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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
RNF207	388591	broad.mit.edu	37	chr1	6279452	6279452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgtccccacatggagGgaacacccgacttagcaaat	11	12	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:6279452G>A	ENST00000377939.4	+	18	2017	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	ICMT_ENST00000495791.1_5'Flank|RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	630						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCACATGGAGGGAACACCCGA	0.532																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1888-1890)agG>agA		ring finger protein 207							39	41	40					1																	6279452		1900	4114	6014	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6279452G>A	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1890G>A	1.37:g.6279452G>A						RNF207_ENST00000377948.2_3'UTR	p.R630R	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	18	2017	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	630					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.1890G>A	CCDS59.2																																																																																				0.532	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		29	98	0	0	0	1	0	29	98					A	6279452	G	A	6279452	2	1	1	1	0	0	0	0	0	0	0	1	13524	1223	43	2		2	RNF207	1	6279452	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		6279452	242971169	1	1											
OPRD1	4985	broad.mit.edu	37	chr1	29189523	29189523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccacatcttcgtcatcGtctggacgctggtggacatc	9	14	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:29189523G>A	ENST00000234961.2	+	3	1089	c.847G>A	c.(847-849)Gtc>Atc	p.V283I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTTCGTCATCGTCTGGACGCT	0.662																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(847-849)Gtc>Atc		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						30	25	27					1																	29189523		2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189523G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.847G>A	1.37:g.29189523G>A	ENSP00000234961:p.Val283Ile						p.V283I	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1089	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	283					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.847G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029141	0.54790	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37235	1.21	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.149246	0.44688	D	0.000439	T	0.28499	0.0705	N	0.25992	0.78	0.80722	D	1	B	0.24768	0.111	B	0.32805	0.153	T	0.07673	-1.0760	10	0.23891	T	0.37	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	283	P41143	OPRD_HUMAN	I	283;235	ENSP00000234961:V283I	ENSP00000234961:V283I	V	+	1	0	OPRD1	29062110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.554000	0.73923	2.097000	0.63578	0.462000	0.41574	GTC		0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		4	66	0	0	0	1	0	4	66					A	29189523	G	A	29189523	3	1	1	1	0	0	0	0	1	0	0	0	10926	1145	40	1	857	1	OPRD1	1	29189523	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	22910071	29189523	220061098	2	2											
CSMD2	114784	broad.mit.edu	37	chr1	34286109	34286109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcccctttcgggtatgCcagggtctggacacatatta	10	10	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:34286109C>T	ENST00000373381.4	-	8	1336	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	347	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TTCGGGTATGCCAGGGTCTGG	0.448																																						ENST00000373381.4																			0				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						c.(1159-1161)gGc>gAc		CUB and Sushi multiple domains 2							174	172	172					1																	34286109		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286109C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1160G>A	1.37:g.34286109C>T	ENSP00000362479:p.Gly387Asp						p.G387D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			8	1336	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	347			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.068273	0.93950	.	.	ENSG00000121904	ENST00000373381	T	0.63417	-0.04	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.76938	2.355	0.80722	D	1	D;B	0.57257	0.979;0.07	P;B	0.60473	0.875;0.102	T	0.76310	-0.3006	10	0.38643	T	0.18	.	19.0707	0.93134	0.0:1.0:0.0:0.0	.	347;387	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	387	ENSP00000362479:G387D	ENSP00000241312:G347D	G	-	2	0	CSMD2	34058696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.069000	0.71209	2.746000	0.94184	0.655000	0.94253	GGC		0.448	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	838	0	0	0	1	0	7	838					T	34286109	C	T	34286109	3	4	1	1	0	0	0	0	1	0	0	0	3956	739	26	2	9671	2	CSMD2	1	34286109	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	5096586	34286109	214964512	3	3											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			13	532						13	532	---	---	---	---	-	44071948	GCG	-	44071946	7	5	1	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-2J-AAB1-01A-11D-A40W-08	9785837	44071946	205178675	4	4											
LHX8	431707	broad.mit.edu	37	chr1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacgccacaagaaacacGtcagtcctaatcactcatcc	6	15	3	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(850-852)Gtc>Atc		LIM homeobox 8							295	264	274					1																	75622617		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622617G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.850G>A	1.37:g.75622617G>A	ENSP00000294638:p.Val284Ile					LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	p.V284I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1514	+			284					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.850G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852331	0.51270	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86097	-2.07;-2.06	5.12	5.12	0.69794	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.29908	0.895	0.80722	D	1	B	0.22480	0.07	B	0.16722	0.016	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	284	Q68G74	LHX8_HUMAN	I	284;274	ENSP00000294638:V284I;ENSP00000348597:V274I	ENSP00000294638:V284I	V	+	1	0	LHX8	75395205	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	7.404000	0.79996	2.556000	0.86216	0.455000	0.32223	GTC		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		23	707	0	0	0	1	0	23	707					A	75622617	G	A	75622617	3	1	1	1	0	0	0	0	1	0	0	0	8808	1145	40	1	880	1	LHX8	1	75622617	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	31550671	75622617	173628004	5	5											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334298	77334298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagcagcaggcgtc	13	14	0	0	rs554217920	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		11676	0.002		0.0	False		,,,				2504	0.0					ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							12	12	12					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A						ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	367	+			44			Poly-Gln.		B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																				0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		4	120	0	0	0	1	0	4	120					A	77334298	G	A	77334298	2	1	1	1	0	0	0	0	0	0	0	1	15279	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1711681	77334298	171916323	6	6											
ABCA4	24	broad.mit.edu	37	chr1	94497517	94497517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcagacattggagtcCtggggtgtctgtccagcctt	16	9	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:94497517C>T	ENST00000370225.3	-	27	4031	c.3945G>A	c.(3943-3945)caG>caA	p.Q1315Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1315					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTGGAGTCCTGGGGTGTCT	0.632																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3943-3945)caG>caA		ATP-binding cassette, sub-family A (ABC1), member 4							45	53	50					1																	94497517		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94497517C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3945G>A	1.37:g.94497517C>T							p.Q1315Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	27	4031	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1315					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3945G>A	CCDS747.1																																																																																				0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	383	0	0	0	1	0	19	383					T	94497517	C	T	94497517	2	4	1	1	0	0	0	0	0	0	0	1	34	680	24	2		2	ABCA4	1	94497517	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	17163219	94497517	154753104	7	7											
DPYD	1806	broad.mit.edu	37	chr1	98205957	98205957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatttaccttgtttgcAatacttgtgatgaatgattt	7	5	1	4			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:98205957A>C	ENST00000370192.3	-	4	412	c.312T>G	c.(310-312)atT>atG	p.I104M	DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	104					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTTGTTTGCAATACTTGTGA	0.343																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(310-312)atT>atG		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						155	156	156					1																	98205957		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98205957A>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.312T>G	1.37:g.98205957A>C	ENSP00000359211:p.Ile104Met					DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M	p.I104M	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	4	412	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	104					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.312T>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679197	0.68042	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.76186	-1.0;-1.0;-1.0	5.69	-5.09	0.02920	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	H	0.96604	3.85	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.82926	-0.0215	10	0.87932	D	0	-18.9959	7.7046	0.28642	0.5443:0.0:0.3574:0.0983	.	104;104	E9PFN1;Q12882	.;DPYD_HUMAN	M	104;67;104	ENSP00000359211:I104M;ENSP00000398884:I67M;ENSP00000307107:I104M	ENSP00000307107:I104M	I	-	3	3	DPYD	97978545	0.973000	0.33851	0.958000	0.39756	0.987000	0.75469	0.190000	0.17057	-0.884000	0.03976	-0.361000	0.07541	ATT		0.343	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		72	326	0	0	0	1	0	72	326					C	98205957	A	C	98205957	3	2	1	1	0	0	0	0	1	0	0	0	4761	126	5	4	2888	4	DPYD	1	98205957	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	3708440	98205957	151044664	8	8											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454068	114454068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactccgagcttcgtgcctTtgtcgcagcactgaagcctt	9	13	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:114454068T>G	ENST00000369563.3	+	4	1300	c.854T>G	c.(853-855)tTt>tGt	p.F285C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	285					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGTGCCTTTGTCGCAGCA	0.567								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(853-855)tTt>tGt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							119	102	108					1																	114454068		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454068T>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.854T>G	1.37:g.114454068T>G	ENSP00000358576:p.Phe285Cys					DCLRE1B_ENST00000466480.1_3'UTR	p.F285C	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1300	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	285					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.854T>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298120	0.81025	.	.	ENSG00000118655	ENST00000369563	T	0.61980	0.06	6.02	4.9	0.64082	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.85630	2.765	0.58432	D	0.999998	D	0.63046	0.992	P	0.59357	0.856	T	0.75983	-0.3125	10	0.59425	D	0.04	-9.6429	11.9514	0.52956	0.0:0.0672:0.0:0.9328	.	285	Q9H816	DCR1B_HUMAN	C	285	ENSP00000358576:F285C	ENSP00000358576:F285C	F	+	2	0	DCLRE1B	114255591	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	7.967000	0.87967	1.116000	0.41820	0.533000	0.62120	TTT		0.567	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		64	297	0	0	0	1	0	64	297					G	114454068	T	G	114454068	3	3	1	1	0	0	0	0	1	0	0	0	4306	1841	64	4	868	4	DCLRE1B	1	114454068	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	16248111	114454068	134796553	9	9											
SPAG17	200162	broad.mit.edu	37	chr1	118550780	118550780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcgtgagctttctacccGcatacacttcacctgcctgg	8	14	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:118550780G>A	ENST00000336338.5	-	31	4539	c.4474C>T	c.(4474-4476)Cgg>Tgg	p.R1492W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1492						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		CTTTCTACCCGCATACACTTC	0.493																																						ENST00000336338.5																			0				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						c.(4474-4476)Cgg>Tgg		sperm associated antigen 17							127	103	111					1																	118550780		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118550780G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4474C>T	1.37:g.118550780G>A	ENSP00000337804:p.Arg1492Trp						p.R1492W	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4539	-	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)	1492					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4474C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785810	0.31593	.	.	ENSG00000155761	ENST00000336338	T	0.23348	1.91	5.83	2.83	0.33086	.	0.346719	0.27932	N	0.017261	T	0.26048	0.0635	L	0.41961	1.31	0.30207	N	0.798109	D	0.89917	1.0	D	0.66196	0.942	T	0.11470	-1.0586	10	0.62326	D	0.03	.	14.1367	0.65291	0.0:0.0:0.6081:0.3919	.	1492	Q6Q759	SPG17_HUMAN	W	1492	ENSP00000337804:R1492W	ENSP00000337804:R1492W	R	-	1	2	SPAG17	118352303	0.805000	0.28982	0.998000	0.56505	0.340000	0.28889	1.437000	0.34991	0.326000	0.23384	0.563000	0.77884	CGG		0.493	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		16	194	0	0	0	1	0	16	194					A	118550780	G	A	118550780	3	1	1	1	0	0	0	0	1	0	0	0	15031	1086	38	1	2269	1	SPAG17	1	118550780	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	4096712	118550780	130699841	10	10											
SV2A	9900	broad.mit.edu	37	chr1	149877463	149877463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtagagttcaacagtcaAcacgtccagcgcattccagg	12	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:149877463A>C	ENST00000369146.3	-	12	2504	c.2014T>G	c.(2014-2016)Ttg>Gtg	p.L672V	SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	672					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCAACAGTCAACACGTCCAGC	0.557																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(2014-2016)Ttg>Gtg		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						204	186	192					1																	149877463		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149877463A>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2014T>G	1.37:g.149877463A>C	ENSP00000358142:p.Leu672Val					SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	p.L672V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	2504	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		672					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2014T>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	A	2.739	-0.262762	0.05754	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.06371	3.31;3.31	3.89	-0.377	0.12501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.982908	0.08311	N	0.965306	T	0.00695	0.0023	N	0.02865	-0.47	0.48632	D	0.999689	B;B	0.16802	0.019;0.005	B;B	0.21360	0.034;0.023	T	0.48768	-0.9006	10	0.02654	T	1	-9.4314	8.0509	0.30577	0.3216:0.0:0.6784:0.0	.	124;672	B4E000;Q7L0J3	.;SV2A_HUMAN	V	672	ENSP00000358142:L672V;ENSP00000358141:L672V	ENSP00000358141:L672V	L	-	1	2	SV2A	148144087	0.954000	0.32549	0.999000	0.59377	0.960000	0.62799	0.088000	0.14979	0.030000	0.15379	0.247000	0.18012	TTG		0.557	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			11	877	0	0	0	1	0	11	877					C	149877463	A	C	149877463	3	2	1	1	0	0	0	0	1	0	0	0	15469	40	2	4	222	4	SV2A	1	149877463	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	31326683	149877463	99373158	11	11											
FLG	2312	broad.mit.edu	37	chr1	152282031	152282031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtgcgtccatgggcGgactcagactgttcatgagt	14	11	2	2	rs145158439	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152282031G>A	ENST00000368799.1	-	3	5366	c.5331C>T	c.(5329-5331)tcC>tcT	p.S1777S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	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)			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)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis				G|||	5	0.000998403	0.0008	0.0043	5008	,	,		18770	0.0		0.001	False		,,,				2504	0.0					ENST00000368799.1																			0				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						c.(5329-5331)tcC>tcT		filaggrin		G		11,4395	17.9+/-39.9	0,11,2192	205	212	209		5331	-8.1	0	1	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923		1777/4062	152282031	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282031G>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.5331C>T	1.37:g.152282031G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1777S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5366	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1777			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5331C>T	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	1175	0	0	0	1	0	9	1175					A	152282031	G	A	152282031	2	1	1	1	0	0	0	0	0	0	0	1	5947	1103	39	1		1	FLG	1	152282031	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2404568	152282031	96968590	12	12											
CRNN	49860	broad.mit.edu	37	chr1	152382863	152382863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctgcctgggtctgaGttccagatccagtcacagtc	11	13	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152382863G>A	ENST00000271835.3	-	3	757	c.695C>T	c.(694-696)aCt>aTt	p.T232I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	232	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGTCTGAGTTCCAGATCC	0.572																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(694-696)aCt>aTt		cornulin							270	271	271					1																	152382863		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382863G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.695C>T	1.37:g.152382863G>A	ENSP00000271835:p.Thr232Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T232I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	757	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		232			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.695C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900907	0.33535	.	.	ENSG00000143536	ENST00000271835	T	0.05025	3.51	4.93	1.99	0.26369	.	0.507715	0.18383	N	0.142896	T	0.01254	0.0041	L	0.43923	1.385	0.09310	N	0.999999	P	0.43431	0.807	B	0.35470	0.203	T	0.46176	-0.9210	10	0.16896	T	0.51	.	4.0875	0.09953	0.1931:0.0:0.6221:0.1848	.	232	Q9UBG3	CRNN_HUMAN	I	232	ENSP00000271835:T232I	ENSP00000271835:T232I	T	-	2	0	CRNN	150649487	0.996000	0.38824	0.242000	0.24170	0.021000	0.10359	2.827000	0.48112	0.255000	0.21593	-0.237000	0.12165	ACT		0.572	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		186	812	0	0	0	1	0	186	812					A	152382863	G	A	152382863	3	1	1	1	0	0	0	0	1	0	0	0	3901	1029	36	2	796	2	CRNN	1	152382863	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	100832	152382863	96867758	13	13											
S100A8	6279	broad.mit.edu	37	chr1	153362970	153362970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtacttgtggtagacGtcgatgatagagttcaaggc	15	5	1	3	rs373891072		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:153362970G>A	ENST00000368733.3	-	2	211	c.42C>T	c.(40-42)gaC>gaT	p.D14D	S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	14	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)			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)			TGTGGTAGACGTCGATGATAG	0.507													N|||	1	0.000199681	0.0	0.0	5008	,	,		19401	0.0		0.0	False		,,,				2504	0.001					ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(40-42)gaC>gaT		S100 calcium binding protein A8		A		0,4406		0,0,2203	184	185	185		42	-8.3	0	1		185	1,8599		0,1,4299	no	coding-synonymous	S100A8	NM_002964.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		14/94	153362970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362970G>A	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.42C>T	1.37:g.153362970G>A						S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR	p.D14D	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	211	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		14			EF-hand 1.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Silent	SNP	ENST00000368733.3	37	c.42C>T	CCDS1038.1																																																																																				0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		11	899	0	0	0	1	0	11	899					A	153362970	G	A	153362970	2	1	1	1	0	0	0	0	0	0	0	1	13836	1136	40	1		1	S100A8	1	153362970	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	980107	153362970	95887651	14	14											
OLFML2B	25903	broad.mit.edu	37	chr1	161953983	161953983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgttgcgggtgaaggcgcGattgtagtagaaggcgccat	17	6	0	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:161953983G>A	ENST00000294794.3	-	8	2158	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1735-1737)Cgc>Tgc		olfactomedin-like 2B							98	80	86					1																	161953983		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953983G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1735C>T	1.37:g.161953983G>A	ENSP00000294794:p.Arg579Cys					OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C	p.R579C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2158	-	all_hematologic(112;0.156)		579			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1735C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968748	0.74131	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90004	-2.6;-2.6;-2.6	5.06	5.06	0.68205	Olfactomedin-like (3);	.	.	.	.	D	0.92453	0.7604	M	0.77313	2.365	0.46849	D	0.999222	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.93668	0.6987	8	0.87932	D	0	.	11.0657	0.47974	0.0:0.0:0.8145:0.1855	.	580;579	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	579;580;62	ENSP00000294794:R579C;ENSP00000356917:R580C;ENSP00000356915:R62C	ENSP00000294794:R579C	R	-	1	0	OLFML2B	160220607	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.692000	0.84203	2.328000	0.79073	0.561000	0.74099	CGC		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		60	264	0	0	0	1	0	60	264					A	161953983	G	A	161953983	3	1	1	1	0	0	0	0	1	0	0	0	10900	1058	37	1	521	1	OLFML2B	1	161953983	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	8591013	161953983	87296638	15	15											
ELF3	1999	broad.mit.edu	37	chr1	201981145	201981145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgcaggttctggactGgatcagctaccaagtggaga	14	8	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:201981145G>A	ENST00000359651.3	+	2	3416	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTTCTGGACTGGATCAGCTAC	0.577																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(223-225)tGg>tAg		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							128	127	127					1																	201981145		2203	4300	6503	SO:0001587	stop_gained	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981145G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.224G>A	1.37:g.201981145G>A	ENSP00000352673:p.Trp75*					ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR	p.W75*			P78545	ELF3_HUMAN			2	3416	+			75			PNT.			Nonsense_Mutation	SNP	ENST00000359651.3	37	c.224G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	38	6.948324	0.97956	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	X	75;75;75;75;73	.	ENSP00000311348:W75X	W	+	2	0	ELF3	200247768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.149000	0.94659	2.608000	0.88229	0.591000	0.81541	TGG		0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		121	612	0	0	0	1	0	121	612					A	201981145	G	A	201981145	4	1	1	1	0	0	0	0	0	1	0	0	5073	1357	47	2	230	2	ELF3	1	201981145	Nonsense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	40027162	201981145	47269476	16	16											
RYR2	6262	broad.mit.edu	37	chr1	237969493	237969494	+	Frame_Shift_Ins	INS	-	-	T													ttcttggacactataacaacINStttttttttgccgctcacct							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:237969493_237969494insT	ENST00000366574.2	+	99	14525_14526	c.14208_14209insT	c.(14209-14211)tttfs	p.F4737fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.F4743fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.F4721fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4737					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)			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)			ACTATAACAACTTTTTTTTTGC	0.401																																						ENST00000366574.2																			0				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						c.(14206-14211)aattttfs		ryanodine receptor 2 (cardiac)																																				SO:0001589	frameshift_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.chr1:237969493_237969494insT	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.14217dupT	1.37:g.237969502_237969502dupT	ENSP00000355533:p.Phe4737fs					RYR2_ENST00000360064.6_Frame_Shift_Ins_p.NF4742fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.NF4720fs	p.NF4736fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14525_14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4736					Q15411|Q546N8|Q5T3P2	Frame_Shift_Ins	INS	ENST00000366574.2	37	c.14208_14209insT	CCDS55691.1																																																																																				0.401	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	227						7	227	---	---	---	---	T	237969494	-	T	237969493	7	5	1	1	0	1	1	0	0	0	0	0	13819	564	20	0	14602	0	RYR2	1	237969493	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08	35988348	237969493	11281128	17	17											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	705	0	0	0	1	0	6	705					T	27324303	C	T	27324303	3	4	1	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		27324303	215875070	18	18											
HNRPLL	92906	broad.mit.edu	37	chr2	38812916	38812916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaagcctgttgaccaGcaatgtacacgggttcatct	9	9	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:38812916G>A	ENST00000449105.3	-	3	755	c.416C>T	c.(415-417)gCt>gTt	p.A139V	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	139	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTGTTGACCAGCAATGTACAC	0.418																																						ENST00000449105.2																			0											c.(415-417)gCt>gTt		heterogeneous nuclear ribonucleoprotein L-like							177	162	167					2																	38812916		2203	4300	6503	SO:0001583	missense	92906							g.chr2:38812916G>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.416C>T	2.37:g.38812916G>A	ENSP00000390625:p.Ala139Val					HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V	p.A139V	NM_138394.3	NP_612403.2					3	755	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37	c.416C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.660497	0.88154	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	.	.	.	5.75	4.87	0.63330	.	0.061993	0.64402	N	0.000004	T	0.68641	0.3023	M	0.80183	2.485	0.44843	D	0.997856	B;B	0.20261	0.043;0.01	B;B	0.20955	0.032;0.032	T	0.66264	-0.5967	9	0.33940	T	0.23	.	14.8793	0.70519	0.0686:0.0:0.9314:0.0	.	134;139	C9J9G0;D6W592	.;.	V	139;134;139;139;139;134;78	.	ENSP00000351136:A139V	A	-	2	0	HNRPLL	38666420	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.744000	0.85034	1.445000	0.47624	0.655000	0.94253	GCT		0.418	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		22	660	0	0	0	1	0	22	660					A	38812916	G	A	38812916	3	1	1	1	0	0	0	0	1	0	0	0	7307	971	34	2	1256	2	HNRPLL	2	38812916	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	11488613	38812916	204386457	19	19											
PLEK	5341	broad.mit.edu	37	chr2	68622834	68622834	+	Frame_Shift_Del	DEL	C	C	-													aggaagagtgaggaagagaaCctttttgagatcatcacagc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:68622834delC	ENST00000234313.7	+	9	1118	c.939delC	c.(937-939)aacfs	p.N313fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	313	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGAAGAGAACCTTTTTGAGA	0.542																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(937-939)aafs		pleckstrin							153	138	143					2																	68622834		2203	4300	6503	SO:0001589	frameshift_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622834delC	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.939delC	2.37:g.68622834delC	ENSP00000234313:p.Asn313fs						p.N313fs	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1118	+		Ovarian(717;0.0129)	313			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Frame_Shift_Del	DEL	ENST00000234313.7	37	c.939delC	CCDS1887.1																																																																																				0.542	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		108	515						108	515	---	---	---	---	-	68622834	C	-	68622834	7	5	1	1	0	1	0	1	0	0	0	0	12095	506	18	0	973	0	PLEK	2	68622834	Frame_Shift_Del	DEL	C	TCGA-2J-AAB1-01A-11D-A40W-08	29809918	68622834	174576539	20	20											
RGPD3	653489	broad.mit.edu	37	chr2	107084691	107084691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcgaggcgacggggcGgagccctgcaccgaggcgac	16	14	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:107084691G>A	ENST00000409886.3	-	1	141	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RGPD3_ENST00000304514.7_Silent_p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	18					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCGACGGGGCGGAGCCCTGCA	0.721																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(52-54)tcC>tcT		RANBP2-like and GRIP domain containing 3							59	86	78					2																	107084691		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107084691G>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.54C>T	2.37:g.107084691G>A						RGPD3_ENST00000304514.7_Silent_p.S18S	p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			1	141	-			18					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.54C>T	CCDS46379.1																																																																																				0.721	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	70	0	0	0	1	0	5	70					A	107084691	G	A	107084691	2	1	1	1	0	0	0	0	0	0	0	1	13337	1103	39	1		1	RGPD3	2	107084691	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	38461857	107084691	136114682	21	21											
GLI2	2736	broad.mit.edu	37	chr2	121740416	121740416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagccttctccaacgcctCggaccgcgccaagcaccaga	8	18	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:121740416C>T	ENST00000452319.1	+	11	1703	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCAACGCCTCGGACCGCGCC	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1642-1644)tCg>tTg		GLI family zinc finger 2							89	77	81					2																	121740416		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121740416C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1643C>T	2.37:g.121740416C>T	ENSP00000390436:p.Ser548Leu					GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR	p.S548L			P10070	GLI2_HUMAN			11	1703	+	Renal(3;0.0496)	Prostate(154;0.0623)	548						Missense_Mutation	SNP	ENST00000452319.1	37	c.1643C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240212	0.95240	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.52526	0.66;0.66;0.66	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.994;0.998;0.999;0.994	T	0.70967	-0.4728	10	0.87932	D	0	.	17.9271	0.88987	0.0:1.0:0.0:0.0	.	548;531;203;203;220	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	L	548;548;220	ENSP00000390436:S548L;ENSP00000354586:S548L;ENSP00000312694:S220L	ENSP00000312694:S220L	S	+	2	0	GLI2	121456886	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.599000	0.82757	2.536000	0.85505	0.484000	0.47621	TCG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		50	281	0	0	0	1	0	50	281					T	121740416	C	T	121740416	3	4	1	1	0	0	0	0	1	0	0	0	6467	893	31	1	1681	1	GLI2	2	121740416	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	14655725	121740416	121458957	22	22											
EPC2	26122	broad.mit.edu	37	chr2	149542414	149542414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacaaatgcagtgcAcctcaataatgtcagtgttg	9	10	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:149542414A>G	ENST00000258484.6	+	13	2229	c.2195A>G	c.(2194-2196)cAc>cGc	p.H732R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	732					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAGTGCACCTCAATAAT	0.473																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(2194-2196)cAc>cGc		enhancer of polycomb homolog 2 (Drosophila)							124	120	121					2																	149542414		2107	4231	6338	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149542414A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.2195A>G	2.37:g.149542414A>G	ENSP00000258484:p.His732Arg						p.H732R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	13	2229	+			732					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.2195A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916638	0.33815	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.93	5.93	0.95920	.	0.105505	0.64402	D	0.000005	T	0.68449	0.3002	L	0.44542	1.39	0.80722	D	1	D	0.54772	0.968	D	0.67900	0.954	T	0.65713	-0.6101	9	0.34782	T	0.22	-2.9627	16.3783	0.83418	1.0:0.0:0.0:0.0	.	732	Q52LR7	EPC2_HUMAN	R	732	.	ENSP00000258484:H732R	H	+	2	0	EPC2	149258884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.261000	0.74972	0.477000	0.44152	CAC		0.473	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		23	187	0	0	0	1	0	23	187					G	149542414	A	G	149542414	3	3	1	1	0	0	0	0	1	0	0	0	5179	159	6	4	2245	4	EPC2	2	149542414	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	27801998	149542414	93656959	23	23											
TANC1	85461	broad.mit.edu	37	chr2	160087288	160087288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atataataaccaagccaaaaCctgttctgtttctaccctga	4	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:160087288C>T	ENST00000263635.6	+	27	5588	c.5351C>T	c.(5350-5352)aCc>aTc	p.T1784I	TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1784					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGCCAAAACCTGTTCTGTT	0.498																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5350-5352)aCc>aTc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							108	109	109					2																	160087288		1957	4157	6114	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087288C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5351C>T	2.37:g.160087288C>T	ENSP00000263635:p.Thr1784Ile					TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	p.T1784I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5588	+			1784					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5351C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998461	0.19121	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69685	-0.42;-0.42	5.96	4.9	0.64082	.	0.635444	0.17407	N	0.175331	T	0.50939	0.1645	N	0.22421	0.69	0.18873	N	0.999989	B	0.15473	0.013	B	0.16289	0.015	T	0.24261	-1.0165	9	.	.	.	.	12.4187	0.55508	0.0:0.8581:0.0:0.1419	.	1784	Q9C0D5	TANC1_HUMAN	I	1678;1784	ENSP00000396339:T1678I;ENSP00000263635:T1784I	.	T	+	2	0	TANC1	159795534	0.992000	0.36948	0.283000	0.24790	0.386000	0.30323	0.906000	0.28517	2.823000	0.97156	0.655000	0.94253	ACC		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			40	138	0	0	0	1	0	40	138					T	160087288	C	T	160087288	3	4	1	1	0	0	0	0	1	0	0	0	15596	507	18	2	5454	2	TANC1	2	160087288	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	10544874	160087288	83112085	24	24											
PDE11A	50940	broad.mit.edu	37	chr2	178762794	178762794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agataacttactggtgattcGatgtcctctaggagtaaaac	9	7	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:178762794G>A	ENST00000286063.6	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	431	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGGTGATTCGATGTCCTCTA	0.348									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			4	Substitution - coding silent(4)	p.I431I(2)|p.I181I(2)	large_intestine(4)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1291-1293)atC>atT		phosphodiesterase 11A							116	112	114					2																	178762794		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178762794G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1293C>T	2.37:g.178762794G>A						PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR	p.I431I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		4	1610	-			431			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1293C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059928	0.19987	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.89	0.569	0.17340	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49808	-0.8900	4	.	.	.	.	9.715	0.40270	0.7158:0.0:0.2842:0.0	.	.	.	.	L	70	.	.	S	-	2	0	PDE11A	178471040	0.922000	0.31269	0.995000	0.50966	0.966000	0.64601	0.180000	0.16860	-0.128000	0.11641	-0.302000	0.09304	TCG		0.348	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			92	337	0	0	0	1	0	92	337					A	178762794	G	A	178762794	2	1	1	1	0	0	0	0	0	0	0	1	11673	1048	37	1		1	PDE11A	2	178762794	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	18675506	178762794	64436579	25	25											
SF3B1	23451	broad.mit.edu	37	chr2	198267359	198267359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atagctatctgttgtacaatCttaataccagtgtgtctcgc	7	9	3	0	rs377023736		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:198267359C>G	ENST00000335508.6	-	14	2089	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666N(19)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTACAATCTTAATACCAG	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		19	Substitution - Missense(19)	p.K666N(19)	haematopoietic_and_lymphoid_tissue(15)|NS(3)|endometrium(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aaG>aaC		splicing factor 3b, subunit 1, 155kDa		C	ASN/LYS	0,4406		0,0,2203	116	116	116		1998	4.8	1	2		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	SF3B1	NM_012433.2	94	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	666/1305	198267359	1,13005	2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267359C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1998G>C	2.37:g.198267359C>G	ENSP00000335321:p.Lys666Asn						p.K666N	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2089	-			666					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1998G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159735	0.78226	0.0	1.16E-4	ENSG00000115524	ENST00000335508	T	0.65732	-0.17	5.68	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83575	0.5284	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87121	0.2191	10	0.87932	D	0	.	11.0204	0.47715	0.0:0.8576:0.0:0.1424	.	666	O75533	SF3B1_HUMAN	N	666	ENSP00000335321:K666N	ENSP00000335321:K666N	K	-	3	2	SF3B1	197975604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.643000	0.46604	1.410000	0.46936	0.561000	0.74099	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			11	319	0	0	0	1	0	11	319					G	198267359	C	G	198267359	3	3	1	1	0	0	0	0	1	0	0	0	14199	912	32	5	1964	5	SF3B1	2	198267359	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	19504565	198267359	44932014	26	26											
ZDBF2	57683	broad.mit.edu	37	chr2	207175041	207175041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggcctcctaagcaaaAggggcgtgtggcttctcaat	13	9	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:207175041A>G	ENST00000374423.3	+	5	6175	c.5789A>G	c.(5788-5790)aAg>aGg	p.K1930R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1930							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTAAGCAAAAGGGGCGTGTG	0.428																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5788-5790)aAg>aGg		zinc finger, DBF-type containing 2							70	70	70					2																	207175041		1960	4152	6112	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175041A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5789A>G	2.37:g.207175041A>G	ENSP00000363545:p.Lys1930Arg						p.K1930R	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6175	+			1930					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5789A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	4.060	0.008959	0.07912	.	.	ENSG00000204186	ENST00000374423	T	0.44482	0.92	5.64	-2.84	0.05751	.	.	.	.	.	T	0.19525	0.0469	N	0.22421	0.69	0.09310	N	1	P	0.40144	0.704	B	0.33799	0.17	T	0.22556	-1.0213	9	0.16896	T	0.51	.	5.9471	0.19225	0.1465:0.6094:0.0829:0.1612	.	1930	Q9HCK1	ZDBF2_HUMAN	R	1930	ENSP00000363545:K1930R	ENSP00000363545:K1930R	K	+	2	0	ZDBF2	206883286	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.647000	0.24812	-0.083000	0.12618	0.456000	0.33151	AAG		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	336	0	0	0	1	0	4	336					G	207175041	A	G	207175041	3	3	1	1	0	0	0	0	1	0	0	0	17652	72	3	4	5799	4	ZDBF2	2	207175041	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	8907682	207175041	36024332	27	27											
ACADL	33	broad.mit.edu	37	chr2	211070474	211070474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcatgatttgtgaccGcaactacaatcacaacatca	6	11	3	2	rs546101555		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:211070474G>A	ENST00000233710.3	-	6	877	c.650C>T	c.(649-651)gCg>gTg	p.A217V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	217					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTGTGACCGCAACTACAAT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0					ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(649-651)gCg>gTg		acyl-CoA dehydrogenase, long chain							142	130	134					2																	211070474		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211070474G>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.650C>T	2.37:g.211070474G>A	ENSP00000233710:p.Ala217Val					AC006994.2_ENST00000412065.1_RNA	p.A217V	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	6	877	-		Renal(323;0.202)	217					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.650C>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630025	0.28978	.	.	ENSG00000115361	ENST00000233710	D	0.97505	-4.41	5.28	4.41	0.53225	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.208411	0.49305	D	0.000151	D	0.95500	0.8538	L	0.46885	1.475	0.43141	D	0.994895	P	0.45594	0.862	P	0.44772	0.46	D	0.94867	0.8027	10	0.51188	T	0.08	.	14.1005	0.65051	0.0727:0.0:0.9273:0.0	.	217	P28330	ACADL_HUMAN	V	217	ENSP00000233710:A217V	ENSP00000233710:A217V	A	-	2	0	ACADL	210778719	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	7.334000	0.79224	1.240000	0.43803	-0.137000	0.14449	GCG		0.398	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		6	347	0	0	0	1	0	6	347					A	211070474	G	A	211070474	3	1	1	1	0	0	0	0	1	0	0	0	112	1087	38	1	666	1	ACADL	2	211070474	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3895433	211070474	32128899	28	28											
DNPEP	23549	broad.mit.edu	37	chr2	220239025	220239025	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagagggctcaatccactaAgagattatggcttagagaag	11	7	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:220239025A>C	ENST00000273075.4	-	15	1667	c.1447T>G	c.(1447-1449)Tta>Gta	p.L483V	DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	473					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATCCACTAAGAGATTATGG	0.473																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1447-1449)Tta>Gta		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						110	106	107					2																	220239025		1950	4138	6088	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220239025A>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1447T>G	2.37:g.220239025A>C	ENSP00000273075:p.Leu483Val					DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V	p.L483V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1667	-		Renal(207;0.0474)	473					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1447T>G	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	A	2.901	-0.227412	0.06022	.	.	ENSG00000123992	ENST00000273075;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	5.44	-10.9	0.00192	.	1.368830	0.04681	N	0.412341	T	0.11495	0.0280	N	0.11023	0.085	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.13388	-1.0511	9	0.13470	T	0.59	1.4126	0.5348	0.00635	0.2362:0.1861:0.301:0.2768	.	491;491;473;483	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	V	483;408;491;376	.	ENSP00000273075:L483V	L	-	1	2	DNPEP	219947269	0.000000	0.05858	0.016000	0.15963	0.364000	0.29643	-1.670000	0.01956	-1.757000	0.01316	-0.333000	0.08304	TTA		0.473	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		50	256	0	0	0	1	0	50	256					C	220239025	A	C	220239025	3	2	1	1	0	0	0	0	1	0	0	0	4695	69	3	4	14	4	DNPEP	2	220239025	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	9168551	220239025	22960348	29	29											
IRS1	3667	broad.mit.edu	37	chr2	227659834	227659834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcccaggggttgatgAgggggtgggggtgggggagg	25	6	0	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227659834A>G	ENST00000305123.5	-	1	4641	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1207	Pro-rich.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTGATGAGGGGGTGGGG	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3619-3621)ccT>ccC		insulin receptor substrate 1							32	42	39					2																	227659834		2200	4298	6498	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659834A>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3621T>C	2.37:g.227659834A>G						IRS1_ENST00000498335.1_5'UTR	p.P1207P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4641	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1207			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3621T>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	184	0	0	0	1	0	8	184					G	227659834	A	G	227659834	2	3	1	1	0	0	0	0	0	0	0	1	7870	291	11	4		4	IRS1	2	227659834	Silent	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	7420809	227659834	15539539	30	30											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	298						10	298	---	---	---	---	-	227660810	GCT	-	227660808	7	5	1	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-2J-AAB1-01A-11D-A40W-08	974	227660808	15538565	31	31											
WDR69	164781	broad.mit.edu	37	chr2	228762908	228762908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatcttagtgacaaaatcGccactgggtcctttgataaa	7	8	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:228762908G>A	ENST00000309931.2	+	6	534	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	DAW1_ENST00000373666.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	151						cilium (GO:0005929)											TGACAAAATCGCCACTGGGTC	0.303																																						ENST00000373666.2																			0											c.(451-453)Gcc>Acc		dynein assembly factor with WDR repeat domains 1							40	43	42					2																	228762908		2202	4299	6501	SO:0001583	missense	164781							g.chr2:228762908G>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.451G>A	2.37:g.228762908G>A	ENSP00000311899:p.Ala151Thr					DAW1_ENST00000309931.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T	p.A151T							6	1087	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.451G>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458128	0.84317	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.70282	-0.47;-0.47;-0.47	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	M	0.88241	2.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	D	0.88962	0.3394	10	0.87932	D	0	.	17.5928	0.88001	0.0:0.0:1.0:0.0	.	151	Q8N136	WDR69_HUMAN	T	151;151;136	ENSP00000362770:A151T;ENSP00000311899:A151T;ENSP00000437887:A136T	ENSP00000311899:A151T	A	+	1	0	WDR69	228471152	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.323000	0.90002	2.507000	0.84556	0.650000	0.86243	GCC		0.303	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		48	269	0	0	0	1	0	48	269					A	228762908	G	A	228762908	3	1	1	1	0	0	0	0	1	0	0	0	17373	1087	38	1	473	1	WDR69	2	228762908	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1102100	228762908	14436465	32	32											
TGFBR2	7048	broad.mit.edu	37	chr3	30732957	30732957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgactgagtgctgggaccacGacccagaggcccgtctcaca	12	14	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:30732957G>T	ENST00000295754.5	+	7	1952	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.D524N(1)|p.D524Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTGGGACCACGACCCAGAGGC	0.607																																						ENST00000295754.5																			2	Substitution - Missense(2)	p.D524N(1)|p.D524Y(1)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064328	TGFBR2	M		c.(1570-1572)Gac>Tac		transforming growth factor, beta receptor II (70/80kDa)							71	64	67					3																	30732957		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732957G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1570G>T	3.37:g.30732957G>T	ENSP00000295754:p.Asp524Tyr					TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	p.D524Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1952	+			524			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1570G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005083	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.95103	-3.61;-3.61	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98294	1.0515	10	0.87932	D	0	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	524;549	P37173;D2JYI1	TGFR2_HUMAN;.	Y	524;549;354	ENSP00000295754:D524Y;ENSP00000351905:D549Y	ENSP00000295754:D524Y	D	+	1	0	TGFBR2	30707961	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAC		0.607	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			105	171	1	0	1.43872e-54	1	1.58188e-54	105	171					T	30732957	G	T	30732957	3	4	1	1	0	0	0	0	1	0	0	0	15874	1058	37	3	1675	3	TGFBR2	3	30732957	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		30732957	167289473	33	33											
KBTBD5	131377	broad.mit.edu	37	chr3	42727555	42727555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgactgcgcgcgtctcGccgtggctgcccgcgacttc	13	17	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:42727555G>A	ENST00000287777.4	+	1	545	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	149	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGCGCGTCTCGCCGTGGCTGC	0.647																																						ENST00000287777.4																			0											c.(445-447)Gcc>Acc		kelch-like family member 40							70	72	71					3																	42727555		2203	4299	6502	SO:0001583	missense	131377							g.chr3:42727555G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.445G>A	3.37:g.42727555G>A	ENSP00000287777:p.Ala149Thr						p.A149T	NM_152393.2	NP_689606.2					1	545	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.445G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433683	0.83776	.	.	ENSG00000157119	ENST00000287777	T	0.69040	-0.37	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.66506	2.035	0.58432	D	0.999999	P	0.34662	0.462	B	0.37650	0.255	T	0.73263	-0.4038	10	0.56958	D	0.05	.	17.5196	0.87783	0.0:0.0:1.0:0.0	.	149	Q2TBA0	KBTB5_HUMAN	T	149	ENSP00000287777:A149T	ENSP00000287777:A149T	A	+	1	0	KBTBD5	42702559	1.000000	0.71417	0.926000	0.36857	0.990000	0.78478	7.654000	0.83653	2.391000	0.81399	0.655000	0.94253	GCC		0.647	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		134	174	0	0	0	1	0	134	174					A	42727555	G	A	42727555	3	1	1	1	0	0	0	0	1	0	0	0	8026	1087	38	1	447	1	KBTBD5	3	42727555	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	11994598	42727555	155294875	34	34											
DOCK3	1795	broad.mit.edu	37	chr3	51400102	51400102	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgccccttccagtgccCgaggtaaggatggcagggtg	14	13	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:51400102C>T	ENST00000266037.9	+	49	5313	c.5290C>T	c.(5290-5292)Cga>Tga	p.R1764*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCCAGTGCCCGAGGTAAGGA	0.562																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5290-5292)Cga>Tga		dedicator of cytokinesis 3							47	48	48					3																	51400102		2043	4199	6242	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51400102C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5290C>T	3.37:g.51400102C>T	ENSP00000266037:p.Arg1764*						p.R1764*	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5313	+			1764			Ser-rich.		O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.5290C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	44	10.689336	0.99450	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.6164	0.76769	0.1379:0.862:0.0:0.0	.	.	.	.	X	1764;560	.	ENSP00000266037:R1764X	R	+	1	2	DOCK3	51375142	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.049000	0.49869	2.605000	0.88082	0.563000	0.77884	CGA		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		26	50	0	0	0	1	0	26	50					T	51400102	C	T	51400102	4	4	1	1	0	0	0	0	0	1	0	0	4704	644	23	1	5484	1	DOCK3	3	51400102	Nonsense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	8672547	51400102	146622328	35	35											
TBC1D23	55773	broad.mit.edu	37	chr3	100016873	100016873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcagagatccttcaagCgaatcagctacaaggggtaa	11	9	3	1	rs372446939		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:100016873C>T	ENST00000394144.4	+	9	990	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	328					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATCCTTCAAGCGAATCAGCTA	0.443																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(982-984)gCg>gTg		TBC1 domain family, member 23		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	75	68	71		983,983	5.8	1	3		71	0,8600		0,0,4300	no	missense,missense	TBC1D23	NM_001199198.1,NM_018309.3	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	328/700,328/685	100016873	1,13005	2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100016873C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.983C>T	3.37:g.100016873C>T	ENSP00000377700:p.Ala328Val					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V	p.A328V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			9	990	+			328					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.983C>T	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350043	0.95830	2.27E-4	0.0	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.32988	1.43;1.43;1.43	5.76	5.76	0.90799	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.62885	0.908;0.851	T	0.09058	-1.0692	9	.	.	.	.	19.9533	0.97211	0.0:1.0:0.0:0.0	.	328;328	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	V	328;328;191	ENSP00000340693:A328V;ENSP00000377700:A328V;ENSP00000418059:A191V	.	A	+	2	0	TBC1D23	101499563	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.086000	0.76885	2.725000	0.93324	0.585000	0.79938	GCG		0.443	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		8	181	0	0	0	1	0	8	181					T	100016873	C	T	100016873	3	4	1	1	0	0	0	0	1	0	0	0	15665	768	27	1	1017	1	TBC1D23	3	100016873	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	48616771	100016873	98005557	36	36											
EIF2B5	8893	broad.mit.edu	37	chr3	183855998	183855998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggaggttcgatatgaTttactggattgtcatatcag	13	4	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:183855998T>C	ENST00000273783.3	+	5	851	c.729T>C	c.(727-729)gaT>gaC	p.D243D	EIF2B5_ENST00000444495.1_Silent_p.D243D|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	243					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCGATATGATTTACTGGATT	0.478																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(727-729)gaT>gaC		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							182	166	172					3																	183855998		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855998T>C	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.729T>C	3.37:g.183855998T>C						EIF2B5_ENST00000444495.1_Silent_p.D243D	p.D243D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	851	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		243					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.729T>C	CCDS3252.1																																																																																				0.478	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			20	439	0	0	0	1	0	20	439					C	183855998	T	C	183855998	2	2	1	1	0	0	0	0	0	0	0	1	5020	1490	52	4		4	EIF2B5	3	183855998	Silent	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	83839125	183855998	14166432	37	37											
LRCH3	84859	broad.mit.edu	37	chr3	197544071	197544071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaactgtcaacattgccGgtacacttgtgtaatttgcc	7	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:197544071G>A	ENST00000425562.2	+	3	432	c.432G>A	c.(430-432)ccG>ccA	p.P144P	LRCH3_ENST00000334859.4_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Silent_p.P144P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	144						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		CAACATTGCCGGTACACTTGT	0.378																																						ENST00000438796.2																			0				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						c.(430-432)ccG>ccA		leucine-rich repeats and calponin homology (CH) domain containing 3							152	156	155					3																	197544071		2203	4300	6503	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197544071G>A	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.432G>A	3.37:g.197544071G>A						LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000334859.4_Silent_p.P144P	p.P144P			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)	3	476	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		144					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.432G>A																																																																																					0.378	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		5	512	0	0	0	1	0	5	512					A	197544071	G	A	197544071	2	1	1	1	0	0	0	0	0	0	0	1	8972	1103	39	1		1	LRCH3	3	197544071	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	13688073	197544071	478359	38	38											
GABRA4	2557	broad.mit.edu	37	chr4	46979145	46979145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatctcatgggacactcCgcacttatggtgagtctatg	9	11	2	1	rs556582200		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:46979145C>T	ENST00000264318.3	-	5	1492	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	170					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGGACACTCCGCACTTATGG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		13340	0.0		0.0	False		,,,				2504	0.001				Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(508-510)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						52	50	51					4																	46979145		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979145C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.510G>A	4.37:g.46979145C>T							p.A170A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			5	1492	-			170					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.510G>A	CCDS3473.1																																																																																				0.343	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			33	183	0	0	0	1	0	33	183					T	46979145	C	T	46979145	2	4	1	1	0	0	0	0	0	0	0	1	6190	639	23	1		1	GABRA4	4	46979145	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		46979145	144175131	39	39											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68699089	68699089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttattaggtctggaccGgccccacattctaatgagaa	9	9	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:68699089G>A	ENST00000283916.6	-	7	623	c.525C>T	c.(523-525)gcC>gcT	p.A175A	TMPRSS11D_ENST00000545541.1_Silent_p.A58A|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	175					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCTGGACCGGCCCCACATT	0.463																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(523-525)gcC>gcT		transmembrane protease, serine 11D							111	105	107					4																	68699089		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68699089G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.525C>T	4.37:g.68699089G>A						TMPRSS11D_ENST00000545541.1_Silent_p.A58A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	p.A175A	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			7	623	-			175					Q08AF6	Silent	SNP	ENST00000283916.6	37	c.525C>T	CCDS3518.1																																																																																				0.463	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		22	694	0	0	0	1	0	22	694					A	68699089	G	A	68699089	2	1	1	1	0	0	0	0	0	0	0	1	16293	1103	39	1		1	TMPRSS11D	4	68699089	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	21719944	68699089	122455187	40	40											
SDHA	6389	broad.mit.edu	37	chr5	236617	236617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggccgcctgtgcctcGgtacatggtgccaaccgcct	15	14	0	0	rs200223188	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000504309.1_Silent_p.S445S|SDHA_ENST00000510361.1_Silent_p.S397S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial Paragangliomas				G|||	2	0.000399361	0.0015	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0					ENST00000264932.6																			1	Substitution - coding silent(1)	p.S445S(1)	breast(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1333-1335)tcG>tcT		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						73	67	69					5																	236617		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236617G>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1335G>T	5.37:g.236617G>T						SDHA_ENST00000510361.1_Silent_p.S397S|SDHA_ENST00000504309.1_Silent_p.S445S	p.S445S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1450	+			445					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1335G>T	CCDS3853.1																																																																																				0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	350	1	0	1.23904e-05	1	1.27957e-05	5	350					T	236617	G	T	236617	2	4	1	1	0	0	0	0	0	0	0	1	14013	1103	39	3		3	SDHA	5	236617	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		236617	180678643	41	41											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		10	197						10	197	---	---	---	---	-	1879671	CCT	-	1879669	7	5	1	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-2J-AAB1-01A-11D-A40W-08	1643052	1879669	179035591	42	42											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242275	5242275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacacttgggccatcgtgcGctctgagtgctccgtgtcct	11	14	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:5242275G>A	ENST00000274181.7	+	17	2771	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	878	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						GCCATCGTGCGCTCTGAGTGC	0.642																																						ENST00000274181.7																			0				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						c.(2632-2634)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							45	50	49					5																	5242275		2104	4223	6327	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242275G>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.2633G>A	5.37:g.5242275G>A	ENSP00000274181:p.Arg878His						p.R878H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			17	2771	+			878			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2633G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458019	0.26161	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.61274	0.12	5.73	2.91	0.33838	.	0.432157	0.23055	N	0.052451	T	0.45796	0.1360	L	0.52759	1.655	0.42913	D	0.994269	B;B	0.20550	0.046;0.021	B;B	0.12837	0.006;0.008	T	0.35351	-0.9792	10	0.49607	T	0.09	.	4.6802	0.12731	0.3127:0.152:0.5352:0.0	.	878;878	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	878	ENSP00000274181:R878H	ENSP00000274181:R878H	R	+	2	0	ADAMTS16	5295275	0.049000	0.20398	0.169000	0.22859	0.931000	0.56810	1.271000	0.33098	0.328000	0.23435	0.644000	0.83932	CGC		0.642	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		29	170	0	0	0	1	0	29	170					A	5242275	G	A	5242275	3	1	1	1	0	0	0	0	1	0	0	0	261	1087	38	1	2699	1	ADAMTS16	5	5242275	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3362606	5242275	175672985	43	43											
SEMA5A	9037	broad.mit.edu	37	chr5	9197372	9197372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggcctgcgcgatggCgctcaggttgaagacgcaca	15	10	1	3	rs369851619		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:9197372C>T	ENST00000382496.5	-	10	1641	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	326	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCGCGATGGCGCTCAGGTTG	0.597																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(976-978)Gcc>Acc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	THR/ALA	0,4406		0,0,2203	82	82	82		976	4.5	1	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA5A	NM_003966.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	326/1075	9197372	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197372C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.976G>A	5.37:g.9197372C>T	ENSP00000371936:p.Ala326Thr						p.A326T	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1641	-			326			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.976G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910739	0.72983	0.0	1.16E-4	ENSG00000112902	ENST00000382496	T	0.22539	1.95	5.35	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.049884	0.85682	N	0.000000	T	0.34978	0.0916	L	0.43701	1.375	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	T	0.03017	-1.1082	10	0.34782	T	0.22	.	11.7948	0.52093	0.0:0.9145:0.0:0.0855	.	326	Q13591	SEM5A_HUMAN	T	326	ENSP00000371936:A326T	ENSP00000371936:A326T	A	-	1	0	SEMA5A	9250372	1.000000	0.71417	0.971000	0.41717	0.171000	0.22731	4.769000	0.62300	1.385000	0.46445	0.650000	0.86243	GCC		0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			54	389	0	0	0	1	0	54	389					T	9197372	C	T	9197372	3	4	1	1	0	0	0	0	1	0	0	0	14087	768	27	1	2304	1	SEMA5A	5	9197372	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3955097	9197372	171717888	44	44											
APC	324	broad.mit.edu	37	chr5	112176765	112176765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattccaaggtcttcaatgAtaagctcccaaataatgaag	6	8	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:112176765A>G	ENST00000457016.1	+	16	5854	c.5474A>G	c.(5473-5475)gAt>gGt	p.D1825G	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G			P25054	APC_HUMAN	adenomatous polyposis coli	1825	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCTTCAATGATAAGCTCCCA	0.333		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(5473-5475)gAt>gGt		adenomatous polyposis coli							74	70	71					5																	112176765		2201	4300	6501	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176765A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5474A>G	5.37:g.112176765A>G	ENSP00000413133:p.Asp1825Gly	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G|CTC-554D6.1_ENST00000520401.1_Intron	p.D1825G			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5854	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1825			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5474A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683218	0.29872	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90197	-2.63;-2.63;-2.63	6.07	6.07	0.98685	.	0.322819	0.37955	N	0.001867	D	0.84822	0.5557	L	0.27053	0.805	0.39105	D	0.961357	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80569	-0.1324	9	.	.	.	-12.6701	16.6277	0.84984	1.0:0.0:0.0:0.0	.	1827;1825	Q4LE70;P25054	.;APC_HUMAN	G	1825	ENSP00000413133:D1825G;ENSP00000257430:D1825G;ENSP00000427089:D1825G	.	D	+	2	0	APC	112204664	1.000000	0.71417	0.582000	0.28627	0.778000	0.44026	7.395000	0.79876	2.330000	0.79161	0.528000	0.53228	GAT		0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		49	203	0	0	0	1	0	49	203					G	112176765	A	G	112176765	3	3	1	1	0	0	0	0	1	0	0	0	763	333	12	4	5532	4	APC	5	112176765	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	102979393	112176765	68738495	45	45											
ETF1	2107	broad.mit.edu	37	chr5	137844426	137844426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgtgacaatttccaacGtagctccaaattttttatag	5	8	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:137844426G>A	ENST00000360541.5	-	10	1384	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	ETF1_ENST00000503014.1_Missense_Mutation_p.T374M|ETF1_ENST00000499810.2_Missense_Mutation_p.T355M	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	388					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATTTCCAACGTAGCTCCAAA	0.413																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1063-1065)aCg>aTg		eukaryotic translation termination factor 1							173	178	176					5																	137844426		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844426G>A	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1163C>T	5.37:g.137844426G>A	ENSP00000353741:p.Thr388Met					ETF1_ENST00000360541.5_Missense_Mutation_p.T388M|ETF1_ENST00000503014.1_Missense_Mutation_p.T374M	p.T355M			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1512	-			388					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.1064C>T	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150639	0.78001	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	6.17	0.99709	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.88640	2.97	0.80722	D	1	D;P	0.64830	0.994;0.607	P;B	0.57324	0.818;0.087	D	0.83814	0.0243	9	0.51188	T	0.08	-6.0305	20.4745	0.99168	0.0:0.0:1.0:0.0	.	374;388	B7Z7P8;P62495	.;ERF1_HUMAN	M	355;388;374	.	ENSP00000353741:T388M	T	-	2	0	ETF1	137872325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.857000	0.99534	2.941000	0.99782	0.655000	0.94253	ACG		0.413	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		6	878	0	0	0	1	0	6	878					A	137844426	G	A	137844426	3	1	1	1	0	0	0	0	1	0	0	0	5286	1145	40	1	158	1	ETF1	5	137844426	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	25667661	137844426	43070834	46	46											
PCDHA9	9752	broad.mit.edu	37	chr5	140229874	140229874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggtgcgcgcagtggaCgccgactcgggctacaacgc	17	12	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140229874C>T	ENST00000532602.1	+	1	2827	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA9_ENST00000378122.3_Silent_p.D598D|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GCGCAGTGGACGCCGACTCGG	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1792-1794)gaC>gaT									62	69	67					5																	140229874		2196	4267	6463	SO:0001819	synonymous_variant	0							g.chr5:140229874C>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.1794C>T	5.37:g.140229874C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D598D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.D598D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2518	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1794C>T	CCDS54920.1																																																																																				0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		76	311	0	0	0	1	0	76	311					T	140229874	C	T	140229874	2	4	1	1	0	0	0	0	0	0	0	1	11573	535	19	1		1	PCDHA9	5	140229874	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2385448	140229874	40685386	47	47											
PCDHA9	9752	broad.mit.edu	37	chr5	140230003	140230003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccctggacgaaacggaCgcaccgcgccagcgcctact	12	17	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140230003C>T	ENST00000532602.1	+	1	2956	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA9_ENST00000378122.3_Silent_p.D641D|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACGAAACGGACGCACCGCGCC	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1921-1923)gaC>gaT									59	61	60					5																	140230003		2197	4272	6469	SO:0001819	synonymous_variant	0							g.chr5:140230003C>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.1923C>T	5.37:g.140230003C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D641D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.D641D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2647	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1923C>T	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		53	320	0	0	0	1	0	53	320					T	140230003	C	T	140230003	2	4	1	1	0	0	0	0	0	0	0	1	11573	535	19	1		1	PCDHA9	5	140230003	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	129	140230003	40685257	48	48											
GLRA1	2741	broad.mit.edu	37	chr5	151271898	151271898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgggcctgatcctggcaTcatatccggaggttctcccc	10	13	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:151271898T>A	ENST00000455880.2	-	2	444	c.158A>T	c.(157-159)gAt>gTt	p.D53V	GLRA1_ENST00000274576.4_Missense_Mutation_p.D53V|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	53					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATCCTGGCATCATATCCGGA	0.498																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(157-159)gAt>gTt		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						103	93	97					5																	151271898		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151271898T>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.158A>T	5.37:g.151271898T>A	ENSP00000411593:p.Asp53Val					GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Missense_Mutation_p.D53V|GLRA1_ENST00000471351.2_5'UTR	p.D53V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	450	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	53					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.158A>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590090	0.86851	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.81415	-1.49;-1.49	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel ligand-binding (3);	0.116646	0.56097	D	0.000030	D	0.91506	0.7318	M	0.91612	3.225	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93395	0.6755	10	0.87932	D	0	.	15.5709	0.76337	0.0:0.0:0.0:1.0	.	53;53	P23415;P23415-2	GLRA1_HUMAN;.	V	53	ENSP00000274576:D53V;ENSP00000411593:D53V	ENSP00000274576:D53V	D	-	2	0	GLRA1	151252091	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	7.516000	0.81772	2.089000	0.63090	0.482000	0.46254	GAT		0.498	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			14	367	0	0	0	1	0	14	367					A	151271898	T	A	151271898	3	1	1	1	0	0	0	0	1	0	0	0	6483	1435	50	5	1247	5	GLRA1	5	151271898	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	11041895	151271898	29643362	49	49											
GEMIN5	25929	broad.mit.edu	37	chr5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactggtaatcttggccGtatgccctgagagggtccgg	13	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1915-1917)aCg>aTg		gem (nuclear organelle) associated protein 5							116	101	106					5																	154292538		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154292538G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1916C>T	5.37:g.154292538G>A	ENSP00000285873:p.Thr639Met						p.T639M	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	1991	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	639					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1916C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	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	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	315	0	0	0	1	0	5	315					A	154292538	G	A	154292538	3	1	1	1	0	0	0	0	1	0	0	0	6360	1145	40	1	2670	1	GEMIN5	5	154292538	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3020640	154292538	26622722	50	50											
GRM6	2916	broad.mit.edu	37	chr5	178413623	178413623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctggaagcggtacccGtcacaggcctcgcagtgcca	11	16	1	0	rs139758482	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:178413623G>A	ENST00000517717.1	-	9	1670	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	GRM6_ENST00000231188.5_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	544					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGGTACCCGTCACAGGCCT	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17212	0.0		0.0	False		,,,				2504	0.0					ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1630-1632)gaC>gaT		glutamate receptor, metabotropic 6		G		1,4405		0,1,2202	45	39	41		1632	-1.2	0.8	5	dbSNP_134	41	2,8592		0,2,4295	yes	coding-synonymous	GRM6	NM_000843.3		0,3,6497	AA,AG,GG		0.0233,0.0227,0.0231		544/878	178413623	3,12997	2203	4297	6500	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413623G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1632C>T	5.37:g.178413623G>A						GRM6_ENST00000517717.1_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA	p.D544D	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1810	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	544						Silent	SNP	ENST00000517717.1	37	c.1632C>T	CCDS4442.1																																																																																				0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			8	239	0	0	0	1	0	8	239					A	178413623	G	A	178413623	2	1	1	1	0	0	0	0	0	0	0	1	6831	1136	40	1		1	GRM6	5	178413623	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	24121085	178413623	2501637	51	51											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	288						9	288	---	---	---	---	A	46660415	-	A	46660414	7	5	1	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08		46660414	124454653	52	52											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	429						7	429	---	---	---	---	-	88144700	A	-	88144700	7	5	1	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-2J-AAB1-01A-11D-A40W-08	41484286	88144700	82970367	53	53											
T	6862	broad.mit.edu	37	chr6	166574388	166574388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctgggatgggcaggcattCcaaggctggaccaattgtca	14	9	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:166574388C>A	ENST00000296946.2	-	8	1439	c.971G>T	c.(970-972)gGa>gTa	p.G324V	T_ENST00000366871.3_Missense_Mutation_p.G266V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	324					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II 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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCAGGCATTCCAAGGCTGGA	0.522									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(970-972)gGa>gTa		T, brachyury homolog (mouse)							171	150	157					6																	166574388		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166574388C>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.971G>T	6.37:g.166574388C>A	ENSP00000296946:p.Gly324Val					T_ENST00000366871.3_Missense_Mutation_p.G266V	p.G324V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	8	1439	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	324					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.971G>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798999	0.16397	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83837	-1.75;-1.77	4.88	4.88	0.63580	.	0.142303	0.47852	D	0.000214	T	0.72179	0.3428	M	0.64997	1.995	0.58432	D	0.999998	P;P;P	0.37914	0.611;0.57;0.565	B;B;B	0.38106	0.265;0.142;0.146	T	0.73341	-0.4013	10	0.33141	T	0.24	.	10.9779	0.47478	0.0:0.9145:0.0:0.0855	.	266;324;266	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	V	324;324;266	ENSP00000296946:G324V;ENSP00000355836:G266V	ENSP00000296946:G324V	G	-	2	0	T	166494378	0.999000	0.42202	0.077000	0.20336	0.013000	0.08279	3.928000	0.56506	2.409000	0.81822	0.655000	0.94253	GGA		0.522	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		9	312	1	0	1.76689e-08	1	1.85945e-08	9	312					A	166574388	C	A	166574388	3	1	1	1	0	0	0	0	1	0	0	0	15540	855	30	3	344	3	T	6	166574388	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	78429688	166574388	4540679	54	54											
USP42	84132	broad.mit.edu	37	chr7	6185257	6185257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacactggttttaattgCcatgctggccattacttctg	8	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6185257C>T	ENST00000306177.5	+	10	1259	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	367	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTTTAATTGCCATGCTGGCC	0.423																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1099-1101)tgC>tgT		ubiquitin specific peptidase 42							138	122	127					7																	6185257		1913	4121	6034	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6185257C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1101C>T	7.37:g.6185257C>T							p.C367C	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	10	1259	+		Ovarian(82;0.0423)	367					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1101C>T	CCDS47535.1																																																																																				0.423	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		4	154	0	0	0	1	0	4	154					T	6185257	C	T	6185257	2	4	1	1	0	0	0	0	0	0	0	1	17127	747	26	2		2	USP42	7	6185257	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		6185257	152953406	55	55											
KCND2	3751	broad.mit.edu	37	chr7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcctgaatttctaccGcactgggaagctccactatc	6	15	1	1	rs377746178		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AATTTCTACCGCACTGGGAAG	0.522																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(298-300)cGc>cAc		potassium voltage-gated channel, Shal-related subfamily, member 2							142	143	142					7																	119914985		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914985G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.299G>A	7.37:g.119914985G>A	ENSP00000333496:p.Arg100His						p.R100H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1264	+	all_neural(327;0.117)		100					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.299G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840334	0.91117	.	.	ENSG00000184408	ENST00000331113	T	0.55760	0.5	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86200	0.1618	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	100	Q9NZV8	KCND2_HUMAN	H	100	ENSP00000333496:R100H	.	R	+	2	0	KCND2	119702221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.062000	0.89475	2.709000	0.92574	0.655000	0.94253	CGC		0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		19	891	0	0	0	1	0	19	891					A	119914985	G	A	119914985	3	1	1	1	0	0	0	0	1	0	0	0	8049	1087	38	1	301	1	KCND2	7	119914985	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	113729728	119914985	39223678	56	56											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651648	121651648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaagttacttcagctaccGagagtgataaggtgcccttg	10	10	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:121651648G>A	ENST00000393386.2	+	12	2959	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	850					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E850K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAGCTACCGAGAGTGATAA	0.478																																						ENST00000393386.2																			1	Substitution - Missense(1)	p.E850K(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2548-2550)Gag>Aag		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							135	126	129					7																	121651648		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651648G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2548G>A	7.37:g.121651648G>A	ENSP00000377047:p.Glu850Lys					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E850K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2959	+			850					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2548G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190780	0.38707	.	.	ENSG00000106278	ENST00000393386	T	0.48836	0.8	5.71	3.81	0.43845	.	0.459334	0.21658	N	0.071069	T	0.38585	0.1046	M	0.63428	1.95	0.80722	D	1	P	0.41710	0.76	B	0.30943	0.122	T	0.40646	-0.9552	10	0.52906	T	0.07	.	9.8396	0.40991	0.0735:0.1382:0.7883:0.0	.	850	P23471	PTPRZ_HUMAN	K	850	ENSP00000377047:E850K	ENSP00000377047:E850K	E	+	1	0	PTPRZ1	121438884	1.000000	0.71417	0.927000	0.36925	0.883000	0.51084	2.369000	0.44231	1.428000	0.47296	-0.128000	0.14901	GAG		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	480	0	0	0	1	0	5	480					A	121651648	G	A	121651648	3	1	1	1	0	0	0	0	1	0	0	0	12864	1059	37	1	2594	1	PTPRZ1	7	121651648	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1736663	121651648	37487015	57	57											
SSPO	23145	broad.mit.edu	37	chr7	149513539	149513539	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcgcccacgtcacGcagcaggtgggctgcttctc	11	16	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:149513539G>A	ENST00000378016.2	+	0	11160							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACGTCACGCAGCAGGTGG	0.692																																						ENST00000378016.2																			0													SCO-spondin							10	15	13					7																	149513539		2025	4138	6163			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149513539G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513539G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11160	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	44	0	0	0	1	0	8	44					A	149513539	G	A	149513539	1	1	1	0	1	0	0	0	0	0	0	0	15241	1074	38	1		1	SSPO	7	149513539	RNA	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	27861891	149513539	9625124	58	58											
GBX1	2636	broad.mit.edu	37	chr7	150845978	150845978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtaaatgctgtgcggcGccgtcggcttttccccccag	13	14	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:150845978G>A	ENST00000297537.4	-	2	789	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	264					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGTGCGGCGCCGTCGGCTT	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(790-792)Cgc>Tgc		gastrulation brain homeobox 1							69	78	75					7																	150845978		1984	4141	6125	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845978G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.790C>T	7.37:g.150845978G>A	ENSP00000297537:p.Arg264Cys						p.R264C	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	789	-			264						Missense_Mutation	SNP	ENST00000297537.4	37	c.790C>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618919	0.66787	.	.	ENSG00000164900	ENST00000297537	D	0.96427	-4.01	4.91	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96269	0.9197	10	0.59425	D	0.04	-27.2835	11.9878	0.53157	0.0:0.0:0.8268:0.1732	.	264	Q14549	GBX1_HUMAN	C	264	ENSP00000297537:R264C	ENSP00000297537:R264C	R	-	1	0	GBX1	150476911	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.712000	0.25779	2.572000	0.86782	0.591000	0.81541	CGC		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			23	502	0	0	0	1	0	23	502					A	150845978	G	A	150845978	3	1	1	1	0	0	0	0	1	0	0	0	6308	1087	38	1	304	1	GBX1	7	150845978	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1332439	150845978	8292685	59	59											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	439						9	439	---	---	---	---	-	30945379	AAG	-	30945377	7	5	1	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-2J-AAB1-01A-11D-A40W-08		30945377	115418645	60	60											
AQP7	364	broad.mit.edu	37	chr9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G													agcaatgaaggtgaagatgcINSgggggggcaggtcccgggac					rs369644615|rs3215969|rs139024279		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)cgcfs	p.R142fs	AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.R177fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.R234fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579																																						ENST00000537089.1																			1	Insertion - Frameshift(1)	p.R234fs*35(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(424-426)catfs		aquaporin 7																																				SO:0001589	frameshift_variant	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385689_33385690insG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.425dupC	9.37:g.33385696_33385696dupG	ENSP00000441619:p.Arg142fs					AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs	p.H142fs			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	742_743	-			234					Q08E94|Q5T5L9|Q8NHM3	Frame_Shift_Ins	INS	ENST00000537089.1	37	c.424_425insC																																																																																					0.579	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	707						7	707	---	---	---	---	G	33385690	-	G	33385689	7	5	1	1	0	1	1	0	0	0	0	0	831	768	27	0	335	0	AQP7	9	33385689	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08		33385689	107827742	61	61											
KIF24	347240	broad.mit.edu	37	chr9	34256356	34256356	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acaactgggccccctgtgctCtctgccactagactgtgcgt	10	15	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:34256356C>G	ENST00000402558.2	-	10	3273	c.3249G>C	c.(3247-3249)gaG>gaC	p.E1083D	KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D|KIF24_ENST00000379166.2_Missense_Mutation_p.E1083D			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1083					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCCTGTGCTCTCTGCCACTA	0.602																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3247-3249)gaG>gaC		kinesin family member 24							46	39	41					9																	34256356		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256356C>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3249G>C	9.37:g.34256356C>G	ENSP00000384433:p.Glu1083Asp					KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000402558.2_Missense_Mutation_p.E1083D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D	p.E1083D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3368	-			1083					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3249G>C	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.837588|1.837588	0.32513|0.32513	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188|ENST00000443226	T;T;T;T|.	0.73152|.	-0.5;-0.72;-0.5;-0.72|.	4.71|4.71	-2.5|-2.5	0.06384|0.06384	.|.	0.770342|0.770342	0.11063|0.11063	N|N	0.603757|0.603757	T|T	0.30135|0.30135	0.0755|0.0755	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.34527|0.34527	-0.9825|-0.9825	10|7	0.40728|0.20046	T|T	0.16|0.44	.|.	6.1763|6.1763	0.20444|0.20444	0.123:0.3985:0.0:0.4785|0.123:0.3985:0.0:0.4785	.|.	1083|.	Q5T7B8|.	KIF24_HUMAN|.	D|Q	1083;949;1083;949;1083|129	ENSP00000384433:E1083D;ENSP00000368472:E949D;ENSP00000368464:E1083D;ENSP00000340179:E949D|.	ENSP00000340179:E949D|ENSP00000414628:E129Q	E|E	-|-	3|1	2|0	KIF24|KIF24	34246356|34246356	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.120000|0.120000	0.20174|0.20174	-0.917000|-0.917000	0.04025|0.04025	-0.108000|-0.108000	0.12066|0.12066	0.563000|0.563000	0.77884|0.77884	GAG|GAG		0.602	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			13	194	0	0	0	1	0	13	194					G	34256356	C	G	34256356	3	3	1	1	0	0	0	0	1	0	0	0	8322	912	32	5	869	5	KIF24	9	34256356	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	870667	34256356	106957075	62	62											
ROR2	4920	broad.mit.edu	37	chr9	94493239	94493239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtacgtttttattctgcGtaaagcaccaggggccctcc	10	12	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:94493239G>A	ENST00000375708.3	-	7	1334	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	ROR2_ENST00000375715.1_Missense_Mutation_p.T239M|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	379	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTATTCTGCGTAAAGCACCA	0.527																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1135-1137)aCg>aTg		receptor tyrosine kinase-like orphan receptor 2							86	78	81					9																	94493239		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493239G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1136C>T	9.37:g.94493239G>A	ENSP00000364860:p.Thr379Met					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T239M	p.T379M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			7	1334	-			379			Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1136C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557372	0.86231	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.70986	-0.53;-0.53	3.95	3.95	0.45737	Kringle (4);Kringle-like fold (1);	0.000000	0.41605	U	0.000845	D	0.90417	0.7000	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.98;0.987	D	0.94624	0.7816	10	0.87932	D	0	.	16.5487	0.84458	0.0:0.0:1.0:0.0	.	379;379;239	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	M	239;379	ENSP00000364867:T239M;ENSP00000364860:T379M	ENSP00000364860:T379M	T	-	2	0	ROR2	93533060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.469000	0.97679	2.199000	0.70637	0.561000	0.74099	ACG		0.527	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			6	464	0	0	0	1	0	6	464					A	94493239	G	A	94493239	3	1	1	1	0	0	0	0	1	0	0	0	13577	1145	40	1	1707	1	ROR2	9	94493239	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	60236883	94493239	46720192	63	63											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacttcacatgatccGcaacaggggaaggcaaaagt	10	9	1	1	rs201598200		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130	118	121		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		5	533	0	0	0	1	0	5	533					A	111970268	G	A	111970268	3	1	1	1	0	0	0	0	1	0	0	0	5174	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17477029	111970268	29243163	64	64											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-													gacccggctttccacgagcaCttcttcttgtaagagtctgg					rs559478157		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(610-615)cac>ca		regulator of G-protein signaling 3																																				SO:0001651	inframe_deletion	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246504_116246506delCTT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.612_614delCTT	9.37:g.116246510_116246512delCTT	ENSP00000363255:p.Phe207del					RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del|RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del	p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	821_823	+			204			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	c.612_614delCTT	CCDS43869.1																																																																																				0.473	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		13	408						13	408	---	---	---	---	-	116246506	CTT	-	116246504	7	5	1	1	0	1	0	1	0	0	0	0	13356	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-2J-AAB1-01A-11D-A40W-08	4276236	116246504	24966927	65	65											
COL27A1	85301	broad.mit.edu	37	chr9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-													cgcggggggcccgaggcacaGcggcggcggcggcggcgcgc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(37-39)del		collagen, type XXVII, alpha 1				52,1722		7,38,842						1.8	1			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918267_116918269delGCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del						p.A18del	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			1	428_430	+			18					Q66K43|Q96JF7	In_Frame_Del	DEL	ENST00000356083.3	37	c.37_39delGCG	CCDS6802.1																																																																																				0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		8	125						8	125	---	---	---	---	-	116918269	GCG	-	116918267	7	5	1	1	0	1	0	1	0	0	0	0	3694	971	34	0	39	0	COL27A1	9	116918267	In_Frame_Del	DEL	GCG	TCGA-2J-AAB1-01A-11D-A40W-08	671763	116918267	24295164	66	66											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	12	11	1	0	rs571576756		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135	149	144					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		6	909	0	0	0	1	0	6	909					A	133364801	G	A	133364801	3	1	1	1	0	0	0	0	1	0	0	0	1062	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	16446534	133364801	7848630	67	67											
C9orf173	441476	broad.mit.edu	37	chr9	140146549	140146550	+	Frame_Shift_Ins	INS	-	-	C													gtacgagagtcctccccacaINScccccactacagcatcggct							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:140146549_140146550insC	ENST00000412566.1	+	3	374_375	c.365_366insC	c.(364-369)caccccfs	p.HP122fs	C9orf173_ENST00000388931.3_Frame_Shift_Ins_p.HP122fs			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	122										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						TCCTCCCCACACCCCCACTACA	0.678																																						ENST00000388931.3																			0				kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						c.(364-366)cccfs		chromosome 9 open reading frame 173																																				SO:0001589	frameshift_variant	441476							g.chr9:140146549_140146550insC		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.370dupC	9.37:g.140146554_140146554dupC	ENSP00000391218:p.His122fs					C9orf173_ENST00000412566.1_Frame_Shift_Ins_p.P122fs	p.P122fs	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN			3	391_392	+			122					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Frame_Shift_Ins	INS	ENST00000412566.1	37	c.365_366insC	CCDS48065.1																																																																																				0.678	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		49	295						49	295	---	---	---	---	C	140146550	-	C	140146549	7	5	1	1	0	1	1	0	0	0	0	0	2479	159	6	0	375	0	C9orf173	9	140146549	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08	6781748	140146549	1066882	68	68											
WDR37	22884	broad.mit.edu	37	chr10	1149626	1149626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgactgccccaccatcCgcgtcccactgacatccctc	6	22	0	1	rs150728900		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:1149626C>A	ENST00000358220.1	+	10	955	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	WDR37_ENST00000263150.4_Missense_Mutation_p.R271S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	271										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CCCCACCATCCGCGTCCCACT	0.622																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(811-813)Cgc>Agc		WD repeat domain 37							77	69	72					10																	1149626		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1149626C>A	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.811C>A	10.37:g.1149626C>A	ENSP00000350954:p.Arg271Ser					WDR37_ENST00000263150.4_Missense_Mutation_p.R271S	p.R271S			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	955	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	271					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.811C>A	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976358	0.74360	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01265	5.08;5.08	5.95	4.98	0.66077	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	0.10981	0.0268	M	0.92604	3.325	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.65987	0.9;0.94	T	0.00033	-1.2272	10	0.72032	D	0.01	.	13.835	0.63404	0.2572:0.7428:0.0:0.0	.	272;271	A8K976;Q9Y2I8	.;WDR37_HUMAN	S	271	ENSP00000350954:R271S;ENSP00000263150:R271S	ENSP00000263150:R271S	R	+	1	0	WDR37	1139626	1.000000	0.71417	0.536000	0.28039	0.675000	0.39556	2.057000	0.41365	2.811000	0.96726	0.655000	0.94253	CGC		0.622	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		52	241	1	0	1.27102e-15	1	1.36357e-15	52	241					A	1149626	C	A	1149626	3	1	1	1	0	0	0	0	1	0	0	0	17345	652	23	3	845	3	WDR37	10	1149626	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		1149626	134385121	69	69											
NEBL	10529	broad.mit.edu	37	chr10	21098813	21098813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagccaggatctgtgcGccaaactttgaggtcttttg	13	8	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:21098813G>A	ENST00000377122.4	-	25	2929	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	845	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.R845C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATCTGTGCGCCAAACTTTG	0.383																																						ENST00000377122.4																			1	Substitution - Missense(1)	p.R845C(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2533-2535)Cgc>Tgc		nebulette							85	85	85					10																	21098813		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21098813G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2533C>T	10.37:g.21098813G>A	ENSP00000366326:p.Arg845Cys					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.R845C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			25	2929	-			845			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2533C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664498	0.88251	.	.	ENSG00000078114	ENST00000377122	T	0.09538	2.97	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.00069	-1.2136	10	0.62326	D	0.03	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	845	O76041	NEBL_HUMAN	C	845	ENSP00000366326:R845C	ENSP00000366326:R845C	R	-	1	0	NEBL	21138819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.001000	0.57046	2.866000	0.98385	0.650000	0.86243	CGC		0.383	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		67	219	0	0	0	1	0	67	219					A	21098813	G	A	21098813	3	1	1	1	0	0	0	0	1	0	0	0	10345	1087	38	1	527	1	NEBL	10	21098813	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19949187	21098813	114435934	70	70											
ANKRD26	22852	broad.mit.edu	37	chr10	27324564	27324565	+	Frame_Shift_Ins	INS	-	-	T													tcctcaaaacatttcttttcINStttttcctggttttgatttt							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:27324564_27324565insT	ENST00000376087.4	-	24	2979_2980	c.2814_2815insA	c.(2812-2817)aaagaafs	p.E939fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.E496fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.E955fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	938					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTTCTTTTCTTTTTCCTGGT	0.297																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2812-2817)aaaaaafs		ankyrin repeat domain 26																																				SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27324564_27324565insT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2815dupA	10.37:g.27324569_27324569dupT	ENSP00000365255:p.Glu939fs					ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.KK954fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.KK495fs	p.KK938fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	2979_2980	-			937					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Ins	INS	ENST00000376087.4	37	c.2814_2815insA	CCDS41499.1																																																																																				0.297	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			26	145						26	145	---	---	---	---	T	27324565	-	T	27324564	7	5	1	1	0	1	1	0	0	0	0	0	654	922	32	0	2361	0	ANKRD26	10	27324564	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08	6225751	27324564	108210183	71	71											
NT5C2	22978	broad.mit.edu	37	chr10	104934648	104934648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgacgatactttttcaggGcatgcttatccatgttagca	8	10	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104934648G>A	ENST00000404739.3	-	1	91	c.68C>T	c.(67-69)gCc>gTc	p.A23V	NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000343289.5_Missense_Mutation_p.A23V|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	23					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTTTTCAGGGCATGCTTATC	0.378																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(67-69)gCc>gTc		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						237	220	226					10																	104934648		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104934648G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.68C>T	10.37:g.104934648G>A	ENSP00000383960:p.Ala23Val					NT5C2_ENST00000404739.3_Missense_Mutation_p.A23V|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V	p.A23V	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	2	155	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	23					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.68C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240896	0.58995	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000452156	T;T;T	0.18502	2.21;2.21;2.22	5.39	4.49	0.54785	.	0.159024	0.56097	D	0.000039	T	0.10637	0.0260	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12142	-1.0559	10	0.24483	T	0.36	-2.4411	13.313	0.60390	0.0782:0.0:0.9218:0.0	.	23	P49902	5NTC_HUMAN	V	23	ENSP00000339479:A23V;ENSP00000383960:A23V;ENSP00000396468:A23V	ENSP00000339479:A23V	A	-	2	0	NT5C2	104924638	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.904000	0.69886	1.256000	0.44068	0.650000	0.86243	GCC		0.378	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		7	804	0	0	0	1	0	7	804					A	104934648	G	A	104934648	3	1	1	1	0	0	0	0	1	0	0	0	10729	1203	42	2	1685	2	NT5C2	10	104934648	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	77610084	104934648	30600099	72	72											
OR51I2	390064	broad.mit.edu	37	chr11	5475025	5475025	+	Missense_Mutation	SNP	C	C	A													cctgtctaattcagatgtttCttattcacttcttctccatg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475025C>A	ENST00000341449.2	+	1	388	c.307C>A	c.(307-309)Ctt>Att	p.L103I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGATGTTTCTTATTCACTT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(307-309)Ctt>Att		olfactory receptor, family 51, subfamily I, member 2							132	129	130					11																	5475025		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475025C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.307C>A	11.37:g.5475025C>A	ENSP00000341987:p.Leu103Ile					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L103I	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	388	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	103					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.307C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634332	0.47049	.	.	ENSG00000187918	ENST00000341449	T	0.40756	1.02	5.57	0.255	0.15561	GPCR, rhodopsin-like superfamily (1);	0.460534	0.20519	N	0.090739	T	0.22975	0.0555	L	0.28344	0.845	0.25272	N	0.989505	P	0.39665	0.682	B	0.31390	0.129	T	0.13202	-1.0518	10	0.87932	D	0	.	7.8771	0.29599	0.0:0.4244:0.0:0.5756	.	103	Q9H344	O51I2_HUMAN	I	103	ENSP00000341987:L103I	ENSP00000341987:L103I	L	+	1	0	OR51I2	5431601	0.000000	0.05858	0.991000	0.47740	0.981000	0.71138	-0.078000	0.11375	0.162000	0.19483	0.650000	0.86243	CTT		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		95	425	1	0	1.40862e-40	1	1.53352e-40	95	425					A	5475025	C	A	5475025	3	1	1	1	0	0	0	0	1	0	0	0	11143	913	32	3	309	3	OR51I2	11	5475025	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		5475025	129531491	73	73	1	2									
OR51I2	390064	broad.mit.edu	37	chr11	5475027	5475027	+	Silent	SNP	T	T	A													tgtctaattcagatgtttctTattcacttcttctccatgat							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475027T>A	ENST00000341449.2	+	1	390	c.309T>A	c.(307-309)ctT>ctA	p.L103L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTCTTATTCACTTCT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(307-309)ctT>ctA		olfactory receptor, family 51, subfamily I, member 2							132	128	129					11																	5475027		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475027T>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.309T>A	11.37:g.5475027T>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L103L	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	390	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	103					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.309T>A	CCDS31383.1																																																																																				0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		92	431	0	0	0	1	0	92	431					A	5475027	T	A	5475027	2	1	1	1	0	0	0	0	0	0	0	1	11143	1741	61	5		5	OR51I2	11	5475027	Silent	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	2	5475027	129531489	74	74	1	2									
KBTBD4	55709	broad.mit.edu	37	chr11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-													ccacttgcactgtgcgggccAaaaaccgagagcattcctca							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174	172	173					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		7	932						7	932	---	---	---	---	-	47599139	A	-	47599139	7	5	1	1	0	1	0	1	0	0	0	0	8025	131	5	0	1155	0	KBTBD4	11	47599139	Frame_Shift_Del	DEL	A	TCGA-2J-AAB1-01A-11D-A40W-08	42124112	47599139	87407377	75	75											
OR8J3	81168	broad.mit.edu	37	chr11	55905125	55905125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggaagaggggaatctGgagctctggacagctagaga	16	7	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:55905125G>T	ENST00000301529.1	-	1	69	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGGGAATCTGGAGCTCTGGA	0.488																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(70-72)Cag>Aag		olfactory receptor, family 8, subfamily J, member 3							117	117	117					11																	55905125		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905125G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.70C>A	11.37:g.55905125G>T	ENSP00000301529:p.Gln24Lys						p.Q24K	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	69	-	Esophageal squamous(21;0.00693)		24					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.70C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887120	0.52014	.	.	ENSG00000167822	ENST00000301529	T	0.00591	6.35	3.26	3.26	0.37387	.	0.000000	0.64402	D	0.000017	T	0.00998	0.0033	L	0.51422	1.61	0.21782	N	0.999543	P	0.47350	0.894	P	0.49853	0.624	T	0.51834	-0.8655	10	0.48119	T	0.1	.	8.7991	0.34898	0.0:0.1604:0.6748:0.1647	.	24	Q8NGG0	OR8J3_HUMAN	K	24	ENSP00000301529:Q24K	ENSP00000301529:Q24K	Q	-	1	0	OR8J3	55661701	0.879000	0.30193	0.274000	0.24659	0.245000	0.25701	1.766000	0.38491	1.548000	0.49413	0.289000	0.19496	CAG		0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		110	437	1	0	8.98033e-41	1	9.82502e-41	110	437					T	55905125	G	T	55905125	3	4	1	1	0	0	0	0	1	0	0	0	11284	1357	47	3	879	3	OR8J3	11	55905125	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	8305986	55905125	79101391	76	76											
DNAJC4	3338	broad.mit.edu	37	chr11	63999972	63999972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgagcgaggcataccGtgtgctcagccgtgagcaga	16	10	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:63999972G>A	ENST00000321685.3	+	4	716	c.251G>A	c.(250-252)cGt>cAt	p.R84H	VEGFB_ENST00000309422.2_5'Flank|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_Intron|DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	84	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GAGGCATACCGTGTGCTCAGC	0.632																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(250-252)cGt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 4							65	75	72					11																	63999972		2115	4223	6338	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999972G>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.251G>A	11.37:g.63999972G>A	ENSP00000396896:p.Arg84His					DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron	p.R84H	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			4	716	+			84			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.251G>A	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569823	0.28003	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.29917	1.55;1.55	4.04	-6.62	0.01813	Heat shock protein DnaJ, N-terminal (5);	0.346876	0.25135	N	0.032869	T	0.14614	0.0353	N	0.25890	0.77	0.25398	N	0.98846	P;B	0.38565	0.637;0.029	B;B	0.25506	0.061;0.011	T	0.02220	-1.1193	10	0.59425	D	0.04	-0.004	15.2131	0.73241	0.2268:0.0:0.7732:0.0	.	84;84	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	H	84	ENSP00000396896:R84H;ENSP00000320548:R84H	ENSP00000320548:R84H	R	+	2	0	DNAJC4	63756548	0.063000	0.20901	0.002000	0.10522	0.787000	0.44495	0.222000	0.17699	-1.482000	0.01860	-0.448000	0.05591	CGT		0.632	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			7	179	0	0	0	1	0	7	179					A	63999972	G	A	63999972	3	1	1	1	0	0	0	0	1	0	0	0	4665	1145	40	1	261	1	DNAJC4	11	63999972	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	8094847	63999972	71006544	77	77											
EXPH5	23086	broad.mit.edu	37	chr11	108382677	108382678	+	Frame_Shift_Ins	INS	-	-	G													ctctttctcagtgtattcttINSggaagttttccttttggtgt							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108382677_108382678insG	ENST00000265843.4	-	6	3666_3667	c.3556_3557insC	c.(3556-3558)caafs	p.Q1186fs	EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.Q1179fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.Q1110fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.Q998fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1186					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTGTATTCTTGGAAGTTTTCC	0.416																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3556-3558)agafs		exophilin 5																																				SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382677_108382678insG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3557dupC	11.37:g.108382679_108382679dupG	ENSP00000265843:p.Gln1186fs					EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.R1110fs|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.R998fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.R1179fs	p.R1186fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3666_3667	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1186					Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	c.3556_3557insC	CCDS8341.1																																																																																				0.416	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		91	487						91	487	---	---	---	---	G	108382678	-	G	108382677	7	5	1	1	0	1	1	0	0	0	0	0	5340	1812	63	0	2416	0	EXPH5	11	108382677	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08	44382705	108382677	26623839	78	78											
FDX1	2230	broad.mit.edu	37	chr11	110327723	110327723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagttagatgcaatcaCtgatgaggagaatgacatgc	12	5	1	6			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:110327723C>A	ENST00000260270.2	+	3	630	c.392C>A	c.(391-393)aCt>aAt	p.T131N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	131	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GATGCAATCACTGATGAGGAG	0.403																																						ENST00000260270.2																			0				lung(2)	2						c.(391-393)aCt>aAt		ferredoxin 1	Mitotane(DB00648)						259	223	236					11																	110327723		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327723C>A	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"adrenodoxin"	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.392C>A	11.37:g.110327723C>A	ENSP00000260270:p.Thr131Asn						p.T131N	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	630	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	131			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.392C>A	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222520	0.79464	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	4.55	0.56014	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.049070	0.85682	D	0.000000	T	0.66886	0.2835	L	0.52759	1.655	0.49483	D	0.999795	P	0.41366	0.747	P	0.49301	0.606	T	0.66284	-0.5962	9	0.39692	T	0.17	-2.2088	16.052	0.80772	0.0:0.8654:0.1346:0.0	.	131	P10109	ADX_HUMAN	N	131	.	ENSP00000260270:T131N	T	+	2	0	FDX1	109832933	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	4.678000	0.61641	1.304000	0.44892	0.561000	0.74099	ACT		0.403	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		12	689	1	0	0.010729	1	0.0107778	12	689					A	110327723	C	A	110327723	3	1	1	1	0	0	0	0	1	0	0	0	5829	565	20	3	402	3	FDX1	11	110327723	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1945046	110327723	24678793	79	79											
UBASH3B	84959	broad.mit.edu	37	chr11	122659916	122659916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaccagcaccagcgagGgttggatctatggcacgtcc	13	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122659916G>A	ENST00000284273.5	+	6	1255	c.880G>A	c.(880-882)Ggt>Agt	p.G294S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	294	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACCAGCGAGGGTTGGATCTA	0.532																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(880-882)Ggt>Agt		ubiquitin associated and SH3 domain containing B							180	173	175					11																	122659916		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659916G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.880G>A	11.37:g.122659916G>A	ENSP00000284273:p.Gly294Ser						p.G294S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1255	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	294			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.880G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789502	0.96945	.	.	ENSG00000154127	ENST00000284273	T	0.58797	0.31	5.86	5.86	0.93980	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84720	0.0739	10	0.87932	D	0	-7.8749	20.1931	0.98233	0.0:0.0:1.0:0.0	.	294	Q8TF42	UBS3B_HUMAN	S	294	ENSP00000284273:G294S	ENSP00000284273:G294S	G	+	1	0	UBASH3B	122165126	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.771000	0.95319	0.563000	0.77884	GGT		0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		192	816	0	0	0	1	0	192	816					A	122659916	G	A	122659916	3	1	1	1	0	0	0	0	1	0	0	0	16894	1232	43	2	902	2	UBASH3B	11	122659916	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	12332193	122659916	12346600	80	80											
UBASH3B	84959	broad.mit.edu	37	chr11	122667627	122667627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttcaggccgctacAtacgcaccaacctgaacatg	7	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122667627A>G	ENST00000284273.5	+	9	1618	c.1243A>G	c.(1243-1245)Ata>Gta	p.I415V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	415	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGGCCGCTACATACGCACCAA	0.473																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1243-1245)Ata>Gta		ubiquitin associated and SH3 domain containing B							164	131	143					11																	122667627		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122667627A>G	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1243A>G	11.37:g.122667627A>G	ENSP00000284273:p.Ile415Val						p.I415V	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	9	1618	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	415			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1243A>G	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	A	8.583	0.882830	0.17467	.	.	ENSG00000154127	ENST00000284273	T	0.04917	3.53	5.94	3.61	0.41365	Histidine phosphatase superfamily, clade-1 (1);	0.337134	0.34110	N	0.004260	T	0.01835	0.0058	N	0.00677	-1.265	0.31402	N	0.676504	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.15066	T	0.55	-1.7035	9.0924	0.36619	0.6732:0.0:0.3268:0.0	.	415	Q8TF42	UBS3B_HUMAN	V	415	ENSP00000284273:I415V	ENSP00000284273:I415V	I	+	1	0	UBASH3B	122172837	0.980000	0.34600	0.994000	0.49952	0.906000	0.53458	0.760000	0.26475	0.495000	0.27882	0.528000	0.53228	ATA		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		16	287	0	0	0	1	0	16	287					G	122667627	A	G	122667627	3	3	1	1	0	0	0	0	1	0	0	0	16894	217	8	4	1277	4	UBASH3B	11	122667627	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	7711	122667627	12338889	81	81											
PRB4	5545	broad.mit.edu	37	chr12	11461676	11461676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcctccttgtgggggtcGtccttctggctttcctggag	14	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:11461676G>A	ENST00000535904.1	-	3	274	c.241C>T	c.(241-243)Cga>Tga	p.R81*	PRB4_ENST00000279575.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	102	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGTGGGGGTCGTCCTTCTGGC	0.617										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(241-243)Cga>Tga		proline-rich protein BstNI subfamily 4							304	334	324					12																	11461676		2203	4300	6503	SO:0001587	stop_gained	5545					extracellular region		g.chr12:11461676G>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.241C>T	12.37:g.11461676G>A	ENSP00000442834:p.Arg81*	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*	p.R81*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	274	-			81	Missing (in Ref. 7; CAA30542).		9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Nonsense_Mutation	SNP	ENST00000535904.1	37	c.241C>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	11.73	1.724442	0.30593	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	.	.	.	0.805	0.805	0.18703	.	.	.	.	.	.	.	.	.	.	.	0.47374	A	0.999409	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	4.9008	0.13773	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000279575:R81X	R	-	1	2	PRB4	11352943	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.109000	0.10840	0.698000	0.31739	0.205000	0.17691	CGA		0.617	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		8	1375	0	0	0	1	0	8	1375					A	11461676	G	A	11461676	4	1	1	1	0	0	0	0	0	1	0	0	12492	1153	40	1	506	1	PRB4	12	11461676	Nonsense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		11461676	122390219	82	82											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	197	0	0	0	1	0	8	197					T	25398284	C	T	25398284	3	4	1	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	13936608	25398284	108453611	83	83	2	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	179	0	0	0	1	0	26	179					G	25398285	C	G	25398285	3	3	1	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1	25398285	108453610	84	84	2	2									
ARNTL2	56938	broad.mit.edu	37	chr12	27533278	27533278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaaccccatggcgcGtaaactggacaaacttacag	9	12	1	0	rs149871988		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:27533278G>A	ENST00000266503.5	+	5	443	c.425G>A	c.(424-426)cGt>cAt	p.R142H	ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R108H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCCATGGCGCGTAAACTGGAC	0.418																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(322-324)cGt>cAt		aryl hydrocarbon receptor nuclear translocator-like 2		G	HIS/ARG	0,4406		0,0,2203	128	115	119		425	2.4	0.1	12	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARNTL2	NM_020183.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	142/637	27533278	1,13005	2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27533278G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.425G>A	12.37:g.27533278G>A	ENSP00000266503:p.Arg142His					ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R142H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H	p.R108H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			4	542	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		142					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.323G>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.809399|2.809399	0.50421|0.50421	0.0|0.0	1.16E-4|1.16E-4	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	D;D;D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68|.	3.33|3.33	2.41|2.41	0.29592|0.29592	Helix-loop-helix DNA-binding (5);|.	0.166448|.	0.41294|.	N|.	0.000915|.	T|T	0.52933|0.52933	0.1765|0.1765	L|L	0.43701|0.43701	1.375|1.375	0.45962|0.45962	D|D	0.998786|0.998786	P;P;P;P;P;P|.	0.46578|.	0.507;0.708;0.647;0.647;0.501;0.88|.	B;B;B;B;B;P|.	0.44696|.	0.169;0.329;0.233;0.233;0.109;0.458|.	T|T	0.42932|0.42932	-0.9422|-0.9422	10|5	0.54805|.	T|.	0.06|.	.|.	8.1033|8.1033	0.30870|0.30870	0.1179:0.0:0.8821:0.0|0.1179:0.0:0.8821:0.0	.|.	105;108;105;94;128;142|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	H|I	108;105;105;128;94;142;57|94	ENSP00000442438:R108H;ENSP00000379238:R105H;ENSP00000438545:R105H;ENSP00000312247:R128H;ENSP00000261178:R94H;ENSP00000266503:R142H;ENSP00000445836:R57H|.	ENSP00000261178:R94H|.	R|V	+|+	2|1	0|0	ARNTL2|ARNTL2	27424545|27424545	0.987000|0.987000	0.35691|0.35691	0.059000|0.059000	0.19551|0.19551	0.969000|0.969000	0.65631|0.65631	6.556000|6.556000	0.73932|0.73932	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.418	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		5	444	0	0	0	1	0	5	444					A	27533278	G	A	27533278	3	1	1	1	0	0	0	0	1	0	0	0	969	1145	40	1	443	1	ARNTL2	12	27533278	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2134993	27533278	106318617	85	85											
MBD6	114785	broad.mit.edu	37	chr12	57919654	57919666	+	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	GGGGCCCCTGGGA	-													atgcacctgcccctggtcctGgggcccctgggaggggcccc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57919654_57919666delGGGGCCCCTGGGA	ENST00000355673.3	+	6	1259_1271	c.903_915delGGGGCCCCTGGGA	c.(901-915)ctggggcccctgggafs	p.LGPLG301fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	301	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTGGTCCTGGGGCCCCTGGGAGGGGCCCCCA	0.695																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(901-915)ctfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919654_57919666delGGGGCCCCTGGGA	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.903_915delGGGGCCCCTGGGA	12.37:g.57919654_57919666delGGGGCCCCTGGGA	ENSP00000347896:p.Leu301fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1259_1271	+			301			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.903_915delGGGGCCCCTGGGA	CCDS8944.1																																																																																				0.695	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			30	276						30	276	---	---	---	---	-	57919666	GGGGCCCCTGGGA	-	57919654	7	5	1	1	0	1	0	1	0	0	0	0	9389	1335	47	0	917	0	MBD6	12	57919654	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	TCGA-2J-AAB1-01A-11D-A40W-08	30386376	57919654	75932241	86	86											
SLC6A15	55117	broad.mit.edu	37	chr12	85255590	85255590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatgaggcttgtatcatCgccctctaagttcacaggct	10	10	3	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:85255590C>T	ENST00000266682.5	-	12	2555	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	672					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGTATCATCGCCCTCTAAG	0.423																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2014-2016)Gat>Aat		solute carrier family 6 (neutral amino acid transporter), member 15							127	124	125					12																	85255590		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255590C>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2014G>A	12.37:g.85255590C>T	ENSP00000266682:p.Asp672Asn					SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N	p.D672N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2555	-			672					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2014G>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699502	0.88830	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.77620	-0.93;-1.11	5.85	5.85	0.93711	.	0.182364	0.64402	D	0.000018	D	0.86581	0.5967	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85436	0.1152	10	0.49607	T	0.09	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	672	Q9H2J7	S6A15_HUMAN	N	672;565;150	ENSP00000266682:D672N;ENSP00000450145:D565N	ENSP00000266682:D672N	D	-	1	0	SLC6A15	83779721	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.665000	0.68052	2.753000	0.94483	0.655000	0.94253	GAT		0.423	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		124	507	0	0	0	1	0	124	507					T	85255590	C	T	85255590	3	4	1	1	0	0	0	0	1	0	0	0	14728	884	31	1	182	1	SLC6A15	12	85255590	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	27335936	85255590	48596305	87	87											
USP44	84101	broad.mit.edu	37	chr12	95922666	95922666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttcagtaaccagacatGgctgggaagcaatatctttt	8	8	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:95922666G>A	ENST00000258499.3	-	3	1829	c.1541C>T	c.(1540-1542)cCa>cTa	p.P514L	USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.P514L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	514	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACCAGACATGGCTGGGAAGC	0.393																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1540-1542)cCa>cTa		ubiquitin specific peptidase 44							104	100	102					12																	95922666		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95922666G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1541C>T	12.37:g.95922666G>A	ENSP00000258499:p.Pro514Leu					USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000537435.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron	p.P514L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			3	1829	-			514					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1541C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787659	0.70337	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.02631	4.22;4.22;4.22	5.94	5.94	0.96194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049563	0.85682	D	0.000000	T	0.06050	0.0157	L	0.31371	0.925	0.58432	D	0.999998	P	0.37731	0.607	P	0.45913	0.497	T	0.52845	-0.8521	10	0.35671	T	0.21	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	514	Q9H0E7	UBP44_HUMAN	L	514	ENSP00000258499:P514L;ENSP00000376806:P514L;ENSP00000442629:P514L	ENSP00000258499:P514L	P	-	2	0	USP44	94446797	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.662000	0.74426	2.826000	0.97356	0.561000	0.74099	CCA		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		50	247	0	0	0	1	0	50	247					A	95922666	G	A	95922666	3	1	1	1	0	0	0	0	1	0	0	0	17129	1348	47	2	613	2	USP44	12	95922666	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	10667076	95922666	37929229	88	88											
TMEM116	89894	broad.mit.edu	37	chr12	112374530	112374530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagtacaaagctgcccAggaaaatggcgataccataa	11	9	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112374530A>T	ENST00000550831.3	-	7	646	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000354825.3_Missense_Mutation_p.L93Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	93						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AAAGCTGCCCAGGAAAATGGC	0.478																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(277-279)cTg>cAg		transmembrane protein 116							139	123	128					12																	112374530		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112374530A>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.278T>A	12.37:g.112374530A>T	ENSP00000450377:p.Leu93Gln					TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Missense_Mutation_p.L93Q	p.L93Q			Q8NCL8	TM116_HUMAN			10	933	-			93					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.278T>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	a	19.40	3.819870	0.71028	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000014	T	0.58921	0.2156	L	0.59436	1.845	0.40890	D	0.98406	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63501	-0.6623	10	0.87932	D	0	-6.5126	11.3186	0.49407	1.0:0.0:0.0:0.0	.	150;185;93	G5E985;G3V1W7;Q8NCL8	.;.;TM116_HUMAN	Q	150;93;93;93;185	ENSP00000347620:L150Q;ENSP00000346883:L93Q;ENSP00000450377:L93Q;ENSP00000395861:L93Q;ENSP00000447731:L185Q	ENSP00000346883:L93Q	L	-	2	0	TMEM116	110858913	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.791000	0.62460	1.939000	0.56221	0.383000	0.25322	CTG		0.478	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		52	227	0	0	0	1	0	52	227					T	112374530	A	T	112374530	3	4	1	1	0	0	0	0	1	0	0	0	16082	188	7	5	475	5	TMEM116	12	112374530	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	16451864	112374530	21477365	89	89											
C12orf51	283450	broad.mit.edu	37	chr12	112605307	112605307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagctgctcctccccGtaggtgatggggctcggggt	16	12	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112605307G>A	ENST00000430131.2	-	71	12227	c.11082C>T	c.(11080-11082)taC>taT	p.Y3694Y	HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000550722.1_Silent_p.Y3970Y			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3694	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCCTCCCCGTAGGTGATGG	0.647																																						ENST00000550722.1																			0											c.(11908-11910)taC>taT		HECT domain containing E3 ubiquitin protein ligase 4							33	40	38					12																	112605307		1981	4147	6128	SO:0001819	synonymous_variant	283450							g.chr12:112605307G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11082C>T	12.37:g.112605307G>A						HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000430131.2_Silent_p.Y3694Y	p.Y3970Y	NM_001109662.3	NP_001103132.3					72	12305	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11910C>T																																																																																					0.647	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	159	0	0	0	1	0	4	159					A	112605307	G	A	112605307	2	1	1	1	0	0	0	0	0	0	0	1	1701	1140	40	1		1	C12orf51	12	112605307	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	230777	112605307	21246588	90	90											
TPCN1	53373	broad.mit.edu	37	chr12	113711435	113711435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgcgtcttcttcatcGtgtacctctccatcgagctg	9	14	4	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:113711435G>A	ENST00000335509.6	+	10	1218	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	TPCN1_ENST00000550785.1_Missense_Mutation_p.V374M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	302					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTTCTTCATCGTGTACCTCTC	0.557																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1120-1122)Gtg>Atg		two pore segment channel 1							285	219	241					12																	113711435		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113711435G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.904G>A	12.37:g.113711435G>A	ENSP00000335300:p.Val302Met					TPCN1_ENST00000335509.6_Missense_Mutation_p.V302M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	p.V374M	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			11	1289	+			302					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1120G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538199	0.85917	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.60845	1.875	0.47214	D	0.999354	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.66847	0.947;0.919;0.848	D	0.98287	1.0511	10	0.48119	T	0.1	-26.0173	12.9637	0.58472	0.0742:0.0:0.9258:0.0	.	302;374;302	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	M	302;374;374;234	ENSP00000335300:V302M;ENSP00000448083:V374M;ENSP00000438125:V374M;ENSP00000376350:V234M	ENSP00000335300:V302M	V	+	1	0	TPCN1	112195818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.600000	0.82769	2.656000	0.90262	0.655000	0.94253	GTG		0.557	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		116	606	0	0	0	1	0	116	606					A	113711435	G	A	113711435	3	1	1	1	0	0	0	0	1	0	0	0	16448	1145	40	1	1158	1	TPCN1	12	113711435	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1106128	113711435	20140460	91	91											
RSRC2	65117	broad.mit.edu	37	chr12	123005948	123005948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctttgcttctgctcCggctcctgtgttttcttcct	6	14	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:123005948C>T	ENST00000331738.7	-	3	336	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	64	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTTCTGCTCCGGCTCCTGTG	0.308																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(190-192)cGg>cAg		arginine/serine-rich coiled-coil 2							89	85	86					12																	123005948		2202	4299	6501	SO:0001583	missense	65117							g.chr12:123005948C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.191G>A	12.37:g.123005948C>T	ENSP00000330188:p.Arg64Gln					RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	p.R64Q	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	3	336	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		64			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.191G>A	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.700233|2.700233	0.48307|0.48307	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000354654;ENST00000528279|ENST00000331738;ENST00000418773	T|T	0.46063|0.20332	0.88|2.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.220291	.|0.47852	.|D	.|0.000206	T|T	0.16599|0.16599	0.0399|0.0399	N|N	0.19112|0.19112	0.55|0.55	0.26343|0.26343	N|N	0.977338|0.977338	P|D;D	0.41673|0.56521	0.759|0.976;0.976	B|B;B	0.30495|0.40825	0.116|0.341;0.341	T|T	0.07520|0.07520	-1.0768|-1.0768	9|10	0.41790|0.39692	T|T	0.15|0.17	.|.	19.2639|19.2639	0.93979|0.93979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	9|64;64	Q7L4I2-2|F5GXM2;Q7L4I2	.|.;RSRC2_HUMAN	R|Q	9|64	ENSP00000346678:G9R|ENSP00000330188:R64Q	ENSP00000346678:G9R|ENSP00000330188:R64Q	G|R	-|-	1|2	0|0	RSRC2|RSRC2	121571901|121571901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.313000|5.313000	0.65798|0.65798	2.541000|2.541000	0.85698|0.85698	0.555000|0.555000	0.69702|0.69702	GGA|CGG		0.308	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		4	253	0	0	0	1	0	4	253					T	123005948	C	T	123005948	3	4	1	1	0	0	0	0	1	0	0	0	13765	652	23	1	1179	1	RSRC2	12	123005948	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	9294513	123005948	10845947	92	92											
NOC4L	79050	broad.mit.edu	37	chr12	132635870	132635870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctttcacgtcaagtacCgcgcccgcttcttccacctg	7	17	4	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:132635870C>T	ENST00000330579.1	+	11	1071	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	344					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CGTCAAGTACCGCGCCCGCTT	0.652																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1030-1032)Cgc>Tgc		nucleolar complex associated 4 homolog (S. cerevisiae)							117	122	120					12																	132635870		2202	4299	6501	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132635870C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1030C>T	12.37:g.132635870C>T	ENSP00000328854:p.Arg344Cys					NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	p.R344C	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	11	1071	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		344					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1030C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755773	0.49362	.	.	ENSG00000184967	ENST00000330579	T	0.65178	-0.14	5.2	4.3	0.51218	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88477	0.3066	10	0.87932	D	0	-22.5329	15.3287	0.74190	0.0:0.8591:0.1409:0.0	.	344	Q9BVI4	NOC4L_HUMAN	C	344	ENSP00000328854:R344C	ENSP00000328854:R344C	R	+	1	0	NOC4L	131201823	1.000000	0.71417	0.489000	0.27452	0.056000	0.15407	2.615000	0.46368	1.165000	0.42670	0.561000	0.74099	CGC		0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		99	483	0	0	0	1	0	99	483					T	132635870	C	T	132635870	3	4	1	1	0	0	0	0	1	0	0	0	10557	652	23	1	1072	1	NOC4L	12	132635870	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	9629922	132635870	1216025	93	93											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		13	461						13	461	---	---	---	---	-	45148708	TGC	-	45148706	7	5	1	1	0	1	0	1	0	0	0	0	16660	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-2J-AAB1-01A-11D-A40W-08		45148706	70021172	94	94											
LRCH1	23143	broad.mit.edu	37	chr13	47266683	47266683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttttagccttctgacgaaGacactgttagcctcaatgtg	8	10	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:47266683G>T	ENST00000389798.3	+	8	1224	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000311191.6_Missense_Mutation_p.D343Y	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	343										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGACGAAGACACTGTTAG	0.418																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1027-1029)Gac>Tac		leucine-rich repeats and calponin homology (CH) domain containing 1							168	136	147					13																	47266683		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266683G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1027G>T	13.37:g.47266683G>T	ENSP00000374448:p.Asp343Tyr					LRCH1_ENST00000389798.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y	p.D343Y	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1256	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	343					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1027G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882904	0.72410	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929	T;T;T	0.59906	0.35;0.39;0.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	T	0.73448	-0.3979	10	0.21540	T	0.41	-24.1686	19.122	0.93367	0.0:0.0:1.0:0.0	.	343;343;343;343	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	Y	343;343;343;89	ENSP00000308493:D343Y;ENSP00000374448:D343Y;ENSP00000374447:D343Y	ENSP00000308493:D343Y	D	+	1	0	LRCH1	46164684	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.924000	0.87555	2.770000	0.95276	0.655000	0.94253	GAC		0.418	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		113	468	1	0	2.91849e-64	1	3.22494e-64	113	468					T	47266683	G	T	47266683	3	4	1	1	0	0	0	0	1	0	0	0	8970	942	33	3	1057	3	LRCH1	13	47266683	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2117977	47266683	67903195	95	95											
PCDH9	5101	broad.mit.edu	37	chr13	66878827	66878827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctcagtagcacctcctGcttgcttataagacttcaga	7	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:66878827G>A	ENST00000377865.2	-	4	3808	c.3674C>T	c.(3673-3675)gCa>gTa	p.A1225V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1225					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1225E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGCACCTCCTGCTTGCTTATA	0.438																																						ENST00000544246.1																			1	Substitution - Missense(1)	p.A1225E(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3673-3675)gCa>gTa		protocadherin 9							120	112	114					13																	66878827		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878827G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3674C>T	13.37:g.66878827G>A	ENSP00000367096:p.Ala1225Val					PCDH9_ENST00000377865.2_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V	p.A1225V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4365	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1225					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3674C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950604	0.53186	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57907	0.47;0.47;0.37;0.37	6.05	5.2	0.72013	.	0.461993	0.18412	N	0.142037	T	0.38374	0.1038	N	0.19112	0.55	0.32371	N	0.555834	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46803	-0.9165	10	0.56958	D	0.05	.	11.2657	0.49110	0.1389:0.0:0.8611:0.0	.	1183;1191;1225	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	V	1225;1225;1191;1191	ENSP00000442186:A1225V;ENSP00000367096:A1225V;ENSP00000401699:A1191V;ENSP00000332060:A1191V	ENSP00000332060:A1191V	A	-	2	0	PCDH9	65776828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.884000	0.56175	1.561000	0.49584	0.650000	0.86243	GCA		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		59	220	0	0	0	1	0	59	220					A	66878827	G	A	66878827	3	1	1	1	0	0	0	0	1	0	0	0	11560	1319	46	2	43	2	PCDH9	13	66878827	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19612144	66878827	48291051	96	96											
KLHL1	57626	broad.mit.edu	37	chr13	70535555	70535555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggccgcaaaatagtcGgagactgaactcagaacaag	10	9	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:70535555G>A	ENST00000377844.4	-	3	1461	c.702C>T	c.(700-702)tcC>tcT	p.S234S	KLHL1_ENST00000545028.1_Silent_p.S41S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	234	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.S234S(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)		CAAAATAGTCGGAGACTGAAC	0.453																																						ENST00000377844.4																			1	Substitution - coding silent(1)	p.S234S(1)	endometrium(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						c.(700-702)tcC>tcT		kelch-like family member 1							114	100	105					13																	70535555		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535555G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.702C>T	13.37:g.70535555G>A						KLHL1_ENST00000545028.1_Silent_p.S41S	p.S234S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1461	-		Breast(118;0.000162)	234			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.702C>T	CCDS9445.1																																																																																				0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		29	202	0	0	0	1	0	29	202					A	70535555	G	A	70535555	2	1	1	1	0	0	0	0	0	0	0	1	8395	1103	39	1		1	KLHL1	13	70535555	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3656728	70535555	44634323	97	97											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	343						8	343	---	---	---	---	-	88329796	CGG	-	88329794	7	5	1	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-2J-AAB1-01A-11D-A40W-08	17794239	88329794	26840084	98	98											
OR4M1	441670	broad.mit.edu	37	chr14	20248817	20248817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttggggcttcggagatGttcttgctcacagtgatggc	14	7	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:20248817G>A	ENST00000315957.4	+	1	417	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(334-336)atG>atA		olfactory receptor, family 4, subfamily M, member 1							240	252	248					14																	20248817		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248817G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.336G>A	14.37:g.20248817G>A	ENSP00000319654:p.Met112Ile						p.M112I	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	417	+	all_cancers(95;0.00108)		112					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.336G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	1.041	-0.678902	0.03378	.	.	ENSG00000176299	ENST00000315957	T	0.00388	7.59	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00210	0.0006	L	0.31207	0.915	0.27921	N	0.938258	B	0.30439	0.279	B	0.27608	0.081	T	0.41945	-0.9480	10	0.05959	T	0.93	-21.4932	14.6986	0.69139	0.0:0.0:1.0:0.0	.	112	Q8NGD0	OR4M1_HUMAN	I	112	ENSP00000319654:M112I	ENSP00000319654:M112I	M	+	3	0	OR4M1	19318657	0.000000	0.05858	1.000000	0.80357	0.945000	0.59286	-0.007000	0.12810	2.407000	0.81776	0.506000	0.49869	ATG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			129	1889	0	0	0	1	0	129	1889					A	20248817	G	A	20248817	3	1	1	1	0	0	0	0	1	0	0	0	11117	1377	48	2	338	2	OR4M1	14	20248817	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		20248817	87100723	99	99											
C14orf43	91748	broad.mit.edu	37	chr14	74205954	74205956	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgtggtTgctgctgctgctgctgcttc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:74205954_74205956delTGC	ENST00000286523.5	-	2	1538_1540	c.756_758delGCA	c.(754-759)cagcaa>caa	p.252_253QQ>Q	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.252_253QQ>Q|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	252	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ctgctgtggttgctgctgctgct	0.645																																						ENST00000286523.5																			0											c.(754-759)caa>ca		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205954_74205956delTGC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.756_758delGCA	14.37:g.74205963_74205965delTGC	ENSP00000286523:p.Gln253del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.QQ252del	p.QQ252del	NM_194278.3	NP_919254.2					2	1538_1540	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.756_758delGCA	CCDS9819.1																																																																																				0.645	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	148						7	148	---	---	---	---	-	74205956	TGC	-	74205954	7	5	1	1	0	1	0	1	0	0	0	0	1779	1812	63	0	2423	0	C14orf43	14	74205954	In_Frame_Del	DEL	TGC	TCGA-2J-AAB1-01A-11D-A40W-08	53957137	74205954	33143586	100	100											
DIO3	1735	broad.mit.edu	37	chr14	102028329	102028329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgctggttctcaatttcGgcagctgcacctgaccaccg	10	16	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:102028329G>A	ENST00000510508.4	+	1	642	c.496G>A	c.(496-498)Ggc>Agc	p.G166S	DIO3_ENST00000359323.3_Missense_Mutation_p.G140S|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	166					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTCAATTTCGGCAGCTGCAC	0.627																																						ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(496-498)Ggc>Agc		deiodinase, iodothyronine, type III							31	36	34					14																	102028329		2058	4203	6261	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028329G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.496G>A	14.37:g.102028329G>A	ENSP00000427336:p.Gly166Ser					DIO3_ENST00000359323.3_Missense_Mutation_p.G140S	p.G166S			P55073	IOD3_HUMAN			1	642	+		all_neural(303;0.185)	140					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.496G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030514	0.93575	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.57907	0.37;0.37	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.000000	0.47852	U	0.000217	T	0.75184	0.3815	M	0.91510	3.215	0.46927	D	0.999255	D	0.89917	1.0	D	0.64877	0.93	T	0.82051	-0.0649	10	0.59425	D	0.04	-16.4547	14.2065	0.65737	0.0:0.0:1.0:0.0	.	140	P55073	IOD3_HUMAN	S	140;166	ENSP00000352273:G140S;ENSP00000427336:G166S	ENSP00000352273:G166S	G	+	1	0	DIO3;AL049836.1	101098082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.515000	0.98015	1.799000	0.52666	0.462000	0.41574	GGC		0.627	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		13	237	0	0	0	1	0	13	237					A	102028329	G	A	102028329	3	1	1	1	0	0	0	0	1	0	0	0	4542	1116	39	1	498	1	DIO3	14	102028329	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	27822375	102028329	5321211	101	101											
FBN1	2200	broad.mit.edu	37	chr15	48704920	48704920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtttcctcggcccatgCccattccagaaacacagtgc	9	15	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:48704920C>T	ENST00000316623.5	-	65	8527	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2691					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)			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)		TCGGCCCATGCCCATTCCAGA	0.502																																						ENST00000316623.5																			0				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						c.(8071-8073)gGc>gAc		fibrillin 1							157	151	153					15																	48704920		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.chr15:48704920C>T	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.8072G>A	15.37:g.48704920C>T	ENSP00000325527:p.Gly2691Asp					FBN1_ENST00000561429.1_5'UTR	p.G2691D	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8527	-		all_lung(180;0.00279)	2691					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8072G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647484	0.87958	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.38	5.38	0.77491	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	D	0.85789	0.1366	10	0.27785	T	0.31	.	18.926	0.92544	0.0:1.0:0.0:0.0	.	2691	P35555	FBN1_HUMAN	D	2691	ENSP00000325527:G2691D	ENSP00000325527:G2691D	G	-	2	0	FBN1	46492212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	GGC		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	713	0	0	0	1	0	6	713					T	48704920	C	T	48704920	3	4	1	1	0	0	0	0	1	0	0	0	5727	739	26	2	551	2	FBN1	15	48704920	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		48704920	53826472	102	102											
ANPEP	290	broad.mit.edu	37	chr15	90334315	90334315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccgggttcagggtgtaGctcaggtacctaagagggcc	15	9	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:90334315G>A	ENST00000300060.6	-	19	2851	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	846	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCAGGGTGTAGCTCAGGTACC	0.532																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2536-2538)agC>agT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						146	129	134					15																	90334315		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90334315G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2538C>T	15.37:g.90334315G>A							p.S846S	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		19	2851	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		846			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2538C>T	CCDS10356.1																																																																																				0.532	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			13	363	0	0	0	1	0	13	363					A	90334315	G	A	90334315	2	1	1	1	0	0	0	0	0	0	0	1	710	962	34	2		2	ANPEP	15	90334315	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	41629395	90334315	12197077	103	103											
C16orf11	146325	broad.mit.edu	37	chr16	615296	615296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagcccccagggcGccgaggtctgacctgcagcg	15	16	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:615296G>A	ENST00000409413.3	+	3	1984	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T	NHLRC4_ENST00000424439.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank|PIGQ_ENST00000409527.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCAGGGCGCCGAGGTCTG	0.677																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1705-1707)Gcc>Acc		chromosome 16 open reading frame 11							6	7	7					16																	615296		1982	4129	6111	SO:0001583	missense	146325							g.chr16:615296G>A																												ENST00000409413.3:c.1705G>A	16.37:g.615296G>A	ENSP00000386499:p.Ala569Thr						p.A569T	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			3	1984	+			569					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1705G>A	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189481	0.38707	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.25	1.61	0.23674	.	1.152320	0.06446	N	0.726940	T	0.23766	0.0575	N	0.20986	0.625	0.09310	N	1	B	0.30021	0.265	B	0.20577	0.03	T	0.26573	-1.0099	9	0.87932	D	0	.	6.6076	0.22734	0.1873:0.0:0.6619:0.1507	.	569	P0CG20	CP011_HUMAN	T	569	.	ENSP00000386499:A569T	A	+	1	0	C16orf11	555297	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	0.126000	0.15769	0.554000	0.29061	0.491000	0.48974	GCC		0.677	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			11	37	0	0	0	1	0	11	37					A	615296	G	A	615296	3	1	1	1	0	0	0	0	1	0	0	0	1815	1087	38	1	1711	1	C16orf11	16	615296	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		615296	89739457	104	104											
CACNA1H	8912	broad.mit.edu	37	chr16	1256207	1256207	+	Missense_Mutation	SNP	C	C	A													gctttctgccagccctgcggCgccagctcgtggtgctggtg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256207C>A	ENST00000348261.5	+	12	2955	c.2707C>A	c.(2707-2709)Cgc>Agc	p.R903S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCCCTGCGGCGCCAGCTCGT	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2707-2709)Cgc>Agc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						30	37	35					16																	1256207		2140	4225	6365	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1256207C>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2707C>A	16.37:g.1256207C>A	ENSP00000334198:p.Arg903Ser					CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S	p.R903S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			12	2955	+		Hepatocellular(780;0.00369)	903					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2707C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880727	0.72294	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98474	-4.95;-4.95	3.96	3.96	0.45880	Ion transport (1);	0.127635	0.51477	N	0.000098	D	0.98632	0.9542	M	0.71920	2.185	0.35343	D	0.786673	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99970	1.1986	10	0.87932	D	0	.	15.1886	0.73025	0.0:1.0:0.0:0.0	.	903;903	O95180-2;O95180	.;CAC1H_HUMAN	S	903	ENSP00000334198:R903S;ENSP00000351401:R903S	ENSP00000334198:R903S	R	+	1	0	CACNA1H	1196208	0.986000	0.35501	0.999000	0.59377	0.794000	0.44872	2.180000	0.42537	2.050000	0.60909	0.561000	0.74099	CGC		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		9	39	1	0	1.58986e-06	1	1.64958e-06	9	39					A	1256207	C	A	1256207	3	1	1	1	0	0	0	0	1	0	0	0	2552	768	27	3	2749	3	CACNA1H	16	1256207	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	640911	1256207	89098546	105	105	3	2									
CACNA1H	8912	broad.mit.edu	37	chr16	1256208	1256208	+	Missense_Mutation	SNP	G	G	A													ctttctgccagccctgcggcGccagctcgtggtgctggtga							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256208G>A	ENST00000348261.5	+	12	2956	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCCCTGCGGCGCCAGCTCGTG	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2707-2709)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31	37	35					16																	1256208		2137	4226	6363	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1256208G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2708G>A	16.37:g.1256208G>A	ENSP00000334198:p.Arg903His					CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H	p.R903H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			12	2956	+		Hepatocellular(780;0.00369)	903					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2708G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982149	0.93044	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98474	-4.95;-4.95	3.96	3.96	0.45880	Ion transport (1);	0.127635	0.51477	D	0.000098	D	0.98896	0.9626	M	0.85542	2.76	0.40805	D	0.98337	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99884	1.1119	10	0.87932	D	0	.	15.1886	0.73025	0.0:0.0:1.0:0.0	.	903;903	O95180-2;O95180	.;CAC1H_HUMAN	H	903	ENSP00000334198:R903H;ENSP00000351401:R903H	ENSP00000334198:R903H	R	+	2	0	CACNA1H	1196209	1.000000	0.71417	0.993000	0.49108	0.785000	0.44390	9.153000	0.94687	2.050000	0.60909	0.561000	0.74099	CGC		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		9	38	0	0	0	1	0	9	38					A	1256208	G	A	1256208	3	1	1	1	0	0	0	0	1	0	0	0	2552	1087	38	1	2750	1	CACNA1H	16	1256208	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1	1256208	89098545	106	106	3	2									
CYLD	1540	broad.mit.edu	37	chr16	50827516	50827516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagtgtagagaatgctacGacgatccggacatctcagct	11	9	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:50827516G>A	ENST00000427738.3	+	16	2615	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000540145.1_Missense_Mutation_p.D804N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	804	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAATGCTACGACGATCCGGA	0.438			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2410-2412)Gac>Aac		cylindromatosis (turban tumor syndrome)							160	147	151					16																	50827516		1900	4129	6029	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50827516G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2410G>A	16.37:g.50827516G>A	ENSP00000392025:p.Asp804Asn					CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000427738.3_Missense_Mutation_p.D804N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N	p.D804N			Q9NQC7	CYLD_HUMAN			17	2825	+		all_cancers(37;0.0156)	804					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2410G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052407	0.75960	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.74002	-0.8;-0.8;-0.8	5.25	5.25	0.73442	.	0.188320	0.56097	D	0.000035	T	0.62183	0.2407	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.45176	0.852;0.821	B;B	0.40165	0.321;0.215	T	0.67011	-0.5778	10	0.45353	T	0.12	-19.1886	19.2041	0.93723	0.0:0.0:1.0:0.0	.	801;801	A8KAB0;Q9NQC7-2	.;.	N	804;804;801;801	ENSP00000445447:D804N;ENSP00000308928:D804N;ENSP00000381574:D801N	ENSP00000308928:D804N	D	+	1	0	CYLD	49385017	1.000000	0.71417	0.273000	0.24645	0.846000	0.48090	7.522000	0.81844	2.620000	0.88729	0.655000	0.94253	GAC		0.438	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			14	618	0	0	0	1	0	14	618					A	50827516	G	A	50827516	3	1	1	1	0	0	0	0	1	0	0	0	4154	1058	37	1	2468	1	CYLD	16	50827516	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	49571308	50827516	39527237	107	107											
CNGB1	1258	broad.mit.edu	37	chr16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-													actcagtcacctcctcctctTcctcctcctcctcctcttcc					rs141566950|rs528199212		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:57983275_57983277delTCC	ENST00000251102.8	-	14	1161_1163	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_ENST00000564654.1_5'Flank|CNGB1_ENST00000564448.1_In_Frame_Del_p.361_362EE>E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	367	Poly-Glu.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1081-1086)gaa>ga		cyclic nucleotide gated channel beta 1				50,422,3678		24,0,2,33,356,1660						-4.3	0.1		dbSNP_134	89	253,4,7879		123,0,7,0,4,3934	no	codingComplex	CNGB1	NM_001297.4		147,0,9,33,360,5594	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1588,11.3735,5.9336				303,426,11557				SO:0001651	inframe_deletion	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57983275_57983277delTCC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1101_1103delGGA	16.37:g.57983284_57983286delTCC	ENSP00000251102:p.Glu371del					CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del	p.EE363del			Q14028	CNGB1_HUMAN			14	1143_1145	-			369			Poly-Glu.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	In_Frame_Del	DEL	ENST00000251102.8	37	c.1083_1085delGGA	CCDS42169.1																																																																																				0.586	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		9	214						9	214	---	---	---	---	-	57983277	TCC	-	57983275	7	5	1	1	0	1	0	1	0	0	0	0	3609	1783	62	0	2732	0	CNGB1	16	57983275	In_Frame_Del	DEL	TCC	TCGA-2J-AAB1-01A-11D-A40W-08	7155759	57983275	32371478	108	108											
CES3	23491	broad.mit.edu	37	chr16	67006841	67006841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacccagtgccacgggcCggacagaagttcagggaggc	14	12	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67006841C>T	ENST00000303334.4	+	13	1676	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	535						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGCCACGGGCCGGACAGAAGT	0.582																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1603-1605)gcC>gcT		carboxylesterase 3							89	88	88					16																	67006841		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006841C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1605C>T	16.37:g.67006841C>T						CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	p.A535A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1676	+		Ovarian(137;0.0563)	535					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1605C>T	CCDS10826.1																																																																																				0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		18	366	0	0	0	1	0	18	366					T	67006841	C	T	67006841	2	4	1	1	0	0	0	0	0	0	0	1	3280	639	23	1		1	CES3	16	67006841	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	9023566	67006841	23347912	109	109											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139	137	138					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			12	556						12	556	---	---	---	---	-	67963919	T	-	67963919	7	5	1	1	0	1	0	1	0	0	0	0	4039	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-2J-AAB1-01A-11D-A40W-08	957078	67963919	22390834	110	110											
SMYD4	114826	broad.mit.edu	37	chr17	1703597	1703597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttcgttatgattttgCgaacatcctcaaatcccacc	5	12	1	1	rs535301214		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1703597C>T	ENST00000305513.7	-	5	1258	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	364	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TATGATTTTGCGAACATCCTC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		22688	0.001		0.0	False		,,,				2504	0.0					ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1090-1092)cGc>cAc		SET and MYND domain containing 4							126	119	121					17																	1703597		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703597C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1091G>A	17.37:g.1703597C>T	ENSP00000304360:p.Arg364His						p.R364H	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	1258	-			364					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1091G>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304550	0.23736	.	.	ENSG00000186532	ENST00000305513	T	0.10099	2.91	6.17	3.9	0.45041	SET domain (2);	0.633514	0.19290	N	0.117933	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.40660	0.726	P	0.44860	0.462	T	0.19224	-1.0312	10	0.45353	T	0.12	-4.1382	2.4272	0.04462	0.1423:0.5342:0.1385:0.1849	.	364	Q8IYR2	SMYD4_HUMAN	H	364	ENSP00000304360:R364H	ENSP00000304360:R364H	R	-	2	0	SMYD4	1650347	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.710000	0.25748	0.647000	0.30713	0.655000	0.94253	CGC		0.453	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		6	364	0	0	0	1	0	6	364					T	1703597	C	T	1703597	3	4	1	1	0	0	0	0	1	0	0	0	14874	768	27	1	1351	1	SMYD4	17	1703597	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		1703597	79491613	111	111											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840902	1840902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcggggctgaagtggcCgggctggaggaggccgatgc	21	9	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1840902C>T	ENST00000331238.6	-	2	693	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGAAGTGGCCGGGCTGGAGG	0.637																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(214-216)Ggc>Agc		reticulon 4 receptor-like 1							63	78	73					17																	1840902		2186	4273	6459	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840902C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.214G>A	17.37:g.1840902C>T	ENSP00000330631:p.Gly72Ser						p.G72S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	232	-			72						Missense_Mutation	SNP	ENST00000331238.6	37	c.214G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242161	0.79912	.	.	ENSG00000185924	ENST00000331238	T	0.02323	4.34	5.49	5.49	0.81192	.	0.000000	0.40064	N	0.001187	T	0.10895	0.0266	L	0.53780	1.695	0.80722	D	1	D	0.55605	0.972	P	0.59012	0.85	T	0.03051	-1.1078	10	0.38643	T	0.18	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	72	Q86UN2	R4RL1_HUMAN	S	72	ENSP00000330631:G72S	ENSP00000330631:G72S	G	-	1	0	RTN4RL1	1787652	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.813000	0.86123	2.606000	0.88127	0.650000	0.86243	GGC		0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		26	137	0	0	0	1	0	26	137					T	1840902	C	T	1840902	3	4	1	1	0	0	0	0	1	0	0	0	13781	652	23	1	1115	1	RTN4RL1	17	1840902	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	137305	1840902	79354308	112	112											
ALOX15	246	broad.mit.edu	37	chr17	4544868	4544868	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccccgtgctggccgaCcagccacagctgcacctggt	11	19	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:4544868C>G	ENST00000570836.1	-	2	175	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	27	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCTGGCCGACCAGCCACAGC	0.687																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(79-81)Gtc>Ctc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						29	28	28					17																	4544868		2198	4295	6493	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4544868C>G	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.79G>C	17.37:g.4544868C>G	ENSP00000458832:p.Val27Leu					ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L	p.V27L			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	2	175	-			27			PLAT.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.79G>C	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698666	0.68501	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.65549	-0.16;-0.16	5.33	3.31	0.37934	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.294429	0.26891	N	0.021975	T	0.68979	0.3060	M	0.88906	2.99	0.27340	N	0.956541	B;B;B	0.31859	0.106;0.343;0.129	B;B;B	0.38712	0.169;0.125;0.28	T	0.65940	-0.6046	10	0.66056	D	0.02	-16.6582	9.0593	0.36425	0.0:0.8459:0.0:0.1541	.	49;27;27	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	L	27;49	ENSP00000293761:V27L;ENSP00000439855:V49L	ENSP00000293761:V27L	V	-	1	0	ALOX15	4491617	1.000000	0.71417	0.921000	0.36526	0.960000	0.62799	2.813000	0.48002	0.607000	0.29982	0.655000	0.94253	GTC		0.687	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			36	152	0	0	0	1	0	36	152					G	4544868	C	G	4544868	3	3	1	1	0	0	0	0	1	0	0	0	538	507	18	5	1965	5	ALOX15	17	4544868	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2703966	4544868	76650342	113	113											
CHRNB1	1140	broad.mit.edu	37	chr17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-													tgctgacccttactgtgttcCtgctgctgctggctgacaaa							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)ctgdel	p.L294del	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TACTGTGTTCCTGCTGCTGCTGG	0.498																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(871-873)del		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001651	inframe_deletion	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7357666_7357668delCTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.871_873delCTG	17.37:g.7357675_7357677delCTG	ENSP00000304290:p.Leu294del					CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del	p.L294del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			8	938_940	+		Prostate(122;0.157)	294					B7Z5H1|Q8IZ46|Q96FB8	In_Frame_Del	DEL	ENST00000306071.2	37	c.871_873delCTG	CCDS11106.1																																																																																				0.498	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			7	721						7	721	---	---	---	---	-	7357668	CTG	-	7357666	7	5	1	1	0	1	0	1	0	0	0	0	3399	680	24	0	901	0	CHRNB1	17	7357666	In_Frame_Del	DEL	CTG	TCGA-2J-AAB1-01A-11D-A40W-08	2812798	7357666	73837544	114	114											
POLR2A	5430	broad.mit.edu	37	chr17	7401414	7401414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacttcaagaactagtgcGcagggggaacagccagtacc	12	10	1	2	rs141769858		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7401414G>A	ENST00000322644.6	+	8	1619	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	407					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAACTAGTGCGCAGGGGGAAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19258	0.0		0.0	False		,,,				2504	0.001					ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1219-1221)cGc>cAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa		G	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	98	86	90		1220	5.6	1	17	dbSNP_134	90	0,8600		0,0,4300	yes	missense	POLR2A	NM_000937.4	29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	possibly-damaging	407/1971	7401414	10,12996	2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7401414G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1220G>A	17.37:g.7401414G>A	ENSP00000314949:p.Arg407His					POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	p.R407H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			8	1619	+		Prostate(122;0.173)	407					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1220G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969615	0.74246	0.00227	0.0	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68765	-0.35	5.6	5.6	0.85130	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.86343	2.81	0.58432	D	0.999999	B;B	0.23490	0.086;0.024	B;B	0.22152	0.038;0.014	T	0.73572	-0.3940	10	0.62326	D	0.03	-11.3406	18.3894	0.90477	0.0:0.0:1.0:0.0	.	407;407	P24928;Q6NX41	RPB1_HUMAN;.	H	363;407	ENSP00000314949:R407H	ENSP00000314949:R407H	R	+	2	0	SLC35G6	7342138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.828000	0.92047	2.653000	0.90120	0.563000	0.77884	CGC		0.517	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		5	339	0	0	0	1	0	5	339					A	7401414	G	A	7401414	3	1	1	1	0	0	0	0	1	0	0	0	12256	1087	38	1	1250	1	POLR2A	17	7401414	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	43748	7401414	73793796	115	115											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	237	0	0	0	1	0	13	237					T	7578406	C	T	7578406	3	4	1	1	0	0	0	0	1	0	0	0	16434	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	176992	7578406	73616804	116	116											
MYH13	8735	broad.mit.edu	37	chr17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2	rs373857317	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17710	0.0		0.0	False		,,,				2504	0.002					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1330-1332)cGc>cAc		myosin, heavy chain 13, skeletal muscle		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177	166	170		1331	4.3	1	17		170	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYH13	NM_003802.2	29	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	444/1939	10248866	2,12998	2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248866C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1331G>A	17.37:g.10248866C>T	ENSP00000404570:p.Arg444His					MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H	p.R444H			Q9UKX3	MYH13_HUMAN			13	1494	-			444			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1331G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000706	0.93227	2.27E-4	1.16E-4	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.88741	-2.42	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.95484	0.8533	M	0.91300	3.195	0.47245	D	0.999364	D	0.67145	0.996	D	0.74348	0.983	D	0.96587	0.9435	9	0.87932	D	0	.	17.3699	0.87373	0.0:1.0:0.0:0.0	.	444	Q9UKX3	MYH13_HUMAN	H	444;119	ENSP00000252172:R444H	ENSP00000252172:R444H	R	-	2	0	MYH13	10189591	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.402000	0.81655	0.561000	0.74099	CGC		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	723	0	0	0	1	0	6	723					T	10248866	C	T	10248866	3	4	1	1	0	0	0	0	1	0	0	0	10073	768	27	1	4597	1	MYH13	17	10248866	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2670460	10248866	70946344	117	117											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		8	567						8	567	---	---	---	---	-	17394707	CAG	-	17394705	7	5	1	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-2J-AAB1-01A-11D-A40W-08	7145839	17394705	63800505	118	118											
MAP2K3	5606	broad.mit.edu	37	chr17	21208417	21208417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacaatgtcaagtccgacGtctggagcctgggcatcacc	11	13	3	0	rs150613942	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:21208417G>A	ENST00000342679.4	+	9	1000	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.V255I(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGTCCGACGTCTGGAGCCT	0.637																																						ENST00000342679.4																			1	Substitution - Missense(1)	p.V255I(1)	large_intestine(1)								c.(751-753)Gtc>Atc		mitogen-activated protein kinase kinase 3		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	159	134	143		664,751	5.1	1	17	dbSNP_134	143	12,8588	5.7+/-21.5	0,12,4288	yes	missense,missense	MAP2K3	NM_002756.4,NM_145109.2	29,29	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	benign,benign	222/319,251/348	21208417	13,12993	2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208417G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.751G>A	17.37:g.21208417G>A	ENSP00000345083:p.Val251Ile					MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	p.V251I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	1000	+			251			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.751G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369435	0.42003	2.27E-4	0.001395	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.40756	1.02;1.02	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.085299	0.46758	D	0.000277	T	0.19565	0.0470	N	0.02345	-0.59	0.58432	D	0.99999	B	0.10296	0.003	B	0.11329	0.006	T	0.08351	-1.0726	10	0.32370	T	0.25	-49.0281	11.9966	0.53206	0.0796:0.0:0.9204:0.0	.	251	P46734	MP2K3_HUMAN	I	251;222;222;255	ENSP00000345083:V251I;ENSP00000355081:V222I	ENSP00000319139:V255I	V	+	1	0	MAP2K3	21149010	1.000000	0.71417	0.951000	0.38953	0.735000	0.41995	3.362000	0.52314	2.387000	0.81309	0.462000	0.41574	GTC		0.637	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		21	539	0	0	0	1	0	21	539					A	21208417	G	A	21208417	3	1	1	1	0	0	0	0	1	0	0	0	9279	1145	40	1	785	1	MAP2K3	17	21208417	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3813712	21208417	59986793	119	119											
TOP2A	7153	broad.mit.edu	37	chr17	38564781	38564781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgagtttgggaattcccttGattctattatgttttacagc	8	7	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:38564781G>C	ENST00000423485.1	-	11	1463	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	435					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAATTCCCTTGATTCTATTAT	0.338																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1303-1305)atC>atG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						136	121	126					17																	38564781		1847	4102	5949	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564781G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1305C>G	17.37:g.38564781G>C	ENSP00000411532:p.Ile435Met						p.I435M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		11	1463	-		Breast(137;0.00328)	435					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1305C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632601	0.67015	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25250	1.81	5.5	4.51	0.55191	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	M	0.73372	2.23	0.58432	D	0.999992	P	0.50443	0.935	P	0.54460	0.753	T	0.14227	-1.0480	10	0.35671	T	0.21	.	8.5579	0.33492	0.232:0.0:0.7679:0.0	.	435	P11388	TOP2A_HUMAN	M	435;515;458;471	ENSP00000411532:I435M	ENSP00000269577:I515M	I	-	3	3	TOP2A	35818307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.709000	0.54853	1.277000	0.44412	0.591000	0.81541	ATC		0.338	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			9	249	0	0	0	1	0	9	249					C	38564781	G	C	38564781	3	2	1	1	0	0	0	0	1	0	0	0	16418	1280	45	5	3390	5	TOP2A	17	38564781	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17356364	38564781	42630429	120	120											
KRT38	8687	broad.mit.edu	37	chr17	39596894	39596894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgttttcaccataggCcccacagattccaatgttgc	9	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:39596894C>T	ENST00000246646.3	-	1	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	94	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCATAGGCCCCACAGATT	0.602																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(280-282)Gcc>Acc		keratin 38							93	84	87					17																	39596894		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596894C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.280G>A	17.37:g.39596894C>T	ENSP00000246646:p.Ala94Thr						p.A94T	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	279	-		Breast(137;0.000496)	94			Head.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.280G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500176	0.26861	.	.	ENSG00000171360	ENST00000246646	T	0.81330	-1.48	4.89	-9.78	0.00496	.	1.660260	0.03712	N	0.250436	T	0.55986	0.1955	N	0.11064	0.09	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.48139	-0.9061	10	0.26408	T	0.33	.	4.3812	0.11295	0.2664:0.4535:0.1747:0.1055	.	94	O76015	KRT38_HUMAN	T	94	ENSP00000246646:A94T	ENSP00000246646:A94T	A	-	1	0	KRT38	36850420	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.774000	0.01784	-2.506000	0.00507	-0.912000	0.02778	GCC		0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		69	312	0	0	0	1	0	69	312					T	39596894	C	T	39596894	3	4	1	1	0	0	0	0	1	0	0	0	8505	739	26	2	1118	2	KRT38	17	39596894	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1032113	39596894	41598316	121	121											
DHX58	79132	broad.mit.edu	37	chr17	40263826	40263826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgcccgggtcttccCggcacccgtgggcagccaga	14	17	1	1	rs377046797		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:40263826C>T	ENST00000251642.3	-	3	307	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	29	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGGGTCTTCCCGGCACCCGTG	0.592																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(85-87)Ggg>Agg		DEXH (Asp-Glu-X-His) box polypeptide 58		C	ARG/GLY	0,4406		0,0,2203	95	92	93		85	4	0.8	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX58	NM_024119.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	29/679	40263826	1,13005	2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263826C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.85G>A	17.37:g.40263826C>T	ENSP00000251642:p.Gly29Arg						p.G29R	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	307	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	29			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.85G>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089390	0.76756	0.0	1.16E-4	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	D;D;D	0.95554	-3.23;-3.74;-3.74	4.99	4.02	0.46733	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.99169	4.455	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98660	1.0683	10	0.87932	D	0	-2.8477	12.3178	0.54966	0.0:0.9172:0.0:0.0828	.	29;29	B7Z455;Q96C10	.;DHX58_HUMAN	R	29	ENSP00000251642:G29R;ENSP00000416389:G29R;ENSP00000404639:G29R	ENSP00000251642:G29R	G	-	1	0	DHX58	37517352	1.000000	0.71417	0.836000	0.33094	0.493000	0.33554	5.333000	0.65917	1.348000	0.45733	0.455000	0.32223	GGG		0.592	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		6	477	0	0	0	1	0	6	477					T	40263826	C	T	40263826	3	4	1	1	0	0	0	0	1	0	0	0	4530	652	23	1	1999	1	DHX58	17	40263826	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	666932	40263826	40931384	122	122											
ABCA9	10350	broad.mit.edu	37	chr17	67016614	67016614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcctccagagcgccaCgccactgattgttttccttg	9	15	0	2	rs61740908		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:67016614C>T	ENST00000340001.4	-	19	2726	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	839					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V839M(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGAGCGCCACGCCACTGATT	0.443																																						ENST00000340001.4																			1	Substitution - Missense(1)	p.V839M(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2515-2517)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							117	108	111					17																	67016614		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016614C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2515G>A	17.37:g.67016614C>T	ENSP00000342216:p.Val839Met					ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M|ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M	p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2726	-	Breast(10;1.47e-12)		839					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2515G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.305	-0.971160	0.02232	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.75938	-0.98;-0.98	5.08	-4.05	0.03998	.	0.703590	0.12727	N	0.444186	T	0.26593	0.0650	N	0.00413	-1.525	0.22684	N	0.998856	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.45205	-0.9277	10	0.02654	T	1	.	2.4227	0.04452	0.1895:0.1485:0.43:0.232	.	839;839	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	839;822;839;834	ENSP00000342216:V839M;ENSP00000359767:V839M	ENSP00000342216:V839M	V	-	1	0	ABCA9	64528209	0.000000	0.05858	0.810000	0.32431	0.644000	0.38419	-0.621000	0.05559	-0.594000	0.05836	-0.464000	0.05259	GTG		0.443	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		10	545	0	0	0	1	0	10	545					T	67016614	C	T	67016614	3	4	1	1	0	0	0	0	1	0	0	0	39	536	19	1	2443	1	ABCA9	17	67016614	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	26752788	67016614	14178596	123	123											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-													ttggacacttgggggatgggAaaaaaaatggatctggatgg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77	78	78		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	454						8	454	---	---	---	---	-	76046980	A	-	76046980	7	5	1	1	0	1	0	1	0	0	0	0	16394	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-2J-AAB1-01A-11D-A40W-08	9030366	76046980	5148230	124	124											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2	rs551732034		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59	50	53					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	126	0	0	0	1	0	4	126					A	77705082	G	A	77705082	3	1	1	1	0	0	0	0	1	0	0	0	5153	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1658102	77705082	3490128	125	125											
LAMA1	284217	broad.mit.edu	37	chr18	7023334	7023334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacagggaacacaagattCgccaggcactgttgggtttc	12	10	1	1	rs369294134		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:7023334C>T	ENST00000389658.3	-	19	2623	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	844	Laminin EGF-like 7. {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)			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)				ACACAAGATTCGCCAGGCACT	0.532																																						ENST00000389658.3																			0				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						c.(2530-2532)Gaa>Aaa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	LYS/GLU	0,4406		0,0,2203	103	95	98		2530	4.6	0.7	18		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	844/3076	7023334	1,13005	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.chr18:7023334C>T	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.2530G>A	18.37:g.7023334C>T	ENSP00000374309:p.Glu844Lys						p.E844K	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			19	2623	-		Colorectal(10;0.172)	844			Laminin EGF-like 7.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2530G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767948	0.31320	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.47	4.61	0.57282	EGF-like, laminin (4);	0.325995	0.26971	N	0.021577	T	0.49440	0.1557	L	0.52573	1.65	0.22745	N	0.99879	B	0.12013	0.005	B	0.10450	0.005	T	0.38478	-0.9659	10	0.31617	T	0.26	.	10.5047	0.44826	0.0:0.753:0.1702:0.0769	.	844	P25391	LAMA1_HUMAN	K	844	ENSP00000374309:E844K	ENSP00000374309:E844K	E	-	1	0	LAMA1	7013334	0.334000	0.24739	0.677000	0.29947	0.127000	0.20565	3.215000	0.51169	1.323000	0.45263	-0.149000	0.13747	GAA		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		49	170	0	0	0	1	0	49	170					T	7023334	C	T	7023334	3	4	1	1	0	0	0	0	1	0	0	0	8636	893	31	1	6877	1	LAMA1	18	7023334	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		7023334	71053914	126	126											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	265						9	265	---	---	---	---	-	12986929	TCC	-	12986927	6	5	1	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-2J-AAB1-01A-11D-A40W-08	5963593	12986927	65090321	127	127											
C19orf57	79173	broad.mit.edu	37	chr19	14006194	14006194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacctacctggagacgGcctttcctggttcctccccg	10	17	0	1	rs145142690		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:14006194G>A	ENST00000586783.1	-	2	196	c.197C>T	c.(196-198)gCc>gTc	p.A66V	C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V|C19orf57_ENST00000454313.1_Missense_Mutation_p.A66V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGGAGACGGCCTTTCCTGG	0.562																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(196-198)gCc>gTc		chromosome 19 open reading frame 57		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	165	144	151		197	-0.7	0	19	dbSNP_134	151	0,8600		0,0,4300	no	missense	C19orf57	NM_024323.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	66/638	14006194	1,13005	2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14006194G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.197C>T	19.37:g.14006194G>A	ENSP00000465822:p.Ala66Val					C19orf57_ENST00000586783.1_Missense_Mutation_p.A66V|C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V	p.A66V			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	255	-			66					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.197C>T		.	.	.	.	.	.	.	.	.	.	G	5.727	0.318640	0.10845	2.27E-4	0.0	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.35605	1.3;1.3	4.03	-0.708	0.11241	.	0.461071	0.16102	N	0.229524	T	0.15825	0.0381	N	0.12746	0.255	0.09310	N	1	B	0.16603	0.018	B	0.17433	0.018	T	0.12243	-1.0555	10	0.38643	T	0.18	-3.5745	3.3117	0.07018	0.2027:0.0:0.4413:0.356	.	66	Q0VDD7-2	.	V	66	ENSP00000404382:A66V;ENSP00000254336:A66V	ENSP00000254336:A66V	A	-	2	0	C19orf57	13867194	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.281000	0.08456	-0.011000	0.14247	-0.137000	0.14449	GCC		0.562	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		76	404	0	0	0	1	0	76	404					A	14006194	G	A	14006194	3	1	1	1	0	0	0	0	1	0	0	0	1946	1203	42	2	1740	2	C19orf57	19	14006194	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		14006194	45122789	128	128											
RHPN2	85415	broad.mit.edu	37	chr19	33517490	33517490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtctgagttgacgaaGctcagctccagccgcacttg	12	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:33517490G>T	ENST00000254260.3	-	3	269	c.234C>A	c.(232-234)agC>agA	p.S78R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	78					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTTGACGAAGCTCAGCTCCA	0.562																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(232-234)agC>agA		rhophilin, Rho GTPase binding protein 2							93	90	91					19																	33517490		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517490G>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.234C>A	19.37:g.33517490G>T	ENSP00000254260:p.Ser78Arg					RHPN2_ENST00000400226.4_5'UTR	p.S78R	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			3	269	-	Esophageal squamous(110;0.137)		78					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.234C>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355764	0.61293	.	.	ENSG00000131941	ENST00000254260	T	0.14144	2.53	3.88	0.595	0.17490	.	0.084723	0.85682	D	0.000000	T	0.31263	0.0791	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	T	0.04723	-1.0931	10	0.87932	D	0	-0.3659	6.8437	0.23977	0.4352:0.0:0.5648:0.0	.	78	Q8IUC4	RHPN2_HUMAN	R	78	ENSP00000254260:S78R	ENSP00000254260:S78R	S	-	3	2	RHPN2	38209330	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.028000	0.41088	0.415000	0.25817	0.557000	0.71058	AGC		0.562	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		9	837	1	0	6.72482e-11	1	7.14513e-11	9	837					T	33517490	G	T	33517490	3	4	1	1	0	0	0	0	1	0	0	0	13401	962	34	3	1878	3	RHPN2	19	33517490	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19511296	33517490	25611493	129	129											
SBSN	374897	broad.mit.edu	37	chr19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-													ccatccagggccttgcccacCtctctctctgcattgctcag							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		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)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	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.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	871						7	871	---	---	---	---	-	36019047	CT	-	36019046	7	5	1	1	0	1	0	1	0	0	0	0	13914	680	24	0	1650	0	SBSN	19	36019046	Frame_Shift_Del	DEL	CT	TCGA-2J-AAB1-01A-11D-A40W-08	2501556	36019046	23109937	130	130											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97	84	88					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		6	589	0	0	0	1	0	6	589					A	39421234	G	A	39421234	3	1	1	1	0	0	0	0	1	0	0	0	13895	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3402188	39421234	19707749	131	131											
ZNF227	7770	broad.mit.edu	37	chr19	44739673	44739673	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatgctttagtcaaAgttcaaattttcagtgccat	8	6	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44739673A>T	ENST00000313040.7	+	6	1295	c.1090A>T	c.(1090-1092)Agt>Tgt	p.S364C	ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C|ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	364					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTTAGTCAAAGTTCAAATTT	0.423																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1090-1092)Agt>Tgt		zinc finger protein 227							74	81	79					19																	44739673		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739673A>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1090A>T	19.37:g.44739673A>T	ENSP00000321049:p.Ser364Cys					ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C|ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C	p.S364C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1295	+		Prostate(69;0.0435)	364					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1090A>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808701	0.50421	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.16743	2.32;3.13	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27027	0.0662	M	0.78285	2.405	0.18873	N	0.999988	B;B;D;B	0.64830	0.238;0.114;0.994;0.114	B;B;P;B	0.47402	0.016;0.023;0.546;0.023	T	0.21484	-1.0244	9	0.52906	T	0.07	.	8.7324	0.34507	0.8306:0.0:0.0:0.1694	.	285;343;316;364	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	C	364;321;313;343;65	ENSP00000321049:S364C;ENSP00000375823:S313C	ENSP00000321049:S364C	S	+	1	0	ZNF227	49431513	0.062000	0.20869	0.998000	0.56505	0.993000	0.82548	1.890000	0.39728	1.801000	0.52704	0.460000	0.39030	AGT		0.423	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		5	327	0	0	0	1	0	5	327					T	44739673	A	T	44739673	3	4	1	1	0	0	0	0	1	0	0	0	17834	72	3	5	1104	5	ZNF227	19	44739673	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	5318439	44739673	14389310	132	132											
ZNF114	163071	broad.mit.edu	37	chr19	48789674	48789674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaataactcaattcacgccAtgcagatgcagttgtatacc	7	10	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:48789674A>C	ENST00000595607.1	+	6	1287	c.793A>C	c.(793-795)Atg>Ctg	p.M265L	ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L|ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AATTCACGCCATGCAGATGCA	0.463																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(793-795)Atg>Ctg		zinc finger protein 114							93	85	88					19																	48789674		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789674A>C	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.793A>C	19.37:g.48789674A>C	ENSP00000469998:p.Met265Leu					ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L|ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L	p.M265L			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	1287	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	265					A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.793A>C	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610640	0.03690	.	.	ENSG00000178150	ENST00000315849	T	0.04502	3.61	2.01	0.895	0.19247	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48234	-0.9053	9	0.24483	T	0.36	.	4.187	0.10402	0.1438:0.0:0.6304:0.2258	.	265	Q8NC26	ZN114_HUMAN	L	265	ENSP00000318898:M265L	ENSP00000318898:M265L	M	+	1	0	ZNF114	53481486	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.407000	0.07178	0.016000	0.14998	-0.349000	0.07799	ATG		0.463	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		12	383	0	0	0	1	0	12	383					C	48789674	A	C	48789674	3	2	1	1	0	0	0	0	1	0	0	0	17769	217	8	4	803	4	ZNF114	19	48789674	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	4050001	48789674	10339309	133	133											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctccttggcgtttcaCctgacaggtgaggttggtgc	14	10	1	3	rs111981406	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6																			2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85	81	82					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met					SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	p.V215M	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		5	239	0	0	0	1	0	5	239					T	52149092	C	T	52149092	3	4	1	1	0	0	0	0	1	0	0	0	14359	507	18	2	567	2	SIGLEC14	19	52149092	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3359418	52149092	6979891	134	134											
RPL28	6158	broad.mit.edu	37	chr19	55899358	55899358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaagaatgctcgcgccaCgctcagcagcatcagacaca	8	15	2	2	rs150642428		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:55899358C>T	ENST00000344063.2	+	4	895	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M|RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C			P46779	RL28_HUMAN	ribosomal protein L28	89					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCTCGCGCCACGCTCAGCAGC	0.622																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(265-267)aCg>aTg		ribosomal protein L28							95	86	89					19																	55899358		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899358C>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.266C>T	19.37:g.55899358C>T	ENSP00000342787:p.Thr89Met					RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M	p.T89M			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	895	+	Breast(117;0.191)	Renal(1328;0.245)	89					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.266C>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054549	0.55218	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.44881	0.91;0.91	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.53617	1.68	0.58432	D	0.999996	D;D;P	0.65815	0.978;0.995;0.607	P;P;B	0.56042	0.543;0.79;0.427	T	0.54925	-0.8220	10	0.52906	T	0.07	.	13.1887	0.59697	0.0:1.0:0.0:0.0	.	89;89;89	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	M	89	ENSP00000342787:T89M;ENSP00000401450:T89M	ENSP00000342787:T89M	T	+	2	0	RPL28	60591170	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.107000	0.77047	1.864000	0.54056	0.462000	0.41574	ACG		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		17	379	0	0	0	1	0	17	379					T	55899358	C	T	55899358	3	4	1	1	0	0	0	0	1	0	0	0	13627	536	19	1	344	1	RPL28	19	55899358	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3750266	55899358	3229625	135	135											
DHX35	60625	broad.mit.edu	37	chr20	37653909	37653909	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgtcaggaacatttcCtgaattacaagggtcttgtc	10	7	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:37653909C>G	ENST00000252011.3	+	18	1741	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	DHX35_ENST00000373323.4_Missense_Mutation_p.L539V|DHX35_ENST00000373325.2_Missense_Mutation_p.L570V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	570					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGAACATTTCCTGAATTACAA	0.418																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1708-1710)Ctg>Gtg		DEAH (Asp-Glu-Ala-His) box polypeptide 35							207	208	208					20																	37653909		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37653909C>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1708C>G	20.37:g.37653909C>G	ENSP00000252011:p.Leu570Val					DHX35_ENST00000373325.2_Missense_Mutation_p.L570V|DHX35_ENST00000373323.4_Missense_Mutation_p.L539V	p.L570V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			18	1741	+		Myeloproliferative disorder(115;0.00878)	570					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1708C>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894638	0.52121	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.41758	3.7;3.65;3.59;0.99	5.41	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.45228	1.405	0.80722	D	1	P;B	0.40534	0.72;0.429	P;B	0.49752	0.621;0.088	T	0.19778	-1.0295	10	0.25751	T	0.34	.	9.8859	0.41262	0.0:0.834:0.0:0.166	.	539;570	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	V	570;570;539;50;34	ENSP00000362422:L570V;ENSP00000252011:L570V;ENSP00000362420:L539V;ENSP00000397997:L34V	ENSP00000252011:L570V	L	+	1	2	DHX35	37087323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.399000	0.44495	1.269000	0.44280	0.655000	0.94253	CTG		0.418	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		183	781	0	0	0	1	0	183	781					G	37653909	C	G	37653909	3	3	1	1	0	0	0	0	1	0	0	0	4524	680	24	5	1778	5	DHX35	20	37653909	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		37653909	25371611	136	136											
CHD6	84181	broad.mit.edu	37	chr20	40085993	40085993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtcaaacatctcgcgctCgtaggaatttcgagtgatga	10	9	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:40085993C>T	ENST00000373233.3	-	18	2917	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCTCGCGCTCGTAGGAATTT	0.542																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2740-2742)Gag>Aag		chromodomain helicase DNA binding protein 6							138	107	117					20																	40085993		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40085993C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2740G>A	20.37:g.40085993C>T	ENSP00000362330:p.Glu914Lys					CHD6_ENST00000309279.7_Intron	p.E914K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			18	2917	-		Myeloproliferative disorder(115;0.00425)	914			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.2740G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210518	0.95069	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.56097	D	0.000021	D	0.95449	0.8522	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96602	0.9445	10	0.87932	D	0	-28.0288	19.5951	0.95533	0.0:1.0:0.0:0.0	.	914	Q8TD26	CHD6_HUMAN	K	914	ENSP00000362330:E914K	ENSP00000362330:E914K	E	-	1	0	CHD6	39519407	1.000000	0.71417	0.998000	0.56505	0.479000	0.33129	7.729000	0.84864	2.705000	0.92388	0.591000	0.81541	GAG		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			57	230	0	0	0	1	0	57	230					T	40085993	C	T	40085993	3	4	1	1	0	0	0	0	1	0	0	0	3338	893	31	1	5487	1	CHD6	20	40085993	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2432084	40085993	22939527	137	137											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80	78	79					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	308	0	0	0	1	0	5	308					A	57484421	G	A	57484421	3	1	1	1	0	0	0	0	1	0	0	0	6539	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17398428	57484421	5541099	138	138											
DIDO1	11083	broad.mit.edu	37	chr20	61525110	61525110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgggcaccatcacagaagtCaagacaggcttcggcacatc	10	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:61525110C>T	ENST00000266070.4	-	12	3334	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L|DIDO1_ENST00000395335.2_Silent_p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1003					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCACAGAAGTCAAGACAGGCT	0.567																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3007-3009)ttG>ttA		death inducer-obliterator 1							127	105	112					20																	61525110		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525110C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3009G>A	20.37:g.61525110C>T						DIDO1_ENST00000395335.2_Silent_p.L1003L|DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L	p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3334	-	Breast(26;5.68e-08)		1003					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3009G>A	CCDS33506.1																																																																																				0.567	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	480	0	0	0	1	0	6	480					T	61525110	C	T	61525110	2	4	1	1	0	0	0	0	0	0	0	1	4538	825	29	2		2	DIDO1	20	61525110	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	4040689	61525110	1500410	139	139											
CHAF1B	8208	broad.mit.edu	37	chr21	37783861	37783861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccttcccttttggttaCgtgtctaatatacattacca	5	11	1	0	rs370336150		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:37783861C>T	ENST00000314103.5	+	11	1171	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	340					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTTTGGTTACGTGTCTAATA	0.522																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1018-1020)taC>taT		chromatin assembly factor 1, subunit B (p60)		C		1,4405	2.1+/-5.4	0,1,2202	228	199	209		1020	-3.6	0.5	21		209	0,8600		0,0,4300	no	coding-synonymous	CHAF1B	NM_005441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		340/560	37783861	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37783861C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1020C>T	21.37:g.37783861C>T							p.Y340Y	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			11	1171	+			340					Q99548	Silent	SNP	ENST00000314103.5	37	c.1020C>T	CCDS13644.1																																																																																				0.522	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		6	761	0	0	0	1	0	6	761					T	37783861	C	T	37783861	2	4	1	1	0	0	0	0	0	0	0	1	3321	547	19	1		1	CHAF1B	21	37783861	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		37783861	10346034	140	140											
BRWD1	54014	broad.mit.edu	37	chr21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctttacaattttgccGttgcttgaacctctggcttc	7	12	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:40578077G>A	ENST00000333229.2	-	37	4648	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441W	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)Cgg>Tgg		bromodomain and WD repeat domain containing 1							127	133	131					21																	40578077		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578077G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4321C>T	21.37:g.40578077G>A	ENSP00000330753:p.Arg1441Trp					BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441W	p.R1441W	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4399	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4321C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.589350|2.589350	0.46214|0.46214	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.59638|.	0.25;0.28;0.34|.	4.87|4.87	-4.09|-4.09	0.03951|0.03951	.|.	0.173450|.	0.35970|.	N|.	0.002879|.	T|T	0.47432|0.47432	0.1445|0.1445	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	0.999995|0.999995	D;D;B|.	0.71674|.	0.997;0.998;0.009|.	P;P;B|.	0.56474|.	0.799;0.785;0.003|.	T|T	0.52366|0.52366	-0.8585|-0.8585	10|5	0.87932|.	D|.	0|.	-0.1605|-0.1605	11.4109|11.4109	0.49925|0.49925	0.0715:0.0:0.3738:0.5547|0.0715:0.0:0.3738:0.5547	.|.	1441;1441;1441|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	W|M	1441;1441;1441;397|378	ENSP00000330753:R1441W;ENSP00000344333:R1441W;ENSP00000370178:R1441W|.	ENSP00000330753:R1441W|.	R|T	-|-	1|2	2|0	BRWD1|BRWD1	39499947|39499947	0.044000|0.044000	0.20184|0.20184	0.347000|0.347000	0.25668|0.25668	0.557000|0.557000	0.35523|0.35523	0.106000|0.106000	0.15354|0.15354	-0.524000|-0.524000	0.06400|0.06400	-0.215000|-0.215000	0.12644|0.12644	CGG|ACG		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		141	659	0	0	0	1	0	141	659					A	40578077	G	A	40578077	3	1	1	1	0	0	0	0	1	0	0	0	1529	1144	40	1	2904	1	BRWD1	21	40578077	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2794216	40578077	7551818	141	141											
DSCAM	1826	broad.mit.edu	37	chr21	41559185	41559185	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcgggagggtctgggggCtctgtgccatcaacagaaag	15	8	3	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:41559185C>A	ENST00000400454.1	-	14	3129	c.2652G>T	c.(2650-2652)gaG>gaT	p.E884D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	884					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCTGGGGGCTCTGTGCCAT	0.483																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.e14-1		Down syndrome cell adhesion molecule							94	94	94					21																	41559185		1945	4152	6097	SO:0001630	splice_region_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41559185C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2651-1G>T	21.37:g.41559185C>A							p.E884_splice	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			14	3129	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	884					O60468	Splice_Site	SNP	ENST00000400454.1	37	c.2650_splice	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378979	0.42207	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.39229	1.09;1.09	5.18	2.29	0.28610	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.25332	0.735	0.40427	D	0.979904	B	0.17465	0.022	B	0.12156	0.007	T	0.12993	-1.0526	10	0.62326	D	0.03	.	10.457	0.44557	0.0:0.6553:0.0:0.3447	.	884	O60469	DSCAM_HUMAN	D	884;636	ENSP00000383303:E884D;ENSP00000385342:E636D	ENSP00000383303:E884D	E	-	3	2	DSCAM	40481055	0.293000	0.24371	1.000000	0.80357	0.973000	0.67179	-0.338000	0.07842	0.659000	0.30945	0.561000	0.74099	GAG		0.483	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	Missense_Mutation	4	129	1	0	3.59834e-05	1	3.69875e-05	4	129					A	41559185	C	A	41559185	5	1	1	1	0	0	0	0	0	0	1	0	4784	811	28	3	3466	3	DSCAM	21	41559185	Splice_Site	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	981108	41559185	6570710	142	142											
SEZ6L	23544	broad.mit.edu	37	chr22	26736580	26736580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttggaaagggccagggaTttatcatgaactacataggt	11	6	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:26736580T>C	ENST00000248933.6	+	10	2289	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.F732L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	732	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGGCCAGGGATTTATCATGAA	0.458																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2194-2196)Ttt>Ctt		seizure related 6 homolog (mouse)-like							85	76	79					22																	26736580		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26736580T>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2194T>C	22.37:g.26736580T>C	ENSP00000248933:p.Phe732Leu					SEZ6L_ENST00000248933.6_Missense_Mutation_p.F732L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L	p.F732L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			10	2390	+			732			CUB 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2194T>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455009	0.63290	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.01	5.01	0.66863	CUB (4);	0.000000	0.56097	D	0.000031	T	0.73916	0.3648	M	0.91663	3.23	0.80722	D	1	B;B;B;B;B;B;B	0.22480	0.007;0.07;0.007;0.056;0.05;0.07;0.07	B;B;B;B;B;B;B	0.23574	0.022;0.046;0.024;0.027;0.047;0.046;0.046	T	0.75761	-0.3204	10	0.56958	D	0.05	.	14.0549	0.64761	0.0:0.0:0.0:1.0	.	732;732;505;732;732;732;732	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	732;732;732;732;732;505;505	ENSP00000384772:F732L;ENSP00000437037:F732L;ENSP00000354185:F732L;ENSP00000248933:F732L;ENSP00000342661:F732L;ENSP00000384838:F505L;ENSP00000384733:F505L	ENSP00000248933:F732L	F	+	1	0	SEZ6L	25066580	1.000000	0.71417	0.959000	0.39883	0.971000	0.66376	7.350000	0.79385	2.104000	0.64026	0.260000	0.18958	TTT		0.458	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			33	192	0	0	0	1	0	33	192					C	26736580	T	C	26736580	3	2	1	1	0	0	0	0	1	0	0	0	14193	1493	52	4	2232	4	SEZ6L	22	26736580	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08		26736580	24567986	143	143											
MICALL1	85377	broad.mit.edu	37	chr22	38327854	38327854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccatcacctgcagcgTccccagccacaaagaaggcc	10	16	1	1	rs553097612	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:38327854T>C	ENST00000215957.6	+	10	2056	c.1930T>C	c.(1930-1932)Tcc>Ccc	p.S644P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACCTGCAGCGTCCCCAGCCAC	0.582													T|||	1393	0.278155	0.2375	0.3141	5008	,	,		18779	0.3661		0.334	False		,,,				2504	0.1595					ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1930-1932)Tcc>Ccc		MICAL-like 1							87	88	88					22																	38327854		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38327854T>C	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1930T>C	22.37:g.38327854T>C	ENSP00000215957:p.Ser644Pro					MICALL1_ENST00000402631.1_3'UTR	p.S644P	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			10	2056	+	Melanoma(58;0.045)		644			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.1930T>C	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.17|18.17	3.564011|3.564011	0.65651|0.65651	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631|ENST00000454685	T;T|.	0.57907|.	0.37;1.85|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.209824|.	0.34603|.	N|.	0.003825|.	T|T	0.63022|0.63022	0.2476|0.2476	L|L	0.48362|0.48362	1.52|1.52	0.43234|0.43234	D|D	0.995137|0.995137	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|T	0.60378|0.60378	-0.7275|-0.7275	10|5	0.51188|.	T|.	0.08|.	.|.	15.6987|15.6987	0.77521|0.77521	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	644|.	Q8N3F8|.	MILK1_HUMAN|.	P|A	644;71|219	ENSP00000215957:S644P;ENSP00000384608:S71P|.	ENSP00000215957:S644P|.	S|V	+|+	1|2	0|0	MICALL1|MICALL1	36657800|36657800	0.993000|0.993000	0.37304|0.37304	0.933000|0.933000	0.37362|0.37362	0.661000|0.661000	0.39034|0.39034	2.312000|2.312000	0.43726|0.43726	2.115000|2.115000	0.64714|0.64714	0.482000|0.482000	0.46254|0.46254	TCC|GTC		0.582	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	459	0	0	0	1	0	8	459					C	38327854	T	C	38327854	3	2	1	1	0	0	0	0	1	0	0	0	9614	1667	58	4	1968	4	MICALL1	22	38327854	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	11591274	38327854	12976712	144	144											
RANGAP1	5905	broad.mit.edu	37	chr22	41650338	41650338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttagggtccagaatcttccGtgagggcgtggctgacttct	14	9	2	3	rs139571477	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:41650338G>A	ENST00000455915.2	-	10	2703	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	412					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAATCTTCCGTGAGGGCGTG	0.552													G|||	6	0.00119808	0.0015	0.0029	5008	,	,		17459	0.0		0.001	False		,,,				2504	0.001					ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1234-1236)Cgg>Tgg		Ran GTPase activating protein 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	304	213	244		1234	2.2	0.4	22	dbSNP_134	244	12,8588	9.1+/-34.3	0,12,4288	yes	missense	RANGAP1	NM_002883.2	101	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	probably-damaging	412/588	41650338	13,12993	2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650338G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1234C>T	22.37:g.41650338G>A	ENSP00000401470:p.Arg412Trp					RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W	p.R412W			P46060	RAGP1_HUMAN			10	2703	-			412					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1234C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101483	0.37048	2.27E-4	0.001395	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.39	2.17	0.27698	Ran-GTPase activating protein 1, C-terminal (1);	1.014230	0.07853	N	0.965026	T	0.45975	0.1369	L	0.36672	1.1	0.19775	N	0.999959	D;D	0.76494	0.999;0.995	P;P	0.54372	0.711;0.75	T	0.34054	-0.9844	10	0.72032	D	0.01	-21.7601	8.6119	0.33808	0.0:0.0:0.4106:0.5894	.	357;412	F8W7I9;P46060	.;RAGP1_HUMAN	W	412;412;412;412;357	ENSP00000385866:R412W;ENSP00000348577:R412W;ENSP00000401470:R412W;ENSP00000385354:R357W	ENSP00000348577:R412W	R	-	1	2	RANGAP1	39980284	0.792000	0.28813	0.401000	0.26359	0.093000	0.18481	0.893000	0.28336	0.297000	0.22615	-0.521000	0.04368	CGG		0.552	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		63	252	0	0	0	1	0	63	252					A	41650338	G	A	41650338	3	1	1	1	0	0	0	0	1	0	0	0	13083	1144	40	1	553	1	RANGAP1	22	41650338	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3322484	41650338	9654228	145	145											
MOV10L1	54456	broad.mit.edu	37	chr22	50538027	50538027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctggagagtgtgtgCgaaggtatgctcaggggtct	15	7	4	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:50538027C>T	ENST00000262794.5	+	3	521	c.438C>T	c.(436-438)tgC>tgT	p.C146C	MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	146					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGAGTGTGTGCGAAGGTATGC	0.512																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(436-438)tgC>tgT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							113	94	101					22																	50538027		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50538027C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.438C>T	22.37:g.50538027C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000475190.1_3'UTR	p.C146C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	3	521	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	146					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.438C>T	CCDS14084.1																																																																																				0.512	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	229	0	0	0	1	0	47	229					T	50538027	C	T	50538027	2	4	1	1	0	0	0	0	0	0	0	1	9760	776	27	1		1	MOV10L1	22	50538027	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	8887689	50538027	766539	146	146											
BMX	660	broad.mit.edu	37	chrX	15526493	15526493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatatggatacaaaatctaTtctagaagaacttcttctca	4	7	4	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:15526493T>C	ENST00000357607.2	+	2	205	c.17T>C	c.(16-18)aTt>aCt	p.I6T	BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000463891.1_Intron|BMX_ENST00000348343.6_Missense_Mutation_p.I6T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	6	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACAAAATCTATTCTAGAAGAA	0.294																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(16-18)aTt>aCt		BMX non-receptor tyrosine kinase							30	31	31					X																	15526493		2199	4278	6477	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526493T>C	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.17T>C	X.37:g.15526493T>C	ENSP00000350224:p.Ile6Thr					BMX_ENST00000463891.1_Intron|BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000348343.6_Missense_Mutation_p.I6T	p.I6T			P51813	BMX_HUMAN			2	205	+	Hepatocellular(33;0.183)		6			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.17T>C	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735041	0.69189	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.94232	-3.38;-3.38;-3.38	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.097450	0.44483	D	0.000449	D	0.95169	0.8434	M	0.79926	2.475	0.37061	D	0.89808	P	0.50819	0.939	P	0.53988	0.739	D	0.96917	0.9671	10	0.87932	D	0	.	11.1504	0.48455	0.0:0.0:0.0:1.0	.	6	P51813	BMX_HUMAN	T	6	ENSP00000350224:I6T;ENSP00000308774:I6T;ENSP00000340082:I6T	ENSP00000340082:I6T	I	+	2	0	BMX	15436414	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.182000	0.65059	1.904000	0.55121	0.486000	0.48141	ATT		0.294	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		6	236	0	0	0	1	0	6	236					C	15526493	T	C	15526493	3	2	1	1	0	0	0	0	1	0	0	0	1475	1493	52	4	19	4	BMX	23	15526493	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08		15526493	139744067	147	147											
OGT	8473	broad.mit.edu	37	chrX	70757810	70757810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattatcgacatgcattgcGtctcaaacctgatttcatcg	7	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.R107H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.R117H(1)|p.R107H(1)	breast(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(349-351)cGt>cAt		O-linked N-acetylglucosamine (GlcNAc) transferase							160	128	139					X																	70757810		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70757810G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.350G>A	X.37:g.70757810G>A	ENSP00000362824:p.Arg117His					OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	p.R117H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			3	567	+	Renal(35;0.156)		117					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.350G>A	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.1|20.1	3.937205|3.937205	0.73557|0.73557	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774|ENST00000455587	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.105470|.	0.64402|.	D|.	0.000011|.	T|T	0.73297|0.73297	0.3569|0.3569	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;D;B|.	0.71674|.	0.998;0.997;0.369|.	D;P;B|.	0.64042|.	0.921;0.832;0.045|.	T|T	0.73275|0.73275	-0.4034|-0.4034	10|5	0.46703|.	T|.	0.11|.	-19.0221|-19.0221	17.2684|17.2684	0.87093|0.87093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;107;117|.	B4DTL6;O15294-3;O15294|.	.;.;OGT1_HUMAN|.	H|I	117;107;100|77	ENSP00000362824:R117H;ENSP00000362805:R107H;ENSP00000399729:R100H|.	ENSP00000362805:R107H|.	R|V	+|+	2|1	0|0	OGT|OGT	70674535|70674535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.502000|9.502000	0.97981|0.97981	2.259000|2.259000	0.74868|0.74868	0.525000|0.525000	0.51046|0.51046	CGT|GTC		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		75	106	0	0	0	1	0	75	106					A	70757810	G	A	70757810	3	1	1	1	0	0	0	0	1	0	0	0	10889	1145	40	1	360	1	OGT	23	70757810	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	55231317	70757810	84512750	148	148											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		15	525						15	525	---	---	---	---	-	102004421	GAG	-	102004419	7	5	1	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-2J-AAB1-01A-11D-A40W-08	31246609	102004419	53266141	149	149											
CUL4B	8450	broad.mit.edu	37	chrX	119674244	119674244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctataagttcagctggtttAtttggtcttttgttaatgaa	8	5	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:119674244A>C	ENST00000404115.3	-	13	2072	c.1671T>G	c.(1669-1671)aaT>aaG	p.N557K	CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K|CUL4B_ENST00000371322.5_Missense_Mutation_p.N539K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	557					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGGTTTATTTGGTCTTT	0.308																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1615-1617)aaT>aaG		cullin 4B							144	131	135					X																	119674244		2202	4298	6500	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674244A>C	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1671T>G	X.37:g.119674244A>C	ENSP00000384109:p.Asn557Lys					CUL4B_ENST00000404115.3_Missense_Mutation_p.N557K|CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K	p.N539K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1678	-			557					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1617T>G	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707788	0.30322	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73363	-0.74;-0.74;-0.74	5.6	2.54	0.30619	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.83118	2.625	0.58432	D	0.999999	P;D;D	0.89917	0.535;1.0;1.0	B;D;D	0.83275	0.398;0.996;0.993	T	0.82067	-0.0641	9	.	.	.	-17.2501	7.9584	0.30057	0.5235:0.0:0.4765:0.0	.	361;557;539	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	K	539;544;557	ENSP00000360373:N539K;ENSP00000338919:N544K;ENSP00000384109:N557K	.	N	-	3	2	CUL4B	119558272	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	1.401000	0.34589	0.413000	0.25759	-0.509000	0.04479	AAT		0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		44	87	0	0	0	1	0	44	87					C	119674244	A	C	119674244	3	2	1	1	0	0	0	0	1	0	0	0	4069	446	16	4	1110	4	CUL4B	23	119674244	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	17669825	119674244	35596316	150	150											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	7	12	5	1	rs200282759	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110	112	112					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	230	0	0	0	1	0	6	230					C	12907458	T	C	12907458	3	2	2	1	0	0	0	0	1	0	0	0	7293	1464	51	4	198	4	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08		12907458	236343163	1	151											
DNAJC6	9829	broad.mit.edu	37	chr1	65845149	65845149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctttttgctgtgtgtcGgaatatgtataactggctac	9	8	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:65845149G>A	ENST00000395325.3	+	5	594	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	146	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTGTGTGTCGGAATATGTAT	0.458																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(436-438)cGg>cAg		DnaJ (Hsp40) homolog, subfamily C, member 6							217	200	206					1																	65845149		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845149G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.437G>A	1.37:g.65845149G>A	ENSP00000378735:p.Arg146Gln					DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q	p.R146Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			5	594	+			146			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.437G>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005156	0.74932	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98649	-5.05;-5.05;-5.05	5.41	3.42	0.39159	Phosphatase tensin type (1);	0.055637	0.64402	D	0.000001	D	0.90937	0.7151	N	0.17474	0.49	0.31432	N	0.672981	P;P;D	0.54397	0.932;0.811;0.966	B;B;B	0.40444	0.124;0.058;0.329	D	0.89605	0.3837	10	0.44086	T	0.13	.	4.517	0.11939	0.3974:0.0:0.6026:0.0	.	203;146;133	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Q	133;146;203	ENSP00000263441:R133Q;ENSP00000378735:R146Q;ENSP00000360108:R203Q	ENSP00000263441:R133Q	R	+	2	0	DNAJC6	65617737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.122000	0.77169	1.520000	0.48965	0.561000	0.74099	CGG		0.458	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			87	486	0	0	0	1	0	87	486					A	65845149	G	A	65845149	3	1	2	1	0	0	0	0	1	0	0	0	4669	1116	39	1	455	1	DNAJC6	1	65845149	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	52937691	65845149	183405472	2	152											
EVI5	7813	broad.mit.edu	37	chr1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-													ataaaatacttactttttcaTtttttttgaattgtatttga					rs200529227		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1222-1224)tgfs		ecotropic viral integration site 5							76	82	80					1																	93159366		2202	4297	6499	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93159366delT	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1222delA	1.37:g.93159366delT	ENSP00000359356:p.Met408fs					EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	9	1231	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	408			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.1222delA	CCDS30774.1																																																																																				0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		10	488						10	488	---	---	---	---	-	93159366	T	-	93159366	7	5	2	1	0	1	0	1	0	0	0	0	5307	1493	52	0	1250	0	EVI5	1	93159366	Frame_Shift_Del	DEL	T	TCGA-2J-AAB4-01A-12D-A40W-08	27314217	93159366	156091255	3	153											
NTNG1	22854	broad.mit.edu	37	chr1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgttaagaccagccGttggggaaatatttgtagat	12	5	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:107867468G>A	ENST00000370068.1	+	3	1657	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370067.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I			Q9Y2I2	NTNG1_HUMAN	netrin G1	271	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.V271I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACCAGCCGTTGGGGAAAT	0.458																																						ENST00000370067.1																			2	Substitution - Missense(2)	p.V271I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(811-813)Gtt>Att		netrin G1							54	56	56					1																	107867468		2203	4299	6502	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867468G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.811G>A	1.37:g.107867468G>A	ENSP00000359085:p.Val271Ile					NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370068.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I	p.V271I			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1438	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	271			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.811G>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630818	0.28978	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.94	3.92	0.45320	Laminin, N-terminal (3);	0.336633	0.24492	N	0.038046	T	0.29850	0.0746	N	0.04508	-0.205	0.33178	D	0.549223	B;B;B;B;B	0.25772	0.001;0.134;0.007;0.021;0.076	B;B;B;B;B	0.28709	0.007;0.093;0.019;0.024;0.046	T	0.05435	-1.0885	10	0.40728	T	0.16	.	4.7071	0.12855	0.6449:0.0:0.3551:0.0	.	271;271;271;271;271	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	271;271;271;271;271;271;271;271;32;32;271;271;271;271;271;271	ENSP00000359090:V271I;ENSP00000359088:V271I;ENSP00000440561:V271I;ENSP00000359078:V271I;ENSP00000359089:V271I;ENSP00000359087:V271I;ENSP00000359091:V271I;ENSP00000359085:V271I;ENSP00000359084:V271I;ENSP00000359083:V271I;ENSP00000359082:V271I	ENSP00000294649:V271I	V	+	1	0	NTNG1	107668991	1.000000	0.71417	0.787000	0.31911	0.994000	0.84299	7.637000	0.83313	0.752000	0.32923	0.655000	0.94253	GTT		0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		42	339	0	0	0	1	0	42	339					A	107867468	G	A	107867468	3	1	2	1	0	0	0	0	1	0	0	0	10746	1145	40	1	817	1	NTNG1	1	107867468	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	14708102	107867468	141383153	4	154											
CELSR2	1952	broad.mit.edu	37	chr1	109807559	109807559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagtctgtgtgtacccGcaagcccagtgccccccatg	10	17	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:109807559G>A	ENST00000271332.3	+	12	5595	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1845	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		GTGTGTACCCGCAAGCCCAGT	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(5533-5535)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							157	142	147					1																	109807559		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.chr1:109807559G>A	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.5534G>A	1.37:g.109807559G>A	ENSP00000271332:p.Arg1845His						p.R1845H	NM_001408.2	NP_001399.1	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)	12	5595	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1845			EGF-like 6; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5534G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006429	0.35415	.	.	ENSG00000143126	ENST00000271332	D	0.91792	-2.91	5.12	4.2	0.49525	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.73946	0.3652	N	0.16743	0.435	0.47407	D	0.999418	P	0.37441	0.595	B	0.31751	0.135	T	0.74662	-0.3590	9	0.25106	T	0.35	.	11.5525	0.50729	0.1485:0.0:0.8515:0.0	.	1845	Q9HCU4	CELR2_HUMAN	H	1845	ENSP00000271332:R1845H	ENSP00000271332:R1845H	R	+	2	0	CELSR2	109609082	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	4.408000	0.59761	1.392000	0.46585	0.462000	0.41574	CGC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	586	0	0	0	1	0	5	586					A	109807559	G	A	109807559	3	1	2	1	0	0	0	0	1	0	0	0	3231	1087	38	1	5580	1	CELSR2	1	109807559	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1940091	109807559	139443062	5	155											
TCHH	7062	broad.mit.edu	37	chr1	152083468	152083469	+	Frame_Shift_Ins	INS	-	-	G													ccattgcagctcactctcccINSggcgccgcctcttttcctcc					rs368293517		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:152083468_152083469insG	ENST00000368804.1	-	2	2223_2224	c.2224_2225insC	c.(2224-2226)cggfs	p.R742fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	742					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			CTCACTCTCCCGGCGCCGCCTC	0.653																																						ENST00000368804.1																			0				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						c.(2224-2226)ggafs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083468_152083469insG	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.2225dupC	1.37:g.152083470_152083470dupG	ENSP00000357794:p.Arg742fs						p.G742fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2223_2224	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		742					Q5VUI3	Frame_Shift_Ins	INS	ENST00000368804.1	37	c.2224_2225insC	CCDS41396.1																																																																																				0.653	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	1068						7	1068	---	---	---	---	G	152083469	-	G	152083468	7	5	2	1	0	1	1	0	0	0	0	0	15752	652	23	0	3610	0	TCHH	1	152083468	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	42275909	152083468	97167153	6	156											
UBE2Q1	55585	broad.mit.edu	37	chr1	154523416	154523416	+	Frame_Shift_Del	DEL	T	T	-													tcctggctccagcctcaccgTttttttcgtggatctgcacc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:154523416delT	ENST00000292211.4	-	12	1314	c.1235delA	c.(1234-1236)aacfs	p.N412fs	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCACCGTTTTTTTCGTG	0.522																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)acfs		ubiquitin-conjugating enzyme E2Q family member 1							214	203	207					1																	154523416		2203	4300	6503	SO:0001589	frameshift_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523416delT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1235delA	1.37:g.154523416delT	ENSP00000292211:p.Asn412fs						p.N412fs	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Frame_Shift_Del	DEL	ENST00000292211.4	37	c.1235delA	CCDS1069.1																																																																																				0.522	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		7	1208						7	1208	---	---	---	---	-	154523416	T	-	154523416	7	5	2	1	0	1	0	1	0	0	0	0	16923	1725	60	0	41	0	UBE2Q1	1	154523416	Frame_Shift_Del	DEL	T	TCGA-2J-AAB4-01A-12D-A40W-08	2439948	154523416	94727205	7	157											
CD1B	910	broad.mit.edu	37	chr1	158300606	158300606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatctggaaatcaccgGcaaagtcttgtacttctcga	7	10	5	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:158300606G>A	ENST00000368168.3	-	2	415	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	103					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAAATCACCGGCAAAGTCTTG	0.433																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(307-309)gCc>gTc		CD1b molecule							203	208	206					1																	158300606		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300606G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.308C>T	1.37:g.158300606G>A	ENSP00000357150:p.Ala103Val						p.A103V	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	415	-	all_hematologic(112;0.0378)		103					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.308C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685781	0.14973	.	.	ENSG00000158485	ENST00000368168	T	0.06371	3.31	4.28	-3.93	0.04143	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.257440	0.05775	N	0.607617	T	0.00845	0.0028	N	0.11023	0.085	0.09310	N	1	B;B	0.32396	0.369;0.008	B;B	0.24541	0.054;0.012	T	0.44907	-0.9297	10	0.13108	T	0.6	-2.4627	10.7361	0.46126	0.7119:0.0:0.2881:0.0	.	103;103	B4E0D2;P29016	.;CD1B_HUMAN	V	103	ENSP00000357150:A103V	ENSP00000357150:A103V	A	-	2	0	CD1B	156567230	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.975000	0.03790	-0.705000	0.05035	0.655000	0.94253	GCC		0.433	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		7	1195	0	0	0	1	0	7	1195					A	158300606	G	A	158300606	3	1	2	1	0	0	0	0	1	0	0	0	2984	1203	42	2	713	2	CD1B	1	158300606	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	3777190	158300606	90950015	8	158											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	11	10	2	1	rs201111955		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(640-642)ggC>ggT		intelectin 1 (galactofuranose binding)							181	181	181					1																	160850421		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850421G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.642C>T	1.37:g.160850421G>A						ITLN1_ENST00000487531.1_5'UTR	p.G214G	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	757	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		214			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.642C>T	CCDS1211.1																																																																																				0.443	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		7	785	0	0	0	1	0	7	785					A	160850421	G	A	160850421	2	1	2	1	0	0	0	0	0	0	0	1	7940	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	2549815	160850421	88400200	9	159											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR	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	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		9	839						9	839	---	---	---	---	-	212115193	TGC	-	212115191	7	5	2	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-2J-AAB4-01A-12D-A40W-08	51264770	212115191	37135430	10	160											
USP34	9736	broad.mit.edu	37	chr2	61448662	61448662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatcctctgcagaatataaGatgcaaagggaggcattcct	9	8	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:61448662G>A	ENST00000398571.2	-	66	7950	c.7874C>T	c.(7873-7875)tCt>tTt	p.S2625F	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2625					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)			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)			CAGAATATAAGATGCAAAGGG	0.383																																						ENST00000398571.2																			0				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						c.(7873-7875)tCt>tTt		ubiquitin specific peptidase 34							81	77	78					2																	61448662		1869	4105	5974	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.chr2:61448662G>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.7874C>T	2.37:g.61448662G>A	ENSP00000381577:p.Ser2625Phe					USP34_ENST00000472689.1_5'UTR	p.S2625F	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		66	7950	-			2625					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7874C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619780	0.87460	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.36699	1.24	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.36672	1.1	0.80722	D	1	D	0.56968	0.978	P	0.54664	0.758	T	0.04811	-1.0925	10	0.09590	T	0.72	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2625	Q70CQ2	UBP34_HUMAN	F	2473;2473;2625	ENSP00000381577:S2625F	ENSP00000263989:S2473F	S	-	2	0	USP34	61302166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.701000	0.98710	2.885000	0.99019	0.655000	0.94253	TCT		0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	149	0	0	0	1	0	25	149					A	61448662	G	A	61448662	3	1	2	1	0	0	0	0	1	0	0	0	17119	942	33	2	2826	2	USP34	2	61448662	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		61448662	181750711	11	161											
CRYGD	1421	broad.mit.edu	37	chr2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgctgtccacgcgcGccgagttgcagcggctcaag	14	15	1	0	rs200234608		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(106-108)gCg>gTg		crystallin, gamma D							11	13	12					2																	208988981		2179	4274	6453	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208988981G>A		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.107C>T	2.37:g.208988981G>A	ENSP00000264376:p.Ala36Val						p.A36V	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	134	-			36			Beta/gamma crystallin 'Greek key' 1.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.107C>T	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000118231	ENST00000264376	T	0.72051	-0.62	4.35	3.19	0.36642	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.184420	0.36703	N	0.002444	T	0.29389	0.0732	N	0.00166	-1.94	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.32370	T	0.25	.	8.1681	0.31239	0.9021:0.0:0.0979:0.0	.	36	P07320	CRGD_HUMAN	V	36	ENSP00000264376:A36V	ENSP00000264376:A36V	A	-	2	0	CRYGD	208697226	0.280000	0.24249	0.067000	0.19924	0.966000	0.64601	2.073000	0.41519	0.695000	0.31675	-0.573000	0.04149	GCG		0.652	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		4	75	0	0	0	1	0	4	75					A	208988981	G	A	208988981	3	1	2	1	0	0	0	0	1	0	0	0	3926	1087	38	1	425	1	CRYGD	2	208988981	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	147540319	208988981	34210392	12	162											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000273077.4_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000248451.3_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		7	1632						7	1632	---	---	---	---	-	219134766	G	-	219134766	7	5	2	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-2J-AAB4-01A-12D-A40W-08	10145785	219134766	24064607	13	163											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	294						7	294	---	---	---	---	-	227660810	GCT	-	227660808	7	5	2	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-2J-AAB4-01A-12D-A40W-08	8526042	227660808	15538565	14	164											
DNER	92737	broad.mit.edu	37	chr2	230312173	230312173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggtaaagtgtacccCgtccacatagcaggtgccgt	12	11	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:230312173C>T	ENST00000341772.4	-	8	1479	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	449	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGTGTACCCCGTCCACATAG	0.572																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1345-1347)Ggg>Agg		delta/notch-like EGF repeat containing							55	52	53					2																	230312173		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230312173C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1345G>A	2.37:g.230312173C>T	ENSP00000345229:p.Gly449Arg						p.G449R	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	8	1479	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	449			EGF-like 6.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1345G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	5.804	0.332713	0.11013	.	.	ENSG00000187957	ENST00000341772	D	0.87412	-2.25	4.94	4.01	0.46588	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.209202	0.49916	D	0.000132	T	0.78660	0.4318	L	0.42529	1.33	0.46499	D	0.999072	B	0.25719	0.132	B	0.18871	0.023	T	0.70952	-0.4732	10	0.15066	T	0.55	.	9.0768	0.36527	0.0:0.6526:0.2599:0.0876	.	449	Q8NFT8	DNER_HUMAN	R	449	ENSP00000345229:G449R	ENSP00000345229:G449R	G	-	1	0	DNER	230020417	0.942000	0.31987	0.080000	0.20451	0.198000	0.23893	2.742000	0.47434	2.442000	0.82660	0.655000	0.94253	GGG		0.572	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		19	127	0	0	0	1	0	19	127					T	230312173	C	T	230312173	3	4	2	1	0	0	0	0	1	0	0	0	4683	652	23	1	892	1	DNER	2	230312173	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	2651365	230312173	12887200	15	165											
FBLN2	2199	broad.mit.edu	37	chr3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttccgcattggccccGcgccagccttcacgggggac	11	16	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																						ENST00000404922.3																			4	Substitution - Missense(4)	p.A1156T(2)|p.A575T(2)	large_intestine(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3466-3468)Gcg>Acg		fibulin 2							43	48	46					3																	13679189		2154	4245	6399	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679189G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr					FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T	p.A1156T	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3585	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3466G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		6	143	0	0	0	1	0	6	143					A	13679189	G	A	13679189	3	1	2	1	0	0	0	0	1	0	0	0	5724	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		13679189	184343241	16	166											
WDR48	57599	broad.mit.edu	37	chr3	39136218	39136218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctcaccctccattaccGtcagaagtccacgtgaaggc	8	15	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:39136218G>A	ENST00000302313.5	+	19	2046	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000418020.1_Missense_Mutation_p.R117H|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCCATTACCGTCAGAAGTCC	0.473																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2017-2019)cGt>cAt		WD repeat domain 48							142	136	138					3																	39136218		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39136218G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2018G>A	3.37:g.39136218G>A	ENSP00000307491:p.Arg673His					WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000418020.1_Missense_Mutation_p.R117H	p.R673H	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	19	2046	+			673					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.2018G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507838	0.96386	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92699	0.47;-3.09;0.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.961;0.961;0.975	D	0.96242	0.9176	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:0.0:1.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	H	673;398;591;117	ENSP00000307491:R673H;ENSP00000445187:R398H;ENSP00000379557:R591H	ENSP00000307491:R673H	R	+	2	0	WDR48	39111222	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.799000	0.99117	2.775000	0.95449	0.655000	0.94253	CGT		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		72	370	0	0	0	1	0	72	370					A	39136218	G	A	39136218	3	1	2	1	0	0	0	0	1	0	0	0	17355	1145	40	1	2092	1	WDR48	3	39136218	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	25457029	39136218	158886212	17	167											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	15	13	2	2	rs200900272		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	96	0	0	0	1	0	4	96					A	49723596	G	A	49723596	1	1	2	0	1	0	0	0	0	0	0	0	9931	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	10587378	49723596	148298834	18	168											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526867	64526867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggcagtcatcgcgccGgctcccgttatagggacatt	11	12	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:64526867G>A	ENST00000498707.1	-	36	5767	c.5425C>T	c.(5425-5427)Cgg>Tgg	p.R1809W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1809	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCATCGCGCCGGCTCCCGTTA	0.473																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5425-5427)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							75	78	77					3																	64526867		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526867G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5425C>T	3.37:g.64526867G>A	ENSP00000418735:p.Arg1809Trp					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	p.R1809W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5767	-		Lung NSC(201;0.00682)	1809			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5425C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156860	0.57259	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.19394	2.15;2.15	5.73	3.76	0.43208	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57015	-0.7883	10	0.87932	D	0	.	13.0992	0.59210	0.0:0.0:0.6673:0.3327	.	1781;1809	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	W	1781;1809	ENSP00000295903:R1781W;ENSP00000418735:R1809W	ENSP00000295903:R1781W	R	-	1	2	ADAMTS9	64501907	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	2.444000	0.44890	2.706000	0.92434	0.655000	0.94253	CGG		0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			83	380	0	0	0	1	0	83	380					A	64526867	G	A	64526867	3	1	2	1	0	0	0	0	1	0	0	0	273	1115	39	1	398	1	ADAMTS9	3	64526867	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	14803271	64526867	133495563	19	169											
TMF1	7110	broad.mit.edu	37	chr3	69082709	69082710	+	Frame_Shift_Del	DEL	AG	AG	-													aagcagttaccaagcctatcAgaaagattcttctctaattt							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:69082709_69082710delAG	ENST00000398559.2	-	10	2606_2607	c.2390_2391delCT	c.(2389-2391)tctfs	p.S797fs	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.S800fs|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	797					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGCCTATCAGAAAGATTCTT	0.366																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2398-2400)tfs		TATA element modulatory factor 1																																				SO:0001589	frameshift_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69082709_69082710delAG		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2390_2391delCT	3.37:g.69082709_69082710delAG	ENSP00000381567:p.Ser797fs					CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.S797fs|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA	p.S800fs	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	10	2645_2646	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	797					B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	c.2399_2400delCT	CCDS43105.1																																																																																				0.366	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		42	334						42	334	---	---	---	---	-	69082710	AG	-	69082709	7	5	2	1	0	1	0	1	0	0	0	0	16280	175	7	0	922	0	TMF1	3	69082709	Frame_Shift_Del	DEL	AG	TCGA-2J-AAB4-01A-12D-A40W-08	4555842	69082709	128939721	20	170											
PPP4R2	151987	broad.mit.edu	37	chr3	73047308	73047308	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccaagactggagaaacaAtgtgagttgaaaacatgcat	10	6	0	4	rs150423598		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:73047308A>G	ENST00000356692.5	+	2	368	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000394284.3_Splice_Site_p.I39V|PPP4R2_ENST00000495566.1_Splice_Site_p.M39V			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	39					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TGGAGAAACAATGTGAGTTGA	0.348																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.e2+1		protein phosphatase 4, regulatory subunit 2		A	VAL/MET	0,4406		0,0,2203	94	96	95		115	5.5	1	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PPP4R2	NM_174907.2	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	39/418	73047308	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73047308A>G	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.116+1A>G	3.37:g.73047308A>G						PPP4R2_ENST00000394284.3_Splice_Site_p.I39_splice|PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000495566.1_Splice_Site_p.M39_splice	p.M39_splice			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	2	368	+		Prostate(10;0.0187)|Lung SC(41;0.236)	39					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Splice_Site	SNP	ENST00000356692.5	37	c.116_splice	CCDS2917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.536|9.536	1.112046|1.112046	0.20795|0.20795	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163605|ENSG00000163605	ENST00000394284|ENST00000356692;ENST00000488810;ENST00000495566;ENST00000476505	T|T;T;T;T	0.40756|0.39406	1.02|1.08;1.08;1.08;1.08	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.122413	.|0.64402	.|D	.|0.000001	T|T	0.25606|0.25606	0.0623|0.0623	N|N	0.20328|0.20328	0.56|0.56	0.80722|0.80722	D|D	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.11179|0.11179	-1.0598|-1.0598	8|9	.|.	.|.	.|.	.|.	9.1019|9.1019	0.36673|0.36673	0.9171:0.0:0.0829:0.0|0.9171:0.0:0.0829:0.0	.|.	39|39	Q9NY27-2|Q9NY27	.|PP4R2_HUMAN	V|V	39|39;39;39;1	ENSP00000377825:I39V|ENSP00000349124:M39V;ENSP00000418750:M39V;ENSP00000418675:M39V;ENSP00000420098:M1V	.|.	I|M	+|+	1|1	0|0	PPP4R2|PPP4R2	73129998|73129998	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.326000|3.326000	0.52037|0.52037	2.077000|2.077000	0.62373|0.62373	0.533000|0.533000	0.62120|0.62120	ATT|ATG		0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907	Missense_Mutation	70	475	0	0	0	1	0	70	475					G	73047308	A	G	73047308	5	3	2	1	0	0	0	0	0	0	1	0	12451	115	4	4	121	4	PPP4R2	3	73047308	Splice_Site	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	3964599	73047308	124975122	21	171											
BBX	56987	broad.mit.edu	37	chr3	107497243	107497244	+	Frame_Shift_Ins	INS	-	-	A													aaagctggatgaagaatttgINSaaaaaaaattcaacagcctc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:107497243_107497244insA	ENST00000325805.8	+	13	2367_2368	c.2080_2081insA	c.(2080-2082)gaafs	p.E694fs	BBX_ENST00000415149.2_Frame_Shift_Ins_p.E694fs|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000402543.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.K358fs			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	694	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGAAGAATTTGAAAAAAAATTC	0.381																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(2080-2082)aaafs		bobby sox homolog (Drosophila)																																				SO:0001589	frameshift_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497243_107497244insA	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2088dupA	3.37:g.107497251_107497251dupA	ENSP00000319974:p.Glu694fs					BBX_ENST00000402543.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.K694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.LK357fs	p.K694fs	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2407_2408	+			694			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Frame_Shift_Ins	INS	ENST00000325805.8	37	c.2080_2081insA	CCDS46881.1																																																																																				0.381	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		7	515						7	515	---	---	---	---	A	107497244	-	A	107497243	7	5	2	1	0	1	1	0	0	0	0	0	1344	1291	45	0	2118	0	BBX	3	107497243	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	34449935	107497243	90525187	22	172											
KIAA1407	57577	broad.mit.edu	37	chr3	113737607	113737607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagtctctccaggcccGcaggaccttcagctgaatct	10	13	3	1	rs563222564		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:113737607G>A	ENST00000295878.3	-	8	1227	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R192W	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	361										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTCCAGGCCCGCAGGACCTTC	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16824	0.0		0.0	False		,,,				2504	0.0					ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1081-1083)Cgg>Tgg		KIAA1407							199	210	206					3																	113737607		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113737607G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1081C>T	3.37:g.113737607G>A	ENSP00000295878:p.Arg361Trp					KIAA1407_ENST00000545063.1_Missense_Mutation_p.R192W	p.R361W	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			8	1227	-			361					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1081C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778047	0.70107	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.56275	1.09;0.47;0.54	5.76	1.75	0.24633	.	0.134260	0.47455	D	0.000230	T	0.69015	0.3064	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	T	0.71490	-0.4577	10	0.87932	D	0	.	15.3441	0.74320	0.0:0.0:0.5062:0.4938	.	348;237;361	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	W	361;192;348	ENSP00000295878:R361W;ENSP00000446381:R192W;ENSP00000418099:R348W	ENSP00000295878:R361W	R	-	1	2	KIAA1407	115220297	0.966000	0.33281	0.978000	0.43139	0.988000	0.76386	1.269000	0.33074	0.031000	0.15407	-0.181000	0.13052	CGG		0.478	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		9	1331	0	0	0	1	0	9	1331					A	113737607	G	A	113737607	3	1	2	1	0	0	0	0	1	0	0	0	8259	1086	38	1	1769	1	KIAA1407	3	113737607	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	6240364	113737607	84284823	23	173											
ACAP2	23527	broad.mit.edu	37	chr3	195027287	195027287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagtagcaatactggtctGaacagccttaatccatgcct	8	11	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:195027287G>A	ENST00000326793.6	-	13	1299	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATACTGGTCTGAACAGCCTTA	0.383																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1069-1071)Cag>Tag		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							177	178	178					3																	195027287		2203	4300	6503	SO:0001587	stop_gained	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027287G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1069C>T	3.37:g.195027287G>A	ENSP00000324287:p.Gln357*						p.Q357*	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			13	1299	-			357			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	c.1069C>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.017412|6.017412	0.97205|0.97205	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051792|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74869	.|0.3773	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73167	.|-0.4068	.|3	0.72032|.	D|.	0.01|.	.|.	18.484|18.484	0.90821|0.90821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	357|231	.|.	ENSP00000324287:Q357X|.	Q|S	-|-	1|2	0|0	ACAP2|ACAP2	196508576|196508576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.593000|2.593000	0.87608|0.87608	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		95	647	0	0	0	1	0	95	647					A	195027287	G	A	195027287	4	1	2	1	0	0	0	0	0	1	0	0	119	1299	45	2	1311	2	ACAP2	3	195027287	Nonsense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	81289680	195027287	2995143	24	174											
CRIPAK	285464	broad.mit.edu	37	chr4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-													atgtggagtgcccgcctgctCacacgtgcccatgtggagtg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(166-171)ctcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388467_1388468delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.168_169delCA	4.37:g.1388469_1388470delCA	ENSP00000323978:p.Thr57fs						p.LT56fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3128_3129	+			56					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.168_169delCA	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	1945						7	1945	---	---	---	---	-	1388468	CA	-	1388467	7	5	2	1	0	1	0	1	0	0	0	0	3886	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-2J-AAB4-01A-12D-A40W-08		1388467	189765809	25	175											
EVC	2121	broad.mit.edu	37	chr4	5800472	5800472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctgctggtgcatgcaCggaatgcagccaccaagagc	14	12	0	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:5800472C>T	ENST00000264956.6	+	15	2441	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	EVC_ENST00000382674.2_Missense_Mutation_p.R753W|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	753					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGTGCATGCACGGAATGCAGC	0.637																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2257-2259)Cgg>Tgg		Ellis van Creveld syndrome							23	20	21					4																	5800472		2194	4285	6479	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5800472C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2257C>T	4.37:g.5800472C>T	ENSP00000264956:p.Arg753Trp					EVC_ENST00000264956.6_Missense_Mutation_p.R753W|EVC_ENST00000515113.1_3'UTR	p.R753W			P57679	EVC_HUMAN			15	2441	+		Myeloproliferative disorder(84;0.117)	753						Missense_Mutation	SNP	ENST00000264956.6	37	c.2257C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988209	0.35036	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.59906	0.23;0.23	5.08	4.21	0.49690	.	0.273076	0.32640	N	0.005837	T	0.72334	0.3447	M	0.66939	2.045	0.38150	D	0.938729	D	0.89917	1.0	D	0.87578	0.998	T	0.76602	-0.2899	10	0.62326	D	0.03	.	12.2208	0.54433	0.178:0.822:0.0:0.0	.	753	P57679	EVC_HUMAN	W	753	ENSP00000264956:R753W;ENSP00000372120:R753W	ENSP00000264956:R753W	R	+	1	2	EVC	5851373	0.143000	0.22626	0.024000	0.17045	0.027000	0.11550	0.701000	0.25616	1.068000	0.40764	0.561000	0.74099	CGG		0.637	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	74	0	0	0	1	0	8	74					T	5800472	C	T	5800472	3	4	2	1	0	0	0	0	1	0	0	0	5303	527	19	1	2315	1	EVC	4	5800472	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	4412005	5800472	185353804	26	176											
NKX6-1	4825	broad.mit.edu	37	chr4	85414481	85414483	+	In_Frame_Del	DEL	GCC	GCC	-													tcggacgcgtgcagtaggagGccgccgccgccgccgctgct					rs143458004	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:85414481_85414483delGCC	ENST00000295886.4	-	3	1284_1286	c.1063_1065delGGC	c.(1063-1065)ggcdel	p.G355del	NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	355	Involved in DNA-binding. {ECO:0000250}.|Poly-Gly.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGTAGGAGGCCGCCGCCGCCG	0.675																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(1063-1065)del		NK6 homeobox 1				24,3,4239		2,0,20,0,3,2108						3.5	1			46	32,2,8218		1,0,30,0,2,4093	no	codingComplex	NKX6-1	NM_006168.2		3,0,50,0,5,6201	A1A1,A1A2,A1R,A2A2,A2R,RR		0.412,0.6329,0.4873				56,5,12457				SO:0001651	inframe_deletion	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414481_85414483delGCC	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"Homeoboxes / ANTP class : NKL subclass"	7839	protein-coding gene	gene with protein product		602563	"NK homeobox (Drosophila), family 6, A", "NK6 transcription factor related, locus 1 (Drosophila)"	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1063_1065delGGC	4.37:g.85414490_85414492delGCC	ENSP00000295886:p.Gly355del					NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	p.G355del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1284_1286	-		Hepatocellular(203;0.114)	355			Involved in DNA-binding (By similarity).|Poly-Gly.			In_Frame_Del	DEL	ENST00000295886.4	37	c.1063_1065delGGC	CCDS3607.1																																																																																				0.675	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		7	221						7	221	---	---	---	---	-	85414483	GCC	-	85414481	7	5	2	1	0	1	0	1	0	0	0	0	10499	1190	42	0	42	0	NKX6-1	4	85414481	In_Frame_Del	DEL	GCC	TCGA-2J-AAB4-01A-12D-A40W-08	79614009	85414481	105739795	27	177											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	105	0	0	0	1	0	6	105					T	140811108	C	T	140811108	2	4	2	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	55396627	140811108	50343168	28	178											
PCDHA11	56138	broad.mit.edu	37	chr5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgatgcgggcgtgCcgcctctgagcagcaacgtg	17	14	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1624-1626)Ccg>Tcg									73	81	78					5																	140250312		2202	4298	6500	SO:0001583	missense	0							g.chr5:140250312C>T	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.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.P542S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1624	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1624C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		7	651	0	0	0	1	0	7	651					T	140250312	C	T	140250312	3	4	2	1	0	0	0	0	1	0	0	0	11563	739	26	2	1626	2	PCDHA11	5	140250312	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		140250312	40664948	29	179											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc	18	8	0	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2842-2844)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 2							112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552090C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn						p.D948N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2943	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	948			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2842G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	895	0	0	0	1	0	6	895					T	178552090	C	T	178552090	3	4	2	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	38301778	178552090	2363170	30	180											
GABBR1	2550	broad.mit.edu	37	chr6	29574715	29574715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgatctgccagatggCgagagtgaggacatccatgc	13	11	1	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:29574715C>T	ENST00000377034.4	-	18	2511	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	726					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.A726T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGCCAGATGGCGAGAGTGAGG	0.577																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.A726T(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2176-2178)Gcc>Acc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						95	83	87					6																	29574715		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574715C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2176G>A	6.37:g.29574715C>T	ENSP00000366233:p.Ala726Thr					GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T	p.A726T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			18	2511	-			726					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2176G>A	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.202|8.202	0.798448|0.798448	0.16397|0.16397	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034|ENST00000485026	D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26|.	4.27|4.27	4.27|4.27	0.50696|0.50696	GPCR, family 3, C-terminal (2);|.	0.374080|.	0.26109|.	N|.	0.026294|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.01624|0.01624	-0.795|-0.795	0.47308|0.47308	D|D	0.999387|0.999387	P;P;P|.	0.48503|.	0.911;0.91;0.91|.	B;B;B|.	0.38056|.	0.224;0.264;0.195|.	T|T	0.16100|0.16100	-1.0414|-1.0414	10|5	0.14656|.	T|.	0.56|.	-14.1093|-14.1093	14.5609|14.5609	0.68136|0.68136	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	664;726;609|.	Q9UBS5-3;Q9UBS5;Q5SUJ9|.	.;GABR1_HUMAN;.|.	T|H	609;664;609;726|106	ENSP00000348248:A609T;ENSP00000366215:A664T;ENSP00000366211:A609T;ENSP00000366233:A726T|.	ENSP00000348248:A609T|.	A|R	-|-	1|2	0|0	GABBR1|GABBR1	29682694|29682694	0.852000|0.852000	0.29690|0.29690	0.930000|0.930000	0.37139|0.37139	0.882000|0.882000	0.50991|0.50991	1.632000|1.632000	0.37102|0.37102	2.075000|2.075000	0.62263|0.62263	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.577	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			35	205	0	0	0	1	0	35	205					T	29574715	C	T	29574715	3	4	2	1	0	0	0	0	1	0	0	0	6182	768	27	1	733	1	GABBR1	6	29574715	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		29574715	141540352	31	181											
MDC1	9656	broad.mit.edu	37	chr6	30672363	30672363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggagctcaggggctgCgggcacaactgtttcagggg	18	9	2	0	rs372525319		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:30672363C>T	ENST00000376406.3	-	10	5244	c.4597G>A	c.(4597-4599)Gca>Aca	p.A1533T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1533	Interaction with the PRKDC complex.			A -> T (in Ref. 4; BAC54931/BAF31266). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGCTGCGGGCACAACT	0.592								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4597-4599)Gca>Aca	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							118	136	130					6																	30672363		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672363C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4597G>A	6.37:g.30672363C>T	ENSP00000365588:p.Ala1533Thr					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T	p.A1533T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5244	-			1533	A -> T (in Ref. 4; BAC54931/BAF31266).		Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4597G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	0.893	-0.724874	0.03158	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02421	4.3;4.3	4.06	2.84	0.33178	.	.	.	.	.	T	0.00144	0.0004	N	0.00095	-2.16	0.09310	N	1	B;B	0.30542	0.284;0.001	B;B	0.19666	0.026;0.001	T	0.28870	-1.0030	9	0.02654	T	1	.	4.2762	0.10809	0.0:0.107:0.2038:0.6892	.	1269;1533	Q14676-2;Q14676	.;MDC1_HUMAN	T	1533;1269;1246;1099	ENSP00000365588:A1533T;ENSP00000365587:A1269T	ENSP00000365587:A1269T	A	-	1	0	MDC1	30780342	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.039000	0.12124	0.342000	0.23796	-0.572000	0.04151	GCA		0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	676	0	0	0	1	0	6	676					T	30672363	C	T	30672363	3	4	2	1	0	0	0	0	1	0	0	0	9444	768	27	1	1696	1	MDC1	6	30672363	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	1097648	30672363	140442704	32	182											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		9	600						9	600	---	---	---	---	-	33411203	CAC	-	33411201	7	5	2	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-2J-AAB4-01A-12D-A40W-08	2738838	33411201	137703866	33	183											
ABCC10	89845	broad.mit.edu	37	chr6	43413586	43413586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcacgggagctgcggCgcctgggcagcctcaccctg	13	18	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:43413586C>T	ENST00000372530.4	+	15	3495	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	ABCC10_ENST00000244533.3_Missense_Mutation_p.R1066C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1094	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGAGCTGCGGCGCCTGGGCAG	0.652																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3196-3198)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							33	35	34					6																	43413586		2202	4299	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413586C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3280C>T	6.37:g.43413586C>T	ENSP00000361608:p.Arg1094Cys					ABCC10_ENST00000372530.4_Missense_Mutation_p.R1094C	p.R1066C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		13	3555	+	all_lung(25;0.00536)		1094			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3196C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299799	0.81136	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94376	-3.41;-3.41	4.81	3.92	0.45320	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	0.97321	0.9124	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98014	1.0367	10	0.87932	D	0	-11.614	12.2499	0.54591	0.3088:0.6912:0.0:0.0	.	1066;1094	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	1094;1066	ENSP00000361608:R1094C;ENSP00000244533:R1066C	ENSP00000244533:R1066C	R	+	1	0	ABCC10	43521564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.755000	0.68750	1.200000	0.43188	0.655000	0.94253	CGC		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		38	215	0	0	0	1	0	38	215					T	43413586	C	T	43413586	3	4	2	1	0	0	0	0	1	0	0	0	50	768	27	1	3246	1	ABCC10	6	43413586	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	10002385	43413586	127701481	34	184											
KLHL31	401265	broad.mit.edu	37	chr6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttggctggcatttccGtaagcttgctccatccattt	7	11	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:53519025G>A	ENST00000407079.1	-	1	1045	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M			Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(1045-1047)aCg>aTg		kelch-like family member 31							105	100	102					6																	53519025		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519025G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1046C>T	6.37:g.53519025G>A	ENSP00000384644:p.Thr349Met					KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	1186	-	Lung NSC(77;0.0158)		349					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1046C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453374	0.63290	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.095468	0.64402	D	0.000001	T	0.75852	0.3906	M	0.82716	2.605	0.58432	D	0.999994	D	0.76494	0.999	P	0.57283	0.817	T	0.80621	-0.1301	10	0.87932	D	0	.	15.4902	0.75600	0.0:0.1482:0.8518:0.0	.	349	Q9H511	KLH31_HUMAN	M	349	ENSP00000359942:T349M;ENSP00000384644:T349M	ENSP00000359942:T349M	T	-	2	0	KLHL31	53626984	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	ACG		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		5	357	0	0	0	1	0	5	357					A	53519025	G	A	53519025	3	1	2	1	0	0	0	0	1	0	0	0	8415	1145	40	1	866	1	KLHL31	6	53519025	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	10105439	53519025	117596042	35	185											
SYNE1	23345	broad.mit.edu	37	chr6	152539461	152539461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtcctgcccttgtagTatttcttcagcttccactat	7	12	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:152539461T>C	ENST00000367255.5	-	121	22723	c.22122A>G	c.(22120-22122)atA>atG	p.I7374M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7374					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCTTGTAGTATTTCTTCAG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22120-22122)atA>atG		spectrin repeat containing, nuclear envelope 1							221	230	227					6																	152539461		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539461T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22122A>G	6.37:g.152539461T>C	ENSP00000356224:p.Ile7374Met	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M	p.I7374M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22723	-		Ovarian(120;0.0955)	7374					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22122A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839662	0.32513	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.68	-11.4	0.00090	.	0.421595	0.22458	N	0.059793	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.48764	0.915;0.915;0.896;0.915	P;P;P;P	0.52514	0.701;0.701;0.575;0.701	T	0.26538	-1.0100	10	0.46703	T	0.11	.	1.5785	0.02629	0.2272:0.2006:0.369:0.2032	.	7374;7374;7303;7303	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	M	7374;20;7303;7374;7303;6986;1898;296	ENSP00000356224:I7374M;ENSP00000356226:I20M;ENSP00000396024:I7303M;ENSP00000265368:I7374M;ENSP00000390975:I7303M;ENSP00000341887:I6986M;ENSP00000349276:I1898M;ENSP00000356220:I296M	ENSP00000265368:I7374M	I	-	3	3	SYNE1	152581154	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.289000	0.02780	-2.729000	0.00385	-0.321000	0.08615	ATA		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		204	1177	0	0	0	1	0	204	1177					C	152539461	T	C	152539461	3	2	2	1	0	0	0	0	1	0	0	0	15497	1628	57	4	4448	4	SYNE1	6	152539461	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	99020436	152539461	18575606	36	186											
DNAH11	8701	broad.mit.edu	37	chr7	21727066	21727066	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttgatgagttcaacCgaatctctgtggaagttctg	11	8	3	2	rs372143147		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:21727066C>A	ENST00000409508.3	+	34	5876	c.5845C>A	c.(5845-5847)Cga>Aga	p.R1949R	DNAH11_ENST00000328843.6_Silent_p.R1956R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1956	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGTTCAACCGAATCTCTGT	0.443									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5866-5868)Cga>Aga		dynein, axonemal, heavy chain 11							78	82	81					7																	21727066		2197	4299	6496	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21727066C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5845C>A	7.37:g.21727066C>A						DNAH11_ENST00000409508.3_Silent_p.R1949R	p.R1956R			Q96DT5	DYH11_HUMAN			35	5897	+			1956			AAA 1 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5866C>A																																																																																					0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		21	113	1	0	2.98393e-07	1	3.09782e-07	21	113					A	21727066	C	A	21727066	2	1	2	1	0	0	0	0	0	0	0	1	4615	644	23	3		3	DNAH11	7	21727066	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		21727066	137411597	37	187											
HECW1	23072	broad.mit.edu	37	chr7	43580819	43580819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatcagtaccttcttgaCgctttcttcacgaggccctt	6	14	4	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:43580819C>T	ENST00000395891.2	+	25	4682	c.4077C>T	c.(4075-4077)gaC>gaT	p.D1359D	HECW1_ENST00000453890.1_Silent_p.D1325D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1359	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCTTCTTGACGCTTTCTTCA	0.522																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4075-4077)gaC>gaT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							168	162	164					7																	43580819		2005	4171	6176	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43580819C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4077C>T	7.37:g.43580819C>T						HECW1_ENST00000453890.1_Silent_p.D1325D	p.D1359D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			25	4682	+			1359			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4077C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672376	0.14776	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.64260	0.2582	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77778	-0.2460	4	.	.	.	.	19.7666	0.96346	0.0:0.5708:0.0:0.4292	.	.	.	.	M	83	.	.	T	+	2	0	HECW1	43547344	0.161000	0.22892	0.071000	0.20095	0.828000	0.46876	-0.564000	0.05936	-2.493000	0.00515	-0.965000	0.02619	ACG		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		48	424	0	0	0	1	0	48	424					T	43580819	C	T	43580819	2	4	2	1	0	0	0	0	0	0	0	1	7072	535	19	1		1	HECW1	7	43580819	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	21853753	43580819	115557844	38	188											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	21	6	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80	82	81					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		6	430	0	0	0	1	0	6	430					T	56142409	C	T	56142409	3	4	2	1	0	0	0	0	1	0	0	0	15438	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	12561590	56142409	102996254	39	189											
ZP3	7784	broad.mit.edu	37	chr7	76062797	76062797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttcagagaactggaaCgctgagaagaggtcccccac	11	11	2	3	rs371699247		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:76062797C>T	ENST00000394857.3	+	4	604	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ZP3_ENST00000416245.1_Silent_p.N6N|ZP3_ENST00000336517.4_Silent_p.N131N	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	182	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGAACTGGAACGCTGAGAAGA	0.597																																						ENST00000416245.1																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(16-18)aaC>aaT		zona pellucida glycoprotein 3 (sperm receptor)							69	67	67					7																	76062797		2203	4300	6503	SO:0001819	synonymous_variant	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76062797C>T	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.546C>T	7.37:g.76062797C>T						ZP3_ENST00000336517.4_Silent_p.N131N|ZP3_ENST00000394857.3_Silent_p.N182N	p.N6N			P21754	ZP3_HUMAN			3	1111	+			182					Q06633|Q29RW0	Silent	SNP	ENST00000394857.3	37	c.18C>T	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021105	0.07634	.	.	ENSG00000188372	ENST00000394860	.	.	.	5.4	-2.82	0.05787	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-12.4296	1.8203	0.03109	0.1105:0.2938:0.2176:0.3782	.	.	.	.	M	4	.	.	T	+	2	0	ZP3	75900733	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	-3.225000	0.00550	-0.242000	0.09667	-0.258000	0.10820	ACG		0.597	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			51	250	0	0	0	1	0	51	250					T	76062797	C	T	76062797	2	4	2	1	0	0	0	0	0	0	0	1	18270	535	19	1		1	ZP3	7	76062797	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	19920388	76062797	83075866	40	190											
ZAN	7455	broad.mit.edu	37	chr7	100350487	100350487	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatctccacggaaaaacCcaccatccccacggaaaaac	4	18	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:100350487C>T	ENST00000348028.3	+	0	2924				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_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)				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)			ACGGAAAAACCCACCATCCCC	0.502																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							341	393	377					7																	100350487		1864	4100	5964			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350487C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350487C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2907	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	13.49	2.252616	0.39797	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.25	1.22	0.21188	.	.	.	.	.	T	0.55353	0.1915	L	0.36672	1.1	0.22240	N	0.999267	B;P	0.37612	0.42;0.602	B;B	0.44108	0.312;0.441	T	0.50250	-0.8850	9	0.87932	D	0	.	7.3702	0.26798	0.1906:0.6243:0.1851:0.0	.	920;920	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	920	ENSP00000445943:P920L;ENSP00000445091:P920L;ENSP00000444427:P920L	ENSP00000423579:P920L	P	+	2	0	ZAN	100188423	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.137000	0.15995	0.129000	0.18514	0.655000	0.94253	CCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	659	0	0	0	1	0	7	659					T	100350487	C	T	100350487	1	4	2	0	1	0	0	0	0	0	0	0	17567	623	22	2		2	ZAN	7	100350487	RNA	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	24287690	100350487	58788176	41	191											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1113						8	1113	---	---	---	---	-	105440214	T	-	105440214	7	5	2	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-2J-AAB4-01A-12D-A40W-08		105440214	40923808	42	192											
DOCK8	81704	broad.mit.edu	37	chr9	372257	372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgccttggaaaaattgCcacccaactactccatgcat	6	13	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1876-1878)Cca>Tca		dedicator of cytokinesis 8							123	111	115					9																	372257		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:372257C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2080C>T	9.37:g.372257C>T	ENSP00000408464:p.Pro694Ser					DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR	p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	18	2192	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	694					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1876C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		5	429	0	0	0	1	0	5	429					T	372257	C	T	372257	3	4	2	1	0	0	0	0	1	0	0	0	4709	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		372257	140841174	43	193											
KCNV2	169522	broad.mit.edu	37	chr9	2718192	2718192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacagacgaatacttcttCgaccgcgacccggccgtctt	9	15	2	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(451-453)ttC>ttT		potassium channel, subfamily V, member 2							25	22	23					9																	2718192		2201	4298	6499	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718192C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.453C>T	9.37:g.2718192C>T							p.F151F	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	691	+			151					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.453C>T	CCDS6447.1																																																																																				0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		8	69	0	0	0	1	0	8	69					T	2718192	C	T	2718192	2	4	2	1	0	0	0	0	0	0	0	1	8125	883	31	1		1	KCNV2	9	2718192	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	2345935	2718192	138495239	44	194											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	12	13	2	0	rs544671340		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41	42	42					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A						RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		6	220	0	0	0	1	0	6	220					A	5304440	G	A	5304440	2	1	2	1	0	0	0	0	0	0	0	1	13442	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	2586248	5304440	135908991	45	195											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		8	1087						8	1087	---	---	---	---	-	94172779	T	-	94172779	7	5	2	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-2J-AAB4-01A-12D-A40W-08	88868339	94172779	47040652	46	196											
SEC61B	10952	broad.mit.edu	37	chr9	101992661	101992668	+	Frame_Shift_Del	DEL	TTCTGTAT	TTCTGTAT	-													atgagtcttctgttcatcgcTtctgtatttatgttgcacat					rs1804433		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:101992661_101992668delTTCTGTAT	ENST00000223641.4	+	4	309_316	c.246_253delTTCTGTAT	c.(244-255)gcttctgtatttfs	p.SVF83fs	SEC61B_ENST00000498603.1_Frame_Shift_Del_p.SVF29fs	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	83					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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TGTTCATCGCTTCTGTATTTATGTTGCA	0.38																																						ENST00000498603.1																			0				kidney(1)|large_intestine(1)	2						c.(82-93)gcttfs		Sec61 beta subunit																																				SO:0001589	frameshift_variant	10952				ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding	g.chr9:101992661_101992668delTTCTGTAT	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.246_253delTTCTGTAT	9.37:g.101992661_101992668delTTCTGTAT	ENSP00000223641:p.Ser83fs					SEC61B_ENST00000223641.4_Frame_Shift_Del_p.ASVF82fs	p.ASVF28fs			P60468	SC61B_HUMAN			4	351_358	+		Acute lymphoblastic leukemia(62;0.0559)	82					P38390|P38391|Q6IBC1	Frame_Shift_Del	DEL	ENST00000223641.4	37	c.84_91delTTCTGTAT	CCDS6741.1																																																																																				0.38	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		52	764						52	764	---	---	---	---	-	101992668	TTCTGTAT	-	101992661	7	5	2	1	0	1	0	1	0	0	0	0	14052	1596	56	0	260	0	SEC61B	9	101992661	Frame_Shift_Del	DEL	TTCTGTAT	TCGA-2J-AAB4-01A-12D-A40W-08	7819882	101992661	39220770	47	197											
ZNF483	158399	broad.mit.edu	37	chr9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaccttgttctgaaccGcaaggagaaaaccgccggag	11	11	2	3	rs201645923		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423																																						ENST00000309235.5																			1	Substitution - Missense(1)	p.R349H(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1045-1047)cGc>cAc		zinc finger protein 483							80	91	87					9																	114304261		2203	4299	6502	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304261G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His					ZNF483_ENST00000358151.4_Intron	p.R349H	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1204	+			349					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1046G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		9	687	0	0	0	1	0	9	687					A	114304261	G	A	114304261	3	1	2	1	0	0	0	0	1	0	0	0	17989	1087	38	1	1064	1	ZNF483	9	114304261	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	12311600	114304261	26909170	48	198											
DENND1A	57706	broad.mit.edu	37	chr9	126144428	126144428	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctgcagccccgggGccagggctgagcggctggag	18	14	0	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:126144428G>C	ENST00000373624.2	-	22	2514	c.2313C>G	c.(2311-2313)ggC>ggG	p.G771G	DENND1A_ENST00000542603.1_Silent_p.G556G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G782G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	771	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGCCCCGGGGCCAGGGCTGA	0.716																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2311-2313)ggC>ggG		DENN/MADD domain containing 1A							10	15	13					9																	126144428		2179	4275	6454	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144428G>C	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2313C>G	9.37:g.126144428G>C						DENND1A_ENST00000394219.3_Silent_p.G782G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G556G	p.G771G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			22	2514	-			771			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.2313C>G	CCDS35133.1																																																																																				0.716	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		11	50	0	0	0	1	0	11	50					C	126144428	G	C	126144428	2	2	2	1	0	0	0	0	0	0	0	1	4442	1190	42	5		5	DENND1A	9	126144428	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	11840167	126144428	15069003	49	199											
RASGEF1A	221002	broad.mit.edu	37	chr10	43697262	43697262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggagcactcacctcatcAcactgggtgacacggtgtgt	12	12	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:43697262A>G	ENST00000395809.1	-	4	2959	c.453T>C	c.(451-453)tgT>tgC	p.C151C	RASGEF1A_ENST00000374459.1_Silent_p.C159C|RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	151	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCACCTCATCACACTGGGTGA	0.617																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(451-453)tgT>tgC		RasGEF domain family, member 1A							69	58	62					10																	43697262		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43697262A>G	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.453T>C	10.37:g.43697262A>G						RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.C159C	p.C151C			Q8N9B8	RGF1A_HUMAN			4	2959	-			151			N-terminal Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.453T>C	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269595	0.05716	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.5	-2.64	0.06114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2198	0.59881	0.6996:0.0:0.3004:0.0	.	.	.	.	R	53	.	.	X	-	1	0	RASGEF1A	43017268	0.139000	0.22563	0.434000	0.26772	0.171000	0.22731	-0.404000	0.07205	-0.801000	0.04427	-1.215000	0.01618	TGA		0.617	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		11	89	0	0	0	1	0	11	89					G	43697262	A	G	43697262	2	3	2	1	0	0	0	0	0	0	0	1	13119	157	6	4		4	RASGEF1A	10	43697262	Silent	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08		43697262	91837485	50	200											
CXCL12	6387	broad.mit.edu	37	chr10	44876321	44876321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtagctcaggctgacGggcttccctagaagaggtaa	12	10	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000343575.6_Silent_p.P23P|CXCL12_ENST00000395795.4_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395793.3_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	23					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.P23P(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TCAGGCTGACGGGCTTCCCTA	0.507																																						ENST00000374429.2																			3	Substitution - coding silent(3)	p.P23P(3)	lung(3)	endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(67-69)ccC>ccT		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						197	185	189					10																	44876321		2203	4300	6503	SO:0001819	synonymous_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876321G>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"Endogenous ligands"	10672	protein-coding gene	gene with protein product		600835	"stromal cell-derived factor 1"	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.69C>T	10.37:g.44876321G>A						CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P	p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN			2	155	-			23					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.69C>T	CCDS44373.1																																																																																				0.507	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		92	564	0	0	0	1	0	92	564					A	44876321	G	A	44876321	2	1	2	1	0	0	0	0	0	0	0	1	4091	1103	39	1		1	CXCL12	10	44876321	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1179059	44876321	90658426	51	201											
GPRIN2	9721	broad.mit.edu	37	chr10	46999606	46999607	+	Frame_Shift_Ins	INS	-	-	GA													gtggcatgagggaggtgaggINSgctggtggctgctgccatgc					rs370294797|rs374420863		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:46999606_46999607insGA	ENST00000374317.1	+	3	999_1000	c.726_727insGA	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Ins_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGAGGTGAGGGCTGGTGGCTG	0.634																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(724-729)agctggfs		G protein regulated inducer of neurite outgrowth 2																																				SO:0001589	frameshift_variant	9721							g.chr10:46999606_46999607insGA	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	Exception_encountered	10.37:g.46999606_46999607insGA	ENSP00000363436:p.Ala243fs					GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs	p.SW242fs			O60269	GRIN2_HUMAN			1	1681_1682	+			242	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672).	R -> G (in dbSNP:rs3127683).			Q5SVF0	Frame_Shift_Ins	INS	ENST00000374317.1	37	c.726_727insGA	CCDS31192.1																																																																																				0.634	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		11	401						11	401	---	---	---	---	GA	46999607	-	GA	46999606	7	5	2	1	0	1	1	0	0	0	0	0	6760	1223	43	0	728	0	GPRIN2	10	46999606	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	2123285	46999606	88535141	52	202											
C10orf72	196740	broad.mit.edu	37	chr10	50315941	50315941	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaagctgtccttccgcCttttctgggagacgtggcag	12	13	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:50315941C>G	ENST00000332853.4	-	2	178	c.155G>C	c.(154-156)aGg>aCg	p.R52T	VSTM4_ENST00000298454.3_Missense_Mutation_p.R52T	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	52	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTCCTTCCGCCTTTTCTGGGA	0.617																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(154-156)aGg>aCg		V-set and transmembrane domain containing 4							43	46	45					10																	50315941		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315941C>G	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.155G>C	10.37:g.50315941C>G	ENSP00000331062:p.Arg52Thr					VSTM4_ENST00000298454.3_Missense_Mutation_p.R52T	p.R52T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	178	-			52			Ig-like.		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.155G>C	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480158	0.84747	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.02446	4.29;4.29	5.83	5.83	0.93111	.	0.097665	0.64402	D	0.000003	T	0.13200	0.0320	M	0.62723	1.935	0.53005	D	0.999964	D;D	0.76494	0.999;0.997	D;D	0.69142	0.961;0.962	T	0.06427	-1.0827	10	0.24483	T	0.36	-35.4731	20.1152	0.97926	0.0:1.0:0.0:0.0	.	52;52	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	T	52	ENSP00000331062:R52T;ENSP00000298454:R52T	ENSP00000298454:R52T	R	-	2	0	VSTM4	49985947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.120000	0.64685	2.750000	0.94351	0.655000	0.94253	AGG		0.617	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		9	98	0	0	0	1	0	9	98					G	50315941	C	G	50315941	3	3	2	1	0	0	0	0	1	0	0	0	1620	681	24	5	958	5	C10orf72	10	50315941	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	3316335	50315941	85218806	53	203											
MARCH5	54708	broad.mit.edu	37	chr10	94109589	94109589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctaatttacaaaggacaAtcttggtaagacggctttaa	7	7	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:94109589A>G	ENST00000358935.2	+	5	1047	c.715A>G	c.(715-717)Atc>Gtc	p.I239V		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	239					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACAAAGGACAATCTTGGTAAG	0.348																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(715-717)Atc>Gtc		membrane-associated ring finger (C3HC4) 5							105	101	102					10																	94109589		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109589A>G	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.715A>G	10.37:g.94109589A>G	ENSP00000351813:p.Ile239Val						p.I239V	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	1047	+			239						Missense_Mutation	SNP	ENST00000358935.2	37	c.715A>G	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.139263	0.56936	.	.	ENSG00000198060	ENST00000358935	T	0.46819	0.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	N	0.25380	0.74	0.80722	D	1	B	0.21606	0.058	B	0.15484	0.013	T	0.10917	-1.0609	10	0.27785	T	0.31	-6.4219	16.3512	0.83208	1.0:0.0:0.0:0.0	.	239	Q9NX47	MARH5_HUMAN	V	239	ENSP00000351813:I239V	ENSP00000351813:I239V	I	+	1	0	MARCH5	94099569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.102000	0.94226	2.266000	0.75297	0.533000	0.62120	ATC		0.348	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		48	321	0	0	0	1	0	48	321					G	94109589	A	G	94109589	3	3	2	1	0	0	0	0	1	0	0	0	9345	101	4	4	733	4	MARCH5	10	94109589	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	43793648	94109589	41425158	54	204											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		11	1285						11	1285	---	---	---	---	-	35513670	C	-	35513670	7	5	2	1	0	1	0	1	0	0	0	0	11455	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-2J-AAB4-01A-12D-A40W-08		35513670	99492846	55	205											
GANAB	23193	broad.mit.edu	37	chr11	62398507	62398512	+	In_Frame_Del	DEL	AGACTA	AGACTA	-													gggaaaaccatgtacctgtgAgactagcatattgccggaaa							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:62398507_62398512delAGACTA	ENST00000356638.3	-	10	1156_1161	c.1140_1145delTAGTCT	c.(1138-1146)gctagtctc>gcc	p.SL381del	GANAB_ENST00000540933.1_In_Frame_Del_p.SL284del|GANAB_ENST00000346178.4_In_Frame_Del_p.SL403del|GANAB_ENST00000534779.1_In_Frame_Del_p.SL289del|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	381					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGTACCTGTGAGACTAGCATATTGCC	0.495																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1204-1212)gcc>gc		glucosidase, alpha; neutral AB																																				SO:0001651	inframe_deletion	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398507_62398512delAGACTA	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1140_1145delTAGTCT	11.37:g.62398507_62398512delAGACTA	ENSP00000349053:p.Ser381_Leu382del					GANAB_ENST00000540933.1_In_Frame_Del_p.ASL283del|GANAB_ENST00000356638.3_In_Frame_Del_p.ASL380del|GANAB_ENST00000534779.1_In_Frame_Del_p.ASL288del	p.ASL402del	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			11	1221_1226	-			380					A6NC20|Q8WTS9|Q9P0X0	In_Frame_Del	DEL	ENST00000356638.3	37	c.1206_1211delTAGTCT	CCDS8026.1																																																																																				0.495	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		78	566						78	566	---	---	---	---	-	62398512	AGACTA	-	62398507	7	5	2	1	0	1	0	1	0	0	0	0	6261	304	11	0	1749	0	GANAB	11	62398507	In_Frame_Del	DEL	AGACTA	TCGA-2J-AAB4-01A-12D-A40W-08	26884837	62398507	72608009	56	206											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343247	130343247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacaccgccccgggtccGctactccttctatctgccca	8	18	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:130343247G>A	ENST00000299164.2	+	8	2384	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	795	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCCGGGTCCGCTACTCCTTC	0.657																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2383-2385)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							86	98	94					11																	130343247		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343247G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2384G>A	11.37:g.130343247G>A	ENSP00000299164:p.Arg795His						p.R795H	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2384	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	795			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2384G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964311	0.92791	.	.	ENSG00000166106	ENST00000299164	T	0.52526	0.66	5.91	4.99	0.66335	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.58177	0.2104	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.55366	-0.8152	9	0.30854	T	0.27	.	16.5512	0.84473	0.0:0.0:0.8684:0.1316	.	795	Q8TE58	ATS15_HUMAN	H	795	ENSP00000299164:R795H	ENSP00000299164:R795H	R	+	2	0	ADAMTS15	129848457	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.428000	0.73383	1.498000	0.48600	0.655000	0.94253	CGC		0.657	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		215	681	0	0	0	1	0	215	681					A	130343247	G	A	130343247	3	1	2	1	0	0	0	0	1	0	0	0	260	1087	38	1	2414	1	ADAMTS15	11	130343247	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	67944740	130343247	4663269	57	207											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	165	1	0	9.95505e-16	1	1.05772e-15	18	165					A	25398284	C	A	25398284	3	1	2	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		25398284	108453611	58	208											
LMBR1L	55716	broad.mit.edu	37	chr12	49491751	49491751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggatcagctctgcccGcacagctgcagtgaaggtct	13	14	3	1	rs371228926		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:49491751G>A	ENST00000267102.8	-	16	1720	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	460					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCTCTGCCCGCACAGCTGCA	0.562											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267102.8																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1378-1380)Cgg>Tgg		limb development membrane protein 1-like		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	105	107	106		1378	2.5	1	12		106	0,8600		0,0,4300	no	missense	LMBR1L	NM_018113.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	460/490	49491751	1,13005	2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49491751G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1378C>T	12.37:g.49491751G>A	ENSP00000267102:p.Arg460Trp		OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W	p.R460W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN			16	1720	-			460					Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.1378C>T	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231485	0.79688	2.27E-4	0.0	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.58506	0.41;0.33;0.37	5.84	2.54	0.30619	.	0.054147	0.64402	D	0.000001	T	0.66287	0.2774	L	0.43923	1.385	0.41689	D	0.989332	D;D;D	0.89917	0.996;0.993;1.0	P;P;D	0.67231	0.649;0.548;0.95	T	0.69439	-0.5145	10	0.87932	D	0	.	13.789	0.63128	0.0:0.0:0.5232:0.4768	.	440;460;455	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	W	460;440;455	ENSP00000267102:R460W;ENSP00000447329:R440W;ENSP00000378573:R455W	ENSP00000267102:R460W	R	-	1	2	LMBR1L	47778018	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.523000	0.73787	0.620000	0.30215	0.563000	0.77884	CGG		0.562	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		6	514	0	0	0	1	0	6	514					A	49491751	G	A	49491751	3	1	2	1	0	0	0	0	1	0	0	0	8874	1086	38	1	99	1	LMBR1L	12	49491751	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	24093467	49491751	84360144	59	209											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	867						10	867	---	---	---	---	-	21961062	GCT	-	21961060	7	5	2	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-2J-AAB4-01A-12D-A40W-08		21961060	85388480	60	210											
FBXO34	55030	broad.mit.edu	37	chr14	55818287	55818287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagttagagccgggttcGcaaactgccgtgaaaaacag	13	9	0	3	rs553317019		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:55818287G>A	ENST00000313833.4	+	2	1424	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	FBXO34_ENST00000440021.1_Silent_p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	393										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCCGGGTTCGCAAACTGCCG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.001					ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1177-1179)tcG>tcA		F-box protein 34							121	105	110					14																	55818287		2203	4300	6503	SO:0001819	synonymous_variant	55030							g.chr14:55818287G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1179G>A	14.37:g.55818287G>A						FBXO34_ENST00000440021.1_Silent_p.S393S	p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1424	+			393					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.1179G>A	CCDS32086.1																																																																																				0.507	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			7	509	0	0	0	1	0	7	509					A	55818287	G	A	55818287	2	1	2	1	0	0	0	0	0	0	0	1	5769	1074	38	1		1	FBXO34	14	55818287	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	33857227	55818287	51531253	61	211											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	114						7	114	---	---	---	---	-	74205928	CTG	-	74205926	7	5	2	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-2J-AAB4-01A-12D-A40W-08	18387639	74205926	33143614	62	212											
ATG2B	55102	broad.mit.edu	37	chr14	96769570	96769570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggtttgcatggcgggTagacttcatgctgaaacttc	11	8	2	2	rs545591952	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:96769570T>C	ENST00000359933.4	-	33	5758	c.4865A>G	c.(4864-4866)tAc>tGc	p.Y1622C	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1622					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCATGGCGGGTAGACTTCATG	0.433																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4864-4866)tAc>tGc		autophagy related 2B							86	86	86					14																	96769570		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96769570T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4865A>G	14.37:g.96769570T>C	ENSP00000353010:p.Tyr1622Cys					ATG2B_ENST00000261834.5_5'UTR	p.Y1622C	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	33	5758	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1622					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4865A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153369	0.78114	.	.	ENSG00000066739	ENST00000359933	T	0.24723	1.84	5.74	4.58	0.56647	.	0.199272	0.45361	D	0.000377	T	0.53916	0.1826	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60296	-0.7291	10	0.87932	D	0	.	12.2148	0.54400	0.1341:0.0:0.0:0.8659	.	1622	Q96BY7	ATG2B_HUMAN	C	1622	ENSP00000353010:Y1622C	ENSP00000261834:Y266C	Y	-	2	0	ATG2B	95839323	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.701000	0.68325	1.079000	0.41038	0.460000	0.39030	TAC		0.433	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		35	212	0	0	0	1	0	35	212					C	96769570	T	C	96769570	3	2	2	1	0	0	0	0	1	0	0	0	1095	1638	57	4	1411	4	ATG2B	14	96769570	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	22563644	96769570	10579970	63	213											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		8	794						8	794	---	---	---	---	-	34393993	AGC	-	34393991	7	5	2	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AAB4-01A-12D-A40W-08		34393991	68137401	64	214											
VPS13C	54832	broad.mit.edu	37	chr15	62255003	62255003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataatattttctagtcggGcaaaaagtgactgctttctt	7	7	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:62255003G>A	ENST00000261517.5	-	33	3453	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTAGTCGGGCAAAAAGTGA	0.328																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3379-3381)gCc>gTc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							79	80	79					15																	62255003		2203	4299	6502	SO:0001583	missense	54832				protein localization			g.chr15:62255003G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3380C>T	15.37:g.62255003G>A	ENSP00000261517:p.Ala1127Val					VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V	p.A1127V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			33	3453	-			1127						Missense_Mutation	SNP	ENST00000261517.5	37	c.3380C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012850	0.35511	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;0.9	5.93	5.01	0.66863	.	0.386164	0.25909	N	0.027516	T	0.38214	0.1032	M	0.62266	1.93	0.53005	D	0.999967	B;B;B;B	0.29232	0.238;0.238;0.238;0.153	B;B;B;B	0.30855	0.121;0.121;0.121;0.076	T	0.12293	-1.0553	10	0.23891	T	0.37	.	9.4557	0.38753	0.0712:0.0:0.7853:0.1436	.	1084;1127;1084;1127	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1084;1127;1127;1127	ENSP00000249837:A1084V;ENSP00000261517:A1127V;ENSP00000379233:A1127V	ENSP00000249837:A1084V	A	-	2	0	VPS13C	60042295	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.845000	0.75394	2.805000	0.96524	0.655000	0.94253	GCC		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	248	0	0	0	1	0	5	248					A	62255003	G	A	62255003	3	1	2	1	0	0	0	0	1	0	0	0	17245	1203	42	2	8121	2	VPS13C	15	62255003	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	27861012	62255003	40276389	65	215											
CASKIN1	57524	broad.mit.edu	37	chr16	2228635	2228635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgccagtgctcttttcCgccgccgagtcgctgcgggg	14	14	1	0	rs369309592		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:2228635C>T	ENST00000343516.6	-	20	4304	c.4212G>A	c.(4210-4212)gcG>gcA	p.A1404A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1404					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTCTTTTCCGCCGCCGAGT	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		7187	0.0		0.0	False		,,,				2504	0.0					ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4210-4212)gcG>gcA		CASK interacting protein 1		C		7,4207		0,7,2100	18	23	21		4212	-8.9	0	16		21	0,8496		0,0,4248	no	coding-synonymous	CASKIN1	NM_020764.3		0,7,6348	TT,TC,CC		0.0,0.1661,0.0551		1404/1432	2228635	7,12703	2107	4248	6355	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2228635C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4212G>A	16.37:g.2228635C>T							p.A1404A	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			20	4304	-			1404					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.4212G>A	CCDS42103.1																																																																																				0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		14	104	0	0	0	1	0	14	104					T	2228635	C	T	2228635	2	4	2	1	0	0	0	0	0	0	0	1	2673	639	23	1		1	CASKIN1	16	2228635	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		2228635	88126118	66	216											
MEFV	4210	broad.mit.edu	37	chr16	3293521	3293521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtctccaacctccacctCccagtaacggcggccagaga	8	17	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:3293521C>T	ENST00000219596.1	-	10	2005	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	MEFV_ENST00000536379.1_Missense_Mutation_p.E445K|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	656	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		E -> A (in arFMF). {ECO:0000269|PubMed:16730661}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACCTCCACCTCCCAGTAACGG	0.542																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1966-1968)Gag>Aag		Mediterranean fever	Colchicine(DB01394)						105	106	105					16																	3293521		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293521C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1966G>A	16.37:g.3293521C>T	ENSP00000219596:p.Glu656Lys					MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000536379.1_Missense_Mutation_p.E445K	p.E656K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	2005	-			656		E -> A (in arFMF).	B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1966G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791684	0.70452	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.77620	-1.11;-1.11;-1.11	5.03	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.139173	0.33110	N	0.005270	D	0.92750	0.7695	H	0.99312	4.51	0.37407	D	0.913101	D	0.89917	1.0	D	0.85130	0.997	D	0.96110	0.9076	10	0.87932	D	0	.	13.8796	0.63674	0.0:0.846:0.154:0.0	.	656	O15553	MEFV_HUMAN	K	656;656;476;445	ENSP00000219596:E656K;ENSP00000339639:E476K;ENSP00000445079:E445K	ENSP00000219596:E656K	E	-	1	0	MEFV	3233522	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.985000	0.56930	2.496000	0.84212	0.650000	0.86243	GAG		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		94	456	0	0	0	1	0	94	456					T	3293521	C	T	3293521	3	4	2	1	0	0	0	0	1	0	0	0	9500	864	30	2	383	2	MEFV	16	3293521	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	1064886	3293521	87061232	67	217											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	515						8	515	---	---	---	---	-	15729984	CCA	-	15729982	7	5	2	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-2J-AAB4-01A-12D-A40W-08	12436461	15729982	74624771	68	218											
C16orf88	400506	broad.mit.edu	37	chr16	19722723	19722724	+	Frame_Shift_Ins	INS	-	-	T													tgcgcctcatccatgttgccINSttttttttccaacaccacct							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:19722723_19722724insT	ENST00000219837.7	-	3	1035_1036	c.957_958insA	c.(955-960)aaaggcfs	p.G320fs	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	320	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G320fs*5(1)|p.K319N(1)									TCCATGTTGCCTTTTTTTTCCA	0.564																																						ENST00000219837.7																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.G320fs*5(1)|p.K319N(1)	large_intestine(1)|lung(1)								c.(955-960)aagcaafs		lysine-rich nucleolar protein 1																																				SO:0001589	frameshift_variant	400506							g.chr16:19722723_19722724insT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.958dupA	16.37:g.19722731_19722731dupT	ENSP00000219837:p.Gly320fs					KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	p.Q320fs	NM_001012991.2	NP_001013009.2					3	1035_1036	-								O43328|Q5FWF3	Frame_Shift_Ins	INS	ENST00000219837.7	37	c.957_958insA	CCDS42127.1																																																																																				0.564	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		7	395						7	395	---	---	---	---	T	19722724	-	T	19722723	7	5	2	1	0	1	1	0	0	0	0	0	1846	681	24	0	430	0	C16orf88	16	19722723	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	3992741	19722723	70632030	69	219											
DNAH3	55567	broad.mit.edu	37	chr16	21080894	21080894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaaattgtcttgtatgcGaattagcttttcttcccatt	5	9	2	0	rs541368919	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:21080894G>A	ENST00000261383.3	-	23	3222	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	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.R1075C(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)		TCTTGTATGCGAATTAGCTTT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.002					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1075C(2)	large_intestine(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						c.(3223-3225)Cgc>Tgc		dynein, axonemal, heavy chain 3							168	126	140					16																	21080894		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.chr16:21080894G>A	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.3223C>T	16.37:g.21080894G>A	ENSP00000261383:p.Arg1075Cys					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3222	-			1075			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3223C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521152	0.27211	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62232	0.04;0.04	5.4	4.38	0.52667	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.67571	0.2907	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.56916	0.809	T	0.59920	-0.7363	10	0.49607	T	0.09	.	5.2981	0.15764	0.0831:0.1449:0.6224:0.1496	.	1075	Q8TD57	DYH3_HUMAN	C	1075	ENSP00000261383:R1075C;ENSP00000394245:R1075C	ENSP00000261383:R1075C	R	-	1	0	DNAH3	20988395	0.019000	0.18553	0.931000	0.37212	0.665000	0.39181	1.662000	0.37418	2.696000	0.92011	0.655000	0.94253	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		46	313	0	0	0	1	0	46	313					A	21080894	G	A	21080894	3	1	2	1	0	0	0	0	1	0	0	0	4619	1058	37	1	9286	1	DNAH3	16	21080894	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1358171	21080894	69273859	70	220											
ABCC12	94160	broad.mit.edu	37	chr16	48145558	48145558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccattgctgcattgtAaaggtgttcaggatcctgga	10	9	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:48145558A>G	ENST00000311303.3	-	15	2485	c.2140T>C	c.(2140-2142)Tac>Cac	p.Y714H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	714						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGCATTGTAAAGGTGTTCA	0.488																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2140-2142)Tac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							221	231	227					16																	48145558		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145558A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2140T>C	16.37:g.48145558A>G	ENSP00000311030:p.Tyr714His					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H	p.Y714H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			15	2485	-		all_cancers(37;0.0474)|all_lung(18;0.047)	714					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2140T>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146953	0.09134	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.91894	-2.77;-2.93	5.19	2.96	0.34315	.	0.997368	0.08124	N	0.994277	D	0.82990	0.5157	N	0.12182	0.205	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.72308	-0.4332	10	0.32370	T	0.25	.	6.2311	0.20736	0.8025:0.0:0.1975:0.0	.	714	Q96J65	MRP9_HUMAN	H	714;714;656	ENSP00000311030:Y714H;ENSP00000401855:Y714H	ENSP00000311030:Y714H	Y	-	1	0	ABCC12	46703059	0.808000	0.29022	0.799000	0.32177	0.029000	0.11900	1.678000	0.37586	0.808000	0.34231	-0.411000	0.06167	TAC		0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		7	1010	0	0	0	1	0	7	1010					G	48145558	A	G	48145558	3	3	2	1	0	0	0	0	1	0	0	0	52	362	13	4	1999	4	ABCC12	16	48145558	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	27064664	48145558	42209195	71	221											
DLG4	1742	broad.mit.edu	37	chr17	7100076	7100076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaggccttccctcacCgacaggatctggtccccctt	11	16	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7100076C>T	ENST00000399506.2	-	9	1274	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	DLG4_ENST00000302955.6_Splice_Site_p.S358S|DLG4_ENST00000399510.2_Splice_Site_p.S404S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	361	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CTTCCCTCACCGACAGGATCT	0.667																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.e11+1		discs, large homolog 4 (Drosophila)							12	15	14					17																	7100076		2039	4180	6219	SO:0001630	splice_region_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7100076C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1083+1G>A	17.37:g.7100076C>T						DLG4_ENST00000302955.6_Splice_Site_p.S358_splice|DLG4_ENST00000399506.2_Splice_Site_p.S361_splice	p.S404_splice	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			11	2064	-			361					B7Z1S1|G5E939|Q92941|Q9UKK8	Splice_Site	SNP	ENST00000399506.2	37	c.1212_splice																																																																																					0.667	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	Silent	5	37	0	0	0	1	0	5	37					T	7100076	C	T	7100076	5	4	2	1	0	0	0	0	0	0	1	0	4573	666	23	1	1139	1	DLG4	17	7100076	Splice_Site	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		7100076	74095134	72	222											
TP53	7157	broad.mit.edu	37	chr17	7578554	7578554	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgagggcaggggagtActgtaggaagaggaaggaga	19	3	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7578554A>T	ENST00000269305.4	-	5	565	c.376T>A	c.(376-378)Tac>Aac	p.Y126N	TP53_ENST00000445888.2_Splice_Site_p.Y126N|TP53_ENST00000455263.2_Splice_Site_p.Y126N|TP53_ENST00000359597.4_Splice_Site_p.Y126N|TP53_ENST00000413465.2_Splice_Site_p.Y126N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.Y126N	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)	GCAGGGGAGTACTGTAGGAAG	0.557		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)	ENST00000420246.2		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"		40	Substitution - Missense(17)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - In frame(1)|Unknown(1)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(4)|large_intestine(4)|lung(4)|prostate(4)|bone(4)|breast(3)|ovary(2)|stomach(1)|liver(1)|oesophagus(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	GRCh37	CI004819	TP53	I		c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42	43	43					17																	7578554		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578554A>T	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.376-1T>A	17.37:g.7578554A>T		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_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice	p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639687	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.48	5.48	0.80851	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	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.961;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	1.0:0.0:0.0:0.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126N;ENSP00000352610:Y126N;ENSP00000269305:Y126N;ENSP00000398846:Y126N;ENSP00000391127:Y126N;ENSP00000391478:Y126N;ENSP00000423862:Y33N;ENSP00000424104:Y126N;ENSP00000426252:Y126N	ENSP00000269305:Y126N	Y	-	1	0	TP53	7519279	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.240000	0.95396	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	20	80	0	0	0	1	0	20	80					T	7578554	A	T	7578554	5	4	2	1	0	0	0	0	0	0	1	0	16434	405	14	5	922	5	TP53	17	7578554	Splice_Site	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	478478	7578554	73616656	73	223											
MYH10	4628	broad.mit.edu	37	chr17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G													gtcggtcgtctccccgtcgaINSgttttcttttggccttttcc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:8409750_8409751insG	ENST00000269243.4	-	25	3316_3317	c.3178_3179insC	c.(3178-3180)ctcfs	p.L1060fs	MYH10_ENST00000360416.3_Frame_Shift_Ins_p.L1091fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.L1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.L1076fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3271-3273)cgafs		myosin, heavy chain 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409750_8409751insG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3179dupC	17.37:g.8409751_8409751dupG	ENSP00000269243:p.Leu1060fs					MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs	p.R1091fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3409_3410	-			1060					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Ins	INS	ENST00000269243.4	37	c.3271_3272insC	CCDS11144.1																																																																																				0.515	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	465						8	465	---	---	---	---	G	8409751	-	G	8409750	7	5	2	1	0	1	1	0	0	0	0	0	10071	304	11	0	2819	0	MYH10	17	8409750	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	831196	8409750	72785460	74	224											
ZNF207	7756	broad.mit.edu	37	chr17	30677314	30677316	+	In_Frame_Del	DEL	AAG	AAG	-													agaacacagttatgggtcgcAagaagaagaagcagctgaag							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:30677314_30677316delAAG	ENST00000321233.6	+	1	164_166	c.10_12delAAG	c.(10-12)aagdel	p.K7del	ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	7	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATGGGTCGCAAGAAGAAGAAGC	0.542																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(10-12)del		zinc finger protein 207																																				SO:0001651	inframe_deletion	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677314_30677316delAAG	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.10_12delAAG	17.37:g.30677323_30677325delAAG	ENSP00000322777:p.Lys7del					ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del	p.K7del	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	179_181	+		Breast(31;0.116)|Ovarian(249;0.182)	7					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	In_Frame_Del	DEL	ENST00000321233.6	37	c.10_12delAAG	CCDS11271.1																																																																																				0.542	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			8	825						8	825	---	---	---	---	-	30677316	AAG	-	30677314	7	5	2	1	0	1	0	1	0	0	0	0	17818	131	5	0	12	0	ZNF207	17	30677314	In_Frame_Del	DEL	AAG	TCGA-2J-AAB4-01A-12D-A40W-08	22267564	30677314	50517896	75	225											
SLC16A5	9121	broad.mit.edu	37	chr17	73094196	73094197	+	Frame_Shift_Ins	INS	-	-	G													accgtgatgctggggggcgtINSgctggccagcctgggcatgg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:73094196_73094197insG	ENST00000450736.2	+	3	678_679	c.263_264insG	c.(262-267)gtgctgfs	p.L89fs	SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.L89fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.L129fs|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.L89fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	89					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGGGGGCGTGCTGGCCAGCC	0.604																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(262-264)gctfs		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73094196_73094197insG	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.264dupG	17.37:g.73094197_73094197dupG	ENSP00000390564:p.Leu89fs					SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.A128fs	p.A88fs			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	678_679	+	all_lung(278;0.226)		88					B4E288	Frame_Shift_Ins	INS	ENST00000450736.2	37	c.263_264insG	CCDS11713.1																																																																																				0.604	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		12	513						12	513	---	---	---	---	G	73094197	-	G	73094196	7	5	2	1	0	1	1	0	0	0	0	0	14461	1696	59	0	269	0	SLC16A5	17	73094196	Frame_Shift_Ins	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	42416882	73094196	8101014	76	226											
RBBP8	5932	broad.mit.edu	37	chr18	20602110	20602110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattatgcagatatgccaGcagaagaaagagaaaagaaa	10	4	0	5			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:20602110G>A	ENST00000399722.2	+	18	2824	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	825					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGATATGCCAGCAGAAGAAAG	0.353								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2473-2475)Gca>Aca	Homologous recombination	retinoblastoma binding protein 8							122	131	128					18																	20602110		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20602110G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2473G>A	18.37:g.20602110G>A	ENSP00000382628:p.Ala825Thr					RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T	p.A825T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		18	2824	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		825					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.2473G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495044	0.44352	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.32272	1.47;1.47;1.46	5.93	3.14	0.36123	.	0.054739	0.64402	D	0.000001	T	0.25606	0.0623	L	0.29908	0.895	0.32479	N	0.541741	P;P	0.47191	0.891;0.656	P;B	0.46419	0.516;0.297	T	0.22695	-1.0209	10	0.25751	T	0.34	-9.1687	10.6324	0.45545	0.0674:0.2497:0.6829:0.0	.	830;825	E7ETY1;Q99708	.;COM1_HUMAN	T	825;825;830	ENSP00000323050:A825T;ENSP00000382628:A825T;ENSP00000354024:A830T	ENSP00000323050:A825T	A	+	1	0	RBBP8	18856108	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.513000	0.81739	0.384000	0.24942	0.585000	0.79938	GCA		0.353	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		6	770	0	0	0	1	0	6	770					A	20602110	G	A	20602110	3	1	2	1	0	0	0	0	1	0	0	0	13155	971	34	2	2539	2	RBBP8	18	20602110	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		20602110	57475138	77	227											
SYT4	6860	broad.mit.edu	37	chr18	40853958	40853958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtttctcttctgaagTaagggaagtgctggacttta	10	7	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:40853958T>A	ENST00000255224.3	-	2	804	c.436A>T	c.(436-438)Act>Tct	p.T146S	SYT4_ENST00000590752.1_Missense_Mutation_p.T128S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	146					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTCTGAAGTAAGGGAAGTG	0.448																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(436-438)Act>Tct		synaptotagmin IV							49	49	49					18																	40853958		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853958T>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.436A>T	18.37:g.40853958T>A	ENSP00000255224:p.Thr146Ser					SYT4_ENST00000590752.1_Missense_Mutation_p.T128S|SYT4_ENST00000586678.1_Intron	p.T146S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	804	-			146					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.436A>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.718377	0.00093	.	.	ENSG00000132872	ENST00000255224	T	0.07800	3.16	5.87	0.661	0.17874	.	0.510618	0.23724	N	0.045196	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45977	-0.9224	10	0.02654	T	1	.	6.2987	0.21101	0.5002:0.1473:0.0:0.3526	.	128;146	B4DEU3;Q9H2B2	.;SYT4_HUMAN	S	146	ENSP00000255224:T146S	ENSP00000255224:T146S	T	-	1	0	SYT4	39107956	0.020000	0.18652	0.091000	0.20842	0.126000	0.20510	0.155000	0.16362	-0.290000	0.09025	-1.427000	0.01099	ACT		0.448	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		36	163	0	0	0	1	0	36	163					A	40853958	T	A	40853958	3	1	2	1	0	0	0	0	1	0	0	0	15528	1638	57	5	853	5	SYT4	18	40853958	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	20251848	40853958	37223290	78	228											
SMAD4	4089	broad.mit.edu	37	chr18	48584504	48584504	+	Frame_Shift_Del	DEL	C	C	-													tgttcctctaggtcagcctgCcagtatactggggggcagcc					rs539739051		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:48584504delC	ENST00000342988.3	+	6	1215	c.677delC	c.(676-678)gccfs	p.A226fs	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	226					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAGCCTGCCAGTATACTG	0.438																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(676-678)gcfs		SMAD family member 4							65	60	62					18																	48584504		2203	4300	6503	SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584504delC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.677delC	18.37:g.48584504delC	ENSP00000341551:p.Ala226fs					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs	p.A226fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	6	1215	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	226					A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.677delC	CCDS11950.1																																																																																				0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		36	170						36	170	---	---	---	---	-	48584504	C	-	48584504	7	5	2	1	0	1	0	1	0	0	0	0	14810	739	26	0	695	0	SMAD4	18	48584504	Frame_Shift_Del	DEL	C	TCGA-2J-AAB4-01A-12D-A40W-08	7730546	48584504	29492744	79	229											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	1034	0	0	0	1	0	7	1034					C	12155673	A	C	12155673	3	2	2	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08		12155673	46973310	80	230											
ZNF506	440515	broad.mit.edu	37	chr19	19905821	19905821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggatgaaataaaggctTtgccacatttatcacacttg	8	7	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:19905821T>C	ENST00000540806.2	-	4	963	c.875A>G	c.(874-876)aAa>aGa	p.K292R	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.K292R|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AATAAAGGCTTTGCCACATTT	0.383																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(874-876)aAa>aGa		zinc finger protein 506							48	52	51					19																	19905821		2198	4300	6498	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905821T>C	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.875A>G	19.37:g.19905821T>C	ENSP00000440625:p.Lys292Arg					ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K292R|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA	p.K292R			Q5JVG8	ZN506_HUMAN			4	1022	-			292					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.875A>G	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	12.46	1.944705	0.34283	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.35789	1.75;1.75;1.29	0.974	0.974	0.19715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	L	0.33339	1.005	0.30874	N	0.732139	B;B	0.20368	0.044;0.005	B;B	0.32465	0.146;0.009	T	0.37174	-0.9717	9	0.62326	D	0.03	.	5.7771	0.18285	0.0:0.0:0.0:1.0	.	292;260	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	R	292;292;260	ENSP00000393835:K292R;ENSP00000440625:K292R;ENSP00000408892:K260R	ENSP00000393835:K292R	K	-	2	0	ZNF506	19766821	0.999000	0.42202	0.339000	0.25562	0.301000	0.27625	5.174000	0.65015	0.358000	0.24211	0.347000	0.21830	AAA		0.383	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		44	278	0	0	0	1	0	44	278					C	19905821	T	C	19905821	3	2	2	1	0	0	0	0	1	0	0	0	18005	1841	64	4	463	4	ZNF506	19	19905821	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	7750148	19905821	39223162	81	231											
ZNF93	81931	broad.mit.edu	37	chr19	20045210	20045210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagagaaaccctacaaAtgtgaagaatgtggcaaagc	11	7	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:20045210A>G	ENST00000343769.5	+	4	1474	c.1446A>G	c.(1444-1446)aaA>aaG	p.K482K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCCTACAAATGTGAAGAAT	0.378																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1444-1446)aaA>aaG		zinc finger protein 93																																				SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045210A>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1446A>G	19.37:g.20045210A>G						AC007204.2_ENST00000592245.1_lincRNA	p.K482K	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1474	+			482					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.1446A>G	CCDS32973.1																																																																																				0.378	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		5	575	0	0	0	1	0	5	575					G	20045210	A	G	20045210	2	3	2	1	0	0	0	0	0	0	0	1	18255	98	4	4		4	ZNF93	19	20045210	Silent	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	139389	20045210	39083773	82	232											
C19orf2	8725	broad.mit.edu	37	chr19	30433560	30433560	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgtggcgcggctgcgcgagGagcaggaaaaggtaactagc	17	8	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:30433560G>C	ENST00000542441.2	+	1	403	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	URI1_ENST00000312051.6_Missense_Mutation_p.R7S|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	36					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GCTGCGCGAGGAGCAGGAAAA	0.786																																						ENST00000542441.2																			0											c.(106-108)Gag>Cag		URI1, prefoldin-like chaperone							6	8	7					19																	30433560		1553	3538	5091	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30433560G>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.106G>C	19.37:g.30433560G>C	ENSP00000442436:p.Glu36Gln					URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.R7S	p.E36Q			O94763	RMP_HUMAN			1	403	+			36					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.106G>C	CCDS12420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.547386|2.547386	0.45383|0.45383	.|.	.|.	ENSG00000105176|ENSG00000105176	ENST00000542441|ENST00000312051	T|.	0.76839|.	-1.05|.	3.32|3.32	3.32|3.32	0.38043|0.38043	Prefoldin (1);|.	.|.	.|.	.|.	.|.	T|T	0.49321|0.49321	0.1550|0.1550	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|D	0.30482|0.54772	0.281|0.968	B|D	0.30179|0.72625	0.112|0.978	T|T	0.52480|0.52480	-0.8570|-0.8570	9|8	0.33141|0.46703	T|T	0.24|0.11	-0.4062|-0.4062	10.2972|10.2972	0.43631|0.43631	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	36|7	O94763|F8W9T0	RMP_HUMAN|.	Q|S	36|7	ENSP00000442436:E36Q|.	ENSP00000442436:E36Q|ENSP00000312530:R7S	E|R	+|+	1|3	0|2	C19orf2|C19orf2	35125400|35125400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	3.268000|3.268000	0.51585|0.51585	1.821000|1.821000	0.53095|0.53095	0.305000|0.305000	0.20034|0.20034	GAG|AGG		0.786	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		14	84	0	0	0	1	0	14	84					C	30433560	G	C	30433560	3	2	2	1	0	0	0	0	1	0	0	0	1918	1175	41	5	108	5	C19orf2	19	30433560	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	10388350	30433560	28695423	83	233											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			12	1432						12	1432	---	---	---	---	-	36255949	CTC	-	36255947	7	5	2	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-2J-AAB4-01A-12D-A40W-08	5822387	36255947	22873036	84	234											
ZNF345	25850	broad.mit.edu	37	chr19	37368703	37368703	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagtgtgagaaagcctttaGaagtggttcaaaacttattc	11	5	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:37368703G>A	ENST00000529555.1	+	2	1759	c.971G>A	c.(970-972)aGa>aAa	p.R324K	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K			Q14585	ZN345_HUMAN	zinc finger protein 345	324					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTAGAAGTGGTTCA	0.413																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(970-972)aGa>aAa		zinc finger protein 345							75	81	79					19																	37368703		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368703G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.971G>A	19.37:g.37368703G>A	ENSP00000431202:p.Arg324Lys					ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K|ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000432005.2_Intron	p.R324K			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1759	+	Esophageal squamous(110;0.183)		324						Missense_Mutation	SNP	ENST00000529555.1	37	c.971G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543390	0.27563	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07327	3.2;3.2	3.8	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.03304	-0.355	0.09310	N	0.999994	B	0.13594	0.008	B	0.18561	0.022	T	0.39482	-0.9612	9	0.45353	T	0.12	.	5.1601	0.15056	0.117:0.2162:0.6668:0.0	.	324	Q14585	ZN345_HUMAN	K	324;324;88	ENSP00000431216:R324K;ENSP00000431202:R324K	ENSP00000442320:R88K	R	+	2	0	ZNF345	42060543	0.000000	0.05858	0.999000	0.59377	0.978000	0.69477	-1.214000	0.02988	0.857000	0.35407	0.462000	0.41574	AGA		0.413	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			60	341	0	0	0	1	0	60	341					A	37368703	G	A	37368703	3	1	2	1	0	0	0	0	1	0	0	0	17912	942	33	2	973	2	ZNF345	19	37368703	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1112756	37368703	21760280	85	235											
PRX	57716	broad.mit.edu	37	chr19	40902612	40902612	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtttcatctctgacactttCggcagctgtacctctggaag	9	11	3	1	rs202113722		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577																																						ENST00000324001.7																			1	Substitution - coding silent(1)	p.P549P(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1645-1647)ccG>ccC		periaxin							89	102	97					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902612C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1647G>C	19.37:g.40902612C>G						PRX_ENST00000291825.7_3'UTR	p.P549P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1917	-			549			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1647G>C	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	719	0	0	0	1	0	9	719					G	40902612	C	G	40902612	2	3	2	1	0	0	0	0	0	0	0	1	12689	871	31	5		5	PRX	19	40902612	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	3533909	40902612	18226371	86	236											
PSG1	5669	broad.mit.edu	37	chr19	43383710	43383710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgatgcgctgtgtgcaGggaggggctgagagggttcc	18	7	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:43383710G>A	ENST00000436291.2	-	1	140	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P|PSG1_ENST00000244296.2_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.P8P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	8					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGTGTGCAGGGAGGGGCTG	0.572																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(22-24)ccC>ccT		pregnancy specific beta-1-glycoprotein 1							186	159	169					19																	43383710		1510	2707	4217	SO:0001819	synonymous_variant	0							g.chr19:43383710G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.24C>T	19.37:g.43383710G>A						PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Silent_p.P8P|PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P	p.P8P	NM_006905.2	NP_008836.2					1	161	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.24C>T	CCDS54275.1																																																																																				0.572	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			88	407	0	0	0	1	0	88	407					A	43383710	G	A	43383710	2	1	2	1	0	0	0	0	0	0	0	1	12700	987	35	2		2	PSG1	19	43383710	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	2481098	43383710	15745273	87	237											
RUVBL2	10856	broad.mit.edu	37	chr19	49507662	49507662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgggcacggggaagacGgccatcgccatgggtaagaa	16	11	0	2	rs371113905	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:49507662G>A	ENST00000595090.1	+	4	716	c.252G>A	c.(250-252)acG>acA	p.T84T	RUVBL2_ENST00000413176.2_Silent_p.T39T|RUVBL2_ENST00000601968.1_Silent_p.T39T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	84					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGGGAAGACGGCCATCGCCA	0.612													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15095	0.0		0.0	False		,,,				2504	0.0					ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(115-117)acG>acA		RuvB-like AAA ATPase 2		G		10,3876		0,10,1933	45	50	48		252	-10.3	0.7	19		48	0,8284		0,0,4142	no	coding-synonymous	RUVBL2	NM_006666.1		0,10,6075	AA,AG,GG		0.0,0.2573,0.0822		84/464	49507662	10,12160	1943	4142	6085	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507662G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.252G>A	19.37:g.49507662G>A						RUVBL2_ENST00000595090.1_Silent_p.T84T|RUVBL2_ENST00000601968.1_Silent_p.T39T	p.T39T			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1265	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	84					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.117G>A	CCDS42588.1																																																																																				0.612	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			5	287	0	0	0	1	0	5	287					A	49507662	G	A	49507662	2	1	2	1	0	0	0	0	0	0	0	1	13803	1103	39	1		1	RUVBL2	19	49507662	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	6123952	49507662	9621321	88	238											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T													gggaggggcccacggtctgtCcccaccgggtccagctcagc					rs201115105		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33	38	36					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	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.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		4	205	0	0	0	1	0	4	205					T	50462043	C	T	50462043	3	4	2	1	0	0	0	0	1	0	0	0	14357	855	30	2	896	2	SIGLEC11	19	50462043	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	954381	50462043	8666940	89	239	4	2									
SIGLEC11	114132	broad.mit.edu	37	chr19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C													ggggcccacggtctgtccccAccgggtccagctcagcctgg					rs201935510	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31	37	35					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	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.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		6	204	0	0	0	1	0	6	204					C	50462047	A	C	50462047	3	2	2	1	0	0	0	0	1	0	0	0	14357	159	6	4	900	4	SIGLEC11	19	50462047	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	4	50462047	8666936	90	240	4	2									
ZNF347	84671	broad.mit.edu	37	chr19	53644061	53644061	+	Missense_Mutation	SNP	C	C	T													aggtttacctccagtatgaaCtctccgatgtcttgcaaggt							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:53644061C>T	ENST00000334197.7	-	5	2088	c.2020G>A	c.(2020-2022)Gtt>Att	p.V674I	ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.V675I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGAACTCTCCGATGT	0.423																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2023-2025)Gtt>Att		zinc finger protein 347							160	146	151					19																	53644061		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644061C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2020G>A	19.37:g.53644061C>T	ENSP00000334146:p.Val674Ile					ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I	p.V675I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2449	-			674					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2023G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427580	0.01117	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.10645	0.015	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.44097	-0.9350	9	0.02654	T	1	.	4.6709	0.12689	0.0:0.2991:0.1577:0.5431	.	675;674	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	674;675	ENSP00000334146:V674I;ENSP00000405218:V675I	ENSP00000334146:V674I	V	-	1	0	ZNF347	58335873	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.544000	0.06077	-0.760000	0.04677	-0.290000	0.09829	GTT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	636	0	0	0	1	0	7	636					T	53644061	C	T	53644061	3	4	2	1	0	0	0	0	1	0	0	0	17914	565	20	2	503	2	ZNF347	19	53644061	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	3182014	53644061	5484922	91	241	5	2									
ZNF347	84671	broad.mit.edu	37	chr19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C													tttacctccagtatgaactcTccgatgtcttgcaaggtgtg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161	146	151					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	655	0	0	0	1	0	8	655					C	53644064	T	C	53644064	3	2	2	1	0	0	0	0	1	0	0	0	17914	1559	54	4	506	4	ZNF347	19	53644064	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	3	53644064	5484919	92	242	5	2									
TGM3	7053	broad.mit.edu	37	chr20	2290352	2290352	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggccttcaaccgacaagcGcatcacacagacaagttctc	7	15	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:2290352G>T	ENST00000381458.5	+	2	120	c.57G>T	c.(55-57)gcG>gcT	p.A19A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	19					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCGACAAGCGCATCACACAG	0.517																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(55-57)gcG>gcT		transglutaminase 3	L-Glutamine(DB00130)						133	118	123					20																	2290352		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290352G>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.57G>T	20.37:g.2290352G>T							p.A19A	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			2	120	+			19					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.57G>T	CCDS33435.1																																																																																				0.517	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		72	475	1	0	1.1397e-45	1	1.22047e-45	72	475					T	2290352	G	T	2290352	2	4	2	1	0	0	0	0	0	0	0	1	15883	1074	38	3		3	TGM3	20	2290352	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		2290352	60735168	93	243											
RPRD1B	58490	broad.mit.edu	37	chr20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaggatctggaaaatgCcgcatcaggggatgctactg	13	8	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(568-570)gCc>gTc		regulation of nuclear pre-mRNA domain containing 1B							108	101	103					20																	36687836		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36687836C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.569C>T	20.37:g.36687836C>T	ENSP00000362532:p.Ala190Val						p.A190V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			5	971	+			190					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.569C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		0.413	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		5	334	0	0	0	1	0	5	334					T	36687836	C	T	36687836	3	4	2	1	0	0	0	0	1	0	0	0	13666	739	26	2	587	2	RPRD1B	20	36687836	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	34397484	36687836	26337684	94	244											
ABCG1	9619	broad.mit.edu	37	chr21	43706012	43706012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtcctgagtcaaggacAatgtgtgtaccggggaaaag	13	7	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr21:43706012A>G	ENST00000361802.2	+	8	1026	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000398437.1_Missense_Mutation_p.Q440R|ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	294	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCAAGGACAATGTGTGTAC	0.493																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1318-1320)cAa>cGa		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						235	238	237					21																	43706012		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43706012A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.881A>G	21.37:g.43706012A>G	ENSP00000354995:p.Gln294Arg					ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000361802.2_Missense_Mutation_p.Q294R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R	p.Q440R			P45844	ABCG1_HUMAN			9	1467	+			294			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1319A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296969	0.60086	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.04	4.04	0.47022	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	N	0.00841	-1.15	0.80722	D	1	B;B;D;B;B;D	0.67145	0.11;0.02;0.996;0.057;0.049;0.981	B;B;P;B;B;D	0.67900	0.074;0.032;0.889;0.032;0.061;0.954	T	0.44787	-0.9305	9	.	.	.	-14.5189	13.2943	0.60288	1.0:0.0:0.0:0.0	.	305;305;294;294;291;296	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	R	296;291;294;294;305;440;402	ENSP00000381475:Q296R;ENSP00000291524:Q291R;ENSP00000381467:Q294R;ENSP00000354995:Q294R;ENSP00000339744:Q305R;ENSP00000381464:Q440R;ENSP00000343820:Q402R	.	Q	+	2	0	ABCG1	42579081	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.449000	0.90337	1.581000	0.49865	0.482000	0.46254	CAA		0.493	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		113	795	0	0	0	1	0	113	795					G	43706012	A	G	43706012	3	3	2	1	0	0	0	0	1	0	0	0	68	130	5	4	1079	4	ABCG1	21	43706012	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08		43706012	4423883	95	245											
GK	2710	broad.mit.edu	37	chrX	30718984	30718984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtctgctgcattggtGggacaaatgtgcttccagat	12	9	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:30718984G>A	ENST00000378943.3	+	10	974	c.795G>A	c.(793-795)gtG>gtA	p.V265V	GK_ENST00000427190.1_Silent_p.V66V|GK_ENST00000378945.3_Silent_p.V265V|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Silent_p.V271V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	271					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CTGCATTGGTGGGACAAATGT	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(793-795)gtG>gtA		glycerol kinase							91	85	87					X																	30718984		2202	4300	6502	SO:0001819	synonymous_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30718984G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.795G>A	X.37:g.30718984G>A						RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.V66V|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Silent_p.V265V|GK_ENST00000378946.3_Silent_p.V271V	p.V265V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			10	974	+			271					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378943.3	37	c.795G>A	CCDS48090.1																																																																																				0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		58	126	0	0	0	1	0	58	126					A	30718984	G	A	30718984	2	1	2	1	0	0	0	0	0	0	0	1	6449	1335	47	2		2	GK	23	30718984	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		30718984	124551576	96	246											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	49						7	49	---	---	---	---	-	47030563	GGA	-	47030561	7	5	2	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-2J-AAB4-01A-12D-A40W-08	16311577	47030561	108239999	97	247											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	200	0	0	0	1	0	5	200					C	73811938	G	C	73811938	2	2	2	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	26781377	73811938	81458622	98	248											
ATRX	546	broad.mit.edu	37	chrX	76949326	76949326	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttacctccgcgttttttGagattttcagttttcatttt	5	7	2	1	rs398123424		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:76949326G>T	ENST00000373344.5	-	6	685	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(469-471)ctC>ctA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151	132	138					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76949326G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>A	X.37:g.76949326G>T						ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Silent_p.L118L	p.L157L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			6	685	-			157					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.471C>A	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	139	1	0	5.03518e-11	1	5.30841e-11	12	139					T	76949326	G	T	76949326	2	4	2	1	0	0	0	0	0	0	0	1	1209	1277	45	3		3	ATRX	23	76949326	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	3137388	76949326	78321234	99	249											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-													ctgacaatcttacctcatcaTtttttttgttattggattca							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221	189	200					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		7	493						7	493	---	---	---	---	-	142605149	T	-	142605149	7	5	2	1	0	1	0	1	0	0	0	0	15044	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-2J-AAB4-01A-12D-A40W-08	65655823	142605149	12665411	100	250											
CXorf1	9142	broad.mit.edu	37	chrX	144909364	144909364	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaccatattttattttAggatttttatttttatcttc	3	5	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:144909364A>C	ENST00000408967.2	+	1	437	c.169A>C	c.(169-171)Agg>Cgg	p.R57R		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	57						integral component of membrane (GO:0016021)											ATTTTATTTTAGGATTTTTAT	0.328																																						ENST00000408967.2																			0											c.(169-171)Agg>Cgg		transmembrane protein 257							82	82	82					X																	144909364		2203	4300	6503	SO:0001819	synonymous_variant	9142							g.chrX:144909364A>C	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.169A>C	X.37:g.144909364A>C							p.R57R	NM_004709.2	NP_004700.1					1	437	+								Q14CW0	Silent	SNP	ENST00000408967.2	37	c.169A>C	CCDS14681.1																																																																																				0.328	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		76	105	0	0	0	1	0	76	105					C	144909364	A	C	144909364	2	2	2	1	0	0	0	0	0	0	0	1	4111	411	15	4		4	CXorf1	23	144909364	Silent	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	2304215	144909364	10361196	101	251											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		8	646						8	646	---	---	---	---	-	149937528	GGC	-	149937526	7	5	2	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-2J-AAB4-01A-12D-A40W-08	5028162	149937526	5333034	102	252											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	223	0	0	0	1	0	7	223					A	150156360	G	A	150156360	2	1	2	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	218834	150156360	5114200	103	253											
WDR8	49856	broad.mit.edu	37	chr1	3549997	3549998	+	Frame_Shift_Ins	INS	-	-	C													cgggagagggccggccccggINScccggggcggcgggaaggag							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:3549997_3549998insC	ENST00000270708.7	-	9	959_960	c.886_887insG	c.(886-888)gccfs	p.A296fs	WRAP73_ENST00000378322.3_Frame_Shift_Ins_p.A296fs	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	296						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						gccggccccggcccggggcggc	0.569																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(886-888)cggfs		WD repeat containing, antisense to TP73																																				SO:0001589	frameshift_variant	49856					centrosome	protein binding	g.chr1:3549997_3549998insC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.887dupG	1.37:g.3550000_3550000dupC	ENSP00000270708:p.Ala296fs					WRAP73_ENST00000270708.7_Frame_Shift_Ins_p.R296fs	p.R296fs			Q9P2S5	WRP73_HUMAN			9	944_945	-			296					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Frame_Shift_Ins	INS	ENST00000270708.7	37	c.886_887insG	CCDS48.1																																																																																				0.569	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			8	256						8	256	---	---	---	---	C	3549998	-	C	3549997	7	5	3	1	0	1	1	0	0	0	0	0	17383	1203	42	0	511	0	WDR8	1	3549997	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08		3549997	245700624	1	254											
AJAP1	55966	broad.mit.edu	37	chr1	4772146	4772146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaggagtggacagccagcGcgggtcccggccccggtgtg	17	12	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771																																						ENST00000378191.4																			1	Substitution - coding silent(1)	p.A72A(1)	urinary_tract(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(214-216)gcG>gcA		adherens junctions associated protein 1							9	13	12					1																	4772146		1651	3572	5223	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772146G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.216G>A	1.37:g.4772146G>A						AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.A72A	p.A72A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	597	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	72					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.216G>A	CCDS54.1																																																																																				0.771	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		32	78	0	0	0	1	0	32	78					A	4772146	G	A	4772146	2	1	3	1	0	0	0	0	0	0	0	1	438	1074	38	1		1	AJAP1	1	4772146	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	1222149	4772146	244478475	2	255											
GPR153	387509	broad.mit.edu	37	chr1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcagagaggttttggCgggctccgagccatcgatgg	17	9	1	1	rs189356842		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.0					ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(706-708)Gcc>Acc		G protein-coupled receptor 153							77	79	79					1																	6313858		2201	4300	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313858C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.706G>A	1.37:g.6313858C>T	ENSP00000367125:p.Ala236Thr						p.A236T	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	965	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	236					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.706G>A	CCDS64.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.87	2.067016	0.36470	.	.	ENSG00000158292	ENST00000377893	T	0.71934	-0.61	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.373744	0.28914	N	0.013730	T	0.56949	0.2020	N	0.19112	0.55	0.29397	N	0.86221	D	0.54772	0.968	P	0.47346	0.544	T	0.53753	-0.8394	10	0.28530	T	0.3	-50.623	9.4756	0.38869	0.0:0.8127:0.0:0.1873	.	236	Q6NV75	GP153_HUMAN	T	236	ENSP00000367125:A236T	ENSP00000367125:A236T	A	-	1	0	GPR153	6236445	0.042000	0.20092	0.950000	0.38849	0.814000	0.46013	0.331000	0.19733	2.277000	0.76020	0.462000	0.41574	GCC		0.677	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			6	201	0	0	0	1	0	6	201					T	6313858	C	T	6313858	3	4	3	1	0	0	0	0	1	0	0	0	6688	768	27	1	1139	1	GPR153	1	6313858	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1541712	6313858	242936763	3	256											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	392						7	392	---	---	---	---	-	44447009	AGC	-	44447007	7	5	3	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-2J-AAB6-01A-11D-A40W-08	38133149	44447007	204803614	4	257											
TCHH	7062	broad.mit.edu	37	chr1	152082606	152082606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcagctgctcttcTtcctgctgcagctcgtcttt	7	15	5	0	rs201965717		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				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						c.(3085-3087)gaA>gaG		trichohyalin							111	113	112					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>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.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	1098	0	0	0	1	0	8	1098					C	152082606	T	C	152082606	2	2	3	1	0	0	0	0	0	0	0	1	15752	1606	56	4		4	TCHH	1	152082606	Silent	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	107635599	152082606	97168015	5	258											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	12	11	4	1	rs201025925		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		10	2346	0	0	0	1	0	10	2346					T	152128689	C	T	152128689	3	4	3	1	0	0	0	0	1	0	0	0	13714	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	46083	152128689	97121932	6	259											
LCE2C	353140	broad.mit.edu	37	chr1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtttccctgcagtctcttCttgctgtggtcccagctctg	9	13	3	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	46	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(136-138)tCt>tAt		late cornified envelope 2C							123	131	129					1																	152648628		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648628C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.137C>A	1.37:g.152648628C>A	ENSP00000357772:p.Ser46Tyr					LCE2B_ENST00000417924.2_Intron	p.S46Y	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	192	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.137C>A	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571575	0.03882	.	.	ENSG00000187180	ENST00000368783	T	0.06218	3.33	3.39	0.0799	0.14418	.	.	.	.	.	T	0.02727	0.0082	M	0.79805	2.47	0.09310	N	1	P	0.47910	0.902	B	0.35413	0.202	T	0.33523	-0.9865	9	0.87932	D	0	.	5.4015	0.16299	0.0:0.4654:0.4079:0.1267	.	46	Q5TA81	LCE2C_HUMAN	Y	46	ENSP00000357772:S46Y	ENSP00000357772:S46Y	S	+	2	0	LCE2C	150915252	0.023000	0.18921	0.264000	0.24511	0.299000	0.27559	0.291000	0.18994	-0.081000	0.12662	0.563000	0.77884	TCT		0.627	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		190	857	1	0	7.09894e-72	1	7.57752e-72	190	857					A	152648628	C	A	152648628	3	1	3	1	0	0	0	0	1	0	0	0	8698	913	32	3	139	3	LCE2C	1	152648628	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	519939	152648628	96601993	7	260											
SPRR3	6707	broad.mit.edu	37	chr1	152975691	152975691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaggtccctgagccaggCtgtaccaaggtccctgagcc	11	15	0	2	rs201771127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152975691C>T	ENST00000295367.4	+	2	237	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000331860.3_Silent_p.G65G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(193-195)ggC>ggT		small proline-rich protein 3							51	45	47					1																	152975691		2203	4299	6502	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975691C>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.195C>T	1.37:g.152975691C>T						SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000295367.4_Silent_p.G65G	p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	345	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65	Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).		14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.195C>T	CCDS1033.1																																																																																				0.557	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		7	273	0	0	0	1	0	7	273					T	152975691	C	T	152975691	2	4	3	1	0	0	0	0	0	0	0	1	15155	784	28	2		2	SPRR3	1	152975691	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	327063	152975691	96274930	8	261											
TNR	7143	broad.mit.edu	37	chr1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggccgtcggctggTaagagatcacatattccgtc	11	14	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R	359	Fibronectin type-III 1. {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)				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)					CGTCGGCTGGTAAGAGATCAC	0.617																																						ENST00000367674.1																			0				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						c.(1075-1077)tAc>tTc		tenascin R							74	75	75					1																	175365844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365844T>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.1076A>T	1.37:g.175365844T>A	ENSP00000356646:p.Tyr359Phe					TNR_ENST00000263525.2_Missense_Mutation_p.Y359F	p.Y359F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1784	-	Renal(580;0.146)		359			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1076A>T	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.010028|5.010028	0.93346|0.93346	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.61859	.|0.07;0.07	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.067516	.|0.64402	.|D	.|0.000009	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.72779|0.72779	-0.4190|-0.4190	5|10	.|0.51188	.|T	.|0.08	.|.	16.0892|16.0892	0.81080|0.81080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|359	.|Q92752	.|TENR_HUMAN	F|F	83|359	.|ENSP00000356646:Y359F;ENSP00000263525:Y359F	.|ENSP00000263525:Y359F	L|Y	-|-	3|2	2|0	TNR|TNR	173632467|173632467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.774000|3.774000	0.55341|0.55341	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		96	384	0	0	0	1	0	96	384					A	175365844	T	A	175365844	3	1	3	1	0	0	0	0	1	0	0	0	16390	1638	57	5	3076	5	TNR	1	175365844	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	22390153	175365844	73884777	9	262											
NPHS2	7827	broad.mit.edu	37	chr1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agggcctttggctcttccagGaagcagatgtcccagtcgga	13	11	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	144					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCTTCCAGGAAGCAGATGT	0.373																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(430-432)Cct>Act		nephrosis 2, idiopathic, steroid-resistant (podocin)							142	160	154					1																	179530445		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179530445G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.430C>A	1.37:g.179530445G>T	ENSP00000356587:p.Pro144Thr					NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			3	498	-			144					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.430C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794586	0.50102	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99607	-6.27;-6.27	5.82	5.82	0.92795	.	0.210004	0.44097	D	0.000495	D	0.99140	0.9703	L	0.43923	1.385	0.38352	D	0.944353	D;D	0.59767	0.986;0.985	P;P	0.60886	0.88;0.844	D	0.98710	1.0704	10	0.54805	T	0.06	-18.3363	12.0534	0.53520	0.0787:0.0:0.9213:0.0	.	144;144	Q9NP85-2;Q9NP85	.;PODO_HUMAN	T	144	ENSP00000356587:P144T;ENSP00000356588:P144T	ENSP00000356587:P144T	P	-	1	0	NPHS2	177797068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.765000	0.95021	0.650000	0.86243	CCT		0.373	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			364	538	1	0	1.84265e-150	1	1.97799e-150	364	538					T	179530445	G	T	179530445	3	4	3	1	0	0	0	0	1	0	0	0	10625	1174	41	3	745	3	NPHS2	1	179530445	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	4164601	179530445	69720176	10	263											
ASPM	259266	broad.mit.edu	37	chr1	197112823	197112823	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtgggctcctaactcTgtcaactttttgggaaacac	9	9	2	0	rs201333656		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	187					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTAACTCTGTCAACTTTT	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(559-561)Aga>Cga		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							53	56	55					1																	197112823		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112823T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.559A>C	1.37:g.197112823T>G						ASPM_ENST00000294732.7_Silent_p.R187R	p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	815	-			187					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.559A>C	CCDS1389.1																																																																																				0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		160	241	0	0	0	1	0	160	241					G	197112823	T	G	197112823	2	3	3	1	0	0	0	0	0	0	0	1	1057	1588	55	4		4	ASPM	1	197112823	Silent	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	17582378	197112823	52137798	11	264											
MIA3	375056	broad.mit.edu	37	chr1	222838734	222838735	+	Frame_Shift_Ins	INS	-	-	G													ggacctgcctctccaccctcINSggggatttttacctggacac							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:222838734_222838735insG	ENST00000344922.5	+	28	5522_5523	c.5497_5498insG	c.(5497-5499)cggfs	p.R1833fs	MIA3_ENST00000344441.6_Frame_Shift_Ins_p.R1833fs|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.R711fs|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1833	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1833L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTCCACCCTCGGGGATTTTTA	0.515																																						ENST00000344922.5																			1	Substitution - Missense(1)	p.R1833L(1)	lung(1)	breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5497-5499)gggfs		melanoma inhibitory activity family, member 3																																				SO:0001589	frameshift_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838734_222838735insG		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5501dupG	1.37:g.222838738_222838738dupG	ENSP00000340900:p.Arg1833fs					MIA3_ENST00000344441.6_Frame_Shift_Ins_p.G1833fs|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.G711fs|MIA3_ENST00000344507.1_Intron	p.G1833fs	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5522_5523	+			1833			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Ins	INS	ENST00000344922.5	37	c.5497_5498insG	CCDS41470.1																																																																																				0.515	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		7	1516						7	1516	---	---	---	---	G	222838735	-	G	222838734	7	5	3	1	0	1	1	0	0	0	0	0	9606	875	31	0	5607	0	MIA3	1	222838734	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08	25725911	222838734	26411887	12	265											
OR14A16	284532	broad.mit.edu	37	chr1	247978702	247978702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaccgtgaggaggagCagctctgcagatgctgaaga	14	9	2	4			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGGAGGAGCAGCTCTGCAG	0.468																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(328-330)ctG>ctT		olfactory receptor, family 14, subfamily A, member 16							108	102	104					1																	247978702		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978702C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.330G>T	1.37:g.247978702C>A							p.L110L	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	329	-			110					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.330G>T	CCDS31097.1																																																																																				0.468	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		69	300	1	0	4.83814e-26	1	5.10692e-26	69	300					A	247978702	C	A	247978702	2	1	3	1	0	0	0	0	0	0	0	1	10987	697	25	3		3	OR14A16	1	247978702	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	25139968	247978702	1271919	13	266											
OR2L8	391190	broad.mit.edu	37	chr1	248112943	248112943	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctacacttatctacgtccaAgatccctgcgatctccaaca	4	15	3	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACGTCCAAGATCCCTGCG	0.483																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(784-786)Aga>Cga		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							120	91	101					1																	248112943		2203	4297	6500	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112943A>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.784A>C	1.37:g.248112943A>C						OR2L13_ENST00000366478.2_Intron	p.R262R	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	784	+	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)		262					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.784A>C	CCDS31101.1																																																																																				0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			81	291	0	0	0	1	0	81	291					C	248112943	A	C	248112943	2	2	3	1	0	0	0	0	0	0	0	1	11051	64	3	4		4	OR2L8	1	248112943	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	134241	248112943	1137678	14	267											
OR2L2	26246	broad.mit.edu	37	chr1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacgtccaagatccctgCgatctccaacagaggacaag	9	12	1	2	rs546778867		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0					ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(793-795)Cga>Tga		olfactory receptor, family 2, subfamily L, member 2							138	125	130					1																	248202362		2203	4300	6503	SO:0001587	stop_gained	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202362C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.793C>T	1.37:g.248202362C>T	ENSP00000355435:p.Arg265*					OR2L13_ENST00000366478.2_Intron	p.R265*	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	889	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265					Q2M3T5	Nonsense_Mutation	SNP	ENST00000366479.2	37	c.793C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.067941	0.55539	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	0.911	0.19343	.	0.000000	0.27636	U	0.018492	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	3.04	0.06135	0.243:0.5305:0.0:0.2264	.	.	.	.	X	265	.	ENSP00000355435:R265X	R	+	1	2	OR2L2	246268985	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.234000	0.01203	0.005000	0.14708	0.194000	0.17425	CGA		0.498	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		91	336	0	0	0	1	0	91	336					T	248202362	C	T	248202362	4	4	3	1	0	0	0	0	0	1	0	0	11049	760	27	1	795	1	OR2L2	1	248202362	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	89419	248202362	1048259	15	268											
OR2T6	254879	broad.mit.edu	37	chr1	248551551	248551551	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatccccttctcggtggtGactgcatcctacaccaggat	9	14	1	2	rs373005006		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			TCTCGGTGGTGACTGCATCCT	0.537																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(640-642)gtG>gtC		olfactory receptor, family 2, subfamily T, member 6							303	230	255					1																	248551551		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551551G>C	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.642G>C	1.37:g.248551551G>C							p.V214V	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	642	+	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)		214					A6NE36	Silent	SNP	ENST00000355728.2	37	c.642G>C	CCDS31114.1																																																																																				0.537	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		11	337	0	0	0	1	0	11	337					C	248551551	G	C	248551551	2	2	3	1	0	0	0	0	0	0	0	1	11071	1277	45	5		5	OR2T6	1	248551551	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	349189	248551551	699070	16	269											
MYT1L	23040	broad.mit.edu	37	chr2	1893097	1893097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccagcagtcgccctcGcccagctggaaacaccggtt	10	16	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	812					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTCGCCCTCGCCCAGCTGGA	0.582																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2434-2436)ggC>ggT		myelin transcription factor 1-like							71	77	75					2																	1893097		2041	4156	6197	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893097G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2436C>T	2.37:g.1893097G>A						MYT1L_ENST00000428368.2_Silent_p.G810G	p.G812G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3183	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	812					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2436C>T																																																																																					0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		77	209	0	0	0	1	0	77	209					A	1893097	G	A	1893097	2	1	3	1	0	0	0	0	0	0	0	1	10148	1074	38	1		1	MYT1L	2	1893097	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		1893097	241306276	17	270											
KCNG3	170850	broad.mit.edu	37	chr2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaagctatggtagatAaaagtgataggtaatgccaa	10	5	0	2	rs373276662		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	407					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TATGGTAGATAAAAGTGATAG	0.398																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(1219-1221)ttT>ttA		potassium voltage-gated channel, subfamily G, member 3							128	126	127					2																	42671164		2203	4300	6503	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671164A>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.1221T>A	2.37:g.42671164A>T	ENSP00000304127:p.Phe407Leu					KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	p.F407L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			2	1816	-			407					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.1221T>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.943128	0.34283	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98207	-4.79;-4.79	5.2	-0.932	0.10435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	N	0.11698	0.16	0.47065	D	0.999303	D;D	0.63046	0.992;0.974	D;D	0.76071	0.987;0.969	D	0.94389	0.7612	10	0.66056	D	0.02	.	12.9539	0.58416	0.3285:0.0:0.6715:0.0	.	407;396	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	L	407;396	ENSP00000304127:F407L;ENSP00000378424:F396L	ENSP00000304127:F407L	F	-	3	2	KCNG3	42524668	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.574000	0.36482	-0.176000	0.10707	-0.400000	0.06385	TTT		0.398	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		133	283	0	0	0	1	0	133	283					T	42671164	A	T	42671164	3	4	3	1	0	0	0	0	1	0	0	0	8059	359	13	5	93	5	KCNG3	2	42671164	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	40778067	42671164	200528209	18	271											
FSHR	2492	broad.mit.edu	37	chr2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggaggcagaaatggcaaaGaaagaaatgggtgccatgca	15	5	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Missense(1)	p.F590L(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1768-1770)ttC>ttA		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						61	60	60					2																	49190190		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190190G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1770C>A	2.37:g.49190190G>T	ENSP00000384708:p.Phe590Leu					FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L	p.F590L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1889	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	590					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1770C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857498	0.32791	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.53561	1.675	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.15870	0.014;0.008;0.014	T	0.53429	-0.8440	9	.	.	.	.	8.786	0.34821	0.231:0.0:0.769:0.0	.	564;528;590	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	590;528;564;326	ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L	.	F	-	3	2	FSHR	49043694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	1.620000	0.50308	0.655000	0.94253	TTC		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			33	103	1	0	1.30897e-18	1	1.36651e-18	33	103					T	49190190	G	T	49190190	3	4	3	1	0	0	0	0	1	0	0	0	6100	933	33	3	321	3	FSHR	2	49190190	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	6519026	49190190	194009183	19	272											
GGCX	2677	broad.mit.edu	37	chr2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatacttgggaagcaggcGgctcaggcaagtggcatatt	13	7	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R396C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	453					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1357-1359)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						137	129	132					2																	85779621		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779621G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1357C>T	2.37:g.85779621G>A	ENSP00000233838:p.Arg453Cys		OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	p.R453C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			10	1437	-			453					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1357C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756141	0.69648	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92299	-3.01;-3.01	5.95	5.95	0.96441	.	0.567099	0.20201	N	0.097085	D	0.92120	0.7502	L	0.49778	1.585	0.34474	D	0.703168	D;P;D	0.61080	0.978;0.807;0.989	P;B;P	0.51453	0.606;0.417;0.67	D	0.94367	0.7592	10	0.54805	T	0.06	-1.5644	13.4692	0.61273	0.0:0.1567:0.8433:0.0	.	396;292;453	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	453;396	ENSP00000233838:R453C;ENSP00000408045:R396C	ENSP00000233838:R453C	R	-	1	0	GGCX	85633132	0.988000	0.35896	0.998000	0.56505	0.996000	0.88848	1.939000	0.40213	2.824000	0.97209	0.655000	0.94253	CGC		0.522	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		149	342	0	0	0	1	0	149	342					A	85779621	G	A	85779621	3	1	3	1	0	0	0	0	1	0	0	0	6385	1116	39	1	943	1	GGCX	2	85779621	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	36589431	85779621	157419752	20	273											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797606	131797606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagggtgaatcaggaCgagcccgcggatgacgacgc	16	11	1	3	rs551214782		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000326016.5	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000392953.3_Silent_p.D255D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.D184D	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	255					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGAATCAGGACGAGCCCGCGG	0.731																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(763-765)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 4							26	28	28					2																	131797606		2166	4258	6424	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797606C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.765C>T	2.37:g.131797606C>T						ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000428230.2_Intron	p.D255D	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1284	+		Prostate(154;0.055)	255					Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.765C>T	CCDS2165.1																																																																																				0.731	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			3	15	0	0	0	1	0	3	15					T	131797606	C	T	131797606	2	4	3	1	0	0	0	0	0	0	0	1	908	535	19	1		1	ARHGEF4	2	131797606	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	46017985	131797606	111401767	21	274											
POTEE	445582	broad.mit.edu	37	chr2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaaccccaaggccaacCgcgagaagatgacccagatc	9	16	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	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.R816C(1)									CAAGGCCAACCGCGAGAAGAT	0.612																																						ENST00000356920.5																			1	Substitution - Missense(1)	p.R816C(1)	endometrium(1)								c.(2446-2448)Cgc>Tgc		POTE ankyrin domain family, member E							76	79	78					2																	132021474		2132	4201	6333	SO:0001583	missense	445582						ATP binding	g.chr2:132021474C>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.2446C>T	2.37:g.132021474C>T	ENSP00000439189:p.Arg816Cys					POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.R816C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2540	+			816			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2446C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259391	0.39995	.	.	ENSG00000188219	ENST00000356920	D	0.97114	-4.25	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98988	0.9655	H	0.99954	5.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95089	0.8220	8	0.87932	D	0	.	2.8768	0.05634	0.4949:0.5045:2.0E-4:3.0E-4	.	816	Q6S8J3	POTEE_HUMAN	C	816	ENSP00000439189:R816C	ENSP00000439189:R816C	R	+	1	0	AC131180.1	131737944	1.000000	0.71417	0.221000	0.23827	0.224000	0.24922	3.183000	0.50918	0.119000	0.18210	0.121000	0.15741	CGC		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		115	390	0	0	0	1	0	115	390					T	132021474	C	T	132021474	3	4	3	1	0	0	0	0	1	0	0	0	12306	652	23	1	2504	1	POTEE	2	132021474	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	223868	132021474	111177899	22	275											
TTN	7273	broad.mit.edu	37	chr2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggctactgttttgctacCggctgcattggaaactgtga	11	9	0	1	rs375009570		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000591111.1	-	254	55773	c.55549G>A	c.(55549-55551)Ggt>Agt	p.G18517S	TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN_ENST00000589042.1_Missense_Mutation_p.G20158S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18517	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTGCTACCGGCTGCATTG	0.418																																						ENST00000589042.1																			0				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						c.(60472-60474)Ggt>Agt		titin							230	235	233					2																	179455980		1910	4131	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455980C>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.55549G>A	2.37:g.179455980C>T	ENSP00000465570:p.Gly18517Ser					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S	p.G20158S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60696	-			18517			Fibronectin type-III 46.		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.60472G>A		.	.	.	.	.	.	.	.	.	.	C	14.91	2.675466	0.47781	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89729	0.6799	M	0.90369	3.11	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	0.90351	0.4366	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11093;11218;11285;18517	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17590;11093;11285;11218;11091	ENSP00000343764:G17590S;ENSP00000434586:G11093S;ENSP00000340554:G11285S;ENSP00000352154:G11218S	ENSP00000340554:G11285S	G	-	1	0	TTN	179164226	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		201	593	0	0	0	1	0	201	593					T	179455980	C	T	179455980	3	4	3	1	0	0	0	0	1	0	0	0	16789	652	23	1	47743	1	TTN	2	179455980	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	47434506	179455980	63743393	23	276											
SESTD1	91404	broad.mit.edu	37	chr2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttatcacttccattgttaatCaaagcaagttcatctaataa	3	8	4	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	179							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTGTTAATCAAAGCAAGTT	0.294																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(535-537)ttG>ttC		SEC14 and spectrin domains 1							90	79	83					2																	180014068		2201	4297	6498	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180014068C>G	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.537G>C	2.37:g.180014068C>G	ENSP00000415332:p.Leu179Phe						p.L179F	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	853	-			179					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.537G>C	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269212	0.23221	.	.	ENSG00000187231	ENST00000428443	T	0.05258	3.47	5.45	3.65	0.41850	.	0.133962	0.48286	D	0.000189	T	0.02610	0.0079	N	0.08118	0	0.47123	D	0.999326	B	0.29085	0.232	B	0.27170	0.077	T	0.50988	-0.8762	9	.	.	.	-11.3706	3.1066	0.06344	0.1961:0.5273:0.0:0.2766	.	179	Q86VW0	SESD1_HUMAN	F	179	ENSP00000415332:L179F	.	L	-	3	2	SESTD1	179722313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.934000	0.28910	1.296000	0.44742	0.655000	0.94253	TTG		0.294	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		19	87	0	0	0	1	0	19	87					G	180014068	C	G	180014068	3	3	3	1	0	0	0	0	1	0	0	0	14177	825	29	5	1601	5	SESTD1	2	180014068	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	558088	180014068	63185305	24	277											
MAP2	4133	broad.mit.edu	37	chr2	210574822	210574822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtctgccatcttggtgccGagtgagaagaaggtcgccat	13	9	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000447185.1_Silent_p.P1635P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1639					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCTTGGTGCCGAGTGAGAAGA	0.542																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4915-4917)ccG>ccA		microtubule-associated protein 2	Estramustine(DB01196)						111	101	104					2																	210574822		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574822G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4917G>A	2.37:g.210574822G>A						MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P	p.P1639P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5423	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1639					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4917G>A	CCDS2384.1																																																																																				0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	264	0	0	0	1	0	5	264					A	210574822	G	A	210574822	2	1	3	1	0	0	0	0	0	0	0	1	9276	1045	37	1		1	MAP2	2	210574822	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	30560754	210574822	32624551	25	278											
TMEM198	130612	broad.mit.edu	37	chr2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggactgtggcaacactgCggttccagctgctgccccct	13	15	0	0	rs201245165		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W|CHPF_ENST00000243776.6_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000373891.2_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	9					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAACACTGCGGTTCCAGCT	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(25-27)Cgg>Tgg		transmembrane protein 198							97	89	92					2																	220409474		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409474C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.25C>T	2.37:g.220409474C>T	ENSP00000343507:p.Arg9Trp					TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W	p.R9W			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	610	+		Renal(207;0.0376)	9						Missense_Mutation	SNP	ENST00000344458.2	37	c.25C>T	CCDS33385.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.17	3.776201	0.70107	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.94	3.94	0.45596	.	0.562550	0.17727	N	0.164020	T	0.39911	0.1096	N	0.08118	0	0.39157	D	0.962335	B	0.12013	0.005	B	0.01281	0.0	T	0.42899	-0.9424	9	0.66056	D	0.02	-9.0173	16.1416	0.81528	0.0:1.0:0.0:0.0	.	9	Q66K66	TM198_HUMAN	W	9	.	ENSP00000343507:R9W	R	+	1	2	TMEM198	220117718	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.182000	0.42556	2.226000	0.72624	0.555000	0.69702	CGG		0.617	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		57	197	0	0	0	1	0	57	197					T	220409474	C	T	220409474	3	4	3	1	0	0	0	0	1	0	0	0	16171	759	27	1	27	1	TMEM198	2	220409474	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	9834652	220409474	22789899	26	279											
SP140	11262	broad.mit.edu	37	chr2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgtgatggagaagagCgccaggaagcctctagctcc	13	9	1	3	rs201685101		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000420434.3_Intron|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	401					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1201-1203)Cgc>Tgc		SP140 nuclear body protein							100	94	96					2																	231120208		1909	4105	6014	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231120208C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1201C>T	2.37:g.231120208C>T	ENSP00000375899:p.Arg401Cys					SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.R270C	p.R401C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	12	1315	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	401					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1201C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	c	9.688	1.151170	0.21371	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000343805	T;T;T;T	0.60040	0.56;0.86;0.62;0.22	2.9	-1.08	0.09936	.	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	P;D;P	0.56968	0.688;0.978;0.561	B;B;B	0.37422	0.188;0.249;0.063	T	0.24190	-1.0167	9	0.66056	D	0.02	3.0597	3.4175	0.07381	0.0:0.4239:0.2039:0.3723	.	341;401;367	E9PFJ6;Q13342;E7EX75	.;LY10_HUMAN;.	C	325;367;270;401;341	ENSP00000440107:R325C;ENSP00000345846:R270C;ENSP00000375899:R401C;ENSP00000342096:R341C	ENSP00000342096:R341C	R	+	1	0	SP140	230828452	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.367000	0.20382	-0.283000	0.09115	-0.283000	0.09986	CGC		0.527	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		57	204	0	0	0	1	0	57	204					T	231120208	C	T	231120208	3	4	3	1	0	0	0	0	1	0	0	0	15012	768	27	1	1364	1	SP140	2	231120208	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	10710734	231120208	12079165	27	280											
KIF1A	547	broad.mit.edu	37	chr2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctaagggtctcatcgTagttgatgtctgcaggactc	13	9	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000320389.7	-	12	1171	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000498729.2_Missense_Mutation_p.Y338C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCATCGTAGTTGATGTC	0.572																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1012-1014)tAc>tGc		kinesin family member 1A							76	83	81					2																	241713624		2159	4257	6416	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713624T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1013A>G	2.37:g.241713624T>C	ENSP00000322791:p.Tyr338Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C	p.Y338C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1259	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	338			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1013A>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413213	0.62511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-1.0;-1.0;-1.0	4.33	4.33	0.51752	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.87406	0.6169	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.89725	0.3922	10	0.87932	D	0	.	13.1872	0.59688	0.0:0.0:0.0:1.0	.	338;338;338	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	338	ENSP00000322791:Y338C;ENSP00000438388:Y338C;ENSP00000384231:Y338C	ENSP00000322791:Y338C	Y	-	2	0	KIF1A	241362297	1.000000	0.71417	0.952000	0.39060	0.601000	0.36947	7.764000	0.85297	1.593000	0.50029	0.374000	0.22700	TAC		0.572	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		52	136	0	0	0	1	0	52	136					C	241713624	T	C	241713624	3	2	3	1	0	0	0	0	1	0	0	0	8313	1638	57	4	4203	4	KIF1A	2	241713624	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	10593416	241713624	1485749	28	281											
NUP210	23225	broad.mit.edu	37	chr3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcaagatcccggggcGtgcagacagtgtggtaggct	16	10	0	2	rs184792881	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1833					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCCGGGGCGTGCAGACAGT	0.637													G|||	3	0.000599042	0.0	0.0	5008	,	,		18218	0.003		0.0	False		,,,				2504	0.0					ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5497-5499)aCg>aTg		nucleoporin 210kDa							73	73	73					3																	13360637		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13360637G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5498C>T	3.37:g.13360637G>A	ENSP00000254508:p.Thr1833Met						p.T1833M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			39	5580	-	all_neural(104;0.187)		1833					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5498C>T	CCDS33704.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.41	2.826752	0.50739	.	.	ENSG00000132182	ENST00000254508	T	0.05081	3.5	5.45	4.56	0.56223	.	1.369470	0.04485	N	0.378425	T	0.10078	0.0247	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.50591	-0.8810	10	0.46703	T	0.11	-0.0018	14.191	0.65637	0.0:0.1496:0.8504:0.0	.	1833	Q8TEM1	PO210_HUMAN	M	1833	ENSP00000254508:T1833M	ENSP00000254508:T1833M	T	-	2	0	NUP210	13335637	0.493000	0.26035	0.003000	0.11579	0.045000	0.14185	4.575000	0.60908	1.288000	0.44600	0.561000	0.74099	ACG		0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		19	72	0	0	0	1	0	19	72					A	13360637	G	A	13360637	3	1	3	1	0	0	0	0	1	0	0	0	10802	1145	40	1	173	1	NUP210	3	13360637	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		13360637	184661793	29	282											
SCN5A	6331	broad.mit.edu	37	chr3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaaggaaagtgaacgCgtgcaggcagaagcctcgag	15	10	0	2	rs192113333		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000333535.4	-	5	702	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	185					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGTGAACGCGTGCAGGCAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21080	0.0		0.001	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM044054	SCN5A	M	rs192113333	c.(553-555)Gcg>Acg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						54	61	59					3																	38662392		1985	4185	6170	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38662392C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.553G>A	3.37:g.38662392C>T	ENSP00000328968:p.Ala185Thr					SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T	p.A185T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	746	-	Medulloblastoma(35;0.163)		185					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.553G>A	CCDS46796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.26	2.182805	0.38511	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.13	4.13	0.48395	Ion transport (1);	0.272885	0.36893	N	0.002355	D	0.94568	0.8250	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P	0.50710	0.898;0.936;0.898;0.873;0.938;0.846	B;B;B;B;B;B	0.40165	0.249;0.321;0.249;0.255;0.299;0.079	D	0.90051	0.4149	10	0.44086	T	0.13	.	12.7806	0.57474	0.0:0.835:0.165:0.0	.	185;185;185;185;185;185	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	185	ENSP00000398962:A185T;ENSP00000398266:A185T;ENSP00000410257:A185T;ENSP00000388797:A185T;ENSP00000397915:A185T;ENSP00000416634:A185T;ENSP00000328968:A185T;ENSP00000399524:A185T;ENSP00000403355:A185T;ENSP00000413996:A185T	ENSP00000328968:A185T	A	-	1	0	SCN5A	38637396	0.008000	0.16893	0.142000	0.22268	0.893000	0.52053	1.343000	0.33930	2.306000	0.77630	0.561000	0.74099	GCG		0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		22	83	0	0	0	1	0	22	83					T	38662392	C	T	38662392	3	4	3	1	0	0	0	0	1	0	0	0	13972	768	27	1	5689	1	SCN5A	3	38662392	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	25301755	38662392	159360038	30	283											
CDC25A	993	broad.mit.edu	37	chr3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacacacacggtaccttcaGattctctccatcgagaaggt	7	13	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	227					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGTACCTTCAGATTCTCTCCA	0.448																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(679-681)Ctg>Atg		cell division cycle 25A							184	178	180					3																	48219349		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48219349G>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.679C>A	3.37:g.48219349G>T	ENSP00000303706:p.Leu227Met					CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	p.L227M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	1087	-			227					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.679C>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834951	0.32421	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.36520	1.25;1.25;1.25	5.86	-1.61	0.08399	.	0.298652	0.32068	N	0.006637	T	0.25195	0.0612	L	0.40543	1.245	0.31540	N	0.660029	B;B	0.22746	0.074;0.053	B;B	0.36534	0.145;0.227	T	0.17228	-1.0376	10	0.37606	T	0.19	.	0.6643	0.00848	0.2883:0.1209:0.3425:0.2483	.	187;227	P30304-2;P30304	.;MPIP1_HUMAN	M	227;187;226	ENSP00000303706:L227M;ENSP00000343166:L187M;ENSP00000416483:L226M	ENSP00000303706:L227M	L	-	1	2	CDC25A	48194353	0.984000	0.35163	0.843000	0.33291	0.723000	0.41478	0.184000	0.16939	-0.685000	0.05177	-0.291000	0.09656	CTG		0.448	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		481	635	1	0	3.58181e-153	1	3.86673e-153	481	635					T	48219349	G	T	48219349	3	4	3	1	0	0	0	0	1	0	0	0	3071	933	33	3	931	3	CDC25A	3	48219349	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	9556957	48219349	149803081	31	284											
PXK	54899	broad.mit.edu	37	chr3	58385103	58385103	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcccggctcttacagatgCcgtaagtcaatcatatgcgt	8	12	4	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000356151.2	+	12	1289	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000463280.1_Splice_Site_p.P361A|PXK_ENST00000479241.1_Splice_Site_p.P377A|PXK_ENST00000383716.3_Splice_Site_p.P361A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e10+1		PX domain containing serine/threonine kinase							142	122	129					3																	58385103		2203	4300	6503	SO:0001630	splice_region_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58385103C>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1181+1C>G	3.37:g.58385103C>G						PXK_ENST00000356151.2_Splice_Site_p.P394_splice|PXK_ENST00000383716.3_Splice_Site_p.P361_splice|PXK_ENST00000302779.5_Splice_Site_p.P377_splice|PXK_ENST00000479241.1_Splice_Site_p.P377_splice|PXK_ENST00000536660.1_Splice_Site_p.P257_splice|PXK_ENST00000484288.1_Splice_Site_p.P394_splice|PXK_ENST00000383715.4_Splice_Site_p.P377_splice	p.P361_splice			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	10	1172	+			394			Protein kinase.			Splice_Site	SNP	ENST00000356151.2	37	c.1082_splice	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770248|4.770248	0.90108|0.90108	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.34667	.|2.12;2.11;2.12;1.4;1.39;1.4;1.35;2.12	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.998;0.989;1.0;0.997;1.0	.|D;D;P;D;D;D	.|0.79108	.|0.953;0.943;0.9;0.992;0.942;0.979	T|T	0.63497|0.63497	-0.6624|-0.6624	5|10	.|0.49607	.|T	.|0.09	-14.302|-14.302	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;361;361;394;377;394	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	W|A	148|394;377;361;361;377;394;377;257;257	.|ENSP00000348472:P394A;ENSP00000305045:P377A;ENSP00000373222:P361A;ENSP00000417903:P361A;ENSP00000373221:P377A;ENSP00000417915:P394A;ENSP00000419049:P377A;ENSP00000438356:P257A	.|ENSP00000305045:P377A	C|P	+|+	3|1	2|0	PXK|PXK	58360143|58360143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.715000|4.715000	0.61909|0.61909	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA		0.448	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	Missense_Mutation	46	180	0	0	0	1	0	46	180					G	58385103	C	G	58385103	5	3	3	1	0	0	0	0	0	0	1	0	12899	753	26	5	1226	5	PXK	3	58385103	Splice_Site	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	10165754	58385103	139637327	32	285											
STXBP5L	9515	broad.mit.edu	37	chr3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggaggagcttggaacCttggagcacaaacatatcca	11	9	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1363-1365)Ctt>Att		syntaxin binding protein 5-like							90	88	89					3																	120959317		1825	4080	5905	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120959317C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1363C>A	3.37:g.120959317C>A	ENSP00000273666:p.Leu455Ile					STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I	p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	14	1634	+			455					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1363C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416075	0.25552	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.63096	1.59;-0.02;0.56;0.56;-0.02;-0.02	5.21	0.825	0.18824	WD40 repeat-like-containing domain (2);	0.346259	0.27214	N	0.020399	T	0.52693	0.1750	L	0.55103	1.725	0.47737	D	0.999504	B;B	0.16603	0.018;0.01	B;B	0.19148	0.024;0.021	T	0.46978	-0.9152	10	0.37606	T	0.19	-8.1379	10.0091	0.41975	0.3776:0.554:0.0:0.0684	.	455;455	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	455	ENSP00000273666:L455I;ENSP00000420019:L455I;ENSP00000419627:L455I;ENSP00000420287:L455I;ENSP00000420666:L455I;ENSP00000420167:L455I	ENSP00000273666:L455I	L	+	1	0	STXBP5L	122442007	0.232000	0.23762	0.997000	0.53966	0.892000	0.51952	0.713000	0.25794	0.297000	0.22615	-0.397000	0.06425	CTT		0.323	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			6	300	1	0	0.0293803	1	0.0293803	6	300					A	120959317	C	A	120959317	3	1	3	1	0	0	0	0	1	0	0	0	15409	681	24	3	1413	3	STXBP5L	3	120959317	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	62574214	120959317	77063113	33	286											
TRH	7200	broad.mit.edu	37	chr3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcaccctggtcggcGggcagcctgggtcagagagc	18	13	1	1	rs199889071	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGTCGGCGGGCAGCCTGG	0.617													g|||	54	0.0107827	0.0	0.0	5008	,	,		13422	0.002		0.0	False		,,,				2504	0.0532				Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(694-696)cGg>cAg		thyrotropin-releasing hormone		G	GLN/ARG	1,4397		0,1,2198	20	21	21		695	3.5	0	3		21	1,8547		0,1,4273	yes	missense	TRH	NM_007117.3	43	0,2,6471	AA,AG,GG		0.0117,0.0227,0.0154	possibly-damaging	232/243	129696025	2,12944	2199	4274	6473	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129696025G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.695G>A	3.37:g.129696025G>A	ENSP00000303452:p.Arg232Gln					TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	p.R232Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1222	+			232					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.695G>A	CCDS3066.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.889	0.953444	0.18431	2.27E-4	1.17E-4	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.56941	0.44;0.43	4.42	3.51	0.40186	.	0.302445	0.35013	N	0.003517	T	0.40171	0.1106	L	0.49126	1.545	0.09310	N	0.999999	P	0.48640	0.913	B	0.35240	0.198	T	0.40831	-0.9542	10	0.56958	D	0.05	-6.4951	9.4211	0.38553	0.0:0.0:0.7781:0.2219	.	232	P20396	TRH_HUMAN	Q	232;228	ENSP00000303452:R232Q;ENSP00000426522:R228Q	ENSP00000303452:R232Q	R	+	2	0	TRH	131178715	0.660000	0.27420	0.018000	0.16275	0.005000	0.04900	1.356000	0.34079	1.146000	0.42352	0.563000	0.77884	CGG		0.617	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		38	151	0	0	0	1	0	38	151					A	129696025	G	A	129696025	3	1	3	1	0	0	0	0	1	0	0	0	16531	1116	39	1	701	1	TRH	3	129696025	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	8736708	129696025	68326405	34	287											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A													tgggcattgctcgagggaagINSaaaaaaaaggggaaagaggt							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.49	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		7	577						7	577	---	---	---	---	A	133670083	-	A	133670082	7	5	3	1	0	1	1	0	0	0	0	0	14776	933	33	0	1136	0	SLCO2A1	3	133670082	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08	3974057	133670082	64352348	35	288											
KY	339855	broad.mit.edu	37	chr3	134322916	134322916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggggccatcatccccGtggagggaagccaggacatt	15	10	1	1	rs142832129	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:134322916G>A	ENST00000423778.2	-	11	1552	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	KY_ENST00000508956.1_Silent_p.H476H|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	497					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CATCATCCCCGTGGAGGGAAG	0.617													G|||	30	0.00599042	0.0	0.0	5008	,	,		19751	0.0298		0.0	False		,,,				2504	0.0					ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1426-1428)caC>caT		kyphoscoliosis peptidase		G		2,4152		0,2,2075	33	35	34		1491	-3.1	0.9	3	dbSNP_134	34	1,8411		0,1,4205	no	coding-synonymous	KY	NM_178554.4		0,3,6280	AA,AG,GG		0.0119,0.0481,0.0239		497/662	134322916	3,12563	2077	4206	6283	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322916G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1491C>T	3.37:g.134322916G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.H497H	p.H476H			Q8NBH2	KY_HUMAN			10	1485	-			497					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1428C>T	CCDS46920.1																																																																																				0.617	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		24	96	0	0	0	1	0	24	96					A	134322916	G	A	134322916	2	1	3	1	0	0	0	0	0	0	0	1	8617	1136	40	1		1	KY	3	134322916	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	652834	134322916	63699514	36	289											
DVL3	1857	broad.mit.edu	37	chr3	183887876	183887876	+	Frame_Shift_Del	DEL	G	G	-													ctggcccctttgccgcacccGggggccgccccttggcccat							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:183887876delG	ENST00000313143.3	+	14	1829	c.1581delG	c.(1579-1581)ccgfs	p.P527fs	DVL3_ENST00000431765.1_Frame_Shift_Del_p.P510fs|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	527					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGCCGCACCCGGGGGCCGCCC	0.682																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1579-1581)ccfs		dishevelled segment polarity protein 3							50	52	51					3																	183887876		2203	4300	6503	SO:0001589	frameshift_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887876delG	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1581delG	3.37:g.183887876delG	ENSP00000316054:p.Pro527fs					DVL3_ENST00000431765.1_Frame_Shift_Del_p.P510fs|EIF2B5_ENST00000444495.1_Intron	p.P527fs	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1829	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		527					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Frame_Shift_Del	DEL	ENST00000313143.3	37	c.1581delG	CCDS3253.1																																																																																				0.682	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		7	494						7	494	---	---	---	---	-	183887876	G	-	183887876	7	5	3	1	0	1	0	1	0	0	0	0	4853	1103	39	0	1635	0	DVL3	3	183887876	Frame_Shift_Del	DEL	G	TCGA-2J-AAB6-01A-11D-A40W-08	49564960	183887876	14134554	37	290											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				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)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	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.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	880						7	880	---	---	---	---	A	185212518	-	A	185212517	7	5	3	1	0	1	1	0	0	0	0	0	16216	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08	1324641	185212517	12809913	38	291											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	10	10	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206	217	213					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			8	1141	0	0	0	1	0	8	1141					T	22390725	C	T	22390725	2	4	3	1	0	0	0	0	0	0	0	1	6668	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		22390725	168763551	39	292											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			10	198						10	198	---	---	---	---	-	81123252	CAG	-	81123250	7	5	3	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-2J-AAB6-01A-11D-A40W-08	58732525	81123250	110031026	40	293											
PTPN13	5783	broad.mit.edu	37	chr4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagagacttctcttcaggaGagactgccacatatcgtcgt	9	11	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000411767.2	+	7	1012	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000436978.1_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	317					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCTTCAGGAGAGACTGCCAC	0.458																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(949-951)Gag>Aag		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81	78	79					4																	87622708		1958	4148	6106	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622708G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.949G>A	4.37:g.87622708G>A	ENSP00000407249:p.Glu317Lys					PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K	p.E317K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1429	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	317					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.949G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612102	0.46631	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.02	5.17	0.71159	.	0.473238	0.18118	N	0.151133	T	0.36853	0.0982	L	0.57536	1.79	0.34254	D	0.679118	B;P;P;B	0.44627	0.037;0.675;0.839;0.259	B;B;B;B	0.36567	0.093;0.228;0.114;0.067	T	0.54450	-0.8292	10	0.38643	T	0.18	.	11.0908	0.48115	0.14:0.0:0.86:0.0	.	317;317;317;317	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	317;317;317;317;317;285	ENSP00000408368:E317K;ENSP00000394794:E317K;ENSP00000322675:E317K;ENSP00000407249:E317K;ENSP00000426626:E317K	ENSP00000322675:E317K	E	+	1	0	PTPN13	87841732	1.000000	0.71417	0.990000	0.47175	0.428000	0.31595	3.582000	0.53921	1.547000	0.49401	0.650000	0.86243	GAG		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			68	158	0	0	0	1	0	68	158					A	87622708	G	A	87622708	3	1	3	1	0	0	0	0	1	0	0	0	12830	943	33	2	971	2	PTPN13	4	87622708	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	6499458	87622708	103531568	41	294											
SH3TC2	79628	broad.mit.edu	37	chr5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactgaccaaccttgctgagAggtcctacgtaaaggaaaca	9	10	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	95					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTGAGAGGTCCTACGT	0.438																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(283-285)cTc>cAc		SH3 domain and tetratricopeptide repeats 2							91	78	82					5																	148424197		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148424197A>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.284T>A	5.37:g.148424197A>T	ENSP00000423660:p.Leu95His					SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	385	-			95					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.284T>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360433	0.61403	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	D;D	0.90069	-2.56;-2.61	5.92	5.92	0.95590	.	0.085133	0.46758	D	0.000280	D	0.93973	0.8070	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94506	0.7714	10	0.87932	D	0	.	14.5824	0.68300	1.0:0.0:0.0:0.0	.	95;95	Q14CC0;Q8TF17	.;S3TC2_HUMAN	H	95	ENSP00000423660:L95H;ENSP00000421860:L95H	ENSP00000313025:L95H	L	-	2	0	SH3TC2	148404390	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	7.355000	0.79434	2.255000	0.74692	0.533000	0.62120	CTC		0.438	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		87	78	0	0	0	1	0	87	78					T	148424197	A	T	148424197	3	4	3	1	0	0	0	0	1	0	0	0	14312	304	11	5	3638	5	SH3TC2	5	148424197	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		148424197	32491063	42	295											
PROP1	5626	broad.mit.edu	37	chr5	177419902	177419904	+	In_Frame_Del	DEL	TGG	TGG	-													gggtgagggaagcaggtcacTggtggtggtggtgctgcgta							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:177419902_177419904delTGG	ENST00000308304.2	-	3	795_797	c.487_489delCCA	c.(487-489)ccadel	p.P163del		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	163					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGGTCACTGGTGGTGGTGGT	0.596																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(487-489)del		PROP paired-like homeobox 1																																				SO:0001651	inframe_deletion	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419902_177419904delTGG	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.487_489delCCA	5.37:g.177419911_177419913delTGG	ENSP00000311290:p.Pro163del						p.P163del	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	795_797	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	163						In_Frame_Del	DEL	ENST00000308304.2	37	c.487_489delCCA	CCDS4430.1																																																																																				0.596	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		7	137						7	137	---	---	---	---	-	177419904	TGG	-	177419902	7	5	3	1	0	1	0	1	0	0	0	0	12604	1567	55	0	195	0	PROP1	5	177419902	In_Frame_Del	DEL	TGG	TCGA-2J-AAB6-01A-11D-A40W-08	28995705	177419902	3495358	43	296											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccaccccgacaccgGcatctcatcgaaggccatgg	10	16	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4																			0											c.(160-162)gGc>gAc		histone cluster 1, H2bo							161	145	151					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp						p.G54D	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		6	670	0	0	0	1	0	6	670					A	27861401	G	A	27861401	3	1	3	1	0	0	0	0	1	0	0	0	7184	1203	42	2	163	2	HIST1H2BO	6	27861401	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		27861401	143253666	44	297											
IGF2R	3482	broad.mit.edu	37	chr6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcttctttccagaaaccGatgacggcgtcccctgtgtc	8	14	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1898	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCAGAAACCGATGACGGCGT	0.532																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5692-5694)Gat>Aat		insulin-like growth factor 2 receptor							155	142	146					6																	160501166		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501166G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5692G>A	6.37:g.160501166G>A	ENSP00000349437:p.Asp1898Asn						p.D1898N	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5840	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1898			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5692G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190890	0.38707	.	.	ENSG00000197081	ENST00000356956	T	0.42131	0.98	5.5	4.64	0.57946	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.753844	0.13297	N	0.398503	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14671	-1.0464	10	0.31617	T	0.26	-21.8803	12.8987	0.58113	0.0752:0.0:0.9248:0.0	.	1898	P11717	MPRI_HUMAN	N	1898	ENSP00000349437:D1898N	ENSP00000349437:D1898N	D	+	1	0	IGF2R	160421156	0.963000	0.33076	0.009000	0.14445	0.005000	0.04900	4.116000	0.57871	1.459000	0.47892	0.655000	0.94253	GAT		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		117	321	0	0	0	1	0	117	321					A	160501166	G	A	160501166	3	1	3	1	0	0	0	0	1	0	0	0	7606	1058	37	1	5846	1	IGF2R	6	160501166	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	132639765	160501166	10613901	45	298											
RSPH10B	728194	broad.mit.edu	37	chr7	6797473	6797473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatgcagctcaacgaagtGaaacccaaaaaagaccgcca	9	11	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:6797473G>A	ENST00000403107.1	+	2	552	c.165G>A	c.(163-165)gtG>gtA	p.V55V	RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	55										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCAACGAAGTGAAACCCAAAA	0.453																																						ENST00000403107.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						c.(163-165)gtG>gtA		radial spoke head 10 homolog B2 (Chlamydomonas)							58	69	66					7																	6797473		2162	4263	6425	SO:0001819	synonymous_variant	728194							g.chr7:6797473G>A		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.165G>A	7.37:g.6797473G>A						RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V	p.V55V							2	552	+								A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	ENST00000403107.1	37	c.165G>A	CCDS43552.1																																																																																				0.453	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		6	631	0	0	0	1	0	6	631					A	6797473	G	A	6797473	2	1	3	1	0	0	0	0	0	0	0	1	13753	1277	45	2		2	RSPH10B	7	6797473	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		6797473	152341190	46	299											
PKD1L1	168507	broad.mit.edu	37	chr7	47970835	47970835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgtggccacatcctcCgcacagcacagcagtctcag	9	18	1	0	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	201					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)		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						CCACATCCTCCGCACAGCACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0					ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(601-603)gcG>gcA		polycystic kidney disease 1 like 1		C		1,4405	2.1+/-5.4	0,1,2202	67	68	68		603	0.9	0	7	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/2850	47970835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47970835C>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.603G>A	7.37:g.47970835C>T							p.A201A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			6	653	-			201					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.603G>A	CCDS34633.1																																																																																				0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		46	264	0	0	0	1	0	46	264					T	47970835	C	T	47970835	2	4	3	1	0	0	0	0	0	0	0	1	12006	639	23	1		1	PKD1L1	7	47970835	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	41173362	47970835	111167828	47	300											
SEMA3A	10371	broad.mit.edu	37	chr7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccaaaaggaaggtaTgataactggagctgttggcc	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAGGAAGGTATGATAACTGGA	0.388																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(172-174)cAt>cGt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							114	106	109					7																	83764207		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764207T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.173A>G	7.37:g.83764207T>C	ENSP00000265362:p.His58Arg					SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			2	487	-			58			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.173A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	t	6.858	0.527583	0.13127	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.20332	2.08;2.08;2.08	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.251915	0.47455	D	0.000223	T	0.12178	0.0296	N	0.12422	0.21	0.58432	D	0.999995	B	0.24132	0.098	B	0.31191	0.125	T	0.04537	-1.0944	10	0.02654	T	1	.	14.8712	0.70459	0.0:0.0:0.0:1.0	.	58	Q14563	SEM3A_HUMAN	R	58	ENSP00000265362:H58R;ENSP00000415260:H58R;ENSP00000391900:H58R	ENSP00000265362:H58R	H	-	2	0	SEMA3A	83602143	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.596000	0.82721	1.970000	0.57323	0.383000	0.25322	CAT		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		143	183	0	0	0	1	0	143	183					C	83764207	T	C	83764207	3	2	3	1	0	0	0	0	1	0	0	0	14074	1464	51	4	2206	4	SEMA3A	7	83764207	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	35793372	83764207	75374456	48	301											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgatacccctggacccCgagaggccctgagccaactc	9	17	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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)			CCCTGGACCCCGAGAGGCCCT	0.577																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(178-180)Cga>Tga		zinc finger and SCAN domain containing 21							67	69	68					7																	99654807		2203	4300	6503	SO:0001587	stop_gained	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.chr7:99654807C>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.178C>T	7.37:g.99654807C>T	ENSP00000292450:p.Arg60*					ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR	p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	342	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		60			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP	ENST00000292450.4	37	c.178C>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126050	0.94429	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	3.06	0.35304	.	0.000000	0.35436	N	0.003206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9397	0.19186	0.189:0.7149:0.0:0.0962	.	.	.	.	X	60	.	ENSP00000292450:R60X	R	+	1	2	ZSCAN21	99492743	0.350000	0.24878	0.968000	0.41197	0.669000	0.39330	0.544000	0.23253	0.758000	0.33059	0.655000	0.94253	CGA		0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		105	319	0	0	0	1	0	105	319					T	99654807	C	T	99654807	4	4	3	1	0	0	0	0	0	1	0	0	18286	644	23	1	180	1	ZSCAN21	7	99654807	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	15890600	99654807	59483856	49	302											
MUC17	140453	broad.mit.edu	37	chr7	100681979	100681979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaccagcacacctGtcaccacttctactgaagcc	6	16	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:100681979G>A	ENST00000306151.4	+	3	7346	c.7282G>A	c.(7282-7284)Gtc>Atc	p.V2428I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	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)					CAGCACACCTGTCACCACTTC	0.517																																						ENST00000306151.4																			0				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						c.(7282-7284)Gtc>Atc		mucin 17, cell surface associated							363	355	357					7																	100681979		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681979G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7282G>A	7.37:g.100681979G>A	ENSP00000302716:p.Val2428Ile						p.V2428I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7346	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7282G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640101	0.14386	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.52	-1.87	0.07737	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.49283	-0.8956	9	0.17369	T	0.5	.	4.4761	0.11745	0.0:0.2804:0.5127:0.2069	.	2428	Q685J3	MUC17_HUMAN	I	2428	ENSP00000302716:V2428I	ENSP00000302716:V2428I	V	+	1	0	MUC17	100468699	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-0.091000	0.12440	0.089000	0.15464	GTC		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1775	0	0	0	1	0	9	1775					A	100681979	G	A	100681979	3	1	3	1	0	0	0	0	1	0	0	0	10015	1377	48	2	7292	2	MUC17	7	100681979	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	1027172	100681979	58456684	50	303											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagcccgcctgaaatgGcacaactcccctcggacagg	11	16	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCCTGAAATGGCACAACTCCC	0.453																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1951-1953)Cca>Tca		zinc finger CCCH-type, antiviral 1							131	122	125					7																	138749667		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749667G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1951C>T	7.37:g.138749667G>A	ENSP00000242351:p.Pro651Ser					ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S	p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2267	-			651			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1951C>T	CCDS5851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985173|0.985173	0.18889|0.18889	.|.	.|.	ENSG00000105939|ENSG00000105939	ENST00000460845|ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	.|T;T;T	.|0.27402	.|1.67;1.67;1.67	4.32|4.32	1.18|1.18	0.20946|0.20946	.|WWE domain (1);	.|0.865061	.|0.09843	.|N	.|0.748673	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.26130|0.26130	0.795|0.795	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.003;0.008	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.32188|0.32188	-0.9916|-0.9916	5|10	.|0.16896	.|T	.|0.51	.|.	4.2286|4.2286	0.10592|0.10592	0.0932:0.1468:0.5896:0.1704|0.0932:0.1468:0.5896:0.1704	.|.	.|651;651	.|Q7Z2W4-2;Q7Z2W4	.|.;ZCCHV_HUMAN	V|S	215|651;773;651;411	.|ENSP00000242351:P651S;ENSP00000418385:P773S;ENSP00000419855:P651S	.|ENSP00000242351:P651S	A|P	-|-	2|1	0|0	ZC3HAV1|ZC3HAV1	138400207|138400207	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.001000|0.001000	0.01503|0.01503	0.409000|0.409000	0.21082|0.21082	0.536000|0.536000	0.28733|0.28733	-0.293000|-0.293000	0.09583|0.09583	GCC|CCA		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		5	439	0	0	0	1	0	5	439					A	138749667	G	A	138749667	3	1	3	1	0	0	0	0	1	0	0	0	17628	1203	42	2	785	2	ZC3HAV1	7	138749667	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	38067688	138749667	20388996	51	304											
ZNF786	136051	broad.mit.edu	37	chr7	148767872	148767872	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgcgttctgatgtgctcGatgagctttgagtgtttcac	13	7	2	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:148767872G>A	ENST00000491431.1	-	4	2056	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000316286.9_Silent_p.I578I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGATGAGCTTTG	0.582																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1732-1734)atC>atT		zinc finger protein 786							70	75	73					7																	148767872		2156	4276	6432	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767872G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1992C>T	7.37:g.148767872G>A						ZNF786_ENST00000491431.1_Silent_p.I664I|ZNF786_ENST00000451334.3_Silent_p.I627I	p.I578I			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2006	-	Melanoma(164;0.15)		664					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1734C>T	CCDS47738.1																																																																																				0.582	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		9	536	0	0	0	1	0	9	536					A	148767872	G	A	148767872	2	1	3	1	0	0	0	0	0	0	0	1	18211	1048	37	1		1	ZNF786	7	148767872	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	10018205	148767872	10370791	52	305											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		9	315						9	315	---	---	---	---	-	155531074	CA	-	155531073	7	5	3	1	0	1	0	1	0	0	0	0	13180	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-2J-AAB6-01A-11D-A40W-08	6763201	155531073	3607590	53	306											
SLC7A2	6542	broad.mit.edu	37	chr8	17409385	17409385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttaacacttatgatgccGtactacctcctcgatgaaaa	6	11	0	2	rs141741899		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:17409385G>A	ENST00000494857.1	+	7	1163	c.945G>A	c.(943-945)ccG>ccA	p.P315P	SLC7A2_ENST00000522656.1_Silent_p.P315P|SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000470360.1_Silent_p.P355P|SLC7A2_ENST00000004531.10_Silent_p.P355P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTATGATGCCGTACTACCTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15404	0.0		0.0	False		,,,				2504	0.001					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1063-1065)ccG>ccA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)	G	,,	2,4404	4.2+/-10.8	0,2,2201	216	200	205		945,1065,1065	-10.8	0	8	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	315/659,355/699,355/698	17409385	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17409385G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.945G>A	8.37:g.17409385G>A						SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P|SLC7A2_ENST00000004531.10_Silent_p.P355P	p.P355P			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1182	+			315					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1065G>A	CCDS34852.1																																																																																				0.483	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		5	398	0	0	0	1	0	5	398					A	17409385	G	A	17409385	2	1	3	1	0	0	0	0	0	0	0	1	14747	1132	40	1		1	SLC7A2	8	17409385	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		17409385	128954637	54	307											
FGFR1	2260	broad.mit.edu	37	chr8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggagagccgtgatggccGaaccagaagaaccccagagt	15	10	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.R445W(3)|p.R435W(1)	lung(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1333-1335)Cgg>Tgg		fibroblast growth factor receptor 1	Palifermin(DB00039)						44	51	48					8																	38275843		2129	4236	6365	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38275843G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1333C>T	8.37:g.38275843G>A	ENSP00000400162:p.Arg445Trp					FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W	p.R445W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		10	2274	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	445					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1333C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888857	0.72524	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.95698	0.8746	10	0.87932	D	0	.	14.3551	0.66733	0.0:0.0:0.8519:0.1481	.	354;354;445;435;443	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	443;476;445;445;445;443;443;356;435;354;356;443	ENSP00000380280:R443W;ENSP00000393312:R476W;ENSP00000400162:R445W;ENSP00000340636:R445W;ENSP00000432972:R443W;ENSP00000380302:R443W;ENSP00000348537:R356W;ENSP00000337247:R435W;ENSP00000327229:R354W;ENSP00000380292:R356W;ENSP00000380297:R443W	ENSP00000311337:R445W	R	-	1	2	FGFR1	38395000	0.957000	0.32711	0.989000	0.46669	0.475000	0.33008	1.615000	0.36922	2.678000	0.91216	0.655000	0.94253	CGG		0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	892	0	0	0	1	0	7	892					A	38275843	G	A	38275843	3	1	3	1	0	0	0	0	1	0	0	0	5888	1057	37	1	1171	1	FGFR1	8	38275843	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	20866458	38275843	108088179	55	308											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74	75	74					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1128G>A	8.37:g.135614834C>T						ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520214.1_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	304	0	0	0	1	0	5	304					T	135614834	C	T	135614834	2	4	3	1	0	0	0	0	0	0	0	1	17685	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	97338991	135614834	10749188	56	309											
C5	727	broad.mit.edu	37	chr9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T													aggacatatttgatgccaggINStatttctgcctcttcagaaa							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	343					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGATGCCAGGTATTTCTGCCT	0.411																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1024-1029)atctggfs		complement component 5	Eculizumab(DB01257)																																			SO:0001589	frameshift_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123785771_123785772insT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1027dupA	9.37:g.123785772_123785772dupT	ENSP00000223642:p.Pro343fs						p.W343fs	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	10	1055_1056	-			343					Q14CJ0|Q27I61	Frame_Shift_Ins	INS	ENST00000223642.1	37	c.1026_1027insA	CCDS6826.1																																																																																				0.411	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		180	179						180	179	---	---	---	---	T	123785772	-	T	123785771	7	5	3	1	0	1	1	0	0	0	0	0	2287	1261	44	0	4131	0	C5	9	123785771	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08		123785771	17427660	57	310											
NTNG2	84628	broad.mit.edu	37	chr9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgcaagcacaacacgCgaggtcagcactgccagcac	10	15	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	381	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1141-1143)Cga>Tga		netrin G2							86	67	74					9																	135114577		2203	4300	6503	SO:0001587	stop_gained	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114577C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1141C>T	9.37:g.135114577C>T	ENSP00000376921:p.Arg381*					NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*|NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*	p.R381*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1917	+			381			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Nonsense_Mutation	SNP	ENST00000393229.3	37	c.1141C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	42	9.475566	0.99181	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	.	.	.	4.94	3.05	0.35203	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.9469	0.58376	0.2951:0.7048:0.0:0.0	.	.	.	.	X	381;373;387	.	ENSP00000353888:R387X	R	+	1	2	NTNG2	134104398	0.026000	0.19158	0.331000	0.25455	0.354000	0.29330	0.378000	0.20569	0.471000	0.27319	-0.310000	0.09108	CGA		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		83	169	0	0	0	1	0	83	169					T	135114577	C	T	135114577	4	4	3	1	0	0	0	0	0	1	0	0	10747	760	27	1	1159	1	NTNG2	9	135114577	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	11328806	135114577	6098854	58	311											
ZNF365	22891	broad.mit.edu	37	chr10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagctatgttaacttgtacAgcatttcacatgaacattcc	6	10	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAACTTGTACAGCATTTCACA	0.498																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(307-309)Agc>Tgc		zinc finger protein 365							126	110	115					10																	64136259		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136259A>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.307A>T	10.37:g.64136259A>T	ENSP00000378674:p.Ser103Cys					ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C	p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	587	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		62						Missense_Mutation	SNP	ENST00000395254.3	37	c.307A>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130161	0.56721	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	3.18	0.36537	.	0.272643	0.36740	N	0.002435	T	0.45418	0.1341	L	0.56769	1.78	0.24242	N	0.995357	D;D;D;D	0.76494	0.999;0.992;0.992;0.992	D;P;P;P	0.64595	0.927;0.794;0.724;0.794	T	0.33904	-0.9850	10	0.66056	D	0.02	-2.0655	2.9212	0.05770	0.536:0.2348:0.2292:0.0	.	103;103;103;118	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	103	ENSP00000378674:S103C;ENSP00000378675:S103C;ENSP00000387091:S103C	ENSP00000378674:S103C	S	+	1	0	ZNF365	63806265	0.838000	0.29461	0.979000	0.43373	0.724000	0.41520	2.696000	0.47052	2.138000	0.66242	0.454000	0.30748	AGC		0.498	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		75	196	0	0	0	1	0	75	196					T	64136259	A	T	64136259	3	4	3	1	0	0	0	0	1	0	0	0	17922	188	7	5	309	5	ZNF365	10	64136259	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		64136259	71398488	59	312											
GPR26	2849	broad.mit.edu	37	chr10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgtgcagccggcggcCagacgagcgcctgcgcttcg	15	16	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	163					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGCCGGCGGCCAGACGAGCGC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(487-489)cCa>cTa		G protein-coupled receptor 26							18	17	17					10																	125426411		2202	4296	6498	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426411C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.488C>T	10.37:g.125426411C>T	ENSP00000284674:p.Pro163Leu						p.P163L	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	541	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	163					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.488C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472992	0.26423	.	.	ENSG00000154478	ENST00000284674	T	0.39229	1.09	4.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.137029	0.49916	D	0.000132	T	0.28632	0.0709	L	0.36672	1.1	0.51233	D	0.99991	B	0.09022	0.002	B	0.11329	0.006	T	0.07195	-1.0785	10	0.20046	T	0.44	-26.7238	8.7659	0.34702	0.1627:0.7461:0.0:0.0912	.	163	Q8NDV2	GPR26_HUMAN	L	163	ENSP00000284674:P163L	ENSP00000284674:P163L	P	+	2	0	GPR26	125416401	1.000000	0.71417	0.902000	0.35471	0.707000	0.40811	4.679000	0.61649	2.067000	0.61834	0.655000	0.94253	CCA		0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			15	66	0	0	0	1	0	15	66					T	125426411	C	T	125426411	3	4	3	1	0	0	0	0	1	0	0	0	6713	594	21	2	490	2	GPR26	10	125426411	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	61290152	125426411	10108336	60	313											
C10orf90	118611	broad.mit.edu	37	chr10	128147738	128147738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcaagcttcttcagccGttcttgtgagcgagaaatga	11	8	4	3	rs139123090	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:128147738G>A	ENST00000284694.7	-	6	1888	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000480379.1_De_novo_Start_OutOfFrame	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	590	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCTTCAGCCGTTCTTGTGAG	0.498													G|||	5	0.000998403	0.0	0.0014	5008	,	,		22360	0.0		0.004	False		,,,				2504	0.0					ENST00000480379.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65								chromosome 10 open reading frame 90		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	176	147	157		1768	4.1	1	10	dbSNP_134	157	33,8567	22.2+/-67.0	0,33,4267	yes	missense	C10orf90	NM_001004298.2	101	0,36,6467	AA,AG,GG		0.3837,0.0681,0.2768	probably-damaging	590/700	128147738	36,12970	2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147738G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1768C>T	10.37:g.128147738G>A	ENSP00000284694:p.Arg590Trp					C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000284694.7_Missense_Mutation_p.R590W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W				Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	0	367	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)						B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Translation_Start_Site	SNP	ENST00000284694.7	37		CCDS31310.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	17.42	3.384498	0.61845	6.81E-4	0.003837	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.68025	-0.3;-0.04;-0.04;-0.0	5.01	4.09	0.47781	.	0.000000	0.40064	N	0.001191	T	0.72020	0.3409	M	0.65498	2.005	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	T	0.77216	-0.2669	10	0.87932	D	0	-28.7011	10.2933	0.43610	0.0:0.0:0.6407:0.3593	.	687;590;493	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	W	543;590;493;687;590	ENSP00000284694:R590W;ENSP00000398786:R493W;ENSP00000444369:R687W;ENSP00000405995:R590W	ENSP00000284694:R590W	R	-	1	2	C10orf90	128137728	0.993000	0.37304	0.992000	0.48379	0.861000	0.49209	2.467000	0.45093	1.289000	0.44618	0.655000	0.94253	CGG		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		108	282	0	0	0	1	0	108	282					A	128147738	G	A	128147738	3	1	3	1	0	0	0	0	1	0	0	0	1628	1144	40	1	347	1	C10orf90	10	128147738	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	2721327	128147738	7387009	61	314											
TCERG1L	256536	broad.mit.edu	37	chr10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaccatggcagcggcggCggcggtggcgatggcaatgg	21	9	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	244	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcagcggcggcggcggtggcg	0.662																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(730-732)Gcc>Acc		transcription elongation regulator 1-like							16	18	18					10																	133058648		2193	4283	6476	SO:0001583	missense	256536							g.chr10:133058648C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.730G>A	10.37:g.133058648C>T	ENSP00000357631:p.Ala244Thr						p.A244T	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	815	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	244			Poly-Ala.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.730G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199205	0.22121	.	.	ENSG00000176769	ENST00000368642	T	0.30448	1.53	4.78	2.6	0.31112	.	0.315243	0.26439	N	0.024363	T	0.14700	0.0355	N	0.19112	0.55	0.09310	N	1	B	0.25850	0.136	B	0.15052	0.012	T	0.10337	-1.0634	9	.	.	.	-6.2774	6.1164	0.20130	0.1907:0.6978:0.0:0.1115	.	244	Q5VWI1	TCRGL_HUMAN	T	244	ENSP00000357631:A244T	.	A	-	1	0	TCERG1L	132948638	0.050000	0.20438	0.652000	0.29579	0.039000	0.13416	0.093000	0.15086	2.189000	0.69895	0.655000	0.94253	GCC		0.662	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		7	33	0	0	0	1	0	7	33					T	133058648	C	T	133058648	3	4	3	1	0	0	0	0	1	0	0	0	15738	768	27	1	1066	1	TCERG1L	10	133058648	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4910910	133058648	2476099	62	315											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	966	0	0	0	1	0	7	966					A	1629156	T	A	1629156	3	1	3	1	0	0	0	0	1	0	0	0	8593	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08		1629156	133377360	63	316											
OR4S2	219431	broad.mit.edu	37	chr11	55418398	55418398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggaaaaaataaacaacGtaactgaattcattttctgg	6	7	2	1	rs145635951	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:55418398G>A	ENST00000312422.2	+	1	19	c.19G>A	c.(19-21)Gta>Ata	p.V7I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AATAAACAACGTAACTGAATT	0.313													g|||	44	0.00878594	0.0	0.0	5008	,	,		14384	0.0		0.007	False		,,,				2504	0.0378					ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(19-21)Gta>Ata		olfactory receptor, family 4, subfamily S, member 2		G	ILE/VAL	2,4350		0,2,2174	54	50	51		19	1	0.7	11	dbSNP_134	51	25,7979		5,15,3982	yes	missense	OR4S2	NM_001004059.2	29	5,17,6156	AA,AG,GG		0.3123,0.046,0.2185	benign	7/312	55418398	27,12329	2176	4002	6178	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418398G>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.19G>A	11.37:g.55418398G>A	ENSP00000310337:p.Val7Ile						p.V7I	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	19	+		all_epithelial(135;0.0748)	7					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.19G>A	CCDS31505.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.327	0.618153	0.14129	4.6E-4	0.003123	ENSG00000174982	ENST00000312422	T	0.00672	5.89	5.05	1.02	0.19986	.	0.141107	0.32015	N	0.006710	T	0.00754	0.0025	L	0.45228	1.405	0.09310	N	1	B	0.28850	0.225	B	0.16722	0.016	T	0.49234	-0.8961	10	0.48119	T	0.1	.	7.0124	0.24869	0.513:0.0:0.487:0.0	.	7	Q8NH73	OR4S2_HUMAN	I	7	ENSP00000310337:V7I	ENSP00000310337:V7I	V	+	1	0	OR4S2	55174974	0.000000	0.05858	0.696000	0.30242	0.445000	0.32107	-0.700000	0.05081	0.530000	0.28619	0.448000	0.29417	GTA		0.313	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		69	274	0	0	0	1	0	69	274					A	55418398	G	A	55418398	3	1	3	1	0	0	0	0	1	0	0	0	11125	1145	40	1	21	1	OR4S2	11	55418398	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	53789242	55418398	79588118	64	317											
MS4A1	931	broad.mit.edu	37	chr11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgaaattattccaatcCaagaagaggaagaagaagaa	8	5	0	6			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	268					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(802-804)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						85	83	84					11																	60235849		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235849C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.802C>T	11.37:g.60235849C>T	ENSP00000433277:p.Gln268*					MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	p.Q268*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			7	1091	+			268					A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.802C>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224347	0.95139	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	5.32	3.34	0.38264	.	0.624912	0.17254	N	0.181052	.	.	.	.	.	.	0.51482	D	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.9187	8.6631	0.34103	0.158:0.6261:0.2159:0.0	.	.	.	.	X	268;255;268;101;268	.	ENSP00000314620:Q268X	Q	+	1	0	MS4A1	59992425	0.973000	0.33851	0.913000	0.36048	0.966000	0.64601	2.113000	0.41902	0.651000	0.30788	0.655000	0.94253	CAA		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			52	199	0	0	0	1	0	52	199					T	60235849	C	T	60235849	4	4	3	1	0	0	0	0	0	1	0	0	9895	595	21	2	824	2	MS4A1	11	60235849	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4817451	60235849	74770667	65	318											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		8	836						8	836	---	---	---	---	-	61607887	TCC	-	61607885	7	5	3	1	0	1	0	1	0	0	0	0	5387	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-2J-AAB6-01A-11D-A40W-08	1372036	61607885	73398631	66	319											
AHNAK	79026	broad.mit.edu	37	chr11	62295897	62295897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgactttggggcctttcaGgtgtaagtccacatcaggca	11	9	2	1	rs574331119		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:62295897G>A	ENST00000378024.4	-	5	6266	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1998					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L1998L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTTCAGGTGTAAGTCC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23967	0.0		0.0	False		,,,				2504	0.0					ENST00000378024.4																			1	Substitution - coding silent(1)	p.L1998L(1)	endometrium(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5992-5994)Ctg>Ttg		AHNAK nucleoprotein							333	337	336					11																	62295897		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295897G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5992C>T	11.37:g.62295897G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L1998L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6266	-		Melanoma(852;0.155)	1998					A1A586	Silent	SNP	ENST00000378024.4	37	c.5992C>T	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1634	0	0	0	1	0	7	1634					A	62295897	G	A	62295897	2	1	3	1	0	0	0	0	0	0	0	1	414	991	35	2		2	AHNAK	11	62295897	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	688012	62295897	72710619	67	320											
INTS5	80789	broad.mit.edu	37	chr11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-													atgaaccagtttttgcaggtGcagcagcagcagctggatta							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)ctgcac>cac	p.L444del	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1330-1335)cac>c		integrator complex subunit 5																																				SO:0001651	inframe_deletion	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416219_62416221delGCA	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1331_1333delTGC	11.37:g.62416228_62416230delGCA	ENSP00000327889:p.Leu444del						p.LH444del	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1383_1385	-			444					Q8N6W5|Q9C0G5	In_Frame_Del	DEL	ENST00000330574.2	37	c.1331_1333delTGC	CCDS8027.1																																																																																				0.621	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	332						7	332	---	---	---	---	-	62416221	GCA	-	62416219	7	5	3	1	0	1	0	1	0	0	0	0	7811	1319	46	0	1730	0	INTS5	11	62416219	In_Frame_Del	DEL	GCA	TCGA-2J-AAB6-01A-11D-A40W-08	120322	62416219	72590297	68	321											
PITPNM1	9600	broad.mit.edu	37	chr11	67262964	67262964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggccggggggtcagtGgccaactcactgcccttcca	15	14	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000534749.1	-	15	2615	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000356404.3_Silent_p.A809A|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Silent_p.A808A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	809	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGGTCAGTGGCCAACTCAC	0.647																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2425-2427)gcC>gcT		phosphatidylinositol transfer protein, membrane-associated 1							20	17	18					11																	67262964		2188	4284	6472	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262964G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2427C>T	11.37:g.67262964G>A						PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A	p.A809A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			16	2652	-			809			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2427C>T	CCDS31620.1																																																																																				0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		9	27	0	0	0	1	0	9	27					A	67262964	G	A	67262964	2	1	3	1	0	0	0	0	0	0	0	1	11992	1335	47	2		2	PITPNM1	11	67262964	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	4846745	67262964	67743552	69	322											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238580	71238580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaaggggggctgtggCtcttgtgggggttctaaggg	20	7	2	0	rs12271719		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:71238580C>T	ENST00000398536.4	+	1	268	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	78	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGGCTGTGGCTCTTGTGGGG	0.642																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(232-234)ggC>ggT		keratin associated protein 5-7							72	99	90					11																	71238580		2199	4294	6493	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238580C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.234C>T	11.37:g.71238580C>T							p.G78G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	268	+			78			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.234C>T	CCDS41682.1																																																																																				0.642	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	815	0	0	0	1	0	6	815					T	71238580	C	T	71238580	2	4	3	1	0	0	0	0	0	0	0	1	8597	784	28	2		2	KRTAP5-7	11	71238580	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3975616	71238580	63767936	70	323											
ODZ4	26011	broad.mit.edu	37	chr11	78440582	78440582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttgaaggggatggtcGggtgggtgaggctgatcctc	20	5	0	4			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:78440582G>A	ENST00000278550.7	-	22	3707	c.3245C>T	c.(3244-3246)cCg>cTg	p.P1082L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1082					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGGATGGTCGGGTGGGTGAG	0.577																																						ENST00000278550.7																			0											c.(3244-3246)cCg>cTg		teneurin transmembrane protein 4							60	67	65					11																	78440582		1991	4158	6149	SO:0001583	missense	26011							g.chr11:78440582G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3245C>T	11.37:g.78440582G>A	ENSP00000278550:p.Pro1082Leu						p.P1082L	NM_001098816.2	NP_001092286.2					22	3707	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3245C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542110	0.65198	.	.	ENSG00000149256	ENST00000278550	D	0.89552	-2.53	4.73	3.81	0.43845	.	0.060449	0.64402	D	0.000002	T	0.78336	0.4267	N	0.24115	0.695	0.58432	D	0.999991	P	0.49358	0.923	B	0.33521	0.165	T	0.77335	-0.2626	9	.	.	.	.	15.1288	0.72503	0.0:0.1419:0.8581:0.0	.	1082	Q6N022	TEN4_HUMAN	L	1082	ENSP00000278550:P1082L	.	P	-	2	0	ODZ4	78118230	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.477000	0.73591	1.196000	0.43129	0.491000	0.48974	CCG		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			39	147	0	0	0	1	0	39	147					A	78440582	G	A	78440582	3	1	3	1	0	0	0	0	1	0	0	0	10879	1116	39	1	5116	1	ODZ4	11	78440582	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	7202002	78440582	56565934	71	324											
GRIA4	2893	broad.mit.edu	37	chr11	105836750	105836750	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaaaacaaatggtggtacGacaaaggagaatgtggcagc	13	5	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:105836750G>A	ENST00000530497.1	+	14	2294				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D791N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATGGTGGTACGACAAAGGAGA	0.418																																						ENST00000393127.2																			1	Substitution - Missense(1)	p.D791N(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2371-2373)Gac>Aac		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						76	79	78					11																	105836750		2197	4299	6496	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105836750G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2295-5891G>A	11.37:g.105836750G>A						GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000533094.1_3'UTR	p.D791N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	15	2817	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	791					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2371G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503792	0.96371	.	.	ENSG00000152578	ENST00000393127;ENST00000525187;ENST00000539249	T;T	0.38401	1.14;1.14	6.03	6.03	0.97812	.	.	.	.	.	T	0.57888	0.2084	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50448	-0.8827	9	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	791	G3V164	.	N	791;791;96	ENSP00000376835:D791N;ENSP00000432180:D791N	ENSP00000376835:D791N	D	+	1	0	GRIA4	105341960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	GAC		0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			68	105	0	0	0	1	0	68	105					A	105836750	G	A	105836750	1	1	3	0	1	0	0	0	0	0	0	0	6800	1058	37	1		1	GRIA4	11	105836750	Intron	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	27396168	105836750	29169766	72	325											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	165						8	165	---	---	---	---	-	119535680	CCT	-	119535678	7	5	3	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-2J-AAB6-01A-11D-A40W-08	13698928	119535678	15470838	73	326											
GRIK4	2900	broad.mit.edu	37	chr11	120776148	120776148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggggatggcgtgtacggCgttcccgaggccaacggcac	17	11	0	0	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCGTGTACGGCGTTCCCGAGG	0.612																																						ENST00000527524.2																			1	Substitution - coding silent(1)	p.G474G(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1420-1422)ggC>ggT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						133	131	132					11																	120776148		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776148C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1422C>T	11.37:g.120776148C>T						GRIK4_ENST00000438375.2_Silent_p.G474G	p.G474G			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1709	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	474					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1422C>T	CCDS8433.1																																																																																				0.612	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		244	361	0	0	0	1	0	244	361					T	120776148	C	T	120776148	2	4	3	1	0	0	0	0	0	0	0	1	6806	755	27	1		1	GRIK4	11	120776148	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1240470	120776148	14230368	74	327											
ETS1	2113	broad.mit.edu	37	chr11	128391808	128391808	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggccgtcgccactcacCcggggaggggaaaagctcca	13	16	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000319397.6	-	1	391	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000392668.4_Intron|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000345075.4_Splice_Site_p.D28N|ETS1_ENST00000531611.1_Splice_Site_p.D28N	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	28					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CGCCACTCACCCGGGGAGGGG	0.652																																						ENST00000345075.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.e1+1		v-ets avian erythroblastosis virus E26 oncogene homolog 1							39	44	42					11																	128391808		2201	4297	6498	SO:0001630	splice_region_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128391808C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.82+1G>A	11.37:g.128391808C>T						ETS1_ENST00000319397.5_Splice_Site_p.D28_splice|ETS1_ENST00000392668.3_Intron|ETS1_ENST00000535549.1_Splice_Site_p.G28_splice|ETS1_ENST00000526145.1_Splice_Site_p.D28_splice|ETS1_ENST00000531611.1_Splice_Site_p.D28_splice	p.D28_splice			P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	1	397	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	28					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Splice_Site	SNP	ENST00000319397.6	37	c.82_splice	CCDS8475.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090046|5.090046	0.94149|0.94149	.|.	.|.	ENSG00000134954|ENSG00000134954	ENST00000345075;ENST00000531611;ENST00000319397;ENST00000526145|ENST00000535549	T;T;T;T|T	0.51817|0.17691	2.93;0.69;2.59;2.93|2.26	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|.	.|.	.|.	.|.	T|T	0.20333|0.20333	0.0489|0.0489	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999999|0.999999	P;P|B	0.52316|0.17038	0.743;0.952|0.02	B;P|B	0.49140|0.18871	0.097;0.601|0.023	T|T	0.02901|0.02901	-1.1096|-1.1096	8|8	.|.	.|.	.|.	.|.	14.9724|14.9724	0.71243|0.71243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28|28	P14921;Q96AC5|F5GYX9	ETS1_HUMAN;.|.	N|S	28|28	ENSP00000340485:D28N;ENSP00000435666:D28N;ENSP00000324578:D28N;ENSP00000433500:D28N|ENSP00000441430:G28S	.|.	D|G	-|-	1|1	0|0	ETS1|ETS1	127897018|127897018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.060000|4.060000	0.57477|0.57477	2.325000|2.325000	0.78763|0.78763	0.591000|0.591000	0.81541|0.81541	GAT|GGT		0.652	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	Missense_Mutation	131	193	0	0	0	1	0	131	193					T	128391808	C	T	128391808	5	4	3	1	0	0	0	0	0	0	1	0	5293	637	22	2	1275	2	ETS1	11	128391808	Splice_Site	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	7615660	128391808	6614708	75	328											
PRMT8	56341	broad.mit.edu	37	chr12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagattacctcactgtccGgaggggggaggaaatctacg	15	8	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542																																						ENST00000382622.3																			1	Substitution - Missense(1)	p.R349Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1045-1047)cGg>cAg		protein arginine methyltransferase 8							123	124	124					12																	3701463		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701463G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1046G>A	12.37:g.3701463G>A	ENSP00000372067:p.Arg349Gln					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	p.R349Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1436	+			349					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1046G>A	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920919	0.52653	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.76316	-1.01;-1.01	5.24	5.24	0.73138	.	0.045992	0.85682	D	0.000000	T	0.68035	0.2957	N	0.25647	0.755	0.43476	D	0.995693	B;B	0.18863	0.031;0.01	B;B	0.16722	0.016;0.007	T	0.63462	-0.6632	10	0.37606	T	0.19	.	16.3206	0.82950	0.0:0.0:1.0:0.0	.	340;349	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	Q	340;349	ENSP00000414507:R340Q;ENSP00000372067:R349Q	ENSP00000372067:R349Q	R	+	2	0	PRMT8	3571724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.440000	0.82611	0.561000	0.74099	CGG		0.542	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		5	488	0	0	0	1	0	5	488					A	3701463	G	A	3701463	3	1	3	1	0	0	0	0	1	0	0	0	12589	1116	39	1	1080	1	PRMT8	12	3701463	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		3701463	130150432	76	329											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacagtggcagaagttgatGaatctaatggagaagaaaaa	11	4	1	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000299275.6	+	19	2467	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	821					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAGTTGATGAATCTAATGG	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2635-2637)Gaa>Taa		pleckstrin homology domain containing, family A member 5							97	98	97					12																	19501393		2203	4299	6502	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501393G>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2461G>T	12.37:g.19501393G>T	ENSP00000299275:p.Glu821*					PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*	p.E879*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			21	2639	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		821					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.2635G>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	42	9.521210	0.99193	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	5.09	5.09	0.68999	.	0.284028	0.37136	N	0.002230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.7244	18.8652	0.92289	0.0:0.0:1.0:0.0	.	.	.	.	X	884;879;983;987;821;579;879;810;803;776	.	ENSP00000299275:E821X	E	+	1	0	PLEKHA5	19392660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	2.489000	0.83994	0.563000	0.77884	GAA		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		5	301	1	0	8.12818e-05	1	8.30298e-05	5	301					T	19501393	G	T	19501393	4	4	3	1	0	0	0	0	0	1	0	0	12101	1291	45	3	2853	3	PLEKHA5	12	19501393	Nonsense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	15799930	19501393	114350502	77	330											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		101	89	1	0	3.0332e-58	1	3.2196e-58	101	89					A	25398284	C	A	25398284	3	1	3	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	5896891	25398284	108453611	78	331											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caattggtcttttacctcagGagtctctgaggtcataaact	8	9	4	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000298892.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P715A	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTACCTCAGGAGTCTCTGAG	0.373																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2143-2145)Cct>Gct		caprin family member 2							81	85	84					12																	30873750		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873750G>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2143C>G	12.37:g.30873750G>C	ENSP00000298892:p.Pro715Ala					CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A	p.P715A	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			12	2893	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		715						Missense_Mutation	SNP	ENST00000298892.5	37	c.2143C>G	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900537	0.52227	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.45	3.56	0.40772	.	0.402823	0.26041	N	0.026690	T	0.18087	0.0434	L	0.46157	1.445	0.37841	D	0.92906	B;B;B;B	0.24721	0.11;0.012;0.015;0.026	B;B;B;B	0.22152	0.028;0.027;0.016;0.038	T	0.06427	-1.0827	10	0.09338	T	0.73	-5.5419	14.5087	0.67769	0.0:0.42:0.58:0.0	.	715;715;715;715	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	A	461;715;715;382;715;634	ENSP00000415407:P461A;ENSP00000298892:P715A;ENSP00000251071:P715A;ENSP00000309785:P382A;ENSP00000391479:P715A;ENSP00000438010:P634A	ENSP00000251071:P715A	P	-	1	0	CAPRIN2	30765017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.051000	0.30417	0.619000	0.30197	-0.282000	0.10007	CCT		0.373	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		7	313	0	0	0	1	0	7	313					C	30873750	G	C	30873750	3	2	3	1	0	0	0	0	1	0	0	0	2643	1174	41	5	1268	5	CAPRIN2	12	30873750	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	5475466	30873750	102978145	79	332											
DNM1L	10059	broad.mit.edu	37	chr12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-													ggattttgatgaaattcgacAagaaattgaaaatgaaacag							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000549701.1	+	4	400_402	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000452533.2_In_Frame_Del_p.E110del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000548671.1_3'UTR			O00429	DNM1L_HUMAN	dynamin 1-like	110	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAATTCGACAAGAAATTGAAAA	0.291																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(325-330)caa>c		dynamin 1-like																																				SO:0001651	inframe_deletion	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861115_32861117delAAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.326_328delAAG	12.37:g.32861115_32861117delAAG	ENSP00000450399:p.Glu110del					DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_In_Frame_Del_p.QE122del|DNM1L_ENST00000547312.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000266481.6_In_Frame_Del_p.QE109del|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000381000.4_In_Frame_Del_p.QE122del|DNM1L_ENST00000358214.5_In_Frame_Del_p.QE122del	p.QE109del	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			4	490_492	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		109			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	In_Frame_Del	DEL	ENST00000549701.1	37	c.326_328delAAG	CCDS8729.1																																																																																				0.291	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		77	103						77	103	---	---	---	---	-	32861117	AAG	-	32861115	7	5	3	1	0	1	0	1	0	0	0	0	4687	130	5	0	340	0	DNM1L	12	32861115	In_Frame_Del	DEL	AAG	TCGA-2J-AAB6-01A-11D-A40W-08	1987365	32861115	100990780	80	333											
PDZRN4	29951	broad.mit.edu	37	chr12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacccagtcctcttccGgacagagcagtaaagagtcg	10	14	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:41966931G>A	ENST00000402685.2	+	10	2358	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R|PDZRN4_ENST00000298919.7_Missense_Mutation_p.G524R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512																																						ENST00000298919.7																			1	Substitution - Missense(1)	p.G526R(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1570-1572)Gga>Aga		PDZ domain containing ring finger 4							109	109	109					12																	41966931		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966931G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2350G>A	12.37:g.41966931G>A	ENSP00000384197:p.Gly784Arg					PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R	p.G524R			Q6ZMN7	PZRN4_HUMAN			10	1958	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	784					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1570G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323271	0.01309	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.43294	0.95;0.95;0.95	5.02	3.16	0.36331	.	1.516350	0.03598	N	0.232999	T	0.29524	0.0736	N	0.16656	0.425	0.29554	N	0.851159	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.08055	0.002;0.003;0.003	T	0.23190	-1.0195	10	0.17832	T	0.49	-16.4014	9.327	0.37999	0.2387:0.0:0.7613:0.0	.	784;524;526	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	784;526;524	ENSP00000384197:G784R;ENSP00000439990:G526R;ENSP00000298919:G524R	ENSP00000298919:G524R	G	+	1	0	PDZRN4	40253198	0.921000	0.31238	0.178000	0.23040	0.064000	0.16182	1.339000	0.33885	0.763000	0.33175	0.650000	0.86243	GGA		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		5	577	0	0	0	1	0	5	577					A	41966931	G	A	41966931	3	1	3	1	0	0	0	0	1	0	0	0	11752	1117	39	1	2461	1	PDZRN4	12	41966931	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	9105816	41966931	91884964	81	334											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	608						7	608	---	---	---	---	-	55615116	CTT	-	55615114	7	5	3	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-2J-AAB6-01A-11D-A40W-08	13648183	55615114	78236781	82	335											
HVCN1	84329	broad.mit.edu	37	chr12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-													actggtgtgggtggtggctgCtcctcctcctcctcctcctc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(163-165)del		hydrogen voltage-gated channel 1																																				SO:0001651	inframe_deletion	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099110_111099112delCTC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del					HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del	p.E55del			Q96D96	HVCN1_HUMAN			3	916_918	-			55			Poly-Glu.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	c.163_165delGAG	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	239						7	239	---	---	---	---	-	111099112	CTC	-	111099110	7	5	3	1	0	1	0	1	0	0	0	0	7492	796	28	0	676	0	HVCN1	12	111099110	In_Frame_Del	DEL	CTC	TCGA-2J-AAB6-01A-11D-A40W-08	55483996	111099110	22752785	83	336											
KSR2	283455	broad.mit.edu	37	chr12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgggggacagctggcGgatgatctctggtgccaggt	18	8	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000339824.5	-	17	3239	c.2512C>T	c.(2512-2514)Cgc>Tgc	p.R838C	KSR2_ENST00000425217.1_Missense_Mutation_p.R809C|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2425-2427)Cgc>Tgc		kinase suppressor of ras 2							61	74	69					12																	117914339		2071	4213	6284	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914339G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2512C>T	12.37:g.117914339G>A	ENSP00000339952:p.Arg838Cys					KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R838C	p.R809C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			17	2479	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		838			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2425C>T		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965842	0.53507	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.69	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057415	0.64402	D	0.000001	D	0.85217	0.5646	M	0.89904	3.07	0.58432	D	0.999999	B	0.19935	0.04	B	0.19391	0.025	D	0.83736	0.0201	10	0.66056	D	0.02	.	10.7666	0.46297	0.1442:0.0:0.8558:0.0	.	838	Q6VAB6	KSR2_HUMAN	C	809;838	ENSP00000389715:R809C;ENSP00000339952:R838C	ENSP00000339952:R838C	R	-	1	0	KSR2	116398722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.061000	0.89467	1.407000	0.46875	-0.142000	0.14014	CGC		0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	41	0	0	0	1	0	11	41					A	117914339	G	A	117914339	3	1	3	1	0	0	0	0	1	0	0	0	8613	1116	39	1	356	1	KSR2	12	117914339	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	6815229	117914339	15937556	84	337											
SBNO1	55206	broad.mit.edu	37	chr12	123780517	123780517	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatagctgtttctgttGgaccgcaagctgttgagact	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:123780517G>A	ENST00000602398.1	-	32	4247	c.4120C>T	c.(4120-4122)Caa>Taa	p.Q1374*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1374					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTTTCTGTTGGACCGCAAGC	0.438																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4120-4122)Caa>Taa		strawberry notch homolog 1 (Drosophila)							364	325	338					12																	123780517		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780517G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4120C>T	12.37:g.123780517G>A	ENSP00000473665:p.Gln1374*					SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374*	p.Q1374*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4119	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1374					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.4120C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	42	9.178315	0.99091	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-11.0209	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	1374;1373	.	ENSP00000267176:Q1373X	Q	-	1	0	SBNO1	122346470	1.000000	0.71417	0.930000	0.37139	0.978000	0.69477	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	CAA		0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	736	0	0	0	1	0	6	736					A	123780517	G	A	123780517	4	1	3	1	0	0	0	0	0	1	0	0	13912	1357	47	2	65	2	SBNO1	12	123780517	Nonsense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	5866178	123780517	10071378	85	338											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	427						7	427	---	---	---	---	-	20426145	CAT	-	20426143	7	5	3	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-2J-AAB6-01A-11D-A40W-08		20426143	94743735	86	339											
CENPJ	55835	broad.mit.edu	37	chr13	25466782	25466782	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcctccctgcctaccGcaagcttgtccttcttctcc	5	21	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1072					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCTGCCTACCGCAAGCTTGTC	0.522																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e10+1		centromere protein J							124	117	120					13																	25466782		2203	4300	6503	SO:0001630	splice_region_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466782G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3216+1C>T	13.37:g.25466782G>A						CENPJ_ENST00000545981.1_Splice_Site_p.A1072_splice	p.A1072_splice	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3400	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1072					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Splice_Site	SNP	ENST00000381884.4	37	c.3216_splice	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.070010	0.07228	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.34667	1.35;1.82	4.42	0.612	0.17591	.	1.551700	0.03144	N	0.167020	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.11329	0.006;0.003	T	0.15122	-1.0448	10	0.31617	T	0.26	.	3.6362	0.08150	0.5195:0.0:0.3135:0.1669	.	153;1072	Q5T6R6;Q9HC77	.;CENPJ_HUMAN	V	1072	ENSP00000371308:A1072V;ENSP00000441090:A1072V	ENSP00000371308:A1072V	A	-	2	0	CENPJ	24364782	0.001000	0.12720	0.342000	0.25602	0.003000	0.03518	-0.331000	0.07914	0.206000	0.20587	-0.391000	0.06502	GCG		0.522	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	Missense_Mutation	84	400	0	0	0	1	0	84	400					A	25466782	G	A	25466782	5	1	3	1	0	0	0	0	0	0	1	0	3243	1101	38	1	833	1	CENPJ	13	25466782	Splice_Site	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	5040639	25466782	89703096	87	340											
CKAP2	26586	broad.mit.edu	37	chr13	53035900	53035900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataataagaaataagactctAtcaagatccatagcatctga	5	7	3	4			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATAAGACTCTATCAAGATCCA	0.388																																						ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(940-942)ctA>ctG		cytoskeleton associated protein 2							77	82	81					13																	53035900		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035900A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.942A>G	13.37:g.53035900A>G						CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000258607.5_Silent_p.L313L	p.L314L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	1032	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	314						Silent	SNP	ENST00000378037.5	37	c.942A>G	CCDS41893.1																																																																																				0.388	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			8	596	0	0	0	1	0	8	596					G	53035900	A	G	53035900	2	3	3	1	0	0	0	0	0	0	0	1	3451	436	16	4		4	CKAP2	13	53035900	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	27569118	53035900	62133978	88	341											
PCDH9	5101	broad.mit.edu	37	chr13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttataagacttcagatTtgccagaggaatgtctgtca	9	7	3	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000377865.2	-	4	3786	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1218Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	1218					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTTCAGATTTGCCAGAGGA	0.438																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3652-3654)Aat>Tat		protocadherin 9							125	113	117					13																	66878849		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878849T>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3652A>T	13.37:g.66878849T>A	ENSP00000367096:p.Asn1218Tyr					PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y	p.N1218Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4343	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1218					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3652A>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852432	0.51270	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55588	0.58;0.58;0.51;0.51	6.05	6.05	0.98169	.	0.000000	0.50627	D	0.000113	T	0.43389	0.1245	N	0.19112	0.55	0.41796	D	0.989894	B;B;B	0.23442	0.085;0.042;0.085	B;B;B	0.28139	0.064;0.086;0.064	T	0.36890	-0.9729	10	0.56958	D	0.05	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	1176;1184;1218	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	Y	1218;1218;1184;1184	ENSP00000442186:N1218Y;ENSP00000367096:N1218Y;ENSP00000401699:N1184Y;ENSP00000332060:N1184Y	ENSP00000332060:N1184Y	N	-	1	0	PCDH9	65776850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	AAT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		44	285	0	0	0	1	0	44	285					A	66878849	T	A	66878849	3	1	3	1	0	0	0	0	1	0	0	0	11560	1841	64	5	65	5	PCDH9	13	66878849	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	13842949	66878849	48291029	89	342											
SALL2	6297	broad.mit.edu	37	chr14	21991588	21991588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagacaactcctcttcCggtgatggctgctgggactg	11	13	2	2	rs200356033	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.P621P|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTCCTCTTCCGGTGATGGCT	0.577													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0					ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2272-2274)ccG>ccA		spalt-like transcription factor 2		C		0,4406		0,0,2203	51	50	50		2274	-4.5	0.2	14		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL2	NM_005407.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		758/1008	21991588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991588C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2274G>A	14.37:g.21991588C>T						SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	p.P758P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2568	-	all_cancers(95;0.000662)		758					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2274G>A	CCDS32045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.549	0.286213	0.10513	0.0	1.16E-4	ENSG00000165821	ENST00000546363	.	.	.	4.76	-4.5	0.03493	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.33671	D	0.61096	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	-4.7548	2.0412	0.03550	0.1233:0.2335:0.3794:0.2638	.	.	.	.	Q	617	.	.	R	-	2	0	SALL2	21061428	0.000000	0.05858	0.236000	0.24074	0.786000	0.44442	-1.953000	0.01526	-1.030000	0.03312	-1.264000	0.01445	CGG		0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		33	162	0	0	0	1	0	33	162					T	21991588	C	T	21991588	2	4	3	1	0	0	0	0	0	0	0	1	13861	639	23	1		1	SALL2	14	21991588	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		21991588	85357952	90	343											
DHRS2	10202	broad.mit.edu	37	chr14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgcccgacgtctggccCgggacggggcccacgtggtc	15	17	1	0	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	58					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACGTCTGGCCCGGGACGGGGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16784	0.0		0.0	False		,,,				2504	0.0					ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(172-174)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 2							76	83	81					14																	24108419		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108419C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.172C>T	14.37:g.24108419C>T	ENSP00000250383:p.Arg58Trp					DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W	p.R58W	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	648	+			36	L -> V (in Ref. 6; AA sequence).				D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.172C>T	CCDS9604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.16	2.155684	0.38021	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.45276	0.9;0.9;0.9	4.91	0.99	0.19807	NAD(P)-binding domain (1);	0.667396	0.15085	N	0.281419	T	0.52435	0.1734	M	0.78285	2.405	0.22591	N	0.998957	D;D;D;P	0.69078	0.991;0.978;0.997;0.875	P;P;P;B	0.56648	0.773;0.773;0.803;0.193	T	0.43782	-0.9370	10	0.87932	D	0	.	5.0764	0.14634	0.2895:0.5478:0.0:0.1626	.	36;58;58;36	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	W	58	ENSP00000401213:R58W;ENSP00000250383:R58W;ENSP00000344674:R58W	ENSP00000250383:R58W	R	+	1	2	DHRS2	23178259	0.112000	0.22096	0.511000	0.27724	0.002000	0.02628	0.432000	0.21461	0.007000	0.14760	-0.350000	0.07774	CGG		0.642	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		156	577	0	0	0	1	0	156	577					T	24108419	C	T	24108419	3	4	3	1	0	0	0	0	1	0	0	0	4506	643	23	1	178	1	DHRS2	14	24108419	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	2116831	24108419	83241121	91	344											
PRPF39	55015	broad.mit.edu	37	chr14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatacttagaatttgaaaTtgaaaatgggactcatgaac	8	4	1	5	rs377585844		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	364					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAATTTGAAATTGAAAATGGG	0.333																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1090-1092)aTt>aCt		pre-mRNA processing factor 39		T	THR/ILE	1,4403	2.1+/-5.4	0,1,2201	65	61	62		1091	5.7	1	14		62	0,8598		0,0,4299	no	missense	PRPF39	NM_017922.3	89	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign	364/670	45578898	1,13001	2202	4299	6501	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45578898T>C	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1091T>C	14.37:g.45578898T>C	ENSP00000348010:p.Ile364Thr						p.I364T	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			8	1261	+			364					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.1091T>C	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725036	0.48833	2.27E-4	0.0	ENSG00000185246	ENST00000355765	T	0.34072	1.38	5.72	5.72	0.89469	.	0.099811	0.64402	D	0.000003	T	0.44222	0.1283	M	0.61703	1.905	0.80722	D	1	P	0.38129	0.619	P	0.46299	0.511	T	0.24870	-1.0148	10	0.14252	T	0.57	-0.4776	14.8233	0.70091	0.0:0.0:0.0:1.0	.	364	Q86UA1	PRP39_HUMAN	T	364	ENSP00000348010:I364T	ENSP00000348010:I364T	I	+	2	0	PRPF39	44648648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.184000	0.69523	0.383000	0.25322	ATT		0.333	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			13	67	0	0	0	1	0	13	67					C	45578898	T	C	45578898	3	2	3	1	0	0	0	0	1	0	0	0	12616	1493	52	4	1117	4	PRPF39	14	45578898	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	21470479	45578898	61770642	92	345											
PCNX	22990	broad.mit.edu	37	chr14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccagtacttttctccaTtttttgtggtttattagtgg	7	6	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1200						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3598-3600)aTt>aGt		pecanex homolog (Drosophila)							168	150	156					14																	71500186		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500186T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3599T>G	14.37:g.71500186T>G	ENSP00000304192:p.Ile1200Ser					PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	p.I1200S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4045	+			1200					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3599T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.934512|3.934512	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.11063	.|3.25;3.23;2.81	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.547984	.|0.21165	.|N	.|0.079081	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.43923|0.43923	1.385|1.385	0.25807|0.25807	N|N	0.984448|0.984448	.|B;B;B	.|0.21606	.|0.039;0.037;0.058	.|B;B;B	.|0.31191	.|0.125;0.053;0.085	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.87932	.|D	.|0	.|.	15.9971|15.9971	0.80260|0.80260	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1200;1089;1200	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	259|1200;1200;1089	.|ENSP00000304192:I1200S;ENSP00000238570:I1200S;ENSP00000396617:I1089S	.|ENSP00000238570:I1200S	F|I	+|+	1|2	0|0	PCNX|PCNX	70569939|70569939	1.000000|1.000000	0.71417|0.71417	0.286000|0.286000	0.24833|0.24833	0.995000|0.995000	0.86356|0.86356	7.436000|7.436000	0.80404|0.80404	2.186000|2.186000	0.69663|0.69663	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		82	295	0	0	0	1	0	82	295					G	71500186	T	G	71500186	3	3	3	1	0	0	0	0	1	0	0	0	11633	1493	52	4	3665	4	PCNX	14	71500186	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	25921288	71500186	35849354	93	346											
YLPM1	56252	broad.mit.edu	37	chr14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccacctctacctacaAtgccccctccagtgttgcct	5	19	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000552421.1	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000325680.7_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					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)			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)		TCTACCTACAATGCCCCCTCC	0.527																																						ENST00000325680.7																			0				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						c.(1597-1599)Atg>Gtg		YLP motif containing 1							209	217	214					14																	75248343		2100	4203	6303	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248343A>G	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.1597A>G	14.37:g.75248343A>G	ENSP00000447921:p.Met533Val					YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron	p.M533V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1721	+			340					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1597A>G		.	.	.	.	.	.	.	.	.	.	A	11.07	1.531914	0.27387	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.84	4.67	0.58626	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.14282	-1.0478	8	0.12430	T	0.62	.	10.5131	0.44874	0.8549:0.0:0.0:0.1451	.	533	P49750-4	.	V	533;533;246	.	ENSP00000324463:M533V	M	+	1	0	YLPM1	74318096	0.874000	0.30092	1.000000	0.80357	0.994000	0.84299	1.654000	0.37334	1.006000	0.39211	0.482000	0.46254	ATG		0.527	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		11	701	0	0	0	1	0	11	701					G	75248343	A	G	75248343	3	3	3	1	0	0	0	0	1	0	0	0	17540	101	4	4	1611	4	YLPM1	14	75248343	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	3748157	75248343	32101197	94	347											
PTPN21	11099	broad.mit.edu	37	chr14	88946299	88946299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgcggatctcgggctgGctgtagaccagcgccgcggg	17	13	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	492					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTCGGGCTGGCTGTAGACCA	0.677																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1474-1476)agC>agT		protein tyrosine phosphatase, non-receptor type 21							31	37	35					14																	88946299		2203	4299	6502	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946299G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1476C>T	14.37:g.88946299G>A						PTPN21_ENST00000328736.3_Silent_p.S492S	p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1760	-			492						Silent	SNP	ENST00000556564.1	37	c.1476C>T	CCDS9884.1																																																																																				0.677	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	263	0	0	0	1	0	5	263					A	88946299	G	A	88946299	2	1	3	1	0	0	0	0	0	0	0	1	12836	1194	42	2		2	PTPN21	14	88946299	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	13697956	88946299	18403241	95	348											
DUOXA2	405753	broad.mit.edu	37	chr15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccgctctcccagacTtaaaatgtatcaccactaac	6	14	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	313					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTCCCAGACTTAAAATGTAT	0.627											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323030.5																			0											c.(937-939)Tta>Gta		dual oxidase maturation factor 2							56	67	63					15																	45410081		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410081T>G	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.937T>G	15.37:g.45410081T>G	ENSP00000319705:p.Leu313Val		OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron	p.L313V	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1222	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	313					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.937T>G	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	T	12.13	1.847058	0.32606	.	.	ENSG00000140274	ENST00000323030	T	0.58060	0.36	4.74	0.676	0.17958	.	1.222260	0.05905	N	0.630659	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999996	B	0.22800	0.075	B	0.19148	0.024	T	0.19976	-1.0289	10	0.34782	T	0.22	-0.0761	4.5387	0.12047	0.3478:0.0:0.18:0.4722	.	313	Q1HG44	DOXA2_HUMAN	V	313	ENSP00000319705:L313V	ENSP00000319705:L313V	L	+	1	2	DUOXA2	43197373	0.002000	0.14202	0.005000	0.12908	0.048000	0.14542	0.541000	0.23207	0.346000	0.23899	0.459000	0.35465	TTA		0.627	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		116	277	0	0	0	1	0	116	277					G	45410081	T	G	45410081	3	3	3	1	0	0	0	0	1	0	0	0	4819	1606	56	4	959	4	DUOXA2	15	45410081	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08		45410081	57121311	96	349											
FGF7	2252	broad.mit.edu	37	chr15	49776634	49776634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatcaaaaggggattcCtgtaagaggaaaaaaaacga	9	5	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:49776634C>T	ENST00000267843.4	+	4	1129	c.518C>T	c.(517-519)cCt>cTt	p.P173L	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	173					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAGGGGATTCCTGTAAGAGGA	0.363																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(517-519)cCt>cTt		fibroblast growth factor 7	Palifermin(DB00039)						22	22	22					15																	49776634		2016	3846	5862	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776634C>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.518C>T	15.37:g.49776634C>T	ENSP00000267843:p.Pro173Leu					FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	p.P173L	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1129	+		all_lung(180;0.00391)	173					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.518C>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389361	0.82902	.	.	ENSG00000140285	ENST00000267843	D	0.82619	-1.63	5.81	5.81	0.92471	.	0.161108	0.56097	D	0.000032	D	0.90734	0.7092	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.89600	0.3834	9	0.44086	T	0.13	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	173	P21781	FGF7_HUMAN	L	173	ENSP00000267843:P173L	ENSP00000267843:P173L	P	+	2	0	FGF7	47563926	1.000000	0.71417	0.913000	0.36048	0.986000	0.74619	7.626000	0.83164	2.730000	0.93505	0.650000	0.86243	CCT		0.363	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		5	146	0	0	0	1	0	5	146					T	49776634	C	T	49776634	3	4	3	1	0	0	0	0	1	0	0	0	5882	681	24	2	528	2	FGF7	15	49776634	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4366553	49776634	52754758	97	350											
PIF1	80119	broad.mit.edu	37	chr15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggtgacgaagtcgcGgggccgcgggcccagcagct	18	12	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						ACGAAGTCGCGGGGCCGCGGG	0.761																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(433-435)Cgc>Tgc		PIF1 5'-to-3' DNA helicase							4	5	5					15																	65116102		1528	3381	4909	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65116102G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.433C>T	15.37:g.65116102G>A	ENSP00000268043:p.Arg145Cys					PIF1_ENST00000559239.1_Missense_Mutation_p.R145C|PIF1_ENST00000333425.6_Missense_Mutation_p.R145C	p.R145C			Q9H611	PIF1_HUMAN			2	527	-			145						Missense_Mutation	SNP	ENST00000268043.4	37	c.433C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528021	0.44969	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.78364	-0.14;-1.17	4.47	4.47	0.54385	.	0.272984	0.35677	N	0.003051	T	0.80385	0.4613	M	0.61703	1.905	0.53688	D	0.999977	D;D	0.69078	0.968;0.997	B;P	0.49999	0.406;0.628	T	0.83148	-0.0105	10	0.59425	D	0.04	-11.2753	15.0059	0.71513	0.0:0.0:1.0:0.0	.	145;145	Q9H611-2;Q9H611	.;PIF1_HUMAN	C	145	ENSP00000268043:R145C;ENSP00000328174:R145C	ENSP00000268043:R145C	R	-	1	0	PIF1	62903155	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	4.455000	0.60075	2.188000	0.69820	0.313000	0.20887	CGC		0.761	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		15	29	0	0	0	1	0	15	29					A	65116102	G	A	65116102	3	1	3	1	0	0	0	0	1	0	0	0	11925	1116	39	1	1540	1	PIF1	15	65116102	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	15339468	65116102	37415290	98	351											
FEM1B	10116	broad.mit.edu	37	chr15	68583276	68583276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtgctgaggtgaatgCcgtggacaatgagggaaaca	16	6	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:68583276C>T	ENST00000306917.4	+	2	2195	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	527					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAGGTGAATGCCGTGGACAAT	0.463																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1579-1581)gCc>gTc		fem-1 homolog b (C. elegans)							218	198	205					15																	68583276		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583276C>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1580C>T	15.37:g.68583276C>T	ENSP00000307298:p.Ala527Val						p.A527V	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	2195	+			527					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1580C>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905847	0.72868	.	.	ENSG00000169018	ENST00000306917	T	0.71698	-0.59	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	L	0.58510	1.815	0.80722	D	1	D	0.55172	0.97	P	0.52646	0.705	T	0.74185	-0.3747	10	0.34782	T	0.22	-0.258	19.2149	0.93772	0.0:1.0:0.0:0.0	.	527	Q9UK73	FEM1B_HUMAN	V	527	ENSP00000307298:A527V	ENSP00000307298:A527V	A	+	2	0	FEM1B	66370330	1.000000	0.71417	0.967000	0.41034	0.953000	0.61014	5.948000	0.70249	2.791000	0.96007	0.491000	0.48974	GCC		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			5	516	0	0	0	1	0	5	516					T	68583276	C	T	68583276	3	4	3	1	0	0	0	0	1	0	0	0	5835	739	26	2	1586	2	FEM1B	15	68583276	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3467174	68583276	33948116	99	352											
OR4F6	390648	broad.mit.edu	37	chr15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaagccaatcactctGtggtctctgagtttgtgttc	11	8	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCACTCTGTGGTCTCTGA	0.473																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(22-24)Gtg>Atg		olfactory receptor, family 4, subfamily F, member 6							133	121	125					15																	102345944		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102345944G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.22G>A	15.37:g.102345944G>A	ENSP00000327525:p.Val8Met						p.V8M	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	43	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		8					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.22G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	7.495	0.651526	0.14516	.	.	ENSG00000184140	ENST00000328882	T	0.20069	2.1	4.68	0.44	0.16572	.	0.780148	0.10877	N	0.624199	T	0.17365	0.0417	L	0.46670	1.46	0.24977	N	0.991629	B	0.25351	0.124	B	0.25405	0.06	T	0.26326	-1.0106	10	0.38643	T	0.18	.	6.7176	0.23312	0.4434:0.0:0.5566:0.0	.	8	Q8NGB9	OR4F6_HUMAN	M	8	ENSP00000327525:V8M	ENSP00000327525:V8M	V	+	1	0	OR4F6	100163467	0.000000	0.05858	0.314000	0.25224	0.168000	0.22595	0.041000	0.13927	-0.002000	0.14469	0.591000	0.81541	GTG		0.473	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			86	232	0	0	0	1	0	86	232					A	102345944	G	A	102345944	3	1	3	1	0	0	0	0	1	0	0	0	11108	1377	48	2	24	2	OR4F6	15	102345944	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	33762668	102345944	185448	100	353											
ZNF500	26048	broad.mit.edu	37	chr16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccctgccatcaccgcCgtcctccaactggatcccag	6	20	1	0	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S|ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	262					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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(784-786)Ggc>Agc		zinc finger protein 500		C	SER/GLY	0,4382		0,0,2191	39	46	43		784	3.1	0	16	dbSNP_134	43	1,8583		0,1,4291	no	missense	ZNF500	NM_021646.1	56	0,1,6482	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/481	4803036	1,12965	2191	4292	6483	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4803036C>T	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.784G>A	16.37:g.4803036C>T	ENSP00000219478:p.Gly262Ser					ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S	p.G262S			O60304	ZN500_HUMAN			6	1083	-			262					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.784G>A	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054035	0.19907	0.0	1.16E-4	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.41;3.32	4.04	3.08	0.35506	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B	0.33755	0.424;0.27	B;B	0.17098	0.017;0.017	T	0.45629	-0.9248	9	0.23891	T	0.37	.	9.1061	0.36698	0.0:0.8891:0.0:0.1109	.	262;262	B4DNN9;O60304	.;ZN500_HUMAN	S	262	ENSP00000445714:G262S;ENSP00000219478:G262S	ENSP00000219478:G262S	G	-	1	0	ZNF500	4743037	0.001000	0.12720	0.048000	0.18961	0.011000	0.07611	1.284000	0.33249	0.694000	0.31654	0.655000	0.94253	GGC		0.587	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		41	160	0	0	0	1	0	41	160					T	4803036	C	T	4803036	3	4	3	1	0	0	0	0	1	0	0	0	18001	652	23	1	662	1	ZNF500	16	4803036	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		4803036	85551717	101	354											
HYDIN	54768	broad.mit.edu	37	chr16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatatagccttcttctgggCtaatggagaaatgaggctca	10	7	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4575					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCTGGGCTAATGGAGAA	0.408																																						ENST00000393567.2																			0				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						c.(13723-13725)aGc>aTc		HYDIN, axonemal central pair apparatus protein							12	11	11					16																	70866926		1774	4001	5775	SO:0001583	missense	54768							g.chr16:70866926C>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.13724G>T	16.37:g.70866926C>A	ENSP00000377197:p.Ser4575Ile						p.S4575I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			80	13874	-		Ovarian(137;0.0654)	4575					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13724G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244960	0.39697	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.62	-0.853	0.10709	.	0.182103	0.24965	U	0.034191	T	0.01835	0.0058	M	0.78801	2.425	0.09310	N	1	B	0.32862	0.387	B	0.34418	0.182	T	0.38436	-0.9661	10	0.34782	T	0.22	.	8.4169	0.32676	0.0:0.4301:0.424:0.1459	.	4574	F8WD23	.	I	4575;4574	ENSP00000377197:S4575I	ENSP00000313052:S4574I	S	-	2	0	HYDIN	69424427	0.000000	0.05858	0.991000	0.47740	0.958000	0.62258	-0.587000	0.05780	0.231000	0.21079	0.511000	0.50034	AGC		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			27	85	1	0	4.92203e-23	1	5.16677e-23	27	85					A	70866926	C	A	70866926	3	1	3	1	0	0	0	0	1	0	0	0	7497	797	28	3	1669	3	HYDIN	16	70866926	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	66063890	70866926	19487827	102	355											
ADAD2	161931	broad.mit.edu	37	chr16	84228145	84228145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaaacagcaggcagcGctctctgccctctgctacat	10	15	2	0	rs541603528		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000315906.5	+	2	568	c.516G>A	c.(514-516)gcG>gcA	p.A172A	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A244A|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	172	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCAGGCAGCGCTCTCTGCCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18538	0.001		0.0	False		,,,				2504	0.0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(730-732)gcG>gcA		adenosine deaminase domain containing 2							43	39	41					16																	84228145		2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228145G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.516G>A	16.37:g.84228145G>A						RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A	p.A244A	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			3	825	+			172					B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.732G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	1.347	-0.592612	0.03799	.	.	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	0.000000	0.51477	D	0.000099	T	0.12050	0.0293	.	.	.	0.23791	N	0.996838	P	0.37997	0.614	B	0.29785	0.107	T	0.04825	-1.0924	8	0.87932	D	0	-25.5618	1.4709	0.02415	0.2479:0.1681:0.4182:0.1658	.	73	Q6ZW55	.	V	59	.	ENSP00000444170:A59V	A	-	2	0	AC009123.1	82785646	0.000000	0.05858	0.003000	0.11579	0.170000	0.22686	-3.759000	0.00373	-2.298000	0.00660	-1.291000	0.01355	GCG		0.642	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		36	31	0	0	0	1	0	36	31					A	84228145	G	A	84228145	2	1	3	1	0	0	0	0	0	0	0	1	232	1074	38	1		1	ADAD2	16	84228145	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	13361219	84228145	6126608	103	356											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		53	57	0	0	0	1	0	53	57					T	7577120	C	T	7577120	3	4	3	1	0	0	0	0	1	0	0	0	16434	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		7577120	73618090	104	357											
GUCY2D	3000	broad.mit.edu	37	chr17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtggtgcagagggtgcGgagcccccctccactgtgtc	15	12	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622																																						ENST00000254854.4																			0				skin(1)	1						c.(2281-2283)cGg>cAg		guanylate cyclase 2D, membrane (retina-specific)							76	78	78					17																	7917216		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917216G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2282G>A	17.37:g.7917216G>A	ENSP00000254854:p.Arg761Gln						p.R761Q	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			12	2432	+		Prostate(122;0.157)	761			Protein kinase.		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2282G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109704	0.37242	.	.	ENSG00000132518	ENST00000254854	D	0.82619	-1.63	5.44	-5.28	0.02755	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	T	0.71745	0.3376	L	0.48642	1.525	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.58405	-0.7642	10	0.45353	T	0.12	.	5.9913	0.19465	0.447:0.0:0.3698:0.1832	.	761	Q02846	GUC2D_HUMAN	Q	761	ENSP00000254854:R761Q	ENSP00000254854:R761Q	R	+	2	0	GUCY2D	7857941	0.000000	0.05858	0.462000	0.27118	0.976000	0.68499	-0.284000	0.08422	-0.603000	0.05767	-0.345000	0.07892	CGG		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			6	370	0	0	0	1	0	6	370					A	7917216	G	A	7917216	3	1	3	1	0	0	0	0	1	0	0	0	6927	1116	39	1	2324	1	GUCY2D	17	7917216	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	340096	7917216	73277994	105	358											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		9	346						9	346	---	---	---	---	-	18167780	GCT	-	18167778	7	5	3	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-2J-AAB6-01A-11D-A40W-08	10250562	18167778	63027432	106	359											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	421	0	0	0	1	0	5	421					C	33520392	G	C	33520392	3	2	3	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	15352614	33520392	47674818	107	360											
MRPL45	84311	broad.mit.edu	37	chr17	36478035	36478035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctatgaccggtttggCcggttgatgtatggacagga	14	8	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	229						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCGGTTTGGCCGGTTGATGT	0.438																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(685-687)ggC>ggT		mitochondrial ribosomal protein L45							120	113	115					17																	36478035		2203	4300	6503	SO:0001819	synonymous_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36478035C>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"Mitochondrial ribosomal proteins / large subunits"	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.687C>T	17.37:g.36478035C>T							p.G229G	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			7	848	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	229					A1L436|Q6ZMJ5	Silent	SNP	ENST00000312513.5	37	c.687C>T	CCDS11326.1																																																																																				0.438	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		5	417	0	0	0	1	0	5	417					T	36478035	C	T	36478035	2	4	3	1	0	0	0	0	0	0	0	1	9850	726	26	2		2	MRPL45	17	36478035	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	2957643	36478035	44717175	108	361											
STXBP4	252983	broad.mit.edu	37	chr17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgggaaggaatggaCgtagcatcccagcaacgctg	12	12	0	0	rs199941077	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	472					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGAATGGACGTAGCATCCC	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.0					ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1414-1416)Cgt>Tgt		syntaxin binding protein 4							136	123	127					17																	53158469		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53158469C>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1414C>T	17.37:g.53158469C>T	ENSP00000365530:p.Arg472Cys					STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	p.R472C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			16	1621	+			472					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1414C>T	CCDS11584.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.85	2.954687	0.53293	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.48201	0.82;0.82	5.47	4.5	0.54988	.	0.308438	0.36234	N	0.002705	T	0.50069	0.1594	M	0.63428	1.95	0.80722	D	1	D;D	0.60160	0.973;0.987	B;P	0.45610	0.325;0.487	T	0.58312	-0.7658	10	0.87932	D	0	-5.9541	13.5669	0.61824	0.1561:0.8439:0.0:0.0	.	450;472	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	C	472;450	ENSP00000365530:R472C;ENSP00000391087:R450C	ENSP00000365530:R472C	R	+	1	0	STXBP4	50513468	0.902000	0.30710	0.162000	0.22713	0.460000	0.32559	2.902000	0.48703	1.513000	0.48852	0.650000	0.86243	CGT		0.398	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		67	160	0	0	0	1	0	67	160					T	53158469	C	T	53158469	3	4	3	1	0	0	0	0	1	0	0	0	15407	536	19	1	1468	1	STXBP4	17	53158469	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	16680434	53158469	28036741	109	362											
RBBP8	5932	broad.mit.edu	37	chr18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A													cttctcttttacagcctgggINSaaaaaaaaacatctgaaaac					rs200956310		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														ENST00000399722.2																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)	ovary(2)|central_nervous_system(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1060-1065)ggaaaafs	Homologous recombination	retinoblastoma binding protein 8																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs	p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1413_1414	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		9	541						9	541	---	---	---	---	A	20572853	-	A	20572852	7	5	3	1	0	1	1	0	0	0	0	0	13155	1161	41	0	1100	0	RBBP8	18	20572852	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08		20572852	57504396	110	363											
AQP4	361	broad.mit.edu	37	chr18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactcataaaggccaccagCgaggacagctcctatgatgg	10	11	1	1	rs374302276		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	244					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGCCACCAGCGAGGACAGCT	0.433																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(730-732)Gct>Act		aquaporin 4		C	THR/ALA,THR/ALA	0,4406		0,0,2203	83	82	82		730,664	5.8	1	18		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AQP4	NM_001650.4,NM_004028.3	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	244/324,222/302	24436417	2,13004	2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436417C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.730G>A	18.37:g.24436417C>T	ENSP00000372654:p.Ala244Thr					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T	p.A244T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	858	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		244					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.730G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463024	0.96257	0.0	2.33E-4	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.96265	-3.96	5.84	5.84	0.93424	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.98652	1.0680	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	244	P55087	AQP4_HUMAN	T	244;224;140	ENSP00000372654:A244T	ENSP00000372654:A244T	A	-	1	0	AQP4	22690415	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	7.263000	0.78421	2.764000	0.94973	0.650000	0.86243	GCT		0.433	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		91	233	0	0	0	1	0	91	233					T	24436417	C	T	24436417	3	4	3	1	0	0	0	0	1	0	0	0	828	768	27	1	245	1	AQP4	18	24436417	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3863565	24436417	53640831	111	364											
ZNF554	115196	broad.mit.edu	37	chr19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtatttggaaaatgggCagtcattgaaccacggtatg	12	5	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGGCAGTCATTGAA	0.478																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(907-909)Cag>Tag		zinc finger protein 554							88	94	92					19																	2834140		2007	4165	6172	SO:0001587	stop_gained	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834140C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.907C>T	19.37:g.2834140C>T	ENSP00000321132:p.Gln303*					ZNF554_ENST00000591265.1_3'UTR	p.Q303*	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1105	+		Hepatocellular(1079;0.137)	303					Q8NAT3|Q9BWN3	Nonsense_Mutation	SNP	ENST00000317243.5	37	c.907C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673776	0.67928	.	.	ENSG00000172006	ENST00000317243	.	.	.	2.77	0.44	0.16572	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9143	0.05748	0.5402:0.2836:0.1762:0.0	.	.	.	.	X	303	.	ENSP00000321132:Q303X	Q	+	1	0	ZNF554	2785140	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.558000	0.23469	-0.062000	0.13088	-0.505000	0.04504	CAG		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		118	289	0	0	0	1	0	118	289					T	2834140	C	T	2834140	4	4	3	1	0	0	0	0	0	1	0	0	18038	711	25	2	925	2	ZNF554	19	2834140	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		2834140	56294843	112	365											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	250						7	250	---	---	---	---	-	11038364	GCT	-	11038362	7	5	3	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-2J-AAB6-01A-11D-A40W-08	8204222	11038362	48090621	113	366											
CCDC105	126402	broad.mit.edu	37	chr19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatgggtgaacctctccCgagcccccactccacgcaca	7	19	2	1	rs372493151		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	269						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAACCTCTCCCGAGCCCCCAC	0.597																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(805-807)Cga>Tga		coiled-coil domain containing 105		C	stop/ARG	0,4406		0,0,2203	55	51	52		805	-1.6	0.2	19		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CCDC105	NM_173482.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		269/500	15131402	1,13005	2203	4300	6503	SO:0001587	stop_gained	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131402C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.805C>T	19.37:g.15131402C>T	ENSP00000292574:p.Arg269*						p.R269*	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	887	+			269					Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	ENST00000292574.3	37	c.805C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528521	0.64860	0.0	1.16E-4	ENSG00000160994	ENST00000292574	.	.	.	4.09	-1.59	0.08453	.	0.492673	0.16678	N	0.204050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9272	5.0347	0.14428	0.5189:0.3698:0.0:0.1113	.	.	.	.	X	269	.	ENSP00000292574:R269X	R	+	1	2	CCDC105	14992402	0.001000	0.12720	0.185000	0.23176	0.317000	0.28152	-0.171000	0.09883	-0.391000	0.07763	0.558000	0.71614	CGA		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		35	106	0	0	0	1	0	35	106					T	15131402	C	T	15131402	4	4	3	1	0	0	0	0	0	1	0	0	2747	644	23	1	815	1	CCDC105	19	15131402	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4093040	15131402	43997581	114	367											
ZNF99	7652	broad.mit.edu	37	chr19	22940908	22940908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctgagaagtggttaaaAgctttgccacattcttcaca	10	8	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000596209.1	-	4	1893	c.1803T>C	c.(1801-1803)gcT>gcC	p.A601A	ZNF99_ENST00000397104.3_Silent_p.A510A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTGGTTAAAAGCTTTGCCAC	0.378																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1528-1530)gcT>gcC		zinc finger protein 99							42	47	45					19																	22940908		2045	4238	6283	SO:0001819	synonymous_variant	7652							g.chr19:22940908A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1803T>C	19.37:g.22940908A>G						ZNF99_ENST00000596209.1_Silent_p.A601A	p.A510A							5	1529	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1530T>C	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		74	174	0	0	0	1	0	74	174					G	22940908	A	G	22940908	2	3	3	1	0	0	0	0	0	0	0	1	18257	59	3	4		4	ZNF99	19	22940908	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	7809506	22940908	36188075	115	368											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1545						7	1545	---	---	---	---	-	36054351	CTT	-	36054349	7	5	3	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-2J-AAB6-01A-11D-A40W-08	13113441	36054349	23074634	116	369											
TYROBP	7305	broad.mit.edu	37	chr19	36399086	36399086	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaccacttacagccagcagGagaggcaggagcaggagcct	13	12	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000262629.4	-	1	111	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000585901.2_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	15					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCAGCAGGAGAGGCAGGA	0.657																																						ENST00000585901.2																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(43-45)ctC>ctA		TYRO protein tyrosine kinase binding protein							39	38	39					19																	36399086		2203	4300	6503	SO:0001819	synonymous_variant	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36399086G>T	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"killer activating receptor associated protein", "DNAX-activation protein 12"	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.45C>A	19.37:g.36399086G>T						TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L	p.L15L			O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	63	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		15					A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	ENST00000262629.4	37	c.45C>A	CCDS12482.1																																																																																				0.657	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			7	180	1	0	0.00307968	1	0.00309597	7	180					T	36399086	G	T	36399086	2	4	3	1	0	0	0	0	0	0	0	1	16869	1161	41	3		3	TYROBP	19	36399086	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	344737	36399086	22729897	117	370											
ZNF585A	199704	broad.mit.edu	37	chr19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatcttttcaaatttggCgcattcataagctttctccc	5	10	4	0	rs533790578		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATTTGGCGCATTCATAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.001					ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(397-399)Gcc>Acc		zinc finger protein 585A							160	160	160					19																	37644404		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644404C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.397G>A	19.37:g.37644404C>T	ENSP00000349440:p.Ala133Thr					ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron	p.A133T			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	655	-			133					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	C	9.121	1.009054	0.19199	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.35789	1.29;1.29;1.29;1.67	2.95	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224693	0.22663	U	0.057163	T	0.11067	0.0270	N	0.01742	-0.745	0.09310	N	1	B	0.26935	0.164	B	0.20577	0.03	T	0.23048	-1.0199	10	0.20046	T	0.44	.	5.5634	0.17157	0.2297:0.5464:0.2238:0.0	.	133	Q6P3V2	Z585A_HUMAN	T	133;78;78;78	ENSP00000349440:A133T;ENSP00000292841:A78T;ENSP00000375998:A78T;ENSP00000347724:A78T	ENSP00000292841:A78T	A	-	1	0	ZNF585A	42336244	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-4.249000	0.00266	0.770000	0.33336	0.655000	0.94253	GCC		0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		6	877	0	0	0	1	0	6	877					T	37644404	C	T	37644404	3	4	3	1	0	0	0	0	1	0	0	0	18070	768	27	1	1916	1	ZNF585A	19	37644404	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1245318	37644404	21484579	118	371											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1039	0	0	0	1	0	8	1039					A	40395919	G	A	40395919	3	1	3	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	2751515	40395919	18733064	119	372											
BCKDHA	593	broad.mit.edu	37	chr19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcttaacaccatggaccGcatcctctatgagtctcagc	7	14	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(349-351)cGc>cAc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144	131	136					19																	41916889		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916889G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.350G>A	19.37:g.41916889G>A	ENSP00000269980:p.Arg117His					CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	p.R117H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			3	718	+			117					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.350G>A	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.349762|5.349762	0.95830|0.95830	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000457836;ENST00000378196	.|D;D;D	.|0.99194	.|-5.54;-5.54;-5.54	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.69078	.|0.997;0.49;0.986;0.129	.|D;B;P;B	.|0.64144	.|0.922;0.041;0.751;0.043	D|D	0.99620|0.99620	1.0983|1.0983	5|10	.|0.45353	.|T	.|0.12	-22.6744|-22.6744	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;117;117;151	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	T|H	53|151;117;95;117	.|ENSP00000443246:R151H;ENSP00000269980:R117H;ENSP00000416000:R95H	.|ENSP00000269980:R117H	A|R	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46608729|46608729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.252000|9.252000	0.95491|0.95491	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	966	0	0	0	1	0	7	966					A	41916889	G	A	41916889	3	1	3	1	0	0	0	0	1	0	0	0	1360	1087	38	1	360	1	BCKDHA	19	41916889	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	1520970	41916889	17212094	120	373											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		8	987	0	0	0	1	0	8	987					T	42132119	C	T	42132119	3	4	3	1	0	0	0	0	1	0	0	0	3203	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	215230	42132119	16996864	121	374											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		9	740						9	740	---	---	---	---	-	42753151	GAA	-	42753149	7	5	3	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-2J-AAB6-01A-11D-A40W-08	621030	42753149	16375834	122	375											
BCL3	602	broad.mit.edu	37	chr19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-													cctcctcaccctcccagtctCcccccagggacccccctgga							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:45262726delC	ENST00000164227.5	+	9	1463	c.1219delC	c.(1219-1221)cccfs	p.P408fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCCCAGTCTCCCCCCAGGGA	0.627			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1219-1221)ccfs		B-cell CLL/lymphoma 3							199	212	208					19																	45262726		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262726delC	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1219delC	19.37:g.45262726delC	ENSP00000164227:p.Pro408fs						p.P408fs	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1463	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	408			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1219delC	CCDS12642.2																																																																																				0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	2227						7	2227	---	---	---	---	-	45262726	C	-	45262726	7	5	3	1	0	1	0	1	0	0	0	0	1376	855	30	0	1253	0	BCL3	19	45262726	Frame_Shift_Del	DEL	C	TCGA-2J-AAB6-01A-11D-A40W-08	2509577	45262726	13866257	123	376											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		12	126						12	126	---	---	---	---	-	45381751	GAG	-	45381749	6	5	3	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-2J-AAB6-01A-11D-A40W-08	119023	45381749	13747234	124	377											
RSPH6A	81492	broad.mit.edu	37	chr19	46307741	46307741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagttggcctcgttgccCgggaagggtgggtagctgac	18	8	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTCGTTGCCCGGGAAGGGTG	0.632																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1420-1422)ccG>ccA		radial spoke head 6 homolog A (Chlamydomonas)							73	60	65					19																	46307741		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46307741C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1422G>A	19.37:g.46307741C>T						RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	p.P474P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			3	1564	-			474					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1422G>A	CCDS12675.1																																																																																				0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			54	329	0	0	0	1	0	54	329					T	46307741	C	T	46307741	2	4	3	1	0	0	0	0	0	0	0	1	13757	639	23	1		1	RSPH6A	19	46307741	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	925992	46307741	12821242	125	378											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	797						7	797	---	---	---	---	-	47572403	CTC	-	47572401	7	5	3	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-2J-AAB6-01A-11D-A40W-08	1264660	47572401	11556582	126	379											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggctcctcgccctccGcatctggagtccagagtgga	13	15	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45	39	41					19																	49362745		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362745G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp					PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1228	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	225			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.673C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			181	149	0	0	0	1	0	181	149					A	49362745	G	A	49362745	3	1	3	1	0	0	0	0	1	0	0	0	12100	1086	38	1	1722	1	PLEKHA4	19	49362745	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	1790344	49362745	9766238	127	380											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccacggtctgtccccAccgggtccagctcagcctgg	14	17	2	0	rs201935510	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31	37	35					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	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.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		7	406	0	0	0	1	0	7	406					C	50462047	A	C	50462047	3	2	3	1	0	0	0	0	1	0	0	0	14357	159	6	4	900	4	SIGLEC11	19	50462047	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	1099302	50462047	8666936	128	381											
SIGLEC6	946	broad.mit.edu	37	chr19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggaagtgtaggacagCgtagtggagctcctgctcat	14	8	1	0	rs200754981		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000425629.3	-	8	1433	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	SIGLEC6_ENST00000474054.1_5'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A411T|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	427					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTAGGACAGCGTAGTGGAGC	0.507																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1231-1233)Gct>Act		sialic acid binding Ig-like lectin 6		C	THR/ALA,,,THR/ALA,THR/ALA,	0,4008		0,0,2004	212	204	207		1123,,,1279,1231,	2.6	0	19		207	5,8373		0,5,4184	yes	missense,utr-3,utr-3,missense,missense,utr-3	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	58,,,58,58,	0,5,6188	TT,TC,CC		0.0597,0.0,0.0404	benign,,,benign,benign,	375/402,,,427/454,411/438,	52023419	5,12381	2004	4189	6193	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023419C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1279G>A	19.37:g.52023419C>T	ENSP00000401502:p.Ala427Thr					SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA	p.A411T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1299	-		all_neural(266;0.0199)	427					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1231G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081368	0.36758	0.0	5.97E-4	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.09630	2.96;2.96	2.57	2.57	0.30868	.	.	.	.	.	T	0.33206	0.0855	M	0.84948	2.725	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.955;0.994;0.955	T	0.03212	-1.1060	9	0.87932	D	0	.	8.7521	0.34622	0.0:1.0:0.0:0.0	.	375;411;427	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	T	400;411;427;375	ENSP00000401502:A427T;ENSP00000410679:A375T	ENSP00000344064:A400T	A	-	1	0	SIGLEC6	56715231	0.165000	0.22948	0.028000	0.17463	0.009000	0.06853	1.102000	0.31050	1.726000	0.51525	0.609000	0.83330	GCT		0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		503	572	0	0	0	1	0	503	572					T	52023419	C	T	52023419	3	4	3	1	0	0	0	0	1	0	0	0	14362	768	27	1	86	1	SIGLEC6	19	52023419	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1561372	52023419	7105564	129	382											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctccttggcgtttcaCctgacaggtgaggttggtgc	14	10	1	3	rs111981406	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6																			2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85	81	82					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met					SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	p.V215M	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		5	339	0	0	0	1	0	5	339					T	52149092	C	T	52149092	3	4	3	1	0	0	0	0	1	0	0	0	14359	507	18	2	567	2	SIGLEC14	19	52149092	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	125673	52149092	6979891	130	383											
FPR1	2357	broad.mit.edu	37	chr19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttggtggcaataagccCataactgacagcaacgatgg	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(664-666)Ggg>Agg		formyl peptide receptor 1	Nedocromil(DB00716)						122	110	114					19																	52249584		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249584C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.664G>A	19.37:g.52249584C>T	ENSP00000471493:p.Gly222Arg					FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	805	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	222					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.664G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878537	0.33162	.	.	ENSG00000171051	ENST00000304748	T	0.72725	-0.68	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.431534	0.23098	N	0.051955	D	0.85465	0.5703	M	0.94063	3.49	0.30381	N	0.781935	D	0.89917	1.0	D	0.87578	0.998	T	0.82550	-0.0401	10	0.62326	D	0.03	.	7.6654	0.28428	0.0:0.8765:0.0:0.1235	.	222	P21462	FPR1_HUMAN	R	222	ENSP00000302707:G222R	ENSP00000302707:G222R	G	-	1	0	FPR1	56941396	0.000000	0.05858	0.484000	0.27391	0.048000	0.14542	0.029000	0.13666	1.956000	0.56807	0.650000	0.86243	GGG		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		249	274	0	0	0	1	0	249	274					T	52249584	C	T	52249584	3	4	3	1	0	0	0	0	1	0	0	0	6065	594	21	2	392	2	FPR1	19	52249584	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	100492	52249584	6879399	131	384											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	7	7	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22	21	21					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G						ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	397	0	0	0	1	0	8	397					G	53855452	A	G	53855452	2	3	3	1	0	0	0	0	0	0	0	1	18244	117	5	4		4	ZNF845	19	53855452	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	1605868	53855452	5273531	132	385											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			13	545						13	545	---	---	---	---	-	54675749	TCC	-	54675747	7	5	3	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AAB6-01A-11D-A40W-08	820295	54675747	4453236	133	386											
MYL9	10398	broad.mit.edu	37	chr20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagctgctcaccaccAtgggtgaccgcttcacagat	11	14	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	130	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCACCACCATGGGTGACCG	0.577																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(388-390)Atg>Gtg		myosin, light chain 9, regulatory							96	83	87					20																	35177521		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177521A>G	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.388A>G	20.37:g.35177521A>G	ENSP00000279022:p.Met130Val					MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.M130V	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	492	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	130			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.388A>G	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690061	0.68271	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78595	-1.19;-1.01	4.7	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.48642	1.525	0.30375	N	0.782556	P;B	0.36392	0.551;0.006	P;B	0.44394	0.448;0.004	T	0.71563	-0.4555	10	0.19590	T	0.45	.	13.3054	0.60349	1.0:0.0:0.0:0.0	.	76;130	Q9BUF9;P24844	.;MYL9_HUMAN	V	130;76	ENSP00000279022:M130V;ENSP00000217313:M76V	ENSP00000279022:M130V	M	+	1	0	MYL9	34610935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.236000	0.95360	1.880000	0.54463	0.533000	0.62120	ATG		0.577	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		111	199	0	0	0	1	0	111	199					G	35177521	A	G	35177521	3	3	3	1	0	0	0	0	1	0	0	0	10095	217	8	4	398	4	MYL9	20	35177521	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		35177521	27847999	134	387											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	17	4	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164	128	140					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			4	164	0	0	0	1	0	4	164					T	44258532	A	T	44258532	3	4	3	1	0	0	0	0	1	0	0	0	17401	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	9081011	44258532	18766988	135	388											
ZNF334	55713	broad.mit.edu	37	chr20	45130985	45130985	+	Frame_Shift_Del	DEL	A	A	-													tcagccagggctgacttccgAaaaaaggtctttccacattc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:45130985delA	ENST00000347606.4	-	5	1175	c.993delT	c.(991-993)tttfs	p.F331fs	ZNF334_ENST00000457685.2_Frame_Shift_Del_p.F293fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.F354fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	331					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTGACTTCCGAAAAAAGGTCT	0.438																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(877-879)ttfs		zinc finger protein 334							121	125	123					20																	45130985		2201	4300	6501	SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130985delA	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.993delT	20.37:g.45130985delA	ENSP00000255129:p.Phe331fs					ZNF334_ENST00000347606.4_Frame_Shift_Del_p.F331fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.F354fs	p.F293fs			Q9HCZ1	ZN334_HUMAN			6	2202	-		Myeloproliferative disorder(115;0.0122)	331					Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	c.879delT	CCDS33480.1																																																																																				0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			7	931						7	931	---	---	---	---	-	45130985	A	-	45130985	7	5	3	1	0	1	0	1	0	0	0	0	17904	243	9	0	1053	0	ZNF334	20	45130985	Frame_Shift_Del	DEL	A	TCGA-2J-AAB6-01A-11D-A40W-08	872453	45130985	17894535	136	389											
MYT1	4661	broad.mit.edu	37	chr20	62848481	62848482	+	Frame_Shift_Ins	INS	-	-	C													gagctaccggcccaacgtggINScccccgccacacccagggcc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:62848481_62848482insC	ENST00000328439.1	+	11	2057_2058	c.1693_1694insC	c.(1693-1695)gccfs	p.A565fs	MYT1_ENST00000536311.1_Frame_Shift_Ins_p.A565fs|MYT1_ENST00000360149.4_Frame_Shift_Ins_p.A267fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCACA	0.594																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1693-1695)cccfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848481_62848482insC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1698dupC	20.37:g.62848486_62848486dupC	ENSP00000327465:p.Ala565fs					MYT1_ENST00000360149.4_Frame_Shift_Ins_p.P267fs|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.P565fs	p.P565fs			Q01538	MYT1_HUMAN			11	2057_2058	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		565					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	c.1693_1694insC	CCDS13558.1																																																																																				0.594	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		7	924						7	924	---	---	---	---	C	62848482	-	C	62848481	7	5	3	1	0	1	1	0	0	0	0	0	10147	1203	42	0	1727	0	MYT1	20	62848481	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08	17717496	62848481	177039	137	390											
TPTE	7179	broad.mit.edu	37	chr21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagctagagaaatagaaCgatactccaaaggaatataa	7	6	0	2	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000298232.7_Missense_Mutation_p.R109H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338																																						ENST00000298232.7																			1	Substitution - Missense(1)	p.R109H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(325-327)cGt>cAt		transmembrane phosphatase with tensin homology		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99	107	104		326,266,380	0.9	0	21	dbSNP_132	104	1,8593		0,1,4296	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	109/534,89/514,127/552	10951332	1,12999	2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951332C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.380G>A	21.37:g.10951332C>T	ENSP00000355208:p.Arg127His					TPTE_ENST00000361285.4_Missense_Mutation_p.R127H|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR	p.R109H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	693	-			127					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.326G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			67	654	0	0	0	1	0	67	654					T	10951332	C	T	10951332	3	4	3	1	0	0	0	0	1	0	0	0	16483	536	19	1	1335	1	TPTE	21	10951332	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		10951332	37178563	138	391											
ITGB2	3689	broad.mit.edu	37	chr21	46306690	46306690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctccttctcaaagcgCctgtactcccggaggtcgct	9	15	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	736					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(2206-2208)agG>agA		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						100	83	89					21																	46306690		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46306690C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2208G>A	21.37:g.46306690C>T						ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R	p.R736R			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	16	2660	-			736					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.2208G>A	CCDS13716.1																																																																																				0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		71	186	0	0	0	1	0	71	186					T	46306690	C	T	46306690	2	4	3	1	0	0	0	0	0	0	0	1	7924	738	26	2		2	ITGB2	21	46306690	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	35355358	46306690	1823205	139	392											
SGSM1	129049	broad.mit.edu	37	chr22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagcccaagatccccaAtgggaacctagtgaacggca	10	12	0	2	rs373981289		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400359.4	+	20	2271	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SGSM1_ENST00000400358.4_Missense_Mutation_p.N700S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	755	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGATCCCCAATGGGAACCTA	0.552																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2098-2100)aAt>aGt		small G protein signaling modulator 1		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4072		0,0,2036	66	77	74		2264,2099,1916,2081	3.1	1	22		74	1,8387		0,1,4193	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	46,46,46,46	0,1,6229	GG,GA,AA		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging	755/1149,700/1094,639/1033,694/1088	25294015	1,12459	2036	4194	6230	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294015A>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2264A>G	22.37:g.25294015A>G	ENSP00000383212:p.Asn755Ser					SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S	p.N700S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2156	+			755			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2099A>G	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946679	0.18356	0.0	1.19E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06608	3.29;3.28	5.24	3.13	0.36017	Rab-GAP/TBC domain (2);	0.054567	0.64402	U	0.000001	T	0.05640	0.0148	N	0.25890	0.77	0.50467	D	0.999874	P;P;P;P	0.50369	0.571;0.934;0.914;0.85	B;P;P;P	0.49276	0.121;0.53;0.605;0.449	T	0.33214	-0.9877	10	0.05351	T	0.99	-9.6086	8.7962	0.34881	0.8466:0.0:0.1534:0.0	.	700;755;772;755	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	755;700;755	ENSP00000383211:N700S;ENSP00000383212:N755S	ENSP00000383211:N700S	N	+	2	0	SGSM1	23624015	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.392000	0.59659	0.419000	0.25927	0.482000	0.46254	AAT		0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		68	61	0	0	0	1	0	68	61					G	25294015	A	G	25294015	3	3	3	1	0	0	0	0	1	0	0	0	14272	101	4	4	2342	4	SGSM1	22	25294015	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		25294015	26010551	140	393											
MN1	4330	broad.mit.edu	37	chr22	28194939	28194939	+	Silent	SNP	C	C	T													tgctgctgctgctgttgctgCtgctgctgctgctgctgctg							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	531	Poly-Gln.				intramembranous ossification (GO:0001957)					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						gctgttgctgctgctgctgct	0.652			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(1591-1593)caG>caA		meningioma (disrupted in balanced translocation) 1							4	6	5					22																	28194939		1796	3654	5450	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194939C>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.1593G>A	22.37:g.28194939C>T							p.Q531Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2547	-			531			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1593G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	18	0	0	0	1	0	10	18					T	28194939	C	T	28194939	2	4	3	1	0	0	0	0	0	0	0	1	9714	796	28	2		2	MN1	22	28194939	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	2900924	28194939	23109627	141	394	6	2									
MN1	4330	broad.mit.edu	37	chr22	28194945	28194945	+	Silent	SNP	C	C	T													tgctgctgttgctgctgctgCtgctgctgctgctgctgttg							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)					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						gctgctgctgctgctgctgct	0.647			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(1585-1587)caG>caA		meningioma (disrupted in balanced translocation) 1							3	5	4					22																	28194945		1291	2827	4118	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194945C>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.1587G>A	22.37:g.28194945C>T							p.Q529Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2541	-			529			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1587G>A	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		14	18	0	0	0	1	0	14	18					T	28194945	C	T	28194945	2	4	3	1	0	0	0	0	0	0	0	1	9714	796	28	2		2	MN1	22	28194945	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	6	28194945	23109621	142	395	6	2									
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcttgttctttggtgtaaCggttggcctgggacagtggg	15	6	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	776						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGGTGTAACGGTTGGCCTG	0.507																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2326-2328)cGt>cAt		eukaryotic translation initiation factor 4E nuclear import factor 1							261	250	253					22																	31837984		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31837984C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2327G>A	22.37:g.31837984C>T	ENSP00000380659:p.Arg776His					EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H	p.R776H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			17	2550	-			776					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2327G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419760	0.83559	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	6.17	0.99709	.	0.276957	0.42053	D	0.000777	T	0.77942	0.4206	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D	0.89917	0.988;1.0;0.975;0.999	P;D;P;D	0.78314	0.483;0.991;0.482;0.948	T	0.72871	-0.4161	9	0.35671	T	0.21	-4.8798	19.8676	0.96824	0.0:1.0:0.0:0.0	.	602;776;601;752	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	602;776;776;752;431	.	ENSP00000328103:R776H	R	-	2	0	EIF4ENIF1	30167984	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.410000	0.59774	2.941000	0.99782	0.655000	0.94253	CGT		0.507	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		224	206	0	0	0	1	0	224	206					T	31837984	C	T	31837984	3	4	3	1	0	0	0	0	1	0	0	0	5053	536	19	1	642	1	EIF4ENIF1	22	31837984	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3643039	31837984	19466582	143	396											
EFCAB6	64800	broad.mit.edu	37	chr22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaatgtgcccttttccctCggtgtcgtatcttaaaacaa	7	10	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428																																						ENST00000262726.7																			1	Substitution - Missense(1)	p.E898K(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2692-2694)Gag>Aag		EF-hand calcium binding domain 6							112	115	114					22																	43996133		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43996133C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2692G>A	22.37:g.43996133C>T	ENSP00000262726:p.Glu898Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	p.E898K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			23	2945	-		Ovarian(80;0.0247)|all_neural(38;0.025)	898			EF-hand 10.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2692G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07800	3.16;3.16	5.0	2.86	0.33363	EF-hand-like domain (1);	0.251434	0.29940	N	0.010811	T	0.07999	0.0200	L	0.59436	1.845	0.22468	N	0.999077	P;D	0.56746	0.897;0.977	B;B	0.39465	0.196;0.3	T	0.31779	-0.9931	10	0.25751	T	0.34	-28.7596	9.1154	0.36755	0.0:0.8248:0.0:0.1752	.	746;898	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	746;898	ENSP00000379533:E746K;ENSP00000262726:E898K	ENSP00000262726:E898K	E	-	1	0	EFCAB6	42327466	0.060000	0.20803	0.872000	0.34217	0.680000	0.39746	1.029000	0.30140	1.333000	0.45449	0.655000	0.94253	GAG		0.428	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		138	406	0	0	0	1	0	138	406					T	43996133	C	T	43996133	3	4	3	1	0	0	0	0	1	0	0	0	4955	893	31	1	1853	1	EFCAB6	22	43996133	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	12158149	43996133	7308433	144	397											
LMF2	91289	broad.mit.edu	37	chr22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacagctacttctttcgcCgggtggtcctcgaactactg	9	13	1	0	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000474879.2	-	14	2126	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	LMF2_ENST00000216080.5_Missense_Mutation_p.R679Q|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTTTCGCCGGGTGGTCCT	0.672													c|||	1	0.000199681	0.0	0.0	5008	,	,		13642	0.0		0.001	False		,,,				2504	0.0					ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(2035-2037)cGg>cAg		lipase maturation factor 2		C	GLN/ARG	1,4313		0,1,2156	28	26	27		2111	5.1	1	22	dbSNP_134	27	0,8452		0,0,4226	no	missense	LMF2	NM_033200.2	43	0,1,6382	TT,TC,CC		0.0,0.0232,0.0078	probably-damaging	704/708	50941833	1,12765	2157	4226	6383	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941833C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2111G>A	22.37:g.50941833C>T	ENSP00000424381:p.Arg704Gln					LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q	p.R679Q			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2204	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	704					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.2036G>A	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543489	0.65198	2.32E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.41758	0.99;1.65;1.64	5.14	5.14	0.70334	.	0.512980	0.18854	N	0.129333	T	0.61048	0.2316	M	0.71581	2.175	0.23356	N	0.997846	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.55995	-0.8052	10	0.62326	D	0.03	-0.3442	14.4462	0.67352	0.0:1.0:0.0:0.0	.	704;679	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	Q	591;704;679	ENSP00000370173:R591Q;ENSP00000424381:R704Q;ENSP00000216080:R679Q	ENSP00000216080:R679Q	R	-	2	0	LMF2	49288699	0.435000	0.25577	0.972000	0.41901	0.066000	0.16364	1.010000	0.29898	2.549000	0.85964	0.491000	0.48974	CGG		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		40	112	0	0	0	1	0	40	112					T	50941833	C	T	50941833	3	4	3	1	0	0	0	0	1	0	0	0	8879	652	23	1	16	1	LMF2	22	50941833	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	6945700	50941833	362733	145	398											
CXorf59	286464	broad.mit.edu	37	chrX	36090000	36090000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctccctaccaggatgcTaaaccaccctctcctgcttc	5	18	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:36090000T>C	ENST00000313548.4	+	3	288	c.102T>C	c.(100-102)gcT>gcC	p.A34A		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	34						integral component of membrane (GO:0016021)											ACCAGGATGCTAAACCACCCT	0.378																																						ENST00000378660.1																			0											c.(100-102)gcT>gcC		calponin homology domain containing 2							93	78	83					X																	36090000		2202	4300	6502	SO:0001819	synonymous_variant	286464							g.chrX:36090000T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.102T>C	X.37:g.36090000T>C						CHDC2_ENST00000313548.4_Silent_p.A34A	p.A34A							3	290	+									Silent	SNP	ENST00000313548.4	37	c.102T>C	CCDS14238.1																																																																																				0.378	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		48	46	0	0	0	1	0	48	46					C	36090000	T	C	36090000	2	2	3	1	0	0	0	0	0	0	0	1	4126	1509	53	4		4	CXorf59	23	36090000	Silent	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08		36090000	119180560	146	399											
CACNA1F	778	broad.mit.edu	37	chrX	49063557	49063557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgggatggtgaaaatgaGagccccagagcctctcctgg	13	10	2	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1725					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAAATGAGAGCCCCAGAG	0.547																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5173-5175)Ctc>Gtc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						114	79	91					X																	49063557		2201	4296	6497	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063557G>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5173C>G	X.37:g.49063557G>C	ENSP00000365441:p.Leu1725Val					CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	p.L1725V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			44	5234	-			1725					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5173C>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	2.789	-0.251861	0.05829	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	3.97	-0.788	0.10939	.	16.143700	0.00166	N	0.000000	D	0.89795	0.6818	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.001	B;B	0.22152	0.038;0.001	D	0.83992	0.0338	10	0.15499	T	0.54	.	7.2841	0.26328	0.4927:0.0:0.5073:0.0	.	1714;1725	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1660;1714;1725	ENSP00000365427:L1660V;ENSP00000321618:L1714V;ENSP00000365441:L1725V	ENSP00000321618:L1714V	L	-	1	0	CACNA1F	48950501	0.029000	0.19370	0.052000	0.19188	0.992000	0.81027	-0.100000	0.10990	-0.292000	0.08999	0.529000	0.55759	CTC		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		16	5	0	0	0	1	0	16	5					C	49063557	G	C	49063557	3	2	3	1	0	0	0	0	1	0	0	0	2550	942	33	5	780	5	CACNA1F	23	49063557	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	12973557	49063557	106207003	147	400											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	94						9	94	---	---	---	---	-	72433666	TCC	-	72433664	7	5	3	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-2J-AAB6-01A-11D-A40W-08	23370107	72433664	82836896	148	401											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		14	515						14	515	---	---	---	---	-	149639635	GCA	-	149639633	7	5	3	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2J-AAB6-01A-11D-A40W-08	77205969	149639633	5630927	149	402											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		9	940						9	940	---	---	---	---	-	149984526	GTG	-	149984524	7	5	3	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-2J-AAB6-01A-11D-A40W-08	344891	149984524	5286036	150	403											
WDR8	49856	broad.mit.edu	37	chr1	3549997	3549998	+	Frame_Shift_Ins	INS	-	-	C													cgggagagggccggccccggINScccggggcggcgggaaggag							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:3549997_3549998insC	ENST00000270708.7	-	9	959_960	c.886_887insG	c.(886-888)gccfs	p.A296fs	WRAP73_ENST00000378322.3_Frame_Shift_Ins_p.A296fs	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	296						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						gccggccccggcccggggcggc	0.569																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(886-888)cggfs		WD repeat containing, antisense to TP73																																				SO:0001589	frameshift_variant	49856					centrosome	protein binding	g.chr1:3549997_3549998insC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.887dupG	1.37:g.3550000_3550000dupC	ENSP00000270708:p.Ala296fs					WRAP73_ENST00000270708.7_Frame_Shift_Ins_p.R296fs	p.R296fs			Q9P2S5	WRP73_HUMAN			9	944_945	-			296					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Frame_Shift_Ins	INS	ENST00000270708.7	37	c.886_887insG	CCDS48.1																																																																																				0.569	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			8	174						8	174	---	---	---	---	C	3549998	-	C	3549997	7	5	4	1	0	1	1	0	0	0	0	0	17383	1203	42	0	511	0	WDR8	1	3549997	Frame_Shift_Ins	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08		3549997	245700624	1	404											
CAMTA1	23261	broad.mit.edu	37	chr1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcagtctgtccccgagaCactcagccccagtgaaggag	11	13	2	2	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GTCCCCGAGACACTCAGCCCC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(3856-3858)aCa>aTa		calmodulin binding transcription activator 1		C	ILE/THR	0,4406		0,0,2203	57	55	56		3857	4.1	1	1	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense	CAMTA1	NM_015215.2	89	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1286/1674	7798217	2,13004	2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798217C>T	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.3857C>T	1.37:g.7798217C>T	ENSP00000306522:p.Thr1286Ile					CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	p.T1286I	NM_015215.2	NP_056030.1	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)	16	4064	+	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)	1286					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3857C>T	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220885|2.220885	0.39201|0.39201	0.0|0.0	2.33E-4|2.33E-4	ENSG00000171735|ENSG00000171735	ENST00000495233|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	.|T;T	.|0.21191	.|2.03;2.02	5.06|5.06	4.13|4.13	0.48395|0.48395	.|.	.|0.382752	.|0.30732	.|N	.|0.008991	T|T	0.16854|0.16854	0.0405|0.0405	L|L	0.36672|0.36672	1.1|1.1	0.33546|0.33546	D|D	0.595455|0.595455	.|B;B;B;B	.|0.31599	.|0.33;0.112;0.138;0.183	.|B;B;B;B	.|0.23716	.|0.048;0.01;0.013;0.016	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.34782	.|T	.|0.22	-0.2018|-0.2018	15.0419|15.0419	0.71796|0.71796	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|1286;373;242;1286	.|Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;.;CMTA1_HUMAN	Y|I	243|1286;1286;373;242	.|ENSP00000306522:T1286I;ENSP00000402561:T1286I	.|ENSP00000306522:T1286I	H|T	+|+	1|2	0|0	CAMTA1|CAMTA1	7720804|7720804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.644000|3.644000	0.54381|0.54381	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		5	195	0	0	0	1	0	5	195					T	7798217	C	T	7798217	3	4	4	1	0	0	0	0	1	0	0	0	2620	478	17	2	3919	2	CAMTA1	1	7798217	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	4248220	7798217	241452404	2	405											
PTCHD2	57540	broad.mit.edu	37	chr1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaccaatccgtgctgTgctgggctggtgctcttcct	11	14	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	73					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCGTGCTGTGCTGGGCTGG	0.627																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(217-219)tgT>tgG		patched domain containing 2							80	82	81					1																	11561268		2099	4220	6319	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561268T>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.219T>G	1.37:g.11561268T>G	ENSP00000294484:p.Cys73Trp					PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	357	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	73					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.219T>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335812	0.60853	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26223	1.75;1.75	5.91	-8.89	0.00785	.	0.141145	0.47455	U	0.000239	T	0.26122	0.0637	N	0.24115	0.695	0.50039	D	0.999844	D	0.63880	0.993	P	0.55923	0.787	T	0.53865	-0.8378	10	0.87932	D	0	-15.4806	20.8583	0.99727	0.0:0.6554:0.0:0.3446	.	73	Q9P2K9	PTHD2_HUMAN	W	73	ENSP00000294484:C73W;ENSP00000374226:C73W	ENSP00000294484:C73W	C	+	3	2	PTCHD2	11483855	0.014000	0.17966	0.389000	0.26208	0.982000	0.71751	-1.193000	0.03049	-1.737000	0.01350	-0.250000	0.11733	TGT		0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		10	291	0	0	0	1	0	10	291					G	11561268	T	G	11561268	3	3	4	1	0	0	0	0	1	0	0	0	12780	1702	59	4	221	4	PTCHD2	1	11561268	Missense_Mutation	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	3763051	11561268	237689353	3	406											
HIVEP3	59269	broad.mit.edu	37	chr1	42048455	42048455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagagatgggctttgCgatctgaagctctgagcagt	14	9	2	3	rs201109287		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:42048455C>T	ENST00000372583.1	-	4	2899	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A672T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	672	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGGGCTTTGCGATCTGAAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19315	0.001		0.0	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2014-2016)Gca>Aca		human immunodeficiency virus type I enhancer binding protein 3							122	123	122					1																	42048455		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048455C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2014G>A	1.37:g.42048455C>T	ENSP00000361664:p.Ala672Thr					HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A672T	p.A672T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3028	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	672			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2014G>A	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.10	1.539311	0.27475	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.48	-7.9	0.01169	.	0.893166	0.09602	N	0.780113	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.41466	-0.9507	10	0.10636	T	0.68	8.1316	4.0533	0.09804	0.1904:0.4732:0.1847:0.1517	.	672;672	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	672	ENSP00000361665:A672T;ENSP00000361664:A672T;ENSP00000247584:A672T;ENSP00000410828:A672T	ENSP00000247584:A672T	A	-	1	0	HIVEP3	41821042	0.001000	0.12720	0.073000	0.20177	0.946000	0.59487	-0.679000	0.05203	-1.014000	0.03379	-0.459000	0.05422	GCA		0.463	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	557	0	0	0	1	0	6	557					T	42048455	C	T	42048455	3	4	4	1	0	0	0	0	1	0	0	0	7218	768	27	1	5230	1	HIVEP3	1	42048455	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	30487187	42048455	207202166	4	407											
C1orf168	199920	broad.mit.edu	37	chr1	57192199	57192199	+	Frame_Shift_Del	DEL	T	T	-													tcttcagcaccgtttttctcTtttttttcctttggtgtcag							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:57192199delT	ENST00000343433.6	-	16	1931	c.1851delA	c.(1849-1851)aaafs	p.K617fs	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	617										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CGTTTTTCTCTTTTTTTTCCT	0.373																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1849-1851)aafs		chromosome 1 open reading frame 168							131	128	129					1																	57192199		2203	4300	6503	SO:0001589	frameshift_variant	199920							g.chr1:57192199delT	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1851delA	1.37:g.57192199delT	ENSP00000345972:p.Lys617fs						p.K617fs	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			16	1931	-			617					Q63HM3|Q6ZUY6	Frame_Shift_Del	DEL	ENST00000343433.6	37	c.1851delA	CCDS30729.1																																																																																				0.373	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		7	492						7	492	---	---	---	---	-	57192199	T	-	57192199	7	5	4	1	0	1	0	1	0	0	0	0	2019	1606	56	0	355	0	C1orf168	1	57192199	Frame_Shift_Del	DEL	T	TCGA-2J-AAB8-01A-12D-A40W-08	15143744	57192199	192058422	5	408											
IL23R	149233	broad.mit.edu	37	chr1	67724439	67724439	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aataataatgaaattacttcCttaacacttaaaccaccagt	2	9	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	506					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATTACTTCCTTAACACTTA	0.353																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1516-1518)tcC>tcG		interleukin 23 receptor							56	56	56					1																	67724439		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724439C>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1518C>G	1.37:g.67724439C>G						IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S	p.S506S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1689	+			506					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1518C>G	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	2.832	-0.242526	0.05906	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.0	0.19881	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	-36.091	3.472	0.07570	0.1722:0.4723:0.0:0.3555	.	.	.	.	R	268	.	.	P	+	2	0	IL23R	67497027	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.056000	0.11787	-0.077000	0.12752	0.650000	0.86243	CCT		0.353	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		12	237	0	0	0	1	0	12	237					G	67724439	C	G	67724439	2	3	4	1	0	0	0	0	0	0	0	1	7706	668	24	5		5	IL23R	1	67724439	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	10532240	67724439	181526182	6	409											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	855						7	855	---	---	---	---	-	74957826	CTT	-	74957824	6	5	4	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-2J-AAB8-01A-12D-A40W-08	7233385	74957824	174292797	7	410											
PIAS3	10401	broad.mit.edu	37	chr1	145578668	145578668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagcggtttgaggaagcGcactttacctttgccctcac	10	13	1	1	rs201406617		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	158	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGAGGAAGCGCACTTTACCT	0.537																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(472-474)gcG>gcA		protein inhibitor of activated STAT, 3		G		1,4405	2.1+/-5.4	0,1,2202	216	188	198		474	-5.5	0.9	1		198	0,8600		0,0,4300	no	coding-synonymous	PIAS3	NM_006099.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		158/629	145578668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578668G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.474G>A	1.37:g.145578668G>A						PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A	p.A158A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			3	564	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		158			PINIT.		Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.474G>A	CCDS920.2																																																																																				0.537	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		44	720	0	0	0	1	0	44	720					A	145578668	G	A	145578668	2	1	4	1	0	0	0	0	0	0	0	1	11919	1074	38	1		1	PIAS3	1	145578668	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	70620844	145578668	103671953	8	411											
F5	2153	broad.mit.edu	37	chr1	169529961	169529961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagccacagcgtcGtccatcttctccgcagggaa	12	15	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367797.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367796.3_Silent_p.D139D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(415-417)gaC>gaT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						148	124	132					1																	169529961		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529961G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.417C>T	1.37:g.169529961G>A						F5_ENST00000367797.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D	p.D139D			P12259	FA5_HUMAN			4	618	-	all_hematologic(923;0.208)		139			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.417C>T	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		16	471	0	0	0	1	0	16	471					A	169529961	G	A	169529961	2	1	4	1	0	0	0	0	0	0	0	1	5366	1136	40	1		1	F5	1	169529961	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	23951293	169529961	79720660	9	412											
SELL	6402	broad.mit.edu	37	chr1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatctgtgtaattgtctcGgcagaatcttctagcccttt	7	9	4	1	rs572748773		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	58	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAATTGTCTCGGCAGAATCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20085	0.001		0.0	False		,,,				2504	0.0					ENST00000236147.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15						c.(211-213)Cga>Tga		selectin L							53	47	49					1																	169677858		1863	4110	5973	SO:0001587	stop_gained	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169677858G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.211C>T	1.37:g.169677858G>A	ENSP00000236147:p.Arg71*					C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	p.R71*	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN			3	371	-	all_hematologic(923;0.208)		58			C-type lectin.		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	ENST00000236147.4	37	c.211C>T	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223393	0.58668	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.2	2.14	0.27477	.	1.276940	0.05720	N	0.597599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.1421	13.8848	0.63702	0.0:0.0:0.312:0.688	.	.	.	.	X	71	.	ENSP00000236147:R71X	R	-	1	2	SELL	167944482	0.205000	0.23458	0.276000	0.24689	0.016000	0.09150	0.447000	0.21710	0.150000	0.19136	0.585000	0.79938	CGA		0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		7	84	0	0	0	1	0	7	84					A	169677858	G	A	169677858	4	1	4	1	0	0	0	0	0	1	0	0	14066	1124	39	1	974	1	SELL	1	169677858	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	147897	169677858	79572763	10	413											
TNR	7143	broad.mit.edu	37	chr1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgctgttgaggctgatttCgtattcggtagctgggttca	13	8	1	2	rs531733667		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7. {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.E930K(2)		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)					AGGCTGATTTCGTATTCGGTA	0.532																																						ENST00000367674.1																			2	Substitution - Missense(2)	p.E930K(2)	large_intestine(1)|breast(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						c.(2788-2790)Gaa>Aaa		tenascin R							215	181	193					1																	175331865		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331865C>T	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.2788G>A	1.37:g.175331865C>T	ENSP00000356646:p.Glu930Lys					TNR_ENST00000263525.2_Missense_Mutation_p.E930K	p.E930K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			14	3496	-	Renal(580;0.146)		930			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2788G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	TNR	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		115	345	0	0	0	1	0	115	345					T	175331865	C	T	175331865	3	4	4	1	0	0	0	0	1	0	0	0	16390	893	31	1	1328	1	TNR	1	175331865	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	5654007	175331865	73918756	11	414											
PRG4	10216	broad.mit.edu	37	chr1	186276168	186276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCcccaagaagcctgccccaac	7	20	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				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						c.(1315-1317)acC>acT		proteoglycan 4							77	84	82					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>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.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	423	0	0	0	1	0	7	423					T	186276168	C	T	186276168	2	4	4	1	0	0	0	0	0	0	0	1	12528	610	22	2		2	PRG4	1	186276168	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	10944303	186276168	62974453	12	415											
CD55	1604	broad.mit.edu	37	chr1	207532957	207532957	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgggcttgctgacttagcCaaagaagagttaagaagaaa	11	6	0	5			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:207532957C>A	ENST00000367064.3	+	0	1406				CD55_ENST00000314754.8_Silent_p.A422A|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000391920.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)						CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CTGACTTAGCCAAAGAAGAGT	0.348																																						ENST00000314754.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1264-1266)gcC>gcA		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						86	88	87					1																	207532957		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207532957C>A	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.*2C>A	1.37:g.207532957C>A						CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000391920.4_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367064.3_3'UTR	p.A422A	NM_001114752.1	NP_001108224.1	P08174	DAF_HUMAN			11	1331	+			0					B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.1266C>A	CCDS31006.1																																																																																				0.348	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		4	264	1	0	0.000602214	1	0.000612364	4	264					A	207532957	C	A	207532957	1	1	4	0	1	0	0	0	0	0	0	0	3033	581	21	3		3	CD55	1	207532957	3'UTR	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	21256789	207532957	41717664	13	416											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		6	786	0	0	0	1	0	6	786					T	223176649	C	T	223176649	3	4	4	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	15643692	223176649	26073972	14	417											
OBSCN	84033	broad.mit.edu	37	chr1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcagcccacccactgcGctggcttgtccgcaccaagc	11	17	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000422127.1	+	67	16960	c.16916G>A	c.(16915-16917)cGc>cAc	p.R5639H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6596H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5639	SH3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCACTGCGCTGGCTTGTC	0.642																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19786-19788)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28	30	29					1																	228525760		2162	4262	6424	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228525760G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16916G>A	1.37:g.228525760G>A	ENSP00000409493:p.Arg5639His					OBSCN_ENST00000422127.1_Missense_Mutation_p.R5639H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H	p.R6596H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			78	19861	+		Prostate(94;0.0405)	5639			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19787G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159631	0.78226	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.35	2.47	0.30058	Src homology-3 domain (2);	0.296783	0.25143	N	0.032814	T	0.19805	0.0476	N	0.19112	0.55	0.31810	N	0.627308	B;B	0.21381	0.033;0.055	B;B	0.16722	0.007;0.016	T	0.11036	-1.0604	10	0.66056	D	0.02	.	4.4143	0.11448	0.4487:0.0:0.5513:0.0	.	5639;5639	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5639;5639;3273;2758	ENSP00000284548:R5639H;ENSP00000409493:R5639H;ENSP00000355668:R3273H;ENSP00000355670:R2758H	ENSP00000284548:R5639H	R	+	2	0	OBSCN	226592383	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.978000	0.70501	1.202000	0.43218	0.491000	0.48974	CGC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	120	0	0	0	1	0	7	120					A	228525760	G	A	228525760	3	1	4	1	0	0	0	0	1	0	0	0	10854	1087	38	1	17178	1	OBSCN	1	228525760	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	5349111	228525760	20724861	15	418											
KIAA1804	84451	broad.mit.edu	37	chr1	233511709	233511709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggaaggaacacagtctttCgacaagaagaatttgaggat	13	5	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:233511709C>T	ENST00000366624.3	+	7	1984	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21*	NM_032435.2	NP_115811.2												p.R575*(3)									CACAGTCTTTCGACAAGAAGA	0.318																																						ENST00000366624.3																			3	Substitution - Nonsense(3)	p.R575*(3)	ovary(1)|prostate(1)|large_intestine(1)								c.(1723-1725)Cga>Tga									80	83	82					1																	233511709		2203	4299	6502	SO:0001587	stop_gained	0							g.chr1:233511709C>T																												ENST00000366624.3:c.1723C>T	1.37:g.233511709C>T	ENSP00000355583:p.Arg575*					MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21*	p.R575*	NM_032435.2	NP_115811.2					7	1984	+									Nonsense_Mutation	SNP	ENST00000366624.3	37	c.1723C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	43	9.898159	0.99290	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	5.44	5.44	0.79542	.	0.076288	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	.	.	.	X	575;21	.	ENSP00000355581:R21X	R	+	1	2	RP5-862P8.2	231578332	0.932000	0.31603	0.993000	0.49108	0.988000	0.76386	4.339000	0.59322	2.832000	0.97577	0.655000	0.94253	CGA		0.318	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			32	248	0	0	0	1	0	32	248					T	233511709	C	T	233511709	4	4	4	1	0	0	0	0	0	1	0	0	8289	876	31	1	1749	1	KIAA1804	1	233511709	Nonsense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	4985949	233511709	15738912	16	419											
OR2M4	26245	broad.mit.edu	37	chr1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaccatcctcatgaatcCgaaactctgtgtcttcatga	6	12	4	2	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					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.P138L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCATGAATCCGAAACTCTGT	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		21503	0.0		0.0	False		,,,				2504	0.001					ENST00000306687.1																			1	Substitution - Missense(1)	p.P138L(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(412-414)cCg>cTg		olfactory receptor, family 2, subfamily M, member 4		C	LEU/PRO	0,4406		0,0,2203	165	138	147		413	-0.6	0	1	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR2M4	NM_017504.1	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	138/312	248402643	2,13004	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402643C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.413C>T	1.37:g.248402643C>T	ENSP00000306688:p.Pro138Leu						p.P138L	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	413	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.413C>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.462993	0.01062	0.0	2.33E-4	ENSG00000171180	ENST00000306687	T	0.00526	6.8	3.48	-0.649	0.11461	GPCR, rhodopsin-like superfamily (1);	1.195430	0.06309	N	0.702303	T	0.00440	0.0014	L	0.46670	1.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43491	-0.9388	10	0.29301	T	0.29	.	2.7909	0.05388	0.294:0.4613:0.097:0.1477	.	138	Q96R27	OR2M4_HUMAN	L	138	ENSP00000306688:P138L	ENSP00000306688:P138L	P	+	2	0	OR2M4	246469266	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.758000	0.04766	-0.245000	0.09625	-0.414000	0.06135	CCG		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		73	349	0	0	0	1	0	73	349					T	248402643	C	T	248402643	3	4	4	1	0	0	0	0	1	0	0	0	11054	652	23	1	415	1	OR2M4	1	248402643	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	14890934	248402643	847978	17	420											
ADCY3	109	broad.mit.edu	37	chr2	25051001	25051001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgccgttgcattgctGggtcccgtgtagtactggag	13	11	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	734					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCATTGCTGGGTCCCGTGT	0.602											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2200-2202)ccC>ccT		adenylate cyclase 3							62	53	56					2																	25051001		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25051001G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2202C>T	2.37:g.25051001G>A			OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.P734P	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			13	3053	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		734					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2202C>T	CCDS1715.1																																																																																				0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			11	161	0	0	0	1	0	11	161					A	25051001	G	A	25051001	2	1	4	1	0	0	0	0	0	0	0	1	295	1335	47	2		2	ADCY3	2	25051001	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		25051001	218148372	18	421											
ALK	238	broad.mit.edu	37	chr2	29443582	29443582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcactcaccgggcgagggCgggtctctcggaggaaggac	16	12	3	0	rs143790259		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:29443582C>T	ENST00000389048.3	-	23	4541	c.3635G>A	c.(3634-3636)cGc>cAc	p.R1212H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1212H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGGGCGAGGGCGGGTCTCTCG	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	1	Substitution - Missense(1)	p.R1212H(1)	skin(1)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(3634-3636)cGc>cAc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						46	45	45					2																	29443582		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443582C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3635G>A	2.37:g.29443582C>T	ENSP00000373700:p.Arg1212His					ALK_ENST00000431873.1_Intron	p.R1212H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			23	4541	-	Acute lymphoblastic leukemia(172;0.155)		1212			Protein kinase.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3635G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	35	5.476826	0.96291	.	.	ENSG00000171094	ENST00000389048	D	0.89681	-2.55	5.59	4.71	0.59529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	U	0.000184	D	0.93835	0.8028	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.93860	0.7153	9	.	.	.	.	17.0044	0.86389	0.0:0.8728:0.1272:0.0	.	1212	Q9UM73	ALK_HUMAN	H	1212	ENSP00000373700:R1212H	.	R	-	2	0	ALK	29297086	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.012000	0.70767	1.472000	0.48140	0.645000	0.84053	CGC		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		26	119	0	0	0	1	0	26	119					T	29443582	C	T	29443582	3	4	4	1	0	0	0	0	1	0	0	0	525	768	27	1	1255	1	ALK	2	29443582	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	4392581	29443582	213755791	19	422											
RTN4	57142	broad.mit.edu	37	chr2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catattctatcattgactcaAatgaagtctcagtgagactt	6	8	4	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	776					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTGACTCAAATGAAGTCTC	0.363																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2326-2328)tTt>tGt		reticulon 4							52	52	52					2																	55252908		2203	4297	6500	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252908A>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2327T>G	2.37:g.55252908A>C	ENSP00000337838:p.Phe776Cys					RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C	p.F776C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2570	-			776					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2327T>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334465	0.05278	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.45	-0.531	0.11894	.	1.868710	0.02414	N	0.081987	T	0.15132	0.0365	L	0.40543	1.245	0.09310	N	1	P	0.36438	0.553	B	0.34824	0.19	T	0.25710	-1.0124	10	0.59425	D	0.04	0.8146	5.228	0.15406	0.3847:0.0:0.4705:0.1449	.	776	Q9NQC3	RTN4_HUMAN	C	570;570;776;570;570;544	ENSP00000384471:F570C;ENSP00000349944:F570C;ENSP00000337838:F776C;ENSP00000378109:F570C;ENSP00000385650:F570C;ENSP00000346465:F544C	ENSP00000337838:F776C	F	-	2	0	RTN4	55106412	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.187000	0.09656	-0.023000	0.13963	-0.242000	0.12053	TTT		0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			38	305	0	0	0	1	0	38	305					C	55252908	A	C	55252908	3	2	4	1	0	0	0	0	1	0	0	0	13778	14	1	4	1317	4	RTN4	2	55252908	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	25809326	55252908	187946465	20	423											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	12	10	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.A486T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca		AF4/FMR2 family, member 3							124	137	133					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T	p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1616	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	985	0	0	0	1	0	7	985					T	100210742	C	T	100210742	3	4	4	1	0	0	0	0	1	0	0	0	358	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	44957834	100210742	142988631	21	424											
FASTKD1	79675	broad.mit.edu	37	chr2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataattagtggttcacaactGatgggtcgaaattgaaacac	9	6	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	34					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTTCACAACTGATGGGTCGAA	0.358																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(100-102)atC>atG		FAST kinase domains 1							76	72	73					2																	170428438		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428438G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.102C>G	2.37:g.170428438G>C	ENSP00000400513:p.Ile34Met					FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	448	-			34					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.102C>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900868	0.17686	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.17854	2.25;2.25	5.07	0.625	0.17665	.	0.967032	0.08552	N	0.928866	T	0.13756	0.0333	L	0.36672	1.1	0.09310	N	1	P;P;P	0.51240	0.906;0.943;0.906	B;P;B	0.46940	0.332;0.532;0.264	T	0.13388	-1.0511	10	0.34782	T	0.22	-16.7467	0.4362	0.00479	0.2023:0.2566:0.2195:0.3215	.	34;34;34	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	M	34	ENSP00000400513:I34M;ENSP00000403229:I34M	ENSP00000396769:I34M	I	-	3	3	FASTKD1	170136684	0.020000	0.18652	0.035000	0.18076	0.637000	0.38172	0.239000	0.18023	-0.051000	0.13334	0.591000	0.81541	ATC		0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		25	292	0	0	0	1	0	25	292					C	170428438	G	C	170428438	3	2	4	1	0	0	0	0	1	0	0	0	5710	1280	45	5	2497	5	FASTKD1	2	170428438	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	70217696	170428438	72770935	22	425											
TTN	7273	broad.mit.edu	37	chr2	179611913	179611913	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggggtgtggagtatcTctctagagtctctcctggag	14	9	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:179611913T>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.R5072R|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAGTATCTCTCTAGAGTC	0.532																																						ENST00000360870.5																			0				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						c.(15214-15216)Aga>Cga		titin							71	75	74					2																	179611913		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611913T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5265A>C	2.37:g.179611913T>G						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.R5072R	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15436	-			1179			Ig-like 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15214A>C																																																																																					0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	369	0	0	0	1	0	14	369					G	179611913	T	G	179611913	1	3	4	0	1	0	0	0	0	0	0	0	16789	1559	54	4		4	TTN	2	179611913	Intron	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	9183475	179611913	63587460	23	426											
COL3A1	1281	broad.mit.edu	37	chr2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttctcctggcccccctgGaatctgtgaatcatgcccta	9	14	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					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)			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)	GGCCCCCCTGGAATCTGTGAA	0.448																																						ENST00000304636.3																			0				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						c.(415-417)gGa>gAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						43	46	45					2																	189850473		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.chr2:189850473G>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.416G>A	2.37:g.189850473G>A	ENSP00000304408:p.Gly139Glu					COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	p.G139E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		4	586	+			139					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.416G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673160	0.88445	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.77	4.62	4.62	0.57501	.	0.000000	0.40908	D	0.000991	D	0.99327	0.9764	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	.	17.6469	0.88151	0.0:0.0:1.0:0.0	.	139	P02461	CO3A1_HUMAN	E	139	ENSP00000304408:G139E;ENSP00000315243:G139E	ENSP00000304408:G139E	G	+	2	0	COL3A1	189558718	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.104000	0.94239	2.414000	0.81942	0.313000	0.20887	GGA		0.448	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		10	147	0	0	0	1	0	10	147					A	189850473	G	A	189850473	3	1	4	1	0	0	0	0	1	0	0	0	3697	1174	41	2	430	2	COL3A1	2	189850473	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	10238560	189850473	53348900	24	427											
MARS2	92935	broad.mit.edu	37	chr2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcctgttaggggccgGcatgagcccgccacagcgca	13	15	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542																																						ENST00000282276.6																			1	Substitution - Missense(1)	p.G328D(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(982-984)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						128	126	127					2																	198571112		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571112G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.983G>A	2.37:g.198571112G>A	ENSP00000282276:p.Gly328Asp					AC011997.1_ENST00000409845.1_Intron	p.G328D	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1026	+			328					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.983G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352276	0.82132	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.56611	0.45	5.45	5.45	0.79879	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109437	0.64402	D	0.000007	T	0.55401	0.1918	L	0.56340	1.77	0.80722	D	1	P	0.40376	0.715	P	0.46685	0.524	T	0.47156	-0.9139	10	0.13108	T	0.6	-14.7498	16.7845	0.85571	0.0:0.0:1.0:0.0	.	328	Q96GW9	SYMM_HUMAN	D	328;255	ENSP00000282276:G328D	ENSP00000282276:G328D	G	+	2	0	MARS2	198279357	1.000000	0.71417	0.917000	0.36280	0.977000	0.68977	9.746000	0.98859	2.575000	0.86900	0.655000	0.94253	GGC		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		6	890	0	0	0	1	0	6	890					A	198571112	G	A	198571112	3	1	4	1	0	0	0	0	1	0	0	0	9358	1203	42	2	985	2	MARS2	2	198571112	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	8720639	198571112	44628261	25	428											
IKZF2	22807	broad.mit.edu	37	chr2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagctacagaaaggacatttGaacggcttctctccagagtg	10	9	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000434687.1	-	6	813	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F168L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	168					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGGACATTTGAACGGCTTCT	0.493																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(502-504)ttC>ttG		IKAROS family zinc finger 2 (Helios)							92	81	85					2																	213914507		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914507G>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.504C>G	2.37:g.213914507G>C	ENSP00000412869:p.Phe168Leu					IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F168L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000374327.4_Intron	p.F168L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	672	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	168					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.504C>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358031	0.95854	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;1.98;0.45;1.98;-0.17	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.74329	0.3702	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.994	P;D;D;D	0.79108	0.825;0.969;0.985;0.992	T	0.73984	-0.3810	10	0.54805	T	0.06	-7.0219	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	142;142;142;168	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	168;174;168;142;142;142;168	ENSP00000410447:F168L;ENSP00000342876:F174L;ENSP00000412869:F168L;ENSP00000363439:F142L;ENSP00000395203:F142L;ENSP00000399574:F142L;ENSP00000402334:F168L	ENSP00000342876:F174L	F	-	3	2	IKZF2	213622752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.861000	0.98227	0.655000	0.94253	TTC		0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		11	261	0	0	0	1	0	11	261					C	213914507	G	C	213914507	3	2	4	1	0	0	0	0	1	0	0	0	7645	1281	45	5	1092	5	IKZF2	2	213914507	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	15343395	213914507	29284866	26	429											
ATP2B2	491	broad.mit.edu	37	chr3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggccagcccggaccaCggtaaatttctgttcctgct	9	15	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000352432.4	-	3	649	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000397077.1_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	194					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCCGGACCACGGTAAATTTC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(580-582)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 2							136	148	144					3																	10443850		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443850C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.580G>A	3.37:g.10443850C>T	ENSP00000324172:p.Val194Met					ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M	p.V194M			Q01814	AT2B2_HUMAN			6	1155	-			194					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.580G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076585	0.94000	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.99643	1.0989	10	0.87932	D	0	-29.579	19.2768	0.94034	0.0:1.0:0.0:0.0	.	194;206;194	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	194;194;194;194;194;160;81;194	ENSP00000324172:V194M;ENSP00000373311:V194M;ENSP00000380267:V194M;ENSP00000353414:V194M;ENSP00000344677:V194M;ENSP00000414854:V81M	ENSP00000342954:V194M	V	-	1	0	ATP2B2	10418850	1.000000	0.71417	0.950000	0.38849	0.951000	0.60555	6.066000	0.71185	2.550000	0.86006	0.467000	0.42956	GTG		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		51	732	0	0	0	1	0	51	732					T	10443850	C	T	10443850	3	4	4	1	0	0	0	0	1	0	0	0	1141	536	19	1	3231	1	ATP2B2	3	10443850	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		10443850	187578580	27	430											
WNT7A	7476	broad.mit.edu	37	chr3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccagcttcatgttctcctCcaggatctgcaggggagggc	12	12	3	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTCTCCTCCAGGATCTGC	0.657																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(577-579)Gag>Tag		wingless-type MMTV integration site family, member 7A							88	85	86					3																	13860914		2203	4300	6503	SO:0001587	stop_gained	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860914C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.577G>T	3.37:g.13860914C>A	ENSP00000285018:p.Glu193*						p.E193*	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	881	-			193					Q96H90|Q9Y560	Nonsense_Mutation	SNP	ENST00000285018.4	37	c.577G>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	37	6.310859	0.97462	.	.	ENSG00000154764	ENST00000285018	.	.	.	4.29	4.29	0.51040	.	0.170785	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000285018:E193X	E	-	1	0	WNT7A	13835915	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GAG		0.657	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		5	352	1	0	0.0215528	1	0.0215528	5	352					A	13860914	C	A	13860914	4	1	4	1	0	0	0	0	0	1	0	0	17448	864	30	3	476	3	WNT7A	3	13860914	Nonsense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3417064	13860914	184161516	28	431											
GRIP2	80852	broad.mit.edu	37	chr3	14562025	14562025	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccaccatcaagggtccCgaagcattagccaccgtgtc	8	14	1	0	rs115834067	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:14562025C>T	ENST00000273083.3	-	0	797							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCAAGGGTCCCGAAGCATTAG	0.527													C|||	34	0.00678914	0.0257	0.0	5008	,	,		17556	0.0		0.0	False		,,,				2504	0.0					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2		C		100,3914		2,96,1909	64	69	68		1023	-10.4	0	3	dbSNP_132	68	2,8330		0,2,4164	no	coding-synonymous	GRIP2	NM_001080423.2		2,98,6073	TT,TC,CC		0.024,2.4913,0.8262		341/1141	14562025	102,12244	2007	4166	6173			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14562025C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14562025C>T										Q9C0E4	GRIP2_HUMAN			0	797	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.527	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	186	0	0	0	1	0	4	186					T	14562025	C	T	14562025	1	4	4	0	1	0	0	0	0	0	0	0	6818	639	23	1		1	GRIP2	3	14562025	RNA	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	701111	14562025	183460405	29	432											
MST1R	4486	broad.mit.edu	37	chr3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgccatgcccttaggcAacgcccacaggtcaggaagt	11	12	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	536					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCTTAGGCAACGCCCACAG	0.612																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1606-1608)Tgc>Cgc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							66	70	69					3																	49936064		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49936064A>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1606T>C	3.37:g.49936064A>G	ENSP00000296474:p.Cys536Arg					MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	p.C536R	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	4	1633	-			536					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1606T>C	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221236	0.79464	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.77489	-1.1;-1.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	M	0.92026	3.265	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;0.998	D	0.92564	0.6060	10	0.87932	D	0	-23.5053	16.2118	0.82165	1.0:0.0:0.0:0.0	.	430;536;536;536	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	R	536	ENSP00000296474:C536R;ENSP00000341325:C536R	ENSP00000296474:C536R	C	-	1	0	MST1R	49911068	1.000000	0.71417	0.967000	0.41034	0.799000	0.45148	8.290000	0.89925	2.234000	0.73211	0.402000	0.26972	TGC		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			48	253	0	0	0	1	0	48	253					G	49936064	A	G	49936064	3	3	4	1	0	0	0	0	1	0	0	0	9932	130	5	4	2664	4	MST1R	3	49936064	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	35374039	49936064	148086366	30	433											
LRRC33	375387	broad.mit.edu	37	chr3	196386910	196386910	+	Frame_Shift_Del	DEL	G	G	-													gccgccctccacgccctgccGggcctgcggaggctggactt							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:196386910delG	ENST00000328557.4	+	3	599	c.396delG	c.(394-396)ccgfs	p.P132fs		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	132					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)											ACGCCCTGCCGGGCCTGCGGA	0.672																																						ENST00000328557.4																			0											c.(394-396)ccfs		negative regulator of reactive oxygen species							20	23	22					3																	196386910		2203	4300	6503	SO:0001589	frameshift_variant	375387							g.chr3:196386910delG	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.396delG	3.37:g.196386910delG	ENSP00000328625:p.Pro132fs						p.P132fs	NM_198565.1	NP_940967.1					3	599	+									Frame_Shift_Del	DEL	ENST00000328557.4	37	c.396delG	CCDS3319.1																																																																																				0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		13	169						13	169	---	---	---	---	-	196386910	G	-	196386910	7	5	4	1	0	1	0	1	0	0	0	0	9026	1103	39	0	402	0	LRRC33	3	196386910	Frame_Shift_Del	DEL	G	TCGA-2J-AAB8-01A-12D-A40W-08	146450846	196386910	1635520	31	434											
CD38	952	broad.mit.edu	37	chr4	15835859	15835859	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaataaactatcaatcttgCccagactggagaaaggactg	9	8	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:15835859C>G	ENST00000226279.3	+	4	656	c.519C>G	c.(517-519)tgC>tgG	p.C173W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	173					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATCAATCTTGCCCAGACTGGA	0.398																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(517-519)tgC>tgG		CD38 molecule							89	87	88					4																	15835859		2203	4300	6503	SO:0001583	missense	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.chr4:15835859C>G	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.519C>G	4.37:g.15835859C>G	ENSP00000226279:p.Cys173Trp						p.C173W	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			4	656	+			173					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.519C>G	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.303571|1.303571	0.23736|0.23736	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000540195|ENST00000226279;ENST00000510674	.|T;T	.|0.43294	.|0.95;0.95	5.4|5.4	-0.153|-0.153	0.13403|0.13403	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63745|0.63745	0.2537|0.2537	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.64521|0.64521	-0.6388|-0.6388	6|10	0.66056|0.87932	D|D	0.02|0	-26.4774|-26.4774	8.6688|8.6688	0.34137|0.34137	0.0:0.5589:0.0:0.4411|0.0:0.5589:0.0:0.4411	.|.	.|173	.|P28907	.|CD38_HUMAN	G|W	128|173;61	.|ENSP00000226279:C173W;ENSP00000423047:C61W	ENSP00000442176:A128G|ENSP00000226279:C173W	A|C	+|+	2|3	0|2	CD38|CD38	15444957|15444957	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.042000|0.042000	0.13812|0.13812	0.525000|0.525000	0.22956|0.22956	-0.035000|-0.035000	0.13691|0.13691	-0.157000|-0.157000	0.13467|0.13467	GCC|TGC		0.398	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		5	306	0	0	0	1	0	5	306					G	15835859	C	G	15835859	3	3	4	1	0	0	0	0	1	0	0	0	3018	747	26	5	533	5	CD38	4	15835859	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		15835859	175318417	32	435											
LIN54	132660	broad.mit.edu	37	chr4	83891489	83891489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttttttaccttatttggCgatttcaaaggtgagatggc	9	5	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000395283.2_Intron|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Silent_p.S314S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	314					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCTTATTTGGCGATTTCAAAG	0.308																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(940-942)tcG>tcA		lin-54 homolog (C. elegans)							170	172	171					4																	83891489		2203	4300	6503	SO:0001819	synonymous_variant	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83891489C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.942G>A	4.37:g.83891489C>T						LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000505397.1_Silent_p.S314S	p.S314S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			4	1319	-		Hepatocellular(203;0.114)	314					Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	c.942G>A	CCDS3599.1																																																																																				0.308	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		5	465	0	0	0	1	0	5	465					T	83891489	C	T	83891489	2	4	4	1	0	0	0	0	0	0	0	1	8842	755	27	1		1	LIN54	4	83891489	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	68055630	83891489	107262787	33	436											
SPARCL1	8404	broad.mit.edu	37	chr4	88412840	88412840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagttctctgctttcttGgcctttagaataacaagagc	9	8	2	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000282470.6	-	5	1691	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000418378.1_Silent_p.A407A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	407					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGCTTTCTTGGCCTTTAGAA	0.393																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1219-1221)gcC>gcT		SPARC-like 1 (hevin)							211	174	186					4																	88412840		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88412840G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1221C>T	4.37:g.88412840G>A						SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000282470.6_Silent_p.A407A	p.A407A	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	6	1792	-			407					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.1221C>T	CCDS3622.1																																																																																				0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			35	240	0	0	0	1	0	35	240					A	88412840	G	A	88412840	2	1	4	1	0	0	0	0	0	0	0	1	15048	1335	47	2		2	SPARCL1	4	88412840	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4521351	88412840	102741436	34	437											
STOX2	56977	broad.mit.edu	37	chr4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcttctctagggacgccgGaagaccttgctgaaggctgc	12	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	510					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGGACGCCGGAAGACCTTGC	0.547																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1528-1530)Gaa>Aaa		storkhead box 2							39	44	42					4																	184931519		1951	4159	6110	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931519G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1528G>A	4.37:g.184931519G>A	ENSP00000311257:p.Glu510Lys					STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2963	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	510					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1528G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971202	0.53614	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.048167	0.85682	D	0.000000	T	0.76011	0.3928	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.361;0.083	B;B	0.34652	0.187;0.057	T	0.75717	-0.3220	10	0.72032	D	0.01	-13.8256	19.9142	0.97043	0.0:0.0:1.0:0.0	.	510;510	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	K	510	ENSP00000311257:E510K;ENSP00000390127:E510K	ENSP00000311257:E510K	E	+	1	0	STOX2	185168513	1.000000	0.71417	0.970000	0.41538	0.426000	0.31534	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GAA		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		12	58	0	0	0	1	0	12	58					A	184931519	G	A	184931519	3	1	4	1	0	0	0	0	1	0	0	0	15372	1175	41	2	1538	2	STOX2	4	184931519	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	96518679	184931519	6222757	35	438											
STOX2	56977	broad.mit.edu	37	chr4	184932370	184932370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaagaacacagaggaggaGaaaaatagagaggacgtagg	14	4	0	4			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	793					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGGAGGAGAAAAATAGAG	0.498																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(2377-2379)gaG>gaA		storkhead box 2							46	49	48					4																	184932370		1992	4158	6150	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184932370G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2379G>A	4.37:g.184932370G>A						STOX2_ENST00000438269.1_Silent_p.E793E	p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3814	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	793					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.2379G>A	CCDS47167.1																																																																																				0.498	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		6	55	0	0	0	1	0	6	55					A	184932370	G	A	184932370	2	1	4	1	0	0	0	0	0	0	0	1	15372	933	33	2		2	STOX2	4	184932370	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	851	184932370	6221906	36	439											
WDR70	55100	broad.mit.edu	37	chr5	37396622	37396624	+	In_Frame_Del	DEL	GAA	GAA	-													ctttacctccacctcttaatGaagaagaagaagaagcagag							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:37396622_37396624delGAA	ENST00000265107.4	+	5	598_600	c.442_444delGAA	c.(442-444)gaadel	p.E152del	WDR70_ENST00000504564.1_In_Frame_Del_p.E152del	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	152	Glu-rich.						enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCTCTTAATgaagaagaagaag	0.394																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(442-444)del		WD repeat domain 70																																				SO:0001651	inframe_deletion	55100							g.chr5:37396622_37396624delGAA	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.442_444delGAA	5.37:g.37396631_37396633delGAA	ENSP00000265107:p.Glu152del					WDR70_ENST00000504564.1_In_Frame_Del_p.E152del	p.E152del	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	598_600	+	all_lung(31;0.000285)		152			Glu-rich.		Q9H053	In_Frame_Del	DEL	ENST00000265107.4	37	c.442_444delGAA	CCDS34147.1																																																																																				0.394	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		7	293						7	293	---	---	---	---	-	37396624	GAA	-	37396622	7	5	4	1	0	1	0	1	0	0	0	0	17375	1291	45	0	460	0	WDR70	5	37396622	In_Frame_Del	DEL	GAA	TCGA-2J-AAB8-01A-12D-A40W-08		37396622	143518638	37	440											
THBS4	7060	broad.mit.edu	37	chr5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagatgcagacagagatGgcattggcgacgcttgtgac	14	7	0	5			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	502					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGACAGAGATGGCATTGGCGA	0.517																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1504-1506)Ggc>Agc		thrombospondin 4							144	128	133					5																	79366517		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366517G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1504G>A	5.37:g.79366517G>A	ENSP00000339730:p.Gly502Ser					THBS4_ENST00000511733.1_Missense_Mutation_p.G411S|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	p.G502S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	12	1694	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	502					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1504G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721678	0.68959	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98914	-4.89;-5.23	5.17	5.17	0.71159	.	0.049134	0.85682	D	0.000000	D	0.98302	0.9437	M	0.93106	3.38	0.80722	D	1	P	0.46621	0.881	B	0.41619	0.361	D	0.98048	1.0386	10	0.51188	T	0.08	-36.174	12.2251	0.54455	0.0773:0.0:0.9227:0.0	.	502	P35443	TSP4_HUMAN	S	502;411	ENSP00000339730:G502S;ENSP00000422298:G411S	ENSP00000339730:G502S	G	+	1	0	THBS4	79402273	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	6.549000	0.73900	2.703000	0.92315	0.655000	0.94253	GGC		0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			30	472	0	0	0	1	0	30	472					A	79366517	G	A	79366517	3	1	4	1	0	0	0	0	1	0	0	0	15908	1348	47	2	1550	2	THBS4	5	79366517	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	41969895	79366517	101548743	38	441											
HAPLN1	1404	broad.mit.edu	37	chr5	82940318	82940318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgggatattgcacagaGccatcactgagccagccggc	13	11	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	213	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			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)	ATTGCACAGAGCCATCACTGA	0.587																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(637-639)ggC>ggT		hyaluronan and proteoglycan link protein 1							43	48	46					5																	82940318		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940318G>A		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.639C>T	5.37:g.82940318G>A							p.G213G	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1489	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	213			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.639C>T	CCDS4061.1																																																																																				0.587	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		26	307	0	0	0	1	0	26	307					A	82940318	G	A	82940318	2	1	4	1	0	0	0	0	0	0	0	1	6984	958	34	2		2	HAPLN1	5	82940318	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	3573801	82940318	97974942	39	442											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	996						7	996	---	---	---	---	-	124079815	CTC	-	124079813	7	5	4	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-2J-AAB8-01A-12D-A40W-08	41139495	124079813	56835447	40	443											
MEGF10	84466	broad.mit.edu	37	chr5	126771182	126771182	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtgactgctctcaacGtaagtcttgtttgagaacaa	10	8	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e17+1		multiple EGF-like-domains 10							96	80	85					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771182G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>A	5.37:g.126771182G>A						MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2371	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881482	0.91740	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	20	186	0	0	0	1	0	20	186					A	126771182	G	A	126771182	5	1	4	1	0	0	0	0	0	0	1	0	9501	1159	40	1	2163	1	MEGF10	5	126771182	Splice_Site	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	2691369	126771182	54144078	41	444											
EGR1	1958	broad.mit.edu	37	chr5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-													ggcggcgggggcggcagcaaCagcagcagcagcagcagcac							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aacagc>aac	p.S84del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	84	Gly/Ser-rich.				BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.724																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(232-237)aac>aa		early growth response 1				12,237,3657		1,0,10,41,155,1746						-8.4	0.3		dbSNP_132	11	4,434,7198		1,0,2,72,290,3453	no	codingComplex	EGR1	NM_001964.2		2,0,12,113,445,5199	A1A1,A1A2,A1R,A2A2,A2R,RR		5.736,6.3748,5.9522				16,671,10855				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801684_137801686delCAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.234_236delCAG	5.37:g.137801693_137801695delCAG	ENSP00000239938:p.Ser84del						p.NS78del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	506_508	+			78			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.234_236delCAG	CCDS4206.1																																																																																				0.724	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	134						7	134	---	---	---	---	-	137801686	CAG	-	137801684	7	5	4	1	0	1	0	1	0	0	0	0	4987	477	17	0	236	0	EGR1	5	137801684	In_Frame_Del	DEL	CAG	TCGA-2J-AAB8-01A-12D-A40W-08	11030502	137801684	43113576	42	445											
PCDHA9	9752	broad.mit.edu	37	chr5	140230589	140230590	+	Intron	INS	-	-	T													ttttctagaaatccagcagaINSttttttttctgataaagtaa					rs17844337		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140230589_140230590insT	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Ins_p.I837fs|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AATCCAGCAGATTTTTTTTCTG	0.282																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(2509-2511)tttfs					,,,,,,,,,,,	11,3989		0,11,1989					,,,,,,,,,,,	-2.8	0		dbSNP_123	74	9,7947		1,7,3970	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,frameshift	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_031857.1,NM_031849.1,NM_031411.1,NM_018911.2,NM_018910.2,NM_018909.2,NM_018908.2,NM_018907.2,NM_018906.2,NM_018905.2,NM_018900.2,NM_014005.3	,,,,,,,,,,,	1,18,5959	A1A1,A1R,RR		0.1131,0.275,0.1673	,,,,,,,,,,,	,,,,,,,,,,,		20,11936				SO:0001627	intron_variant	0							g.chr5:140230589_140230590insT	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.2394+115->T	5.37:g.140230597_140230597dupT						PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.F837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3233_3234	+								O15053|Q2M3S5	Frame_Shift_Ins	INS	ENST00000532602.1	37	c.2509_2510insT	CCDS54920.1																																																																																				0.282	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	1381						7	1381	---	---	---	---	T	140230590	-	T	140230589	6	5	4	0	1	1	1	0	0	0	0	0	11573	333	12	0		0	PCDHA9	5	140230589	Intron	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08	2428905	140230589	40684671	43	446											
PCDHB7	56129	broad.mit.edu	37	chr5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgctcggccaccgccaCgctgcacgtgctcctggtgg	13	18	0	0	rs558696629		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T657M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCACGTG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19506	0.0		0.0	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - Missense(1)	p.T657M(1)	endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1969-1971)aCg>aTg									30	48	42					5																	140554386		2135	4229	6364	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554386C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1970C>T	5.37:g.140554386C>T	ENSP00000231137:p.Thr657Met						p.T657M	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2144	+			657			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1970C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667450	0.47677	.	.	ENSG00000113212	ENST00000231137	T	0.55588	0.51	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62792	0.2457	M	0.80332	2.49	0.21967	N	0.999445	D	0.54397	0.966	P	0.49953	0.627	T	0.58244	-0.7670	9	0.66056	D	0.02	.	10.9109	0.47108	0.0:0.9049:0.0:0.0951	.	657	Q9Y5E2	PCDB7_HUMAN	M	657	ENSP00000231137:T657M	ENSP00000231137:T657M	T	+	2	0	PCDHB7	140534570	0.004000	0.15560	0.993000	0.49108	0.665000	0.39181	1.710000	0.37920	1.922000	0.55676	0.449000	0.29647	ACG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		15	655	0	0	0	1	0	15	655					T	140554386	C	T	140554386	3	4	4	1	0	0	0	0	1	0	0	0	11589	536	19	1	1972	1	PCDHB7	5	140554386	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	323797	140554386	40360874	44	447											
GMDS	2762	broad.mit.edu	37	chr6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtactgtcagtgagatCgccatagtgcaacttcatgt	11	9	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	86					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCAGTGAGATCGCCATAGTGC	0.383																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(256-258)Gat>Aat		GDP-mannose 4,6-dehydratase							161	149	153					6																	2116094		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2116094C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.256G>A	6.37:g.2116094C>T	ENSP00000370194:p.Asp86Asn					GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	p.D86N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	4	525	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	86					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.256G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384293	0.95967	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95756	-3.8;-3.8	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	10	0.87932	D	0	-17.6903	19.7154	0.96115	0.0:1.0:0.0:0.0	.	86	O60547	GMDS_HUMAN	N	56;86	ENSP00000436726:D56N;ENSP00000370194:D86N	ENSP00000370194:D86N	D	-	1	0	GMDS	2061093	1.000000	0.71417	0.952000	0.39060	0.987000	0.75469	7.487000	0.81328	2.664000	0.90586	0.655000	0.94253	GAT		0.383	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			26	331	0	0	0	1	0	26	331					T	2116094	C	T	2116094	3	4	4	1	0	0	0	0	1	0	0	0	6515	884	31	1	894	1	GMDS	6	2116094	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		2116094	168998973	45	448											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861564	27861564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccggggagctggcCaagcacgccgtgtccgaggg	17	14	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:27861564C>T	ENST00000303806.4	+	1	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	108					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GGGAGCTGGCCAAGCACGCCG	0.637																																						ENST00000303806.4																			0											c.(322-324)gcC>gcT		histone cluster 1, H2bo							46	50	48					6																	27861564		2203	4299	6502	SO:0001819	synonymous_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861564C>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.324C>T	6.37:g.27861564C>T							p.A108A	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	362	+			108					Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	c.324C>T	CCDS4640.1																																																																																				0.637	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		7	367	0	0	0	1	0	7	367					T	27861564	C	T	27861564	2	4	4	1	0	0	0	0	0	0	0	1	7184	581	21	2		2	HIST1H2BO	6	27861564	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	25745470	27861564	143253503	46	449											
CCHCR1	54535	broad.mit.edu	37	chr6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-													tatggactccctggtgggcaCtgctgctgctacaggtgcag					rs140560656		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:31110764_31110766delCTG	ENST00000376266.5	-	17	2320_2322	c.2198_2200delCAG	c.(2197-2202)gcagtg>gtg	p.A733del	CCHCR1_ENST00000451521.2_In_Frame_Del_p.A786del|CCHCR1_ENST00000396268.3_In_Frame_Del_p.A822del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.A680del	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733			A -> V. {ECO:0000269|PubMed:11348465}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2464-2469)gtg>g		coiled-coil alpha-helical rod protein 1																																				SO:0001651	inframe_deletion	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110764_31110766delCTG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2198_2200delCAG	6.37:g.31110770_31110772delCTG	ENSP00000365442:p.Ala733del					CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del|CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del	p.AV822del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			17	2653_2655	-			733					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	In_Frame_Del	DEL	ENST00000376266.5	37	c.2465_2467delCAG	CCDS4695.1																																																																																				0.532	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	2008						7	2008	---	---	---	---	-	31110766	CTG	-	31110764	7	5	4	1	0	1	0	1	0	0	0	0	2884	565	20	0	156	0	CCHCR1	6	31110764	In_Frame_Del	DEL	CTG	TCGA-2J-AAB8-01A-12D-A40W-08	3249200	31110764	140004303	47	450											
MDN1	23195	broad.mit.edu	37	chr6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatccagtaagtattcacttCgactgcattgaatttcaggt	8	8	2	1	rs200448957		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.E2504K(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7510-7512)Gaa>Aaa		MDN1, midasin homolog (yeast)		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	151	154	153		7510	3	0	6		153	0,8600		0,0,4300	no	missense	MDN1	NM_014611.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2504/5597	90421896	1,13005	2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90421896C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7510G>A	6.37:g.90421896C>T	ENSP00000358400:p.Glu2504Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K	p.E2504K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	49	7625	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2504					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7510G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870955	0.33069	2.27E-4	0.0	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.86	2.99	0.34606	.	0.415320	0.25860	N	0.027823	T	0.00815	0.0027	N	0.19112	0.55	0.26986	N	0.965244	B	0.21688	0.059	B	0.08055	0.003	T	0.47586	-0.9106	10	0.17369	T	0.5	.	11.2019	0.48747	0.0:0.6969:0.238:0.0651	.	2504	Q9NU22	MDN1_HUMAN	K	2504	ENSP00000358400:E2504K;ENSP00000413970:E2504K	ENSP00000358400:E2504K	E	-	1	0	MDN1	90478617	0.030000	0.19436	0.017000	0.16124	0.924000	0.55760	0.999000	0.29757	0.757000	0.33036	0.563000	0.77884	GAA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	675	0	0	0	1	0	9	675					T	90421896	C	T	90421896	3	4	4	1	0	0	0	0	1	0	0	0	9456	893	31	1	9496	1	MDN1	6	90421896	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	59311132	90421896	80693171	48	451											
SDK1	221935	broad.mit.edu	37	chr7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggctgcaggggtgagCaaggtggtgaccgtggaagt	20	7	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1849	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGGTGAGCAAGGTGGTGA	0.572																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5545-5547)agC>agG		sidekick cell adhesion molecule 1							73	74	74					7																	4259748		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4259748C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5547C>G	7.37:g.4259748C>G	ENSP00000385899:p.Ser1849Arg					SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	p.S1849R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	39	5686	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1849			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5547C>G	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108140	0.56291	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58358	0.34;0.34	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.89904	3.07	0.44352	D	0.997247	D;P;D	0.58620	0.983;0.604;0.962	D;P;D	0.66602	0.945;0.517;0.933	T	0.78981	-0.1989	10	0.87932	D	0	.	10.8802	0.46933	0.0:0.8536:0.0:0.1464	.	1829;336;1849	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	R	1849;97;1829	ENSP00000385899:S1849R;ENSP00000374182:S1829R	ENSP00000374182:S1829R	S	+	3	2	SDK1	4226274	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.082000	0.30803	2.623000	0.88846	0.650000	0.86243	AGC		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		12	296	0	0	0	1	0	12	296					G	4259748	C	G	4259748	3	3	4	1	0	0	0	0	1	0	0	0	14018	709	25	5	5701	5	SDK1	7	4259748	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		4259748	154878915	49	452											
MUC17	140453	broad.mit.edu	37	chr7	100692136	100692136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgcctcagggccaccggaGactatctctgcccaaatgga	10	16	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4182					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)					GGCCACCGGAGACTATCTCTG	0.522																																						ENST00000306151.4																			0				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						c.(12544-12546)gaG>gaA		mucin 17, cell surface associated							98	88	91					7																	100692136		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100692136G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12546G>A	7.37:g.100692136G>A							p.E4182E	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			5	12610	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4182			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12546G>A	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		27	361	0	0	0	1	0	27	361					A	100692136	G	A	100692136	2	1	4	1	0	0	0	0	0	0	0	1	10015	933	33	2		2	MUC17	7	100692136	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	96432388	100692136	58446527	50	453											
TRPV6	55503	broad.mit.edu	37	chr7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggcactgatgagccGcatcaccatggtcaccagca	10	16	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	443					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGATGAGCCGCATCACCATG	0.607																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1327-1329)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 6							77	62	67					7																	142572369		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572369G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1327C>T	7.37:g.142572369G>A	ENSP00000352358:p.Arg443Trp						p.R443W	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			11	1572	-	Melanoma(164;0.059)		443					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1327C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267374	0.59540	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.88975	-2.45;-2.45	4.52	2.68	0.31781	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.62885	0.908	D	0.93494	0.6838	10	0.56958	D	0.05	-32.9258	11.9495	0.52946	0.0:0.0:0.5445:0.4555	.	443	Q9H1D0	TRPV6_HUMAN	W	443;275;66	ENSP00000352358:R443W;ENSP00000411100:R66W	ENSP00000310825:R275W	R	-	1	2	TRPV6	142282491	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.441000	0.35035	0.629000	0.30376	0.561000	0.74099	CGG		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		4	119	0	0	0	1	0	4	119					A	142572369	G	A	142572369	3	1	4	1	0	0	0	0	1	0	0	0	16653	1086	38	1	870	1	TRPV6	7	142572369	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	41880233	142572369	16566294	51	454											
KRBA1	84626	broad.mit.edu	37	chr7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatggggggcgcattgAtggcattcctcttctccaca	12	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000485033.2	+	15	2910	c.2910A>G	c.(2908-2910)tgA>tgG	p.*970W	KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000255992.10_Nonstop_Mutation_p.*1030W|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	0	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCGCATTGATGGCATTCCT	0.662																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(3088-3090)tgA>tgG		KRAB-A domain containing 1							14	16	16					7																	149431136		2036	4176	6212	SO:0001578	stop_lost	84626							g.chr7:149431136A>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2910A>G	7.37:g.149431136A>G	ENSP00000420112:p.*970Trpext*115					KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonstop_Mutation_p.*970W	p.*1030W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3489	+	Melanoma(164;0.165)|Ovarian(565;0.177)		0					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Nonstop_Mutation	SNP	ENST00000485033.2	37	c.3090A>G		.	.	.	.	.	.	.	.	.	.	A	1.730	-0.494361	0.04322	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	4.48	-4.96	0.03038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8325	0.52303	0.4242:0.0:0.5758:0.0	.	.	.	.	W	1030;970;970	.	.	X	+	3	0	KRBA1	149062069	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.962000	0.03841	-0.871000	0.04042	0.533000	0.62120	TGA		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		5	75	0	0	0	1	0	5	75					G	149431136	A	G	149431136	4	3	4	1	0	0	0	0	0	0	0	0	8469	346	12	4	3154	4	KRBA1	7	149431136	Nonstop_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	6858767	149431136	9707527	52	455											
SLC4A2	6522	broad.mit.edu	37	chr7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A													ccagttctatgagcggctgcINSatctgctgctcatgccgccc					rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000485713.1	+	21	4458_4459	c.3418_3419insA	c.(3418-3420)catfs	p.H1140fs	FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.H1126fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1140	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGCGGCTGCATCTGCTGCTC	0.599																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3418-3420)tctfs		solute carrier family 4 (anion exchanger), member 2																																				SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150772809_150772810insA		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3419dupA	7.37:g.150772810_150772810dupA	ENSP00000419412:p.His1140fs					SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.S1126fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.S1140fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.S1131fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.S1058fs|RP11-148K1.12_ENST00000485974.1_RNA	p.S1140fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	4458_4459	+			1140			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Ins	INS	ENST00000485713.1	37	c.3418_3419insA	CCDS5917.1																																																																																				0.599	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		36	386						36	386	---	---	---	---	A	150772810	-	A	150772809	7	5	4	1	0	1	1	0	0	0	0	0	14704	710	25	0	3496	0	SLC4A2	7	150772809	Frame_Shift_Ins	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08	1341673	150772809	8365854	53	456											
UBE3C	9690	broad.mit.edu	37	chr7	156974879	156974879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttttcatttcatcattcCggcgcttgcagatgcgcaga	9	10	3	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:156974879C>T	ENST00000348165.5	+	8	1208	c.848C>T	c.(847-849)cCg>cTg	p.P283L	UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	283					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCATCATTCCGGCGCTTGCA	0.438																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(847-849)cCg>cTg		ubiquitin protein ligase E3C							97	99	98					7																	156974879		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974879C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.848C>T	7.37:g.156974879C>T	ENSP00000309198:p.Pro283Leu					UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	p.P283L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	8	1208	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	283					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.848C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595433	0.66219	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55052	0.54	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72636	-0.4233	10	0.59425	D	0.04	.	13.2227	0.59896	0.0:0.9225:0.0:0.0775	.	283;283;240	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	L	283;240	ENSP00000309198:P283L	ENSP00000309198:P283L	P	+	2	0	UBE3C	156667640	1.000000	0.71417	0.148000	0.22405	0.453000	0.32348	7.455000	0.80726	1.147000	0.42369	0.455000	0.32223	CCG		0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		6	486	0	0	0	1	0	6	486					T	156974879	C	T	156974879	3	4	4	1	0	0	0	0	1	0	0	0	16935	652	23	1	878	1	UBE3C	7	156974879	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	6202070	156974879	2163784	54	457											
MFHAS1	9258	broad.mit.edu	37	chr8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgtcgaaggttcttgtccGaaacgccatagtaggctgcg	13	11	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	599	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCTTGTCCGAAACGCCATA	0.642																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(1795-1797)tCg>tTg		malignant fibrous histiocytoma amplified sequence 1							63	56	58					8																	8748773		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748773G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1796C>T	8.37:g.8748773G>A	ENSP00000276282:p.Ser599Leu						p.S599L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2382	-		Hepatocellular(245;0.217)	599			Roc.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.1796C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249044	0.59103	.	.	ENSG00000147324	ENST00000276282	T	0.37235	1.21	5.28	5.28	0.74379	ROC GTPase (1);	0.172306	0.38837	N	0.001551	T	0.41166	0.1147	L	0.61218	1.895	0.50039	D	0.999841	D	0.62365	0.991	P	0.45558	0.485	T	0.42120	-0.9470	10	0.72032	D	0.01	.	13.7779	0.63066	0.0:0.1534:0.8466:0.0	.	599	Q9Y4C4	MFHA1_HUMAN	L	599	ENSP00000276282:S599L	ENSP00000276282:S599L	S	-	2	0	MFHAS1	8786183	1.000000	0.71417	0.386000	0.26170	0.938000	0.57974	4.486000	0.60286	2.736000	0.93811	0.655000	0.94253	TCG		0.642	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		5	247	0	0	0	1	0	5	247					A	8748773	G	A	8748773	3	1	4	1	0	0	0	0	1	0	0	0	9562	1059	37	1	1374	1	MFHAS1	8	8748773	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		8748773	137615249	55	458											
AMAC1L2	83650	broad.mit.edu	37	chr8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctgcctgctggcttcGtgggccccctttctcgtatg	14	14	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	54	EamA 1.					integral component of membrane (GO:0016021)											TGCTGGCTTCGTGGGCCCCCT	0.662																																						ENST00000382435.4																			0											c.(160-162)Gtg>Atg		solute carrier family 35, member G5							75	78	77					8																	11188775		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188775G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.160G>A	8.37:g.11188775G>A	ENSP00000371872:p.Val54Met						p.V54M	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	379	+			54			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.160G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350573	0.41599	.	.	ENSG00000177710	ENST00000382435	T	0.52057	0.68	0.34	0.34	0.15985	.	0.000000	0.40469	N	0.001093	T	0.48314	0.1493	L	0.32530	0.975	0.34820	D	0.738583	D	0.89917	1.0	D	0.72982	0.979	T	0.54070	-0.8348	10	0.33940	T	0.23	-6.0135	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	54	Q96KT7	S35G5_HUMAN	M	54	ENSP00000371872:V54M	ENSP00000371872:V54M	V	+	1	0	SLC35G5	11226185	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.667000	0.37471	0.426000	0.26116	0.089000	0.15464	GTG		0.662	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		6	353	0	0	0	1	0	6	353					A	11188775	G	A	11188775	3	1	4	1	0	0	0	0	1	0	0	0	560	1145	40	1	162	1	AMAC1L2	8	11188775	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	2440002	11188775	135175247	56	459											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			11	328						11	328	---	---	---	---	-	30945379	AAG	-	30945377	7	5	4	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-2J-AAB8-01A-12D-A40W-08	19756602	30945377	115418645	57	460											
DDHD2	23259	broad.mit.edu	37	chr8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatgtacagaccgagatcttCaggaaataggaattccttta	8	7	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E|DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	425	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q425K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCGAGATCTTCAGGAAATAGG	0.368																																						ENST00000397166.2																			1	Substitution - Missense(1)	p.Q425K(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1273-1275)Cag>Gag		DDHD domain containing 2							69	67	68					8																	38107250		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38107250C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1273C>G	8.37:g.38107250C>G	ENSP00000380352:p.Gln425Glu					DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	p.Q425E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		11	1798	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	425			SAM.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1273C>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453824	0.43531	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.44881	0.91;0.91;0.91	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.113509	0.64402	D	0.000015	T	0.28333	0.0700	L	0.39147	1.195	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.006	T	0.10132	-1.0643	10	0.02654	T	1	-18.2805	9.4121	0.38498	0.2626:0.6029:0.1345:0.0	.	237;425	B4DSR3;O94830	.;DDHD2_HUMAN	E	425;425;237;44	ENSP00000380352:Q425E;ENSP00000429932:Q425E;ENSP00000429017:Q44E	ENSP00000380352:Q425E	Q	+	1	0	DDHD2	38226407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.445000	0.52921	2.744000	0.94065	0.655000	0.94253	CAG		0.368	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		13	125	0	0	0	1	0	13	125					G	38107250	C	G	38107250	3	3	4	1	0	0	0	0	1	0	0	0	4338	827	29	5	1373	5	DDHD2	8	38107250	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	7161873	38107250	108256772	58	461											
ZFHX4	79776	broad.mit.edu	37	chr8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcataagctgaaaaaAgttttgcaggaagcctccag	9	9	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTGAAAAAAGTTTTGCAGG	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4711-4713)aaA>aaT		zinc finger homeobox 4							42	40	41					8																	77763870		1913	4136	6049	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763870A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4713A>T	8.37:g.77763870A>T	ENSP00000430497:p.Lys1571Asn	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N	p.K1571N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5161	+			1526					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4713A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555228	0.27739	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.46;0.51;0.47;0.47	4.6	0.728	0.18260	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.46442	U	0.000298	T	0.63022	0.2476	L	0.57536	1.79	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	T	0.60782	-0.7195	10	0.56958	D	0.05	.	8.7254	0.34467	0.4063:0.0:0.5937:0.0	.	1526;1526;1571	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1571;1571;1526;1526;1545	ENSP00000430497:K1571N;ENSP00000399605:K1526N;ENSP00000050961:K1526N;ENSP00000430848:K1545N	ENSP00000050961:K1526N	K	+	3	2	ZFHX4	77926425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.862000	0.27899	0.260000	0.21731	-0.375000	0.07067	AAA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	132	0	0	0	1	0	10	132					T	77763870	A	T	77763870	3	4	4	1	0	0	0	0	1	0	0	0	17688	69	3	5	4747	5	ZFHX4	8	77763870	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	39656620	77763870	68600152	59	462											
ZFPM2	23414	broad.mit.edu	37	chr8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacatcatctccaaaggagaCtttccattggaggaaagctt	9	9	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	39					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAGGAGACTTTCCATTGG	0.423																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(115-117)gaC>gaG		zinc finger protein, FOG family member 2							101	98	99					8																	106431448		1851	4102	5953	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106431448C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.117C>G	8.37:g.106431448C>G	ENSP00000384179:p.Asp39Glu					ZFPM2_ENST00000520492.1_5'UTR	p.D39E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		2	367	+			39					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.117C>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361570	0.41801	.	.	ENSG00000169946	ENST00000407775	T	0.19394	2.15	5.37	5.37	0.77165	.	0.088240	0.42964	D	0.000630	T	0.10809	0.0264	N	0.05124	-0.11	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.20472	-1.0274	10	0.25106	T	0.35	.	12.4488	0.55666	0.0:0.9232:0.0:0.0768	.	39	Q8WW38	FOG2_HUMAN	E	39	ENSP00000384179:D39E	ENSP00000384179:D39E	D	+	3	2	ZFPM2	106500624	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.989000	0.49393	2.528000	0.85240	0.591000	0.81541	GAC		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			42	282	0	0	0	1	0	42	282					G	106431448	C	G	106431448	3	3	4	1	0	0	0	0	1	0	0	0	17711	564	20	5	123	5	ZFPM2	8	106431448	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	28667578	106431448	39932574	60	463											
CSMD3	114788	broad.mit.edu	37	chr8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacctatatatcttatccGgaagccttttttgttattgc	5	9	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2561	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCTTATCCGGAAGCCTTTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(7681-7683)Cgg>Tgg		CUB and Sushi multiple domains 3							111	115	114					8																	113326150		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326150G>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.7681C>T	8.37:g.113326150G>A	ENSP00000297405:p.Arg2561Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W	p.R2561W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			49	7925	-			2561			CUB 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7681C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222747	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	2.35	0.29111	CUB (5);	0.278292	0.30118	N	0.010380	T	0.38931	0.1059	L	0.51422	1.61	0.41494	D	0.988245	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.944;0.967;0.992	T	0.17745	-1.0359	10	0.45353	T	0.12	.	15.2984	0.73928	0.0:0.0:0.5384:0.4615	.	2457;2561;2521	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2521;2561;1831;2457;2491	ENSP00000345799:R2521W;ENSP00000297405:R2561W;ENSP00000341558:R1831W;ENSP00000412263:R2457W;ENSP00000343124:R2491W	ENSP00000297405:R2561W	R	-	1	2	CSMD3	113395326	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.785000	0.26830	0.624000	0.30286	0.579000	0.79373	CGG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	259	0	0	0	1	0	41	259					A	113326150	G	A	113326150	3	1	4	1	0	0	0	0	1	0	0	0	3957	1115	39	1	3534	1	CSMD3	8	113326150	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	6894702	113326150	33037872	61	464											
GSDMD	79792	broad.mit.edu	37	chr8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaggcccagggccgcAtgtgtgcactctacgcctcc	12	17	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L|GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	466				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCAGGGCCGCATGTGTGCACT	0.687																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1396-1398)Atg>Ttg		gasdermin D							35	31	32					8																	144645015		2195	4296	6491	SO:0001583	missense	79792							g.chr8:144645015A>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1396A>T	8.37:g.144645015A>T	ENSP00000433209:p.Met466Leu					GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L|GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L	p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			14	2279	+			466	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.1396A>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.958655	0.00465	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.13657	2.65;2.57;2.65	4.9	-3.65	0.04502	.	0.971022	0.08500	N	0.936553	T	0.02380	0.0073	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	-4.7448	6.4597	0.21950	0.3686:0.162:0.4693:0.0	.	466;466;514	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	466;514;466	ENSP00000433209:M466L;ENSP00000433958:M514L;ENSP00000262580:M466L	ENSP00000262580:M466L	M	+	1	0	GSDMD	144716158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.066000	0.14489	-0.378000	0.07918	-0.288000	0.09946	ATG		0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		11	91	0	0	0	1	0	11	91					T	144645015	A	T	144645015	3	4	4	1	0	0	0	0	1	0	0	0	6849	217	8	5	1434	5	GSDMD	8	144645015	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	31318865	144645015	1719007	62	465											
CDKN2A	1029	broad.mit.edu	37	chr9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-													gaccccgggccgcggccgtgGccagccagtcagccgaaggc					rs587782206		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		30	179						30	179	---	---	---	---	-	21974780	GCCA	-	21974777	7	5	4	1	0	1	0	1	0	0	0	0	3170	1203	42	0	633	0	CDKN2A	9	21974777	Frame_Shift_Del	DEL	GCCA	TCGA-2J-AAB8-01A-12D-A40W-08		21974777	119238654	63	466											
SPTLC1	10558	broad.mit.edu	37	chr9	94794825	94794825	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctctgtttgttccaccgtGaccacaacccgaatgctgag	8	14	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	448					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GTTCCACCGTGACCACAACCC	0.567																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1342-1344)gtC>gtT		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						158	129	139					9																	94794825		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94794825G>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1344C>T	9.37:g.94794825G>A							p.V448V	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			15	1349	-			448					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1344C>T	CCDS6692.1																																																																																				0.567	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		37	320	0	0	0	1	0	37	320					A	94794825	G	A	94794825	2	1	4	1	0	0	0	0	0	0	0	1	15175	1277	45	2		2	SPTLC1	9	94794825	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	72820048	94794825	46418606	64	467											
SEC16A	9919	broad.mit.edu	37	chr9	139360714	139360714	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaggcgccgccgcgtAcctggtgcgagtgggagctg	18	11	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000371706.3	-	5	3628		c.e5+1		SEC16A_ENST00000313050.7_Splice_Site|SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCGCCGCGTACCTGGTGCGA	0.622																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e5+1		SEC16 homolog A (S. cerevisiae)							7	10	9					9																	139360714		2154	4237	6391	SO:0001630	splice_region_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360714A>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3594+1T>C	9.37:g.139360714A>G						SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000371706.3_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	5	4202	-		Myeloproliferative disorder(178;0.0511)						A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Splice_Site	SNP	ENST00000371706.3	37			.	.	.	.	.	.	.	.	.	.	A	12.70	2.016902	0.35606	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000433860;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0933	0.72215	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC16A	138480535	1.000000	0.71417	0.950000	0.38849	0.057000	0.15508	6.084000	0.71335	2.168000	0.68352	0.528000	0.53228	.		0.622	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	Intron	5	41	0	0	0	1	0	5	41					G	139360714	A	G	139360714	5	3	4	1	0	0	0	0	0	0	1	0	14036	405	14	4	3047	4	SEC16A	9	139360714	Splice_Site	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	44565889	139360714	1852717	65	468											
OGDHL	55753	broad.mit.edu	37	chr10	50946068	50946068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtggagcagttgaccacGatccagttgcagtcatagag	14	8	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000419399.1_Silent_p.I757I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					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)			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						AGTTGACCACGATCCAGTTGC	0.622																																						ENST00000374103.4																			0				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						c.(2440-2442)atC>atT		oxoglutarate dehydrogenase-like							254	234	241					10																	50946068		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946068G>A	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.2442C>T	10.37:g.50946068G>A						OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000490844.1_5'UTR	p.I814I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			19	2527	-			814					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2442C>T	CCDS7234.1																																																																																				0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		48	1019	0	0	0	1	0	48	1019					A	50946068	G	A	50946068	2	1	4	1	0	0	0	0	0	0	0	1	10882	1048	37	1		1	OGDHL	10	50946068	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		50946068	84588679	66	469											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		7	483						7	483	---	---	---	---	-	102789811	G	-	102789811	7	5	4	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-2J-AAB8-01A-12D-A40W-08	51843743	102789811	32744936	67	470											
HMX2	3167	broad.mit.edu	37	chr10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-													cgtgtcctcggaggaggaggAgccggacgacggctggaagg							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	55					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GAGGAGGAGGAGCCGGACGACGGCTGG	0.71																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(163-171)gcfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124908058_124908064delAGCCGGA		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.164_170delAGCCGGA	10.37:g.124908058_124908064delAGCCGGA	ENSP00000341108:p.Glu55fs						p.EPD55fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	1	421_427	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	55					B2RNV5	Frame_Shift_Del	DEL	ENST00000339992.3	37	c.164_170delAGCCGGA	CCDS31305.1																																																																																				0.71	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		18	128						18	128	---	---	---	---	-	124908064	AGCCGGA	-	124908058	7	5	4	1	0	1	0	1	0	0	0	0	7277	304	11	0	166	0	HMX2	10	124908058	Frame_Shift_Del	DEL	AGCCGGA	TCGA-2J-AAB8-01A-12D-A40W-08	22118247	124908058	10626689	68	471											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	10	22	0	1	rs138454470	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687													a|||	16	0.00319489	0.0113	0.0014	5008	,	,		7650	0.0		0.0	False		,,,				2504	0.0					ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(103-105)Cgt>Tgt		keratin associated protein 5-2							28	36	33					11																	1619378		2153	4213	6366	SO:0001583	missense	440021					keratin filament		g.chr11:1619378G>A	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.103C>T	11.37:g.1619378G>A	ENSP00000400041:p.Arg35Cys					KRTAP5-AS1_ENST00000424148.1_RNA	p.R35C	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	146	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	35					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.103C>T	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.373233	0.42105	.	.	ENSG00000205867	ENST00000412090	T	0.00655	5.95	1.5	1.5	0.22942	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.30628	N	0.757796	.	.	.	.	.	.	T	0.38628	-0.9652	7	0.44086	T	0.13	.	4.9464	0.13991	0.8126:0.0:0.1874:0.0	.	35	Q701N4	KRA52_HUMAN	C	35	ENSP00000400041:R35C	ENSP00000400041:R35C	R	-	1	0	KRTAP5-2	1575954	0.000000	0.05858	0.659000	0.29680	0.640000	0.38277	-0.254000	0.08781	0.123000	0.18342	0.000000	0.15137	CGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		6	257	0	0	0	1	0	6	257					A	1619378	G	A	1619378	3	1	4	1	0	0	0	0	1	0	0	0	8592	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		1619378	133387138	69	472											
OR52M1	119772	broad.mit.edu	37	chr11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctggagtccctacacGtctggctctccatccccttt	9	16	2	0	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCTACACGTCTGGCTCTC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.001					ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(79-81)Gtc>Atc		olfactory receptor, family 52, subfamily M, member 1		G	ILE/VAL	0,4402		0,0,2201	107	96	100		79	-2.3	0	11	dbSNP_134	100	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR52M1	NM_001004137.1	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	27/318	4566499	1,12997	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566499G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.79G>A	11.37:g.4566499G>A	ENSP00000353343:p.Val27Ile						p.V27I	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	79	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	27						Missense_Mutation	SNP	ENST00000360213.1	37	c.79G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.289704	0.00248	0.0	1.16E-4	ENSG00000197790	ENST00000360213	T	0.00296	8.24	4.82	-2.26	0.06867	.	0.644741	0.13674	N	0.370680	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	.	6.5865	0.22624	0.4305:0.4103:0.1592:0.0	.	27	Q8NGK5	O52M1_HUMAN	I	27	ENSP00000353343:V27I	ENSP00000353343:V27I	V	+	1	0	OR52M1	4523075	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-1.630000	0.02028	-0.158000	0.11040	-0.294000	0.09567	GTC		0.542	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		6	257	0	0	0	1	0	6	257					A	4566499	G	A	4566499	3	1	4	1	0	0	0	0	1	0	0	0	11168	1145	40	1	81	1	OR52M1	11	4566499	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	2947121	4566499	130440017	70	473											
KCNA4	3739	broad.mit.edu	37	chr11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcctcttcaggcggcctCctgattgataataatacaag	9	11	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	238					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGGCGGCCTCCTGATTGATA	0.483																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(712-714)gGa>gAa		potassium voltage-gated channel, shaker-related subfamily, member 4							94	85	88					11																	30033513		1864	4119	5983	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033513C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.713G>A	11.37:g.30033513C>T	ENSP00000328511:p.Gly238Glu						p.G238E	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1946	-			238						Missense_Mutation	SNP	ENST00000328224.6	37	c.713G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291932	0.80914	.	.	ENSG00000182255	ENST00000328224	T	0.81247	-1.47	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.93827	0.7124	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	238	P22459	KCNA4_HUMAN	E	238	ENSP00000328511:G238E	ENSP00000328511:G238E	G	-	2	0	KCNA4	29990089	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GGA		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		52	674	0	0	0	1	0	52	674					T	30033513	C	T	30033513	3	4	4	1	0	0	0	0	1	0	0	0	8035	855	30	2	1252	2	KCNA4	11	30033513	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	25467014	30033513	104973003	71	474											
RAG1	5896	broad.mit.edu	37	chr11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccttcgacatctctgccGcatctgtgggaattctttta	7	12	3	0	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111	106	107					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His						p.R112H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		9	406	0	0	0	1	0	9	406					A	36595189	G	A	36595189	3	1	4	1	0	0	0	0	1	0	0	0	13053	1087	38	1	337	1	RAG1	11	36595189	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	6561676	36595189	98411327	72	475											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			9	134						9	134	---	---	---	---	-	119535680	CCT	-	119535678	7	5	4	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-2J-AAB8-01A-12D-A40W-08	82940489	119535678	15470838	73	476											
HSPA8	3312	broad.mit.edu	37	chr11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtattacgcttgatgaggAcagtcatgactccaccagca	10	10	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000532636.1	-	6	1354	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	HSPA8_ENST00000534624.1_Missense_Mutation_p.V412A|HSPA8_ENST00000526862.1_5'Flank|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	412					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGATGAGGACAGTCATGAC	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1234-1236)gTc>gCc		heat shock 70kDa protein 8							127	114	118					11																	122929855		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929855A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1235T>C	11.37:g.122929855A>G	ENSP00000437125:p.Val412Ala					HSPA8_ENST00000532636.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A	p.V412A	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	6	1511	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	412					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1235T>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	1.596	-0.527894	0.04112	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53;5.53;5.53;5.53	4.85	4.85	0.62838	.	0.073163	0.52532	D	0.000068	T	0.00875	0.0029	N	0.26092	0.79	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.46034	-0.9220	10	0.02654	T	1	-23.4681	14.7123	0.69241	1.0:0.0:0.0:0.0	.	412;412;412	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	A	412;266;412;412;412;176;393;3	ENSP00000437125:V412A;ENSP00000437189:V266A;ENSP00000432083:V412A;ENSP00000404372:V412A;ENSP00000227378:V412A;ENSP00000433316:V176A;ENSP00000433584:V393A;ENSP00000435908:V3A	ENSP00000227378:V412A	V	-	2	0	HSPA8	122435065	0.998000	0.40836	0.932000	0.37286	0.060000	0.15804	3.668000	0.54554	1.935000	0.56089	0.459000	0.35465	GTC		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			4	285	0	0	0	1	0	4	285					G	122929855	A	G	122929855	3	3	4	1	0	0	0	0	1	0	0	0	7446	275	10	4	721	4	HSPA8	11	122929855	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	3394177	122929855	12076661	74	477											
KCNA1	3736	broad.mit.edu	37	chr12	5021099	5021099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccatcgtcatcttttgCctggagacgctccccgagct	8	15	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	185					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(553-555)tgC>tgT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						84	80	81					12																	5021099		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021099C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.555C>T	12.37:g.5021099C>T						KCNA1_ENST00000543874.2_Intron	p.C185C	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1662	+			185					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.555C>T	CCDS8535.1																																																																																				0.582	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		5	343	0	0	0	1	0	5	343					T	5021099	C	T	5021099	2	4	4	1	0	0	0	0	0	0	0	1	8031	747	26	2		2	KCNA1	12	5021099	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		5021099	128830796	75	478											
GSG1	83445	broad.mit.edu	37	chr12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggacccaagttgacagtCgcttggaagacttgtgaata	11	8	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000396310.2_Silent_p.A161A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTGACAGTCGCTTGGAAGA	0.507																																						ENST00000396302.3																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(700-702)Gac>Aac		germ cell associated 1							133	115	121					12																	13240148		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13240148C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.700G>A	12.37:g.13240148C>T	ENSP00000379596:p.Asp234Asn					GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000396310.2_Silent_p.A161A	p.D234N	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	5	898	-		Prostate(47;0.183)	0					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000396302.3	37	c.700G>A	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030023	0.07543	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543	T;T	0.38240	1.16;1.15	5.2	-0.697	0.11284	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05550	-1.0878	8	0.36615	T	0.2	.	7.5868	0.27998	0.0:0.1412:0.4491:0.4097	.	270;270;234	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	N	234;270;231	ENSP00000379596:D234N;ENSP00000336857:D270N	ENSP00000336857:D270N	D	-	1	0	GSG1	13131415	0.994000	0.37717	0.994000	0.49952	0.812000	0.45895	0.278000	0.18753	0.004000	0.14682	-0.477000	0.04895	GAC		0.507	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	NM_031289		79	430	0	0	0	1	0	79	430					T	13240148	C	T	13240148	3	4	4	1	0	0	0	0	1	0	0	0	6850	884	31	1	412	1	GSG1	12	13240148	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	8219049	13240148	120611747	76	479											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	187	0	0	0	1	0	18	187					G	25398285	C	G	25398285	3	3	4	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	12158137	25398285	108453610	77	480											
MLL2	8085	broad.mit.edu	37	chr12	49416473	49416473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttctaggtccttggctGcatagagccccaggccctgg	12	13	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:49416473G>A	ENST00000301067.7	-	51	16237	c.16238C>T	c.(16237-16239)gCa>gTa	p.A5413V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5413	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCCTTGGCTGCATAGAGCCC	0.552																																						ENST00000301067.7																			0											c.(16237-16239)gCa>gTa		lysine (K)-specific methyltransferase 2D							137	147	144					12																	49416473		2032	4177	6209	SO:0001583	missense	8085							g.chr12:49416473G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16238C>T	12.37:g.49416473G>A	ENSP00000301067:p.Ala5413Val						p.A5413V	NM_003482.3	NP_003473.3					51	16237	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16238C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155372	0.57259	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.91407	-2.84;-2.84	5.09	5.09	0.68999	SET domain (3);	0.000000	0.35739	N	0.003005	D	0.96358	0.8812	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97145	0.9827	10	0.87932	D	0	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	5413	O14686	MLL2_HUMAN	V	5413;94	ENSP00000301067:A5413V;ENSP00000435714:A94V	ENSP00000301067:A5413V	A	-	2	0	MLL2	47702740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.760000	0.98935	2.546000	0.85860	0.591000	0.81541	GCA		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	736	0	0	0	1	0	7	736					A	49416473	G	A	49416473	3	1	4	1	0	0	0	0	1	0	0	0	9662	1319	46	2	391	2	MLL2	12	49416473	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	24018188	49416473	84435422	78	481											
CSRNP2	81566	broad.mit.edu	37	chr12	51467710	51467710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagagtgtatagctccGtacagagttatggcgctggg	13	9	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:51467710G>A	ENST00000228515.1	-	3	604	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	103					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATAGCTCCGTACAGAGTTA	0.537																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(307-309)Cgg>Tgg		cysteine-serine-rich nuclear protein 2							86	87	87					12																	51467710		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467710G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.307C>T	12.37:g.51467710G>A	ENSP00000228515:p.Arg103Trp						p.R103W	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	604	-			103						Missense_Mutation	SNP	ENST00000228515.1	37	c.307C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896722	0.72639	.	.	ENSG00000110925	ENST00000228515;ENST00000548206;ENST00000548981	T;T;T	0.47528	2.38;0.84;2.38	5.2	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.83223	2.63	0.48632	D	0.999686	D	0.76494	0.999	P	0.59288	0.855	T	0.69296	-0.5182	10	0.87932	D	0	-17.3738	10.0406	0.42155	0.0774:0.0:0.7849:0.1377	.	103	Q9H175	CSRN2_HUMAN	W	103;9;103	ENSP00000228515:R103W;ENSP00000447983:R9W;ENSP00000447657:R103W	ENSP00000228515:R103W	R	-	1	2	CSRNP2	49753977	0.998000	0.40836	0.918000	0.36340	0.983000	0.72400	2.687000	0.46976	1.574000	0.49760	0.655000	0.94253	CGG		0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			5	469	0	0	0	1	0	5	469					A	51467710	G	A	51467710	3	1	4	1	0	0	0	0	1	0	0	0	3975	1144	40	1	1336	1	CSRNP2	12	51467710	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	2051237	51467710	82384185	79	482											
HNRNPA1	3178	broad.mit.edu	37	chr12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctagtctcctaaagagCccgaacagctgaggaagctc	9	13	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000340913.6	+	2	81	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P10S|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	10	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCTAAAGAGCCCGAACAGCT	0.488																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(28-30)Ccc>Tcc		heterogeneous nuclear ribonucleoprotein A1							75	79	78					12																	54675182		1942	4176	6118	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675182C>T	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.28C>T	12.37:g.54675182C>T	ENSP00000341826:p.Pro10Ser					HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P10S|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S	p.P10S			P09651	ROA1_HUMAN			2	643	+			10			Globular A domain.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.28C>T	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701605	0.88924	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.43	4.43	0.53597	.	0.000000	0.50627	D	0.000115	D	0.89167	0.6638	L	0.33189	0.99	0.54753	D	0.999987	D;D;P;B;D;D	0.58620	0.96;0.98;0.952;0.168;0.98;0.983	P;P;P;B;P;P	0.56278	0.575;0.716;0.575;0.191;0.716;0.795	D	0.90171	0.4235	10	0.59425	D	0.04	.	15.3753	0.74598	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	S	10;10;10;10;10;10;10;10;10;10;29	ENSP00000448617:P10S;ENSP00000448229:P10S;ENSP00000341826:P10S;ENSP00000333504:P10S;ENSP00000448117:P10S;ENSP00000447260:P10S;ENSP00000447782:P29S	ENSP00000333504:P10S	P	+	1	0	HNRNPA1	52961449	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.705000	0.84606	2.407000	0.81776	0.491000	0.48974	CCC		0.488	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		58	362	0	0	0	1	0	58	362					T	54675182	C	T	54675182	3	4	4	1	0	0	0	0	1	0	0	0	7287	739	26	2	34	2	HNRNPA1	12	54675182	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3207472	54675182	79176713	80	483											
ITGA7	3679	broad.mit.edu	37	chr12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggctccagctcccgcCgcctcctatccctactgtcc	8	20	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000555728.1	-	22	2898	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R957Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q			Q13683	ITA7_HUMAN	integrin, alpha 7	957	Poly-Arg.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCTCCCGCCGCCTCCTATC	0.597																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2869-2871)cGg>cAg		integrin, alpha 7							43	42	42					12																	56086734		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56086734C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2870G>A	12.37:g.56086734C>T	ENSP00000452387:p.Arg957Gln					ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R957Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q	p.R957Q			Q13683	ITA7_HUMAN			22	3089	-			957			Poly-Arg.		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2870G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.096296	0.94197	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.17	5.17	0.71159	Integrin alpha-2 (1);	0.262756	0.29861	N	0.011019	T	0.57169	0.2035	M	0.72353	2.195	0.34499	D	0.705846	D;P;D;D	0.60160	0.963;0.948;0.969;0.987	P;P;P;P	0.56612	0.745;0.768;0.802;0.776	T	0.69709	-0.5072	10	0.56958	D	0.05	.	14.1032	0.65070	0.0:1.0:0.0:0.0	.	820;957;917;976	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	917;913;907;820;957;917;913;786;957	ENSP00000452120:R917Q;ENSP00000257879:R913Q;ENSP00000343009:R907Q;ENSP00000393844:R820Q;ENSP00000257880:R957Q;ENSP00000377777:R917Q;ENSP00000377776:R913Q;ENSP00000452387:R957Q	ENSP00000257879:R913Q	R	-	2	0	ITGA7	54373001	0.899000	0.30636	1.000000	0.80357	0.989000	0.77384	1.504000	0.35726	2.706000	0.92434	0.585000	0.79938	CGG		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		17	187	0	0	0	1	0	17	187					T	56086734	C	T	56086734	3	4	4	1	0	0	0	0	1	0	0	0	7911	652	23	1	695	1	ITGA7	12	56086734	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	1411552	56086734	77765161	81	484											
SMARCC2	6601	broad.mit.edu	37	chr12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G													gtccaggggggggaacccctINSggtgggactgccccaggctg							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs					SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|RP11-977G19.5_ENST00000553176.1_RNA	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	304						10	304	---	---	---	---	G	56559128	-	G	56559127	7	5	4	1	0	1	1	0	0	0	0	0	14826	1567	55	0	542	0	SMARCC2	12	56559127	Frame_Shift_Ins	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08	472393	56559127	77292768	82	485											
GPR133	283383	broad.mit.edu	37	chr12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttatgagaacggtgctttcGatgagttcatcatctgggag	13	6	3	2	rs377562590		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	226					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGTGCTTTCGATGAGTTCAT	0.542																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(676-678)Gat>Tat		G protein-coupled receptor 133							153	142	146					12																	131471825		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131471825G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.676G>T	12.37:g.131471825G>T	ENSP00000261654:p.Asp226Tyr					GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	p.D226Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	6	1235	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		226					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.676G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355239	0.61293	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	D;D;D	0.82803	-1.65;-1.65;-1.65	4.46	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94367	0.7592	10	0.66056	D	0.02	.	16.1186	0.81325	0.0:0.0:1.0:0.0	.	258;226	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	226;166;258	ENSP00000261654:D226Y;ENSP00000442501:D166Y;ENSP00000444425:D258Y	ENSP00000261654:D226Y	D	+	1	0	GPR133	130037778	1.000000	0.71417	0.280000	0.24747	0.426000	0.31534	8.703000	0.91344	2.024000	0.59613	0.591000	0.81541	GAT		0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		9	383	1	0	1.58986e-06	1	1.64437e-06	9	383					T	131471825	G	T	131471825	3	4	4	1	0	0	0	0	1	0	0	0	6672	1058	37	3	698	3	GPR133	12	131471825	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	74912698	131471825	2380070	83	486											
LATS2	26524	broad.mit.edu	37	chr13	21562295	21562295	+	Missense_Mutation	SNP	G	G	T													ggggcccgcacggaggctctGctccatgcctgcgcacaggc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295G>T	ENST00000382592.4	-	4	2029	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGAGGCTCTGCTCCATGCCT	0.657																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1624-1626)Cag>Aag		large tumor suppressor kinase 2							62	63	63					13																	21562295		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562295G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1624C>A	13.37:g.21562295G>T	ENSP00000372035:p.Gln542Lys					LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	p.Q542K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2029	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	542						Missense_Mutation	SNP	ENST00000382592.4	37	c.1624C>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592668	0.46214	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58652	0.32;0.32	5.12	5.12	0.69794	.	0.189519	0.37577	N	0.002035	T	0.46288	0.1385	N	0.22421	0.69	0.45979	D	0.998794	P	0.47762	0.9	B	0.40940	0.344	T	0.42172	-0.9467	10	0.30854	T	0.27	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	542	Q9NRM7	LATS2_HUMAN	K	542	ENSP00000372035:Q542K;ENSP00000441817:Q542K	ENSP00000372035:Q542K	Q	-	1	0	LATS2	20460295	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.679000	0.61649	2.691000	0.91804	0.549000	0.68633	CAG		0.657	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			41	295	1	0	7.05121e-23	1	7.78213e-23	41	295					T	21562295	G	T	21562295	3	4	4	1	0	0	0	0	1	0	0	0	8678	1328	46	3	1662	3	LATS2	13	21562295	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		21562295	93607583	84	487	7	2									
LATS2	26524	broad.mit.edu	37	chr13	21562296	21562296	+	Silent	SNP	C	C	T													gggcccgcacggaggctctgCtccatgcctgcgcacaggct							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562296C>T	ENST00000382592.4	-	4	2028	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.E541E	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAGGCTCTGCTCCATGCCTG	0.657																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1621-1623)gaG>gaA		large tumor suppressor kinase 2							63	64	64					13																	21562296		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562296C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1623G>A	13.37:g.21562296C>T						LATS2_ENST00000542899.1_Silent_p.E541E	p.E541E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2028	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	541						Silent	SNP	ENST00000382592.4	37	c.1623G>A	CCDS9294.1																																																																																				0.657	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			43	295	0	0	0	1	0	43	295					T	21562296	C	T	21562296	2	4	4	1	0	0	0	0	0	0	0	1	8678	796	28	2		2	LATS2	13	21562296	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	1	21562296	93607582	85	488	7	2									
ARHGAP5	394	broad.mit.edu	37	chr14	32586406	32586406	+	Frame_Shift_Del	DEL	T	T	-													gaaattgggaaagtaattacTttgggatgcccctccaggat							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr14:32586406delT	ENST00000345122.3	+	3	4093	c.3778delT	c.(3778-3780)tttfs	p.F1260fs	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1260					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGTAATTACTTTGGGATGCC	0.343																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3778-3780)ttfs		Rho GTPase activating protein 5							89	93	91					14																	32586406		2203	4300	6503	SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32586406delT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3778delT	14.37:g.32586406delT	ENSP00000371897:p.Phe1260fs					ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000396582.2_Intron	p.F1260fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	3	4093	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1260					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	c.3778delT	CCDS32062.1																																																																																				0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		111	394						111	394	---	---	---	---	-	32586406	T	-	32586406	7	5	4	1	0	1	0	1	0	0	0	0	886	1609	56	0	3784	0	ARHGAP5	14	32586406	Frame_Shift_Del	DEL	T	TCGA-2J-AAB8-01A-12D-A40W-08		32586406	74763134	86	489											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	212						8	212	---	---	---	---	-	88945630	TCC	-	88945628	7	5	4	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-2J-AAB8-01A-12D-A40W-08	56359222	88945628	18403912	87	490											
TJP1	7082	broad.mit.edu	37	chr15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcagttccagcgtctcGtggttcactctctattcatt	8	11	5	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	677	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCAGCGTCTCGTGGTTCACTC	0.393																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2029-2031)Cga>Tga		tight junction protein 1							115	109	111					15																	30020212		1895	4137	6032	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30020212G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2029C>T	15.37:g.30020212G>A	ENSP00000281537:p.Arg677*					TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*	p.R677*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	16	2503	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	677			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.2029C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	38	7.086799	0.98055	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.42	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9192	0.52783	0.0:0.0:0.419:0.581	.	.	.	.	X	677;681;677;677;677	.	.	R	-	1	2	TJP1	27807504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.681000	0.61663	1.366000	0.46076	0.655000	0.94253	CGA		0.393	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		31	255	0	0	0	1	0	31	255					A	30020212	G	A	30020212	4	1	4	1	0	0	0	0	0	1	0	0	15981	1153	40	1	3269	1	TJP1	15	30020212	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		30020212	72511180	88	491											
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttcttcatcaacaccGaaagggacgatgactatgct	8	12	3	1	rs566389840		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205	208	207					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		7	1277	0	0	0	1	0	7	1277					A	39885651	G	A	39885651	3	1	4	1	0	0	0	0	1	0	0	0	15905	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	9865439	39885651	62645741	89	492											
ATP8B4	79895	broad.mit.edu	37	chr15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttatggtctctggggtcCgggatttaaaaatgaaccca	11	7	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1537-1539)cGg>cAg		ATPase, class I, type 8B, member 4							118	121	120					15																	50223420		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50223420C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1538G>A	15.37:g.50223420C>T	ENSP00000284509:p.Arg513Gln					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	16	1679	-		all_lung(180;0.00183)	513					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1538G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000104043	ENST00000284509	T	0.72505	-0.66	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.90082	3.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89451	0.3730	10	0.87932	D	0	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	Q	513	ENSP00000284509:R513Q	ENSP00000284509:R513Q	R	-	2	0	ATP8B4	48010712	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.532000	0.81985	2.648000	0.89879	0.585000	0.79938	CGG		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		41	298	0	0	0	1	0	41	298					T	50223420	C	T	50223420	3	4	4	1	0	0	0	0	1	0	0	0	1198	652	23	1	2092	1	ATP8B4	15	50223420	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	10337769	50223420	52307972	90	493											
HCN4	10021	broad.mit.edu	37	chr15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctggacgcggtgcgcGcagtgggccatctcccggtc	16	15	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	755					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCGGTGCGCGCAGTGGGCCA	0.637																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2263-2265)tgC>tgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							49	55	53					15																	73616169		2198	4297	6495	SO:0001587	stop_gained	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616169G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2265C>A	15.37:g.73616169G>T	ENSP00000261917:p.Cys755*						p.C755*	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3258	-			755					Q9UMQ7	Nonsense_Mutation	SNP	ENST00000261917.3	37	c.2265C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	43	10.237229	0.99366	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.45	-4.57	0.03421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	5.844	0.18652	0.4255:0.0:0.4383:0.1362	.	.	.	.	X	755	.	ENSP00000261917:C755X	C	-	3	2	HCN4	71403222	0.001000	0.12720	0.425000	0.26659	0.252000	0.25951	-1.587000	0.02108	-1.258000	0.02471	0.305000	0.20034	TGC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		36	189	1	0	1.04352e-10	1	1.11104e-10	36	189					T	73616169	G	T	73616169	4	4	4	1	0	0	0	0	0	1	0	0	7029	1079	38	3	1350	3	HCN4	15	73616169	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	23392749	73616169	28915223	91	494											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	631						7	631	---	---	---	---	-	15729984	CCA	-	15729982	7	5	4	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-2J-AAB8-01A-12D-A40W-08		15729982	74624771	92	495											
UMOD	7369	broad.mit.edu	37	chr16	20355441	20355441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgttgaggtcacggatgatGatctcatctgccaggtagag	13	7	3	4			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000570689.1	-	6	1382	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000396134.2_Silent_p.I445I|UMOD_ENST00000424589.1_Silent_p.I445I			P07911	UROM_HUMAN	uromodulin	412	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGGATGATGATCTCATCTG	0.537																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1333-1335)atC>atT		uromodulin							174	145	155					16																	20355441		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355441G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1236C>T	16.37:g.20355441G>A						UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000570689.1_Silent_p.I412I	p.I445I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1458	-			412			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1335C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			18	256	0	0	0	1	0	18	256					A	20355441	G	A	20355441	2	1	4	1	0	0	0	0	0	0	0	1	17033	1280	45	2		2	UMOD	16	20355441	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4625459	20355441	69999312	93	496											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		8	3310						8	3310	---	---	---	---	-	28734581	GAG	-	28734579	7	5	4	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-2J-AAB8-01A-12D-A40W-08	8379138	28734579	61620174	94	497											
SRCAP	10847	broad.mit.edu	37	chr16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcccaatcacagagCcaagcagatgaagaggagga	14	8	1	4	rs374756213		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	538	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATCACAGAGCCAAGCAGATG	0.498																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1612-1614)agC>agG		Snf2-related CREBBP activator protein							94	93	93					16																	30723277		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723277C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1614C>G	16.37:g.30723277C>G	ENSP00000262518:p.Ser538Arg					SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		12	1999	+			538			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1614C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573060	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.79;-2.79	4.74	3.79	0.43588	.	0.097043	0.46442	D	0.000291	D	0.83078	0.5176	L	0.36672	1.1	0.28350	N	0.920921	P;P;P	0.37276	0.589;0.589;0.454	B;B;B	0.33454	0.108;0.164;0.079	T	0.74934	-0.3495	10	0.25751	T	0.34	-10.7481	10.4907	0.44750	0.0:0.9073:0.0:0.0927	.	538;538;538	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	538	ENSP00000262518:S538R;ENSP00000378499:S538R;ENSP00000343042:S538R	ENSP00000262518:S538R	S	+	3	2	SRCAP	30630778	0.997000	0.39634	1.000000	0.80357	0.863000	0.49368	0.795000	0.26972	1.355000	0.45865	0.563000	0.77884	AGC		0.498	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		33	274	0	0	0	1	0	33	274					G	30723277	C	G	30723277	3	3	4	1	0	0	0	0	1	0	0	0	15187	738	26	5	1652	5	SRCAP	16	30723277	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	1988698	30723277	59631476	95	498											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	373						8	373	---	---	---	---	-	67913769	CAG	-	67913767	7	5	4	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-2J-AAB8-01A-12D-A40W-08	37190490	67913767	22440986	96	499											
MARVELD3	91862	broad.mit.edu	37	chr16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagagaggctctatgcccGcaagggtctcacctggatgg	14	10	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	346	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCTATGCCCGCAAGGGTCTC	0.587																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1027-1029)cGc>cAc		MARVEL domain containing 3							65	60	62					16																	71674725		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674725G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1028G>A	16.37:g.71674725G>A	ENSP00000299952:p.Arg343His					PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	p.R343H	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	1071	+		Ovarian(137;0.125)	346			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1028G>A	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120380	0.94385	.	.	ENSG00000140832	ENST00000299952	D	0.86865	-2.18	5.79	5.79	0.91817	.	0.096682	0.64402	D	0.000001	D	0.93288	0.7861	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.93287	0.6665	9	0.59425	D	0.04	-23.7209	17.535	0.87827	0.0:0.0:1.0:0.0	.	343	Q96A59-2	.	H	343	ENSP00000299952:R343H	ENSP00000299952:R343H	R	+	2	0	MARVELD3	70232226	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.861000	0.75478	2.739000	0.93911	0.655000	0.94253	CGC		0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		5	264	0	0	0	1	0	5	264					A	71674725	G	A	71674725	3	1	4	1	0	0	0	0	1	0	0	0	9360	1087	38	1	1653	1	MARVELD3	16	71674725	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	3760958	71674725	18680028	97	500											
RPA1	6117	broad.mit.edu	37	chr17	1792037	1792037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgcatgtaccaagcctgCccgactcaggactgcaataa	8	13	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACCAAGCCTGCCCGACTCAGG	0.483								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1441-1443)tgC>tgT	Nucleotide excision repair (NER)	replication protein A1, 70kDa							132	111	118					17																	1792037		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1792037C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1443C>T	17.37:g.1792037C>T							p.C481C	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			14	1553	+			481					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.1443C>T	CCDS11014.1																																																																																				0.483	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		5	326	0	0	0	1	0	5	326					T	1792037	C	T	1792037	2	4	4	1	0	0	0	0	0	0	0	1	13586	747	26	2		2	RPA1	17	1792037	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		1792037	79403173	98	501											
PITPNM3	83394	broad.mit.edu	37	chr17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatcccaatgaggatgGcattcttcccttcagccatc	8	14	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	48					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AATGAGGATGGCATTCTTCCC	0.542																																						ENST00000262483.8																			0											c.(142-144)gCc>gTc									207	148	168					17																	6428759		2203	4300	6503	SO:0001583	missense	0							g.chr17:6428759G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.143C>T	17.37:g.6428759G>A	ENSP00000262483:p.Ala48Val					ACKR6_ENST00000421306.3_Intron	p.A48V	NM_031220.3	NP_112497.2					3	230	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.143C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175926	0.21704	.	.	ENSG00000091622	ENST00000262483	T	0.19806	2.12	4.67	4.67	0.58626	.	0.121347	0.53938	D	0.000043	T	0.32133	0.0819	L	0.34521	1.04	0.41624	D	0.988988	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.10636	T	0.68	.	15.866	0.79067	0.0:0.0:1.0:0.0	.	48	Q9BZ71	PITM3_HUMAN	V	48	ENSP00000262483:A48V	ENSP00000262483:A48V	A	-	2	0	PITPNM3	6369483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.935000	0.87658	2.538000	0.85594	0.460000	0.39030	GCC		0.542	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		6	380	0	0	0	1	0	6	380					A	6428759	G	A	6428759	3	1	4	1	0	0	0	0	1	0	0	0	11994	1203	42	2	2853	2	PITPNM3	17	6428759	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4636722	6428759	74766451	99	502											
DLG4	1742	broad.mit.edu	37	chr17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccggcctggtaccttctgGtttatactgagcgatgatcg	11	10	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399506.2	-	10	1371	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399510.2_Missense_Mutation_p.P437A			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	394					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTACCTTCTGGTTTATACTGA	0.547																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1309-1311)Cca>Gca		discs, large homolog 4 (Drosophila)							70	67	68					17																	7099798		2077	4198	6275	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099798G>C	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1180C>G	17.37:g.7099798G>C	ENSP00000382425:p.Pro394Ala					DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399506.2_Missense_Mutation_p.P394A	p.P437A	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			12	2161	-			394			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1309C>G		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552948	0.65425	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.53857	0.6;0.6;0.6	4.28	4.28	0.50868	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.69708	0.3141	M	0.72353	2.195	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.77;0.914	D;D;P;P	0.71656	0.953;0.974;0.632;0.698	T	0.74375	-0.3686	9	0.87932	D	0	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	434;394;391;437	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	A	394;391;437;437;334;437	ENSP00000382425:P394A;ENSP00000307471:P391A;ENSP00000382428:P437A	ENSP00000293813:P437A	P	-	1	0	DLG4	7040522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.210000	0.71456	0.563000	0.77884	CCA		0.547	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		38	195	0	0	0	1	0	38	195					C	7099798	G	C	7099798	3	2	4	1	0	0	0	0	1	0	0	0	4573	1261	44	5	1038	5	DLG4	17	7099798	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	671039	7099798	74095412	100	503											
TP53	7157	broad.mit.edu	37	chr17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacctccgtcatgtgctgtGactgcttgtagatggccatg	11	11	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000269305.4	-	5	686	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*	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	166	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(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)	CATGTGCTGTGACTGCTTGTA	0.632		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)	ENST00000420246.2		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"		56	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(1)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)	lung(18)|breast(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|liver(3)|stomach(2)|urinary_tract(2)|ovary(2)|skin(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						c.(496-498)tCa>tAa	Other conserved DNA damage response genes	tumor protein p53							54	54	54					17																	7578433		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578433G>T	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.497C>A	17.37:g.7578433G>T	ENSP00000269305:p.Ser166*	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_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*	p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	629	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	166		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.497C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721457	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.284727	0.34002	N	0.004360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3004	12.6801	0.56916	0.0803:0.0:0.9197:0.0	.	.	.	.	X	166;166;166;166;166;166;155;73;34;73;34	.	ENSP00000269305:S166X	S	-	2	0	TP53	7519158	0.909000	0.30893	0.776000	0.31678	0.112000	0.19704	4.756000	0.62205	1.513000	0.48852	0.655000	0.94253	TCA		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	223	1	0	5.5144e-22	1	6.04913e-22	56	223					T	7578433	G	T	7578433	4	4	4	1	0	0	0	0	0	1	0	0	16434	1294	45	3	801	3	TP53	17	7578433	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	478635	7578433	73616777	101	504											
DNAH2	146754	broad.mit.edu	37	chr17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctacgtgccattcggggGcaaaagcatgatcaccttta	10	10	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2475	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2475D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTCGGGGGCAAAAGCATG	0.512																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.G2475D(1)	kidney(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7423-7425)gGc>gAc		dynein, axonemal, heavy chain 2							143	123	130					17																	7696378		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696378G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7424G>A	17.37:g.7696378G>A	ENSP00000458355:p.Gly2475Asp					DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D	p.G2475D			Q9P225	DYH2_HUMAN			48	8884	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2475			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7424G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608500	0.87258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.64260	-0.09	4.39	4.39	0.52855	ATPase, AAA+ type, core (1);	0.127184	0.52532	D	0.000078	D	0.85071	0.5613	H	0.96430	3.82	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	D	0.90106	0.4188	10	0.72032	D	0.01	.	15.9412	0.79756	0.0:0.0:1.0:0.0	.	2475	Q9P225	DYH2_HUMAN	D	2475	ENSP00000373825:G2475D	ENSP00000353818:G2475D	G	+	2	0	DNAH2	7637103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.091000	0.94151	2.295000	0.77249	0.632000	0.83419	GGC		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	397	0	0	0	1	0	7	397					A	7696378	G	A	7696378	3	1	4	1	0	0	0	0	1	0	0	0	4618	1203	42	2	7610	2	DNAH2	17	7696378	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	117945	7696378	73498832	102	505											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		9	378						9	378	---	---	---	---	-	18167780	GCT	-	18167778	7	5	4	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-2J-AAB8-01A-12D-A40W-08	10471400	18167778	63027432	103	506											
IGFBP4	3487	broad.mit.edu	37	chr17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgccaaaattcgagaccGgagcaccagtgggggcaaga	13	11	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	149					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATTCGAGACCGGAGCACCAGT	0.602																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(445-447)cGg>cAg		insulin-like growth factor binding protein 4							76	71	73					17																	38609333		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38609333G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.446G>A	17.37:g.38609333G>A	ENSP00000269593:p.Arg149Gln					IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	p.R149Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		2	721	+		Breast(137;0.000496)	149					A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.446G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632840	0.47049	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.26223	1.75;2.1	5.92	4.88	0.63580	Thyroglobulin type-1 (1);	0.660269	0.15633	N	0.252297	T	0.18383	0.0441	N	0.19112	0.55	0.33413	D	0.578843	B	0.24043	0.096	B	0.09377	0.004	T	0.09840	-1.0656	10	0.35671	T	0.21	-4.9399	15.905	0.79419	0.0:0.0:0.8563:0.1437	.	149	P22692	IBP4_HUMAN	Q	49;149	ENSP00000437734:R49Q;ENSP00000269593:R149Q	ENSP00000269593:R149Q	R	+	2	0	IGFBP4	35862859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.924000	0.48876	2.818000	0.97014	0.655000	0.94253	CGG		0.602	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		4	197	0	0	0	1	0	4	197					A	38609333	G	A	38609333	3	1	4	1	0	0	0	0	1	0	0	0	7611	1116	39	1	452	1	IGFBP4	17	38609333	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	20441555	38609333	42585877	104	507											
MAPT	4137	broad.mit.edu	37	chr17	44060812	44060812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagagaggccggggagCaaggaggaggtggatgaaga	21	4	0	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000571987.1	+	5	642	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Silent_p.S214S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	214					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GGCCGGGGAGCAAGGAGGAGG	0.687																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(640-642)agC>agT		microtubule-associated protein tau							33	23	26					17																	44060812		2201	4300	6501	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060812C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.642C>T	17.37:g.44060812C>T						MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000571987.1_Silent_p.S214S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron	p.S214S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	964	+		Melanoma(429;0.216)	214					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.642C>T	CCDS11501.1																																																																																				0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		6	72	0	0	0	1	0	6	72					T	44060812	C	T	44060812	2	4	4	1	0	0	0	0	0	0	0	1	9338	709	25	2		2	MAPT	17	44060812	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	5451479	44060812	37134398	105	508											
PHB	5245	broad.mit.edu	37	chr17	47482526	47482526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctgccttggagtcgCcctcagcagagatgatggcc	13	13	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:47482526C>T	ENST00000300408.3	-	7	719	c.647G>A	c.(646-648)gGc>gAc	p.G216D	PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'Flank|RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	216					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTTGGAGTCGCCCTCAGCAGA	0.562																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(646-648)gGc>gAc		prohibitin							32	29	30					17																	47482526		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47482526C>T		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.647G>A	17.37:g.47482526C>T	ENSP00000300408:p.Gly216Asp					RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron	p.G216D	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		7	719	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		216					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.647G>A	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315333	0.81358	.	.	ENSG00000167085	ENST00000300408;ENST00000419140	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	H	0.96518	3.835	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	D	0.91374	0.5122	9	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	216	P35232	PHB_HUMAN	D	216	.	ENSP00000300408:G216D	G	-	2	0	PHB	44837525	1.000000	0.71417	0.993000	0.49108	0.386000	0.30323	7.588000	0.82629	2.602000	0.87976	0.655000	0.94253	GGC		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		15	115	0	0	0	1	0	15	115					T	47482526	C	T	47482526	3	4	4	1	0	0	0	0	1	0	0	0	11856	739	26	2	175	2	PHB	17	47482526	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3421714	47482526	33712684	106	509											
ACOX1	51	broad.mit.edu	37	chr17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctccttcatgtatgCgcccacaaactggaaggcat	9	11	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000301608.4	-	8	1096	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T|ACOX1_ENST00000537812.1_Missense_Mutation_p.A308T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	346					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCATGTATGCGCCCACAAAC	0.488																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(922-924)Gca>Aca		acyl-CoA oxidase 1, palmitoyl							156	148	150					17																	73947567		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73947567C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1036G>A	17.37:g.73947567C>T	ENSP00000301608:p.Ala346Thr					ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T|ACOX1_ENST00000301608.4_Missense_Mutation_p.A346T	p.A308T	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			8	1570	-			346					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.922G>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928597	0.18131	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69806	-0.43;-0.43;-0.43	5.72	2.1	0.27182	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.481838	0.25035	N	0.033647	T	0.42517	0.1206	N	0.16743	0.435	0.09310	N	1	B;B;B;B	0.23735	0.09;0.09;0.005;0.016	B;B;B;B	0.25987	0.065;0.065;0.007;0.01	T	0.20605	-1.0270	10	0.13853	T	0.58	-0.7919	4.8255	0.13414	0.1402:0.581:0.0:0.2789	.	278;308;346;346	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	T	346;346;308;346;278	ENSP00000301608:A346T;ENSP00000293217:A346T;ENSP00000441257:A308T	ENSP00000293217:A346T	A	-	1	0	ACOX1	71459162	0.180000	0.23148	0.027000	0.17364	0.863000	0.49368	1.554000	0.36266	0.137000	0.18759	0.462000	0.41574	GCA		0.488	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			5	470	0	0	0	1	0	5	470					T	73947567	C	T	73947567	3	4	4	1	0	0	0	0	1	0	0	0	158	768	27	1	974	1	ACOX1	17	73947567	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	26465041	73947567	7247643	107	510											
EVPL	2125	broad.mit.edu	37	chr17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgccagggccctgcaCgacccaggcgtgcgggtcag	14	18	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	450	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCCCTGCACGACCCAGGCG	0.662																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1348-1350)Gtg>Atg		envoplakin							20	22	21					17																	74014618		2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74014618C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1348G>A	17.37:g.74014618C>T	ENSP00000301607:p.Val450Met					EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			12	1601	-			450			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1348G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892323	0.72524	.	.	ENSG00000167880	ENST00000301607	T	0.72167	-0.63	5.12	5.12	0.69794	.	0.138638	0.48286	D	0.000181	D	0.84415	0.5467	M	0.78637	2.42	0.49213	D	0.999762	D;D	0.89917	1.0;1.0	D;D	0.69142	0.96;0.962	D	0.86389	0.1734	10	0.87932	D	0	-42.0999	18.9474	0.92627	0.0:1.0:0.0:0.0	.	450;450	B7ZLH8;Q92817	.;EVPL_HUMAN	M	450	ENSP00000301607:V450M	ENSP00000301607:V450M	V	-	1	0	EVPL	71526213	0.998000	0.40836	0.798000	0.32154	0.603000	0.37013	4.206000	0.58473	2.573000	0.86826	0.561000	0.74099	GTG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		13	66	0	0	0	1	0	13	66					T	74014618	C	T	74014618	3	4	4	1	0	0	0	0	1	0	0	0	5310	536	19	1	4797	1	EVPL	17	74014618	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	67051	74014618	7180592	108	511											
SMAD4	4089	broad.mit.edu	37	chr18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaccaaaacggccatcttCagcaccacccgcctatgccg	6	19	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.Q289*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGGCCATCTTCAGCACCACCC	0.463																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.Q289*(1)	pancreas(26)|stomach(3)|lung(3)|breast(3)|large_intestine(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(865-867)Cag>Tag		SMAD family member 4							106	93	98					18																	48584787		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584787C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.865C>T	18.37:g.48584787C>T	ENSP00000341551:p.Gln289*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron	p.Q289*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1403	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	289			SAD.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.865C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	41	8.836430	0.98972	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341551:Q289X	Q	+	1	0	SMAD4	46838785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CAG		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		21	362	0	0	0	1	0	21	362					T	48584787	C	T	48584787	4	4	4	1	0	0	0	0	0	1	0	0	14810	827	29	2	887	2	SMAD4	18	48584787	Nonsense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		48584787	29492461	109	512											
ZNF407	55628	broad.mit.edu	37	chr18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagcatctggctagtgCcggccacatgagaaatgagc	11	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		CTGGCTAGTGCCGGCCACATG	0.498																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4396-4398)gCc>gTc		zinc finger protein 407							37	41	39					18																	72347372		1917	4158	6075	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347372C>T	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.4397C>T	18.37:g.72347372C>T	ENSP00000299687:p.Ala1466Val					ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4397	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1466					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4397C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639450	0.87760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11495	2.77;3.22	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067772	0.56097	D	0.000026	T	0.14056	0.0340	N	0.04880	-0.145	0.39317	D	0.965188	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.66602	0.909;0.909;0.945	T	0.18808	-1.0325	10	0.44086	T	0.13	.	12.8789	0.58006	0.0:0.9256:0.0:0.0744	.	1466;1466;1466	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	1466	ENSP00000299687:A1466V;ENSP00000310359:A1466V	ENSP00000299687:A1466V	A	+	2	0	ZNF407	70476360	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	4.654000	0.61469	0.041000	0.15688	-0.482000	0.04802	GCC		0.498	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	77	0	0	0	1	0	4	77					T	72347372	C	T	72347372	3	4	4	1	0	0	0	0	1	0	0	0	17940	739	26	2	4399	2	ZNF407	18	72347372	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	23762585	72347372	5729876	110	513											
MKNK2	2872	broad.mit.edu	37	chr19	2041037	2041038	+	Splice_Site	INS	-	-	C													gcccgtgcggctggtactcaINSccccctgaacccaggggtgc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:2041037_2041038insC	ENST00000591601.1	-	11	1146		c.e11+1		MKNK2_ENST00000591588.1_Splice_Site|MKNK2_ENST00000309340.7_Splice_Site|MKNK2_ENST00000541165.1_Splice_Site|MKNK2_ENST00000588014.1_Splice_Site|MKNK2_ENST00000250896.3_Splice_Site|MKNK2_ENST00000591142.1_Splice_Site			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GCTGGTACTCACCCCCTGAACC	0.668																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.e12+1		MAP kinase interacting serine/threonine kinase 2																																				SO:0001630	splice_region_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041037_2041038insC	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1110+1->G	19.37:g.2041042_2041042dupC						MKNK2_ENST00000541165.1_Splice_Site|MKNK2_ENST00000309340.7_Splice_Site|MKNK2_ENST00000591588.1_Splice_Site|MKNK2_ENST00000591601.1_Splice_Site|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000588014.1_Splice_Site		NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_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)	12	1355	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)						Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Splice_Site	INS	ENST00000591601.1	37		CCDS12080.1																																																																																				0.668	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054	Intron	8	407						8	407	---	---	---	---	C	2041038	-	C	2041037	8	5	4	1	0	1	1	0	0	0	1	0	9646	173	6	0	392	0	MKNK2	19	2041037	Splice_Site	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08		2041037	57087946	111	514											
FSD1	79187	broad.mit.edu	37	chr19	4310553	4310553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcatggtggacttcgcGcaagagcggcagatgctaca	12	12	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:4310553G>A	ENST00000221856.6	+	6	597	c.450G>A	c.(448-450)gcG>gcA	p.A150A	FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	150	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTTCGCGCAAGAGCGGC	0.592																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(448-450)gcG>gcA		fibronectin type III and SPRY domain containing 1							82	71	75					19																	4310553		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310553G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.450G>A	19.37:g.4310553G>A						FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	p.A150A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	6	597	+			150			COS.		B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	c.450G>A	CCDS12127.1																																																																																				0.592	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		6	420	0	0	0	1	0	6	420					A	4310553	G	A	4310553	2	1	4	1	0	0	0	0	0	0	0	1	6097	1074	38	1		1	FSD1	19	4310553	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	2269516	4310553	54818430	112	515											
EMR1	2015	broad.mit.edu	37	chr19	6926610	6926610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctatggaatgcataaTcggtgagtgacatcctctct	11	9	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000381404.4_Silent_p.N688N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	740					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATGCATAATCGGTGAGTGA	0.502																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2218-2220)aaT>aaC		egf-like module containing, mucin-like, hormone receptor-like 1							148	120	130					19																	6926610		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926610T>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2220T>C	19.37:g.6926610T>C						EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000381404.4_Silent_p.N688N	p.N740N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			16	2257	+	all_hematologic(4;0.166)		740					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2220T>C	CCDS12175.1																																																																																				0.502	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			7	371	0	0	0	1	0	7	371					C	6926610	T	C	6926610	2	2	4	1	0	0	0	0	0	0	0	1	5122	1432	50	4		4	EMR1	19	6926610	Silent	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	2616057	6926610	52202373	113	516											
EPOR	2057	broad.mit.edu	37	chr19	11492697	11492697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgaagctcgacgtgtcGgctgtaggcagcgaacacca	14	12	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000222139.6	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000592375.2_Silent_p.A112A	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	112					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCGACGTGTCGGCTGTAGGCA	0.617																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(334-336)gcC>gcT		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						57	51	53					19																	11492697		2203	4300	6503	SO:0001819	synonymous_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492697G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.336C>T	19.37:g.11492697G>A						EPOR_ENST00000222139.6_Silent_p.A112A	p.A112A			P19235	EPOR_HUMAN			3	440	-			112					B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	c.336C>T	CCDS12260.1																																																																																				0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			33	229	0	0	0	1	0	33	229					A	11492697	G	A	11492697	2	1	4	1	0	0	0	0	0	0	0	1	5207	1103	39	1		1	EPOR	19	11492697	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4566087	11492697	47636286	114	517											
JUNB	3726	broad.mit.edu	37	chr19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccggatgtgcactaaaatgGaacagcccttctaccacgac	8	14	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	6					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACTAAAATGGAACAGCCCTT	0.662																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(16-18)Gaa>Taa		jun B proto-oncogene							39	37	38					19																	12902601		2203	4299	6502	SO:0001587	stop_gained	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12902601G>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.16G>T	19.37:g.12902601G>T	ENSP00000303315:p.Glu6*						p.E6*	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	292	+			6					Q96GH3	Nonsense_Mutation	SNP	ENST00000302754.4	37	c.16G>T	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821621	0.98507	.	.	ENSG00000171223	ENST00000302754	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2411	17.7449	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000303315:E6X	E	+	1	0	JUNB	12763601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.484000	0.83849	0.561000	0.74099	GAA		0.662	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		5	93	1	0	1.23904e-05	1	1.27424e-05	5	93					T	12902601	G	T	12902601	4	4	4	1	0	0	0	0	0	1	0	0	8000	1175	41	3	18	3	JUNB	19	12902601	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	1409904	12902601	46226382	115	518											
NWD1	284434	broad.mit.edu	37	chr19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaagctacgtctacttcCccaaaattggggacaaaaac	8	10	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000552788.1	+	15	3688	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000524140.2_Missense_Mutation_p.P1230S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1230							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTACTTCCCCAAAATTGG	0.512																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3688-3690)Ccc>Tcc		NACHT and WD repeat domain containing 1							89	78	82					19																	16910925		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910925C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3688C>T	19.37:g.16910925C>T	ENSP00000447224:p.Pro1230Ser					NWD1_ENST00000552788.1_Missense_Mutation_p.P1230S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S	p.P1230S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	4106	+			1230					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3688C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959887	0.74016	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	0.55;-0.45;0.55;2.27;1.74;2.27	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156902	0.43579	D	0.000556	T	0.68091	0.2963	N	0.12569	0.235	0.37668	D	0.923031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.71836	-0.4472	10	0.33141	T	0.24	-35.9247	16.6115	0.84884	0.0:1.0:0.0:0.0	.	1230;1230;1095	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	1095;1230;1188;1230;1024;1230;1095	ENSP00000428579:P1230S;ENSP00000447548:P1188S;ENSP00000369136:P1230S;ENSP00000428955:P1024S;ENSP00000447224:P1230S;ENSP00000340159:P1095S	ENSP00000340159:P1095S	P	+	1	0	NWD1	16771925	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.938000	0.48987	2.520000	0.84964	0.650000	0.86243	CCC		0.512	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		80	425	0	0	0	1	0	80	425					T	16910925	C	T	16910925	3	4	4	1	0	0	0	0	1	0	0	0	10823	623	22	2	3333	2	NWD1	19	16910925	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	4008324	16910925	42218058	116	519											
ZNF626	199777	broad.mit.edu	37	chr19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtatgaattAtcttatgcgtagtaaggtct	8	7	3	1	rs369061479		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1165-1167)aTa>aGa		zinc finger protein 626							58	61	60					19																	20807517		2137	4276	6413	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807517A>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1166T>G	19.37:g.20807517A>C	ENSP00000469958:p.Ile389Arg					CTC-513N18.7_ENST00000595094.1_lincRNA	p.I389R	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1312	-			389					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1166T>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.420587	0.00013	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.00072	-2.265	0.42855	D	0.994096	B	0.06786	0.001	B	0.13407	0.009	T	0.37888	-0.9686	8	0.02654	T	1	.	3.6201	0.08092	0.5901:0.4099:0.0:0.0	.	389	Q68DY1	ZN626_HUMAN	R	389;313;389	.	ENSP00000445201:I389R	I	-	2	0	ZNF626	20599357	0.000000	0.05858	0.055000	0.19348	0.055000	0.15305	-2.406000	0.01044	0.243000	0.21327	0.240000	0.17902	ATA		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	571	0	0	0	1	0	6	571					C	20807517	A	C	20807517	3	2	4	1	0	0	0	0	1	0	0	0	18103	449	16	4	424	4	ZNF626	19	20807517	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	3896592	20807517	38321466	117	520											
ZNF208	7757	broad.mit.edu	37	chr19	22154116	22154116	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaattaccttatgtttagtGaggattgagaacgtactaaa	9	4	0	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:22154116G>A	ENST00000397126.4	-	4	3868	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTGAGGATTGAGA	0.388																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3718-3720)ctC>ctT		zinc finger protein 208							47	51	49					19																	22154116		2116	4246	6362	SO:0001819	synonymous_variant	7757							g.chr19:22154116G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3720C>T	19.37:g.22154116G>A						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.L1240L	NM_007153.3	NP_009084.2					4	3868	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3720C>T	CCDS54240.1																																																																																				0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	410	0	0	0	1	0	5	410					A	22154116	G	A	22154116	2	1	4	1	0	0	0	0	0	0	0	1	17819	1277	45	2		2	ZNF208	19	22154116	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	1346599	22154116	36974867	118	521											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607462	55607462	+	Frame_Shift_Del	DEL	C	C	-													tcctcgtcctggatggggggCcccccagccccaccaggccg							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:55607462delC	ENST00000263433.3	-	8	1125	c.1110delG	c.(1108-1110)gggfs	p.G370fs	PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGATGGGGGGCCCCCCAGCCC	0.647																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1108-1110)ggfs		protein phosphatase 1, regulatory subunit 12C							46	58	54					19																	55607462		2203	4300	6503	SO:0001589	frameshift_variant	54776					cytoplasm		g.chr19:55607462delC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1110delG	19.37:g.55607462delC	ENSP00000263433:p.Gly370fs					PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs	p.G370fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1125	-			370						Frame_Shift_Del	DEL	ENST00000263433.3	37	c.1110delG	CCDS12916.1																																																																																				0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		7	586						7	586	---	---	---	---	-	55607462	C	-	55607462	7	5	4	1	0	1	0	1	0	0	0	0	12403	726	26	0	1298	0	PPP1R12C	19	55607462	Frame_Shift_Del	DEL	C	TCGA-2J-AAB8-01A-12D-A40W-08	33453346	55607462	3521521	119	522											
ADRA1D	146	broad.mit.edu	37	chr20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtaggttgctgtagtcgGccaattcgtaggcctggcag	14	11	0	0	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	562				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTGTAGTCGGCCAATTCGTA	0.667											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1684-1686)gCc>gTc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						34	37	36					20																	4202204		2203	4300	6503	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202204G>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1685C>T	20.37:g.4202204G>A	ENSP00000368766:p.Ala562Val		OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.A562V	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1801	-			562	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1685C>T	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618816	0.46736	.	.	ENSG00000171873	ENST00000379453	T	0.59364	0.27	3.62	-0.0134	0.13984	.	.	.	.	.	T	0.39279	0.1072	L	0.29908	0.895	0.23089	N	0.99832	B	0.27498	0.18	B	0.22601	0.04	T	0.20174	-1.0283	9	0.32370	T	0.25	.	6.836	0.23937	0.0:0.1711:0.5057:0.3231	.	562	P25100	ADA1D_HUMAN	V	562	ENSP00000368766:A562V	ENSP00000368766:A562V	A	-	2	0	ADRA1D	4150204	0.998000	0.40836	0.119000	0.21687	0.634000	0.38068	3.407000	0.52644	0.257000	0.21650	0.305000	0.20034	GCC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		5	239	0	0	0	1	0	5	239					A	4202204	G	A	4202204	3	1	4	1	0	0	0	0	1	0	0	0	336	1203	42	2	37	2	ADRA1D	20	4202204	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		4202204	58823316	120	523											
CRKL	1399	broad.mit.edu	37	chr22	21288172	21288172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttcctgggaatgatgcCgaagacctgccctttaaaaa	9	9	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	139	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATGATGCCGAAGACCTGC	0.502																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(415-417)gcC>gcA		v-crk avian sarcoma virus CT10 oncogene homolog-like							123	126	125					22																	21288172		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288172C>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"SH2 domain containing"	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.417C>A	22.37:g.21288172C>A							p.A139A	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	926	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	139			SH3 1.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.417C>A	CCDS13785.1																																																																																				0.502	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		26	386	1	0	3.7963e-18	1	4.13934e-18	26	386					A	21288172	C	A	21288172	2	1	4	1	0	0	0	0	0	0	0	1	3894	639	23	3		3	CRKL	22	21288172	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		21288172	30016394	121	524											
NUP50	10762	broad.mit.edu	37	chr22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaacatattgctgaacGttctgattccacccaatatg	7	11	1	2	rs563414031	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	408	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGCTGAACGTTCTGATTCC	0.393													.|||	2	0.000399361	0.0008	0.0	5008	,	,		14224	0.001		0.0	False		,,,				2504	0.0					ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1222-1224)Gtt>Att		nucleoporin 50kDa							98	82	87					22																	45580351		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45580351G>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1222G>A	22.37:g.45580351G>A	ENSP00000345895:p.Val408Ile					NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000407019.2_Missense_Mutation_p.V380I	p.V408I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	8	1688	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	408			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1222G>A	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	3.527	-0.096540	0.07010	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.61	3.54	0.40534	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.172748	0.51477	N	0.000084	T	0.15435	0.0372	N	0.01473	-0.845	0.35957	D	0.834318	B	0.02656	0.0	B	0.12156	0.007	T	0.09907	-1.0653	10	0.20519	T	0.43	-17.1865	8.726	0.34469	0.2845:0.0:0.7155:0.0	.	408	Q9UKX7	NUP50_HUMAN	I	408;380;158;380	ENSP00000345895:V408I;ENSP00000385555:V380I;ENSP00000406928:V158I;ENSP00000379403:V380I	ENSP00000345895:V408I	V	+	1	0	NUP50	43959015	1.000000	0.71417	0.040000	0.18447	0.925000	0.55904	3.592000	0.53993	0.849000	0.35215	0.655000	0.94253	GTT		0.393	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			21	241	0	0	0	1	0	21	241					A	45580351	G	A	45580351	3	1	4	1	0	0	0	0	1	0	0	0	10808	1145	40	1	1248	1	NUP50	22	45580351	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	24292179	45580351	5724215	122	525											
CSF2RA	1438	broad.mit.edu	37	chrX	1422850	1422850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcggctctgtgtacatTtatgtgctcctaatcgtggg	10	10	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	327					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(979-981)atT>atC		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						511	447	469					X																	1422850		2203	4296	6499	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1422850T>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.981T>C	X.37:g.1422850T>C						CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000361536.3_Intron	p.I327I			P15509	CSF2R_HUMAN			11	1167	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	327					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.981T>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578594	0.13686	.	.	ENSG00000198223	ENST00000381507	.	.	.	0.806	-0.189	0.13260	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	5	0.62326	D	0.03	.	3.1091	0.06352	0.0:0.6445:0.0:0.3555	.	.	.	.	S	283	.	ENSP00000370918:F283S	F	+	2	0	CSF2RA	1382850	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.764000	0.04735	-0.087000	0.12528	0.084000	0.15446	TTT		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			7	1261	0	0	0	1	0	7	1261					C	1422850	T	C	1422850	2	2	4	1	0	0	0	0	0	0	0	1	3945	1829	64	4		4	CSF2RA	23	1422850	Silent	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08		1422850	153847710	123	526											
PHEX	5251	broad.mit.edu	37	chrX	22117217	22117217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaatgtggtggtccgcGtcccgcagtactttaaagat	12	10	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	343					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGTGGTCCGCGTCCCGCAGTA	0.443																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1027-1029)Gtc>Atc		phosphate regulating endopeptidase homolog, X-linked							115	105	109					X																	22117217		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22117217G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1027G>A	X.37:g.22117217G>A	ENSP00000368682:p.Val343Ile					PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I	p.V343I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			9	1592	+			343					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1027G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801058	0.90538	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.46	5.46	0.80206	Peptidase M13 (1);	0.109879	0.64402	D	0.000008	T	0.71592	0.3358	L	0.39147	1.195	0.45995	D	0.998802	D;D	0.56746	0.977;0.964	B;P	0.44860	0.332;0.462	T	0.75836	-0.3177	10	0.62326	D	0.03	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	343;343	F5GXU4;P78562	.;PHEX_HUMAN	I	343;343;246;46	ENSP00000368682:V343I;ENSP00000440362:V343I;ENSP00000439418:V246I;ENSP00000443531:V46I	ENSP00000368682:V343I	V	+	1	0	PHEX	22027138	1.000000	0.71417	0.843000	0.33291	0.944000	0.59088	7.562000	0.82300	2.282000	0.76494	0.529000	0.55759	GTC		0.443	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		41	286	0	0	0	1	0	41	286					A	22117217	G	A	22117217	3	1	4	1	0	0	0	0	1	0	0	0	11861	1145	40	1	1061	1	PHEX	23	22117217	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	20694367	22117217	133153343	124	527											
UTY	7404	broad.mit.edu	37	chrY	15448217	15448218	+	Splice_Site	INS	-	-	A													ctgacttttatgaagcccctINSaaaaaaaaaaaattgaaatt							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													T	2	0.00162206	0.0	0.0029	1233	,	,		21976	0.002		0.0	False		,,,				1233	0.0				Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.e16-2		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked																																				SO:0001630	splice_region_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15448217_15448218insA	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1771-2->T	Y.37:g.15448228_15448228dupA						UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site		NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			16	2778	-								A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Splice_Site	INS	ENST00000331397.4	37		CCDS14783.1																																																																																				0.361	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	Intron	7	67						7	67	---	---	---	---	A	15448218	-	A	15448217	8	5	4	1	0	1	1	0	0	0	1	0	17161	1536	53	0	2589	0	UTY	24	15448217	Splice_Site	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08		15448217	43925349	125	528											
USP24	23358	broad.mit.edu	37	chr1	55562215	55562215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctcctccaaagcattcaTactccagggtctcgtcattt	5	13	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:55562215T>G	ENST00000294383.6	-	50	6016	c.6017A>C	c.(6016-6018)tAt>tCt	p.Y2006S	USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2006	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGCATTCATACTCCAGGGT	0.323																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6016-6018)tAt>tCt		ubiquitin specific peptidase 24							101	91	94					1																	55562215		1808	4073	5881	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55562215T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6017A>C	1.37:g.55562215T>G	ENSP00000294383:p.Tyr2006Ser					USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	p.Y2006S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			50	6016	-			2006					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6017A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861857	0.17178	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04454	3.62;3.62	6.06	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.05124	-0.11	0.58432	D	0.999995	B	0.27013	0.166	B	0.21151	0.033	T	0.37526	-0.9702	10	0.02654	T	1	.	12.2795	0.54755	0.127:0.0:0.0:0.873	.	1846	B7WPF4	.	S	2006;1846	ENSP00000294383:Y2006S;ENSP00000385700:Y1846S	ENSP00000294383:Y2006S	Y	-	2	0	USP24	55334803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.868000	0.69605	2.324000	0.78689	0.533000	0.62120	TAT		0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	208	0	0	0	1	0	7	208					G	55562215	T	G	55562215	3	3	5	1	0	0	0	0	1	0	0	0	17109	1406	49	4	1921	4	USP24	1	55562215	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08		55562215	193688406	1	529											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:100889837delC	ENST00000336454.3	+	5	724	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000370125.2_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)aafs		cell division cycle 14A							95	99	98					1																	100889837		2203	4300	6503	SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889837delC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.369delC	1.37:g.100889837delC	ENSP00000336739:p.Asn123fs					CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR	p.N123fs			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	ENST00000336454.3	37	c.369delC	CCDS769.1																																																																																				0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	483						7	483	---	---	---	---	-	100889837	C	-	100889837	7	5	5	1	0	1	0	1	0	0	0	0	3065	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-2J-AAB9-01A-11D-A40W-08	45327622	100889837	148360784	2	530											
LCE1A	353131	broad.mit.edu	37	chr1	152799998	152799998	+	Frame_Shift_Del	DEL	C	C	-													ccagccccctcccaagtgcaCccccaagtgccctcccaagt							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:152799998delC	ENST00000335123.2	+	1	50	c.50delC	c.(49-51)accfs	p.T17fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	17	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			cccaagtgcacccccaagtgc	0.622																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(49-51)acfs		late cornified envelope 1A							50	57	55					1																	152799998		2203	4300	6503	SO:0001589	frameshift_variant	353131				keratinization			g.chr1:152799998delC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.50delC	1.37:g.152799998delC	ENSP00000334869:p.Thr17fs						p.T17fs	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	50	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		17			Cys-rich.			Frame_Shift_Del	DEL	ENST00000335123.2	37	c.50delC	CCDS1028.1																																																																																				0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		8	301						8	301	---	---	---	---	-	152799998	C	-	152799998	7	5	5	1	0	1	0	1	0	0	0	0	8690	507	18	0	52	0	LCE1A	1	152799998	Frame_Shift_Del	DEL	C	TCGA-2J-AAB9-01A-11D-A40W-08	51910161	152799998	96450623	3	531											
ATP8B2	57198	broad.mit.edu	37	chr1	154306722	154306722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaaacaccgagtggtgcttCgggctggtcatctttgcagg	14	10	2	0	rs201913757		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:154306722C>T	ENST00000368489.3	+	10	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	262					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGTGCTTCGGGCTGGTCA	0.542																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(826-828)ttC>ttT		ATPase, aminophospholipid transporter, class I, type 8B, member 2							141	144	143					1																	154306722		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154306722C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.828C>T	1.37:g.154306722C>T						ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F	p.F276F	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	828	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		262					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.828C>T	CCDS1066.1																																																																																				0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		36	770	0	0	0	1	0	36	770					T	154306722	C	T	154306722	2	4	5	1	0	0	0	0	0	0	0	1	1196	883	31	1		1	ATP8B2	1	154306722	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1506724	154306722	94943899	4	532											
PAQR6	79957	broad.mit.edu	37	chr1	156215369	156215369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaaggagttgagtgCggcggcaggcacaaagaact	16	8	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:156215369C>T	ENST00000292291.5	-	5	627	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	157						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GAGTTGAGTGCGGCGGCAGGC	0.687																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(151-153)Gca>Aca		progestin and adipoQ receptor family member VI							31	35	34					1																	156215369		2201	4296	6497	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215369C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.469G>A	1.37:g.156215369C>T	ENSP00000292291:p.Ala157Thr					PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000292291.5_Missense_Mutation_p.A157T|PAQR6_ENST00000360733.2_Missense_Mutation_p.A51T	p.A51T	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			4	766	-	Hepatocellular(266;0.158)		157					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.151G>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630223	0.46944	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	4.2	3.26	0.37387	.	.	.	.	.	T	0.21801	0.0525	L	0.61036	1.89	0.30241	N	0.795024	P;P;P	0.42584	0.784;0.744;0.784	B;B;B	0.41332	0.121;0.354;0.121	T	0.02942	-1.1091	9	0.33141	T	0.24	.	11.2653	0.49106	0.0:0.9047:0.0:0.0953	.	154;51;157	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	T	157;51;51;51;133;154	ENSP00000292291:A157T;ENSP00000353961:A51T;ENSP00000338330:A51T;ENSP00000349474:A51T;ENSP00000357253:A133T;ENSP00000443167:A154T	ENSP00000292291:A157T	A	-	1	0	PAQR6	154481993	0.456000	0.25744	0.999000	0.59377	0.785000	0.44390	1.863000	0.39459	2.146000	0.66826	0.462000	0.41574	GCA		0.687	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		5	237	0	0	0	1	0	5	237					T	156215369	C	T	156215369	3	4	5	1	0	0	0	0	1	0	0	0	11481	768	27	1	920	1	PAQR6	1	156215369	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1908647	156215369	93035252	5	533											
F5	2153	broad.mit.edu	37	chr1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtttgtctggctgaAgtctagagaaagggttgtat	15	3	2	3			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220	242	235					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	1165	0	0	0	1	0	7	1165					G	169510463	A	G	169510463	3	3	5	1	0	0	0	0	1	0	0	0	5366	72	3	4	2861	4	F5	1	169510463	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08	13295094	169510463	79740158	6	534											
TNN	63923	broad.mit.edu	37	chr1	175086302	175086302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtgggcccagaaggggGcccaggagagcaagaaggct	18	9	0	3			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:175086302G>A	ENST00000239462.4	+	10	2460	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGAAGGGGGCCCAGGAGAG	0.577																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2347-2349)Gcc>Acc		tenascin N							84	83	84					1																	175086302		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086302G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2347G>A	1.37:g.175086302G>A	ENSP00000239462:p.Ala783Thr						p.A783T	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2460	+		Breast(1374;0.000962)	783			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2347G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.056	-0.194227	0.06259	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58358	0.34	5.37	-6.03	0.02185	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.976720	0.01961	N	0.043375	T	0.26738	0.0654	N	0.11870	0.19	0.09310	N	1	B	0.12630	0.006	B	0.21360	0.034	T	0.38200	-0.9672	10	0.02654	T	1	.	5.9009	0.18965	0.5468:0.0:0.1284:0.3248	.	783	Q9UQP3	TENN_HUMAN	T	783;606	ENSP00000239462:A783T	ENSP00000239462:A783T	A	+	1	0	TNN	173352925	0.000000	0.05858	0.000000	0.03702	0.770000	0.43624	-0.782000	0.04643	-1.089000	0.03073	-0.857000	0.03018	GCC		0.577	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	382	0	0	0	1	0	5	382					A	175086302	G	A	175086302	3	1	5	1	0	0	0	0	1	0	0	0	16375	1203	42	2	2381	2	TNN	1	175086302	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	5575839	175086302	74164319	7	535											
PRG4	10216	broad.mit.edu	37	chr1	186276216	186276216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacTcccaaggagcctacacccac	7	19	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:186276216T>C	ENST00000445192.2	+	7	1410	c.1365T>C	c.(1363-1365)acT>acC	p.T455T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T|PRG4_ENST00000367486.3_Silent_p.T412T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	455	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CACCCACCACTCCCAAGGAGC	0.652																																						ENST00000445192.2																			0				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						c.(1363-1365)acT>acC		proteoglycan 4							81	91	87					1																	186276216		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276216T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1365T>C	1.37:g.186276216T>C						PRG4_ENST00000367486.3_Silent_p.T412T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T	p.T455T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1410	+			455			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1365T>C	CCDS1369.1																																																																																				0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	405	0	0	0	1	0	8	405					C	186276216	T	C	186276216	2	2	5	1	0	0	0	0	0	0	0	1	12528	1538	54	4		4	PRG4	1	186276216	Silent	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08	11189914	186276216	62974405	8	536											
EPB41L5	57669	broad.mit.edu	37	chr2	120776837	120776837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgttagtgtggacttGccagtaagtaggtcttgctg	13	6	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:120776837G>A	ENST00000263713.5	+	2	391	c.177G>A	c.(175-177)ttG>ttA	p.L59L	EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GTGTGGACTTGCCAGTAAGTA	0.443																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(175-177)ttG>ttA		erythrocyte membrane protein band 4.1 like 5							209	204	205					2																	120776837		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776837G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.177G>A	2.37:g.120776837G>A						EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L	p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	391	+			59			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.177G>A	CCDS2130.1																																																																																				0.443	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		52	676	0	0	0	1	0	52	676					A	120776837	G	A	120776837	2	1	5	1	0	0	0	0	0	0	0	1	5175	1310	46	2		2	EPB41L5	2	120776837	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		120776837	122422536	9	537											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	357						8	357	---	---	---	---	-	202352352	T	-	202352352	7	5	5	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-2J-AAB9-01A-11D-A40W-08	81575515	202352352	40847021	10	538											
PARD3B	117583	broad.mit.edu	37	chr2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattctaggactcttcatcCgaggcattgaagacaacagc	10	10	3	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:205983664C>T	ENST00000406610.2	+	7	907	c.700C>T	c.(700-702)Cga>Tga	p.R234*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	234	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(700-702)Cga>Tga		par-3 family cell polarity regulator beta							81	77	78					2																	205983664		1835	4085	5920	SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983664C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.700C>T	2.37:g.205983664C>T	ENSP00000385848:p.Arg234*					PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*	p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	907	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	234			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	37	c.700C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.441097	0.96187	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.9455	0.79789	0.1361:0.8639:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340280:R234X	R	+	1	2	PARD3B	205691909	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.696000	0.54757	1.361000	0.45981	-0.188000	0.12872	CGA		0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		6	289	0	0	0	1	0	6	289					T	205983664	C	T	205983664	4	4	5	1	0	0	0	0	0	1	0	0	11486	644	23	1	726	1	PARD3B	2	205983664	Nonsense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	3631312	205983664	37215709	11	539											
FARSB	10056	broad.mit.edu	37	chr2	223489170	223489170	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaaatacatcctggtcaGaagtttggcaagattttctg	8	6	2	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:223489170G>A	ENST00000281828.6	-	12	1254	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	FARSB_ENST00000536361.1_Silent_p.L232L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	331	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCCTGGTCAGAAGTTTGGCA	0.338																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(991-993)Ctg>Ttg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						73	71	71					2																	223489170		2203	4300	6503	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223489170G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.991C>T	2.37:g.223489170G>A						FARSB_ENST00000536361.1_Silent_p.L232L	p.L331L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	12	1254	-		Renal(207;0.0183)	331			B5.		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.991C>T	CCDS2454.1																																																																																				0.338	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		12	204	0	0	0	1	0	12	204					A	223489170	G	A	223489170	2	1	5	1	0	0	0	0	0	0	0	1	5705	933	33	2		2	FARSB	2	223489170	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	17505506	223489170	19710203	12	540											
SPHKAP	80309	broad.mit.edu	37	chr2	228882726	228882726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccactggagttgtcaagGcaaatcgctgcaatttcagt	9	9	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:228882726G>A	ENST00000392056.3	-	7	2890	c.2844C>T	c.(2842-2844)tgC>tgT	p.C948C	SPHKAP_ENST00000344657.5_Silent_p.C948C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	948						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTGTCAAGGCAAATCGCTG	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2842-2844)tgC>tgT		SPHK1 interactor, AKAP domain containing							137	124	128					2																	228882726		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882726G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2844C>T	2.37:g.228882726G>A						SPHKAP_ENST00000344657.5_Silent_p.C948C	p.C948C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2890	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	948					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2844C>T	CCDS46537.1																																																																																				0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		5	531	0	0	0	1	0	5	531					A	228882726	G	A	228882726	2	1	5	1	0	0	0	0	0	0	0	1	15100	1195	42	2		2	SPHKAP	2	228882726	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	5393556	228882726	14316647	13	541											
GRIP2	80852	broad.mit.edu	37	chr3	14552768	14552768	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggggcagttgtccaggCggatattgtcaatggccagt	14	9	1	0	rs566897826		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:14552768C>T	ENST00000273083.3	-	0	1902							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTTGTCCAGGCGGATATTGTC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.001					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							80	83	82					3																	14552768		2073	4209	6282			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552768C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552768C>T										Q9C0E4	GRIP2_HUMAN			0	1902	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		16	158	0	0	0	1	0	16	158					T	14552768	C	T	14552768	1	4	5	0	1	0	0	0	0	0	0	0	6818	768	27	1		1	GRIP2	3	14552768	RNA	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		14552768	183469662	14	542											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A													ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		7	205						7	205	---	---	---	---	A	122433232	-	A	122433231	7	5	5	1	0	1	1	0	0	0	0	0	11500	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08	107880463	122433231	75589199	15	543											
MYLK	4638	broad.mit.edu	37	chr3	123345771	123345771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatgctgaaggcactgcGtgcagtccaggcggtttctg	15	9	1	1	rs374662467		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:123345771G>A	ENST00000475616.1	-	28	5131	c.5132C>T	c.(5131-5133)aCg>aTg	p.T1711M	MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360772.3_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1711	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			CT -> LA (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AAGGCACTGCGTGCAGTCCAG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21548	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4978-4980)aCg>aTg		myosin light chain kinase							104	86	92					3																	123345771		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345771G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5132C>T	3.37:g.123345771G>A	ENSP00000418335:p.Thr1711Met					MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1711M|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000470449.1_RNA	p.T1660M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	31	5357	-		Lung NSC(201;0.0496)	1711			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4979C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096308	0.76870	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66099	1.04;-0.19;1.04;-0.19;-0.19;-0.19	5.22	5.22	0.72569	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	0.71160	0.3307	L	0.31752	0.955	0.42283	D	0.992105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.978;0.978;0.978;0.978;0.991	T	0.73764	-0.3880	9	0.62326	D	0.03	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	1711;1591;1660;1642;1711	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1660;1711;1660;1642;511;1711	ENSP00000354004:T1660M;ENSP00000353452:T1711M;ENSP00000352088:T1660M;ENSP00000320622:T1642M;ENSP00000346846:T511M;ENSP00000418335:T1711M	ENSP00000320622:T1642M	T	-	2	0	MYLK	124828461	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.036000	0.64164	2.732000	0.93576	0.591000	0.81541	ACG		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		19	166	0	0	0	1	0	19	166					A	123345771	G	A	123345771	3	1	5	1	0	0	0	0	1	0	0	0	10097	1145	40	1	628	1	MYLK	3	123345771	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	912540	123345771	74676659	16	544											
MSL2	55167	broad.mit.edu	37	chr3	135913815	135913815	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaataaaaagcgtctcaccGcaaacacagcacgaaaggga	8	11	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:135913815G>A	ENST00000309993.2	-	1	873	c.141C>T	c.(139-141)tgC>tgT	p.C47C	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	47	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCGTCTCACCGCAAACACAGC	0.507																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e1+1		male-specific lethal 2 homolog (Drosophila)							156	164	161					3																	135913815		2203	4300	6503	SO:0001630	splice_region_variant	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913815G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.142+1C>T	3.37:g.135913815G>A							p.C47_splice	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			1	873	-			47					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Splice_Site	SNP	ENST00000309993.2	37	c.142_splice	CCDS33861.1																																																																																				0.507	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	Silent	7	740	0	0	0	1	0	7	740					A	135913815	G	A	135913815	5	1	5	1	0	0	0	0	0	0	1	0	9919	1101	38	1	1600	1	MSL2	3	135913815	Splice_Site	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	12568044	135913815	62108615	17	545											
MED12L	116931	broad.mit.edu	37	chr3	151107890	151107890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccagccccagcagcccGgctttttccttcagaaccaa	9	16	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:151107890G>A	ENST00000474524.1	+	36	5508	c.5470G>A	c.(5470-5472)Ggc>Agc	p.G1824S	MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1824						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCAGCCCGGCTTTTTCCT	0.502																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5470-5472)Ggc>Agc		mediator complex subunit 12-like							148	161	156					3																	151107890		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107890G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5470G>A	3.37:g.151107890G>A	ENSP00000417235:p.Gly1824Ser					MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	p.G1824S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5508	+			1824					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5470G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.37;0.23	5.75	-0.308	0.12773	Mediator complex, subunit Med12, catenin-binding (1);	0.320200	0.34110	N	0.004251	T	0.40886	0.1135	L	0.35723	1.085	0.23449	N	0.997655	B;B	0.32409	0.37;0.033	B;B	0.27380	0.079;0.038	T	0.22382	-1.0218	10	0.52906	T	0.07	-5.806	9.6232	0.39734	0.4167:0.0:0.5833:0.0	.	1684;1824	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1824;1684	ENSP00000417235:G1824S;ENSP00000273432:G1684S	ENSP00000273432:G1684S	G	+	1	0	MED12L	152590580	0.860000	0.29831	0.190000	0.23270	0.991000	0.79684	0.622000	0.24433	-0.386000	0.07821	0.655000	0.94253	GGC		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	683	0	0	0	1	0	32	683					A	151107890	G	A	151107890	3	1	5	1	0	0	0	0	1	0	0	0	9470	1116	39	1	5612	1	MED12L	3	151107890	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	15194075	151107890	46914540	18	546											
ABCF3	55324	broad.mit.edu	37	chr3	183904017	183904017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgacttgcgccgaaatcCtgcggagcgagttccccgaa	13	13	0	0	rs202156124		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:183904017C>T	ENST00000429586.2	+	1	207	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.L8L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	8					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCGAAATCCTGCGGAGCGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14308	0.0		0.001	False		,,,				2504	0.0					ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(22-24)Ctg>Ttg		ATP-binding cassette, sub-family F (GCN20), member 3							67	65	65					3																	183904017		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183904017C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.22C>T	3.37:g.183904017C>T						ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron	p.L8L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	207	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		8					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.22C>T	CCDS3254.1																																																																																				0.652	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		16	306	0	0	0	1	0	16	306					T	183904017	C	T	183904017	2	4	5	1	0	0	0	0	0	0	0	1	67	680	24	2		2	ABCF3	3	183904017	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	32796127	183904017	14118413	19	547											
FETUB	26998	broad.mit.edu	37	chr3	186370361	186370361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccccaaagaaaaagcaCgcactgctgagtgcccaggg	10	13	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:186370361C>T	ENST00000265029.3	+	7	1191	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	364					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R364C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGAAAAAGCACGCACTGCTGA	0.562																																						ENST00000265029.3																			1	Substitution - Missense(1)	p.R364C(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(1090-1092)Cgc>Tgc		fetuin B							51	55	54					3																	186370361		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370361C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1090C>T	3.37:g.186370361C>T	ENSP00000265029:p.Arg364Cys					FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA	p.R364C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	1191	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		364					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.1090C>T	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694262	0.48202	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.27	2.33	0.28932	.	0.527286	0.17286	N	0.179826	T	0.70979	0.3286	M	0.69823	2.125	0.09310	N	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66602	0.92;0.945;0.91	T	0.58707	-0.7589	10	0.87932	D	0	-7.428	4.7449	0.13033	0.2128:0.6758:0.0:0.1115	.	327;299;364	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	C	364;216;364;299;327	ENSP00000404288:R364C;ENSP00000443704:R216C;ENSP00000265029:R364C;ENSP00000371569:R299C;ENSP00000371571:R327C	ENSP00000265029:R364C	R	+	1	0	FETUB	187853055	0.000000	0.05858	0.170000	0.22879	0.001000	0.01503	0.050000	0.14120	1.169000	0.42739	-0.140000	0.14226	CGC		0.562	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		7	340	0	0	0	1	0	7	340					T	186370361	C	T	186370361	3	4	5	1	0	0	0	0	1	0	0	0	5846	536	19	1	1116	1	FETUB	3	186370361	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	2466344	186370361	11652069	20	548											
CCDC50	152137	broad.mit.edu	37	chr3	191098488	191098488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcataggctacccaggtgGacatgagagccgctcaagta	11	10	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:191098488G>A	ENST00000392455.3	+	7	1175	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	193						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TACCCAGGTGGACATGAGAGC	0.348																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(577-579)Gac>Aac		coiled-coil domain containing 50							86	93	91					3																	191098488		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191098488G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.577G>A	3.37:g.191098488G>A	ENSP00000376249:p.Asp193Asn					CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	p.D193N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	7	1175	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		193					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.577G>A	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634726	0.87660	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.55413	0.88;0.52	5.49	5.49	0.81192	.	0.109300	0.64402	D	0.000008	T	0.72930	0.3522	M	0.79258	2.445	0.38906	D	0.957439	D;D	0.89917	0.999;1.0	D;D	0.87578	0.951;0.998	T	0.77768	-0.2464	10	0.87932	D	0	.	14.8753	0.70491	0.0:0.0:1.0:0.0	.	193;369	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	N	193;369	ENSP00000376249:D193N;ENSP00000376250:D369N	ENSP00000376249:D193N	D	+	1	0	CCDC50	192581182	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.382000	0.66213	2.576000	0.86940	0.591000	0.81541	GAC		0.348	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		7	138	0	0	0	1	0	7	138					A	191098488	G	A	191098488	3	1	5	1	0	0	0	0	1	0	0	0	2827	1174	41	2	1135	2	CCDC50	3	191098488	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	4728127	191098488	6923942	21	549											
AFAP1	60312	broad.mit.edu	37	chr4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgtcccgctggggtggGcatagccgttggaggtgccc	18	12	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:7787976G>A	ENST00000360265.4	-	11	1709	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000420658.1_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1474-1476)gCc>gTc		actin filament associated protein 1							123	120	121					4																	7787976		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787976G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1475C>T	4.37:g.7787976G>A	ENSP00000353402:p.Ala492Val					AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V	p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1747	-			492					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1475C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063454	0.93898	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.19250	2.16;2.29;2.16;2.29	5.27	5.27	0.74061	.	0.110845	0.64402	D	0.000009	T	0.31295	0.0792	M	0.65975	2.015	0.58432	D	0.999994	P;B	0.51240	0.943;0.282	P;B	0.46144	0.505;0.047	T	0.04635	-1.0937	10	0.24483	T	0.36	-36.1517	18.916	0.92506	0.0:0.0:1.0:0.0	.	492;492	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	492	ENSP00000353402:A492V;ENSP00000410689:A492V;ENSP00000351245:A492V;ENSP00000371983:A492V	ENSP00000351245:A492V	A	-	2	0	AFAP1	7838876	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	8.762000	0.91711	2.462000	0.83206	0.650000	0.86243	GCC		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		5	495	0	0	0	1	0	5	495					A	7787976	G	A	7787976	3	1	5	1	0	0	0	0	1	0	0	0	353	1203	42	2	997	2	AFAP1	4	7787976	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		7787976	183366300	22	550											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444115	15444115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggaagttcatctgtGctttcccagggatctattac	9	11	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:15444115G>A	ENST00000444304.2	+	3	888	c.562G>A	c.(562-564)Gct>Act	p.A188T	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.A195T			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	188	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTTCATCTGTGCTTTCCCAGG	0.438																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(583-585)Gct>Act		C1q and tumor necrosis factor related protein 7							152	166	161					4																	15444115		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444115G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.562G>A	4.37:g.15444115G>A	ENSP00000388914:p.Ala188Thr					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.A188T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T	p.A195T	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	842	+			188			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.583G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656712	0.67586	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74842	-0.88;-0.88;-0.88	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.052703	0.85682	D	0.000000	T	0.72669	0.3489	N	0.21617	0.685	0.80722	D	1	P	0.51240	0.943	P	0.51516	0.672	T	0.69665	-0.5084	9	.	.	.	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	188	Q9BXJ2	C1QT7_HUMAN	T	195;188;188	ENSP00000295297:A195T;ENSP00000410722:A188T;ENSP00000388914:A188T	.	A	+	1	0	C1QTNF7	15053213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.748000	0.94277	0.655000	0.94253	GCT		0.438	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			48	838	0	0	0	1	0	48	838					A	15444115	G	A	15444115	3	1	5	1	0	0	0	0	1	0	0	0	1975	1319	46	2	593	2	C1QTNF7	4	15444115	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	7656139	15444115	175710161	23	551											
C4orf22	255119	broad.mit.edu	37	chr4	81791253	81791254	+	Frame_Shift_Ins	INS	-	-	A													tttgaagtctactttactggINSaaaaaaaagacttcttccaa					rs146690045		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:81791253_81791254insA	ENST00000358105.3	+	4	489_490	c.440_441insA	c.(439-444)ggaaaafs	p.GK147fs	C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.GK164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371																																						ENST00000358105.3																			1	Substitution - Missense(1)	p.G147E(1)	skin(1)	NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)gaafs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791253_81791254insA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.448dupA	4.37:g.81791261_81791261dupA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.E164fs	p.E147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	489_490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Ins	INS	ENST00000358105.3	37	c.440_441insA	CCDS3587.1																																																																																				0.371	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	441						7	441	---	---	---	---	A	81791254	-	A	81791253	7	5	5	1	0	1	1	0	0	0	0	0	2262	1174	41	0	454	0	C4orf22	4	81791253	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08	66347138	81791253	109363023	24	552											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	13	10	0	0	rs62344938		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	123	0	0	0	1	0	6	123					T	140811117	C	T	140811117	2	4	5	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	59019864	140811117	50343159	25	553											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	551						7	551	---	---	---	---	-	32090061	TCC	-	32090059	7	5	5	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08		32090059	148825201	26	554											
CARD6	84674	broad.mit.edu	37	chr5	40854341	40854341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctctcaacctaaatcCtctcagacaaaatcctgtca	4	15	3	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:40854341C>T	ENST00000254691.5	+	3	3106	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	969	Pro-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AACCTAAATCCTCTCAGACAA	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2905-2907)tcC>tcT		caspase recruitment domain family, member 6							241	264	256					5																	40854341		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854341C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2907C>T	5.37:g.40854341C>T						CARD6_ENST00000381677.3_Intron	p.S969S	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	3106	+			969			Pro-rich.		Q52LR2	Silent	SNP	ENST00000254691.5	37	c.2907C>T	CCDS3935.1																																																																																				0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			43	1100	0	0	0	1	0	43	1100					T	40854341	C	T	40854341	2	4	5	1	0	0	0	0	0	0	0	1	2657	668	24	2		2	CARD6	5	40854341	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	8764282	40854341	140060919	27	555											
WDR36	134430	broad.mit.edu	37	chr5	110459563	110459563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccatttttcattccaAcaattcctggccttgtaccc	4	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:110459563A>G	ENST00000513710.2	+	20	2381	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	WDR36_ENST00000506538.2_Missense_Mutation_p.T793A			Q8NI36	WDR36_HUMAN	WD repeat domain 36	793					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCATTCCAACAATTCCTGG	0.353																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2377-2379)Aca>Gca		WD repeat domain 36							120	122	122					5																	110459563		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110459563A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2377A>G	5.37:g.110459563A>G	ENSP00000424628:p.Thr793Ala					WDR36_ENST00000513710.2_Missense_Mutation_p.T793A	p.T793A	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	20	2950	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	793					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2377A>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419359	0.83559	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.80824	-1.42;-1.42	5.65	5.65	0.86999	Small-subunit processome, Utp21 (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.90801	0.4694	10	0.87932	D	0	-21.8617	16.1611	0.81712	1.0:0.0:0.0:0.0	.	793	Q8NI36	WDR36_HUMAN	A	793	ENSP00000423067:T793A;ENSP00000424628:T793A	ENSP00000423067:T793A	T	+	1	0	WDR36	110487462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.272000	0.75746	0.460000	0.39030	ACA		0.353	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		18	318	0	0	0	1	0	18	318					G	110459563	A	G	110459563	3	3	5	1	0	0	0	0	1	0	0	0	17344	43	2	4	2455	4	WDR36	5	110459563	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08	69605222	110459563	70455697	28	556											
EPB41L4A	64097	broad.mit.edu	37	chr5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagcaagggtttttgCaggatccagccaatactgtg	12	8	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGTTTTTGCAGGATCCAGC	0.338																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(220-222)Gca>Aca		erythrocyte membrane protein band 4.1 like 4A							193	180	184					5																	111616005		1843	4090	5933	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111616005C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.220G>A	5.37:g.111616005C>T	ENSP00000261486:p.Ala74Thr						p.A74T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	3	496	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	74			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.220G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008081	0.19199	.	.	ENSG00000129595	ENST00000261486	T	0.76709	-1.04	5.95	4.08	0.47627	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.284025	0.35262	N	0.003333	T	0.55337	0.1914	N	0.11000	0.08	0.29488	N	0.855849	B	0.18461	0.028	B	0.17722	0.019	T	0.47209	-0.9135	10	0.27082	T	0.32	.	6.3895	0.21579	0.149:0.6989:0.0:0.1521	.	74	Q9HCS5	E41LA_HUMAN	T	74	ENSP00000261486:A74T	ENSP00000261486:A74T	A	-	1	0	EPB41L4A	111643904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.000000	0.29770	1.524000	0.49035	0.655000	0.94253	GCA		0.338	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			7	781	0	0	0	1	0	7	781					T	111616005	C	T	111616005	3	4	5	1	0	0	0	0	1	0	0	0	5173	710	25	2	1924	2	EPB41L4A	5	111616005	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1156442	111616005	69299255	29	557											
PCDHA3	56145	broad.mit.edu	37	chr5	140183013	140183013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctggtgtgctccagcgCggtggggagctggtcatact	16	11	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:140183013C>T	ENST00000522353.2	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	744	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGCGCGGTGGGGAGC	0.637																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2230-2232)gCg>gTg									78	85	83					5																	140183013		2203	4300	6503	SO:0001583	missense	0							g.chr5:140183013C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2231C>T	5.37:g.140183013C>T	ENSP00000429808:p.Ala744Val					PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	p.A744V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2231	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2231C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999339	0.74818	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76709	-1.04;-1.04	4.16	3.22	0.36961	.	0.177603	0.26187	U	0.025825	D	0.85974	0.5822	M	0.93550	3.43	0.21020	N	0.999808	D;P	0.62365	0.991;0.714	P;B	0.56216	0.794;0.285	T	0.77048	-0.2732	10	0.34782	T	0.22	.	7.9252	0.29870	0.2451:0.6621:0.0:0.0928	.	744;744	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	744	ENSP00000429808:A744V;ENSP00000434086:A744V	ENSP00000429808:A744V	A	+	2	0	PCDHA3	140163197	0.005000	0.15991	1.000000	0.80357	0.975000	0.68041	0.359000	0.20233	2.039000	0.60335	0.467000	0.42956	GCG		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		23	468	0	0	0	1	0	23	468					T	140183013	C	T	140183013	3	4	5	1	0	0	0	0	1	0	0	0	11567	768	27	1	2233	1	PCDHA3	5	140183013	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	28567008	140183013	40732247	30	558											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacgacatcttcgagcGcatcgccggcgaggcttccc	11	15	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119	116	117					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His						p.R73H	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		7	745	0	0	0	1	0	7	745					A	26184241	G	A	26184241	3	1	5	1	0	0	0	0	1	0	0	0	7174	1087	38	1	220	1	HIST1H2BE	6	26184241	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		26184241	144930826	31	559											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	749						8	749	---	---	---	---	-	33411203	CAC	-	33411201	7	5	5	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-2J-AAB9-01A-11D-A40W-08	7226960	33411201	137703866	32	560											
CLIC5	53405	broad.mit.edu	37	chr6	45917054	45917054	+	Frame_Shift_Del	DEL	C	C	-													attgacgtctgtcttcacgtCcccgttgaaggtcaggaagg							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:45917054delC	ENST00000185206.6	-	3	867	c.715delG	c.(715-717)gacfs	p.D239fs	CLIC5_ENST00000544153.1_Frame_Shift_Del_p.D80fs|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.D80fs	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	239					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTCTTCACGTCCCCGTTGAAG	0.537																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(715-717)acfs		chloride intracellular channel 5							152	144	147					6																	45917054		2203	4300	6503	SO:0001589	frameshift_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917054delC	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.715delG	6.37:g.45917054delC	ENSP00000185206:p.Asp239fs					CLIC5_ENST00000544153.1_Frame_Shift_Del_p.D80fs|CLIC5_ENST00000339561.6_Frame_Shift_Del_p.D80fs	p.D239fs	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			3	867	-			239					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Frame_Shift_Del	DEL	ENST00000185206.6	37	c.715delG	CCDS47438.1																																																																																				0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			17	551						17	551	---	---	---	---	-	45917054	C	-	45917054	7	5	5	1	0	1	0	1	0	0	0	0	3538	855	30	0	533	0	CLIC5	6	45917054	Frame_Shift_Del	DEL	C	TCGA-2J-AAB9-01A-11D-A40W-08	12505853	45917054	125198013	33	561											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			10	406						10	406	---	---	---	---	A	80751897	-	A	80751896	7	5	5	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08	34834842	80751896	90363171	34	562											
TXLNB	167838	broad.mit.edu	37	chr6	139563774	139563774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctgcctactgggctcGcatgcaggcaccatggctgc	16	13	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:139563774G>A	ENST00000358430.3	-	10	2176	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	648						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TACTGGGCTCGCATGCAGGCA	0.652																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1942-1944)tgC>tgT		taxilin beta							62	67	65					6																	139563774		2203	4300	6503	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563774G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1944C>T	6.37:g.139563774G>A						RP1-225E12.3_ENST00000585874.1_RNA	p.C648C	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2176	-			648					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.1944C>T	CCDS34545.1																																																																																				0.652	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		16	650	0	0	0	1	0	16	650					A	139563774	G	A	139563774	2	1	5	1	0	0	0	0	0	0	0	1	16842	1079	38	1		1	TXLNB	6	139563774	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	58811878	139563774	31551293	35	563											
UTRN	7402	broad.mit.edu	37	chr6	144769847	144769849	+	In_Frame_Del	DEL	CCT	CCT	-													aaaaatctaagcaggaactgCctcctcctcctcccccaaag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:144769847_144769849delCCT	ENST00000367545.3	+	16	2014_2016	c.2014_2016delCCT	c.(2014-2016)cctdel	p.P677del		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	677	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P672H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGAACTGCCTCCTCCTCCTC	0.409																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.P672H(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2014-2016)del		utrophin																																				SO:0001651	inframe_deletion	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769847_144769849delCCT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2014_2016delCCT	6.37:g.144769856_144769858delCCT	ENSP00000356515:p.Pro677del						p.P677del	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	2014_2016	+		Ovarian(120;0.218)	677			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	In_Frame_Del	DEL	ENST00000367545.3	37	c.2014_2016delCCT	CCDS34547.1																																																																																				0.409	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	384						8	384	---	---	---	---	-	144769849	CCT	-	144769847	7	5	5	1	0	1	0	1	0	0	0	0	17157	739	26	0	2076	0	UTRN	6	144769847	In_Frame_Del	DEL	CCT	TCGA-2J-AAB9-01A-11D-A40W-08	5206073	144769847	26345220	36	564											
SYNJ2	8871	broad.mit.edu	37	chr6	158484842	158484842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcagaaaggcactttgCggatgaactgtcttgactgc	11	8	2	3			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:158484842C>T	ENST00000355585.4	+	9	1222	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	383	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGCACTTTGCGGATGAACTG	0.502																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1147-1149)Cgg>Tgg		synaptojanin 2							166	158	161					6																	158484842		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158484842C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1147C>T	6.37:g.158484842C>T	ENSP00000347792:p.Arg383Trp					SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W	p.R383W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	9	1222	+			383			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1147C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188294	0.78789	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.98	4.98	0.66077	Synaptojanin, N-terminal (1);	0.000000	0.56097	D	0.000035	T	0.68805	0.3041	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	D	0.85064	0.0936	10	0.87932	D	0	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	311;383;383;383	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	W	383;383;383;311	ENSP00000356089:R383W;ENSP00000356088:R383W;ENSP00000347792:R383W;ENSP00000388371:R311W	ENSP00000347792:R383W	R	+	1	2	SYNJ2	158404830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.324000	0.52022	2.327000	0.79052	0.456000	0.33151	CGG		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	524	0	0	0	1	0	6	524					T	158484842	C	T	158484842	3	4	5	1	0	0	0	0	1	0	0	0	15505	759	27	1	1181	1	SYNJ2	6	158484842	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	13714995	158484842	12630225	37	565											
TYW1	55253	broad.mit.edu	37	chr7	66474575	66474575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttggtcctattagggattCgcaacagttcttgctgaagc	10	8	1	1	rs376806090		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(277-279)ttC>ttT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							134	119	124					7																	66474575		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474575C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T							p.F93F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			4	443	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	93			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.279C>T	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		9	308	0	0	0	1	0	9	308					T	66474575	C	T	66474575	2	4	5	1	0	0	0	0	0	0	0	1	16872	883	31	1		1	TYW1	7	66474575	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		66474575	92664088	38	566											
ABCB1	5243	broad.mit.edu	37	chr7	87190672	87190672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttttgcatacgctAagagttctttatcagtaaat	6	9	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:87190672A>G	ENST00000265724.3	-	9	1151	c.734T>C	c.(733-735)tTa>tCa	p.L245S	ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	245	ABC transmembrane type-1 1. {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)			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)	TGCATACGCTAAGAGTTCTTT	0.318																																						ENST00000265724.3																			0				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						c.(733-735)tTa>tCa		ATP-binding cassette, sub-family B (MDR/TAP), 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)						60	60	60					7																	87190672		2202	4300	6502	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.chr7:87190672A>G	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.734T>C	7.37:g.87190672A>G	ENSP00000265724:p.Leu245Ser					ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	p.L245S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			9	1151	-	Esophageal squamous(14;0.00164)		245			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.734T>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	1.804	-0.476462	0.04414	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88896	-2.44;-2.44	5.74	-1.39	0.08997	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.288110	0.05571	N	0.571119	T	0.68879	0.3049	N	0.02368	-0.58	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.0;0.009	T	0.60265	-0.7297	10	0.09338	T	0.73	0.2998	4.5323	0.12011	0.2258:0.0:0.2567:0.5174	.	181;245	B5AK60;P08183	.;MDR1_HUMAN	S	26;245;181	ENSP00000265724:L245S;ENSP00000444095:L181S	ENSP00000265724:L245S	L	-	2	0	ABCB1	87028608	0.000000	0.05858	0.034000	0.17996	0.760000	0.43138	0.871000	0.28023	-0.139000	0.11414	-0.336000	0.08194	TTA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	185	0	0	0	1	0	10	185					G	87190672	A	G	87190672	3	3	5	1	0	0	0	0	1	0	0	0	40	372	13	4	3192	4	ABCB1	7	87190672	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08	20716097	87190672	71947991	39	567											
TRIP6	7205	broad.mit.edu	37	chr7	100466383	100466383	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgaggtgaagtctggggGcctggctataggagccagag	19	8	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100466383G>T	ENST00000200457.4	+	4	990	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	210					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGTCTGGGGGCCTGGCTATA	0.701																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(628-630)ggG>ggT		thyroid hormone receptor interactor 6							9	12	11					7																	100466383		1846	4081	5927	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466383G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.630G>T	7.37:g.100466383G>T							p.G210G	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			4	990	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		210					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.630G>T	CCDS5708.1																																																																																				0.701	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		8	97	1	0	5.18039e-06	1	5.27373e-06	8	97					T	100466383	G	T	100466383	2	4	5	1	0	0	0	0	0	0	0	1	16612	1190	42	3		3	TRIP6	7	100466383	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	13275711	100466383	58672280	40	568											
MUC17	140453	broad.mit.edu	37	chr7	100683249	100683249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactaaagccagttcatctcCtacaactgctgaaggtatcg	7	11	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100683249C>A	ENST00000306151.4	+	3	8616	c.8552C>A	c.(8551-8553)cCt>cAt	p.P2851H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2851	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2851H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACAACTGCT	0.507																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2851H(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8551-8553)cCt>cAt		mucin 17, cell surface associated							253	259	257					7																	100683249		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683249C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8552C>A	7.37:g.100683249C>A	ENSP00000302716:p.Pro2851His						p.P2851H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8616	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2851			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8552C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.484007	0.12581	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	1.21	0.267	0.15622	.	.	.	.	.	T	0.07324	0.0185	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.39035	-0.9633	9	0.33940	T	0.23	.	5.854	0.18710	0.0:0.8011:0.0:0.1989	.	2851	Q685J3	MUC17_HUMAN	H	2851	ENSP00000302716:P2851H	ENSP00000302716:P2851H	P	+	2	0	MUC17	100469969	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.015000	0.13355	0.090000	0.17273	0.134000	0.15878	CCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1280	1	0	0.014758	1	0.0148898	8	1280					A	100683249	C	A	100683249	3	1	5	1	0	0	0	0	1	0	0	0	10015	681	24	3	8562	3	MUC17	7	100683249	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	216866	100683249	58455414	41	569											
SSPO	23145	broad.mit.edu	37	chr7	149477126	149477126	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagtgggcaagaggggCggcagcaggctgtttgtgcc	19	9	0	1	rs376652882	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:149477126C>T	ENST00000378016.2	+	0	1303							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAAGAGGGGCGGCAGCAGGC	0.637													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		T		4,4092		0,4,2044	30	32	31		1305	2.4	0	7		31	0,8354		0,0,4177	no	coding-notMod3	SSPO	NM_198455.2		0,4,6221	TT,TC,CC		0.0,0.0977,0.0321			149477126	4,12446	2048	4177	6225			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477126C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477126C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1303	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	74	0	0	0	1	0	5	74					T	149477126	C	T	149477126	1	4	5	0	1	0	0	0	0	0	0	0	15241	759	27	1		1	SSPO	7	149477126	RNA	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	48793877	149477126	9661537	42	570											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	344						7	344	---	---	---	---	-	30945379	AAG	-	30945377	7	5	5	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-2J-AAB9-01A-11D-A40W-08		30945377	115418645	43	571											
KCNS2	3788	broad.mit.edu	37	chr8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatttctatcacaccgGcaagcttcacgtcatggctg	9	13	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.G88D(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(262-264)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							135	109	118					8																	99440470		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440470G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.263G>A	8.37:g.99440470G>A	ENSP00000287042:p.Gly88Asp					KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	613	+	Breast(36;2.4e-06)		88					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.263G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376631	0.82682	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.55930	0.49;0.49	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.055844	0.64402	D	0.000001	T	0.80864	0.4705	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85918	0.1444	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	88	Q9ULS6	KCNS2_HUMAN	D	88	ENSP00000287042:G88D;ENSP00000430712:G88D	ENSP00000287042:G88D	G	+	2	0	KCNS2	99509646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GGC		0.542	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		6	450	0	0	0	1	0	6	450					A	99440470	G	A	99440470	3	1	5	1	0	0	0	0	1	0	0	0	8119	1203	42	2	265	2	KCNS2	8	99440470	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	68495093	99440470	46923552	44	572											
VPS13B	157680	broad.mit.edu	37	chr8	100729436	100729436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttctactcagtataaaCgattttctccttaaaacaag	3	9	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:100729436C>T	ENST00000358544.2	+	37	6678	c.6567C>T	c.(6565-6567)aaC>aaT	p.N2189N	VPS13B_ENST00000357162.2_Silent_p.N2164N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2189					protein transport (GO:0015031)					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)			TCAGTATAAACGATTTTCTCC	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(6565-6567)aaC>aaT		vacuolar protein sorting 13 homolog B (yeast)							58	60	59					8																	100729436		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100729436C>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.6567C>T	8.37:g.100729436C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.N2164N	p.N2189N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	6678	+	Breast(36;3.73e-07)		2189					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.6567C>T	CCDS6280.1																																																																																				0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	208	0	0	0	1	0	15	208					T	100729436	C	T	100729436	2	4	5	1	0	0	0	0	0	0	0	1	17244	535	19	1		1	VPS13B	8	100729436	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1288966	100729436	45634586	45	573											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	195	0	0	0	1	0	5	195					A	33068870	G	A	33068870	2	1	5	1	0	0	0	0	0	0	0	1	14867	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		33068870	108144561	46	574											
TM9SF3	56889	broad.mit.edu	37	chr10	98336474	98336475	+	Frame_Shift_Ins	INS	-	-	T													ttcatggtaatgactgatacINSttttttttgaccccacacag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr10:98336474_98336475insT	ENST00000371142.4	-	2	430_431	c.214_215insA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATGACTGATACTTTTTTTTGAC	0.361																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)tatfs		transmembrane 9 superfamily member 3																																				SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336474_98336475insT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.215dupA	10.37:g.98336482_98336482dupT	ENSP00000360184:p.Ser72fs						p.Y72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430_431	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Ins	INS	ENST00000371142.4	37	c.214_215insA	CCDS7450.1																																																																																				0.361	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	471						7	471	---	---	---	---	T	98336475	-	T	98336474	7	5	5	1	0	1	1	0	0	0	0	0	16031	565	20	0	1610	0	TM9SF3	10	98336474	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08		98336474	37198273	47	575											
RELA	5970	broad.mit.edu	37	chr11	65421971	65421972	+	Frame_Shift_Ins	INS	-	-	G													agtggagcaggagctgggtcINSggggggcctctgggcccctg							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:65421971_65421972insG	ENST00000406246.3	-	11	1794_1795	c.1533_1534insC	c.(1531-1536)cccgacfs	p.D512fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.D509fs|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	512					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)	p.D512fs*35(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAGCTGGGTCGGGGGGCCTCT	0.624																																						ENST00000406246.3																			1	Deletion - Frameshift(1)	p.D512fs*35(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1531-1536)ccacccfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421971_65421972insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1534dupC	11.37:g.65421977_65421977dupG	ENSP00000384273:p.Asp512fs					RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.P509fs	p.P512fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1794_1795	-			512					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1533_1534insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		10	265						10	265	---	---	---	---	G	65421972	-	G	65421971	7	5	5	1	0	1	1	0	0	0	0	0	13266	884	31	0	125	0	RELA	11	65421971	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08		65421971	69584545	48	576											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		11	536						11	536	---	---	---	---	-	77069992	CAT	-	77069990	7	5	5	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2J-AAB9-01A-11D-A40W-08	11648019	77069990	57936526	49	577											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	162						8	162	---	---	---	---	-	119535680	CCT	-	119535678	7	5	5	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-2J-AAB9-01A-11D-A40W-08	42465688	119535678	15470838	50	578											
TAS2R30	259293	broad.mit.edu	37	chr12	11286041	11286041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaaggatagctgaatAtaatagcttggcagaacatg	13	4	0	3	rs201104140		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:11286041A>G	ENST00000539585.1	-	1	1202	c.803T>C	c.(802-804)aTa>aCa	p.I268T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	268					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATAGCTGAATATAATAGCTTG	0.408																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(802-804)aTa>aCa		taste receptor, type 2, member 30							136	145	142					12																	11286041		2170	4288	6458	SO:0001583	missense	259293							g.chr12:11286041A>G	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.803T>C	12.37:g.11286041A>G	ENSP00000444736:p.Ile268Thr					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I268T	NM_001097643.1	NP_001091112.1					1	1202	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.803T>C	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.392	-0.922915	0.02377	.	.	ENSG00000256188	ENST00000539585	T	0.35605	1.3	2.49	-4.97	0.03029	.	.	.	.	.	T	0.10723	0.0262	N	0.01091	-1.02	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30238	-0.9985	9	0.39692	T	0.17	.	6.8701	0.24115	0.2618:0.2847:0.4535:0.0	.	268	P59541	T2R30_HUMAN	T	268	ENSP00000444736:I268T	ENSP00000444736:I268T	I	-	2	0	TAS2R30	11177308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.718000	0.01875	-2.752000	0.00374	-3.087000	0.00065	ATA		0.408	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		34	528	0	0	0	1	0	34	528					G	11286041	A	G	11286041	3	3	5	1	0	0	0	0	1	0	0	0	15625	449	16	4	160	4	TAS2R30	12	11286041	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08		11286041	122565854	51	579											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	204	0	0	0	1	0	8	204					T	25398284	C	T	25398284	3	4	5	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	14112243	25398284	108453611	52	580											
KRT73	319101	broad.mit.edu	37	chr12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-													gttgcacttttatctcatggTttttttggtgggtgagctta							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			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)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				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						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239	258	252			2	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	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.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		8	892						8	892	---	---	---	---	-	53001991	T	-	53001991	7	5	5	1	0	1	0	1	0	0	0	0	8516	1725	60	0	14	0	KRT73	12	53001991	Frame_Shift_Del	DEL	T	TCGA-2J-AAB9-01A-11D-A40W-08	27603707	53001991	80849904	53	581											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	738						7	738	---	---	---	---	-	55615116	CTT	-	55615114	7	5	5	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-2J-AAB9-01A-11D-A40W-08	2613123	55615114	78236781	54	582											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	197						8	197	---	---	---	---	-	88945630	TCC	-	88945628	7	5	5	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08		88945628	18403912	55	583											
RIN3	79890	broad.mit.edu	37	chr14	93117957	93117960	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													ctcctcgctgaatcctccacAagaaagagggaagccagcag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:93117957_93117960delAAGA	ENST00000216487.7	+	6	722_725	c.563_566delAAGA	c.(562-567)caagaafs	p.QE188fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	188					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AATCCTCCACAAGAAAGAGGGAAG	0.623																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(562-567)cafs		Ras and Rab interactor 3																																				SO:0001589	frameshift_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93117957_93117960delAAGA	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.563_566delAAGA	14.37:g.93117961_93117964delAAGA	ENSP00000216487:p.Gln188fs					RIN3_ENST00000418924.2_3'UTR	p.QE188fs	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	722_725	+		all_cancers(154;0.0701)	188					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	c.563_566delAAGA	CCDS32144.1																																																																																				0.623	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			8	485						8	485	---	---	---	---	-	93117960	AAGA	-	93117957	7	5	5	1	0	1	0	1	0	0	0	0	13423	130	5	0	585	0	RIN3	14	93117957	Frame_Shift_Del	DEL	AAGA	TCGA-2J-AAB9-01A-11D-A40W-08	4172329	93117957	14231583	56	584											
CINP	51550	broad.mit.edu	37	chr14	102815068	102815068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagctccttcctgtaCatctccaagagcttatgcga	9	12	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:102815068C>T	ENST00000216756.6	-	5	505	c.465G>A	c.(463-465)atG>atA	p.M155I	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.M170I|CINP_ENST00000541568.2_Missense_Mutation_p.C112Y	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	155					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCTTCCTGTACATCTCCAAGA	0.527																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(463-465)atG>atA		cyclin-dependent kinase 2 interacting protein							68	47	54					14																	102815068		2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102815068C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.465G>A	14.37:g.102815068C>T	ENSP00000216756:p.Met155Ile					CINP_ENST00000541568.2_Missense_Mutation_p.C112Y|CINP_ENST00000536961.2_Missense_Mutation_p.M170I	p.M155I	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			5	505	-			155					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.465G>A	CCDS9972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477860|3.477860	0.63849|0.63849	.|.	.|.	ENSG00000100865|ENSG00000100865	ENST00000541568|ENST00000216756;ENST00000536961	.|T;T	.|0.51817	.|0.72;0.69	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.256618	.|0.46442	.|D	.|0.000283	T|T	0.55909|0.55909	0.1950|0.1950	M|M	0.73598|0.73598	2.24|2.24	0.31559|0.31559	N|N	0.657829|0.657829	.|P	.|0.49559	.|0.925	.|P	.|0.46758	.|0.526	T|T	0.69026|0.69026	-0.5254|-0.5254	6|10	0.52906|0.66056	T|D	0.07|0.02	.|.	14.4832|14.4832	0.67597|0.67597	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|155	.|Q9BW66	.|CINP_HUMAN	Y|I	112|155;170	.|ENSP00000216756:M155I;ENSP00000442057:M170I	ENSP00000442377:C112Y|ENSP00000216756:M155I	C|M	-|-	2|3	0|0	CINP|CINP	101884821|101884821	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.436000|0.436000	0.31835|0.31835	1.313000|1.313000	0.33585|0.33585	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.527	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		4	84	0	0	0	1	0	4	84					T	102815068	C	T	102815068	3	4	5	1	0	0	0	0	1	0	0	0	3440	478	17	2	177	2	CINP	14	102815068	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	9697111	102815068	4534472	57	585											
CCPG1	9236	broad.mit.edu	37	chr15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	TA	-													agtgtgaccaaagaagtgtcTatatatatattcatccaact							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr15:55651780_55651781delTA	ENST00000310958.6	-	8	2488_2489	c.2190_2191delTA	c.(2188-2193)tatagafs	p.YR730fs	CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	730					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2188-2193)tagafs		cell cycle progression 1																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55651780_55651781delTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2190_2191delTA	15.37:g.55651788_55651789delTA	ENSP00000311656:p.Tyr730fs					DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs	p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2488_2489	-			730					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	ENST00000310958.6	37	c.2190_2191delTA	CCDS42039.1																																																																																				0.332	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		8	204						8	204	---	---	---	---	-	55651781	TA	-	55651780	7	5	5	1	0	1	0	1	0	0	0	0	2947	1530	53	0	86	0	CCPG1	15	55651780	Frame_Shift_Del	DEL	TA	TCGA-2J-AAB9-01A-11D-A40W-08		55651780	46879612	58	586											
C16orf79	283870	broad.mit.edu	37	chr16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-													acccccacagcggccagcacCagcagcagcagcagcaggag					rs371145262		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.66	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	142						7	142	---	---	---	---	-	2260588	CAG	-	2260586	7	5	5	1	0	1	0	1	0	0	0	0	1841	581	21	0	589	0	C16orf79	16	2260586	In_Frame_Del	DEL	CAG	TCGA-2J-AAB9-01A-11D-A40W-08		2260586	88094167	59	587											
TEPP	374739	broad.mit.edu	37	chr16	58018681	58018681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacttcgtgtcctcggccGgggagttcaagctgccttgc	12	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:58018681G>A	ENST00000441824.2	+	4	629	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	TEPP_ENST00000290871.5_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	198						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GTCCTCGGCCGGGGAGTTCAA	0.682																																						ENST00000290871.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						c.(592-594)Ggg>Agg		testis, prostate and placenta expressed							34	27	30					16																	58018681		2198	4299	6497	SO:0001583	missense	374739					extracellular region		g.chr16:58018681G>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.592G>A	16.37:g.58018681G>A	ENSP00000401917:p.Gly198Arg					TEPP_ENST00000441824.2_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	p.G198R	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN			4	629	+			198					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.592G>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006870	0.54361	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59772	0.24;0.26	5.29	4.34	0.51931	.	0.285249	0.29948	N	0.010788	T	0.59715	0.2214	M	0.81682	2.555	0.09310	N	1	D;D	0.56287	0.975;0.975	B;B	0.43386	0.418;0.418	T	0.60042	-0.7340	10	0.59425	D	0.04	8.7723	10.1043	0.42524	0.0933:0.0:0.9067:0.0	.	198;198	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	R	198	ENSP00000290871:G198R;ENSP00000401917:G198R	ENSP00000290871:G198R	G	+	1	0	TEPP	56576182	0.766000	0.28496	0.091000	0.20842	0.959000	0.62525	1.217000	0.32455	1.229000	0.43630	-0.149000	0.13747	GGG		0.682	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		4	72	0	0	0	1	0	4	72					A	58018681	G	A	58018681	3	1	5	1	0	0	0	0	1	0	0	0	15812	1116	39	1	606	1	TEPP	16	58018681	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	55758095	58018681	32336072	60	588											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486445	76486445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaaccacaatctatgcCcgtgacttttctgagctcca	5	14	3	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:76486445C>T	ENST00000476707.1	+	7	1260	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P370L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	371					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAATCTATGCCCGTGACTTTT	0.393																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1108-1110)cCc>cTc		contactin associated protein-like 4							97	96	96					16																	76486445		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486445C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1121C>T	16.37:g.76486445C>T	ENSP00000417628:p.Pro374Leu					CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P374L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L	p.P370L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			9	1494	+			371					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1109C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.161570	0.78226	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.41294	D	0.000901	D	0.89192	0.6645	.	.	.	0.80722	D	1	D;D;P;D	0.89917	0.996;0.984;0.937;1.0	D;D;P;D	0.97110	0.977;0.909;0.533;1.0	D	0.89667	0.3881	9	0.87932	D	0	.	19.6434	0.95767	0.0:1.0:0.0:0.0	.	298;374;346;371	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	370;322;298;374	ENSP00000306893:P370L;ENSP00000439733:P322L;ENSP00000418741:P298L;ENSP00000417628:P374L	ENSP00000306893:P370L	P	+	2	0	CNTNAP4	75043946	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.376000	0.66178	2.880000	0.98712	0.655000	0.94253	CCC		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		20	357	0	0	0	1	0	20	357					T	76486445	C	T	76486445	3	4	5	1	0	0	0	0	1	0	0	0	3658	623	22	2	1155	2	CNTNAP4	16	76486445	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	18467764	76486445	13868308	61	589											
TP53	7157	broad.mit.edu	37	chr17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaaccgtagctgccctGgtaggttttctgggaaggga	15	8	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*	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	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	TAGCTGCCCTGGTAGGTTTTC	0.632		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)	ENST00000420246.2		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"		34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|liver(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						c.(310-312)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							54	54	54					17																	7579377		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579377G>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.310C>T	17.37:g.7579377G>A	ENSP00000269305:p.Gln104*	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_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*	p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	442	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	104		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.310C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	TP53	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	307	0	0	0	1	0	23	307					A	7579377	G	A	7579377	4	1	5	1	0	0	0	0	0	1	0	0	16434	1357	47	2	992	2	TP53	17	7579377	Nonsense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		7579377	73615833	62	590											
EVI2A	2123	broad.mit.edu	37	chr17	29645681	29645681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttgaaaatttcaccAtgacttttgcttgtgttttc	5	8	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:29645681A>G	ENST00000462804.2	-	2	750	c.351T>C	c.(349-351)caT>caC	p.H117H	NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Silent_p.H140H|EVI2A_ENST00000461237.1_Silent_p.H117H|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.W57R	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	117					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AAATTTCACCATGACTTTTGC	0.358																																						ENST00000578584.1																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)								c.(169-171)Tgg>Cgg									138	140	139					17																	29645681		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr17:29645681A>G	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.351T>C	17.37:g.29645681A>G						NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Silent_p.H117H|EVI2A_ENST00000461237.1_Silent_p.H117H|EVI2A_ENST00000247270.3_Silent_p.H140H|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.W57R							1	168	-								B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.169T>C	CCDS42293.1																																																																																				0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		33	501	0	0	0	1	0	33	501					G	29645681	A	G	29645681	2	3	5	1	0	0	0	0	0	0	0	1	5305	214	8	4		4	EVI2A	17	29645681	Silent	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08	22066304	29645681	51549529	63	591											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		7	221						7	221	---	---	---	---	-	34071996	TCC	-	34071994	7	5	5	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08	4426313	34071994	47123216	64	592											
KRT13	3860	broad.mit.edu	37	chr17	39658808	39658808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgcagggcatagcgGcactccgtctctgccaccgt	12	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:39658808G>A	ENST00000246635.3	-	6	1108	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	KRT13_ENST00000336861.3_Silent_p.C354C|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	354	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCATAGCGGCACTCCGTCT	0.607																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(1060-1062)tgC>tgT		keratin 13							108	93	98					17																	39658808		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658808G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1062C>T	17.37:g.39658808G>A						KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000336861.3_Silent_p.C354C	p.C354C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			6	1108	-		Breast(137;0.000286)	354			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.1062C>T	CCDS11396.1																																																																																				0.607	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	570	0	0	0	1	0	6	570					A	39658808	G	A	39658808	2	1	5	1	0	0	0	0	0	0	0	1	8480	1195	42	2		2	KRT13	17	39658808	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	5586814	39658808	41536402	65	593											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	254						7	254	---	---	---	---	-	12986929	TCC	-	12986927	6	5	5	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08		12986927	65090321	66	594											
FAM59A	64762	broad.mit.edu	37	chr18	29848632	29848632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagaaggacttccaaaCggggatttcaggtccacaga	11	10	2	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:29848632C>T	ENST00000269209.6	-	6	1836	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P	GAREM_ENST00000399218.4_Silent_p.P610P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	611					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GACTTCCAAACGGGGATTTCA	0.493																																						ENST00000399218.4																			0											c.(1828-1830)ccG>ccA		GRB2 associated, regulator of MAPK1							76	75	76					18																	29848632		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848632C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1833G>A	18.37:g.29848632C>T						GAREM_ENST00000269209.6_Silent_p.P611P	p.P610P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	1885	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1830G>A	CCDS56057.1																																																																																				0.493	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		21	260	0	0	0	1	0	21	260					T	29848632	C	T	29848632	2	4	5	1	0	0	0	0	0	0	0	1	5617	523	19	1		1	FAM59A	18	29848632	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	16861705	29848632	48228616	67	595											
FHOD3	80206	broad.mit.edu	37	chr18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggcggaggcgagcacCggggcctggaccgcagaagg	19	12	0	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:34205579C>T	ENST00000359247.4	+	10	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R355W(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697																																						ENST00000257209.4																			1	Substitution - Missense(1)	p.R355W(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1063-1065)Cgg>Tgg		formin homology 2 domain containing 3							44	49	47					18																	34205579		2203	4299	6502	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34205579C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1063C>T	18.37:g.34205579C>T	ENSP00000352186:p.Arg355Trp					FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000359247.4_Missense_Mutation_p.R355W|FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W	p.R355W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			10	1185	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	355			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1063C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056169	0.76074	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.35236	1.33;1.33;1.32	5.28	5.28	0.74379	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.269957	0.36167	N	0.002746	T	0.44891	0.1315	L	0.58101	1.795	0.32709	N	0.51179	D;D;D;D	0.71674	0.986;0.994;0.994;0.998	P;P;P;P	0.51657	0.471;0.614;0.502;0.676	T	0.61554	-0.7039	10	0.87932	D	0	.	11.5603	0.50772	0.1781:0.8219:0.0:0.0	.	355;355;355;355	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	W	355	ENSP00000257209:R355W;ENSP00000352186:R355W;ENSP00000411430:R355W	ENSP00000257209:R355W	R	+	1	2	FHOD3	32459577	1.000000	0.71417	0.114000	0.21550	0.842000	0.47809	3.935000	0.56560	2.469000	0.83416	0.655000	0.94253	CGG		0.697	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	271	0	0	0	1	0	11	271					T	34205579	C	T	34205579	3	4	5	1	0	0	0	0	1	0	0	0	5908	643	23	1	1101	1	FHOD3	18	34205579	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	4356947	34205579	43871669	68	596											
LONP1	25873	broad.mit.edu	37	chr19	5693658	5693658	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaggtgtaggctatgcGggcgctctccttcatcacct	13	12	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:5693658G>A	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Missense_Mutation_p.R751C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C|LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000360614.3_Missense_Mutation_p.R815C			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TAGGCTATGCGGGCGCTCTCC	0.622																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2443-2445)Cgc>Tgc		lon peptidase 1, mitochondrial							171	121	138					19																	5693658		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693658G>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693658G>A						LONP1_ENST00000593119.1_Missense_Mutation_p.R751C|LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C	p.R815C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			16	2600	-			815					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.2443C>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010693	0.75046	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.32023	1.47;1.47	4.33	1.95	0.26073	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.115139	0.53938	D	0.000041	T	0.56232	0.1971	M	0.92738	3.34	0.46678	D	0.999155	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.61328	0.887;0.826;0.887	T	0.63047	-0.6724	10	0.72032	D	0.01	-18.8119	9.1248	0.36807	0.0:0.0:0.3904:0.6096	.	815;751;815	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	C	815;779;619	ENSP00000353826:R815C;ENSP00000441523:R619C	ENSP00000351177:R779C	R	-	1	0	LONP1	5644658	1.000000	0.71417	0.930000	0.37139	0.912000	0.54170	4.354000	0.59417	0.719000	0.32188	0.549000	0.68633	CGC		0.622	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		16	255	0	0	0	1	0	16	255					A	5693658	G	A	5693658	1	1	5	0	1	0	0	0	0	0	0	0	8930	1116	39	1		1	LONP1	19	5693658	IGR	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		5693658	53435325	69	597											
ACTL9	284382	broad.mit.edu	37	chr19	8808452	8808452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgtaggtgaccccGtgtcccgtgtccaccaccag	12	15	0	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:8808452G>A	ENST00000324436.3	-	1	720	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	200						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGTGACCCCGTGTCCCGTGT	0.672																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(598-600)caC>caT		actin-like 9							47	44	45					19																	8808452		2203	4300	6503	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808452G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.600C>T	19.37:g.8808452G>A							p.H200H	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	720	-			200					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.600C>T	CCDS12207.1																																																																																				0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		19	271	0	0	0	1	0	19	271					A	8808452	G	A	8808452	2	1	5	1	0	0	0	0	0	0	0	1	203	1136	40	1		1	ACTL9	19	8808452	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	3114794	8808452	50320531	70	598											
ZNF100	163227	broad.mit.edu	37	chr19	21910701	21910701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaattgtcatgtccaTattttccatattttttcaga	4	7	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:21910701T>C	ENST00000358296.6	-	5	611	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTCATGTCCATATTTTCCATA	0.333																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(412-414)tAt>tGt		zinc finger protein 100							93	90	91					19																	21910701		1976	4199	6175	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910701T>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.413A>G	19.37:g.21910701T>C	ENSP00000351042:p.Tyr138Cys					ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C	p.Y138C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	611	-			138					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.413A>G	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.740479	0.00088	.	.	ENSG00000197020	ENST00000358296	T	0.04758	3.56	0.832	0.832	0.18867	.	.	.	.	.	T	0.01627	0.0052	N	0.02202	-0.64	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.46992	-0.9151	9	0.02654	T	1	.	6.5582	0.22471	0.0:0.0:0.0:1.0	.	138;192	Q8IYN0;Q4G131	ZN100_HUMAN;.	C	138	ENSP00000351042:Y138C	ENSP00000351042:Y138C	Y	-	2	0	ZNF100	21702541	0.000000	0.05858	0.040000	0.18447	0.037000	0.13140	-0.198000	0.09505	0.148000	0.19059	0.147000	0.16070	TAT		0.333	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	309	0	0	0	1	0	5	309					C	21910701	T	C	21910701	3	2	5	1	0	0	0	0	1	0	0	0	17766	1406	49	4	1219	4	ZNF100	19	21910701	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08	13102249	21910701	37218282	71	599											
KLK15	55554	broad.mit.edu	37	chr19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccatcgcgcttgcGcaggttgtgctctcccaggc	13	15	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51330383G>A	ENST00000598239.1	-	3	262	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KLK15_ENST00000301421.2_Missense_Mutation_p.R78C|KLK15_ENST00000326856.4_Missense_Mutation_p.R77C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	78	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(229-231)Cgc>Tgc		kallikrein-related peptidase 15							70	61	64					19																	51330383		2202	4298	6500	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330383G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.232C>T	19.37:g.51330383G>A	ENSP00000469315:p.Arg78Cys					KLK15_ENST00000598239.1_Missense_Mutation_p.R78C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C	p.R77C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	358	-		all_neural(266;0.057)	78			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.229C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329160	0.60743	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89415	-2.51;-2.51	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	D	0.000293	D	0.91778	0.7399	L	0.61218	1.895	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;D;P	0.65987	0.892;0.892;0.94;0.892	D	0.84525	0.0630	10	0.56958	D	0.05	.	10.1981	0.43067	0.0:0.0:0.8015:0.1985	.	78;77;78;78	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	78	ENSP00000415136:R78C;ENSP00000301421:R78C	ENSP00000301421:R78C	R	-	1	0	KLK15	56022195	0.000000	0.05858	0.999000	0.59377	0.951000	0.60555	0.118000	0.15605	2.519000	0.84933	0.561000	0.74099	CGC		0.632	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		8	472	0	0	0	1	0	8	472					A	51330383	G	A	51330383	3	1	5	1	0	0	0	0	1	0	0	0	8433	1087	38	1	550	1	KLK15	19	51330383	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	29419682	51330383	7798600	72	600											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	385						10	385	---	---	---	---	-	54675749	TCC	-	54675747	7	5	5	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08	3345364	54675747	4453236	73	601											
ASXL1	171023	broad.mit.edu	37	chr20	31023733	31023733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgagtatgtgcggtccGccaaaagatcccagattccc	10	13	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:31023733G>A	ENST00000375687.4	+	13	3642	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1073					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTGCGGTCCGCCAAAAGATC	0.572			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3217-3219)cGc>cAc		additional sex combs like 1 (Drosophila)							126	105	112					20																	31023733		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023733G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3218G>A	20.37:g.31023733G>A	ENSP00000364839:p.Arg1073His					ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	p.R1073H	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3642	+			1073					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3218G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530985	0.45073	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.32515	1.45;1.45	4.17	3.22	0.36961	.	0.398033	0.27696	N	0.018224	T	0.14356	0.0347	N	0.14661	0.345	0.27406	N	0.954705	P;P	0.46327	0.733;0.876	B;B	0.28638	0.092;0.082	T	0.11203	-1.0597	10	0.66056	D	0.02	-8.1008	13.3344	0.60509	0.0:0.8381:0.1619:0.0	.	1068;1073	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	1073;1073;1073;994;1068	ENSP00000364839:R1073H;ENSP00000305119:R1068H	ENSP00000305119:R1068H	R	+	2	0	ASXL1	30487394	0.043000	0.20138	0.202000	0.23494	0.973000	0.67179	1.798000	0.38814	1.347000	0.45714	-0.270000	0.10280	CGC		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		9	427	0	0	0	1	0	9	427					A	31023733	G	A	31023733	3	1	5	1	0	0	0	0	1	0	0	0	1067	1087	38	1	3274	1	ASXL1	20	31023733	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		31023733	32001787	74	602											
CSE1L	1434	broad.mit.edu	37	chr20	47704596	47704596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccataatcccctacatcCctactctcatcactcagctt	2	17	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:47704596C>T	ENST00000262982.2	+	17	1897	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	592					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCCCTACATCCCTACTCTCAT	0.358																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1774-1776)Cct>Tct		CSE1 chromosome segregation 1-like (yeast)							98	94	96					20																	47704596		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47704596C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1774C>T	20.37:g.47704596C>T	ENSP00000262982:p.Pro592Ser					CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	p.P592S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		17	1897	+			592					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1774C>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061197	0.36373	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.047464	0.85682	D	0.000000	T	0.53997	0.1831	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.41345	0.57;0.746;0.017;0.032;0.746	B;B;B;B;B	0.41988	0.255;0.372;0.105;0.064;0.372	T	0.50541	-0.8816	10	0.08599	T	0.76	-9.7713	16.5517	0.84474	0.0:0.8694:0.1306:0.0	.	281;375;536;536;592	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	S	190;592;375;536	ENSP00000262982:P592S;ENSP00000446477:P375S;ENSP00000379495:P536S	ENSP00000262982:P592S	P	+	1	0	CSE1L	47138003	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.689000	0.68234	1.336000	0.45506	-0.172000	0.13284	CCT		0.358	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		18	273	0	0	0	1	0	18	273					T	47704596	C	T	47704596	3	4	5	1	0	0	0	0	1	0	0	0	3941	623	22	2	1836	2	CSE1L	20	47704596	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	16680863	47704596	15320924	75	603											
MGAT3	4248	broad.mit.edu	37	chr22	39884148	39884148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaccttcgagtacatcCgccacaaggtgctctatgtc	9	13	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:39884148C>T	ENST00000341184.6	+	2	1011	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	266					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGTACATCCGCCACAAGGT	0.637																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(796-798)Cgc>Tgc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55	54	54					22																	39884148		2202	4300	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884148C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.796C>T	22.37:g.39884148C>T	ENSP00000345270:p.Arg266Cys						p.R266C	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1011	+	Melanoma(58;0.04)		266					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.796C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388329	0.82902	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	5.43	0.79202	.	0.065075	0.64402	D	0.000012	T	0.65873	0.2733	L	0.43152	1.355	0.58432	D	0.999995	D	0.76494	0.999	P	0.60609	0.877	T	0.68070	-0.5506	9	0.72032	D	0.01	.	14.1179	0.65167	0.1502:0.8498:0.0:0.0	.	266	Q09327	MGAT3_HUMAN	C	266	.	ENSP00000345270:R266C	R	+	1	0	MGAT3	38214094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.571000	0.86741	0.561000	0.74099	CGC		0.637	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		7	430	0	0	0	1	0	7	430					T	39884148	C	T	39884148	3	4	5	1	0	0	0	0	1	0	0	0	9585	652	23	1	798	1	MGAT3	22	39884148	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		39884148	11420418	76	604											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	280						7	280	---	---	---	---	-	40816889	TGC	-	40816887	7	5	5	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-2J-AAB9-01A-11D-A40W-08	932739	40816887	10487679	77	605											
PHF21B	112885	broad.mit.edu	37	chr22	45312324	45312324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagggcggcgggctcggCgagggcctggggctggctgc	24	11	0	0	rs374291941		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:45312324C>T	ENST00000313237.5	-	4	550	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	134							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGGCTCGGCGAGGGCCTGG	0.726																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(400-402)Gcc>Acc		PHD finger protein 21B		C	THR/ALA,THR/ALA,THR/ALA	0,4378		0,0,2189	16	21	19		400,364,400	0.2	0.2	22		19	2,8542		0,2,4270	no	missense,missense,missense	PHF21B	NM_138415.4,NM_001242450.1,NM_001135862.2	58,58,58	0,2,6459	TT,TC,CC		0.0234,0.0,0.0155	benign,benign,benign	134/532,122/478,134/490	45312324	2,12920	2189	4272	6461	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312324C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.400G>A	22.37:g.45312324C>T	ENSP00000324403:p.Ala134Thr					PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR	p.A134T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	550	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	134					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.400G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475266	0.12521	0.0	2.34E-4	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.82167	-1.58;-1.49;-1.49;1.51;0.84	4.68	0.208	0.15221	.	0.598227	0.16002	N	0.234261	T	0.66607	0.2806	L	0.29908	0.895	0.20074	N	0.999932	B;B;B;B	0.12013	0.003;0.004;0.002;0.005	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.46830	-0.9163	10	0.11182	T	0.66	-4.4072	6.0924	0.20001	0.0:0.5743:0.1259:0.2999	.	122;134;122;134	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	134;134;122;122;122	ENSP00000324403:A134T;ENSP00000379410:A134T;ENSP00000385105:A122T;ENSP00000388619:A122T;ENSP00000401294:A122T	ENSP00000324403:A134T	A	-	1	0	PHF21B	43690988	0.001000	0.12720	0.237000	0.24090	0.423000	0.31445	-0.245000	0.08890	-0.031000	0.13781	-0.136000	0.14681	GCC		0.726	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		10	125	0	0	0	1	0	10	125					T	45312324	C	T	45312324	3	4	5	1	0	0	0	0	1	0	0	0	11876	768	27	1	1235	1	PHF21B	22	45312324	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	4495437	45312324	5992242	78	606											
DMD	1756	broad.mit.edu	37	chrX	31525402	31525402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcttttcctacctaaTgttgagagactttttccgaa	5	11	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:31525402T>A	ENST00000357033.4	-	56	8592	c.8386A>T	c.(8386-8388)Att>Ttt	p.I2796F	DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.I336F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2796					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTAATGTTGAGAGAC	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8386-8388)Att>Ttt		dystrophin							153	128	136					X																	31525402		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525402T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8386A>T	X.37:g.31525402T>A	ENSP00000354923:p.Ile2796Phe					DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F	p.I2796F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			56	8592	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2796					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8386A>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.85|19.85	3.903073|3.903073	0.72754|0.72754	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.37304	.|U	.|0.002147	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.994;0.994;0.993;0.994;0.994;0.989;0.996;0.996;0.997;0.993;1.0	.|P;D;D;D;D;D;D;D;D;P;D	.|0.76575	.|0.791;0.917;0.912;0.917;0.917;0.949;0.978;0.978;0.917;0.865;0.988	T|T	0.72491|0.72491	-0.4277|-0.4277	5|10	.|0.54805	.|T	.|0.06	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2788;2796;2792;1455;1452;336;336;336;336;336;2673	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	L|F	524|2788;1455;1452;492;2792;2796;336;336;2796;2673;336;336;336	.|ENSP00000350765:I492F;ENSP00000367948:I2792F;ENSP00000354923:I2796F;ENSP00000352894:I336F;ENSP00000340057:I336F;ENSP00000367979:I336F;ENSP00000444119:I336F;ENSP00000417123:I336F	.|ENSP00000340057:I336F	H|I	-|-	2|1	0|0	DMD|DMD	31435323|31435323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.220000|5.220000	0.65267|0.65267	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	CAT|ATT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	282	0	0	0	1	0	17	282					A	31525402	T	A	31525402	3	1	5	1	0	0	0	0	1	0	0	0	4596	1464	51	5	2881	5	DMD	23	31525402	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08		31525402	123745158	79	607											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	656	0	0	0	1	0	8	656					G	37028425	A	G	37028425	3	3	5	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08	5503023	37028425	118242135	80	608											
KDM6A	7403	broad.mit.edu	37	chrX	44928823	44928823	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatttttctttctttttaGgggcttcacaaaggtcagag	8	7	4	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:44928823G>T	ENST00000377967.4	+	17	1964		c.e17-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCTTTTTAGGGGCTTCACA	0.378			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e17-1		lysine (K)-specific demethylase 6A							26	26	26					X																	44928823		2200	4295	6495	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44928823G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1924-1G>T	X.37:g.44928823G>T						KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	1964	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360767	0.61403	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44813767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.114000	0.94329	2.255000	0.74692	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	8	149	1	0	7.48243e-07	1	7.68649e-07	8	149					T	44928823	G	T	44928823	5	4	5	1	0	0	0	0	0	0	1	0	8167	1014	35	3	1989	3	KDM6A	23	44928823	Splice_Site	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	7900398	44928823	110341737	81	609											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	50						8	50	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	5	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-2J-AAB9-01A-11D-A40W-08	6310473	51239296	104031264	82	610											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	464						17	464	---	---	---	---	-	76907784	TCC	-	76907782	7	5	5	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-2J-AAB9-01A-11D-A40W-08	25668486	76907782	78362778	83	611											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		11	111						11	111	---	---	---	---	-	152087572	GAG	-	152087570	7	5	5	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-2J-AAB9-01A-11D-A40W-08	75179788	152087570	3182990	84	612											
L1CAM	3897	broad.mit.edu	37	chrX	153130847	153130847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaggagctatagggccGcaagccactgaggatgacac	15	9	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141	114	123					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	601	0	0	0	1	0	6	601					A	153130847	G	A	153130847	3	1	5	1	0	0	0	0	1	0	0	0	8619	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	1043277	153130847	2139713	85	613											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctcttccttgccgtINSggggggggccctgggcaaca					rs375310385		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	415						7	415	---	---	---	---	G	153688565	-	G	153688564	7	5	5	1	0	1	1	0	0	0	0	0	12163	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-2J-AAB9-01A-11D-A40W-08	557717	153688564	1581996	86	614											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920033	12920033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgagggatggttagtcaccaGattcacctctgtgttcctca	10	11	4	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:12920033G>A	ENST00000240189.2	+	3	860	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	258					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGTCACCAGATTCACCTCT	0.448																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(772-774)aGa>aAa		PRAME family member 2							103	103	103					1																	12920033		2201	4292	6493	SO:0001583	missense	65122							g.chr1:12920033G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.773G>A	1.37:g.12920033G>A	ENSP00000240189:p.Arg258Lys						p.R258K	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	860	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	258						Missense_Mutation	SNP	ENST00000240189.2	37	c.773G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	5.868	0.344240	0.11126	.	.	ENSG00000120952	ENST00000240189	T	0.00932	5.53	0.842	0.842	0.18927	.	0.844916	0.10527	N	0.664312	T	0.00328	0.0010	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42582	-0.9443	10	0.08599	T	0.76	.	3.0137	0.06052	0.6903:0.0:0.3097:0.0	.	258	O60811	PRAM2_HUMAN	K	258	ENSP00000240189:R258K	ENSP00000240189:R258K	R	+	2	0	PRAMEF2	12842620	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.187000	0.16998	-0.162000	0.10964	-1.220000	0.01600	AGA		0.448	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		6	404	0	0	0	1	0	6	404					A	12920033	G	A	12920033	3	1	6	1	0	0	0	0	1	0	0	0	12482	942	33	2	779	2	PRAMEF2	1	12920033	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		12920033	236330588	1	615											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	423	0	0	0	1	0	7	423					G	21806573	A	G	21806573	3	3	6	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	8886540	21806573	227444048	2	616											
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	8	8	2	2	rs201055589		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63	41	49					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	436	0	0	0	1	0	6	436					G	21806606	T	G	21806606	3	3	6	1	0	0	0	0	1	0	0	0	10239	1841	64	4	1309	4	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	33	21806606	227444015	3	617											
ARID1A	8289	broad.mit.edu	37	chr1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagatcagagggccaaccacGaaggctcgtggccttcccat	11	14	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:27101342G>T	ENST00000324856.7	+	18	4995	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1542					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1542*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.E1542*(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4624-4626)Gaa>Taa		AT rich interactive domain 1A (SWI-like)							60	63	62					1																	27101342		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101342G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4624G>T	1.37:g.27101342G>T	ENSP00000320485:p.Glu1542*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	p.E1542*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4995	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1542					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4624G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.343878|10.343878	0.99388|0.99388	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.045702|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75287	.|0.3829	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72743	.|-0.4201	.|4	0.42905|.	T|.	0.14|.	-7.5866|-7.5866	19.3941|19.3941	0.94598|0.94598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1542;1159|438	.|.	ENSP00000320485:E1542X|.	E|R	+|+	1|2	0|0	ARID1A|ARID1A	26973929|26973929	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.479000|0.479000	0.33129|0.33129	9.144000|9.144000	0.94629|0.94629	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	GAA|CGA		0.642	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		41	170	1	0	8.16277e-20	1	8.79555e-20	41	170					T	27101342	G	T	27101342	4	4	6	1	0	0	0	0	0	1	0	0	913	1059	37	3	4694	3	ARID1A	1	27101342	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	5294736	27101342	222149279	4	618											
MFSD2A	84879	broad.mit.edu	37	chr1	40421012	40421012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgcggcggggctgctAcccaccagcatcctccaaag	12	17	0	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:40421012A>G	ENST00000372809.5	+	1	191	c.48A>G	c.(46-48)ctA>ctG	p.L16L	MFSD2A_ENST00000372811.5_Silent_p.L16L|MFSD2A_ENST00000420632.2_5'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	16					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGGGCTGCTACCCACCAGCA	0.716																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(46-48)ctA>ctG		major facilitator superfamily domain containing 2A							12	17	15					1																	40421012		2191	4284	6475	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40421012A>G	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.48A>G	1.37:g.40421012A>G						MFSD2A_ENST00000372811.5_Silent_p.L16L|MFSD2A_ENST00000420632.2_5'UTR	p.L16L	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			1	191	+			16					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.48A>G	CCDS44118.1																																																																																				0.716	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		4	57	0	0	0	1	0	4	57					G	40421012	A	G	40421012	2	3	6	1	0	0	0	0	0	0	0	1	9571	378	14	4		4	MFSD2A	1	40421012	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	13319670	40421012	208829609	5	619											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1446						7	1446	---	---	---	---	-	44489938	T	-	44489938	7	5	6	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-2J-AABA-01A-21D-A40W-08	4068926	44489938	204760683	6	620											
PSMB4	5692	broad.mit.edu	37	chr1	151372561	151372561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccttggctcgtttccGcaacatctctcgcattatgc	8	15	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:151372561G>A	ENST00000290541.6	+	2	299	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GCTCGTTTCCGCAACATCTCT	0.562																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(244-246)cGc>cAc		proteasome (prosome, macropain) subunit, beta type, 4							146	148	148					1																	151372561		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372561G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.245G>A	1.37:g.151372561G>A	ENSP00000290541:p.Arg82His						p.R82H	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	299	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		82					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.245G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616730	0.96649	.	.	ENSG00000159377	ENST00000290541	T	0.23950	1.88	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.23226	-1.0194	10	0.48119	T	0.1	-10.0508	17.6208	0.88080	0.0:0.0:1.0:0.0	.	82;82	B4DFL3;P28070	.;PSB4_HUMAN	H	82	ENSP00000290541:R82H	ENSP00000290541:R82H	R	+	2	0	PSMB4	149639185	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.502000	0.84385	0.561000	0.74099	CGC		0.562	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		6	800	0	0	0	1	0	6	800					A	151372561	G	A	151372561	3	1	6	1	0	0	0	0	1	0	0	0	12726	1087	38	1	251	1	PSMB4	1	151372561	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	106882623	151372561	97878060	7	621											
KIAA0907	22889	broad.mit.edu	37	chr1	155887387	155887387	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagtgggggctggggcTggggctggggctgggggcca	26	6	0	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:155887387T>G	ENST00000368321.3	-	11	1366	c.1343A>C	c.(1342-1344)cAg>cCg	p.Q448P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q448P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.577																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1342-1344)cAg>cCg		KIAA0907							21	26	24					1																	155887387		2157	4280	6437	SO:0001583	missense	22889							g.chr1:155887387T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1343A>C	1.37:g.155887387T>G	ENSP00000357304:p.Gln448Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q448P	p.Q448P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1368	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		448			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1343A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059571	0.55325	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.26373	1.74;1.74	5.38	-0.0592	0.13794	.	0.293405	0.37906	N	0.001888	T	0.05090	0.0136	N	0.08118	0	0.33304	D	0.565248	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	10	0.40728	T	0.16	-0.087	14.4393	0.67303	0.0:0.0:0.4509:0.5491	.	448;448	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	448	ENSP00000357304:Q448P;ENSP00000357303:Q448P	ENSP00000357303:Q448P	Q	-	2	0	KIAA0907	154154011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.158000	0.19367	0.533000	0.62120	CAG		0.577	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		7	153	0	0	0	1	0	7	153					G	155887387	T	G	155887387	3	3	6	1	0	0	0	0	1	0	0	0	8229	1580	55	4	517	4	KIAA0907	1	155887387	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	4514826	155887387	93363234	8	622											
PIGM	93183	broad.mit.edu	37	chr1	160000872	160000872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccgattacacagcctttTcaggagctcgtacaaacaag	8	12	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:160000872T>C	ENST00000368090.2	-	1	911	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	220					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGCCTTTTCAGGAGCTCG	0.493																																						ENST00000368090.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17						c.(658-660)Aaa>Gaa		phosphatidylinositol glycan anchor biosynthesis, class M							93	98	96					1																	160000872		2203	4300	6503	SO:0001583	missense	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160000872T>C	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.658A>G	1.37:g.160000872T>C	ENSP00000357069:p.Lys220Glu						p.K220E	NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	911	-	all_hematologic(112;0.093)		220						Missense_Mutation	SNP	ENST00000368090.2	37	c.658A>G	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	T	0.284	-0.984168	0.02180	.	.	ENSG00000143315	ENST00000368090	T	0.42513	0.97	5.01	-0.346	0.12620	.	1.434850	0.03898	N	0.279844	T	0.13157	0.0319	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15009	-1.0452	9	.	.	.	-16.8801	5.5481	0.17076	0.0:0.1892:0.4536:0.3572	.	220	Q9H3S5	PIGM_HUMAN	E	220	ENSP00000357069:K220E	.	K	-	1	0	PIGM	158267496	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.053000	0.11846	0.035000	0.15519	0.379000	0.24179	AAA		0.493	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		5	552	0	0	0	1	0	5	552					C	160000872	T	C	160000872	3	2	6	1	0	0	0	0	1	0	0	0	11934	1792	62	4	617	4	PIGM	1	160000872	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	4113485	160000872	89249749	9	623											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	589						7	589	---	---	---	---	-	183616828	TTC	-	183616826	7	5	6	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-2J-AABA-01A-21D-A40W-08	23615954	183616826	65633795	10	624											
KIF21B	23046	broad.mit.edu	37	chr1	200950209	200950209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccttggctcctccaacCggggagatgatgccccttcc	10	17	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:200950209C>T	ENST00000422435.2	-	29	4174	c.3858G>A	c.(3856-3858)ccG>ccA	p.P1286P	KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000332129.2_Silent_p.P1273P|KIF21B_ENST00000461742.2_Silent_p.P1286P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1286					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCAACCGGGGAGATGA	0.637																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3817-3819)ccG>ccA		kinesin family member 21B							70	61	64					1																	200950209		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200950209C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3858G>A	1.37:g.200950209C>T						KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000422435.2_Silent_p.P1286P|KIF21B_ENST00000461742.2_Silent_p.P1286P	p.P1273P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			28	4135	-			1286					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3819G>A	CCDS58056.1																																																																																				0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		32	194	0	0	0	1	0	32	194					T	200950209	C	T	200950209	2	4	6	1	0	0	0	0	0	0	0	1	8319	639	23	1		1	KIF21B	1	200950209	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	17333383	200950209	48300412	11	625											
EPHX1	2052	broad.mit.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-													tccacttcatccacgtgaagCccccccagctgcccgcaggc							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)cccfs	p.P133fs	EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(394-396)ccfs		epoxide hydrolase 1, microsomal (xenobiotic)							79	90	87					1																	226026384		2203	4300	6503	SO:0001589	frameshift_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026384delC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.394delC	1.37:g.226026384delC	ENSP00000355802:p.Pro133fs					EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	590	+	Breast(184;0.197)		133					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Del	DEL	ENST00000366837.4	37	c.394delC	CCDS1547.1																																																																																				0.627	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		7	926						7	926	---	---	---	---	-	226026384	C	-	226026384	7	5	6	1	0	1	0	1	0	0	0	0	5197	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-2J-AABA-01A-21D-A40W-08	25076175	226026384	23224237	12	626											
OR2L8	391190	broad.mit.edu	37	chr1	248112663	248112663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactccatattccttattgCcgatccagggccatcaatca	6	13	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:248112663C>T	ENST00000357191.3	+	1	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCCTTATTGCCGATCCAGGG	0.473																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(502-504)tgC>tgT		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							224	146	173					1																	248112663		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112663C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.504C>T	1.37:g.248112663C>T						OR2L13_ENST00000366478.2_Intron	p.C168C	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	504	+	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)		168					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.504C>T	CCDS31101.1																																																																																				0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	456	0	0	0	1	0	5	456					T	248112663	C	T	248112663	2	4	6	1	0	0	0	0	0	0	0	1	11051	747	26	2		2	OR2L8	1	248112663	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	22086279	248112663	1137958	13	627											
KIDINS220	57498	broad.mit.edu	37	chr2	8891668	8891668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttttacatctcgagccaCaagaactggggtccttgaag	10	10	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:8891668C>A	ENST00000256707.3	-	23	3299	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1040					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCCACAAGAACTGGG	0.353																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3118-3120)Gtg>Ttg		kinase D-interacting substrate, 220kDa							102	103	103					2																	8891668		1818	4062	5880	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8891668C>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3118G>T	2.37:g.8891668C>A	ENSP00000256707:p.Val1040Leu					KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L	p.V1040L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			23	3299	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1040					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3118G>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	5.843	0.339815	0.11069	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.64803	1.03;-0.12;-0.08;-0.02;-0.08;-0.06	5.07	5.07	0.68467	.	0.215268	0.42821	D	0.000645	T	0.41880	0.1178	N	0.12887	0.27	0.39550	D	0.968969	B;B;B;B;B	0.29552	0.012;0.001;0.058;0.165;0.248	B;B;B;B;B	0.34931	0.01;0.003;0.094;0.192;0.064	T	0.36648	-0.9739	10	0.06494	T	0.89	.	12.2106	0.54377	0.0:0.9213:0.0:0.0787	.	1041;1041;724;998;1040	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	L	787;724;1040;1040;998;1040;1041;49	ENSP00000420364:V787L;ENSP00000256707:V1040L;ENSP00000411849:V1040L;ENSP00000414923:V998L;ENSP00000418974:V1040L;ENSP00000419964:V1041L	ENSP00000256707:V1040L	V	-	1	0	KIDINS220	8809119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.970000	0.40520	2.509000	0.84616	0.563000	0.77884	GTG		0.353	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		53	286	1	0	2.48909e-17	1	2.66141e-17	53	286					A	8891668	C	A	8891668	3	1	6	1	0	0	0	0	1	0	0	0	8301	478	17	3	2229	3	KIDINS220	2	8891668	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		8891668	234307705	14	628											
APOB	338	broad.mit.edu	37	chr2	21225066	21225069	+	Frame_Shift_Del	DEL	GACT	GACT	-													aactaacaggttcttgatcaGactgactatcttttcttcaa							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:21225066_21225069delGACT	ENST00000233242.1	-	29	13352_13355	c.13225_13228delAGTC	c.(13225-13230)agtctgfs	p.SL4409fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4409					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)			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)					TTCTTGATCAGACTGACTATCTTT	0.373																																						ENST00000233242.1																			0				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						c.(13225-13230)tgfs		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225066_21225069delGACT	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.13225_13228delAGTC	2.37:g.21225070_21225073delGACT	ENSP00000233242:p.Ser4409fs						p.SL4409fs	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	13352_13355	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4409					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.13225_13228delAGTC	CCDS1703.1																																																																																				0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			40	269						40	269	---	---	---	---	-	21225069	GACT	-	21225066	7	5	6	1	0	1	0	1	0	0	0	0	785	933	33	0	467	0	APOB	2	21225066	Frame_Shift_Del	DEL	GACT	TCGA-2J-AABA-01A-21D-A40W-08	12333398	21225066	221974307	15	629											
DNMT3A	1788	broad.mit.edu	37	chr2	25459873	25459873	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacagtggatgccaacgGcctaggaggcagaagagaga	14	8	1	3	rs35824014		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2410C>T	c.(2410-2412)Ccg>Tcg	p.P804S	DNMT3A_ENST00000321117.5_Splice_Site_p.P804S|DNMT3A_ENST00000380746.4_Splice_Site_p.P615S|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.P581S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		7	Substitution - Missense(4)|Deletion - Frameshift(3)	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)	lung(4)|haematopoietic_and_lymphoid_tissue(3)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e21-1		DNA (cytosine-5-)-methyltransferase 3 alpha							47	44	45					2																	25459873		2203	4300	6503	SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25459873G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2409-1C>T	2.37:g.25459873G>A						DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice	p.P804_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			21	2747	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		804					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	ENST00000264709.3	37	c.2408_splice	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511478	0.85389	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.62	4.72	0.59763	.	0.047584	0.85682	D	0.000000	D	0.98391	0.9465	M	0.86651	2.83	0.80722	D	1	P;D	0.89917	0.729;1.0	B;D	0.75020	0.274;0.985	D	0.98630	1.0671	10	0.49607	T	0.09	-7.2591	14.0893	0.64980	0.0:0.1518:0.8482:0.0	.	804;615	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	615;804;804;581	ENSP00000370122:P615S;ENSP00000324375:P804S;ENSP00000264709:P804S;ENSP00000384237:P581S	ENSP00000264709:P804S	P	-	1	0	DNMT3A	25313377	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.624000	0.98398	1.325000	0.45301	0.655000	0.94253	CCG		0.582	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Missense_Mutation	19	94	0	0	0	1	0	19	94					A	25459873	G	A	25459873	5	1	6	1	0	0	0	0	0	0	1	0	4692	1217	42	2	340	2	DNMT3A	2	25459873	Splice_Site	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4234807	25459873	217739500	16	630											
SLC8A1	6546	broad.mit.edu	37	chr2	40405540	40405540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccccacctttcttctcactCatctccaccaggcggggctc	6	20	4	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:40405540C>A	ENST00000403092.1	-	3	1935	c.1902G>T	c.(1900-1902)atG>atT	p.M634I	SLC8A1_ENST00000332839.4_Missense_Mutation_p.M634I|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M634I|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	634					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTTCTCACTCATCTCCACCA	0.507																																						ENST00000542756.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1900-1902)atG>atT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						156	162	160					2																	40405540		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40405540C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1902G>T	2.37:g.40405540C>A	ENSP00000384763:p.Met634Ile					SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron	p.M634I			P32418	NAC1_HUMAN			3	1925	-			634					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1902G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	9.553	1.116372	0.20795	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.25749	1.78;1.79;1.78;1.79	5.39	5.39	0.77823	.	0.176546	0.50627	D	0.000106	T	0.24661	0.0598	L	0.40543	1.245	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.17979	0.02;0.007	T	0.02257	-1.1187	10	0.34782	T	0.22	.	16.6407	0.85098	0.0:1.0:0.0:0.0	.	634;634	F6VPY9;P32418	.;NAC1_HUMAN	I	634	ENSP00000440727:M634I;ENSP00000384763:M634I;ENSP00000385678:M634I;ENSP00000332931:M634I	ENSP00000332931:M634I	M	-	3	0	SLC8A1	40259044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	2.506000	0.84524	0.591000	0.81541	ATG		0.507	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		13	660	1	0	1.36491e-13	1	1.44826e-13	13	660					A	40405540	C	A	40405540	3	1	6	1	0	0	0	0	1	0	0	0	14756	826	29	3	1163	3	SLC8A1	2	40405540	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	14945667	40405540	202793833	17	631											
SLC3A1	6519	broad.mit.edu	37	chr2	44531289	44531289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactcttataggttcatgGggactgaagcctatgcagag	11	8	3	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:44531289G>A	ENST00000260649.6	+	7	1220	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	SLC3A1_ENST00000409380.1_Missense_Mutation_p.G104R|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G13R|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409294.1_Missense_Mutation_p.G2R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G382R|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G382R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	382					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TAGGTTCATGGGGACTGAAGC	0.458																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1144-1146)Ggg>Agg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						153	137	143					2																	44531289		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44531289G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1144G>A	2.37:g.44531289G>A	ENSP00000260649:p.Gly382Arg					SLC3A1_ENST00000409294.1_Missense_Mutation_p.G2R|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G13R|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409380.1_Missense_Mutation_p.G104R|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G382R	p.G382R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			7	1220	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	382					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1144G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213359	0.79352	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000409294;ENST00000409740	D;D;D;D;D;D;D	0.99474	-5.97;-5.97;-5.97;-5.97;-5.97;-4.58;-5.97	5.14	5.14	0.70334	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054269	0.64402	D	0.000001	D	0.99336	0.9767	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.996;0.991;0.999;0.999	D;D;D;D	0.77004	0.959;0.959;0.989;0.98	D	0.99346	1.0913	10	0.66056	D	0.02	-16.9982	17.398	0.87451	0.0:0.0:1.0:0.0	.	382;382;382;382	Q07837;B8ZZK1;Q4J6B5;Q4J6B6	SLC31_HUMAN;.;.;.	R	382;382;318;382;382;382;104;2;13	ENSP00000260649:G382R;ENSP00000387308:G382R;ENSP00000386954:G382R;ENSP00000386620:G382R;ENSP00000386709:G104R;ENSP00000386852:G2R;ENSP00000386677:G13R	ENSP00000260649:G382R	G	+	1	0	SLC3A1	44384793	1.000000	0.71417	0.997000	0.53966	0.595000	0.36748	8.753000	0.91637	2.393000	0.81446	0.455000	0.32223	GGG		0.458	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		12	455	0	0	0	1	0	12	455					A	44531289	G	A	44531289	3	1	6	1	0	0	0	0	1	0	0	0	14676	1232	43	2	1170	2	SLC3A1	2	44531289	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4125749	44531289	198668084	18	632											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del	p.GH291del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			8	345						8	345	---	---	---	---	-	63283261	CCA	-	63283259	7	5	6	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-2J-AABA-01A-21D-A40W-08	18751970	63283259	179916114	19	633											
MOGS	7841	broad.mit.edu	37	chr2	74688883	74688883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagttgaggttggggcCgacccaccacccgaacgagc	13	14	0	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:74688883C>T	ENST00000233616.4	-	4	2195	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	MOGS_ENST00000452063.2_Missense_Mutation_p.R572Q|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	678					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGTTGGGGCCGACCCACCAC	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2032-2034)cGg>cAg		mannosyl-oligosaccharide glucosidase							65	77	73					2																	74688883		1993	4155	6148	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688883C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2033G>A	2.37:g.74688883C>T	ENSP00000233616:p.Arg678Gln					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R572Q	p.R678Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2195	-			678					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2033G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526345	0.13066	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.38240	1.15;1.15	5.01	5.01	0.66863	Six-hairpin glycosidase-like (1);	0.118143	0.52532	D	0.000072	T	0.39937	0.1097	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.09250	-1.0683	10	0.12430	T	0.62	-11.998	9.2712	0.37673	0.0:0.9044:0.0:0.0956	.	678	Q13724	MOGS_HUMAN	Q	678;572	ENSP00000233616:R678Q;ENSP00000388201:R572Q	ENSP00000233616:R678Q	R	-	2	0	MOGS	74542391	0.992000	0.36948	0.983000	0.44433	0.156000	0.22039	1.923000	0.40055	2.618000	0.88619	0.462000	0.41574	CGG		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		53	312	0	0	0	1	0	53	312					T	74688883	C	T	74688883	3	4	6	1	0	0	0	0	1	0	0	0	9738	652	23	1	484	1	MOGS	2	74688883	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	11405624	74688883	168510490	20	634											
NCAPH	23397	broad.mit.edu	37	chr2	97019996	97019996	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgaagttgacgagagtGactgtggagacttccccgat	13	8	0	5			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:97019996G>T	ENST00000240423.4	+	9	1121	c.1078G>T	c.(1078-1080)Gac>Tac	p.D360Y	NCAPH_ENST00000455200.1_Missense_Mutation_p.D349Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D224Y	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	360					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGACGAGAGTGACTGTGGAGA	0.512																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1045-1047)Gac>Tac		non-SMC condensin I complex, subunit H							174	172	173					2																	97019996		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97019996G>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1078G>T	2.37:g.97019996G>T	ENSP00000240423:p.Asp360Tyr					NCAPH_ENST00000427946.1_Missense_Mutation_p.D224Y|NCAPH_ENST00000240423.4_Missense_Mutation_p.D360Y	p.D349Y			Q15003	CND2_HUMAN			9	1340	+		Ovarian(717;0.0221)	360					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1045G>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384455	0.25031	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.53857	0.67;0.68;0.6;0.67	5.38	4.48	0.54585	.	0.274240	0.42053	N	0.000768	T	0.51346	0.1669	M	0.78049	2.395	0.21064	N	0.999798	B;B;P;B	0.38148	0.19;0.19;0.62;0.19	B;B;B;B	0.39617	0.172;0.172;0.305;0.172	T	0.49588	-0.8924	10	0.06625	T	0.88	-9.4799	12.9558	0.58427	0.0:0.0:0.8368:0.1632	.	336;349;349;360	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Y	360;224;349;349	ENSP00000240423:D360Y;ENSP00000400774:D224Y;ENSP00000405237:D349Y;ENSP00000407308:D349Y	ENSP00000240423:D360Y	D	+	1	0	NCAPH	96383723	1.000000	0.71417	0.003000	0.11579	0.320000	0.28249	5.587000	0.67510	1.215000	0.43411	0.561000	0.74099	GAC		0.512	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		91	582	1	0	1.56974e-57	1	1.70464e-57	91	582					T	97019996	G	T	97019996	3	4	6	1	0	0	0	0	1	0	0	0	10251	1290	45	3	1112	3	NCAPH	2	97019996	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	22331113	97019996	146179377	21	635											
TMEM37	6344	broad.mit.edu	37	chr2	120194962	120194962	+	IGR	DEL	C	C	-													actgcctccttcctcctcttCctgaacgccatcagcggcct							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:120194962delC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Frame_Shift_Del_p.F185fs|TMEM37_ENST00000306406.4_Frame_Shift_Del_p.F173fs	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TCCTCCTCTTCCTGAACGCCA	0.537																																						ENST00000306406.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(517-519)ttfs		transmembrane protein 37							170	180	176					2																	120194962		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194962delC		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194962delC						TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Frame_Shift_Del_p.F185fs	p.F173fs	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN			2	554	+			173					Q12961|Q13213|Q53T00	Frame_Shift_Del	DEL	ENST00000019103.5	37	c.519delC	CCDS2127.1																																																																																				0.537	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			206	1005						206	1005	---	---	---	---	-	120194962	C	-	120194962	6	5	6	0	1	1	0	1	0	0	0	0	16210	854	30	0		0	TMEM37	2	120194962	IGR	DEL	C	TCGA-2J-AABA-01A-21D-A40W-08	23174966	120194962	123004411	22	636											
NCKAP5	344148	broad.mit.edu	37	chr2	133541374	133541374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatagggtgagtgaagaTaggctttttgaaggccacag	16	5	0	4			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:133541374T>C	ENST00000409261.1	-	14	3383	c.3010A>G	c.(3010-3012)Atc>Gtc	p.I1004V	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1004V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1004										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAGTGAAGATAGGCTTTTTG	0.537																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3010-3012)Atc>Gtc		NCK-associated protein 5							33	37	36					2																	133541374		1950	4139	6089	SO:0001583	missense	344148						protein binding	g.chr2:133541374T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3010A>G	2.37:g.133541374T>C	ENSP00000387128:p.Ile1004Val					NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1004V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.I1004V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3383	-			1004					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3010A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.544604	0.00934	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.08458	3.09;3.09	5.07	-8.15	0.01065	.	1.865620	0.03556	N	0.226266	T	0.04092	0.0114	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34304	-0.9834	10	0.22706	T	0.39	.	7.2862	0.26340	0.0:0.3572:0.1999:0.4429	.	1004	O14513	NCKP5_HUMAN	V	1004	ENSP00000387128:I1004V;ENSP00000380603:I1004V	ENSP00000380603:I1004V	I	-	1	0	NCKAP5	133257844	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-2.258000	0.01179	-2.146000	0.00800	-0.798000	0.03219	ATC		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		20	110	0	0	0	1	0	20	110					C	133541374	T	C	133541374	3	2	6	1	0	0	0	0	1	0	0	0	10265	1406	49	4	2747	4	NCKAP5	2	133541374	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	13346412	133541374	109657999	23	637											
TTN	7273	broad.mit.edu	37	chr2	179431867	179431867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaacagtccaggcaagtCgactggtttctcgcttttca	8	12	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:179431867C>T	ENST00000591111.1	-	276	74293	c.74069G>A	c.(74068-74070)cGa>cAa	p.R24690Q	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17391Q|TTN_ENST00000460472.2_Missense_Mutation_p.R17266Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26331Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23763Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17458Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24690	Fibronectin type-III 79. {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)			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)			CCAGGCAAGTCGACTGGTTTC	0.413																																						ENST00000589042.1																			0				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						c.(78991-78993)cGa>cAa		titin							106	107	106					2																	179431867		1893	4112	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431867C>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.74069G>A	2.37:g.179431867C>T	ENSP00000465570:p.Arg24690Gln					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23763Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17391Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17266Q|TTN_ENST00000342175.6_Missense_Mutation_p.R17458Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24690Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R26331Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79216	-			24690			Ig-like 127.		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.78992G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.045692	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.52	5.52	0.82312	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74344	0.3704	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.76844	-0.2809	9	0.87932	D	0	.	19.4392	0.94811	0.0:1.0:0.0:0.0	.	17266;17391;17458;24690	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	23763;17266;17458;17391;17264	ENSP00000343764:R23763Q;ENSP00000434586:R17266Q;ENSP00000340554:R17458Q;ENSP00000352154:R17391Q	ENSP00000340554:R17458Q	R	-	2	0	TTN	179140113	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.770000	0.85390	2.580000	0.87095	0.462000	0.41574	CGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		95	393	0	0	0	1	0	95	393					T	179431867	C	T	179431867	3	4	6	1	0	0	0	0	1	0	0	0	16789	884	31	1	29135	1	TTN	2	179431867	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	45890493	179431867	63767506	24	638											
GTF3C3	9330	broad.mit.edu	37	chr2	197636516	197636516	+	Frame_Shift_Del	DEL	T	T	-													atacaaatgcattgtgtccaTttaagacacatagggcatga							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:197636516delT	ENST00000263956.3	-	15	2305	c.2216delA	c.(2215-2217)aatfs	p.N739fs		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	739					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTGTGTCCATTTAAGACACA	0.428																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2215-2217)atfs		general transcription factor IIIC, polypeptide 3, 102kDa							153	135	141					2																	197636516		2203	4300	6503	SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197636516delT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2216delA	2.37:g.197636516delT	ENSP00000263956:p.Asn739fs						p.N739fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			15	2305	-			739					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Del	DEL	ENST00000263956.3	37	c.2216delA	CCDS2316.1																																																																																				0.428	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			52	225						52	225	---	---	---	---	-	197636516	T	-	197636516	7	5	6	1	0	1	0	1	0	0	0	0	6904	1493	52	0	460	0	GTF3C3	2	197636516	Frame_Shift_Del	DEL	T	TCGA-2J-AABA-01A-21D-A40W-08	18204649	197636516	45562857	25	639											
ACSL3	2181	broad.mit.edu	37	chr2	223782842	223782842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgaccaacatcattaCtagtaaagaactcttacaaa	6	8	2	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:223782842C>A	ENST00000357430.3	+	6	1166	c.635C>A	c.(634-636)aCt>aAt	p.T212N	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T212N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	212					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AACATCATTACTAGTAAAGAA	0.373			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(634-636)aCt>aAt		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						136	135	135					2																	223782842		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782842C>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.635C>A	2.37:g.223782842C>A	ENSP00000350012:p.Thr212Asn					AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T212N	p.T212N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1166	+		Renal(207;0.0183)	212					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.635C>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004705	0.93287	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.56444	2.53;2.53;0.46	5.74	5.74	0.90152	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86740	0.1954	10	0.72032	D	0.01	-25.5636	19.926	0.97102	0.0:1.0:0.0:0.0	.	212	O95573	ACSL3_HUMAN	N	212;212;60	ENSP00000350012:T212N;ENSP00000375918:T212N;ENSP00000441643:T60N	ENSP00000350012:T212N	T	+	2	0	ACSL3	223491086	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.484000	0.81180	2.707000	0.92482	0.655000	0.94253	ACT		0.373	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		5	528	1	0	0.000602214	1	0.000606578	5	528					A	223782842	C	A	223782842	3	1	6	1	0	0	0	0	1	0	0	0	178	565	20	3	645	3	ACSL3	2	223782842	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	26146326	223782842	19416531	26	640											
ZNF35	7584	broad.mit.edu	37	chr3	44700479	44700479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatagccttaattctggCgctgttaaaaatccaaaaac	5	8	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:44700479C>T	ENST00000396056.2	+	4	859	c.624C>T	c.(622-624)ggC>ggT	p.G208G	ZNF35_ENST00000542250.1_Silent_p.G48G|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	208	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G208G(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TTAATTCTGGCGCTGTTAAAA	0.413																																						ENST00000396056.2																			1	Substitution - coding silent(1)	p.G208G(1)	lung(1)	large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(622-624)ggC>ggT		zinc finger protein 35							74	77	76					3																	44700479		2203	4300	6503	SO:0001819	synonymous_variant	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700479C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.624C>T	3.37:g.44700479C>T						ZNF35_ENST00000542250.1_Silent_p.G48G|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	p.G208G	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	859	+		Ovarian(412;0.0228)	208			Globular domain.		B2RBU6|Q53Y54|Q96D01	Silent	SNP	ENST00000396056.2	37	c.624C>T	CCDS2718.2																																																																																				0.413	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		7	652	0	0	0	1	0	7	652					T	44700479	C	T	44700479	2	4	6	1	0	0	0	0	0	0	0	1	17915	755	27	1		1	ZNF35	3	44700479	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		44700479	153321951	27	641											
MYL3	4634	broad.mit.edu	37	chr3	46902285	46902285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcacacttgggtgtgCggtcgaacagcatgaaggct	12	10	2	1	rs139354105		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:46902285C>T	ENST00000395869.1	-	3	239	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MYL3_ENST00000292327.4_Missense_Mutation_p.R63H			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	63	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTTGGGTGTGCGGTCGAACAG	0.622																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(187-189)cGc>cAc		myosin, light chain 3, alkali; ventricular, skeletal, slow		C	HIS/ARG	0,4406		0,0,2203	119	117	118		188	4.4	1	3	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL3	NM_000258.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	63/196	46902285	1,13005	2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46902285C>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.188G>A	3.37:g.46902285C>T	ENSP00000379210:p.Arg63His					MYL3_ENST00000292327.4_Missense_Mutation_p.R63H	p.R63H			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	3	239	-			63			EF-hand 1.		B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.188G>A	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108683	0.94292	0.0	1.16E-4	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.85861	-2.04;-2.04	4.36	4.36	0.52297	EF-hand-like domain (1);	0.000000	0.64402	D	0.000002	D	0.91341	0.7269	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	P	0.60541	0.876	D	0.92718	0.6189	10	0.87932	D	0	-17.4592	14.7939	0.69863	0.0:1.0:0.0:0.0	.	63	P08590	MYL3_HUMAN	H	63	ENSP00000379210:R63H;ENSP00000292327:R63H	ENSP00000292327:R63H	R	-	2	0	MYL3	46877289	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.879000	0.69690	2.415000	0.81967	0.563000	0.77884	CGC		0.622	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		5	553	0	0	0	1	0	5	553					T	46902285	C	T	46902285	3	4	6	1	0	0	0	0	1	0	0	0	10089	768	27	1	415	1	MYL3	3	46902285	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	2201806	46902285	151120145	28	642											
IQCF2	389123	broad.mit.edu	37	chr3	51897313	51897313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccacaactgccagacctGcgctctcctccagggccact	8	18	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:51897313G>A	ENST00000333127.3	+	3	451	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	141										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCAGACCTGCGCTCTCCTC	0.567																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(421-423)tGc>tAc		IQ motif containing F2							113	107	109					3																	51897313		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897313G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.422G>A	3.37:g.51897313G>A	ENSP00000329904:p.Cys141Tyr					IQCF2_ENST00000429548.1_3'UTR	p.C141Y	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	451	+			141						Missense_Mutation	SNP	ENST00000333127.3	37	c.422G>A	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250045	0.59212	.	.	ENSG00000184345	ENST00000333127	T	0.30448	1.53	5.22	5.22	0.72569	.	0.101398	0.44902	D	0.000401	T	0.44138	0.1279	L	0.36672	1.1	0.18873	N	0.999981	D	0.89917	1.0	D	0.68765	0.96	T	0.24119	-1.0169	10	0.54805	T	0.06	-19.2161	14.4799	0.67573	0.0:0.0:1.0:0.0	.	141	Q8IXL9	IQCF2_HUMAN	Y	141	ENSP00000329904:C141Y	ENSP00000329904:C141Y	C	+	2	0	IQCF2	51872353	0.948000	0.32251	0.293000	0.24932	0.943000	0.58893	2.580000	0.46068	2.866000	0.98385	0.650000	0.86243	TGC		0.567	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		61	426	0	0	0	1	0	61	426					A	51897313	G	A	51897313	3	1	6	1	0	0	0	0	1	0	0	0	7838	1319	46	2	432	2	IQCF2	3	51897313	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4995028	51897313	146125117	29	643											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	503						7	503	---	---	---	---	-	53529195	GAT	-	53529193	7	5	6	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-2J-AABA-01A-21D-A40W-08	1631880	53529193	144493237	30	644											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		5	303	0	0	0	1	0	5	303					T	65425585	C	T	65425585	2	4	6	1	0	0	0	0	0	0	0	1	9231	796	28	2		2	MAGI1	3	65425585	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	11896392	65425585	132596845	31	645											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	1219						11	1219	---	---	---	---	-	66436627	GCT	-	66436625	7	5	6	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-2J-AABA-01A-21D-A40W-08	1011040	66436625	131585805	32	646											
ZBED2	79413	broad.mit.edu	37	chr3	111312977	111312977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcactaatctcttcctcCtccttcatctctaagtcccc	2	18	4	0	rs145211272		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:111312977C>T	ENST00000317012.4	-	2	1080	c.72G>A	c.(70-72)gaG>gaA	p.E24E	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	24							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						TCTCTTCCTCCTCCTTCATCT	0.507																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(70-72)gaG>gaA		zinc finger, BED-type containing 2		C	,,	0,4406		0,0,2203	269	222	238		,72,	0.7	1	3	dbSNP_134	238	3,8597	2.2+/-6.3	0,3,4297	no	intron,coding-synonymous,intron	CD96,ZBED2	NM_005816.4,NM_024508.4,NM_198196.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	,24/219,	111312977	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79413						DNA binding|metal ion binding	g.chr3:111312977C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.72G>A	3.37:g.111312977C>T						CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	p.E24E	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1080	-			24					D3DN62	Silent	SNP	ENST00000317012.4	37	c.72G>A	CCDS2960.2																																																																																				0.507	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		9	295	0	0	0	1	0	9	295					T	111312977	C	T	111312977	2	4	6	1	0	0	0	0	0	0	0	1	17572	680	24	2		2	ZBED2	3	111312977	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	44876352	111312977	86709453	33	647											
KLHL24	54800	broad.mit.edu	37	chr3	183368717	183368717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatgcaaaaattttgcGttacagacttttgaggatgt	8	5	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:183368717G>A	ENST00000454652.2	+	4	959	c.573G>A	c.(571-573)gcG>gcA	p.A191A	KLHL24_ENST00000242810.6_Silent_p.A191A|KLHL24_ENST00000476808.1_Silent_p.A191A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	191	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAATTTTGCGTTACAGACTT	0.368																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(571-573)gcG>gcA		kelch-like family member 24							100	102	101					3																	183368717		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368717G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.573G>A	3.37:g.183368717G>A						KLHL24_ENST00000476808.1_Silent_p.A191A|KLHL24_ENST00000242810.6_Silent_p.A191A	p.A191A			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	959	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		191			BACK.		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.573G>A	CCDS3246.1																																																																																				0.368	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		8	390	0	0	0	1	0	8	390					A	183368717	G	A	183368717	2	1	6	1	0	0	0	0	0	0	0	1	8409	1132	40	1		1	KLHL24	3	183368717	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	72055740	183368717	14653713	34	648											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107417	6107417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcgcctcctcgcgcGcctcggtcagcagcgccgtc	12	21	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:6107417G>A	ENST00000282924.5	-	3	892	c.407C>T	c.(406-408)gCg>gTg	p.A136V	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A136V|JAKMIP1_ENST00000457227.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	136	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCTCGCGCGCCTCGGTCAG	0.706																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(406-408)gCg>gTg		janus kinase and microtubule interacting protein 1							15	14	14					4																	6107417		2197	4288	6485	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107417G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.407C>T	4.37:g.6107417G>A	ENSP00000282924:p.Ala136Val					JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A136V	p.A136V	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	856	-			136			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.407C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438645	0.62955	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.06687	3.27;3.27;3.27	4.6	3.74	0.42951	.	0.081594	0.51477	D	0.000100	T	0.09598	0.0236	L	0.54323	1.7	0.80722	D	1	B;B;B	0.28850	0.225;0.01;0.225	B;B;B	0.20767	0.031;0.005;0.031	T	0.07731	-1.0757	10	0.72032	D	0.01	.	12.6579	0.56797	0.0865:0.0:0.9135:0.0	.	136;136;136	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	V	136	ENSP00000386711:A136V;ENSP00000282924:A136V;ENSP00000386925:A136V	ENSP00000282924:A136V	A	-	2	0	JAKMIP1	6158318	1.000000	0.71417	0.981000	0.43875	0.781000	0.44180	6.134000	0.71689	2.259000	0.74868	0.484000	0.47621	GCG		0.706	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		14	60	0	0	0	1	0	14	60					A	6107417	G	A	6107417	3	1	6	1	0	0	0	0	1	0	0	0	7970	1087	38	1	2239	1	JAKMIP1	4	6107417	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		6107417	185046859	35	649											
KLHL5	51088	broad.mit.edu	37	chr4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacttcttacttgggtcCgtcatgatttggaacagaga	10	8	2	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:39088270C>T	ENST00000504108.1	+	5	1457	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	KLHL5_ENST00000261425.3_Missense_Mutation_p.R346C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	392						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1036-1038)Cgt>Tgt		kelch-like family member 5							111	105	107					4																	39088270		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39088270C>T	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1174C>T	4.37:g.39088270C>T	ENSP00000423897:p.Arg392Cys					KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C	p.R346C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			6	1188	+			392					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1036C>T	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744383	0.69418	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.36	5.36	0.76844	BTB/Kelch-associated (2);	0.153324	0.64402	D	0.000013	D	0.85164	0.5634	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.71414	0.894;0.973;0.954	D	0.87043	0.2142	10	0.87932	D	0	.	19.0857	0.93202	0.0:1.0:0.0:0.0	.	331;392;392	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	C	426;346;205;392;392;392;331	ENSP00000261425:R346C;ENSP00000423080:R205C;ENSP00000423897:R392C;ENSP00000352716:R392C;ENSP00000371355:R392C;ENSP00000261426:R331C	ENSP00000261425:R346C	R	+	1	0	KLHL5	38764665	0.934000	0.31675	0.998000	0.56505	0.994000	0.84299	1.986000	0.40677	2.513000	0.84729	0.484000	0.47621	CGT		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			5	392	0	0	0	1	0	5	392					T	39088270	C	T	39088270	3	4	6	1	0	0	0	0	1	0	0	0	8422	652	23	1	1192	1	KLHL5	4	39088270	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	32980853	39088270	152066006	36	650											
DMP1	1758	broad.mit.edu	37	chr4	88583927	88583927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaagagagccaaaacGtagatggtcccagcagtgag	13	10	0	3	rs147275271	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:88583927G>A	ENST00000339673.6	+	6	1096	c.997G>A	c.(997-999)Gta>Ata	p.V333I	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.V317I|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	333					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCCAAAACGTAGATGGTCC	0.547													G|||	8	0.00159744	0.0053	0.0	5008	,	,		19645	0.0		0.0	False		,,,				2504	0.001					ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(997-999)Gta>Ata		dentin matrix acidic phosphoprotein 1		G	ILE/VAL,ILE/VAL	9,4397	16.8+/-37.8	0,9,2194	101	97	98		949,997	-4.4	0	4	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DMP1	NM_001079911.2,NM_004407.3	29,29	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	benign,benign	317/498,333/514	88583927	10,12996	2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583927G>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.997G>A	4.37:g.88583927G>A	ENSP00000340935:p.Val333Ile					RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.V317I	p.V333I	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1096	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	333					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.997G>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	3.132	-0.178230	0.06380	0.002043	1.16E-4	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.51325	0.71;0.71	5.11	-4.38	0.03622	.	2.186990	0.01837	N	0.035040	T	0.25791	0.0628	L	0.27053	0.805	0.09310	N	1	B;P	0.34662	0.407;0.462	B;B	0.29785	0.065;0.107	T	0.05954	-1.0854	10	0.21540	T	0.41	1.4837	0.1494	0.00091	0.3024:0.2321:0.2291:0.2365	.	317;333	Q13316-2;Q13316	.;DMP1_HUMAN	I	333;317	ENSP00000340935:V333I;ENSP00000282479:V317I	ENSP00000282479:V317I	V	+	1	0	DMP1	88802951	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-0.887000	0.03961	-1.724000	0.00704	GTA		0.547	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			33	235	0	0	0	1	0	33	235					A	88583927	G	A	88583927	3	1	6	1	0	0	0	0	1	0	0	0	4599	1145	40	1	1015	1	DMP1	4	88583927	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	49495657	88583927	102570349	37	651											
QRFPR	84109	broad.mit.edu	37	chr4	122258001	122258001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatgggtgatcctacgatGactgccaccagccagaccac	9	15	0	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:122258001G>A	ENST00000394427.2	-	3	933	c.522C>T	c.(520-522)gtC>gtT	p.V174V	QRFPR_ENST00000334383.5_Silent_p.V174V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	174					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATCCTACGATGACTGCCACCA	0.413																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(520-522)gtC>gtT		pyroglutamylated RFamide peptide receptor							229	216	220					4																	122258001		2203	4300	6503	SO:0001819	synonymous_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122258001G>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.522C>T	4.37:g.122258001G>A						QRFPR_ENST00000334383.5_Silent_p.V174V	p.V174V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			3	933	-			174						Silent	SNP	ENST00000394427.2	37	c.522C>T	CCDS3719.1																																																																																				0.413	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		152	721	0	0	0	1	0	152	721					A	122258001	G	A	122258001	2	1	6	1	0	0	0	0	0	0	0	1	12928	1277	45	2		2	QRFPR	4	122258001	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	33674074	122258001	68896275	38	652											
FBXW7	55294	broad.mit.edu	37	chr4	153244139	153244139	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgaggctctgatccgcCacacaactcccccactcccc	6	19	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:153244139C>T	ENST00000281708.4	-	12	3247	c.2018G>A	c.(2017-2019)tGg>tAg	p.W673*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W497*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W555*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W593*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W673*|RP11-461L13.3_ENST00000603766.1_lincRNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	673					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGATCCGCCACACAACTCC	0.498			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2017-2019)tGg>tAg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							186	183	184					4																	153244139		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244139C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2018G>A	4.37:g.153244139C>T	ENSP00000281708:p.Trp673*					FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W555*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W497*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W593*	p.W673*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3247	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	673					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.2018G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827871	0.90955	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	5.67	0.87782	.	0.119994	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4663	19.7667	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	673;555;593;497	.	ENSP00000263981:W593X	W	-	2	0	FBXW7	153463589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.681000	0.91329	0.655000	0.94253	TGG		0.498	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			88	619	0	0	0	1	0	88	619					T	153244139	C	T	153244139	4	4	6	1	0	0	0	0	0	1	0	0	5794	595	21	2	109	2	FBXW7	4	153244139	Nonsense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	30986138	153244139	37910137	39	653											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0	rs200909538	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	68	0	0	0	1	0	11	68					A	68692367	T	A	68692367	3	1	6	1	0	0	0	0	1	0	0	0	13029	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08		68692367	112222893	40	654											
CMYA5	202333	broad.mit.edu	37	chr5	79029066	79029066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagcaagggtagaagAcaaacaagatcttttatttt	10	4	1	4			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:79029066A>G	ENST00000446378.2	+	2	4509	c.4478A>G	c.(4477-4479)gAc>gGc	p.D1493G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1493					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGGTAGAAGACAAACAAGAT	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4477-4479)gAc>gGc		cardiomyopathy associated 5							121	116	118					5																	79029066		1854	4098	5952	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029066A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4478A>G	5.37:g.79029066A>G	ENSP00000394770:p.Asp1493Gly						p.D1493G	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4509	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1493					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4478A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.132640	0.01756	.	.	ENSG00000164309	ENST00000446378	T	0.44881	0.91	5.32	2.9	0.33743	.	0.493610	0.17051	N	0.188919	T	0.21347	0.0514	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17592	-1.0364	10	0.15952	T	0.53	.	6.9254	0.24412	0.8161:0.0:0.1839:0.0	.	1493	Q8N3K9	CMYA5_HUMAN	G	1493	ENSP00000394770:D1493G	ENSP00000394770:D1493G	D	+	2	0	CMYA5	79064822	0.000000	0.05858	0.042000	0.18584	0.034000	0.12701	0.586000	0.23894	1.058000	0.40530	0.533000	0.62120	GAC		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		79	532	0	0	0	1	0	79	532					G	79029066	A	G	79029066	3	3	6	1	0	0	0	0	1	0	0	0	3599	275	10	4	4484	4	CMYA5	5	79029066	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	10336699	79029066	101886194	41	655											
PCDHA2	56146	broad.mit.edu	37	chr5	140176168	140176168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgggatgCgggcgtgccgcctctgggca	19	13	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:140176168C>T	ENST00000526136.1	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A540V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A540V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.677																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1618-1620)gCg>gTg									59	63	62					5																	140176168		2203	4297	6500	SO:0001583	missense	0							g.chr5:140176168C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1619C>T	5.37:g.140176168C>T	ENSP00000431748:p.Ala540Val					PCDHA2_ENST00000520672.2_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A540V	p.A540V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1619	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1619C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	N	17.34	3.364269	0.61513	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53857	0.6;0.6;0.6	3.88	3.0	0.34707	Cadherin (4);Cadherin-like (1);	0.185110	0.25514	U	0.030147	T	0.66973	0.2844	L	0.61036	1.89	0.23975	N	0.996293	D;D;D	0.67145	0.996;0.995;0.996	D;P;D	0.67900	0.954;0.783;0.954	T	0.61412	-0.7068	10	0.87932	D	0	.	13.674	0.62443	0.0:0.8447:0.1553:0.0	.	540;540;540	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	540	ENSP00000430584:A540V;ENSP00000367372:A540V;ENSP00000431748:A540V	ENSP00000367372:A540V	A	+	2	0	PCDHA2	140156352	0.000000	0.05858	0.999000	0.59377	0.860000	0.49131	0.589000	0.23939	0.765000	0.33221	-0.155000	0.13514	GCG		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		5	478	0	0	0	1	0	5	478					T	140176168	C	T	140176168	3	4	6	1	0	0	0	0	1	0	0	0	11566	768	27	1	1621	1	PCDHA2	5	140176168	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	61147102	140176168	40739092	42	656											
SQSTM1	8878	broad.mit.edu	37	chr5	179247944	179247944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgccgctcgctatggcgtCgctcaccgtgaaggcctacc	11	17	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:179247944C>T	ENST00000389805.4	+	1	186	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000360718.5_5'Flank|SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	3	Interaction with LCK.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTATGGCGTCGCTCACCGTG	0.711																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(7-9)tCg>tTg		sequestosome 1							9	10	10					5																	179247944		2069	4078	6147	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179247944C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.8C>T	5.37:g.179247944C>T	ENSP00000374455:p.Ser3Leu					SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L	p.S3L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	186	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	3			Interaction with LCK.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.8C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885955	0.72410	.	.	ENSG00000161011	ENST00000389805;ENST00000504627;ENST00000510187	D;T;T	0.84944	-1.92;1.3;2.08	4.57	0.299	0.15771	Phox/Bem1p (1);	0.320727	0.25402	U	0.030926	T	0.72479	0.3465	L	0.58101	1.795	0.80722	D	1	P;B	0.51351	0.944;0.065	B;B	0.30179	0.112;0.004	T	0.68078	-0.5504	10	0.72032	D	0.01	-10.7097	4.5537	0.12126	0.1172:0.5961:0.1275:0.1592	.	3;3	Q13501;E7EMC7	SQSTM_HUMAN;.	L	3	ENSP00000374455:S3L;ENSP00000425957:S3L;ENSP00000424477:S3L	ENSP00000374455:S3L	S	+	2	0	SQSTM1	179180550	1.000000	0.71417	0.428000	0.26697	0.461000	0.32589	2.655000	0.46707	0.309000	0.22966	0.462000	0.41574	TCG		0.711	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			6	82	0	0	0	1	0	6	82					T	179247944	C	T	179247944	3	4	6	1	0	0	0	0	1	0	0	0	15182	893	31	1	10	1	SQSTM1	5	179247944	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	39071776	179247944	1667316	43	657											
LY86	9450	broad.mit.edu	37	chr6	6589102	6589102	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctctaccagagttgCggtaagcccttgcagtacac	11	11	1	1	rs201912095		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:6589102C>T	ENST00000379953.2	+	2	487	c.135C>T	c.(133-135)tgC>tgT	p.C45C	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000447858.1_RNA|LY86_ENST00000230568.4_Splice_Site_p.C45C			O95711	LY86_HUMAN	lymphocyte antigen 86	45					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					ACCAGAGTTGCGGTAAGCCCT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		13745	0.001		0.0	False		,,,				2504	0.0					ENST00000379953.2																			0				large_intestine(2)|lung(6)	8						c.e2+1		lymphocyte antigen 86		C		0,4406		0,0,2203	78	73	75		135	-5.1	0.9	6		75	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice	LY86	NM_004271.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		45/163	6589102	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6589102C>T	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.136+1C>T	6.37:g.6589102C>T						LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Splice_Site_p.C45_splice	p.C45_splice			O95711	LY86_HUMAN			2	487	+	Ovarian(93;0.0377)		45					Q9UQC4	Splice_Site	SNP	ENST00000379953.2	37	c.136_splice	CCDS4498.1																																																																																				0.587	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2		Silent	49	184	0	0	0	1	0	49	184					T	6589102	C	T	6589102	5	4	6	1	0	0	0	0	0	0	1	0	9139	782	27	1	137	1	LY86	6	6589102	Splice_Site	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		6589102	164525965	44	658											
RREB1	6239	broad.mit.edu	37	chr6	7230223	7230223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcatgacagcgcccGgcggcaagaagacgcccgcc	13	16	1	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:7230223G>A	ENST00000349384.6	+	10	2205	c.1891G>A	c.(1891-1893)Ggc>Agc	p.G631S	RREB1_ENST00000379938.2_Missense_Mutation_p.G631S|RREB1_ENST00000334984.6_Missense_Mutation_p.G631S|RREB1_ENST00000379933.3_Missense_Mutation_p.G631S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	631					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACAGCGCCCGGCGGCAAGAA	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1891-1893)Ggc>Agc		ras responsive element binding protein 1							21	23	23					6																	7230223		2201	4297	6498	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230223G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1891G>A	6.37:g.7230223G>A	ENSP00000305560:p.Gly631Ser					RREB1_ENST00000379933.3_Missense_Mutation_p.G631S|RREB1_ENST00000349384.6_Missense_Mutation_p.G631S|RREB1_ENST00000334984.6_Missense_Mutation_p.G631S	p.G631S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2428	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	631					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1891G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.475359	0.00167	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.11604	2.97;2.94;2.97;2.76;2.86	5.13	0.216	0.15258	.	0.747822	0.12041	N	0.505003	T	0.01800	0.0057	N	0.16478	0.41	0.09310	N	1	B;B;B	0.29188	0.236;0.039;0.007	B;B;B	0.19148	0.024;0.005;0.006	T	0.42515	-0.9447	10	0.33141	T	0.24	-14.9214	10.9984	0.47591	0.4186:0.0:0.5814:0.0	.	631;631;631	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	S	631	ENSP00000369265:G631S;ENSP00000369270:G631S;ENSP00000305560:G631S;ENSP00000335574:G631S;ENSP00000419511:G631S	ENSP00000335574:G631S	G	+	1	0	RREB1	7175222	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.002000	0.12924	-0.418000	0.07450	-0.977000	0.02584	GGC		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	108	0	0	0	1	0	4	108					A	7230223	G	A	7230223	3	1	6	1	0	0	0	0	1	0	0	0	13729	1116	39	1	1917	1	RREB1	6	7230223	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	641121	7230223	163884844	45	659											
RNF8	9025	broad.mit.edu	37	chr6	37349011	37349011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagaatgccccatttgtcGgaaggacattaagtccaaaa	9	8	0	1	rs553505501		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:37349011G>A	ENST00000373479.4	+	7	1515	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	441					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCCATTTGTCGGAAGGACATT	0.413																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1321-1323)cGg>cAg		ring finger protein 8, E3 ubiquitin protein ligase							156	136	143					6																	37349011		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37349011G>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1322G>A	6.37:g.37349011G>A	ENSP00000362578:p.Arg441Gln					RNF8_ENST00000469731.1_Intron	p.R441Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			7	1515	+			441					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1322G>A	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473197	0.96274	.	.	ENSG00000112130	ENST00000373479	T	0.60797	0.16	6.08	6.08	0.98989	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.068846	0.64402	D	0.000015	T	0.78136	0.4236	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79631	-0.1723	10	0.66056	D	0.02	-13.1243	19.6603	0.95864	0.0:0.0:1.0:0.0	.	441	O76064	RNF8_HUMAN	Q	441	ENSP00000362578:R441Q	ENSP00000362578:R441Q	R	+	2	0	RNF8	37456989	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CGG		0.413	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			5	428	0	0	0	1	0	5	428					A	37349011	G	A	37349011	3	1	6	1	0	0	0	0	1	0	0	0	13550	1116	39	1	1348	1	RNF8	6	37349011	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	30118788	37349011	133766056	46	660											
GUCA1B	2979	broad.mit.edu	37	chr6	42152645	42152645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacccacttgtcccgacGggcaccttcaacaaactcgt	6	17	2	0	rs370510441		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:42152645G>T	ENST00000230361.3	-	4	606	c.511C>A	c.(511-513)Cgt>Agt	p.R171S		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	171	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|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)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTGTCCCGACGGGCACCTTCA	0.577																																						ENST00000230361.3																			0				large_intestine(3)|lung(3)|skin(2)	8						c.(511-513)Cgt>Agt		guanylate cyclase activator 1B (retina)							107	97	101					6																	42152645		2203	4300	6503	SO:0001583	missense	2979				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42152645G>T	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.511C>A	6.37:g.42152645G>T	ENSP00000230361:p.Arg171Ser						p.R171S	NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)		4	606	-	Colorectal(47;0.196)		171			EF-hand 4.		Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	37	c.511C>A	CCDS4865.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425131	0.83667	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.54866	0.55	4.12	4.12	0.48240	EF-hand-like domain (1);	0.052845	0.85682	D	0.000000	T	0.38026	0.1025	L	0.46157	1.445	0.80722	D	1	P	0.50369	0.934	B	0.43194	0.411	T	0.48958	-0.8988	10	0.87932	D	0	.	14.6554	0.68828	0.0:0.0:1.0:0.0	.	171	Q9UMX6	GUC1B_HUMAN	S	171;163	ENSP00000230361:R171S	ENSP00000230361:R171S	R	-	1	0	GUCA1B	42260623	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.425000	0.59875	2.243000	0.73865	0.655000	0.94253	CGT		0.577	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		5	298	1	0	1.23904e-05	1	1.26637e-05	5	298					T	42152645	G	T	42152645	3	4	6	1	0	0	0	0	1	0	0	0	6919	1116	39	3	95	3	GUCA1B	6	42152645	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4803634	42152645	128962422	47	661											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	88	0	0	0	1	0	4	88					A	45390463	G	A	45390463	2	1	6	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	3237818	45390463	125724604	48	662	8	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	83	0	0	0	1	0	5	83					G	45390466	A	G	45390466	2	3	6	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	3	45390466	125724601	49	663	8	2									
BACH2	60468	broad.mit.edu	37	chr6	90660846	90660847	+	Frame_Shift_Ins	INS	-	-	G													ctggatctctccaggcaggcINSggccccagctggggccgtgg							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:90660846_90660847insG	ENST00000257749.4	-	7	1685_1686	c.978_979insC	c.(976-981)gccgccfs	p.A327fs	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Frame_Shift_Ins_p.A327fs|BACH2_ENST00000537989.1_Frame_Shift_Ins_p.A327fs	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	327						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCAGGCAGGCGGCCCCAGCTG	0.634																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(976-981)gccctgfs		BTB and CNC homology 1, basic leucine zipper transcription factor 2																																				SO:0001589	frameshift_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660846_90660847insG	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.979dupC	6.37:g.90660848_90660848dupG	ENSP00000257749:p.Ala327fs					BACH2_ENST00000537989.1_Frame_Shift_Ins_p.L327fs|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Frame_Shift_Ins_p.L327fs|RP3-512E2.2_ENST00000445838.1_RNA	p.L327fs	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1685_1686	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	327					E1P518|Q59H70|Q5T793|Q9NTS5	Frame_Shift_Ins	INS	ENST00000257749.4	37	c.978_979insC	CCDS5026.1																																																																																				0.634	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		7	183						7	183	---	---	---	---	G	90660847	-	G	90660846	7	5	6	1	0	1	1	0	0	0	0	0	1285	768	27	0	1558	0	BACH2	6	90660846	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08	45270380	90660846	80454221	50	664											
EPHA7	2045	broad.mit.edu	37	chr6	93967819	93967819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatataaccaatatctacctCttgtaacaaccccttccaaa	2	13	2	0	rs370400794		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:93967819C>T	ENST00000369303.4	-	11	2292	c.2108G>A	c.(2107-2109)aGa>aAa	p.R703K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATATCTACCTCTTGTAACAAC	0.343																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2107-2109)aGa>aAa		EPH receptor A7							86	86	86					6																	93967819		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967819C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2108G>A	6.37:g.93967819C>T	ENSP00000358309:p.Arg703Lys						p.R703K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	11	2292	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	703			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2108G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260255	0.39995	.	.	ENSG00000135333	ENST00000369303	D	0.81659	-1.52	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	N	0.17723	0.515	0.80722	D	1	P;D;D	0.62365	0.747;0.989;0.991	P;P;P	0.62089	0.778;0.837;0.898	T	0.68172	-0.5479	10	0.02654	T	1	.	20.6314	0.99525	0.0:1.0:0.0:0.0	.	699;698;703	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	703	ENSP00000358309:R703K	ENSP00000358309:R703K	R	-	2	0	EPHA7	94024540	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	6.063000	0.71162	2.885000	0.99019	0.579000	0.79373	AGA		0.343	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			44	181	0	0	0	1	0	44	181					T	93967819	C	T	93967819	3	4	6	1	0	0	0	0	1	0	0	0	5190	913	32	2	916	2	EPHA7	6	93967819	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	3306973	93967819	77147248	51	665											
MLLT4	4301	broad.mit.edu	37	chr6	168299092	168299092	+	Frame_Shift_Del	DEL	G	G	-													ccagtcaggatcatgctcttGcaaaaagatctgtggatgga							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:168299092delG	ENST00000447894.2	+	11	1525	c.1525delG	c.(1525-1527)gcafs	p.A509fs	MLLT4_ENST00000392108.3_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.A508fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.A493fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.A509fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	509					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCATGCTCTTGCAAAAAGATC	0.438			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1525-1527)cafs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							63	57	59					6																	168299092		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168299092delG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1525delG	6.37:g.168299092delG	ENSP00000404595:p.Ala509fs					MLLT4_ENST00000351017.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.A508fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.A493fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.A509fs	p.A509fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	11	1667	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	509					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.1525delG																																																																																					0.438	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		29	182						29	182	---	---	---	---	-	168299092	G	-	168299092	7	5	6	1	0	1	0	1	0	0	0	0	9670	1319	46	0	1567	0	MLLT4	6	168299092	Frame_Shift_Del	DEL	G	TCGA-2J-AABA-01A-21D-A40W-08	74331273	168299092	2815975	52	666											
INTS1	26173	broad.mit.edu	37	chr7	1522220	1522220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcagaacggatcatgCgcagcttcagccagtcagga	11	13	4	1	rs370023670		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:1522220C>T	ENST00000404767.3	-	27	3750	c.3665G>A	c.(3664-3666)cGc>cAc	p.R1222H	INTS1_ENST00000389470.4_Missense_Mutation_p.R1384H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1222					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACGGATCATGCGCAGCTTCAG	0.667																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(4150-4152)cGc>cAc		integrator complex subunit 1			HIS/ARG	1,4245		0,1,2122	45	55	52		3665	4.7	1	7		52	0,8476		0,0,4238	no	missense	INTS1	NM_001080453.2	29	0,1,6360	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	1222/2191	1522220	1,12721	2123	4238	6361	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1522220C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3665G>A	7.37:g.1522220C>T	ENSP00000385722:p.Arg1222His					INTS1_ENST00000404767.3_Missense_Mutation_p.R1222H	p.R1384H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	28	4150	-		Ovarian(82;0.0253)	1222					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.4151G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597216	0.96602	2.36E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.59502	0.26;0.39	4.67	4.67	0.58626	.	0.000000	0.45606	U	0.000346	T	0.70824	0.3268	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	P	0.56042	0.79	T	0.76599	-0.2900	10	0.87932	D	0	.	17.5786	0.87958	0.0:1.0:0.0:0.0	.	1222	Q8N201	INT1_HUMAN	H	1222;1384	ENSP00000385722:R1222H;ENSP00000374121:R1384H	ENSP00000374121:R1384H	R	-	2	0	INTS1	1488746	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.540000	0.82074	2.154000	0.67381	0.561000	0.74099	CGC		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			64	239	0	0	0	1	0	64	239					T	1522220	C	T	1522220	3	4	6	1	0	0	0	0	1	0	0	0	7805	768	27	1	2995	1	INTS1	7	1522220	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		1522220	157616443	53	667											
ACTB	60	broad.mit.edu	37	chr7	5569258	5569260	+	In_Frame_Del	DEL	CGA	CGA	-													gcacatgccggagccgttgtCgacgacgagcgcggcgatat							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:5569258_5569260delCGA	ENST00000331789.5	-	2	220_222	c.29_31delTCG	c.(28-33)gtcgac>gac	p.V10del	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	10					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAGCCGTTGTCGACGACGAGCGC	0.719																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(28-33)gac>g		actin, beta																																				SO:0001651	inframe_deletion	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5569258_5569260delCGA	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.29_31delTCG	7.37:g.5569264_5569266delCGA	ENSP00000349960:p.Val10del						p.VD10del	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	2	220_222	-		Ovarian(82;0.0606)	10					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	In_Frame_Del	DEL	ENST00000331789.5	37	c.29_31delTCG	CCDS5341.1																																																																																				0.719	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		38	244						38	244	---	---	---	---	-	5569260	CGA	-	5569258	7	5	6	1	0	1	0	1	0	0	0	0	193	884	31	0	1116	0	ACTB	7	5569258	In_Frame_Del	DEL	CGA	TCGA-2J-AABA-01A-21D-A40W-08	4047038	5569258	153569405	54	668											
HOXA4	3201	broad.mit.edu	37	chr7	27169037	27169037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccagatcttgacctggCgctcagacaaacagagcgtg	11	11	2	4	rs200302499		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:27169037C>T	ENST00000360046.5	-	2	835	c.770G>A	c.(769-771)cGc>cAc	p.R257H	HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R257H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	257					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTTGACCTGGCGCTCAGACAA	0.572																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(769-771)cGc>cAc		homeobox A4		C	HIS/ARG	0,4406		0,0,2203	220	183	195		770	5.3	1	7		195	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOXA4	NM_002141.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	257/321	27169037	1,13005	2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169037C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.770G>A	7.37:g.27169037C>T	ENSP00000353151:p.Arg257His					HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.R257H	p.R257H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	835	-			257					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.770G>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837480	0.91117	0.0	1.16E-4	ENSG00000197576	ENST00000360046;ENST00000428284	D;D	0.96802	-4.13;-4.13	5.29	5.29	0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000011	D	0.98438	0.9480	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99494	1.0951	10	0.87932	D	0	.	18.9816	0.92757	0.0:1.0:0.0:0.0	.	257	Q00056	HXA4_HUMAN	H	257	ENSP00000353151:R257H;ENSP00000408845:R257H	ENSP00000353151:R257H	R	-	2	0	HOXA4	27135562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.485000	0.83878	0.555000	0.69702	CGC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			83	413	0	0	0	1	0	83	413					T	27169037	C	T	27169037	3	4	6	1	0	0	0	0	1	0	0	0	7324	768	27	1	196	1	HOXA4	7	27169037	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	21599779	27169037	131969626	55	669											
HECW1	23072	broad.mit.edu	37	chr7	43590047	43590047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttcctacaaggtcAcggaaagggagttgaagtct	11	7	3	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43590047A>G	ENST00000395891.2	+	27	4857	c.4252A>G	c.(4252-4254)Acg>Gcg	p.T1418A	HECW1_ENST00000453890.1_Missense_Mutation_p.T1384A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1418	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAAGGTCACGGAAAGGGA	0.507																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4252-4254)Acg>Gcg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							74	83	80					7																	43590047		2144	4263	6407	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43590047A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4252A>G	7.37:g.43590047A>G	ENSP00000379228:p.Thr1418Ala					HECW1_ENST00000453890.1_Missense_Mutation_p.T1384A	p.T1418A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			27	4857	+			1418			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4252A>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487153	0.84854	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.57273	0.41;0.41	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	L	0.31926	0.97	0.80722	D	1	D;B	0.55605	0.972;0.048	D;B	0.67231	0.95;0.027	T	0.56432	-0.7980	10	0.25751	T	0.34	.	15.8276	0.78727	1.0:0.0:0.0:0.0	.	1384;1418	B4DH42;Q76N89	.;HECW1_HUMAN	A	1418;1384;1418	ENSP00000379228:T1418A;ENSP00000407774:T1384A	ENSP00000265522:T1418A	T	+	1	0	HECW1	43556572	1.000000	0.71417	0.986000	0.45419	0.929000	0.56500	8.962000	0.93254	2.122000	0.65172	0.533000	0.62120	ACG		0.507	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		5	105	0	0	0	1	0	5	105					G	43590047	A	G	43590047	3	3	6	1	0	0	0	0	1	0	0	0	7072	159	6	4	4350	4	HECW1	7	43590047	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	16421010	43590047	115548616	56	670											
BLVRA	644	broad.mit.edu	37	chr7	43810766	43810766	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaccaagatgaatgcAgaggtgagttctttacaaag	12	5	1	5			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43810766A>T	ENST00000402924.1	+	3	172	c.9A>T	c.(7-9)gcA>gcT	p.A3A	BLVRA_ENST00000265523.4_Silent_p.A3A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	3			A -> T (in dbSNP:rs699512). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8950184, ECO:0000269|Ref.4}.		heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						AGATGAATGCAGAGGTGAGTT	0.463																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(7-9)gcA>gcT		biliverdin reductase A	NADH(DB00157)						168	166	167					7																	43810766		2203	4300	6503	SO:0001819	synonymous_variant	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43810766A>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.9A>T	7.37:g.43810766A>T						BLVRA_ENST00000265523.4_Silent_p.A3A	p.A3A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			3	172	+			3		A -> T (in dbSNP:rs699512).			A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	c.9A>T	CCDS5472.1																																																																																				0.463	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		42	199	0	0	0	1	0	42	199					T	43810766	A	T	43810766	2	4	6	1	0	0	0	0	0	0	0	1	1453	175	7	5		5	BLVRA	7	43810766	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	220719	43810766	115327897	57	671											
FAM40B	57464	broad.mit.edu	37	chr7	129096387	129096387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaggtggtgaagagcatGcgtgctgcctccccgccctc	12	15	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:129096387G>A	ENST00000249344.2	+	9	982	c.942G>A	c.(940-942)atG>atA	p.M314I	STRIP2_ENST00000435494.2_Missense_Mutation_p.M314I	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	314					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TGAAGAGCATGCGTGCTGCCT	0.597																																						ENST00000249344.2																			0											c.(940-942)atG>atA		striatin interacting protein 2							94	85	88					7																	129096387		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129096387G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.942G>A	7.37:g.129096387G>A	ENSP00000249344:p.Met314Ile					STRIP2_ENST00000435494.2_Missense_Mutation_p.M314I	p.M314I	NM_020704.2	NP_065755.1					9	982	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.942G>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466975	0.96257	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.50001	0.77;0.76	5.8	5.8	0.92144	.	0.042783	0.85682	D	0.000000	T	0.72875	0.3515	M	0.86343	2.81	0.80722	D	1	P;D	0.63046	0.925;0.992	D;D	0.67900	0.954;0.954	T	0.74191	-0.3745	10	0.45353	T	0.12	-27.3349	18.6318	0.91363	0.0:0.0:1.0:0.0	.	314;314	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	I	314	ENSP00000249344:M314I;ENSP00000392393:M314I	ENSP00000249344:M314I	M	+	3	0	FAM40B	128883623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.758000	0.94735	0.561000	0.74099	ATG		0.597	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		69	299	0	0	0	1	0	69	299					A	129096387	G	A	129096387	3	1	6	1	0	0	0	0	1	0	0	0	5586	1319	46	2	976	2	FAM40B	7	129096387	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	85285621	129096387	30042276	58	672											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394465	138394466	+	Frame_Shift_Ins	INS	-	-	C													tacggcaaaaataataaaaaINSccccgacgattcctccccag							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:138394465_138394466insC	ENST00000310018.2	-	21	2614_2615	c.2332_2333insG	c.(2332-2334)gttfs	p.V778fs	ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.V778fs|ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.V778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	778					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATAATAAAAACCCCGACGATT	0.53																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36	GRCh37	CD023241	ATP6V0A4	D		c.(2332-2334)tttfs		ATPase, H+ transporting, lysosomal V0 subunit a4																																				SO:0001589	frameshift_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394465_138394466insC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2333dupG	7.37:g.138394469_138394469dupC	ENSP00000308122:p.Val778fs					ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.F778fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.F778fs	p.F778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2614_2615	-			778					A4D1R4|A8KA80|Q32M47	Frame_Shift_Ins	INS	ENST00000310018.2	37	c.2332_2333insG	CCDS5849.1																																																																																				0.53	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		9	849						9	849	---	---	---	---	C	138394466	-	C	138394465	7	5	6	1	0	1	1	0	0	0	0	0	1171	43	2	0	197	0	ATP6V0A4	7	138394465	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08	9298078	138394465	20744198	59	673											
ABP1	26	broad.mit.edu	37	chr7	150553842	150553842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaaaggcatcctgtgcGggaagcccgtgccgtcatct	14	11	2	1	rs572549369		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:150553842G>A	ENST00000493429.1	+	4	868	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	AOC1_ENST00000416793.2_Missense_Mutation_p.R95Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R95Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R95Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	95					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CATCCTGTGCGGGAAGCCCGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19425	0.0		0.0	False		,,,				2504	0.001					ENST00000493429.1																			0											c.(283-285)cGg>cAg		amine oxidase, copper containing 1							125	123	123					7																	150553842		2019	4190	6209	SO:0001583	missense	26							g.chr7:150553842G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.284G>A	7.37:g.150553842G>A	ENSP00000418614:p.Arg95Gln					AOC1_ENST00000416793.2_Missense_Mutation_p.R95Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R95Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R95Q	p.R95Q							4	868	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.284G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232600	0.79688	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.32	5.32	0.75619	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90459	0.7012	M	0.91717	3.235	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92446	0.5966	10	0.87932	D	0	-2.6602	16.4782	0.84144	0.0:0.0:1.0:0.0	.	95;95	C9J690;P19801	.;ABP1_HUMAN	Q	95	ENSP00000418614:R95Q;ENSP00000418328:R95Q;ENSP00000418557:R95Q;ENSP00000354193:R95Q;ENSP00000411613:R95Q;ENSP00000417392:R95Q	ENSP00000354193:R95Q	R	+	2	0	ABP1	150184775	1.000000	0.71417	0.977000	0.42913	0.347000	0.29111	9.133000	0.94460	2.501000	0.84356	0.655000	0.94253	CGG		0.567	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		10	489	0	0	0	1	0	10	489					A	150553842	G	A	150553842	3	1	6	1	0	0	0	0	1	0	0	0	98	1116	39	1	286	1	ABP1	7	150553842	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	12159377	150553842	8584821	60	674											
WRN	7486	broad.mit.edu	37	chr8	30924630	30924630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaaagacaagtctatcCgctgtagcaattggagtaaa	9	8	1	2	rs375762379		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAGTCTATCCGCTGTAGCAA	0.413			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(586-588)Cgc>Tgc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	81	85		586	5.8	1	8		85	0,8600		0,0,4300	no	missense	WRN	NM_000553.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/1433	30924630	1,13005	2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924630C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.586C>T	8.37:g.30924630C>T	ENSP00000298139:p.Arg196Cys						p.R196C	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	835	+		Breast(100;0.195)	196			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.586C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886939	0.91814	2.27E-4	0.0	ENSG00000165392	ENST00000298139	T	0.63913	-0.07	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.056461	0.64402	N	0.000001	D	0.85444	0.5698	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88398	0.3013	10	0.87932	D	0	-10.7416	19.6956	0.96023	0.0:1.0:0.0:0.0	.	196	Q14191	WRN_HUMAN	C	196	ENSP00000298139:R196C	ENSP00000298139:R196C	R	+	1	0	WRN	31044172	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	6.162000	0.71874	2.757000	0.94681	0.561000	0.74099	CGC		0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			48	274	0	0	0	1	0	48	274					T	30924630	C	T	30924630	3	4	6	1	0	0	0	0	1	0	0	0	17456	652	23	1	604	1	WRN	8	30924630	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		30924630	115439392	61	675											
ZNF704	619279	broad.mit.edu	37	chr8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-													tggtcaaggatccggctggcTtttttggtgtctgctgtttt							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39							metal ion binding (GO:0046872)			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)			TCCGGCTGGCTTTTTTGGTGT	0.428																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(115-117)aafs		zinc finger protein 704							329	308	315					8																	81733713		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733713delT	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.117delA	8.37:g.81733713delT	ENSP00000331462:p.Lys39fs						p.K39fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	348	-	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)		39					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.117delA	CCDS34913.1																																																																																				0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		7	1346						7	1346	---	---	---	---	-	81733713	T	-	81733713	7	5	6	1	0	1	0	1	0	0	0	0	18160	1606	56	0	1153	0	ZNF704	8	81733713	Frame_Shift_Del	DEL	T	TCGA-2J-AABA-01A-21D-A40W-08	50809083	81733713	64630309	62	676											
RIMS2	9699	broad.mit.edu	37	chr8	105263381	105263381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagagtccacaaggaaAagttttacaggtatctactt	9	7	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:105263381A>C	ENST00000436393.2	+	27	4116	c.3875A>C	c.(3874-3876)aAa>aCa	p.K1292T	RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113T|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1088T|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274T|RIMS2_ENST00000339750.2_Missense_Mutation_p.K210T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1336	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CCACAAGGAAAAGTTTTACAG	0.368										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(3262-3264)aAa>aCa		regulating synaptic membrane exocytosis 2							62	53	55					8																	105263381		1803	4073	5876	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263381A>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3875A>C	8.37:g.105263381A>C	ENSP00000390665:p.Lys1292Thr	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274T|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292T|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113T|RIMS2_ENST00000339750.2_Missense_Mutation_p.K210T	p.K1088T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3499	+			1336					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3263A>C		.	.	.	.	.	.	.	.	.	.	A	20.2	3.951323	0.73787	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.24	4.03	0.46877	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.79143	0.4396	M	0.72624	2.21	0.58432	D	0.999998	D;P;P;D;D	0.76494	0.994;0.787;0.933;0.999;0.999	D;P;D;D;D	0.85130	0.994;0.69;0.963;0.997;0.997	T	0.79811	-0.1646	9	0.66056	D	0.02	.	11.4916	0.50383	0.9278:0.0:0.0722:0.0	.	1336;1292;1113;1088;1274	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	1311;1274;1336;1113;1088;1292;210;210	ENSP00000384892:K1274T;ENSP00000262231:K1113T;ENSP00000423559:K1088T;ENSP00000390665:K1292T;ENSP00000428478:K210T;ENSP00000342051:K210T	ENSP00000262231:K1113T	K	+	2	0	RIMS2	105332557	1.000000	0.71417	0.904000	0.35570	0.985000	0.73830	7.451000	0.80668	0.889000	0.36185	0.477000	0.44152	AAA		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		13	67	0	0	0	1	0	13	67					C	105263381	A	C	105263381	3	2	6	1	0	0	0	0	1	0	0	0	13418	14	1	4	4107	4	RIMS2	8	105263381	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	23529668	105263381	41100641	63	677											
C9orf150	286343	broad.mit.edu	37	chr9	12821607	12821607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctggatggcatttccGtgggaagttatctggacacg	15	7	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr9:12821607G>A	ENST00000319264.3	+	2	1230	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	182																	TGGCATTTCCGTGGGAAGTTA	0.547																																						ENST00000319264.3																			0											c.(535-537)Gtg>Atg		leucine rich adaptor protein 1-like							165	144	151					9																	12821607		2203	4300	6503	SO:0001583	missense	286343							g.chr9:12821607G>A	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.535G>A	9.37:g.12821607G>A	ENSP00000321026:p.Val179Met						p.V179M	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			2	1230	+			182					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.535G>A	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173956	0.78452	.	.	ENSG00000153714	ENST00000319264	T	0.57907	0.37	5.49	5.49	0.81192	.	0.279700	0.27437	N	0.019368	T	0.68604	0.3019	L	0.46157	1.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.79108	0.992	T	0.70414	-0.4878	10	0.87932	D	0	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	182	Q8IV03	CI150_HUMAN	M	179	ENSP00000321026:V179M	ENSP00000321026:V179M	V	+	1	0	C9orf150	12811607	1.000000	0.71417	0.977000	0.42913	0.951000	0.60555	5.088000	0.64486	2.578000	0.87016	0.563000	0.77884	GTG		0.547	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		5	314	0	0	0	1	0	5	314					A	12821607	G	A	12821607	3	1	6	1	0	0	0	0	1	0	0	0	2469	1145	40	1	541	1	C9orf150	9	12821607	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		12821607	128391824	64	678											
NEBL	10529	broad.mit.edu	37	chr10	21158753	21158753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgggtgtcctgcacGtctttcctataagaaatctg	10	9	2	1	rs371105861		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr10:21158753G>A	ENST00000377122.4	-	6	894	c.498C>T	c.(496-498)gaC>gaT	p.D166D	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.D166D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	166					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCTGCACGTCTTTCCTAT	0.358																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(496-498)gaC>gaT		nebulette		G	,,	0,4406		0,0,2203	173	147	155		,498,	2.2	0.5	10		155	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,166/1015,	21158753	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21158753G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.498C>T	10.37:g.21158753G>A						NEBL_ENST00000377119.1_Silent_p.D166D|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.D166D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			6	894	-			166					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.498C>T	CCDS7134.1																																																																																				0.358	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		61	254	0	0	0	1	0	61	254					A	21158753	G	A	21158753	2	1	6	1	0	0	0	0	0	0	0	1	10345	1136	40	1		1	NEBL	10	21158753	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		21158753	114375994	65	679											
DDX50	79009	broad.mit.edu	37	chr10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A													tggagatatagatgaatatgINSaaaaaaaatcaaagcgagta							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		8	524						8	524	---	---	---	---	A	70666693	-	A	70666692	7	5	6	1	0	1	1	0	0	0	0	0	4379	1291	45	0	319	0	DDX50	10	70666692	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08	49507939	70666692	64868055	66	680											
MUC2	4583	broad.mit.edu	37	chr11	1092201	1092201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacatcgagtgcaggtcGgtcaaggatccccacctcag	13	12	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1092201G>A	ENST00000441003.2	+	30	4047	c.4020G>A	c.(4018-4020)tcG>tcA	p.S1340S	MUC2_ENST00000359061.5_Silent_p.S1341S|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Silent_p.S6S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1340					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTGCAGGTCGGTCAAGGATC	0.557																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(4018-4020)tcG>tcA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						110	118	116					11																	1092201		2152	4239	6391	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1092201G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4020G>A	11.37:g.1092201G>A						MUC2_ENST00000361558.6_Silent_p.S6S|MUC2_ENST00000359061.5_Silent_p.S1341S	p.S1340S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	4047	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1340					Q14878	Silent	SNP	ENST00000441003.2	37	c.4020G>A																																																																																					0.557	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		19	104	0	0	0	1	0	19	104					A	1092201	G	A	1092201	2	1	6	1	0	0	0	0	0	0	0	1	10016	1103	39	1		1	MUC2	11	1092201	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		1092201	133914315	67	681											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0	rs368194612		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	MUC5B_ENST00000447027.1_Silent_p.P3413P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148	179	169					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		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)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	38	0	0	0	1	0	4	38					T	1268340	A	T	1268340	2	4	6	1	0	0	0	0	0	0	0	1	10020	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	176139	1268340	133738176	68	682											
ACCS	84680	broad.mit.edu	37	chr11	44089316	44089316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagaagctgccagagCtccgtggagtgggtgatcct	15	10	0	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:44089316C>G	ENST00000263776.8	+	2	573	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.L47V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	47					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGCCAGAGCTCCGTGGAGT	0.552																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(139-141)Ctc>Gtc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							91	90	91					11																	44089316		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44089316C>G	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.139C>G	11.37:g.44089316C>G	ENSP00000263776:p.Leu47Val					ACCS_ENST00000432284.2_Missense_Mutation_p.L47V|ACCS_ENST00000533208.1_3'UTR	p.L47V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			2	573	+			47					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.139C>G	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	C	2.726	-0.265394	0.05754	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.60548	1.21;0.18;1.21;0.82	4.94	-0.726	0.11170	.	1.197120	0.05715	N	0.596590	T	0.44095	0.1277	L	0.40543	1.245	0.09310	N	1	B;B	0.32829	0.386;0.099	B;B	0.34242	0.178;0.027	T	0.33727	-0.9857	10	0.38643	T	0.18	-1.6262	1.7604	0.02991	0.1416:0.4323:0.1391:0.287	.	47;47	B4E219;Q96QU6	.;1A1L1_HUMAN	V	47	ENSP00000434156:L47V;ENSP00000263776:L47V;ENSP00000391775:L47V;ENSP00000435919:L47V	ENSP00000263776:L47V	L	+	1	0	ACCS	44045892	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	-1.526000	0.02229	-0.001000	0.14495	0.655000	0.94253	CTC		0.552	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		35	205	0	0	0	1	0	35	205					G	44089316	C	G	44089316	3	3	6	1	0	0	0	0	1	0	0	0	133	797	28	5	141	5	ACCS	11	44089316	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	42820976	44089316	90917200	69	683											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		8	857	0	0	0	1	0	8	857					A	66392698	G	A	66392698	3	1	6	1	0	0	0	0	1	0	0	0	13165	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	22303382	66392698	68613818	70	684											
SPTBN2	6712	broad.mit.edu	37	chr11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacccacctcctcggccGcatagtggctcctggccagc	9	20	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCGGCCGCATAGTGGCT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gCg>gTg		spectrin, beta, non-erythrocytic 2							92	99	97					11																	66457286		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457286G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5939C>T	11.37:g.66457286G>A	ENSP00000432568:p.Ala1980Val					SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V	p.A1980V			O15020	SPTN2_HUMAN			29	6270	-			1980					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5939C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284480	0.95517	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.54279	0.58;0.58;0.58	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.74768	-0.3553	10	0.33141	T	0.24	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	1980	O15020	SPTN2_HUMAN	V	1980	ENSP00000432568:A1980V;ENSP00000311489:A1980V;ENSP00000433593:A1980V	ENSP00000311489:A1980V	A	-	2	0	SPTBN2	66213862	1.000000	0.71417	0.814000	0.32528	0.895000	0.52256	5.519000	0.67074	2.664000	0.90586	0.655000	0.94253	GCG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	451	0	0	0	1	0	5	451					A	66457286	G	A	66457286	3	1	6	1	0	0	0	0	1	0	0	0	15172	1087	38	1	1273	1	SPTBN2	11	66457286	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	64588	66457286	68549230	71	685											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		15	498						15	498	---	---	---	---	-	77069992	CAT	-	77069990	7	5	6	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2J-AABA-01A-21D-A40W-08	10612704	77069990	57936526	72	686											
STT3A	3703	broad.mit.edu	37	chr11	125476284	125476284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggccgtttctctcaccGgatctatgtggcctactgta	9	13	3	0	rs188651061		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:125476284G>A	ENST00000529196.1	+	9	910	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	STT3A_ENST00000392708.4_Missense_Mutation_p.R235Q|STT3A_ENST00000531491.1_Missense_Mutation_p.R143Q			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	235					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTCTCACCGGATCTATGTG	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17546	0.0		0.0	False		,,,				2504	0.0					ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(703-705)cGg>cAg		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							346	296	313					11																	125476284		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125476284G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.704G>A	11.37:g.125476284G>A	ENSP00000436962:p.Arg235Gln					STT3A_ENST00000531491.1_Missense_Mutation_p.R143Q|STT3A_ENST00000529196.1_Missense_Mutation_p.R235Q	p.R235Q	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	8	863	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	235					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.704G>A	CCDS8458.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	37	6.154801	0.97329	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85243	0.5652	M	0.88775	2.98	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.68765	0.74;0.96;0.96	D	0.86443	0.1768	9	0.66056	D	0.02	-15.5244	20.177	0.98182	0.0:0.0:1.0:0.0	.	143;143;235	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	Q	235;235;143	.	ENSP00000376472:R235Q	R	+	2	0	STT3A	124981494	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.912000	0.87465	2.854000	0.98071	0.655000	0.94253	CGG		0.493	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		7	653	0	0	0	1	0	7	653					A	125476284	G	A	125476284	3	1	6	1	0	0	0	0	1	0	0	0	15385	1116	39	1	730	1	STT3A	11	125476284	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	48406294	125476284	9530232	73	687											
ACSM4	341392	broad.mit.edu	37	chr12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-													tcctttgggaaccatgaagaTttttttccgctaccagacat							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134	130	131					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	786						8	786	---	---	---	---	-	7456935	T	-	7456935	7	5	6	1	0	1	0	1	0	0	0	0	186	1493	52	0	10	0	ACSM4	12	7456935	Frame_Shift_Del	DEL	T	TCGA-2J-AABA-01A-21D-A40W-08		7456935	126394960	74	688											
MAP3K12	7786	broad.mit.edu	37	chr12	53877780	53877780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaatcttttcaaagtgcaGttttacttcttcccgccact	4	12	3	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:53877780G>T	ENST00000267079.2	-	9	1399	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Missense_Mutation_p.L425M|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L425M	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	392	Leucine-zipper 1.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCAAAGTGCAGTTTTACTTCT	0.537																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1174-1176)Ctg>Atg		mitogen-activated protein kinase kinase kinase 12							113	112	113					12																	53877780		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877780G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1174C>A	12.37:g.53877780G>T	ENSP00000267079:p.Leu392Met					MAP3K12_ENST00000547488.1_Missense_Mutation_p.L425M|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L425M	p.L392M	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			9	1399	-			392			Leucine-zipper 1.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1174C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565054	0.65651	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75938	-0.98;-0.98;-0.98	4.45	4.45	0.53987	Protein kinase-like domain (1);	0.000000	0.35708	N	0.003022	T	0.65852	0.2731	N	0.08118	0	0.39261	D	0.964214	D;D	0.56287	0.975;0.957	P;P	0.56343	0.796;0.629	T	0.69895	-0.5021	10	0.48119	T	0.1	.	10.067	0.42311	0.0946:0.0:0.9054:0.0	.	425;392	G3V1Y2;Q12852	.;M3K12_HUMAN	M	392;425;425	ENSP00000267079:L392M;ENSP00000449038:L425M;ENSP00000448689:L425M	ENSP00000267079:L392M	L	-	1	2	MAP3K12	52164047	0.460000	0.25776	1.000000	0.80357	0.995000	0.86356	1.922000	0.40045	2.502000	0.84385	0.462000	0.41574	CTG		0.537	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		8	367	1	0	3.28013e-08	1	3.40252e-08	8	367					T	53877780	G	T	53877780	3	4	6	1	0	0	0	0	1	0	0	0	9287	1020	36	3	1433	3	MAP3K12	12	53877780	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	46420845	53877780	79974115	75	689											
PAWR	5074	broad.mit.edu	37	chr12	79990331	79990331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttccagtgtgctacttGaaaccagagtacctgaaaca	7	10	1	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:79990331G>A	ENST00000328827.4	-	5	1163	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	264					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTGCTACTTGAAACCAGAGT	0.323																																						ENST00000328827.4																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(790-792)tCa>tTa		PRKC, apoptosis, WT1, regulator							104	103	103					12																	79990331		2203	4300	6503	SO:0001583	missense	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79990331G>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.791C>T	12.37:g.79990331G>A	ENSP00000328088:p.Ser264Leu						p.S264L	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN			5	1163	-			264					O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.791C>T	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732142	0.48939	.	.	ENSG00000177425	ENST00000328827	T	0.17370	2.28	5.21	5.21	0.72293	.	0.977772	0.08368	N	0.956530	T	0.17450	0.0419	L	0.29908	0.895	0.32789	N	0.501387	P	0.36535	0.557	B	0.39258	0.295	T	0.07481	-1.0770	9	.	.	.	-0.0939	13.6695	0.62416	0.0:0.0:0.8453:0.1547	.	264	Q96IZ0	PAWR_HUMAN	L	264	ENSP00000328088:S264L	.	S	-	2	0	PAWR	78514462	1.000000	0.71417	0.985000	0.45067	0.148000	0.21650	4.049000	0.57397	2.601000	0.87937	0.585000	0.79938	TCA		0.323	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		47	259	0	0	0	1	0	47	259					A	79990331	G	A	79990331	3	1	6	1	0	0	0	0	1	0	0	0	11519	1294	45	2	243	2	PAWR	12	79990331	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	26112551	79990331	53861564	76	690											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	11	11	0	1	rs371327441		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R604C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1810-1812)Cgc>Tgc		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	165	150	155		1810	4.5	1	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	604/959	88329453	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329453C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1810C>T	13.37:g.88329453C>T	ENSP00000366283:p.Arg604Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	p.R604C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2029	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		604			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1810C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011439	0.54468	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61158	0.13;0.49	5.47	4.54	0.55810	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.81450	-0.0927	9	.	.	.	-15.1954	14.535	0.67953	0.1566:0.8434:0.0:0.0	.	363;604	B4DSH5;O94991	.;SLIK5_HUMAN	C	604;363	ENSP00000366283:R604C;ENSP00000442244:R363C	.	R	+	1	0	SLITRK5	87127454	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.167000	0.50793	2.554000	0.86153	0.555000	0.69702	CGC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			6	847	0	0	0	1	0	6	847					T	88329453	C	T	88329453	3	4	6	1	0	0	0	0	1	0	0	0	14796	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		88329453	26840425	77	691											
CUL4A	8451	broad.mit.edu	37	chr13	113907464	113907464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcgaaaacttcagtgGcaaactactttgggacatgc	11	8	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:113907464G>A	ENST00000375440.4	+	16	1791	c.1707G>A	c.(1705-1707)tgG>tgA	p.W569*	CUL4A_ENST00000326335.4_Nonsense_Mutation_p.W469*|CUL4A_ENST00000375441.3_Nonsense_Mutation_p.W469*|CUL4A_ENST00000451881.1_Nonsense_Mutation_p.W469*	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	569					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACTTCAGTGGCAAACTACTT	0.299																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1405-1407)tgG>tgA		cullin 4A							110	109	109					13																	113907464		2203	4300	6503	SO:0001587	stop_gained	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113907464G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1707G>A	13.37:g.113907464G>A	ENSP00000364589:p.Trp569*					CUL4A_ENST00000375441.3_Nonsense_Mutation_p.W469*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.W469*|CUL4A_ENST00000375440.4_Nonsense_Mutation_p.W569*	p.W469*	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		16	1656	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	569					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Nonsense_Mutation	SNP	ENST00000375440.4	37	c.1407G>A	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	43	10.181276	0.99353	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	.	.	.	5.16	5.16	0.70880	.	0.165679	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2599	19.0113	0.92874	0.0:0.0:1.0:0.0	.	.	.	.	X	469;469;469;569	.	ENSP00000322132:W469X	W	+	3	0	CUL4A	112955465	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.632000	0.98428	2.566000	0.86566	0.484000	0.47621	TGG		0.299	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		5	376	0	0	0	1	0	5	376					A	113907464	G	A	113907464	4	1	6	1	0	0	0	0	0	1	0	0	4068	1212	42	2	1769	2	CUL4A	13	113907464	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	25578011	113907464	1262414	78	692											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		10	746						10	746	---	---	---	---	-	34393993	AGC	-	34393991	7	5	6	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AABA-01A-21D-A40W-08		34393991	68137401	79	693											
PARP6	56965	broad.mit.edu	37	chr15	72557486	72557486	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaataggttctgtccggagGaccttccaggctgtagagac	12	10	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr15:72557486G>A	ENST00000569795.1	-	7	951	c.264C>T	c.(262-264)gtC>gtT	p.V88V	PARP6_ENST00000260376.7_Silent_p.V88V|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.V88V			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	88							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTGTCCGGAGGACCTTCCAGG	0.473																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(262-264)gtC>gtT		poly (ADP-ribose) polymerase family, member 6							53	54	53					15																	72557486		1909	4133	6042	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72557486G>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.264C>T	15.37:g.72557486G>A						PARP6_ENST00000260376.7_Silent_p.V88V|PARP6_ENST00000287196.9_Silent_p.V88V|PARP6_ENST00000413097.2_5'UTR	p.V88V			Q2NL67	PARP6_HUMAN			7	951	-			88					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.264C>T	CCDS10241.2																																																																																				0.473	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		6	115	0	0	0	1	0	6	115					A	72557486	G	A	72557486	2	1	6	1	0	0	0	0	0	0	0	1	11506	1161	41	2		2	PARP6	15	72557486	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	38163495	72557486	29973906	80	694											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	341						9	341	---	---	---	---	-	30982811	TCC	-	30982809	7	5	6	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-2J-AABA-01A-21D-A40W-08		30982809	59371944	81	695											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53726216	53726216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccagccgcttggggccGccaccaacccgctcatatct	9	19	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr16:53726216G>A	ENST00000379925.3	-	4	341	c.291C>T	c.(289-291)ggC>ggT	p.G97G	RPGRIP1L_ENST00000563746.1_Silent_p.G97G|RPGRIP1L_ENST00000564374.1_Silent_p.G97G|RPGRIP1L_ENST00000262135.4_Silent_p.G97G	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	97					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTTGGGGCCGCCACCAACCC	0.423																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(289-291)ggC>ggT		RPGRIP1-like							132	152	146					16																	53726216		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53726216G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.291C>T	16.37:g.53726216G>A						RPGRIP1L_ENST00000379925.3_Silent_p.G97G|RPGRIP1L_ENST00000563746.1_Silent_p.G97G|RPGRIP1L_ENST00000564374.1_Silent_p.G97G	p.G97G	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			4	384	-		all_cancers(37;0.0973)	97					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.291C>T	CCDS32447.1																																																																																				0.423	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		7	844	0	0	0	1	0	7	844					A	53726216	G	A	53726216	2	1	6	1	0	0	0	0	0	0	0	1	13600	1074	38	1		1	RPGRIP1L	16	53726216	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	22743407	53726216	36628537	82	696											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg					rs557733194	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000299734.7_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		7	505						7	505	---	---	---	---	-	8370273	CTC	-	8370271	7	5	6	1	0	1	0	1	0	0	0	0	10286	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-2J-AABA-01A-21D-A40W-08		8370271	72824939	83	697											
UBB	7314	broad.mit.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000302182.3_Silent_p.Q107Q|UBB_ENST00000395839.1_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.Q107Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(319-321)caG>caA		ubiquitin B							114	110	112					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285542G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A						UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.Q107Q|UBB_ENST00000395839.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	p.Q107Q	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	713	+			107			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.321G>A	CCDS11177.1																																																																																				0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	422	0	0	0	1	0	5	422					A	16285542	G	A	16285542	2	1	6	1	0	0	0	0	0	0	0	1	16895	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	7915271	16285542	64909668	84	698											
NF1	4763	broad.mit.edu	37	chr17	29559101	29559101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcagagatttggacCaggcaagcatggaagcagta	11	6	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:29559101C>T	ENST00000358273.4	+	25	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1070					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3208-3210)Cag>Tag		neurofibromin 1							32	30	31					17																	29559101		2203	4297	6500	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29559101C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3208C>T	17.37:g.29559101C>T	ENSP00000351015:p.Gln1070*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	25	3591	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1070					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.3208C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	46	12.239175	0.99649	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.0592	0.93080	0.0:1.0:0.0:0.0	.	.	.	.	X	1070;1070;736	.	ENSP00000348498:Q1070X	Q	+	1	0	NF1	26583227	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.402000	0.79972	2.499000	0.84300	0.484000	0.47621	CAG		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		11	51	0	0	0	1	0	11	51					T	29559101	C	T	29559101	4	4	6	1	0	0	0	0	0	1	0	0	10398	595	21	2	3367	2	NF1	17	29559101	Nonsense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	13273559	29559101	51636109	85	699											
SMAD4	4089	broad.mit.edu	37	chr18	48604705	48604705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagttttgtgaaaggctgGggaccggattacccaagaca	13	7	0	3	rs377767370		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr18:48604705G>A	ENST00000342988.3	+	12	2065	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.W413*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.W509*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W509*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGAAAGGCTGGGGACCGGATT	0.473																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.W509*(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM086965	SMAD4	M		c.(1525-1527)tgG>tgA		SMAD family member 4							113	102	106					18																	48604705		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604705G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1527G>A	18.37:g.48604705G>A	ENSP00000341551:p.Trp509*					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.W509*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.W413*	p.W509*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2065	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	509			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1527G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.263344	0.99118	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	X	509	.	ENSP00000341551:W509X	W	+	3	0	SMAD4	46858703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.586000	0.98226	2.890000	0.99128	0.655000	0.94253	TGG		0.473	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		56	249	0	0	0	1	0	56	249					A	48604705	G	A	48604705	4	1	6	1	0	0	0	0	0	1	0	0	14810	1241	43	2	1569	2	SMAD4	18	48604705	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		48604705	29472543	86	700											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			9	778						9	778	---	---	---	---	-	55992286	TCC	-	55992284	7	5	6	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-2J-AABA-01A-21D-A40W-08	7387579	55992284	22084964	87	701											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C													cggtctgggccccttaggggINScacgccgggccgccaagcca							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)gcafs	p.A898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.A732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCCTTAGGGGCACGCCGGGCC	0.693																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2692-2694)acgfs		zinc finger, SWIM-type containing 4																																				SO:0001589	frameshift_variant	65249						zinc ion binding	g.chr19:13941586_13941587insC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2693dupC	19.37:g.13941587_13941587dupC	ENSP00000254323:p.Ala898fs					ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	p.T898fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2881_2882	+			898						Frame_Shift_Ins	INS	ENST00000254323.2	37	c.2692_2693insC	CCDS32924.1																																																																																				0.693	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		11	319						11	319	---	---	---	---	C	13941587	-	C	13941586	7	5	6	1	0	1	1	0	0	0	0	0	18296	1203	42	0	2742	0	ZSWIM4	19	13941586	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08		13941586	45187397	88	702											
ZNF493	284443	broad.mit.edu	37	chr19	21607078	21607078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatacataaaatgattcaCactggagaaaaaccctacaa	4	9	1	2	rs145361856	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:21607078C>T	ENST00000355504.4	+	2	1499	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.H539H	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	411					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAATGATTCACACTGGAGAAA	0.353													.|||	2	0.000399361	0.0	0.0	5008	,	,		19524	0.0		0.001	False		,,,				2504	0.001					ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1615-1617)caC>caT		zinc finger protein 493							42	45	44					19																	21607078		2203	4298	6501	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607078C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1233C>T	19.37:g.21607078C>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.H411H	p.H539H	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1726	+			411					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1617C>T	CCDS12412.1																																																																																				0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	247	0	0	0	1	0	5	247					T	21607078	C	T	21607078	2	4	6	1	0	0	0	0	0	0	0	1	17997	477	17	2		2	ZNF493	19	21607078	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	7665492	21607078	37521905	89	703			1	1		3	3	246	N	T_C_A	3.307158e-07
ZNF493	284443	broad.mit.edu	37	chr19	21607126	21607126	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcaaagcttttaaTcggtcctcacaccttactac	7	11	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:21607126T>G	ENST00000355504.4	+	2	1547	c.1281T>G	c.(1279-1281)aaT>aaG	p.N427K	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.N555K	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGCTTTTAATCGGTCCTCAC	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1663-1665)aaT>aaG		zinc finger protein 493							45	46	45					19																	21607126		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607126T>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1281T>G	19.37:g.21607126T>G	ENSP00000347691:p.Asn427Lys					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.N427K	p.N555K	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1774	+			427					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1665T>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.852024	0.00563	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.38077	1.16;1.16	0.427	-0.854	0.10705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16342	0.0393	N	0.05441	-0.05	0.09310	N	1	B;B	0.33022	0.112;0.394	B;B	0.32928	0.155;0.12	T	0.11717	-1.0576	9	0.48119	T	0.1	.	4.0939	0.09982	0.1684:0.4514:0.0:0.3802	.	427;555	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	K	555;427	ENSP00000376110:N555K;ENSP00000347691:N427K	ENSP00000347691:N427K	N	+	3	2	ZNF493	21398966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.404000	0.00482	-3.021000	0.00269	-3.036000	0.00072	AAT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	254	0	0	0	1	0	6	254					G	21607126	T	G	21607126	3	3	6	1	0	0	0	0	1	0	0	0	17997	1432	50	4	1742	4	ZNF493	19	21607126	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	48	21607126	37521857	90	704			1	1		3	3	246	N	T_C_A	3.307158e-07
ZNF493	284443	broad.mit.edu	37	chr19	21607323	21607323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatccttagtatacataagaAaattcatactggagaaaaac	5	6	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:21607323A>T	ENST00000355504.4	+	2	1744	c.1478A>T	c.(1477-1479)aAa>aTa	p.K493I	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K621I	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	493					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATACATAAGAAAATTCATACT	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1861-1863)aAa>aTa		zinc finger protein 493																																				SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607323A>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1478A>T	19.37:g.21607323A>T	ENSP00000347691:p.Lys493Ile					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K493I	p.K621I	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1971	+			493					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1862A>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.959551	0.00465	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.24151	1.87;1.87	0.994	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.43701	1.375	0.24790	N	0.992765	B;D	0.53151	0.024;0.958	B;P	0.47981	0.019;0.563	T	0.31110	-0.9955	9	0.51188	T	0.08	.	0.9986	0.01473	0.2847:0.2901:0.278:0.1472	.	493;621	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	621;493	ENSP00000376110:K621I;ENSP00000347691:K493I	ENSP00000347691:K493I	K	+	2	0	ZNF493	21399163	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.006000	0.12833	-4.003000	0.00082	-4.155000	0.00010	AAA		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		15	220	0	0	0	1	0	15	220					T	21607323	A	T	21607323	3	4	6	1	0	0	0	0	1	0	0	0	17997	14	1	5	1939	5	ZNF493	19	21607323	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	197	21607323	37521660	91	705			1	1		3	3	246	N	T_C_A	3.307158e-07
ZNF43	7594	broad.mit.edu	37	chr19	22002025	22002026	+	Splice_Site	INS	-	-	A													cataaatgtcaatggtccctINSaaaaaaaacaacacatacac							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						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.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	7	497						7	497	---	---	---	---	A	22002026	-	A	22002025	8	5	6	1	0	1	1	0	0	0	1	0	17956	1536	53	0	2439	0	ZNF43	19	22002025	Splice_Site	INS	-	TCGA-2J-AABA-01A-21D-A40W-08	394702	22002025	37126958	92	706											
PSMD8	5714	broad.mit.edu	37	chr19	38874009	38874009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcatcgagtatgcccgGcagctggagatgatcgtctg	14	10	2	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:38874009G>A	ENST00000215071.4	+	7	1098	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'Flank|PSMD8_ENST00000602911.1_Silent_p.R281R	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTATGCCCGGCAGCTGGAGA	0.562																																						ENST00000215071.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(1030-1032)cgG>cgA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 8							48	40	43					19																	38874009		2203	4300	6503	SO:0001819	synonymous_variant	5714				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding	g.chr19:38874009G>A	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"Proteasome (prosome, macropain) subunits"	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.1032G>A	19.37:g.38874009G>A						PSMD8_ENST00000602911.1_Silent_p.R281R	p.R344R	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	1098	+	all_cancers(60;3.4e-06)		344					B4DX18|Q6P1L7	Silent	SNP	ENST00000215071.4	37	c.1032G>A	CCDS12515.2																																																																																				0.562	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		4	146	0	0	0	1	0	4	146					A	38874009	G	A	38874009	2	1	6	1	0	0	0	0	0	0	0	1	12751	1190	42	2		2	PSMD8	19	38874009	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	16871984	38874009	20254974	93	707											
PSG7	5676	broad.mit.edu	37	chr19	43430101	43430101	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcaaagcaggacaagtagagg	17	7	0	2	rs200190947		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	VAL/ALA,VAL/ALA	1,4401		0,1,2200	162	171	168		701,1067	0.2	0	19		168	3,8597		0,3,4297	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	64,64	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	234/298,356/420	43430101	4,12998	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430101G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430101G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1163	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		8	930	0	0	0	1	0	8	930					A	43430101	G	A	43430101	1	1	6	0	1	0	0	0	0	0	0	0	12707	1087	38	1		1	PSG7	19	43430101	RNA	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4556092	43430101	15698882	94	708											
CEACAM20	125931	broad.mit.edu	37	chr19	45017226	45017231	+	RNA	DEL	GTTACC	GTTACC	-													ccccctccctgtatccctgtGttaccgtctggcatttctga							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:45017226_45017231delGTTACC	ENST00000454753.1	-	0	1705_1706							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTATCCCTGTGTTACCGTCTGGCATT	0.587											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20																																						125931					integral to membrane		g.chr19:45017226_45017231delGTTACC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017226_45017231delGTTACC			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928					Q6UY09	CEA20_HUMAN			0	1705_1706	-		Prostate(69;0.0352)							RNA	DEL	ENST00000454753.1	37																																																																																						0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		19	82						19	82	---	---	---	---	-	45017231	GTTACC	-	45017226	6	5	6	0	1	1	0	1	0	0	0	0	3200	1392	48	0		0	CEACAM20	19	45017226	RNA	DEL	GTTACC	TCGA-2J-AABA-01A-21D-A40W-08	1587125	45017226	14111757	95	709											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccacggtctgtccccAccgggtccagctcagcctgg	14	17	2	0	rs201935510	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31	37	35					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	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.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	319	0	0	0	1	0	5	319					C	50462047	A	C	50462047	3	2	6	1	0	0	0	0	1	0	0	0	14357	159	6	4	900	4	SIGLEC11	19	50462047	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	5444821	50462047	8666936	96	710											
ZNF28	7576	broad.mit.edu	37	chr19	53304471	53304471	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagatttttctctcatGtgtacattccgtttttgtgt	8	6	2	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:53304471G>C	ENST00000457749.2	-	4	746	c.627C>G	c.(625-627)caC>caG	p.H209Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.H156Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.H156Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.H156Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCATGTGTACATTCC	0.333																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(466-468)caC>caG		zinc finger protein 28							127	134	132					19																	53304471		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304471G>C	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.627C>G	19.37:g.53304471G>C	ENSP00000397693:p.His209Gln					ZNF28_ENST00000457749.2_Missense_Mutation_p.H209Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.H156Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.H156Q	p.H156Q			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1361	-			209					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.468C>G	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	8.679	0.904585	0.17760	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	1.47	0.307	0.15811	.	.	.	.	.	T	0.65863	0.2732	M	0.93720	3.45	0.09310	N	1	P	0.50156	0.932	D	0.63703	0.917	T	0.54629	-0.8265	9	0.87932	D	0	.	5.3957	0.16268	0.2136:0.0:0.7864:0.0	.	209	P17035	ZNF28_HUMAN	Q	156;209;156;156;156	ENSP00000412143:H156Q;ENSP00000397693:H209Q;ENSP00000353410:H156Q;ENSP00000444965:H156Q;ENSP00000375661:H156Q	ENSP00000353410:H156Q	H	-	3	2	ZNF28	57996283	0.009000	0.17119	0.001000	0.08648	0.036000	0.12997	0.142000	0.16096	-0.050000	0.13356	0.186000	0.17326	CAC		0.333	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		79	581	0	0	0	1	0	79	581					C	53304471	G	C	53304471	3	2	6	1	0	0	0	0	1	0	0	0	17866	1368	48	5	1533	5	ZNF28	19	53304471	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	2842424	53304471	5824512	97	711											
DSTN	11034	broad.mit.edu	37	chr20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T													gaaaagaaagaaggctgtcaINSttttttgtctcagtgcagac							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(109-111)tttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581488_17581489insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs					DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR	p.F37fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	455_456	+			37			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.109_110insT	CCDS13127.1																																																																																				0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		15	379						15	379	---	---	---	---	T	17581489	-	T	17581488	7	5	6	1	0	1	1	0	0	0	0	0	4800	217	8	0	115	0	DSTN	20	17581488	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08		17581488	45444032	98	712											
PMEPA1	56937	broad.mit.edu	37	chr20	56227291	56227309	+	Frame_Shift_Del	DEL	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	-													ctcgctgtaggtgggcggcgGcccctccatgcgcccgccgc					rs561316732|rs551031813		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr20:56227291_56227309delGCCCCTCCATGCGCCCGCC	ENST00000341744.3	-	4	983_1001	c.664_682delGGCGGGCGCATGGAGGGGC	c.(664-684)ggcgggcgcatggaggggccgfs	p.GGRMEGP222fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.GGRMEGP187fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	222					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTGGGCGGCGGCCCCTCCATGCGCCCGCCGCTGCCGTAG	0.694																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(664-684)cgfs		prostate transmembrane protein, androgen induced 1																																				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227291_56227309delGCCCCTCCATGCGCCCGCC	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.664_682delGGCGGGCGCATGGAGGGGC	20.37:g.56227291_56227309delGCCCCTCCATGCGCCCGCC	ENSP00000345826:p.Gly222fs					PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.GGRMEGP187fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.GGRMEGP172fs	p.GGRMEGP222fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	983_1001	-			222					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	37	c.664_682delGGCGGGCGCATGGAGGGGC	CCDS13463.1																																																																																				0.694	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		12	87						12	87	---	---	---	---	-	56227309	GCCCCTCCATGCGCCCGCC	-	56227291	7	5	6	1	0	1	0	1	0	0	0	0	12174	1203	42	0	185	0	PMEPA1	20	56227291	Frame_Shift_Del	DEL	GCCCCTCCATGCGCCCGCC	TCGA-2J-AABA-01A-21D-A40W-08	38645803	56227291	6798229	99	713											
SGSM1	129049	broad.mit.edu	37	chr22	25264736	25264736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagccctcagggttctgCcgagtccacatcttcagaca	10	14	4	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr22:25264736C>T	ENST00000400359.4	+	12	1212	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	SGSM1_ENST00000400358.4_Missense_Mutation_p.A402V	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	402						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGGTTCTGCCGAGTCCACA	0.512																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1204-1206)gCc>gTc		small G protein signaling modulator 1							116	112	113					22																	25264736		1955	4166	6121	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25264736C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1205C>T	22.37:g.25264736C>T	ENSP00000383212:p.Ala402Val					SGSM1_ENST00000400359.4_Missense_Mutation_p.A402V	p.A402V	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			12	1262	+			402					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.1205C>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.275275	0.01410	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.31510	1.49;1.49	4.97	2.9	0.33743	.	1.043230	0.07422	N	0.894208	T	0.08935	0.0221	N	0.01729	-0.75	0.09310	N	1	B;B;P;B	0.39665	0.05;0.102;0.682;0.007	B;B;B;B	0.30572	0.017;0.047;0.117;0.011	T	0.07385	-1.0775	10	0.08179	T	0.78	-10.6163	5.5656	0.17168	0.1576:0.6761:0.0:0.1663	.	402;518;535;402	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	V	518;402;402	ENSP00000383211:A402V;ENSP00000383212:A402V	ENSP00000383211:A402V	A	+	2	0	SGSM1	23594736	0.054000	0.20591	0.004000	0.12327	0.018000	0.09664	3.246000	0.51414	0.644000	0.30656	-0.218000	0.12543	GCC		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		6	474	0	0	0	1	0	6	474					T	25264736	C	T	25264736	3	4	6	1	0	0	0	0	1	0	0	0	14272	739	26	2	1251	2	SGSM1	22	25264736	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		25264736	26039830	100	714											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		9	389						9	389	---	---	---	---	-	37312611	C	-	37312611	7	5	6	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-2J-AABA-01A-21D-A40W-08		37312611	117957949	101	715											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	95						7	95	---	---	---	---	-	72433666	TCC	-	72433664	7	5	6	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-2J-AABA-01A-21D-A40W-08	35121053	72433664	82836896	102	716											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		12	781						12	781	---	---	---	---	C	107977803	-	C	107977802	7	5	6	1	0	1	1	0	0	0	0	0	7872	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-2J-AABA-01A-21D-A40W-08	35544138	107977802	47292758	103	717											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	251						7	251	---	---	---	---	-	149639635	GCA	-	149639633	7	5	6	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2J-AABA-01A-21D-A40W-08	41661831	149639633	5630927	104	718											
MED18	54797	broad.mit.edu	37	chr1	28661125	28661125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgctacctgggacagCcagaaatgggagacaagaac	12	10	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:28661125C>T	ENST00000373842.4	+	3	480	c.271C>T	c.(271-273)Cca>Tca	p.P91S	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.P91S	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	91						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGACAGCCAGAAATGGG	0.582																																						ENST00000373842.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(271-273)Cca>Tca		mediator complex subunit 18							120	132	128					1																	28661125		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28661125C>T	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.271C>T	1.37:g.28661125C>T	ENSP00000362948:p.Pro91Ser					MED18_ENST00000398997.2_Missense_Mutation_p.P91S|MED18_ENST00000479574.1_3'UTR	p.P91S	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	3	480	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	91					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.271C>T	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345319	0.61073	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	5.75	0.90469	Mediator complex, subunit Med18, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	L	0.52126	1.63	0.33548	D	0.595697	B	0.14012	0.009	B	0.11329	0.006	T	0.56601	-0.7952	9	0.19147	T	0.46	-9.4996	17.4171	0.87504	0.0:1.0:0.0:0.0	.	91	Q9BUE0	MED18_HUMAN	S	91	.	ENSP00000362948:P91S	P	+	1	0	MED18	28533712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	2.728000	0.93425	0.655000	0.94253	CCA		0.582	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		120	506	0	0	0	1	0	120	506					T	28661125	C	T	28661125	3	4	7	1	0	0	0	0	1	0	0	0	9477	739	26	2	277	2	MED18	1	28661125	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		28661125	220589496	1	719											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		7	654						7	654	---	---	---	---	-	38166151	GAA	-	38166149	7	5	7	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-2J-AABE-01A-12D-A40W-08	9505024	38166149	211084472	2	720											
INPP5B	3633	broad.mit.edu	37	chr1	38354008	38354008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttacattgtatgttcccGcaaaaaacctgtcaccaaag	5	11	1	0	rs201051953		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:38354008G>A	ENST00000373026.1	-	9	1046	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373023.2_Missense_Mutation_p.A349V|INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	349	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTTCCCGCAAAAAACCT	0.458																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1045-1047)gCg>gTg		inositol polyphosphate-5-phosphatase, 75kDa		A	VAL/ALA	0,3766		0,0,1883	70	72	71		806	5.8	1	1		71	1,8221		0,1,4110	yes	missense	INPP5B	NM_005540.2	64	0,1,5993	AA,AG,GG		0.0122,0.0,0.0083	benign	269/914	38354008	1,11987	1883	4111	5994	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38354008G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1046C>T	1.37:g.38354008G>A	ENSP00000362117:p.Ala349Val					INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V|INPP5B_ENST00000373026.1_Missense_Mutation_p.A349V	p.A349V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			10	1139	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	349					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.1046C>T		.	.	.	.	.	.	.	.	.	.	A	10.30	1.311269	0.23821	0.0	1.22E-4	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.85	5.85	0.93711	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.062810	0.64402	N	0.000007	T	0.66607	0.2806	N	0.00082	-2.215	0.20975	N	0.999815	B;B	0.12013	0.002;0.005	B;B	0.01281	0.0;0.0	T	0.60332	-0.7284	10	0.02654	T	1	.	12.0299	0.53392	0.9329:0.0:0.0671:0.0	.	349;269	P32019;P32019-2	I5P2_HUMAN;.	V	105;349;349;349;269;32	ENSP00000362118:A105V;ENSP00000362114:A349V;ENSP00000362117:A349V;ENSP00000362115:A269V;ENSP00000397748:A32V	ENSP00000362114:A349V	A	-	2	0	INPP5B	38126595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.160000	0.77495	1.035000	0.39972	-0.254000	0.11334	GCG		0.458	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		5	258	0	0	0	1	0	5	258					A	38354008	G	A	38354008	3	1	7	1	0	0	0	0	1	0	0	0	7785	1087	38	1	1995	1	INPP5B	1	38354008	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	187859	38354008	210896613	3	721											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		9	316						9	316	---	---	---	---	-	46184898	AC	-	46184897	7	5	7	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-2J-AABE-01A-12D-A40W-08	7830889	46184897	203065724	4	722											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281517	145281517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaatgagtgtgacatTccaggacactgccagcatgg	12	9	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:145281517T>C	ENST00000369340.3	+	5	891	c.447T>C	c.(445-447)atT>atC	p.I149I	NOTCH2NL_ENST00000344859.3_Silent_p.I149I|NOTCH2NL_ENST00000362074.6_Silent_p.I149I|RP11-458D21.5_ENST00000468030.1_Silent_p.I149I			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	149	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGTGACATTCCAGGACACT	0.552																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(445-447)atT>atC		notch 2 N-terminal like							237	232	234					1																	145281517		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281517T>C		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.447T>C	1.37:g.145281517T>C						NOTCH2NL_ENST00000344859.3_Silent_p.I149I|NOTCH2NL_ENST00000362074.6_Silent_p.I149I|RP11-458D21.5_ENST00000468030.1_Silent_p.I149I	p.I149I			Q7Z3S9	NT2NL_HUMAN			5	891	+			149			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.447T>C	CCDS909.1																																																																																				0.552	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		87	1220	0	0	0	1	0	87	1220					C	145281517	T	C	145281517	2	2	7	1	0	0	0	0	0	0	0	1	10591	1771	62	4		4	NOTCH2NL	1	145281517	Silent	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	99096620	145281517	103969104	5	723											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	37	0	0	0	1	0	6	37					G	156777073	T	G	156777073	3	3	7	1	0	0	0	0	1	0	0	0	14282	1696	59	4	106	4	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	11495556	156777073	92473548	6	724											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		12	547						12	547	---	---	---	---	A	183515267	-	A	183515266	7	5	7	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	26738193	183515266	65735355	7	725											
CENPF	1063	broad.mit.edu	37	chr1	214832306	214832306	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttagcgctatccccactgAgtctcggcaaagaaaatctt	8	11	2	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:214832306A>T	ENST00000366955.3	+	19	9244	c.9076A>T	c.(9076-9078)Agt>Tgt	p.S3026C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3122	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCCCCACTGAGTCTCGGCAA	0.517											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(9076-9078)Agt>Tgt		centromere protein F, 350/400kDa							102	103	103					1																	214832306		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214832306A>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9076A>T	1.37:g.214832306A>T	ENSP00000355922:p.Ser3026Cys		OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2224		p.S3026C	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	19	9244	+			3122			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.9076A>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	9.358	1.067311	0.20067	.	.	ENSG00000117724	ENST00000366955	T	0.03553	3.89	5.63	1.72	0.24424	.	0.578740	0.14474	N	0.317357	T	0.03178	0.0093	L	0.39633	1.23	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.42224	-0.9464	10	0.87932	D	0	.	1.4268	0.02324	0.5106:0.1236:0.1263:0.2395	.	3122	P49454	CENPF_HUMAN	C	3026	ENSP00000355922:S3026C	ENSP00000355922:S3026C	S	+	1	0	CENPF	212898929	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	0.552000	0.23376	0.931000	0.37242	0.533000	0.62120	AGT		0.517	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		15	485	0	0	0	1	0	15	485					T	214832306	A	T	214832306	3	4	7	1	0	0	0	0	1	0	0	0	3240	304	11	5	9146	5	CENPF	1	214832306	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	31317040	214832306	34418315	8	726											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		6	833	0	0	0	1	0	6	833					T	223176649	C	T	223176649	3	4	7	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	8344343	223176649	26073972	9	727											
AKT3	10000	broad.mit.edu	37	chr1	243778456	243778456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagttagagtgtgtgccActtcatcctacaaaagaaaa	7	8	2	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:243778456A>G	ENST00000366539.1	-	7	769	c.569T>C	c.(568-570)gTg>gCg	p.V190A	AKT3_ENST00000366540.1_Missense_Mutation_p.V190A|AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A|AKT3_ENST00000492957.1_5'Flank			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTGTGTGCCACTTCATCCTA	0.328																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(568-570)gTg>gCg		v-akt murine thymoma viral oncogene homolog 3							125	120	121					1																	243778456		2201	4299	6500	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243778456A>G	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.569T>C	1.37:g.243778456A>G	ENSP00000355497:p.Val190Ala					AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A|AKT3_ENST00000366540.1_Missense_Mutation_p.V190A	p.V190A			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		7	769	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	190			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.569T>C	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450253	0.84101	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.58	5.58	0.84498	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	0.68054	0.2959	L	0.37850	1.14	0.80722	D	1	P;P	0.49358	0.862;0.923	P;P	0.59889	0.593;0.865	T	0.69491	-0.5131	10	0.52906	T	0.07	.	13.9981	0.64414	1.0:0.0:0.0:0.0	.	190;190	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	A	190	ENSP00000336943:V190A;ENSP00000355498:V190A;ENSP00000355497:V190A;ENSP00000263826:V190A	ENSP00000263826:V190A	V	-	2	0	AKT3	241845079	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.054000	0.71096	2.122000	0.65172	0.459000	0.35465	GTG		0.328	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		11	255	0	0	0	1	0	11	255					G	243778456	A	G	243778456	3	3	7	1	0	0	0	0	1	0	0	0	481	159	6	4	950	4	AKT3	1	243778456	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	20601807	243778456	5472165	10	728											
NT5C1B	93034	broad.mit.edu	37	chr2	18767583	18767583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggtggatgggctccgGgatattctagaccattgact	13	9	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:18767583G>A	ENST00000359846.2	-	4	452	c.375C>T	c.(373-375)tcC>tcT	p.S125S	NT5C1B_ENST00000460052.1_5'UTR|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.S65S|NT5C1B_ENST00000600945.1_Silent_p.S125S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S125S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	125	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATGGGCTCCGGGATATTCTAG	0.488																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(193-195)tcC>tcT		5'-nucleotidase, cytosolic IB							156	140	146					2																	18767583		2203	4300	6503	SO:0001819	synonymous_variant	93034							g.chr2:18767583G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.375C>T	2.37:g.18767583G>A						NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.S125S|NT5C1B_ENST00000600945.1_Silent_p.S125S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S125S	p.S65S	NM_033253.3	NP_150278.2					3	295	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.195C>T	CCDS33150.1																																																																																				0.488	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			5	368	0	0	0	1	0	5	368					A	18767583	G	A	18767583	2	1	7	1	0	0	0	0	0	0	0	1	10728	1219	43	2		2	NT5C1B	2	18767583	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		18767583	224431790	11	729											
SMYD5	10322	broad.mit.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-													cctcagaagaggaagaggaaGaggaggaggaggaggaagga							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		7	360						7	360	---	---	---	---	-	73453011	GAG	-	73453009	7	5	7	1	0	1	0	1	0	0	0	0	14875	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-2J-AABE-01A-12D-A40W-08	54685426	73453009	169746364	12	730											
SEMA4C	54910	broad.mit.edu	37	chr2	97527143	97527143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagaggtggcagggcagCaccaggtctgtgcccgccac	17	12	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97527143C>T	ENST00000305476.5	-	15	1854	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	574	Ig-like C2-type.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGCAGGGCAGCACCAGGTCTG	0.627																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1720-1722)gtG>gtA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							20	25	23					2																	97527143		2203	4298	6501	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527143C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1722G>A	2.37:g.97527143C>T							p.V574V	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			15	1854	-			574			Ig-like C2-type.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.1722G>A	CCDS2029.1																																																																																				0.627	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		25	174	0	0	0	1	0	25	174					T	97527143	C	T	97527143	2	4	7	1	0	0	0	0	0	0	0	1	14083	697	25	2		2	SEMA4C	2	97527143	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	24074134	97527143	145672230	13	731											
LCT	3938	broad.mit.edu	37	chr2	136567449	136567449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgacttgctgctgtcgCtgaagttgacgtggtgcagg	14	9	0	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:136567449C>T	ENST00000264162.2	-	8	2478	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	823	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTGCTGTCGCTGAAGTTGAC	0.502																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2467-2469)aGc>aAc		lactase							122	122	122					2																	136567449		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567449C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2468G>A	2.37:g.136567449C>T	ENSP00000264162:p.Ser823Asn						p.S823N	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2478	-			823			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2468G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.319345	0.01320	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	6.03	-6.67	0.01783	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.930568	0.09260	N	0.826760	T	0.10337	0.0253	N	0.00894	-1.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.02654	T	1	-7.8485	2.3501	0.04281	0.1009:0.2986:0.2085:0.3921	.	823	P09848	LPH_HUMAN	N	823;255	ENSP00000264162:S823N	ENSP00000264162:S823N	S	-	2	0	LCT	136283919	0.000000	0.05858	0.002000	0.10522	0.411000	0.31082	-0.207000	0.09384	-0.575000	0.05982	-1.193000	0.01689	AGC		0.502	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		24	649	0	0	0	1	0	24	649					T	136567449	C	T	136567449	3	4	7	1	0	0	0	0	1	0	0	0	8724	797	28	2	3355	2	LCT	2	136567449	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	39040306	136567449	106631924	14	732											
LRP2	4036	broad.mit.edu	37	chr2	170090020	170090020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgccacttgttggctcGcataacccgacgagtagcac	9	14	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:170090020G>A	ENST00000263816.3	-	30	5284	c.4999C>T	c.(4999-5001)Cga>Tga	p.R1667*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1667					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTGTTGGCTCGCATAACCCGA	0.478																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4999-5001)Cga>Tga		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						90	83	85					2																	170090020		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170090020G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4999C>T	2.37:g.170090020G>A	ENSP00000263816:p.Arg1667*						p.R1667*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5284	-			1667					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.4999C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	47	13.467371	0.99744	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.16	0.847	0.18961	.	0.384514	0.29616	N	0.011646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0576	0.53544	0.0:0.0988:0.3154:0.5858	.	.	.	.	X	1667	.	ENSP00000263816:R1667X	R	-	1	2	LRP2	169798266	0.996000	0.38824	0.014000	0.15608	0.580000	0.36256	2.168000	0.42424	-0.057000	0.13199	0.557000	0.71058	CGA		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	323	0	0	0	1	0	5	323					A	170090020	G	A	170090020	4	1	7	1	0	0	0	0	0	1	0	0	8994	1095	38	1	9168	1	LRP2	2	170090020	Nonsense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	33522571	170090020	73109353	15	733											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		7	403						7	403	---	---	---	---	-	202352352	T	-	202352352	7	5	7	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-2J-AABE-01A-12D-A40W-08	32262332	202352352	40847021	16	734											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct					rs557843124	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				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)			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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		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.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del	p.RK307del			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)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.65	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		7	358						7	358	---	---	---	---	-	220496801	GAA	-	220496799	7	5	7	1	0	1	0	1	0	0	0	0	14705	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-2J-AABE-01A-12D-A40W-08	18144447	220496799	22702574	17	735											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	354						10	354	---	---	---	---	-	227660810	GCT	-	227660808	7	5	7	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-2J-AABE-01A-12D-A40W-08	7164009	227660808	15538565	18	736											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		9	349						9	349	---	---	---	---	T	234394237	-	T	234394236	7	5	7	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	6733428	234394236	8805137	19	737											
TATDN2	9797	broad.mit.edu	37	chr3	10291121	10291123	+	In_Frame_Del	DEL	CTC	CTC	-													tcatcccgccgcagaaataaCtcctcctcctccttctcccc					rs377423264		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:10291121_10291123delCTC	ENST00000287652.4	+	2	1288_1290	c.237_239delCTC	c.(235-240)aactcc>aac	p.S83del	TATDN2_ENST00000448281.2_In_Frame_Del_p.S83del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.S26del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCAGAAATAACTCCTCCTCCTCC	0.635																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(235-240)aac>aa		TatD DNase domain containing 2																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291121_10291123delCTC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.237_239delCTC	3.37:g.10291130_10291132delCTC	ENSP00000287652:p.Ser83del					TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del	p.NS79del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1288_1290	+			79					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.237_239delCTC	CCDS33698.1																																																																																				0.635	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		8	1372						8	1372	---	---	---	---	-	10291123	CTC	-	10291121	7	5	7	1	0	1	0	1	0	0	0	0	15644	564	20	0	239	0	TATDN2	3	10291121	In_Frame_Del	DEL	CTC	TCGA-2J-AABE-01A-12D-A40W-08		10291121	187731309	20	738											
NUP210	23225	broad.mit.edu	37	chr3	13401880	13401880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgtcctcagcggtgaCgttctggaagaatttggacg	14	8	3	2	rs149471357		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:13401880C>T	ENST00000254508.5	-	15	2126	c.2044G>A	c.(2044-2046)Gtc>Atc	p.V682I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	682					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCGGTGACGTTCTGGAAG	0.557																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2044-2046)Gtc>Atc		nucleoporin 210kDa		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104	88	93		2044	-3	0.6	3	dbSNP_134	93	0,8600		0,0,4300	no	missense	NUP210	NM_024923.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	682/1888	13401880	1,13005	2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13401880C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2044G>A	3.37:g.13401880C>T	ENSP00000254508:p.Val682Ile						p.V682I	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			15	2126	-	all_neural(104;0.187)		682					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.2044G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654690	0.14580	2.27E-4	0.0	ENSG00000132182	ENST00000254508	T	0.21932	1.98	5.66	-3.03	0.05429	.	0.463730	0.22067	N	0.065098	T	0.08670	0.0215	N	0.04746	-0.17	0.23391	N	0.997774	B;B	0.18310	0.027;0.009	B;B	0.13407	0.009;0.004	T	0.29882	-0.9997	10	0.20519	T	0.43	-17.3968	13.8756	0.63651	0.0:0.4301:0.0:0.5699	.	682;682	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	I	682	ENSP00000254508:V682I	ENSP00000254508:V682I	V	-	1	0	NUP210	13376880	0.001000	0.12720	0.601000	0.28877	0.003000	0.03518	-0.370000	0.07523	-0.380000	0.07894	-0.150000	0.13652	GTC		0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	139	0	0	0	1	0	4	139					T	13401880	C	T	13401880	3	4	7	1	0	0	0	0	1	0	0	0	10802	536	19	1	3723	1	NUP210	3	13401880	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	3110759	13401880	184620550	21	739											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	262						9	262	---	---	---	---	-	49723112	T	-	49723112	6	5	7	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-2J-AABE-01A-12D-A40W-08	36321232	49723112	148299318	22	740											
CISH	1154	broad.mit.edu	37	chr3	50645400	50645400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagcagttggagtccagacGgaagctggagtcggcatact	14	9	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:50645400G>C	ENST00000348721.3	-	3	595	c.415C>G	c.(415-417)Cgt>Ggt	p.R139G	CISH_ENST00000443053.2_Missense_Mutation_p.R156G	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	139	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGTCCAGACGGAAGCTGGAG	0.582																																						ENST00000443053.2																			0				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(466-468)Cgt>Ggt		cytokine inducible SH2-containing protein							70	65	67					3																	50645400		2203	4300	6503	SO:0001583	missense	1154				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular		g.chr3:50645400G>C	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.415C>G	3.37:g.50645400G>C	ENSP00000294173:p.Arg139Gly					CISH_ENST00000348721.3_Missense_Mutation_p.R139G	p.R156G	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	4	693	-			139			SH2.		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	c.466C>G	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803142	0.70682	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.45276	0.9;0.91	5.64	4.72	0.59763	SH2 motif (4);	0.118165	0.64402	D	0.000014	T	0.52273	0.1724	L	0.38649	1.16	0.46849	D	0.999222	D;D	0.65815	0.994;0.995	D;D	0.69307	0.931;0.963	T	0.43893	-0.9363	10	0.36615	T	0.2	-0.3525	15.0278	0.71682	0.0:0.0:0.8569:0.1431	.	156;139	G5E9R1;Q9NSE2	.;CISH_HUMAN	G	156;139	ENSP00000409346:R156G;ENSP00000294173:R139G	ENSP00000294173:R139G	R	-	1	0	CISH	50620404	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.623000	0.46435	2.648000	0.89879	0.563000	0.77884	CGT		0.582	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		32	171	0	0	0	1	0	32	171					C	50645400	G	C	50645400	3	2	7	1	0	0	0	0	1	0	0	0	3446	1116	39	5	365	5	CISH	3	50645400	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	922288	50645400	147377030	23	741											
DNAH1	25981	broad.mit.edu	37	chr3	52388864	52388864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccgaccccaggcactGgacaagatggagaaggagtg	14	11	0	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52388864G>A	ENST00000420323.2	+	21	3747	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1162	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGGCACTGGACAAGATGG	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3484-3486)ctG>ctA		dynein, axonemal, heavy chain 1							47	50	49					3																	52388864		2025	4178	6203	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52388864G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3486G>A	3.37:g.52388864G>A							p.L1162L	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3747	+			1162			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.3486G>A	CCDS46842.1																																																																																				0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		27	119	0	0	0	1	0	27	119					A	52388864	G	A	52388864	2	1	7	1	0	0	0	0	0	0	0	1	4613	1335	47	2		2	DNAH1	3	52388864	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	1743464	52388864	145633566	24	742											
GNL3	26354	broad.mit.edu	37	chr3	52728222	52728222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatataggtgaacagtctacAaggtcttttatcttggataa	8	5	3	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52728222A>G	ENST00000418458.1	+	15	1754	c.1581A>G	c.(1579-1581)acA>acG	p.T527T	SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA|GLT8D1_ENST00000463827.1_5'Flank|GNL3_ENST00000394799.2_Silent_p.T515T	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	527	Acidic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAGTCTACAAGGTCTTTTA	0.333																																						ENST00000394799.2																			0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.(1543-1545)acA>acG		guanine nucleotide binding protein-like 3 (nucleolar)							60	68	65					3																	52728222		2203	4300	6503	SO:0001819	synonymous_variant	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52728222A>G	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1581A>G	3.37:g.52728222A>G						GNL3_ENST00000418458.1_Silent_p.T527T	p.T515T	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	15	1755	+			527			Acidic (By similarity).		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	c.1545A>G	CCDS2861.1																																																																																				0.333	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		41	230	0	0	0	1	0	41	230					G	52728222	A	G	52728222	2	3	7	1	0	0	0	0	0	0	0	1	6566	117	5	4		4	GNL3	3	52728222	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	339358	52728222	145294208	25	743											
NEK4	6787	broad.mit.edu	37	chr3	52778267	52778267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactttacctgaagaggacaTttcttcctgtgactgcttta	7	9	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52778267T>C	ENST00000233027.5	-	11	2084	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	NEK4_ENST00000383721.4_Missense_Mutation_p.M582V|NEK4_ENST00000535191.1_Missense_Mutation_p.M539V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	628					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GAAGAGGACATTTCTTCCTGT	0.418																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1882-1884)Atg>Gtg		NIMA-related kinase 4							231	225	227					3																	52778267		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52778267T>C	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1882A>G	3.37:g.52778267T>C	ENSP00000233027:p.Met628Val					NEK4_ENST00000535191.1_Missense_Mutation_p.M539V|NEK4_ENST00000383721.4_Missense_Mutation_p.M582V	p.M628V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	11	2084	-			628					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.1882A>G	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	T	8.038	0.763137	0.15914	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.71103	2.32;2.32;-0.54;2.32	6.17	-0.564	0.11774	.	1.039550	0.07482	N	0.904039	T	0.47691	0.1459	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.28459	-1.0043	10	0.06891	T	0.86	.	5.4975	0.16811	0.0:0.3227:0.141:0.5363	.	539;582;628	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	V	628;539;582;539	ENSP00000233027:M628V;ENSP00000437703:M539V;ENSP00000373227:M582V;ENSP00000419666:M539V	ENSP00000233027:M628V	M	-	1	0	NEK4	52753307	0.000000	0.05858	0.033000	0.17914	0.775000	0.43874	-0.347000	0.07750	-0.024000	0.13941	0.533000	0.62120	ATG		0.418	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		170	713	0	0	0	1	0	170	713					C	52778267	T	C	52778267	3	2	7	1	0	0	0	0	1	0	0	0	10368	1493	52	4	667	4	NEK4	3	52778267	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	50045	52778267	145244163	26	744											
ABHD6	57406	broad.mit.edu	37	chr3	58270837	58270837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggccttgtcgatgtccGcatccctcataacaacttct	7	14	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:58270837G>A	ENST00000478253.1	+	8	1208	c.707G>A	c.(706-708)cGc>cAc	p.R236H	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443																																						ENST00000478253.1																			1	Substitution - Missense(1)	p.R236H(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(706-708)cGc>cAc		abhydrolase domain containing 6							137	117	124					3																	58270837		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270837G>A	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.707G>A	3.37:g.58270837G>A	ENSP00000420315:p.Arg236His					ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H	p.R236H			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1208	+			236					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.707G>A	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435491	0.96150	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.76709	-1.04;-1.04	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.86578	0.1852	10	0.39692	T	0.17	-11.2637	19.3704	0.94481	0.0:0.0:1.0:0.0	.	236;236	Q9BV23;F5H7L1	ABHD6_HUMAN;.	H	236	ENSP00000420315:R236H;ENSP00000295962:R236H	ENSP00000295962:R236H	R	+	2	0	ABHD6	58245877	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.134000	0.89606	2.666000	0.90696	0.655000	0.94253	CGC		0.443	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		5	506	0	0	0	1	0	5	506					A	58270837	G	A	58270837	3	1	7	1	0	0	0	0	1	0	0	0	86	1087	38	1	729	1	ABHD6	3	58270837	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	5492570	58270837	139751593	27	745											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A													ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		17	235						17	235	---	---	---	---	A	122433232	-	A	122433231	7	5	7	1	0	1	1	0	0	0	0	0	11500	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	64162394	122433231	75589199	28	746											
PLS1	5357	broad.mit.edu	37	chr3	142396872	142396872	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attattctcattttctctttAgcaaaatgatcaacttatct	2	8	4	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:142396872A>T	ENST00000337777.3	+	6	710		c.e6-1		PLS1_ENST00000457734.2_Splice_Site|PLS1_ENST00000497002.1_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTTTCTCTTTAGCAAAATGAT	0.274																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.e6-1		plastin 1							76	76	76					3																	142396872		2203	4297	6500	SO:0001630	splice_region_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142396872A>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.498-1A>T	3.37:g.142396872A>T						PLS1_ENST00000457734.2_Splice_Site|PLS1_ENST00000497002.1_Splice_Site		NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			6	710	+								A8K2Q1|D3DNG3|Q8NEG6	Splice_Site	SNP	ENST00000337777.3	37		CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194080	0.78902	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6515	0.68800	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLS1	143879562	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	8.858000	0.92256	1.864000	0.54056	0.533000	0.62120	.		0.274	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	Intron	38	187	0	0	0	1	0	38	187					T	142396872	A	T	142396872	5	4	7	1	0	0	0	0	0	0	1	0	12149	434	15	5	514	5	PLS1	3	142396872	Splice_Site	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	19963641	142396872	55625558	29	747											
PCOLCE2	26577	broad.mit.edu	37	chr3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-													tgttctgtagttgtaggcagTttttttggcctgaatatgta							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aaafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(811-813)aafs		procollagen C-endopeptidase enhancer 2							165	155	158					3																	142548586		2203	4300	6503	SO:0001589	frameshift_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548586delT	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.813delA	3.37:g.142548586delT	ENSP00000295992:p.Lys271fs					PCOLCE2_ENST00000485766.1_Intron	p.K271fs	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1119	-			271					B2RCH9|D3DNG4|Q9BRH3	Frame_Shift_Del	DEL	ENST00000295992.3	37	c.813delA	CCDS3127.1																																																																																				0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		7	767						7	767	---	---	---	---	-	142548586	T	-	142548586	7	5	7	1	0	1	0	1	0	0	0	0	11637	1722	60	0	450	0	PCOLCE2	3	142548586	Frame_Shift_Del	DEL	T	TCGA-2J-AABE-01A-12D-A40W-08	151714	142548586	55473844	30	748											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		7	831						7	831	---	---	---	---	-	946207	TG	-	946206	7	5	7	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-2J-AABE-01A-12D-A40W-08		946206	190208070	31	749											
TBC1D19	55296	broad.mit.edu	37	chr4	26756566	26756566	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtttgctactgtcacCtgatcttcttcacagtcact	5	12	6	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:26756566C>G	ENST00000264866.4	+	21	1856	c.1578C>G	c.(1576-1578)acC>acG	p.T526T	TBC1D19_ENST00000511789.1_Silent_p.T461T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	526							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTACTGTCACCTGATCTTCTT	0.323																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1576-1578)acC>acG		TBC1 domain family, member 19							159	150	153					4																	26756566		2203	4299	6502	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26756566C>G	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1578C>G	4.37:g.26756566C>G						TBC1D19_ENST00000511789.1_Silent_p.T461T	p.T526T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			21	1856	+		Breast(46;0.0503)	526					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.1578C>G	CCDS3439.1																																																																																				0.323	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		48	270	0	0	0	1	0	48	270					G	26756566	C	G	26756566	2	3	7	1	0	0	0	0	0	0	0	1	15659	668	24	5		5	TBC1D19	4	26756566	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	25810360	26756566	164397710	32	750											
KIAA1211	57482	broad.mit.edu	37	chr4	57182165	57182165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggatagcaaagccagacCctgtgatgccaggtggagag	15	9	0	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57182165C>T	ENST00000504228.1	+	6	2602	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S			Q6ZU35	K1211_HUMAN	KIAA1211	833										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAAGCCAGACCCTGTGATGCC	0.532																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2497-2499)Cct>Tct		KIAA1211							79	85	83					4																	57182165		2080	4235	6315	SO:0001583	missense	57482							g.chr4:57182165C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2497C>T	4.37:g.57182165C>T	ENSP00000423366:p.Pro833Ser					KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S	p.P833S			Q6ZU35	K1211_HUMAN			6	2602	+	Glioma(25;0.08)|all_neural(26;0.101)		833					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2497C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403520	0.42613	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11277	2.8;2.8;2.79	4.77	1.86	0.25419	.	.	.	.	.	T	0.13329	0.0323	L	0.56769	1.78	0.09310	N	1	P;P;B	0.42248	0.774;0.774;0.228	B;B;B	0.41723	0.365;0.365;0.083	T	0.10917	-1.0609	9	0.56958	D	0.05	-4.1736	9.2456	0.37523	0.2097:0.4454:0.3449:0.0	.	826;826;833	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	833;833;826;743	ENSP00000264229:P833S;ENSP00000423366:P833S;ENSP00000444006:P826S	ENSP00000264229:P833S	P	+	1	0	KIAA1211	56876922	0.000000	0.05858	0.043000	0.18650	0.354000	0.29330	-0.069000	0.11542	0.568000	0.29311	0.561000	0.74099	CCT		0.532	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		53	236	0	0	0	1	0	53	236					T	57182165	C	T	57182165	3	4	7	1	0	0	0	0	1	0	0	0	8245	623	22	2	2515	2	KIAA1211	4	57182165	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	30425599	57182165	133972111	33	751											
SPINK2	6691	broad.mit.edu	37	chr4	57676313	57676313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactgctccatcagcaggGtccatttcgaatgattttaa	7	9	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57676313G>A	ENST00000248701.4	-	4	326	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SPINK2_ENST00000506738.1_Missense_Mutation_p.P133S|SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	83	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CATCAGCAGGGTCCATTTCGA	0.368																																						ENST00000506738.1																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(397-399)Ccc>Tcc		serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)							92	89	90					4																	57676313		2203	4300	6503	SO:0001583	missense	6691					extracellular region	serine-type endopeptidase inhibitor activity	g.chr4:57676313G>A	BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"Serine peptidase inhibitors, Kazal type"	11245	protein-coding gene	gene with protein product		605753	"serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.247C>T	4.37:g.57676313G>A	ENSP00000248701:p.Pro83Ser					SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S|SPINK2_ENST00000248701.4_Missense_Mutation_p.P83S	p.P133S	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN			4	476	-	Glioma(25;0.08)|all_neural(26;0.181)		83					Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	c.397C>T	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564566	0.45694	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.75260	-0.92;-0.92;-0.92	5.16	4.3	0.51218	Proteinase inhibitor I1, Kazal (2);	0.478828	0.19574	N	0.111039	T	0.81564	0.4849	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70051	-0.4978	9	0.36615	T	0.2	-14.0426	9.7317	0.40366	0.0954:0.0:0.9046:0.0	.	83	P20155	ISK2_HUMAN	S	83;133;118	ENSP00000248701:P83S;ENSP00000425961:P133S;ENSP00000423858:P118S	ENSP00000248701:P83S	P	-	1	0	SPINK2	57371070	0.051000	0.20477	0.147000	0.22382	0.019000	0.09904	1.709000	0.37909	2.683000	0.91414	0.563000	0.77884	CCC		0.368	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	NM_021114		29	135	0	0	0	1	0	29	135					A	57676313	G	A	57676313	3	1	7	1	0	0	0	0	1	0	0	0	15112	1261	44	2	11	2	SPINK2	4	57676313	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	494148	57676313	133477963	34	752											
UGT2B15	7366	broad.mit.edu	37	chr4	69533868	69533868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggttcgaatgagccacatttCagctttccccattgtctcaa	7	12	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69533868C>G	ENST00000338206.5	-	2	772	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	255					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGCCACATTTCAGCTTTCCCC	0.378																																						ENST00000338206.5																			0											c.(763-765)Gaa>Caa		UDP glucuronosyltransferase 2 family, polypeptide B15							80	87	85					4																	69533868		2202	4280	6482	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69533868C>G	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.763G>C	4.37:g.69533868C>G	ENSP00000341045:p.Glu255Gln						p.E255Q	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			2	772	-			255					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.763G>C	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.905894	0.33628	.	.	ENSG00000196620	ENST00000338206	T	0.61742	0.08	2.44	2.44	0.29823	.	0.138014	0.47093	U	0.000252	T	0.58177	0.2104	M	0.83312	2.635	0.31256	N	0.69353	B	0.31153	0.31	B	0.31337	0.128	T	0.67090	-0.5758	10	0.56958	D	0.05	.	10.5504	0.45085	0.0:1.0:0.0:0.0	.	255	P54855	UDB15_HUMAN	Q	255	ENSP00000341045:E255Q	ENSP00000341045:E255Q	E	-	1	0	UGT2B15	69216463	0.999000	0.42202	0.344000	0.25628	0.679000	0.39708	2.545000	0.45769	1.352000	0.45808	0.305000	0.20034	GAA		0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		6	564	0	0	0	1	0	6	564					G	69533868	C	G	69533868	3	3	7	1	0	0	0	0	1	0	0	0	17012	835	29	5	2466	5	UGT2B15	4	69533868	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	11857555	69533868	121620408	35	753											
UGT2B10	7365	broad.mit.edu	37	chr4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaaatttcctcatccaTtcttaccaaatgttgatttt	2	8	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(805-807)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B10							161	168	166					4																	69683833		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683833T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	p.F269L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	832	+			269					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		6	828	0	0	0	1	0	6	828					C	69683833	T	C	69683833	3	2	7	1	0	0	0	0	1	0	0	0	17010	1493	52	4	811	4	UGT2B10	4	69683833	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	149965	69683833	121470443	36	754											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	1060						8	1060	---	---	---	---	-	13919383	T	-	13919383	7	5	7	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-2J-AABE-01A-12D-A40W-08		13919383	166995877	37	755											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	1100						8	1100	---	---	---	---	-	24492973	A	-	24492973	7	5	7	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-2J-AABE-01A-12D-A40W-08	10573590	24492973	156422287	38	756											
EPB41L4A	64097	broad.mit.edu	37	chr5	111519755	111519756	+	Frame_Shift_Ins	INS	-	-	G													cctgttgttggggtcggcttINSggtttttttccttttgtctc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:111519755_111519756insG	ENST00000261486.5	-	18	1855_1856	c.1579_1580insC	c.(1579-1581)caafs	p.Q527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGGGTCGGCTTGGTTTTTTTCC	0.436																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1579-1581)agcfs		erythrocyte membrane protein band 4.1 like 4A																																				SO:0001589	frameshift_variant	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111519755_111519756insG	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1580dupC	5.37:g.111519757_111519757dupG	ENSP00000261486:p.Gln527fs					EPB41L4A_ENST00000507810.1_5'UTR	p.S527fs	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	18	1855_1856	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	527					A4FUI6	Frame_Shift_Ins	INS	ENST00000261486.5	37	c.1579_1580insC	CCDS43350.1																																																																																				0.436	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			7	486						7	486	---	---	---	---	G	111519756	-	G	111519755	7	5	7	1	0	1	1	0	0	0	0	0	5173	1812	63	0	504	0	EPB41L4A	5	111519755	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	87026782	111519755	69395505	39	757											
PCDHB7	56129	broad.mit.edu	37	chr5	140554541	140554541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctcctgttcgtggcgGtgcggctgtgcaggaggagc	19	10	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554541G>T	ENST00000231137.3	+	1	2299	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	709					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTGGCGGTGCGGCTGTG	0.697																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2125-2127)Gtg>Ttg									75	125	108					5																	140554541		2196	4276	6472	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554541G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2125G>T	5.37:g.140554541G>T	ENSP00000231137:p.Val709Leu						p.V709L	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2299	+			709					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2125G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.312041	0.60414	.	.	ENSG00000113212	ENST00000231137	T	0.11385	2.78	3.98	1.93	0.25924	.	.	.	.	.	T	0.10809	0.0264	M	0.63208	1.945	0.09310	N	1	B	0.24651	0.108	B	0.26614	0.071	T	0.37686	-0.9695	9	0.15066	T	0.55	.	6.341	0.21322	0.1747:0.4309:0.3944:0.0	.	709	Q9Y5E2	PCDB7_HUMAN	L	709	ENSP00000231137:V709L	ENSP00000231137:V709L	V	+	1	0	PCDHB7	140534725	0.000000	0.05858	0.400000	0.26346	0.981000	0.71138	-0.438000	0.06905	0.740000	0.32651	0.449000	0.29647	GTG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		86	528	1	0	5.78178e-49	1	6.25155e-49	86	528					T	140554541	G	T	140554541	3	4	7	1	0	0	0	0	1	0	0	0	11589	1261	44	3	2127	3	PCDHB7	5	140554541	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	29034786	140554541	40360719	40	758			1	2		2	2	12	N	G_C	3.659881e-05
PCDHB7	56129	broad.mit.edu	37	chr5	140554552	140554552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtggcggtgcggctgtgCaggaggagcagggcggcccc	20	11	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554552C>G	ENST00000231137.3	+	1	2310	c.2136C>G	c.(2134-2136)tgC>tgG	p.C712W	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	712					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCTGTGCAGGAGGAGCA	0.672																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2134-2136)tgC>tgG									68	117	100					5																	140554552		2199	4286	6485	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554552C>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2136C>G	5.37:g.140554552C>G	ENSP00000231137:p.Cys712Trp						p.C712W	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2310	+			712					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2136C>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597651	0.46318	.	.	ENSG00000113212	ENST00000231137	T	0.13089	2.62	3.98	3.01	0.34805	.	.	.	.	.	T	0.40398	0.1115	M	0.90542	3.125	0.58432	D	0.999992	D	0.76494	0.999	D	0.70227	0.968	T	0.48581	-0.9023	9	0.26408	T	0.33	.	13.9559	0.64147	0.0:0.7889:0.2111:0.0	.	712	Q9Y5E2	PCDB7_HUMAN	W	712	ENSP00000231137:C712W	ENSP00000231137:C712W	C	+	3	2	PCDHB7	140534736	0.434000	0.25570	1.000000	0.80357	0.821000	0.46438	0.960000	0.29253	1.922000	0.55676	0.449000	0.29647	TGC		0.672	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		88	536	0	0	0	1	0	88	536					G	140554552	C	G	140554552	3	3	7	1	0	0	0	0	1	0	0	0	11589	718	25	5	2138	5	PCDHB7	5	140554552	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	11	140554552	40360708	41	759			1	2		2	2	12	N	G_C	3.659881e-05
PCDHGA1	56114	broad.mit.edu	37	chr5	140711696	140711696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgacttggacagcaAtgagaatgcacaaatcactt	9	11	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140711696A>G	ENST00000517417.1	+	1	1445	c.1445A>G	c.(1444-1446)aAt>aGt	p.N482S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	482	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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGACAGCAATGAGAATGCA	0.532																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1444-1446)aAt>aGt									114	122	119					5																	140711696		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711696A>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1445A>G	5.37:g.140711696A>G	ENSP00000431083:p.Asn482Ser					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S	p.N482S	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1445	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1445A>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	1.687	-0.504958	0.04261	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01725	4.67;4.67	3.82	1.3	0.21679	Cadherin (4);Cadherin-like (1);	0.601272	0.14799	N	0.297753	T	0.01661	0.0053	L	0.46157	1.445	0.09310	N	1	B;B	0.17465	0.005;0.022	B;B	0.18263	0.008;0.021	T	0.48670	-0.9015	10	0.18710	T	0.47	.	2.5653	0.04782	0.3725:0.0:0.278:0.3495	.	482;482	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	482	ENSP00000431083:N482S;ENSP00000367345:N482S	ENSP00000367345:N482S	N	+	2	0	PCDHGA1	140691880	0.000000	0.05858	0.021000	0.16686	0.509000	0.34042	0.572000	0.23684	0.154000	0.19237	0.455000	0.32223	AAT		0.532	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		7	545	0	0	0	1	0	7	545					G	140711696	A	G	140711696	3	3	7	1	0	0	0	0	1	0	0	0	11592	101	4	4	1447	4	PCDHGA1	5	140711696	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	157144	140711696	40203564	42	760											
AGXT2L2	85007	broad.mit.edu	37	chr5	177651565	177651565	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtgtctgggagaggtgCctgtggggagtgacagcgcc	20	7	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:177651565C>G	ENST00000308158.5	-	6	736	c.502G>C	c.(502-504)Gca>Cca	p.A168P	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	168						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GGGAGAGGTGCCTGTGGGGAG	0.622																																						ENST00000308158.5																			0											c.e6-1		5-phosphohydroxy-L-lysine phospho-lyase							100	95	97					5																	177651565		2203	4300	6503	SO:0001630	splice_region_variant	85007							g.chr5:177651565C>G	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.502-1G>C	5.37:g.177651565C>G						PHYKPL_ENST00000481811.1_Intron	p.A168_splice	NM_153373.2	NP_699204.1					6	736	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Splice_Site	SNP	ENST00000308158.5	37	c.501_splice	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795376	0.90453	.	.	ENSG00000175309	ENST00000308158;ENST00000323594	D;D	0.87334	-2.24;-2.24	5.95	5.95	0.96441	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.050828	0.85682	D	0.000000	D	0.94751	0.8306	M	0.91612	3.225	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.76575	0.981;0.988	D	0.95226	0.8338	10	0.72032	D	0.01	-2.27	15.8698	0.79108	0.0:1.0:0.0:0.0	.	168;168	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	P	168;182	ENSP00000310978:A168P;ENSP00000321290:A182P	ENSP00000310978:A168P	A	-	1	0	AGXT2L2	177584171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.786000	0.69006	2.811000	0.96726	0.655000	0.94253	GCA		0.622	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	Missense_Mutation	41	174	0	0	0	1	0	41	174					G	177651565	C	G	177651565	5	3	7	1	0	0	0	0	0	0	1	0	407	753	26	5	878	5	AGXT2L2	5	177651565	Splice_Site	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	36939869	177651565	3263695	43	761											
ATXN1	6310	broad.mit.edu	37	chr6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgatgctgaTgctgctgctgctgctgctgc					rs28555263	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cagcat>cat	p.Q208del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q208del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(622-627)cat>ca		ataxin 1																																				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327916_16327918delTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626delGCA	6.37:g.16327925_16327927delTGC	ENSP00000244769:p.Gln208del					ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del	p.QH210del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1560_1562	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	210			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.624_626delGCA	CCDS34342.1																																																																																				0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		38	45						38	45	---	---	---	---	-	16327918	TGC	-	16327916	7	5	7	1	0	1	0	1	0	0	0	0	1210	1464	51	0	1829	0	ATXN1	6	16327916	In_Frame_Del	DEL	TGC	TCGA-2J-AABE-01A-12D-A40W-08		16327916	154787151	44	762											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835072	27835074	+	In_Frame_Del	DEL	TTC	TTC	-													ccagcttaatgcggctgttaTtcttctccacgtcgtagcca							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:27835072_27835074delTTC	ENST00000331442.3	-	1	285_287	c.234_236delGAA	c.(232-237)aagaat>aat	p.K78del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	78	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGCTGTTATTCTTCTCCACGT	0.557																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(232-237)aat>aa		histone cluster 1, H1b																																				SO:0001651	inframe_deletion	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835072_27835074delTTC	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.234_236delGAA	6.37:g.27835075_27835077delTTC	ENSP00000330074:p.Lys78del						p.KN78del	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	285_287	-			78			H15.		Q14529|Q3MJ42	In_Frame_Del	DEL	ENST00000331442.3	37	c.234_236delGAA	CCDS4635.1																																																																																				0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		185	875						185	875	---	---	---	---	-	27835074	TTC	-	27835072	7	5	7	1	0	1	0	1	0	0	0	0	7153	1493	52	0	448	0	HIST1H1B	6	27835072	In_Frame_Del	DEL	TTC	TCGA-2J-AABE-01A-12D-A40W-08	11507156	27835072	143279995	45	763											
TULP1	7287	broad.mit.edu	37	chr6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-													cgtcctcctcgtcctcctctTcctcctcctcctctgcaggt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_ENST00000322263.4_In_Frame_Del_p.67_68EE>E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	120	Poly-Glu.		Missing (in RP14). {ECO:0000269|PubMed:9660588}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(358-363)gaa>ga		tubby like protein 1				3,4259		0,3,2128						-2.5	0			60	15,8235		0,15,4110	no	coding	TULP1	NM_003322.3		0,18,6238	A1A1,A1R,RR		0.1818,0.0704,0.1439				18,12494				SO:0001651	inframe_deletion	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478775_35478777delTCC	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.360_362delGGA	6.37:g.35478784_35478786delTCC	ENSP00000229771:p.Glu123del					TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	p.EE122del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			5	439_441	-			122		Missing (in RP14).	Poly-Glu.		O43536|Q5TGM5|Q8N571	In_Frame_Del	DEL	ENST00000229771.6	37	c.360_362delGGA	CCDS4807.1																																																																																				0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			10	523						10	523	---	---	---	---	-	35478777	TCC	-	35478775	7	5	7	1	0	1	0	1	0	0	0	0	16827	1783	62	0	1310	0	TULP1	6	35478775	In_Frame_Del	DEL	TCC	TCGA-2J-AABE-01A-12D-A40W-08	7643703	35478775	135636292	46	764											
PKHD1	5314	broad.mit.edu	37	chr6	51921495	51921495	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaagccacggacagcaCctcgttcaaatccaagccgg	10	13	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:51921495C>T	ENST00000371117.3	-	18	1969		c.e18+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGGACAGCACCTCGTTCAAA	0.403																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e18+1		polycystic kidney and hepatic disease 1 (autosomal recessive)							127	132	130					6																	51921495		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51921495C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1693+1G>A	6.37:g.51921495C>T						PKHD1_ENST00000340994.4_Splice_Site		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			18	1969	-	Lung NSC(77;0.0605)							Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37		CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.374	0.835970	0.16891	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6228	0.51128	0.1778:0.8222:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52029454	1.000000	0.71417	0.966000	0.40874	0.011000	0.07611	2.724000	0.47285	1.272000	0.44329	-0.475000	0.04921	.		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Intron	66	356	0	0	0	1	0	66	356					T	51921495	C	T	51921495	5	4	7	1	0	0	0	0	0	0	1	0	12013	521	18	2	10769	2	PKHD1	6	51921495	Splice_Site	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	16442720	51921495	119193572	47	765											
PHIP	55023	broad.mit.edu	37	chr6	79655783	79655783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttgcagctgaagaagtaGatggttgctcagtgacaact	11	7	2	4			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:79655783G>A	ENST00000275034.4	-	38	4732	c.4565C>T	c.(4564-4566)tCt>tTt	p.S1522F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1522					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGAAGAAGTAGATGGTTGCTC	0.388																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4564-4566)tCt>tTt		pleckstrin homology domain interacting protein							136	122	127					6																	79655783		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655783G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4565C>T	6.37:g.79655783G>A	ENSP00000275034:p.Ser1522Phe					PHIP_ENST00000479165.1_5'UTR	p.S1522F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4732	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1522					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4565C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550555	0.65311	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.47528	0.84	6.17	6.17	0.99709	.	0.073633	0.64402	D	0.000017	T	0.46600	0.1401	L	0.27053	0.805	0.51767	D	0.999936	D;D	0.67145	0.996;0.996	P;P	0.61940	0.896;0.896	T	0.18618	-1.0331	9	.	.	.	-18.2928	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1522;1522	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	1522;248	ENSP00000275034:S1522F	.	S	-	2	0	PHIP	79712502	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.084000	0.64462	2.941000	0.99782	0.655000	0.94253	TCT		0.388	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			59	199	0	0	0	1	0	59	199					A	79655783	G	A	79655783	3	1	7	1	0	0	0	0	1	0	0	0	11884	942	33	2	912	2	PHIP	6	79655783	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	27734288	79655783	91459284	48	766											
RARS2	57038	broad.mit.edu	37	chr6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcaagcaatagcgcggcGaaagccgcacgccatgtcca	12	14	0	0	rs201899366	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000392844.3_5'Flank|ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000417380.2_5'Flank|ORC3_ENST00000257789.4_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		12638	0.001		0.0	False		,,,				2504	0.0					ENST00000369536.5																			1	Substitution - Missense(1)	p.R6C(1)	breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(16-18)Cgc>Tgc		arginyl-tRNA synthetase 2, mitochondrial							26	32	30					6																	88299660		2202	4300	6502	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88299660G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.16C>T	6.37:g.88299660G>A	ENSP00000358549:p.Arg6Cys		OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1258		p.R6C	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	1	61	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	6					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.16C>T	CCDS5011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC		0.672	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		24	114	0	0	0	1	0	24	114					A	88299660	G	A	88299660	3	1	7	1	0	0	0	0	1	0	0	0	13109	1058	37	1	1800	1	RARS2	6	88299660	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	8643877	88299660	82815407	49	767											
MDN1	23195	broad.mit.edu	37	chr6	90432674	90432675	+	Splice_Site	INS	-	-	T													taccaagcgtgaaactcaccINSttttttttgtcctcttcggt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:90432674_90432675insT	ENST00000369393.3	-	40	6081_6082	c.5966_5967insA	c.(5965-5967)aag>aaAg	p.K1989fs	MDN1_ENST00000428876.1_Splice_Site_p.K1989fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGAAACTCACCTTTTTTTTGTC	0.401																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e40+1		MDN1, midasin homolog (yeast)																																				SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432674_90432675insT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5967+1->A	6.37:g.90432682_90432682dupT						MDN1_ENST00000428876.1_Splice_Site_p.S1989_splice	p.S1989_splice			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	6081_6082	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1989					O15019|Q5T794	Splice_Site	INS	ENST00000369393.3	37	c.5967_splice	CCDS5024.1																																																																																				0.401	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Frame_Shift_Ins	7	619						7	619	---	---	---	---	T	90432675	-	T	90432674	8	5	7	1	0	1	1	0	0	0	1	0	9456	695	24	0	11075	0	MDN1	6	90432674	Splice_Site	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	2133014	90432674	80682393	50	768											
UTRN	7402	broad.mit.edu	37	chr6	144780435	144780435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgatagctttctgggCcgctaccaagctgtacaaga	11	11	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:144780435C>T	ENST00000367545.3	+	20	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	884	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTTTCTGGGCCGCTACCAAG	0.483																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2650-2652)ggC>ggT		utrophin							68	67	67					6																	144780435		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780435C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2652C>T	6.37:g.144780435C>T							p.G884G	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	20	2652	+		Ovarian(120;0.218)	884			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.2652C>T	CCDS34547.1																																																																																				0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			12	211	0	0	0	1	0	12	211					T	144780435	C	T	144780435	2	4	7	1	0	0	0	0	0	0	0	1	17157	726	26	2		2	UTRN	6	144780435	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	54347761	144780435	26334632	51	769											
ACTB	60	broad.mit.edu	37	chr7	5567750	5567750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcgtacaggtctttgCggatgtccacgtcacacttc	11	11	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:5567750C>T	ENST00000331789.5	-	5	1060	c.869G>A	c.(868-870)cGc>cAc	p.R290H	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	290					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGGTCTTTGCGGATGTCCAC	0.562																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(868-870)cGc>cAc		actin, beta							161	156	158					7																	5567750		2203	4299	6502	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567750C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.869G>A	7.37:g.5567750C>T	ENSP00000349960:p.Arg290His					AC006483.1_ENST00000579427.1_RNA	p.R290H	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1060	-		Ovarian(82;0.0606)	290					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.869G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237064	0.39498	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95885	-3.84	5.41	4.53	0.55603	.	0.000000	0.64402	D	0.000018	D	0.97551	0.9198	M	0.92367	3.3	0.45899	D	0.99874	P	0.36354	0.549	P	0.50378	0.639	D	0.98041	1.0382	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.9212:0.0:0.0788	.	290	P60709	ACTB_HUMAN	H	290;266;262;209	ENSP00000349960:R290H	ENSP00000440549:R209H	R	-	2	0	ACTB	5534276	1.000000	0.71417	0.875000	0.34327	0.902000	0.53008	7.533000	0.81994	1.294000	0.44707	0.556000	0.70494	CGC		0.562	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		6	732	0	0	0	1	0	6	732					T	5567750	C	T	5567750	3	4	7	1	0	0	0	0	1	0	0	0	193	768	27	1	266	1	ACTB	7	5567750	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		5567750	153570913	52	770											
CPVL	54504	broad.mit.edu	37	chr7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T													gatttaaagatcttccaaacINSttttttttctgccttcttgt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aaagttfs	p.V418fs	CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	418						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51																																						ENST00000409850.1																			1	Deletion - Frameshift(1)	p.V418fs*24(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1249-1254)aatttgfs		carboxypeptidase, vitellogenic-like																																				SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070261_29070262insT	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1252dupA	7.37:g.29070269_29070269dupT	ENSP00000387164:p.Val418fs					CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs	p.NL417fs			Q9H3G5	CPVL_HUMAN			16	1897_1898	-			417					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Ins	INS	ENST00000409850.1	37	c.1251_1252insA	CCDS5419.1																																																																																				0.51	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		7	925						7	925	---	---	---	---	T	29070262	-	T	29070261	7	5	7	1	0	1	1	0	0	0	0	0	3844	565	20	0	186	0	CPVL	7	29070261	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	23502511	29070261	130068402	53	771											
ZNF92	168374	broad.mit.edu	37	chr7	64864143	64864143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctacaaatgtgaTgaatgtggcaaagcctttaa	9	7	0	3	rs200450265		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:64864143T>A	ENST00000328747.7	+	4	1315	c.1116T>A	c.(1114-1116)gaT>gaA	p.D372E	ZNF92_ENST00000357512.2_Missense_Mutation_p.D340E|ZNF92_ENST00000450302.2_Missense_Mutation_p.D303E|ZNF92_ENST00000431504.1_Missense_Mutation_p.D296E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	372					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)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ACAAATGTGATGAATGTGGCA	0.368																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(1114-1116)gaT>gaA		zinc finger protein 92							42	46	44					7																	64864143		2193	4293	6486	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864143T>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1116T>A	7.37:g.64864143T>A	ENSP00000332595:p.Asp372Glu					ZNF92_ENST00000450302.2_Missense_Mutation_p.D303E|ZNF92_ENST00000431504.1_Missense_Mutation_p.D296E|ZNF92_ENST00000357512.2_Missense_Mutation_p.D340E	p.D372E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	1315	+		Lung NSC(55;0.159)	372					A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.1116T>A	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	T	1.188	-0.636269	0.03557	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	0.427	-0.854	0.10705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02380	0.0073	N	0.03115	-0.41	0.21290	N	0.999737	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.43589	-0.9382	9	0.02654	T	1	.	3.5562	0.07865	0.6386:0.0:0.0:0.3614	.	340;372	Q03936-3;Q03936	.;ZNF92_HUMAN	E	372;296;340;303	ENSP00000332595:D372E;ENSP00000400495:D296E;ENSP00000350113:D340E;ENSP00000396126:D303E	ENSP00000332595:D372E	D	+	3	2	ZNF92	64501578	0.000000	0.05858	0.863000	0.33907	0.858000	0.48976	-8.704000	0.00017	-0.632000	0.05553	-0.691000	0.03719	GAT		0.368	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		5	402	0	0	0	1	0	5	402					A	64864143	T	A	64864143	3	1	7	1	0	0	0	0	1	0	0	0	18254	1461	51	5	1130	5	ZNF92	7	64864143	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	35793882	64864143	94274520	54	772											
PHTF2	57157	broad.mit.edu	37	chr7	77569580	77569581	+	Frame_Shift_Ins	INS	-	-	T													tgtctcttgtgtggattttcINSttttttttgctctgtgtagc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:77569580_77569581insT	ENST00000248550.7	+	13	1777_1778	c.1701_1702insT	c.(1702-1704)tttfs	p.F568fs	PHTF2_ENST00000424760.1_Frame_Shift_Ins_p.F530fs|PHTF2_ENST00000307305.8_Frame_Shift_Ins_p.F530fs|PHTF2_ENST00000422959.2_Frame_Shift_Ins_p.F534fs|PHTF2_ENST00000416283.2_Frame_Shift_Ins_p.F534fs|PHTF2_ENST00000275575.7_Frame_Shift_Ins_p.F530fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGTGGATTTTCTTTTTTTTGCT	0.307																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1597-1602)ttttttfs		putative homeodomain transcription factor 2																																				SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569580_77569581insT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1709dupT	7.37:g.77569588_77569588dupT	ENSP00000248550:p.Phe568fs					PHTF2_ENST00000307305.8_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000275575.7_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000422959.2_Frame_Shift_Ins_p.FF533fs|PHTF2_ENST00000424760.1_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000248550.7_Frame_Shift_Ins_p.FF567fs	p.FF533fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1725_1726	+			567					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Ins	INS	ENST00000248550.7	37	c.1599_1600insT																																																																																					0.307	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		10	617						10	617	---	---	---	---	T	77569581	-	T	77569580	7	5	7	1	0	1	1	0	0	0	0	0	11905	912	32	0	1699	0	PHTF2	7	77569580	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	12705437	77569580	81569083	55	773											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442629	95442629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaagccaagactcaggCgatctggggccattaacaag	13	10	2	1	rs145885345		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:95442629C>T	ENST00000324972.6	+	4	538	c.345C>T	c.(343-345)ggC>ggT	p.G115G	DYNC1I1_ENST00000359388.4_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G|DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	115	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAGACTCAGGCGATCTGGGGC	0.423																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(343-345)ggC>ggT		dynein, cytoplasmic 1, intermediate chain 1		C	,,	0,4406		0,0,2203	72	70	70		294,294,345	0.6	1	7	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	98/629,98/609,115/646	95442629	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442629C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.345C>T	7.37:g.95442629C>T						DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G|DYNC1I1_ENST00000359388.4_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G	p.G115G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	538	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		115			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.345C>T	CCDS5644.1																																																																																				0.423	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		51	226	0	0	0	1	0	51	226					T	95442629	C	T	95442629	2	4	7	1	0	0	0	0	0	0	0	1	4858	755	27	1		1	DYNC1I1	7	95442629	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	17873049	95442629	63696034	56	774											
ZNF498	221785	broad.mit.edu	37	chr7	99219001	99219001	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaactgttcttaggttccAtgccacaggcagggagagca	14	9	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:99219001A>T	ENST00000394152.2	+	5	720	c.393A>T	c.(391-393)ccA>ccT	p.P131P	ZSCAN25_ENST00000262941.6_Silent_p.P131P|ZSCAN25_ENST00000334715.3_Silent_p.P131P|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	131					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)										CTTAGGTTCCATGCCACAGGC	0.522																																						ENST00000394152.2																			0											c.(391-393)ccA>ccT		zinc finger and SCAN domain containing 25							70	69	69					7																	99219001		2203	4300	6503	SO:0001819	synonymous_variant	221785							g.chr7:99219001A>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.393A>T	7.37:g.99219001A>T						ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Silent_p.P131P|ZSCAN25_ENST00000262941.6_Silent_p.P131P	p.P131P	NM_145115.2	NP_660090.2					5	720	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	c.393A>T	CCDS5671.2																																																																																				0.522	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		36	365	0	0	0	1	0	36	365					T	99219001	A	T	99219001	2	4	7	1	0	0	0	0	0	0	0	1	18000	204	8	5		5	ZNF498	7	99219001	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	3776372	99219001	59919662	57	775											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79	80	80					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		8	427						8	427	---	---	---	---	-	152346220	A	-	152346220	7	5	7	1	0	1	0	1	0	0	0	0	17507	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-2J-AABE-01A-12D-A40W-08	53127219	152346220	6792443	58	776											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)cccfs	p.P343fs	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCGATGCCACCCCCCTGCCA	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1024-1026)ccfs		chromosome 9 open reading frame 131							183	209	200					9																	35043650		2203	4300	6503	SO:0001589	frameshift_variant	138724							g.chr9:35043650delC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1024delC	9.37:g.35043650delC	ENSP00000308279:p.Pro343fs					C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	p.P343fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1071	+	all_epithelial(49;0.22)		343					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	c.1024delC	CCDS6572.2																																																																																				0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	1861						8	1861	---	---	---	---	-	35043650	C	-	35043650	7	5	7	1	0	1	0	1	0	0	0	0	2464	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-2J-AABE-01A-12D-A40W-08		35043650	106169781	59	777											
MARCH8	220972	broad.mit.edu	37	chr10	45954652	45954652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacatgtgatggcaatgaCgtggaatgtcactgagcaca	11	9	1	3	rs573798318		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:45954652C>T	ENST00000319836.3	-	6	1236	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I|MARCH8_ENST00000453424.2_Missense_Mutation_p.V445I	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	163					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATGGCAATGACGTGGAATGTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		22136	0.0		0.0	False		,,,				2504	0.001				NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1333-1335)Gtc>Atc		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							218	166	184					10																	45954652		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954652C>T	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.487G>A	10.37:g.45954652C>T	ENSP00000317087:p.Val163Ile					MARCH8_ENST00000319836.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000476962.1_5'UTR	p.V445I			Q5T0T0	MARH8_HUMAN			7	1594	-			163					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1333G>A	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.459|1.459	-0.562957|-0.562957	0.03939|0.03939	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000453424|ENST00000395771;ENST00000319836;ENST00000395769	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.9|5.9	-0.201|-0.201	0.13212|0.13212	.|.	.|0.420336	.|0.27932	.|N	.|0.017271	T|T	0.07593|0.07593	0.0191|0.0191	N|N	0.16790|0.16790	0.44|0.44	0.25795|0.25795	N|N	0.984575|0.984575	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.32402|0.32402	-0.9908|-0.9908	5|10	.|0.25751	.|T	.|0.34	-18.5993|-18.5993	11.5774|11.5774	0.50869|0.50869	0.0:0.5925:0.0:0.4075|0.0:0.5925:0.0:0.4075	.|.	.|163;327	.|Q5T0T0;Q5JQ16	.|MARH8_HUMAN;.	H|I	327|163	.|ENSP00000379118:V163I;ENSP00000317087:V163I;ENSP00000379116:V163I	.|ENSP00000317087:V163I	R|V	-|-	2|1	0|0	MARCH8|MARCH8	45274658|45274658	0.077000|0.077000	0.21312|0.21312	0.050000|0.050000	0.19076|0.19076	0.019000|0.019000	0.09904|0.09904	-0.500000|-0.500000	0.06405|0.06405	-0.280000|-0.280000	0.09154|0.09154	-1.814000|-1.814000	0.00607|0.00607	CGT|GTC		0.527	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		105	316	0	0	0	1	0	105	316					T	45954652	C	T	45954652	3	4	7	1	0	0	0	0	1	0	0	0	9348	536	19	1	396	1	MARCH8	10	45954652	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		45954652	89580095	60	778											
FGF8	2253	broad.mit.edu	37	chr10	103534555	103534555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacctgcacgtgcttccCgctggtgcggctgtagagtt	14	12	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:103534555C>T	ENST00000344255.3	-	4	237	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	FGF8_ENST00000346714.3_Missense_Mutation_p.G51R|FGF8_ENST00000320185.2_Missense_Mutation_p.G91R|FGF8_ENST00000347978.2_Missense_Mutation_p.G62R|FGF8_ENST00000485728.1_5'UTR			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	80					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACGTGCTTCCCGCTGGTGCGG	0.617																																						ENST00000347978.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5						c.(184-186)Ggg>Agg		fibroblast growth factor 8 (androgen-induced)							80	74	76					10																	103534555		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103534555C>T	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.238G>A	10.37:g.103534555C>T	ENSP00000340039:p.Gly80Arg					FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.G91R|FGF8_ENST00000344255.3_Missense_Mutation_p.G80R|FGF8_ENST00000346714.3_Missense_Mutation_p.G51R	p.G62R	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	353	-		Colorectal(252;0.122)	80					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.184G>A	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912868	0.92178	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.97110	0.963;0.963;0.832;1.0	D	0.95533	0.8605	10	0.51188	T	0.08	-14.5959	17.494	0.87712	0.0:1.0:0.0:0.0	.	51;62;91;80	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	R	80;91;51;62	ENSP00000340039:G80R;ENSP00000321797:G91R;ENSP00000344306:G51R;ENSP00000321945:G62R	ENSP00000321797:G91R	G	-	1	0	FGF8	103524545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.237000	0.78164	2.371000	0.80710	0.486000	0.48141	GGG		0.617	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		5	188	0	0	0	1	0	5	188					T	103534555	C	T	103534555	3	4	7	1	0	0	0	0	1	0	0	0	5883	652	23	1	475	1	FGF8	10	103534555	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	57579903	103534555	32000192	61	779											
MUC5B	727897	broad.mit.edu	37	chr11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccaccagctccacgGccacgccctcctcaactccg	6	24	1	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:1263793G>A	ENST00000529681.1	+	31	5741	c.5683G>A	c.(5683-5685)Gcc>Acc	p.A1895T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1898T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		CAGCTCCACGGCCACGCCCTC	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5692-5694)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							86	107	100					11																	1263793		2185	4270	6455	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263793G>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		ENST00000529681.1:c.5683G>A	11.37:g.1263793G>A	ENSP00000436812:p.Ala1895Thr					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T	p.A1898T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5750	+		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)	1895			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5692G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.24	1.581583	0.28180	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.14391	2.51;2.68	3.68	-7.36	0.01417	.	.	.	.	.	T	0.09949	0.0244	L	0.50333	1.59	0.09310	N	1	B;B	0.25521	0.128;0.128	B;B	0.22386	0.039;0.039	T	0.36768	-0.9734	9	0.87932	D	0	.	4.4334	0.11538	0.5214:0.0932:0.2922:0.0932	.	2588;1898	A7Y9J9;E9PBJ0	.;.	T	1895;1898;1896;1965	ENSP00000436812:A1895T;ENSP00000415793:A1898T	ENSP00000343037:A1896T	A	+	1	0	MUC5B	1220369	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.214000	0.02988	-1.442000	0.01955	-0.970000	0.02610	GCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	504	0	0	0	1	0	5	504					A	1263793	G	A	1263793	3	1	7	1	0	0	0	0	1	0	0	0	10020	1203	42	2	5814	2	MUC5B	11	1263793	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		1263793	133742723	62	780											
OR4C6	219432	broad.mit.edu	37	chr11	55433335	55433335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacagctctaaagggcgGcacaaagccctctctacctg	8	14	3	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507																																						ENST00000314259.3																			1	Substitution - coding silent(1)	p.R231R(1)	kidney(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(691-693)cgG>cgA		olfactory receptor, family 4, subfamily C, member 6							131	125	127					11																	55433335		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433335G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.693G>A	11.37:g.55433335G>A							p.R231R	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	722	+			231					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.693G>A	CCDS31506.1																																																																																				0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		5	535	0	0	0	1	0	5	535					A	55433335	G	A	55433335	2	1	7	1	0	0	0	0	0	0	0	1	11094	1190	42	2		2	OR4C6	11	55433335	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	54169542	55433335	79573181	63	781											
KCNA5	3741	broad.mit.edu	37	chr12	5154148	5154148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgagttcagggatgaaCgtgagctgctccgccaccct	12	13	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:5154148C>A	ENST00000252321.3	+	1	1064	c.835C>A	c.(835-837)Cgt>Agt	p.R279S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	279					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CAGGGATGAACGTGAGCTGCT	0.687																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(835-837)Cgt>Agt		potassium voltage-gated channel, shaker-related subfamily, member 5							69	71	70					12																	5154148		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154148C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.835C>A	12.37:g.5154148C>A	ENSP00000252321:p.Arg279Ser						p.R279S	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1064	+			279					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.835C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249281	0.22880	.	.	ENSG00000130037	ENST00000252321	T	0.62639	0.01	4.77	3.87	0.44632	.	.	.	.	.	T	0.51126	0.1656	L	0.35793	1.09	0.19300	N	0.999971	B	0.06786	0.001	B	0.15484	0.013	T	0.45833	-0.9234	9	0.52906	T	0.07	.	9.0243	0.36220	0.2765:0.5838:0.1397:0.0	.	279	P22460	KCNA5_HUMAN	S	279	ENSP00000252321:R279S	ENSP00000252321:R279S	R	+	1	0	KCNA5	5024409	0.000000	0.05858	0.874000	0.34290	0.974000	0.67602	-0.392000	0.07314	1.226000	0.43582	0.561000	0.74099	CGT		0.687	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		56	318	1	0	6.3091e-27	1	6.7375e-27	56	318					A	5154148	C	A	5154148	3	1	7	1	0	0	0	0	1	0	0	0	8036	536	19	3	837	3	KCNA5	12	5154148	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		5154148	128697747	64	782											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		28	162	0	0	0	1	0	28	162					G	25398285	C	G	25398285	3	3	7	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	20244137	25398285	108453610	65	783											
PAH	5053	broad.mit.edu	37	chr12	103306580	103306580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgacctcaaataagcGcaatactttggccaatgcac	7	12	1	1	rs199475619		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:103306580G>A	ENST00000553106.1	-	2	629	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	PAH_ENST00000307000.2_Missense_Mutation_p.R48C|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	53	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		R -> H (in PKU; dbSNP:rs118092776). {ECO:0000269|PubMed:9452061}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAATAAGCGCAATACTTTG	0.383																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CM010948	PAH	M		c.(157-159)Cgc>Tgc		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						210	176	188					12																	103306580		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103306580G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.157C>T	12.37:g.103306580G>A	ENSP00000448059:p.Arg53Cys					PAH_ENST00000307000.2_Missense_Mutation_p.R48C|PAH_ENST00000551988.1_5'UTR	p.R53C	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			2	629	-			53		R -> H (in PKU).	ACT.		Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.157C>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455662	0.43634	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	5.46	4.57	0.56435	Amino acid-binding ACT (1);	0.103551	0.64402	D	0.000008	D	0.97492	0.9179	M	0.62016	1.91	0.80722	D	1	B;B	0.25272	0.122;0.04	B;B	0.20577	0.03;0.013	D	0.96114	0.9079	10	0.87932	D	0	-18.3309	10.8105	0.46545	0.0883:0.0:0.9117:0.0	rs62650748	53;53	B4DPN2;P00439	.;PH4H_HUMAN	C	53;48;53;53	ENSP00000448059:R53C;ENSP00000303500:R48C;ENSP00000447620:R53C;ENSP00000446658:R53C	ENSP00000303500:R48C	R	-	1	0	PAH	101830710	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.568000	0.45965	2.549000	0.85964	0.655000	0.94253	CGC		0.383	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			10	388	0	0	0	1	0	10	388					A	103306580	G	A	103306580	3	1	7	1	0	0	0	0	1	0	0	0	11436	1087	38	1	1249	1	PAH	12	103306580	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	77908295	103306580	30545315	66	784											
HVCN1	84329	broad.mit.edu	37	chr12	111121035	111121035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagaatccattaccttttCgtcccaggtggccatgtccc	7	15	0	1	rs147424254		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:111121035C>T	ENST00000356742.5	-	2	769	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K|HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	6					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATTACCTTTTCGTCCCAGGTG	0.458																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(16-18)Gaa>Aaa		hydrogen voltage-gated channel 1							231	213	219					12																	111121035		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111121035C>T	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.16G>A	12.37:g.111121035C>T	ENSP00000349181:p.Glu6Lys					HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K	p.E6K			Q96D96	HVCN1_HUMAN			2	769	-			6					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.16G>A	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	C	5.668	0.307807	0.10733	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000546713	T;T;T	0.42900	0.96;0.96;0.96	4.03	3.12	0.35913	.	2.162620	0.01930	N	0.041205	T	0.32224	0.0822	N	0.22421	0.69	0.19775	N	0.999958	B;B	0.31413	0.216;0.322	B;B	0.25759	0.028;0.063	T	0.26121	-1.0112	10	0.39692	T	0.17	7.908	9.5178	0.39115	0.0:0.7734:0.2266:0.0	.	6;6	Q96D96;Q96D96-3	HVCN1_HUMAN;.	K	6	ENSP00000449601:E6K;ENSP00000242607:E6K;ENSP00000349181:E6K	ENSP00000242607:E6K	E	-	1	0	HVCN1	109605418	0.033000	0.19621	0.071000	0.20095	0.013000	0.08279	1.484000	0.35508	1.244000	0.43870	0.655000	0.94253	GAA		0.458	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		136	610	0	0	0	1	0	136	610					T	111121035	C	T	111121035	3	4	7	1	0	0	0	0	1	0	0	0	7492	893	31	1	829	1	HVCN1	12	111121035	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	7814455	111121035	22730860	67	785											
PARP4	143	broad.mit.edu	37	chr13	25043223	25043223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcttctaggtactctTgctgggcttcttccttctct	8	13	5	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr13:25043223T>C	ENST00000381989.3	-	17	2177	c.2072A>G	c.(2071-2073)cAa>cGa	p.Q691R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	691	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TAGGTACTCTTGCTGGGCTTC	0.463																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2071-2073)cAa>cGa		poly (ADP-ribose) polymerase family, member 4							116	108	111					13																	25043223		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25043223T>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2072A>G	13.37:g.25043223T>C	ENSP00000371419:p.Gln691Arg						p.Q691R	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	17	2177	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	691			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2072A>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.397935	0.00198	.	.	ENSG00000102699	ENST00000381989	T	0.23950	1.88	4.08	-2.64	0.06114	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.573800	0.17015	N	0.190356	T	0.07503	0.0189	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38112	-0.9676	10	0.02654	T	1	-0.2812	10.6393	0.45584	0.0:0.2205:0.0:0.7795	.	691	Q9UKK3	PARP4_HUMAN	R	691	ENSP00000371419:Q691R	ENSP00000371419:Q691R	Q	-	2	0	PARP4	23941223	0.000000	0.05858	0.067000	0.19924	0.027000	0.11550	-0.598000	0.05706	-0.464000	0.06963	-0.431000	0.05894	CAA		0.463	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		7	327	0	0	0	1	0	7	327					C	25043223	T	C	25043223	3	2	7	1	0	0	0	0	1	0	0	0	11505	1812	63	4	3174	4	PARP4	13	25043223	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08		25043223	90126655	68	786											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	100	0	0	0	1	0	4	100					T	24424420	C	T	24424420	5	4	7	1	0	0	0	0	0	0	1	0	4508	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		24424420	82925120	69	787											
SNX6	58533	broad.mit.edu	37	chr14	35072604	35072604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttaaatctcttctcaaaaTaggatgtgctgccacacgac	6	10	2	0	rs530960694		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:35072604T>C	ENST00000362031.4	-	6	532	c.502A>G	c.(502-504)Att>Gtt	p.I168V	SNX6_ENST00000396534.3_Missense_Mutation_p.I40V|SNX6_ENST00000355110.5_Missense_Mutation_p.I44V|SNX6_ENST00000396526.3_Missense_Mutation_p.I40V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	156	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTCTCAAAATAGGATGTGCT	0.338																																						ENST00000396526.3																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(118-120)Att>Gtt		sorting nexin 6							73	70	71					14																	35072604		2203	4300	6503	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35072604T>C	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.502A>G	14.37:g.35072604T>C	ENSP00000355217:p.Ile168Val					SNX6_ENST00000355110.5_Missense_Mutation_p.I44V|SNX6_ENST00000362031.4_Missense_Mutation_p.I168V|SNX6_ENST00000396534.3_Missense_Mutation_p.I40V	p.I40V			Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	5	614	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		156			PX.		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.118A>G	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.624808	0.00820	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110;ENST00000557265	T;T;T;T;T	0.37411	2.07;2.07;1.2;2.06;1.2	5.66	3.27	0.37495	Phox homologous domain (4);	0.053291	0.85682	D	0.000000	T	0.12689	0.0308	N	0.03209	-0.39	0.46185	D	0.998915	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20438	-1.0275	10	0.02654	T	1	-14.025	8.1078	0.30896	0.1208:0.0657:0.0:0.8135	.	44;156	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	40;40;168;44;131	ENSP00000379779:I40V;ENSP00000379785:I40V;ENSP00000355217:I168V;ENSP00000347230:I44V;ENSP00000452577:I131V	ENSP00000347230:I44V	I	-	1	0	SNX6	34142355	1.000000	0.71417	0.931000	0.37212	0.094000	0.18550	3.258000	0.51507	0.490000	0.27771	-0.290000	0.09829	ATT		0.338	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			40	209	0	0	0	1	0	40	209					C	35072604	T	C	35072604	3	2	7	1	0	0	0	0	1	0	0	0	14956	1406	49	4	790	4	SNX6	14	35072604	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	10648184	35072604	72276936	70	788											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		8	159						8	159	---	---	---	---	-	93397926	GAG	-	93397924	7	5	7	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-2J-AABE-01A-12D-A40W-08	58325320	93397924	13951616	71	789											
AHNAK2	113146	broad.mit.edu	37	chr14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgccctttgaagccgGctccctcgggaagggggccc	17	13	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5203-5205)gCc>gTc		AHNAK nucleoprotein 2							85	97	93					14																	105416584		1813	4035	5848	SO:0001583	missense	113146					nucleus		g.chr14:105416584G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5204C>T	14.37:g.105416584G>A	ENSP00000353114:p.Ala1735Val					AHNAK2_ENST00000557457.1_Intron	p.A1735V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5323	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1735					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5204C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	892	0	0	0	1	0	7	892					A	105416584	G	A	105416584	3	1	7	1	0	0	0	0	1	0	0	0	415	1203	42	2	12187	2	AHNAK2	14	105416584	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	12018660	105416584	1932956	72	790											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	628						7	628	---	---	---	---	-	1824300	TGC	-	1824298	7	5	7	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-2J-AABE-01A-12D-A40W-08		1824298	88530455	73	791											
C16orf79	283870	broad.mit.edu	37	chr16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-													acccccacagcggccagcacCagcagcagcagcagcaggag					rs371145262		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.66	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		8	161						8	161	---	---	---	---	-	2260588	CAG	-	2260586	7	5	7	1	0	1	0	1	0	0	0	0	1841	581	21	0	589	0	C16orf79	16	2260586	In_Frame_Del	DEL	CAG	TCGA-2J-AABE-01A-12D-A40W-08	436288	2260586	88094167	74	792											
ZC3H7A	29066	broad.mit.edu	37	chr16	11868213	11868213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggcatctttcctccatttGccagcactgcagatggcaga	10	12	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:11868213G>C	ENST00000396516.2	-	8	979	c.782C>G	c.(781-783)gCa>gGa	p.A261G	ZC3H7A_ENST00000575170.1_5'Flank|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A261G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	261						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCTCCATTTGCCAGCACTGC	0.473																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(781-783)gCa>gGa		zinc finger CCCH-type containing 7A							96	87	90					16																	11868213		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11868213G>C	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.782C>G	16.37:g.11868213G>C	ENSP00000379773:p.Ala261Gly					ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A261G	p.A261G			Q8IWR0	Z3H7A_HUMAN			8	979	-			261					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.782C>G	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739347	0.69304	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10192	2.9;2.9	5.74	4.79	0.61399	.	0.212421	0.48286	D	0.000199	T	0.11750	0.0286	L	0.46157	1.445	0.80722	D	1	D	0.54772	0.968	P	0.45343	0.477	T	0.13575	-1.0504	10	0.25751	T	0.34	.	9.4098	0.38485	0.0754:0.1438:0.7808:0.0	.	261	Q8IWR0	Z3H7A_HUMAN	G	261	ENSP00000347999:A261G;ENSP00000379773:A261G	ENSP00000347999:A261G	A	-	2	0	ZC3H7A	11775714	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	3.028000	0.49705	1.439000	0.47511	0.467000	0.42956	GCA		0.473	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		8	280	0	0	0	1	0	8	280					C	11868213	G	C	11868213	3	2	7	1	0	0	0	0	1	0	0	0	17625	1319	46	5	2193	5	ZC3H7A	16	11868213	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	9607627	11868213	78486540	75	793											
ABCC6	368	broad.mit.edu	37	chr16	16248786	16248786	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccccacgtgggcaatggGgaccccgtcgatccagatcc	12	16	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16248786G>C	ENST00000205557.7	-	28	4014	c.3985C>G	c.(3985-3987)Ccc>Gcc	p.P1329A		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TGGGCAATGGGGACCCCGTCG	0.677																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(3985-3987)Ccc>Gcc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							30	26	27					16																	16248786		2197	4299	6496	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16248786G>C	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3985C>G	16.37:g.16248786G>C	ENSP00000205557:p.Pro1329Ala						p.P1329A	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	28	4014	-			1329			ABC transporter 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3985C>G	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569435	0.45798	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90444	-2.67	4.53	0.927	0.19437	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.674572	0.12392	U	0.472885	D	0.85609	0.5736	L	0.28694	0.88	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.50192	0.634;0.634	T	0.80381	-0.1406	10	0.66056	D	0.02	.	2.4178	0.04440	0.0966:0.1762:0.2948:0.4325	.	1329;1329	O95255;A8Y988	MRP6_HUMAN;.	A	1329;267	ENSP00000205557:P1329A	ENSP00000205557:P1329A	P	-	1	0	ABCC6	16156287	1.000000	0.71417	0.994000	0.49952	0.687000	0.40016	1.409000	0.34680	0.323000	0.23307	0.465000	0.42564	CCC		0.677	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			8	66	0	0	0	1	0	8	66					C	16248786	G	C	16248786	3	2	7	1	0	0	0	0	1	0	0	0	57	1232	43	5	542	5	ABCC6	16	16248786	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	4380573	16248786	74105967	76	794											
ABCC6	368	broad.mit.edu	37	chr16	16284080	16284080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggccggaggtccGcaaggcgcccagctcctggc	17	13	0	1	rs72664217		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16284080G>A	ENST00000205557.7	-	12	1605	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	526	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCGGAGGTCCGCAAGGCGCCC	0.577																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CI063637	ABCC6	I	rs72664217	c.(1576-1578)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							79	80	80					16																	16284080		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284080G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1576C>T	16.37:g.16284080G>A	ENSP00000205557:p.Arg526Trp					ABCC6_ENST00000574094.1_5'UTR	p.R526W	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1605	-			526			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1576C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366424	0.41902	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.90004	-2.6;-2.6	4.9	1.34	0.21922	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.413118	0.19564	U	0.111280	D	0.92315	0.7562	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68483	0.929;0.958	D	0.91095	0.4910	10	0.87932	D	0	.	13.4957	0.61424	0.0:0.0:0.5684:0.4316	.	538;526	F5GWQ0;O95255	.;MRP6_HUMAN	W	526;526;538	ENSP00000205557:R526W;ENSP00000405002:R526W	ENSP00000205557:R526W	R	-	1	2	ABCC6	16191581	1.000000	0.71417	0.895000	0.35142	0.168000	0.22595	3.701000	0.54793	-0.029000	0.13827	-0.314000	0.08810	CGG		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			6	378	0	0	0	1	0	6	378					A	16284080	G	A	16284080	3	1	7	1	0	0	0	0	1	0	0	0	57	1086	38	1	3015	1	ABCC6	16	16284080	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	35294	16284080	74070673	77	795											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	348						8	348	---	---	---	---	-	30982811	TCC	-	30982809	7	5	7	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-2J-AABE-01A-12D-A40W-08	14698729	30982809	59371944	78	796											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	233						7	233	---	---	---	---	-	69726422	CAG	-	69726420	7	5	7	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-2J-AABE-01A-12D-A40W-08	38743611	69726420	20628333	79	797											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		10	581						10	581	---	---	---	---	-	17394707	CAG	-	17394705	7	5	7	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-2J-AABE-01A-12D-A40W-08		17394705	63800505	80	798											
KRT17	3872	broad.mit.edu	37	chr17	39780381	39780381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggctgtagtcacgggcGggccccggggcctgcctctg	16	14	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:39780381G>A	ENST00000311208.8	-	1	448	c.381C>T	c.(379-381)ccC>ccT	p.P127P	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTCACGGGCGGGCCCCGGGG	0.642																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(379-381)ccC>ccT		keratin 17							58	76	70					17																	39780381		2203	4300	6503	SO:0001819	synonymous_variant	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780381G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.381C>T	17.37:g.39780381G>A						JUP_ENST00000540235.1_Intron	p.P127P	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN			1	448	-		Breast(137;0.000307)	127			Linker 1.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.381C>T	CCDS11402.1																																																																																				0.642	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		6	808	0	0	0	1	0	6	808					A	39780381	G	A	39780381	2	1	7	1	0	0	0	0	0	0	0	1	8484	1103	39	1		1	KRT17	17	39780381	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	22385676	39780381	41414829	81	799											
CCDC103	388389	broad.mit.edu	37	chr17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-													ctaagcctgctgagccgggcAgagagagagagctgcaaggg							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|EFTUD2_ENST00000426333.2_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644																																						ENST00000417826.2																			1	Substitution - Missense(1)	p.E187K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(556-561)gcagfs		coiled-coil domain containing 103																																				SO:0001589	frameshift_variant	388389							g.chr17:42980014_42980015delAG	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.558_559delAG	17.37:g.42980024_42980025delAG	ENSP00000391692:p.Glu187fs					FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000331733.4_5'UTR	p.AE186fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	653_654	+		Prostate(33;0.109)	186					A8K145|B8ZZU0	Frame_Shift_Del	DEL	ENST00000417826.2	37	c.558_559delAG	CCDS11490.1																																																																																				0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		8	224						8	224	---	---	---	---	-	42980015	AG	-	42980014	7	5	7	1	0	1	0	1	0	0	0	0	2745	175	7	0	568	0	CCDC103	17	42980014	Frame_Shift_Del	DEL	AG	TCGA-2J-AABE-01A-12D-A40W-08	3199633	42980014	38215196	82	800											
RNF43	54894	broad.mit.edu	37	chr17	56492875	56492875	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgtccaaagcctgcctGcagggtagccatcagcagcc	12	14	1	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:56492875G>A	ENST00000584437.1	-	1	2019	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*			Q68DV7	RNF43_HUMAN	ring finger protein 43	22					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q22*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCCTGCCTGCAGGGTAGCC	0.552																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.Q22*(1)	endometrium(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(64-66)Cag>Tag		ring finger protein 43							42	40	41					17																	56492875		2202	4299	6501	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492875G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.64C>T	17.37:g.56492875G>A	ENSP00000463069:p.Gln22*					RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|BZRAP1-AS1_ENST00000583841.1_RNA	p.Q22*			Q68DV7	RNF43_HUMAN			1	2019	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		22					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.64C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	42	9.321529	0.99137	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.69	5.69	0.88448	.	0.231655	0.31290	N	0.007907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.897	19.1688	0.93569	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000385328:Q22X	Q	-	1	0	RNF43	53847874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.758000	0.91663	2.840000	0.97914	0.655000	0.94253	CAG		0.552	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		48	167	0	0	0	1	0	48	167					A	56492875	G	A	56492875	4	1	7	1	0	0	0	0	0	1	0	0	13545	1328	46	2	2323	2	RNF43	17	56492875	Nonsense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	13512861	56492875	24702335	83	801											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	15	6	1	2	rs190733334	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		21764	0.003		0.0	False		,,,				2504	0.0					ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(226-228)gCg>gTg		Rho GTPase activating protein 28							224	213	217					18																	6859874		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859874C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.704C>T	18.37:g.6859874C>T	ENSP00000372964:p.Ala235Val					ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V	p.A76V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			4	444	+		Colorectal(10;0.168)	58					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.227C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		6	585	0	0	0	1	0	6	585					T	6859874	C	T	6859874	3	4	7	1	0	0	0	0	1	0	0	0	877	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		6859874	71217374	84	802											
SMAD4	4089	broad.mit.edu	37	chr18	48591861	48591861	+	Frame_Shift_Del	DEL	C	C	-													taggagagacatttaaggttCcttcaagctgccctattgtt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:48591861delC	ENST00000342988.3	+	9	1562	c.1024delC	c.(1024-1026)cctfs	p.P342fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P246fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	342	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.F339_S343del(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTTAAGGTTCCTTCAAGCTG	0.443																																						ENST00000342988.3																			40	Whole gene deletion(36)|Deletion - In frame(2)|Unknown(2)	p.0?(36)|p.F339_S343del(2)|p.?(2)	pancreas(26)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1024-1026)ctfs		SMAD family member 4							268	229	243					18																	48591861		2203	4300	6503	SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591861delC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1024delC	18.37:g.48591861delC	ENSP00000341551:p.Pro342fs					SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P246fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs	p.P342fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1562	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	342			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1024delC	CCDS11950.1																																																																																				0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		105	347						105	347	---	---	---	---	-	48591861	C	-	48591861	7	5	7	1	0	1	0	1	0	0	0	0	14810	855	30	0	1054	0	SMAD4	18	48591861	Frame_Shift_Del	DEL	C	TCGA-2J-AABE-01A-12D-A40W-08	41731987	48591861	29485387	85	803											
ZNF823	55552	broad.mit.edu	37	chr19	11833554	11833554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgtgagttctctcatgTcttagataggtactgtaatc	10	8	3	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:11833554T>C	ENST00000341191.6	-	4	948	c.795A>G	c.(793-795)agA>agG	p.R265R	ZNF823_ENST00000545749.1_Silent_p.R83R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTCTCATGTCTTAGATAGG	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(793-795)agA>agG		zinc finger protein 823							82	85	84					19																	11833554		2202	4295	6497	SO:0001819	synonymous_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833554T>C	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.795A>G	19.37:g.11833554T>C		HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Silent_p.R83R	p.R265R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	948	-			265					A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	c.795A>G	CCDS45981.1																																																																																				0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		46	264	0	0	0	1	0	46	264					C	11833554	T	C	11833554	2	2	7	1	0	0	0	0	0	0	0	1	18232	1664	58	4		4	ZNF823	19	11833554	Silent	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08		11833554	47295429	86	804											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	697	0	0	0	1	0	8	697					A	12575498	G	A	12575498	3	1	7	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	741944	12575498	46553485	87	805											
ZNF585B	92285	broad.mit.edu	37	chr19	37677113	37677113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtaaacaatttcccacaGtgaccacatttataaggttt	6	8	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:37677113G>T	ENST00000532828.2	-	5	1577	c.1326C>A	c.(1324-1326)caC>caA	p.H442Q	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCCCACAGTGACCACATT	0.393																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1324-1326)caC>caA		zinc finger protein 585B							109	109	109					19																	37677113		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677113G>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1326C>A	19.37:g.37677113G>T	ENSP00000433773:p.His442Gln					ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	p.H442Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1577	-			442					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1326C>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	3.430	-0.116359	0.06881	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.35236	1.32;3.2;3.2	2.35	-0.522	0.11928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.400480	0.18380	N	0.142995	T	0.08626	0.0214	N	0.01576	-0.805	0.21105	N	0.99978	B;B	0.33413	0.013;0.411	B;B	0.28011	0.034;0.085	T	0.28554	-1.0040	10	0.12430	T	0.62	.	3.4191	0.07386	0.1455:0.0:0.4286:0.4259	.	387;442	E9PQH3;Q52M93	.;Z585B_HUMAN	Q	387;442;30	ENSP00000436774:H387Q;ENSP00000433773:H442Q;ENSP00000442139:H30Q	ENSP00000442139:H30Q	H	-	3	2	ZNF585B	42368953	0.000000	0.05858	0.809000	0.32408	0.714000	0.41099	-5.979000	0.00087	-0.158000	0.11040	0.305000	0.20034	CAC		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		105	548	1	0	4.10028e-47	1	4.40589e-47	105	548					T	37677113	G	T	37677113	3	4	7	1	0	0	0	0	1	0	0	0	18071	1020	36	3	987	3	ZNF585B	19	37677113	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	25101615	37677113	21451870	88	806											
LRFN1	57622	broad.mit.edu	37	chr19	39805357	39805357	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcttgtgaagctgcAcgaaggtcccctccgcgatg	13	13	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:39805357A>T	ENST00000248668.4	-	1	619	c.620T>A	c.(619-621)gTg>gAg	p.V207E	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	207						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGAAGCTGCACGAAGGTCCC	0.647																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(619-621)gTg>gAg		leucine rich repeat and fibronectin type III domain containing 1							47	57	54					19																	39805357		2166	4272	6438	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805357A>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.620T>A	19.37:g.39805357A>T	ENSP00000248668:p.Val207Glu					CTC-246B18.8_ENST00000601911.1_RNA	p.V207E	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	619	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		207					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.620T>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596320	0.46318	.	.	ENSG00000128011	ENST00000248668	T	0.55760	0.5	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001584	T	0.26376	0.0644	N	0.01257	-0.925	0.34603	D	0.716756	P	0.39060	0.657	P	0.45232	0.474	T	0.31280	-0.9949	10	0.33141	T	0.24	.	5.8513	0.18694	0.7936:0.0:0.2064:0.0	.	207	Q9P244	LRFN1_HUMAN	E	207	ENSP00000248668:V207E	ENSP00000248668:V207E	V	-	2	0	LRFN1	44497197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	0.810000	0.34279	0.454000	0.30748	GTG		0.647	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		27	72	0	0	0	1	0	27	72					T	39805357	A	T	39805357	3	4	7	1	0	0	0	0	1	0	0	0	8975	159	6	5	1703	5	LRFN1	19	39805357	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	2128244	39805357	19323626	89	807											
PRX	57716	broad.mit.edu	37	chr19	40901352	40901352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcagcccccacccgAgccttggggagtgagatggc	13	15	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:40901352A>G	ENST00000324001.7	-	7	3177	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	969					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCCACCCGAGCCTTGGGGA	0.642																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2905-2907)gcT>gcC		periaxin							56	66	63					19																	40901352		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901352A>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2907T>C	19.37:g.40901352A>G						PRX_ENST00000291825.7_3'UTR	p.A969A	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3177	-			969					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.2907T>C	CCDS33028.1																																																																																				0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		22	437	0	0	0	1	0	22	437					G	40901352	A	G	40901352	2	3	7	1	0	0	0	0	0	0	0	1	12689	291	11	4		4	PRX	19	40901352	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	1095995	40901352	18227631	90	808											
SCAF1	58506	broad.mit.edu	37	chr19	50154632	50154632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcgcagcccacacagcCgactcccgcccctggaacgc	11	20	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:50154632C>T	ENST00000360565.3	+	7	1110	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	329					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCACACAGCCGACTCCCGCC	0.701																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(985-987)cCg>cTg		SR-related CTD-associated factor 1							16	18	17					19																	50154632		2194	4294	6488	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154632C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.986C>T	19.37:g.50154632C>T	ENSP00000353769:p.Pro329Leu						p.P329L	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1110	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	329					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.986C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266252	0.23136	.	.	ENSG00000126461	ENST00000360565	T	0.29655	1.56	4.47	2.21	0.28008	.	0.601209	0.13812	N	0.361016	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.19063	-1.0317	9	.	.	.	-5.2311	6.3384	0.21309	0.185:0.7119:0.0:0.1031	.	329	Q9H7N4	SFR19_HUMAN	L	329	ENSP00000353769:P329L	.	P	+	2	0	SCAF1	54846444	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.543000	0.23237	2.187000	0.69744	0.591000	0.81541	CCG		0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		27	89	0	0	0	1	0	27	89					T	50154632	C	T	50154632	3	4	7	1	0	0	0	0	1	0	0	0	13918	652	23	1	1008	1	SCAF1	19	50154632	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	9253280	50154632	8974351	91	809											
NLRP8	126205	broad.mit.edu	37	chr19	56477724	56477724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtgctgagatcccccCggtgccgtctgcagtgtctc	14	14	2	1	rs183661608	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56477724C>T	ENST00000291971.3	+	5	2430	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	787					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GAGATCCCCCCGGTGCCGTCT	0.542													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17702	0.0		0.0	False		,,,				2504	0.0					ENST00000291971.3																			0				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						c.(2359-2361)Cgg>Tgg		NLR family, pyrin domain containing 8							92	90	91					19																	56477724		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56477724C>T	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.2359C>T	19.37:g.56477724C>T	ENSP00000291971:p.Arg787Trp					NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W	p.R787W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	5	2430	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	787					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2359C>T	CCDS12937.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.834	0.523138	0.13066	.	.	ENSG00000179709	ENST00000291971	T	0.54071	0.59	1.82	0.759	0.18438	.	.	.	.	.	T	0.37293	0.0998	L	0.39898	1.24	0.09310	N	1	B;B	0.27140	0.031;0.169	B;B	0.18871	0.022;0.023	T	0.28933	-1.0028	9	0.56958	D	0.05	.	4.3325	0.11071	0.0:0.7918:0.0:0.2082	.	787;787	Q86W28-2;Q86W28	.;NALP8_HUMAN	W	787	ENSP00000291971:R787W	ENSP00000291971:R787W	R	+	1	2	NLRP8	61169536	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	-0.353000	0.07691	0.313000	0.23062	0.557000	0.71058	CGG		0.542	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		49	255	0	0	0	1	0	49	255					T	56477724	C	T	56477724	3	4	7	1	0	0	0	0	1	0	0	0	10525	643	23	1	2377	1	NLRP8	19	56477724	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	6323092	56477724	2651259	92	810											
ZNF582	147948	broad.mit.edu	37	chr19	56901800	56901800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctgtacaaatccctcTgagcaggtgccaaccactgc	8	15	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56901800T>G	ENST00000301310.4	-	3	238	c.80A>C	c.(79-81)cAg>cCg	p.Q27P	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAAATCCCTCTGAGCAGGTGC	0.483																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(79-81)cAg>cCg		zinc finger protein 582							168	138	148					19																	56901800		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56901800T>G	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.80A>C	19.37:g.56901800T>G	ENSP00000301310:p.Gln27Pro					ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P	p.Q27P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	3	238	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	27			KRAB.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.80A>C	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770086	0.69992	.	.	ENSG00000018869	ENST00000301310	T	0.09538	2.97	4.6	4.6	0.57074	Krueppel-associated box (4);	.	.	.	.	T	0.47691	0.1459	H	0.97564	4.03	0.34108	D	0.662673	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.74284	-0.3715	9	0.87932	D	0	.	13.4023	0.60889	0.0:0.0:0.0:1.0	.	27;58	Q96NG8;B4DQZ9	ZN582_HUMAN;.	P	27	ENSP00000301310:Q27P	ENSP00000301310:Q27P	Q	-	2	0	ZNF582	61593612	1.000000	0.71417	0.985000	0.45067	0.866000	0.49608	5.400000	0.66320	2.054000	0.61138	0.533000	0.62120	CAG		0.483	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		83	402	0	0	0	1	0	83	402					G	56901800	T	G	56901800	3	3	7	1	0	0	0	0	1	0	0	0	18067	1580	55	4	1485	4	ZNF582	19	56901800	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	424076	56901800	2227183	93	811											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		17	669	0	0	0	1	0	17	669					T	11058322	C	T	11058322	1	4	7	0	1	0	0	0	0	0	0	0	1293	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		11058322	37071573	94	812											
RUNX1	861	broad.mit.edu	37	chr21	36171709	36171710	+	Frame_Shift_Ins	INS	-	-	AT													gcaatggatcccaggtattgINSgtaggactgatcgtaggacc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:36171709_36171710insAT	ENST00000344691.4	-	5	2351_2352	c.774_775insAT	c.(772-777)taccaafs	p.Q259fs	RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.Q286fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.Q286fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.Q195fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.Q274fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	259	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CCCAGGTATTGGTAGGACTGAT	0.505			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"		"AML, preB- ALL, T-ALL"		0				breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(772-777)taaatafs		runt-related transcription factor 1																																				SO:0001589	frameshift_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171709_36171710insAT	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.774_775insAT	21.37:g.36171709_36171710insAT	ENSP00000340690:p.Gln259fs					RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.I195fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.I286fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.I274fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.I286fs	p.I259fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			5	2351_2352	-			259			Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	ENST00000344691.4	37	c.774_775insAT	CCDS42922.1																																																																																				0.505	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			14	385						14	385	---	---	---	---	AT	36171710	-	AT	36171709	7	5	7	1	0	1	1	0	0	0	0	0	13796	1357	47	0	594	0	RUNX1	21	36171709	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08	25113387	36171709	11958186	95	813											
HLCS	3141	broad.mit.edu	37	chr21	38269242	38269242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggtctgcagattttggcGatagatctctaagttgaaat	10	6	2	3	rs547391411		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:38269242G>A	ENST00000399120.1	-	7	2599	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	HLCS_ENST00000336648.4_Missense_Mutation_p.R457C|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	457					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGATTTTGGCGATAGATCTCT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20624	0.0		0.0	False		,,,				2504	0.0					ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1369-1371)Cgc>Tgc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						112	98	103					21																	38269242		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38269242G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1369C>T	21.37:g.38269242G>A	ENSP00000382071:p.Arg457Cys					HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.R457C	p.R457C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2599	-		Myeloproliferative disorder(46;0.0422)	457					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1369C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	9.174	1.021978	0.19433	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97066	-4.23;-4.23	5.12	5.12	0.69794	.	0.306610	0.33959	N	0.004385	D	0.94175	0.8131	L	0.49350	1.555	0.29287	N	0.869631	B	0.28713	0.22	B	0.15052	0.012	D	0.90047	0.4146	10	0.38643	T	0.18	.	12.3631	0.55215	0.0:0.0:0.7107:0.2892	.	457	P50747	BPL1_HUMAN	C	457	ENSP00000382071:R457C;ENSP00000338387:R457C	ENSP00000338387:R457C	R	-	1	0	HLCS	37191112	0.984000	0.35163	0.331000	0.25455	0.251000	0.25915	1.925000	0.40074	2.551000	0.86045	0.563000	0.77884	CGC		0.468	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			66	290	0	0	0	1	0	66	290					A	38269242	G	A	38269242	3	1	7	1	0	0	0	0	1	0	0	0	7243	1058	37	1	835	1	HLCS	21	38269242	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	2097533	38269242	9860653	96	814											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970917	45970917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgcagcagacaggcAcacggcaggactgctggcag	14	12	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:45970917A>G	ENST00000391621.1	-	1	471	c.425T>C	c.(424-426)gTg>gCg	p.V142A	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	142	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCAGACAGGCACACGGCAGGA	0.622																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(424-426)gTg>gCg		keratin associated protein 10-2							113	117	116					21																	45970917		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970917A>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.425T>C	21.37:g.45970917A>G	ENSP00000375479:p.Val142Ala					KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.V142A	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	471	-			142			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.425T>C	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	a	10.30	1.311815	0.23821	.	.	ENSG00000205445	ENST00000391621	T	0.00682	5.86	3.47	-5.9	0.02275	.	.	.	.	.	T	0.01092	0.0036	M	0.88377	2.95	0.09310	N	1	B	0.29988	0.264	B	0.26517	0.07	T	0.42430	-0.9452	9	0.29301	T	0.29	.	0.1025	0.00049	0.2866:0.1621:0.2317:0.3196	.	142	P60368	KR102_HUMAN	A	142	ENSP00000375479:V142A	ENSP00000375479:V142A	V	-	2	0	KRTAP10-2	44795345	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.606000	0.05654	-0.637000	0.05516	0.368000	0.22195	GTG		0.622	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			15	526	0	0	0	1	0	15	526					G	45970917	A	G	45970917	3	3	7	1	0	0	0	0	1	0	0	0	8539	159	6	4	346	4	KRTAP10-2	21	45970917	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	7701675	45970917	2158978	97	815											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	12	11	1	2	rs141527317	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000439308.2_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74	68	70		3576	-9.2	0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	334	0	0	0	1	0	6	334					G	50659212	A	G	50659212	2	3	7	1	0	0	0	0	0	0	0	1	16824	175	7	4		4	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08		50659212	645354	98	816											
ATRX	546	broad.mit.edu	37	chrX	76931742	76931744	+	In_Frame_Del	DEL	TCA	TCA	-													tattctcaggatcattgtcgTcatcatcatcatccactgtg							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:76931742_76931744delTCA	ENST00000373344.5	-	10	4000_4002	c.3786_3788delTGA	c.(3784-3789)gatgac>gac	p.1262_1263DD>D	ATRX_ENST00000395603.3_In_Frame_Del_p.1224_1225DD>D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1262	Interaction with DAXX.|Poly-Asp.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCATTGTCGTCATCATCATCAT	0.379			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3784-3789)gac>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76931742_76931744delTCA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3786_3788delTGA	X.37:g.76931751_76931753delTCA	ENSP00000362441:p.Asp1264del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.DD1224del	p.DD1262del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			10	4000_4002	-			1262			Poly-Asp.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.3786_3788delTGA	CCDS14434.1																																																																																				0.379	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	391						7	391	---	---	---	---	-	76931744	TCA	-	76931742	7	5	7	1	0	1	0	1	0	0	0	0	1209	1667	58	0	3794	0	ATRX	23	76931742	In_Frame_Del	DEL	TCA	TCGA-2J-AABE-01A-12D-A40W-08		76931742	78338818	99	817											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		15	530						15	530	---	---	---	---	-	102004421	GAG	-	102004419	7	5	7	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-2J-AABE-01A-12D-A40W-08	25072677	102004419	53266141	100	818											
ACTRT1	139741	broad.mit.edu	37	chrX	127185142	127185142	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgaaactgctcatagaGgtcatgatggatgcaccaat	10	8	2	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:127185142G>T	ENST00000371124.3	-	1	1240	c.1044C>A	c.(1042-1044)acC>acA	p.T348T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGCTCATAGAGGTCATGATGG	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(1042-1044)acC>acA		actin-related protein T1							170	136	148					X																	127185142		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185142G>T	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.1044C>A	X.37:g.127185142G>T							p.T348T	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1240	-			348					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.1044C>A	CCDS14611.1																																																																																				0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	296	1	0	0.000602214	1	0.000605716	5	296					T	127185142	G	T	127185142	2	4	7	1	0	0	0	0	0	0	0	1	218	987	35	3		3	ACTRT1	23	127185142	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	25180723	127185142	28085418	101	819											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-													ctgacaatcttacctcatcaTtttttttgttattggattca							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221	189	200					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		9	389						9	389	---	---	---	---	-	142605149	T	-	142605149	7	5	7	1	0	1	0	1	0	0	0	0	15044	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-2J-AABE-01A-12D-A40W-08	15420007	142605149	12665411	102	820											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	368						7	368	---	---	---	---	-	150817144	GCT	-	150817142	7	5	7	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-2J-AABE-01A-12D-A40W-08	8211993	150817142	4453418	103	821											
CORT	1325	broad.mit.edu	37	chr1	10510135	10510135	+	5'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggcgttagacatgtAtagacacaaaaacagctgga	10	8	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:10510135A>C	ENST00000377049.3	+	0	360				APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|CORT_ENST00000320498.4_Missense_Mutation_p.Y2S|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TTAGACATGTATAGACACAAA	0.512																																						ENST00000320498.4																			0				breast(1)|endometrium(1)|stomach(1)	3						c.(4-6)tAt>tCt		cortistatin							128	139	135					1																	10510135		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325							g.chr1:10510135A>C	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-146A>C	1.37:g.10510135A>C						APITD1_ENST00000602296.1_Intron|CORT_ENST00000377049.3_5'UTR|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron	p.Y2S						UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)	1	165	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.5A>C	CCDS117.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277818	0.59758	.	.	ENSG00000241563	ENST00000320498	.	.	.	5.32	-2.57	0.06248	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39623	-0.9605	5	0.87932	D	0	-4.2934	3.4673	0.07554	0.4045:0.0:0.315:0.2806	.	.	.	.	S	2	.	ENSP00000317110:Y2S	Y	+	2	0	CORT	10432722	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	0.076000	0.14712	-0.803000	0.04415	0.533000	0.62120	TAT		0.512	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		56	631	0	0	0	1	0	56	631					C	10510135	A	C	10510135	1	2	8	0	1	0	0	0	0	0	0	0	3769	449	16	4		4	CORT	1	10510135	5'UTR	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08		10510135	238740486	1	822											
UBR4	23352	broad.mit.edu	37	chr1	19505631	19505631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaggaggcgtgaaagCacagagaggctttgagggtg	18	5	0	4			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375254.3	-	18	2295	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	756					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCGTGAAAGCACAGAGAGGC	0.507																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2266-2268)gtG>gtA		ubiquitin protein ligase E3 component n-recognin 4							136	127	130					1																	19505631		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19505631C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2268G>A	1.37:g.19505631C>T						UBR4_ENST00000375254.3_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V	p.V756V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	18	2271	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	756					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.2268G>A	CCDS189.1																																																																																				0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		65	404	0	0	0	1	0	65	404					T	19505631	C	T	19505631	2	4	8	1	0	0	0	0	0	0	0	1	16958	697	25	2		2	UBR4	1	19505631	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	8995496	19505631	229744990	2	823											
HSPG2	3339	broad.mit.edu	37	chr1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgagcagcatctcctgaatCtgagccccatccgcattccc	7	17	2	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	160	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)			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)	TCTCCTGAATCTGAGCCCCAT	0.622																																						ENST00000374695.3																			0				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						c.(478-480)caG>caC		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						175	153	161					1																	22216568		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216568C>G	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.480G>C	1.37:g.22216568C>G	ENSP00000363827:p.Gln160His						p.Q160H	NM_005529.5	NP_005520.4	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)	6	559	-		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)	160			SEA.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.480G>C	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.51|15.51	2.856016|2.856016	0.51376|0.51376	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	T;T|T	0.76186|0.54675	-1.0;0.77|0.56	5.44|5.44	4.53|4.53	0.55603|0.55603	SEA (2);|.	0.000000|.	0.37857|.	N|.	0.001913|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.29908|0.29908	0.895|0.895	0.51233|0.51233	D|D	0.999914|0.999914	D|D	0.67145|0.89917	0.996|1.0	D|D	0.64042|0.71656	0.921|0.974	T|T	0.62576|0.62576	-0.6825|-0.6825	10|9	0.87932|0.72032	D|D	0|0.01	.|.	11.8428|11.8428	0.52364|0.52364	0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839	.|.	160|83	P98160|Q5SZI5	PGBM_HUMAN|.	H|T	160;126|83	ENSP00000363827:Q160H;ENSP00000395884:Q126H|ENSP00000405412:R83T	ENSP00000363827:Q160H|ENSP00000405412:R83T	Q|R	-|-	3|2	2|0	HSPG2|HSPG2	22089155|22089155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.067000|0.067000	0.16453|0.16453	5.185000|5.185000	0.65076|0.65076	1.533000|1.533000	0.49186|0.49186	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		19	425	0	0	0	1	0	19	425					G	22216568	C	G	22216568	3	3	8	1	0	0	0	0	1	0	0	0	7460	912	32	5	13063	5	HSPG2	1	22216568	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	2710937	22216568	227034053	3	824											
HSPG2	3339	broad.mit.edu	37	chr1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccgagcccacatccagctCcacaaaaacccagccatcca	4	19	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)			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)	ACATCCAGCTCCACAAAAACC	0.617																																						ENST00000374695.3																			0				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						c.(439-441)Gag>Tag		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						139	124	129					1																	22216609		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216609C>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.439G>T	1.37:g.22216609C>A	ENSP00000363827:p.Glu147*						p.E147*	NM_005529.5	NP_005520.4	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)	6	518	-		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)	147			SEA.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.439G>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666493|4.666493	0.88251|0.88251	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	.|T	.|0.55413	.|0.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40385|.	N|.	0.001116|.	.|T	.|0.73187	.|0.3555	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	.|T	.|0.75659	.|-0.3241	.|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8112|16.8112	0.85720|0.85720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69	.|Q5SZI5	.|.	X|C	147;113|69	.|ENSP00000405412:W69C	ENSP00000363827:E147X|ENSP00000405412:W69C	E|W	-|-	1|3	0|0	HSPG2|HSPG2	22089196|22089196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.844000|6.844000	0.75390|0.75390	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		19	373	1	0	5.73435e-26	1	6.31674e-26	19	373					A	22216609	C	A	22216609	4	1	8	1	0	0	0	0	0	1	0	0	7460	864	30	3	13104	3	HSPG2	1	22216609	Nonsense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	41	22216609	227034012	4	825											
GRIK3	2899	broad.mit.edu	37	chr1	37346362	37346362	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtccttgttgtccagCgggtggtgcttccaacgcag	14	10	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	141					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTGTCCAGCGGGTGGTGCT	0.612																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(421-423)ccG>ccT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						288	246	260					1																	37346362		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346362C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.423G>T	1.37:g.37346362C>A						GRIK3_ENST00000373093.4_Silent_p.P141P	p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	439	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	141					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.423G>T	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		30	207	1	0	2.61193e-14	1	2.83294e-14	30	207					A	37346362	C	A	37346362	2	1	8	1	0	0	0	0	0	0	0	1	6805	755	27	3		3	GRIK3	1	37346362	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	15129753	37346362	211904259	5	826											
LRP8	7804	broad.mit.edu	37	chr1	53728211	53728211	+	Frame_Shift_Del	DEL	C	C	-													tttctcaatcttggcctggtCcccccagtcagaccaataca							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:53728211delC	ENST00000306052.6	-	11	1782	c.1681delG	c.(1681-1683)gacfs	p.D561fs	LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TTGGCCTGGTCCCCCCAGTCA	0.512																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1681-1683)acfs		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							209	210	210					1																	53728211		2203	4300	6503	SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728211delC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1681delG	1.37:g.53728211delC	ENSP00000303634:p.Asp561fs					LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs	p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1782	-			561					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Del	DEL	ENST00000306052.6	37	c.1681delG	CCDS578.1																																																																																				0.512	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		8	1202						8	1202	---	---	---	---	-	53728211	C	-	53728211	7	5	8	1	0	1	0	1	0	0	0	0	9001	855	30	0	1246	0	LRP8	1	53728211	Frame_Shift_Del	DEL	C	TCGA-2J-AABF-01A-31D-A40W-08	16381849	53728211	195522410	6	827											
NES	10763	broad.mit.edu	37	chr1	156640920	156640920	+	Frame_Shift_Del	DEL	T	T	-													tcaaccaggcctctctgctcTttgggctcagggctctctgg							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:156640920delT	ENST00000368223.3	-	4	3192	c.3060delA	c.(3058-3060)aaafs	p.K1020fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1020	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)			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)					CTCTCTGCTCTTTGGGCTCAG	0.647																																						ENST00000368223.3																			0				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						c.(3058-3060)aafs		nestin							134	148	143					1																	156640920		2203	4300	6503	SO:0001589	frameshift_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.chr1:156640920delT	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.3060delA	1.37:g.156640920delT	ENSP00000357206:p.Lys1020fs						p.K1020fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3192	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1020			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.3060delA	CCDS1151.1																																																																																				0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	1212						7	1212	---	---	---	---	-	156640920	T	-	156640920	7	5	8	1	0	1	0	1	0	0	0	0	10379	1606	56	0	1809	0	NES	1	156640920	Frame_Shift_Del	DEL	T	TCGA-2J-AABF-01A-31D-A40W-08	102912709	156640920	92609701	7	828											
CD1D	912	broad.mit.edu	37	chr1	158153826	158153826	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtttaagaggcaaacGtaagtctcccctttcccttt	7	13	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512																																						ENST00000368171.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.e6+1		CD1d molecule							340	309	320					1																	158153826		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153826G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1G>A	1.37:g.158153826G>A								NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)							D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	37		CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Intron	43	466	0	0	0	1	0	43	466					A	158153826	G	A	158153826	5	1	8	1	0	0	0	0	0	0	1	0	2986	1159	40	1	1005	1	CD1D	1	158153826	Splice_Site	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1512906	158153826	91096795	8	829											
PYHIN1	149628	broad.mit.edu	37	chr1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgactcttctgctttcGactgagaaagagggaaaata	10	8	2	2	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	378	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCTGCTTTCGACTGAGAAAG	0.363																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1132-1134)cGa>cAa		pyrin and HIN domain family, member 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	82	83	82		1133,1106,1133,1106	0.6	0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense,missense,missense	PYHIN1	NM_152501.4,NM_198928.4,NM_198929.4,NM_198930.3	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	378/493,369/484,378/462,369/453	158913710	3,13003	2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913710G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1133G>A	1.37:g.158913710G>A	ENSP00000357122:p.Arg378Gln					PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q	p.R378Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1378	+	all_hematologic(112;0.0378)		378			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1133G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185136	0.01620	6.81E-4	0.0	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	3.13	0.627	0.17675	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01523	0.0049	N	0.21142	0.635	0.09310	N	1	P;P;P;P	0.44429	0.703;0.688;0.703;0.835	B;B;B;B	0.28638	0.023;0.055;0.023;0.092	T	0.45011	-0.9290	9	0.18710	T	0.47	.	5.1931	0.15220	0.7652:0.0:0.2348:0.0	.	369;378;369;378	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	378;369;378;369	ENSP00000357122:R378Q;ENSP00000357120:R369Q;ENSP00000376083:R378Q;ENSP00000376082:R369Q	ENSP00000357120:R369Q	R	+	2	0	PYHIN1	157180334	0.001000	0.12720	0.006000	0.13384	0.046000	0.14306	1.336000	0.33850	-0.002000	0.14469	-0.150000	0.13652	CGA		0.363	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	257	0	0	0	1	0	8	257					A	158913710	G	A	158913710	3	1	8	1	0	0	0	0	1	0	0	0	12915	1058	37	1	1151	1	PYHIN1	1	158913710	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	759884	158913710	90336911	9	830											
DDR2	4921	broad.mit.edu	37	chr1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatgtttgaatttgaccGcatcaggaatttcactacca	7	9	3	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	277					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)			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)	GAATTTGACCGCATCAGGAAT	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(829-831)cGc>cAc		discoidin domain receptor tyrosine kinase 2							103	96	98					1																	162729744		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162729744G>A	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.830G>A	1.37:g.162729744G>A	ENSP00000356899:p.Arg277His					DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		9	1268	+	all_hematologic(112;0.115)		277					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.830G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970789	0.74246	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.56776	0.44;0.44	5.6	4.69	0.59074	.	0.048244	0.85682	D	0.000000	T	0.27832	0.0685	L	0.46670	1.46	0.39846	D	0.973175	B	0.34241	0.444	B	0.24701	0.055	T	0.24905	-1.0147	9	0.51188	T	0.08	.	13.4248	0.61020	0.0763:0.0:0.9237:0.0	.	277	Q16832	DDR2_HUMAN	H	277	ENSP00000356899:R277H;ENSP00000356898:R277H	ENSP00000356898:R277H	R	+	2	0	DDR2	160996368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	1.368000	0.46115	0.549000	0.68633	CGC		0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		5	297	0	0	0	1	0	5	297					A	162729744	G	A	162729744	3	1	8	1	0	0	0	0	1	0	0	0	4348	1087	38	1	852	1	DDR2	1	162729744	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	3816034	162729744	86520877	10	831											
PRG4	10216	broad.mit.edu	37	chr1	186276168	186276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCcccaagaagcctgccccaac	7	20	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				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						c.(1315-1317)acC>acT		proteoglycan 4							77	84	82					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>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.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	366	0	0	0	1	0	5	366					T	186276168	C	T	186276168	2	4	8	1	0	0	0	0	0	0	0	1	12528	610	22	2		2	PRG4	1	186276168	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	23546424	186276168	62974453	11	832											
LBR	3930	broad.mit.edu	37	chr1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaccacttcaccatcgGcaaatttcctacttggcatt	4	14	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(19-21)gCc>gTc		lamin B receptor							229	252	245					1																	225611758		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611758G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.20C>T	1.37:g.225611758G>A	ENSP00000339883:p.Ala7Val					LBR_ENST00000272163.4_Missense_Mutation_p.A7V	p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	145	-	Breast(184;0.165)		7			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.20C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112372	0.56398	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97041	-4.22;-4.22;0.44	5.51	4.58	0.56647	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.361768	0.29145	N	0.013017	D	0.93138	0.7815	N	0.19112	0.55	0.33255	D	0.558951	B;B	0.24258	0.1;0.02	B;B	0.28916	0.096;0.017	D	0.92783	0.6242	10	0.35671	T	0.21	-12.0216	12.7545	0.57325	0.0778:0.0:0.9222:0.0	.	7;7	C9JXK0;Q14739	.;LBR_HUMAN	V	7	ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V	ENSP00000272163:A7V	A	-	2	0	LBR	223678381	0.999000	0.42202	0.893000	0.35052	0.970000	0.65996	3.148000	0.50647	1.285000	0.44548	0.655000	0.94253	GCC		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		8	1542	0	0	0	1	0	8	1542					A	225611758	G	A	225611758	3	1	8	1	0	0	0	0	1	0	0	0	8683	1203	42	2	1879	2	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	39335590	225611758	23638863	12	833											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132	118	122					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T							p.R647R	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		5	474	0	0	0	1	0	5	474					T	226037743	C	T	226037743	2	4	8	1	0	0	0	0	0	0	0	1	16242	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	425985	226037743	23212878	13	834											
RYR2	6262	broad.mit.edu	37	chr1	237550598	237550598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacttgtcttatggcaaCggcagcttacacgtggatgc	11	11	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			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)			CTTATGGCAACGGCAGCTTAC	0.498																																						ENST00000366574.2																			0				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						c.(592-594)aaC>aaT		ryanodine receptor 2 (cardiac)							113	114	114					1																	237550598		2003	4178	6181	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.chr1:237550598C>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.594C>T	1.37:g.237550598C>T						RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	p.N198N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	911	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	198			MIR 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.594C>T	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		55	346	0	0	0	1	0	55	346					T	237550598	C	T	237550598	2	4	8	1	0	0	0	0	0	0	0	1	13819	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11512855	237550598	11700023	14	835											
PGBD2	267002	broad.mit.edu	37	chr1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttccggagatacattgCctgtgtgtatctggagagca	12	9	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000329291.5	+	3	1709	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	521										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGATACATTGCCTGTGTGTAT	0.532																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(808-810)gCc>gTc		piggyBac transposable element derived 2							112	97	102					1																	249212345		2203	4300	6503	SO:0001583	missense	0							g.chr1:249212345C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1562C>T	1.37:g.249212345C>T	ENSP00000331643:p.Ala521Val					PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000329291.5_Missense_Mutation_p.A521V	p.A270V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1079	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	521					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.809C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.299979	0.23650	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14893	2.47;2.67;2.67	3.05	3.05	0.35203	.	0.122356	0.33650	N	0.004692	T	0.15392	0.0371	N	0.04018	-0.295	0.30874	N	0.73219	P;D	0.76494	0.778;0.999	B;D	0.80764	0.262;0.994	T	0.06092	-1.0846	10	0.14656	T	0.56	.	9.8324	0.40950	0.0:1.0:0.0:0.0	.	518;521	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	270;521;518	ENSP00000355424:A270V;ENSP00000331643:A521V;ENSP00000439950:A518V	ENSP00000331643:A521V	A	+	2	0	PGBD2	247178968	0.994000	0.37717	0.937000	0.37676	0.055000	0.15305	1.573000	0.36472	1.999000	0.58509	0.467000	0.42956	GCC		0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			5	263	0	0	0	1	0	5	263					T	249212345	C	T	249212345	3	4	8	1	0	0	0	0	1	0	0	0	11823	739	26	2	1568	2	PGBD2	1	249212345	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11661747	249212345	38276	15	836											
TPO	7173	broad.mit.edu	37	chr2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagttctgcggcctgcctCgcctggagacccccgctgac	14	16	1	2	rs372225161		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)Cgc>Tgc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	52	48	49		1804,1804,1633,1633,1804,1285	-0.9	0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497609	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497609C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1804C>T	2.37:g.1497609C>T	ENSP00000318820:p.Arg602Cys					TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000497517.2_3'UTR	p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1895	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	602					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1804C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795939	0.31777	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.84	-0.86	0.10680	.	0.089088	0.64402	D	0.000001	D	0.84552	0.5497	H	0.94306	3.52	0.19300	N	0.999975	D;D;D;D	0.89917	1.0;0.967;1.0;1.0	D;B;D;D	0.78314	0.984;0.386;0.976;0.991	T	0.75462	-0.3309	10	0.87932	D	0	-13.2581	7.6609	0.28402	0.4098:0.4419:0.1484:0.0	.	602;429;545;602	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	602;602;602;429;602;545;429;531;76	ENSP00000337263:R602C;ENSP00000318820:R602C;ENSP00000263886:R602C;ENSP00000332044:R429C;ENSP00000329869:R602C;ENSP00000371636:R545C;ENSP00000371633:R429C;ENSP00000405788:R531C;ENSP00000419461:R76C	ENSP00000329869:R602C	R	+	1	0	TPO	1476616	0.002000	0.14202	0.000000	0.03702	0.088000	0.18126	1.273000	0.33121	-0.338000	0.08413	0.561000	0.74099	CGC		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		14	92	0	0	0	1	0	14	92					T	1497609	C	T	1497609	3	4	8	1	0	0	0	0	1	0	0	0	16463	884	31	1	1842	1	TPO	2	1497609	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		1497609	241701764	16	837											
TMEM17	200728	broad.mit.edu	37	chr2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaactgattaaccattTtccttaaggtaagaaatgct	6	9	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	164					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATTAACCATTTTCCTTAAGGT	0.428																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(490-492)aAa>aCa		transmembrane protein 17							138	135	136					2																	62728450		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62728450T>G		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.491A>C	2.37:g.62728450T>G	ENSP00000335094:p.Lys164Thr						p.K164T	NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		4	702	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		164					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.491A>C	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183817	0.21870	.	.	ENSG00000186889	ENST00000335390	T	0.46451	0.87	5.6	4.46	0.54185	.	0.339048	0.37577	N	0.002032	T	0.23532	0.0569	N	0.17082	0.46	0.31589	N	0.654104	B	0.10296	0.003	B	0.15052	0.012	T	0.22556	-1.0213	10	0.15066	T	0.55	-10.2028	8.2015	0.31428	0.0:0.1897:0.0:0.8103	.	164	Q86X19	TMM17_HUMAN	T	164	ENSP00000335094:K164T	ENSP00000335094:K164T	K	-	2	0	TMEM17	62581954	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.866000	0.39489	0.988000	0.38734	0.528000	0.53228	AAA		0.428	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		8	334	0	0	0	1	0	8	334					G	62728450	T	G	62728450	3	3	8	1	0	0	0	0	1	0	0	0	16137	1841	64	4	109	4	TMEM17	2	62728450	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	61230841	62728450	180470923	17	838											
FAHD2B	151313	broad.mit.edu	37	chr2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccactgtttcccattgCgtcttgttagccagtcacga	9	13	2	0	rs138523783	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	200							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTTCCCATTGCGTCTTGTTAG	0.597																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(598-600)cGc>cAc		fumarylacetoacetate hydrolase domain containing 2B		C	HIS/ARG	0,4406		0,0,2203	135	118	124		599	0.6	0.5	2	dbSNP_134	124	5,8595	4.3+/-15.6	0,5,4295	no	missense	FAHD2B	NM_199336.1	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	200/315	97751522	5,13001	2203	4300	6503	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97751522C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.599G>A	2.37:g.97751522C>T	ENSP00000410470:p.Arg200His					FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H	p.R200H			Q6P2I3	FAH2B_HUMAN			6	869	-			200					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.599G>A	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004787	0.35320	0.0	5.81E-4	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94758	-3.51;-3.51;-3.51	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.122834	0.49916	N	0.000132	D	0.94666	0.8280	M	0.62088	1.915	0.41529	D	0.988442	D	0.89917	1.0	D	0.74348	0.983	D	0.91640	0.5326	10	0.59425	D	0.04	.	3.009	0.06038	0.0:0.6463:0.0:0.3537	.	200	Q6P2I3	FAH2B_HUMAN	H	200	ENSP00000410470:R200H;ENSP00000272610:R200H;ENSP00000444599:R200H	ENSP00000272610:R200H	R	-	2	0	FAHD2B	97115249	0.695000	0.27747	0.493000	0.27502	0.135000	0.20990	2.196000	0.42686	0.587000	0.29643	0.306000	0.20318	CGC		0.597	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		22	317	0	0	0	1	0	22	317					T	97751522	C	T	97751522	3	4	8	1	0	0	0	0	1	0	0	0	5395	768	27	1	361	1	FAHD2B	2	97751522	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	35023072	97751522	145447851	18	839											
SCN9A	6335	broad.mit.edu	37	chr2	167168078	167168078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccgggaggaatgtccccAtagatgaagggcagctgttt	14	8	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000409435.1	-	1	188	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGTCCCCATAGATGAAGG	0.473																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(187-189)taT>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						91	99	97					2																	167168078		2108	4270	6378	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168078A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.189T>C	2.37:g.167168078A>G						SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y	p.Y63Y			Q15858	SCN9A_HUMAN			2	529	-			63					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.189T>C	CCDS46441.1																																																																																				0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		19	223	0	0	0	1	0	19	223					G	167168078	A	G	167168078	2	3	8	1	0	0	0	0	0	0	0	1	13975	224	8	4		4	SCN9A	2	167168078	Silent	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08	69416556	167168078	76031295	19	840											
TTN	7273	broad.mit.edu	37	chr2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgcagagccatttaatcGacaagtgagtgtaacaggta	13	6	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000591111.1	-	75	21594	c.21370C>T	c.(21370-21372)Cga>Tga	p.R7124*	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12700	Ig-like 53.				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.R6197*(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)			CCATTTAATCGACAAGTGAGT	0.418																																						ENST00000589042.1																			1	Substitution - Nonsense(1)	p.R6197*(1)	endometrium(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						c.(22321-22323)Cga>Tga		titin							94	91	92					2																	179587193		1865	4122	5987	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587193G>A	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.21370C>T	2.37:g.179587193G>A	ENSP00000465570:p.Arg7124*					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.R7441*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	22545	-			7124	S -> N (in Ref. 1; CAA62189).		Ig-like 56.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.22321C>T		.	.	.	.	.	.	.	.	.	.	G	58	31.894429	0.99979	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2951	0.82767	0.0:0.0:0.8666:0.1334	.	.	.	.	X	6197	.	ENSP00000343764:R6197X	R	-	1	2	TTN	179295438	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.754000	0.55189	1.458000	0.47871	0.650000	0.86243	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	274	0	0	0	1	0	42	274					A	179587193	G	A	179587193	4	1	8	1	0	0	0	0	0	1	0	0	16789	1066	37	1	82352	1	TTN	2	179587193	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	12419115	179587193	63612180	20	841											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagcacaacagcttgccCggcgggtctcccttgtgctt	10	14	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	964					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.P964L(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						ACAGCTTGCCCGGCGGGTCTC	0.502																																						ENST00000264380.4																			1	Substitution - Missense(1)	p.P964L(1)	large_intestine(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						c.(2890-2892)cCg>cTg		phosphoinositide kinase, FYVE finger containing							66	65	65					2																	209190426		2203	4300	6503	SO:0001583	missense	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.chr2:209190426C>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.2891C>T	2.37:g.209190426C>T	ENSP00000264380:p.Pro964Leu						p.P964L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	3049	+			964					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2891C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	6.701	0.498060	0.12762	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.27890	1.64;1.81	6.07	4.22	0.49857	.	0.284775	0.28187	N	0.016268	T	0.23926	0.0579	L	0.56769	1.78	0.52099	D	0.999943	B;B	0.28880	0.226;0.031	B;B	0.17098	0.017;0.006	T	0.05533	-1.0879	10	0.21014	T	0.42	-1.1002	6.4434	0.21863	0.1432:0.6971:0.0:0.1596	.	964;908	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	L	964;540;908	ENSP00000264380:P964L;ENSP00000405736:P908L	ENSP00000264380:P964L	P	+	2	0	PIKFYVE	208898671	0.000000	0.05858	0.381000	0.26106	0.040000	0.13550	0.619000	0.24388	0.830000	0.34757	0.650000	0.86243	CCG		0.502	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		28	246	0	0	0	1	0	28	246					T	209190426	C	T	209190426	3	4	8	1	0	0	0	0	1	0	0	0	11966	652	23	1	2976	1	PIKFYVE	2	209190426	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	29603233	209190426	34008947	21	842											
SPEG	10290	broad.mit.edu	37	chr2	220312960	220312960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggaagaagtccaagtcGtccgggccctccctggcggg	16	13	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	360					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(1078-1080)tcG>tcA		SPEG complex locus							15	19	18					2																	220312960		1948	4099	6047	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312960G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1080G>A	2.37:g.220312960G>A						SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	p.S360S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1212	+		Renal(207;0.0183)	360					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.1080G>A	CCDS42824.1																																																																																				0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		11	109	0	0	0	1	0	11	109					A	220312960	G	A	220312960	2	1	8	1	0	0	0	0	0	0	0	1	15088	1132	40	1		1	SPEG	2	220312960	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	11122534	220312960	22886413	22	843											
SLC25A38	54977	broad.mit.edu	37	chr3	39431021	39431021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttcctgtgtggctcCatcagtgggacctgctctac	11	12	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTGGCTCCATCAGTGGGA	0.512																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(103-105)tcC>tcT		solute carrier family 25, member 38							211	175	187					3																	39431021		2203	4300	6503	SO:0001819	synonymous_variant	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39431021C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.105C>T	3.37:g.39431021C>T							p.S35S	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	2	482	+			35						Silent	SNP	ENST00000273158.4	37	c.105C>T	CCDS2685.1																																																																																				0.512	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		18	306	0	0	0	1	0	18	306					T	39431021	C	T	39431021	2	4	8	1	0	0	0	0	0	0	0	1	14552	581	21	2		2	SLC25A38	3	39431021	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		39431021	158591409	23	844											
DRD3	1814	broad.mit.edu	37	chr3	113850098	113850098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaagctgagcttgggCgctatggtgggactcaggga	15	8	2	1	rs201118680	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000460779.1	-	7	1162	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000383673.2_Silent_p.A291A	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	291					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18832	0.001		0.0	False		,,,				2504	0.0					ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(871-873)gcG>gcA		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	T	,	0,4406		0,0,2203	194	199	198		873,	-3.8	0.9	3		198	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	DRD3	NM_000796.3,NM_033663.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	291/401,	113850098	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850098C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.873G>A	3.37:g.113850098C>T						DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000460779.1_Silent_p.A291A	p.A291A	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			6	1303	-			291					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.873G>A	CCDS2978.1																																																																																				0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		46	576	0	0	0	1	0	46	576					T	113850098	C	T	113850098	2	4	8	1	0	0	0	0	0	0	0	1	4774	755	27	1		1	DRD3	3	113850098	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	74419077	113850098	84172332	24	845											
SLC41A3	54946	broad.mit.edu	37	chr3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatacgtaccacatatgaCgggggtaaatatcgccatgc	9	10	0	1	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000315891.6	-	8	1199	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCACATATGACGGGGGTAAAT	0.517																																						ENST00000383598.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(883-885)Gtc>Atc		solute carrier family 41, member 3		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	217	183	194		961,853,883,610,961	-0.3	0.1	3	dbSNP_134	194	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign,benign	321/508,285/472,295/462,204/371,321/488	125734346	3,13003	2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125734346C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.961G>A	3.37:g.125734346C>T	ENSP00000326070:p.Val321Ile					SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I	p.V295I	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	7	1168	-			321					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.883G>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	5.067	0.198048	0.09652	0.0	3.49E-4	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.54	-0.338	0.12651	MgtE magnesium transporter, integral membrane (1);	0.251067	0.38326	N	0.001725	T	0.13884	0.0336	N	0.13327	0.33	0.40992	D	0.984868	B;B;B;B;B	0.30851	0.012;0.113;0.074;0.297;0.021	B;B;B;B;B	0.28305	0.021;0.062;0.036;0.088;0.023	T	0.10451	-1.0629	10	0.30854	T	0.27	-0.0495	7.2713	0.26258	0.0:0.4217:0.0:0.5783	.	204;321;285;321;295	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	I	321;285;295;312;321;204	ENSP00000353533:V321I;ENSP00000264471:V285I;ENSP00000373092:V295I;ENSP00000326070:V321I;ENSP00000427409:V204I	ENSP00000326070:V321I	V	-	1	0	SLC41A3	127217036	0.137000	0.22531	0.054000	0.19295	0.012000	0.07955	0.556000	0.23438	-0.177000	0.10690	-0.218000	0.12543	GTC		0.517	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		27	292	0	0	0	1	0	27	292					T	125734346	C	T	125734346	3	4	8	1	0	0	0	0	1	0	0	0	14681	536	19	1	680	1	SLC41A3	3	125734346	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11884248	125734346	72288084	25	846											
COL6A6	131873	broad.mit.edu	37	chr3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcagattggaccagatcGggtgcaaattggtgtagtcc	13	8	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4. {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.R658L(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						GGACCAGATCGGGTGCAAATT	0.413																																						ENST00000358511.6																			1	Substitution - Missense(1)	p.R658L(1)	lung(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						c.(1972-1974)cGg>cAg		collagen, type VI, alpha 6							168	161	163					3																	130287020		1892	4110	6002	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287020G>A	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.1973G>A	3.37:g.130287020G>A	ENSP00000351310:p.Arg658Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			5	2004	+			658			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1973G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201344	0.06219	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.53	3.16	0.36331	von Willebrand factor, type A (3);	0.395727	0.21379	N	0.075504	T	0.58736	0.2143	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.35450	-0.9788	10	0.12103	T	0.63	.	6.1506	0.20310	0.4135:0.0:0.5865:0.0	.	658	A6NMZ7	CO6A6_HUMAN	Q	658	ENSP00000351310:R658Q;ENSP00000399236:R658Q	ENSP00000351310:R658Q	R	+	2	0	COL6A6	131769710	0.000000	0.05858	0.128000	0.21923	0.040000	0.13550	0.092000	0.15066	1.096000	0.41439	0.655000	0.94253	CGG		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		37	451	0	0	0	1	0	37	451					A	130287020	G	A	130287020	3	1	8	1	0	0	0	0	1	0	0	0	3712	1116	39	1	1991	1	COL6A6	3	130287020	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	4552674	130287020	67735410	26	847											
CRMP1	1400	broad.mit.edu	37	chr4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattcctgattttgacgcGctggtacaggtgctccggga	12	10	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000397890.2	-	12	1655	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C|EVC_ENST00000382674.2_Intron	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATTTTGACGCGCTGGTACAGG	0.592																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1783-1785)Cgc>Tgc		collapsin response mediator protein 1							99	82	88					4																	5830236		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5830236G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1441C>T	4.37:g.5830236G>A	ENSP00000380987:p.Arg481Cys					CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.R481C	p.R595C	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	12	1871	-			481					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1783C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378726	0.82682	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.87029	-2.2;-2.13;-2.13	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	0.99;0.995;0.99;1.0	P;P;P;D	0.97110	0.839;0.636;0.807;1.0	D	0.95043	0.8180	10	0.72032	D	0.01	-32.1342	15.9993	0.80280	0.0:0.0:1.0:0.0	.	595;479;481;418	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	595;481;481;479	ENSP00000321606:R595C;ENSP00000380987:R481C;ENSP00000425742:R479C	ENSP00000321606:R595C	R	-	1	0	CRMP1	5881137	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.184000	0.94893	2.245000	0.73994	0.561000	0.74099	CGC		0.592	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		7	113	0	0	0	1	0	7	113					A	5830236	G	A	5830236	3	1	8	1	0	0	0	0	1	0	0	0	3899	1087	38	1	289	1	CRMP1	4	5830236	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		5830236	185324040	27	848											
GABRB1	2560	broad.mit.edu	37	chr4	47427807	47427807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtactcctatgacagCgccagcatccagtaccgcaa	7	15	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	399					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTATGACAGCGCCAGCATCC	0.657																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1195-1197)agC>agT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						46	52	50					4																	47427807		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427807C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1197C>T	4.37:g.47427807C>T						GABRB1_ENST00000538619.1_Silent_p.S329S	p.S399S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1489	+			399					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1197C>T	CCDS3474.1																																																																																				0.657	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			22	180	0	0	0	1	0	22	180					T	47427807	C	T	47427807	2	4	8	1	0	0	0	0	0	0	0	1	6193	767	27	1		1	GABRB1	4	47427807	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	41597571	47427807	143726469	28	849											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			7	834						7	834	---	---	---	---	-	79372776	TGA	-	79372774	7	5	8	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-2J-AABF-01A-31D-A40W-08		79372774	101542486	29	850											
APC	324	broad.mit.edu	37	chr5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgccacttgcaaagtttCttctattaaccaagaaacaa	6	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1252	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAAAGTTTCTTCTATTAAC	0.393		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3754-3756)tCt>tAt		adenomatous polyposis coli							47	49	48					5																	112175046		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175046C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3755C>A	5.37:g.112175046C>A	ENSP00000413133:p.Ser1252Tyr	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y	p.S1252Y			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4135	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1252			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3755C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503801	0.26949	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90444	-2.49;-2.49;-2.49;-2.67	5.83	5.83	0.93111	.	0.153741	0.45606	D	0.000360	T	0.80954	0.4723	N	0.08118	0	0.22803	N	0.998713	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.62515	-0.6838	9	.	.	.	-1.3032	16.4069	0.83677	0.132:0.868:0.0:0.0	.	1254;1252	Q4LE70;P25054	.;APC_HUMAN	Y	1252	ENSP00000413133:S1252Y;ENSP00000257430:S1252Y;ENSP00000427089:S1252Y;ENSP00000423828:S1252Y	.	S	+	2	0	APC	112202945	0.994000	0.37717	0.997000	0.53966	0.982000	0.71751	5.284000	0.65627	2.756000	0.94617	0.655000	0.94253	TCT		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	183	1	0	7.93312e-07	1	8.4103e-07	13	183					A	112175046	C	A	112175046	3	1	8	1	0	0	0	0	1	0	0	0	763	913	32	3	3813	3	APC	5	112175046	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	32802272	112175046	68740214	30	851											
PCDHA12	56137	broad.mit.edu	37	chr5	140255222	140255222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggacctggggctggaGctggcggagctggtgccgcg	20	11	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:140255222G>T	ENST00000398631.2	+	1	165	c.165G>T	c.(163-165)gaG>gaT	p.E55D	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGGAGCTGGCGGAGC	0.622																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(163-165)gaG>gaT									37	46	43					5																	140255222		2201	4291	6492	SO:0001583	missense	0							g.chr5:140255222G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.165G>T	5.37:g.140255222G>T	ENSP00000381628:p.Glu55Asp					PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.E55D	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	165	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.165G>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346353	0.11126	.	.	ENSG00000251664	ENST00000398631	T	0.27720	1.65	5.18	2.41	0.29592	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.19087	0.0458	N	0.25957	0.775	0.18873	N	0.999988	B;B	0.13145	0.003;0.007	B;B	0.19391	0.005;0.025	T	0.24440	-1.0160	9	0.29301	T	0.29	.	5.0153	0.14333	0.2994:0.0:0.5659:0.1347	.	55;55	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	D	55	ENSP00000381628:E55D	ENSP00000381628:E55D	E	+	3	2	PCDHA12	140235406	0.000000	0.05858	0.975000	0.42487	0.708000	0.40852	-0.297000	0.08276	0.587000	0.29643	0.591000	0.81541	GAG		0.622	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		5	294	1	0	3.86212e-05	1	4.03377e-05	5	294					T	140255222	G	T	140255222	3	4	8	1	0	0	0	0	1	0	0	0	11564	962	34	3	167	3	PCDHA12	5	140255222	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	28080176	140255222	40660038	31	852											
B3GALT4	8705	broad.mit.edu	37	chr6	33245960	33245960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggcctcacacctGgggcccctttccaccctatg	11	16	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:33245960G>A	ENST00000451237.1	+	1	1044	c.764G>A	c.(763-765)tGg>tAg	p.W255*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	255					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCACACCTGGGGCCCCTTT	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(763-765)tGg>tAg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							43	47	45					6																	33245960		2203	4300	6503	SO:0001587	stop_gained	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245960G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.764G>A	6.37:g.33245960G>A	ENSP00000390784:p.Trp255*						p.W255*	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1044	+			255						Nonsense_Mutation	SNP	ENST00000451237.1	37	c.764G>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137213	0.97315	.	.	ENSG00000235863	ENST00000451237	.	.	.	4.49	3.59	0.41128	.	0.802843	0.11090	N	0.600823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	11.062	0.47953	0.0:0.0:0.7952:0.2047	.	.	.	.	X	255	.	ENSP00000390784:W255X	W	+	2	0	B3GALT4	33353938	1.000000	0.71417	0.984000	0.44739	0.778000	0.44026	4.291000	0.59025	1.043000	0.40175	0.643000	0.83706	TGG		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			4	204	0	0	0	1	0	4	204					A	33245960	G	A	33245960	4	1	8	1	0	0	0	0	0	1	0	0	1250	1357	47	2	766	2	B3GALT4	6	33245960	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		33245960	137869107	32	853											
C6orf170	221322	broad.mit.edu	37	chr6	121560264	121560264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagtagttctgggatgGgttaccctaacatcatctct	10	9	3	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:121560264G>A	ENST00000398212.2	-	20	2365	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	TBC1D32_ENST00000398197.2_5'Flank|TBC1D32_ENST00000275159.6_Silent_p.T772T	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	772					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTCTGGGATGGGTTACCCTAA	0.328																																						ENST00000275159.6																			0											c.(2314-2316)acC>acT		TBC1 domain family, member 32							141	140	140					6																	121560264		1818	4074	5892	SO:0001819	synonymous_variant	221322							g.chr6:121560264G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2316C>T	6.37:g.121560264G>A						TBC1D32_ENST00000398212.2_Silent_p.T772T	p.T772T							20	2315	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.2316C>T	CCDS43501.1																																																																																				0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		90	470	0	0	0	1	0	90	470					A	121560264	G	A	121560264	2	1	8	1	0	0	0	0	0	0	0	1	2351	1219	43	2		2	C6orf170	6	121560264	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	88314304	121560264	49554803	33	854											
TRDN	10345	broad.mit.edu	37	chr6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaaggatctgagccaatCttggcaatagagcttgctaa	9	7	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000398178.3	-	3	270	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000334268.4_Missense_Mutation_p.K83N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	83					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGAGCCAATCTTGGCAATAG	0.333																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(247-249)aaG>aaT		triadin							42	40	41					6																	123869741		1824	4075	5899	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123869741C>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.249G>T	6.37:g.123869741C>A	ENSP00000381240:p.Lys83Asn					TRDN_ENST00000398178.3_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000542443.1_Missense_Mutation_p.K83N	p.K83N			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	3	566	-			83					A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.249G>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855645	0.51376	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.68331	1.24;1.24;1.24;-0.32	5.29	4.42	0.53409	Aspartyl beta-hydroxylase/Triadin domain (1);	0.207799	0.41294	D	0.000910	T	0.76076	0.3937	M	0.83012	2.62	0.32517	N	0.536805	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;0.993	D;D;D;D;D	0.83275	0.996;0.996;0.911;0.911;0.934	T	0.79431	-0.1806	10	0.72032	D	0.01	-3.8587	12.1537	0.54064	0.0:0.9204:0.0:0.0796	.	83;83;83;83;83	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	83	ENSP00000381240:K83N;ENSP00000333984:K83N;ENSP00000439281:K83N;ENSP00000437684:K83N	ENSP00000333984:K83N	K	-	3	2	TRDN	123911440	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.278000	0.43426	1.216000	0.43427	0.655000	0.94253	AAG		0.333	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	34	1	0	0.004672	1	0.00480841	3	34					A	123869741	C	A	123869741	3	1	8	1	0	0	0	0	1	0	0	0	16521	912	32	3	2096	3	TRDN	6	123869741	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	2309477	123869741	47245326	34	855											
HEATR2	54919	broad.mit.edu	37	chr7	794231	794231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttttcgttccagagcgcCgccctgtgctgggctgccgg	13	15	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	344						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCAGAGCGCCGCCCTGTGCT	0.547																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1030-1032)Cgc>Tgc		HEAT repeat containing 2							126	139	135					7																	794231		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:794231C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1030C>T	7.37:g.794231C>T	ENSP00000297440:p.Arg344Cys					HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	5	1050	+		Ovarian(82;0.0112)	344					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1030C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.25|17.25	3.342614|3.342614	0.61073|0.61073	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.73789	.|-0.78;-0.77	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.130641	.|0.52532	.|D	.|0.000078	D|D	0.86581|0.86581	0.5967|0.5967	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.986;0.994	D|D	0.88188|0.88188	0.2875|0.2875	5|10	.|0.87932	.|D	.|0	-46.9262|-46.9262	14.3636|14.3636	0.66789|0.66789	0.1481:0.8519:0.0:0.0|0.1481:0.8519:0.0:0.0	.|.	.|344;90	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	L|C	116;145|344;344;90	.|ENSP00000297440:R344C;ENSP00000321451:R344C	.|ENSP00000297440:R344C	P|R	+|+	2|1	0|0	HEATR2|HEATR2	760757|760757	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.044000|0.044000	0.14063|0.14063	5.258000|5.258000	0.65479|0.65479	2.603000|2.603000	0.88011|0.88011	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.547	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		61	647	0	0	0	1	0	61	647					T	794231	C	T	794231	3	4	8	1	0	0	0	0	1	0	0	0	7058	652	23	1	1048	1	HEATR2	7	794231	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		794231	158344432	35	856											
SDK1	221935	broad.mit.edu	37	chr7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacctggccccggagtccGcatacatcttcaggctgtcc	10	17	2	0	rs371754353		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1447	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGGAGTCCGCATACATCTT	0.662																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4339-4341)Gca>Aca		sidekick cell adhesion molecule 1		G	THR/ALA	0,4406		0,0,2203	55	50	52		4339	5	0.7	7		52	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK1	NM_152744.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1447/2214	4185464	2,13004	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4185464G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4339G>A	7.37:g.4185464G>A	ENSP00000385899:p.Ala1447Thr					SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4478	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1447			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4339G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217704	0.39201	0.0	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56103	0.48;0.48	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.31327	0.0793	N	0.04090	-0.28	0.27196	N	0.960291	P;P	0.52692	0.526;0.955	B;P	0.45343	0.138;0.477	T	0.11227	-1.0596	10	0.20519	T	0.43	.	10.7984	0.46474	0.0865:0.0:0.9135:0.0	.	1447;1447	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	1447	ENSP00000385899:A1447T;ENSP00000374182:A1447T	ENSP00000374182:A1447T	A	+	1	0	SDK1	4151990	0.978000	0.34361	0.687000	0.30102	0.880000	0.50808	3.755000	0.55197	2.296000	0.77279	0.462000	0.41574	GCA		0.662	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		5	251	0	0	0	1	0	5	251					A	4185464	G	A	4185464	3	1	8	1	0	0	0	0	1	0	0	0	14018	1087	38	1	4453	1	SDK1	7	4185464	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	3391233	4185464	154953199	36	857											
TBX20	57057	broad.mit.edu	37	chr7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgattgtgttctccgtcGcctccttctccttagagccg	9	13	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTCTCCGTCGCCTCCTTCTC	0.647																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(100-102)gCg>gTg		T-box 20							51	47	48					7																	35293131		2202	4300	6502	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35293131G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.101C>T	7.37:g.35293131G>A	ENSP00000386170:p.Ala34Val						p.A34V	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			1	627	-			34					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.101C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501515	0.44455	.	.	ENSG00000164532	ENST00000408931	D	0.87809	-2.3	5.35	4.39	0.52855	.	0.505372	0.22454	N	0.059858	T	0.72399	0.3455	N	0.08118	0	0.09310	N	0.999998	B	0.27971	0.196	B	0.15052	0.012	T	0.60286	-0.7293	10	0.30078	T	0.28	.	12.1051	0.53807	0.0936:0.0:0.9064:0.0	.	34	Q9UMR3	TBX20_HUMAN	V	34	ENSP00000386170:A34V	ENSP00000386170:A34V	A	-	2	0	TBX20	35259656	0.532000	0.26346	0.486000	0.27416	0.955000	0.61496	3.672000	0.54583	1.099000	0.41499	0.462000	0.41574	GCG		0.647	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		5	84	0	0	0	1	0	5	84					A	35293131	G	A	35293131	3	1	8	1	0	0	0	0	1	0	0	0	15708	1087	38	1	1275	1	TBX20	7	35293131	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	31107667	35293131	123845532	37	858											
OGDH	4967	broad.mit.edu	37	chr7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaagaaccaaggctactatGactacgtgaagccaagactt	8	10	0	4			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N|OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	967					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGGCTACTATGACTACGTGAA	0.602																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2899-2901)Gac>Aac		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						116	94	102					7																	44747283		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747283G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2899G>A	7.37:g.44747283G>A	ENSP00000222673:p.Asp967Asn					OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N	p.D967N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			22	2941	+			967					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2899G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163705	0.78226	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	T	0.11495	0.0280	N	0.17278	0.47	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.001;0.002;0.002	B;B;B;B;B	0.12837	0.003;0.003;0.003;0.008;0.003	T	0.11494	-1.0585	10	0.42905	T	0.14	-41.9842	18.9009	0.92442	0.0:0.0:1.0:0.0	.	762;817;963;978;967	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	817;963;978;982;967;918	ENSP00000398576:D817N;ENSP00000392878:D963N;ENSP00000388183:D978N;ENSP00000414662:D982N;ENSP00000222673:D967N;ENSP00000443821:D918N	ENSP00000222673:D967N	D	+	1	0	OGDH	44713808	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.889000	0.87307	2.560000	0.86352	0.491000	0.48974	GAC		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			7	319	0	0	0	1	0	7	319					A	44747283	G	A	44747283	3	1	8	1	0	0	0	0	1	0	0	0	10881	1290	45	2	3154	2	OGDH	7	44747283	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	9454152	44747283	114391380	38	859											
WBSCR17	64409	broad.mit.edu	37	chr7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtggcccacattgagCggaagaagaagccatataat	12	9	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1141-1143)Cgg>Tgg		Williams-Beuren syndrome chromosome region 17							106	100	102					7																	71130456		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130456C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1141C>T	7.37:g.71130456C>T	ENSP00000329654:p.Arg381Trp					WBSCR17_ENST00000498380.2_3'UTR	p.R381W	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			7	1775	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	381			Catalytic subdomain B.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1141C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033947	0.75504	.	.	ENSG00000185274	ENST00000333538	T	0.69175	-0.38	5.85	1.83	0.25207	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.98936	4.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92381	0.5913	10	0.87932	D	0	.	15.3575	0.74440	0.6063:0.3937:0.0:0.0	.	381	Q6IS24	GLTL3_HUMAN	W	381	ENSP00000329654:R381W	ENSP00000329654:R381W	R	+	1	2	WBSCR17	70768392	0.877000	0.30153	1.000000	0.80357	0.987000	0.75469	1.218000	0.32467	0.362000	0.24319	-0.261000	0.10672	CGG		0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		7	362	0	0	0	1	0	7	362					T	71130456	C	T	71130456	3	4	8	1	0	0	0	0	1	0	0	0	17318	759	27	1	1167	1	WBSCR17	7	71130456	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	26383173	71130456	88008207	39	860											
MLXIPL	51085	broad.mit.edu	37	chr7	73010006	73010006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgtacgggttcggacGtagtcatcaaacatgtctcg	12	10	3	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	757					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTTCGGACGTAGTCATCAA	0.632																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2269-2271)taC>taT		MLX interacting protein-like							131	119	123					7																	73010006		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010006G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2271C>T	7.37:g.73010006G>A						MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y	p.Y757Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			15	2318	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	757					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.2271C>T	CCDS5553.1																																																																																				0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		11	142	0	0	0	1	0	11	142					A	73010006	G	A	73010006	2	1	8	1	0	0	0	0	0	0	0	1	9678	1140	40	1		1	MLXIPL	7	73010006	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1879550	73010006	86128657	40	861											
PEG10	23089	broad.mit.edu	37	chr7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgagaggttgccaaacGcaagatcagacgcctgcgcc	14	12	1	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGCCAAACGCAAGATCAGA	0.542																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(505-507)cGc>cAc		paternally expressed 10							140	146	144					7																	94293374		2013	4172	6185	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293374G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.506G>A	7.37:g.94293374G>A	ENSP00000417587:p.Arg169His					PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	985	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		169			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.506G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064561	0.55432	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14766	2.48;2.48	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.26195	0.0639	L	0.35854	1.095	0.25927	N	0.983049	D;D	0.89917	0.999;1.0	D;D	0.81914	0.971;0.995	T	0.03287	-1.1052	9	0.48119	T	0.1	.	11.9358	0.52872	0.0:0.0:1.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	H	169	ENSP00000417587:R169H;ENSP00000418944:R169H	ENSP00000417587:R169H	R	+	2	0	PEG10	94131310	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	2.457000	0.45005	2.276000	0.75962	0.555000	0.69702	CGC		0.542	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		102	491	0	0	0	1	0	102	491					A	94293374	G	A	94293374	3	1	8	1	0	0	0	0	1	0	0	0	11761	1087	38	1	740	1	PEG10	7	94293374	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21283368	94293374	64845289	41	862											
CADPS2	93664	broad.mit.edu	37	chr7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttccccattgaggaaggCctggaaccgttctttcagta	11	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000449022.2	-	2	401	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	128					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGAGGAAGGCCTGGAACCGT	0.383																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(382-384)Gcc>Tcc		Ca++-dependent secretion activator 2							97	89	91					7																	122377080		1865	4119	5984	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122377080C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.382G>T	7.37:g.122377080C>A	ENSP00000398481:p.Ala128Ser					CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	p.A128S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			2	803	-			128					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.382G>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542347	0.27563	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.64	5.64	0.86602	.	0.176929	0.49305	D	0.000151	T	0.60573	0.2279	N	0.05259	-0.085	0.53688	D	0.99997	B;B	0.25351	0.003;0.124	B;B	0.17979	0.014;0.02	T	0.59456	-0.7451	10	0.13853	T	0.58	-8.3102	13.6306	0.62193	0.1547:0.8453:0.0:0.0	.	128;128	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	128;128;128;95;128;128	ENSP00000325581:A128S;ENSP00000333940:A128S;ENSP00000400401:A128S;ENSP00000398481:A128S	ENSP00000325581:A128S	A	-	1	0	CADPS2	122164316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.736000	0.55052	2.631000	0.89168	0.585000	0.79938	GCC		0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		13	176	1	0	5.50884e-06	1	5.79661e-06	13	176					A	122377080	C	A	122377080	3	1	8	1	0	0	0	0	1	0	0	0	2578	739	26	3	3668	3	CADPS2	7	122377080	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	28083706	122377080	36761583	42	863											
CHRNA2	1135	broad.mit.edu	37	chr8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggggctgagcttcaggcGtagggggtggcagagctcca	19	8	1	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000520933.2	-	5	1333	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	394					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCTTCAGGCGTAGGGGGTGG	0.667																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1180-1182)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						61	56	57					8																	27320780		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27320780G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1180C>T	8.37:g.27320780G>A	ENSP00000429616:p.Arg394Cys					CHRNA2_ENST00000520933.2_Missense_Mutation_p.R394C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C	p.R394C	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1788	-		Ovarian(32;2.61e-05)	394					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.1180C>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.162980	0.09287	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.71222	-0.55;-0.55;-0.55	5.03	3.25	0.37280	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.230070	0.05296	N	0.522105	T	0.68933	0.3055	M	0.76433	2.335	0.09310	N	1	P;B	0.48089	0.905;0.108	B;B	0.36719	0.231;0.03	T	0.58205	-0.7677	10	0.56958	D	0.05	.	8.6291	0.33908	0.0:0.7597:0.1553:0.085	.	379;394	B4DK19;Q15822	.;ACHA2_HUMAN	C	394;394;379	ENSP00000385026:R394C;ENSP00000429616:R394C;ENSP00000240132:R379C	ENSP00000240132:R379C	R	-	1	0	CHRNA2	27376697	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.600000	0.36762	0.720000	0.32209	-1.021000	0.02439	CGC		0.667	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			12	194	0	0	0	1	0	12	194					A	27320780	G	A	27320780	3	1	8	1	0	0	0	0	1	0	0	0	3392	1145	40	1	417	1	CHRNA2	8	27320780	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		27320780	119043242	43	864											
KCNB2	9312	broad.mit.edu	37	chr8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaggctgcccaggaCgcgcctggggaagcttcgag	17	12	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							66	68	67					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	8.37:g.73480145C>T	ENSP00000430846:p.Thr59Met						p.T59M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		18	334	0	0	0	1	0	18	334					T	73480145	C	T	73480145	3	4	8	1	0	0	0	0	1	0	0	0	8043	536	19	1	178	1	KCNB2	8	73480145	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	46159365	73480145	72883877	44	865											
CNBD1	168975	broad.mit.edu	37	chr8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagctcgacctcaaacaaAcgtgtataaaaatctgattg	6	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	212										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCTCAAACAAACGTGTATAAA	0.368																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(634-636)aAc>aGc		cyclic nucleotide binding domain containing 1							147	132	137					8																	88249204		1840	4084	5924	SO:0001583	missense	168975							g.chr8:88249204A>G	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.635A>G	8.37:g.88249204A>G	ENSP00000430073:p.Asn212Ser					CNBD1_ENST00000522427.1_3'UTR	p.N212S	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			6	686	+			212						Missense_Mutation	SNP	ENST00000518476.1	37	c.635A>G	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	3.275	-0.148197	0.06627	.	.	ENSG00000176571	ENST00000518476	T	0.16743	2.32	4.29	-2.76	0.05896	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.950470	0.02259	N	0.067417	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.25502	-1.0130	10	0.12103	T	0.63	0.0587	5.5245	0.16951	0.3422:0.4741:0.1837:0.0	.	212	Q8NA66	CNBD1_HUMAN	S	212	ENSP00000430073:N212S	ENSP00000430073:N212S	N	+	2	0	CNBD1	88318320	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.060000	0.14342	-0.458000	0.07023	0.533000	0.62120	AAC		0.368	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		26	333	0	0	0	1	0	26	333					G	88249204	A	G	88249204	3	3	8	1	0	0	0	0	1	0	0	0	3600	43	2	4	657	4	CNBD1	8	88249204	Missense_Mutation	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08	14769059	88249204	58114818	45	866											
PABPC1	26986	broad.mit.edu	37	chr8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatcacgctgagaccacaTgatgcgtactggcttgccct	11	12	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGACCACATGATGCGTACT	0.398																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(253-255)Atg>Ttg		poly(A) binding protein, cytoplasmic 1							74	69	71					8																	101730449		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730449T>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.253A>T	8.37:g.101730449T>A	ENSP00000313007:p.Met85Leu					PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L	p.M85L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		2	1381	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		85			RRM 1.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.253A>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	T	32	5.114517	0.94339	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.25245	0.725	0.58432	D	0.999995	P;P;P	0.42584	0.784;0.784;0.784	B;B;P	0.49953	0.188;0.387;0.627	T	0.09509	-1.0671	10	0.72032	D	0.01	.	15.6618	0.77193	0.0:0.0:0.0:1.0	.	85;85;85	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	L	85;85;40;85;40;85;85	ENSP00000313007:M85L;ENSP00000429594:M40L;ENSP00000429395:M85L;ENSP00000430159:M40L;ENSP00000429119:M85L;ENSP00000430012:M85L	ENSP00000313007:M85L	M	-	1	0	PABPC1	101799625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.020000	0.88740	2.167000	0.68274	0.528000	0.53228	ATG		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		4	181	0	0	0	1	0	4	181					A	101730449	T	A	101730449	3	1	8	1	0	0	0	0	1	0	0	0	11405	1464	51	5	1709	5	PABPC1	8	101730449	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	13481245	101730449	44633573	46	867											
GRHL2	79977	broad.mit.edu	37	chr8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT													attacaacacggatgatgaaINScgagaagggtaagacactca							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	504					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGATGATGAACGAGAAGGGTA	0.421																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1507-1512)gagagafs		grainyhead-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102649148_102649149insCTCT	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	Exception_encountered	8.37:g.102649148_102649149insCTCT	ENSP00000251808:p.Arg504fs					GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.ER487fs|GRHL2_ENST00000517674.1_3'UTR	p.ER503fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		12	1847_1848	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		503					A1L303|Q6NT03|Q9H8B8	Frame_Shift_Ins	INS	ENST00000251808.3	37	c.1509_1510insCTCT	CCDS34931.1																																																																																				0.421	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		36	430						36	430	---	---	---	---	CTCT	102649149	-	CTCT	102649148	7	5	8	1	0	1	1	0	0	0	0	0	6794	40	2	0	1555	0	GRHL2	8	102649148	Frame_Shift_Ins	INS	-	TCGA-2J-AABF-01A-31D-A40W-08	918699	102649148	43714874	47	868											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	54	0	0	0	1	0	16	54					A	21971120	G	A	21971120	4	1	8	1	0	0	0	0	0	1	0	0	3170	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		21971120	119242311	48	869											
GOLGA1	2800	broad.mit.edu	37	chr9	127690535	127690535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgttggcttggaatgtctCattctgctcttgaaatttcc	8	9	4	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:127690535C>G	ENST00000373555.4	-	6	664	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	111					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAATGTCTCATTCTGCTCT	0.433																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(331-333)Gag>Cag		golgin A1							120	95	104					9																	127690535		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127690535C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.331G>C	9.37:g.127690535C>G	ENSP00000362656:p.Glu111Gln						p.E111Q	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			6	664	-			111					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.331G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731633	0.89390	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.18657	2.2;2.2	5.5	4.6	0.57074	.	0.145753	0.30781	U	0.008895	T	0.43322	0.1242	M	0.67953	2.075	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.27054	-1.0085	10	0.40728	T	0.16	-11.2738	13.4002	0.60879	0.0:0.9247:0.0:0.0753	.	10;111	Q59HA1;Q92805	.;GOGA1_HUMAN	Q	111	ENSP00000362656:E111Q;ENSP00000396966:E111Q	ENSP00000362656:E111Q	E	-	1	0	GOLGA1	126730356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.204000	0.77872	1.336000	0.45506	0.655000	0.94253	GAG		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		4	148	0	0	0	1	0	4	148					G	127690535	C	G	127690535	3	3	8	1	0	0	0	0	1	0	0	0	6580	835	29	5	2044	5	GOLGA1	9	127690535	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	105719415	127690535	13522896	49	870											
VAX1	11023	broad.mit.edu	37	chr10	118895992	118895992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgggtacctgggtctcGgagaggttaagctgccgggc	17	11	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr10:118895992G>A	ENST00000369206.5	-	2	419	c.420C>T	c.(418-420)tcC>tcT	p.S140S	VAX1_ENST00000277905.2_Silent_p.S140S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	140					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S140S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGGGTCTCGGAGAGGTTAA	0.652																																						ENST00000277905.2																			1	Substitution - coding silent(1)	p.S140S(1)	ovary(1)	endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(418-420)tcC>tcT		ventral anterior homeobox 1							37	39	39					10																	118895992		2203	4300	6503	SO:0001819	synonymous_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118895992G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.420C>T	10.37:g.118895992G>A						VAX1_ENST00000369206.5_Silent_p.S140S	p.S140S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	664	-			140					B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	c.420C>T	CCDS44483.1																																																																																				0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		17	131	0	0	0	1	0	17	131					A	118895992	G	A	118895992	2	1	8	1	0	0	0	0	0	0	0	1	17188	1103	39	1		1	VAX1	10	118895992	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		118895992	16638755	50	871											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606443	1606443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacagcccccacagcTggagccacagcctccggagc	12	18	0	0	rs541535366		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:1606443T>C	ENST00000382171.2	-	1	70	c.37A>G	c.(37-39)Agc>Ggc	p.S13G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	13						keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCACAGCTGGAGCCACAG	0.672													T|||	1	0.000199681	0.0	0.0	5008	,	,		10249	0.001		0.0	False		,,,				2504	0.0					ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(37-39)Agc>Ggc		keratin associated protein 5-1							50	59	56					11																	1606443		2191	4292	6483	SO:0001583	missense	387264					keratin filament		g.chr11:1606443T>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.37A>G	11.37:g.1606443T>C	ENSP00000371606:p.Ser13Gly					KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.S13G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	70	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	13						Missense_Mutation	SNP	ENST00000382171.2	37	c.37A>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442712	0.01089	.	.	ENSG00000205869	ENST00000382171	T	0.05786	3.39	3.68	-0.313	0.12754	.	.	.	.	.	T	0.04363	0.0120	N	0.21448	0.665	0.09310	N	0.999997	B	0.11235	0.004	B	0.09377	0.004	T	0.39522	-0.9610	9	0.62326	D	0.03	.	5.381	0.16192	0.1575:0.1056:0.0:0.7369	.	13	Q6L8H4	KRA51_HUMAN	G	13	ENSP00000371606:S13G	ENSP00000371606:S13G	S	-	1	0	KRTAP5-1	1563019	0.013000	0.17824	0.972000	0.41901	0.013000	0.08279	-1.124000	0.03260	-0.420000	0.07427	-0.748000	0.03510	AGC		0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		8	442	0	0	0	1	0	8	442					C	1606443	T	C	1606443	3	2	8	1	0	0	0	0	1	0	0	0	8589	1580	55	4	803	4	KRTAP5-1	11	1606443	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08		1606443	133400073	51	872											
E2F8	79733	broad.mit.edu	37	chr11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttgttgagattgtgtcGcccgtgccaagtgtacctgt	13	8	0	1	rs562160670		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463																																						ENST00000527884.1																			1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(547-549)Cga>Tga		E2F transcription factor 8							112	92	98					11																	19256510		2199	4293	6492	SO:0001587	stop_gained	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256510G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.547C>T	11.37:g.19256510G>A	ENSP00000434199:p.Arg183*					RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*	p.R183*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			5	779	-			183					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Nonsense_Mutation	SNP	ENST00000527884.1	37	c.547C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	41	8.598033	0.98879	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	.	.	.	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.748	9.211	0.37318	0.0759:0.0:0.7658:0.1583	.	.	.	.	X	183	.	ENSP00000250024:R183X	R	-	1	2	E2F8	19213086	1.000000	0.71417	0.990000	0.47175	0.703000	0.40648	2.374000	0.44274	1.245000	0.43885	0.655000	0.94253	CGA		0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		59	286	0	0	0	1	0	59	286					A	19256510	G	A	19256510	4	1	8	1	0	0	0	0	0	1	0	0	4889	1095	38	1	2092	1	E2F8	11	19256510	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	17650067	19256510	115750006	52	873											
ABTB2	25841	broad.mit.edu	37	chr11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgccctggctcgacGcatcactttcctccacaccc	6	20	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	696					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGGCTCGACGCATCACTTTC	0.657																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2086-2088)gCg>gTg		ankyrin repeat and BTB (POZ) domain containing 2							74	60	65					11																	34184254		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34184254G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2087C>T	11.37:g.34184254G>A	ENSP00000410157:p.Ala696Val					ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	p.A696V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			10	2511	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	510					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2087C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696873	0.15106	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60171	0.21;0.21	5.11	4.18	0.49190	.	0.887861	0.09993	N	0.729498	T	0.46658	0.1404	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.31779	-0.9931	10	0.30078	T	0.28	-19.4398	15.1479	0.72674	0.0:0.1422:0.8578:0.0	.	510	Q8N961	ABTB2_HUMAN	V	696;510	ENSP00000410157:A696V;ENSP00000298992:A510V	ENSP00000298992:A510V	A	-	2	0	ABTB2	34140830	0.467000	0.25831	0.001000	0.08648	0.013000	0.08279	3.582000	0.53921	1.128000	0.42052	0.655000	0.94253	GCG		0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		16	164	0	0	0	1	0	16	164					A	34184254	G	A	34184254	3	1	8	1	0	0	0	0	1	0	0	0	103	1087	38	1	1022	1	ABTB2	11	34184254	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	14927744	34184254	100822262	53	874											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276711	71276711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgggggctgtggctcCggctgtgggggctatggctc	21	9	0	0	rs570855626	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:71276711C>T	ENST00000398531.1	+	1	103	c.78C>T	c.(76-78)tcC>tcT	p.S26S	KRTAP5-10_ENST00000376536.4_Silent_p.S26S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	26						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGCTCCGGCTGTGGGG	0.667													c|||	6	0.00119808	0.0008	0.0014	5008	,	,		6702	0.0		0.0	False		,,,				2504	0.0041					ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(76-78)tcC>tcT		keratin associated protein 5-10							30	42	38					11																	71276711		2174	4267	6441	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276711C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.78C>T	11.37:g.71276711C>T						KRTAP5-10_ENST00000376536.4_Silent_p.S26S	p.S26S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	103	+			26					B9EHA4	Silent	SNP	ENST00000398531.1	37	c.78C>T	CCDS41684.1																																																																																				0.667	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	345	0	0	0	1	0	6	345					T	71276711	C	T	71276711	2	4	8	1	0	0	0	0	0	0	0	1	8590	639	23	1		1	KRTAP5-10	11	71276711	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	37092457	71276711	63729805	54	875											
MAP6	4135	broad.mit.edu	37	chr11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccttcacccttgacaGgtgctgggactatgggacct	13	11	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	613	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCCTTGACAGGTGCTGGGAC	0.537																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1837-1839)cCt>cTt		microtubule-associated protein 6							171	152	158					11																	75298708		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298708G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1838C>T	11.37:g.75298708G>A	ENSP00000307093:p.Pro613Leu					CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L	p.P613L	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2588	-	Ovarian(111;0.11)		613			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1838C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505538	0.26949	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	4.42	1.37	0.22104	.	.	.	.	.	T	0.40473	0.1118	L	0.58810	1.83	0.18873	N	0.999982	B	0.12013	0.005	B	0.12156	0.007	T	0.31308	-0.9948	9	0.35671	T	0.21	0.8809	6.9282	0.24426	0.0869:0.0:0.6059:0.3071	.	613	Q96JE9	MAP6_HUMAN	L	613;284;284	ENSP00000307093:P613L	ENSP00000307093:P613L	P	-	2	0	MAP6	74976356	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.147000	0.16202	0.195000	0.20347	0.435000	0.28638	CCT		0.537	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		44	456	0	0	0	1	0	44	456					A	75298708	G	A	75298708	3	1	8	1	0	0	0	0	1	0	0	0	9305	1000	35	2	607	2	MAP6	11	75298708	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	4021997	75298708	59707808	55	876											
CASP5	838	broad.mit.edu	37	chr11	104871109	104871109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggttttttctttttatgCgcagttccgcagattccctc	7	12	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000260315.3	-	6	830	c.831G>A	c.(829-831)gcG>gcA	p.A277A	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000393141.2_Silent_p.A290A|CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000418434.1_Silent_p.A135A			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	277					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTTTATGCGCAGTTCCGC	0.483																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(868-870)gcG>gcA		caspase 5, apoptosis-related cysteine peptidase							170	154	159					11																	104871109		2202	4299	6501	SO:0001819	synonymous_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871109C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.831G>A	11.37:g.104871109C>T						CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Silent_p.A277A	p.A290A	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	901	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	277					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	c.870G>A	CCDS8328.2																																																																																				0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		5	388	0	0	0	1	0	5	388					T	104871109	C	T	104871109	2	4	8	1	0	0	0	0	0	0	0	1	2681	755	27	1		1	CASP5	11	104871109	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	29572401	104871109	30135407	56	877											
RPUSD4	84881	broad.mit.edu	37	chr11	126081418	126081418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctgggcatttatggccGtagaggcagcggcagcggca	15	10	1	1	rs202117043		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:126081418G>A	ENST00000298317.4	-	1	169	c.116C>T	c.(115-117)aCg>aTg	p.T39M	RNU4-86P_ENST00000410135.1_RNA|RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M|FAM118B_ENST00000360194.4_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	39					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTATGGCCGTAGAGGCAGC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		15853	0.001		0.0	False		,,,				2504	0.0					ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(115-117)aCg>aTg		RNA pseudouridylate synthase domain containing 4							124	134	131					11																	126081418		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081418G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.116C>T	11.37:g.126081418G>A	ENSP00000298317:p.Thr39Met					RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M|FAM118B_ENST00000533050.1_5'UTR	p.T39M	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	169	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	39					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.116C>T	CCDS8469.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.334	0.827140	0.16749	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.24538	2.89;2.71;1.85	5.01	-5.71	0.02413	.	1.592770	0.03060	N	0.155783	T	0.11623	0.0283	N	0.22421	0.69	0.09310	N	0.999996	P;P	0.45283	0.855;0.855	B;B	0.28638	0.092;0.092	T	0.34030	-0.9845	10	0.44086	T	0.13	-17.3736	6.4374	0.21831	0.0:0.2341:0.2482:0.5177	.	39;39	E9PML2;Q96CM3	.;RUSD4_HUMAN	M	39	ENSP00000298317:T39M;ENSP00000433065:T39M;ENSP00000433709:T39M	ENSP00000298317:T39M	T	-	2	0	RPUSD4	125586628	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.824000	0.04438	-1.192000	0.02691	-0.275000	0.10095	ACG		0.592	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		6	866	0	0	0	1	0	6	866					A	126081418	G	A	126081418	3	1	8	1	0	0	0	0	1	0	0	0	13719	1145	40	1	1045	1	RPUSD4	11	126081418	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21210309	126081418	8925098	57	878											
PRDM10	56980	broad.mit.edu	37	chr11	129784730	129784730	+	Frame_Shift_Del	DEL	G	G	-													gtagtctgtcgttaaggtctGggacagttctgtcattgctt							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:129784730delG	ENST00000360871.3	-	17	2941	c.2710delC	c.(2710-2712)cagfs	p.Q904fs	PRDM10_ENST00000358825.5_Frame_Shift_Del_p.Q908fs|PRDM10_ENST00000423662.2_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.Q878fs|PRDM10_ENST00000526082.1_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000304538.6_Frame_Shift_Del_p.Q818fs	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	908	Thr-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)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTTAAGGTCTGGGACAGTTCT	0.567																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2722-2724)agfs		PR domain containing 10							353	306	322					11																	129784730		2201	4297	6498	SO:0001589	frameshift_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784730delG	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2710delC	11.37:g.129784730delG	ENSP00000354118:p.Gln904fs					PRDM10_ENST00000360871.3_Frame_Shift_Del_p.Q904fs|PRDM10_ENST00000423662.2_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000526082.1_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000304538.6_Frame_Shift_Del_p.Q818fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.Q878fs	p.Q908fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2953	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	908			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Del	DEL	ENST00000360871.3	37	c.2722delC	CCDS8484.1																																																																																				0.567	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	1015						7	1015	---	---	---	---	-	129784730	G	-	129784730	7	5	8	1	0	1	0	1	0	0	0	0	12498	1357	47	0	780	0	PRDM10	11	129784730	Frame_Shift_Del	DEL	G	TCGA-2J-AABF-01A-31D-A40W-08	3703312	129784730	5221786	58	879											
USP5	8078	broad.mit.edu	37	chr12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatgcagctgcctgtgCccatggatgcagcccttaac	9	14	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000389231.5_Missense_Mutation_p.P492S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	492	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCTGCCTGTGCCCATGGATGC	0.557																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1474-1476)Ccc>Tcc		ubiquitin specific peptidase 5 (isopeptidase T)							148	134	139					12																	6970246		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970246C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1474C>T	12.37:g.6970246C>T	ENSP00000229268:p.Pro492Ser					USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S	p.P492S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			12	1526	+			492					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1474C>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055182	0.93793	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.76316	-1.01;-1.01	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.85710	2.77	0.80722	D	1	D;D	0.60160	0.981;0.987	D;P	0.66084	0.941;0.779	D	0.90329	0.4350	10	0.66056	D	0.02	-5.5005	18.5776	0.91161	0.0:1.0:0.0:0.0	.	492;492	P45974;P45974-2	UBP5_HUMAN;.	S	492;492;135	ENSP00000229268:P492S;ENSP00000373883:P492S	ENSP00000229268:P492S	P	+	1	0	USP5	6840507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.610000	0.88304	0.561000	0.74099	CCC		0.557	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			45	663	0	0	0	1	0	45	663					T	6970246	C	T	6970246	3	4	8	1	0	0	0	0	1	0	0	0	17135	739	26	2	1520	2	USP5	12	6970246	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		6970246	126881649	59	880											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agattatggcccgctaccctGaaggttatagaacactccca	8	12	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000299275.6	+	11	1372	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	456					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGCTACCCTGAAGGTTATAG	0.408																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1366-1368)Gaa>Aaa		pleckstrin homology domain containing, family A member 5							57	55	55					12																	19436284		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436284G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1366G>A	12.37:g.19436284G>A	ENSP00000299275:p.Glu456Lys					PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K	p.E456K	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1370	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		456					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1366G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259184	0.80246	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.16	3.25	0.37280	.	0.050946	0.85682	D	0.000000	T	0.37019	0.0988	M	0.78801	2.425	0.46874	D	0.999231	D;D;D;D;D;D;D	0.76494	0.995;0.996;0.997;0.992;0.999;0.985;0.991	D;D;D;P;D;P;D	0.78314	0.92;0.94;0.939;0.872;0.991;0.831;0.919	T	0.33624	-0.9861	10	0.72032	D	0.01	-3.3078	13.6615	0.62370	0.0:0.0:0.8444:0.1556	.	456;348;348;462;462;456;456	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	K	456;456;456;463;456;462;456;214;456;348;348;348	ENSP00000325155:E456K;ENSP00000347560:E456K;ENSP00000352104:E456K;ENSP00000311239:E456K;ENSP00000404296:E462K;ENSP00000299275:E456K;ENSP00000440611:E214K;ENSP00000439673:E456K;ENSP00000400411:E348K;ENSP00000439837:E348K;ENSP00000440371:E348K	ENSP00000299275:E456K	E	+	1	0	PLEKHA5	19327551	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	8.625000	0.90965	1.075000	0.40932	0.655000	0.94253	GAA		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		25	212	0	0	0	1	0	25	212					A	19436284	G	A	19436284	3	1	8	1	0	0	0	0	1	0	0	0	12101	1291	45	2	1408	2	PLEKHA5	12	19436284	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	12466038	19436284	114415611	60	881											
PDE3A	5139	broad.mit.edu	37	chr12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctaaaaagcaaagtcGaccaggtaagtaacttaact	8	7	0	0	rs185449585		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	512					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)			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)	AAGCAAAGTCGACCAGGTAAG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.001		0.0	False		,,,				2504	0.0					ENST00000359062.3																			0				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						c.(1534-1536)cGa>cAa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						81	71	74					12																	20774340		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.chr12:20774340G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1535G>A	12.37:g.20774340G>A	ENSP00000351957:p.Arg512Gln					PDE3A_ENST00000544307.1_3'UTR	p.R512Q	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			5	1575	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	512					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1535G>A	CCDS31754.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.7	4.765502	0.90020	.	.	ENSG00000172572	ENST00000359062	T	0.51574	0.7	5.37	4.46	0.54185	.	1.750830	0.03388	N	0.201351	T	0.60117	0.2244	L	0.55481	1.735	0.41511	D	0.988349	D	0.71674	0.998	P	0.51229	0.663	T	0.41215	-0.9521	10	0.72032	D	0.01	.	13.5478	0.61715	0.0:0.0:0.844:0.156	.	512	Q14432	PDE3A_HUMAN	Q	512	ENSP00000351957:R512Q	ENSP00000351957:R512Q	R	+	2	0	PDE3A	20665607	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.227000	0.72282	1.222000	0.43521	0.591000	0.81541	CGA		0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			14	169	0	0	0	1	0	14	169					A	20774340	G	A	20774340	3	1	8	1	0	0	0	0	1	0	0	0	11679	1058	37	1	1553	1	PDE3A	12	20774340	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1338056	20774340	113077555	61	882											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		23	197	0	0	0	1	0	23	197					T	25398284	C	T	25398284	3	4	8	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	4623944	25398284	108453611	62	883											
C12orf35	55196	broad.mit.edu	37	chr12	32134698	32134698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccatcacagcagtatgCcacgcaaactgacaaaagac	7	12	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:32134698C>T	ENST00000312561.4	+	4	1223	c.809C>T	c.(808-810)gCc>gTc	p.A270V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	270																	CAGCAGTATGCCACGCAAACT	0.403																																						ENST00000312561.4																			0											c.(808-810)gCc>gTc		KIAA1551							92	90	91					12																	32134698		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32134698C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.809C>T	12.37:g.32134698C>T	ENSP00000310338:p.Ala270Val					KIAA1551_ENST00000535596.1_Intron	p.A270V	NM_018169.3	NP_060639.3					4	1223	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.809C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826558	0.71143	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.18174	2.86;2.23	5.68	2.86	0.33363	.	0.386815	0.22282	N	0.062109	T	0.11153	0.0272	L	0.36672	1.1	0.09310	N	1	P	0.39759	0.687	B	0.33121	0.158	T	0.17806	-1.0357	9	.	.	.	.	9.5763	0.39459	0.0:0.7839:0.0:0.2161	.	270	Q9HCM1	CL035_HUMAN	V	270	ENSP00000310338:A270V;ENSP00000370442:A270V	.	A	+	2	0	C12orf35	32025965	0.018000	0.18449	0.025000	0.17156	0.284000	0.27059	1.422000	0.34826	1.402000	0.46780	0.650000	0.86243	GCC		0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		6	459	0	0	0	1	0	6	459					T	32134698	C	T	32134698	3	4	8	1	0	0	0	0	1	0	0	0	1687	739	26	2	811	2	C12orf35	12	32134698	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	6736414	32134698	101717197	63	884											
RARG	5916	broad.mit.edu	37	chr12	53607867	53607867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatctaggcaggcagctttGagcagagtgatctggtcagc	13	8	3	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(787-789)ctC>ctT		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						205	201	203					12																	53607867		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607867G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.789C>T	12.37:g.53607867G>A			OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L	p.L263L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			7	1276	-			263			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.789C>T	CCDS8850.1																																																																																				0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		77	1002	0	0	0	1	0	77	1002					A	53607867	G	A	53607867	2	1	8	1	0	0	0	0	0	0	0	1	13104	1277	45	2		2	RARG	12	53607867	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21473169	53607867	80244028	64	885											
HOXC12	3228	broad.mit.edu	37	chr12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctcaaccctcccttcGgccgcacgtgcgagctggcg	11	17	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	80					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCCTCCCTTCGGCCGCACGTG	0.721																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(238-240)Ggc>Agc		homeobox C12							16	13	14					12																	54348951		2185	4284	6469	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348951G>A	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.238G>A	12.37:g.54348951G>A	ENSP00000243103:p.Gly80Ser						p.G80S	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			1	334	+			80					Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.238G>A	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536334	0.27475	.	.	ENSG00000123407	ENST00000243103	D	0.92348	-3.02	2.85	2.85	0.33270	.	0.142741	0.48286	D	0.000198	T	0.71350	0.3329	N	0.00642	-1.3	0.32432	N	0.547853	B	0.21688	0.059	B	0.10450	0.005	T	0.71196	-0.4664	10	0.20519	T	0.43	.	7.7023	0.28630	0.1267:0.0:0.8733:0.0	.	80	P31275	HXC12_HUMAN	S	80	ENSP00000243103:G80S	ENSP00000243103:G80S	G	+	1	0	HOXC12	52635218	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.133000	0.50531	1.903000	0.55091	0.455000	0.32223	GGC		0.721	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		8	56	0	0	0	1	0	8	56					A	54348951	G	A	54348951	3	1	8	1	0	0	0	0	1	0	0	0	7341	1116	39	1	240	1	HOXC12	12	54348951	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	741084	54348951	79502944	65	886											
CEP290	80184	broad.mit.edu	37	chr12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgttcttcctctagactttCaatctgcaaagtataaatta	4	9	4	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000309041.7_Missense_Mutation_p.E545K|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	543					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGACTTTCAATCTGCAAA	0.333																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1627-1629)Gaa>Aaa		centrosomal protein 290kDa							67	59	62					12																	88512344		1799	4051	5850	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512344C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1627G>A	12.37:g.88512344C>T	ENSP00000448012:p.Glu543Lys					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K	p.E543K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	1970	-			543					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1627G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220537	0.95139	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66099	-0.17;-0.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68123	-0.5492	10	0.07175	T	0.84	.	19.4827	0.95016	0.0:1.0:0.0:0.0	.	543;543	Q05BJ6;O15078	.;CE290_HUMAN	K	543;545;543;445	ENSP00000448012:E543K;ENSP00000308021:E545K	ENSP00000308021:E545K	E	-	1	0	CEP290	87036475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.443000	0.66581	2.601000	0.87937	0.585000	0.79938	GAA		0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		10	40	0	0	0	1	0	10	40					T	88512344	C	T	88512344	3	4	8	1	0	0	0	0	1	0	0	0	3262	835	29	2	5964	2	CEP290	12	88512344	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	34163393	88512344	45339551	66	887											
TCP11L2	255394	broad.mit.edu	37	chr12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcctccagcaaatccagCtctcctgcttgtgagccgat	8	15	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000299045.3	+	2	321	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	49	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCAAATCCAGCTCTCCTGCTT	0.522																																						ENST00000546625.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(145-147)agC>agA		t-complex 11, testis-specific-like 2							58	57	57					12																	106705000		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106705000C>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.147C>A	12.37:g.106705000C>A	ENSP00000299045:p.Ser49Arg					TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000299045.3_Missense_Mutation_p.S49R	p.S49R			Q8N4U5	T11L2_HUMAN			2	306	+			49			Ser-rich.		B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.147C>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401042	0.25291	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.30714	2.19;2.85;2.19;2.19;1.93;1.52	5.91	5.01	0.66863	.	0.357482	0.37178	N	0.002213	T	0.25494	0.0620	L	0.51422	1.61	0.45594	D	0.998536	B;P;P	0.36909	0.437;0.573;0.573	B;B;B	0.33521	0.117;0.165;0.165	T	0.02075	-1.1218	9	.	.	.	-1.542	10.1181	0.42603	0.0:0.8032:0.0:0.1968	.	49;49;49	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	R	49	ENSP00000448952:S49R;ENSP00000299045:S49R;ENSP00000449123:S49R;ENSP00000448629:S49R;ENSP00000447174:S49R;ENSP00000447457:S49R	.	S	+	3	2	TCP11L2	105229130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.943000	0.29030	2.793000	0.96121	0.655000	0.94253	AGC		0.522	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		4	154	1	0	0.00909568	1	0.00929341	4	154					A	106705000	C	A	106705000	3	1	8	1	0	0	0	0	1	0	0	0	15767	796	28	3	149	3	TCP11L2	12	106705000	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	18192656	106705000	27146895	67	888											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	7	309						7	309	---	---	---	---	-	27250863	GT	-	27250862	8	5	8	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-2J-AABF-01A-31D-A40W-08		27250862	87919016	68	889											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgtttgttgttgggcAgagttcgcagcaagtccagc	13	7	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000300584.3	-	9	2152	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	718	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTTGGGCAGAGTTCGCAG	0.547																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2152-2154)cTg>cAg		TBC1 domain family, member 2B							149	112	124					15																	78305282		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305282A>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2153T>A	15.37:g.78305282A>T	ENSP00000300584:p.Leu718Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L718Q	p.L718Q			Q9UPU7	TBD2B_HUMAN			9	2224	-			718			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2153T>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.590106|4.590106	0.86851|0.86851	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.12879	.|2.64;2.64	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Rab-GAP/TBC domain (4);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	T|T	0.62459|0.62459	-0.6850|-0.6850	5|10	.|0.87932	.|D	.|0	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|718;170;718	.|Q9UPU7-2;Q9UPU7-3;Q9UPU7	.|.;.;TBD2B_HUMAN	S|Q	600|718	.|ENSP00000387165:L718Q;ENSP00000300584:L718Q	.|ENSP00000300584:L718Q	C|L	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76092337|76092337	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	9.109000|9.109000	0.94291|0.94291	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		13	140	0	0	0	1	0	13	140					T	78305282	A	T	78305282	3	4	8	1	0	0	0	0	1	0	0	0	15671	188	7	5	758	5	TBC1D2B	15	78305282	Missense_Mutation	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08		78305282	24226110	69	890											
FAH	2184	broad.mit.edu	37	chr15	80465429	80465429	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttttgggaccactgtctcTccgtgggtggtgcccatgga	14	10	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000407106.1	+	10	935	c.780T>A	c.(778-780)tcT>tcA	p.S260S	FAH_ENST00000539156.1_Silent_p.S190S|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.S260S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	260					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTGTCTCTCCGTGGGTGG	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(568-570)tcT>tcA		fumarylacetoacetate hydrolase (fumarylacetoacetase)							199	166	177					15																	80465429		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465429T>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.780T>A	15.37:g.80465429T>A			OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000561421.1_Silent_p.S260S	p.S190S			P16930	FAAA_HUMAN			8	2808	+			260					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.570T>A	CCDS10314.1																																																																																				0.572	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			64	276	0	0	0	1	0	64	276					A	80465429	T	A	80465429	2	1	8	1	0	0	0	0	0	0	0	1	5392	1538	54	5		5	FAH	15	80465429	Silent	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	2160147	80465429	22065963	70	891											
TARSL2	123283	broad.mit.edu	37	chr15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccattttcaatgggcGgaccgtagcacaggtggcct	11	10	1	0	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	256					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATGGGCGGACCGTAGCA	0.463																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(766-768)cCg>cTg		threonyl-tRNA synthetase-like 2		A	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	97	84	89		767	4.6	0.4	15	dbSNP_134	89	0,8600		0,0,4300	yes	missense	TARSL2	NM_152334.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	256/803	102252128	2,13004	2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102252128G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.767C>T	15.37:g.102252128G>A	ENSP00000338093:p.Pro256Leu						p.P256L	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	983	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		256					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.767C>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.084891	0.76642	4.54E-4	0.0	ENSG00000185418	ENST00000335968;ENST00000539112	D;D	0.84146	-1.81;-1.81	5.49	4.58	0.56647	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.108661	0.64402	N	0.000004	D	0.94637	0.8271	H	0.98446	4.235	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.95685	0.8735	10	0.72032	D	0.01	-4.9582	12.3389	0.55083	0.0818:0.0:0.9182:0.0	.	256	A2RTX5	SYTC2_HUMAN	L	256	ENSP00000338093:P256L;ENSP00000439899:P256L	ENSP00000338093:P256L	P	-	2	0	TARSL2	100069651	1.000000	0.71417	0.382000	0.26119	0.886000	0.51366	7.731000	0.84895	1.342000	0.45619	-0.264000	0.10439	CCG		0.463	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		11	157	0	0	0	1	0	11	157					A	102252128	G	A	102252128	3	1	8	1	0	0	0	0	1	0	0	0	15613	1116	39	1	1701	1	TARSL2	15	102252128	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21786699	102252128	279264	71	892											
NAT15	79903	broad.mit.edu	37	chr16	3533506	3533506	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttcaagcagcaccactatCtcccctattactactccatt	2	16	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:3533506C>T	ENST00000407558.4	+	6	784	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	NAA60_ENST00000421765.3_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000608722.1_Missense_Mutation_p.L161F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000610180.1_Missense_Mutation_p.L161F|NAA60_ENST00000608993.1_Missense_Mutation_p.L96F|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	161	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GCACCACTATCTCCCCTATTA	0.488																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(481-483)Ctc>Ttc		N(alpha)-acetyltransferase 60, NatF catalytic subunit							142	151	148					16																	3533506		2039	4183	6222	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3533506C>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.481C>T	16.37:g.3533506C>T	ENSP00000385903:p.Leu161Phe					NAA60_ENST00000570819.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F|NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000570551.1_3'UTR	p.L161F	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN			6	784	+			161			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.481C>T	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168352	0.78339	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.55588	0.51;0.53;0.53;0.93	5.47	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.982	T	0.71269	-0.4643	10	0.52906	T	0.07	-23.1009	13.5107	0.61511	0.0:0.9245:0.0:0.0755	.	168;161	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	F	168;161;161;96	ENSP00000401237:L168F;ENSP00000385903:L161F;ENSP00000393224:L161F;ENSP00000354108:L96F	ENSP00000354108:L96F	L	+	1	0	NAA60	3473507	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	4.419000	0.59835	1.448000	0.47680	0.561000	0.74099	CTC		0.488	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		16	216	0	0	0	1	0	16	216					T	3533506	C	T	3533506	3	4	8	1	0	0	0	0	1	0	0	0	10217	913	32	2	495	2	NAT15	16	3533506	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		3533506	86821247	72	893											
A2BP1	54715	broad.mit.edu	37	chr16	7703894	7703894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggccgcggtcgcaccGtgtacaacaccttcagggcc	13	15	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:7703894G>A	ENST00000550418.1	+	12	1823	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.V284M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	279					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.V299M(2)|p.V279M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGTCGCACCGTGTACAACAC	0.741																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			3	Substitution - Missense(3)	p.V299M(2)|p.V279M(1)	kidney(3)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(850-852)Gtg>Atg		RNA binding protein, fox-1 homolog (C. elegans) 1							11	14	13					16																	7703894		1886	3889	5775	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703894G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.835G>A	16.37:g.7703894G>A	ENSP00000450031:p.Val279Met					RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M	p.V284M			Q9NWB1	RFOX1_HUMAN			9	1147	+			279					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.850G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.811473	0.90707	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.56;1.53;1.49;1.2;1.36;1.52;1.57;1.2	4.25	4.25	0.50352	.	0.206066	0.40385	N	0.001117	T	0.57417	0.2052	M	0.64997	1.995	0.50813	D	0.999893	D;D;D;P;P;D;D;D;D	0.89917	1.0;1.0;1.0;0.746;0.884;1.0;1.0;1.0;1.0	D;D;D;B;P;D;D;D;D	0.87578	0.968;0.998;0.997;0.14;0.618;0.996;0.992;0.994;0.993	T	0.58934	-0.7548	9	.	.	.	-7.8987	17.0189	0.86428	0.0:0.0:1.0:0.0	.	272;236;322;299;299;299;252;279;322	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	279;252;322;322;236;296;279;299;299;299;272;284	ENSP00000450031:V279M;ENSP00000447753:V252M;ENSP00000446842:V322M;ENSP00000391269:V322M;ENSP00000447717:V279M;ENSP00000402745:V299M;ENSP00000309117:V299M;ENSP00000347855:V299M;ENSP00000344196:V284M	.	V	+	1	0	RBFOX1	7643895	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.439000	0.97543	2.076000	0.62316	0.401000	0.26515	GTG		0.741	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		5	53	0	0	0	1	0	5	53					A	7703894	G	A	7703894	3	1	8	1	0	0	0	0	1	0	0	0	3	1145	40	1	960	1	A2BP1	16	7703894	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	4170388	7703894	82650859	73	894											
ASGR2	433	broad.mit.edu	37	chr17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcccaggagttgatgaCcaccaggtgtgcgttctcca	10	14	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	214	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(640-642)Gtc>Atc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						102	88	93					17																	7010342		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7010342C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.640G>A	17.37:g.7010342C>T	ENSP00000370339:p.Val214Ile					ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I|ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I	p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			7	904	-			214			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.640G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969611	0.74246	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40064	N	0.001193	T	0.21962	0.0529	N	0.17594	0.5	0.29055	N	0.88428	D;D;P;P;P	0.63880	0.993;0.977;0.787;0.747;0.894	D;D;P;P;D	0.79108	0.992;0.958;0.799;0.735;0.93	T	0.05818	-1.0862	10	0.13108	T	0.6	.	12.9277	0.58270	0.0:1.0:0.0:0.0	.	190;214;209;195;214	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	I	214;190;214;195	ENSP00000347140:V214I;ENSP00000254850:V190I;ENSP00000370339:V214I;ENSP00000405844:V195I	ENSP00000254850:V190I	V	-	1	0	ASGR2	6951066	0.695000	0.27747	0.999000	0.59377	0.873000	0.50193	0.624000	0.24462	2.175000	0.68902	0.609000	0.83330	GTC		0.607	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		18	205	0	0	0	1	0	18	205					T	7010342	C	T	7010342	3	4	8	1	0	0	0	0	1	0	0	0	1041	507	18	2	307	2	ASGR2	17	7010342	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		7010342	74184868	74	895											
TP53	7157	broad.mit.edu	37	chr17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggttcatgccgcccatGcaggaactgttacacatgta	9	13	1	0	rs397516437|rs375874539		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000269305.4	-	7	915	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*	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.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(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)	TGCCGCCCATGCAGGAACTGT	0.582		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)	ENST00000420246.2		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"		37	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(7)|Unknown(5)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Substitution - coding silent(2)|Complex - deletion inframe(1)	p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(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)	biliary_tract(6)|breast(5)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|liver(2)|cervix(1)|urinary_tract(1)|ovary(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						c.(724-726)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53							140	108	119					17																	7577555		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577555G>T	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.726C>A	17.37:g.7577555G>T	ENSP00000269305:p.Cys242*	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_ENST00000269305.4_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*	p.C242*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	858	-		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 -> 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).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.726C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701385	0.68501	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.558	7.3895	0.26901	0.195:0.0:0.805:0.0	.	.	.	.	X	242;242;242;242;242;242;231;149;110;149	.	ENSP00000269305:C242X	C	-	3	2	TP53	7518280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	1.305000	0.44909	0.462000	0.41574	TGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	156	1	0	1.47244e-24	1	1.60942e-24	35	156					T	7577555	G	T	7577555	4	4	8	1	0	0	0	0	0	1	0	0	16434	1311	46	3	564	3	TP53	17	7577555	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	567213	7577555	73617655	75	896											
FTSJ3	5705	broad.mit.edu	37	chr17	61902464	61902464	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttagcctgaacttcaacctCcttaaaggcaaatttggggt	8	10	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:61902464C>T	ENST00000310144.6	+	0	0				FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.E219K|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ACTTCAACCTCCTTAAAGGCA	0.428																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(655-657)Gag>Aag		FtsJ homolog 3 (E. coli)							88	93	91					17																	61902464		2202	4300	6502	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902464C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902464C>T	Exception_encountered						p.E219K	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			8	1300	-			219					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.655G>A	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378304	0.82682	.	.	ENSG00000108592	ENST00000427159	T	0.38077	1.16	5.04	5.04	0.67666	.	0.053441	0.64402	D	0.000001	T	0.60090	0.2242	M	0.78916	2.43	0.58432	D	0.999995	D	0.65815	0.995	D	0.65874	0.939	T	0.63695	-0.6579	10	0.62326	D	0.03	-23.3955	15.9337	0.79686	0.0:1.0:0.0:0.0	.	219	Q8IY81	RRMJ3_HUMAN	K	219	ENSP00000396673:E219K	ENSP00000396673:E219K	E	-	1	0	FTSJ3	59256196	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.505000	0.66981	2.618000	0.88619	0.563000	0.77884	GAG		0.428	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		20	286	0	0	0	1	0	20	286					T	61902464	C	T	61902464	1	4	8	0	1	0	0	0	0	0	0	0	6116	864	30	2		2	FTSJ3	17	61902464	5'Flank	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	54324909	61902464	19292746	76	897											
TIMM44	10469	broad.mit.edu	37	chr19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctcaaacactttctcctCcttgaacttatctcccgcaa	4	15	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	220					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTTTCTCCTCCTTGAACTTA	0.587																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(658-660)Gag>Aag		translocase of inner mitochondrial membrane 44 homolog (yeast)							116	135	129					19																	7998774		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998774C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.658G>A	19.37:g.7998774C>T	ENSP00000270538:p.Glu220Lys						p.E220K	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			6	926	-			220					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.658G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126410	0.37533	.	.	ENSG00000104980	ENST00000270538	T	0.77098	-1.07	5.22	2.99	0.34606	.	0.198544	0.53938	D	0.000059	T	0.62684	0.2448	L	0.33485	1.01	0.45979	D	0.998796	B	0.16396	0.017	B	0.13407	0.009	T	0.53365	-0.8449	10	0.15952	T	0.53	-30.6154	8.8822	0.35380	0.0:0.7654:0.1496:0.085	.	220	O43615	TIM44_HUMAN	K	220	ENSP00000270538:E220K	ENSP00000270538:E220K	E	-	1	0	TIMM44	7904774	0.545000	0.26449	0.962000	0.40283	0.719000	0.41307	1.125000	0.31332	1.206000	0.43276	0.561000	0.74099	GAG		0.587	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			26	194	0	0	0	1	0	26	194					T	7998774	C	T	7998774	3	4	8	1	0	0	0	0	1	0	0	0	15964	864	30	2	732	2	TIMM44	19	7998774	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		7998774	51130209	77	898											
LRP3	4037	broad.mit.edu	37	chr19	33696978	33696978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtgctacacgcctgcCgaccgctgcaacaaccagaa	10	15	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	434	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACACGCCTGCCGACCGCTGCA	0.667																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1300-1302)gcC>gcT		low density lipoprotein receptor-related protein 3							19	19	19					19																	33696978		2200	4296	6496	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696978C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1302C>T	19.37:g.33696978C>T							p.A434A	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1504	+	Esophageal squamous(110;0.137)		434			LDL-receptor class A 3.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.1302C>T	CCDS12430.1																																																																																				0.667	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			5	48	0	0	0	1	0	5	48					T	33696978	C	T	33696978	2	4	8	1	0	0	0	0	0	0	0	1	8996	639	23	1		1	LRP3	19	33696978	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	25698204	33696978	25432005	78	899											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			13	1247						13	1247	---	---	---	---	-	36255949	CTC	-	36255947	7	5	8	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-2J-AABF-01A-31D-A40W-08	2558969	36255947	22873036	79	900											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgcttcctctctctagccGaaagaaatatgaccccttat	5	13	2	2	rs200631849		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTCTAGCCGAAAGAAATAT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19937	0.0		0.0	False		,,,				2504	0.0					ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(373-375)Cgg>Tgg		sialic acid binding Ig-like lectin 8		G	TRP/ARG	0,4406		0,0,2203	130	128	129		373	-2.7	0	19		129	1,8599		0,1,4299	no	missense	SIGLEC8	NM_014442.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/500	51961269	1,13005	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961269G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.373C>T	19.37:g.51961269G>A	ENSP00000321077:p.Arg125Trp					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W	p.R125W	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	439	-		all_neural(266;0.0199)	125					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.373C>T	CCDS33086.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.84	2.358199	0.41801	0.0	1.16E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.66638	-0.22;-0.22;-0.22	2.56	-2.68	0.06041	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.069320	0.07486	N	0.904738	T	0.81574	0.4851	M	0.87038	2.855	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.87578	0.952;0.998;0.853	T	0.71889	-0.4456	10	0.72032	D	0.01	.	9.4331	0.38622	0.0:0.0:0.7045:0.2955	.	125;125;125	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	W	125	ENSP00000389142:R125W;ENSP00000321077:R125W;ENSP00000339448:R125W	ENSP00000321077:R125W	R	-	1	2	SIGLEC8	56653081	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.251000	0.01186	-0.676000	0.05238	0.398000	0.26397	CGG		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		30	593	0	0	0	1	0	30	593					A	51961269	G	A	51961269	3	1	8	1	0	0	0	0	1	0	0	0	14364	1057	37	1	1154	1	SIGLEC8	19	51961269	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	15705322	51961269	7167714	80	901											
ZNF83	55769	broad.mit.edu	37	chr19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgcaaggtgtgaaatatGatggaagacctttccacata	10	6	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y			P51522	ZNF83_HUMAN	zinc finger protein 83	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTGAAATATGATGGAAGACC	0.418																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(814-816)Cat>Tat		zinc finger protein 83							84	77	80					19																	53117004		2193	4268	6461	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117004G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.814C>T	19.37:g.53117004G>A	ENSP00000472619:p.His272Tyr					ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000601257.1_Intron	p.H272Y			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3067	-			272					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.814C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	0.067	-1.211291	0.01555	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	1.64	-3.27	0.05048	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.16903	0.455	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.46470	-0.9189	9	0.16896	T	0.51	.	1.1943	0.01871	0.4524:0.1528:0.2408:0.154	.	272	P51522	ZNF83_HUMAN	Y	272	ENSP00000445993:H272Y;ENSP00000301096:H272Y;ENSP00000445470:H272Y;ENSP00000440713:H272Y;ENSP00000439681:H272Y	ENSP00000301096:H272Y	H	-	1	0	ZNF83	57808816	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.434000	0.01021	-1.221000	0.02591	0.411000	0.27672	CAT		0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		20	444	0	0	0	1	0	20	444					A	53117004	G	A	53117004	3	1	8	1	0	0	0	0	1	0	0	0	18236	1290	45	2	740	2	ZNF83	19	53117004	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1155735	53117004	6011979	81	902											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					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.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	358	0	0	0	1	0	8	358					A	53855284	G	A	53855284	2	1	8	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	738280	53855284	5273699	82	903											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	372						8	372	---	---	---	---	-	54675749	TCC	-	54675747	7	5	8	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AABF-01A-31D-A40W-08	820463	54675747	4453236	83	904											
NLRP7	199713	broad.mit.edu	37	chr19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatcatctcagcctttgCcatcttacacaattccgtga	4	15	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000590030.1	-	1	299	c.259G>A	c.(259-261)Gca>Aca	p.A87T	NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	87	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGCCTTTGCCATCTTACAC	0.423																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(343-345)Gca>Aca		NLR family, pyrin domain containing 7							142	143	143					19																	55452821		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55452821C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.259G>A	19.37:g.55452821C>T	ENSP00000465520:p.Ala87Thr					NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T	p.A115T			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	745	-			87					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.343G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186220	0.38609	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.38	1.38	0.22167	Pyrin (2);DEATH-like (2);	1.450530	0.05136	N	0.493515	T	0.64757	0.2627	M	0.70595	2.14	0.09310	N	1	D;D;D;P	0.67145	0.996;0.996;0.996;0.947	D;D;D;P	0.69479	0.964;0.951;0.951;0.695	T	0.44892	-0.9298	10	0.72032	D	0.01	.	6.1849	0.20491	0.0:1.0:0.0:0.0	.	115;87;87;87	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	87;87;87;115;87	ENSP00000329568:A87T;ENSP00000409137:A87T;ENSP00000339491:A87T;ENSP00000414273:A115T	ENSP00000329568:A87T	A	-	1	0	NLRP7	60144633	0.030000	0.19436	0.002000	0.10522	0.029000	0.11900	1.832000	0.39151	1.055000	0.40461	0.462000	0.41574	GCA		0.423	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		5	387	0	0	0	1	0	5	387					T	55452821	C	T	55452821	3	4	8	1	0	0	0	0	1	0	0	0	10524	739	26	2	2894	2	NLRP7	19	55452821	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	777074	55452821	3676162	84	905											
ZNF470	388566	broad.mit.edu	37	chr19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacttattcagcataagaGaactcatactggagagagac	10	7	2	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					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.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418																																						ENST00000330619.8																			1	Substitution - Missense(1)	p.R417I(1)	large_intestine(1)	endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1249-1251)aGa>aTa		zinc finger protein 470							82	84	83					19																	57089047		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089047G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1250G>T	19.37:g.57089047G>T	ENSP00000333223:p.Arg417Ile					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	p.R417I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1936	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	417					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1250G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011176	0.35511	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.02446	4.29;4.29	4.26	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.60012	1.86	0.36453	D	0.866185	P	0.39717	0.684	B	0.35510	0.204	T	0.45891	-0.9230	9	0.54805	T	0.06	.	6.2006	0.20573	0.0973:0.0:0.7151:0.1876	.	417	Q6ECI4	ZN470_HUMAN	I	417	ENSP00000375590:R417I;ENSP00000333223:R417I	ENSP00000333223:R417I	R	+	2	0	ZNF470	61780859	0.612000	0.27000	0.991000	0.47740	0.222000	0.24845	3.579000	0.53900	0.965000	0.38133	0.650000	0.86243	AGA		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		16	324	1	0	1.5739e-10	1	1.69404e-10	16	324					T	57089047	G	T	57089047	3	4	8	1	0	0	0	0	1	0	0	0	17982	942	33	3	1264	3	ZNF470	19	57089047	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1636226	57089047	2039936	85	906											
CDC25B	994	broad.mit.edu	37	chr20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcagggaacgagaccGtgctgtcaacgactacccca	9	13	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	506	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGAGACCGTGCTGTCAAC	0.592																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1516-1518)cGt>cAt		cell division cycle 25B							173	151	159					20																	3785242		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785242G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1517G>A	20.37:g.3785242G>A	ENSP00000245960:p.Arg506His					CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H	p.R506H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			15	2214	+			506			Rhodanese.		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1517G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895500	0.72639	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.15	4.19	0.49359	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	H	0.97365	3.99	0.58432	D	0.999999	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	0.76323	-0.3001	10	0.87932	D	0	-33.0368	12.1596	0.54098	0.0851:0.0:0.9149:0.0	.	415;428;442;465;492;506	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	442;415;506;492;465	ENSP00000339125:R442H;ENSP00000368918:R415H;ENSP00000245960:R506H;ENSP00000405972:R492H;ENSP00000339170:R465H	ENSP00000245960:R506H	R	+	2	0	CDC25B	3733242	1.000000	0.71417	0.201000	0.23476	0.563000	0.35712	9.313000	0.96297	1.295000	0.44724	0.563000	0.77884	CGT		0.592	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		110	560	0	0	0	1	0	110	560					A	3785242	G	A	3785242	3	1	8	1	0	0	0	0	1	0	0	0	3072	1145	40	1	1575	1	CDC25B	20	3785242	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		3785242	59240278	86	907											
NFS1	9054	broad.mit.edu	37	chr20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacctcatttctcgaagaCgcttcacatgctgaatgcat	6	11	3	2	rs188144557		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	432					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TTCTCGAAGACGCTTCACATG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19113	0.001		0.0	False		,,,				2504	0.0					ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1294-1296)cGt>cAt		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						116	96	103					20																	34260692		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34260692C>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1295G>A	20.37:g.34260692C>T	ENSP00000363205:p.Arg432His					NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H	p.R432H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		12	1365	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		432					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.1295G>A	CCDS13262.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.6	4.850104	0.91277	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	T;T;T;T;T	0.48522	1.78;2.8;2.8;0.81;1.78	5.26	4.32	0.51571	Pyridoxal phosphate-dependent transferase, major domain (1);	0.050804	0.85682	D	0.000000	T	0.67850	0.2937	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.66497	0.944;0.651	T	0.73285	-0.4031	10	0.62326	D	0.03	-6.6659	14.1886	0.65623	0.0:0.9281:0.0:0.0719	.	381;432	F5GYK5;Q9Y697	.;NFS1_HUMAN	H	432;372;372;230;381	ENSP00000363205:R432H;ENSP00000363198:R372H;ENSP00000380570:R372H;ENSP00000438594:R230H;ENSP00000440897:R381H	ENSP00000363198:R372H	R	-	2	0	NFS1	33724106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.285000	0.78660	1.450000	0.47717	0.563000	0.77884	CGT		0.458	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		15	185	0	0	0	1	0	15	185					T	34260692	C	T	34260692	3	4	8	1	0	0	0	0	1	0	0	0	10427	536	19	1	86	1	NFS1	20	34260692	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	30475450	34260692	28764828	87	908											
KIAA1755	85449	broad.mit.edu	37	chr20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctcctcctccagggTggggcctctttctggggagc	17	12	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	554										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCTCCAGGGTGGGGCCTCTT	0.617																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1660-1662)Acc>Gcc		KIAA1755							41	45	43					20																	36868017		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36868017T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1660A>G	20.37:g.36868017T>C	ENSP00000279024:p.Thr554Ala						p.T554A	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			4	1931	-		Myeloproliferative disorder(115;0.00874)	554					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1660A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	0.464	-0.887640	0.02511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05025	3.51	4.43	-5.28	0.02755	.	1.521150	0.03937	N	0.286316	T	0.02688	0.0081	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44174	-0.9345	10	0.10111	T	0.7	.	6.8638	0.24082	0.0:0.3583:0.4205:0.2212	.	554	Q5JYT7	K1755_HUMAN	A	554;101	ENSP00000279024:T554A	ENSP00000279024:T554A	T	-	1	0	KIAA1755	36301431	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-2.726000	0.00808	-0.948000	0.03668	0.374000	0.22700	ACC		0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		15	263	0	0	0	1	0	15	263					C	36868017	T	C	36868017	3	2	8	1	0	0	0	0	1	0	0	0	8287	1696	59	4	1986	4	KIAA1755	20	36868017	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	2607325	36868017	26157503	88	909											
NTSR1	4923	broad.mit.edu	37	chr20	61341006	61341006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctactacttcctgcgcgaCgcctgcacctacgccacggc	10	18	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	149					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCCTGCGCGACGCCTGCACCT	0.662																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(445-447)gaC>gaT		neurotensin receptor 1 (high affinity)							53	51	52					20																	61341006		2202	4299	6501	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341006C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.447C>T	20.37:g.61341006C>T							p.D149D	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	818	+	Breast(26;3.65e-08)		149					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.447C>T	CCDS13502.1																																																																																				0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			18	265	0	0	0	1	0	18	265					T	61341006	C	T	61341006	2	4	8	1	0	0	0	0	0	0	0	1	10752	535	19	1		1	NTSR1	20	61341006	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	24472989	61341006	1684514	89	910											
DIDO1	11083	broad.mit.edu	37	chr20	61511164	61511164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcactggaggagagcgcGgagggcggcccggcctcctc	19	14	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6142-6144)tcC>tcT		death inducer-obliterator 1							36	44	41					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	20.37:g.61511164G>A						DIDO1_ENST00000395343.1_Silent_p.S2048S	p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6469	-	Breast(26;5.68e-08)		2048					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6144C>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		27	361	0	0	0	1	0	27	361					A	61511164	G	A	61511164	2	1	8	1	0	0	0	0	0	0	0	1	4538	1103	39	1		1	DIDO1	20	61511164	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	170158	61511164	1514356	90	911											
RFPL1	5988	broad.mit.edu	37	chr22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactactgggaggtggacGtgggaacaagcacagaatgg	16	8	0	1	rs577925684		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GGAGGTGGACGTGGGAACAAG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(556-558)Gtg>Atg		ret finger protein-like 1							88	87	88					22																	29837713		2203	4296	6499	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837713G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.556G>A	22.37:g.29837713G>A	ENSP00000346342:p.Val186Met					RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	p.V186M	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	765	+			186			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.556G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436705	0.43224	.	.	ENSG00000128250	ENST00000354373	T	0.74526	-0.85	0.911	-0.286	0.12862	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80737	0.4680	M	0.72894	2.215	0.23943	N	0.9964	D	0.76494	0.999	D	0.68353	0.957	T	0.67317	-0.5701	9	0.66056	D	0.02	.	5.1838	0.15174	0.2409:0.0:0.7591:0.0	.	186	O75677	RFPL1_HUMAN	M	186	ENSP00000346342:V186M	ENSP00000346342:V186M	V	+	1	0	RFPL1	28167713	1.000000	0.71417	0.005000	0.12908	0.397000	0.30659	2.655000	0.46707	-0.047000	0.13423	0.184000	0.17185	GTG		0.562	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		31	342	0	0	0	1	0	31	342					A	29837713	G	A	29837713	3	1	8	1	0	0	0	0	1	0	0	0	13303	1145	40	1	562	1	RFPL1	22	29837713	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		29837713	21466853	91	912											
CACNA1I	8911	broad.mit.edu	37	chr22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtcctccgagtcttgCggctcctgcgcaccctacgc	13	16	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000402142.3	+	21	3823	c.3823C>T	c.(3823-3825)Cgg>Tgg	p.R1275W	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1275					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGAGTCTTGCGGCTCCTGCG	0.637																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3841-3843)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						55	61	59					22																	40060900		2039	4170	6209	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060900C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3823C>T	22.37:g.40060900C>T	ENSP00000385019:p.Arg1275Trp					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1275W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W	p.R1281W			Q9P0X4	CAC1I_HUMAN			24	3841	+	Melanoma(58;0.0749)		1275					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3841C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198582	0.58126	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.3	3.27	0.37495	Ion transport (1);	0.062424	0.64402	D	0.000005	D	0.99548	0.9838	H	0.99732	4.735	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97772	1.0227	10	0.87932	D	0	.	13.5507	0.61730	0.1567:0.8433:0.0:0.0	.	1240;1275;1240;1275	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	1275;1240;1275;1240;1281;1240	ENSP00000385019:R1275W;ENSP00000384093:R1240W;ENSP00000383887:R1275W;ENSP00000385680:R1240W;ENSP00000337829:R1281W;ENSP00000383028:R1240W	ENSP00000337829:R1281W	R	+	1	2	CACNA1I	38390846	0.828000	0.29307	1.000000	0.80357	0.393000	0.30537	0.692000	0.25482	0.791000	0.33826	0.462000	0.41574	CGG		0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		5	181	0	0	0	1	0	5	181					T	40060900	C	T	40060900	3	4	8	1	0	0	0	0	1	0	0	0	2553	759	27	1	3905	1	CACNA1I	22	40060900	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	10223187	40060900	11243666	92	913											
PKDREJ	10343	broad.mit.edu	37	chr22	46654414	46654414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgacttgtcatagccGtaagtcagtccataaaatac	6	9	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4804-4806)taC>taT		polycystin (PKD) family receptor for egg jelly							97	91	93					22																	46654414		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654414G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4806C>T	22.37:g.46654414G>A							p.Y1602Y	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4805	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1602					B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.4806C>T	CCDS14073.1																																																																																				0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		4	199	0	0	0	1	0	4	199					A	46654414	G	A	46654414	2	1	8	1	0	0	0	0	0	0	0	1	12012	1140	40	1		1	PKDREJ	22	46654414	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	6593514	46654414	4650152	93	914											
PHKA2	5256	broad.mit.edu	37	chrX	18961884	18961884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgacttgcgtcctccatGggctccaaaaaggtccagtt	9	13	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	221					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTCCTCCATGGGCTCCAAAA	0.458																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(661-663)Cat>Tat		phosphorylase kinase, alpha 2 (liver)							198	162	174					X																	18961884		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18961884G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.661C>T	X.37:g.18961884G>A	ENSP00000369274:p.His221Tyr						p.H221Y	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			7	1326	-	Hepatocellular(33;0.183)		221					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.661C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579135	0.46006	.	.	ENSG00000044446	ENST00000379942	D	0.88975	-2.45	5.43	4.57	0.56435	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.141328	0.64402	N	0.000005	D	0.86973	0.6062	M	0.72894	2.215	0.53005	D	0.999968	B	0.02656	0.0	B	0.10450	0.005	T	0.82733	-0.0311	10	0.49607	T	0.09	-6.0265	9.6509	0.39897	0.0781:0.1382:0.7837:0.0	.	221	P46019	KPB2_HUMAN	Y	221	ENSP00000369274:H221Y	ENSP00000369274:H221Y	H	-	1	0	PHKA2	18871805	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.915000	0.56409	1.067000	0.40740	0.600000	0.82982	CAT		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		9	352	0	0	0	1	0	9	352					A	18961884	G	A	18961884	3	1	8	1	0	0	0	0	1	0	0	0	11886	1348	47	2	3154	2	PHKA2	23	18961884	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		18961884	136308676	94	915											
ZNF182	7569	broad.mit.edu	37	chrX	47835701	47835701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgtacatttatagggtttCtctccagtatgagttctttg	8	7	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	595					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.E595D(1)|p.E576D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATAGGGTTTCTCTCCAGTAT	0.443																																						ENST00000396965.1																			2	Substitution - Missense(2)	p.E595D(1)|p.E576D(1)	endometrium(2)	endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(1783-1785)gaG>gaC		zinc finger protein 182							119	102	108					X																	47835701		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47835701C>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1785G>C	X.37:g.47835701C>G	ENSP00000380165:p.Glu595Asp					ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D	p.E595D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	2135	-			595					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1785G>C	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395798	0.42512	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.26810	1.71;1.71;1.71	4.86	4.86	0.63082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.48935	1.535	0.34356	D	0.690386	D;P;D	0.60575	0.987;0.861;0.988	P;P;P	0.59595	0.857;0.795;0.86	T	0.53648	-0.8409	9	0.66056	D	0.02	.	14.5199	0.67844	0.0:1.0:0.0:0.0	.	575;576;595	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	576;595;595	ENSP00000366142:E576D;ENSP00000380165:E595D;ENSP00000306351:E595D	ENSP00000306351:E595D	E	-	3	2	ZNF182	47720645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.087000	0.30865	2.397000	0.81536	0.544000	0.68410	GAG		0.443	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		31	191	0	0	0	1	0	31	191					G	47835701	C	G	47835701	3	3	8	1	0	0	0	0	1	0	0	0	17803	912	32	5	138	5	ZNF182	23	47835701	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	28873817	47835701	107434859	95	916											
BRWD3	254065	broad.mit.edu	37	chrX	79938009	79938009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgctgcttcttagaCgttttctgtaccgtggcctt	9	11	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1451					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTTCTTAGACGTTTTCTGTA	0.368																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4351-4353)cGt>cAt		bromodomain and WD repeat domain containing 3							304	238	260					X																	79938009		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79938009C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4352G>A	X.37:g.79938009C>T	ENSP00000362372:p.Arg1451His					BRWD3_ENST00000473691.1_5'UTR	p.R1451H	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			38	4568	-			1451					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4352G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031405	0.93575	.	.	ENSG00000165288	ENST00000373275	T	0.57595	0.39	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.38175	1.15	0.51012	D	0.999905	D	0.76494	0.999	D	0.76071	0.987	T	0.61549	-0.7040	9	.	.	.	-11.5158	17.1252	0.86712	0.0:1.0:0.0:0.0	.	1451	Q6RI45	BRWD3_HUMAN	H	1451	ENSP00000362372:R1451H	.	R	-	2	0	BRWD3	79824665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.904000	0.75708	2.223000	0.72356	0.415000	0.27848	CGT		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	390	0	0	0	1	0	12	390					T	79938009	C	T	79938009	3	4	8	1	0	0	0	0	1	0	0	0	1530	536	19	1	1072	1	BRWD3	23	79938009	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	32102308	79938009	75332551	96	917											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	363	0	0	0	1	0	6	363					G	21806573	A	G	21806573	3	3	9	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08		21806573	227444048	1	918											
IL28RA	163702	broad.mit.edu	37	chr1	24495932	24495932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggtaatccaggtattcGgactccacccagggggactt	11	10	0	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:24495932G>A	ENST00000327535.1	-	3	354	c.342C>T	c.(340-342)tcC>tcT	p.S114S	IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	114	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CCAGGTATTCGGACTCCACCC	0.537																																						ENST00000327535.1																			0											c.(340-342)tcC>tcT		interferon, lambda receptor 1							82	75	78					1																	24495932		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24495932G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.342C>T	1.37:g.24495932G>A						IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S	p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					3	354	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.342C>T	CCDS248.1																																																																																				0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		25	82	0	0	0	1	0	25	82					A	24495932	G	A	24495932	2	1	9	1	0	0	0	0	0	0	0	1	7714	1103	39	1		1	IL28RA	1	24495932	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	2689359	24495932	224754689	2	919											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	124						8	124	---	---	---	---	-	77334279	GCA	-	77334277	7	5	9	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-2J-AABH-01A-21D-A40W-08	52838345	77334277	171916344	3	920											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260	258	259					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		9	1303	0	0	0	1	0	9	1303					A	152382749	G	A	152382749	3	1	9	1	0	0	0	0	1	0	0	0	3901	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	75048472	152382749	96867872	4	921											
ATP8B2	89872	broad.mit.edu	37	chr1	154300339	154300339	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcctttccctacaggCatgggcttctgtaaagtctc	7	13	4	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:154300339C>A	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Splice_Site|ATP8B2_ENST00000368487.3_Intron	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTACAGGCATGGGCTTCT	0.557																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e1+2		ATPase, aminophospholipid transporter, class I, type 8B, member 2							178	168	172					1																	154300339		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300339C>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300339C>A						ATP8B2_ENST00000368487.3_Intron		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	62	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							Q5VYD3|Q5VYD4|Q8NG70	Splice_Site	SNP	ENST00000324978.3	37		CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	3.992	-0.004367	0.07773	.	.	ENSG00000143515	ENST00000368489	.	.	.	3.21	-0.116	0.13555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9415	0.03348	0.2644:0.3646:0.0:0.371	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8B2	152566963	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.189000	0.09629	-0.019000	0.14055	0.455000	0.32223	.		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		7	551	1	0	0.27861	1	0.280822	7	551					A	154300339	C	A	154300339	1	1	9	0	1	0	0	0	0	0	0	0	1196	724	25	3		3	ATP8B2	1	154300339	IGR	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1917590	154300339	94950282	5	922											
HMCN1	83872	broad.mit.edu	37	chr1	186050343	186050343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctttgttagtgccGccaattatcaagggagcaaa	9	9	1	0	rs532472487		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				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)			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						TGTTAGTGCCGCCAATTATCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4																			0				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						c.(8602-8604)ccG>ccA		hemicentin 1							164	161	162					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050343G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8604G>A	1.37:g.186050343G>A						HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			56	8833	+			2868			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8604G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	898	0	0	0	1	0	8	898					A	186050343	G	A	186050343	2	1	9	1	0	0	0	0	0	0	0	1	7250	1074	38	1		1	HMCN1	1	186050343	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	31750004	186050343	63200278	6	923											
CNIH3	149111	broad.mit.edu	37	chr1	224922304	224922304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagctcagaactagcctaCgacccaccggtggtcatgaa	10	12	2	2	rs200710456		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	117					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21337	0.001		0.0	False		,,,				2504	0.0					ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.(349-351)taC>taT		cornichon family AMPA receptor auxiliary protein 3							172	132	146					1																	224922304		2203	4300	6503	SO:0001819	synonymous_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224922304C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.351C>T	1.37:g.224922304C>T							p.Y117Y	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	5	1233	+	Breast(184;0.218)		117						Silent	SNP	ENST00000272133.3	37	c.351C>T	CCDS1544.1																																																																																				0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		58	240	0	0	0	1	0	58	240					T	224922304	C	T	224922304	2	4	9	1	0	0	0	0	0	0	0	1	3613	547	19	1		1	CNIH3	1	224922304	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	38871961	224922304	24328317	7	924											
RYR2	6262	broad.mit.edu	37	chr1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatggggacagccattccGactacgccatgtcacaacag	10	12	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			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)			CAGCCATTCCGACTACGCCAT	0.418																																						ENST00000366574.2																			0				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						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165	161	162					1																	237586430		1934	4135	6069	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.chr1:237586430G>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.887G>A	1.37:g.237586430G>A	ENSP00000355533:p.Arg296Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	p.R296Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	296			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.887G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	RYR2	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	481	0	0	0	1	0	15	481					A	237586430	G	A	237586430	3	1	9	1	0	0	0	0	1	0	0	0	13819	1058	37	1	933	1	RYR2	1	237586430	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	12664126	237586430	11664191	8	925											
ADAM17	6868	broad.mit.edu	37	chr2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcaactctgtcaattagcTctatctgtgtgtatttaaaa	5	8	5	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	253	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCAATTAGCTCTATCTGTGT	0.333																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(757-759)gAg>gTg		ADAM metallopeptidase domain 17							136	134	135					2																	9663463		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9663463T>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.758A>T	2.37:g.9663463T>A	ENSP00000309968:p.Glu253Val					ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	7	940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		253			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.758A>T	CCDS1665.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.180382|4.180382	0.78677|0.78677	.|.	.|.	ENSG00000151694|ENSG00000151694	ENST00000310823;ENST00000497134|ENST00000538558	D;D|.	0.87650|.	-2.28;-2.28|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	P;P|.	0.51351|.	0.944;0.944|.	P;P|.	0.54629|.	0.757;0.757|.	T|T	0.78081|0.78081	-0.2343|-0.2343	10|6	0.56958|0.59425	D|D	0.05|0.04	.|.	14.6645|14.6645	0.68896|0.68896	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253;253|.	B2RNB2;P78536|.	.;ADA17_HUMAN|.	V|S	253|256	ENSP00000309968:E253V;ENSP00000418728:E253V|.	ENSP00000309968:E253V|ENSP00000439780:R256S	E|R	-|-	2|3	0|2	ADAM17|ADAM17	9580914|9580914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.655000|7.655000	0.83696|0.83696	1.927000|1.927000	0.55829|0.55829	0.402000|0.402000	0.26972|0.26972	GAG|AGA		0.333	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			72	226	0	0	0	1	0	72	226					A	9663463	T	A	9663463	3	1	9	1	0	0	0	0	1	0	0	0	238	1551	54	5	1768	5	ADAM17	2	9663463	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		9663463	233535910	9	926											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	674	0	0	0	1	0	8	674					T	27324303	C	T	27324303	3	4	9	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	17660840	27324303	215875070	10	927											
BCL11A	53335	broad.mit.edu	37	chr2	60688625	60688625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggatcaggttggggtcGttctcgctcttgaacttggc	14	10	3	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000356842.4_Silent_p.N474N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	474					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTTGGGGTCGTTCTCGCTCT	0.642			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1420-1422)aaC>aaT		B-cell CLL/lymphoma 11A (zinc finger protein)							24	25	25					2																	60688625		2202	4300	6502	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688625G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1422C>T	2.37:g.60688625G>A						BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N	p.N474N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1649	-			474					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1422C>T	CCDS1862.1																																																																																				0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		20	65	0	0	0	1	0	20	65					A	60688625	G	A	60688625	2	1	9	1	0	0	0	0	0	0	0	1	1364	1136	40	1		1	BCL11A	2	60688625	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	33364322	60688625	182510748	11	928											
CKAP2L	150468	broad.mit.edu	37	chr2	113498574	113498574	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagcaactaaagagtcAgaagtaatccctgtgtatgt	9	7	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:113498574A>T	ENST00000302450.6	-	8	1911	c.1833T>A	c.(1831-1833)tcT>tcA	p.S611S	CKAP2L_ENST00000541405.1_Silent_p.S446S|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	611						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTAAAGAGTCAGAAGTAATCC	0.348																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1336-1338)tcT>tcA		cytoskeleton associated protein 2-like							140	128	132					2																	113498574		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113498574A>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1833T>A	2.37:g.113498574A>T						CKAP2L_ENST00000302450.6_Silent_p.S611S|NT5DC4_ENST00000327581.4_Intron	p.S446S			Q8IYA6	CKP2L_HUMAN			8	1861	-			611					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.1338T>A	CCDS2100.1																																																																																				0.348	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	359	0	0	0	1	0	5	359					T	113498574	A	T	113498574	2	4	9	1	0	0	0	0	0	0	0	1	3452	175	7	5		5	CKAP2L	2	113498574	Silent	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	52809949	113498574	129700799	12	929											
SCN1A	6323	broad.mit.edu	37	chr2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgtgctcatcatctgCgaagtcgttctcagatccca	10	12	4	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591					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)			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)	TCATCATCTGCGAAGTCGTTC	0.517																																						ENST00000423058.2																			0				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						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						151	137	141					2																	166900451		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900451C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1771G>A	2.37:g.166900451C>T	ENSP00000303540:p.Ala591Thr					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T	p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1788	-			591					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1771G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	SCN1A	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		62	242	0	0	0	1	0	62	242					T	166900451	C	T	166900451	3	4	9	1	0	0	0	0	1	0	0	0	13964	768	27	1	4322	1	SCN1A	2	166900451	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	53401877	166900451	76298922	13	930											
LRP2	4036	broad.mit.edu	37	chr2	170062574	170062574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgctcttggttttggaacGcgggctatcacagtgcggtt	13	8	2	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2505R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTTTTGGAACGCGGGCTATCA	0.428																																						ENST00000263816.3																			1	Substitution - coding silent(1)	p.R2505R(1)	endometrium(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7513-7515)cgC>cgT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						153	147	149					2																	170062574		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062574G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7515C>T	2.37:g.170062574G>A							p.R2505R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7800	-			2505					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7515C>T	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		100	342	0	0	0	1	0	100	342					A	170062574	G	A	170062574	2	1	9	1	0	0	0	0	0	0	0	1	8994	1074	38	1		1	LRP2	2	170062574	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	3162123	170062574	73136799	14	931											
ANKRD44	91526	broad.mit.edu	37	chr2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggccgttcagagccGcatggtgcaaggctgtgcgc	15	13	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	147										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGAGCCGCATGGTGCAA	0.542																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(364-366)gCg>gTg		ankyrin repeat domain 44							96	93	94					2																	197990583		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990583G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.365C>T	2.37:g.197990583G>A	ENSP00000331516:p.Ala122Val					ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V	p.A122V			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	441	-			147					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.488319	0.96323	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;D;D;D;D;T;D	0.81739	-0.26;-1.53;-1.53;-1.53;-1.53;-1.29;-1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	D	0.93967	0.7246	10	0.87932	D	0	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	75;147	F5H682;Q8N8A2-3	.;.	V	139;122;122;122;147;75;147	ENSP00000282272:A139V;ENSP00000331516:A122V;ENSP00000402420:A122V;ENSP00000338794:A122V;ENSP00000387141:A147V;ENSP00000437825:A75V;ENSP00000387233:A147V	ENSP00000282272:A139V	A	-	2	0	ANKRD44	197698828	1.000000	0.71417	0.368000	0.25939	0.860000	0.49131	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GCG		0.542	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		5	388	0	0	0	1	0	5	388					A	197990583	G	A	197990583	3	1	9	1	0	0	0	0	1	0	0	0	672	1087	38	1	2482	1	ANKRD44	2	197990583	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	27928009	197990583	45208790	15	932											
TUBA4A	7277	broad.mit.edu	37	chr2	220115248	220115248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtcgaacttgtggtcCaggcgggcccaggcctcggc	15	13	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000248437.4	-	4	1346	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	TUBA4A_ENST00000498660.1_5'Flank|TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	391					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTGTGGTCCAGGCGGGCCC	0.637																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1126-1128)ctG>ctA		tubulin, alpha 4a							101	89	93					2																	220115248		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115248C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1173G>A	2.37:g.220115248C>T						TUBA4A_ENST00000248437.4_Silent_p.L391L	p.L376L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1683	-		Renal(207;0.0474)	391					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.1128G>A	CCDS2438.1																																																																																				0.637	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		68	285	0	0	0	1	0	68	285					T	220115248	C	T	220115248	2	4	9	1	0	0	0	0	0	0	0	1	16803	581	21	2		2	TUBA4A	2	220115248	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	22124665	220115248	23084125	16	933											
SLC4A3	6508	broad.mit.edu	37	chr2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgaccccttgctgCggacgggctcggtatttggg	15	10	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	677					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)			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)		CCCCTTGCTGCGGACGGGCTC	0.642																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2029-2031)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 3							33	34	34					2																	220500451		2203	4299	6502	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220500451C>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.2029C>T	2.37:g.220500451C>T	ENSP00000350756:p.Arg677Trp					SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W	p.R677W			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)	14	2541	+		Renal(207;0.0183)	677					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2029C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533460	0.85812	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;D;P	0.65010	0.857;0.931;0.886	D	0.91234	0.5016	10	0.87932	D	0	.	14.3747	0.66865	0.1482:0.8518:0.0:0.0	.	381;677;704	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	677;677;704;704;677	ENSP00000350756:R677W;ENSP00000362865:R677W;ENSP00000273063:R704W;ENSP00000362867:R704W;ENSP00000314006:R677W	ENSP00000273063:R704W	R	+	1	2	SLC4A3	220208695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.201000	0.51059	2.264000	0.75181	0.643000	0.83706	CGG		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	61	0	0	0	1	0	4	61					T	220500451	C	T	220500451	3	4	9	1	0	0	0	0	1	0	0	0	14705	759	27	1	2160	1	SLC4A3	2	220500451	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	385203	220500451	22698922	17	934											
IRS1	3667	broad.mit.edu	37	chr2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgatcggcgggtcagccCcacctggctgggcgggggat	19	12	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.5	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	298	Ser-rich.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTCAGCCCCACCTGGCTG	0.687											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(892-894)Ggg>Agg		insulin receptor substrate 1							37	46	43					2																	227662563		2201	4297	6498	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662563C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.892G>A	2.37:g.227662563C>T	ENSP00000304895:p.Gly298Arg		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.G298R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1912	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	298			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.892G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000169047	ENST00000305123	T	0.70164	-0.46	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.82756	0.5106	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83805	0.0238	10	0.72032	D	0.01	-23.2391	19.7366	0.96208	0.0:1.0:0.0:0.0	.	298	P35568	IRS1_HUMAN	R	298	ENSP00000304895:G298R	ENSP00000304895:G298R	G	-	1	0	IRS1	227370807	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.667000	0.90743	0.462000	0.41574	GGG		0.687	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		79	328	0	0	0	1	0	79	328					T	227662563	C	T	227662563	3	4	9	1	0	0	0	0	1	0	0	0	7870	623	22	2	2840	2	IRS1	2	227662563	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	7162112	227662563	15536810	18	935											
SP100	6672	broad.mit.edu	37	chr2	231380272	231380273	+	Frame_Shift_Ins	INS	-	-	A													aaagagagttgtcaaggctgINSaaaaaagcaagaaaaagaag							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:231380272_231380273insA	ENST00000264052.5	+	25	2912_2913	c.2557_2558insA	c.(2557-2559)gaafs	p.E853fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	853					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		tgtcaaggctgaaaaaagcaag	0.366																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2557-2559)aaafs		SP100 nuclear antigen																																				SO:0001589	frameshift_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380272_231380273insA	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2563dupA	2.37:g.231380278_231380278dupA	ENSP00000264052:p.Glu853fs					SP100_ENST00000340126.4_Intron	p.K853fs	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2912_2913	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	853					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Ins	INS	ENST00000264052.5	37	c.2557_2558insA	CCDS2477.1																																																																																				0.366	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		14	41						14	41	---	---	---	---	A	231380273	-	A	231380272	7	5	9	1	0	1	1	0	0	0	0	0	15010	1291	45	0	2655	0	SP100	2	231380272	Frame_Shift_Ins	INS	-	TCGA-2J-AABH-01A-21D-A40W-08	3717709	231380272	11819101	19	936											
VEPH1	79674	broad.mit.edu	37	chr3	156978980	156978980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcttgggcaactgccacGttgatgcactggagccattc	12	11	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAACTGCCACGTTGATGCACT	0.448																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2443-2445)aaC>aaT		ventricular zone expressed PH domain-containing 1							147	133	138					3																	156978980		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156978980G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2445C>T	3.37:g.156978980G>A						RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N	p.N815N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2752	-			815			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2445C>T	CCDS3179.1																																																																																				0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		77	236	0	0	0	1	0	77	236					A	156978980	G	A	156978980	2	1	9	1	0	0	0	0	0	0	0	1	17208	1136	40	1		1	VEPH1	3	156978980	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		156978980	41043450	20	937											
MAN2B2	23324	broad.mit.edu	37	chr4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctcggtgtctcggtgcaGtatgccacgctgggcgacta	15	11	1	0	rs533100135		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	321					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTCGGTGCAGTATGCCACGC	0.597																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(961-963)caG>caC		mannosidase, alpha, class 2B, member 2							128	96	107					4																	6596365		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6596365G>C	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.963G>C	4.37:g.6596365G>C	ENSP00000285599:p.Gln321His					MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	p.Q321H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			7	999	+			321					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.963G>C	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.976|5.976	0.364000|0.364000	0.11296|0.11296	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;T|.	0.75477|.	-0.94;-0.94|.	4.52|4.52	2.36|2.36	0.29203|0.29203	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.424218|.	0.26072|.	N|.	0.026512|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.70842|0.70842	2.15|2.15	0.37979|0.37979	D|D	0.93354|0.93354	B;B;B|.	0.18310|.	0.012;0.012;0.027|.	B;B;B|.	0.24848|.	0.056;0.037;0.043|.	T|T	0.62793|0.62793	-0.6779|-0.6779	10|5	0.16896|.	T|.	0.51|.	-10.2461|-10.2461	6.7447|6.7447	0.23454|0.23454	0.195:0.1512:0.6539:0.0|0.195:0.1512:0.6539:0.0	.|.	270;321;321|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	321;270|320	ENSP00000285599:Q321H;ENSP00000423129:Q270H|.	ENSP00000285599:Q321H|.	Q|S	+|+	3|2	2|0	MAN2B2|MAN2B2	6647266|6647266	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.187000|0.187000	0.23431|0.23431	4.173000|4.173000	0.58249|0.58249	0.891000|0.891000	0.36235|0.36235	0.543000|0.543000	0.68304|0.68304	CAG|AGT		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		35	106	0	0	0	1	0	35	106					C	6596365	G	C	6596365	3	2	9	1	0	0	0	0	1	0	0	0	9258	1020	36	5	989	5	MAN2B2	4	6596365	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		6596365	184557911	21	938											
SORCS2	57537	broad.mit.edu	37	chr4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccacgggtctctgaccGtgcaggacgattacatcttc	10	12	2	2	rs377584831		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	349					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTGACCGTGCAGGACGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17701	0.0		0.0	False		,,,				2504	0.0					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1045-1047)Gtg>Atg		sortilin-related VPS10 domain containing receptor 2		G	MET/VAL	0,3958		0,0,1979	61	61	61		1045	3.1	0.7	4		61	1,8329		0,1,4164	no	missense	SORCS2	NM_020777.2	21	0,1,6143	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	349/1160	7666172	1,12287	1979	4165	6144	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666172G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1045G>A	4.37:g.7666172G>A	ENSP00000422185:p.Val349Met					SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	p.V349M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			7	1154	+			349					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1045G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717578	0.48622	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.49139	0.79;0.79	4.82	3.07	0.35406	VPS10 (1);	0.297174	0.26539	N	0.023820	T	0.59059	0.2166	M	0.65975	2.015	0.48236	D	0.999617	D;D	0.76494	0.997;0.999	P;P	0.61328	0.808;0.887	T	0.56098	-0.8035	10	0.46703	T	0.11	.	9.0836	0.36567	0.0834:0.1487:0.7679:0.0	.	177;349	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	349;177	ENSP00000422185:V349M;ENSP00000329124:V177M	ENSP00000329124:V177M	V	+	1	0	SORCS2	7717072	1.000000	0.71417	0.695000	0.30226	0.364000	0.29643	4.341000	0.59335	0.443000	0.26582	0.655000	0.94253	GTG		0.532	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		27	102	0	0	0	1	0	27	102					A	7666172	G	A	7666172	3	1	9	1	0	0	0	0	1	0	0	0	14981	1145	40	1	1071	1	SORCS2	4	7666172	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	1069807	7666172	183488104	22	939											
MTMR12	54545	broad.mit.edu	37	chr5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcccctaggtccacgaactCatcttctcgtttggccaaat	6	14	3	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2218-2220)Gag>Aag		myotubularin related protein 12							154	135	142					5																	32229910		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32229910C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2218G>A	5.37:g.32229910C>T	ENSP00000371577:p.Glu740Lys					MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	p.E740K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2388	-			740					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.2218G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588664	0.86851	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.97328	-4.34;-3.66;-3.8	5.02	5.02	0.67125	.	0.351538	0.29480	N	0.012035	D	0.97071	0.9043	L	0.27053	0.805	0.32367	N	0.556418	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.80764	0.99;0.994;0.985	D	0.97979	1.0348	10	0.87932	D	0	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	630;686;740	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	686;740;630	ENSP00000280285:E686K;ENSP00000371577:E740K;ENSP00000264934:E630K	ENSP00000264934:E630K	E	-	1	0	MTMR12	32265667	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.863000	0.69568	2.327000	0.79052	0.462000	0.41574	GAG		0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		59	177	0	0	0	1	0	59	177					T	32229910	C	T	32229910	3	4	9	1	0	0	0	0	1	0	0	0	9982	835	29	2	29	2	MTMR12	5	32229910	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		32229910	148685350	23	940											
ENC1	8507	broad.mit.edu	37	chr5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtacgggacagtggtgaTgctgttccacacgtctaatg	13	9	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	568				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACAGTGGTGATGCTGTTCCAC	0.473																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1702-1704)Atc>Gtc		ectodermal-neural cortex 1 (with BTB domain)							113	86	95					5																	73930609		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73930609T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1702A>G	5.37:g.73930609T>C	ENSP00000306356:p.Ile568Val					ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	p.I568V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2832	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	568	YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).				B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1702A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471920	0.12461	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	N	0.05124	-0.11	0.54753	D	0.999989	B	0.10296	0.003	B	0.14023	0.01	T	0.45160	-0.9280	10	0.02654	T	1	.	11.5467	0.50698	0.0:0.0698:0.0:0.9302	.	568	O14682	ENC1_HUMAN	V	568;495;568	ENSP00000306356:I568V;ENSP00000423804:I495V;ENSP00000446289:I568V	ENSP00000306356:I568V	I	-	1	0	ENC1	73966365	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	5.167000	0.64972	1.001000	0.39076	0.459000	0.35465	ATC		0.473	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		41	108	0	0	0	1	0	41	108					C	73930609	T	C	73930609	3	2	9	1	0	0	0	0	1	0	0	0	5131	1464	51	4	71	4	ENC1	5	73930609	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	41700699	73930609	106984651	24	941											
CMYA5	202333	broad.mit.edu	37	chr5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtgatcaaaaacaaaaatCactcctttcatttgatgtag	5	7	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2374					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAAATCACTCCTTTCA	0.368																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7120-7122)tCa>tAa		cardiomyopathy associated 5							36	35	36					5																	79031709		1865	4115	5980	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79031709C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7121C>A	5.37:g.79031709C>A	ENSP00000394770:p.Ser2374*						p.S2374*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7152	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2374					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.7121C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	46	12.721702	0.99691	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.65	-0.142	0.13448	.	2.581580	0.01232	N	0.008365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.8303	0.01129	0.16:0.3584:0.1561:0.3255	.	.	.	.	X	2374	.	ENSP00000394770:S2374X	S	+	2	0	CMYA5	79067465	0.000000	0.05858	0.015000	0.15790	0.868000	0.49771	-0.713000	0.05007	0.051000	0.15978	0.655000	0.94253	TCA		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		39	157	1	0	5.43694e-19	1	5.95251e-19	39	157					A	79031709	C	A	79031709	4	1	9	1	0	0	0	0	0	1	0	0	3599	838	29	3	7127	3	CMYA5	5	79031709	Nonsense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	5101100	79031709	101883551	25	942											
PCDHA7	56141	broad.mit.edu	37	chr5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgcgcctgttccgggCggtgtgcaaattccgtgggg	18	11	0	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	66	Cadherin 1. {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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(196-198)gCg>gTg									84	102	96					5																	140214165		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214165C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.197C>T	5.37:g.140214165C>T	ENSP00000436426:p.Ala66Val					PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A66V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	197	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.197C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.00226	-1.805	0.22511	N	0.999038	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40776	-0.9545	9	0.02654	T	1	.	10.1587	0.42838	0.0:0.1593:0.0:0.8407	.	66;66	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	66	ENSP00000436426:A66V;ENSP00000367365:A66V	ENSP00000367365:A66V	A	+	2	0	PCDHA7	140194349	0.300000	0.24435	0.998000	0.56505	0.148000	0.21650	3.486000	0.53215	0.121000	0.18284	-1.817000	0.00601	GCG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		165	586	0	0	0	1	0	165	586					T	140214165	C	T	140214165	3	4	9	1	0	0	0	0	1	0	0	0	11571	768	27	1	199	1	PCDHA7	5	140214165	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	61182456	140214165	40701095	26	943											
AGER	177	broad.mit.edu	37	chr6	32151673	32151673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccagtttccattccagCcgctggggtggtttcttggg	12	11	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000538695.1_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375055.2_Silent_p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	48	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCATTCCAGCCGCTGGGGTG	0.582																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(142-144)cgG>cgA		advanced glycosylation end product-specific receptor							67	77	73					6																	32151673		1510	2709	4219	SO:0001819	synonymous_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151673C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.144G>A	6.37:g.32151673C>T						AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375070.3_Silent_p.R79R	p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			2	245	-			48			Ig-like V-type.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Silent	SNP	ENST00000375076.4	37	c.144G>A	CCDS4746.1																																																																																				0.582	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		44	236	0	0	0	1	0	44	236					T	32151673	C	T	32151673	2	4	9	1	0	0	0	0	0	0	0	1	379	726	26	2		2	AGER	6	32151673	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		32151673	138963394	27	944											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaagcttggcagagaTtggggaccggctcttatcct	12	10	1	1	rs376402121		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(319-321)Atc>Gtc		phosphoribosyl pyrophosphate synthetase 1-like 1		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	145	148	147		319	4.5	0.5	7		147	0,8600		0,0,4300	no	missense	PRPS1L1	NM_175886.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	107/319	18067087	1,13005	2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067087T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.319A>G	7.37:g.18067087T>C	ENSP00000424595:p.Ile107Val						p.I107V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		107					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.319A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	PRPS1L1	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		94	337	0	0	0	1	0	94	337					C	18067087	T	C	18067087	3	2	9	1	0	0	0	0	1	0	0	0	12626	1493	52	4	641	4	PRPS1L1	7	18067087	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		18067087	141071576	28	945											
POM121C	100101267	broad.mit.edu	37	chr7	75051015	75051015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgccagcgggggctgcCgaacccccaaacgtgaaggg	14	15	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:75051015C>T	ENST00000257665.5	-	11	3245	c.3246G>A	c.(3244-3246)tcG>tcA	p.S1082S	POM121C_ENST00000453279.2_Silent_p.S840S|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1082	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGGGGCTGCCGAACCCCCAA	0.652																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2518-2520)tcG>tcA		POM121 transmembrane nucleoporin C							4	6	5					7																	75051015		1709	3613	5322	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051015C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3246G>A	7.37:g.75051015C>T						POM121C_ENST00000257665.5_Silent_p.S1082S	p.S840S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			13	3384	-			1082			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2520G>A																																																																																					0.652	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		5	132	0	0	0	1	0	5	132					T	75051015	C	T	75051015	2	4	9	1	0	0	0	0	0	0	0	1	12282	639	23	1		1	POM121C	7	75051015	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	56983928	75051015	84087648	29	946											
ABCB1	5243	broad.mit.edu	37	chr7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgctttatttctttgccatCaagcagctgaaaacaagagt	7	9	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1097	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	TCTTTGCCATCAAGCAGCTGA	0.453																																						ENST00000265724.3																			0				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						c.(3289-3291)Gat>Tat		ATP-binding cassette, sub-family B (MDR/TAP), 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)						66	64	64					7																	87138791		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.chr7:87138791C>A	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.3289G>T	7.37:g.87138791C>A	ENSP00000265724:p.Asp1097Tyr					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y	p.D1097Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3706	-	Esophageal squamous(14;0.00164)		1097			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3289G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009182	0.93346	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92199	-2.99;-2.99	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045706	0.85682	D	0.000000	D	0.96614	0.8895	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96715	0.9528	10	0.87932	D	0	-28.0757	19.1758	0.93602	0.0:1.0:0.0:0.0	.	1033;1097	B5AK60;P08183	.;MDR1_HUMAN	Y	878;1097;1033	ENSP00000265724:D1097Y;ENSP00000444095:D1033Y	ENSP00000265724:D1097Y	D	-	1	0	ABCB1	86976727	1.000000	0.71417	0.110000	0.21437	0.346000	0.29079	7.810000	0.86072	2.765000	0.95021	0.655000	0.94253	GAT		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		36	155	1	0	4.65686e-17	1	5.05489e-17	36	155					A	87138791	C	A	87138791	3	1	9	1	0	0	0	0	1	0	0	0	40	826	29	3	565	3	ABCB1	7	87138791	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	12087776	87138791	71999872	30	947											
ARC	23237	broad.mit.edu	37	chr8	143694586	143694586	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcacctccatgcccctctgGatgagctgctccagggtctt	10	15	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCCTCTGGATGAGCTGCT	0.697																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1045-1047)atC>atA		activity-regulated cytoskeleton-associated protein							36	37	37					8																	143694586		2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694586G>T	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1047C>A	8.37:g.143694586G>T							p.I349I	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2247	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	349					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1047C>A	CCDS34950.1																																																																																				0.697	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			60	243	1	0	1.00798e-23	1	1.11316e-23	60	243					T	143694586	G	T	143694586	2	4	9	1	0	0	0	0	0	0	0	1	841	1164	41	3		3	ARC	8	143694586	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		143694586	2669436	31	948											
ARC	23237	broad.mit.edu	37	chr8	143694625	143694625	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggcagggggtggcgcagGaaacgcttgagcttgggctg	20	7	0	1	rs367748647		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694625G>A	ENST00000356613.2	-	1	2208	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCGCAGGAAACGCTTGA	0.682																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1006-1008)ttC>ttT		activity-regulated cytoskeleton-associated protein		G		0,4406		0,0,2203	55	56	56		1008	1.9	1	8		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARC	NM_015193.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		336/397	143694625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694625G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1008C>T	8.37:g.143694625G>A							p.F336F	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2208	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	336					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1008C>T	CCDS34950.1																																																																																				0.682	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			73	344	0	0	0	1	0	73	344					A	143694625	G	A	143694625	2	1	9	1	0	0	0	0	0	0	0	1	841	1165	41	2		2	ARC	8	143694625	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	39	143694625	2669397	32	949											
PLEC	5339	broad.mit.edu	37	chr8	145027910	145027910	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacctttgagggagctgatCtcgttctggatggctcgcga	14	10	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145027910C>T	ENST00000322810.4	-	0	0				PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Silent_p.E10E|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGAGCTGATCTCGTTCTGGA	0.726																																						ENST00000354958.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(28-30)gaG>gaA		plectin							23	29	27					8																	145027910		1972	4133	6105	SO:0001631	upstream_gene_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145027910C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291		8.37:g.145027910C>T	Exception_encountered					PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	p.E10E	NM_201379.1	NP_958781.1	Q15149	PLEC_HUMAN			1	178	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.30G>A	CCDS43772.1																																																																																				0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		28	210	0	0	0	1	0	28	210					T	145027910	C	T	145027910	1	4	9	0	1	0	0	0	0	0	0	0	12094	912	32	2		2	PLEC	8	145027910	5'Flank	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1333285	145027910	1336112	33	950											
ARHGAP39	80728	broad.mit.edu	37	chr8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagcacagcaccatgcGgttgatgcggggcagcgcgt	17	10	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	C8orf82_ENST00000524821.1_5'Flank|C8orf82_ENST00000313465.5_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1008	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGCACCATGCGGTTGATGCGG	0.721																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(3022-3024)Cgc>Tgc		Rho GTPase activating protein 39							33	28	29					8																	145756121		2185	4289	6474	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145756121G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.3022C>T	8.37:g.145756121G>A	ENSP00000276826:p.Arg1008Cys					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C	p.R1008C			Q9C0H5	RHG39_HUMAN			9	3223	-			1008			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.3022C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.379235	0.82682	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.22134	1.97;1.97;1.97	5.19	4.22	0.49857	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.342077	0.28247	N	0.016055	T	0.45657	0.1353	M	0.92970	3.365	0.48341	D	0.999631	D;P	0.61080	0.989;0.872	P;B	0.53722	0.733;0.431	T	0.58956	-0.7544	10	0.87932	D	0	-35.1021	11.8975	0.52663	0.0:0.0:0.7901:0.2099	.	1008;1039	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	1008;1039;1008	ENSP00000276826:R1008C;ENSP00000366522:R1039C;ENSP00000445075:R1008C	ENSP00000276826:R1008C	R	-	1	0	ARHGAP39	145726929	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.311000	0.43717	2.414000	0.81942	0.561000	0.74099	CGC		0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			18	120	0	0	0	1	0	18	120					A	145756121	G	A	145756121	3	1	9	1	0	0	0	0	1	0	0	0	884	1116	39	1	237	1	ARHGAP39	8	145756121	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	728211	145756121	607901	34	951											
CDKN2A	1029	broad.mit.edu	37	chr9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-													gaccccgggccgcggccgtgGccagccagtcagccgaaggc					rs587782206		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		40	100						40	100	---	---	---	---	-	21974780	GCCA	-	21974777	7	5	9	1	0	1	0	1	0	0	0	0	3170	1203	42	0	633	0	CDKN2A	9	21974777	Frame_Shift_Del	DEL	GCCA	TCGA-2J-AABH-01A-21D-A40W-08		21974777	119238654	35	952											
FAM75A6	389730	broad.mit.edu	37	chr9	43627758	43627758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctaccagcttccatctgaCaggtctctggtgggtggcgg	15	11	2	1	rs200771177	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627758C>T	ENST00000332857.6	-	4	957	c.929G>A	c.(928-930)tGt>tAt	p.C310Y	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCCATCTGACAGGTCTCTGG	0.537													C|||	15	0.00299521	0.0	0.0043	5008	,	,		14600	0.002		0.004	False		,,,				2504	0.0061					ENST00000332857.6																			0											c.(928-930)tGt>tAt		SPATA31 subfamily A, member 6							1	1	1					9																	43627758		313	930	1243	SO:0001583	missense	389730							g.chr9:43627758C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.929G>A	9.37:g.43627758C>T	ENSP00000329825:p.Cys310Tyr						p.C310Y	NM_001145196.1	NP_001138668.1					4	957	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.929G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277648	0.00254	.	.	ENSG00000185775	ENST00000332857	T	0.03635	3.86	1.91	0.992	0.19819	.	3.231580	0.01630	N	0.023486	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	P	0.43788	0.817	B	0.26693	0.072	T	0.42155	-0.9468	10	0.02654	T	1	.	4.3835	0.11305	0.0:0.7957:0.0:0.2043	.	310	Q5VVP1	F75A6_HUMAN	Y	310	ENSP00000329825:C310Y	ENSP00000329825:C310Y	C	-	2	0	FAM75A6	43567754	0.001000	0.12720	0.003000	0.11579	0.018000	0.09664	0.183000	0.16919	0.371000	0.24564	0.449000	0.29647	TGT		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	580	0	0	0	1	0	7	580					T	43627758	C	T	43627758	3	4	9	1	0	0	0	0	1	0	0	0	5647	478	17	2	3106	2	FAM75A6	9	43627758	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	21652981	43627758	97585673	36	953											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		7	663	0	0	0	1	0	7	663					T	70871889	C	T	70871889	2	4	9	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	27244131	70871889	70341542	37	954											
ANGPTL2	23452	broad.mit.edu	37	chr9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggtaatggcccccgcgGtaccagaccccgttgaggtt	12	15	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	453	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGCCCCCGCGGTACCAGACCC	0.582																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1357-1359)taC>taA		angiopoietin-like 2							114	116	115					9																	129851341		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129851341G>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1359C>A	9.37:g.129851341G>T	ENSP00000362524:p.Tyr453*					RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	p.Y453*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			5	1976	-			453			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1359C>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.542895	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.3322	0.38030	0.185:0.0:0.815:0.0	.	.	.	.	X	453;151	.	ENSP00000362516:Y151X	Y	-	3	2	ANGPTL2	128891162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.766000	0.38491	1.221000	0.43506	0.655000	0.94253	TAC		0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		117	406	1	0	1.14472e-53	1	1.28654e-53	117	406					T	129851341	G	T	129851341	4	4	9	1	0	0	0	0	0	1	0	0	614	1256	44	3	126	3	ANGPTL2	9	129851341	Nonsense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	58979452	129851341	11362090	38	955											
ZNF79	7633	broad.mit.edu	37	chr9	130207140	130207140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggactcacactggggagaaAccctacaagtgcagcgagtg	13	10	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75	72	73					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		6	279	0	0	0	1	0	6	279					G	130207140	A	G	130207140	2	3	9	1	0	0	0	0	0	0	0	1	18214	40	2	4		4	ZNF79	9	130207140	Silent	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	355799	130207140	11006291	39	956											
OBP2B	29989	broad.mit.edu	37	chr9	136081782	136081782	+	Missense_Mutation	SNP	C	C	A													taaattcttccagggcctccCggttggtatcagaattccta					rs1132281	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081782C>A	ENST00000372034.3	-	5	451	c.410G>T	c.(409-411)cGg>cTg	p.R137L	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	137					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.R137L(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CAGGGCCTCCCGGTTGGTATC	0.607													c|||	3	0.000599042	0.0015	0.0	5008	,	,		15783	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			1	Substitution - Missense(1)	p.R137L(1)	central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(409-411)cGg>cTg		odorant binding protein 2B							93	88	90					9																	136081782		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081782C>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.410G>T	9.37:g.136081782C>A	ENSP00000361104:p.Arg137Leu					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.R137L	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	451	-			137					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.410G>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	c	2.361	-0.346677	0.05208	.	.	ENSG00000171102	ENST00000372034	T	0.08984	3.03	2.38	-4.07	0.03975	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.645570	0.04093	N	0.311619	T	0.01523	0.0049	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42965	-0.9420	10	0.17369	T	0.5	0.165	4.7213	0.12920	0.227:0.1915:0.5815:0.0	rs1132281;rs3178140;rs3192933;rs52820958;rs1132281	137	Q9NPH6	OBP2B_HUMAN	L	137	ENSP00000361104:R137L	ENSP00000361104:R137L	R	-	2	0	OBP2B	135071603	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.968000	0.00669	-0.818000	0.04329	-0.386000	0.06593	CGG		0.607	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		9	329	1	0	9.31168e-06	1	9.69331e-06	9	329					A	136081782	C	A	136081782	3	1	9	1	0	0	0	0	1	0	0	0	10853	652	23	3	110	3	OBP2B	9	136081782	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	5874642	136081782	5131649	40	957	9	3									
OBP2B	29989	broad.mit.edu	37	chr9	136081792	136081792	+	Missense_Mutation	SNP	C	C	T													cagggcctcccggttggtatCagaattcctacctgcaggtg					rs1132280	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081792C>T	ENST00000372034.3	-	5	441	c.400G>A	c.(400-402)Gat>Aat	p.D134N	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	134					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGGTTGGTATCAGAATTCCTA	0.612													C|||	3	0.000599042	0.0015	0.0	5008	,	,		15754	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(400-402)Gat>Aat		odorant binding protein 2B							79	74	76					9																	136081792		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081792C>T	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.400G>A	9.37:g.136081792C>T	ENSP00000361104:p.Asp134Asn					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.D134N	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	441	-			134					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.400G>A	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	C	8.370	0.835022	0.16820	.	.	ENSG00000171102	ENST00000372034	T	0.08458	3.09	2.38	0.442	0.16582	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	3.056560	0.01740	U	0.029337	T	0.09202	0.0227	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.33650	-0.9860	10	0.38643	T	0.18	0.1732	4.4124	0.11439	0.0:0.6455:0.0:0.3545	rs1132280;rs3178138;rs3192932;rs17417810	134	Q9NPH6	OBP2B_HUMAN	N	134	ENSP00000361104:D134N	ENSP00000361104:D134N	D	-	1	0	OBP2B	135071613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.311000	0.19380	0.102000	0.17638	-0.259000	0.10710	GAT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		7	283	0	0	0	1	0	7	283					T	136081792	C	T	136081792	3	4	9	1	0	0	0	0	1	0	0	0	10853	826	29	2	120	2	OBP2B	9	136081792	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	10	136081792	5131639	41	958	9	3									
OBP2B	29989	broad.mit.edu	37	chr9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G													ggcctcccggttggtatcagAattcctacctgcaggtgagg					rs1132279	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79	74	76					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		8	277	0	0	0	1	0	8	277					G	136081795	A	G	136081795	3	3	9	1	0	0	0	0	1	0	0	0	10853	246	9	4	123	4	OBP2B	9	136081795	Missense_Mutation	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	3	136081795	5131636	42	959	9	3									
CARD9	64170	broad.mit.edu	37	chr9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggaccttgcactgccGcaggtaaggtgtgatgcgtg	15	9	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(103-105)Cgg>Tgg		caspase recruitment domain family, member 9							156	126	136					9																	139266428		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266428G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp					CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	268	-		Myeloproliferative disorder(178;0.0511)	35			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.103C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		6	566	0	0	0	1	0	6	566					A	139266428	G	A	139266428	3	1	9	1	0	0	0	0	1	0	0	0	2659	1086	38	1	1608	1	CARD9	9	139266428	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	3184633	139266428	1947003	43	960											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	247						7	247	---	---	---	---	-	46969403	CAG	-	46969401	7	5	9	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-2J-AABH-01A-21D-A40W-08		46969401	88565346	44	961											
ANK3	288	broad.mit.edu	37	chr10	61844558	61844558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctaaccccacagtttcTaaaacttgatggcagtctgc	9	11	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.2	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000355288.2_Silent_p.L426L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1292	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTTTCTAAAACTTGAT	0.363																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3874-3876)ttA>ttG		ankyrin 3, node of Ranvier (ankyrin G)							60	55	57					10																	61844558		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844558T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3876A>G	10.37:g.61844558T>C						ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L	p.L1292L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			32	4067	-			1292					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3876A>G	CCDS7258.1																																																																																				0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		66	202	0	0	0	1	0	66	202					C	61844558	T	C	61844558	2	2	9	1	0	0	0	0	0	0	0	1	622	1519	53	4		4	ANK3	10	61844558	Silent	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	14875157	61844558	73690189	45	962											
CCAR1	55749	broad.mit.edu	37	chr10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatacaagcagcagctgGtcgagaagcttcagggtgaa	15	7	1	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	598					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCAGCAGCTGGTCGAGAAGCT	0.522																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1792-1794)Gtc>Atc		cell division cycle and apoptosis regulator 1							96	92	94					10																	70516196		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70516196G>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1792G>A	10.37:g.70516196G>A	ENSP00000265872:p.Val598Ile					CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I	p.V598I	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			14	1911	+			598					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1792G>A	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035173	0.35893	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.42513	1.64;0.97;0.97;0.97;0.97;0.97	5.3	5.3	0.74995	.	0.264375	0.37669	N	0.001989	T	0.26521	0.0648	N	0.04508	-0.205	0.44073	D	0.996823	B;B;B	0.21606	0.058;0.021;0.011	B;B;B	0.22152	0.015;0.038;0.017	T	0.07404	-1.0774	10	0.38643	T	0.18	-0.3118	18.9513	0.92642	0.0:0.0:1.0:0.0	.	583;598;572	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	598;583;583;583;572;403	ENSP00000265872:V598I;ENSP00000441820:V583I;ENSP00000445254:V583I;ENSP00000439252:V583I;ENSP00000438610:V572I;ENSP00000439642:V403I	ENSP00000265872:V598I	V	+	1	0	CCAR1	70186202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.488000	0.83962	0.585000	0.79938	GTC		0.522	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		21	64	0	0	0	1	0	21	64					A	70516196	G	A	70516196	3	1	9	1	0	0	0	0	1	0	0	0	2737	1261	44	2	1842	2	CCAR1	10	70516196	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	8671638	70516196	65018551	46	963											
B3GAT3	26229	broad.mit.edu	37	chr11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtagaggaggccggcgaTcgacaccaggaagtaggcga	17	10	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000265471.5	-	1	276	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	17					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGCCGGCGATCGACACCAGG	0.746																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(49-51)Atc>Ttc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							45	41	42					11																	62389371		2202	4296	6498	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389371T>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.49A>T	11.37:g.62389371T>A	ENSP00000265471:p.Ile17Phe					B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	p.I17F			O94766	B3GA3_HUMAN			1	255	-			17					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.49A>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077236	0.76415	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64803	-0.09;-0.11;-0.12;0.83	4.99	2.62	0.31277	.	1.133970	0.06543	N	0.743641	T	0.39708	0.1088	N	0.08118	0	0.37300	D	0.908636	B;B	0.20671	0.047;0.028	B;B	0.22601	0.04;0.007	T	0.41324	-0.9515	10	0.25751	T	0.34	.	4.5387	0.12047	0.0:0.1041:0.2165:0.6794	.	17;17	B7ZAB3;O94766	.;B3GA3_HUMAN	F	17	ENSP00000265471:I17F;ENSP00000431359:I17F;ENSP00000432474:I17F;ENSP00000432854:I17F	ENSP00000265471:I17F	I	-	1	0	B3GAT3	62145947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.014000	0.40951	0.941000	0.37499	0.459000	0.35465	ATC		0.746	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		35	113	0	0	0	1	0	35	113					A	62389371	T	A	62389371	3	1	9	1	0	0	0	0	1	0	0	0	1256	1435	50	5	978	5	B3GAT3	11	62389371	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		62389371	72617145	47	964											
POLR2G	5436	broad.mit.edu	37	chr11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctggtttcgcagggcTtgtaagctgagcctggtggc	14	8	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	170					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						TTCGCAGGGCTTGTAAGCTGA	0.488																																						ENST00000301788.7																			0				lung(3)	3						c.(508-510)cTt>cCt		polymerase (RNA) II (DNA directed) polypeptide G							188	158	168					11																	62533969		2201	4299	6500	SO:0001583	missense	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62533969T>C	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"RNA polymerase subunits"	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.509T>C	11.37:g.62533969T>C	ENSP00000301788:p.Leu170Pro						p.L170P	NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN			8	614	+			170					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.509T>C	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933223	0.52866	.	.	ENSG00000168002	ENST00000301788	T	0.60672	0.17	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.322319	0.28241	N	0.016070	T	0.51041	0.1651	L	0.42487	1.325	0.80722	D	1	P	0.52316	0.952	B	0.43623	0.425	T	0.49447	-0.8939	10	0.30078	T	0.28	-22.2904	12.7857	0.57504	0.0:0.0:0.0:1.0	.	170	P62487	RPB7_HUMAN	P	170	ENSP00000301788:L170P	ENSP00000301788:L170P	L	+	2	0	POLR2G	62290545	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.560000	0.53763	2.276000	0.75962	0.455000	0.32223	CTT		0.488	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		53	154	0	0	0	1	0	53	154					C	62533969	T	C	62533969	3	2	9	1	0	0	0	0	1	0	0	0	12262	1609	56	4	539	4	POLR2G	11	62533969	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	144598	62533969	72472547	48	965											
SLCO2B1	11309	broad.mit.edu	37	chr11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcgccttagttttggCtgtcctgaggcagcaggaca	12	11	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	671					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTAGTTTTGGCTGTCCTGAGG	0.542																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2011-2013)gCt>gTt		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						128	111	117					11																	74915507		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74915507C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2012C>T	11.37:g.74915507C>T	ENSP00000289575:p.Ala671Val					SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V	p.A671V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			14	2407	+			671					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.2012C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523235	0.04141	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.80304	0.35;-1.36;-1.36;-1.36;-1.36;0.35	5.6	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);	0.587955	0.17573	N	0.169406	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.15052	0.008;0.012;0.006	T	0.46386	-0.9195	10	0.27082	T	0.32	.	6.9803	0.24700	0.0:0.5805:0.0:0.4195	.	527;444;671	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	V	671;444;555;527;444;649	ENSP00000289575:A671V;ENSP00000341286:A444V;ENSP00000434112:A555V;ENSP00000436324:A527V;ENSP00000389653:A444V;ENSP00000388912:A649V	ENSP00000289575:A671V	A	+	2	0	SLCO2B1	74593155	0.046000	0.20272	0.272000	0.24630	0.055000	0.15305	-0.057000	0.11768	0.558000	0.29135	-0.253000	0.11424	GCT		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		5	354	0	0	0	1	0	5	354					T	74915507	C	T	74915507	3	4	9	1	0	0	0	0	1	0	0	0	14777	797	28	2	2066	2	SLCO2B1	11	74915507	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	12381538	74915507	60091009	49	966											
PRSS23	11098	broad.mit.edu	37	chr11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcccttacagtgcccCctggaaacccacttggcctg	10	15	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	27						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGTGCCCCCTGGAAACCC	0.547																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(79-81)cCc>cTc		protease, serine, 23							121	121	121					11																	86518765		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518765C>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.80C>T	11.37:g.86518765C>T	ENSP00000280258:p.Pro27Leu					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	505	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	27					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.80C>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566037	0.13560	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.7	0.42460	.	0.620354	0.16980	N	0.191723	T	0.37544	0.1007	N	0.19112	0.55	0.43296	D	0.995288	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08249	-1.0731	8	.	.	.	-4.3818	7.5087	0.27560	0.658:0.2362:0.0:0.1058	.	27;27	B4E2J3;O95084	.;PRS23_HUMAN	L	27	.	.	P	+	2	0	PRSS23	86196413	0.106000	0.21978	0.692000	0.30179	0.844000	0.47949	0.285000	0.18883	0.647000	0.30713	0.655000	0.94253	CCC		0.547	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		100	348	0	0	0	1	0	100	348					T	86518765	C	T	86518765	3	4	9	1	0	0	0	0	1	0	0	0	12667	623	22	2	82	2	PRSS23	11	86518765	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	11603258	86518765	48487751	50	967											
ANKRD49	54851	broad.mit.edu	37	chr11	94230058	94230059	+	Frame_Shift_Ins	INS	-	-	A													agagtggtatcgattgcaagINSaaaaaaaaatggaaaaagac							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:94230058_94230059insA	ENST00000544612.1	+	2	696_697	c.199_200insA	c.(199-201)gaafs	p.E67fs	ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000544253.1_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.E67fs|MRE11A_ENST00000323929.3_5'Flank	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	67					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGATTGCAAGAAAAAAAAATG	0.381																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(199-201)aaafs		ankyrin repeat domain 49				38,4226		0,38,2094						5.6	1			79	34,8214		0,34,4090	no	frameshift	ANKRD49	NM_017704.2		0,72,6184	A1A1,A1R,RR		0.4122,0.8912,0.5754				72,12440				SO:0001589	frameshift_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230058_94230059insA	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.208dupA	11.37:g.94230067_94230067dupA	ENSP00000440396:p.Glu67fs					ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs	p.K67fs			Q8WVL7	ANR49_HUMAN			2	317_318	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	67					Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Ins	INS	ENST00000544612.1	37	c.199_200insA	CCDS8300.1																																																																																				0.381	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		7	412						7	412	---	---	---	---	A	94230059	-	A	94230058	7	5	9	1	0	1	1	0	0	0	0	0	675	943	33	0	201	0	ANKRD49	11	94230058	Frame_Shift_Ins	INS	-	TCGA-2J-AABH-01A-21D-A40W-08	7711293	94230058	40776458	51	968											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			7	152						7	152	---	---	---	---	-	119535680	CCT	-	119535678	7	5	9	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-2J-AABH-01A-21D-A40W-08	25305620	119535678	15470838	52	969											
C1S	716	broad.mit.edu	37	chr12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagtactgggtgctgacgGctgctcatgttgtggaggga	17	6	1	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S			P09871	C1S_HUMAN	complement component 1, s subcomponent	473	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1417-1419)Gct>Tct		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						50	47	48					12																	7177305		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177305G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1417G>T	12.37:g.7177305G>T	ENSP00000385035:p.Ala473Ser					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S	p.A473S			P09871	C1S_HUMAN			15	2045	+			473			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1417G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333322	0.81801	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.03	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	D	0.96592	0.8888	M	0.73372	2.23	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96958	0.9699	10	0.87932	D	0	.	13.8363	0.63410	0.0739:0.0:0.9261:0.0	.	473	P09871	C1S_HUMAN	S	473;473;473;467;306	ENSP00000385035:A473S;ENSP00000328173:A473S;ENSP00000354057:A473S;ENSP00000384171:A306S	ENSP00000328173:A473S	A	+	1	0	C1S	7047566	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	7.016000	0.76393	1.341000	0.45600	0.462000	0.41574	GCT		0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		45	172	1	0	5.48756e-27	1	6.11334e-27	45	172					T	7177305	G	T	7177305	3	4	9	1	0	0	0	0	1	0	0	0	1981	1203	42	3	1459	3	C1S	12	7177305	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		7177305	126674590	53	970											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	109	1	0	1.39806e-14	1	1.50469e-14	26	109					A	25398284	C	A	25398284	3	1	9	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	18220979	25398284	108453611	54	971	10	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Agt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S	p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	108	0	0	0	1	0	26	108					T	25398285	C	T	25398285	3	4	9	1	0	0	0	0	1	0	0	0	8468	594	21	2	672	2	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1	25398285	108453610	55	972	10	2									
TRPV4	59341	broad.mit.edu	37	chr12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccagcccaggaccaggGcaaagaccatcacggccagg	11	15	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	581					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGACCAGGGCAAAGACCAT	0.587																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1741-1743)gCc>gTc		transient receptor potential cation channel, subfamily V, member 4							85	67	73					12																	110230539		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230539G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1742C>T	12.37:g.110230539G>A	ENSP00000406191:p.Ala581Val					TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V	p.A581V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1836	-			581					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1742C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561025	0.96527	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86420	2.815	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.99;0.938	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.922;0.851	D	0.95065	0.8199	10	0.54805	T	0.06	1.4817	19.1263	0.93386	0.0:0.0:1.0:0.0	.	521;581;474;534;547	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	581;581;534;521;474;521;534;547	ENSP00000406191:A581V;ENSP00000261740:A581V;ENSP00000376480:A534V;ENSP00000319003:A521V;ENSP00000443611:A474V;ENSP00000442738:A521V;ENSP00000442167:A534V;ENSP00000444336:A547V	ENSP00000261740:A581V	A	-	2	0	TRPV4	108714922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.650000	0.86243	GCC		0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		4	102	0	0	0	1	0	4	102					A	110230539	G	A	110230539	3	1	9	1	0	0	0	0	1	0	0	0	16651	1203	42	2	897	2	TRPV4	12	110230539	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	84832254	110230539	23621356	56	973											
NAA25	80018	broad.mit.edu	37	chr12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatccttatgtttctTcaacagtttatctgcttgct	6	8	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	39						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTATGTTTCTTCAACAGTTTA	0.313																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(115-117)Aag>Gag		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							138	122	128					12																	112530884		2202	4300	6502	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112530884T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.115A>G	12.37:g.112530884T>C	ENSP00000261745:p.Lys39Glu						p.K39E	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			2	363	-			39					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.115A>G	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	32	5.154751	0.94686	.	.	ENSG00000111300	ENST00000261745	T	0.36340	1.26	5.15	5.15	0.70609	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79805	2.47	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.58266	0.836;0.836	T	0.65265	-0.6210	10	0.72032	D	0.01	-16.1726	15.2728	0.73717	0.0:0.0:0.0:1.0	.	39;39	A8K8X0;Q14CX7	.;NAA25_HUMAN	E	39	ENSP00000261745:K39E	ENSP00000261745:K39E	K	-	1	0	NAA25	111015267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.061000	0.61500	0.482000	0.46254	AAG		0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		9	255	0	0	0	1	0	9	255					C	112530884	T	C	112530884	3	2	9	1	0	0	0	0	1	0	0	0	10162	1792	62	4	2895	4	NAA25	12	112530884	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	2300345	112530884	21321011	57	974											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123682836	123682836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttattttcaagtgttctCacgcgactagtagcttcatg	7	9	4	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	661						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)		CAAGTGTTCTCACGCGACTAG	0.323																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1981-1983)gtG>gtA		M-phase phosphoprotein 9							60	57	58					12																	123682836		2203	4298	6501	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123682836C>T	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.1983G>A	12.37:g.123682836C>T						MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V	p.V661V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	12	2189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		509					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1983G>A																																																																																					0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			19	62	0	0	0	1	0	19	62					T	123682836	C	T	123682836	2	4	9	1	0	0	0	0	0	0	0	1	9769	813	29	2		2	MPHOSPH9	12	123682836	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	11151952	123682836	10169059	58	975											
ZMYM5	9205	broad.mit.edu	37	chr13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagcaaaatctcttctgctGacctccaatcaccaggatgt	7	13	3	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	402						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCTTCTGCTGACCTCCAATC	0.378																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1204-1206)Cag>Tag		zinc finger, MYM-type 5							89	76	80					13																	20409664		1568	3582	5150	SO:0001587	stop_gained	9205					nucleus	zinc ion binding	g.chr13:20409664G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1204C>T	13.37:g.20409664G>A	ENSP00000337034:p.Gln402*						p.Q402*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1468	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	402					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Nonsense_Mutation	SNP	ENST00000337963.4	37	c.1204C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.428971	0.97559	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	.	.	.	4.88	4.03	0.46877	.	0.056814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.5531	14.9049	0.70711	0.0:0.2714:0.7286:0.0	.	.	.	.	X	402;392	.	ENSP00000337034:Q402X	Q	-	1	0	ZMYM5	19307664	1.000000	0.71417	0.890000	0.34922	0.578000	0.36192	7.270000	0.78493	1.405000	0.46838	-0.314000	0.08810	CAG		0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		5	225	0	0	0	1	0	5	225					A	20409664	G	A	20409664	4	1	9	1	0	0	0	0	0	1	0	0	17756	1299	45	2	813	2	ZMYM5	13	20409664	Nonsense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		20409664	94760214	59	976											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	346						8	346	---	---	---	---	-	88329796	CGG	-	88329794	7	5	9	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-2J-AABH-01A-21D-A40W-08	67920130	88329794	26840084	60	977											
OR4E2	26686	broad.mit.edu	37	chr14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacactcagctgaagggCgccagaaagccctgtctacc	10	13	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGCTGAAGGGCGCCAGAAAGC	0.527																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(697-699)Cgc>Tgc		olfactory receptor, family 4, subfamily E, member 2							111	104	106					14																	22133993		1962	4149	6111	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133993C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.697C>T	14.37:g.22133993C>T	ENSP00000386195:p.Arg233Cys						p.R233C	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	697	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	233					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.697C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718980	0.48622	.	.	ENSG00000221977	ENST00000408935	T	0.00337	8.05	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001514	T	0.01124	0.0037	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.50499	-0.8821	10	0.87932	D	0	.	12.3913	0.55360	0.1682:0.8318:0.0:0.0	.	233	Q8NGC2	OR4E2_HUMAN	C	233	ENSP00000386195:R233C	ENSP00000386195:R233C	R	+	1	0	OR4E2	21203833	0.001000	0.12720	0.993000	0.49108	0.371000	0.29859	0.040000	0.13905	2.782000	0.95742	0.591000	0.81541	CGC		0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			44	155	0	0	0	1	0	44	155					T	22133993	C	T	22133993	3	4	9	1	0	0	0	0	1	0	0	0	11102	768	27	1	699	1	OR4E2	14	22133993	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		22133993	85215547	61	978											
MYH7	4625	broad.mit.edu	37	chr14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcgcttcttggcagTgagctcagcattcatctcct	9	13	4	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	937					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGGCAGTGAGCTCAGCA	0.522																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2809-2811)Act>Gct		myosin, heavy chain 7, cardiac muscle, beta							242	202	215					14																	23893229		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893229T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2809A>G	14.37:g.23893229T>C	ENSP00000347507:p.Thr937Ala						p.T937A	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2971	-	all_cancers(95;2.54e-05)		937					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2809A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247429	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	5.33	5.33	0.75918	.	.	.	.	.	D	0.90003	0.6879	M	0.85777	2.775	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	D	0.87423	0.2383	9	0.44086	T	0.13	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	937	P12883	MYH7_HUMAN	A	937	ENSP00000347507:T937A	ENSP00000347507:T937A	T	-	1	0	MYH7	22963069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.241000	0.73720	0.533000	0.62120	ACT		0.522	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		99	357	0	0	0	1	0	99	357					C	23893229	T	C	23893229	3	2	9	1	0	0	0	0	1	0	0	0	10080	1696	59	4	3070	4	MYH7	14	23893229	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	1759236	23893229	83456311	62	979											
SYT16	83851	broad.mit.edu	37	chr14	62547800	62547800	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagggcccaaccccgtcttCagggagaaggtcacctttgc	12	13	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	414	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACCCCGTCTTCAGGGAGAAGG	0.582																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1240-1242)ttC>ttT		synaptotagmin XVI							38	43	41					14																	62547800		2155	4270	6425	SO:0001819	synonymous_variant	83851							g.chr14:62547800C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1242C>T	14.37:g.62547800C>T						RP11-355I22.5_ENST00000553990.1_lincRNA	p.F414F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1439	+			414			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1242C>T	CCDS45121.1																																																																																				0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		19	79	0	0	0	1	0	19	79					T	62547800	C	T	62547800	2	4	9	1	0	0	0	0	0	0	0	1	15524	825	29	2		2	SYT16	14	62547800	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	38654571	62547800	44801740	63	980											
ZWILCH	55055	broad.mit.edu	37	chr15	66832448	66832448	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccttagtgagaagccacaGaaatggagagtggaaatata	11	5	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000535141.2_Silent_p.Q415Q|ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	529					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGAAGCCACAGAAATGGAGAG	0.373																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(1585-1587)caG>caA		zwilch kinetochore protein							82	83	83					15																	66832448		2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66832448G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1587G>A	15.37:g.66832448G>A						ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	p.Q529Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			17	1967	+			529					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.1587G>A	CCDS10219.1																																																																																				0.373	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		60	112	0	0	0	1	0	60	112					A	66832448	G	A	66832448	2	1	9	1	0	0	0	0	0	0	0	1	18301	933	33	2		2	ZWILCH	15	66832448	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		66832448	35698944	64	981											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgaacccaaagaagaGgcggaggatgtaagcagcta	14	9	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	500					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAAAGAAGAGGCGGAGGATG	0.602																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1498-1500)gaG>gaT		mitogen-activated protein kinase 8 interacting protein 3							89	96	94					16																	1811270		1991	4146	6137	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1811270G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1500G>T	16.37:g.1811270G>T	ENSP00000250894:p.Glu500Asp					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	p.E500D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			13	1657	+			500					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1500G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156321	0.09236	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	4.75	3.72	0.42706	.	0.055147	0.64402	D	0.000001	T	0.09598	0.0236	L	0.29908	0.895	0.54753	D	0.999985	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.11665	-1.0578	10	0.07990	T	0.79	-42.6426	7.1817	0.25776	0.0877:0.0:0.7414:0.1709	.	501;494;500	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	D	500;494	ENSP00000250894:E500D;ENSP00000348290:E494D	ENSP00000250894:E500D	E	+	3	2	MAPK8IP3	1751271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.131000	0.50515	2.195000	0.70347	0.609000	0.83330	GAG		0.602	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		104	330	1	0	1.98007e-57	1	2.24526e-57	104	330					T	1811270	G	T	1811270	3	4	9	1	0	0	0	0	1	0	0	0	9327	991	35	3	1566	3	MAPK8IP3	16	1811270	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		1811270	88543483	65	982											
PRRT2	112476	broad.mit.edu	37	chr16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccagcctacccccaagCcagcccttcaaccagagctc	5	20	1	1	rs571941412	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000358758.7	+	2	743	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	154	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCCCAAGCCAGCCCTTCA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0031					ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(460-462)Cca>Tca		proline-rich transmembrane protein 2							29	33	32					16																	29824835		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824835C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.460C>T	16.37:g.29824835C>T	ENSP00000351608:p.Pro154Ser					PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron	p.P154S			Q7Z6L0	PRRT2_HUMAN			2	634	+			154			Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.460C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	6.452	0.451562	0.12223	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70516	-0.49;0.42	4.04	1.99	0.26369	.	0.279462	0.27696	N	0.018240	T	0.47060	0.1425	N	0.14661	0.345	0.21822	N	0.999527	B;B;B	0.24721	0.087;0.03;0.11	B;B;B	0.24006	0.02;0.009;0.05	T	0.32268	-0.9913	10	0.45353	T	0.12	-1.2862	3.9443	0.09341	0.0:0.5684:0.1969:0.2346	.	154;154;154	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	S	154	ENSP00000351608:P154S;ENSP00000300797:P154S	ENSP00000300797:P154S	P	+	1	0	PRRT2	29732336	0.006000	0.16342	0.199000	0.23439	0.760000	0.43138	2.130000	0.42064	0.443000	0.26582	0.563000	0.77884	CCA		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		32	99	0	0	0	1	0	32	99					T	29824835	C	T	29824835	3	4	9	1	0	0	0	0	1	0	0	0	12657	739	26	2	462	2	PRRT2	16	29824835	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	28013565	29824835	60529918	66	983											
TAOK2	9344	broad.mit.edu	37	chr16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggcagctttggagccGtatactttgtgagttgggtc	14	8	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29989217G>A	ENST00000308893.4	+	2	1167	c.124G>A	c.(124-126)Gta>Ata	p.V42I	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I|TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	42	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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGGAGCCGTATACTTTGT	0.532																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(124-126)Gta>Ata		TAO kinase 2							80	87	84					16																	29989217		2197	4300	6497	SO:0001583	missense	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.chr16:29989217G>A	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.124G>A	16.37:g.29989217G>A	ENSP00000310094:p.Val42Ile					TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I	p.V42I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1167	+			42			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.124G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153353	0.78114	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.59906	0.23;0.23;0.23	5.35	5.35	0.76521	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	0.80019	0.4547	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.62365	0.991;0.966;0.972;0.986	P;P;P;P	0.59889	0.865;0.527;0.523;0.742	D	0.84765	0.0764	9	.	.	.	.	18.1978	0.89829	0.0:0.0:1.0:0.0	.	226;42;42;42	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	I	42	ENSP00000310094:V42I;ENSP00000440336:V42I;ENSP00000279394:V42I	.	V	+	1	0	TAOK2	29896718	1.000000	0.71417	0.996000	0.52242	0.565000	0.35776	9.349000	0.97066	2.668000	0.90789	0.655000	0.94253	GTA		0.532	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	471	0	0	0	1	0	5	471					A	29989217	G	A	29989217	3	1	9	1	0	0	0	0	1	0	0	0	15600	1145	40	1	126	1	TAOK2	16	29989217	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	164382	29989217	60365536	67	984											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	276						9	276	---	---	---	---	-	67913769	CAG	-	67913767	7	5	9	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-2J-AABH-01A-21D-A40W-08	37924550	67913767	22440986	68	985											
TP53	7157	broad.mit.edu	37	chr17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-													ctctggcattctgggagcttCatctggacctgggtcttcag							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000269305.4	-	4	373	c.184delG	c.(184-186)gaafs	p.E62fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs	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	62	Interaction with HRMT1L2.		E -> D (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)	CTGGGAGCTTCATCTGGACCT	0.617		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)	ENST00000420246.2		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"		28	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|liver(2)|urinary_tract(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|pancreas(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						c.(184-186)aafs	Other conserved DNA damage response genes	tumor protein p53							138	142	140					17																	7579503		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579503delC	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.184delG	17.37:g.7579503delC	ENSP00000269305:p.Glu62fs	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_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs	p.E62fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	316	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	62		E -> D (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.184delG	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		259	603						259	603	---	---	---	---	-	7579503	C	-	7579503	7	5	9	1	0	1	0	1	0	0	0	0	16434	835	29	0	1118	0	TP53	17	7579503	Frame_Shift_Del	DEL	C	TCGA-2J-AABH-01A-21D-A40W-08		7579503	73615707	69	986											
PPP1R1B	84152	broad.mit.edu	37	chr17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-													tccttagatccggcgcaggaGaccaacgcctgccatgctgt					rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agaccaacgcctgccatgfs	p.RPTPAM32fs	PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	32					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648																																						ENST00000254079.4																			1	Substitution - Missense(1)	p.P33A(1)	kidney(1)	kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(94-111)agfs		protein phosphatase 1, regulatory (inhibitor) subunit 1B																																				SO:0001589	frameshift_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.95_110delGACCAACGCCTGCCAT	17.37:g.37785436_37785451delGACCAACGCCTGCCAT	ENSP00000254079:p.Arg32fs					PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs	p.RPTPAM32fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	564_579	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		32					Q547V9|Q547W0|Q9H7G1	Frame_Shift_Del	DEL	ENST00000254079.4	37	c.95_110delGACCAACGCCTGCCAT	CCDS11339.1																																																																																				0.648	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		20	215						20	215	---	---	---	---	-	37785451	GACCAACGCCTGCCAT	-	37785436	7	5	9	1	0	1	0	1	0	0	0	0	12415	942	33	0	101	0	PPP1R1B	17	37785436	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	TCGA-2J-AABH-01A-21D-A40W-08	30205933	37785436	43409774	70	987											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaccaccccacaagtgttTgtctgcctggttgcctaaac	8	14	1	0	rs540460002		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	112	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)		p.P114fs*3(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACAAGTGTTTGTCTGCCTGG	0.602																																						ENST00000411528.2																			1	Deletion - Frameshift(1)	p.P114fs*3(1)	breast(1)	breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(334-336)Tgt>Ggt		keratin associated protein 9-3							134	151	145					17																	39389087		2103	4300	6403	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39389087T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.334T>G	17.37:g.39389087T>G	ENSP00000392189:p.Cys112Gly						p.C112G	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	373	+		Breast(137;0.000496)	112			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.334T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	9.806	1.181974	0.21787	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	2.42	-0.28	0.12886	.	.	.	.	.	T	0.04182	0.0116	M	0.86805	2.84	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	7	0.16420	T	0.52	.	3.9176	0.09230	0.0:0.1391:0.2145:0.6464	.	.	.	.	G	112	ENSP00000392189:C112G	ENSP00000392189:C112G	C	+	1	0	KRTAP9-3	36642613	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	-0.267000	0.08619	-0.256000	0.09473	0.329000	0.21502	TGT		0.602	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			89	276	0	0	0	1	0	89	276					G	39389087	T	G	39389087	3	3	9	1	0	0	0	0	1	0	0	0	8605	1812	63	4	336	4	KRTAP9-3	17	39389087	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	1603651	39389087	41806123	71	988											
HDAC5	10014	broad.mit.edu	37	chr17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctagggcactcacatggCtgtggattcctcggcgtggt	13	10	2	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000393622.2	-	19	2846	c.2515G>T	c.(2515-2517)Gcc>Tcc	p.A839S	HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	839	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|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 C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACTCACATGGCTGTGGATTCC	0.602																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2518-2520)Gcc>Tcc		histone deacetylase 5							85	61	69					17																	42160137		2200	4299	6499	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	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.chr17:42160137C>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2515G>T	17.37:g.42160137C>A	ENSP00000377244:p.Ala839Ser					HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S	p.A840S			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	19	2841	-		Breast(137;0.00637)|Prostate(33;0.0313)	839			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2518G>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949580	0.92660	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.72282	-0.64;-0.64;-0.64	5.4	4.44	0.53790	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.83478	0.5263	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.62365	0.99;0.99;0.981;0.991	D;D;D;D	0.81914	0.995;0.988;0.971;0.991	D	0.85438	0.1153	10	0.72032	D	0.01	.	12.7136	0.57103	0.0:0.9198:0.0:0.0802	.	754;839;840;839	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	840;839;754	ENSP00000225983:A840S;ENSP00000377244:A839S;ENSP00000337290:A754S	ENSP00000225983:A840S	A	-	1	0	HDAC5	39515663	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	4.016000	0.57159	1.295000	0.44724	0.655000	0.94253	GCC		0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	25	1	0	1	1	1	3	25					A	42160137	C	A	42160137	3	1	9	1	0	0	0	0	1	0	0	0	7040	797	28	3	889	3	HDAC5	17	42160137	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	2771050	42160137	39035073	72	989											
TXNDC2	84203	broad.mit.edu	37	chr18	9886941	9886941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccaagtcctcagcaaaAcccatccagcccaagctggg	7	17	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000357775.5_Silent_p.K88K|TXNDC2_ENST00000536353.2_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(463-465)aaA>aaG		thioredoxin domain containing 2 (spermatozoa)							131	137	135					18																	9886941		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886941A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.465A>G	18.37:g.9886941A>G						TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.4_Silent_p.K88K	p.K155K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	664	+			155			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.465A>G	CCDS42414.1																																																																																				0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	622	0	0	0	1	0	6	622					G	9886941	A	G	9886941	2	3	9	1	0	0	0	0	0	0	0	1	16851	40	2	4		4	TXNDC2	18	9886941	Silent	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08		9886941	68190307	73	990											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	271						7	271	---	---	---	---	-	12986929	TCC	-	12986927	6	5	9	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-2J-AABH-01A-21D-A40W-08	3099986	12986927	65090321	74	991											
GRIN3B	116444	broad.mit.edu	37	chr19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagcccctacggcctcaCgccacgtggccgcaaccgca	11	19	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	604					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACGGCCTCACGCCACGTGGC	0.662																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1810-1812)aCg>aTg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						90	79	83					19																	1005311		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005311C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1811C>T	19.37:g.1005311C>T	ENSP00000234389:p.Thr604Met						p.T604M	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	3	1830	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	604					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1811C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988790	0.53934	.	.	ENSG00000116032	ENST00000234389	T	0.54479	0.57	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.79475	2.455	0.47308	D	0.999383	D	0.89917	1.0	D	0.97110	1.0	T	0.77965	-0.2389	10	0.87932	D	0	.	15.515	0.75815	0.0:1.0:0.0:0.0	.	604	O60391	NMD3B_HUMAN	M	604	ENSP00000234389:T604M	ENSP00000234389:T604M	T	+	2	0	GRIN3B	956311	1.000000	0.71417	0.993000	0.49108	0.178000	0.23041	7.671000	0.83941	2.012000	0.59069	0.306000	0.20318	ACG		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			60	200	0	0	0	1	0	60	200					T	1005311	C	T	1005311	3	4	9	1	0	0	0	0	1	0	0	0	6814	536	19	1	1821	1	GRIN3B	19	1005311	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		1005311	58123672	75	992											
C19orf26	255057	broad.mit.edu	37	chr19	1236016	1236016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcgtccagtggcattGtcccacgacgtcgtcagggc	16	12	1	0	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000382477.2	-	2	340	c.66C>T	c.(64-66)gaC>gaT	p.D22D	AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.D28D|C19orf26_ENST00000215376.6_Silent_p.D22D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	22	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		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)|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)		CAGTGGCATTGTCCCACGACG	0.687										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(82-84)gaC>gaT		chromosome 19 open reading frame 26		G		0,4402		0,0,2201	53	41	45		66	4.2	1	19	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C19orf26	NM_152769.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		22/448	1236016	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1236016G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.66C>T	19.37:g.1236016G>A		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D	p.D28D			Q8N350	DOS_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	376	-		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)|Hepatocellular(1079;0.137)	22			Thr-rich.		O43385	Silent	SNP	ENST00000382477.2	37	c.84C>T																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		40	112	0	0	0	1	0	40	112					A	1236016	G	A	1236016	2	1	9	1	0	0	0	0	0	0	0	1	1923	1368	48	2		2	C19orf26	19	1236016	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	230705	1236016	57892967	76	993											
ZNF93	81931	broad.mit.edu	37	chr19	20045193	20045193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacataagaaaattcatactGgagagaaaccctacaaatgt	6	7	1	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:20045193G>A	ENST00000343769.5	+	4	1457	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AATTCATACTGGAGAGAAACC	0.373																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1429-1431)Gga>Aga		zinc finger protein 93							47	51	49					19																	20045193		2184	4264	6448	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045193G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1429G>A	19.37:g.20045193G>A	ENSP00000342002:p.Gly477Arg					AC007204.2_ENST00000592245.1_lincRNA	p.G477R	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1457	+			477					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1429G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.794169	0.31777	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01629	4.72	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	L	0.43701	1.375	0.25318	N	0.98914	D	0.56746	0.977	D	0.65684	0.937	T	0.39396	-0.9616	9	0.59425	D	0.04	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	477	P35789	ZNF93_HUMAN	R	477;449	ENSP00000342002:G477R	ENSP00000342002:G477R	G	+	1	0	ZNF93	19906193	0.024000	0.19004	0.075000	0.20258	0.075000	0.17131	1.551000	0.36233	0.192000	0.20272	0.195000	0.17529	GGA		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		6	479	0	0	0	1	0	6	479					A	20045193	G	A	20045193	3	1	9	1	0	0	0	0	1	0	0	0	18255	1349	47	2	1443	2	ZNF93	19	20045193	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	18809177	20045193	39083790	77	994											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	372	0	0	0	1	0	5	372					T	21606468	C	T	21606468	3	4	9	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1561275	21606468	37522515	78	995											
ZNF43	7594	broad.mit.edu	37	chr19	21991811	21991811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatGtgtagggtttctctccagta	7	11	3	0	rs149679417		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21991811G>T	ENST00000354959.4	-	4	1197	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	ZNF43_ENST00000594012.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	343					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATGTGTAGGGTTT	0.383																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1009-1011)aCa>aAa		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991811G>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1028C>A	19.37:g.21991811G>T	ENSP00000347045:p.Thr343Lys					ZNF43_ENST00000354959.4_Missense_Mutation_p.T343K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K	p.T337K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1524	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	343					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1010C>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412760	0.00191	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.35973	1.28	1.76	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34625	-0.9821	9	0.02654	T	1	.	8.658	0.34075	0.0:0.0:0.6228:0.3772	.	343	P17038	ZNF43_HUMAN	K	342;343	ENSP00000347045:T343K	ENSP00000347045:T343K	T	-	2	0	ZNF43	21783651	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-0.689000	0.05149	-0.856000	0.03024	ACA		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	419	1	0	0.000157383	1	0.000161191	6	419					T	21991811	G	T	21991811	3	4	9	1	0	0	0	0	1	0	0	0	17956	1377	48	3	1405	3	ZNF43	19	21991811	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	385343	21991811	37137172	79	996											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	8	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					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.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47	50	49					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	372	0	0	0	1	0	6	372					C	22155223	T	C	22155223	2	2	9	1	0	0	0	0	0	0	0	1	17819	1490	52	4		4	ZNF208	19	22155223	Silent	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	163412	22155223	36973760	80	997											
RYR1	6261	broad.mit.edu	37	chr19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctgcacctcacaCggaaactcttctggggcatc	12	12	3	0	rs193922826		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000359596.3	+	50	8026	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2676	6 X approximate repeats.		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001). {ECO:0000269|PubMed:14732627, ECO:0000269|PubMed:16163667, ECO:0000269|PubMed:19191329}.		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)			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)	GCACCTCACACGGAAACTCTT	0.582																																						ENST00000355481.4																			0				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	GRCh37	CM044255	RYR1	M		c.(8026-8028)Cgg>Tgg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						75	67	70					19																	38994959		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38994959C>T	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.8026C>T	19.37:g.38994959C>T	ENSP00000352608:p.Arg2676Trp					RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W	p.R2676W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		50	8157	+	all_cancers(60;7.91e-06)		2676		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001).	6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8026C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777859	0.31502	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	3.97	2.91	0.33838	.	0.000000	0.64402	U	0.000007	T	0.76140	0.3946	L	0.47716	1.5	0.37413	D	0.913321	D;D	0.89917	1.0;1.0	D;P	0.68483	0.958;0.908	T	0.79264	-0.1875	10	0.66056	D	0.02	.	10.2917	0.43599	0.3951:0.6049:0.0:0.0	rs28934001	2676;2676	P21817-2;P21817	.;RYR1_HUMAN	W	2676	ENSP00000352608:R2676W;ENSP00000347667:R2676W;ENSP00000354254:R2676W	ENSP00000347667:R2676W	R	+	1	2	RYR1	43686799	0.190000	0.23276	0.598000	0.28837	0.467000	0.32768	0.830000	0.27462	0.935000	0.37341	0.305000	0.20034	CGG		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			71	123	0	0	0	1	0	71	123					T	38994959	C	T	38994959	3	4	9	1	0	0	0	0	1	0	0	0	13818	527	19	1	8224	1	RYR1	19	38994959	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	16839736	38994959	20134024	81	998											
ZNF780A	284323	broad.mit.edu	37	chr19	40580912	40580912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccacgattgaaggccttCccacagtcttgacattcaaa	8	12	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:40580912C>T	ENST00000595687.2	-	6	1646	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G	ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000450241.2_Silent_p.G445G|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.G479G	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAGGCCTTCCCACAGTCTT	0.423																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1333-1335)ggG>ggA		zinc finger protein 780A							120	115	117					19																	40580912		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580912C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1437G>A	19.37:g.40580912C>T						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000340963.5_Silent_p.G479G	p.G445G			O75290	Z780A_HUMAN			6	1646	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		479					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1335G>A	CCDS33026.2																																																																																				0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	502	0	0	0	1	0	6	502					T	40580912	C	T	40580912	2	4	9	1	0	0	0	0	0	0	0	1	18205	842	30	2		2	ZNF780A	19	40580912	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1585953	40580912	18548071	82	999											
FUZ	80199	broad.mit.edu	37	chr19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcacgcagtccacacActgggtcaggtccccgatga	11	13	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	151					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CAGTCCACACACTGGGTCAGG	0.572																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(451-453)Tgt>Cgt		fuzzy planar cell polarity protein							67	54	58					19																	50314661		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50314661A>G	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.451T>C	19.37:g.50314661A>G	ENSP00000313309:p.Cys151Arg					FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000534008.1_5'UTR	p.C151R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	5	614	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	151					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.451T>C	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591637	0.66219	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.21	4.21	0.49690	.	0.108709	0.64402	D	0.000007	T	0.42245	0.1194	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.987;0.953	T	0.36383	-0.9750	10	0.87932	D	0	-13.6359	10.9033	0.47065	1.0:0.0:0.0:0.0	.	151;115;151	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	R	115;101;151;151;51;151;101;151	ENSP00000435177:C115R;ENSP00000431731:C101R;ENSP00000313309:C151R;ENSP00000408018:C151R	ENSP00000313309:C151R	C	-	1	0	FUZ	55006473	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.087000	0.50167	1.763000	0.52060	0.379000	0.24179	TGT		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		29	49	0	0	0	1	0	29	49					G	50314661	A	G	50314661	3	3	9	1	0	0	0	0	1	0	0	0	6139	159	6	4	833	4	FUZ	19	50314661	Missense_Mutation	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	9733749	50314661	8814322	83	1000											
ZNF347	84671	broad.mit.edu	37	chr19	53644061	53644061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttacctccagtatgaaCtctccgatgtcttgcaaggt	9	10	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:53644061C>T	ENST00000334197.7	-	5	2088	c.2020G>A	c.(2020-2022)Gtt>Att	p.V674I	ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000452676.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGAACTCTCCGATGT	0.423																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2023-2025)Gtt>Att		zinc finger protein 347							160	146	151					19																	53644061		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644061C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2020G>A	19.37:g.53644061C>T	ENSP00000334146:p.Val674Ile					ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I|ZNF347_ENST00000601804.1_Intron	p.V675I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2449	-			674					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2023G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427580	0.01117	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.10645	0.015	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.44097	-0.9350	9	0.02654	T	1	.	4.6709	0.12689	0.0:0.2991:0.1577:0.5431	.	675;674	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	674;675	ENSP00000334146:V674I;ENSP00000405218:V675I	ENSP00000334146:V674I	V	-	1	0	ZNF347	58335873	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.544000	0.06077	-0.760000	0.04677	-0.290000	0.09829	GTT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	669	0	0	0	1	0	7	669					T	53644061	C	T	53644061	3	4	9	1	0	0	0	0	1	0	0	0	17914	565	20	2	503	2	ZNF347	19	53644061	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	3329400	53644061	5484922	84	1001											
SIRPA	140885	broad.mit.edu	37	chr20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccaacgtggaccccgTaggagagagcgtgtcctaca	12	13	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(601-603)gTa>gCa		signal-regulatory protein alpha							184	161	169					20																	1902206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902206T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.602T>C	20.37:g.1902206T>C	ENSP00000351621:p.Val201Ala					SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	754	+			201		VG -> AR.	Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.602T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399729	0.01165	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00603	6.28;6.28;6.28	4.51	-3.63	0.04529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.260270	0.01824	N	0.034250	T	0.00300	0.0009	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.44375	-0.9332	10	0.09338	T	0.73	.	3.967	0.09436	0.6183:0.1704:0.1094:0.102	.	181;201;201	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	201	ENSP00000382941:V201A;ENSP00000348307:V201A;ENSP00000351621:V201A	ENSP00000348307:V201A	V	+	2	0	SIRPA	1850206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.348000	0.08286	-1.353000	0.01230	GTA		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	303	0	0	0	1	0	4	303					C	1902206	T	C	1902206	3	2	9	1	0	0	0	0	1	0	0	0	14382	1638	57	4	612	4	SIRPA	20	1902206	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		1902206	61123314	85	1002											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	383	0	0	0	1	0	8	383					G	37028425	A	G	37028425	3	3	9	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08		37028425	118242135	86	1003											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		9	25						9	25	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	9	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-2J-AABH-01A-21D-A40W-08	12179870	49208295	106062265	87	1004											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	173	0	0	0	1	0	5	173					C	73811938	G	C	73811938	2	2	9	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	24603643	73811938	81458622	88	1005											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220336	130220336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggcaggttgctaagCgcgtgtggaagtccagcccg	15	10	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					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.R439C(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						GGTTGCTAAGCGCGTGTGGAA	0.453																																						ENST00000276211.5																			1	Substitution - Missense(1)	p.R439C(1)	large_intestine(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						c.(1315-1317)Cgc>Tgc		Rho GTPase activating protein 36							100	91	94					X																	130220336		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:130220336C>T		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.1315C>T	X.37:g.130220336C>T	ENSP00000276211:p.Arg439Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	p.R439C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1660	+			439					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1315C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	ARHGAP36	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		71	92	0	0	0	1	0	71	92					T	130220336	C	T	130220336	3	4	9	1	0	0	0	0	1	0	0	0	883	768	27	1	1349	1	ARHGAP36	23	130220336	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	56408398	130220336	25050224	89	1006											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		10	257						10	257	---	---	---	---	-	150817144	GCT	-	150817142	7	5	9	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-2J-AABH-01A-21D-A40W-08	20596806	150817142	4453418	90	1007											
TREX2	11219	broad.mit.edu	37	chrX	152710707	152710707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgggcacatgcacagcGtgagcttgtccaggacccgg	14	14	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000334497.2	-	11	1452	c.311C>T	c.(310-312)aCg>aTg	p.T104M	TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	104					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCACAGCGTGAGCTTGTC	0.657								Editing and processing nucleases					G|||	2	0.000529801	0.0	0.0014	3775	,	,		11757	0.0		0.0	False		,,,				2504	0.001					ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(181-183)aCg>aTg	Editing and processing nucleases	three prime repair exonuclease 2							39	40	40					X																	152710707		2200	4298	6498	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710707G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.311C>T	X.37:g.152710707G>A	ENSP00000334993:p.Thr104Met					TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M	p.T61M			Q9BQ50	TREX2_HUMAN			13	1732	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.182C>T		.	.	.	.	.	.	.	.	.	.	G	15.24	2.773557	0.49786	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.04	5.04	0.67666	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.314529	0.22446	U	0.059948	T	0.41789	0.1174	M	0.64170	1.965	0.33352	D	0.571157	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56595	-0.7953	10	0.66056	D	0.02	-21.5773	10.799	0.46476	0.0:0.1874:0.8126:0.0	.	103;104	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	61;61;61;104;104;104;103;61	ENSP00000377442:T61M;ENSP00000333441:T61M;ENSP00000345218:T61M;ENSP00000334993:T104M;ENSP00000359252:T104M;ENSP00000386078:T104M;ENSP00000401692:T103M;ENSP00000359251:T61M	ENSP00000333441:T61M	T	-	2	0	TREX2	152363901	1.000000	0.71417	0.930000	0.37139	0.399000	0.30720	4.237000	0.58681	2.082000	0.62665	0.529000	0.55759	ACG		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		28	37	0	0	0	1	0	28	37					A	152710707	G	A	152710707	3	1	9	1	0	0	0	0	1	0	0	0	16530	1145	40	1	531	1	TREX2	23	152710707	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	1893565	152710707	2559853	91	1008											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		7	95						7	95	---	---	---	---	-	4772585	CCA	-	4772583	7	5	10	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-2J-AABK-01A-31D-A40W-08		4772583	244478038	1	1009											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)			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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	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	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		8	365						8	365	---	---	---	---	-	6680071	GAA	-	6680069	7	5	10	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-2J-AABK-01A-31D-A40W-08	1907486	6680069	242570552	2	1010											
EPHB2	2048	broad.mit.edu	37	chr1	23111370	23111370	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatcatccagaatggCgccatcttccaggaaaccct	7	17	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:23111370C>A	ENST00000400191.3	+	3	630	c.612C>A	c.(610-612)ggC>ggA	p.G204G	EPHB2_ENST00000374627.1_Silent_p.G198G|EPHB2_ENST00000374630.3_Silent_p.G204G|EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374632.3_Silent_p.G204G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	204	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCAGAATGGCGCCATCTTCC	0.627																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(610-612)ggC>ggA		EPH receptor B2							43	40	41					1																	23111370		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111370C>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.612C>A	1.37:g.23111370C>A						EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374632.3_Silent_p.G204G|EPHB2_ENST00000374630.3_Silent_p.G204G|EPHB2_ENST00000374627.1_Silent_p.G198G	p.G204G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	630	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	204			Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.612C>A																																																																																					0.627	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		26	147	1	0	9.86323e-18	1	1.05371e-17	26	147					A	23111370	C	A	23111370	2	1	10	1	0	0	0	0	0	0	0	1	5193	755	27	3		3	EPHB2	1	23111370	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	16431301	23111370	226139251	3	1011											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948837	37948837	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggctacagtccctatggAtctgagctcccagccaccgc	10	16	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:37948837A>T	ENST00000373087.6	+	6	1541	c.1425A>T	c.(1423-1425)ggA>ggT	p.G475G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCTATGGATCTGAGCTCC	0.677																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1423-1425)ggA>ggT		zinc finger CCCH-type containing 12A							45	53	51					1																	37948837		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948837A>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1425A>T	1.37:g.37948837A>T							p.G475G	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			6	1541	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	475			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1425A>T	CCDS417.1																																																																																				0.677	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		52	330	0	0	0	1	0	52	330					T	37948837	A	T	37948837	2	4	10	1	0	0	0	0	0	0	0	1	17614	320	12	5		5	ZC3H12A	1	37948837	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	14837467	37948837	211301784	4	1012											
BCL9	607	broad.mit.edu	37	chr1	147092681	147092681	+	Frame_Shift_Del	DEL	C	C	-													tgctgctgcttccattaagtCcccccctgttttggggtctg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:147092681delC	ENST00000234739.3	+	8	3460	c.2720delC	c.(2719-2721)tccfs	p.S907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCATTAAGTCCCCCCCTGTT	0.622			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2719-2721)tcfs		B-cell CLL/lymphoma 9							109	108	108					1																	147092681		2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092681delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2720delC	1.37:g.147092681delC	ENSP00000234739:p.Ser907fs						p.S907fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3460	+	all_hematologic(923;0.115)		907			Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.2720delC	CCDS30833.1																																																																																				0.622	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	849						7	849	---	---	---	---	-	147092681	C	-	147092681	7	5	10	1	0	1	0	1	0	0	0	0	1382	855	30	0	2738	0	BCL9	1	147092681	Frame_Shift_Del	DEL	C	TCGA-2J-AABK-01A-31D-A40W-08	109143844	147092681	102157940	5	1013											
MLLT11	10962	broad.mit.edu	37	chr1	151039879	151039879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagaccaggagaaaaAccctgaaggtgatggcctcc	12	11	0	4			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:151039879A>G	ENST00000368921.3	+	2	2981	c.179A>G	c.(178-180)aAc>aGc	p.N60S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	60					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)				upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGAGAAAAACCCTGAAGGT	0.532																																						ENST00000368921.3																			0				upper_aerodigestive_tract(1)	1						c.(178-180)aAc>aGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11							126	125	125					1																	151039879		2203	4300	6503	SO:0001583	missense	10962				positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent			g.chr1:151039879A>G	BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"ALL1 fused gene from chromosome 1q"	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.179A>G	1.37:g.151039879A>G	ENSP00000357917:p.Asn60Ser					CDC42SE1_ENST00000439374.2_Intron	p.N60S	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	2981	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		60						Missense_Mutation	SNP	ENST00000368921.3	37	c.179A>G	CCDS982.1	.	.	.	.	.	.	.	.	.	.	A	9.105	1.005000	0.19199	.	.	ENSG00000213190	ENST00000368921	.	.	.	6.06	-12.1	0.00011	.	1.158550	0.06646	N	0.761875	T	0.03263	0.0095	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15350	-1.0440	8	0.10111	T	0.7	-3.2682	6.6906	0.23169	0.1975:0.4743:0.25:0.0781	.	60	Q13015	AF1Q_HUMAN	S	60	.	ENSP00000357917:N60S	N	+	2	0	MLLT11	149306503	0.000000	0.05858	0.065000	0.19835	0.750000	0.42670	-0.453000	0.06778	-2.338000	0.00627	-0.250000	0.11733	AAC		0.532	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085103.1	NM_006818		21	523	0	0	0	1	0	21	523					G	151039879	A	G	151039879	3	3	10	1	0	0	0	0	1	0	0	0	9668	43	2	4	181	4	MLLT11	1	151039879	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	3947198	151039879	98210742	6	1014											
CRNN	49860	broad.mit.edu	37	chr1	152382385	152382385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcctgcctcagggttGctcacttgcatccatctttg	8	14	4	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:152382385G>T	ENST00000271835.3	-	3	1235	c.1173C>A	c.(1171-1173)agC>agA	p.S391R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	391					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGGGTTGCTCACTTGCA	0.602																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1171-1173)agC>agA		cornulin							123	103	110					1																	152382385		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382385G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1173C>A	1.37:g.152382385G>T	ENSP00000271835:p.Ser391Arg					RP1-91G5.3_ENST00000411804.1_RNA	p.S391R	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1235	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		391					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1173C>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785870	0.31593	.	.	ENSG00000143536	ENST00000271835	T	0.04970	3.52	4.5	1.36	0.22044	.	0.199037	0.36066	N	0.002802	T	0.04588	0.0125	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.58721	0.844	T	0.26430	-1.0103	10	0.72032	D	0.01	.	2.4183	0.04441	0.1093:0.2065:0.4987:0.1855	.	391	Q9UBG3	CRNN_HUMAN	R	391	ENSP00000271835:S391R	ENSP00000271835:S391R	S	-	3	2	CRNN	150649009	0.069000	0.21087	0.062000	0.19696	0.038000	0.13279	0.607000	0.24209	0.495000	0.27882	0.585000	0.79938	AGC		0.602	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		42	512	1	0	2.35958e-20	1	2.55251e-20	42	512					T	152382385	G	T	152382385	3	4	10	1	0	0	0	0	1	0	0	0	3901	1310	46	3	318	3	CRNN	1	152382385	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1342506	152382385	96868236	7	1015											
APOA1BP	128240	broad.mit.edu	37	chr1	156562457	156562457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccttggggaaatgcccGcagaggtaggtggctccagt	14	10	0	1	rs375240595		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:156562457G>A	ENST00000368235.3	+	4	554	c.511G>A	c.(511-513)Gca>Aca	p.A171T	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Missense_Mutation_p.A171T|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.A171T	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAAATGCCCGCAGAGGTAGG	0.517																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(511-513)Gca>Aca		apolipoprotein A-I binding protein							99	97	97					1																	156562457		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156562457G>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.511G>A	1.37:g.156562457G>A	ENSP00000357218:p.Ala171Thr					APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.A171T|APOA1BP_ENST00000368234.3_Missense_Mutation_p.A171T	p.A171T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			4	554	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		171			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.511G>A	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	G	3.955	-0.011468	0.07727	.	.	ENSG00000163382	ENST00000446584;ENST00000368234;ENST00000368235;ENST00000368233	T;T;T	0.43294	0.95;0.95;0.95	4.27	-2.89	0.05665	YjeF-related protein, N-terminal (5);	0.997732	0.08111	N	0.996178	T	0.04634	0.0126	N	0.13043	0.29	0.09310	N	1	B;B;B	0.31817	0.341;0.021;0.223	B;B;B	0.26770	0.073;0.021;0.041	T	0.21245	-1.0251	10	0.08381	T	0.77	-5.597	2.0892	0.03653	0.1196:0.1755:0.2386:0.4663	.	171;171;171	Q5T3I3;Q8NCW5;Q5T3I4	.;AIBP_HUMAN;.	T	189;171;171;171	ENSP00000357217:A171T;ENSP00000357218:A171T;ENSP00000357216:A171T	ENSP00000357216:A171T	A	+	1	0	APOA1BP	154829081	0.000000	0.05858	0.372000	0.25991	0.482000	0.33219	-0.942000	0.03921	-0.930000	0.03752	-1.822000	0.00598	GCA		0.517	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		6	473	0	0	0	1	0	6	473					A	156562457	G	A	156562457	3	1	10	1	0	0	0	0	1	0	0	0	781	1087	38	1	525	1	APOA1BP	1	156562457	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	4180072	156562457	92688164	8	1016											
MNDA	4332	broad.mit.edu	37	chr1	158817666	158817666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgagaacagttgaccGcaagctgaaactggtgtgtg	12	8	1	3	rs146787746	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:158817666G>A	ENST00000368141.4	+	6	1397	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	379	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ACAGTTGACCGCAAGCTGAAA	0.443													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21607	0.0		0.0	False		,,,				2504	0.0					ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1135-1137)cGc>cAc		myeloid cell nuclear differentiation antigen		G	HIS/ARG	20,4386	26.2+/-53.5	0,20,2183	126	120	122		1136	-2	0	1	dbSNP_134	122	0,8600		0,0,4300	yes	missense	MNDA	NM_002432.1	29	0,20,6483	AA,AG,GG		0.0,0.4539,0.1538	probably-damaging	379/408	158817666	20,12986	2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817666G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1136G>A	1.37:g.158817666G>A	ENSP00000357123:p.Arg379His						p.R379H	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			6	1397	+	all_hematologic(112;0.0378)		379			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.1136G>A	CCDS1177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	5.483	0.274196	0.10403	0.004539	0.0	ENSG00000163563	ENST00000368141	T	0.22945	1.93	3.76	-2.02	0.07388	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	3.094270	0.01403	N	0.013692	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	P	0.51240	0.943	B	0.33960	0.173	T	0.16571	-1.0398	10	0.45353	T	0.12	9.6375	4.0021	0.09584	0.4339:0.1984:0.3678:0.0	.	379	P41218	MNDA_HUMAN	H	379	ENSP00000357123:R379H	ENSP00000357123:R379H	R	+	2	0	MNDA	157084290	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.038000	0.12144	-0.439000	0.07222	-0.440000	0.05779	CGC		0.443	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		6	563	0	0	0	1	0	6	563					A	158817666	G	A	158817666	3	1	10	1	0	0	0	0	1	0	0	0	9717	1087	38	1	1154	1	MNDA	1	158817666	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	2255209	158817666	90432955	9	1017											
TNR	7143	broad.mit.edu	37	chr1	175372615	175372615	+	Frame_Shift_Del	DEL	C	C	-													gcactggccatccacacacaCcccccggctggagcaaccca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:175372615delC	ENST00000367674.2	-	4	1345	c.637delG	c.(637-639)gtgfs	p.V213fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs			Q92752	TENR_HUMAN	tenascin R	213	Cys-rich.				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)				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)					TCCACACACACCCCCCGGCTG	0.607																																						ENST00000367674.1																			0				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						c.(637-639)tgfs		tenascin R							104	109	107					1																	175372615		2203	4300	6503	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372615delC	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.637delG	1.37:g.175372615delC	ENSP00000356646:p.Val213fs					TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs	p.V213fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1345	-	Renal(580;0.146)		213			Cys-rich.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.637delG	CCDS1318.1																																																																																				0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	998						7	998	---	---	---	---	-	175372615	C	-	175372615	7	5	10	1	0	1	0	1	0	0	0	0	16390	507	18	0	3519	0	TNR	1	175372615	Frame_Shift_Del	DEL	C	TCGA-2J-AABK-01A-31D-A40W-08	16554949	175372615	73878006	10	1018											
XPR1	9213	broad.mit.edu	37	chr1	180805698	180805698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatacatatggtgtgcgggcCattgttcagtgcattcctgc	11	9	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:180805698C>A	ENST00000367590.4	+	11	1545	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	449	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGTGCGGGCCATTGTTCAGT	0.403																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1345-1347)gcC>gcA		xenotropic and polytropic retrovirus receptor 1							111	106	108					1																	180805698		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180805698C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1347C>A	1.37:g.180805698C>A						XPR1_ENST00000367589.3_Intron	p.A449A	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			11	1545	+			449			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.1347C>A	CCDS1340.1																																																																																				0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		27	523	1	0	2.4375e-19	1	2.62031e-19	27	523					A	180805698	C	A	180805698	2	1	10	1	0	0	0	0	0	0	0	1	17505	581	21	3		3	XPR1	1	180805698	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	5433083	180805698	68444923	11	1019											
HMCN1	83872	broad.mit.edu	37	chr1	186147896	186147896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagccatgacacatgtgTaggtaaatgtcagccatatt	10	8	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:186147896T>C	ENST00000271588.4	+	104	16521	c.16292T>C	c.(16291-16293)gTa>gCa	p.V5431A	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5431					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)			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						GACACATGTGTAGGTAAATGT	0.428																																						ENST00000271588.4																			0				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						c.(16291-16293)gTa>gCa		hemicentin 1							81	76	78					1																	186147896		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147896T>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.16292T>C	1.37:g.186147896T>C	ENSP00000271588:p.Val5431Ala					HMCN1_ENST00000367492.2_Intron	p.V5431A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			104	16521	+			5431					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16292T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.221260	0.39201	.	.	ENSG00000143341	ENST00000271588	D	0.87966	-2.32	5.56	5.56	0.83823	Growth factor, receptor (1);	0.187626	0.47455	D	0.000237	D	0.83101	0.5181	L	0.48174	1.505	0.80722	D	1	B	0.31625	0.332	B	0.27380	0.079	T	0.82808	-0.0274	10	0.56958	D	0.05	.	14.5915	0.68368	0.0:0.0:0.0:1.0	.	5431	Q96RW7	HMCN1_HUMAN	A	5431	ENSP00000271588:V5431A	ENSP00000271588:V5431A	V	+	2	0	HMCN1	184414519	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.614000	0.74197	2.240000	0.73641	0.533000	0.62120	GTA		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	344	0	0	0	1	0	15	344					C	186147896	T	C	186147896	3	2	10	1	0	0	0	0	1	0	0	0	7250	1638	57	4	16706	4	HMCN1	1	186147896	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	5342198	186147896	63102725	12	1020											
CACNA1S	779	broad.mit.edu	37	chr1	201079379	201079379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggcaaagatggtgagcaaGatgatcgtctcgaagggcct	14	7	1	4			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:201079379G>C	ENST00000362061.3	-	2	397	c.171C>G	c.(169-171)atC>atG	p.I57M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I57M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	57					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)			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)	TGGTGAGCAAGATGATCGTCT	0.577																																						ENST00000362061.3																			0				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						c.(169-171)atC>atG		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						157	120	133					1																	201079379		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.chr1:201079379G>C	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.171C>G	1.37:g.201079379G>C	ENSP00000355192:p.Ile57Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.I57M	p.I57M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			2	397	-			57					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.171C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614339	0.66672	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.71698	-0.59;-0.59	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.92555	3.32	0.47862	D	0.999533	D	0.89917	1.0	D	0.91635	0.999	D	0.88364	0.2990	10	0.59425	D	0.04	.	11.4934	0.50394	0.0841:0.0:0.9159:0.0	.	57	Q13698	CAC1S_HUMAN	M	57	ENSP00000355192:I57M;ENSP00000356307:I57M	ENSP00000355192:I57M	I	-	3	3	CACNA1S	199346002	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.482000	0.60257	2.388000	0.81334	0.561000	0.74099	ATC		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		38	290	0	0	0	1	0	38	290					C	201079379	G	C	201079379	3	2	10	1	0	0	0	0	1	0	0	0	2554	932	33	5	5622	5	CACNA1S	1	201079379	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14931483	201079379	48171242	13	1021											
MTR	4548	broad.mit.edu	37	chr1	237024423	237024423	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttgtcttttttAgggcattgaaaaacatatta	5	3	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28	28	28					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	11	135	0	0	0	1	0	11	135					T	237024423	A	T	237024423	5	4	10	1	0	0	0	0	0	0	1	0	9999	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	35945044	237024423	12226198	14	1022											
RYR2	6262	broad.mit.edu	37	chr1	237948081	237948081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaacccctggaagccGccctgccctccgaggatctg	12	15	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:237948081G>A	ENST00000366574.2	+	90	13386	c.13069G>A	c.(13069-13071)Gcc>Acc	p.A4357T	RYR2_ENST00000542537.1_Missense_Mutation_p.A4341T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.A4363T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4357					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.A4355T(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)			CCTGGAAGCCGCCCTGCCCTC	0.532																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A4355T(1)	skin(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						c.(13069-13071)Gcc>Acc		ryanodine receptor 2 (cardiac)							53	53	53					1																	237948081		1919	4119	6038	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.chr1:237948081G>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.13069G>A	1.37:g.237948081G>A	ENSP00000355533:p.Ala4357Thr					RYR2_ENST00000542537.1_Missense_Mutation_p.A4341T|RYR2_ENST00000360064.6_Missense_Mutation_p.A4363T	p.A4357T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13386	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4357					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13069G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537143	0.13188	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93659	-3.26;-3.26;-3.26	5.32	1.05	0.20165	Ryanodine Receptor TM 4-6 (1);	0.568755	0.15572	N	0.255407	T	0.80613	0.4656	N	0.08118	0	0.36787	D	0.884646	B;B	0.32071	0.102;0.355	B;B	0.26614	0.028;0.071	T	0.71310	-0.4631	10	0.14252	T	0.57	-1.744	7.2896	0.26358	0.1498:0.2567:0.5934:0.0	.	1331;4357	B4DGV4;Q92736	.;RYR2_HUMAN	T	4357;4363;4341;1331	ENSP00000355533:A4357T;ENSP00000353174:A4363T;ENSP00000443798:A4341T	ENSP00000353174:A4363T	A	+	1	0	RYR2	236014704	0.000000	0.05858	0.096000	0.21009	0.123000	0.20343	0.422000	0.21296	0.032000	0.15435	-0.143000	0.13931	GCC		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		49	203	0	0	0	1	0	49	203					A	237948081	G	A	237948081	3	1	10	1	0	0	0	0	1	0	0	0	13819	1087	38	1	13427	1	RYR2	1	237948081	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	923658	237948081	11302540	15	1023											
BIRC6	57448	broad.mit.edu	37	chr2	32774494	32774494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctgtacttctcgagcttCtcagtcagtcctgcctcatc	6	15	5	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:32774494C>T	ENST00000421745.2	+	65	13224	c.13090C>T	c.(13090-13092)Ctc>Ttc	p.L4364F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4364					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)			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)					TCTCGAGCTTCTCAGTCAGTC	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(13090-13092)Ctc>Ttc		baculoviral IAP repeat containing 6							141	129	133					2																	32774494		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774494C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13090C>T	2.37:g.32774494C>T	ENSP00000393596:p.Leu4364Phe						p.L4364F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			65	13224	+	Acute lymphoblastic leukemia(172;0.155)		4364					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13090C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288897	0.80914	.	.	ENSG00000115760	ENST00000421745	D	0.84730	-1.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.92385	0.5916	10	0.72032	D	0.01	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	4364	Q9NR09	BIRC6_HUMAN	F	4364	ENSP00000393596:L4364F	ENSP00000393596:L4364F	L	+	1	0	BIRC6	32627998	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	7.818000	0.86416	2.669000	0.90835	0.650000	0.86243	CTC		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		42	413	0	0	0	1	0	42	413					T	32774494	C	T	32774494	3	4	10	1	0	0	0	0	1	0	0	0	1440	913	32	2	13348	2	BIRC6	2	32774494	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		32774494	210424879	16	1024											
CEBPZ	10153	broad.mit.edu	37	chr2	37455921	37455921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctattcttatttttcaCcttattaactgatgtccttt	4	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:37455921C>T	ENST00000234170.5	-	2	560	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	NDUFAF7_ENST00000002125.4_5'Flank|NDUFAF7_ENST00000336237.6_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTATTTTTCACCTTATTAACT	0.313																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(415-417)Gtg>Atg		CCAAT/enhancer binding protein (C/EBP), zeta							129	128	128					2																	37455921		2203	4299	6502	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455921C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.415G>A	2.37:g.37455921C>T	ENSP00000234170:p.Val139Met						p.V139M	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	560	-		all_hematologic(82;0.21)	139					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.415G>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	0.436	-0.901015	0.02472	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02498	4.27;4.27	5.32	2.46	0.29980	.	1.732560	0.02990	N	0.146738	T	0.04679	0.0127	L	0.54323	1.7	0.09310	N	1	B	0.33073	0.396	B	0.25987	0.065	T	0.42531	-0.9446	10	0.87932	D	0	.	7.308	0.26459	0.0:0.5701:0.0:0.4299	.	139	Q03701	CEBPZ_HUMAN	M	139;139;90	ENSP00000234170:V139M;ENSP00000391881:V90M	ENSP00000234170:V139M	V	-	1	0	CEBPZ	37309425	0.000000	0.05858	0.220000	0.23810	0.024000	0.10985	0.321000	0.19558	0.208000	0.20626	0.655000	0.94253	GTG		0.313	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		37	468	0	0	0	1	0	37	468					T	37455921	C	T	37455921	3	4	10	1	0	0	0	0	1	0	0	0	3213	507	18	2	2809	2	CEBPZ	2	37455921	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	4681427	37455921	205743452	17	1025											
USP39	10713	broad.mit.edu	37	chr2	85857980	85857980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaaagctctggaaccCtcgaaatttcaaggcacatg	10	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:85857980C>T	ENST00000323701.6	+	6	870	c.860C>T	c.(859-861)cCt>cTt	p.P287L	USP39_ENST00000409766.3_Missense_Mutation_p.P287L|USP39_ENST00000450066.2_Missense_Mutation_p.P184L|USP39_ENST00000409025.1_Missense_Mutation_p.P287L|USP39_ENST00000409470.1_Missense_Mutation_p.P287L|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	287	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTCTGGAACCCTCGAAATTTC	0.438																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(859-861)cCt>cTt		ubiquitin specific peptidase 39							154	155	154					2																	85857980		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85857980C>T	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.860C>T	2.37:g.85857980C>T	ENSP00000312981:p.Pro287Leu					USP39_ENST00000409025.1_Missense_Mutation_p.P287L|USP39_ENST00000409766.3_Missense_Mutation_p.P287L|USP39_ENST00000409470.1_Missense_Mutation_p.P287L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.P184L	p.P287L	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			6	870	+			287					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.860C>T	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190236	0.94923	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	H	0.94734	3.575	0.80722	D	1	D;P;D;D;D;D	0.89917	0.986;0.954;0.998;0.999;1.0;0.993	P;D;D;D;D;D	0.79784	0.898;0.934;0.971;0.991;0.993;0.943	T	0.76337	-0.2996	10	0.72032	D	0.01	-7.7009	17.9074	0.88923	0.0:1.0:0.0:0.0	.	184;209;287;287;287;287	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	L	184;287;287;287;287;287	ENSP00000396133:P184L;ENSP00000386572:P287L;ENSP00000386864:P287L;ENSP00000312981:P287L;ENSP00000386803:P287L	ENSP00000312981:P287L	P	+	2	0	USP39	85711491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.835000	0.97688	0.591000	0.81541	CCT		0.438	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		41	554	0	0	0	1	0	41	554					T	85857980	C	T	85857980	3	4	10	1	0	0	0	0	1	0	0	0	17124	681	24	2	882	2	USP39	2	85857980	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	48402059	85857980	157341393	18	1026											
NBEAL2	23218	broad.mit.edu	37	chr3	47041634	47041634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgatggcttttaccatgctCtctccccattctgcacgccc	6	17	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:47041634C>G	ENST00000450053.3	+	27	4224	c.4045C>G	c.(4045-4047)Ctc>Gtc	p.L1349V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1349					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTACCATGCTCTCTCCCCATT	0.607																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4045-4047)Ctc>Gtc		neurobeachin-like 2							141	149	146					3																	47041634		2093	4221	6314	SO:0001583	missense	23218						binding	g.chr3:47041634C>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4045C>G	3.37:g.47041634C>G	ENSP00000415034:p.Leu1349Val					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.L1349V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4224	+		Acute lymphoblastic leukemia(5;0.0534)	1349					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4045C>G	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150562	0.78001	.	.	ENSG00000160796	ENST00000450053	T	0.57436	0.4	5.48	4.61	0.57282	.	.	.	.	.	T	0.44393	0.1291	L	0.55481	1.735	0.80722	D	1	P	0.48764	0.915	B	0.36959	0.237	T	0.46317	-0.9200	9	0.46703	T	0.11	.	11.9191	0.52781	0.0:0.9153:0.0:0.0847	.	1349	Q6ZNJ1	NBEL2_HUMAN	V	1349	ENSP00000415034:L1349V	ENSP00000415034:L1349V	L	+	1	0	NBEAL2	47016638	0.957000	0.32711	0.784000	0.31847	0.955000	0.61496	2.363000	0.44178	1.320000	0.45209	0.561000	0.74099	CTC		0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		25	549	0	0	0	1	0	25	549					G	47041634	C	G	47041634	3	3	10	1	0	0	0	0	1	0	0	0	10230	913	32	5	4151	5	NBEAL2	3	47041634	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		47041634	150980796	19	1027											
WDR6	11180	broad.mit.edu	37	chr3	49049685	49049685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgtatctggaaggtgggcGacctgcgagtgcctgggggt	18	8	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:49049685G>A	ENST00000608424.1	+	2	757	c.718G>A	c.(718-720)Gac>Aac	p.D240N	WDR6_ENST00000448293.1_Missense_Mutation_p.D189N|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.D270N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	240					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAAGGTGGGCGACCTGCGAGT	0.552																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(808-810)Gac>Aac		WD repeat domain 6							89	92	91					3																	49049685		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049685G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.718G>A	3.37:g.49049685G>A	ENSP00000477389:p.Asp240Asn					WDR6_ENST00000448293.1_Missense_Mutation_p.D189N|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR	p.D270N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1088	+			240					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.808G>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.491437	0.44249	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.93953	-0.13;-3.32	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190971	0.47455	D	0.000227	D	0.85279	0.5660	L	0.38531	1.155	0.35719	D	0.817028	P;P;B	0.40107	0.703;0.703;0.266	B;B;B	0.20384	0.029;0.029;0.019	D	0.86499	0.1802	10	0.17369	T	0.5	-34.5279	12.2959	0.54847	0.0827:0.0:0.9173:0.0	.	111;240;189	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	270;189	ENSP00000378857:D270N;ENSP00000413432:D189N	ENSP00000378857:D270N	D	+	1	0	WDR6	49024689	0.998000	0.40836	0.997000	0.53966	0.973000	0.67179	3.303000	0.51858	2.650000	0.89964	0.561000	0.74099	GAC		0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			52	429	0	0	0	1	0	52	429					A	49049685	G	A	49049685	3	1	10	1	0	0	0	0	1	0	0	0	17364	1058	37	1	814	1	WDR6	3	49049685	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	2008051	49049685	148972745	20	1028											
WNT5A	7474	broad.mit.edu	37	chr3	55508430	55508430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcgtaggagcccttggCgtggatgcgctcccgctcgc	13	15	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:55508430C>T	ENST00000474267.1	-	5	1140	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	WNT5A_ENST00000497027.1_Missense_Mutation_p.A192T|WNT5A_ENST00000264634.4_Missense_Mutation_p.A207T			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	207					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCCCTTGGCGTGGATGCGC	0.682																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(619-621)Gcc>Acc		wingless-type MMTV integration site family, member 5A							20	27	25					3																	55508430		2170	4286	6456	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508430C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.619G>A	3.37:g.55508430C>T	ENSP00000417310:p.Ala207Thr					WNT5A_ENST00000264634.4_Missense_Mutation_p.A207T|WNT5A_ENST00000497027.1_Missense_Mutation_p.A192T	p.A207T			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1140	-			207					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.619G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216001	0.58452	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	T;T;T;D	0.84660	-1.03;-1.03;-1.02;-1.88	4.84	3.82	0.43975	.	0.329686	0.32987	N	0.005409	T	0.74053	0.3666	L	0.38838	1.175	0.31722	N	0.6382	B	0.06786	0.001	B	0.06405	0.002	T	0.66097	-0.6008	10	0.18710	T	0.47	.	7.1809	0.25772	0.203:0.4728:0.3242:0.0	.	207	P41221	WNT5A_HUMAN	T	207;207;118;192;192	ENSP00000417310:A207T;ENSP00000264634:A207T;ENSP00000420104:A192T;ENSP00000418184:A192T	ENSP00000264634:A207T	A	-	1	0	WNT5A	55483470	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.044000	0.49830	2.387000	0.81309	0.557000	0.71058	GCC		0.682	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		4	122	0	0	0	1	0	4	122					T	55508430	C	T	55508430	3	4	10	1	0	0	0	0	1	0	0	0	17445	768	27	1	531	1	WNT5A	3	55508430	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	6458745	55508430	142514000	21	1029											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	6	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423																																						ENST00000340333.3																			0				large_intestine(2)|lung(2)	4						c.(112-114)ctT>ctG		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like							89	82	85					3																	125651539		2203	4300	6503	SO:0001819	synonymous_variant	200810						transferase activity, transferring glycosyl groups	g.chr3:125651539A>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.114T>G	3.37:g.125651539A>C							p.L38L	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN			3	277	-			38					D3DNA5	Silent	SNP	ENST00000340333.3	37	c.114T>G	CCDS33840.1																																																																																				0.423	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	308	0	0	0	1	0	5	308					C	125651539	A	C	125651539	2	2	10	1	0	0	0	0	0	0	0	1	517	349	13	4		4	ALG1L	3	125651539	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	70143109	125651539	72370891	22	1030											
COL6A6	131873	broad.mit.edu	37	chr3	130354557	130354557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttagggtgagattggggaCcctggtggtccaggagagac	17	6	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:130354557C>T	ENST00000358511.6	+	27	5074	c.5043C>T	c.(5041-5043)gaC>gaT	p.D1681D	COL6A6_ENST00000453409.2_Silent_p.D1681D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1681	Triple-helical 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 matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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						AGATTGGGGACCCTGGTGGTC	0.373																																						ENST00000358511.6																			0				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						c.(5041-5043)gaC>gaT		collagen, type VI, alpha 6							79	81	80					3																	130354557		1851	4083	5934	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130354557C>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.5043C>T	3.37:g.130354557C>T						COL6A6_ENST00000453409.2_Silent_p.D1681D	p.D1681D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			27	5074	+			1681			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.5043C>T	CCDS46911.1																																																																																				0.373	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		9	141	0	0	0	1	0	9	141					T	130354557	C	T	130354557	2	4	10	1	0	0	0	0	0	0	0	1	3712	506	18	2		2	COL6A6	3	130354557	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	4703018	130354557	67667873	23	1031											
MAP3K13	9175	broad.mit.edu	37	chr3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccatagtgactttgccGcaatcttgaaaaaccagcca	8	12	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1810-1812)Gca>Aca		mitogen-activated protein kinase kinase kinase 13							267	290	282					3																	185190929		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190929G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1810G>A	3.37:g.185190929G>A	ENSP00000265026:p.Ala604Thr					MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T	p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2144	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		604						Missense_Mutation	SNP	ENST00000265026.3	37	c.1810G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628329	0.28978	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.47	3.66	0.41972	Protein kinase-like domain (1);	0.272838	0.34156	N	0.004210	T	0.33585	0.0868	N	0.14661	0.345	0.20074	N	0.999937	B;B;B	0.20671	0.047;0.047;0.01	B;B;B	0.17433	0.018;0.018;0.008	T	0.20672	-1.0268	10	0.37606	T	0.19	.	10.9504	0.47325	0.0684:0.0:0.8033:0.1283	.	460;397;604	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	397;604;460;460;604	ENSP00000411483:A397T;ENSP00000399910:A604T;ENSP00000409325:A460T;ENSP00000439257:A460T;ENSP00000265026:A604T	ENSP00000265026:A604T	A	+	1	0	MAP3K13	186673623	1.000000	0.71417	0.015000	0.15790	0.037000	0.13140	5.110000	0.64622	1.291000	0.44653	-0.268000	0.10319	GCA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		8	1376	0	0	0	1	0	8	1376					A	185190929	G	A	185190929	3	1	10	1	0	0	0	0	1	0	0	0	9288	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	54836372	185190929	12831501	24	1032											
CRMP1	1400	broad.mit.edu	37	chr4	5837708	5837708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgaccacgtcggcatcCgagcccacggcaatccgccc	10	18	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:5837708C>T	ENST00000397890.2	-	11	1429	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	CRMP1_ENST00000512574.1_Silent_p.S403S|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.S519S	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	405					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S519S(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGTCGGCATCCGAGCCCACGG	0.522																																						ENST00000324989.7																			1	Substitution - coding silent(1)	p.S519S(1)	stomach(1)	NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1555-1557)tcG>tcA		collapsin response mediator protein 1							149	135	140					4																	5837708		2203	4300	6503	SO:0001819	synonymous_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5837708C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1215G>A	4.37:g.5837708C>T						CRMP1_ENST00000397890.2_Silent_p.S405S|CRMP1_ENST00000512574.1_Silent_p.S403S|CRMP1_ENST00000511535.1_5'UTR	p.S519S	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	11	1645	-			405					A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	c.1557G>A	CCDS43207.1																																																																																				0.522	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		5	515	0	0	0	1	0	5	515					T	5837708	C	T	5837708	2	4	10	1	0	0	0	0	0	0	0	1	3899	639	23	1		1	CRMP1	4	5837708	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		5837708	185316568	25	1033											
KIAA1211	57482	broad.mit.edu	37	chr4	57193838	57193838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgactcggctcccccagcGccgctggtaaaagaagtcac	10	16	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:57193838G>A	ENST00000504228.1	+	9	3675	c.3570G>A	c.(3568-3570)gcG>gcA	p.A1190A	KIAA1211_ENST00000541073.1_Silent_p.A1183A|KIAA1211_ENST00000264229.6_Silent_p.A1190A			Q6ZU35	K1211_HUMAN	KIAA1211	1190										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCCAGCGCCGCTGGTAA	0.483																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3568-3570)gcG>gcA		KIAA1211							89	94	92					4																	57193838		1821	4085	5906	SO:0001819	synonymous_variant	57482							g.chr4:57193838G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3570G>A	4.37:g.57193838G>A						KIAA1211_ENST00000264229.6_Silent_p.A1190A|KIAA1211_ENST00000541073.1_Silent_p.A1183A	p.A1190A			Q6ZU35	K1211_HUMAN			9	3675	+	Glioma(25;0.08)|all_neural(26;0.101)		1190					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3570G>A	CCDS43230.1																																																																																				0.483	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		9	752	0	0	0	1	0	9	752					A	57193838	G	A	57193838	2	1	10	1	0	0	0	0	0	0	0	1	8245	1074	38	1		1	KIAA1211	4	57193838	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	51356130	57193838	133960438	26	1034											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854551	79854551	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaagctcctgaacctcGcctttctaaaactgcatgat	8	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:79854551G>A	ENST00000338682.3	-	5	1960	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	430						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCTGAACCTCGCCTTTCTAAA	0.468																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(1288-1290)Cga>Tga		ankyrin repeat domain 34B							109	115	113					5																	79854551		2203	4300	6503	SO:0001587	stop_gained	340120					cytoplasm|nucleus		g.chr5:79854551G>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1288C>T	5.37:g.79854551G>A	ENSP00000339802:p.Arg430*						p.R430*	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1960	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	430					B2RPH1|Q68D79	Nonsense_Mutation	SNP	ENST00000338682.3	37	c.1288C>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	40	8.135039	0.98670	.	.	ENSG00000189127	ENST00000338682	.	.	.	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0151	15.5464	0.76104	0.0:0.1383:0.8617:0.0	.	.	.	.	X	430	.	ENSP00000339802:R430X	R	-	1	2	ANKRD34B	79890307	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	2.812000	0.47994	2.873000	0.98535	0.563000	0.77884	CGA		0.468	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		16	421	0	0	0	1	0	16	421					A	79854551	G	A	79854551	4	1	10	1	0	0	0	0	0	1	0	0	663	1095	38	1	260	1	ANKRD34B	5	79854551	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		79854551	101060709	27	1035											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773115	140773115	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccggtttttcctcacccGatttaccgagtgaaagtcct	8	14	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:140773115G>A	ENST00000398604.2	+	1	735	c.735G>A	c.(733-735)ccG>ccA	p.P245P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	245	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)			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)			TTCCTCACCCGATTTACCGAG	0.567																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(733-735)ccG>ccA									80	85	83					5																	140773115		2032	4199	6231	SO:0001819	synonymous_variant	0							g.chr5:140773115G>A	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.735G>A	5.37:g.140773115G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P245P	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	735	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.735G>A	CCDS47291.1																																																																																				0.567	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		10	577	0	0	0	1	0	10	577					A	140773115	G	A	140773115	2	1	10	1	0	0	0	0	0	0	0	1	11602	1045	37	1		1	PCDHGA8	5	140773115	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	60918564	140773115	40142145	28	1036											
PROP1	5626	broad.mit.edu	37	chr5	177421284	177421284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccttgcggggagaaCcttgatctcccccctcctgc	9	17	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:177421284C>A	ENST00000308304.2	-	2	473	c.165G>T	c.(163-165)agG>agT	p.R55S		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	55					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGGAGAACCTTGATCTCC	0.662																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(163-165)agG>agT		PROP paired-like homeobox 1							23	24	24					5																	177421284		2199	4299	6498	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421284C>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.165G>T	5.37:g.177421284C>A	ENSP00000311290:p.Arg55Ser						p.R55S	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	473	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	55						Missense_Mutation	SNP	ENST00000308304.2	37	c.165G>T	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	7.946	0.743725	0.15642	.	.	ENSG00000175325	ENST00000308304	D	0.89123	-2.47	2.49	-1.51	0.08664	Homeodomain-related (1);	0.319443	0.22765	N	0.055904	T	0.69860	0.3158	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.28553	0.091	T	0.66380	-0.5938	10	0.10377	T	0.69	-4.9502	2.364	0.04314	0.2286:0.369:0.0:0.4024	.	55	O75360	PROP1_HUMAN	S	55	ENSP00000311290:R55S	ENSP00000311290:R55S	R	-	3	2	PROP1	177353890	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.413000	0.21148	-0.354000	0.08212	0.306000	0.20318	AGG		0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		12	90	1	0	3.07112e-06	1	3.12563e-06	12	90					A	177421284	C	A	177421284	3	1	10	1	0	0	0	0	1	0	0	0	12604	506	18	3	523	3	PROP1	5	177421284	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	36648169	177421284	3493976	29	1037											
FAM8A1	51439	broad.mit.edu	37	chr6	17608519	17608519	+	Silent	SNP	T	T	C													tttcagcataatcgaacagcTtatgacattgtagcaggaac							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608519T>C	ENST00000259963.3	+	5	1246	c.1191T>C	c.(1189-1191)gcT>gcC	p.A397A		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	397	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATCGAACAGCTTATGACATTG	0.383																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1189-1191)gcT>gcC		family with sequence similarity 8, member A1							100	95	97					6																	17608519		2203	4300	6503	SO:0001819	synonymous_variant	51439					integral to membrane		g.chr6:17608519T>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1191T>C	6.37:g.17608519T>C							p.A397A	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1246	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	397			RDD.		B2R725	Silent	SNP	ENST00000259963.3	37	c.1191T>C	CCDS4540.1																																																																																				0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	389	0	0	0	1	0	5	389					C	17608519	T	C	17608519	2	2	10	1	0	0	0	0	0	0	0	1	5674	1596	56	4		4	FAM8A1	6	17608519	Silent	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08		17608519	153506548	30	1038	11	2									
FAM8A1	51439	broad.mit.edu	37	chr6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C													taatcgaacagcttatgacaTtgtagcaggaaccattgtgg					rs200658703		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1198-1200)aTt>aCt		family with sequence similarity 8, member A1							95	90	91					6																	17608527		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17608527T>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1199T>C	6.37:g.17608527T>C	ENSP00000259963:p.Ile400Thr						p.I400T	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1254	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	400			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1199T>C	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375621	0.82682	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	RDD (1);	0.101193	0.64402	D	0.000002	T	0.72061	0.3414	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.76288	-0.3014	9	0.72032	D	0.01	-7.7083	15.837	0.78805	0.0:0.0:0.0:1.0	.	400	Q9UBU6	FA8A1_HUMAN	T	150;400	.	ENSP00000259963:I400T	I	+	2	0	FAM8A1	17716506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.143000	0.66587	0.455000	0.32223	ATT		0.398	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			6	364	0	0	0	1	0	6	364					C	17608527	T	C	17608527	3	2	10	1	0	0	0	0	1	0	0	0	5674	1493	52	4	1217	4	FAM8A1	6	17608527	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	8	17608527	153506540	31	1039	11	2									
VARS	7407	broad.mit.edu	37	chr6	31752372	31752372	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggttggggggcgcacCtcaatgtcagagatggcgga	18	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:31752372C>T	ENST00000375663.3	-	11	1907	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	VARS_ENST00000444930.2_Splice_Site_p.E194E|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	489					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGGGCGCACCTCAATGTCAG	0.582																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.e11+1		valyl-tRNA synthetase	L-Valine(DB00161)						89	76	80					6																	31752372		1511	2709	4220	SO:0001630	splice_region_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752372C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1467+1G>A	6.37:g.31752372C>T						VARS_ENST00000444930.2_Splice_Site_p.E194_splice	p.E489_splice	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			11	1907	-			489					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Splice_Site	SNP	ENST00000375663.3	37	c.1467_splice	CCDS34412.1																																																																																				0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	Silent	13	264	0	0	0	1	0	13	264					T	31752372	C	T	31752372	5	4	10	1	0	0	0	0	0	0	1	0	17177	695	24	2	2407	2	VARS	6	31752372	Splice_Site	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	14143845	31752372	139362695	32	1040											
PBX2	5089	broad.mit.edu	37	chr6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctcggcctcccgggaCccccccgctacccccaccgg	8	25	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711																																						ENST00000375050.4																			2	Substitution - Missense(2)	p.V44F(2)	prostate(1)|lung(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(130-132)Gtc>Ttc		pre-B-cell leukemia homeobox 2							29	31	30					6																	32157563		1509	2708	4217	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157563C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.130G>T	6.37:g.32157563C>A	ENSP00000364190:p.Val44Phe						p.V44F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	400	-			44					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.130G>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564390	0.65651	.	.	ENSG00000204304	ENST00000375050	T	0.80653	-1.4	4.56	4.56	0.56223	.	0.219742	0.22684	N	0.056918	T	0.49098	0.1537	N	0.14661	0.345	0.37506	D	0.916978	B;B	0.30542	0.284;0.176	B;B	0.15052	0.012;0.012	T	0.58999	-0.7536	10	0.52906	T	0.07	-5.1027	10.8156	0.46573	0.0:0.8072:0.1928:0.0	.	44;44	Q7KZE5;P40425	.;PBX2_HUMAN	F	44	ENSP00000364190:V44F	ENSP00000364190:V44F	V	-	1	0	PBX2	32265541	0.974000	0.33945	1.000000	0.80357	0.971000	0.66376	1.692000	0.37731	2.062000	0.61559	0.542000	0.68232	GTC		0.711	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			5	140	1	0	0.00116845	1	0.00117528	5	140					A	32157563	C	A	32157563	3	1	10	1	0	0	0	0	1	0	0	0	11535	507	18	3	1198	3	PBX2	6	32157563	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	405191	32157563	138957504	33	1041											
DOPEY1	23033	broad.mit.edu	37	chr6	83847927	83847927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctttctctgccatcaAagccatcttgaaaactaacc	5	12	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:83847927A>G	ENST00000349129.2	+	21	4426	c.4166A>G	c.(4165-4167)aAa>aGa	p.K1389R	DOPEY1_ENST00000237163.5_Missense_Mutation_p.K1370R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.K1380R|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1389					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTGCCATCAAAGCCATCTTG	0.373																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4165-4167)aAa>aGa		dopey family member 1							131	138	136					6																	83847927		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83847927A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4166A>G	6.37:g.83847927A>G	ENSP00000195654:p.Lys1389Arg					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.K1370R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.K1380R	p.K1389R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4426	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1389					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4166A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278737	0.23307	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42900	0.96;0.96	6.16	6.16	0.99307	.	0.140329	0.64402	D	0.000004	T	0.20455	0.0492	N	0.25201	0.72	0.80722	D	1	P;P;P	0.50156	0.932;0.791;0.791	P;B;B	0.45310	0.476;0.196;0.196	T	0.03829	-1.1000	10	0.12430	T	0.62	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1280;1380;1389	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1389;1370;1370	ENSP00000195654:K1389R;ENSP00000237163:K1370R	ENSP00000237163:K1370R	K	+	2	0	DOPEY1	83904646	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.770000	0.55310	2.367000	0.80283	0.528000	0.53228	AAA		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		28	535	0	0	0	1	0	28	535					G	83847927	A	G	83847927	3	3	10	1	0	0	0	0	1	0	0	0	4723	14	1	4	4240	4	DOPEY1	6	83847927	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	51690364	83847927	87267140	34	1042											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	370						7	370	---	---	---	---	-	137815212	TGG	-	137815210	7	5	10	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-2J-AABK-01A-31D-A40W-08	53967283	137815210	33299857	35	1043											
POM121C	100101267	broad.mit.edu	37	chr7	75070289	75070291	+	In_Frame_Del	DEL	TTC	TTC	-													cttcttcctccactgtccttTtcttcttcttctctttgagg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:75070289_75070291delTTC	ENST00000257665.5	-	3	893_895	c.894_896delGAA	c.(892-897)aagaaa>aaa	p.298_299KK>K	POM121C_ENST00000453279.2_In_Frame_Del_p.56_57KK>K			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	298	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CACTGTCCTTTTCTTCTTCTTCT	0.468																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(166-171)aaa>aa		POM121 transmembrane nucleoporin C																																				SO:0001651	inframe_deletion	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070289_75070291delTTC		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.894_896delGAA	7.37:g.75070298_75070300delTTC	ENSP00000257665:p.Lys299del					POM121C_ENST00000257665.5_In_Frame_Del_p.KK298del	p.KK56del	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			5	1032_1034	-			298			Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	In_Frame_Del	DEL	ENST00000257665.5	37	c.168_170delGAA																																																																																					0.468	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		7	944						7	944	---	---	---	---	-	75070291	TTC	-	75070289	7	5	10	1	0	1	0	1	0	0	0	0	12282	1841	64	0	2837	0	POM121C	7	75070289	In_Frame_Del	DEL	TTC	TCGA-2J-AABK-01A-31D-A40W-08		75070289	84068374	36	1044											
CCL26	10344	broad.mit.edu	37	chr7	75401253	75401253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtgaattcatagcttcGcacccaggtccagggaaggg	13	10	1	1	rs200686147		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:75401253G>A	ENST00000394905.2	-	3	399	c.142C>T	c.(142-144)Cga>Tga	p.R48*	CCL26_ENST00000005180.4_Nonsense_Mutation_p.R48*	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	48					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						TCATAGCTTCGCACCCAGGTC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		18958	0.0		0.001	False		,,,				2504	0.0					ENST00000394905.2																			0				lung(3)	3						c.(142-144)Cga>Tga		chemokine (C-C motif) ligand 26							103	98	100					7																	75401253		2203	4300	6503	SO:0001587	stop_gained	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75401253G>A	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"Chemokine ligands", "Endogenous ligands"	10625	protein-coding gene	gene with protein product	"macrophage inflammatory protein 4-alpha", "small inducible cytokine A26", "CC chemokine IMAC", "chemokine N1", "thymic stroma chemokine-1", "eotaxin-3"	604697	"small inducible cytokine subfamily A (Cys-Cys), member 26"	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.142C>T	7.37:g.75401253G>A	ENSP00000378365:p.Arg48*					CCL26_ENST00000005180.4_Nonsense_Mutation_p.R48*	p.R48*	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN			3	399	-			48					A0N0Q5|Q52LV8	Nonsense_Mutation	SNP	ENST00000394905.2	37	c.142C>T	CCDS5578.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.9	4.355434	0.82243	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	.	.	.	3.61	0.592	0.17471	.	2.078680	0.02083	N	0.052554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	4.5482	0.12092	0.1229:0.0:0.5932:0.2838	.	.	.	.	X	48	.	ENSP00000005180:R48X	R	-	1	2	CCL26	75239189	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.693000	0.05121	0.010000	0.14839	0.400000	0.26472	CGA		0.527	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		36	314	0	0	0	1	0	36	314					A	75401253	G	A	75401253	4	1	10	1	0	0	0	0	0	1	0	0	2905	1095	38	1	150	1	CCL26	7	75401253	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	330964	75401253	83737410	37	1045											
BRAF	673	broad.mit.edu	37	chr7	140481423	140481423	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaatgatccagatccaattCtttgtcccactgtaatctgc	5	12	2	2	rs180177032		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:140481423C>G	ENST00000288602.6	-	11	1445	c.1385G>C	c.(1384-1386)aGa>aCa	p.R462T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> I (in CRC). {ECO:0000269|PubMed:12198537}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R462I(2)|p.R462K(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AGATCCAATTCTTTGTCCCAC	0.393		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Substitution - Missense(3)	p.R462I(2)|p.R462K(1)	endometrium(2)|large_intestine(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1384-1386)aGa>aCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						171	146	155					7																	140481423		2203	4298	6501	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481423C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1385G>C	7.37:g.140481423C>G	ENSP00000288602:p.Arg462Thr						p.R462T	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1445	-	Melanoma(164;0.00956)		462		R -> I (in colorectal cancer).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1385G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.309763|4.309763	0.81247|0.81247	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.82167	.|-1.58	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.043720	.|0.85682	.|D	.|0.000000	T|T	0.78470|0.78470	0.4288|0.4288	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	.|B	.|0.28026	.|0.198	.|B	.|0.26094	.|0.066	T|T	0.77070|0.77070	-0.2724|-0.2724	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|462	.|P15056	.|BRAF_HUMAN	Q|T	70|462	.|ENSP00000288602:R462T	.|ENSP00000288602:R462T	E|R	-|-	1|2	0|0	BRAF|BRAF	140127892|140127892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.072000|6.072000	0.71238|0.71238	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		55	377	0	0	0	1	0	55	377					G	140481423	C	G	140481423	3	3	10	1	0	0	0	0	1	0	0	0	1500	913	32	5	947	5	BRAF	7	140481423	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	65080170	140481423	18657240	38	1046											
EPHA1	2041	broad.mit.edu	37	chr7	143092446	143092446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagatgcagaatatgCgggtggctaaactggcccat	11	11	0	2	rs148018022		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:143092446C>T	ENST00000275815.3	-	12	2135	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGAATATGCGGGTGGCTAA	0.542											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2047-2049)ccG>ccA		EPH receptor A1		C		1,4405	2.1+/-5.4	0,1,2202	277	284	282		2049	-9.7	0.4	7	dbSNP_134	282	0,8600		0,0,4300	no	coding-synonymous	EPHA1	NM_005232.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		683/977	143092446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143092446C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2049G>A	7.37:g.143092446C>T			OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.P683P	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			12	2135	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	683			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2049G>A	CCDS5884.1																																																																																				0.542	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	1637	0	0	0	1	0	9	1637					T	143092446	C	T	143092446	2	4	10	1	0	0	0	0	0	0	0	1	5183	755	27	1		1	EPHA1	7	143092446	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	2611023	143092446	16046217	39	1047											
CLU	1191	broad.mit.edu	37	chr8	27462692	27462692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggtgaagaacctgTcctggaagagctcgtctatg	13	11	1	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:27462692T>C	ENST00000316403.10	-	5	983	c.578A>G	c.(577-579)gAc>gGc	p.D193G	CLU_ENST00000546343.1_Missense_Mutation_p.D204G|CLU_ENST00000523500.1_Missense_Mutation_p.D193G|CLU_ENST00000405140.3_Missense_Mutation_p.D193G|CLU_ENST00000560366.1_Missense_Mutation_p.D245G			P10909	CLUS_HUMAN	clusterin	193					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAAGAACCTGTCCTGGAAGAG	0.612																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(577-579)gAc>gGc		clusterin							89	81	84					8																	27462692		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27462692T>C	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.578A>G	8.37:g.27462692T>C	ENSP00000315130:p.Asp193Gly					CLU_ENST00000560366.1_Missense_Mutation_p.D245G|CLU_ENST00000523500.1_Missense_Mutation_p.D193G|CLU_ENST00000546343.1_Missense_Mutation_p.D204G|CLU_ENST00000405140.3_Missense_Mutation_p.D193G	p.D193G			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	5	983	-		Ovarian(32;2.61e-05)	193					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.578A>G	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754978	0.31046	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589;ENST00000520796	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	4.96	1.18	0.20946	Clusterin, N-terminal (1);	0.271710	0.40385	N	0.001116	T	0.29126	0.0724	M	0.79475	2.455	0.39868	D	0.973464	P;P;P;P	0.52316	0.916;0.952;0.873;0.625	B;B;B;B	0.43155	0.41;0.337;0.225;0.192	T	0.21586	-1.0241	10	0.66056	D	0.02	-18.8233	8.6897	0.34260	0.0:0.2008:0.0:0.7992	.	58;245;204;193	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	G	245;204;193;193;18;58;193;193	ENSP00000446413:D204G;ENSP00000385419:D193G;ENSP00000429620:D193G;ENSP00000431070:D193G;ENSP00000429336:D193G	ENSP00000315130:D245G	D	-	2	0	CLU	27518609	1.000000	0.71417	0.556000	0.28293	0.320000	0.28249	1.512000	0.35812	0.263000	0.21812	0.460000	0.39030	GAC		0.612	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		7	198	0	0	0	1	0	7	198					C	27462692	T	C	27462692	3	2	10	1	0	0	0	0	1	0	0	0	3577	1667	58	4	791	4	CLU	8	27462692	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08		27462692	118901330	40	1048											
CPSF1	29894	broad.mit.edu	37	chr8	145620538	145620538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtgggatgcgggcacaCggcgtgttggtgctggtggc	20	8	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:145620538C>T	ENST00000349769.3	-	28	3223	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1043					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGGCACACGGCGTGTTGG	0.632																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3127-3129)ccG>ccA		cleavage and polyadenylation specific factor 1, 160kDa							57	57	57					8																	145620538		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620538C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3129G>A	8.37:g.145620538C>T							p.P1043P	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		28	3223	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1043					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.3129G>A	CCDS34966.1																																																																																				0.632	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		13	123	0	0	0	1	0	13	123					T	145620538	C	T	145620538	2	4	10	1	0	0	0	0	0	0	0	1	3833	523	19	1		1	CPSF1	8	145620538	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	118157846	145620538	743484	41	1049											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		12	81	0	0	0	1	0	12	81					A	21971120	G	A	21971120	4	1	10	1	0	0	0	0	0	1	0	0	3170	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		21971120	119242311	42	1050											
LINGO2	158038	broad.mit.edu	37	chr9	27949709	27949709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagcacgcgtaggaagcGgagcccttggaaggagtgag	17	7	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:27949709G>A	ENST00000379992.2	-	6	1410	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R321C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	321						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGTAGGAAGCGGAGCCCTTGG	0.527																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(961-963)Cgc>Tgc		leucine rich repeat and Ig domain containing 2							84	87	86					9																	27949709		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949709G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.961C>T	9.37:g.27949709G>A	ENSP00000369328:p.Arg321Cys					LINGO2_ENST00000308675.3_Missense_Mutation_p.R321C	p.R321C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1410	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	321					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.961C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699273	0.48307	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57907	0.37;0.37	5.95	5.95	0.96441	.	0.116612	0.64402	D	0.000016	T	0.71039	0.3293	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.67043	-0.5770	9	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	321	Q7L985	LIGO2_HUMAN	C	321	ENSP00000369328:R321C;ENSP00000310126:R321C	.	R	-	1	0	LINGO2	27939709	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.357000	0.52277	2.824000	0.97209	0.655000	0.94253	CGC		0.527	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		26	308	0	0	0	1	0	26	308					A	27949709	G	A	27949709	3	1	10	1	0	0	0	0	1	0	0	0	8848	1116	39	1	863	1	LINGO2	9	27949709	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	5978589	27949709	113263722	43	1051											
FLJ46321	389763	broad.mit.edu	37	chr9	84606351	84606351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaagtctcaccatcttgaaGacttttccggaaatgttatc	6	10	3	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:84606351G>T	ENST00000344803.2	+	4	1013	c.966G>T	c.(964-966)aaG>aaT	p.K322N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	322					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATCTTGAAGACTTTTCCGG	0.468																																						ENST00000344803.2																			0											c.(964-966)aaG>aaT		SPATA31 subfamily D, member 1							188	170	175					9																	84606351		1935	4128	6063	SO:0001583	missense	389763							g.chr9:84606351G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.966G>T	9.37:g.84606351G>T	ENSP00000341988:p.Lys322Asn						p.K322N	NM_001001670.2	NP_001001670.1					4	1013	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.966G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553937	0.27739	.	.	ENSG00000214929	ENST00000344803	T	0.07021	3.23	2.99	-5.01	0.02991	.	.	.	.	.	T	0.06005	0.0156	L	0.36672	1.1	0.09310	N	1	P	0.52316	0.952	B	0.44085	0.44	T	0.15037	-1.0451	9	0.22706	T	0.39	.	5.6564	0.17644	0.6383:0.0:0.2056:0.1561	.	322	Q6ZQQ2	F75D1_HUMAN	N	322	ENSP00000341988:K322N	ENSP00000341988:K322N	K	+	3	2	FAM75D1	83796171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.588000	0.05774	-1.307000	0.02321	-0.911000	0.02809	AAG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	809	1	0	3.07112e-06	1	3.12563e-06	11	809					T	84606351	G	T	84606351	3	4	10	1	0	0	0	0	1	0	0	0	5957	933	33	3	980	3	FLJ46321	9	84606351	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	56656642	84606351	56607080	44	1052											
DENND1A	57706	broad.mit.edu	37	chr9	126202749	126202749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttctggggtgggggCgcagccattctcggcaatgt	15	11	3	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:126202749C>T	ENST00000373624.2	-	19	1579	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	DENND1A_ENST00000373618.1_Missense_Mutation_p.A428T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.A202T|DENND1A_ENST00000373620.3_Missense_Mutation_p.A460T|DENND1A_ENST00000394215.2_Missense_Mutation_p.A430T|DENND1A_ENST00000394219.3_Missense_Mutation_p.A428T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	460					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGGTGGGGGCGCAGCCATTC	0.622																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1378-1380)Gcc>Acc		DENN/MADD domain containing 1A							53	48	49					9																	126202749		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126202749C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1378G>A	9.37:g.126202749C>T	ENSP00000362727:p.Ala460Thr					DENND1A_ENST00000373620.3_Missense_Mutation_p.A460T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.A428T|DENND1A_ENST00000542603.1_Missense_Mutation_p.A202T|DENND1A_ENST00000373618.1_Missense_Mutation_p.A428T|DENND1A_ENST00000394215.2_Missense_Mutation_p.A430T	p.A460T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			19	1579	-			460					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1378G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.802047	0.31869	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.22945	3.39;1.93;3.26;3.38;3.24;3.25	5.58	2.27	0.28462	.	0.627020	0.17144	N	0.185346	T	0.12305	0.0299	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B;B	0.20052	0.02;0.007;0.002;0.014;0.017;0.003;0.041	B;B;B;B;B;B;B	0.12156	0.007;0.006;0.002;0.003;0.004;0.002;0.007	T	0.32666	-0.9898	10	0.07030	T	0.85	-2.3994	4.3489	0.11146	0.1645:0.4533:0.0:0.3822	.	428;418;428;430;460;460;280	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	T	460;202;428;460;430;428	ENSP00000362727:A460T;ENSP00000437457:A202T;ENSP00000377766:A428T;ENSP00000362722:A460T;ENSP00000377763:A430T;ENSP00000362720:A428T	ENSP00000362720:A428T	A	-	1	0	DENND1A	125242570	0.049000	0.20398	0.571000	0.28486	0.558000	0.35554	0.343000	0.19944	0.670000	0.31165	0.655000	0.94253	GCC		0.622	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		18	240	0	0	0	1	0	18	240					T	126202749	C	T	126202749	3	4	10	1	0	0	0	0	1	0	0	0	4442	768	27	1	1774	1	DENND1A	9	126202749	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	41596398	126202749	15010682	45	1053											
CACNA1B	774	broad.mit.edu	37	chr9	141012490	141012490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggccacccctggagcGtggccactccacagagatcc	12	17	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:141012490G>A	ENST00000371372.1	+	43	6015	c.5870G>A	c.(5869-5871)cGt>cAt	p.R1957H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1958H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1955H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1956H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1151H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1957					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCTGGAGCGTGGCCACTCC	0.617																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3451-3453)cGt>cAt		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						19	23	22					9																	141012490		1906	4124	6030	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012490G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5870G>A	9.37:g.141012490G>A	ENSP00000360423:p.Arg1957His					CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1958H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1956H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1955H	p.R1151H			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	43	6021	+	all_cancers(76;0.166)		1957					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3452G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019883	0.75275	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97328	-4.07;-4.1;-4.34;-4.08;-4.06;-4.06	4.47	4.47	0.54385	.	1.579960	0.03633	N	0.238175	D	0.96632	0.8901	M	0.73962	2.25	0.80722	D	1	P;P	0.38922	0.651;0.651	B;B	0.35073	0.195;0.139	D	0.86427	0.1758	10	0.21540	T	0.41	.	16.756	0.85499	0.0:0.0:1.0:0.0	.	1956;1955	B1AQK7;B1AQK6	.;.	H	1957;1957;1151;1955;1956;1958	ENSP00000360423:R1957H;ENSP00000277551:R1957H;ENSP00000277549:R1151H;ENSP00000360414:R1955H;ENSP00000360408:R1956H;ENSP00000360406:R1958H	ENSP00000277549:R1151H	R	+	2	0	CACNA1B	140132311	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	0.082000	0.14847	2.036000	0.60181	0.561000	0.74099	CGT		0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	57	0	0	0	1	0	6	57					A	141012490	G	A	141012490	3	1	10	1	0	0	0	0	1	0	0	0	2546	1145	40	1	6036	1	CACNA1B	9	141012490	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14809741	141012490	200941	46	1054											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	638						7	638	---	---	---	---	-	81070789	CTC	-	81070787	7	5	10	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-2J-AABK-01A-31D-A40W-08		81070787	54463960	47	1055											
SORCS1	114815	broad.mit.edu	37	chr10	108434807	108434807	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatacttttcaacttacGtcatgatgagagtctcttct	5	10	5	2	rs533738961		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:108434807G>A	ENST00000263054.6	-	14	1947	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	SORCS1_ENST00000369698.1_Splice_Site_p.T182I|SORCS1_ENST00000344440.6_Splice_Site_p.T647I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	647					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.e14+1		sortilin-related VPS10 domain containing receptor 1							124	117	119					10																	108434807		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434807G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1940+1C>T	10.37:g.108434807G>A						SORCS1_ENST00000369698.1_Splice_Site_p.T182_splice|SORCS1_ENST00000344440.6_Splice_Site_p.T647_splice	p.T647_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1947	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	647					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.1940_splice	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787704	0.90367	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.38560	1.13;1.13;1.13	5.92	5.92	0.95590	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.79805	2.47	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.68006	-0.5523	9	.	.	.	-13.2981	20.3206	0.98668	0.0:0.0:1.0:0.0	.	647;647;647;647;647	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	182;647;647	ENSP00000358712:T182I;ENSP00000263054:T647I;ENSP00000345964:T647I	.	T	-	2	0	SORCS1	108424797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.628000	0.83189	2.809000	0.96659	0.655000	0.94253	ACA		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Missense_Mutation	38	344	0	0	0	1	0	38	344					A	108434807	G	A	108434807	5	1	10	1	0	0	0	0	0	0	1	0	14980	1159	40	1	1852	1	SORCS1	10	108434807	Splice_Site	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	27364020	108434807	27099940	48	1056											
DCHS1	8642	broad.mit.edu	37	chr11	6653418	6653418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccacagccaggaaggtggGatcctcagacaagcggggac	15	11	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:6653418G>A	ENST00000299441.3	-	6	3736	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1109	Cadherin 10. {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)			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)		AGGAAGGTGGGATCCTCAGAC	0.607																																						ENST00000299441.3																			0				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						c.(3325-3327)Ccc>Tcc		dachsous cadherin-related 1							93	86	88					11																	6653418		2201	4295	6496	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653418G>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.3325C>T	11.37:g.6653418G>A	ENSP00000299441:p.Pro1109Ser					RP11-732A19.6_ENST00000526633.1_RNA	p.P1109S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3736	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1109			Cadherin 10.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3325C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825234	0.32237	.	.	ENSG00000166341	ENST00000299441	T	0.05258	3.47	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.46145	D	0.000310	T	0.07458	0.0188	N	0.03608	-0.345	0.32893	D	0.512082	D	0.69078	0.997	D	0.75484	0.986	T	0.38972	-0.9636	10	0.13108	T	0.6	.	12.2061	0.54353	0.0:0.0:0.8297:0.1703	.	1109	Q96JQ0	PCD16_HUMAN	S	1109	ENSP00000299441:P1109S	ENSP00000299441:P1109S	P	-	1	0	DCHS1	6609994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.514000	0.60482	2.584000	0.87258	0.561000	0.74099	CCC		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	103	0	0	0	1	0	5	103					A	6653418	G	A	6653418	3	1	10	1	0	0	0	0	1	0	0	0	4298	1174	41	2	6635	2	DCHS1	11	6653418	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		6653418	128353098	49	1057											
CTNND1	1500	broad.mit.edu	37	chr11	57582920	57582920	+	Frame_Shift_Del	DEL	G	G	-													ccacaatagaacactggatcGatcgggggatctaggcgaca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:57582920delG	ENST00000399050.4	+	19	3292	c.2756delG	c.(2755-2757)cgafs	p.R919fs	CTNND1_ENST00000534579.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.R892fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.R791fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.R569fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.R838fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	919					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACACTGGATCGATCGGGGGAT	0.393																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(2737-2739)cafs		catenin (cadherin-associated protein), delta 1							68	69	69					11																	57582920		1859	4099	5958	SO:0001589	frameshift_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57582920delG	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2756delG	11.37:g.57582920delG	ENSP00000382004:p.Arg919fs					CTNND1_ENST00000529919.1_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.R569fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.R838fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.R892fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.R791fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.R590fs	p.R913fs			O60716	CTND1_HUMAN			18	3251	+		all_epithelial(135;0.155)	919					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	ENST00000399050.4	37	c.2738delG	CCDS44604.1																																																																																				0.393	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		11	97						11	97	---	---	---	---	-	57582920	G	-	57582920	7	5	10	1	0	1	0	1	0	0	0	0	4030	1058	37	0	2822	0	CTNND1	11	57582920	Frame_Shift_Del	DEL	G	TCGA-2J-AABK-01A-31D-A40W-08	50929502	57582920	77423596	50	1058											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0	rs559230605	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84	93	90					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	20	170	0	0	0	1	0	20	170					G	61161357	T	G	61161357	5	3	10	1	0	0	0	0	0	0	1	0	16191	1710	59	4	148	4	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	3578437	61161357	73845159	51	1059											
AHNAK	79026	broad.mit.edu	37	chr11	62293318	62293318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctccctctaccttaggGcctgtaacatccacatctcc	5	16	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62293318G>A	ENST00000378024.4	-	5	8845	c.8571C>T	c.(8569-8571)ggC>ggT	p.G2857G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2857					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACCTTAGGGCCTGTAACAT	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8569-8571)ggC>ggT		AHNAK nucleoprotein							166	168	167					11																	62293318		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293318G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8571C>T	11.37:g.62293318G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G2857G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8845	-		Melanoma(852;0.155)	2857					A1A586	Silent	SNP	ENST00000378024.4	37	c.8571C>T	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	726	0	0	0	1	0	31	726					A	62293318	G	A	62293318	2	1	10	1	0	0	0	0	0	0	0	1	414	1190	42	2		2	AHNAK	11	62293318	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1131961	62293318	72713198	52	1060											
AHNAK	79026	broad.mit.edu	37	chr11	62296207	62296207	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacactccagctcaacatcAggcacctccacacccacact	5	19	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62296207A>T	ENST00000378024.4	-	5	5956	c.5682T>A	c.(5680-5682)ccT>ccA	p.P1894P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1894					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTCAACATCAGGCACCTCCA	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5680-5682)ccT>ccA		AHNAK nucleoprotein							143	157	152					11																	62296207		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296207A>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5682T>A	11.37:g.62296207A>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P1894P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5956	-		Melanoma(852;0.155)	1894					A1A586	Silent	SNP	ENST00000378024.4	37	c.5682T>A	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		33	820	0	0	0	1	0	33	820					T	62296207	A	T	62296207	2	4	10	1	0	0	0	0	0	0	0	1	414	175	7	5		5	AHNAK	11	62296207	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	2889	62296207	72710309	53	1061											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276876	71276876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgtgggggctccaaAgggggctgtggttcctgtgg	19	8	1	0	rs12788123		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.K81K(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(241-243)aaA>aaG		keratin associated protein 5-10							51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276876A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G						KRTAP5-10_ENST00000376536.4_Intron	p.K81K	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	268	+			81			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.243A>G	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			19	457	0	0	0	1	0	19	457					G	71276876	A	G	71276876	2	3	10	1	0	0	0	0	0	0	0	1	8590	69	3	4		4	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	8980669	71276876	63729640	54	1062											
KDM5A	5927	broad.mit.edu	37	chr12	498206	498206	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggctcaaagacggggcactCtggcggtggcacgaactccg	15	13	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:498206C>G	ENST00000399788.2	-	1	414	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.E18Q|CCDC77_ENST00000422000.1_5'Flank|CCDC77_ENST00000540180.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	18					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGGGGCACTCTGGCGGTGGC	0.677			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(52-54)Gag>Cag		lysine (K)-specific demethylase 5A							24	26	26					12																	498206		1849	4087	5936	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:498206C>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.52G>C	12.37:g.498206C>G	ENSP00000382688:p.Glu18Gln					KDM5A_ENST00000382815.4_Missense_Mutation_p.E18Q	p.E18Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			1	414	-			18					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.52G>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014012	0.75161	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760;ENST00000535014;ENST00000543507	D;D;D;T;D	0.87334	-2.24;-2.05;-1.67;-1.33;-1.86	5.42	4.53	0.55603	Transcription factor jumonji, JmjN (1);	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.80847	2.515	0.53688	D	0.999971	B;B;B;B	0.33612	0.084;0.221;0.295;0.419	B;B;B;B	0.41036	0.034;0.244;0.188;0.346	D	0.89846	0.4006	10	0.87932	D	0	-16.9434	14.0654	0.64826	0.0:0.9272:0.0:0.0728	.	18;18;18;18	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	Q	18	ENSP00000382688:E18Q;ENSP00000372265:E18Q;ENSP00000440622:E18Q;ENSP00000443854:E18Q;ENSP00000444251:E18Q	ENSP00000261253:E18Q	E	-	1	0	KDM5A	368467	1.000000	0.71417	0.862000	0.33874	0.120000	0.20174	7.364000	0.79526	1.288000	0.44600	0.491000	0.48974	GAG		0.677	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		16	177	0	0	0	1	0	16	177					G	498206	C	G	498206	3	3	10	1	0	0	0	0	1	0	0	0	8163	922	32	5	5132	5	KDM5A	12	498206	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		498206	133353689	55	1063											
CD163L1	283316	broad.mit.edu	37	chr12	7548911	7548911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctttactgttccagccGtcatcacacactgtgcccca	7	16	2	0	rs140225151	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:7548911G>A	ENST00000313599.3	-	8	1887	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	CD163L1_ENST00000416109.2_Silent_p.D620D|CD163L1_ENST00000396630.1_Silent_p.D610D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	610	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCCAGCCGTCATCACACA	0.567																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1828-1830)gaC>gaT		CD163 molecule-like 1		G		2,4404	4.2+/-10.8	0,2,2201	114	86	96		1830	-4.5	0	12	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		610/1454	7548911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7548911G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1830C>T	12.37:g.7548911G>A						CD163L1_ENST00000396630.1_Silent_p.D610D|CD163L1_ENST00000416109.2_Silent_p.D620D	p.D610D			Q9NR16	C163B_HUMAN			8	1887	-			610			SRCR 6.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1830C>T	CCDS8577.1																																																																																				0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		13	142	0	0	0	1	0	13	142					A	7548911	G	A	7548911	2	1	10	1	0	0	0	0	0	0	0	1	2977	1136	40	1		1	CD163L1	12	7548911	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	7050705	7548911	126302984	56	1064											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	168	1	0	3.41278e-10	1	3.57926e-10	15	168					A	25398284	C	A	25398284	3	1	10	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	17849373	25398284	108453611	57	1065											
KIF21A	55605	broad.mit.edu	37	chr12	39752115	39752115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattggcgtatttcagggtGtttaacgtttccataaagtc	10	7	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:39752115G>A	ENST00000361418.5	-	8	1095	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	KIF21A_ENST00000541463.2_Silent_p.N360N|KIF21A_ENST00000395670.3_Silent_p.N360N|KIF21A_ENST00000544797.2_Silent_p.N360N|KIF21A_ENST00000361961.3_Silent_p.N360N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	360	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTTCAGGGTGTTTAACGTTT	0.388																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1078-1080)aaC>aaT		kinesin family member 21A							306	271	283					12																	39752115		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39752115G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1080C>T	12.37:g.39752115G>A						KIF21A_ENST00000544797.2_Silent_p.N360N|KIF21A_ENST00000541463.2_Silent_p.N360N|KIF21A_ENST00000361961.3_Silent_p.N360N|KIF21A_ENST00000361418.5_Silent_p.N360N	p.N360N			Q7Z4S6	KI21A_HUMAN			8	1499	-		Lung NSC(34;0.179)|all_lung(34;0.213)	360					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1080C>T	CCDS53776.1																																																																																				0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	724	0	0	0	1	0	10	724					A	39752115	G	A	39752115	2	1	10	1	0	0	0	0	0	0	0	1	8318	1368	48	2		2	KIF21A	12	39752115	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14353831	39752115	94099780	58	1066											
TUBA1C	84790	broad.mit.edu	37	chr12	49666572	49666572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaaccagatggtgaaAtgtgaccctcgccatggtaa	10	12	0	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:49666572A>G	ENST00000301072.6	+	4	1187	c.912A>G	c.(910-912)aaA>aaG	p.K304K	TUBA1C_ENST00000541364.1_Silent_p.K374K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	304					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGATGGTGAAATGTGACCCTC	0.498																																						ENST00000301072.6																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						c.(910-912)aaA>aaG		tubulin, alpha 1c							76	82	80					12																	49666572		2203	4298	6501	SO:0001819	synonymous_variant	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666572A>G	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.912A>G	12.37:g.49666572A>G						TUBA1C_ENST00000541364.1_Silent_p.K374K|RP11-161H23.5_ENST00000550468.2_RNA	p.K304K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN			4	1187	+			304						Silent	SNP	ENST00000301072.6	37	c.912A>G	CCDS8782.1																																																																																				0.498	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		44	391	0	0	0	1	0	44	391					G	49666572	A	G	49666572	2	3	10	1	0	0	0	0	0	0	0	1	16799	98	4	4		4	TUBA1C	12	49666572	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	9914457	49666572	84185323	59	1067											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	817						7	817	---	---	---	---	-	55615116	CTT	-	55615114	7	5	10	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-2J-AABK-01A-31D-A40W-08	5948542	55615114	78236781	60	1068											
ESYT1	23344	broad.mit.edu	37	chr12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctacatggcgttttgCgggtgatactggagccactc	12	11	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192	199	197					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		9	1007	0	0	0	1	0	9	1007					T	56525276	C	T	56525276	3	4	10	1	0	0	0	0	1	0	0	0	5282	759	27	1	752	1	ESYT1	12	56525276	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	910162	56525276	77326619	61	1069											
SDR9C7	121214	broad.mit.edu	37	chr12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctcccaaagctttcGcatgcgtgactccaggttct	8	15	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(658-660)Cga>Tga		short chain dehydrogenase/reductase family 9C, member 7							116	102	107					12																	57323240		2203	4300	6503	SO:0001587	stop_gained	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323240G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.658C>T	12.37:g.57323240G>A	ENSP00000293502:p.Arg220*						p.R220*	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			3	801	-			220					B3KVB4	Nonsense_Mutation	SNP	ENST00000293502.1	37	c.658C>T	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232819	0.95207	.	.	ENSG00000170426	ENST00000293502	.	.	.	5.45	3.51	0.40186	.	0.624103	0.14118	N	0.340258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	8.5096	0.33208	0.0:0.2657:0.4449:0.2895	.	.	.	.	X	220	.	ENSP00000293502:R220X	R	-	1	2	SDR9C7	55609507	0.000000	0.05858	0.165000	0.22776	0.353000	0.29299	-0.435000	0.06931	0.706000	0.31912	0.650000	0.86243	CGA		0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		48	439	0	0	0	1	0	48	439					A	57323240	G	A	57323240	4	1	10	1	0	0	0	0	0	1	0	0	14024	1095	38	1	291	1	SDR9C7	12	57323240	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	797964	57323240	76528655	62	1070											
C12orf66	144577	broad.mit.edu	37	chr12	64588215	64588215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaggtgtggaggctgcaCggccttctgagactgccctc	14	11	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:64588215C>T	ENST00000398055.3	-	3	798	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	C12orf66_ENST00000311915.8_Missense_Mutation_p.V249M|C12orf66_ENST00000544871.1_Missense_Mutation_p.V196M	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	249										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGAGGCTGCACGGCCTTCTGA	0.493																																						ENST00000311915.8																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(745-747)Gtg>Atg		chromosome 12 open reading frame 66							87	85	86					12																	64588215		1969	4133	6102	SO:0001583	missense	144577							g.chr12:64588215C>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.745G>A	12.37:g.64588215C>T	ENSP00000381132:p.Val249Met					C12orf66_ENST00000398055.3_Missense_Mutation_p.V249M|C12orf66_ENST00000544871.1_Missense_Mutation_p.V196M	p.V249M			Q96MD2	CL066_HUMAN			3	772	-			249					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.745G>A	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247672	0.39697	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.40756	1.02;1.02;1.02	5.94	5.05	0.67936	.	0.117224	0.64402	D	0.000011	T	0.48484	0.1502	L	0.41236	1.265	0.53688	D	0.999976	D;D	0.65815	0.99;0.995	P;P	0.55260	0.747;0.772	T	0.40887	-0.9539	9	.	.	.	-14.3474	15.4147	0.74956	0.0:0.9333:0.0:0.0667	.	196;249	F5H2Q3;Q96MD2	.;CL066_HUMAN	M	249;196;249	ENSP00000311486:V249M;ENSP00000445481:V196M;ENSP00000381132:V249M	.	V	-	1	0	C12orf66	62874482	0.998000	0.40836	0.716000	0.30569	0.987000	0.75469	5.846000	0.69444	1.523000	0.49018	0.561000	0.74099	GTG		0.493	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		28	273	0	0	0	1	0	28	273					T	64588215	C	T	64588215	3	4	10	1	0	0	0	0	1	0	0	0	1714	536	19	1	596	1	C12orf66	12	64588215	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	7264975	64588215	69263680	63	1071											
WSCD2	9671	broad.mit.edu	37	chr12	108604027	108604027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcagcgtgtgcggcggCgccaaccgcctctctgtcta	14	15	2	0	rs569832300		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:108604027C>T	ENST00000332082.4	+	5	1445	c.627C>T	c.(625-627)ggC>ggT	p.G209G	WSCD2_ENST00000549903.1_Silent_p.G209G|WSCD2_ENST00000547525.1_Silent_p.G209G|WSCD2_ENST00000261400.3_Silent_p.G209G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	209	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGTGCGGCGGCGCCAACCGCC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15029	0.0		0.0	False		,,,				2504	0.0					ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(625-627)ggC>ggT		WSC domain containing 2							11	17	15					12																	108604027		2179	4265	6444	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108604027C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.627C>T	12.37:g.108604027C>T						WSCD2_ENST00000549903.1_Silent_p.G209G|WSCD2_ENST00000547525.1_Silent_p.G209G|WSCD2_ENST00000261400.3_Silent_p.G209G	p.G209G			Q2TBF2	WSCD2_HUMAN			5	1445	+			209			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.627C>T	CCDS41828.1																																																																																				0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	57	0	0	0	1	0	4	57					T	108604027	C	T	108604027	2	4	10	1	0	0	0	0	0	0	0	1	17461	755	27	1		1	WSCD2	12	108604027	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	44015812	108604027	25247868	64	1072											
SPATA13	221178	broad.mit.edu	37	chr13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtctgatcaacgagcGcaagcgcaagctggagagca	14	11	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:24868942G>A	ENST00000382095.4	+	9	1678	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000424834.2_Missense_Mutation_p.R1049H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R424H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498																																						ENST00000424834.2																			1	Substitution - Missense(1)	p.R424H(1)	large_intestine(1)	breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3145-3147)cGc>cAc		spermatogenesis associated 13							136	111	120					13																	24868942		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24868942G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1271G>A	13.37:g.24868942G>A	ENSP00000371527:p.Arg424His					SPATA13_ENST00000382095.4_Missense_Mutation_p.R424H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H	p.R1049H			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	12	3619	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	424					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.3146G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372786	0.95923	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.42	5.42	0.78866	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.89287	3.02	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	0.91635	0.999;0.996;0.999;0.998;0.998;0.991	D	0.87457	0.2405	10	0.66056	D	0.02	.	18.1945	0.89817	0.0:0.0:1.0:0.0	.	284;368;308;370;346;424	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	H	1049;424;322;370;346;284;368	ENSP00000371542:R1049H;ENSP00000371527:R424H;ENSP00000401605:R322H;ENSP00000382830:R346H;ENSP00000386471:R284H;ENSP00000343631:R368H	ENSP00000343631:R368H	R	+	2	0	SPATA13	23766942	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.591000	0.82666	2.558000	0.86282	0.561000	0.74099	CGC		0.498	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		6	245	0	0	0	1	0	6	245					A	24868942	G	A	24868942	3	1	10	1	0	0	0	0	1	0	0	0	15052	1087	38	1	3180	1	SPATA13	13	24868942	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		24868942	90300936	65	1073											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	7	293						7	293	---	---	---	---	-	27250863	GT	-	27250862	8	5	10	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-2J-AABK-01A-31D-A40W-08	2381920	27250862	87919016	66	1074											
SOHLH2	54937	broad.mit.edu	37	chr13	36767849	36767849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaatatccattccatgCcctgaaatacaacctaagaa	4	11	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:36767849C>T	ENST00000379881.3	-	4	427	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SOHLH2_ENST00000317764.6_Silent_p.G113G|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G190G|SOHLH2_ENST00000554962.1_Silent_p.G190G	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	113					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCATTCCATGCCCTGAAATAC	0.308																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(337-339)ggG>ggA		spermatogenesis and oogenesis specific basic helix-loop-helix 2							81	85	84					13																	36767849		2202	4297	6499	SO:0001819	synonymous_variant	54937							g.chr13:36767849C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.339G>A	13.37:g.36767849C>T						SOHLH2_ENST00000317764.6_Silent_p.G113G|SOHLH2_ENST00000554962.1_Silent_p.G190G|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G190G	p.G113G	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	4	427	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.339G>A	CCDS9355.1																																																																																				0.308	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		17	562	0	0	0	1	0	17	562					T	36767849	C	T	36767849	2	4	10	1	0	0	0	0	0	0	0	1	14974	726	26	2		2	SOHLH2	13	36767849	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	9516987	36767849	78402029	67	1075											
G2E3	55632	broad.mit.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A													tagagttaggattccaaattINSaaaaaaaaaactaaaagatt							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000544007.1_Intron	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		8	141						8	141	---	---	---	---	A	31074772	-	A	31074771	7	5	10	1	0	1	1	0	0	0	0	0	6167	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-2J-AABK-01A-31D-A40W-08		31074771	76274769	68	1076											
EIF2B2	8892	broad.mit.edu	37	chr14	75469848	75469848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacggaccaccgctggaGcaacgcgggtgaggccggcc	15	15	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:75469848G>A	ENST00000266126.5	+	1	235	c.155G>A	c.(154-156)aGc>aAc	p.S52N	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	52				S -> R (in Ref. 2; AAC42002). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CACCGCTGGAGCAACGCGGGT	0.672																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(154-156)aGc>aAc		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							20	23	22					14																	75469848		2203	4298	6501	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75469848G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.155G>A	14.37:g.75469848G>A	ENSP00000266126:p.Ser52Asn						p.S52N	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	1	235	+			52	S -> R (in Ref. 2; AAC42002).				O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.155G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957275	0.34565	.	.	ENSG00000119718	ENST00000266126	D	0.92545	-3.06	5.73	4.83	0.62350	.	0.163209	0.64402	N	0.000002	T	0.79747	0.4499	N	0.04686	-0.185	0.38742	D	0.953916	B	0.02656	0.0	B	0.10450	0.005	T	0.73538	-0.3951	10	0.06099	T	0.92	-15.1504	11.3171	0.49399	0.1477:0.0:0.8523:0.0	.	52	P49770	EI2BB_HUMAN	N	52	ENSP00000266126:S52N	ENSP00000266126:S52N	S	+	2	0	EIF2B2	74539601	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.131000	0.42074	1.535000	0.49220	0.555000	0.69702	AGC		0.672	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		11	167	0	0	0	1	0	11	167					A	75469848	G	A	75469848	3	1	10	1	0	0	0	0	1	0	0	0	5017	971	34	2	157	2	EIF2B2	14	75469848	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	44395077	75469848	31879692	69	1077											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	153						7	153	---	---	---	---	-	93397926	GAG	-	93397924	7	5	10	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-2J-AABK-01A-31D-A40W-08	17928076	93397924	13951616	70	1078											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391518	102391518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgtcctcttgcacgccGcaagtccgagctgcctcagg	12	16	2	0	rs147942579	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:102391518G>A	ENST00000334743.5	+	14	1532	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R526H	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	495					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTGCACGCCGCAAGTCCGAG	0.572																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1576-1578)cGc>cAc		protein phosphatase 2, regulatory subunit B', gamma							123	133	130					14																	102391518		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391518G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1484G>A	14.37:g.102391518G>A	ENSP00000333905:p.Arg495His					PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H	p.R526H	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1673	+			495					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1577G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306513	0.95629	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.57436	0.41;0.5;0.41;0.46;0.4	6.17	5.28	0.74379	.	0.045716	0.85682	D	0.000000	T	0.75361	0.3839	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.987;0.987;0.978	T	0.79727	-0.1682	10	0.59425	D	0.04	-5.113	15.7894	0.78343	0.065:0.0:0.935:0.0	.	526;456;495;511	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	H	526;511;524;456;495	ENSP00000412324:R526H;ENSP00000329009:R511H;ENSP00000450931:R524H;ENSP00000262239:R456H;ENSP00000333905:R495H	ENSP00000329009:R511H	R	+	2	0	PPP2R5C	101461271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.891000	0.92485	1.626000	0.50381	0.655000	0.94253	CGC		0.572	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		7	790	0	0	0	1	0	7	790					A	102391518	G	A	102391518	3	1	10	1	0	0	0	0	1	0	0	0	12441	1087	38	1	1931	1	PPP2R5C	14	102391518	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	8993594	102391518	4958022	71	1079											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		9	640						9	640	---	---	---	---	-	31196894	A	-	31196894	7	5	10	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-2J-AABK-01A-31D-A40W-08		31196894	71334498	72	1080											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	810						7	810	---	---	---	---	-	34393993	AGC	-	34393991	7	5	10	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AABK-01A-31D-A40W-08	3197097	34393991	68137401	73	1081											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		9	274						9	274	---	---	---	---	-	40328599	TGC	-	40328597	7	5	10	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-2J-AABK-01A-31D-A40W-08	5934606	40328597	62202795	74	1082											
VPS13C	54832	broad.mit.edu	37	chr15	62172889	62172889	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctccattaattctgcattTagagcatcaatatcttgttg	6	8	4	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:62172889T>A	ENST00000261517.5	-	73	9994	c.9921A>T	c.(9919-9921)ctA>ctT	p.L3307L	VPS13C_ENST00000249837.3_Silent_p.L3264L|VPS13C_ENST00000395896.4_Silent_p.L3307L|VPS13C_ENST00000395898.3_Silent_p.L3264L|VPS13C_ENST00000558919.1_5'UTR	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTCTGCATTTAGAGCATCAA	0.269																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9919-9921)ctA>ctT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							45	46	46					15																	62172889		2200	4288	6488	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62172889T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9921A>T	15.37:g.62172889T>A						VPS13C_ENST00000395898.3_Silent_p.L3264L|VPS13C_ENST00000395896.4_Silent_p.L3307L|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Silent_p.L3264L	p.L3307L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			73	9994	-			3307						Silent	SNP	ENST00000261517.5	37	c.9921A>T	CCDS32257.1																																																																																				0.269	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	127	0	0	0	1	0	13	127					A	62172889	T	A	62172889	2	1	10	1	0	0	0	0	0	0	0	1	17245	1741	61	5		5	VPS13C	15	62172889	Silent	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	21844292	62172889	40358503	75	1083											
CPLX3	594855	broad.mit.edu	37	chr15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-													agatgatcgaggaggacacaGaggaggaggaggagaaggcc							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)gagdel	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118					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)			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(340-342)del		complexin 3				22,4242		10,2,2120						-5.3	1			72	52,8202		23,6,4098	no	coding	CPLX3	NM_001030005.2		33,8,6218	A1A1,A1R,RR		0.63,0.5159,0.5911				74,12444				SO:0001651	inframe_deletion	594855					cell junction|synapse	syntaxin binding	g.chr15:75122558_75122560delGAG	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.340_342delGAG	15.37:g.75122567_75122569delGAG	ENSP00000378464:p.Glu118del					RP11-414J4.2_ENST00000564823.1_RNA	p.E118del	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	497_499	+			118					D3DW66|Q8TEM6|Q9H818	In_Frame_Del	DEL	ENST00000395018.4	37	c.340_342delGAG	CCDS32294.1																																																																																				0.616	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		7	297						7	297	---	---	---	---	-	75122560	GAG	-	75122558	7	5	10	1	0	1	0	1	0	0	0	0	3815	943	33	0	350	0	CPLX3	15	75122558	In_Frame_Del	DEL	GAG	TCGA-2J-AABK-01A-31D-A40W-08	12949669	75122558	27408834	76	1084											
CSPG4	1464	broad.mit.edu	37	chr15	75974724	75974724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccccgcaccacacgGtagagcaggagctgggggtc	18	12	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:75974724G>A	ENST00000308508.5	-	8	4952	c.4860C>T	c.(4858-4860)taC>taT	p.Y1620Y		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1620	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCACCACACGGTAGAGCAGGA	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4858-4860)taC>taT		chondroitin sulfate proteoglycan 4							39	43	41					15																	75974724		2197	4293	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974724G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4860C>T	15.37:g.75974724G>A							p.Y1620Y	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			8	4952	-			1620			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4860C>T	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	251	0	0	0	1	0	5	251					A	75974724	G	A	75974724	2	1	10	1	0	0	0	0	0	0	0	1	3971	1256	44	2		2	CSPG4	15	75974724	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	852166	75974724	26556668	77	1085											
IQGAP1	8826	broad.mit.edu	37	chr15	91017344	91017344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattcgggcaaacaaagctCgggatgactacaagactctc	9	10	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:91017344C>T	ENST00000268182.5	+	22	2678	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R280W	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	852	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACAAAGCTCGGGATGACTA	0.423																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2554-2556)Cgg>Tgg		IQ motif containing GTPase activating protein 1							57	56	56					15																	91017344		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91017344C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2554C>T	15.37:g.91017344C>T	ENSP00000268182:p.Arg852Trp					IQGAP1_ENST00000560738.1_Missense_Mutation_p.R280W	p.R852W	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		22	2678	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		852			IQ 4.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2554C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195221	0.78902	.	.	ENSG00000140575	ENST00000268182	T	0.03496	3.91	5.49	4.57	0.56435	.	0.063360	0.64402	D	0.000007	T	0.22551	0.0544	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04229	-1.0967	10	0.72032	D	0.01	-10.2579	13.4279	0.61037	0.0:0.9247:0.0:0.0752	.	852	P46940	IQGA1_HUMAN	W	852	ENSP00000268182:R852W	ENSP00000268182:R852W	R	+	1	2	IQGAP1	88818348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.453000	0.47775	0.655000	0.94253	CGG		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		20	176	0	0	0	1	0	20	176					T	91017344	C	T	91017344	3	4	10	1	0	0	0	0	1	0	0	0	7844	875	31	1	2640	1	IQGAP1	15	91017344	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	15042620	91017344	11514048	78	1086											
TPSD1	23430	broad.mit.edu	37	chr16	1306801	1306801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctccgctgcccagggaCatcaaggatctggccgccct	11	16	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:1306801C>T	ENST00000211076.3	+	3	406	c.258C>T	c.(256-258)gaC>gaT	p.D86D	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.D79D	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCCCAGGGACATCAAGGATC	0.682																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(256-258)gaC>gaT		tryptase delta 1							37	43	41					16																	1306801		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306801C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.258C>T	16.37:g.1306801C>T						TPSD1_ENST00000397534.2_Silent_p.D79D	p.D86D	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			3	406	+		Hepatocellular(780;0.00369)	86			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.258C>T	CCDS10432.1																																																																																				0.682	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			6	151	0	0	0	1	0	6	151					T	1306801	C	T	1306801	2	4	10	1	0	0	0	0	0	0	0	1	16478	477	17	2		2	TPSD1	16	1306801	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		1306801	89047952	79	1087											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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)			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						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				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						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		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.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		13	1222						13	1222	---	---	---	---	-	20370702	CCA	-	20370700	7	5	10	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-2J-AABK-01A-31D-A40W-08	19063899	20370700	69984053	80	1088											
PRSS36	146547	broad.mit.edu	37	chr16	31161352	31161352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaggagcaggtgccggGccatggcgctagagtcagcg	21	9	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:31161352G>A	ENST00000268281.4	-	1	63	c.5C>T	c.(4-6)gCc>gTc	p.A2V	PRSS36_ENST00000569305.1_Missense_Mutation_p.A2V|PRSS36_ENST00000418068.2_Missense_Mutation_p.A2V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	2						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGTGCCGGGCCATGGCGCT	0.652																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(4-6)gCc>gTc		protease, serine, 36							87	90	89					16																	31161352		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31161352G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.5C>T	16.37:g.31161352G>A	ENSP00000268281:p.Ala2Val					PRSS36_ENST00000569305.1_Missense_Mutation_p.A2V|PRSS36_ENST00000418068.2_Missense_Mutation_p.A2V	p.A2V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			1	63	-			2					A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.5C>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318445	0.23994	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89485	-2.52;-2.5	4.97	3.95	0.45737	.	.	.	.	.	T	0.77322	0.4113	N	0.08118	0	0.21355	N	0.999715	B;B;B	0.19817	0.039;0.039;0.039	B;B;B	0.17433	0.011;0.011;0.018	T	0.67181	-0.5735	9	0.51188	T	0.08	.	8.5374	0.33371	0.1204:0.0:0.8796:0.0	.	2;2;2	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	V	2	ENSP00000268281:A2V;ENSP00000407160:A2V	ENSP00000268281:A2V	A	-	2	0	PRSS36	31068853	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	1.152000	0.31663	1.093000	0.41377	0.557000	0.71058	GCC		0.652	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		6	527	0	0	0	1	0	6	527					A	31161352	G	A	31161352	3	1	10	1	0	0	0	0	1	0	0	0	12672	1203	42	2	2622	2	PRSS36	16	31161352	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	10790652	31161352	59193401	81	1089											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		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.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	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.chr16:51175656_51175658delGCT	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.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		11	210						11	210	---	---	---	---	-	51175658	GCT	-	51175656	7	5	10	1	0	1	0	1	0	0	0	0	13860	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-2J-AABK-01A-31D-A40W-08	20014304	51175656	39179097	82	1090											
CDH13	1012	broad.mit.edu	37	chr16	83704515	83704515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatcaacggaaaccccGggcagagctttgaaatccac	8	14	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:83704515G>A	ENST00000566620.1	+	9	1512	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	CDH13_ENST00000268613.10_Missense_Mutation_p.G455R|CDH13_ENST00000428848.3_Missense_Mutation_p.G369R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGAAACCCCGGGCAGAGCTT	0.498																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1222-1224)Ggg>Agg		cadherin 13							138	135	136					16																	83704515		1939	4147	6086	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704515G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1222G>A	16.37:g.83704515G>A	ENSP00000454435:p.Gly408Arg					CDH13_ENST00000428848.3_Missense_Mutation_p.G369R|CDH13_ENST00000268613.10_Missense_Mutation_p.G455R	p.G408R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1512	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	408			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1222G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701232	0.68501	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.53423	0.62	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54046	0.1834	L	0.29908	0.895	0.80722	D	1	D;P;D	0.76494	0.991;0.676;0.999	P;B;P	0.58970	0.739;0.283;0.849	T	0.44952	-0.9294	9	0.30854	T	0.27	.	18.9266	0.92548	0.0:0.0:1.0:0.0	.	369;455;408	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	R	455;408;369;110;98	ENSP00000268613:G455R	ENSP00000268613:G455R	G	+	1	0	CDH13	82262016	1.000000	0.71417	0.954000	0.39281	0.452000	0.32318	5.494000	0.66905	2.717000	0.92951	0.585000	0.79938	GGG		0.498	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		57	513	0	0	0	1	0	57	513					A	83704515	G	A	83704515	3	1	10	1	0	0	0	0	1	0	0	0	3108	1116	39	1	1256	1	CDH13	16	83704515	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	32528859	83704515	6650238	83	1091											
LRRC50	123872	broad.mit.edu	37	chr16	84211348	84211348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagtgccgactgagagCgccgccacacccccagagac	10	18	0	2	rs145469545		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:84211348C>T	ENST00000378553.5	+	12	2203	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	693					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGACTGAGAGCGCCGCCACAC	0.617																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(2077-2079)agC>agT		dynein, axonemal, assembly factor 1		C		0,4400		0,0,2200	96	92	93		2079	-0.2	0	16	dbSNP_134	93	1,8599		0,1,4299	no	coding-synonymous	DNAAF1	NM_178452.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		693/726	84211348	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84211348C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2079C>T	16.37:g.84211348C>T						DNAAF1_ENST00000563818.1_3'UTR	p.S693S	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			12	2203	+			693					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.2079C>T	CCDS10943.2																																																																																				0.617	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		18	497	0	0	0	1	0	18	497					T	84211348	C	T	84211348	2	4	10	1	0	0	0	0	0	0	0	1	9047	767	27	1		1	LRRC50	16	84211348	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	506833	84211348	6143405	84	1092											
TP53	7157	broad.mit.edu	37	chr17	7577123	7577123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacaggcacaaacacgcAcctcaaagctgttccgtccc	8	16	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:7577123A>G	ENST00000269305.4	-	8	1004	c.815T>C	c.(814-816)gTg>gCg	p.V272A	TP53_ENST00000420246.2_Missense_Mutation_p.V272A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272A|TP53_ENST00000359597.4_Missense_Mutation_p.V272A|TP53_ENST00000445888.2_Missense_Mutation_p.V272A|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	ACAAACACGCACCTCAAAGCT	0.532		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)	ENST00000420246.2		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"		39	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Unknown(2)	p.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|lung(4)|bone(4)|stomach(3)|central_nervous_system(3)|breast(3)|skin(3)|endometrium(2)|large_intestine(1)|soft_tissue(1)|liver(1)|urinary_tract(1)|ovary(1)|pancreas(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	GRCh37	CM942122	TP53	M		c.(814-816)gTg>gCg	Other conserved DNA damage response genes	tumor protein p53							63	55	57					17																	7577123		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577123A>G	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.815T>C	17.37:g.7577123A>G	ENSP00000269305:p.Val272Ala	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_ENST00000269305.4_Missense_Mutation_p.V272A|TP53_ENST00000455263.2_Missense_Mutation_p.V272A|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272A|TP53_ENST00000359597.4_Missense_Mutation_p.V272A	p.V272A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	947	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.815T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797806	0.50208	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.13	2.87	0.33458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99622	0.9862	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.992	D;D;D;D	0.83275	0.996;0.996;0.996;0.99	D	0.99204	1.0874	10	0.28530	T	0.3	-27.8222	6.511	0.22222	0.7602:0.1564:0.0833:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	272;272;272;272;272;261;140	ENSP00000352610:V272A;ENSP00000269305:V272A;ENSP00000398846:V272A;ENSP00000391127:V272A;ENSP00000391478:V272A;ENSP00000425104:V140A	ENSP00000269305:V272A	V	-	2	0	TP53	7517848	0.032000	0.19561	0.353000	0.25747	0.798000	0.45092	0.523000	0.22925	0.396000	0.25283	0.379000	0.24179	GTG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	101	0	0	0	1	0	15	101					G	7577123	A	G	7577123	3	3	10	1	0	0	0	0	1	0	0	0	16434	159	6	4	471	4	TP53	17	7577123	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08		7577123	73618087	85	1093											
MYH4	4622	broad.mit.edu	37	chr17	10366281	10366281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttggtggtgatcagaagCatttctgaacacatggaaaa	13	5	2	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:10366281C>A	ENST00000255381.2	-	11	1019	c.909G>T	c.(907-909)atG>atT	p.M303I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	303	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGAAGCATTTCTGAAC	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(907-909)atG>atT		myosin, heavy chain 4, skeletal muscle							118	113	115					17																	10366281		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366281C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.909G>T	17.37:g.10366281C>A	ENSP00000255381:p.Met303Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.M303I	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			11	1019	-			303			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.909G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332814	0.60853	.	.	ENSG00000141048	ENST00000255381	D	0.87103	-2.21	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.000000	0.45361	U	0.000374	D	0.89361	0.6693	M	0.84683	2.71	0.53688	D	0.999972	B	0.02656	0.0	B	0.09377	0.004	D	0.86226	0.1634	10	0.52906	T	0.07	.	19.4872	0.95033	0.0:1.0:0.0:0.0	.	303	Q9Y623	MYH4_HUMAN	I	303	ENSP00000255381:M303I	ENSP00000255381:M303I	M	-	3	0	MYH4	10307006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.183000	0.50918	2.671000	0.90904	0.655000	0.94253	ATG		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		15	242	1	0	1.15088e-07	1	1.19248e-07	15	242					A	10366281	C	A	10366281	3	1	10	1	0	0	0	0	1	0	0	0	10078	710	25	3	5030	3	MYH4	17	10366281	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	2789158	10366281	70828929	86	1094											
RNF213	57674	broad.mit.edu	37	chr17	78337556	78337556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcacatgcaaggcagcGggagcctggcccaggctgtc	15	12	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:78337556G>A	ENST00000582970.1	+	41	11859	c.11716G>A	c.(11716-11718)Ggg>Agg	p.G3906R	RNF213_ENST00000508628.2_Missense_Mutation_p.G3955R|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G1979R|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3906					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAGGCAGCGGGAGCCTGGC	0.617																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11716-11718)Ggg>Agg		ring finger protein 213							46	35	39					17																	78337556		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78337556G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11716G>A	17.37:g.78337556G>A	ENSP00000464087:p.Gly3906Arg					RNF213_ENST00000508628.2_Missense_Mutation_p.G3955R|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G1979R	p.G3906R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		41	11859	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11716G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070011	0.55539	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	5.03	-0.504	0.11997	.	0.293863	0.37483	N	0.002079	T	0.45054	0.1323	M	0.77820	2.39	0.09310	N	1	P;D	0.89917	0.76;1.0	B;D	0.72625	0.147;0.978	T	0.32798	-0.9893	10	0.87932	D	0	.	9.053	0.36387	0.4393:0.0:0.5607:0.0	.	3955;1979	C9JCP4;Q63HN8	.;RN213_HUMAN	R	3906;3955;1979	ENSP00000338218:G1979R	ENSP00000338218:G1979R	G	+	1	0	RNF213	75952151	0.932000	0.31603	0.000000	0.03702	0.001000	0.01503	1.647000	0.37260	-0.314000	0.08716	-0.150000	0.13652	GGG		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	101	0	0	0	1	0	9	101					A	78337556	G	A	78337556	3	1	10	1	0	0	0	0	1	0	0	0	13527	1116	39	1	12193	1	RNF213	17	78337556	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	67971275	78337556	2857654	87	1095											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			12	727						12	727	---	---	---	---	-	55992286	TCC	-	55992284	7	5	10	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-2J-AABK-01A-31D-A40W-08		55992284	22084964	88	1096											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		9	156						9	156	---	---	---	---	-	1578374	CTC	-	1578372	7	5	10	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-2J-AABK-01A-31D-A40W-08		1578372	57550611	89	1097											
FAM129C	199786	broad.mit.edu	37	chr19	17653012	17653012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctaccgtgaggccgagcGgagccgggggcgcttggggc	20	11	0	1	rs149574830		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:17653012G>A	ENST00000335393.4	+	11	1469	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	FAM129C_ENST00000352727.3_Missense_Mutation_p.R444Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R444Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R390Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R170Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R444Q|FAM129C_ENST00000332386.5_Missense_Mutation_p.R444Q|FAM129C_ENST00000601861.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R413Q	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	444										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GAGGCCGAGCGGAGCCGGGGG	0.607																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1330-1332)cGg>cAg		family with sequence similarity 129, member C			GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	108	122	117		1331,1331	1.3	0	19	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FAM129C	NM_001098524.1,NM_173544.4	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	444/652,444/698	17653012	3,13003	2203	4300	6503	SO:0001583	missense	199786							g.chr19:17653012G>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1331G>A	19.37:g.17653012G>A	ENSP00000335040:p.Arg444Gln					FAM129C_ENST00000332386.5_Missense_Mutation_p.R444Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R390Q|FAM129C_ENST00000352727.3_Missense_Mutation_p.R444Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R444Q|FAM129C_ENST00000601861.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R170Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R444Q	p.R444Q	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			11	1469	+			444					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1331G>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	5.022	0.189829	0.09547	2.27E-4	2.33E-4	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.22945	2.27;2.29;1.98;1.99;1.93	4.77	1.28	0.21552	.	0.297213	0.23053	N	0.052468	T	0.10637	0.0260	L	0.28400	0.85	0.09310	N	1	P;P;P;P;B;P	0.39624	0.535;0.681;0.681;0.681;0.366;0.681	B;B;B;B;B;B	0.31016	0.049;0.123;0.071;0.071;0.05;0.071	T	0.16837	-1.0389	10	0.13108	T	0.6	-22.8782	3.1616	0.06522	0.2352:0.0:0.4981:0.2667	.	390;444;444;444;170;444	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.;.	Q	444;444;444;444;170;390	ENSP00000335040:R444Q;ENSP00000333447:R444Q;ENSP00000341067:R444Q;ENSP00000300971:R444Q;ENSP00000394929:R170Q	ENSP00000300971:R444Q	R	+	2	0	FAM129C	17514012	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.160000	0.16462	0.455000	0.26910	0.586000	0.80456	CGG		0.607	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		38	790	0	0	0	1	0	38	790					A	17653012	G	A	17653012	3	1	10	1	0	0	0	0	1	0	0	0	5459	1116	39	1	1373	1	FAM129C	19	17653012	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	16074640	17653012	41475971	90	1098											
PNMAL2	57469	broad.mit.edu	37	chr19	46998384	46998384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggcctgcgtgggcccGtcatccagcagcaggcgtct	14	16	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:46998384G>A	ENST00000377655.2	-	1	338	c.339C>T	c.(337-339)gaC>gaT	p.D113D	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.P165P|PNMAL2_ENST00000599531.1_Silent_p.D113D			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	113										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCGTGGGCCCGTCATCCAGCA	0.692																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(337-339)gaC>gaT		paraneoplastic Ma antigen family-like 2							75	81	79					19																	46998384		2203	4300	6503	SO:0001819	synonymous_variant	57469							g.chr19:46998384G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.339C>T	19.37:g.46998384G>A						AC011484.1_ENST00000377652.3_Silent_p.P165P|PNMAL2_ENST00000377655.2_Silent_p.D113D|PNMAL2_ENST00000594749.1_Intron	p.D113D	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1371	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	113					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.339C>T																																																																																					0.692	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		57	541	0	0	0	1	0	57	541					A	46998384	G	A	46998384	2	1	10	1	0	0	0	0	0	0	0	1	12200	1136	40	1		1	PNMAL2	19	46998384	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	29345372	46998384	12130599	91	1099											
CCDC114	93233	broad.mit.edu	37	chr19	48800579	48800579	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaagtgacgtggccaagaGagccacggtctctgctagtc	12	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:48800579G>A	ENST00000315396.7	-	14	2349	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	556					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTGGCCAAGAGAGCCACGGTC	0.642																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1666-1668)tCt>tTt		coiled-coil domain containing 114							51	53	52					19																	48800579		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800579G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1667C>T	19.37:g.48800579G>A	ENSP00000318429:p.Ser556Phe						p.S556F	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2349	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	556					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1667C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509077	0.44660	.	.	ENSG00000105479	ENST00000315396	T	0.32272	1.46	3.66	2.61	0.31194	.	.	.	.	.	T	0.24236	0.0587	L	0.32530	0.975	0.09310	N	1	P	0.41784	0.762	B	0.41135	0.348	T	0.09707	-1.0662	9	0.66056	D	0.02	-8.5304	7.6387	0.28282	0.127:0.0:0.873:0.0	.	556	Q96M63	CC114_HUMAN	F	556	ENSP00000318429:S556F	ENSP00000318429:S556F	S	-	2	0	CCDC114	53492391	0.320000	0.24616	0.023000	0.16930	0.007000	0.05969	3.696000	0.54757	0.820000	0.34516	0.555000	0.69702	TCT		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		18	219	0	0	0	1	0	18	219					A	48800579	G	A	48800579	3	1	10	1	0	0	0	0	1	0	0	0	2758	942	33	2	349	2	CCDC114	19	48800579	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1802195	48800579	10328404	92	1100											
ZNF845	91664	broad.mit.edu	37	chr19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccttcagtcagatGtcatcccttgtataccatcg	8	12	3	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:53855197G>A	ENST00000595091.1	+	5	1488	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1267-1269)atG>atA		zinc finger protein 845							45	41	42					19																	53855197		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855197G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1269G>A	19.37:g.53855197G>A	ENSP00000470005:p.Met423Ile					ZNF845_ENST00000595091.1_Missense_Mutation_p.M423I	p.M423I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1386	+			423						Missense_Mutation	SNP	ENST00000595091.1	37	c.1269G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.889779	0.02511	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.34275	1.37	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.05487	-0.04	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.08249	-1.0731	9	0.34782	T	0.22	.	2.3006	0.04161	0.1137:0.3445:0.3108:0.231	.	423	Q96IR2	ZN845_HUMAN	I	423	ENSP00000388311:M423I	ENSP00000412086:M423I	M	+	3	0	ZNF845	58547009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.502000	0.00035	-2.361000	0.00609	-0.718000	0.03613	ATG		0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	622	0	0	0	1	0	6	622					A	53855197	G	A	53855197	3	1	10	1	0	0	0	0	1	0	0	0	18244	1377	48	2	1279	2	ZNF845	19	53855197	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	5054618	53855197	5273786	93	1101											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	342						9	342	---	---	---	---	-	54675749	TCC	-	54675747	7	5	10	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AABK-01A-31D-A40W-08	820550	54675747	4453236	94	1102											
NLRP13	126204	broad.mit.edu	37	chr19	56424320	56424320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcaaaatcgggccaaTccaaagaaatcaattcagca	8	10	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56424320T>A	ENST00000342929.3	-	5	862	c.863A>T	c.(862-864)gAt>gTt	p.D288V	NLRP13_ENST00000588751.1_Missense_Mutation_p.D288V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	288	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)		ATCGGGCCAATCCAAAGAAAT	0.393																																						ENST00000588751.1																			0				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						c.(862-864)gAt>gTt		NLR family, pyrin domain containing 13							67	68	67					19																	56424320		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424320T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.863A>T	19.37:g.56424320T>A	ENSP00000343891:p.Asp288Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.D288V	p.D288V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	887	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	288			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.863A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852815	0.32699	.	.	ENSG00000173572	ENST00000342929	D	0.83506	-1.73	2.7	1.66	0.24008	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.85995	0.5827	M	0.67397	2.05	0.09310	N	0.999993	D	0.65815	0.995	D	0.63381	0.914	T	0.73591	-0.3934	9	0.66056	D	0.02	.	3.7405	0.08528	0.0:0.1879:0.0:0.8121	.	288	Q86W25	NAL13_HUMAN	V	288	ENSP00000343891:D288V	ENSP00000343891:D288V	D	-	2	0	NLRP13	61116132	0.039000	0.19947	0.129000	0.21949	0.006000	0.05464	0.488000	0.22371	1.211000	0.43351	0.482000	0.46254	GAT		0.393	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		31	319	0	0	0	1	0	31	319					A	56424320	T	A	56424320	3	1	10	1	0	0	0	0	1	0	0	0	10517	1435	50	5	2294	5	NLRP13	19	56424320	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	1748573	56424320	2704663	95	1103											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56702324	56702324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgggtcacctgttacGtcaatactcttgtgtagcag	11	8	3	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56702324G>A	ENST00000586855.2	-	4	934	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZSCAN5B_ENST00000358992.3_Silent_p.D207D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					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)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCTGTTACGTCAATACTCT	0.507																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(619-621)gaC>gaT		zinc finger and SCAN domain containing 5B							156	142	147					19																	56702324		2203	4300	6503	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56702324G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.621C>T	19.37:g.56702324G>A						ZSCAN5B_ENST00000358992.3_Silent_p.D207D	p.D207D			A6NJL1	ZSA5B_HUMAN			4	934	-			207						Silent	SNP	ENST00000586855.2	37	c.621C>T	CCDS46203.1																																																																																				0.507	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		36	452	0	0	0	1	0	36	452					A	56702324	G	A	56702324	2	1	10	1	0	0	0	0	0	0	0	1	18292	1136	40	1		1	ZSCAN5B	19	56702324	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	278004	56702324	2426659	96	1104											
ZNF552	79818	broad.mit.edu	37	chr19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-													agtgaagagatttgcctaaaTtttttttcacattcactgca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147	143	144			2	0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	624						7	624	---	---	---	---	-	58319468	T	-	58319468	7	5	10	1	0	1	0	1	0	0	0	0	18037	1490	52	0	63	0	ZNF552	19	58319468	Frame_Shift_Del	DEL	T	TCGA-2J-AABK-01A-31D-A40W-08	1617144	58319468	809515	97	1105											
TIAM1	7074	broad.mit.edu	37	chr21	32499427	32499427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcctcccttcagactcGgattttacatggacaatttc	7	13	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:32499427G>A	ENST00000286827.3	-	27	4560	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	TIAM1_ENST00000541036.1_Silent_p.S1303S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1363	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTCAGACTCGGATTTTACAT	0.453																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4087-4089)tcC>tcT		T-cell lymphoma invasion and metastasis 1							140	128	132					21																	32499427		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32499427G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4089C>T	21.37:g.32499427G>A						TIAM1_ENST00000541036.1_Silent_p.S1303S	p.S1363S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			27	4560	-			1363			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.4089C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	1.678	-0.507137	0.04231	.	.	ENSG00000156299	ENST00000423206	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.30262	0.0759	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46652	-0.9176	4	.	.	.	.	1.7358	0.02941	0.3065:0.0798:0.2498:0.3639	.	.	.	.	L	18	.	.	P	-	2	0	TIAM1	31421298	0.000000	0.05858	0.009000	0.14445	0.276000	0.26787	-4.277000	0.00261	-3.566000	0.00140	-1.869000	0.00555	CCG		0.453	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		27	258	0	0	0	1	0	27	258					A	32499427	G	A	32499427	2	1	10	1	0	0	0	0	0	0	0	1	15942	1103	39	1		1	TIAM1	21	32499427	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		32499427	15630468	98	1106											
DSCR4	10281	broad.mit.edu	37	chr21	39493319	39493319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggtaaatatccggggttCatcatctctcgtcaagatga	11	8	4	2	rs374848395		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:39493319C>T	ENST00000328264.3	-	1	135	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	DSCR4_ENST00000398948.1_Missense_Mutation_p.E11K|DSCR8_ENST00000400477.3_5'Flank|DSCR8_ENST00000357704.4_5'Flank	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	11										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						atccggggttcatcatctctc	0.498																																						ENST00000328264.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						c.(31-33)Gaa>Aaa		Down syndrome critical region gene 4		C		0,4406		0,0,2203	122	108	113			0.2	0.1	21		113	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			39493319	1,13005	2203	4300	6503	SO:0001583	missense	10281							g.chr21:39493319C>T	AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.31G>A	21.37:g.39493319C>T	ENSP00000328676:p.Glu11Lys					DSCR4_ENST00000398948.1_Missense_Mutation_p.E11K	p.E11K	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN			1	135	-			11					Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	c.31G>A	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025771	0.19512	0.0	1.16E-4	ENSG00000184029	ENST00000398948;ENST00000328264	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.40021	-0.9585	6	0.87932	D	0	.	.	.	.	.	11	P56555	DSCR4_HUMAN	K	11	.	ENSP00000328676:E11K	E	-	1	0	DSCR4	38415189	0.016000	0.18221	0.053000	0.19242	0.053000	0.15095	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAA		0.498	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		16	166	0	0	0	1	0	16	166					T	39493319	C	T	39493319	3	4	10	1	0	0	0	0	1	0	0	0	4788	835	29	2	337	2	DSCR4	21	39493319	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	6993892	39493319	8636576	99	1107											
UMODL1	89766	broad.mit.edu	37	chr21	43524046	43524046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgagaatgcagatcgtGtctctccaggcgggaagtgt	14	8	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:43524046G>A	ENST00000408910.2	+	9	1368	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	UMODL1_ENST00000408989.2_Silent_p.V456V|UMODL1_ENST00000400427.1_Silent_p.V384V|C21orf128_ENST00000329015.2_Missense_Mutation_p.H63Y|UMODL1_ENST00000400424.2_Silent_p.V384V	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	456	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAGATCGTGTCTCTCCAGG	0.597																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000329015.2																			0				lung(4)	4						c.(187-189)Cac>Tac		chromosome 21 open reading frame 128							214	177	190					21																	43524046		2203	4300	6503	SO:0001819	synonymous_variant	150147							g.chr21:43524046G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1368G>A	21.37:g.43524046G>A						UMODL1_ENST00000400427.1_Silent_p.V384V|UMODL1_ENST00000408989.2_Silent_p.V456V|UMODL1_ENST00000400424.1_Silent_p.V384V|UMODL1_ENST00000408910.2_Silent_p.V456V	p.H63Y							2	338	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.187C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630588	0.03584	.	.	ENSG00000184385	ENST00000329015	T	0.52983	0.64	3.49	0.362	0.16113	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.09310	N	1	B	0.28713	0.22	B	0.26416	0.069	T	0.28650	-1.0037	8	0.87932	D	0	-7.6093	6.7488	0.23475	0.118:0.5404:0.3416:0.0	.	63	Q8N2C9	CU128_HUMAN	Y	63	ENSP00000328495:H63Y	ENSP00000328495:H63Y	H	-	1	0	C21orf128	42397115	0.011000	0.17503	0.009000	0.14445	0.078000	0.17371	0.129000	0.15830	0.059000	0.16252	0.655000	0.94253	CAC		0.597	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			7	509	0	0	0	1	0	7	509					A	43524046	G	A	43524046	2	1	10	1	0	0	0	0	0	0	0	1	17034	1364	48	2		2	UMODL1	21	43524046	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	4030727	43524046	4605849	100	1108											
TRAPPC10	7109	broad.mit.edu	37	chr21	45502791	45502791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaccatgtacagccagAtgcctgtgcctgttcacgtg	10	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:45502791A>G	ENST00000291574.4	+	14	2021	c.1846A>G	c.(1846-1848)Atg>Gtg	p.M616V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	616					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTACAGCCAGATGCCTGTGCC	0.517																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(1846-1848)Atg>Gtg		trafficking protein particle complex 10							200	167	178					21																	45502791		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502791A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1846A>G	21.37:g.45502791A>G	ENSP00000291574:p.Met616Val						p.M616V	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2021	+			616					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1846A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864973	0.51482	.	.	ENSG00000160218	ENST00000291574	T	0.41400	1.0	5.58	4.39	0.52855	.	0.036580	0.85682	D	0.000000	T	0.31827	0.0809	L	0.29908	0.895	0.43069	D	0.994707	P	0.40431	0.717	B	0.38755	0.281	T	0.06643	-1.0815	10	0.44086	T	0.13	.	12.1873	0.54247	0.8569:0.1431:0.0:0.0	.	616	P48553	TPC10_HUMAN	V	616	ENSP00000291574:M616V	ENSP00000291574:M616V	M	+	1	0	TRAPPC10	44327219	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.282000	0.65615	0.894000	0.36317	0.533000	0.62120	ATG		0.517	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		6	513	0	0	0	1	0	6	513					G	45502791	A	G	45502791	3	3	10	1	0	0	0	0	1	0	0	0	16510	333	12	4	1900	4	TRAPPC10	21	45502791	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	1978745	45502791	2627104	101	1109											
COL18A1	80781	broad.mit.edu	37	chr21	46902721	46902721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacagggtgaagcaggcGccccaggacataaggtacaa	13	11	0	1	rs201476017	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:46902721G>A	ENST00000359759.4	+	14	2953	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T|COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		18322	0.0		0.001	False		,,,				2504	0.001					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2932-2934)Gcc>Acc		collagen, type XVIII, alpha 1		G	THR/ALA,THR/ALA	0,4088		0,0,2044	121	128	126		2227,1687	-1.6	0.1	21		126	6,8364		0,6,4179	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	58,58	0,6,6223	AA,AG,GG		0.0717,0.0,0.0482	probably-damaging,probably-damaging	743/1520,563/1340	46902721	6,12452	2044	4185	6229	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46902721G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2932G>A	21.37:g.46902721G>A	ENSP00000352798:p.Ala978Thr					COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T	p.A978T			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	14	2953	+			978			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2932G>A		.	.	.	.	.	.	.	.	.	.	G	11.05	1.524339	0.27299	0.0	7.17E-4	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759	D;D;D	0.94232	-3.23;-3.38;-3.38	2.62	-1.63	0.08345	.	.	.	.	.	D	0.84483	0.5482	L	0.37850	1.14	0.21386	N	0.999707	B;B;B	0.24576	0.106;0.086;0.086	B;B;B	0.13407	0.009;0.005;0.005	T	0.69007	-0.5259	9	0.12766	T	0.61	.	3.4304	0.07426	0.4039:0.205:0.3911:0.0	.	978;743;563	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	563;743;978	ENSP00000383191:A563T;ENSP00000347665:A743T;ENSP00000352798:A978T	ENSP00000347665:A743T	A	+	1	0	COL18A1	45727149	0.002000	0.14202	0.122000	0.21767	0.049000	0.14656	0.305000	0.19254	-0.414000	0.07495	0.549000	0.68633	GCC		0.592	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			19	196	0	0	0	1	0	19	196					A	46902721	G	A	46902721	3	1	10	1	0	0	0	0	1	0	0	0	3684	1087	38	1	3100	1	COL18A1	21	46902721	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1399930	46902721	1227174	102	1110											
PICK1	9463	broad.mit.edu	37	chr22	38470363	38470363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggcaactatgagtaccGcctgatcctgcgctgccgcc	10	17	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr22:38470363G>C	ENST00000404072.3	+	12	1231	c.884G>C	c.(883-885)cGc>cCc	p.R295P	PICK1_ENST00000356976.3_Missense_Mutation_p.R295P|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	295	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TATGAGTACCGCCTGATCCTG	0.682											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(883-885)cGc>cCc		protein interacting with PRKCA 1							30	33	32					22																	38470363		2202	4298	6500	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470363G>C	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.884G>C	22.37:g.38470363G>C	ENSP00000385205:p.Arg295Pro		OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	PICK1_ENST00000356976.3_Missense_Mutation_p.R295P	p.R295P	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			12	1231	+	Melanoma(58;0.045)		295			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.884G>C	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137385	0.94517	.	.	ENSG00000100151	ENST00000404072;ENST00000356976	T;T	0.80393	-1.37;-1.37	4.57	4.57	0.56435	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92404	0.5932	10	0.72032	D	0.01	-16.2978	17.7234	0.88358	0.0:0.0:1.0:0.0	.	295	Q9NRD5	PICK1_HUMAN	P	295	ENSP00000385205:R295P;ENSP00000349465:R295P	ENSP00000349465:R295P	R	+	2	0	PICK1	36800309	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.159000	0.77483	2.251000	0.74343	0.563000	0.77884	CGC		0.682	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		5	173	0	0	0	1	0	5	173					C	38470363	G	C	38470363	3	2	10	1	0	0	0	0	1	0	0	0	11923	1087	38	5	926	5	PICK1	22	38470363	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		38470363	12834203	103	1111											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			10	26						10	26	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	10	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-2J-AABK-01A-31D-A40W-08		51239296	104031264	104	1112											
GPR112	139378	broad.mit.edu	37	chrX	135426583	135426583	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatgacaattcaagaaaaaAgtacaactgtttcacaacag	5	7	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:135426583A>T	ENST00000394143.1	+	6	1009	c.718A>T	c.(718-720)Agt>Tgt	p.S240C	GPR112_ENST00000287534.4_Missense_Mutation_p.S177C|GPR112_ENST00000394141.1_Missense_Mutation_p.S35C|GPR112_ENST00000412101.1_Missense_Mutation_p.S35C|GPR112_ENST00000370652.1_Missense_Mutation_p.S240C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	240					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)			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)					TCAAGAAAAAAGTACAACTGT	0.333																																						ENST00000394143.1																			0				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						c.(718-720)Agt>Tgt		G protein-coupled receptor 112							80	62	68					X																	135426583		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426583A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.718A>T	X.37:g.135426583A>T	ENSP00000377699:p.Ser240Cys					GPR112_ENST00000394141.1_Missense_Mutation_p.S35C|GPR112_ENST00000412101.1_Missense_Mutation_p.S35C|GPR112_ENST00000287534.4_Missense_Mutation_p.S177C|GPR112_ENST00000370652.1_Missense_Mutation_p.S240C	p.S240C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1009	+	Acute lymphoblastic leukemia(192;0.000127)		240					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.718A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	12.04	1.818484	0.32145	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.19;1.19;1.01;1.01;1.01	4.3	4.3	0.51218	.	.	.	.	.	T	0.48447	0.1500	L	0.27053	0.805	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.71414	0.973;0.957;0.907	T	0.30937	-0.9961	9	0.72032	D	0.01	.	9.3376	0.38060	1.0:0.0:0.0:0.0	.	177;35;240	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	240;240;35;177;35	ENSP00000377699:S240C;ENSP00000359686:S240C;ENSP00000416526:S35C;ENSP00000287534:S177C;ENSP00000377697:S35C	ENSP00000287534:S177C	S	+	1	0	GPR112	135254249	0.461000	0.25783	0.255000	0.24374	0.024000	0.10985	3.803000	0.55560	1.661000	0.50771	0.414000	0.27820	AGT		0.333	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			36	111	0	0	0	1	0	36	111					T	135426583	A	T	135426583	3	4	10	1	0	0	0	0	1	0	0	0	6658	72	3	5	728	5	GPR112	23	135426583	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	84187287	135426583	19843977	105	1113											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	244						10	244	---	---	---	---	-	149639635	GCA	-	149639633	7	5	10	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2J-AABK-01A-31D-A40W-08	14213050	149639633	5630927	106	1114											
ABCD1	215	broad.mit.edu	37	chrX	153006119	153006119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctactcggagcaggacCtggaagccatcctggacgtc	14	12	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:153006119C>T	ENST00000218104.3	+	7	2125	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	576	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAGGACCTGGAAGCCAT	0.637																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1726-1728)Ctg>Ttg		ATP-binding cassette, sub-family D (ALD), member 1							85	71	76					X																	153006119		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153006119C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1726C>T	X.37:g.153006119C>T						U52111.14_ENST00000434284.1_RNA	p.L576L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			7	2125	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		576			ABC transporter.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1726C>T	CCDS14728.1																																																																																				0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		11	276	0	0	0	1	0	11	276					T	153006119	C	T	153006119	2	4	10	1	0	0	0	0	0	0	0	1	60	680	24	2		2	ABCD1	23	153006119	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	3366486	153006119	2264441	107	1115											
PLXNA3	55558	broad.mit.edu	37	chrX	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctcttccttgccgtGgggggggccctgggcaacag					rs375310385		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gtfs		plexin A3				47,59,3613		1,0,29,16,2,35,20,1525,499	34	32	33			0.6	0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688565delG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs						p.V14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	c.42delG	CCDS14752.1																																																																																				0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	264						8	264	---	---	---	---	-	153688565	G	-	153688565	7	5	10	1	0	1	0	1	0	0	0	0	12163	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Del	DEL	G	TCGA-2J-AABK-01A-31D-A40W-08	682446	153688565	1581995	108	1116											
PUSL1	126789	broad.mit.edu	37	chr1	1244928	1244928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggccactggctgtcacCggcgtgatgagctgccggtg	16	13	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:1244928C>T	ENST00000379031.5	+	4	495	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ACAP3_ENST00000354700.5_5'Flank|ACAP3_ENST00000353662.3_5'Flank|PUSL1_ENST00000470520.1_3'UTR|CPSF3L_ENST00000462432.1_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	140					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCTGTCACCGGCGTGATGA	0.687																																						ENST00000379031.5																			0				lung(3)|skin(1)|urinary_tract(1)	5						c.(418-420)Cgg>Tgg		pseudouridylate synthase-like 1							24	24	24					1																	1244928		2179	4285	6464	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1244928C>T	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.418C>T	1.37:g.1244928C>T	ENSP00000368318:p.Arg140Trp					PUSL1_ENST00000470520.1_3'UTR	p.R140W	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	495	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	140					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.418C>T	CCDS20.1	.	.	.	.	.	.	.	.	.	.	c	5.473	0.272323	0.10349	.	.	ENSG00000169972	ENST00000379031	T	0.58358	0.34	4.49	-8.47	0.00939	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	1.673000	0.04521	U	0.384611	T	0.38585	0.1046	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.26849	-1.0091	10	0.46703	T	0.11	-0.6521	0.5893	0.00725	0.2258:0.1719:0.3063:0.296	.	140	Q8N0Z8	PUSL1_HUMAN	W	140	ENSP00000368318:R140W	ENSP00000368318:R140W	R	+	1	2	PUSL1	1234791	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.823000	0.01710	-1.684000	0.01443	-0.389000	0.06534	CGG		0.687	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		13	78	0	0	0	1	0	13	78					T	1244928	C	T	1244928	3	4	11	1	0	0	0	0	1	0	0	0	12885	643	23	1	432	1	PUSL1	1	1244928	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		1244928	248005693	1	1117											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	7	12	5	1	rs200282759	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110	112	112					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	447	0	0	0	1	0	6	447					C	12907458	T	C	12907458	3	2	11	1	0	0	0	0	1	0	0	0	7293	1464	51	4	198	4	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	11662530	12907458	236343163	2	1118											
ZFYVE9	9372	broad.mit.edu	37	chr1	52747411	52747411	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagatagtcattcttctacAgtgtttaccggatgaaaagt	9	6	3	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:52747411A>C	ENST00000371591.1	+	9	3079	c.2948A>C	c.(2947-2949)cAg>cCg	p.Q983P	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.Q983P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	983					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTCTACAGTGTTTACCG	0.418																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(2947-2949)cAg>cCg		zinc finger, FYVE domain containing 9							201	174	183					1																	52747411		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52747411A>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2948A>C	1.37:g.52747411A>C	ENSP00000360647:p.Gln983Pro					ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q983P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P	p.Q983P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			10	3120	+			983					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2948A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563599	0.86335	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.58210	0.35;0.35;0.35	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	T	0.65554	0.2702	L	0.55481	1.735	0.80722	D	1	D;D	0.71674	0.998;0.989	P;D	0.63957	0.849;0.92	T	0.67711	-0.5600	10	0.54805	T	0.06	.	14.7338	0.69402	1.0:0.0:0.0:0.0	.	924;983	O95405-2;O95405	.;ZFYV9_HUMAN	P	924;983;983	ENSP00000349737:Q924P;ENSP00000287727:Q983P;ENSP00000360647:Q983P	ENSP00000287727:Q983P	Q	+	2	0	ZFYVE9	52519999	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	9.009000	0.93606	2.062000	0.61559	0.482000	0.46254	CAG		0.418	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		6	590	0	0	0	1	0	6	590					C	52747411	A	C	52747411	3	2	11	1	0	0	0	0	1	0	0	0	17724	188	7	4	2989	4	ZFYVE9	1	52747411	Missense_Mutation	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	39839953	52747411	196503210	3	1119											
S1PR1	1901	broad.mit.edu	37	chr1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcgctgctcaagaccGtaattatcgtcctgagcgtc	11	13	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(772-774)Gta>Ata		sphingosine-1-phosphate receptor 1							93	93	93					1																	101705312		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705312G>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.772G>A	1.37:g.101705312G>A	ENSP00000305416:p.Val258Ile						p.V258I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1147	+			258					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.772G>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632336	0.87660	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36878	1.23	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.55186	-0.8180	10	0.87932	D	0	.	18.848	0.92215	0.0:0.0:1.0:0.0	.	258	P21453	S1PR1_HUMAN	I	258	ENSP00000305416:V258I	ENSP00000305416:V258I	V	+	1	0	S1PR1	101477900	1.000000	0.71417	0.688000	0.30117	0.831000	0.47069	9.869000	0.99810	2.438000	0.82558	0.449000	0.29647	GTA		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		5	553	0	0	0	1	0	5	553					A	101705312	G	A	101705312	3	1	11	1	0	0	0	0	1	0	0	0	13843	1145	40	1	774	1	S1PR1	1	101705312	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	48957901	101705312	147545309	4	1120											
KCND3	3752	broad.mit.edu	37	chr1	112525004	112525004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagaaggccagctcgtcGtcgtaggcagagatgcactc	13	12	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:112525004G>A	ENST00000315987.2	-	2	824	c.345C>T	c.(343-345)gaC>gaT	p.D115D	KCND3_ENST00000369697.1_Silent_p.D115D|KCND3_ENST00000302127.4_Silent_p.D115D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	115					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCAGCTCGTCGTCGTAGGCAG	0.627																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(343-345)gaC>gaT		potassium voltage-gated channel, Shal-related subfamily, member 3							98	86	90					1																	112525004		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525004G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.345C>T	1.37:g.112525004G>A						KCND3_ENST00000302127.4_Silent_p.D115D|KCND3_ENST00000315987.2_Silent_p.D115D	p.D115D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	414	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	115					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.345C>T	CCDS843.1																																																																																				0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		30	269	0	0	0	1	0	30	269					A	112525004	G	A	112525004	2	1	11	1	0	0	0	0	0	0	0	1	8050	1136	40	1		1	KCND3	1	112525004	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	10819692	112525004	136725617	5	1121											
TRIM33	51592	broad.mit.edu	37	chr1	114968220	114968220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgttgcatgtgctggaGtcgaagctgtgctaagttaa	13	5	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:114968220G>T	ENST00000358465.2	-	9	1629	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I|TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	516					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCTGGAGTCGAAGCTGT	0.458			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1546-1548)Ctc>Atc		tripartite motif containing 33							356	312	327					1																	114968220		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968220G>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1546C>A	1.37:g.114968220G>T	ENSP00000351250:p.Leu516Ile					TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I|TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I	p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1629	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	516					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1546C>A	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.521938|4.521938	0.85600|0.85600	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77358	.|-0.89;-0.8;-1.09	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82861|0.82861	0.5129|0.5129	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;B	.|0.67145	.|0.982;0.982;0.996;0.434	.|D;D;D;B	.|0.75484	.|0.952;0.952;0.986;0.417	T|T	0.82466|0.82466	-0.0443|-0.0443	5|10	.|0.48119	.|T	.|0.1	-8.1052|-8.1052	18.9585|18.9585	0.92670|0.92670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;124;516;516	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	E|I	252|516;516;124	.|ENSP00000351250:L516I;ENSP00000358556:L516I;ENSP00000412077:L124I	.|ENSP00000351250:L516I	D|L	-|-	3|1	2|0	TRIM33|TRIM33	114769743|114769743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.114000|7.114000	0.77103|0.77103	2.554000|2.554000	0.86153|0.86153	0.650000|0.650000	0.86243|0.86243	GAC|CTC		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		106	926	1	0	2.33925e-33	1	2.55288e-33	106	926					T	114968220	G	T	114968220	3	4	11	1	0	0	0	0	1	0	0	0	16560	1029	36	3	1885	3	TRIM33	1	114968220	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	2443216	114968220	134282401	6	1122											
SYCP1	6847	broad.mit.edu	37	chr1	115417138	115417138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaatagatgaatatgaaCgggaagaaaccaggcaagtt	10	5	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:115417138C>T	ENST00000369522.3	+	9	850	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	204					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAATATGAACGGGAAGAAAC	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	1	Substitution - Missense(1)	p.R204W(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(610-612)Cgg>Tgg		synaptonemal complex protein 1							76	91	86					1																	115417138		2200	4292	6492	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115417138C>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.610C>T	1.37:g.115417138C>T	ENSP00000358535:p.Arg204Trp					SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	p.R204W	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	850	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	204					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.610C>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.58060	0.36;0.36;0.36	5.13	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.72894	2.215	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64968	-0.6282	10	0.87932	D	0	-5.1042	9.5872	0.39524	0.2601:0.7399:0.0:0.0	.	204;204	B7ZLS9;Q15431	.;SYCP1_HUMAN	W	204	ENSP00000358535:R204W;ENSP00000410011:R204W;ENSP00000358531:R204W	ENSP00000358531:R204W	R	+	1	2	SYCP1	115218661	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.147000	0.50639	2.564000	0.86499	0.655000	0.94253	CGG		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		59	671	0	0	0	1	0	59	671					T	115417138	C	T	115417138	3	4	11	1	0	0	0	0	1	0	0	0	15483	527	19	1	640	1	SYCP1	1	115417138	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	448918	115417138	133833483	7	1123											
NBPF10	100132406	broad.mit.edu	37	chr1	145360626	145360626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatagatgttattcgaCtccttcaggttgtcttgaac	9	8	2	2	rs186721360		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:145360626C>T	ENST00000342960.5	+	74	9286	c.9251C>T	c.(9250-9252)aCt>aTt	p.T3084I	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	642						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGTTATTCGACTCCTTCAGGT	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9250-9252)aCt>aTt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145360626C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9251C>T	1.37:g.145360626C>T	ENSP00000345684:p.Thr3084Ile					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.T3084I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9286	+	all_hematologic(923;0.032)		3084					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9251C>T	CCDS53355.1	12	0.005494505494505495	2	0.0040650406504065045	2	0.0055248618784530384	2	0.0034965034965034965	6	0.0079155672823219	.	9.871	1.198855	0.22121	.	.	ENSG00000163386	ENST00000342960	T	0.18338	2.22	1.08	0.106	0.14540	.	.	.	.	.	T	0.17746	0.0426	M	0.80028	2.48	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.05194	-1.0900	9	0.72032	D	0.01	.	3.3753	0.07235	0.0:0.7074:0.0:0.2926	.	2765	A6NDV3	.	I	3084	ENSP00000345684:T3084I	ENSP00000345684:T3084I	T	+	2	0	NBPF10	144071983	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	1.012000	0.29924	0.048000	0.15891	0.175000	0.17021	ACT		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	68	0	0	0	1	0	4	68					T	145360626	C	T	145360626	3	4	11	1	0	0	0	0	1	0	0	0	10234	565	20	2	9545	2	NBPF10	1	145360626	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	29943488	145360626	103889995	8	1124											
RPTN	126638	broad.mit.edu	37	chr1	152127241	152127241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgatggttctgctcGtcttcatgggtttgcctgtc	10	11	4	1	rs201916415		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152127241G>A	ENST00000316073.3	-	3	2398	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	778	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGTTCTGCTCGTCTTCATGGG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		24402	0.001		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2332-2334)gaC>gaT		repetin							761	606	653					1																	152127241		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127241G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2334C>T	1.37:g.152127241G>A							p.D778D	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2398	-			778			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.2334C>T	CCDS41397.1																																																																																				0.463	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		345	1445	0	0	0	1	0	345	1445					A	152127241	G	A	152127241	2	1	11	1	0	0	0	0	0	0	0	1	13714	1136	40	1		1	RPTN	1	152127241	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6766615	152127241	97123380	9	1125											
FLG2	388698	broad.mit.edu	37	chr1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtccaaagccagAggactgacctgagcctgatc	10	13	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	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)			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)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				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						c.(2227-2229)Tct>Gct		filaggrin family member 2							292	285	288					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>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.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1708	0	0	0	1	0	9	1708					C	152328035	A	C	152328035	3	2	11	1	0	0	0	0	1	0	0	0	5948	304	11	4	4952	4	FLG2	1	152328035	Missense_Mutation	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	200794	152328035	96922586	10	1126											
SMCP	4184	broad.mit.edu	37	chr1	152857174	152857174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctgagcccaactcaccGcaaactcaggacaagggctg	11	13	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537																																						ENST00000368765.3																			1	Substitution - coding silent(1)	p.P92P(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)ccG>ccA		sperm mitochondria-associated cysteine-rich protein							116	108	110					1																	152857174		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857174G>A	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"mitochondrial capsule selenoprotein"	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.276G>A	1.37:g.152857174G>A							p.P92P	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	426	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Silent	SNP	ENST00000368765.3	37	c.276G>A	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		6	527	0	0	0	1	0	6	527					A	152857174	G	A	152857174	2	1	11	1	0	0	0	0	0	0	0	1	14839	1074	38	1		1	SMCP	1	152857174	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	529139	152857174	96393447	11	1127											
KIAA0907	22889	broad.mit.edu	37	chr1	155887381	155887382	+	Frame_Shift_Ins	INS	-	-	G													ctgacttgggagtgggggctINSggggctggggctggggctgg							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:155887381_155887382insG	ENST00000368321.3	-	11	1371_1372	c.1348_1349insC	c.(1348-1350)cagfs	p.Q450fs	KIAA0907_ENST00000368320.3_Frame_Shift_Ins_p.Q450fs|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	450	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GAGTGggggctggggctggggc	0.564																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1348-1350)gccfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155887381_155887382insG	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1349dupC	1.37:g.155887385_155887385dupG	ENSP00000357304:p.Gln450fs					KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.A450fs	p.A450fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1373_1374	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		450			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Ins	INS	ENST00000368321.3	37	c.1348_1349insC	CCDS30885.1																																																																																				0.564	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		10	280						10	280	---	---	---	---	G	155887382	-	G	155887381	7	5	11	1	0	1	1	0	0	0	0	0	8229	1580	55	0	511	0	KIAA0907	1	155887381	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	3030207	155887381	93363240	12	1128											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		5	604	0	0	0	1	0	5	604					C	158725536	T	C	158725536	3	2	11	1	0	0	0	0	1	0	0	0	11246	1609	56	4	933	4	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	2838155	158725536	90525085	13	1129											
FCGR2B	2213	broad.mit.edu	37	chr1	161643018	161643018	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccatcactgtccaAggtatgcggagtctgccaag	11	12	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:161643018A>G	ENST00000358671.5	+	4	726	c.645A>G	c.(643-645)caA>caG	p.Q215Q	FCGR2B_ENST00000236937.9_Splice_Site_p.Q215Q|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208Q|FCGR2B_ENST00000367962.4_Splice_Site_p.Q215Q|FCGR2B_ENST00000428605.2_Splice_Site_p.Q215Q|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208Q|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215Q|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	215					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACTGTCCAAGGTATGCGGA	0.542			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"			L	?		ALL		0											c.e4+1		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						62	62	62					1																	161643018		2170	4292	6462	SO:0001630	splice_region_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161643018A>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.646+1A>G	1.37:g.161643018A>G						RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000236937.9_Splice_Site_p.Q215_splice|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215_splice|FCGR2B_ENST00000428605.2_Splice_Site_p.Q215_splice|FCGR2B_ENST00000358671.5_Splice_Site_p.Q215_splice|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208_splice|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208_splice	p.Q215_splice			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	772	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		215					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Splice_Site	SNP	ENST00000358671.5	37	c.646_splice	CCDS30924.1																																																																																				0.542	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	Silent	22	144	0	0	0	1	0	22	144					G	161643018	A	G	161643018	5	3	11	1	0	0	0	0	0	0	1	0	5807	86	3	4	659	4	FCGR2B	1	161643018	Splice_Site	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	2917482	161643018	87607603	14	1130											
KCTD3	51133	broad.mit.edu	37	chr1	215747171	215747171	+	Frame_Shift_Del	DEL	T	T	-													cttatgtggattccagattcTtttttttccaggtatgtctt							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:215747171delT	ENST00000259154.4	+	2	420	c.126delT	c.(124-126)tctfs	p.S42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCAGATTCTTTTTTTTCCA	0.229																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tcfs		potassium channel tetramerization domain containing 3							70	77	75					1																	215747171		2195	4282	6477	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747171delT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.126delT	1.37:g.215747171delT	ENSP00000259154:p.Ser42fs						p.S42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.126delT	CCDS1515.1																																																																																				0.229	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		8	1048						8	1048	---	---	---	---	-	215747171	T	-	215747171	7	5	11	1	0	1	0	1	0	0	0	0	8140	1596	56	0	132	0	KCTD3	1	215747171	Frame_Shift_Del	DEL	T	TCGA-2J-AABO-01A-21D-A40W-08	54104153	215747171	33503450	15	1131											
ZNF496	84838	broad.mit.edu	37	chr1	247464376	247464376	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcggacacacgtaggacttCttggaggtctgcacctcgcc	11	13	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:247464376C>A	ENST00000294753.4	-	9	1673	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	403					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTAGGACTTCTTGGAGGTCT	0.642																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1207-1209)aaG>aaT		zinc finger protein 496							44	43	43					1																	247464376		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464376C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1209G>T	1.37:g.247464376C>A	ENSP00000294753:p.Lys403Asn					ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N|ZNF496_ENST00000462139.1_5'UTR	p.K403N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1673	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		403					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1209G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465499	0.43839	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.45276	0.9;0.9	4.65	-4.52	0.03472	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.008270	0.07967	N	0.983345	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	0.999996	P;P	0.37276	0.589;0.454	B;B	0.36608	0.229;0.037	T	0.25012	-1.0144	10	0.59425	D	0.04	-7.8109	6.9593	0.24587	0.0:0.3763:0.1183:0.5054	.	439;403	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	N	403;439	ENSP00000294753:K403N;ENSP00000355454:K439N	ENSP00000294753:K403N	K	-	3	2	ZNF496	245530999	0.001000	0.12720	0.003000	0.11579	0.217000	0.24651	-0.786000	0.04623	-1.039000	0.03275	-0.140000	0.14226	AAG		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		10	265	1	0	0.000442599	1	0.000453997	10	265					A	247464376	C	A	247464376	3	1	11	1	0	0	0	0	1	0	0	0	17998	912	32	3	558	3	ZNF496	1	247464376	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	31717205	247464376	1786245	16	1132											
GPR113	165082	broad.mit.edu	37	chr2	26534165	26534165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaccatgttgagcagggCggcgtggcggaaataggaga	17	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:26534165C>T	ENST00000311519.1	-	11	2430	c.2431G>A	c.(2431-2433)Gcc>Acc	p.A811T	GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T|GPR113_ENST00000333478.6_Missense_Mutation_p.A612T|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	811					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGCAGGGCGGCGTGGCGG	0.622																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1834-1836)Gcc>Acc		G protein-coupled receptor 113							64	50	55					2																	26534165		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534165C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2431G>A	2.37:g.26534165C>T	ENSP00000307831:p.Ala811Thr					GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T|GPR113_ENST00000311519.1_Missense_Mutation_p.A811T	p.A612T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2416	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		811					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1834G>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.443938	0.12164	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.0	1.07	0.20283	GPCR, family 2-like (1);	.	.	.	.	T	0.31389	0.0795	L	0.47016	1.485	0.45515	D	0.998478	P;P;B;P	0.42409	0.779;0.72;0.378;0.497	B;B;B;B	0.43680	0.427;0.209;0.427;0.169	T	0.12142	-1.0559	9	0.22109	T	0.4	-11.1476	2.2265	0.03985	0.1221:0.4838:0.1187:0.2754	.	742;612;811;414	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	T	414;612;742;811	ENSP00000445729:A414T;ENSP00000327396:A612T;ENSP00000388537:A742T;ENSP00000307831:A811T	ENSP00000307831:A811T	A	-	1	0	GPR113	26387669	0.001000	0.12720	0.052000	0.19188	0.087000	0.18053	-0.211000	0.09332	-0.077000	0.12752	-0.703000	0.03666	GCC		0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		13	115	0	0	0	1	0	13	115					T	26534165	C	T	26534165	3	4	11	1	0	0	0	0	1	0	0	0	6659	768	27	1	909	1	GPR113	2	26534165	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		26534165	216665208	17	1133											
CRIM1	51232	broad.mit.edu	37	chr2	36726453	36726453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattaatggtttcaaacgCgatcacaatggttgtcggac	10	8	2	0	rs375356337		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:36726453C>T	ENST00000280527.2	+	8	1831	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	488	Antistasin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00582}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1462-1464)cgC>cgT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							151	137	142					2																	36726453		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36726453C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1464C>T	2.37:g.36726453C>T							p.R488R	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			8	1831	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	488			Antistasin-like 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1464C>T	CCDS1783.1																																																																																				0.408	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		56	456	0	0	0	1	0	56	456					T	36726453	C	T	36726453	2	4	11	1	0	0	0	0	0	0	0	1	3882	755	27	1		1	CRIM1	2	36726453	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	10192288	36726453	206472920	18	1134											
QPCT	25797	broad.mit.edu	37	chr2	37571893	37571893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcaggcggaagacacCggcgcgtcgtgggcaccctc	16	13	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:37571893C>T	ENST00000338415.3	+	1	177	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	7					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGAAGACACCGGCGCGTCGT	0.711																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(19-21)Cgg>Tgg		glutaminyl-peptide cyclotransferase							14	18	17					2																	37571893		2188	4274	6462	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37571893C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.19C>T	2.37:g.37571893C>T	ENSP00000344829:p.Arg7Trp					QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			1	177	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	7					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.19C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451494	0.26074	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.31510	1.49;1.49;1.49	4.57	1.6	0.23607	.	1.023380	0.07800	N	0.956267	T	0.27594	0.0678	L	0.53249	1.67	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.04013	0.001;0.001	T	0.34104	-0.9842	10	0.66056	D	0.02	.	4.3052	0.10944	0.1911:0.5985:0.0:0.2104	.	7;7	Q16769-2;Q16769	.;QPCT_HUMAN	W	7	ENSP00000344829:R7W;ENSP00000385391:R7W;ENSP00000441606:R7W	ENSP00000344829:R7W	R	+	1	2	QPCT	37425397	0.000000	0.05858	0.028000	0.17463	0.209000	0.24338	-0.551000	0.06027	0.439000	0.26476	0.455000	0.32223	CGG		0.711	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			5	53	0	0	0	1	0	5	53					T	37571893	C	T	37571893	3	4	11	1	0	0	0	0	1	0	0	0	12924	643	23	1	21	1	QPCT	2	37571893	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	845440	37571893	205627480	19	1135											
ABCG8	64241	broad.mit.edu	37	chr2	44102330	44102330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctacatcatcatctacGggatgcccacctactggctg	9	14	3	0	rs376069170		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:44102330G>A	ENST00000272286.2	+	11	1624	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	512	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.G512W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CATCATCTACGGGATGCCCAC	0.562																																						ENST00000272286.2																			1	Substitution - Missense(1)	p.G512W(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1534-1536)Ggg>Agg		ATP-binding cassette, sub-family G (WHITE), member 8		G	ARG/GLY	0,4406		0,0,2203	85	78	80		1534	3.7	0.7	2		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG8	NM_022437.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	512/674	44102330	1,13005	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102330G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1534G>A	2.37:g.44102330G>A	ENSP00000272286:p.Gly512Arg						p.G512R	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			11	1624	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	512			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1534G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834015	0.50951	0.0	1.16E-4	ENSG00000143921	ENST00000272286	T	0.72394	-0.65	4.62	3.72	0.42706	ABC-2 type transporter (1);	0.264244	0.42821	N	0.000659	T	0.65165	0.2665	M	0.63428	1.95	0.44388	D	0.997299	P;P	0.39665	0.631;0.682	B;B	0.35859	0.135;0.212	T	0.62501	-0.6841	10	0.23891	T	0.37	.	14.5487	0.68050	0.0:0.1475:0.8525:0.0	.	511;512	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	512	ENSP00000272286:G512R	ENSP00000272286:G512R	G	+	1	0	ABCG8	43955834	1.000000	0.71417	0.729000	0.30791	0.885000	0.51271	6.127000	0.71642	0.913000	0.36797	0.467000	0.42956	GGG		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		69	324	0	0	0	1	0	69	324					A	44102330	G	A	44102330	3	1	11	1	0	0	0	0	1	0	0	0	72	1116	39	1	1576	1	ABCG8	2	44102330	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6530437	44102330	199097043	20	1136											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55	55	55					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		12	438						12	438	---	---	---	---	-	55549818	T	-	55549818	7	5	11	1	0	1	0	1	0	0	0	0	2870	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-2J-AABO-01A-21D-A40W-08	11447488	55549818	187649555	21	1137											
MAL	4118	broad.mit.edu	37	chr2	95715409	95715409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccatcacgatgcaagaCggcttcacctacaggcacta	8	15	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:95715409C>T	ENST00000309988.4	+	3	454	c.345C>T	c.(343-345)gaC>gaT	p.D115D	MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron|MAL_ENST00000349807.3_Intron|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	115	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CGATGCAAGACGGCTTCACCT	0.647																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(343-345)gaC>gaT		mal, T-cell differentiation protein							144	127	133					2																	95715409		2203	4300	6503	SO:0001819	synonymous_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715409C>T		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.345C>T	2.37:g.95715409C>T						MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron|MAL_ENST00000349807.3_Intron	p.D115D	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	454	+			115			MARVEL.		Q6FH77	Silent	SNP	ENST00000309988.4	37	c.345C>T	CCDS2006.1																																																																																				0.647	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		96	406	0	0	0	1	0	96	406					T	95715409	C	T	95715409	2	4	11	1	0	0	0	0	0	0	0	1	9240	535	19	1		1	MAL	2	95715409	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	40165591	95715409	147483964	22	1138											
RGPD3	653489	broad.mit.edu	37	chr2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33	53	47					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	2277						7	2277	---	---	---	---	-	107041534	A	-	107041534	7	5	11	1	0	1	0	1	0	0	0	0	13337	127	5	0	2403	0	RGPD3	2	107041534	Frame_Shift_Del	DEL	A	TCGA-2J-AABO-01A-21D-A40W-08	11326125	107041534	136157839	23	1139											
LCT	3938	broad.mit.edu	37	chr2	136567237	136567237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtagaacaaatctctttCgaacttgggttggctggaga	13	6	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:136567237C>T	ENST00000264162.2	-	8	2690	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	894	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAATCTCTTTCGAACTTGGGT	0.517																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2680-2682)Gaa>Aaa		lactase							118	124	122					2																	136567237		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567237C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2680G>A	2.37:g.136567237C>T	ENSP00000264162:p.Glu894Lys						p.E894K	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2690	-			894			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2680G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847176	0.71603	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29917	1.55	5.78	5.78	0.91487	.	0.148918	0.64402	D	0.000012	T	0.59032	0.2164	M	0.78049	2.395	0.51767	D	0.999935	D	0.67145	0.996	D	0.67231	0.95	T	0.61113	-0.7128	10	0.72032	D	0.01	-28.1342	20.0139	0.97470	0.0:1.0:0.0:0.0	.	894	P09848	LPH_HUMAN	K	894;326	ENSP00000264162:E894K	ENSP00000264162:E894K	E	-	1	0	LCT	136283707	0.995000	0.38212	1.000000	0.80357	0.647000	0.38526	1.529000	0.35996	2.724000	0.93272	0.563000	0.77884	GAA		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		51	593	0	0	0	1	0	51	593					T	136567237	C	T	136567237	3	4	11	1	0	0	0	0	1	0	0	0	8724	893	31	1	3143	1	LCT	2	136567237	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	29525703	136567237	106632136	24	1140											
LRP1B	53353	broad.mit.edu	37	chr2	141128374	141128374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggctttatttttgcacCgaaactgatcttccttacat	7	9	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:141128374C>T	ENST00000389484.3	-	71	11884	c.10913G>A	c.(10912-10914)cGg>cAg	p.R3638Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		ATTTTTGCACCGAAACTGATC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(10912-10914)cGg>cAg		low density lipoprotein receptor-related protein 1B							183	169	174					2																	141128374		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128374C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10913G>A	2.37:g.141128374C>T	ENSP00000374135:p.Arg3638Gln	TSP Lung(27;0.18)					p.R3638Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	71	11884	-		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)	3638			LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10913G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000256	0.35320	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.41400	1.0	5.12	4.23	0.50019	.	0.218941	0.31335	N	0.007839	T	0.18173	0.0436	N	0.05608	-0.01	0.24759	N	0.992934	B	0.06786	0.001	B	0.04013	0.001	T	0.26087	-1.0113	10	0.02654	T	1	.	9.1573	0.37000	0.0:0.8316:0.0:0.1684	.	3638	Q9NZR2	LRP1B_HUMAN	Q	3638;3576	ENSP00000374135:R3638Q	ENSP00000374135:R3638Q	R	-	2	0	LRP1B	140844844	0.931000	0.31567	1.000000	0.80357	0.996000	0.88848	1.822000	0.39052	1.132000	0.42129	0.491000	0.48974	CGG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		39	590	0	0	0	1	0	39	590					T	141128374	C	T	141128374	3	4	11	1	0	0	0	0	1	0	0	0	8993	652	23	1	2970	1	LRP1B	2	141128374	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4561137	141128374	102070999	25	1141											
NBEAL1	65065	broad.mit.edu	37	chr2	204009335	204009335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtttgtgcaatgGcatcagctaagctaaatacc	8	11	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:204009335G>A	ENST00000449802.1	+	31	5107	c.4774G>A	c.(4774-4776)Gca>Aca	p.A1592T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1592										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGTGCAATGGCATCAGCTAA	0.403																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4774-4776)Gca>Aca		neurobeachin-like 1							107	95	99					2																	204009335		1890	4117	6007	SO:0001583	missense	65065						binding	g.chr2:204009335G>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4774G>A	2.37:g.204009335G>A	ENSP00000399903:p.Ala1592Thr						p.A1592T	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			31	5107	+			1592					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4774G>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198565	0.94997	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.74106	-0.81	5.8	5.8	0.92144	.	0.798454	0.11851	N	0.523346	D	0.88074	0.6339	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86728	0.1946	10	0.87932	D	0	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	1592;1581	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	1592	ENSP00000399903:A1592T	ENSP00000344985:A1592T	A	+	1	0	NBEAL1	203717580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.748000	0.94277	0.655000	0.94253	GCA		0.403	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			5	417	0	0	0	1	0	5	417					A	204009335	G	A	204009335	3	1	11	1	0	0	0	0	1	0	0	0	10229	1203	42	2	4892	2	NBEAL1	2	204009335	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	62880961	204009335	39190038	26	1142											
EPHA4	2043	broad.mit.edu	37	chr2	222307700	222307700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctctcttgccaggcacTttgagacgcccactgcatac	7	15	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:222307700T>G	ENST00000281821.2	-	11	1964	c.1923A>C	c.(1921-1923)aaA>aaC	p.K641N	EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	641	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCAGGCACTTTGAGACGCC	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1921-1923)aaA>aaC		EPH receptor A4							130	125	127					2																	222307700		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307700T>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1923A>C	2.37:g.222307700T>G	ENSP00000281821:p.Lys641Asn					EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N|EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N	p.K641N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	1964	-		Renal(207;0.0183)	641			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1923A>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785330	0.70337	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	6.06	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	L	0.47078	1.49	0.58432	D	0.999997	P	0.52463	0.953	P	0.58454	0.839	D	0.84672	0.0712	10	0.87932	D	0	.	8.1583	0.31183	0.0:0.2111:0.0:0.7889	.	641	P54764	EPHA4_HUMAN	N	641;641;641;590	ENSP00000281821:K641N;ENSP00000386276:K641N;ENSP00000386829:K641N;ENSP00000375923:K590N	ENSP00000281821:K641N	K	-	3	2	EPHA4	222015944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.233000	0.32648	1.121000	0.41925	0.533000	0.62120	AAA		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			34	476	0	0	0	1	0	34	476					G	222307700	T	G	222307700	3	3	11	1	0	0	0	0	1	0	0	0	5187	1606	56	4	1065	4	EPHA4	2	222307700	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	18298365	222307700	20891673	27	1143											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	26	3	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30	40	37					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	122	0	0	0	1	0	8	122					G	227659846	T	G	227659846	2	3	11	1	0	0	0	0	0	0	0	1	7870	1683	59	4		4	IRS1	2	227659846	Silent	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	5352146	227659846	15539527	28	1144											
GBX2	2637	broad.mit.edu	37	chr2	237074778	237074778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggcgatctgcgagcgctCggtcaaggagaggtactttt	16	8	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:237074778C>T	ENST00000306318.4	-	2	1223	c.826G>A	c.(826-828)Gag>Aag	p.E276K	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	276					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCGAGCGCTCGGTCAAGGAG	0.602																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(826-828)Gag>Aag		gastrulation brain homeobox 2							75	79	78					2																	237074778		2203	4300	6503	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074778C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.826G>A	2.37:g.237074778C>T	ENSP00000302251:p.Glu276Lys					GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	p.E276K	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1223	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	276					B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.826G>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081431	0.94050	.	.	ENSG00000168505	ENST00000306318	D	0.96300	-3.97	4.66	4.66	0.58398	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96285	0.9209	10	0.36615	T	0.2	-15.9796	17.5569	0.87894	0.0:1.0:0.0:0.0	.	276	P52951	GBX2_HUMAN	K	276	ENSP00000302251:E276K	ENSP00000302251:E276K	E	-	1	0	GBX2	236739517	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.990000	0.70595	2.133000	0.65898	0.561000	0.74099	GAG		0.602	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		10	507	0	0	0	1	0	10	507					T	237074778	C	T	237074778	3	4	11	1	0	0	0	0	1	0	0	0	6309	893	31	1	224	1	GBX2	2	237074778	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9414932	237074778	6124595	29	1145											
ESPNL	339768	broad.mit.edu	37	chr2	239037368	239037368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagagacggcgctggcGggggacacctcagatggcct	18	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:239037368G>A	ENST00000343063.3	+	8	1499	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	ESPNL_ENST00000409169.1_Silent_p.A368A|ESPNL_ENST00000409506.1_Silent_p.A44A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	412										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGCGCTGGCGGGGGACACCT	0.701																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1234-1236)gcG>gcA		espin-like							13	16	15					2																	239037368		2183	4282	6465	SO:0001819	synonymous_variant	339768							g.chr2:239037368G>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1236G>A	2.37:g.239037368G>A						ESPNL_ENST00000409506.1_Silent_p.A44A|ESPNL_ENST00000409169.1_Silent_p.A368A	p.A412A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1499	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	412					Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	c.1236G>A	CCDS2525.1																																																																																				0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		9	41	0	0	0	1	0	9	41					A	239037368	G	A	239037368	2	1	11	1	0	0	0	0	0	0	0	1	5273	1103	39	1		1	ESPNL	2	239037368	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1962590	239037368	4162005	30	1146											
TDGF1	6997	broad.mit.edu	37	chr3	46621337	46621337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgtgagcacgatgtgcGcaaagagtaagcaattcaga	12	7	1	3	rs546750009		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46621337G>A	ENST00000296145.5	+	4	1065	c.332G>A	c.(331-333)cGc>cAc	p.R111H	TDGF1_ENST00000542931.1_Missense_Mutation_p.R95H|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	111			R -> G (in dbSNP:rs34501971).		activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CACGATGTGCGCAAAGAGTAA	0.547																																						ENST00000296145.5																			0				cervix(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(331-333)cGc>cAc		teratocarcinoma-derived growth factor 1							69	72	71					3																	46621337		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46621337G>A	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.332G>A	3.37:g.46621337G>A	ENSP00000296145:p.Arg111His					LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.R95H	p.R111H	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	4	1065	+			111		R -> G (in dbSNP:rs34501971).			Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.332G>A	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084278	0.36758	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.66280	-0.19;-0.2	4.44	2.64	0.31445	.	0.126759	0.53938	N	0.000042	T	0.57344	0.2047	M	0.74881	2.28	0.30445	N	0.77578	B	0.11235	0.004	B	0.04013	0.001	T	0.57051	-0.7877	10	0.46703	T	0.11	.	7.3485	0.26676	0.1779:0.0:0.8221:0.0	.	111	P13385	TDGF1_HUMAN	H	95;111	ENSP00000446375:R95H;ENSP00000296145:R111H	ENSP00000296145:R111H	R	+	2	0	AC104304.1	46596341	0.891000	0.30450	0.005000	0.12908	0.061000	0.15899	2.995000	0.49441	0.625000	0.30304	0.655000	0.94253	CGC		0.547	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		7	366	0	0	0	1	0	7	366					A	46621337	G	A	46621337	3	1	11	1	0	0	0	0	1	0	0	0	15778	1087	38	1	346	1	TDGF1	3	46621337	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		46621337	151401093	31	1147											
ALS2CL	259173	broad.mit.edu	37	chr3	46718503	46718503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggggaaggcacccacGcccagctgcctgcgatgggg	15	15	0	0	rs375239761		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46718503G>A	ENST00000318962.4	-	17	1850	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALS2CL_ENST00000415953.1_Silent_p.G589G|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	589					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCACCCACGCCCAGCTGCC	0.677																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1765-1767)ggC>ggT		ALS2 C-terminal like		A	,,	0,4406		0,0,2203	38	47	44		1767,1767,	-9.3	0	3		44	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous,utr-5	ALS2CL	NM_001190707.1,NM_147129.3,NM_182775.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	589/954,589/954,	46718503	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718503G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1767C>T	3.37:g.46718503G>A						ALS2CL_ENST00000415953.1_Silent_p.G589G|ALS2CL_ENST00000383742.3_5'UTR	p.G589G	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	1850	-			589					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1767C>T	CCDS2743.1																																																																																				0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		5	283	0	0	0	1	0	5	283					A	46718503	G	A	46718503	2	1	11	1	0	0	0	0	0	0	0	1	551	1074	38	1		1	ALS2CL	3	46718503	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	97166	46718503	151303927	32	1148											
CELSR3	1951	broad.mit.edu	37	chr3	48677877	48677877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcatagatgcgaccGtaagaggcagctggcacagc	13	13	0	2	rs372356484		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:48677877G>A	ENST00000164024.4	-	34	9421	c.9141C>T	c.(9139-9141)taC>taT	p.Y3047Y	CELSR3_ENST00000544264.1_Silent_p.Y3052Y	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3047					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)			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)		AGATGCGACCGTAAGAGGCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13372	0.001		0.0	False		,,,				2504	0.0					ENST00000544264.1																			0				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						c.(9154-9156)taC>taT		cadherin, EGF LAG seven-pass G-type receptor 3		G		0,4404		0,0,2202	36	40	39		9141	-7.2	0.5	3		39	1,8579		0,1,4289	no	coding-synonymous	CELSR3	NM_001407.2		0,1,6491	AA,AG,GG		0.0117,0.0,0.0077		3047/3313	48677877	1,12983	2202	4290	6492	SO:0001819	synonymous_variant	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.chr3:48677877G>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.9141C>T	3.37:g.48677877G>A						CELSR3_ENST00000164024.4_Silent_p.Y3047Y	p.Y3052Y			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9436	-			3047					O75092	Silent	SNP	ENST00000164024.4	37	c.9156C>T	CCDS2775.1																																																																																				0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	247	0	0	0	1	0	5	247					A	48677877	G	A	48677877	2	1	11	1	0	0	0	0	0	0	0	1	3232	1140	40	1		1	CELSR3	3	48677877	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1959374	48677877	149344553	33	1149											
C3orf63	23272	broad.mit.edu	37	chr3	56667404	56667404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtatctttcaaaggatcacTacacagtggctcaaggagat	10	8	4	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:56667404T>G	ENST00000493960.2	-	18	3425	c.3415A>C	c.(3415-3417)Agt>Cgt	p.S1139R	FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R|FAM208A_ENST00000431842.2_Missense_Mutation_p.S702R	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1139							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAGGATCACTACACAGTGGC	0.433																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2104-2106)Agt>Cgt		family with sequence similarity 208, member A							154	146	149					3																	56667404		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667404T>G	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3415A>C	3.37:g.56667404T>G	ENSP00000417509:p.Ser1139Arg					FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R|FAM208A_ENST00000493960.2_Missense_Mutation_p.S1139R	p.S702R	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	3028	-			1139					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2104A>C	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069995	0.36566	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12361	2.69;2.9;2.88	5.71	1.68	0.24146	.	0.520353	0.21811	N	0.068775	T	0.10337	0.0253	L	0.46157	1.445	0.21020	N	0.999808	B;B;B;B	0.24721	0.029;0.11;0.008;0.065	B;B;B;B	0.20767	0.015;0.031;0.015;0.017	T	0.21895	-1.0232	10	0.54805	T	0.06	-5.9455	3.752	0.08570	0.1331:0.0723:0.1307:0.6639	.	1139;1078;702;1139	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	R	702;1139;1078	ENSP00000399410:S702R;ENSP00000417509:S1139R;ENSP00000347845:S1078R	ENSP00000347845:S1078R	S	-	1	0	C3orf63	56642444	0.020000	0.18652	0.995000	0.50966	0.969000	0.65631	0.933000	0.28897	0.487000	0.27698	0.528000	0.53228	AGT		0.433	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		81	511	0	0	0	1	0	81	511					G	56667404	T	G	56667404	3	3	11	1	0	0	0	0	1	0	0	0	2246	1522	53	4	1685	4	C3orf63	3	56667404	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	7989527	56667404	141355026	34	1150											
FAM107A	11170	broad.mit.edu	37	chr3	58555463	58555463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagctcctggtgactcCgagaggccttcacggggttc	16	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:58555463C>T	ENST00000394481.1	-	3	683	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	42					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGTGACTCCGAGAGGCCTT	0.632																																						ENST00000394481.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(124-126)cGg>cAg		family with sequence similarity 107, member A							63	66	65					3																	58555463		2203	4300	6503	SO:0001583	missense	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555463C>T	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.125G>A	3.37:g.58555463C>T	ENSP00000377991:p.Arg42Gln					FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q	p.R42Q	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	683	-			42					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	c.125G>A	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065072	0.76187	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.48	3.59	0.41128	.	0.241877	0.39274	N	0.001412	T	0.44582	0.1300	M	0.73598	2.24	0.31818	N	0.626326	P;D;P;P	0.55800	0.727;0.973;0.898;0.898	B;P;B;B	0.47346	0.259;0.544;0.284;0.284	T	0.55515	-0.8129	10	0.36615	T	0.2	-30.2881	7.6386	0.28280	0.0:0.7936:0.0:0.2064	.	70;42;73;42	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	Q	42;42;42;73;70;42	ENSP00000354270:R42Q;ENSP00000377991:R42Q;ENSP00000419529:R42Q;ENSP00000419124:R73Q;ENSP00000400858:R70Q;ENSP00000418038:R42Q	ENSP00000354270:R42Q	R	-	2	0	FAM107A	58530503	0.001000	0.12720	0.984000	0.44739	0.807000	0.45602	0.874000	0.28065	2.217000	0.71921	0.655000	0.94253	CGG		0.632	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		28	292	0	0	0	1	0	28	292					T	58555463	C	T	58555463	3	4	11	1	0	0	0	0	1	0	0	0	5410	652	23	1	321	1	FAM107A	3	58555463	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1888059	58555463	139466967	35	1151											
CBLB	868	broad.mit.edu	37	chr3	105456084	105456084	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcaggattataactcctCccatcaggataaagataact	5	9	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:105456084C>T	ENST00000264122.4	-	8	1323	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	334	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				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)			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						TATAACTCCTCCCATCAGGAT	0.264			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				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						c.(1000-1002)ggG>ggA		Cbl proto-oncogene B, E3 ubiquitin protein ligase							95	97	96					3																	105456084		2201	4282	6483	SO:0001819	synonymous_variant	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.chr3:105456084C>T	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.1002G>A	3.37:g.105456084C>T						CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G|CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G	p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			8	1323	-			334			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1002G>A	CCDS2948.1																																																																																				0.264	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		39	775	0	0	0	1	0	39	775					T	105456084	C	T	105456084	2	4	11	1	0	0	0	0	0	0	0	1	2708	842	30	2		2	CBLB	3	105456084	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	46900621	105456084	92566346	36	1152											
TMEM22	80723	broad.mit.edu	37	chr3	136573585	136573586	+	Frame_Shift_Ins	INS	-	-	A													acaattccagagctttgcagINSaaaaaaacatttttcaatcc							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:136573585_136573586insA	ENST00000446465.2	+	2	911_912	c.283_284insA	c.(283-285)gaafs	p.E95fs	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.E95fs	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGCTTTGCAGAAAAAAACATT	0.416																																						ENST00000446465.2																			0											c.(283-285)aaafs		solute carrier family 35, member G2																																				SO:0001589	frameshift_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573585_136573586insA	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.290dupA	3.37:g.136573592_136573592dupA	ENSP00000400839:p.Glu95fs					SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.K95fs|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	p.K95fs	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	911_912	+			95						Frame_Shift_Ins	INS	ENST00000446465.2	37	c.283_284insA	CCDS3091.1																																																																																				0.416	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		52	565						52	565	---	---	---	---	A	136573586	-	A	136573585	7	5	11	1	0	1	1	0	0	0	0	0	16195	943	33	0	285	0	TMEM22	3	136573585	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	31117501	136573585	61448845	37	1153											
SR140	23350	broad.mit.edu	37	chr3	142741876	142741876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaatgctcctatgttaccGccacctaaaaacaaagagga	6	12	0	1	rs368643846		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:142741876G>A	ENST00000473835.2	+	12	1290	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	U2SURP_ENST00000493598.2_Silent_p.P399P|U2SURP_ENST00000397933.2_Missense_Mutation_p.R6H	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	400	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTATGTTACCGCCACCTAAAA	0.408																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(16-18)cGc>cAc		U2 snRNP-associated SURP domain containing		G		0,3688		0,0,1844	33	30	31		1200	-10.9	0.3	3		31	1,8183		0,1,4091	no	coding-synonymous	U2SURP	NM_001080415.1		0,1,5935	AA,AG,GG		0.0122,0.0,0.0084		400/1030	142741876	1,11871	1844	4092	5936	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741876G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1200G>A	3.37:g.142741876G>A						U2SURP_ENST00000473835.2_Silent_p.P400P|U2SURP_ENST00000493598.2_Silent_p.P399P	p.R6H			O15042	SR140_HUMAN			12	1299	+			0					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.17G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232748	0.09969	0.0	1.22E-4	ENSG00000163714	ENST00000397933	.	.	.	5.93	-10.9	0.00192	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	7	0.87932	D	0	-7.9104	13.2401	0.59992	0.7637:0.0704:0.0906:0.0754	.	6	O15042-3	.	H	6	.	ENSP00000381027:R6H	R	+	2	0	U2SURP	144224566	0.746000	0.28272	0.337000	0.25536	0.988000	0.76386	-0.025000	0.12413	-1.938000	0.01046	-0.812000	0.03155	CGC		0.408	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		4	94	0	0	0	1	0	4	94					A	142741876	G	A	142741876	2	1	11	1	0	0	0	0	0	0	0	1	15183	1074	38	1		1	SR140	3	142741876	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6168291	142741876	55280554	38	1154											
KNG1	3827	broad.mit.edu	37	chr3	186443035	186443035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcttaatgaagtaaaaCgggcccaaagacaggtttgt	10	7	1	2	rs562438530	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:186443035C>T	ENST00000265023.4	+	4	762	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	KNG1_ENST00000287611.2_Missense_Mutation_p.R184W|KNG1_ENST00000447445.1_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	184	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGAAGTAAAACGGGCCCAAAG	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		17984	0.0		0.0	False		,,,				2504	0.0031					ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(550-552)Cgg>Tgg		kininogen 1	Ouabain(DB01092)						100	90	93					3																	186443035		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186443035C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.550C>T	3.37:g.186443035C>T	ENSP00000265023:p.Arg184Trp					KNG1_ENST00000447445.1_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R184W	p.R184W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	762	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		184			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.550C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170951	0.78452	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.30182	2.38;2.38;1.54	4.92	-1.75	0.08031	Proteinase inhibitor I25, cystatin (2);	1.061570	0.07280	N	0.870615	T	0.43033	0.1229	M	0.61703	1.905	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66979	0.948;0.928	T	0.34477	-0.9827	10	0.72032	D	0.01	2.3875	1.214	0.01910	0.3907:0.174:0.2979:0.1373	.	184;184	P01042;P01042-2	KNG1_HUMAN;.	W	184;184;184;172	ENSP00000287611:R184W;ENSP00000265023:R184W;ENSP00000396025:R184W	ENSP00000265023:R184W	R	+	1	2	KNG1	187925729	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.332000	0.07904	-0.388000	0.07797	0.561000	0.74099	CGG		0.398	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		80	358	0	0	0	1	0	80	358					T	186443035	C	T	186443035	3	4	11	1	0	0	0	0	1	0	0	0	8457	527	19	1	564	1	KNG1	3	186443035	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	43701159	186443035	11579395	39	1155											
FAM193A	8603	broad.mit.edu	37	chr4	2702034	2702034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcaaaggctaaggtggtcGacctcatgtccatcacagag	11	10	3	1	rs139214563	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:2702034G>A	ENST00000324666.5	+	17	3613	c.3262G>A	c.(3262-3264)Gac>Aac	p.D1088N	FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1088										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGGTGGTCGACCTCATGTC	0.542													G|||	9	0.00179712	0.0068	0.0	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0					ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3262-3264)Gac>Aac		family with sequence similarity 193, member A		G	ASN/ASP	27,4379	33.5+/-64.1	0,27,2176	49	47	48		3262	4.9	0	4	dbSNP_134	48	0,8600		0,0,4300	yes	missense	FAM193A	NM_003704.3	23	0,27,6476	AA,AG,GG		0.0,0.6128,0.2076	possibly-damaging	1088/1225	2702034	27,12979	2203	4300	6503	SO:0001583	missense	8603							g.chr4:2702034G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3262G>A	4.37:g.2702034G>A	ENSP00000324587:p.Asp1088Asn					FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N	p.D1088N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3613	+			1088					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.3262G>A	CCDS58875.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.038	0.988898	0.18966	0.006128	0.0	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;1.43	5.7	4.86	0.63082	.	0.487155	0.22559	N	0.058494	T	0.22360	0.0539	L	0.36672	1.1	0.09310	N	1	B;B;P;B;B	0.49253	0.012;0.012;0.921;0.012;0.012	B;B;B;B;B	0.35971	0.005;0.005;0.215;0.005;0.005	T	0.08411	-1.0723	10	0.28530	T	0.3	-8.008	13.732	0.62794	0.0736:0.0:0.9264:0.0	.	1088;1110;1088;1110;1088	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	1088;1088;1088;1110;942	ENSP00000372290:D1088N;ENSP00000324587:D1088N;ENSP00000443617:D1088N;ENSP00000427505:D1110N;ENSP00000427260:D942N	ENSP00000324587:D1088N	D	+	1	0	FAM193A	2671832	1.000000	0.71417	0.024000	0.17045	0.022000	0.10575	5.299000	0.65716	1.425000	0.47237	0.655000	0.94253	GAC		0.542	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		12	110	0	0	0	1	0	12	110					A	2702034	G	A	2702034	3	1	11	1	0	0	0	0	1	0	0	0	5545	1058	37	1	3320	1	FAM193A	4	2702034	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		2702034	188452242	40	1156											
DRD5	1816	broad.mit.edu	37	chr4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcgctgctggtcatGccctggaaggcagtcgccga	15	12	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGCTGGTCATGCCCTGGAAGG	0.637																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(283-285)atG>atA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783938G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.285G>A	4.37:g.9783938G>A	ENSP00000306129:p.Met95Ile						p.M95I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	681	+			95					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.285G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389198	0.82902	.	.	ENSG00000169676	ENST00000304374	T	0.73363	-0.74	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.72118	2.19	0.80722	D	1	B	0.27068	0.167	B	0.29942	0.109	T	0.76929	-0.2777	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	95	P21918	DRD5_HUMAN	I	95	ENSP00000306129:M95I	ENSP00000306129:M95I	M	+	3	0	DRD5	9393036	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	ATG		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	219	0	0	0	1	0	5	219					A	9783938	G	A	9783938	3	1	11	1	0	0	0	0	1	0	0	0	4776	1319	46	2	287	2	DRD5	4	9783938	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	7081904	9783938	181370338	41	1157											
SLC34A2	10568	broad.mit.edu	37	chr4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-													caccggctgcttccagatgcGctgctgctgctgctgccgcg							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.64	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		7	228						7	228	---	---	---	---	-	25678150	GCT	-	25678148	7	5	11	1	0	1	0	1	0	0	0	0	14618	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCT	TCGA-2J-AABO-01A-21D-A40W-08	15894210	25678148	165476128	42	1158											
POLR2B	5431	broad.mit.edu	37	chr4	57871882	57871882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcttgcattcttatttaGagggtaaggaattacagaat	10	5	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:57871882G>A	ENST00000381227.1	+	10	1627	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|RNU6-998P_ENST00000515894.1_RNA|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	405					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCTTATTTAGAGGGTAAGGA	0.413																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1213-1215)aGa>aAa		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							88	88	88					4																	57871882		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57871882G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1214G>A	4.37:g.57871882G>A	ENSP00000370625:p.Arg405Lys					POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K	p.R405K			P30876	RPB2_HUMAN			10	1627	+	Glioma(25;0.08)|all_neural(26;0.181)		405					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1214G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444758	0.96187	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.46	5.46	0.80206	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89062	0.3463	10	0.54805	T	0.06	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	330;405	C9J4M6;P30876	.;RPB2_HUMAN	K	405;330;398;405	ENSP00000370625:R405K;ENSP00000391096:R330K;ENSP00000391452:R398K;ENSP00000312735:R405K	ENSP00000312735:R405K	R	+	2	0	POLR2B	57566639	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.779000	0.85648	2.724000	0.93272	0.650000	0.86243	AGA		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		42	276	0	0	0	1	0	42	276					A	57871882	G	A	57871882	3	1	11	1	0	0	0	0	1	0	0	0	12257	942	33	2	1248	2	POLR2B	4	57871882	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	32193734	57871882	133282394	43	1159											
LIN54	132660	broad.mit.edu	37	chr4	83905426	83905426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaggtttcacctctggcCtccctccaatggtaactact	7	14	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:83905426C>A	ENST00000340417.3	-	2	949	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	191					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCTGGCCTCCCTCCAAT	0.478																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(571-573)aGg>aTg		lin-54 homolog (C. elegans)							121	117	119					4																	83905426		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905426C>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.572G>T	4.37:g.83905426C>A	ENSP00000341947:p.Arg191Met					LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M	p.R191M	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	949	-		Hepatocellular(203;0.114)	191					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.572G>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720858	0.68959	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.62	4.78	0.61160	.	0.149254	0.56097	D	0.000025	T	0.50034	0.1592	L	0.27053	0.805	0.58432	D	0.999993	D;P	0.54207	0.965;0.94	P;B	0.50192	0.634;0.431	T	0.55891	-0.8069	9	0.72032	D	0.01	-14.2655	14.7713	0.69681	0.0:0.9303:0.0:0.0697	.	191;191	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	M	191	.	ENSP00000341947:R191M	R	-	2	0	LIN54	84124450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.707000	0.74654	1.507000	0.48752	0.655000	0.94253	AGG		0.478	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		54	393	1	0	4.88482e-21	1	5.2353e-21	54	393					A	83905426	C	A	83905426	3	1	11	1	0	0	0	0	1	0	0	0	8842	681	24	3	1725	3	LIN54	4	83905426	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	26033544	83905426	107248850	44	1160											
EGF	1950	broad.mit.edu	37	chr4	110880564	110880564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgtgtgcagagggatacgCcctaagtcgagaccggaagt	14	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:110880564C>G	ENST00000265171.5	+	6	1482	c.1037C>G	c.(1036-1038)gCc>gGc	p.A346G	EGF_ENST00000503392.1_Missense_Mutation_p.A346G|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAGGGATACGCCCTAAGTCGA	0.498																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1036-1038)gCc>gGc		epidermal growth factor	Sulindac(DB00605)						146	115	125					4																	110880564		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110880564C>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1037C>G	4.37:g.110880564C>G	ENSP00000265171:p.Ala346Gly					EGF_ENST00000503392.1_Missense_Mutation_p.A346G|EGF_ENST00000509793.1_Intron	p.A346G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	6	1482	+		Hepatocellular(203;0.0893)	346			EGF-like 1.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1037C>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853597	0.32791	.	.	ENSG00000138798	ENST00000265171;ENST00000503392	D;D	0.87491	-2.26;-2.26	5.18	4.33	0.51752	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.628717	0.18234	N	0.147478	T	0.69797	0.3151	N	0.14661	0.345	0.09310	N	1	P;P	0.41041	0.554;0.736	B;B	0.33196	0.159;0.159	T	0.60347	-0.7281	10	0.15952	T	0.53	.	7.5645	0.27870	0.0:0.7657:0.0:0.2343	.	346;346	E7EVD2;P01133	.;EGF_HUMAN	G	346	ENSP00000265171:A346G;ENSP00000421384:A346G	ENSP00000265171:A346G	A	+	2	0	EGF	111100013	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.849000	0.27723	2.426000	0.82243	0.655000	0.94253	GCC		0.498	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			67	271	0	0	0	1	0	67	271					G	110880564	C	G	110880564	3	3	11	1	0	0	0	0	1	0	0	0	4978	739	26	5	1059	5	EGF	4	110880564	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	26975138	110880564	80273712	45	1161											
ANK2	287	broad.mit.edu	37	chr4	114275125	114275125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagatgaacagaaaggtcGaagcaagttgcccatcagag	13	7	1	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:114275125G>A	ENST00000357077.4	+	38	5404	c.5351G>A	c.(5350-5352)cGa>cAa	p.R1784Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1784					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAAGGTCGAAGCAAGTTG	0.498																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5350-5352)cGa>cAa		ankyrin 2, neuronal							138	148	144					4																	114275125		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275125G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5351G>A	4.37:g.114275125G>A	ENSP00000349588:p.Arg1784Gln					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron	p.R1784Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5404	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1751			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5351G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124084	0.77436	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.4;-0.36	5.7	5.7	0.88788	.	0.000000	0.50627	D	0.000101	T	0.76076	0.3937	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.59595	0.716;0.86	T	0.74054	-0.3788	9	.	.	.	.	18.0216	0.89257	0.0:0.0:1.0:0.0	.	1751;1784	Q01484;Q01484-4	ANK2_HUMAN;.	Q	1784;1751	ENSP00000349588:R1784Q;ENSP00000264366:R1751Q	.	R	+	2	0	ANK2	114494574	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.512000	0.53407	2.683000	0.91414	0.655000	0.94253	CGA		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		93	702	0	0	0	1	0	93	702					A	114275125	G	A	114275125	3	1	11	1	0	0	0	0	1	0	0	0	621	1058	37	1	5566	1	ANK2	4	114275125	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	3394561	114275125	76879151	46	1162											
IL21	59067	broad.mit.edu	37	chr4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcattctaatcatgtggCgatcttgaccttgggagctt	11	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(100-102)cGc>cAc		interleukin 21							139	133	135					4																	123542066		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542066C>T	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.101G>A	4.37:g.123542066C>T	ENSP00000264497:p.Arg34His					IL21-AS1_ENST00000417927.1_RNA	p.R34H	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	158	-			27					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.101G>A	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025754	0.35701	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.1	3.33	0.38152	.	0.278577	0.26092	N	0.026394	T	0.42988	0.1227	L	0.47716	1.5	0.32156	N	0.583601	B;B	0.14438	0.008;0.01	B;B	0.16289	0.009;0.015	T	0.48854	-0.8998	9	0.51188	T	0.08	-2.2109	8.1174	0.30950	0.1657:0.7506:0.0:0.0838	.	27;27	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	H	34	.	ENSP00000264497:R34H	R	-	2	0	IL21	123761516	0.000000	0.05858	0.925000	0.36789	0.899000	0.52679	0.295000	0.19065	0.683000	0.31428	0.655000	0.94253	CGC		0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		40	379	0	0	0	1	0	40	379					T	123542066	C	T	123542066	3	4	11	1	0	0	0	0	1	0	0	0	7700	768	27	1	407	1	IL21	4	123542066	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9266941	123542066	67612210	47	1163											
MAML3	55534	broad.mit.edu	37	chr4	140810661	140810661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgctgttgctgctgctg	14	11	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000398940.1_Silent_p.Q171Q|MAML3_ENST00000327122.5_Silent_p.Q487Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1927-1929)caG>caA		mastermind-like 3 (Drosophila)							46	58	54					4																	140810661		2196	4300	6496	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810661C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1929G>A	4.37:g.140810661C>T						MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	p.Q643Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2785	-	all_hematologic(180;0.162)		639			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1929G>A	CCDS54805.1																																																																																				0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	202	0	0	0	1	0	5	202					T	140810661	C	T	140810661	2	4	11	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140810661	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	17268595	140810661	50343615	48	1164											
TBC1D9	23158	broad.mit.edu	37	chr4	141543566	141543566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccggggcagtgccgccgtgCcctggccgctccgcaccagg	15	18	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:141543566C>A	ENST00000442267.2	-	21	3658	c.3584G>T	c.(3583-3585)gGc>gTc	p.G1195V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1195							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCGCCGTGCCCTGGCCGCT	0.662																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3583-3585)gGc>gTc		TBC1 domain family, member 9 (with GRAM domain)							30	35	33					4																	141543566		2099	4197	6296	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543566C>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3584G>T	4.37:g.141543566C>A	ENSP00000411197:p.Gly1195Val						p.G1195V	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3658	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1195					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3584G>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113280	0.37339	.	.	ENSG00000109436	ENST00000442267	T	0.26957	1.7	5.01	5.01	0.66863	.	0.419120	0.26951	N	0.021662	T	0.21509	0.0518	L	0.53249	1.67	0.58432	D	0.999999	B	0.30763	0.294	B	0.24974	0.057	T	0.03739	-1.1008	10	0.23302	T	0.38	.	9.4508	0.38725	0.0:0.9038:0.0:0.0962	.	1195	Q6ZT07	TBCD9_HUMAN	V	1195	ENSP00000411197:G1195V	ENSP00000411197:G1195V	G	-	2	0	TBC1D9	141763016	0.014000	0.17966	0.914000	0.36105	0.931000	0.56810	0.503000	0.22610	2.319000	0.78375	0.655000	0.94253	GGC		0.662	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		9	88	1	0	2.17888e-05	1	2.26414e-05	9	88					A	141543566	C	A	141543566	3	1	11	1	0	0	0	0	1	0	0	0	15679	739	26	3	220	3	TBC1D9	4	141543566	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	732905	141543566	49610710	49	1165											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	9	4	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Missense(2)	p.V205I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(613-615)Gtc>Atc		ADAM metallopeptidase domain 29							86	87	87					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				7	291	0	0	0	1	0	7	291					A	175897289	G	A	175897289	3	1	11	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	34353723	175897289	15256987	50	1166											
PRDM9	56979	broad.mit.edu	37	chr5	23526988	23526988	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtcagtcctcctcacTcaccagaggacacacacagg	9	15	3	1	rs199546146	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:23526988T>A	ENST00000296682.3	+	11	1973	c.1791T>A	c.(1789-1791)acT>acA	p.T597T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	597					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1789-1791)acT>acA		PR domain containing 9							36	40	39					5																	23526988		2096	4209	6305	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526988T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1791T>A	5.37:g.23526988T>A		HNSCC(3;0.000094)					p.T597T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1973	+			597					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1791T>A	CCDS43307.1																																																																																				0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	380	0	0	0	1	0	5	380					A	23526988	T	A	23526988	2	1	11	1	0	0	0	0	0	0	0	1	12510	1538	54	5		5	PRDM9	5	23526988	Silent	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		23526988	157388272	51	1167											
HMGCR	3156	broad.mit.edu	37	chr5	74650940	74650941	+	Frame_Shift_Ins	INS	-	-	G													ccatccctgttggagtggcaINSggacccctttgcttagatga							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:74650940_74650941insG	ENST00000287936.4	+	13	1779_1780	c.1623_1624insG	c.(1624-1626)ggafs	p.G542fs	HMGCR_ENST00000511206.1_Frame_Shift_Ins_p.G542fs|HMGCR_ENST00000343975.5_Intron	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	542	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGGAGTGGCAGGACCCCTTTG	0.436																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1621-1626)gcgaccfs		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)		,	54,16,4196		0,0,54,0,16,2063					,	-2	1			97	80,53,8121		0,0,80,0,53,3994	no	intron,codingComplex	HMGCR	NM_001130996.1,NM_000859.2	,	0,0,134,0,69,6057	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6113,1.6409,1.6214	,	,		134,69,12317				SO:0001589	frameshift_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74650940_74650941insG		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1625dupG	5.37:g.74650942_74650942dupG	ENSP00000287936:p.Gly542fs					HMGCR_ENST00000343975.5_Intron|HMGCR_ENST00000511206.1_Frame_Shift_Ins_p.T542fs	p.T542fs	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	13	1779_1780	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	542			Catalytic.		B7Z3Y9|Q8N190	Frame_Shift_Ins	INS	ENST00000287936.4	37	c.1623_1624insG	CCDS4027.1																																																																																				0.436	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			7	509						7	509	---	---	---	---	G	74650941	-	G	74650940	7	5	11	1	0	1	1	0	0	0	0	0	7261	175	7	0	1669	0	HMGCR	5	74650940	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	51123952	74650940	106264320	52	1168											
MCTP1	79772	broad.mit.edu	37	chr5	94114845	94114845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcttcttcttcctcGtcctctagcatgtcctccac	4	16	5	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:94114845G>A	ENST00000515393.1	-	19	2579	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	MCTP1_ENST00000312216.8_Silent_p.D639D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	860					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTTCCTCGTCCTCTAGCA	0.423																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2578-2580)gaC>gaT		multiple C2 domains, transmembrane 1							178	143	155					5																	94114845		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94114845G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2580C>T	5.37:g.94114845G>A						MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Silent_p.D639D	p.D860D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	19	2579	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	860					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.2580C>T	CCDS34203.1																																																																																				0.423	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		75	274	0	0	0	1	0	75	274					A	94114845	G	A	94114845	2	1	11	1	0	0	0	0	0	0	0	1	9441	1136	40	1		1	MCTP1	5	94114845	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	19463905	94114845	86800415	53	1169											
DCP2	167227	broad.mit.edu	37	chr5	112337346	112337346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaactggtagcacgccgGctaaacccactgtggaaaaa	9	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:112337346G>A	ENST00000389063.2	+	7	979	c.781G>A	c.(781-783)Gct>Act	p.A261T	DCP2_ENST00000515408.1_Missense_Mutation_p.A261T|DCP2_ENST00000543319.1_Missense_Mutation_p.A50T	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAGCACGCCGGCTAAACCCAC	0.373																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(781-783)Gct>Act		decapping mRNA 2							132	143	139					5																	112337346		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112337346G>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.781G>A	5.37:g.112337346G>A	ENSP00000373715:p.Ala261Thr					DCP2_ENST00000543319.1_Missense_Mutation_p.A50T|DCP2_ENST00000515408.1_Missense_Mutation_p.A261T	p.A261T	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	7	979	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	261					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.781G>A	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.879558|2.879558	0.51801|0.51801	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.44881|.	0.92;0.91|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.344652|.	0.32736|.	N|.	0.005702|.	T|T	0.42245|0.42245	0.1194|0.1194	N|N	0.19112|0.19112	0.55|0.55	0.36717|0.36717	D|D	0.88097|0.88097	B;B|.	0.23442|.	0.082;0.085|.	B;B|.	0.25140|.	0.058;0.026|.	T|T	0.45948|0.45948	-0.9226|-0.9226	10|5	0.22109|.	T|.	0.4|.	-9.3311|-9.3311	9.7626|9.7626	0.40541|0.40541	0.0:0.1224:0.6305:0.2471|0.0:0.1224:0.6305:0.2471	.|.	261;261|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	T|D	261;261;50|242	ENSP00000425770:A261T;ENSP00000373715:A261T|.	ENSP00000373715:A261T|.	A|G	+|+	1|2	0|0	DCP2|DCP2	112365245|112365245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.265000|1.265000	0.33027|0.33027	2.727000|2.727000	0.93392|0.93392	0.643000|0.643000	0.83706|0.83706	GCT|GGC		0.373	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		7	774	0	0	0	1	0	7	774					A	112337346	G	A	112337346	3	1	11	1	0	0	0	0	1	0	0	0	4311	1203	42	2	807	2	DCP2	5	112337346	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	18222501	112337346	68577914	54	1170											
FTMT	94033	broad.mit.edu	37	chr5	121188321	121188321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtgaagatgggggccccGgatgctggcctggcggagta	18	8	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:121188321G>A	ENST00000321339.1	+	1	672	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	221					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGGGGCCCCGGATGCTGGCC	0.502																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(661-663)ccG>ccA		ferritin mitochondrial							103	116	112					5																	121188321		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188321G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.663G>A	5.37:g.121188321G>A							p.P221P	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	672	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	221						Silent	SNP	ENST00000321339.1	37	c.663G>A	CCDS4128.1																																																																																				0.502	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		8	650	0	0	0	1	0	8	650					A	121188321	G	A	121188321	2	1	11	1	0	0	0	0	0	0	0	1	6112	1103	39	1		1	FTMT	5	121188321	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	8850975	121188321	59726939	55	1171											
CSNK1G3	1456	broad.mit.edu	37	chr5	122923840	122923840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtcttccttggcaagGcttaaaggtaattgtttttg	11	6	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:122923840G>A	ENST00000361991.2	+	6	782	c.752G>A	c.(751-753)gGc>gAc	p.G251D	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCTTGGCAAGGCTTAAAGGTA	0.284																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(751-753)gGc>gAc		casein kinase 1, gamma 3							133	135	134					5																	122923840		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122923840G>A	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.752G>A	5.37:g.122923840G>A	ENSP00000354942:p.Gly251Asp					CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D	p.G251D	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	7	1471	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	251			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.752G>A	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363004	0.82353	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.15	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.37433	0.1003	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D;D	0.71674	0.994;0.994;0.994;0.992;0.998;0.997	D;D;D;D;D;D	0.80764	0.976;0.99;0.976;0.945;0.994;0.976	T	0.45644	-0.9247	10	0.87932	D	0	.	15.5399	0.76035	0.0:0.0:0.8604:0.1396	.	176;251;138;251;251;251	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	D	251;251;251;138;176;251;251;251;251	ENSP00000378807:G251D;ENSP00000378806:G251D;ENSP00000334735:G251D;ENSP00000421385:G138D;ENSP00000421998:G176D;ENSP00000429412:G251D;ENSP00000423838:G251D;ENSP00000354942:G251D;ENSP00000353904:G251D	ENSP00000334735:G251D	G	+	2	0	CSNK1G3	122951739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	1.468000	0.48064	0.650000	0.86243	GGC		0.284	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		42	374	0	0	0	1	0	42	374					A	122923840	G	A	122923840	3	1	11	1	0	0	0	0	1	0	0	0	3967	1203	42	2	774	2	CSNK1G3	5	122923840	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1735519	122923840	57991420	56	1172											
FSTL4	23105	broad.mit.edu	37	chr5	132559896	132559896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccttcctctcgccacAggatgtttgcaactgcagca	9	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:132559896A>G	ENST00000265342.7	-	11	1574	c.1325T>C	c.(1324-1326)cTg>cCg	p.L442P	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_Intron	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	442						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGCCACAGGATGTTTGC	0.483																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1324-1326)cTg>cCg		follistatin-like 4							163	126	138					5																	132559896		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132559896A>G	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1325T>C	5.37:g.132559896A>G	ENSP00000265342:p.Leu442Pro					CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_Intron|CTB-49A3.2_ENST00000509051.1_RNA	p.L442P	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1574	-		all_cancers(142;0.244)	442					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1325T>C	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623789	0.87460	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.62498	0.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76313	-0.3005	10	0.49607	T	0.09	-21.8211	15.5635	0.76269	1.0:0.0:0.0:0.0	.	442	Q6MZW2	FSTL4_HUMAN	P	442;273	ENSP00000265342:L442P	ENSP00000265342:L442P	L	-	2	0	FSTL4	132587795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.800000	0.91900	2.326000	0.78906	0.533000	0.62120	CTG		0.483	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	128	0	0	0	1	0	10	128					G	132559896	A	G	132559896	3	3	11	1	0	0	0	0	1	0	0	0	6106	188	7	4	1227	4	FSTL4	5	132559896	Missense_Mutation	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	9636056	132559896	48355364	57	1173											
PCDHA9	9752	broad.mit.edu	37	chr5	140230590	140230590	+	Intron	DEL	T	T	-													ttttctagaaatccagcagaTtttttttctgataaagtaaa					rs17844337		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ATCCAGCAGATTTTTTTTCTG	0.279																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(2509-2511)atfs									66	77	74					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	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.2394+116T>-	5.37:g.140230590delT						PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		10	1631						10	1631	---	---	---	---	-	140230590	T	-	140230590	6	5	11	0	1	1	0	1	0	0	0	0	11573	1493	52	0		0	PCDHA9	5	140230590	Intron	DEL	T	TCGA-2J-AABO-01A-21D-A40W-08	7670694	140230590	40684670	58	1174											
ABCC10	89845	broad.mit.edu	37	chr6	43406443	43406443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggatccagtttgccacCatccgagacaacatcctctt	6	16	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:43406443C>T	ENST00000372530.4	+	8	2252	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	ABCC10_ENST00000244533.3_Silent_p.T651T	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	679	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGTTTGCCACCATCCGAGACA	0.592																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1951-1953)acC>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							122	112	115					6																	43406443		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406443C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2037C>T	6.37:g.43406443C>T						ABCC10_ENST00000372530.4_Silent_p.T679T	p.T651T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	2312	+	all_lung(25;0.00536)		679			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.1953C>T	CCDS56430.1																																																																																				0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		36	313	0	0	0	1	0	36	313					T	43406443	C	T	43406443	2	4	11	1	0	0	0	0	0	0	0	1	50	581	21	2		2	ABCC10	6	43406443	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		43406443	127708624	59	1175											
BCLAF1	9774	broad.mit.edu	37	chr6	136590607	136590607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagatttgtattccttgtaAtcttttggagttttttcctg	7	5	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:136590607A>G	ENST00000531224.1	-	9	2439	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000527536.1_Silent_p.D729D|BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2185-2187)gaT>gaC		BCL2-associated transcription factor 1							110	105	106					6																	136590607		2203	4299	6502	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590607A>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2187T>C	6.37:g.136590607A>G						BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000527536.1_Silent_p.D729D|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000529917.1_5'UTR	p.D729D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2439	-	Colorectal(23;0.24)		729					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2187T>C	CCDS5177.1																																																																																				0.363	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	321	0	0	0	1	0	7	321					G	136590607	A	G	136590607	2	3	11	1	0	0	0	0	0	0	0	1	1384	98	4	4		4	BCLAF1	6	136590607	Silent	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	93184164	136590607	34524460	60	1176											
RBAK	57786	broad.mit.edu	37	chr7	5104238	5104238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaatccttctcccGcaagtctgctctcagtgacc	9	13	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:5104238G>A	ENST00000353796.3	+	6	1475	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.R384H|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	384					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCTTCTCCCGCAAGTCTGCT	0.463																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1150-1152)cGc>cAc		RB-associated KRAB zinc finger							114	114	114					7																	5104238		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104238G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1151G>A	7.37:g.5104238G>A	ENSP00000275423:p.Arg384His					RBAK_ENST00000353796.3_Missense_Mutation_p.R384H|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	p.R384H	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1670	+		Ovarian(82;0.0175)	384					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1151G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115033	0.37339	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07327	3.2;3.2	3.76	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144730	0.33753	N	0.004596	T	0.09774	0.0240	N	0.11673	0.155	0.29214	N	0.874362	D	0.89917	1.0	D	0.80764	0.994	T	0.24225	-1.0166	8	.	.	.	.	6.3223	0.21225	0.226:0.0:0.774:0.0	.	384	Q9NYW8	RBAK_HUMAN	H	384	ENSP00000275423:R384H;ENSP00000380120:R384H	.	R	+	2	0	RBAK	5070764	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.343000	0.07791	1.154000	0.42482	0.555000	0.69702	CGC		0.463	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		6	619	0	0	0	1	0	6	619					A	5104238	G	A	5104238	3	1	11	1	0	0	0	0	1	0	0	0	13150	1087	38	1	1165	1	RBAK	7	5104238	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		5104238	154034425	61	1177											
C7orf42	55069	broad.mit.edu	37	chr7	66410199	66410199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggagggtattcccgcaaCgtcacccatctgtactcaac	8	14	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:66410199C>T	ENST00000341567.4	+	3	651	c.396C>T	c.(394-396)aaC>aaT	p.N132N		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	132						integral component of membrane (GO:0016021)											ATTCCCGCAACGTCACCCATC	0.547																																						ENST00000341567.4																			0											c.(394-396)aaC>aaT		transmembrane protein 248							105	103	104					7																	66410199		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66410199C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.396C>T	7.37:g.66410199C>T							p.N132N	NM_017994.4	NP_060464.1					3	651	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.396C>T	CCDS5536.1																																																																																				0.547	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		26	494	0	0	0	1	0	26	494					T	66410199	C	T	66410199	2	4	11	1	0	0	0	0	0	0	0	1	2399	535	19	1		1	C7orf42	7	66410199	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	61305961	66410199	92728464	62	1178											
NOS3	4846	broad.mit.edu	37	chr7	150698985	150698985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacaatcctgtatggctccGagaccggccgggcccagagc	13	15	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:150698985G>A	ENST00000484524.1	+	12	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOS3_ENST00000297494.3_Missense_Mutation_p.E527K|NOS3_ENST00000461406.1_Missense_Mutation_p.E321K|NOS3_ENST00000467517.1_Missense_Mutation_p.E527K	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTATGGCTCCGAGACCGGCCG	0.652																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1579-1581)Gag>Aag		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						46	48	48					7																	150698985		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698985G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1579G>A	7.37:g.150698985G>A	ENSP00000420215:p.Glu527Lys					NOS3_ENST00000461406.1_Missense_Mutation_p.E321K|NOS3_ENST00000467517.1_Missense_Mutation_p.E527K|NOS3_ENST00000484524.1_Missense_Mutation_p.E527K	p.E527K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1936	+	all_neural(206;0.219)		527			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1579G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388389	0.82902	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.56097	D	0.000038	D	0.89434	0.6714	M	0.93898	3.47	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.987;0.987;0.994;1.0;0.998	D	0.92206	0.5772	10	0.87932	D	0	-6.0588	15.7394	0.77876	0.0:0.0:1.0:0.0	.	527;527;527;321;527	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	K	527;321;527;527	ENSP00000297494:E527K;ENSP00000417143:E321K;ENSP00000420215:E527K;ENSP00000420551:E527K	ENSP00000297494:E527K	E	+	1	0	NOS3	150329918	1.000000	0.71417	0.940000	0.37924	0.308000	0.27856	9.261000	0.95576	2.376000	0.81061	0.655000	0.94253	GAG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		68	241	0	0	0	1	0	68	241					A	150698985	G	A	150698985	3	1	11	1	0	0	0	0	1	0	0	0	10586	1059	37	1	1625	1	NOS3	7	150698985	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	84288786	150698985	8439678	63	1179											
MOS	4342	broad.mit.edu	37	chr8	57026538	57026538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagggccaggggcgaggGcatcgcactttgcaggggga	20	9	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:57026538G>A	ENST00000311923.1	-	1	3	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	2					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGGGCGAGGGCATCGCACTT	0.632																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(4-6)Ccc>Tcc		v-mos Moloney murine sarcoma viral oncogene homolog							12	15	14					8																	57026538		2171	4250	6421	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026538G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.4C>T	8.37:g.57026538G>A	ENSP00000310722:p.Pro2Ser						p.P2S	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	3	-			2					Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.4C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845672	0.71603	.	.	ENSG00000172680	ENST00000311923	D	0.82081	-1.57	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000001	D	0.90940	0.7152	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92023	0.5627	10	0.87932	D	0	.	18.222	0.89904	0.0:0.0:1.0:0.0	.	2	P00540	MOS_HUMAN	S	2	ENSP00000310722:P2S	ENSP00000310722:P2S	P	-	1	0	MOS	57189092	1.000000	0.71417	0.998000	0.56505	0.094000	0.18550	9.169000	0.94788	2.387000	0.81309	0.557000	0.71058	CCC		0.632	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		6	97	0	0	0	1	0	6	97					A	57026538	G	A	57026538	3	1	11	1	0	0	0	0	1	0	0	0	9753	1203	42	2	1039	2	MOS	8	57026538	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		57026538	89337484	64	1180											
GABBR2	9568	broad.mit.edu	37	chr9	101216358	101216358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggatccgctggtgccGgctgctggcatgcagtgtct	15	12	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:101216358G>A	ENST00000259455.2	-	7	1600	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	381					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.R381W(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCTGGTGCCGGCTGCTGGCA	0.607																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	1	Substitution - Missense(1)	p.R381W(1)	breast(1)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1141-1143)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						159	133	142					9																	101216358		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216358G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1141C>T	9.37:g.101216358G>A	ENSP00000259455:p.Arg381Trp						p.R381W	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			7	1600	-		Acute lymphoblastic leukemia(62;0.0527)	381					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1141C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886305	0.72410	.	.	ENSG00000136928	ENST00000259455	D	0.83914	-1.78	5.79	3.75	0.43078	Extracellular ligand-binding receptor (1);	0.196584	0.45361	D	0.000367	D	0.84977	0.5592	L	0.46157	1.445	0.53005	D	0.99996	D	0.69078	0.997	P	0.58077	0.832	D	0.86335	0.1701	10	0.87932	D	0	.	12.3524	0.55155	0.0:0.0:0.6388:0.3612	.	381	O75899	GABR2_HUMAN	W	381	ENSP00000259455:R381W	ENSP00000259455:R381W	R	-	1	2	GABBR2	100256179	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.287000	0.33284	1.400000	0.46741	0.650000	0.86243	CGG		0.607	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			32	201	0	0	0	1	0	32	201					A	101216358	G	A	101216358	3	1	11	1	0	0	0	0	1	0	0	0	6183	1115	39	1	1736	1	GABBR2	9	101216358	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		101216358	39997073	65	1181											
DDX31	64794	broad.mit.edu	37	chr9	135523898	135523898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttatatgatccaccaggcGtccaggagttgagataagga	11	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:135523898G>A	ENST00000372159.3	-	10	1247	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	DDX31_ENST00000438527.3_Missense_Mutation_p.R237C|DDX31_ENST00000372153.1_Missense_Mutation_p.R366C|DDX31_ENST00000310532.2_Missense_Mutation_p.R366C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	366	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCCACCAGGCGTCCAGGAGTT	0.413																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1096-1098)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							109	115	113					9																	135523898		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135523898G>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1096C>T	9.37:g.135523898G>A	ENSP00000361232:p.Arg366Cys					DDX31_ENST00000310532.2_Missense_Mutation_p.R366C|DDX31_ENST00000438527.3_Missense_Mutation_p.R237C|DDX31_ENST00000372153.1_Missense_Mutation_p.R366C	p.R366C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	10	1247	-			366			Helicase ATP-binding.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1096C>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672307	0.88348	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.54479	2.09;0.57;2.09;0.57	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87906	0.2694	10	0.87932	D	0	-15.9721	14.6754	0.68975	0.0:0.0:0.8551:0.1449	.	366;366	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	C	366;366;366;237;366	ENSP00000361232:R366C;ENSP00000361226:R366C;ENSP00000387730:R237C;ENSP00000310539:R366C	ENSP00000310539:R366C	R	-	1	0	DDX31	134513719	1.000000	0.71417	0.537000	0.28052	0.995000	0.86356	7.100000	0.76989	2.941000	0.99782	0.655000	0.94253	CGC		0.413	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		11	644	0	0	0	1	0	11	644					A	135523898	G	A	135523898	3	1	11	1	0	0	0	0	1	0	0	0	4367	1145	40	1	1510	1	DDX31	9	135523898	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	34307540	135523898	5689533	66	1182											
OLFM1	10439	broad.mit.edu	37	chr9	138011686	138011686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgccaccaaccagaacGctggcaacatcgtggtcagt	10	13	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138011686G>A	ENST00000371793.3	+	6	1371	c.1120G>A	c.(1120-1122)Gct>Act	p.A374T	OLFM1_ENST00000252854.4_Missense_Mutation_p.A356T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	374	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACCAGAACGCTGGCAACAT	0.627																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(1066-1068)Gct>Act		olfactomedin 1							76	58	64					9																	138011686		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011686G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1120G>A	9.37:g.138011686G>A	ENSP00000360858:p.Ala374Thr					OLFM1_ENST00000371793.3_Missense_Mutation_p.A374T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	p.A356T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1253	+		Myeloproliferative disorder(178;0.0333)	374			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.1066G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.567026	0.86439	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.88896	-2.44;-2.44;-2.44	4.79	4.79	0.61399	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93259	0.6641	10	0.66056	D	0.02	.	17.8435	0.88722	0.0:0.0:1.0:0.0	.	374;356	Q99784;Q6IMJ8	NOE1_HUMAN;.	T	356;347;374	ENSP00000252854:A356T;ENSP00000360861:A347T;ENSP00000360858:A374T	ENSP00000252854:A356T	A	+	1	0	OLFM1	137151507	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.571000	0.98176	2.214000	0.71695	0.561000	0.74099	GCT		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		21	125	0	0	0	1	0	21	125					A	138011686	G	A	138011686	3	1	11	1	0	0	0	0	1	0	0	0	10894	1087	38	1	1098	1	OLFM1	9	138011686	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	2487788	138011686	3201745	67	1183											
KCNT1	57582	broad.mit.edu	37	chr9	138670646	138670646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggacgccaagaccatcGtcaacgtgcagaccatgttc	11	13	1	2	rs372824034		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138670646G>A	ENST00000263604.3	+	23	2650	c.2650G>A	c.(2650-2652)Gtc>Atc	p.V884I	KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V903I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	884					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGACCATCGTCAACGTGCA	0.637																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2707-2709)Gtc>Atc		potassium channel, subfamily T, member 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	165	121	136		2707	4.5	1	9		136	0,8600		0,0,4300	no	missense	KCNT1	NM_020822.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	903/1236	138670646	1,13005	2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138670646G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2650G>A	9.37:g.138670646G>A	ENSP00000263604:p.Val884Ile					KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V884I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I	p.V903I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	23	2781	+		Myeloproliferative disorder(178;0.0821)	903					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471882	0.84533	2.27E-4	0.0	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.5	4.5	0.54988	.	0.000000	0.64402	U	0.000001	D	0.84243	0.5429	L	0.45581	1.43	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.989;0.994;0.989	D;P;P;P	0.85130	0.997;0.652;0.677;0.578	D	0.83797	0.0234	10	0.37606	T	0.19	-40.5009	17.1945	0.86888	0.0:0.0:1.0:0.0	.	870;903;858;884	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	I	858;903;903;862;870;884;882;884	ENSP00000417851:V858I;ENSP00000298480:V903I;ENSP00000360822:V903I;ENSP00000263604:V884I	ENSP00000263604:V884I	V	+	1	0	KCNT1	137810467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.563000	0.98148	2.024000	0.59613	0.557000	0.71058	GTC		0.637	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		20	171	0	0	0	1	0	20	171					A	138670646	G	A	138670646	3	1	11	1	0	0	0	0	1	0	0	0	8121	1145	40	1	2797	1	KCNT1	9	138670646	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	658960	138670646	2542785	68	1184											
ADARB2	105	broad.mit.edu	37	chr10	1406022	1406022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcttcgcgccgggcGcgccgccccgggcccggtcc	14	21	1	0	rs368485422		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:1406022G>A	ENST00000381312.1	-	3	603	c.278C>T	c.(277-279)gCg>gTg	p.A93V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	93					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)			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)		cgcgccgggcgcgccgccccg	0.726																																						ENST00000381312.1																			0				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						c.(277-279)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)			VAL/ALA	0,4140		0,0,2070	6	7	7		278	2.8	0	10		7	1,8301		0,1,4150	no	missense	ADARB2	NM_018702.3	64	0,1,6220	AA,AG,GG		0.012,0.0,0.0080	benign	93/740	1406022	1,12441	2070	4151	6221	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1406022G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.278C>T	10.37:g.1406022G>A	ENSP00000370713:p.Ala93Val						p.A93V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	603	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	93					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.278C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	5.998	0.367978	0.11352	0.0	1.2E-4	ENSG00000185736	ENST00000381312	T	0.24350	1.86	4.69	2.84	0.33178	.	1.304660	0.04734	N	0.421667	T	0.19886	0.0478	N	0.19112	0.55	0.25308	N	0.989223	B	0.15141	0.012	B	0.09377	0.004	T	0.29640	-1.0005	10	0.38643	T	0.18	-0.0474	10.0945	0.42466	0.0756:0.1376:0.7868:0.0	.	93	Q9NS39	RED2_HUMAN	V	93	ENSP00000370713:A93V	ENSP00000370713:A93V	A	-	2	0	ADARB2	1396022	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.487000	0.35540	0.418000	0.25898	-0.375000	0.07067	GCG		0.726	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		13	38	0	0	0	1	0	13	38					A	1406022	G	A	1406022	3	1	11	1	0	0	0	0	1	0	0	0	283	1087	38	1	1973	1	ADARB2	10	1406022	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		1406022	134128725	69	1185											
TAF3	83860	broad.mit.edu	37	chr10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacaccttcaaatatgCcccccaactttccttatatc	4	14	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1456-1458)Ccc>Tcc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							104	103	103					10																	8006929		1926	4123	6049	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006929C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1456C>T	10.37:g.8006929C>T	ENSP00000340271:p.Pro486Ser						p.P486S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1662	+			486					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1456C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223998	0.39300	.	.	ENSG00000165632	ENST00000344293	T	0.34859	1.34	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.53594	0.1806	M	0.80183	2.485	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.56836	-0.7913	10	0.33940	T	0.23	-14.7526	14.6258	0.68621	0.0:0.93:0.0:0.07	.	486	Q5VWG9	TAF3_HUMAN	S	486	ENSP00000340271:P486S	ENSP00000340271:P486S	P	+	1	0	TAF3	8046935	1.000000	0.71417	0.983000	0.44433	0.035000	0.12851	4.211000	0.58507	1.389000	0.46526	0.650000	0.86243	CCC		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		6	620	0	0	0	1	0	6	620					T	8006929	C	T	8006929	3	4	11	1	0	0	0	0	1	0	0	0	15577	739	26	2	1466	2	TAF3	10	8006929	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	6600907	8006929	127527818	70	1186											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431019	37431019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagggaaattatgagtccCgcaaaagaaacatctgagaa	9	8	1	3	rs199969776		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:37431019C>T	ENST00000602533.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000361713.1_Silent_p.P342P|ANKRD30A_ENST00000374660.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTATGAGTCCCGCAAAAGAAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1024-1026)ccC>ccT		ankyrin repeat domain 30A							107	105	106					10																	37431019		1830	4085	5915	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431019C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1026C>T	10.37:g.37431019C>T						ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P	p.P342P			Q9BXX3	AN30A_HUMAN			7	1125	+			398					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1026C>T																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	604	0	0	0	1	0	6	604					T	37431019	C	T	37431019	2	4	11	1	0	0	0	0	0	0	0	1	658	639	23	1		1	ANKRD30A	10	37431019	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	29424090	37431019	98103728	71	1187											
JMJD1C	221037	broad.mit.edu	37	chr10	64952698	64952699	+	Splice_Site	INS	-	-	T													gataatcaattatgtttaccINSttttttttcctctctggctt							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:64952698_64952699insT	ENST00000399262.2	-	16	6293_6294	c.6075_6076insA	c.(6073-6078)aaagaa>aaaAgaa	p.E2026fs	JMJD1C_ENST00000542921.1_Splice_Site_p.E1844fs|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.E1789fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2026					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTATGTTTACCTTTTTTTTCCT	0.371																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C																																				SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952698_64952699insT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1->A	10.37:g.64952706_64952706dupT						JMJD1C_ENST00000402544.1_Splice_Site_p.KK1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.KK1843_splice|JMJD1C_ENST00000399251.1_3'UTR	p.KK2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293_6294	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	INS	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.371	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Ins	7	401						7	401	---	---	---	---	T	64952699	-	T	64952698	8	5	11	1	0	1	1	0	0	0	1	0	7980	695	24	0	1590	0	JMJD1C	10	64952698	Splice_Site	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	27521679	64952698	70582049	72	1188											
SFTPA2	729238	broad.mit.edu	37	chr10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcccccttctctccacGctctccagggacaccagggg	9	19	2	0	rs150273659	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627									Pulmonary Fibrosis, Idiopathic				G|||	24	0.00479233	0.0045	0.0	5008	,	,		17841	0.0159		0.0	False		,,,				2504	0.002					ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Cgt>Tgt		surfactant protein A2		G	CYS/ARG	33,4373		0,33,2170	108	121	117		253	2.9	1	10	dbSNP_134	117	10,8582		0,10,4286	no	missense	SFTPA2	NM_001098668.2	180	0,43,6456	AA,AG,GG		0.1164,0.749,0.3308	benign	85/249	81318681	43,12955	2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81318681G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.253C>T	10.37:g.81318681G>A	ENSP00000361400:p.Arg85Cys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	337	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		85			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.253C>T	CCDS41540.1	8	0.003663003663003663	1	0.0020325203252032522	0	0.0	7	0.012237762237762238	0	0.0	N	4.066	0.009984	0.07912	0.00749	0.001164	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.94417	-3.42;-3.42;-3.42	2.87	2.87	0.33458	.	0.455646	0.20973	N	0.082360	D	0.89757	0.6807	M	0.71036	2.16	0.26410	N	0.976274	B	0.09022	0.002	B	0.04013	0.001	D	0.83885	0.0281	10	0.40728	T	0.16	-0.1951	9.5435	0.39266	0.0:0.0:1.0:0.0	.	85	E3VLC8	.	C	85;51;85;85	ENSP00000361400:R85C;ENSP00000361402:R85C;ENSP00000397375:R85C	ENSP00000361400:R85C	R	-	1	0	SFTPA2	80988687	0.000000	0.05858	0.975000	0.42487	0.012000	0.07955	-0.048000	0.11944	1.329000	0.45376	0.423000	0.28283	CGT		0.627	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		9	697	0	0	0	1	0	9	697					A	81318681	G	A	81318681	3	1	11	1	0	0	0	0	1	0	0	0	14240	1087	38	1	505	1	SFTPA2	10	81318681	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	16365983	81318681	54216066	73	1189											
ABCC2	1244	broad.mit.edu	37	chr10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgcctcagtccttgCgcagctggattacatgcttc	8	15	1	0	rs142715085	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCAGTCCTTGCGCAGCTGGAT	0.468																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.R1100C(1)	large_intestine(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3298-3300)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		CYS/ARG	0,4406		0,0,2203	274	206	229		3298	4.4	0.9	10	dbSNP_134	229	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ABCC2	NM_000392.3	180	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	1100/1546	101594176	7,12999	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101594176C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3298C>T	10.37:g.101594176C>T	ENSP00000359478:p.Arg1100Cys						p.R1100C	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3411	+		Colorectal(252;0.234)	1100			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3298C>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058211	0.55325	0.0	8.14E-4	ENSG00000023839	ENST00000370449	D	0.89681	-2.55	5.28	4.38	0.52667	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	0.95468	0.8528	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96170	0.9122	10	0.87932	D	0	-10.2227	13.8333	0.63393	0.0:0.9261:0.0:0.0739	.	1100	Q92887	MRP2_HUMAN	C	1100	ENSP00000359478:R1100C	ENSP00000359478:R1100C	R	+	1	0	ABCC2	101584166	1.000000	0.71417	0.852000	0.33557	0.053000	0.15095	4.409000	0.59768	1.228000	0.43614	0.511000	0.50034	CGC		0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		41	332	0	0	0	1	0	41	332					T	101594176	C	T	101594176	3	4	11	1	0	0	0	0	1	0	0	0	53	768	27	1	3392	1	ABCC2	10	101594176	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	20275495	101594176	33940571	74	1190											
SEMA4G	57715	broad.mit.edu	37	chr10	102743445	102743445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctgcctcatcctgGcctcctccctcctctatgtg	8	18	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:102743445G>A	ENST00000370250.4	+	14	2447	c.2074G>A	c.(2074-2076)Gcc>Acc	p.A692T	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_Missense_Mutation_p.A697T|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	692					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTCATCCTGGCCTCCTCCCT	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2089-2091)Gcc>Acc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							59	54	56					10																	102743445		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743445G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2074G>A	10.37:g.102743445G>A	ENSP00000359270:p.Ala692Thr					SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A692T|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron	p.A697T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2167	+		Colorectal(252;0.234)	692					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2089G>A		.	.	.	.	.	.	.	.	.	.	g	8.197	0.797197	0.16327	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.17054	2.3;2.37	5.53	5.53	0.82687	.	0.842932	0.11009	N	0.609640	T	0.07818	0.0196	N	0.04880	-0.145	0.30368	N	0.783125	B	0.25667	0.131	B	0.16289	0.015	T	0.16808	-1.0390	10	0.13108	T	0.6	.	8.7621	0.34680	0.0779:0.0:0.7717:0.1503	.	697	Q9NTN9-2	.	T	692;697	ENSP00000359270:A692T;ENSP00000210633:A697T	ENSP00000210633:A697T	A	+	1	0	SEMA4G	102733435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.420000	0.59841	2.613000	0.88420	0.550000	0.68814	GCC		0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			13	66	0	0	0	1	0	13	66					A	102743445	G	A	102743445	3	1	11	1	0	0	0	0	1	0	0	0	14086	1203	42	2	2143	2	SEMA4G	10	102743445	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1149269	102743445	32791302	75	1191											
IRF7	3665	broad.mit.edu	37	chr11	613572	613572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttgtacatgatggtcaCgtccagcgcccctgggctgg	13	14	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:613572C>T	ENST00000397574.2	-	9	1240	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IRF7_ENST00000525445.1_Missense_Mutation_p.V185M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000397566.1_Missense_Mutation_p.V304M|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGATGGTCACGTCCAGCGCC	0.682																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(910-912)Gtg>Atg		interferon regulatory factor 7							11	14	13					11																	613572		2069	4149	6218	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613572C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.871G>A	11.37:g.613572C>T	ENSP00000380704:p.Val291Met					IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000397574.2_Missense_Mutation_p.V291M|IRF7_ENST00000525445.1_Missense_Mutation_p.V185M	p.V304M	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1319	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	291					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.910G>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491677	0.44249	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	4.0	3.06	0.35304	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.599107	0.16746	N	0.201252	D	0.96513	0.8862	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.997	D;P;P;P	0.71870	0.975;0.78;0.835;0.847	D	0.95215	0.8329	10	0.87932	D	0	-22.3084	7.8587	0.29497	0.1718:0.738:0.0:0.0902	.	185;262;291;304	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	M	185;262;262;304;291;304	ENSP00000434009:V185M;ENSP00000331803:V262M;ENSP00000380700:V262M;ENSP00000380697:V304M;ENSP00000380704:V291M;ENSP00000329411:V304M	ENSP00000329411:V304M	V	-	1	0	IRF7	603572	0.009000	0.17119	0.994000	0.49952	0.212000	0.24457	-0.038000	0.12144	0.984000	0.38629	0.491000	0.48974	GTG		0.682	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		9	152	0	0	0	1	0	9	152					T	613572	C	T	613572	3	4	11	1	0	0	0	0	1	0	0	0	7865	536	19	1	652	1	IRF7	11	613572	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		613572	134392944	76	1192											
NLRP14	338323	broad.mit.edu	37	chr11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttctgtgtgatgtctttCggcatccaagctgtaatctt	9	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2773-2775)Cgg>Tgg		NLR family, pyrin domain containing 14							220	208	212					11																	7081264		2201	4295	6496	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081264C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2773C>T	11.37:g.7081264C>T	ENSP00000299481:p.Arg925Trp						p.R925W	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3119	+			925					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2773C>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764218	0.31228	.	.	ENSG00000158077	ENST00000299481	T	0.48522	0.81	4.5	0.00652	0.14067	.	0.764957	0.10829	N	0.629577	T	0.40979	0.1139	M	0.74546	2.27	0.09310	N	1	B	0.24721	0.11	B	0.12837	0.008	T	0.46317	-0.9200	10	0.72032	D	0.01	.	2.1725	0.03853	0.3529:0.3743:0.1721:0.1007	.	925	Q86W24	NAL14_HUMAN	W	925	ENSP00000299481:R925W	ENSP00000299481:R925W	R	+	1	2	NLRP14	7037840	0.000000	0.05858	0.002000	0.10522	0.987000	0.75469	-0.266000	0.08631	0.204000	0.20548	0.655000	0.94253	CGG		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	829	0	0	0	1	0	6	829					T	7081264	C	T	7081264	3	4	11	1	0	0	0	0	1	0	0	0	10518	875	31	1	2803	1	NLRP14	11	7081264	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	6467692	7081264	127925252	77	1193											
DENND5A	23258	broad.mit.edu	37	chr11	9192301	9192301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtatggtcaatttttgCcagacgcagctcaattgctt	9	9	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9192301C>T	ENST00000328194.3	-	9	2250	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	DENND5A_ENST00000527700.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	644					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTTTGCCAGACGCAGC	0.413																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1930-1932)Gca>Aca		DENN/MADD domain containing 5A							163	159	161					11																	9192301		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9192301C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1930G>A	11.37:g.9192301C>T	ENSP00000328524:p.Ala644Thr					DENND5A_ENST00000527700.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T	p.A644T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			9	2250	-			644					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1930G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055038	0.19907	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.03831	3.79;3.79	5.84	4.94	0.65067	.	0.422030	0.28176	N	0.016313	T	0.01976	0.0062	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.002;0.004	T	0.51180	-0.8738	10	0.13853	T	0.58	.	9.6869	0.40105	0.1404:0.7892:0.0:0.0703	.	644;644	E9PS91;Q6IQ26	.;DEN5A_HUMAN	T	644	ENSP00000328524:A644T;ENSP00000435866:A644T	ENSP00000328524:A644T	A	-	1	0	DENND5A	9148877	0.992000	0.36948	1.000000	0.80357	0.744000	0.42396	0.839000	0.27586	1.485000	0.48380	0.561000	0.74099	GCA		0.413	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	764	0	0	0	1	0	7	764					T	9192301	C	T	9192301	3	4	11	1	0	0	0	0	1	0	0	0	4452	739	26	2	1993	2	DENND5A	11	9192301	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	2111037	9192301	125814215	78	1194											
TMEM41B	440026	broad.mit.edu	37	chr11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A													ttacctagaaaagtaccaatINSaaaaaaaactttcaatggca							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)tttattfs	p.I231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACTT	0.361																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(688-693)ttttggfs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9308017_9308018insA	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.691dupT	11.37:g.9308025_9308025dupA	ENSP00000433126:p.Ile231fs					TMEM41B_ENST00000527813.1_Intron	p.W231fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	6	1028_1029	-			231					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.690_691insT	CCDS31424.1																																																																																				0.361	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			7	716						7	716	---	---	---	---	A	9308018	-	A	9308017	7	5	11	1	0	1	1	0	0	0	0	0	16217	1406	49	0	192	0	TMEM41B	11	9308017	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	115716	9308017	125698499	79	1195											
HIPK3	10114	broad.mit.edu	37	chr11	33373763	33373763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagtgggtactcgtcaGcaaaaattgacatcagcatt	9	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:33373763G>A	ENST00000303296.4	+	16	3428	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	HIPK3_ENST00000379016.3_Silent_p.Q1020Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000456517.1_Silent_p.Q1020Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1041					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTACTCGTCAGCAAAAATTGA	0.413																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3121-3123)caG>caA		homeodomain interacting protein kinase 3							161	158	159					11																	33373763		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373763G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3123G>A	11.37:g.33373763G>A						HIPK3_ENST00000456517.1_Silent_p.Q1020Q|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000379016.3_Silent_p.Q1020Q	p.Q1041Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			16	3428	+			1041					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.3123G>A	CCDS7884.1																																																																																				0.413	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	936	0	0	0	1	0	7	936					A	33373763	G	A	33373763	2	1	11	1	0	0	0	0	0	0	0	1	7148	962	34	2		2	HIPK3	11	33373763	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	24065746	33373763	101632753	80	1196											
CD44	960	broad.mit.edu	37	chr11	35218362	35218362	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaacctgggattggttttCatggttgtttctaccatcag	10	7	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:35218362C>A	ENST00000428726.2	+	6	860	c.737C>A	c.(736-738)tCa>tAa	p.S246*	CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	246	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GATTGGTTTTCATGGTTGTTT	0.383																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(736-738)tCa>tAa		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						120	104	109					11																	35218362		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35218362C>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.737C>A	11.37:g.35218362C>A	ENSP00000398632:p.Ser246*					CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron	p.S246*	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	860	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	246			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.737C>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.188320|4.188320	0.78789|0.78789	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|.	.|.	.|.	4.74|4.74	2.86|2.86	0.33363|0.33363	.|.	.|0.325033	.|0.22362	.|N	.|0.061071	T|.	0.30510|.	0.0767|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08411|.	-1.0723|.	4|.	.|0.05959	.|T	.|0.93	-0.231|-0.231	7.7276|7.7276	0.28769|0.28769	0.0:0.8031:0.0:0.1969|0.0:0.8031:0.0:0.1969	.|.	.|.	.|.	.|.	N|X	114|246	.|.	.|ENSP00000398632:S246X	H|S	+|+	1|2	0|0	CD44|CD44	35174938|35174938	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.137000|0.137000	0.21094|0.21094	2.006000|2.006000	0.40874|0.40874	0.518000|0.518000	0.28383|0.28383	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.383	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		5	274	1	0	0.014758	1	0.01482	5	274					A	35218362	C	A	35218362	4	1	11	1	0	0	0	0	0	1	0	0	3026	838	29	3	759	3	CD44	11	35218362	Nonsense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1844599	35218362	99788154	81	1197											
RAG1	5896	broad.mit.edu	37	chr11	36597180	36597180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtctgtggaagaactgCgggatcgggtgaaaggggtc	18	5	1	3	rs121918572		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:36597180C>T	ENST00000299440.5	+	2	2438	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - coding silent(1)	p.R776R(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM090373	RAG1	M	rs121918572	c.(2326-2328)Cgg>Tgg		recombination activating gene 1							80	78	79					11																	36597180		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597180C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2326C>T	11.37:g.36597180C>T	ENSP00000299440:p.Arg776Trp						p.R776W	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2438	+	all_lung(20;0.226)	all_hematologic(20;0.107)	776					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2326C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095241	0.56075	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88046	-2.33;-2.33	6.13	-0.167	0.13347	.	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96683	0.9505	10	0.87932	D	0	.	18.3544	0.90352	0.5232:0.4768:0.0:0.0	.	776	P15918	RAG1_HUMAN	W	776	ENSP00000434610:R776W;ENSP00000299440:R776W	ENSP00000299440:R776W	R	+	1	2	RAG1	36553756	0.995000	0.38212	0.906000	0.35671	0.895000	0.52256	0.749000	0.26320	0.086000	0.17137	0.644000	0.83932	CGG		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		42	380	0	0	0	1	0	42	380					T	36597180	C	T	36597180	3	4	11	1	0	0	0	0	1	0	0	0	13053	759	27	1	2328	1	RAG1	11	36597180	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1378818	36597180	98409336	82	1198											
OR5M1	390168	broad.mit.edu	37	chr11	56380401	56380401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgccatctttttgacaCgggtgtcagagcaggccagc	11	11	2	2	rs553800236		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:56380401C>T	ENST00000526538.1	-	1	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTTGACACGGGTGTCAGA	0.433																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(577-579)cGt>cAt		olfactory receptor, family 5, subfamily M, member 1							56	53	54					11																	56380401		1889	4106	5995	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380401C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.578G>A	11.37:g.56380401C>T	ENSP00000435416:p.Arg193His						p.R193H	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	577	-			193					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.578G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616311	0.00120	.	.	ENSG00000255012	ENST00000526538	T	0.00076	8.76	3.71	-2.03	0.07365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14337	-1.0476	9	0.02654	T	1	-10.5846	7.7176	0.28712	0.0:0.179:0.546:0.2751	.	193	Q8NGP8	OR5M1_HUMAN	H	193	ENSP00000435416:R193H	ENSP00000435416:R193H	R	-	2	0	OR5M1	56136977	0.000000	0.05858	0.020000	0.16555	0.104000	0.19210	-1.808000	0.01732	-0.719000	0.04942	-1.820000	0.00599	CGT		0.433	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		61	230	0	0	0	1	0	61	230					T	56380401	C	T	56380401	3	4	11	1	0	0	0	0	1	0	0	0	11214	536	19	1	373	1	OR5M1	11	56380401	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	19783221	56380401	78626115	83	1199											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076887	57076887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctgggctaaatgctgCctctcgctgggggccaacac	12	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:57076887C>T	ENST00000532437.1	-	5	3609	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1100	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAATGCTGCCTCTCGCTGG	0.607																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3298-3300)Gca>Aca		tankyrase 1 binding protein 1, 182kDa							80	70	74					11																	57076887		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076887C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3298G>A	11.37:g.57076887C>T	ENSP00000437271:p.Ala1100Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T	p.A1100T			Q9C0C2	TB182_HUMAN			5	3609	-		all_epithelial(135;0.21)	1100			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3298G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.918881	0.17982	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.31769	1.48;1.48	5.05	-0.935	0.10423	.	1.600840	0.03626	N	0.237178	T	0.24044	0.0582	L	0.44542	1.39	0.09310	N	1	B	0.23937	0.094	B	0.23419	0.046	T	0.15009	-1.0452	10	0.26408	T	0.33	0.0635	3.3819	0.07257	0.1927:0.3151:0.0:0.4922	.	1100	Q9C0C2	TB182_HUMAN	T	1100	ENSP00000350990:A1100T;ENSP00000437271:A1100T	ENSP00000350990:A1100T	A	-	1	0	TNKS1BP1	56833463	0.000000	0.05858	0.005000	0.12908	0.056000	0.15407	-1.427000	0.02441	-0.048000	0.13401	-0.379000	0.06801	GCA		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		30	324	0	0	0	1	0	30	324					T	57076887	C	T	57076887	3	4	11	1	0	0	0	0	1	0	0	0	16372	739	26	2	1915	2	TNKS1BP1	11	57076887	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	696486	57076887	77929629	84	1200											
HRASLS5	117245	broad.mit.edu	37	chr11	63233706	63233706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatgatcttgtccaccGgcaagggcaggtacgtccca	13	12	1	1	rs80217781		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:63233706G>A	ENST00000301790.4	-	5	782	c.623C>T	c.(622-624)cCg>cTg	p.P208L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.P198L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	208							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTGTCCACCGGCAAGGGCAG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20216	0.001		0.0	False		,,,				2504	0.0					ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(592-594)cCg>cTg		HRAS-like suppressor family, member 5							222	168	186					11																	63233706		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63233706G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.623C>T	11.37:g.63233706G>A	ENSP00000301790:p.Pro208Leu					HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P208L	p.P198L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			5	725	-			208					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.593C>T	CCDS8044.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.40	3.113436	0.56398	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.23552	1.9;1.9;1.9	4.16	4.16	0.48862	NC (1);	0.211175	0.39083	N	0.001474	T	0.51787	0.1695	M	0.82433	2.59	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.997	T	0.55405	-0.8146	10	0.59425	D	0.04	-17.8362	12.2645	0.54670	0.0:0.0:1.0:0.0	.	208;198;208	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	198;208;208	ENSP00000444809:P198L;ENSP00000443873:P208L;ENSP00000301790:P208L	ENSP00000301790:P208L	P	-	2	0	HRASLS5	62990282	1.000000	0.71417	0.966000	0.40874	0.106000	0.19336	4.885000	0.63142	2.618000	0.88619	0.650000	0.86243	CCG		0.512	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		22	332	0	0	0	1	0	22	332					A	63233706	G	A	63233706	3	1	11	1	0	0	0	0	1	0	0	0	7381	1116	39	1	224	1	HRASLS5	11	63233706	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6156819	63233706	71772810	85	1201											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177170	67177171	+	Frame_Shift_Ins	INS	-	-	G													gcccggggcccccccatcgaINSggggccccccaggccccaac							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:67177170_67177171insG	ENST00000542590.1	+	9	1300_1301	c.1286_1287insG	c.(1285-1290)gaggggfs	p.EG429fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.EG429fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	429	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCCCCATCGAGGGGCCCCCCA	0.683																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1285-1287)gggfs		TBC1 domain family, member 10C																																				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177170_67177171insG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1290dupG	11.37:g.67177174_67177174dupG	ENSP00000443654:p.Glu429fs					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G429fs	p.G429fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1315_1316	+			429			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1286_1287insG	CCDS8162.1																																																																																				0.683	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		12	124						12	124	---	---	---	---	G	67177171	-	G	67177170	7	5	11	1	0	1	1	0	0	0	0	0	15652	304	11	0	1320	0	TBC1D10C	11	67177170	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	3943464	67177170	67829346	86	1202											
FAT3	120114	broad.mit.edu	37	chr11	92600211	92600211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccagggctgcctggactCggtgatactgaataacaatg	11	10	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:92600211C>T	ENST00000298047.6	+	21	11980	c.11963C>T	c.(11962-11964)tCg>tTg	p.S3988L	FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L|FAT3_ENST00000533797.1_Missense_Mutation_p.S323L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3988	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3988L(2)|p.S563L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCTGGACTCGGTGATACTG	0.617										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - Missense(3)	p.S3988L(2)|p.S563L(1)	endometrium(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11962-11964)tCg>tTg		FAT atypical cadherin 3							10	13	12					11																	92600211		2016	4174	6190	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600211C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11963C>T	11.37:g.92600211C>T	ENSP00000298047:p.Ser3988Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Missense_Mutation_p.S323L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L|FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L	p.S3988L			Q8TDW7	FAT3_HUMAN			21	11980	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3988			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11963C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.334571	0.81801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82476	0.5045	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.957	D;P	0.87578	0.998;0.781	T	0.82220	-0.0565	9	0.62326	D	0.03	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	3988;3988	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3988;3988;3838;323	ENSP00000298047:S3988L;ENSP00000387040:S3988L;ENSP00000432586:S3838L;ENSP00000436399:S323L	ENSP00000298047:S3988L	S	+	2	0	FAT3	92239859	1.000000	0.71417	0.980000	0.43619	0.553000	0.35397	5.694000	0.68272	2.826000	0.97356	0.561000	0.74099	TCG		0.617	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	39	0	0	0	1	0	7	39					T	92600211	C	T	92600211	3	4	11	1	0	0	0	0	1	0	0	0	5716	893	31	1	12045	1	FAT3	11	92600211	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	25423041	92600211	42406305	87	1203											
MLL	4297	broad.mit.edu	37	chr11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-													ttctgagctctcacctctcaCccccccgtcttctgtctctt							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:118344186delC	ENST00000389506.5	+	3	2312	c.2312delC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCACCTCTCACCCCCCCGTCT	0.453																																						ENST00000534358.1																			0											c.(2311-2313)acfs		lysine (K)-specific methyltransferase 2A							197	169	178					11																	118344186		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118344186delC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2312delC	11.37:g.118344186delC	ENSP00000374157:p.Thr771fs					KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T771fs	p.T771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2335	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.2312delC	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		8	1116						8	1116	---	---	---	---	-	118344186	C	-	118344186	7	5	11	1	0	1	0	1	0	0	0	0	9661	507	18	0	2322	0	MLL	11	118344186	Frame_Shift_Del	DEL	C	TCGA-2J-AABO-01A-21D-A40W-08	25743975	118344186	16662330	88	1204											
ABCG4	64137	broad.mit.edu	37	chr11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattgtgtactggatgaCgggccagcccgctgagacca	13	12	0	2	rs201390504		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				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.T494M(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)		TACTGGATGACGGGCCAGCCC	0.647																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.T494M(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1480-1482)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83	74	77		1481,1481	5.2	1	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119030980C>T	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.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met					ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1845	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	494			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1481C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		88	318	0	0	0	1	0	88	318					T	119030980	C	T	119030980	3	4	11	1	0	0	0	0	1	0	0	0	70	536	19	1	1527	1	ABCG4	11	119030980	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	686794	119030980	15975536	89	1205											
CBL	867	broad.mit.edu	37	chr11	119144654	119144654	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttctgggctggaggccatgGctctgaaatccactattgat	12	9	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119144654G>C	ENST00000264033.4	+	4	1043	c.667G>C	c.(667-669)Gct>Cct	p.A223P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	223	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAGGCCATGGCTCTGAAATC	0.473			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(667-669)Gct>Cct		Cbl proto-oncogene, E3 ubiquitin protein ligase							107	103	104					11																	119144654		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119144654G>C	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.667G>C	11.37:g.119144654G>C	ENSP00000264033:p.Ala223Pro						p.A223P	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	4	1043	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	223			Cbl-PTB.|EF-hand-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.667G>C	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337068	0.81801	.	.	ENSG00000110395	ENST00000264033	D	0.83250	-1.7	5.48	5.48	0.80851	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93244	0.6629	10	0.66056	D	0.02	-36.3416	19.3601	0.94434	0.0:0.0:1.0:0.0	.	223	P22681	CBL_HUMAN	P	223	ENSP00000264033:A223P	ENSP00000264033:A223P	A	+	1	0	CBL	118649864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.593000	0.87608	0.491000	0.48974	GCT		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		34	297	0	0	0	1	0	34	297					C	119144654	G	C	119144654	3	2	11	1	0	0	0	0	1	0	0	0	2707	1203	42	5	681	5	CBL	11	119144654	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	113674	119144654	15861862	90	1206											
PDE3A	5139	broad.mit.edu	37	chr12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-													aacagatccaggctatcaagGaagaagaagaagagaaaggg							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				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)			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)	GGCTATCAAGGAAGAAGAAGAAG	0.478																																						ENST00000359062.3																			0				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						c.(3361-3363)del		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	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.chr12:20833140_20833142delGAA		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.3361_3363delGAA	12.37:g.20833149_20833151delGAA	ENSP00000351957:p.Glu1125del					PDE3A_ENST00000544307.1_3'UTR	p.E1125del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3401_3403	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1125			Poly-Glu.		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.3361_3363delGAA	CCDS31754.1																																																																																				0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	507						7	507	---	---	---	---	-	20833142	GAA	-	20833140	7	5	11	1	0	1	0	1	0	0	0	0	11679	1175	41	0	3423	0	PDE3A	12	20833140	In_Frame_Del	DEL	GAA	TCGA-2J-AABO-01A-21D-A40W-08		20833140	113018755	91	1207											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		66	168	1	0	9.31514e-26	1	1.00738e-25	66	168					A	25398284	C	A	25398284	3	1	11	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4565144	25398284	108453611	92	1208											
KRT83	3889	broad.mit.edu	37	chr12	52715017	52715017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgccgcggtagggggCggcggtgatgcagcagcggc	22	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:52715017C>T	ENST00000293670.3	-	1	165	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	35	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGTAGGGGGCGGCGGTGATG	0.697																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(103-105)Gcc>Acc		keratin 83							25	33	30					12																	52715017		2183	4272	6455	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715017C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.103G>A	12.37:g.52715017C>T	ENSP00000293670:p.Ala35Thr						p.A35T	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	165	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		35			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.103G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379703	0.42207	.	.	ENSG00000170523	ENST00000293670	D	0.87412	-2.25	4.55	3.66	0.41972	.	0.000000	0.34580	U	0.003842	T	0.82181	0.4981	M	0.69358	2.11	0.29299	N	0.868803	B	0.15719	0.014	B	0.12837	0.008	T	0.74051	-0.3789	10	0.44086	T	0.13	.	3.659	0.08232	0.1679:0.577:0.163:0.0922	.	35	P78385	KRT83_HUMAN	T	35	ENSP00000293670:A35T	ENSP00000293670:A35T	A	-	1	0	KRT83	51001284	0.004000	0.15560	1.000000	0.80357	0.942000	0.58702	0.668000	0.25127	1.270000	0.44297	-0.140000	0.14226	GCC		0.697	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		27	244	0	0	0	1	0	27	244					T	52715017	C	T	52715017	3	4	11	1	0	0	0	0	1	0	0	0	8527	768	27	1	1414	1	KRT83	12	52715017	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	27316733	52715017	81136878	93	1209											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	9	6	0	3			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(184-186)cGt>cAt		olfactory receptor, family 6, subfamily C, member 6							64	67	66					12																	55688832		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688832C>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His						p.R62H	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	184	-			62						Missense_Mutation	SNP	ENST00000358433.2	37	c.185G>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			24	259	0	0	0	1	0	24	259					T	55688832	C	T	55688832	3	4	11	1	0	0	0	0	1	0	0	0	11236	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	2973815	55688832	78163063	94	1210											
ITGA7	3679	broad.mit.edu	37	chr12	56082681	56082681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgcagcacagccgcgcGgtcaaagctgtagagtgggc	15	11	1	1	rs17857368		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56082681G>A	ENST00000555728.1	-	23	3065	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	ITGA7_ENST00000257880.7_Missense_Mutation_p.R1013C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C			Q13683	ITA7_HUMAN	integrin, alpha 7	1013				R -> H (in Ref. 8; AAH50280). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCGCGCGGTCAAAGCTG	0.587																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3037-3039)Cgc>Tgc		integrin, alpha 7		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	71	73	72		2917,2626,2905	4.6	1	12	dbSNP_123	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	973/1142,876/1045,969/1138	56082681	1,13005	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56082681G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3037C>T	12.37:g.56082681G>A	ENSP00000452387:p.Arg1013Cys					ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1013C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C	p.R1013C			Q13683	ITA7_HUMAN			23	3256	-			1013					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3037C>T		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737426	0.49045	0.0	1.16E-4	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.45	4.56	0.56223	.	0.203366	0.42682	D	0.000663	T	0.52613	0.1745	L	0.50333	1.59	0.42430	D	0.992676	D;P;D;D	0.67145	0.959;0.843;0.984;0.996	P;P;P;P	0.51701	0.663;0.462;0.663;0.677	T	0.57365	-0.7824	10	0.62326	D	0.03	.	13.5445	0.61695	0.0:0.0:0.843:0.157	.	876;1013;973;1032	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	973;969;963;876;1013;973;969;842;1013	ENSP00000452120:R973C;ENSP00000257879:R969C;ENSP00000343009:R963C;ENSP00000393844:R876C;ENSP00000257880:R1013C;ENSP00000377777:R973C;ENSP00000377776:R969C;ENSP00000452387:R1013C	ENSP00000257879:R969C	R	-	1	0	ITGA7	54368948	1.000000	0.71417	0.992000	0.48379	0.204000	0.24138	3.754000	0.55189	1.311000	0.45024	-0.164000	0.13417	CGC		0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		12	284	0	0	0	1	0	12	284					A	56082681	G	A	56082681	3	1	11	1	0	0	0	0	1	0	0	0	7911	1116	39	1	524	1	ITGA7	12	56082681	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	393849	56082681	77769214	95	1211											
ERBB3	2065	broad.mit.edu	37	chr12	56480377	56480377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgtcacatggacacaattGactggagggacatcgtgagg	13	7	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56480377G>T	ENST00000267101.3	+	4	924	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	162					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACACAATTGACTGGAGGGA	0.502																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(484-486)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							269	222	238					12																	56480377		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480377G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.484G>T	12.37:g.56480377G>T	ENSP00000267101:p.Asp162Tyr					ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	p.D162Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	924	+			162					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.484G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546455	0.13312	.	.	ENSG00000065361	ENST00000549061;ENST00000267101;ENST00000394099;ENST00000549672;ENST00000415288	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.81	5.81	0.92471	EGF receptor, L domain (1);	0.073073	0.56097	D	0.000028	T	0.80188	0.4577	M	0.66439	2.03	0.80722	D	1	P	0.38863	0.65	B	0.33392	0.163	T	0.78157	-0.2313	10	0.22706	T	0.39	.	17.0026	0.86384	0.0:0.0:1.0:0.0	.	162	P21860	ERBB3_HUMAN	Y	103;162;162;103;103	ENSP00000449138:D103Y;ENSP00000267101:D162Y;ENSP00000449713:D103Y;ENSP00000408340:D103Y	ENSP00000267101:D162Y	D	+	1	0	ERBB3	54766644	0.848000	0.29623	0.998000	0.56505	0.995000	0.86356	1.181000	0.32017	2.753000	0.94483	0.650000	0.86243	GAC		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			8	586	1	0	1.33987e-11	1	1.42324e-11	8	586					T	56480377	G	T	56480377	3	4	11	1	0	0	0	0	1	0	0	0	5226	1290	45	3	629	3	ERBB3	12	56480377	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	397696	56480377	77371518	96	1212											
GAS2L3	283431	broad.mit.edu	37	chr12	101005850	101005850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgctcgggacaataccGcaaacttccttcactggtgt	8	12	2	0	rs143611209	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:101005850G>A	ENST00000539410.1	+	5	762	c.376G>A	c.(376-378)Gca>Aca	p.A126T	GAS2L3_ENST00000537247.1_Missense_Mutation_p.A22T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	126	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACAATACCGCAAACTTCCT	0.378																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(64-66)Gca>Aca		growth arrest-specific 2 like 3							204	193	197					12																	101005850		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101005850G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.376G>A	12.37:g.101005850G>A	ENSP00000439672:p.Ala126Thr					GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T|GAS2L3_ENST00000539410.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T	p.A22T			Q86XJ1	GA2L3_HUMAN			6	1018	+			126					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.64G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579672	0.96565	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.81	5.81	0.92471	Calponin homology domain (5);	0.054165	0.85682	D	0.000000	T	0.62036	0.2395	M	0.78916	2.43	0.53005	D	0.999965	D	0.55172	0.97	P	0.54590	0.756	T	0.62426	-0.6857	10	0.49607	T	0.09	-10.3724	20.1345	0.98019	0.0:0.0:1.0:0.0	.	126	Q86XJ1	GA2L3_HUMAN	T	126;126;22;126	ENSP00000266754:A126T;ENSP00000448955:A126T;ENSP00000442406:A22T;ENSP00000439672:A126T	ENSP00000266754:A126T	A	+	1	0	GAS2L3	99529981	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.437000	0.97535	2.763000	0.94921	0.558000	0.71614	GCA		0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		5	647	0	0	0	1	0	5	647					A	101005850	G	A	101005850	3	1	11	1	0	0	0	0	1	0	0	0	6276	1087	38	1	390	1	GAS2L3	12	101005850	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	44525473	101005850	32846045	97	1213											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)			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)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				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						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	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.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice	p.M41_splice			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)	4	165	-		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)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	6	271	0	0	0	1	0	6	271					C	20056686	T	C	20056686	5	2	11	1	0	0	0	0	0	0	1	0	16484	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		20056686	95113192	98	1214											
DGKH	160851	broad.mit.edu	37	chr13	42764629	42764629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgaatctaaggaggaagCtaaagatgatggtgccaaag	13	4	1	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:42764629C>A	ENST00000337343.4	+	16	2024	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	DGKH_ENST00000540693.1_Missense_Mutation_p.A668D|DGKH_ENST00000261491.5_Missense_Mutation_p.A668D|DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000379274.2_Missense_Mutation_p.A532D	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	668					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGAGGAAGCTAAAGATGAT	0.373																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1594-1596)gCt>gAt		diacylglycerol kinase, eta							107	102	104					13																	42764629		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42764629C>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2003C>A	13.37:g.42764629C>A	ENSP00000337572:p.Ala668Asp					DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.A668D|DGKH_ENST00000261491.4_Missense_Mutation_p.A668D|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000540693.1_Missense_Mutation_p.A668D	p.A532D			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	16	2024	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	668					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1595C>A	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.132353	0.01756	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79749	-1.3;-1.13;-1.3;-1.3;-1.3;1.95	4.33	-1.13	0.09775	.	3.830580	0.00397	N	0.000049	T	0.56232	0.1971	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45279	-0.9272	10	0.26408	T	0.33	.	0.5744	0.00701	0.2823:0.3223:0.1171:0.2784	.	423;532;668;668	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	D	668;668;668;532;532;423	ENSP00000440823:A668D;ENSP00000337572:A668D;ENSP00000261491:A668D;ENSP00000368576:A532D;ENSP00000445114:A532D;ENSP00000441308:A423D	ENSP00000261491:A668D	A	+	2	0	DGKH	41662629	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.070000	0.14573	-0.164000	0.10927	-0.482000	0.04802	GCT		0.373	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		39	457	1	0	3.38236e-24	1	3.64137e-24	39	457					A	42764629	C	A	42764629	3	1	11	1	0	0	0	0	1	0	0	0	4486	797	28	3	2065	3	DGKH	13	42764629	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	22707943	42764629	72405249	99	1215											
LMO7	4008	broad.mit.edu	37	chr13	76379654	76379654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaatgtggagaactgGccaactgtacaaggaacttc	11	10	0	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:76379654G>A	ENST00000321797.8	+	7	976	c.255G>A	c.(253-255)tgG>tgA	p.W85*	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Nonsense_Mutation_p.W370*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*			Q8WWI1	LMO7_HUMAN	LIM domain 7	370	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAGAACTGGCCAACTGTAC	0.408																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1108-1110)tgG>tgA		LIM domain 7							138	127	130					13																	76379654		1568	3582	5150	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379654G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.255G>A	13.37:g.76379654G>A	ENSP00000317802:p.Trp85*					LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Nonsense_Mutation_p.W85*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*	p.W370*			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2370	+		Breast(118;0.0992)	370					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37	c.1110G>A		.	.	.	.	.	.	.	.	.	.	G	47	13.323881	0.99734	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	.	.	.	5.93	5.08	0.68730	.	0.736359	0.13017	N	0.420363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-3.7943	7.9747	0.30149	0.1313:0.0:0.7356:0.1331	.	.	.	.	X	370;370;85;85;85	.	ENSP00000317802:W85X	W	+	3	0	LMO7	75277655	0.959000	0.32827	0.897000	0.35233	0.811000	0.45836	1.639000	0.37176	1.499000	0.48617	0.563000	0.77884	TGG		0.408	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	422	0	0	0	1	0	5	422					A	76379654	G	A	76379654	4	1	11	1	0	0	0	0	0	1	0	0	8888	1212	42	2	1148	2	LMO7	13	76379654	Nonsense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	33615025	76379654	38790224	100	1216											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	930						10	930	---	---	---	---	-	21961062	GCT	-	21961060	7	5	11	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-2J-AABO-01A-21D-A40W-08		21961060	85388480	101	1217											
TINF2	26277	broad.mit.edu	37	chr14	24709046	24709046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagtcacaggaagaaacaGgtatggcaccgtggccagaa	12	9	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:24709046G>T	ENST00000267415.7	-	9	1654	c.1313C>A	c.(1312-1314)cCt>cAt	p.P438H	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	438					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGAAGAAACAGGTATGGCACC	0.458									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000267415.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1312-1314)cCt>cAt		TERF1 (TRF1)-interacting nuclear factor 2							86	88	87					14																	24709046		1909	4124	6033	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709046G>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1313C>A	14.37:g.24709046G>T	ENSP00000267415:p.Pro438His					TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	p.P438H	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	9	1654	-			438					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.1313C>A	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828471	0.32329	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.84660	-1.88;-1.88	5.49	2.15	0.27550	.	1.805250	0.04023	U	0.300076	T	0.79707	0.4492	N	0.19112	0.55	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.47376	0.545;0.545	T	0.69117	-0.5230	10	0.62326	D	0.03	1.8398	5.8468	0.18671	0.1971:0.1654:0.6375:0.0	.	403;438	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	438;403	ENSP00000267415:P438H;ENSP00000442154:P403H	ENSP00000267415:P438H	P	-	2	0	TINF2	23778886	0.004000	0.15560	0.001000	0.08648	0.016000	0.09150	1.259000	0.32956	0.641000	0.30601	0.563000	0.77884	CCT		0.458	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			38	265	1	0	2.05212e-20	1	2.18954e-20	38	265					T	24709046	G	T	24709046	3	4	11	1	0	0	0	0	1	0	0	0	15975	1000	35	3	46	3	TINF2	14	24709046	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	2747986	24709046	82640494	102	1218											
SEC23A	10484	broad.mit.edu	37	chr14	39524367	39524367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtcgaatgagctgtctgtCcagccacctaagcacatctg	9	13	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:39524367C>T	ENST00000307712.6	-	14	2156	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N|SEC23A_ENST00000537403.1_Missense_Mutation_p.D345N|SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	547					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCTGTCTGTCCAGCCACCTA	0.418																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1033-1035)Gac>Aac		Sec23 homolog A (S. cerevisiae)							131	124	126					14																	39524367		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39524367C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1639G>A	14.37:g.39524367C>T	ENSP00000306881:p.Asp547Asn					SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N|SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N|SEC23A_ENST00000307712.6_Missense_Mutation_p.D547N	p.D345N			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	10	2235	-	Hepatocellular(127;0.213)		547					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1033G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354537	0.95854	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.81	4.93	0.64822	Sec23/Sec24, helical domain (2);	0.151418	0.64402	N	0.000016	D	0.99026	0.9667	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99120	1.0849	10	0.87932	D	0	-14.9158	14.8974	0.70654	0.0:0.9311:0.0:0.0689	.	518;421;547	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	N	345;547;421;518	ENSP00000444193:D345N;ENSP00000306881:D547N;ENSP00000437715:D421N;ENSP00000445393:D518N	ENSP00000306881:D547N	D	-	1	0	SEC23A	38594118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.653000	0.83643	1.461000	0.47929	0.551000	0.68910	GAC		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			6	524	0	0	0	1	0	6	524					T	39524367	C	T	39524367	3	4	11	1	0	0	0	0	1	0	0	0	14041	855	30	2	686	2	SEC23A	14	39524367	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	14815321	39524367	67825173	103	1219											
RPL36AL	6166	broad.mit.edu	37	chr14	50085694	50085694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccatagccactctgcttCcgatcatagcgcctccttcc	5	19	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085694C>T	ENST00000298289.6	-	2	288	c.129G>A	c.(127-129)cgG>cgA	p.R43R	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	43					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CACTCTGCTTCCGATCATAGC	0.483																																						ENST00000298289.6																			0											c.(127-129)cgG>cgA		ribosomal protein L36a-like							120	112	115					14																	50085694		2203	4300	6503	SO:0001819	synonymous_variant	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085694C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.129G>A	14.37:g.50085694C>T							p.R43R	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	288	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		43					Q3B7A5	Silent	SNP	ENST00000298289.6	37	c.129G>A	CCDS9689.1																																																																																				0.483	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			10	732	0	0	0	1	0	10	732					T	50085694	C	T	50085694	2	4	11	1	0	0	0	0	0	0	0	1	13638	842	30	2		2	RPL36AL	14	50085694	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	10561327	50085694	57263846	104	1220			1	3		3	3	49	C		3.282153e-08
RPL36AL	6166	broad.mit.edu	37	chr14	50085724	50085724	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccttccctgggcataCaaagaatccttgcccttctt	6	16	1	1	rs1804401		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085724C>G	ENST00000298289.6	-	2	258	c.99G>C	c.(97-99)ttG>ttC	p.L33F	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTGGGCATACAAAGAATCCT	0.478																																						ENST00000298289.6																			0											c.(97-99)ttG>ttC		ribosomal protein L36a-like							113	105	108					14																	50085724		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085724C>G	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.99G>C	14.37:g.50085724C>G	ENSP00000346012:p.Leu33Phe						p.L33F	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	258	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.99G>C	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312351	0.60414	.	.	ENSG00000165502	ENST00000298289	T	0.48836	0.8	4.16	-0.0314	0.13910	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.47710	0.1460	.	.	.	0.25104	N	0.990768	P	0.40332	0.713	P	0.48454	0.578	T	0.44421	-0.9329	9	0.66056	D	0.02	-33.4981	8.2914	0.31960	0.2835:0.4406:0.2758:0.0	.	33	Q969Q0	RL36L_HUMAN	F	33	ENSP00000346012:L33F	ENSP00000346012:L33F	L	-	3	2	RPL36AL	49155474	0.919000	0.31177	0.986000	0.45419	0.881000	0.50899	0.007000	0.13174	0.011000	0.14865	0.579000	0.79373	TTG		0.478	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			7	588	0	0	0	1	0	7	588					G	50085724	C	G	50085724	3	3	11	1	0	0	0	0	1	0	0	0	13638	477	17	5	225	5	RPL36AL	14	50085724	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	30	50085724	57263816	105	1221			1	3		3	3	49	C		3.282153e-08
RPL36AL	6166	broad.mit.edu	37	chr14	50085742	50085742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaagaatccttgcccttCttatactgtgtcactttgtg	6	10	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085742C>T	ENST00000298289.6	-	2	240	c.81G>A	c.(79-81)aaG>aaA	p.K27K	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	27					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGCCCTTCTTATACTGTG	0.488																																						ENST00000298289.6																			0											c.(79-81)aaG>aaA		ribosomal protein L36a-like							107	101	103					14																	50085742		2203	4300	6503	SO:0001819	synonymous_variant	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085742C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.81G>A	14.37:g.50085742C>T							p.K27K	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	240	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		27					Q3B7A5	Silent	SNP	ENST00000298289.6	37	c.81G>A	CCDS9689.1																																																																																				0.488	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			6	556	0	0	0	1	0	6	556					T	50085742	C	T	50085742	2	4	11	1	0	0	0	0	0	0	0	1	13638	912	32	2		2	RPL36AL	14	50085742	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	18	50085742	57263798	106	1222			1	3		3	3	49	C		3.282153e-08
DACT1	51339	broad.mit.edu	37	chr14	59113461	59113461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggggctgtaccccgCgcctgtgcctctgccctacg	13	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:59113461C>T	ENST00000335867.4	+	4	2144	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	DACT1_ENST00000395153.3_Missense_Mutation_p.A670V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V|DACT1_ENST00000541264.2_Missense_Mutation_p.A426V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGTACCCCGCGCCTGTGCCT	0.677																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(2008-2010)gCg>gTg		dishevelled-binding antagonist of beta-catenin 1							27	31	30					14																	59113461		2202	4299	6501	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113461C>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.2120C>T	14.37:g.59113461C>T	ENSP00000337439:p.Ala707Val					DACT1_ENST00000541264.2_Missense_Mutation_p.A426V|DACT1_ENST00000395151.3_Missense_Mutation_p.A426V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V|DACT1_ENST00000335867.4_Missense_Mutation_p.A707V	p.A670V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2156	+			707					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.2009C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	2.952	-0.216568	0.06101	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.78	1.38	0.22167	.	0.637842	0.14878	N	0.293151	T	0.36468	0.0968	L	0.41961	1.31	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.09377	0.004;0.002	T	0.22173	-1.0224	10	0.33940	T	0.23	-4.5278	9.1246	0.36807	0.0:0.7656:0.139:0.0955	.	670;707	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	426;426;670;707;426	ENSP00000451598:A426V;ENSP00000378581:A426V;ENSP00000378582:A670V;ENSP00000337439:A707V;ENSP00000442850:A426V	ENSP00000337439:A707V	A	+	2	0	DACT1	58183214	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.296000	0.19083	0.157000	0.19338	-0.223000	0.12442	GCG		0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		13	229	0	0	0	1	0	13	229					T	59113461	C	T	59113461	3	4	11	1	0	0	0	0	1	0	0	0	4233	768	27	1	2134	1	DACT1	14	59113461	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9027719	59113461	48236079	107	1223											
KCNH5	27133	broad.mit.edu	37	chr14	63174356	63174356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaggcctggggtacgCttttttccgacagtattttt	12	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:63174356C>T	ENST00000322893.7	-	11	3105	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	946	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGGGGTACGCTTTTTTCCGA	0.473																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2836-2838)aGc>aAc		potassium voltage-gated channel, subfamily H (eag-related), member 5							132	142	139					14																	63174356		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174356C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2837G>A	14.37:g.63174356C>T	ENSP00000321427:p.Ser946Asn					KCNH5_ENST00000420622.2_3'UTR	p.S946N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3105	-			946			CAD (involved in subunit assembly) (By similarity).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2837G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.657147	0.00108	.	.	ENSG00000140015	ENST00000322893	D	0.98889	-5.21	5.66	3.73	0.42828	.	0.225680	0.49916	D	0.000128	D	0.93354	0.7881	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86737	0.1952	10	0.16896	T	0.51	.	3.934	0.09298	0.1606:0.5698:0.1557:0.1139	.	946	Q8NCM2	KCNH5_HUMAN	N	946	ENSP00000321427:S946N	ENSP00000321427:S946N	S	-	2	0	KCNH5	62244109	0.037000	0.19845	0.959000	0.39883	0.058000	0.15608	0.257000	0.18369	2.832000	0.97577	0.655000	0.94253	AGC		0.473	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		93	997	0	0	0	1	0	93	997					T	63174356	C	T	63174356	3	4	11	1	0	0	0	0	1	0	0	0	8065	797	28	2	133	2	KCNH5	14	63174356	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4060895	63174356	44175184	108	1224											
SLC8A3	6547	broad.mit.edu	37	chr14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcgtcatcaattatgCccacggagaactccttctgg	8	11	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1399-1401)gGc>gAc		solute carrier family 8 (sodium/calcium exchanger), member 3							166	166	166					14																	70633740		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633740C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1400G>A	14.37:g.70633740C>T	ENSP00000370669:p.Gly467Asp					SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D	p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2153	-			467			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1400G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002330	0.35320	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.35593	1.075	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	T	0.15492	-1.0435	10	0.25106	T	0.35	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	467;467;467;467	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	D	467	ENSP00000349392:G467D;ENSP00000370669:G467D;ENSP00000350560:G467D;ENSP00000436688:G467D;ENSP00000433531:G467D	ENSP00000349392:G467D	G	-	2	0	SLC8A3	69703493	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.980000	0.63812	2.587000	0.87381	0.643000	0.83706	GGC		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			8	1119	0	0	0	1	0	8	1119					T	70633740	C	T	70633740	3	4	11	1	0	0	0	0	1	0	0	0	14758	739	26	2	1522	2	SLC8A3	14	70633740	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	7459384	70633740	36715800	109	1225											
APBA2	321	broad.mit.edu	37	chr15	29346967	29346967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgaggccaagcaccccGgagacccccagagaggcttc	11	17	0	2	rs375700005		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:29346967G>A	ENST00000558402.1	+	5	1479	c.880G>A	c.(880-882)Gga>Aga	p.G294R	APBA2_ENST00000561069.1_Missense_Mutation_p.G294R|APBA2_ENST00000558330.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000558259.1_Missense_Mutation_p.G294R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAGCACCCCGGAGACCCCCA	0.662																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(880-882)Gga>Aga		amyloid beta (A4) precursor protein-binding, family A, member 2		G	ARG/GLY,ARG/GLY	0,4400		0,0,2200	18	22	20		880,880	3.1	0.2	15		20	1,8571		0,1,4285	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	125,125	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	294/738,294/750	29346967	1,12971	2200	4286	6486	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346967G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.880G>A	15.37:g.29346967G>A	ENSP00000453293:p.Gly294Arg					APBA2_ENST00000558259.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000561069.1_Missense_Mutation_p.G294R|APBA2_ENST00000558330.1_Missense_Mutation_p.G294R	p.G294R			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1479	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	294					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.880G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	3.639	-0.073870	0.07184	0.0	1.17E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.29655	1.56	4.96	3.08	0.35506	.	0.685293	0.14091	N	0.342030	T	0.24122	0.0584	L	0.50333	1.59	0.09310	N	0.999998	P;P;P	0.49447	0.924;0.848;0.924	B;B;B	0.40940	0.344;0.271;0.344	T	0.07328	-1.0778	10	0.17369	T	0.5	.	7.6919	0.28573	0.2545:0.0:0.7455:0.0	.	294;294;294	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	R	294	ENSP00000409312:G294R	ENSP00000219865:G294R	G	+	1	0	APBA2	27134259	0.997000	0.39634	0.217000	0.23759	0.186000	0.23388	3.084000	0.50143	1.075000	0.40932	-0.143000	0.13931	GGA		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		9	154	0	0	0	1	0	9	154					A	29346967	G	A	29346967	3	1	11	1	0	0	0	0	1	0	0	0	757	1117	39	1	882	1	APBA2	15	29346967	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		29346967	73184425	110	1226											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	984						7	984	---	---	---	---	-	34393993	AGC	-	34393991	7	5	11	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AABO-01A-21D-A40W-08	5047024	34393991	68137401	111	1227											
TMEM87A	25963	broad.mit.edu	37	chr15	42503943	42503943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaaagtgtgtgatcattCgttcctagggaaaaaaaaaa	8	5	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:42503943C>T	ENST00000389834.4	-	20	1895	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	RP11-546B15.1_ENST00000561800.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	544						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGTGATCATTCGTTCCTAGGG	0.368																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1630-1632)cGa>cAa		transmembrane protein 87A							227	218	221					15																	42503943		2203	4299	6502	SO:0001583	missense	25963					integral to membrane		g.chr15:42503943C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1631G>A	15.37:g.42503943C>T	ENSP00000374484:p.Arg544Gln					TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	p.R544Q	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	20	1895	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	544					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1631G>A	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635366	0.47049	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.37	4.46	0.54185	.	0.085860	0.49305	D	0.000141	T	0.31796	0.0808	N	0.19112	0.55	0.33298	D	0.564466	D	0.64830	0.994	P	0.47102	0.537	T	0.36866	-0.9730	9	0.20519	T	0.43	-6.2906	12.5403	0.56165	0.0:0.9238:0.0:0.0762	.	544	Q8NBN3	TM87A_HUMAN	Q	544;483;520	.	ENSP00000374484:R544Q	R	-	2	0	TMEM87A	40291235	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.962000	0.49176	1.501000	0.48654	-0.145000	0.13849	CGA		0.368	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		65	923	0	0	0	1	0	65	923					T	42503943	C	T	42503943	3	4	11	1	0	0	0	0	1	0	0	0	16262	884	31	1	40	1	TMEM87A	15	42503943	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	8109952	42503943	60027449	112	1228											
USP8	9101	broad.mit.edu	37	chr15	50741645	50741645	+	Frame_Shift_Del	DEL	G	G	-													gaaacatcaaaaaagctgtcGaagaagctgaaagactctct							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:50741645delG	ENST00000396444.3	+	4	636	c.298delG	c.(298-300)gaafs	p.E101fs	USP8_ENST00000307179.4_Frame_Shift_Del_p.E101fs|USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Frame_Shift_Del_p.E101fs	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	101	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAAAGCTGTCGAAGAAGCTGA	0.289																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(298-300)aafs		ubiquitin specific peptidase 8							47	49	48					15																	50741645		2191	4292	6483	SO:0001589	frameshift_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50741645delG	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.298delG	15.37:g.50741645delG	ENSP00000379721:p.Glu101fs					USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Frame_Shift_Del_p.E101fs|USP8_ENST00000396444.3_Frame_Shift_Del_p.E101fs	p.E101fs	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	5	798	+			101			MIT.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Frame_Shift_Del	DEL	ENST00000396444.3	37	c.298delG	CCDS10137.1																																																																																				0.289	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		41	388						41	388	---	---	---	---	-	50741645	G	-	50741645	7	5	11	1	0	1	0	1	0	0	0	0	17143	1059	37	0	308	0	USP8	15	50741645	Frame_Shift_Del	DEL	G	TCGA-2J-AABO-01A-21D-A40W-08	8237702	50741645	51789747	113	1229											
TMOD3	29766	broad.mit.edu	37	chr15	52161562	52161562	+	Frame_Shift_Del	DEL	A	A	-													ctatgtgccctacactggagAaaaaaaaggtaagccccaga							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:52161562delA	ENST00000308580.7	+	3	556	c.275delA	c.(274-276)gaafs	p.E92fs	TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	92						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACACTGGAGAAAAAAAAGGT	0.388																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(274-276)gafs		tropomodulin 3 (ubiquitous)							79	82	81					15																	52161562		2195	4293	6488	SO:0001589	frameshift_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161562delA	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.275delA	15.37:g.52161562delA	ENSP00000308753:p.Glu92fs					TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	556	+			92					B2R6G7|Q9NT43|Q9NZR0	Frame_Shift_Del	DEL	ENST00000308580.7	37	c.275delA	CCDS10145.1																																																																																				0.388	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			10	648						10	648	---	---	---	---	-	52161562	A	-	52161562	7	5	11	1	0	1	0	1	0	0	0	0	16287	246	9	0	281	0	TMOD3	15	52161562	Frame_Shift_Del	DEL	A	TCGA-2J-AABO-01A-21D-A40W-08	1419917	52161562	50369830	114	1230											
VPS13C	54832	broad.mit.edu	37	chr15	62283987	62283987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactttttccttaatttttgCccagaccgaatcacctgaaa	5	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383																																						ENST00000261517.5																			1	Substitution - coding silent(1)	p.G456G(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1366-1368)ggG>ggA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							125	131	129					15																	62283987		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62283987C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1368G>A	15.37:g.62283987C>T						VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	p.G456G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			17	1441	-			456						Silent	SNP	ENST00000261517.5	37	c.1368G>A	CCDS32257.1																																																																																				0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		7	942	0	0	0	1	0	7	942					T	62283987	C	T	62283987	2	4	11	1	0	0	0	0	0	0	0	1	17245	726	26	2		2	VPS13C	15	62283987	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	10122425	62283987	40247405	115	1231											
ZNF609	23060	broad.mit.edu	37	chr15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A													aggacaagaaaaagaaagacINSaaaaaaaagaaggaatcttc							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.49	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	1088						7	1088	---	---	---	---	A	64967247	-	A	64967246	7	5	11	1	0	1	1	0	0	0	0	0	18088	477	17	0	2207	0	ZNF609	15	64967246	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	2683259	64967246	37564146	116	1232											
ARID3B	10620	broad.mit.edu	37	chr15	74836290	74836292	+	In_Frame_Del	DEL	CAG	CAG	-													aggcaaaaatggagccacttCagcagcagcagcagcagcag							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:74836290_74836292delCAG	ENST00000346246.5	+	2	244_246	c.13_15delCAG	c.(13-15)cagdel	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGAGCCACTTcagcagcagcagc	0.562																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(13-15)del		AT rich interactive domain 3B (BRIGHT-like)				235,184,3735		16,2,201,6,170,1682						1.5	0.2			16	314,329,7401		14,1,285,11,306,3405	no	codingComplex	ARID3B	NM_006465.2		30,3,486,17,476,5087	A1A1,A1A2,A1R,A2A2,A2R,RR		7.9935,10.0867,8.7063				549,513,11136				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836290_74836292delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.13_15delCAG	15.37:g.74836299_74836301delCAG	ENSP00000343126:p.Gln15del						p.Q15del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			2	244_246	+			15			Gln-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.13_15delCAG	CCDS10264.1																																																																																				0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		9	133						9	133	---	---	---	---	-	74836292	CAG	-	74836290	7	5	11	1	0	1	0	1	0	0	0	0	917	827	29	0	15	0	ARID3B	15	74836290	In_Frame_Del	DEL	CAG	TCGA-2J-AABO-01A-21D-A40W-08	9869044	74836290	27695102	117	1233											
PPCDC	60490	broad.mit.edu	37	chr15	75340906	75340906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacagacctgcgtcatgCgggcctgggaccgcagcaag	13	14	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:75340906C>T	ENST00000342932.3	+	5	517	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W|PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	125					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)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						CTGCGTCATGCGGGCCTGGGA	0.662																																						ENST00000342932.3																			0				breast(1)|cervix(1)	2						c.(373-375)Cgg>Tgg		phosphopantothenoylcysteine decarboxylase							52	52	52					15																	75340906		2197	4295	6492	SO:0001583	missense	60490				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity	g.chr15:75340906C>T	AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.373C>T	15.37:g.75340906C>T	ENSP00000343190:p.Arg125Trp					PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W|PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W	p.R125W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN			5	517	+			125					Q96SX0|Q9HC17	Missense_Mutation	SNP	ENST00000342932.3	37	c.373C>T	CCDS10275.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593241	0.86953	.	.	ENSG00000138621	ENST00000342932	T	0.49720	0.77	5.49	5.49	0.81192	Flavoprotein (3);	0.050133	0.85682	D	0.000000	T	0.80308	0.4599	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86798	0.1990	10	0.72032	D	0.01	-24.5121	18.3618	0.90377	0.0:1.0:0.0:0.0	.	125	Q96CD2	COAC_HUMAN	W	125	ENSP00000343190:R125W	ENSP00000343190:R125W	R	+	1	2	PPCDC	73127959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.512000	0.60469	2.592000	0.87571	0.655000	0.94253	CGG		0.662	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286416.1	NM_021823		5	420	0	0	0	1	0	5	420					T	75340906	C	T	75340906	3	4	11	1	0	0	0	0	1	0	0	0	12346	759	27	1	387	1	PPCDC	15	75340906	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	504616	75340906	27190486	118	1234											
ZNF646	9726	broad.mit.edu	37	chr16	31091179	31091179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggagaccactgtgaaGggggaggagatagagcccag	19	6	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:31091179G>A	ENST00000394979.2	+	1	3957	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	ZNF646_ENST00000300850.5_Silent_p.K1178K			O15015	ZN646_HUMAN	zinc finger protein 646	1178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACTGTGAAGGGGGAGGAGA	0.602																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3532-3534)aaG>aaA		zinc finger protein 646							34	42	40					16																	31091179		2195	4299	6494	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091179G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3534G>A	16.37:g.31091179G>A						ZNF646_ENST00000300850.5_Silent_p.K1178K	p.K1178K			O15015	ZN646_HUMAN			1	3957	+			1178					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3534G>A																																																																																					0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		11	87	0	0	0	1	0	11	87					A	31091179	G	A	31091179	2	1	11	1	0	0	0	0	0	0	0	1	18115	991	35	2		2	ZNF646	16	31091179	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		31091179	59263574	119	1235											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			11	423						11	423	---	---	---	---	-	57731887	GGA	-	57731885	7	5	11	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-2J-AABO-01A-21D-A40W-08	26640706	57731885	32622868	120	1236											
GFOD2	81577	broad.mit.edu	37	chr16	67709902	67709902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgaggctgtcaccatcCggaaggcatccaccgatgtt	12	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:67709902C>T	ENST00000268797.7	-	3	659	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	105					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTCACCATCCGGAAGGCATC	0.537																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(313-315)cGg>cAg		glucose-fructose oxidoreductase domain containing 2							70	51	58					16																	67709902		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709902C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.314G>A	16.37:g.67709902C>T	ENSP00000268797:p.Arg105Gln					GFOD2_ENST00000602377.1_5'UTR	p.R105Q	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	659	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	105					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.314G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454598	0.84209	.	.	ENSG00000141098	ENST00000268797	T	0.23348	1.91	4.99	4.99	0.66335	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.102199	0.64402	D	0.000004	T	0.24005	0.0581	L	0.51853	1.615	0.36424	D	0.864483	B	0.34103	0.437	B	0.33392	0.163	T	0.17561	-1.0365	10	0.22706	T	0.39	-34.9241	13.9291	0.63983	0.0:0.8474:0.1525:0.0	.	105	Q3B7J2	GFOD2_HUMAN	Q	105	ENSP00000268797:R105Q	ENSP00000268797:R105Q	R	-	2	0	GFOD2	66267403	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.401000	0.44513	2.468000	0.83385	0.563000	0.77884	CGG		0.537	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		11	112	0	0	0	1	0	11	112					T	67709902	C	T	67709902	3	4	11	1	0	0	0	0	1	0	0	0	6373	652	23	1	847	1	GFOD2	16	67709902	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9978017	67709902	22644851	121	1237											
YBX2	51087	broad.mit.edu	37	chr17	7193599	7193599	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctggttgggaggccGggggcctcgcacaaaccgcc							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7193599delG	ENST00000007699.5	-	5	778	c.715delC	c.(715-717)cggfs	p.R239fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(715-717)ggfs		Y box binding protein 2							94	114	107					17																	7193599		2201	4292	6493	SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193599delG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.715delC	17.37:g.7193599delG	ENSP00000007699:p.Arg239fs						p.R239fs	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	778	-			239			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Frame_Shift_Del	DEL	ENST00000007699.5	37	c.715delC	CCDS11098.1																																																																																				0.622	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		8	1078						8	1078	---	---	---	---	-	7193599	G	-	7193599	7	5	11	1	0	1	0	1	0	0	0	0	17524	1115	39	0	395	0	YBX2	17	7193599	Frame_Shift_Del	DEL	G	TCGA-2J-AABO-01A-21D-A40W-08		7193599	74001611	122	1238											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	6	15	1	1	rs193920774		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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)	ENST00000420246.2		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"		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50	44	46					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>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.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V	p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	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;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	48	1	0	9.04412e-07	1	9.48046e-07	27	48					A	7577141	C	A	7577141	3	1	11	1	0	0	0	0	1	0	0	0	16434	855	30	3	489	3	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	383542	7577141	73618069	123	1239											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	287						8	287	---	---	---	---	-	34071996	TCC	-	34071994	7	5	11	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-2J-AABO-01A-21D-A40W-08	26494853	34071994	47123216	124	1240											
CDK12	51755	broad.mit.edu	37	chr17	37627224	37627224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatccagttcacgcagtcGtcattccagtatctcacctg	8	13	3	1	rs200075664		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:37627224G>A	ENST00000447079.4	+	2	1172	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	380					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCACGCAGTCGTCATTCCAGT	0.443			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1138-1140)cGt>cAt		cyclin-dependent kinase 12							62	61	62					17																	37627224		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627224G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1139G>A	17.37:g.37627224G>A	ENSP00000398880:p.Arg380His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1172	+			380					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1139G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026744	0.75390	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.46819	0.9;0.86	6.16	6.16	0.99307	.	0.000000	0.44097	D	0.000499	T	0.61248	0.2332	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.58923	-0.7550	10	0.52906	T	0.07	-9.2319	20.8598	0.99761	0.0:0.0:1.0:0.0	.	379;380;380	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	380	ENSP00000407720:R380H;ENSP00000398880:R380H	ENSP00000407720:R380H	R	+	2	0	CDK12	34880750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.937000	0.99478	0.650000	0.86243	CGT		0.443	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		6	349	0	0	0	1	0	6	349					A	37627224	G	A	37627224	3	1	11	1	0	0	0	0	1	0	0	0	3137	1145	40	1	1145	1	CDK12	17	37627224	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	3555230	37627224	43567986	125	1241											
GPATCH8	23131	broad.mit.edu	37	chr17	42476539	42476539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggcttctccgcttgcttCgactacgactacaactgctg	8	14	1	0	rs199963233		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:42476539C>T	ENST00000591680.1	-	8	2936	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R891Q	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	969	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCGCTTGCTTCGACTACGACT	0.642																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2671-2673)cGa>cAa		G patch domain containing 8							39	39	39					17																	42476539		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476539C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2906G>A	17.37:g.42476539C>T	ENSP00000467556:p.Arg969Gln					GPATCH8_ENST00000591680.1_Missense_Mutation_p.R969Q	p.R891Q			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2954	-		Prostate(33;0.0181)	969			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2672G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020141	0.54576	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13538	2.58	5.2	5.2	0.72013	.	0.064020	0.64402	D	0.000003	T	0.26738	0.0654	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.01326	-1.1384	10	0.27785	T	0.31	-12.7963	18.9211	0.92525	0.0:1.0:0.0:0.0	.	969	Q9UKJ3	GPTC8_HUMAN	Q	969;891	ENSP00000395016:R891Q	ENSP00000335486:R969Q	R	-	2	0	GPATCH8	39832065	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	4.242000	0.58714	2.712000	0.92718	0.555000	0.69702	CGA		0.642	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		27	327	0	0	0	1	0	27	327					T	42476539	C	T	42476539	3	4	11	1	0	0	0	0	1	0	0	0	6623	884	31	1	1606	1	GPATCH8	17	42476539	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4849315	42476539	38718671	126	1242											
MAP3K14	100133991	broad.mit.edu	37	chr17	43345029	43345029	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccttggcgaaagctctctCggctgggcatggagggtctg	16	11	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:43345029C>T	ENST00000585780.1	+	0	2078				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		AAAGCTCTCTCGGCTGGGCAT	0.607																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							98	106	103					17																	43345029		1906	4123	6029			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345029C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345029C>T						MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA				Q99558	M3K14_HUMAN			0	2175	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		45	587	0	0	0	1	0	45	587					T	43345029	C	T	43345029	1	4	11	0	1	0	0	0	0	0	0	0	9289	871	31	1		1	MAP3K14	17	43345029	RNA	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	868490	43345029	37850181	127	1243											
CDC27	996	broad.mit.edu	37	chr17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgtttccgtaagaaCtgtctcaggctgtctgtgag	14	8	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V201I(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCCGTAAGAACTGTCTCAGGC	0.338																																						ENST00000066544.3																			2	Substitution - Missense(2)	p.V201I(2)	kidney(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(601-603)Gtt>Att		cell division cycle 27							58	59	59					17																	45234625		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234625C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I	p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	694	-			201					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.601G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			6	330	0	0	0	1	0	6	330					T	45234625	C	T	45234625	3	4	11	1	0	0	0	0	1	0	0	0	3075	565	20	2	1947	2	CDC27	17	45234625	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1889596	45234625	35960585	128	1244											
TEX14	56155	broad.mit.edu	37	chr17	56663333	56663333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggggctgcagcagggCgtcgggctcattttcagcct	16	10	2	0	rs201086325		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:56663333C>T	ENST00000240361.8	-	18	3002	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	TEX14_ENST00000349033.5_Missense_Mutation_p.A967T|TEX14_ENST00000389934.3_Missense_Mutation_p.A967T			Q8IWB6	TEX14_HUMAN	testis expressed 14	973					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGCAGGGCGTCGGGCTCA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17724	0.001		0.0	False		,,,				2504	0.0					ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(2899-2901)Gcc>Acc		testis expressed 14		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	140	140	140		2917,2899,2899	0.5	0	17		140	0,8600		0,0,4300	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	973/1498,967/1452,967/1492	56663333	1,13005	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56663333C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2917G>A	17.37:g.56663333C>T	ENSP00000240361:p.Ala973Thr					TEX14_ENST00000349033.5_Missense_Mutation_p.A967T|TEX14_ENST00000240361.8_Missense_Mutation_p.A973T	p.A967T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			18	3016	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		973					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2899G>A	CCDS56042.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.33	3.094030	0.56075	2.27E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81163	-1.46;-1.46;-1.42	5.38	0.501	0.16925	.	0.525270	0.18903	N	0.128000	T	0.63283	0.2498	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49185	0.87;0.92;0.92	B;B;B	0.40165	0.171;0.321;0.321	T	0.56872	-0.7907	10	0.40728	T	0.16	-1.9391	4.4542	0.11635	0.2296:0.3843:0.3861:0.0	.	973;967;967	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	973;967;967	ENSP00000240361:A973T;ENSP00000374584:A967T;ENSP00000268910:A967T	ENSP00000240361:A973T	A	-	1	0	TEX14	54018332	0.000000	0.05858	0.026000	0.17262	0.021000	0.10359	-0.221000	0.09202	0.601000	0.29879	-0.311000	0.09066	GCC		0.507	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			8	717	0	0	0	1	0	8	717					T	56663333	C	T	56663333	3	4	11	1	0	0	0	0	1	0	0	0	15830	768	27	1	1640	1	TEX14	17	56663333	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	11428708	56663333	24531877	129	1245											
UNC13D	201294	broad.mit.edu	37	chr17	73836181	73836181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggctgcgagcggctggccGaagtggctctctgcaatgag	16	11	1	1	rs202020396		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:73836181G>A	ENST00000207549.4	-	11	1248	c.869C>T	c.(868-870)tCg>tTg	p.S290L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	290	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCTGGCCGAAGTGGCTCT	0.667									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		13692	0.0		0.0	False		,,,				2504	0.001					ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	GRCh37	CM060506	UNC13D	M		c.(868-870)tCg>tTg		unc-13 homolog D (C. elegans)							25	29	28					17																	73836181		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836181G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.869C>T	17.37:g.73836181G>A	ENSP00000207549:p.Ser290Leu					UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L	p.S290L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1248	-			290			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.869C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	5.902	0.350463	0.11182	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71341	-0.54;-0.56	4.35	-8.7	0.00851	.	2.024690	0.02792	N	0.122211	T	0.38878	0.1057	N	0.04203	-0.255	0.09310	N	1	B;B	0.25486	0.001;0.127	B;B	0.14023	0.001;0.01	T	0.39981	-0.9587	10	0.33940	T	0.23	0.942	1.8052	0.03079	0.4553:0.1975:0.1707:0.1765	.	290;290	B4DTQ6;Q70J99	.;UN13D_HUMAN	L	290	ENSP00000207549:S290L;ENSP00000388093:S290L	ENSP00000207549:S290L	S	-	2	0	UNC13D	71347776	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-1.869000	0.01643	-3.304000	0.00192	-1.008000	0.02478	TCG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		8	79	0	0	0	1	0	8	79					A	73836181	G	A	73836181	3	1	11	1	0	0	0	0	1	0	0	0	17041	1059	37	1	2491	1	UNC13D	17	73836181	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	17172848	73836181	7359029	130	1246											
LAMA1	284217	broad.mit.edu	37	chr18	7032156	7032156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtattccatccacgcggTaatagccagagaggcacgac	11	11	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:7032156T>C	ENST00000389658.3	-	16	2276	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	728	Laminin EGF-like 5; second part. {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)			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)				ATCCACGCGGTAATAGCCAGA	0.478																																						ENST00000389658.3																			0				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						c.(2182-2184)tAc>tGc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89	71	77					18																	7032156		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.chr18:7032156T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2183A>G	18.37:g.7032156T>C	ENSP00000374309:p.Tyr728Cys						p.Y728C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			16	2276	-		Colorectal(10;0.172)	728			Laminin EGF-like 5; second part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2183A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.408948	0.62399	.	.	ENSG00000101680	ENST00000389658	T	0.64260	-0.09	5.51	5.51	0.81932	EGF-like, laminin (2);	0.084479	0.48767	D	0.000165	T	0.82217	0.4989	M	0.89715	3.055	0.49130	D	0.999755	D	0.89917	1.0	D	0.87578	0.998	D	0.85319	0.1083	10	0.54805	T	0.06	.	14.1917	0.65641	0.0:0.0:0.0:1.0	.	728	P25391	LAMA1_HUMAN	C	728	ENSP00000374309:Y728C	ENSP00000374309:Y728C	Y	-	2	0	LAMA1	7022156	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	3.955000	0.56715	2.080000	0.62538	0.533000	0.62120	TAC		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		10	144	0	0	0	1	0	10	144					C	7032156	T	C	7032156	3	2	11	1	0	0	0	0	1	0	0	0	8636	1638	57	4	7236	4	LAMA1	18	7032156	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		7032156	71045092	131	1247											
C18orf19	125228	broad.mit.edu	37	chr18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-													gcaaaggatcaggctcttccTttttttccggagttccctga							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		9	946						9	946	---	---	---	---	-	13681751	T	-	13681751	7	5	11	1	0	1	0	1	0	0	0	0	1903	1609	56	0	504	0	C18orf19	18	13681751	Frame_Shift_Del	DEL	T	TCGA-2J-AABO-01A-21D-A40W-08	6649595	13681751	64395497	132	1248											
DSEL	92126	broad.mit.edu	37	chr18	65178609	65178609	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctcaatggttcatactcGaaagcataacccgaatttaa	5	10	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3265-3267)ttC>ttT		dermatan sulfate epimerase-like							69	66	67					18																	65178609		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178609G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3267C>T	18.37:g.65178609G>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.F1089F	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4740	-		Esophageal squamous(42;0.129)	1079					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3267C>T	CCDS11995.1																																																																																				0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		6	334	0	0	0	1	0	6	334					A	65178609	G	A	65178609	2	1	11	1	0	0	0	0	0	0	0	1	4791	1049	37	1		1	DSEL	18	65178609	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	51496858	65178609	12898639	133	1249											
ATP8B3	148229	broad.mit.edu	37	chr19	1791840	1791840	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcctggagtctgtcctcGatggctgtggctcccagcag	13	14	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:1791840G>A	ENST00000310127.6	-	20	2449	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	ATP8B3_ENST00000539485.1_Silent_p.I747I|ATP8B3_ENST00000525591.1_Silent_p.I700I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGTCCTCGATGGCTGTGG	0.627																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2239-2241)atC>atT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							54	56	55					19																	1791840		2040	4180	6220	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791840G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2211C>T	19.37:g.1791840G>A						ATP8B3_ENST00000310127.6_Silent_p.I737I|ATP8B3_ENST00000525591.1_Silent_p.I700I	p.I747I			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2474	-		Hepatocellular(1079;0.137)	737					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.2241C>T	CCDS45901.1																																																																																				0.627	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	193	0	0	0	1	0	4	193					A	1791840	G	A	1791840	2	1	11	1	0	0	0	0	0	0	0	1	1197	1048	37	1		1	ATP8B3	19	1791840	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		1791840	57337143	134	1250											
RAX2	84839	broad.mit.edu	37	chr19	3771573	3771573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgccagctcctcacgGctgtacacatccgggtagtg	12	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:3771573G>T	ENST00000555633.1	-	2	508	c.168C>A	c.(166-168)agC>agA	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTCACGGCTGTACACAT	0.627																																						ENST00000555633.1																			0				large_intestine(1)	1						c.(166-168)agC>agA		retina and anterior neural fold homeobox 2							60	48	52					19																	3771573		2197	4297	6494	SO:0001583	missense	84839				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3771573G>T	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"Homeoboxes / PRD class"	18286	protein-coding gene	gene with protein product		610362	"retina and anterior neural fold homeobox like 1"	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.168C>A	19.37:g.3771573G>T	ENSP00000450456:p.Ser56Arg					RAX2_ENST00000555978.1_Missense_Mutation_p.S56R	p.S56R			Q96IS3	RAX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	2	508	-		Hepatocellular(1079;0.137)	56						Missense_Mutation	SNP	ENST00000555633.1	37	c.168C>A	CCDS12112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.87|17.87	3.496105|3.496105	0.64186|0.64186	.|.	.|.	ENSG00000173976|ENSG00000173976	ENST00000555978|ENST00000555633;ENST00000395106	.|D	.|0.95035	.|-3.59	3.52|3.52	1.26|1.26	0.21427|0.21427	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.37304	.|U	.|0.002147	D|D	0.90259|0.90259	0.6954|0.6954	N|N	0.03194|0.03194	-0.395|-0.395	0.51233|0.51233	D|D	0.999912|0.999912	.|D;D	.|0.61697	.|0.99;0.958	.|D;P	.|0.66979	.|0.948;0.824	D|D	0.87913|0.87913	0.2698|0.2698	5|10	.|0.72032	.|D	.|0.01	.|.	6.8196|6.8196	0.23849|0.23849	0.3119:0.0:0.688:0.0|0.3119:0.0:0.688:0.0	.|.	.|56;102	.|Q96IS3;G3V243	.|RAX2_HUMAN;.	T|R	76|102;56	.|ENSP00000450456:S102R	.|ENSP00000378538:S56R	P|S	-|-	1|3	0|2	RAX2|RAX2	3722573|3722573	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.894000|0.894000	0.52154|0.52154	2.372000|2.372000	0.44257|0.44257	0.468000|0.468000	0.27243|0.27243	0.561000|0.561000	0.74099|0.74099	CCG|AGC		0.627	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2	NM_032753		5	46	1	0	3.59834e-05	1	3.72295e-05	5	46					T	3771573	G	T	3771573	3	4	11	1	0	0	0	0	1	0	0	0	13147	1194	42	3	394	3	RAX2	19	3771573	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1979733	3771573	55357410	135	1251											
PLIN4	729359	broad.mit.edu	37	chr19	4511956	4511956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccacattcacagcactGgtcaccccactgccaaaggt	8	15	2	0	rs539563816		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:4511956G>A	ENST00000301286.3	-	3	1973	c.1974C>T	c.(1972-1974)acC>acT	p.T658T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	658	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACAGCACTGGTCACCCCAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24918	0.0		0.0	False		,,,				2504	0.0					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1972-1974)acC>acT		perilipin 4							95	104	101					19																	4511956		2048	4186	6234	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511956G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1974C>T	19.37:g.4511956G>A							p.T658T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1973	-			658			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1974C>T	CCDS45927.1																																																																																				0.582	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		61	539	0	0	0	1	0	61	539					A	4511956	G	A	4511956	2	1	11	1	0	0	0	0	0	0	0	1	12134	1335	47	2		2	PLIN4	19	4511956	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	740383	4511956	54617027	136	1252											
SAFB	6294	broad.mit.edu	37	chr19	5654163	5654163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaaaagagtaaggaccaaGatgatcagaaacctggcccc	11	9	1	5	rs11542075|rs34855450		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:5654163G>A	ENST00000292123.5	+	12	1725	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000592224.1_Missense_Mutation_p.D540N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	540	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAAGGACCAAGATGATCAGAA	0.463																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1618-1620)Gat>Aat		scaffold attachment factor B							113	105	107					19																	5654163		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5654163G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1618G>A	19.37:g.5654163G>A	ENSP00000292123:p.Asp540Asn					SAFB_ENST00000592224.1_Missense_Mutation_p.D540N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N	p.D540N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	12	1725	+			540			Interaction with POLR2A.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1618G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656306	0.67586	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12569	2.72;2.86;2.69;2.67	5.34	4.29	0.51040	.	0.103415	0.42682	D	0.000680	T	0.16128	0.0388	L	0.57536	1.79	0.44036	D	0.996762	B;P;B;B;B;B;B	0.37824	0.321;0.609;0.449;0.11;0.11;0.11;0.11	B;B;B;B;B;B;B	0.36885	0.101;0.235;0.205;0.074;0.119;0.074;0.119	T	0.01909	-1.1249	10	0.59425	D	0.04	-27.4843	13.4452	0.61136	0.0766:0.0:0.9234:0.0	.	339;383;471;540;540;540;540	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	N	471;435;370;540;383	ENSP00000415895:D471N;ENSP00000404545:D370N;ENSP00000292123:D540N;ENSP00000438880:D383N	ENSP00000292123:D540N	D	+	1	0	SAFB	5605163	0.966000	0.33281	0.886000	0.34754	0.994000	0.84299	3.458000	0.53014	2.654000	0.90174	0.563000	0.77884	GAT		0.463	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			31	286	0	0	0	1	0	31	286					A	5654163	G	A	5654163	3	1	11	1	0	0	0	0	1	0	0	0	13856	942	33	2	1664	2	SAFB	19	5654163	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1142207	5654163	53474820	137	1253											
OR7D2	162998	broad.mit.edu	37	chr19	9296718	9296718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggtgaacatccagacCgagaacaaagccatctccta	8	12	1	3	rs139213903		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:9296718C>T	ENST00000344248.2	+	1	440	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	87					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACATCCAGACCGAGAACAAAG	0.507																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(259-261)acC>acT		olfactory receptor, family 7, subfamily D, member 2		C		0,4406		0,0,2203	167	155	159		261	-0.1	0	19	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7D2	NM_175883.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		87/313	9296718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296718C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.261C>T	19.37:g.9296718C>T							p.T87T	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	440	+			87					Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.261C>T	CCDS32900.1																																																																																				0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			5	511	0	0	0	1	0	5	511					T	9296718	C	T	9296718	2	4	11	1	0	0	0	0	0	0	0	1	11261	639	23	1		1	OR7D2	19	9296718	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	3642555	9296718	49832265	138	1254											
NUDT19	390916	broad.mit.edu	37	chr19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-													agaagacttgcaaactttgcCtctctctctgacttgcacaa							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.45	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		8	1994						8	1994	---	---	---	---	-	33200190	CT	-	33200189	7	5	11	1	0	1	0	1	0	0	0	0	10778	668	24	0	819	0	NUDT19	19	33200189	Frame_Shift_Del	DEL	CT	TCGA-2J-AABO-01A-21D-A40W-08	23903471	33200189	25928794	139	1255											
FXYD1	5348	broad.mit.edu	37	chr19	35631514	35631515	+	Frame_Shift_Ins	INS	-	-	C													ttccagaaagtccaaaggaaINScacgacccgttcacttacgg							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:35631514_35631515insC	ENST00000588081.1	+	2	133_134	c.75_76insC	c.(76-78)cacfs	p.H26fs	FXYD1_ENST00000455515.2_Frame_Shift_Ins_p.H26fs|FXYD1_ENST00000589209.1_Frame_Shift_Ins_p.H26fs|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000351325.4_Frame_Shift_Ins_p.H26fs|FXYD1_ENST00000588607.1_Frame_Shift_Ins_p.H26fs|FXYD7_ENST00000586063.1_5'Flank|FXYD1_ENST00000588715.1_Frame_Shift_Ins_p.H26fs|FXYD7_ENST00000270310.2_5'Flank|FXYD7_ENST00000588265.1_5'Flank|LGI4_ENST00000493050.1_Intron			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	26					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCCAAAGGAACACGACCCGTT	0.584																																						ENST00000588081.1																			0				lung(3)	3						c.(73-78)gaacgafs		FXYD domain containing ion transport regulator 1																																				SO:0001589	frameshift_variant	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35631514_35631515insC		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"phospholemman"	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.76dupC	19.37:g.35631515_35631515dupC	ENSP00000467727:p.His26fs					FXYD1_ENST00000589209.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588715.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000455515.2_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588607.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000351325.4_Frame_Shift_Ins_p.ER25fs|LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA	p.ER25fs			O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	133_134	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		25					A8K196	Frame_Shift_Ins	INS	ENST00000588081.1	37	c.75_76insC	CCDS12445.1																																																																																				0.584	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		7	827						7	827	---	---	---	---	C	35631515	-	C	35631514	7	5	11	1	0	1	1	0	0	0	0	0	6144	40	2	0	81	0	FXYD1	19	35631514	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	2431325	35631514	23497469	140	1256											
SLC8A2	6543	broad.mit.edu	37	chr19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtgatctccttctcttttGacgtgatgacctcgatggcc	10	11	2	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(304-306)tCa>tTa		solute carrier family 8 (sodium/calcium exchanger), member 2							139	89	106					19																	47969356		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969356G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.305C>T	19.37:g.47969356G>A	ENSP00000236877:p.Ser102Leu					SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.S102L	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	700	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	102					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.305C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048442	0.75846	.	.	ENSG00000118160	ENST00000236877	T	0.64438	-0.1	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90331	0.4352	10	0.87932	D	0	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	102	Q9UPR5	NAC2_HUMAN	L	102	ENSP00000236877:S102L	ENSP00000236877:S102L	S	-	2	0	SLC8A2	52661168	1.000000	0.71417	0.828000	0.32881	0.520000	0.34377	9.587000	0.98229	2.210000	0.71456	0.462000	0.41574	TCA		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			30	269	0	0	0	1	0	30	269					A	47969356	G	A	47969356	3	1	11	1	0	0	0	0	1	0	0	0	14757	1294	45	2	2496	2	SLC8A2	19	47969356	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	12337842	47969356	11159627	141	1257											
C19orf63	284361	broad.mit.edu	37	chr19	50983419	50983419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggatcccaaggcgacccGgggccctggatggcctggaa	15	14	0	0	rs140693786	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:50983419G>A	ENST00000334976.6	+	4	395	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000376918.3_Missense_Mutation_p.G117R|EMC10_ENST00000598585.1_Missense_Mutation_p.G117R	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	117						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											AAGGCGACCCGGGGCCCTGGA	0.637													G|||	7	0.00139776	0.0	0.0	5008	,	,		17306	0.001		0.006	False		,,,				2504	0.0					ENST00000376918.3																			0											c.(349-351)Ggg>Agg		ER membrane protein complex subunit 10		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	75	68	70		349,349	2.9	0.2	19	dbSNP_134	70	41,8559	26.8+/-75.7	0,41,4259	yes	missense,missense	C19orf63	NM_175063.4,NM_206538.2	125,125	0,42,6461	AA,AG,GG		0.4767,0.0227,0.3229	probably-damaging,probably-damaging	117/255,117/263	50983419	42,12964	2203	4300	6503	SO:0001583	missense	284361							g.chr19:50983419G>A	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.349G>A	19.37:g.50983419G>A	ENSP00000334037:p.Gly117Arg					CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.G117R|EMC10_ENST00000598585.1_Missense_Mutation_p.G117R	p.G117R	NM_175063.4	NP_778233.4					4	395	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	c.349G>A	CCDS12796.1	6	0.0027472527472527475	0	0.0	0	0.0	1	0.0017482517482517483	5	0.006596306068601583	G	11.41	1.631978	0.29068	2.27E-4	0.004767	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	3.92	2.87	0.33458	.	0.113318	0.64402	D	0.000018	T	0.59622	0.2207	L	0.59436	1.845	0.40649	D	0.982016	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.975;1.0;0.985	T	0.61422	-0.7066	9	0.16896	T	0.51	-32.1407	11.1387	0.48390	0.097:0.0:0.903:0.0	.	117;117;117	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	R	117	.	ENSP00000334037:G117R	G	+	1	0	C19orf63	55675231	0.903000	0.30736	0.198000	0.23420	0.025000	0.11179	1.555000	0.36277	0.939000	0.37446	-0.258000	0.10820	GGG		0.637	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		9	84	0	0	0	1	0	9	84					A	50983419	G	A	50983419	3	1	11	1	0	0	0	0	1	0	0	0	1952	1116	39	1	363	1	C19orf63	19	50983419	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	3014063	50983419	8145564	142	1258											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	340						10	340	---	---	---	---	-	54675749	TCC	-	54675747	7	5	11	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AABO-01A-21D-A40W-08	3692328	54675747	4453236	143	1259											
ZNF835	90485	broad.mit.edu	37	chr19	57175926	57175926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcgcccgtgtgcacgCgccggtgctgggtcaggtgc	17	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:57175926C>T	ENST00000537055.2	-	2	872	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	214					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCACGCGCCGGTGCTG	0.721																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(640-642)cGc>cAc		zinc finger protein 835							17	17	17					19																	57175926		2195	4262	6457	SO:0001583	missense	90485							g.chr19:57175926C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.641G>A	19.37:g.57175926C>T	ENSP00000444747:p.Arg214His						p.R214H	NM_001005850.2	NP_001005850.2					2	872	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.641G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763428	0.69763	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25749	1.78	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49253	0.1546	M	0.76838	2.35	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21314	-1.0249	9	0.87932	D	0	.	10.2869	0.43573	0.0:1.0:0.0:0.0	.	236	Q9Y2P0	ZN835_HUMAN	H	236;214	ENSP00000444747:R214H	ENSP00000341756:R236H	R	-	2	0	ZNF835	61867738	0.000000	0.05858	0.049000	0.19019	0.502000	0.33828	-0.055000	0.11807	1.506000	0.48736	0.561000	0.74099	CGC		0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	70	0	0	0	1	0	5	70					T	57175926	C	T	57175926	3	4	11	1	0	0	0	0	1	0	0	0	18239	768	27	1	974	1	ZNF835	19	57175926	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	2500179	57175926	1953057	144	1260											
ZNF256	10172	broad.mit.edu	37	chr19	58453978	58453978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtggagaagtgctctgCtgataaggtgcctcctcatc	12	11	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:58453978C>T	ENST00000282308.3	-	3	394	c.198G>A	c.(196-198)caG>caA	p.Q66Q	ZNF256_ENST00000598928.1_Missense_Mutation_p.S24N	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGTGCTCTGCTGATAAGGTG	0.532																																					NSCLC(55;1313 1552 8040 11996)	ENST00000598928.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(70-72)aGc>aAc		zinc finger protein 256							102	102	102					19																	58453978		2203	4298	6501	SO:0001819	synonymous_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453978C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.198G>A	19.37:g.58453978C>T						ZNF256_ENST00000282308.3_Silent_p.Q66Q	p.S24N			Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	2	271	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	396			KRAB.		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.71G>A	CCDS12966.1																																																																																				0.532	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			150	430	0	0	0	1	0	150	430					T	58453978	C	T	58453978	2	4	11	1	0	0	0	0	0	0	0	1	17852	796	28	2		2	ZNF256	19	58453978	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1278052	58453978	675005	145	1261											
C20orf46	55321	broad.mit.edu	37	chr20	1161700	1161700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaccgacaagagcatgCcgcccaccgtgagcagcccg	12	17	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:1161700C>T	ENST00000381894.3	-	2	1234	c.563G>A	c.(562-564)gGc>gAc	p.G188D	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	188						integral component of membrane (GO:0016021)											CAAGAGCATGCCGCCCACCGT	0.657																																						ENST00000381894.3																			0											c.(562-564)gGc>gAc		transmembrane protein 74B							54	40	45					20																	1161700		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161700C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.563G>A	20.37:g.1161700C>T	ENSP00000371318:p.Gly188Asp						p.G188D	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1234	-			188					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.563G>A	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694216	0.88735	.	.	ENSG00000125895	ENST00000381894	T	0.25912	1.77	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000004	T	0.50377	0.1612	M	0.72353	2.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.56384	-0.7988	10	0.87932	D	0	-14.8878	15.6112	0.76721	0.0:1.0:0.0:0.0	.	188	Q9NUR3	CT046_HUMAN	D	188	ENSP00000371318:G188D	ENSP00000371318:G188D	G	-	2	0	C20orf46	1109700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.186000	0.69663	0.655000	0.94253	GGC		0.657	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		5	350	0	0	0	1	0	5	350					T	1161700	C	T	1161700	3	4	11	1	0	0	0	0	1	0	0	0	2120	739	26	2	211	2	C20orf46	20	1161700	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		1161700	61863820	146	1262											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674202	3674202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacgttgggcagggggaTggagtgggcatccaggcgct	20	7	0	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:3674202T>C	ENST00000344754.4	-	13	3399	c.3400A>G	c.(3400-3402)Atc>Gtc	p.I1134V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGGGGATGGAGTGGGCA	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3400-3402)Atc>Gtc		sialic acid binding Ig-like lectin 1, sialoadhesin							62	48	53					20																	3674202		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674202T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "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"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3400A>G	20.37:g.3674202T>C	ENSP00000341141:p.Ile1134Val					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			13	3399	-			1134			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3400A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	5.206	0.223588	0.09863	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.11712	2.75;2.75	5.52	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000692	T	0.09024	0.0223	L	0.35542	1.07	0.24899	N	0.992116	B;B	0.19935	0.04;0.014	B;B	0.24974	0.057;0.027	T	0.22695	-1.0209	10	0.45353	T	0.12	.	9.2318	0.37441	0.0:0.0:0.3576:0.6424	.	1134;1134	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1134	ENSP00000341141:I1134V;ENSP00000202578:I1134V	ENSP00000202578:I1134V	I	-	1	0	SIGLEC1	3622202	1.000000	0.71417	0.930000	0.37139	0.011000	0.07611	0.477000	0.22196	0.915000	0.36847	0.533000	0.62120	ATC		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		11	117	0	0	0	1	0	11	117					C	3674202	T	C	3674202	3	2	11	1	0	0	0	0	1	0	0	0	14355	1464	51	4	1765	4	SIGLEC1	20	3674202	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	2512502	3674202	59351318	147	1263											
RALGAPA2	57186	broad.mit.edu	37	chr20	20563724	20563724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcatcggtgggactcaGttgtaaccaatgacgggcat	13	8	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:20563724G>T	ENST00000202677.7	-	20	2684	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	893					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGACTCAGTTGTAACCAA	0.468																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2677-2679)Ctg>Atg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							82	80	81					20																	20563724		1953	4159	6112	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20563724G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2677C>A	20.37:g.20563724G>T	ENSP00000202677:p.Leu893Met						p.L893M	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			20	2819	-			893					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2677C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.691060|2.691060	0.48097|0.48097	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.70164|.	-0.46|.	6.07|6.07	4.13|4.13	0.48395|0.48395	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.67135|0.67135	0.2861|0.2861	M|M	0.76328|0.76328	2.33|2.33	0.36785|0.36785	D|D	0.884564|0.884564	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.71184|.	0.972;0.931|.	T|T	0.73257|0.73257	-0.4040|-0.4040	10|5	0.40728|.	T|.	0.16|.	.|.	10.5141|10.5141	0.44879|0.44879	0.2044:0.0:0.7956:0.0|0.2044:0.0:0.7956:0.0	.|.	731;893|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	M|K	893|709	ENSP00000202677:L893M|.	ENSP00000202677:L893M|.	L|N	-|-	1|3	2|2	RALGAPA2|RALGAPA2	20511724|20511724	0.961000|0.961000	0.32948|0.32948	0.992000|0.992000	0.48379|0.48379	0.608000|0.608000	0.37181|0.37181	1.380000|1.380000	0.34351|0.34351	1.581000|1.581000	0.49865|0.49865	0.655000|0.655000	0.94253|0.94253	CTG|AAC		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		7	251	1	0	5.4927e-09	1	5.78307e-09	7	251					T	20563724	G	T	20563724	3	4	11	1	0	0	0	0	1	0	0	0	13064	1020	36	3	3024	3	RALGAPA2	20	20563724	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	16889522	20563724	42461796	148	1264											
RIMS4	140730	broad.mit.edu	37	chr20	43384834	43384834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaactgggatgcctgccGgagcagggggcctgtggctg	19	10	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:43384834G>A	ENST00000372851.3	-	6	817	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	251					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GATGCCTGCCGGAGCAGGGGG	0.662																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(751-753)Cgg>Tgg		regulating synaptic membrane exocytosis 4							59	59	59					20																	43384834		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43384834G>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.751C>T	20.37:g.43384834G>A	ENSP00000361942:p.Arg251Trp					RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	p.R251W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			6	817	-		Myeloproliferative disorder(115;0.0122)	251					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.751C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044559	0.75732	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.24151	1.87;1.87	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.44802	-0.9304	10	0.87932	D	0	.	13.2074	0.59805	0.0:0.0:0.8409:0.1591	.	252;251	E1P613;Q9H426	.;RIMS4_HUMAN	W	251;252	ENSP00000361942:R251W;ENSP00000439287:R252W	ENSP00000361942:R251W	R	-	1	2	RIMS4	42818248	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.563000	0.67352	2.285000	0.76669	0.563000	0.77884	CGG		0.662	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		96	310	0	0	0	1	0	96	310					A	43384834	G	A	43384834	3	1	11	1	0	0	0	0	1	0	0	0	13420	1115	39	1	62	1	RIMS4	20	43384834	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	22821110	43384834	19640686	149	1265											
TAF4	6874	broad.mit.edu	37	chr20	60587922	60587923	+	Frame_Shift_Ins	INS	-	-	GCCT													tgggctgcaccgttgtctggINSgcctgagacacttgcttaat							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:60587922_60587923insGCCT	ENST00000252996.4	-	3	1588_1589	c.1589_1590insAGGC	c.(1588-1590)gccfs	p.-530fs	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCGTTGTCTGGGCCTGAGACAC	0.589																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1588-1590)gcafs		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa																																				SO:0001589	frameshift_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60587922_60587923insGCCT	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1586_1589dupAGGC	20.37:g.60587923_60587926dupGCCT	ENSP00000252996:p.Ala530fs						p.-529fs	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		3	1588_1589	-	Breast(26;1e-08)							A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Frame_Shift_Ins	INS	ENST00000252996.4	37	c.1589_1590insAGGC	CCDS33500.1																																																																																				0.589	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		81	500						81	500	---	---	---	---	GCCT	60587923	-	GCCT	60587922	7	5	11	1	0	1	1	0	0	0	0	0	15578	1219	43	0	1719	0	TAF4	20	60587922	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	17203088	60587922	2437598	150	1266											
DSCR4	10281	broad.mit.edu	37	chr21	39492431	39492431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcaagtccagaatccGtaggagaagctggcaggctg	16	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:39492431G>A	ENST00000328264.3	-	2	304	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DSCR8_ENST00000357704.4_5'Flank|DSCR8_ENST00000400477.3_5'Flank|DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	67										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						tccagaatccgtaggagaagc	0.363																																						ENST00000328264.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						c.(199-201)aCg>aTg		Down syndrome critical region gene 4							48	55	53					21																	39492431		2203	4300	6503	SO:0001583	missense	10281							g.chr21:39492431G>A	AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.200C>T	21.37:g.39492431G>A	ENSP00000328676:p.Thr67Met					DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN			2	304	-			67					Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	c.200C>T	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	G	7.406	0.633692	0.14322	.	.	ENSG00000184029	ENST00000398948;ENST00000328264	.	.	.	1.45	-2.03	0.07365	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	D	0.63880	0.993	B	0.41860	0.368	T	0.13602	-1.0503	7	0.87932	D	0	.	0.4825	0.00550	0.1868:0.246:0.3187:0.2485	.	67	P56555	DSCR4_HUMAN	M	67	.	ENSP00000328676:T67M	T	-	2	0	DSCR4	38414301	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	0.033000	0.13754	-0.677000	0.05231	0.313000	0.20887	ACG		0.363	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		11	295	0	0	0	1	0	11	295					A	39492431	G	A	39492431	3	1	11	1	0	0	0	0	1	0	0	0	4788	1145	40	1	164	1	DSCR4	21	39492431	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		39492431	8637464	151	1267											
DSCAM	1826	broad.mit.edu	37	chr21	41447025	41447025	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagcaggagcacaaaCagcagcaagacccccaccag	8	16	0	1	rs371238790		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:41447025C>A	ENST00000400454.1	-	27	5304	c.4827G>T	c.(4825-4827)ctG>ctT	p.L1609L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1609					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGCACAAACAGCAGCAAGA	0.592																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4825-4827)ctG>ctT		Down syndrome cell adhesion molecule							94	110	105					21																	41447025		2120	4232	6352	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447025C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4827G>T	21.37:g.41447025C>A							p.L1609L	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			27	5304	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1609					O60468	Silent	SNP	ENST00000400454.1	37	c.4827G>T	CCDS42929.1																																																																																				0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	169	1	0	0.000978159	1	0.00099906	12	169					A	41447025	C	A	41447025	2	1	11	1	0	0	0	0	0	0	0	1	4784	465	17	3		3	DSCAM	21	41447025	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1954594	41447025	6682870	152	1268											
POTEH	23784	broad.mit.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110	126	120					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		15	2936	0	0	0	1	0	15	2936					G	16287673	C	G	16287673	3	3	11	1	0	0	0	0	1	0	0	0	12309	508	18	5	1464	5	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		16287673	35016893	153	1269											
MYO18B	84700	broad.mit.edu	37	chr22	26165019	26165019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagcaggtgagcttcGgagcacgactgggaaggcag	18	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26165019G>A	ENST00000407587.2	+	4	1305	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R379Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:12209013}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						GGTGAGCTTCGGAGCACGACT	0.577																																						ENST00000335473.7																			0				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						c.(1135-1137)cGg>cAg		myosin XVIIIB							37	41	40					22																	26165019		2091	4217	6308	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165019G>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.1136G>A	22.37:g.26165019G>A	ENSP00000386096:p.Arg379Gln					MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R379Q	p.R379Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1386	+			379		R -> Q (in a lung small cell carcinoma sample; somatic mutation).			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1136G>A		.	.	.	.	.	.	.	.	.	.	g	0.011	-1.725392	0.00694	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85955	-2.03;-2.03;-2.05	3.61	-7.22	0.01485	.	1.993940	0.02842	N	0.128040	T	0.58736	0.2143	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57406	-0.7817	10	0.22109	T	0.4	.	0.8732	0.01218	0.2243:0.3074:0.2432:0.2251	.	379;379;379	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Q	379	ENSP00000441229:R379Q;ENSP00000334563:R379Q;ENSP00000386096:R379Q	ENSP00000334563:R379Q	R	+	2	0	MYO18B	24495019	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.457000	0.00231	-2.713000	0.00392	-2.582000	0.00168	CGG		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	70	0	0	0	1	0	11	70					A	26165019	G	A	26165019	3	1	11	1	0	0	0	0	1	0	0	0	10107	1116	39	1	1146	1	MYO18B	22	26165019	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	9877346	26165019	25139547	154	1270											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000565764.1_RNA|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	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.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		8	466						8	466	---	---	---	---	-	26906185	TCA	-	26906183	7	5	11	1	0	1	0	1	0	0	0	0	15859	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-2J-AABO-01A-21D-A40W-08	741164	26906183	24398383	155	1271											
APOL5	80831	broad.mit.edu	37	chr22	36122258	36122258	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgcctagatgtctttagCctcactcgtgaacctgtgcc	9	12	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36122258C>T	ENST00000249044.2	+	3	143	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGTCTTTAGCCTCACTCGTG	0.443																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.e3-1		apolipoprotein L, 5							101	94	96					22																	36122258		2203	4300	6503	SO:0001630	splice_region_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122258C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.143-1C>T	22.37:g.36122258C>T							p.P48_splice	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	143	+			48					Q5TFL9|Q9UGW5	Splice_Site	SNP	ENST00000249044.2	37	c.142_splice	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803589	0.31869	.	.	ENSG00000128313	ENST00000249044	T	0.04049	3.72	2.15	-4.31	0.03698	.	4.487750	0.01131	U	0.005995	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.40534	-0.9558	9	.	.	.	.	4.0884	0.09958	0.0:0.2062:0.369:0.4248	.	48	Q9BWW9	APOL5_HUMAN	L	48	ENSP00000249044:P48L	.	P	+	2	0	APOL5	34452204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.097000	0.03349	-1.277000	0.02411	-0.731000	0.03576	CCC		0.443	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	Missense_Mutation	24	240	0	0	0	1	0	24	240					T	36122258	C	T	36122258	5	4	11	1	0	0	0	0	0	0	1	0	809	753	26	2	153	2	APOL5	22	36122258	Splice_Site	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9216075	36122258	15182308	156	1272											
MYH9	4627	broad.mit.edu	37	chr22	36681954	36681954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagccagctcatcccGctcctgctgggcctggcgct	11	18	2	0	rs569541375		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36681954G>A	ENST00000216181.5	-	36	5337	c.5107C>T	c.(5107-5109)Cgg>Tgg	p.R1703W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTCATCCCGCTCCTGCTGG	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				.|||	1	0.000199681	0.0	0.0	5008	,	,		12435	0.001		0.0	False		,,,				2504	0.0					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5107-5109)Cgg>Tgg		myosin, heavy chain 9, non-muscle							53	50	51					22																	36681954		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681954G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5107C>T	22.37:g.36681954G>A	ENSP00000216181:p.Arg1703Trp					MYH9_ENST00000475726.1_5'UTR	p.R1703W	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5337	-			1703					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5107C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472320	0.63737	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79141	-1.24	4.96	3.85	0.44370	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90126	0.4203	10	0.72032	D	0.01	.	12.1412	0.53998	0.0:0.0:0.6943:0.3057	.	1703	P35579	MYH9_HUMAN	W	1125;305;1703	ENSP00000216181:R1703W	ENSP00000216181:R1703W	R	-	1	2	MYH9	35011900	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.738000	0.55067	2.294000	0.77228	0.306000	0.20318	CGG		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	218	0	0	0	1	0	4	218					A	36681954	G	A	36681954	3	1	11	1	0	0	0	0	1	0	0	0	10083	1086	38	1	799	1	MYH9	22	36681954	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	559696	36681954	14622612	157	1273											
EP300	2033	broad.mit.edu	37	chr22	41542773	41542773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgacccaagtatgatccGtggcagtgtgccaaaccaga	10	12	0	3			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:41542773G>A	ENST00000263253.7	+	11	3303	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	695					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTATGATCCGTGGCAGTGTG	0.393			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(2083-2085)cGt>cAt		E1A binding protein p300							97	94	95					22																	41542773		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41542773G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2084G>A	22.37:g.41542773G>A	ENSP00000263253:p.Arg695His						p.R695H	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			11	3303	+			695					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2084G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538907	0.96474	.	.	ENSG00000100393	ENST00000263253	D	0.83914	-1.78	5.77	5.77	0.91146	.	0.132950	0.34178	N	0.004196	D	0.85703	0.5758	N	0.24115	0.695	0.58432	D	0.999998	D	0.76494	0.999	D	0.71656	0.974	D	0.84199	0.0449	10	0.33141	T	0.24	-2.4217	19.9922	0.97370	0.0:0.0:1.0:0.0	.	695	Q09472	EP300_HUMAN	H	695	ENSP00000263253:R695H	ENSP00000263253:R695H	R	+	2	0	EP300	39872719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.683000	0.91236	2.729000	0.93468	0.563000	0.77884	CGT		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		29	626	0	0	0	1	0	29	626					A	41542773	G	A	41542773	3	1	11	1	0	0	0	0	1	0	0	0	5166	1145	40	1	2126	1	EP300	22	41542773	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	4860819	41542773	9761793	158	1274											
HDHD1A	8226	broad.mit.edu	37	chrX	7023672	7023672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccgcacctggcatgagcGcagccgtggggaacacttcc	12	15	0	1	rs201478475		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:7023672G>A	ENST00000381077.5	-	2	345	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	90					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TGGCATGAGCGCAGCCGTGGG	0.488													g|||	2	0.000529801	0.0008	0.0	3775	,	,		12592	0.0		0.0	False		,,,				2504	0.001					ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(268-270)gCg>gTg		haloacid dehalogenase-like hydrolase domain containing 1		A	VAL/ALA,VAL/ALA,,VAL/ALA	0,3435		0,0,0,1432,571	53	57	56		338,269,,269	2.1	0	X		56	8,6509		0,3,5,2353,1800	yes	missense,missense,intron,missense	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	64,64,,64	0,3,5,3785,2371	AA,AG,A,GG,G		0.1228,0.0,0.0804	benign,benign,,benign	113/252,90/209,,90/229	7023672	8,9944	2003	4161	6164	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023672G>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.269C>T	X.37:g.7023672G>A	ENSP00000370467:p.Ala90Val					HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Intron	p.A90V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	345	-			90					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.269C>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.773486	0.31411	0.0	0.001228	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	4.01	2.1	0.27182	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.713952	0.13959	N	0.350986	T	0.02727	0.0082	N	0.17379	0.485	0.09310	N	1	D;B;P;B	0.59767	0.986;0.076;0.59;0.166	B;B;B;B	0.30179	0.112;0.041;0.022;0.009	T	0.47761	-0.9092	10	0.36615	T	0.2	-41.8634	7.339	0.26625	0.0:0.1602:0.506:0.3338	.	90;113;90;90	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	V	90;106;113;90;90	ENSP00000370467:A90V;ENSP00000396452:A113V;ENSP00000441208:A90V;ENSP00000430995:A90V	ENSP00000370467:A90V	A	-	2	0	HDHD1	7033672	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-0.171000	0.09883	0.067000	0.16545	0.597000	0.82753	GCG		0.488	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		3	62	0	0	0	1	0	3	62					A	7023672	G	A	7023672	3	1	11	1	0	0	0	0	1	0	0	0	7052	1087	38	1	550	1	HDHD1A	23	7023672	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		7023672	148246888	159	1275											
TLR8	51311	broad.mit.edu	37	chrX	12939864	12939864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgataaatgagctgcGctaccaccttgaagagagcc	12	10	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:12939864G>A	ENST00000218032.6	+	2	2792	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	902	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AATGAGCTGCGCTACCACCTT	0.478																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2704-2706)cGc>cAc		toll-like receptor 8							123	120	121					X																	12939864		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939864G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2705G>A	X.37:g.12939864G>A	ENSP00000218032:p.Arg902His					TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	p.R902H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2792	+			902			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2705G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604067	0.66445	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08102	3.13;3.13	5.97	5.1	0.69264	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.38959	N	0.001508	T	0.26702	0.0653	M	0.78637	2.42	0.44595	D	0.997569	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.01215	-1.1416	10	0.66056	D	0.02	.	8.7627	0.34685	0.08:0.0:0.7253:0.1947	.	902;920	Q9NR97;D1CS70	TLR8_HUMAN;.	H	902;920	ENSP00000218032:R902H;ENSP00000312082:R920H	ENSP00000218032:R902H	R	+	2	0	TLR8	12849785	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.451000	0.80668	1.282000	0.44496	0.600000	0.82982	CGC		0.478	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		67	310	0	0	0	1	0	67	310					A	12939864	G	A	12939864	3	1	11	1	0	0	0	0	1	0	0	0	16009	1087	38	1	2711	1	TLR8	23	12939864	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	5916192	12939864	142330696	160	1276											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		11	252						11	252	---	---	---	---	-	13764946	A	-	13764946	7	5	11	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-2J-AABO-01A-21D-A40W-08	825082	13764946	141505614	161	1277											
MAGEB2	4113	broad.mit.edu	37	chrX	30236753	30236753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagaaacgccgcaaggcccGagatgagacccggggtctca	14	12	1	3	rs199746320		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:30236753G>A	ENST00000378988.4	+	2	157	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGCAAGGCCCGAGATGAGACC	0.552													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13433	0.0		0.0	False		,,,				2504	0.0					ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(55-57)cGa>cAa		melanoma antigen family B, 2							37	36	37					X																	30236753		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236753G>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.56G>A	X.37:g.30236753G>A	ENSP00000368273:p.Arg19Gln						p.R19Q	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	157	+			19					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.56G>A	CCDS14219.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.12	1.263218	0.23051	.	.	ENSG00000099399	ENST00000378988	T	0.04015	3.73	3.43	-0.481	0.12082	Melanoma associated antigen, MAGE, N-terminal (1);	1.269310	0.05610	N	0.577923	T	0.03348	0.0097	L	0.38733	1.17	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.45906	-0.9229	10	0.14656	T	0.56	.	6.2626	0.20910	0.528:0.0:0.472:0.0	.	19	O15479	MAGB2_HUMAN	Q	19	ENSP00000368273:R19Q	ENSP00000368273:R19Q	R	+	2	0	MAGEB2	30146674	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.141000	0.16076	-0.251000	0.09542	0.513000	0.50165	CGA		0.552	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		4	64	0	0	0	1	0	4	64					A	30236753	G	A	30236753	3	1	11	1	0	0	0	0	1	0	0	0	9217	1058	37	1	58	1	MAGEB2	23	30236753	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	16471807	30236753	125033807	162	1278											
PCDH11X	27328	broad.mit.edu	37	chrX	91090535	91090535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgggacgtacattttcgCggtcctgctagcatgcgtgg	14	11	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(31-33)gCg>gTg		protocadherin 11 X-linked							132	105	114					X																	91090535		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090535C>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.32C>T	X.37:g.91090535C>T	ENSP00000362186:p.Ala11Val					PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A11V	p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	877	+			11					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.32C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387562	0.25031	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.73;0.76;0.77;0.72;0.78;0.77;0.75;0.78;0.78	3.93	3.93	0.45458	.	0.251193	0.32769	N	0.005671	T	0.38134	0.1029	L	0.29908	0.895	0.30046	N	0.812228	P;B;P;P;P;P;B;P	0.44139	0.703;0.296;0.827;0.827;0.827;0.735;0.28;0.526	B;B;B;B;B;B;B;B	0.43155	0.168;0.055;0.41;0.41;0.41;0.233;0.047;0.047	T	0.30621	-0.9972	10	0.23891	T	0.37	.	14.4725	0.67526	0.0:1.0:0.0:0.0	.	11;11;11;11;11;11;11;11	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	11	ENSP00000378746:A11V;ENSP00000362186:A11V;ENSP00000362189:A11V;ENSP00000355040:A11V;ENSP00000362180:A11V;ENSP00000423762:A11V;ENSP00000355105:A11V;ENSP00000384758:A11V;ENSP00000298274:A11V	ENSP00000298274:A11V	A	+	2	0	PCDH11X	90977191	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.861000	0.56002	1.935000	0.56089	0.415000	0.27848	GCG		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	179	0	0	0	1	0	25	179					T	91090535	C	T	91090535	3	4	11	1	0	0	0	0	1	0	0	0	11550	768	27	1	34	1	PCDH11X	23	91090535	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	60853782	91090535	64180025	163	1279											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	162						7	162	---	---	---	---	-	119694119	GAG	-	119694117	7	5	11	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-2J-AABO-01A-21D-A40W-08	28603582	119694117	35576443	164	1280											
ODZ1	10178	broad.mit.edu	37	chrX	123518249	123518249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagatcgtaactataacGccactgggttttgtcattta	7	8	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:123518249G>A	ENST00000371130.3	-	29	6574	c.6511C>T	c.(6511-6513)Cgt>Tgt	p.R2171C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2178C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2171					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAACTATAACGCCACTGGGTT	0.448																																						ENST00000422452.2																			0											c.(6532-6534)Cgt>Tgt		teneurin transmembrane protein 1							139	128	131					X																	123518249		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518249G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6511C>T	X.37:g.123518249G>A	ENSP00000360171:p.Arg2171Cys					TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C|STAG2_ENST00000469481.1_Intron	p.R2178C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6595	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6532C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899242	0.52227	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.95036	0.8174	10	0.87932	D	0	.	18.4768	0.90795	0.0:0.0:1.0:0.0	.	2177;2178;2171	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2171;2178	ENSP00000360171:R2171C;ENSP00000403954:R2178C	ENSP00000360171:R2171C	R	-	1	0	ODZ1	123345930	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.271000	0.65553	2.304000	0.77564	0.544000	0.68410	CGT		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	292	0	0	0	1	0	15	292					A	123518249	G	A	123518249	3	1	11	1	0	0	0	0	1	0	0	0	10876	1087	38	1	1678	1	ODZ1	23	123518249	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	3824132	123518249	31752311	165	1281											
MAP7D3	79649	broad.mit.edu	37	chrX	135314079	135314079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catatgtgctcaccacaggcGacacgtccacgctcaccaca	7	17	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:135314079G>A	ENST00000316077.9	-	8	1257	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	346					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACCACAGGCGACACGTCCAC	0.572																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1036-1038)tCg>tTg		MAP7 domain containing 3							98	101	100					X																	135314079		2186	4251	6437	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314079G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1037C>T	X.37:g.135314079G>A	ENSP00000318086:p.Ser346Leu					MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L	p.S346L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1257	-	Acute lymphoblastic leukemia(192;0.000127)		346					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1037C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341803	0.24339	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.0	-2.91	0.05631	.	.	.	.	.	T	0.04452	0.0122	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.30033	0.266;0.02;0.069;0.208	B;B;B;B	0.17979	0.011;0.011;0.004;0.02	T	0.32981	-0.9886	9	0.42905	T	0.14	2.4003	4.2005	0.10464	0.4556:0.0:0.2903:0.254	.	328;305;346;311	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	311;346;328;305	ENSP00000359695:S311L;ENSP00000318086:S346L;ENSP00000359697:S328L;ENSP00000359694:S305L	ENSP00000318086:S346L	S	-	2	0	MAP7D3	135141745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.456000	0.21859	-1.115000	0.02973	-0.268000	0.10319	TCG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			134	146	0	0	0	1	0	134	146					A	135314079	G	A	135314079	3	1	11	1	0	0	0	0	1	0	0	0	9310	1059	37	1	1637	1	MAP7D3	23	135314079	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	11795830	135314079	19956481	166	1282											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1099	0	0	0	1	0	9	1099					A	140994960	G	A	140994960	2	1	11	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	5680881	140994960	14275600	167	1283											
TTLL10	254173	broad.mit.edu	37	chr1	1115519	1115519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acactgtgggccggacctggAgggggcagaaagagcctctg	17	10	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:1115519A>T	ENST00000379290.1	+	6	478	c.305A>T	c.(304-306)gAg>gTg	p.E102V	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.E102V|TTLL10_ENST00000379288.3_Missense_Mutation_p.E29V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	102					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGACCTGGAGGGGGCAGAA	0.682																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(304-306)gAg>gTg		tubulin tyrosine ligase-like family, member 10							23	29	27					1																	1115519		2203	4297	6500	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1115519A>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.305A>T	1.37:g.1115519A>T	ENSP00000368592:p.Glu102Val					TTLL10_ENST00000379289.1_Missense_Mutation_p.E102V|TTLL10_ENST00000379288.3_Missense_Mutation_p.E29V	p.E102V			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	478	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	102					B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.305A>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	A	9.678	1.148489	0.21288	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.17691	3.2;3.2;2.26	3.4	-5.56	0.02529	.	.	.	.	.	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	P;B	0.36535	0.557;0.421	B;B	0.30572	0.117;0.055	T	0.28522	-1.0041	9	0.24483	T	0.36	.	5.299	0.15768	0.2902:0.3154:0.3944:0.0	.	29;102	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	V	102;102;29	ENSP00000368592:E102V;ENSP00000368591:E102V;ENSP00000368590:E29V	ENSP00000368590:E29V	E	+	2	0	TTLL10	1105382	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.121000	0.10643	-1.117000	0.02965	-0.666000	0.03841	GAG		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		59	32	0	0	0	1	0	59	32					T	1115519	A	T	1115519	3	4	12	1	0	0	0	0	1	0	0	0	16777	304	11	5	315	5	TTLL10	1	1115519	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08		1115519	248135102	1	1284											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	105						9	105	---	---	---	---	-	4772585	CCA	-	4772583	7	5	12	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-2J-AABP-01A-11D-A40W-08	3657064	4772583	244478038	2	1285											
ERRFI1	54206	broad.mit.edu	37	chr1	8073413	8073413	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgggcgcctccatttgtttCttctgcttccctaaaaaatt	6	11	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:8073413C>A	ENST00000377482.5	-	4	1469	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	416					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCATTTGTTTCTTCTGCTTCC	0.413																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(1246-1248)Gaa>Taa		ERBB receptor feedback inhibitor 1							143	138	139					1																	8073413		2203	4300	6503	SO:0001587	stop_gained	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073413C>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1246G>T	1.37:g.8073413C>A	ENSP00000366702:p.Glu416*					ERRFI1_ENST00000474874.1_Intron	p.E416*	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1469	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	416					B2RDX9|Q9NTG9|Q9UD05	Nonsense_Mutation	SNP	ENST00000377482.5	37	c.1246G>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528517	0.96446	.	.	ENSG00000116285	ENST00000377482	.	.	.	5.9	5.9	0.94986	.	0.071311	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.2592	17.4349	0.87548	0.0:1.0:0.0:0.0	.	.	.	.	X	416	.	ENSP00000366702:E416X	E	-	1	0	ERRFI1	7996000	1.000000	0.71417	0.709000	0.30452	0.502000	0.33828	5.025000	0.64097	2.788000	0.95919	0.650000	0.86243	GAA		0.413	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		9	721	1	0	5.4927e-09	1	5.89957e-09	9	721					A	8073413	C	A	8073413	4	1	12	1	0	0	0	0	0	1	0	0	5262	922	32	3	146	3	ERRFI1	1	8073413	Nonsense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	3300830	8073413	241177208	3	1286											
IGSF21	84966	broad.mit.edu	37	chr1	18703434	18703434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccatgtatcgctgcacCgcccagaacccactgggctc	10	17	0	1	rs372579085		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:18703434C>T	ENST00000251296.1	+	8	1625	c.1242C>T	c.(1240-1242)acC>acT	p.T414T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	414	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATCGCTGCACCGCCCAGAACC	0.657																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1240-1242)acC>acT		immunoglobin superfamily, member 21		C		0,4406		0,0,2203	48	44	46		1242	-10.3	0	1		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGSF21	NM_032880.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		414/468	18703434	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18703434C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1242C>T	1.37:g.18703434C>T							p.T414T	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1625	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	414			Ig-like 2.		Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.1242C>T	CCDS184.1																																																																																				0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		13	206	0	0	0	1	0	13	206					T	18703434	C	T	18703434	2	4	12	1	0	0	0	0	0	0	0	1	7629	639	23	1		1	IGSF21	1	18703434	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	10630021	18703434	230547187	4	1287											
KHDRBS1	10657	broad.mit.edu	37	chr1	32504185	32504185	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatacgcagaacaaagttaCgaaggctacgaaggctatta	9	8	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:32504185C>A	ENST00000327300.7	+	7	1307	c.1140C>A	c.(1138-1140)taC>taA	p.Y380*	KHDRBS1_ENST00000492989.1_Nonsense_Mutation_p.Y341*|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAAAGTTACGAAGGCTACG	0.398																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1138-1140)taC>taA		KH domain containing, RNA binding, signal transduction associated 1							128	112	117					1																	32504185		2203	4300	6503	SO:0001587	stop_gained	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32504185C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1140C>A	1.37:g.32504185C>A	ENSP00000313829:p.Tyr380*					KHDRBS1_ENST00000492989.1_Nonsense_Mutation_p.Y341*|KHDRBS1_ENST00000307714.8_3'UTR	p.Y380*	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			7	1307	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	380						Nonsense_Mutation	SNP	ENST00000327300.7	37	c.1140C>A	CCDS350.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837817	0.50951	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	.	.	.	5.33	-5.84	0.02318	.	0.586362	0.19556	N	0.111441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6032	0.84821	0.0:0.5165:0.0:0.4835	.	.	.	.	X	380;341;356	.	ENSP00000313829:Y380X	Y	+	3	2	KHDRBS1	32276772	0.962000	0.33011	0.838000	0.33150	0.828000	0.46876	0.016000	0.13377	-1.398000	0.02066	-1.623000	0.00790	TAC		0.398	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		5	259	1	0	1.06961e-07	1	1.14499e-07	5	259					A	32504185	C	A	32504185	4	1	12	1	0	0	0	0	0	1	0	0	8176	547	19	3	1166	3	KHDRBS1	1	32504185	Nonsense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	13800751	32504185	216746436	5	1288											
CSMD2	114784	broad.mit.edu	37	chr1	34052182	34052182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttcattccccactaaggTaaagccagggaggcatctgt	9	10	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:34052182T>G	ENST00000373381.4	-	46	7149	c.6973A>C	c.(6973-6975)Acc>Ccc	p.T2325P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2327	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				CCCACTAAGGTAAAGCCAGGG	0.478																																						ENST00000373381.4																			0				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						c.(6973-6975)Acc>Ccc		CUB and Sushi multiple domains 2							105	96	99					1																	34052182		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34052182T>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6973A>C	1.37:g.34052182T>G	ENSP00000362479:p.Thr2325Pro						p.T2325P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			46	7149	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2327			Sushi 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.6973A>C		.	.	.	.	.	.	.	.	.	.	T	22.8	4.336917	0.81801	.	.	ENSG00000121904	ENST00000373381	T	0.65549	-0.16	5.84	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.369443	0.29501	N	0.011968	T	0.79667	0.4485	M	0.92169	3.28	0.80722	D	1	D;P	0.53745	0.962;0.934	P;P	0.60068	0.868;0.868	T	0.80897	-0.1177	10	0.30854	T	0.27	.	11.9031	0.52694	0.1568:0.0:0.0:0.8432	.	2327;2325	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	2325	ENSP00000362479:T2325P	ENSP00000241312:T2327P	T	-	1	0	CSMD2	33824769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.554000	0.36266	2.231000	0.72958	0.533000	0.62120	ACC		0.478	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	378	0	0	0	1	0	5	378					G	34052182	T	G	34052182	3	3	12	1	0	0	0	0	1	0	0	0	3956	1638	57	4	3576	4	CSMD2	1	34052182	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	1547997	34052182	215198439	6	1289											
DMBX1	127343	broad.mit.edu	37	chr1	46977796	46977796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctattcctcgtcccCgctgagcctcttccgtctgc	6	20	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:46977796C>A	ENST00000360032.3	+	4	778	c.764C>A	c.(763-765)cCg>cAg	p.P255Q	DMBX1_ENST00000371956.4_Missense_Mutation_p.P260Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTCGTCCCCGCTGAGCCTC	0.642																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(778-780)cCg>cAg		diencephalon/mesencephalon homeobox 1							79	82	81					1																	46977796		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977796C>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.764C>A	1.37:g.46977796C>A	ENSP00000353132:p.Pro255Gln					DMBX1_ENST00000360032.3_Missense_Mutation_p.P255Q	p.P260Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	794	+	Acute lymphoblastic leukemia(166;0.155)		260						Missense_Mutation	SNP	ENST00000360032.3	37	c.779C>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335890	0.81801	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.99032	-4.1;-5.35	5.02	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99501	1.0953	10	0.66056	D	0.02	.	12.8074	0.57622	0.0:0.9202:0.0:0.0798	.	260;255	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	Q	260;255	ENSP00000361024:P260Q;ENSP00000353132:P255Q	ENSP00000353132:P255Q	P	+	2	0	DMBX1	46750383	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.706000	0.84615	1.253000	0.44018	0.655000	0.94253	CCG		0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			8	653	1	0	5.18039e-06	1	5.49018e-06	8	653					A	46977796	C	A	46977796	3	1	12	1	0	0	0	0	1	0	0	0	4594	652	23	3	793	3	DMBX1	1	46977796	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	12925614	46977796	202272825	7	1290											
ZCCHC11	23318	broad.mit.edu	37	chr1	52975368	52975368	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcatagataccgacaattgGtatattctggtgatcgctga	10	7	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:52975368G>C	ENST00000371544.3	-	4	1161	c.899C>G	c.(898-900)aCc>aGc	p.T300S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T300S|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	300					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCGACAATTGGTATATTCTGG	0.299																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(898-900)aCc>aGc		zinc finger, CCHC domain containing 11							80	83	82					1																	52975368		2203	4297	6500	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52975368G>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.899C>G	1.37:g.52975368G>C	ENSP00000360599:p.Thr300Ser					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T300S|ZCCHC11_ENST00000371541.1_5'UTR	p.T300S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			4	1161	-			300					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.899C>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621309	0.28889	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.2	4.29	0.51040	.	0.114084	0.64402	D	0.000011	T	0.33847	0.0877	L	0.46157	1.445	0.80722	D	1	B;B;P;B	0.40230	0.085;0.178;0.708;0.307	B;B;P;B	0.44623	0.025;0.171;0.455;0.031	T	0.08597	-1.0714	10	0.06099	T	0.92	.	13.6766	0.62458	0.0748:0.0:0.9252:0.0	.	59;300;300;300	E9PKX1;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	S	300;300;300;59	ENSP00000257177:T300S;ENSP00000360599:T300S;ENSP00000433486:T300S;ENSP00000435256:T59S	ENSP00000257177:T300S	T	-	2	0	ZCCHC11	52747956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.244000	0.95423	1.188000	0.43014	0.655000	0.94253	ACC		0.299	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		10	495	0	0	0	1	0	10	495					C	52975368	G	C	52975368	3	2	12	1	0	0	0	0	1	0	0	0	17633	1261	44	5	4146	5	ZCCHC11	1	52975368	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	5997572	52975368	196275253	8	1291											
BSND	7809	broad.mit.edu	37	chr1	55464881	55464881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgacgagaagaccttcCggatcggcttcattgtgctg	13	10	1	3	rs74315285		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:55464881C>T	ENST00000371265.4	+	1	276	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	8			R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER). {ECO:0000269|PubMed:11687798}.|R -> W (in BS4A; completely abolishes CLCNKA activation; dbSNP:rs74315285). {ECO:0000269|PubMed:11687798}.		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GAAGACCTTCCGGATCGGCTT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18103	0.001		0.0	False		,,,				2504	0.0				Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM013302	BSND	M	rs74315285	c.(22-24)Cgg>Tgg		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							101	98	99					1																	55464881		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55464881C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.22C>T	1.37:g.55464881C>T	ENSP00000360312:p.Arg8Trp						p.R8W	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			1	276	+			8		R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER).|R -> W (in BS4A; completely abolishes CLCNKA activation).			Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.22C>T	CCDS602.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.899629	0.72754	.	.	ENSG00000162399	ENST00000371265	D	0.93953	-3.32	4.44	4.44	0.53790	.	0.000000	0.52532	D	0.000068	D	0.96247	0.8776	M	0.72118	2.19	0.45194	A	0.998209	D	0.89917	1.0	D	0.97110	1.0	D	0.96945	0.9690	9	0.87932	D	0	-16.4644	17.0268	0.86450	0.0:1.0:0.0:0.0	.	8	Q8WZ55	BSND_HUMAN	W	8	ENSP00000360312:R8W	ENSP00000360312:R8W	R	+	1	2	BSND	55237469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.106000	0.50322	2.194000	0.70268	0.478000	0.44815	CGG		0.622	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		14	420	0	0	0	1	0	14	420					T	55464881	C	T	55464881	3	4	12	1	0	0	0	0	1	0	0	0	1535	643	23	1	24	1	BSND	1	55464881	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2489513	55464881	193785740	9	1292											
RABGGTB	5876	broad.mit.edu	37	chr1	76253257	76253257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaacatgcagattatAtcgcatcctatggctcaaag	9	8	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:76253257A>G	ENST00000319942.3	+	2	150	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I27V|RABGGTB_ENST00000496055.1_3'UTR|SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	27					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGCAGATTATATCGCATCCTA	0.343																																						ENST00000319942.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						c.(79-81)Atc>Gtc		Rab geranylgeranyltransferase, beta subunit							162	150	154					1																	76253257		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76253257A>G	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.79A>G	1.37:g.76253257A>G	ENSP00000317473:p.Ile27Val					RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I27V|RABGGTB_ENST00000496055.1_3'UTR	p.I27V	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN			2	150	+			27					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.79A>G	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385237	0.61956	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.42513	0.97;0.97	5.05	5.05	0.67936	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.084250	0.85682	D	0.000000	T	0.29556	0.0737	M	0.62088	1.915	0.80722	D	1	B	0.15141	0.012	B	0.23574	0.047	T	0.15867	-1.0422	10	0.40728	T	0.16	-1.6017	15.0861	0.72155	1.0:0.0:0.0:0.0	.	27	P53611	PGTB2_HUMAN	V	27	ENSP00000317473:I27V;ENSP00000359862:I27V	ENSP00000317473:I27V	I	+	1	0	RABGGTB	76025845	1.000000	0.71417	0.988000	0.46212	0.280000	0.26924	8.598000	0.90852	2.030000	0.59900	0.533000	0.62120	ATC		0.343	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		251	219	0	0	0	1	0	251	219					G	76253257	A	G	76253257	3	3	12	1	0	0	0	0	1	0	0	0	13018	449	16	4	85	4	RABGGTB	1	76253257	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	20788376	76253257	172997364	10	1293											
PRPF38B	55119	broad.mit.edu	37	chr1	109242415	109242415	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaaatcaaataaacgaagtCgaagtggcagtcaaggaaga	10	5	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:109242415C>A	ENST00000370025.4	+	6	1683	c.1414C>A	c.(1414-1416)Cga>Aga	p.R472R	PRPF38B_ENST00000370021.1_Silent_p.R361R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	472					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAAACGAAGTCGAAGTGGCAG	0.353																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(1081-1083)Cga>Aga		pre-mRNA processing factor 38B							96	96	96					1																	109242415		2203	4300	6503	SO:0001819	synonymous_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242415C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1414C>A	1.37:g.109242415C>A						PRPF38B_ENST00000370025.4_Silent_p.R472R	p.R361R			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1718	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	472			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	c.1081C>A	CCDS788.1																																																																																				0.353	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		42	432	1	0	3.54561e-26	1	4.02508e-26	42	432					A	109242415	C	A	109242415	2	1	12	1	0	0	0	0	0	0	0	1	12615	876	31	3		3	PRPF38B	1	109242415	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	32989158	109242415	140008206	11	1294											
DENND2C	163259	broad.mit.edu	37	chr1	115143483	115143483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactcttaactgtgatggtGcgtccaggagctgggaaagg	14	7	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:115143483G>A	ENST00000393274.1	-	14	2539	c.1914C>T	c.(1912-1914)cgC>cgT	p.R638R	DENND2C_ENST00000393276.3_Silent_p.R581R|DENND2C_ENST00000393277.1_Silent_p.R638R|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	638	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGATGGTGCGTCCAGGAG	0.448																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1912-1914)cgC>cgT		DENN/MADD domain containing 2C							126	121	123					1																	115143483		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115143483G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1914C>T	1.37:g.115143483G>A						DENND2C_ENST00000393277.1_Silent_p.R638R|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.R581R	p.R638R	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2539	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	638			DENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1914C>T	CCDS58018.1																																																																																				0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		14	423	0	0	0	1	0	14	423					A	115143483	G	A	115143483	2	1	12	1	0	0	0	0	0	0	0	1	4446	1306	46	2		2	DENND2C	1	115143483	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	5901068	115143483	134107138	12	1295											
FLG2	388698	broad.mit.edu	37	chr1	152330000	152330000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtattctttgctgaggaCcttgttgcaggccatagtca	11	9	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:152330000C>T	ENST00000388718.5	-	3	334	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	88					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)			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)			TTGCTGAGGACCTTGTTGCAG	0.438																																						ENST00000388718.5																			0				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						c.(262-264)Gtc>Atc		filaggrin family member 2							101	89	93					1																	152330000		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152330000C>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.262G>A	1.37:g.152330000C>T	ENSP00000373370:p.Val88Ile					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.V88I	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	334	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		88					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.262G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817773	0.50633	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	5.62	3.57	0.40892	EF-hand-like domain (1);	.	.	.	.	T	0.01287	0.0042	N	0.00500	-1.43	0.23501	N	0.997542	P	0.43094	0.799	B	0.39258	0.295	T	0.18461	-1.0336	9	0.44086	T	0.13	-9.9816	7.9266	0.29878	0.1694:0.7401:0.0:0.0905	.	88	Q5D862	FILA2_HUMAN	I	88	ENSP00000373370:V88I	ENSP00000373370:V88I	V	-	1	0	FLG2	150596624	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.215000	0.09279	1.390000	0.46547	0.557000	0.71058	GTC		0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		93	77	0	0	0	1	0	93	77					T	152330000	C	T	152330000	3	4	12	1	0	0	0	0	1	0	0	0	5948	507	18	2	6917	2	FLG2	1	152330000	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	37186517	152330000	96920621	13	1296											
SPRR2E	6704	broad.mit.edu	37	chr1	153066012	153066012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaattctgaagctgttaCttgctcttgggtggacactt	11	7	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:153066012C>A	ENST00000368751.1	-	2	290	c.216G>T	c.(214-216)aaG>aaT	p.K72N	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K72N			P22531	SPR2E_HUMAN	small proline-rich protein 2E	72					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGCTGTTACTTGCTCTTGG	0.512																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(214-216)aaG>aaT		small proline-rich protein 2E							245	234	238					1																	153066012		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066012C>A	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.216G>T	1.37:g.153066012C>A	ENSP00000357740:p.Lys72Asn					SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K72N	p.K72N			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	290	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		72					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.216G>T	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	C	1.601	-0.526412	0.04141	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.43294	0.95;0.95	4.13	3.19	0.36642	.	0.000000	0.36932	N	0.002330	T	0.16257	0.0391	.	.	.	0.20764	N	0.999854	P	0.47762	0.9	B	0.37888	0.26	T	0.03068	-1.1076	9	0.87932	D	0	.	9.8253	0.40908	0.0:0.7897:0.2103:0.0	.	72	P22531	SPR2E_HUMAN	N	72	ENSP00000357740:K72N;ENSP00000357739:K72N	ENSP00000357739:K72N	K	-	3	2	SPRR2E	151332636	0.725000	0.28048	0.559000	0.28332	0.002000	0.02628	0.293000	0.19029	0.712000	0.32039	-0.718000	0.03613	AAG		0.512	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			81	767	1	0	3.33908e-46	1	3.84536e-46	81	767					A	153066012	C	A	153066012	3	1	12	1	0	0	0	0	1	0	0	0	15152	564	20	3	6	3	SPRR2E	1	153066012	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	736012	153066012	96184609	14	1297											
ADAR	103	broad.mit.edu	37	chr1	154570940	154570940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattttccactgtccttggCtttggcttcctctagcagaa	8	11	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:154570940C>A	ENST00000368474.4	-	3	1922	c.1723G>T	c.(1723-1725)Gcc>Tcc	p.A575S	ADAR_ENST00000368471.3_Missense_Mutation_p.A280S|ADAR_ENST00000292205.5_Missense_Mutation_p.A618S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	575					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCCTTGGCTTTGGCTTCC	0.498																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(1723-1725)Gcc>Tcc		adenosine deaminase, RNA-specific							262	208	226					1																	154570940		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154570940C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1723G>T	1.37:g.154570940C>A	ENSP00000357459:p.Ala575Ser					ADAR_ENST00000292205.5_Missense_Mutation_p.A618S|ADAR_ENST00000368471.3_Missense_Mutation_p.A280S	p.A575S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	3	1922	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		575					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.1723G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740553	0.69304	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.13538	2.77;2.79;2.58;2.77	4.97	4.97	0.65823	.	0.224215	0.44483	D	0.000453	T	0.12390	0.0301	L	0.32530	0.975	0.24690	N	0.993314	P;P;D	0.69078	0.532;0.532;0.997	B;B;D	0.75020	0.284;0.284;0.985	T	0.07366	-1.0776	10	0.41790	T	0.15	-13.9444	8.6255	0.33886	0.0:0.7629:0.1542:0.0829	.	575;575;575	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	618;575;280;570	ENSP00000292205:A618S;ENSP00000357459:A575S;ENSP00000357456:A280S;ENSP00000431794:A570S	ENSP00000292205:A618S	A	-	1	0	ADAR	152837564	0.992000	0.36948	0.996000	0.52242	0.972000	0.66771	1.761000	0.38440	2.578000	0.87016	0.655000	0.94253	GCC		0.498	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		57	381	1	0	2.18419e-29	1	2.49734e-29	57	381					A	154570940	C	A	154570940	3	1	12	1	0	0	0	0	1	0	0	0	281	797	28	3	2009	3	ADAR	1	154570940	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1504928	154570940	94679681	15	1298											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	37	0	0	0	1	0	6	37					G	156777073	T	G	156777073	3	3	12	1	0	0	0	0	1	0	0	0	14282	1696	59	4	106	4	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	2206133	156777073	92473548	16	1299											
CD5L	922	broad.mit.edu	37	chr1	157804321	157804321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctcagccagatgggtttTcggccataggcatgcttgtt	13	9	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:157804321T>C	ENST00000368174.4	-	4	690	c.594A>G	c.(592-594)cgA>cgG	p.R198R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	198	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGGTTTTCGGCCATAGG	0.587																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(592-594)cgA>cgG		CD5 molecule-like							77	68	71					1																	157804321		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804321T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.594A>G	1.37:g.157804321T>C							p.R198R	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	690	-	all_hematologic(112;0.0378)		198			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.594A>G	CCDS1171.1																																																																																				0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		27	262	0	0	0	1	0	27	262					C	157804321	T	C	157804321	2	2	12	1	0	0	0	0	0	0	0	1	3036	1770	62	4		4	CD5L	1	157804321	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	1027248	157804321	91446300	17	1300											
OR10R2	343406	broad.mit.edu	37	chr1	158449944	158449944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacatctgagaccttcTacacctttgtcattctaccc	3	15	5	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:158449944T>C	ENST00000368152.1	+	1	277	c.277T>C	c.(277-279)Tac>Cac	p.Y93H	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGAGACCTTCTACACCTTTGT	0.438																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(277-279)Tac>Cac		olfactory receptor, family 10, subfamily R, member 2							307	262	278					1																	158449944		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449944T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.277T>C	1.37:g.158449944T>C	ENSP00000357134:p.Tyr93His					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.Y93H	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	277	+	all_hematologic(112;0.0378)		93					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.277T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.21	3.059013	0.55325	.	.	ENSG00000198965	ENST00000368152	T	0.00397	7.57	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.86420	2.815	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36625	-0.9740	9	0.87932	D	0	.	12.5259	0.56085	0.0:0.0:0.0:1.0	.	93	Q8NGX6	O10R2_HUMAN	H	93	ENSP00000357134:Y93H	ENSP00000357134:Y93H	Y	+	1	0	OR10R2	156716568	0.013000	0.17824	0.984000	0.44739	0.994000	0.84299	1.537000	0.36083	1.762000	0.52044	0.533000	0.62120	TAC		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		69	608	0	0	0	1	0	69	608					C	158449944	T	C	158449944	3	2	12	1	0	0	0	0	1	0	0	0	10959	1522	53	4	279	4	OR10R2	1	158449944	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	645623	158449944	90800677	18	1301											
SLAMF1	6504	broad.mit.edu	37	chr1	160604452	160604452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgaaggtctgggaattGttgctgatagggttgctcac	16	6	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:160604452G>T	ENST00000302035.6	-	3	1000	c.651C>A	c.(649-651)aaC>aaA	p.N217K	SLAMF1_ENST00000235739.5_Missense_Mutation_p.N217K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N217K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N217K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	217	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTGGGAATTGTTGCTGATAG	0.592																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(649-651)aaC>aaA		signaling lymphocytic activation molecule family member 1							157	143	148					1																	160604452		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604452G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.651C>A	1.37:g.160604452G>T	ENSP00000306190:p.Asn217Lys					SLAMF1_ENST00000235739.5_Missense_Mutation_p.N217K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N217K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N217K	p.N217K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	1000	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		217			Ig-like C2-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.651C>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391062	0.25118	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.24	-0.0738	0.13733	Immunoglobulin-like (1);	0.678357	0.14997	N	0.286354	T	0.15869	0.0382	M	0.87097	2.86	0.09310	N	1	P	0.40144	0.704	B	0.30943	0.122	T	0.18840	-1.0324	10	0.25751	T	0.34	-31.562	0.8118	0.01095	0.2161:0.1732:0.4044:0.2062	.	217	Q13291	SLAF1_HUMAN	K	217	ENSP00000306190:N217K;ENSP00000235739:N217K;ENSP00000438406:N217K;ENSP00000347333:N217K	ENSP00000235739:N217K	N	-	3	2	SLAMF1	158871076	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.393000	0.20817	-0.002000	0.14469	-0.284000	0.09977	AAC		0.592	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			8	284	1	0	0.00448238	1	0.00459768	8	284					T	160604452	G	T	160604452	3	4	12	1	0	0	0	0	1	0	0	0	14417	1368	48	3	376	3	SLAMF1	1	160604452	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	2154508	160604452	88646169	19	1302											
ADCY10	55811	broad.mit.edu	37	chr1	167874317	167874317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccatagacaatgaggtctGgtaaatgagctgctattctg	11	7	2	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:167874317G>T	ENST00000367851.4	-	2	246	c.62C>A	c.(61-63)cCa>cAa	p.P21Q	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.P21Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	21					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATGAGGTCTGGTAAATGAGC	0.423																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(61-63)cCa>cAa		adenylate cyclase 10 (soluble)							182	173	176					1																	167874317		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874317G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.62C>A	1.37:g.167874317G>T	ENSP00000356825:p.Pro21Gln					ADCY10_ENST00000476818.2_Missense_Mutation_p.P21Q|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	p.P21Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	246	-			21					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.62C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329244	0.60743	.	.	ENSG00000143199	ENST00000367851	T	0.60424	0.19	5.58	5.58	0.84498	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.56097	D	0.000029	T	0.69024	0.3065	M	0.66939	2.045	0.31767	N	0.6326149999999999	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	-15.5147	15.0744	0.72066	0.0:0.0:1.0:0.0	.	21	Q96PN6	ADCYA_HUMAN	Q	21	ENSP00000356825:P21Q	ENSP00000356825:P21Q	P	-	2	0	ADCY10	166140941	1.000000	0.71417	0.945000	0.38365	0.317000	0.28152	5.244000	0.65400	2.611000	0.88343	0.655000	0.94253	CCA		0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		5	372	1	0	0.0293803	1	0.0299435	5	372					T	167874317	G	T	167874317	3	4	12	1	0	0	0	0	1	0	0	0	293	1348	47	3	4898	3	ADCY10	1	167874317	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	7269865	167874317	81376304	20	1303											
PRG4	10216	broad.mit.edu	37	chr1	186276168	186276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCcccaagaagcctgccccaac	7	20	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				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						c.(1315-1317)acC>acT		proteoglycan 4							77	84	82					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>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.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	313	0	0	0	1	0	5	313					T	186276168	C	T	186276168	2	4	12	1	0	0	0	0	0	0	0	1	12528	610	22	2		2	PRG4	1	186276168	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	18401851	186276168	62974453	21	1304											
SLC26A9	115019	broad.mit.edu	37	chr1	205904836	205904836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttacctgaaggcattgCgaagtttctctcccactggg	10	12	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:205904836C>T	ENST00000367135.3	-	2	226	c.113G>A	c.(112-114)cGc>cAc	p.R38H	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38H|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAAGGCATTGCGAAGTTTCTC	0.552																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(112-114)cGc>cAc		solute carrier family 26 (anion exchanger), member 9							225	196	206					1																	205904836		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904836C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.113G>A	1.37:g.205904836C>T	ENSP00000356103:p.Arg38His					SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38H|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38H	p.R38H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	226	-	Breast(84;0.201)		38					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.113G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695849	0.68386	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93488	-3.23;-3.19;-3.23	5.45	4.53	0.55603	.	0.369254	0.23912	N	0.043340	D	0.90164	0.6926	L	0.50333	1.59	0.26968	N	0.965652	D;D	0.58268	0.964;0.982	B;P	0.45276	0.425;0.475	D	0.83690	0.0176	10	0.37606	T	0.19	.	7.4467	0.27215	0.1589:0.7295:0.0:0.1117	.	38;38	Q7LBE3;B1AVM8	S26A9_HUMAN;.	H	38	ENSP00000341682:R38H;ENSP00000356103:R38H;ENSP00000356102:R38H	ENSP00000341682:R38H	R	-	2	0	SLC26A9	204171459	0.753000	0.28349	0.936000	0.37596	0.995000	0.86356	0.571000	0.23669	1.293000	0.44690	0.655000	0.94253	CGC		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		35	316	0	0	0	1	0	35	316					T	205904836	C	T	205904836	3	4	12	1	0	0	0	0	1	0	0	0	14574	768	27	1	2638	1	SLC26A9	1	205904836	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	19628668	205904836	43345785	22	1305											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-													ggagaattagatactatgtcAaaaaaaaccacggcactgga							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5911-5913)tcfs		centromere protein F, 350/400kDa				15,4251		3,9,2121	53	58	56			1.9	0.1	1		57	17,8235		5,7,4114	no	frameshift	CENPF	NM_016343.3		8,16,6235	A1A1,A1R,RR		0.206,0.3516,0.2556			214818826	32,12486	2203	4300	6503	SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818826delA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5913delA	1.37:g.214818826delA	ENSP00000355922:p.Ser1971fs						p.S1971fs	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6081	+			2067					Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.5913delA	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		7	293						7	293	---	---	---	---	-	214818826	A	-	214818826	7	5	12	1	0	1	0	1	0	0	0	0	3240	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Del	DEL	A	TCGA-2J-AABP-01A-11D-A40W-08	8913990	214818826	34431795	23	1306											
C1orf55	163859	broad.mit.edu	37	chr1	226175604	226175604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaacatacttactgcgtttCctggctggctttcctgcagt	8	11	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:226175604C>T	ENST00000272091.7	-	6	1145	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	376																	TACTGCGTTTCCTGGCTGGCT	0.443																																						ENST00000272091.7																			0											c.(1126-1128)gGa>gAa		SDE2 telomere maintenance homolog (S. pombe)							135	131	132					1																	226175604		1946	4151	6097	SO:0001583	missense	163859							g.chr1:226175604C>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1127G>A	1.37:g.226175604C>T	ENSP00000272091:p.Gly376Glu					SDE2_ENST00000366817.1_Missense_Mutation_p.G281E	p.G376E	NM_152608.3	NP_689821.3					6	1145	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.1127G>A	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663036	0.14710	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.46819	0.91;0.86	6.05	4.16	0.48862	.	0.465506	0.23310	N	0.049578	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	B;P	0.37122	0.023;0.583	B;B	0.29942	0.016;0.109	T	0.10019	-1.0648	10	0.12766	T	0.61	-14.6206	6.3303	0.21266	0.0:0.5114:0.3529:0.1357	.	364;376	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	E	376;364;281	ENSP00000272091:G376E;ENSP00000355782:G281E	ENSP00000272091:G376E	G	-	2	0	C1orf55	224242227	0.000000	0.05858	0.296000	0.24974	0.016000	0.09150	-0.272000	0.08560	1.539000	0.49286	0.650000	0.86243	GGA		0.443	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		27	265	0	0	0	1	0	27	265					T	226175604	C	T	226175604	3	4	12	1	0	0	0	0	1	0	0	0	2054	855	30	2	236	2	C1orf55	1	226175604	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	11356778	226175604	23075017	24	1307											
APOB	338	broad.mit.edu	37	chr2	21234788	21234788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgttgcactggtagatattCcatcttggccaatccttagt	8	10	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:21234788C>T	ENST00000233242.1	-	26	5079	c.4952G>A	c.(4951-4953)gGa>gAa	p.G1651E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1651					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)			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)					GGTAGATATTCCATCTTGGCC	0.448																																						ENST00000233242.1																			0				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						c.(4951-4953)gGa>gAa		apolipoprotein B	Atorvastatin(DB01076)						100	94	96					2																	21234788		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.chr2:21234788C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4952G>A	2.37:g.21234788C>T	ENSP00000233242:p.Gly1651Glu						p.G1651E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5079	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1651					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4952G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168988	0.38315	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01495	4.83	5.97	5.09	0.68999	.	0.208944	0.33092	N	0.005298	T	0.08846	0.0219	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.02282	-1.1183	10	0.72032	D	0.01	.	17.3372	0.87285	0.0:0.8749:0.1251:0.0	.	1651	P04114	APOB_HUMAN	E	1651	ENSP00000233242:G1651E	ENSP00000233242:G1651E	G	-	2	0	APOB	21088293	1.000000	0.71417	0.148000	0.22405	0.017000	0.09413	7.770000	0.85390	1.524000	0.49035	-0.172000	0.13284	GGA		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	217	0	0	0	1	0	9	217					T	21234788	C	T	21234788	3	4	12	1	0	0	0	0	1	0	0	0	785	855	30	2	8755	2	APOB	2	21234788	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		21234788	221964585	25	1308											
APOB	338	broad.mit.edu	37	chr2	21256298	21256298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagatggttagtttttTcagttcctggagagtcttca	10	7	4	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:21256298T>C	ENST00000233242.1	-	9	1124	c.997A>G	c.(997-999)Aaa>Gaa	p.K333E	APOB_ENST00000399256.4_Missense_Mutation_p.K333E	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	333	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)			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)					GTTAGTTTTTTCAGTTCCTGG	0.458																																						ENST00000233242.1																			0				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						c.(997-999)Aaa>Gaa		apolipoprotein B	Atorvastatin(DB01076)						173	167	169					2																	21256298		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.chr2:21256298T>C	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.997A>G	2.37:g.21256298T>C	ENSP00000233242:p.Lys333Glu					APOB_ENST00000399256.4_Missense_Mutation_p.K333E	p.K333E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			9	1124	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.997A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913522	0.33815	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.68765	-0.35;-0.35	5.13	3.08	0.35506	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.203138	0.34411	N	0.003994	T	0.49236	0.1545	L	0.29908	0.895	0.28622	N	0.908098	B	0.12630	0.006	B	0.12156	0.007	T	0.33471	-0.9867	10	0.18276	T	0.48	.	9.151	0.36962	0.0:0.1069:0.6369:0.2562	.	333	P04114	APOB_HUMAN	E	333	ENSP00000233242:K333E;ENSP00000382200:K333E	ENSP00000233242:K333E	K	-	1	0	APOB	21109803	0.993000	0.37304	0.359000	0.25824	0.020000	0.10135	2.190000	0.42630	0.629000	0.30376	0.533000	0.62120	AAA		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	491	0	0	0	1	0	9	491					C	21256298	T	C	21256298	3	2	12	1	0	0	0	0	1	0	0	0	785	1792	62	4	12778	4	APOB	2	21256298	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	21510	21256298	221943075	26	1309											
NRXN1	9378	broad.mit.edu	37	chr2	50724643	50724643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgacaggatctgctaTgatgttcctgaagccaaatc	11	8	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:50724643T>C	ENST00000406316.2	-	14	4183	c.2707A>G	c.(2707-2709)Ata>Gta	p.I903V	NRXN1_ENST00000405472.3_Missense_Mutation_p.I895V|NRXN1_ENST00000404971.1_Missense_Mutation_p.I943V|NRXN1_ENST00000401669.2_Missense_Mutation_p.I903V|NRXN1_ENST00000402717.3_Missense_Mutation_p.I895V|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.I903V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	903					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)			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)			GGATCTGCTATGATGTTCCTG	0.418																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2827-2829)Ata>Gta		neurexin 1							128	119	122					2																	50724643		1979	4173	6152	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724643T>C	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.2707A>G	2.37:g.50724643T>C	ENSP00000384311:p.Ile903Val					NRXN1_ENST00000401669.2_Missense_Mutation_p.I903V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I903V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I903V	p.I943V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4166	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	903			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2827A>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	3.554	-0.091094	0.07053	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.58	5.58	0.84498	.	0.096019	0.64402	D	0.000001	T	0.60599	0.2281	N	0.10874	0.06	0.26085	N	0.981035	B;B;B	0.15719	0.014;0.0;0.004	B;B;B	0.21546	0.035;0.001;0.005	T	0.35968	-0.9767	10	0.09843	T	0.71	.	15.9198	0.79552	0.0:0.0:0.0:1.0	.	943;903;895	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	943;903;895;903;944;895;903	ENSP00000385142:I943V;ENSP00000384311:I903V;ENSP00000434015:I895V;ENSP00000385017:I903V;ENSP00000385434:I895V;ENSP00000385681:I903V	ENSP00000385017:I903V	I	-	1	0	NRXN1	50578147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	2.343000	0.79666	0.533000	0.62120	ATA		0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	135	0	0	0	1	0	13	135					C	50724643	T	C	50724643	3	2	12	1	0	0	0	0	1	0	0	0	10707	1464	51	4	2119	4	NRXN1	2	50724643	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	29468345	50724643	192474730	27	1310											
EXOC6B	23233	broad.mit.edu	37	chr2	72411216	72411216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcacttctcaagcaggGtcagagcagtcactgggttt	11	10	4	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:72411216G>A	ENST00000272427.6	-	21	2427	c.2297C>T	c.(2296-2298)aCc>aTc	p.T766I	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	766					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTCAAGCAGGGTCAGAGCAGT	0.507																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(2296-2298)aCc>aTc		exocyst complex component 6B							44	43	43					2																	72411216		1945	4133	6078	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72411216G>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2297C>T	2.37:g.72411216G>A	ENSP00000272427:p.Thr766Ile					EXOC6B_ENST00000490919.1_5'UTR	p.T766I	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			21	2427	-			766					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.2297C>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153955	0.21371	.	.	ENSG00000144036	ENST00000272427	T	0.27890	1.64	5.75	5.75	0.90469	.	.	.	.	.	T	0.14570	0.0352	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	9	0.10377	T	0.69	.	8.9666	0.35881	0.1552:0.0:0.8448:0.0	.	766	Q9Y2D4	EXC6B_HUMAN	I	766	ENSP00000272427:T766I	ENSP00000272427:T766I	T	-	2	0	EXOC6B	72264724	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.903000	0.48711	2.716000	0.92895	0.655000	0.94253	ACC		0.507	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		3	16	0	0	0	1	0	3	16					A	72411216	G	A	72411216	3	1	12	1	0	0	0	0	1	0	0	0	5327	1261	44	2	146	2	EXOC6B	2	72411216	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	21686573	72411216	170788157	28	1311											
RGPD2	400966	broad.mit.edu	37	chr2	87140987	87140987	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgatgaggcgcagcaaGgcctacggggagcggtacct	18	10	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:87140987G>A	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.K5K			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672																																						ENST00000398193.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(13-15)aaG>aaA		RANBP2-like and GRIP domain containing 1							19	28	25					2																	87140987		2182	4283	6465	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87140987G>A		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"Tetratricopeptide (TTC) repeat domain containing"	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000409776.2:c.48+5848G>A	2.37:g.87140987G>A						RGPD1_ENST00000409776.2_Intron	p.K5K			Q68DN6	RGPD1_HUMAN			1	53	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.15G>A																																																																																					0.672	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001024457		4	104	0	0	0	1	0	4	104					A	87140987	G	A	87140987	1	1	12	0	1	0	0	0	0	0	0	0	13336	991	35	2		2	RGPD2	2	87140987	Intron	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	14729771	87140987	156058386	29	1312											
IL1F9	56300	broad.mit.edu	37	chr2	113742500	113742500	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagactggtaggacctcCacccttgagtctgtggcctt	11	13	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:113742500C>A	ENST00000259205.4	+	5	453	c.384C>A	c.(382-384)tcC>tcA	p.S128S	IL36G_ENST00000376489.2_Silent_p.S93S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	128					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTAGGACCTCCACCCTTGAGT	0.517																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(382-384)tcC>tcA		interleukin 36, gamma							137	121	126					2																	113742500		2203	4300	6503	SO:0001819	synonymous_variant	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742500C>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.384C>A	2.37:g.113742500C>A						IL36G_ENST00000376489.2_Silent_p.S93S	p.S128S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			5	453	+			128					Q56B91|Q6UVX7|Q7RTZ9	Silent	SNP	ENST00000259205.4	37	c.384C>A	CCDS2108.1																																																																																				0.517	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		312	241	1	0	1.20034e-152	1	1.39239e-152	312	241					A	113742500	C	A	113742500	2	1	12	1	0	0	0	0	0	0	0	1	7687	581	21	3		3	IL1F9	2	113742500	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	26601513	113742500	129456873	30	1313											
TUBA3E	112714	broad.mit.edu	37	chr2	130951720	130951720	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatggaggacacgatctgcCcaatcaggcgattgaggttg	14	8	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:130951720C>G	ENST00000312988.7	-	4	795	c.695G>C	c.(694-696)gGg>gCg	p.G232A		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	232					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CACGATCTGCCCAATCAGGCG	0.557																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(694-696)gGg>gCg		tubulin, alpha 3e							174	125	142					2																	130951720		2203	4299	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951720C>G	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.695G>C	2.37:g.130951720C>G	ENSP00000318197:p.Gly232Ala						p.G232A	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	795	-	Colorectal(110;0.1)		232						Missense_Mutation	SNP	ENST00000312988.7	37	c.695G>C	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	1.947	-0.442080	0.04604	.	.	ENSG00000152086	ENST00000312988	T	0.62639	0.01	2.92	2.03	0.26663	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.51477	U	0.000098	T	0.22936	0.0554	N	0.00298	-1.69	0.40595	D	0.981527	B	0.06786	0.001	B	0.11329	0.006	T	0.05338	-1.0891	10	0.40728	T	0.16	.	7.853	0.29466	0.0:0.8675:0.0:0.1325	.	232	Q6PEY2	TBA3E_HUMAN	A	232	ENSP00000318197:G232A	ENSP00000318197:G232A	G	-	2	0	TUBA3E	130668190	0.251000	0.23961	0.947000	0.38551	0.110000	0.19582	4.932000	0.63476	0.582000	0.29556	-0.403000	0.06358	GGG		0.557	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		17	730	0	0	0	1	0	17	730					G	130951720	C	G	130951720	3	3	12	1	0	0	0	0	1	0	0	0	16802	623	22	5	665	5	TUBA3E	2	130951720	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	17209220	130951720	112247653	31	1314											
POTEE	445582	broad.mit.edu	37	chr2	131976197	131976197	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcccctgctgcaggggGagtggcaagagcaacgtggg	17	10	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:131976197G>A	ENST00000356920.5	+	1	316	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEE_ENST00000358087.5_Silent_p.G74G|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	74					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCTGCAGGGGGAGTGGCAAGA	0.587																																						ENST00000356920.5																			0											c.(220-222)ggG>ggA		POTE ankyrin domain family, member E							129	127	128					2																	131976197		2203	4300	6503	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976197G>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.222G>A	2.37:g.131976197G>A						PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.G74G|PLEKHB2_ENST00000303908.3_Intron	p.G74G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	316	+			74					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.222G>A	CCDS46414.1																																																																																				0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		44	870	0	0	0	1	0	44	870					A	131976197	G	A	131976197	2	1	12	1	0	0	0	0	0	0	0	1	12306	1161	41	2		2	POTEE	2	131976197	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	1024477	131976197	111223176	32	1315											
LRP1B	53353	broad.mit.edu	37	chr2	141298554	141298554	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttactcacacatctgtTgtcctctagcaatattcggt	5	11	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:141298554T>G	ENST00000389484.3	-	45	8472	c.7501A>C	c.(7501-7503)Aac>Cac	p.N2501H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2501	EGF-like 10. {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)			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)		ACACATCTGTTGTCCTCTAGC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(7501-7503)Aac>Cac		low density lipoprotein receptor-related protein 1B							163	150	154					2																	141298554		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298554T>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.7501A>C	2.37:g.141298554T>G	ENSP00000374135:p.Asn2501His	TSP Lung(27;0.18)					p.N2501H	NM_018557.2	NP_061027.2	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)	45	8472	-		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)	2501					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7501A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505660	0.64410	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	L	0.52759	1.655	0.53005	D	0.999969	D	0.89917	1.0	D	0.77004	0.989	D	0.92566	0.6062	10	0.34782	T	0.22	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	2501	Q9NZR2	LRP1B_HUMAN	H	2501;2439	ENSP00000374135:N2501H	ENSP00000374135:N2501H	N	-	1	0	LRP1B	141015024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.029000	0.64121	2.271000	0.75665	0.533000	0.62120	AAC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	346	0	0	0	1	0	42	346					G	141298554	T	G	141298554	3	3	12	1	0	0	0	0	1	0	0	0	8993	1812	63	4	6486	4	LRP1B	2	141298554	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	9322357	141298554	101900819	33	1316											
ACVR1C	130399	broad.mit.edu	37	chr2	158397669	158397669	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatagatgtcagctcgtttGaaggactcaaagatattcac	9	7	3	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:158397669G>T	ENST00000243349.8	-	7	1518	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L	ACVR1C_ENST00000335450.7_Missense_Mutation_p.F306L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.F336L|ACVR1C_ENST00000348328.5_Missense_Mutation_p.F229L	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAGCTCGTTTGAAGGACTCAA	0.378																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1156-1158)ttC>ttA		activin A receptor, type IC							143	145	144					2																	158397669		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397669G>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1158C>A	2.37:g.158397669G>T	ENSP00000243349:p.Phe386Leu					ACVR1C_ENST00000348328.5_Missense_Mutation_p.F229L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.F336L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.F306L	p.F386L	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1518	-			386			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1158C>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947748	0.73787	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.3	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000044	D	0.95014	0.8386	L	0.58101	1.795	0.58432	D	0.999991	D;D;D	0.69078	0.973;0.968;0.997	P;P;D	0.74674	0.873;0.589;0.984	D	0.94916	0.8069	10	0.87932	D	0	.	11.2611	0.49083	0.2097:0.0:0.7903:0.0	.	229;306;386	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	L	386;336;229;306	ENSP00000243349:F386L;ENSP00000387168:F336L;ENSP00000335139:F229L;ENSP00000335178:F306L	ENSP00000243349:F386L	F	-	3	2	ACVR1C	158105915	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.737000	0.47393	1.368000	0.46115	-0.218000	0.12543	TTC		0.378	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		19	435	1	0	1.40151e-16	1	1.54166e-16	19	435					T	158397669	G	T	158397669	3	4	12	1	0	0	0	0	1	0	0	0	222	1281	45	3	335	3	ACVR1C	2	158397669	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	17099115	158397669	84801704	34	1317											
SCN2A	6326	broad.mit.edu	37	chr2	166201075	166201075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttccagctccgagtttTcaagttggcaaaatcttggc	8	9	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:166201075T>C	ENST00000375437.2	+	16	2863	c.2573T>C	c.(2572-2574)tTc>tCc	p.F858S	SCN2A_ENST00000375427.2_Missense_Mutation_p.F858S|SCN2A_ENST00000357398.3_Missense_Mutation_p.F858S|SCN2A_ENST00000283256.6_Missense_Mutation_p.F858S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	858					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)			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)	CTCCGAGTTTTCAAGTTGGCA	0.328																																						ENST00000375437.2																			0				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						c.(2572-2574)tTc>tCc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						43	45	44					2																	166201075		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201075T>C	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.2573T>C	2.37:g.166201075T>C	ENSP00000364586:p.Phe858Ser					SCN2A_ENST00000283256.6_Missense_Mutation_p.F858S|SCN2A_ENST00000357398.3_Missense_Mutation_p.F858S|SCN2A_ENST00000375427.2_Missense_Mutation_p.F858S	p.F858S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			16	2863	+			858					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2573T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403154	0.83230	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.23	5.23	0.72850	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99393	0.9786	H	0.95645	3.7	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.91635	0.952;0.999	D	0.98537	1.0630	10	0.87932	D	0	.	15.4265	0.75055	0.0:0.0:0.0:1.0	.	858;858	Q99250-2;Q99250	.;SCN2A_HUMAN	S	858	ENSP00000364586:F858S;ENSP00000349973:F858S;ENSP00000283256:F858S;ENSP00000364576:F858S	ENSP00000283256:F858S	F	+	2	0	SCN2A	165909321	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.891000	0.87319	2.105000	0.64084	0.528000	0.53228	TTC		0.328	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		35	219	0	0	0	1	0	35	219					C	166201075	T	C	166201075	3	2	12	1	0	0	0	0	1	0	0	0	13966	1783	62	4	2727	4	SCN2A	2	166201075	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	7803406	166201075	76998298	35	1318											
DYNC1I2	1781	broad.mit.edu	37	chr2	172584337	172584337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttatttgcagtcagctGtgatgtctgccacatttgca	8	9	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:172584337G>A	ENST00000397119.3	+	12	1170	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V327M|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.V335M|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V329M|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V329M|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V327M|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V335M	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	335					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCAGTCAGCTGTGATGTCTGC	0.338																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1003-1005)Gtg>Atg		dynein, cytoplasmic 1, intermediate chain 2							73	66	68					2																	172584337		1857	4100	5957	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172584337G>A	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1003G>A	2.37:g.172584337G>A	ENSP00000380308:p.Val335Met					DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V329M|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V327M|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.V335M|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V327M|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V329M|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V309M	p.V335M			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		12	1171	+			335					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.1003G>A	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021793	0.75275	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	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	0.91635	0.972;0.999;0.998;0.997;0.997;0.999	D	0.92600	0.6090	10	0.87932	D	0	-10.8188	20.2626	0.98452	0.0:0.0:1.0:0.0	.	58;327;329;309;309;335	B4DX93;B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;.;DC1I2_HUMAN	M	309;335;329;335;327;309;309;329;335;335;327	ENSP00000339430:V309M;ENSP00000433791:V335M;ENSP00000263811:V329M;ENSP00000380308:V335M;ENSP00000386522:V327M;ENSP00000423339:V309M;ENSP00000386397:V309M;ENSP00000386591:V329M;ENSP00000386415:V335M;ENSP00000386886:V335M;ENSP00000350692:V327M	ENSP00000263811:V329M	V	+	1	0	DYNC1I2	172292583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.802000	0.96397	0.650000	0.86243	GTG		0.338	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		67	71	0	0	0	1	0	67	71					A	172584337	G	A	172584337	3	1	12	1	0	0	0	0	1	0	0	0	4859	1377	48	2	1045	2	DYNC1I2	2	172584337	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	6383262	172584337	70615036	36	1319											
EVX2	344191	broad.mit.edu	37	chr2	176947163	176947163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgccggcagccgagcCgctctctgcgtaccctggca	14	16	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:176947163C>T	ENST00000308618.4	-	2	578	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	148					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCAGCCGAGCCGCTCTCTGCG	0.721																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(442-444)Ggc>Agc		even-skipped homeobox 2							22	25	24					2																	176947163		1813	3659	5472	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947163C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.442G>A	2.37:g.176947163C>T	ENSP00000312385:p.Gly148Ser						p.G148S	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	578	-			148						Missense_Mutation	SNP	ENST00000308618.4	37	c.442G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201444	0.09652	.	.	ENSG00000174279	ENST00000308618	D	0.91843	-2.92	4.72	0.647	0.17796	.	0.709282	0.13524	N	0.381464	T	0.78553	0.4301	N	0.05078	-0.115	0.33174	D	0.54864	B	0.09022	0.002	B	0.04013	0.001	T	0.68484	-0.5396	10	0.07813	T	0.8	-15.852	9.6789	0.40059	0.0:0.5938:0.0:0.4062	.	148	Q03828	EVX2_HUMAN	S	148	ENSP00000312385:G148S	ENSP00000312385:G148S	G	-	1	0	EVX2	176655409	0.997000	0.39634	0.727000	0.30756	0.053000	0.15095	0.618000	0.24373	0.244000	0.21351	-0.812000	0.03155	GGC		0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	134	0	0	0	1	0	4	134					T	176947163	C	T	176947163	3	4	12	1	0	0	0	0	1	0	0	0	5313	652	23	1	994	1	EVX2	2	176947163	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4362826	176947163	66252210	37	1320											
ABCA12	26154	broad.mit.edu	37	chr2	215848571	215848571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgctgaggccccaaaCagcccagttaacatggaact	10	13	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:215848571C>T	ENST00000272895.7	-	29	4401	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L	ABCA12_ENST00000389661.4_Silent_p.L1076L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1394	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGCCCCAAACAGCCCAGTTA	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4180-4182)ctG>ctA		ATP-binding cassette, sub-family A (ABC1), member 12							90	85	86					2																	215848571		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215848571C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4182G>A	2.37:g.215848571C>T						ABCA12_ENST00000389661.4_Silent_p.L1076L	p.L1394L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	29	4401	-		Renal(323;0.127)	1394			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.4182G>A	CCDS33372.1																																																																																				0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		62	114	0	0	0	1	0	62	114					T	215848571	C	T	215848571	2	4	12	1	0	0	0	0	0	0	0	1	30	465	17	2		2	ABCA12	2	215848571	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	38901408	215848571	27350802	38	1321											
COL4A4	1286	broad.mit.edu	37	chr2	227872866	227872866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagcggctgacataggggcgGatcgcctcttcagagagtgg	16	10	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:227872866G>C	ENST00000396625.3	-	47	4884	c.4677C>G	c.(4675-4677)atC>atG	p.I1559M	COL4A4_ENST00000329662.7_Missense_Mutation_p.I1556M	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1559	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CATAGGGGCGGATCGCCTCTT	0.657																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4675-4677)atC>atG		collagen, type IV, alpha 4							33	40	38					2																	227872866		2072	4189	6261	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227872866G>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4677C>G	2.37:g.227872866G>C	ENSP00000379866:p.Ile1559Met					COL4A4_ENST00000329662.7_Missense_Mutation_p.I1556M	p.I1559M	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	47	4884	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1559			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4677C>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234549	0.22626	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94966	-3.57;-3.57	5.91	1.68	0.24146	C-type lectin fold (1);	.	.	.	.	D	0.96476	0.8850	M	0.88842	2.985	0.36197	D	0.850447	P	0.44776	0.843	D	0.66847	0.947	D	0.94675	0.7860	9	0.66056	D	0.02	.	2.3425	0.04263	0.2331:0.0964:0.4846:0.1859	.	1559	P53420	CO4A4_HUMAN	M	1559;1556	ENSP00000379866:I1559M;ENSP00000328553:I1556M	ENSP00000328553:I1556M	I	-	3	3	COL4A4	227581110	0.098000	0.21812	1.000000	0.80357	0.210000	0.24377	0.325000	0.19628	0.395000	0.25257	0.655000	0.94253	ATC		0.657	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		21	100	0	0	0	1	0	21	100					C	227872866	G	C	227872866	3	2	12	1	0	0	0	0	1	0	0	0	3702	1164	41	5	403	5	COL4A4	2	227872866	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	12024295	227872866	15326507	39	1322											
CXCR7	57007	broad.mit.edu	37	chr2	237489598	237489598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggtacgccgtgtcGtctgcatcctggtgtggctg	15	9	1	2	rs565164449		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:237489598G>A	ENST00000272928.3	+	2	800	c.490G>A	c.(490-492)Gtc>Atc	p.V164I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	164					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										ACGCCGTGTCGTCTGCATCCT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		23207	0.0		0.0	False		,,,				2504	0.001					ENST00000272928.3																			0											c.(490-492)Gtc>Atc		atypical chemokine receptor 3							174	150	158					2																	237489598		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489598G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.490G>A	2.37:g.237489598G>A	ENSP00000272928:p.Val164Ile						p.V164I	NM_020311.2	NP_064707.1					2	800	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.490G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	5.910	0.351918	0.11182	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.36878	1.23;1.23	5.7	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.196767	0.43919	D	0.000519	T	0.19406	0.0466	N	0.17872	0.535	0.38386	D	0.945267	B	0.16802	0.019	B	0.12156	0.007	T	0.13872	-1.0493	10	0.14656	T	0.56	.	6.8618	0.24072	0.1968:0.0:0.8032:0.0	.	164	P25106	CXCR7_HUMAN	I	164	ENSP00000405945:V164I;ENSP00000272928:V164I	ENSP00000272928:V164I	V	+	1	0	CXCR7	237154337	0.997000	0.39634	0.159000	0.22649	0.286000	0.27126	2.955000	0.49121	2.688000	0.91661	0.655000	0.94253	GTC		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		7	398	0	0	0	1	0	7	398					A	237489598	G	A	237489598	3	1	12	1	0	0	0	0	1	0	0	0	4107	1145	40	1	492	1	CXCR7	2	237489598	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	9616732	237489598	5709775	40	1323											
ITPR1	3708	broad.mit.edu	37	chr3	4735395	4735395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggatgacatcgttcgCgtggtgacccacgaggactg	14	12	0	2	rs375223250		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:4735395C>T	ENST00000443694.2	+	30	4206	c.4206C>T	c.(4204-4206)cgC>cgT	p.R1402R	ITPR1_ENST00000423119.2_Silent_p.R1408R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R1417R|ITPR1_ENST00000302640.8_Silent_p.R1402R|ITPR1_ENST00000357086.4_Silent_p.R1408R|ITPR1_ENST00000456211.2_Silent_p.R1393R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1417					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACATCGTTCGCGTGGTGACCC	0.592																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4249-4251)cgC>cgT		inositol 1,4,5-trisphosphate receptor, type 1		C	,,	1,4389		0,1,2194	49	56	53		4224,4206,4179	-8.7	0.8	3		53	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	,,	1408/2711,1402/2744,1393/2696	4735395	1,12981	2195	4296	6491	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4735395C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4206C>T	3.37:g.4735395C>T						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.R1393R|ITPR1_ENST00000443694.2_Silent_p.R1402R|ITPR1_ENST00000423119.2_Silent_p.R1408R|ITPR1_ENST00000357086.4_Silent_p.R1408R|ITPR1_ENST00000302640.8_Silent_p.R1402R	p.R1417R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	33	4601	+			1417					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.4251C>T	CCDS54551.1																																																																																				0.592	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		10	81	0	0	0	1	0	10	81					T	4735395	C	T	4735395	2	4	12	1	0	0	0	0	0	0	0	1	7950	755	27	1		1	ITPR1	3	4735395	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		4735395	193287035	41	1324											
TMEM40	55287	broad.mit.edu	37	chr3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-													atgaggaggatgaggaggaaGaggaggaggaggaagaagac							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	735						8	735	---	---	---	---	-	12790200	GAG	-	12790198	7	5	12	1	0	1	0	1	0	0	0	0	16215	942	33	0	574	0	TMEM40	3	12790198	In_Frame_Del	DEL	GAG	TCGA-2J-AABP-01A-11D-A40W-08	8054803	12790198	185232232	42	1325											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtactctttcaggatgCgggctgaagggtctaaggaa	14	6	3	1	rs147577833	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121	122	122					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		6	851	0	0	0	1	0	6	851					T	15115677	C	T	15115677	3	4	12	1	0	0	0	0	1	0	0	0	17719	768	27	1	391	1	ZFYVE20	3	15115677	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2325479	15115677	182906753	43	1326											
CMTM8	152189	broad.mit.edu	37	chr3	32398865	32398865	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctaccactttacagGttctggggctgctggtatgg	12	10	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:32398865G>T	ENST00000307526.3	+	2	442	c.148G>T	c.(148-150)Gtt>Ttt	p.V50F	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	50	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CACTTTACAGGTTCTGGGGCT	0.448																																						ENST00000307526.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.e2-1		CKLF-like MARVEL transmembrane domain containing 8							139	132	135					3																	32398865		2203	4300	6503	SO:0001630	splice_region_variant	152189				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32398865G>T	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.148-1G>T	3.37:g.32398865G>T						CMTM8_ENST00000458535.2_Intron	p.V50_splice	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN			2	442	+			50			MARVEL.		A5D6I7|Q8IW01	Splice_Site	SNP	ENST00000307526.3	37	c.147_splice	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605684	0.46527	.	.	ENSG00000170293	ENST00000307526	T	0.32272	1.46	6.08	1.98	0.26296	Marvel (1);MARVEL-like domain (1);	0.357882	0.26341	N	0.024928	T	0.36303	0.0962	L	0.56280	1.765	0.50171	D	0.999856	P	0.51147	0.942	P	0.51487	0.671	T	0.03597	-1.1021	9	.	.	.	.	10.346	0.43906	0.499:0.0:0.501:0.0	.	50	Q8IZV2	CKLF8_HUMAN	F	50	ENSP00000307741:V50F	.	V	+	1	0	CMTM8	32373869	1.000000	0.71417	0.952000	0.39060	0.397000	0.30659	1.216000	0.32443	0.066000	0.16515	0.591000	0.81541	GTT		0.448	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868	Missense_Mutation	46	528	1	0	3.28156e-27	1	3.73863e-27	46	528					T	32398865	G	T	32398865	5	4	12	1	0	0	0	0	0	0	1	0	3598	1275	44	3	154	3	CMTM8	3	32398865	Splice_Site	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	17283188	32398865	165623565	44	1327											
MYL3	4634	broad.mit.edu	37	chr3	46902236	46902236	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctggcccagcgcccgcagGacatccccacactgcccgta	9	19	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:46902236G>T	ENST00000395869.1	-	3	288	c.237C>A	c.(235-237)gtC>gtA	p.V79V	MYL3_ENST00000292327.4_Silent_p.V79V			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	79	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCGCCCGCAGGACATCCCCAC	0.607																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(235-237)gtC>gtA		myosin, light chain 3, alkali; ventricular, skeletal, slow							104	105	105					3																	46902236		2203	4300	6503	SO:0001819	synonymous_variant	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46902236G>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.237C>A	3.37:g.46902236G>T						MYL3_ENST00000292327.4_Silent_p.V79V	p.V79V			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	3	288	-			79			EF-hand 1.		B2R534|Q9NRS8	Silent	SNP	ENST00000395869.1	37	c.237C>A	CCDS2746.1																																																																																				0.607	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		53	385	1	0	1.39843e-22	1	1.56526e-22	53	385					T	46902236	G	T	46902236	2	4	12	1	0	0	0	0	0	0	0	1	10089	1161	41	3		3	MYL3	3	46902236	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	14503371	46902236	151120194	45	1328											
BSN	8927	broad.mit.edu	37	chr3	49698770	49698770	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaccaactatgaggtgatCgccagccccgttgtgcccat	9	16	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:49698770C>T	ENST00000296452.4	+	6	9606	c.9492C>T	c.(9490-9492)atC>atT	p.I3164I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3164					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGAGGTGATCGCCAGCCCCG	0.607																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(9490-9492)atC>atT		bassoon presynaptic cytomatrix protein							81	63	69					3																	49698770		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698770C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9492C>T	3.37:g.49698770C>T							p.I3164I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9606	+			3164					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.9492C>T	CCDS2800.1																																																																																				0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	241	0	0	0	1	0	8	241					T	49698770	C	T	49698770	2	4	12	1	0	0	0	0	0	0	0	1	1534	874	31	1		1	BSN	3	49698770	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2796534	49698770	148323660	46	1329											
CACNA2D2	9254	broad.mit.edu	37	chr3	50417244	50417244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagggtcaggccgctcAcactgccactcctggagagg	13	14	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:50417244A>T	ENST00000479441.1	-	10	904	c.905T>A	c.(904-906)gTg>gAg	p.V302E	CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V302E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V233E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	302	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGGCCGCTCACACTGCCACT	0.587																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(904-906)gTg>gAg		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						96	82	87					3																	50417244		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417244A>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.905T>A	3.37:g.50417244A>T	ENSP00000418081:p.Val302Glu					CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V302E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V233E	p.V302E			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	10	1078	-			302			VWFA.		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.905T>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237025	0.79800	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.0	5.0	0.66597	von Willebrand factor, type A (3);	0.128893	0.51477	D	0.000093	T	0.42720	0.1215	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.42982	-0.9419	10	0.87932	D	0	-14.677	14.7124	0.69244	1.0:0.0:0.0:0.0	.	302;302	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	302;302;302;233;302;302;302;302	ENSP00000407393:V302E;ENSP00000404631:V302E;ENSP00000266039:V302E;ENSP00000354228:V233E;ENSP00000390526:V302E;ENSP00000378519:V302E;ENSP00000390329:V302E;ENSP00000418081:V302E	ENSP00000266039:V302E	V	-	2	0	CACNA2D2	50392248	1.000000	0.71417	0.819000	0.32651	0.908000	0.53690	9.254000	0.95512	1.878000	0.54408	0.459000	0.35465	GTG		0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		8	218	0	0	0	1	0	8	218					T	50417244	A	T	50417244	3	4	12	1	0	0	0	0	1	0	0	0	2556	159	6	5	2673	5	CACNA2D2	3	50417244	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	718474	50417244	147605186	47	1330											
NEK11	79858	broad.mit.edu	37	chr3	130881264	130881264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttataggcaaaaaaggatCcacctgcagactctgagggc	10	9	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:130881264C>T	ENST00000510769.1	+	7	913	c.660C>T	c.(658-660)atC>atT	p.I220I	NEK11_ENST00000508196.1_Silent_p.I325I|NEK11_ENST00000510688.1_Silent_p.I325I|NEK11_ENST00000356918.4_Silent_p.I325I|NEK11_ENST00000511262.1_Silent_p.I325I|NEK11_ENST00000412440.2_Silent_p.I177I|NEK11_ENST00000429253.2_Silent_p.I325I|NEK11_ENST00000383366.4_Silent_p.I325I|NEK11_ENST00000507910.1_Silent_p.I325I					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAAAAGGATCCACCTGCAGA	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(973-975)atC>atT		NIMA-related kinase 11							140	162	154					3																	130881264		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881264C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.660C>T	3.37:g.130881264C>T						NEK11_ENST00000511262.1_Silent_p.I325I|NEK11_ENST00000429253.2_Silent_p.I325I|NEK11_ENST00000510688.1_Silent_p.I325I|NEK11_ENST00000356918.4_Silent_p.I325I|NEK11_ENST00000507910.1_Silent_p.I325I|NEK11_ENST00000412440.2_Silent_p.I177I|NEK11_ENST00000508196.1_Silent_p.I325I|NEK11_ENST00000510769.1_Silent_p.I220I	p.I325I	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1268	+			325						Silent	SNP	ENST00000510769.1	37	c.975C>T																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		108	858	0	0	0	1	0	108	858					T	130881264	C	T	130881264	2	4	12	1	0	0	0	0	0	0	0	1	10365	845	30	2		2	NEK11	3	130881264	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	80464020	130881264	67141166	48	1331											
KNG1	3827	broad.mit.edu	37	chr3	186435487	186435487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaaaccaaagtaacaaCcagtttgtattgtaccgcat	6	9	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:186435487C>A	ENST00000265023.4	+	1	368	c.156C>A	c.(154-156)aaC>aaA	p.N52K	KNG1_ENST00000287611.2_Missense_Mutation_p.N52K|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.N52K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	52	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAAGTAACAACCAGTTTGTAT	0.398																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(154-156)aaC>aaA		kininogen 1	Ouabain(DB01092)						105	104	105					3																	186435487		2203	4297	6500	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186435487C>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.156C>A	3.37:g.186435487C>A	ENSP00000265023:p.Asn52Lys					KNG1_ENST00000447445.1_Missense_Mutation_p.N52K|KNG1_ENST00000287611.2_Missense_Mutation_p.N52K|RP11-573D15.8_ENST00000599314.1_RNA	p.N52K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	1	368	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		52			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.156C>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817587	0.32145	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.13196	2.61;2.61;2.61	5.0	3.18	0.36537	Proteinase inhibitor I25, cystatin (2);	0.103499	0.41396	D	0.000882	T	0.33206	0.0855	M	0.81239	2.535	0.36876	D	0.889177	P;D	0.76494	0.916;0.999	P;D	0.74674	0.877;0.984	T	0.30563	-0.9974	10	0.52906	T	0.07	-15.9073	7.2824	0.26318	0.0:0.8001:0.0:0.1999	.	52;52	P01042;P01042-2	KNG1_HUMAN;.	K	52;52;52;40	ENSP00000287611:N52K;ENSP00000265023:N52K;ENSP00000396025:N52K	ENSP00000265023:N52K	N	+	3	2	KNG1	187918181	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	0.509000	0.22707	1.245000	0.43885	-0.463000	0.05309	AAC		0.398	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		12	317	1	0	5.50884e-06	1	5.79973e-06	12	317					A	186435487	C	A	186435487	3	1	12	1	0	0	0	0	1	0	0	0	8457	506	18	3	158	3	KNG1	3	186435487	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	55554223	186435487	11586943	49	1332											
ZNF595	152687	broad.mit.edu	37	chr4	59339	59339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaactcgtaacattcaGggatgtggccatagaattct	10	8	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:59339G>A	ENST00000509152.2	+	2	205	c.20G>A	c.(19-21)aGg>aAg	p.R7K	ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTAACATTCAGGGATGTGGCC	0.418																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(19-21)aGg>aAg		zinc finger protein 595							357	384	375					4																	59339		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59339G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.20G>A	4.37:g.59339G>A	ENSP00000434858:p.Arg7Lys					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K	p.R7K						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	205	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.20G>A		.	.	.	.	.	.	.	.	.	.	G	10.81	1.454703	0.26161	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.01369	4.97;4.97	1.26	-0.985	0.10256	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	.	.	.	0.21967	N	0.999441	P	0.40144	0.704	P	0.45071	0.468	T	0.44757	-0.9307	8	0.62326	D	0.03	.	4.7376	0.12995	0.6636:0.0:0.3364:0.0	.	7	Q8IYB9	ZN595_HUMAN	K	7	ENSP00000434858:R7K;ENSP00000437878:R7K	ENSP00000434858:R7K	R	+	2	0	ZNF595	49339	0.629000	0.27146	0.486000	0.27416	0.195000	0.23768	-0.561000	0.05957	-0.176000	0.10707	-0.350000	0.07774	AGG		0.418	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		41	1688	0	0	0	1	0	41	1688					A	59339	G	A	59339	3	1	12	1	0	0	0	0	1	0	0	0	18078	1000	35	2	26	2	ZNF595	4	59339	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		59339	191094937	50	1333											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984296	41984296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgctgctcccagcgtcgCggttcttaagtgttcacaca	10	13	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:41984296C>T	ENST00000333141.5	+	1	584	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	163								p.R163W(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCCAGCGTCGCGGTTCTTAAG	0.587																																						ENST00000333141.5																			1	Substitution - Missense(1)	p.R163W(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(487-489)Cgg>Tgg		DDB1 and CUL4 associated factor 4-like 1							91	87	89					4																	41984296		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984296C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.487C>T	4.37:g.41984296C>T	ENSP00000327796:p.Arg163Trp						p.R163W	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	584	+			163					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.487C>T	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433851	0.25813	.	.	ENSG00000182308	ENST00000333141	T	0.71934	-0.61	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.131807	0.51477	D	0.000084	T	0.41880	0.1178	N	0.08118	0	0.24232	N	0.995396	B	0.30937	0.301	B	0.04013	0.001	T	0.41431	-0.9509	9	0.87932	D	0	.	.	.	.	.	163	Q3SXM0	DC4L1_HUMAN	W	163	ENSP00000327796:R163W	ENSP00000327796:R163W	R	+	1	2	DCAF4L1	41679053	0.037000	0.19845	0.087000	0.20705	0.110000	0.19582	0.221000	0.17680	0.635000	0.30488	0.313000	0.20887	CGG		0.587	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		39	547	0	0	0	1	0	39	547					T	41984296	C	T	41984296	3	4	12	1	0	0	0	0	1	0	0	0	4282	759	27	1	489	1	DCAF4L1	4	41984296	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	41924957	41984296	149169980	51	1334											
SHISA3	152573	broad.mit.edu	37	chr4	42403193	42403193	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagacagagaccctgcccAtgatcctgacctccaccagc	7	17	1	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:42403193A>C	ENST00000319234.4	+	2	660	c.442A>C	c.(442-444)Atg>Ctg	p.M148L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	148					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GACCCTGCCCATGATCCTGAC	0.607																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(442-444)Atg>Ctg		shisa family member 3							146	156	153					4																	42403193		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403193A>C	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.442A>C	4.37:g.42403193A>C	ENSP00000326445:p.Met148Leu						p.M148L	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	660	+			148					A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.442A>C	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816342	0.90790	.	.	ENSG00000178343	ENST00000319234	T	0.39787	1.06	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.65498	2.005	0.80722	D	1	P	0.44309	0.832	D	0.64042	0.921	T	0.54497	-0.8285	10	0.20519	T	0.43	-25.9018	14.8086	0.69977	1.0:0.0:0.0:0.0	.	148	A0PJX4	SHSA3_HUMAN	L	148	ENSP00000326445:M148L	ENSP00000326445:M148L	M	+	1	0	SHISA3	42097950	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.100000	0.94213	2.174000	0.68829	0.533000	0.62120	ATG		0.607	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		8	1331	0	0	0	1	0	8	1331					C	42403193	A	C	42403193	3	2	12	1	0	0	0	0	1	0	0	0	14331	217	8	4	448	4	SHISA3	4	42403193	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	418897	42403193	148751083	52	1335											
FRYL	285527	broad.mit.edu	37	chr4	48563497	48563497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatacctgagaatatggCgagagttagctcaggatacg	12	7	2	2	rs200059812	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:48563497C>T	ENST00000503238.1	-	30	3852	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	FRYL_ENST00000507711.1_Missense_Mutation_p.A1285T|FRYL_ENST00000358350.4_Missense_Mutation_p.A1285T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A1285T			O94915	FRYL_HUMAN	FRY-like	1285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGAATATGGCGAGAGTTAGC	0.358																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3853-3855)Gcc>Acc		FRY-like		C	THR/ALA	3,3759		0,3,1878	90	85	87		3853	5.8	1	4		87	37,8175		0,37,4069	yes	missense	FRYL	NM_015030.1	58	0,40,5947	TT,TC,CC		0.4506,0.0797,0.3341	benign	1285/3014	48563497	40,11934	1881	4106	5987	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48563497C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3853G>A	4.37:g.48563497C>T	ENSP00000426064:p.Ala1285Thr					FRYL_ENST00000503238.1_Missense_Mutation_p.A1285T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A1285T|FRYL_ENST00000537810.1_Missense_Mutation_p.A1285T	p.A1285T	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			33	4457	-			1285					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3853G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.798330|2.798330	0.50208|0.50208	7.97E-4|7.97E-4	0.004506|0.004506	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.41065|.	2.01;2.01;2.01;1.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.244684|.	0.42682|.	D|.	0.000664|.	T|T	0.50973|0.50973	0.1647|0.1647	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	P;B;B|.	0.35844|.	0.524;0.093;0.398|.	B;B;B|.	0.30855|.	0.121;0.058;0.103|.	T|T	0.44050|0.44050	-0.9353|-0.9353	10|5	0.13853|.	T|.	0.58|.	.|.	20.1013|20.1013	0.97878|0.97878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1285;116;1285|.	F2Z2S2;Q6ZR29;O94915|.	.;.;FRYL_HUMAN|.	T|H	1285|155	ENSP00000426064:A1285T;ENSP00000351113:A1285T;ENSP00000441114:A1285T;ENSP00000421584:A1285T|.	ENSP00000351113:A1285T|.	A|R	-|-	1|2	0|0	FRYL|FRYL	48258254|48258254	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.066000|0.066000	0.16364|0.16364	5.909000|5.909000	0.69923|0.69923	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.358	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			245	158	0	0	0	1	0	245	158					T	48563497	C	T	48563497	3	4	12	1	0	0	0	0	1	0	0	0	6091	768	27	1	5316	1	FRYL	4	48563497	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	6160304	48563497	142590779	53	1336											
KIAA1211	57482	broad.mit.edu	37	chr4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcgaccaacaggcagaacAgaagaagaagaagaggcaca							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cagaag>cag	p.K870del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.K870del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.K863del			Q6ZU35	K1211_HUMAN	KIAA1211	870	Poly-Lys.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCAGAACAGAAGAAGAAGAA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2596-2601)cag>c		KIAA1211				13,4193		0,13,2090						4.9	0.2			52	31,8179		2,27,4076	no	coding	KIAA1211	NM_020722.1		2,40,6166	A1A1,A1R,RR		0.3776,0.3091,0.3544				44,12372				SO:0001651	inframe_deletion	57482							g.chr4:57182265_57182267delAGA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2597_2599delAGA	4.37:g.57182274_57182276delAGA	ENSP00000423366:p.Lys870del					KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del	p.QK866del			Q6ZU35	K1211_HUMAN			6	2702_2704	+	Glioma(25;0.08)|all_neural(26;0.101)		866					Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.2597_2599delAGA	CCDS43230.1																																																																																				0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	394						8	394	---	---	---	---	-	57182267	AGA	-	57182265	7	5	12	1	0	1	0	1	0	0	0	0	8245	188	7	0	2615	0	KIAA1211	4	57182265	In_Frame_Del	DEL	AGA	TCGA-2J-AABP-01A-11D-A40W-08	8618768	57182265	133972011	54	1337											
STAP1	26228	broad.mit.edu	37	chr4	68436828	68436828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcattactggacagagttGagaggaactactcttttctt	10	7	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:68436828G>T	ENST00000265404.2	+	2	229	c.147G>T	c.(145-147)ttG>ttT	p.L49F	STAP1_ENST00000396225.1_Missense_Mutation_p.L49F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GGACAGAGTTGAGAGGAACTA	0.308																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(145-147)ttG>ttT		signal transducing adaptor family member 1							149	170	163					4																	68436828		2203	4299	6502	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436828G>T	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.147G>T	4.37:g.68436828G>T	ENSP00000265404:p.Leu49Phe					STAP1_ENST00000396225.1_Missense_Mutation_p.L49F	p.L49F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			2	229	+			49			PH.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.147G>T	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173803	0.57692	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.91792	-2.91;-2.91	4.36	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	D	0.93919	0.8054	M	0.78637	2.42	0.43579	D	0.995917	D	0.55800	0.973	P	0.58577	0.841	D	0.93272	0.6652	10	0.72032	D	0.01	-1.3554	7.912	0.29796	0.1137:0.0:0.8863:0.0	.	49	Q9ULZ2	STAP1_HUMAN	F	49	ENSP00000265404:L49F;ENSP00000379527:L49F	ENSP00000265404:L49F	L	+	3	2	STAP1	68119423	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.064000	0.30579	1.182000	0.42928	0.430000	0.28490	TTG		0.308	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		65	805	1	0	3.37205e-40	1	3.86937e-40	65	805					T	68436828	G	T	68436828	3	4	12	1	0	0	0	0	1	0	0	0	15304	1281	45	3	153	3	STAP1	4	68436828	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	11254563	68436828	122717448	55	1338											
SLC4A4	8671	broad.mit.edu	37	chr4	72317017	72317017	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaattgcagcgaactggaCggtaactgacagtttccttt	10	8	0	2	rs530167253		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:72317017C>T	ENST00000264485.5	+	11	1438	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SLC4A4_ENST00000340595.3_Splice_Site_p.R397W|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Splice_Site_p.R441W|SLC4A4_ENST00000512686.1_Splice_Site_p.R397W|SLC4A4_ENST00000351898.6_Splice_Site_p.R441W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCGAACTGGACGGTAACTGAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19879	0.0		0.0	False		,,,				2504	0.001					ENST00000340595.3																			1	Substitution - Missense(1)	p.R397W(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e8+1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							205	161	176					4																	72317017		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72317017C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1322+1C>T	4.37:g.72317017C>T						SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Splice_Site_p.R441_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.R441_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.R441_splice|SLC4A4_ENST00000512686.1_Splice_Site_p.R397_splice	p.R397_splice	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		8	1385	+			441					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37	c.1190_splice	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125221	0.56721	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	6.08	1.91	0.25777	Bicarbonate transporter, C-terminal (1);	0.042903	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.98;0.901;0.982;0.973	D	0.93676	0.6994	10	0.87932	D	0	.	15.7218	0.77718	0.6097:0.3903:0.0:0.0	.	441;441;397;397;421;441	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	441;441;441;397;397	ENSP00000264485:R441W;ENSP00000393557:R441W;ENSP00000307349:R441W;ENSP00000422400:R397W;ENSP00000344272:R397W	ENSP00000264485:R441W	R	+	1	2	SLC4A4	72535881	0.995000	0.38212	1.000000	0.80357	0.361000	0.29550	0.958000	0.29227	0.424000	0.26061	-0.122000	0.15005	CGG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Missense_Mutation	10	211	0	0	0	1	0	10	211					T	72317017	C	T	72317017	5	4	12	1	0	0	0	0	0	0	1	0	14706	550	19	1	1480	1	SLC4A4	4	72317017	Splice_Site	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	3880189	72317017	118837259	56	1339											
GC	2638	broad.mit.edu	37	chr4	72618261	72618261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacagtaaagaggaggtgAgtttatggaacagcagttgg	14	4	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:72618261A>G	ENST00000273951.8	-	11	1712	c.1369T>C	c.(1369-1371)Tca>Cca	p.S457P	GC_ENST00000513476.1_Missense_Mutation_p.S457P|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S476P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	457	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AGAGGAGGTGAGTTTATGGAA	0.438																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(1369-1371)Tca>Cca		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						178	155	163					4																	72618261		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72618261A>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1369T>C	4.37:g.72618261A>G	ENSP00000273951:p.Ser457Pro					GC_ENST00000504199.1_Missense_Mutation_p.S476P|GC_ENST00000513476.1_Missense_Mutation_p.S457P|GC_ENST00000503472.1_5'UTR	p.S457P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		11	1712	-		all_hematologic(202;0.107)	457			Albumin 3.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1369T>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895195	0.52121	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.26373	1.74;1.74;1.74	5.33	4.06	0.47325	.	0.158365	0.43579	D	0.000552	T	0.45498	0.1345	M	0.67953	2.075	0.37795	D	0.927481	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.52079	-0.8623	10	0.72032	D	0.01	.	9.9279	0.41503	0.8295:0.1705:0.0:0.0	.	476;457	D6RAK8;D6RF35	.;.	P	457;476;457	ENSP00000273951:S457P;ENSP00000421725:S476P;ENSP00000426683:S457P	ENSP00000273951:S457P	S	-	1	0	GC	72837125	0.999000	0.42202	0.981000	0.43875	0.371000	0.29859	1.903000	0.39858	2.145000	0.66743	0.477000	0.44152	TCA		0.438	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			5	350	0	0	0	1	0	5	350					G	72618261	A	G	72618261	3	3	12	1	0	0	0	0	1	0	0	0	6310	304	11	4	63	4	GC	4	72618261	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	301244	72618261	118536015	57	1340											
PDLIM5	10611	broad.mit.edu	37	chr4	95506861	95506861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcgctctttccgaatcCttgcccagatcactgggact	8	14	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:95506861C>T	ENST00000317968.4	+	6	992	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	286					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTCCGAATCCTTGCCCAGAT	0.468																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(856-858)Ctt>Ttt		PDZ and LIM domain 5							103	89	94					4																	95506861		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95506861C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.856C>T	4.37:g.95506861C>T	ENSP00000321746:p.Leu286Phe					PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F	p.L286F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	6	992	+		Hepatocellular(203;0.114)	286					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.856C>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654354	0.88056	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;D	0.83673	-0.97;-0.34;-0.33;-0.25;-0.67;-1.07;-1.02;-1.49;-0.34;-1.75	5.31	4.45	0.53987	.	0.068559	0.64402	D	0.000016	D	0.89715	0.6795	M	0.72118	2.19	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;0.998;0.999;1.0;0.948;1.0	D;P;D;D;P;D	0.97110	0.999;0.905;0.999;1.0;0.529;1.0	D	0.89439	0.3722	10	0.48119	T	0.1	.	14.8543	0.70323	0.0:0.9269:0.0:0.0731	.	183;183;286;177;183;163	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	F	177;183;163;183;163;286;183;164;183;183	ENSP00000398469:L177F;ENSP00000369527:L183F;ENSP00000322021:L163F;ENSP00000401579:L183F;ENSP00000439795:L163F;ENSP00000321746:L286F;ENSP00000424297:L183F;ENSP00000442187:L164F;ENSP00000426804:L183F;ENSP00000424360:L183F	ENSP00000321746:L286F	L	+	1	0	PDLIM5	95725884	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.610000	0.61155	2.624000	0.88883	0.650000	0.86243	CTT		0.468	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			13	212	0	0	0	1	0	13	212					T	95506861	C	T	95506861	3	4	12	1	0	0	0	0	1	0	0	0	11725	681	24	2	936	2	PDLIM5	4	95506861	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	22888600	95506861	95647415	58	1341											
TSPAN5	10098	broad.mit.edu	37	chr4	99399943	99399943	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttccaatcatcagctccaaAagccccacagcactgccact	5	17	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:99399943A>T	ENST00000305798.3	-	5	871	c.469T>A	c.(469-471)Ttt>Att	p.F157I	TSPAN5_ENST00000505184.1_Missense_Mutation_p.F86I|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	157					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCAGCTCCAAAAGCCCCACAG	0.483																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(469-471)Ttt>Att		tetraspanin 5							77	74	75					4																	99399943		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99399943A>T		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.469T>A	4.37:g.99399943A>T	ENSP00000307701:p.Phe157Ile					TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.F86I	p.F157I	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	5	871	-			157					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.469T>A	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703160	0.48412	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287	T;T;T	0.78924	-1.22;-1.22;-1.22	5.27	5.27	0.74061	Tetraspanin, EC2 domain (1);	0.045332	0.85682	D	0.000000	T	0.67116	0.2859	N	0.21142	0.635	0.80722	D	1	B	0.24651	0.108	B	0.29267	0.1	T	0.62699	-0.6799	10	0.23302	T	0.38	-13.2822	15.2341	0.73416	1.0:0.0:0.0:0.0	.	157	P62079	TSN5_HUMAN	I	157;86;86	ENSP00000307701:F157I;ENSP00000423916:F86I;ENSP00000423504:F86I	ENSP00000307701:F157I	F	-	1	0	TSPAN5	99618966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.000000	0.58554	0.454000	0.30748	TTT		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		14	174	0	0	0	1	0	14	174					T	99399943	A	T	99399943	3	4	12	1	0	0	0	0	1	0	0	0	16703	14	1	5	353	5	TSPAN5	4	99399943	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	3893082	99399943	91754333	59	1342											
SCLT1	132320	broad.mit.edu	37	chr4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T													cccaggggaaaggcctccaaINSttttttttcaacagcatctt							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	397						7	397	---	---	---	---	T	129924995	-	T	129924994	7	5	12	1	0	1	1	0	0	0	0	0	13956	98	4	0	1802	0	SCLT1	4	129924994	Frame_Shift_Ins	INS	-	TCGA-2J-AABP-01A-11D-A40W-08	30525051	129924994	61229282	60	1343											
NEIL3	55247	broad.mit.edu	37	chr4	178257339	178257339	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgaatttagtttcttgaGagcagaaagtgaagttaaaa	9	4	1	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:178257339G>T	ENST00000264596.3	+	4	609	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	164					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGTTTCTTGAGAGCAGAAAGT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(490-492)aGa>aTa	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							116	121	119					4																	178257339		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178257339G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.491G>T	4.37:g.178257339G>T	ENSP00000264596:p.Arg164Ile						p.R164I	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	4	609	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	164					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.491G>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092638	0.56075	.	.	ENSG00000109674	ENST00000264596	T	0.13778	2.56	4.93	4.93	0.64822	Ribosomal protein S13-like, H2TH (1);	0.049744	0.85682	D	0.000000	T	0.42291	0.1196	M	0.85630	2.765	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.42189	-0.9466	10	0.59425	D	0.04	-15.3264	17.6857	0.88255	0.0:0.0:1.0:0.0	.	164	Q8TAT5	NEIL3_HUMAN	I	164	ENSP00000264596:R164I	ENSP00000264596:R164I	R	+	2	0	NEIL3	178494333	1.000000	0.71417	0.991000	0.47740	0.253000	0.25986	7.160000	0.77495	2.713000	0.92767	0.655000	0.94253	AGA		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		7	277	1	0	0.27861	1	0.27861	7	277					T	178257339	G	T	178257339	3	4	12	1	0	0	0	0	1	0	0	0	10362	942	33	3	505	3	NEIL3	4	178257339	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	48332345	178257339	12896937	61	1344											
ADCY2	108	broad.mit.edu	37	chr5	7727300	7727300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccacggcactgccagcGttcaagtattatgtgacttg	12	11	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:7727300G>A	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	ADCY2_ENST00000537121.1_Silent_p.A419A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	599					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACTGCCAGCGTTCAAGTATT	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1795-1797)gcG>gcA		adenylate cyclase 2 (brain)							191	168	176					5																	7727300		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727300G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1797G>A	5.37:g.7727300G>A						RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	p.A599A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			14	1886	+			599					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1797G>A	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		101	273	0	0	0	1	0	101	273					A	7727300	G	A	7727300	2	1	12	1	0	0	0	0	0	0	0	1	294	1132	40	1		1	ADCY2	5	7727300	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		7727300	173187960	62	1345											
DNAH5	1767	broad.mit.edu	37	chr5	13883067	13883067	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttagggacactgatgatGcactccacggctttgttcag	10	12	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:13883067G>T	ENST00000265104.4	-	20	3224	c.3120C>A	c.(3118-3120)tgC>tgA	p.C1040*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1040	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTGATGATGCACTCCACGG	0.532									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3118-3120)tgC>tgA		dynein, axonemal, heavy chain 5							172	151	158					5																	13883067		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883067G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3120C>A	5.37:g.13883067G>T	ENSP00000265104:p.Cys1040*					CTB-51A17.1_ENST00000503244.1_RNA	p.C1040*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			20	3224	-	Lung NSC(4;0.00476)		1040			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.3120C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	40	8.305138	0.98752	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	-0.747	0.11091	.	0.259338	0.45361	D	0.000370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.0446	0.42180	0.7137:0.0:0.2863:0.0	.	.	.	.	X	1040	.	ENSP00000265104:C1040X	C	-	3	2	DNAH5	13936067	0.996000	0.38824	0.398000	0.26321	0.532000	0.34746	0.849000	0.27723	-0.060000	0.13132	-0.252000	0.11476	TGC		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		40	634	1	0	9.14704e-12	1	9.99283e-12	40	634					T	13883067	G	T	13883067	4	4	12	1	0	0	0	0	0	1	0	0	4620	1311	46	3	10994	3	DNAH5	5	13883067	Nonsense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	6155767	13883067	167032193	63	1346											
CDH18	1016	broad.mit.edu	37	chr5	19747253	19747253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgagtggatatcaccCgtggtatcgtcaatgataaa	10	6	2	2	rs370029789		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:19747253C>T	ENST00000507958.1	-	6	1311	c.321G>A	c.(319-321)acG>acA	p.T107T	CDH18_ENST00000502796.1_Silent_p.T107T|CDH18_ENST00000511273.1_Silent_p.T107T|CDH18_ENST00000274170.4_Silent_p.T107T|CDH18_ENST00000382275.1_Silent_p.T107T|CDH18_ENST00000506372.1_Silent_p.T107T			Q13634	CAD18_HUMAN	cadherin 18, type 2	107	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.T107T(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)					GGATATCACCCGTGGTATCGT	0.443																																						ENST00000507958.1																			2	Substitution - coding silent(2)	p.T107T(2)	lung(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						c.(319-321)acG>acA		cadherin 18, type 2		C	,	0,4406		0,0,2203	212	189	197		321,321	-10.5	0.1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH18	NM_001167667.1,NM_004934.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	107/575,107/791	19747253	1,13005	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.chr5:19747253C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.321G>A	5.37:g.19747253C>T						CDH18_ENST00000506372.1_Silent_p.T107T|CDH18_ENST00000382275.1_Silent_p.T107T|CDH18_ENST00000274170.4_Silent_p.T107T|CDH18_ENST00000502796.1_Silent_p.T107T|CDH18_ENST00000511273.1_Silent_p.T107T	p.T107T			Q13634	CAD18_HUMAN			6	1311	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		107			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.321G>A	CCDS3889.1																																																																																				0.443	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		36	496	0	0	0	1	0	36	496					T	19747253	C	T	19747253	2	4	12	1	0	0	0	0	0	0	0	1	3112	639	23	1		1	CDH18	5	19747253	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	5864186	19747253	161168007	64	1347											
PRDM9	56979	broad.mit.edu	37	chr5	23526354	23526354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagaaccaaagccagAgatccatccatgtccctcat	5	14	3	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:23526354A>G	ENST00000296682.3	+	11	1339	c.1157A>G	c.(1156-1158)gAg>gGg	p.E386G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	386					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAAGCCAGAGATCCATCCA	0.428										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1156-1158)gAg>gGg		PR domain containing 9							103	100	101					5																	23526354		2203	4298	6501	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526354A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1157A>G	5.37:g.23526354A>G	ENSP00000296682:p.Glu386Gly	HNSCC(3;0.000094)					p.E386G	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1339	+			386					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1157A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449112	0.26074	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.10668	2.85	3.52	3.52	0.40303	.	0.208400	0.23949	N	0.042978	T	0.12774	0.0310	L	0.38175	1.15	0.09310	N	1	D	0.58620	0.983	P	0.51016	0.656	T	0.08371	-1.0725	10	0.36615	T	0.2	-13.1052	8.9575	0.35827	1.0:0.0:0.0:0.0	.	386	Q9NQV7	PRDM9_HUMAN	G	386;180	ENSP00000296682:E386G	ENSP00000253473:E180G	E	+	2	0	PRDM9	23562111	0.206000	0.23470	0.306000	0.25113	0.167000	0.22549	-0.024000	0.12435	1.520000	0.48965	0.329000	0.21502	GAG		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		37	680	0	0	0	1	0	37	680					G	23526354	A	G	23526354	3	3	12	1	0	0	0	0	1	0	0	0	12510	304	11	4	1195	4	PRDM9	5	23526354	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	3779101	23526354	157388906	65	1348											
CDH10	1008	broad.mit.edu	37	chr5	24593539	24593539	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacattatttctggagAgcagaaatgtggcaggcata	11	6	2	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:24593539A>T	ENST00000264463.4	-	2	568	c.61T>A	c.(61-63)Tct>Act	p.S21T	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	21					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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTCTGGAGAGCAGAAATGT	0.408										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(61-63)Tct>Act		cadherin 10, type 2 (T2-cadherin)							91	84	87					5																	24593539		2203	4298	6501	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593539A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.61T>A	5.37:g.24593539A>T	ENSP00000264463:p.Ser21Thr	HNSCC(23;0.051)				RP11-116O11.1_ENST00000510391.1_RNA	p.S21T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	568	-			21					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.61T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329685	0.24167	.	.	ENSG00000040731	ENST00000264463	T	0.54675	0.56	4.36	4.36	0.52297	.	1.041160	0.07485	N	0.904698	T	0.40015	0.1100	L	0.38531	1.155	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.15952	T	0.53	.	5.6232	0.17469	0.791:0.0:0.209:0.0	.	21	Q9Y6N8	CAD10_HUMAN	T	21	ENSP00000264463:S21T	ENSP00000264463:S21T	S	-	1	0	CDH10	24629296	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	3.533000	0.53561	1.738000	0.51689	0.472000	0.43445	TCT		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		40	591	0	0	0	1	0	40	591					T	24593539	A	T	24593539	3	4	12	1	0	0	0	0	1	0	0	0	3105	304	11	5	2349	5	CDH10	5	24593539	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	1067185	24593539	156321721	66	1349											
AGXT2	64902	broad.mit.edu	37	chr5	35047946	35047946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcaaggatcctgggagCggaagtgaccaggcacaagg	14	10	1	1	rs548090207		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:35047946C>T	ENST00000231420.6	-	1	252	c.52G>A	c.(52-54)Gct>Act	p.A18T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	18					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ATCCTGGGAGCGGAAGTGACC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18200	0.0		0.0	False		,,,				2504	0.0					ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(52-54)Gct>Act		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						70	61	64					5																	35047946		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35047946C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.52G>A	5.37:g.35047946C>T	ENSP00000231420:p.Ala18Thr						p.A18T	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	1	252	-	all_lung(31;4.52e-05)		18					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.52G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	3.132	-0.178126	0.06380	.	.	ENSG00000113492	ENST00000231420	D	0.81579	-1.51	2.93	-4.62	0.03370	.	444.195000	0.00166	N	0.000000	T	0.54935	0.1889	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48536	-0.9027	10	0.13470	T	0.59	.	0.069	0.00020	0.2832:0.1706:0.2251:0.3212	.	18;18	E9PDL7;Q9BYV1	.;AGT2_HUMAN	T	18	ENSP00000231420:A18T	ENSP00000231420:A18T	A	-	1	0	AGXT2	35083703	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.066000	0.03454	-1.013000	0.03383	-0.680000	0.03767	GCT		0.552	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		5	322	0	0	0	1	0	5	322					T	35047946	C	T	35047946	3	4	12	1	0	0	0	0	1	0	0	0	405	768	27	1	1548	1	AGXT2	5	35047946	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	10454407	35047946	145867314	67	1350											
WDR70	55100	broad.mit.edu	37	chr5	37725121	37725121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactggatcccctgaagtcGcataaacctgaacctcctgt	8	13	0	3	rs373785223		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1681-1683)tcG>tcA		WD repeat domain 70		G		1,4405	2.1+/-5.4	0,1,2202	114	111	112		1683	-7.6	0.7	5		112	0,8600		0,0,4300	no	coding-synonymous	WDR70	NM_018034.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/655	37725121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37725121G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1683G>A	5.37:g.37725121G>A							p.S561S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1839	+	all_lung(31;0.000285)		561					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1683G>A	CCDS34147.1																																																																																				0.527	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		7	676	0	0	0	1	0	7	676					A	37725121	G	A	37725121	2	1	12	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WDR70	5	37725121	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	2677175	37725121	143190139	68	1351											
NNT	23530	broad.mit.edu	37	chr5	43624207	43624207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgatgggtgcaattgttcGaggatttgacacaaggtgag	15	5	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:43624207G>A	ENST00000264663.5	+	6	982	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	NNT_ENST00000512996.2_Missense_Mutation_p.R123Q|NNT_ENST00000344920.4_Missense_Mutation_p.R254Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	254					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCAATTGTTCGAGGATTTGAC	0.418																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(760-762)cGa>cAa		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						308	282	291					5																	43624207		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43624207G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.761G>A	5.37:g.43624207G>A	ENSP00000264663:p.Arg254Gln					NNT_ENST00000512996.2_Missense_Mutation_p.R123Q|NNT_ENST00000344920.4_Missense_Mutation_p.R254Q	p.R254Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			6	982	+	Lung NSC(6;2.58e-06)		254					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.761G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558653	0.86231	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.82433	-1.61;-1.61;-1.61	5.78	4.91	0.64330	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.92026	3.265	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.94117	0.7376	10	0.87932	D	0	-3.6347	14.6884	0.69065	0.0695:0.0:0.9305:0.0	.	254	Q13423	NNTM_HUMAN	Q	254;254;123	ENSP00000264663:R254Q;ENSP00000343873:R254Q;ENSP00000426343:R123Q	ENSP00000264663:R254Q	R	+	2	0	NNT	43659964	1.000000	0.71417	0.988000	0.46212	0.547000	0.35210	9.297000	0.96120	1.448000	0.47680	0.561000	0.74099	CGA		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		89	2205	0	0	0	1	0	89	2205					A	43624207	G	A	43624207	3	1	12	1	0	0	0	0	1	0	0	0	10552	1058	37	1	779	1	NNT	5	43624207	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	5899086	43624207	137291053	69	1352											
THBS4	7060	broad.mit.edu	37	chr5	79351673	79351673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaacaacctgcagctgGcagacggaaggcggcacagg	13	11	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:79351673G>A	ENST00000350881.2	+	3	548	c.358G>A	c.(358-360)Gca>Aca	p.A120T	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A29T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	120	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCTGCAGCTGGCAGACGGAAG	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(358-360)Gca>Aca		thrombospondin 4							147	152	151					5																	79351673		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79351673G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.358G>A	5.37:g.79351673G>A	ENSP00000339730:p.Ala120Thr					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A29T	p.A120T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	3	548	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	120			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.358G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348613	0.61183	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.02301	4.35;4.35	5.84	4.96	0.65561	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04452	0.0122	L	0.61387	1.9	0.51767	D	0.999932	B	0.20887	0.049	B	0.16289	0.015	T	0.29088	-1.0023	10	0.48119	T	0.1	-16.1125	16.0811	0.81005	0.0:0.0:0.8649:0.1351	.	120	P35443	TSP4_HUMAN	T	120;29	ENSP00000339730:A120T;ENSP00000422298:A29T	ENSP00000339730:A120T	A	+	1	0	THBS4	79387429	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	5.520000	0.67080	1.457000	0.47850	0.591000	0.81541	GCA		0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	546	0	0	0	1	0	5	546					A	79351673	G	A	79351673	3	1	12	1	0	0	0	0	1	0	0	0	15908	1203	42	2	368	2	THBS4	5	79351673	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	35727466	79351673	101563587	70	1353											
FAM13B	51306	broad.mit.edu	37	chr5	137289964	137289964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgataatactggaggacagtCctcttccaaggggtgatgat	12	7	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:137289964C>T	ENST00000033079.3	-	14	1994	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	FAM13B_ENST00000420893.2_Missense_Mutation_p.D515N|FAM13B_ENST00000425075.2_Missense_Mutation_p.D419N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	515					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGAGGACAGTCCTCTTCCAAG	0.468																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1543-1545)Gac>Aac		family with sequence similarity 13, member B							103	101	102					5																	137289964		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137289964C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1543G>A	5.37:g.137289964C>T	ENSP00000033079:p.Asp515Asn					FAM13B_ENST00000420893.2_Missense_Mutation_p.D515N|FAM13B_ENST00000425075.2_Missense_Mutation_p.D419N	p.D515N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			14	1994	-			515					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1543G>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263752	0.95399	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95447	-3.71;1.1;-3.71	5.49	5.49	0.81192	.	0.103535	0.64402	D	0.000004	D	0.97498	0.9181	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.71674	0.996;0.998;0.992	D;D;P	0.65573	0.936;0.917;0.864	D	0.98063	1.0394	10	0.87932	D	0	-10.3651	18.3606	0.90372	0.0:1.0:0.0:0.0	.	419;515;515	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	N	515;419;515	ENSP00000033079:D515N;ENSP00000394669:D419N;ENSP00000388521:D515N	ENSP00000033079:D515N	D	-	1	0	FAM13B	137317863	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.787000	0.75099	2.576000	0.86940	0.585000	0.79938	GAC		0.468	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			39	281	0	0	0	1	0	39	281					T	137289964	C	T	137289964	3	4	12	1	0	0	0	0	1	0	0	0	5474	855	30	2	1244	2	FAM13B	5	137289964	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	57938291	137289964	43625296	71	1354											
CDC23	8697	broad.mit.edu	37	chr5	137524808	137524808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgaagctgtaggatttgCcggagtaaggccttaccttc	11	10	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:137524808C>T	ENST00000394886.2	-	16	1683	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	551					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTAGGATTTGCCGGAGTAAGG	0.488																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1651-1653)cgG>cgA		cell division cycle 23							193	174	181					5																	137524808		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524808C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1653G>A	5.37:g.137524808C>T							p.R551R	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1683	-			551					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.1653G>A	CCDS4200.2																																																																																				0.488	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			5	333	0	0	0	1	0	5	333					T	137524808	C	T	137524808	2	4	12	1	0	0	0	0	0	0	0	1	3070	726	26	2		2	CDC23	5	137524808	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	234844	137524808	43390452	72	1355											
PCDHA3	56145	broad.mit.edu	37	chr5	140182606	140182606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacaacgcgtggctttcGtatgagctgcagcctgggac	14	11	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:140182606G>A	ENST00000522353.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S608S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	608	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.S608S(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.677																																						ENST00000522353.2																			2	Substitution - coding silent(2)	p.S608S(2)	prostate(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1822-1824)tcG>tcA									96	93	94					5																	140182606		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140182606G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1824G>A	5.37:g.140182606G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S608S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.S608S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1824	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1824G>A	CCDS54915.1																																																																																				0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		128	283	0	0	0	1	0	128	283					A	140182606	G	A	140182606	2	1	12	1	0	0	0	0	0	0	0	1	11567	1132	40	1		1	PCDHA3	5	140182606	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	2657798	140182606	40732654	73	1356											
TIGD6	81789	broad.mit.edu	37	chr5	149375208	149375208	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttcttgaggcagtgtGggctggctgacctaccaaca	13	9	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:149375208G>C	ENST00000296736.3	-	2	1478	c.704C>G	c.(703-705)cCa>cGa	p.P235R	TIGD6_ENST00000515406.2_Missense_Mutation_p.P235R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	235	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGGCAGTGTGGGCTGGCTGA	0.502																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(703-705)cCa>cGa		tigger transposable element derived 6							88	78	81					5																	149375208		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375208G>C	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.704C>G	5.37:g.149375208G>C	ENSP00000296736:p.Pro235Arg					TIGD6_ENST00000515406.2_Missense_Mutation_p.P235R	p.P235R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1478	-			235			DDE.		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.704C>G	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794523	0.31777	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.51325	0.71;0.71	4.62	2.77	0.32553	.	0.000000	0.33591	U	0.004750	T	0.64450	0.2599	M	0.79614	2.46	0.27853	N	0.940684	D	0.89917	1.0	D	0.97110	1.0	T	0.57376	-0.7822	10	0.87932	D	0	.	7.6938	0.28583	0.0935:0.1671:0.7394:0.0	.	235	Q17RP2	TIGD6_HUMAN	R	235	ENSP00000296736:P235R;ENSP00000425318:P235R	ENSP00000296736:P235R	P	-	2	0	TIGD6	149355401	0.998000	0.40836	0.648000	0.29521	0.286000	0.27126	3.658000	0.54482	0.631000	0.30412	0.563000	0.77884	CCA		0.502	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		46	212	0	0	0	1	0	46	212					C	149375208	G	C	149375208	3	2	12	1	0	0	0	0	1	0	0	0	15952	1348	47	5	865	5	TIGD6	5	149375208	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	9192602	149375208	31540052	74	1357											
DRD1	1812	broad.mit.edu	37	chr5	174869606	174869606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggcttgtgggttttGccttgtgccagctgagctgc	16	9	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:174869606G>T	ENST00000393752.2	-	2	1489	c.497C>A	c.(496-498)gCa>gAa	p.A166E		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	166					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGGGTTTTGCCTTGTGCCA	0.532																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(496-498)gCa>gAa		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						145	139	141					5																	174869606		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869606G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.497C>A	5.37:g.174869606G>T	ENSP00000377353:p.Ala166Glu						p.A166E	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1489	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	166					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.497C>A	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732071	0.48939	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.71461	-0.57	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	L	0.52823	1.66	0.80722	D	1	D	0.55172	0.97	P	0.59825	0.864	T	0.75639	-0.3248	10	0.33141	T	0.24	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	166	P21728	DRD1_HUMAN	E	166	ENSP00000377353:A166E	ENSP00000327652:A166E	A	-	2	0	DRD1	174802212	1.000000	0.71417	0.967000	0.41034	0.796000	0.44982	9.675000	0.98638	2.768000	0.95171	0.650000	0.86243	GCA		0.532	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		30	237	1	0	6.00712e-18	1	6.65372e-18	30	237					T	174869606	G	T	174869606	3	4	12	1	0	0	0	0	1	0	0	0	4772	1319	46	3	847	3	DRD1	5	174869606	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	25494398	174869606	6045654	75	1358											
RNF44	22838	broad.mit.edu	37	chr5	175956566	175956566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccgggttaaagcggtacGacgggagctgctctatgtct	14	9	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:175956566G>A	ENST00000274811.4	-	9	1618	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RNF44_ENST00000509404.1_5'Flank|RNF44_ENST00000537487.1_Missense_Mutation_p.S284L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	365							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGCGGTACGACGGGAGCTG	0.662																																						ENST00000274811.4																			0				endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(1093-1095)tCg>tTg		ring finger protein 44							93	87	89					5																	175956566		2203	4300	6503	SO:0001583	missense	22838						zinc ion binding	g.chr5:175956566G>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"RING-type (C3HC4) zinc fingers"	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1094C>T	5.37:g.175956566G>A	ENSP00000274811:p.Ser365Leu					RNF44_ENST00000537487.1_Missense_Mutation_p.S284L	p.S365L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1618	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	365					B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.1094C>T	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180129	0.78564	.	.	ENSG00000146083	ENST00000274811;ENST00000537487	T;T	0.66638	-0.22;-0.22	5.07	5.07	0.68467	.	0.059437	0.64402	D	0.000001	T	0.67344	0.2883	M	0.65498	2.005	0.53005	D	0.999967	D;B	0.57571	0.98;0.37	B;B	0.41988	0.372;0.125	T	0.74100	-0.3774	10	0.59425	D	0.04	-20.0535	18.2435	0.89977	0.0:0.0:1.0:0.0	.	54;365	Q6ZS76;Q7L0R7	.;RNF44_HUMAN	L	365;284	ENSP00000274811:S365L;ENSP00000440352:S284L	ENSP00000274811:S365L	S	-	2	0	RNF44	175889172	1.000000	0.71417	0.028000	0.17463	0.386000	0.30323	8.977000	0.93446	2.642000	0.89623	0.549000	0.68633	TCG		0.662	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			30	230	0	0	0	1	0	30	230					A	175956566	G	A	175956566	3	1	12	1	0	0	0	0	1	0	0	0	13546	1059	37	1	216	1	RNF44	5	175956566	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	1086960	175956566	4958694	76	1359											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297387	179297387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctggcaaagagttcccGgaactggctggcatcaatcc	12	12	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:179297387G>A	ENST00000356834.3	-	16	2630	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R865W|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R41W|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R23W	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	865						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGTTCCCGGAACTGGCTG	0.647																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2593-2595)Cgg>Tgg		TBC1 domain family, member 9B (with GRAM domain)							86	84	85					5																	179297387		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297387G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2593C>T	5.37:g.179297387G>A	ENSP00000349291:p.Arg865Trp					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R23W|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R41W|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R865W	p.R865W	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2630	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	865					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2593C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976237	0.34848	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.93	3.05	0.35203	EF-hand-like domain (1);	0.848033	0.10554	N	0.661105	T	0.66528	0.2798	M	0.67397	2.05	0.25225	N	0.989871	D;P;D;D;D;D	0.89917	1.0;0.951;0.986;0.992;0.986;0.971	D;B;P;P;P;B	0.71184	0.972;0.329;0.453;0.655;0.453;0.426	T	0.57051	-0.7877	10	0.87932	D	0	-5.8709	13.6516	0.62314	0.0:0.0:0.5677:0.4323	.	41;209;865;865;865;81	B4E3K0;B3KQE0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;.;TBC9B_HUMAN;.	W	865;865;41;23	ENSP00000349291:R865W;ENSP00000347375:R865W;ENSP00000430293:R41W;ENSP00000401585:R23W	ENSP00000347375:R865W	R	-	1	2	TBC1D9B	179229993	0.680000	0.27605	0.765000	0.31456	0.013000	0.08279	0.722000	0.25925	1.060000	0.40578	-0.320000	0.08662	CGG		0.647	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		152	258	0	0	0	1	0	152	258					A	179297387	G	A	179297387	3	1	12	1	0	0	0	0	1	0	0	0	15680	1115	39	1	1187	1	TBC1D9B	5	179297387	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	3340821	179297387	1617873	77	1360											
FLT4	2324	broad.mit.edu	37	chr5	180043443	180043443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatcttcaccacgtcgCtttccgacagcagaatgttc	7	14	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:180043443C>T	ENST00000261937.6	-	23	3221	c.3143G>A	c.(3142-3144)aGc>aAc	p.S1048N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1048N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1048N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1048	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCACGTCGCTTTCCGACAG	0.612																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3142-3144)aGc>aAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						121	111	115					5																	180043443		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043443C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3143G>A	5.37:g.180043443C>T	ENSP00000261937:p.Ser1048Asn					FLT4_ENST00000502649.1_Missense_Mutation_p.S1048N|FLT4_ENST00000393347.3_Missense_Mutation_p.S1048N	p.S1048N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3221	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1048			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3143G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	2.878	-0.232462	0.05983	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	3.73	2.85	0.33270	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.67534	0.2903	N	0.04018	-0.295	0.41499	D	0.988272	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.63283	-0.6672	9	0.02654	T	1	.	3.5762	0.07936	0.0:0.6176:0.0:0.3824	.	1048;1048	E9PD35;P35916	.;VGFR3_HUMAN	N	1048;1048;1048;86	ENSP00000261937:S1048N;ENSP00000377016:S1048N;ENSP00000426057:S1048N;ENSP00000421535:S86N	ENSP00000261937:S1048N	S	-	2	0	FLT4	179976049	1.000000	0.71417	0.817000	0.32601	0.883000	0.51084	3.240000	0.51368	2.107000	0.64212	0.491000	0.48974	AGC		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			8	294	0	0	0	1	0	8	294					T	180043443	C	T	180043443	3	4	12	1	0	0	0	0	1	0	0	0	5969	797	28	2	988	2	FLT4	5	180043443	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	746056	180043443	871817	78	1361											
OR2V2	285659	broad.mit.edu	37	chr5	180581955	180581955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgagccatggagacgtggGtgaaccagtcctacacagat	12	11	0	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:180581955G>T	ENST00000328275.1	+	1	13	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGTGGGTGAACCAGTC	0.493																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(13-15)Gtg>Ttg		olfactory receptor, family 2, subfamily V, member 2							207	166	180					5																	180581955		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180581955G>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.13G>T	5.37:g.180581955G>T	ENSP00000332185:p.Val5Leu						p.V5L	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	13	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	5					Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.13G>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.247429	0.01469	.	.	ENSG00000182613	ENST00000328275	T	0.00304	8.19	3.38	-0.786	0.10946	.	2.338580	0.02173	N	0.059831	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	10	0.29301	T	0.29	.	4.2992	0.10916	0.0:0.132:0.4568:0.4113	.	5	Q96R30	OR2V2_HUMAN	L	5	ENSP00000332185:V5L	ENSP00000332185:V5L	V	+	1	0	OR2V2	180514561	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	-0.952000	0.03881	0.080000	0.16959	0.305000	0.20034	GTG		0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			11	365	1	0	1.08611e-07	1	1.15876e-07	11	365					T	180581955	G	T	180581955	3	4	12	1	0	0	0	0	1	0	0	0	11073	1261	44	3	15	3	OR2V2	5	180581955	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	538512	180581955	333305	79	1362											
HIVEP1	3096	broad.mit.edu	37	chr6	12124753	12124753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccatcttgctcttcTaatcctgtgcattctttgcc	6	14	5	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:12124753T>C	ENST00000379388.2	+	4	5057	c.4725T>C	c.(4723-4725)tcT>tcC	p.S1575S	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1575					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCTCTTCTAATCCTGTGC	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4723-4725)tcT>tcC		human immunodeficiency virus type I enhancer binding protein 1							142	137	139					6																	12124753		1934	4125	6059	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124753T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4725T>C	6.37:g.12124753T>C							p.S1575S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5057	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1575					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4725T>C	CCDS43426.1																																																																																				0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		31	483	0	0	0	1	0	31	483					C	12124753	T	C	12124753	2	2	12	1	0	0	0	0	0	0	0	1	7216	1509	53	4		4	HIVEP1	6	12124753	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08		12124753	158990314	80	1363											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045691	26045691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccggcggcaaagctccgcGcaagcagcttgctactaaag	11	13	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26045691G>A	ENST00000540144.1	+	1	53	c.53G>A	c.(52-54)cGc>cAc	p.R18H	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AAAGCTCCGCGCAAGCAGCTT	0.587																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(52-54)cGc>cAc		histone cluster 1, H3c							39	43	42					6																	26045691		2202	4300	6502	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045691G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.53G>A	6.37:g.26045691G>A	ENSP00000439493:p.Arg18His						p.R18H	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	53	+			18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.53G>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709363	0.30322	.	.	ENSG00000196532	ENST00000540144	T	0.49720	0.77	4.67	4.67	0.58626	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.41794	D	0.989887	.	.	.	.	.	.	T	0.65372	-0.6184	6	0.87932	D	0	.	17.4292	0.87534	0.0:0.0:1.0:0.0	.	.	.	.	H	18	ENSP00000439493:R18H	ENSP00000439493:R18H	R	+	2	0	HIST1H3C	26153670	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	9.429000	0.97481	2.529000	0.85273	0.591000	0.81541	CGC		0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		5	366	0	0	0	1	0	5	366					A	26045691	G	A	26045691	3	1	12	1	0	0	0	0	1	0	0	0	7187	1087	38	1	55	1	HIST1H3C	6	26045691	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	13920938	26045691	145069376	81	1364											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104209	26104209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggcggaaaaggcttgGggaagggtggtgctaagcgc	19	6	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26104209G>C	ENST00000377803.2	+	1	106	c.34G>C	c.(34-36)Ggg>Cgg	p.G12R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	12					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAAAGGCTTGGGGAAGGGTGG	0.532																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(34-36)Ggg>Cgg		histone cluster 1, H4c							59	60	60					6																	26104209		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104209G>C	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.34G>C	6.37:g.26104209G>C	ENSP00000367034:p.Gly12Arg						p.G12R	NM_003542.3	NP_003533.1	P62805	H4_HUMAN			1	106	+			12					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.34G>C	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	19.50	3.839620	0.71488	.	.	ENSG00000197061	ENST00000377803	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72459	-0.4287	6	0.56958	D	0.05	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	.	.	.	R	12	.	ENSP00000367034:G12R	G	+	1	0	HIST1H4C	26212188	1.000000	0.71417	0.104000	0.21259	0.029000	0.11900	9.645000	0.98471	2.538000	0.85594	0.561000	0.74099	GGG		0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		6	315	0	0	0	1	0	6	315					C	26104209	G	C	26104209	3	2	12	1	0	0	0	0	1	0	0	0	7197	1232	43	5	36	5	HIST1H4C	6	26104209	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	58518	26104209	145010858	82	1365											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			8	394						8	394	---	---	---	---	-	29573438	CAG	-	29573436	7	5	12	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-2J-AABP-01A-11D-A40W-08	3469227	29573436	141541631	83	1366											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		12	277						12	277	---	---	---	---	-	30653496	TGC	-	30653494	7	5	12	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-2J-AABP-01A-11D-A40W-08	1080058	30653494	140461573	84	1367											
SLC44A4	80736	broad.mit.edu	37	chr6	31842799	31842799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtacaggagatacggCttatctctgtgggaggggag	16	5	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:31842799C>T	ENST00000229729.6	-	5	269	c.249G>A	c.(247-249)aaG>aaA	p.K83K	SLC44A4_ENST00000544672.1_Silent_p.K7K|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.K83K	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	83					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGATACGGCTTATCTCTGT	0.572																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(19-21)aaG>aaA		solute carrier family 44, member 4	Choline(DB00122)						110	110	110					6																	31842799		1510	2709	4219	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842799C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.249G>A	6.37:g.31842799C>T						SLC44A4_ENST00000229729.6_Silent_p.K83K|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.K83K	p.K7K	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			5	317	-			83					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.21G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229929	0.06022	.	.	ENSG00000204385	ENST00000414427	.	.	.	5.2	-0.0359	0.13891	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	-5.0277	7.4362	0.27156	0.0:0.4169:0.0:0.5831	.	.	.	.	N	79	.	.	S	-	2	0	SLC44A4	31950778	0.543000	0.26434	0.997000	0.53966	0.310000	0.27922	-0.641000	0.05434	0.088000	0.17205	-0.768000	0.03414	AGC		0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			107	285	0	0	0	1	0	107	285					T	31842799	C	T	31842799	2	4	12	1	0	0	0	0	0	0	0	1	14688	796	28	2		2	SLC44A4	6	31842799	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1189305	31842799	139272268	85	1368											
GRM4	2914	broad.mit.edu	37	chr6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgccctgctcgaagatgCggtagatgcggttggtcttg	15	9	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	679					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCGAAGATGCGGTAGATGCG	0.627																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)cGc>cAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135	138	137					6																	34003851		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003851C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2036G>A	6.37:g.34003851C>T	ENSP00000440556:p.Arg679His					GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000544773.1_Missense_Mutation_p.R510H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000538487.1_Missense_Mutation_p.R679H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000545715.1_Missense_Mutation_p.R371H	p.R679H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2205	-			679					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2036G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725414	0.89298	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.993;0.996;0.999;0.999	D	0.96098	0.9067	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	632;510;539;679;546	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	679;563;371;546;510;679;539	ENSP00000363296:R679H;ENSP00000363292:R563H;ENSP00000445533:R371H;ENSP00000437925:R546H;ENSP00000437730:R510H;ENSP00000440556:R679H;ENSP00000398456:R539H	ENSP00000363292:R563H	R	-	2	0	GRM4	34111829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	CGC		0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			5	403	0	0	0	1	0	5	403					T	34003851	C	T	34003851	3	4	12	1	0	0	0	0	1	0	0	0	6829	768	27	1	714	1	GRM4	6	34003851	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2161052	34003851	137111216	86	1369											
TINAG	27283	broad.mit.edu	37	chr6	54254644	54254644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggctatttcaggattcTtcgaggagtaaatgagtccg	12	6	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:54254644T>G	ENST00000259782.4	+	11	1448	c.1352T>G	c.(1351-1353)cTt>cGt	p.L451R		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	451					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCAGGATTCTTCGAGGAGTA	0.393																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1351-1353)cTt>cGt		tubulointerstitial nephritis antigen							135	133	134					6																	54254644		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254644T>G	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1352T>G	6.37:g.54254644T>G	ENSP00000259782:p.Leu451Arg						p.L451R	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1448	+	Lung NSC(77;0.0518)		451					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1352T>G	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710540	0.68730	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84370	-1.84	5.89	5.89	0.94794	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000019	D	0.84826	0.5558	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86553	0.1836	10	0.49607	T	0.09	.	12.683	0.56932	0.0:0.0:0.0:1.0	.	451	Q9UJW2	TINAG_HUMAN	R	310;451;130	ENSP00000259782:L451R	ENSP00000259782:L451R	L	+	2	0	TINAG	54362603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.851000	0.39338	2.251000	0.74343	0.482000	0.46254	CTT		0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		50	506	0	0	0	1	0	50	506					G	54254644	T	G	54254644	3	3	12	1	0	0	0	0	1	0	0	0	15973	1609	56	4	1394	4	TINAG	6	54254644	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	20250793	54254644	116860423	87	1370											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	524						9	524	---	---	---	---	-	88144700	A	-	88144700	7	5	12	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-2J-AABP-01A-11D-A40W-08	33890056	88144700	82970367	88	1371											
FIG4	9896	broad.mit.edu	37	chr6	110146342	110146342	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctatgaagttcagcccccAagagtagacagaaaatctac	7	10	3	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:110146342A>C	ENST00000230124.3	+	23	2722	c.2598A>C	c.(2596-2598)ccA>ccC	p.P866P	FIG4_ENST00000441478.2_Silent_p.P560P|RP1-249I4.2_ENST00000458693.1_lincRNA	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	866					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCAGCCCCCAAGAGTAGACA	0.448																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2596-2598)ccA>ccC		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							126	120	122					6																	110146342		2203	4300	6503	SO:0001819	synonymous_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110146342A>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2598A>C	6.37:g.110146342A>C						FIG4_ENST00000441478.2_Silent_p.P560P	p.P866P	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	23	2722	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	866					Q53H49|Q5TCS6	Silent	SNP	ENST00000230124.3	37	c.2598A>C	CCDS5078.1																																																																																				0.448	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		64	563	0	0	0	1	0	64	563					C	110146342	A	C	110146342	2	2	12	1	0	0	0	0	0	0	0	1	5913	117	5	4		4	FIG4	6	110146342	Silent	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	22001642	110146342	60968725	89	1372											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	407						8	407	---	---	---	---	-	137815212	TGG	-	137815210	7	5	12	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-2J-AABP-01A-11D-A40W-08	27668868	137815210	33299857	90	1373											
NMBR	4829	broad.mit.edu	37	chr6	142399897	142399897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctgctattatccaagCtactgatgcgagccacttct	8	11	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:142399897C>T	ENST00000258042.1	-	2	706	c.566G>A	c.(565-567)aGc>aAc	p.S189N	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	189					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ATTATCCAAGCTACTGATGCG	0.483																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(565-567)aGc>aAc		neuromedin B receptor							138	132	134					6																	142399897		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399897C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.566G>A	6.37:g.142399897C>T	ENSP00000258042:p.Ser189Asn						p.S189N	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	706	-	Breast(32;0.155)		189					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.566G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	1.970	-0.436761	0.04636	.	.	ENSG00000135577	ENST00000258042	T	0.71817	-0.6	5.48	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.714476	0.15197	N	0.275225	T	0.22166	0.0534	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.15122	-1.0448	10	0.17832	T	0.49	-4.402	5.304	0.15793	0.0:0.6117:0.0:0.3883	.	189	P28336	NMBR_HUMAN	N	189	ENSP00000258042:S189N	ENSP00000258042:S189N	S	-	2	0	NMBR	142441590	0.001000	0.12720	0.092000	0.20876	0.167000	0.22549	0.154000	0.16343	1.320000	0.45209	0.585000	0.79938	AGC		0.483	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			13	498	0	0	0	1	0	13	498					T	142399897	C	T	142399897	3	4	12	1	0	0	0	0	1	0	0	0	10529	797	28	2	614	2	NMBR	6	142399897	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4584687	142399897	28715170	91	1374											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-													ttataataataatagtaaggAtcatcatcatcatcagaggt					rs561556028		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.36	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	430						9	430	---	---	---	---	-	146264836	ATC	-	146264834	7	5	12	1	0	1	0	1	0	0	0	0	14341	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Del	DEL	ATC	TCGA-2J-AABP-01A-11D-A40W-08	3864937	146264834	24850233	92	1375											
PLEKHG1	57480	broad.mit.edu	37	chr6	151121990	151121990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcggattctcaagtaTcatctccttctgcatgtaag	8	10	5	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:151121990T>C	ENST00000358517.2	+	6	976	c.765T>C	c.(763-765)taT>taC	p.Y255Y	PLEKHG1_ENST00000367328.1_Silent_p.Y255Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		TTCTCAAGTATCATCTCCTTC	0.448																																						ENST00000367328.1																			0				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						c.(763-765)taT>taC		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							106	102	103					6																	151121990		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121990T>C	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.765T>C	6.37:g.151121990T>C						PLEKHG1_ENST00000358517.2_Silent_p.Y255Y	p.Y255Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	1077	+			255			DH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.765T>C	CCDS34552.1																																																																																				0.448	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			9	316	0	0	0	1	0	9	316					C	151121990	T	C	151121990	2	2	12	1	0	0	0	0	0	0	0	1	12110	1442	50	4		4	PLEKHG1	6	151121990	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	4857156	151121990	19993077	93	1376											
C6orf97	80129	broad.mit.edu	37	chr6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcggaagtcccggtcaCgcgggagcagttaaaccact	11	12	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:151857487C>T	ENST00000239374.7	+	2	191	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000367290.5_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.T31M(1)	large_intestine(1)								c.(91-93)aCg>aTg		coiled-coil domain containing 170							104	97	99					6																	151857487		1854	4094	5948	SO:0001583	missense	80129							g.chr6:151857487C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.92C>T	6.37:g.151857487C>T	ENSP00000239374:p.Thr31Met					CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	p.T31M			Q8IYT3	CF097_HUMAN			2	181	+			31					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.92C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086199	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11821	2.75;2.74	5.95	3.17	0.36434	.	0.491298	0.22181	N	0.063519	T	0.16257	0.0391	M	0.73962	2.25	0.26952	N	0.966002	D	0.71674	0.998	P	0.59288	0.855	T	0.05451	-1.0884	10	0.87932	D	0	-1.2721	9.129	0.36833	0.0:0.7463:0.1219:0.1318	.	31	Q8IYT3	CF097_HUMAN	M	31	ENSP00000239374:T31M;ENSP00000356259:T31M	ENSP00000239374:T31M	T	+	2	0	C6orf97	151899180	0.675000	0.27558	0.047000	0.18901	0.001000	0.01503	1.302000	0.33459	0.389000	0.25086	-0.157000	0.13467	ACG		0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		47	331	0	0	0	1	0	47	331					T	151857487	C	T	151857487	3	4	12	1	0	0	0	0	1	0	0	0	2381	536	19	1	98	1	C6orf97	6	151857487	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	735497	151857487	19257580	94	1377											
LPA	4018	broad.mit.edu	37	chr6	161027656	161027656	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaataaggggctgccacagGatctggattcctgcagtagt	12	9	1	0	rs373258692		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:161027656G>C	ENST00000316300.5	-	17	2682	c.2638C>G	c.(2638-2640)Cct>Gct	p.P880A	LPA_ENST00000447678.1_Missense_Mutation_p.P880A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTGCCACAGGATCTGGATTC	0.542																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2638-2640)Cct>Gct		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)	G	ALA/PRO	1,4219		0,1,2109	125	130	128		2638	0	0	6	dbSNP_134	128	0,8550		0,0,4275	yes	missense	LPA	NM_005577.2	27	0,1,6384	CC,CG,GG		0.0,0.0237,0.0078	benign	880/2041	161027656	1,12769	2110	4275	6385	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027656G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2638C>G	6.37:g.161027656G>C	ENSP00000321334:p.Pro880Ala					LPA_ENST00000316300.5_Missense_Mutation_p.P880A	p.P880A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2758	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3388			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2638C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0.167	-1.075128	0.01903	2.37E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61627	0.09;0.09	2.18	0.0444	0.14225	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.21267	0.0512	N	0.01438	-0.865	0.09310	N	1	D	0.59357	0.985	D	0.73708	0.981	T	0.13469	-1.0508	9	0.19590	T	0.45	.	3.6504	0.08201	0.0:0.5608:0.2644:0.1748	.	3388	P08519	APOA_HUMAN	A	880	ENSP00000321334:P880A;ENSP00000395608:P880A	ENSP00000321334:P880A	P	-	1	0	LPA	160947646	0.035000	0.19736	0.029000	0.17559	0.483000	0.33249	0.096000	0.15147	-0.173000	0.10761	0.184000	0.17185	CCT		0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		8	817	0	0	0	1	0	8	817					C	161027656	G	C	161027656	3	2	12	1	0	0	0	0	1	0	0	0	8941	1174	41	5	3576	5	LPA	6	161027656	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	9170169	161027656	10087411	95	1378											
DGKB	1607	broad.mit.edu	37	chr7	14620499	14620499	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttacctcctccccatcGcaggcatcttgctagatcat	6	15	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:14620499G>A	ENST00000403951.2	-	19	2019	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	534	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			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						CCTCCCCATCGCAGGCATCTT	0.428																																						ENST00000403951.2																			0				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						c.(1600-1602)Cga>Tga		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						81	76	78					7																	14620499		1957	4172	6129	SO:0001587	stop_gained	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.chr7:14620499G>A	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.1600C>T	7.37:g.14620499G>A	ENSP00000385780:p.Arg534*					DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*	p.R534*			Q9Y6T7	DGKB_HUMAN			19	2019	-			534			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	c.1600C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162631	0.98107	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4202	0.49976	0.0:0.0:0.6084:0.3916	.	.	.	.	X	534;534;534;533;526;515;534	.	ENSP00000258767:R534X	R	-	1	2	DGKB	14587024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	2.718000	0.92993	0.591000	0.81541	CGA		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		81	492	0	0	0	1	0	81	492					A	14620499	G	A	14620499	4	1	12	1	0	0	0	0	0	1	0	0	4482	1095	38	1	861	1	DGKB	7	14620499	Nonsense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		14620499	144518164	96	1379											
OSBPL3	26031	broad.mit.edu	37	chr7	24904971	24904971	+	Frame_Shift_Del	DEL	T	T	-													gtcactctacctttggagcaTttttccatgtcctctgaaga							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:24904971delT	ENST00000313367.2	-	7	1114	c.663delA	c.(661-663)aaafs	p.K221fs	OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K221fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	221					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTTGGAGCATTTTTCCATGT	0.393																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(661-663)aafs		oxysterol binding protein-like 3							262	242	249					7																	24904971		2203	4300	6503	SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24904971delT	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.663delA	7.37:g.24904971delT	ENSP00000315410:p.Lys221fs					OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K221fs	p.K221fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			7	1114	-			221					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.663delA	CCDS5390.1																																																																																				0.393	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			9	2087						9	2087	---	---	---	---	-	24904971	T	-	24904971	7	5	12	1	0	1	0	1	0	0	0	0	11321	1490	52	0	2068	0	OSBPL3	7	24904971	Frame_Shift_Del	DEL	T	TCGA-2J-AABP-01A-11D-A40W-08	10284472	24904971	134233692	97	1380											
SNX10	29887	broad.mit.edu	37	chr7	26400616	26400616	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttgtaagtgtctgggttCgagatcctaggattcagaag	12	5	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:26400616C>T	ENST00000338523.4	+	3	233	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SNX10_ENST00000396376.1_Nonsense_Mutation_p.R16*|SNX10_ENST00000446848.2_Nonsense_Mutation_p.R42*|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	16	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.		R -> L (in OPTB8). {ECO:0000269|PubMed:23280965}.		cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TGTCTGGGTTCGAGATCCTAG	0.368																																						ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(46-48)Cga>Tga		sorting nexin 10							156	146	149					7																	26400616		2203	4300	6503	SO:0001587	stop_gained	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26400616C>T	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.46C>T	7.37:g.26400616C>T	ENSP00000343709:p.Arg16*					SNX10_ENST00000409367.1_5'UTR|SNX10_ENST00000396376.1_Nonsense_Mutation_p.R16*|SNX10_ENST00000446848.2_Nonsense_Mutation_p.R42*	p.R16*	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			3	233	+			16			PX.		E9PFH5|Q8IYT5	Nonsense_Mutation	SNP	ENST00000338523.4	37	c.46C>T	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656872	0.96724	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000412416;ENST00000446848;ENST00000396376	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	.	.	.	X	42;16;42;42;16	.	ENSP00000343709:R16X	R	+	1	2	SNX10	26367141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.993000	0.76245	2.459000	0.83118	0.655000	0.94253	CGA		0.368	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			133	357	0	0	0	1	0	133	357					T	26400616	C	T	26400616	4	4	12	1	0	0	0	0	0	1	0	0	14931	876	31	1	52	1	SNX10	7	26400616	Nonsense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1495645	26400616	132738047	98	1381											
HOXA10	3206	broad.mit.edu	37	chr7	27213854	27213854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaaaaagagttcgcggcGgggctctccgagcatgacat	12	11	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:27213854G>A	ENST00000283921.4	-	1	71	c.72C>T	c.(70-72)ccC>ccT	p.P24P	HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	24					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						AGTTCGCGGCGGGGCTCTCCG	0.592																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(70-72)ccC>ccT		homeobox A10							55	61	59					7																	27213854		1128	2560	3688	SO:0001819	synonymous_variant	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213854G>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.72C>T	7.37:g.27213854G>A						RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	p.P24P	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN			1	71	-			24					O43370|O43605|Q15949|Q504T1	Silent	SNP	ENST00000283921.4	37	c.72C>T	CCDS5410.2																																																																																				0.592	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			136	233	0	0	0	1	0	136	233					A	27213854	G	A	27213854	2	1	12	1	0	0	0	0	0	0	0	1	7319	1103	39	1		1	HOXA10	7	27213854	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	813238	27213854	131924809	99	1382											
CCDC146	57639	broad.mit.edu	37	chr7	76885756	76885756	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttacgagaagatttggcatCtaaacaaaagcaattattaa	6	5	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:76885756C>G	ENST00000285871.4	+	6	741	c.614C>G	c.(613-615)tCt>tGt	p.S205C	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	205										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GATTTGGCATCTAAACAAAAG	0.318																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(613-615)tCt>tGt		coiled-coil domain containing 146							64	63	63					7																	76885756		2203	4299	6502	SO:0001583	missense	57639							g.chr7:76885756C>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.614C>G	7.37:g.76885756C>G	ENSP00000285871:p.Ser205Cys					AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	p.S205C	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			6	741	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	205					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.614C>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895049	0.52121	.	.	ENSG00000135205	ENST00000285871	D	0.85013	-1.93	5.95	-1.76	0.08006	.	0.906597	0.09568	N	0.784502	D	0.85327	0.5671	L	0.54323	1.7	0.09310	N	0.999999	D	0.76494	0.999	P	0.58970	0.849	T	0.73808	-0.3866	10	0.59425	D	0.04	1.3152	3.8391	0.08906	0.097:0.4296:0.0952:0.3782	.	205	Q8IYE0	CC146_HUMAN	C	205	ENSP00000285871:S205C	ENSP00000285871:S205C	S	+	2	0	AC007000.1	76723692	0.000000	0.05858	0.003000	0.11579	0.937000	0.57800	0.721000	0.25911	-0.068000	0.12953	-0.253000	0.11424	TCT		0.318	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	268	0	0	0	1	0	6	268					G	76885756	C	G	76885756	3	3	12	1	0	0	0	0	1	0	0	0	2787	913	32	5	632	5	CCDC146	7	76885756	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	49671902	76885756	82252907	100	1383											
ABCB1	5243	broad.mit.edu	37	chr7	87150105	87150105	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattacctgtatggtacctGcaaactctgagcatacatat	6	9	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:87150105G>A	ENST00000265724.3	-	23	3190	c.2773C>T	c.(2773-2775)Cag>Tag	p.Q925*	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q861*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	925	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)			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)	TATGGTACCTGCAAACTCTGA	0.403																																						ENST00000265724.3																			0				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						c.(2773-2775)Cag>Tag		ATP-binding cassette, sub-family B (MDR/TAP), 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)						129	120	123					7																	87150105		2203	4300	6503	SO:0001587	stop_gained	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.chr7:87150105G>A	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.2773C>T	7.37:g.87150105G>A	ENSP00000265724:p.Gln925*					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q861*	p.Q925*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			23	3190	-	Esophageal squamous(14;0.00164)		925			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.2773C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	42	9.625404	0.99223	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.28	4.37	0.52481	.	0.329961	0.34133	N	0.004224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-8.4195	13.3785	0.60754	0.0:0.0:0.6083:0.3917	.	.	.	.	X	706;925;861	.	ENSP00000265724:Q925X	Q	-	1	0	ABCB1	86988041	0.986000	0.35501	1.000000	0.80357	0.471000	0.32888	1.987000	0.40687	2.467000	0.83353	0.655000	0.94253	CAG		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		5	368	0	0	0	1	0	5	368					A	87150105	G	A	87150105	4	1	12	1	0	0	0	0	0	1	0	0	40	1328	46	2	1097	2	ABCB1	7	87150105	Nonsense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	10264349	87150105	71988558	101	1384											
NRCAM	4897	broad.mit.edu	37	chr7	107866732	107866732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcataacagatatagtctTcgcgggtgtcctctgggagg	13	8	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:107866732T>C	ENST00000425651.2	-	6	640	c.641A>G	c.(640-642)gAa>gGa	p.E214G	NRCAM_ENST00000379022.4_Missense_Mutation_p.E214G|NRCAM_ENST00000413765.2_Missense_Mutation_p.E214G|NRCAM_ENST00000351718.4_Missense_Mutation_p.E208G|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214G|NRCAM_ENST00000379028.3_Missense_Mutation_p.E214G	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	214	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)			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						GATATAGTCTTCGCGGGTGTC	0.418																																						ENST00000379028.3																			0				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						c.(640-642)gAa>gGa		neuronal cell adhesion molecule							129	136	134					7																	107866732		2203	4300	6503	SO:0001583	missense	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.chr7:107866732T>C		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.641A>G	7.37:g.107866732T>C	ENSP00000401244:p.Glu214Gly					NRCAM_ENST00000351718.4_Missense_Mutation_p.E208G|NRCAM_ENST00000413765.2_Missense_Mutation_p.E214G|NRCAM_ENST00000379022.4_Missense_Mutation_p.E214G|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214G|NRCAM_ENST00000425651.2_Missense_Mutation_p.E214G	p.E214G			Q92823	NRCAM_HUMAN			9	1111	-			214			Ig-like 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.641A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920555	0.52653	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06;4.06	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313124	0.38272	N	0.001747	T	0.02970	0.0088	N	0.13098	0.295	0.39134	D	0.961914	B;B;B;B;B	0.32031	0.333;0.337;0.268;0.352;0.058	B;B;B;B;B	0.35727	0.149;0.209;0.158;0.098;0.051	T	0.34453	-0.9828	10	0.02654	T	1	.	15.992	0.80214	0.0:0.0:0.0:1.0	.	214;214;214;208;214	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	G	214;214;214;214;208;214;214;214;208;208	ENSP00000368314:E214G;ENSP00000407858:E214G;ENSP00000325269:E208G;ENSP00000368310:E214G;ENSP00000401244:E214G;ENSP00000368308:E214G;ENSP00000390421:E208G	ENSP00000325269:E208G	E	-	2	0	NRCAM	107653968	0.985000	0.35326	0.987000	0.45799	0.987000	0.75469	2.648000	0.46647	2.228000	0.72767	0.528000	0.53228	GAA		0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		65	456	0	0	0	1	0	65	456					C	107866732	T	C	107866732	3	2	12	1	0	0	0	0	1	0	0	0	10686	1783	62	4	3403	4	NRCAM	7	107866732	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	20716627	107866732	51271931	102	1385											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	296						8	296	---	---	---	---	-	114270018	CAG	-	114270016	7	5	12	1	0	1	0	1	0	0	0	0	6054	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-2J-AABP-01A-11D-A40W-08	6403284	114270016	44868647	103	1386											
CFTR	1080	broad.mit.edu	37	chr7	117232055	117232055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatggaacatttaaagAaagctgacaaaatattaatt	5	4	0	2	rs121908777		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:117232055A>G	ENST00000003084.6	+	14	1966	c.1834A>G	c.(1834-1836)Aaa>Gaa	p.K612E	CFTR_ENST00000454343.1_Missense_Mutation_p.K551E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACATTTAAAGAAAGCTGACAA	0.303									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1834-1836)Aaa>Gaa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						47	54	52					7																	117232055		2201	4300	6501	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232055A>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1834A>G	7.37:g.117232055A>G	ENSP00000003084:p.Lys612Glu					CFTR_ENST00000454343.1_Missense_Mutation_p.K551E	p.K612E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	1966	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		612			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1834A>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743848	0.49151	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90324	-2.65;-2.65;-2.65	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.103398	0.64402	D	0.000002	T	0.80909	0.4714	N	0.11284	0.12	0.49213	D	0.999763	B	0.10296	0.003	B	0.08055	0.003	T	0.76005	-0.3117	10	0.12103	T	0.63	-26.229	15.8718	0.79127	1.0:0.0:0.0:0.0	.	612	P13569	CFTR_HUMAN	E	612;551;582	ENSP00000003084:K612E;ENSP00000403677:K551E;ENSP00000389119:K582E	ENSP00000003084:K612E	K	+	1	0	CFTR	117019291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.274000	0.72587	2.198000	0.70561	0.460000	0.39030	AAA		0.303	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		5	387	0	0	0	1	0	5	387					G	117232055	A	G	117232055	3	3	12	1	0	0	0	0	1	0	0	0	3303	247	9	4	1888	4	CFTR	7	117232055	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	2962039	117232055	41906608	104	1387											
KEL	3792	broad.mit.edu	37	chr7	142650922	142650922	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagcatctcctccaccAgttgtgacatgtttttcaaa	6	11	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:142650922A>T	ENST00000355265.2	-	9	1520	c.1046T>A	c.(1045-1047)cTg>cAg	p.L349Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	349					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCCTCCACCAGTTGTGACAT	0.532																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1045-1047)cTg>cAg		Kell blood group, metallo-endopeptidase							257	259	258					7																	142650922		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650922A>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1046T>A	7.37:g.142650922A>T	ENSP00000347409:p.Leu349Gln					KEL_ENST00000479768.2_5'UTR	p.L349Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1520	-	Melanoma(164;0.059)		349					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1046T>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	A	32	5.145578	0.94603	.	.	ENSG00000197993	ENST00000355265	T	0.79749	-1.3	5.78	5.78	0.91487	Peptidase M13 (1);	0.373489	0.19519	N	0.112338	D	0.87107	0.6095	M	0.77103	2.36	0.19775	N	0.999952	D	0.64830	0.994	P	0.57244	0.816	T	0.81616	-0.0852	10	0.62326	D	0.03	-6.0103	12.5517	0.56229	1.0:0.0:0.0:0.0	.	349	P23276	KELL_HUMAN	Q	349	ENSP00000347409:L349Q	ENSP00000347409:L349Q	L	-	2	0	KEL	142361044	0.860000	0.29831	0.668000	0.29813	0.674000	0.39518	4.779000	0.62375	2.225000	0.72522	0.392000	0.25879	CTG		0.532	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		10	1739	0	0	0	1	0	10	1739					T	142650922	A	T	142650922	3	4	12	1	0	0	0	0	1	0	0	0	8172	188	7	5	1196	5	KEL	7	142650922	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	25418867	142650922	16487741	105	1388											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075960	144075960	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagcagagcagtgacgGtaagcgggagcatgcgtgag	17	8	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:144075960G>A	ENST00000056217.5	+	14	4810		c.e14+1		ARHGEF5_ENST00000471847.2_Splice_Site	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5						actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGCAGTGACGGTAAGCGGGAG	0.587																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e14+1		Rho guanine nucleotide exchange factor (GEF) 5							152	124	133					7																	144075960		2203	4300	6503	SO:0001630	splice_region_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144075960G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4636+1G>A	7.37:g.144075960G>A						ARHGEF5_ENST00000471847.2_Splice_Site		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			14	4810	+	Melanoma(164;0.14)							A6NNJ2|Q6ZML7	Splice_Site	SNP	ENST00000056217.5	37		CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792429	0.50102	.	.	ENSG00000050327	ENST00000056217;ENST00000474817;ENST00000344879;ENST00000471847	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7991	0.88581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF5	143706893	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	8.334000	0.90028	2.808000	0.96608	0.655000	0.94253	.		0.587	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	Intron	7	622	0	0	0	1	0	7	622					A	144075960	G	A	144075960	5	1	12	1	0	0	0	0	0	0	1	0	909	1275	44	2	4687	2	ARHGEF5	7	144075960	Splice_Site	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	1425038	144075960	15062703	106	1389											
CUL1	8454	broad.mit.edu	37	chr7	148457556	148457556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagagagtactgaattcttgCagcagaacccagttactgaa	10	8	1	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:148457556C>G	ENST00000325222.4	+	7	1036	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	CUL1_ENST00000409469.1_Missense_Mutation_p.Q253E|CUL1_ENST00000602748.1_Missense_Mutation_p.Q253E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	253					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGAATTCTTGCAGCAGAACCC	0.343																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(757-759)Cag>Gag		cullin 1							112	127	122					7																	148457556		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457556C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.757C>G	7.37:g.148457556C>G	ENSP00000326804:p.Gln253Glu					CUL1_ENST00000602748.1_Missense_Mutation_p.Q253E|CUL1_ENST00000409469.1_Missense_Mutation_p.Q253E	p.Q253E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	1036	+	Melanoma(164;0.15)		253					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.757C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508051	0.44558	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.29655	1.56;1.56	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	N	0.20610	0.595	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.04991	-1.0913	10	0.18276	T	0.48	-0.61	17.2933	0.87163	0.0:1.0:0.0:0.0	.	253	Q13616	CUL1_HUMAN	E	253;253;211;180	ENSP00000387160:Q253E;ENSP00000326804:Q253E	ENSP00000326804:Q253E	Q	+	1	0	CUL1	148088489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.377000	0.81083	0.585000	0.79938	CAG		0.343	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		7	1273	0	0	0	1	0	7	1273					G	148457556	C	G	148457556	3	3	12	1	0	0	0	0	1	0	0	0	4065	711	25	5	779	5	CUL1	7	148457556	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4381596	148457556	10681107	107	1390											
ZNF777	27153	broad.mit.edu	37	chr7	149152729	149152729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcttcaggggagtgaaCgggggcttcctggtggtggg	21	6	1	1	rs201615239	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:149152729C>T	ENST00000247930.4	-	2	708	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGAGTGAACGGGGGCTTCC	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		12825	0.0		0.002	False		,,,				2504	0.0					ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(385-387)Gtt>Att		zinc finger protein 777							89	102	98					7																	149152729		1861	4093	5954	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152729C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.385G>A	7.37:g.149152729C>T	ENSP00000247930:p.Val129Ile						p.V129I	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	708	-	Melanoma(164;0.165)		129					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.385G>A	CCDS43675.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.332	-0.136544	0.06711	.	.	ENSG00000196453	ENST00000247930	T	0.04917	3.53	4.94	2.16	0.27623	.	0.185481	0.26307	N	0.025121	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.40572	-0.9556	10	0.52906	T	0.07	-16.5416	3.4549	0.07511	0.0948:0.1735:0.5599:0.1718	.	129	Q9ULD5-2	.	I	129	ENSP00000247930:V129I	ENSP00000247930:V129I	V	-	1	0	ZNF777	148783662	0.914000	0.31030	0.001000	0.08648	0.180000	0.23129	1.290000	0.33319	0.155000	0.19261	-1.474000	0.01003	GTT		0.617	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		83	1147	0	0	0	1	0	83	1147					T	149152729	C	T	149152729	3	4	12	1	0	0	0	0	1	0	0	0	18203	536	19	1	2130	1	ZNF777	7	149152729	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	695173	149152729	9985934	108	1391											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	459						7	459	---	---	---	---	-	155531074	CA	-	155531073	7	5	12	1	0	1	0	1	0	0	0	0	13180	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-2J-AABP-01A-11D-A40W-08	6378344	155531073	3607590	109	1392											
UBE3C	9690	broad.mit.edu	37	chr7	156963025	156963025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccaaagaagtgcatttgatCgctgtgctaccttgtcacag	9	10	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:156963025C>G	ENST00000348165.5	+	4	583	c.223C>G	c.(223-225)Cgc>Ggc	p.R75G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R32G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	75					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCATTTGATCGCTGTGCTAC	0.388																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(223-225)Cgc>Ggc		ubiquitin protein ligase E3C							151	149	150					7																	156963025		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156963025C>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.223C>G	7.37:g.156963025C>G	ENSP00000309198:p.Arg75Gly					UBE3C_ENST00000389103.4_Missense_Mutation_p.R32G	p.R75G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	4	583	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	75					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.223C>G	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867596	0.51588	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.44482	0.92	4.82	4.82	0.62117	.	0.819753	0.11357	N	0.572285	T	0.28830	0.0715	N	0.14661	0.345	0.35965	D	0.834878	B;B;B	0.28820	0.062;0.127;0.224	B;B;B	0.31869	0.017;0.085;0.137	T	0.25572	-1.0128	10	0.25751	T	0.34	.	11.4221	0.49987	0.0:0.9171:0.0:0.0829	.	75;75;32	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	75;32	ENSP00000309198:R75G	ENSP00000309198:R75G	R	+	1	0	UBE3C	156655786	1.000000	0.71417	0.897000	0.35233	0.940000	0.58332	3.205000	0.51090	2.219000	0.72066	0.650000	0.86243	CGC		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		461	392	0	0	0	1	0	461	392					G	156963025	C	G	156963025	3	3	12	1	0	0	0	0	1	0	0	0	16935	884	31	5	237	5	UBE3C	7	156963025	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1431952	156963025	2175638	110	1393											
CSMD1	64478	broad.mit.edu	37	chr8	3611456	3611456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gatggagcatccttaccttgGaactgagcgttaaatccttt	9	9	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:3611456G>C	ENST00000520002.1	-	6	1482	c.927C>G	c.(925-927)ttC>ttG	p.F309L	CSMD1_ENST00000539096.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F309L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F309L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F309L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F309L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	309	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTACCTTGGAACTGAGCGT	0.403																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(925-927)ttC>ttG		CUB and Sushi multiple domains 1							88	83	85					8																	3611456		1832	4085	5917	SO:0001583	missense	64478					integral to membrane		g.chr8:3611456G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.927C>G	8.37:g.3611456G>C	ENSP00000430733:p.Phe309Leu					CSMD1_ENST00000537824.1_Missense_Mutation_p.F309L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F309L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F309L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F309L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F309L	p.F309L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	6	1482	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	309			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.927C>G		.	.	.	.	.	.	.	.	.	.	G	11.91	1.780727	0.31502	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	6.08	-1.13	0.09775	.	.	.	.	.	T	0.35335	0.0928	M	0.61703	1.905	0.35682	D	0.814128	P	0.34462	0.454	B	0.34931	0.192	T	0.51545	-0.8692	9	0.66056	D	0.02	.	13.2266	0.59919	0.4072:0.0:0.5928:0.0	.	309	E5RIG2	.	L	309;309;171;309;309;309	ENSP00000383047:F309L;ENSP00000430733:F309L;ENSP00000441462:F309L;ENSP00000446243:F309L;ENSP00000441675:F309L	ENSP00000320445:F171L	F	-	3	2	CSMD1	3598864	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.015000	0.29963	-0.116000	0.11893	-0.469000	0.05056	TTC		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	200	0	0	0	1	0	8	200					C	3611456	G	C	3611456	3	2	12	1	0	0	0	0	1	0	0	0	3955	1165	41	5	9840	5	CSMD1	8	3611456	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		3611456	142752566	111	1394											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189622	11189622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaggacagggaaggTggaggagtgagatagaactt	18	3	0	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:11189622T>A	ENST00000382435.4	+	1	1226	c.1007T>A	c.(1006-1008)gTg>gAg	p.V336E		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	336						integral component of membrane (GO:0016021)											ACAGGGAAGGTGGAGGAGTGA	0.483																																						ENST00000382435.4																			0											c.(1006-1008)gTg>gAg		solute carrier family 35, member G5							50	53	52					8																	11189622		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189622T>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1007T>A	8.37:g.11189622T>A	ENSP00000371872:p.Val336Glu						p.V336E	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1226	+			336					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.1007T>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	6.405	0.442757	0.12164	.	.	ENSG00000177710	ENST00000382435	T	0.35048	1.33	.	.	.	.	1.312980	0.05800	N	0.611920	T	0.22627	0.0546	L	0.36672	1.1	0.23653	N	0.997196	B	0.02656	0.0	B	0.04013	0.001	T	0.23261	-1.0193	8	0.05436	T	0.98	0.2747	.	.	.	.	336	Q96KT7	S35G5_HUMAN	E	336	ENSP00000371872:V336E	ENSP00000371872:V336E	V	+	2	0	SLC35G5	11227032	0.421000	0.25465	0.263000	0.24496	0.264000	0.26372	0.069000	0.14552	0.056000	0.16144	0.055000	0.15244	GTG		0.483	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		76	194	0	0	0	1	0	76	194					A	11189622	T	A	11189622	3	1	12	1	0	0	0	0	1	0	0	0	560	1696	59	5	1009	5	AMAC1L2	8	11189622	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	7578166	11189622	135174400	112	1395											
LPL	4023	broad.mit.edu	37	chr8	19805853	19805853	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatccatggctggacggTaagggaggctctttggggaa	18	6	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:19805853T>C	ENST00000311322.8	+	2	719		c.e2+2		LPL_ENST00000521994.1_Splice_Site	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCTGGACGGTAAGGGAGGCT	0.562																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e2+2		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						87	72	77					8																	19805853		2203	4300	6503	SO:0001630	splice_region_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805853T>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.249+2T>C	8.37:g.19805853T>C						LPL_ENST00000521994.1_Splice_Site		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	719	+								B2R5T9|Q16282|Q16283|Q96FC4	Splice_Site	SNP	ENST00000311322.8	37		CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757153	0.69648	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000522701;ENST00000311322;ENST00000538071;ENST00000535763	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2795	0.60207	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19850133	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.991000	0.88244	2.020000	0.59435	0.533000	0.62120	.		0.562	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		Intron	12	194	0	0	0	1	0	12	194					C	19805853	T	C	19805853	5	2	12	1	0	0	0	0	0	0	1	0	8959	1652	57	4	257	4	LPL	8	19805853	Splice_Site	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	8616231	19805853	126558169	113	1396											
CLVS1	157807	broad.mit.edu	37	chr8	62212498	62212498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagagactatagagaaaGctcgcctggaactgaatgaa	11	8	0	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:62212498G>T	ENST00000519846.1	+	3	584	c.112G>T	c.(112-114)Gct>Tct	p.A38S	CLVS1_ENST00000325897.4_Missense_Mutation_p.A38S|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	38					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TATAGAGAAAGCTCGCCTGGA	0.438																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(112-114)Gct>Tct		clavesin 1							79	74	76					8																	62212498		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212498G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.112G>T	8.37:g.62212498G>T	ENSP00000428402:p.Ala38Ser					CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.A38S	p.A38S			Q8IUQ0	CLVS1_HUMAN			3	584	+			38					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.112G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679508	0.68042	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.83673	-1.75;-1.75	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.052913	0.85682	D	0.000000	D	0.88262	0.6389	M	0.88310	2.945	0.58432	D	0.999999	P;P;B	0.42941	0.514;0.794;0.373	B;P;B	0.46049	0.133;0.502;0.133	D	0.89801	0.3975	10	0.66056	D	0.02	-24.076	14.8236	0.70091	0.0:0.0:0.8562:0.1438	.	38;38;38	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	S	38	ENSP00000428402:A38S;ENSP00000325506:A38S	ENSP00000325506:A38S	A	+	1	0	CLVS1	62375052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.871000	0.87180	2.746000	0.94184	0.655000	0.94253	GCT		0.438	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		8	255	1	0	0.000274275	1	0.000284996	8	255					T	62212498	G	T	62212498	3	4	12	1	0	0	0	0	1	0	0	0	3580	971	34	3	114	3	CLVS1	8	62212498	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	42406645	62212498	84151524	114	1397											
TRIM55	84675	broad.mit.edu	37	chr8	67066340	67066340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaaactccagtccctgCagcagcagaaactgcggatc	10	13	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:67066340C>A	ENST00000315962.4	+	9	1668	c.1295C>A	c.(1294-1296)gCa>gAa	p.A432E	TRIM55_ENST00000276573.7_Missense_Mutation_p.A432E|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	432					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCAGTCCCTGCAGCAGCAGAA	0.493																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(1294-1296)gCa>gAa		tripartite motif containing 55							62	58	59					8																	67066340		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67066340C>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1295C>A	8.37:g.67066340C>A	ENSP00000323913:p.Ala432Glu					TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.A432E|TRIM55_ENST00000350034.4_Intron	p.A432E	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		9	1668	+		Lung NSC(129;0.138)|all_lung(136;0.221)	432					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1295C>A	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001179	0.35320	.	.	ENSG00000147573	ENST00000315962;ENST00000276573	T;T	0.27402	1.68;1.67	5.94	3.06	0.35304	.	0.673119	0.14303	N	0.328184	T	0.23171	0.0560	N	0.19112	0.55	0.48762	D	0.999709	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.03423	-1.1038	10	0.66056	D	0.02	.	14.9043	0.70706	0.3263:0.6737:0.0:0.0	.	432;432	Q9BYV6;Q9BYV6-3	TRI55_HUMAN;.	E	432	ENSP00000323913:A432E;ENSP00000276573:A432E	ENSP00000276573:A432E	A	+	2	0	TRIM55	67228894	0.993000	0.37304	0.839000	0.33178	0.988000	0.76386	1.965000	0.40471	0.366000	0.24427	0.650000	0.86243	GCA		0.493	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		6	236	1	0	8.12818e-05	1	8.4735e-05	6	236					A	67066340	C	A	67066340	3	1	12	1	0	0	0	0	1	0	0	0	16582	710	25	3	1329	3	TRIM55	8	67066340	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4853842	67066340	79297682	115	1398											
VPS13B	157680	broad.mit.edu	37	chr8	100654450	100654450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaagatctcttaaggAgcagcatttcttttccttca	7	10	3	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:100654450A>G	ENST00000358544.2	+	34	5818	c.5707A>G	c.(5707-5709)Agc>Ggc	p.S1903G	VPS13B_ENST00000357162.2_Missense_Mutation_p.S1878G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1903					protein transport (GO:0015031)					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)			TCTCTTAAGGAGCAGCATTTC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(5707-5709)Agc>Ggc		vacuolar protein sorting 13 homolog B (yeast)							118	125	122					8																	100654450		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654450A>G	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.5707A>G	8.37:g.100654450A>G	ENSP00000351346:p.Ser1903Gly					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1878G	p.S1903G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5818	+	Breast(36;3.73e-07)		1903					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5707A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433667	0.43224	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70869	-0.52;-0.51	5.8	4.64	0.57946	.	0.205149	0.47852	D	0.000220	T	0.54111	0.1838	N	0.19112	0.55	0.80722	D	1	B;B	0.30914	0.3;0.199	B;B	0.29785	0.107;0.079	T	0.51601	-0.8685	10	0.39692	T	0.17	.	10.4424	0.44472	0.9266:0.0:0.0734:0.0	.	1878;1903	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	1878;1903	ENSP00000349685:S1878G;ENSP00000351346:S1903G	ENSP00000349685:S1878G	S	+	1	0	VPS13B	100723626	1.000000	0.71417	0.330000	0.25442	0.992000	0.81027	3.460000	0.53028	1.034000	0.39945	0.459000	0.35465	AGC		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	592	0	0	0	1	0	8	592					G	100654450	A	G	100654450	3	3	12	1	0	0	0	0	1	0	0	0	17244	304	11	4	6031	4	VPS13B	8	100654450	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	33588110	100654450	45709572	116	1399											
RGS22	26166	broad.mit.edu	37	chr8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T													tcgtcttctaggactgccaaINStttttttttctgcttattat					rs7841915	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		10	346						10	346	---	---	---	---	T	100990178	-	T	100990177	7	5	12	1	0	1	1	0	0	0	0	0	13355	98	4	0	327	0	RGS22	8	100990177	Frame_Shift_Ins	INS	-	TCGA-2J-AABP-01A-11D-A40W-08	335727	100990177	45373845	117	1400											
RIMS2	9699	broad.mit.edu	37	chr8	105010418	105010418	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgcttgcagtcattTtcttactctacctcgctcca	5	15	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:105010418T>A	ENST00000436393.2	+	16	2625	c.2384T>A	c.(2383-2385)tTt>tAt	p.F795Y	RIMS2_ENST00000507740.1_Missense_Mutation_p.F809Y|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1079					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)			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)			TGCAGTCATTTTCTTACTCTA	0.333										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(2425-2427)tTt>tAt		regulating synaptic membrane exocytosis 2							144	124	130					8																	105010418		1861	4103	5964	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105010418T>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.2384T>A	8.37:g.105010418T>A	ENSP00000390665:p.Phe795Tyr	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.F795Y|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron	p.F809Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2662	+			1076			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2426T>A		.	.	.	.	.	.	.	.	.	.	T	12.83	2.056567	0.36277	.	.	ENSG00000176406	ENST00000329869;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T	0.15718	2.49;2.4;2.8	4.81	3.58	0.41010	.	.	.	.	.	T	0.03695	0.0105	N	0.00707	-1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32981	-0.9886	9	0.02654	T	1	.	7.4381	0.27166	0.3428:0.0:0.0:0.6572	.	795;809	D6RA03;Q9UQ26-3	.;.	Y	1032;809;809;795	ENSP00000423559:F809Y;ENSP00000386228:F809Y;ENSP00000390665:F795Y	ENSP00000332184:F1032Y	F	+	2	0	RIMS2	105079594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.901000	0.39838	2.020000	0.59435	0.528000	0.53228	TTT		0.333	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	398	0	0	0	1	0	12	398					A	105010418	T	A	105010418	3	1	12	1	0	0	0	0	1	0	0	0	13418	1841	64	5	3246	5	RIMS2	8	105010418	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	4020241	105010418	41353604	118	1401											
ZFPM2	23414	broad.mit.edu	37	chr8	106811110	106811110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatttccagcctgtgccccTtcccacagtgcaccaagagc	8	16	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:106811110T>C	ENST00000407775.2	+	7	1148	c.898T>C	c.(898-900)Ttc>Ctc	p.F300L	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F31L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	300					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTGTGCCCCTTCCCACAGTG	0.498																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(898-900)Ttc>Ctc		zinc finger protein, FOG family member 2							123	126	125					8																	106811110		2027	4204	6231	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811110T>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.898T>C	8.37:g.106811110T>C	ENSP00000384179:p.Phe300Leu					RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F31L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F168L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.F300L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1148	+			300					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.898T>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331469	0.81690	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045624	0.85682	D	0.000000	T	0.60560	0.2278	L	0.41824	1.3	0.58432	D	0.999991	P	0.40144	0.704	B	0.38428	0.273	T	0.61893	-0.6969	10	0.42905	T	0.14	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	300	Q8WW38	FOG2_HUMAN	L	300;168;168;31	ENSP00000384179:F300L;ENSP00000430757:F168L;ENSP00000428720:F168L;ENSP00000367733:F31L	ENSP00000367733:F31L	F	+	1	0	ZFPM2	106880286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.323000	0.78572	0.528000	0.53228	TTC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			10	760	0	0	0	1	0	10	760					C	106811110	T	C	106811110	3	2	12	1	0	0	0	0	1	0	0	0	17711	1609	56	4	924	4	ZFPM2	8	106811110	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	1800692	106811110	39552912	119	1402											
MAL2	114569	broad.mit.edu	37	chr8	120255673	120255673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatttttgcctttatgaCgacagcttgttatggttgca	9	6	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:120255673C>T	ENST00000276681.6	+	5	578	c.476C>T	c.(475-477)aCg>aTg	p.T159M	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	159	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GCCTTTATGACGACAGCTTGT	0.378																																						ENST00000276681.6																			0											c.(475-477)aCg>aTg		mal, T-cell differentiation protein 2 (gene/pseudogene)							96	87	90					8																	120255673		1920	4134	6054	SO:0001583	missense	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120255673C>T	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.476C>T	8.37:g.120255673C>T	ENSP00000475434:p.Thr159Met					RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	p.T159M	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		5	578	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		159			MARVEL.		B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37	c.476C>T																																																																																					0.378	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		5	55	0	0	0	1	0	5	55					T	120255673	C	T	120255673	3	4	12	1	0	0	0	0	1	0	0	0	9241	536	19	1	491	1	MAL2	8	120255673	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	13444563	120255673	26108349	120	1403											
ZHX2	22882	broad.mit.edu	37	chr8	123965518	123965518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagacagcatggaacaaGctgtcttggattccatgggg	13	8	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:123965518G>T	ENST00000314393.4	+	3	2603	c.1768G>T	c.(1768-1770)Gct>Tct	p.A590S		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	590					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATGGAACAAGCTGTCTTGGA	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1768-1770)Gct>Tct		zinc fingers and homeoboxes 2							65	65	65					8																	123965518		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965518G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1768G>T	8.37:g.123965518G>T	ENSP00000314709:p.Ala590Ser						p.A590S	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2603	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		590						Missense_Mutation	SNP	ENST00000314393.4	37	c.1768G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175493	0.38413	.	.	ENSG00000178764	ENST00000314393	T	0.18810	2.19	5.41	4.54	0.55810	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.162999	0.53938	N	0.000054	T	0.16085	0.0387	N	0.24115	0.695	0.58432	D	0.999999	B	0.16396	0.017	B	0.14023	0.01	T	0.03249	-1.1056	10	0.33141	T	0.24	-10.3415	15.7423	0.77910	0.0:0.0:0.8626:0.1374	.	590	Q9Y6X8	ZHX2_HUMAN	S	590	ENSP00000314709:A590S	ENSP00000314709:A590S	A	+	1	0	ZHX2	124034699	1.000000	0.71417	0.913000	0.36048	0.952000	0.60782	4.975000	0.63777	1.509000	0.48786	0.561000	0.74099	GCT		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	366	1	0	0.000602214	1	0.000619698	5	366					T	123965518	G	T	123965518	3	4	12	1	0	0	0	0	1	0	0	0	17729	971	34	3	1770	3	ZHX2	8	123965518	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	3709845	123965518	22398504	121	1404											
CYP11B2	1585	broad.mit.edu	37	chr8	143999078	143999078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgcaggtgctcataaCcctgctccctccagatctgc	9	16	2	1	rs371296931		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:143999078C>T	ENST00000323110.2	-	1	181	c.179G>A	c.(178-180)gGt>gAt	p.G60D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	60					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)			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)	GTGCTCATAACCCTGCTCCCT	0.632									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(178-180)gGt>gAt		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						89	77	81					8																	143999078		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.chr8:143999078C>T	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.179G>A	8.37:g.143999078C>T	ENSP00000325822:p.Gly60Asp						p.G60D	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			1	181	-	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)		60					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.179G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.471753	0.26423	.	.	ENSG00000179142	ENST00000323110	T	0.69175	-0.38	3.48	3.48	0.39840	.	0.173526	0.26757	U	0.022649	T	0.77942	0.4206	M	0.88842	2.985	0.23845	N	0.996683	P	0.40909	0.732	P	0.49853	0.624	T	0.71500	-0.4574	10	0.49607	T	0.09	.	12.8488	0.57846	0.0:1.0:0.0:0.0	.	60	P19099	C11B2_HUMAN	D	60	ENSP00000325822:G60D	ENSP00000325822:G60D	G	-	2	0	CYP11B2	143996080	0.021000	0.18746	0.039000	0.18376	0.225000	0.24961	3.056000	0.49923	1.950000	0.56595	0.655000	0.94253	GGT		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			30	285	0	0	0	1	0	30	285					T	143999078	C	T	143999078	3	4	12	1	0	0	0	0	1	0	0	0	4157	507	18	2	1368	2	CYP11B2	8	143999078	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	20033560	143999078	2364944	122	1405											
TIGD5	84948	broad.mit.edu	37	chr8	144681662	144681662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctccggaggaggttgCggagtggctgcacctggacg	18	11	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:144681662C>T	ENST00000504548.2	+	1	1589	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A481V|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	530						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGAGGTTGCGGAGTGGCTG	0.731																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1588-1590)gCg>gTg		tigger transposable element derived 5							11	13	12					8																	144681662		2168	4282	6450	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681662C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1589C>T	8.37:g.144681662C>T	ENSP00000421489:p.Ala530Val					TIGD5_ENST00000321385.3_Missense_Mutation_p.A481V	p.A530V	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1589	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		530					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1589C>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766158	0.49574	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.36340	1.26;1.32	4.72	2.91	0.33838	.	0.000000	0.45361	U	0.000374	T	0.23370	0.0565	L	0.27053	0.805	0.09310	N	0.999993	B	0.19073	0.033	B	0.10450	0.005	T	0.15378	-1.0439	10	0.30854	T	0.27	.	9.7316	0.40363	0.0:0.8318:0.0:0.1682	.	481	Q53EQ6	TIGD5_HUMAN	V	530;481	ENSP00000421489:A530V;ENSP00000315906:A481V	ENSP00000315906:A481V	A	+	2	0	TIGD5	144752805	0.661000	0.27430	0.007000	0.13788	0.792000	0.44763	1.088000	0.30877	0.436000	0.26393	0.650000	0.86243	GCG		0.731	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		11	32	0	0	0	1	0	11	32					T	144681662	C	T	144681662	3	4	12	1	0	0	0	0	1	0	0	0	15951	768	27	1	1591	1	TIGD5	8	144681662	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	682584	144681662	1682360	123	1406											
TIGD5	84948	broad.mit.edu	37	chr8	144681772	144681772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccagtctgccctctGccatggggggcggagaggac	15	15	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:144681772G>A	ENST00000504548.2	+	1	1699	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A518T|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	567						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCTGCCCTCTGCCATGGGGGG	0.726																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1699-1701)Gcc>Acc		tigger transposable element derived 5							7	8	8					8																	144681772		2099	4205	6304	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681772G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1699G>A	8.37:g.144681772G>A	ENSP00000421489:p.Ala567Thr					TIGD5_ENST00000321385.3_Missense_Mutation_p.A518T	p.A567T	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1699	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		567					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1699G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	0.324	-0.960373	0.02267	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.30981	1.51;1.52	3.82	0.594	0.17485	.	3.015890	0.01945	U	0.042235	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.16420	T	0.52	.	4.5839	0.12273	0.3537:0.1617:0.4847:0.0	.	518	Q53EQ6	TIGD5_HUMAN	T	567;518	ENSP00000421489:A567T;ENSP00000315906:A518T	ENSP00000315906:A518T	A	+	1	0	TIGD5	144752915	0.001000	0.12720	0.001000	0.08648	0.311000	0.27955	0.772000	0.26647	-0.017000	0.14103	0.650000	0.86243	GCC		0.726	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		16	30	0	0	0	1	0	16	30					A	144681772	G	A	144681772	3	1	12	1	0	0	0	0	1	0	0	0	15951	1319	46	2	1701	2	TIGD5	8	144681772	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	110	144681772	1682250	124	1407											
GLIS3	169792	broad.mit.edu	37	chr9	3829444	3829444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caggcggcacaattctctggGaatcggggtagtgtggggga	18	7	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:3829444G>C	ENST00000324333.10	-	9	2250	c.2057C>G	c.(2056-2058)tCc>tGc	p.S686C	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S841C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	686					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AATTCTCTGGGAATCGGGGTA	0.532																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2056-2058)tCc>tGc		GLIS family zinc finger 3							97	82	87					9																	3829444		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829444G>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2057C>G	9.37:g.3829444G>C	ENSP00000325494:p.Ser686Cys					GLIS3_ENST00000381971.3_Missense_Mutation_p.S841C|GLIS3_ENST00000461870.1_5'UTR	p.S686C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2250	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	686					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.2057C>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.237057	0.39498	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11063	2.84;2.81	5.92	5.01	0.66863	.	0.129747	0.33419	N	0.004924	T	0.15912	0.0383	L	0.27053	0.805	0.30241	N	0.795045	D;D;D	0.63046	0.992;0.984;0.988	P;P;P	0.56216	0.794;0.724;0.635	T	0.02736	-1.1117	10	0.35671	T	0.21	.	14.3854	0.66940	0.0:0.0:0.7312:0.2688	.	281;841;686	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	C	686;841	ENSP00000325494:S686C;ENSP00000371398:S841C	ENSP00000325494:S686C	S	-	2	0	GLIS3	3819444	1.000000	0.71417	0.996000	0.52242	0.373000	0.29922	5.230000	0.65321	1.470000	0.48102	0.557000	0.71058	TCC		0.532	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		16	251	0	0	0	1	0	16	251					C	3829444	G	C	3829444	3	2	12	1	0	0	0	0	1	0	0	0	6476	1174	41	5	278	5	GLIS3	9	3829444	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		3829444	137383987	125	1408											
MPDZ	8777	broad.mit.edu	37	chr9	13224583	13224583	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagttgcaatatttacCtaagagtaatgcagggatta	10	5	0	2	rs10960971		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:13224583C>T	ENST00000319217.7	-	4	431		c.e4-1		MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATATTTACCTAAGAGTAAT	0.333																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.e4-1		multiple PDZ domain protein							83	79	81					9																	13224583		1821	4090	5911	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224583C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.184-1G>A	9.37:g.13224583C>T						MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site		NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	431	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Splice_Site	SNP	ENST00000319217.7	37			.	.	.	.	.	.	.	.	.	.	C	13.51	2.259354	0.39995	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2019	0.98263	0.0:1.0:0.0:0.0	rs10960971;rs10960971	.	.	.	.	-1	.	.	.	-	.	.	MPDZ	13214583	1.000000	0.71417	0.995000	0.50966	0.230000	0.25150	3.950000	0.56676	2.776000	0.95493	0.655000	0.94253	.		0.333	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Intron	5	112	0	0	0	1	0	5	112					T	13224583	C	T	13224583	5	4	12	1	0	0	0	0	0	0	1	0	9763	695	24	2	6114	2	MPDZ	9	13224583	Splice_Site	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	9395139	13224583	127988848	126	1409											
ACTL7B	10880	broad.mit.edu	37	chr9	111617958	111617958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgccagcgtcggccgcctCggggcagcgtttgcccacgg	16	16	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:111617958C>T	ENST00000374667.3	-	1	1281	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	85						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCGGCCGCCTCGGGGCAGCGT	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)Gag>Aag		actin-like 7B							73	75	74					9																	111617958		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617958C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.253G>A	9.37:g.111617958C>T	ENSP00000363799:p.Glu85Lys						p.E85K	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1281	-			85					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.253G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206026	0.22205	.	.	ENSG00000148156	ENST00000374667	D	0.97066	-4.23	4.27	3.35	0.38373	.	1.816400	0.03688	U	0.246632	D	0.93439	0.7907	N	0.19112	0.55	0.18873	N	0.999982	P	0.35328	0.495	B	0.29598	0.104	D	0.87186	0.2231	10	0.87932	D	0	.	10.6347	0.45558	0.0:0.6202:0.3798:0.0	.	85	Q9Y614	ACL7B_HUMAN	K	85	ENSP00000363799:E85K	ENSP00000363799:E85K	E	-	1	0	ACTL7B	110657779	0.011000	0.17503	0.014000	0.15608	0.406000	0.30931	0.404000	0.20999	0.977000	0.38444	0.655000	0.94253	GAG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		52	333	0	0	0	1	0	52	333					T	111617958	C	T	111617958	3	4	12	1	0	0	0	0	1	0	0	0	201	893	31	1	998	1	ACTL7B	9	111617958	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	98393375	111617958	29595473	127	1410											
ACTL7B	10880	broad.mit.edu	37	chr9	111618120	111618120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggccgcacctgtgtcccGgaggctggcgtcagggccgg	18	13	1	0	rs377288822		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:111618120G>A	ENST00000374667.3	-	1	1119	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	31						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTGTGTCCCGGAGGCTGGCG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(91-93)Cgg>Tgg		actin-like 7B		G	TRP/ARG	0,4406		0,0,2203	67	69	68		91	2	0	9		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL7B	NM_006686.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	31/416	111618120	1,13005	2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618120G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.91C>T	9.37:g.111618120G>A	ENSP00000363799:p.Arg31Trp						p.R31W	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1119	-			31					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.91C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403558	0.11754	0.0	1.16E-4	ENSG00000148156	ENST00000374667	D	0.95171	-3.63	4.13	2.0	0.26442	.	4.079830	0.01076	U	0.004909	D	0.89248	0.6661	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.44597	0.454	D	0.83697	0.0180	10	0.87932	D	0	.	8.2052	0.31452	0.0:0.0:0.532:0.468	.	31	Q9Y614	ACL7B_HUMAN	W	31	ENSP00000363799:R31W	ENSP00000363799:R31W	R	-	1	2	ACTL7B	110657941	0.000000	0.05858	0.024000	0.17045	0.097000	0.18754	0.268000	0.18571	0.915000	0.36847	0.655000	0.94253	CGG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		6	343	0	0	0	1	0	6	343					A	111618120	G	A	111618120	3	1	12	1	0	0	0	0	1	0	0	0	201	1115	39	1	1160	1	ACTL7B	9	111618120	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	162	111618120	29595311	128	1411											
DENND1A	57706	broad.mit.edu	37	chr9	126164112	126164112	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgatgaagaggtccagcCtctcgtcgggaacttggccg	14	10	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:126164112C>T	ENST00000373624.2	-	20	1779				DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron|MIR601_ENST00000385256.1_RNA|DENND1A_ENST00000394215.2_Missense_Mutation_p.G523S|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.G553S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAGGTCCAGCCTCTCGTCGGG	0.498											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373620.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1657-1659)Ggc>Agc		DENN/MADD domain containing 1A							237	204	215					9																	126164112		2203	4300	6503	SO:0001627	intron_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126164112C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1577+1568G>A	9.37:g.126164112C>T			OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1547	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.G523S	p.G553S	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN			21	1877	-			0					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1657G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957287	0.18507	.	.	ENSG00000119522	ENST00000373620;ENST00000394215	T;T	0.08193	3.28;3.12	4.3	1.43	0.22495	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33650	-0.9860	8	0.87932	D	0	.	6.362	0.21433	0.0:0.6831:0.0:0.3169	.	523;553	Q8TEH3-5;Q8TEH3-2	.;.	S	553;523	ENSP00000362722:G553S;ENSP00000377763:G523S	ENSP00000362722:G553S	G	-	1	0	DENND1A	125203933	0.021000	0.18746	0.000000	0.03702	0.012000	0.07955	1.123000	0.31308	0.196000	0.20367	-0.379000	0.06801	GGC		0.498	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		40	353	0	0	0	1	0	40	353					T	126164112	C	T	126164112	1	4	12	0	1	0	0	0	0	0	0	0	4442	681	24	2		2	DENND1A	9	126164112	Intron	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	14545992	126164112	15049319	129	1412											
C9orf167	54863	broad.mit.edu	37	chr9	140173477	140173477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcaagtatcggccgcgCgtggagcacaggagccgcgc	16	14	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:140173477C>T	ENST00000357503.2	+	2	532	c.336C>T	c.(334-336)cgC>cgT	p.R112R		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	112					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										ATCGGCCGCGCGTGGAGCACA	0.667																																						ENST00000357503.2																			0											c.(334-336)cgC>cgT		torsin family 4, member A							14	12	13					9																	140173477		2196	4294	6490	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173477C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.336C>T	9.37:g.140173477C>T							p.R112R	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	532	+			112					A2BFA4	Silent	SNP	ENST00000357503.2	37	c.336C>T	CCDS7041.1																																																																																				0.667	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		4	52	0	0	0	1	0	4	52					T	140173477	C	T	140173477	2	4	12	1	0	0	0	0	0	0	0	1	2475	755	27	1		1	C9orf167	9	140173477	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	14009365	140173477	1039954	130	1413											
STAM	8027	broad.mit.edu	37	chr10	17746472	17746472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgcaaagtacagacCccagtgatgatcagccagac	10	11	1	5			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:17746472C>T	ENST00000377524.3	+	10	1170	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	STAM_ENST00000540523.1_Missense_Mutation_p.P208S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	319					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGTACAGACCCCAGTGATGA	0.373																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(955-957)Ccc>Tcc		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							140	137	138					10																	17746472		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17746472C>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.955C>T	10.37:g.17746472C>T	ENSP00000366746:p.Pro319Ser					STAM_ENST00000540523.1_Missense_Mutation_p.P208S	p.P319S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			10	1170	+			319					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.955C>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142791	0.94560	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.50277	1.16;0.75	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72896	-0.4153	10	0.41790	T	0.15	-15.4889	20.2956	0.98549	0.0:1.0:0.0:0.0	.	319	Q92783	STAM1_HUMAN	S	319;208	ENSP00000366746:P319S;ENSP00000438073:P208S	ENSP00000366746:P319S	P	+	1	0	STAM	17786478	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.805000	0.96524	0.460000	0.39030	CCC		0.373	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		15	639	0	0	0	1	0	15	639					T	17746472	C	T	17746472	3	4	12	1	0	0	0	0	1	0	0	0	15300	623	22	2	993	2	STAM	10	17746472	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		17746472	117788275	131	1414											
MYO3A	53904	broad.mit.edu	37	chr10	26377224	26377224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actattataaatgacaattcTagcagatttggaaaatactt	5	5	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:26377224T>C	ENST00000265944.5	+	15	1618	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S	MYO3A_ENST00000543632.1_Silent_p.S484S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	484	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGACAATTCTAGCAGATTTG	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1450-1452)tcT>tcC		myosin IIIA							64	67	66					10																	26377224		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377224T>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1452T>C	10.37:g.26377224T>C						MYO3A_ENST00000543632.1_Silent_p.S484S	p.S484S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1618	+			484			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1452T>C	CCDS7148.1																																																																																				0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	300	0	0	0	1	0	5	300					C	26377224	T	C	26377224	2	2	12	1	0	0	0	0	0	0	0	1	10117	1509	53	4		4	MYO3A	10	26377224	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	8630752	26377224	109157523	132	1415											
MYPN	84665	broad.mit.edu	37	chr10	69933955	69933955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccaatgctcccccagcGgtgacaacatccagtaagca	7	15	0	1	rs560387426		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:69933955G>A	ENST00000358913.5	+	11	2594	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	MYPN_ENST00000354393.2_Silent_p.A427A|MYPN_ENST00000540630.1_Silent_p.A702A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	702					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)			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						CTCCCCCAGCGGTGACAACAT	0.507																																						ENST00000358913.5																			0				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						c.(2104-2106)gcG>gcA		myopalladin							127	120	122					10																	69933955		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69933955G>A	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.2106G>A	10.37:g.69933955G>A						MYPN_ENST00000540630.1_Silent_p.A702A|MYPN_ENST00000354393.2_Silent_p.A427A	p.A702A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			11	2594	+			702					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.2106G>A	CCDS7275.1																																																																																				0.507	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		7	400	0	0	0	1	0	7	400					A	69933955	G	A	69933955	2	1	12	1	0	0	0	0	0	0	0	1	10139	1103	39	1		1	MYPN	10	69933955	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	43556731	69933955	65600792	133	1416											
PPIF	10105	broad.mit.edu	37	chr10	81111297	81111297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtccatctacggaagcCgctttcctgacgagaacttt	10	11	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:81111297C>T	ENST00000225174.3	+	4	441	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	PPIF_ENST00000394579.3_Missense_Mutation_p.R124C	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	124	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	CTACGGAAGCCGCTTTCCTGA	0.607																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(370-372)Cgc>Tgc		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						87	67	74					10																	81111297		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81111297C>T	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"cyclophilin D"	604486	"peptidylprolyl isomerase F (cyclophilin F)"			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.370C>T	10.37:g.81111297C>T	ENSP00000225174:p.Arg124Cys					PPIF_ENST00000394579.3_Missense_Mutation_p.R124C	p.R124C	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		4	441	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		124			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.370C>T	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779750	0.90195	.	.	ENSG00000108179	ENST00000394579;ENST00000225174	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.116753	0.64402	D	0.000010	T	0.67316	0.2880	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.916	T	0.70059	-0.4976	10	0.87932	D	0	-34.3876	18.6855	0.91562	0.0:1.0:0.0:0.0	.	124;124	Q2YDB7;P30405	.;PPIF_HUMAN	C	124	ENSP00000378080:R124C;ENSP00000225174:R124C	ENSP00000225174:R124C	R	+	1	0	PPIF	80781303	0.563000	0.26594	1.000000	0.80357	0.975000	0.68041	2.997000	0.49457	2.700000	0.92200	0.655000	0.94253	CGC		0.607	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		54	92	0	0	0	1	0	54	92					T	81111297	C	T	81111297	3	4	12	1	0	0	0	0	1	0	0	0	12370	652	23	1	384	1	PPIF	10	81111297	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	11177342	81111297	54423450	134	1417											
SIGIRR	59307	broad.mit.edu	37	chr11	408737	408737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcccccaattcccaatGgaagcccgtctttcagccac	8	16	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:408737G>A	ENST00000431843.2	-	3	470	c.164C>T	c.(163-165)cCa>cTa	p.P55L	SIGIRR_ENST00000332725.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000382520.2_Missense_Mutation_p.P55L|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P55L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000529486.1_Intron	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	55	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATTCCCAATGGAAGCCCGTC	0.607																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(163-165)cCa>cTa		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							103	109	107					11																	408737		2203	4297	6500	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408737G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.164C>T	11.37:g.408737G>A	ENSP00000403104:p.Pro55Leu					SIGIRR_ENST00000382520.2_Missense_Mutation_p.P55L|SIGIRR_ENST00000332725.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P55L|SIGIRR_ENST00000529486.1_Intron	p.P55L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	470	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	55			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.164C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	2.581	-0.297431	0.05532	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000530494	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	2.65	0.661	0.17874	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.138550	0.06670	N	0.766117	T	0.49372	0.1553	L	0.31752	0.955	0.22156	N	0.999324	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.25984	-1.0116	10	0.23891	T	0.37	.	3.6481	0.08192	0.281:0.278:0.441:0.0	.	55;55	C9JFX4;Q6IA17	.;SIGIR_HUMAN	L	55	ENSP00000403104:P55L;ENSP00000380756:P55L;ENSP00000333656:P55L;ENSP00000433022:P55L;ENSP00000371960:P55L;ENSP00000434030:P55L	ENSP00000333656:P55L	P	-	2	0	SIGIRR	398737	0.000000	0.05858	0.063000	0.19743	0.027000	0.11550	0.243000	0.18106	0.173000	0.19788	0.305000	0.20034	CCA		0.607	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		220	703	0	0	0	1	0	220	703					A	408737	G	A	408737	3	1	12	1	0	0	0	0	1	0	0	0	14354	1348	47	2	1100	2	SIGIRR	11	408737	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		408737	134597779	135	1418											
PHRF1	57661	broad.mit.edu	37	chr11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-													tggagaacaccaaagcgagcGaggaggaggaggacccgacc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	877						9	877	---	---	---	---	-	592588	GAG	-	592586	7	5	12	1	0	1	0	1	0	0	0	0	11903	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-2J-AABP-01A-11D-A40W-08	183849	592586	134413930	136	1419											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctccggctgtggaggctGtggctctggctgtgggggct	20	9	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(91-93)tGt>tTt		keratin associated protein 5-5							22	33	29					11																	1651162		2072	4152	6224	SO:0001583	missense	439915					keratin filament		g.chr11:1651162G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.92G>T	11.37:g.1651162G>T	ENSP00000382584:p.Cys31Phe						p.C31F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	130	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	31	C -> R (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.92G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261628	0.05791	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.02067	4.47	2.25	-0.0385	0.13880	.	.	.	.	.	T	0.04861	0.0131	M	0.84773	2.715	0.09310	N	1	P	0.44734	0.842	B	0.41571	0.36	T	0.22661	-1.0210	9	0.46703	T	0.11	.	7.6289	0.28228	0.0:0.5258:0.4742:0.0	.	31	Q701N2	KRA55_HUMAN	F	31;29	ENSP00000382584:C31F	ENSP00000382584:C31F	C	+	2	0	KRTAP5-5	1607738	0.996000	0.38824	0.001000	0.08648	0.090000	0.18270	3.139000	0.50577	0.010000	0.14839	0.448000	0.29417	TGT		0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			6	295	1	0	0.217242	1	0.218613	6	295					T	1651162	G	T	1651162	3	4	12	1	0	0	0	0	1	0	0	0	8595	1377	48	3	94	3	KRTAP5-5	11	1651162	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	1058576	1651162	133355354	137	1420											
OR52R1	119695	broad.mit.edu	37	chr11	4824814	4824814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacatcatggccaaagCggtaggtgaggaaagaaaaa	15	6	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:4824814C>T	ENST00000356069.2	-	1	796	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.R345H	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCAAAGCGGTAGGTGAG	0.473																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(1033-1035)cGc>cAc		olfactory receptor, family 52, subfamily R, member 1							130	133	132					11																	4824814		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824814C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.797G>A	11.37:g.4824814C>T	ENSP00000348368:p.Arg266His					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.R266H	p.R345H			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1033	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	266					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.1034G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116717	0.37339	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.37235	1.21;1.21	5.57	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.129160	0.35378	N	0.003244	T	0.67021	0.2849	M	0.92026	3.265	0.23314	N	0.997929	D	0.89917	1.0	D	0.72075	0.976	T	0.66212	-0.5980	10	0.72032	D	0.01	.	14.9152	0.70792	0.1437:0.8563:0.0:0.0	.	266	Q8NGF1	O52R1_HUMAN	H	266;345	ENSP00000348368:R266H;ENSP00000369742:R345H	ENSP00000348368:R266H	R	-	2	0	OR52R1	4781390	0.000000	0.05858	0.977000	0.42913	0.016000	0.09150	0.035000	0.13797	1.566000	0.49654	0.650000	0.86243	CGC		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		8	580	0	0	0	1	0	8	580					T	4824814	C	T	4824814	3	4	12	1	0	0	0	0	1	0	0	0	11173	768	27	1	153	1	OR52R1	11	4824814	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	3173652	4824814	130181702	138	1421											
OR51B5	282763	broad.mit.edu	37	chr11	5364535	5364535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgtgggcattgtggTcagggccagccccaggtctg	15	13	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:5364535T>C	ENST00000300773.2	-	1	274	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	74					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.T74A(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)		GGCATTGTGGTCAGGGCCAGC	0.542																																						ENST00000300773.2																			1	Substitution - Missense(1)	p.T74A(1)	large_intestine(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						c.(220-222)Acc>Gcc		olfactory receptor, family 51, subfamily B, member 5							45	48	47					11																	5364535		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364535T>C	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.220A>G	11.37:g.5364535T>C	ENSP00000300773:p.Thr74Ala					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.T74A	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	274	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	74					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.220A>G	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683347	0.29872	.	.	ENSG00000242180	ENST00000300773	T	0.00289	8.28	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.184940	0.26268	N	0.025345	T	0.00210	0.0006	L	0.39898	1.24	0.09310	N	1	B	0.20368	0.044	B	0.24848	0.056	T	0.39522	-0.9610	10	0.46703	T	0.11	.	9.3458	0.38107	0.1604:0.0:0.0:0.8396	.	74	Q9H339	O51B5_HUMAN	A	74	ENSP00000300773:T74A	ENSP00000300773:T74A	T	-	1	0	OR51B5	5321111	0.000000	0.05858	0.060000	0.19600	0.835000	0.47333	-0.615000	0.05597	2.017000	0.59298	0.529000	0.55759	ACC		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		24	171	0	0	0	1	0	24	171					C	5364535	T	C	5364535	3	2	12	1	0	0	0	0	1	0	0	0	11133	1667	58	4	722	4	OR51B5	11	5364535	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	539721	5364535	129641981	139	1422											
UBQLNL	143630	broad.mit.edu	37	chr11	5536585	5536585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcccttggtggaaaTcatagcagtgttggctttgg	14	8	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:5536585T>C	ENST00000380184.1	-	1	1350	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	363										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGGTGGAAATCATAGCAGTG	0.488																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1087-1089)Att>Gtt		ubiquilin-like							233	231	232					11																	5536585		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536585T>C	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1087A>G	11.37:g.5536585T>C	ENSP00000369531:p.Ile363Val					HBG2_ENST00000380259.2_Intron	p.I363V	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1350	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	363					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1087A>G	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.978713	0.00448	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.45276	0.9	5.09	-1.17	0.09648	.	1.997390	0.02498	N	0.090160	T	0.28896	0.0717	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.15065	-1.0450	10	0.10902	T	0.67	.	8.968	0.35887	0.0:0.5708:0.0:0.4292	.	363	Q8IYU4	UBQLN_HUMAN	V	363;148	ENSP00000369531:I363V	ENSP00000369531:I363V	I	-	1	0	UBQLNL	5493161	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.032000	0.12266	-0.117000	0.11872	0.533000	0.62120	ATT		0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		68	391	0	0	0	1	0	68	391					C	5536585	T	C	5536585	3	2	12	1	0	0	0	0	1	0	0	0	16954	1435	50	4	344	4	UBQLNL	11	5536585	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	172050	5536585	129469931	140	1423											
ARFIP2	23647	broad.mit.edu	37	chr11	6498495	6498495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcttgtgcatcacctTgatctgggggtccagcaggg	14	11	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:6498495T>G	ENST00000254584.2	-	8	957	c.874A>C	c.(874-876)Aag>Cag	p.K292Q	ARFIP2_ENST00000445086.2_Missense_Mutation_p.K207Q|TRIM3_ENST00000525074.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.K254Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K292Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	292	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCATCACCTTGATCTGGGGG	0.582																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(874-876)Aag>Cag		ADP-ribosylation factor interacting protein 2							36	32	34					11																	6498495		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6498495T>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.874A>C	11.37:g.6498495T>G	ENSP00000254584:p.Lys292Gln					ARFIP2_ENST00000445086.2_Missense_Mutation_p.K207Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.K254Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K292Q	p.K292Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	957	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	292			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.874A>C	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597057	0.66332	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.79108	0.992;0.974;0.983	D	0.87100	0.2178	10	0.33940	T	0.23	.	13.4796	0.61328	0.0:0.0:0.0:1.0	.	325;207;292	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	Q	292;292;207;254	ENSP00000254584:K292Q;ENSP00000379998:K292Q;ENSP00000391427:K207Q;ENSP00000398375:K254Q	ENSP00000254584:K292Q	K	-	1	0	ARFIP2	6455071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.833000	0.53350	0.482000	0.46254	AAG		0.582	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		46	45	0	0	0	1	0	46	45					G	6498495	T	G	6498495	3	3	12	1	0	0	0	0	1	0	0	0	855	1821	63	4	155	4	ARFIP2	11	6498495	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	961910	6498495	128508021	141	1424											
RRP8	23378	broad.mit.edu	37	chr11	6622651	6622651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgtcttctctgtgggGgcctcagctggggcctggtc	14	13	4	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:6622651G>A	ENST00000254605.6	-	3	762	c.645C>T	c.(643-645)gcC>gcT	p.A215A	RRP8_ENST00000534343.1_Intron|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000299421.4_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	215					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCTCTGTGGGGGCCTCAGCTG	0.602																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(643-645)gcC>gcT		ribosomal RNA processing 8, methyltransferase, homolog (yeast)							39	42	41					11																	6622651		2201	4296	6497	SO:0001819	synonymous_variant	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622651G>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.645C>T	11.37:g.6622651G>A						RRP8_ENST00000534343.1_Intron	p.A215A	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			3	762	-			215					Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	c.645C>T	CCDS31411.1																																																																																				0.602	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		19	194	0	0	0	1	0	19	194					A	6622651	G	A	6622651	2	1	12	1	0	0	0	0	0	0	0	1	13740	1219	43	2		2	RRP8	11	6622651	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	124156	6622651	128383865	142	1425											
SOX6	55553	broad.mit.edu	37	chr11	16068200	16068200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatggctttcatcactgTatcctgatccccaaaaaggg	8	11	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:16068200T>C	ENST00000352083.6	-	12	1560	c.1483A>G	c.(1483-1485)Aca>Gca	p.T495A	SOX6_ENST00000528429.1_Missense_Mutation_p.T495A|SOX6_ENST00000396356.3_Missense_Mutation_p.T495A|SOX6_ENST00000528252.1_Missense_Mutation_p.T468A|SOX6_ENST00000316399.6_Missense_Mutation_p.T495A|SOX6_ENST00000527619.1_Missense_Mutation_p.T471A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	495					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATCACTGTATCCTGATCC	0.502																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1483-1485)Aca>Gca		SRY (sex determining region Y)-box 6							97	88	91					11																	16068200		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16068200T>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1483A>G	11.37:g.16068200T>C	ENSP00000339876:p.Thr495Ala					SOX6_ENST00000527619.1_Missense_Mutation_p.T471A|SOX6_ENST00000528252.1_Missense_Mutation_p.T468A|SOX6_ENST00000396356.3_Missense_Mutation_p.T495A|SOX6_ENST00000316399.6_Missense_Mutation_p.T495A|SOX6_ENST00000528429.1_Missense_Mutation_p.T495A	p.T495A			P35712	SOX6_HUMAN			12	1560	-			495					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.1483A>G		.	.	.	.	.	.	.	.	.	.	T	5.849	0.340921	0.11069	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97256	-4.31;-4.3;-4.31;-4.24;-4.24;-4.3	5.96	5.96	0.96718	.	0.046374	0.85682	D	0.000000	D	0.92456	0.7605	N	0.03154	-0.405	0.54753	D	0.999981	B;B;P	0.51147	0.007;0.0;0.942	B;B;P	0.50659	0.006;0.001;0.647	D	0.91182	0.4977	10	0.02654	T	1	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	495;495;471	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	A	495;495;495;468;471;495	ENSP00000324948:T495A;ENSP00000339876:T495A;ENSP00000379644:T495A;ENSP00000432134:T468A;ENSP00000434455:T471A;ENSP00000433233:T495A	ENSP00000324948:T495A	T	-	1	0	SOX6	16024776	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	3.331000	0.52075	2.283000	0.76528	0.477000	0.44152	ACA		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		14	255	0	0	0	1	0	14	255					C	16068200	T	C	16068200	3	2	12	1	0	0	0	0	1	0	0	0	15005	1638	57	4	1023	4	SOX6	11	16068200	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	9445549	16068200	118938316	143	1426											
GAS2	2620	broad.mit.edu	37	chr11	22696443	22696443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgagcccaaaggtaCgcagtggacctggcctctct	11	14	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:22696443C>T	ENST00000454584.2	+	2	333	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	GAS2_ENST00000278187.3_Missense_Mutation_p.R10C|GAS2_ENST00000433790.1_Missense_Mutation_p.R10C|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	10					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCCAAAGGTACGCAGTGGACC	0.423																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(28-30)Cgc>Tgc		growth arrest-specific 2							99	95	96					11																	22696443		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696443C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.28C>T	11.37:g.22696443C>T	ENSP00000401145:p.Arg10Cys					GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.R10C|GAS2_ENST00000278187.3_Missense_Mutation_p.R10C	p.R10C	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			2	333	+			10					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.28C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191049	0.78902	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T	0.50813	0.75;0.8;0.8;0.73;0.8	5.37	5.37	0.77165	.	0.274150	0.37304	N	0.002154	T	0.57184	0.2036	L	0.38175	1.15	0.58432	D	0.999995	D	0.89917	1.0	P	0.58873	0.847	T	0.59920	-0.7363	10	0.87932	D	0	-12.4504	18.4565	0.90722	0.0:1.0:0.0:0.0	.	10	O43903	GAS2_HUMAN	C	10	ENSP00000432584:R10C;ENSP00000401145:R10C;ENSP00000278187:R10C;ENSP00000435946:R10C;ENSP00000396708:R10C	ENSP00000278187:R10C	R	+	1	0	GAS2	22653019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.659000	0.90383	0.655000	0.94253	CGC		0.423	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		105	143	0	0	0	1	0	105	143					T	22696443	C	T	22696443	3	4	12	1	0	0	0	0	1	0	0	0	6273	536	19	1	30	1	GAS2	11	22696443	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	6628243	22696443	112310073	144	1427											
OR8H3	390152	broad.mit.edu	37	chr11	55890089	55890089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaactgtcgtcacacctAaaaccttagcgaacttactg	5	13	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:55890089A>G	ENST00000313472.3	+	1	241	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CGTCACACCTAAAACCTTAGC	0.428																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(241-243)Aaa>Gaa		olfactory receptor, family 8, subfamily H, member 3							294	290	291					11																	55890089		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890089A>G	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.241A>G	11.37:g.55890089A>G	ENSP00000323928:p.Lys81Glu						p.K81E	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	241	+	Esophageal squamous(21;0.00693)		81					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.241A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878942	0.51801	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.221905	0.32273	N	0.006329	T	0.06917	0.0176	M	0.93197	3.39	0.30080	N	0.80929	P	0.50943	0.94	P	0.52424	0.698	T	0.01729	-1.1286	10	0.87932	D	0	.	9.3624	0.38203	0.8198:0.1802:0.0:0.0	.	81	Q8N146	OR8H3_HUMAN	E	81	ENSP00000323928:K81E	ENSP00000323928:K81E	K	+	1	0	OR8H3	55646665	0.374000	0.25081	0.991000	0.47740	0.259000	0.26198	4.051000	0.57412	1.325000	0.45301	0.145000	0.16022	AAA		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		131	1141	0	0	0	1	0	131	1141					G	55890089	A	G	55890089	3	3	12	1	0	0	0	0	1	0	0	0	11281	363	13	4	243	4	OR8H3	11	55890089	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	33193646	55890089	79116427	145	1428											
AHNAK	79026	broad.mit.edu	37	chr11	62296384	62296384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccctttcaactttgcAtcaggacactccagatcaac	7	13	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:62296384A>G	ENST00000378024.4	-	5	5779	c.5505T>C	c.(5503-5505)gaT>gaC	p.D1835D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1835					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACTTTGCATCAGGACACT	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5503-5505)gaT>gaC		AHNAK nucleoprotein							173	177	175					11																	62296384		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296384A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5505T>C	11.37:g.62296384A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D1835D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5779	-		Melanoma(852;0.155)	1835					A1A586	Silent	SNP	ENST00000378024.4	37	c.5505T>C	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	1045	0	0	0	1	0	9	1045					G	62296384	A	G	62296384	2	3	12	1	0	0	0	0	0	0	0	1	414	214	8	4		4	AHNAK	11	62296384	Silent	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	6406295	62296384	72710132	146	1429											
LRRC32	2615	broad.mit.edu	37	chr11	76372197	76372198	+	Frame_Shift_Ins	INS	-	-	C													ggtatgcaggctgggtgcctINScccccagcagccgctccagc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:76372197_76372198insC	ENST00000407242.2	-	3	681_682	c.439_440insG	c.(439-441)gagfs	p.E147fs	LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.E147fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.E147fs|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	147					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCTGGGTGCCTCCCCCAGCAGC	0.678																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(439-441)ggcfs		leucine rich repeat containing 32																																				SO:0001589	frameshift_variant	2615					integral to plasma membrane		g.chr11:76372197_76372198insC	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.440dupG	11.37:g.76372202_76372202dupC	ENSP00000384126:p.Glu147fs					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.G147fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.G147fs	p.G147fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	681_682	-			147					Q86V06	Frame_Shift_Ins	INS	ENST00000407242.2	37	c.439_440insG	CCDS8245.1																																																																																				0.678	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	204						7	204	---	---	---	---	C	76372198	-	C	76372197	7	5	12	1	0	1	1	0	0	0	0	0	9025	1551	54	0	1552	0	LRRC32	11	76372197	Frame_Shift_Ins	INS	-	TCGA-2J-AABP-01A-11D-A40W-08	14075813	76372197	58634319	147	1430											
MTNR1B	4544	broad.mit.edu	37	chr11	92715195	92715195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggctccacttaactGcatcggcctcgctgtggcca	11	15	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:92715195G>T	ENST00000257068.2	+	2	812	c.806G>T	c.(805-807)tGc>tTc	p.C269F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	269					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCACTTAACTGCATCGGCCTC	0.537																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(805-807)tGc>tTc		melatonin receptor 1B	Ramelteon(DB00980)						168	147	154					11																	92715195		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715195G>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.806G>T	11.37:g.92715195G>T	ENSP00000257068:p.Cys269Phe						p.C269F	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	812	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	269						Missense_Mutation	SNP	ENST00000257068.2	37	c.806G>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.325245	0.01309	.	.	ENSG00000134640	ENST00000257068	T	0.71222	-0.55	4.0	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.204737	0.43260	D	0.000596	T	0.34164	0.0888	N	0.00746	-1.225	0.35946	D	0.833547	B	0.02656	0.0	B	0.06405	0.002	T	0.31194	-0.9952	10	0.11182	T	0.66	-26.6567	10.5772	0.45233	0.0:0.0:0.3994:0.6006	.	269	P49286	MTR1B_HUMAN	F	269	ENSP00000257068:C269F	ENSP00000257068:C269F	C	+	2	0	MTNR1B	92354843	1.000000	0.71417	0.992000	0.48379	0.607000	0.37147	3.888000	0.56204	1.008000	0.39264	0.491000	0.48974	TGC		0.537	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			51	559	1	0	1.57914e-17	1	1.74307e-17	51	559					T	92715195	G	T	92715195	3	4	12	1	0	0	0	0	1	0	0	0	9993	1319	46	3	812	3	MTNR1B	11	92715195	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	16342998	92715195	42291321	148	1431											
MMP13	4322	broad.mit.edu	37	chr11	102818723	102818723	+	Frame_Shift_Del	DEL	T	T	-													tggaagacccagttcagataTttttttgggataaccttcca							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:102818723delT	ENST00000260302.3	-	8	1136	c.1108delA	c.(1108-1110)atafs	p.I370fs	MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	370	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGTTCAGATATTTTTTTGGGA	0.388																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1108-1110)tafs		matrix metallopeptidase 13 (collagenase 3)							88	79	82					11																	102818723		2202	4299	6501	SO:0001589	frameshift_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102818723delT	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1108delA	11.37:g.102818723delT	ENSP00000260302:p.Ile370fs					MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs	p.I370fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1136	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	370			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Frame_Shift_Del	DEL	ENST00000260302.3	37	c.1108delA	CCDS8324.1																																																																																				0.388	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	810						7	810	---	---	---	---	-	102818723	T	-	102818723	7	5	12	1	0	1	0	1	0	0	0	0	9693	1493	52	0	319	0	MMP13	11	102818723	Frame_Shift_Del	DEL	T	TCGA-2J-AABP-01A-11D-A40W-08	10103528	102818723	32187793	149	1432											
SIDT2	51092	broad.mit.edu	37	chr11	117064645	117064647	+	In_Frame_Del	DEL	TCT	TCT	-													cgtggtctggggcttcgcgcTcttcttcttcttccagggac					rs369807521		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:117064645_117064647delTCT	ENST00000324225.4	+	24	2819_2821	c.2288_2290delTCT	c.(2287-2292)ctcttc>ctc	p.F767del	SIDT2_ENST00000532062.1_In_Frame_Del_p.F59del|SIDT2_ENST00000431081.2_In_Frame_Del_p.F764del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	767	Poly-Phe.				cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCTTCGCGCTCTTCTTCTTCTT	0.601																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2287-2292)ctc>c		SID1 transmembrane family, member 2																																				SO:0001651	inframe_deletion	51092					integral to membrane|lysosomal membrane		g.chr11:117064645_117064647delTCT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2288_2290delTCT	11.37:g.117064654_117064656delTCT	ENSP00000314023:p.Phe767del					SIDT2_ENST00000431081.2_In_Frame_Del_p.LF760del|SIDT2_ENST00000532062.1_In_Frame_Del_p.LF55del	p.LF763del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	24	2819_2821	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	763					Q8NBY7|Q9Y357	In_Frame_Del	DEL	ENST00000324225.4	37	c.2288_2290delTCT	CCDS31682.1																																																																																				0.601	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		9	319						9	319	---	---	---	---	-	117064647	TCT	-	117064645	7	5	12	1	0	1	0	1	0	0	0	0	14353	1551	54	0	2382	0	SIDT2	11	117064645	In_Frame_Del	DEL	TCT	TCGA-2J-AABP-01A-11D-A40W-08	14245922	117064645	17941871	150	1433											
ARHGEF12	23365	broad.mit.edu	37	chr11	120312438	120312438	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatggacagtgcagctgttTccagagcattgaattactaa	9	8	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:120312438T>A	ENST00000397843.2	+	14	1281	c.1115T>A	c.(1114-1116)tTc>tAc	p.F372Y	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F269Y|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F353Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	372	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGCAGCTGTTTCCAGAGCATT	0.378			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1114-1116)tTc>tAc		Rho guanine nucleotide exchange factor (GEF) 12							149	137	141					11																	120312438		1865	4091	5956	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120312438T>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1115T>A	11.37:g.120312438T>A	ENSP00000380942:p.Phe372Tyr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F353Y|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F269Y	p.F372Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	14	1281	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	372			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1115T>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	34	5.309469	0.95629	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.84873	-1.91;-1.91;-1.91	5.85	5.85	0.93711	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.47852	D	0.000210	D	0.93080	0.7797	M	0.85041	2.73	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.983;0.986	D;D;D	0.97110	1.0;0.966;0.98	D	0.94032	0.7302	10	0.87932	D	0	-11.142	16.2393	0.82399	0.0:0.0:0.0:1.0	.	269;353;372	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Y	372;353;269	ENSP00000380942:F372Y;ENSP00000349056:F353Y;ENSP00000432984:F269Y	ENSP00000349056:F353Y	F	+	2	0	ARHGEF12	119817648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.615000	0.83006	2.239000	0.73571	0.455000	0.32223	TTC		0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		9	432	0	0	0	1	0	9	432					A	120312438	T	A	120312438	3	1	12	1	0	0	0	0	1	0	0	0	897	1783	62	5	1169	5	ARHGEF12	11	120312438	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	3247793	120312438	14694078	151	1434											
CRTAM	56253	broad.mit.edu	37	chr11	122726507	122726507	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggtggactgcattatcCgacacagaggcctgcaaggg	13	11	0	1	rs533016781		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:122726507C>T	ENST00000227348.4	+	5	642	c.595C>T	c.(595-597)Cga>Tga	p.R199*		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGCATTATCCGACACAGAGG	0.393																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(595-597)Cga>Tga		cytotoxic and regulatory T cell molecule							99	95	97					11																	122726507		2202	4299	6501	SO:0001587	stop_gained	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726507C>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.595C>T	11.37:g.122726507C>T	ENSP00000227348:p.Arg199*						p.R199*	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	642	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	199			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000227348.4	37	c.595C>T	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299035	0.81025	.	.	ENSG00000109943	ENST00000227348	.	.	.	4.86	3.95	0.45737	.	0.447093	0.20907	N	0.083538	.	.	.	.	.	.	0.20563	N	0.999883	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3935	0.26923	0.1661:0.7463:0.0:0.0876	.	.	.	.	X	199	.	ENSP00000227348:R199X	R	+	1	2	CRTAM	122231717	0.888000	0.30383	0.027000	0.17364	0.136000	0.21042	2.240000	0.43088	1.180000	0.42898	0.462000	0.41574	CGA		0.393	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		116	153	0	0	0	1	0	116	153					T	122726507	C	T	122726507	4	4	12	1	0	0	0	0	0	1	0	0	3906	644	23	1	613	1	CRTAM	11	122726507	Nonsense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2414069	122726507	12280009	152	1435											
CACNA1C	775	broad.mit.edu	37	chr12	2676769	2676769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctggccctgttcacGgcagagatgctcctgaagat	12	13	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:2676769G>A	ENST00000347598.4	+	13	1704	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	CACNA1C_ENST00000399655.1_Silent_p.T568T|CACNA1C_ENST00000399644.1_Silent_p.T568T|CACNA1C_ENST00000399617.1_Silent_p.T568T|CACNA1C_ENST00000399621.1_Silent_p.T568T|CACNA1C_ENST00000399649.1_Silent_p.T568T|CACNA1C_ENST00000327702.7_Silent_p.T568T|CACNA1C_ENST00000399606.1_Silent_p.T568T|CACNA1C_ENST00000399634.1_Silent_p.T568T|CACNA1C_ENST00000399629.1_Silent_p.T568T|CACNA1C_ENST00000399601.1_Silent_p.T568T|CACNA1C_ENST00000480911.1_Silent_p.T568T|CACNA1C_ENST00000399641.1_Silent_p.T568T|CACNA1C_ENST00000399637.1_Silent_p.T568T|CACNA1C_ENST00000399595.1_Silent_p.T568T|CACNA1C_ENST00000399603.1_Silent_p.T568T|CACNA1C_ENST00000402845.3_Silent_p.T568T|CACNA1C_ENST00000406454.3_Silent_p.T568T|CACNA1C_ENST00000399638.1_Silent_p.T568T|CACNA1C_ENST00000399591.1_Silent_p.T568T|CACNA1C_ENST00000399597.1_Silent_p.T568T|CACNA1C_ENST00000344100.3_Silent_p.T568T|CACNA1C_ENST00000335762.5_Silent_p.T593T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	568					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)			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)	CCCTGTTCACGGCAGAGATGC	0.622																																						ENST00000399655.1																			0				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						c.(1702-1704)acG>acA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						25	29	28					12																	2676769		2158	4282	6440	SO:0001819	synonymous_variant	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.chr12:2676769G>A	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.1704G>A	12.37:g.2676769G>A						CACNA1C_ENST00000399617.1_Silent_p.T568T|CACNA1C_ENST00000335762.5_Silent_p.T593T|CACNA1C_ENST00000399601.1_Silent_p.T568T|CACNA1C_ENST00000399644.1_Silent_p.T568T|CACNA1C_ENST00000399638.1_Silent_p.T568T|CACNA1C_ENST00000399603.1_Silent_p.T568T|CACNA1C_ENST00000399637.1_Silent_p.T568T|CACNA1C_ENST00000399597.1_Silent_p.T568T|CACNA1C_ENST00000480911.1_Silent_p.T568T|CACNA1C_ENST00000399595.1_Silent_p.T568T|CACNA1C_ENST00000344100.3_Silent_p.T568T|CACNA1C_ENST00000402845.3_Silent_p.T568T|CACNA1C_ENST00000406454.3_Silent_p.T568T|CACNA1C_ENST00000399629.1_Silent_p.T568T|CACNA1C_ENST00000399591.1_Silent_p.T568T|CACNA1C_ENST00000347598.4_Silent_p.T568T|CACNA1C_ENST00000399641.1_Silent_p.T568T|CACNA1C_ENST00000399606.1_Silent_p.T568T|CACNA1C_ENST00000399649.1_Silent_p.T568T|CACNA1C_ENST00000399634.1_Silent_p.T568T|CACNA1C_ENST00000399621.1_Silent_p.T568T|CACNA1C_ENST00000327702.7_Silent_p.T568T	p.T568T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	1969	+			568					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	Silent	SNP	ENST00000347598.4	37	c.1704G>A	CCDS44788.1																																																																																				0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	48	0	0	0	1	0	8	48					A	2676769	G	A	2676769	2	1	12	1	0	0	0	0	0	0	0	1	2547	1103	39	1		1	CACNA1C	12	2676769	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		2676769	131175126	153	1436											
CLEC12B	387837	broad.mit.edu	37	chr12	10167245	10167245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacaacttgtccatggAggaggaatttctcaagtcac	8	11	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:10167245A>G	ENST00000338896.5	+	3	442	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Missense_Mutation_p.E105G|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TTGTCCATGGAGGAGGAATTT	0.433																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(313-315)gAg>gGg		C-type lectin domain family 12, member B							101	94	96					12																	10167245		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167245A>G	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.314A>G	12.37:g.10167245A>G	ENSP00000344563:p.Glu105Gly					CLEC12B_ENST00000338896.5_Missense_Mutation_p.E105G	p.E105G	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			3	442	+			105					Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.314A>G	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	A	8.230	0.804408	0.16467	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.56941	0.43;0.43	4.13	2.97	0.34412	C-type lectin fold (1);Ly49-like N-terminal (1);	0.733388	0.11989	N	0.510077	T	0.51126	0.1656	M	0.76328	2.33	0.09310	N	1	B;B	0.19073	0.01;0.033	B;B	0.17433	0.007;0.018	T	0.50906	-0.8772	10	0.72032	D	0.01	.	6.8471	0.23994	0.8876:0.0:0.1124:0.0	.	105;105	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	G	105	ENSP00000379759:E105G;ENSP00000344563:E105G	ENSP00000344563:E105G	E	+	2	0	CLEC12B	10058512	0.765000	0.28485	0.007000	0.13788	0.360000	0.29518	1.306000	0.33505	0.707000	0.31934	0.379000	0.24179	GAG		0.433	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		31	176	0	0	0	1	0	31	176					G	10167245	A	G	10167245	3	3	12	1	0	0	0	0	1	0	0	0	3507	304	11	4	324	4	CLEC12B	12	10167245	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	7490476	10167245	123684650	154	1437											
LRMP	4033	broad.mit.edu	37	chr12	25232196	25232196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaatggtgttgaacgcGtgtgtcctgagagcctgctg	16	7	0	3	rs143325687		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:25232196G>A	ENST00000354454.3	+	6	872	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	LRMP_ENST00000547044.1_Missense_Mutation_p.V15M|LRMP_ENST00000548766.1_Missense_Mutation_p.V15M	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	71					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTTGAACGCGTGTGTCCTGA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		19720	0.0		0.001	False		,,,				2504	0.0					ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(43-45)Gtg>Atg		lymphoid-restricted membrane protein		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	296	267	277		43,43,43	-0.6	0	12	dbSNP_134	277	0,8600		0,0,4300	no	missense,missense,missense	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	15/500,15/500,15/500	25232196	1,13005	2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232196G>A		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.43G>A	12.37:g.25232196G>A	ENSP00000346442:p.Val15Met					LRMP_ENST00000548766.1_Missense_Mutation_p.V15M|LRMP_ENST00000547044.1_Missense_Mutation_p.V15M	p.V15M	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			6	872	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		71					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.43G>A	CCDS8701.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.433	0.849166	0.17034	2.27E-4	0.0	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	4.82	-0.595	0.11660	.	1.506210	0.04099	N	0.312629	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.34104	-0.9842	10	0.42905	T	0.14	1.1135	7.0543	0.25091	0.1448:0.0:0.4851:0.3702	.	71	Q12912	LRMP_HUMAN	M	15	ENSP00000448534:V15M;ENSP00000452116:V15M;ENSP00000346442:V15M;ENSP00000446496:V15M;ENSP00000450634:V15M;ENSP00000450246:V15M	ENSP00000346442:V15M	V	+	1	0	LRMP	25123463	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.007000	0.12810	-0.166000	0.10890	-1.105000	0.02106	GTG		0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		48	398	0	0	0	1	0	48	398					A	25232196	G	A	25232196	3	1	12	1	0	0	0	0	1	0	0	0	8988	1145	40	1	49	1	LRMP	12	25232196	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	15064951	25232196	108619699	155	1438											
C12orf40	283461	broad.mit.edu	37	chr12	40076540	40076540	+	Frame_Shift_Del	DEL	A	A	-													caatacagcatatttgggggAaaaatggaaaggaagtttca							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:40076540delA	ENST00000324616.5	+	8	968	c.814delA	c.(814-816)aaafs	p.K272fs	C12orf40_ENST00000398716.1_Frame_Shift_Del_p.K195fs|C12orf40_ENST00000405531.3_Frame_Shift_Del_p.K272fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	272										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATTTGGGGGAAAAATGGAAA	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(814-816)aafs		chromosome 12 open reading frame 40							136	135	135					12																	40076540		1839	4080	5919	SO:0001589	frameshift_variant	283461							g.chr12:40076540delA	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.814delA	12.37:g.40076540delA	ENSP00000317671:p.Lys272fs					C12orf40_ENST00000405531.3_Frame_Shift_Del_p.K272fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.K195fs	p.K272fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	968	+			272					B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	37	c.814delA	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		7	793						7	793	---	---	---	---	-	40076540	A	-	40076540	7	5	12	1	0	1	0	1	0	0	0	0	1691	247	9	0	844	0	C12orf40	12	40076540	Frame_Shift_Del	DEL	A	TCGA-2J-AABP-01A-11D-A40W-08	14844344	40076540	93775355	156	1439											
PDE1B	5153	broad.mit.edu	37	chr12	54960852	54960852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttctctgctggaagccGtctacatagatgagacacgg	11	11	2	2	rs200096201		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:54960852G>A	ENST00000243052.3	+	3	644	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.V50I|PDE1B_ENST00000538346.1_Missense_Mutation_p.V29I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	70					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCTGGAAGCCGTCTACATAGA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19747	0.0		0.001	False		,,,				2504	0.0					ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(208-210)Gtc>Atc		phosphodiesterase 1B, calmodulin-dependent		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	82	80	81		208,148	4.1	1	12		81	0,8600		0,0,4300	no	missense,missense	PDE1B	NM_000924.3,NM_001165975.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	70/537,50/517	54960852	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54960852G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.208G>A	12.37:g.54960852G>A	ENSP00000243052:p.Val70Ile					PDE1B_ENST00000538346.1_Missense_Mutation_p.V29I|PDE1B_ENST00000550620.1_Missense_Mutation_p.V50I|PDE1B_ENST00000394277.3_3'UTR	p.V70I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			3	644	+			70					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.208G>A	CCDS8882.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.79	2.639096	0.47153	2.27E-4	0.0	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70516	-0.49;-0.44;-0.46	4.08	4.08	0.47627	.	0.160006	0.40728	N	0.001029	T	0.67373	0.2886	L	0.58510	1.815	0.40336	D	0.978986	P;P	0.50156	0.921;0.932	B;B	0.42214	0.38;0.332	T	0.73266	-0.4037	10	0.49607	T	0.09	.	14.5926	0.68378	0.0:0.0:1.0:0.0	.	50;70	Q01064-2;Q01064	.;PDE1B_HUMAN	I	70;29;50	ENSP00000243052:V70I;ENSP00000442559:V29I;ENSP00000448519:V50I	ENSP00000243052:V70I	V	+	1	0	PDE1B	53247119	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.482000	0.81143	2.560000	0.86352	0.561000	0.74099	GTC		0.478	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			10	83	0	0	0	1	0	10	83					A	54960852	G	A	54960852	3	1	12	1	0	0	0	0	1	0	0	0	11676	1145	40	1	271	1	PDE1B	12	54960852	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	14884312	54960852	78891043	157	1440											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	798						7	798	---	---	---	---	-	55615116	CTT	-	55615114	7	5	12	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-2J-AABP-01A-11D-A40W-08	654262	55615114	78236781	158	1441											
STAT2	6773	broad.mit.edu	37	chr12	56742351	56742351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtggtcatgtaccaaCtccagaattttgtccagcca	8	11	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:56742351C>G	ENST00000314128.4	-	19	1709	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E558D			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	562					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CATGTACCAACTCCAGAATTT	0.532																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1684-1686)gaG>gaC		signal transducer and activator of transcription 2, 113kDa							131	107	115					12																	56742351		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742351C>G	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1686G>C	12.37:g.56742351C>G	ENSP00000315768:p.Glu562Asp					STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E558D	p.E562D			P52630	STAT2_HUMAN			19	1709	-			562					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1686G>C	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	4.266	0.048518	0.08243	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.85702	-2.02;-2.02	5.49	-0.801	0.10893	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.578372	0.18226	N	0.147704	T	0.61110	0.2321	N	0.10972	0.075	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.003	T	0.46582	-0.9181	10	0.07030	T	0.85	-11.772	3.3108	0.07016	0.0819:0.3288:0.3011:0.2882	.	558;562	G3V2M6;P52630	.;STAT2_HUMAN	D	562;558	ENSP00000315768:E562D;ENSP00000450751:E558D	ENSP00000315768:E562D	E	-	3	2	STAT2	55028618	0.987000	0.35691	0.989000	0.46669	0.988000	0.76386	0.182000	0.16900	-0.111000	0.12001	-0.136000	0.14681	GAG		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		203	230	0	0	0	1	0	203	230					G	56742351	C	G	56742351	3	3	12	1	0	0	0	0	1	0	0	0	15317	564	20	5	893	5	STAT2	12	56742351	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1127237	56742351	77109544	159	1442											
FRS2	10818	broad.mit.edu	37	chr12	69968596	69968596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaactccccttccacaaaCccctaccaggcgcacagagc	5	19	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:69968596C>T	ENST00000550389.1	+	7	1634	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	FRS2_ENST00000397997.2_Missense_Mutation_p.T463I|FRS2_ENST00000549921.1_Missense_Mutation_p.T463I|FRS2_ENST00000299293.2_Missense_Mutation_p.T463I	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	463					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTTCCACAAACCCCTACCAGG	0.493																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1387-1389)aCc>aTc		fibroblast growth factor receptor substrate 2							95	97	96					12																	69968596		2031	4195	6226	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968596C>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1388C>T	12.37:g.69968596C>T	ENSP00000447241:p.Thr463Ile					FRS2_ENST00000550389.1_Missense_Mutation_p.T463I|FRS2_ENST00000549921.1_Missense_Mutation_p.T463I|FRS2_ENST00000397997.2_Missense_Mutation_p.T463I	p.T463I	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1898	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		463					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1388C>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115497	0.56505	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.17	6.17	0.99709	.	0.060396	0.64402	D	0.000003	T	0.42630	0.1211	L	0.47716	1.5	0.46478	D	0.999069	D	0.69078	0.997	P	0.57911	0.829	T	0.01185	-1.1425	9	.	.	.	-14.2326	20.8794	0.99867	0.0:1.0:0.0:0.0	.	463	Q8WU20	FRS2_HUMAN	I	463	ENSP00000299293:T463I;ENSP00000450048:T463I;ENSP00000447241:T463I;ENSP00000381083:T463I	.	T	+	2	0	FRS2	68254863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.480000	0.66820	2.941000	0.99782	0.655000	0.94253	ACC		0.493	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		5	317	0	0	0	1	0	5	317					T	69968596	C	T	69968596	3	4	12	1	0	0	0	0	1	0	0	0	6088	507	18	2	1406	2	FRS2	12	69968596	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	13226245	69968596	63883299	160	1443											
CDK17	5128	broad.mit.edu	37	chr12	96704950	96704950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgataaccgcttattTaaatccttaaaaaaaaaaaa	5	6	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:96704950T>C	ENST00000261211.3	-	5	1026	c.423A>G	c.(421-423)ttA>ttG	p.L141L	CDK17_ENST00000543119.2_Silent_p.L141L|CDK17_ENST00000542666.1_Silent_p.L88L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	141					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACCGCTTATTTAAATCCTTAA	0.343																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(421-423)ttA>ttG		cyclin-dependent kinase 17							60	61	60					12																	96704950		2203	4300	6503	SO:0001819	synonymous_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96704950T>C		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.423A>G	12.37:g.96704950T>C						CDK17_ENST00000542666.1_Silent_p.L88L|CDK17_ENST00000543119.2_Silent_p.L141L	p.L141L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			5	1026	-			141					A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	c.423A>G	CCDS9061.1																																																																																				0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		18	206	0	0	0	1	0	18	206					C	96704950	T	C	96704950	2	2	12	1	0	0	0	0	0	0	0	1	3142	1751	61	4		4	CDK17	12	96704950	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	26736354	96704950	37146945	161	1444											
TRPV4	59341	broad.mit.edu	37	chr12	110230501	110230501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtcagcttcagcccacGggtgaagtaaagggcattca	11	13	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:110230501G>A	ENST00000418703.2	-	10	1874	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	TRPV4_ENST00000537083.1_Missense_Mutation_p.R534C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	594			R -> H (in SMDK and PSTD). {ECO:0000269|PubMed:19232556, ECO:0000269|PubMed:20503319, ECO:0000269|PubMed:20577006}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTCAGCCCACGGGTGAAGTAA	0.597																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1780-1782)Cgt>Tgt		transient receptor potential cation channel, subfamily V, member 4							90	72	78					12																	110230501		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230501G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1780C>T	12.37:g.110230501G>A	ENSP00000406191:p.Arg594Cys					TRPV4_ENST00000536838.1_Missense_Mutation_p.R560C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534C	p.R594C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1874	-			594		R -> H (in SMDK and PSTD).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1780C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258837	0.80246	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	6.06	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	D	0.95105	0.8233	10	0.87932	D	0	-6.0622	13.3942	0.60840	0.0:0.0:0.7137:0.2863	.	534;594;487;547;560	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	594;594;547;534;487;534;547;560	ENSP00000406191:R594C;ENSP00000261740:R594C;ENSP00000376480:R547C;ENSP00000319003:R534C;ENSP00000443611:R487C;ENSP00000442738:R534C;ENSP00000442167:R547C;ENSP00000444336:R560C	ENSP00000261740:R594C	R	-	1	0	TRPV4	108714884	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	2.762000	0.47597	1.531000	0.49152	0.650000	0.86243	CGT		0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		37	135	0	0	0	1	0	37	135					A	110230501	G	A	110230501	3	1	12	1	0	0	0	0	1	0	0	0	16651	1116	39	1	859	1	TRPV4	12	110230501	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	13525551	110230501	23621394	162	1445											
FREM2	341640	broad.mit.edu	37	chr13	39446905	39446905	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacctagtgcagtcctatgtGacccttcgagtccctctgta	8	13	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr13:39446905G>A	ENST00000280481.7	+	17	8226	c.8010G>A	c.(8008-8010)gtG>gtA	p.V2670V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2670					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCCTATGTGACCCTTCGAG	0.443																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8008-8010)gtG>gtA		FRAS1 related extracellular matrix protein 2							164	154	158					13																	39446905		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446905G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8010G>A	13.37:g.39446905G>A							p.V2670V	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8226	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2670					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8010G>A	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		6	266	0	0	0	1	0	6	266					A	39446905	G	A	39446905	2	1	12	1	0	0	0	0	0	0	0	1	6072	1277	45	2		2	FREM2	13	39446905	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		39446905	75722973	163	1446											
TM9SF2	9375	broad.mit.edu	37	chr13	100169875	100169875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttattttcaggccgaaaTagaactatttgtgaacagac	7	8	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr13:100169875T>C	ENST00000376387.4	+	2	369	c.179T>C	c.(178-180)aTa>aCa	p.I60T	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	60					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CAGGCCGAAATAGAACTATTT	0.313																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(178-180)aTa>aCa		transmembrane 9 superfamily member 2							91	87	88					13																	100169875		2203	4296	6499	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100169875T>C	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.179T>C	13.37:g.100169875T>C	ENSP00000365567:p.Ile60Thr					TM9SF2_ENST00000463709.1_3'UTR	p.I60T	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			2	369	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		60					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.179T>C	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241564	0.79912	.	.	ENSG00000125304	ENST00000376387	T	0.49432	0.78	6.06	6.06	0.98353	.	0.039037	0.85682	D	0.000000	T	0.69070	0.3070	M	0.84773	2.715	0.80722	D	1	D;P	0.56287	0.975;0.914	P;P	0.58210	0.835;0.641	T	0.74771	-0.3552	10	0.87932	D	0	-24.6443	16.2708	0.82618	0.0:0.0:0.0:1.0	.	60;60	E9PHW5;Q99805	.;TM9S2_HUMAN	T	60	ENSP00000365567:I60T	ENSP00000365567:I60T	I	+	2	0	TM9SF2	98967876	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	6.305000	0.72805	2.324000	0.78689	0.533000	0.62120	ATA		0.313	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			5	284	0	0	0	1	0	5	284					C	100169875	T	C	100169875	3	2	12	1	0	0	0	0	1	0	0	0	16030	1406	49	4	185	4	TM9SF2	13	100169875	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	60722970	100169875	15000003	164	1447											
OR4N5	390437	broad.mit.edu	37	chr14	20612452	20612452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttccacaggtcatcaaGctggcctgcaccaatacctt	8	13	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:20612452G>A	ENST00000333629.1	+	1	558	c.558G>A	c.(556-558)aaG>aaA	p.K186K	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGGTCATCAAGCTGGCCTGCA	0.522																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(556-558)aaG>aaA		olfactory receptor, family 4, subfamily N, member 5							111	94	99					14																	20612452		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612452G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.558G>A	14.37:g.20612452G>A							p.K186K	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	558	+	all_cancers(95;0.00108)		186					Q6IF11	Silent	SNP	ENST00000333629.1	37	c.558G>A	CCDS32031.1																																																																																				0.522	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			252	168	0	0	0	1	0	252	168					A	20612452	G	A	20612452	2	1	12	1	0	0	0	0	0	0	0	1	11121	962	34	2		2	OR4N5	14	20612452	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		20612452	86737088	165	1448											
STXBP6	29091	broad.mit.edu	37	chr14	25325188	25325188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaactctggcttcctgtcCgtgaggtacctctggcaggt	11	11	2	1	rs373624807		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:25325188C>T	ENST00000323944.5	-	4	856	c.405G>A	c.(403-405)acG>acA	p.T135T	STXBP6_ENST00000419632.2_Silent_p.T135T|STXBP6_ENST00000358326.2_Silent_p.T135T|STXBP6_ENST00000396700.1_Silent_p.T135T|STXBP6_ENST00000546511.1_Silent_p.T135T|STXBP6_ENST00000550887.1_Silent_p.T135T|STXBP6_ENST00000548724.1_Silent_p.T135T			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	135					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GCTTCCTGTCCGTGAGGTACC	0.443																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(403-405)acG>acA		syntaxin binding protein 6 (amisyn)		T		1,4405	826.1+/-416.6	0,1,2202	132	117	122		405	-10.4	0.4	14		122	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	STXBP6	NM_014178.6		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		135/211	25325188	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25325188C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.405G>A	14.37:g.25325188C>T						STXBP6_ENST00000550887.1_Silent_p.T135T|STXBP6_ENST00000396700.1_Silent_p.T135T|STXBP6_ENST00000548724.1_Silent_p.T135T|STXBP6_ENST00000419632.2_Silent_p.T135T|STXBP6_ENST00000546511.1_Silent_p.T135T|STXBP6_ENST00000358326.2_Silent_p.T135T	p.T135T			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	4	856	-			135					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Silent	SNP	ENST00000323944.5	37	c.405G>A	CCDS9634.1																																																																																				0.443	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			24	282	0	0	0	1	0	24	282					T	25325188	C	T	25325188	2	4	12	1	0	0	0	0	0	0	0	1	15410	639	23	1		1	STXBP6	14	25325188	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4712736	25325188	82024352	166	1449											
SEL1L	6400	broad.mit.edu	37	chr14	81952666	81952666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctgcattgctttgtgCcacttcatagccctgttcag	9	11	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:81952666C>T	ENST00000336735.4	-	17	1881	c.1765G>A	c.(1765-1767)Gca>Aca	p.A589T		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	589	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A589T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTGCTTTGTGCCACTTCATAG	0.428																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.A589T(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1765-1767)Gca>Aca		sel-1 suppressor of lin-12-like (C. elegans)							252	255	254					14																	81952666		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81952666C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1765G>A	14.37:g.81952666C>T	ENSP00000337053:p.Ala589Thr						p.A589T	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	17	1881	-			589			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1765G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646842	0.96714	.	.	ENSG00000071537	ENST00000336735	T	0.62232	0.04	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	589	Q9UBV2	SE1L1_HUMAN	T	589	ENSP00000337053:A589T	ENSP00000337053:A589T	A	-	1	0	SEL1L	81022419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.476000	0.81055	2.813000	0.96785	0.561000	0.74099	GCA		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		8	1295	0	0	0	1	0	8	1295					T	81952666	C	T	81952666	3	4	12	1	0	0	0	0	1	0	0	0	14060	739	26	2	639	2	SEL1L	14	81952666	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	56627478	81952666	25396874	167	1450											
PTPN21	11099	broad.mit.edu	37	chr14	88967194	88967194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagacacgctccaatggAtatgtcacttccttggctat	7	11	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:88967194A>C	ENST00000556564.1	-	8	981	c.697T>G	c.(697-699)Tcc>Gcc	p.S233A	PTPN21_ENST00000328736.3_Missense_Mutation_p.S233A|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	233	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTCCAATGGATATGTCACTT	0.423																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(697-699)Tcc>Gcc		protein tyrosine phosphatase, non-receptor type 21							147	134	138					14																	88967194		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88967194A>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.697T>G	14.37:g.88967194A>C	ENSP00000452414:p.Ser233Ala					RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S233A|PTPN21_ENST00000554628.1_5'UTR	p.S233A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			8	981	-			233			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.697T>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675520	0.29783	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.86432	-2.12;-2.12	5.82	3.45	0.39498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.641535	0.15753	N	0.246337	T	0.76176	0.3951	N	0.19112	0.55	0.24694	N	0.99329	B	0.21071	0.051	B	0.24541	0.054	T	0.60281	-0.7294	10	0.22109	T	0.4	.	8.273	0.31855	0.7963:0.1343:0.0694:0.0	.	233	Q16825	PTN21_HUMAN	A	233	ENSP00000330276:S233A;ENSP00000452414:S233A	ENSP00000330276:S233A	S	-	1	0	PTPN21	88036947	0.991000	0.36638	0.961000	0.40146	0.418000	0.31294	1.810000	0.38932	0.452000	0.26830	0.533000	0.62120	TCC		0.423	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			10	406	0	0	0	1	0	10	406					C	88967194	A	C	88967194	3	2	12	1	0	0	0	0	1	0	0	0	12836	333	12	4	2875	4	PTPN21	14	88967194	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	7014528	88967194	18382346	168	1451											
PPP1R13B	23368	broad.mit.edu	37	chr14	104245101	104245101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccattttcagtacgttttTctccaggtacatttattaca	4	11	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:104245101T>C	ENST00000202556.9	-	4	617	c.335A>G	c.(334-336)gAa>gGa	p.E112G		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	112				E -> D (in Ref. 1; CAC83011). {ECO:0000305}.	intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGTACGTTTTTCTCCAGGTAC	0.388																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(334-336)gAa>gGa		protein phosphatase 1, regulatory subunit 13B							171	159	163					14																	104245101		1842	4099	5941	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104245101T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.335A>G	14.37:g.104245101T>C	ENSP00000202556:p.Glu112Gly						p.E112G	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			4	617	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	112	E -> D (in Ref. 1; CAC83011).				B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.335A>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424553	0.62733	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	D;T	0.86230	-2.09;1.59	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	T	0.80433	0.4622	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76702	-0.2862	10	0.87932	D	0	.	14.4774	0.67557	0.0:0.0:0.0:1.0	.	112	Q96KQ4	ASPP1_HUMAN	G	112;109;141	ENSP00000202556:E112G;ENSP00000452376:E109G	ENSP00000202556:E112G	E	-	2	0	PPP1R13B	103314854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.975000	0.70475	2.291000	0.77112	0.533000	0.62120	GAA		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		37	298	0	0	0	1	0	37	298					C	104245101	T	C	104245101	3	2	12	1	0	0	0	0	1	0	0	0	12404	1783	62	4	2993	4	PPP1R13B	14	104245101	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	15277907	104245101	3104439	169	1452											
APBA2	321	broad.mit.edu	37	chr15	29346935	29346935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgaggcgaggcccaagtCgctgaacctccttcccgagg	13	15	0	1	rs199985120		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:29346935C>T	ENST00000558402.1	+	5	1447	c.848C>T	c.(847-849)tCg>tTg	p.S283L	APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	283					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S283L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGCCCAAGTCGCTGAACCTC	0.672																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.S283L(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(847-849)tCg>tTg		amyloid beta (A4) precursor protein-binding, family A, member 2							22	25	24					15																	29346935		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346935C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.848C>T	15.37:g.29346935C>T	ENSP00000453293:p.Ser283Leu					APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L	p.S283L			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1447	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	283					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.848C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746657	0.89663	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60424	0.19	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.74898	0.3777	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.943;0.995;0.943	T	0.75880	-0.3161	10	0.45353	T	0.12	.	17.2277	0.86975	0.0:1.0:0.0:0.0	.	283;283;283	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	L	283	ENSP00000409312:S283L	ENSP00000219865:S283L	S	+	2	0	APBA2	27134227	1.000000	0.71417	0.973000	0.42090	0.897000	0.52465	5.469000	0.66749	2.280000	0.76307	0.650000	0.86243	TCG		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		13	72	0	0	0	1	0	13	72					T	29346935	C	T	29346935	3	4	12	1	0	0	0	0	1	0	0	0	757	893	31	1	850	1	APBA2	15	29346935	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		29346935	73184457	170	1453											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	620						9	620	---	---	---	---	-	34393993	AGC	-	34393991	7	5	12	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AABP-01A-11D-A40W-08	5047056	34393991	68137401	171	1454											
MNS1	55329	broad.mit.edu	37	chr15	56735721	56735721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttgccgcagcatttcttcTaatttctgtgtcaactatta	6	10	4	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:56735721T>C	ENST00000260453.3	-	7	1082	c.918A>G	c.(916-918)ttA>ttG	p.L306L	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	306	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GCATTTCTTCTAATTTCTGTG	0.289																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(916-918)ttA>ttG		meiosis-specific nuclear structural 1							89	84	86					15																	56735721		2192	4291	6483	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56735721T>C	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.918A>G	15.37:g.56735721T>C						TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.L306L	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	7	1082	-			306			Glu-rich.		Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.918A>G	CCDS10158.1																																																																																				0.289	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		19	261	0	0	0	1	0	19	261					C	56735721	T	C	56735721	2	2	12	1	0	0	0	0	0	0	0	1	9718	1519	53	4		4	MNS1	15	56735721	Silent	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	22341730	56735721	45795671	172	1455											
MYO1E	4643	broad.mit.edu	37	chr15	59519753	59519753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctttccaccatctggttCcccacctggactgaactgga	8	14	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:59519753C>T	ENST00000288235.4	-	7	946	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	183	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCATCTGGTTCCCCACCTGGA	0.438																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(547-549)Gaa>Aaa		myosin IE							117	113	115					15																	59519753		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519753C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.547G>A	15.37:g.59519753C>T	ENSP00000288235:p.Glu183Lys					MYO1E_ENST00000558814.1_5'UTR	p.E183K	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	946	-			183			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.547G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	37	6.031298	0.97221	.	.	ENSG00000157483	ENST00000288235	D	0.86769	-2.17	6.02	6.02	0.97574	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	L	0.33485	1.01	0.80722	D	1	P	0.46142	0.873	P	0.56088	0.791	D	0.89514	0.3773	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	183	Q12965	MYO1E_HUMAN	K	183	ENSP00000288235:E183K	ENSP00000288235:E183K	E	-	1	0	MYO1E	57307045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GAA		0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		40	446	0	0	0	1	0	40	446					T	59519753	C	T	59519753	3	4	12	1	0	0	0	0	1	0	0	0	10113	864	30	2	2867	2	MYO1E	15	59519753	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2784032	59519753	43011639	173	1456											
TLN2	83660	broad.mit.edu	37	chr15	62948259	62948259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagattcgagagaccccGtgcagctgaacttgctttat	10	9	0	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:62948259G>A	ENST00000561311.1	+	7	864	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	TLN2_ENST00000306829.6_Missense_Mutation_p.V212M			Q9Y4G6	TLN2_HUMAN	talin 2	212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAGAGACCCCGTGCAGCTGAA	0.463																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(634-636)Gtg>Atg		talin 2							110	93	99					15																	62948259		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62948259G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.634G>A	15.37:g.62948259G>A	ENSP00000453508:p.Val212Met					TLN2_ENST00000306829.6_Missense_Mutation_p.V212M	p.V212M			Q9Y4G6	TLN2_HUMAN			7	864	+			212			FERM.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.634G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053664	0.93793	.	.	ENSG00000171914	ENST00000306829	D	0.81659	-1.52	5.47	5.47	0.80525	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.90454	0.4441	10	0.49607	T	0.09	-21.5147	18.6826	0.91551	0.0:0.0:1.0:0.0	.	212	Q9Y4G6	TLN2_HUMAN	M	212	ENSP00000303476:V212M	ENSP00000303476:V212M	V	+	1	0	TLN2	60735551	1.000000	0.71417	0.962000	0.40283	0.941000	0.58515	9.803000	0.99136	2.723000	0.93209	0.655000	0.94253	GTG		0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			36	288	0	0	0	1	0	36	288					A	62948259	G	A	62948259	3	1	12	1	0	0	0	0	1	0	0	0	16000	1145	40	1	652	1	TLN2	15	62948259	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	3428506	62948259	39583133	174	1457											
HERC1	8925	broad.mit.edu	37	chr15	63915945	63915945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacatctctgtgatggtGtcatcaaacactcctccagc	8	13	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:63915945G>A	ENST00000443617.2	-	73	13677	c.13590C>T	c.(13588-13590)gaC>gaT	p.D4530D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4530	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGTGATGGTGTCATCAAACA	0.512																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13588-13590)gaC>gaT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							122	123	123					15																	63915945		2067	4227	6294	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63915945G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13590C>T	15.37:g.63915945G>A							p.D4530D	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			73	13677	-			4530			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.13590C>T	CCDS45277.1																																																																																				0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		9	747	0	0	0	1	0	9	747					A	63915945	G	A	63915945	2	1	12	1	0	0	0	0	0	0	0	1	7087	1368	48	2		2	HERC1	15	63915945	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	967686	63915945	38615447	175	1458											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	160						9	160	---	---	---	---	-	65943130	GAG	-	65943128	7	5	12	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-2J-AABP-01A-11D-A40W-08	2027183	65943128	36588264	176	1459											
CCDC64B	146439	broad.mit.edu	37	chr16	3079353	3079353	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggactgagggatgttcgcttCttggggggctctaagatctc	15	8	3	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:3079353C>T	ENST00000572449.1	-	7	1097	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC64B_ENST00000573514.1_Silent_p.K138K|CCDC64B_ENST00000389347.4_Silent_p.K345K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	345										breast(1)|endometrium(2)|large_intestine(1)	4						ATGTTCGCTTCTTGGGGGGCT	0.607																																						ENST00000573514.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(412-414)aaG>aaA		coiled-coil domain containing 64B							47	44	45					16																	3079353		1980	4167	6147	SO:0001819	synonymous_variant	146439							g.chr16:3079353C>T	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1035G>A	16.37:g.3079353C>T						CCDC64B_ENST00000389347.4_Silent_p.K345K|CCDC64B_ENST00000572449.1_Silent_p.K345K	p.K138K			A1A5D9	BICR2_HUMAN			5	2604	-			345					Q658L9	Silent	SNP	ENST00000572449.1	37	c.414G>A	CCDS45393.1																																																																																				0.607	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			4	67	0	0	0	1	0	4	67					T	3079353	C	T	3079353	2	4	12	1	0	0	0	0	0	0	0	1	2843	912	32	2		2	CCDC64B	16	3079353	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		3079353	87275400	177	1460											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		11	2761						11	2761	---	---	---	---	-	28734581	GAG	-	28734579	7	5	12	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-2J-AABP-01A-11D-A40W-08	25655226	28734579	61620174	178	1461											
ZFHX3	463	broad.mit.edu	37	chr16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-													cacgccaggcagtggtacgaGccgccgccgccgccgccgcc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		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)			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)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				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						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	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.chr16:72821594_72821596delGCC	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.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.69	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	358						14	358	---	---	---	---	-	72821596	GCC	-	72821594	7	5	12	1	0	1	0	1	0	0	0	0	17687	958	34	0	534	0	ZFHX3	16	72821594	In_Frame_Del	DEL	GCC	TCGA-2J-AABP-01A-11D-A40W-08	44087015	72821594	17533159	179	1462											
SMG6	23293	broad.mit.edu	37	chr17	2195869	2195869	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacactgccagcaaagccaActggttataggggcgcccat	10	12	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:2195869A>G	ENST00000263073.6	-	6	2364	c.2314T>C	c.(2314-2316)Ttg>Ctg	p.L772L	SMG6_ENST00000544865.1_Silent_p.L741L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	772					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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGCAAAGCCAACTGGTTATAG	0.438																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2221-2223)Ttg>Ctg		SMG6 nonsense mediated mRNA decay factor							125	131	129					17																	2195869		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2195869A>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2314T>C	17.37:g.2195869A>G						SMG6_ENST00000263073.5_Silent_p.L772L	p.L741L			Q86US8	EST1A_HUMAN			6	2731	-			772					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2221T>C	CCDS11016.1																																																																																				0.438	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			8	785	0	0	0	1	0	8	785					G	2195869	A	G	2195869	2	3	12	1	0	0	0	0	0	0	0	1	14847	40	2	4		4	SMG6	17	2195869	Silent	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08		2195869	78999341	180	1463											
OR1A2	26189	broad.mit.edu	37	chr17	3101038	3101038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacatcatcttctcatccGtaaccatccctaaggtgctg	6	13	3	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:3101038G>A	ENST00000381951.1	+	1	226	c.226G>A	c.(226-228)Gta>Ata	p.V76I		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	76					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76I(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTCATCCGTAACCATCCC	0.488																																						ENST00000381951.1																			1	Substitution - Missense(1)	p.V76I(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(226-228)Gta>Ata		olfactory receptor, family 1, subfamily A, member 2							220	186	198					17																	3101038		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101038G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.226G>A	17.37:g.3101038G>A	ENSP00000371377:p.Val76Ile						p.V76I	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	226	+			76					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.226G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817419	0.16607	.	.	ENSG00000172150	ENST00000381951	T	0.00475	7.16	4.09	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000419	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999998	D	0.54964	0.969	B	0.38264	0.269	T	0.54675	-0.8258	10	0.87932	D	0	.	8.4274	0.32737	0.196:0.0:0.804:0.0	.	76	Q9Y585	OR1A2_HUMAN	I	76	ENSP00000371377:V76I	ENSP00000371377:V76I	V	+	1	0	OR1A2	3047788	0.000000	0.05858	0.899000	0.35326	0.007000	0.05969	0.476000	0.22180	1.071000	0.40834	-0.199000	0.12753	GTA		0.488	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		8	780	0	0	0	1	0	8	780					A	3101038	G	A	3101038	3	1	12	1	0	0	0	0	1	0	0	0	10992	1145	40	1	228	1	OR1A2	17	3101038	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	905169	3101038	78094172	181	1464											
ARRB2	409	broad.mit.edu	37	chr17	4621608	4621608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgtccacgtcaccaacaactCcaccaagaccgtcaagaaga	6	15	2	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:4621608C>G	ENST00000269260.2	+	9	907	c.674C>G	c.(673-675)tCc>tGc	p.S225C	ARRB2_ENST00000571206.1_Missense_Mutation_p.S33C|ARRB2_ENST00000572457.1_Missense_Mutation_p.S33C|ARRB2_ENST00000574954.1_Missense_Mutation_p.S33C|ARRB2_ENST00000346341.2_Missense_Mutation_p.S210C|ARRB2_ENST00000412477.3_Missense_Mutation_p.S246C|ARRB2_ENST00000381488.6_Missense_Mutation_p.S210C|ARRB2_ENST00000575877.1_Missense_Mutation_p.S225C	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	225					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCAACAACTCCACCAAGACC	0.537																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(673-675)tCc>tGc		arrestin, beta 2							89	85	86					17																	4621608		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4621608C>G		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.674C>G	17.37:g.4621608C>G	ENSP00000269260:p.Ser225Cys					ARRB2_ENST00000381488.6_Missense_Mutation_p.S210C|ARRB2_ENST00000575877.1_Missense_Mutation_p.S225C|ARRB2_ENST00000571206.1_Missense_Mutation_p.S33C|ARRB2_ENST00000412477.3_Missense_Mutation_p.S246C|ARRB2_ENST00000574954.1_Missense_Mutation_p.S33C|ARRB2_ENST00000346341.2_Missense_Mutation_p.S210C|ARRB2_ENST00000572457.1_Missense_Mutation_p.S33C	p.S225C	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			9	907	+			225					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.674C>G	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424706	0.83667	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23950	1.88;1.88	4.03	4.03	0.46877	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.112316	0.64402	D	0.000007	T	0.54175	0.1842	M	0.85945	2.785	0.80722	D	1	P;D;D;D;D	0.89917	0.925;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.85;0.996;0.998;0.989;0.997	T	0.63014	-0.6731	10	0.87932	D	0	-20.3777	14.026	0.64586	0.0:1.0:0.0:0.0	.	246;210;225;210;225	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	C	225;225;210;226	ENSP00000269260:S225C;ENSP00000341895:S210C	ENSP00000269260:S225C	S	+	2	0	ARRB2	4568357	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.720000	0.68470	2.247000	0.74100	0.561000	0.74099	TCC		0.537	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		80	43	0	0	0	1	0	80	43					G	4621608	C	G	4621608	3	3	12	1	0	0	0	0	1	0	0	0	982	855	30	5	708	5	ARRB2	17	4621608	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1520570	4621608	76573602	182	1465											
ZNF207	7756	broad.mit.edu	37	chr17	30678932	30678932	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagctattcattgcatgcagGtaaggatttttcttctgtat	8	6	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:30678932G>T	ENST00000321233.6	+	2	322		c.e2+1		RP11-227G15.3_ENST00000581915.1_RNA|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000394673.2_Splice_Site|ZNF207_ENST00000342555.6_Splice_Site	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207						attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGCATGCAGGTAAGGATTTT	0.348																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.e2+1		zinc finger protein 207							84	79	81					17																	30678932		2203	4300	6503	SO:0001630	splice_region_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30678932G>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.168+1G>T	17.37:g.30678932G>T						ZNF207_ENST00000321233.6_Splice_Site|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Splice_Site|ZNF207_ENST00000394673.2_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA		NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	337	+		Breast(31;0.116)|Ovarian(249;0.182)						A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Splice_Site	SNP	ENST00000321233.6	37		CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369485	0.82463	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7036	0.88302	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF207	27703045	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.249000	0.74217	0.655000	0.94253	.		0.348	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2		Intron	5	237	1	0	1.23904e-05	1	1.30018e-05	5	237					T	30678932	G	T	30678932	5	4	12	1	0	0	0	0	0	0	1	0	17818	1275	44	3	175	3	ZNF207	17	30678932	Splice_Site	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	26057324	30678932	50516278	183	1466											
ARL17A	474170	broad.mit.edu	37	chr17	44594556	44594556	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgtgccggtgaccccGcataatttcttgatgaattg	9	9	2	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:44594556G>A	ENST00000576629.1	+	3	3104				ARL17A_ENST00000329240.4_Silent_p.C101C|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000337845.7_Missense_Mutation_p.A190V|LRRC37A2_ENST00000333412.3_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CGGTGACCCCGCATAATTTCT	0.413																																						ENST00000337845.7																			0				lung(1)	1						c.(568-570)gCg>gTg		ADP-ribosylation factor-like 17A																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594556G>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-172G>A	17.37:g.44594556G>A						LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000329240.4_Silent_p.C101C	p.A190V			Q8IVW1	ARL17_HUMAN			5	707	-			0					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.569C>T	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.396455|1.396455	0.25205|0.25205	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000337845|ENST00000358484	T|.	0.62639|.	0.01|.	2.51|2.51	0.0229|0.0229	0.14135|0.14135	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	6|5	0.87932|0.87932	D|D	0|0	.|.	4.7532|4.7532	0.13071|0.13071	0.6779:0.0:0.3221:0.0|0.6779:0.0:0.3221:0.0	.|.	.|.	.|.	.|.	V|W	190|125	ENSP00000338611:A190V|.	ENSP00000338611:A190V|ENSP00000351272:R125W	A|R	-|-	2|1	0|2	ARL17A|ARL17A	41949872|41949872	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	-0.566000|-0.566000	0.05922|0.05922	-0.011000|-0.011000	0.14247|0.14247	0.175000|0.175000	0.17021|0.17021	GCG|CGG		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		7	774	0	0	0	1	0	7	774					A	44594556	G	A	44594556	1	1	12	0	1	0	0	0	0	0	0	0	933	1079	38	1		1	ARL17A	17	44594556	Intron	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	13915624	44594556	36600654	184	1467											
PPM1E	4591	broad.mit.edu	37	chr17	57057995	57057995	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcctgaatggagtggtgctgGagagtttcccactgctttca	13	9	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:57057995G>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.G624A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTGGTGCTGGAGAGTTTCCC	0.423									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1870-1872)gGa>gCa		protein phosphatase, Mg2+/Mn2+ dependent, 1E							133	134	134					17																	57057995		2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057995G>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057995G>C							p.G624A	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	2000	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		633					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	c.1871G>C	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297302	0.23650	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.17691	2.26	5.58	5.58	0.84498	.	0.826265	0.11229	N	0.585811	T	0.11707	0.0285	N	0.19112	0.55	0.27815	N	0.942	B;P	0.40731	0.206;0.728	B;B	0.36092	0.085;0.217	T	0.07888	-1.0749	10	0.46703	T	0.11	-2.8814	10.0884	0.42432	0.1491:0.0:0.8509:0.0	.	633;624	Q8WY54-3;Q8WY54-2	.;.	A	624;475	ENSP00000312411:G624A	ENSP00000312411:G624A	G	+	2	0	PPM1E	54412777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.518000	0.35877	2.639000	0.89480	0.491000	0.48974	GGA		0.423	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		5	573	0	0	0	1	0	5	573					C	57057995	G	C	57057995	1	2	12	0	1	0	0	0	0	0	0	0	12385	1174	41	5		5	PPM1E	17	57057995	IGR	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	12463439	57057995	24137215	185	1468											
FDXR	2232	broad.mit.edu	37	chr17	72860052	72860052	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccggccctccacattgggGatgaccccaagcttggagtc	11	15	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:72860052G>A	ENST00000293195.5	-	10	1218	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	FDXR_ENST00000581530.1_Silent_p.I386I|FDXR_ENST00000420580.2_Silent_p.I340I|FDXR_ENST00000455107.2_Missense_Mutation_p.S363F|FDXR_ENST00000442102.2_Silent_p.I423I|FDXR_ENST00000544854.1_Silent_p.I328I|FDXR_ENST00000413947.2_Silent_p.I411I|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Silent_p.I352I|FDXR_ENST00000582944.1_Silent_p.I372I|GRIN2C_ENST00000578159.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	380					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCACATTGGGGATGACCCCAA	0.587																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1087-1089)tCc>tTc		ferredoxin reductase							100	96	97					17																	72860052		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860052G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1140C>T	17.37:g.72860052G>A						FDXR_ENST00000413947.2_Silent_p.I411I|FDXR_ENST00000581530.1_Silent_p.I386I|FDXR_ENST00000583917.1_Silent_p.I352I|FDXR_ENST00000582944.1_Silent_p.I372I|FDXR_ENST00000544854.1_Silent_p.I328I|FDXR_ENST00000420580.2_Silent_p.I340I|FDXR_ENST00000293195.5_Silent_p.I380I|FDXR_ENST00000442102.2_Silent_p.I423I	p.S363F			P22570	ADRO_HUMAN			10	1504	-	all_lung(278;0.172)|Lung NSC(278;0.207)		0					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1088C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953623	0.34471	.	.	ENSG00000161513	ENST00000455107	T	0.17213	2.29	4.29	1.15	0.20763	.	.	.	.	.	T	0.21921	0.0528	.	.	.	0.24306	N	0.995106	.	.	.	.	.	.	T	0.17623	-1.0363	6	0.87932	D	0	-10.5751	9.0312	0.36260	0.2489:0.0:0.7511:0.0	.	.	.	.	F	363	ENSP00000390875:S363F	ENSP00000390875:S363F	S	-	2	0	FDXR	70371647	0.803000	0.28956	0.997000	0.53966	0.961000	0.63080	-0.161000	0.10026	0.002000	0.14630	-0.258000	0.10820	TCC		0.587	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		60	606	0	0	0	1	0	60	606					A	72860052	G	A	72860052	2	1	12	1	0	0	0	0	0	0	0	1	5832	1164	41	2		2	FDXR	17	72860052	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	15802057	72860052	8335158	186	1469											
ZNF519	162655	broad.mit.edu	37	chr18	14105287	14105287	+	Missense_Mutation	SNP	G	G	A													tctctgatgttgagtaaggtGtgaagctctgttaaaagctt							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:14105287G>A	ENST00000590202.1	-	3	1404	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	418					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAGTAAGGTGTGAAGCTCTG	0.408																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1252-1254)Cac>Tac		zinc finger protein 519							85	84	84					18																	14105287		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105287G>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1252C>T	18.37:g.14105287G>A	ENSP00000464872:p.His418Tyr					ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.H418Y	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1404	-			418						Missense_Mutation	SNP	ENST00000590202.1	37	c.1252C>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.342498	0.00222	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	L	0.35723	1.085	0.09310	N	1	P	0.39424	0.673	B	0.18871	0.023	T	0.28996	-1.0026	8	0.06891	T	0.86	.	5.203	0.15275	0.0:0.0:0.6655:0.3344	.	418	Q8TB69	ZN519_HUMAN	Y	418	.	ENSP00000307908:H418Y	H	-	1	0	ZNF519	14095287	0.000000	0.05858	0.014000	0.15608	0.512000	0.34134	-9.502000	0.00011	-0.351000	0.08249	0.089000	0.15464	CAC		0.408	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	478	0	0	0	1	0	6	478					A	14105287	G	A	14105287	3	1	12	1	0	0	0	0	1	0	0	0	18017	1377	48	2	374	2	ZNF519	18	14105287	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		14105287	63971961	187	1470	12	2									
ZNF519	162655	broad.mit.edu	37	chr18	14105291	14105291	+	Silent	SNP	A	A	G													tgatgttgagtaaggtgtgaAgctctgttaaaagctttgcc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:14105291A>G	ENST00000590202.1	-	3	1400	c.1248T>C	c.(1246-1248)gcT>gcC	p.A416A	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	416					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAGGTGTGAAGCTCTGTTAA	0.413																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1246-1248)gcT>gcC		zinc finger protein 519							86	86	86					18																	14105291		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105291A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1248T>C	18.37:g.14105291A>G						ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.A416A	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1400	-			416						Silent	SNP	ENST00000590202.1	37	c.1248T>C	CCDS32797.1																																																																																				0.413	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	475	0	0	0	1	0	6	475					G	14105291	A	G	14105291	2	3	12	1	0	0	0	0	0	0	0	1	18017	59	3	4		4	ZNF519	18	14105291	Silent	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	4	14105291	63971957	188	1471	12	2									
ABHD3	171586	broad.mit.edu	37	chr18	19283559	19283559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacttcctgtactgcacCgggggcttcgaagtgatgaa	11	10	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:19283559C>T	ENST00000289119.2	-	2	451	c.312G>A	c.(310-312)ccG>ccA	p.P104P	ABHD3_ENST00000580981.1_Silent_p.P104P|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	104						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TGTACTGCACCGGGGGCTTCG	0.483																																						ENST00000289119.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(310-312)ccG>ccA		abhydrolase domain containing 3							86	77	80					18																	19283559		2203	4300	6503	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19283559C>T	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.312G>A	18.37:g.19283559C>T						ABHD3_ENST00000580981.1_Silent_p.P104P|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	p.P104P	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN			2	451	-			104					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.312G>A	CCDS32802.1																																																																																				0.483	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			229	186	0	0	0	1	0	229	186					T	19283559	C	T	19283559	2	4	12	1	0	0	0	0	0	0	0	1	83	639	23	1		1	ABHD3	18	19283559	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	5178268	19283559	58793689	189	1472											
KLHL14	57565	broad.mit.edu	37	chr18	30349623	30349623	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgctggccaggctcTgcctgcagtgctgcctgaag	12	15	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:30349623T>A	ENST00000359358.4	-	2	1370	c.932A>T	c.(931-933)cAg>cTg	p.Q311L	AC012123.1_ENST00000426194.1_5'Flank|KLHL14_ENST00000358095.4_Missense_Mutation_p.Q311L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	311						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGCCAGGCTCTGCCTGCAGTG	0.647																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(931-933)cAg>cTg		kelch-like family member 14							38	40	39					18																	30349623		2194	4287	6481	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349623T>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.932A>T	18.37:g.30349623T>A	ENSP00000352314:p.Gln311Leu					KLHL14_ENST00000358095.4_Missense_Mutation_p.Q311L	p.Q311L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1370	-			311					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.932A>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	t	12.04	1.818789	0.32145	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.79247	-0.95;-1.25	5.16	5.16	0.70880	Galactose oxidase, beta-propeller (1);	0.259912	0.41712	D	0.000839	T	0.79941	0.4533	M	0.84948	2.725	0.52099	D	0.999949	B	0.12013	0.005	B	0.06405	0.002	T	0.78404	-0.2217	10	0.52906	T	0.07	.	14.1872	0.65612	0.0:0.0:0.0:1.0	.	311	Q9P2G3	KLH14_HUMAN	L	311	ENSP00000352314:Q311L;ENSP00000350808:Q311L	ENSP00000350808:Q311L	Q	-	2	0	KLHL14	28603621	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	6.024000	0.70857	1.957000	0.56846	0.524000	0.50904	CAG		0.647	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			23	232	0	0	0	1	0	23	232					A	30349623	T	A	30349623	3	1	12	1	0	0	0	0	1	0	0	0	8400	1580	55	5	986	5	KLHL14	18	30349623	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	11066064	30349623	47727625	190	1473											
CNDP1	84735	broad.mit.edu	37	chr18	72228134	72228134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatacctcccatcatcctggCcgaactggggagcgatccca	9	15	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:72228134C>A	ENST00000358821.3	+	4	575	c.347C>A	c.(346-348)gCc>gAc	p.A116D	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.A73D	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	116						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)			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)		ATCATCCTGGCCGAACTGGGG	0.547																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				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						c.(217-219)gCc>gAc		carnosine dipeptidase 1 (metallopeptidase M20 family)							136	137	137					18																	72228134		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228134C>A		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.347C>A	18.37:g.72228134C>A	ENSP00000351682:p.Ala116Asp					CNDP1_ENST00000358821.3_Missense_Mutation_p.A116D|CNDP1_ENST00000585136.1_Intron	p.A73D			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	284	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	116					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.218C>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154667	0.57259	.	.	ENSG00000150656	ENST00000358821	T	0.12569	2.67	5.11	5.11	0.69529	.	0.055184	0.64402	D	0.000001	T	0.43389	0.1245	M	0.88512	2.96	0.58432	D	0.999993	D	0.89917	1.0	D	0.70016	0.967	T	0.51826	-0.8656	10	0.87932	D	0	-20.9769	14.9137	0.70778	0.0:0.8562:0.1438:0.0	.	116	Q96KN2	CNDP1_HUMAN	D	116	ENSP00000351682:A116D	ENSP00000351682:A116D	A	+	2	0	CNDP1	70379114	0.713000	0.27926	0.941000	0.38009	0.394000	0.30568	1.378000	0.34328	2.384000	0.81235	0.655000	0.94253	GCC		0.547	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		9	545	1	0	2.80697e-09	1	3.02508e-09	9	545					A	72228134	C	A	72228134	3	1	12	1	0	0	0	0	1	0	0	0	3602	739	26	3	361	3	CNDP1	18	72228134	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	41878511	72228134	5849114	191	1474											
PRR22	163154	broad.mit.edu	37	chr19	5783697	5783697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcttgttctccttgggGggtgggggtggcagcggggc	23	8	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:5783697G>A	ENST00000419421.2	-	3	665	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	187	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTCCTTGGGGGGTGGGGGTG	0.701																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(559-561)ccC>ccT		proline rich 22							4	6	5					19																	5783697		1989	4014	6003	SO:0001819	synonymous_variant	163154							g.chr19:5783697G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.561C>T	19.37:g.5783697G>A							p.P187P	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	665	-			185			Pro-rich.		E9PB31	Silent	SNP	ENST00000419421.2	37	c.561C>T	CCDS45933.1																																																																																				0.701	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		6	19	0	0	0	1	0	6	19					A	5783697	G	A	5783697	2	1	12	1	0	0	0	0	0	0	0	1	12640	1219	43	2		2	PRR22	19	5783697	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		5783697	53345286	192	1475											
RANBP3	8498	broad.mit.edu	37	chr19	5923907	5923907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggcatctgaactgacctCgtttaattttggggggctct	12	8	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:5923907C>T	ENST00000340578.6	-	12	1072	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	RANBP3_ENST00000439268.2_Missense_Mutation_p.E334K|RANBP3_ENST00000591092.1_Missense_Mutation_p.E266K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E271K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E211K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	339					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GAACTGACCTCGTTTAATTTT	0.562																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1015-1017)Gag>Aag		RAN binding protein 3							58	63	62					19																	5923907		2104	4239	6343	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923907C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1015G>A	19.37:g.5923907C>T	ENSP00000341483:p.Glu339Lys					RANBP3_ENST00000541471.1_Missense_Mutation_p.E211K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E271K|RANBP3_ENST00000439268.2_Missense_Mutation_p.E334K|RANBP3_ENST00000591092.1_Missense_Mutation_p.E266K	p.E339K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1072	-			339					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.1015G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223330	0.79464	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.34667	1.36;1.35;2.11;1.38	5.73	4.7	0.59300	.	0.308175	0.34338	N	0.004045	T	0.49575	0.1565	L	0.61036	1.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;0.997;0.998;1.0;0.999	P;P;P;P;P;D;P	0.66351	0.88;0.879;0.738;0.738;0.866;0.943;0.879	T	0.49133	-0.8971	10	0.08179	T	0.78	-28.738	12.5931	0.56453	0.0:0.9196:0.0:0.0804	.	211;334;211;266;271;334;339	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	K	339;334;271;270;211	ENSP00000341483:E339K;ENSP00000404837:E334K;ENSP00000034275:E271K;ENSP00000445071:E211K	ENSP00000034275:E271K	E	-	1	0	RANBP3	5874907	1.000000	0.71417	0.042000	0.18584	0.905000	0.53344	6.864000	0.75494	1.437000	0.47472	0.563000	0.77884	GAG		0.562	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		36	230	0	0	0	1	0	36	230					T	5923907	C	T	5923907	3	4	12	1	0	0	0	0	1	0	0	0	13079	893	31	1	712	1	RANBP3	19	5923907	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	140210	5923907	53205076	193	1476											
VAV1	7409	broad.mit.edu	37	chr19	6853988	6853988	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattttggcacagccaAagcccgctatgacttctgcg	9	11	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:6853988A>T	ENST00000602142.1	+	26	2445	c.2363A>T	c.(2362-2364)aAa>aTa	p.K788I	VAV1_ENST00000539284.1_Missense_Mutation_p.K691I|VAV1_ENST00000304076.2_Missense_Mutation_p.K766I|VAV1_ENST00000599806.1_Missense_Mutation_p.K733I|VAV1_ENST00000596764.1_Missense_Mutation_p.K756I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	788	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGCACAGCCAAAGCCCGCTAT	0.542																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2296-2298)aAa>aTa		vav 1 guanine nucleotide exchange factor							102	95	98					19																	6853988		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6853988A>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2363A>T	19.37:g.6853988A>T	ENSP00000472929:p.Lys788Ile					VAV1_ENST00000599806.1_Missense_Mutation_p.K733I|VAV1_ENST00000596764.1_Missense_Mutation_p.K756I|VAV1_ENST00000539284.1_Missense_Mutation_p.K691I|VAV1_ENST00000602142.1_Missense_Mutation_p.K788I	p.K766I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2391	+			788					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2297A>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	A	9.596	1.127410	0.20959	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.47528	0.84;0.86	4.35	4.35	0.52113	Src homology-3 domain (5);	0.060238	0.64402	D	0.000006	T	0.41396	0.1157	N	0.13140	0.3	0.38931	D	0.957942	D;D;B;B	0.60575	0.973;0.988;0.003;0.005	P;P;B;B	0.60682	0.786;0.878;0.01;0.015	T	0.34329	-0.9833	10	0.27082	T	0.32	.	6.4128	0.21700	0.8919:0.0:0.1081:0.0	.	691;788;733;788	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	I	788;691	ENSP00000302269:K788I;ENSP00000443242:K691I	ENSP00000302269:K788I	K	+	2	0	VAV1	6804988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.158000	0.50723	1.847000	0.53656	0.459000	0.35465	AAA		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			47	556	0	0	0	1	0	47	556					T	6853988	A	T	6853988	3	4	12	1	0	0	0	0	1	0	0	0	17185	14	1	5	2465	5	VAV1	19	6853988	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	930081	6853988	52274995	194	1477											
PRAM1	4670	broad.mit.edu	37	chr19	8555235	8555235	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgtaccgcagaagtcgacAtcatcgtacacctccgtctc	7	16	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:8555235A>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Silent_p.D653D|PRAM1_ENST00000423345.4_Silent_p.D654D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGAAGTCGACATCATCGTACA	0.667																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1960-1962)gaT>gaC		PML-RARA regulated adaptor molecule 1							62	69	67					19																	8555235		2170	4260	6430	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555235A>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555235A>G						PRAM1_ENST00000255612.3_Silent_p.D653D	p.D654D			Q96QH2	PRAM_HUMAN			9	2482	-			702			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1962T>C	CCDS12203.1																																																																																				0.667	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	189	0	0	0	1	0	4	189					G	8555235	A	G	8555235	1	3	12	0	1	0	0	0	0	0	0	0	12470	214	8	4		4	PRAM1	19	8555235	IGR	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	1701247	8555235	50573748	195	1478											
MUC16	94025	broad.mit.edu	37	chr19	9085442	9085442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacctgtgaccgaggatgCatcagtgttcaaagtactcg	11	9	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:9085442C>A	ENST00000397910.4	-	1	6576	c.6373G>T	c.(6373-6375)Gca>Tca	p.A2125S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2125	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)				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						ACCGAGGATGCATCAGTGTTC	0.488																																						ENST00000397910.4																			0				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						c.(6373-6375)Gca>Tca		mucin 16, cell surface associated							114	111	112					19																	9085442		1933	4133	6066	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085442C>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.6373G>T	19.37:g.9085442C>A	ENSP00000381008:p.Ala2125Ser						p.A2125S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6576	-			2125			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6373G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.609	-0.291225	0.05568	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.235	0.235	0.15431	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.45833	-0.9234	7	0.87932	D	0	.	.	.	.	.	2125	B5ME49	.	S	2125	ENSP00000381008:A2125S	ENSP00000381008:A2125S	A	-	1	0	MUC16	8946442	0.005000	0.15991	0.074000	0.20217	0.075000	0.17131	-0.052000	0.11865	0.308000	0.22923	0.313000	0.20887	GCA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		193	377	1	0	4.54062e-68	1	5.24804e-68	193	377					A	9085442	C	A	9085442	3	1	12	1	0	0	0	0	1	0	0	0	10014	710	25	3	37486	3	MUC16	19	9085442	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	530207	9085442	50043541	196	1479											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	253						7	253	---	---	---	---	-	11038364	GCT	-	11038362	7	5	12	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-2J-AABP-01A-11D-A40W-08	1952920	11038362	48090621	197	1480											
ECSIT	51295	broad.mit.edu	37	chr19	11618812	11618812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcggacttacctacgaTgtggggctgggggggatctg	17	9	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:11618812T>C	ENST00000270517.7	-	5	925	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Missense_Mutation_p.I148V|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Missense_Mutation_p.I50V|ECSIT_ENST00000252440.7_Missense_Mutation_p.I264V|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591104.1_Missense_Mutation_p.I264V|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.I50V	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	264					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTACCTACGATGTGGGGCTGG	0.592																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(790-792)Atc>Gtc		ECSIT signalling integrator							88	97	94					19																	11618812		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618812T>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.790A>G	19.37:g.11618812T>C	ENSP00000270517:p.Ile264Val					ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.I264V|ECSIT_ENST00000592312.1_Missense_Mutation_p.I148V|ECSIT_ENST00000417981.2_Missense_Mutation_p.I50V|ECSIT_ENST00000252440.7_Missense_Mutation_p.I264V|ECSIT_ENST00000588998.1_Missense_Mutation_p.I50V	p.I264V	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			5	925	-			264					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.790A>G	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632961	0.47049	.	.	ENSG00000130159	ENST00000270517;ENST00000417981;ENST00000252440	T;T;T	0.79749	-1.3;1.04;-1.3	3.81	3.81	0.43845	.	0.057445	0.64402	D	0.000002	D	0.85605	0.5735	M	0.63428	1.95	0.37977	D	0.933462	P;D;P	0.61697	0.884;0.99;0.924	P;D;P	0.75484	0.509;0.986;0.497	D	0.85340	0.1095	10	0.34782	T	0.22	-15.1137	9.5611	0.39369	0.0:0.0:0.0:1.0	.	50;264;264	E9PAN9;Q9BQ95-2;Q9BQ95	.;.;ECSIT_HUMAN	V	264;50;264	ENSP00000270517:I264V;ENSP00000412712:I50V;ENSP00000252440:I264V	ENSP00000252440:I264V	I	-	1	0	ECSIT	11479812	1.000000	0.71417	0.995000	0.50966	0.406000	0.30931	4.365000	0.59486	1.671000	0.50874	0.459000	0.35465	ATC		0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		42	295	0	0	0	1	0	42	295					C	11618812	T	C	11618812	3	2	12	1	0	0	0	0	1	0	0	0	4916	1464	51	4	521	4	ECSIT	19	11618812	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	580450	11618812	47510171	198	1481											
IL27RA	9466	broad.mit.edu	37	chr19	14150430	14150430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtctggggcactaaggCaggccagcctctctggcccc	12	16	2	0	rs145198960		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:14150430C>A	ENST00000263379.2	+	3	454	c.329C>A	c.(328-330)gCa>gAa	p.A110E		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	110					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGCACTAAGGCAGGCCAGCCT	0.617																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(328-330)gCa>gAa		interleukin 27 receptor, alpha							63	60	61					19																	14150430		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150430C>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.329C>A	19.37:g.14150430C>A	ENSP00000263379:p.Ala110Glu						p.A110E	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			3	454	+			110					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.329C>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151455	0.09185	.	.	ENSG00000104998	ENST00000263379	T	0.60171	0.21	4.54	0.796	0.18648	.	0.347275	0.21083	N	0.080446	T	0.30823	0.0777	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.23619	-1.0183	10	0.02654	T	1	-18.6192	6.4643	0.21973	0.3857:0.4401:0.1742:0.0	.	110	Q6UWB1	I27RA_HUMAN	E	110	ENSP00000263379:A110E	ENSP00000263379:A110E	A	+	2	0	IL27RA	14011430	0.000000	0.05858	0.001000	0.08648	0.356000	0.29392	-0.182000	0.09726	0.574000	0.29417	0.555000	0.69702	GCA		0.617	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		41	313	1	0	5.20837e-25	1	5.89174e-25	41	313					A	14150430	C	A	14150430	3	1	12	1	0	0	0	0	1	0	0	0	7711	710	25	3	339	3	IL27RA	19	14150430	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2531618	14150430	44978553	199	1482											
OR10H2	26538	broad.mit.edu	37	chr19	15839203	15839203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactccttcctgctcaccgTcatgggctacgaccgctacg	8	18	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:15839203T>C	ENST00000305899.3	+	1	370	c.350T>C	c.(349-351)gTc>gCc	p.V117A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGCTCACCGTCATGGGCTAC	0.647																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(349-351)gTc>gCc		olfactory receptor, family 10, subfamily H, member 2							55	50	52					19																	15839203		2203	4296	6499	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839203T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.350T>C	19.37:g.15839203T>C	ENSP00000306095:p.Val117Ala						p.V117A	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	370	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		117					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.350T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	7.779	0.709155	0.15239	.	.	ENSG00000171942	ENST00000305899	T	0.01304	5.03	3.27	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.486781	0.17282	N	0.179958	T	0.01029	0.0034	N	0.21097	0.63	0.29968	N	0.818798	B	0.14805	0.011	B	0.18871	0.023	T	0.38672	-0.9650	10	0.09843	T	0.71	.	5.8893	0.18899	0.0:0.1378:0.0:0.8622	.	117	O60403	O10H2_HUMAN	A	117	ENSP00000306095:V117A	ENSP00000306095:V117A	V	+	2	0	OR10H2	15700203	0.005000	0.15991	0.957000	0.39632	0.921000	0.55340	0.701000	0.25616	1.127000	0.42034	0.352000	0.21897	GTC		0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			12	147	0	0	0	1	0	12	147					C	15839203	T	C	15839203	3	2	12	1	0	0	0	0	1	0	0	0	10948	1667	58	4	352	4	OR10H2	19	15839203	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	1688773	15839203	43289780	200	1483											
CYP4F11	57834	broad.mit.edu	37	chr19	16040288	16040288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcactggtgataggccGgataatgtcagggtggcata	16	6	1	2	rs138578304	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:16040288G>A	ENST00000402119.4	-	2	748	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R108W|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R108W	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGATAGGCCGGATAATGTCA	0.557													.|||	4	0.000798722	0.0015	0.0	5008	,	,		17393	0.001		0.0	False		,,,				2504	0.001					ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(322-324)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	147	148	147		322,322	0.5	0	19	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	108/525,108/525	16040288	2,13004	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040288G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.322C>T	19.37:g.16040288G>A	ENSP00000384588:p.Arg108Trp					CYP4F11_ENST00000402119.3_Missense_Mutation_p.R108W|CYP4F11_ENST00000248041.7_Missense_Mutation_p.R108W	p.R108W			Q9HBI6	CP4FB_HUMAN			2	323	-			108						Missense_Mutation	SNP	ENST00000402119.4	37	c.322C>T	CCDS12337.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	9.581	1.123683	0.20959	2.27E-4	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.95885	-3.84;-3.84;-3.84	2.97	0.515	0.17013	.	0.186462	0.33438	U	0.004906	D	0.91905	0.7437	M	0.66939	2.045	0.09310	N	1	B;B	0.32160	0.358;0.273	B;B	0.32090	0.14;0.12	D	0.86023	0.1508	10	0.87932	D	0	.	3.8072	0.08782	0.1324:0.0:0.4767:0.3909	.	108;108	F8W978;Q9HBI6	.;CP4FB_HUMAN	W	108	ENSP00000384588:R108W;ENSP00000248041:R108W;ENSP00000319859:R108W	ENSP00000248041:R108W	R	-	1	2	CYP4F11	15901288	0.011000	0.17503	0.003000	0.11579	0.018000	0.09664	0.164000	0.16542	0.440000	0.26502	0.313000	0.20887	CGG		0.557	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		6	684	0	0	0	1	0	6	684					A	16040288	G	A	16040288	3	1	12	1	0	0	0	0	1	0	0	0	4197	1115	39	1	1296	1	CYP4F11	19	16040288	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	201085	16040288	43088695	201	1484											
ZNF43	7594	broad.mit.edu	37	chr19	21990830	21990830	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtatgaattAtcttatgtttagtaagggtt	8	5	2	1	rs199855387		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:21990830A>C	ENST00000354959.4	-	4	2178	c.2009T>G	c.(2008-2010)aTa>aGa	p.I670R	ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000594012.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	670					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGTATGAATTATCTTATGTTT	0.368																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1990-1992)aTa>aGa		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990830A>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2009T>G	19.37:g.21990830A>C	ENSP00000347045:p.Ile670Arg					ZNF43_ENST00000354959.4_Missense_Mutation_p.I670R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R	p.I664R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2505	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	670					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1991T>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.634793	0.00007	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.12465	2.68	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00133	-2.03	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.33752	-0.9856	9	0.02654	T	1	.	4.0493	0.09788	0.179:0.591:0.0:0.23	.	670	P17038	ZNF43_HUMAN	R	669;670	ENSP00000347045:I670R	ENSP00000347045:I670R	I	-	2	0	ZNF43	21782670	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-3.559000	0.00431	-1.192000	0.02691	-1.026000	0.02426	ATA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	397	0	0	0	1	0	6	397					C	21990830	A	C	21990830	3	2	12	1	0	0	0	0	1	0	0	0	17956	449	16	4	424	4	ZNF43	19	21990830	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	5950542	21990830	37138153	202	1485											
ANKRD27	84079	broad.mit.edu	37	chr19	33089124	33089124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccctgggacacgaccGcatcctctaccgtgtgtctc	11	17	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:33089124G>A	ENST00000306065.4	-	29	3238	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1027					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1027V(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGACACGACCGCATCCTCTAC	0.617																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.A1027V(1)	kidney(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(3079-3081)gCg>gTg		ankyrin repeat domain 27 (VPS9 domain)							95	90	92					19																	33089124		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33089124G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.3080C>T	19.37:g.33089124G>A	ENSP00000304292:p.Ala1027Val						p.A1027V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			29	3238	-	Esophageal squamous(110;0.137)		1027					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.3080C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165830	0.21538	.	.	ENSG00000105186	ENST00000306065	T	0.60548	0.18	5.21	3.06	0.35304	.	0.594790	0.13748	N	0.365474	T	0.45034	0.1322	L	0.38175	1.15	0.09310	N	0.999997	B	0.11235	0.004	B	0.04013	0.001	T	0.39781	-0.9597	10	0.59425	D	0.04	-0.9939	7.6286	0.28226	0.1915:0.0:0.8085:0.0	.	1027	Q96NW4	ANR27_HUMAN	V	1027	ENSP00000304292:A1027V	ENSP00000304292:A1027V	A	-	2	0	ANKRD27	37780964	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.957000	0.29215	1.327000	0.45338	0.655000	0.94253	GCG		0.617	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		6	757	0	0	0	1	0	6	757					A	33089124	G	A	33089124	3	1	12	1	0	0	0	0	1	0	0	0	655	1087	38	1	76	1	ANKRD27	19	33089124	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	11098294	33089124	26039859	203	1486											
ATP4A	495	broad.mit.edu	37	chr19	36043993	36043993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggtcctcccactgCgcccgcagccccacgcacag	12	18	0	0	rs200535073		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCTCCCACTGCGCCCGCAGCC	0.647																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2695-2697)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						93	89	90					19																	36043993		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36043993C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2697G>A	19.37:g.36043993C>T							p.A899A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2725	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		899					O00738	Silent	SNP	ENST00000262623.3	37	c.2697G>A	CCDS12467.1																																																																																				0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		38	619	0	0	0	1	0	38	619					T	36043993	C	T	36043993	2	4	12	1	0	0	0	0	0	0	0	1	1146	755	27	1		1	ATP4A	19	36043993	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	2954869	36043993	23084990	204	1487											
HNRNPL	3191	broad.mit.edu	37	chr19	39340485	39340497	+	Frame_Shift_Del	DEL	CCGCCGCCCGCCG	CCGCCGCCCGCCG	-													agtagcggccaccgccgcctCcgccgcccgccgccgccatc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:39340485_39340497delCCGCCGCCCGCCG	ENST00000221419.5	-	1	476_488	c.110_122delCGGCGGGCGGCGG	c.(109-123)gcggcgggcggcggafs	p.AAGGG37fs	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	37					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			accgccgcctccgccgcccgccgccgccATCTT	0.765																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(109-123)gafs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39340485_39340497delCCGCCGCCCGCCG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.110_122delCGGCGGGCGGCGG	19.37:g.39340485_39340497delCCGCCGCCCGCCG	ENSP00000221419:p.Ala37fs					HNRNPL_ENST00000600873.1_Intron	p.AAGGG37fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		1	476_488	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		37					A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	c.110_122delCGGCGGGCGGCGG	CCDS33015.1																																																																																				0.765	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			7	36						7	36	---	---	---	---	-	39340497	CCGCCGCCCGCCG	-	39340485	7	5	12	1	0	1	0	1	0	0	0	0	7300	855	30	0	1699	0	HNRNPL	19	39340485	Frame_Shift_Del	DEL	CCGCCGCCCGCCG	TCGA-2J-AABP-01A-11D-A40W-08	3296492	39340485	19788498	205	1488											
ERF	2077	broad.mit.edu	37	chr19	42753026	42753027	+	Frame_Shift_Ins	INS	-	-	C													cggtggggctagcgcccctgINSccccctcagccagcccgcct							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:42753026_42753027insC	ENST00000222329.4	-	4	1394_1395	c.1237_1238insG	c.(1237-1239)gcafs	p.A413fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Ins_p.A338fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	413					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TAGCGCCCCTGCCCCCTCAGCC	0.698																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1237-1239)aggfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753026_42753027insC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1238dupG	19.37:g.42753031_42753031dupC	ENSP00000222329:p.Ala413fs					ERF_ENST00000440177.2_Frame_Shift_Ins_p.R338fs|AC006486.9_ENST00000594664.1_Intron	p.R413fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1394_1395	-		Prostate(69;0.00682)	413					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.1237_1238insG	CCDS12600.1																																																																																				0.698	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		13	527						13	527	---	---	---	---	C	42753027	-	C	42753026	7	5	12	1	0	1	1	0	0	0	0	0	5239	1319	46	0	412	0	ERF	19	42753026	Frame_Shift_Ins	INS	-	TCGA-2J-AABP-01A-11D-A40W-08	3412541	42753026	16375957	206	1489											
PSG9	5678	broad.mit.edu	37	chr19	43766286	43766286	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagatgtagggcttgggagtCtccactgtgcagaaaacaga	14	7	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:43766286C>T	ENST00000270077.3	-	3	531	c.435G>A	c.(433-435)gaG>gaA	p.E145E	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E145E|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Silent_p.E145E	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTTGGGAGTCTCCACTGTGC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(433-435)gaG>gaA		pregnancy specific beta-1-glycoprotein 9							143	143	143					19																	43766286		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766286C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.435G>A	19.37:g.43766286C>T						PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Silent_p.E145E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E145E	p.E145E			Q00887	PSG9_HUMAN			3	501	-		Prostate(69;0.00682)	145					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.435G>A	CCDS12618.1																																																																																				0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	947	0	0	0	1	0	8	947					T	43766286	C	T	43766286	2	4	12	1	0	0	0	0	0	0	0	1	12709	912	32	2		2	PSG9	19	43766286	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	1013260	43766286	15362697	207	1490											
RUVBL2	10856	broad.mit.edu	37	chr19	49513093	49513093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaccatctacgacctgGgcaccaagatgattgagtcc	11	11	1	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:49513093G>A	ENST00000595090.1	+	7	987	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G130S|RUVBL2_ENST00000413176.2_Missense_Mutation_p.G130S	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	175					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTACGACCTGGGCACCAAGAT	0.632																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(388-390)Ggc>Agc		RuvB-like AAA ATPase 2							103	104	104					19																	49513093		2081	4212	6293	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513093G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.523G>A	19.37:g.49513093G>A	ENSP00000473172:p.Gly175Ser					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G130S|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G175S	p.G130S			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	7	1536	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	175					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.388G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095918	0.94197	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.56103	0.48;0.88	4.31	4.31	0.51392	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.93678	3.445	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	0.84525	0.0630	10	0.72032	D	0.01	-36.9157	14.6799	0.69009	0.0:0.0:1.0:0.0	.	175;175;141	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	S	175;130	ENSP00000221413:G175S;ENSP00000413890:G130S	ENSP00000221413:G175S	G	+	1	0	RUVBL2	54204905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.912000	0.75753	2.417000	0.82017	0.655000	0.94253	GGC		0.632	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			6	567	0	0	0	1	0	6	567					A	49513093	G	A	49513093	3	1	12	1	0	0	0	0	1	0	0	0	13803	1232	43	2	549	2	RUVBL2	19	49513093	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	5746807	49513093	9615890	208	1491											
SLC17A7	57030	broad.mit.edu	37	chr19	49937267	49937267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtactgcacaaggaccccgGcgaggggcatcgcgaccacc	13	15	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:49937267G>C	ENST00000221485.3	-	6	845	c.674C>G	c.(673-675)gCc>gGc	p.A225G	SLC17A7_ENST00000543531.1_Missense_Mutation_p.A213G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A158G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	225					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AAGGACCCCGGCGAGGGGCAT	0.657																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(673-675)gCc>gGc		solute carrier family 17 (vesicular glutamate transporter), member 7							39	38	38					19																	49937267		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937267G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.674C>G	19.37:g.49937267G>C	ENSP00000221485:p.Ala225Gly					SLC17A7_ENST00000543531.1_Missense_Mutation_p.A213G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A158G	p.A225G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	6	845	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	225					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.674C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	g	17.04	3.288374	0.59976	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55413	0.52;0.52	4.23	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.51477	D	0.000081	T	0.46171	0.1379	L	0.39085	1.19	0.80722	D	1	B;B	0.21225	0.005;0.053	B;B	0.28465	0.05;0.09	T	0.49143	-0.8970	10	0.59425	D	0.04	.	14.5062	0.67755	0.0:0.0:1.0:0.0	.	158;225	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	G	225;213	ENSP00000221485:A225G;ENSP00000441767:A213G	ENSP00000221485:A225G	A	-	2	0	SLC17A7	54629079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.481000	0.97933	2.372000	0.80975	0.556000	0.70494	GCC		0.657	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			76	86	0	0	0	1	0	76	86					C	49937267	G	C	49937267	3	2	12	1	0	0	0	0	1	0	0	0	14472	1203	42	5	1036	5	SLC17A7	19	49937267	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	424174	49937267	9191716	209	1492											
MYH14	79784	broad.mit.edu	37	chr19	50779289	50779289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgggcccagctgctgaaatCcctgcgggaggctcaagcag	14	14	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:50779289C>A	ENST00000596571.1	+	25	3386	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	MYH14_ENST00000425460.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000376970.2_Missense_Mutation_p.S1162Y|MYH14_ENST00000440075.2_Missense_Mutation_p.S1170Y|MYH14_ENST00000601313.1_Missense_Mutation_p.S1170Y|MYH14_ENST00000598205.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000262269.8_Missense_Mutation_p.S1170Y			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1129					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCTGAAATCCCTGCGGGAG	0.667																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3508-3510)tCc>tAc		myosin, heavy chain 14, non-muscle							14	18	16					19																	50779289		1974	4152	6126	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50779289C>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3386C>A	19.37:g.50779289C>A	ENSP00000472819:p.Ser1129Tyr					MYH14_ENST00000262269.8_Missense_Mutation_p.S1170Y|MYH14_ENST00000376970.2_Missense_Mutation_p.S1162Y|MYH14_ENST00000425460.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000596571.1_Missense_Mutation_p.S1129Y|MYH14_ENST00000601313.1_Missense_Mutation_p.S1170Y|MYH14_ENST00000598205.1_Missense_Mutation_p.S1137Y	p.S1170Y			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	28	3556	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1129					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3509C>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976375	0.34848	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;T;T;D	0.83075	-1.68;-1.23;-1.23;-1.68	4.0	2.96	0.34315	Myosin tail (1);	.	.	.	.	T	0.82135	0.4971	L	0.27053	0.805	0.29891	N	0.825176	D;D;D	0.69078	0.997;0.996;0.996	P;D;P	0.64877	0.886;0.93;0.886	T	0.75184	-0.3407	9	0.87932	D	0	.	6.3899	0.21581	0.0:0.7775:0.0:0.2225	.	1170;1129;1137	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Y	1129;1170;1162;1137;1129;1170	ENSP00000406273:S1170Y;ENSP00000366169:S1162Y;ENSP00000407879:S1137Y;ENSP00000262269:S1170Y	ENSP00000262269:S1170Y	S	+	2	0	MYH14	55471101	0.162000	0.22906	0.893000	0.35052	0.241000	0.25554	1.539000	0.36104	1.056000	0.40484	-0.391000	0.06502	TCC		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		76	69	1	0	1.21457e-23	1	1.36425e-23	76	69					A	50779289	C	A	50779289	3	1	12	1	0	0	0	0	1	0	0	0	10074	855	30	3	3615	3	MYH14	19	50779289	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	842022	50779289	8349694	210	1493											
MYH14	79784	broad.mit.edu	37	chr19	50804981	50804981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaaggcagagagcgggCggcagcagctggaacggcag	18	11	0	1	rs199600574	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:50804981C>T	ENST00000596571.1	+	37	5410	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	MYH14_ENST00000425460.1_Missense_Mutation_p.R1812W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1837W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1845W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1845W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1812W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1845W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1804					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGAGAGCGGGCGGCAGCAGCT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		17612	0.0		0.004	False		,,,				2504	0.0					ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5533-5535)Cgg>Tgg		myosin, heavy chain 14, non-muscle		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4122		0,0,2061	39	46	44		5434,5533,5410	0.3	1	19		44	4,8444		0,4,4220	yes	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,4,6281	TT,TC,CC		0.0473,0.0,0.0318	possibly-damaging,possibly-damaging,possibly-damaging	1812/2004,1845/2037,1804/1996	50804981	4,12566	2061	4224	6285	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50804981C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5410C>T	19.37:g.50804981C>T	ENSP00000472819:p.Arg1804Trp					MYH14_ENST00000262269.8_Missense_Mutation_p.R1845W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1837W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1812W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1804W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1845W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1812W	p.R1845W			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5580	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1804					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5533C>T	CCDS59411.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	16.84	3.232688	0.58777	0.0	4.73E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.08	0.271	0.15640	Myosin tail (1);	.	.	.	.	D	0.82379	0.5024	M	0.72353	2.195	0.41383	D	0.987569	P;P;P	0.45827	0.839;0.867;0.839	B;P;B	0.45406	0.347;0.479;0.347	T	0.82908	-0.0224	9	0.87932	D	0	.	11.1273	0.48325	0.4729:0.5271:0.0:0.0	.	1845;1804;1812	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1845;1837;1812;1588;1845	ENSP00000406273:R1845W;ENSP00000366169:R1837W;ENSP00000407879:R1812W;ENSP00000262269:R1845W	ENSP00000262269:R1845W	R	+	1	2	MYH14	55496793	0.974000	0.33945	0.998000	0.56505	0.996000	0.88848	2.466000	0.45084	0.425000	0.26087	0.591000	0.81541	CGG		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		39	299	0	0	0	1	0	39	299					T	50804981	C	T	50804981	3	4	12	1	0	0	0	0	1	0	0	0	10074	759	27	1	5687	1	MYH14	19	50804981	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	25692	50804981	8324002	211	1494											
NKG7	4818	broad.mit.edu	37	chr19	51875040	51875040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttctgctcacaaggtTtcatagccaggacggggacc	11	12	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:51875040T>A	ENST00000221978.5	-	4	668	c.489A>T	c.(487-489)gaA>gaT	p.E163D	CLDND2_ENST00000291715.1_5'Flank|CLDND2_ENST00000601435.1_5'Flank|NKG7_ENST00000600427.1_Missense_Mutation_p.E83D|NKG7_ENST00000595217.1_3'UTR	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	163						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCACAAGGTTTCATAGCCAG	0.582																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(487-489)gaA>gaT		natural killer cell group 7 sequence							152	173	166					19																	51875040		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875040T>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.489A>T	19.37:g.51875040T>A	ENSP00000221978:p.Glu163Asp					NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Missense_Mutation_p.E83D	p.E163D	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	668	-		all_neural(266;0.0199)	163						Missense_Mutation	SNP	ENST00000221978.5	37	c.489A>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858826	0.71834	.	.	ENSG00000105374	ENST00000221978	.	.	.	5.17	-4.48	0.03515	.	0.929502	0.08893	N	0.878340	T	0.15739	0.0379	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.14578	0.011	T	0.24404	-1.0161	9	0.30078	T	0.28	-0.01	1.6474	0.02764	0.1181:0.2407:0.3352:0.306	.	163	Q16617	NKG7_HUMAN	D	163	.	ENSP00000221978:E163D	E	-	3	2	NKG7	56566852	0.000000	0.05858	0.006000	0.13384	0.653000	0.38743	-2.978000	0.00664	-0.251000	0.09542	0.397000	0.26171	GAA		0.582	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		87	1095	0	0	0	1	0	87	1095					A	51875040	T	A	51875040	3	1	12	1	0	0	0	0	1	0	0	0	10485	1838	64	5	12	5	NKG7	19	51875040	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	1070059	51875040	7253943	212	1495											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			11	488						11	488	---	---	---	---	-	54675749	TCC	-	54675747	7	5	12	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AABP-01A-11D-A40W-08	2800707	54675747	4453236	213	1496											
LILRB4	11006	broad.mit.edu	37	chr19	55175822	55175822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaccaggctgaattcCccatgagtcctgtgacctca	9	14	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:55175822C>T	ENST00000391736.1	+	6	856	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	LILRB4_ENST00000430952.2_Missense_Mutation_p.P181S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P181S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P181S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P181S	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	181	Ig-like C2-type 2.				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)			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)		GGCTGAATTCCCCATGAGTCC	0.597																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(541-543)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							100	91	94					19																	55175822		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175822C>T	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.541C>T	19.37:g.55175822C>T	ENSP00000375616:p.Pro181Ser					LILRB4_ENST00000430952.2_Missense_Mutation_p.P181S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P181S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P181S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P181S	p.P181S	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		GBM - Glioblastoma multiforme(193;0.035)	6	856	+			181			Ig-like C2-type 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.541C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452025	0.01080	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19;4.19	2.63	-4.82	0.03171	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01124	0.0037	N	0.01424	-0.875	0.09310	N	1	P;B;B;B;B	0.40398	0.716;0.189;0.112;0.379;0.051	P;B;B;B;B	0.44732	0.459;0.105;0.087;0.095;0.072	T	0.40079	-0.9582	9	0.15066	T	0.55	.	2.6753	0.05079	0.2919:0.223:0.0:0.4851	.	181;181;181;181;181	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	S	181	ENSP00000375616:P181S;ENSP00000270452:P181S;ENSP00000408995:P181S;ENSP00000375614:P181S;ENSP00000375613:P181S;ENSP00000401962:P181S	ENSP00000270452:P181S	P	+	1	0	LILRB4	59867634	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.126000	0.01316	-0.699000	0.05077	0.400000	0.26472	CCC		0.597	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			136	217	0	0	0	1	0	136	217					T	55175822	C	T	55175822	3	4	12	1	0	0	0	0	1	0	0	0	8825	623	22	2	555	2	LILRB4	19	55175822	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	500075	55175822	3953161	214	1497											
PEG3	5178	broad.mit.edu	37	chr19	57328548	57328548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatggcttttctcatcTcactaccacattcaaagggc	6	14	4	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:57328548T>C	ENST00000326441.9	-	10	1625	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E297G|PEG3_ENST00000593695.1_Missense_Mutation_p.E295G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E421G|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	421					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)			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)		TTTTCTCATCTCACTACCACA	0.493																																						ENST00000326441.9																			0				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						c.(1261-1263)gAg>gGg		paternally expressed 3							148	147	147					19																	57328548		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.chr19:57328548T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1262A>G	19.37:g.57328548T>C	ENSP00000326581:p.Glu421Gly					ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E295G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E421G|PEG3_ENST00000598410.1_Missense_Mutation_p.E297G|ZIM2_ENST00000391708.3_Intron	p.E421G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1625	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	421					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1262A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448694	0.43531	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.03212	4.01;4.01	4.14	4.14	0.48551	.	0.298622	0.24165	N	0.040941	T	0.03827	0.0108	L	0.32530	0.975	.	.	.	P;P;P	0.48162	0.906;0.596;0.791	B;B;B	0.41036	0.346;0.201;0.272	T	0.19647	-1.0299	9	0.87932	D	0	-17.7198	9.8414	0.41002	0.0:0.0:0.0:1.0	.	297;421;356	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	421;421;391	ENSP00000326581:E421G;ENSP00000403051:E421G	ENSP00000292074:E391G	E	-	2	0	ZIM2	62020360	0.002000	0.14202	0.061000	0.19648	0.969000	0.65631	1.406000	0.34646	2.098000	0.63641	0.528000	0.53228	GAG		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			69	592	0	0	0	1	0	69	592					C	57328548	T	C	57328548	3	2	12	1	0	0	0	0	1	0	0	0	11762	1551	54	4	3508	4	PEG3	19	57328548	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	2152726	57328548	1800435	215	1498											
ZNF17	7565	broad.mit.edu	37	chr19	57931756	57931756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggattcacaccaggcCaaggccttatgtgtgtagtg	12	10	1	1	rs376983619		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:57931756C>T	ENST00000601808.1	+	3	1109	c.896C>T	c.(895-897)cCa>cTa	p.P299L	ZNF17_ENST00000307658.7_Missense_Mutation_p.P301L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CACACCAGGCCAAGGCCTTAT	0.468																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(901-903)cCa>cTa		zinc finger protein 17		C	LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	73	77	76		896	-3.3	0	19		76	0,8600		0,0,4300	no	missense	ZNF17	NM_006959.2	98	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	299/663	57931756	1,13003	2202	4300	6502	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931756C>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.896C>T	19.37:g.57931756C>T	ENSP00000471905:p.Pro299Leu					ZNF17_ENST00000601808.1_Missense_Mutation_p.P299L|AC004076.7_ENST00000597410.1_Intron	p.P301L			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1165	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	299					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.902C>T	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942441	0.53079	2.27E-4	0.0	ENSG00000186272	ENST00000307658	.	.	.	1.63	-3.27	0.05048	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17152	0.0412	N	0.17278	0.47	0.19300	N	0.99998	B;B	0.33266	0.108;0.404	B;B	0.27500	0.08;0.067	T	0.13150	-1.0520	8	0.87932	D	0	.	4.8578	0.13568	0.4931:0.2284:0.2785:0.0	.	301;299	P17021-2;P17021	.;ZNF17_HUMAN	L	299	.	ENSP00000302455:P299L	P	+	2	0	ZNF17	62623568	0.000000	0.05858	0.018000	0.16275	0.773000	0.43773	0.257000	0.18369	-0.844000	0.04184	0.650000	0.86243	CCA		0.468	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		28	449	0	0	0	1	0	28	449					T	57931756	C	T	57931756	3	4	12	1	0	0	0	0	1	0	0	0	17796	594	21	2	906	2	ZNF17	19	57931756	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	603208	57931756	1197227	216	1499											
HSPA12B	116835	broad.mit.edu	37	chr20	3721480	3721480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctccagcccggagcggtCcccagtgcctagcccacccg	12	19	0	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:3721480C>T	ENST00000254963.2	+	3	207	c.62C>T	c.(61-63)tCc>tTc	p.S21F	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	21							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGGAGCGGTCCCCAGTGCCT	0.662																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(61-63)tCc>tTc		heat shock 70kD protein 12B							44	42	43					20																	3721480		2203	4300	6503	SO:0001583	missense	116835						ATP binding	g.chr20:3721480C>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.62C>T	20.37:g.3721480C>T	ENSP00000254963:p.Ser21Phe					HSPA12B_ENST00000542646.1_Intron	p.S21F	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			3	207	+			21					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.62C>T	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073242	0.55646	.	.	ENSG00000132622	ENST00000254963	T	0.03663	3.85	4.3	4.3	0.51218	.	.	.	.	.	T	0.05318	0.0141	L	0.44542	1.39	0.22581	N	0.998963	B;B	0.33135	0.399;0.399	B;B	0.34242	0.178;0.178	T	0.26815	-1.0092	9	0.52906	T	0.07	.	12.4781	0.55825	0.0:1.0:0.0:0.0	.	21;21	B7ZLP2;Q96MM6	.;HS12B_HUMAN	F	21	ENSP00000254963:S21F	ENSP00000254963:S21F	S	+	2	0	HSPA12B	3669480	0.987000	0.35691	0.952000	0.39060	0.885000	0.51271	3.800000	0.55537	2.402000	0.81655	0.655000	0.94253	TCC		0.662	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		13	115	0	0	0	1	0	13	115					T	3721480	C	T	3721480	3	4	12	1	0	0	0	0	1	0	0	0	7435	855	30	2	68	2	HSPA12B	20	3721480	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		3721480	59304040	217	1500											
MACROD2	140733	broad.mit.edu	37	chr20	14066290	14066290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatactcaggaaacatccCaggtgaagaaaagtttgact	8	7	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:14066290C>A	ENST00000310348.4	+	3	187	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	MACROD2_ENST00000217246.4_Missense_Mutation_p.Q63K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	63	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACATCCCAGGTGAAGAA	0.303																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(187-189)Cag>Aag		MACRO domain containing 2							75	69	71					20																	14066290		1802	4058	5860	SO:0001583	missense	140733							g.chr20:14066290C>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.187C>A	20.37:g.14066290C>A	ENSP00000309809:p.Gln63Lys					MACROD2_ENST00000310348.4_Missense_Mutation_p.Q63K	p.Q63K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			3	582	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	63			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.187C>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964644	0.18583	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.41065	1.01;1.01	5.5	3.49	0.39957	Appr-1-p processing (1);	0.742732	0.12798	N	0.438261	T	0.26882	0.0658	N	0.12961	0.28	0.80722	D	1	B;B	0.20261	0.043;0.003	B;B	0.22601	0.04;0.001	T	0.03193	-1.1062	10	0.12430	T	0.62	-0.6026	13.7845	0.63102	0.0:0.7057:0.2943:0.0	.	63;63	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	63	ENSP00000217246:Q63K;ENSP00000309809:Q63K	ENSP00000217246:Q63K	Q	+	1	0	MACROD2	14014290	1.000000	0.71417	0.637000	0.29366	0.946000	0.59487	1.193000	0.32162	0.646000	0.30693	-0.291000	0.09656	CAG		0.303	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		5	280	1	0	0.000602214	1	0.000619698	5	280					A	14066290	C	A	14066290	3	1	12	1	0	0	0	0	1	0	0	0	9185	595	21	3	197	3	MACROD2	20	14066290	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	10344810	14066290	48959230	218	1501											
C20orf26	26074	broad.mit.edu	37	chr20	20243648	20243648	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtcaacacctgacaaacaggGaggttcccaacagcagtcag	10	12	2	1	rs149798734		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20243648G>C	ENST00000245957.5	+	21	2453	c.2377G>C	c.(2377-2379)Gag>Cag	p.E793Q	C20orf26_ENST00000389656.3_Missense_Mutation_p.E149Q|C20orf26_ENST00000377309.2_Missense_Mutation_p.E149Q|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E149Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		793										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GACAAACAGGGAGGTTCCCAA	0.458																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2377-2379)Gag>Cag		chromosome 20 open reading frame 26							106	105	106					20																	20243648		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20243648G>C																												ENST00000245957.5:c.2377G>C	20.37:g.20243648G>C	ENSP00000245957:p.Glu793Gln					RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E149Q|C20orf26_ENST00000377309.2_Missense_Mutation_p.E149Q|C20orf26_ENST00000389656.3_Missense_Mutation_p.E149Q	p.E793Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2453	+			793					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2377G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476947	0.44044	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.22	5.22	0.72569	.	0.468411	0.24669	N	0.036568	T	0.57519	0.2059	L	0.48986	1.54	0.40163	D	0.97708	B;P;D	0.76494	0.197;0.633;0.999	B;B;P	0.61658	0.206;0.133;0.892	T	0.57335	-0.7829	10	0.51188	T	0.08	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	773;149;793	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	Q	733;149;149;773;793;149	ENSP00000366524:E149Q;ENSP00000374307:E149Q;ENSP00000245957:E793Q;ENSP00000366508:E149Q	ENSP00000245957:E793Q	E	+	1	0	C20orf26	20191648	1.000000	0.71417	0.931000	0.37212	0.220000	0.24768	5.616000	0.67709	2.715000	0.92844	0.655000	0.94253	GAG		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			10	542	0	0	0	1	0	10	542					C	20243648	G	C	20243648	3	2	12	1	0	0	0	0	1	0	0	0	2113	1175	41	5	2487	5	C20orf26	20	20243648	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	6177358	20243648	42781872	219	1502											
C20orf26	26074	broad.mit.edu	37	chr20	20243740	20243746	+	Frame_Shift_Del	DEL	GATTTGG	GATTTGG	-													gaggattgctttaaggcactGatttggataaggaataactc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20243740_20243746delGATTTGG	ENST00000245957.5	+	21	2545_2551	c.2469_2475delGATTTGG	c.(2467-2475)ctgatttggfs	p.LIW823fs	C20orf26_ENST00000389656.3_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377309.2_Frame_Shift_Del_p.LIW179fs|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Frame_Shift_Del_p.LIW179fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		823										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTAAGGCACTGATTTGGATAAGGAATA	0.44																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2467-2475)ctfs		chromosome 20 open reading frame 26																																				SO:0001589	frameshift_variant	26074							g.chr20:20243740_20243746delGATTTGG																												ENST00000245957.5:c.2469_2475delGATTTGG	20.37:g.20243740_20243746delGATTTGG	ENSP00000245957:p.Leu823fs					C20orf26_ENST00000389656.3_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377293.1_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377309.2_Frame_Shift_Del_p.LIW179fs|RP5-1096J16.1_ENST00000460400.1_RNA	p.LIW823fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2545_2551	+			823					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Frame_Shift_Del	DEL	ENST00000245957.5	37	c.2469_2475delGATTTGG	CCDS33447.1																																																																																				0.44	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			13	819						13	819	---	---	---	---	-	20243746	GATTTGG	-	20243740	7	5	12	1	0	1	0	1	0	0	0	0	2113	1277	45	0	2579	0	C20orf26	20	20243740	Frame_Shift_Del	DEL	GATTTGG	TCGA-2J-AABP-01A-11D-A40W-08	92	20243740	42781780	220	1503											
C20orf26	26074	broad.mit.edu	37	chr20	20278839	20278839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtttagaactagtAaccggcagtgcgaaaaatgg	12	8	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20278839A>G	ENST00000245957.5	+	25	3307	c.3231A>G	c.(3229-3231)gtA>gtG	p.V1077V	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1077										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAACTAGTAACCGGCAGTG	0.403																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3229-3231)gtA>gtG		chromosome 20 open reading frame 26							75	75	75					20																	20278839		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20278839A>G																												ENST00000245957.5:c.3231A>G	20.37:g.20278839A>G						C20orf26_ENST00000377309.2_3'UTR	p.V1077V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3307	+			1077					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3231A>G	CCDS33447.1																																																																																				0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			23	379	0	0	0	1	0	23	379					G	20278839	A	G	20278839	2	3	12	1	0	0	0	0	0	0	0	1	2113	349	13	4		4	C20orf26	20	20278839	Silent	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	35099	20278839	42746681	221	1504											
CD93	22918	broad.mit.edu	37	chr20	23066355	23066355	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaggggccctcagaccactTggggaggcggctgggaagga	18	10	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:23066355T>A	ENST00000246006.4	-	1	622	c.475A>T	c.(475-477)Aag>Tag	p.K159*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAGACCACTTGGGGAGGCGG	0.627																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(475-477)Aag>Tag		CD93 molecule							26	32	30					20																	23066355		2203	4300	6503	SO:0001587	stop_gained	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066355T>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.475A>T	20.37:g.23066355T>A	ENSP00000246006:p.Lys159*						p.K159*	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	622	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		159			C-type lectin.		O00274	Nonsense_Mutation	SNP	ENST00000246006.4	37	c.475A>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552642	0.86127	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	.	.	.	5.52	5.52	0.82312	.	0.311666	0.27673	N	0.018340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.5799	9.5152	0.39102	0.0:0.0873:0.0:0.9127	.	.	.	.	X	159	.	ENSP00000246006:K159X	K	-	1	0	CD93	23014355	.	.	0.905000	0.35620	0.029000	0.11900	.	.	2.218000	0.71995	0.533000	0.62120	AAG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		23	247	0	0	0	1	0	23	247					A	23066355	T	A	23066355	4	1	12	1	0	0	0	0	0	1	0	0	3056	1821	63	5	1491	5	CD93	20	23066355	Nonsense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	2787516	23066355	39959165	222	1505											
ITCH	83737	broad.mit.edu	37	chr20	33045269	33045269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacacaatgggaagaccccAgaagtcaagggtaagaatag	11	7	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:33045269A>G	ENST00000262650.6	+	14	1544	c.1408A>G	c.(1408-1410)Aga>Gga	p.R470G	ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000374864.4_Missense_Mutation_p.R429G|ITCH_ENST00000535650.1_Missense_Mutation_p.R319G|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	470	Required for interaction with FYN.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGAAGACCCCAGAAGTCAAGG	0.388																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1285-1287)Aga>Gga		itchy E3 ubiquitin protein ligase							72	64	67					20																	33045269		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33045269A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1408A>G	20.37:g.33045269A>G	ENSP00000262650:p.Arg470Gly					ITCH_ENST00000262650.6_Missense_Mutation_p.R470G|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.R319G	p.R429G	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			13	1498	+			470			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1285A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763702	0.69878	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.41400	1.0;1.0;1.35	5.73	0.423	0.16463	WW/Rsp5/WWP (4);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.92923	3.36	0.58432	D	0.999999	D;D;D	0.89917	0.967;1.0;0.999	D;D;D	0.72075	0.916;0.964;0.976	T	0.77435	-0.2589	10	0.87932	D	0	.	14.4212	0.67185	0.4708:0.5292:0.0:0.0	.	381;470;429	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	G	429;319;470	ENSP00000363998:R429G;ENSP00000445608:R319G;ENSP00000262650:R470G	ENSP00000262650:R470G	R	+	1	2	ITCH	32508930	0.988000	0.35896	0.998000	0.56505	0.992000	0.81027	2.913000	0.48790	0.082000	0.17018	0.482000	0.46254	AGA		0.388	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			10	207	0	0	0	1	0	10	207					G	33045269	A	G	33045269	3	3	12	1	0	0	0	0	1	0	0	0	7898	180	7	4	1327	4	ITCH	20	33045269	Missense_Mutation	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	9978914	33045269	29980251	223	1506											
PTPRT	11122	broad.mit.edu	37	chr20	41400107	41400107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcatgctgagaccactTcccaccagcaatgcactgaa	7	14	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:41400107T>C	ENST00000373187.1	-	5	651	c.652A>G	c.(652-654)Aag>Gag	p.K218E	PTPRT_ENST00000373184.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373198.4_Missense_Mutation_p.K218E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K218E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K218E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K218E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	218	Ig-like C2-type.		K -> T (in a gastric cancer). {ECO:0000269|PubMed:15155950}.		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)			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)				TGAGACCACTTCCCACCAGCA	0.483																																						ENST00000373198.3																			0				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						c.(652-654)Aag>Gag		protein tyrosine phosphatase, receptor type, T							199	184	189					20																	41400107		2020	4195	6215	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.chr20:41400107T>C	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.652A>G	20.37:g.41400107T>C	ENSP00000362283:p.Lys218Glu					PTPRT_ENST00000373184.1_Missense_Mutation_p.K218E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K218E|PTPRT_ENST00000373187.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K218E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K218E	p.K218E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			5	887	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	218		K -> T (in a gastric cancer).	Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.652A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069814	0.76301	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.103898	0.64402	D	0.000010	T	0.31857	0.0810	L	0.29908	0.895	0.58432	D	0.999999	P;P	0.41929	0.765;0.653	P;B	0.45753	0.492;0.194	T	0.08351	-1.0726	10	0.62326	D	0.03	.	15.789	0.78338	0.0:0.0:0.0:1.0	.	218;218	O14522-1;O14522	.;PTPRT_HUMAN	E	218	ENSP00000362286:K218E;ENSP00000362283:K218E;ENSP00000362289:K218E;ENSP00000348408:K218E;ENSP00000362294:K218E;ENSP00000362280:K218E;ENSP00000362297:K218E	ENSP00000348408:K218E	K	-	1	0	PTPRT	40833521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.593000	0.82686	2.188000	0.69820	0.528000	0.53228	AAG		0.483	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			479	919	0	0	0	1	0	479	919					C	41400107	T	C	41400107	3	2	12	1	0	0	0	0	1	0	0	0	12862	1792	62	4	3842	4	PTPRT	20	41400107	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	8354838	41400107	21625413	224	1507											
C20orf165	128497	broad.mit.edu	37	chr20	44515437	44515437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcctcagagggtaccggtaGaacccgtggtgacagcccac	13	13	1	3			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:44515437G>C	ENST00000372519.3	-	2	447	c.403C>G	c.(403-405)Cta>Gta	p.L135V		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	135					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTACCGGTAGAACCCGTGGT	0.642																																						ENST00000372519.3																			0											c.(403-405)Cta>Gta		spermatogenesis associated 25							73	75	74					20																	44515437		2203	4300	6503	SO:0001583	missense	128497					integral to membrane		g.chr20:44515437G>C	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.403C>G	20.37:g.44515437G>C	ENSP00000361597:p.Leu135Val						p.L135V	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	447	-			135						Missense_Mutation	SNP	ENST00000372519.3	37	c.403C>G	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059144	0.08339	.	.	ENSG00000149634	ENST00000372519	T	0.49720	0.77	5.05	3.08	0.35506	.	0.341617	0.21429	N	0.074683	T	0.32823	0.0842	L	0.32530	0.975	0.20307	N	0.999914	B	0.11235	0.004	B	0.14023	0.01	T	0.24512	-1.0158	10	0.56958	D	0.05	0.2763	5.2616	0.15576	0.1783:0.1693:0.6525:0.0	.	135	Q9BR10	CT165_HUMAN	V	135	ENSP00000361597:L135V	ENSP00000361597:L135V	L	-	1	2	C20orf165	43948844	0.051000	0.20477	0.860000	0.33809	0.087000	0.18053	1.086000	0.30853	0.692000	0.31613	0.655000	0.94253	CTA		0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			9	644	0	0	0	1	0	9	644					C	44515437	G	C	44515437	3	2	12	1	0	0	0	0	1	0	0	0	2101	933	33	5	284	5	C20orf165	20	44515437	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	3115330	44515437	18510083	225	1508											
NFATC2	4773	broad.mit.edu	37	chr20	50071192	50071192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctgtgtcttgtcttTcaaccatgggcagctcgtga	11	10	4	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50071192T>C	ENST00000396009.3	-	6	1961	c.1742A>G	c.(1741-1743)gAa>gGa	p.E581G	NFATC2_ENST00000609507.1_Missense_Mutation_p.E362G|NFATC2_ENST00000610033.1_Missense_Mutation_p.E362G|NFATC2_ENST00000414705.1_Missense_Mutation_p.E561G|NFATC2_ENST00000609943.1_Missense_Mutation_p.E561G|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Missense_Mutation_p.E581G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	581					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTCTTGTCTTTCAACCATGGG	0.507																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1741-1743)gAa>gGa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							157	154	155					20																	50071192		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071192T>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1742A>G	20.37:g.50071192T>C	ENSP00000379330:p.Glu581Gly					NFATC2_ENST00000396009.3_Missense_Mutation_p.E581G|NFATC2_ENST00000414705.1_Missense_Mutation_p.E561G	p.E581G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1961	-	Hepatocellular(150;0.248)		581					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1742A>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858558	0.91433	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18810	2.19;2.19;2.21	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.80847	2.515	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.975;0.997;0.997	T	0.55535	-0.8126	10	0.87932	D	0	-16.2989	16.1506	0.81618	0.0:0.0:0.0:1.0	.	561;561;581;581	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	G	581;581;561	ENSP00000360619:E581G;ENSP00000379330:E581G;ENSP00000396471:E561G	ENSP00000360619:E581G	E	-	2	0	NFATC2	49504599	1.000000	0.71417	0.803000	0.32268	0.858000	0.48976	7.569000	0.82380	2.206000	0.71126	0.528000	0.53228	GAA		0.507	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		95	912	0	0	0	1	0	95	912					C	50071192	T	C	50071192	3	2	12	1	0	0	0	0	1	0	0	0	10404	1783	62	4	1103	4	NFATC2	20	50071192	Missense_Mutation	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	5555755	50071192	12954328	226	1509											
ATP9A	10079	broad.mit.edu	37	chr20	50310602	50310602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccgcagcttccagtccGtctccccatccagctgatcc	8	18	1	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50310602G>A	ENST00000338821.5	-	7	851	c.587C>T	c.(586-588)aCg>aTg	p.T196M	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	196					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCCAGTCCGTCTCCCCATC	0.632																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(586-588)aCg>aTg		ATPase, class II, type 9A							62	58	59					20																	50310602		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50310602G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.587C>T	20.37:g.50310602G>A	ENSP00000342481:p.Thr196Met					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.T196M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			7	851	-			196					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.587C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926993	0.92389	.	.	ENSG00000054793	ENST00000338821	D	0.91068	-2.78	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	D	0.98256	1.0496	10	0.87932	D	0	-16.7716	18.3987	0.90509	0.0:0.0:1.0:0.0	.	196	O75110	ATP9A_HUMAN	M	196	ENSP00000342481:T196M	ENSP00000342481:T196M	T	-	2	0	ATP9A	49744009	1.000000	0.71417	0.942000	0.38095	0.984000	0.73092	9.476000	0.97823	2.329000	0.79093	0.655000	0.94253	ACG		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		209	313	0	0	0	1	0	209	313					A	50310602	G	A	50310602	3	1	12	1	0	0	0	0	1	0	0	0	1199	1145	40	1	2644	1	ATP9A	20	50310602	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	239410	50310602	12714918	227	1510											
SALL4	57167	broad.mit.edu	37	chr20	50406795	50406795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgccctggcgctgcaGgttaaaaggggcaggaccca	14	12	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50406795G>T	ENST00000217086.4	-	2	2338	c.2227C>A	c.(2227-2229)Ctg>Atg	p.L743M	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	743					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCGCTGCAGGTTAAAAGGG	0.587																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2227-2229)Ctg>Atg		spalt-like transcription factor 4							52	46	48					20																	50406795		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406795G>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2227C>A	20.37:g.50406795G>T	ENSP00000217086:p.Leu743Met					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.L743M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2338	-			743					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2227C>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358272	0.24598	.	.	ENSG00000101115	ENST00000217086	T	0.10960	2.82	5.67	4.73	0.59995	.	0.000000	0.34603	N	0.003835	T	0.28896	0.0717	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01679	-1.1297	10	0.41790	T	0.15	-24.4419	8.8224	0.35034	0.2743:0.0:0.7257:0.0	.	743	Q9UJQ4	SALL4_HUMAN	M	743	ENSP00000217086:L743M	ENSP00000217086:L743M	L	-	1	2	SALL4	49840202	1.000000	0.71417	0.994000	0.49952	0.256000	0.26092	1.782000	0.38654	1.387000	0.46486	0.655000	0.94253	CTG		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			6	249	1	0	0.0215528	1	0.0220363	6	249					T	50406795	G	T	50406795	3	4	12	1	0	0	0	0	1	0	0	0	13863	991	35	3	946	3	SALL4	20	50406795	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	96193	50406795	12618725	228	1511											
LSM14B	149986	broad.mit.edu	37	chr20	60701382	60701382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgggttctgcctccgCctcgcccttccagccgcacg	9	20	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:60701382C>A	ENST00000279068.6	+	3	474	c.314C>A	c.(313-315)gCc>gAc	p.A105D	LSM14B_ENST00000253001.4_Missense_Mutation_p.A105D|LSM14B_ENST00000370915.1_Missense_Mutation_p.A105D	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	105					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCTGCCTCCGCCTCGCCCTTC	0.662																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(313-315)gCc>gAc		LSM14B, SCD6 homolog B (S. cerevisiae)							66	70	69					20																	60701382		2135	4229	6364	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701382C>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.314C>A	20.37:g.60701382C>A	ENSP00000279068:p.Ala105Asp					LSM14B_ENST00000279068.6_Missense_Mutation_p.A105D|LSM14B_ENST00000370915.1_Missense_Mutation_p.A105D	p.A105D			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	520	+	Breast(26;3.97e-09)		105					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.314C>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053093	0.55218	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.49720	0.77;0.79;0.91	5.42	4.46	0.54185	.	0.848322	0.10757	N	0.637597	T	0.41119	0.1145	L	0.29908	0.895	0.09310	N	0.999995	B;B;B	0.32425	0.181;0.361;0.371	B;B;B	0.30782	0.05;0.116;0.12	T	0.39121	-0.9629	10	0.72032	D	0.01	.	16.1344	0.81475	0.0:0.8661:0.1339:0.0	.	105;131;105	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	D	105;105;105;131;105	ENSP00000279068:A105D;ENSP00000253001:A105D;ENSP00000383172:A131D	ENSP00000253001:A105D	A	+	2	0	LSM14B	60134777	0.898000	0.30612	0.961000	0.40146	0.992000	0.81027	4.575000	0.60908	1.247000	0.43917	0.511000	0.50034	GCC		0.662	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		7	258	1	0	2.74318e-10	1	2.96635e-10	7	258					A	60701382	C	A	60701382	3	1	12	1	0	0	0	0	1	0	0	0	9093	739	26	3	324	3	LSM14B	20	60701382	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	10294587	60701382	2324138	229	1512											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	812						8	812	---	---	---	---	-	61833652	CCT	-	61833650	7	5	12	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-2J-AABP-01A-11D-A40W-08	1132268	61833650	1191870	230	1513											
PRPF6	57473	broad.mit.edu	37	chr20	62654185	62654185	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttccccagcaagaagAgtgtgtggctgcgcgccgcg	16	11	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:62654185A>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.S575C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCAAGAAGAGTGTGTGGCT	0.577																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1723-1725)Agt>Tgt		pre-mRNA processing factor 6							123	100	108					20																	62654185		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62654185A>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25872T>A	20.37:g.62654185A>T						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.S575C			O94906	PRP6_HUMAN			13	1834	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		575					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1723A>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235978	0.95240	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34859	1.34;1.34	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.70016	0.967;0.906	T	0.76366	-0.2985	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	575;575	O94906-2;O94906	.;PRP6_HUMAN	C	575	ENSP00000266079:S575C;ENSP00000446216:S575C	ENSP00000266079:S575C	S	+	1	0	PRPF6	62124629	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.936000	0.92931	2.271000	0.75665	0.459000	0.35465	AGT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		127	273	0	0	0	1	0	127	273					T	62654185	A	T	62654185	1	4	12	0	1	0	0	0	0	0	0	0	12621	304	11	5		5	PRPF6	20	62654185	Intron	SNP	A	TCGA-2J-AABP-01A-11D-A40W-08	820535	62654185	371335	231	1514											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692132	31692132	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaagaggtttcaagattGccggtctcacagtggaccgg	13	11	2	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:31692132G>T	ENST00000360542.3	-	1	475	c.222C>A	c.(220-222)ggC>ggA	p.G74G		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	74						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTTCAAGATTGCCGGTCTCAC	0.542																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(220-222)ggC>ggA		keratin associated protein 26-1							112	111	111					21																	31692132		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692132G>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.222C>A	21.37:g.31692132G>T							p.G74G	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	475	-			74					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.222C>A	CCDS13588.1																																																																																				0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		11	485	1	0	5.50884e-06	1	5.79973e-06	11	485					T	31692132	G	T	31692132	2	4	12	1	0	0	0	0	0	0	0	1	8574	1306	46	3		3	KRTAP26-1	21	31692132	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08		31692132	16437763	232	1515											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874370	31874370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaagcctccgtagccGtagcccaggcctccatagta	9	15	1	0	rs367860556		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:31874370G>A	ENST00000334151.2	-	1	65	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	13						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572																																						ENST00000334151.2																			0				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(37-39)taC>taT		keratin associated protein 19-5		G		1,4405	2.1+/-5.4	0,1,2202	141	117	125		39	-7.8	0	21		125	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	KRTAP19-5	NM_181611.1		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		13/73	31874370	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	337972					intermediate filament	protein binding	g.chr21:31874370G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.39C>T	21.37:g.31874370G>A							p.Y13Y	NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN			1	65	-			13					A4IF22	Silent	SNP	ENST00000334151.2	37	c.39C>T	CCDS13597.1																																																																																				0.572	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			5	418	0	0	0	1	0	5	418					A	31874370	G	A	31874370	2	1	12	1	0	0	0	0	0	0	0	1	8562	1140	40	1		1	KRTAP19-5	21	31874370	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	182238	31874370	16255525	233	1516											
TIAM1	7074	broad.mit.edu	37	chr21	32502566	32502566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaacctgcagcgcttccGtggggatcatgtgtcgaaat	12	11	1	0	rs372961799		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:32502566G>A	ENST00000286827.3	-	26	4481	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1277M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1337	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGCGCTTCCGTGGGGATCAT	0.483																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4009-4011)aCg>aTg		T-cell lymphoma invasion and metastasis 1		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	181	178	179		4010	6	0.3	21		179	0,8600		0,0,4300	no	missense	TIAM1	NM_003253.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1337/1592	32502566	2,13004	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32502566G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4010C>T	21.37:g.32502566G>A	ENSP00000286827:p.Thr1337Met					TIAM1_ENST00000541036.1_Missense_Mutation_p.T1277M	p.T1337M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			26	4481	-			1337			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4010C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604313	0.46423	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.44482	0.92;0.94	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.111603	0.64402	D	0.000013	T	0.36991	0.0987	M	0.63428	1.95	0.51233	D	0.999915	P;P;P	0.49185	0.92;0.869;0.869	B;B;B	0.36567	0.228;0.114;0.114	T	0.29971	-0.9994	10	0.42905	T	0.14	.	11.4504	0.50149	0.1069:0.0:0.8931:0.0	.	1277;1277;1337	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	M	1337;1277	ENSP00000286827:T1337M;ENSP00000441570:T1277M	ENSP00000286827:T1337M	T	-	2	0	TIAM1	31424437	1.000000	0.71417	0.262000	0.24481	0.653000	0.38743	7.331000	0.79192	2.854000	0.98071	0.655000	0.94253	ACG		0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		6	711	0	0	0	1	0	6	711					A	32502566	G	A	32502566	3	1	12	1	0	0	0	0	1	0	0	0	15942	1145	40	1	781	1	TIAM1	21	32502566	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	628196	32502566	15627329	234	1517											
SYNJ1	8867	broad.mit.edu	37	chr21	34003517	34003517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacttggctgattacccaGtaagtctgaacaagctgact	9	9	1	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:34003517G>A	ENST00000322229.7	-	31	4509	c.4510C>T	c.(4510-4512)Ctg>Ttg	p.L1504L	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1543L|SYNJ1_ENST00000382491.3_Silent_p.L1457L|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1504	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGATTACCCAGTAAGTCTGAA	0.423																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4369-4371)Ctg>Ttg		synaptojanin 1							129	125	126					21																	34003517		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003517G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4510C>T	21.37:g.34003517G>A						SYNJ1_ENST00000433931.2_Silent_p.L1543L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.L1504L	p.L1457L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4493	-			1504			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4369C>T	CCDS54484.1																																																																																				0.423	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	380	0	0	0	1	0	5	380					A	34003517	G	A	34003517	2	1	12	1	0	0	0	0	0	0	0	1	15504	1020	36	2		2	SYNJ1	21	34003517	Silent	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	1500951	34003517	14126378	235	1518											
POTEH	23784	broad.mit.edu	37	chr22	16287662	16287662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacgttgctcttgccgCtccccctgcaccaggggaag	11	17	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:16287662C>A	ENST00000343518.6	-	1	275	c.224G>T	c.(223-225)aGc>aTc	p.S75I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	75										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCTCTTGCCGCTCCCCCTGCA	0.582																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(223-225)aGc>aTc		POTE ankyrin domain family, member H							85	99	94					22																	16287662		2085	3878	5963	SO:0001583	missense	23784							g.chr22:16287662C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.224G>T	22.37:g.16287662C>A	ENSP00000340610:p.Ser75Ile						p.S75I	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	275	-			75					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.224G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.532	1.111140	0.20714	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.34667	1.35	.	.	.	.	.	.	.	.	T	0.33527	0.0866	L	0.52573	1.65	0.09310	N	1	P	0.39520	0.676	B	0.42959	0.403	T	0.25398	-1.0133	7	0.87932	D	0	.	.	.	.	.	75	Q6S545	POTEH_HUMAN	I	75	ENSP00000340610:S75I	ENSP00000340610:S75I	S	-	2	0	POTEH	14667662	0.005000	0.15991	0.073000	0.20177	0.074000	0.17049	0.275000	0.18698	0.149000	0.19098	0.152000	0.16155	AGC		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		13	1329	1	0	0.000602214	1	0.000619698	13	1329					A	16287662	C	A	16287662	3	1	12	1	0	0	0	0	1	0	0	0	12309	797	28	3	1453	3	POTEH	22	16287662	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		16287662	35016904	236	1519											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag					rs374794651		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	153						7	153	---	---	---	---	-	20918918	CAG	-	20918916	7	5	12	1	0	1	0	1	0	0	0	0	9474	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-2J-AABP-01A-11D-A40W-08	4631254	20918916	30385650	237	1520											
C22orf42	150297	broad.mit.edu	37	chr22	32546430	32546430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatgaagtcttcaagaCagacagataggctttcactg	9	8	4	4			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:32546430C>G	ENST00000382097.3	-	7	602	c.530G>C	c.(529-531)tGt>tCt	p.C177S	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	177										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GTCTTCAAGACAGACAGATAG	0.463																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(529-531)tGt>tCt		chromosome 22 open reading frame 42							126	111	116					22																	32546430		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546430C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.530G>C	22.37:g.32546430C>G	ENSP00000371529:p.Cys177Ser						p.C177S	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			7	602	-			177					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.530G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	c	2.431	-0.330807	0.05314	.	.	ENSG00000205856	ENST00000382097	T	0.20881	2.04	.	.	.	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	P	0.37500	0.597	B	0.39119	0.291	T	0.23226	-1.0194	7	0.87932	D	0	.	.	.	.	.	177	Q6IC83	CV042_HUMAN	S	177	ENSP00000371529:C177S	ENSP00000371529:C177S	C	-	2	0	C22orf42	30876430	0.010000	0.17322	0.023000	0.16930	0.108000	0.19459	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	TGT		0.463	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		6	588	0	0	0	1	0	6	588					G	32546430	C	G	32546430	3	3	12	1	0	0	0	0	1	0	0	0	2156	478	17	5	237	5	C22orf42	22	32546430	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	11627514	32546430	18758136	238	1521											
TMPRSS6	164656	broad.mit.edu	37	chr22	37465248	37465248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgagctgcagcagcgccaCgtcgtagtcatggctgtcct	13	13	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:37465248C>T	ENST00000346753.3	-	16	2121	c.2005G>A	c.(2005-2007)Gtg>Atg	p.V669M	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V660M	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	669	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCAGCGCCACGTCGTAGTCA	0.692																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1978-1980)Gtg>Atg		transmembrane protease, serine 6							38	37	38					22																	37465248		2198	4296	6494	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37465248C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2005G>A	22.37:g.37465248C>T	ENSP00000334962:p.Val669Met					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.V669M	p.V660M			Q8IU80	TMPS6_HUMAN			16	2118	-			669			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1978G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364687	0.82463	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.83	4.83	0.62350	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272317	0.30667	N	0.009123	D	0.95990	0.8694	L	0.61218	1.895	0.48762	D	0.999704	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.971	D	0.96633	0.9468	10	0.87932	D	0	.	17.9247	0.88979	0.0:1.0:0.0:0.0	.	660;669	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	M	660;669;660;660	ENSP00000371211:V660M;ENSP00000334962:V669M;ENSP00000385453:V660M;ENSP00000384964:V660M	ENSP00000334962:V669M	V	-	1	0	TMPRSS6	35795194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.672000	0.46850	2.215000	0.71742	0.561000	0.74099	GTG		0.692	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		18	60	0	0	0	1	0	18	60					T	37465248	C	T	37465248	3	4	12	1	0	0	0	0	1	0	0	0	16303	536	19	1	442	1	TMPRSS6	22	37465248	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4918818	37465248	13839318	239	1522											
TMPRSS6	164656	broad.mit.edu	37	chr22	37485772	37485772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccaggtggtcaggccCcttcagccggaggacctggc	17	13	2	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:37485772C>A	ENST00000346753.3	-	7	825	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G228W|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G237W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G228W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	237	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTCAGGCCCCTTCAGCCGG	0.667																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(682-684)Ggg>Tgg		transmembrane protease, serine 6							19	20	20					22																	37485772		2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485772C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.709G>T	22.37:g.37485772C>A	ENSP00000334962:p.Gly237Trp					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G237W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G237W	p.G228W			Q8IU80	TMPS6_HUMAN			7	822	-			237			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.682G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140504	0.77775	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92149	-2.98;-2.98;-2.97;-2.98;-1.0	4.57	4.57	0.56435	CUB (1);	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94893	0.8049	10	0.72032	D	0.01	.	17.7056	0.88308	0.0:1.0:0.0:0.0	.	237;228;237	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	W	228;237;228;228;237	ENSP00000371211:G228W;ENSP00000334962:G237W;ENSP00000385453:G228W;ENSP00000384964:G228W;ENSP00000397691:G237W	ENSP00000334962:G237W	G	-	1	0	TMPRSS6	35815718	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.170000	0.64990	2.234000	0.73211	0.455000	0.32223	GGG		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		4	92	1	0	0.150653	1	0.152084	4	92					A	37485772	C	A	37485772	3	1	12	1	0	0	0	0	1	0	0	0	16303	623	22	3	1774	3	TMPRSS6	22	37485772	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	20524	37485772	13818794	240	1523											
TRIOBP	11078	broad.mit.edu	37	chr22	38120694	38120694	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acgatcccagagcctcctctCctaacagaaccacccaacaa	4	18	1	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:38120694C>G	ENST00000406386.3	+	7	2386	c.2131C>G	c.(2131-2133)Cct>Gct	p.P711A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	711					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCCTAACAGAAC	0.582																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2131-2133)Cct>Gct		TRIO and F-actin binding protein							169	183	178					22																	38120694		1943	4148	6091	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120694C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2131C>G	22.37:g.38120694C>G	ENSP00000384312:p.Pro711Ala					RP1-37E16.12_ENST00000455236.1_RNA	p.P711A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2386	+	Melanoma(58;0.0574)		711					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2131C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969543	0.53614	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22134	1.97	4.79	2.66	0.31614	.	.	.	.	.	T	0.21550	0.0519	M	0.65975	2.015	0.24886	N	0.992199	B	0.26363	0.147	B	0.17979	0.02	T	0.17349	-1.0372	9	0.66056	D	0.02	.	7.4127	0.27025	0.0:0.7964:0.0:0.2036	.	711	Q9H2D6	TARA_HUMAN	A	711	ENSP00000384312:P711A	ENSP00000384312:P711A	P	+	1	0	TRIOBP	36450640	0.612000	0.27000	0.241000	0.24154	0.008000	0.06430	1.240000	0.32731	1.257000	0.44085	0.558000	0.71614	CCT		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	515	0	0	0	1	0	7	515					G	38120694	C	G	38120694	3	3	12	1	0	0	0	0	1	0	0	0	16606	855	30	5	2149	5	TRIOBP	22	38120694	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	634922	38120694	13183872	241	1524											
MCHR1	2847	broad.mit.edu	37	chr22	41077549	41077549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgtggtcatcacagccGcatacgtgaggatcctgcag	11	11	2	1	rs149149384	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:41077549G>A	ENST00000249016.4	+	2	1582	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	296					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCACAGCCGCATACGTGAG	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21878	0.0		0.0	False		,,,				2504	0.0					ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(886-888)Gca>Aca		melanin-concentrating hormone receptor 1		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	119	82	94		886	5.2	0.2	22	dbSNP_134	94	0,8600		0,0,4300	yes	missense	MCHR1	NM_005297.3	58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	296/423	41077549	4,13002	2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077549G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.886G>A	22.37:g.41077549G>A	ENSP00000249016:p.Ala296Thr					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	p.A296T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1582	+			296					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.886G>A	CCDS14004.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.88	3.244003	0.58995	9.08E-4	0.0	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.36699	1.24;1.24	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.050191	0.85682	D	0.000000	T	0.44664	0.1304	N	0.22421	0.69	0.43761	D	0.996275	D	0.71674	0.998	P	0.62184	0.899	T	0.45160	-0.9280	10	0.72032	D	0.01	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	296	Q99705	MCHR1_HUMAN	T	296;170	ENSP00000249016:A296T;ENSP00000370841:A170T	ENSP00000249016:A296T	A	+	1	0	MCHR1	39407495	1.000000	0.71417	0.205000	0.23548	0.373000	0.29922	6.723000	0.74742	2.607000	0.88179	0.655000	0.94253	GCA		0.622	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		5	494	0	0	0	1	0	5	494					A	41077549	G	A	41077549	3	1	12	1	0	0	0	0	1	0	0	0	9423	1087	38	1	892	1	MCHR1	22	41077549	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	2956855	41077549	10227017	242	1525											
ZC3H7B	23264	broad.mit.edu	37	chr22	41739536	41739536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagcggatccggccccGgcccactaagaccagcttcg	12	16	0	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:41739536G>A	ENST00000352645.4	+	13	1672	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R472Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	488					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATCCGGCCCCGGCCCACTAAG	0.682																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1414-1416)cGg>cAg		zinc finger CCCH-type containing 7B							23	25	24					22																	41739536		2203	4298	6501	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739536G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1415G>A	22.37:g.41739536G>A	ENSP00000345793:p.Arg472Gln					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R472Q	p.R472Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			13	1672	+			488					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1415G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944632	0.97134	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.16457	2.34;2.34	5.58	5.58	0.84498	.	0.111269	0.64402	N	0.000009	T	0.41534	0.1163	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.13656	-1.0501	10	0.72032	D	0.01	-30.3364	19.5687	0.95404	0.0:0.0:1.0:0.0	.	472	Q9UGR2-2	.	Q	472	ENSP00000345793:R472Q;ENSP00000263243:R472Q	ENSP00000263243:R472Q	R	+	2	0	ZC3H7B	40069482	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.790000	0.99075	2.640000	0.89533	0.491000	0.48974	CGG		0.682	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		11	142	0	0	0	1	0	11	142					A	41739536	G	A	41739536	3	1	12	1	0	0	0	0	1	0	0	0	17626	1116	39	1	1461	1	ZC3H7B	22	41739536	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	661987	41739536	9565030	243	1526											
ARSA	410	broad.mit.edu	37	chr22	51063767	51063767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggccccggccacacCccccagcaggttgtagttct	13	15	1	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:51063767C>T	ENST00000547307.1	-	8	1735	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	ARSA_ENST00000356098.5_Missense_Mutation_p.G446S|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000216124.5_Missense_Mutation_p.G446S|ARSA_ENST00000453344.2_Missense_Mutation_p.G360S|ARSA_ENST00000547805.1_Missense_Mutation_p.G444S|ARSA_ENST00000395621.3_Missense_Mutation_p.G446S|ARSA_ENST00000395619.3_Missense_Mutation_p.G446S			P15289	ARSA_HUMAN	arylsulfatase A	444					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCGGCCACACCCCCCAGCAGG	0.637																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1330-1332)Ggt>Agt		arylsulfatase A	Micafungin(DB01141)						47	54	52					22																	51063767		2203	4297	6500	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063767C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1330G>A	22.37:g.51063767C>T	ENSP00000448440:p.Gly444Ser					ARSA_ENST00000216124.5_Missense_Mutation_p.G446S|ARSA_ENST00000356098.5_Missense_Mutation_p.G446S|ARSA_ENST00000453344.2_Missense_Mutation_p.G360S|ARSA_ENST00000547805.1_Missense_Mutation_p.G444S|ARSA_ENST00000395619.3_Missense_Mutation_p.G446S|ARSA_ENST00000395621.3_Missense_Mutation_p.G446S	p.G444S			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1735	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	444					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.1330G>A		.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214658	0.06101	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.27	-3.97	0.04094	Alkaline-phosphatase-like, core domain (1);	1.330700	0.04749	N	0.424127	D	0.86096	0.5851	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77101	-0.2712	10	0.07482	T	0.82	.	7.418	0.27055	0.0:0.2827:0.1285:0.5888	.	444	P15289	ARSA_HUMAN	S	446;446;444;444;446;360;446	ENSP00000348406:G446S;ENSP00000216124:G446S;ENSP00000448440:G444S;ENSP00000448932:G444S;ENSP00000378983:G446S;ENSP00000412542:G360S;ENSP00000378981:G446S	ENSP00000216124:G446S	G	-	1	0	ARSA	49410633	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-0.602000	0.05680	-0.852000	0.04141	0.467000	0.42956	GGT		0.637	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		50	504	0	0	0	1	0	50	504					T	51063767	C	T	51063767	3	4	12	1	0	0	0	0	1	0	0	0	988	623	22	2	197	2	ARSA	22	51063767	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	9324231	51063767	240799	244	1527											
ACE2	59272	broad.mit.edu	37	chrX	15603621	15603621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccattgcatcagtaaCatctatgtttggtttctgtc	7	10	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:15603621C>T	ENST00000252519.3	-	7	979	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ACE2_ENST00000427411.1_Missense_Mutation_p.V293I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	293					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GCATCAGTAACATCTATGTTT	0.323																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(877-879)Gtt>Att		angiotensin I converting enzyme 2	Moexipril(DB00691)						141	135	137					X																	15603621		2203	4299	6502	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15603621C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.877G>A	X.37:g.15603621C>T	ENSP00000252519:p.Val293Ile					ACE2_ENST00000252519.3_Missense_Mutation_p.V293I	p.V293I	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			8	1093	-	Hepatocellular(33;0.183)		293					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.877G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222459	0.79464	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.36520	1.25;1.25	5.64	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.76170	2.325	0.40289	D	0.978489	P	0.50369	0.934	P	0.61533	0.89	T	0.59910	-0.7365	10	0.48119	T	0.1	-17.8728	13.6792	0.62474	0.0:0.9236:0.0:0.0764	.	293	Q9BYF1	ACE2_HUMAN	I	293	ENSP00000252519:V293I;ENSP00000389326:V293I	ENSP00000252519:V293I	V	-	1	0	ACE2	15513542	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.876000	0.69667	1.138000	0.42230	0.594000	0.82650	GTT		0.323	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			29	604	0	0	0	1	0	29	604					T	15603621	C	T	15603621	3	4	12	1	0	0	0	0	1	0	0	0	137	478	17	2	1588	2	ACE2	23	15603621	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08		15603621	139666939	245	1528											
DGKK	139189	broad.mit.edu	37	chrX	50213427	50213427	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggccggctctgtggctggtTctggggtcggttctgtgtac	17	9	3	0			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:50213427T>A	ENST00000376025.2	-	0	310							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					tgtggctggttctggggtcgg	0.642																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							77	90	86					X																	50213427		1869	4079	5948			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213427T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213427T>A										Q5KSL6	DGKK_HUMAN			0	310	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.642	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		8	652	0	0	0	1	0	8	652					A	50213427	T	A	50213427	1	1	12	0	1	0	0	0	0	0	0	0	4488	1783	62	5		5	DGKK	23	50213427	RNA	SNP	T	TCGA-2J-AABP-01A-11D-A40W-08	34609806	50213427	105057133	246	1529											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		12	749						12	749	---	---	---	---	-	54011407	CTC	-	54011405	7	5	12	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-2J-AABP-01A-11D-A40W-08	3797978	54011405	101259155	247	1530											
ACRC	93953	broad.mit.edu	37	chrX	70824002	70824002	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgacgacagcagtgatgattCggaagcttccgacgacagca	12	11	0	2			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:70824002C>G	ENST00000373695.1	+	7	1412	c.875C>G	c.(874-876)tCg>tGg	p.S292W	ACRC_ENST00000373696.3_Missense_Mutation_p.S292W			Q96QF7	ACRC_HUMAN	acidic repeat containing	292	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCGGAAGCTTCC	0.527																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(874-876)tCg>tGg		acidic repeat containing							118	114	115					X																	70824002		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824002C>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.875C>G	X.37:g.70824002C>G	ENSP00000362799:p.Ser292Trp					ACRC_ENST00000373696.3_Missense_Mutation_p.S292W	p.S292W			Q96QF7	ACRC_HUMAN			7	1412	+	Renal(35;0.156)		292			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.875C>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	4.460	0.085121	0.08583	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.33654	1.4;1.4	0.14	0.14	0.14804	.	.	.	.	.	T	0.16811	0.0404	N	0.12182	0.205	0.09310	N	1	D	0.63046	0.992	B	0.41332	0.354	T	0.12656	-1.0539	9	0.59425	D	0.04	.	2.9227	0.05774	0.4915:0.5081:2.0E-4:2.0E-4	.	292	Q96QF7	ACRC_HUMAN	W	292	ENSP00000362800:S292W;ENSP00000362799:S292W	ENSP00000362799:S292W	S	+	2	0	ACRC	70740727	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.643000	0.02004	0.168000	0.19655	0.169000	0.16792	TCG		0.527	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			22	959	0	0	0	1	0	22	959					G	70824002	C	G	70824002	3	3	12	1	0	0	0	0	1	0	0	0	171	893	31	5	901	5	ACRC	23	70824002	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	16812597	70824002	84446558	248	1531											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		14	698						14	698	---	---	---	---	-	102004421	GAG	-	102004419	7	5	12	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-2J-AABP-01A-11D-A40W-08	31180417	102004419	53266141	249	1532											
GLRA4	441509	broad.mit.edu	37	chrX	102974161	102974161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatagtagcccatctgccGttccaggtgaaactttacct	8	12	1	2	rs200072403		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:102974161G>A	ENST00000372617.4	-	7	1177	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	253						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)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCCATCTGCCGTTCCAGGTGA	0.557																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(757-759)Cgg>Tgg		glycine receptor, alpha 4		G	TRP/ARG,TRP/ARG	0,3835		0,0,0,1632,571	136	139	138		757,757	3.7	1	X		138	2,6725		0,1,1,2427,1870	no	missense,missense	GLRA4	NM_001024452.2,NM_001172285.1	101,101	0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging	253/418,253/343	102974161	2,10560	2203	4299	6502	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:102974161G>A	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.757C>T	X.37:g.102974161G>A	ENSP00000361700:p.Arg253Trp						p.R253W	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			7	1177	-			253						Missense_Mutation	SNP	ENST00000372617.4	37	c.757C>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624096	0.66901	0.0	2.97E-4	ENSG00000188828	ENST00000372617	D	0.96830	-4.14	5.5	3.71	0.42584	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98485	0.9495	H	0.96576	3.845	0.48830	D	0.999719	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97601	1.0123	10	0.87932	D	0	.	8.104	0.30874	0.0:0.1517:0.5292:0.3191	.	253;212	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	W	253	ENSP00000361700:R253W	ENSP00000361700:R253W	R	-	1	2	GLRA4	102860817	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	0.956000	0.29202	0.592000	0.29728	0.600000	0.82982	CGG		0.557	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		7	608	0	0	0	1	0	7	608					A	102974161	G	A	102974161	3	1	12	1	0	0	0	0	1	0	0	0	6486	1144	40	1	603	1	GLRA4	23	102974161	Missense_Mutation	SNP	G	TCGA-2J-AABP-01A-11D-A40W-08	969742	102974161	52296399	250	1533											
ZBTB33	10009	broad.mit.edu	37	chrX	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-													aggaggaggaggaaataataGatgatgatgatgacactatt							TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)gatdel	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1006-1008)del		zinc finger and BTB domain containing 33																																				SO:0001651	inframe_deletion	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388276_119388278delGAT	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1006_1008delGAT	X.37:g.119388285_119388287delGAT	ENSP00000314153:p.Asp340del					ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1234_1236	+			340					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Del	DEL	ENST00000326624.2	37	c.1006_1008delGAT	CCDS14596.1																																																																																				0.433	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		9	468						9	468	---	---	---	---	-	119388278	GAT	-	119388276	7	5	12	1	0	1	0	1	0	0	0	0	17589	942	33	0	1008	0	ZBTB33	23	119388276	In_Frame_Del	DEL	GAT	TCGA-2J-AABP-01A-11D-A40W-08	16414115	119388276	35882284	251	1534											
ODZ1	10178	broad.mit.edu	37	chrX	123514403	123514403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttacctcctgcctatttCgctctgtctcataaagtgaa	6	11	2	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:123514403C>T	ENST00000371130.3	-	31	8224	c.8161G>A	c.(8161-8163)Gaa>Aaa	p.E2721K	TENM1_ENST00000422452.2_Missense_Mutation_p.E2728K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2721					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGCCTATTTCGCTCTGTCTC	0.373													C|||	1	0.000264901	0.0	0.0	3775	,	,		14561	0.0		0.0	False		,,,				2504	0.001					ENST00000422452.2																			0											c.(8182-8184)Gaa>Aaa		teneurin transmembrane protein 1							88	83	85					X																	123514403		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514403C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8161G>A	X.37:g.123514403C>T	ENSP00000360171:p.Glu2721Lys					TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K|STAG2_ENST00000469481.1_Intron	p.E2728K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8245	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8182G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153130	0.78001	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.981;0.991	D	0.90341	0.4359	10	0.37606	T	0.19	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2727;2728;2721	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2721;2728	ENSP00000360171:E2721K;ENSP00000403954:E2728K	ENSP00000360171:E2721K	E	-	1	0	ODZ1	123342084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		30	281	0	0	0	1	0	30	281					T	123514403	C	T	123514403	3	4	12	1	0	0	0	0	1	0	0	0	10876	893	31	1	20	1	ODZ1	23	123514403	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	4126127	123514403	31756157	252	1535											
OCRL	4952	broad.mit.edu	37	chrX	128721077	128721077	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctagtagatcacctattCaaatacgcctgtcaccaggt	6	12	4	1			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:128721077C>T	ENST00000371113.4	+	20	2403	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	OCRL_ENST00000357121.5_Silent_p.F738F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	746	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATCACCTATTCAAATACGCCT	0.468																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2236-2238)ttC>ttT		oculocerebrorenal syndrome of Lowe							142	128	133					X																	128721077		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128721077C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2238C>T	X.37:g.128721077C>T						OCRL_ENST00000357121.5_Silent_p.F738F	p.F746F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			20	2403	+			746			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2238C>T	CCDS35393.1																																																																																				0.468	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		8	509	0	0	0	1	0	8	509					T	128721077	C	T	128721077	2	4	12	1	0	0	0	0	0	0	0	1	10865	825	29	2		2	OCRL	23	128721077	Silent	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	5206674	128721077	26549483	253	1536											
CTAG2	30848	broad.mit.edu	37	chrX	153880703	153880703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcccctccggggaggCggatcccagcccccaaccca	10	19	1	0	rs199533324		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:153880703C>T	ENST00000247306.4	-	2	535	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	158						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGGGGAGGCGGATCCCAGC	0.627																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(472-474)Gcc>Acc		cancer/testis antigen 2							88	85	86					X																	153880703		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880703C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.472G>A	X.37:g.153880703C>T	ENSP00000247306:p.Ala158Thr					CTAG2_ENST00000369585.3_Intron	p.A158T	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			2	535	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		158					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.472G>A	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	C	4.689	0.128137	0.08981	.	.	ENSG00000126890	ENST00000247306	T	0.28666	1.6	1.96	-1.18	0.09617	.	.	.	.	.	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.24155	0.051	T	0.20240	-1.0281	9	0.87932	D	0	-0.3083	5.2476	0.15506	0.0:0.4782:0.0:0.5218	.	158	O75638	CTAG2_HUMAN	T	158	ENSP00000247306:A158T	ENSP00000247306:A158T	A	-	1	0	CTAG2	153533897	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	-0.015000	0.12634	-0.500000	0.06614	-0.425000	0.05940	GCC		0.627	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		50	574	0	0	0	1	0	50	574					T	153880703	C	T	153880703	3	4	12	1	0	0	0	0	1	0	0	0	4002	768	27	1	303	1	CTAG2	23	153880703	Missense_Mutation	SNP	C	TCGA-2J-AABP-01A-11D-A40W-08	25159626	153880703	1389857	254	1537											
PRDM2	7799	broad.mit.edu	37	chr1	14108559	14108560	+	Frame_Shift_Ins	INS	-	-	A													tcaaattaaatgcattgaagINSaaaaaaaatcagctagtaca							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:14108559_14108560insA	ENST00000235372.7	+	8	5125_5126	c.4269_4270insA	c.(4270-4272)aaafs	p.K1424fs	PRDM2_ENST00000413440.1_Frame_Shift_Ins_p.K1223fs|PRDM2_ENST00000343137.4_Frame_Shift_Ins_p.K1223fs|PRDM2_ENST00000311066.5_Frame_Shift_Ins_p.K1424fs|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1424	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATGCATTGAAGAAAAAAAATCA	0.396																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4267-4272)aaaaaafs		PR domain containing 2, with ZNF domain																																				SO:0001589	frameshift_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108559_14108560insA	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4277dupA	1.37:g.14108567_14108567dupA	ENSP00000235372:p.Lys1424fs					PRDM2_ENST00000413440.1_Frame_Shift_Ins_p.KK1222fs|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Frame_Shift_Ins_p.KK1222fs|PRDM2_ENST00000311066.5_Frame_Shift_Ins_p.KK1423fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	p.KK1423fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5125_5126	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1423			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Ins	INS	ENST00000235372.7	37	c.4269_4270insA	CCDS150.1																																																																																				0.396	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	586						7	586	---	---	---	---	A	14108560	-	A	14108559	7	5	13	1	0	1	1	0	0	0	0	0	12505	933	33	0	4295	0	PRDM2	1	14108559	Frame_Shift_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08		14108559	235142062	1	1538											
HIVEP3	59269	broad.mit.edu	37	chr1	42046110	42046110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgccttggaagcctcCtcctccttcactcttttttg	5	15	4	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:42046110C>T	ENST00000372583.1	-	4	5244	c.4359G>A	c.(4357-4359)gaG>gaA	p.E1453E	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.E1453E|HIVEP3_ENST00000429157.2_Silent_p.E1453E|HIVEP3_ENST00000247584.5_Silent_p.E1453E	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1453					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAAGCCTCCTCCTCCTTCA	0.512																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4357-4359)gaG>gaA		human immunodeficiency virus type I enhancer binding protein 3							110	111	110					1																	42046110		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046110C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4359G>A	1.37:g.42046110C>T						HIVEP3_ENST00000429157.2_Silent_p.E1453E|HIVEP3_ENST00000372583.1_Silent_p.E1453E|HIVEP3_ENST00000247584.5_Silent_p.E1453E	p.E1453E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5373	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1453					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.4359G>A	CCDS463.1																																																																																				0.512	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		19	684	0	0	0	1	0	19	684					T	42046110	C	T	42046110	2	4	13	1	0	0	0	0	0	0	0	1	7218	680	24	2		2	HIVEP3	1	42046110	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	27937551	42046110	207204511	2	1539											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484833	45484833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgtagagccagtgtgcGagcacagctagccagttcct	11	12	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:45484833G>A	ENST00000359600.5	-	14	3056	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	951						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCAGTGTGCGAGCACAGCTA	0.542											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2851-2853)Cgc>Tgc		zinc finger, SWIM-type containing 5							55	56	56					1																	45484833		2036	4192	6228	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484833G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2851C>T	1.37:g.45484833G>A	ENSP00000352614:p.Arg951Cys		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.R951C	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	3056	-	Acute lymphoblastic leukemia(166;0.155)		951					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2851C>T	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871440	0.51695	.	.	ENSG00000162415	ENST00000359600	T	0.52295	0.67	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.68693	-0.5341	10	0.52906	T	0.07	-7.752	18.6023	0.91253	0.0:0.0:1.0:0.0	.	951	Q9P217	ZSWM5_HUMAN	C	951	ENSP00000352614:R951C	ENSP00000352614:R951C	R	-	1	0	ZSWIM5	45257420	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.475000	0.60210	2.558000	0.86282	0.555000	0.69702	CGC		0.542	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		4	210	0	0	0	1	0	4	210					A	45484833	G	A	45484833	3	1	13	1	0	0	0	0	1	0	0	0	18297	1058	37	1	710	1	ZSWIM5	1	45484833	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	3438723	45484833	203765788	3	1540											
AKR1A1	10327	broad.mit.edu	37	chr1	46032622	46032622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtggagcctgccctcCggaagactctggctgacctc	13	13	1	2	rs201384732		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:46032622C>T	ENST00000372070.3	+	5	1033	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R96W|AKR1A1_ENST00000471651.1_Missense_Mutation_p.R96W	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	96					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GCCTGCCCTCCGGAAGACTCT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21815	0.0		0.0	False		,,,				2504	0.0					ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(286-288)Cgg>Tgg		aldo-keto reductase family 1, member A1 (aldehyde reductase)							100	85	90					1																	46032622		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032622C>T	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.286C>T	1.37:g.46032622C>T	ENSP00000361140:p.Arg96Trp					AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R96W	p.R96W	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			5	1033	+	Acute lymphoblastic leukemia(166;0.155)		96					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.286C>T	CCDS523.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.21	2.468661	0.43839	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.31510	1.49;1.49;1.49	6.01	2.85	0.33270	NADP-dependent oxidoreductase domain (3);	0.201358	0.43260	D	0.000588	T	0.44477	0.1295	L	0.56769	1.78	0.45272	D	0.998272	D	0.76494	0.999	D	0.64877	0.93	T	0.36383	-0.9750	10	0.87932	D	0	.	7.8215	0.29290	0.528:0.3896:0.0:0.0824	.	96	P14550	AK1A1_HUMAN	W	96	ENSP00000361140:R96W;ENSP00000398414:R96W;ENSP00000312606:R96W	ENSP00000312606:R96W	R	+	1	2	AKR1A1	45805209	0.997000	0.39634	0.988000	0.46212	0.032000	0.12392	3.428000	0.52792	0.863000	0.35553	-0.151000	0.13558	CGG		0.607	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		12	240	0	0	0	1	0	12	240					T	46032622	C	T	46032622	3	4	13	1	0	0	0	0	1	0	0	0	465	643	23	1	296	1	AKR1A1	1	46032622	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	547789	46032622	203217999	4	1541											
ASB17	127247	broad.mit.edu	37	chr1	76397669	76397669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggattaccttttctgGcaaaaacccagtacagaatt	7	9	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:76397669G>A	ENST00000284142.6	-	1	447	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	103					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACCTTTTCTGGCAAAAACCCA	0.363																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(307-309)gCc>gTc		ankyrin repeat and SOCS box containing 17							74	73	74					1																	76397669		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397669G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.308C>T	1.37:g.76397669G>A	ENSP00000284142:p.Ala103Val						p.A103V	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	447	-			103					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.308C>T	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491404	0.64074	.	.	ENSG00000154007	ENST00000284142	T	0.72942	-0.7	5.97	4.12	0.48240	Ankyrin repeat-containing domain (1);	0.224222	0.31199	N	0.008062	T	0.33702	0.0872	N	0.14661	0.345	0.35076	D	0.762901	B	0.11235	0.004	B	0.08055	0.003	T	0.14200	-1.0481	10	0.49607	T	0.09	.	8.9981	0.36066	0.168:0.0:0.832:0.0	.	103	Q8WXJ9	ASB17_HUMAN	V	103	ENSP00000284142:A103V	ENSP00000284142:A103V	A	-	2	0	ASB17	76170257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.847000	0.39299	0.876000	0.35872	0.655000	0.94253	GCC		0.363	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		5	228	0	0	0	1	0	5	228					A	76397669	G	A	76397669	3	1	13	1	0	0	0	0	1	0	0	0	1022	1203	42	2	591	2	ASB17	1	76397669	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	30365047	76397669	172852952	5	1542											
TPR	7175	broad.mit.edu	37	chr1	186328936	186328936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggaaccaaccttcaTagcttgttcaagcttaacag	8	9	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:186328936T>C	ENST00000367478.4	-	12	1680	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	462	Necessary for association to the NPC.				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)			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)		CCAACCTTCATAGCTTGTTCA	0.368			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(1384-1386)Atg>Gtg		translocated promoter region, nuclear basket protein							122	106	111					1																	186328936		1841	4091	5932	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.chr1:186328936T>C	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.1384A>G	1.37:g.186328936T>C	ENSP00000356448:p.Met462Val					TPR_ENST00000474852.1_5'UTR	p.M462V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	12	1680	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	462					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1384A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.369874	0.24771	.	.	ENSG00000047410	ENST00000367478	T	0.00940	5.52	5.76	5.76	0.90799	.	0.176337	0.64402	D	0.000009	T	0.00906	0.0030	N	0.16656	0.425	0.45690	D	0.998602	B;B	0.21753	0.06;0.025	B;B	0.22386	0.039;0.008	T	0.61515	-0.7047	10	0.08381	T	0.77	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	462;462	Q15624;P12270	.;TPR_HUMAN	V	462	ENSP00000356448:M462V	ENSP00000356448:M462V	M	-	1	0	TPR	184595559	0.998000	0.40836	0.993000	0.49108	0.996000	0.88848	2.901000	0.48695	2.194000	0.70268	0.528000	0.53228	ATG		0.368	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		15	267	0	0	0	1	0	15	267					C	186328936	T	C	186328936	3	2	13	1	0	0	0	0	1	0	0	0	16469	1406	49	4	5867	4	TPR	1	186328936	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	109931267	186328936	62921685	6	1543											
C1orf131	128061	broad.mit.edu	37	chr1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-													tttcttcttcctttgctgccTttttttctttaatttgctcc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:231362513delT	ENST00000366649.2	-	5	690	c.665delA	c.(664-666)aagfs	p.K222fs	C1orf131_ENST00000318906.2_Frame_Shift_Del_p.K222fs|C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	222	Lys-rich.						poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CTTTGCTGCCTTTTTTTCTTT	0.373																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(664-666)agfs		chromosome 1 open reading frame 131							163	159	161					1																	231362513		2203	4300	6503	SO:0001589	frameshift_variant	128061							g.chr1:231362513delT	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.665delA	1.37:g.231362513delT	ENSP00000355609:p.Lys222fs					C1orf131_ENST00000366649.2_Frame_Shift_Del_p.K222fs|C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs	p.K222fs			Q8NDD1	CA131_HUMAN			5	693	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	222			Lys-rich.		Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Frame_Shift_Del	DEL	ENST00000366649.2	37	c.665delA	CCDS1591.2																																																																																				0.373	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		8	621						8	621	---	---	---	---	-	231362513	T	-	231362513	7	5	13	1	0	1	0	1	0	0	0	0	2005	1609	56	0	228	0	C1orf131	1	231362513	Frame_Shift_Del	DEL	T	TCGA-2J-AABR-01A-11D-A40W-08	45033577	231362513	17888108	7	1544											
NLRP3	114548	broad.mit.edu	37	chr1	247597507	247597507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgagtgacaacgccctCggtgacttcggaatcagact	11	12	1	4	rs147154764		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:247597507C>T	ENST00000336119.3	+	5	3176	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	NLRP3_ENST00000366496.2_Silent_p.L810L|NLRP3_ENST00000366497.2_Silent_p.L810L|NLRP3_ENST00000348069.2_Silent_p.L753L|NLRP3_ENST00000391828.3_Silent_p.L810L|NLRP3_ENST00000391827.2_Silent_p.L753L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	810					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAACGCCCTCGGTGACTTCG	0.567																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2428-2430)ctC>ctT		NLR family, pyrin domain containing 3		C	,,,,	0,4406		0,0,2203	140	125	130		2430,2430,2259,2430,2259	1.5	0.8	1	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	810/1037,810/980,753/980,810/1037,753/923	247597507	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597507C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2430C>T	1.37:g.247597507C>T						NLRP3_ENST00000391828.3_Silent_p.L810L|NLRP3_ENST00000366496.2_Silent_p.L810L|NLRP3_ENST00000391827.2_Silent_p.L753L|NLRP3_ENST00000348069.2_Silent_p.L753L|NLRP3_ENST00000336119.3_Silent_p.L810L	p.L810L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3210	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	867					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2430C>T	CCDS1632.1																																																																																				0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		6	433	0	0	0	1	0	6	433					T	247597507	C	T	247597507	2	4	13	1	0	0	0	0	0	0	0	1	10520	871	31	1		1	NLRP3	1	247597507	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	16234994	247597507	1653114	8	1545											
IL18RAP	8807	broad.mit.edu	37	chr2	103063588	103063588	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggtggccgtgctggcggcGagtgccctcctctacaggca	15	14	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:103063588G>C	ENST00000264260.2	+	10	1720	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A	IL18RAP_ENST00000409369.1_Silent_p.A235A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	377					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCTGGCGGCGAGTGCCCTCC	0.582																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1129-1131)gcG>gcC		interleukin 18 receptor accessory protein							143	145	145					2																	103063588		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063588G>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1131G>C	2.37:g.103063588G>C						IL18RAP_ENST00000409369.1_Silent_p.A235A	p.A377A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1720	+			377					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1131G>C	CCDS2061.1																																																																																				0.582	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		6	892	0	0	0	1	0	6	892					C	103063588	G	C	103063588	2	2	13	1	0	0	0	0	0	0	0	1	7678	1045	37	5		5	IL18RAP	2	103063588	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		103063588	140135785	9	1546											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1009	0	0	0	1	0	7	1009					T	109371685	A	T	109371685	3	4	13	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	6308097	109371685	133827688	10	1547											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		10	247						10	247	---	---	---	---	-	128046946	TCT	-	128046944	7	5	13	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-2J-AABR-01A-11D-A40W-08	18675259	128046944	115152429	11	1548											
NEB	4703	broad.mit.edu	37	chr2	152552104	152552104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttacatcactcaagttAtaggcattgactttgtgctg	8	8	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:152552104A>G	ENST00000172853.10	-	18	1809	c.1662T>C	c.(1660-1662)taT>taC	p.Y554Y	NEB_ENST00000427231.2_Silent_p.Y554Y|NEB_ENST00000603639.1_Silent_p.Y554Y|NEB_ENST00000604864.1_Silent_p.Y554Y|NEB_ENST00000409198.1_Silent_p.Y554Y|NEB_ENST00000397345.3_Silent_p.Y554Y			P20929	NEBU_HUMAN	nebulin	554					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)			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)		CACTCAAGTTATAGGCATTGA	0.373																																						ENST00000427231.2																			0				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						c.(1660-1662)taT>taC		nebulin							109	106	107					2																	152552104		1938	4126	6064	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152552104A>G	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.1662T>C	2.37:g.152552104A>G						NEB_ENST00000603639.1_Silent_p.Y554Y|NEB_ENST00000604864.1_Silent_p.Y554Y|NEB_ENST00000172853.10_Silent_p.Y554Y|NEB_ENST00000409198.1_Silent_p.Y554Y|NEB_ENST00000397345.3_Silent_p.Y554Y	p.Y554Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	18	1864	-			554					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.1662T>C																																																																																					0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	105	0	0	0	1	0	5	105					G	152552104	A	G	152552104	2	3	13	1	0	0	0	0	0	0	0	1	10344	456	16	4		4	NEB	2	152552104	Silent	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	24505160	152552104	90647269	12	1549											
TTN	7273	broad.mit.edu	37	chr2	179416527	179416530	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													ctttttgccagaggatgctaTttctttctttcttttcaaca							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:179416527_179416530delTTTC	ENST00000591111.1	-	285	86398_86401	c.86174_86177delGAAA	c.(86173-86178)agaaatfs	p.RN28725fs	TTN_ENST00000589042.1_Frame_Shift_Del_p.RN30366fs|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.RN21493fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.RN21426fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.RN21301fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.RN27798fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28725	Fibronectin type-III 109. {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)			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)			GAGGATGCTATTTCTTTCTTTCTT	0.392																																						ENST00000589042.1																			0				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						c.(91096-91101)atfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416527_179416530delTTTC	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.86174_86177delGAAA	2.37:g.179416535_179416538delTTTC	ENSP00000465570:p.Arg28725fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.RN27798fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.RN21426fs|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.RN21301fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.RN21493fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.RN28725fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.RN30366fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	91321_91324	-			28725					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.91097_91100delGAAA																																																																																					0.392	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	907						7	907	---	---	---	---	-	179416530	TTTC	-	179416527	7	5	13	1	0	1	0	1	0	0	0	0	16789	1493	52	0	16991	0	TTN	2	179416527	Frame_Shift_Del	DEL	TTTC	TCGA-2J-AABR-01A-11D-A40W-08	26864423	179416527	63782846	13	1550											
IRS1	3667	broad.mit.edu	37	chr2	227660111	227660111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccaaagggcactgtgTtgcccacccgggtggcactg	13	15	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:227660111T>C	ENST00000305123.5	-	1	4364	c.3344A>G	c.(3343-3345)aAc>aGc	p.N1115S	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1115					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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCACTGTGTTGCCCACCCG	0.617																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3343-3345)aAc>aGc		insulin receptor substrate 1							46	45	45					2																	227660111		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660111T>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3344A>G	2.37:g.227660111T>C	ENSP00000304895:p.Asn1115Ser						p.N1115S	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4364	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1115						Missense_Mutation	SNP	ENST00000305123.5	37	c.3344A>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281845	0.10458	.	.	ENSG00000169047	ENST00000305123	T	0.56275	0.47	5.81	5.81	0.92471	.	0.174974	0.34268	N	0.004120	T	0.25382	0.0617	N	0.11064	0.09	0.27707	N	0.945585	B	0.31581	0.329	B	0.28849	0.095	T	0.32613	-0.9900	10	0.05436	T	0.98	-25.738	6.918	0.24371	0.0:0.1629:0.0:0.8371	.	1115	P35568	IRS1_HUMAN	S	1115	ENSP00000304895:N1115S	ENSP00000304895:N1115S	N	-	2	0	IRS1	227368355	0.000000	0.05858	0.965000	0.40720	0.245000	0.25701	-0.476000	0.06591	2.206000	0.71126	0.533000	0.62120	AAC		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		12	349	0	0	0	1	0	12	349					C	227660111	T	C	227660111	3	2	13	1	0	0	0	0	1	0	0	0	7870	1725	60	4	388	4	IRS1	2	227660111	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	48243584	227660111	15539262	14	1551											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	11	6	3	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					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.A86T(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)		TCAGATTTTGCCATCATCAGG	0.383																																						ENST00000254657.3																			1	Substitution - Missense(1)	p.A86T(1)	urinary_tract(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						c.(256-258)Gca>Aca		period circadian clock 2							227	239	235					2																	239185809		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.chr2:239185809C>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.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr					PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T	p.A86T	NM_022817.2	NP_073728.1	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)	3	535	-		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)	86					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.256G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		7	1381	0	0	0	1	0	7	1381					T	239185809	C	T	239185809	3	4	13	1	0	0	0	0	1	0	0	0	11772	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	11525698	239185809	4013564	15	1552											
ATP13A3	79572	broad.mit.edu	37	chr3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-													cgccactcaggcatccaataGaggaggaggaggagaaaccc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		8	608						8	608	---	---	---	---	-	194181473	GAG	-	194181471	7	5	13	1	0	1	0	1	0	0	0	0	1126	929	33	0	3659	0	ATP13A3	3	194181471	In_Frame_Del	DEL	GAG	TCGA-2J-AABR-01A-11D-A40W-08		194181471	3840959	16	1553											
CRIPAK	285464	broad.mit.edu	37	chr4	1389313	1389313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacacacatgccgatgTggagtgcccgcctgctcaca	10	15	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:1389313T>C	ENST00000324803.4	+	1	3974	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	338					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGCCGATGTGGAGTGCCCG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1012-1014)tgT>tgC		cysteine-rich PAK1 inhibitor							169	175	173					4																	1389313		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389313T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1014T>C	4.37:g.1389313T>C							p.C338C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3974	+			338					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1014T>C	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		11	1432	0	0	0	1	0	11	1432					C	1389313	T	C	1389313	2	2	13	1	0	0	0	0	0	0	0	1	3886	1702	59	4		4	CRIPAK	4	1389313	Silent	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08		1389313	189764963	17	1554											
ARAP2	116984	broad.mit.edu	37	chr4	36189102	36189102	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctactctaaaaacaaaagttCtttgtgttgtaacaacttca	4	8	3	0	rs187371781		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:36189102C>A	ENST00000303965.4	-	8	2138	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	550	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AACAAAAGTTCTTTGTGTTGT	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		15678	0.001		0.0	False		,,,				2504	0.0					ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(1648-1650)aGa>aTa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	ILE/ARG	0,4400		0,0,2200	59	59	59		1649	5.9	1	4		59	1,8587	1.2+/-3.3	0,1,4293	no	missense	ARAP2	NM_015230.3	97	0,1,6493	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	550/1705	36189102	1,12987	2200	4294	6494	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36189102C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1649G>T	4.37:g.36189102C>A	ENSP00000302895:p.Arg550Ile						p.R550I	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			8	2138	-			550			PH 1.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1649G>T	CCDS3441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.9	4.962860	0.92791	0.0	1.16E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.998	T	0.62492	-0.6843	10	0.87932	D	0	.	19.8836	0.96906	0.0:1.0:0.0:0.0	.	480;550	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	I	550	ENSP00000302895:R550I	ENSP00000302895:R550I	R	-	2	0	ARAP2	35865497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.860000	0.69546	2.791000	0.96007	0.650000	0.86243	AGA		0.299	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	298	1	0	4.68919e-08	1	4.99724e-08	11	298					A	36189102	C	A	36189102	3	1	13	1	0	0	0	0	1	0	0	0	839	913	32	3	3569	3	ARAP2	4	36189102	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	34799789	36189102	154965174	18	1555											
TSPAN5	10098	broad.mit.edu	37	chr4	99407920	99407920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgttttcccgtagcGctccaatgcaccctgcaaat	9	12	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:99407920G>A	ENST00000305798.3	-	3	650	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TSPAN5_ENST00000505184.1_Missense_Mutation_p.A12V|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	83					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TTCCCGTAGCGCTCCAATGCA	0.478																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(247-249)gCg>gTg		tetraspanin 5							160	147	152					4																	99407920		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99407920G>A		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.248C>T	4.37:g.99407920G>A	ENSP00000307701:p.Ala83Val					TSPAN5_ENST00000505184.1_Missense_Mutation_p.A12V|TSPAN5_ENST00000509168.1_5'UTR	p.A83V	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	3	650	-			83					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.248C>T	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584361	0.65992	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.51	5.51	0.81932	Tetraspanin, conserved site (1);	0.096844	0.64402	D	0.000001	D	0.93203	0.7835	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.93958	0.7238	10	0.87932	D	0	.	19.614	0.95622	0.0:0.0:1.0:0.0	.	83	P62079	TSN5_HUMAN	V	83;12;12;12	ENSP00000307701:A83V;ENSP00000423916:A12V;ENSP00000423504:A12V;ENSP00000426248:A12V	ENSP00000307701:A83V	A	-	2	0	TSPAN5	99626943	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	9.454000	0.97621	2.873000	0.98535	0.561000	0.74099	GCG		0.478	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		17	577	0	0	0	1	0	17	577					A	99407920	G	A	99407920	3	1	13	1	0	0	0	0	1	0	0	0	16703	1087	38	1	582	1	TSPAN5	4	99407920	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	63218818	99407920	91746356	19	1556											
TACR3	6870	broad.mit.edu	37	chr4	104577461	104577469	+	In_Frame_Del	DEL	ATGGGAAAC	ATGGGAAAC	-													tgtaatacccatgatgagcaAtgggaaacagtacaccagta					rs200604292|rs377430416		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:104577461_104577469delATGGGAAAC	ENST00000304883.2	-	3	910_918	c.770_778delGTTTCCCAT	c.(769-780)tgtttcccattg>ttg	p.CFP257del		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	257					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATGATGAGCAATGGGAAACAGTACACCAG	0.392																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(769-780)ttg>t		tachykinin receptor 3																																				SO:0001651	inframe_deletion	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577461_104577469delATGGGAAAC	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.770_778delGTTTCCCAT	4.37:g.104577461_104577469delATGGGAAAC	ENSP00000303325:p.Cys257_Pro259del						p.CFPL257del	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	910_918	-		Hepatocellular(203;0.217)	257					Q0P510	In_Frame_Del	DEL	ENST00000304883.2	37	c.770_778delGTTTCCCAT	CCDS3664.1																																																																																				0.392	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		11	544						11	544	---	---	---	---	-	104577469	ATGGGAAAC	-	104577461	7	5	13	1	0	1	0	1	0	0	0	0	15559	98	4	0	631	0	TACR3	4	104577461	In_Frame_Del	DEL	ATGGGAAAC	TCGA-2J-AABR-01A-11D-A40W-08	5169541	104577461	86576815	20	1557											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	346						7	346	---	---	---	---	-	106863684	CCA	-	106863682	7	5	13	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-2J-AABR-01A-11D-A40W-08	2286221	106863682	84290594	21	1558											
NUP155	9631	broad.mit.edu	37	chr5	37370977	37370977	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggtacatgcggtcctcttGcaactgacggtcgatgagcc	13	12	1	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:37370977G>C	ENST00000231498.3	-	1	306	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Missense_Mutation_p.Q35E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	35					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCCTCTTGCAACTGACGG	0.582																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(103-105)Caa>Gaa		nucleoporin 155kDa							107	103	105					5																	37370977		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37370977G>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.103C>G	5.37:g.37370977G>C	ENSP00000231498:p.Gln35Glu					NUP155_ENST00000513532.1_Missense_Mutation_p.Q35E	p.Q35E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	306	-	all_lung(31;0.000137)		35					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.103C>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366755	0.41902	.	.	ENSG00000113569	ENST00000231498;ENST00000513532	T;T	0.77877	-1.12;-1.13	4.28	3.38	0.38709	.	0.056570	0.64402	N	0.000001	T	0.69975	0.3171	L	0.57536	1.79	0.50039	D	0.999841	B;B	0.30146	0.0;0.27	B;B	0.31442	0.0;0.13	T	0.63959	-0.6519	10	0.02654	T	1	.	14.0155	0.64521	0.0:0.1524:0.8476:0.0	.	35;35	E9PF10;O75694	.;NU155_HUMAN	E	35	ENSP00000231498:Q35E;ENSP00000422019:Q35E	ENSP00000231498:Q35E	Q	-	1	0	NUP155	37406734	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.782000	0.68973	0.985000	0.38656	0.650000	0.86243	CAA		0.582	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		17	504	0	0	0	1	0	17	504					C	37370977	G	C	37370977	3	2	13	1	0	0	0	0	1	0	0	0	10798	1328	46	5	4212	5	NUP155	5	37370977	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		37370977	143544283	22	1559											
CHSY3	337876	broad.mit.edu	37	chr5	129519959	129519959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaattatgaacacaatcGgaagggttacatccaagacc	8	8	0	3			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:129519959G>A	ENST00000305031.4	+	3	1482	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	375					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAACACAATCGGAAGGGTTAC	0.343																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1123-1125)cGg>cAg		chondroitin sulfate synthase 3							80	77	78					5																	129519959		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129519959G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1124G>A	5.37:g.129519959G>A	ENSP00000302629:p.Arg375Gln					CHSY3_ENST00000507545.1_3'UTR	p.R375Q	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1482	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	375					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1124G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168044	0.78339	.	.	ENSG00000198108	ENST00000305031	T	0.16196	2.36	4.46	3.59	0.41128	.	0.455483	0.18240	N	0.147272	T	0.19644	0.0472	L	0.43152	1.355	0.36257	D	0.854274	D	0.54047	0.964	P	0.46796	0.527	T	0.19582	-1.0301	9	.	.	.	0.1414	13.2683	0.60146	0.0779:0.0:0.9221:0.0	.	375	Q70JA7	CHSS3_HUMAN	Q	375	ENSP00000302629:R375Q	.	R	+	2	0	CHSY3	129547858	0.973000	0.33851	0.789000	0.31954	0.998000	0.95712	3.393000	0.52544	1.477000	0.48234	0.644000	0.83932	CGG		0.343	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		15	396	0	0	0	1	0	15	396					A	129519959	G	A	129519959	3	1	13	1	0	0	0	0	1	0	0	0	3422	1116	39	1	1134	1	CHSY3	5	129519959	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	92148982	129519959	51395301	23	1560											
FAT2	2196	broad.mit.edu	37	chr5	150911532	150911532	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacctgggcattggcgcCtggcagggagaccaagggtg	16	11	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:150911532C>T	ENST00000261800.5	-	13	9440		c.e13-1			NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2						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)			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)			GCATTGGCGCCTGGCAGGGAG	0.652																																						ENST00000261800.5																			0				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						c.e13-1		FAT atypical cadherin 2							41	46	44					5																	150911532		2165	4252	6417	SO:0001630	splice_region_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911532C>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.9428-1G>A	5.37:g.150911532C>T								NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9440	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)						O75091|Q9NSR7	Splice_Site	SNP	ENST00000261800.5	37		CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.87|12.87	2.067656|2.067656	0.36470|0.36470	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73760	.|0.3628	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72337	.|-0.4324	.|4	.|.	.|.	.|.	.|.	17.4335|17.4335	0.87545|0.87545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|K	-1|1	.|.	.|.	.|R	-|-	.|2	.|0	FAT2|FAT2	150891725|150891725	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.240000|0.240000	0.25518|0.25518	5.591000|5.591000	0.67536|0.67536	2.557000|2.557000	0.86248|0.86248	0.557000|0.557000	0.71058|0.71058	.|AGG		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	Intron	20	359	0	0	0	1	0	20	359					T	150911532	C	T	150911532	5	4	13	1	0	0	0	0	0	0	1	0	5715	695	24	2	3666	2	FAT2	5	150911532	Splice_Site	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	21391573	150911532	30003728	24	1561											
SOX4	6659	broad.mit.edu	37	chr6	21595920	21595922	+	In_Frame_Del	DEL	CTC	CTC	-													tcctcctcggcctcgtcccaCtcctcctcttcctcctcctc					rs576492044|rs568195185	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:21595920_21595922delCTC	ENST00000244745.1	+	1	1949_1951	c.1155_1157delCTC	c.(1153-1158)cactcc>cac	p.S392del	SOX4_ENST00000543472.1_In_Frame_Del_p.S392del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	392	Poly-Ser.				ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cctcgtcccactcctcctcttcc	0.709														6	0.00119808	0.0	0.0014	5008	,	,		11697	0.0		0.004	False		,,,				2504	0.001					ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(1153-1158)cac>ca		SRY (sex determining region Y)-box 4				29,4187		10,9,2089						-0.6	0.4			12	66,8066		14,38,4014	no	coding	SOX4	NM_003107.2		24,47,6103	A1A1,A1R,RR		0.8116,0.6879,0.7694				95,12253				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595920_21595922delCTC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1155_1157delCTC	6.37:g.21595926_21595928delCTC	ENSP00000244745:p.Ser392del					SOX4_ENST00000543472.1_In_Frame_Del_p.HS385del	p.HS385del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1949_1951	+	Ovarian(93;0.163)		385						In_Frame_Del	DEL	ENST00000244745.1	37	c.1155_1157delCTC	CCDS4547.1																																																																																				0.709	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		30	25						30	25	---	---	---	---	-	21595922	CTC	-	21595920	7	5	13	1	0	1	0	1	0	0	0	0	15003	564	20	0	1157	0	SOX4	6	21595920	In_Frame_Del	DEL	CTC	TCGA-2J-AABR-01A-11D-A40W-08		21595920	149519147	25	1562											
BTN2A2	10385	broad.mit.edu	37	chr6	26384104	26384106	+	In_Frame_Del	DEL	CTG	CTG	-													cagcctccctcctcctcctcCtgctcctcctccttctcagc					rs115247877	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:26384104_26384106delCTG	ENST00000356709.4	+	2	166_168	c.55_57delCTG	c.(55-57)ctgdel	p.L24del	BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						cctcctcctcctgctcctcctcc	0.586																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(55-57)del		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384104_26384106delCTG	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.55_57delCTG	6.37:g.26384104_26384106delCTG	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del	p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	166_168	+			24					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.55_57delCTG	CCDS4606.1																																																																																				0.586	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			21	411						21	411	---	---	---	---	-	26384106	CTG	-	26384104	7	5	13	1	0	1	0	1	0	0	0	0	1565	680	24	0	57	0	BTN2A2	6	26384104	In_Frame_Del	DEL	CTG	TCGA-2J-AABR-01A-11D-A40W-08	4788184	26384104	144730963	26	1563											
BAT2	7916	broad.mit.edu	37	chr6	31597338	31597340	+	In_Frame_Del	DEL	AGC	AGC	-													ttcctaggagcagctcctgaAgcagcagcagcagcaccagt					rs199833002		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:31597338_31597340delAGC	ENST00000376033.2	+	14	2204_2206	c.1970_1972delAGC	c.(1969-1974)aagcag>aag	p.Q661del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.Q661del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	661	4 X 57 AA type A repeats.|Poly-Gln.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTCCTGAagcagcagcagca	0.567																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1969-1974)aag>a		proline-rich coiled-coil 2A																																				SO:0001651	inframe_deletion	7916					cytoplasm|nucleus	protein binding	g.chr6:31597338_31597340delAGC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1970_1972delAGC	6.37:g.31597347_31597349delAGC	ENSP00000365201:p.Gln661del					PRRC2A_ENST00000376007.4_In_Frame_Del_p.KQ657del	p.KQ657del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			14	2204_2206	+			657			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	c.1970_1972delAGC	CCDS4708.1																																																																																				0.567	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	1086						7	1086	---	---	---	---	-	31597340	AGC	-	31597338	7	5	13	1	0	1	0	1	0	0	0	0	1320	72	3	0	2020	0	BAT2	6	31597338	In_Frame_Del	DEL	AGC	TCGA-2J-AABR-01A-11D-A40W-08	5213234	31597338	139517729	27	1564											
STK19	8859	broad.mit.edu	37	chr6	31939840	31939841	+	Frame_Shift_Ins	INS	-	-	G													gtggcgggcaaacccctcccINSggggcgggggaggtgtgagc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:31939840_31939841insG	ENST00000375333.2	+	1	120_121	c.67_68insG	c.(67-69)cggfs	p.R23fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R23fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	23					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						AAACCCCTCCCGGGGCGGGGGA	0.639																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(67-69)gggfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939840_31939841insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.71dupG	6.37:g.31939844_31939844dupG	ENSP00000364482:p.Arg23fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.G23fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	p.G23fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	233_234	+			23					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.67_68insG	CCDS4733.1																																																																																				0.639	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	722						7	722	---	---	---	---	G	31939841	-	G	31939840	7	5	13	1	0	1	1	0	0	0	0	0	15344	643	23	0	69	0	STK19	6	31939840	Frame_Shift_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08	342502	31939840	139175227	28	1565											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-													ggcagccagggcaacagcaaCagcagcagcagccgcctcag							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aacagc>aac	p.S308del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.S308del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	308							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(910-915)aac>aa		UHRF1 binding protein 1																																				SO:0001651	inframe_deletion	54887							g.chr6:34804004_34804006delCAG	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.912_914delCAG	6.37:g.34804013_34804015delCAG	ENSP00000192788:p.Ser308del					UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1083_1085	+			304					Q9NXE0	In_Frame_Del	DEL	ENST00000192788.5	37	c.912_914delCAG	CCDS43455.1																																																																																				0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	867						7	867	---	---	---	---	-	34804006	CAG	-	34804004	7	5	13	1	0	1	0	1	0	0	0	0	17022	477	17	0	942	0	UHRF1BP1	6	34804004	In_Frame_Del	DEL	CAG	TCGA-2J-AABR-01A-11D-A40W-08	2864164	34804004	136311063	29	1566											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	81	0	0	0	1	0	5	81					G	45390466	A	G	45390466	2	3	13	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	10586462	45390466	125724601	30	1567											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0	rs369142492		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160	160	160		470,470,470	3.3	1	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		6	838	0	0	0	1	0	6	838					C	105573335	T	C	105573335	3	2	13	1	0	0	0	0	1	0	0	0	1579	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	60182869	105573335	65541732	31	1568											
TAF6	6878	broad.mit.edu	37	chr7	99707631	99707631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgctcagcacagggccGtccagcacactgcggatccg	12	14	1	0	rs148894017		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:99707631G>A	ENST00000344095.4	-	12	1749	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	TAF6_ENST00000453269.2_Silent_p.D408D|TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000437822.2_Silent_p.D445D|TAF6_ENST00000472509.1_Silent_p.D465D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Silent_p.D332D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	408					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACAGGGCCGTCCAGCACAC	0.587																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1222-1224)gaC>gaT		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa		G	,,	0,4406		0,0,2203	110	97	101		1335,1224,1224	-6.5	0.9	7	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TAF6	NM_001190415.1,NM_005641.3,NM_139315.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	445/715,408/678,408/678	99707631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99707631G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1224C>T	7.37:g.99707631G>A						TAF6_ENST00000453269.2_Silent_p.D408D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Silent_p.D465D|TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000437822.2_Silent_p.D445D|TAF6_ENST00000418432.2_Silent_p.D332D	p.D408D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			12	1749	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		408					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.1224C>T	CCDS5686.1																																																																																				0.587	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		5	345	0	0	0	1	0	5	345					A	99707631	G	A	99707631	2	1	13	1	0	0	0	0	0	0	0	1	15582	1136	40	1		1	TAF6	7	99707631	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		99707631	59431032	32	1569											
MUC17	140453	broad.mit.edu	37	chr7	100676844	100676844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaactcctgttgacaccaGcacacctgtgaccacttcaa	5	15	1	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:100676844G>A	ENST00000306151.4	+	3	2211	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	716	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S716N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTGACACCAGCACACCTGTG	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.S716N(1)	endometrium(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2146-2148)aGc>aAc		mucin 17, cell surface associated							321	324	323					7																	100676844		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676844G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2147G>A	7.37:g.100676844G>A	ENSP00000302716:p.Ser716Asn						p.S716N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2211	+	Lung NSC(181;0.136)|all_lung(186;0.182)		716			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2147G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.217	-1.031674	0.02029	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	9	0.27082	T	0.32	.	0.8317	0.01132	0.1693:0.1998:0.3441:0.2867	.	716	Q685J3	MUC17_HUMAN	N	716	ENSP00000302716:S716N	ENSP00000302716:S716N	S	+	2	0	MUC17	100463564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.067000	0.14510	-1.530000	0.01751	-2.257000	0.00281	AGC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1750	0	0	0	1	0	9	1750					A	100676844	G	A	100676844	3	1	13	1	0	0	0	0	1	0	0	0	10015	971	34	2	2157	2	MUC17	7	100676844	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	969213	100676844	58461819	33	1570											
KCNH2	3757	broad.mit.edu	37	chr7	150656780	150656780	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgatgacagccccatcctCgttcttcacgggcaccacat	7	16	2	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:150656780C>A	ENST00000262186.5	-	3	753	c.352G>T	c.(352-354)Gag>Tag	p.E118*	KCNH2_ENST00000430723.3_Nonsense_Mutation_p.E118*|KCNH2_ENST00000392968.2_Nonsense_Mutation_p.E22*	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	118	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCCCCATCCTCGTTCTTCACG	0.597																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(64-66)Gag>Tag		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						169	124	139					7																	150656780		2203	4300	6503	SO:0001587	stop_gained	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656780C>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.352G>T	7.37:g.150656780C>A	ENSP00000262186:p.Glu118*					KCNH2_ENST00000262186.5_Nonsense_Mutation_p.E118*|KCNH2_ENST00000430723.3_Nonsense_Mutation_p.E118*	p.E22*			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1184	-	all_neural(206;0.219)		118					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Nonsense_Mutation	SNP	ENST00000262186.5	37	c.64G>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	c	42	9.256142	0.99117	.	.	ENSG00000055118	ENST00000392968;ENST00000262186;ENST00000430723	.	.	.	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2258	0.73352	0.0:1.0:0.0:0.0	.	.	.	.	X	22;118;118	.	ENSP00000262186:E118X	E	-	1	0	KCNH2	150287713	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.258000	0.78371	2.183000	0.69458	0.436000	0.28706	GAG		0.597	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		4	258	1	0	0.150653	1	0.150653	4	258					A	150656780	C	A	150656780	4	1	13	1	0	0	0	0	0	1	0	0	8062	893	31	3	3560	3	KCNH2	7	150656780	Nonsense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	49979936	150656780	8481883	34	1571											
SPATC1	375686	broad.mit.edu	37	chr8	145094826	145094826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcttcctgcccccGtccccagcagtggcaaacga	10	17	1	0	rs377548022		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(226-228)ccG>ccA		spermatogenesis and centriole associated 1		G	,	0,4406		0,0,2203	69	75	73		228,228	-4.9	0	8		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	76/442,76/592	145094826	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094826G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.228G>A	8.37:g.145094826G>A						SPATC1_ENST00000447830.2_Silent_p.P76P	p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	330	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		76			Necessary for targeting centrosomes (By similarity).		B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.228G>A	CCDS6413.2																																																																																				0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		10	431	0	0	0	1	0	10	431					A	145094826	G	A	145094826	2	1	13	1	0	0	0	0	0	0	0	1	15069	1132	40	1		1	SPATC1	8	145094826	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		145094826	1269196	35	1572											
RNF20	56254	broad.mit.edu	37	chr9	104324559	104324559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccgtgctgtaacatgcGtaaaaaggatgctgttctta	10	8	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:104324559G>A	ENST00000389120.3	+	20	2873	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	928					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGTAACATGCGTAAAAAGGAT	0.418																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2782-2784)cGt>cAt		ring finger protein 20, E3 ubiquitin protein ligase							173	155	161					9																	104324559		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104324559G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2783G>A	9.37:g.104324559G>A	ENSP00000373772:p.Arg928His						p.R928H	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	20	2873	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	928					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2783G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027440	0.75390	.	.	ENSG00000155827	ENST00000389120	D	0.86297	-2.1	5.87	4.98	0.66077	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	L	0.56340	1.77	0.80722	D	1	D	0.62365	0.991	P	0.58620	0.842	D	0.91247	0.5026	10	0.72032	D	0.01	-9.7351	15.166	0.72825	0.0684:0.0:0.9316:0.0	.	928	Q5VTR2	BRE1A_HUMAN	H	928	ENSP00000373772:R928H	ENSP00000373772:R928H	R	+	2	0	RNF20	103364380	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.601000	0.82783	1.628000	0.50416	-0.150000	0.13652	CGT		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	471	0	0	0	1	0	5	471					A	104324559	G	A	104324559	3	1	13	1	0	0	0	0	1	0	0	0	13523	1145	40	1	2857	1	RNF20	9	104324559	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		104324559	36888872	36	1573											
ANAPC2	29882	broad.mit.edu	37	chr9	140080689	140080689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaccttgtggaactcaCgcaggaaggagcgctcgtac	11	13	2	0	rs371252788		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:140080689C>T	ENST00000323927.2	-	3	864	c.860G>A	c.(859-861)cGt>cAt	p.R287H	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTGGAACTCACGCAGGAAGGA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18278	0.0		0.0	False		,,,				2504	0.0					ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(859-861)cGt>cAt		anaphase promoting complex subunit 2		C	HIS/ARG	0,4406		0,0,2203	48	48	48		860	2.7	1	9		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANAPC2	NM_013366.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	287/823	140080689	1,13005	2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140080689C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.860G>A	9.37:g.140080689C>T	ENSP00000314004:p.Arg287His						p.R287H	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	3	864	-	all_cancers(76;0.0926)		287					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.860G>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512989	0.27123	0.0	1.16E-4	ENSG00000176248	ENST00000323927	T	0.03181	4.02	3.7	2.7	0.31948	.	0.867499	0.10426	N	0.676110	T	0.02807	0.0084	N	0.12182	0.205	0.09310	N	1	B;B	0.22851	0.046;0.076	B;B	0.17433	0.008;0.018	T	0.38564	-0.9655	10	0.48119	T	0.1	-16.0898	10.9309	0.47217	0.0:0.8075:0.1925:0.0	.	287;287	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	H	287	ENSP00000314004:R287H	ENSP00000314004:R287H	R	-	2	0	ANAPC2	139200510	0.002000	0.14202	0.973000	0.42090	0.917000	0.54804	0.301000	0.19174	2.059000	0.61396	0.555000	0.69702	CGT		0.642	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		4	181	0	0	0	1	0	4	181					T	140080689	C	T	140080689	3	4	13	1	0	0	0	0	1	0	0	0	603	536	19	1	1652	1	ANAPC2	9	140080689	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	35756130	140080689	1132742	37	1574											
PDSS1	23590	broad.mit.edu	37	chr10	27024505	27024505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcctgtttgcctgtcaGcaggtaggttttacaaactc	9	11	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:27024505G>A	ENST00000376215.5	+	10	1076	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	341					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTGCCTGTCAGCAGGTAGGTT	0.498																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(1021-1023)caG>caA		prenyl (decaprenyl) diphosphate synthase, subunit 1							104	92	96					10																	27024505		2203	4300	6503	SO:0001819	synonymous_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27024505G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1023G>A	10.37:g.27024505G>A						PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR	p.Q341Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			10	1076	+			341					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Silent	SNP	ENST00000376215.5	37	c.1023G>A	CCDS31168.1																																																																																				0.498	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			6	153	0	0	0	1	0	6	153					A	27024505	G	A	27024505	2	1	13	1	0	0	0	0	0	0	0	1	11735	962	34	2		2	PDSS1	10	27024505	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		27024505	108510242	38	1575											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3	rs569602183	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		9	375	1	0	2.17888e-05	1	2.25614e-05	9	375					T	51754173	G	T	51754173	3	4	13	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	24729668	51754173	83780574	39	1576											
CNNM2	54805	broad.mit.edu	37	chr10	104678687	104678687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcggcccccagcgatgCggcatccgcacctcagacat	11	17	1	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:104678687C>T	ENST00000369878.4	+	1	638	c.450C>T	c.(448-450)tgC>tgT	p.C150C	CNNM2_ENST00000433628.2_Silent_p.C150C|CNNM2_ENST00000369875.3_Silent_p.C150C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	150					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCAGCGATGCGGCATCCGCA	0.687																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(448-450)tgC>tgT		cyclin M2							72	81	78					10																	104678687		2197	4299	6496	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678687C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.450C>T	10.37:g.104678687C>T						CNNM2_ENST00000369875.3_Silent_p.C150C|CNNM2_ENST00000433628.2_Silent_p.C150C	p.C150C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	574	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	150					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.450C>T	CCDS44474.1																																																																																				0.687	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		8	652	0	0	0	1	0	8	652					T	104678687	C	T	104678687	2	4	13	1	0	0	0	0	0	0	0	1	3622	776	27	1		1	CNNM2	10	104678687	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	52924514	104678687	30856060	40	1577											
BCCIP	56647	broad.mit.edu	37	chr10	127520157	127520157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccacagatcgctctgCccatgtaccagcagcttcag	7	17	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:127520157C>T	ENST00000278100.6	+	5	592	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCCIP_ENST00000429863.2_Missense_Mutation_p.P164S|BCCIP_ENST00000299130.3_Missense_Mutation_p.P194S|BCCIP_ENST00000368759.5_Missense_Mutation_p.P194S	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	194	Interaction with CDKN1A.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATCGCTCTGCCCATGTACCA	0.383																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(580-582)Ccc>Tcc		BRCA2 and CDKN1A interacting protein							63	63	63					10																	127520157		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127520157C>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.580C>T	10.37:g.127520157C>T	ENSP00000278100:p.Pro194Ser					BCCIP_ENST00000429863.2_Missense_Mutation_p.P164S|BCCIP_ENST00000368759.5_Missense_Mutation_p.P194S|BCCIP_ENST00000278100.6_Missense_Mutation_p.P194S	p.P194S	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			5	592	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	194			Interaction with CDKN1A.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.580C>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808990	0.90707	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;1.0	D	0.85215	0.1023	10	0.87932	D	0	-2.8285	18.8517	0.92235	0.0:1.0:0.0:0.0	.	164;194;194;194;194	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	S	194;194;194;164;194	ENSP00000278100:P194S;ENSP00000299130:P194S;ENSP00000357748:P194S;ENSP00000394758:P164S	ENSP00000278100:P194S	P	+	1	0	BCCIP	127510147	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.470000	0.80973	2.444000	0.82710	0.650000	0.86243	CCC		0.383	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			6	323	0	0	0	1	0	6	323					T	127520157	C	T	127520157	3	4	13	1	0	0	0	0	1	0	0	0	1357	739	26	2	598	2	BCCIP	10	127520157	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	22841470	127520157	8014590	41	1578											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629046	1629046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggaacagcagggtttGcagcagctggactggcagca	16	9	0	0	rs12808755		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr11:1629046G>A	ENST00000399685.1	-	1	647	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	190	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagggtttgcagcagctgg	0.622																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(568-570)tgC>tgT		keratin associated protein 5-3							161	162	162					11																	1629046		2202	4290	6492	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629046G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.570C>T	11.37:g.1629046G>A							p.C190C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	647	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	190			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.570C>T	CCDS41591.1																																																																																				0.622	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	673	0	0	0	1	0	7	673					A	1629046	G	A	1629046	2	1	13	1	0	0	0	0	0	0	0	1	8593	1311	46	2		2	KRTAP5-3	11	1629046	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		1629046	133377470	42	1579											
DAGLA	747	broad.mit.edu	37	chr11	61511152	61511152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagctgcaggcccggCgggcaccactggccaccatg	16	16	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr11:61511152C>G	ENST00000257215.5	+	20	2436	c.2320C>G	c.(2320-2322)Cgg>Ggg	p.R774G	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	774					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGGCCCGGCGGGCACCACT	0.721																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2320-2322)Cgg>Ggg		diacylglycerol lipase, alpha																																				SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511152C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2320C>G	11.37:g.61511152C>G	ENSP00000257215:p.Arg774Gly						p.R774G	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2436	+			774					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2320C>G	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173149	0.38413	.	.	ENSG00000134780	ENST00000257215	T	0.26957	1.7	3.1	3.1	0.35709	.	0.058161	0.64402	D	0.000004	T	0.13286	0.0322	N	0.19112	0.55	0.45307	D	0.998305	P	0.38827	0.649	B	0.28305	0.088	T	0.10268	-1.0637	10	0.59425	D	0.04	-27.7849	10.8252	0.46627	0.1894:0.8106:0.0:0.0	.	774	Q9Y4D2	DGLA_HUMAN	G	774	ENSP00000257215:R774G	ENSP00000257215:R774G	R	+	1	2	DAGLA	61267728	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	2.760000	0.47581	2.057000	0.61298	0.484000	0.47621	CGG		0.721	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		7	238	0	0	0	1	0	7	238					G	61511152	C	G	61511152	3	3	13	1	0	0	0	0	1	0	0	0	4237	759	27	5	2394	5	DAGLA	11	61511152	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	59882106	61511152	73495364	43	1580											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	214	1	0	0.00448238	1	0.00454464	8	214					A	25398284	C	A	25398284	3	1	13	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		25398284	108453611	44	1581											
METAP2	10988	broad.mit.edu	37	chr12	95877035	95877037	+	In_Frame_Del	DEL	AAG	AAG	-													caactggaaagaagaagaaaAagaagaagaagaagagagga							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:95877035_95877037delAAG	ENST00000323666.5	+	3	533_535	c.304_306delAAG	c.(304-306)aagdel	p.K106del	METAP2_ENST00000551840.1_In_Frame_Del_p.K105del|METAP2_ENST00000550777.1_In_Frame_Del_p.K70del|METAP2_ENST00000261220.9_Intron|METAP2_ENST00000546753.1_In_Frame_Del_p.K106del	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						gaagaagaaaaagaagaagaaga	0.389																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(304-306)del		methionyl aminopeptidase 2	L-Methionine(DB00134)																																			SO:0001651	inframe_deletion	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95877035_95877037delAAG	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.304_306delAAG	12.37:g.95877044_95877046delAAG	ENSP00000325312:p.Lys106del					METAP2_ENST00000551840.1_In_Frame_Del_p.K105del|METAP2_ENST00000550777.1_In_Frame_Del_p.K70del|METAP2_ENST00000546753.1_In_Frame_Del_p.K106del|METAP2_ENST00000261220.9_Intron	p.K106del	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			3	533_535	+			106			Poly-Lys.			In_Frame_Del	DEL	ENST00000323666.5	37	c.304_306delAAG	CCDS9052.1																																																																																				0.389	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		7	247						7	247	---	---	---	---	-	95877037	AAG	-	95877035	7	5	13	1	0	1	0	1	0	0	0	0	9528	15	1	0	314	0	METAP2	12	95877035	In_Frame_Del	DEL	AAG	TCGA-2J-AABR-01A-11D-A40W-08	70478751	95877035	37974860	45	1582											
AKAP11	11215	broad.mit.edu	37	chr13	42875532	42875532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggtgcatacgataGtaaatgaaactttagagtca	10	6	1	2	rs201177301	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr13:42875532G>T	ENST00000025301.2	+	8	2825	c.2650G>T	c.(2650-2652)Gta>Tta	p.V884L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	884					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCATACGATAGTAAATGAAAC	0.338																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(2650-2652)Gta>Tta		A kinase (PRKA) anchor protein 11							30	30	30					13																	42875532		2200	4296	6496	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875532G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2650G>T	13.37:g.42875532G>T	ENSP00000025301:p.Val884Leu						p.V884L	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2825	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	884					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2650G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.838969	0.51057	.	.	ENSG00000023516	ENST00000025301	T	0.22945	1.93	6.03	5.16	0.70880	.	0.158160	0.42294	N	0.000726	T	0.28001	0.0690	M	0.69823	2.125	0.46849	D	0.999229	B	0.27997	0.197	B	0.30716	0.119	T	0.05402	-1.0887	10	0.18276	T	0.48	.	10.464	0.44596	0.0689:0.1349:0.7962:0.0	.	884	Q9UKA4	AKA11_HUMAN	L	884	ENSP00000025301:V884L	ENSP00000025301:V884L	V	+	1	0	AKAP11	41773532	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	5.995000	0.70631	1.497000	0.48584	0.655000	0.94253	GTA		0.338	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		5	139	1	0	4.096e-09	1	4.39718e-09	5	139					T	42875532	G	T	42875532	3	4	13	1	0	0	0	0	1	0	0	0	447	1029	36	3	2672	3	AKAP11	13	42875532	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		42875532	72294346	46	1583											
EDNRB	1910	broad.mit.edu	37	chr13	78477390	78477390	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaaaacctatggcttcaggGacagccagaaccacagagac	9	12	2	2	rs112618428		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr13:78477390G>T	ENST00000334286.5	-	3	938	c.702C>A	c.(700-702)gtC>gtA	p.V234V	EDNRB_ENST00000446573.1_Silent_p.V234V|EDNRB_ENST00000377211.4_Silent_p.V324V	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	234					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGGCTTCAGGGACAGCCAGAA	0.433																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(970-972)gtC>gtA		endothelin receptor type B	Bosentan(DB00559)						157	165	162					13																	78477390		2203	4300	6503	SO:0001819	synonymous_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477390G>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.702C>A	13.37:g.78477390G>T						EDNRB_ENST00000334286.5_Silent_p.V234V|EDNRB_ENST00000446573.1_Silent_p.V234V	p.V324V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1124	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	234					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	c.972C>A	CCDS9461.1																																																																																				0.433	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			13	626	1	0	4.36969e-10	1	4.72574e-10	13	626					T	78477390	G	T	78477390	2	4	13	1	0	0	0	0	0	0	0	1	4936	1161	41	3		3	EDNRB	13	78477390	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	35601858	78477390	36692488	47	1584											
KLHDC2	23588	broad.mit.edu	37	chr14	50249311	50249311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccaaaatctcttgtaCggtaagtaactttgtacttg	6	8	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr14:50249311C>T	ENST00000298307.5	+	12	1957	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	NEMF_ENST00000556925.1_5'Flank|KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	366						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATCTCTTGTACGGTAAGTAAC	0.308																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e12+1		kelch domain containing 2							51	51	51					14																	50249311		2203	4300	6503	SO:0001630	splice_region_variant	23588					nucleus	protein binding	g.chr14:50249311C>T	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1097+1C>T	14.37:g.50249311C>T						KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron	p.R366_splice	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			12	1957	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		366					B3KPF9|Q6IAF0|Q86TY9	Splice_Site	SNP	ENST00000298307.5	37	c.1097_splice	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484982	0.63962	.	.	ENSG00000165516	ENST00000298307	T	0.05081	3.5	5.23	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.00440	-1.1738	10	0.87932	D	0	-15.6679	11.6456	0.51259	0.5345:0.4655:0.0:0.0	.	366	Q9Y2U9	KLDC2_HUMAN	W	366	ENSP00000298307:R366W	ENSP00000298307:R366W	R	+	1	2	KLHDC2	49319061	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.984000	0.29565	0.629000	0.30376	0.655000	0.94253	CGG		0.308	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		Missense_Mutation	8	142	0	0	0	1	0	8	142					T	50249311	C	T	50249311	5	4	13	1	0	0	0	0	0	0	1	0	8386	550	19	1	1142	1	KLHDC2	14	50249311	Splice_Site	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		50249311	57100229	48	1585											
SLC27A2	11001	broad.mit.edu	37	chr15	50519366	50519366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccacgacagagttggagAtacattccggttggtttttc	10	8	0	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:50519366A>G	ENST00000267842.5	+	7	1680	c.1448A>G	c.(1447-1449)gAt>gGt	p.D483G	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D430G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D248G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	483					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGAGTTGGAGATACATTCCGG	0.408																																						ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1447-1449)gAt>gGt		solute carrier family 27 (fatty acid transporter), member 2							92	93	93					15																	50519366		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50519366A>G	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1448A>G	15.37:g.50519366A>G	ENSP00000267842:p.Asp483Gly					SLC27A2_ENST00000380902.4_Missense_Mutation_p.D430G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D248G	p.D483G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	7	1680	+		all_lung(180;0.00177)	483					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1448A>G	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694762	0.88830	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.59502	0.26;0.26;0.26	5.78	5.78	0.91487	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90026	0.4131	10	0.87932	D	0	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	430;483	Q6PF09;O14975	.;S27A2_HUMAN	G	430;483;248	ENSP00000370289:D430G;ENSP00000267842:D483G;ENSP00000444549:D248G	ENSP00000267842:D483G	D	+	2	0	SLC27A2	48306658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.027000	0.93706	2.205000	0.71048	0.533000	0.62120	GAT		0.408	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		9	320	0	0	0	1	0	9	320					G	50519366	A	G	50519366	3	3	13	1	0	0	0	0	1	0	0	0	14576	333	12	4	1474	4	SLC27A2	15	50519366	Missense_Mutation	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08		50519366	52012026	49	1586											
ARID3B	10620	broad.mit.edu	37	chr15	74836290	74836292	+	In_Frame_Del	DEL	CAG	CAG	-													aggcaaaaatggagccacttCagcagcagcagcagcagcag							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:74836290_74836292delCAG	ENST00000346246.5	+	2	244_246	c.13_15delCAG	c.(13-15)cagdel	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGAGCCACTTcagcagcagcagc	0.562																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(13-15)del		AT rich interactive domain 3B (BRIGHT-like)				235,184,3735		16,2,201,6,170,1682						1.5	0.2			16	314,329,7401		14,1,285,11,306,3405	no	codingComplex	ARID3B	NM_006465.2		30,3,486,17,476,5087	A1A1,A1A2,A1R,A2A2,A2R,RR		7.9935,10.0867,8.7063				549,513,11136				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836290_74836292delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.13_15delCAG	15.37:g.74836299_74836301delCAG	ENSP00000343126:p.Gln15del						p.Q15del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			2	244_246	+			15			Gln-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.13_15delCAG	CCDS10264.1																																																																																				0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		7	103						7	103	---	---	---	---	-	74836292	CAG	-	74836290	7	5	13	1	0	1	0	1	0	0	0	0	917	827	29	0	15	0	ARID3B	15	74836290	In_Frame_Del	DEL	CAG	TCGA-2J-AABR-01A-11D-A40W-08	24316924	74836290	27695102	50	1587											
SRRM2	23524	broad.mit.edu	37	chr16	2814969	2814969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagagggagaagcgaatgTgattcttccccagaaccgaa	11	9	2	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:2814969T>G	ENST00000301740.8	+	11	4989	c.4440T>G	c.(4438-4440)tgT>tgG	p.C1480W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1480	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCGAATGTGATTCTTCCC	0.532																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4438-4440)tgT>tgG		serine/arginine repetitive matrix 2							101	103	102					16																	2814969		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814969T>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4440T>G	16.37:g.2814969T>G	ENSP00000301740:p.Cys1480Trp						p.C1480W	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4989	+			1480			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4440T>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	8.461	0.855301	0.17106	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26660	1.72	6.06	2.44	0.29823	.	0.089407	0.49916	D	0.000133	T	0.23688	0.0573	L	0.29908	0.895	0.46774	D	0.999198	D	0.63880	0.993	P	0.53006	0.715	T	0.02991	-1.1085	10	0.62326	D	0.03	-5.977	4.8712	0.13633	0.1664:0.167:0.0:0.6666	.	1480	Q9UQ35	SRRM2_HUMAN	W	1480;1480;732	ENSP00000301740:C1480W	ENSP00000301740:C1480W	C	+	3	2	SRRM2	2754970	0.997000	0.39634	1.000000	0.80357	0.925000	0.55904	0.114000	0.15520	0.530000	0.28619	0.533000	0.62120	TGT		0.532	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			17	642	0	0	0	1	0	17	642					G	2814969	T	G	2814969	3	3	13	1	0	0	0	0	1	0	0	0	15221	1702	59	4	4478	4	SRRM2	16	2814969	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08		2814969	87539784	51	1588											
FAM86A	196483	broad.mit.edu	37	chr16	5140142	5140142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatggaccgtcgcgacgtCccagtccagctgggccactg	13	15	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:5140142C>T	ENST00000427587.4	-	6	753	c.685G>A	c.(685-687)Gac>Aac	p.D229N	FAM86A_ENST00000458008.4_Missense_Mutation_p.D195N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D168N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	229						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GTCGCGACGTCCCAGTCCAGC	0.602																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(685-687)Gac>Aac		family with sequence similarity 86, member A							48	53	51					16																	5140142		1425	2491	3916	SO:0001583	missense	196483							g.chr16:5140142C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.685G>A	16.37:g.5140142C>T	ENSP00000398502:p.Asp229Asn					FAM86A_ENST00000458008.4_Missense_Mutation_p.D195N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D168N	p.D229N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			6	753	-			229					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.685G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911632	0.52439	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.06687	3.27;3.27	5.02	5.02	0.67125	.	0.452097	0.23549	N	0.046998	T	0.12220	0.0297	L	0.50333	1.59	0.49389	D	0.999781	P;B	0.36392	0.551;0.34	B;B	0.40982	0.345;0.14	T	0.15435	-1.0437	10	0.17832	T	0.49	.	17.1053	0.86660	0.0:1.0:0.0:0.0	.	195;229	Q96G04-2;Q96G04	.;FA86A_HUMAN	N	195;229	ENSP00000389710:D195N;ENSP00000398502:D229N	ENSP00000398502:D229N	D	-	1	0	FAM86A	5080143	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	3.106000	0.50322	2.620000	0.88729	0.450000	0.29827	GAC		0.602	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		6	263	0	0	0	1	0	6	263					T	5140142	C	T	5140142	3	4	13	1	0	0	0	0	1	0	0	0	5668	855	30	2	319	2	FAM86A	16	5140142	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	2325173	5140142	85214611	52	1589											
MMP2	4313	broad.mit.edu	37	chr16	55519538	55519538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgtgaagtatgggaaCgccgatggggagtactgcaa	16	7	0	1	rs558609366	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:55519538C>T	ENST00000219070.4	+	5	1190	c.681C>T	c.(679-681)aaC>aaT	p.N227N	MMP2_ENST00000437642.2_Silent_p.N177N|MMP2_ENST00000543485.1_Silent_p.N151N|MMP2_ENST00000570308.1_Silent_p.N151N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	227	Collagen-binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGTATGGGAACGCCGATGGGG	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20495	0.0		0.001	False		,,,				2504	0.0					ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(679-681)aaC>aaT		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						130	110	117					16																	55519538		2198	4300	6498	SO:0001819	synonymous_variant	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519538C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.681C>T	16.37:g.55519538C>T						MMP2_ENST00000570308.1_Silent_p.N151N|MMP2_ENST00000437642.2_Silent_p.N177N|MMP2_ENST00000543485.1_Silent_p.N151N	p.N227N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	5	1190	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	227			Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.681C>T	CCDS10752.1																																																																																				0.542	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			20	569	0	0	0	1	0	20	569					T	55519538	C	T	55519538	2	4	13	1	0	0	0	0	0	0	0	1	9699	535	19	1		1	MMP2	16	55519538	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	50379396	55519538	34835215	53	1590											
MMP15	4324	broad.mit.edu	37	chr16	58074496	58074496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcgctggggctggaGcactccagcaaccccaatgc	13	16	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:58074496G>A	ENST00000219271.3	+	5	1589	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	268					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TGGGGCTGGAGCACTCCAGCA	0.607																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(802-804)gaG>gaA		matrix metallopeptidase 15 (membrane-inserted)							94	77	83					16																	58074496		2198	4300	6498	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58074496G>A	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.804G>A	16.37:g.58074496G>A							p.E268E	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			5	1589	+			268					A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.804G>A	CCDS10792.1																																																																																				0.607	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		8	279	0	0	0	1	0	8	279					A	58074496	G	A	58074496	2	1	13	1	0	0	0	0	0	0	0	1	9695	962	34	2		2	MMP15	16	58074496	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	2554958	58074496	32280257	54	1591											
GAN	8139	broad.mit.edu	37	chr16	81411107	81411107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccatccgaccttcgccGtacaggatgtgcagccttac	8	16	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:81411107G>A	ENST00000568107.2	+	11	1862	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	567					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GACCTTCGCCGTACAGGATGT	0.502																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(1699-1701)cGt>cAt		gigaxonin							239	207	218					16																	81411107		2201	4300	6501	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81411107G>A	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1700G>A	16.37:g.81411107G>A	ENSP00000476795:p.Arg567His						p.R567H	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			11	1862	+		Colorectal(91;0.153)	567						Missense_Mutation	SNP	ENST00000568107.2	37	c.1700G>A	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707089	0.68615	.	.	ENSG00000127688	ENST00000248272	T	0.75821	-0.97	5.58	5.58	0.84498	.	0.215268	0.39985	N	0.001206	T	0.64681	0.2620	N	0.14661	0.345	0.53005	D	0.999966	D	0.61080	0.989	P	0.45232	0.474	T	0.66052	-0.6019	10	0.33141	T	0.24	.	19.5747	0.95438	0.0:0.0:1.0:0.0	.	567	Q9H2C0	GAN_HUMAN	H	567	ENSP00000248272:R567H	ENSP00000248272:R567H	R	+	2	0	GAN	79968608	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.272000	0.72575	2.631000	0.89168	0.467000	0.42956	CGT		0.502	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			7	921	0	0	0	1	0	7	921					A	81411107	G	A	81411107	3	1	13	1	0	0	0	0	1	0	0	0	6260	1145	40	1	1742	1	GAN	16	81411107	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	23336611	81411107	8943646	55	1592											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	12	13	1	0	rs587781288		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|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 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)	CTGCACAGGGCAGGTCTTGGC	0.572		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)	ENST00000420246.2		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"		121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(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	GRCh37	CM993216	TP53	M		c.(421-423)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							56	55	55					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578508C>T	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.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr	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_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	554	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|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 LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.422G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	197	0	0	0	1	0	8	197					T	7578508	C	T	7578508	3	4	13	1	0	0	0	0	1	0	0	0	16434	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		7578508	73616702	56	1593											
TUBG2	27175	broad.mit.edu	37	chr17	40817827	40817827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaccggctacaccccGctcactacagaccagtcagt	7	17	3	2	rs375295846		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:40817827G>A	ENST00000251412.7	+	8	1024	c.825G>A	c.(823-825)ccG>ccA	p.P275P	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	275					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTACACCCCGCTCACTACAG	0.637																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(823-825)ccG>ccA		tubulin, gamma 2		G		1,4405	2.1+/-5.4	0,1,2202	145	131	136		825	1.4	1	17		136	0,8600		0,0,4300	no	coding-synonymous	TUBG2	NM_016437.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		275/452	40817827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40817827G>A	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.825G>A	17.37:g.40817827G>A							p.P275P	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	8	1024	+		Breast(137;0.00116)	275					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.825G>A	CCDS32658.1																																																																																				0.637	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		29	585	0	0	0	1	0	29	585					A	40817827	G	A	40817827	2	1	13	1	0	0	0	0	0	0	0	1	16819	1074	38	1		1	TUBG2	17	40817827	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	33239319	40817827	40377383	57	1594											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		9	283						9	283	---	---	---	---	-	11038364	GCT	-	11038362	7	5	13	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-2J-AABR-01A-11D-A40W-08		11038362	48090621	58	1595											
AKAP8L	26993	broad.mit.edu	37	chr19	15511839	15511841	+	In_Frame_Del	DEL	TCT	TCT	-													aggactgccgccctgctttcTcttcttcttcttggtctggg							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:15511839_15511841delTCT	ENST00000397410.5	-	6	960_962	c.830_832delAGA	c.(829-834)aagaga>aga	p.K277del	AKAP8L_ENST00000595465.2_In_Frame_Del_p.K216del|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	277						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTGCTTTCTCTTCTTCTTCTT	0.601																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(829-834)aga>a		A kinase (PRKA) anchor protein 8-like																																				SO:0001651	inframe_deletion	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15511839_15511841delTCT	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.830_832delAGA	19.37:g.15511848_15511850delTCT	ENSP00000380557:p.Lys277del					AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_In_Frame_Del_p.KR216del	p.KR277del	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			6	894_896	-			277					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	In_Frame_Del	DEL	ENST00000397410.5	37	c.830_832delAGA	CCDS46005.1																																																																																				0.601	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		8	202						8	202	---	---	---	---	-	15511841	TCT	-	15511839	7	5	13	1	0	1	0	1	0	0	0	0	458	1559	54	0	1144	0	AKAP8L	19	15511839	In_Frame_Del	DEL	TCT	TCGA-2J-AABR-01A-11D-A40W-08	4473477	15511839	43617144	59	1596											
ZNF737	100129842	broad.mit.edu	37	chr19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattatcttatgtgta	8	5	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(838-840)aCt>aGt		zinc finger protein 737							35	35	35					19																	20728170		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728170G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.839C>G	19.37:g.20728170G>C	ENSP00000395733:p.Thr280Ser						p.T280S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	933	-			280					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.839C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.999	0.755032	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.24151	1.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.08492	0.0211	N	0.01257	-0.925	0.26687	N	0.97143	B	0.11235	0.004	B	0.20577	0.03	T	0.29852	-0.9998	9	0.56958	D	0.05	.	6.1513	0.20313	0.0:0.3233:0.6767:0.0	.	280	C9JHM3	.	S	280	ENSP00000395733:T280S	ENSP00000395733:T280S	T	-	2	0	ZNF737	20520010	0.013000	0.17824	0.087000	0.20705	0.088000	0.18126	0.098000	0.15189	-1.262000	0.02459	-1.289000	0.01358	ACT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	326	0	0	0	1	0	4	326					C	20728170	G	C	20728170	3	2	13	1	0	0	0	0	1	0	0	0	18179	1029	36	5	775	5	ZNF737	19	20728170	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	5216331	20728170	38400813	60	1597											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		12	1255						12	1255	---	---	---	---	-	36054351	CTT	-	36054349	7	5	13	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-2J-AABR-01A-11D-A40W-08	15326179	36054349	23074634	61	1598											
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctcgtccactgtatgCcggtccatatataattattt	6	9	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247	230	236					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		8	1137	0	0	0	1	0	8	1137					T	43528993	C	T	43528993	3	4	13	1	0	0	0	0	1	0	0	0	12701	739	26	2	743	2	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	7474644	43528993	15599990	62	1599											
CD3EAP	10849	broad.mit.edu	37	chr19	45911871	45911871	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtgcggaagaagaagaaGaaaaaaaatcagcagctgaa	12	4	1	5			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:45911871G>A	ENST00000309424.3	+	3	1133	c.645G>A	c.(643-645)aaG>aaA	p.K215K	CD3EAP_ENST00000589804.1_Silent_p.K217K|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	215	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587																																						ENST00000309424.3																			1	Substitution - Missense(1)	p.K215N(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(643-645)aaG>aaA		CD3e molecule, epsilon associated protein							64	77	73					19																	45911871		2203	4299	6502	SO:0001819	synonymous_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911871G>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.645G>A	19.37:g.45911871G>A						ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.K217K	p.K215K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1133	+		all_neural(266;0.224)|Ovarian(192;0.231)	215			Poly-Lys.		Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	c.645G>A	CCDS12661.1																																																																																				0.587	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		14	493	0	0	0	1	0	14	493					A	45911871	G	A	45911871	2	1	13	1	0	0	0	0	0	0	0	1	3021	933	33	2		2	CD3EAP	19	45911871	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	2382878	45911871	13217112	63	1600											
PLA2G4C	8605	broad.mit.edu	37	chr19	48571097	48571097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattcccactttgaagcGcaaatgcctgttttcttcac	5	15	2	1	rs531073017		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:48571097G>A	ENST00000599921.1	-	13	1410	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000413144.2_Silent_p.C351C|PLA2G4C_ENST00000599111.1_Silent_p.C361C|PLA2G4C_ENST00000354276.3_Silent_p.C351C|PLA2G4C_ENST00000596510.1_5'UTR			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	351	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTTTGAAGCGCAAATGCCTG	0.512																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(1051-1053)tgC>tgT		phospholipase A2, group IVC (cytosolic, calcium-independent)							306	300	302					19																	48571097		2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48571097G>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1053C>T	19.37:g.48571097G>A						PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Silent_p.C351C|PLA2G4C_ENST00000599921.1_Silent_p.C351C|PLA2G4C_ENST00000599111.1_Silent_p.C361C	p.C351C	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	13	1380	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	351			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.1053C>T	CCDS12710.1																																																																																				0.512	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			9	1521	0	0	0	1	0	9	1521					A	48571097	G	A	48571097	2	1	13	1	0	0	0	0	0	0	0	1	12045	1079	38	1		1	PLA2G4C	19	48571097	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	2659226	48571097	10557886	64	1601											
FUT2	2524	broad.mit.edu	37	chr19	49207099	49207099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgttcgggatctgggccGcatacctcacgggcggagac	16	12	2	1	rs79097987	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:49207099G>A	ENST00000425340.2	+	2	1003	c.886G>A	c.(886-888)Gca>Aca	p.A296T	FUT2_ENST00000391876.4_Missense_Mutation_p.A296T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	296					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GATCTGGGCCGCATACCTCAC	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		19353	0.001		0.0	False		,,,				2504	0.001					ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(886-888)Gca>Aca		fucosyltransferase 2 (secretor status included)							241	196	211					19																	49207099		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207099G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.886G>A	19.37:g.49207099G>A	ENSP00000387498:p.Ala296Thr					FUT2_ENST00000391876.4_Missense_Mutation_p.A296T	p.A296T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	1003	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	296					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.886G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648931	0.47362	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.97378	-4.36;-4.36	4.99	4.99	0.66335	.	.	.	.	.	D	0.96852	0.8972	M	0.90759	3.145	0.39962	D	0.974675	P	0.52577	0.954	B	0.39339	0.297	D	0.98093	1.0410	8	.	.	.	.	16.1416	0.81528	0.0:0.0:1.0:0.0	.	296	Q10981	FUT2_HUMAN	T	296	ENSP00000387498:A296T;ENSP00000375748:A296T	.	A	+	1	0	FUT2	53898911	1.000000	0.71417	0.980000	0.43619	0.153000	0.21895	5.966000	0.70395	2.465000	0.83290	0.549000	0.68633	GCA		0.557	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		7	617	0	0	0	1	0	7	617					A	49207099	G	A	49207099	3	1	13	1	0	0	0	0	1	0	0	0	6131	1087	38	1	888	1	FUT2	19	49207099	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	636002	49207099	9921884	65	1602											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-													gctgcacatggagcagcggaAgcagcagcagcagcagcagc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(1198-1203)aag>a		nucleobindin 1																																				SO:0001651	inframe_deletion	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49425109_49425111delAGC	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1199_1201delAGC	19.37:g.49425118_49425120delAGC	ENSP00000385923:p.Gln407del					NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del	p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	12	1533_1535	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	400					B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	c.1199_1201delAGC	CCDS12740.1																																																																																				0.64	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		7	211						7	211	---	---	---	---	-	49425111	AGC	-	49425109	7	5	13	1	0	1	0	1	0	0	0	0	10760	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-2J-AABR-01A-11D-A40W-08	218010	49425109	9703874	66	1603											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	922	0	0	0	1	0	9	922					A	53644386	T	A	53644386	2	1	13	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	4219277	53644386	5484597	67	1604											
NLRP9	338321	broad.mit.edu	37	chr19	56244158	56244158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctagcctctgtttcaCacaagtacagaccaaccagc	5	16	3	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56244158C>T	ENST00000332836.2	-	2	1066	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		CTCTGTTTCACACAAGTACAG	0.418																																						ENST00000332836.2																			0				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						c.(1039-1041)Gtg>Atg		NLR family, pyrin domain containing 9							108	104	105					19																	56244158		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244158C>T	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.1039G>A	19.37:g.56244158C>T	ENSP00000331857:p.Val347Met						p.V347M	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1066	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	347			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1039G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	0.863	-0.734758	0.03111	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84298	-1.83	2.56	-5.13	0.02884	.	.	.	.	.	T	0.57504	0.2058	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46512	-0.9186	9	0.59425	D	0.04	.	2.9394	0.05825	0.192:0.1001:0.4605:0.2475	.	347	Q7RTR0	NALP9_HUMAN	M	347	ENSP00000331857:V347M	ENSP00000331857:V347M	V	-	1	0	NLRP9	60935970	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.639000	0.00865	-2.030000	0.00929	-0.313000	0.08912	GTG		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		20	614	0	0	0	1	0	20	614					T	56244158	C	T	56244158	3	4	13	1	0	0	0	0	1	0	0	0	10526	478	17	2	1968	2	NLRP9	19	56244158	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	2599772	56244158	2884825	68	1605											
NLRP5	126206	broad.mit.edu	37	chr19	56539375	56539375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccaggacttctgtgcCgccttgtactacgtgttaga	10	11	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56539375C>T	ENST00000390649.3	+	7	1776	c.1776C>T	c.(1774-1776)gcC>gcT	p.A592A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	592	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACTTCTGTGCCGCCTTGTACT	0.532																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1774-1776)gcC>gcT		NLR family, pyrin domain containing 5							64	64	64					19																	56539375		2025	4189	6214	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539375C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1776C>T	19.37:g.56539375C>T							p.A592A	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1776	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	592			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1776C>T	CCDS12938.1																																																																																				0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		5	137	0	0	0	1	0	5	137					T	56539375	C	T	56539375	2	4	13	1	0	0	0	0	0	0	0	1	10522	639	23	1		1	NLRP5	19	56539375	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	295217	56539375	2589608	69	1606											
CHD6	84181	broad.mit.edu	37	chr20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaacgggaaatgatgcGgaactgtgtccagtcaaagg	13	8	1	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4444-4446)Cgc>Tgc		chromodomain helicase DNA binding protein 6							163	170	168					20																	40052243		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052243G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4444C>T	20.37:g.40052243G>A	ENSP00000362330:p.Arg1482Cys						p.R1482C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			30	4621	-		Myeloproliferative disorder(115;0.00425)	1482					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4444C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928613	0.92389	.	.	ENSG00000124177	ENST00000373233	D	0.94793	-3.52	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000007	D	0.97876	0.9302	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97909	1.0307	10	0.87932	D	0	-12.954	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1482	Q8TD26	CHD6_HUMAN	C	1482	ENSP00000362330:R1482C	ENSP00000362330:R1482C	R	-	1	0	CHD6	39485657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.405000	0.73272	2.884000	0.98904	0.655000	0.94253	CGC		0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			6	837	0	0	0	1	0	6	837					A	40052243	G	A	40052243	3	1	13	1	0	0	0	0	1	0	0	0	3338	1116	39	1	3735	1	CHD6	20	40052243	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		40052243	22973277	70	1607											
PREX1	57580	broad.mit.edu	37	chr20	47309283	47309283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgtagagggagccGttgatggatttggtcctctt	14	6	1	4	rs542577892		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:47309283G>A	ENST00000371941.3	-	8	985	c.963C>T	c.(961-963)aaC>aaT	p.N321N	PREX1_ENST00000396220.1_Silent_p.N321N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	321	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAGGGAGCCGTTGATGGATT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.001					ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(961-963)aaC>aaT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							276	219	238					20																	47309283		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47309283G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.963C>T	20.37:g.47309283G>A						PREX1_ENST00000371941.3_Silent_p.N321N	p.N321N			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		8	985	-			321			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.963C>T	CCDS13410.1																																																																																				0.552	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		11	416	0	0	0	1	0	11	416					A	47309283	G	A	47309283	2	1	13	1	0	0	0	0	0	0	0	1	12523	1136	40	1		1	PREX1	20	47309283	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	7257040	47309283	15716237	71	1608											
FAM65C	140876	broad.mit.edu	37	chr20	49218732	49218732	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgagggccacgccaggCccgtcctctctgtccccggt	11	20	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:49218732C>A	ENST00000327979.2	-	13	1935	c.1524G>T	c.(1522-1524)ggG>ggT	p.G508G	FAM65C_ENST00000045083.2_Silent_p.G508G|FAM65C_ENST00000535356.1_Silent_p.G512G			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACGCCAGGCCCGTCCTCTC	0.697																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1522-1524)ggG>ggT		family with sequence similarity 65, member C							27	28	28					20																	49218732		2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49218732C>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1524G>T	20.37:g.49218732C>A						FAM65C_ENST00000045083.2_Silent_p.G508G|FAM65C_ENST00000535356.1_Silent_p.G512G	p.G508G			Q96MK2	FA65C_HUMAN			13	1935	-			508					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.1524G>T	CCDS13431.2																																																																																				0.697	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			5	158	1	0	0.0215528	1	0.0217014	5	158					A	49218732	C	A	49218732	2	1	13	1	0	0	0	0	0	0	0	1	5626	726	26	3		3	FAM65C	20	49218732	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	1909449	49218732	13806788	72	1609											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D|CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	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.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		7	428						7	428	---	---	---	---	-	26906185	TCA	-	26906183	7	5	13	1	0	1	0	1	0	0	0	0	15859	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-2J-AABR-01A-11D-A40W-08		26906183	24398383	73	1610											
CRYBB1	1414	broad.mit.edu	37	chr22	27008105	27008105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatttgagcactcccccGagaattctgctcgacggccc	9	16	1	3			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:27008105G>A	ENST00000215939.2	-	3	360	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	77	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.S77L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCACTCCCCCGAGAATTCTGC	0.612																																						ENST00000215939.2																			1	Substitution - Missense(1)	p.S77L(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(229-231)tCg>tTg		crystallin, beta B1							88	78	81					22																	27008105		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27008105G>A		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.230C>T	22.37:g.27008105G>A	ENSP00000215939:p.Ser77Leu						p.S77L	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			3	360	-			77			Beta/gamma crystallin 'Greek key' 1.			Missense_Mutation	SNP	ENST00000215939.2	37	c.230C>T	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312232	0.23908	.	.	ENSG00000100122	ENST00000215939	T	0.77489	-1.1	3.85	3.85	0.44370	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.811995	0.11262	N	0.582484	T	0.71213	0.3313	L	0.54863	1.705	0.33899	D	0.638222	B	0.31209	0.313	B	0.27887	0.084	T	0.76088	-0.3087	10	0.51188	T	0.08	.	8.8646	0.35278	0.1045:0.0:0.8955:0.0	.	77	P53674	CRBB1_HUMAN	L	77	ENSP00000215939:S77L	ENSP00000215939:S77L	S	-	2	0	CRYBB1	25338105	0.935000	0.31712	0.999000	0.59377	0.438000	0.31896	1.500000	0.35682	1.961000	0.56991	0.491000	0.48974	TCG		0.612	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		18	367	0	0	0	1	0	18	367					A	27008105	G	A	27008105	3	1	13	1	0	0	0	0	1	0	0	0	3919	1059	37	1	544	1	CRYBB1	22	27008105	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	101922	27008105	24296461	74	1611											
EWSR1	2130	broad.mit.edu	37	chr22	29694812	29694813	+	Frame_Shift_Ins	INS	-	-	G													cttccctccaagaggaccccINSggggttcccgagggaacccc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:29694812_29694813insG	ENST00000397938.2	+	14	1826_1827	c.1507_1508insG	c.(1507-1509)cggfs	p.R503fs	EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.R447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.R502fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.R465fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.R508fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.R430fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	503	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R503Q(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAGGACCCCGGGGTTCCCGA	0.604			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R503Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1507-1509)gggfs		EWS RNA-binding protein 1																																				SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29694812_29694813insG		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1511dupG	22.37:g.29694816_29694816dupG	ENSP00000381031:p.Arg503fs					EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs	p.G503fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			14	1826_1827	+			503			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Ins	INS	ENST00000397938.2	37	c.1507_1508insG	CCDS13851.1																																																																																				0.604	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		11	585						11	585	---	---	---	---	G	29694813	-	G	29694812	7	5	13	1	0	1	1	0	0	0	0	0	5314	643	23	0	1678	0	EWSR1	22	29694812	Frame_Shift_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08	2686707	29694812	21609754	75	1612											
MICALL1	85377	broad.mit.edu	37	chr22	38323617	38323617	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccctgtcagcctctcTaccaactcctccctggcctc	6	19	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:38323617T>A	ENST00000215957.6	+	9	1791	c.1665T>A	c.(1663-1665)tcT>tcA	p.S555S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	555	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCAGCCTCTCTACCAACTCCT	0.632																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1663-1665)tcT>tcA		MICAL-like 1							166	152	157					22																	38323617		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323617T>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1665T>A	22.37:g.38323617T>A						MICALL1_ENST00000402631.1_3'UTR	p.S555S	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			9	1791	+	Melanoma(58;0.045)		555			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1665T>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	T	0.550	-0.849771	0.02651	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.57394	-0.7819	4	.	.	.	.	8.7087	0.34371	0.1652:0.5937:0.0749:0.1661	.	.	.	.	N	133	.	.	Y	+	1	0	MICALL1	36653563	0.000000	0.05858	0.020000	0.16555	0.047000	0.14425	-3.105000	0.00602	-2.558000	0.00475	0.454000	0.30748	TAC		0.632	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		17	682	0	0	0	1	0	17	682					A	38323617	T	A	38323617	2	1	13	1	0	0	0	0	0	0	0	1	9614	1509	53	5		5	MICALL1	22	38323617	Silent	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	8628805	38323617	12980949	76	1613											
L3MBTL2	83746	broad.mit.edu	37	chr22	41609955	41609955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccttcttctccaagaccaaGaggttctgcagcgtctcctg	9	14	4	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:41609955G>A	ENST00000216237.5	+	3	479	c.321G>A	c.(319-321)aaG>aaA	p.K107K	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	107					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K107N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGACCAAGAGGTTCTGCA	0.512																																						ENST00000216237.5																			1	Substitution - Missense(1)	p.K107N(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(319-321)aaG>aaA		l(3)mbt-like 2 (Drosophila)							155	140	145					22																	41609955		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41609955G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.321G>A	22.37:g.41609955G>A						L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	p.K107K	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			3	479	+			107					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.321G>A	CCDS14011.1																																																																																				0.512	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		15	515	0	0	0	1	0	15	515					A	41609955	G	A	41609955	2	1	13	1	0	0	0	0	0	0	0	1	8623	933	33	2		2	L3MBTL2	22	41609955	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	3286338	41609955	9694611	77	1614											
PKDREJ	10343	broad.mit.edu	37	chr22	46653425	46653425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagacttcaaatatgaccGaaatgctacagaacagattt	8	7	1	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:46653425G>A	ENST00000253255.5	-	1	5794	c.5795C>T	c.(5794-5796)tCg>tTg	p.S1932L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1932					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATATGACCGAAATGCTACA	0.373																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(5794-5796)tCg>tTg		polycystin (PKD) family receptor for egg jelly							80	84	83					22																	46653425		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653425G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5795C>T	22.37:g.46653425G>A	ENSP00000253255:p.Ser1932Leu						p.S1932L	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5794	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1932					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5795C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660688	0.29515	.	.	ENSG00000130943	ENST00000253255	T	0.71461	-0.57	5.55	4.52	0.55395	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.53938	D	0.000059	T	0.77916	0.4202	L	0.47716	1.5	0.20563	N	0.99989	D	0.89917	1.0	D	0.91635	0.999	T	0.68236	-0.5462	10	0.59425	D	0.04	-21.0782	11.7598	0.51896	0.084:0.0:0.916:0.0	.	1932	Q9NTG1	PKDRE_HUMAN	L	1932	ENSP00000253255:S1932L	ENSP00000253255:S1932L	S	-	2	0	PKDREJ	45032089	0.914000	0.31030	0.108000	0.21378	0.096000	0.18686	2.674000	0.46867	2.618000	0.88619	0.455000	0.32223	TCG		0.373	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	276	0	0	0	1	0	6	276					A	46653425	G	A	46653425	3	1	13	1	0	0	0	0	1	0	0	0	12012	1059	37	1	970	1	PKDREJ	22	46653425	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	5043470	46653425	4651141	78	1615											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		10	175						10	175	---	---	---	---	-	21627680	GAG	-	21627678	7	5	13	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-2J-AABR-01A-11D-A40W-08		21627678	133642882	79	1616											
YY2	404281	broad.mit.edu	37	chrX	21875556	21875556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcacattcgaaggctgCgggaaacgcttttcccttga	11	11	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:21875556C>T	ENST00000429584.2	+	1	1452	c.954C>T	c.(952-954)tgC>tgT	p.C318C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	318	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCGAAGGCTGCGGGAAACGCT	0.532																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(952-954)tgC>tgT		YY2 transcription factor							180	179	179					X																	21875556		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875556C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.954C>T	X.37:g.21875556C>T						MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	p.C318C	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1452	+			318			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.954C>T	CCDS14202.1																																																																																				0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		8	1386	0	0	0	1	0	8	1386					T	21875556	C	T	21875556	2	4	13	1	0	0	0	0	0	0	0	1	17563	776	27	1		1	YY2	23	21875556	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	247878	21875556	133395004	80	1617											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		11	874						11	874	---	---	---	---	-	37312611	C	-	37312611	7	5	13	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-2J-AABR-01A-11D-A40W-08	15437055	37312611	117957949	81	1618											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			14	54						14	54	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	13	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-2J-AABR-01A-11D-A40W-08	13926685	51239296	104031264	82	1619											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	211						8	211	---	---	---	---	-	70360682	GCA	-	70360680	7	5	13	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-2J-AABR-01A-11D-A40W-08	19121384	70360680	84909880	83	1620											
PGAM4	441531	broad.mit.edu	37	chrX	77224488	77224488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgtccaattcatagacGatgggaataccagtcggcag	10	9	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:77224488G>A	ENST00000458128.1	-	1	647	c.648C>T	c.(646-648)atC>atT	p.I216I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	216					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						ATTCATAGACGATGGGAATAC	0.537																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(646-648)atC>atT		phosphoglycerate mutase family member 4							98	92	94					X																	77224488		2203	4293	6496	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224488G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.648C>T	X.37:g.77224488G>A						ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	p.I216I	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	647	-			216					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.648C>T	CCDS35338.1																																																																																				0.537	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		7	742	0	0	0	1	0	7	742					A	77224488	G	A	77224488	2	1	13	1	0	0	0	0	0	0	0	1	11817	1048	37	1		1	PGAM4	23	77224488	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	6863808	77224488	78046072	84	1621											
BEX2	84707	broad.mit.edu	37	chrX	102564580	102564580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcagtgctgactgcccGcaaactatgactcaactgct	10	12	2	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:102564580G>A	ENST00000372677.3	-	3	592	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	BEX2_ENST00000536889.1_Missense_Mutation_p.R141W|BEX2_ENST00000372674.1_Missense_Mutation_p.R109W	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	109					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						CTGACTGCCCGCAAACTATGA	0.507																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(421-423)Cgg>Tgg		brain expressed X-linked 2							222	182	196					X																	102564580		2203	4300	6503	SO:0001583	missense	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564580G>A	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.325C>T	X.37:g.102564580G>A	ENSP00000361762:p.Arg109Trp					BEX2_ENST00000372677.3_Missense_Mutation_p.R109W|BEX2_ENST00000372674.1_Missense_Mutation_p.R109W	p.R141W	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN			3	778	-			109					B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	ENST00000372677.3	37	c.421C>T	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681005	0.47886	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674	T;T;T	0.15952	2.42;2.38;2.42	4.29	2.44	0.29823	.	0.162857	0.29253	N	0.012700	T	0.38161	0.1030	M	0.83953	2.67	0.28106	N	0.931193	D;D	0.89917	0.999;1.0	D;D	0.68483	0.91;0.958	T	0.15780	-1.0425	10	0.44086	T	0.13	.	8.329	0.32175	0.0:0.0:0.5702:0.4298	.	109;141	Q9BXY8;F5H7H5	BEX2_HUMAN;.	W	109;141;109	ENSP00000361762:R109W;ENSP00000442521:R141W;ENSP00000361759:R109W	ENSP00000361759:R109W	R	-	1	2	BEX2	102451236	0.638000	0.27225	0.551000	0.28230	0.784000	0.44337	0.741000	0.26202	0.518000	0.28383	0.600000	0.82982	CGG		0.507	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		9	817	0	0	0	1	0	9	817					A	102564580	G	A	102564580	3	1	13	1	0	0	0	0	1	0	0	0	1413	1086	38	1	65	1	BEX2	23	102564580	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	25340092	102564580	52705980	85	1622											
IGSF1	3547	broad.mit.edu	37	chrX	130416639	130416639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccactggtcctcgacacCgtaggctcacattctgaccc	7	17	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:130416639C>T	ENST00000361420.3	-	7	1104	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(997-999)cGg>cAg		immunoglobulin superfamily, member 1							134	112	120					X																	130416639		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416639C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1025G>A	X.37:g.130416639C>T	ENSP00000355010:p.Arg342Gln					IGSF1_ENST00000370903.3_Missense_Mutation_p.R342Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342Q	p.R333Q			Q8N6C5	IGSF1_HUMAN			13	1908	-			342			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.998G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	1.457	-0.563461	0.03939	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.78	-0.153	0.13403	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.769840	0.02967	N	0.143897	T	0.07954	0.0199	N	0.17872	0.535	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.26985	-1.0087	10	0.21014	T	0.42	.	0.7403	0.00972	0.1686:0.3668:0.1618:0.3028	.	333;342	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Q	333;342;333;342	ENSP00000359947:R333Q;ENSP00000355010:R342Q;ENSP00000359941:R333Q;ENSP00000359940:R342Q	ENSP00000355010:R342Q	R	-	2	0	IGSF1	130244320	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.077000	0.11394	-0.295000	0.08960	0.594000	0.82650	CGG		0.498	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			13	379	0	0	0	1	0	13	379					T	130416639	C	T	130416639	3	4	13	1	0	0	0	0	1	0	0	0	7626	652	23	1	3056	1	IGSF1	23	130416639	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	27852059	130416639	24853921	86	1623											
MAGEC1	9947	broad.mit.edu	37	chrX	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctccacttt					rs141900922|rs138660605|rs386828016		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	1652						8	1652	---	---	---	---	-	140994116	CTC	-	140994114	7	5	13	1	0	1	0	1	0	0	0	0	9221	796	28	0	930	0	MAGEC1	23	140994114	In_Frame_Del	DEL	CTC	TCGA-2J-AABR-01A-11D-A40W-08	10577475	140994114	14276446	87	1624											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1034						7	1034	---	---	---	---	-	149984526	GTG	-	149984524	7	5	13	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-2J-AABR-01A-11D-A40W-08	8990410	149984524	5286036	88	1625											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		10	465						10	465	---	---	---	---	-	151303908	AGG	-	151303906	7	5	13	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-2J-AABR-01A-11D-A40W-08	1319382	151303906	3966654	89	1626											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	165						7	165	---	---	---	---	-	152087572	GAG	-	152087570	7	5	13	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-2J-AABR-01A-11D-A40W-08	783664	152087570	3182990	90	1627											
PLXNB3	5365	broad.mit.edu	37	chrX	153036266	153036266	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggtcgaaggcctggcAggtccccacctggtgcctgt	13	15	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:153036266A>T	ENST00000361971.5	+	11	2178	c.2064A>T	c.(2062-2064)gcA>gcT	p.A688A	PLXNB3_ENST00000538776.1_Silent_p.A341A|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.A711A|PLXNB3_ENST00000538282.1_Silent_p.A298A	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	688					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCCTGGCAGGTCCCCACC	0.622																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2131-2133)gcA>gcT		plexin B3							51	52	51					X																	153036266		2198	4299	6497	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036266A>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2064A>T	X.37:g.153036266A>T						PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Silent_p.A341A|PLXNB3_ENST00000361971.5_Silent_p.A688A|PLXNB3_ENST00000538282.1_Silent_p.A298A	p.A711A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			12	2404	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		688					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.2133A>T	CCDS14729.1																																																																																				0.622	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	262	0	0	0	1	0	6	262					T	153036266	A	T	153036266	2	4	13	1	0	0	0	0	0	0	0	1	12167	175	7	5		5	PLXNB3	23	153036266	Silent	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	948696	153036266	2234294	91	1628											
WDR78	79819	broad.mit.edu	37	chr1	67279820	67279820	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggaatgatgaattatgctGattggtttgacttggatcca	11	4	0	4			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:67279820G>A	ENST00000371026.3	-	17	2595	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	WDR78_ENST00000431318.1_Missense_Mutation_p.S560L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	847					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GAATTATGCTGATTGGTTTGA	0.279																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(2539-2541)tCa>tTa		WD repeat domain 78							48	51	50					1																	67279820		2202	4280	6482	SO:0001583	missense	79819							g.chr1:67279820G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2540C>T	1.37:g.67279820G>A	ENSP00000360065:p.Ser847Leu					WDR78_ENST00000431318.1_Missense_Mutation_p.S560L	p.S847L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			17	2595	-			847					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.2540C>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	4.759	0.141129	0.09083	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67171	0.32;-0.25;-0.25	3.71	0.529	0.17095	.	2.548910	0.01224	N	0.008168	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.11329	0.006;0.003	T	0.10989	-1.0606	10	0.42905	T	0.14	0.159	4.4702	0.11708	0.1105:0.0:0.5018:0.3877	.	560;847	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	L	847;560;580	ENSP00000360065:S847L;ENSP00000393182:S560L;ENSP00000433682:S580L	ENSP00000360065:S847L	S	-	2	0	WDR78	67052408	0.165000	0.22948	0.158000	0.22627	0.038000	0.13279	0.455000	0.21843	0.126000	0.18424	0.643000	0.83706	TCA		0.279	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		20	187	0	0	0	1	0	20	187					A	67279820	G	A	67279820	3	1	14	1	0	0	0	0	1	0	0	0	17382	1294	45	2	10	2	WDR78	1	67279820	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		67279820	181970801	1	1629											
SPRR4	163778	broad.mit.edu	37	chr1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-													tcttcccagcagcagcagcgGcagcagcagcagtgcccacc							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	601						7	601	---	---	---	---	-	152944392	GCA	-	152944390	7	5	14	1	0	1	0	1	0	0	0	0	15156	1190	42	0	26	0	SPRR4	1	152944390	In_Frame_Del	DEL	GCA	TCGA-2J-AABT-01A-11D-A40W-08	85664570	152944390	96306231	2	1630											
GPA33	10223	broad.mit.edu	37	chr1	167023589	167023589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactggtcgaggtggtcCggggattcacgcccagtgct	15	11	2	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167023589C>T	ENST00000367868.3	-	7	1285	c.942G>A	c.(940-942)ccG>ccA	p.P314P	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	314						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAGGTGGTCCGGGGATTCAC	0.597																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(940-942)ccG>ccA		glycoprotein A33 (transmembrane)							169	122	138					1																	167023589		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167023589C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.942G>A	1.37:g.167023589C>T						RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.P314P	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			7	1285	-			314					Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.942G>A	CCDS1258.1																																																																																				0.597	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		5	290	0	0	0	1	0	5	290					T	167023589	C	T	167023589	2	4	14	1	0	0	0	0	0	0	0	1	6615	639	23	1		1	GPA33	1	167023589	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	14079199	167023589	82227032	3	1631											
ADCY10	55811	broad.mit.edu	37	chr1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttacctatcttgactcGgatgtctaggccttcttccc	7	13	3	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167870912G>A	ENST00000367851.4	-	5	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.R50*|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(148-150)Cga>Tga		adenylate cyclase 10 (soluble)							170	164	166					1																	167870912		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167870912G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.424C>T	1.37:g.167870912G>A	ENSP00000356825:p.Arg142*					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*	p.R50*			Q96PN6	ADCYA_HUMAN			5	645	-			142			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.148C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613178	0.87359	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	.	.	.	5.76	3.84	0.44239	.	0.270367	0.26983	N	0.021504	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6457	9.3555	0.38164	0.0:0.1576:0.6786:0.1638	.	.	.	.	X	142;50	.	ENSP00000356822:R50X	R	-	1	2	ADCY10	166137536	0.994000	0.37717	0.106000	0.21319	0.087000	0.18053	2.743000	0.47442	0.734000	0.32515	-0.323000	0.08544	CGA		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		59	447	0	0	0	1	0	59	447					A	167870912	G	A	167870912	4	1	14	1	0	0	0	0	0	1	0	0	293	1124	39	1	4524	1	ADCY10	1	167870912	Nonsense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	847323	167870912	81379709	4	1632											
KCNK2	3776	broad.mit.edu	37	chr1	215408265	215408265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgagtgtggagatttatgAcaagttccagcgggccacct	12	9	0	3			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:215408265A>C	ENST00000444842.2	+	7	1208	c.1058A>C	c.(1057-1059)gAc>gCc	p.D353A	KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A|KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	353					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGATTTATGACAAGTTCCAG	0.552																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1057-1059)gAc>gCc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						84	81	82					1																	215408265		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408265A>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1058A>C	1.37:g.215408265A>C	ENSP00000394033:p.Asp353Ala					KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A|KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A	p.D353A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1208	+			353					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1058A>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609139	0.87258	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.73;1.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.996;0.987;1.0	D;P;D	0.91635	0.966;0.827;0.999	T	0.20207	-1.0282	10	0.49607	T	0.09	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	338;353;349	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	A	349;338;353	ENSP00000375765:D349A;ENSP00000375764:D338A;ENSP00000394033:D353A	ENSP00000375764:D338A	D	+	2	0	KCNK2	213474888	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.270000	0.75569	0.459000	0.35465	GAC		0.552	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		36	216	0	0	0	1	0	36	216					C	215408265	A	C	215408265	3	2	14	1	0	0	0	0	1	0	0	0	8096	275	10	4	1127	4	KCNK2	1	215408265	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08	47537353	215408265	33842356	5	1633											
DYSF	8291	broad.mit.edu	37	chr2	71883405	71883405	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagacagaagatccatctgtGattggtgaatttaaggtaaa	11	4	1	5			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:71883405G>C	ENST00000258104.3	+	42	4900	c.4623G>C	c.(4621-4623)gtG>gtC	p.V1541V	DYSF_ENST00000409762.1_Silent_p.V1558V|DYSF_ENST00000409366.1_Silent_p.V1563V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1549V|DYSF_ENST00000413539.2_Silent_p.V1572V|DYSF_ENST00000394120.2_Silent_p.V1542V|DYSF_ENST00000409582.3_Silent_p.V1579V|DYSF_ENST00000409651.1_Silent_p.V1573V|DYSF_ENST00000410020.3_Silent_p.V1580V|DYSF_ENST00000429174.2_Silent_p.V1562V|DYSF_ENST00000410041.1_Silent_p.V1559V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1541					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCATCTGTGATTGGTGAAT	0.517																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4621-4623)gtG>gtC		dysferlin							265	258	260					2																	71883405		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883405G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4623G>C	2.37:g.71883405G>C						DYSF_ENST00000413539.2_Silent_p.V1572V|DYSF_ENST00000409651.1_Silent_p.V1573V|DYSF_ENST00000410041.1_Silent_p.V1559V|DYSF_ENST00000410020.3_Silent_p.V1580V|DYSF_ENST00000409366.1_Silent_p.V1563V|DYSF_ENST00000394120.2_Silent_p.V1542V|DYSF_ENST00000409582.3_Silent_p.V1579V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1549V|DYSF_ENST00000429174.2_Silent_p.V1562V|DYSF_ENST00000409762.1_Silent_p.V1558V	p.V1541V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4900	+			1541					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4623G>C	CCDS1918.1																																																																																				0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	1143	0	0	0	1	0	10	1143					C	71883405	G	C	71883405	2	2	14	1	0	0	0	0	0	0	0	1	4875	1277	45	5		5	DYSF	2	71883405	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		71883405	171315968	6	1634											
IL18R1	8809	broad.mit.edu	37	chr2	103001403	103001403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtaatttattggatgttcGgggaagaaaatggatcggat	13	2	0	1	rs374788069		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:103001403G>A	ENST00000409599.1	+	8	1110	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	IL18R1_ENST00000233957.1_Missense_Mutation_p.G252R			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	252	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGATGTTCGGGGAAGAAAA	0.328																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(754-756)Ggg>Agg		interleukin 18 receptor 1		G	ARG/GLY	0,4406		0,0,2203	106	110	109		754	-8.2	0	2		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL18R1	NM_003855.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	252/542	103001403	1,13005	2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103001403G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.754G>A	2.37:g.103001403G>A	ENSP00000387211:p.Gly252Arg					IL18R1_ENST00000233957.1_Missense_Mutation_p.G252R	p.G252R			Q13478	IL18R_HUMAN			8	1110	+			252			Ig-like C2-type 3.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.754G>A	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473687	0.04414	0.0	1.16E-4	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01613	4.73;4.73;4.73	4.09	-8.18	0.01053	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.796540	0.00166	N	0.000014	T	0.00695	0.0023	N	0.02539	-0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.49082	-0.8976	10	0.13470	T	0.59	.	1.564	0.02601	0.4484:0.2648:0.1316:0.1551	.	252;252	B7ZKV7;Q13478	.;IL18R_HUMAN	R	252	ENSP00000386663:G252R;ENSP00000387211:G252R;ENSP00000233957:G252R	ENSP00000233957:G252R	G	+	1	0	IL18R1	102367835	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.731000	0.00381	-1.775000	0.01287	-0.362000	0.07510	GGG		0.328	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		5	400	0	0	0	1	0	5	400					A	103001403	G	A	103001403	3	1	14	1	0	0	0	0	1	0	0	0	7677	1116	39	1	776	1	IL18R1	2	103001403	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	31117998	103001403	140197970	7	1635											
POU3F3	5455	broad.mit.edu	37	chr2	105473188	105473188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcgcagggccgcaagcGcaagaagcggacctctatcg	15	14	1	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:105473188G>A	ENST00000361360.2	+	1	1220	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	407					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCGCAAGCGCAAGAAGCGG	0.647																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1219-1221)cGc>cAc		POU class 3 homeobox 3							39	40	39					2																	105473188		2203	4300	6503	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473188G>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1220G>A	2.37:g.105473188G>A	ENSP00000355001:p.Arg407His					RP11-13J10.1_ENST00000598623.1_RNA	p.R407H	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	1220	+			407					P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.1220G>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353431	0.82243	.	.	ENSG00000198914	ENST00000361360	D	0.97303	-4.33	4.14	4.14	0.48551	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	U	0.000017	D	0.99127	0.9699	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98808	1.0742	10	0.87932	D	0	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	407	P20264	PO3F3_HUMAN	H	407	ENSP00000355001:R407H	ENSP00000355001:R407H	R	+	2	0	POU3F3	104839620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.428000	0.80296	1.858000	0.53909	0.462000	0.41574	CGC		0.647	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			4	142	0	0	0	1	0	4	142					A	105473188	G	A	105473188	3	1	14	1	0	0	0	0	1	0	0	0	12318	1087	38	1	1222	1	POU3F3	2	105473188	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	2471785	105473188	137726185	8	1636											
TTN	7273	broad.mit.edu	37	chr2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttcaggattttccGcggtgaccttcacttcacct	6	15	4	1	rs374203813		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:179640850G>A	ENST00000591111.1	-	28	5965	c.5741C>T	c.(5740-5742)gCg>gTg	p.A1914V	TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A1914V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V			Q8WZ42	TITIN_HUMAN	titin	12751	Ig-like 9.				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.A1868V(4)|p.A1914V(4)		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)			AGGATTTTCCGCGGTGACCTT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		22651	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			8	Substitution - Missense(8)	p.A1868V(4)|p.A1914V(4)	prostate(5)|pancreas(3)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5740-5742)gCg>gTg		titin							216	214	215					2																	179640850		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640850G>A	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.5741C>T	2.37:g.179640850G>A	ENSP00000465570:p.Ala1914Val					TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000591111.1_Missense_Mutation_p.A1914V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V	p.A1914V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5965	-			1632			Ig-like 9.		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.5741C>T		.	.	.	.	.	.	.	.	.	.	G	13.82	2.350863	0.41599	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84884	0.5571	M	0.77616	2.38	0.43729	D	0.996215	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.86984	0.2106	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1868;1868;1868;1914;1914	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	1914;1868;1868;1868;1868;1914	ENSP00000343764:A1914V;ENSP00000434586:A1868V;ENSP00000340554:A1868V;ENSP00000352154:A1868V;ENSP00000354117:A1914V	ENSP00000340554:A1868V	A	-	2	0	TTN	179349095	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	9.817000	0.99352	2.385000	0.81259	0.609000	0.83330	GCG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		118	677	0	0	0	1	0	118	677					A	179640850	G	A	179640850	3	1	14	1	0	0	0	0	1	0	0	0	16789	1087	38	1	105587	1	TTN	2	179640850	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	74167662	179640850	63558523	9	1637											
HECW2	57520	broad.mit.edu	37	chr2	197189711	197189711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcatcttacctctcggTgccaaattggattggtggtg	12	8	3	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:197189711T>C	ENST00000260983.3	-	6	916	c.734A>G	c.(733-735)cAc>cGc	p.H245R	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	245	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACCTCTCGGTGCCAAATTGG	0.512																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(733-735)cAc>cGc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							219	197	205					2																	197189711		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197189711T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.734A>G	2.37:g.197189711T>C	ENSP00000260983:p.His245Arg					HECW2_ENST00000409111.1_5'UTR	p.H245R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			6	916	-			245			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.734A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484512	0.84854	.	.	ENSG00000138411	ENST00000260983	T	0.40756	1.02	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.104523	0.64402	D	0.000004	T	0.36166	0.0957	L	0.41236	1.265	0.58432	D	0.999991	P	0.45176	0.852	B	0.39217	0.294	T	0.31752	-0.9932	10	0.59425	D	0.04	.	15.2329	0.73404	0.0:0.0:0.0:1.0	.	245	Q9P2P5	HECW2_HUMAN	R	245	ENSP00000260983:H245R	ENSP00000260983:H245R	H	-	2	0	HECW2	196897956	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.733000	0.68571	2.180000	0.69256	0.533000	0.62120	CAC		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		66	518	0	0	0	1	0	66	518					C	197189711	T	C	197189711	3	2	14	1	0	0	0	0	1	0	0	0	7073	1696	59	4	4080	4	HECW2	2	197189711	Missense_Mutation	SNP	T	TCGA-2J-AABT-01A-11D-A40W-08	17548861	197189711	46009662	10	1638											
ADAM23	8745	broad.mit.edu	37	chr2	207345998	207345998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccagattgaagccttcGgctccaaattcattcttgac	7	12	2	3	rs146209053	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:207345998G>A	ENST00000264377.3	+	3	803	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S|ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	159					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGAAGCCTTCGGCTCCAAATT	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16245	0.0		0.0	False		,,,				2504	0.0				Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(475-477)Ggc>Agc		ADAM metallopeptidase domain 23		G	SER/GLY	17,4389	24.3+/-50.5	0,17,2186	60	61	61		475	5	1	2	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ADAM23	NM_003812.2	56	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign	159/833	207345998	17,12989	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207345998G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.475G>A	2.37:g.207345998G>A	ENSP00000264377:p.Gly159Ser					ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S|ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S	p.G159S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	3	803	+			159					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.475G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887047	0.72410	0.003858	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.16324	2.35;2.35;2.35	5.04	5.04	0.67666	Peptidase M12B, propeptide (1);	0.000000	0.56097	D	0.000038	T	0.34135	0.0887	M	0.78916	2.43	0.58432	D	0.999999	P	0.50156	0.932	P	0.49953	0.627	T	0.14337	-1.0476	10	0.51188	T	0.08	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	159	O75077	ADA23_HUMAN	S	159;159;53;159	ENSP00000264377:G159S;ENSP00000363537:G159S;ENSP00000363536:G159S	ENSP00000264377:G159S	G	+	1	0	ADAM23	207054243	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	4.933000	0.63484	2.492000	0.84095	0.650000	0.86243	GGC		0.383	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		38	200	0	0	0	1	0	38	200					A	207345998	G	A	207345998	3	1	14	1	0	0	0	0	1	0	0	0	245	1116	39	1	485	1	ADAM23	2	207345998	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	10156287	207345998	35853375	11	1639											
RPP14	11102	broad.mit.edu	37	chr3	58302276	58302276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttggacatcctaacctAtgaagagaagaccttgtcag	8	10	1	3			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:58302276A>C	ENST00000445193.3	+	4	608	c.197A>C	c.(196-198)tAt>tCt	p.Y66S	RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S|RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S|RPP14_ENST00000528153.1_5'Flank|RPP14_ENST00000477305.1_3'UTR	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	66					tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		ATCCTAACCTATGAAGAGAAG	0.418																																						ENST00000445193.2																			0				large_intestine(2)|lung(1)	3						c.(196-198)tAt>tCt		ribonuclease P/MRP 14kDa subunit							171	158	162					3																	58302276		2203	4300	6503	SO:0001583	missense	11102				tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding	g.chr3:58302276A>C	AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"ribonuclease P 14kDa subunit"			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.197A>C	3.37:g.58302276A>C	ENSP00000412894:p.Tyr66Ser					RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S|RPP14_ENST00000544156.1_5'UTR|RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S	p.Y66S	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)	4	608	+			66					Q53X97	Missense_Mutation	SNP	ENST00000445193.3	37	c.197A>C	CCDS2888.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167997	0.78339	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.81	4.63	0.57726	.	0.222920	0.48286	D	0.000193	T	0.71970	0.3403	M	0.70275	2.135	0.42354	D	0.992384	D	0.69078	0.997	D	0.68621	0.959	T	0.74460	-0.3658	9	0.87932	D	0	-16.2431	10.9368	0.47249	0.8603:0.0:0.0:0.1397	.	66	O95059	RPP14_HUMAN	S	66	.	ENSP00000295959:Y66S	Y	+	2	0	RPP14	58277316	0.999000	0.42202	0.844000	0.33320	0.913000	0.54294	3.766000	0.55280	0.980000	0.38523	0.533000	0.62120	TAT		0.418	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353527.2	NM_007042		65	426	0	0	0	1	0	65	426					C	58302276	A	C	58302276	3	2	14	1	0	0	0	0	1	0	0	0	13659	449	16	4	207	4	RPP14	3	58302276	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08		58302276	139720154	12	1640											
ARHGAP10	79658	broad.mit.edu	37	chr4	148984411	148984411	+	Frame_Shift_Del	DEL	T	T	-													ccgggtcgtcccctttccccTtttctcctcctgctactgta							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:148984411delT	ENST00000336498.3	+	21	2379	c.2140delT	c.(2140-2142)tttfs	p.F714fs	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCCTTTCCCCTTTTCTCCTCC	0.542																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2140-2142)ttfs		Rho GTPase activating protein 10							140	98	112					4																	148984411		2203	4300	6503	SO:0001589	frameshift_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148984411delT	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2140delT	4.37:g.148984411delT	ENSP00000336923:p.Phe714fs					ARHGAP10_ENST00000414545.2_Intron	p.F714fs	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	21	2379	+	all_hematologic(180;0.151)	Renal(17;0.0166)	714					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000336498.3	37	c.2140delT	CCDS34075.1																																																																																				0.542	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		36	187						36	187	---	---	---	---	-	148984411	T	-	148984411	7	5	14	1	0	1	0	1	0	0	0	0	862	1609	56	0	2222	0	ARHGAP10	4	148984411	Frame_Shift_Del	DEL	T	TCGA-2J-AABT-01A-11D-A40W-08		148984411	42169865	13	1641											
FBXW7	55294	broad.mit.edu	37	chr4	153249472	153249473	+	Frame_Shift_Ins	INS	-	-	AA													gtccgatctgtagatccactINSaatgatgatgttgtctctca							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:153249472_153249473insAA	ENST00000281708.4	-	9	2534_2535	c.1305_1306insTT	c.(1303-1308)attagtfs	p.S436fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S436fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S436fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S356fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S260fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S318fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	436					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTAGATCCACTAATGATGATGT	0.416			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1303-1308)atgtggfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249472_153249473insAA	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1304_1305dupTT	4.37:g.153249473_153249474dupAA	ENSP00000281708:p.Ser436fs					FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.MW259fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.MW435fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.MW355fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.MW317fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.MW435fs	p.MW435fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2534_2535	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	435					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.1305_1306insTT	CCDS3777.1																																																																																				0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			102	665						102	665	---	---	---	---	AA	153249473	-	AA	153249472	7	5	14	1	0	1	1	0	0	0	0	0	5794	1522	53	0	833	0	FBXW7	4	153249472	Frame_Shift_Ins	INS	-	TCGA-2J-AABT-01A-11D-A40W-08	4265061	153249472	37904804	14	1642											
LYSMD3	116068	broad.mit.edu	37	chr5	89814997	89814997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgttgtgctgttaaggccGatactacctcattgaggttc	10	8	1	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr5:89814997G>A	ENST00000315948.6	-	3	704	c.560C>T	c.(559-561)tCg>tTg	p.S187L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	187						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGTTAAGGCCGATACTACCTC	0.413																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(559-561)tCg>tTg		LysM, putative peptidoglycan-binding, domain containing 3							213	203	206					5																	89814997		1884	4116	6000	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814997G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.560C>T	5.37:g.89814997G>A	ENSP00000314518:p.Ser187Leu					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	p.S187L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	704	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	187					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.560C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273371	0.80580	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16597	2.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04737	-1.0930	10	0.27082	T	0.32	-9.2471	19.8807	0.96899	0.0:0.0:1.0:0.0	.	187	Q7Z3D4	LYSM3_HUMAN	L	187	ENSP00000314518:S187L	ENSP00000314518:S187L	S	-	2	0	AC027323.1;LYSMD3	89850753	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	9.444000	0.97578	2.692000	0.91855	0.591000	0.81541	TCG		0.413	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		59	409	0	0	0	1	0	59	409					A	89814997	G	A	89814997	3	1	14	1	0	0	0	0	1	0	0	0	9165	1059	37	1	364	1	LYSMD3	5	89814997	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		89814997	91100263	15	1643											
PCDHA4	56144	broad.mit.edu	37	chr5	140188274	140188274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagcggcgggtaggggAgcgcgcgctgtcgagctacg	21	9	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr5:140188274A>G	ENST00000530339.1	+	1	1502	c.1502A>G	c.(1501-1503)gAg>gGg	p.E501G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E501G|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E501G	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTAGGGGAGCGCGCGCTG	0.662																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1501-1503)gAg>gGg									50	52	52					5																	140188274		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188274A>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1502A>G	5.37:g.140188274A>G	ENSP00000435300:p.Glu501Gly					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E501G|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E501G|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E501G	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1502	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1502A>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	0.011	-1.711301	0.00712	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.60672	0.17;0.17;0.17	4.18	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002920	T	0.29093	0.0723	N	0.03253	-0.375	0.21604	N	0.999629	P;B;B	0.39376	0.67;0.007;0.029	B;B;B	0.41236	0.351;0.03;0.143	T	0.08289	-1.0729	10	0.22109	T	0.4	.	3.7074	0.08405	0.6158:0.1987:0.1855:0.0	.	501;501;501	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	501	ENSP00000423470:E501G;ENSP00000349344:E501G;ENSP00000435300:E501G	ENSP00000349344:E501G	E	+	2	0	PCDHA4	140168458	0.000000	0.05858	0.999000	0.59377	0.330000	0.28571	-0.467000	0.06664	0.583000	0.29574	-0.461000	0.05368	GAG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	311	0	0	0	1	0	7	311					G	140188274	A	G	140188274	3	3	14	1	0	0	0	0	1	0	0	0	11568	304	11	4	1504	4	PCDHA4	5	140188274	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08	50373277	140188274	40726986	16	1644											
ZFP57	4340	broad.mit.edu	37	chr6	29641216	29641216	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcctctccccaagatgCatgcgtctgtgatagctgag	12	11	2	3			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:29641216C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000376883.1_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCCAAGATGCATGCGTCTGT	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(610-612)atG>atA		ZFP57 zinc finger protein							89	101	97					6																	29641216		1363	2608	3971	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641216C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641216C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I|ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I	p.M204I			Q9NU63	ZFP57_HUMAN			6	1023	-			140					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.612G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792387	0.00623	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.16743	2.32;2.32;2.32	4.4	0.484	0.16825	.	0.954223	0.08666	N	0.911597	T	0.00936	0.0031	N	0.01015	-1.05	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47522	-0.9111	10	0.02654	T	1	-0.2227	4.108	0.10045	0.0:0.3668:0.3379:0.2953	.	224;204	Q9NU63-3;Q9NU63-2	.;.	I	224;204;204	ENSP00000418259:M224I;ENSP00000366078:M204I;ENSP00000366080:M204I	ENSP00000366078:M204I	M	-	3	0	ZFP57	29749195	0.000000	0.05858	0.044000	0.18714	0.048000	0.14542	-1.245000	0.02899	0.206000	0.20587	0.650000	0.86243	ATG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		5	319	0	0	0	1	0	5	319					T	29641216	C	T	29641216	1	4	14	0	1	0	0	0	0	0	0	0	17704	710	25	2		2	ZFP57	6	29641216	IGR	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		29641216	141473851	17	1645											
ITPR3	3710	broad.mit.edu	37	chr6	33639826	33639826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaatgtgcggcggtccAtccagggcgtggggcacatg	17	10	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:33639826A>G	ENST00000374316.5	+	23	3809	c.2749A>G	c.(2749-2751)Atc>Gtc	p.I917V	ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	917					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)			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)	GCGGCGGTCCATCCAGGGCGT	0.637																																						ENST00000374316.5																			0				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						c.(2749-2751)Atc>Gtc		inositol 1,4,5-trisphosphate receptor, type 3							79	72	75					6																	33639826		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.chr6:33639826A>G	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.2749A>G	6.37:g.33639826A>G	ENSP00000363435:p.Ile917Val					ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V	p.I917V			Q14573	ITPR3_HUMAN			23	3809	+			917					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2749A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012952	0.75161	.	.	ENSG00000096433	ENST00000374316	D	0.91631	-2.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.61703	1.905	0.58432	D	0.999996	P	0.39326	0.668	B	0.40228	0.323	D	0.88114	0.2827	10	0.36615	T	0.2	-37.5928	15.5417	0.76057	1.0:0.0:0.0:0.0	.	917	Q14573	ITPR3_HUMAN	V	917	ENSP00000363435:I917V	ENSP00000363435:I917V	I	+	1	0	ITPR3	33747804	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.962000	0.93254	2.072000	0.62099	0.533000	0.62120	ATC		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		24	183	0	0	0	1	0	24	183					G	33639826	A	G	33639826	3	3	14	1	0	0	0	0	1	0	0	0	7952	217	8	4	2835	4	ITPR3	6	33639826	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08	3998610	33639826	137475241	18	1646											
PPARD	5467	broad.mit.edu	37	chr6	35391924	35391924	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaagccagccacacggCggtgagtgttgctgctgctt	14	12	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:35391924C>A	ENST00000311565.4	+	7	975	c.626C>A	c.(625-627)gCg>gAg	p.A209E	PPARD_ENST00000360694.3_Splice_Site_p.A209E|PPARD_ENST00000448077.2_Splice_Site_p.A170E|PPARD_ENST00000444397.1_Splice_Site_p.A209E|PPARD_ENST00000337400.2_Splice_Site_p.A209E|PPARD_ENST00000418635.2_Splice_Site_p.A111E|PPARD_ENST00000540939.1_Splice_Site_p.A106E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	209					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGCCACACGGCGGTGAGTGTT	0.597																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e7+1		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						35	34	35					6																	35391924		2203	4300	6503	SO:0001630	splice_region_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35391924C>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.627+1C>A	6.37:g.35391924C>A						PPARD_ENST00000337400.2_Splice_Site_p.A209_splice|PPARD_ENST00000448077.2_Splice_Site_p.A170_splice|PPARD_ENST00000418635.2_Splice_Site_p.A111_splice|PPARD_ENST00000444397.1_Splice_Site_p.A209_splice|PPARD_ENST00000360694.3_Splice_Site_p.A209_splice|PPARD_ENST00000540939.1_Splice_Site_p.A106_splice	p.A209_splice	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			7	975	+			209					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Splice_Site	SNP	ENST00000311565.4	37	c.627_splice	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704184	0.68615	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.58	5.58	0.84498	Nuclear hormone receptor, ligand-binding (1);	0.359711	0.29987	N	0.010699	T	0.33673	0.0871	L	0.27053	0.805	0.58432	D	0.999995	P;P;P;P	0.39311	0.667;0.53;0.667;0.573	B;B;B;B	0.26693	0.072;0.032;0.072;0.051	T	0.43376	-0.9395	10	0.10377	T	0.69	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	111;170;209;209	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	E	170;209;111;209;209;209;106	ENSP00000414372:A170E;ENSP00000353916:A209E;ENSP00000413314:A111E;ENSP00000410837:A209E;ENSP00000310928:A209E;ENSP00000337063:A209E;ENSP00000443759:A106E	ENSP00000310928:A209E	A	+	2	0	PPARD	35499902	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	6.967000	0.76079	2.650000	0.89964	0.591000	0.81541	GCG		0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	Missense_Mutation	4	137	1	0	0.00909568	1	0.00920396	4	137					A	35391924	C	A	35391924	5	1	14	1	0	0	0	0	0	0	1	0	12340	782	27	3	657	3	PPARD	6	35391924	Splice_Site	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	1752098	35391924	135723143	19	1647											
TBP	6908	broad.mit.edu	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	13	13	0	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(268-270)caG>caA		TATA box binding protein							22	28	26					6																	170871094		1899	3721	5620	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871094G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.270G>A	6.37:g.170871094G>A						TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	p.Q90Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	130	0	0	0	1	0	4	130					A	170871094	G	A	170871094	2	1	14	1	0	0	0	0	0	0	0	1	15696	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	135479170	170871094	243973	20	1648											
DNAH11	8701	broad.mit.edu	37	chr7	21805150	21805150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggtttcatgcgtggccGcaggaggctctggtctccgt	15	11	3	0	rs200558824		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:21805150G>A	ENST00000409508.3	+	55	9076	c.9045G>A	c.(9043-9045)ccG>ccA	p.P3015P	DNAH11_ENST00000328843.6_Silent_p.P3022P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3022	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCGTGGCCGCAGGAGGCTC	0.532									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9064-9066)ccG>ccA		dynein, axonemal, heavy chain 11							91	92	92					7																	21805150		2053	4198	6251	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21805150G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9045G>A	7.37:g.21805150G>A						DNAH11_ENST00000409508.3_Silent_p.P3015P	p.P3022P			Q96DT5	DYH11_HUMAN			56	9097	+			3022			AAA 4 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9066G>A																																																																																					0.532	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	287	0	0	0	1	0	5	287					A	21805150	G	A	21805150	2	1	14	1	0	0	0	0	0	0	0	1	4615	1074	38	1		1	DNAH11	7	21805150	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		21805150	137333513	21	1649											
OSBPL3	26031	broad.mit.edu	37	chr7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-													atcaatgcagccatgcagctTctctctctctatctgcagag							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.5	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	408						7	408	---	---	---	---	-	24910453	TC	-	24910452	7	5	14	1	0	1	0	1	0	0	0	0	11321	1792	62	0	2459	0	OSBPL3	7	24910452	Frame_Shift_Del	DEL	TC	TCGA-2J-AABT-01A-11D-A40W-08	3105302	24910452	134228211	22	1650											
WRN	7486	broad.mit.edu	37	chr8	30999101	30999101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaatttatgaagatttgCgcccttacgaaaaaggtaaa	7	6	0	2			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:30999101C>T	ENST00000298139.5	+	25	3372	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1041					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.C1041C(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGAAGATTTGCGCCCTTACGA	0.403			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			1	Substitution - coding silent(1)	p.C1041C(1)	endometrium(1)	central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3121-3123)tgC>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							103	101	102					8																	30999101		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30999101C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3123C>T	8.37:g.30999101C>T							p.C1041C	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	25	3372	+		Breast(100;0.195)	1041					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3123C>T	CCDS6082.1																																																																																				0.403	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	470	0	0	0	1	0	5	470					T	30999101	C	T	30999101	2	4	14	1	0	0	0	0	0	0	0	1	17456	776	27	1		1	WRN	8	30999101	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		30999101	115364921	23	1651											
PLEC	5339	broad.mit.edu	37	chr8	144992109	144992109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctcaaaggctgtgccGgggcggatgatgcccttctt	15	10	2	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:144992109G>A	ENST00000322810.4	-	32	12460	c.12291C>T	c.(12289-12291)ccC>ccT	p.P4097P	PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000398774.2_Silent_p.P3928P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354589.3_Silent_p.P3960P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4097	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCTGTGCCGGGGCGGATGA	0.627																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12289-12291)ccC>ccT		plectin							28	34	32					8																	144992109		2110	4223	6333	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992109G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12291C>T	8.37:g.144992109G>A						PLEC_ENST00000398774.2_Silent_p.P3928P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000354589.3_Silent_p.P3960P	p.P4097P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12460	-			4097			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12291C>T	CCDS43772.1																																																																																				0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	113	0	0	0	1	0	12	113					A	144992109	G	A	144992109	2	1	14	1	0	0	0	0	0	0	0	1	12094	1103	39	1		1	PLEC	8	144992109	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	113993008	144992109	1371913	24	1652											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			7	182						7	182	---	---	---	---	-	102590618	CAC	-	102590616	7	5	14	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-2J-AABT-01A-11D-A40W-08		102590616	38622815	25	1653											
ARMC3	219681	broad.mit.edu	37	chr10	23297251	23297251	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagatgttggttatggaCgaagtatttcttcttcatct	8	6	5	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:23297251C>T	ENST00000298032.5	+	15	1960	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	626			R -> Q (in dbSNP:rs10828395). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGTTATGGACGAAGTATTTC	0.279																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1876-1878)Cga>Tga		armadillo repeat containing 3							35	32	33					10																	23297251		2191	4269	6460	SO:0001587	stop_gained	219681						binding	g.chr10:23297251C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1876C>T	10.37:g.23297251C>T	ENSP00000298032:p.Arg626*					ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626*	p.R626*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			15	1960	+			626		R -> Q (in dbSNP:rs10828395).			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	c.1876C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	c	37	6.353931	0.97498	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	.	.	.	5.56	3.7	0.42460	.	1.341930	0.04522	N	0.384715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-12.0527	7.0747	0.25197	0.1702:0.7422:0.0:0.0875	.	.	.	.	X	626;626;626;363	.	ENSP00000298032:R626X	R	+	1	2	ARMC3	23337257	0.922000	0.31269	0.988000	0.46212	0.855000	0.48748	0.118000	0.15605	0.688000	0.31529	0.563000	0.77884	CGA		0.279	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		8	135	0	0	0	1	0	8	135					T	23297251	C	T	23297251	4	4	14	1	0	0	0	0	0	1	0	0	953	528	19	1	1930	1	ARMC3	10	23297251	Nonsense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		23297251	112237496	26	1654											
FOXI2	399823	broad.mit.edu	37	chr10	129536020	129536020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgctcaacgactgcttcaaGaaggtgccccgcgacgagga	12	13	2	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:129536020G>C	ENST00000388920.4	+	1	522	c.483G>C	c.(481-483)aaG>aaC	p.K161N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				ACTGCTTCAAGAAGGTGCCCC	0.662																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(481-483)aaG>aaC		forkhead box I2							36	39	38					10																	129536020		692	1591	2283	SO:0001583	missense	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.chr10:129536020G>C	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.483G>C	10.37:g.129536020G>C	ENSP00000373572:p.Lys161Asn						p.K161N	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			1	522	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	161						Missense_Mutation	SNP	ENST00000388920.4	37	c.483G>C	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973821	0.74246	.	.	ENSG00000186766	ENST00000388920	D	0.95482	-3.72	4.14	3.24	0.37175	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.95775	0.8812	10	0.72032	D	0.01	.	10.503	0.44817	0.0964:0.0:0.9036:0.0	.	161	Q6ZQN5	FOXI2_HUMAN	N	161	ENSP00000373572:K161N	ENSP00000373572:K161N	K	+	3	2	FOXI2	129426010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.971000	0.29396	0.954000	0.37851	0.462000	0.41574	AAG		0.662	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		15	56	0	0	0	1	0	15	56					C	129536020	G	C	129536020	3	2	14	1	0	0	0	0	1	0	0	0	6037	933	33	5	485	5	FOXI2	10	129536020	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	106238769	129536020	5998727	27	1655											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106041	135106041	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcccctgtagatccacttCtccagaacctcgaagtaggg	9	13	1	2			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:135106041C>T	ENST00000252936.3	-	7	1215	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000368563.2_Silent_p.E392E|TUBGCP2_ENST00000417178.2_Silent_p.E262E|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Silent_p.E420E			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	392					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)				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)		AGATCCACTTCTCCAGAACCT	0.627																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1174-1176)gaG>gaA		tubulin, gamma complex associated protein 2							126	101	110					10																	135106041		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106041C>T	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.1176G>A	10.37:g.135106041C>T						TUBGCP2_ENST00000417178.2_Silent_p.E262E|TUBGCP2_ENST00000252936.3_Silent_p.E392E|TUBGCP2_ENST00000543663.1_Silent_p.E420E	p.E392E	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1532	-		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)	392					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1176G>A	CCDS7676.1																																																																																				0.627	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			24	160	0	0	0	1	0	24	160					T	135106041	C	T	135106041	2	4	14	1	0	0	0	0	0	0	0	1	16820	912	32	2		2	TUBGCP2	10	135106041	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	5570021	135106041	428706	28	1656											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	325						8	325	---	---	---	---	-	30034031	TGG	-	30034029	7	5	14	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-2J-AABT-01A-11D-A40W-08		30034029	104972487	29	1657											
EHF	26298	broad.mit.edu	37	chr11	34667997	34667997	+	Frame_Shift_Del	DEL	T	T	-													gttttgcagtttccagtgggTtttttggaggccagtggcat							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:34667997delT	ENST00000533754.1	+	3	326	c.109delT	c.(109-111)tttfs	p.F38fs	EHF_ENST00000527935.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000530286.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000531794.1_Frame_Shift_Del_p.F60fs|EHF_ENST00000257831.3_Frame_Shift_Del_p.F38fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.F38fs|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000531728.1_Frame_Shift_Del_p.F38fs					ets homologous factor									p.F38fs*51(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTCCAGTGGGTTTTTTGGAGG	0.537																																						ENST00000257831.3																		NFIA/EHF(2)	1	Deletion - Frameshift(1)	p.F38fs*51(1)	lung(1)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(109-111)ttfs		ets homologous factor							128	115	119					11																	34667997		2202	4298	6500	SO:0001589	frameshift_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34667997delT	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.109delT	11.37:g.34667997delT	ENSP00000435837:p.Phe38fs					EHF_ENST00000531794.1_Frame_Shift_Del_p.F60fs|EHF_ENST00000530286.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000527935.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000531728.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000533754.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.F38fs|EHF_ENST00000527001.1_3'UTR	p.F38fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	230	+		all_hematologic(20;0.117)	38			PNT.			Frame_Shift_Del	DEL	ENST00000533754.1	37	c.109delT	CCDS7894.1																																																																																				0.537	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		7	669						7	669	---	---	---	---	-	34667997	T	-	34667997	7	5	14	1	0	1	0	1	0	0	0	0	4997	1725	60	0	115	0	EHF	11	34667997	Frame_Shift_Del	DEL	T	TCGA-2J-AABT-01A-11D-A40W-08	4633968	34667997	100338519	30	1658											
RAB38	23682	broad.mit.edu	37	chr11	87847185	87847185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagccagagcagctggCaaccttggttgatgtgagat	14	9	0	3	rs566900313	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:87847185C>A	ENST00000243662.6	-	3	689	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	203					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGCAGCTGGCAACCTTGGTT	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0031					ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(607-609)Gcc>Tcc		RAB38, member RAS oncogene family							138	129	132					11																	87847185		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847185C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.607G>T	11.37:g.87847185C>A	ENSP00000243662:p.Ala203Ser					RP11-164N3.3_ENST00000528458.1_RNA	p.A203S	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			3	689	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	203					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.607G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.224|0.224	-1.026095|-1.026095	0.02045|0.02045	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.70045|.	-0.45|.	5.47|5.47	1.27|1.27	0.21489|0.21489	.|.	0.584107|.	0.17889|.	N|.	0.158598|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.22452|0.22452	-1.0216|-1.0216	9|5	.|.	.|.	.|.	-27.5375|-27.5375	3.3463|3.3463	0.07136|0.07136	0.1416:0.5596:0.1377:0.1612|0.1416:0.5596:0.1377:0.1612	.|.	203|.	P57729|.	RAB38_HUMAN|.	S|F	203|201	ENSP00000243662:A203S|.	.|.	A|C	-|-	1|2	0|0	RAB38|RAB38	87486833|87486833	0.012000|0.012000	0.17670|0.17670	0.559000|0.559000	0.28332|0.28332	0.101000|0.101000	0.19017|0.19017	0.095000|0.095000	0.15127|0.15127	0.766000|0.766000	0.33244|0.33244	-0.157000|-0.157000	0.13467|0.13467	GCC|TGC		0.483	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			5	466	1	0	0.184627	1	0.184627	5	466					A	87847185	C	A	87847185	3	1	14	1	0	0	0	0	1	0	0	0	12978	710	25	3	32	3	RAB38	11	87847185	Missense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	53179188	87847185	47159331	31	1659											
BCL9L	283149	broad.mit.edu	37	chr11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-													caggcacttcatgctccagcGgggggccccctaggctctgt					rs147951163	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50	62	58			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	743						7	743	---	---	---	---	-	118773004	G	-	118773004	7	5	14	1	0	1	0	1	0	0	0	0	1383	1116	39	0	3063	0	BCL9L	11	118773004	Frame_Shift_Del	DEL	G	TCGA-2J-AABT-01A-11D-A40W-08	30925819	118773004	16233512	32	1660											
BCL9L	283149	broad.mit.edu	37	chr11	118773097	118773097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggccgtgggtggctgcTgggggggagggggggcttgt	27	5	0	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:118773097T>G	ENST00000334801.3	-	6	2319	c.1355A>C	c.(1354-1356)cAg>cCg	p.Q452P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	452	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGTGGCTGCTGGGGGGGAGG	0.682																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1354-1356)cAg>cCg		B-cell CLL/lymphoma 9-like							13	18	16					11																	118773097		1625	3496	5121	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773097T>G	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1355A>C	11.37:g.118773097T>G	ENSP00000335320:p.Gln452Pro					BCL9L_ENST00000526143.1_5'UTR	p.Q452P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2319	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	452			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1355A>C	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	0.926	-0.714340	0.03206	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.78364	-1.17	4.76	1.0	0.19881	.	0.570758	0.14556	N	0.312365	T	0.59348	0.2187	N	0.22421	0.69	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38457	-0.9660	10	0.16896	T	0.51	-9.3366	7.9199	0.29839	0.0:0.0858:0.5422:0.372	.	447;452	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	P	452;415;452;452	ENSP00000335320:Q452P	ENSP00000335320:Q452P	Q	-	2	0	BCL9L	118278307	0.997000	0.39634	0.711000	0.30485	0.348000	0.29142	1.645000	0.37238	0.007000	0.14760	0.254000	0.18369	CAG		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	85	0	0	0	1	0	7	85					G	118773097	T	G	118773097	3	3	14	1	0	0	0	0	1	0	0	0	1383	1580	55	4	3156	4	BCL9L	11	118773097	Missense_Mutation	SNP	T	TCGA-2J-AABT-01A-11D-A40W-08	93	118773097	16233419	33	1661											
OR6T1	219874	broad.mit.edu	37	chr11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggactgagcctctgacatacGaatgtagagaaagatggaac	12	7	1	4			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(781-783)Cgt>Tgt		olfactory receptor, family 6, subfamily T, member 1							202	171	182					11																	123813765		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813765G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.781C>T	11.37:g.123813765G>A	ENSP00000325203:p.Arg261Cys						p.R261C	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	815	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	261					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.781C>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036985	0.19669	.	.	ENSG00000181499	ENST00000321252	T	0.35789	1.29	3.39	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51160	0.1658	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36696	-0.9737	9	0.87932	D	0	-19.2553	3.5334	0.07785	0.3556:0.1954:0.449:0.0	.	261	Q8NGN1	OR6T1_HUMAN	C	261	ENSP00000325203:R261C	ENSP00000325203:R261C	R	-	1	0	OR6T1	123318975	0.000000	0.05858	0.006000	0.13384	0.169000	0.22640	-0.190000	0.09615	-0.114000	0.11936	0.563000	0.77884	CGT		0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		16	419	0	0	0	1	0	16	419					A	123813765	G	A	123813765	3	1	14	1	0	0	0	0	1	0	0	0	11252	1058	37	1	193	1	OR6T1	11	123813765	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	5040668	123813765	11192751	34	1662											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		24	172	0	0	0	1	0	24	172					G	25398285	C	G	25398285	3	3	14	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		25398285	108453610	35	1663											
IKZF4	64375	broad.mit.edu	37	chr12	56420631	56420631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctggggccagatgagcGgctcctggaaaaggacgaca	15	10	0	2			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:56420631G>A	ENST00000262032.5	+	8	720	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q|IKZF4_ENST00000548601.1_3'UTR|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	118					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAGATGAGCGGCTCCTGGAA	0.572																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(352-354)cGg>cAg		IKAROS family zinc finger 4 (Eos)							48	53	52					12																	56420631		2123	4243	6366	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56420631G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.353G>A	12.37:g.56420631G>A	ENSP00000262032:p.Arg118Gln					IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q	p.R118Q			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	720	+			118					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.353G>A	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513158	0.96402	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.08282	3.13;3.14;3.13;3.11	5.08	5.08	0.68730	.	0.000000	0.44688	D	0.000438	T	0.18635	0.0447	L	0.42245	1.32	0.58432	D	0.999998	P;D;P;D	0.76494	0.893;0.998;0.787;0.999	B;P;B;P	0.59761	0.148;0.863;0.103;0.733	T	0.00675	-1.1615	10	0.32370	T	0.25	-10.7923	17.3946	0.87441	0.0:0.0:1.0:0.0	.	16;73;77;118	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	118;16;118;73	ENSP00000262032:R118Q;ENSP00000412101:R16Q;ENSP00000448419:R118Q;ENSP00000450020:R73Q	ENSP00000262032:R118Q	R	+	2	0	IKZF4	54706898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.478000	0.73596	2.633000	0.89246	0.561000	0.74099	CGG		0.572	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		7	178	0	0	0	1	0	7	178					A	56420631	G	A	56420631	3	1	14	1	0	0	0	0	1	0	0	0	7647	1116	39	1	367	1	IKZF4	12	56420631	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	31022346	56420631	77431264	36	1664											
SRGAP1	57522	broad.mit.edu	37	chr12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagggcgcttcacatccGcaaactcctcctgactttgc	9	14	1	2	rs201404379		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 1		G	HIS/ARG	0,4406		0,0,2203	150	131	137		1850	4.3	1	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	p.R617H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2374	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	504	0	0	0	1	0	6	504					A	64502748	G	A	64502748	3	1	14	1	0	0	0	0	1	0	0	0	15197	1087	38	1	1912	1	SRGAP1	12	64502748	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	8082117	64502748	69349147	37	1665											
LTA4H	4048	broad.mit.edu	37	chr12	96412615	96412615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatggtggcaggaccaAtaggtcatactgtccccata	12	9	1	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:96412615A>C	ENST00000228740.2	-	8	919	c.778T>G	c.(778-780)Ttg>Gtg	p.L260V	LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V|LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	260					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GGCAGGACCAATAGGTCATAC	0.403																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(778-780)Ttg>Gtg		leukotriene A4 hydrolase							82	75	77					12																	96412615		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412615A>C	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.778T>G	12.37:g.96412615A>C	ENSP00000228740:p.Leu260Val					LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V|LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V	p.L260V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			8	919	-			260					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.778T>G	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966327	0.53507	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.01933	4.55;4.55;4.55	5.29	-2.74	0.05932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.49571	1.57	0.41510	D	0.988339	P;P;P	0.51933	0.788;0.949;0.935	P;P;P	0.50617	0.514;0.514;0.646	T	0.16512	-1.0400	10	0.33940	T	0.23	-11.7535	14.3716	0.66843	0.4175:0.0:0.5825:0.0	.	236;236;260	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	V	260;236;236	ENSP00000228740:L260V;ENSP00000449958:L236V;ENSP00000395051:L236V	ENSP00000228740:L260V	L	-	1	2	LTA4H	94936746	0.650000	0.27331	0.030000	0.17652	0.921000	0.55340	1.115000	0.31209	-0.393000	0.07739	-0.353000	0.07706	TTG		0.403	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		32	217	0	0	0	1	0	32	217					C	96412615	A	C	96412615	3	2	14	1	0	0	0	0	1	0	0	0	9107	98	4	4	1105	4	LTA4H	12	96412615	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08	31909867	96412615	37439280	38	1666											
RIMBP2	23504	broad.mit.edu	37	chr12	130923012	130923012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagacccggatggtggcGggggtcaccccagcctggac	17	13	1	1	rs144010117	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:130923012G>A	ENST00000261655.4	-	9	1666	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	RIMBP2_ENST00000535703.1_Silent_p.P409P|RIMBP2_ENST00000536002.1_Silent_p.P409P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	501	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		GGATGGTGGCGGGGGTCACCC	0.662																																						ENST00000261655.4																			0				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						c.(1501-1503)ccC>ccT		RIMS binding protein 2		G		1,4403	2.1+/-5.4	0,1,2201	32	30	31		1503	-10	0	12	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RIMBP2	NM_015347.4		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		501/1053	130923012	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130923012G>A	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.1503C>T	12.37:g.130923012G>A						RIMBP2_ENST00000536002.1_Silent_p.P409P|RIMBP2_ENST00000535703.1_Silent_p.P409P	p.P501P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	1666	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	501			Fibronectin type-III 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1503C>T	CCDS31925.1																																																																																				0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		11	75	0	0	0	1	0	11	75					A	130923012	G	A	130923012	2	1	14	1	0	0	0	0	0	0	0	1	13413	1103	39	1		1	RIMBP2	12	130923012	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	34510397	130923012	2928883	39	1667											
TPTE2	93492	broad.mit.edu	37	chr13	19999089	19999089	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttctattatattcatacctGttattttgaataaaagacgt	4	5	2	2			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr13:19999089G>C	ENST00000400230.2	-	19	1508	c.1464C>G	c.(1462-1464)aaC>aaG	p.N488K	TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K|TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	488	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)			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)		ATTCATACCTGTTATTTTGAA	0.284																																						ENST00000400230.2																			0				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						c.(1462-1464)aaC>aaG		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50	50	50					13																	19999089		2156	4285	6441	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.chr13:19999089G>C	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.1464C>G	13.37:g.19999089G>C	ENSP00000383089:p.Asn488Lys					TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K	p.N488K			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)	19	1508	-		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)	488			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1464C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	4.566	0.105142	0.08731	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.17	1.31	0.21738	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174919	0.48286	U	0.000185	T	0.80065	0.4555	L	0.52266	1.64	0.38754	D	0.954181	B;B;B	0.32324	0.117;0.216;0.364	B;B;B	0.39465	0.145;0.155;0.3	T	0.72001	-0.4422	9	.	.	.	-8.723	6.8494	0.24006	0.1572:0.0:0.8428:0.0	.	377;411;488	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	448;377;488;411;411;488;448;377	ENSP00000372438:N448K;ENSP00000382974:N377K;ENSP00000383089:N488K;ENSP00000255310:N411K;ENSP00000375098:N411K;ENSP00000372437:N488K;ENSP00000372435:N448K;ENSP00000442218:N377K	.	N	-	3	2	TPTE2	18897089	1.000000	0.71417	0.646000	0.29493	0.352000	0.29268	4.366000	0.59492	0.469000	0.27268	0.194000	0.17425	AAC		0.284	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	84	0	0	0	1	0	9	84					C	19999089	G	C	19999089	3	2	14	1	0	0	0	0	1	0	0	0	16484	1368	48	5	112	5	TPTE2	13	19999089	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		19999089	95170789	40	1668											
AKAP6	9472	broad.mit.edu	37	chr14	33292241	33292241	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcatgattgttaatgtctCttgcacctctgcttgcactg	8	11	2	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr14:33292241C>T	ENST00000280979.4	+	13	5392	c.5222C>T	c.(5221-5223)tCt>tTt	p.S1741F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1741					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)			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)		GTTAATGTCTCTTGCACCTCT	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(5221-5223)tCt>tTt		A kinase (PRKA) anchor protein 6							185	154	165					14																	33292241		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292241C>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.5222C>T	14.37:g.33292241C>T	ENSP00000280979:p.Ser1741Phe					AKAP6_ENST00000557272.1_Intron	p.S1741F	NM_004274.4	NP_004265.3	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	5392	+	Breast(36;0.0388)|Prostate(35;0.15)		1741					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5222C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528551	0.64860	.	.	ENSG00000151320	ENST00000280979	T	0.14516	2.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.11060	-1.0603	10	0.87932	D	0	-9.7292	19.6071	0.95585	0.0:1.0:0.0:0.0	.	1741	Q13023	AKAP6_HUMAN	F	1741	ENSP00000280979:S1741F	ENSP00000280979:S1741F	S	+	2	0	AKAP6	32361992	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.062000	0.76706	2.728000	0.93425	0.650000	0.86243	TCT		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		52	364	0	0	0	1	0	52	364					T	33292241	C	T	33292241	3	4	14	1	0	0	0	0	1	0	0	0	455	913	32	2	5268	2	AKAP6	14	33292241	Missense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		33292241	74057299	41	1669											
PRC1	9055	broad.mit.edu	37	chr15	91517846	91517846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctctctctttctccaatCgatgcatctcccattgttct	5	14	5	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr15:91517846C>T	ENST00000361188.5	-	10	2530	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	Y_RNA_ENST00000363272.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTCTCCAATCGATGCATCTC	0.443																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1318-1320)cGa>cAa		protein regulator of cytokinesis 1							372	335	347					15																	91517846		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517846C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1319G>A	15.37:g.91517846C>T	ENSP00000354679:p.Arg440Gln					PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q	p.R440Q			O43663	PRC1_HUMAN			10	2530	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		440			Spectrin-fold.			Missense_Mutation	SNP	ENST00000361188.5	37	c.1319G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792465	0.50102	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.64	2.79	0.32731	.	0.323197	0.33477	N	0.004866	T	0.23766	0.0575	L	0.33485	1.01	0.32416	N	0.550029	B;B;B;B	0.20887	0.009;0.009;0.006;0.049	B;B;B;B	0.18561	0.007;0.007;0.022;0.013	T	0.17623	-1.0363	10	0.30854	T	0.27	.	7.2242	0.26005	0.0:0.5634:0.0:0.4366	.	399;440;410;440	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	440;440;440;43;399	ENSP00000377793:R440Q;ENSP00000354618:R440Q;ENSP00000354679:R440Q;ENSP00000409549:R399Q	ENSP00000354679:R440Q	R	-	2	0	PRC1	89318850	0.010000	0.17322	0.163000	0.22734	0.980000	0.70556	0.194000	0.17135	0.495000	0.27882	0.650000	0.86243	CGA		0.443	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		15	736	0	0	0	1	0	15	736					T	91517846	C	T	91517846	3	4	14	1	0	0	0	0	1	0	0	0	12493	884	31	1	567	1	PRC1	15	91517846	Missense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		91517846	11013546	42	1670											
ADCY9	115	broad.mit.edu	37	chr16	4016226	4016226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgctcacctggatgcgGcactccacgccggtggtgtc	12	15	2	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:4016226G>A	ENST00000294016.3	-	11	4150	c.3612C>T	c.(3610-3612)tgC>tgT	p.C1204C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1204					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTGGATGCGGCACTCCACGC	0.602																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3610-3612)tgC>tgT		adenylate cyclase 9							152	132	139					16																	4016226		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016226G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3612C>T	16.37:g.4016226G>A							p.C1204C	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4150	-			1204					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3612C>T	CCDS32382.1																																																																																				0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	450	0	0	0	1	0	7	450					A	4016226	G	A	4016226	2	1	14	1	0	0	0	0	0	0	0	1	301	1195	42	2		2	ADCY9	16	4016226	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		4016226	86338527	43	1671											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	499						8	499	---	---	---	---	-	15729984	CCA	-	15729982	7	5	14	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-2J-AABT-01A-11D-A40W-08	11713756	15729982	74624771	44	1672											
TEPP	374739	broad.mit.edu	37	chr16	58011728	58011728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccccagctatggcccGcatcattgacctggtgccct	9	18	1	1	rs200723974		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:58011728G>A	ENST00000441824.2	+	2	210	c.173G>A	c.(172-174)cGc>cAc	p.R58H	TEPP_ENST00000290871.5_Missense_Mutation_p.R58H|TEPP_ENST00000569996.1_Intron	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	58						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GCTATGGCCCGCATCATTGAC	0.632																																						ENST00000290871.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						c.(172-174)cGc>cAc		testis, prostate and placenta expressed		G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	129	118	122		173,173	0.1	1	16		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TEPP	NM_199456.2,NM_199046.2	29,29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	58/272,58/299	58011728	2,12994	2198	4300	6498	SO:0001583	missense	374739					extracellular region		g.chr16:58011728G>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.173G>A	16.37:g.58011728G>A	ENSP00000401917:p.Arg58His					TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R58H	p.R58H	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN			2	210	+			58					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.173G>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789990	0.31685	0.0	2.33E-4	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.54675	0.56;0.58	4.43	0.0534	0.14306	.	0.914461	0.09148	N	0.842023	T	0.39489	0.1080	L	0.47716	1.5	0.23095	N	0.998305	B;B	0.34255	0.219;0.445	B;B	0.25140	0.034;0.058	T	0.25606	-1.0127	10	0.59425	D	0.04	-19.4532	6.6328	0.22867	0.4258:0.0:0.5742:0.0	.	58;58	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	H	58	ENSP00000290871:R58H;ENSP00000401917:R58H	ENSP00000290871:R58H	R	+	2	0	TEPP	56569229	0.877000	0.30153	0.992000	0.48379	0.595000	0.36748	0.152000	0.16302	0.069000	0.16605	-0.466000	0.05196	CGC		0.632	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		6	696	0	0	0	1	0	6	696					A	58011728	G	A	58011728	3	1	14	1	0	0	0	0	1	0	0	0	15812	1087	38	1	179	1	TEPP	16	58011728	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	42281746	58011728	32343025	45	1673											
VAT1L	57687	broad.mit.edu	37	chr16	77910292	77910292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaaggtgtggacatcGttttggattgcctctgtggg	15	7	1	1	rs200966564		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:77910292G>A	ENST00000302536.2	+	5	901	c.748G>A	c.(748-750)Gtt>Att	p.V250I	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	250							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGTGGACATCGTTTTGGATTG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19110	0.0		0.0	False		,,,				2504	0.0					ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(748-750)Gtt>Att		vesicle amine transport 1-like							214	191	199					16																	77910292		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77910292G>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.748G>A	16.37:g.77910292G>A	ENSP00000303129:p.Val250Ile					VAT1L_ENST00000563850.1_3'UTR	p.V250I	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			5	901	+			250					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.748G>A	CCDS32492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.508695	0.85282	.	.	ENSG00000171724	ENST00000302536	T	0.33865	1.39	5.4	5.4	0.78164	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.48986	1.54	0.80722	D	1	P	0.52170	0.951	B	0.40134	0.32	T	0.25257	-1.0137	10	0.02654	T	1	-20.162	19.1297	0.93400	0.0:0.0:1.0:0.0	.	250	Q9HCJ6	VAT1L_HUMAN	I	250	ENSP00000303129:V250I	ENSP00000303129:V250I	V	+	1	0	VAT1L	76467793	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	9.407000	0.97325	2.675000	0.91044	0.655000	0.94253	GTT		0.473	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		9	496	0	0	0	1	0	9	496					A	77910292	G	A	77910292	3	1	14	1	0	0	0	0	1	0	0	0	17184	1145	40	1	766	1	VAT1L	16	77910292	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	19898564	77910292	12444461	46	1674											
SLC43A2	124935	broad.mit.edu	37	chr17	1489346	1489346	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggtgtagaggccaaCtgtggaggaaggcgctgcgt	19	6	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:1489346C>T	ENST00000301335.5	-	10	1167		c.e10-1		SLC43A2_ENST00000412517.3_Splice_Site|SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000382147.4_Missense_Mutation_p.V364I	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TAGAGGCCAACTGTGGAGGAA	0.642																																						ENST00000382147.4																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1090-1092)Gtt>Att		solute carrier family 43 (amino acid system L transporter), member 2							20	14	16					17																	1489346		2201	4294	6495	SO:0001630	splice_region_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1489346C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1079-1G>A	17.37:g.1489346C>T						SLC43A2_ENST00000412517.3_Splice_Site|SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000301335.4_Splice_Site	p.V364I			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	10	1178	-			360					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1090G>A	CCDS11006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160652|4.160652	0.78226|0.78226	.|.	.|.	ENSG00000167703|ENSG00000167703	ENST00000301335;ENST00000412517|ENST00000382147	.|T	.|0.80480	.|-1.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87748	.|0.6255	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86025	.|0.1509	.|6	.|.	.|.	.|.	.|.	19.2052|19.2052	0.93728|0.93728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|364	.|ENSP00000371582:V364I	.|.	.|V	-|-	.|1	.|0	SLC43A2|SLC43A2	1436096|1436096	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.628000|0.628000	0.37860|0.37860	7.776000|7.776000	0.85560|0.85560	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	.|GTT		0.642	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346	Intron	3	13	0	0	0	1	0	3	13					T	1489346	C	T	1489346	5	4	14	1	0	0	0	0	0	0	1	0	14683	579	20	2	651	2	SLC43A2	17	1489346	Splice_Site	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08		1489346	79705864	47	1675											
TP53	7157	broad.mit.edu	37	chr17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-													ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:7578213delA	ENST00000269305.4	-	6	825	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)	CACTATGTCGAAAAGTGTTTC	0.532		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)	ENST00000420246.2		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"		36	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(2)	p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|stomach(1)|soft_tissue(1)|liver(1)|lung(1)|breast(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	GRCh37	CD011205	TP53	D		c.(634-636)ttfs	Other conserved DNA damage response genes	tumor protein p53							134	120	125					17																	7578213		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578213delA	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.636delT	17.37:g.7578213delA	ENSP00000269305:p.Phe212fs	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_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs	p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.636delT	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	160						31	160	---	---	---	---	-	7578213	A	-	7578213	7	5	14	1	0	1	0	1	0	0	0	0	16434	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-2J-AABT-01A-11D-A40W-08	6088867	7578213	73616997	48	1676											
TMEM132E	124842	broad.mit.edu	37	chr17	32953994	32953994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccggcccctcaagcccGgggaagtgctcagcatcctc	11	17	2	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:32953994G>A	ENST00000321639.5	+	3	974	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	216						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCAAGCCCGGGGAAGTGCT	0.652																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(646-648)Ggg>Agg		transmembrane protein 132E							63	61	62					17																	32953994		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32953994G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.646G>A	17.37:g.32953994G>A	ENSP00000316532:p.Gly216Arg						p.G216R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	3	974	+			216					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.646G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961826	0.74016	.	.	ENSG00000181291	ENST00000321639	T	0.24908	1.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.64404	1.975	0.58432	D	0.999995	D	0.54772	0.968	B	0.42798	0.398	T	0.10753	-1.0616	10	0.42905	T	0.14	-38.6309	18.0519	0.89351	0.0:0.0:1.0:0.0	.	216	Q6IEE7	T132E_HUMAN	R	216	ENSP00000316532:G216R	ENSP00000316532:G216R	G	+	1	0	TMEM132E	29978107	1.000000	0.71417	0.925000	0.36789	0.992000	0.81027	7.804000	0.85993	2.484000	0.83849	0.442000	0.29010	GGG		0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		40	272	0	0	0	1	0	40	272					A	32953994	G	A	32953994	3	1	14	1	0	0	0	0	1	0	0	0	16100	1116	39	1	656	1	TMEM132E	17	32953994	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	25375781	32953994	48241216	49	1677											
RNF213	57674	broad.mit.edu	37	chr17	78321495	78321495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcactcaaccagtactaCgtccacctcggcggccagaa	9	16	1	1	rs142096377		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:78321495C>T	ENST00000582970.1	+	29	9503	c.9360C>T	c.(9358-9360)taC>taT	p.Y3120Y	RNF213_ENST00000336301.6_Silent_p.Y1193Y|RNF213_ENST00000508628.2_Silent_p.Y3169Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3120					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCAGTACTACGTCCACCTCG	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9358-9360)taC>taT		ring finger protein 213		C		0,4406		0,0,2203	79	79	79		9507	-0.7	1	17	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3169/5257	78321495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321495C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9360C>T	17.37:g.78321495C>T						RNF213_ENST00000336301.6_Silent_p.Y1193Y|RNF213_ENST00000508628.2_Silent_p.Y3169Y	p.Y3120Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9503	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.9360C>T	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		38	286	0	0	0	1	0	38	286					T	78321495	C	T	78321495	2	4	14	1	0	0	0	0	0	0	0	1	13527	547	19	1		1	RNF213	17	78321495	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	45367501	78321495	2873715	50	1678											
GRIN3B	116444	broad.mit.edu	37	chr19	1003526	1003527	+	Frame_Shift_Del	DEL	CA	CA	-													cctgcccaccgcggggctgcCaccagggctgctggcgctgg							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:1003526_1003527delCA	ENST00000234389.3	+	2	843_844	c.824_825delCA	c.(823-825)ccafs	p.P276fs	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	276					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGGGGCTGCCACCAGGGCTGC	0.748																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(823-825)cfs		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001589	frameshift_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1003526_1003527delCA		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.824_825delCA	19.37:g.1003526_1003527delCA	ENSP00000234389:p.Pro276fs						p.P276fs	NM_138690.1	NP_619635.1	O60391	NMD3B_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	843_844	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	276					Q5EAK7|Q7RTW9	Frame_Shift_Del	DEL	ENST00000234389.3	37	c.824_825delCA	CCDS32861.1																																																																																				0.748	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			2	4						2	4	---	---	---	---	-	1003527	CA	-	1003526	7	5	14	1	0	1	0	1	0	0	0	0	6814	594	21	0	830	0	GRIN3B	19	1003526	Frame_Shift_Del	DEL	CA	TCGA-2J-AABT-01A-11D-A40W-08		1003526	58125457	51	1679											
SNAPC2	6618	broad.mit.edu	37	chr19	7986996	7986996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgcaggcccgtggaaAgcctttgctcctgagcgccc	12	17	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:7986996A>G	ENST00000221573.6	+	4	500	c.449A>G	c.(448-450)aAg>aGg	p.K150R	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR|CTD-3193O13.1_ENST00000564226.1_RNA	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	150					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GCCCGTGGAAAGCCTTTGCTC	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(448-450)aAg>aGg		small nuclear RNA activating complex, polypeptide 2, 45kDa							96	108	104					19																	7986996		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986996A>G	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.449A>G	19.37:g.7986996A>G	ENSP00000221573:p.Lys150Arg					SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	p.K150R	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	500	+			150					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.449A>G	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	a	10.51	1.370689	0.24771	.	.	ENSG00000104976	ENST00000221573	T	0.56275	0.47	4.33	-0.489	0.12052	.	0.299670	0.24150	N	0.041085	T	0.35885	0.0947	L	0.37561	1.115	0.09310	N	1	B	0.25235	0.121	B	0.26416	0.069	T	0.17992	-1.0351	10	0.29301	T	0.29	-17.8988	7.2806	0.26310	0.5075:0.0:0.4925:0.0	.	150	Q13487	SNPC2_HUMAN	R	150	ENSP00000221573:K150R	ENSP00000221573:K150R	K	+	2	0	SNAPC2	7892996	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.711000	0.25764	-0.049000	0.13379	0.449000	0.29647	AAG		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		59	520	0	0	0	1	0	59	520					G	7986996	A	G	7986996	3	3	14	1	0	0	0	0	1	0	0	0	14885	72	3	4	463	4	SNAPC2	19	7986996	Missense_Mutation	SNP	A	TCGA-2J-AABT-01A-11D-A40W-08	6983470	7986996	51141987	52	1680											
MUC16	94025	broad.mit.edu	37	chr19	9047851	9047851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatgagatatttgtaaaCggctcaccagtggagacagt	10	8	1	2	rs149660691	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:9047851C>T	ENST00000397910.4	-	5	33983	c.33780G>A	c.(33778-33780)ccG>ccA	p.P11260P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATTTGTAAACGGCTCACCAG	0.478													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22685	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				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						c.(33778-33780)ccG>ccA		mucin 16, cell surface associated				0,3880		0,0,1940	66	59	61		33780	0.8	0	19	dbSNP_134	61	1,8291		0,1,4145	no	coding-synonymous	MUC16	NM_024690.2		0,1,6085	TT,TC,CC		0.0121,0.0,0.0082		11260/14508	9047851	1,12171	1940	4146	6086	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047851C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33780G>A	19.37:g.9047851C>T							p.P11260P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33983	-			11262			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.33780G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	125	0	0	0	1	0	6	125					T	9047851	C	T	9047851	2	4	14	1	0	0	0	0	0	0	0	1	10014	523	19	1		1	MUC16	19	9047851	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	1060855	9047851	50081132	53	1681											
ZNF426	79088	broad.mit.edu	37	chr19	9639110	9639110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgactgtaagctttcccGcattgctgacatttataggg	11	8	0	2	rs375817888		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:9639110G>A	ENST00000535489.1	-	6	1947	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	ZNF426_ENST00000253115.2_Silent_p.C537C|ZNF426_ENST00000593003.1_Silent_p.C499C			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AAGCTTTCCCGCATTGCTGAC	0.408																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1495-1497)tgC>tgT		zinc finger protein 426							125	109	115					19																	9639110		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639110G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1611C>T	19.37:g.9639110G>A						ZNF426_ENST00000535489.1_Silent_p.C537C|ZNF426_ENST00000253115.2_Silent_p.C537C	p.C499C			Q9BUY5	ZN426_HUMAN			6	1974	-			537					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.1497C>T	CCDS12215.1																																																																																				0.408	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		5	363	0	0	0	1	0	5	363					A	9639110	G	A	9639110	2	1	14	1	0	0	0	0	0	0	0	1	17953	1079	38	1		1	ZNF426	19	9639110	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	591259	9639110	49489873	54	1682											
FCAR	2204	broad.mit.edu	37	chr19	55396764	55396765	+	Frame_Shift_Ins	INS	-	-	A													ctgacccagctgatgatcatINSaaaaaactccacgtaccgag					rs144393831	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:55396764_55396765insA	ENST00000355524.3	+	3	198_199	c.188_189insA	c.(187-192)ataaaafs	p.IK63fs	FCAR_ENST00000391723.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.IK63fs|FCAR_ENST00000359272.4_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000391724.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Frame_Shift_Ins_p.IK63fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.IK63fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	63	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTGATGATCATAAAAAACTCCA	0.475																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(187-189)aaafs		Fc fragment of IgA, receptor for																																				SO:0001589	frameshift_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396764_55396765insA	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.194dupA	19.37:g.55396770_55396770dupA	ENSP00000347714:p.Ile63fs					FCAR_ENST00000345937.4_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391724.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000391726.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000359272.4_Frame_Shift_Ins_p.K51fs	p.K63fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	198_199	+			63			Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Frame_Shift_Ins	INS	ENST00000355524.3	37	c.188_189insA	CCDS12907.1																																																																																				0.475	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		35	257						35	257	---	---	---	---	A	55396765	-	A	55396764	7	5	14	1	0	1	1	0	0	0	0	0	5798	1406	49	0	198	0	FCAR	19	55396764	Frame_Shift_Ins	INS	-	TCGA-2J-AABT-01A-11D-A40W-08	45757654	55396764	3732219	55	1683											
NLRP9	338321	broad.mit.edu	37	chr19	56244155	56244155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctctagcctctgttTcacacaagtacagaccaacc	4	17	3	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:56244155T>C	ENST00000332836.2	-	2	1069	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	348	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		AGCCTCTGTTTCACACAAGTA	0.418																																						ENST00000332836.2																			0				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						c.(1042-1044)Aaa>Gaa		NLR family, pyrin domain containing 9							108	104	106					19																	56244155		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244155T>C	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.1042A>G	19.37:g.56244155T>C	ENSP00000331857:p.Lys348Glu						p.K348E	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1069	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	348			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1042A>G	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363034	0.41902	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83837	-1.77	2.56	2.56	0.30785	.	.	.	.	.	D	0.88055	0.6334	M	0.67569	2.06	0.09310	N	1	D	0.71674	0.998	D	0.68765	0.96	T	0.76688	-0.2867	9	0.72032	D	0.01	.	9.0339	0.36275	0.0:0.0:0.0:1.0	.	348	Q7RTR0	NALP9_HUMAN	E	348	ENSP00000331857:K348E	ENSP00000331857:K348E	K	-	1	0	NLRP9	60935967	0.298000	0.24417	0.006000	0.13384	0.010000	0.07245	0.754000	0.26390	1.464000	0.47987	0.524000	0.50904	AAA		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		53	449	0	0	0	1	0	53	449					C	56244155	T	C	56244155	3	2	14	1	0	0	0	0	1	0	0	0	10526	1792	62	4	1965	4	NLRP9	19	56244155	Missense_Mutation	SNP	T	TCGA-2J-AABT-01A-11D-A40W-08	847391	56244155	2884828	56	1684											
FOXS1	2307	broad.mit.edu	37	chr20	30432939	30432939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggtcctggctggtcGccctgaggggtccacggcgt	16	14	0	1	rs370481154		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr20:30432939G>A	ENST00000375978.3	-	1	481	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	136					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGGCTGGTCGCCCTGAGGGG	0.706																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(406-408)gCg>gTg		forkhead box S1		G	VAL/ALA	0,4400		0,0,2200	13	14	14		407	-4.2	0	20		14	1,8583		0,1,4291	no	missense	FOXS1	NM_004118.3	64	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	benign	136/331	30432939	1,12983	2200	4292	6492	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432939G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.407C>T	20.37:g.30432939G>A	ENSP00000365145:p.Ala136Val						p.A136V	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	481	-			136					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.407C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874061	0.17395	0.0	1.16E-4	ENSG00000179772	ENST00000375978	D	0.93604	-3.25	4.47	-4.25	0.03766	.	0.753342	0.11194	N	0.589598	T	0.80874	0.4707	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.67221	-0.5725	10	0.39692	T	0.17	.	0.731	0.00957	0.2316:0.2146:0.3362:0.2176	.	136	O43638	FOXS1_HUMAN	V	136	ENSP00000365145:A136V	ENSP00000365145:A136V	A	-	2	0	FOXS1	29896600	0.000000	0.05858	0.011000	0.14972	0.101000	0.19017	-0.227000	0.09126	-0.497000	0.06641	0.455000	0.32223	GCG		0.706	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		11	71	0	0	0	1	0	11	71					A	30432939	G	A	30432939	3	1	14	1	0	0	0	0	1	0	0	0	6062	1087	38	1	589	1	FOXS1	20	30432939	Missense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		30432939	32592581	57	1685											
USP25	29761	broad.mit.edu	37	chr21	17205843	17205843	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagcgtctcagaaattgagaGagtcagagacttctgtgaca	11	7	3	5			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr21:17205843G>T	ENST00000285679.6	+	17	2539	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*|USP25_ENST00000285681.2_Nonsense_Mutation_p.E724*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	724					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAATTGAGAGAGTCAGAGAC	0.333																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2170-2172)Gag>Tag		ubiquitin specific peptidase 25							44	46	45					21																	17205843		2203	4300	6503	SO:0001587	stop_gained	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17205843G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2170G>T	21.37:g.17205843G>T	ENSP00000285679:p.Glu724*					USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.E724*	p.E724*			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	17	2539	+			724					C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	37	c.2170G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.346853	0.98228	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	.	.	.	5.24	5.24	0.73138	.	0.358668	0.31134	N	0.008185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.7667	0.69646	0.0:0.1443:0.8557:0.0	.	.	.	.	X	724	.	ENSP00000285679:E724X	E	+	1	0	USP25	16127714	1.000000	0.71417	0.570000	0.28473	0.835000	0.47333	2.944000	0.49034	2.615000	0.88500	0.591000	0.81541	GAG		0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			28	167	1	0	1.39806e-14	1	1.48543e-14	28	167					T	17205843	G	T	17205843	4	4	14	1	0	0	0	0	0	1	0	0	17110	943	33	3	2236	3	USP25	21	17205843	Nonsense_Mutation	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		17205843	30924052	58	1686											
COL6A2	1292	broad.mit.edu	37	chr21	47549168	47549168	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacggaagaggggccGgacgccaccttccccaggac	13	17	0	1			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr21:47549168G>A	ENST00000300527.4	+	28	2565				COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000357838.4_Silent_p.P840P|COL6A2_ENST00000409416.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAGGGGCCGGACGCCACCT	0.677																																						ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2518-2520)ccG>ccA		collagen, type VI, alpha 2							79	80	80					21																	47549168		2203	4299	6502	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549168G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2700G>A	21.37:g.47549168G>A						COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron	p.P840P	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2602	+	Breast(49;0.245)		577			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2520G>A	CCDS13728.1																																																																																				0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			40	467	0	0	0	1	0	40	467					A	47549168	G	A	47549168	1	1	14	0	1	0	0	0	0	0	0	0	3709	1103	39	1		1	COL6A2	21	47549168	Intron	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08	30343325	47549168	580727	59	1687											
EWSR1	2130	broad.mit.edu	37	chr22	29694812	29694813	+	Frame_Shift_Ins	INS	-	-	G													cttccctccaagaggaccccINSggggttcccgagggaacccc							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:29694812_29694813insG	ENST00000397938.2	+	14	1826_1827	c.1507_1508insG	c.(1507-1509)cggfs	p.R503fs	EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.R502fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.R508fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.R465fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.R430fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.R447fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	503	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R503Q(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAGGACCCCGGGGTTCCCGA	0.604			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R503Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1507-1509)gggfs		EWS RNA-binding protein 1																																				SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29694812_29694813insG		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1511dupG	22.37:g.29694816_29694816dupG	ENSP00000381031:p.Arg503fs					EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs	p.G503fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			14	1826_1827	+			503			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Ins	INS	ENST00000397938.2	37	c.1507_1508insG	CCDS13851.1																																																																																				0.604	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		7	502						7	502	---	---	---	---	G	29694813	-	G	29694812	7	5	14	1	0	1	1	0	0	0	0	0	5314	643	23	0	1678	0	EWSR1	22	29694812	Frame_Shift_Ins	INS	-	TCGA-2J-AABT-01A-11D-A40W-08		29694812	21609754	60	1688											
TRIOBP	11078	broad.mit.edu	37	chr22	38130478	38130478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccccctcatccttggagtCctgagaagagacctgaggga	12	12	1	3			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130478C>T	ENST00000406386.3	+	9	4390	c.4135C>T	c.(4135-4137)Cct>Tct	p.P1379S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1379					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTTGGAGTCCTGAGAAGAG	0.652																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4135-4137)Cct>Tct		TRIO and F-actin binding protein							28	32	31					22																	38130478		1924	4120	6044	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130478C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4135C>T	22.37:g.38130478C>T	ENSP00000384312:p.Pro1379Ser					RP1-37E16.12_ENST00000455236.1_RNA	p.P1379S	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4390	+	Melanoma(58;0.0574)		1379					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4135C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366733	0.24771	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29397	1.57	5.36	2.07	0.26955	.	.	.	.	.	T	0.19327	0.0464	N	0.24115	0.695	0.21325	N	0.999724	B	0.19706	0.038	B	0.14023	0.01	T	0.21109	-1.0255	9	0.87932	D	0	.	6.1763	0.20444	0.1476:0.6905:0.0:0.1619	.	1379	Q9H2D6	TARA_HUMAN	S	1379;1340	ENSP00000384312:P1379S	ENSP00000384312:P1379S	P	+	1	0	TRIOBP	36460424	0.104000	0.21937	0.750000	0.31169	0.005000	0.04900	0.904000	0.28491	0.625000	0.30304	0.563000	0.77884	CCT		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	79	0	0	0	1	0	6	79					T	38130478	C	T	38130478	3	4	14	1	0	0	0	0	1	0	0	0	16606	855	30	2	4161	2	TRIOBP	22	38130478	Missense_Mutation	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	8435666	38130478	13174088	61	1689											
TRIOBP	11078	broad.mit.edu	37	chr22	38130531	38130531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtccccgctgcccccCaggacatcagccaggacccc	11	20	1	0			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130531C>T	ENST00000406386.3	+	9	4443	c.4188C>T	c.(4186-4188)ccC>ccT	p.P1396P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1396					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCTGCCCCCCAGGACATCAG	0.657																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4186-4188)ccC>ccT		TRIO and F-actin binding protein							14	17	16					22																	38130531		1855	4075	5930	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130531C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4188C>T	22.37:g.38130531C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.P1396P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4443	+	Melanoma(58;0.0574)		1396					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.4188C>T	CCDS43015.1																																																																																				0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	44	0	0	0	1	0	7	44					T	38130531	C	T	38130531	2	4	14	1	0	0	0	0	0	0	0	1	16606	581	21	2		2	TRIOBP	22	38130531	Silent	SNP	C	TCGA-2J-AABT-01A-11D-A40W-08	53	38130531	13174035	62	1690											
ATRX	546	broad.mit.edu	37	chrX	76949326	76949326	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttacctccgcgttttttGagattttcagttttcatttt	5	7	2	1	rs398123424		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chrX:76949326G>T	ENST00000373344.5	-	6	685	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ATRX_ENST00000395603.3_Intron|ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(469-471)ctC>ctA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151	132	138					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76949326G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>A	X.37:g.76949326G>T						ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron	p.L157L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			6	685	-			157					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.471C>A	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	301	1	0	1.55795e-14	1	1.63488e-14	11	301					T	76949326	G	T	76949326	2	4	14	1	0	0	0	0	0	0	0	1	1209	1277	45	3		3	ATRX	23	76949326	Silent	SNP	G	TCGA-2J-AABT-01A-11D-A40W-08		76949326	78321234	63	1691											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	494						9	494	---	---	---	---	-	149639635	GCA	-	149639633	7	5	14	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2J-AABT-01A-11D-A40W-08	72690307	149639633	5630927	64	1692											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	866						7	866	---	---	---	---	-	74957826	CTT	-	74957824	6	5	15	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-2J-AABU-01A-11D-A40W-08		74957824	174292797	1	1693											
COL24A1	255631	broad.mit.edu	37	chr1	86196283	86196283	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttcgttcagttttgagAtgaggaagtttttgtacttc	9	5	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:86196283A>G	ENST00000370571.2	-	60	5457	c.5091T>C	c.(5089-5091)caT>caC	p.H1697H	COL24A1_ENST00000436319.1_Silent_p.H1676H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1697	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)			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)		CAGTTTTGAGATGAGGAAGTT	0.393																																						ENST00000370571.2																			0				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						c.(5089-5091)caT>caC		collagen, type XXIV, alpha 1							144	135	138					1																	86196283		1869	4101	5970	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86196283A>G	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.5091T>C	1.37:g.86196283A>G						COL24A1_ENST00000436319.1_Silent_p.H1676H	p.H1697H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	60	5457	-			1697			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.5091T>C	CCDS41353.1																																																																																				0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		68	183	0	0	0	1	0	68	183					G	86196283	A	G	86196283	2	3	15	1	0	0	0	0	0	0	0	1	3692	330	12	4		4	COL24A1	1	86196283	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	11238459	86196283	163054338	2	1694											
CELSR2	1952	broad.mit.edu	37	chr1	109792765	109792765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgctgctgctgctgttgCtgctgctgctgccgccgcca	13	17	0	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					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)			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)		gctgctgttgctgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(64-66)Ctg>Ttg		cadherin, EGF LAG seven-pass G-type receptor 2							9	12	11					1																	109792765		2003	3967	5970	SO:0001819	synonymous_variant	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.chr1:109792765C>T	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.64C>T	1.37:g.109792765C>T							p.L22L	NM_001408.2	NP_001399.1	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	125	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	22					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.64C>T	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	116	0	0	0	1	0	4	116					T	109792765	C	T	109792765	2	4	15	1	0	0	0	0	0	0	0	1	3231	796	28	2		2	CELSR2	1	109792765	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	23596482	109792765	139457856	3	1695											
RNF115	27246	broad.mit.edu	37	chr1	145682086	145682086	+	Frame_Shift_Del	DEL	T	T	-													attcctggatctccacacccTttttcctggtaagtaactaa							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:145682086delT	ENST00000369291.5	+	5	696	c.492delT	c.(490-492)cctfs	p.P164fs		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(490-492)ccfs		ring finger protein 115							197	190	193					1																	145682086		2203	4300	6503	SO:0001589	frameshift_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145682086delT	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.492delT	1.37:g.145682086delT	ENSP00000358297:p.Pro164fs						p.P164fs	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			5	696	+			164						Frame_Shift_Del	DEL	ENST00000369291.5	37	c.492delT	CCDS922.1																																																																																				0.363	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		7	672						7	672	---	---	---	---	-	145682086	T	-	145682086	7	5	15	1	0	1	0	1	0	0	0	0	13480	1596	56	0	510	0	RNF115	1	145682086	Frame_Shift_Del	DEL	T	TCGA-2J-AABU-01A-11D-A40W-08	35889321	145682086	103568535	4	1696											
CRNN	49860	broad.mit.edu	37	chr1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C													tgaccctgcctgtatctgagTgtgtcctcctgtcacagcct							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234	198	210					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		6	697	0	0	0	1	0	6	697					C	152382519	T	C	152382519	3	2	15	1	0	0	0	0	1	0	0	0	3901	1696	59	4	452	4	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	6700433	152382519	96868102	5	1697	13	2									
CRNN	49860	broad.mit.edu	37	chr1	152382520	152382520	+	Silent	SNP	G	G	A													gaccctgcctgtatctgagtGtgtcctcctgtcacagcctg							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1036-1038)caC>caT		cornulin							234	198	210					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	696	0	0	0	1	0	7	696					A	152382520	G	A	152382520	2	1	15	1	0	0	0	0	0	0	0	1	3901	1368	48	2		2	CRNN	1	152382520	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	1	152382520	96868101	6	1698	13	2									
BRP44	25874	broad.mit.edu	37	chr1	167893745	167893745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagacttacccatttcataAttggagcccagaagaaaact	6	10	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:167893745A>C	ENST00000367846.4	-	2	338	c.140T>G	c.(139-141)aTt>aGt	p.I47S	MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	47					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										CCATTTCATAATTGGAGCCCA	0.308																																						ENST00000367846.4																			0											c.(139-141)aTt>aGt		mitochondrial pyruvate carrier 2							20	21	21					1																	167893745		2202	4288	6490	SO:0001583	missense	25874							g.chr1:167893745A>C		CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.140T>G	1.37:g.167893745A>C	ENSP00000356820:p.Ile47Ser					MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	p.I47S	NM_015415.3	NP_056230.1					2	338	-								A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	37	c.140T>G	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990970	0.74703	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.71934	-0.61;-0.61;-0.61	5.72	5.72	0.89469	.	0.194064	0.52532	D	0.000064	T	0.49795	0.1578	L	0.42008	1.315	0.36777	D	0.884147	P;P	0.39717	0.684;0.684	B;B	0.35182	0.197;0.197	T	0.61657	-0.7018	9	0.51188	T	0.08	-5.0285	13.8186	0.63308	1.0:0.0:0.0:0.0	.	47;47	B2R4Q7;O95563	.;BR44_HUMAN	S	47	ENSP00000356820:I47S;ENSP00000271373:I47S;ENSP00000392874:I47S	ENSP00000271373:I47S	I	-	2	0	BRP44	166160369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.363000	0.79516	2.311000	0.77944	0.533000	0.62120	ATT		0.308	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415		20	78	0	0	0	1	0	20	78					C	167893745	A	C	167893745	3	2	15	1	0	0	0	0	1	0	0	0	1522	101	4	4	259	4	BRP44	1	167893745	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	15511225	167893745	81356876	7	1699											
RYR2	6262	broad.mit.edu	37	chr1	237794804	237794804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacgagactgtgatggAggtcatggtgaacgtccttg	15	7	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:237794804A>G	ENST00000366574.2	+	42	6835	c.6518A>G	c.(6517-6519)gAg>gGg	p.E2173G	RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	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)			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)			ACTGTGATGGAGGTCATGGTG	0.433																																						ENST00000366574.2																			0				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						c.(6517-6519)gAg>gGg		ryanodine receptor 2 (cardiac)							110	116	114					1																	237794804		2038	4227	6265	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.chr1:237794804A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6518A>G	1.37:g.237794804A>G	ENSP00000355533:p.Glu2173Gly					RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	p.E2173G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6835	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2173			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6518A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952183	0.92660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89485	-2.52;-2.52;-2.52	5.21	5.21	0.72293	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000005	D	0.92625	0.7657	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93114	0.6519	10	0.59425	D	0.04	-17.9264	15.3633	0.74499	1.0:0.0:0.0:0.0	.	2173	Q92736	RYR2_HUMAN	G	2173;2171;2157	ENSP00000355533:E2173G;ENSP00000353174:E2171G;ENSP00000443798:E2157G	ENSP00000353174:E2171G	E	+	2	0	RYR2	235861427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.528000	0.53228	GAG		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	149	0	0	0	1	0	4	149					G	237794804	A	G	237794804	3	3	15	1	0	0	0	0	1	0	0	0	13819	304	11	4	6684	4	RYR2	1	237794804	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	69901059	237794804	11455817	8	1700											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	7	23	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	116	0	0	0	1	0	4	116					T	240371421	C	T	240371421	2	4	15	1	0	0	0	0	0	0	0	1	5975	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	2576617	240371421	8879200	9	1701											
SMYD3	64754	broad.mit.edu	37	chr1	246078893	246078893	+	Frame_Shift_Del	DEL	T	T	-													agtactggtccctcagctgcTtccggcgctcctcactggtc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:246078893delT	ENST00000388985.4	-	8	751	c.752delA	c.(751-753)aagfs	p.K251fs	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	251					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCTCAGCTGCTTCCGGCGCTC	0.527																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(574-576)agfs		SET and MYND domain containing 3							123	100	108					1																	246078893		2203	4300	6503	SO:0001589	frameshift_variant	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078893delT	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.752delA	1.37:g.246078893delT	ENSP00000373637:p.Lys251fs					SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000388985.4_Frame_Shift_Del_p.K251fs	p.K192fs	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	791	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	251			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Frame_Shift_Del	DEL	ENST00000388985.4	37	c.575delA	CCDS53486.1																																																																																				0.527	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		104	342						104	342	---	---	---	---	-	246078893	T	-	246078893	7	5	15	1	0	1	0	1	0	0	0	0	14873	1609	56	0	554	0	SMYD3	1	246078893	Frame_Shift_Del	DEL	T	TCGA-2J-AABU-01A-11D-A40W-08	5707472	246078893	3171728	10	1702											
FAM82A1	151393	broad.mit.edu	37	chr2	38202438	38202438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctacaaacacacaagaaaaGaaacattatgctaatattgg	5	7	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:38202438G>T	ENST00000406384.1	+	4	905	c.711G>T	c.(709-711)aaG>aaT	p.K237N	RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N|RMDN2_ENST00000407257.1_Missense_Mutation_p.K415N|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	237						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K415N(1)									CACAAGAAAAGAAACATTATG	0.323																																						ENST00000407257.1																			1	Substitution - Missense(1)	p.K415N(1)	large_intestine(1)								c.(1243-1245)aaG>aaT		regulator of microtubule dynamics 2							106	106	106					2																	38202438		2203	4299	6502	SO:0001583	missense	151393							g.chr2:38202438G>T	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.711G>T	2.37:g.38202438G>T	ENSP00000386004:p.Lys237Asn					RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.K237N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N	p.K415N							4	1392	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1245G>T	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117169	0.56505	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.95	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89214	3.015	0.51012	D	0.999909	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.999;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	9.3542	0.38157	0.0997:0.0:0.9003:0.0	.	415;92;237;92	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	N	237;237;415;92;415;92	ENSP00000346549:K237N;ENSP00000386004:K237N;ENSP00000385049:K415N;ENSP00000392977:K92N;ENSP00000234195:K415N;ENSP00000416367:K92N	ENSP00000234195:K415N	K	+	3	2	FAM82A1	38055942	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.512000	0.35812	2.569000	0.86673	0.467000	0.42956	AAG		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		5	283	1	0	0.00198382	1	0.00201365	5	283					T	38202438	G	T	38202438	3	4	15	1	0	0	0	0	1	0	0	0	5655	933	33	3	1715	3	FAM82A1	2	38202438	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		38202438	204996935	11	1703											
NRXN1	9378	broad.mit.edu	37	chr2	50765572	50765572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatttgccggatatcTttgctttggccatcgatgaa	9	10	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:50765572T>G	ENST00000406316.2	-	10	3438	c.1962A>C	c.(1960-1962)aaA>aaC	p.K654N	NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N|NRXN1_ENST00000404971.1_Missense_Mutation_p.K694N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	654	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			GCCGGATATCTTTGCTTTGGC	0.498																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2080-2082)aaA>aaC		neurexin 1							249	261	257					2																	50765572		2195	4297	6492	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765572T>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1962A>C	2.37:g.50765572T>G	ENSP00000384311:p.Lys654Asn					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K654N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N	p.K694N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3421	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	654			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2082A>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381063	0.61845	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.66939	2.045	0.36502	D	0.869045	D;D;P	0.61697	0.99;0.967;0.729	P;P;B	0.62885	0.908;0.592;0.334	D	0.87073	0.2161	10	0.66056	D	0.02	.	10.8231	0.46617	0.0:0.074:0.0:0.926	.	694;654;646	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	694;654;646;654;695;646;654	ENSP00000385142:K694N;ENSP00000384311:K654N;ENSP00000434015:K646N;ENSP00000385017:K654N;ENSP00000385434:K646N;ENSP00000385681:K654N	ENSP00000385017:K654N	K	-	3	2	NRXN1	50619076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.983000	0.38602	0.477000	0.44152	AAA		0.498	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			291	1041	0	0	0	1	0	291	1041					G	50765572	T	G	50765572	3	3	15	1	0	0	0	0	1	0	0	0	10707	1606	56	4	2880	4	NRXN1	2	50765572	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	12563134	50765572	192433801	12	1704											
KIAA1841	84542	broad.mit.edu	37	chr2	61304193	61304193	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgctgggaagaggtGgacatttcagttcattgcga	14	9	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:61304193G>T	ENST00000402291.1	+	6	811	c.570G>T	c.(568-570)gtG>gtT	p.V190V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	190										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGAAGAGGTGGACATTTCAG	0.378																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(568-570)gtG>gtT		KIAA1841							106	109	108					2																	61304193		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61304193G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.570G>T	2.37:g.61304193G>T						KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V	p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	811	+			190					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.570G>T	CCDS46296.1																																																																																				0.378	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		23	651	1	0	1.77063e-15	1	1.91228e-15	23	651					T	61304193	G	T	61304193	2	4	15	1	0	0	0	0	0	0	0	1	8291	1335	47	3		3	KIAA1841	2	61304193	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	10538621	61304193	181895180	13	1705											
LRRTM4	80059	broad.mit.edu	37	chr2	77745555	77745555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacataatactcctgtaaAggggaattcatttgtctttc	6	9	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:77745555A>G	ENST00000409093.1	-	3	1776	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	LRRTM4_ENST00000409088.3_Silent_p.P480P|LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409282.1_Silent_p.P481P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	480					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCCTGTAAAGGGGAATTCA	0.473																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1438-1440)ccT>ccC		leucine rich repeat transmembrane neuronal 4							91	88	89					2																	77745555		1871	4108	5979	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745555A>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1440T>C	2.37:g.77745555A>G						LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409093.1_Silent_p.P480P|LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P	p.P480P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1854	-			480					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1440T>C	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		27	101	0	0	0	1	0	27	101					G	77745555	A	G	77745555	2	3	15	1	0	0	0	0	0	0	0	1	9080	59	3	4		4	LRRTM4	2	77745555	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	16441362	77745555	165453818	14	1706											
MRPS5	64969	broad.mit.edu	37	chr2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-													ttagttcttttgcctcttccTttttttgctccagcaccagt							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aaafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)aafs		mitochondrial ribosomal protein S5							100	103	102					2																	95775728		2203	4300	6503	SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775728delT	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.336delA	2.37:g.95775728delT	ENSP00000272418:p.Lys112fs						p.K112fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544	-			112					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	c.336delA	CCDS2010.1																																																																																				0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		7	618						7	618	---	---	---	---	-	95775728	T	-	95775728	7	5	15	1	0	1	0	1	0	0	0	0	9887	1606	56	0	992	0	MRPS5	2	95775728	Frame_Shift_Del	DEL	T	TCGA-2J-AABU-01A-11D-A40W-08	18030173	95775728	147423645	15	1707											
RANBP2	5903	broad.mit.edu	37	chr2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-													atggaggaagtgcccatgggGatgatgatgatgacggtcct							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	567						7	567	---	---	---	---	-	109380487	GAT	-	109380485	7	5	15	1	0	1	0	1	0	0	0	0	13078	1174	41	0	3568	0	RANBP2	2	109380485	In_Frame_Del	DEL	GAT	TCGA-2J-AABU-01A-11D-A40W-08	13604757	109380485	133818888	16	1708											
THSD7B	80731	broad.mit.edu	37	chr2	138163324	138163324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttggtccaagtttaCgccctgctccacgaactgtg	9	14	0	0	rs200743398	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:138163324C>T	ENST00000409968.1	+	13	2820	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	881	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				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)		TCCAAGTTTACGCCCTGCTCC	0.502													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17720	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				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						c.(2641-2643)aCg>aTg		thrombospondin, type I, domain containing 7B		C	MET/THR	0,4074		0,0,2037	71	74	73		2549	5.6	1	2		73	3,8349		0,3,4173	yes	missense	THSD7B	NM_001080427.1	81	0,3,6210	TT,TC,CC		0.0359,0.0,0.0241	probably-damaging	850/1578	138163324	3,12423	2037	4176	6213	SO:0001583	missense	80731							g.chr2:138163324C>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.2642C>T	2.37:g.138163324C>T	ENSP00000387145:p.Thr881Met					THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000543459.1_Intron	p.T881M						BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2820	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2642C>T		.	.	.	.	.	.	.	.	.	.	C	17.45	3.393937	0.62066	0.0	3.59E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.59	5.59	0.84812	.	0.105674	0.64402	D	0.000003	T	0.77003	0.4067	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.77710	-0.2486	10	0.66056	D	0.02	.	19.5832	0.95478	0.0:1.0:0.0:0.0	.	881;850	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	881;881;850	ENSP00000387145:T881M;ENSP00000272643:T881M;ENSP00000413841:T850M	ENSP00000272643:T881M	T	+	2	0	THSD7B	137879794	0.999000	0.42202	0.966000	0.40874	0.381000	0.30169	4.450000	0.60041	2.633000	0.89246	0.591000	0.81541	ACG		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		25	76	0	0	0	1	0	25	76					T	138163324	C	T	138163324	3	4	15	1	0	0	0	0	1	0	0	0	15932	536	19	1	2595	1	THSD7B	2	138163324	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	28782839	138163324	105036049	17	1709											
KIF5C	3800	broad.mit.edu	37	chr2	149854968	149854968	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaccagaagcagctgTccagactccgagacgaaatt	9	12	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:149854968T>A	ENST00000435030.1	+	19	2523	c.2155T>A	c.(2155-2157)Tcc>Acc	p.S719T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T			O60282	KIF5C_HUMAN	kinesin family member 5C	719					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGCAGCTGTCCAGACTCCG	0.572																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2155-2157)Tcc>Acc		kinesin family member 5C							22	26	25					2																	149854968		2073	4224	6297	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149854968T>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2155T>A	2.37:g.149854968T>A	ENSP00000393379:p.Ser719Thr					KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T|KIF5C_ENST00000464066.1_3'UTR	p.S719T			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	19	2523	+			719					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2155T>A		.	.	.	.	.	.	.	.	.	.	T	25.9	4.685940	0.88639	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.79845	-1.31;-1.31;-1.31	5.78	5.78	0.91487	.	0.126390	0.56097	D	0.000025	T	0.76147	0.3947	.	.	.	0.44918	D	0.997937	P	0.37233	0.588	B	0.38264	0.269	T	0.74478	-0.3652	8	.	.	.	.	16.1254	0.81392	0.0:0.0:0.0:1.0	.	719	O60282	KIF5C_HUMAN	T	719;624;622;487	ENSP00000393379:S719T;ENSP00000410115:S624T;ENSP00000380560:S487T	.	S	+	1	0	KIF5C	149563214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.204000	0.65180	2.195000	0.70347	0.528000	0.53228	TCC		0.572	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		5	22	0	0	0	1	0	5	22					A	149854968	T	A	149854968	3	1	15	1	0	0	0	0	1	0	0	0	8337	1667	58	5	2151	5	KIF5C	2	149854968	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	11691644	149854968	93344405	18	1710											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	163						7	163	---	---	---	---	-	45636545	CAG	-	45636543	7	5	15	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-2J-AABU-01A-11D-A40W-08		45636543	152385887	19	1711											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	240						7	240	---	---	---	---	-	49094316	TGC	-	49094314	7	5	15	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-2J-AABU-01A-11D-A40W-08	3457771	49094314	148928116	20	1712											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	672						7	672	---	---	---	---	-	150877786	C	-	150877786	7	5	15	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-2J-AABU-01A-11D-A40W-08	101783472	150877786	47144644	21	1713											
SLIT2	9353	broad.mit.edu	37	chr4	20618553	20618553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccagggaagagtaacGtggcatctctgcgccaggcc	14	12	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:20618553G>A	ENST00000504154.1	+	35	4120	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1290	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGAGTAACGTGGCATCTCT	0.562																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3868-3870)Gtg>Atg		slit homolog 2 (Drosophila)							44	43	43					4																	20618553		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618553G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3868G>A	4.37:g.20618553G>A	ENSP00000422591:p.Val1290Met					SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M	p.V1290M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4120	+			1290			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3868G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062304	0.55432	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.96	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.919326	0.09535	N	0.788994	T	0.60702	0.2289	N	0.25890	0.77	0.28499	N	0.914096	P;P	0.41673	0.759;0.678	B;B	0.35413	0.197;0.202	T	0.55418	-0.8144	10	0.45353	T	0.12	.	10.0633	0.42288	0.2:0.0:0.8:0.0	.	1282;1290	O94813-3;O94813	.;SLIT2_HUMAN	M	1282;1290;1303;1286;1286	ENSP00000427548:V1282M;ENSP00000422591:V1290M;ENSP00000273739:V1303M;ENSP00000422261:V1286M	ENSP00000273739:V1303M	V	+	1	0	SLIT2	20227651	0.979000	0.34478	0.997000	0.53966	0.989000	0.77384	1.895000	0.39778	2.833000	0.97629	0.650000	0.86243	GTG		0.562	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			55	168	0	0	0	1	0	55	168					A	20618553	G	A	20618553	3	1	15	1	0	0	0	0	1	0	0	0	14790	1145	40	1	4006	1	SLIT2	4	20618553	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		20618553	170535723	22	1714											
TLR6	10333	broad.mit.edu	37	chr4	38830535	38830535	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgtagactttctgtcTcattttcttttatataataa	4	5	3	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:38830535T>A	ENST00000381950.1	-	1	625	c.560A>T	c.(559-561)gAg>gTg	p.E187V	TLR6_ENST00000436693.2_Missense_Mutation_p.E187V			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	187					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTTCTGTCTCATTTTCTTT	0.318																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(559-561)gAg>gTg		toll-like receptor 6							30	33	32					4																	38830535		2193	4299	6492	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830535T>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.560A>T	4.37:g.38830535T>A	ENSP00000371376:p.Glu187Val					TLR6_ENST00000381950.1_Missense_Mutation_p.E187V	p.E187V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	679	-			187					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.560A>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	6.087	0.384310	0.11524	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.02301	4.35;4.35	5.44	1.66	0.24008	.	0.426300	0.23090	N	0.052057	T	0.03564	0.0102	M	0.77103	2.36	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33523	-0.9865	10	0.87932	D	0	.	4.5985	0.12341	0.1363:0.2183:0.0:0.6454	.	187	Q9Y2C9	TLR6_HUMAN	V	187	ENSP00000389600:E187V;ENSP00000371376:E187V	ENSP00000371376:E187V	E	-	2	0	TLR6	38506930	0.005000	0.15991	0.001000	0.08648	0.507000	0.33981	0.664000	0.25068	0.350000	0.24002	0.260000	0.18958	GAG		0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			4	166	0	0	0	1	0	4	166					A	38830535	T	A	38830535	3	1	15	1	0	0	0	0	1	0	0	0	16007	1551	54	5	1834	5	TLR6	4	38830535	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	18211982	38830535	152323741	23	1715											
ARHGAP24	83478	broad.mit.edu	37	chr4	86898803	86898803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacggtctttggtcctaataTcctgcgccccaaagtggaag	10	11	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:86898803T>C	ENST00000395184.1	+	8	1353	c.887T>C	c.(886-888)aTc>aCc	p.I296T	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	296	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGTCCTAATATCCTGCGCCCC	0.398																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(886-888)aTc>aCc		Rho GTPase activating protein 24							126	111	116					4																	86898803		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86898803T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.887T>C	4.37:g.86898803T>C	ENSP00000378611:p.Ile296Thr					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	p.I296T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	8	1353	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	296			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.887T>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852845	0.91355	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.95	5.95	0.96441	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.986;0.999	D	0.85343	0.1097	10	0.87932	D	0	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	201;203;296	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	T	296;201;211;203	ENSP00000378611:I296T;ENSP00000378610:I201T;ENSP00000425589:I211T;ENSP00000264343:I203T	ENSP00000264343:I203T	I	+	2	0	ARHGAP24	87117827	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATC		0.398	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		56	209	0	0	0	1	0	56	209					C	86898803	T	C	86898803	3	2	15	1	0	0	0	0	1	0	0	0	873	1435	50	4	1029	4	ARHGAP24	4	86898803	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	48068268	86898803	104255473	24	1716											
NFKB1	4790	broad.mit.edu	37	chr4	103517377	103517377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaacctctttgggaaAgttattgaaaccacagagca	8	8	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:103517377A>G	ENST00000505458.1	+	14	1657	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	NFKB1_ENST00000394820.4_Silent_p.K460K|NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000226574.4_Silent_p.K461K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	460	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTTTGGGAAAGTTATTGAAA	0.433																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1381-1383)aaA>aaG		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						73	75	75					4																	103517377		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103517377A>G	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1380A>G	4.37:g.103517377A>G						NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000505458.1_Silent_p.K460K|NFKB1_ENST00000394820.4_Silent_p.K460K	p.K461K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	1850	+		Hepatocellular(203;0.217)	460			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.1383A>G	CCDS54783.1																																																																																				0.433	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			59	225	0	0	0	1	0	59	225					G	103517377	A	G	103517377	2	3	15	1	0	0	0	0	0	0	0	1	10417	69	3	4		4	NFKB1	4	103517377	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	16618574	103517377	87636899	25	1717											
SCLT1	132320	broad.mit.edu	37	chr4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T													cccaggggaaaggcctccaaINSttttttttcaacagcatctt							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	390						7	390	---	---	---	---	T	129924995	-	T	129924994	7	5	15	1	0	1	1	0	0	0	0	0	13956	98	4	0	1802	0	SCLT1	4	129924994	Frame_Shift_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08	26407617	129924994	61229282	26	1718											
TMED9	54732	broad.mit.edu	37	chr5	177022351	177022351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctgcagaccctcatcctCgtggccatcggtgtctggca	10	14	3	1	rs370667269		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(640-642)ctC>ctT		transmembrane emp24 protein transport domain containing 9							80	76	77					5																	177022351		2203	4300	6503	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177022351C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.642C>T	5.37:g.177022351C>T							p.L214L	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	699	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	214					Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.642C>T	CCDS4428.1																																																																																				0.592	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		92	360	0	0	0	1	0	92	360					T	177022351	C	T	177022351	2	4	15	1	0	0	0	0	0	0	0	1	16064	871	31	1		1	TMED9	5	177022351	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		177022351	3892909	27	1719											
F13A1	2162	broad.mit.edu	37	chr6	6225029	6225029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaggccgatggggggAcgccataggcatagatattg	15	9	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:6225029A>G	ENST00000264870.3	-	7	1128	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					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)			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)	CGATGGGGGGACGCCATAGGC	0.507																																						ENST00000264870.3																			0				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						c.(862-864)gTc>gCc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110	104	106					6																	6225029		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.chr6:6225029A>G	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.863T>C	6.37:g.6225029A>G	ENSP00000264870:p.Val288Ala						p.V288A	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1128	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.863T>C	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.832090|2.832090	0.50845|0.50845	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96041	.|-3.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.93390|0.93390	0.7892|0.7892	M|M	0.62209|0.62209	1.925|1.925	0.20489|0.20489	N|N	0.999891|0.999891	.|P;P	.|0.43788	.|0.66;0.817	.|B;P	.|0.47015	.|0.23;0.534	D|D	0.89821|0.89821	0.3989|0.3989	5|10	.|0.52906	.|T	.|0.07	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	P|A	5|288;225	.|ENSP00000264870:V288A	.|ENSP00000264870:V288A	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		104	241	0	0	0	1	0	104	241					G	6225029	A	G	6225029	3	3	15	1	0	0	0	0	1	0	0	0	5358	275	10	4	1371	4	F13A1	6	6225029	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08		6225029	164890038	28	1720											
SLC35B3	51000	broad.mit.edu	37	chr6	8430252	8430252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgggttttggatggcaCagtgatagaaatatatttcc	11	4	0	2	rs550117055		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:8430252C>T	ENST00000379660.4	-	3	591	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M|SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	48					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTGGATGGCACAGTGATAGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.001		0.0	False		,,,				2504	0.0				Melanoma(83;700 1353 9357 11478 30548)	ENST00000379660.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.(142-144)Gtg>Atg		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3							180	159	166					6																	8430252		2203	4300	6503	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8430252C>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.142G>A	6.37:g.8430252C>T	ENSP00000368981:p.Val48Met					SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M|SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M	p.V48M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN			3	591	-	Ovarian(93;0.0569)		48					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.142G>A	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537066	0.45176	.	.	ENSG00000124786	ENST00000379660;ENST00000339306;ENST00000426876	T;T	0.54071	1.23;0.59	5.88	4.09	0.47781	.	0.219196	0.48286	N	0.000187	T	0.23572	0.0570	L	0.32530	0.975	0.45946	D	0.998777	P;B;B	0.51351	0.944;0.022;0.039	B;B;B	0.40825	0.341;0.014;0.014	T	0.03503	-1.1030	9	.	.	.	-9.0483	9.1897	0.37191	0.0:0.7267:0.0:0.2733	.	48;48;48	B4E2F5;Q9H1N7;B2R8V5	.;S35B3_HUMAN;.	M	48;48;114	ENSP00000368981:V48M;ENSP00000345902:V48M	.	V	-	1	0	SLC35B3	8375251	0.999000	0.42202	0.964000	0.40570	0.978000	0.69477	1.891000	0.39738	1.503000	0.48686	0.637000	0.83480	GTG		0.378	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		89	166	0	0	0	1	0	89	166					T	8430252	C	T	8430252	3	4	15	1	0	0	0	0	1	0	0	0	14627	478	17	2	1099	2	SLC35B3	6	8430252	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	2205223	8430252	162684815	29	1721											
MDC1	9656	broad.mit.edu	37	chr6	30681101	30681102	+	Frame_Shift_Ins	INS	-	-	C													caaaaggcggcccaaggccgINScccaggaccggggaatgccc					rs201979375		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:30681101_30681102insC	ENST00000376406.3	-	5	1264_1265	c.617_618insG	c.(616-618)ggcfs	p.G206fs	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Ins_p.G206fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	206	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCCCAAGGCCGCCCAGGACCGG	0.53								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(616-618)gggfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1																																				SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681101_30681102insC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.618dupG	6.37:g.30681104_30681104dupC	ENSP00000365588:p.Gly206fs					MDC1_ENST00000376405.2_Frame_Shift_Ins_p.G206fs	p.G206fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1264_1265	-			206			Interaction with the MRN complex.|Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Ins	INS	ENST00000376406.3	37	c.617_618insG	CCDS34384.1																																																																																				0.53	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		10	188						10	188	---	---	---	---	C	30681102	-	C	30681101	7	5	15	1	0	1	1	0	0	0	0	0	9444	1074	38	0	5695	0	MDC1	6	30681101	Frame_Shift_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08	22250849	30681101	140433966	30	1722											
C6orf154	221424	broad.mit.edu	37	chr6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-													cgccagcccctcctgccactTcctcctcctcctctccctca							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		8	230						8	230	---	---	---	---	-	43475291	TCC	-	43475289	7	5	15	1	0	1	0	1	0	0	0	0	2346	1783	62	0	173	0	C6orf154	6	43475289	In_Frame_Del	DEL	TCC	TCGA-2J-AABU-01A-11D-A40W-08	12794188	43475289	127639778	31	1723											
MLLT4	4301	broad.mit.edu	37	chr6	168315909	168315909	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacgctgcagagtcaatgcCgccctgaccatccagctctt	9	16	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:168315909C>A	ENST00000447894.2	+	18	2340	c.2340C>A	c.(2338-2340)gcC>gcA	p.A780A	MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000366806.2_Silent_p.A780A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000392112.1_Silent_p.A764A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	780	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGTCAATGCCGCCCTGACCA	0.537			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2338-2340)gcC>gcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							140	109	120					6																	168315909		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315909C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2340C>A	6.37:g.168315909C>A						MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000447894.2_Silent_p.A780A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000344191.4_Silent_p.A780A	p.A780A			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2482	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	780			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2340C>A																																																																																					0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	223	1	0	0.150653	1	0.150653	4	223					A	168315909	C	A	168315909	2	1	15	1	0	0	0	0	0	0	0	1	9670	639	23	3		3	MLLT4	6	168315909	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	124840620	168315909	2799158	32	1724											
IQCE	23288	broad.mit.edu	37	chr7	2617923	2617923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgatgagaacgaagctCcggcgcctggaggaggaaaa	15	9	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:2617923C>T	ENST00000402050.2	+	7	697	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000325979.7_Silent_p.L106L|IQCE_ENST00000404984.1_Silent_p.L120L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	171						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAACGAAGCTCCGGCGCCTGG	0.612																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)ctC>ctT		IQ motif containing E							65	75	72					7																	2617923		2146	4247	6393	SO:0001819	synonymous_variant	23288							g.chr7:2617923C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.513C>T	7.37:g.2617923C>T						IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000325979.7_Silent_p.L106L	p.L171L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	7	697	+		Ovarian(82;0.0112)	171					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.513C>T	CCDS43542.1																																																																																				0.612	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		64	200	0	0	0	1	0	64	200					T	2617923	C	T	2617923	2	4	15	1	0	0	0	0	0	0	0	1	7836	842	30	2		2	IQCE	7	2617923	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		2617923	156520740	33	1725											
PMS2	5395	broad.mit.edu	37	chr7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaacctgagttaggtcgGcaaactcttgaatcttagat	8	8	3	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	96					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTAGGTCGGCAAACTCTTG	0.403			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(286-288)gCc>gTc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							55	62	60					7																	6043387		1424	2456	3880	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043387G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.287C>T	7.37:g.6043387G>A	ENSP00000265849:p.Ala96Val					PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron	p.A96V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	392	-		Ovarian(82;0.0694)	96					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.287C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760290	0.49468	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.74421	-0.84;-0.84;-0.84	5.68	4.8	0.61643	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.181750	0.48767	D	0.000165	T	0.68467	0.3004	L	0.45698	1.435	0.80722	D	1	B;P;P	0.49447	0.025;0.924;0.493	B;B;B	0.40677	0.003;0.337;0.12	T	0.67229	-0.5723	10	0.27082	T	0.32	-5.7265	16.7528	0.85490	0.0:0.1292:0.8708:0.0	.	96;96;96	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	96;49;96;96	ENSP00000265849:A96V;ENSP00000371758:A96V;ENSP00000384308:A96V	ENSP00000265849:A96V	A	-	2	0	PMS2	6009913	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.309000	0.72825	1.383000	0.46405	0.484000	0.47621	GCC		0.403	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		5	255	0	0	0	1	0	5	255					A	6043387	G	A	6043387	3	1	15	1	0	0	0	0	1	0	0	0	12185	1203	42	2	2349	2	PMS2	7	6043387	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	3425464	6043387	153095276	34	1726											
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	15	11	0	1	rs146510671		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116	121	119		13,13,13	4	0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		151	408	0	0	0	1	0	151	408					T	37382282	C	T	37382282	3	4	15	1	0	0	0	0	1	0	0	0	5083	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	31338895	37382282	121756381	35	1727											
GIGYF1	64599	broad.mit.edu	37	chr7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-													tgccgccgcttctgctcctcCtgctgctgctggcggcgctt							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2140-2142)del		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100280978_100280980delCTG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2140_2142delCAG	7.37:g.100280987_100280989delCTG	ENSP00000275732:p.Gln714del						p.Q714del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3349_3351	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		714					Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.2140_2142delCAG	CCDS34708.1																																																																																				0.65	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	848						7	848	---	---	---	---	-	100280980	CTG	-	100280978	7	5	15	1	0	1	0	1	0	0	0	0	6406	680	24	0	993	0	GIGYF1	7	100280978	In_Frame_Del	DEL	CTG	TCGA-2J-AABU-01A-11D-A40W-08	62898696	100280978	58857685	36	1728											
PXDNL	137902	broad.mit.edu	37	chr8	52321490	52321490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgagctcccgtaaacGttggagccatcgatgtaggc	12	13	0	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:52321490G>A	ENST00000356297.4	-	17	2794	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	PXDNL_ENST00000543296.1_Silent_p.N898N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	898					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)			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)				TCCCGTAAACGTTGGAGCCAT	0.622																																						ENST00000356297.4																			0				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						c.(2692-2694)aaC>aaT		peroxidasin homolog (Drosophila)-like							43	48	46					8																	52321490		2017	4166	6183	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321490G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2694C>T	8.37:g.52321490G>A						PXDNL_ENST00000543296.1_Silent_p.N898N	p.N898N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2794	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	898					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2694C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159576	0.01686	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.01	-2.84	0.05751	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.51482	D	0.999926	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	4.4763	0.11745	0.6029:0.0:0.2268:0.1703	.	.	.	.	M	17	.	.	T	-	2	0	PXDNL	52484043	0.178000	0.23122	0.000000	0.03702	0.005000	0.04900	-0.180000	0.09754	-0.477000	0.06832	0.655000	0.94253	ACG		0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		74	195	0	0	0	1	0	74	195					A	52321490	G	A	52321490	2	1	15	1	0	0	0	0	0	0	0	1	12898	1136	40	1		1	PXDNL	8	52321490	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		52321490	94042532	37	1729											
LRRCC1	85444	broad.mit.edu	37	chr8	86041589	86041589	+	Frame_Shift_Del	DEL	A	A	-													attagaaaaaatggagagacAaaaaaggcagcagcaggcag							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:86041589delA	ENST00000360375.3	+	10	1750	c.1601delA	c.(1600-1602)caafs	p.Q534fs	LRRCC1_ENST00000414626.2_Frame_Shift_Del_p.Q514fs	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	534					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATGGAGAGACAAAAAAGGCAG	0.333																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1540-1542)cafs		leucine rich repeat and coiled-coil centrosomal protein 1																																				SO:0001589	frameshift_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86041589delA	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1601delA	8.37:g.86041589delA	ENSP00000353538:p.Gln534fs					LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.Q534fs	p.Q514fs			Q9C099	LRCC1_HUMAN			9	2430	+			534					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Frame_Shift_Del	DEL	ENST00000360375.3	37	c.1541delA	CCDS43750.1																																																																																				0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		7	569						7	569	---	---	---	---	-	86041589	A	-	86041589	7	5	15	1	0	1	0	1	0	0	0	0	9064	130	5	0	1639	0	LRRCC1	8	86041589	Frame_Shift_Del	DEL	A	TCGA-2J-AABU-01A-11D-A40W-08	33720099	86041589	60322433	38	1730											
FAM91A1	157769	broad.mit.edu	37	chr8	124787436	124787436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactatgaggaactgctaaaGtacagccgagatcatctcat	8	9	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787436G>C	ENST00000334705.7	+	3	453	c.207G>C	c.(205-207)aaG>aaC	p.K69N	FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	69										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACTGCTAAAGTACAGCCGAG	0.373																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(205-207)aaG>aaC		family with sequence similarity 91, member A1							103	93	96					8																	124787436		1906	4122	6028	SO:0001583	missense	157769							g.chr8:124787436G>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.207G>C	8.37:g.124787436G>C	ENSP00000335082:p.Lys69Asn					FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	p.K69N	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	453	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		69					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.207G>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232109	0.22626	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	T;T	0.45276	0.9;1.48	5.33	0.886	0.19194	.	0.000000	0.85682	U	0.000000	T	0.40347	0.1113	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.54964	0.969;0.969	P;P	0.55824	0.785;0.785	T	0.10451	-1.0629	10	0.38643	T	0.18	.	8.227	0.31575	0.5698:0.0:0.4302:0.0	.	69;69	E7ER68;Q658Y4	.;F91A1_HUMAN	N	69	ENSP00000429491:K69N;ENSP00000335082:K69N	ENSP00000335082:K69N	K	+	3	2	FAM91A1	124856617	1.000000	0.71417	0.906000	0.35671	0.595000	0.36748	2.248000	0.43160	0.215000	0.20761	-0.136000	0.14681	AAG		0.373	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		6	214	0	0	0	1	0	6	214					C	124787436	G	C	124787436	3	2	15	1	0	0	0	0	1	0	0	0	5676	1020	36	5	217	5	FAM91A1	8	124787436	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	38745847	124787436	21576586	39	1731											
FAM91A1	157769	broad.mit.edu	37	chr8	124787493	124787493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcggatattatggtgaaAggcttgaggataacaccatt	10	6	0	2	rs368811106		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787493A>G	ENST00000334705.7	+	3	510	c.264A>G	c.(262-264)aaA>aaG	p.K88K	FAM91A1_ENST00000521166.1_Silent_p.K88K	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	88										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATGGTGAAAGGCTTGAGGA	0.438																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(262-264)aaA>aaG		family with sequence similarity 91, member A1		G		0,3922		0,0,1961	135	124	127		264	1.5	1	8		127	1,8293		0,1,4146	no	coding-synonymous	FAM91A1	NM_144963.2		0,1,6107	GG,GA,AA		0.0121,0.0,0.0082		88/839	124787493	1,12215	1961	4147	6108	SO:0001819	synonymous_variant	157769							g.chr8:124787493A>G	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.264A>G	8.37:g.124787493A>G						FAM91A1_ENST00000521166.1_Silent_p.K88K	p.K88K	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	510	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		88					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.264A>G	CCDS6346.2																																																																																				0.438	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		6	289	0	0	0	1	0	6	289					G	124787493	A	G	124787493	2	3	15	1	0	0	0	0	0	0	0	1	5676	69	3	4		4	FAM91A1	8	124787493	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	57	124787493	21576529	40	1732											
DENND4C	55667	broad.mit.edu	37	chr9	19305370	19305370	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatctttccatttcagtgGcaatgcccatatattcccct	5	12	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:19305370G>A	ENST00000380432.2	+	6	657	c.624G>A	c.(622-624)tgG>tgA	p.W208*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	208	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCAGTGGCAATGCCCAT	0.328																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(622-624)tgG>tgA		DENN/MADD domain containing 4C							167	163	164					9																	19305370		2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19305370G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.624G>A	9.37:g.19305370G>A	ENSP00000369797:p.Trp208*					DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000307015.9_5'UTR	p.W208*	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			6	657	+			208			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.624G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.966709	0.97156	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5753	17.8373	0.88701	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000369802:W208X	W	+	3	0	DENND4C	19295370	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	TGG		0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	406	0	0	0	1	0	5	406					A	19305370	G	A	19305370	4	1	15	1	0	0	0	0	0	1	0	0	4451	1212	42	2	646	2	DENND4C	9	19305370	Nonsense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		19305370	121908061	41	1733											
NOL6	65083	broad.mit.edu	37	chr9	33466939	33466939	+	Frame_Shift_Del	DEL	G	G	-													gccttggataagtgcatccaGggggccccccacatagtgga							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:33466939delG	ENST00000379471.2	-	15	2008	c.1921delC	c.(1921-1923)ctgfs	p.L641fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	641					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTGCATCCAGGGGGCCCCCC	0.512											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1921-1923)tgfs		nucleolar protein 6 (RNA-associated)							206	225	218					9																	33466939		2203	4300	6503	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466939delG	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1921delC	9.37:g.33466939delG	ENSP00000368784:p.Leu641fs		OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron	p.L641fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	15	2008	-			641					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.1921delC																																																																																					0.512	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		11	2754						11	2754	---	---	---	---	-	33466939	G	-	33466939	7	5	15	1	0	1	0	1	0	0	0	0	10567	991	35	0	1567	0	NOL6	9	33466939	Frame_Shift_Del	DEL	G	TCGA-2J-AABU-01A-11D-A40W-08	14161569	33466939	107746492	42	1734											
PIGO	84720	broad.mit.edu	37	chr9	35090660	35090660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcctgccatggcacaGtaaaaggacctggaagaaaa	11	9	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35090660G>A	ENST00000378617.3	-	8	3051	c.2657C>T	c.(2656-2658)aCt>aTt	p.T886I	PIGO_ENST00000361778.2_Missense_Mutation_p.T469I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000341666.3_Missense_Mutation_p.T886I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	886				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATGGCACAGTAAAAGGACC	0.502																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2656-2658)aCt>aTt		phosphatidylinositol glycan anchor biosynthesis, class O							54	53	54					9																	35090660		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090660G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2657C>T	9.37:g.35090660G>A	ENSP00000367880:p.Thr886Ile					PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I	p.T886I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3051	-			886	PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2657C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931790	0.34096	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.5;0.49;0.49;0.5	5.18	4.29	0.51040	.	0.358601	0.29205	N	0.012826	T	0.34337	0.0894	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.16802	0.019;0.005	B;B	0.17433	0.018;0.005	T	0.14559	-1.0468	10	0.22109	T	0.4	-16.9499	12.8394	0.57793	0.078:0.0:0.922:0.0	.	469;886	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	469;886;886;469	ENSP00000298004:T469I;ENSP00000367880:T886I;ENSP00000339382:T886I;ENSP00000354678:T469I	ENSP00000298004:T469I	T	-	2	0	PIGO	35080660	0.683000	0.27633	1.000000	0.80357	0.995000	0.86356	0.434000	0.21494	1.424000	0.47217	0.655000	0.94253	ACT		0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		8	808	0	0	0	1	0	8	808					A	35090660	G	A	35090660	3	1	15	1	0	0	0	0	1	0	0	0	11936	1029	36	2	628	2	PIGO	9	35090660	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	1623721	35090660	106122771	43	1735											
PIGO	84720	broad.mit.edu	37	chr9	35091692	35091693	+	Frame_Shift_Ins	INS	-	-	G													agagaccaggacccggagacINSgggggggagcctcatctgcc					rs148341577		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35091692_35091693insG	ENST00000378617.3	-	7	2585_2586	c.2191_2192insC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACCCGGAGACGGGGGGGAGCC	0.658																																						ENST00000378617.3																			1	Deletion - Frameshift(1)	p.R731fs*17(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2191-2193)tctfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091692_35091693insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2192dupC	9.37:g.35091699_35091699dupG	ENSP00000367880:p.Arg731fs					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.S731fs	p.S731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2585_2586	-			731					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2191_2192insC	CCDS6575.1																																																																																				0.658	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		11	1493						11	1493	---	---	---	---	G	35091693	-	G	35091692	7	5	15	1	0	1	1	0	0	0	0	0	11936	536	19	0	1097	0	PIGO	9	35091692	Frame_Shift_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08	1032	35091692	106121739	44	1736											
CD72	971	broad.mit.edu	37	chr9	35612889	35612889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtggccagcttggaagacaGagtttcacattgtttttggc	12	7	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612889G>A	ENST00000396757.1	-	7	954	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.L264L			P21854	CD72_HUMAN	CD72 molecule	264	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGAAGACAGAGTTTCACAT	0.418																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(790-792)Ctg>Ttg		CD72 molecule							255	228	237					9																	35612889		2203	4300	6503	SO:0001819	synonymous_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612889G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.790C>T	9.37:g.35612889G>A						CD72_ENST00000259633.4_Silent_p.L264L|CD72_ENST00000490239.1_5'UTR	p.L264L			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	954	-			264			C-type lectin.			Silent	SNP	ENST00000396757.1	37	c.790C>T	CCDS6581.1																																																																																				0.418	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		265	8812	0	0	0	1	0	265	8812					A	35612889	G	A	35612889	2	1	15	1	0	0	0	0	0	0	0	1	3043	933	33	2		2	CD72	9	35612889	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	521197	35612889	105600542	45	1737											
CD72	971	broad.mit.edu	37	chr9	35612958	35612958	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtaaaagcagcttttctGatgcattatccatcccgacg	8	10	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612958G>A	ENST00000396757.1	-	7	885	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*			P21854	CD72_HUMAN	CD72 molecule	241	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTTTCTGATGCATTATC	0.423																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(721-723)Cag>Tag		CD72 molecule							176	158	164					9																	35612958		2203	4300	6503	SO:0001587	stop_gained	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612958G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.721C>T	9.37:g.35612958G>A	ENSP00000379980:p.Gln241*					CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*|CD72_ENST00000490239.1_5'UTR	p.Q241*			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	885	-			241			C-type lectin.			Nonsense_Mutation	SNP	ENST00000396757.1	37	c.721C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246112	0.39697	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	5.64	-8.57	0.00900	.	1.612920	0.03479	N	0.214846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.8721	5.8297	0.18574	0.1016:0.1066:0.5565:0.2353	.	.	.	.	X	241	.	ENSP00000259633:Q241X	Q	-	1	0	CD72	35602958	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.213000	0.02991	-1.115000	0.02973	-0.345000	0.07892	CAG		0.423	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		261	7718	0	0	0	1	0	261	7718					A	35612958	G	A	35612958	4	1	15	1	0	0	0	0	0	1	0	0	3043	1299	45	2	370	2	CD72	9	35612958	Nonsense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	69	35612958	105600473	46	1738											
REXO4	57109	broad.mit.edu	37	chr9	136282883	136282883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttcttgtttttcttccGagtgagcgtcttgacaggac	9	9	4	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:136282883G>A	ENST00000371942.3	-	1	281	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(82-84)Cgg>Tgg		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							79	87	84					9																	136282883		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282883G>A	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.82C>T	9.37:g.136282883G>A	ENSP00000361010:p.Arg28Trp					ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|REXO4_ENST00000478037.1_5'UTR	p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	281	-			28					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.82C>T	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861056	0.32884	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000371935;ENST00000454825	T;T	0.21543	2.0;2.07	3.93	0.308	0.15815	.	1.450310	0.04735	N	0.421779	T	0.41880	0.1178	M	0.63843	1.955	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;P	0.72075	0.976;0.891	T	0.19289	-1.0310	10	0.66056	D	0.02	-8.8689	7.0347	0.24987	0.0:0.1441:0.4354:0.4205	.	28;28	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	W	13;28;28;28	ENSP00000403272:R13W;ENSP00000361010:R28W	ENSP00000361003:R28W	R	-	1	2	REXO4	135272704	0.199000	0.23386	0.048000	0.18961	0.689000	0.40095	0.243000	0.18106	-0.230000	0.09840	0.555000	0.69702	CGG		0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			7	695	0	0	0	1	0	7	695					A	136282883	G	A	136282883	3	1	15	1	0	0	0	0	1	0	0	0	13293	1057	37	1	1218	1	REXO4	9	136282883	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	100669925	136282883	4930548	47	1739											
RBP3	5949	broad.mit.edu	37	chr10	48389752	48389752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcagacgcagcctgcaGgccggcattgagcttggtga	13	12	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:48389752G>A	ENST00000224600.4	-	1	1239	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	376	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGCCTGCAGGCCGGCATTG	0.652																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1126-1128)Ctg>Ttg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						33	36	35					10																	48389752		2201	4300	6501	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389752G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1126C>T	10.37:g.48389752G>A							p.L376L	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1239	-			376			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1126C>T	CCDS7218.1																																																																																				0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		52	186	0	0	0	1	0	52	186					A	48389752	G	A	48389752	2	1	15	1	0	0	0	0	0	0	0	1	13207	991	35	2		2	RBP3	10	48389752	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		48389752	87144995	48	1740											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	468						8	468	---	---	---	---	-	81070789	CTC	-	81070787	7	5	15	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-2J-AABU-01A-11D-A40W-08	32681035	81070787	54463960	49	1741											
SF3B2	10992	broad.mit.edu	37	chr11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactggagaactctgcagCccccaagaagaagggatttg	11	10	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:65826742C>T	ENST00000322535.6	+	11	1302	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A401V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	418					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1201-1203)gCc>gTc		splicing factor 3b, subunit 2, 145kDa							62	55	58					11																	65826742		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826742C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1253C>T	11.37:g.65826742C>T	ENSP00000318861:p.Ala418Val					SF3B2_ENST00000322535.6_Missense_Mutation_p.A418V	p.A401V			Q13435	SF3B2_HUMAN			10	1256	+			418					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1202C>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315405	0.23908	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	-0.939	0.10408	.	0.379232	0.29073	N	0.013223	T	0.23289	0.0563	L	0.27053	0.805	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	9	0.18276	T	0.48	0.0053	8.4596	0.32921	0.0:0.4852:0.0:0.5148	.	418	Q13435	SF3B2_HUMAN	V	401;418;322	.	ENSP00000318861:A418V	A	+	2	0	SF3B2	65583318	0.339000	0.24784	0.028000	0.17463	0.984000	0.73092	0.269000	0.18589	-0.516000	0.06470	0.555000	0.69702	GCC		0.532	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			26	95	0	0	0	1	0	26	95					T	65826742	C	T	65826742	3	4	15	1	0	0	0	0	1	0	0	0	14201	739	26	2	1295	2	SF3B2	11	65826742	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		65826742	69179774	50	1742											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	467						7	467	---	---	---	---	-	77069992	CAT	-	77069990	7	5	15	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2J-AABU-01A-11D-A40W-08	11243248	77069990	57936526	51	1743											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		80	145	0	0	0	1	0	80	145					G	25398285	C	G	25398285	3	3	15	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		25398285	108453610	52	1744											
KCNH3	23416	broad.mit.edu	37	chr12	49943305	49943305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttctgtaccacagccGcacgcgcgacctgcgcgact	10	18	1	0	rs201995852		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49943305G>A	ENST00000257981.6	+	9	1810	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	517					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCACAGCCGCACGCGCGAC	0.637																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1549-1551)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 3							81	70	74					12																	49943305		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943305G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1550G>A	12.37:g.49943305G>A	ENSP00000257981:p.Arg517His						p.R517H	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			9	1810	+			517					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1550G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976805	0.92982	.	.	ENSG00000135519	ENST00000257981	D	0.96802	-4.13	4.89	4.0	0.46444	Cyclic nucleotide-binding-like (1);	0.136777	0.34460	N	0.003957	D	0.93406	0.7897	M	0.65320	2	0.44073	D	0.996821	P	0.51791	0.948	B	0.36186	0.219	D	0.92864	0.6308	10	0.72032	D	0.01	.	11.3196	0.49412	0.0892:0.0:0.9108:0.0	.	517	Q9ULD8	KCNH3_HUMAN	H	517	ENSP00000257981:R517H	ENSP00000257981:R517H	R	+	2	0	KCNH3	48229572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.599000	0.74127	1.441000	0.47550	-0.140000	0.14226	CGC		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		50	84	0	0	0	1	0	50	84					A	49943305	G	A	49943305	3	1	15	1	0	0	0	0	1	0	0	0	8063	1087	38	1	1584	1	KCNH3	12	49943305	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	24545020	49943305	83908590	53	1745											
LUM	4060	broad.mit.edu	37	chr12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagcatcctctttcagccGattgtgctggagatggatga	11	9	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443																																						ENST00000266718.4																			1	Substitution - coding silent(1)	p.R170R(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(508-510)Cgg>Tgg		lumican							98	100	99					12																	91502249		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502249G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.508C>T	12.37:g.91502249G>A	ENSP00000266718:p.Arg170Trp					LUM_ENST00000548071.1_Intron	p.R170W	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	962	-			170					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.508C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841053	0.32513	.	.	ENSG00000139329	ENST00000266718	T	0.58652	0.32	5.6	5.6	0.85130	.	0.355674	0.30329	N	0.009863	T	0.64583	0.2611	L	0.49699	1.58	0.26729	N	0.970633	P	0.49090	0.919	P	0.53062	0.717	T	0.61831	-0.6982	10	0.59425	D	0.04	-14.9632	15.1305	0.72520	0.0:0.1408:0.8592:0.0	.	170	P51884	LUM_HUMAN	W	170	ENSP00000266718:R170W	ENSP00000266718:R170W	R	-	1	2	LUM	90026380	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	2.608000	0.46308	2.648000	0.89879	0.557000	0.71058	CGG		0.443	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		103	179	0	0	0	1	0	103	179					A	91502249	G	A	91502249	3	1	15	1	0	0	0	0	1	0	0	0	9123	1057	37	1	516	1	LUM	12	91502249	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	41558944	91502249	42349646	54	1746											
POLR3B	55703	broad.mit.edu	37	chr12	106820973	106820973	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacctttttttttttttttAgcttttatctcttctttttg	2	6	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:106820973A>T	ENST00000228347.4	+	13	1323		c.e13-1		POLR3B_ENST00000549195.1_Splice_Site|POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							9	10	9					12																	106820973		2166	4272	6438	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820973A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1A>T	12.37:g.106820973A>T						POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site		NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1323	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37		CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750467	0.49257	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6856	0.77409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR3B	105345103	1.000000	0.71417	0.646000	0.29493	0.887000	0.51463	8.550000	0.90675	2.176000	0.68965	0.455000	0.32223	.		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	6	40	0	0	0	1	0	6	40					T	106820973	A	T	106820973	5	4	15	1	0	0	0	0	0	0	1	0	12271	434	15	5	1150	5	POLR3B	12	106820973	Splice_Site	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	15318724	106820973	27030922	55	1747											
POTEM	641455	broad.mit.edu	37	chr14	20019852	20019852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaaagcgctgtcgtcGtagtctccccaggggcccac	11	15	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:20019852G>A	ENST00000551509.1	-	1	420	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	123										endometrium(4)|kidney(1)|lung(4)	9						CGCTGTCGTCGTAGTCTCCCC	0.597																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(367-369)taC>taT		POTE ankyrin domain family, member M							50	59	57					14																	20019852		340	1061	1401	SO:0001819	synonymous_variant	641455							g.chr14:20019852G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.369C>T	14.37:g.20019852G>A							p.Y123Y	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	420	-			123						Silent	SNP	ENST00000551509.1	37	c.369C>T	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		122	788	0	0	0	1	0	122	788					A	20019852	G	A	20019852	2	1	15	1	0	0	0	0	0	0	0	1	12310	1140	40	1		1	POTEM	14	20019852	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		20019852	87329688	56	1748											
C14orf21	161424	broad.mit.edu	37	chr14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttacaggttttacaccGcaaacttccccagttttgcg	8	12	0	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153	156	155					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			6	712	0	0	0	1	0	6	712					A	24771231	G	A	24771231	3	1	15	1	0	0	0	0	1	0	0	0	1774	1087	38	1	883	1	C14orf21	14	24771231	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	4751379	24771231	82578309	57	1749											
NYNRIN	57523	broad.mit.edu	37	chr14	24886612	24886612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgaaggcctttgccaAgagtggcaccccgctgtcct	11	13	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24886612A>G	ENST00000382554.3	+	9	5975	c.5657A>G	c.(5656-5658)aAg>aGg	p.K1886R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1886					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTTTGCCAAGAGTGGCACC	0.637																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5656-5658)aAg>aGg		NYN domain and retroviral integrase containing							12	13	13					14																	24886612		1912	4107	6019	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886612A>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5657A>G	14.37:g.24886612A>G	ENSP00000371994:p.Lys1886Arg						p.K1886R	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5975	+			1886					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5657A>G	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706588	0.48412	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	3.72	0.42706	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.22954	N	0.998512	B	0.15719	0.014	B	0.12156	0.007	T	0.28554	-1.0040	9	0.62326	D	0.03	.	7.2504	0.26146	0.8999:0.0:0.1001:0.0	.	1886	Q9P2P1	NYNRI_HUMAN	R	1886	ENSP00000371994:K1886R	ENSP00000371994:K1886R	K	+	2	0	NYNRIN	23956452	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.953000	0.56699	0.983000	0.38602	0.460000	0.39030	AAG		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	28	0	0	0	1	0	7	28					G	24886612	A	G	24886612	3	3	15	1	0	0	0	0	1	0	0	0	10838	72	3	4	5687	4	NYNRIN	14	24886612	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	115381	24886612	82462928	58	1750											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	793						7	793	---	---	---	---	-	34393993	AGC	-	34393991	7	5	15	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-2J-AABU-01A-11D-A40W-08		34393991	68137401	59	1751											
FBN1	2200	broad.mit.edu	37	chr15	48714160	48714160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactcaccaatgcaggacGtatggtgttgggtaaatccg	11	10	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:48714160G>A	ENST00000316623.5	-	61	8014	c.7559C>T	c.(7558-7560)aCg>aTg	p.T2520M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	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)			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)		AATGCAGGACGTATGGTGTTG	0.433																																						ENST00000316623.5																			0				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	GRCh37	CM074795	FBN1	M		c.(7558-7560)aCg>aTg		fibrillin 1							107	92	97					15																	48714160		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.chr15:48714160G>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.7559C>T	15.37:g.48714160G>A	ENSP00000325527:p.Thr2520Met						p.T2520M	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	61	8014	-		all_lung(180;0.00279)	2520			EGF-like 43; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7559C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480453	0.63849	.	.	ENSG00000166147	ENST00000316623	D	0.92858	-3.12	6.08	6.08	0.98989	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091594	0.85682	D	0.000000	D	0.95214	0.8448	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.93720	0.7032	10	0.40728	T	0.16	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2520	P35555	FBN1_HUMAN	M	2520	ENSP00000325527:T2520M	ENSP00000325527:T2520M	T	-	2	0	FBN1	46501452	1.000000	0.71417	0.849000	0.33467	0.618000	0.37518	5.623000	0.67757	2.894000	0.99253	0.655000	0.94253	ACG		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			48	159	0	0	0	1	0	48	159					A	48714160	G	A	48714160	3	1	15	1	0	0	0	0	1	0	0	0	5727	1145	40	1	1080	1	FBN1	15	48714160	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	14320169	48714160	53817232	60	1752											
FSD2	123722	broad.mit.edu	37	chr15	83428187	83428187	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaacagggatgcacAaattcgtgaagctgacaact	9	7	0	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:83428187A>T	ENST00000334574.8	-	13	2344	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	FSD2_ENST00000541889.1_Missense_Mutation_p.F676L|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000559366.1_RNA|RP11-752G15.6_ENST00000561107.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	721	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGGGATGCACAAATTCGTGAA	0.353																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(2161-2163)ttT>ttA		fibronectin type III and SPRY domain containing 2							69	68	68					15																	83428187		1850	4099	5949	SO:0001583	missense	123722							g.chr15:83428187A>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2163T>A	15.37:g.83428187A>T	ENSP00000335651:p.Phe721Leu					FSD2_ENST00000541889.1_Missense_Mutation_p.F676L	p.F721L			A1L4K1	FSD2_HUMAN			13	2344	-			721			B30.2/SPRY.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.2163T>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	a	7.160	0.585445	0.13749	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.12774	2.65;2.65	5.86	0.72	0.18214	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.615004	0.18017	N	0.154344	T	0.06416	0.0165	N	0.17312	0.475	0.21652	N	0.999601	B;B	0.09022	0.001;0.002	B;B	0.14578	0.008;0.011	T	0.43180	-0.9407	10	0.11485	T	0.65	-4.2398	6.5093	0.22212	0.4824:0.3813:0.1363:0.0	.	676;721	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	721;676	ENSP00000335651:F721L;ENSP00000444078:F676L	ENSP00000335651:F721L	F	-	3	2	FSD2	81225241	0.478000	0.25917	0.213000	0.23690	0.726000	0.41606	-0.045000	0.12003	0.146000	0.19002	-0.319000	0.08680	TTT		0.353	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		24	69	0	0	0	1	0	24	69					T	83428187	A	T	83428187	3	4	15	1	0	0	0	0	1	0	0	0	6098	127	5	5	90	5	FSD2	15	83428187	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	34714027	83428187	19103205	61	1753											
GTF3C1	2975	broad.mit.edu	37	chr16	27517278	27517278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaccactgttgctgtccGcacagtgggagacaaaggac	12	11	1	1	rs140459536		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:27517278G>A	ENST00000356183.4	-	10	1727	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	571					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)			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						GTTGCTGTCCGCACAGTGGGA	0.567																																						ENST00000356183.4																			0				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						c.(1711-1713)gCg>gTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa		G	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	139	115	123		1712	2.8	0	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTF3C1	NM_001520.3	64	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	571/2110	27517278	2,12992	2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27517278G>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.1712C>T	16.37:g.27517278G>A	ENSP00000348510:p.Ala571Val					GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			10	1727	-			571					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1712C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	3.660	-0.069722	0.07228	2.28E-4	1.16E-4	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22539	1.95	5.39	2.83	0.33086	.	1.419090	0.03886	N	0.277842	T	0.09379	0.0231	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21075	-1.0256	10	0.28530	T	0.3	-4.6393	5.1223	0.14867	0.7147:0.0:0.2853:0.0	.	571;571	Q12789;Q12789-3	TF3C1_HUMAN;.	V	571;569	ENSP00000348510:A571V	ENSP00000348510:A571V	A	-	2	0	GTF3C1	27424779	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.574000	0.23714	0.984000	0.38629	-0.302000	0.09304	GCG		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	458	0	0	0	1	0	5	458					A	27517278	G	A	27517278	3	1	15	1	0	0	0	0	1	0	0	0	6902	1087	38	1	4729	1	GTF3C1	16	27517278	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		27517278	62837475	62	1754											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	372						7	372	---	---	---	---	-	57731887	GGA	-	57731885	7	5	15	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-2J-AABU-01A-11D-A40W-08	30214607	57731885	32622868	63	1755											
ZZEF1	23140	broad.mit.edu	37	chr17	3917724	3917724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcactgctgctggacatgGctaactcgtcacagccctcc	9	15	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:3917724G>A	ENST00000381638.2	-	50	8355	c.8231C>T	c.(8230-8232)gCc>gTc	p.A2744V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2744							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGGACATGGCTAACTCGTC	0.483																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8230-8232)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							156	133	141					17																	3917724		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917724G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8231C>T	17.37:g.3917724G>A	ENSP00000371051:p.Ala2744Val						p.A2744V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			50	8355	-			2744					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8231C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425470	0.43020	.	.	ENSG00000074755	ENST00000381638	T	0.19938	2.11	5.17	5.17	0.71159	.	0.331247	0.33309	N	0.005051	T	0.09512	0.0234	N	0.08118	0	0.36216	D	0.851679	B	0.15473	0.013	B	0.14023	0.01	T	0.23297	-1.0192	10	0.26408	T	0.33	-9.8985	6.1894	0.20516	0.2147:0.0:0.7853:0.0	.	2744	O43149	ZZEF1_HUMAN	V	2744	ENSP00000371051:A2744V	ENSP00000371051:A2744V	A	-	2	0	ZZEF1	3864473	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	5.724000	0.68500	2.703000	0.92315	0.655000	0.94253	GCC		0.483	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	380	0	0	0	1	0	6	380					A	3917724	G	A	3917724	3	1	15	1	0	0	0	0	1	0	0	0	18308	1203	42	2	678	2	ZZEF1	17	3917724	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		3917724	77277486	64	1756											
TP53	7157	broad.mit.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	8	11	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		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)	ENST00000420246.2		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"		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(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						c.(640-642)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							127	114	119					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578208T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	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_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	773	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	72	0	0	0	1	0	52	72					C	7578208	T	C	7578208	3	2	15	1	0	0	0	0	1	0	0	0	16434	1464	51	4	653	4	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	3660484	7578208	73617002	65	1757											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183129	39183129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaatgccacagccAgttccgcaggagctgatctg	9	16	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(277-279)acT>acC		keratin associated protein 1-5							24	28	26					17																	39183129		2076	4218	6294	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183129A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G							p.T93T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	325	-		Breast(137;0.00043)	93			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.279T>C	CCDS42321.1																																																																																				0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	141	0	0	0	1	0	4	141					G	39183129	A	G	39183129	2	3	15	1	0	0	0	0	0	0	0	1	8534	175	7	4		4	KRTAP1-5	17	39183129	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	31604921	39183129	42012081	66	1758											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	11	16	0	0	rs556157666	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(136-138)gtA>gtG		keratin associated protein 4-9							15	22	20					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261778A>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G							p.V46V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	195	+			46			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.138A>G	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		12	107	0	0	0	1	0	12	107					G	39261778	A	G	39261778	2	3	15	1	0	0	0	0	0	0	0	1	8588	436	16	4		4	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	78649	39261778	41933432	67	1759											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274360	39274360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcagctggagatgcAgcatctggggcggcagcagg	18	10	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39274360A>T	ENST00000391413.2	-	1	246	c.208T>A	c.(208-210)Tgc>Agc	p.C70S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	70	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGAGATGCAGCATCTGGGG	0.667																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(208-210)Tgc>Agc		keratin associated protein 4-11							7	12	11					17																	39274360		677	1580	2257	SO:0001583	missense	653240					keratin filament		g.chr17:39274360A>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.208T>A	17.37:g.39274360A>T	ENSP00000375232:p.Cys70Ser						p.C70S	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	246	-		Breast(137;0.000496)	70		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.208T>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219303	0.39201	.	.	ENSG00000212721	ENST00000391413	T	0.02280	4.36	3.77	1.34	0.21922	.	0.000000	0.36972	U	0.002304	T	0.04770	0.0129	M	0.90252	3.1	0.23636	N	0.997233	B	0.17268	0.021	B	0.17722	0.019	T	0.23048	-1.0199	10	0.54805	T	0.06	.	4.9719	0.14119	0.7038:0.1861:0.1101:0.0	.	70	Q9BYQ6	KR411_HUMAN	S	70	ENSP00000375232:C70S	ENSP00000375232:C70S	C	-	1	0	KRTAP4-11	36527886	0.844000	0.29557	0.494000	0.27515	0.120000	0.20174	1.052000	0.30429	0.644000	0.30656	0.496000	0.49642	TGC		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	335	0	0	0	1	0	5	335					T	39274360	A	T	39274360	3	4	15	1	0	0	0	0	1	0	0	0	8580	188	7	5	383	5	KRTAP4-11	17	39274360	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	12582	39274360	41920850	68	1760											
ADAM11	4185	broad.mit.edu	37	chr17	42851860	42851860	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttccccacccccagTacggcaacatgggggcgatg	10	17	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:42851860T>C	ENST00000200557.6	+	13	1247	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCACCCCCAGTACGGCAACAT	0.632																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e13-1		ADAM metallopeptidase domain 11							40	37	38					17																	42851860		2202	4300	6502	SO:0001630	splice_region_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42851860T>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1078-1T>C	17.37:g.42851860T>C						ADAM11_ENST00000535346.1_Splice_Site_p.Y160_splice	p.Y360_splice	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			13	1247	+		Prostate(33;0.0959)	360			Peptidase M12B.		Q14808|Q14809|Q14810	Splice_Site	SNP	ENST00000200557.6	37	c.1077_splice	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812808	0.90707	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09817	2.94;2.94	5.04	5.04	0.67666	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.213347	0.41605	D	0.000843	T	0.23926	0.0579	L	0.45051	1.395	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.73708	0.98;0.981	T	0.00675	-1.1615	9	.	.	.	.	13.8849	0.63702	0.0:0.0:0.0:1.0	.	160;360	B4DKD2;O75078	.;ADA11_HUMAN	H	360;160;260	ENSP00000200557:Y360H;ENSP00000443773:Y160H	.	Y	+	1	0	ADAM11	40207386	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.862000	0.69560	2.111000	0.64477	0.379000	0.24179	TAC		0.632	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	Missense_Mutation	26	83	0	0	0	1	0	26	83					C	42851860	T	C	42851860	5	2	15	1	0	0	0	0	0	0	1	0	235	1652	57	4	1128	4	ADAM11	17	42851860	Splice_Site	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	3577500	42851860	38343350	69	1761											
TANC2	26115	broad.mit.edu	37	chr17	61345105	61345116	+	Splice_Site	DEL	TCAGCCACCAGC	TCAGCCACCAGC	-													aactaaacttttctttcttgTcagccaccagctctgcccac					rs576990196		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:61345105_61345116delTCAGCCACCAGC	ENST00000424789.2	+	7	815_823	c.811_819delTCAGCCACCAGC	c.(811-819)tcagccaccdel	p.SAT271del	TANC2_ENST00000389520.4_Splice_Site_p.SAT271del|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	271					in utero embryonic development (GO:0001701)					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						TTCTTTCTTGTCAGCCACCAGCTCTGCCCACT	0.448																																						ENST00000424789.2																			0				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						c.e7-1		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2																																				SO:0001630	splice_region_variant	26115						binding	g.chr17:61345105_61345116delTCAGCCACCAGC	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.812-1TCAGCCACCAGC>-	17.37:g.61345105_61345116delTCAGCCACCAGC						TANC2_ENST00000389520.4_Splice_Site_p.271_splice|AC037445.1_ENST00000581421.1_RNA	p.271_splice	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			7	815_823	+			271					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Splice_Site	DEL	ENST00000424789.2	37	c.811_splice	CCDS45754.1																																																																																				0.448	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		In_Frame_Del	23	162						23	162	---	---	---	---	-	61345116	TCAGCCACCAGC	-	61345105	8	5	15	1	0	1	0	1	0	0	1	0	15597	1682	58	0		0	TANC2	17	61345105	Splice_Site	DEL	TCAGCCACCAGC	TCGA-2J-AABU-01A-11D-A40W-08	18493245	61345105	19850105	70	1762											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	605						7	605	---	---	---	---	-	55992286	TCC	-	55992284	7	5	15	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-2J-AABU-01A-11D-A40W-08		55992284	22084964	71	1763											
ATP8B3	148229	broad.mit.edu	37	chr19	1785511	1785511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagggccaccacgaccGcaaaggactggtggtcgctg	14	12	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:1785511G>A	ENST00000310127.6	-	26	3588	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1127V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1117					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCACGACCGCAAAGGACTG	0.637																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3379-3381)gCg>gTg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							37	45	42					19																	1785511		2064	4182	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785511G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3350C>T	19.37:g.1785511G>A	ENSP00000311336:p.Ala1117Val					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1117V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	p.A1127V			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3613	-		Hepatocellular(1079;0.137)	1117					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3380C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777695	0.70107	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.41400	1.0;1.0;1.0	4.48	0.765	0.18470	.	0.470389	0.21414	N	0.074937	T	0.52964	0.1767	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53760	0.51;0.734	T	0.55042	-0.8202	10	0.87932	D	0	.	14.0541	0.64756	0.0:0.4546:0.5454:0.0	.	1117;1080	O60423;Q7Z485	AT8B3_HUMAN;.	V	1117;1127;1080	ENSP00000311336:A1117V;ENSP00000443574:A1127V;ENSP00000437115:A1080V	ENSP00000311336:A1117V	A	-	2	0	ATP8B3	1736511	0.992000	0.36948	0.000000	0.03702	0.063000	0.16089	6.399000	0.73248	-0.033000	0.13736	-0.175000	0.13238	GCG		0.637	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	133	0	0	0	1	0	4	133					A	1785511	G	A	1785511	3	1	15	1	0	0	0	0	1	0	0	0	1197	1087	38	1	568	1	ATP8B3	19	1785511	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		1785511	57343472	72	1764											
C19orf35	374872	broad.mit.edu	37	chr19	2278825	2278825	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagatcgcggagggAgaggcccagtggggcgtcag	20	9	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:2278825A>T	ENST00000342063.3	-	3	463	c.370T>A	c.(370-372)Tcc>Acc	p.S124T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	124										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TCGCGGAGGGAGAGGCCCAGT	0.687																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(370-372)Tcc>Acc		chromosome 19 open reading frame 35							9	10	10					19																	2278825		2181	4282	6463	SO:0001583	missense	374872							g.chr19:2278825A>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.370T>A	19.37:g.2278825A>T	ENSP00000345102:p.Ser124Thr						p.S124T	NM_198532.2	NP_940934.1	Q6ZS72	CS035_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)	3	463	-			124						Missense_Mutation	SNP	ENST00000342063.3	37	c.370T>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655242	0.14580	.	.	ENSG00000188305	ENST00000342063	T	0.14144	2.53	4.16	-0.449	0.12226	.	.	.	.	.	T	0.08179	0.0204	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.29176	0.099	T	0.37103	-0.9720	9	0.11485	T	0.65	.	4.3547	0.11172	0.4382:0.0:0.3987:0.1632	.	124	Q6ZS72	CS035_HUMAN	T	124	ENSP00000345102:S124T	ENSP00000345102:S124T	S	-	1	0	C19orf35	2229825	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.277000	0.08502	-0.538000	0.06281	0.363000	0.22086	TCC		0.687	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		6	28	0	0	0	1	0	6	28					T	2278825	A	T	2278825	3	4	15	1	0	0	0	0	1	0	0	0	1927	304	11	5	1059	5	C19orf35	19	2278825	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	493314	2278825	56850158	73	1765											
RETN	56729	broad.mit.edu	37	chr19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-													gcaggatgaaagctctctgtCtcctcctcctccctgtcctg							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	684						7	684	---	---	---	---	-	7734230	CTC	-	7734228	7	5	15	1	0	1	0	1	0	0	0	0	13286	913	32	0	18	0	RETN	19	7734228	In_Frame_Del	DEL	CTC	TCGA-2J-AABU-01A-11D-A40W-08	5455403	7734228	51394755	74	1766											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	437	0	0	0	1	0	6	437					T	12575380	C	T	12575380	2	4	15	1	0	0	0	0	0	0	0	1	18166	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	4841152	12575380	46553603	75	1767											
PRX	57716	broad.mit.edu	37	chr19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacactttcggcagctGtacctctggaagccgcacct	9	15	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587																																						ENST00000324001.7																			1	Deletion - In frame(1)	p.E545_P549delEVQLP(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1639-1641)Cag>Gag		periaxin							80	92	88					19																	40902620		2201	4297	6498	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902620G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1639C>G	19.37:g.40902620G>C	ENSP00000326018:p.Gln547Glu					PRX_ENST00000291825.7_3'UTR	p.Q547E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1909	-			547			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1639C>G	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375097	0.05034	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01821	4.62	4.14	3.07	0.35406	.	.	.	.	.	T	0.02342	0.0072	M	0.68317	2.08	0.09310	N	0.999999	B	0.14438	0.01	B	0.15484	0.013	T	0.48969	-0.8987	9	0.10111	T	0.7	-17.7457	6.247	0.20825	0.1018:0.3702:0.5279:0.0	.	547	Q9BXM0	PRAX_HUMAN	E	547	ENSP00000326018:Q547E	ENSP00000326018:Q547E	Q	-	1	0	PRX	45594460	0.000000	0.05858	0.759000	0.31340	0.312000	0.27988	0.006000	0.13152	0.905000	0.36596	0.591000	0.81541	CAG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	790	0	0	0	1	0	6	790					C	40902620	G	C	40902620	3	2	15	1	0	0	0	0	1	0	0	0	12689	1386	48	5	2750	5	PRX	19	40902620	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	28327240	40902620	18226363	76	1768											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	526						7	526	---	---	---	---	-	42753151	GAA	-	42753149	7	5	15	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-2J-AABU-01A-11D-A40W-08	1850529	42753149	16375834	77	1769											
PSG3	5671	broad.mit.edu	37	chr19	43237088	43237088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgagtcatagggaggCtctgaccattcatccaccac	10	12	3	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:43237088C>T	ENST00000327495.5	-	3	741	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	186	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.488																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(556-558)aGc>aAc		pregnancy specific beta-1-glycoprotein 3							231	230	230					19																	43237088		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237088C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.557G>A	19.37:g.43237088C>T	ENSP00000332215:p.Ser186Asn					PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	741	-		Prostate(69;0.00682)	186			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.557G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	7.246	0.602252	0.13939	.	.	ENSG00000221826	ENST00000327495	T	0.12361	2.69	1.59	-1.53	0.08611	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12774	0.0310	M	0.64567	1.98	0.09310	N	1	B;B	0.28378	0.209;0.006	B;B	0.30782	0.12;0.012	T	0.36212	-0.9757	9	0.54805	T	0.06	.	2.5923	0.04846	0.0:0.4556:0.3146:0.2298	.	164;186	Q08266;Q16557	.;PSG3_HUMAN	N	186	ENSP00000332215:S186N	ENSP00000332215:S186N	S	-	2	0	PSG3	47928928	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-0.592000	0.05747	0.021000	0.15133	0.393000	0.25936	AGC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		245	848	0	0	0	1	0	245	848					T	43237088	C	T	43237088	3	4	15	1	0	0	0	0	1	0	0	0	12703	797	28	2	745	2	PSG3	19	43237088	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	483939	43237088	15891895	78	1770											
ZFP112	7771	broad.mit.edu	37	chr19	44833545	44833545	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggcttttctatacccAgtacatggatagggcttctc	9	10	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:44833545A>C	ENST00000337401.4	-	5	871	c.783T>G	c.(781-783)acT>acG	p.T261T	ZNF112_ENST00000354340.4_Silent_p.T255T|ZNF112_ENST00000536500.1_Silent_p.T278T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	261				T -> S (in Ref. 1; AAF12816). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTATACCCAGTACATGGAT	0.433																																						ENST00000354340.4																			0											c.(763-765)acT>acG		zinc finger protein 112							106	105	105					19																	44833545		2203	4300	6503	SO:0001819	synonymous_variant	7665							g.chr19:44833545A>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.783T>G	19.37:g.44833545A>C						ZNF112_ENST00000536500.1_Silent_p.T278T|ZNF112_ENST00000337401.4_Silent_p.T261T	p.T255T	NM_013380.3	NP_037512.3					4	816	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.765T>G	CCDS54276.1																																																																																				0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		116	364	0	0	0	1	0	116	364					C	44833545	A	C	44833545	2	2	15	1	0	0	0	0	0	0	0	1	17691	175	7	4		4	ZFP112	19	44833545	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	1596457	44833545	14295438	79	1771											
PNKP	11284	broad.mit.edu	37	chr19	50365046	50365046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggcgcggctcgcggcGtctgggtttgtgttgtcgat	16	10	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:50365046G>A	ENST00000322344.3	-	14	1390	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600910.1_Intron|PNKP_ENST00000600573.1_Silent_p.D396D|PNKP_ENST00000596014.1_Silent_p.D427D|AC018766.5_ENST00000599259.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	427	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		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;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGCTCGCGGCGTCTGGGTTTG	0.687								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1279-1281)gaC>gaT	Other BER factors	polynucleotide kinase 3'-phosphatase																																				SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365046G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1281C>T	19.37:g.50365046G>A						PNKP_ENST00000600573.1_Silent_p.D396D|PNKP_ENST00000596014.1_Silent_p.D427D|PNKP_ENST00000600910.1_Intron	p.D427D	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	14	1390	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	427					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.1281C>T	CCDS12783.1																																																																																				0.687	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		6	14	0	0	0	1	0	6	14					A	50365046	G	A	50365046	2	1	15	1	0	0	0	0	0	0	0	1	12189	1136	40	1		1	PNKP	19	50365046	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	5531501	50365046	8763937	80	1772											
ZNF160	90338	broad.mit.edu	37	chr19	53572263	53572263	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcattacacttgtaAggtttctctccagtatgaat	5	11	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:53572263A>C	ENST00000429604.1	-	7	1939	c.1524T>G	c.(1522-1524)ccT>ccG	p.P508P	ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000601421.1_Silent_p.P472P|ZNF160_ENST00000599056.1_Silent_p.P508P	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	508					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TACACTTGTAAGGTTTCTCTC	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1414-1416)ccT>ccG		zinc finger protein 160							100	101	101					19																	53572263		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572263A>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1524T>G	19.37:g.53572263A>C						ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000429604.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P	p.P472P			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2292	-			508					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.1416T>G	CCDS12859.1																																																																																				0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		100	296	0	0	0	1	0	100	296					C	53572263	A	C	53572263	2	2	15	1	0	0	0	0	0	0	0	1	17792	59	3	4		4	ZNF160	19	53572263	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	3207217	53572263	5556720	81	1773											
RBCK1	10616	broad.mit.edu	37	chr20	400073	400074	+	Frame_Shift_Ins	INS	-	-	G													ccggggtcccccaggaacccINSggacgggggcagccagatgc					rs377036635		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr20:400073_400074insG	ENST00000356286.5	+	5	1248_1249	c.543_544insG	c.(544-546)ggafs	p.G182fs	RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.G140fs|RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.D66fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	182	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGGAACCCGGACGGGGGCA	0.668																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(541-546)ccgacgfs		RanBP-type and C3HC4-type zinc finger containing 1																																				SO:0001589	frameshift_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:400073_400074insG	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.545dupG	20.37:g.400075_400075dupG	ENSP00000348632:p.Gly182fs					RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.R65fs|RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.T140fs	p.T182fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			5	1248_1249	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	182			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Frame_Shift_Ins	INS	ENST00000356286.5	37	c.543_544insG	CCDS13000.2																																																																																				0.668	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		7	109						7	109	---	---	---	---	G	400074	-	G	400073	7	5	15	1	0	1	1	0	0	0	0	0	13157	639	23	0	580	0	RBCK1	20	400073	Frame_Shift_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08		400073	62625447	82	1774											
SLC5A3	6526	broad.mit.edu	37	chr21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacttatccgcaagagcGcaagctcccgggagttaatg	10	11	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89	81	84					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr					MRPS6_ENST00000399312.2_Intron	p.A402T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1716	+			402					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			5	210	0	0	0	1	0	5	210					A	35468701	G	A	35468701	3	1	15	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1206	1	SLC5A3	21	35468701	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		35468701	12661194	83	1775											
ZDHHC8	29801	broad.mit.edu	37	chr22	20132774	20132774	+	Frame_Shift_Del	DEL	C	C	-													accaccctcagctgaagactCccccaagtaagcttaatggg							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr22:20132774delC	ENST00000334554.7	+	11	2290	c.2149delC	c.(2149-2151)cccfs	p.P718fs	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P626fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	718					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCTGAAGACTCCCCCAAGTAA	0.637																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2149-2151)ccfs		zinc finger, DHHC-type containing 8							151	156	154					22																	20132774		2203	4300	6503	SO:0001589	frameshift_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132774delC	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2149delC	22.37:g.20132774delC	ENSP00000334490:p.Pro718fs					ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P626fs	p.P718fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			11	2290	+	Colorectal(54;0.0993)		718					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Del	DEL	ENST00000334554.7	37	c.2149delC	CCDS13776.1																																																																																				0.637	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		7	1154						7	1154	---	---	---	---	-	20132774	C	-	20132774	7	5	15	1	0	1	0	1	0	0	0	0	17674	855	30	0	2191	0	ZDHHC8	22	20132774	Frame_Shift_Del	DEL	C	TCGA-2J-AABU-01A-11D-A40W-08		20132774	31171792	84	1776											
ZRSR2	8233	broad.mit.edu	37	chrX	15827397	15827397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaggatcgagctaaTtgtcccttctacagtaaaac	9	8	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:15827397T>C	ENST00000307771.7	+	7	537	c.513T>C	c.(511-513)aaT>aaC	p.N171N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	171					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCGAGCTAATTGTCCCTTCT	0.383			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"F, S, Mis"	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"			L			"MDS, CLL"		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(511-513)aaT>aaC		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							123	108	113					X																	15827397		2203	4298	6501	SO:0001819	synonymous_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827397T>C	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.513T>C	X.37:g.15827397T>C							p.N171N	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			7	537	+	Hepatocellular(33;0.183)		171					Q14D69	Silent	SNP	ENST00000307771.7	37	c.513T>C	CCDS14172.1																																																																																				0.383	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		4	214	0	0	0	1	0	4	214					C	15827397	T	C	15827397	2	2	15	1	0	0	0	0	0	0	0	1	18278	1490	52	4		4	ZRSR2	23	15827397	Silent	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08		15827397	139443163	85	1777											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	767						8	767	---	---	---	---	C	107977803	-	C	107977802	7	5	15	1	0	1	1	0	0	0	0	0	7872	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08	92150405	107977802	47292758	86	1778											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	846	0	0	0	1	0	8	846					A	140994960	G	A	140994960	2	1	15	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	33017158	140994960	14275600	87	1779											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	448						10	448	---	---	---	---	-	149984526	GTG	-	149984524	7	5	15	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-2J-AABU-01A-11D-A40W-08	8989564	149984524	5286036	88	1780											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			11	321						11	321	---	---	---	---	-	154157686	T	-	154157686	7	5	15	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-2J-AABU-01A-11D-A40W-08	4173162	154157686	1112874	89	1781											
AHDC1	27245	broad.mit.edu	37	chr1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-													gttctcgggcgagggctggaAggaggaggaggaggaggagg							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3271-3276)ttc>t		AT hook, DNA binding motif, containing 1																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27875353_27875355delAGG	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del					AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron	p.SF1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4240_4242	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1091					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.3272_3274delCCT	CCDS30652.1																																																																																				0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	181						7	181	---	---	---	---	-	27875355	AGG	-	27875353	7	5	16	1	0	1	0	1	0	0	0	0	412	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-2J-AABV-01A-12D-A40W-08		27875353	221375268	1	1782											
CDC14A	8556	broad.mit.edu	37	chr1	100889836	100889837	+	Frame_Shift_Ins	INS	-	-	C													gcactcctgtctggctcaaaINSccccccctatcttccattca							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:100889836_100889837insC	ENST00000336454.3	+	5	723_724	c.368_369insC	c.(367-372)aaccccfs	p.NP123fs	CDC14A_ENST00000370125.2_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.NP65fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.NP123fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)accfs		cell division cycle 14A																																				SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889836_100889837insC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.375dupC	1.37:g.100889843_100889843dupC	ENSP00000336739:p.Asn123fs					CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T65fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000336454.3_Frame_Shift_Ins_p.T123fs	p.T123fs			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	856_857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Ins	INS	ENST00000336454.3	37	c.368_369insC	CCDS769.1																																																																																				0.401	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		8	617						8	617	---	---	---	---	C	100889837	-	C	100889836	7	5	16	1	0	1	1	0	0	0	0	0	3065	43	2	0	386	0	CDC14A	1	100889836	Frame_Shift_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	73014483	100889836	148360785	2	1783											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	610						7	610	---	---	---	---	T	110300580	-	T	110300579	7	5	16	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	9410743	110300579	138950042	3	1784											
KCNC4	3749	broad.mit.edu	37	chr1	110768613	110768613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagactctaagcagaatggCgatgccaacgcagtgctgtc	11	11	2	2	rs200511444	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110768613C>T	ENST00000369787.3	+	3	1659	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000413138.3_Silent_p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	544					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCAGAATGGCGATGCCAACG	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		18102	0.002		0.0	False		,,,				2504	0.0					ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1630-1632)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 4							61	60	61					1																	110768613		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768613C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1632C>T	1.37:g.110768613C>T						KCNC4_ENST00000413138.3_Silent_p.G544G|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000412512.2_Intron	p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1659	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	544					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1632C>T	CCDS821.1																																																																																				0.652	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		5	322	0	0	0	1	0	5	322					T	110768613	C	T	110768613	2	4	16	1	0	0	0	0	0	0	0	1	8047	755	27	1		1	KCNC4	1	110768613	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	468034	110768613	138482008	4	1785											
FLG2	388698	broad.mit.edu	37	chr1	152325720	152325720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcctgaatgtgtgtgCgagccccctgagtgcacttc	13	11	0	2	rs147635537		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514					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)			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)			AATGTGTGTGCGAGCCCCCTG	0.493																																						ENST00000388718.5																			0				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						c.(4540-4542)tcG>tcA		filaggrin family member 2		T		0,4406		0,0,2203	321	309	313		4542	-7.6	0	1	dbSNP_134	313	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1514/2392	152325720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325720C>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.4542G>A	1.37:g.152325720C>T						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1514S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4614	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1514					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4542G>A	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1294	0	0	0	1	0	9	1294					T	152325720	C	T	152325720	2	4	16	1	0	0	0	0	0	0	0	1	5948	755	27	1		1	FLG2	1	152325720	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	41557107	152325720	96924901	5	1786											
OR6K6	128371	broad.mit.edu	37	chr1	158725052	158725052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcaatggccattgaCaggtacatagctatctgcaa	9	10	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:158725052C>A	ENST00000368144.2	+	1	543	c.447C>A	c.(445-447)gaC>gaA	p.D149E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGCCATTGACAGGTACATAG	0.488																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(445-447)gaC>gaA		olfactory receptor, family 6, subfamily K, member 6							104	90	95					1																	158725052		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725052C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.447C>A	1.37:g.158725052C>A	ENSP00000357126:p.Asp149Glu						p.D149E	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	543	+	all_hematologic(112;0.0378)		149					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.447C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468380	0.63625	.	.	ENSG00000180433	ENST00000368144	T	0.17691	2.26	5.48	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.45895	0.1365	H	0.98446	4.235	0.33370	D	0.573409	D	0.89917	1.0	D	0.91635	0.999	T	0.65586	-0.6132	10	0.87932	D	0	-17.8001	8.5251	0.33300	0.0:0.8144:0.0:0.1856	.	149	Q8NGW6	OR6K6_HUMAN	E	149	ENSP00000357126:D149E	ENSP00000357126:D149E	D	+	3	2	OR6K6	156991676	0.985000	0.35326	1.000000	0.80357	0.885000	0.51271	0.581000	0.23819	1.463000	0.47967	0.655000	0.94253	GAC		0.488	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		9	302	1	0	0.00448238	1	0.00459083	9	302					A	158725052	C	A	158725052	3	1	16	1	0	0	0	0	1	0	0	0	11246	477	17	3	449	3	OR6K6	1	158725052	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	6399332	158725052	90525569	6	1787											
TNN	63923	broad.mit.edu	37	chr1	175086217	175086217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaccagggaggttccGgtggggaaggagcagagtag	21	5	0	2	rs199995910	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGTTCCGGTGGGGAAGG	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		18015	0.004		0.0	False		,,,				2504	0.0					ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2260-2262)ccG>ccA		tenascin N							91	85	87					1																	175086217		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086217G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2262G>A	1.37:g.175086217G>A							p.P754P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2375	+		Breast(1374;0.000962)	754			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2262G>A	CCDS30943.1																																																																																				0.637	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	463	0	0	0	1	0	5	463					A	175086217	G	A	175086217	2	1	16	1	0	0	0	0	0	0	0	1	16375	1103	39	1		1	TNN	1	175086217	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	16361165	175086217	74164404	7	1788											
OBSCN	84033	broad.mit.edu	37	chr1	228400270	228400270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagctgctacgtgacCggcgagcccaagcccgagac	12	17	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:228400270C>T	ENST00000422127.1	+	2	830	c.786C>T	c.(784-786)acC>acT	p.T262T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T262T|OBSCN_ENST00000570156.2_Silent_p.T262T|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	262	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACGTGACCGGCGAGCCCA	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(784-786)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39	47	44					1																	228400270		2142	4224	6366	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400270C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.786C>T	1.37:g.228400270C>T						C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.T262T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T262T	p.T262T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	860	+		Prostate(94;0.0405)	262			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.786C>T	CCDS58065.1																																																																																				0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	320	0	0	0	1	0	6	320					T	228400270	C	T	228400270	2	4	16	1	0	0	0	0	0	0	0	1	10854	639	23	1		1	OBSCN	1	228400270	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	53314053	228400270	20850351	8	1789											
RYR2	6262	broad.mit.edu	37	chr1	237632393	237632393	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatttcttcttttgcagcGgctctaattagaggaaatcg	8	8	4	1	rs566885717		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	RYR2_ENST00000360064.6_Splice_Site_p.A536A|RYR2_ENST00000542537.1_Splice_Site_p.A522A|MIR4428_ENST00000584884.1_RNA	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					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)			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)			CTTTTGCAGCGGCTCTAATTA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				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						c.e17-1		ryanodine receptor 2 (cardiac)							100	98	99					1																	237632393		1819	4080	5899	SO:0001630	splice_region_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.chr1:237632393G>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.1613-1G>A	1.37:g.237632393G>A						RYR2_ENST00000542537.1_Splice_Site_p.A522_splice|RYR2_ENST00000360064.6_Splice_Site_p.A536_splice	p.A538_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1931	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	538					Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.1612_splice	CCDS55691.1																																																																																				0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Silent	8	252	0	0	0	1	0	8	252					A	237632393	G	A	237632393	5	1	16	1	0	0	0	0	0	0	1	0	13819	1130	39	1	1680	1	RYR2	1	237632393	Splice_Site	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	9232123	237632393	11618228	9	1790											
CYP26B1	56603	broad.mit.edu	37	chr2	72359477	72359477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggaccaaggtgatgCgggggaaggtccgtgtggcc	21	8	0	1	rs368475843		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:72359477C>T	ENST00000001146.2	-	6	1621	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	473			R -> C (in dbSNP:rs61751056). {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAAGGTGATGCGGGGGAAGGT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17053	0.001		0.0	False		,,,				2504	0.0					ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1417-1419)cGc>cAc		cytochrome P450, family 26, subfamily B, polypeptide 1							46	40	42					2																	72359477		2203	4298	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359477C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1418G>A	2.37:g.72359477C>T	ENSP00000001146:p.Arg473His					CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	p.R473H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1621	-			473		R -> C.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1418G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506780	0.85282	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69306	-0.39;-0.39;-0.39	5.64	5.64	0.86602	.	0.112172	0.56097	D	0.000031	T	0.65842	0.2730	L	0.38175	1.15	0.46356	D	0.999003	P;P;P	0.51449	0.907;0.945;0.792	P;P;P	0.53954	0.631;0.738;0.631	T	0.66089	-0.6010	10	0.52906	T	0.07	-4.0647	9.1263	0.36816	0.0:0.8455:0.0:0.1545	.	398;456;473	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	H	473;282;398	ENSP00000001146:R473H;ENSP00000401465:R282H;ENSP00000443304:R398H	ENSP00000001146:R473H	R	-	2	0	CYP26B1	72212985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.746000	0.47467	2.837000	0.97791	0.655000	0.94253	CGC		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		6	61	0	0	0	1	0	6	61					T	72359477	C	T	72359477	3	4	16	1	0	0	0	0	1	0	0	0	4167	768	27	1	124	1	CYP26B1	2	72359477	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		72359477	170839896	10	1791											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038752	122038752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggctggggacgtggcaGcacacaacacatattgcagg	13	11	1	0	rs12614667		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:122038752G>A	ENST00000263707.5	-	2	255	c.158C>T	c.(157-159)gCt>gTt	p.A53V		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	53					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGACGTGGCAGCACACAACAC	0.622																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(157-159)gCt>gTt		transcription factor CP2-like 1							88	95	92					2																	122038752		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038752G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.158C>T	2.37:g.122038752G>A	ENSP00000263707:p.Ala53Val						p.A53V	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			2	255	-	Renal(3;0.01)		53					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.158C>T	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510021	0.85282	.	.	ENSG00000115112	ENST00000263707	T	0.35973	1.28	5.2	5.2	0.72013	CP2 transcription factor (1);	0.055944	0.64402	D	0.000001	T	0.63965	0.2556	M	0.92268	3.29	0.80722	D	1	P;P	0.48089	0.767;0.905	P;P	0.52823	0.67;0.71	T	0.74925	-0.3498	10	0.87932	D	0	.	18.7572	0.91837	0.0:0.0:1.0:0.0	.	53;53	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	V	53	ENSP00000263707:A53V	ENSP00000263707:A53V	A	-	2	0	TFCP2L1	121755222	1.000000	0.71417	0.937000	0.37676	0.371000	0.29859	9.869000	0.99810	2.429000	0.82318	0.655000	0.94253	GCT		0.622	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		6	574	0	0	0	1	0	6	574					A	122038752	G	A	122038752	3	1	16	1	0	0	0	0	1	0	0	0	15848	971	34	2	1337	2	TFCP2L1	2	122038752	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	49679275	122038752	121160621	11	1792											
SCN1A	6323	broad.mit.edu	37	chr2	166866301	166866301	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgagagatttgatggcTccaagttctgagtaacccaa	10	9	1	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:166866301T>A	ENST00000303395.4	-	20	3929	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000409050.1_Silent_p.G1282G|SCN1A_ENST00000423058.2_Silent_p.G1310G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1310					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)			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)	ATTTGATGGCTCCAAGTTCTG	0.378																																						ENST00000423058.2																			0				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						c.(3928-3930)ggA>ggT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						91	90	90					2																	166866301		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866301T>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.3930A>T	2.37:g.166866301T>A						SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000303395.4_Silent_p.G1310G|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.G1282G	p.G1310G	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			20	3947	-			1310					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3930A>T	CCDS54413.1																																																																																				0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	387	0	0	0	1	0	5	387					A	166866301	T	A	166866301	2	1	16	1	0	0	0	0	0	0	0	1	13964	1538	54	5		5	SCN1A	2	166866301	Silent	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	44827549	166866301	76333072	12	1793											
LRP2	4036	broad.mit.edu	37	chr2	170044544	170044544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcagagtttcatcatctcGatgcagcgcccattgtcaca	8	12	4	1	rs143637076		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3088	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I3088I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCATCATCTCGATGCAGCGCC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.001					ENST00000263816.3																			1	Substitution - coding silent(1)	p.I3088I(1)	kidney(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9262-9264)atC>atT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		2,4404	4.2+/-10.8	0,2,2201	149	121	131		9264	-11.6	0.1	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		3088/4656	170044544	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044544G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9264C>T	2.37:g.170044544G>A							p.I3088I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9549	-			3088			LDL-receptor class A 25.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9264C>T	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	395	0	0	0	1	0	12	395					A	170044544	G	A	170044544	2	1	16	1	0	0	0	0	0	0	0	1	8994	1048	37	1		1	LRP2	2	170044544	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	3178243	170044544	73154829	13	1794											
ZAK	51776	broad.mit.edu	37	chr2	174131396	174131396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaaaagtggaataccGgaaaaagccccacaggccat	10	11	0	0	rs376247159		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:174131396G>A	ENST00000375213.3	+	20	2399	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R774Q|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		774					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GTGGAATACCGGAAAAAGCCC	0.512																																						ENST00000375213.3																			0											c.(2320-2322)cGg>cAg									25	29	27					2																	174131396		1891	4116	6007	SO:0001583	missense	0							g.chr2:174131396G>A																												ENST00000375213.3:c.2321G>A	2.37:g.174131396G>A	ENSP00000364361:p.Arg774Gln					MLTK_ENST00000409176.2_Missense_Mutation_p.R774Q|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	p.R774Q	NM_016653.2	NP_057737.2					20	2399	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2321G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.201124	0.22121	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.73681	-0.77;-0.77	6.08	3.25	0.37280	.	0.546462	0.21106	N	0.080070	T	0.51075	0.1653	N	0.17082	0.46	0.09310	N	0.999999	B	0.13594	0.008	B	0.06405	0.002	T	0.28933	-1.0028	10	0.27082	T	0.32	.	2.4083	0.04418	0.2178:0.2379:0.4366:0.1077	.	774	Q9NYL2	MLTK_HUMAN	Q	774	ENSP00000387259:R774Q;ENSP00000364361:R774Q	ENSP00000364361:R774Q	R	+	2	0	AC013461.1	173839642	0.000000	0.05858	0.009000	0.14445	0.735000	0.41995	0.968000	0.29357	0.414000	0.25790	0.591000	0.81541	CGG		0.512	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			4	86	0	0	0	1	0	4	86					A	174131396	G	A	174131396	3	1	16	1	0	0	0	0	1	0	0	0	17566	1116	39	1	2780	1	ZAK	2	174131396	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	4086852	174131396	69067977	14	1795											
COL5A2	1290	broad.mit.edu	37	chr2	189945762	189945762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagccccaggaaatccaCgagctccctgggaggaaaac	12	13	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:189945762C>T	ENST00000374866.3	-	13	1134	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	287					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGAAATCCACGAGCTCCCTG	0.413																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(859-861)cGt>cAt		collagen, type V, alpha 2							79	89	86					2																	189945762		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189945762C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.860G>A	2.37:g.189945762C>T	ENSP00000364000:p.Arg287His						p.R287H	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		13	1134	-			287					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.860G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216368	0.79352	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94232	-3.38	5.26	5.26	0.73747	.	0.000000	0.42964	D	0.000627	D	0.96137	0.8741	M	0.77820	2.39	0.51233	D	0.999915	D;D	0.71674	0.998;0.995	D;D	0.71184	0.964;0.972	D	0.95592	0.8655	9	.	.	.	.	14.2306	0.65890	0.0:1.0:0.0:0.0	.	104;287	Q5PR22;P05997	.;CO5A2_HUMAN	H	287;104	ENSP00000364000:R287H	.	R	-	2	0	COL5A2	189654007	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.417000	0.66423	2.732000	0.93576	0.555000	0.69702	CGT		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	282	0	0	0	1	0	7	282					T	189945762	C	T	189945762	3	4	16	1	0	0	0	0	1	0	0	0	3706	536	19	1	3807	1	COL5A2	2	189945762	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	15814366	189945762	53253611	15	1796											
ALS2	57679	broad.mit.edu	37	chr2	202606452	202606452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaccaaactcctggCttcctttaccccatgaagga	8	13	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:202606452C>T	ENST00000264276.6	-	11	2668	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	766	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAACTCCTGGCTTCCTTTACC	0.488																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2296-2298)Gcc>Acc		amyotrophic lateral sclerosis 2 (juvenile)							69	67	68					2																	202606452		1931	4153	6084	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202606452C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2296G>A	2.37:g.202606452C>T	ENSP00000264276:p.Ala766Thr					ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	p.A766T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			11	2668	-			766			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2296G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760467	0.69763	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63255	-0.03;-0.03	5.97	5.09	0.68999	Dbl homology (DH) domain (4);	0.178064	0.49305	D	0.000148	T	0.69557	0.3124	L	0.27053	0.805	0.41489	D	0.988215	D;D;B	0.89917	1.0;0.97;0.146	D;P;B	0.87578	0.998;0.801;0.326	T	0.73316	-0.4021	10	0.54805	T	0.06	.	16.6047	0.84825	0.1313:0.8687:0.0:0.0	.	766;766;766	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	T	766;78	ENSP00000264276:A766T;ENSP00000394823:A78T	ENSP00000264276:A766T	A	-	1	0	ALS2	202314697	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.060000	0.49955	1.515000	0.48885	-0.182000	0.12963	GCC		0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		8	200	0	0	0	1	0	8	200					T	202606452	C	T	202606452	3	4	16	1	0	0	0	0	1	0	0	0	550	797	28	2	2773	2	ALS2	2	202606452	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	12660690	202606452	40592921	16	1797											
STAB1	23166	broad.mit.edu	37	chr3	52544021	52544021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggcccacagggctggCccagcactgccacctgcatg	13	16	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:52544021C>T	ENST00000321725.6	+	23	2559	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	828	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGCTGGCCCAGCACTGC	0.662																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2482-2484)gCc>gTc		stabilin 1							58	62	60					3																	52544021		2203	4298	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544021C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2483C>T	3.37:g.52544021C>T	ENSP00000312946:p.Ala828Val						p.A828V	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	23	2559	+			828			EGF-like 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2483C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	7.895	0.733050	0.15507	.	.	ENSG00000010327	ENST00000321725	T	0.03124	4.04	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.456341	0.21799	N	0.068955	T	0.03520	0.0101	L	0.38838	1.175	0.31954	N	0.609253	P	0.46142	0.873	B	0.35931	0.214	T	0.39418	-0.9615	10	0.11182	T	0.66	.	17.4369	0.87555	0.0:1.0:0.0:0.0	.	828	Q9NY15	STAB1_HUMAN	V	828	ENSP00000312946:A828V	ENSP00000312946:A828V	A	+	2	0	STAB1	52519061	0.518000	0.26234	0.857000	0.33713	0.553000	0.35397	3.120000	0.50430	2.447000	0.82792	0.655000	0.94253	GCC		0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		5	367	0	0	0	1	0	5	367					T	52544021	C	T	52544021	3	4	16	1	0	0	0	0	1	0	0	0	15289	739	26	2	2573	2	STAB1	3	52544021	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		52544021	145478409	17	1798											
ROBO1	6091	broad.mit.edu	37	chr3	78655890	78655890	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attggatgagtaccttggatGagatgagtctttgctggtgg	15	4	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:78655890G>T	ENST00000464233.1	-	29	4850	c.4737C>A	c.(4735-4737)ctC>ctA	p.L1579L	ROBO1_ENST00000436010.2_Silent_p.L1540L|ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1579					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)			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)		TACCTTGGATGAGATGAGTCT	0.448																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4618-4620)ctC>ctA		roundabout, axon guidance receptor, homolog 1 (Drosophila)							555	522	533					3																	78655890		2063	4187	6250	SO:0001819	synonymous_variant	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.chr3:78655890G>T	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.4737C>A	3.37:g.78655890G>T						ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000464233.1_Silent_p.L1579L	p.L1540L			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	5617	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1579					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.4620C>A	CCDS54611.1																																																																																				0.448	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		29	1497	1	0	2.35188e-11	1	2.50999e-11	29	1497					T	78655890	G	T	78655890	2	4	16	1	0	0	0	0	0	0	0	1	13563	1277	45	3		3	ROBO1	3	78655890	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	26111869	78655890	119366540	18	1799											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	349	0	0	0	1	0	5	349					A	129370592	T	A	129370592	3	1	16	1	0	0	0	0	1	0	0	0	16044	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	50714702	129370592	68651838	19	1800											
C3orf58	205428	broad.mit.edu	37	chr3	143704424	143704424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggccatttgcaaagtatCttggagcttgtggaagaatg	13	5	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:143704424C>G	ENST00000315691.3	+	2	1232	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	233					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCAAAGTATCTTGGAGCTTG	0.393																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(697-699)Ctt>Gtt		chromosome 3 open reading frame 58							152	151	152					3																	143704424		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704424C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.697C>G	3.37:g.143704424C>G	ENSP00000320081:p.Leu233Val					C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V|C3orf58_ENST00000493396.1_Intron	p.L233V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1232	+			233					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.697C>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573485	0.45902	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.36878	1.23	5.24	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.46698	0.1406	M	0.73217	2.22	0.80722	D	1	P;D	0.56287	0.915;0.975	P;P	0.52957	0.596;0.714	T	0.45731	-0.9241	10	0.51188	T	0.08	.	8.7331	0.34512	0.0:0.7811:0.0:0.2189	.	24;233	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	V	233;24;39	ENSP00000320081:L233V	ENSP00000320081:L233V	L	+	1	0	C3orf58	145187114	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.837000	0.55820	1.228000	0.43614	-0.136000	0.14681	CTT		0.393	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		13	593	0	0	0	1	0	13	593					G	143704424	C	G	143704424	3	3	16	1	0	0	0	0	1	0	0	0	2243	913	32	5	737	5	C3orf58	3	143704424	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	14333832	143704424	54318006	20	1801											
PPM1L	151742	broad.mit.edu	37	chr3	160783197	160783197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatttttcaggcacaaCgtgtttgattgctctgctat	7	9	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:160783197C>T	ENST00000498165.1	+	3	682	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	194	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.T194K(1)|p.T15K(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)			TCAGGCACAACGTGTTTGATT	0.478																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			2	Substitution - Missense(2)	p.T194K(1)|p.T15K(1)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(580-582)aCg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							89	94	92					3																	160783197		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.chr3:160783197C>T	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.581C>T	3.37:g.160783197C>T	ENSP00000417659:p.Thr194Met					PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M	p.T194M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	682	+			194			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.581C>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144990	0.77888	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.30981	1.51;1.51;1.51	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84979	0.0887	10	0.87932	D	0	.	17.7238	0.88359	0.0:1.0:0.0:0.0	.	67;194	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	M	194;15;67	ENSP00000417659:T194M;ENSP00000420746:T15M;ENSP00000295839:T67M	ENSP00000295839:T67M	T	+	2	0	PPM1L	162265891	1.000000	0.71417	0.986000	0.45419	0.575000	0.36095	7.298000	0.78815	2.681000	0.91329	0.561000	0.74099	ACG		0.478	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		9	415	0	0	0	1	0	9	415					T	160783197	C	T	160783197	3	4	16	1	0	0	0	0	1	0	0	0	12391	536	19	1	591	1	PPM1L	3	160783197	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	17078773	160783197	37239233	21	1802											
ZNF141	7700	broad.mit.edu	37	chr4	337651	337651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgaccagcagaatttGtatagagatgtgatgttgga	12	6	0	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000512994.1_Silent_p.L28L|ZNF141_ENST00000505939.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388																																						ENST00000240499.7																			1	Substitution - coding silent(1)	p.L28L(1)	lung(1)	breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(82-84)ttG>ttA		zinc finger protein 141							69	74	73					4																	337651		2203	4300	6503	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:337651G>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.84G>A	4.37:g.337651G>A						ZNF141_ENST00000505939.1_Silent_p.L28L|ZNF141_ENST00000512994.1_Silent_p.L28L	p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			2	233	+			28			KRAB.		Q6DK07	Silent	SNP	ENST00000240499.7	37	c.84G>A	CCDS33931.1																																																																																				0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		5	526	0	0	0	1	0	5	526					A	337651	G	A	337651	2	1	16	1	0	0	0	0	0	0	0	1	17783	1368	48	2		2	ZNF141	4	337651	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		337651	190816625	22	1803											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		12	832						12	832	---	---	---	---	-	946207	TG	-	946206	7	5	16	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-2J-AABV-01A-12D-A40W-08	608555	946206	190208070	23	1804											
ACOX3	8310	broad.mit.edu	37	chr4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagtcccactagagcttcGatttcagacttcctatgaca	7	13	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_3'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	698					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTAGAGCTTCGATTTCAGACT	0.517																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(2092-2094)tCg>tTg		acyl-CoA oxidase 3, pristanoyl							127	118	121					4																	8368698		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8368698G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.2093C>T	4.37:g.8368698G>A	ENSP00000348775:p.Ser698Leu					ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L	p.S698L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			18	2170	-			698					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.2093C>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598931	0.66332	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	D;D	0.93247	-3.19;-3.19	5.16	5.16	0.70880	.	0.535944	0.17481	N	0.172735	D	0.92984	0.7767	M	0.76574	2.34	0.24015	N	0.996166	D	0.61697	0.99	B	0.42188	0.379	D	0.88987	0.3412	10	0.87932	D	0	1.4088	16.1529	0.81634	0.0:0.0:1.0:0.0	.	698	O15254	ACOX3_HUMAN	L	698	ENSP00000348775:S698L;ENSP00000421625:S698L	ENSP00000348775:S698L	S	-	2	0	ACOX3	8419598	0.948000	0.32251	0.037000	0.18230	0.026000	0.11368	7.092000	0.76930	2.411000	0.81874	0.655000	0.94253	TCG		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			8	416	0	0	0	1	0	8	416					A	8368698	G	A	8368698	3	1	16	1	0	0	0	0	1	0	0	0	160	1059	37	1	13	1	ACOX3	4	8368698	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	7422492	8368698	182785578	24	1805											
DRD5	1816	broad.mit.edu	37	chr4	9783962	9783962	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggcagtcgccgaggtGgccggttactggccctttgg	17	10	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51	49	49					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783962G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			6	233	1	0	9.31168e-06	1	9.69331e-06	6	233					T	9783962	G	T	9783962	2	4	16	1	0	0	0	0	0	0	0	1	4776	1335	47	3		3	DRD5	4	9783962	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	1415264	9783962	181370314	25	1806											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984668	41984668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagagcaatgcctgatgGcatcagacatgactggaaag	12	7	1	5			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:41984668G>A	ENST00000333141.5	+	1	956	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	287										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATGCCTGATGGCATCAGACAT	0.532																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(859-861)Gca>Aca		DDB1 and CUL4 associated factor 4-like 1							124	108	113					4																	41984668		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984668G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.859G>A	4.37:g.41984668G>A	ENSP00000327796:p.Ala287Thr						p.A287T	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	956	+			287					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.859G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303230	0.40795	.	.	ENSG00000182308	ENST00000333141	T	0.67171	-0.25	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100771	0.64402	D	0.000002	T	0.59770	0.2218	M	0.63843	1.955	0.36094	D	0.84367	P	0.49961	0.93	B	0.43575	0.424	T	0.66015	-0.6028	10	0.46703	T	0.11	.	7.7469	0.28875	1.0E-4:0.0:0.9999:0.0	.	287	Q3SXM0	DC4L1_HUMAN	T	287	ENSP00000327796:A287T	ENSP00000327796:A287T	A	+	1	0	DCAF4L1	41679425	1.000000	0.71417	0.144000	0.22314	0.696000	0.40369	4.160000	0.58164	0.821000	0.34540	0.313000	0.20887	GCA		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		6	483	0	0	0	1	0	6	483					A	41984668	G	A	41984668	3	1	16	1	0	0	0	0	1	0	0	0	4282	1203	42	2	861	2	DCAF4L1	4	41984668	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	32200706	41984668	149169608	26	1807											
GRID2	2895	broad.mit.edu	37	chr4	93511323	93511323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaggatgatgaggtaTttcgcactgcggttggtgac	13	7	0	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:93511323T>C	ENST00000282020.4	+	2	388	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	44					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)			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)		TGATGAGGTATTTCGCACTGC	0.383																																						ENST00000282020.4																			0				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						c.(130-132)Ttt>Ctt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						120	115	117					4																	93511323		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.chr4:93511323T>C	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.130T>C	4.37:g.93511323T>C	ENSP00000282020:p.Phe44Leu					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	2	388	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	44					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.130T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232293	0.79688	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85411	-1.7;-1.98	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.370342	0.23413	N	0.048445	D	0.88683	0.6503	L	0.34521	1.04	0.37505	D	0.916902	P;D	0.57257	0.924;0.979	P;D	0.74023	0.878;0.982	D	0.91209	0.4997	10	0.87932	D	0	.	16.194	0.82011	0.0:0.0:0.0:1.0	.	44;44	E9PH24;O43424	.;GRID2_HUMAN	L	44	ENSP00000282020:F44L;ENSP00000421257:F44L	ENSP00000282020:F44L	F	+	1	0	GRID2	93730346	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	TTT		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			6	420	0	0	0	1	0	6	420					C	93511323	T	C	93511323	3	2	16	1	0	0	0	0	1	0	0	0	6802	1493	52	4	136	4	GRID2	4	93511323	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	51526655	93511323	97642953	27	1808											
PDHA2	5161	broad.mit.edu	37	chr4	96762083	96762083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggatgttctgtgtgttcGtgaggcaacaaaatttgcag	12	5	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:96762083G>A	ENST00000295266.4	+	1	845	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	261					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTGTGTGTTCGTGAGGCAACA	0.473																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(781-783)cGt>cAt		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						148	147	147					4																	96762083		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762083G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.782G>A	4.37:g.96762083G>A	ENSP00000295266:p.Arg261His						p.R261H	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	845	+		Hepatocellular(203;0.114)	261					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.782G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635923	0.67130	.	.	ENSG00000163114	ENST00000295266	D	0.95885	-3.84	4.91	4.06	0.47325	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.53561	1.675	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.95644	0.8701	10	0.87932	D	0	-18.3149	11.0734	0.48016	0.0921:0.0:0.9079:0.0	.	261	P29803	ODPAT_HUMAN	H	261	ENSP00000295266:R261H	ENSP00000295266:R261H	R	+	2	0	PDHA2	96981106	0.848000	0.29623	0.782000	0.31804	0.637000	0.38172	4.724000	0.61972	2.733000	0.93635	0.467000	0.42956	CGT		0.473	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	237	0	0	0	1	0	5	237					A	96762083	G	A	96762083	3	1	16	1	0	0	0	0	1	0	0	0	11707	1145	40	1	784	1	PDHA2	4	96762083	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	3250760	96762083	94392193	28	1809											
ANKRD50	57182	broad.mit.edu	37	chr4	125599973	125599973	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacgtttgttcaccttcagtAatgttacacccttcatcaac	5	12	4	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:125599973A>T	ENST00000504087.1	-	3	1637	c.600T>A	c.(598-600)atT>atA	p.I200I	ANKRD50_ENST00000515641.1_Silent_p.I21I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	200										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CACCTTCAGTAATGTTACACC	0.453																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(598-600)atT>atA		ankyrin repeat domain 50							195	191	193					4																	125599973		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125599973A>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.600T>A	4.37:g.125599973A>T						ANKRD50_ENST00000515641.1_Silent_p.I21I	p.I200I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1637	-			200					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.600T>A	CCDS34060.1																																																																																				0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		18	588	0	0	0	1	0	18	588					T	125599973	A	T	125599973	2	4	16	1	0	0	0	0	0	0	0	1	677	358	13	5		5	ANKRD50	4	125599973	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	28837890	125599973	65554303	29	1810											
CDH10	1008	broad.mit.edu	37	chr5	24511502	24511502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcaaacatatcagtaccGtcaccatcaataattcggta	5	10	4	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:24511502G>T	ENST00000264463.4	-	6	1443	c.936C>A	c.(934-936)gaC>gaA	p.D312E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	312	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAGTACCGTCACCATCAA	0.438										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(934-936)gaC>gaA		cadherin 10, type 2 (T2-cadherin)							256	206	223					5																	24511502		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511502G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.936C>A	5.37:g.24511502G>T	ENSP00000264463:p.Asp312Glu	HNSCC(23;0.051)					p.D312E	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1443	-			312			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.936C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151750	0.38021	.	.	ENSG00000040731	ENST00000264463	T	0.01685	4.69	5.22	1.4	0.22301	Cadherin (4);Cadherin-like (1);	0.049789	0.85682	D	0.000000	T	0.03220	0.0094	L	0.35723	1.085	0.35051	D	0.760673	P	0.42203	0.773	P	0.52856	0.711	T	0.53655	-0.8408	10	0.33940	T	0.23	.	8.8072	0.34945	0.7795:0.0:0.2205:0.0	.	312	Q9Y6N8	CAD10_HUMAN	E	312	ENSP00000264463:D312E	ENSP00000264463:D312E	D	-	3	2	CDH10	24547259	0.996000	0.38824	0.987000	0.45799	0.607000	0.37147	0.495000	0.22483	0.004000	0.14682	-0.247000	0.11927	GAC		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	609	1	0	2.48551e-13	1	2.67508e-13	13	609					T	24511502	G	T	24511502	3	4	16	1	0	0	0	0	1	0	0	0	3105	1136	40	3	1458	3	CDH10	5	24511502	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		24511502	156403758	30	1811											
RICTOR	253260	broad.mit.edu	37	chr5	38954899	38954899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttccaacaaatggcagcCtgttttatggtgtactagtt	8	8	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:38954899C>T	ENST00000357387.3	-	27	2704	c.2674G>A	c.(2674-2676)Ggc>Agc	p.G892S	RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAATGGCAGCCTGTTTTATGG	0.313																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2674-2676)Ggc>Agc		RPTOR independent companion of MTOR, complex 2							117	116	116					5																	38954899		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38954899C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2674G>A	5.37:g.38954899C>T	ENSP00000349959:p.Gly892Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	p.G892S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			27	2704	-	all_lung(31;0.000396)		892						Missense_Mutation	SNP	ENST00000357387.3	37	c.2674G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531120	0.96446	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	-0.21;-0.17	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85682	0.1301	10	0.87932	D	0	-9.9909	20.0308	0.97536	0.0:1.0:0.0:0.0	.	892;892	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	892	ENSP00000349959:G892S;ENSP00000296782:G892S	ENSP00000296782:G892S	G	-	1	0	RICTOR	38990656	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.707000	0.74654	2.732000	0.93576	0.585000	0.79938	GGC		0.313	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		13	523	0	0	0	1	0	13	523					T	38954899	C	T	38954899	3	4	16	1	0	0	0	0	1	0	0	0	13408	681	24	2	2500	2	RICTOR	5	38954899	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	14443397	38954899	141960361	31	1812											
PCDHA1	56147	broad.mit.edu	37	chr5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgggatgCgggcgtgccgcctctgggca	19	13	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1618-1620)gCg>gTg									62	67	66					5																	140167494		2203	4298	6501	SO:0001583	missense	0							g.chr5:140167494C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1619C>T	5.37:g.140167494C>T	ENSP00000420840:p.Ala540Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	p.A540V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1619	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1619C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615636	0.66672	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53857	0.6;0.6	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.404731	0.17581	U	0.169114	T	0.62575	0.2439	L	0.53617	1.68	0.31041	N	0.71635	D;D	0.67145	0.995;0.996	P;P	0.56343	0.783;0.796	T	0.68697	-0.5340	10	0.87932	D	0	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	540;540	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	540	ENSP00000420840:A540V;ENSP00000367373:A540V	ENSP00000367373:A540V	A	+	2	0	PCDHA1	140147678	0.462000	0.25791	0.953000	0.39169	0.396000	0.30629	0.881000	0.28173	1.676000	0.50930	0.549000	0.68633	GCG		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		23	520	0	0	0	1	0	23	520					T	140167494	C	T	140167494	3	4	16	1	0	0	0	0	1	0	0	0	11561	768	27	1	1621	1	PCDHA1	5	140167494	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	101212595	140167494	40747766	32	1813											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723837	140723837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttctctctgaatccGcaaagcggcagcttggtcac	9	13	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> S (in dbSNP:rs11575947).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(235-237)ccG>ccA									55	65	62					5																	140723837		2171	4291	6462	SO:0001819	synonymous_variant	0							g.chr5:140723837G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.237G>A	5.37:g.140723837G>A			OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P79P	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	237	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.237G>A	CCDS47290.1																																																																																				0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		6	581	0	0	0	1	0	6	581					A	140723837	G	A	140723837	2	1	16	1	0	0	0	0	0	0	0	1	11597	1074	38	1		1	PCDHGA3	5	140723837	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	556343	140723837	40191423	33	1814											
ADAMTS2	9509	broad.mit.edu	37	chr5	178562924	178562924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccctgcagtccccgcGcacacagaggctgaaggcgt	11	16	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:178562924G>A	ENST00000251582.7	-	13	2172	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	691	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCCCCGCGCACACAGAGG	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2071-2073)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							65	60	62					5																	178562924		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178562924G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2071C>T	5.37:g.178562924G>A	ENSP00000251582:p.Arg691Cys						p.R691C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	13	2172	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	691			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2071C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797583	0.70567	.	.	ENSG00000087116	ENST00000251582	T	0.69175	-0.38	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000034	D	0.83440	0.5255	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.86425	0.1757	10	0.72032	D	0.01	.	14.6038	0.68463	0.0:0.0:0.8538:0.1462	.	691	O95450	ATS2_HUMAN	C	691	ENSP00000251582:R691C	ENSP00000251582:R691C	R	-	1	0	ADAMTS2	178495530	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	5.446000	0.66600	2.521000	0.84997	0.462000	0.41574	CGC		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	242	0	0	0	1	0	7	242					A	178562924	G	A	178562924	3	1	16	1	0	0	0	0	1	0	0	0	265	1087	38	1	1604	1	ADAMTS2	5	178562924	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	37839087	178562924	2352336	34	1815											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184216	26184216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatggggatcatgaatTcctttgtcaacgacatcttc	8	10	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26184216T>G	ENST00000356530.3	+	1	259	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						GATCATGAATTCCTTTGTCAA	0.587																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(193-195)Tcc>Gcc		histone cluster 1, H2be							154	145	148					6																	26184216		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184216T>G	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.193T>G	6.37:g.26184216T>G	ENSP00000348924:p.Ser65Ala						p.S65A	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	259	+			65					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.193T>G	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.725694	0.48833	.	.	ENSG00000197697	ENST00000356530	T	0.67171	-0.25	4.96	4.96	0.65561	.	0.000000	0.30732	U	0.008990	T	0.70745	0.3259	.	.	.	0.40050	D	0.975766	.	.	.	.	.	.	T	0.76337	-0.2996	7	0.87932	D	0	.	13.7937	0.63157	0.0:0.0:0.0:1.0	.	.	.	.	A	65	ENSP00000348924:S65A	ENSP00000348924:S65A	S	+	1	0	HIST1H2BE	26292195	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.612000	0.82975	2.005000	0.58758	0.438000	0.28831	TCC		0.587	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		10	836	0	0	0	1	0	10	836					G	26184216	T	G	26184216	3	3	16	1	0	0	0	0	1	0	0	0	7174	1783	62	4	195	4	HIST1H2BE	6	26184216	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08		26184216	144930851	35	1816											
KIAA0408	9729	broad.mit.edu	37	chr6	127768717	127768717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatcaattccacattttttCgtagaattgctctggagcac	7	9	2	1	rs528764032	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	249										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACATTTTTTCGTAGAATTGC	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		18557	0.002		0.0	False		,,,				2504	0.0					ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(745-747)acG>acA		KIAA0408							79	78	78					6																	127768717		2203	4300	6503	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127768717C>T	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.747G>A	6.37:g.127768717C>T						SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.T249T	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1083	-			249					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.747G>A	CCDS34531.1																																																																																				0.388	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		14	440	0	0	0	1	0	14	440					T	127768717	C	T	127768717	2	4	16	1	0	0	0	0	0	0	0	1	8204	871	31	1		1	KIAA0408	6	127768717	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	101584501	127768717	43346350	36	1817											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	1289						7	1289	---	---	---	---	-	8126099	CAG	-	8126097	7	5	16	1	0	1	0	1	0	0	0	0	6460	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-2J-AABV-01A-12D-A40W-08		8126097	151012566	37	1818											
MLXIPL	51085	broad.mit.edu	37	chr7	73008307	73008307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcgtagggagttcAggacagctgggtgggagaca	18	8	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:73008307A>G	ENST00000313375.3	-	17	2494	c.2447T>C	c.(2446-2448)cTg>cCg	p.L816P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	816					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGAGTTCAGGACAGCTGG	0.607																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2446-2448)cTg>cCg		MLX interacting protein-like							57	55	56					7																	73008307		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008307A>G	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2447T>C	7.37:g.73008307A>G	ENSP00000320886:p.Leu816Pro					MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000434326.1_3'UTR	p.L816P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			17	2494	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	816					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2447T>C	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457595	0.63401	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189	T;T;T;T;T	0.33865	2.03;2.05;2.02;2.06;1.39	4.61	3.41	0.39046	.	0.343732	0.23567	N	0.046791	T	0.54598	0.1868	M	0.70595	2.14	0.53688	D	0.999972	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.946;0.976;0.996;0.996	T	0.54437	-0.8294	10	0.87932	D	0	-16.4415	7.9763	0.30157	0.7918:0.2082:0.0:0.0	.	816;797;814;795	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	P	814;797;816;795;723	ENSP00000412330:L814P;ENSP00000406296:L797P;ENSP00000320886:L816P;ENSP00000346629:L795P;ENSP00000378616:L723P	ENSP00000320886:L816P	L	-	2	0	MLXIPL	72646243	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	8.527000	0.90594	0.756000	0.33013	0.459000	0.35465	CTG		0.607	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		5	163	0	0	0	1	0	5	163					G	73008307	A	G	73008307	3	3	16	1	0	0	0	0	1	0	0	0	9678	188	7	4	115	4	MLXIPL	7	73008307	Missense_Mutation	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	64882210	73008307	86130356	38	1819											
ZAN	7455	broad.mit.edu	37	chr7	100350550	100350550	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatctccacagaaaaacTcaccatccccacagaaaaac	2	16	2	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_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.L941P(1)		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)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	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								zonadhesin (gene/pseudogene)							260	315	297					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	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.100350550T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	766	0	0	0	1	0	6	766					C	100350550	T	C	100350550	1	2	16	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350550	RNA	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	27342243	100350550	58788113	39	1820											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394465	138394466	+	Frame_Shift_Ins	INS	-	-	C													tacggcaaaaataataaaaaINSccccgacgattcctccccag							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:138394465_138394466insC	ENST00000310018.2	-	21	2614_2615	c.2332_2333insG	c.(2332-2334)gttfs	p.V778fs	ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.V778fs|ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.V778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	778					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATAATAAAAACCCCGACGATT	0.53																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36	GRCh37	CD023241	ATP6V0A4	D		c.(2332-2334)tttfs		ATPase, H+ transporting, lysosomal V0 subunit a4																																				SO:0001589	frameshift_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394465_138394466insC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2333dupG	7.37:g.138394469_138394469dupC	ENSP00000308122:p.Val778fs					ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.F778fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.F778fs	p.F778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2614_2615	-			778					A4D1R4|A8KA80|Q32M47	Frame_Shift_Ins	INS	ENST00000310018.2	37	c.2332_2333insG	CCDS5849.1																																																																																				0.53	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		10	870						10	870	---	---	---	---	C	138394466	-	C	138394465	7	5	16	1	0	1	1	0	0	0	0	0	1171	43	2	0	197	0	ATP6V0A4	7	138394465	Frame_Shift_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	38043915	138394465	20744198	40	1821											
FAM167A	83648	broad.mit.edu	37	chr8	11301851	11301851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctccggaggtggtcatCgggtggtgcggctgctcccg	18	12	1	0	rs146121515		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:11301851C>T	ENST00000528897.1	-	2	689	c.70G>A	c.(70-72)Gat>Aat	p.D24N	FAM167A_ENST00000284486.4_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	24										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGGTGGTCATCGGGTGGTGCG	0.647																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(70-72)Gat>Aat		family with sequence similarity 167, member A		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	73	84	80		70	4.5	0.2	8	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM167A	NM_053279.2	23	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	24/215	11301851	2,13004	2203	4300	6503	SO:0001583	missense	83648							g.chr8:11301851C>T		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"chromosome 8 open reading frame 13"	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.70G>A	8.37:g.11301851C>T	ENSP00000436655:p.Asp24Asn					FAM167A_ENST00000528897.1_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N	p.D24N	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			2	608	-			24					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.70G>A	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656138	0.88056	2.27E-4	1.16E-4	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.64997	1.995	0.58432	D	0.999995	D	0.62365	0.991	B	0.41174	0.349	T	0.03717	-1.1010	10	0.72032	D	0.01	-31.7921	13.2042	0.59787	0.0:0.9239:0.0:0.0761	.	24	Q96KS9	F167A_HUMAN	N	24	ENSP00000284486:D24N;ENSP00000432232:D24N;ENSP00000436655:D24N;ENSP00000431951:D24N	ENSP00000284486:D24N	D	-	1	0	FAM167A	11339261	1.000000	0.71417	0.187000	0.23214	0.104000	0.19210	5.466000	0.66731	1.499000	0.48617	-0.136000	0.14681	GAT		0.647	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			188	752	0	0	0	1	0	188	752					T	11301851	C	T	11301851	3	4	16	1	0	0	0	0	1	0	0	0	5504	884	31	1	582	1	FAM167A	8	11301851	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		11301851	135062171	41	1822											
RGS22	26166	broad.mit.edu	37	chr8	101083654	101083654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattatcttcttcagtggcAggaggtggtagactgggtgg	16	5	3	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:101083654A>G	ENST00000360863.6	-	6	731	c.537T>C	c.(535-537)ccT>ccC	p.P179P	RGS22_ENST00000523437.1_Silent_p.P179P|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	179					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAGTGGCAGGAGGTGGTA	0.398																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(535-537)ccT>ccC		regulator of G-protein signaling 22							164	140	148					8																	101083654		1845	4093	5938	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101083654A>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.537T>C	8.37:g.101083654A>G						RGS22_ENST00000523437.1_Silent_p.P179P|RGS22_ENST00000523287.1_Intron	p.P179P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		6	731	-			179					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.537T>C	CCDS43758.1																																																																																				0.398	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	412	0	0	0	1	0	8	412					G	101083654	A	G	101083654	2	3	16	1	0	0	0	0	0	0	0	1	13355	175	7	4		4	RGS22	8	101083654	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	89781803	101083654	45280368	42	1823											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791051	49791051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctgatccccacgcaGcacaaaccagcgctgctgcc	9	16	0	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(181-183)Ctg>Ttg		Rho GTPase activating protein 22							137	124	128					10																	49791051		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791051G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.181C>T	10.37:g.49791051G>A						ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR	p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	477	-			61			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.181C>T	CCDS7227.1																																																																																				0.607	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		6	730	0	0	0	1	0	6	730					A	49791051	G	A	49791051	2	1	16	1	0	0	0	0	0	0	0	1	872	962	34	2		2	ARHGAP22	10	49791051	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		49791051	85743696	43	1824											
KIF20B	9585	broad.mit.edu	37	chr10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-													gaaacatttacttcaattaaAagaagaagaagaagaaacca					rs149688226	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del|KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				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)			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						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				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						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	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.chr10:91498335_91498337delAAG	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.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		7	251						7	251	---	---	---	---	-	91498337	AAG	-	91498335	7	5	16	1	0	1	0	1	0	0	0	0	8317	14	1	0	3691	0	KIF20B	10	91498335	In_Frame_Del	DEL	AAG	TCGA-2J-AABV-01A-12D-A40W-08	41707284	91498335	44036412	44	1825											
PPRC1	23082	broad.mit.edu	37	chr10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccgccgaggccGcaacagccgttctgtcagct	14	15	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77	69	71					10																	103907023		2203	4298	6501	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907023G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4274G>A	10.37:g.103907023G>A	ENSP00000278070:p.Arg1425His					PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	p.R1425H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4313	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4274G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	391	0	0	0	1	0	5	391					A	103907023	G	A	103907023	3	1	16	1	0	0	0	0	1	0	0	0	12457	1087	38	1	4308	1	PPRC1	10	103907023	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	12408688	103907023	31627724	45	1826											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629133	1629133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgggaacagcagggcttAcagcagctggactgggagca	16	9	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:1629133A>G	ENST00000399685.1	-	1	560	c.483T>C	c.(481-483)tgT>tgC	p.C161C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	161	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagGGCTTACAGCAGCTGG	0.617																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(481-483)tgT>tgC		keratin associated protein 5-3							146	156	153					11																	1629133		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629133A>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.483T>C	11.37:g.1629133A>G							p.C161C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	560	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	161			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.483T>C	CCDS41591.1																																																																																				0.617	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	1200	0	0	0	1	0	7	1200					G	1629133	A	G	1629133	2	3	16	1	0	0	0	0	0	0	0	1	8593	389	14	4		4	KRTAP5-3	11	1629133	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08		1629133	133377383	46	1827											
OR52E6	390078	broad.mit.edu	37	chr11	5862708	5862723	+	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	-													gcaatgaggctgatgattttGctggtgaggatcatggtgta					rs373651554|rs200675437|rs554722938		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	ENST00000329322.5	-	1	404_419	c.405_420delCATGATCCTCACCAGC	c.(403-420)accatgatcctcaccagcfs	p.TMILTS135fs	OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATTTTGCTGGTGAGGATCATGGTGTACCAAA	0.477																																						ENST00000329322.5																			1	Substitution - coding silent(1)	p.T143T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(403-420)acfs		olfactory receptor, family 52, subfamily E, member 6																																				SO:0001589	frameshift_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.405_420delCATGATCCTCACCAGC	11.37:g.5862708_5862723delGCTGGTGAGGATCATG	ENSP00000328878:p.Thr135fs					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs	p.TMILTS135fs	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	404_419	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	135					Q6IFF8	Frame_Shift_Del	DEL	ENST00000329322.5	37	c.405_420delCATGATCCTCACCAGC	CCDS53597.1																																																																																				0.477	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		9	910						9	910	---	---	---	---	-	5862723	GCTGGTGAGGATCATG	-	5862708	7	5	16	1	0	1	0	1	0	0	0	0	11159	1310	46	0	523	0	OR52E6	11	5862708	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	TCGA-2J-AABV-01A-12D-A40W-08	4233575	5862708	129143808	47	1828											
NAV2	89797	broad.mit.edu	37	chr11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G													ttgccagcttcatccccaaaINSggggggaagctcaacagtgc							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:19955425_19955426insG	ENST00000396087.3	+	8	1803_1804	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	NAV2_ENST00000396085.1_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.G500fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.G482fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.G498fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	569					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)			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						TCATCCCCAAAGGGGGGAAGCT	0.554																																						ENST00000396085.1																			0				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						c.(1633-1638)aaggggfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955425_19955426insG	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.1710dupG	11.37:g.19955431_19955431dupG	ENSP00000379396:p.Gly569fs					NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	p.KG545fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1996_1997	+			568					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.1635_1636insG	CCDS58126.1																																																																																				0.554	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	551						13	551	---	---	---	---	G	19955426	-	G	19955425	7	5	16	1	0	1	1	0	0	0	0	0	10225	69	3	0	1740	0	NAV2	11	19955425	Frame_Shift_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	14092717	19955425	115051091	48	1829											
PACS1	55690	broad.mit.edu	37	chr11	66009102	66009102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatggccatgactgtggtCaccaaagaaaagaacaagaa	9	9	1	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:66009102C>T	ENST00000320580.4	+	22	2667	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	PACS1_ENST00000529757.1_Silent_p.V414V|PACS1_ENST00000524815.1_Silent_p.V6V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	878					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACTGTGGTCACCAAAGAAA	0.582																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(2632-2634)gtC>gtT		phosphofurin acidic cluster sorting protein 1							66	63	64					11																	66009102		2200	4295	6495	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66009102C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2634C>T	11.37:g.66009102C>T						PACS1_ENST00000524815.1_Silent_p.V6V|PACS1_ENST00000529757.1_Silent_p.V414V	p.V878V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			22	2667	+			878					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.2634C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347801	0.24426	.	.	ENSG00000175115	ENST00000529677	.	.	.	5.42	4.52	0.55395	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57917	-0.7728	4	.	.	.	-31.5432	9.2199	0.37370	0.0:0.7753:0.146:0.0787	.	.	.	.	Y	62	.	.	H	+	1	0	PACS1	65765678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.624000	0.37018	1.448000	0.47680	0.655000	0.94253	CAC		0.582	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	280	0	0	0	1	0	6	280					T	66009102	C	T	66009102	2	4	16	1	0	0	0	0	0	0	0	1	11414	813	29	2		2	PACS1	11	66009102	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	46053677	66009102	68997414	49	1830											
ATM	472	broad.mit.edu	37	chr11	108178642	108178642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcagagcactttttccGatgctgtttggataaaaaat	9	6	1	2	rs370680798	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:108178642G>A	ENST00000452508.2	+	39	5882	c.5693G>A	c.(5692-5694)cGa>cAa	p.R1898Q	ATM_ENST00000278616.4_Missense_Mutation_p.R1898Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1898					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CACTTTTTCCGATGCTGTTTG	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G|||	5	0.000998403	0.0	0.0	5008	,	,		19894	0.0		0.0	False		,,,				2504	0.0051					ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5692-5694)cGa>cAa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		G	GLN/ARG	0,4402		0,0,2201	153	137	143		5693	4.1	0.2	11		143	1,8595	1.2+/-3.3	0,1,4297	no	missense	ATM	NM_000051.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	1898/3057	108178642	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108178642G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5693G>A	11.37:g.108178642G>A	ENSP00000388058:p.Arg1898Gln	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R1898Q	p.R1898Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	38	6078	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1898					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5693G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603627	0.28534	0.0	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.74632	-0.86;-0.86	6.03	4.13	0.48395	Armadillo-type fold (1);	0.264244	0.39274	N	0.001409	T	0.59321	0.2185	L	0.45137	1.4	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.40646	-0.9552	10	0.15066	T	0.55	.	4.5798	0.12253	0.2461:0.0:0.6011:0.1528	.	1898	Q13315	ATM_HUMAN	Q	1898	ENSP00000278616:R1898Q;ENSP00000388058:R1898Q	ENSP00000278616:R1898Q	R	+	2	0	ATM	107683852	0.891000	0.30450	0.169000	0.22859	0.982000	0.71751	2.079000	0.41577	0.831000	0.34780	0.655000	0.94253	CGA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	151	0	0	0	1	0	6	151					A	108178642	G	A	108178642	3	1	16	1	0	0	0	0	1	0	0	0	1110	1058	37	1	5839	1	ATM	11	108178642	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	42169540	108178642	26827874	50	1831											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352231	120352231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcttgtgcagattcacaGagccagatcatggagtacat	9	10	3	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:120352231G>A	ENST00000397843.2	+	39	4666	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q|ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1500					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGATTCACAGAGCCAGATCA	0.458			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4498-4500)caG>caA		Rho guanine nucleotide exchange factor (GEF) 12							83	85	85					11																	120352231		1950	4148	6098	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352231G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4500G>A	11.37:g.120352231G>A						ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q|ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q	p.Q1500Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4666	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1500					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.4500G>A	CCDS41727.1																																																																																				0.458	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	343	0	0	0	1	0	10	343					A	120352231	G	A	120352231	2	1	16	1	0	0	0	0	0	0	0	1	897	933	33	2		2	ARHGEF12	11	120352231	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	12173589	120352231	14654285	51	1832											
CDON	50937	broad.mit.edu	37	chr11	125893363	125893363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacataagggtccaagatcCggatgcatagcgccagatta	11	9	0	2	rs113593771	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:125893363C>T	ENST00000392693.3	-	2	136	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CDON_ENST00000263577.7_Silent_p.P3P	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	3					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCCAAGATCCGGATGCATAG	0.443													C|||	55	0.0109824	0.0408	0.0	5008	,	,		19256	0.0		0.001	False		,,,				2504	0.0					ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(7-9)ccG>ccA		cell adhesion associated, oncogene regulated		C		146,4256	101.2+/-139.8	3,140,2058	111	107	109		9	-4.6	0.1	11	dbSNP_132	109	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CDON	NM_016952.4		3,141,6356	TT,TC,CC		0.0116,3.3167,1.1308		3/1265	125893363	147,12853	2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125893363C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.9G>A	11.37:g.125893363C>T						CDON_ENST00000263577.7_Silent_p.P3P	p.P3P	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	2	136	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	3					O14631	Silent	SNP	ENST00000392693.3	37	c.9G>A	CCDS58192.1																																																																																				0.443	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		5	403	0	0	0	1	0	5	403					T	125893363	C	T	125893363	2	4	16	1	0	0	0	0	0	0	0	1	3179	639	23	1		1	CDON	11	125893363	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	5541132	125893363	9113153	52	1833											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	220	1	0	0.0167234	1	0.016991	11	220					A	25398284	C	A	25398284	3	1	16	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		25398284	108453611	53	1834											
RAPGEF3	10411	broad.mit.edu	37	chr12	48144186	48144186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaagatgaggtccagctCttcatccgtgcgctgacctg	10	13	3	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:48144186C>T	ENST00000449771.2	-	7	782	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	232	Interaction with PDE3B.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTCCAGCTCTTCATCCGTG	0.647																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(568-570)Gag>Aag		Rap guanine nucleotide exchange factor (GEF) 3							96	67	77					12																	48144186		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48144186C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.694G>A	12.37:g.48144186C>T	ENSP00000395708:p.Glu232Lys					RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E232K	p.E190K	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	7	777	-	Lung SC(27;0.192)		190					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.568G>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106652	0.94292	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	D;D;D;D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;0.46	3.9	3.9	0.45041	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.058568	0.64402	D	0.000003	D	0.89378	0.6698	L	0.52011	1.625	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.991	D;D;P	0.68765	0.96;0.91;0.777	D	0.90439	0.4430	10	0.72032	D	0.01	.	15.7057	0.77580	0.0:1.0:0.0:0.0	.	244;232;232	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	K	190;232;190;190;190;232;244;190;232;190	ENSP00000384521:E190K;ENSP00000395708:E232K;ENSP00000448619:E190K;ENSP00000171000:E190K;ENSP00000373864:E232K;ENSP00000448480:E190K;ENSP00000378764:E232K;ENSP00000446731:E190K	ENSP00000171000:E190K	E	-	1	0	RAPGEF3	46430453	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.063000	0.76714	2.479000	0.83701	0.655000	0.94253	GAG		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		6	147	0	0	0	1	0	6	147					T	48144186	C	T	48144186	3	4	16	1	0	0	0	0	1	0	0	0	13095	922	32	2	2165	2	RAPGEF3	12	48144186	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	22745902	48144186	85707709	54	1835											
DDN	23109	broad.mit.edu	37	chr12	49391585	49391585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctgggagcgggatgCggggcacagggagccgcagt	20	9	1	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	358	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCGGGATGCGGGGCACAGG	0.597																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1072-1074)ccG>ccA		dendrin							37	38	38					12																	49391585		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391585C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1074G>A	12.37:g.49391585C>T							p.P358P	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1095	-			358			Interaction with ACTN1.			Silent	SNP	ENST00000421952.2	37	c.1074G>A	CCDS31791.2																																																																																				0.597	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			5	247	0	0	0	1	0	5	247					T	49391585	C	T	49391585	2	4	16	1	0	0	0	0	0	0	0	1	4344	755	27	1		1	DDN	12	49391585	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	1247399	49391585	84460310	55	1836											
SCN8A	6334	broad.mit.edu	37	chr12	52145205	52145205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacactttcctcatctGggagtgccacccctactgga	8	15	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:52145205G>A	ENST00000354534.6	+	14	2376	c.2198G>A	c.(2197-2199)tGg>tAg	p.W733*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	733					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)			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)	TTCCTCATCTGGGAGTGCCAC	0.443																																						ENST00000354534.5																			0				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						c.(2197-2199)tGg>tAg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						190	176	181					12																	52145205		1914	4130	6044	SO:0001587	stop_gained	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145205G>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.2198G>A	12.37:g.52145205G>A	ENSP00000346534:p.Trp733*					SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2376	+			733					B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	ENST00000354534.6	37	c.2198G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	40	7.924604	0.98563	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	.	.	.	X	733;733;733;733;646	.	ENSP00000346534:W733X	W	+	2	0	SCN8A	50431472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.727000	0.93392	0.650000	0.86243	TGG		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		29	661	0	0	0	1	0	29	661					A	52145205	G	A	52145205	4	1	16	1	0	0	0	0	0	1	0	0	13974	1357	47	2	2248	2	SCN8A	12	52145205	Nonsense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	2753620	52145205	81706690	56	1837											
DGKA	1606	broad.mit.edu	37	chr12	56333270	56333270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctactgcaatctgtgCgagtcaagcattggtcttgg	11	10	4	0	rs372105083		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:56333270C>T	ENST00000331886.5	+	9	1120	c.666C>T	c.(664-666)tgC>tgT	p.C222C	DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	222					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)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCAATCTGTGCGAGTCAAGCA	0.557																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(664-666)tgC>tgT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)	C	,,,	0,4406		0,0,2203	173	157	163		666,666,666,666	2.1	1	12		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DGKA	NM_001345.4,NM_201444.2,NM_201445.1,NM_201554.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	222/736,222/736,222/736,222/736	56333270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333270C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.666C>T	12.37:g.56333270C>T						DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000551156.1_Silent_p.C222C	p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			9	1120	+			222					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.666C>T	CCDS8896.1																																																																																				0.557	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			6	585	0	0	0	1	0	6	585					T	56333270	C	T	56333270	2	4	16	1	0	0	0	0	0	0	0	1	4481	776	27	1		1	DGKA	12	56333270	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	4188065	56333270	77518625	57	1838											
METTL3	56339	broad.mit.edu	37	chr14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaaccagtgacctgtaCggcctgtccgaatgatgcgt	12	11	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGACCTGTACGGCCTGTCCG	0.443																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1411-1413)cGt>cAt		methyltransferase like 3							168	158	161					14																	21967676		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967676C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1412G>A	14.37:g.21967676C>T	ENSP00000298717:p.Arg471His						p.R471H	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	8	1563	-	all_cancers(95;0.000628)		471					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1412G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527083	0.85706	.	.	ENSG00000165819	ENST00000298717	T	0.43688	0.94	4.9	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69822	-0.5041	10	0.87932	D	0	-9.3172	12.3983	0.55397	0.0:0.9167:0.0:0.0833	.	471	Q86U44	MTA70_HUMAN	H	471	ENSP00000298717:R471H	ENSP00000298717:R471H	R	-	2	0	METTL3	21037516	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.059000	0.76684	1.300000	0.44818	0.460000	0.39030	CGT		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		24	717	0	0	0	1	0	24	717					T	21967676	C	T	21967676	3	4	16	1	0	0	0	0	1	0	0	0	9542	536	19	1	346	1	METTL3	14	21967676	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		21967676	85381864	58	1839											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		9	131						9	131	---	---	---	---	-	74205928	CTG	-	74205926	7	5	16	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-2J-AABV-01A-12D-A40W-08	52238250	74205926	33143614	59	1840											
ALKBH1	8846	broad.mit.edu	37	chr14	78174236	78174236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccccttccaggtctgCggtcccgggccggctctgac	13	16	2	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:78174236C>T	ENST00000216489.3	-	1	127	c.112G>A	c.(112-114)Gca>Aca	p.A38T	SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000557431.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	38					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCAGGTCTGCGGTCCCGGGC	0.672																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(112-114)Gca>Aca		alkB, alkylation repair homolog 1 (E. coli)							36	39	38					14																	78174236		2198	4300	6498	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174236C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.112G>A	14.37:g.78174236C>T	ENSP00000216489:p.Ala38Thr						p.A38T	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	127	-			38					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.112G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892759	0.52121	.	.	ENSG00000100601	ENST00000216489	T	0.31510	1.49	5.96	1.95	0.26073	.	0.343898	0.33792	N	0.004541	T	0.17662	0.0424	M	0.62723	1.935	0.09310	N	1	P	0.42161	0.772	B	0.27262	0.078	T	0.17198	-1.0377	10	0.22109	T	0.4	-9.2796	2.0609	0.03592	0.1977:0.4796:0.1109:0.2118	.	38	Q13686	ALKB1_HUMAN	T	38	ENSP00000216489:A38T	ENSP00000216489:A38T	A	-	1	0	ALKBH1	77243989	0.011000	0.17503	0.035000	0.18076	0.797000	0.45037	-0.010000	0.12743	0.423000	0.26033	0.655000	0.94253	GCA		0.672	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		5	342	0	0	0	1	0	5	342					T	78174236	C	T	78174236	3	4	16	1	0	0	0	0	1	0	0	0	526	768	27	1	1081	1	ALKBH1	14	78174236	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	3968310	78174236	29175304	60	1841											
HERC2	8924	broad.mit.edu	37	chr15	28370319	28370319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgtccctcatcattgtCgccccatgtataaacctcac	5	15	3	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:28370319C>T	ENST00000261609.7	-	84	12931	c.12823G>A	c.(12823-12825)Gac>Aac	p.D4275N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7																			0				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						c.(12823-12825)Gac>Aac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211	191	198					15																	28370319		2203	4300	6503	SO:0001583	missense	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.chr15:28370319C>T	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.12823G>A	15.37:g.28370319C>T	ENSP00000261609:p.Asp4275Asn						p.D4275N	NM_004667.5	NP_004658.3	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)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539421	0.96474	.	.	ENSG00000128731	ENST00000261609	D	0.84298	-1.83	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87797	0.2622	10	0.42905	T	0.14	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	N	4275	ENSP00000261609:D4275N	ENSP00000261609:D4275N	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	1056	0	0	0	1	0	29	1056					T	28370319	C	T	28370319	3	4	16	1	0	0	0	0	1	0	0	0	7088	884	31	1	1721	1	HERC2	15	28370319	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		28370319	74161073	61	1842											
UNC13C	440279	broad.mit.edu	37	chr15	54305604	54305604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgagggcagctctgaCggggagcgtactctacatgg	14	12	3	2	rs201832839		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:54305604C>T	ENST00000260323.11	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000545554.1_Silent_p.D168D|UNC13C_ENST00000537900.1_Silent_p.D168D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCTCTGACGGGGAGCGTA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.001	False		,,,				2504	0.0					ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(502-504)gaC>gaT		unc-13 homolog C (C. elegans)		C		0,3940		0,0,1970	108	107	107		504	-1.5	1	15		107	2,8286		0,2,4142	no	coding-synonymous	UNC13C	NM_001080534.1		0,2,6112	TT,TC,CC		0.0241,0.0,0.0164		168/2215	54305604	2,12226	1970	4144	6114	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305604C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.504C>T	15.37:g.54305604C>T						UNC13C_ENST00000537900.1_Silent_p.D168D|UNC13C_ENST00000260323.11_Silent_p.D168D	p.D168D			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	504	+			168					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.504C>T	CCDS45264.1																																																																																				0.473	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	510	0	0	0	1	0	6	510					T	54305604	C	T	54305604	2	4	16	1	0	0	0	0	0	0	0	1	17040	535	19	1		1	UNC13C	15	54305604	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	25935285	54305604	48225788	62	1843											
SALL1	6299	broad.mit.edu	37	chr16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgccgctgcTgctgctgctgctgctgctgc	14	18	0	0	rs139646526	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				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)			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)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22	25	24		472,181	-0.4	0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	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.chr16:51175661T>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.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	155	0	0	0	1	0	5	155					C	51175661	T	C	51175661	3	2	16	1	0	0	0	0	1	0	0	0	13860	1580	55	4	3510	4	SALL1	16	51175661	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08		51175661	39179092	63	1844											
CX3CL1	6376	broad.mit.edu	37	chr16	57413650	57413650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaccaggcatcatgcGgcaaacgcgcaatcatgtag	10	11	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:57413650G>A	ENST00000006053.6	+	2	286	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000565912.1_Missense_Mutation_p.G21S	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512																																						ENST00000565912.1																			1	Substitution - Missense(1)	p.G59C(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(61-63)Ggc>Agc		chemokine (C-X3-C motif) ligand 1							172	132	145					16																	57413650		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57413650G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.175G>A	16.37:g.57413650G>A	ENSP00000006053:p.Gly59Ser					CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G59S	p.G21S			P78423	X3CL1_HUMAN			1	2767	+			59					O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.61G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489915	0.12702	.	.	ENSG00000006210	ENST00000006053	T	0.12569	2.67	3.0	1.04	0.20106	Chemokine interleukin-8-like domain (3);	1.124180	0.06795	N	0.787674	T	0.06188	0.0160	N	0.04880	-0.145	0.09310	N	1	P	0.43885	0.82	B	0.35770	0.21	T	0.28332	-1.0047	10	0.87932	D	0	-9.8139	5.7233	0.17998	0.2286:0.0:0.7714:0.0	.	59	P78423	X3CL1_HUMAN	S	59	ENSP00000006053:G59S	ENSP00000006053:G59S	G	+	1	0	CX3CL1	55971151	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.291000	0.18994	0.341000	0.23771	0.460000	0.39030	GGC		0.512	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		8	310	0	0	0	1	0	8	310					A	57413650	G	A	57413650	3	1	16	1	0	0	0	0	1	0	0	0	4085	1116	39	1	181	1	CX3CL1	16	57413650	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	6237989	57413650	32941103	64	1845											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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)	ENST00000420246.2		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"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	166	0	0	0	1	0	8	166					A	7577094	G	A	7577094	3	1	16	1	0	0	0	0	1	0	0	0	16434	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		7577094	73618116	65	1846											
KDM6B	23135	broad.mit.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs375218857|rs61462443		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7750177_7750178insACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACC	c.(751-756)ttacca>ttACCacca	p.264_265insP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(751-753)tcc>tACCcc		lysine (K)-specific demethylase 6B																																				SO:0001652	inframe_insertion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750177_7750178insACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.789_791dupACC	17.37:g.7750184_7750186dupACC	ENSP00000412513:p.Pro265_Pro266dup					KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YP	p.251_251S>YP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1141_1142	+			251			Pro-rich.		C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37	c.752_753insACC																																																																																					0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	96						7	96	---	---	---	---	ACC	7750178	-	ACC	7750177	7	5	16	1	0	1	1	0	0	0	0	0	8168	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	173083	7750177	73445033	66	1847											
VAMP2	6844	broad.mit.edu	37	chr17	8064816	8064816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgaggatgatggcGcaaatcactcccaagatgat	11	7	1	6			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:8064816G>A	ENST00000316509.6	-	4	404	c.309C>T	c.(307-309)tgC>tgT	p.C103C	VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C|VAMP2_ENST00000488857.1_Silent_p.C105C|RP11-599B13.6_ENST00000498285.1_Silent_p.C103C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	103					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	GGATGATGGCGCAAATCACTC	0.517																																						ENST00000316509.6																			0											c.(307-309)tgC>tgT		vesicle-associated membrane protein 2 (synaptobrevin 2)	Botulinum Toxin Type B(DB00042)						129	103	112					17																	8064816		2203	4300	6503	SO:0001819	synonymous_variant	6844				energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome		g.chr17:8064816G>A		CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"Vesicle-associated membrane proteins"	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.309C>T	17.37:g.8064816G>A						RP11-599B13.6_ENST00000498285.1_Silent_p.C103C|VAMP2_ENST00000488857.1_Silent_p.C105C|VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C	p.C103C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN			4	404	-			103					P19065|Q9BUC2	Silent	SNP	ENST00000316509.6	37	c.309C>T	CCDS32561.1																																																																																				0.517	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317118.1			5	180	0	0	0	1	0	5	180					A	8064816	G	A	8064816	2	1	16	1	0	0	0	0	0	0	0	1	17167	1079	38	1		1	VAMP2	17	8064816	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	314639	8064816	73130394	67	1848											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383115	39383115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacctgctgccagcccaCctgtgtgaccagctgctgcc	10	18	0	1	rs533925701	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39383115C>T	ENST00000377721.3	+	1	216	c.209C>T	c.(208-210)aCc>aTc	p.T70I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	70	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCACCTGTGTGACC	0.652													.|||	13	0.00259585	0.0098	0.0	5008	,	,		21756	0.0		0.0	False		,,,				2504	0.0					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(208-210)aCc>aTc		keratin associated protein 9-2							48	43	45					17																	39383115		2203	4296	6499	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39383115C>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.209C>T	17.37:g.39383115C>T	ENSP00000366950:p.Thr70Ile					KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	216	+		Breast(137;0.000496)	70			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.209C>T	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	9.943	1.217970	0.22373	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01422	4.93;4.91	2.79	-3.35	0.04928	.	.	.	.	.	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.45026	-0.9289	9	0.30078	T	0.28	.	4.8684	0.13620	0.0:0.3181:0.4293:0.2527	.	70	Q9BYQ4	KRA92_HUMAN	I	70	ENSP00000366950:T70I;ENSP00000398325:T70I	ENSP00000366950:T70I	T	+	2	0	KRTAP9-2	36636641	0.173000	0.23056	0.000000	0.03702	0.143000	0.21401	0.613000	0.24299	-0.580000	0.05944	-0.267000	0.10333	ACC		0.652	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			6	377	0	0	0	1	0	6	377					T	39383115	C	T	39383115	3	4	16	1	0	0	0	0	1	0	0	0	8604	507	18	2	211	2	KRTAP9-2	17	39383115	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	31318299	39383115	41812095	68	1849											
KRT33A	3883	broad.mit.edu	37	chr17	39506938	39506938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgggcagggtgcagcCgtggcagctggggggcacac	20	13	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39506938C>T	ENST00000007735.3	-	1	126	c.82G>A	c.(82-84)Ggc>Agc	p.G28S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	28	Head.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGTGCAGCCGTGGCAGCTG	0.642																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(82-84)Ggc>Agc		keratin 33A							35	40	38					17																	39506938		2196	4300	6496	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506938C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.82G>A	17.37:g.39506938C>T	ENSP00000007735:p.Gly28Ser						p.G28S	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	126	-		Breast(137;0.000496)	28			Head.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.82G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552601	0.27739	.	.	ENSG00000006059	ENST00000007735	D	0.81579	-1.51	5.09	-4.82	0.03171	.	0.804604	0.11801	N	0.528143	T	0.62097	0.2400	N	0.12746	0.255	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.40887	-0.9539	10	0.33940	T	0.23	.	14.4405	0.67314	0.0:0.8319:0.0:0.1681	.	28	O76009	KT33A_HUMAN	S	28	ENSP00000007735:G28S	ENSP00000007735:G28S	G	-	1	0	KRT33A	36760464	0.000000	0.05858	0.002000	0.10522	0.875000	0.50365	-0.320000	0.08028	-0.820000	0.04318	-0.262000	0.10625	GGC		0.642	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		8	318	0	0	0	1	0	8	318					T	39506938	C	T	39506938	3	4	16	1	0	0	0	0	1	0	0	0	8499	652	23	1	1160	1	KRT33A	17	39506938	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	123823	39506938	41688272	69	1850											
STAT5A	6776	broad.mit.edu	37	chr17	40444033	40444033	+	Frame_Shift_Del	DEL	G	G	-													ggagctggtccgctgcatccGgcacattctgtacaatgaac					rs202112433		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:40444033delG	ENST00000345506.4	+	5	971	c.329delG	c.(328-330)cggfs	p.R110fs	STAT5A_ENST00000590949.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000588868.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000546010.2_Intron	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	110					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTGCATCCGGCACATTCTG	0.562																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(328-330)cgfs		signal transducer and activator of transcription 5A							86	76	80					17																	40444033		2203	4300	6503	SO:0001589	frameshift_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40444033delG	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.329delG	17.37:g.40444033delG	ENSP00000341208:p.Arg110fs					STAT5A_ENST00000546010.2_Intron|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000588868.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.R110fs	p.R110fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	971	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	110					Q1KLZ6	Frame_Shift_Del	DEL	ENST00000345506.4	37	c.329delG	CCDS11424.1																																																																																				0.562	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		11	318						11	318	---	---	---	---	-	40444033	G	-	40444033	7	5	16	1	0	1	0	1	0	0	0	0	15320	1116	39	0	339	0	STAT5A	17	40444033	Frame_Shift_Del	DEL	G	TCGA-2J-AABV-01A-12D-A40W-08	937095	40444033	40751177	70	1851											
USP32	84669	broad.mit.edu	37	chr17	58289395	58289395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagacttacccttgtgtctAtctattttactactatttgc	6	9	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:58289395A>G	ENST00000300896.4	-	19	2363	c.2169T>C	c.(2167-2169)gaT>gaC	p.D723D	USP32_ENST00000592339.1_Silent_p.D393D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	723					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTTGTGTCTATCTATTTTAC	0.308																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(2167-2169)gaT>gaC		ubiquitin specific peptidase 32							76	73	74					17																	58289395		2203	4298	6501	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58289395A>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2169T>C	17.37:g.58289395A>G						USP32_ENST00000592339.1_Silent_p.D393D	p.D723D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		19	2363	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		723					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.2169T>C	CCDS32697.1																																																																																				0.308	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	286	0	0	0	1	0	5	286					G	58289395	A	G	58289395	2	3	16	1	0	0	0	0	0	0	0	1	17117	446	16	4		4	USP32	17	58289395	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	17845362	58289395	22905815	71	1852											
FTSJ3	117246	broad.mit.edu	37	chr17	61901501	61901503	+	In_Frame_Del	DEL	TCC	TCC	-													ccaaggtctggttcagttgtTcctcctcctcctcttcctcc					rs373166853		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:61901501_61901503delTCC	ENST00000427159.2	-	12	1740_1742	c.1095_1097delGGA	c.(1093-1098)gaggaa>gaa	p.365_366EE>E	FTSJ3_ENST00000580295.1_5'Flank	NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTTCAGTTGTtcctcctcctcct	0.562																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1093-1098)gaa>ga		FtsJ homolog 3 (E. coli)																																				SO:0001651	inframe_deletion	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901501_61901503delTCC	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"SPB1 RNA methyltransferase homolog (S. cerevisiae)"						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1095_1097delGGA	17.37:g.61901510_61901512delTCC	ENSP00000396673:p.Glu366del						p.EE365del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			12	1740_1742	-			365						In_Frame_Del	DEL	ENST00000427159.2	37	c.1095_1097delGGA	CCDS11644.1																																																																																				0.562	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1			7	802						7	802	---	---	---	---	-	61901503	TCC	-	61901501	7	5	16	1	0	1	0	1	0	0	0	0	6116	1783	62	0	1486	0	FTSJ3	17	61901501	In_Frame_Del	DEL	TCC	TCGA-2J-AABV-01A-12D-A40W-08	3612106	61901501	19293709	72	1853											
HN1	51155	broad.mit.edu	37	chr17	73132223	73132223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacgaggctggacttgcCgccagggggatttcttctgg	15	10	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:73132223C>T	ENST00000409753.3	-	5	724	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000476258.1_Missense_Mutation_p.G101S|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|RP11-649A18.5_ENST00000584339.1_RNA	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	147					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGGACTTGCCGCCAGGGGGA	0.617																																						ENST00000476258.1																		HN1/USH1G(2)	0				breast(1)	1						c.(301-303)Ggc>Agc		hematological and neurological expressed 1							72	72	72					17																	73132223		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73132223C>T	AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"androgen-regulated protein 2"					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.439G>A	17.37:g.73132223C>T	ENSP00000387059:p.Gly147Ser					HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000409753.3_Missense_Mutation_p.G147S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S	p.G101S			Q9UK76	HN1_HUMAN			5	1408	-	all_lung(278;0.14)|Lung NSC(278;0.168)		147					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.301G>A	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394833	0.96009	.	.	ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000392566	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	D	0.83403	0.5247	.	.	.	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.84802	0.0785	7	0.87932	D	0	-34.3147	18.3821	0.90454	0.0:1.0:0.0:0.0	.	147	Q9UK76	HN1_HUMAN	S	101;147;101	.	ENSP00000440912:G101S	G	-	1	0	HN1	70643818	0.998000	0.40836	0.969000	0.41365	0.961000	0.63080	4.949000	0.63596	2.773000	0.95371	0.643000	0.83706	GGC		0.617	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		11	465	0	0	0	1	0	11	465					T	73132223	C	T	73132223	3	4	16	1	0	0	0	0	1	0	0	0	7279	652	23	1	129	1	HN1	17	73132223	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	11230722	73132223	8062987	73	1854											
ZNRF4	148066	broad.mit.edu	37	chr19	5456659	5456659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccccatctgggccaTtcaagtccagctacgctccc	8	20	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:5456659T>C	ENST00000222033.4	+	1	1234	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	386						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCTGGGCCATTCAAGTCCAG	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1156-1158)aTt>aCt		zinc and ring finger 4							35	42	40					19																	5456659		1982	4149	6131	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456659T>C	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1157T>C	19.37:g.5456659T>C	ENSP00000222033:p.Ile386Thr						p.I386T	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1234	+			386					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.1157T>C	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	T	2.697	-0.271774	0.05716	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.47	1.02	0.19986	.	0.686881	0.13351	U	0.394422	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.14578	0.011	T	0.44159	-0.9346	10	0.27785	T	0.31	-11.1573	3.5984	0.08014	0.2261:0.0:0.2332:0.5407	.	386	Q8WWF5	ZNRF4_HUMAN	T	386	ENSP00000222033:I386T	ENSP00000222033:I386T	I	+	2	0	ZNRF4	5407659	0.697000	0.27767	0.686000	0.30086	0.005000	0.04900	1.600000	0.36762	0.473000	0.27368	-0.516000	0.04426	ATT		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		10	322	0	0	0	1	0	10	322					C	5456659	T	C	5456659	3	2	16	1	0	0	0	0	1	0	0	0	18267	1493	52	4	1159	4	ZNRF4	19	5456659	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08		5456659	53672324	74	1855											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		7	227						7	227	---	---	---	---	-	6381793	CTT	-	6381791	7	5	16	1	0	1	0	1	0	0	0	0	6888	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-2J-AABV-01A-12D-A40W-08	925132	6381791	52747192	75	1856											
OR7G3	390883	broad.mit.edu	37	chr19	9236903	9236903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaacgattaaatgtgaccCgcagatggaaaaagctttat	8	7	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:9236903C>A	ENST00000305444.2	-	1	723	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAATGTGACCCGCAGATGGAA	0.448																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(724-726)Ggg>Tgg		olfactory receptor, family 7, subfamily G, member 3							101	102	102					19																	9236903		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236903C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.724G>T	19.37:g.9236903C>A	ENSP00000302867:p.Gly242Trp						p.G242W	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	723	-			242					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.724G>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555942	0.45487	.	.	ENSG00000170920	ENST00000305444	T	0.37915	1.17	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.178246	0.26369	U	0.024780	T	0.67468	0.2896	H	0.97587	4.035	0.21499	N	0.999668	D	0.63046	0.992	D	0.70935	0.971	T	0.64373	-0.6423	10	0.87932	D	0	.	5.9236	0.19096	0.0:0.6979:0.1968:0.1053	.	242	Q8NG95	OR7G3_HUMAN	W	242	ENSP00000302867:G242W	ENSP00000302867:G242W	G	-	1	0	OR7G3	9097903	0.000000	0.05858	0.690000	0.30148	0.116000	0.19942	-0.903000	0.04084	2.251000	0.74343	0.551000	0.68910	GGG		0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			5	578	1	0	0.184627	1	0.184627	5	578					A	9236903	C	A	9236903	3	1	16	1	0	0	0	0	1	0	0	0	11266	652	23	3	217	3	OR7G3	19	9236903	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	2855112	9236903	49892080	76	1857											
TYK2	7297	broad.mit.edu	37	chr19	10463185	10463185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggaccagacatctgaCgcatagtagaacttatactc	8	11	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:10463185C>T	ENST00000525621.1	-	23	3724	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	TYK2_ENST00000524462.1_Silent_p.A896A|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.A1081A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1081	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATCTGACGCATAGTAGA	0.637																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3241-3243)gcG>gcA		tyrosine kinase 2							86	85	86					19																	10463185		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463185C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3243G>A	19.37:g.10463185C>T						TYK2_ENST00000524462.1_Silent_p.A896A|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000529422.1_Intron	p.A1081A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3724	-			1081			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.3243G>A	CCDS12236.1																																																																																				0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			15	440	0	0	0	1	0	15	440					T	10463185	C	T	10463185	2	4	16	1	0	0	0	0	0	0	0	1	16864	523	19	1		1	TYK2	19	10463185	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	1226282	10463185	48665798	77	1858											
ZNF433	163059	broad.mit.edu	37	chr19	12125831	12125831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattgcttacatttataCggtttctctccagtgtgagt	7	10	1	1	rs369837478		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:12125831C>T	ENST00000344980.6	-	4	2021	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Silent_p.P582P|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TACATTTATACGGTTTCTCTC	0.448																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1744-1746)ccG>ccA		zinc finger protein 433		C		0,4404		0,0,2202	87	92	90		1851	-2.8	0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF433	NM_001080411.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		617/674	12125831	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125831C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1851G>A	19.37:g.12125831C>T						CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.P617P	p.P582P			Q8N7K0	ZN433_HUMAN			5	2037	-			617					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.1746G>A	CCDS45983.1																																																																																				0.448	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		5	372	0	0	0	1	0	5	372					T	12125831	C	T	12125831	2	4	16	1	0	0	0	0	0	0	0	1	17960	523	19	1		1	ZNF433	19	12125831	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	1662646	12125831	47003152	78	1859											
COPE	11316	broad.mit.edu	37	chr19	19030139	19030140	+	Frame_Shift_Ins	INS	-	-	G													gagccgccggaggccgggccINSgggggccggaggcgccattt					rs546296825		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:19030139_19030140insG	ENST00000262812.4	-	1	66_67	c.18_19insC	c.(16-21)cccggcfs	p.G7fs	COPE_ENST00000349893.4_Frame_Shift_Ins_p.G7fs|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000600932.1_Frame_Shift_Ins_p.G7fs|COPE_ENST00000351079.4_Frame_Shift_Ins_p.G7fs|DDX49_ENST00000247003.4_5'Flank|DDX49_ENST00000438170.2_5'Flank	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	7					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.P6P(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GAGGCCGGGCCGGGGGCCGGAG	0.609																																						ENST00000600932.1																			1	Substitution - coding silent(1)	p.P6P(1)	lung(1)	breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						c.(16-21)ccgcccfs		coatomer protein complex, subunit epsilon																																				SO:0001589	frameshift_variant	11316				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity	g.chr19:19030139_19030140insG	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.19dupC	19.37:g.19030144_19030144dupG	ENSP00000262812:p.Gly7fs					AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000262812.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000351079.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000349893.4_Frame_Shift_Ins_p.P7fs	p.P7fs			O14579	COPE_HUMAN			1	49_50	-			7					A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Frame_Shift_Ins	INS	ENST00000262812.4	37	c.18_19insC	CCDS12387.1																																																																																				0.609	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		7	478						7	478	---	---	---	---	G	19030140	-	G	19030139	7	5	16	1	0	1	1	0	0	0	0	0	3739	652	23	0	947	0	COPE	19	19030139	Frame_Shift_Ins	INS	-	TCGA-2J-AABV-01A-12D-A40W-08	6904308	19030139	40098844	79	1860											
ZNF208	7757	broad.mit.edu	37	chr19	22155559	22155559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactaagggttgaggaccaCttataggctttgccacattc	9	9	0	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:22155559C>T	ENST00000397126.4	-	4	2425	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	759					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCACTTATAGGCTT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2275-2277)aaG>aaA		zinc finger protein 208							30	32	31					19																	22155559		1950	4156	6106	SO:0001819	synonymous_variant	7757							g.chr19:22155559C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2277G>A	19.37:g.22155559C>T						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K759K	NM_007153.3	NP_009084.2					4	2425	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2277G>A	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	332	0	0	0	1	0	6	332					T	22155559	C	T	22155559	2	4	16	1	0	0	0	0	0	0	0	1	17819	564	20	2		2	ZNF208	19	22155559	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	3125420	22155559	36973424	80	1861											
HRC	3270	broad.mit.edu	37	chr19	49657755	49657755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatcatcatcatcgTcatcttcttcatggccttgg	5	13	9	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:49657755T>C	ENST00000252825.4	-	1	926	c.740A>G	c.(739-741)gAc>gGc	p.D247G	HRC_ENST00000595625.1_Missense_Mutation_p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	247	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		atcatcatcgtcatcttcttc	0.507																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(739-741)gAc>gGc		histidine rich calcium binding protein							127	92	104					19																	49657755		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657755T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.740A>G	19.37:g.49657755T>C	ENSP00000252825:p.Asp247Gly					HRC_ENST00000595625.1_Missense_Mutation_p.D247G	p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	926	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	247			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.740A>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	t	7.560	0.664495	0.14710	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.09350	2.99	3.17	2.14	0.27477	.	.	.	.	.	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.21014	T	0.42	.	6.7695	0.23587	0.0:0.1232:0.0:0.8768	.	247	P23327	SRCH_HUMAN	G	247;217	ENSP00000252825:D247G	ENSP00000252825:D247G	D	-	2	0	HRC	54349567	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	-0.119000	0.10676	0.258000	0.21686	-0.758000	0.03466	GAC		0.507	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		4	117	0	0	0	1	0	4	117					C	49657755	T	C	49657755	3	2	16	1	0	0	0	0	1	0	0	0	7382	1667	58	4	1383	4	HRC	19	49657755	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	27502196	49657755	9471228	81	1862											
LRRC4B	94030	broad.mit.edu	37	chr19	51021882	51021882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctccacgatgacgggcGcatagcaggtgaaatgcgac	15	11	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:51021882G>A	ENST00000599957.1	-	3	1285	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	363	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GATGACGGGCGCATAGCAGGT	0.667																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1087-1089)gCg>gTg		leucine rich repeat containing 4B							49	55	53					19																	51021882		2115	4223	6338	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021882G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1088C>T	19.37:g.51021882G>A	ENSP00000471502:p.Ala363Val					LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V	p.A363V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1285	-		all_neural(266;0.131)	363			LRRCT.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1088C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119090	0.56505	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.33216	1.42	3.9	3.9	0.45041	Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.17280	0.0415	L	0.38953	1.18	0.54753	D	0.999983	P	0.48162	0.906	B	0.19946	0.027	T	0.12268	-1.0554	10	0.39692	T	0.17	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	363	Q9NT99	LRC4B_HUMAN	V	363	ENSP00000373853:A363V	ENSP00000373853:A363V	A	-	2	0	LRRC4B	55713694	1.000000	0.71417	0.990000	0.47175	0.943000	0.58893	9.648000	0.98483	2.192000	0.70111	0.561000	0.74099	GCG		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		4	191	0	0	0	1	0	4	191					A	51021882	G	A	51021882	3	1	16	1	0	0	0	0	1	0	0	0	9045	1087	38	1	1057	1	LRRC4B	19	51021882	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	1364127	51021882	8107101	82	1863											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	452						10	452	---	---	---	---	-	54675749	TCC	-	54675747	7	5	16	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2J-AABV-01A-12D-A40W-08	3653865	54675747	4453236	83	1864											
ZHX3	23051	broad.mit.edu	37	chr20	39833205	39833205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccctcaggggtttttgCcagaaaactgcacccactgc	9	14	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr20:39833205C>T	ENST00000309060.3	-	4	767	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	118					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGGTTTTTGCCAGAAAACTG	0.493																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(352-354)Gca>Aca		zinc fingers and homeoboxes 3							98	96	97					20																	39833205		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833205C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.352G>A	20.37:g.39833205C>T	ENSP00000312222:p.Ala118Thr					ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T	p.A118T			Q9H4I2	ZHX3_HUMAN			4	767	-		Myeloproliferative disorder(115;0.00425)	118					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.352G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335660	0.24253	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740	T;T;T;T;T	0.26373	1.74;3.17;3.17;2.97;1.74	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.159420	0.56097	D	0.000037	T	0.22166	0.0534	N	0.20530	0.585	0.38371	D	0.944878	B;B;B;P	0.47545	0.044;0.044;0.296;0.897	B;B;B;P	0.46585	0.047;0.047;0.079;0.521	T	0.01720	-1.1288	10	0.05351	T	0.99	-15.9229	20.6439	0.99570	0.0:1.0:0.0:0.0	.	118;118;118;118	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	T	118	ENSP00000312222:A118T;ENSP00000362360:A118T;ENSP00000442290:A118T;ENSP00000443783:A118T;ENSP00000415498:A118T	ENSP00000312222:A118T	A	-	1	0	ZHX3	39266619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.238000	0.51352	2.884000	0.98904	0.655000	0.94253	GCA		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	470	0	0	0	1	0	5	470					T	39833205	C	T	39833205	3	4	16	1	0	0	0	0	1	0	0	0	17730	739	26	2	2526	2	ZHX3	20	39833205	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		39833205	23192315	84	1865											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503147	45503147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcagccacgtgaccctGgaaccaggggccaaccagat	13	13	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr21:45503147G>A	ENST00000291574.4	+	14	2377	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	734					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACGTGACCCTGGAACCAGGGG	0.572																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2200-2202)ctG>ctA		trafficking protein particle complex 10							108	104	105					21																	45503147		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503147G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2202G>A	21.37:g.45503147G>A							p.L734L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2377	+			734					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2202G>A	CCDS13704.1																																																																																				0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		6	659	0	0	0	1	0	6	659					A	45503147	G	A	45503147	2	1	16	1	0	0	0	0	0	0	0	1	16510	1335	47	2		2	TRAPPC10	21	45503147	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		45503147	2626748	85	1866											
TBX22	50945	broad.mit.edu	37	chrX	79282761	79282761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatccatagattacgAaactaaaaatagaaagaaat	5	4	0	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:79282761A>G	ENST00000373294.5	+	6	833	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	TBX22_ENST00000373291.1_Missense_Mutation_p.K149E|TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000442340.1_Missense_Mutation_p.K149E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	269					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATAGATTACGAAACTAAAAAT	0.348																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(445-447)Aaa>Gaa		T-box 22							37	36	36					X																	79282761		2203	4298	6501	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282761A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.805A>G	X.37:g.79282761A>G	ENSP00000362390:p.Lys269Glu					TBX22_ENST00000373294.5_Missense_Mutation_p.K269E|TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E	p.K149E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			7	935	+			269					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.445A>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487256	0.63962	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	3.75	3.75	0.43078	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.58810	1.83	0.58432	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	D	0.92101	0.5688	10	0.72032	D	0.01	.	10.8307	0.46659	1.0:0.0:0.0:0.0	.	269	Q9Y458	TBX22_HUMAN	E	269;149;269;149	ENSP00000362393:K269E;ENSP00000396394:K149E;ENSP00000362390:K269E;ENSP00000362388:K149E	ENSP00000362388:K149E	K	+	1	0	TBX22	79169417	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	6.266000	0.72540	1.495000	0.48549	0.486000	0.48141	AAA		0.348	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		7	110	0	0	0	1	0	7	110					G	79282761	A	G	79282761	3	3	16	1	0	0	0	0	1	0	0	0	15710	247	9	4	827	4	TBX22	23	79282761	Missense_Mutation	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08		79282761	75987799	86	1867											
MIB2	142678	broad.mit.edu	37	chr1	1560722	1560722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagcccttccagcacGgggacaaggtcaagtgtctg	12	13	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:1560722G>A	ENST00000357210.4	+	7	1168	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	MIB2_ENST00000355826.5_Missense_Mutation_p.G361R|MIB2_ENST00000518681.1_Missense_Mutation_p.G310R|MIB2_ENST00000504599.1_Missense_Mutation_p.G274R|MIB2_ENST00000520777.1_Missense_Mutation_p.G375R|MIB2_ENST00000505820.2_Missense_Mutation_p.G375R|MIB2_ENST00000360522.4_Missense_Mutation_p.G318R|MIB2_ENST00000378712.1_Missense_Mutation_p.G195R|MIB2_ENST00000378710.3_Missense_Mutation_p.G318R|MIB2_ENST00000378708.1_Missense_Mutation_p.G260R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	318					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCCAGCACGGGGACAAGGT	0.701																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(952-954)Ggg>Agg		mindbomb E3 ubiquitin protein ligase 2							17	20	19					1																	1560722		2018	4206	6224	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560722G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.952G>A	1.37:g.1560722G>A	ENSP00000349741:p.Gly318Arg					MIB2_ENST00000378710.3_Missense_Mutation_p.G318R|MIB2_ENST00000504599.1_Missense_Mutation_p.G274R|MIB2_ENST00000520777.1_Missense_Mutation_p.G375R|MIB2_ENST00000355826.5_Missense_Mutation_p.G361R|MIB2_ENST00000378708.1_Missense_Mutation_p.G260R|MIB2_ENST00000518681.1_Missense_Mutation_p.G310R|MIB2_ENST00000360522.4_Missense_Mutation_p.G318R|MIB2_ENST00000378712.1_Missense_Mutation_p.G195R|MIB2_ENST00000505820.2_Missense_Mutation_p.G375R	p.G318R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1168	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	318					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.952G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.825869|2.825869	0.50739|0.50739	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	T;T;T;T;T;T;T;D;T;T|.	0.83673|.	0.14;-0.2;-0.44;0.52;-0.19;0.08;-0.27;-1.75;0.11;0.59|.	4.39|4.39	3.46|3.46	0.39613|0.39613	.|.	0.121426|.	0.56097|.	D|.	0.000037|.	T|T	0.69806|0.69806	0.3152|0.3152	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|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|.	T|T	0.69935|0.69935	-0.5010|-0.5010	10|5	0.87932|.	D|.	0|.	-11.1814|-11.1814	10.7454|10.7454	0.46177|0.46177	0.0938:0.0:0.9062:0.0|0.0938:0.0:0.9062:0.0	.|.	318;195;310;375;304;318|.	Q96AX9-5;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;MIB2_HUMAN|.	R|Q	375;318;318;318;361;310;375;195;274;260|168	ENSP00000428660:G375R;ENSP00000349741:G318R;ENSP00000353713:G318R;ENSP00000367982:G318R;ENSP00000348081:G361R;ENSP00000428264:G310R;ENSP00000426103:G375R;ENSP00000367984:G195R;ENSP00000426128:G274R;ENSP00000367980:G260R|.	ENSP00000348081:G361R|.	G|R	+|+	1|2	0|0	MIB2|MIB2	1550585|1550585	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.057000|0.057000	0.15508|0.15508	6.189000|6.189000	0.72051|0.72051	1.998000|1.998000	0.58463|0.58463	0.305000|0.305000	0.20034|0.20034	GGG|CGG		0.701	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		3	26	0	0	0	1	0	3	26					A	1560722	G	A	1560722	3	1	17	1	0	0	0	0	1	0	0	0	9608	1116	39	1	1149	1	MIB2	1	1560722	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		1560722	247689899	1	1868											
CLCN6	1185	broad.mit.edu	37	chr1	11887250	11887250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagaggagggttcgtcctTctggaaccaagggctcacgt	13	10	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:11887250T>C	ENST00000346436.6	+	10	864	c.812T>C	c.(811-813)tTc>tCc	p.F271S	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.F249S|CLCN6_ENST00000376496.3_Missense_Mutation_p.F271S|CLCN6_ENST00000312413.6_Missense_Mutation_p.F271S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	271					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCGTCCTTCTGGAACCAA	0.547																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(811-813)tTc>tCc		chloride channel, voltage-sensitive 6							74	75	75					1																	11887250		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11887250T>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.812T>C	1.37:g.11887250T>C	ENSP00000234488:p.Phe271Ser					CLCN6_ENST00000376487.3_Missense_Mutation_p.F249S|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.F271S|CLCN6_ENST00000312413.6_Missense_Mutation_p.F271S	p.F271S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	864	+	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)	271					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.812T>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906295	0.92107	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376492	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.41	5.41	0.78517	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97305	0.9933	9	0.87932	D	0	-34.2285	14.6159	0.68547	0.0:0.0:0.0:1.0	.	249;271;271	F8W9R3;P51797-3;P51797	.;.;CLCN6_HUMAN	S	271;271;249;271;271	ENSP00000308367:F271S;ENSP00000234488:F271S;ENSP00000365670:F249S;ENSP00000365679:F271S	ENSP00000308367:F271S	F	+	2	0	CLCN6	11809837	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.676000	0.84012	2.054000	0.61138	0.459000	0.35465	TTC		0.547	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	161	0	0	0	1	0	4	161					C	11887250	T	C	11887250	3	2	17	1	0	0	0	0	1	0	0	0	3476	1783	62	4	860	4	CLCN6	1	11887250	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	10326528	11887250	237363371	2	1869											
HIVEP3	59269	broad.mit.edu	37	chr1	42045587	42045587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacttatgcaccaaccagCgtaaacagaggacctcctat	6	13	0	1	rs139041950	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:42045587C>T	ENST00000372583.1	-	4	5767	c.4882G>A	c.(4882-4884)Gct>Act	p.A1628T	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A1628T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1628T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1628T|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1628					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCAACCAGCGTAAACAGAG	0.478													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22157	0.0		0.0	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4882-4884)Gct>Act		human immunodeficiency virus type I enhancer binding protein 3		C	THR/ALA,THR/ALA	0,4406		0,0,2203	138	114	122		4882,4882	5.7	1	1	dbSNP_134	122	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	1628/2406,1628/2407	42045587	3,13003	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045587C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4882G>A	1.37:g.42045587C>T	ENSP00000361664:p.Ala1628Thr					HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1628T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1628T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1628T	p.A1628T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5896	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1628					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4882G>A	CCDS463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.40	2.821054	0.50633	0.0	3.49E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.09630	2.96;2.99;2.99;2.96	5.65	5.65	0.86999	.	0.000000	0.53938	D	0.000051	T	0.09774	0.0240	L	0.45581	1.43	0.43069	D	0.994707	P;P	0.52463	0.953;0.921	B;B	0.35114	0.196;0.096	T	0.05402	-1.0887	10	0.42905	T	0.14	-6.5514	13.7448	0.62868	0.0:0.9265:0.0:0.0735	.	1628;1628	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1628	ENSP00000361665:A1628T;ENSP00000361664:A1628T;ENSP00000247584:A1628T;ENSP00000410828:A1628T	ENSP00000247584:A1628T	A	-	1	0	HIVEP3	41818174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.729000	0.62008	2.941000	0.99782	0.655000	0.94253	GCT		0.478	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		5	492	0	0	0	1	0	5	492					T	42045587	C	T	42045587	3	4	17	1	0	0	0	0	1	0	0	0	7218	768	27	1	2362	1	HIVEP3	1	42045587	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	30158337	42045587	207205034	3	1870											
PDE4B	5142	broad.mit.edu	37	chr1	66458687	66458687	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttagaacttgagcttcCgagattaccaggaaacagac	9	9	0	4			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:66458687C>T	ENST00000329654.4	+	3	468				PDE4B_ENST00000423207.2_Missense_Mutation_p.P33L|PDE4B_ENST00000371049.3_Intron	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTTGAGCTTCCGAGATTACCA	0.408																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(97-99)cCg>cTg		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						107	102	104					1																	66458687		2203	4300	6503	SO:0001627	intron_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66458687C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.281+74169C>T	1.37:g.66458687C>T						PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	p.P33L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			1	583	+			0					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.98C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023244	0.75275	.	.	ENSG00000184588	ENST00000423207	T	0.71222	-0.55	5.52	5.52	0.82312	.	.	.	.	.	T	0.75737	0.3890	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.73594	-0.3933	9	0.45353	T	0.12	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	38	Q59GM8	.	L	33	ENSP00000392947:P33L	ENSP00000392947:P33L	P	+	2	0	PDE4B	66231275	1.000000	0.71417	0.976000	0.42696	0.685000	0.39939	7.267000	0.78462	2.878000	0.98634	0.650000	0.86243	CCG		0.408	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		5	304	0	0	0	1	0	5	304					T	66458687	C	T	66458687	1	4	17	0	1	0	0	0	0	0	0	0	11682	652	23	1		1	PDE4B	1	66458687	Intron	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	24413100	66458687	182791934	4	1871											
COL24A1	255631	broad.mit.edu	37	chr1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggttgcatttccatgagttCgttagtgtgtagatttgctg	12	5	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					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.E420*(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)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2																			1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(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						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154	130	137					1																	86590761		1866	4104	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590761C>T	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.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1624	-			420					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1258G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		127	185	0	0	0	1	0	127	185					T	86590761	C	T	86590761	3	4	17	1	0	0	0	0	1	0	0	0	3692	893	31	1	4118	1	COL24A1	1	86590761	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	20132074	86590761	162659860	5	1872											
ZNF644	84146	broad.mit.edu	37	chr1	91403123	91403123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaacgcatttctgaaCgaatctctttcttgctgtct	8	9	4	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:91403123C>A	ENST00000370440.1	-	4	3824	c.3607G>T	c.(3607-3609)Gtt>Ttt	p.V1203F	ZNF644_ENST00000337393.5_Missense_Mutation_p.V1203F|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTCTGAACGAATCTCTTT	0.373																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3607-3609)Gtt>Ttt		zinc finger protein 644							120	117	118					1																	91403123		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403123C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3607G>T	1.37:g.91403123C>A	ENSP00000359469:p.Val1203Phe					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.V1203F	p.V1203F			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3824	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1203					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3607G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896860	0.52121	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00605	6.27;6.27	5.89	4.98	0.66077	.	0.424789	0.27871	N	0.017516	T	0.00468	0.0015	N	0.14661	0.345	0.39331	D	0.965418	D	0.69078	0.997	P	0.61397	0.888	T	0.81614	-0.0853	10	0.72032	D	0.01	-8.7804	11.0467	0.47863	0.0:0.8581:0.0:0.1419	.	1203	Q9H582	ZN644_HUMAN	F	1203	ENSP00000359469:V1203F;ENSP00000337008:V1203F	ENSP00000337008:V1203F	V	-	1	0	ZNF644	91175711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.111000	0.50360	1.490000	0.48466	0.655000	0.94253	GTT		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		6	508	1	0	3.59834e-05	1	4.25258e-05	6	508					A	91403123	C	A	91403123	3	1	17	1	0	0	0	0	1	0	0	0	18113	536	19	3	388	3	ZNF644	1	91403123	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4812362	91403123	157847498	6	1873											
AGL	178	broad.mit.edu	37	chr1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatttttccaagtagatGtcaacaaagcggttgagcaa	11	6	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(916-918)Gtc>Atc		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							34	39	37					1																	100336383		2176	4279	6455	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100336383G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.916G>A	1.37:g.100336383G>A	ENSP00000294724:p.Val306Ile					AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I	p.V306I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	7	1394	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	306					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.916G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	g	5.406	0.260007	0.10239	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.34	1.41	0.22369	Glycoside hydrolase, superfamily (1);	0.273612	0.36101	N	0.002797	T	0.60843	0.2300	L	0.39898	1.24	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.011;0.007	T	0.53760	-0.8393	10	0.30078	T	0.28	.	9.6993	0.40175	0.2549:0.0:0.7451:0.0	.	289;290;306	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	306;306;306;306;290;290;289	ENSP00000355106:V306I;ENSP00000359184:V306I;ENSP00000359182:V306I;ENSP00000294724:V306I;ENSP00000354971:V290I;ENSP00000359180:V290I;ENSP00000354635:V289I	ENSP00000294724:V306I	V	+	1	0	AGL	100108971	0.990000	0.36364	0.001000	0.08648	0.123000	0.20343	2.092000	0.41700	0.073000	0.16731	-0.796000	0.03273	GTC		0.303	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		70	137	0	0	0	1	0	70	137					A	100336383	G	A	100336383	3	1	17	1	0	0	0	0	1	0	0	0	384	1377	48	2	1007	2	AGL	1	100336383	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	8933260	100336383	148914238	7	1874											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	9	11	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74	81	78					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		5	335	0	0	0	1	0	5	335					A	114442814	G	A	114442814	3	1	17	1	0	0	0	0	1	0	0	0	751	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	14106431	114442814	134807807	8	1875											
AP4B1	10717	broad.mit.edu	37	chr1	114445373	114445373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctggtttcaggggagcAtatgtgcacatgtacagata	12	6	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Silent_p.Y75Y|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(223-225)taT>taC		adaptor-related protein complex 4, beta 1 subunit							156	127	137					1																	114445373		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445373A>G	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.225T>C	1.37:g.114445373A>G						AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y	p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	505	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	75					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.225T>C	CCDS865.1																																																																																				0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		135	157	0	0	0	1	0	135	157					G	114445373	A	G	114445373	2	3	17	1	0	0	0	0	0	0	0	1	751	224	8	4		4	AP4B1	1	114445373	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	2559	114445373	134805248	9	1876											
NBPF10	100132406	broad.mit.edu	37	chr1	145299839	145299839	+	Frame_Shift_Del	DEL	C	C	-													gaaatcaatgagaaattgcgCccccagctggcagagaagaa							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145299839delC	ENST00000369338.1	+	2	265	c.75delC	c.(73-75)cgcfs	p.R25fs	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Frame_Shift_Del_p.R296fs|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAATTGCGCCCCCAGCTGG	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(886-888)cgfs		neuroblastoma breakpoint family, member 10							15	13	13					1																	145299839		690	1577	2267	SO:0001589	frameshift_variant	100132406							g.chr1:145299839delC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.75delC	1.37:g.145299839delC	ENSP00000358344:p.Arg25fs					NBPF10_ENST00000369338.1_Frame_Shift_Del_p.R25fs|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R296fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	923	+	all_hematologic(923;0.032)		296					Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	ENST00000369338.1	37	c.888delC																																																																																					0.483	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		7	2224						7	2224	---	---	---	---	-	145299839	C	-	145299839	7	5	17	1	0	1	0	1	0	0	0	0	10234	726	26	0	910	0	NBPF10	1	145299839	Frame_Shift_Del	DEL	C	TCGA-2L-AAQA-01A-21D-A38G-08	30854466	145299839	103950782	10	1877											
HFE2	148738	broad.mit.edu	37	chr1	145415543	145415543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagcacaactgctcccGccagggccctacagcccctc	8	20	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145415543G>A	ENST00000336751.5	+	3	600	c.362G>A	c.(361-363)cGc>cAc	p.R121H	HFE2_ENST00000357836.5_Missense_Mutation_p.R8H|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	121					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACTGCTCCCGCCAGGGCCCT	0.711																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(361-363)cGc>cAc		hemochromatosis type 2 (juvenile)							23	26	25					1																	145415543		2203	4298	6501	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415543G>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.362G>A	1.37:g.145415543G>A	ENSP00000337014:p.Arg121His					HFE2_ENST00000357836.5_Missense_Mutation_p.R8H|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.R121H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	600	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		121					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.362G>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196121	0.58126	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97430	-4.38;-4.38	4.62	3.71	0.42584	Repulsive guidance molecule, N-terminal (1);	0.269516	0.28859	N	0.013913	D	0.95376	0.8499	L	0.43152	1.355	0.40229	D	0.977826	D	0.65815	0.995	P	0.60886	0.88	D	0.95071	0.8204	10	0.72032	D	0.01	-14.3566	7.0706	0.25177	0.2007:0.0:0.7993:0.0	.	121	Q6ZVN8	RGMC_HUMAN	H	8;121	ENSP00000350495:R8H;ENSP00000337014:R121H	ENSP00000337014:R121H	R	+	2	0	HFE2	144126900	0.947000	0.32204	0.882000	0.34594	0.414000	0.31173	1.195000	0.32186	1.177000	0.42855	0.558000	0.71614	CGC		0.711	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		6	296	0	0	0	1	0	6	296					A	145415543	G	A	145415543	3	1	17	1	0	0	0	0	1	0	0	0	7112	1087	38	1	368	1	HFE2	1	145415543	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	115704	145415543	103835078	11	1878											
PIAS3	10401	broad.mit.edu	37	chr1	145584023	145584023	+	Frame_Shift_Del	DEL	C	C	-													aaggaggcatctgaggtttgCcccccgccagggtatgggct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145584023delC	ENST00000393045.2	+	10	1344	c.1254delC	c.(1252-1254)tgcfs	p.C418fs	PIAS3_ENST00000369298.1_Frame_Shift_Del_p.C383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAGGTTTGCCCCCCGCCAG	0.502																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tgfs		protein inhibitor of activated STAT, 3							191	200	197					1																	145584023		2203	4300	6503	SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584023delC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1254delC	1.37:g.145584023delC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Del_p.C383fs	p.C418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Del	DEL	ENST00000393045.2	37	c.1254delC	CCDS920.2																																																																																				0.502	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	1896						7	1896	---	---	---	---	-	145584023	C	-	145584023	7	5	17	1	0	1	0	1	0	0	0	0	11919	747	26	0	1292	0	PIAS3	1	145584023	Frame_Shift_Del	DEL	C	TCGA-2L-AAQA-01A-21D-A38G-08	168480	145584023	103666598	12	1879											
PSMB4	5692	broad.mit.edu	37	chr1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggacctcagtcctcggcGttaagttcgagggcggagtg	16	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			AGTCCTCGGCGTTAAGTTCGA	0.592																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(175-177)Gtt>Att		proteasome (prosome, macropain) subunit, beta type, 4							96	97	97					1																	151372491		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372491G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.175G>A	1.37:g.151372491G>A	ENSP00000290541:p.Val59Ile						p.V59I	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	229	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		59					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.175G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166446	0.21621	.	.	ENSG00000159377	ENST00000290541	T	0.28255	1.62	5.34	4.42	0.53409	Proteasome, beta-type subunit, conserved site (1);	0.057731	0.64402	D	0.000001	T	0.04543	0.0124	N	0.03903	-0.33	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.17098	0.012;0.017	T	0.26815	-1.0092	10	0.02654	T	1	-15.3311	14.7134	0.69249	0.0:0.146:0.854:0.0	.	59;59	B4DFL3;P28070	.;PSB4_HUMAN	I	59	ENSP00000290541:V59I	ENSP00000290541:V59I	V	+	1	0	PSMB4	149639115	1.000000	0.71417	0.712000	0.30502	0.997000	0.91878	4.476000	0.60216	1.232000	0.43678	0.561000	0.74099	GTT		0.592	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		5	795	0	0	0	1	0	5	795					A	151372491	G	A	151372491	3	1	17	1	0	0	0	0	1	0	0	0	12726	1145	40	1	181	1	PSMB4	1	151372491	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5788468	151372491	97878130	13	1880											
CELF3	11189	broad.mit.edu	37	chr1	151678723	151678725	+	In_Frame_Del	DEL	TGC	TGC	-													ctctttgctgctgctgctgtTgctgctgctgctgctgctgc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151678723_151678725delTGC	ENST00000290583.4	-	10	1894_1896	c.1101_1103delGCA	c.(1099-1104)cagcaa>caa	p.367_368QQ>Q	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_In_Frame_Del_p.162_163QQ>Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_In_Frame_Del_p.317_318QQ>Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	367	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ctgctgctgttgctgctgctgct	0.66																																						ENST00000290583.4																			1	Substitution - coding silent(1)	p.Q367Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1099-1104)caa>ca		CUGBP, Elav-like family member 3			,,	116,270,51,3719		8,1,1,98,15,0,239,6,38,1672					,,	1.4	1			20	9,589,2,7444		0,1,0,8,25,0,538,0,2,3448	no	codingComplex,codingComplex,codingComplex	CELF3	NM_007185.4,NM_001172649.1,NM_001172648.1	,,	8,2,1,106,40,0,777,6,40,5120	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.459,10.5149,8.5	,,	,,		125,859,53,11163				SO:0001651	inframe_deletion	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151678723_151678725delTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1101_1103delGCA	1.37:g.151678732_151678734delTGC	ENSP00000290583:p.Gln373del					CELF3_ENST00000290585.4_In_Frame_Del_p.QQ321del|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_In_Frame_Del_p.QQ166del|RP11-98D18.1_ENST00000457548.1_RNA	p.QQ371del	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			10	1894_1896	-			371			Gln-rich.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	In_Frame_Del	DEL	ENST00000290583.4	37	c.1101_1103delGCA	CCDS1002.1																																																																																				0.66	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		10	97						10	97	---	---	---	---	-	151678725	TGC	-	151678723	7	5	17	1	0	1	0	1	0	0	0	0	3226	1812	63	0	306	0	CELF3	1	151678723	In_Frame_Del	DEL	TGC	TCGA-2L-AAQA-01A-21D-A38G-08	306232	151678723	97571898	14	1881											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	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.S769S(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)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(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						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	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.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		14	2665	0	0	0	1	0	14	2665					A	152327955	G	A	152327955	2	1	17	1	0	0	0	0	0	0	0	1	5948	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	649232	152327955	96922666	15	1882											
ADAR	103	broad.mit.edu	37	chr1	154574475	154574475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggctccttggctatgacCgtctggtcttaccactccgc	11	14	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154574475C>A	ENST00000368474.4	-	2	842	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(643-645)Ggt>Tgt		adenosine deaminase, RNA-specific							91	96	95					1																	154574475		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574475C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.643G>T	1.37:g.154574475C>A	ENSP00000357459:p.Gly215Cys					ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000368471.3_5'UTR	p.G215C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	842	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		215					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.643G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796722	0.31777	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.13196	2.61;2.62;2.63	2.54	-5.07	0.02938	.	13.364500	0.00447	N	0.000091	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	P;P;P	0.51449	0.854;0.854;0.945	P;P;P	0.50860	0.652;0.652;0.487	T	0.14008	-1.0488	10	0.72032	D	0.01	13.0811	4.3347	0.11080	0.0:0.2519:0.3265:0.4216	.	215;215;215	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	258;215;210	ENSP00000292205:G258C;ENSP00000357459:G215C;ENSP00000431794:G210C	ENSP00000292205:G258C	G	-	1	0	ADAR	152841099	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.602000	0.02079	-1.387000	0.02095	-0.671000	0.03813	GGT		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	966	1	0	1	1	1	6	966					A	154574475	C	A	154574475	3	1	17	1	0	0	0	0	1	0	0	0	281	652	23	3	3093	3	ADAR	1	154574475	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2246520	154574475	94676146	16	1883											
KCNN3	3782	broad.mit.edu	37	chr1	154842330	154842330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggctgctgctgctgTtgctgctgctgctgctgctg	17	10	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154842330T>C	ENST00000271915.4	-	1	426	c.111A>G	c.(109-111)caA>caG	p.Q37Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	37	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgttgctgctgct	0.677																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(109-111)caA>caG		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							8	8	8					1																	154842330		1936	3838	5774	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154842330T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.111A>G	1.37:g.154842330T>C							p.Q37Q	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	426	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		37			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.111A>G	CCDS30880.1																																																																																				0.677	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	107	0	0	0	1	0	5	107					C	154842330	T	C	154842330	2	2	17	1	0	0	0	0	0	0	0	1	8110	1722	60	4		4	KCNN3	1	154842330	Silent	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	267855	154842330	94408291	17	1884											
DAP3	7818	broad.mit.edu	37	chr1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgagagctatttcccGcaccaatgagaatgacccgg	11	12	0	3	rs149919712		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.R50H|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000496863.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(148-150)cGc>cAc		death associated protein 3		G	HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	95	96	96		149,149,,149,149	4.3	1	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	29,29,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign,benign	50/399,50/365,,50/399,50/399	155686900	1,13005	2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155686900G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.149G>A	1.37:g.155686900G>A	ENSP00000357320:p.Arg50His					DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR	p.R50H	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			3	273	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		50					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.149G>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380775	0.42207	0.0	1.16E-4	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.7;0.7;0.73	5.2	4.27	0.50696	.	0.376195	0.29389	N	0.012299	T	0.28466	0.0704	M	0.67397	2.05	0.49389	D	0.999788	B;B;B	0.33883	0.111;0.111;0.43	B;B;B	0.21917	0.008;0.008;0.037	T	0.37753	-0.9692	10	0.62326	D	0.03	-1.3092	10.2787	0.43526	0.1459:0.0:0.8541:0.0	.	50;50;50	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	H	50	ENSP00000357320:R50H;ENSP00000341692:R50H;ENSP00000412605:R50H	ENSP00000341692:R50H	R	+	2	0	DAP3	153953524	0.564000	0.26602	0.971000	0.41717	0.650000	0.38633	2.796000	0.47869	2.698000	0.92095	0.591000	0.81541	CGC		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		6	767	0	0	0	1	0	6	767					A	155686900	G	A	155686900	3	1	17	1	0	0	0	0	1	0	0	0	4245	1087	38	1	155	1	DAP3	1	155686900	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	844570	155686900	93563721	18	1885											
HAPLN2	60484	broad.mit.edu	37	chr1	156593808	156593808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggtatgggcccctgggaGggcgcgccaggatgcggagg	23	9	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:156593808G>T	ENST00000255039.1	+	4	702	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	99	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCCTGGGAGGGCGCGCCAG	0.687																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(295-297)Ggg>Tgg		hyaluronan and proteoglycan link protein 2							16	19	18					1																	156593808		2185	4260	6445	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593808G>T	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.295G>T	1.37:g.156593808G>T	ENSP00000255039:p.Gly99Trp						p.G99W	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	702	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		99			Ig-like V-type.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.295G>T	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	g	9.211	1.030878	0.19590	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.71817	-0.6;-0.6	4.11	3.2	0.36748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.235170	0.05686	N	0.591399	T	0.74928	0.3781	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57573	-0.7788	10	0.72032	D	0.01	-1.4476	9.1243	0.36805	0.0:0.1598:0.6752:0.1649	.	99	Q9GZV7	HPLN2_HUMAN	W	99;72;99	ENSP00000255039:G99W;ENSP00000388835:G99W	ENSP00000255039:G99W	G	+	1	0	HAPLN2	154860432	0.008000	0.16893	0.208000	0.23602	0.038000	0.13279	1.906000	0.39887	1.097000	0.41459	-0.217000	0.12591	GGG		0.687	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		5	111	1	0	5.9392e-07	1	7.11488e-07	5	111					T	156593808	G	T	156593808	3	4	17	1	0	0	0	0	1	0	0	0	6985	1000	35	3	301	3	HAPLN2	1	156593808	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	906908	156593808	92656813	19	1886											
TNR	7143	broad.mit.edu	37	chr1	175331844	175331844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctttcctccctgccccGcacgctgttgaggctgattt	9	16	0	2	rs150401432		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:175331844G>A	ENST00000367674.2	-	14	3517	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	TNR_ENST00000263525.2_Missense_Mutation_p.R937W			Q92752	TENR_HUMAN	tenascin R	937	Fibronectin type-III 7. {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.R937W(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)					TCCCTGCCCCGCACGCTGTTG	0.552																																						ENST00000367674.1																			1	Substitution - Missense(1)	p.R937W(1)	lung(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						c.(2809-2811)Cgg>Tgg		tenascin R							205	169	182					1																	175331844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331844G>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.2809C>T	1.37:g.175331844G>A	ENSP00000356646:p.Arg937Trp					TNR_ENST00000263525.2_Missense_Mutation_p.R937W	p.R937W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			14	3517	-	Renal(580;0.146)		937			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2809C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020752	0.75275	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.54279	0.58;0.58	5.59	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.67953	2.075	0.54753	D	0.99998	D	0.89917	1.0	D	0.79108	0.992	T	0.71441	-0.4592	10	0.52906	T	0.07	.	13.8976	0.63783	0.0:0.0:0.8474:0.1526	.	937	Q92752	TENR_HUMAN	W	937;937;847	ENSP00000356646:R937W;ENSP00000263525:R937W	ENSP00000263525:R937W	R	-	1	2	TNR	173598467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.732000	0.38146	1.340000	0.45581	0.650000	0.86243	CGG		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		6	567	0	0	0	1	0	6	567					A	175331844	G	A	175331844	3	1	17	1	0	0	0	0	1	0	0	0	16390	1086	38	1	1307	1	TNR	1	175331844	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	18738036	175331844	73918777	20	1887											
ASTN1	460	broad.mit.edu	37	chr1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtccgtagggtttgatctCgctgtagcggcaccccaggt	13	11	1	1	rs538221544		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.3	-	23	4004	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1265					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3793-3795)Gag>Aag		astrotactin 1							92	90	91					1																	176833536		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833536C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3793G>A	1.37:g.176833536C>T	ENSP00000356626:p.Glu1265Lys					ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K	p.E1265K			O14525	ASTN1_HUMAN			23	3806	-			1265					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3793G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.600256	0.87055	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14022	2.55;2.54	4.61	4.61	0.57282	.	0.047461	0.85682	D	0.000000	T	0.09774	0.0240	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.33454	0.164	T	0.12218	-1.0556	10	0.87932	D	0	-23.1216	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1257	O14525-2	.	K	1257;1265	ENSP00000354536:E1257K;ENSP00000356626:E1265K	ENSP00000354536:E1257K	E	-	1	0	ASTN1	175100159	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.018000	0.76406	2.282000	0.76494	0.555000	0.69702	GAG		0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		92	592	0	0	0	1	0	92	592					T	176833536	C	T	176833536	3	4	17	1	0	0	0	0	1	0	0	0	1065	893	31	1	119	1	ASTN1	1	176833536	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1501692	176833536	72417085	21	1888											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179851826	179851826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggttctcggacgagccGccagaagtgtacggcgactt	15	10	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:179851826G>A	ENST00000606911.2	+	1	380	c.189G>A	c.(187-189)ccG>ccA	p.P63P	TOR1AIP1_ENST00000435319.4_5'Flank|TOR1AIP1_ENST00000271583.3_Silent_p.P63P|TOR1AIP1_ENST00000528443.2_Silent_p.P63P|RP11-533E19.7_ENST00000610272.1_lincRNA			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	63					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGGACGAGCCGCCAGAAGTGT	0.647																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(187-189)ccG>ccA		torsin A interacting protein 1							31	36	35					1																	179851826		2202	4300	6502	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179851826G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.189G>A	1.37:g.179851826G>A						TOR1AIP1_ENST00000271583.3_Silent_p.P63P	p.P63P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			1	380	+			63					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.189G>A	CCDS1335.1																																																																																				0.647	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		5	252	0	0	0	1	0	5	252					A	179851826	G	A	179851826	2	1	17	1	0	0	0	0	0	0	0	1	16425	1074	38	1		1	TOR1AIP1	1	179851826	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3018290	179851826	69398795	22	1889											
RGL1	23179	broad.mit.edu	37	chr1	183895311	183895311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactttgacttcattttgcGcaaaaagaactccatggaag	8	8	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:183895311G>A	ENST00000360851.3	+	18	2370	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	RGL1_ENST00000536277.1_Missense_Mutation_p.R729H|RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000304685.4_Missense_Mutation_p.R766H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	731	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTCATTTTGCGCAAAAAGAAC	0.453																																						ENST00000304685.3																			1	Substitution - Missense(1)	p.R766H(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2296-2298)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 1							109	104	105					1																	183895311		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895311G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2192G>A	1.37:g.183895311G>A	ENSP00000354097:p.Arg731His					RGL1_ENST00000367531.1_Missense_Mutation_p.R766H|RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000536277.1_Missense_Mutation_p.R729H|RGL1_ENST00000360851.3_Missense_Mutation_p.R731H	p.R766H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			19	2758	+			731					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2297G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.663003	0.88251	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.37	5.37	0.77165	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.984;0.984;0.984	T	0.41840	-0.9486	10	0.87932	D	0	.	12.4607	0.55731	0.0779:0.0:0.9221:0.0	.	702;729;731;766	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	766;766;729;731;702	ENSP00000303192:R766H;ENSP00000356501:R766H;ENSP00000438662:R729H;ENSP00000354097:R731H;ENSP00000437355:R702H	ENSP00000303192:R766H	R	+	2	0	RGL1	182161934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.666000	0.90696	0.650000	0.86243	CGC		0.453	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		6	826	0	0	0	1	0	6	826					A	183895311	G	A	183895311	3	1	17	1	0	0	0	0	1	0	0	0	13326	1087	38	1	2367	1	RGL1	1	183895311	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	4043485	183895311	65355310	23	1890											
CDC73	79577	broad.mit.edu	37	chr1	193111146	193111147	+	Frame_Shift_Del	DEL	AG	AG	-													tgacccgagatattgtcagcAgagagagagtatggaggaca					rs145694828|rs80356649		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:193111146_193111147delAG	ENST00000367435.3	+	7	863_864	c.679_680delAG	c.(679-681)agafs	p.R227fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	227	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATTGTCAGCAGAGAGAGAGTA	0.401																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(679-681)afs		cell division cycle 73																																				SO:0001589	frameshift_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111146_193111147delAG	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.679_680delAG	1.37:g.193111154_193111155delAG	ENSP00000356405:p.Arg227fs						p.R227fs	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	863_864	+			227					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Frame_Shift_Del	DEL	ENST00000367435.3	37	c.679_680delAG	CCDS1382.1																																																																																				0.401	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		9	550						9	550	---	---	---	---	-	193111147	AG	-	193111146	7	5	17	1	0	1	0	1	0	0	0	0	3094	180	7	0	705	0	CDC73	1	193111146	Frame_Shift_Del	DEL	AG	TCGA-2L-AAQA-01A-21D-A38G-08	9215835	193111146	56139475	24	1891											
ATP2B4	493	broad.mit.edu	37	chr1	203678532	203678532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggattatcaggctgtgcGtaatgaagtgcccgaggaga	15	7	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:203678532G>A	ENST00000357681.5	+	11	2784	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R542H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R554H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	554					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGCTGTGCGTAATGAAGTG	0.547																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1660-1662)cGt>cAt		ATPase, Ca++ transporting, plasma membrane 4							102	87	92					1																	203678532		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678532G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1661G>A	1.37:g.203678532G>A	ENSP00000350310:p.Arg554His					ATP2B4_ENST00000391954.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R542H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R554H	p.R554H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2784	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		554					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1661G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727528	0.48833	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.50627	D	0.000113	D	0.98128	0.9382	M	0.84219	2.685	0.80722	D	1	B;D;B	0.76494	0.355;0.999;0.169	B;D;B	0.68039	0.089;0.955;0.029	D	0.98888	1.0772	10	0.87932	D	0	-12.7344	19.0349	0.92972	0.0:0.0:1.0:0.0	.	554;554;554	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	554;554;542;554;554	ENSP00000350310:R554H;ENSP00000356187:R554H;ENSP00000356188:R542H;ENSP00000375816:R554H;ENSP00000340930:R554H	ENSP00000340930:R554H	R	+	2	0	ATP2B4	201945155	1.000000	0.71417	0.694000	0.30210	0.036000	0.12997	9.828000	0.99408	2.590000	0.87494	0.563000	0.77884	CGT		0.547	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		5	448	0	0	0	1	0	5	448					A	203678532	G	A	203678532	3	1	17	1	0	0	0	0	1	0	0	0	1143	1145	40	1	1699	1	ATP2B4	1	203678532	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10567386	203678532	45572089	25	1892											
PIK3C2B	5287	broad.mit.edu	37	chr1	204412620	204412621	+	Frame_Shift_Ins	INS	-	-	T													tgacaagccagcactggcggINSttaaactcttctctcagccc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:204412620_204412621insT	ENST00000367187.3	-	20	3528_3529	c.2972_2973insA	c.(2971-2973)aacfs	p.N991fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.N963fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	991					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)			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)			AGCACTGGCGGTTAAACTCTTC	0.604																																						ENST00000367187.3																			0				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						c.(2971-2973)acgfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	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.chr1:204412620_204412621insT	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.2973dupA	1.37:g.204412622_204412622dupT	ENSP00000356155:p.Asn991fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.T963fs	p.T991fs	NM_002646.3	NP_002637.3	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)		20	3528_3529	-	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)		991					O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.2972_2973insA	CCDS1446.1																																																																																				0.604	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		7	1499						7	1499	---	---	---	---	T	204412621	-	T	204412620	7	5	17	1	0	1	1	0	0	0	0	0	11952	1252	44	0	1991	0	PIK3C2B	1	204412620	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	734088	204412620	44838001	26	1893											
CAPN2	824	broad.mit.edu	37	chr1	223943299	223943299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcagaagcaccgacggcGgcagaggaagatgggcgagg	17	9	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223943299G>A	ENST00000295006.5	+	10	1562	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	CAPN2_ENST00000433674.2_Missense_Mutation_p.R340Q	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	418	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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CACCGACGGCGGCAGAGGAAG	0.612																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1252-1254)cGg>cAg		calpain 2, (m/II) large subunit							129	101	111					1																	223943299		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943299G>A	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.1253G>A	1.37:g.223943299G>A	ENSP00000295006:p.Arg418Gln					CAPN2_ENST00000433674.2_Missense_Mutation_p.R340Q	p.R418Q	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1562	+			418			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1253G>A	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208065	0.58343	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.87256	-2.23;-2.23	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.315914	0.31301	N	0.007898	T	0.80773	0.4687	M	0.64676	1.99	0.46185	D	0.998917	B;D	0.53462	0.389;0.96	B;B	0.35607	0.026;0.206	T	0.81046	-0.1110	10	0.46703	T	0.11	.	6.9595	0.24590	0.2108:0.0:0.7892:0.0	.	340;418	B7ZA96;P17655	.;CAN2_HUMAN	Q	340;418;447	ENSP00000413158:R340Q;ENSP00000295006:R418Q	ENSP00000295006:R418Q	R	+	2	0	CAPN2	222009922	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.344000	0.44010	2.507000	0.84556	0.563000	0.77884	CGG		0.612	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		4	264	0	0	0	1	0	4	264					A	223943299	G	A	223943299	3	1	17	1	0	0	0	0	1	0	0	0	2634	1116	39	1	1298	1	CAPN2	1	223943299	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	19530679	223943299	25307322	27	1894											
TP53BP2	7159	broad.mit.edu	37	chr1	223968597	223968597	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttaattcttgggtacagCtgcaagagagtttaaaaaat	10	4	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223968597C>A	ENST00000343537.7	-	18	3655		c.e18-1		TP53BP2_ENST00000391879.2_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site|TP53BP2_ENST00000391878.2_Splice_Site	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2						cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGGTACAGCTGCAAGAGAG	0.333																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.e19-1		tumor protein p53 binding protein, 2							85	86	85					1																	223968597		2203	4300	6503	SO:0001630	splice_region_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223968597C>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3364-1G>T	1.37:g.223968597C>A						TP53BP2_ENST00000343537.7_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site|TP53BP2_ENST00000391879.2_Splice_Site		NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	19	3745	-								B4DG66|Q12892|Q86X75|Q96KQ3	Splice_Site	SNP	ENST00000343537.7	37		CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791570	0.70452	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP2	222035220	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	.		0.333	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	Intron	5	446	1	0	1	1	1	5	446					A	223968597	C	A	223968597	5	1	17	1	0	0	0	0	0	0	1	0	16437	811	28	3	45	3	TP53BP2	1	223968597	Splice_Site	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	25298	223968597	25282024	28	1895											
CABC1	56997	broad.mit.edu	37	chr1	227170426	227170426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagatcttcgagcgggtgCggcagagcgcggacttcatg	15	10	2	2	rs140246430		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:227170426C>T	ENST00000366779.1	+	12	3672	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ADCK3_ENST00000366777.3_Missense_Mutation_p.R301W|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Missense_Mutation_p.R22W|ADCK3_ENST00000366778.1_Missense_Mutation_p.R249W|ADCK3_ENST00000458507.2_Missense_Mutation_p.R22W			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	301					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CGAGCGGGTGCGGCAGAGCGC	0.612																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(901-903)Cgg>Tgg		aarF domain containing kinase 3		C	TRP/ARG	0,4406		0,0,2203	95	84	88		901	-6.8	1	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCK3	NM_020247.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	301/648	227170426	1,13005	2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227170426C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.901C>T	1.37:g.227170426C>T	ENSP00000355741:p.Arg301Trp					ADCK3_ENST00000433743.2_Missense_Mutation_p.R22W|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.R249W|ADCK3_ENST00000366777.3_Missense_Mutation_p.R301W|ADCK3_ENST00000366776.1_Missense_Mutation_p.R226W|ADCK3_ENST00000366775.1_Missense_Mutation_p.R146W|ADCK3_ENST00000458507.2_Missense_Mutation_p.R22W	p.R301W			Q8NI60	ADCK3_HUMAN			12	3672	+			301					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.901C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189917	0.78789	0.0	1.16E-4	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.76316	-0.79;-0.77;-0.79;-0.94;-0.56;-0.93;-1.01	5.57	-6.77	0.01727	.	0.049318	0.85682	D	0.000000	D	0.91402	0.7287	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.991	D	0.91124	0.4932	10	0.87932	D	0	-39.386	23.2457	0.99981	0.1551:0.8449:0.0:0.0	.	22;301	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	W	301;249;301;226;22;146;252;22	ENSP00000355741:R301W;ENSP00000355740:R249W;ENSP00000355739:R301W;ENSP00000355738:R226W;ENSP00000403704:R22W;ENSP00000355737:R146W;ENSP00000404550:R22W	ENSP00000355737:R146W	R	+	1	2	ADCK3	225237049	0.287000	0.24315	0.960000	0.40013	0.636000	0.38137	0.716000	0.25836	-1.011000	0.03391	-0.397000	0.06425	CGG		0.612	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		6	563	0	0	0	1	0	6	563					T	227170426	C	T	227170426	3	4	17	1	0	0	0	0	1	0	0	0	2534	759	27	1	923	1	CABC1	1	227170426	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3201829	227170426	22080195	29	1896											
GNPAT	8443	broad.mit.edu	37	chr1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgaatgtcgggtgccTttttcatgcggcgtaccttt	11	10	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(619-621)Ttt>Ctt		glyceronephosphate O-acyltransferase							118	122	120					1																	231401089		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401089T>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.619T>C	1.37:g.231401089T>C	ENSP00000355607:p.Phe207Leu					GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	p.F207L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			5	788	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	207					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.619T>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035589	0.93630	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.25	5.25	0.73442	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97350	0.9963	10	0.87932	D	0	.	15.4621	0.75366	0.0:0.0:0.0:1.0	.	146;207	B4DNM9;O15228	.;GNPAT_HUMAN	L	146;207;146;197	ENSP00000402811:F146L;ENSP00000355607:F207L;ENSP00000355606:F146L;ENSP00000411640:F197L	ENSP00000355606:F146L	F	+	1	0	GNPAT	229467712	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.630000	0.83225	2.120000	0.65058	0.383000	0.25322	TTT		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			6	771	0	0	0	1	0	6	771					C	231401089	T	C	231401089	3	2	17	1	0	0	0	0	1	0	0	0	6570	1609	56	4	637	4	GNPAT	1	231401089	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	4230663	231401089	17849532	30	1897											
RBM34	23029	broad.mit.edu	37	chr1	235323838	235323838	+	Frame_Shift_Del	DEL	T	T	-													ttaccaacctgtctgccaacTttttttctgcgttagtgtgt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:235323838delT	ENST00000408888.3	-	3	583	c.353delA	c.(352-354)aagfs	p.K118fs	RBM34_ENST00000366606.3_Frame_Shift_Del_p.K113fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	118						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GTCTGCCAACTTTTTTTCTGC	0.343																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(352-354)agfs		RNA binding motif protein 34							200	177	184					1																	235323838		1831	4078	5909	SO:0001589	frameshift_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235323838delT		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.353delA	1.37:g.235323838delT	ENSP00000386226:p.Lys118fs					RBM34_ENST00000366606.3_Frame_Shift_Del_p.K113fs	p.K118fs			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		3	583	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	118					A8K8J7|Q8N2Z8|Q9H5A1	Frame_Shift_Del	DEL	ENST00000408888.3	37	c.353delA	CCDS41477.2																																																																																				0.343	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		7	1496						7	1496	---	---	---	---	-	235323838	T	-	235323838	7	5	17	1	0	1	0	1	0	0	0	0	13181	1609	56	0	996	0	RBM34	1	235323838	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	3922749	235323838	13926783	31	1898											
FMN2	56776	broad.mit.edu	37	chr1	240371624	240371624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccccctctacccggagCgggcataccccctccgcccc	7	24	1	0	rs190820789		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:240371624C>T	ENST00000319653.9	+	5	3742	c.3512C>T	c.(3511-3513)gCg>gTg	p.A1171V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1171	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3511-3513)gCg>gTg		formin 2							7	9	8					1																	240371624		2164	4237	6401	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371624C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3512C>T	1.37:g.240371624C>T	ENSP00000318884:p.Ala1171Val						p.A1171V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3742	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1171			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3512C>T	CCDS31069.2	69	0.03159340659340659	22	0.044715447154471545	9	0.024861878453038673	16	0.027972027972027972	22	0.029023746701846966	c	5.600	0.295454	0.10622	.	.	ENSG00000155816	ENST00000319653	T	0.60040	0.22	2.84	-3.44	0.04796	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	.	.	.	.	T	0.11367	0.0277	L	0.33137	0.985	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.11012	-1.0605	8	.	.	.	.	5.5532	0.17101	0.0:0.3289:0.1447:0.5263	.	1171	Q9NZ56	FMN2_HUMAN	V	1171	ENSP00000318884:A1171V	.	A	+	2	0	FMN2	238438247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.453000	0.00465	-0.393000	0.07739	-1.200000	0.01667	GCG		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	79	0	0	0	1	0	4	79					T	240371624	C	T	240371624	3	4	17	1	0	0	0	0	1	0	0	0	5975	768	27	1	3530	1	FMN2	1	240371624	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	5047786	240371624	8878997	32	1899											
OR14C36	127066	broad.mit.edu	37	chr1	248512383	248512384	+	Frame_Shift_Ins	INS	-	-	T													agctcaggtcttcctcgtggINSttttttttgtatatgtggag							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:248512383_248512384insT	ENST00000317861.1	+	1	307_308	c.307_308insT	c.(307-309)gttfs	p.V103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCCTCGTGGTTTTTTTTGTA	0.48																																						ENST00000317861.1																			1	Deletion - Frameshift(1)	p.F105fs*28(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(307-309)tttfs		olfactory receptor, family 14, subfamily C, member 36				1,4261		0,1,2130						-6.8	0			63	1,8243		0,1,4121	no	frameshift	OR14C36	NM_001001918.1		0,2,6251	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12504				SO:0001589	frameshift_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512383_248512384insT	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.315dupT	1.37:g.248512391_248512391dupT	ENSP00000324534:p.Val103fs						p.F103fs	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	307_308	+			103					Q6IEZ6	Frame_Shift_Ins	INS	ENST00000317861.1	37	c.307_308insT	CCDS31112.1																																																																																				0.48	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		7	418						7	418	---	---	---	---	T	248512384	-	T	248512383	7	5	17	1	0	1	1	0	0	0	0	0	10988	1261	44	0	309	0	OR14C36	1	248512383	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	8140759	248512383	738238	33	1900											
TRIB2	28951	broad.mit.edu	37	chr2	12858610	12858610	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcgcattgcgtttcTtgtatcgggaaatacttatt	8	7	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000405331.3	+	1	247	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Silent_p.S59S|RP11-333O1.1_ENST00000569860.1_lincRNA					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(175-177)tcT>tcG		tribbles pseudokinase 2							77	82	80					2																	12858610		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858610T>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.177T>G	2.37:g.12858610T>G			OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.S59S	p.S59S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			1	1596	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59						Silent	SNP	ENST00000405331.3	37	c.177T>G																																																																																					0.567	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		143	367	0	0	0	1	0	143	367					G	12858610	T	G	12858610	2	3	17	1	0	0	0	0	0	0	0	1	16536	1596	56	4		4	TRIB2	2	12858610	Silent	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08		12858610	230340763	34	1901											
OTOF	9381	broad.mit.edu	37	chr2	26682924	26682924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggattttcttgaccaggtagCcaggcacagagtagaggaac	13	8	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:26682924C>A	ENST00000272371.2	-	46	6089	c.5963G>T	c.(5962-5964)gGc>gTc	p.G1988V	OTOF_ENST00000402415.3_Missense_Mutation_p.G1298V|OTOF_ENST00000338581.6_Missense_Mutation_p.G1221V|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000403946.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1988					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)			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)					GACCAGGTAGCCAGGCACAGA	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(5962-5964)gGc>gTc		otoferlin							46	37	40					2																	26682924		2195	4292	6487	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.chr2:26682924C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5963G>T	2.37:g.26682924C>A	ENSP00000272371:p.Gly1988Val					OTOF_ENST00000403946.3_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.G1298V|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000338581.6_Missense_Mutation_p.G1221V	p.G1988V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			46	6089	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1988					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5963G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.264818	0.80358	.	.	ENSG00000115155	ENST00000338581;ENST00000402415;ENST00000272371	T;T;T	0.81163	-1.2;-1.2;-1.46	4.64	4.64	0.57946	.	0.049479	0.85682	D	0.000000	D	0.89829	0.6828	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.998;0.999	D	0.91563	0.5266	10	0.87932	D	0	-24.121	16.2659	0.82579	0.0:1.0:0.0:0.0	.	1988;1298;1221	Q9HC10;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.	V	1221;1298;1988	ENSP00000345137:G1221V;ENSP00000383906:G1298V;ENSP00000272371:G1988V	ENSP00000272371:G1988V	G	-	2	0	OTOF	26536428	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.651000	0.83577	2.131000	0.65755	0.457000	0.33378	GGC		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			3	23	1	0	6.4e-05	1	7.488e-05	3	23					A	26682924	C	A	26682924	3	1	17	1	0	0	0	0	1	0	0	0	11345	739	26	3	219	3	OTOF	2	26682924	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	13824314	26682924	216516449	35	1902											
ZNF513	130557	broad.mit.edu	37	chr2	27601854	27601854	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactctccgcacttagtgcCcggccgcccccagactcatc	7	20	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27601854C>A	ENST00000323703.6	-	3	477	c.279G>T	c.(277-279)cgG>cgT	p.R93R	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.R31R	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	93	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTTAGTGCCCGGCCGCCCC	0.647																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(277-279)cgG>cgT		zinc finger protein 513							16	20	19					2																	27601854		2128	4165	6293	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601854C>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.279G>T	2.37:g.27601854C>A						ZNF513_ENST00000407879.1_Silent_p.R31R|ZNF513_ENST00000491924.1_5'UTR	p.R93R	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	477	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		93			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.279G>T	CCDS1751.1																																																																																				0.647	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		4	171	1	0	0.00909568	1	0.0101999	4	171					A	27601854	C	A	27601854	2	1	17	1	0	0	0	0	0	0	0	1	18011	610	22	3		3	ZNF513	2	27601854	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	918930	27601854	215597519	36	1903											
PPM1G	5496	broad.mit.edu	37	chr2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcctgcctcagtcccaCgttccgagttggaggaaaag	12	12	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(658-660)cGt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							136	117	123					2																	27607706		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27607706C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.659G>A	2.37:g.27607706C>T	ENSP00000342778:p.Arg220His					PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			5	923	-	Acute lymphoblastic leukemia(172;0.155)		220						Missense_Mutation	SNP	ENST00000344034.4	37	c.659G>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335465	0.24253	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.44083	0.93;0.93	5.75	2.95	0.34219	Protein phosphatase 2C-like (3);	0.608394	0.16245	N	0.222966	T	0.27663	0.0680	L	0.36672	1.1	0.27600	N	0.948996	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	0.2289	5.1636	0.15073	0.0:0.5481:0.1408:0.3111	.	220	O15355	PPM1G_HUMAN	H	220;220;203	ENSP00000342778:R220H;ENSP00000264714:R220H	ENSP00000342778:R220H	R	-	2	0	PPM1G	27461210	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	1.019000	0.30014	0.348000	0.23949	0.655000	0.94253	CGT		0.572	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		16	393	0	0	0	1	0	16	393					T	27607706	C	T	27607706	3	4	17	1	0	0	0	0	1	0	0	0	12387	536	19	1	1005	1	PPM1G	2	27607706	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	5852	27607706	215591667	37	1904											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27888028	27888028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacagttgaaggaattgcGcaagcagcagcaaatattgt	10	7	0	1	rs142838727		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27888028G>A	ENST00000326019.6	+	2	1169	c.887G>A	c.(886-888)cGc>cAc	p.R296H	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	296						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAGGAATTGCGCAAGCAGCAG	0.413																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(886-888)cGc>cAc		solute carrier family 4 (anion exchanger), member 1, adaptor protein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	143	152	149		887	5.5	1	2	dbSNP_134	149	1,8599		0,1,4299	no	missense	SLC4A1AP	NM_018158.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	296/797	27888028	2,13004	2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27888028G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.887G>A	2.37:g.27888028G>A	ENSP00000323837:p.Arg296His						p.R296H	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			2	1169	+	Acute lymphoblastic leukemia(172;0.155)		296					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.887G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370646	0.61624	2.27E-4	1.16E-4	ENSG00000163798	ENST00000326019	T	0.35605	1.3	5.49	5.49	0.81192	.	0.109679	0.64402	D	0.000006	T	0.33789	0.0875	M	0.64997	1.995	0.58432	D	0.999994	P	0.52463	0.953	B	0.37833	0.259	T	0.26849	-1.0091	10	0.49607	T	0.09	-10.582	12.6966	0.57008	0.0752:0.0:0.9248:0.0	.	296	Q9BWU0	NADAP_HUMAN	H	296	ENSP00000323837:R296H	ENSP00000323837:R296H	R	+	2	0	SLC4A1AP	27741532	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	4.675000	0.61619	2.575000	0.86900	0.462000	0.41574	CGC		0.413	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		5	522	0	0	0	1	0	5	522					A	27888028	G	A	27888028	3	1	17	1	0	0	0	0	1	0	0	0	14703	1087	38	1	893	1	SLC4A1AP	2	27888028	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	280322	27888028	215311345	38	1905											
SIX2	10736	broad.mit.edu	37	chr2	45233480	45233480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcagcccagggggcggCgggctgaggagcagtgcggg	23	10	0	1	rs146943650	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.0					ENST00000303077.6																			1	Substitution - coding silent(1)	p.P235P(1)	pancreas(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(703-705)ccG>ccA		SIX homeobox 2		C		11,4395	17.9+/-39.9	0,11,2192	57	63	61		705	3	1	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIX2	NM_016932.4		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		235/292	45233480	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233480C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.705G>A	2.37:g.45233480C>T							p.P235P	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	1024	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	235					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.705G>A	CCDS1822.1																																																																																				0.706	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			6	415	0	0	0	1	0	6	415					T	45233480	C	T	45233480	2	4	17	1	0	0	0	0	0	0	0	1	14397	755	27	1		1	SIX2	2	45233480	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	17345452	45233480	197965893	39	1906											
REL	5966	broad.mit.edu	37	chr2	61145358	61145358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcagaattaaggatttgtCgtgtaaacaagaattgtgga	11	4	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:61145358C>A	ENST00000295025.8	+	6	888	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	REL_ENST00000394479.3_Missense_Mutation_p.R190S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	190	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGGATTTGTCGTGTAAACAA	0.299			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(568-570)Cgt>Agt		v-rel avian reticuloendotheliosis viral oncogene homolog							55	57	56					2																	61145358		2203	4297	6500	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61145358C>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.568C>A	2.37:g.61145358C>A	ENSP00000295025:p.Arg190Ser					REL_ENST00000394479.3_Missense_Mutation_p.R190S	p.R190S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		6	888	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	190			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.568C>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975340	0.92919	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.35973	1.28;1.28	5.41	5.41	0.78517	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66666	-0.5866	10	0.87932	D	0	-3.2497	19.1998	0.93707	0.0:1.0:0.0:0.0	.	190;190	Q17RU2;Q04864	.;REL_HUMAN	S	190	ENSP00000295025:R190S;ENSP00000377989:R190S	ENSP00000295025:R190S	R	+	1	0	REL	60998862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.071000	0.71229	2.520000	0.84964	0.650000	0.86243	CGT		0.299	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		4	254	1	0	1	1	1	4	254					A	61145358	C	A	61145358	3	1	17	1	0	0	0	0	1	0	0	0	13265	884	31	3	590	3	REL	2	61145358	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	15911878	61145358	182054015	40	1907											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73303156	73303156	+	Frame_Shift_Del	DEL	G	G	-													gtccaccatctggccagcctGgggggcctgggtcacaggct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73303156delG	ENST00000258098.6	-	4	1963	c.1723delC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGGCCAGCCTGGGGGGCCTGG	0.602																																						ENST00000258098.6																			1	Deletion - Frameshift(1)	p.Q575fs*11(1)	lung(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1723-1725)agfs		RAB11 family interacting protein 5 (class I)							122	128	126					2																	73303156		2203	4300	6503	SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303156delG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1723delC	2.37:g.73303156delG	ENSP00000258098:p.Gln575fs					RAB11FIP5_ENST00000493523.2_5'UTR	p.Q575fs	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			4	1963	-			575					O94939|Q9P0M1	Frame_Shift_Del	DEL	ENST00000258098.6	37	c.1723delC	CCDS1923.1																																																																																				0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		8	1151						8	1151	---	---	---	---	-	73303156	G	-	73303156	7	5	17	1	0	1	0	1	0	0	0	0	12947	1357	47	0	246	0	RAB11FIP5	2	73303156	Frame_Shift_Del	DEL	G	TCGA-2L-AAQA-01A-21D-A38G-08	12157798	73303156	169896217	41	1908											
SMYD5	10322	broad.mit.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-													cctcagaagaggaagaggaaGaggaggaggaggaggaagga							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		9	443						9	443	---	---	---	---	-	73453011	GAG	-	73453009	7	5	17	1	0	1	0	1	0	0	0	0	14875	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-2L-AAQA-01A-21D-A38G-08	149853	73453009	169746364	42	1909											
C2orf7	84279	broad.mit.edu	37	chr2	73457283	73457283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtggctgtgaagatGtatcgaatgtccccaggact	14	8	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73457283G>A	ENST00000258083.2	-	2	193	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	42						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CTGTGAAGATGTATCGAATGT	0.488																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(124-126)taC>taT		protease-associated domain containing 1							81	74	76					2																	73457283		2203	4300	6503	SO:0001819	synonymous_variant	84279					extracellular region		g.chr2:73457283G>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.126C>T	2.37:g.73457283G>A						PRADC1_ENST00000480093.1_5'UTR	p.Y42Y	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			2	193	-			42					Q2Z1P2	Silent	SNP	ENST00000258083.2	37	c.126C>T	CCDS1924.1																																																																																				0.488	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		61	178	0	0	0	1	0	61	178					A	73457283	G	A	73457283	2	1	17	1	0	0	0	0	0	0	0	1	2196	1372	48	2		2	C2orf7	2	73457283	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	4274	73457283	169742090	43	1910											
DCTN1	1639	broad.mit.edu	37	chr2	74598276	74598276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtttctcctccaggtcccGcacctgagcccttagtccct	7	17	1	1	rs371723224		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:74598276G>A	ENST00000361874.3	-	9	990	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	DCTN1_ENST00000409567.3_Missense_Mutation_p.R205W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R91W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409240.1_Missense_Mutation_p.R188W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R208W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R91W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	225					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGGTCCCGCACCTGAGCC	0.557																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(673-675)Cgg>Tgg		dynactin 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	208	215	213		613,271,562,652,673,271	4.9	1	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	205/1254,91/1140,188/1237,218/1272,225/1279,91/1145	74598276	1,13005	2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598276G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.673C>T	2.37:g.74598276G>A	ENSP00000354791:p.Arg225Trp					DCTN1_ENST00000409240.1_Missense_Mutation_p.R188W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R91W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R91W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R208W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R205W	p.R225W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	990	-			225					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.673C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344297	0.82022	0.0	1.16E-4	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78481	-0.77;-0.96;-0.76;-0.76;-1.18;-0.96;-0.96	5.76	4.87	0.63330	.	0.000000	0.39834	N	0.001246	D	0.83649	0.5300	L	0.55481	1.735	0.47214	D	0.999358	D;D;D;D;D;D	0.76494	0.997;0.998;0.994;0.999;0.999;0.997	P;P;B;D;D;P	0.65140	0.711;0.849;0.353;0.918;0.932;0.556	D	0.85115	0.0965	10	0.87932	D	0	-11.0239	12.7245	0.57162	0.0:0.0:0.7008:0.2992	.	205;188;225;218;91;91	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	W	225;218;208;91;91;188;208;205	ENSP00000354791:R225W;ENSP00000377571:R218W;ENSP00000384844:R91W;ENSP00000387270:R91W;ENSP00000386406:R188W;ENSP00000387327:R208W;ENSP00000386843:R205W	ENSP00000354791:R225W	R	-	1	2	DCTN1	74451784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	1.393000	0.46605	0.655000	0.94253	CGG		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		8	1288	0	0	0	1	0	8	1288					A	74598276	G	A	74598276	3	1	17	1	0	0	0	0	1	0	0	0	4317	1086	38	1	3259	1	DCTN1	2	74598276	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1140993	74598276	168601097	44	1911											
AFF3	3899	broad.mit.edu	37	chr2	100210017	100210017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcctctgatcattcccGgaggaggcagaggcagccac	12	13	3	2	rs377006919		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:100210017G>A	ENST00000409236.2	-	13	2218	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	AFF3_ENST00000317233.4_Silent_p.S702S|AFF3_ENST00000409579.1_Silent_p.S727S|AFF3_ENST00000356421.2_Silent_p.S727S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	702					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCATTCCCGGAGGAGGCAG	0.627																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2104-2106)tcC>tcT		AF4/FMR2 family, member 3							54	59	57					2																	100210017		2203	4295	6498	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210017G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2106C>T	2.37:g.100210017G>A						AFF3_ENST00000356421.2_Silent_p.S727S|AFF3_ENST00000409579.1_Silent_p.S727S|AFF3_ENST00000409236.1_Silent_p.S702S	p.S702S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2341	-			702					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2106C>T	CCDS42723.1																																																																																				0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		6	612	0	0	0	1	0	6	612					A	100210017	G	A	100210017	2	1	17	1	0	0	0	0	0	0	0	1	358	1103	39	1		1	AFF3	2	100210017	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	25611741	100210017	142989356	45	1912											
UXS1	80146	broad.mit.edu	37	chr2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttctttacggaagtagtGaattgctttgtttaaacctt	9	5	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000409501.3	-	15	1222	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	UXS1_ENST00000283148.7_Missense_Mutation_p.H394Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1180-1182)Cac>Tac		UDP-glucuronate decarboxylase 1							219	208	212					2																	106710580		1960	4143	6103	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710580G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1165C>T	2.37:g.106710580G>A	ENSP00000387019:p.His389Tyr					UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y	p.H394Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			15	1277	-			389					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1180C>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287260	0.59867	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	5.68	0.88126	.	0.046027	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43923	1.385	0.80722	D	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.14578	0.011;0.005;0.008	T	0.51748	-0.8666	10	0.72032	D	0.01	-10.5314	19.7704	0.96361	0.0:0.0:1.0:0.0	.	394;389;394	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	Y	394;332;389;221	ENSP00000283148:H394Y;ENSP00000438265:H332Y;ENSP00000387019:H389Y;ENSP00000387096:H221Y	ENSP00000283148:H394Y	H	-	1	0	UXS1	106077012	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.266000	0.95659	2.670000	0.90874	0.563000	0.77884	CAC		0.473	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		80	214	0	0	0	1	0	80	214					A	106710580	G	A	106710580	3	1	17	1	0	0	0	0	1	0	0	0	17163	1290	45	2	101	2	UXS1	2	106710580	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	6500563	106710580	136488793	46	1913											
INHBB	3625	broad.mit.edu	37	chr2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcctcctcccgggtcCgcctatacttcttcatctcc	6	20	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(472-474)Cgc>Tgc		inhibin, beta B							56	60	59					2																	121106698		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106698C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.472C>T	2.37:g.121106698C>T	ENSP00000295228:p.Arg158Cys						p.R158C	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	518	+		Prostate(154;0.122)	158					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.472C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070536	0.55539	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.61751	0.2372	L	0.54323	1.7	0.47698	D	0.999492	B	0.17667	0.023	B	0.12837	0.008	T	0.60667	-0.7218	10	0.59425	D	0.04	-3.9508	12.8184	0.57679	0.1636:0.8364:0.0:0.0	.	158	P09529	INHBB_HUMAN	C	158	ENSP00000295228:R158C	ENSP00000295228:R158C	R	+	1	0	INHBB	120823168	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.726000	0.38085	2.804000	0.96469	0.655000	0.94253	CGC		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			109	282	0	0	0	1	0	109	282					T	121106698	C	T	121106698	3	4	17	1	0	0	0	0	1	0	0	0	7772	652	23	1	478	1	INHBB	2	121106698	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	14396118	121106698	122092675	47	1914											
SCN3A	6328	broad.mit.edu	37	chr2	165972043	165972043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttctcggggtagaacaaCatcaactgtgcttccttcag	8	12	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:165972043C>T	ENST00000360093.3	-	19	3927	c.3436G>A	c.(3436-3438)Gtt>Att	p.V1146I	SCN3A_ENST00000283254.7_Missense_Mutation_p.V1146I|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1097I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1146					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTAGAACAACATCAACTGTG	0.398																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3436-3438)Gtt>Att		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						124	117	120					2																	165972043		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165972043C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3436G>A	2.37:g.165972043C>T	ENSP00000353206:p.Val1146Ile					SCN3A_ENST00000409101.3_Missense_Mutation_p.V1097I|SCN3A_ENST00000283254.7_Missense_Mutation_p.V1146I	p.V1146I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			19	3927	-			1146					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3436G>A		.	.	.	.	.	.	.	.	.	.	C	4.189	0.033659	0.08101	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.22	3.39	0.38822	Sodium ion transport-associated (1);	0.263447	0.26911	N	0.021874	T	0.41328	0.1154	N	0.00176	-1.92	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.15052	0.012;0.001;0.001;0.001;0.007	T	0.53634	-0.8411	10	0.02654	T	1	.	5.2327	0.15430	0.0:0.6001:0.0:0.3999	.	1146;1097;1097;1097;1146	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1146;1146;1097;1097	ENSP00000353206:V1146I;ENSP00000283254:V1146I;ENSP00000386726:V1097I;ENSP00000403348:V1097I	ENSP00000283254:V1146I	V	-	1	0	SCN3A	165680289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.916000	0.48813	1.328000	0.45358	0.563000	0.77884	GTT		0.398	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	509	0	0	0	1	0	5	509					T	165972043	C	T	165972043	3	4	17	1	0	0	0	0	1	0	0	0	13968	478	17	2	2606	2	SCN3A	2	165972043	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	44865345	165972043	77227330	48	1915											
ITGA6	3655	broad.mit.edu	37	chr2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgatatggatgggggagatTggagcttttgtgatgggcga	18	3	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000264106.6	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R			P23229	ITA6_HUMAN	integrin, alpha 6	172					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)			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)			TGGGGGAGATTGGAGCTTTTG	0.448																																						ENST00000375221.2																			0				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						c.(514-516)Tgg>Agg		integrin, alpha 6							176	169	171					2																	173333979		2203	4300	6503	SO:0001583	missense	0				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.chr2:173333979T>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.514T>A	2.37:g.173333979T>A	ENSP00000264106:p.Trp172Arg					ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R	p.W172R			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	717	+			172					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.514T>A		.	.	.	.	.	.	.	.	.	.	T	18.32	3.597715	0.66332	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.77406	2.37	0.80722	D	1	B;B;P	0.43578	0.313;0.448;0.811	B;P;P	0.54346	0.279;0.55;0.749	T	0.66748	-0.5845	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172;172	P23229-4;G5E9H1;P23229-2	.;.;.	R	58;58;172;172;172;172;172;172;172	ENSP00000413470:W58R;ENSP00000386614:W58R;ENSP00000264107:W172R;ENSP00000264106:W172R;ENSP00000364369:W172R;ENSP00000341078:W172R;ENSP00000386896:W172R;ENSP00000406694:W172R;ENSP00000394169:W172R	ENSP00000264106:W172R	W	+	1	0	ITGA6	173042225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGG		0.448	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				223	509	0	0	0	1	0	223	509					A	173333979	T	A	173333979	3	1	17	1	0	0	0	0	1	0	0	0	7910	1812	63	5	528	5	ITGA6	2	173333979	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	7361936	173333979	69865394	49	1916											
DNAH7	56171	broad.mit.edu	37	chr2	196722285	196722285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaaacctcatgtcacCaagaagtctcttagctgggc	9	12	3	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:196722285C>A	ENST00000312428.6	-	44	8330	c.8230G>T	c.(8230-8232)Ggt>Tgt	p.G2744C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2744	Stalk. {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)			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						CTCATGTCACCAAGAAGTCTC	0.378																																						ENST00000312428.6																			0				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						c.(8230-8232)Ggt>Tgt		dynein, axonemal, heavy chain 7							83	81	82					2																	196722285		1821	4075	5896	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722285C>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.8230G>T	2.37:g.196722285C>A	ENSP00000311273:p.Gly2744Cys						p.G2744C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			44	8330	-			2744			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8230G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511628	0.85389	.	.	ENSG00000118997	ENST00000312428	T	0.75589	-0.95	5.27	5.27	0.74061	Dynein heavy chain, coiled coil stalk (1);	0.056534	0.64402	D	0.000001	D	0.92021	0.7472	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94793	0.7964	10	0.87932	D	0	.	18.6863	0.91565	0.0:1.0:0.0:0.0	.	2744	Q8WXX0	DYH7_HUMAN	C	2744	ENSP00000311273:G2744C	ENSP00000311273:G2744C	G	-	1	0	DNAH7	196430530	1.000000	0.71417	0.850000	0.33497	0.946000	0.59487	5.893000	0.69798	2.732000	0.93576	0.650000	0.86243	GGT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	576	1	0	1	1	1	7	576					A	196722285	C	A	196722285	3	1	17	1	0	0	0	0	1	0	0	0	4622	594	21	3	3932	3	DNAH7	2	196722285	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	23388306	196722285	46477088	50	1917											
USP37	57695	broad.mit.edu	37	chr2	219330731	219330731	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcaatataaatatctcttActtgctcttgaaggctctga	6	8	3	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:219330731A>T	ENST00000258399.3	-	21	2879		c.e21+1		USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000418019.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AATATCTCTTACTTGCTCTTG	0.403																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.e21+1		ubiquitin specific peptidase 37							143	138	139					2																	219330731		2203	4300	6503	SO:0001630	splice_region_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219330731A>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2466+1T>A	2.37:g.219330731A>T						USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site		NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	21	2879	-		Renal(207;0.0915)						A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37		CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156181	0.78114	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.284	0.73814	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219038975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.242000	0.89818	2.201000	0.70794	0.533000	0.62120	.		0.403	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Intron	6	736	0	0	0	1	0	6	736					T	219330731	A	T	219330731	5	4	17	1	0	0	0	0	0	0	1	0	17122	405	14	5	495	5	USP37	2	219330731	Splice_Site	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	22608446	219330731	23868642	51	1918											
ITPR1	3708	broad.mit.edu	37	chr3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcagaaacatcctccGgaaacagcagccaagaaggg	10	11	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000443694.2	+	22	3025	c.3025G>A	c.(3025-3027)Gga>Aga	p.G1009R	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACATCCTCCGGAAACAGCAG	0.433																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3070-3072)Gga>Aga		inositol 1,4,5-trisphosphate receptor, type 1							61	60	60					3																	4722339		1876	4104	5980	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4722339G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3025G>A	3.37:g.4722339G>A	ENSP00000401671:p.Gly1009Arg					ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R	p.G1024R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	25	3420	+			1024					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3070G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700462	0.48307	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.56	5.56	0.83823	.	0.236966	0.43260	D	0.000598	T	0.50735	0.1633	M	0.69358	2.11	0.80722	D	1	B;B;P	0.36837	0.308;0.311;0.571	B;B;B	0.32090	0.027;0.02;0.14	T	0.50320	-0.8842	10	0.26408	T	0.33	.	17.7004	0.88293	0.0:0.0:1.0:0.0	.	1009;1024;1015	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	1024;1009;1024;1015;1015;1000;1009	ENSP00000306253:G1009R;ENSP00000346595:G1024R;ENSP00000405934:G1015R;ENSP00000349597:G1015R;ENSP00000397885:G1000R;ENSP00000401671:G1009R	ENSP00000306253:G1009R	G	+	1	0	ITPR1	4697339	1.000000	0.71417	0.968000	0.41197	0.959000	0.62525	6.688000	0.74557	2.599000	0.87857	0.591000	0.81541	GGA		0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		65	128	0	0	0	1	0	65	128					A	4722339	G	A	4722339	3	1	17	1	0	0	0	0	1	0	0	0	7950	1117	39	1	3160	1	ITPR1	3	4722339	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		4722339	193300091	52	1919											
FANCD2	2177	broad.mit.edu	37	chr3	10107621	10107621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgctaaagagcgttcattCatgtgttctctcatatttct	6	9	6	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000419585.1	+	25	2504	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000287647.3_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2341-2343)ttC>ttT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							151	124	133					3																	10107621		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107621C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2343C>T	3.37:g.10107621C>T						FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	p.F781F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2436	+			781					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2343C>T	CCDS33696.1																																																																																				0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			62	218	0	0	0	1	0	62	218					T	10107621	C	T	10107621	2	4	17	1	0	0	0	0	0	0	0	1	5690	825	29	2		2	FANCD2	3	10107621	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	5385282	10107621	187914809	53	1920											
FBLN2	2199	broad.mit.edu	37	chr3	13679167	13679167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcctcctggtgcctgcGcatatcttccgcattggccc	11	16	1	0	rs201725233		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:13679167G>A	ENST00000295760.7	+	17	3372	c.3303G>A	c.(3301-3303)gcG>gcA	p.A1101A	FBLN2_ENST00000535798.1_Silent_p.A1127A|FBLN2_ENST00000492059.1_Silent_p.A1148A|FBLN2_ENST00000404922.3_Silent_p.A1148A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1101	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGGTGCCTGCGCATATCTTCC	0.637																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3442-3444)gcG>gcA		fibulin 2		G	,,	5,4343		0,5,2169	46	51	49		3444,3444,3303	-9.5	0	3		49	0,8544		0,0,4272	yes	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	0,5,6441	AA,AG,GG		0.0,0.115,0.0388	,,	1148/1232,1148/1232,1101/1185	13679167	5,12887	2174	4272	6446	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679167G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3303G>A	3.37:g.13679167G>A						FBLN2_ENST00000535798.1_Silent_p.A1127A|FBLN2_ENST00000492059.1_Silent_p.A1148A|FBLN2_ENST00000295760.7_Silent_p.A1101A	p.A1148A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3563	+			1101			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3444G>A	CCDS46762.1																																																																																				0.637	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		5	249	0	0	0	1	0	5	249					A	13679167	G	A	13679167	2	1	17	1	0	0	0	0	0	0	0	1	5724	1074	38	1		1	FBLN2	3	13679167	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3571546	13679167	184343263	54	1921											
TOP2B	7155	broad.mit.edu	37	chr3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcttaactacttcaAtcagtttaccaacaacttga	2	10	4	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000264331.4	-	9	1075	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I354T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AACTACTTCAATCAGTTTACC	0.328																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1060-1062)aTt>aCt		topoisomerase (DNA) II beta 180kDa							155	152	153					3																	25674236		1859	4094	5953	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674236A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1076T>C	3.37:g.25674236A>G	ENSP00000264331:p.Ile359Thr					TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T	p.I354T			Q02880	TOP2B_HUMAN			9	1262	-			359					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1061T>C		.	.	.	.	.	.	.	.	.	.	A	17.51	3.408676	0.62399	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.53561	1.675	0.80722	D	1	B	0.25048	0.117	B	0.29440	0.102	T	0.37337	-0.9710	10	0.54805	T	0.06	-15.1386	15.4062	0.74881	1.0:0.0:0.0:0.0	.	354	Q02880-2	.	T	354;359;354	ENSP00000396704:I354T;ENSP00000264331:I359T	ENSP00000264331:I359T	I	-	2	0	TOP2B	25649240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.032000	0.59987	0.528000	0.53228	ATT		0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				11	656	0	0	0	1	0	11	656					G	25674236	A	G	25674236	3	3	17	1	0	0	0	0	1	0	0	0	16419	101	4	4	3916	4	TOP2B	3	25674236	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	11995069	25674236	172348194	55	1922											
DLEC1	9940	broad.mit.edu	37	chr3	38151670	38151670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaggacccgtgtgactcGccagctcattctcaccaatc	8	15	2	2	rs368500201		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38151670G>A	ENST00000308059.6	+	23	3362	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	DLEC1_ENST00000346219.3_Missense_Mutation_p.R1114H|DLEC1_ENST00000452631.2_Missense_Mutation_p.R1117H					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGTGTGACTCGCCAGCTCATT	0.577																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3340-3342)cGc>cAc		deleted in lung and esophageal cancer 1		G	HIS/ARG,HIS/ARG	1,4119		0,1,2059	119	129	126		3341,3341	4.1	0	3		126	0,8444		0,0,4222	no	missense,missense	DLEC1	NM_007335.2,NM_007337.2	29,29	0,1,6281	AA,AG,GG		0.0,0.0243,0.0080	probably-damaging,probably-damaging	1114/1756,1114/1779	38151670	1,12563	2060	4222	6282	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38151670G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3341G>A	3.37:g.38151670G>A	ENSP00000308597:p.Arg1114His					DLEC1_ENST00000452631.2_Missense_Mutation_p.R1117H|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1114H	p.R1114H			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	23	3362	+			1114						Missense_Mutation	SNP	ENST00000308059.6	37	c.3341G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816516	0.70912	2.43E-4	0.0	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06768	3.27;3.26;3.52	4.97	4.06	0.47325	.	0.426070	0.24386	N	0.038972	T	0.21427	0.0516	M	0.70275	2.135	0.33358	D	0.571915	D;D;D;D	0.69078	0.961;0.997;0.962;0.961	B;P;B;B	0.56700	0.279;0.804;0.221;0.279	T	0.32719	-0.9896	10	0.42905	T	0.14	-10.3711	13.9732	0.64255	0.0:0.1535:0.8465:0.0	.	1117;1114;1114;1114	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	H	1114;1114;1117	ENSP00000308597:R1114H;ENSP00000315914:R1114H;ENSP00000410427:R1117H	ENSP00000308597:R1114H	R	+	2	0	DLEC1	38126674	0.153000	0.22777	0.018000	0.16275	0.829000	0.46940	1.973000	0.40550	1.251000	0.43983	0.655000	0.94253	CGC		0.577	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	1022	0	0	0	1	0	6	1022					A	38151670	G	A	38151670	3	1	17	1	0	0	0	0	1	0	0	0	4568	1087	38	1	3431	1	DLEC1	3	38151670	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	12477434	38151670	159870760	56	1923											
OXSR1	9943	broad.mit.edu	37	chr3	38271915	38271915	+	Frame_Shift_Del	DEL	A	A	-													ccaaccatttctgaaagagcAaaaaaggtaaatcagaattt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38271915delA	ENST00000446845.1	+	10	1317	c.945delA	c.(943-945)gcafs	p.A315fs	OXSR1_ENST00000311806.3_Frame_Shift_Del_p.A315fs					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGAAAGAGCAAAAAAGGTAA	0.274																																						ENST00000311806.3																			0				skin(1)	1						c.(943-945)gcfs		oxidative stress responsive 1							62	75	71					3																	38271915		2203	4291	6494	SO:0001589	frameshift_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38271915delA	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.945delA	3.37:g.38271915delA	ENSP00000415851:p.Ala315fs					OXSR1_ENST00000446845.1_Frame_Shift_Del_p.A315fs	p.A315fs	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1317	+			315						Frame_Shift_Del	DEL	ENST00000446845.1	37	c.945delA																																																																																					0.274	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		7	1018						7	1018	---	---	---	---	-	38271915	A	-	38271915	7	5	17	1	0	1	0	1	0	0	0	0	11378	117	5	0	983	0	OXSR1	3	38271915	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	120245	38271915	159750515	57	1924											
SCN11A	11280	broad.mit.edu	37	chr3	38927647	38927647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatggtcagatgaggcTcatcttcagagaacatgtca	10	9	5	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38927647T>C	ENST00000302328.3	-	16	3116	c.2918A>G	c.(2917-2919)gAg>gGg	p.E973G	SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000444237.2_Missense_Mutation_p.E973G|SCN11A_ENST00000450244.1_Missense_Mutation_p.E973G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	973					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGATGAGGCTCATCTTCAGA	0.473																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2917-2919)gAg>gGg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						145	129	134					3																	38927647		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38927647T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2918A>G	3.37:g.38927647T>C	ENSP00000307599:p.Glu973Gly					SCN11A_ENST00000444237.2_Missense_Mutation_p.E973G|SCN11A_ENST00000450244.1_Missense_Mutation_p.E973G|SCN11A_ENST00000456224.3_Intron	p.E973G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	16	3116	-			973					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2918A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.953	0.968572	0.18659	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000444237	D;D;D	0.84442	-1.85;-1.85;-1.85	4.65	-0.854	0.10705	Sodium ion transport-associated (1);	36.800200	0.00166	U	0.000002	T	0.70029	0.3177	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56111	-0.8033	10	0.23302	T	0.38	.	2.8054	0.05426	0.3189:0.1881:0.0:0.493	.	973	Q9UI33	SCNBA_HUMAN	G	973	ENSP00000307599:E973G;ENSP00000400945:E973G;ENSP00000408028:E973G	ENSP00000307599:E973G	E	-	2	0	SCN11A	38902651	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.267000	0.08619	-0.027000	0.13873	0.533000	0.62120	GAG		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		5	478	0	0	0	1	0	5	478					C	38927647	T	C	38927647	3	2	17	1	0	0	0	0	1	0	0	0	13963	1551	54	4	2501	4	SCN11A	3	38927647	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	655732	38927647	159094783	58	1925											
C3orf23	285343	broad.mit.edu	37	chr3	44399353	44399353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagatttctttggacaGcaccccgtagaaagggtaaa	9	10	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:44399353G>A	ENST00000342649.4	+	3	577	c.150G>A	c.(148-150)caG>caA	p.Q50Q	TCAIM_ENST00000417237.1_Silent_p.Q50Q|TCAIM_ENST00000396078.3_Silent_p.Q50Q|TCAIM_ENST00000383746.3_Silent_p.Q50Q	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	50						mitochondrion (GO:0005739)											TCTTTGGACAGCACCCCGTAG	0.358																																						ENST00000342649.4																			0											c.(148-150)caG>caA		T cell activation inhibitor, mitochondrial							98	95	96					3																	44399353		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44399353G>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.150G>A	3.37:g.44399353G>A						TCAIM_ENST00000417237.1_Silent_p.Q50Q|TCAIM_ENST00000383746.3_Silent_p.Q50Q|TCAIM_ENST00000396078.3_Silent_p.Q50Q	p.Q50Q	NM_173826.3	NP_776187.2					3	577	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.150G>A	CCDS2712.1																																																																																				0.358	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		6	459	0	0	0	1	0	6	459					A	44399353	G	A	44399353	2	1	17	1	0	0	0	0	0	0	0	1	2223	962	34	2		2	C3orf23	3	44399353	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5471706	44399353	153623077	59	1926											
RBM15B	29890	broad.mit.edu	37	chr3	51430392	51430392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggatacacccggcaccGcaacctggacgccgacctgg	12	15	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:51430392G>A	ENST00000323686.4	+	1	1662	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	521					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCCGGCACCGCAACCTGGAC	0.607																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1561-1563)cGc>cAc		RNA binding motif protein 15B							46	53	51					3																	51430392		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430392G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1562G>A	3.37:g.51430392G>A	ENSP00000313890:p.Arg521His						p.R521H	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1662	+			521					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1562G>A	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917639	0.73098	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18657	2.2	5.55	5.55	0.83447	.	.	.	.	.	T	0.30008	0.0751	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	P	0.48166	0.569	T	0.03268	-1.1054	9	0.15066	T	0.55	-1.4958	19.497	0.95077	0.0:0.0:1.0:0.0	.	521	Q8NDT2	RB15B_HUMAN	H	521;194	ENSP00000313890:R521H	ENSP00000313890:R521H	R	+	2	0	RBM15B	51405432	1.000000	0.71417	0.665000	0.29768	0.612000	0.37316	7.507000	0.81676	2.605000	0.88082	0.655000	0.94253	CGC		0.607	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		6	464	0	0	0	1	0	6	464					A	51430392	G	A	51430392	3	1	17	1	0	0	0	0	1	0	0	0	13167	1087	38	1	1564	1	RBM15B	3	51430392	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	7031039	51430392	146592038	60	1927											
EPHA3	2042	broad.mit.edu	37	chr3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgcaatgctggctatgaaGaaagaggttttatgtgccaa	11	7	0	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:89259649G>A	ENST00000336596.2	+	3	1018	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	265	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)			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)		TGGCTATGAAGAAAGAGGTTT	0.403										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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						c.(793-795)Gaa>Aaa		EPH receptor A3							153	153	153					3																	89259649		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259649G>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.793G>A	3.37:g.89259649G>A	ENSP00000337451:p.Glu265Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K	p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	1018	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	265			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.793G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.73;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76071	0.987;0.979	T	0.80732	-0.1251	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	265;265	P29320;P29320-2	EPHA3_HUMAN;.	K	265	ENSP00000337451:E265K;ENSP00000399926:E265K;ENSP00000419190:E265K	.	E	+	1	0	EPHA3	89342339	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		6	915	0	0	0	1	0	6	915					A	89259649	G	A	89259649	3	1	17	1	0	0	0	0	1	0	0	0	5186	943	33	2	803	2	EPHA3	3	89259649	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	37829257	89259649	108762781	61	1928											
MYH15	22989	broad.mit.edu	37	chr3	108107854	108107854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcatcgctcaagtctgCgggctcccctctgggcctct	11	15	4	1	rs201084859	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:108107854C>T	ENST00000273353.3	-	39	5614	c.5558G>A	c.(5557-5559)cGc>cAc	p.R1853H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1853						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAAGTCTGCGGGCTCCCCT	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		18280	0.002		0.0	False		,,,				2504	0.0					ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5557-5559)cGc>cAc		myosin, heavy chain 15		C	HIS/ARG	0,4028		0,0,2014	114	120	118		5558	1	0	3		118	2,8348		0,2,4173	yes	missense	MYH15	NM_014981.1	29	0,2,6187	TT,TC,CC		0.024,0.0,0.0162	benign	1853/1947	108107854	2,12376	2014	4175	6189	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108107854C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5558G>A	3.37:g.108107854C>T	ENSP00000273353:p.Arg1853His						p.R1853H	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			39	5614	-			1853						Missense_Mutation	SNP	ENST00000273353.3	37	c.5558G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404572	0.62288	0.0	2.4E-4	ENSG00000144821	ENST00000273353	D	0.86230	-2.09	5.98	1.03	0.20045	Myosin tail (1);	.	.	.	.	D	0.84343	0.5451	M	0.68317	2.08	0.22226	N	0.999271	P	0.42161	0.772	B	0.41723	0.365	T	0.73711	-0.3897	9	0.56958	D	0.05	.	6.5404	0.22377	0.2264:0.6047:0.0:0.1689	.	1853	Q9Y2K3	MYH15_HUMAN	H	1853	ENSP00000273353:R1853H	ENSP00000273353:R1853H	R	-	2	0	MYH15	109590544	0.966000	0.33281	0.000000	0.03702	0.225000	0.24961	1.270000	0.33086	-0.089000	0.12484	0.655000	0.94253	CGC		0.547	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		7	466	0	0	0	1	0	7	466					T	108107854	C	T	108107854	3	4	17	1	0	0	0	0	1	0	0	0	10075	768	27	1	298	1	MYH15	3	108107854	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	18848205	108107854	89914576	62	1929											
GPR156	165829	broad.mit.edu	37	chr3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtatcagcagaagtcCacagctgagaaaagtccaaa	9	8	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(178-180)Gga>Aga		G protein-coupled receptor 156							130	116	121					3																	119962542		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962542C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.178G>A	3.37:g.119962542C>T	ENSP00000417261:p.Gly60Arg					GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R	p.G60R			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	623	-			60					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.178G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949646	0.73787	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.91945	-2.94;-2.94;-2.94	5.2	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.089971	0.46758	D	0.000261	D	0.95974	0.8689	M	0.88512	2.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95894	0.8909	9	.	.	.	-13.3173	10.9026	0.47059	0.187:0.813:0.0:0.0	.	60;60	E9PFZ4;Q8NFN8	.;GP156_HUMAN	R	60	ENSP00000417261:G60R;ENSP00000324553:G60R;ENSP00000418758:G60R	.	G	-	1	0	GPR156	121445232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.385000	0.46445	0.650000	0.86243	GGA		0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		118	272	0	0	0	1	0	118	272					T	119962542	C	T	119962542	3	4	17	1	0	0	0	0	1	0	0	0	6690	603	21	2	2298	2	GPR156	3	119962542	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	11854688	119962542	78059888	63	1930											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		6	647	0	0	0	1	0	6	647					T	124418865	C	T	124418865	4	4	17	1	0	0	0	0	0	1	0	0	8005	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4456323	124418865	73603565	64	1931											
TRPC1	7220	broad.mit.edu	37	chr3	142467269	142467269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgcacattgtgttctgCaaaaaacaaaaaggatagcc	8	7	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:142467269C>A	ENST00000476941.1	+	4	1085	c.599C>A	c.(598-600)gCa>gAa	p.A200E	TRPC1_ENST00000273482.6_Missense_Mutation_p.A166E	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	200					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGTGTTCTGCAAAAAACAAA	0.353																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(496-498)gCa>gAa		transient receptor potential cation channel, subfamily C, member 1							133	139	137					3																	142467269		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142467269C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.599C>A	3.37:g.142467269C>A	ENSP00000419313:p.Ala200Glu					TRPC1_ENST00000476941.1_Missense_Mutation_p.A200E	p.A166E	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			3	888	+			200					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.497C>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733111	0.69189	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.75704	-0.96;0.3	5.59	5.59	0.84812	Transient receptor potential II (1);Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	N	0.02842	-0.48	0.80722	D	1	P;B	0.39404	0.672;0.007	P;B	0.45538	0.484;0.007	T	0.59710	-0.7403	10	0.09338	T	0.73	-29.6366	19.5934	0.95525	0.0:1.0:0.0:0.0	.	200;166	P48995;P48995-2	TRPC1_HUMAN;.	E	200;166	ENSP00000419313:A200E;ENSP00000273482:A166E	ENSP00000273482:A166E	A	+	2	0	TRPC1	143949959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.632000	0.61311	2.641000	0.89580	0.460000	0.39030	GCA		0.353	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		6	637	1	0	0.217242	1	0.233187	6	637					A	142467269	C	A	142467269	3	1	17	1	0	0	0	0	1	0	0	0	16631	710	25	3	507	3	TRPC1	3	142467269	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	18048404	142467269	55555161	65	1932											
P2RY1	5028	broad.mit.edu	37	chr3	152553674	152553674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtcgcctccactgccGccgtctcctcgtcgttcaaa	9	18	2	0	rs144727670		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:152553674G>A	ENST00000305097.3	+	1	939	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	35					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTCCACTGCCGCCGTCTCCTC	0.632																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(103-105)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 1							62	56	58					3																	152553674		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553674G>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.103G>A	3.37:g.152553674G>A	ENSP00000304767:p.Ala35Thr						p.A35T	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	939	+			35						Missense_Mutation	SNP	ENST00000305097.3	37	c.103G>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139086	0.21205	.	.	ENSG00000169860	ENST00000305097	T	0.36520	1.25	5.37	3.47	0.39725	.	0.512740	0.20558	N	0.089973	T	0.15478	0.0373	N	0.08118	0	0.30316	N	0.788022	B	0.13594	0.008	B	0.06405	0.002	T	0.08391	-1.0724	10	0.20519	T	0.43	.	6.1079	0.20084	0.1435:0.1857:0.6708:0.0	.	35	P47900	P2RY1_HUMAN	T	35	ENSP00000304767:A35T	ENSP00000304767:A35T	A	+	1	0	P2RY1	154036364	0.307000	0.24500	0.684000	0.30055	0.027000	0.11550	1.506000	0.35747	2.493000	0.84123	0.655000	0.94253	GCC		0.632	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	284	0	0	0	1	0	5	284					A	152553674	G	A	152553674	3	1	17	1	0	0	0	0	1	0	0	0	11388	1087	38	1	105	1	P2RY1	3	152553674	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10086405	152553674	45468756	66	1933											
PIK3CA	5290	broad.mit.edu	37	chr3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaatttctacacgagatcCtctctctgaaatcactgagc	6	12	4	3	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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.P539R(17)		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)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		17	Substitution - Missense(17)	p.P539R(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(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						c.(1615-1617)cCt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							53	53	53					3																	178936074		1806	4068	5874	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.chr3:178936074C>G		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.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P539R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1773	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		539			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1616C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			85	251	0	0	0	1	0	85	251					G	178936074	C	G	178936074	3	3	17	1	0	0	0	0	1	0	0	0	11955	681	24	5	1650	5	PIK3CA	3	178936074	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	26382400	178936074	19086356	67	1934											
TTC14	151613	broad.mit.edu	37	chr3	180328309	180328309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatttgaaaaagaaaaAggaaataagtcaaaaaatta	7	2	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:180328309A>G	ENST00000296015.4	+	12	2424	c.2292A>G	c.(2290-2292)aaA>aaG	p.K764K	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	764							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAAAGAAAAAGGAAATAAGT	0.303																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2290-2292)aaA>aaG		tetratricopeptide repeat domain 14							34	42	39					3																	180328309		2137	4256	6393	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180328309A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2292A>G	3.37:g.180328309A>G						TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	p.K764K	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2424	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		764					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.2292A>G	CCDS3237.1																																																																																				0.303	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	649	0	0	0	1	0	5	649					G	180328309	A	G	180328309	2	3	17	1	0	0	0	0	0	0	0	1	16735	69	3	4		4	TTC14	3	180328309	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	1392235	180328309	17694121	68	1935											
BDH1	622	broad.mit.edu	37	chr3	197241260	197241260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccccgaacgttgagatgCcggcattgttaacgaggccc	11	14	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:197241260C>T	ENST00000392378.2	-	6	747	c.437G>A	c.(436-438)gGc>gAc	p.G146D	BDH1_ENST00000392379.1_Missense_Mutation_p.G146D|BDH1_ENST00000358186.2_Missense_Mutation_p.G146D|BDH1_ENST00000441275.1_Missense_Mutation_p.G59D	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	146					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CGTTGAGATGCCGGCATTGTT	0.567																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(436-438)gGc>gAc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						139	121	128					3																	197241260		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241260C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.437G>A	3.37:g.197241260C>T	ENSP00000376183:p.Gly146Asp					BDH1_ENST00000392378.2_Missense_Mutation_p.G146D|BDH1_ENST00000358186.2_Missense_Mutation_p.G146D|BDH1_ENST00000441275.1_Missense_Mutation_p.G59D	p.G146D	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	838	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	146					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.437G>A	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957381|3.957381	0.73902|0.73902	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000455876|ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819	.|D;D;D;D;D;T;T	.|0.97089	.|-4.24;-4.24;-4.24;-4.24;-4.24;-0.2;-0.2	5.02|5.02	5.02|5.02	0.67125|0.67125	.|NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99010|0.99010	0.9662|0.9662	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.72075	.|0.976	D|D	0.99174|0.99174	1.0865|1.0865	5|10	.|0.59425	.|D	.|0.04	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|146	.|Q02338	.|BDH_HUMAN	T|D	3|146;146;146;59;59;127;146	.|ENSP00000376183:G146D;ENSP00000350914:G146D;ENSP00000376184:G146D;ENSP00000411014:G59D;ENSP00000387648:G59D;ENSP00000408685:G127D;ENSP00000409849:G146D	.|ENSP00000350914:G146D	A|G	-|-	1|2	0|0	BDH1|BDH1	198725657|198725657	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.380000|0.380000	0.30137|0.30137	7.662000|7.662000	0.83803|0.83803	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		5	498	0	0	0	1	0	5	498					T	197241260	C	T	197241260	3	4	17	1	0	0	0	0	1	0	0	0	1391	739	26	2	602	2	BDH1	3	197241260	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	16912951	197241260	781170	69	1936											
WHSC1	7468	broad.mit.edu	37	chr4	1955146	1955146	+	Frame_Shift_Del	DEL	A	A	-													tttaccatgaggcttgtgtgAaaaaataccctctgactgta							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:1955146delA	ENST00000382895.3	+	14	2664	c.2233delA	c.(2233-2235)aaafs	p.K746fs	WHSC1_ENST00000382888.3_Frame_Shift_Del_p.K94fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K746fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	746					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCTTGTGTGAAAAAATACCC	0.488			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2233-2235)aafs		Wolf-Hirschhorn syndrome candidate 1							163	173	170					4																	1955146		2203	4300	6503	SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955146delA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2233delA	4.37:g.1955146delA	ENSP00000372351:p.Lys746fs					WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382888.3_Frame_Shift_Del_p.K94fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K746fs	p.K746fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2664	+		all_epithelial(65;1.34e-05)	746					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	ENST00000382895.3	37	c.2233delA	CCDS33940.1																																																																																				0.488	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		8	1374						8	1374	---	---	---	---	-	1955146	A	-	1955146	7	5	17	1	0	1	0	1	0	0	0	0	17416	247	9	0	2351	0	WHSC1	4	1955146	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08		1955146	189199130	70	1937											
CHRNA9	55584	broad.mit.edu	37	chr4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcctcagaaaatgtgCccctgataggtgagtccaag	12	11	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					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)			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)	AGAAAATGTGCCCCTGATAGG	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(889-891)Ccc>Tcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						56	61	59					4																	40351422		2202	4297	6499	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351422C>T	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.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser						p.P297S	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1028	+			297					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.889C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			7	629	0	0	0	1	0	7	629					T	40351422	C	T	40351422	3	4	17	1	0	0	0	0	1	0	0	0	3398	739	26	2	903	2	CHRNA9	4	40351422	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	38396276	40351422	150802854	71	1938											
GK2	2712	broad.mit.edu	37	chr4	80328580	80328580	+	Frame_Shift_Del	DEL	C	C	-													tactaatgcagcacattggtCccccaaacacccagatattg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:80328580delC	ENST00000358842.3	-	1	792	c.775delG	c.(775-777)gacfs	p.D259fs		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)			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						GCACATTGGTCCCCCAAACAC	0.458																																						ENST00000358842.3																			0				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						c.(775-777)acfs		glycerol kinase 2							99	94	96					4																	80328580		2203	4300	6503	SO:0001589	frameshift_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328580delC	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.775delG	4.37:g.80328580delC	ENSP00000351706:p.Asp259fs						p.D259fs	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	792	-			259					Q7Z4Q4	Frame_Shift_Del	DEL	ENST00000358842.3	37	c.775delG	CCDS3585.1																																																																																				0.458	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		7	801						7	801	---	---	---	---	-	80328580	C	-	80328580	7	5	17	1	0	1	0	1	0	0	0	0	6450	855	30	0	890	0	GK2	4	80328580	Frame_Shift_Del	DEL	C	TCGA-2L-AAQA-01A-21D-A38G-08	39977158	80328580	110825696	72	1939											
SEC31A	22872	broad.mit.edu	37	chr4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-													tggaataggtttcttggtaaTtttttttgttggcaaagact							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3358-3360)ttfs		SEC31 homolog A (S. cerevisiae)							147	145	145					4																	83745800		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83745800delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs					SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs	p.I1120fs			O94979	SC31A_HUMAN			26	3521	-		Hepatocellular(203;0.114)	1107					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.3358delA	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	278						7	278	---	---	---	---	-	83745800	T	-	83745800	7	5	17	1	0	1	0	1	0	0	0	0	14048	1493	52	0	355	0	SEC31A	4	83745800	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	3417220	83745800	107408476	73	1940											
EXOSC9	5393	broad.mit.edu	37	chr4	122728764	122728764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgtgtcagttttgccTttttccagcaagggtaagcc	9	10	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:122728764T>C	ENST00000243498.5	+	6	700	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	EXOSC9_ENST00000512454.1_Missense_Mutation_p.F182L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F198L|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	198	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTTTTGCCTTTTTCCAGCA	0.358																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(544-546)Ttt>Ctt		exosome component 9							203	179	187					4																	122728764		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122728764T>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.592T>C	4.37:g.122728764T>C	ENSP00000243498:p.Phe198Leu					EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.F198L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F198L	p.F182L			Q06265	EXOS9_HUMAN			5	760	+			198			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.544T>C	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.169827|4.169827	0.78452|0.78452	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	D;D;B|.	0.76494|.	0.999;0.964;0.033|.	D;P;B|.	0.69142|.	0.962;0.736;0.048|.	T|T	0.69745|0.69745	-0.5062|-0.5062	10|5	0.40728|.	T|.	0.16|.	-20.182|-20.182	16.4781|16.4781	0.84144|0.84144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	182;198;198|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	L|P	198;198;152;182|33	ENSP00000243498:F198L;ENSP00000368984:F198L;ENSP00000422205:F152L;ENSP00000425782:F182L|.	ENSP00000243498:F198L|.	F|L	+|+	1|2	0|0	EXOSC9|EXOSC9	122948214|122948214	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	7.730000|7.730000	0.84881|0.84881	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.358	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		5	418	0	0	0	1	0	5	418					C	122728764	T	C	122728764	3	2	17	1	0	0	0	0	1	0	0	0	5339	1609	56	4	614	4	EXOSC9	4	122728764	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	38982964	122728764	68425512	74	1941											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	28	0	0	0	1	0	8	28					G	149075976	T	G	149075976	2	3	17	1	0	0	0	0	0	0	0	1	10673	1683	59	4		4	NR3C2	4	149075976	Silent	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	26347212	149075976	42078300	75	1942											
DCHS2	54798	broad.mit.edu	37	chr4	155156138	155156138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccatcatgatcagaggtCgtctgagttgaaagagctgc	11	8	3	5	rs572747172		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.4	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8299-8301)acG>acA		dachsous cadherin-related 2							100	95	97					4																	155156138		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156138C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8301G>A	4.37:g.155156138C>T							p.T2767T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8300	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2767					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8301G>A	CCDS3785.1																																																																																				0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	301	0	0	0	1	0	12	301					T	155156138	C	T	155156138	2	4	17	1	0	0	0	0	0	0	0	1	4299	871	31	1		1	DCHS2	4	155156138	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	6080162	155156138	35998138	76	1943											
FSTL5	56884	broad.mit.edu	37	chr4	162376242	162376242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccactggttgggtgtggatCgtgtggtgaggcacattccc	15	10	0	1	rs544088580	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:162376242C>T	ENST00000306100.5	-	15	2191	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	FSTL5_ENST00000379164.4_Silent_p.T584T|FSTL5_ENST00000536695.1_Silent_p.T584T|FSTL5_ENST00000427802.2_Silent_p.T575T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	585						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T585T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGGTGTGGATCGTGTGGTGAG	0.433													c|||	2	0.000399361	0.0	0.0	5008	,	,		14538	0.0		0.0	False		,,,				2504	0.002					ENST00000306100.5																			1	Substitution - coding silent(1)	p.T585T(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1753-1755)acG>acA		follistatin-like 5							149	112	124					4																	162376242		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162376242C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1755G>A	4.37:g.162376242C>T						FSTL5_ENST00000536695.1_Silent_p.T584T|FSTL5_ENST00000427802.2_Silent_p.T575T|FSTL5_ENST00000379164.4_Silent_p.T584T	p.T585T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	15	2191	-	all_hematologic(180;0.24)		585					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1755G>A	CCDS3802.1																																																																																				0.433	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		6	242	0	0	0	1	0	6	242					T	162376242	C	T	162376242	2	4	17	1	0	0	0	0	0	0	0	1	6107	871	31	1		1	FSTL5	4	162376242	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	7220104	162376242	28778034	77	1944											
SEMA5A	9037	broad.mit.edu	37	chr5	9197404	9197404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgcacacagctgaggccGcaatgctgttcctgggagcg	14	12	0	2	rs199625135	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:9197404G>A	ENST00000382496.5	-	10	1609	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCTGAGGCCGCAATGCTGTT	0.617													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17654	0.002		0.0	False		,,,				2504	0.0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(943-945)gCg>gTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							66	67	67					5																	9197404		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197404G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.944C>T	5.37:g.9197404G>A	ENSP00000371936:p.Ala315Val						p.A315V	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1609	-			315			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.944C>T	CCDS3875.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.29	3.350984	0.61183	.	.	ENSG00000112902	ENST00000382496	T	0.11930	2.73	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050216	0.85682	D	0.000000	T	0.34832	0.0911	L	0.60067	1.865	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.01697	-1.1293	10	0.62326	D	0.03	.	16.8931	0.86093	0.0:0.0:1.0:0.0	.	315	Q13591	SEM5A_HUMAN	V	315	ENSP00000371936:A315V	ENSP00000371936:A315V	A	-	2	0	SEMA5A	9250404	1.000000	0.71417	0.595000	0.28798	0.207000	0.24258	7.594000	0.82698	2.651000	0.90000	0.644000	0.83932	GCG		0.617	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	487	0	0	0	1	0	9	487					A	9197404	G	A	9197404	3	1	17	1	0	0	0	0	1	0	0	0	14087	1087	38	1	2336	1	SEMA5A	5	9197404	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		9197404	171717856	78	1945											
CTNND2	1501	broad.mit.edu	37	chr5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggctcctgtgggActggctgtgctgaaacctaa	13	10	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3433-3435)gTc>gGc		catenin (cadherin-associated protein), delta 2							85	77	79					5																	10973809		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973809A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3434T>G	5.37:g.10973809A>C	ENSP00000307134:p.Val1145Gly					CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G	p.V1145G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			22	3623	-			1145					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3434T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551943	0.13374	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78595	-1.08;-1.15;-1.07;-1.19;-1.19	5.93	2.29	0.28610	.	0.757929	0.12479	N	0.465306	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B;B;B	0.26318	0.002;0.035;0.146	B;B;B	0.24974	0.004;0.012;0.057	T	0.35943	-0.9768	10	0.26408	T	0.33	-15.0539	9.4259	0.38578	0.8:0.0:0.2:0.0	.	808;737;1145	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	G	1145;1087;1054;240;712;808	ENSP00000307134:V1145G;ENSP00000352661:V1087G;ENSP00000426510:V1054G;ENSP00000391155:V712G;ENSP00000426887:V808G	ENSP00000307134:V1145G	V	-	2	0	CTNND2	11026809	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.062000	0.57492	0.162000	0.19483	0.533000	0.62120	GTC		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		84	208	0	0	0	1	0	84	208					C	10973809	A	C	10973809	3	2	17	1	0	0	0	0	1	0	0	0	4031	275	10	4	247	4	CTNND2	5	10973809	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	1776405	10973809	169941451	79	1946											
NPR3	4883	broad.mit.edu	37	chr5	32712250	32712250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaccgcgtggcggcggCgcggggcgccaagccagacc	20	14	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:32712250C>T	ENST00000265074.8	+	1	711	c.368C>T	c.(367-369)gCg>gTg	p.A123V	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.A123V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	123					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGCGGCGGCGCGGGGCGCC	0.677																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(367-369)gCg>gTg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						48	57	55					5																	32712250		1929	4132	6061	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712250C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.368C>T	5.37:g.32712250C>T	ENSP00000265074:p.Ala123Val					NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.A123V|NPR3_ENST00000415685.2_Intron	p.A123V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	711	+			123					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.368C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759159	0.31137	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	T;T	0.20069	2.1;2.1	5.37	4.49	0.54785	Extracellular ligand-binding receptor (1);	0.615932	0.18341	N	0.144192	T	0.06962	0.0177	N	0.08118	0	0.58432	D	0.999999	P;P	0.40360	0.714;0.714	B;B	0.24848	0.056;0.056	T	0.32214	-0.9915	10	0.19590	T	0.45	-13.9395	6.1396	0.20253	0.0:0.5393:0.3147:0.146	.	123;123	P17342;Q60I31	ANPRC_HUMAN;.	V	123	ENSP00000265074:A123V;ENSP00000398028:A123V	ENSP00000265074:A123V	A	+	2	0	NPR3	32748007	0.998000	0.40836	0.997000	0.53966	0.863000	0.49368	2.503000	0.45407	1.251000	0.43983	0.561000	0.74099	GCG		0.677	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	502	0	0	0	1	0	6	502					T	32712250	C	T	32712250	3	4	17	1	0	0	0	0	1	0	0	0	10638	768	27	1	370	1	NPR3	5	32712250	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	21738441	32712250	148203010	80	1947											
HCN1	348980	broad.mit.edu	37	chr5	45303785	45303785	+	Frame_Shift_Del	DEL	T	T	-													accgtgttgaatgaaatacaTttttttacccacggctcctt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:45303785delT	ENST00000303230.4	-	6	1591	c.1534delA	c.(1534-1536)atgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M512fs*17(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAAATACATTTTTTTACCC	0.398																																						ENST00000303230.4																			1	Insertion - Frameshift(1)	p.M512fs*17(1)	large_intestine(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1534-1536)tgfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							110	107	108					5																	45303785		2203	4300	6503	SO:0001589	frameshift_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303785delT	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1534delA	5.37:g.45303785delT	ENSP00000307342:p.Met512fs						p.M512fs	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1591	-			512						Frame_Shift_Del	DEL	ENST00000303230.4	37	c.1534delA	CCDS3952.1																																																																																				0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	609						8	609	---	---	---	---	-	45303785	T	-	45303785	7	5	17	1	0	1	0	1	0	0	0	0	7026	1493	52	0	1150	0	HCN1	5	45303785	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	12591535	45303785	135611475	81	1948											
DEPDC1B	55789	broad.mit.edu	37	chr5	59895034	59895034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctggactaatttgacgGcaaaatgatggagcagataa	10	7	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:59895034G>A	ENST00000265036.5	-	10	1363	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	432					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TAATTTGACGGCAAAATGATG	0.383																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(1294-1296)tgC>tgT		DEP domain containing 1B							81	83	82					5																	59895034		2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59895034G>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1296C>T	5.37:g.59895034G>A						DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	p.C432C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			10	1363	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	432					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.1296C>T	CCDS3977.1																																																																																				0.383	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		5	462	0	0	0	1	0	5	462					A	59895034	G	A	59895034	2	1	17	1	0	0	0	0	0	0	0	1	4456	1195	42	2		2	DEPDC1B	5	59895034	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	14591249	59895034	121020226	82	1949											
PPWD1	23398	broad.mit.edu	37	chr5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcttatccaaccagcGtatgtttttcaccagatggg	10	9	1	1	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(856-858)Gta>Ata		peptidylprolyl isomerase domain and WD repeat containing 1		A	ILE/VAL	1,4405	798.9+/-415.5	0,1,2202	65	71	69		856	5.6	1	5	dbSNP_134	69	3,8597	814.0+/-407.0	0,3,4297	yes	missense	PPWD1	NM_015342.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	286/647	64868000	4,13002	2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64868000G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.856G>A	5.37:g.64868000G>A	ENSP00000261308:p.Val286Ile					PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	p.V286I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	928	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	286					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.856G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938643	0.18206	2.27E-4	3.49E-4	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098404	0.64402	N	0.000003	T	0.44095	0.1277	L	0.38838	1.175	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28808	-1.0032	10	0.09338	T	0.73	.	11.6254	0.51142	0.9304:0.0:0.0695:0.0	.	256;286	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	286;256;130;205	ENSP00000261308:V286I;ENSP00000442371:V256I;ENSP00000444496:V130I;ENSP00000423234:V205I	ENSP00000261308:V286I	V	+	1	0	PPWD1	64903756	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	0.955000	0.37878	-0.361000	0.07541	GTA		0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		156	413	0	0	0	1	0	156	413					A	64868000	G	A	64868000	3	1	17	1	0	0	0	0	1	0	0	0	12461	1145	40	1	874	1	PPWD1	5	64868000	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	4972966	64868000	116047260	83	1950											
TNPO1	3842	broad.mit.edu	37	chr5	72195908	72195908	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagtttataagaccctGgtgtgtattattcaatcttt	7	7	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	TNPO1_ENST00000523768.1_Splice_Site_p.W755*|TNPO1_ENST00000454282.1_Splice_Site_p.W755*|TNPO1_ENST00000506351.2_Splice_Site_p.W797*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348																																						ENST00000337273.5																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W797*(1)|p.W797L(1)	urinary_tract(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e21+1		transportin 1							180	167	171					5																	72195908		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195908G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2414+1G>A	5.37:g.72195908G>A						TNPO1_ENST00000506351.2_Splice_Site_p.W797_splice|TNPO1_ENST00000523768.1_Splice_Site_p.W755_splice|TNPO1_ENST00000454282.1_Splice_Site_p.W755_splice	p.W805_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2840	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	805					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2414_splice	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	38	6.879768	0.97904	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5419	19.1767	0.93605	0.0:0.0:1.0:0.0	.	.	.	.	X	805;755;755;797;316	.	ENSP00000336712:W805X	W	+	2	0	TNPO1	72231664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.619000	0.88677	0.467000	0.42956	TGG		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Nonsense_Mutation	166	361	0	0	0	1	0	166	361					A	72195908	G	A	72195908	5	1	17	1	0	0	0	0	0	0	1	0	16387	1362	47	2	2496	2	TNPO1	5	72195908	Splice_Site	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	7327908	72195908	108719352	84	1951											
SRFBP1	153443	broad.mit.edu	37	chr5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggaagcaagcagaaGgcgaaaagaacagcaatcta	11	7	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 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)		GCAAGCAGAAGGCGAAAAGAA	0.368																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(1225-1227)aGg>aAg		serum response factor binding protein 1							47	45	46					5																	121362757		1835	4088	5923	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121362757G>A	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.1226G>A	5.37:g.121362757G>A	ENSP00000341324:p.Arg409Lys					SRFBP1_ENST00000504881.1_Intron	p.R409K	NM_152546.2	NP_689759.2	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)	8	1298	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	409						Missense_Mutation	SNP	ENST00000339397.4	37	c.1226G>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569176	0.28003	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	-0.243	0.13035	Bud-site selection protein, BUD22 (1);	0.337294	0.36303	N	0.002678	T	0.30479	0.0766	N	0.16368	0.405	0.34634	D	0.719936	B	0.17038	0.02	B	0.17433	0.018	T	0.29366	-1.0014	9	0.13853	T	0.58	-6.0429	11.318	0.49403	0.5482:0.0:0.4518:0.0	.	409	Q8NEF9	SRFB1_HUMAN	K	409	.	ENSP00000341324:R409K	R	+	2	0	SRFBP1	121390656	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	1.433000	0.34947	0.003000	0.14656	0.655000	0.94253	AGG		0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		129	226	0	0	0	1	0	129	226					A	121362757	G	A	121362757	3	1	17	1	0	0	0	0	1	0	0	0	15196	1000	35	2	1256	2	SRFBP1	5	121362757	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	49166849	121362757	59552503	85	1952											
DND1	373863	broad.mit.edu	37	chr5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccacgcctccagcgccGccttgttctctggattcacc	8	18	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642																																						ENST00000542735.1																			0				central_nervous_system(1)|prostate(4)	5						c.(58-60)gCg>gTg		DND microRNA-mediated repression inhibitor 1							59	59	59					5																	140052939		2203	4300	6503	SO:0001583	missense	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052939G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.59C>T	5.37:g.140052939G>A	ENSP00000445366:p.Ala20Val					HARS_ENST00000504156.1_3'UTR	p.A20V	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	102	-			20						Missense_Mutation	SNP	ENST00000542735.1	37	c.59C>T	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290610	0.40494	.	.	ENSG00000256453	ENST00000542735	T	0.34859	1.34	4.58	4.58	0.56647	.	0.209202	0.33457	N	0.004895	T	0.20333	0.0489	N	0.20574	0.59	0.80722	D	1	P	0.35401	0.499	B	0.23716	0.048	T	0.06516	-1.0822	10	0.37606	T	0.19	-6.6743	12.0698	0.53609	0.0868:0.0:0.9132:0.0	.	20	Q8IYX4	DND1_HUMAN	V	20	ENSP00000445366:A20V	ENSP00000445366:A20V	A	-	2	0	DND1	140033123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	2.358000	0.79984	0.462000	0.41574	GCG		0.642	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		84	330	0	0	0	1	0	84	330					A	140052939	G	A	140052939	3	1	17	1	0	0	0	0	1	0	0	0	4682	1087	38	1	1014	1	DND1	5	140052939	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	18690182	140052939	40862321	86	1953											
PCDHA3	56145	broad.mit.edu	37	chr5	140181615	140181615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtaaataaggatatcgCgtattctttcaatacggaca	9	6	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140181615C>T	ENST00000522353.2	+	1	833	c.833C>T	c.(832-834)gCg>gTg	p.A278V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A278V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	278	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)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGATATCGCGTATTCTTTC	0.393																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(832-834)gCg>gTg									92	89	90					5																	140181615		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181615C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.833C>T	5.37:g.140181615C>T	ENSP00000429808:p.Ala278Val					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A278V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.A278V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	833	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.833C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.180528	0.00026	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50548	0.74;0.74	4.79	-3.17	0.05202	Cadherin (4);Cadherin-like (1);	1.311480	0.05755	N	0.603847	T	0.14743	0.0356	N	0.01417	-0.88	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.24476	-1.0159	10	0.02654	T	1	.	5.9056	0.18998	0.2045:0.372:0.0:0.4235	.	278;278	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	278	ENSP00000429808:A278V;ENSP00000434086:A278V	ENSP00000429808:A278V	A	+	2	0	PCDHA3	140161799	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.160000	0.00283	-1.068000	0.03156	-1.595000	0.00837	GCG		0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	492	0	0	0	1	0	5	492					T	140181615	C	T	140181615	3	4	17	1	0	0	0	0	1	0	0	0	11567	768	27	1	835	1	PCDHA3	5	140181615	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	128676	140181615	40733645	87	1954											
PCDHB2	56133	broad.mit.edu	37	chr5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggaagagctttgaattcaCttaagtgttaataaggatct	9	5	2	2	rs461653	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	798					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)			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)			TTTGAATTCACTTAAGTGTTA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		17655	0.001		0.0	False		,,,				2504	0.001					ENST00000194155.4																			0				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						c.(2392-2394)aCt>aGt									151	155	154					5																	140476767		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476767C>G	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.2393C>G	5.37:g.140476767C>G	ENSP00000194155:p.Thr798Ser						p.T798S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2541	+			798					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2393C>G	CCDS4244.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.003	-2.575107	0.00131	.	.	ENSG00000112852	ENST00000194155	T	0.47177	0.85	4.34	-1.02	0.10135	.	.	.	.	.	T	0.11495	0.0280	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	9	0.02654	T	1	.	2.1345	0.03758	0.4333:0.1242:0.3164:0.126	rs461653	798	Q9Y5E7	PCDB2_HUMAN	S	798	ENSP00000194155:T798S	ENSP00000194155:T798S	T	+	2	0	PCDHB2	140456951	0.005000	0.15991	0.320000	0.25306	0.037000	0.13140	-1.127000	0.03251	-0.315000	0.08703	-0.125000	0.14975	ACT		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		6	846	0	0	0	1	0	6	846					G	140476767	C	G	140476767	3	3	17	1	0	0	0	0	1	0	0	0	11584	565	20	5	2395	5	PCDHB2	5	140476767	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	295152	140476767	40438493	88	1955											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745619	140745619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagacggttccacgggCgtggagctggcgcctcgctc	14	16	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1720-1722)ggC>ggT									111	123	119					5																	140745619		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140745619C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1722C>T	5.37:g.140745619C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G574G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1722C>T	CCDS54925.1																																																																																				0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		286	604	0	0	0	1	0	286	604					T	140745619	C	T	140745619	2	4	17	1	0	0	0	0	0	0	0	1	11599	755	27	1		1	PCDHGA5	5	140745619	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	268852	140745619	40169641	89	1956											
ARAP3	64411	broad.mit.edu	37	chr5	141050146	141050146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcagtacaggaagccGctgtaagtagcacgcaccac	12	12	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:141050146G>A	ENST00000239440.4	-	14	2105	c.2040C>T	c.(2038-2040)agC>agT	p.S680S	ARAP3_ENST00000513878.1_Silent_p.S342S|ARAP3_ENST00000508305.1_Silent_p.S582S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	680					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGGAAGCCGCTGTAAGTAG	0.607																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2038-2040)agC>agT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							91	79	83					5																	141050146		2203	4300	6503	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050146G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2040C>T	5.37:g.141050146G>A						ARAP3_ENST00000513878.1_Silent_p.S342S|ARAP3_ENST00000508305.1_Silent_p.S582S	p.S680S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			14	2105	-			680					B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.2040C>T	CCDS4266.1																																																																																				0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	328	0	0	0	1	0	5	328					A	141050146	G	A	141050146	2	1	17	1	0	0	0	0	0	0	0	1	840	1078	38	1		1	ARAP3	5	141050146	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	304527	141050146	39865114	90	1957											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169	167	168					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		9	1639						9	1639	---	---	---	---	-	149375600	T	-	149375600	7	5	17	1	0	1	0	1	0	0	0	0	15952	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	8325454	149375600	31539660	91	1958											
SYNPO	11346	broad.mit.edu	37	chr5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagagctgcctcgcccGccaagcccagctccttggac	9	19	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2503-2505)Gcc>Acc		synaptopodin							57	65	62					5																	150029608		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029608G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2503G>A	5.37:g.150029608G>A	ENSP00000377789:p.Ala835Thr					SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	p.A835T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2877	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	835			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2503G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372055	0.42003	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24723	1.84;1.84;1.85	5.3	4.37	0.52481	.	0.271361	0.26450	N	0.024306	T	0.33265	0.0857	L	0.51422	1.61	0.29821	N	0.830848	D;D	0.65815	0.994;0.995	P;P	0.56278	0.795;0.748	T	0.09707	-1.0662	10	0.28530	T	0.3	-21.581	8.7709	0.34731	0.0:0.2979:0.5656:0.1365	.	591;835	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	T	835;835;591;591	ENSP00000377789:A835T;ENSP00000428378:A835T;ENSP00000429268:A591T	ENSP00000302139:A591T	A	+	1	0	SYNPO	150009801	0.986000	0.35501	0.939000	0.37840	0.469000	0.32828	0.835000	0.27531	2.480000	0.83734	0.462000	0.41574	GCC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	538	0	0	0	1	0	6	538					A	150029608	G	A	150029608	3	1	17	1	0	0	0	0	1	0	0	0	15508	1087	38	1	2509	1	SYNPO	5	150029608	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	654008	150029608	30885652	92	1959											
FAT2	2196	broad.mit.edu	37	chr5	150885588	150885588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggccctgagtcacttcGgagtgggggtattcccagcg	16	10	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					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)			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)			GAGTCACTTCGGAGTGGGGGT	0.622																																						ENST00000261800.5																			0				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						c.(12586-12588)tcC>tcT		FAT atypical cadherin 2							67	83	77					5																	150885588		2195	4294	6489	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885588G>A	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.12588C>T	5.37:g.150885588G>A							p.S4196S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12600	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4196					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12588C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790312	0.02884	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	-5.86	0.02304	.	.	.	.	.	.	.	.	.	.	.	0.29771	N	0.83475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4588	0.27283	0.3167:0.2335:0.4498:0.0	.	.	.	.	X	969	.	.	R	-	1	2	FAT2	150865781	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-2.499000	0.00968	-0.718000	0.04949	-0.459000	0.05422	CGA		0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		161	400	0	0	0	1	0	161	400					A	150885588	G	A	150885588	2	1	17	1	0	0	0	0	0	0	0	1	5715	1103	39	1		1	FAT2	5	150885588	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	855980	150885588	30029672	93	1960											
FAT2	2196	broad.mit.edu	37	chr5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatagaccaattgggaaAaagtgggagggttatcattg	14	3	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19. {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)			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)			CAATTGGGAAAAAGTGGGAGG	0.517																																						ENST00000261800.5																			0				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						c.(6814-6816)tTt>tCt		FAT atypical cadherin 2							100	99	100					5																	150923873		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.chr5:150923873A>G	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.6815T>C	5.37:g.150923873A>G	ENSP00000261800:p.Phe2272Ser						p.F2272S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6827	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2272			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6815T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513047	0.64522	.	.	ENSG00000086570	ENST00000261800	T	0.32023	1.47	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.69860	0.3158	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81348	-0.0973	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	2272	Q9NYQ8	FAT2_HUMAN	S	2272	ENSP00000261800:F2272S	ENSP00000261800:F2272S	F	-	2	0	FAT2	150904066	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.252000	0.95491	2.167000	0.68274	0.459000	0.35465	TTT		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	428	0	0	0	1	0	9	428					G	150923873	A	G	150923873	3	3	17	1	0	0	0	0	1	0	0	0	5715	14	1	4	6294	4	FAT2	5	150923873	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	38285	150923873	29991387	94	1961											
SGCD	6444	broad.mit.edu	37	chr5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagtacactcaccacCggagcaccatgcctggctct	10	15	2	0	rs566181541		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18429	0.001		0.0	False		,,,				2504	0.0					ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(28-30)Cgg>Tgg		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108	109	109					5																	155771526		1950	4166	6116	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771526C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.28C>T	5.37:g.155771526C>T	ENSP00000403003:p.Arg10Trp					SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	p.R10W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	515	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	10					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.28C>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.86694	1.41;-2.15;-2.16;1.41	5.59	2.34	0.29019	.	0.051785	0.64402	D	0.000001	D	0.91297	0.7256	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	D	0.91387	0.5132	10	0.72032	D	0.01	0.2039	14.2572	0.66060	0.5847:0.4153:0.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	W	11;10;11;11	ENSP00000429378:R11W;ENSP00000403003:R10W;ENSP00000338343:R11W;ENSP00000408324:R11W	ENSP00000338343:R11W	R	+	1	2	SGCD	155704104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.624000	0.30286	0.655000	0.94253	CGG		0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			83	230	0	0	0	1	0	83	230					T	155771526	C	T	155771526	3	4	17	1	0	0	0	0	1	0	0	0	14251	643	23	1	37	1	SGCD	5	155771526	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4847653	155771526	25143734	95	1962											
HK3	3101	broad.mit.edu	37	chr5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagagtcacccacaaaacaCgcagtgaggcccctgtggcc	10	14	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(310-312)cGt>cAt		hexokinase 3 (white cell)							57	58	58					5																	176318141		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318141C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.311G>A	5.37:g.176318141C>T	ENSP00000292432:p.Arg104His						p.R104H	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	402	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	104			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.311G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504410	0.85176	.	.	ENSG00000160883	ENST00000292432	D	0.99724	-6.54	4.96	4.96	0.65561	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000081	D	0.99664	0.9875	M	0.87900	2.915	0.32374	N	0.55541	D	0.71674	0.998	D	0.62955	0.909	D	0.97938	1.0324	10	0.62326	D	0.03	-7.6649	17.1545	0.86787	0.0:1.0:0.0:0.0	.	104	P52790	HXK3_HUMAN	H	104	ENSP00000292432:R104H	ENSP00000292432:R104H	R	-	2	0	HK3	176250747	0.996000	0.38824	0.984000	0.44739	0.870000	0.49936	4.152000	0.58111	2.460000	0.83146	0.561000	0.74099	CGT		0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			103	251	0	0	0	1	0	103	251					T	176318141	C	T	176318141	3	4	17	1	0	0	0	0	1	0	0	0	7222	536	19	1	2524	1	HK3	5	176318141	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	20546615	176318141	4597119	96	1963											
CANX	821	broad.mit.edu	37	chr5	179146760	179146760	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgagtacgtacctgatccaGacgcagagaaacctgaggat	11	10	0	5			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:179146760G>A	ENST00000247461.4	+	9	1203	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	CANX_ENST00000452673.2_Missense_Mutation_p.D335N|CANX_ENST00000504734.1_Missense_Mutation_p.D335N|CANX_ENST00000415618.2_Missense_Mutation_p.D370N|CANX_ENST00000512607.2_Missense_Mutation_p.D227N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	335	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|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)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ACCTGATCCAGACGCAGAGAA	0.408																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1003-1005)Gac>Aac		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						71	72	72					5																	179146760		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179146760G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1003G>A	5.37:g.179146760G>A	ENSP00000247461:p.Asp335Asn					CANX_ENST00000452673.2_Missense_Mutation_p.D335N|CANX_ENST00000415618.2_Missense_Mutation_p.D370N|CANX_ENST00000512607.2_Missense_Mutation_p.D227N|CANX_ENST00000504734.1_Missense_Mutation_p.D335N	p.D335N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1203	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	335			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1003G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533120	0.45073	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.54	5.54	0.83059	Calreticulin/calnexin, conserved site (1);Calreticulin/calnexin, P (2);	0.088386	0.85682	D	0.000000	T	0.42517	0.1206	N	0.25890	0.77	0.58432	D	0.999993	B;B;B	0.13594	0.008;0.001;0.008	B;B;B	0.11329	0.004;0.002;0.006	T	0.23547	-1.0185	10	0.17832	T	0.49	-28.2272	19.4637	0.94929	0.0:0.0:1.0:0.0	.	370;271;335	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	N	335;370;335;335;271;227;271	ENSP00000424063:D335N;ENSP00000394817:D370N;ENSP00000391646:D335N;ENSP00000247461:D335N;ENSP00000421107:D271N;ENSP00000423588:D227N	ENSP00000247461:D335N	D	+	1	0	CANX	179079366	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.455000	0.73497	2.610000	0.88304	0.561000	0.74099	GAC		0.408	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		4	111	0	0	0	1	0	4	111					A	179146760	G	A	179146760	3	1	17	1	0	0	0	0	1	0	0	0	2625	942	33	2	1033	2	CANX	5	179146760	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2828619	179146760	1768500	97	1964											
OR2Y1	134083	broad.mit.edu	37	chr5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagaagaagtgattcagtcGatggccacagagaggcatgg	14	7	1	4	rs372667309		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(514-516)Cga>Tga		olfactory receptor, family 2, subfamily Y, member 1		G	stop/ARG	0,4406		0,0,2203	60	54	56		514	2.6	0	5		56	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR2Y1	NM_001001657.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/312	180166545	1,13005	2203	4300	6503	SO:0001587	stop_gained	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166545G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.514C>T	5.37:g.180166545G>A	ENSP00000312403:p.Arg172*						p.R172*	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	554	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	172					B9EIP1|Q6IFB1|Q96R16	Nonsense_Mutation	SNP	ENST00000307832.2	37	c.514C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	0.0	1.16E-4	ENSG00000174339	ENST00000307832	.	.	.	4.41	2.59	0.31030	.	3.529880	0.00714	N	0.000849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0741	0.25195	0.0936:0.0:0.7351:0.1713	.	.	.	.	X	172	.	ENSP00000312403:R172X	R	-	1	2	OR2Y1	180099151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.967000	0.01508	0.572000	0.29383	0.511000	0.50034	CGA		0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		79	147	0	0	0	1	0	79	147					A	180166545	G	A	180166545	4	1	17	1	0	0	0	0	0	1	0	0	11077	1066	37	1	425	1	OR2Y1	5	180166545	Nonsense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1019785	180166545	748715	98	1965											
LRRC16A	55604	broad.mit.edu	37	chr6	25516009	25516009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaagtggacattagcgGcaacggaatgggggacatgg	16	7	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:25516009G>A	ENST00000329474.6	+	21	2107	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	580					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GACATTAGCGGCAACGGAATG	0.547																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1738-1740)gGc>gAc		leucine rich repeat containing 16A							55	58	57					6																	25516009		2141	4282	6423	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25516009G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1739G>A	6.37:g.25516009G>A	ENSP00000331983:p.Gly580Asp						p.G580D	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			21	2107	+			580					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1739G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077374	0.94000	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.55052	0.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69745	-0.5062	10	0.59425	D	0.04	.	19.9099	0.97023	0.0:0.0:1.0:0.0	.	580;580;580	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	D	580	ENSP00000331983:G580D	ENSP00000331983:G580D	G	+	2	0	LRRC16A	25623988	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	9.869000	0.99810	2.691000	0.91804	0.650000	0.86243	GGC		0.547	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		3	56	0	0	0	1	0	3	56					A	25516009	G	A	25516009	3	1	17	1	0	0	0	0	1	0	0	0	9009	1203	42	2	1821	2	LRRC16A	6	25516009	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		25516009	145599058	99	1966											
PHF1	5252	broad.mit.edu	37	chr6	33382134	33382134	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaattgggacagtttgctCctgggggaggtaaggggtag	19	4	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(865-867)ctC>ctA		PHD finger protein 1							96	99	98					6																	33382134		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382134C>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.867C>A	6.37:g.33382134C>A			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L289L	p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			9	1138	+		Ovarian(999;0.0443)	289					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.867C>A	CCDS4777.1																																																																																				0.498	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			139	259	1	0	4.13896e-67	1	5.00956e-67	139	259					A	33382134	C	A	33382134	2	1	17	1	0	0	0	0	0	0	0	1	11862	842	30	3		3	PHF1	6	33382134	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	7866125	33382134	137732933	100	1967											
POLR1C	9533	broad.mit.edu	37	chr6	43488767	43488767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgtgaggcttgcccgGgttcgagatcattatatctg	13	7	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:43488767G>A	ENST00000372389.3	+	8	991	c.903G>A	c.(901-903)cgG>cgA	p.R301R	POLR1C_ENST00000304004.3_Silent_p.R301R|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Silent_p.R251R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	301					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGCTTGCCCGGGTTCGAGATC	0.488																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(901-903)cgG>cgA		polymerase (RNA) I polypeptide C, 30kDa							125	129	128					6																	43488767		2203	4300	6503	SO:0001819	synonymous_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43488767G>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.903G>A	6.37:g.43488767G>A						POLR1C_ENST00000372344.2_Silent_p.R251R|POLR1C_ENST00000304004.3_Silent_p.R301R	p.R301R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	991	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		301					O75395|Q5JTE3	Silent	SNP	ENST00000372389.3	37	c.903G>A	CCDS4901.1																																																																																				0.488	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		5	445	0	0	0	1	0	5	445					A	43488767	G	A	43488767	2	1	17	1	0	0	0	0	0	0	0	1	12253	1219	43	2		2	POLR1C	6	43488767	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10106633	43488767	127626300	101	1968											
COL12A1	1303	broad.mit.edu	37	chr6	75840648	75840648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggaatagagtgtgtccGgaatcagccgctccagatgc	12	11	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:75840648G>A	ENST00000322507.8	-	36	6296	c.5987C>T	c.(5986-5988)cCg>cTg	p.P1996L	COL12A1_ENST00000345356.6_Missense_Mutation_p.P832L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1996L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1996L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1996	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGTGTGTCCGGAATCAGCCG	0.537																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5986-5988)cCg>cTg		collagen, type XII, alpha 1							95	98	97					6																	75840648		2076	4213	6289	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840648G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5987C>T	6.37:g.75840648G>A	ENSP00000325146:p.Pro1996Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.P1996L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P832L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1996L	p.P1996L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6296	-			1996			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5987C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801669	0.70682	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.84224	0.5425	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86880	0.2041	10	0.87932	D	0	.	19.6229	0.95667	0.0:0.0:1.0:0.0	.	832;1996	Q99715-2;Q99715	.;COCA1_HUMAN	L	1996;1996;832;1996;1996	ENSP00000325146:P1996L;ENSP00000305147:P832L;ENSP00000412864:P1996L;ENSP00000421216:P1996L	ENSP00000325146:P1996L	P	-	2	0	COL12A1	75897368	1.000000	0.71417	0.934000	0.37439	0.020000	0.10135	8.938000	0.92943	2.628000	0.89032	0.655000	0.94253	CCG		0.537	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	367	0	0	0	1	0	5	367					A	75840648	G	A	75840648	3	1	17	1	0	0	0	0	1	0	0	0	3678	1116	39	1	3328	1	COL12A1	6	75840648	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	32351881	75840648	95274419	102	1969											
TBX18	9096	broad.mit.edu	37	chr6	85446425	85446425	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaccatatgtgcagatactTgagatgatgacagagttaag	11	5	0	6			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:85446425T>A	ENST00000369663.5	-	8	2139	c.1802A>T	c.(1801-1803)cAa>cTa	p.Q601L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	601					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCAGATACTTGAGATGATGA	0.408																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1801-1803)cAa>cTa		T-box 18							60	61	61					6																	85446425		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446425T>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1802A>T	6.37:g.85446425T>A	ENSP00000358677:p.Gln601Leu					TBX18_ENST00000606784.1_Intron	p.Q601L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	2139	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	601					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1802A>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268502	0.40095	.	.	ENSG00000112837	ENST00000369663	D	0.93366	-3.21	5.53	5.53	0.82687	.	0.227067	0.49916	D	0.000126	D	0.93370	0.7886	L	0.36672	1.1	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	D	0.94755	0.7931	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:0.0:1.0	.	601	O95935	TBX18_HUMAN	L	601	ENSP00000358677:Q601L	ENSP00000358677:Q601L	Q	-	2	0	TBX18	85503144	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.281000	0.78621	2.222000	0.72286	0.477000	0.44152	CAA		0.408	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		7	240	0	0	0	1	0	7	240					A	85446425	T	A	85446425	3	1	17	1	0	0	0	0	1	0	0	0	15705	1812	63	5	25	5	TBX18	6	85446425	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	9605777	85446425	85668642	103	1970											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-													ttccttgcttcacttcctgtCccccccacacagctgtcttt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236	227	230					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1087						7	1087	---	---	---	---	-	127767596	C	-	127767596	7	5	17	1	0	1	0	1	0	0	0	0	8204	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Del	DEL	C	TCGA-2L-AAQA-01A-21D-A38G-08	42321171	127767596	43347471	104	1971											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	15	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			6	859	0	0	0	1	0	6	859					C	139266690	T	C	139266690	3	2	17	1	0	0	0	0	1	0	0	0	13278	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	11499094	139266690	31848377	105	1972											
FOXK1	221937	broad.mit.edu	37	chr7	4796791	4796791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggtgtctcctgcttccGcacccccttcgggcctctgt	12	16	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:4796791G>A	ENST00000328914.4	+	5	1217	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	FOXK1_ENST00000446823.1_Missense_Mutation_p.R243H	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCTGCTTCCGCACCCCCTTC	0.592																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1216-1218)cGc>cAc		forkhead box K1							72	80	77					7																	4796791		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr7:4796791G>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1217G>A	7.37:g.4796791G>A	ENSP00000328720:p.Arg406His					FOXK1_ENST00000446823.1_Missense_Mutation_p.R243H	p.R406H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1217	+		Ovarian(82;0.0175)	406						Missense_Mutation	SNP	ENST00000328914.4	37	c.1217G>A	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595530	0.96602	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96745	-3.82;-4.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98333	1.0534	10	0.72032	D	0.01	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	406;243	P85037;P85037-2	FOXK1_HUMAN;.	H	243;170;406;289	ENSP00000394442:R243H;ENSP00000328720:R406H	ENSP00000328720:R406H	R	+	2	0	FOXK1	4763317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.822000	0.99363	2.664000	0.90586	0.655000	0.94253	CGC		0.592	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	624	0	0	0	1	0	6	624					A	4796791	G	A	4796791	3	1	17	1	0	0	0	0	1	0	0	0	6041	1087	38	1	1235	1	FOXK1	7	4796791	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		4796791	154341872	106	1973											
ABCA13	154664	broad.mit.edu	37	chr7	48431626	48431626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagcttggtgtgtgtccGcagcaggacatcctgttgga	15	8	0	0	rs372260479		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:48431626G>A	ENST00000435803.1	+	38	11787	c.11763G>A	c.(11761-11763)ccG>ccA	p.P3921P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3921	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P3921P(1)|p.P3866P(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						GTGTGTGTCCGCAGCAGGACA	0.552																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.P3921P(1)|p.P3866P(1)	large_intestine(2)	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						c.(11761-11763)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 13		G		6,4058		0,6,2026	121	125	123		11763	-10.6	0	7		123	0,8362		0,0,4181	no	coding-synonymous	ABCA13	NM_152701.3		0,6,6207	AA,AG,GG		0.0,0.1476,0.0483		3921/5059	48431626	6,12420	2032	4181	6213	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431626G>A	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.11763G>A	7.37:g.48431626G>A							p.P3921P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11787	+			3921			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11763G>A	CCDS47584.1																																																																																				0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	271	0	0	0	1	0	4	271					A	48431626	G	A	48431626	2	1	17	1	0	0	0	0	0	0	0	1	31	1074	38	1		1	ABCA13	7	48431626	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	43634835	48431626	110707037	107	1974											
FIGNL1	63979	broad.mit.edu	37	chr7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaatgcacttgccaattaGagttttaccagtcccaggag	9	10	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458																																						ENST00000419119.1																			1	Substitution - coding silent(1)	p.L449L(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1345-1347)Cta>Ata		fidgetin-like 1							52	53	53					7																	50513641		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513641G>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>A	7.37:g.50513641G>T	ENSP00000410811:p.Leu449Ile					FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I	p.L449I			Q6PIW4	FIGL1_HUMAN			2	2898	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	449					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1345C>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031312	0.75504	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	M	0.92970	3.365	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	D	0.98137	1.0434	10	0.72032	D	0.01	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	I	449	ENSP00000349356:L449I;ENSP00000378924:L449I;ENSP00000399997:L449I;ENSP00000410811:L449I	ENSP00000349356:L449I	L	-	1	2	FIGNL1	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		5	374	1	0	1	1	1	5	374					T	50513641	G	T	50513641	3	4	17	1	0	0	0	0	1	0	0	0	5917	933	33	3	683	3	FIGNL1	7	50513641	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2082015	50513641	108625022	108	1975											
AUTS2	26053	broad.mit.edu	37	chr7	70229862	70229862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcacagcttcacacccAccctccagccccccgcacac	4	25	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:70229862A>C	ENST00000342771.4	+	8	1660	c.1339A>C	c.(1339-1341)Acc>Ccc	p.T447P	AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		cttcacacccaccctccagcc	0.647																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1339-1341)Acc>Ccc		autism susceptibility candidate 2							80	67	72					7																	70229862		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70229862A>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1339A>C	7.37:g.70229862A>C	ENSP00000344087:p.Thr447Pro					AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	8	1660	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	447					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1339A>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721953	0.48728	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11604	2.76;2.76	5.38	3.05	0.35203	.	0.397491	0.29868	N	0.010995	T	0.10551	0.0258	N	0.22421	0.69	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.51229	0.663;0.663	T	0.20042	-1.0287	9	.	.	.	-11.6536	8.4964	0.33130	0.7758:0.0:0.2242:0.0	.	447;447	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	447	ENSP00000385263:T447P;ENSP00000344087:T447P	.	T	+	1	0	AUTS2	69867798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.980000	0.29513	0.897000	0.36392	0.496000	0.49642	ACC		0.647	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			7	55	0	0	0	1	0	7	55					C	70229862	A	C	70229862	3	2	17	1	0	0	0	0	1	0	0	0	1226	159	6	4	1514	4	AUTS2	7	70229862	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	19716221	70229862	88908801	109	1976											
MGC26647	219557	broad.mit.edu	37	chr7	88424058	88424058	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacatttgttcatagtagtCagcaacatcttttctttcta	4	8	5	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:88424058C>A	ENST00000297203.2	-	2	384	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	67										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCATAGTAGTCAGCAACATCT	0.388																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(199-201)Gac>Tac		chromosome 7 open reading frame 62							122	118	119					7																	88424058		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424058C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.199G>T	7.37:g.88424058C>A	ENSP00000297203:p.Asp67Tyr					ZNF804B_ENST00000333190.4_Intron	p.D67Y	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	384	-			67						Missense_Mutation	SNP	ENST00000297203.2	37	c.199G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681301	0.29872	.	.	ENSG00000164645	ENST00000297203	T	0.15256	2.44	6.16	5.28	0.74379	.	0.696409	0.14470	N	0.317618	T	0.28928	0.0718	L	0.45581	1.43	0.18873	N	0.999981	D	0.56968	0.978	P	0.58873	0.847	T	0.07385	-1.0775	10	0.44086	T	0.13	-1.3387	10.4736	0.44652	0.0:0.9147:0.0:0.0853	.	67	Q8TBZ9	CG062_HUMAN	Y	67	ENSP00000297203:D67Y	ENSP00000297203:D67Y	D	-	1	0	C7orf62	88261994	0.971000	0.33674	0.594000	0.28785	0.095000	0.18619	2.648000	0.46647	2.937000	0.99478	0.650000	0.86243	GAC		0.388	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		5	526	1	0	1	1	1	5	526					A	88424058	C	A	88424058	3	1	17	1	0	0	0	0	1	0	0	0	9591	826	29	3	566	3	MGC26647	7	88424058	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	18194196	88424058	70714605	110	1977											
ZNF3	7551	broad.mit.edu	37	chr7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacattcatcacacttaTggggtctgtctcccacgggg	10	12	4	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000424697.1	-	6	905	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(598-600)cAt>cGt		zinc finger protein 3							86	93	91					7																	99669508		2146	4274	6420	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669508T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.599A>G	7.37:g.99669508T>C	ENSP00000415358:p.His200Arg					ZNF3_ENST00000424697.1_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R	p.H200R			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1566	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	200					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.599A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189385	0.57909	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35421	1.31;1.31;1.31	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.51584	0.1683	L	0.60845	1.875	0.37016	D	0.895972	D;D	0.63880	0.993;0.982	P;P	0.62491	0.824;0.903	T	0.61783	-0.6992	10	0.87932	D	0	-15.5748	12.2643	0.54668	0.0:0.0:0.0:1.0	.	183;200	B3KRP4;P17036	.;ZNF3_HUMAN	R	200	ENSP00000415358:H200R;ENSP00000306372:H200R;ENSP00000299667:H200R	ENSP00000299667:H200R	H	-	2	0	ZNF3	99507444	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.261000	0.18442	2.075000	0.62263	0.533000	0.62120	CAT		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		151	379	0	0	0	1	0	151	379					C	99669508	T	C	99669508	3	2	17	1	0	0	0	0	1	0	0	0	17882	1464	51	4	874	4	ZNF3	7	99669508	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	11245450	99669508	59469155	111	1978											
MUC17	140453	broad.mit.edu	37	chr7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaaggtagcagcatgCcaacctcaactcctggtgaa	10	12	1	2	rs71286275		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225	230	228					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	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.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1776	0	0	0	1	0	9	1776					T	100682744	C	T	100682744	3	4	17	1	0	0	0	0	1	0	0	0	10015	739	26	2	8057	2	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1013236	100682744	58455919	112	1979											
CBLL1	79872	broad.mit.edu	37	chr7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaattgagcagtgtacacGaggttctctcttcatgtgta	11	8	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.3	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(478-480)cGa>cAa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							107	95	99					7																	107398626		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398626G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.479G>A	7.37:g.107398626G>A	ENSP00000401277:p.Arg160Gln					CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	p.R160Q	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	946	+			160					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.479G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860457	0.71834	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32753	1.45;1.44;1.48	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.755	T	0.36432	-0.9748	10	0.28530	T	0.3	-2.0467	15.7175	0.77681	0.0:0.1374:0.8626:0.0	.	159;160	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	160;39;159;110;106	ENSP00000401277:R160Q;ENSP00000222597:R159Q;ENSP00000410615:R110Q	ENSP00000222597:R159Q	R	+	2	0	CBLL1	107185862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.543000	0.98089	1.259000	0.44117	0.655000	0.94253	CGA		0.378	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		123	293	0	0	0	1	0	123	293					A	107398626	G	A	107398626	3	1	17	1	0	0	0	0	1	0	0	0	2710	1058	37	1	501	1	CBLL1	7	107398626	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	6715882	107398626	51740037	113	1980											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	410						7	410	---	---	---	---	-	114270018	CAG	-	114270016	7	5	17	1	0	1	0	1	0	0	0	0	6054	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-2L-AAQA-01A-21D-A38G-08	6871390	114270016	44868647	114	1981											
FAM71F2	346653	broad.mit.edu	37	chr7	128315711	128315711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctttctgacccatgtaCctgaggctgatttccaggtc	9	13	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:128315711C>A	ENST00000480462.1	+	2	269	c.163C>A	c.(163-165)Cct>Act	p.P55T	FAM71F2_ENST00000477515.1_Missense_Mutation_p.P55T|FAM71F2_ENST00000460349.1_Intron|FAM71F2_ENST00000378704.3_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	55										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GACCCATGTACCTGAGGCTGA	0.582																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(163-165)Cct>Act		family with sequence similarity 71, member F2							50	53	52					7																	128315711		2001	4171	6172	SO:0001583	missense	346653							g.chr7:128315711C>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.163C>A	7.37:g.128315711C>A	ENSP00000420140:p.Pro55Thr					FAM71F2_ENST00000460349.1_Intron|FAM71F2_ENST00000477515.1_Missense_Mutation_p.P55T|FAM71F2_ENST00000378704.3_Intron	p.P55T			Q6NXP2	F71F2_HUMAN			2	269	+			55					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.163C>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	C	1.891	-0.455370	0.04540	.	.	ENSG00000205085	ENST00000480462;ENST00000477515	T;T	0.30448	3.36;1.53	4.93	1.46	0.22682	.	.	.	.	.	T	0.18045	0.0433	N	0.22421	0.69	0.18873	N	0.999989	B	0.30068	0.267	B	0.27608	0.081	T	0.18999	-1.0319	9	0.54805	T	0.06	-10.0036	5.3602	0.16083	0.0:0.5332:0.0:0.4668	.	55	Q6NXP2	F71F2_HUMAN	T	55	ENSP00000420140:P55T;ENSP00000419649:P55T	ENSP00000419649:P55T	P	+	1	0	FAM71F2	128102947	0.000000	0.05858	0.407000	0.26434	0.010000	0.07245	-0.219000	0.09228	0.533000	0.28675	0.557000	0.71058	CCT		0.582	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			4	193	1	0	0.150653	1	0.163713	4	193					A	128315711	C	A	128315711	3	1	17	1	0	0	0	0	1	0	0	0	5638	507	18	3	169	3	FAM71F2	7	128315711	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	14045695	128315711	30822952	115	1982											
RP1L1	94137	broad.mit.edu	37	chr8	10467278	10467278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcctctgtgccctctgCggggcacggctctgcagagg	16	13	3	1	rs371898327	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:10467278C>T	ENST00000382483.3	-	4	4553	c.4330G>A	c.(4330-4332)Gca>Aca	p.A1444T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1524					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)		GTGCCCTCTGCGGGGCACGGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16663	0.002		0.0	False		,,,				2504	0.0					ENST00000382483.3																			0				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						c.(4330-4332)Gca>Aca		retinitis pigmentosa 1-like 1			THR/ALA	0,3946		0,0,1973	113	126	122		4330	-0.9	0	8		122	1,8335		0,1,4167	no	missense	RP1L1	NM_178857.5	58	0,1,6140	TT,TC,CC		0.012,0.0,0.0081	benign	1444/2401	10467278	1,12281	1973	4168	6141	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467278C>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.4330G>A	8.37:g.10467278C>T	ENSP00000371923:p.Ala1444Thr						p.A1444T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4553	-			1444					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4330G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858404	0.51376	0.0	1.2E-4	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.51	-0.936	0.10419	.	2.086770	0.02877	U	0.132436	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.16722	0.016	T	0.43988	-0.9357	10	0.46703	T	0.11	1.2785	7.8177	0.29269	0.1758:0.556:0.2682:0.0	.	1444	A6NKC6	.	T	1444	ENSP00000371923:A1444T	ENSP00000371923:A1444T	A	-	1	0	RP1L1	10504688	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.764000	0.04651	-0.674000	0.03794	GCA		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	950	0	0	0	1	0	8	950					T	10467278	C	T	10467278	3	4	17	1	0	0	0	0	1	0	0	0	13583	768	27	1	2876	1	RP1L1	8	10467278	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		10467278	135896744	116	1983											
LRRCC1	85444	broad.mit.edu	37	chr8	86022348	86022348	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattttactttttttttttAggacttgaagaactaattaa	4	3	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																						ENST00000414626.2																			4	Unknown(4)	p.?(4)	kidney(4)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.e2-1		leucine rich repeat and coiled-coil centrosomal protein 1							53	48	49					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86022348A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T						LRRCC1_ENST00000360375.3_Splice_Site				Q9C099	LRCC1_HUMAN			2	1139	+								B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37		CCDS43750.1																																																																																				0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron	6	565	0	0	0	1	0	6	565					T	86022348	A	T	86022348	5	4	17	1	0	0	0	0	0	0	1	0	9064	434	15	5	319	5	LRRCC1	8	86022348	Splice_Site	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	75555070	86022348	60341674	117	1984											
LAPTM4B	55353	broad.mit.edu	37	chr8	98788032	98788032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtccccgccgctgcagCggtcgccttcggagcgaagg	14	18	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:98788032C>T	ENST00000445593.2	+	1	748	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RNU7-177P_ENST00000517101.1_RNA|LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	76					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GCCGCTGCAGCGGTCGCCTTC	0.741																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(67-69)gCg>gTg		lysosomal protein transmembrane 4 beta							4	5	5					8																	98788032		1453	3173	4626	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98788032C>T	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.68C>T	8.37:g.98788032C>T	ENSP00000402301:p.Ala23Val					LAPTM4B_ENST00000521545.2_5'UTR	p.A23V	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		1	748	+	Breast(36;1.59e-06)		76					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000445593.2	37	c.68C>T	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006333	0.54361	.	.	ENSG00000104341	ENST00000445593;ENST00000378722	T	0.52295	0.67	3.19	3.19	0.36642	.	.	.	.	.	T	0.27765	0.0683	N	0.08118	0	0.49299	D	0.999775	B;B	0.27498	0.18;0.174	B;B	0.25614	0.062;0.019	T	0.21211	-1.0252	9	0.59425	D	0.04	-0.0465	11.7285	0.51722	0.0:1.0:0.0:0.0	.	23;76	Q86SJ0;Q86VI4	.;LAP4B_HUMAN	V	23;69	ENSP00000402301:A23V	ENSP00000367995:A69V	A	+	2	0	LAPTM4B	98857208	0.014000	0.17966	0.002000	0.10522	0.006000	0.05464	1.584000	0.36589	1.831000	0.53308	0.584000	0.79450	GCG		0.741	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380014.1			3	35	0	0	0	1	0	3	35					T	98788032	C	T	98788032	3	4	17	1	0	0	0	0	1	0	0	0	8656	768	27	1	70	1	LAPTM4B	8	98788032	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	12765684	98788032	47575990	118	1985											
ZHX2	22882	broad.mit.edu	37	chr8	123966034	123966034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaagactgtttgccaGcaaagccctcagaggccacc	9	14	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:123966034G>A	ENST00000314393.4	+	3	3119	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	762					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGTTTGCCAGCAAAGCCCTC	0.562																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2284-2286)Gca>Aca		zinc fingers and homeoboxes 2							71	74	73					8																	123966034		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123966034G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2284G>A	8.37:g.123966034G>A	ENSP00000314709:p.Ala762Thr						p.A762T	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3119	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		762						Missense_Mutation	SNP	ENST00000314393.4	37	c.2284G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195289	0.38806	.	.	ENSG00000178764	ENST00000314393	T	0.18810	2.19	5.51	3.68	0.42216	.	0.537756	0.20022	N	0.100883	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.16722	0.016	T	0.19484	-1.0304	10	0.40728	T	0.16	-4.8614	10.304	0.43670	0.0728:0.1357:0.7915:0.0	.	762	Q9Y6X8	ZHX2_HUMAN	T	762	ENSP00000314709:A762T	ENSP00000314709:A762T	A	+	1	0	ZHX2	124035215	0.626000	0.27120	0.068000	0.19968	0.708000	0.40852	2.597000	0.46214	0.848000	0.35191	0.561000	0.74099	GCA		0.562	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	308	0	0	0	1	0	5	308					A	123966034	G	A	123966034	3	1	17	1	0	0	0	0	1	0	0	0	17729	971	34	2	2286	2	ZHX2	8	123966034	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	25178002	123966034	22397988	119	1986											
TG	7038	broad.mit.edu	37	chr8	133995617	133995617	+	Frame_Shift_Del	DEL	T	T	-													gctcaaaataatgctcccagTttttgccctttggttgttct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:133995617delT	ENST00000220616.4	+	35	6262	c.6222delT	c.(6220-6222)agtfs	p.S2074fs	TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2074					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)				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)		ATGCTCCCAGTTTTTGCCCTT	0.398																																						ENST00000220616.4																			0				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						c.(6220-6222)agfs		thyroglobulin							294	274	281					8																	133995617		2203	4300	6503	SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133995617delT	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.6222delT	8.37:g.133995617delT	ENSP00000220616:p.Ser2074fs					TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs|TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000519543.1_Intron|TG_ENST00000522523.1_3'UTR	p.S2074fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	35	6262	+	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)	2074					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.6222delT	CCDS34944.1																																																																																				0.398	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	1195						8	1195	---	---	---	---	-	133995617	T	-	133995617	7	5	17	1	0	1	0	1	0	0	0	0	15865	1722	60	0	6360	0	TG	8	133995617	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	10029583	133995617	12368405	120	1987											
PUF60	22827	broad.mit.edu	37	chr8	144900700	144900700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccgctgccgctgagccGccatctgcagcaggacagag	14	16	1	2	rs369414220		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144900700G>A	ENST00000526683.1	-	6	908	c.353C>T	c.(352-354)gCg>gTg	p.A118V	PUF60_ENST00000313352.7_Missense_Mutation_p.A58V|PUF60_ENST00000349157.6_Missense_Mutation_p.A101V|PUF60_ENST00000453551.2_Missense_Mutation_p.A75V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Missense_Mutation_p.A89V|PUF60_ENST00000527197.1_Missense_Mutation_p.A72V	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	118	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGCTGAGCCGCCATCTGCAG	0.692																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(352-354)gCg>gTg		poly-U binding splicing factor 60KDa		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4044		0,0,2022	9	12	11		224,302,353	4.1	1	8		11	1,8303		0,1,4151	no	missense,missense,missense	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	64,64,64	0,1,6173	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign	75/517,101/543,118/560	144900700	1,12347	2022	4152	6174	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144900700G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.353C>T	8.37:g.144900700G>A	ENSP00000434359:p.Ala118Val					PUF60_ENST00000527197.1_Missense_Mutation_p.A72V|PUF60_ENST00000453551.2_Missense_Mutation_p.A75V|PUF60_ENST00000313352.7_Missense_Mutation_p.A58V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Missense_Mutation_p.A89V|PUF60_ENST00000349157.6_Missense_Mutation_p.A101V	p.A118V	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	908	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		118			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.353C>T	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.807918|3.807918	0.70797|0.70797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.20463|.	2.54;2.56;2.57;2.55;2.4;2.55;2.6;3.36;3.22;2.07|.	5.02|5.02	4.14|4.14	0.48551|0.48551	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;P;P|.	0.37781|.	0.255;0.608;0.474|.	B;B;B|.	0.37422|.	0.057;0.249;0.056|.	T|T	0.55704|0.55704	-0.8099|-0.8099	10|5	0.30078|.	T|.	0.28|.	.|.	12.143|12.143	0.54008|0.54008	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	89;101;118|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	V|W	118;75;58;89;101;72;100;138;138;155|116	ENSP00000434359:A118V;ENSP00000402953:A75V;ENSP00000322016:A58V;ENSP00000395417:A89V;ENSP00000322036:A101V;ENSP00000431960:A72V;ENSP00000432610:A100V;ENSP00000434863:A138V;ENSP00000437309:A138V;ENSP00000433403:A155V|.	ENSP00000322016:A58V|.	A|R	-|-	2|1	0|2	PUF60|PUF60	144972688|144972688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.732000|9.732000	0.98816|0.98816	1.108000|1.108000	0.41662|0.41662	0.467000|0.467000	0.42956|0.42956	GCG|CGG		0.692	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		4	74	0	0	0	1	0	4	74					A	144900700	G	A	144900700	3	1	17	1	0	0	0	0	1	0	0	0	12874	1087	38	1	1354	1	PUF60	8	144900700	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10905083	144900700	1463322	121	1988											
PLEC	5339	broad.mit.edu	37	chr8	144991030	144991030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgctggggtcgatgatgCccccggtgcaggcctgcgcc	17	14	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144991030C>A	ENST00000322810.4	-	32	13539	c.13370G>T	c.(13369-13371)gGc>gTc	p.G4457V	PLEC_ENST00000357649.2_Missense_Mutation_p.G4324V|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343V|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306V|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298V|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347V|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320V|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288V|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGATGATGCCCCCGGTGCA	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13369-13371)gGc>gTc		plectin							40	47	44					8																	144991030		2127	4226	6353	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991030C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13370G>T	8.37:g.144991030C>A	ENSP00000323856:p.Gly4457Val					PLEC_ENST00000527096.1_Missense_Mutation_p.G4343V|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320V|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288V|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324V|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320V|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298V|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306V|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347V	p.G4457V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13539	-			4457			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13370G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753018	0.15778	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000006	D	0.94218	0.8144	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	4347;4306;4298;4457;4288;4320;4324;4320	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	4320;4324;4320;4288;4457;4298;4306;4347;4343	ENSP00000344848:G4320V;ENSP00000350277:G4324V;ENSP00000346602:G4320V;ENSP00000381756:G4288V;ENSP00000323856:G4457V;ENSP00000347044:G4298V;ENSP00000348702:G4306V;ENSP00000388180:G4347V;ENSP00000434583:G4343V	ENSP00000323856:G4457V	G	-	2	0	PLEC	145063018	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	7.543000	0.82106	2.795000	0.96236	0.643000	0.83706	GGC		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	372	1	0	1	1	1	5	372					A	144991030	C	A	144991030	3	1	17	1	0	0	0	0	1	0	0	0	12094	739	26	3	688	3	PLEC	8	144991030	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	90330	144991030	1372992	122	1989											
NFKBIL2	4796	broad.mit.edu	37	chr8	145660399	145660399	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctccgctctgcggctcaCctcgtcattgctctgcagca	8	19	4	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:145660399C>T	ENST00000409379.3	-	19	3036		c.e19+1		AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein						cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCGGCTCACCTCGTCATTG	0.697																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.e19+1		tonsoku-like, DNA repair protein							22	24	23					8																	145660399		2200	4299	6499	SO:0001630	splice_region_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145660399C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3006+1G>A	8.37:g.145660399C>T								NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			19	3036	-								B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Splice_Site	SNP	ENST00000409379.3	37		CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774814	0.49786	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TONSL	145631207	1.000000	0.71417	0.965000	0.40720	0.431000	0.31685	7.097000	0.76967	2.218000	0.71995	0.491000	0.48974	.		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	Intron	31	80	0	0	0	1	0	31	80					T	145660399	C	T	145660399	5	4	17	1	0	0	0	0	0	0	1	0	10424	521	18	2	1161	2	NFKBIL2	8	145660399	Splice_Site	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	669369	145660399	703623	123	1990											
TOPORS	10210	broad.mit.edu	37	chr9	32542262	32542262	+	Frame_Shift_Del	DEL	T	T	-													acttcctctcactgtgattaTtttttttcctagcatttgtt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:32542262delT	ENST00000360538.2	-	3	2377	c.2261delA	c.(2260-2262)aatfs	p.N755fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	755	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGTGATTATTTTTTTTCCT	0.428																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2260-2262)atfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							112	117	115					9																	32542262		2203	4300	6503	SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542262delT	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2261delA	9.37:g.32542262delT	ENSP00000353735:p.Asn755fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	p.N755fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2377	-			755			Arg-rich.|Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.2261delA	CCDS6527.1																																																																																				0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		11	774						11	774	---	---	---	---	-	32542262	T	-	32542262	7	5	17	1	0	1	0	1	0	0	0	0	16423	1493	52	0	880	0	TOPORS	9	32542262	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08		32542262	108671169	124	1991											
KIF24	347240	broad.mit.edu	37	chr9	34256761	34256761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctctttcctgtctAtatatgaaatctacctgtga	4	13	3	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000402558.2	-	10	2868	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000379174.3_Silent_p.Y814Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2842-2844)taT>taC		kinesin family member 24							81	88	85					9																	34256761		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256761A>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2844T>C	9.37:g.34256761A>G						KIF24_ENST00000402558.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	p.Y948Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2963	-			948					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.2844T>C	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			139	313	0	0	0	1	0	139	313					G	34256761	A	G	34256761	2	3	17	1	0	0	0	0	0	0	0	1	8322	456	16	4		4	KIF24	9	34256761	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	1714499	34256761	106956670	125	1992											
TRPM3	80036	broad.mit.edu	37	chr9	73233816	73233816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcgcatgcggagccgGcccatccacatgtcggtgag	13	13	1	1	rs369163585		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:73233816G>A	ENST00000377111.2	-	16	2532	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	TRPM3_ENST00000396285.1_Silent_p.G610G|TRPM3_ENST00000377106.1_Silent_p.G635G|TRPM3_ENST00000423814.3_Silent_p.G790G|TRPM3_ENST00000360823.2_Silent_p.G625G|TRPM3_ENST00000396292.4_Silent_p.G635G|TRPM3_ENST00000377105.1_Silent_p.G622G|TRPM3_ENST00000358082.3_Silent_p.G625G|TRPM3_ENST00000408909.2_Silent_p.G622G|TRPM3_ENST00000396280.5_Silent_p.G612G|TRPM3_ENST00000377110.3_Silent_p.G763G|TRPM3_ENST00000357533.2_Silent_p.G767G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	788					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCGGAGCCGGCCCATCCACA	0.637																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2287-2289)ggC>ggT		transient receptor potential cation channel, subfamily M, member 3							63	55	58					9																	73233816		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73233816G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2289C>T	9.37:g.73233816G>A						TRPM3_ENST00000360823.2_Silent_p.G625G|TRPM3_ENST00000423814.3_Silent_p.G790G|TRPM3_ENST00000396292.4_Silent_p.G635G|TRPM3_ENST00000357533.2_Silent_p.G767G|TRPM3_ENST00000377105.1_Silent_p.G622G|TRPM3_ENST00000358082.3_Silent_p.G625G|TRPM3_ENST00000377106.1_Silent_p.G635G|TRPM3_ENST00000408909.2_Silent_p.G622G|TRPM3_ENST00000396280.5_Silent_p.G612G|TRPM3_ENST00000377111.2_Silent_p.G763G|TRPM3_ENST00000396285.1_Silent_p.G610G	p.G763G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			16	2532	-			788					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2289C>T		.	.	.	.	.	.	.	.	.	.	G	10.76	1.439904	0.25900	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.65	-0.694	0.11294	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	-25.7501	1.7188	0.02907	0.3397:0.2102:0.3374:0.1127	.	.	.	.	S	612	.	.	P	-	1	0	TRPM3	72423636	0.984000	0.35163	0.988000	0.46212	0.997000	0.91878	0.094000	0.15107	-0.288000	0.09051	0.655000	0.94253	CCG		0.637	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		4	284	0	0	0	1	0	4	284					A	73233816	G	A	73233816	2	1	17	1	0	0	0	0	0	0	0	1	16640	1190	42	2		2	TRPM3	9	73233816	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	38977055	73233816	67979615	126	1993											
RORB	6096	broad.mit.edu	37	chr9	77249648	77249648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccgttgccaacactgCcgactgcagaagtgtcttgc	10	12	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:77249648C>T	ENST00000396204.2	+	3	228	c.228C>T	c.(226-228)tgC>tgT	p.C76C	RORB_ENST00000376896.3_Silent_p.C65C			Q92753	RORB_HUMAN	RAR-related orphan receptor B	76					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GCCAACACTGCCGACTGCAGA	0.448																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(193-195)tgC>tgT		RAR-related orphan receptor B							85	79	81					9																	77249648		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77249648C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.228C>T	9.37:g.77249648C>T						RORB_ENST00000396204.2_Silent_p.C76C	p.C65C	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			3	807	+			76					Q8WX73	Silent	SNP	ENST00000396204.2	37	c.195C>T																																																																																					0.448	RORB-201	KNOWN	basic	protein_coding	protein_coding				6	348	0	0	0	1	0	6	348					T	77249648	C	T	77249648	2	4	17	1	0	0	0	0	0	0	0	1	13579	747	26	2		2	RORB	9	77249648	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4015832	77249648	63963783	127	1994											
SUSD3	203328	broad.mit.edu	37	chr9	95841808	95841808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggagacggtgcaggccGcataccttggcctcaagcac	12	13	1	1	rs533389735		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:95841808G>A	ENST00000375472.3	+	4	517	c.481G>A	c.(481-483)Gca>Aca	p.A161T	SUSD3_ENST00000375469.1_Missense_Mutation_p.A148T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	161						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGTGCAGGCCGCATACCTTGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0					ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(481-483)Gca>Aca		sushi domain containing 3							79	68	72					9																	95841808		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95841808G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.481G>A	9.37:g.95841808G>A	ENSP00000364621:p.Ala161Thr					SUSD3_ENST00000375469.1_Missense_Mutation_p.A148T	p.A161T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			4	517	+			161					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.481G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458085	0.12342	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.63417	-0.04;0.39	4.97	-1.88	0.07713	.	0.503595	0.19627	N	0.109778	T	0.44138	0.1279	L	0.50333	1.59	0.09310	N	1	P;P	0.46706	0.883;0.814	B;B	0.37091	0.241;0.122	T	0.40942	-0.9536	10	0.45353	T	0.12	-8.9439	4.6085	0.12389	0.0754:0.1228:0.2986:0.5032	.	148;161	Q96L08-2;Q96L08	.;SUSD3_HUMAN	T	161;148	ENSP00000364621:A161T;ENSP00000364618:A148T	ENSP00000364618:A148T	A	+	1	0	SUSD3	94881629	0.553000	0.26513	0.000000	0.03702	0.022000	0.10575	0.852000	0.27764	-0.458000	0.07023	-0.175000	0.13238	GCA		0.607	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		4	204	0	0	0	1	0	4	204					A	95841808	G	A	95841808	3	1	17	1	0	0	0	0	1	0	0	0	15461	1087	38	1	495	1	SUSD3	9	95841808	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	18592160	95841808	45371623	128	1995											
COL15A1	1306	broad.mit.edu	37	chr9	101797339	101797339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggacccccggggaaaaAgggacaagctggccctcctg	13	14	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:101797339A>G	ENST00000375001.3	+	18	2546	c.2123A>G	c.(2122-2124)aAg>aGg	p.K708R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGGGAAAAAGGGACAAGCT	0.617																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2122-2124)aAg>aGg		collagen, type XV, alpha 1							48	48	48					9																	101797339		2202	4299	6501	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797339A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2123A>G	9.37:g.101797339A>G	ENSP00000364140:p.Lys708Arg						p.K708R	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			18	2546	+		Acute lymphoblastic leukemia(62;0.0562)	708			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2123A>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763906	0.15914	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.93547	-3.24	5.69	4.53	0.55603	.	0.498001	0.19952	N	0.102410	T	0.80654	0.4664	N	0.01482	-0.84	0.19300	N	0.999977	B	0.14438	0.01	B	0.16722	0.016	T	0.68969	-0.5269	10	0.26408	T	0.33	-4.0721	9.8533	0.41070	0.8277:0.1723:0.0:0.0	.	708	P39059	COFA1_HUMAN	R	708;678	ENSP00000364140:K708R	ENSP00000364140:K708R	K	+	2	0	COL15A1	100837160	0.371000	0.25056	0.707000	0.30419	0.304000	0.27724	1.029000	0.30140	0.961000	0.38030	0.533000	0.62120	AAG		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	577	0	0	0	1	0	5	577					G	101797339	A	G	101797339	3	3	17	1	0	0	0	0	1	0	0	0	3681	72	3	4	2193	4	COL15A1	9	101797339	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	5955531	101797339	39416092	129	1996											
MUSK	4593	broad.mit.edu	37	chr9	113562883	113562883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggtggtgaaaattgCcgactttggcctctccagga	12	9	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:113562883C>T	ENST00000374448.4	+	15	2359	c.2225C>T	c.(2224-2226)gCc>gTc	p.A742V	MUSK_ENST00000189978.5_Missense_Mutation_p.A742V|MUSK_ENST00000416899.2_Missense_Mutation_p.A734V	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	742	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGAAAATTGCCGACTTTGGC	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2200-2202)gCc>gTc		muscle, skeletal, receptor tyrosine kinase							162	162	162					9																	113562883		1993	4172	6165	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562883C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2225C>T	9.37:g.113562883C>T	ENSP00000363571:p.Ala742Val					MUSK_ENST00000374448.4_Missense_Mutation_p.A742V|MUSK_ENST00000189978.5_Missense_Mutation_p.A742V	p.A734V			O15146	MUSK_HUMAN			13	2327	+			742			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2201C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769236	0.69992	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.84442	-1.85	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91974	0.5589	10	0.87932	D	0	.	18.6395	0.91390	0.0:1.0:0.0:0.0	.	742	O15146	MUSK_HUMAN	V	748;742;742;656;656;740	ENSP00000363571:A742V	ENSP00000189978:A748V	A	+	2	0	MUSK	112602704	1.000000	0.71417	0.858000	0.33744	0.057000	0.15508	7.772000	0.85439	2.705000	0.92388	0.650000	0.86243	GCC		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	932	0	0	0	1	0	6	932					T	113562883	C	T	113562883	3	4	17	1	0	0	0	0	1	0	0	0	10030	739	26	2	2315	2	MUSK	9	113562883	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	11765544	113562883	27650548	130	1997											
SLC25A25	114789	broad.mit.edu	37	chr9	130869557	130869557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctattgagggcgctcCggaggtgaccatgagcagcc	14	12	1	3	rs373230180		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:130869557C>T	ENST00000373064.5	+	10	1507	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P449L|SLC25A25_ENST00000373066.5_Missense_Mutation_p.P447L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P435L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P312L|SLC25A25_ENST00000373069.5_Missense_Mutation_p.P461L	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	415					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGGCGCTCCGGAGGTGACC	0.632																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(1339-1341)cCg>cTg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	52	57	55		1346,1304,935,1244	4.7	0	9		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC25A25	NM_001006641.1,NM_001006642.1,NM_001006643.1,NM_052901.2	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	449/504,435/490,312/367,415/470	130869557	1,13005	2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130869557C>T	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.1244C>T	9.37:g.130869557C>T	ENSP00000362155:p.Pro415Leu					SLC25A25_ENST00000373069.5_Missense_Mutation_p.P461L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P449L|SLC25A25_ENST00000373064.5_Missense_Mutation_p.P415L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P312L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P435L	p.P447L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			11	1747	+			415					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.1340C>T	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057177	0.36277	0.0	1.16E-4	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.62	4.71	0.59529	Mitochondrial carrier domain (2);	0.051852	0.85682	D	0.000000	T	0.79941	0.4533	L	0.58810	1.83	0.80722	D	1	B;P;P;D	0.56521	0.354;0.72;0.556;0.976	B;B;B;P	0.49361	0.132;0.222;0.14;0.608	T	0.80910	-0.1171	10	0.48119	T	0.1	-15.6239	15.7517	0.77992	0.0:0.8635:0.1365:0.0	.	415;447;435;449	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	L	449;461;435;447;415;312	ENSP00000362159:P449L;ENSP00000362160:P461L;ENSP00000410053:P435L;ENSP00000362157:P447L;ENSP00000362155:P415L;ENSP00000401672:P312L	ENSP00000362155:P415L	P	+	2	0	SLC25A25	129909378	1.000000	0.71417	0.045000	0.18777	0.536000	0.34869	4.824000	0.62701	1.354000	0.45846	0.655000	0.94253	CCG		0.632	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		6	558	0	0	0	1	0	6	558					T	130869557	C	T	130869557	3	4	17	1	0	0	0	0	1	0	0	0	14538	652	23	1	1770	1	SLC25A25	9	130869557	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	17306674	130869557	10343874	131	1998											
CCBL1	883	broad.mit.edu	37	chr9	131597922	131597922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagagcagctgctcccGttcaaagctctcggctactg	12	13	2	1	rs369761548		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:131597922G>A	ENST00000302586.3	-	10	1042	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.R388W|CCBL1_ENST00000320665.6_Missense_Mutation_p.R244W	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	294					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AGCTGCTCCCGTTCAAAGCTC	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1162-1164)Cgg>Tgg		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						36	39	38					9																	131597922		2083	4214	6297	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597922G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.880C>T	9.37:g.131597922G>A	ENSP00000302227:p.Arg294Trp					CCBL1_ENST00000302586.3_Missense_Mutation_p.R294W|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R244W	p.R388W			Q16773	KAT1_HUMAN			12	1311	-			294					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1162C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	4.106	0.017792	0.07959	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90788	-2.73;-2.73;-2.73	5.3	1.33	0.21861	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.292468	0.36303	N	0.002673	D	0.84238	0.5428	M	0.72353	2.195	0.22330	N	0.999199	P;P;B;P	0.41041	0.736;0.457;0.35;0.457	B;B;B;B	0.30782	0.12;0.053;0.048;0.053	T	0.76211	-0.3042	10	0.54805	T	0.06	-22.8063	4.1211	0.10106	0.2372:0.0:0.375:0.3877	.	388;294;244;294	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	W	294;244;388	ENSP00000302227:R294W;ENSP00000317342:R244W;ENSP00000399415:R388W	ENSP00000302227:R294W	R	-	1	2	CCBL1	130637743	0.003000	0.15002	0.028000	0.17463	0.025000	0.11179	1.263000	0.33004	-0.020000	0.14032	-0.436000	0.05848	CGG		0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			5	266	0	0	0	1	0	5	266					A	131597922	G	A	131597922	3	1	17	1	0	0	0	0	1	0	0	0	2739	1144	40	1	404	1	CCBL1	9	131597922	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	728365	131597922	9615509	132	1999											
C9orf69	90120	broad.mit.edu	37	chr9	139008444	139008446	+	In_Frame_Del	DEL	CAG	CAG	-													aagtccacgcgccggcggccCagcagcagcagcagcaccga							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139008444_139008446delCAG	ENST00000418388.1	-	2	803_805	c.301_303delCTG	c.(301-303)ctgdel	p.L101del	C9orf69_ENST00000561457.1_In_Frame_Del_p.C125del			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	101					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685																																						ENST00000561457.1																			0				endometrium(1)	1						c.(373-378)tgg>tg		chromosome 9 open reading frame 69				105,3965		8,89,1938						5.1	1			23	180,7946		12,156,3895	no	coding	C9orf69	NM_152833.2		20,245,5833	A1A1,A1R,RR		2.2151,2.5799,2.3368				285,11911				SO:0001651	inframe_deletion	90120							g.chr9:139008444_139008446delCAG		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.301_303delCTG	9.37:g.139008453_139008455delCAG	ENSP00000453019:p.Leu101del					C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del	p.CW125del	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	825_827	-		Myeloproliferative disorder(178;0.0511)							In_Frame_Del	DEL	ENST00000418388.1	37	c.375_377delCTG	CCDS59155.1																																																																																				0.685	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		7	226						7	226	---	---	---	---	-	139008446	CAG	-	139008444	7	5	17	1	0	1	0	1	0	0	0	0	2499	595	21	0	34	0	C9orf69	9	139008444	In_Frame_Del	DEL	CAG	TCGA-2L-AAQA-01A-21D-A38G-08	7410522	139008444	2204987	133	2000											
GPSM1	26086	broad.mit.edu	37	chr9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgctggagggcgagCgtctgtgcaaggcgggcgac	20	10	1	0	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(109-111)Cgt>Tgt		G-protein signaling modulator 1							55	52	53					9																	139228944		2202	4299	6501	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139228944C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.109C>T	9.37:g.139228944C>T	ENSP00000392828:p.Arg37Cys					GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	p.R37C	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	329	+		Myeloproliferative disorder(178;0.0821)	37			Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.109C>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899125	0.72754	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.75477	-0.94;-0.94;-0.0	4.66	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.84397	0.5463	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-12.3547	14.5162	0.67821	0.1569:0.8431:0.0:0.0	.	37;37	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	37;37;14	ENSP00000376674:R37C;ENSP00000392828:R37C;ENSP00000346797:R14C	ENSP00000346797:R14C	R	+	1	0	GPSM1	138348765	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.805000	0.38883	2.113000	0.64589	0.556000	0.70494	CGT		0.652	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		24	99	0	0	0	1	0	24	99					T	139228944	C	T	139228944	3	4	17	1	0	0	0	0	1	0	0	0	6764	768	27	1	115	1	GPSM1	9	139228944	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	220500	139228944	1984487	134	2001											
SLC34A3	142680	broad.mit.edu	37	chr9	140130637	140130637	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggggtcccctggtgggGctggtgctcctcgtcatcct	16	13	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140130637G>T	ENST00000538474.1	+	13	1793	c.1569G>T	c.(1567-1569)ggG>ggT	p.G523G	SLC34A3_ENST00000361134.2_Silent_p.G523G	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	523					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCTGGTGGGGCTGGTGCTCC	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1567-1569)ggG>ggT		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							16	13	14					9																	140130637		2136	4213	6349	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130637G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1569G>T	9.37:g.140130637G>T			OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Silent_p.G523G	p.G523G	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1793	+	all_cancers(76;0.0926)		523					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1569G>T	CCDS7038.1																																																																																				0.726	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		4	76	1	0	1	1	1	4	76					T	140130637	G	T	140130637	2	4	17	1	0	0	0	0	0	0	0	1	14619	1190	42	3		3	SLC34A3	9	140130637	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	901693	140130637	1082794	135	2002											
ARRDC1	92714	broad.mit.edu	37	chr9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-													ggggctcatgcagccatcccCtttgcagccatccgggtgac					rs374081670|rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.e2-1		arrestin domain containing 1																																				SO:0001630	splice_region_variant	92714							g.chr9:140507340_140507354delCTTTGCAGCCATCCG	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.119-1CTTTGCAGCCATCCG>-	9.37:g.140507340_140507354delCTTTGCAGCCATCCG						ARRDC1_ENST00000491911.1_3'UTR	p.40_splice	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	2	182_189	+	all_cancers(76;0.106)		40						Splice_Site	DEL	ENST00000371421.4	37	c.118_splice	CCDS7049.1																																																																																				0.633	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285	In_Frame_Del	34	111						34	111	---	---	---	---	-	140507354	CTTTGCAGCCATCCG	-	140507340	8	5	17	1	0	1	0	1	0	0	1	0	983	696	24	0		0	ARRDC1	9	140507340	Splice_Site	DEL	CTTTGCAGCCATCCG	TCGA-2L-AAQA-01A-21D-A38G-08	376703	140507340	706091	136	2003											
SYT15	83849	broad.mit.edu	37	chr10	46967615	46967615	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctgctcatattccacCgagaaccacagccgccccag	7	19	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:46967615C>A	ENST00000374321.4	-	4	528	c.462G>T	c.(460-462)tcG>tcT	p.S154S	SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374323.4_Silent_p.S207S|SYT15_ENST00000374325.3_Silent_p.S154S|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATATTCCACCGAGAACCACA	0.622																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(619-621)tcG>tcT		synaptotagmin XV							53	66	62					10																	46967615		2036	4187	6223	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46967615C>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.462G>T	10.37:g.46967615C>A						SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374325.3_Silent_p.S154S|SYT15_ENST00000374321.4_Silent_p.S154S	p.S207S			Q9BQS2	SYT15_HUMAN			3	1208	-			154			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.621G>T	CCDS44376.1																																																																																				0.622	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		5	469	1	0	1	1	1	5	469					A	46967615	C	A	46967615	2	1	17	1	0	0	0	0	0	0	0	1	15523	639	23	3		3	SYT15	10	46967615	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		46967615	88567132	137	2004											
A1CF	29974	broad.mit.edu	37	chr10	52573792	52573792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagtcctctcactcccGcagcccctacaggtacattc	6	20	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:52573792G>A	ENST00000373993.1	-	8	1216	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	A1CF_ENST00000373995.3_Missense_Mutation_p.A391V|A1CF_ENST00000395495.1_Missense_Mutation_p.A336V|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.A383V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.2_Missense_Mutation_p.A383V|A1CF_ENST00000395489.2_Missense_Mutation_p.A384V|A1CF_ENST00000282641.2_Missense_Mutation_p.A391V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	391	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCACTCCCGCAGCCCCTAC	0.468																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1150-1152)gCg>gTg		APOBEC1 complementation factor							63	67	65					10																	52573792		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573792G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1172C>T	10.37:g.52573792G>A	ENSP00000363105:p.Ala391Val					ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.A391V|A1CF_ENST00000395495.1_Missense_Mutation_p.A336V|A1CF_ENST00000374001.1_Missense_Mutation_p.A383V|A1CF_ENST00000282641.2_Missense_Mutation_p.A391V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.A391V|A1CF_ENST00000373997.3_Missense_Mutation_p.A383V	p.A384V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1547	-			391			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1151C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291289	0.95546	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.14266	2.69;2.69;2.69;2.68;2.69;2.52;2.69	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.997;0.964;1.0;0.997	P;B;D;D	0.66084	0.806;0.355;0.941;0.922	T	0.00516	-1.1694	10	0.39692	T	0.17	-7.0078	17.713	0.88327	0.0:0.0:1.0:0.0	.	384;391;383;391	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	383;391;383;391;391;336;366;384	ENSP00000363113:A383V;ENSP00000363105:A391V;ENSP00000363109:A383V;ENSP00000363107:A391V;ENSP00000282641:A391V;ENSP00000378873:A336V;ENSP00000378868:A384V	ENSP00000282641:A391V	A	-	2	0	A1CF	52243798	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.230000	0.95299	2.780000	0.95670	0.655000	0.94253	GCG		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		5	347	0	0	0	1	0	5	347					A	52573792	G	A	52573792	3	1	17	1	0	0	0	0	1	0	0	0	2	1087	38	1	628	1	A1CF	10	52573792	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5606177	52573792	82960955	138	2005											
GRID1	2894	broad.mit.edu	37	chr10	88126102	88126102	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagtcggcccgcaccgaCacgcactggcatatccaggg	13	14	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:88126102C>A	ENST00000327946.7	-	1	133	c.48G>T	c.(46-48)gtG>gtT	p.V16V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	16					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCCGCACCGACACGCACTGGC	0.751										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(46-48)gtG>gtT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						15	14	14					10																	88126102		2134	4176	6310	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88126102C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.48G>T	10.37:g.88126102C>A		Multiple Myeloma(13;0.14)					p.V16V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			1	133	-			16					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.48G>T	CCDS31236.1																																																																																				0.751	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	37	1	0	1	1	1	3	37					A	88126102	C	A	88126102	2	1	17	1	0	0	0	0	0	0	0	1	6801	465	17	3		3	GRID1	10	88126102	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	35552310	88126102	47408645	139	2006											
MINPP1	9562	broad.mit.edu	37	chr10	89264991	89264991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagctgaggcagctgcacGggttgctgcaggcccgcggg	18	12	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:89264991G>T	ENST00000371996.4	+	1	360	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	MINPP1_ENST00000536010.1_5'Flank|MINPP1_ENST00000371994.4_Missense_Mutation_p.G107W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	107					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCAGCTGCACGGGTTGCTGCA	0.697											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(319-321)Ggg>Tgg		multiple inositol-polyphosphate phosphatase 1							16	21	19					10																	89264991		2200	4298	6498	SO:0001583	missense	0				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89264991G>T	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.319G>T	10.37:g.89264991G>T	ENSP00000361064:p.Gly107Trp		OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1266	MINPP1_ENST00000371994.4_Missense_Mutation_p.G107W	p.G107W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	1	360	+		Colorectal(252;0.122)	107					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.319G>T	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904304	0.72868	.	.	ENSG00000107789	ENST00000371996;ENST00000371994	T;T	0.76316	-1.01;-1.01	4.92	4.92	0.64577	.	0.121094	0.64402	D	0.000010	D	0.85444	0.5698	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.95	D	0.86863	0.2031	10	0.72032	D	0.01	-8.0416	15.9697	0.80004	0.0:0.0:1.0:0.0	.	107;107	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	W	107	ENSP00000361064:G107W;ENSP00000361062:G107W	ENSP00000361062:G107W	G	+	1	0	MINPP1	89254971	0.387000	0.25188	1.000000	0.80357	0.791000	0.44710	0.766000	0.26560	2.423000	0.82170	0.563000	0.77884	GGG		0.697	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			4	71	1	0	0.00909568	1	0.0101999	4	71					T	89264991	G	T	89264991	3	4	17	1	0	0	0	0	1	0	0	0	9629	1116	39	3	321	3	MINPP1	10	89264991	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1138889	89264991	46269756	140	2007											
RPP30	10556	broad.mit.edu	37	chr10	92631768	92631768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtttgcagatttggacCtgcgagcgggttctgacctg	15	9	1	2	rs201210847	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:92631768C>A	ENST00000371703.3	+	1	296	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	RPP30_ENST00000413330.1_Missense_Mutation_p.L9M	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	9					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AGATTTGGACCTGCGAGCGGG	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		15159	0.002		0.0	False		,,,				2504	0.0					ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(25-27)Ctg>Atg		ribonuclease P/MRP 30kDa subunit							132	136	135					10																	92631768		2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92631768C>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.25C>A	10.37:g.92631768C>A	ENSP00000360768:p.Leu9Met					RPP30_ENST00000371703.3_Missense_Mutation_p.L9M	p.L9M	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			1	60	+			9					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.25C>A	CCDS7411.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.25	1.583213	0.28268	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882	T;T;T	0.57907	0.73;0.68;0.37	5.41	-2.62	0.06152	Polymerase/histidinol phosphatase-like (1);	0.386912	0.24126	N	0.041307	T	0.44456	0.1294	L	0.40543	1.245	0.09310	N	1	D;D;D	0.60575	0.974;0.966;0.988	P;P;P	0.54664	0.694;0.564;0.758	T	0.44907	-0.9297	10	0.66056	D	0.02	-0.4877	0.9317	0.01336	0.1935:0.3439:0.1932:0.2694	.	9;9;9	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	M	9	ENSP00000360768:L9M;ENSP00000389182:L9M;ENSP00000277882:L9M	ENSP00000277882:L9M	L	+	1	2	RPP30	92621748	0.000000	0.05858	0.002000	0.10522	0.100000	0.18952	-1.658000	0.01977	-1.114000	0.02977	-2.443000	0.00211	CTG		0.672	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		6	1062	1	0	1	1	1	6	1062					A	92631768	C	A	92631768	3	1	17	1	0	0	0	0	1	0	0	0	13662	680	24	3	27	3	RPP30	10	92631768	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3366777	92631768	42902979	141	2008											
CRTAC1	55118	broad.mit.edu	37	chr10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgcgctcatcgaccGcgatgttcaccagccgcttc	11	15	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(286-288)gCg>gTg		cartilage acidic protein 1							59	50	53					10																	99696061		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696061G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.287C>T	10.37:g.99696061G>A	ENSP00000359629:p.Ala96Val					CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	642	-		Colorectal(252;0.24)	96					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.287C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184476	0.78677	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.704;0.999	T	0.43523	-0.9386	10	0.27785	T	0.31	-10.778	17.7665	0.88480	0.0:0.0:1.0:0.0	.	96;96	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	96;96;88;96	ENSP00000359629:A96V;ENSP00000298819:A96V;ENSP00000310810:A88V;ENSP00000359623:A96V	ENSP00000298819:A96V	A	-	2	0	CRTAC1	99686051	1.000000	0.71417	0.892000	0.35008	0.640000	0.38277	9.725000	0.98778	2.204000	0.70986	0.313000	0.20887	GCG		0.662	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		64	204	0	0	0	1	0	64	204					A	99696061	G	A	99696061	3	1	17	1	0	0	0	0	1	0	0	0	3905	1087	38	1	1750	1	CRTAC1	10	99696061	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	7064293	99696061	35838686	142	2009											
FAM178A	55719	broad.mit.edu	37	chr10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaagagaacagagagtCctggggacaggtaccgtgca	16	8	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.4	+	1	672	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S|RP11-179B2.2_ENST00000608554.1_RNA|FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACAGAGAGTCCTGGGGACAG	0.682																																						ENST00000238961.3																			0											c.(130-132)Cct>Tct		family with sequence similarity 178, member A							22	24	23					10																	102672997		2199	4300	6499	SO:0001583	missense	0							g.chr10:102672997C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.130C>T	10.37:g.102672997C>T	ENSP00000238961:p.Pro44Ser					FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			1	278	+			44					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.130C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545875	0.86022	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61392	0.11;0.85;0.81	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000044	T	0.63745	0.2537	N	0.24115	0.695	0.35168	D	0.771306	D;D;D	0.89917	0.995;0.995;1.0	D;D;D	0.87578	0.919;0.919;0.998	T	0.72204	-0.4361	10	0.72032	D	0.01	-15.2639	14.5237	0.67873	0.0:1.0:0.0:0.0	.	44;44;44	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	S	44	ENSP00000359294:P44S;ENSP00000238961:P44S;ENSP00000359292:P44S	ENSP00000238961:P44S	P	+	1	0	FAM178A	102662987	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	CCT		0.682	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			16	28	0	0	0	1	0	16	28					T	102672997	C	T	102672997	3	4	17	1	0	0	0	0	1	0	0	0	5524	855	30	2	132	2	FAM178A	10	102672997	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2976936	102672997	32861750	143	2010											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363058	105363058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggagtcgctgtccccGgaggagcctctggctgacag	16	13	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:105363058G>A	ENST00000369774.4	-	15	2193	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S611S|SH3PXD2A_ENST00000538130.1_Silent_p.S474S|SH3PXD2A_ENST00000540321.1_Silent_p.S506S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	639	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCTGTCCCCGGAGGAGCCTC	0.582																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1915-1917)tcC>tcT		SH3 and PX domains 2A							85	100	95					10																	105363058		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363058G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1917C>T	10.37:g.105363058G>A						SH3PXD2A_ENST00000540321.1_Silent_p.S506S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.S474S|SH3PXD2A_ENST00000355946.2_Silent_p.S611S	p.S639S			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2193	-		Colorectal(252;0.0815)|Breast(234;0.131)	639			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1917C>T		.	.	.	.	.	.	.	.	.	.	g	2.928	-0.221668	0.06061	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.37647	D	0.922262	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-21.6225	6.1235	0.20165	0.406:0.0848:0.4253:0.0839	.	.	.	.	W	566	.	.	R	-	1	2	SH3PXD2A	105353048	0.779000	0.28652	0.666000	0.29783	0.854000	0.48673	-0.066000	0.11598	-1.859000	0.01156	-2.912000	0.00091	CGG		0.582	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	923	0	0	0	1	0	6	923					A	105363058	G	A	105363058	2	1	17	1	0	0	0	0	0	0	0	1	14306	1103	39	1		1	SH3PXD2A	10	105363058	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2690061	105363058	30171689	144	2011											
EIF3A	8661	broad.mit.edu	37	chr10	120819136	120819136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtcgcaatgcctggctGcatctactatggcccgttcc	10	14	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:120819136G>A	ENST00000369144.3	-	10	1548	c.1421C>T	c.(1420-1422)gCa>gTa	p.A474V	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.A440V	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)			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)		ATGCCTGGCTGCATCTACTAT	0.463																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1420-1422)gCa>gTa		eukaryotic translation initiation factor 3, subunit A							91	84	86					10																	120819136		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.chr10:120819136G>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.1421C>T	10.37:g.120819136G>A	ENSP00000358140:p.Ala474Val					EIF3A_ENST00000541549.1_Missense_Mutation_p.A440V|EIF3A_ENST00000478852.1_Intron	p.A474V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	10	1548	-		Lung NSC(174;0.094)|all_lung(145;0.123)	474			PCI.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1421C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968666	0.92855	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.36157	1.27;1.27	5.78	5.78	0.91487	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.39020	N	0.001485	T	0.67211	0.2869	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70506	-0.4853	10	0.66056	D	0.02	-20.1385	20.0203	0.97492	0.0:0.0:1.0:0.0	.	474	Q14152	EIF3A_HUMAN	V	474;440	ENSP00000358140:A474V;ENSP00000438178:A440V	ENSP00000358140:A474V	A	-	2	0	EIF3A	120809126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.827000	0.99397	2.730000	0.93505	0.655000	0.94253	GCA		0.463	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		6	391	0	0	0	1	0	6	391					A	120819136	G	A	120819136	3	1	17	1	0	0	0	0	1	0	0	0	5028	1319	46	2	2779	2	EIF3A	10	120819136	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	15456078	120819136	14715611	145	2012											
TIAL1	7073	broad.mit.edu	37	chr10	121336158	121336158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgattccatggttgcccGtatactccataaggcggtac	10	10	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:121336158G>A	ENST00000436547.2	-	11	1010	c.966C>T	c.(964-966)taC>taT	p.Y322Y	TIAL1_ENST00000369093.2_Silent_p.Y339Y|TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369092.4_Silent_p.Y199Y	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	322					apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ATGGTTGCCCGTATACTCCAT	0.413																																						ENST00000369092.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(595-597)taC>taT		TIA1 cytotoxic granule-associated RNA binding protein-like 1							193	176	182					10																	121336158		2203	4300	6503	SO:0001819	synonymous_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121336158G>A	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.966C>T	10.37:g.121336158G>A						TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369093.2_Silent_p.Y339Y|TIAL1_ENST00000436547.2_Silent_p.Y322Y	p.Y199Y			Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	12	1905	-		Lung NSC(174;0.094)|all_lung(145;0.123)	322					A8K3T0|A8K4L9	Silent	SNP	ENST00000436547.2	37	c.597C>T	CCDS7613.1																																																																																				0.413	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		6	851	0	0	0	1	0	6	851					A	121336158	G	A	121336158	2	1	17	1	0	0	0	0	0	0	0	1	15941	1140	40	1		1	TIAL1	10	121336158	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	517022	121336158	14198589	146	2013											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	8	15	2	0	rs147065829		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1069-1071)cGt>cAt		leucine rich repeat containing 27		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	151	146		975,975,1070,975	-8.8	0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368610.3_Silent_p.P263P	p.R357H			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1265	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1070G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		7	1282	0	0	0	1	0	7	1282					A	134165159	G	A	134165159	2	1	17	1	0	0	0	0	0	0	0	1	9019	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	12829001	134165159	1369588	147	2014											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {ECO:0000305}.	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.S2130delS(1)		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)		GGGAGAAAATGAGGAGGACAGCT	0.522																																						ENST00000421673.2																			1	Deletion - In frame(1)	p.S2130delS(1)	stomach(1)	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						c.(6385-6390)tca>tc		mucin 6, oligomeric mucus/gel-forming				1,3949		0,1,1974						2.9	0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016412_1016414delGAG	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.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del						p.SS2129del	NM_005961.2	NP_005952.2	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	6437_6439	-		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)	2129	S -> F (in Ref. 6; BAC04860).		Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.6387_6389delCTC	CCDS44513.1																																																																																				0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		57	152						57	152	---	---	---	---	-	1016414	GAG	-	1016412	7	5	17	1	0	1	0	1	0	0	0	0	10021	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-2L-AAQA-01A-21D-A38G-08		1016412	133990104	148	2015											
CHRNA10	57053	broad.mit.edu	37	chr11	3688985	3688985	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggaacctggaggctgCgcgtcggctctgggggcagg	20	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:3688985C>A	ENST00000250699.2	-	4	443	c.372G>T	c.(370-372)gcG>gcT	p.A124A	CHRNA10_ENST00000534359.1_5'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	124					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)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CTGGAGGCTGCGCGTCGGCTC	0.751																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(370-372)gcG>gcT		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						5	5	5					11																	3688985		1888	3787	5675	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688985C>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.372G>T	11.37:g.3688985C>A						CHRNA10_ENST00000534359.1_5'UTR	p.A124A	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	443	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	124						Silent	SNP	ENST00000250699.2	37	c.372G>T	CCDS7745.1																																																																																				0.751	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			3	59	1	0	6.4e-05	1	7.488e-05	3	59					A	3688985	C	A	3688985	2	1	17	1	0	0	0	0	0	0	0	1	3391	755	27	3		3	CHRNA10	11	3688985	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2672573	3688985	131317531	149	2016											
OR51E1	143503	broad.mit.edu	37	chr11	4673891	4673891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttattgctgtgctaggtaaCttgacaatcatctacattgt	7	8	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:4673891C>A	ENST00000396952.5	+	2	785	c.135C>A	c.(133-135)aaC>aaA	p.N45K	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTAGGTAACTTGACAATCA	0.468																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(133-135)aaC>aaA		olfactory receptor, family 51, subfamily E, member 1							234	174	194					11																	4673891		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4673891C>A	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.135C>A	11.37:g.4673891C>A	ENSP00000380155:p.Asn45Lys					OR51E1_ENST00000530215.1_Intron	p.N45K	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	785	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	44					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.135C>A	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643415	0.47258	.	.	ENSG00000180785	ENST00000396952	D	0.96619	-4.07	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	D	0.99036	0.9670	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98951	1.0794	10	0.87932	D	0	.	16.7377	0.85451	0.0:1.0:0.0:0.0	.	44	Q8TCB6	O51E1_HUMAN	K	45	ENSP00000380155:N45K	ENSP00000380155:N45K	N	+	3	2	OR51E1	4630467	0.003000	0.15002	0.993000	0.49108	0.476000	0.33039	0.203000	0.17315	2.530000	0.85305	0.655000	0.94253	AAC		0.468	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		5	506	1	0	0.000602214	1	0.000690775	5	506					A	4673891	C	A	4673891	3	1	17	1	0	0	0	0	1	0	0	0	11136	564	20	3	137	3	OR51E1	11	4673891	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	984906	4673891	130332625	150	2017											
OR51Q1	390061	broad.mit.edu	37	chr11	5443794	5443794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcctggctatgtccGttgactgctatgtggccatc	10	13	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:5443794G>A	ENST00000300778.4	+	1	454	c.364G>A	c.(364-366)Gtt>Att	p.V122I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATGTCCGTTGACTGCTA	0.478																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(364-366)Gtt>Att		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							223	189	201					11																	5443794		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443794G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.364G>A	11.37:g.5443794G>A	ENSP00000300778:p.Val122Ile					HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.V122I	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	454	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	122					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.364G>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343069	0.24339	.	.	ENSG00000167360	ENST00000300778	T	0.00892	5.57	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.374552	0.23494	N	0.047575	T	0.00754	0.0025	N	0.08118	0	0.20196	N	0.999926	B	0.09022	0.002	B	0.01281	0.0	T	0.49688	-0.8913	10	0.62326	D	0.03	.	10.6278	0.45519	0.0:0.0:0.3051:0.6949	.	122	Q8NH59	O51Q1_HUMAN	I	122	ENSP00000300778:V122I	ENSP00000300778:V122I	V	+	1	0	OR51Q1	5400370	0.016000	0.18221	1.000000	0.80357	0.604000	0.37047	1.074000	0.30703	0.911000	0.36747	-2.108000	0.00357	GTT		0.478	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	786	0	0	0	1	0	7	786					A	5443794	G	A	5443794	3	1	17	1	0	0	0	0	1	0	0	0	11146	1145	40	1	366	1	OR51Q1	11	5443794	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	769903	5443794	129562722	151	2018											
TRIM3	10612	broad.mit.edu	37	chr11	6472245	6472245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatgtccattccggtctaCggccactcccttggggccca	10	15	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:6472245C>T	ENST00000525074.1	-	9	2141	c.1747G>A	c.(1747-1749)Gta>Ata	p.V583I	TRIM3_ENST00000536344.1_Missense_Mutation_p.V464I|TRIM3_ENST00000359518.3_Missense_Mutation_p.V583I|TRIM3_ENST00000345851.3_Missense_Mutation_p.V583I|TRIM3_ENST00000537602.1_Missense_Mutation_p.V505I	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	583					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCGGTCTACGGCCACTCCC	0.537																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1747-1749)Gta>Ata		tripartite motif containing 3							59	56	57					11																	6472245		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472245C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1747G>A	11.37:g.6472245C>T	ENSP00000433102:p.Val583Ile					TRIM3_ENST00000537602.1_Missense_Mutation_p.V505I|TRIM3_ENST00000536344.1_Missense_Mutation_p.V464I|TRIM3_ENST00000359518.3_Missense_Mutation_p.V583I|TRIM3_ENST00000345851.3_Missense_Mutation_p.V583I	p.V583I	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	2141	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	583					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1747G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536636	0.85812	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.25	4.34	0.51931	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86060	0.1531	10	0.39692	T	0.17	-13.7451	12.7769	0.57453	0.0:0.9209:0.0:0.0791	.	464;583	F5H2Q8;O75382	.;TRIM3_HUMAN	I	583;583;583;583;572;505;583;464	ENSP00000433102:V583I;ENSP00000340797:V583I;ENSP00000441091:V505I;ENSP00000352508:V583I;ENSP00000445460:V464I	ENSP00000337094:V572I	V	-	1	0	TRIM3	6428821	1.000000	0.71417	0.866000	0.34008	0.978000	0.69477	7.651000	0.83577	1.450000	0.47717	0.563000	0.77884	GTA		0.537	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		5	351	0	0	0	1	0	5	351					T	6472245	C	T	6472245	3	4	17	1	0	0	0	0	1	0	0	0	16557	536	19	1	503	1	TRIM3	11	6472245	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1028451	6472245	128534271	152	2019											
E2F8	79733	broad.mit.edu	37	chr11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-													ctatctgaggcgttgacaccAaaaacagcatcacaaatttc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)ttgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(832-834)tgfs		E2F transcription factor 8							157	156	156					11																	19256002		2199	4293	6492	SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256002delA		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.833delT	11.37:g.19256002delA	ENSP00000434199:p.Leu278fs					E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	p.L278fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			6	1065	-			278					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.833delT	CCDS7849.1																																																																																				0.383	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	996						7	996	---	---	---	---	-	19256002	A	-	19256002	7	5	17	1	0	1	0	1	0	0	0	0	4889	131	5	0	1802	0	E2F8	11	19256002	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	12783757	19256002	115750514	153	2020											
HIPK3	10114	broad.mit.edu	37	chr11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatttctcagaggtattttGgtaaaactaatggaatggga	10	4	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000456517.1_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2314-2316)ttG>ttC		homeodomain interacting protein kinase 3							85	79	81					11																	33369721		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33369721G>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2316G>C	11.37:g.33369721G>C	ENSP00000304226:p.Leu772Phe					HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron	p.L772F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			12	2621	+			772			Interaction with AR (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2316G>C	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517978	0.27211	.	.	ENSG00000110422	ENST00000303296	T	0.23348	1.91	5.74	5.74	0.90152	.	0.162090	0.29314	N	0.012518	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.35908	0.527	B	0.33042	0.157	T	0.12066	-1.0562	10	0.09843	T	0.71	.	13.1561	0.59518	0.0728:0.0:0.9272:0.0	.	772	Q9H422	HIPK3_HUMAN	F	772	ENSP00000304226:L772F	ENSP00000304226:L772F	L	+	3	2	HIPK3	33326297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.785000	0.55424	2.707000	0.92482	0.557000	0.71058	TTG		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		72	135	0	0	0	1	0	72	135					C	33369721	G	C	33369721	3	2	17	1	0	0	0	0	1	0	0	0	7148	1339	47	5	2358	5	HIPK3	11	33369721	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	14113719	33369721	101636795	154	2021											
PAMR1	25891	broad.mit.edu	37	chr11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccccatgagccatttcGgcagctcttgcagttttcaa	7	15	2	1	rs368867348		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(283-285)Cga>Tga		peptidase domain containing associated with muscle regeneration 1		G	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	183	179	181		283,283	3.1	1	11		181	0,8596		0,0,4298	no	stop-gained,stop-gained	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	95/721,95/738	35513689	1,12999	2202	4298	6500	SO:0001587	stop_gained	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513689G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.283C>T	11.37:g.35513689G>A	ENSP00000368158:p.Arg95*					PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	728	-			95					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	c.283C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	41	9.063677	0.99053	2.27E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	.	.	.	5.05	3.08	0.35506	.	0.459441	0.22469	N	0.059650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.5742:0.4258	.	.	.	.	X	95;95;95;55;55;95	.	ENSP00000278360:R95X	R	-	1	2	PAMR1	35470265	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	3.430000	0.52807	0.471000	0.27319	0.491000	0.48974	CGA		0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		299	738	0	0	0	1	0	299	738					A	35513689	G	A	35513689	4	1	17	1	0	0	0	0	0	1	0	0	11455	1124	39	1	1970	1	PAMR1	11	35513689	Nonsense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2143968	35513689	99492827	155	2022											
ACCSL	390110	broad.mit.edu	37	chr11	44074959	44074959	+	Frame_Shift_Del	DEL	A	A	-													atttgggtttttcttaggggAaaaaggtccgaggccttgtg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:44074959delA	ENST00000378832.1	+	8	1008	c.952delA	c.(952-954)aaafs	p.K319fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	319					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCTTAGGGGAAAAAGGTCCG	0.438																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(952-954)aafs		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							102	95	97					11																	44074959		1831	4081	5912	SO:0001589	frameshift_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074959delA		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.952delA	11.37:g.44074959delA	ENSP00000368109:p.Lys319fs						p.K319fs	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			8	1008	+			319						Frame_Shift_Del	DEL	ENST00000378832.1	37	c.952delA	CCDS41636.1																																																																																				0.438	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		7	612						7	612	---	---	---	---	-	44074959	A	-	44074959	7	5	17	1	0	1	0	1	0	0	0	0	134	247	9	0	982	0	ACCSL	11	44074959	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	8561270	44074959	90931557	156	2023											
PEX16	9409	broad.mit.edu	37	chr11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggactgctcatggttgCcagggctgtggtcaccatct	13	11	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000378750.5	-	6	722	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PEX16_ENST00000532681.1_Missense_Mutation_p.G65D|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582																																						ENST00000532681.1																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(193-195)gGc>gAc		peroxisomal biogenesis factor 16							159	132	141					11																	45936217		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45936217C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.479G>A	11.37:g.45936217C>T	ENSP00000368024:p.Gly160Asp					PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR	p.G65D			Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	6	1057	-			160					Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.194G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062097	0.07317	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.85	4.0	0.46444	.	0.670270	0.16493	N	0.212040	T	0.13756	0.0333	L	0.31294	0.92	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.007;0.004	T	0.32161	-0.9917	10	0.15952	T	0.53	-5.9846	8.1875	0.31348	0.0:0.7141:0.139:0.1469	.	160;160	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	D	160;160;65;56;65	ENSP00000241041:G160D;ENSP00000368024:G160D;ENSP00000434654:G65D;ENSP00000433045:G56D;ENSP00000431309:G65D	ENSP00000241041:G160D	G	-	2	0	PEX16	45892793	0.123000	0.22298	0.047000	0.18901	0.134000	0.20937	0.876000	0.28092	0.827000	0.34685	-0.291000	0.09656	GGC		0.582	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		114	316	0	0	0	1	0	114	316					T	45936217	C	T	45936217	3	4	17	1	0	0	0	0	1	0	0	0	11785	739	26	2	648	2	PEX16	11	45936217	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1861258	45936217	89070299	157	2024											
OR4C6	219432	broad.mit.edu	37	chr11	55433052	55433052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcatcatgagtccacGggtgtgctgcctaatggtag	12	10	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55433052G>A	ENST00000314259.3	+	1	439	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGAGTCCACGGGTGTGCTGC	0.512																																						ENST00000314259.3																			1	Substitution - Missense(1)	p.R137L(1)	lung(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(409-411)cGg>cAg		olfactory receptor, family 4, subfamily C, member 6							98	93	95					11																	55433052		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433052G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.410G>A	11.37:g.55433052G>A	ENSP00000324769:p.Arg137Gln						p.R137Q	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	439	+			137					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.410G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	3.613	-0.079149	0.07141	.	.	ENSG00000181903	ENST00000314259	T	0.41758	0.99	3.77	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.721667	0.11263	N	0.582371	T	0.23330	0.0564	N	0.16708	0.43	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24512	-1.0158	10	0.11182	T	0.66	.	8.8573	0.35236	0.1978:0.0:0.8022:0.0	.	137	Q8NH72	OR4C6_HUMAN	Q	137	ENSP00000324769:R137Q	ENSP00000324769:R137Q	R	+	2	0	OR4C6	55189628	0.000000	0.05858	0.014000	0.15608	0.155000	0.21991	-2.867000	0.00722	0.599000	0.29845	0.536000	0.68110	CGG		0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		5	607	0	0	0	1	0	5	607					A	55433052	G	A	55433052	3	1	17	1	0	0	0	0	1	0	0	0	11094	1116	39	1	412	1	OR4C6	11	55433052	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	9496835	55433052	79573464	158	2025											
AHNAK	79026	broad.mit.edu	37	chr11	62297887	62297887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctcccttcaattttggCcccttaagattcaggtccac	5	14	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4000-4002)ggG>ggA		AHNAK nucleoprotein							192	193	192					11																	62297887		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297887C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4002G>A	11.37:g.62297887C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G1334G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4276	-		Melanoma(852;0.155)	1334					A1A586	Silent	SNP	ENST00000378024.4	37	c.4002G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	1296	0	0	0	1	0	8	1296					T	62297887	C	T	62297887	2	4	17	1	0	0	0	0	0	0	0	1	414	726	26	2		2	AHNAK	11	62297887	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	6864835	62297887	72708629	159	2026											
RBM14	10432	broad.mit.edu	37	chr11	66394132	66394132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactctggctaccagcgccGcatgtagggccatcctggga	13	14	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:66394132G>A	ENST00000310137.4	+	3	2142	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	668					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TACCAGCGCCGCATGTAGGGC	0.577																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(2002-2004)cGc>cAc		RNA binding motif protein 14							23	21	22					11																	66394132		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66394132G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.2003G>A	11.37:g.66394132G>A	ENSP00000311747:p.Arg668His					RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron	p.R668H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			3	2142	+			668					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.2003G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734566	0.48939	.	.	ENSG00000239306	ENST00000310137	D	0.89681	-2.55	5.33	4.42	0.53409	.	0.058939	0.64402	D	0.000001	T	0.81908	0.4922	L	0.27053	0.805	0.80722	D	1	B	0.22080	0.064	B	0.12156	0.007	T	0.78730	-0.2090	10	0.87932	D	0	-0.5709	11.85	0.52405	0.0854:0.0:0.9146:0.0	.	668	Q96PK6	RBM14_HUMAN	H	668	ENSP00000311747:R668H	ENSP00000311747:R668H	R	+	2	0	RBM14	66150708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.238000	0.72350	1.267000	0.44247	0.557000	0.71058	CGC		0.577	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		5	124	0	0	0	1	0	5	124					A	66394132	G	A	66394132	3	1	17	1	0	0	0	0	1	0	0	0	13165	1087	38	1	2013	1	RBM14	11	66394132	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	4096245	66394132	68612384	160	2027											
FAM181B	220382	broad.mit.edu	37	chr11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcgcgggtggcctcgcGcacgtcccctccttcggctc	12	17	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(178-180)Cgc>Tgc		family with sequence similarity 181, member B							24	21	22					11																	82444594		2202	4300	6502	SO:0001583	missense	220382							g.chr11:82444594G>A	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.178C>T	11.37:g.82444594G>A	ENSP00000365295:p.Arg60Cys						p.R60C	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	312	-			60					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.178C>T	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025614	0.35701	.	.	ENSG00000182103	ENST00000329203	T	0.34275	1.37	3.79	1.62	0.23740	.	0.378309	0.21245	U	0.077752	T	0.41465	0.1160	L	0.43152	1.355	0.43919	D	0.996568	D	0.76494	0.999	D	0.63113	0.911	T	0.18366	-1.0339	9	.	.	.	.	6.0139	0.19592	0.0:0.1346:0.4145:0.4508	.	60	A6NEQ2	F181B_HUMAN	C	60	ENSP00000365295:R60C	.	R	-	1	0	FAM181B	82122242	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	2.558000	0.45879	0.771000	0.33359	-0.519000	0.04390	CGC		0.662	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		4	100	0	0	0	1	0	4	100					A	82444594	G	A	82444594	3	1	17	1	0	0	0	0	1	0	0	0	5530	1087	38	1	1106	1	FAM181B	11	82444594	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	16050462	82444594	52561922	161	2028											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G													cccccacagggagtggcggtINSggccttggggggtgatggca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs|ROBO3_ENST00000543966.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3. {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)				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)		GGAGTGGCGGTGGCCTTGGGGG	0.604																																						ENST00000397801.1																			0				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						c.(2329-2331)ggcfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745490_124745491insG	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.2332dupG	11.37:g.124745492_124745492dupG	ENSP00000380903:p.Ala778fs					ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	p.G777fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2522_2523	+	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)	777			Fibronectin type-III 3.			Frame_Shift_Ins	INS	ENST00000397801.1	37	c.2330_2331insG	CCDS44755.1																																																																																				0.604	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		7	151						7	151	---	---	---	---	G	124745491	-	G	124745490	7	5	17	1	0	1	1	0	0	0	0	0	13565	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	42300896	124745490	10261026	162	2029											
ZBTB44	29068	broad.mit.edu	37	chr11	130131642	130131642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccaccttatgtgcccGgaagattttgtcctggacac	9	11	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:130131642G>A	ENST00000357899.4	-	2	399	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000525842.1_Missense_Mutation_p.R43W			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTATGTGCCCGGAAGATTTTG	0.453																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(127-129)Cgg>Tgg		zinc finger and BTB domain containing 44							141	137	138					11																	130131642		1922	4129	6051	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131642G>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.127C>T	11.37:g.130131642G>A	ENSP00000350574:p.Arg43Trp					ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000357899.4_Missense_Mutation_p.R43W	p.R43W	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	494	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	43			BTB.		Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.127C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.102184|3.102184	0.56183|0.56183	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.69561	.|-0.41;-0.41;-0.41;-0.41;-0.41	6.07|6.07	4.21|4.21	0.49690|0.49690	.|BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.|0.259539	.|0.40908	.|D	.|0.000991	T|T	0.72835|0.72835	0.3510|0.3510	M|M	0.71581|0.71581	2.175|2.175	0.44711|0.44711	D|D	0.997702|0.997702	.|D;D;B;B	.|0.67145	.|0.996;0.996;0.012;0.01	.|P;P;B;B	.|0.53861	.|0.736;0.736;0.005;0.003	T|T	0.74657|0.74657	-0.3592|-0.3592	5|10	.|0.87932	.|D	.|0	.|.	9.5926|9.5926	0.39554|0.39554	0.0681:0.0:0.6305:0.3014|0.0681:0.0:0.6305:0.3014	.|.	.|43;43;43;43	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	L|W	39|43	.|ENSP00000433457:R43W;ENSP00000380861:R43W;ENSP00000408079:R43W;ENSP00000350574:R43W;ENSP00000434177:R43W	.|ENSP00000350574:R43W	P|R	-|-	2|1	0|2	ZBTB44|ZBTB44	129636852|129636852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.616000|1.616000	0.36933|0.36933	0.897000|0.897000	0.36392|0.36392	-0.169000|-0.169000	0.13324|0.13324	CCG|CGG		0.453	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		6	631	0	0	0	1	0	6	631					A	130131642	G	A	130131642	3	1	17	1	0	0	0	0	1	0	0	0	17598	1115	39	1	1254	1	ZBTB44	11	130131642	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5386152	130131642	4874874	163	2030											
KCNA6	3742	broad.mit.edu	37	chr12	4920011	4920011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctttctggtggagacGctgtgcattgtctggttcac	11	11	4	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000280684.3	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.T268T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(802-804)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 6							89	88	89					12																	4920011		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920011G>A	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.804G>A	12.37:g.4920011G>A		HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Silent_p.T268T	p.T268T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1670	+			268						Silent	SNP	ENST00000280684.3	37	c.804G>A	CCDS8534.1																																																																																				0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		143	322	0	0	0	1	0	143	322					A	4920011	G	A	4920011	2	1	17	1	0	0	0	0	0	0	0	1	8037	1074	38	1		1	KCNA6	12	4920011	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		4920011	128931884	164	2031											
NCAPD2	9918	broad.mit.edu	37	chr12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaaataaacccaatatgtCggatcctgaggaatccaggg	9	8	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1807-1809)tCg>tTg		non-SMC condensin I complex, subunit D2							107	102	104					12																	6631057		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6631057C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1808C>T	12.37:g.6631057C>T	ENSP00000325017:p.Ser603Leu					NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	p.S603L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			15	2607	+			603			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1808C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522777	0.13066	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31769	2.49;1.48;2.22	4.69	0.379	0.16213	Armadillo-type fold (1);	0.958927	0.08648	N	0.914555	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.30179	-0.9987	10	0.29301	T	0.29	0.0031	7.6424	0.28300	0.1363:0.5837:0.0:0.28	.	558;564;603	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	603;475;558;475	ENSP00000325017:S603L;ENSP00000371895:S475L;ENSP00000444417:S558L	ENSP00000325017:S603L	S	+	2	0	NCAPD2	6501318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.050000	0.13356	-1.736000	0.00690	TCG		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		7	395	0	0	0	1	0	7	395					T	6631057	C	T	6631057	3	4	17	1	0	0	0	0	1	0	0	0	10247	893	31	1	1862	1	NCAPD2	12	6631057	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1711046	6631057	127220838	165	2032											
CMAS	55907	broad.mit.edu	37	chr12	22208508	22208508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttctctgttgtgagaCgccatcagtttcgatggagt	11	8	2	1	rs371050975		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:22208508C>T	ENST00000229329.2	+	3	653	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	175					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTTGTGAGACGCCATCAGTT	0.323																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(523-525)Cgc>Tgc		cytidine monophosphate N-acetylneuraminic acid synthetase		C	CYS/ARG	0,4406		0,0,2203	128	119	122		523	4.7	1	12		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMAS	NM_018686.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	175/435	22208508	1,13005	2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208508C>T	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"CMP-Neu5Ac synthetase"	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.523C>T	12.37:g.22208508C>T	ENSP00000229329:p.Arg175Cys						p.R175C	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			3	653	+			175					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.523C>T	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556378	0.65425	0.0	1.16E-4	ENSG00000111726	ENST00000229329;ENST00000538498	.	.	.	5.59	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.83483	2.645	0.53005	D	0.999966	D	0.89917	1.0	D	0.74674	0.984	T	0.78800	-0.2062	9	0.45353	T	0.12	-23.7323	10.7671	0.46299	0.1311:0.7998:0.0:0.0691	.	175	Q8NFW8	NEUA_HUMAN	C	175;16	.	ENSP00000229329:R175C	R	+	1	0	CMAS	22099775	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.119000	0.50422	1.363000	0.46019	0.591000	0.81541	CGC		0.323	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		6	521	0	0	0	1	0	6	521					T	22208508	C	T	22208508	3	4	17	1	0	0	0	0	1	0	0	0	3584	536	19	1	533	1	CMAS	12	22208508	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	15577451	22208508	111643387	166	2033											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		101	238	1	0	1.15629e-50	1	1.3947e-50	101	238					A	25398284	C	A	25398284	3	1	17	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3189776	25398284	108453611	167	2034											
CPNE8	144402	broad.mit.edu	37	chr12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacttctgtttctaccaAgaaagagagtaaagttacct	7	7	2	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M|CPNE8_ENST00000538596.2_5'Flank	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(871-873)Ttg>Atg		copine VIII							92	91	91					12																	39117617		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39117617A>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.871T>A	12.37:g.39117617A>T	ENSP00000329748:p.Leu291Met					CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	p.L291M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			13	967	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	291					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.871T>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781337	0.49891	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.25085	1.82;1.82	4.51	0.923	0.19413	.	0.174644	0.38720	N	0.001594	T	0.20047	0.0482	L	0.35854	1.095	0.48762	D	0.999705	P	0.37207	0.587	B	0.42882	0.401	T	0.03534	-1.1027	10	0.59425	D	0.04	-5.3906	4.2841	0.10846	0.582:0.1718:0.2463:0.0	.	291	Q86YQ8	CPNE8_HUMAN	M	291;279	ENSP00000329748:L291M;ENSP00000353633:L279M	ENSP00000329748:L291M	L	-	1	2	CPNE8	37403884	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.619000	0.24388	0.317000	0.23160	0.460000	0.39030	TTG		0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		130	386	0	0	0	1	0	130	386					T	39117617	A	T	39117617	3	4	17	1	0	0	0	0	1	0	0	0	3827	69	3	5	855	5	CPNE8	12	39117617	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	13719333	39117617	94734278	168	2035											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	295	0	0	0	1	0	5	295					T	39735383	C	T	39735383	2	4	17	1	0	0	0	0	0	0	0	1	8318	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	617766	39735383	94116512	169	2036											
NCKAP5L	57701	broad.mit.edu	37	chr12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcagcacctccagaaTctgggccttcttccgaagga	10	14	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(568-570)Att>Ttt		NCK-associated protein 5-like							24	28	27					12																	50191075		1906	4117	6023	SO:0001583	missense	57701							g.chr12:50191075T>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.568A>T	12.37:g.50191075T>A	ENSP00000337998:p.Ile190Phe						p.I190F	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	769	-			186			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.568A>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465970	0.84425	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.63913	-0.07	4.3	4.3	0.51218	.	.	.	.	.	T	0.71204	0.3312	L	0.42245	1.32	0.47153	D	0.999339	D	0.76494	0.999	D	0.87578	0.998	T	0.73372	-0.4003	9	0.59425	D	0.04	-4.9163	12.7587	0.57350	0.0:0.0:0.0:1.0	.	186	E2QRB5	.	F	190;186	ENSP00000337998:I190F	ENSP00000337998:I190F	I	-	1	0	NCKAP5L	48477342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.480000	0.53172	1.717000	0.51406	0.379000	0.24179	ATT		0.682	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		56	121	0	0	0	1	0	56	121					A	50191075	T	A	50191075	3	1	17	1	0	0	0	0	1	0	0	0	10266	1435	50	5	3460	5	NCKAP5L	12	50191075	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	10455692	50191075	83660820	170	2037											
ACCN2	41	broad.mit.edu	37	chr12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-													caaggatggaactgaaggccGaggaggaggaggtgggtggc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	498						7	498	---	---	---	---	-	50452567	GAG	-	50452565	7	5	17	1	0	1	0	1	0	0	0	0	129	1059	37	0	18	0	ACCN2	12	50452565	In_Frame_Del	DEL	GAG	TCGA-2L-AAQA-01A-21D-A38G-08	261490	50452565	83399330	171	2038											
KRT76	51350	broad.mit.edu	37	chr12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtagaggctgCgactgccaaagctgcctgct	13	12	0	1	rs575967584		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79	101	94					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		5	565	0	0	0	1	0	5	565					T	53170909	C	T	53170909	3	4	17	1	0	0	0	0	1	0	0	0	8519	768	27	1	1785	1	KRT76	12	53170909	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2718344	53170909	80680986	172	2039											
HOXC10	3226	broad.mit.edu	37	chr12	54383224	54383224	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgacctccaattttaatttCacctgagagcgcggcctctc	7	14	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:54383224C>A	ENST00000303460.4	+	2	1097	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	341					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATTTTAATTTCACCTGAGAGC	0.488											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(1021-1023)ttC>ttA		homeobox C10							37	32	34					12																	54383224		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54383224C>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.1023C>A	12.37:g.54383224C>A	ENSP00000307321:p.Phe341Leu		OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	999	HOXC10_ENST00000511575.1_3'UTR	p.F341L	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			2	1097	+			341					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.1023C>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918709	0.52546	.	.	ENSG00000180818	ENST00000303460	D	0.95724	-3.79	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.56769	1.78	0.80722	D	1	P	0.49559	0.925	P	0.45639	0.488	D	0.93007	0.6428	10	0.72032	D	0.01	.	8.6487	0.34022	0.0:0.8851:0.0:0.1149	.	341	Q9NYD6	HXC10_HUMAN	L	341	ENSP00000307321:F341L	ENSP00000307321:F341L	F	+	3	2	HOXC10	52669491	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.527000	0.35975	1.864000	0.54056	0.462000	0.41574	TTC		0.488	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			4	153	1	0	3.59834e-05	1	4.25258e-05	4	153					A	54383224	C	A	54383224	3	1	17	1	0	0	0	0	1	0	0	0	7339	825	29	3	1029	3	HOXC10	12	54383224	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1212315	54383224	79468671	173	2040											
GNS	2799	broad.mit.edu	37	chr12	65113810	65113810	+	Frame_Shift_Del	DEL	A	A	-													aaggaaacttacccggggtcAaaaacccctggagtgcgaca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:65113810delA	ENST00000258145.3	-	13	1742	c.1572delT	c.(1570-1572)tttfs	p.F524fs	GNS_ENST00000542058.1_Frame_Shift_Del_p.F504fs|GNS_ENST00000418919.2_Frame_Shift_Del_p.F468fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.F556fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	524					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCCGGGGTCAAAAACCCCTG	0.443																																						ENST00000258145.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(1570-1572)ttfs		glucosamine (N-acetyl)-6-sulfatase							114	119	117					12																	65113810		2203	4300	6503	SO:0001589	frameshift_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113810delA		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1572delT	12.37:g.65113810delA	ENSP00000258145:p.Phe524fs					GNS_ENST00000418919.2_Frame_Shift_Del_p.F468fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.F556fs|GNS_ENST00000542058.1_Frame_Shift_Del_p.F504fs	p.F524fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1742	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		524					B4DYH8|Q53F05	Frame_Shift_Del	DEL	ENST00000258145.3	37	c.1572delT	CCDS8970.1																																																																																				0.443	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			7	584						7	584	---	---	---	---	-	65113810	A	-	65113810	7	5	17	1	0	1	0	1	0	0	0	0	6579	127	5	0	94	0	GNS	12	65113810	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	10730586	65113810	68738085	174	2041											
NR2C1	7181	broad.mit.edu	37	chr12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttttctgttgaagcgGcacagttggaagatttttct	10	5	2	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(601-603)gCc>gTc		nuclear receptor subfamily 2, group C, member 1							121	119	120					12																	95451597		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451597G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.602C>T	12.37:g.95451597G>A	ENSP00000333275:p.Ala201Val					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V	p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			6	932	-			201					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.602C>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934588	0.92458	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92149	-2.98;-2.7;-2.7	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.997	D;D;D;D	0.80764	0.989;0.994;0.989;0.985	D	0.95074	0.8207	10	0.44086	T	0.13	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	201;201;201;201	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	201	ENSP00000333275:A201V;ENSP00000376813:A201V;ENSP00000328843:A201V	ENSP00000328843:A201V	A	-	2	0	NR2C1	93975728	1.000000	0.71417	0.966000	0.40874	0.889000	0.51656	9.385000	0.97223	2.646000	0.89796	0.655000	0.94253	GCC		0.343	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		6	749	0	0	0	1	0	6	749					A	95451597	G	A	95451597	3	1	17	1	0	0	0	0	1	0	0	0	10664	1203	42	2	1323	2	NR2C1	12	95451597	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	30337787	95451597	38400298	175	2042											
ALDH1L2	160428	broad.mit.edu	37	chr12	105433542	105433542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgaaaccaagtttgCggatgtcaggatgttcagac	11	8	2	2	rs143830632		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:105433542C>T	ENST00000258494.9	-	17	2134	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAAGTTTGCGGATGTCAGG	0.443																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(1993-1995)cGc>cAc		aldehyde dehydrogenase 1 family, member L2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	183	166	172		1994	5.7	1	12	dbSNP_134	172	0,8600		0,0,4300	yes	missense	ALDH1L2	NM_001034173.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	665/924	105433542	1,13005	2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105433542C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1994G>A	12.37:g.105433542C>T	ENSP00000258494:p.Arg665His					C12orf45_ENST00000548583.1_Intron	p.R665H	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			17	2134	-			665			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1994G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420098	0.96111	2.27E-4	0.0	ENSG00000136010	ENST00000258494	T	0.17054	2.3	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.02942	-1.1091	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	665	Q3SY69	AL1L2_HUMAN	H	665	ENSP00000258494:R665H	ENSP00000258494:R665H	R	-	2	0	ALDH1L2	103957672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.683000	0.91414	0.650000	0.86243	CGC		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		5	441	0	0	0	1	0	5	441					T	105433542	C	T	105433542	3	4	17	1	0	0	0	0	1	0	0	0	495	768	27	1	805	1	ALDH1L2	12	105433542	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	9981945	105433542	28418353	176	2043											
BTBD11	121551	broad.mit.edu	37	chr12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctccccgctccaggcGtcccgtggactctgcacacg	9	20	2	0	rs201620480		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2455-2457)Gtc>Atc		BTB (POZ) domain containing 11		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25	24	24		1066,2455	5.2	1	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108013765G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile					BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I	p.V819I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			11	2983	+			819					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2455G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		30	101	0	0	0	1	0	30	101					A	108013765	G	A	108013765	3	1	17	1	0	0	0	0	1	0	0	0	1543	1145	40	1	2602	1	BTBD11	12	108013765	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2580223	108013765	25838130	177	2044											
C12orf51	283450	broad.mit.edu	37	chr12	112667558	112667558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaagtgcacacagtgCggcaacggcctggcgtgcaa	13	14	0	0	rs200222003		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:112667558C>A	ENST00000430131.2	-	40	6342	c.5197G>T	c.(5197-5199)Gca>Tca	p.A1733S	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2009S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1983S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1733					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCACACAGTGCGGCAACGGCC	0.493																																						ENST00000550722.1																			0											c.(6025-6027)Gca>Tca		HECT domain containing E3 ubiquitin protein ligase 4							162	164	164					12																	112667558		1967	4131	6098	SO:0001583	missense	283450							g.chr12:112667558C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5197G>T	12.37:g.112667558C>A	ENSP00000404379:p.Ala1733Ser					HECTD4_ENST00000430131.2_Missense_Mutation_p.A1733S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1983S	p.A2009S	NM_001109662.3	NP_001103132.3					41	6420	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6025G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.733030	0.96856	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59638	0.25;0.27;0.25	5.96	5.96	0.96718	.	.	.	.	.	T	0.66247	0.2770	N	0.19112	0.55	0.58432	D	0.999999	D	0.63880	0.993	D	0.72075	0.976	T	0.69555	-0.5114	9	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1733	Q9Y4D8	K0614_HUMAN	S	1983;1733;2009	ENSP00000366783:A1983S;ENSP00000404379:A1733S;ENSP00000449784:A2009S	ENSP00000366783:A1983S	A	-	1	0	C12orf51	111151941	1.000000	0.71417	0.314000	0.25224	0.842000	0.47809	7.251000	0.78297	2.831000	0.97527	0.650000	0.86243	GCA		0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	657	1	0	0.184627	1	0.200013	5	657					A	112667558	C	A	112667558	3	1	17	1	0	0	0	0	1	0	0	0	1701	768	27	3	6937	3	C12orf51	12	112667558	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4653793	112667558	21184337	178	2045											
FBXW8	26259	broad.mit.edu	37	chr12	117465243	117465243	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccacagcctcatcaCggccaacgtgccttaccaga	8	17	2	1	rs80100705		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:117465243C>A	ENST00000309909.5	+	10	1668	c.1586C>A	c.(1585-1587)aCg>aAg	p.T529K	FBXW8_ENST00000455858.2_Missense_Mutation_p.T463K			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	529					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGCCTCATCACGGCCAACGTG	0.607																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1387-1389)aCg>aAg		F-box and WD repeat domain containing 8							99	80	87					12																	117465243		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465243C>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1586C>A	12.37:g.117465243C>A	ENSP00000310686:p.Thr529Lys					FBXW8_ENST00000309909.5_Missense_Mutation_p.T529K	p.T463K	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	10	1461	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		529					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1388C>A	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976191	0.74360	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.11063	2.81;2.83	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.03139	-1.1068	10	0.54805	T	0.06	-15.1406	18.4705	0.90773	0.0:1.0:0.0:0.0	.	529;463	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	K	529;463;463	ENSP00000310686:T529K;ENSP00000389144:T463K	ENSP00000310686:T529K	T	+	2	0	FBXW8	115949626	1.000000	0.71417	0.993000	0.49108	0.290000	0.27261	5.728000	0.68531	2.452000	0.82932	0.462000	0.41574	ACG		0.607	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		4	209	1	0	1	1	1	4	209					A	117465243	C	A	117465243	3	1	17	1	0	0	0	0	1	0	0	0	5795	536	19	3	1624	3	FBXW8	12	117465243	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4797685	117465243	16386652	179	2046											
OASL	8638	broad.mit.edu	37	chr12	121469326	121469326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaatttctctgcagctcGctgaaggatgggcagaaatt	11	8	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:121469326G>A	ENST00000257570.5	-	3	846	c.576C>T	c.(574-576)agC>agT	p.S192S	OASL_ENST00000339275.5_Silent_p.S192S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	192					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCAGCTCGCTGAAGGATG	0.577																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(574-576)agC>agT		2'-5'-oligoadenylate synthetase-like							98	91	93					12																	121469326		2203	4300	6503	SO:0001819	synonymous_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121469326G>A	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.576C>T	12.37:g.121469326G>A						OASL_ENST00000339275.5_Silent_p.S192S	p.S192S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			3	846	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		192					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	ENST00000257570.5	37	c.576C>T	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049713	0.19827	.	.	ENSG00000135114	ENST00000543677	.	.	.	5.65	-5.04	0.02964	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.37314	D	0.909245	.	.	.	.	.	.	T	0.42616	-0.9441	4	.	.	.	-11.2817	4.4545	0.11637	0.4092:0.0:0.261:0.3298	.	.	.	.	V	90	.	.	A	-	2	0	OASL	119953709	0.241000	0.23857	0.777000	0.31699	0.888000	0.51559	-0.946000	0.03905	-0.841000	0.04200	-0.150000	0.13652	GCG		0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		6	459	0	0	0	1	0	6	459					A	121469326	G	A	121469326	2	1	17	1	0	0	0	0	0	0	0	1	10844	1078	38	1		1	OASL	12	121469326	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	4004083	121469326	12382569	180	2047											
PITPNM2	57605	broad.mit.edu	37	chr12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaggggtggtggggcTgggggcgggcagggcgagca	27	7	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:123474427T>G	ENST00000542749.1	-	16	2701	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S880R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2638-2640)Agc>Cgc		phosphatidylinositol transfer protein, membrane-associated 2							2	3	2					12																	123474427		1321	2883	4204	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474427T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2638A>C	12.37:g.123474427T>G	ENSP00000437611:p.Ser880Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron	p.S880R	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		880			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2638A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	8.105	0.777545	0.16120	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44083	1.25;0.93;1.25	5.25	-10.5	0.00291	DDHD (2);	1.325000	0.05462	U	0.551478	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.28991	0.097	T	0.32903	-0.9889	10	0.44086	T	0.13	-0.586	3.5902	0.07986	0.4413:0.3133:0.0929:0.1526	.	880	Q9BZ72	PITM2_HUMAN	R	880;601;880	ENSP00000322218:S880R;ENSP00000376223:S601R;ENSP00000437611:S880R	ENSP00000322218:S880R	S	-	1	0	PITPNM2	122040380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.610000	0.00209	-4.103000	0.00073	-2.971000	0.00081	AGC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	25	0	0	0	1	0	4	25					G	123474427	T	G	123474427	3	3	17	1	0	0	0	0	1	0	0	0	11993	1580	55	4	1447	4	PITPNM2	12	123474427	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	2005101	123474427	10377468	181	2048											
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	13	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		ubiquitin C							191	172	179					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron	p.A350V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	1166	0	0	0	1	0	8	1166					A	125397269	G	A	125397269	3	1	17	1	0	0	0	0	1	0	0	0	16896	1203	42	2	1012	2	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1922842	125397269	8454626	182	2049											
RIMBP2	23504	broad.mit.edu	37	chr12	130927081	130927081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctccaggccgatgccGgaatggttgatgaagttctg	12	11	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		GGCCGATGCCGGAATGGTTGA	0.597																																						ENST00000261655.4																			0				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						c.(763-765)tcC>tcT		RIMS binding protein 2							193	179	184					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927081G>A	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.765C>T	12.37:g.130927081G>A						RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	p.S255S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	928	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	255					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.765C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	477	0	0	0	1	0	5	477					A	130927081	G	A	130927081	2	1	17	1	0	0	0	0	0	0	0	1	13413	1103	39	1		1	RIMBP2	12	130927081	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5529812	130927081	2924814	183	2050											
TPTE2	93492	broad.mit.edu	37	chr13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catccatgagaaaaaataagCcaatagctagagaaatagaa	7	6	0	3	rs201242841		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					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.G116A(1)|p.G79A(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)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	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						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50	56	54					13																	20048099		2201	4296	6497	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.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A	p.G116A			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)	6	391	-		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)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		5	605	0	0	0	1	0	5	605					G	20048099	C	G	20048099	3	3	17	1	0	0	0	0	1	0	0	0	16484	739	26	5	1281	5	TPTE2	13	20048099	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		20048099	95121779	184	2051											
FLT3	2322	broad.mit.edu	37	chr13	28608126	28608126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgatcctagtacctTccctgcaaagacaaatggtg	8	12	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:28608126T>C	ENST00000241453.7	-	15	1921	c.1840A>G	c.(1840-1842)Aag>Gag	p.K614E	FLT3_ENST00000380982.4_Missense_Mutation_p.K614E|FLT3_ENST00000537084.1_Missense_Mutation_p.K614E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G613_K614ins33(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTAGTACCTTCCCTGCAAAG	0.403			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		1	Insertion - In frame(1)	p.G613_K614ins33(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1840-1842)Aag>Gag		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						232	213	220					13																	28608126		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608126T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1840A>G	13.37:g.28608126T>C	ENSP00000241453:p.Lys614Glu					FLT3_ENST00000241453.7_Missense_Mutation_p.K614E|FLT3_ENST00000537084.1_Missense_Mutation_p.K614E	p.K614E			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1921	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	614			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1840A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322140	0.41096	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.88975	-2.45;-2.45;-2.45	5.93	3.62	0.41486	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.170289	0.42053	D	0.000764	T	0.81833	0.4906	N	0.21448	0.665	0.33657	D	0.609189	B;B	0.20261	0.043;0.0	B;B	0.20384	0.029;0.001	T	0.82849	-0.0254	10	0.72032	D	0.01	.	12.8764	0.57991	0.0:0.0:0.3859:0.6141	.	614;614	P36888-2;P36888	.;FLT3_HUMAN	E	614	ENSP00000241453:K614E;ENSP00000370369:K614E;ENSP00000438139:K614E	ENSP00000241453:K614E	K	-	1	0	FLT3	27506126	0.935000	0.31712	0.999000	0.59377	0.861000	0.49209	1.401000	0.34589	1.059000	0.40554	-0.291000	0.09656	AAG		0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	908	0	0	0	1	0	8	908					C	28608126	T	C	28608126	3	2	17	1	0	0	0	0	1	0	0	0	5967	1792	62	4	1181	4	FLT3	13	28608126	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	8560027	28608126	86561752	185	2052											
HSPH1	10808	broad.mit.edu	37	chr13	31712945	31712946	+	Frame_Shift_Del	DEL	GG	GG	-													ctgaagtcagctgctatcttGgcataatgctgcagcctctg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:31712945_31712946delGG	ENST00000320027.5	-	16	2524_2525	c.2180_2181delCC	c.(2179-2181)gccfs	p.A727fs	HSPH1_ENST00000380405.4_Frame_Shift_Del_p.A683fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.A686fs|HSPH1_ENST00000429785.2_Frame_Shift_Del_p.A546fs|HSPH1_ENST00000445273.2_Frame_Shift_Del_p.A729fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	727					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTGCTATCTTGGCATAATGCTG	0.391																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2179-2181)gfs		heat shock 105kDa/110kDa protein 1																																				SO:0001589	frameshift_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31712945_31712946delGG	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2180_2181delCC	13.37:g.31712945_31712946delGG	ENSP00000318687:p.Ala727fs					HSPH1_ENST00000445273.2_Frame_Shift_Del_p.A729fs|HSPH1_ENST00000380405.4_Frame_Shift_Del_p.A683fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.A686fs|HSPH1_ENST00000429785.2_Frame_Shift_Del_p.A546fs	p.A727fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2524_2525	-		Lung SC(185;0.0257)	727					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Del	DEL	ENST00000320027.5	37	c.2180_2181delCC	CCDS9340.1																																																																																				0.391	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			7	1032						7	1032	---	---	---	---	-	31712946	GG	-	31712945	7	5	17	1	0	1	0	1	0	0	0	0	7461	1335	47	0	407	0	HSPH1	13	31712945	Frame_Shift_Del	DEL	GG	TCGA-2L-AAQA-01A-21D-A38G-08	3104819	31712945	83456933	186	2053											
TMCO3	55002	broad.mit.edu	37	chr13	114188422	114188423	+	Frame_Shift_Ins	INS	-	-	G													attcttttttcactagcggcINSggtttttcttttatgtcttg					rs201723650		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:114188422_114188423insG	ENST00000434316.2	+	9	1765_1766	c.1406_1407insG	c.(1405-1410)gcggttfs	p.V470fs	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	470						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCACTAGCGGCGGTTTTTCTTT	0.401																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1405-1407)ggtfs		transmembrane and coiled-coil domains 3																																				SO:0001589	frameshift_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114188422_114188423insG	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1408dupG	13.37:g.114188424_114188424dupG	ENSP00000389399:p.Val470fs					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	p.G469fs	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		9	1765_1766	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	469					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Frame_Shift_Ins	INS	ENST00000434316.2	37	c.1406_1407insG	CCDS9537.1																																																																																				0.401	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		9	1161						9	1161	---	---	---	---	G	114188423	-	G	114188422	7	5	17	1	0	1	1	0	0	0	0	0	16049	768	27	0	1436	0	TMCO3	13	114188422	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	82475477	114188422	981456	187	2054											
ACIN1	22985	broad.mit.edu	37	chr14	23530745	23530745	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaccgggggtgggggTggggggtgcaggggccgtgg	28	6	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000397341.3_Silent_p.P362P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3358-3360)ccA>ccC		apoptotic chromatin condensation inducer 1							7	10	9					14																	23530745		2074	3973	6047	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530745T>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3360A>C	14.37:g.23530745T>G						ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000338631.6_Silent_p.P393P	p.P1120P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3687	-	all_cancers(95;1.36e-05)		1120			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3360A>C	CCDS9587.1																																																																																				0.657	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		9	75	0	0	0	1	0	9	75					G	23530745	T	G	23530745	2	3	17	1	0	0	0	0	0	0	0	1	142	1683	59	4		4	ACIN1	14	23530745	Silent	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08		23530745	83818795	188	2055											
C14orf21	161424	broad.mit.edu	37	chr14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttacaggttttacaccGcaaacttccccagttttgcg	8	12	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153	156	155					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			8	997	0	0	0	1	0	8	997					A	24771231	G	A	24771231	3	1	17	1	0	0	0	0	1	0	0	0	1774	1087	38	1	883	1	C14orf21	14	24771231	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1240486	24771231	82578309	189	2056											
HECTD1	25831	broad.mit.edu	37	chr14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctatcacctcgtgactcaTaaatcagtttactcatattg	4	11	5	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6862-6864)tAt>tTt		HECT domain containing E3 ubiquitin protein ligase 1							82	77	79					14																	31576215		1851	4100	5951	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576215T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6863A>T	14.37:g.31576215T>A	ENSP00000382269:p.Tyr2288Phe					HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7351	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2288			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6863A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.677590|1.677590	0.29783|0.29783	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.39406	.|1.08;1.08	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.085238	.|0.49305	.|U	.|0.000145	T|T	0.38161|0.38161	0.1030|0.1030	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.57257	.|0.979	.|D	.|0.71414	.|0.973	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.11794	.|T	.|0.64	-10.4726|-10.4726	15.0049|15.0049	0.71504|0.71504	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2288	.|Q9ULT8	.|HECD1_HUMAN	L|F	654|2288;2290;2288	.|ENSP00000450697:Y2288F;ENSP00000382269:Y2288F	.|ENSP00000261312:Y2290F	M|Y	-|-	1|2	0|0	HECTD1|HECTD1	30645966|30645966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.694000|7.694000	0.84235|0.84235	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.368	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			12	537	0	0	0	1	0	12	537					A	31576215	T	A	31576215	3	1	17	1	0	0	0	0	1	0	0	0	7069	1406	49	5	993	5	HECTD1	14	31576215	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	6804984	31576215	75773325	190	2057											
SYNE2	23224	broad.mit.edu	37	chr14	64518983	64518983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcagtctgtggaatcGttggctgaagaggtcaaaga	15	6	2	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:64518983G>A	ENST00000344113.4	+	48	8564	c.8352G>A	c.(8350-8352)tcG>tcA	p.S2784S	SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000554584.1_Silent_p.S2817S|SYNE2_ENST00000358025.3_Silent_p.S2784S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2784					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGGAATCGTTGGCTGAAG	0.443																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224								spectrin repeat containing, nuclear envelope 2							137	129	131					14																	64518983		1958	4147	6105	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518983G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8352G>A	14.37:g.64518983G>A						SYNE2_ENST00000554584.1_Silent_p.S2817S|SYNE2_ENST00000344113.4_Silent_p.S2784S|SYNE2_ENST00000358025.3_Silent_p.S2784S				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	0	8582	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Translation_Start_Site	SNP	ENST00000344113.4	37		CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	629	0	0	0	1	0	6	629					A	64518983	G	A	64518983	2	1	17	1	0	0	0	0	0	0	0	1	15498	1132	40	1		1	SYNE2	14	64518983	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	32942768	64518983	42830557	191	2058											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	132						7	132	---	---	---	---	-	74205928	CTG	-	74205926	7	5	17	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-2L-AAQA-01A-21D-A38G-08	9686943	74205926	33143614	192	2059											
VSX2	338917	broad.mit.edu	37	chr14	74711870	74711870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtcttgctcccctcaggaCaatctttacctcctaccagc	6	17	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74711870C>A	ENST00000261980.2	+	3	548	c.458C>A	c.(457-459)aCa>aAa	p.T153K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	153					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CCCCTCAGGACAATCTTTACC	0.557																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(457-459)aCa>aAa		visual system homeobox 2							51	45	47					14																	74711870		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74711870C>A	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.458C>A	14.37:g.74711870C>A	ENSP00000261980:p.Thr153Lys						p.T153K	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	3	548	+			153					A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.458C>A	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147188	0.94603	.	.	ENSG00000119614	ENST00000261980	D	0.97232	-4.3	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.0779	0.89433	0.0:1.0:0.0:0.0	.	153	P58304	VSX2_HUMAN	K	153	ENSP00000261980:T153K	ENSP00000261980:T153K	T	+	2	0	VSX2	73781623	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.414000	0.80117	2.502000	0.84385	0.655000	0.94253	ACA		0.557	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		4	156	1	0	8.12818e-05	1	9.447e-05	4	156					A	74711870	C	A	74711870	3	1	17	1	0	0	0	0	1	0	0	0	17286	478	17	3	468	3	VSX2	14	74711870	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	505944	74711870	32637670	193	2060											
AHNAK2	113146	broad.mit.edu	37	chr14	105413154	105413154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctctgggagtttcacGtccacctggccagcctggac	12	15	2	0	rs533202251	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:105413154G>A	ENST00000333244.5	-	7	8753	c.8634C>T	c.(8632-8634)gaC>gaT	p.D2878D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2878						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACCTGGC	0.617													.|||	8	0.00159744	0.0008	0.0	5008	,	,		17980	0.0069		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8632-8634)gaC>gaT		AHNAK nucleoprotein 2							120	131	127					14																	105413154		1923	4125	6048	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413154G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8634C>T	14.37:g.105413154G>A						AHNAK2_ENST00000557457.1_Intron	p.D2878D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8753	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2878					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8634C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1305	0	0	0	1	0	9	1305					A	105413154	G	A	105413154	2	1	17	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105413154	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	30701284	105413154	1936386	194	2061											
MAGEL2	54551	broad.mit.edu	37	chr15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacggctgtcctcttggGcttccagatgcttcttcttc	10	14	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	174					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(871-873)gCc>gTc		MAGE-like 2							46	53	51					15																	23890209		2177	4288	6465	SO:0001583	missense	54551							g.chr15:23890209G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.872C>T	15.37:g.23890209G>A	ENSP00000433433:p.Ala291Val						p.A291V	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	966	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.872C>T		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588375	0.13812	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	3.3	0.37823	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19877	-1.0292	5	.	.	.	.	7.8726	0.29576	0.1098:0.0:0.8901:0.0	.	.	.	.	S	323	.	.	P	-	1	0	MAGEL2	21441302	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.810000	0.27183	1.364000	0.46038	0.655000	0.94253	CCC		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		16	225	0	0	0	1	0	16	225					A	23890209	G	A	23890209	3	1	17	1	0	0	0	0	1	0	0	0	9230	1203	42	2	1072	2	MAGEL2	15	23890209	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		23890209	78641183	195	2062											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	1000						12	1000	---	---	---	---	-	31196894	A	-	31196894	7	5	17	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	7306685	31196894	71334498	196	2063											
MYO5A	4644	broad.mit.edu	37	chr15	52664502	52664502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctcttgtagtgtgtgCgggccagccagccccggact	13	14	1	0	rs569010771		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:52664502C>T	ENST00000399231.3	-	21	2879	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R879H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R879H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R879H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R879H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	879	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGTGTGTGCGGGCCAGCCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.001					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2635-2637)cGc>cAc		myosin VA (heavy chain 12, myoxin)							47	46	46					15																	52664502		2038	4184	6222	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664502C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2636G>A	15.37:g.52664502C>T	ENSP00000382177:p.Arg879His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R879H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R879H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R879H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R879H	p.R879H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2879	-			879			IQ 5.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2636G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718673	0.89205	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.77	3.9	0.45041	.	0.115727	0.64402	D	0.000012	T	0.79587	0.4471	M	0.83953	2.67	0.80722	D	1	P;D	0.89917	0.458;1.0	B;D	0.87578	0.422;0.998	T	0.82139	-0.0605	10	0.72032	D	0.01	.	13.4716	0.61285	0.0:0.8865:0.0:0.1135	.	879;879	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	879;413;879;879;879;509;879	ENSP00000382177:R879H;ENSP00000382179:R879H;ENSP00000348693:R879H;ENSP00000350945:R879H;ENSP00000451109:R879H	ENSP00000348693:R879H	R	-	2	0	MYO5A	50451794	0.993000	0.37304	0.163000	0.22734	0.996000	0.88848	3.079000	0.50104	0.903000	0.36546	0.650000	0.86243	CGC		0.532	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		5	317	0	0	0	1	0	5	317					T	52664502	C	T	52664502	3	4	17	1	0	0	0	0	1	0	0	0	10119	768	27	1	3015	1	MYO5A	15	52664502	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	21467608	52664502	49866890	197	2064											
CCPG1	9236	broad.mit.edu	37	chr15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	TA	-													agtgtgaccaaagaagtgtcTatatatatattcatccaact							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:55651780_55651781delTA	ENST00000310958.6	-	8	2488_2489	c.2190_2191delTA	c.(2188-2193)tatagafs	p.YR730fs	CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	730					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2188-2193)tagafs		cell cycle progression 1																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55651780_55651781delTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2190_2191delTA	15.37:g.55651788_55651789delTA	ENSP00000311656:p.Tyr730fs					CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs	p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2488_2489	-			730					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	ENST00000310958.6	37	c.2190_2191delTA	CCDS42039.1																																																																																				0.332	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		7	442						7	442	---	---	---	---	-	55651781	TA	-	55651780	7	5	17	1	0	1	0	1	0	0	0	0	2947	1530	53	0	86	0	CCPG1	15	55651780	Frame_Shift_Del	DEL	TA	TCGA-2L-AAQA-01A-21D-A38G-08	2987278	55651780	46879612	198	2065											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	497						7	497	---	---	---	---	-	59144134	GCT	-	59144132	7	5	17	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-2L-AAQA-01A-21D-A38G-08	3492352	59144132	43387260	199	2066											
PIF1	80119	broad.mit.edu	37	chr15	65113473	65113473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcttgttctgctgccGgacagctctggagaggagcg	16	9	2	1	rs200881596		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:65113473G>A	ENST00000268043.4	-	6	1073	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	PIF1_ENST00000333425.6_Missense_Mutation_p.R327W|PIF1_ENST00000559239.1_Missense_Mutation_p.R327W					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TTCTGCTGCCGGACAGCTCTG	0.607																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(979-981)Cgg>Tgg		PIF1 5'-to-3' DNA helicase		G	TRP/ARG	0,4404		0,0,2202	78	69	72		979	4.8	1	15		72	2,8596	2.2+/-6.3	0,2,4297	yes	missense	PIF1	NM_025049.2	101	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	327/642	65113473	2,13000	2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65113473G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.979C>T	15.37:g.65113473G>A	ENSP00000268043:p.Arg327Trp					PIF1_ENST00000559239.1_Missense_Mutation_p.R327W|PIF1_ENST00000333425.6_Missense_Mutation_p.R327W	p.R327W			Q9H611	PIF1_HUMAN			6	1073	-			327			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.979C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369151	0.61624	0.0	2.33E-4	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77750	-1.12;-1.12	5.79	4.8	0.61643	.	0.047541	0.85682	D	0.000000	D	0.92509	0.7621	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94808	0.7976	10	0.87932	D	0	-37.8558	15.1667	0.72833	0.0:0.0:0.8494:0.1506	.	327	Q9H611	PIF1_HUMAN	W	327	ENSP00000268043:R327W;ENSP00000328174:R327W	ENSP00000268043:R327W	R	-	1	2	PIF1	62900526	1.000000	0.71417	0.994000	0.49952	0.625000	0.37756	2.924000	0.48876	2.735000	0.93741	0.655000	0.94253	CGG		0.607	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		5	410	0	0	0	1	0	5	410					A	65113473	G	A	65113473	3	1	17	1	0	0	0	0	1	0	0	0	11925	1115	39	1	978	1	PIF1	15	65113473	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5969341	65113473	37417919	200	2067											
LBXCOR1	390598	broad.mit.edu	37	chr15	68119756	68119756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggcagctgctggcagCggtgccccagagcccctgga	16	15	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:68119756C>T	ENST00000380035.2	+	2	1648	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	SKOR1_ENST00000389002.1_Silent_p.S486S|SKOR1_ENST00000554054.1_Silent_p.S502S|SKOR1_ENST00000554240.1_Silent_p.S491S|SKOR1_ENST00000341418.5_Intron			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	530					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ctgctggcagcggTGCCCCAG	0.766																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(1588-1590)agC>agT		SKI family transcriptional corepressor 1							2	2	2					15																	68119756		851	1916	2767	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68119756C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1590C>T	15.37:g.68119756C>T						SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Silent_p.S486S|SKOR1_ENST00000554054.1_Silent_p.S502S|SKOR1_ENST00000554240.1_Silent_p.S491S	p.S530S			P84550	SKOR1_HUMAN			2	1648	+			530					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.1590C>T																																																																																					0.766	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		3	36	0	0	0	1	0	3	36					T	68119756	C	T	68119756	2	4	17	1	0	0	0	0	0	0	0	1	8686	767	27	1		1	LBXCOR1	15	68119756	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3006283	68119756	34411636	201	2068											
NR2E3	10002	broad.mit.edu	37	chr15	72103116	72103116	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacagctctgatgagctcCacagtggctgcagctgcgcc	11	15	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:72103116C>A	ENST00000398840.2	+	0	223							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						TGATGAGCTCCACAGTGGCTG	0.652																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							12	16	15					15																	72103116		1961	4142	6103			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72103116C>A		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103116C>A										Q9Y5X4	NR2E3_HUMAN			0	223	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37																																																																																						0.652	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		3	28	1	0	6.4e-05	1	7.488e-05	3	28					A	72103116	C	A	72103116	1	1	17	0	1	0	0	0	0	0	0	0	10668	581	21	3		3	NR2E3	15	72103116	RNA	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3983360	72103116	30428276	202	2069											
ISLR2	57611	broad.mit.edu	37	chr15	74425848	74425848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccggcaccccactgcgCgcaggactggcgttcgtgtt	13	16	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(751-753)cgC>cgT		immunoglobulin superfamily containing leucine-rich repeat 2							35	34	34					15																	74425848		2196	4296	6492	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425848C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.753C>T	15.37:g.74425848C>T						ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R	p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1522	+			251			Ig-like.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.753C>T	CCDS10259.1																																																																																				0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		88	188	0	0	0	1	0	88	188					T	74425848	C	T	74425848	2	4	17	1	0	0	0	0	0	0	0	1	7889	755	27	1		1	ISLR2	15	74425848	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2322732	74425848	28105544	203	2070											
LINGO1	84894	broad.mit.edu	37	chr15	77907604	77907604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaggacgatgaggccGtgcaggtgggacagcgcctc	16	12	1	1	rs373064406		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(643-645)caC>caT		leucine rich repeat and Ig domain containing 1		G		0,4354		0,0,2177	108	117	114		645	3.6	1	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG		0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907604G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.645C>T	15.37:g.77907604G>A						LINGO1_ENST00000561030.1_Silent_p.H209H	p.H215H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	819	-			215					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.645C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	506	0	0	0	1	0	6	506					A	77907604	G	A	77907604	2	1	17	1	0	0	0	0	0	0	0	1	8847	1136	40	1		1	LINGO1	15	77907604	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3481756	77907604	24623788	204	2071											
TMC3	342125	broad.mit.edu	37	chr15	81627309	81627309	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgctttcttcctgggtctgGattcgggctgcagggagagg	17	8	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:81627309G>T	ENST00000359440.5	-	21	2346	c.2211C>A	c.(2209-2211)atC>atA	p.I737I	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.I738I|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCTGGGTCTGGATTCGGGCTG	0.532																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2212-2214)atC>atA		transmembrane channel-like 3							113	110	111					15																	81627309		2049	4203	6252	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627309G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2211C>A	15.37:g.81627309G>T						RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I737I|RP11-761I4.3_ENST00000560973.1_RNA	p.I738I			Q7Z5M5	TMC3_HUMAN			21	2349	-			737						Silent	SNP	ENST00000359440.5	37	c.2214C>A	CCDS45324.1																																																																																				0.532	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		5	199	1	0	1	1	1	5	199					T	81627309	G	T	81627309	2	4	17	1	0	0	0	0	0	0	0	1	16038	1164	41	3		3	TMC3	15	81627309	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3719705	81627309	20904083	205	2072											
RHBDF1	64285	broad.mit.edu	37	chr16	110482	110482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactgtctcttgtggcccGcaagctctggggcgctggga	14	12	2	0	rs201706583		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:110482G>A	ENST00000262316.6	-	12	1755	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	538					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTTGTGGCCCGCAAGCTCTGG	0.642													G|||	0	0.0	0.0	0.0	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0					ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1612-1614)gCg>gTg		rhomboid 5 homolog 1 (Drosophila)		G	VAL/ALA	0,4406		0,0,2203	73	71	71		1613	5.4	1	16		71	1,8599		0,1,4299	yes	missense	RHBDF1	NM_022450.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	538/856	110482	1,13005	2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:110482G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1613C>T	16.37:g.110482G>A	ENSP00000262316:p.Ala538Val						p.A538V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			12	1755	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	538					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1613C>T	CCDS32344.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	10.62	1.400754	0.25291	0.0	1.16E-4	ENSG00000007384	ENST00000262316	T	0.44482	0.92	5.38	5.38	0.77491	.	0.275564	0.36002	N	0.002854	T	0.23492	0.0568	N	0.08118	0	0.80722	D	1	P	0.35628	0.513	B	0.28385	0.089	T	0.08269	-1.0730	10	0.23302	T	0.38	-11.1593	18.1216	0.89573	0.0:0.0:1.0:0.0	.	538	Q96CC6	RHDF1_HUMAN	V	538	ENSP00000262316:A538V	ENSP00000262316:A538V	A	-	2	0	RHBDF1	50482	0.781000	0.28676	0.997000	0.53966	0.794000	0.44872	2.635000	0.46537	2.537000	0.85549	0.655000	0.94253	GCG		0.642	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		6	418	0	0	0	1	0	6	418					A	110482	G	A	110482	3	1	17	1	0	0	0	0	1	0	0	0	13369	1087	38	1	982	1	RHBDF1	16	110482	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		110482	90244271	206	2073											
PKD1	5310	broad.mit.edu	37	chr16	2156013	2156013	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgttgggctctgggagggtGatggccaaagacctacgagc	16	10	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:2156013G>A	ENST00000262304.4	-	20	7924	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	PKD1_ENST00000423118.1_Silent_p.I2572I|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2572	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGAGGGTGATGGCCAAAG	0.701																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7714-7716)atC>atT		polycystic kidney disease 1 (autosomal dominant)							24	37	32					16																	2156013		1419	2602	4021	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156013G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7716C>T	16.37:g.2156013G>A						PKD1_ENST00000423118.1_Silent_p.I2572I|PKD1_ENST00000561991.1_5'UTR	p.I2572I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			20	7924	-			2572			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7716C>T	CCDS32369.1																																																																																				0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	268	0	0	0	1	0	5	268					A	2156013	G	A	2156013	2	1	17	1	0	0	0	0	0	0	0	1	12005	1280	45	2		2	PKD1	16	2156013	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2045531	2156013	88198740	207	2074											
ZNF434	54925	broad.mit.edu	37	chr16	3434792	3434792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacactgttctggggtccGcagaaaaccctgctcccaga	11	14	1	2	rs566315752		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:3434792G>A	ENST00000396852.4	-	6	1208	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	301					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)										TCTGGGGTCCGCAGAAAACCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.001		0.0	False		,,,				2504	0.0					ENST00000396852.4																			0											c.(901-903)Cgg>Tgg		zinc finger and SCAN domain containing 32							149	156	154					16																	3434792		2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434792G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.901C>T	16.37:g.3434792G>A	ENSP00000380061:p.Arg301Trp					ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W	p.R301W							6	1208	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	14.15	2.450425	0.43531	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	3.38	-6.77	0.01727	.	1.517890	0.05004	N	0.469693	T	0.76040	0.3932	H	0.95712	3.71	0.09310	N	1	D;B;B	0.89917	1.0;0.005;0.005	D;B;B	0.97110	1.0;0.002;0.002	T	0.74512	-0.3641	10	0.87932	D	0	.	6.7168	0.23308	0.5388:0.2234:0.2378:0.0	.	89;89;301	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	W	89;301;301;12;89	ENSP00000302502:R89W;ENSP00000380061:R301W;ENSP00000380057:R301W;ENSP00000391787:R12W;ENSP00000407312:R89W	ENSP00000302502:R89W	R	-	1	2	ZNF434	3374793	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.830000	0.00355	-2.262000	0.00690	-0.345000	0.07892	CGG		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		7	960	0	0	0	1	0	7	960					A	3434792	G	A	3434792	3	1	17	1	0	0	0	0	1	0	0	0	17961	1086	38	1	1200	1	ZNF434	16	3434792	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1278779	3434792	86919961	208	2075											
PPL	5493	broad.mit.edu	37	chr16	4940233	4940233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaggctgtctgtctcCtggggctcgtaactggggat	16	9	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:4940233C>A	ENST00000345988.2	-	18	2354	c.2265G>T	c.(2263-2265)caG>caT	p.Q755H	PPL_ENST00000590782.2_Missense_Mutation_p.Q753H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	755					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTGTCTCCTGGGGCTCGT	0.617																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2263-2265)caG>caT		periplakin							138	108	118					16																	4940233		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4940233C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2265G>T	16.37:g.4940233C>A	ENSP00000340510:p.Gln755His					PPL_ENST00000590782.2_Missense_Mutation_p.Q753H	p.Q755H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			18	2354	-			755					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2265G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138740	0.56936	.	.	ENSG00000118898	ENST00000345988	T	0.52526	0.66	5.19	2.13	0.27403	.	0.148194	0.45606	D	0.000360	T	0.57621	0.2066	M	0.64997	1.995	0.33090	D	0.537801	D	0.67145	0.996	P	0.61328	0.887	T	0.67511	-0.5652	10	0.66056	D	0.02	.	8.97	0.35901	0.0:0.6519:0.0:0.3481	.	755	O60437	PEPL_HUMAN	H	755	ENSP00000340510:Q755H	ENSP00000340510:Q755H	Q	-	3	2	PPL	4880234	0.681000	0.27614	1.000000	0.80357	0.872000	0.50106	-0.127000	0.10547	0.580000	0.29522	0.591000	0.81541	CAG		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	377	1	0	0.0215528	1	0.0236407	5	377					A	4940233	C	A	4940233	3	1	17	1	0	0	0	0	1	0	0	0	12381	680	24	3	3025	3	PPL	16	4940233	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1505441	4940233	85414520	209	2076											
MYH11	4629	broad.mit.edu	37	chr16	15844126	15844126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcccttcttggtcttggAggcgctgggcagcgagctct	14	12	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:15844126A>G	ENST00000300036.5	-	16	2036	c.1927T>C	c.(1927-1929)Tcc>Ccc	p.S643P	MYH11_ENST00000396324.3_Missense_Mutation_p.S650P|MYH11_ENST00000576790.2_Missense_Mutation_p.S643P|MYH11_ENST00000452625.2_Missense_Mutation_p.S650P	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	643	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)			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						TTGGTCTTGGAGGCGCTGGGC	0.632			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(1927-1929)Tcc>Ccc		myosin, heavy chain 11, smooth muscle							124	91	102					16																	15844126		2197	4300	6497	SO:0001583	missense	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.chr16:15844126A>G	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.1927T>C	16.37:g.15844126A>G	ENSP00000300036:p.Ser643Pro					MYH11_ENST00000300036.5_Missense_Mutation_p.S643P|MYH11_ENST00000576790.1_Missense_Mutation_p.S643P|MYH11_ENST00000396324.3_Missense_Mutation_p.S650P|MYH11_ENST00000452625.2_Missense_Mutation_p.S650P	p.S643P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			16	2033	-			643			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1927T>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709102	0.68615	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	4.33	0.51752	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.52364	1.645	0.80722	D	1	P;P;P;B;P;B	0.39216	0.664;0.492;0.492;0.143;0.492;0.143	B;B;B;B;B;B	0.38985	0.287;0.287;0.287;0.287;0.287;0.287	T	0.78314	-0.2252	10	0.30078	T	0.28	.	11.0495	0.47878	0.8516:0.0:0.0:0.1483	.	650;643;643;650;643;650	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	P	643;643;650;650;650	ENSP00000300036:S643P;ENSP00000345136:S643P;ENSP00000379616:S650P;ENSP00000407821:S650P	ENSP00000300036:S643P	S	-	1	0	MYH11	15751627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.162000	0.64942	0.837000	0.34925	0.459000	0.35465	TCC		0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	144	0	0	0	1	0	4	144					G	15844126	A	G	15844126	3	3	17	1	0	0	0	0	1	0	0	0	10072	304	11	4	4130	4	MYH11	16	15844126	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	10903893	15844126	74510627	210	2077											
POLR3E	55718	broad.mit.edu	37	chr16	22339834	22339834	+	Frame_Shift_Del	DEL	C	C	-													ccctgggccttggtcagtttCccccccagactgctgcttcc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:22339834delC	ENST00000299853.5	+	19	2037	c.1870delC	c.(1870-1872)cccfs	p.P625fs	POLR3E_ENST00000418581.2_Frame_Shift_Del_p.P589fs|POLR3E_ENST00000564209.1_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.P625fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	625					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGGTCAGTTTCCCCCCCAGAC	0.577																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1870-1872)ccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							123	102	109					16																	22339834		2197	4300	6497	SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339834delC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1870delC	16.37:g.22339834delC	ENSP00000299853:p.Pro625fs					POLR3E_ENST00000564209.1_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000418581.2_Frame_Shift_Del_p.P589fs	p.P625fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2037	+			625					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Del	DEL	ENST00000299853.5	37	c.1870delC	CCDS10605.1																																																																																				0.577	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	512						7	512	---	---	---	---	-	22339834	C	-	22339834	7	5	17	1	0	1	0	1	0	0	0	0	12274	855	30	0	1940	0	POLR3E	16	22339834	Frame_Shift_Del	DEL	C	TCGA-2L-AAQA-01A-21D-A38G-08	6495708	22339834	68014919	211	2078											
ITGAD	3681	broad.mit.edu	37	chr16	31424527	31424527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagctggggacgccacCgtctgtctcaccatccagaa	11	14	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:31424527C>T	ENST00000389202.2	+	16	2005	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	652					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)			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						GGGACGCCACCGTCTGTCTCA	0.607																																						ENST00000389202.2																			0				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						c.(1954-1956)acC>acT		integrin, alpha D							109	98	101					16																	31424527		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31424527C>T	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.1956C>T	16.37:g.31424527C>T							p.T652T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			16	2005	+			652					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1956C>T	CCDS32438.1																																																																																				0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		8	444	0	0	0	1	0	8	444					T	31424527	C	T	31424527	2	4	17	1	0	0	0	0	0	0	0	1	7914	639	23	1		1	ITGAD	16	31424527	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	9084693	31424527	58930226	212	2079											
PHKB	5257	broad.mit.edu	37	chr16	47533708	47533708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcaaagtccaactaccggtCtctttcccactaaaacatgc	4	14	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:47533708C>A	ENST00000323584.5	+	3	232	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	PHKB_ENST00000455779.1_Missense_Mutation_p.L63I|PHKB_ENST00000299167.8_Missense_Mutation_p.L70I|PHKB_ENST00000566044.1_Missense_Mutation_p.L63I|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	70					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACTACCGGTCTCTTTCCCAC	0.502																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(187-189)Ctc>Atc		phosphorylase kinase, beta							165	157	159					16																	47533708		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47533708C>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.208C>A	16.37:g.47533708C>A	ENSP00000313504:p.Leu70Ile					PHKB_ENST00000323584.5_Missense_Mutation_p.L70I|PHKB_ENST00000299167.8_Missense_Mutation_p.L70I|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.L63I	p.L63I			Q93100	KPBB_HUMAN			4	372	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	70					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.187C>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954603	0.92726	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90504	-2.68;-2.68	5.81	5.81	0.92471	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.060624	0.64402	N	0.000003	D	0.96331	0.8803	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.91635	0.934;0.999;0.981	D	0.96784	0.9577	10	0.87932	D	0	-15.4103	13.2989	0.60313	0.0:0.9278:0.0:0.0722	.	63;70;63	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	I	63;63;70	ENSP00000414345:L63I;ENSP00000313504:L70I	ENSP00000299167:L63I	L	+	1	0	PHKB	46091209	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.909000	0.63314	2.737000	0.93849	0.655000	0.94253	CTC		0.502	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			6	592	1	0	0.0215528	1	0.0236407	6	592					A	47533708	C	A	47533708	3	1	17	1	0	0	0	0	1	0	0	0	11887	913	32	3	277	3	PHKB	16	47533708	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	16109181	47533708	42821045	213	2080											
CDH16	1014	broad.mit.edu	37	chr16	66948290	66948290	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagctggtaggtcctctcCagggcgtggtcaaggctggt	15	10	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:66948290C>A	ENST00000299752.4	-	7	802	c.609G>T	c.(607-609)ctG>ctT	p.L203L	CDH16_ENST00000394055.3_Silent_p.L203L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000565796.1_Silent_p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTCCTCTCCAGGGCGTGGT	0.607																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(607-609)ctG>ctT		cadherin 16, KSP-cadherin							77	63	68					16																	66948290		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66948290C>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.609G>T	16.37:g.66948290C>A						CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000565796.1_Silent_p.L203L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Silent_p.L203L	p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	7	802	-		Ovarian(137;0.0563)	203			Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.609G>T	CCDS10823.1																																																																																				0.607	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	207	1	0	0.000602214	1	0.000690775	5	207					A	66948290	C	A	66948290	2	1	17	1	0	0	0	0	0	0	0	1	3110	581	21	3		3	CDH16	16	66948290	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	19414582	66948290	23406463	214	2081											
LRRC36	55282	broad.mit.edu	37	chr16	67410658	67410658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagatttgcttctgtctttGgtagtcccggctccttctca	9	12	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67410658G>T	ENST00000329956.6	+	11	1708	c.1689G>T	c.(1687-1689)ttG>ttT	p.L563F	LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.L442F|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	563										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCTGTCTTTGGTAGTCCCGG	0.517																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1687-1689)ttG>ttT		leucine rich repeat containing 36							204	185	191					16																	67410658		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67410658G>T	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1689G>T	16.37:g.67410658G>T	ENSP00000329943:p.Leu563Phe					LRRC36_ENST00000563189.1_Missense_Mutation_p.L442F|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000541146.1_Intron	p.L563F	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	11	1708	+		Ovarian(137;0.192)	563					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1689G>T	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209239	0.79240	.	.	ENSG00000159708	ENST00000329956	T	0.09817	2.94	5.76	5.76	0.90799	.	0.058214	0.64402	D	0.000002	T	0.27419	0.0673	L	0.45581	1.43	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.87578	0.947;0.998	T	0.00118	-1.2034	10	0.59425	D	0.04	-4.4355	15.4671	0.75409	0.0:0.0:1.0:0.0	.	442;563	Q1X8D7-2;Q1X8D7	.;LRC36_HUMAN	F	563	ENSP00000329943:L563F	ENSP00000329943:L563F	L	+	3	2	LRRC36	65968159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.220000	0.42908	2.714000	0.92807	0.655000	0.94253	TTG		0.517	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		5	639	1	0	0.0215528	1	0.0236407	5	639					T	67410658	G	T	67410658	3	4	17	1	0	0	0	0	1	0	0	0	9028	1339	47	3	1759	3	LRRC36	16	67410658	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	462368	67410658	22944095	215	2082											
RLTPR	146206	broad.mit.edu	37	chr16	67685831	67685831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcccttagggacatgCggctatcaatcacggggacc	11	14	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67685831C>T	ENST00000334583.6	+	26	2924	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R830W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	866					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TAGGGACATGCGGCTATCAAT	0.612																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2596-2598)Cgg>Tgg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							118	123	121					16																	67685831		2096	4213	6309	SO:0001583	missense	146206							g.chr16:67685831C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2596C>T	16.37:g.67685831C>T	ENSP00000334958:p.Arg866Trp					RLTPR_ENST00000545661.1_Missense_Mutation_p.R830W	p.R866W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	26	2924	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	866					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2596C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011854	0.35511	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.14893	2.47;2.47	4.85	1.66	0.24008	.	0.149642	0.31542	N	0.007470	T	0.32376	0.0827	L	0.60455	1.87	0.32363	N	0.556953	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.95	T	0.40327	-0.9569	10	0.87932	D	0	-20.6548	10.4365	0.44439	0.5177:0.4823:0.0:0.0	.	830;866	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	W	866;830	ENSP00000334958:R866W;ENSP00000441481:R830W	ENSP00000334958:R866W	R	+	1	2	RLTPR	66243332	0.918000	0.31147	0.990000	0.47175	0.017000	0.09413	1.288000	0.33296	0.198000	0.20407	0.655000	0.94253	CGG		0.612	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		7	620	0	0	0	1	0	7	620					T	67685831	C	T	67685831	3	4	17	1	0	0	0	0	1	0	0	0	13444	759	27	1	2698	1	RLTPR	16	67685831	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	275173	67685831	22668922	216	2083											
SF3B3	23450	broad.mit.edu	37	chr16	70595636	70595636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttgcatcgggttttgCctcggaacagtgtcccgagg	14	9	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70595636C>T	ENST00000302516.5	+	17	2448	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	746					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCGGGTTTTGCCTCGGAACAG	0.527																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2236-2238)gCc>gTc		splicing factor 3b, subunit 3, 130kDa							152	125	134					16																	70595636		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70595636C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2237C>T	16.37:g.70595636C>T	ENSP00000305790:p.Ala746Val						p.A746V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			17	2448	+		Ovarian(137;0.0694)	746					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2237C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883026	0.91740	.	.	ENSG00000189091	ENST00000302516	T	0.30182	1.54	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.49350	1.555	0.80722	D	1	B	0.18741	0.03	B	0.19946	0.027	T	0.03651	-1.1016	10	0.34782	T	0.22	-16.5403	20.5948	0.99439	0.0:1.0:0.0:0.0	.	746	Q15393	SF3B3_HUMAN	V	746	ENSP00000305790:A746V	ENSP00000305790:A746V	A	+	2	0	SF3B3	69153137	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.770000	0.85390	2.873000	0.98535	0.563000	0.77884	GCC		0.527	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	718	0	0	0	1	0	6	718					T	70595636	C	T	70595636	3	4	17	1	0	0	0	0	1	0	0	0	14202	739	26	2	2299	2	SF3B3	16	70595636	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2909805	70595636	19759117	217	2084											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	11	12	3	2	rs577654275	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				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						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159	164	162					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>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.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	526	0	0	0	1	0	6	526					A	70841641	G	A	70841641	3	1	17	1	0	0	0	0	1	0	0	0	7497	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	246005	70841641	19513112	218	2085											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451113	87451113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtaatacttgtgcaaacGcagtttcctaagccagtcta	10	9	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:87451113G>A	ENST00000268616.4	-	8	1142	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	309							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTGTGCAAACGCAGTTTCCTA	0.502											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(925-927)Cgt>Tgt		zinc finger, CCHC domain containing 14							178	188	185					16																	87451113		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451113G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.925C>T	16.37:g.87451113G>A	ENSP00000268616:p.Arg309Cys		OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.R309C	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1142	-			309					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.925C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388488	0.82902	.	.	ENSG00000140948	ENST00000268616	T	0.51325	0.71	6.07	6.07	0.98685	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.67007	-0.5779	10	0.20046	T	0.44	-17.4937	20.6439	0.99570	0.0:0.0:1.0:0.0	.	309;309	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	309	ENSP00000268616:R309C	ENSP00000268616:R309C	R	-	1	0	ZCCHC14	86008614	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.972000	0.93424	2.884000	0.98904	0.655000	0.94253	CGT		0.502	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		6	939	0	0	0	1	0	6	939					A	87451113	G	A	87451113	3	1	17	1	0	0	0	0	1	0	0	0	17636	1087	38	1	1948	1	ZCCHC14	16	87451113	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	16609472	87451113	2903640	219	2086											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2583589	2583589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgaagaccctcaatgcGcatgaacactttgttacctc	7	12	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:2583589G>A	ENST00000397195.5	+	10	1585	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Silent_p.A173A	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CCCTCAATGCGCATGAACACT	0.453																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1132-1134)gcG>gcA		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							251	236	241					17																	2583589		2203	4300	6503	SO:0001819	synonymous_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583589G>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1134G>A	17.37:g.2583589G>A						PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.A173A	p.A378A	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1585	+			378			Interaction with DCX.|Interaction with dynein and dynactin.			Silent	SNP	ENST00000397195.5	37	c.1134G>A	CCDS32528.1																																																																																				0.453	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		6	597	0	0	0	1	0	6	597					A	2583589	G	A	2583589	2	1	17	1	0	0	0	0	0	0	0	1	11426	1074	38	1		1	PAFAH1B1	17	2583589	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		2583589	78611621	220	2087											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		134	158	0	0	0	1	0	134	158					T	7578406	C	T	7578406	3	4	17	1	0	0	0	0	1	0	0	0	16434	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4994817	7578406	73616804	221	2088											
TRIM16L	147166	broad.mit.edu	37	chr17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataaactctcgggcatccGcaaagttatcacggaatcca	9	11	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm (GO:0005737)		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443																																						ENST00000449552.2																			1	Substitution - Missense(1)	p.R95H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(283-285)cGc>cAc		tripartite motif containing 16-like							82	75	77					17																	18634465		2202	4300	6502	SO:0001583	missense	147166					cytoplasm		g.chr17:18634465G>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.284G>A	17.37:g.18634465G>A	ENSP00000461386:p.Arg95His					TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H	p.R95H			Q309B1	TR16L_HUMAN			5	1768	+			95					A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.284G>A	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	g	6.943	0.543701	0.13250	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.69306	-0.39;-0.35;-0.35	3.34	1.08	0.20341	.	0.505333	0.19169	U	0.120992	T	0.46464	0.1394	L	0.27053	0.805	0.27535	N	0.950972	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.10450	0.005;0.004;0.005	T	0.34279	-0.9835	10	0.48119	T	0.1	-15.3991	4.4089	0.11423	0.4614:0.0:0.5386:0.0	.	149;311;95	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	H	149;95;95	ENSP00000379239:R149H;ENSP00000379031:R95H;ENSP00000379030:R95H	ENSP00000379030:R95H	R	+	2	0	TRIM16L	18575190	0.986000	0.35501	1.000000	0.80357	0.454000	0.32378	1.469000	0.35343	0.609000	0.30018	0.405000	0.27470	CGC		0.443	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		5	365	0	0	0	1	0	5	365					A	18634465	G	A	18634465	3	1	17	1	0	0	0	0	1	0	0	0	16545	1087	38	1	290	1	TRIM16L	17	18634465	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	11056059	18634465	62560745	222	2089											
FBXW10	10517	broad.mit.edu	37	chr17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taggctgttttctggaaaagGagacataaccaagccagggt	12	7	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																						ENST00000308799.4																			6	Substitution - Missense(6)	p.G245A(6)	endometrium(6)	NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(733-735)gGa>gCa		F-box and WD repeat domain containing 10							231	173	193					17																	18653098		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18653098G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala					FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A	p.G245A			Q5XX13	FBW10_HUMAN			3	953	+			245					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.734G>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	680	0	0	0	1	0	5	680					C	18653098	G	C	18653098	3	2	17	1	0	0	0	0	1	0	0	0	5788	1174	41	5	744	5	FBXW10	17	18653098	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	18633	18653098	62542112	223	2090											
CCL8	6355	broad.mit.edu	37	chr17	32647821	32647821	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctctctcccccacagCttcaagaccaaacggggcaa	8	17	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.e3-1		chemokine (C-C motif) ligand 8							70	59	63					17																	32647821		2203	4300	6503	SO:0001630	splice_region_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647821C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"Chemokine ligands", "Endogenous ligands"	10635	protein-coding gene	gene with protein product		602283	"small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.195-1C>T	17.37:g.32647821C>T							p.I65_splice	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			3	661	+		Ovarian(249;0.0443)|Breast(31;0.151)	65					A0AV77|P78388	Splice_Site	SNP	ENST00000394620.1	37	c.194_splice	CCDS11280.1																																																																																				0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623	Silent	40	76	0	0	0	1	0	40	76					T	32647821	C	T	32647821	5	4	17	1	0	0	0	0	0	0	1	0	2916	811	28	2	205	2	CCL8	17	32647821	Splice_Site	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	13994723	32647821	48547389	224	2091											
KRT14	3861	broad.mit.edu	37	chr17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcatctcgttcagaatgCggctcaggtccacgccaggt	11	14	3	1	rs375620492		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(844-846)cGc>cAc		keratin 14		C	HIS/ARG	0,4406		0,0,2203	183	153	163		845	3	1	17		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT14	NM_000526.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	282/473	39740094	1,13005	2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740094C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.845G>A	17.37:g.39740094C>T	ENSP00000167586:p.Arg282His						p.R282H	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	931	-		Breast(137;0.000307)	282			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.845G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195700	0.58126	0.0	1.16E-4	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.04	3.04	0.35103	Prefoldin (1);Filament (1);	0.000000	0.49916	D	0.000135	D	0.83649	0.5300	M	0.74546	2.27	0.29322	N	0.867318	D	0.76494	0.999	D	0.73708	0.981	T	0.76589	-0.2904	10	0.62326	D	0.03	.	4.864	0.13598	0.156:0.612:0.0:0.2321	.	282	P02533	K1C14_HUMAN	H	282	ENSP00000167586:R282H	ENSP00000167586:R282H	R	-	2	0	KRT14	36993620	0.000000	0.05858	0.997000	0.53966	0.504000	0.33889	0.450000	0.21762	1.258000	0.44101	-0.119000	0.15052	CGC		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	1119	0	0	0	1	0	6	1119					T	39740094	C	T	39740094	3	4	17	1	0	0	0	0	1	0	0	0	8481	768	27	1	593	1	KRT14	17	39740094	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	7092273	39740094	41455116	225	2092											
KAT2A	2648	broad.mit.edu	37	chr17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctccgtgtaggggatgCggggattcagctcacactcc	13	12	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1972-1974)cGc>cAc		K(lysine) acetyltransferase 2A							309	269	282					17																	40266956		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266956C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1973G>A	17.37:g.40266956C>T	ENSP00000225916:p.Arg658His						p.R658H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			13	2026	-			658					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1973G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183065	0.78677	.	.	ENSG00000108773	ENST00000225916	T	0.05513	3.43	5.09	5.09	0.68999	Acyl-CoA N-acyltransferase (2);	0.142348	0.52532	D	0.000063	T	0.15652	0.0377	M	0.87097	2.86	0.80722	D	1	B	0.18013	0.025	B	0.08055	0.003	T	0.03268	-1.1054	10	0.62326	D	0.03	-19.725	18.4939	0.90856	0.0:1.0:0.0:0.0	.	658	Q92830	KAT2A_HUMAN	H	658	ENSP00000225916:R658H	ENSP00000225916:R658H	R	-	2	0	KAT2A	37520482	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.797000	0.85911	2.366000	0.80165	0.561000	0.74099	CGC		0.552	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		8	1549	0	0	0	1	0	8	1549					T	40266956	C	T	40266956	3	4	17	1	0	0	0	0	1	0	0	0	8011	768	27	1	564	1	KAT2A	17	40266956	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	526862	40266956	40928254	226	2093											
KCNH4	23415	broad.mit.edu	37	chr17	40323892	40323892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagtgggcaaggagcGcaaagaccgacatgagcagc	13	12	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40323892G>A	ENST00000264661.3	-	7	1441	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A370V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	370					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCAAGGAGCGCAAAGACCGA	0.627																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1108-1110)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 4							94	78	84					17																	40323892		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323892G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1109C>T	17.37:g.40323892G>A	ENSP00000264661:p.Ala370Val					KCNH4_ENST00000607371.1_Missense_Mutation_p.A370V	p.A370V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1441	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	370						Missense_Mutation	SNP	ENST00000264661.3	37	c.1109C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879224	0.91740	.	.	ENSG00000089558	ENST00000264661	D	0.97016	-4.21	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.40554	N	0.001070	D	0.94918	0.8357	L	0.45051	1.395	0.58432	D	0.999995	P	0.46706	0.883	P	0.44772	0.46	D	0.94689	0.7872	10	0.45353	T	0.12	.	18.6574	0.91459	0.0:0.0:1.0:0.0	.	370	Q9UQ05	KCNH4_HUMAN	V	370	ENSP00000264661:A370V	ENSP00000264661:A370V	A	-	2	0	KCNH4	37577418	1.000000	0.71417	0.927000	0.36925	0.978000	0.69477	6.398000	0.73244	2.720000	0.93068	0.561000	0.74099	GCG		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	508	0	0	0	1	0	8	508					A	40323892	G	A	40323892	3	1	17	1	0	0	0	0	1	0	0	0	8064	1087	38	1	1984	1	KCNH4	17	40323892	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	56936	40323892	40871318	227	2094											
BECN1	8678	broad.mit.edu	37	chr17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttatccagctgcgtctggGcataacgcatctggttttca	10	11	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000590099.1_Missense_Mutation_p.A257V|BECN1_ENST00000438274.3_Missense_Mutation_p.A181V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(769-771)gCc>gTc		beclin 1, autophagy related							241	204	216					17																	40967986		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967986G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.770C>T	17.37:g.40967986G>A	ENSP00000355231:p.Ala257Val					BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	902	-		Breast(137;0.00104)	257					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.770C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830695	0.50845	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.55	5.95	5.95	0.96441	.	0.171847	0.52532	D	0.000064	T	0.34978	0.0916	L	0.33339	1.005	0.58432	D	0.999994	B;B	0.32188	0.359;0.024	B;B	0.29663	0.105;0.094	T	0.07083	-1.0791	10	0.18710	T	0.47	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	181;257	E7EV84;Q14457	.;BECN1_HUMAN	V	257;181;170	ENSP00000355231:A257V;ENSP00000416173:A181V	ENSP00000355231:A257V	A	-	2	0	BECN1	38221512	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.847000	0.75404	2.824000	0.97209	0.655000	0.94253	GCC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		7	1067	0	0	0	1	0	7	1067					A	40967986	G	A	40967986	3	1	17	1	0	0	0	0	1	0	0	0	1397	1203	42	2	602	2	BECN1	17	40967986	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	644094	40967986	40227224	228	2095											
IFI35	3430	broad.mit.edu	37	chr17	41165154	41165154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctttagtttccaatttgCggatccactgccctctgctt	7	12	2	0	rs139469566	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:41165154C>T	ENST00000415816.2	+	3	434	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	IFI35_ENST00000438323.2_Missense_Mutation_p.R71W	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	71					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TTCCAATTTGCGGATCCACTG	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		19825	0.001		0.001	False		,,,				2504	0.001					ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(211-213)Cgg>Tgg		interferon-induced protein 35		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	131	131	131		211	1.6	0	17	dbSNP_134	131	8,8592	6.4+/-24.3	0,8,4292	yes	missense	IFI35	NM_005533.4	101	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	probably-damaging	71/289	41165154	10,12996	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41165154C>T	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.211C>T	17.37:g.41165154C>T	ENSP00000394579:p.Arg71Trp					IFI35_ENST00000438323.2_Missense_Mutation_p.R71W	p.R71W	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	3	434	+		Breast(137;0.00499)	71					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.211C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.87	2.068639	0.36470	4.54E-4	9.3E-4	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.52983	0.64;0.65	5.03	1.64	0.23874	Interferon induced 35kDa, N-terminal (1);	0.281959	0.34025	N	0.004331	T	0.58807	0.2148	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.54370	-0.8304	10	0.72032	D	0.01	.	11.8129	0.52194	0.5556:0.4444:0.0:0.0	.	71	P80217	IN35_HUMAN	W	71	ENSP00000394579:R71W;ENSP00000395590:R71W	ENSP00000394579:R71W	R	+	1	2	IFI35	38418680	0.000000	0.05858	0.010000	0.14722	0.147000	0.21601	0.061000	0.14366	0.160000	0.19432	-0.268000	0.10319	CGG		0.567	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		8	1085	0	0	0	1	0	8	1085					T	41165154	C	T	41165154	3	4	17	1	0	0	0	0	1	0	0	0	7546	759	27	1	221	1	IFI35	17	41165154	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	197168	41165154	40030056	229	2096											
C17orf53	78995	broad.mit.edu	37	chr17	42225981	42225981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactgggaagtctgtccGcaacgctcccctgttcaagc	9	16	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:42225981G>A	ENST00000319977.4	+	3	1047	c.810G>A	c.(808-810)ccG>ccA	p.P270P	C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	270								p.P270P(2)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGTCTGTCCGCAACGCTCCC	0.562																																						ENST00000319977.4																			2	Substitution - coding silent(2)	p.P270P(2)	large_intestine(1)|lung(1)	NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(808-810)ccG>ccA		chromosome 17 open reading frame 53							114	102	106					17																	42225981		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42225981G>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.810G>A	17.37:g.42225981G>A						C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1047	+		Breast(137;0.0364)|Prostate(33;0.0376)	270					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.810G>A	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	A	3.696	-0.062627	0.07273	.	.	ENSG00000125319	ENST00000253405	.	.	.	3.9	-2.33	0.06724	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.29301	T	0.29	-3.2336	1.0994	0.01680	0.1794:0.2246:0.1418:0.4542	.	.	.	.	T	124	.	ENSP00000253405:A124T	A	+	1	0	C17orf53	39581507	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.524000	0.02233	-0.601000	0.05783	-0.381000	0.06696	GCA		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		5	769	0	0	0	1	0	5	769					A	42225981	G	A	42225981	2	1	17	1	0	0	0	0	0	0	0	1	1868	1074	38	1		1	C17orf53	17	42225981	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1060827	42225981	38969229	230	2097											
RNF43	54894	broad.mit.edu	37	chr17	56492904	56492908	+	Frame_Shift_Del	DEL	AGGGC	AGGGC	-													ccatcagcagccagggccagAgggcagccagctgcagctgg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492904_56492908delAGGGC	ENST00000584437.1	-	1	1986_1990	c.31_35delGCCCT	c.(31-36)gccctcfs	p.AL11fs	RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	11					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCAGAGGGCAGCCAGCTGC	0.556																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(31-36)cfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492904_56492908delAGGGC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.31_35delGCCCT	17.37:g.56492904_56492908delAGGGC	ENSP00000463069:p.Ala11fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs	p.AL11fs			Q68DV7	RNF43_HUMAN			1	1986_1990	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		11					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.31_35delGCCCT	CCDS11607.1																																																																																				0.556	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		42	134						42	134	---	---	---	---	-	56492908	AGGGC	-	56492904	7	5	17	1	0	1	0	1	0	0	0	0	13545	304	11	0	2352	0	RNF43	17	56492904	Frame_Shift_Del	DEL	AGGGC	TCGA-2L-AAQA-01A-21D-A38G-08	14266923	56492904	24702306	231	2098											
EXOC7	23265	broad.mit.edu	37	chr17	74097870	74097870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgctgcagattctcCgtctgcttgtgcacagggat	12	12	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000335146.7	-	3	254	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000405575.4_Silent_p.T67T			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(199-201)acG>acA		exocyst complex component 7							95	86	89					17																	74097870		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097870C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.201G>A	17.37:g.74097870C>T						EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000335146.7_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T	p.T67T	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	295	-			67					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.201G>A	CCDS45782.1																																																																																				0.522	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		105	123	0	0	0	1	0	105	123					T	74097870	C	T	74097870	2	4	17	1	0	0	0	0	0	0	0	1	5328	639	23	1		1	EXOC7	17	74097870	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	17604966	74097870	7097340	232	2099											
RAB40B	10966	broad.mit.edu	37	chr17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgcccaggcgctcggCgtaggcctgggcctgctccg	16	16	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571880.1_5'Flank	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(433-435)Gcc>Acc		RAB40B, member RAS oncogene family							39	40	40					17																	80616499		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80616499C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.433G>A	17.37:g.80616499C>T	ENSP00000461785:p.Ala145Thr					RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	p.A145T	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	564	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	145					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.433G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306869	0.95629	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.84804	0.5553	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	D	0.89908	0.4049	9	0.87932	D	0	.	16.2189	0.82244	0.0:1.0:0.0:0.0	.	145	Q12829	RB40B_HUMAN	T	145;179	.	ENSP00000269347:A145T	A	-	1	0	RAB40B	78209788	1.000000	0.71417	0.792000	0.32020	0.907000	0.53573	5.860000	0.69546	2.082000	0.62665	0.591000	0.81541	GCC		0.652	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			78	151	0	0	0	1	0	78	151					T	80616499	C	T	80616499	3	4	17	1	0	0	0	0	1	0	0	0	12991	768	27	1	411	1	RAB40B	17	80616499	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	6518629	80616499	578711	233	2100											
CDH2	1000	broad.mit.edu	37	chr18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaataagggttttcatttaCgtcaataactgtaacagaca	6	6	2	1	rs201148355		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468																																						ENST00000269141.3																			1	Substitution - Missense(1)	p.V491I(1)	cervix(1)	NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1471-1473)Gta>Ata		cadherin 2, type 1, N-cadherin (neuronal)		C	ILE/VAL	0,4406		0,0,2203	133	123	127		1471	6.2	1	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570188C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1471G>A	18.37:g.25570188C>T	ENSP00000269141:p.Val491Ile					CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	p.V491I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			10	1894	-			491			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1471G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	CDH2	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		147	175	0	0	0	1	0	147	175					T	25570188	C	T	25570188	3	4	17	1	0	0	0	0	1	0	0	0	3114	536	19	1	1277	1	CDH2	18	25570188	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		25570188	52507060	234	2101											
ALPK2	115701	broad.mit.edu	37	chr18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctctcttactgattcAtccatgttgagcagattgtc	7	10	4	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1462-1464)gaT>gaA		alpha-kinase 2							148	149	148					18																	56246544		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246544A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1464T>A	18.37:g.56246544A>T	ENSP00000354991:p.Asp488Glu		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D488E	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1677	-			488					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1464T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251969	0.22880	.	.	ENSG00000198796	ENST00000361673	T	0.54479	0.57	5.34	-0.259	0.12971	.	0.515524	0.15105	N	0.280317	T	0.31231	0.0790	L	0.33485	1.01	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.09122	-1.0689	10	0.35671	T	0.21	-8.4846	4.6008	0.12352	0.3972:0.4204:0.0685:0.1138	.	488	Q86TB3	ALPK2_HUMAN	E	488	ENSP00000354991:D488E	ENSP00000354991:D488E	D	-	3	2	ALPK2	54397524	0.027000	0.19231	0.028000	0.17463	0.004000	0.04260	0.054000	0.14205	-0.291000	0.09012	-0.313000	0.08912	GAT		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		169	223	0	0	0	1	0	169	223					T	56246544	A	T	56246544	3	4	17	1	0	0	0	0	1	0	0	0	545	214	8	5	5088	5	ALPK2	18	56246544	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	30676356	56246544	21830704	235	2102											
ZNF407	55628	broad.mit.edu	37	chr18	72775723	72775723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaaggcaggcccggcGccaaagacgtgctgatccag	15	12	0	2	rs546961134		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:72775723G>A	ENST00000299687.5	+	8	6046	c.6046G>A	c.(6046-6048)Gcc>Acc	p.A2016T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		CAGGCCCGGCGCCAAAGACGT	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15254	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6046-6048)Gcc>Acc		zinc finger protein 407							17	23	21					18																	72775723		2094	4209	6303	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775723G>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.6046G>A	18.37:g.72775723G>A	ENSP00000299687:p.Ala2016Thr						p.A2016T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6046	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2016					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6046G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327690	0.10956	.	.	ENSG00000215421	ENST00000299687	T	0.09538	2.97	4.7	2.79	0.32731	.	.	.	.	.	T	0.05823	0.0152	N	0.03608	-0.345	0.21782	N	0.999542	B	0.20988	0.05	B	0.14023	0.01	T	0.42498	-0.9448	9	0.34782	T	0.22	.	14.2177	0.65805	0.0:0.7125:0.2875:0.0	.	2016	Q9C0G0	ZN407_HUMAN	T	2016	ENSP00000299687:A2016T	ENSP00000299687:A2016T	A	+	1	0	ZNF407	70904711	0.015000	0.18098	0.002000	0.10522	0.021000	0.10359	2.667000	0.46808	-1.327000	0.02264	0.561000	0.74099	GCC		0.672	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	113	0	0	0	1	0	4	113					A	72775723	G	A	72775723	3	1	17	1	0	0	0	0	1	0	0	0	17940	1087	38	1	6206	1	ZNF407	18	72775723	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	16529179	72775723	5301525	236	2103											
ZNF516	9658	broad.mit.edu	37	chr18	74153538	74153538	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagcggggatcgaggtgGccggcgggcgcggggtcccc	22	13	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:74153538G>T	ENST00000443185.2	-	3	1790	c.1473C>A	c.(1471-1473)ggC>ggA	p.G491G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GATCGAGGTGGCCGGCGGGCG	0.751																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1471-1473)ggC>ggA		zinc finger protein 516							1	2	2					18																	74153538		1120	2556	3676	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153538G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1473C>A	18.37:g.74153538G>T						ZNF516_ENST00000524431.2_5'UTR	p.G491G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1790	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	491						Silent	SNP	ENST00000443185.2	37	c.1473C>A																																																																																					0.751	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		3	18	1	0	1	1	1	3	18					T	74153538	G	T	74153538	2	4	17	1	0	0	0	0	0	0	0	1	18013	1190	42	3		3	ZNF516	18	74153538	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1377815	74153538	3923710	237	2104											
GIPC3	126326	broad.mit.edu	37	chr19	3590165	3590165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgtgggccgccatcggcGaggccagagaggcctgtggc	18	11	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:3590165G>A	ENST00000322315.5	+	6	961	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	306										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGGCGAGGCCAGAGA	0.692																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(916-918)Gag>Aag		GIPC PDZ domain containing family, member 3							22	28	26					19																	3590165		2201	4299	6500	SO:0001583	missense	126326							g.chr19:3590165G>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.916G>A	19.37:g.3590165G>A	ENSP00000319254:p.Glu306Lys						p.E306K	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	6	961	+			306					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.916G>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221360	0.58560	.	.	ENSG00000179855	ENST00000322315	D	0.81821	-1.54	4.28	3.24	0.37175	.	0.230912	0.34484	N	0.003933	T	0.61173	0.2326	N	0.05441	-0.05	0.47778	D	0.999517	B	0.17667	0.023	B	0.06405	0.002	T	0.62469	-0.6848	10	0.87932	D	0	-20.0055	9.1236	0.36801	0.1092:0.0:0.8908:0.0	.	306	Q8TF64	GIPC3_HUMAN	K	306	ENSP00000319254:E306K	ENSP00000319254:E306K	E	+	1	0	GIPC3	3541165	1.000000	0.71417	0.992000	0.48379	0.789000	0.44602	4.838000	0.62803	1.948000	0.56530	0.491000	0.48974	GAG		0.692	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		3	42	0	0	0	1	0	3	42					A	3590165	G	A	3590165	3	1	17	1	0	0	0	0	1	0	0	0	6423	1059	37	1	938	1	GIPC3	19	3590165	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		3590165	55538818	238	2105											
SAFB	6294	broad.mit.edu	37	chr19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-													ccgggactcccgcgatggctGggggggctatggctctgaca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:5667115delG	ENST00000292123.5	+	18	2500	c.2393delG	c.(2392-2394)tggfs	p.W798fs	SAFB_ENST00000592224.1_Frame_Shift_Del_p.W797fs|SAFB_ENST00000538656.1_Frame_Shift_Del_p.W640fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.W729fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.W798fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.W628fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2392-2394)tgfs		scaffold attachment factor B							33	39	37					19																	5667115		2200	4289	6489	SO:0001589	frameshift_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5667115delG	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2393delG	19.37:g.5667115delG	ENSP00000292123:p.Trp798fs					SAFB_ENST00000592224.1_Frame_Shift_Del_p.W797fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.W798fs|SAFB_ENST00000538656.1_Frame_Shift_Del_p.W640fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.W729fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.W628fs	p.W798fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	18	2500	+			798			Arg-rich.|Gly-rich.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Frame_Shift_Del	DEL	ENST00000292123.5	37	c.2393delG	CCDS12142.1																																																																																				0.642	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			7	531						7	531	---	---	---	---	-	5667115	G	-	5667115	7	5	17	1	0	1	0	1	0	0	0	0	13856	1357	47	0	2463	0	SAFB	19	5667115	Frame_Shift_Del	DEL	G	TCGA-2L-AAQA-01A-21D-A38G-08	2076950	5667115	53461868	239	2106											
LRRC8E	80131	broad.mit.edu	37	chr19	7963780	7963780	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccttacctcgtggtcattCacacactcatcttcatggtc	5	15	5	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:7963780C>T	ENST00000306708.6	+	3	474	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGGTCATTCACACACTCAT	0.483																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(373-375)Cac>Tac		leucine rich repeat containing 8 family, member E							152	145	148					19																	7963780		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963780C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.373C>T	19.37:g.7963780C>T	ENSP00000306524:p.His125Tyr					AC010336.1_ENST00000539278.1_3'UTR	p.H125Y	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	474	+			125					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.373C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742643	0.69418	.	.	ENSG00000171017	ENST00000306708	T	0.32515	1.45	5.19	5.19	0.71726	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59862	-0.7374	10	0.87932	D	0	.	16.2508	0.82485	0.0:1.0:0.0:0.0	.	125	Q6NSJ5	LRC8E_HUMAN	Y	125	ENSP00000306524:H125Y	ENSP00000306524:H125Y	H	+	1	0	LRRC8E	7869780	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	7.643000	0.83403	2.709000	0.92574	0.655000	0.94253	CAC		0.483	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		6	916	0	0	0	1	0	6	916					T	7963780	C	T	7963780	3	4	17	1	0	0	0	0	1	0	0	0	9063	826	29	2	379	2	LRRC8E	19	7963780	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2296665	7963780	51165203	240	2107											
MYO1F	4542	broad.mit.edu	37	chr19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaaagccatcgaactttCgctctcgcacctcctccagg	9	16	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2071-2073)cGa>cAa		myosin IF							82	87	86					19																	8595429		2007	4161	6168	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595429C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2072G>A	19.37:g.8595429C>T	ENSP00000344871:p.Arg691Gln						p.R691Q	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			20	2339	-			691					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2072G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683094	0.96774	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95205	-3.64	5.36	5.36	0.76844	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.54174	0.744	D	0.95729	0.8773	10	0.41790	T	0.15	.	18.1619	0.89710	0.0:1.0:0.0:0.0	.	691	O00160	MYO1F_HUMAN	Q	736;691	ENSP00000344871:R691Q	ENSP00000304899:R736Q	R	-	2	0	MYO1F	8501429	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.748000	0.85085	2.532000	0.85374	0.555000	0.69702	CGA		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	659	0	0	0	1	0	20	659					T	8595429	C	T	8595429	3	4	17	1	0	0	0	0	1	0	0	0	10114	884	31	1	1260	1	MYO1F	19	8595429	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	631649	8595429	50533554	241	2108											
DOCK6	57572	broad.mit.edu	37	chr19	11363475	11363475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcatccttggggatccCgggctccgtggtccggcatt	12	15	1	0	rs555194695		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11363475C>T	ENST00000294618.7	-	3	303	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	98					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTGGGGATCCCGGGCTCCGTG	0.637																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(292-294)Ggg>Agg		dedicator of cytokinesis 6							23	26	25					19																	11363475		1947	4138	6085	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11363475C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.292G>A	19.37:g.11363475C>T	ENSP00000294618:p.Gly98Arg						p.G98R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			3	303	-			98					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.292G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852942	0.17106	.	.	ENSG00000130158	ENST00000294618	T	0.40225	1.04	4.59	3.47	0.39725	.	0.237733	0.36338	N	0.002658	T	0.25005	0.0607	N	0.22421	0.69	0.80722	D	1	P	0.37398	0.593	B	0.29524	0.103	T	0.10132	-1.0643	10	0.33141	T	0.24	-29.2602	12.9682	0.58497	0.0:0.8359:0.1641:0.0	.	98	Q96HP0	DOCK6_HUMAN	R	98	ENSP00000294618:G98R	ENSP00000294618:G98R	G	-	1	0	DOCK6	11224475	0.162000	0.22906	0.756000	0.31282	0.409000	0.31022	1.594000	0.36697	2.100000	0.63781	0.561000	0.74099	GGG		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		4	189	0	0	0	1	0	4	189					T	11363475	C	T	11363475	3	4	17	1	0	0	0	0	1	0	0	0	4707	652	23	1	6035	1	DOCK6	19	11363475	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2768046	11363475	47765508	242	2109											
LPPR2	64748	broad.mit.edu	37	chr19	11474857	11474857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccgaggtctgcaggccGcattcgacaccggcacggct	13	15	1	0	rs201858119		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11474857G>A	ENST00000251473.5	+	9	1344	c.968G>A	c.(967-969)cGc>cAc	p.R323H	DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTGCAGGCCGCATTCGACAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13187	0.0		0.001	False		,,,				2504	0.0					ENST00000251473.5																			0											c.(967-969)cGc>cAc									68	78	75					19																	11474857		2203	4300	6503	SO:0001583	missense	0							g.chr19:11474857G>A																												ENST00000251473.5:c.968G>A	19.37:g.11474857G>A	ENSP00000251473:p.Arg323His					DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	p.R323H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					9	1344	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.968G>A	CCDS12258.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.04	3.011123	0.54361	.	.	ENSG00000105520	ENST00000251473	T	0.32023	1.47	4.83	2.39	0.29439	.	2.078530	0.01797	N	0.032683	T	0.23532	0.0569	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30001	-0.9993	9	0.31617	T	0.26	.	5.8218	0.18532	0.1106:0.2557:0.6337:0.0	.	323	Q96GM1	LPPR2_HUMAN	H	323	ENSP00000251473:R323H	ENSP00000251473:R323H	R	+	2	0	AC024575.1	11335857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.890000	0.39728	1.168000	0.42723	0.313000	0.20887	CGC		0.647	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			5	683	0	0	0	1	0	5	683					A	11474857	G	A	11474857	3	1	17	1	0	0	0	0	1	0	0	0	8963	1087	38	1	1010	1	LPPR2	19	11474857	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	111382	11474857	47654126	243	2110											
PRDX2	7001	broad.mit.edu	37	chr19	12911057	12911057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcgtctggtcacgtcaGcaagcagggggatgttcagg	15	9	4	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12911057G>A	ENST00000301522.2	-	4	442	c.314C>T	c.(313-315)gCt>gTt	p.A105V	PRDX2_ENST00000334482.5_Missense_Mutation_p.A105V|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	105	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.			A -> G (in Ref. 2; AAA50465). {ECO:0000305}.	cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTCACGTCAGCAAGCAGGGG	0.617																																						ENST00000301522.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(313-315)gCt>gTt		peroxiredoxin 2							69	73	71					19																	12911057		2203	4300	6503	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911057G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.314C>T	19.37:g.12911057G>A	ENSP00000301522:p.Ala105Val					PRDX2_ENST00000334482.5_Missense_Mutation_p.A105V|CTD-2659N19.10_ENST00000585496.1_RNA	p.A105V	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN			4	442	-			105	A -> G (in Ref. 2; AAA50465).		Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.314C>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425015	0.96131	.	.	ENSG00000167815	ENST00000334482;ENST00000301522	T;T	0.16073	2.37;2.37	5.22	4.16	0.48862	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.285870	0.29587	N	0.011727	T	0.44286	0.1286	M	0.83483	2.645	0.80722	D	1	D	0.65815	0.995	D	0.68483	0.958	T	0.51965	-0.8638	10	0.87932	D	0	-36.4606	14.5859	0.68322	0.0:0.1476:0.8524:0.0	.	105	P32119	PRDX2_HUMAN	V	105	ENSP00000334063:A105V;ENSP00000301522:A105V	ENSP00000301522:A105V	A	-	2	0	PRDX2	12772057	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.344000	0.97050	1.181000	0.42912	0.561000	0.74099	GCT		0.617	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		6	559	0	0	0	1	0	6	559					A	12911057	G	A	12911057	3	1	17	1	0	0	0	0	1	0	0	0	12512	971	34	2	294	2	PRDX2	19	12911057	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1436200	12911057	46217926	244	2111											
MAST1	22983	broad.mit.edu	37	chr19	12969534	12969534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcggcgccacctctgcatGgtcatggaatatgtggaagg	13	10	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12969534G>T	ENST00000251472.4	+	12	1386	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	MAST1_ENST00000591495.1_Missense_Mutation_p.M445I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCTCTGCATGGTCATGGAAT	0.632																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1345-1347)atG>atT		microtubule associated serine/threonine kinase 1							60	53	56					19																	12969534		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969534G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1347G>T	19.37:g.12969534G>T	ENSP00000251472:p.Met449Ile					MAST1_ENST00000591495.1_Missense_Mutation_p.M445I	p.M449I	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1386	+			449			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1347G>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510173	0.85282	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.20200	2.09	4.6	4.6	0.57074	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	0.27205	0.0667	N	0.11870	0.19	0.58432	D	0.999999	P;P	0.50819	0.939;0.877	P;P	0.62740	0.906;0.748	T	0.21042	-1.0257	10	0.87932	D	0	-39.1956	15.2839	0.73814	0.0:0.0:1.0:0.0	.	449;449	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	449	ENSP00000251472:M449I	ENSP00000251472:M449I	M	+	3	0	MAST1	12830534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.823000	0.99369	2.292000	0.77174	0.561000	0.74099	ATG		0.632	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	223	1	0	1	1	1	4	223					T	12969534	G	T	12969534	3	4	17	1	0	0	0	0	1	0	0	0	9365	1348	47	3	1393	3	MAST1	19	12969534	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	58477	12969534	46159449	245	2112											
FARSA	2193	broad.mit.edu	37	chr19	13039467	13039467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgaagggccggtcccGccaagagccactgggggagg	19	11	0	2	rs376853642		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:13039467G>A	ENST00000314606.4	-	6	625	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R172W|FARSA_ENST00000588025.1_Missense_Mutation_p.R243W	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	203					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.R203W(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGCCGGTCCCGCCAAGAGCCA	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13338	0.0		0.0	False		,,,				2504	0.0					ENST00000588025.1																			1	Substitution - Missense(1)	p.R203W(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(727-729)Cgg>Tgg		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						21	21	21					19																	13039467		2202	4300	6502	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039467G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.607C>T	19.37:g.13039467G>A	ENSP00000320309:p.Arg203Trp					FARSA_ENST00000423140.2_Missense_Mutation_p.R172W|FARSA_ENST00000314606.4_Missense_Mutation_p.R203W	p.R243W			Q9Y285	SYFA_HUMAN			7	867	-			203					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.727C>T	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739630	0.69304	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.65178	-0.14;0.46	4.94	1.37	0.22104	.	0.056564	0.64402	D	0.000003	T	0.75788	0.3897	M	0.81497	2.545	0.53005	D	0.999962	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.62813	0.907;0.747;0.747	T	0.78409	-0.2215	10	0.87932	D	0	-19.5466	13.071	0.59061	0.0:0.0:0.3108:0.6892	.	172;203;203	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	W	203;172	ENSP00000320309:R203W;ENSP00000396548:R172W	ENSP00000320309:R203W	R	-	1	2	FARSA	12900467	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.783000	0.38664	0.189000	0.20188	0.563000	0.77884	CGG		0.687	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		4	93	0	0	0	1	0	4	93					A	13039467	G	A	13039467	3	1	17	1	0	0	0	0	1	0	0	0	5704	1086	38	1	951	1	FARSA	19	13039467	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	69933	13039467	46089516	246	2113											
RASAL3	64926	broad.mit.edu	37	chr19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcccggaacagcagcGcctcacggcctccacagcgc	10	17	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.7	-	10	1572	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(1486-1488)gCg>gTg		RAS protein activator like 3							67	72	70					19																	15567402		2182	4278	6460	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15567402G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1487C>T	19.37:g.15567402G>A	ENSP00000341905:p.Ala496Val					RASAL3_ENST00000595098.1_5'UTR	p.A496V	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			10	1567	-			496			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1487C>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.834497	0.71373	.	.	ENSG00000105122	ENST00000343625	T	0.79554	-1.28	4.37	4.37	0.52481	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.212338	0.22735	U	0.056263	T	0.82098	0.4963	L	0.49350	1.555	0.38814	D	0.955492	D	0.56968	0.978	P	0.54312	0.748	T	0.80476	-0.1366	10	0.23302	T	0.38	.	14.8191	0.70059	0.0:0.0:1.0:0.0	.	496	Q86YV0	RASL3_HUMAN	V	496	ENSP00000341905:A496V	ENSP00000341905:A496V	A	-	2	0	RASAL3	15428402	0.007000	0.16637	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.158000	0.67659	0.558000	0.71614	GCG		0.617	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		42	106	0	0	0	1	0	42	106					A	15567402	G	A	15567402	3	1	17	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1584	1	RASAL3	19	15567402	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2527935	15567402	43561581	247	2114											
UNC13A	23025	broad.mit.edu	37	chr19	17753758	17753758	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccgacacggcagatttgtCagttcgcttgtctgcagggc	12	12	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:17753758C>A	ENST00000519716.2	-	20	2367	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	UNC13A_ENST00000551649.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D790Y|UNC13A_ENST00000428389.2_Missense_Mutation_p.D878Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D788Y	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	790					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGATTTGTCAGTTCGCTTG	0.502																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2632-2634)Gac>Tac		unc-13 homolog A (C. elegans)							43	44	44					19																	17753758		1957	4136	6093	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17753758C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2368G>T	19.37:g.17753758C>A	ENSP00000429562:p.Asp790Tyr					UNC13A_ENST00000519716.2_Missense_Mutation_p.D790Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D790Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D788Y	p.D878Y			Q9UPW8	UN13A_HUMAN			21	2631	-			790					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2632G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322235	0.60634	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	3.46	3.46	0.39613	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.83031	0.5166	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.85752	0.1344	10	0.87932	D	0	-24.2379	12.7835	0.57491	0.0:1.0:0.0:0.0	.	790	Q9UPW8	UN13A_HUMAN	Y	790;878;790;790;790;788	ENSP00000429562:D790Y;ENSP00000400409:D878Y;ENSP00000252773:D790Y;ENSP00000447236:D790Y;ENSP00000447572:D790Y;ENSP00000446831:D788Y	ENSP00000252773:D790Y	D	-	1	0	UNC13A	17614758	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.545000	0.82128	1.658000	0.50742	0.313000	0.20887	GAC		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	99	1	0	2.56e-06	1	3.04597e-06	4	99					A	17753758	C	A	17753758	3	1	17	1	0	0	0	0	1	0	0	0	17038	826	29	3	2839	3	UNC13A	19	17753758	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2186356	17753758	41375225	248	2115											
KLHL26	55295	broad.mit.edu	37	chr19	18779455	18779455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtgcggcatggtgtaCgccacgggcggccgcaaccg	17	13	0	0	rs372983424		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:18779455C>T	ENST00000300976.4	+	3	1338	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	416										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCATGGTGTACGCCACGGGCG	0.687																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1246-1248)taC>taT		kelch-like family member 26		C		0,4278		0,0,2139	7	7	7		1248	-3	1	19		7	1,8387		0,1,4193	no	coding-synonymous	KLHL26	NM_018316.1		0,1,6332	TT,TC,CC		0.0119,0.0,0.0079		416/616	18779455	1,12665	2139	4194	6333	SO:0001819	synonymous_variant	55295							g.chr19:18779455C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1248C>T	19.37:g.18779455C>T						KLHL26_ENST00000599006.1_Intron	p.Y416Y	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1338	+			416					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1248C>T	CCDS12384.1																																																																																				0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		3	53	0	0	0	1	0	3	53					T	18779455	C	T	18779455	2	4	17	1	0	0	0	0	0	0	0	1	8411	547	19	1		1	KLHL26	19	18779455	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1025697	18779455	40349528	249	2116											
ZNF208	7757	broad.mit.edu	37	chr19	22155721	22155721	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgttccataaggtttgaGgaccagttgaaagctttgcc	10	7	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:22155721G>T	ENST00000397126.4	-	4	2263	c.2115C>A	c.(2113-2115)tcC>tcA	p.S705S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	705					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.S605S(2)|p.S705S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.368																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.S605S(2)|p.S705S(1)	large_intestine(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2113-2115)tcC>tcA		zinc finger protein 208							36	38	37					19																	22155721		2008	4197	6205	SO:0001819	synonymous_variant	7757							g.chr19:22155721G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2115C>A	19.37:g.22155721G>T						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.S705S	NM_007153.3	NP_009084.2					4	2263	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2115C>A	CCDS54240.1																																																																																				0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	503	1	0	0.00198382	1	0.00225346	5	503					T	22155721	G	T	22155721	2	4	17	1	0	0	0	0	0	0	0	1	17819	987	35	3		3	ZNF208	19	22155721	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3376266	22155721	36973262	250	2117											
PDCD2L	84306	broad.mit.edu	37	chr19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccttgtcctaggtatTcctggagtggagagccactc	11	10	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493																																						ENST00000246535.3																			0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(802-804)Tcc>Ccc		programmed cell death 2-like							198	213	208					19																	34912428		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34912428T>C	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.802T>C	19.37:g.34912428T>C	ENSP00000246535:p.Ser268Pro					PDCD2L_ENST00000587065.2_5'UTR	p.S268P	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	849	+	Esophageal squamous(110;0.162)		268						Missense_Mutation	SNP	ENST00000246535.3	37	c.802T>C	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486734	0.63962	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	4.94	0.65067	Programmed cell death protein 2, C-terminal (1);	0.144113	0.64402	D	0.000004	T	0.81451	0.4825	M	0.91196	3.185	0.41755	D	0.989686	D	0.76494	0.999	D	0.73708	0.981	D	0.83431	0.0038	9	0.48119	T	0.1	-15.8635	11.5108	0.50492	0.1347:0.0:0.0:0.8653	.	268	Q9BRP1	PDD2L_HUMAN	P	268	.	ENSP00000246535:S268P	S	+	1	0	PDCD2L	39604268	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	3.088000	0.50175	1.048000	0.40298	0.477000	0.44152	TCC		0.493	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		345	797	0	0	0	1	0	345	797					C	34912428	T	C	34912428	3	2	17	1	0	0	0	0	1	0	0	0	11662	1783	62	4	824	4	PDCD2L	19	34912428	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	12756707	34912428	24216555	251	2118											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572845	38572845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgacgtgcagggcatgCccgagcagagcttcttcgac	12	14	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38572845C>T	ENST00000222345.6	+	3	1149	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	214					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGGCATGCCCGAGCAGAG	0.726																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(640-642)Ccc>Tcc		signal-induced proliferation-associated 1 like 3							38	35	36					19																	38572845		2159	4222	6381	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572845C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.640C>T	19.37:g.38572845C>T	ENSP00000222345:p.Pro214Ser						p.P214S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1149	+			214					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.640C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283290	0.01398	.	.	ENSG00000105738	ENST00000222345	T	0.71698	-0.59	5.48	4.4	0.53042	.	0.195946	0.46145	D	0.000316	T	0.27900	0.0687	N	0.00595	-1.35	0.39352	D	0.965771	B	0.09022	0.002	B	0.06405	0.002	T	0.49103	-0.8974	10	0.02654	T	1	-23.5056	4.3068	0.10951	0.0:0.6962:0.0:0.3038	.	214	O60292	SI1L3_HUMAN	S	214	ENSP00000222345:P214S	ENSP00000222345:P214S	P	+	1	0	SIPA1L3	43264685	0.156000	0.22821	0.880000	0.34516	0.198000	0.23893	0.711000	0.25764	2.584000	0.87258	0.563000	0.77884	CCC		0.726	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	367	0	0	0	1	0	5	367					T	38572845	C	T	38572845	3	4	17	1	0	0	0	0	1	0	0	0	14381	739	26	2	642	2	SIPA1L3	19	38572845	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3660417	38572845	20556138	252	2119											
DPF1	8193	broad.mit.edu	37	chr19	38704302	38704302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgttctcggaggttccGcacaggctgcaggatttgca	13	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38704302G>A	ENST00000420980.2	-	9	968	c.942C>T	c.(940-942)tgC>tgT	p.C314C	DPF1_ENST00000416611.1_Silent_p.C332C|DPF1_ENST00000412732.1_Silent_p.C276C|DPF1_ENST00000414789.1_Silent_p.C276C|DPF1_ENST00000456296.1_Silent_p.C332C|DPF1_ENST00000355526.4_Silent_p.C358C	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	314					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAGGTTCCGCACAGGCTGC	0.657																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(994-996)tgC>tgT		D4, zinc and double PHD fingers family 1							66	63	64					19																	38704302		2203	4300	6503	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38704302G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.942C>T	19.37:g.38704302G>A						DPF1_ENST00000412732.1_Silent_p.C276C|DPF1_ENST00000355526.4_Silent_p.C358C|DPF1_ENST00000420980.2_Silent_p.C314C|DPF1_ENST00000456296.1_Silent_p.C332C|DPF1_ENST00000414789.1_Silent_p.C276C	p.C332C			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		10	1119	-	all_cancers(60;1.24e-06)		314					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.996C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275753	0.23307	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.05	-7.35	0.01422	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64015	-0.6506	4	.	.	.	-9.9159	13.5839	0.61919	0.724:0.0:0.276:0.0	.	.	.	.	W	351	.	.	R	-	1	2	DPF1	43396142	0.042000	0.20092	0.916000	0.36221	0.910000	0.53928	-0.697000	0.05098	-1.258000	0.02471	-0.390000	0.06520	CGG		0.657	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			6	484	0	0	0	1	0	6	484					A	38704302	G	A	38704302	2	1	17	1	0	0	0	0	0	0	0	1	4732	1079	38	1		1	DPF1	19	38704302	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	131457	38704302	20424681	253	2120											
ZNF780A	284323	broad.mit.edu	37	chr19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaTaccagcatgaatactctgat	5	8	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					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.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178	182	180					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		10	1486	0	0	0	1	0	10	1486					C	40581109	T	C	40581109	3	2	17	1	0	0	0	0	1	0	0	0	18205	1406	49	4	816	4	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	1876807	40581109	18547874	254	2121											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"CDK4-binding protein p34SEI", "transcriptional regulator interacting with the PHD-bromodomain 1"					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		8	291						8	291	---	---	---	---	-	40929411	CTC	-	40929409	7	5	17	1	0	1	0	1	0	0	0	0	14170	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-2L-AAQA-01A-21D-A38G-08	348300	40929409	18199574	255	2122											
BCKDHA	593	broad.mit.edu	37	chr19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcttaacaccatggaccGcatcctctatgagtctcagc	7	14	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(349-351)cGc>cAc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144	131	136					19																	41916889		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916889G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.350G>A	19.37:g.41916889G>A	ENSP00000269980:p.Arg117His					BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H	p.R117H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			3	718	+			117					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.350G>A	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.349762|5.349762	0.95830|0.95830	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000457836;ENST00000378196	.|D;D;D	.|0.99194	.|-5.54;-5.54;-5.54	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.69078	.|0.997;0.49;0.986;0.129	.|D;B;P;B	.|0.64144	.|0.922;0.041;0.751;0.043	D|D	0.99620|0.99620	1.0983|1.0983	5|10	.|0.45353	.|T	.|0.12	-22.6744|-22.6744	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;117;117;151	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	T|H	53|151;117;95;117	.|ENSP00000443246:R151H;ENSP00000269980:R117H;ENSP00000416000:R95H	.|ENSP00000269980:R117H	A|R	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46608729|46608729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.252000|9.252000	0.95491|0.95491	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	916	0	0	0	1	0	7	916					A	41916889	G	A	41916889	3	1	17	1	0	0	0	0	1	0	0	0	1360	1087	38	1	360	1	BCKDHA	19	41916889	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	987480	41916889	17212094	256	2123											
CIC	23152	broad.mit.edu	37	chr19	42794716	42794716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggatcctgccaccttccGgcgcaagagacccgaaagtg	11	13	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:42794716G>A	ENST00000575354.2	+	10	1836	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1508Q|CIC_ENST00000160740.3_Missense_Mutation_p.R599Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	599	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCACCTTCCGGCGCAAGAGA	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4522-4524)cGg>cAg		capicua transcriptional repressor							47	56	53					19																	42794716		2202	4298	6500	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794716G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1796G>A	19.37:g.42794716G>A	ENSP00000458663:p.Arg599Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R599Q|CIC_ENST00000575354.2_Missense_Mutation_p.R599Q	p.R1508Q			Q96RK0	CIC_HUMAN			11	4591	+		Prostate(69;0.00682)	599					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4523G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278484	0.59758	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.46268	0.1384	N	0.08118	0	0.33212	D	0.553589	D	0.64830	0.994	P	0.61201	0.885	T	0.61357	-0.7079	8	0.87932	D	0	-14.1927	14.1309	0.65253	0.0:0.0:1.0:0.0	.	599	Q96RK0	CIC_HUMAN	Q	599	.	ENSP00000160740:R599Q	R	+	2	0	CIC	47486556	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.324000	0.52022	2.489000	0.83994	0.491000	0.48974	CGG		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	706	0	0	0	1	0	8	706					A	42794716	G	A	42794716	3	1	17	1	0	0	0	0	1	0	0	0	3433	1116	39	1	1834	1	CIC	19	42794716	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	877827	42794716	16334267	257	2124											
CEACAM8	1088	broad.mit.edu	37	chr19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccctgccaggggatgCgccatctgcaggaaggggct	17	12	1	0	rs143763173		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106	97	100		35	-2.9	0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			6	674	0	0	0	1	0	6	674					T	43098946	C	T	43098946	3	4	17	1	0	0	0	0	1	0	0	0	3207	768	27	1	1034	1	CEACAM8	19	43098946	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	304230	43098946	16030037	258	2125											
CLPTM1	1209	broad.mit.edu	37	chr19	45494548	45494548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcctgggctgctatgCcgtctacagtcttctgtacc	9	16	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:45494548C>T	ENST00000337392.5	+	12	1622	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	CLPTM1_ENST00000541297.2_Missense_Mutation_p.A477V|CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCTGCTATGCCGTCTACAGT	0.637																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1429-1431)gCc>gTc		cleft lip and palate associated transmembrane protein 1							249	214	226					19																	45494548		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494548C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1472C>T	19.37:g.45494548C>T	ENSP00000336994:p.Ala491Val					CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V|CLPTM1_ENST00000337392.5_Missense_Mutation_p.A491V	p.A477V			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1895	+		all_neural(266;0.224)|Ovarian(192;0.231)	491					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1430C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475190	0.96291	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.91038	3.17	0.80722	D	1	P;P	0.45283	0.855;0.775	P;P	0.57009	0.772;0.811	D	0.86836	0.2014	9	0.72032	D	0.01	-27.9628	16.9789	0.86322	0.0:1.0:0.0:0.0	.	477;491	F5H8J3;O96005	.;CLPT1_HUMAN	V	389;477;491;491	.	ENSP00000336994:A491V	A	+	2	0	CLPTM1	50186388	1.000000	0.71417	0.957000	0.39632	0.893000	0.52053	7.144000	0.77357	2.610000	0.88304	0.650000	0.86243	GCC		0.637	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		7	1240	0	0	0	1	0	7	1240					T	45494548	C	T	45494548	3	4	17	1	0	0	0	0	1	0	0	0	3563	739	26	2	1518	2	CLPTM1	19	45494548	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2395602	45494548	13634435	259	2126											
RASIP1	54922	broad.mit.edu	37	chr19	49224157	49224157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctacggagttcacggtgCaaggcatcgtccgtcactgg	13	12	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:49224157C>T	ENST00000222145.4	-	12	2994	c.2790G>A	c.(2788-2790)ttG>ttA	p.L930L	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	930					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTTCACGGTGCAAGGCATCGT	0.652																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2788-2790)ttG>ttA		Ras interacting protein 1							54	54	54					19																	49224157		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224157C>T	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2790G>A	19.37:g.49224157C>T							p.L930L	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	2994	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	930					Q6U676	Silent	SNP	ENST00000222145.4	37	c.2790G>A	CCDS12731.1																																																																																				0.652	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		5	313	0	0	0	1	0	5	313					T	49224157	C	T	49224157	2	4	17	1	0	0	0	0	0	0	0	1	13128	709	25	2		2	RASIP1	19	49224157	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	3729609	49224157	9904826	260	2127											
VRK3	51231	broad.mit.edu	37	chr19	50492897	50492897	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatccctggcctcgtaccGcatcccttgtgcaggtccat	8	18	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:50492897G>A	ENST00000599538.1	-	11	1759	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C	VRK3_ENST00000443401.2_Splice_Site_p.C134C|VRK3_ENST00000601341.1_Splice_Site_p.C315C|VRK3_ENST00000593919.1_Splice_Site_p.C365C|VRK3_ENST00000594948.1_Splice_Site_p.C365C|VRK3_ENST00000316763.3_Splice_Site_p.C365C|VRK3_ENST00000594092.1_Splice_Site_p.C365C|VRK3_ENST00000424804.2_5'Flank|VRK3_ENST00000377011.2_Splice_Site_p.C315C|VRK3_ENST00000601912.1_Splice_Site_p.C315C			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCCTCGTACCGCATCCCTTGT	0.582																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.e11+1		vaccinia related kinase 3							93	75	81					19																	50492897		2203	4300	6503	SO:0001630	splice_region_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50492897G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1096+1C>T	19.37:g.50492897G>A						VRK3_ENST00000601912.1_Splice_Site_p.C315_splice|VRK3_ENST00000316763.3_Splice_Site_p.C365_splice|VRK3_ENST00000601341.1_Splice_Site_p.C315_splice|VRK3_ENST00000593919.1_Splice_Site_p.C365_splice|VRK3_ENST00000594092.1_Splice_Site_p.C365_splice|VRK3_ENST00000443401.2_Splice_Site_p.C134_splice|VRK3_ENST00000377011.2_Splice_Site_p.C315_splice|VRK3_ENST00000594948.1_Splice_Site_p.C365_splice	p.C365_splice			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	11	1759	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	365			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Splice_Site	SNP	ENST00000599538.1	37	c.1096_splice	CCDS12791.1																																																																																				0.582	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	Silent	4	172	0	0	0	1	0	4	172					A	50492897	G	A	50492897	5	1	17	1	0	0	0	0	0	0	1	0	17275	1101	38	1	345	1	VRK3	19	50492897	Splice_Site	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1268740	50492897	8636086	261	2128											
SBK2	646643	broad.mit.edu	37	chr19	56042597	56042597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgactcgatgccaatgccGtaggccgtcacgatggctga	13	13	1	1	rs200066533	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)taC>taT		SH3 domain binding kinase family, member 2							48	55	52					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042597G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A						SBK2_ENST00000344158.3_Silent_p.Y123Y	p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			3	406	-			123			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.369C>T	CCDS42631.1																																																																																				0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		57	139	0	0	0	1	0	57	139					A	56042597	G	A	56042597	2	1	17	1	0	0	0	0	0	0	0	1	13911	1140	40	1		1	SBK2	19	56042597	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5549700	56042597	3086386	262	2129											
EPN1	29924	broad.mit.edu	37	chr19	56203230	56203230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccccacggctgccccCacctcggacccctggggcgg	13	21	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56203230C>A	ENST00000270460.6	+	7	1184	c.873C>A	c.(871-873)ccC>ccA	p.P291P	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.P377P|EPN1_ENST00000085079.7_Silent_p.P266P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	291	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCTGCCCCCACCTCGGACC	0.746																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1129-1131)ccC>ccA		epsin 1							21	25	23					19																	56203230		1823	4055	5878	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203230C>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.873C>A	19.37:g.56203230C>A						EPN1_ENST00000085079.7_Silent_p.P266P|EPN1_ENST00000270460.6_Silent_p.P291P	p.P377P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1678	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	291			8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1131C>A	CCDS46199.1																																																																																				0.746	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		6	315	1	0	8.12818e-05	1	9.447e-05	6	315					A	56203230	C	A	56203230	2	1	17	1	0	0	0	0	0	0	0	1	5203	581	21	3		3	EPN1	19	56203230	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	160633	56203230	2925753	263	2130											
NLRP8	126205	broad.mit.edu	37	chr19	56465899	56465900	+	Frame_Shift_Ins	INS	-	-	A													gtataaatcgaatgtgatggINSaaaagtttttccccatatgg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56465899_56465900insA	ENST00000291971.3	+	3	546_547	c.475_476insA	c.(475-477)gaafs	p.E159fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.E159fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	159					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GAATGTGATGGAAAAGTTTTTC	0.426																																						ENST00000291971.3																			0				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						c.(475-477)aaafs		NLR family, pyrin domain containing 8																																				SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56465899_56465900insA	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.479dupA	19.37:g.56465903_56465903dupA	ENSP00000291971:p.Glu159fs					NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.K159fs	p.K159fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	546_547	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	159					Q7RTR4	Frame_Shift_Ins	INS	ENST00000291971.3	37	c.475_476insA	CCDS12937.1																																																																																				0.426	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		7	601						7	601	---	---	---	---	A	56465900	-	A	56465899	7	5	17	1	0	1	1	0	0	0	0	0	10525	1175	41	0	485	0	NLRP8	19	56465899	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	262669	56465899	2663084	264	2131											
ZNF787	126208	broad.mit.edu	37	chr19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcgtgcgctggtgccGcgtcagcttggaccagtggc	18	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(247-249)Cgg>Tgg		zinc finger protein 787							14	15	15					19																	56600294		2187	4273	6460	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600294G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.247C>T	19.37:g.56600294G>A	ENSP00000270459:p.Arg83Trp						p.R83W	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	365	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	83					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.247C>T	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406781	0.62399	.	.	ENSG00000142409	ENST00000270459	T	0.56275	0.47	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73860	0.3641	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78902	-0.2021	9	0.59425	D	0.04	-20.4997	12.27	0.54700	0.0:0.0:1.0:0.0	.	83	Q6DD87	ZN787_HUMAN	W	83	ENSP00000270459:R83W	ENSP00000270459:R83W	R	-	1	2	ZNF787	61292106	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-0.893000	0.04127	1.812000	0.52913	0.462000	0.41574	CGG		0.721	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		43	133	0	0	0	1	0	43	133					A	56600294	G	A	56600294	3	1	17	1	0	0	0	0	1	0	0	0	18212	1086	38	1	908	1	ZNF787	19	56600294	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	134395	56600294	2528689	265	2132											
ZNF772	400720	broad.mit.edu	37	chr19	57985322	57985322	+	Frame_Shift_Del	DEL	T	T	-													ttcactgcatttgtaatgccTttttccacagtgagaggcct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:57985322delT	ENST00000343280.4	-	5	1050	c.790delA	c.(790-792)aggfs	p.R264fs	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Frame_Shift_Del_p.R223fs|ZNF772_ENST00000427512.2_Frame_Shift_Del_p.R152fs	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTGTAATGCCTTTTTCCACAG	0.507																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(790-792)ggfs		zinc finger protein 772							96	88	90					19																	57985322		2203	4300	6503	SO:0001589	frameshift_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985322delT	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.790delA	19.37:g.57985322delT	ENSP00000341165:p.Arg264fs					ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Frame_Shift_Del_p.R152fs|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Frame_Shift_Del_p.R223fs|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	p.R264fs	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1050	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	264					A6NJK9|B4DH56|B4DYS0	Frame_Shift_Del	DEL	ENST00000343280.4	37	c.790delA	CCDS33133.1																																																																																				0.507	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		8	606						8	606	---	---	---	---	-	57985322	T	-	57985322	7	5	17	1	0	1	0	1	0	0	0	0	18198	1608	56	0	683	0	ZNF772	19	57985322	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	1385028	57985322	1143661	266	2133											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145622	3145622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccaggctggcctgcttGctgctgaaggagtcccgcag	14	13	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3145622G>T	ENST00000329152.3	-	3	2897	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	LZTS3_ENST00000337576.5_Missense_Mutation_p.S454R|LZTS3_ENST00000360342.3_Missense_Mutation_p.S454R			O60299	LZTS3_HUMAN		500						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TGGCCTGCTTGCTGCTGAAGG	0.706																																						ENST00000329152.3																			0											c.(1498-1500)agC>agA									6	6	6					20																	3145622		2123	4145	6268	SO:0001583	missense	0							g.chr20:3145622G>T																												ENST00000329152.3:c.1500C>A	20.37:g.3145622G>T	ENSP00000332123:p.Ser500Arg					LZTS3_ENST00000337576.5_Missense_Mutation_p.S454R|LZTS3_ENST00000360342.3_Missense_Mutation_p.S454R	p.S500R	NM_014731.2	NP_055546.1					3	2897	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1500C>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569854	0.86542	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.48836	0.8;0.8;0.8	4.48	4.48	0.54585	.	0.267246	0.43110	D	0.000613	T	0.58438	0.2122	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.63880	0.978;0.993	P;P	0.60012	0.719;0.867	T	0.55398	-0.8147	10	0.33940	T	0.23	-21.5	17.6945	0.88277	0.0:0.0:1.0:0.0	.	454;500	O60299-2;O60299	.;PRIP1_HUMAN	R	500;454;454	ENSP00000332123:S500R;ENSP00000353496:S454R;ENSP00000338166:S454R	ENSP00000332123:S500R	S	-	3	2	RP5-1187M17.10	3093622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.480000	0.83734	0.561000	0.74099	AGC		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			3	36	1	0	1	1	1	3	36					T	3145622	G	T	3145622	3	4	17	1	0	0	0	0	1	0	0	0	12920	1310	46	3	525	3	ProSAPiP1	20	3145622	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		3145622	59879898	267	2134											
C20orf27	54976	broad.mit.edu	37	chr20	3735071	3735071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgcaccgtcacgcGcacacaggtgccagtgccac	13	17	1	0	rs147923821	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3735071G>A	ENST00000379772.3	-	5	1207	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	C20orf27_ENST00000217195.8_Missense_Mutation_p.R158C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACCGTCACGCGCACACAGGTG	0.607																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(397-399)Cgc>Tgc		chromosome 20 open reading frame 27		G	CYS/ARG	0,4406		0,0,2203	119	101	107		472	4.8	1	20	dbSNP_134	107	5,8595	4.3+/-15.6	0,5,4295	no	missense	C20orf27	NM_001039140.1	180	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	158/200	3735071	5,13001	2203	4300	6503	SO:0001583	missense	54976							g.chr20:3735071G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.397C>T	20.37:g.3735071G>A	ENSP00000369097:p.Arg133Cys					C20orf27_ENST00000217195.8_Missense_Mutation_p.R158C	p.R133C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			5	1207	-			133					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.397C>T	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444556	0.63178	0.0	5.81E-4	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672	.	.	.	4.82	4.82	0.62117	.	0.489617	0.16493	U	0.212032	T	0.47544	0.1451	L	0.36672	1.1	0.43942	D	0.996602	P;D	0.69078	0.947;0.997	B;P	0.46975	0.219;0.533	T	0.48864	-0.8997	9	0.66056	D	0.02	-6.8665	10.7935	0.46447	0.0:0.0:0.8111:0.1889	.	133;158	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	C	133;158;133	.	ENSP00000217195:R158C	R	-	1	0	C20orf27	3683071	0.996000	0.38824	0.994000	0.49952	0.498000	0.33706	3.360000	0.52299	2.677000	0.91161	0.561000	0.74099	CGC		0.607	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		5	457	0	0	0	1	0	5	457					A	3735071	G	A	3735071	3	1	17	1	0	0	0	0	1	0	0	0	2114	1087	38	1	135	1	C20orf27	20	3735071	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	589449	3735071	59290449	268	2135											
PCNA	5111	broad.mit.edu	37	chr20	5100411	5100411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccaacaccttcttgaGgatggagccctggaccaggc	11	14	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:5100411G>A	ENST00000379160.3	-	2	276	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Missense_Mutation_p.L12F	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	12	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACCTTCTTGAGGATGGAGCCC	0.597								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.(34-36)Ctc>Ttc	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							46	37	40					20																	5100411		2202	4300	6502	SO:0001583	missense	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5100411G>A	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.34C>T	20.37:g.5100411G>A	ENSP00000368458:p.Leu12Phe					PCNA_ENST00000379143.5_Missense_Mutation_p.L12F	p.L12F	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			2	276	-			12			Interaction with NUDT15.		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.34C>T	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458219	0.84317	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.96	3.0	0.34707	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.55743	1.74	0.80722	D	1	D;P	0.64830	0.994;0.696	P;P	0.58970	0.849;0.537	T	0.61836	-0.6981	9	0.41790	T	0.15	-5.3455	10.3585	0.43977	0.1626:0.0:0.8374:0.0	.	12;12	B4DUA2;P12004	.;PCNA_HUMAN	F	12	.	ENSP00000368438:L12F	L	-	1	0	PCNA	5048411	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.204000	0.65180	0.794000	0.33899	0.563000	0.77884	CTC		0.597	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			3	38	0	0	0	1	0	3	38					A	5100411	G	A	5100411	3	1	17	1	0	0	0	0	1	0	0	0	11630	1000	35	2	775	2	PCNA	20	5100411	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1365340	5100411	57925109	269	2136											
C20orf185	359710	broad.mit.edu	37	chr20	31644477	31644477	+	Frame_Shift_Del	DEL	T	T	-													cttgctgggccacggaggggTttttggcgttgtcgaggagc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:31644477delT	ENST00000375494.3	+	2	254	c.254delT	c.(253-255)gttfs	p.V85fs	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	85	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CACGGAGGGGTTTTTGGCGTT	0.587																																						ENST00000375494.3																			0											c.(253-255)gtfs		BPI fold containing family B, member 3							94	89	91					20																	31644477		2203	4300	6503	SO:0001589	frameshift_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31644477delT	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.254delT	20.37:g.31644477delT	ENSP00000364643:p.Val85fs						p.V85fs	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			2	254	+			85			Leu-rich.		Q5TDX7	Frame_Shift_Del	DEL	ENST00000375494.3	37	c.254delT	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		7	376						7	376	---	---	---	---	-	31644477	T	-	31644477	7	5	17	1	0	1	0	1	0	0	0	0	2104	1725	60	0	260	0	C20orf185	20	31644477	Frame_Shift_Del	DEL	T	TCGA-2L-AAQA-01A-21D-A38G-08	26544066	31644477	31381043	270	2137											
ZNFX1	57169	broad.mit.edu	37	chr20	47888005	47888005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaccatggtggtctgCggttcctacagtcctggttg	13	10	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:47888005C>T	ENST00000396105.1	-	3	590	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGTGGTCTGCGGTTCCTACA	0.557																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(343-345)cGc>cAc		zinc finger, NFX1-type containing 1							265	233	244					20																	47888005		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47888005C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.344G>A	20.37:g.47888005C>T	ENSP00000379412:p.Arg115His					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115H	p.R115H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	590	-			115					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.344G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	4.581	0.107915	0.08780	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.87729	-2.02;-2.29;-2.29;-0.91	5.97	-2.45	0.06481	.	0.730054	0.13345	N	0.394848	T	0.71134	0.3304	N	0.11560	0.145	0.21553	N	0.999642	B	0.09022	0.002	B	0.04013	0.001	T	0.54470	-0.8289	10	0.25106	T	0.35	-2.3985	10.7193	0.46032	0.0:0.3405:0.0:0.6595	.	115	Q9P2E3	ZNFX1_HUMAN	H	115	ENSP00000360819:R115H;ENSP00000360817:R115H;ENSP00000379412:R115H;ENSP00000360809:R115H	ENSP00000360809:R115H	R	-	2	0	ZNFX1	47321412	0.233000	0.23772	0.921000	0.36526	0.544000	0.35116	0.059000	0.14322	-0.619000	0.05648	-0.345000	0.07892	CGC		0.557	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		8	1398	0	0	0	1	0	8	1398					T	47888005	C	T	47888005	3	4	17	1	0	0	0	0	1	0	0	0	18258	768	27	1	5460	1	ZNFX1	20	47888005	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	16243528	47888005	15137515	271	2138											
TSHZ2	128553	broad.mit.edu	37	chr20	51871827	51871827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagacaaagatgaagcGgtgaaggagtgtgggaaaga	16	3	1	6	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000329613.6_Silent_p.A607A|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.A610A(1)	large_intestine(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1828-1830)gcG>gcA		teashirt zinc finger homeobox 2							92	93	93					20																	51871827		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871827G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1830G>A	20.37:g.51871827G>A						TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	p.A610A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2717	+			610					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1830G>A	CCDS33490.1																																																																																				0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		130	395	0	0	0	1	0	130	395					A	51871827	G	A	51871827	2	1	17	1	0	0	0	0	0	0	0	1	16677	1103	39	1		1	TSHZ2	20	51871827	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3983822	51871827	11153693	272	2139											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-													ctgatgcccgagttactgctGggggggcaggggccgcccag							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)cccfs	p.P208fs	PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-624)ccfs		prostate transmembrane protein, androgen induced 1							28	33	31					20																	56227349		2203	4298	6501	SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227349delG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.624delC	20.37:g.56227349delG	ENSP00000345826:p.Pro208fs					PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	p.P208fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943	-			208					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	37	c.624delC	CCDS13463.1																																																																																				0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		76	227						76	227	---	---	---	---	-	56227349	G	-	56227349	7	5	17	1	0	1	0	1	0	0	0	0	12174	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-2L-AAQA-01A-21D-A38G-08	4355522	56227349	6798171	273	2140											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	84						16	84	---	---	---	---	G	61512381	-	G	61512380	7	5	17	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	5285031	61512380	1513140	274	2141											
DIDO1	11083	broad.mit.edu	37	chr20	61522358	61522358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaacagggtcctgggcGctcagcgggatcaggtagag	18	8	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61522358G>A	ENST00000266070.4	-	15	3820	c.3495C>T	c.(3493-3495)agC>agT	p.S1165S	DIDO1_ENST00000395335.2_Silent_p.S1165S|DIDO1_ENST00000395340.1_Silent_p.S1165S|DIDO1_ENST00000395343.1_Silent_p.S1165S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1165					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCTGGGCGCTCAGCGGGA	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3493-3495)agC>agT		death inducer-obliterator 1							98	96	97					20																	61522358		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522358G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3495C>T	20.37:g.61522358G>A						DIDO1_ENST00000395340.1_Silent_p.S1165S|DIDO1_ENST00000395335.2_Silent_p.S1165S|DIDO1_ENST00000395343.1_Silent_p.S1165S	p.S1165S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			15	3820	-	Breast(26;5.68e-08)		1165					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3495C>T	CCDS33506.1																																																																																				0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	321	0	0	0	1	0	5	321					A	61522358	G	A	61522358	2	1	17	1	0	0	0	0	0	0	0	1	4538	1078	38	1		1	DIDO1	20	61522358	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	9978	61522358	1503162	275	2142											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	255						7	255	---	---	---	---	-	27394184	GTG	-	27394182	7	5	17	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-2L-AAQA-01A-21D-A38G-08		27394182	20735713	276	2143											
DSCAM	1826	broad.mit.edu	37	chr21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatgggctccaggaccGtggggcgcttcagggtccgg	19	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5821-5823)aCg>aTg		Down syndrome cell adhesion molecule							38	41	40					21																	41385178		1960	4142	6102	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385178G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5822C>T	21.37:g.41385178G>A	ENSP00000383303:p.Thr1941Met						p.T1941M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6299	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1941	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5822C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.860756	0.71834	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.36	5.29	5.29	0.74685	.	0.345440	0.33180	N	0.005197	T	0.38585	0.1046	N	0.08118	0	0.43073	D	0.994714	P	0.48640	0.913	B	0.36666	0.23	T	0.52931	-0.8509	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:0.0:1.0:0.0	.	1941	O60469	DSCAM_HUMAN	M	1941;1675	ENSP00000383303:T1941M;ENSP00000385342:T1675M	ENSP00000383303:T1941M	T	-	2	0	DSCAM	40307048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.219000	0.95173	2.464000	0.83262	0.557000	0.71058	ACG		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		87	210	0	0	0	1	0	87	210					A	41385178	G	A	41385178	3	1	17	1	0	0	0	0	1	0	0	0	4784	1145	40	1	220	1	DSCAM	21	41385178	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	13990996	41385178	6744717	277	2144											
PCNT	5116	broad.mit.edu	37	chr21	47754463	47754463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcggtgaccacccaccAgaacagcgtgggatgttcac	11	13	1	2	rs527413251		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180	120	140					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G						PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	348	0	0	0	1	0	6	348					G	47754463	A	G	47754463	2	3	17	1	0	0	0	0	0	0	0	1	11632	175	7	4		4	PCNT	21	47754463	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	6369285	47754463	375432	278	2145											
CCDC116	164592	broad.mit.edu	37	chr22	21990963	21990963	+	Frame_Shift_Del	DEL	A	A	-													tccctgggcttaaagaaggtAaaaggctcccgcatccacct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:21990963delA	ENST00000292779.3	+	5	1607	c.1446delA	c.(1444-1446)gtafs	p.V482fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	482										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TAAAGAAGGTAAAAGGCTCCC	0.597																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1444-1446)gtfs		coiled-coil domain containing 116							78	70	73					22																	21990963		2203	4300	6503	SO:0001589	frameshift_variant	164592							g.chr22:21990963delA	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1446delA	22.37:g.21990963delA	ENSP00000292779:p.Val482fs						p.V482fs	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			5	1607	+	Colorectal(54;0.105)		482					Q8N9Y9	Frame_Shift_Del	DEL	ENST00000292779.3	37	c.1446delA	CCDS13791.1																																																																																				0.597	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		7	397						7	397	---	---	---	---	-	21990963	A	-	21990963	7	5	17	1	0	1	0	1	0	0	0	0	2760	349	13	0	1460	0	CCDC116	22	21990963	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08		21990963	29313603	279	2146											
IFT27	11020	broad.mit.edu	37	chr22	37163891	37163891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccagggcggtcttgCccactgctgggtctcctgtg	14	13	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:37163891C>T	ENST00000433985.2	-	2	470	c.50G>A	c.(49-51)gGc>gAc	p.G17D	IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000340630.5_Missense_Mutation_p.G16D	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	17					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)	p.G16D(1)		endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGGTCTTGCCCACTGCTGG	0.507																																						ENST00000340630.5																			1	Substitution - Missense(1)	p.G16D(1)	urinary_tract(1)	endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(46-48)gGc>gAc		intraflagellar transport 27 homolog (Chlamydomonas)							193	183	186					22																	37163891		2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163891C>T	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"Intraflagellar transport homologs", "RAB, member RAS oncogene"	18626	protein-coding gene	gene with protein product		615870	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.50G>A	22.37:g.37163891C>T	ENSP00000393541:p.Gly17Asp					IFT27_ENST00000433985.2_Missense_Mutation_p.G17D|IFT27_ENST00000453009.2_5'UTR	p.G16D	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	492	-			17					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.47G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648873	0.67358	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	4.5	4.5	0.54988	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.99379	4.54	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	0.96538	0.9398	10	0.87932	D	0	.	15.9962	0.80250	0.0:1.0:0.0:0.0	.	56;16;17;16	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	D	16;17;56;16	ENSP00000343593:G16D;ENSP00000393541:G17D;ENSP00000392016:G56D;ENSP00000390016:G16D	ENSP00000343593:G16D	G	-	2	0	IFT27	35493837	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.905000	0.69893	2.060000	0.61445	0.561000	0.74099	GGC		0.507	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		6	1098	0	0	0	1	0	6	1098					T	37163891	C	T	37163891	3	4	17	1	0	0	0	0	1	0	0	0	7589	739	26	2	534	2	IFT27	22	37163891	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	15172928	37163891	14140675	280	2147											
TRIOBP	11078	broad.mit.edu	37	chr22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgaggtcatcagccGgggtggccctcggaaggcgg	19	11	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(5788-5790)cGg>cAg		TRIO and F-actin binding protein							12	14	14					22																	38153721		2177	4278	6455	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38153721G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5789G>A	22.37:g.38153721G>A	ENSP00000384312:p.Arg1930Gln					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	p.R1930Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			16	6044	+	Melanoma(58;0.0574)		1930					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.5789G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561208	0.86335	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T	0.26957	1.7	5.5	5.5	0.81552	.	.	.	.	.	T	0.43055	0.1230	M	0.76574	2.34	0.31902	N	0.615782	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.53760	0.713;0.734;0.608	T	0.56505	-0.7968	9	0.66056	D	0.02	.	13.1341	0.59399	0.0828:0.0:0.9172:0.0	.	217;217;1930	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1930;217;217;176;146	ENSP00000384312:R1930Q	ENSP00000386026:R217Q	R	+	2	0	TRIOBP	36483667	0.999000	0.42202	0.997000	0.53966	0.785000	0.44390	3.643000	0.54374	2.580000	0.87095	0.555000	0.69702	CGG		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	13	0	0	0	1	0	11	13					A	38153721	G	A	38153721	3	1	17	1	0	0	0	0	1	0	0	0	16606	1116	39	1	6030	1	TRIOBP	22	38153721	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	989830	38153721	13150845	281	2148											
TRIOBP	11078	broad.mit.edu	37	chr22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgggcgcagcaacgagCggagttcctgcgagctagag	17	11	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6829-6831)Cgg>Tgg		TRIO and F-actin binding protein							14	17	16					22																	38165362		1982	4164	6146	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165362C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6829C>T	22.37:g.38165362C>T	ENSP00000384312:p.Arg2277Trp					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W|RP1-37E16.12_ENST00000455236.1_RNA	p.R2277W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			21	7084	+	Melanoma(58;0.0574)		2277					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6829C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193152	0.58017	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.23950	1.88	4.96	0.994	0.19832	.	.	.	.	.	T	0.44265	0.1285	L	0.53249	1.67	0.44711	D	0.997706	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.971;0.989;0.976	T	0.48305	-0.9047	9	0.87932	D	0	.	14.7584	0.69588	0.5226:0.4774:0.0:0.0	.	2179;266;564;2277	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	W	2277;564	ENSP00000384312:R2277W	ENSP00000386026:R564W	R	+	1	2	TRIOBP	36495308	1.000000	0.71417	0.989000	0.46669	0.459000	0.32528	0.925000	0.28791	0.428000	0.26173	0.462000	0.41574	CGG		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			9	53	0	0	0	1	0	9	53					T	38165362	C	T	38165362	3	4	17	1	0	0	0	0	1	0	0	0	16606	759	27	1	7205	1	TRIOBP	22	38165362	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	11641	38165362	13139204	282	2149											
SMCR7L	54471	broad.mit.edu	37	chr22	39910008	39910008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaccaggctgactcgGgctgccgatctctgtgcctc	12	15	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:39910008G>T	ENST00000325301.2	+	6	1496	c.1072G>T	c.(1072-1074)Ggc>Tgc	p.G358C	MIEF1_ENST00000404569.1_Missense_Mutation_p.G358C|MIEF1_ENST00000402881.1_Missense_Mutation_p.G358C	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	358					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGCTGACTCGGGCTGCCGATC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1072-1074)Ggc>Tgc									54	49	51					22																	39910008		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910008G>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1072G>T	22.37:g.39910008G>T	ENSP00000327124:p.Gly358Cys		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000404569.1_Missense_Mutation_p.G358C|SMCR7L_ENST00000402881.1_Missense_Mutation_p.G358C	p.G358C	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1496	+	Melanoma(58;0.04)		358					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1072G>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690911	0.88735	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.09350	2.99;2.99;2.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00752	-1.1581	10	0.33940	T	0.23	-36.8205	20.6439	0.99570	0.0:0.0:1.0:0.0	.	358;358	Q9NQG6;B0QY95	MID51_HUMAN;.	C	358	ENSP00000385110:G358C;ENSP00000327124:G358C;ENSP00000385191:G358C	ENSP00000327124:G358C	G	+	1	0	SMCR7L	38239954	1.000000	0.71417	0.981000	0.43875	0.894000	0.52154	9.849000	0.99510	2.884000	0.98904	0.655000	0.94253	GGC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		5	373	1	0	1	1	1	5	373					T	39910008	G	T	39910008	3	4	17	1	0	0	0	0	1	0	0	0	14841	1232	43	3	1086	3	SMCR7L	22	39910008	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	1744646	39910008	11394558	283	2150											
SMC1B	27127	broad.mit.edu	37	chr22	45782784	45782784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgagtgcaatatgccttGcttcttccatagtctcacaa	6	12	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:45782784G>T	ENST00000357450.4	-	11	1873	c.1874C>A	c.(1873-1875)gCa>gAa	p.A625E	SMC1B_ENST00000404354.3_Missense_Mutation_p.A625E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	625	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATATGCCTTGCTTCTTCCAT	0.383																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1873-1875)gCa>gAa		structural maintenance of chromosomes 1B							180	164	169					22																	45782784		1902	4134	6036	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45782784G>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1874C>A	22.37:g.45782784G>T	ENSP00000350036:p.Ala625Glu					SMC1B_ENST00000404354.3_Missense_Mutation_p.A625E	p.A625E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	11	1873	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	625			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1874C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013442	0.93346	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.95885	-3.84;-3.84	5.32	5.32	0.75619	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.53938	D	0.000052	D	0.98538	0.9512	H	0.95224	3.64	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	0.99647	1.0990	10	0.87932	D	0	.	18.9977	0.92819	0.0:0.0:1.0:0.0	.	625;625;625	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	E	625	ENSP00000350036:A625E;ENSP00000385902:A625E	ENSP00000350036:A625E	A	-	2	0	SMC1B	44161448	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.527000	0.98044	2.466000	0.83321	0.591000	0.81541	GCA		0.383	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	604	1	0	0.217242	1	0.233187	5	604					T	45782784	G	T	45782784	3	4	17	1	0	0	0	0	1	0	0	0	14832	1319	46	3	1893	3	SMC1B	22	45782784	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	5872776	45782784	5521782	284	2151											
PKDREJ	10343	broad.mit.edu	37	chr22	46654414	46654414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgacttgtcatagccGtaagtcagtccataaaatac	6	9	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4804-4806)taC>taT		polycystin (PKD) family receptor for egg jelly							97	91	93					22																	46654414		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654414G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4806C>T	22.37:g.46654414G>A							p.Y1602Y	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4805	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1602					B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.4806C>T	CCDS14073.1																																																																																				0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	458	0	0	0	1	0	5	458					A	46654414	G	A	46654414	2	1	17	1	0	0	0	0	0	0	0	1	12012	1140	40	1		1	PKDREJ	22	46654414	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	871630	46654414	4650152	285	2152											
PKDREJ	10343	broad.mit.edu	37	chr22	46658194	46658194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgttatgttggcatcGccaagcatcaccgcctgcag	10	12	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46658194G>A	ENST00000253255.5	-	1	1025	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	342	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTTGGCATCGCCAAGCATCA	0.572																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1024-1026)ggC>ggT		polycystin (PKD) family receptor for egg jelly							113	117	116					22																	46658194		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658194G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1026C>T	22.37:g.46658194G>A							p.G342G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1025	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	342			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1026C>T	CCDS14073.1																																																																																				0.572	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	1059	0	0	0	1	0	7	1059					A	46658194	G	A	46658194	2	1	17	1	0	0	0	0	0	0	0	1	12012	1074	38	1		1	PKDREJ	22	46658194	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3780	46658194	4646372	286	2153											
MOV10L1	54456	broad.mit.edu	37	chr22	50555746	50555746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacaagcgttaacatccGcaaaaactacagttgttgtg	8	9	1	0	rs201629078		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:50555746G>A	ENST00000262794.5	+	9	1503	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	MOV10L1_ENST00000540615.1_Missense_Mutation_p.A454T|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A474T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A474T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	474					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTAACATCCGCAAAAACTAC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19304	0.001		0.0	False		,,,				2504	0.0					ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1420-1422)Gca>Aca		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							56	53	54					22																	50555746		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50555746G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1420G>A	22.37:g.50555746G>A	ENSP00000262794:p.Ala474Thr					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A474T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A474T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A454T	p.A474T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	9	1503	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	474					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1420G>A	CCDS14084.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.004	0.555469	0.13436	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85411	-1.78;-1.78;-1.37;-1.98	5.76	-6.99	0.01605	.	0.581261	0.19774	N	0.106371	T	0.57272	0.2042	N	0.08118	0	0.20873	N	0.999839	B;B;B;B	0.10296	0.001;0.003;0.002;0.002	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.55964	-0.8057	10	0.13853	T	0.58	-3.8624	3.9809	0.09495	0.5401:0.1755:0.2043:0.0801	.	235;454;474;474	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	T	474;474;474;454	ENSP00000438978:A474T;ENSP00000262794:A474T;ENSP00000379199:A474T;ENSP00000438542:A454T	ENSP00000262794:A474T	A	+	1	0	MOV10L1	48897873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	-1.174000	0.02754	-2.178000	0.00318	GCA		0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		5	503	0	0	0	1	0	5	503					A	50555746	G	A	50555746	3	1	17	1	0	0	0	0	1	0	0	0	9760	1087	38	1	1495	1	MOV10L1	22	50555746	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3897552	50555746	748820	287	2154											
PPP2R3B	28227	broad.mit.edu	37	chrX	322222	322222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatcttgctgatgacgGcatccacgttgacggagtcc	11	12	2	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:322222G>A	ENST00000390665.3	-	2	446	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	143					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGATGACGGCATCCACGTT	0.632																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(427-429)gCc>gTc		protein phosphatase 2, regulatory subunit B'', beta							261	298	286					X																	322222		2180	4269	6449	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:322222G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.428C>T	X.37:g.322222G>A	ENSP00000375080:p.Ala143Val						p.A143V	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			2	446	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	143					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.428C>T	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090192	0.08632	.	.	ENSG00000167393	ENST00000390665;ENST00000381625	T;T	0.15139	2.45;2.45	1.62	1.62	0.23740	.	0.366225	0.24198	U	0.040653	T	0.11324	0.0276	L	0.38175	1.15	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.24297	-1.0164	10	0.27785	T	0.31	.	6.1622	0.20370	0.0:0.3177:0.6823:0.0	.	143	Q9Y5P8	P2R3B_HUMAN	V	143;115	ENSP00000375080:A143V;ENSP00000371038:A115V	ENSP00000371038:A115V	A	-	2	0	PPP2R3B	242222	0.975000	0.34042	0.007000	0.13788	0.275000	0.26752	1.276000	0.33156	0.579000	0.29504	0.115000	0.15696	GCC		0.632	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		6	326	0	0	0	1	0	6	326					A	322222	G	A	322222	3	1	17	1	0	0	0	0	1	0	0	0	12436	1203	42	2	1347	2	PPP2R3B	23	322222	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		322222	154948338	288	2155											
FAM123B	139285	broad.mit.edu	37	chrX	63409864	63409864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggctggaaggcccataGtgagtgggctgaggctgggg	19	7	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:63409864G>T	ENST00000330258.3	-	2	3575	c.3303C>A	c.(3301-3303)caC>caA	p.H1101Q	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1101	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AAGGCCCATAGTGAGTGGGCT	0.622																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3301-3303)caC>caA		APC membrane recruitment protein 1							13	14	13					X																	63409864		1968	4124	6092	SO:0001583	missense	139285							g.chrX:63409864G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3303C>A	X.37:g.63409864G>T	ENSP00000329117:p.His1101Gln					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.H1101Q	NM_152424.3	NP_689637.3					2	3575	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.3303C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109323	0.56398	.	.	ENSG00000184675	ENST00000330258	T	0.46063	0.88	4.81	2.92	0.33932	.	.	.	.	.	T	0.25827	0.0629	L	0.27053	0.805	0.80722	D	1	B	0.18461	0.028	B	0.16722	0.016	T	0.05178	-1.0901	8	.	.	.	-6.6314	7.144	0.25573	0.1019:0.1711:0.727:0.0	.	1101	Q5JTC6	F123B_HUMAN	Q	1101	ENSP00000329117:H1101Q	.	H	-	3	2	FAM123B	63326589	0.578000	0.26717	0.972000	0.41901	0.844000	0.47949	0.452000	0.21795	1.159000	0.42565	0.436000	0.28706	CAC		0.622	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	45	1	0	1	1	1	3	45					T	63409864	G	T	63409864	3	4	17	1	0	0	0	0	1	0	0	0	5444	1020	36	3	108	3	FAM123B	23	63409864	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	63087642	63409864	91860696	289	2156											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	282	0	0	0	1	0	6	282					C	73811938	G	C	73811938	2	2	17	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10402074	73811938	81458622	290	2157											
PCDH19	57526	broad.mit.edu	37	chrX	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-													ccaaggcgatcacgtagcccGggggggcgctctcgctgacc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																						ENST00000373034.4																			1	Deletion - Frameshift(1)	p.P364fs*4(1)	large_intestine(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1090-1092)cgfs		protocadherin 19							43	47	46					X																	99662505		2188	4265	6453	SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662505delG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs					PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2766	-			364			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.1091delC	CCDS55462.1																																																																																				0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	203						7	203	---	---	---	---	-	99662505	G	-	99662505	7	5	17	1	0	1	0	1	0	0	0	0	11556	1116	39	0	2379	0	PCDH19	23	99662505	Frame_Shift_Del	DEL	G	TCGA-2L-AAQA-01A-21D-A38G-08	25850567	99662505	55608055	291	2158											
FRMD7	90167	broad.mit.edu	37	chrX	131212553	131212553	+	Frame_Shift_Del	DEL	A	A	-													ctggggtggcttgtccacatAaaaaaagacctggggaggca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:131212553delA	ENST00000298542.4	-	12	1667	c.1492delT	c.(1492-1494)tatfs	p.Y498fs	FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGTCCACATAAAAAAAGACC	0.502																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1492-1494)atfs		FERM domain containing 7							114	109	110					X																	131212553		2203	4300	6503	SO:0001589	frameshift_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212553delA	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1492delT	X.37:g.131212553delA	ENSP00000298542:p.Tyr498fs					FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	p.Y498fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1667	-	Acute lymphoblastic leukemia(192;0.000127)		498					C0LLJ3|Q5JX99	Frame_Shift_Del	DEL	ENST00000298542.4	37	c.1492delT	CCDS35397.1																																																																																				0.502	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		7	524						7	524	---	---	---	---	-	131212553	A	-	131212553	7	5	17	1	0	1	0	1	0	0	0	0	6082	362	13	0	656	0	FRMD7	23	131212553	Frame_Shift_Del	DEL	A	TCGA-2L-AAQA-01A-21D-A38G-08	31550048	131212553	24058007	292	2159											
SLITRK4	139065	broad.mit.edu	37	chrX	142716991	142716991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtgggtttcttgttgCgtcgcaggacaaaaacaaga	11	8	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:142716991C>T	ENST00000381779.4	-	2	2159	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	645						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTGTTGCGTCGCAGGAC	0.458																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1933-1935)cGc>cAc		SLIT and NTRK-like family, member 4							99	99	99					X																	142716991		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716991C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1934G>A	X.37:g.142716991C>T	ENSP00000371198:p.Arg645His					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H	p.R645H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2159	-	Acute lymphoblastic leukemia(192;6.56e-05)		645					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1934G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337263	0.81911	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.68331	-0.32;-0.32;-0.32	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.80607	0.4655	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82880	-0.0238	10	0.87932	D	0	-5.7493	16.5642	0.84574	0.0:1.0:0.0:0.0	.	645	Q8IW52	SLIK4_HUMAN	H	645	ENSP00000371198:R645H;ENSP00000349400:R645H;ENSP00000336627:R645H	ENSP00000336627:R645H	R	-	2	0	SLITRK4	142544657	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	7.818000	0.86416	2.224000	0.72417	0.513000	0.50165	CGC		0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		8	320	0	0	0	1	0	8	320					T	142716991	C	T	142716991	3	4	17	1	0	0	0	0	1	0	0	0	14795	768	27	1	583	1	SLITRK4	23	142716991	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	11504438	142716991	12553569	293	2160											
RER1	11079	broad.mit.edu	37	chr1	2333651	2333651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccccacttgaaggcatgCggctaccaagggcatccttg	10	14	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:2333651C>T	ENST00000605895.1	+	6	504	c.371C>T	c.(370-372)gCg>gTg	p.A124V	RER1_ENST00000378518.1_Missense_Mutation_p.R91W|RER1_ENST00000488353.1_Missense_Mutation_p.A124V|RER1_ENST00000378513.3_Missense_Mutation_p.R91W|RER1_ENST00000378512.1_Missense_Mutation_p.R161W	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	124				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TGAAGGCATGCGGCTACCAAG	0.607																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(370-372)gCg>gTg		retention in endoplasmic reticulum sorting receptor 1							115	119	118					1																	2333651		2090	4222	6312	SO:0001583	missense	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2333651C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.371C>T	1.37:g.2333651C>T	ENSP00000475168:p.Ala124Val					RER1_ENST00000378512.1_Missense_Mutation_p.R161W|RER1_ENST00000378518.1_Missense_Mutation_p.R91W|RER1_ENST00000378513.3_Missense_Mutation_p.R91W|RER1_ENST00000488353.1_Missense_Mutation_p.A124V	p.A124V	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	6	504	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	124	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.371C>T	CCDS41232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706747|2.706747	0.48412|0.48412	.|.	.|.	ENSG00000157916|ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000443438|ENST00000378518;ENST00000378513;ENST00000378512	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.118734|.	0.64402|.	D|.	0.000015|.	T|T	0.55337|0.55337	0.1914|0.1914	M|M	0.68952|0.68952	2.095|2.095	0.30839|0.30839	N|N	0.735889|0.735889	B|D	0.28713|0.69078	0.22|0.997	B|P	0.41332|0.47299	0.354|0.543	T|T	0.64799|0.64799	-0.6322|-0.6322	9|8	0.87932|0.87932	D|D	0|0	.|.	16.9271|16.9271	0.86179|0.86179	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124|161	O15258|Q5T091	RER1_HUMAN|.	V|W	124|91;91;161	.|.	ENSP00000302088:A124V|ENSP00000367773:R161W	A|R	+|+	2|1	0|2	RER1|RER1	2323511|2323511	1.000000|1.000000	0.71417|0.71417	0.244000|0.244000	0.24202|0.24202	0.830000|0.830000	0.47004|0.47004	6.798000|6.798000	0.75155|0.75155	2.232000|2.232000	0.73038|0.73038	0.313000|0.313000	0.20887|0.20887	GCG|CGG		0.607	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			5	413	0	0	0	1	0	5	413					T	2333651	C	T	2333651	3	4	18	1	0	0	0	0	1	0	0	0	13280	768	27	1	389	1	RER1	1	2333651	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		2333651	246916970	1	2161											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)			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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	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	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	291						7	291	---	---	---	---	-	6680071	GAA	-	6680069	7	5	18	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-2L-AAQE-01A-11D-A397-08	4346418	6680069	242570552	2	2162											
KIF1B	23095	broad.mit.edu	37	chr1	10384048	10384048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacaggcctttccctcGcacagtggtagcagtagaag	13	10	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:10384048G>A	ENST00000377086.1	+	25	2667	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R776H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R822H			O60333	KIF1B_HUMAN	kinesin family member 1B	822					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTTCCCTCGCACAGTGGTA	0.443																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2464-2466)cGc>cAc		kinesin family member 1B							137	140	139					1																	10384048		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10384048G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2465G>A	1.37:g.10384048G>A	ENSP00000366290:p.Arg822His					KIF1B_ENST00000377081.1_Missense_Mutation_p.R822H|KIF1B_ENST00000263934.6_Missense_Mutation_p.R776H	p.R822H			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	25	2667	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	822					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2465G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.243265	0.95272	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.75477	-0.94;-0.94;-0.94	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.70935	0.932;0.925;0.964;0.925;0.971;0.912	D	0.84569	0.0654	10	0.56958	D	0.05	.	19.5085	0.95130	0.0:0.0:1.0:0.0	.	808;782;822;796;822;776	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	822;776;822;822	ENSP00000263934:R776H;ENSP00000366290:R822H;ENSP00000366284:R822H	ENSP00000263934:R776H	R	+	2	0	KIF1B	10306635	1.000000	0.71417	0.961000	0.40146	0.896000	0.52359	9.801000	0.99128	2.692000	0.91855	0.650000	0.86243	CGC		0.443	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	579	0	0	0	1	0	6	579					A	10384048	G	A	10384048	3	1	18	1	0	0	0	0	1	0	0	0	8314	1087	38	1	3902	1	KIF1B	1	10384048	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	3703979	10384048	238866573	3	2163											
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	13	11	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						ENST00000373016.3																			1	Substitution - Missense(1)	p.P143S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Tcc		four and a half LIM domains 3							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_ENST00000485803.1_5'UTR	p.P143S	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			4	595	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		8	597	0	0	0	1	0	8	597					A	38463709	G	A	38463709	3	1	18	1	0	0	0	0	1	0	0	0	5905	1203	42	2	427	2	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	28079661	38463709	210786912	4	2164											
FLG	2312	broad.mit.edu	37	chr1	152286796	152286796	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctaatctagtatttTcagtcttgtttttctctttt	4	8	5	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:152286796T>A	ENST00000368799.1	-	3	601	c.566A>T	c.(565-567)gAa>gTa	p.E189V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	189					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)			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)			TCTAGTATTTTCAGTCTTGTT	0.308									Ichthyosis																													ENST00000368799.1																			0				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						c.(565-567)gAa>gTa		filaggrin							86	91	89					1																	152286796		2202	4300	6502	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.chr1:152286796T>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.566A>T	1.37:g.152286796T>A	ENSP00000357789:p.Glu189Val					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E189V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	601	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		189					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.566A>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.391622	0.25118	.	.	ENSG00000143631	ENST00000368799	T	0.00801	5.68	3.68	-3.27	0.05048	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	P	0.53035	0.716	T	0.48502	-0.9030	9	0.29301	T	0.29	0.9076	4.776	0.13180	0.0:0.3342:0.3439:0.322	.	189	P20930	FILA_HUMAN	V	189	ENSP00000357789:E189V	ENSP00000357789:E189V	E	-	2	0	FLG	150553420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.049000	0.03514	-0.583000	0.05921	0.378000	0.23410	GAA		0.308	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	206	0	0	0	1	0	10	206					A	152286796	T	A	152286796	3	1	18	1	0	0	0	0	1	0	0	0	5947	1783	62	5	11623	5	FLG	1	152286796	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	113823087	152286796	96963825	5	2165											
PRG4	10216	broad.mit.edu	37	chr1	186276116	186276118	+	In_Frame_Del	DEL	CCA	CCA	-													caccaccaaggagcctgcacCcaccaccaccaagtctgcac					rs552983243	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:186276116_186276118delCCA	ENST00000445192.2	+	7	1310_1312	c.1265_1267delCCA	c.(1264-1269)cccacc>ccc	p.T425del	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.T384del|PRG4_ENST00000367486.3_In_Frame_Del_p.T382del|PRG4_ENST00000367485.4_In_Frame_Del_p.T332del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	425	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						GAGCCTGCACCCACCACCACCAA	0.665														3	0.000599042	0.0	0.0014	5008	,	,		9951	0.0		0.002	False		,,,				2504	0.0					ENST00000445192.2																			0				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						c.(1264-1269)ccc>c		proteoglycan 4			,,,	4,4262		0,4,2129					,,,	2	0			89	19,8225		0,19,4103	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	0,23,6232	A1A1,A1R,RR		0.2305,0.0938,0.1839	,,,	,,,		23,12487				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276116_186276118delCCA	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.1265_1267delCCA	1.37:g.186276125_186276127delCCA	ENSP00000399679:p.Thr425del					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT381del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT379del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT329del	p.PT422del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1310_1312	+			422			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1265_1267delCCA	CCDS1369.1																																																																																				0.665	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	444						7	444	---	---	---	---	-	186276118	CCA	-	186276116	7	5	18	1	0	1	0	1	0	0	0	0	12528	623	22	0	1287	0	PRG4	1	186276116	In_Frame_Del	DEL	CCA	TCGA-2L-AAQE-01A-11D-A397-08	33989320	186276116	62974505	6	2166											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132	118	122					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T							p.R647R	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		5	422	0	0	0	1	0	5	422					T	226037743	C	T	226037743	2	4	18	1	0	0	0	0	0	0	0	1	16242	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	39761627	226037743	23212878	7	2167											
OBSCN	84033	broad.mit.edu	37	chr1	228451984	228451984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcgaatggaggccGtgggctgcacacggaggctg	18	9	0	0	rs369298350		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:228451984G>A	ENST00000422127.1	+	16	4797	c.4753G>A	c.(4753-4755)Gtg>Atg	p.V1585M	OBSCN_ENST00000570156.2_Missense_Mutation_p.V1769M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585M|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1585	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AATGGAGGCCGTGGGCTGCAC	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5305-5307)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							55	61	59					1																	228451984		2117	4226	6343	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228451984G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4753G>A	1.37:g.228451984G>A	ENSP00000409493:p.Val1585Met					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1585M	p.V1769M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			18	5379	+		Prostate(94;0.0405)	757			Fibronectin type-III 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5305G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.689	1.151336	0.21371	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67523	-0.27;-0.27;-0.27	4.82	-9.64	0.00541	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.685180	0.02136	N	0.056724	T	0.57519	0.2059	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.59767	0.965;0.986	P;P	0.52881	0.712;0.462	T	0.65611	-0.6126	10	0.48119	T	0.1	.	3.3118	0.07020	0.2018:0.2166:0.4408:0.1408	.	1585;1585	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1585;1585;241	ENSP00000284548:V1585M;ENSP00000409493:V1585M;ENSP00000352613:V241M	ENSP00000284548:V1585M	V	+	1	0	OBSCN	226518607	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	-2.145000	0.00801	-0.218000	0.12543	GTG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	315	0	0	0	1	0	5	315					A	228451984	G	A	228451984	3	1	18	1	0	0	0	0	1	0	0	0	10854	1145	40	1	4811	1	OBSCN	1	228451984	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2414241	228451984	20798637	8	2168											
MOGS	7841	broad.mit.edu	37	chr2	74690035	74690035	+	Frame_Shift_Del	DEL	G	G	-													gcaagccgaggtagcgttcaGggggggcccctgggggccga					rs184209905	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:74690035delG	ENST00000233616.4	-	4	1043	c.881delC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTAGCGTTCAGGGGGGGCCCC	0.587																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(880-882)ctfs		mannosyl-oligosaccharide glucosidase							113	121	118					2																	74690035		1954	4148	6102	SO:0001589	frameshift_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690035delG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.881delC	2.37:g.74690035delG	ENSP00000233616:p.Pro294fs					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR	p.P294fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1043	-			294					A8K938|F5H6D0|Q17RN9|Q8TCT5	Frame_Shift_Del	DEL	ENST00000233616.4	37	c.881delC	CCDS42700.1																																																																																				0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		7	914						7	914	---	---	---	---	-	74690035	G	-	74690035	7	5	18	1	0	1	0	1	0	0	0	0	9738	1000	35	0	1636	0	MOGS	2	74690035	Frame_Shift_Del	DEL	G	TCGA-2L-AAQE-01A-11D-A397-08		74690035	168509338	9	2169											
AUP1	165545	broad.mit.edu	37	chr2	74754875	74754875	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatacctgactgggggcGcaatctggggtgtctttgtc	13	11	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				AUP1_ENST00000377526.3_Missense_Mutation_p.R277C|HTRA2_ENST00000352222.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(829-831)Cgc>Tgc		ancient ubiquitous protein 1							156	170	166					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered						p.R277C	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			8	1138	-			343					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.829C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		6	832	0	0	0	1	0	6	832					A	74754875	G	A	74754875	1	1	18	0	1	0	0	0	0	0	0	0	1221	1087	38	1		1	AUP1	2	74754875	5'Flank	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	64840	74754875	168444498	10	2170											
RGPD2	729857	broad.mit.edu	37	chr2	88125207	88125207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggcggagccctgcacCgaggcgaggtaccgctcccc	16	16	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:88125207C>T	ENST00000398146.3	-	1	264	c.42G>A	c.(40-42)tcG>tcA	p.S14S	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	14					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						AGCCCTGCACCGAGGCGAGGT	0.721																																						ENST00000398146.3																			0				breast(1)|pancreas(1)	2						c.(40-42)tcG>tcA		RANBP2-like and GRIP domain containing 2							19	33	29					2																	88125207		692	1590	2282	SO:0001819	synonymous_variant	729857				intracellular transport		binding	g.chr2:88125207C>T		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.42G>A	2.37:g.88125207C>T						RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR	p.S14S			Q68DN6	RGPD1_HUMAN			1	264	-			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	c.42G>A	CCDS42710.2																																																																																				0.721	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		14	40	0	0	0	1	0	14	40					T	88125207	C	T	88125207	2	4	18	1	0	0	0	0	0	0	0	1	13336	639	23	1		1	RGPD2	2	88125207	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	13370332	88125207	155074166	11	2171											
ITPR1	3708	broad.mit.edu	37	chr3	4735249	4735249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactctgatccagatgatgCggtcagaacgggatcggatg	14	8	2	5	rs61757109		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:4735249C>T	ENST00000443694.2	+	30	4060	c.4060C>T	c.(4060-4062)Cgg>Tgg	p.R1354W	ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1369W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1369					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1345W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCAGATGATGCGGTCAGAACG	0.517																																						ENST00000354582.6																			1	Substitution - Missense(1)	p.R1345W(1)	liver(1)	NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4105-4107)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 1							163	163	163					3																	4735249		2076	4229	6305	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4735249C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4060C>T	3.37:g.4735249C>T	ENSP00000401671:p.Arg1354Trp					ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1354W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W	p.R1369W			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	33	4455	+			1369					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4105C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762115	0.69763	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91740	-2.89;-2.9;-2.9;-2.9;-2.9;-2.89	5.18	1.83	0.25207	.	0.055041	0.64402	D	0.000001	D	0.95043	0.8395	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.65684	0.937;0.913	D	0.94311	0.7545	10	0.72032	D	0.01	.	13.9159	0.63897	0.4772:0.5228:0.0:0.0	.	1369;1360	Q14643;G5E9P1	ITPR1_HUMAN;.	W	1369;1354;1369;1360;1360;1345;1354	ENSP00000306253:R1354W;ENSP00000346595:R1369W;ENSP00000405934:R1360W;ENSP00000349597:R1360W;ENSP00000397885:R1345W;ENSP00000401671:R1354W	ENSP00000306253:R1354W	R	+	1	2	ITPR1	4710249	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.000000	0.29770	0.089000	0.17243	0.591000	0.81541	CGG		0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		5	643	0	0	0	1	0	5	643					T	4735249	C	T	4735249	3	4	18	1	0	0	0	0	1	0	0	0	7950	759	27	1	4227	1	ITPR1	3	4735249	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		4735249	193287181	12	2172											
TBC1D5	9779	broad.mit.edu	37	chr3	17300085	17300086	+	Splice_Site	INS	-	-	A													cactggtcttggatttctctINSaaaaaaaaatacatttttaa					rs566419471|rs546735695	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:17300085_17300086insA	ENST00000253692.7	-	16	2910		c.e16-2		TBC1D5_ENST00000429924.2_Splice_Site|TBC1D5_ENST00000414318.2_Splice_Site|TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5							retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGGATTTCTCTAAAAAAAAATA	0.312																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.e16-2		TBC1 domain family, member 5			,,	14,4238		0,14,2112					,,	5.8	1			71	14,8238		0,14,4112	no	splice-3,splice-3,splice-3	TBC1D5	NM_014744.2,NM_001134381.1,NM_001134380.1	,,	0,28,6224	A1A1,A1R,RR		0.1697,0.3293,0.2239	,,	,,		28,12476				SO:0001630	splice_region_variant	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17300085_17300086insA	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1246-2->T	3.37:g.17300094_17300094dupA						TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000429924.2_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site|TBC1D5_ENST00000414318.2_Splice_Site		NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			16	2910	-								A6NP25|C9JP52	Splice_Site	INS	ENST00000253692.7	37		CCDS33714.1																																																																																				0.312	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	Intron	8	362						8	362	---	---	---	---	A	17300086	-	A	17300085	8	5	18	1	0	1	1	0	0	0	1	0	15675	1536	53	0	1241	0	TBC1D5	3	17300085	Splice_Site	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	12564836	17300085	180722345	13	2173											
IMPDH2	25915	broad.mit.edu	37	chr3	49062645	49062645	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggaacaccaaagcgcCgtgcatactctgacaccttg	9	14	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:49062645C>T	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R355Q	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						ACCAAAGCGCCGTGCATACTC	0.562																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1063-1065)cGg>cAg		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						108	111	110					3																	49062645		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062645C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062645C>T							p.R355Q	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1103	-			355						Missense_Mutation	SNP	ENST00000326925.6	37	c.1064G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898295	0.72639	.	.	ENSG00000178035	ENST00000326739	T	0.78707	-1.2	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.72353	2.195	0.80722	D	1	P	0.40638	0.725	B	0.40375	0.327	T	0.79470	-0.1790	9	.	.	.	-12.6352	19.0076	0.92857	0.0:1.0:0.0:0.0	.	355	P12268	IMDH2_HUMAN	Q	355	ENSP00000321584:R355Q	.	R	-	2	0	IMPDH2	49037649	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	7.121000	0.77160	2.489000	0.83994	0.655000	0.94253	CGG		0.562	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		147	414	0	0	0	1	0	147	414					T	49062645	C	T	49062645	1	4	18	0	1	0	0	0	0	0	0	0	7757	652	23	1		1	IMPDH2	3	49062645	IGR	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	31762560	49062645	148959785	14	2174											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	278						9	278	---	---	---	---	-	49094316	TGC	-	49094314	7	5	18	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-2L-AAQE-01A-11D-A397-08	31669	49094314	148928116	15	2175											
SR140	23350	broad.mit.edu	37	chr3	142741710	142741710	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtaggaaaaatgattatgtCttttgaaatgaagttaggtt	10	1	1	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:142741710C>T	ENST00000473835.2	+	12	1124	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S344F	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	345	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGATTATGTCTTTTGAAATG	0.353																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1033-1035)tCt>tTt		U2 snRNP-associated SURP domain containing							52	47	49					3																	142741710		1856	4088	5944	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741710C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1034C>T	3.37:g.142741710C>T	ENSP00000418563:p.Ser345Phe					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S344F	p.S345F	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			12	1124	+			345			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1034C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120347	0.77323	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.75154	-0.91;-0.91	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.094876	0.64402	D	0.000001	D	0.82531	0.5057	M	0.62209	1.925	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.971	P;P;P	0.60541	0.852;0.717;0.876	D	0.83658	0.0159	10	0.72032	D	0.01	-14.6787	14.8298	0.70139	0.1439:0.8561:0.0:0.0	.	345;344;345	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	F	345;345;344	ENSP00000418563:S345F;ENSP00000422011:S344F	ENSP00000322376:S345F	S	+	2	0	U2SURP	144224400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.531000	0.60602	2.736000	0.93811	0.561000	0.74099	TCT		0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		17	53	0	0	0	1	0	17	53					T	142741710	C	T	142741710	3	4	18	1	0	0	0	0	1	0	0	0	15183	913	32	2	1080	2	SR140	3	142741710	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	93647396	142741710	55280720	16	2176											
TNK2	10188	broad.mit.edu	37	chr3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G													ccacgtcgtcataggcgggcINSggggggggcagcgggcgtgc					rs541695993	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		7	356						7	356	---	---	---	---	G	195595229	-	G	195595228	7	5	18	1	0	1	1	0	0	0	0	0	16370	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	52853518	195595228	2427202	17	2177											
NCBP2	22916	broad.mit.edu	37	chr3	196664485	196664485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgtcccatttatgtaccGcatggcgttttccgcatctg	9	13	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:196664485G>A	ENST00000321256.5	-	3	388	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000447325.1_Missense_Mutation_p.R29W|NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	99	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)	p.R99W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTATGTACCGCATGGCGTTT	0.488																																						ENST00000447325.1																			1	Substitution - Missense(1)	p.R99W(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(85-87)Cgg>Tgg		nuclear cap binding protein subunit 2, 20kDa							115	105	108					3																	196664485		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196664485G>A	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"RNA binding motif (RRM) containing"	7659	protein-coding gene	gene with protein product		605133	"nuclear cap binding protein subunit 2, 20kD"			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.295C>T	3.37:g.196664485G>A	ENSP00000326806:p.Arg99Trp					NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000321256.5_Missense_Mutation_p.R99W|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W	p.R29W			P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	3	434	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		99					B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.85C>T	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462954	0.63513	.	.	ENSG00000114503	ENST00000447325;ENST00000321256;ENST00000427641;ENST00000452404;ENST00000422610;ENST00000411704	T;T;T;T;T;T	0.75260	-0.92;2.27;-0.92;2.27;-0.92;-0.92	4.96	2.05	0.26809	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.057701	0.64402	D	0.000003	D	0.85248	0.5653	M	0.82823	2.61	0.80722	D	1	P;D;P	0.89917	0.716;1.0;0.844	B;D;B	0.80764	0.138;0.994;0.217	D	0.84961	0.0877	10	0.48119	T	0.1	.	13.3628	0.60665	0.0:0.0:0.4238:0.5762	.	81;46;99	P52298-2;E9PAR5;P52298	.;.;NCBP2_HUMAN	W	29;99;46;81;29;29	ENSP00000413518:R29W;ENSP00000326806:R99W;ENSP00000397619:R46W;ENSP00000412785:R81W;ENSP00000394105:R29W;ENSP00000389315:R29W	ENSP00000326806:R99W	R	-	1	2	NCBP2	198148882	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.449000	0.21744	0.323000	0.23307	-0.182000	0.12963	CGG		0.488	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		5	493	0	0	0	1	0	5	493					A	196664485	G	A	196664485	3	1	18	1	0	0	0	0	1	0	0	0	10254	1086	38	1	183	1	NCBP2	3	196664485	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1069257	196664485	1357945	18	2178											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		7	779						7	779	---	---	---	---	-	946207	TG	-	946206	7	5	18	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-2L-AAQE-01A-11D-A397-08		946206	190208070	19	2179											
FBXL5	26234	broad.mit.edu	37	chr4	15628553	15628553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccagatgctccaggttaGgacaaagctctaaaatctgc	9	10	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr4:15628553G>T	ENST00000341285.3	-	8	1191	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H	FBXL5_ENST00000382358.4_Missense_Mutation_p.P230H|FBXL5_ENST00000412094.2_Missense_Mutation_p.P339H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	356					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCCAGGTTAGGACAAAGCTC	0.328																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1066-1068)cCt>cAt		F-box and leucine-rich repeat protein 5							51	49	50					4																	15628553		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15628553G>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1067C>A	4.37:g.15628553G>T	ENSP00000344866:p.Pro356His					FBXL5_ENST00000382358.4_Missense_Mutation_p.P230H|FBXL5_ENST00000412094.2_Missense_Mutation_p.P339H	p.P356H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			8	1191	-			356					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1067C>A	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966766	0.92855	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.19669	2.13;2.13;2.13	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43718	-0.9374	10	0.87932	D	0	-27.9909	20.0624	0.97681	0.0:0.0:1.0:0.0	.	339;356	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	H	356;339;230	ENSP00000344866:P356H;ENSP00000408679:P339H;ENSP00000371795:P230H	ENSP00000344866:P356H	P	-	2	0	FBXL5	15237651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.230000	0.95299	2.838000	0.97847	0.591000	0.81541	CCT		0.328	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			5	224	1	0	3.59834e-05	1	3.72242e-05	5	224					T	15628553	G	T	15628553	3	4	18	1	0	0	0	0	1	0	0	0	5747	1000	35	3	1024	3	FBXL5	4	15628553	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	14682347	15628553	175525723	20	2180											
WDFY3	23001	broad.mit.edu	37	chr4	85741302	85741302	+	Frame_Shift_Del	DEL	T	T	-													ataaccaataaagccaggtgTttttggtcttcaactgaact							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr4:85741302delT	ENST00000295888.4	-	12	2036	c.1629delA	c.(1627-1629)aaafs	p.K543fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.K543fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	543					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGCCAGGTGTTTTTGGTCTT	0.353																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1627-1629)aafs		WD repeat and FYVE domain containing 3							182	195	190					4																	85741302		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741302delT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1629delA	4.37:g.85741302delT	ENSP00000295888:p.Lys543fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.K543fs	p.K543fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2036	-		Hepatocellular(203;0.114)	543					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.1629delA	CCDS3609.1																																																																																				0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	1028						7	1028	---	---	---	---	-	85741302	T	-	85741302	7	5	18	1	0	1	0	1	0	0	0	0	17324	1722	60	0	9222	0	WDFY3	4	85741302	Frame_Shift_Del	DEL	T	TCGA-2L-AAQE-01A-11D-A397-08	70112749	85741302	105412974	21	2181											
UGT3A2	167127	broad.mit.edu	37	chr5	36049023	36049023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaataggtttttccatcaAgcctccaacataaacagtgt	5	9	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:36049023A>T	ENST00000282507.3	-	4	912	c.811T>A	c.(811-813)Ttg>Atg	p.L271M	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L237M|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	271					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCCATCAAGCCTCCAACA	0.453																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(811-813)Ttg>Atg		UDP glycosyltransferase 3 family, polypeptide A2							118	114	115					5																	36049023		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049023A>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.811T>A	5.37:g.36049023A>T	ENSP00000282507:p.Leu271Met					UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L237M|UGT3A2_ENST00000545528.1_Intron	p.L271M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	912	-	all_lung(31;0.000179)		271					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.811T>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044979	0.55110	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.63580	-0.05;-0.05	3.45	0.914	0.19360	.	0.107344	0.38492	N	0.001677	T	0.67050	0.2852	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.64398	-0.6417	10	0.72032	D	0.01	.	1.5646	0.02602	0.5509:0.1761:0.1021:0.171	.	237;271	E9PFK7;Q3SY77	.;UD3A2_HUMAN	M	271;237	ENSP00000282507:L271M;ENSP00000427404:L237M	ENSP00000282507:L271M	L	-	1	2	UGT3A2	36084780	0.139000	0.22563	0.911000	0.35937	0.961000	0.63080	0.431000	0.21444	0.186000	0.20125	0.533000	0.62120	TTG		0.453	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		40	274	0	0	0	1	0	40	274					T	36049023	A	T	36049023	3	4	18	1	0	0	0	0	1	0	0	0	17018	69	3	5	776	5	UGT3A2	5	36049023	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		36049023	144866237	22	2182											
VDAC1	7416	broad.mit.edu	37	chr5	133316519	133316519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaattcatctggtagccgGccagccagccctcgtaacct	8	15	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:133316519G>A	ENST00000265333.3	-	6	696	c.452C>T	c.(451-453)gCc>gTc	p.A151V	VDAC1_ENST00000395047.2_Missense_Mutation_p.A151V|VDAC1_ENST00000395044.3_Missense_Mutation_p.A151V	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	151					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTGGTAGCCGGCCAGCCAGCC	0.527																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(451-453)gCc>gTc		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						52	55	54					5																	133316519		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316519G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.452C>T	5.37:g.133316519G>A	ENSP00000265333:p.Ala151Val					VDAC1_ENST00000395044.3_Missense_Mutation_p.A151V|VDAC1_ENST00000395047.2_Missense_Mutation_p.A151V	p.A151V	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	696	-			151					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.452C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499741	0.96355	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.52573	1.65	0.80722	D	1	P	0.48089	0.905	P	0.51079	0.658	T	0.49476	-0.8936	10	0.48119	T	0.1	.	19.2582	0.93955	0.0:0.0:1.0:0.0	.	151	P21796	VDAC1_HUMAN	V	151	ENSP00000265333:A151V;ENSP00000378484:A151V;ENSP00000378487:A151V;ENSP00000390129:A151V	ENSP00000265333:A151V	A	-	2	0	VDAC1	133344418	1.000000	0.71417	0.978000	0.43139	0.973000	0.67179	7.885000	0.87282	2.622000	0.88805	0.655000	0.94253	GCC		0.527	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			5	324	0	0	0	1	0	5	324					A	133316519	G	A	133316519	3	1	18	1	0	0	0	0	1	0	0	0	17200	1203	42	2	415	2	VDAC1	5	133316519	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	97267496	133316519	47598741	23	2183											
SPOCK1	6695	broad.mit.edu	37	chr5	136315143	136315143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagccctcctcattacacCgaggtatgaaggcccctggg	10	13	1	1	rs535025555		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:136315143C>T	ENST00000394945.1	-	10	1176	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R336Q|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	336	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCATTACACCGAGGTATGAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20929	0.0		0.0	False		,,,				2504	0.001					ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(1006-1008)cGg>cAg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							91	84	87					5																	136315143		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136315143C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1007G>A	5.37:g.136315143C>T	ENSP00000378401:p.Arg336Gln					SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.R336Q	p.R336Q	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1176	-			336			Thyroglobulin type-1.		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.1007G>A	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743313	0.49151	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.61040	0.14;0.14	4.95	4.95	0.65309	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.02334	-0.595	0.51767	D	0.999933	D	0.89917	1.0	D	0.85130	0.997	T	0.51639	-0.8680	10	0.16896	T	0.51	.	12.3181	0.54969	0.169:0.831:0.0:0.0	.	336	Q08629	TICN1_HUMAN	Q	336	ENSP00000378401:R336Q;ENSP00000282223:R336Q	ENSP00000282223:R336Q	R	-	2	0	SPOCK1	136343042	0.998000	0.40836	0.996000	0.52242	0.927000	0.56198	3.885000	0.56182	2.277000	0.76020	0.650000	0.86243	CGG		0.542	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		64	192	0	0	0	1	0	64	192					T	136315143	C	T	136315143	3	4	18	1	0	0	0	0	1	0	0	0	15131	652	23	1	320	1	SPOCK1	5	136315143	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2998624	136315143	44600117	24	2184											
PCDHA7	56141	broad.mit.edu	37	chr5	140216036	140216036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgttgggcattgcaggcccaGagaccgagctggtggatgtc	16	10	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:140216036G>A	ENST00000525929.1	+	1	2068	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E690K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	690					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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGCCCAGAGACCGAGCT	0.637																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2068-2070)Gag>Aag									111	98	102					5																	140216036		2203	4299	6502	SO:0001583	missense	0							g.chr5:140216036G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2068G>A	5.37:g.140216036G>A	ENSP00000436426:p.Glu690Lys					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E690K|PCDHA1_ENST00000394633.3_Intron	p.E690K	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2068	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2068G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.222045	0.22457	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.52754	0.65;0.66	3.57	1.55	0.23275	.	3.216130	0.05786	U	0.609423	T	0.50188	0.1601	M	0.82132	2.575	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.005	T	0.41822	-0.9487	10	0.33940	T	0.23	.	7.687	0.28546	0.0:0.2711:0.5139:0.215	.	690;690	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	690	ENSP00000436426:E690K;ENSP00000367365:E690K	ENSP00000367365:E690K	E	+	1	0	PCDHA7	140196220	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.072000	0.14617	0.812000	0.34326	-0.467000	0.05162	GAG		0.637	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		53	415	0	0	0	1	0	53	415					A	140216036	G	A	140216036	3	1	18	1	0	0	0	0	1	0	0	0	11571	943	33	2	2070	2	PCDHA7	5	140216036	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	3900893	140216036	40699224	25	2185											
POU4F3	5459	broad.mit.edu	37	chr5	145719822	145719822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgaacggaagcgcaaaCgcacgtccatcgcggcgccg	14	15	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:145719822C>T	ENST00000230732.4	+	2	921	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCGCAAACGCACGTCCAT	0.612																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(832-834)Cgc>Tgc		POU class 4 homeobox 3							54	53	53					5																	145719822		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719822C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.832C>T	5.37:g.145719822C>T	ENSP00000230732:p.Arg278Cys					CTC-359M8.1_ENST00000515598.1_RNA	p.R278C	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	921	+			278					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.832C>T	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004800	0.74932	.	.	ENSG00000091010	ENST00000230732	D	0.99186	-5.53	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97244	0.9893	10	0.87932	D	0	.	16.3979	0.83621	0.0:1.0:0.0:0.0	.	278	Q15319	PO4F3_HUMAN	C	278	ENSP00000230732:R278C	ENSP00000230732:R278C	R	+	1	0	POU4F3	145700015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.372000	0.80975	0.462000	0.41574	CGC		0.612	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		56	218	0	0	0	1	0	56	218					T	145719822	C	T	145719822	3	4	18	1	0	0	0	0	1	0	0	0	12322	536	19	1	838	1	POU4F3	5	145719822	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	5503786	145719822	35195438	26	2186											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	571						8	571	---	---	---	---	A	31939830	-	A	31939829	7	5	18	1	0	1	1	0	0	0	0	0	15344	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-2L-AAQE-01A-11D-A397-08		31939829	139175238	27	2187											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	4	13	3	0	rs201790829		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(205-207)Cga>Tga		BCL2-associated transcription factor 1																																				SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599814G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.205C>T	6.37:g.136599814G>A	ENSP00000435210:p.Arg69*					BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*	p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	457	-	Colorectal(23;0.24)		69					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.205C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201669	0.79015	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	3.59	0.41128	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5909	16.2474	0.82450	0.0:0.0:0.7701:0.2299	.	.	.	.	X	69;67;69;69;67;67;69	.	ENSP00000229446:R67X	R	-	1	2	BCLAF1	136641507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.151000	0.58105	1.318000	0.45170	0.557000	0.71058	CGA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		19	298	0	0	0	1	0	19	298					A	136599814	G	A	136599814	4	1	18	1	0	0	0	0	0	1	0	0	1384	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	104659985	136599814	34515253	28	2188											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-													tatcatggcttacggatcccTttttcacttgccccctgcca							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000531675.1_5'Flank			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)agfs		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001589	frameshift_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690delT		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422delA	6.37:g.139266690delT	ENSP00000392065:p.Lys141fs					REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs	p.K141fs			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	37	c.422delA																																																																																					0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			7	926						7	926	---	---	---	---	-	139266690	T	-	139266690	7	5	18	1	0	1	0	1	0	0	0	0	13278	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-2L-AAQE-01A-11D-A397-08	2666876	139266690	31848377	29	2189											
STAG3	10734	broad.mit.edu	37	chr7	99780445	99780445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgctgtgaaagccGccaaaagtgacatgcaggta	10	8	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr7:99780445G>A	ENST00000426455.1	+	4	726	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	107					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAAGCCGCCAAAAGTGA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(319-321)Gcc>Acc		stromal antigen 3							242	238	239					7																	99780445		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780445G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.319G>A	7.37:g.99780445G>A	ENSP00000400359:p.Ala107Thr					STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	p.A107T			Q9UJ98	STAG3_HUMAN			4	726	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		107					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.319G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112214	0.77210	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.28069	1.93;1.63;1.93	5.32	5.32	0.75619	.	0.000000	0.43919	D	0.000512	T	0.52869	0.1761	M	0.68952	2.095	0.42720	D	0.993672	D;B	0.89917	1.0;0.32	D;B	0.64506	0.926;0.056	T	0.54860	-0.8230	10	0.87932	D	0	-15.4632	16.5495	0.84470	0.0:0.0:1.0:0.0	.	107;107	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	107	ENSP00000400359:A107T;ENSP00000377586:A107T;ENSP00000319318:A107T	ENSP00000319318:A107T	A	+	1	0	STAG3	99618381	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.209000	0.72171	2.773000	0.95371	0.585000	0.79938	GCC		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		9	1163	0	0	0	1	0	9	1163					A	99780445	G	A	99780445	3	1	18	1	0	0	0	0	1	0	0	0	15296	1087	38	1	329	1	STAG3	7	99780445	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		99780445	59358218	30	2190											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	200	0	0	0	1	0	6	200					G	114269973	A	G	114269973	2	3	18	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08	14489528	114269973	44868690	31	2191											
ANK1	286	broad.mit.edu	37	chr8	41572577	41572577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtacttggccgccacgtgcaGaggggtaaatcctttctgag	13	10	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:41572577G>A	ENST00000347528.4	-	15	1701	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	ANK1_ENST00000265709.8_Silent_p.L573L|ANK1_ENST00000352337.4_Silent_p.L540L|ANK1_ENST00000396945.1_Silent_p.L540L|ANK1_ENST00000379758.2_Silent_p.L540L|ANK1_ENST00000396942.1_Silent_p.L540L|ANK1_ENST00000289734.7_Silent_p.L540L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	540	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCACGTGCAGAGGGGTAAAT	0.622																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1618-1620)Ctg>Ttg		ankyrin 1, erythrocytic							62	64	63					8																	41572577		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572577G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1618C>T	8.37:g.41572577G>A						ANK1_ENST00000347528.4_Silent_p.L540L|ANK1_ENST00000265709.8_Silent_p.L573L|ANK1_ENST00000289734.7_Silent_p.L540L|ANK1_ENST00000396945.1_Silent_p.L540L|ANK1_ENST00000352337.4_Silent_p.L540L|ANK1_ENST00000379758.2_Silent_p.L540L	p.L540L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1701	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	540			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1618C>T	CCDS6119.1																																																																																				0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		191	179	0	0	0	1	0	191	179					A	41572577	G	A	41572577	2	1	18	1	0	0	0	0	0	0	0	1	620	933	33	2		2	ANK1	8	41572577	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		41572577	104791445	32	2192											
ABRA	137735	broad.mit.edu	37	chr8	107782214	107782214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttctggtgtgaagtagGgggtgtgattggtttaggag	18	2	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:107782214G>A	ENST00000311955.3	-	1	259	c.205C>T	c.(205-207)Cct>Tct	p.P69S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTGAAGTAGGGGGTGTGATT	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(205-207)Cct>Tct		actin-binding Rho activating protein							103	102	102					8																	107782214		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782214G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.205C>T	8.37:g.107782214G>A	ENSP00000311436:p.Pro69Ser						p.P69S	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	259	-			69						Missense_Mutation	SNP	ENST00000311955.3	37	c.205C>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	3.421	-0.118071	0.06838	.	.	ENSG00000174429	ENST00000311955	D	0.92446	-3.04	5.07	0.834	0.18880	.	0.373311	0.30020	N	0.010608	D	0.82926	0.5143	N	0.25647	0.755	0.09310	N	1	B	0.26809	0.16	B	0.24701	0.055	T	0.66452	-0.5920	10	0.10902	T	0.67	.	10.6755	0.45783	0.0:0.3894:0.4775:0.1331	.	69	Q8N0Z2	ABRA_HUMAN	S	69	ENSP00000311436:P69S	ENSP00000311436:P69S	P	-	1	0	ABRA	107851390	0.103000	0.21917	0.000000	0.03702	0.001000	0.01503	0.268000	0.18571	0.341000	0.23771	0.655000	0.94253	CCT		0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		61	499	0	0	0	1	0	61	499					A	107782214	G	A	107782214	3	1	18	1	0	0	0	0	1	0	0	0	100	1232	43	2	948	2	ABRA	8	107782214	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	66209637	107782214	38581808	33	2193											
COL22A1	169044	broad.mit.edu	37	chr8	139820045	139820045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccatggggccagcaactCccatttcaccctaaaagaag	8	15	1	1	rs267601793		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:139820045C>T	ENST00000303045.6	-	10	1906	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	487	Collagen-like 1.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			GCCAGCAACTCCCATTTCACC	0.443										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(1459-1461)gGa>gAa		collagen, type XXII, alpha 1							112	116	115					8																	139820045		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139820045C>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.1460G>A	8.37:g.139820045C>T	ENSP00000303153:p.Gly487Glu	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		10	1906	-	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)		487			Collagen-like 1.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1460G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636991	0.47049	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.94184	-3.37;-3.37	4.61	4.61	0.57282	.	0.000000	0.46758	U	0.000262	D	0.96537	0.8870	H	0.96833	3.89	0.38814	D	0.955498	D	0.60160	0.987	P	0.50352	0.638	D	0.98256	1.0496	9	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	487	Q8NFW1	COMA1_HUMAN	E	487	ENSP00000303153:G487E;ENSP00000387655:G487E	.	G	-	2	0	COL22A1	139889227	0.715000	0.27946	0.317000	0.25265	0.125000	0.20455	3.700000	0.54786	2.520000	0.84964	0.644000	0.83932	GGA		0.443	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		50	672	0	0	0	1	0	50	672					T	139820045	C	T	139820045	3	4	18	1	0	0	0	0	1	0	0	0	3690	855	30	2	3644	2	COL22A1	8	139820045	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	32037831	139820045	6543977	34	2194											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y	p.A97V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		14	44	0	0	0	1	0	14	44					A	21971111	G	A	21971111	3	1	18	1	0	0	0	0	1	0	0	0	3170	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		21971111	119242320	35	2195											
ZNF189	7743	broad.mit.edu	37	chr9	104170526	104170526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaaagggttttgtccGcaaggcccatttcattcaac	10	9	2	0	rs146668775		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:104170526G>A	ENST00000339664.2	+	3	605	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ZNF189_ENST00000374861.3_Missense_Mutation_p.R145H|ZNF189_ENST00000259395.4_Missense_Mutation_p.R117H	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	159					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTTTTGTCCGCAAGGCCCAT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		21919	0.001		0.0	False		,,,				2504	0.0					ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(433-435)cGc>cAc		zinc finger protein 189		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	73	71	72		476,350	4.7	1	9	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ZNF189	NM_003452.2,NM_197977.1	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	159/627,117/585	104170526	2,13004	2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170526G>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.476G>A	9.37:g.104170526G>A	ENSP00000342019:p.Arg159His					ZNF189_ENST00000259395.4_Missense_Mutation_p.R117H|ZNF189_ENST00000339664.2_Missense_Mutation_p.R159H	p.R145H	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	718	+		Acute lymphoblastic leukemia(62;0.0559)	159					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.434G>A	CCDS6754.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.003	-0.205670	0.06180	0.0	2.33E-4	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.15718	2.4;2.4;2.4	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000138	T	0.10809	0.0264	L	0.28776	0.89	0.32692	N	0.513987	B;B;B	0.26902	0.033;0.163;0.163	B;B;B	0.15870	0.003;0.014;0.003	T	0.09250	-1.0683	10	0.16896	T	0.51	.	10.5539	0.45105	0.0:0.0:0.8078:0.1922	.	144;145;159	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	H	145;159;117	ENSP00000363995:R145H;ENSP00000342019:R159H;ENSP00000259395:R117H	ENSP00000259395:R117H	R	+	2	0	ZNF189	103210347	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.052000	0.14163	2.873000	0.98535	0.563000	0.77884	CGC		0.383	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		5	277	0	0	0	1	0	5	277					A	104170526	G	A	104170526	3	1	18	1	0	0	0	0	1	0	0	0	17807	1087	38	1	486	1	ZNF189	9	104170526	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	82199415	104170526	37042905	36	2196											
SMC2	10592	broad.mit.edu	37	chr9	106864325	106864325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattgcttatcagtttttgCtggctgaagataccaaagta	8	6	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000303219.8_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(721-723)Ctg>Ttg		structural maintenance of chromosomes 2							93	103	100					9																	106864325		2203	4297	6500	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864325C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.721C>T	9.37:g.106864325C>T						SMC2_ENST00000303219.8_Silent_p.L241L|SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L	p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			8	1009	+			241					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.721C>T	CCDS35086.1																																																																																				0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			6	427	0	0	0	1	0	6	427					T	106864325	C	T	106864325	2	4	18	1	0	0	0	0	0	0	0	1	14833	796	28	2		2	SMC2	9	106864325	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2693799	106864325	34349106	37	2197											
GTF3C5	9328	broad.mit.edu	37	chr9	135917536	135917536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggacccatactgccaCccagtgtgcgccaaccgctt	8	18	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:135917536C>T	ENST00000372097.5	+	2	539	c.216C>T	c.(214-216)caC>caT	p.H72H	GTF3C5_ENST00000372099.6_Silent_p.H63H|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000342018.8_Silent_p.H72H|GTF3C5_ENST00000372108.5_Silent_p.H72H|GTF3C5_ENST00000485692.1_Intron	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	72					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATACTGCCACCCAGTGTGCG	0.612																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(214-216)caC>caT		general transcription factor IIIC, polypeptide 5, 63kDa							73	72	72					9																	135917536		2203	4300	6503	SO:0001819	synonymous_variant	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135917536C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.216C>T	9.37:g.135917536C>T						GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372099.6_Silent_p.H63H|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Silent_p.H72H|GTF3C5_ENST00000342018.8_Silent_p.H72H	p.H72H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	2	539	+			72					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	c.216C>T	CCDS6958.1																																																																																				0.612	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		50	287	0	0	0	1	0	50	287					T	135917536	C	T	135917536	2	4	18	1	0	0	0	0	0	0	0	1	6906	506	18	2		2	GTF3C5	9	135917536	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	29053211	135917536	5295895	38	2198											
C10orf18	54906	broad.mit.edu	37	chr10	5789782	5789782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccagtggggcaagataaCtttacccaggtacaacaaat	8	10	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:5789782C>A	ENST00000328090.5	+	15	5023	c.4398C>A	c.(4396-4398)aaC>aaA	p.N1466K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1466																	GGCAAGATAACTTTACCCAGG	0.423																																						ENST00000328090.5																			0											c.(4396-4398)aaC>aaA		family with sequence similarity 208, member B							63	60	61					10																	5789782		1880	4113	5993	SO:0001583	missense	54906							g.chr10:5789782C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4398C>A	10.37:g.5789782C>A	ENSP00000328426:p.Asn1466Lys						p.N1466K	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	5023	+			1466					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.4398C>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090770	0.07053	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04156	3.69	5.57	-2.13	0.07144	.	0.759371	0.12333	N	0.478211	T	0.02418	0.0074	L	0.31664	0.95	0.09310	N	1	B	0.21821	0.061	B	0.13407	0.009	T	0.47328	-0.9126	10	0.09338	T	0.73	.	1.1484	0.01780	0.1499:0.2737:0.1578:0.4187	.	1466	Q5VWN6	F208B_HUMAN	K	1466;661	ENSP00000328426:N1466K	ENSP00000328426:N1466K	N	+	3	2	C10orf18	5829788	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.429000	0.06982	-0.230000	0.09840	-0.137000	0.14449	AAC		0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		4	186	1	0	0.00909568	1	0.00915672	4	186					A	5789782	C	A	5789782	3	1	18	1	0	0	0	0	1	0	0	0	1601	564	20	3	4444	3	C10orf18	10	5789782	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		5789782	129744965	39	2199											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252	239	243					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	1095	0	0	0	1	0	8	1095					T	43622039	C	T	43622039	3	4	18	1	0	0	0	0	1	0	0	0	13285	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	37832257	43622039	91912708	40	2200											
C10orf71	118461	broad.mit.edu	37	chr10	50532475	50532475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggagatgggtcctgccGgatccagctggtgtccagac	15	10	0	2	rs377136815		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:50532475G>A	ENST00000374144.3	+	3	2173	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	C10orf71_ENST00000323868.4_Missense_Mutation_p.G629R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	629								p.G629*(1)		endometrium(1)	1						GGGTCCTGCCGGATCCAGCTG	0.567																																						ENST00000374144.3																			1	Substitution - Nonsense(1)	p.G629*(1)	prostate(1)	endometrium(1)	1						c.(1885-1887)Gga>Aga		chromosome 10 open reading frame 71		G	ARG/GLY,ARG/GLY	0,3902		0,0,1951	26	28	27		1885,1885	-0.9	0	10		27	1,8333		0,1,4166	no	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	125,125	0,1,6117	AA,AG,GG		0.012,0.0,0.0082	benign,benign	629/1436,629/720	50532475	1,12235	1951	4167	6118	SO:0001583	missense	118461							g.chr10:50532475G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1885G>A	10.37:g.50532475G>A	ENSP00000363259:p.Gly629Arg					C10orf71_ENST00000323868.4_Missense_Mutation_p.G629R	p.G629R			Q711Q0	CJ071_HUMAN			3	2173	+			629					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1885G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	0.328	-0.958059	0.02267	0.0	1.2E-4	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13196	2.61;3.69	5.74	-0.929	0.10444	.	1.066660	0.07463	N	0.901009	T	0.03434	0.0099	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42865	-0.9426	10	0.23891	T	0.37	.	6.3022	0.21119	0.5432:0.0:0.34:0.1168	.	629	Q711Q0-3	.	R	629	ENSP00000318713:G629R;ENSP00000363259:G629R	ENSP00000318713:G629R	G	+	1	0	C10orf71	50202481	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.233000	0.09041	-0.118000	0.11851	-1.239000	0.01543	GGA		0.567	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		20	60	0	0	0	1	0	20	60					A	50532475	G	A	50532475	3	1	18	1	0	0	0	0	1	0	0	0	1619	1117	39	1	1887	1	C10orf71	10	50532475	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	6910436	50532475	85002272	41	2201											
EIF3A	8661	broad.mit.edu	37	chr10	120830492	120830492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattattaagattgattgccGtactttggttatggtggcgc	12	5	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:120830492G>A	ENST00000369144.3	-	5	774	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EIF3A_ENST00000541549.1_Missense_Mutation_p.T182M	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)			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)		ATTGATTGCCGTACTTTGGTT	0.443																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(646-648)aCg>aTg		eukaryotic translation initiation factor 3, subunit A							157	145	149					10																	120830492		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.chr10:120830492G>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.647C>T	10.37:g.120830492G>A	ENSP00000358140:p.Thr216Met					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.T182M	p.T216M	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	5	774	-		Lung NSC(174;0.094)|all_lung(145;0.123)	216					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.647C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422747	0.62733	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.44083	0.93;0.93	5.69	5.69	0.88448	.	0.000000	0.40469	N	0.001098	T	0.63815	0.2543	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58025	-0.7709	10	0.34782	T	0.22	-22.9502	19.813	0.96554	0.0:0.0:1.0:0.0	.	216	Q14152	EIF3A_HUMAN	M	216;182	ENSP00000358140:T216M;ENSP00000438178:T182M	ENSP00000358140:T216M	T	-	2	0	EIF3A	120820482	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	ACG		0.443	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		5	272	0	0	0	1	0	5	272					A	120830492	G	A	120830492	3	1	18	1	0	0	0	0	1	0	0	0	5028	1145	40	1	3573	1	EIF3A	10	120830492	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	70298017	120830492	14704255	42	2202											
INPP5F	22876	broad.mit.edu	37	chr10	121541192	121541192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcagaaagcattggtggGcaaactcccaggagaccatg	13	10	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:121541192G>A	ENST00000361976.2	+	3	390	c.224G>A	c.(223-225)gGc>gAc	p.G75D	INPP5F_ENST00000369081.1_5'UTR|INPP5F_ENST00000369083.3_Missense_Mutation_p.G75D	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCATTGGTGGGCAAACTCCCA	0.438																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(223-225)gGc>gAc		inositol polyphosphate-5-phosphatase F							79	74	75					10																	121541192		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121541192G>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.224G>A	10.37:g.121541192G>A	ENSP00000354519:p.Gly75Asp					INPP5F_ENST00000369083.3_Missense_Mutation_p.G75D|INPP5F_ENST00000369081.1_5'UTR	p.G75D	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	3	390	+		Lung NSC(174;0.109)|all_lung(145;0.142)	75					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.224G>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655701	0.88056	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.59502	0.26;0.26	5.96	5.04	0.67666	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.962	D	0.86073	0.1539	10	0.87932	D	0	-18.5695	16.4613	0.84055	0.0:0.0:0.8678:0.1322	.	75;75	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	D	75	ENSP00000354519:G75D;ENSP00000358079:G75D	ENSP00000354519:G75D	G	+	2	0	INPP5F	121531182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.091000	0.94151	1.474000	0.48178	0.655000	0.94253	GGC		0.438	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		4	182	0	0	0	1	0	4	182					A	121541192	G	A	121541192	3	1	18	1	0	0	0	0	1	0	0	0	7788	1203	42	2	234	2	INPP5F	10	121541192	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	710700	121541192	13993555	43	2203											
MUC5B	727897	broad.mit.edu	37	chr11	1269965	1269965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcactgatcaccacggccaCtacgatcacggccaccggct	8	17	3	1	rs201943411		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:1269965C>A	ENST00000529681.1	+	31	11913	c.11855C>A	c.(11854-11856)aCt>aAt	p.T3952N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3955N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3952	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		accacggccactacgatcacg	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11863-11865)aCt>aAt		mucin 5B, oligomeric mucus/gel-forming							110	139	130					11																	1269965		1981	3993	5974	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269965C>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		ENST00000529681.1:c.11855C>A	11.37:g.1269965C>A	ENSP00000436812:p.Thr3952Asn					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3952N	p.T3955N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11922	+		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)	3952			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11864C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	4.824	0.153222	0.09185	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20069	2.1;2.29	2.7	1.75	0.24633	.	.	.	.	.	T	0.38532	0.1044	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.60789	0.879	T	0.12630	-1.0540	9	0.87932	D	0	.	9.0626	0.36444	0.0:0.8761:0.0:0.1239	.	3955	E9PBJ0	.	N	3952;3955;3896	ENSP00000436812:T3952N;ENSP00000415793:T3955N	ENSP00000343037:T3896N	T	+	2	0	MUC5B	1226541	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.026000	0.13599	0.429000	0.26202	0.298000	0.19748	ACT		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	32	1	0	0.014758	1	0.014758	4	32					A	1269965	C	A	1269965	3	1	18	1	0	0	0	0	1	0	0	0	10020	565	20	3	11986	3	MUC5B	11	1269965	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		1269965	133736551	44	2204											
COPB1	1315	broad.mit.edu	37	chr11	14501262	14501263	+	Splice_Site	INS	-	-	A													actgagaaattccattaactINSaaaagaaaaaaaaaaaaaag							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:14501262_14501263insA	ENST00000249923.3	-	11	1513		c.e11-2		COPB1_ENST00000439561.2_Splice_Site|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCCATTAACTAAAAGAAAAAA	0.307																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.e11-2		coatomer protein complex, subunit beta 1																																				SO:0001630	splice_region_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14501262_14501263insA	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1213-2->T	11.37:g.14501266_14501266dupA						COPB1_ENST00000439561.2_Splice_Site		NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			11	1513	-								D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Splice_Site	INS	ENST00000249923.3	37		CCDS7815.1																																																																																				0.307	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	Intron	9	259						9	259	---	---	---	---	A	14501263	-	A	14501262	8	5	18	1	0	1	1	0	0	0	1	0	3737	1536	53	0	1698	0	COPB1	11	14501262	Splice_Site	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	13231297	14501262	120505254	45	2205											
ANO3	63982	broad.mit.edu	37	chr11	26556047	26556047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcttcagcaatgctactcGaagcagaatagtctatcaca	6	11	4	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:26556047G>A	ENST00000256737.3	+	9	1766	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ANO3_ENST00000537978.1_Missense_Mutation_p.R289Q|ANO3_ENST00000525139.1_Missense_Mutation_p.R289Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R159Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.R305Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGCTACTCGAAGCAGAATA	0.348																																						ENST00000256737.3																			1	Substitution - Missense(1)	p.R305Q(1)	skin(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(913-915)cGa>cAa		anoctamin 3							98	97	97					11																	26556047		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26556047G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.914G>A	11.37:g.26556047G>A	ENSP00000256737:p.Arg305Gln					ANO3_ENST00000531568.1_Missense_Mutation_p.R159Q|ANO3_ENST00000525139.1_Missense_Mutation_p.R289Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R289Q	p.R305Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			9	1766	+			305					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.914G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138511	0.94560	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90997	0.4839	10	0.87932	D	0	.	17.9596	0.89081	0.0:0.0:1.0:0.0	.	207;305	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	Q	289;289;305;207;159	ENSP00000440737:R289Q;ENSP00000432576:R289Q;ENSP00000256737:R305Q;ENSP00000432394:R159Q	ENSP00000256737:R305Q	R	+	2	0	ANO3	26512623	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.516000	0.98017	2.349000	0.79799	0.460000	0.39030	CGA		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		102	288	0	0	0	1	0	102	288					A	26556047	G	A	26556047	3	1	18	1	0	0	0	0	1	0	0	0	698	1058	37	1	948	1	ANO3	11	26556047	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	12054785	26556047	108450469	46	2206											
ELP4	26610	broad.mit.edu	37	chr11	31541617	31541617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggtggaggtttagccGttggaacagttcttctaatt	11	7	2	0	rs202180164	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:31541617G>A	ENST00000350638.5	+	2	273	c.238G>A	c.(238-240)Gtt>Att	p.V80I	ELP4_ENST00000379163.5_Missense_Mutation_p.V80I|ELP4_ENST00000395934.2_Missense_Mutation_p.V80I	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	80					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGTTTAGCCGTTGGAACAGT	0.348													G|||	2	0.000399361	0.0	0.0	5008	,	,		16955	0.0		0.002	False		,,,				2504	0.0					ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(238-240)Gtt>Att		elongator acetyltransferase complex subunit 4		G	ILE/VAL	0,3674		0,0,1837	249	235	239		238	4.2	0.9	11		239	1,8169		0,1,4084	yes	missense	ELP4	NM_019040.3	29	0,1,5921	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	80/425	31541617	1,11843	1837	4085	5922	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31541617G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.238G>A	11.37:g.31541617G>A	ENSP00000298937:p.Val80Ile					ELP4_ENST00000379163.5_Missense_Mutation_p.V80I|ELP4_ENST00000350638.5_Missense_Mutation_p.V80I	p.V80I			Q96EB1	ELP4_HUMAN			2	245	+	Lung SC(675;0.225)		80					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.238G>A	CCDS7875.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	10.03	1.239257	0.22711	0.0	1.22E-4	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.40756	1.02;1.02;1.02	5.15	4.23	0.50019	.	0.125811	0.53938	N	0.000059	T	0.52837	0.1759	L	0.41710	1.295	0.33585	D	0.600371	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.87578	0.869;0.995;0.998	T	0.57957	-0.7721	10	0.15066	T	0.55	-12.2988	15.406	0.74877	0.0731:0.0:0.9269:0.0	.	80;80;80	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	I	80	ENSP00000298937:V80I;ENSP00000368461:V80I;ENSP00000379267:V80I	ENSP00000298937:V80I	V	+	1	0	ELP4	31498193	1.000000	0.71417	0.922000	0.36590	0.892000	0.51952	4.374000	0.59543	0.692000	0.31613	-1.151000	0.01829	GTT		0.348	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		76	221	0	0	0	1	0	76	221					A	31541617	G	A	31541617	3	1	18	1	0	0	0	0	1	0	0	0	5100	1145	40	1	244	1	ELP4	11	31541617	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	4985570	31541617	103464899	47	2207											
OR5M11	219487	broad.mit.edu	37	chr11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagcttaatgagcGgcgggtcagcacagtagaag	13	7	1	3	rs200285217		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(544-546)cCg>cTg		olfactory receptor, family 5, subfamily M, member 11		A	LEU/PRO	0,4126		0,0,2063	46	48	48		545	2	0.5	11		48	4,8436		0,4,4216	yes	missense	OR5M11	NM_001005245.1	98	0,4,6279	AA,AG,GG		0.0474,0.0,0.0318	probably-damaging	182/306	56310189	4,12562	2063	4220	6283	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310189G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.545C>T	11.37:g.56310189G>A	ENSP00000432417:p.Pro182Leu						p.P182L	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	568	-			182					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.545C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	OR5M11	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		43	119	0	0	0	1	0	43	119					A	56310189	G	A	56310189	3	1	18	1	0	0	0	0	1	0	0	0	11216	1116	39	1	375	1	OR5M11	11	56310189	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	24768572	56310189	78696327	48	2208											
GLYATL1	92292	broad.mit.edu	37	chr11	58723412	58723412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaatgaagactcccGcagatttgtggggcagtttg	14	6	0	4	rs199557152		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:58723412G>A	ENST00000317391.4	+	8	1161	c.821G>A	c.(820-822)cGc>cAc	p.R274H	GLYATL1_ENST00000300079.5_Missense_Mutation_p.R305H|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	274						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R305H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAAGACTCCCGCAGATTTGTG	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19770	0.0		0.0	False		,,,				2504	0.0					ENST00000300079.5																			1	Substitution - Missense(1)	p.R305H(1)	skin(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(913-915)cGc>cAc		glycine-N-acyltransferase-like 1	Glycine(DB00145)						65	65	65					11																	58723412		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723412G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.821G>A	11.37:g.58723412G>A	ENSP00000322223:p.Arg274His					GLYATL1_ENST00000317391.4_Missense_Mutation_p.R274H|RP11-142C4.6_ENST00000533954.1_RNA	p.R305H	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	964	+			274					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.914G>A	CCDS55768.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	0.271	-0.993172	0.02145	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.18657	2.2;2.2	1.97	-2.28	0.06826	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.732987	0.11663	N	0.541605	T	0.06280	0.0162	N	0.04508	-0.205	0.09310	N	1	B;B	0.17465	0.022;0.01	B;B	0.12156	0.004;0.007	T	0.36529	-0.9744	10	0.13853	T	0.58	.	1.8117	0.03092	0.4455:0.0:0.2831:0.2714	.	305;274	Q969I3-2;Q969I3	.;GLYL1_HUMAN	H	251;274;305	ENSP00000322223:R274H;ENSP00000300079:R305H	ENSP00000300079:R305H	R	+	2	0	GLYATL1	58479988	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.478000	0.02329	-0.626000	0.05596	0.411000	0.27672	CGC		0.448	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		89	231	0	0	0	1	0	89	231					A	58723412	G	A	58723412	3	1	18	1	0	0	0	0	1	0	0	0	6509	1087	38	1	940	1	GLYATL1	11	58723412	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2413223	58723412	76283104	49	2209											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193	185	188					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		8	1128						8	1128	---	---	---	---	-	61732517	T	-	61732517	7	5	18	1	0	1	0	1	0	0	0	0	6109	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-2L-AAQE-01A-11D-A397-08	3009105	61732517	73273999	50	2210											
AHNAK	79026	broad.mit.edu	37	chr11	62287090	62287090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttctaacttcggaccTgaaaatccaatttttggtgc	6	12	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:62287090T>C	ENST00000378024.4	-	5	15073	c.14799A>G	c.(14797-14799)tcA>tcG	p.S4933S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4933					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCGGACCTGAAAATCCAA	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14797-14799)tcA>tcG		AHNAK nucleoprotein							93	87	89					11																	62287090		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287090T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14799A>G	11.37:g.62287090T>C						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.S4933S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15073	-		Melanoma(852;0.155)	4933					A1A586	Silent	SNP	ENST00000378024.4	37	c.14799A>G	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	521	0	0	0	1	0	5	521					C	62287090	T	C	62287090	2	2	18	1	0	0	0	0	0	0	0	1	414	1567	55	4		4	AHNAK	11	62287090	Silent	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	554573	62287090	72719426	51	2211											
MARK2	2011	broad.mit.edu	37	chr11	63669692	63669692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgacaccatcacccTgaaaccccggccttcagctg	10	16	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:63669692T>C	ENST00000509502.2	+	12	1488	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	MARK2_ENST00000425897.2_Missense_Mutation_p.L342P|MARK2_ENST00000513765.2_Missense_Mutation_p.L342P|MARK2_ENST00000315032.8_Missense_Mutation_p.L375P|MARK2_ENST00000402010.2_Missense_Mutation_p.L375P|MARK2_ENST00000361128.5_Missense_Mutation_p.L375P|MARK2_ENST00000508192.1_Missense_Mutation_p.L375P|MARK2_ENST00000413835.2_Missense_Mutation_p.L375P|MARK2_ENST00000502399.3_Missense_Mutation_p.L375P|MARK2_ENST00000408948.3_Missense_Mutation_p.L342P|MARK2_ENST00000350490.7_Missense_Mutation_p.L375P|MARK2_ENST00000377809.4_Missense_Mutation_p.L375P|MARK2_ENST00000377810.3_Missense_Mutation_p.L342P	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCATCACCCTGAAACCCCGG	0.552											OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1123-1125)cTg>cCg		MAP/microtubule affinity-regulating kinase 2							74	62	66					11																	63669692		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63669692T>C	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1025T>C	11.37:g.63669692T>C	ENSP00000423974:p.Leu342Pro		OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1070	MARK2_ENST00000508192.1_Missense_Mutation_p.L375P|MARK2_ENST00000377809.4_Missense_Mutation_p.L375P|MARK2_ENST00000502399.3_Missense_Mutation_p.L375P|MARK2_ENST00000425897.2_Missense_Mutation_p.L342P|MARK2_ENST00000513765.2_Missense_Mutation_p.L342P|MARK2_ENST00000315032.8_Missense_Mutation_p.L375P|MARK2_ENST00000408948.3_Missense_Mutation_p.L342P|MARK2_ENST00000350490.7_Missense_Mutation_p.L375P|MARK2_ENST00000413835.2_Missense_Mutation_p.L375P|MARK2_ENST00000361128.5_Missense_Mutation_p.L375P|MARK2_ENST00000377810.3_Missense_Mutation_p.L342P|MARK2_ENST00000509502.2_Missense_Mutation_p.L342P	p.L375P	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			12	1703	+			375						Missense_Mutation	SNP	ENST00000509502.2	37	c.1124T>C	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.516748	0.44763	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.07	5.07	0.68467	.	0.088996	0.47455	D	0.000234	T	0.47210	0.1433	L	0.61218	1.895	0.80722	D	1	B;B;B;D;B;B	0.63880	0.005;0.004;0.003;0.993;0.019;0.002	B;B;B;P;B;B	0.61132	0.008;0.012;0.029;0.884;0.014;0.007	T	0.33701	-0.9858	10	0.27785	T	0.31	.	13.9456	0.64082	0.0:0.0:0.0:1.0	.	342;342;375;375;375;375	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	P	375;375;375;375;342;375;375;375;375;342;342;342;342	ENSP00000385751:L375P;ENSP00000326632:L375P;ENSP00000367040:L375P;ENSP00000389184:L375P;ENSP00000367041:L342P;ENSP00000425765:L375P;ENSP00000355091:L375P;ENSP00000294247:L375P;ENSP00000423974:L342P;ENSP00000421075:L342P;ENSP00000386128:L342P;ENSP00000415494:L342P	ENSP00000326632:L375P	L	+	2	0	MARK2	63426268	0.999000	0.42202	0.991000	0.47740	0.946000	0.59487	3.585000	0.53943	2.125000	0.65367	0.454000	0.30748	CTG		0.552	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		5	246	0	0	0	1	0	5	246					C	63669692	T	C	63669692	3	2	18	1	0	0	0	0	1	0	0	0	9354	1580	55	4	1170	4	MARK2	11	63669692	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	1382602	63669692	71336824	52	2212											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		11	428						11	428	---	---	---	---	-	77069992	CAT	-	77069990	7	5	18	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2L-AAQE-01A-11D-A397-08	13400298	77069990	57936526	53	2213											
KIAA1377	57562	broad.mit.edu	37	chr11	101834466	101834466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcaagcagttgcccgGcaagatgcgacattatattg	11	10	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:101834466G>A	ENST00000263468.8	+	6	2970	c.2700G>A	c.(2698-2700)cgG>cgA	p.R900R	KIAA1377_ENST00000537689.1_Silent_p.R701R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	900										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGTTGCCCGGCAAGATGCGA	0.413																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(2698-2700)cgG>cgA		KIAA1377							84	85	85					11																	101834466		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101834466G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2700G>A	11.37:g.101834466G>A						KIAA1377_ENST00000537689.1_Silent_p.R701R	p.R900R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2970	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	900					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.2700G>A	CCDS31658.1																																																																																				0.413	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		5	503	0	0	0	1	0	5	503					A	101834466	G	A	101834466	2	1	18	1	0	0	0	0	0	0	0	1	8257	1190	42	2		2	KIAA1377	11	101834466	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	24764476	101834466	33172050	54	2214											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		72	172	0	0	0	1	0	72	172					T	25398284	C	T	25398284	3	4	18	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		25398284	108453611	55	2215											
RND1	27289	broad.mit.edu	37	chr12	49254866	49254866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgtcttgcagccaaTgagcaaaacgcgggtgctgg	14	10	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:49254866T>A	ENST00000309739.5	-	4	497	c.367A>T	c.(367-369)Att>Ttt	p.I123F		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	123					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TTGCAGCCAATGAGCAAAACG	0.552																																						ENST00000309739.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						c.(367-369)Att>Ttt		Rho family GTPase 1							103	92	96					12																	49254866		2203	4300	6503	SO:0001583	missense	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49254866T>A	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.367A>T	12.37:g.49254866T>A	ENSP00000308461:p.Ile123Phe						p.I123F	NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN			4	497	-			123					A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	c.367A>T	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185328	0.78677	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.79352	-1.26;-1.26	5.66	3.33	0.38152	Small GTP-binding protein domain (1);	0.051099	0.85682	D	0.000000	T	0.74718	0.3753	L	0.61387	1.9	0.58432	D	0.999998	P	0.47962	0.903	B	0.44108	0.441	T	0.76266	-0.3022	10	0.87932	D	0	-22.6091	9.2452	0.37520	0.0:0.1499:0.0:0.8501	.	123	Q92730	RND1_HUMAN	F	17;123	ENSP00000447059:I17F;ENSP00000308461:I123F	ENSP00000308461:I123F	I	-	1	0	RND1	47541133	0.915000	0.31059	0.998000	0.56505	0.935000	0.57460	1.352000	0.34033	1.084000	0.41184	-0.274000	0.10170	ATT		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		118	239	0	0	0	1	0	118	239					A	49254866	T	A	49254866	3	1	18	1	0	0	0	0	1	0	0	0	13469	1464	51	5	339	5	RND1	12	49254866	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	23856582	49254866	84597029	56	2216											
ANKS1B	56899	broad.mit.edu	37	chr12	99898356	99898356	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttctcattttctgaaggaaAtgtatccagagaagcagatg	10	6	2	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:99898356A>T	ENST00000547776.2	-	10	1335	c.1336T>A	c.(1336-1338)Ttt>Att	p.F446I	ANKS1B_ENST00000547010.1_Missense_Mutation_p.F26I|ANKS1B_ENST00000329257.7_Missense_Mutation_p.F446I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	446						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGAAGGAAATGTATCCAGA	0.383																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1336-1338)Ttt>Att		ankyrin repeat and sterile alpha motif domain containing 1B							63	62	62					12																	99898356		1825	4081	5906	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99898356A>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1336T>A	12.37:g.99898356A>T	ENSP00000449629:p.Phe446Ile					ANKS1B_ENST00000547010.1_Missense_Mutation_p.F26I|ANKS1B_ENST00000329257.7_Missense_Mutation_p.F446I	p.F446I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	10	1335	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	446					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1336T>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890646	0.52014	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61742	0.92;0.08;0.92;0.78	5.68	5.68	0.88126	.	0.136396	0.48767	D	0.000169	T	0.41766	0.1173	L	0.29908	0.895	0.80722	D	1	B;B;B	0.32829	0.386;0.386;0.02	B;B;B	0.27170	0.077;0.077;0.006	T	0.33828	-0.9853	9	.	.	.	-6.2914	11.418	0.49965	0.8382:0.1618:0.0:0.0	.	412;26;446	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	I	446;26;446;25;412	ENSP00000449629:F446I;ENSP00000448512:F26I;ENSP00000331381:F446I;ENSP00000449894:F412I	.	F	-	1	0	ANKS1B	98422487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.066000	0.50002	2.175000	0.68902	0.528000	0.53228	TTT		0.383	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		17	48	0	0	0	1	0	17	48					T	99898356	A	T	99898356	3	4	18	1	0	0	0	0	1	0	0	0	689	101	4	5	2766	5	ANKS1B	12	99898356	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08	50643490	99898356	33953539	57	2217											
SRRM4	84530	broad.mit.edu	37	chr12	119568554	119568554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgctgctccaagacccTctgcaaggacagccctgagg	11	17	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:119568554T>A	ENST00000267260.4	+	8	1074	c.686T>A	c.(685-687)cTc>cAc	p.L229H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	229	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAAGACCCTCTGCAAGGAC	0.652																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(685-687)cTc>cAc		serine/arginine repetitive matrix 4							25	30	29					12																	119568554		1926	4121	6047	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568554T>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.686T>A	12.37:g.119568554T>A	ENSP00000267260:p.Leu229His					SRRM4_ENST00000537597.1_3'UTR	p.L229H	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1074	+			229			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.686T>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590902	0.46214	.	.	ENSG00000139767	ENST00000267260	T	0.23552	1.9	5.07	2.5	0.30297	.	0.407083	0.22564	N	0.058424	T	0.11239	0.0274	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21381	-1.0247	10	0.15066	T	0.55	-8.4824	1.5524	0.02578	0.1784:0.0995:0.1716:0.5504	.	229	A7MD48	SRRM4_HUMAN	H	229	ENSP00000267260:L229H	ENSP00000267260:L229H	L	+	2	0	SRRM4	118052937	0.059000	0.20769	0.996000	0.52242	0.987000	0.75469	0.734000	0.26101	0.734000	0.32515	0.368000	0.22195	CTC		0.652	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		28	66	0	0	0	1	0	28	66					A	119568554	T	A	119568554	3	1	18	1	0	0	0	0	1	0	0	0	15223	1551	54	5	716	5	SRRM4	12	119568554	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	19670198	119568554	14283341	58	2218											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	438						7	438	---	---	---	---	-	46542017	CT	-	46542016	7	5	18	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-2L-AAQE-01A-11D-A397-08		46542016	68627862	59	2219											
APEX1	328	broad.mit.edu	37	chr14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-													cgggaatgccgaagcgtgggAaaaagggagcggtggcggaa							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aaafs	p.K7fs	APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557365.1_Intron|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(16-18)aafs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						111	101	104					14																	20923820		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20923820delA	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.16delA	14.37:g.20923820delA	ENSP00000216714:p.Lys7fs					APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs	p.K7fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	284	+	all_cancers(95;0.00123)	all_lung(585;0.235)	7			Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.16delA	CCDS9550.1																																																																																				0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		7	777						7	777	---	---	---	---	-	20923820	A	-	20923820	7	5	18	1	0	1	0	1	0	0	0	0	769	247	9	0	18	0	APEX1	14	20923820	Frame_Shift_Del	DEL	A	TCGA-2L-AAQE-01A-11D-A397-08		20923820	86425720	60	2220											
PRMT5	10419	broad.mit.edu	37	chr14	23398431	23398431	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccccgagttcggaccccGcattccgctcgtggaggtcc	12	17	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:23398431G>A	ENST00000324366.8	-	1	334				PRMT5_ENST00000397441.2_Missense_Mutation_p.R2W|PRMT5_ENST00000538452.1_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.R2W|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.R2W|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCGGACCCCGCATTCCGCTC	0.627																																						ENST00000397441.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(4-6)Cgg>Tgg		protein arginine methyltransferase 5							65	68	67					14																	23398431		2203	4300	6503	SO:0001627	intron_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398431G>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+29C>T	14.37:g.23398431G>A						PRMT5_ENST00000216350.8_Missense_Mutation_p.R2W|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.R2W|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Intron	p.R2W	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	179	-	all_cancers(95;2.76e-05)		0					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.4C>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786228	0.31593	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	5.36	4.45	0.53987	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.42832	D	0.994027	D;D;P	0.57899	0.964;0.981;0.938	B;B;B	0.26094	0.066;0.066;0.066	T	0.09122	-1.0689	8	0.59425	D	0.04	.	11.1564	0.48491	0.0:0.0:0.8162:0.1838	.	2;2;2	B4DX49;A8MTP3;A8MZ91	.;.;.	W	2	.	ENSP00000216350:R2W	R	-	1	2	PRMT5	22468271	0.890000	0.30428	0.948000	0.38648	0.962000	0.63368	2.143000	0.42187	1.461000	0.47929	0.563000	0.77884	CGG		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			6	418	0	0	0	1	0	6	418					A	23398431	G	A	23398431	1	1	18	0	1	0	0	0	0	0	0	0	12586	1086	38	1		1	PRMT5	14	23398431	Intron	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2474611	23398431	83951109	61	2221											
C14orf21	161424	broad.mit.edu	37	chr14	24773449	24773449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagcccctctgtgacgcGcaagctgcgccgccgtgtgc	13	17	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:24773449G>A	ENST00000267425.3	+	8	1706	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	538							poly(A) RNA binding (GO:0044822)										TCTGTGACGCGCAAGCTGCGC	0.557																																						ENST00000267425.3																			0											c.(1612-1614)cGc>cAc		NOP9 nucleolar protein							58	51	54					14																	24773449		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24773449G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1613G>A	14.37:g.24773449G>A	ENSP00000267425:p.Arg538His					NOP9_ENST00000396802.3_Intron	p.R538H	NM_174913.1	NP_777573.1					8	1706	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.1613G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124662	0.37533	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.13778	2.56	5.34	2.47	0.30058	Armadillo-like helical (1);Armadillo-type fold (1);	0.337741	0.30473	N	0.009546	T	0.07728	0.0194	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.20273	-1.0280	10	0.41790	T	0.15	-6.0974	7.1868	0.25804	0.4147:0.0:0.5853:0.0	.	538	Q86U38	CN021_HUMAN	H	538;89	ENSP00000267425:R538H	ENSP00000267425:R538H	R	+	2	0	C14orf21	23843289	0.001000	0.12720	0.999000	0.59377	0.857000	0.48899	0.244000	0.18124	0.809000	0.34255	0.655000	0.94253	CGC		0.557	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			5	352	0	0	0	1	0	5	352					A	24773449	G	A	24773449	3	1	18	1	0	0	0	0	1	0	0	0	1774	1087	38	1	1643	1	C14orf21	14	24773449	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1375018	24773449	82576091	62	2222											
LTB4R	1241	broad.mit.edu	37	chr14	24784967	24784967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtggggcttcccggcaacaGctttgtggtgtggagtatcc	15	9	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:24784967G>C	ENST00000396789.4	+	2	1835	c.110G>C	c.(109-111)aGc>aCc	p.S37T	LTB4R_ENST00000396782.2_Missense_Mutation_p.S37T|LTB4R_ENST00000345363.3_Missense_Mutation_p.S37T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	37					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCCGGCAACAGCTTTGTGGTG	0.577																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(109-111)aGc>aCc		leukotriene B4 receptor							168	152	157					14																	24784967		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24784967G>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.110G>C	14.37:g.24784967G>C	ENSP00000380008:p.Ser37Thr					LTB4R_ENST00000345363.3_Missense_Mutation_p.S37T|LTB4R_ENST00000396782.2_Missense_Mutation_p.S37T	p.S37T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1835	+			37					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.110G>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201347	0.09652	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.89	0.269	0.15631	GPCR, rhodopsin-like superfamily (1);	0.568969	0.17126	U	0.186005	T	0.19846	0.0477	L	0.28115	0.83	0.18873	N	0.999986	B	0.22003	0.063	B	0.18263	0.021	T	0.28933	-1.0028	10	0.10377	T	0.69	.	8.9335	0.35686	0.0:0.4012:0.3233:0.2755	.	37	Q15722	LT4R1_HUMAN	T	37	ENSP00000450457:S37T;ENSP00000307445:S37T;ENSP00000380008:S37T;ENSP00000380002:S37T	ENSP00000307445:S37T	S	+	2	0	LTB4R	23854807	0.015000	0.18098	0.089000	0.20774	0.999000	0.98932	0.329000	0.19698	0.050000	0.15949	0.655000	0.94253	AGC		0.577	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			170	466	0	0	0	1	0	170	466					C	24784967	G	C	24784967	3	2	18	1	0	0	0	0	1	0	0	0	9109	971	34	5	112	5	LTB4R	14	24784967	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	11518	24784967	82564573	63	2223											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	8	267						8	267	---	---	---	---	A	75601712	-	A	75601711	8	5	18	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	50816744	75601711	31747829	64	2224											
AHNAK2	113146	broad.mit.edu	37	chr14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggtcaccctccagccGcacactgtccagcttggctc	10	17	1	0	rs373634735		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5410-5412)Cgg>Tgg		AHNAK nucleoprotein 2		G	TRP/ARG	1,4013		0,1,2006	146	174	165		5410	-4.1	0	14		165	0,8296		0,0,4148	no	missense	AHNAK2	NM_138420.2	101	0,1,6154	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	1804/5796	105416378	1,12309	2007	4148	6155	SO:0001583	missense	113146					nucleus		g.chr14:105416378G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5410C>T	14.37:g.105416378G>A	ENSP00000353114:p.Arg1804Trp					AHNAK2_ENST00000557457.1_Intron	p.R1804W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5529	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1804					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5410C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097490	0.37048	2.49E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54772	0.968	B	0.33042	0.157	T	0.50372	-0.8836	9	0.66056	D	0.02	.	6.3633	0.21441	0.0:0.0:0.544:0.456	.	1804	Q8IVF2	AHNK2_HUMAN	W	1804	ENSP00000353114:R1804W	ENSP00000353114:R1804W	R	-	1	2	AHNAK2	104487423	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	0.456000	0.33151	CGG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	1436	0	0	0	1	0	8	1436					A	105416378	G	A	105416378	3	1	18	1	0	0	0	0	1	0	0	0	415	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	29814667	105416378	1933162	65	2225											
SNRPN	6638	broad.mit.edu	37	chr15	25223413	25223413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccctgctcgagggacGccaataggcatgccgcctcc	10	18	0	0	rs372752818		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:25223413G>A	ENST00000400100.1	+	12	1523	c.633G>A	c.(631-633)acG>acA	p.T211T	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Silent_p.T211T|SNRPN_ENST00000577565.1_Silent_p.T211T|SNRPN_ENST00000390687.4_Silent_p.T211T|SNRPN_ENST00000444203.2_Silent_p.T215T|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Silent_p.T211T|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000346403.6_Silent_p.T211T|SNRPN_ENST00000554227.2_Silent_p.T215T	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	211	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTCGAGGGACGCCAATAGGCA	0.557									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(643-645)acG>acA		small nuclear ribonucleoprotein polypeptide N		G	,,,,,	0,3784		0,0,1892	117	116	116		633,,633,633,633,633	-7.7	0	15		116	3,8207		0,3,4102	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SNRPN,SNURF	NM_003097.3,NM_005678.3,NM_022805.2,NM_022806.2,NM_022807.2,NM_022808.2	,,,,,	0,3,5994	AA,AG,GG		0.0365,0.0,0.025	,,,,,	211/241,,211/241,211/241,211/241,211/241	25223413	3,11991	1892	4105	5997	SO:0001819	synonymous_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223413G>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.633G>A	15.37:g.25223413G>A						SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Silent_p.T211T|SNRPN_ENST00000554227.2_Silent_p.T215T|SNRPN_ENST00000390687.4_Silent_p.T211T|SNRPN_ENST00000400097.1_Silent_p.T211T|SNRPN_ENST00000400098.1_Silent_p.T211T|SNRPN_ENST00000346403.6_Silent_p.T211T|SNRPN_ENST00000400100.1_Silent_p.T211T	p.T215T			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1684	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	211			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.645G>A	CCDS10017.1																																																																																				0.557	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		190	497	0	0	0	1	0	190	497					A	25223413	G	A	25223413	2	1	18	1	0	0	0	0	0	0	0	1	14920	1074	38	1		1	SNRPN	15	25223413	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		25223413	77307979	66	2226											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		9	365						9	365	---	---	---	---	T	41029894	-	T	41029893	7	5	18	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	15806480	41029893	61501499	67	2227											
USP8	9101	broad.mit.edu	37	chr15	50782531	50782531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttcatatgtacccaccGgaaatggctccttcatctgc	7	13	3	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:50782531G>A	ENST00000396444.3	+	14	2381	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	USP8_ENST00000307179.4_Silent_p.P681P|USP8_ENST00000425032.3_Silent_p.P575P|USP8_ENST00000433963.1_Silent_p.P681P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	681					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGTACCCACCGGAAATGGCTC	0.458																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2041-2043)ccG>ccA		ubiquitin specific peptidase 8							148	139	142					15																	50782531		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782531G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2043G>A	15.37:g.50782531G>A						USP8_ENST00000425032.3_Silent_p.P575P|USP8_ENST00000307179.4_Silent_p.P681P|USP8_ENST00000396444.3_Silent_p.P681P	p.P681P	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2543	+			681					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2043G>A	CCDS10137.1																																																																																				0.458	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		5	655	0	0	0	1	0	5	655					A	50782531	G	A	50782531	2	1	18	1	0	0	0	0	0	0	0	1	17143	1103	39	1		1	USP8	15	50782531	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	9752638	50782531	51748861	68	2228											
CPLX3	594855	broad.mit.edu	37	chr15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-													agatgatcgaggaggacacaGaggaggaggaggagaaggcc							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)gagdel	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118					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)			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(340-342)del		complexin 3				22,4242		10,2,2120						-5.3	1			72	52,8202		23,6,4098	no	coding	CPLX3	NM_001030005.2		33,8,6218	A1A1,A1R,RR		0.63,0.5159,0.5911				74,12444				SO:0001651	inframe_deletion	594855					cell junction|synapse	syntaxin binding	g.chr15:75122558_75122560delGAG	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.340_342delGAG	15.37:g.75122567_75122569delGAG	ENSP00000378464:p.Glu118del					RP11-414J4.2_ENST00000564823.1_RNA	p.E118del	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	497_499	+			118					D3DW66|Q8TEM6|Q9H818	In_Frame_Del	DEL	ENST00000395018.4	37	c.340_342delGAG	CCDS32294.1																																																																																				0.616	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		7	364						7	364	---	---	---	---	-	75122560	GAG	-	75122558	7	5	18	1	0	1	0	1	0	0	0	0	3815	943	33	0	350	0	CPLX3	15	75122558	In_Frame_Del	DEL	GAG	TCGA-2L-AAQE-01A-11D-A397-08	24340027	75122558	27408834	69	2229											
ABCC1	4363	broad.mit.edu	37	chr16	16150130	16150130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccgtgggcaccttcaCctgggtctgcacgccctttc	11	16	3	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:16150130C>T	ENST00000399410.3	+	12	1830	c.1655C>T	c.(1654-1656)aCc>aTc	p.T552I	ABCC1_ENST00000345148.5_Missense_Mutation_p.T552I|ABCC1_ENST00000399408.2_Missense_Mutation_p.T552I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T552I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T552I|ABCC1_ENST00000346370.5_Missense_Mutation_p.T552I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	552	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGCACCTTCACCTGGGTCTGC	0.517																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1654-1656)aCc>aTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						56	58	58					16																	16150130		2050	4203	6253	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16150130C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1655C>T	16.37:g.16150130C>T	ENSP00000382342:p.Thr552Ile					ABCC1_ENST00000345148.5_Missense_Mutation_p.T552I|ABCC1_ENST00000399410.3_Missense_Mutation_p.T552I|ABCC1_ENST00000346370.5_Missense_Mutation_p.T552I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T552I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T552I	p.T552I			P33527	MRP1_HUMAN			12	1830	+			552			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1655C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.123011	0.20959	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.29	4.34	0.51931	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.046759	0.85682	D	0.000000	D	0.88265	0.6390	N	0.21448	0.665	0.49915	D	0.99983	D;D;P;D;D;P;P	0.89917	0.998;0.996;0.821;1.0;0.999;0.806;0.923	D;P;P;D;D;P;P	0.76071	0.923;0.898;0.599;0.987;0.973;0.848;0.764	D	0.83738	0.0202	10	0.09338	T	0.73	-45.3552	13.1912	0.59711	0.0:0.9229:0.0:0.0771	.	552;552;552;552;552;552;552	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	I	552;552;552;552;552;552;226	ENSP00000382342:T552I;ENSP00000382340:T552I;ENSP00000263019:T552I;ENSP00000263017:T552I;ENSP00000263014:T552I;ENSP00000263016:T552I	ENSP00000263014:T552I	T	+	2	0	ABCC1	16057631	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.450000	0.80656	1.216000	0.43427	0.462000	0.41574	ACC		0.517	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		39	161	0	0	0	1	0	39	161					T	16150130	C	T	16150130	3	4	18	1	0	0	0	0	1	0	0	0	49	507	18	2	1701	2	ABCC1	16	16150130	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		16150130	74204623	70	2230											
XYLT1	64131	broad.mit.edu	37	chr16	17235134	17235134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgaaccgccatccacgGcaatgccctctgggatccgc	10	17	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:17235134G>A	ENST00000261381.6	-	7	1547	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	488					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCATCCACGGCAATGCCCTC	0.577																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1462-1464)gCc>gTc		xylosyltransferase I							98	100	99					16																	17235134		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17235134G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1463C>T	16.37:g.17235134G>A	ENSP00000261381:p.Ala488Val						p.A488V	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			7	1547	-			488					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1463C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790357	0.16258	.	.	ENSG00000103489	ENST00000261381	T	0.11385	2.78	5.92	5.92	0.95590	.	0.342297	0.36374	N	0.002632	T	0.04770	0.0129	N	0.02142	-0.665	0.09310	N	0.999997	P	0.45044	0.849	B	0.40702	0.338	T	0.45527	-0.9255	10	0.20046	T	0.44	-20.7778	14.1696	0.65500	0.0:0.0:0.8505:0.1495	.	488	Q86Y38	XYLT1_HUMAN	V	488	ENSP00000261381:A488V	ENSP00000261381:A488V	A	-	2	0	XYLT1	17142635	0.894000	0.30519	0.015000	0.15790	0.196000	0.23810	4.775000	0.62346	2.797000	0.96272	0.555000	0.69702	GCC		0.577	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	496	0	0	0	1	0	5	496					A	17235134	G	A	17235134	3	1	18	1	0	0	0	0	1	0	0	0	17517	1203	42	2	1440	2	XYLT1	16	17235134	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1085004	17235134	73119619	71	2231											
TMC7	79905	broad.mit.edu	37	chr16	19067891	19067891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgaaagcctgtgggccGttcaccaacttcaacaccac	7	16	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:19067891G>A	ENST00000304381.5	+	14	2029	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	TMC7_ENST00000569532.1_Silent_p.P633P|TMC7_ENST00000421369.3_Silent_p.P523P	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	633					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTGTGGGCCGTTCACCAACT	0.602																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1567-1569)ccG>ccA		transmembrane channel-like 7							172	124	141					16																	19067891		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19067891G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1899G>A	16.37:g.19067891G>A						TMC7_ENST00000569532.1_Silent_p.P633P|TMC7_ENST00000304381.5_Silent_p.P633P	p.P523P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			14	2127	+			633					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1569G>A	CCDS10573.1																																																																																				0.602	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		5	321	0	0	0	1	0	5	321					A	19067891	G	A	19067891	2	1	18	1	0	0	0	0	0	0	0	1	16042	1132	40	1		1	TMC7	16	19067891	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1832757	19067891	71286862	72	2232											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		15	3089						15	3089	---	---	---	---	-	28734581	GAG	-	28734579	7	5	18	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-2L-AAQE-01A-11D-A397-08	9666688	28734579	61620174	73	2233											
ITGAX	3687	broad.mit.edu	37	chr16	31391078	31391078	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgccctctgtgcagGtcaataacctgggacagagg	12	12	3	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:31391078G>T	ENST00000268296.4	+	25	2990	c.2869G>T	c.(2869-2871)Gtc>Ttc	p.V957F	ITGAX_ENST00000562522.1_Splice_Site_p.V957F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	957					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)			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						CTCTGTGCAGGTCAATAACCT	0.627																																						ENST00000268296.4																			0				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						c.e25-1		integrin, alpha X (complement component 3 receptor 4 subunit)							38	34	36					16																	31391078		2197	4300	6497	SO:0001630	splice_region_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391078G>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.2869-1G>T	16.37:g.31391078G>T						ITGAX_ENST00000562522.1_Splice_Site_p.V957_splice	p.V957_splice	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			25	2990	+			957					Q8IVA6	Splice_Site	SNP	ENST00000268296.4	37	c.2868_splice	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096174	0.36952	.	.	ENSG00000140678	ENST00000268296	T	0.56776	0.44	4.58	4.58	0.56647	Integrin alpha-2 (1);	.	.	.	.	T	0.58206	0.2106	L	0.33485	1.01	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.65573	0.936;0.918	T	0.54043	-0.8352	8	.	.	.	.	13.0477	0.58937	0.0:0.0:1.0:0.0	.	957;142	P20702;Q8TES5	ITAX_HUMAN;.	F	957	ENSP00000268296:V957F	.	V	+	1	0	ITGAX	31298579	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	2.460000	0.45031	2.535000	0.85469	0.313000	0.20887	GTC		0.627	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	Missense_Mutation	34	59	1	0	4.74835e-14	1	5.05144e-14	34	59					T	31391078	G	T	31391078	5	4	18	1	0	0	0	0	0	0	1	0	7919	1275	44	3	2967	3	ITGAX	16	31391078	Splice_Site	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2656499	31391078	58963675	74	2234											
TP53	7157	broad.mit.edu	37	chr17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaatcatccattgcttGggacggcaagggggactgta	12	9	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:7579575G>A	ENST00000269305.4	-	4	301	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*	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	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)	TCCATTGCTTGGGACGGCAAG	0.592		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)	ENST00000420246.2		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"		23	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)	lung(4)|prostate(4)|bone(4)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|oesophagus(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						c.(112-114)Caa>Taa	Other conserved DNA damage response genes	tumor protein p53							159	156	157					17																	7579575		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579575G>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.112C>T	17.37:g.7579575G>A	ENSP00000269305:p.Gln38*	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_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*	p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	244	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	38			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.112C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571091	0.45798	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.41	-1.11	0.09840	.	3.135740	0.02989	U	0.146625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.2222	0.8266	0.01122	0.224:0.1841:0.4032:0.1887	.	.	.	.	X	38	.	ENSP00000269305:Q38X	Q	-	1	0	TP53	7520300	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.754000	0.04787	-0.145000	0.11294	0.561000	0.74099	CAA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		245	462	0	0	0	1	0	245	462					A	7579575	G	A	7579575	4	1	18	1	0	0	0	0	0	1	0	0	16434	1357	47	2	1190	2	TP53	17	7579575	Nonsense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		7579575	73615635	75	2235											
TEX14	56155	broad.mit.edu	37	chr17	56659016	56659016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcgaggagtaaaaatattCaccgtctggagttaaaaatt	9	5	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:56659016C>G	ENST00000240361.8	-	20	3350	c.3265G>C	c.(3265-3267)Gaa>Caa	p.E1089Q	TEX14_ENST00000389934.3_Missense_Mutation_p.E1083Q|TEX14_ENST00000349033.5_Intron			Q8IWB6	TEX14_HUMAN	testis expressed 14	1089					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAAAAATATTCACCGTCTGGA	0.368																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3247-3249)Gaa>Caa		testis expressed 14							92	91	91					17																	56659016		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56659016C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3265G>C	17.37:g.56659016C>G	ENSP00000240361:p.Glu1089Gln					TEX14_ENST00000240361.8_Missense_Mutation_p.E1089Q|TEX14_ENST00000349033.5_Intron	p.E1083Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			20	3364	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1089					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3247G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352360	0.41700	.	.	ENSG00000121101	ENST00000240361;ENST00000389934	T;T	0.80214	-1.35;-1.35	5.34	4.37	0.52481	.	0.200908	0.34603	N	0.003829	T	0.73048	0.3537	L	0.27053	0.805	0.29767	N	0.835083	P;P	0.52061	0.917;0.95	B;P	0.49887	0.421;0.625	T	0.68368	-0.5427	10	0.31617	T	0.26	-4.298	8.9678	0.35887	0.0:0.9008:0.0:0.0992	.	1089;1083	Q8IWB6;Q8IWB6-2	TEX14_HUMAN;.	Q	1089;1083	ENSP00000240361:E1089Q;ENSP00000374584:E1083Q	ENSP00000240361:E1089Q	E	-	1	0	TEX14	54014015	0.751000	0.28327	0.573000	0.28510	0.696000	0.40369	2.632000	0.46511	2.504000	0.84457	0.462000	0.41574	GAA		0.368	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			63	233	0	0	0	1	0	63	233					G	56659016	C	G	56659016	3	3	18	1	0	0	0	0	1	0	0	0	15830	835	29	5	1284	5	TEX14	17	56659016	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	49079441	56659016	24536194	76	2236											
SLC25A10	1468	broad.mit.edu	37	chr17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatctacgagactgtgCgggaccgtgtggccaagggc	15	12	1	1	rs199824906		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:79682550C>T	ENST00000350690.5	+	3	342	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000331531.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14954	0.0		0.001	False		,,,				2504	0.0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(256-258)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						136	141	139					17																	79682550		2203	4299	6502	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682550C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.256C>T	17.37:g.79682550C>T	ENSP00000345580:p.Arg86Trp					SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W	p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	376	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		86					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.256C>T	CCDS11786.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.01	3.002726	0.54254	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	3.88	2.81	0.32909	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.90759	3.145	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.981;0.963;0.978	D	0.90751	0.4657	10	0.87932	D	0	-20.6762	10.4438	0.44481	0.3778:0.6221:0.0:0.0	.	241;86;86	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	W	241;86;86;43	ENSP00000439565:R241W;ENSP00000328403:R86W;ENSP00000345580:R86W;ENSP00000446242:R43W	ENSP00000328403:R86W	R	+	1	2	SLC25A10	77292955	0.997000	0.39634	0.998000	0.56505	0.506000	0.33950	0.948000	0.29096	1.731000	0.51592	0.313000	0.20887	CGG		0.697	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			7	1143	0	0	0	1	0	7	1143					T	79682550	C	T	79682550	3	4	18	1	0	0	0	0	1	0	0	0	14522	759	27	1	266	1	SLC25A10	17	79682550	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	23023534	79682550	1512660	77	2237											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		11	397						11	397	---	---	---	---	-	12986929	TCC	-	12986927	6	5	18	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-2L-AAQE-01A-11D-A397-08		12986927	65090321	78	2238											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	1070						7	1070	---	---	---	---	T	21745097	-	T	21745096	7	5	18	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	8758169	21745096	56332152	79	2239											
SLC14A2	8170	broad.mit.edu	37	chr18	43248375	43248375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggctgctgatggccGtgttctcagacaaaggtgac	16	8	1	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:43248375G>A	ENST00000255226.6	+	15	2785	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V657M|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V134M|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	657					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGATGGCCGTGTTCTCAGA	0.557																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1969-1971)Gtg>Atg		solute carrier family 14 (urea transporter), member 2							199	165	176					18																	43248375		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248375G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1969G>A	18.37:g.43248375G>A	ENSP00000255226:p.Val657Met					SLC14A2_ENST00000589658.1_Missense_Mutation_p.V134M|SLC14A2_ENST00000586448.1_Missense_Mutation_p.V657M	p.V657M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2785	+			657					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1969G>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803356	0.90623	.	.	ENSG00000132874	ENST00000255226	T	0.53206	0.63	4.83	4.83	0.62350	.	0.000000	0.48286	D	0.000189	T	0.77896	0.4199	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84991	0.0894	10	0.87932	D	0	-24.2659	18.1372	0.89623	0.0:0.0:1.0:0.0	.	657	Q15849	UT2_HUMAN	M	657	ENSP00000255226:V657M	ENSP00000255226:V657M	V	+	1	0	SLC14A2	41502373	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	7.101000	0.76997	2.503000	0.84419	0.563000	0.77884	GTG		0.557	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			4	259	0	0	0	1	0	4	259					A	43248375	G	A	43248375	3	1	18	1	0	0	0	0	1	0	0	0	14447	1145	40	1	2023	1	SLC14A2	18	43248375	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	21503279	43248375	34828873	80	2240											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			11	527						11	527	---	---	---	---	-	55992286	TCC	-	55992284	7	5	18	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-2L-AAQE-01A-11D-A397-08	12743909	55992284	22084964	81	2241											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	265						7	265	---	---	---	---	-	6531151	GCT	-	6531149	7	5	18	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-2L-AAQE-01A-11D-A397-08		6531149	52597834	82	2242											
FBN3	84467	broad.mit.edu	37	chr19	8155007	8155007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctcctggggacacagttCgcaggggtctccccagccct	12	17	1	0	rs149936210	byFrequency	TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:8155007C>T	ENST00000600128.1	-	49	6574	c.6160G>A	c.(6160-6162)Gaa>Aaa	p.E2054K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2054K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2054K			Q75N90	FBN3_HUMAN	fibrillin 3	2054	TB 8.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACACAGTTCGCAGGGGTCT	0.612													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17954	0.0		0.0	False		,,,				2504	0.0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6160-6162)Gaa>Aaa		fibrillin 3		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	38	38	38		6160	4.1	0.9	19	dbSNP_134	38	0,8600		0,0,4300	yes	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2054/2810	8155007	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8155007C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6160G>A	19.37:g.8155007C>T	ENSP00000470498:p.Glu2054Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.E2054K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2054K	p.E2054K			Q75N90	FBN3_HUMAN			49	6574	-			2054			TB 8.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6160G>A	CCDS12196.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	21.7	4.181062	0.78677	2.27E-4	0.0	ENSG00000142449	ENST00000270509	D	0.95885	-3.84	4.13	4.13	0.48395	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.95478	0.8531	M	0.82193	2.58	0.80722	D	1	D	0.69078	0.997	P	0.52758	0.708	D	0.94770	0.7944	10	0.51188	T	0.08	.	16.3935	0.83548	0.0:1.0:0.0:0.0	.	2054	Q75N90	FBN3_HUMAN	K	2054	ENSP00000270509:E2054K	ENSP00000270509:E2054K	E	-	1	0	FBN3	8061007	1.000000	0.71417	0.942000	0.38095	0.333000	0.28666	5.572000	0.67411	1.836000	0.53414	0.462000	0.41574	GAA		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		51	134	0	0	0	1	0	51	134					T	8155007	C	T	8155007	3	4	18	1	0	0	0	0	1	0	0	0	5729	893	31	1	2333	1	FBN3	19	8155007	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	1623858	8155007	50973976	83	2243											
OR7D2	162998	broad.mit.edu	37	chr19	9296821	9296821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgtgatggcctatgacCggtttgtggctgtctgccac	13	11	1	3	rs150499443		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:9296821C>T	ENST00000344248.2	+	1	543	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GGCCTATGACCGGTTTGTGGC	0.507																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(364-366)Cgg>Tgg		olfactory receptor, family 7, subfamily D, member 2		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	177	165	169		364	-0.2	1	19	dbSNP_134	169	0,8600		0,0,4300	yes	missense	OR7D2	NM_175883.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	122/313	9296821	2,13004	2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296821C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.364C>T	19.37:g.9296821C>T	ENSP00000345563:p.Arg122Trp						p.R122W	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	543	+			122					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.364C>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790563	0.31685	4.54E-4	0.0	ENSG00000188000	ENST00000344248	T	0.77620	-1.11	2.21	-0.197	0.13228	GPCR, rhodopsin-like superfamily (1);	0.200776	0.24490	U	0.038067	D	0.82309	0.5009	H	0.98314	4.2	0.22226	N	0.999272	P	0.35684	0.515	B	0.30572	0.117	T	0.77032	-0.2738	10	0.87932	D	0	.	8.8799	0.35367	0.5707:0.4293:0.0:0.0	.	122	Q96RA2	OR7D2_HUMAN	W	122	ENSP00000345563:R122W	ENSP00000345563:R122W	R	+	1	2	OR7D2	9157821	0.418000	0.25440	0.996000	0.52242	0.822000	0.46500	0.150000	0.16263	0.051000	0.15978	0.511000	0.50034	CGG		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			9	646	0	0	0	1	0	9	646					T	9296821	C	T	9296821	3	4	18	1	0	0	0	0	1	0	0	0	11261	643	23	1	366	1	OR7D2	19	9296821	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	1141814	9296821	49832162	84	2244											
DAND5	199699	broad.mit.edu	37	chr19	13084387	13084387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggcagctcagcctcccGtcgacgggtgaagatatcca	11	14	1	2	rs375577023		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:13084387G>A	ENST00000317060.2	+	2	688	c.509G>A	c.(508-510)cGt>cAt	p.R170H	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	170	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TCAGCCTCCCGTCGACGGGTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18772	0.0		0.0	False		,,,				2504	0.001					ENST00000317060.2																			0				kidney(2)|lung(3)|ovary(1)	6						c.(508-510)cGt>cAt		DAN domain family member 5, BMP antagonist		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130	106	114		509	-3.4	0	19		114	2,8598	2.2+/-6.3	0,2,4298	no	missense	DAND5	NM_152654.2	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	170/190	13084387	3,13003	2203	4300	6503	SO:0001583	missense	199699					extracellular region		g.chr19:13084387G>A	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.509G>A	19.37:g.13084387G>A	ENSP00000323155:p.Arg170His					DAND5_ENST00000585548.1_3'UTR	p.R170H	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)		2	688	+			170			CTCK.			Missense_Mutation	SNP	ENST00000317060.2	37	c.509G>A	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534859	0.27475	2.27E-4	2.33E-4	ENSG00000179284	ENST00000317060	T	0.33654	1.4	5.49	-3.42	0.04825	DAN (1);	0.906086	0.09091	N	0.849807	T	0.23410	0.0566	L	0.40543	1.245	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.29088	-1.0023	10	0.30854	T	0.27	-1.7171	5.2395	0.15464	0.3965:0.2644:0.3391:0.0	.	170	Q8N907	DAND5_HUMAN	H	170	ENSP00000323155:R170H	ENSP00000323155:R170H	R	+	2	0	DAND5	12945387	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.058000	0.11750	-0.216000	0.10048	-0.136000	0.14681	CGT		0.602	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		91	239	0	0	0	1	0	91	239					A	13084387	G	A	13084387	3	1	18	1	0	0	0	0	1	0	0	0	4241	1145	40	1	515	1	DAND5	19	13084387	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	3787566	13084387	46044596	85	2245											
DMKN	93099	broad.mit.edu	37	chr19	36004243	36004243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccccttcgctcagggcGtctcccaggccatgtccaag	9	19	2	0	rs113646456		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:36004243G>A	ENST00000339686.3	-	1	311	c.135C>T	c.(133-135)gaC>gaT	p.D45D	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000419602.1_Silent_p.D45D|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000424570.2_Silent_p.D45D|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000447113.2_Silent_p.D45D|DMKN_ENST00000418261.1_Silent_p.D45D|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000429837.1_Silent_p.D45D|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_Silent_p.D45D|DMKN_ENST00000440396.1_Silent_p.D45D|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	45	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGCTCAGGGCGTCTCCCAGGC	0.642																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(133-135)gaC>gaT		dermokine		G	,,,,,,	0,4406		0,0,2203	72	72	72		135,135,135,135,135,135,135	-8.5	0	19	dbSNP_132	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMKN	NM_001126056.2,NM_001126057.2,NM_001126058.2,NM_001190347.1,NM_001190348.1,NM_001190349.1,NM_033317.4	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	45/466,45/399,45/387,45/450,45/437,45/370,45/477	36004243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93099					extracellular region		g.chr19:36004243G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.135C>T	19.37:g.36004243G>A						DMKN_ENST00000419602.1_Silent_p.D45D|DMKN_ENST00000440396.1_Silent_p.D45D|DMKN_ENST00000418261.1_Silent_p.D45D|DMKN_ENST00000451297.2_Silent_p.D45D|DMKN_ENST00000429837.1_Silent_p.D45D|DMKN_ENST00000447113.2_Silent_p.D45D|DMKN_ENST00000424570.2_Silent_p.D45D	p.D45D	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	311	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		45			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	c.135C>T	CCDS12463.1																																																																																				0.642	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		65	269	0	0	0	1	0	65	269					A	36004243	G	A	36004243	2	1	18	1	0	0	0	0	0	0	0	1	4598	1136	40	1		1	DMKN	19	36004243	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	22919856	36004243	23124740	86	2246											
TIMM50	92609	broad.mit.edu	37	chr19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-													cagagggtcccagctatgccAaaaaagttgcgctctggctt							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:39972604delA	ENST00000607714.1	+	2	212	c.190delA	c.(190-192)aaafs	p.K65fs	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Frame_Shift_Del_p.K168fs|TIMM50_ENST00000544017.1_5'UTR			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(499-501)aafs		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							114	123	120					19																	39972604		2203	4300	6503	SO:0001589	frameshift_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972604delA	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.190delA	19.37:g.39972604delA	ENSP00000475531:p.Lys65fs					TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs	p.K168fs	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	632	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		65			FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.499delA																																																																																					0.607	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		8	780						8	780	---	---	---	---	-	39972604	A	-	39972604	7	5	18	1	0	1	0	1	0	0	0	0	15965	131	5	0	505	0	TIMM50	19	39972604	Frame_Shift_Del	DEL	A	TCGA-2L-AAQE-01A-11D-A397-08	3968361	39972604	19156379	87	2247											
ZNF780B	163131	broad.mit.edu	37	chr19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcaaagggtttctttcCggtatgaatacttcgatgtt	8	7	2	1	rs369018278		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					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.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388																																						ENST00000434248.1																			1	Substitution - Missense(1)	p.G581R(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1741-1743)Gga>Aga		zinc finger protein 780B		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	107	114	111		1741	1.5	0	19		111	0,8600		0,0,4300	no	missense	ZNF780B	NM_001005851.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	581/834	40541025	1,13005	2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541025C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1741G>A	19.37:g.40541025C>T	ENSP00000391641:p.Gly581Arg					ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	p.G581R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1806	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		581					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1741G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970459	0.74246	2.27E-4	0.0	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.26223	1.75;1.75	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43277	0.1240	M	0.69248	2.105	0.31143	N	0.706402	D	0.89917	1.0	D	0.97110	1.0	T	0.42582	-0.9443	9	0.56958	D	0.05	.	6.4082	0.21676	0.0:0.8247:0.0:0.1753	.	581	Q9Y6R6	Z780B_HUMAN	R	581;433	ENSP00000391641:G581R;ENSP00000221355:G433R	ENSP00000221355:G433R	G	-	1	0	ZNF780B	45232865	0.000000	0.05858	0.017000	0.16124	0.602000	0.36980	0.958000	0.29227	0.214000	0.20742	0.462000	0.41574	GGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		70	472	0	0	0	1	0	70	472					T	40541025	C	T	40541025	3	4	18	1	0	0	0	0	1	0	0	0	18206	661	23	1	764	1	ZNF780B	19	40541025	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	568421	40541025	18587958	88	2248											
HIF3A	64344	broad.mit.edu	37	chr19	46834437	46834437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagagctcagaggaCgaggacgagggagtggagct	18	9	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:46834437C>T	ENST00000377670.4	+	13	1768	c.1737C>T	c.(1735-1737)gaC>gaT	p.D579D	HIF3A_ENST00000420102.2_Silent_p.D528D|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Silent_p.D510D|HIF3A_ENST00000339613.2_Silent_p.D523D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.D577D|HIF3A_ENST00000244303.6_Silent_p.D510D	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	579	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D577D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTCAGAGGACGAGGACGAGG	0.552																																						ENST00000339613.2																			1	Substitution - coding silent(1)	p.D577D(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1567-1569)gaC>gaT		hypoxia inducible factor 3, alpha subunit							82	67	72					19																	46834437		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46834437C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1737C>T	19.37:g.46834437C>T						HIF3A_ENST00000420102.2_Silent_p.D528D|HIF3A_ENST00000377670.4_Silent_p.D579D|HIF3A_ENST00000600383.1_Silent_p.D510D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.D577D|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Silent_p.D510D	p.D523D			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	13	1824	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	579			ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.1569C>T	CCDS12681.2																																																																																				0.552	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			37	149	0	0	0	1	0	37	149					T	46834437	C	T	46834437	2	4	18	1	0	0	0	0	0	0	0	1	7135	535	19	1		1	HIF3A	19	46834437	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	6293412	46834437	12294546	89	2249											
BCAT2	587	broad.mit.edu	37	chr19	49300574	49300574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctgttgcactaacaCggtgggcccataattcctgg	10	13	0	0	rs139881168		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:49300574C>T	ENST00000316273.6	-	7	724	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	BCAT2_ENST00000599246.1_Missense_Mutation_p.V146M|BCAT2_ENST00000545387.2_Missense_Mutation_p.V146M|BCAT2_ENST00000402551.1_Missense_Mutation_p.V198M|BCAT2_ENST00000598162.1_Missense_Mutation_p.V238M|BCAT2_ENST00000597011.1_Missense_Mutation_p.V198M	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	238					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TGCACTAACACGGTGGGCCCA	0.617																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(592-594)Gtg>Atg		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	C	MET/VAL,MET/VAL	0,4406		0,0,2203	74	59	64		436,712	5.1	0.5	19	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAT2	NM_001164773.1,NM_001190.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	146/301,238/393	49300574	1,13005	2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49300574C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.712G>A	19.37:g.49300574C>T	ENSP00000322991:p.Val238Met					BCAT2_ENST00000597011.1_Missense_Mutation_p.V198M|BCAT2_ENST00000598162.1_Missense_Mutation_p.V238M|BCAT2_ENST00000316273.6_Missense_Mutation_p.V238M|BCAT2_ENST00000545387.2_Missense_Mutation_p.V146M|BCAT2_ENST00000599246.1_Missense_Mutation_p.V146M	p.V198M			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	8	1212	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	238					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.592G>A	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928560	0.52759	0.0	1.16E-4	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.21543	2.0;2.0;2.0	5.06	5.06	0.68205	.	0.061208	0.64402	D	0.000005	T	0.31575	0.0801	L	0.35414	1.06	0.37282	D	0.907881	D;D;D;D	0.89917	0.999;1.0;0.976;1.0	D;D;P;D	0.68483	0.937;0.937;0.458;0.958	T	0.17379	-1.0371	10	0.87932	D	0	-16.3767	9.8608	0.41114	0.0:0.9059:0.0:0.094	.	198;238;146;238	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	M	238;146;198	ENSP00000322991:V238M;ENSP00000440973:V146M;ENSP00000385161:V198M	ENSP00000322991:V238M	V	-	1	0	BCAT2	53992386	0.991000	0.36638	0.476000	0.27291	0.493000	0.33554	2.602000	0.46257	2.523000	0.85059	0.491000	0.48974	GTG		0.617	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			22	94	0	0	0	1	0	22	94					T	49300574	C	T	49300574	3	4	18	1	0	0	0	0	1	0	0	0	1356	536	19	1	486	1	BCAT2	19	49300574	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2466137	49300574	9828409	90	2250											
KLK13	26085	broad.mit.edu	37	chr19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccctcttttgtgccgGcacacaacatgttgtcagtg	9	13	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000595547.1_Missense_Mutation_p.A131V|KLK13_ENST00000335422.3_Missense_Mutation_p.A52V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(610-612)gCc>gTc		kallikrein-related peptidase 13							212	191	198					19																	51561829		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51561829G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.611C>T	19.37:g.51561829G>A	ENSP00000470555:p.Ala204Val					KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	p.A204V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	4	653	-		all_neural(266;0.026)	204			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.611C>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960577	0.53400	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94966	-3.57	4.8	3.77	0.43336	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000229	D	0.96654	0.8908	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	1.0;0.895;0.999	D	0.95529	0.8601	10	0.32370	T	0.25	.	11.0896	0.48108	0.0906:0.0:0.9094:0.0	.	52;131;204	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	V	204;52	ENSP00000334079:A52V	ENSP00000156476:A204V	A	-	2	0	KLK13	56253641	1.000000	0.71417	0.890000	0.34922	0.139000	0.21198	5.936000	0.70153	1.393000	0.46605	-0.136000	0.14681	GCC		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		6	690	0	0	0	1	0	6	690					A	51561829	G	A	51561829	3	1	18	1	0	0	0	0	1	0	0	0	8431	1203	42	2	230	2	KLK13	19	51561829	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2261255	51561829	7567154	91	2251											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	378						7	378	---	---	---	---	-	54675749	TCC	-	54675747	7	5	18	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-2L-AAQE-01A-11D-A397-08	3113918	54675747	4453236	92	2252											
CHD6	84181	broad.mit.edu	37	chr20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaacgggaaatgatgcGgaactgtgtccagtcaaagg	13	8	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4444-4446)Cgc>Tgc		chromodomain helicase DNA binding protein 6							163	170	168					20																	40052243		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052243G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4444C>T	20.37:g.40052243G>A	ENSP00000362330:p.Arg1482Cys						p.R1482C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			30	4621	-		Myeloproliferative disorder(115;0.00425)	1482					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4444C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928613	0.92389	.	.	ENSG00000124177	ENST00000373233	D	0.94793	-3.52	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000007	D	0.97876	0.9302	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97909	1.0307	10	0.87932	D	0	-12.954	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1482	Q8TD26	CHD6_HUMAN	C	1482	ENSP00000362330:R1482C	ENSP00000362330:R1482C	R	-	1	0	CHD6	39485657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.405000	0.73272	2.884000	0.98904	0.655000	0.94253	CGC		0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	786	0	0	0	1	0	5	786					A	40052243	G	A	40052243	3	1	18	1	0	0	0	0	1	0	0	0	3338	1116	39	1	3735	1	CHD6	20	40052243	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		40052243	22973277	93	2253											
PTK6	5753	broad.mit.edu	37	chr20	62166328	62166328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcggcttctcgctgacCctgatcaggaaggcgcccgt	12	15	2	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:62166328C>T	ENST00000217185.2	-	2	342	c.315G>A	c.(313-315)agG>agA	p.R105R	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	105	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	TCTCGCTGACCCTGATCAGGA	0.692																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(313-315)agG>agA		protein tyrosine kinase 6							17	19	18					20																	62166328		2194	4291	6485	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62166328C>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.315G>A	20.37:g.62166328C>T						PTK6_ENST00000542869.1_Intron	p.R105R	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		2	342	-	all_cancers(38;2.51e-11)		105			SH2.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.315G>A	CCDS13524.1																																																																																				0.692	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			16	77	0	0	0	1	0	16	77					T	62166328	C	T	62166328	2	4	18	1	0	0	0	0	0	0	0	1	12812	622	22	2		2	PTK6	20	62166328	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	22114085	62166328	859192	94	2254											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	9	8	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85	81	83					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			5	312	0	0	0	1	0	5	312					G	30440001	A	G	30440001	3	3	18	1	0	0	0	0	1	0	0	0	2969	101	4	4	1437	4	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		30440001	17689894	95	2255											
TIAM1	7074	broad.mit.edu	37	chr21	32502539	32502539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagtttacctgcactcGccaaagctcgaacctgcagc	10	13	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:32502539G>A	ENST00000286827.3	-	26	4508	c.4037C>T	c.(4036-4038)gCg>gTg	p.A1346V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1286V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1346	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCTGCACTCGCCAAAGCTCG	0.473																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4036-4038)gCg>gTg		T-cell lymphoma invasion and metastasis 1							166	164	165					21																	32502539		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32502539G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4037C>T	21.37:g.32502539G>A	ENSP00000286827:p.Ala1346Val					TIAM1_ENST00000541036.1_Missense_Mutation_p.A1286V	p.A1346V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			26	4508	-			1346			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4037C>T	CCDS13609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.411603|2.411603	0.42817|0.42817	.|.	.|.	ENSG00000156299|ENSG00000156299	ENST00000286827;ENST00000541036|ENST00000423206	T;T|.	0.43294|.	0.95;0.96|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.249575|.	0.39544|.	N|.	0.001336|.	T|.	0.69495|.	0.3117|.	L|L	0.44542|0.44542	1.39|1.39	0.38497|0.38497	D|D	0.948125|0.948125	B;B;B|.	0.28971|.	0.229;0.016;0.147|.	B;B;B|.	0.27170|.	0.077;0.003;0.035|.	T|.	0.65055|.	-0.6261|.	10|.	0.46703|.	T|.	0.11|.	.|.	20.5666|20.5666	0.99351|0.99351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1286;1286;1346|.	F5GZ53;B7ZLR6;Q13009|.	.;.;TIAM1_HUMAN|.	V|X	1346;1286|1	ENSP00000286827:A1346V;ENSP00000441570:A1286V|.	ENSP00000286827:A1346V|.	A|R	-|-	2|1	0|2	TIAM1|TIAM1	31424410|31424410	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.291000|0.291000	0.27294|0.27294	7.077000|7.077000	0.76814|0.76814	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.473	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		6	733	0	0	0	1	0	6	733					A	32502539	G	A	32502539	3	1	18	1	0	0	0	0	1	0	0	0	15942	1087	38	1	754	1	TIAM1	21	32502539	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2062538	32502539	15627356	96	2256											
DOPEY2	9980	broad.mit.edu	37	chr21	37609569	37609569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtcccagagggtggctCgtgtgctttggaatcagctg	14	10	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:37609569C>T	ENST00000399151.3	+	16	2717	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	878					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGGTGGCTCGTGTGCTTTG	0.587																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2632-2634)Cgt>Tgt		dopey family member 2							89	77	81					21																	37609569		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37609569C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2632C>T	21.37:g.37609569C>T	ENSP00000382104:p.Arg878Cys						p.R878C	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			16	2717	+			878					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2632C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547731	0.45383	.	.	ENSG00000142197	ENST00000399151	T	0.67523	-0.27	5.3	5.3	0.74995	.	0.368606	0.30076	N	0.010472	T	0.56601	0.1996	L	0.36672	1.1	0.26838	N	0.968431	B	0.18461	0.028	B	0.10450	0.005	T	0.52442	-0.8575	10	0.48119	T	0.1	-8.3965	12.7613	0.57365	0.0:0.9152:0.0:0.0848	.	878	Q9Y3R5	DOP2_HUMAN	C	878	ENSP00000382104:R878C	ENSP00000382104:R878C	R	+	1	0	DOPEY2	36531439	0.604000	0.26932	0.983000	0.44433	0.978000	0.69477	5.633000	0.67825	2.489000	0.83994	0.591000	0.81541	CGT		0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		44	255	0	0	0	1	0	44	255					T	37609569	C	T	37609569	3	4	18	1	0	0	0	0	1	0	0	0	4724	884	31	1	2690	1	DOPEY2	21	37609569	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	5107030	37609569	10520326	97	2257											
ZNF280A	129025	broad.mit.edu	37	chr22	22869193	22869193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgctagacttgaaatGtctgtcattgccaggccaga	10	9	2	4			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr22:22869193G>A	ENST00000302097.3	-	2	1014	c.762C>T	c.(760-762)gaC>gaT	p.D254D	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACTTGAAATGTCTGTCATTG	0.408																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(760-762)gaC>gaT		zinc finger protein 280A							127	115	119					22																	22869193		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869193G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.762C>T	22.37:g.22869193G>A							p.D254D	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1014	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	254						Silent	SNP	ENST00000302097.3	37	c.762C>T	CCDS13800.1																																																																																				0.408	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		105	286	0	0	0	1	0	105	286					A	22869193	G	A	22869193	2	1	18	1	0	0	0	0	0	0	0	1	17867	1368	48	2		2	ZNF280A	22	22869193	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		22869193	28435373	98	2258											
MAGEB2	4113	broad.mit.edu	37	chrX	30237553	30237553	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctatgctgaaaccagcaagAtgaaagtcctggagtttttg	10	8	0	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:30237553A>T	ENST00000378988.4	+	2	957	c.856A>T	c.(856-858)Atg>Ttg	p.M286L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	286	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AACCAGCAAGATGAAAGTCCT	0.507																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(856-858)Atg>Ttg		melanoma antigen family B, 2							48	48	48					X																	30237553		2202	4299	6501	SO:0001583	missense	4113						protein binding	g.chrX:30237553A>T	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.856A>T	X.37:g.30237553A>T	ENSP00000368273:p.Met286Leu						p.M286L	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	957	+			286			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.856A>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.768852	0.69878	.	.	ENSG00000099399	ENST00000378988	T	0.05025	3.51	3.27	-0.453	0.12201	.	0.242459	0.43579	D	0.000556	T	0.11922	0.0290	M	0.80183	2.485	0.09310	N	1	P	0.35982	0.531	P	0.44422	0.449	T	0.09796	-1.0658	10	0.66056	D	0.02	.	5.7074	0.17915	0.5317:0.0:0.4683:0.0	.	286	O15479	MAGB2_HUMAN	L	286	ENSP00000368273:M286L	ENSP00000368273:M286L	M	+	1	0	MAGEB2	30147474	0.001000	0.12720	0.000000	0.03702	0.922000	0.55478	0.354000	0.20146	-0.185000	0.10550	0.356000	0.21956	ATG		0.507	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		20	71	0	0	0	1	0	20	71					T	30237553	A	T	30237553	3	4	18	1	0	0	0	0	1	0	0	0	9217	333	12	5	858	5	MAGEB2	23	30237553	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		30237553	125033007	99	2259											
KDM6A	7403	broad.mit.edu	37	chrX	44911012	44911030	+	Frame_Shift_Del	DEL	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	-													tttgcagacagagaatctttCtgcacaagtaaaagcaactg					rs151193716		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:44911012_44911030delCTGCACAAGTAAAAGCAAC	ENST00000377967.4	+	9	754_772	c.713_731delCTGCACAAGTAAAAGCAAC	c.(712-732)tctgcacaagtaaaagcaactfs	p.SAQVKAT238fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.SAQVKAT238fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	238	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAGAATCTTTCTGCACAAGTAAAAGCAACTGTCTTACAA	0.32			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		10	Whole gene deletion(6)|No detectable mRNA/protein(4)	p.0?(6)|p.0(4)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(712-732)ttfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44911012_44911030delCTGCACAAGTAAAAGCAAC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.713_731delCTGCACAAGTAAAAGCAAC	X.37:g.44911012_44911030delCTGCACAAGTAAAAGCAAC	ENSP00000367203:p.Ser238fs					KDM6A_ENST00000536777.1_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.SAQVKAT238fs	p.SAQVKAT238fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			9	754_772	+			238					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.713_731delCTGCACAAGTAAAAGCAAC	CCDS14265.1																																																																																				0.32	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		21	82						21	82	---	---	---	---	-	44911030	CTGCACAAGTAAAAGCAAC	-	44911012	7	5	18	1	0	1	0	1	0	0	0	0	8167	913	32	0	747	0	KDM6A	23	44911012	Frame_Shift_Del	DEL	CTGCACAAGTAAAAGCAAC	TCGA-2L-AAQE-01A-11D-A397-08	14673459	44911012	110359548	100	2260											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	25						7	25	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	18	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-2L-AAQE-01A-11D-A397-08	6328284	51239296	104031264	101	2261											
MAGEE2	139599	broad.mit.edu	37	chrX	75004114	75004114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctttgtgatttccctgTgggctctagagccccacaag	9	13	2	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:75004114T>C	ENST00000373359.2	-	1	965	c.773A>G	c.(772-774)cAc>cGc	p.H258R		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	258	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATTTCCCTGTGGGCTCTAGA	0.498																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(772-774)cAc>cGc		melanoma antigen family E, 2							60	59	59					X																	75004114		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004114T>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.773A>G	X.37:g.75004114T>C	ENSP00000362457:p.His258Arg						p.H258R	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	965	-			258			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.773A>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869554	0.17322	.	.	ENSG00000186675	ENST00000373359	T	0.04654	3.58	3.1	0.589	0.17452	.	.	.	.	.	T	0.05227	0.0139	L	0.60455	1.87	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.41716	-0.9493	9	0.33940	T	0.23	.	2.0976	0.03672	0.2592:0.1513:0.0:0.5895	.	258	Q8TD90	MAGE2_HUMAN	R	258	ENSP00000362457:H258R	ENSP00000362457:H258R	H	-	2	0	MAGEE2	74920839	0.685000	0.27652	0.009000	0.14445	0.688000	0.40055	0.561000	0.23515	0.015000	0.14971	0.345000	0.21793	CAC		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		49	172	0	0	0	1	0	49	172					C	75004114	T	C	75004114	3	2	18	1	0	0	0	0	1	0	0	0	9227	1696	59	4	802	4	MAGEE2	23	75004114	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	23764818	75004114	80266446	102	2262											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	289						8	289	---	---	---	---	-	76907784	TCC	-	76907782	7	5	18	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-2L-AAQE-01A-11D-A397-08	1903668	76907782	78362778	103	2263											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	203						7	203	---	---	---	---	-	149639635	GCA	-	149639633	7	5	18	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2L-AAQE-01A-11D-A397-08	72731851	149639633	5630927	104	2264											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	227	0	0	0	1	0	5	227					A	150156360	G	A	150156360	2	1	18	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	516727	150156360	5114200	105	2265											
MECP2	4204	broad.mit.edu	37	chrX	153363100	153363102	+	5'UTR	DEL	GCG	GCG	-													ctcctcctcctccgctcggcGcggcggcggcggcggcggcc					rs587783129		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:153363100_153363102delGCG	ENST00000303391.6	-	0	110_112				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_In_Frame_Del_p.7_8AA>A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(19-24)gcg>gc		methyl CpG binding protein 2 (Rett syndrome)			,	87,803		9,38,31,307,151					,	4	1			5	256,2106		24,107,101,720,559	no	utr-5,coding	MECP2	NM_004992.3,NM_001110792.1	,	33,145,132,1027,710	A1A1,A1R,A1,RR,R		10.8383,9.7753,10.5474	,	,		343,2909				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363100_153363102delGCG	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-140CGC>-	X.37:g.153363109_153363111delGCG						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.AA7del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	75_77	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.21_23delCGC	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		7	62						7	62	---	---	---	---	-	153363102	GCG	-	153363100	6	5	18	0	1	1	0	1	0	0	0	0	9464	1087	38	0		0	MECP2	23	153363100	5'UTR	DEL	GCG	TCGA-2L-AAQE-01A-11D-A397-08	3206740	153363100	1907460	106	2266											
CTRC	11330	broad.mit.edu	37	chr1	15769925	15769925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattccagcaatgatattgCcctcatcaagcttgcagagc	9	11	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:15769925C>T	ENST00000375949.4	+	5	394	c.368C>T	c.(367-369)gCc>gTc	p.A123V	CTRC_ENST00000375943.2_Missense_Mutation_p.P60S|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATGATATTGCCCTCATCAAG	0.592																																						ENST00000375943.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13						c.(178-180)Ccc>Tcc		chymotrypsin C (caldecrin)							227	217	221					1																	15769925		2203	4300	6503	SO:0001583	missense	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15769925C>T	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.368C>T	1.37:g.15769925C>T	ENSP00000365116:p.Ala123Val					CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375949.4_Missense_Mutation_p.A123V	p.P60S			Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	201	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	0			Peptidase S1.		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	c.178C>T	CCDS156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.9|26.9	4.783551|4.783551	0.90282|0.90282	.|.	.|.	ENSG00000162438|ENSG00000162438	ENST00000375949|ENST00000375943	D|.	0.97941|.	-4.62|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85066|0.85066	0.5612|0.5612	M|M	0.91717|0.91717	3.235|3.235	0.42584|0.42584	D|D	0.993226|0.993226	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.88780|0.88780	0.3270|0.3270	10|6	0.87932|0.87932	D|D	0|0	-50.5833|-50.5833	16.8963|16.8963	0.86101|0.86101	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;123|.	A8MTQ9;Q99895|.	.;CTRC_HUMAN|.	V|S	123|60	ENSP00000365116:A123V|.	ENSP00000365116:A123V|ENSP00000365110:P60S	A|P	+|+	2|1	0|0	CTRC|CTRC	15642512|15642512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	7.562000|7.562000	0.82300|0.82300	2.576000|2.576000	0.86940|0.86940	0.549000|0.549000	0.68633|0.68633	GCC|CCC		0.592	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		7	1215	0	0	0	1	0	7	1215					T	15769925	C	T	15769925	3	4	19	1	0	0	0	0	1	0	0	0	4038	739	26	2	386	2	CTRC	1	15769925	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		15769925	233480696	1	2267											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G													ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		10	331						10	331	---	---	---	---	G	112524445	-	G	112524444	7	5	19	1	0	1	1	0	0	0	0	0	8050	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	96754519	112524444	136726177	2	2268											
SYCP1	6847	broad.mit.edu	37	chr1	115469133	115469134	+	Frame_Shift_Ins	INS	-	-	A													tttaacagaataaggccttgINSaaaaaaaaaggtacagcaga							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:115469133_115469134insA	ENST00000369522.3	+	23	2115_2116	c.1875_1876insA	c.(1876-1878)aaafs	p.K626fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K626fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	626					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGGCCTTGAAAAAAAAAGG	0.267																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1873-1878)ttaaaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469133_115469134insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1884dupA	1.37:g.115469142_115469142dupA	ENSP00000358535:p.Lys626fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs	p.LK625fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2115_2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	625					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.1875_1876insA	CCDS879.1																																																																																				0.267	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		7	172						7	172	---	---	---	---	A	115469134	-	A	115469133	7	5	19	1	0	1	1	0	0	0	0	0	15483	1281	45	0	1961	0	SYCP1	1	115469133	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	2944689	115469133	133781488	3	2269											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	878	0	0	0	1	0	7	878					A	144825409	G	A	144825409	3	1	19	1	0	0	0	0	1	0	0	0	10241	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	29356276	144825409	104425212	4	2270	14	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	939	1	0	0.0215528	1	0.0218239	7	939					T	144825416	G	T	144825416	3	4	19	1	0	0	0	0	1	0	0	0	10241	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7	144825416	104425205	5	2271	14	2									
FLG	2312	broad.mit.edu	37	chr1	152281106	152281106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtccagagctttcccctgact	10	12	0	5	rs146352383		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:152281106G>A	ENST00000368799.1	-	3	6291	c.6256C>T	c.(6256-6258)Cgt>Tgt	p.R2086C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2086	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.R2086C(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)			GACCCTGAACGTCCAGAGCTT	0.562									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R2086C(1)	pancreas(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						c.(6256-6258)Cgt>Tgt		filaggrin		G	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	303	241	262		6256	0.8	0	1	dbSNP_134	262	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	180	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	2086/4062	152281106	5,13001	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.chr1:152281106G>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.6256C>T	1.37:g.152281106G>A	ENSP00000357789:p.Arg2086Cys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2086C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6291	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2086			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6256C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.630	-0.075737	0.07184	0.001135	0.0	ENSG00000143631	ENST00000368799	T	0.01745	4.66	1.8	0.774	0.18521	.	.	.	.	.	T	0.01695	0.0054	M	0.75447	2.3	0.09310	N	1	D	0.69078	0.997	P	0.52598	0.703	T	0.45234	-0.9275	9	0.46703	T	0.11	.	5.1112	0.14809	0.0:0.0:0.6526:0.3474	.	2086	P20930	FILA_HUMAN	C	2086	ENSP00000357789:R2086C	ENSP00000357789:R2086C	R	-	1	0	FLG	150547730	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.273000	0.18662	0.285000	0.22329	0.485000	0.47835	CGT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	990	0	0	0	1	0	7	990					A	152281106	G	A	152281106	3	1	19	1	0	0	0	0	1	0	0	0	5947	1145	40	1	5933	1	FLG	1	152281106	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7455690	152281106	96969515	6	2272											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	240	0	0	0	1	0	5	240					T	153907309	C	T	153907309	2	4	19	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	1626203	153907309	95343312	7	2273											
RIT1	6016	broad.mit.edu	37	chr1	155870301	155870301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcctacgtatctcccGtacaagggcatggaaaacat	7	11	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:155870301G>A	ENST00000368323.3	-	6	742	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RIT1_ENST00000368322.3_Missense_Mutation_p.R197W|RIT1_ENST00000539040.1_Missense_Mutation_p.R144W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	180					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CGTATCTCCCGTACAAGGGCA	0.453																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(538-540)Cgg>Tgg		Ras-like without CAAX 1							243	240	241					1																	155870301		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870301G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.538C>T	1.37:g.155870301G>A	ENSP00000357306:p.Arg180Trp					RIT1_ENST00000539040.1_Missense_Mutation_p.R144W|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.R197W	p.R180W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	742	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		180					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.538C>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480244	0.84747	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.79454	-1.27;-1.27;-1.27	5.8	4.81	0.61882	.	0.000000	0.64402	D	0.000003	D	0.91566	0.7336	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93734	0.7044	10	0.87932	D	0	.	17.2593	0.87065	0.0:0.0:0.8659:0.1341	.	180	Q92963	RIT1_HUMAN	W	180;144;197	ENSP00000357306:R180W;ENSP00000441950:R144W;ENSP00000357305:R197W	ENSP00000357305:R197W	R	-	1	2	RIT1	154136925	1.000000	0.71417	0.961000	0.40146	0.957000	0.61999	5.200000	0.65158	2.746000	0.94184	0.591000	0.81541	CGG		0.453	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		6	831	0	0	0	1	0	6	831					A	155870301	G	A	155870301	3	1	19	1	0	0	0	0	1	0	0	0	13436	1144	40	1	125	1	RIT1	1	155870301	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	1962992	155870301	93380320	8	2274											
APOA1BP	128240	broad.mit.edu	37	chr1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-													agccaaccatctattaccccAaaaggcctaacaagcccctc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(430-432)aafs		apolipoprotein A-I binding protein							171	172	172					1																	156562376		2203	4300	6503	SO:0001589	frameshift_variant	128240					extracellular region	protein binding	g.chr1:156562376delA	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.430delA	1.37:g.156562376delA	ENSP00000357218:p.Lys144fs					APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs	p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			4	473	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		144			YjeF N-terminal.			Frame_Shift_Del	DEL	ENST00000368235.3	37	c.430delA	CCDS1145.1																																																																																				0.567	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	1194						7	1194	---	---	---	---	-	156562376	A	-	156562376	7	5	19	1	0	1	0	1	0	0	0	0	781	131	5	0	444	0	APOA1BP	1	156562376	Frame_Shift_Del	DEL	A	TCGA-2L-AAQI-01A-12D-A397-08	692075	156562376	92688245	9	2275											
NES	10763	broad.mit.edu	37	chr1	156641485	156641485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaggttctcttgtcccGcagacttcagtgattctagg	9	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:156641485G>A	ENST00000368223.3	-	4	2627	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	832	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)			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)					CTCTTGTCCCGCAGACTTCAG	0.413																																						ENST00000368223.3																			0				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						c.(2494-2496)gCg>gTg		nestin							118	113	115					1																	156641485		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641485G>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.2495C>T	1.37:g.156641485G>A	ENSP00000357206:p.Ala832Val						p.A832V	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2627	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		832			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2495C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868932	0.51588	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	5.68	-1.11	0.09840	.	0.494478	0.15171	N	0.276645	T	0.52208	0.1720	L	0.38838	1.175	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.36040	-0.9764	10	0.35671	T	0.21	.	1.1534	0.01790	0.3298:0.2257:0.3163:0.1282	.	832	P48681	NEST_HUMAN	V	832	ENSP00000357206:A832V	ENSP00000357206:A832V	A	-	2	0	NES	154908109	0.000000	0.05858	0.001000	0.08648	0.305000	0.27757	-0.007000	0.12810	0.332000	0.23536	0.563000	0.77884	GCG		0.413	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		8	785	0	0	0	1	0	8	785					A	156641485	G	A	156641485	3	1	19	1	0	0	0	0	1	0	0	0	10379	1087	38	1	2374	1	NES	1	156641485	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	79109	156641485	92609136	10	2276											
NHLH1	4807	broad.mit.edu	37	chr1	160340909	160340909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctcctacctgaaccacGtgctggacgtctgaactcag	8	13	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:160340909G>A	ENST00000302101.5	+	2	834	c.388G>A	c.(388-390)Gtg>Atg	p.V130M		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	130					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGAACCACGTGCTGGACGT	0.622																																						ENST00000302101.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(388-390)Gtg>Atg		nescient helix loop helix 1							79	79	79					1																	160340909		2203	4300	6503	SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340909G>A	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"Basic helix-loop-helix proteins"	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.388G>A	1.37:g.160340909G>A	ENSP00000302189:p.Val130Met						p.V130M	NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	834	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		130						Missense_Mutation	SNP	ENST00000302101.5	37	c.388G>A	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857019	0.51376	.	.	ENSG00000171786	ENST00000302101	D	0.88509	-2.39	3.98	3.98	0.46160	Helix-loop-helix DNA-binding (3);	0.000000	0.49305	D	0.000146	T	0.73713	0.3622	L	0.47190	1.495	0.58432	D	0.999997	P	0.41569	0.755	B	0.21360	0.034	T	0.77838	-0.2439	10	0.33940	T	0.23	-29.3292	15.1633	0.72801	0.0:0.0:1.0:0.0	.	130	Q02575	HEN1_HUMAN	M	130	ENSP00000302189:V130M	ENSP00000302189:V130M	V	+	1	0	NHLH1	158607533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.477000	0.73591	2.215000	0.71742	0.655000	0.94253	GTG		0.622	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		48	277	0	0	0	1	0	48	277					A	160340909	G	A	160340909	3	1	19	1	0	0	0	0	1	0	0	0	10445	1145	40	1	390	1	NHLH1	1	160340909	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3699424	160340909	88909712	11	2277											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	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	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	777						7	777	---	---	---	---	-	212115193	TGC	-	212115191	7	5	19	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-2L-AAQI-01A-12D-A397-08	51774282	212115191	37135430	12	2278											
PTPN14	5784	broad.mit.edu	37	chr1	214557727	214557727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaggggtgcctctcccGcatctccggttggctgtaca	13	12	2	0	rs138557012	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:214557727G>A	ENST00000366956.5	-	13	1665	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTCTCCCGCATCTCCGGT	0.527													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18704	0.0		0.002	False		,,,				2504	0.0				Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1471-1473)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	145	153	151		1471	3.5	1	1	dbSNP_134	151	14,8586	9.8+/-36.6	0,14,4286	yes	missense	PTPN14	NM_005401.4	101	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging	491/1188	214557727	16,12990	2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557727G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1471C>T	1.37:g.214557727G>A	ENSP00000355923:p.Arg491Trp					PTPN14_ENST00000543945.1_3'UTR	p.R491W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1665	-			491					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1471C>T	CCDS1514.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.68	3.450452	0.63290	4.54E-4	0.001628	ENSG00000152104	ENST00000366956	T	0.71103	-0.54	5.49	3.53	0.40419	.	0.114078	0.64402	D	0.000018	T	0.80476	0.4630	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.83306	-0.0025	10	0.87932	D	0	.	14.7421	0.69464	0.0:0.0:0.6283:0.3717	.	491	Q15678	PTN14_HUMAN	W	491	ENSP00000355923:R491W	ENSP00000355923:R491W	R	-	1	2	PTPN14	212624350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.604000	0.36804	1.295000	0.44724	0.650000	0.86243	CGG		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	804	0	0	0	1	0	7	804					A	214557727	G	A	214557727	3	1	19	1	0	0	0	0	1	0	0	0	12831	1086	38	1	2120	1	PTPN14	1	214557727	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	2442536	214557727	34692894	13	2279											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		7	842	0	0	0	1	0	7	842					T	223176649	C	T	223176649	3	4	19	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	8618922	223176649	26073972	14	2280											
KIAA1804	84451	broad.mit.edu	37	chr1	233514924	233514924	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacggagtcagctctgtaTgggtgcaccgtccttctggc	12	11	3	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:233514924T>G	ENST00000366624.3	+	9	2433	c.2172T>G	c.(2170-2172)taT>taG	p.Y724*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Y170*	NM_032435.2	NP_115811.2																					CAGCTCTGTATGGGTGCACCG	0.537																																						ENST00000366624.3																			0											c.(2170-2172)taT>taG									73	79	77					1																	233514924		2203	4300	6503	SO:0001587	stop_gained	0							g.chr1:233514924T>G																												ENST00000366624.3:c.2172T>G	1.37:g.233514924T>G	ENSP00000355583:p.Tyr724*					MLK4_ENST00000366622.1_Nonsense_Mutation_p.Y170*	p.Y724*	NM_032435.2	NP_115811.2					9	2433	+									Nonsense_Mutation	SNP	ENST00000366624.3	37	c.2172T>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	33	5.246845	0.95305	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.94	-9.89	0.00464	.	0.157373	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6556	0.68831	0.0:0.1289:0.0857:0.7855	.	.	.	.	X	724;170	.	ENSP00000355581:Y170X	Y	+	3	2	RP5-862P8.2	231581547	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.655000	0.01982	-2.274000	0.00680	-0.976000	0.02587	TAT		0.537	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			42	290	0	0	0	1	0	42	290					G	233514924	T	G	233514924	4	3	19	1	0	0	0	0	0	1	0	0	8289	1471	51	4	2206	4	KIAA1804	1	233514924	Nonsense_Mutation	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	10338275	233514924	15735697	15	2281											
OR2M2	391194	broad.mit.edu	37	chr1	248344094	248344094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctgatcactccccaacGcaggacaagatggtgtctgt	9	12	3	2	rs140026971	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:248344094G>A	ENST00000359682.2	+	1	807	c.807G>A	c.(805-807)acG>acA	p.T269T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T269T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTCCCCAACGCAGGACAAGA	0.502																																						ENST00000359682.2																			1	Substitution - coding silent(1)	p.T269T(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(805-807)acG>acA		olfactory receptor, family 2, subfamily M, member 2		G		3,4403	6.2+/-15.9	0,3,2200	207	185	192		807	-4.1	0	1	dbSNP_134	192	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR2M2	NM_001004688.1		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		269/348	248344094	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344094G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.807G>A	1.37:g.248344094G>A							p.T269T	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	807	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		269					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.807G>A	CCDS31106.1																																																																																				0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		107	680	0	0	0	1	0	107	680					A	248344094	G	A	248344094	2	1	19	1	0	0	0	0	0	0	0	1	11052	1074	38	1		1	OR2M2	1	248344094	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14829170	248344094	906527	16	2282											
TEKT4	150483	broad.mit.edu	37	chr2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G													accgaggtgcaggctcatccINSgtactccaccaccttccaag					rs149873671		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																						ENST00000295201.4																			1	Substitution - coding silent(1)	p.P230P(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(688-690)ctafs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L230fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	826_827	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	478						7	478	---	---	---	---	G	95539830	-	G	95539829	7	5	19	1	0	1	1	0	0	0	0	0	15807	652	23	0	699	0	TEKT4	2	95539829	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08		95539829	147659544	17	2283											
FKBP7	65977	broad.mit.edu	37	chr2	179343217	179343217	+	5'Flank	DEL	T	T	-													tctgaataagaaatgcatggTttttggcatcggctccagca							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113	133	127					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		7	1010						7	1010	---	---	---	---	-	179343217	T	-	179343217	6	5	19	0	1	1	0	1	0	0	0	0	5938	1725	60	0		0	FKBP7	2	179343217	5'Flank	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	83803388	179343217	63856156	18	2284											
IKZF2	22807	broad.mit.edu	37	chr2	213872107	213872107	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaatgtgtgctcccctcGaacaatgtgtgatgaaaact	11	8	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:213872107G>A	ENST00000434687.1	-	9	1867	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	520					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTCCCCTCGAACAATGTGT	0.483																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1558-1560)Cga>Tga		IKAROS family zinc finger 2 (Helios)							105	97	100					2																	213872107		2203	4300	6503	SO:0001587	stop_gained	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872107G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1558C>T	2.37:g.213872107G>A	ENSP00000412869:p.Arg520*					IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*	p.R520*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1726	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	520					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	c.1558C>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623235	0.96660	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	.	.	.	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7304	19.7738	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	X	520;526;520;494;448;446;375;224	.	ENSP00000342876:R526X	R	-	1	2	IKZF2	213580352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.894000	0.87336	2.672000	0.90937	0.655000	0.94253	CGA		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		35	269	0	0	0	1	0	35	269					A	213872107	G	A	213872107	4	1	19	1	0	0	0	0	0	1	0	0	7645	1066	37	1	26	1	IKZF2	2	213872107	Nonsense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	34528890	213872107	29327266	19	2285											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000248451.3_5'Flank|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		10	1959						10	1959	---	---	---	---	-	219134766	G	-	219134766	7	5	19	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-2L-AAQI-01A-12D-A397-08	5262659	219134766	24064607	20	2286											
UGT1A10	54575	broad.mit.edu	37	chr2	234545974	234545974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacccgtgatgcccaacaTgatcttcattggtggtatca	8	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:234545974T>G	ENST00000344644.5	+	1	875	c.806T>G	c.(805-807)aTg>aGg	p.M269R	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	269					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	ATGCCCAACATGATCTTCATT	0.433																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(805-807)aTg>aGg									217	210	212					2																	234545974		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545974T>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.806T>G	2.37:g.234545974T>G	ENSP00000343838:p.Met269Arg					UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R|UGT1A8_ENST00000373450.4_Intron	p.M269R	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	875	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.806T>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046766	0.55110	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61859	0.07;0.07	3.56	3.56	0.40772	.	.	.	.	.	T	0.80869	0.4706	H	0.95816	3.725	0.36481	D	0.867853	D;D	0.61697	0.961;0.99	P;D	0.67725	0.908;0.953	D	0.88685	0.3205	9	0.87932	D	0	.	12.6049	0.56516	0.0:0.0:0.0:1.0	.	269;269	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	R	269	ENSP00000343838:M269R;ENSP00000362544:M269R	ENSP00000343838:M269R	M	+	2	0	UGT1A10	234210713	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	4.888000	0.63164	1.632000	0.50472	0.333000	0.21579	ATG		0.433	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		7	1211	0	0	0	1	0	7	1211					G	234545974	T	G	234545974	3	3	19	1	0	0	0	0	1	0	0	0	16999	1464	51	4	808	4	UGT1A10	2	234545974	Missense_Mutation	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	15411208	234545974	8653399	21	2287											
SLC6A1	6529	broad.mit.edu	37	chr3	11064024	11064024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccactgtttgaccaggcGcaacatgcatcagatgacgg	10	13	1	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:11064024G>A	ENST00000287766.4	+	7	1005	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTGACCAGGCGCAACATGCAT	0.597																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(583-585)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						69	60	63					3																	11064024		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11064024G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.584G>A	3.37:g.11064024G>A	ENSP00000287766:p.Arg195His					SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H	p.R195H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	7	1005	+		Ovarian(110;0.0392)	195					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.584G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572459	0.65765	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77489	-1.1;-1.1	5.02	4.15	0.48705	.	0.074293	0.56097	N	0.000023	T	0.74876	0.3774	M	0.73372	2.23	0.80722	D	1	P	0.39665	0.682	B	0.35859	0.212	T	0.76699	-0.2863	10	0.48119	T	0.1	.	13.6297	0.62188	0.0746:0.0:0.9254:0.0	.	195	P30531	SC6A1_HUMAN	H	195;17	ENSP00000287766:R195H;ENSP00000445171:R17H	ENSP00000287766:R195H	R	+	2	0	SLC6A1	11039024	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.479000	0.66813	1.340000	0.45581	0.561000	0.74099	CGC		0.597	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		4	118	0	0	0	1	0	4	118					A	11064024	G	A	11064024	3	1	19	1	0	0	0	0	1	0	0	0	14723	1087	38	1	602	1	SLC6A1	3	11064024	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		11064024	186958406	22	2288											
FYCO1	79443	broad.mit.edu	37	chr3	46021250	46021250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggctcctttcaccttggCcaggcaggcacagaagtaat	10	11	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:46021250C>T	ENST00000296137.2	-	4	440	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	79	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCACCTTGGCCAGGCAGGCA	0.517																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(235-237)Gcc>Acc		FYVE and coiled-coil domain containing 1							190	167	175					3																	46021250		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021250C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.235G>A	3.37:g.46021250C>T	ENSP00000296137:p.Ala79Thr					FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T	p.A79T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	440	-			79			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.235G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075950	0.94000	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.30182	1.54;1.54	5.6	5.6	0.85130	RUN (2);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.53249	1.67	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.52675	-0.8544	10	0.87932	D	0	-20.7471	17.7942	0.88565	0.0:1.0:0.0:0.0	.	79;79	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	T	79	ENSP00000296137:A79T;ENSP00000441178:A79T	ENSP00000296137:A79T	A	-	1	0	FYCO1	45996254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.591000	0.61019	2.641000	0.89580	0.585000	0.79938	GCC		0.517	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	412	0	0	0	1	0	5	412					T	46021250	C	T	46021250	3	4	19	1	0	0	0	0	1	0	0	0	6152	739	26	2	4261	2	FYCO1	3	46021250	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	34957226	46021250	152001180	23	2289											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	292						9	292	---	---	---	---	-	49094316	TGC	-	49094314	7	5	19	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-2L-AAQI-01A-12D-A397-08	3073064	49094314	148928116	24	2290											
SFMBT1	51460	broad.mit.edu	37	chr3	52939159	52939159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttgtccttctcagttgGcaaactgctcataaaaagca	8	9	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:52939159G>A	ENST00000394752.3	-	21	2976	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	865					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCTCAGTTGGCAAACTGCTC	0.448																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2593-2595)gCc>gTc		Scm-like with four mbt domains 1							119	108	111					3																	52939159		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939159G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2594C>T	3.37:g.52939159G>A	ENSP00000378235:p.Ala865Val					SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V	p.A865V	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	21	2976	-			865					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2594C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394423	0.96009	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.26957	1.7;1.7;2.19;1.7	6.16	6.16	0.99307	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.66196	0.942;0.877	T	0.20174	-1.0283	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	822;865	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	V	865;865;822;865	ENSP00000378235:A865V;ENSP00000350789:A865V;ENSP00000296295:A822V;ENSP00000378233:A865V	ENSP00000296295:A822V	A	-	2	0	SFMBT1	52914199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCC		0.448	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		5	529	0	0	0	1	0	5	529					A	52939159	G	A	52939159	3	1	19	1	0	0	0	0	1	0	0	0	14207	1203	42	2	10	2	SFMBT1	3	52939159	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3844845	52939159	145083271	25	2291											
CACNA2D3	55799	broad.mit.edu	37	chr3	54604065	54604065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggactccgtctgactatCgcgaagcaaacagtctcatc	8	12	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:54604065C>T	ENST00000474759.1	+	8	870	c.822C>T	c.(820-822)atC>atT	p.I274I	CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I|CACNA2D3_ENST00000415676.2_Silent_p.I274I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	274	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GTCTGACTATCGCGAAGCAAA	0.463																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(820-822)atC>atT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							182	176	178					3																	54604065		2016	4184	6200	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604065C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.822C>T	3.37:g.54604065C>T						CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I	p.I274I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	8	870	+			274			VWFA.		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.822C>T	CCDS54598.1																																																																																				0.463	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			91	582	0	0	0	1	0	91	582					T	54604065	C	T	54604065	2	4	19	1	0	0	0	0	0	0	0	1	2557	874	31	1		1	CACNA2D3	3	54604065	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	1664906	54604065	143418365	26	2292											
GPR128	84873	broad.mit.edu	37	chr3	100365534	100365534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggattcctgcgctgccGctgcaaccatactactaatt	8	12	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:100365534G>A	ENST00000273352.3	+	10	1500	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Missense_Mutation_p.R116H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	411	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTGCGCTGCCGCTGCAACCAT	0.418																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1231-1233)cGc>cAc		G protein-coupled receptor 128							84	87	86					3																	100365534		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365534G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1232G>A	3.37:g.100365534G>A	ENSP00000273352:p.Arg411His					GPR128_ENST00000475887.1_Missense_Mutation_p.R116H	p.R411H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1500	+			411			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1232G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458386	0.12342	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.68903	-0.36;-0.36	5.2	-5.95	0.02241	GPS domain (3);	1.462570	0.03975	N	0.292354	T	0.42743	0.1216	N	0.05280	-0.08	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.10450	0.005;0.003	T	0.31696	-0.9934	10	0.19590	T	0.45	.	12.4177	0.55502	0.6298:0.0:0.3702:0.0	.	116;411	E9PHI0;Q96K78	.;GP128_HUMAN	H	411;116	ENSP00000273352:R411H;ENSP00000419788:R116H	ENSP00000273352:R411H	R	+	2	0	GPR128	101848224	0.000000	0.05858	0.502000	0.27614	0.494000	0.33585	-1.805000	0.01737	-0.996000	0.03455	-0.940000	0.02684	CGC		0.418	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	294	0	0	0	1	0	5	294					A	100365534	G	A	100365534	3	1	19	1	0	0	0	0	1	0	0	0	6670	1087	38	1	1270	1	GPR128	3	100365534	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	45761469	100365534	97656896	27	2293											
C3orf27	23434	broad.mit.edu	37	chr3	128292432	128292432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccacaatgcctagaagCttccaaccaccctggcccag	7	18	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:128292432C>T	ENST00000356020.2	-	3	1107	c.141G>A	c.(139-141)aaG>aaA	p.K47K		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	47										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGCCTAGAAGCTTCCAACCAC	0.627																																						ENST00000356020.2																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(139-141)aaG>aaA		chromosome 3 open reading frame 27							43	47	45					3																	128292432		2203	4300	6503	SO:0001819	synonymous_variant	23434							g.chr3:128292432C>T	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.141G>A	3.37:g.128292432C>T							p.K47K	NM_007354.2	NP_031380.1	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	1107	-			47						Silent	SNP	ENST00000356020.2	37	c.141G>A	CCDS3050.1																																																																																				0.627	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		35	210	0	0	0	1	0	35	210					T	128292432	C	T	128292432	2	4	19	1	0	0	0	0	0	0	0	1	2226	796	28	2		2	C3orf27	3	128292432	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	27926898	128292432	69729998	28	2294											
MED12L	116931	broad.mit.edu	37	chr3	150908624	150908624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtaccctcatatctcgagGagatttgtcagtcactgcct	9	11	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:150908624G>A	ENST00000474524.1	+	13	1912	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000422248.2_Missense_Mutation_p.G625E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	625						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATCTCGAGGAGATTTGTCA	0.488																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1873-1875)gGa>gAa		mediator complex subunit 12-like							134	112	119					3																	150908624		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908624G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1874G>A	3.37:g.150908624G>A	ENSP00000417235:p.Gly625Glu					MED12L_ENST00000422248.2_Missense_Mutation_p.G625E|MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E	p.G625E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1912	+			625					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1874G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068595	0.93950	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.57	5.57	0.84162	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.88775	2.98	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;0.999;0.999	D	0.85845	0.1400	10	0.87932	D	0	-16.4504	19.5175	0.95170	0.0:0.0:1.0:0.0	.	485;625;625;625	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	E	625;625;625;485	ENSP00000403308:G625E;ENSP00000310760:G625E;ENSP00000417235:G625E;ENSP00000273432:G485E	ENSP00000273432:G485E	G	+	2	0	MED12L	152391314	1.000000	0.71417	0.793000	0.32043	0.899000	0.52679	8.888000	0.92464	2.780000	0.95670	0.655000	0.94253	GGA		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		29	221	0	0	0	1	0	29	221					A	150908624	G	A	150908624	3	1	19	1	0	0	0	0	1	0	0	0	9470	1174	41	2	1924	2	MED12L	3	150908624	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	22616192	150908624	47113806	29	2295											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T													tctgttcctgattctaaacaINStttttttttcttgatttatc					rs373108427		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		8	235						8	235	---	---	---	---	T	154032978	-	T	154032977	7	5	19	1	0	1	1	0	0	0	0	0	4525	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	3124353	154032977	43989453	30	2296											
N4BP2	55728	broad.mit.edu	37	chr4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-													aagaagcttatcggatagggAaaaaaaatgtcgccaccttt							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88	88	88					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	352						7	352	---	---	---	---	-	40144449	A	-	40144449	7	5	19	1	0	1	0	1	0	0	0	0	10151	247	9	0	4992	0	N4BP2	4	40144449	Frame_Shift_Del	DEL	A	TCGA-2L-AAQI-01A-12D-A397-08		40144449	151009827	31	2297											
QRFPR	84109	broad.mit.edu	37	chr4	122250740	122250740	+	Frame_Shift_Del	DEL	T	T	-													aacaaactgcagacaaaacaTtttttttgaagttttcattc					rs545337361	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:122250740delT	ENST00000394427.2	-	6	1436	c.1025delA	c.(1024-1026)aatfs	p.N342fs	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	342					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGACAAAACATTTTTTTTGAA	0.333													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	10	0.00199681	0.0076	0.0	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0					ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1024-1026)atfs		pyroglutamylated RFamide peptide receptor				1,41,4220		0,0,1,6,29,2095	70	70	70			-2.3	0.5	4		71	2,29,8221		0,0,2,14,1,4109	no	codingComplex	QRFPR	NM_198179.2		0,0,3,20,30,6204	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3757,0.9855,0.5833			122250740	3,70,12441	2202	4299	6501	SO:0001589	frameshift_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250740delT	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1025delA	4.37:g.122250740delT	ENSP00000377948:p.Asn342fs					QRFPR_ENST00000334383.5_3'UTR	p.N342fs	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1436	-			342						Frame_Shift_Del	DEL	ENST00000394427.2	37	c.1025delA	CCDS3719.1																																																																																				0.333	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		7	381						7	381	---	---	---	---	-	122250740	T	-	122250740	7	5	19	1	0	1	0	1	0	0	0	0	12928	1493	52	0	274	0	QRFPR	4	122250740	Frame_Shift_Del	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	82106291	122250740	68903536	32	2298											
HMGB2	3148	broad.mit.edu	37	chr4	174253279	174253279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcatcttcttcttcCtcctcctcctcctcatcttc	0	19	8	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:174253279C>T	ENST00000296503.5	-	5	1455	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_Silent_p.E194E|HMGB2_ENST00000446922.2_Silent_p.E194E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttcttcttcctcctcctcct	0.473																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-582)gaG>gaA		high mobility group box 2							302	253	269					4																	174253279		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253279C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582G>A	4.37:g.174253279C>T						HMGB2_ENST00000446922.2_Silent_p.E194E|HMGB2_ENST00000438704.2_Silent_p.E194E	p.E194E			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	194			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.582G>A	CCDS3816.1																																																																																				0.473	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		6	418	0	0	0	1	0	6	418					T	174253279	C	T	174253279	2	4	19	1	0	0	0	0	0	0	0	1	7256	680	24	2		2	HMGB2	4	174253279	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	52002539	174253279	16900997	33	2299											
ODZ3	55714	broad.mit.edu	37	chr4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-													ggctcacacggcgtttgcatGggggggacgtgtcgctgtga							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109	116	113					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	929						12	929	---	---	---	---	-	183609359	G	-	183609359	7	5	19	1	0	1	0	1	0	0	0	0	10878	1348	47	0	2118	0	ODZ3	4	183609359	Frame_Shift_Del	DEL	G	TCGA-2L-AAQI-01A-12D-A397-08	9356080	183609359	7544917	34	2300											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	304						7	304	---	---	---	---	-	186544622	GGT	-	186544620	7	5	19	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-2L-AAQI-01A-12D-A397-08	2935261	186544620	4609656	35	2301											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683131	33683131	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaatgttacctcttcttCttcgagtagaatgagccgaa	7	8	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:33683131C>A	ENST00000504830.1	-	5	1242	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Glu.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCTCTTCTTCTTCGAGTAGA	0.428										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(907-909)Gaa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							110	100	103					5																	33683131		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683131C>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.907G>T	5.37:g.33683131C>A	ENSP00000422554:p.Glu303*	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*|ADAMTS12_ENST00000504582.1_5'UTR	p.E303*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			5	1242	-			303			Peptidase M12B.|Poly-Glu.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.907G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	42	9.642714	0.99227	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.56	5.56	0.83823	.	0.050809	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5316	0.95231	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000344847:E303X	E	-	1	0	ADAMTS12	33718888	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.574000	0.60900	2.615000	0.88500	0.637000	0.83480	GAA		0.428	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		23	151	1	0	1.12875e-08	1	1.19559e-08	23	151					A	33683131	C	A	33683131	4	1	19	1	0	0	0	0	0	1	0	0	257	922	32	3	3957	3	ADAMTS12	5	33683131	Nonsense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		33683131	147232129	36	2302											
MARVELD2	153562	broad.mit.edu	37	chr5	68737374	68737375	+	Frame_Shift_Ins	INS	-	-	A													acaggatcctacatttctggINSaaaaaaaagaacgctgtgat							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:68737374_68737375insA	ENST00000325631.5	+	7	1644_1645	c.1570_1571insA	c.(1570-1572)gaafs	p.E524fs	MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.E408fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	524					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TACATTTCTGGAAAAAAAAGAA	0.322																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1570-1572)aaafs		MARVEL domain containing 2																																				SO:0001589	frameshift_variant	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737374_68737375insA	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1578dupA	5.37:g.68737382_68737382dupA	ENSP00000323264:p.Glu524fs					MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.K408fs	p.K524fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	7	1644_1645	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	524					A1BQX0|A1BQX1|A8KA97|Q96NM9	Frame_Shift_Ins	INS	ENST00000325631.5	37	c.1570_1571insA	CCDS34175.1																																																																																				0.322	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		7	284						7	284	---	---	---	---	A	68737375	-	A	68737374	7	5	19	1	0	1	1	0	0	0	0	0	9359	1175	41	0	1592	0	MARVELD2	5	68737374	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	35054243	68737374	112177886	37	2303											
PCDHA9	9752	broad.mit.edu	37	chr5	140229647	140229647	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtacgcgctgcagccgTtggaccacgaggagctggag	17	10	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:140229647T>C	ENST00000532602.1	+	1	2600	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Silent_p.L523L|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	523	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)			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)			GCTGCAGCCGTTGGACCACGA	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1567-1569)Ttg>Ctg									59	68	65					5																	140229647		2181	4256	6437	SO:0001819	synonymous_variant	0							g.chr5:140229647T>C	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.1567T>C	5.37:g.140229647T>C						PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.L523L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2291	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1567T>C	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		5	829	0	0	0	1	0	5	829					C	140229647	T	C	140229647	2	2	19	1	0	0	0	0	0	0	0	1	11573	1722	60	4		4	PCDHA9	5	140229647	Silent	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	71492273	140229647	40685613	38	2304											
DIAPH1	1729	broad.mit.edu	37	chr5	140908065	140908065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagctcgtctggaaacttgaGgacatcgggatagtcattct	11	8	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:140908065G>C	ENST00000398557.4	-	23	3243	c.3103C>G	c.(3103-3105)Ctc>Gtc	p.L1035V	DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L1036V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1035	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGAGGACATCGGGA	0.502																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3106-3108)Ctc>Gtc		diaphanous-related formin 1							93	88	89					5																	140908065		1959	4157	6116	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908065G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3103C>G	5.37:g.140908065G>C	ENSP00000381565:p.Leu1035Val					DIAPH1_ENST00000398557.4_Missense_Mutation_p.L1035V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V	p.L1036V			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	3246	-			1035			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3106C>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855978	0.51376	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.072630	0.56097	D	0.000032	T	0.64821	0.2633	M	0.67625	2.065	0.47183	D	0.999347	P;P;P	0.48503	0.911;0.604;0.604	B;B;B	0.40677	0.337;0.239;0.239	T	0.70927	-0.4739	10	0.72032	D	0.01	.	12.6178	0.56586	0.0798:0.0:0.9202:0.0	.	978;1026;1035	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	V	1032;978;1011;1026;1027;1035;1036;1023	ENSP00000373706:L1032V;ENSP00000429282:L978V;ENSP00000381570:L1011V;ENSP00000373709:L1026V;ENSP00000381572:L1027V;ENSP00000381565:L1035V;ENSP00000253811:L1036V;ENSP00000428268:L1023V	ENSP00000253811:L1036V	L	-	1	0	DIAPH1	140888249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.449000	0.35123	2.672000	0.90937	0.467000	0.42956	CTC		0.502	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		36	216	0	0	0	1	0	36	216					C	140908065	G	C	140908065	3	2	19	1	0	0	0	0	1	0	0	0	4534	1000	35	5	739	5	DIAPH1	5	140908065	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	678418	140908065	40007195	39	2305											
NDST1	3340	broad.mit.edu	37	chr5	149907823	149907823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgacatcttcgtggGcaaggagggcacacgcatga	13	9	1	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:149907823G>A	ENST00000261797.6	+	3	1473	c.971G>A	c.(970-972)gGc>gAc	p.G324D	NDST1_ENST00000523767.1_Missense_Mutation_p.G324D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	324	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTTCGTGGGCAAGGAGGGC	0.612																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(970-972)gGc>gAc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							79	72	75					5																	149907823		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907823G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.971G>A	5.37:g.149907823G>A	ENSP00000261797:p.Gly324Asp					NDST1_ENST00000523767.1_Missense_Mutation_p.G324D	p.G324D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1473	+		all_hematologic(541;0.224)	324			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.971G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956426	0.92726	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.56103	0.48;0.75	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.92367	3.3	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	0.85347	0.1099	10	0.87932	D	0	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	324;324;324	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	D	324	ENSP00000428604:G324D;ENSP00000261797:G324D	ENSP00000261797:G324D	G	+	2	0	NDST1	149888016	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.676000	0.98643	2.494000	0.84150	0.555000	0.69702	GGC		0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		5	345	0	0	0	1	0	5	345					A	149907823	G	A	149907823	3	1	19	1	0	0	0	0	1	0	0	0	10297	1203	42	2	977	2	NDST1	5	149907823	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	8999758	149907823	31007437	40	2306											
NSD1	64324	broad.mit.edu	37	chr5	176562876	176562876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccttctcccagcccccTtttcactaggagacacaaac	5	18	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:176562876T>C	ENST00000439151.2	+	2	817	c.772T>C	c.(772-774)Ttt>Ctt	p.F258L	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	258					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAGCCCCCTTTTCACTAGG	0.398			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(772-774)Ttt>Ctt		nuclear receptor binding SET domain protein 1							65	66	66					5																	176562876		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562876T>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.772T>C	5.37:g.176562876T>C	ENSP00000395929:p.Phe258Leu	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron	p.F258L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	817	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	258					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.772T>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279763	0.23392	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.91894	-2.88;-2.93	5.19	-5.9	0.02275	.	1.381160	0.04666	N	0.409818	T	0.78168	0.4241	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.73186	-0.4062	10	0.02654	T	1	.	8.739	0.34545	0.1295:0.5528:0.0:0.3177	.	258;258;258	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	L	258	ENSP00000395929:F258L;ENSP00000354310:F258L	ENSP00000354310:F258L	F	+	1	0	NSD1	176495482	0.081000	0.21417	0.005000	0.12908	0.925000	0.55904	-0.248000	0.08854	-1.356000	0.02183	-0.250000	0.11733	TTT		0.398	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	267	0	0	0	1	0	4	267					C	176562876	T	C	176562876	3	2	19	1	0	0	0	0	1	0	0	0	10711	1609	56	4	774	4	NSD1	5	176562876	Missense_Mutation	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	26655053	176562876	4352384	41	2307											
BMP6	654	broad.mit.edu	37	chr6	7727523	7727525	+	In_Frame_Del	DEL	AGC	AGC	-													ggcgctccggcagcaggaggAgcagcagcagcagcagcagc					rs372792689|rs7745236	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:7727523_7727525delAGC	ENST00000283147.6	+	1	494_496	c.335_337delAGC	c.(334-339)gagcag>gag	p.Q118del		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcaggaggagcagcagcagca	0.709																																						ENST00000283147.6																			1	Deletion - In frame(1)	p.Q118delQ(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(334-339)gag>g		bone morphogenetic protein 6				104,182,3092		24,2,54,16,148,1445						-1.3	0.9			7	66,400,6460		8,0,50,31,338,3036	no	codingComplex	BMP6	NM_001718.4		32,2,104,47,486,4481	A1A1,A1A2,A1R,A2A2,A2R,RR		6.7283,8.4665,7.2981				170,582,9552				SO:0001651	inframe_deletion	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727523_7727525delAGC	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.335_337delAGC	6.37:g.7727532_7727534delAGC	ENSP00000283147:p.Gln118del						p.EQ112del	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	494_496	+	Ovarian(93;0.0721)		112					Q5TCP3	In_Frame_Del	DEL	ENST00000283147.6	37	c.335_337delAGC	CCDS4503.1																																																																																				0.709	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	89						8	89	---	---	---	---	-	7727525	AGC	-	7727523	7	5	19	1	0	1	0	1	0	0	0	0	1466	304	11	0	337	0	BMP6	6	7727523	In_Frame_Del	DEL	AGC	TCGA-2L-AAQI-01A-12D-A397-08		7727523	163387544	42	2308											
KDM1B	221656	broad.mit.edu	37	chr6	18171668	18171668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttactccacagatagcCaagacttatcgatgcggtat	8	11	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:18171668C>T	ENST00000297792.5	+	7	669	c.492C>T	c.(490-492)gcC>gcT	p.A164A	KDM1B_ENST00000388870.2_Silent_p.A164A|KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	164					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CACAGATAGCCAAGACTTATC	0.363																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(490-492)gcC>gcT		lysine (K)-specific demethylase 1B							229	210	216					6																	18171668		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18171668C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.492C>T	6.37:g.18171668C>T						KDM1B_ENST00000297792.5_Silent_p.A164A|KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron	p.A164A			Q8NB78	KDM1B_HUMAN			7	733	+			164					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.492C>T	CCDS34343.1																																																																																				0.363	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		14	287	0	0	0	1	0	14	287					T	18171668	C	T	18171668	2	4	19	1	0	0	0	0	0	0	0	1	8153	581	21	2		2	KDM1B	6	18171668	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	10444145	18171668	152943399	43	2309											
RNF39	80352	broad.mit.edu	37	chr6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgcattaacttttgCcgctttccgcccctctcctg	6	18	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTAACTTTTGCCGCTTTCCGC	0.602																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(76-78)Gca>Aca		ring finger protein 39							51	53	53					6																	30043491		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043491C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.76G>A	6.37:g.30043491C>T	ENSP00000244360:p.Ala26Thr					RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	173	-			26					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.76G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		5	395	0	0	0	1	0	5	395					T	30043491	C	T	30043491	3	4	19	1	0	0	0	0	1	0	0	0	13541	739	26	2	1202	2	RNF39	6	30043491	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	11871823	30043491	141071576	44	2310											
KIAA0240	23506	broad.mit.edu	37	chr6	42821420	42821420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccgcatccttaggaaccGcacaaccacagcaggaaaaa	7	13	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:42821420G>A	ENST00000314073.5	+	8	2166	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	CTTAGGAACCGCACAACCACA	0.428																																						ENST00000314073.5																			0											c.(1990-1992)Gca>Aca		GLTSCR1-like							151	130	137					6																	42821420		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821420G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1990G>A	6.37:g.42821420G>A	ENSP00000313933:p.Ala664Thr					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T	p.A664T							8	2166	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1990G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566769	0.13560	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	4.88	-8.72	0.00845	.	1.206860	0.05800	N	0.611940	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12103	T	0.63	5.0E-4	9.9784	0.41797	0.4926:0.0938:0.4136:0.0	.	664	Q6AI39	K0240_HUMAN	T	664	ENSP00000313933:A664T;ENSP00000377723:A664T	ENSP00000313933:A664T	A	+	1	0	KIAA0240	42929398	0.000000	0.05858	0.004000	0.12327	0.496000	0.33645	-1.124000	0.03260	-1.616000	0.01572	-0.369000	0.07265	GCA		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	315	0	0	0	1	0	6	315					A	42821420	G	A	42821420	3	1	19	1	0	0	0	0	1	0	0	0	8194	1087	38	1	2012	1	KIAA0240	6	42821420	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	12777929	42821420	128293647	45	2311											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887161	62887161	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgttgctgatgacatcaaGatacttcttttcttcgtctt	6	8	4	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:62887161G>A	ENST00000281156.4	-	2	426	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATGACATCAAGATACTTCTTT	0.338																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(148-150)Ctt>Ttt		KH domain containing, RNA binding, signal transduction associated 2							133	122	125					6																	62887161		2200	4298	6498	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887161G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.148C>T	6.37:g.62887161G>A	ENSP00000281156:p.Leu50Phe						p.L50F	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	426	-			50					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.148C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174934	0.78564	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.16324	2.35	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	L	0.56769	1.78	0.80722	D	1	P	0.52842	0.956	P	0.50754	0.649	T	0.00708	-1.1600	10	0.62326	D	0.03	-4.1269	11.3289	0.49465	0.0836:0.0:0.9164:0.0	.	50	Q5VWX1	KHDR2_HUMAN	F	50	ENSP00000281156:L50F	ENSP00000281156:L50F	L	-	1	0	KHDRBS2	62945120	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.320000	0.72876	2.447000	0.82792	0.460000	0.39030	CTT		0.338	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		17	163	0	0	0	1	0	17	163					A	62887161	G	A	62887161	3	1	19	1	0	0	0	0	1	0	0	0	8177	942	33	2	933	2	KHDRBS2	6	62887161	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	20065741	62887161	108227906	46	2312											
POM121L12	285877	broad.mit.edu	37	chr7	53103442	53103442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccctgctgcaaggcccCgacgccctggcggctcccat	11	19	0	0	rs374272329		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:53103442C>T	ENST00000408890.4	+	1	94	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	26										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCAAGGCCCCGACGCCCTGG	0.706																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(76-78)ccC>ccT		POM121 transmembrane nucleoporin-like 12		C		2,4050		0,2,2024	17	22	20		78	-0.4	0	7		20	0,8324		0,0,4162	no	coding-synonymous	POM121L12	NM_182595.3		0,2,6186	TT,TC,CC		0.0,0.0494,0.0162		26/297	53103442	2,12374	2026	4162	6188	SO:0001819	synonymous_variant	285877							g.chr7:53103442C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.78C>T	7.37:g.53103442C>T							p.P26P	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	94	+			26					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.78C>T	CCDS43584.1																																																																																				0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	116	0	0	0	1	0	19	116					T	53103442	C	T	53103442	2	4	19	1	0	0	0	0	0	0	0	1	12283	639	23	1		1	POM121L12	7	53103442	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		53103442	106035221	47	2313											
MAGI2	9863	broad.mit.edu	37	chr7	79082533	79082533	+	Frame_Shift_Del	DEL	C	C	-													ggaactgtccattctcggcgCcccccttcagttcaaagccc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:79082533delC	ENST00000354212.4	-	1	357	c.104delG	c.(103-105)ggcfs	p.G35fs	MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2_ENST00000522391.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	35	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTCTCGGCGCCCCCCTTCAG	0.577																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(103-105)gcfs		membrane associated guanylate kinase, WW and PDZ domain containing 2							75	86	82					7																	79082533		2203	4300	6503	SO:0001589	frameshift_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082533delC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.104delG	7.37:g.79082533delC	ENSP00000346151:p.Gly35fs					MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000446159.1_RNA	p.G35fs	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	357	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	35			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Frame_Shift_Del	DEL	ENST00000354212.4	37	c.104delG	CCDS5594.1																																																																																				0.577	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	758						7	758	---	---	---	---	-	79082533	C	-	79082533	7	5	19	1	0	1	0	1	0	0	0	0	9232	739	26	0	4351	0	MAGI2	7	79082533	Frame_Shift_Del	DEL	C	TCGA-2L-AAQI-01A-12D-A397-08	25979091	79082533	80056130	48	2314											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		9	965						9	965	---	---	---	---	-	99771554	C	-	99771554	7	5	19	1	0	1	0	1	0	0	0	0	6627	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-2L-AAQI-01A-12D-A397-08	20689021	99771554	59367109	49	2315											
MOSPD3	64598	broad.mit.edu	37	chr7	100212491	100212491	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtcttgtttctcagaCccccgccagcaactggccac	9	15	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:100212491C>T	ENST00000393950.2	+	4	795	c.513C>T	c.(511-513)caC>caT	p.H171H	MOSPD3_ENST00000424091.2_Splice_Site_p.H161H|MOSPD3_ENST00000379527.2_Splice_Site_p.H171H|MOSPD3_ENST00000223054.4_Splice_Site_p.H171H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	171					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTTTCTCAGACCCCCGCCAGC	0.577																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e4-1		motile sperm domain containing 3							37	42	40					7																	100212491		2201	4300	6501	SO:0001630	splice_region_variant	64598					integral to membrane	structural molecule activity	g.chr7:100212491C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.512-1C>T	7.37:g.100212491C>T						MOSPD3_ENST00000223054.4_Splice_Site_p.H171_splice|MOSPD3_ENST00000424091.2_Splice_Site_p.H161_splice|MOSPD3_ENST00000379527.2_Splice_Site_p.H171_splice	p.H171_splice	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	795	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		171					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Splice_Site	SNP	ENST00000393950.2	37	c.511_splice	CCDS5701.1																																																																																				0.577	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948	Silent	27	191	0	0	0	1	0	27	191					T	100212491	C	T	100212491	5	4	19	1	0	0	0	0	0	0	1	0	9758	521	18	2	527	2	MOSPD3	7	100212491	Splice_Site	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	440937	100212491	58926172	50	2316											
SLC13A1	6561	broad.mit.edu	37	chr7	122821122	122821122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgagccaaaatgtggCgaccacaaagagtgtgtagg	13	7	1	2	rs199650403	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:122821122C>T	ENST00000194130.2	-	2	172	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	45					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAAAATGTGGCGACCACAAAG	0.428													C|||	7	0.00139776	0.0008	0.0014	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0051					ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(133-135)Gcc>Acc		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						121	102	108					7																	122821122		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821122C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.133G>A	7.37:g.122821122C>T	ENSP00000194130:p.Ala45Thr					SLC13A1_ENST00000539873.1_5'UTR	p.A45T	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			2	172	-			45					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.133G>A	CCDS5786.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	21.0	4.089751	0.76756	.	.	ENSG00000081800	ENST00000194130	T	0.03212	4.01	6.16	6.16	0.99307	.	0.047300	0.85682	D	0.000000	T	0.25344	0.0616	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.02226	-1.1192	10	0.59425	D	0.04	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	45	Q9BZW2	S13A1_HUMAN	T	45	ENSP00000194130:A45T	ENSP00000194130:A45T	A	-	1	0	SLC13A1	122608358	1.000000	0.71417	0.094000	0.20943	0.191000	0.23601	7.258000	0.78371	2.937000	0.99478	0.650000	0.86243	GCC		0.428	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		4	196	0	0	0	1	0	4	196					T	122821122	C	T	122821122	3	4	19	1	0	0	0	0	1	0	0	0	14441	768	27	1	1710	1	SLC13A1	7	122821122	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	22608631	122821122	36317541	51	2317											
DGKI	9162	broad.mit.edu	37	chr7	137148251	137148251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgtagcacgcgggagtGgctgagatctttcagatctg	13	8	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:137148251G>A	ENST00000288490.5	-	28	2743	c.2743C>T	c.(2743-2745)Cac>Tac	p.H915Y	DGKI_ENST00000424189.2_Missense_Mutation_p.H928Y|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	915					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACGCGGGAGTGGCTGAGATCT	0.537																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2782-2784)Cac>Tac		diacylglycerol kinase, iota							117	105	109					7																	137148251		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137148251G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2743C>T	7.37:g.137148251G>A	ENSP00000288490:p.His915Tyr					DGKI_ENST00000288490.5_Missense_Mutation_p.H915Y|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y	p.H928Y			O75912	DGKI_HUMAN			28	3011	-			915					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2782C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617440	0.46736	.	.	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.34472	1.36;1.56	5.91	5.91	0.95273	.	1.734970	0.02527	N	0.093160	T	0.28300	0.0699	N	0.08118	0	0.42635	D	0.993395	B	0.27882	0.192	B	0.19666	0.026	T	0.07635	-1.0762	10	0.23302	T	0.38	.	18.4769	0.90797	0.0:0.0:1.0:0.0	.	915	O75912	DGKI_HUMAN	Y	918;915;897	ENSP00000288490:H915Y;ENSP00000399131:H897Y	ENSP00000288490:H915Y	H	-	1	0	DGKI	136798791	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.461000	0.60115	2.813000	0.96785	0.655000	0.94253	CAC		0.537	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		46	226	0	0	0	1	0	46	226					A	137148251	G	A	137148251	3	1	19	1	0	0	0	0	1	0	0	0	4487	1348	47	2	482	2	DGKI	7	137148251	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14327129	137148251	21990412	52	2318											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79	80	80					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		9	347						9	347	---	---	---	---	-	152346220	A	-	152346220	7	5	19	1	0	1	0	1	0	0	0	0	17507	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-2L-AAQI-01A-12D-A397-08	15197969	152346220	6792443	53	2319											
RP1L1	94137	broad.mit.edu	37	chr8	10470671	10470671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcctcattcatgcggaCcttcttcttcatgtcatcgc	7	15	6	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:10470671C>T	ENST00000382483.3	-	4	1160	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	313					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)		TTCATGCGGACCTTCTTCTTC	0.657																																						ENST00000382483.3																			0				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						c.(937-939)Gtc>Atc		retinitis pigmentosa 1-like 1							82	91	88					8																	10470671		2128	4231	6359	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470671C>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.937G>A	8.37:g.10470671C>T	ENSP00000371923:p.Val313Ile						p.V313I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1160	-			313					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.937G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611972	0.87258	.	.	ENSG00000183638	ENST00000382483	T	0.08008	3.14	4.82	3.95	0.45737	.	0.000000	0.30611	U	0.009248	T	0.16599	0.0399	L	0.28504	0.86	0.38893	D	0.957152	D	0.76494	0.999	D	0.78314	0.991	T	0.03453	-1.1035	10	0.44086	T	0.13	-19.7106	12.3052	0.54898	0.0:0.9179:0.0:0.0821	.	313	A6NKC6	.	I	313	ENSP00000371923:V313I	ENSP00000371923:V313I	V	-	1	0	RP1L1	10508081	1.000000	0.71417	0.907000	0.35723	0.945000	0.59286	3.069000	0.50026	1.254000	0.44035	0.591000	0.81541	GTC		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			80	471	0	0	0	1	0	80	471					T	10470671	C	T	10470671	3	4	19	1	0	0	0	0	1	0	0	0	13583	507	18	2	6269	2	RP1L1	8	10470671	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		10470671	135893351	54	2320											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316053	19316053	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcactttcatgatggggccGaatggtcgaaataagatgag	12	6	2	3	rs142456632	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:19316053G>A	ENST00000454498.2	-	5	1748	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	245					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGATGGGGCCGAATGGTCGAA	0.458																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(733-735)ttC>ttT		chondroitin sulfate N-acetylgalactosaminyltransferase 1		G	,	1,4405	2.1+/-5.4	0,1,2202	320	295	303		735,735	-2.9	0.8	8	dbSNP_134	303	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	CSGALNACT1	NM_001130518.1,NM_018371.4	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	245/533,245/533	19316053	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316053G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.735C>T	8.37:g.19316053G>A						CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F245F	p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1748	-			245					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.735C>T	CCDS6010.1																																																																																				0.458	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		7	879	0	0	0	1	0	7	879					A	19316053	G	A	19316053	2	1	19	1	0	0	0	0	0	0	0	1	3949	1049	37	1		1	CSGALNACT1	8	19316053	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	8845382	19316053	127047969	55	2321											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-													gcggagccctctgctgtggcTtttttttgagattctgctgt							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134	143	140					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		12	824						12	824	---	---	---	---	-	37728933	T	-	37728933	7	5	19	1	0	1	0	1	0	0	0	0	12943	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Del	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	18412880	37728933	108635089	56	2322											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		12	116	0	0	0	1	0	12	116					G	41790659	T	G	41790659	2	3	19	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	4061726	41790659	104573363	57	2323											
COL22A1	169044	broad.mit.edu	37	chr8	139890170	139890170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgggctgccgccgcggCgtccagcaccaggtcctggc	17	16	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:139890170C>T	ENST00000303045.6	-	3	927	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	161	Poly-Ala.|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)				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)			GCCGCCGCGGCGTCCAGCACC	0.716										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(481-483)Gcc>Acc		collagen, type XXII, alpha 1							9	12	11					8																	139890170		2172	4239	6411	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890170C>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.481G>A	8.37:g.139890170C>T	ENSP00000303153:p.Ala161Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T	p.A161T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	927	-	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)		161			Poly-Ala.|VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.481G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868949	0.72065	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.80214	-1.35;-1.35	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.283582	0.24727	N	0.036088	D	0.86863	0.6035	M	0.79693	2.465	0.26563	N	0.973692	D	0.67145	0.996	P	0.55965	0.788	T	0.82043	-0.0653	9	.	.	.	.	13.0527	0.58964	0.0:0.727:0.273:0.0	.	161	Q8NFW1	COMA1_HUMAN	T	161	ENSP00000303153:A161T;ENSP00000387655:A161T	.	A	-	1	0	COL22A1	139959352	0.996000	0.38824	0.927000	0.36925	0.876000	0.50452	2.403000	0.44530	2.446000	0.82766	0.655000	0.94253	GCC		0.716	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	72	0	0	0	1	0	11	72					T	139890170	C	T	139890170	3	4	19	1	0	0	0	0	1	0	0	0	3690	768	27	1	4651	1	COL22A1	8	139890170	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	98099511	139890170	6473852	58	2324											
OPLAH	26873	broad.mit.edu	37	chr8	145109606	145109606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccctcggctggccacataGaacacaggccgcgtctgacc	11	16	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:145109606G>A	ENST00000426825.1	-	19	2625	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	848					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCACATAGAACACAGGCC	0.667																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2542-2544)ttC>ttT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						38	46	44					8																	145109606		2134	4232	6366	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109606G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2544C>T	8.37:g.145109606G>A						OPLAH_ENST00000534424.1_5'UTR	p.F848F	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2625	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		848					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.2544C>T																																																																																					0.667	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		29	203	0	0	0	1	0	29	203					A	145109606	G	A	145109606	2	1	19	1	0	0	0	0	0	0	0	1	10918	933	33	2		2	OPLAH	8	145109606	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	5219436	145109606	1254416	59	2325											
PSIP1	11168	broad.mit.edu	37	chr9	15465556	15465557	+	Frame_Shift_Del	DEL	TC	TC	-													atccttcagagatatttcagTctctctctcttcactggatg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:15465556_15465557delTC	ENST00000380733.4	-	16	1897_1898	c.1554_1555delGA	c.(1552-1557)gagactfs	p.ET518fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.ET518fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	518					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GATATTTCAGTCTCTCTCTCTT	0.366																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1552-1557)gactfs		PC4 and SFRS1 interacting protein 1																																				SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15465556_15465557delTC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1554_1555delGA	9.37:g.15465564_15465565delTC	ENSP00000370109:p.Glu518fs					PSIP1_ENST00000380738.4_Frame_Shift_Del_p.ET518fs	p.ET518fs			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	16	1897_1898	-			518					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	37	c.1554_1555delGA	CCDS6479.1																																																																																				0.366	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		7	388						7	388	---	---	---	---	-	15465557	TC	-	15465556	7	5	19	1	0	1	0	1	0	0	0	0	12710	1667	58	0	41	0	PSIP1	9	15465556	Frame_Shift_Del	DEL	TC	TCGA-2L-AAQI-01A-12D-A397-08		15465556	125747875	60	2326											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	160						10	160	---	---	---	---	-	102590618	CAC	-	102590616	7	5	19	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-2L-AAQI-01A-12D-A397-08	87125060	102590616	38622815	61	2327											
OR1L4	254973	broad.mit.edu	37	chr9	125486817	125486817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactttttctgtgacacccaGcctgtgctaaagctctcctg	7	14	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:125486817G>T	ENST00000259466.1	+	1	549	c.549G>T	c.(547-549)caG>caT	p.Q183H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTGACACCCAGCCTGTGCTAA	0.512																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(547-549)caG>caT		olfactory receptor, family 1, subfamily L, member 4							203	200	201					9																	125486817		2202	4281	6483	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486817G>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.549G>T	9.37:g.125486817G>T	ENSP00000259466:p.Gln183His						p.Q183H	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	549	+			183					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.549G>T	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	4.362	0.066629	0.08388	.	.	ENSG00000136939	ENST00000259466	T	0.00107	8.72	4.01	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.301605	0.24571	N	0.037392	T	0.00073	0.0002	N	0.02685	-0.53	0.29480	N	0.856427	B	0.16802	0.019	B	0.19666	0.026	T	0.03957	-1.0989	10	0.52906	T	0.07	-5.0755	6.7183	0.23316	0.4843:0.0:0.5157:0.0	.	183	Q8NGR5	OR1L4_HUMAN	H	183	ENSP00000259466:Q183H	ENSP00000259466:Q183H	Q	+	3	2	OR1L4	124526638	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	-2.347000	0.01095	0.279000	0.22186	0.298000	0.19748	CAG		0.512	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			7	839	1	0	3.86212e-05	1	3.96052e-05	7	839					T	125486817	G	T	125486817	3	4	19	1	0	0	0	0	1	0	0	0	11007	962	34	3	551	3	OR1L4	9	125486817	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	22896201	125486817	15726614	62	2328											
NOTCH1	4851	broad.mit.edu	37	chr9	139395053	139395053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcatgcagcggggtgCggcccatgttgtcctggatg	16	12	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:139395053C>T	ENST00000277541.6	-	31	5960	c.5885G>A	c.(5884-5886)cGc>cAc	p.R1962H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1962					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGGGTGCGGCCCATGTT	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5884-5886)cGc>cAc		notch 1							72	88	82					9																	139395053		2193	4296	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395053C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5885G>A	9.37:g.139395053C>T	ENSP00000277541:p.Arg1962His	HNSCC(8;0.001)					p.R1962H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5960	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1962					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5885G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737965	0.69304	.	.	ENSG00000148400	ENST00000277541	T	0.66460	-0.21	4.68	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.52266	1.64	0.80722	D	1	P	0.41947	0.766	B	0.27500	0.08	T	0.67914	-0.5547	10	0.87932	D	0	.	16.9985	0.86375	0.0:1.0:0.0:0.0	.	1962	P46531	NOTC1_HUMAN	H	1962	ENSP00000277541:R1962H	ENSP00000277541:R1962H	R	-	2	0	NOTCH1	138514874	0.998000	0.40836	0.765000	0.31456	0.721000	0.41392	7.581000	0.82535	2.322000	0.78497	0.555000	0.69702	CGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	626	0	0	0	1	0	6	626					T	139395053	C	T	139395053	3	4	19	1	0	0	0	0	1	0	0	0	10589	768	27	1	1798	1	NOTCH1	9	139395053	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	13908236	139395053	1818378	63	2329											
SLC34A3	142680	broad.mit.edu	37	chr9	140130438	140130438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcaacctggccgGcatcctgctgtggtacctgg	10	14	3	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:140130438G>A	ENST00000538474.1	+	13	1594	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	457					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACCTGGCCGGCATCCTGCTG	0.711											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1369-1371)gGc>gAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							58	56	56					9																	140130438		2201	4294	6495	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130438G>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1370G>A	9.37:g.140130438G>A	ENSP00000442397:p.Gly457Asp		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D	p.G457D	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1594	+	all_cancers(76;0.0926)		457					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1370G>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898756	0.72639	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.92858	-3.12;-3.12	4.11	4.11	0.48088	.	0.101834	0.41097	D	0.000960	D	0.96706	0.8925	M	0.92412	3.305	0.51482	D	0.999923	D	0.89917	1.0	D	0.83275	0.996	D	0.97453	1.0029	10	0.87932	D	0	-19.2077	14.2126	0.65773	0.0:0.0:1.0:0.0	.	457	Q8N130	NPT2C_HUMAN	D	457	ENSP00000442397:G457D;ENSP00000355353:G457D	ENSP00000355353:G457D	G	+	2	0	SLC34A3	139250259	1.000000	0.71417	0.991000	0.47740	0.656000	0.38851	7.332000	0.79203	2.304000	0.77564	0.407000	0.27541	GGC		0.711	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		5	487	0	0	0	1	0	5	487					A	140130438	G	A	140130438	3	1	19	1	0	0	0	0	1	0	0	0	14619	1203	42	2	1416	2	SLC34A3	9	140130438	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	735385	140130438	1082993	64	2330											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctctgcatatggccGgaagccctcattctcataga	10	12	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1876-1878)Cgg>Tgg		SH3 and PX domains 2A							78	85	83					10																	105363099		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363099G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1876C>T	10.37:g.105363099G>A	ENSP00000358789:p.Arg626Trp					SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W	p.R626W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2152	-		Colorectal(252;0.0815)|Breast(234;0.131)	626					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1876C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990608|2.990608	0.54041|0.54041	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.65916	.|-0.09;-0.18;0.02;-0.18	5.42|5.42	2.32|2.32	0.28847|0.28847	.|.	.|0.137701	.|0.64402	.|D	.|0.000007	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|P;P;P;D	.|0.65443	.|0.863;0.863;0.863;0.935	T|T	0.74287|0.74287	-0.3714|-0.3714	5|10	.|0.72032	.|D	.|0.01	-25.2151|-25.2151	15.2853|15.2853	0.73822|0.73822	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|626;475;471;598	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	L|W	552|626;598;433;541;493;461	.|ENSP00000358789:R626W;ENSP00000348215:R598W;ENSP00000443663:R493W;ENSP00000441514:R461W	.|ENSP00000318135:R433W	P|R	-|-	2|1	0|2	SH3PXD2A|SH3PXD2A	105353089|105353089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.336000|1.336000	0.33850|0.33850	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	697	0	0	0	1	0	5	697					A	105363099	G	A	105363099	3	1	19	1	0	0	0	0	1	0	0	0	14306	1115	39	1	1529	1	SH3PXD2A	10	105363099	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		105363099	30171648	65	2331											
CNGA4	1262	broad.mit.edu	37	chr11	6261751	6261751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgccgccagccagggaagaaGagtacctcttcatggtgggc	14	12	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:6261751G>A	ENST00000379936.2	+	4	842	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	243					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E243K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGAAGAAGAGTACCTCTT	0.552																																						ENST00000379936.2																			1	Substitution - Missense(1)	p.E243K(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(727-729)Gag>Aag		cyclic nucleotide gated channel alpha 4							77	72	74					11																	6261751		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261751G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.727G>A	11.37:g.6261751G>A	ENSP00000369268:p.Glu243Lys					CNGA4_ENST00000533426.1_Intron	p.E243K	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	842	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	243						Missense_Mutation	SNP	ENST00000379936.2	37	c.727G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133543	0.77662	.	.	ENSG00000132259	ENST00000379936	D	0.97731	-4.51	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.982	D	0.98722	1.0709	10	0.87932	D	0	.	17.8807	0.88840	0.0:0.0:1.0:0.0	.	243;203	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	K	243	ENSP00000369268:E243K	ENSP00000369268:E243K	E	+	1	0	CNGA4	6218327	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.420000	0.97426	2.640000	0.89533	0.561000	0.74099	GAG		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		54	342	0	0	0	1	0	54	342					A	6261751	G	A	6261751	3	1	19	1	0	0	0	0	1	0	0	0	3608	943	33	2	741	2	CNGA4	11	6261751	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		6261751	128744765	66	2332											
OR8H2	390151	broad.mit.edu	37	chr11	55873025	55873025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcagattgcatttctaCgactcaaacgtaattcatca	6	9	4	2	rs576066178|rs386753744		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:55873025C>T	ENST00000313503.1	+	1	507	c.507C>T	c.(505-507)taC>taT	p.Y169Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	169			Y -> C (in dbSNP:rs2449148).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGCATTTCTACGACTCAAACG	0.423										HNSCC(53;0.14)			c|||	1	0.000199681	0.0	0.0	5008	,	,		21003	0.0		0.0	False		,,,				2504	0.001					ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(505-507)taC>taT		olfactory receptor, family 8, subfamily H, member 2							256	230	239					11																	55873025		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873025C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.507C>T	11.37:g.55873025C>T		HNSCC(53;0.14)					p.Y169Y	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	507	+	Esophageal squamous(21;0.00693)		169		Y -> C (in dbSNP:rs2449148).			Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.507C>T	CCDS31518.1																																																																																				0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		6	715	0	0	0	1	0	6	715					T	55873025	C	T	55873025	2	4	19	1	0	0	0	0	0	0	0	1	11280	547	19	1		1	OR8H2	11	55873025	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	49611274	55873025	79133491	67	2333											
MRPL16	54948	broad.mit.edu	37	chr11	59573897	59573897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgggctcagtactttccGtatgcccagcatgttggcag	11	10	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:59573897G>A	ENST00000300151.4	-	4	892	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AGTACTTTCCGTATGCCCAGC	0.468																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(679-681)Cgg>Tgg		mitochondrial ribosomal protein L16							251	232	239					11																	59573897		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59573897G>A	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.679C>T	11.37:g.59573897G>A	ENSP00000300151:p.Arg227Trp						p.R227W	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			4	892	-			227					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.679C>T	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863130	0.71949	.	.	ENSG00000166902	ENST00000300151	T	0.25912	1.77	6.07	4.02	0.46733	.	0.045846	0.85682	D	0.000000	T	0.47637	0.1456	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.50676	-0.8800	10	0.87932	D	0	-22.0244	10.3068	0.43685	0.0:0.1084:0.6643:0.2273	.	227	Q9NX20	RM16_HUMAN	W	227	ENSP00000300151:R227W	ENSP00000300151:R227W	R	-	1	2	MRPL16	59330473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.383000	0.52471	1.562000	0.49601	0.655000	0.94253	CGG		0.468	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		5	645	0	0	0	1	0	5	645					A	59573897	G	A	59573897	3	1	19	1	0	0	0	0	1	0	0	0	9822	1144	40	1	80	1	MRPL16	11	59573897	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3700872	59573897	75432619	68	2334											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	478						12	478	---	---	---	---	-	77069992	CAT	-	77069990	7	5	19	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2L-AAQI-01A-12D-A397-08	17496093	77069990	57936526	69	2335											
DIXDC1	85458	broad.mit.edu	37	chr11	111853203	111853203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaagaaaatgatatcaGgactacaggtagctctctcc	8	9	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:111853203G>A	ENST00000440460.2	+	8	1204	c.907G>A	c.(907-909)Gga>Aga	p.G303R	DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	304					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AATGATATCAGGACTACAGGT	0.368																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(907-909)Gga>Aga		DIX domain containing 1							69	68	69					11																	111853203		1850	4087	5937	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853203G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.907G>A	11.37:g.111853203G>A	ENSP00000394352:p.Gly303Arg					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R	p.G303R	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	8	1204	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	304					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.907G>A		.	.	.	.	.	.	.	.	.	.	G	18.01	3.528320	0.64860	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.19806	2.12;2.12	6.16	6.16	0.99307	.	0.354131	0.36519	N	0.002544	T	0.43612	0.1255	.	.	.	0.54753	D	0.999988	B;D	0.89917	0.05;1.0	B;D	0.76575	0.048;0.988	T	0.01858	-1.1259	9	0.19590	T	0.45	-10.0595	19.4236	0.94732	0.0:0.0:1.0:0.0	.	92;304	E7EQ17;Q155Q3	.;DIXC1_HUMAN	R	303;92	ENSP00000394352:G303R;ENSP00000314068:G92R	ENSP00000314068:G92R	G	+	1	0	DIXDC1	111358413	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.817000	0.62650	2.937000	0.99478	0.650000	0.86243	GGA		0.368	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		6	71	0	0	0	1	0	6	71					A	111853203	G	A	111853203	3	1	19	1	0	0	0	0	1	0	0	0	4557	991	35	2	962	2	DIXDC1	11	111853203	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	34783213	111853203	23153313	70	2336											
C11orf57	55216	broad.mit.edu	37	chr11	111953288	111953289	+	Frame_Shift_Ins	INS	-	-	A													agaagtcaaagaaatcccacINSaaaaaaaagcagaaaaaaag							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:111953288_111953289insA	ENST00000280352.9	+	6	1107_1108	c.471_472insA	c.(472-474)aaafs	p.K158fs	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Ins_p.K130fs|C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.K158fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.K159fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	158	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAAATCCCACAAAAAAAAGCA	0.396																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(385-390)caaaaafs		chromosome 11 open reading frame 57																																				SO:0001589	frameshift_variant	55216							g.chr11:111953288_111953289insA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.479dupA	11.37:g.111953296_111953296dupA	ENSP00000339076:p.Lys158fs					C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.QK158fs|C11orf57_ENST00000280352.9_Frame_Shift_Ins_p.QK157fs	p.QK129fs			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1153_1154	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	157					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Ins	INS	ENST00000280352.9	37	c.387_388insA	CCDS41715.1																																																																																				0.396	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		7	264						7	264	---	---	---	---	A	111953289	-	A	111953288	7	5	19	1	0	1	1	0	0	0	0	0	1655	477	17	0	492	0	C11orf57	11	111953288	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	100085	111953288	23053228	71	2337											
IFT46	56912	broad.mit.edu	37	chr11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-													ccagaggggctccatgctctTcatcatcatcatcagaatca							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000530872.1_In_Frame_Del_p.D104del|IFT46_ENST00000264020.2_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		10	1027						10	1027	---	---	---	---	-	118427647	TCA	-	118427645	7	5	19	1	0	1	0	1	0	0	0	0	7590	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-2L-AAQI-01A-12D-A397-08	6474357	118427645	16578871	72	2338											
C11orf63	79864	broad.mit.edu	37	chr11	122817261	122817261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctccagattcatggCtcacccagataatggagcag	10	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:122817261C>A	ENST00000531316.1	+	5	1782	c.1690C>A	c.(1690-1692)Ctc>Atc	p.L564I	C11orf63_ENST00000227349.2_Missense_Mutation_p.L564I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	564					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGATTCATGGCTCACCCAGAT	0.458																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1690-1692)Ctc>Atc		chromosome 11 open reading frame 63							69	67	67					11																	122817261		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122817261C>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1690C>A	11.37:g.122817261C>A	ENSP00000431669:p.Leu564Ile					C11orf63_ENST00000531316.1_Missense_Mutation_p.L564I	p.L564I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	1987	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	564					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1690C>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322699	0.81580	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.27104	1.69;1.69	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000049	T	0.52484	0.1737	M	0.73598	2.24	0.41135	D	0.985915	D	0.89917	1.0	D	0.91635	0.999	T	0.48043	-0.9069	10	0.40728	T	0.16	-12.9324	17.533	0.87819	0.0:1.0:0.0:0.0	.	564	Q6NUN7	CK063_HUMAN	I	564	ENSP00000227349:L564I;ENSP00000431669:L564I	ENSP00000227349:L564I	L	+	1	0	C11orf63	122322471	0.996000	0.38824	0.669000	0.29828	0.090000	0.18270	2.192000	0.42649	2.666000	0.90696	0.655000	0.94253	CTC		0.458	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	375	1	0	1	1	1	5	375					A	122817261	C	A	122817261	3	1	19	1	0	0	0	0	1	0	0	0	1659	797	28	3	1772	3	C11orf63	11	122817261	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	4389616	122817261	12189255	73	2339											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	272	1	0	1.22674e-20	1	1.3345e-20	34	272					A	25398284	C	A	25398284	3	1	19	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		25398284	108453611	74	2340											
CNTN1	1272	broad.mit.edu	37	chr12	41323657	41323657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatcacaatggataaaCggcgatttgtgtctcagaca	8	7	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:41323657C>T	ENST00000551295.2	+	7	673	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	186	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATGGATAAACGGCGATTTGT	0.378																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(556-558)Cgg>Tgg		contactin 1							112	111	111					12																	41323657		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323657C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.556C>T	12.37:g.41323657C>T	ENSP00000447006:p.Arg186Trp					CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W	p.R186W	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			7	673	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	186			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.556C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654902	0.67472	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.17	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	H	0.95917	3.74	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94943	0.8093	10	0.87932	D	0	.	13.2205	0.59885	0.2891:0.7109:0.0:0.0	.	186;175;186	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	W	186;186;186;186;186;175	ENSP00000448004:R186W;ENSP00000447006:R186W;ENSP00000448653:R186W;ENSP00000325660:R186W;ENSP00000353213:R186W;ENSP00000261160:R175W	ENSP00000325660:R186W	R	+	1	2	CNTN1	39609924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.900000	0.48687	1.308000	0.44962	0.655000	0.94253	CGG		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		68	424	0	0	0	1	0	68	424					T	41323657	C	T	41323657	3	4	19	1	0	0	0	0	1	0	0	0	3649	527	19	1	578	1	CNTN1	12	41323657	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	15925373	41323657	92528238	75	2341											
KRT6B	3854	broad.mit.edu	37	chr12	52845384	52845384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcacgctcctcggccCgcacccgctggatggcgggg	14	17	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:52845384C>T	ENST00000252252.3	-	1	526	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	160	Head.			VR -> IG (in Ref. 2; AAA59466). {ECO:0000305}.	ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTCCTCGGCCCGCACCCGCTG	0.597																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(478-480)cGg>cAg		keratin 6B							53	72	65					12																	52845384		2203	4296	6499	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845384C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.479G>A	12.37:g.52845384C>T	ENSP00000252252:p.Arg160Gln						p.R160Q	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	526	-			160	VR -> IG (in Ref. 2; AAA59466).		Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.479G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606483	0.46527	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.85556	-2.0	3.28	0.429	0.16506	.	0.089287	0.44902	D	0.000418	D	0.88890	0.6560	M	0.94021	3.485	0.32244	N	0.572368	D	0.60160	0.987	P	0.48552	0.581	D	0.88941	0.3380	10	0.87932	D	0	.	8.7904	0.34848	0.0:0.7388:0.0:0.2612	.	160	P04259	K2C6B_HUMAN	Q	160	ENSP00000252252:R160Q	ENSP00000252252:R160Q	R	-	2	0	KRT6B	51131651	0.168000	0.22989	0.024000	0.17045	0.255000	0.26057	0.832000	0.27490	0.094000	0.17404	0.298000	0.19748	CGG		0.597	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		19	509	0	0	0	1	0	19	509					T	52845384	C	T	52845384	3	4	19	1	0	0	0	0	1	0	0	0	8511	652	23	1	1251	1	KRT6B	12	52845384	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	11521727	52845384	81006511	76	2342											
CCDC63	160762	broad.mit.edu	37	chr12	111311658	111311659	+	Frame_Shift_Ins	INS	-	-	A													ttttcagattcttcagatggINSaaaaaaaaatcgcaaaccaa							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:111311658_111311659insA	ENST00000308208.5	+	5	624_625	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.E88fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.E49fs|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(382-384)aaafs		coiled-coil domain containing 63																																				SO:0001589	frameshift_variant	160762							g.chr12:111311658_111311659insA	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.391dupA	12.37:g.111311667_111311667dupA	ENSP00000312399:p.Glu128fs					CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.K49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.K88fs	p.K128fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			5	624_625	+			128					B4DY03|Q0P603|Q6P2E1	Frame_Shift_Ins	INS	ENST00000308208.5	37	c.382_383insA	CCDS9151.1																																																																																				0.416	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		9	367						9	367	---	---	---	---	A	111311659	-	A	111311658	7	5	19	1	0	1	1	0	0	0	0	0	2841	1175	41	0	396	0	CCDC63	12	111311658	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	58466274	111311658	22540237	77	2343											
NCOR2	9612	broad.mit.edu	37	chr12	124816902	124816902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggttgtgggtgttcagcttCttgttgatctcttgcttctt	11	8	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:124816902C>A	ENST00000405201.1	-	43	6867	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	NCOR2_ENST00000356219.3_Missense_Mutation_p.K2296N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2300					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTTCAGCTTCTTGTTGATCT	0.607											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6886-6888)aaG>aaT		nuclear receptor corepressor 2							164	164	164					12																	124816902		2056	4183	6239	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124816902C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6867G>T	12.37:g.124816902C>A	ENSP00000384018:p.Lys2289Asn		OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_ENST00000405201.1_Missense_Mutation_p.K2289N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N	p.K2296N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	44	7043	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2300					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6888G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.623667|2.623667	0.46840|0.46840	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.26810|.	1.71;1.99;1.72;1.99;1.73;1.98|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.056456|.	0.64402|.	D|.	0.000001|.	T|T	0.63792|0.63792	0.2541|0.2541	M|M	0.64997|0.64997	1.995|1.995	0.47584|0.47584	D|D	0.999463|0.999463	D;D;D|.	0.76494|.	0.999;0.995;0.991|.	D;D;D|.	0.80764|.	0.994;0.98;0.979|.	T|T	0.63292|0.63292	-0.6670|-0.6670	10|5	0.87932|.	D|.	0|.	-35.1737|-35.1737	10.6433|10.6433	0.45604|0.45604	0.0:0.9104:0.0:0.0896|0.0:0.9104:0.0:0.0896	.|.	2280;2289;2300|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	N|I	2289;2279;2296;2280;2288;1850;381;2279|161;80	ENSP00000384018:K2289N;ENSP00000384202:K2279N;ENSP00000348551:K2296N;ENSP00000380513:K2280N;ENSP00000385618:K1850N;ENSP00000400281:K2279N|.	ENSP00000348551:K2296N|.	K|R	-|-	3|2	2|0	NCOR2|NCOR2	123382855|123382855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.101000|2.101000	0.41787|0.41787	1.981000|1.981000	0.57761|0.57761	0.462000|0.462000	0.41574|0.41574	AAG|AGA		0.607	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	359	1	0	3.59834e-05	1	3.71367e-05	5	359					A	124816902	C	A	124816902	3	1	19	1	0	0	0	0	1	0	0	0	10278	912	32	3	697	3	NCOR2	12	124816902	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	13505244	124816902	9034993	78	2344											
GPR133	283383	broad.mit.edu	37	chr12	131569149	131569149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaacctcacctactccGtctgccgctgcactcacctc	7	18	3	0	rs200971352	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:131569149G>A	ENST00000261654.5	+	15	2171	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	538	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACCTACTCCGTCTGCCGCTG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18042	0.0		0.001	False		,,,				2504	0.001					ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1612-1614)Gtc>Atc		G protein-coupled receptor 133							138	94	109					12																	131569149		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131569149G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1612G>A	12.37:g.131569149G>A	ENSP00000261654:p.Val538Ile					GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I	p.V538I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	15	2171	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		538			GPS.		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1612G>A	CCDS9272.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.863	0.160432	0.09287	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.99	-6.86	0.01676	GPS domain (3);	1.327960	0.05058	N	0.479422	T	0.45498	0.1345	N	0.13235	0.315	0.09310	N	0.999996	B;B;B	0.15930	0.003;0.012;0.015	B;B;B	0.15870	0.004;0.005;0.014	T	0.47222	-0.9134	10	0.09338	T	0.73	.	15.0568	0.71921	0.6686:0.0:0.3314:0.0	.	570;57;538	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	I	538;570;224;57	ENSP00000261654:V538I;ENSP00000444425:V570I;ENSP00000365872:V224I;ENSP00000438021:V57I	ENSP00000261654:V538I	V	+	1	0	GPR133	130135102	0.001000	0.12720	0.002000	0.10522	0.157000	0.22087	-0.217000	0.09253	-1.452000	0.01931	-2.516000	0.00186	GTC		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		40	199	0	0	0	1	0	40	199					A	131569149	G	A	131569149	3	1	19	1	0	0	0	0	1	0	0	0	6672	1145	40	1	1670	1	GPR133	12	131569149	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	6752247	131569149	2282746	79	2345											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	159	0	0	0	1	0	8	159					A	132547141	G	A	132547141	2	1	19	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	977992	132547141	1304754	80	2346											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		16	441						16	441	---	---	---	---	-	45148708	TGC	-	45148706	7	5	19	1	0	1	0	1	0	0	0	0	16660	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-2L-AAQI-01A-12D-A397-08		45148706	70021172	81	2347											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	11	11	0	1	rs371327441		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R604C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1810-1812)Cgc>Tgc		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	165	150	155		1810	4.5	1	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	604/959	88329453	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329453C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1810C>T	13.37:g.88329453C>T	ENSP00000366283:p.Arg604Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	p.R604C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2029	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		604			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1810C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011439	0.54468	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61158	0.13;0.49	5.47	4.54	0.55810	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.81450	-0.0927	9	.	.	.	-15.1954	14.535	0.67953	0.1566:0.8434:0.0:0.0	.	363;604	B4DSH5;O94991	.;SLIK5_HUMAN	C	604;363	ENSP00000366283:R604C;ENSP00000442244:R363C	.	R	+	1	0	SLITRK5	87127454	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.167000	0.50793	2.554000	0.86153	0.555000	0.69702	CGC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	875	0	0	0	1	0	7	875					T	88329453	C	T	88329453	3	4	19	1	0	0	0	0	1	0	0	0	14796	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	43180747	88329453	26840425	82	2348											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		11	134						11	134	---	---	---	---	-	74205928	CTG	-	74205926	7	5	19	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-2L-AAQI-01A-12D-A397-08		74205926	33143614	83	2349											
DLK1	8788	broad.mit.edu	37	chr14	101200618	101200618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcacccccaacccatgCgagaacgacggcgtctgcac	10	17	1	1	rs143814604	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:101200618C>T	ENST00000341267.4	+	5	779	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DLK1_ENST00000331224.6_Silent_p.C179C	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	179	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCAACCCATGCGAGAACGACG	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14288	0.0		0.0	False		,,,				2504	0.0					ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(535-537)tgC>tgT		delta-like 1 homolog (Drosophila)		C		7,4399	12.9+/-30.5	0,7,2196	70	73	72		537	3.5	1	14	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	DLK1	NM_003836.5		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		179/384	101200618	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200618C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.537C>T	14.37:g.101200618C>T						DLK1_ENST00000331224.6_Silent_p.C179C	p.C179C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	779	+		Melanoma(154;0.155)	179			EGF-like 5.		P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.537C>T	CCDS9963.1																																																																																				0.657	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			48	336	0	0	0	1	0	48	336					T	101200618	C	T	101200618	2	4	19	1	0	0	0	0	0	0	0	1	4580	776	27	1		1	DLK1	14	101200618	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	26994692	101200618	6148922	84	2350											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	414						8	414	---	---	---	---	-	59144134	GCT	-	59144132	7	5	19	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-2L-AAQI-01A-12D-A397-08		59144132	43387260	85	2351											
SLC24A1	9187	broad.mit.edu	37	chr15	65943130	65943130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagagcaggaggaagaGgaggaggaggaggaggaaga	23	1	0	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:65943130G>A	ENST00000261892.6	+	7	2930	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000339868.6_Silent_p.E863E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	881	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						aggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)gaG>gaA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							37	42	40					15																	65943130		2191	4285	6476	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943130G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2643G>A	15.37:g.65943130G>A						SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Silent_p.E863E	p.E881E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2930	+			881			Poly-Glu.		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.2643G>A	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		4	132	0	0	0	1	0	4	132					A	65943130	G	A	65943130	2	1	19	1	0	0	0	0	0	0	0	1	14515	991	35	2		2	SLC24A1	15	65943130	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	6798998	65943130	36588262	86	2352											
NAGPA	51172	broad.mit.edu	37	chr16	5077996	5077996	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcactctccgtgcacagtcCgtgctggctgcagttagagg	12	13	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:5077996C>A	ENST00000312251.3	-	6	1130	c.1111G>T	c.(1111-1113)Gga>Tga	p.G371*	NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371*|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	371	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GTGCACAGTCCGTGCTGGCTG	0.687																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(1111-1113)Gga>Tga		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						33	33	33					16																	5077996		2197	4300	6497	SO:0001587	stop_gained	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5077996C>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1111G>T	16.37:g.5077996C>A	ENSP00000310998:p.Gly371*					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371*	p.G371*	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			6	1130	-			371			EGF-like.		B2RAS1|Q96EJ8	Nonsense_Mutation	SNP	ENST00000312251.3	37	c.1111G>T	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.7837	17.027	0.86450	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000310998:G371X	G	-	1	0	NAGPA	5017997	1.000000	0.71417	0.351000	0.25721	0.106000	0.19336	7.381000	0.79718	2.002000	0.58637	0.561000	0.74099	GGA		0.687	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		22	166	1	0	1.55469e-16	1	1.66871e-16	22	166					A	5077996	C	A	5077996	4	1	19	1	0	0	0	0	0	1	0	0	10185	661	23	3	456	3	NAGPA	16	5077996	Nonsense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		5077996	85276757	87	2353											
TMEM186	25880	broad.mit.edu	37	chr16	8890319	8890319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtttggtagtttctccttCgagatgggtgaactgctgcc	13	9	1	2	rs149142450		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:8890319C>T	ENST00000333050.6	-	2	165	c.132G>A	c.(130-132)tcG>tcA	p.S44S	PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	44						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GTTTCTCCTTCGAGATGGGTG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22686	0.0		0.0	False		,,,				2504	0.0					ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(130-132)tcG>tcA		transmembrane protein 186		C		1,4393	2.1+/-5.4	0,1,2196	123	128	126		132	-10.6	0	16	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	TMEM186	NM_015421.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		44/214	8890319	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	25880					integral to membrane|mitochondrion		g.chr16:8890319C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.132G>A	16.37:g.8890319C>T						TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	p.S44S	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	165	-			44					B2RAY0|Q9Y4T4	Silent	SNP	ENST00000333050.6	37	c.132G>A	CCDS10535.1																																																																																				0.532	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		44	414	0	0	0	1	0	44	414					T	8890319	C	T	8890319	2	4	19	1	0	0	0	0	0	0	0	1	16160	871	31	1		1	TMEM186	16	8890319	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	3812323	8890319	81464434	88	2354											
SMG1	23049	broad.mit.edu	37	chr16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgccgccgccgccgcCgctgctcagccgagaccccg	14	21	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				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)			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						ccgccgccgccgctgcTCAGC	0.736																																						ENST00000446231.2																			0				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						c.(37-39)Ggc>Agc		SMG1 phosphatidylinositol 3-kinase-related kinase							2	3	3					16																	18937327		1046	2801	3847	SO:0001583	missense	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.chr16:18937327C>T	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.37G>A	16.37:g.18937327C>T	ENSP00000402515:p.Gly13Ser					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S	p.G13S			Q96Q15	SMG1_HUMAN			1	449	-			13			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.37G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	69	0	0	0	1	0	5	69					T	18937327	C	T	18937327	3	4	19	1	0	0	0	0	1	0	0	0	14845	652	23	1	11200	1	SMG1	16	18937327	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	10047008	18937327	71417426	89	2355											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			12	382						12	382	---	---	---	---	-	57731887	GGA	-	57731885	7	5	19	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-2L-AAQI-01A-12D-A397-08	38794558	57731885	32622868	90	2356											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	290						8	290	---	---	---	---	-	67913769	CAG	-	67913767	7	5	19	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-2L-AAQI-01A-12D-A397-08	10181882	67913767	22440986	91	2357											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	9	16	1	1	rs201277640		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000429149.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		8	722	0	0	0	1	0	8	722					T	70693984	C	T	70693984	3	4	19	1	0	0	0	0	1	0	0	0	7724	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2780217	70693984	19660769	92	2358											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	11	14	3	1	rs371409680		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		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"		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(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	GRCh37	CM021154	TP53	M		c.(847-849)cGc>cCc	Other conserved DNA damage response genes	tumor protein p53							86	73	78					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>G	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.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	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_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P	p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	131	0	0	0	1	0	29	131					G	7577090	C	G	7577090	3	3	19	1	0	0	0	0	1	0	0	0	16434	768	27	5	438	5	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		7577090	73618120	93	2359											
SSH2	85464	broad.mit.edu	37	chr17	27957908	27957908	+	Frame_Shift_Del	DEL	T	T	-													tccgttttttgtcatttgccTttttcagtctcctaaggggg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:27957908delT	ENST00000269033.3	-	15	4374	c.4223delA	c.(4222-4224)aagfs	p.K1408fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1435fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1408					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)		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						GTCATTTGCCTTTTTCAGTCT	0.507																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				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						c.(4222-4224)agfs		slingshot protein phosphatase 2							217	198	204					17																	27957908		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:27957908delT	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.4223delA	17.37:g.27957908delT	ENSP00000269033:p.Lys1408fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1435fs	p.K1408fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4374	-			1408					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.4223delA	CCDS11253.1																																																																																				0.507	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	1108						7	1108	---	---	---	---	-	27957908	T	-	27957908	7	5	19	1	0	1	0	1	0	0	0	0	15237	1609	56	0	52	0	SSH2	17	27957908	Frame_Shift_Del	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	20380818	27957908	53237302	94	2360											
TEX2	55852	broad.mit.edu	37	chr17	62290359	62290359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcactaaggcagacaAagaacatttctccagaacta	6	10	2	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:62290359A>C	ENST00000583097.1	-	2	1391	c.1219T>G	c.(1219-1221)Ttg>Gtg	p.L407V	TEX2_ENST00000258991.3_Missense_Mutation_p.L407V|TEX2_ENST00000584379.1_Missense_Mutation_p.L407V			Q8IWB9	TEX2_HUMAN	testis expressed 2	407					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGGCAGACAAAGAACATTTC	0.448																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1219-1221)Ttg>Gtg		testis expressed 2							100	103	102					17																	62290359		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290359A>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1219T>G	17.37:g.62290359A>C	ENSP00000462665:p.Leu407Val					TEX2_ENST00000584379.1_Missense_Mutation_p.L407V|TEX2_ENST00000583097.1_Missense_Mutation_p.L407V	p.L407V			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1303	-			407					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1219T>G		.	.	.	.	.	.	.	.	.	.	A	6.515	0.463155	0.12402	.	.	ENSG00000136478	ENST00000258991	T	0.54866	0.55	6.11	-3.07	0.05363	.	0.241819	0.43260	D	0.000598	T	0.45577	0.1349	L	0.56769	1.78	0.25501	N	0.987551	P;P	0.42827	0.791;0.687	B;B	0.44133	0.442;0.257	T	0.47522	-0.9111	10	0.54805	T	0.06	-10.7897	8.1698	0.31247	0.4215:0.0:0.463:0.1155	.	407;407	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	V	407	ENSP00000258991:L407V	ENSP00000258991:L407V	L	-	1	2	TEX2	59644091	0.625000	0.27111	0.126000	0.21872	0.971000	0.66376	1.066000	0.30604	-0.522000	0.06417	-0.250000	0.11733	TTG		0.448	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		88	532	0	0	0	1	0	88	532					C	62290359	A	C	62290359	3	2	19	1	0	0	0	0	1	0	0	0	15833	11	1	4	2229	4	TEX2	17	62290359	Missense_Mutation	SNP	A	TCGA-2L-AAQI-01A-12D-A397-08	34332451	62290359	18904851	95	2361											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968673	76968673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggggaggaggatgGcaaagaggcttgcgcagtag	20	6	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:76968673G>A	ENST00000262776.3	-	6	1051	c.743C>T	c.(742-744)gCc>gTc	p.A248V	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	248					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GAGGAGGATGGCAAAGAGGCT	0.617																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(742-744)gCc>gTc		lectin, galactoside-binding, soluble, 3 binding protein							42	43	43					17																	76968673		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76968673G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.743C>T	17.37:g.76968673G>A	ENSP00000262776:p.Ala248Val					LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S	p.A248V	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1051	-			248					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.743C>T	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530901	0.13127	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01422	4.91	3.65	0.453	0.16639	BTB/POZ fold (1);	0.197685	0.25183	N	0.032512	T	0.01387	0.0045	L	0.44542	1.39	0.09310	N	0.999999	B	0.15141	0.012	B	0.10450	0.005	T	0.46952	-0.9154	10	0.25751	T	0.34	-24.5418	6.2835	0.21021	0.3254:0.0:0.6746:0.0	.	248	Q08380	LG3BP_HUMAN	V	248;236	ENSP00000262776:A248V	ENSP00000262776:A248V	A	-	2	0	LGALS3BP	74480268	0.743000	0.28239	0.008000	0.14137	0.424000	0.31475	2.722000	0.47269	0.146000	0.19002	0.561000	0.74099	GCC		0.617	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		27	225	0	0	0	1	0	27	225					A	76968673	G	A	76968673	3	1	19	1	0	0	0	0	1	0	0	0	8775	1203	42	2	1018	2	LGALS3BP	17	76968673	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14678314	76968673	4226537	96	2362											
SLC25A10	1468	broad.mit.edu	37	chr17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatctacgagactgtgCgggaccgtgtggccaagggc	15	12	1	1	rs199824906		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:79682550C>T	ENST00000350690.5	+	3	342	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000331531.5_Missense_Mutation_p.R86W	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14954	0.0		0.001	False		,,,				2504	0.0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(256-258)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						136	141	139					17																	79682550		2203	4299	6502	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682550C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.256C>T	17.37:g.79682550C>T	ENSP00000345580:p.Arg86Trp					SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W	p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	376	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		86					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.256C>T	CCDS11786.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.01	3.002726	0.54254	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	3.88	2.81	0.32909	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.90759	3.145	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.981;0.963;0.978	D	0.90751	0.4657	10	0.87932	D	0	-20.6762	10.4438	0.44481	0.3778:0.6221:0.0:0.0	.	241;86;86	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	W	241;86;86;43	ENSP00000439565:R241W;ENSP00000328403:R86W;ENSP00000345580:R86W;ENSP00000446242:R43W	ENSP00000328403:R86W	R	+	1	2	SLC25A10	77292955	0.997000	0.39634	0.998000	0.56505	0.506000	0.33950	0.948000	0.29096	1.731000	0.51592	0.313000	0.20887	CGG		0.697	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			8	1088	0	0	0	1	0	8	1088					T	79682550	C	T	79682550	3	4	19	1	0	0	0	0	1	0	0	0	14522	759	27	1	266	1	SLC25A10	17	79682550	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2713877	79682550	1512660	97	2363											
RFX2	5990	broad.mit.edu	37	chr19	6013025	6013025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcatgggctgctgccGcatggccatgtactgcgtgt	15	11	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:6013025G>A	ENST00000303657.5	-	8	1020	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCTGCTGCCGCATGGCCATG	0.622																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(871-873)Cgg>Tgg		regulatory factor X, 2 (influences HLA class II expression)							103	103	103					19																	6013025		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6013025G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.871C>T	19.37:g.6013025G>A	ENSP00000306335:p.Arg291Trp					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W	p.R291W	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			8	1020	-			291					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.871C>T	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263838	0.80358	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.68903	-0.36	4.99	0.693	0.18056	.	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.83606	0.0131	10	0.87932	D	0	-48.1749	13.7584	0.62950	0.0:0.0:0.234:0.766	.	266;291	P48378-2;P48378	.;RFX2_HUMAN	W	291;266;78	ENSP00000306335:R291W	ENSP00000306335:R291W	R	-	1	2	RFX2	5964025	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.976000	0.40579	0.152000	0.19188	0.557000	0.71058	CGG		0.622	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		7	868	0	0	0	1	0	7	868					A	6013025	G	A	6013025	3	1	19	1	0	0	0	0	1	0	0	0	13313	1086	38	1	1344	1	RFX2	19	6013025	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		6013025	53115958	98	2364											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	244						8	244	---	---	---	---	-	11038364	GCT	-	11038362	7	5	19	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-2L-AAQI-01A-12D-A397-08	5025337	11038362	48090621	99	2365											
MAST1	22983	broad.mit.edu	37	chr19	12969441	12969441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaccagatccagcaGgcctttgtggagcgcgatat	11	13	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:12969441G>C	ENST00000251472.4	+	12	1293	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGATCCAGCAGGCCTTTGTGG	0.587																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1252-1254)caG>caC		microtubule associated serine/threonine kinase 1							94	81	86					19																	12969441		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969441G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1254G>C	19.37:g.12969441G>C	ENSP00000251472:p.Gln418His					MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H	p.Q418H	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1293	+			418			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1254G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564284	0.65651	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.66460	-0.21	4.75	3.71	0.42584	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	0.60248	0.2254	N	0.03071	-0.42	0.58432	D	0.999992	D;B	0.76494	0.999;0.357	D;B	0.87578	0.998;0.237	T	0.69343	-0.5170	10	0.87932	D	0	-32.5112	11.0071	0.47641	0.0928:0.0:0.9072:0.0	.	418;418	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	H	418	ENSP00000251472:Q418H	ENSP00000251472:Q418H	Q	+	3	2	MAST1	12830441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.809000	0.62591	1.144000	0.42321	0.561000	0.74099	CAG		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		14	216	0	0	0	1	0	14	216					C	12969441	G	C	12969441	3	2	19	1	0	0	0	0	1	0	0	0	9365	991	35	5	1300	5	MAST1	19	12969441	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	1931079	12969441	46159542	100	2366											
WDR88	126248	broad.mit.edu	37	chr19	33623225	33623225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcaagctgtcgatcccGcacacgcacctgctggccac	9	18	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:33623225G>A	ENST00000355868.3	+	1	226	c.150G>A	c.(148-150)ccG>ccA	p.P50P	WDR88_ENST00000592765.1_Silent_p.P50P|WDR88_ENST00000361680.2_Silent_p.P50P	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	50										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TGTCGATCCCGCACACGCACC	0.652																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(148-150)ccG>ccA		WD repeat domain 88							81	78	79					19																	33623225		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33623225G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.150G>A	19.37:g.33623225G>A						WDR88_ENST00000355868.3_Silent_p.P50P|WDR88_ENST00000592765.1_Silent_p.P50P	p.P50P			Q6ZMY6	WDR88_HUMAN			1	228	+	Esophageal squamous(110;0.137)		50					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.150G>A	CCDS12429.1																																																																																				0.652	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		5	505	0	0	0	1	0	5	505					A	33623225	G	A	33623225	2	1	19	1	0	0	0	0	0	0	0	1	17389	1074	38	1		1	WDR88	19	33623225	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	20653784	33623225	25505758	101	2367											
ATP4A	495	broad.mit.edu	37	chr19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctcctgggccattgccGtgaagtagtcagtgaagcca	12	12	1	2	rs550481947		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36044045G>A	ENST00000262623.3	-	18	2673	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	882					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCCATTGCCGTGAAGTAGTC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		22226	0.001		0.0	False		,,,				2504	0.0					ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2644-2646)aCg>aTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						83	81	82					19																	36044045		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044045G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2645C>T	19.37:g.36044045G>A	ENSP00000262623:p.Thr882Met						p.T882M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2673	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		882					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2645C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596685	0.66332	.	.	ENSG00000105675	ENST00000262623	D	0.88664	-2.41	4.61	4.61	0.57282	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.071986	0.53938	D	0.000046	D	0.93409	0.7898	M	0.69823	2.125	0.40751	D	0.982918	D	0.89917	1.0	D	0.75484	0.986	D	0.93818	0.7116	10	0.52906	T	0.07	.	14.9885	0.71368	0.0:0.0:1.0:0.0	.	882	P20648	ATP4A_HUMAN	M	882	ENSP00000262623:T882M	ENSP00000262623:T882M	T	-	2	0	ATP4A	40735885	0.939000	0.31865	0.994000	0.49952	0.991000	0.79684	1.839000	0.39220	2.377000	0.81083	0.555000	0.69702	ACG		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	435	0	0	0	1	0	5	435					A	36044045	G	A	36044045	3	1	19	1	0	0	0	0	1	0	0	0	1146	1145	40	1	482	1	ATP4A	19	36044045	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	2420820	36044045	23084938	102	2368											
ATP4A	495	broad.mit.edu	37	chr19	36051809	36051809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggtgacgacaaccacaGcaatgagagcgattgccagg	13	11	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36051809G>A	ENST00000262623.3	-	5	474	c.446C>T	c.(445-447)gCt>gTt	p.A149V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	149					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GACAACCACAGCAATGAGAGC	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(445-447)gCt>gTt		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						132	114	120					19																	36051809		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051809G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.446C>T	19.37:g.36051809G>A	ENSP00000262623:p.Ala149Val						p.A149V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	474	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		149					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.446C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	14.83	2.651116	0.47362	.	.	ENSG00000105675	ENST00000262623	D	0.90563	-2.69	3.22	3.22	0.36961	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000018	T	0.81735	0.4885	N	0.17838	0.53	0.58432	D	0.999991	B	0.19445	0.036	B	0.27796	0.083	T	0.73704	-0.3899	10	0.10377	T	0.69	.	11.9305	0.52843	0.0:0.0:1.0:0.0	.	149	P20648	ATP4A_HUMAN	V	149	ENSP00000262623:A149V	ENSP00000262623:A149V	A	-	2	0	ATP4A	40743649	0.998000	0.40836	0.990000	0.47175	0.830000	0.47004	4.954000	0.63631	1.620000	0.50308	0.197000	0.17608	GCT		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	387	0	0	0	1	0	5	387					A	36051809	G	A	36051809	3	1	19	1	0	0	0	0	1	0	0	0	1146	971	34	2	2733	2	ATP4A	19	36051809	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7764	36051809	23077174	103	2369											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			8	1145						8	1145	---	---	---	---	-	36255949	CTC	-	36255947	7	5	19	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-2L-AAQI-01A-12D-A397-08	204138	36255947	22873036	104	2370											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1212	0	0	0	1	0	8	1212					A	40395919	G	A	40395919	3	1	19	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	4139972	40395919	18733064	105	2371											
CCDC8	83987	broad.mit.edu	37	chr19	46914987	46914987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgattatctgcagcctcttCcctctggttatctgcagcct	7	14	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:46914987C>T	ENST00000307522.3	-	1	1854	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	361					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCAGCCTCTTCCCTCTGGTTA	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1081-1083)Gaa>Aaa		coiled-coil domain containing 8							115	117	116					19																	46914987		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914987C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1081G>A	19.37:g.46914987C>T	ENSP00000303158:p.Glu361Lys						p.E361K	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1854	-			361					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1081G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061247	0.19987	.	.	ENSG00000169515	ENST00000307522	T	0.11495	2.77	3.19	3.19	0.36642	.	0.455403	0.16199	N	0.225029	T	0.07007	0.0178	N	0.19112	0.55	0.21325	N	0.999721	B	0.25169	0.119	B	0.21546	0.035	T	0.31833	-0.9929	10	0.15066	T	0.55	0.0165	12.6394	0.56700	0.0:1.0:0.0:0.0	.	361	Q9H0W5	CCDC8_HUMAN	K	361	ENSP00000303158:E361K	ENSP00000303158:E361K	E	-	1	0	CCDC8	51606827	0.000000	0.05858	0.029000	0.17559	0.042000	0.13812	-0.412000	0.07132	2.093000	0.63338	0.297000	0.19635	GAA		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		101	613	0	0	0	1	0	101	613					T	46914987	C	T	46914987	3	4	19	1	0	0	0	0	1	0	0	0	2860	864	30	2	539	2	CCDC8	19	46914987	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	6519068	46914987	12213996	106	2372											
PLEKHA4	57664	broad.mit.edu	37	chr19	49340735	49340735	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagatctggggggaggggtCtcctggcgcgtggggtccga	22	8	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:49340735C>G	ENST00000263265.6	-	20	2706	c.2151G>C	c.(2149-2151)gaG>gaC	p.E717D	PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	717						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGAGGGGTCTCCTGGCGCG	0.672																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(2149-2151)gaG>gaC		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							29	37	34					19																	49340735		2200	4300	6500	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49340735C>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2151G>C	19.37:g.49340735C>G	ENSP00000263265:p.Glu717Asp					PLEKHA4_ENST00000355496.5_3'UTR	p.E717D	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	20	2706	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	717					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.2151G>C	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	12.76	2.035882	0.35893	.	.	ENSG00000105559	ENST00000263265	T	0.08370	3.1	4.1	0.204	0.15199	.	1.664920	0.03742	N	0.255152	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	10	0.39692	T	0.17	.	6.9353	0.24463	0.1931:0.4688:0.3382:0.0	.	717	Q9H4M7	PKHA4_HUMAN	D	717	ENSP00000263265:E717D	ENSP00000263265:E717D	E	-	3	2	PLEKHA4	54032547	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.065000	0.11617	0.057000	0.16193	0.299000	0.19835	GAG		0.672	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			5	322	0	0	0	1	0	5	322					G	49340735	C	G	49340735	3	3	19	1	0	0	0	0	1	0	0	0	12100	912	32	5	192	5	PLEKHA4	19	49340735	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2425748	49340735	9788248	107	2373											
RRAS	6237	broad.mit.edu	37	chr19	50139001	50139001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctcaccggacagcccGcaccagctgctcaaaagcct	9	17	2	0	rs538230538		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50139001G>A	ENST00000246792.3	-	5	664	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	188					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CGGACAGCCCGCACCAGCTGC	0.597																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(562-564)Cgg>Tgg		related RAS viral (r-ras) oncogene homolog							80	85	83					19																	50139001		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50139001G>A		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.562C>T	19.37:g.50139001G>A	ENSP00000246792:p.Arg188Trp						p.R188W	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	5	664	-			188					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.562C>T	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744428	0.69418	.	.	ENSG00000126458	ENST00000246792	T	0.79454	-1.27	4.85	4.85	0.62838	.	0.204104	0.34067	N	0.004286	D	0.90459	0.7012	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	D	0.92164	0.5738	10	0.87932	D	0	.	10.503	0.44817	0.0:0.0:0.6965:0.3035	.	188	P10301	RRAS_HUMAN	W	188	ENSP00000246792:R188W	ENSP00000246792:R188W	R	-	1	2	RRAS	54830813	0.312000	0.24545	0.994000	0.49952	0.740000	0.42216	2.016000	0.40971	2.509000	0.84616	0.491000	0.48974	CGG		0.597	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		6	454	0	0	0	1	0	6	454					A	50139001	G	A	50139001	3	1	19	1	0	0	0	0	1	0	0	0	13726	1086	38	1	102	1	RRAS	19	50139001	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	798266	50139001	8989982	108	2374											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T													gggaggggcccacggtctgtCcccaccgggtccagctcagc					rs201115105		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33	38	36					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	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.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	341	0	0	0	1	0	5	341					T	50462043	C	T	50462043	3	4	19	1	0	0	0	0	1	0	0	0	14357	855	30	2	896	2	SIGLEC11	19	50462043	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	323042	50462043	8666940	109	2375	15	2									
SIGLEC11	114132	broad.mit.edu	37	chr19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C													ggggcccacggtctgtccccAccgggtccagctcagcctgg					rs201935510	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			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)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31	37	35					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	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.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	327	0	0	0	1	0	5	327					C	50462047	A	C	50462047	3	2	19	1	0	0	0	0	1	0	0	0	14357	159	6	4	900	4	SIGLEC11	19	50462047	Missense_Mutation	SNP	A	TCGA-2L-AAQI-01A-12D-A397-08	4	50462047	8666936	110	2376	15	2									
LILRB1	10859	broad.mit.edu	37	chr19	55144109	55144109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccaacttcaccctgggcCctgtgagccgctcctacggg	12	16	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:55144109C>A	ENST00000396331.1	+	7	1213	c.856C>A	c.(856-858)Cct>Act	p.P286T	LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	286	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACCCTGGGCCCTGTGAGCCG	0.632										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(856-858)Cct>Act		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							51	56	54					19																	55144109		2203	4298	6501	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144109C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.856C>A	19.37:g.55144109C>A	ENSP00000379622:p.Pro286Thr	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T	p.P286T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1213	+			286			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.856C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770833	0.15983	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	2.03	-1.43	0.08884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.672928	0.12913	N	0.428831	T	0.31358	0.0794	M	0.91090	3.175	0.09310	N	1	B;D;P;P;D	0.65815	0.387;0.969;0.767;0.83;0.995	B;P;P;P;D	0.67382	0.241;0.868;0.53;0.646;0.951	T	0.07809	-1.0753	10	0.66056	D	0.02	.	4.745	0.13033	0.0:0.4872:0.0:0.5128	.	286;286;286;286;286	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	286;286;286;286;286;286;286;286;322;286;286	ENSP00000379614:P286T;ENSP00000391514:P286T;ENSP00000409968:P286T;ENSP00000379622:P286T;ENSP00000379618:P286T;ENSP00000315997:P286T;ENSP00000405243:P286T;ENSP00000379623:P286T;ENSP00000395004:P322T;ENSP00000379610:P286T;ENSP00000379608:P286T	ENSP00000315997:P286T	P	+	1	0	LILRB1	59835921	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-1.269000	0.02834	-0.418000	0.07450	0.194000	0.17425	CCT		0.632	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			25	357	1	0	1.77063e-15	1	1.88789e-15	25	357					A	55144109	C	A	55144109	3	1	19	1	0	0	0	0	1	0	0	0	8822	623	22	3	874	3	LILRB1	19	55144109	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	4682062	55144109	3984874	111	2377											
SIRPB1	10326	broad.mit.edu	37	chr20	1551562	1551562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgacaggtgagcaccacatCgtccctgtgggcacaggtgt	13	12	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:1551562C>A	ENST00000381605.4	-	4	1037	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	325	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCACCACATCGTCCCTGTGG	0.567																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(973-975)Gat>Tat		signal-regulatory protein beta 1							208	177	187					20																	1551562		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551562C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.973G>T	20.37:g.1551562C>A	ENSP00000371018:p.Asp325Tyr					SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.D325Y	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			4	1037	-			325			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.973G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.350409	0.24512	.	.	ENSG00000101307	ENST00000381605	T	0.00619	6.18	2.51	-1.7	0.08159	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.007950	0.07968	N	0.983480	T	0.02380	0.0073	M	0.80982	2.52	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.35525	-0.9785	10	0.87932	D	0	.	3.1495	0.06483	0.0:0.4093:0.2185:0.3722	.	325	O00241	SIRB1_HUMAN	Y	325	ENSP00000371018:D325Y	ENSP00000371018:D325Y	D	-	1	0	SIRPB1	1499562	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.453000	0.02383	-0.565000	0.06061	-1.575000	0.00869	GAT		0.567	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		53	336	1	0	1.46156e-29	1	1.60075e-29	53	336					A	1551562	C	A	1551562	3	1	19	1	0	0	0	0	1	0	0	0	14383	884	31	3	231	3	SIRPB1	20	1551562	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		1551562	61473958	112	2378											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	437						9	437	---	---	---	---	-	25657232	TG	-	25657231	7	5	19	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-2L-AAQI-01A-12D-A397-08	24105669	25657231	37368289	113	2379											
DNMT3B	1789	broad.mit.edu	37	chr20	31388072	31388072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggggaatatcaaatacGtgaacgacgtgaggaacatc	12	7	1	2	rs201657518		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388072G>A	ENST00000328111.2	+	17	2194	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	625	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATCAAATACGTGAACGACGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22250	0.0		0.001	False		,,,				2504	0.0					ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1873-1875)Gtg>Atg		DNA (cytosine-5-)-methyltransferase 3 beta							209	181	190					20																	31388072		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388072G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1873G>A	20.37:g.31388072G>A	ENSP00000328547:p.Val625Met					DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR	p.V625M	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			17	2194	+			625					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1873G>A	CCDS13205.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.1	4.372608	0.82573	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.058115	0.64402	D	0.000002	D	0.83133	0.5188	M	0.66439	2.03	0.80722	D	1	D;P;P;P;B;P;P	0.55800	0.973;0.952;0.909;0.778;0.435;0.491;0.689	P;P;P;B;B;B;P	0.51193	0.523;0.641;0.662;0.322;0.146;0.322;0.554	D	0.84179	0.0438	10	0.59425	D	0.04	-22.0454	19.0797	0.93177	0.0:0.0:1.0:0.0	.	529;563;324;617;605;605;625	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	M	625;605;605;563;529;605;617	ENSP00000328547:V625M;ENSP00000313397:V605M;ENSP00000337764:V605M;ENSP00000403169:V563M;ENSP00000412305:V529M;ENSP00000345105:V605M;ENSP00000201963:V617M	ENSP00000201963:V617M	V	+	1	0	DNMT3B	30851733	1.000000	0.71417	0.951000	0.38953	0.794000	0.44872	7.973000	0.88032	2.810000	0.96702	0.650000	0.86243	GTG		0.493	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		63	406	0	0	0	1	0	63	406					A	31388072	G	A	31388072	3	1	19	1	0	0	0	0	1	0	0	0	4693	1145	40	1	1975	1	DNMT3B	20	31388072	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	5730841	31388072	31637448	114	2380											
DNMT3B	1789	broad.mit.edu	37	chr20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgacttggtgattggcGgaagcccatgcaacgatctc	11	10	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185	187	186					20																	31388677		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388677G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg					DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR	p.G648R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	884	0	0	0	1	0	6	884					A	31388677	G	A	31388677	3	1	19	1	0	0	0	0	1	0	0	0	4693	1117	39	1	2048	1	DNMT3B	20	31388677	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	605	31388677	31636843	115	2381											
BPIL1	80341	broad.mit.edu	37	chr20	31600712	31600712	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attttactttcaaggtctttCggtgagcggatctccttgtt	9	8	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31600712C>A	ENST00000170150.3	+	4	502	c.307C>A	c.(307-309)Cgc>Agc	p.R103S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	103						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CAAGGTCTTTCGGTGAGCGGA	0.562																																						ENST00000170150.3																			0											c.e4+1		BPI fold containing family B, member 2							99	96	97					20																	31600712		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31600712C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.308+1C>A	20.37:g.31600712C>A							p.R103_splice	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			4	502	+			103					Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37	c.308_splice	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815585	0.16607	.	.	ENSG00000078898	ENST00000170150	T	0.05199	3.48	4.5	1.47	0.22746	.	1.037060	0.07697	N	0.939607	T	0.04770	0.0129	N	0.20986	0.625	0.31735	N	0.636493	B	0.24368	0.102	B	0.28638	0.092	T	0.40572	-0.9556	10	0.28530	T	0.3	-1.5689	3.6958	0.08364	0.1945:0.5998:0.0:0.2057	.	103	Q8N4F0	BPIB2_HUMAN	S	103	ENSP00000170150:R103S	ENSP00000170150:R103S	R	+	1	0	BPIFB2	31064373	0.004000	0.15560	0.961000	0.40146	0.092000	0.18411	-0.790000	0.04604	0.615000	0.30124	-0.140000	0.14226	CGC		0.562	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Missense_Mutation	5	495	1	0	0.184627	1	0.185781	5	495					A	31600712	C	A	31600712	5	1	19	1	0	0	0	0	0	0	1	0	1495	898	31	3	317	3	BPIL1	20	31600712	Splice_Site	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	212035	31600712	31424808	116	2382											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31984682	31984682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaaaaaatgttgaaaagtCggtccagcagccagcctgga	10	8	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31984682C>T	ENST00000357886.4	-	2	342	c.189G>A	c.(187-189)ccG>ccA	p.P63P	CDK5RAP1_ENST00000346416.2_Silent_p.P63P|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.P63P|CDK5RAP1_ENST00000477105.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	63	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTTGAAAAGTCGGTCCAGCAG	0.517																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(187-189)ccG>ccA		CDK5 regulatory subunit associated protein 1							79	80	79					20																	31984682		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31984682C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.189G>A	20.37:g.31984682C>T						CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.P63P|CDK5RAP1_ENST00000339269.5_Silent_p.P63P	p.P63P			Q96SZ6	CK5P1_HUMAN			2	342	-			63			CDK5 activation inhibition.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.189G>A																																																																																					0.517	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		65	328	0	0	0	1	0	65	328					T	31984682	C	T	31984682	2	4	19	1	0	0	0	0	0	0	0	1	3154	871	31	1		1	CDK5RAP1	20	31984682	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	383970	31984682	31040838	117	2383											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	339						10	339	---	---	---	---	T	58452519	-	T	58452518	7	5	19	1	0	1	1	0	0	0	0	0	15484	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	26467836	58452518	4573002	118	2384											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	7	16	2	2	rs368405359		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1831-1833)aaC>aaT		cadherin 4, type 1, R-cadherin (retinal)		C		1,4405	2.1+/-5.4	0,1,2202	131	141	138		1833	-7	0.8	20		138	0,8600		0,0,4300	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		611/917	60503309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503309C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1833C>T	20.37:g.60503309C>T						CDH4_ENST00000543233.1_Silent_p.N537N	p.N611N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	1921	+			611			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1833C>T	CCDS13488.1																																																																																				0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		110	876	0	0	0	1	0	110	876					T	60503309	C	T	60503309	2	4	19	1	0	0	0	0	0	0	0	1	3121	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2050791	60503309	2522211	119	2385											
C20orf151	140893	broad.mit.edu	37	chr20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-													cagggtggcccctggggagaTtttggccactggagatgtcc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:60990678delT	ENST00000252998.1	-	8	739	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	195						extracellular space (GO:0005615)											CCTGGGGAGATTTTGGCCACT	0.677																																						ENST00000252998.1																			0											c.(583-585)tcfs		RBBP8 N-terminal like							60	68	65					20																	60990678		2203	4299	6502	SO:0001589	frameshift_variant	140893							g.chr20:60990678delT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.583delA	20.37:g.60990678delT	ENSP00000252998:p.Ile195fs						p.I195fs	NM_080833.2	NP_543023.2					8	739	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.583delA	CCDS13498.1																																																																																				0.677	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		9	533						9	533	---	---	---	---	-	60990678	T	-	60990678	7	5	19	1	0	1	0	1	0	0	0	0	2098	1493	52	0	1439	0	C20orf151	20	60990678	Frame_Shift_Del	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	487369	60990678	2034842	120	2386											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	726						7	726	---	---	---	---	-	61833652	CCT	-	61833650	7	5	19	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-2L-AAQI-01A-12D-A397-08	842972	61833650	1191870	121	2387											
PRIC285	85441	broad.mit.edu	37	chr20	62193693	62193693	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgatgctggtgaccagCggggacgcctcctctagtcc	14	13	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:62193693C>A	ENST00000467148.1	-	9	6414	c.6345G>T	c.(6343-6345)ccG>ccT	p.P2115P	HELZ2_ENST00000427522.2_Silent_p.P1546P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2115					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGTGACCAGCGGGGACGCCT	0.682																																						ENST00000467148.1																			0											c.(6343-6345)ccG>ccT		helicase with zinc finger 2, transcriptional coactivator							11	12	12					20																	62193693		2151	4259	6410	SO:0001819	synonymous_variant	85441							g.chr20:62193693C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6345G>T	20.37:g.62193693C>A						HELZ2_ENST00000427522.2_Silent_p.P1546P	p.P2115P	NM_001037335.2	NP_001032412.2					9	6414	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6345G>T	CCDS33508.1																																																																																				0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		10	75	1	0	2.17888e-05	1	2.26322e-05	10	75					A	62193693	C	A	62193693	2	1	19	1	0	0	0	0	0	0	0	1	12532	755	27	3		3	PRIC285	20	62193693	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	360043	62193693	831827	122	2388											
GCFC1	94104	broad.mit.edu	37	chr21	34118020	34118020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcatattctcaaagtcacGacattttgcctaaaagacat	5	10	2	1	rs141072916		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr21:34118020G>A	ENST00000331923.4	-	12	2122	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R645C|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	645					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCAAAGTCACGACATTTTGCC	0.363																																						ENST00000331923.4																			0											c.(1933-1935)Cgt>Tgt		PAX3 and PAX7 binding protein 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	161	146	151		1933,1933	5.7	1	21	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GCFC1	NM_013329.3,NM_016631.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	645/816,645/918	34118020	1,13005	2203	4300	6503	SO:0001583	missense	94104							g.chr21:34118020G>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1933C>T	21.37:g.34118020G>A	ENSP00000328992:p.Arg645Cys					PAXBP1_ENST00000290178.4_Missense_Mutation_p.R645C	p.R645C	NM_016631.3	NP_057715.2					12	2122	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1933C>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183194	0.38511	0.0	1.16E-4	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.44482	0.92;0.92	5.74	5.74	0.90152	GC-rich sequence DNA-binding factor domain (1);	0.361931	0.33691	N	0.004658	T	0.24547	0.0595	N	0.04959	-0.14	0.47476	D	0.999433	B;B;B	0.16603	0.015;0.018;0.006	B;B;B	0.10450	0.003;0.005;0.003	T	0.06250	-1.0837	10	0.54805	T	0.06	-8.4519	13.1499	0.59484	0.0737:0.0:0.9263:0.0	.	645;645;154	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	C	645	ENSP00000328992:R645C;ENSP00000290178:R645C	ENSP00000290178:R645C	R	-	1	0	GCFC1	33039891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.840000	0.48215	2.873000	0.98535	0.561000	0.74099	CGT		0.363	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		40	290	0	0	0	1	0	40	290					A	34118020	G	A	34118020	3	1	19	1	0	0	0	0	1	0	0	0	6317	1058	37	1	966	1	GCFC1	21	34118020	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		34118020	14011875	123	2389											
PRODH	5625	broad.mit.edu	37	chr22	18910340	18910340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccccacctgcagcaccGccacctccagcttggtgtcc	9	20	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:18910340G>A	ENST00000357068.6	-	6	1104	c.839C>T	c.(838-840)gCg>gTg	p.A280V	PRODH_ENST00000420436.1_Missense_Mutation_p.A172V|PRODH_ENST00000334029.2_Missense_Mutation_p.A172V	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	280					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTGCAGCACCGCCACCTCCAG	0.657																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(838-840)gCg>gTg		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						74	72	73					22																	18910340		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18910340G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.839C>T	22.37:g.18910340G>A	ENSP00000349577:p.Ala280Val					PRODH_ENST00000334029.2_Missense_Mutation_p.A172V|PRODH_ENST00000420436.1_Missense_Mutation_p.A172V	p.A280V	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			6	1104	-			280					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.839C>T	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640215	0.47153	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.33216	1.42;1.52	4.63	-0.256	0.12984	Proline dehydrogenase (1);	0.318671	0.31554	N	0.007443	T	0.21103	0.0508	L	0.55481	1.735	0.21325	N	0.99972	B;B;B	0.21606	0.01;0.021;0.058	B;B;B	0.17433	0.004;0.008;0.018	T	0.11036	-1.0604	10	0.33141	T	0.24	-6.7007	3.3335	0.07093	0.3008:0.0:0.5184:0.1808	.	196;280;172	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	280;73;121	ENSP00000349577:A280V;ENSP00000396806:A121V	ENSP00000334726:A172V	A	-	2	0	PRODH	17290340	0.752000	0.28338	0.264000	0.24511	0.723000	0.41478	1.170000	0.31883	0.162000	0.19483	0.638000	0.83543	GCG		0.657	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		5	315	0	0	0	1	0	5	315					A	18910340	G	A	18910340	3	1	19	1	0	0	0	0	1	0	0	0	12595	1087	38	1	999	1	PRODH	22	18910340	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		18910340	32394226	124	2390											
MPPED1	758	broad.mit.edu	37	chr22	43870629	43870629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcagcctgccctaCgagtacaagatcgtgatcgc	11	14	0	2	rs532827143	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000439548.1_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041					ENST00000417669.1																			1	Substitution - Nonsense(1)	p.Y140*(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(418-420)taC>taT		metallophosphoesterase domain containing 1							98	100	100					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870629C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.420C>T	22.37:g.43870629C>T						MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000439548.1_5'UTR	p.Y140Y			O15442	MPPD1_HUMAN			4	864	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	140					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.420C>T	CCDS46723.1																																																																																				0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		6	561	0	0	0	1	0	6	561					T	43870629	C	T	43870629	2	4	19	1	0	0	0	0	0	0	0	1	9782	547	19	1		1	MPPED1	22	43870629	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	24960289	43870629	7433937	125	2391											
KDM6A	7403	broad.mit.edu	37	chrX	44879977	44879977	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagtctagtttaaaggTaggttgttgggttttttcaa	11	3	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:44879977T>A	ENST00000377967.4	+	6	605		c.e6+2		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTTTAAAGGTAGGTTGTTGG	0.318			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(12)|p.0?(6)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e6+2		lysine (K)-specific demethylase 6A							141	131	134					X																	44879977		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44879977T>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.564+2T>A	X.37:g.44879977T>A						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			6	605	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145474	0.77888	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9212	0.70838	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44764921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.392000	0.66272	1.973000	0.57446	0.486000	0.48141	.		0.318	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	85	281	0	0	0	1	0	85	281					A	44879977	T	A	44879977	5	1	19	1	0	0	0	0	0	0	1	0	8167	1652	57	5	588	5	KDM6A	23	44879977	Splice_Site	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08		44879977	110390583	126	2392											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		10	270						10	270	---	---	---	---	-	54011407	CTC	-	54011405	7	5	19	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-2L-AAQI-01A-12D-A397-08	9131428	54011405	101259155	127	2393											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	813						7	813	---	---	---	---	C	107977803	-	C	107977802	7	5	19	1	0	1	1	0	0	0	0	0	7872	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	53966397	107977802	47292758	128	2394											
MAGEC1	9947	broad.mit.edu	37	chrX	140996449	140996449	+	Frame_Shift_Del	DEL	T	T	-													ttaagaggaaagtagtagagTttttggccatgctaaagaat							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:140996449delT	ENST00000285879.4	+	4	3545	c.3259delT	c.(3259-3261)tttfs	p.F1087fs	MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1087	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTAGAGTTTTTGGCCAT	0.468										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3259-3261)ttfs		melanoma antigen family C, 1							150	139	143					X																	140996449		2203	4300	6503	SO:0001589	frameshift_variant	9947						protein binding	g.chrX:140996449delT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3259delT	X.37:g.140996449delT	ENSP00000285879:p.Phe1087fs	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs	p.F1087fs	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3545	+	Acute lymphoblastic leukemia(192;6.56e-05)		1087			MAGE.		A0PK03|O75451|Q8TCV4	Frame_Shift_Del	DEL	ENST00000285879.4	37	c.3259delT	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	634						8	634	---	---	---	---	-	140996449	T	-	140996449	7	5	19	1	0	1	0	1	0	0	0	0	9221	1725	60	0	3265	0	MAGEC1	23	140996449	Frame_Shift_Del	DEL	T	TCGA-2L-AAQI-01A-12D-A397-08	33018647	140996449	14274111	129	2395											
ENO1	2023	broad.mit.edu	37	chr1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaacctctgctccaatgcGcatggcttccctgaagtttg	9	12	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(547-549)Cgc>Tgc		enolase 1, (alpha)							141	132	135					1																	8926458		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926458G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.547C>T	1.37:g.8926458G>A	ENSP00000234590:p.Arg183Cys						p.R183C	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	666	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	183			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.547C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849934	0.71603	.	.	ENSG00000074800	ENST00000234590	T	0.58358	0.34	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.052249	0.85682	N	0.000000	T	0.63792	0.2541	M	0.87097	2.86	0.80722	D	1	B;B;B;B;B	0.31769	0.194;0.238;0.339;0.161;0.194	B;B;B;B;B	0.34991	0.102;0.123;0.193;0.061;0.102	T	0.69720	-0.5069	10	0.87932	D	0	-2.9305	18.013	0.89230	0.0:0.0:1.0:0.0	.	87;150;21;90;183	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	C	183	ENSP00000234590:R183C	ENSP00000234590:R183C	R	-	1	0	ENO1	8849045	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.984000	0.88150	2.492000	0.84095	0.563000	0.77884	CGC		0.512	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		6	452	0	0	0	1	0	6	452					A	8926458	G	A	8926458	3	1	20	1	0	0	0	0	1	0	0	0	5139	1087	38	1	781	1	ENO1	1	8926458	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8926458	240324163	1	2396											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854342	12854342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtaagctggtcaattatcTaacgccgattaaatatctca	6	8	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:12854342T>A	ENST00000332296.7	+	3	669	c.566T>A	c.(565-567)cTa>cAa	p.L189Q	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	189					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAATTATCTAACGCCGATT	0.408																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(565-567)cTa>cAa		PRAME family member 1							191	204	199					1																	12854342		2203	4298	6501	SO:0001583	missense	65121							g.chr1:12854342T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.566T>A	1.37:g.12854342T>A	ENSP00000332134:p.Leu189Gln						p.L189Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	669	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	189					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.566T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.962	1.223003	0.22457	.	.	ENSG00000116721	ENST00000332296	T	0.16073	2.37	1.74	-0.417	0.12347	.	2.422510	0.01980	N	0.044713	T	0.13543	0.0328	N	0.02539	-0.55	0.09310	N	1	D	0.65815	0.995	P	0.60949	0.881	T	0.10064	-1.0646	10	0.32370	T	0.25	.	2.8483	0.05550	0.0:0.4951:0.2994:0.2055	.	189	O95521	PRAM1_HUMAN	Q	189	ENSP00000332134:L189Q	ENSP00000332134:L189Q	L	+	2	0	PRAMEF1	12776929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.504000	0.06375	-0.102000	0.12197	-0.427000	0.05922	CTA		0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		11	2008	0	0	0	1	0	11	2008					A	12854342	T	A	12854342	3	1	20	1	0	0	0	0	1	0	0	0	12472	1522	53	5	572	5	PRAMEF1	1	12854342	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	3927884	12854342	236396279	2	2397											
PRAMEF22	401940	broad.mit.edu	37	chr1	13330615	13330615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtaacggataaactctActatcatacacggccagcac	7	12	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:13330615A>G	ENST00000353410.5	-	2	691	c.665T>C	c.(664-666)gTa>gCa	p.V222A	PRAMEF3_ENST00000376173.3_Missense_Mutation_p.V224A			Q5TYW8	PRAM3_HUMAN	PRAME family member 3	222					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATAAACTCTACTATCATACA	0.423																																						ENST00000376173.3																			0				ovary(1)	1						c.(670-672)gTa>gCa		PRAME family member 3							112	72	90					1																	13330615		1378	1647	3025	SO:0001583	missense	401940							g.chr1:13330615A>G			1p36.21	2013-01-17			ENSG00000204503			"-"	14087	protein-coding gene	gene with protein product							Standard			Approved		uc001aut.1	Q5TYW8	OTTHUMG00000009404	ENST00000353410.5:c.665T>C	1.37:g.13330615A>G	ENSP00000334892:p.Val222Ala					PRAMEF3_ENST00000353410.5_Missense_Mutation_p.V222A	p.V224A	NM_001013692.1	NP_001013714.3				UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	691	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)							Missense_Mutation	SNP	ENST00000353410.5	37	c.671T>C		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.515063	0.00151	.	.	ENSG00000204503	ENST00000353410;ENST00000376173	T;T	0.15372	2.43;2.43	1.32	-2.63	0.06133	.	0.521004	0.18063	N	0.152879	T	0.03390	0.0098	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.02654	T	1	.	2.6954	0.05133	0.366:0.2703:0.3637:0.0	.	222	Q5TYW8	PRAM3_HUMAN	A	222;224	ENSP00000334892:V222A;ENSP00000365343:V224A	ENSP00000334892:V222A	V	-	2	0	PRAMEF3	13203202	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.250000	0.02885	-0.924000	0.03780	0.136000	0.15936	GTA		0.423	PRAMEF3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000026088.1	NM_001013692		8	1023	0	0	0	1	0	8	1023					G	13330615	A	G	13330615	3	3	20	1	0	0	0	0	1	0	0	0	12483	391	14	4	2240	4	PRAMEF22	1	13330615	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	476273	13330615	235920006	3	2398											
IGSF21	84966	broad.mit.edu	37	chr1	18692048	18692048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgcgccacagccGcaccccgagcagtgacggca	10	18	0	1	rs149943630		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:18692048G>A	ENST00000251296.1	+	6	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	291						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19244	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(871-873)cGc>cAc		immunoglobin superfamily, member 21		G	HIS/ARG	0,4406		0,0,2203	108	98	102		872	-0.3	1	1	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGSF21	NM_032880.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	291/468	18692048	2,13004	2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692048G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.872G>A	1.37:g.18692048G>A	ENSP00000251296:p.Arg291His						p.R291H	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1255	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	291					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.872G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473759	0.12521	0.0	2.33E-4	ENSG00000117154	ENST00000251296	T	0.52526	0.66	4.28	-0.3	0.12804	.	0.378221	0.31233	N	0.008016	T	0.15998	0.0385	N	0.01576	-0.805	0.27573	N	0.949829	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	10	0.17832	T	0.49	-11.9272	8.3841	0.32491	0.5998:0.0:0.4002:0.0	.	291	Q96ID5	IGS21_HUMAN	H	291	ENSP00000251296:R291H	ENSP00000251296:R291H	R	+	2	0	IGSF21	18564635	0.997000	0.39634	0.989000	0.46669	0.994000	0.84299	2.560000	0.45896	0.064000	0.16427	0.561000	0.74099	CGC		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		5	304	0	0	0	1	0	5	304					A	18692048	G	A	18692048	3	1	20	1	0	0	0	0	1	0	0	0	7629	1087	38	1	894	1	IGSF21	1	18692048	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5361433	18692048	230558573	4	2399											
KIAA1522	57648	broad.mit.edu	37	chr1	33237860	33237860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccccacctgtggcccGcaagccgtctgtgggagtcc	13	17	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:33237860G>A	ENST00000373480.1	+	6	3006	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H	KIAA1522_ENST00000401073.2_Missense_Mutation_p.R1027H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|YARS_ENST00000469100.1_5'Flank|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	968	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTGTGGCCCGCAAGCCGTCT	0.662																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3079-3081)cGc>cAc		KIAA1522							30	36	34					1																	33237860		1900	4100	6000	SO:0001583	missense	57648							g.chr1:33237860G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2903G>A	1.37:g.33237860G>A	ENSP00000362579:p.Arg968His					KIAA1522_ENST00000373480.1_Missense_Mutation_p.R968H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|KIAA1522_ENST00000294521.3_Intron	p.R1027H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	3150	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	968					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3080G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043295	0.75732	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.16597	2.33;2.34;2.35	5.05	4.14	0.48551	.	0.086750	0.45867	D	0.000333	T	0.20941	0.0504	M	0.61703	1.905	0.30845	N	0.73524	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.46049	0.502;0.502;0.502	T	0.16541	-1.0399	10	0.46703	T	0.11	-11.6125	8.9717	0.35910	0.2107:0.0:0.7892:0.0	.	979;968;1027	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	1027;979;968	ENSP00000383851:R1027H;ENSP00000362580:R979H;ENSP00000362579:R968H	ENSP00000362579:R968H	R	+	2	0	KIAA1522	33010447	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.416000	0.52707	1.503000	0.48686	0.650000	0.86243	CGC		0.662	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			4	177	0	0	0	1	0	4	177					A	33237860	G	A	33237860	3	1	20	1	0	0	0	0	1	0	0	0	8268	1087	38	1	3102	1	KIAA1522	1	33237860	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	14545812	33237860	216012761	5	2400											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	245						7	245	---	---	---	---	-	46184898	AC	-	46184897	7	5	20	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-2L-AAQJ-01A-12D-A397-08	12947037	46184897	203065724	6	2401											
NRD1	4898	broad.mit.edu	37	chr1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-													tgtatttagtatcttaccccAaaaaaattttcccataggat							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53	55	54					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	723						7	723	---	---	---	---	-	52290962	A	-	52290962	7	5	20	1	0	1	0	1	0	0	0	0	10687	130	5	0	2526	0	NRD1	1	52290962	Frame_Shift_Del	DEL	A	TCGA-2L-AAQJ-01A-12D-A397-08	6106065	52290962	196959659	7	2402											
ATP5F1	515	broad.mit.edu	37	chr1	111992194	111992194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtactttccgccgccGccacagcgggtaaggggtat	16	11	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:111992194G>A	ENST00000369722.3	+	1	637	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	WDR77_ENST00000497278.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000235090.5_5'Flank|WDR77_ENST00000411751.2_5'Flank|ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	11					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCGCCGCCGCCACAGCGGG	0.577																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(31-33)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							76	78	77					1																	111992194		2203	4300	6503	SO:0001583	missense	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111992194G>A	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.31G>A	1.37:g.111992194G>A	ENSP00000358737:p.Ala11Thr					ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|ATP5F1_ENST00000369721.4_3'UTR	p.A11T	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	637	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	11					Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	c.31G>A	CCDS836.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843991	0.71488	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.31510	1.49;1.51	5.73	4.82	0.62117	.	0.250346	0.33650	N	0.004681	T	0.09202	0.0227	L	0.54323	1.7	0.20074	N	0.999938	P;P	0.48640	0.913;0.913	B;B	0.28385	0.089;0.089	T	0.11817	-1.0572	10	0.24483	T	0.36	.	11.2813	0.49197	0.0844:0.0:0.9156:0.0	.	11;11	Q08ET0;P24539	.;AT5F1_HUMAN	T	11	ENSP00000358737:A11T;ENSP00000420366:A11T	ENSP00000358737:A11T	A	+	1	0	ATP5F1	111793717	0.986000	0.35501	1.000000	0.80357	0.867000	0.49689	2.836000	0.48183	1.562000	0.49601	0.655000	0.94253	GCC		0.577	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		6	450	0	0	0	1	0	6	450					A	111992194	G	A	111992194	3	1	20	1	0	0	0	0	1	0	0	0	1153	1087	38	1	33	1	ATP5F1	1	111992194	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	59701232	111992194	137258427	8	2403											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G													ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		11	349						11	349	---	---	---	---	G	112524445	-	G	112524444	7	5	20	1	0	1	1	0	0	0	0	0	8050	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	532250	112524444	136726177	9	2404											
KPRP	448834	broad.mit.edu	37	chr1	152733552	152733552	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagggagacttggcgCagccccagcccatgctgggg	15	15	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152733552C>A	ENST00000606109.1	+	1	1516	c.1488C>A	c.(1486-1488)cgC>cgA	p.R496R	KPRP_ENST00000368773.1_Silent_p.R496R			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGGCGCAGCCCCAGCC	0.647																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1486-1488)cgC>cgA		keratinocyte proline-rich protein							45	51	49					1																	152733552		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733552C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1488C>A	1.37:g.152733552C>A						KPRP_ENST00000606109.1_Silent_p.R496R	p.R496R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1546	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		496			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.1488C>A	CCDS30862.1																																																																																				0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		9	293	1	0	0.000274275	1	0.000282275	9	293					A	152733552	C	A	152733552	2	1	20	1	0	0	0	0	0	0	0	1	8466	697	25	3		3	KPRP	1	152733552	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	40209108	152733552	96517069	10	2405											
FDPS	2224	broad.mit.edu	37	chr1	155289625	155289625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaccccagtgtgaccgGcaaaattggcactgacatcc	12	12	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:155289625G>A	ENST00000356657.6	+	10	1127	c.965G>A	c.(964-966)gGc>gAc	p.G322D	FDPS_ENST00000447866.1_Missense_Mutation_p.G256D|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	322					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTGTGACCGGCAAAATTGGC	0.567																																						ENST00000356657.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(964-966)gGc>gAc		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						113	112	112					1																	155289625		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155289625G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.965G>A	1.37:g.155289625G>A	ENSP00000349078:p.Gly322Asp					FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D	p.G322D	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1127	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		322					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.965G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143251	0.77888	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.73681	-0.77;-0.77;-0.77	4.28	4.28	0.50868	Terpenoid synthase (2);	0.000000	0.44688	D	0.000439	D	0.88250	0.6386	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90597	0.4541	10	0.87932	D	0	-1.7784	14.6536	0.68817	0.0:0.0:1.0:0.0	.	322	P14324	FPPS_HUMAN	D	256;322;322	ENSP00000391755:G256D;ENSP00000357340:G322D;ENSP00000349078:G322D	ENSP00000349078:G322D	G	+	2	0	FDPS	153556249	1.000000	0.71417	0.997000	0.53966	0.488000	0.33401	9.276000	0.95745	2.673000	0.90976	0.561000	0.74099	GGC		0.567	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		7	584	0	0	0	1	0	7	584					A	155289625	G	A	155289625	3	1	20	1	0	0	0	0	1	0	0	0	5828	1203	42	2	999	2	FDPS	1	155289625	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2556073	155289625	93960996	11	2406											
BCAN	63827	broad.mit.edu	37	chr1	156621427	156621427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccatcatggaggacggaGgaggtggaagctccactcca	13	12	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:156621427G>A	ENST00000329117.5	+	7	1579	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G415R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	415	Glu-rich.				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)			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)					GGAGGACGGAGGAGGTGGAAG	0.557																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1243-1245)Gga>Aga		brevican							90	89	89					1																	156621427		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621427G>A	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.1243G>A	1.37:g.156621427G>A	ENSP00000331210:p.Gly415Arg					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G415R	p.G415R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			7	1579	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		415			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1243G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292944	0.23564	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.13196	2.61;3.33	5.17	3.16	0.36331	.	0.777525	0.10979	N	0.612889	T	0.02193	0.0068	N	0.11201	0.11	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.14578	0.005;0.011	T	0.43940	-0.9360	10	0.15066	T	0.55	-0.351	11.1054	0.48199	0.1755:0.0:0.8245:0.0	.	415;415	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	R	354;415;415	ENSP00000331210:G415R;ENSP00000354925:G415R	ENSP00000255029:G354R	G	+	1	0	BCAN	154888051	0.011000	0.17503	0.672000	0.29872	0.985000	0.73830	1.976000	0.40579	1.418000	0.47098	0.655000	0.94253	GGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		88	437	0	0	0	1	0	88	437					A	156621427	G	A	156621427	3	1	20	1	0	0	0	0	1	0	0	0	1346	1001	35	2	1265	2	BCAN	1	156621427	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1331802	156621427	92629194	12	2407											
TNN	63923	broad.mit.edu	37	chr1	175105027	175105027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggatttcttcaagcgatGgaggagctatgtggaaggct	15	6	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175105027G>T	ENST00000239462.4	+	16	3490	c.3377G>T	c.(3376-3378)tGg>tTg	p.W1126L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537																																						ENST00000239462.4																			1	Substitution - Nonsense(1)	p.W1126*(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3376-3378)tGg>tTg		tenascin N							151	151	151					1																	175105027		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105027G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3377G>T	1.37:g.175105027G>T	ENSP00000239462:p.Trp1126Leu						p.W1126L	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3490	+		Breast(1374;0.000962)	1126			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3377G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912742	0.92178	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.86865	-2.18	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.115488	0.64402	D	0.000005	D	0.96614	0.8895	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98254	1.0495	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	1126	Q9UQP3	TENN_HUMAN	L	1126;949	ENSP00000239462:W1126L	ENSP00000239462:W1126L	W	+	2	0	TNN	173371650	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.555000	0.86185	0.655000	0.94253	TGG		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		105	394	1	0	1.14936e-50	1	1.26738e-50	105	394					T	175105027	G	T	175105027	3	4	20	1	0	0	0	0	1	0	0	0	16375	1357	47	3	3435	3	TNN	1	175105027	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	18483600	175105027	74145594	13	2408											
TNR	7143	broad.mit.edu	37	chr1	175365862	175365862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagagatcacatattccGtcactgccatcggcccgtcc	9	14	2	1	rs138654492		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175365862G>A	ENST00000367674.2	-	5	1766	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TNR_ENST00000263525.2_Missense_Mutation_p.T353M			Q92752	TENR_HUMAN	tenascin R	353	Fibronectin type-III 1. {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)				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)					CACATATTCCGTCACTGCCAT	0.617																																						ENST00000367674.1																			0				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						c.(1057-1059)aCg>aTg		tenascin R		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83	83	83		1058	6	1	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/1359	175365862	1,13005	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365862G>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.1058C>T	1.37:g.175365862G>A	ENSP00000356646:p.Thr353Met					TNR_ENST00000263525.2_Missense_Mutation_p.T353M	p.T353M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1766	-	Renal(580;0.146)		353			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1058C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905250	0.92035	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.60171	0.21;0.21	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055941	0.64402	D	0.000001	T	0.77805	0.4185	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76277	-0.3018	10	0.46703	T	0.11	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	353	Q92752	TENR_HUMAN	M	353	ENSP00000356646:T353M;ENSP00000263525:T353M	ENSP00000263525:T353M	T	-	2	0	TNR	173632485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	ACG		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	531	0	0	0	1	0	7	531					A	175365862	G	A	175365862	3	1	20	1	0	0	0	0	1	0	0	0	16390	1145	40	1	3094	1	TNR	1	175365862	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	260835	175365862	73884759	14	2409											
PRG4	10216	broad.mit.edu	37	chr1	186276585	186276585	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccccaagaagcctgccccAactacccccaaggagcctgc	7	20	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:186276585A>C	ENST00000445192.2	+	7	1779	c.1734A>C	c.(1732-1734)ccA>ccC	p.P578P	PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367485.4_Silent_p.P485P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	578	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						AGCCTGCCCCAACTACCCCCA	0.642																																						ENST00000445192.2																			0				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						c.(1732-1734)ccA>ccC		proteoglycan 4							89	92	91					1																	186276585		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276585A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1734A>C	1.37:g.186276585A>C						PRG4_ENST00000367485.4_Silent_p.P485P|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367484.3_Intron	p.P578P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1779	+			578			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1734A>C	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	388	0	0	0	1	0	12	388					C	186276585	A	C	186276585	2	2	20	1	0	0	0	0	0	0	0	1	12528	117	5	4		4	PRG4	1	186276585	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	10910723	186276585	62974036	15	2410											
PM20D1	148811	broad.mit.edu	37	chr1	205819140	205819140	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcgatctggagacggTagggaaaactaggagcagca	14	9	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:205819140T>G	ENST00000367136.4	-	1	105	c.61A>C	c.(61-63)Acc>Ccc	p.T21P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	21					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGGAGACGGTAGGGAAAACT	0.602																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(61-63)Acc>Ccc		peptidase M20 domain containing 1							82	77	79					1																	205819140		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819140T>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.61A>C	1.37:g.205819140T>G	ENSP00000356104:p.Thr21Pro					PM20D1_ENST00000460624.1_5'UTR	p.T21P	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	105	-	Breast(84;0.201)		21					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.61A>C	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018274	0.35606	.	.	ENSG00000162877	ENST00000367136	T	0.07327	3.2	5.44	0.353	0.16058	.	0.566255	0.20291	N	0.095250	T	0.08714	0.0216	L	0.59436	1.845	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.20874	-1.0262	10	0.36615	T	0.2	.	3.7543	0.08579	0.1477:0.2187:0.0:0.6336	.	21	Q6GTS8	P20D1_HUMAN	P	21	ENSP00000356104:T21P	ENSP00000356104:T21P	T	-	1	0	PM20D1	204085763	0.961000	0.32948	0.001000	0.08648	0.039000	0.13416	0.604000	0.24164	-0.105000	0.12132	0.533000	0.62120	ACC		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		28	245	0	0	0	1	0	28	245					G	205819140	T	G	205819140	3	3	20	1	0	0	0	0	1	0	0	0	12170	1638	57	4	1499	4	PM20D1	1	205819140	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	19542555	205819140	43431481	16	2411											
KIAA1804	84451	broad.mit.edu	37	chr1	233507804	233507804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccagcacaagataaccGtgcaggcctctcccaacttg	7	14	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:233507804G>A	ENST00000366624.3	+	6	1834	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	NM_032435.2	NP_115811.2																					CAAGATAACCGTGCAGGCCTC	0.507																																						ENST00000366624.3																			0											c.(1573-1575)Gtg>Atg									88	88	88					1																	233507804		2203	4300	6503	SO:0001583	missense	0							g.chr1:233507804G>A																												ENST00000366624.3:c.1573G>A	1.37:g.233507804G>A	ENSP00000355583:p.Val525Met					MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	p.V525M	NM_032435.2	NP_115811.2					6	1834	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1573G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879032	0.91740	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13657	2.57;2.57	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.40886	0.1135	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.22173	-1.0224	10	0.54805	T	0.06	.	18.7231	0.91703	0.0:0.0:1.0:0.0	.	525;525	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	M	525	ENSP00000355582:V525M;ENSP00000355583:V525M	ENSP00000355582:V525M	V	+	1	0	RP5-862P8.2	231574427	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	9.636000	0.98440	2.654000	0.90174	0.650000	0.86243	GTG		0.507	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			92	234	0	0	0	1	0	92	234					A	233507804	G	A	233507804	3	1	20	1	0	0	0	0	1	0	0	0	8289	1145	40	1	1595	1	KIAA1804	1	233507804	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	27688664	233507804	15742817	17	2412											
APOB	338	broad.mit.edu	37	chr2	21231133	21231133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaatcactccattactAagctccagtgtatttttttc	4	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:21231133A>G	ENST00000233242.1	-	26	8734	c.8607T>C	c.(8605-8607)ctT>ctC	p.L2869L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2869					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)			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)					CTCCATTACTAAGCTCCAGTG	0.393																																						ENST00000233242.1																			0				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						c.(8605-8607)ctT>ctC		apolipoprotein B	Atorvastatin(DB01076)						163	164	163					2																	21231133		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231133A>G	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.8607T>C	2.37:g.21231133A>G							p.L2869L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2869					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8607T>C	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	685	0	0	0	1	0	9	685					G	21231133	A	G	21231133	2	3	20	1	0	0	0	0	0	0	0	1	785	349	13	4		4	APOB	2	21231133	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08		21231133	221968240	18	2413											
ITSN2	50618	broad.mit.edu	37	chr2	24533237	24533237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagactataagatgacCcatgaggcaatgctaaaaaa	7	8	2	4	rs550046461		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:24533237C>T	ENST00000355123.4	-	7	1012	c.569G>A	c.(568-570)gGg>gAg	p.G190E	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E|ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	190					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGATGACCCATGAGGCAA	0.343													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(568-570)gGg>gAg		intersectin 2							191	202	198					2																	24533237		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533237C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.569G>A	2.37:g.24533237C>T	ENSP00000347244:p.Gly190Glu					ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E	p.G190E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			7	1012	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		190					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.569G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868542	0.32977	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.59906	0.25;0.23;0.25;0.65;0.74;1.57	4.98	4.1	0.47936	.	0.809232	0.09677	U	0.770329	T	0.49779	0.1577	N	0.14661	0.345	0.24743	N	0.993024	B;B;B;P	0.40050	0.131;0.131;0.314;0.7	B;B;B;P	0.44477	0.028;0.028;0.041;0.451	T	0.48410	-0.9038	10	0.56958	D	0.05	.	13.9001	0.63797	0.0:0.1599:0.8401:0.0	.	190;190;190;190	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	E	190;190;190;189;190;190;176	ENSP00000354561:G190E;ENSP00000347244:G190E;ENSP00000370250:G190E;ENSP00000384499:G190E;ENSP00000391224:G190E;ENSP00000391715:G176E	ENSP00000347244:G190E	G	-	2	0	ITSN2	24386741	1.000000	0.71417	0.889000	0.34880	0.766000	0.43426	3.658000	0.54482	1.218000	0.43458	-0.499000	0.04595	GGG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		123	842	0	0	0	1	0	123	842					T	24533237	C	T	24533237	3	4	20	1	0	0	0	0	1	0	0	0	7957	623	22	2	4711	2	ITSN2	2	24533237	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3302104	24533237	218666136	19	2414											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	306						11	306	---	---	---	---	-	26693556	CTT	-	26693554	7	5	20	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-2L-AAQJ-01A-12D-A397-08	2160317	26693554	216505819	20	2415											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	262						7	262	---	---	---	---	-	39095413	CCA	-	39095411	7	5	20	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-2L-AAQJ-01A-12D-A397-08	12401857	39095411	204103962	21	2416											
BCL11A	53335	broad.mit.edu	37	chr2	60688782	60688782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcgtcttcatgtggCgcttcagcttgctggcctgg	14	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:60688782C>T	ENST00000335712.6	-	4	1492	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	422					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTCATGTGGCGCTTCAGCTT	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1264-1266)cGc>cAc		B-cell CLL/lymphoma 11A (zinc finger protein)							102	93	96					2																	60688782		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688782C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1265G>A	2.37:g.60688782C>T	ENSP00000338774:p.Arg422His					BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H	p.R422H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1492	-			422					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1265G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291279	0.40494	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.16743	3.17;3.17;2.32;5.19;5.19	5.27	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062434	0.64402	D	0.000010	T	0.41396	0.1157	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.98;0.997;0.998;0.997	T	0.34153	-0.9840	10	0.56958	D	0.05	-2.2443	15.0016	0.71476	0.1436:0.8564:0.0:0.0	.	388;91;388;422;422	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	422;458;388;91;422;388	ENSP00000349300:R422H;ENSP00000438303:R388H;ENSP00000443712:R91H;ENSP00000338774:R422H;ENSP00000351307:R388H	ENSP00000338774:R422H	R	-	2	0	BCL11A	60542286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.173000	0.42796	0.655000	0.94253	CGC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	420	0	0	0	1	0	8	420					T	60688782	C	T	60688782	3	4	20	1	0	0	0	0	1	0	0	0	1364	768	27	1	1352	1	BCL11A	2	60688782	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	21593371	60688782	182510591	22	2417											
SMYD5	10322	broad.mit.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-													cctcagaagaggaagaggaaGaggaggaggaggaggaagga							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		8	329						8	329	---	---	---	---	-	73453011	GAG	-	73453009	7	5	20	1	0	1	0	1	0	0	0	0	14875	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-2L-AAQJ-01A-12D-A397-08	12764227	73453009	169746364	23	2418											
C2orf65	130951	broad.mit.edu	37	chr2	74785998	74785998	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcggttggtctgcaactgccCagtctgcaaagagagcaacc	11	12	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:74785998C>G	ENST00000290536.5	-	11	1554	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	480					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCAACTGCCCAGTCTGCAAA	0.542																																						ENST00000290536.5																			0											c.(1438-1440)Ggg>Cgg		meiosis 1 associated protein							54	54	54					2																	74785998		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74785998C>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1438G>C	2.37:g.74785998C>G	ENSP00000290536:p.Gly480Arg					M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000464686.1_5'UTR	p.G480R	NM_138804.3	NP_620159.2					11	1554	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1438G>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246829	0.59103	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.31769	1.48;1.48;1.48	5.44	3.63	0.41609	.	0.496010	0.20385	N	0.093379	T	0.44561	0.1299	L	0.60455	1.87	0.32055	N	0.596454	D;D;D;D	0.71674	0.97;0.998;0.983;0.983	P;D;P;P	0.66979	0.758;0.948;0.758;0.822	T	0.50898	-0.8773	10	0.38643	T	0.18	-5.5072	7.2232	0.25999	0.0:0.7389:0.1715:0.0895	.	476;129;480;232	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	R	480;476;476;129	ENSP00000290536:G480R;ENSP00000386793:G476R;ENSP00000445662:G476R	ENSP00000290536:G480R	G	-	1	0	C2orf65	74639506	0.567000	0.26626	0.918000	0.36340	0.790000	0.44656	0.812000	0.27211	0.833000	0.34828	0.655000	0.94253	GGG		0.542	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		4	156	0	0	0	1	0	4	156					G	74785998	C	G	74785998	3	3	20	1	0	0	0	0	1	0	0	0	2191	594	21	5	158	5	C2orf65	2	74785998	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	1332989	74785998	168413375	24	2419											
SULT1C3	442038	broad.mit.edu	37	chr2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-													gaaaaacgctcccacgatggAaaaaaagccagaactgttta							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90	96	94					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		9	439						9	439	---	---	---	---	-	108863685	A	-	108863685	7	5	20	1	0	1	0	1	0	0	0	0	15430	246	9	0	37	0	SULT1C3	2	108863685	Frame_Shift_Del	DEL	A	TCGA-2L-AAQJ-01A-12D-A397-08	34077687	108863685	134335688	25	2420											
POTEE	445582	broad.mit.edu	37	chr2	131976091	131976091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctacagggagagcgGcaagagcaacgtgggcactt	14	12	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:131976091G>A	ENST00000356920.5	+	1	210	c.116G>A	c.(115-117)gGc>gAc	p.G39D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	39					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGGGAGAGCGGCAAGAGCAAC	0.582																																						ENST00000356920.5																			0											c.(115-117)gGc>gAc		POTE ankyrin domain family, member E							138	160	152					2																	131976091		2189	4298	6487	SO:0001583	missense	445582						ATP binding	g.chr2:131976091G>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.116G>A	2.37:g.131976091G>A	ENSP00000439189:p.Gly39Asp					PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D|PLEKHB2_ENST00000303908.3_Intron	p.G39D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	210	+			39					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.116G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.831	1.188519	0.21954	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	D;T	0.81908	-1.55;1.01	0.1	0.1	0.14510	.	.	.	.	.	T	0.81795	0.4898	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.70055	-0.4977	8	0.87932	D	0	.	.	.	.	.	39	Q6S8J3	POTEE_HUMAN	D	39	ENSP00000439189:G39D;ENSP00000443049:G39D	ENSP00000439189:G39D	G	+	2	0	AC131180.1	131692561	0.005000	0.15991	0.041000	0.18516	0.042000	0.13812	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	GGC		0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		7	911	0	0	0	1	0	7	911					A	131976091	G	A	131976091	3	1	20	1	0	0	0	0	1	0	0	0	12306	1203	42	2	118	2	POTEE	2	131976091	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23112406	131976091	111223282	26	2421											
MYO3B	140469	broad.mit.edu	37	chr2	171240259	171240259	+	Frame_Shift_Del	DEL	C	C	-													gggtgaaacgcgcctccaatCccccccacatatttgcatca							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:171240259delC	ENST00000408978.4	+	12	1368	c.1225delC	c.(1225-1227)cccfs	p.P410fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Del_p.P419fs|MYO3B_ENST00000409044.3_Frame_Shift_Del_p.P410fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	410	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CGCCTCCAATCCCCCCCACAT	0.463																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1252-1254)ccfs		myosin IIIB							123	115	118					2																	171240259		1925	4116	6041	SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240259delC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1225delC	2.37:g.171240259delC	ENSP00000386213:p.Pro410fs					MYO3B_ENST00000409044.3_Frame_Shift_Del_p.P410fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Del_p.P410fs	p.P419fs			Q8WXR4	MYO3B_HUMAN			12	1252	+			410			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Del	DEL	ENST00000408978.4	37	c.1252delC	CCDS42773.1																																																																																				0.463	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			7	435						7	435	---	---	---	---	-	171240259	C	-	171240259	7	5	20	1	0	1	0	1	0	0	0	0	10118	855	30	0	1271	0	MYO3B	2	171240259	Frame_Shift_Del	DEL	C	TCGA-2L-AAQJ-01A-12D-A397-08	39264168	171240259	71959114	27	2422											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		9	255						9	255	---	---	---	---	T	175213713	-	T	175213712	7	5	20	1	0	1	1	0	0	0	0	0	3441	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	3973453	175213712	67985661	28	2423											
CCDC141	285025	broad.mit.edu	37	chr2	179730541	179730541	+	Frame_Shift_Del	DEL	G	G	-													gtactccacactacgggacaGggtccgtccatactcctcag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:179730541delG	ENST00000420890.2	-	17	2794	c.2677delC	c.(2677-2679)ctgfs	p.L893fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.L318fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	893										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)			CTACGGGACAGGGTCCGTCCA	0.532																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2677-2679)tgfs		coiled-coil domain containing 141							352	315	328					2																	179730541		2203	4300	6503	SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179730541delG	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	ENST00000420890.2:c.2677delC	2.37:g.179730541delG	ENSP00000395995:p.Leu893fs					CCDC141_ENST00000295723.5_Frame_Shift_Del_p.L318fs	p.L893fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2794	-			318					H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Del	DEL	ENST00000420890.2	37	c.2677delC																																																																																					0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		7	1161						7	1161	---	---	---	---	-	179730541	G	-	179730541	7	5	20	1	0	1	0	1	0	0	0	0	2782	991	35	0	1703	0	CCDC141	2	179730541	Frame_Shift_Del	DEL	G	TCGA-2L-AAQJ-01A-12D-A397-08	4516829	179730541	63468832	29	2424											
COL5A2	1290	broad.mit.edu	37	chr2	189917736	189917736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttactccaggctgtccGtcaggaccctataaaaaatt	6	12	1	0	rs148430780	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:189917736G>A	ENST00000374866.3	-	39	2836	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	854					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTGTCCGTCAGGACCCT	0.398													G|||	9	0.00179712	0.0	0.0043	5008	,	,		16388	0.0		0.005	False		,,,				2504	0.001					ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2560-2562)gaC>gaT		collagen, type V, alpha 2		G		1,4405	2.1+/-5.4	0,1,2202	58	55	56		2562	-0.1	1	2	dbSNP_134	56	32,8568	21.0+/-64.5	0,32,4268	no	coding-synonymous	COL5A2	NM_000393.3		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		854/1500	189917736	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917736G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2562C>T	2.37:g.189917736G>A							p.D854D	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2836	-			854					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.2562C>T	CCDS33350.1																																																																																				0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		52	210	0	0	0	1	0	52	210					A	189917736	G	A	189917736	2	1	20	1	0	0	0	0	0	0	0	1	3706	1136	40	1		1	COL5A2	2	189917736	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	10187195	189917736	53281637	30	2425											
ABCA12	26154	broad.mit.edu	37	chr2	215865634	215865634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcttcttgtggtctgtgCggtcttgagactcatccgga	13	9	4	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:215865634C>T	ENST00000272895.7	-	22	3193	c.2974G>A	c.(2974-2976)Gca>Aca	p.A992T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	992					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGTCTGTGCGGTCTTGAGA	0.448																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2974-2976)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 12							141	148	146					2																	215865634		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865634C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2974G>A	2.37:g.215865634C>T	ENSP00000272895:p.Ala992Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	p.A992T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3193	-		Renal(323;0.127)	992					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2974G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	2.864	-0.235436	0.05983	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95788	-3.81;-3.81	5.73	0.518	0.17030	.	0.350884	0.28021	N	0.016901	D	0.85691	0.5755	N	0.08118	0	0.58432	D	0.999999	B;B	0.20261	0.043;0.011	B;B	0.19148	0.021;0.024	T	0.74390	-0.3681	10	0.02654	T	1	.	12.6441	0.56725	0.7354:0.2003:0.0:0.0643	.	992;674	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	992;674	ENSP00000272895:A992T;ENSP00000374312:A674T	ENSP00000272895:A992T	A	-	1	0	ABCA12	215573879	0.004000	0.15560	0.053000	0.19242	0.987000	0.75469	0.078000	0.14761	-0.199000	0.10317	0.555000	0.69702	GCA		0.448	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		6	448	0	0	0	1	0	6	448					T	215865634	C	T	215865634	3	4	20	1	0	0	0	0	1	0	0	0	30	768	27	1	4941	1	ABCA12	2	215865634	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	25947898	215865634	27333739	31	2426											
GLB1L	79411	broad.mit.edu	37	chr2	220101856	220101856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagctgaaagggaattgaTatgtgtcctgtgcaaagtac	11	6	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:220101856T>C	ENST00000295759.7	-	17	2216	c.1903A>G	c.(1903-1905)Atc>Gtc	p.I635V	GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V|GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	635					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAATTGATATGTGTCCTG	0.468																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1903-1905)Atc>Gtc		galactosidase, beta 1-like							163	148	153					2																	220101856		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220101856T>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1903A>G	2.37:g.220101856T>C	ENSP00000295759:p.Ile635Val					GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V	p.I635V			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2216	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	635					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1903A>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	4.871	0.161916	0.09287	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.96992	-4.2;-3.93;-4.2;-3.93	4.93	-9.86	0.00473	Galactose-binding domain-like (1);	3.089320	0.00575	N	0.000313	D	0.86112	0.5855	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81204	-0.1039	10	0.21540	T	0.41	0.3857	2.6931	0.05126	0.1812:0.3995:0.1959:0.2234	.	545;635	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	V	635;545;635;545	ENSP00000295759:I635V;ENSP00000386354:I545V;ENSP00000375939:I635V;ENSP00000348628:I545V	ENSP00000295759:I635V	I	-	1	0	GLB1L	219810100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.053000	0.03500	-2.213000	0.00735	-0.256000	0.11100	ATC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		99	398	0	0	0	1	0	99	398					C	220101856	T	C	220101856	3	2	20	1	0	0	0	0	1	0	0	0	6457	1406	49	4	65	4	GLB1L	2	220101856	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	4236222	220101856	23097517	32	2427											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	26	3	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30	40	37					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	138	0	0	0	1	0	8	138					G	227659846	T	G	227659846	2	3	20	1	0	0	0	0	0	0	0	1	7870	1683	59	4		4	IRS1	2	227659846	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	7557990	227659846	15539527	33	2428											
OXTR	5021	broad.mit.edu	37	chr3	8794835	8794835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtggaagaggtggcccGtgaacagcatgtagatccag	15	8	0	3	rs200966415		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:8794835G>A	ENST00000316793.3	-	4	1622	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	333					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GAGGTGGCCCGTGAACAGCAT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19866	0.0		0.0	False		,,,				2504	0.0					ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(997-999)aCg>aTg		oxytocin receptor	Carbetocin(DB01282)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	71	63	66		998	4.2	0.8	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXTR	NM_000916.3	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	333/390	8794835	2,13004	2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794835G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.998C>T	3.37:g.8794835G>A	ENSP00000324270:p.Thr333Met					CAV3_ENST00000472766.1_Intron	p.T333M	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1622	-			333					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.998C>T	CCDS2570.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.0	4.366953	0.82463	2.27E-4	1.16E-4	ENSG00000180914	ENST00000316793	T	0.38560	1.13	5.13	4.23	0.50019	.	0.052718	0.85682	D	0.000000	T	0.55449	0.1921	M	0.63428	1.95	0.41902	D	0.990422	D	0.71674	0.998	P	0.57204	0.815	T	0.62158	-0.6913	10	0.87932	D	0	-32.9382	14.1848	0.65598	0.0:0.1509:0.8491:0.0	.	333	P30559	OXYR_HUMAN	M	333	ENSP00000324270:T333M	ENSP00000324270:T333M	T	-	2	0	OXTR	8769835	1.000000	0.71417	0.845000	0.33349	0.985000	0.73830	5.333000	0.65917	1.330000	0.45394	0.655000	0.94253	ACG		0.617	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			61	150	0	0	0	1	0	61	150					A	8794835	G	A	8794835	3	1	20	1	0	0	0	0	1	0	0	0	11380	1145	40	1	175	1	OXTR	3	8794835	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8794835	189227595	34	2429											
TGFBR2	7048	broad.mit.edu	37	chr3	30713171	30713171	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttgttgctagtcatatttCaagtgacaggcatcagcctc	8	10	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:30713171C>T	ENST00000295754.5	+	4	878	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	166					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGTCATATTTCAAGTGACAGG	0.473																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(496-498)Caa>Taa		transforming growth factor, beta receptor II (70/80kDa)							112	98	103					3																	30713171		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713171C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.496C>T	3.37:g.30713171C>T	ENSP00000295754:p.Gln166*					TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	p.Q166*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	878	+			166					B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.496C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	38	6.940423	0.97952	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	4.86	3.91	0.45181	.	0.557577	0.20898	N	0.083695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.5905	0.56439	0.231:0.769:0.0:0.0	.	.	.	.	X	166;191;68;32	.	ENSP00000295754:Q166X	Q	+	1	0	TGFBR2	30688175	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.769000	0.47654	2.508000	0.84585	0.655000	0.94253	CAA		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			49	148	0	0	0	1	0	49	148					T	30713171	C	T	30713171	4	4	20	1	0	0	0	0	0	1	0	0	15874	827	29	2	589	2	TGFBR2	3	30713171	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	21918336	30713171	167309259	35	2430											
LRRC2	79442	broad.mit.edu	37	chr3	46563080	46563080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgttggcgatcccgttcaCtttccattatttcattgcca	6	11	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:46563080C>G	ENST00000395905.3	-	8	1390	c.998G>C	c.(997-999)aGt>aCt	p.S333T	LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	333										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATCCCGTTCACTTTCCATTAT	0.328																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(997-999)aGt>aCt		leucine rich repeat containing 2							114	112	113					3																	46563080		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46563080C>G	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.998G>C	3.37:g.46563080C>G	ENSP00000379241:p.Ser333Thr					LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	8	1390	-		Ovarian(412;0.0563)	333					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.998G>C	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554666	0.27739	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.17854	2.25;2.25	4.56	3.67	0.42095	.	0.161627	0.41097	N	0.000942	T	0.13457	0.0326	L	0.40543	1.245	0.32701	N	0.512847	B	0.06786	0.001	B	0.08055	0.003	T	0.13845	-1.0494	10	0.14656	T	0.56	.	12.2733	0.54719	0.0:0.8089:0.1911:0.0	.	333	Q9BYS8	LRRC2_HUMAN	T	333	ENSP00000379241:S333T;ENSP00000296144:S333T	ENSP00000296144:S333T	S	-	2	0	LRRC2	46538084	0.998000	0.40836	0.863000	0.33907	0.897000	0.52465	0.599000	0.24089	1.245000	0.43885	0.591000	0.81541	AGT		0.328	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	189	0	0	0	1	0	5	189					G	46563080	C	G	46563080	3	3	20	1	0	0	0	0	1	0	0	0	9014	565	20	5	125	5	LRRC2	3	46563080	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	15849909	46563080	151459350	36	2431											
DOCK3	1795	broad.mit.edu	37	chr3	51378785	51378785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaggagggactgtgccGgaagatcattcactacttca	13	9	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:51378785G>A	ENST00000266037.9	+	38	3907	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1295	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACTGTGCCGGAAGATCATT	0.532																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3883-3885)cGg>cAg		dedicator of cytokinesis 3							60	64	63					3																	51378785		2086	4222	6308	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51378785G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3884G>A	3.37:g.51378785G>A	ENSP00000266037:p.Arg1295Gln						p.R1295Q	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	38	3907	+			1295			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3884G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977405	0.53720	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04603	3.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.20766	0.605	0.58432	D	0.999999	D	0.67145	0.996	P	0.55087	0.768	T	0.47032	-0.9148	10	0.28530	T	0.3	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	1295	Q8IZD9	DOCK3_HUMAN	Q	1295;91	ENSP00000266037:R1295Q	ENSP00000266037:R1295Q	R	+	2	0	DOCK3	51353825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.574000	0.86865	0.655000	0.94253	CGG		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		5	116	0	0	0	1	0	5	116					A	51378785	G	A	51378785	3	1	20	1	0	0	0	0	1	0	0	0	4704	1116	39	1	4034	1	DOCK3	3	51378785	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	4815705	51378785	146643645	37	2432											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	388						7	388	---	---	---	---	-	53529195	GAT	-	53529193	7	5	20	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-2L-AAQJ-01A-12D-A397-08	2150408	53529193	144493237	38	2433											
CACNA1D	776	broad.mit.edu	37	chr3	53752385	53752385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaacgtcagcggtgaagGcgagaaccgaggctgctgtg	17	8	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53752385G>T	ENST00000350061.5	+	10	1959	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V|CACNA1D_ENST00000288139.4_Missense_Mutation_p.G483V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	483					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGTGAAGGCGAGAACCGA	0.592																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1447-1449)gGc>gTc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136	115	122					3																	53752385		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53752385G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1448G>T	3.37:g.53752385G>T	ENSP00000288133:p.Gly483Val					CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V|CACNA1D_ENST00000350061.5_Missense_Mutation_p.G483V	p.G483V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1566	+			483					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1448G>T	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.235118|1.235118	0.22626|0.22626	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	.|153.860000	.|0.00166	.|N	.|0.000000	D|D	0.89853|0.89853	0.6835|0.6835	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25486	.|0.01;0.001;0.002;0.127	.|B;B;B;B	.|0.28305	.|0.01;0.002;0.008;0.088	T|T	0.69544|0.69544	-0.5117|-0.5117	5|10	.|0.39692	.|T	.|0.17	.|.	10.5212|10.5212	0.44920|0.44920	0.0:0.1448:0.7048:0.1504|0.0:0.1448:0.7048:0.1504	.|.	.|483;156;483;483	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	S|V	197|483;483;483;156	.|ENSP00000288133:G483V;ENSP00000288139:G483V;ENSP00000409174:G483V;ENSP00000418014:G156V	.|ENSP00000288139:G483V	A|G	+|+	1|2	0|0	CACNA1D|CACNA1D	53727425|53727425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.433000|0.433000	0.31745|0.31745	3.391000|3.391000	0.52530|0.52530	1.292000|1.292000	0.44672|0.44672	-0.150000|-0.150000	0.13652|0.13652	GCG|GGC		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		76	236	1	0	1.48481e-22	1	1.59456e-22	76	236					T	53752385	G	T	53752385	3	4	20	1	0	0	0	0	1	0	0	0	2548	1203	42	3	1594	3	CACNA1D	3	53752385	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	223192	53752385	144270045	39	2434											
CADM2	253559	broad.mit.edu	37	chr3	86010650	86010650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtggacaaaggatggcGgagaattaccagatcctgac	12	7	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:86010650G>A	ENST00000407528.2	+	7	858	c.796G>A	c.(796-798)Gga>Aga	p.G266R	CADM2_ENST00000383699.3_Missense_Mutation_p.G275R|CADM2_ENST00000405615.2_Missense_Mutation_p.G268R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	266	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAGGATGGCGGAGAATTACC	0.378																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(823-825)Gga>Aga		cell adhesion molecule 2							145	142	143					3																	86010650		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010650G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.796G>A	3.37:g.86010650G>A	ENSP00000384575:p.Gly266Arg					CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000407528.2_Missense_Mutation_p.G266R	p.G275R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1450	+		Lung NSC(201;0.0148)	266			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.823G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704519	0.88924	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.153416	0.64402	D	0.000017	T	0.70482	0.3229	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.72982	0.979;0.845;0.967	T	0.65619	-0.6124	10	0.25751	T	0.34	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	268;275;266	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	275;266;268	ENSP00000373200:G275R;ENSP00000384575:G266R;ENSP00000384193:G268R	ENSP00000373200:G275R	G	+	1	0	CADM2	86093340	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	7.558000	0.82253	2.629000	0.89072	0.650000	0.86243	GGA		0.378	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		5	402	0	0	0	1	0	5	402					A	86010650	G	A	86010650	3	1	20	1	0	0	0	0	1	0	0	0	2574	1117	39	1	893	1	CADM2	3	86010650	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	32258265	86010650	112011780	40	2435											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	407						8	407	---	---	---	---	-	113380090	T	-	113380090	7	5	20	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-2L-AAQJ-01A-12D-A397-08	27369440	113380090	84642340	41	2436											
ADCY5	111	broad.mit.edu	37	chr3	123021980	123021980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagttgacggccgactcCgccacgtgacacgcgttgac	12	14	0	3	rs148384901		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:123021980C>T	ENST00000462833.1	-	14	3858	c.2646G>A	c.(2644-2646)gcG>gcA	p.A882A	ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	882					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCCGACTCCGCCACGTGAC	0.652																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2644-2646)gcG>gcA		adenylate cyclase 5		C	,	1,4405	2.1+/-5.4	0,1,2202	59	53	55		1596,2646	1.1	1	3	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	532/912,882/1262	123021980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021980C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2646G>A	3.37:g.123021980C>T						ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	p.A882A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	3858	-			882					B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2646G>A	CCDS3022.1																																																																																				0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		43	167	0	0	0	1	0	43	167					T	123021980	C	T	123021980	2	4	20	1	0	0	0	0	0	0	0	1	297	639	23	1		1	ADCY5	3	123021980	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	9641890	123021980	75000450	42	2437											
LDB2	9079	broad.mit.edu	37	chr4	16504411	16504411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggccgcatcatattgcGtgttttctaatctagtgatt	9	8	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:16504411G>A	ENST00000304523.5	-	8	1300	c.977C>T	c.(976-978)aCg>aTg	p.T326M	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	326	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCATATTGCGTGTTTTCTAA	0.537																																						ENST00000304523.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(976-978)aCg>aTg		LIM domain binding 2							238	209	219					4																	16504411		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504411G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.977C>T	4.37:g.16504411G>A	ENSP00000306772:p.Thr326Met					LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M	p.T326M	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN			8	1300	-			326			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.977C>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030178|3.030178	0.54790|0.54790	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.26810	.|1.71;1.71	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.50531|0.50531	0.1621|0.1621	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;P;D	.|0.75020	.|0.985;0.899;0.891;0.949	T|T	0.43491|0.43491	-0.9388|-0.9388	5|10	.|0.45353	.|T	.|0.12	-13.6093|-13.6093	18.3199|18.3199	0.90234|0.90234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;324;326;300	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	C|M	247|324;326	.|ENSP00000422552:T324M;ENSP00000306772:T326M	.|ENSP00000306772:T326M	R|T	-|-	1|2	0|0	LDB2|LDB2	16113509|16113509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.537	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			125	508	0	0	0	1	0	125	508					A	16504411	G	A	16504411	3	1	20	1	0	0	0	0	1	0	0	0	8727	1145	40	1	148	1	LDB2	4	16504411	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		16504411	174649865	43	2438											
COX7B2	170712	broad.mit.edu	37	chr4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctatgtcttgccatgctttGcagaatgctttgaatcttga	9	8	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423																																						ENST00000396533.1																			0				large_intestine(1)|lung(4)	5						c.(58-60)Caa>Gaa		cytochrome c oxidase subunit VIIb2							158	137	144					4																	46737152		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737152G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"Mitochondrial respiratory chain complex / Complex IV"	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.58C>G	4.37:g.46737152G>C	ENSP00000379784:p.Gln20Glu					COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E	p.Q20E			Q8TF08	CX7B2_HUMAN			4	308	-			20					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.58C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	5.784	0.329026	0.10956	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.22	1.33	0.21861	.	0.393840	0.25771	N	0.028415	T	0.29256	0.0728	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.24368	-1.0162	9	0.72032	D	0.01	-8.2035	6.926	0.24416	0.0:0.3509:0.4531:0.1959	.	20	Q8TF08	CX7B2_HUMAN	E	20;20;20;19;20	ENSP00000347799:Q20E;ENSP00000379784:Q20E;ENSP00000305964:Q20E;ENSP00000437439:Q19E;ENSP00000423519:Q20E	ENSP00000305964:Q20E	Q	-	1	0	COX7B2	46431909	0.003000	0.15002	0.019000	0.16419	0.193000	0.23685	1.002000	0.29796	0.255000	0.21593	0.585000	0.79938	CAA		0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		5	397	0	0	0	1	0	5	397					C	46737152	G	C	46737152	3	2	20	1	0	0	0	0	1	0	0	0	3792	1328	46	5	191	5	COX7B2	4	46737152	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	30232741	46737152	144417124	44	2439											
CEP135	9662	broad.mit.edu	37	chr4	56877620	56877620	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagtgcaagaaaaagaaGaaatgaagagcagagttcat	11	5	1	6			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:56877620G>T	ENST00000257287.4	+	20	2672	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	850					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAAGAAGAAATGAAGAG	0.333																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2548-2550)Gaa>Taa		centrosomal protein 135kDa							91	93	93					4																	56877620		2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56877620G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2548G>T	4.37:g.56877620G>T	ENSP00000257287:p.Glu850*						p.E850*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			20	2672	+	Glioma(25;0.08)|all_neural(26;0.101)		850					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2548G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	41	8.869519	0.98984	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.11	5.11	0.69529	.	0.046328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	.	.	.	X	850	.	ENSP00000257287:E850X	E	+	1	0	CEP135	56572377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.811000	0.86092	2.373000	0.80994	0.591000	0.81541	GAA		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		38	177	1	0	3.7052e-28	1	4.01397e-28	38	177					T	56877620	G	T	56877620	4	4	20	1	0	0	0	0	0	1	0	0	3256	943	33	3	2622	3	CEP135	4	56877620	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	10140468	56877620	134276656	45	2440											
NAA11	84779	broad.mit.edu	37	chr4	80246531	80246531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaggaccacatacccGcccttcttcaggtccatttg	8	16	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:80246531G>A	ENST00000286794.4	-	1	673	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	167					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCACATACCCGCCCTTCTTCA	0.532																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(499-501)ggC>ggT		N(alpha)-acetyltransferase 11, NatA catalytic subunit							56	57	57					4																	80246531		1986	4167	6153	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246531G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.501C>T	4.37:g.80246531G>A						NAA11_ENST00000513733.1_5'UTR	p.G167G	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	673	-			167					Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.501C>T	CCDS47084.1																																																																																				0.532	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			42	127	0	0	0	1	0	42	127					A	80246531	G	A	80246531	2	1	20	1	0	0	0	0	0	0	0	1	10158	1074	38	1		1	NAA11	4	80246531	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23368911	80246531	110907745	46	2441											
SEC31A	22872	broad.mit.edu	37	chr4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T													ttcagtctgagaagcatcaaINStttttttttggcaataattg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:83785564_83785565insT	ENST00000395310.2	-	11	1566_1567	c.1384_1385insA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.I457fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.I234fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)tgafs		SEC31 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785564_83785565insT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1385dupA	4.37:g.83785573_83785573dupT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs	p.*462fs			O94979	SC31A_HUMAN			11	1547_1548	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	ENST00000395310.2	37	c.1384_1385insA	CCDS3596.1																																																																																				0.356	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	339						7	339	---	---	---	---	T	83785565	-	T	83785564	7	5	20	1	0	1	1	0	0	0	0	0	14048	101	4	0	2345	0	SEC31A	4	83785564	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	3539033	83785564	107368712	47	2442											
PDHA2	5161	broad.mit.edu	37	chr4	96762066	96762066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctaaaggtcgatggaatGgatgttctgtgtgttcgtga	16	4	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:96762066G>T	ENST00000295266.4	+	1	828	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	255					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TCGATGGAATGGATGTTCTGT	0.463																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(763-765)atG>atT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						149	149	149					4																	96762066		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762066G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.765G>T	4.37:g.96762066G>T	ENSP00000295266:p.Met255Ile						p.M255I	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	828	+		Hepatocellular(203;0.114)	255					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.765G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365331	0.61513	.	.	ENSG00000163114	ENST00000295266	D	0.97209	-4.29	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99282	1.0896	10	0.87932	D	0	-26.8691	16.0034	0.80327	0.0:0.0:1.0:0.0	.	255	P29803	ODPAT_HUMAN	I	255	ENSP00000295266:M255I	ENSP00000295266:M255I	M	+	3	0	PDHA2	96981089	1.000000	0.71417	0.992000	0.48379	0.523000	0.34469	4.138000	0.58017	2.733000	0.93635	0.467000	0.42956	ATG		0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			48	171	1	0	6.68952e-21	1	7.15286e-21	48	171					T	96762066	G	T	96762066	3	4	20	1	0	0	0	0	1	0	0	0	11707	1348	47	3	767	3	PDHA2	4	96762066	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	12976502	96762066	94392210	48	2443											
MYOZ2	51778	broad.mit.edu	37	chr4	120079300	120079300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaatccagacaacattGctccaggtaaccaatcccct	4	16	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:120079300G>T	ENST00000307128.5	+	4	583	c.370G>T	c.(370-372)Gct>Tct	p.A124S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGACAACATTGCTCCAGGTAA	0.438																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(370-372)Gct>Tct		myozenin 2							120	114	116					4																	120079300		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079300G>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.370G>T	4.37:g.120079300G>T	ENSP00000306997:p.Ala124Ser						p.A124S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	583	+			124						Missense_Mutation	SNP	ENST00000307128.5	37	c.370G>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066197	0.93898	.	.	ENSG00000172399	ENST00000307128	T	0.66815	-0.23	5.55	5.55	0.83447	.	0.050518	0.85682	D	0.000000	T	0.81650	0.4867	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82497	-0.0428	10	0.66056	D	0.02	-16.6068	19.4973	0.95079	0.0:0.0:1.0:0.0	.	124	Q9NPC6	MYOZ2_HUMAN	S	124	ENSP00000306997:A124S	ENSP00000306997:A124S	A	+	1	0	MYOZ2	120298748	1.000000	0.71417	0.994000	0.49952	0.862000	0.49288	8.580000	0.90784	2.608000	0.88229	0.655000	0.94253	GCT		0.438	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			5	346	1	0	0.000602214	1	0.000617207	5	346					T	120079300	G	T	120079300	3	4	20	1	0	0	0	0	1	0	0	0	10137	1319	46	3	380	3	MYOZ2	4	120079300	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23317234	120079300	71074976	49	2444											
MAML3	55534	broad.mit.edu	37	chr4	140811087	140811087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgctgctg	14	13	0	0	rs544518608|rs58287721	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:140811087C>T	ENST00000509479.2	-	2	2359	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q345Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.532																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1501-1503)caG>caA		mastermind-like 3 (Drosophila)							18	26	24					4																	140811087		2144	4285	6429	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811087C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1503G>A	4.37:g.140811087C>T						MAML3_ENST00000327122.5_Silent_p.Q345Q|MAML3_ENST00000398940.1_Intron	p.Q501Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2359	-	all_hematologic(180;0.162)		501			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1503G>A	CCDS54805.1																																																																																				0.532	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			27	144	0	0	0	1	0	27	144					T	140811087	C	T	140811087	2	4	20	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811087	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	20731787	140811087	50343189	50	2445											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		7	45	0	0	0	1	0	7	45					G	164050124	T	G	164050124	2	3	20	1	0	0	0	0	0	0	0	1	10181	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	23239037	164050124	27104152	51	2446											
CCDC111	201973	broad.mit.edu	37	chr4	185599474	185599475	+	Frame_Shift_Ins	INS	-	-	T													aggttactgaagataacaaaINSttttttcctatacagtcaaa							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:185599474_185599475insT	ENST00000314970.6	+	8	1366_1367	c.933_934insT	c.(934-936)tttfs	p.F312fs	PRIMPOL_ENST00000512834.1_Frame_Shift_Ins_p.F312fs|PRIMPOL_ENST00000515774.1_Frame_Shift_Ins_p.F183fs|PRIMPOL_ENST00000503752.1_Frame_Shift_Ins_p.F312fs	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	312					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AAGATAACAAATTTTTTCCTAT	0.327																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(931-936)aattttfs																																						SO:0001589	frameshift_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185599474_185599475insT	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.939dupT	4.37:g.185599480_185599480dupT	ENSP00000313816:p.Phe312fs					CCDC111_ENST00000515774.1_Frame_Shift_Ins_p.NF182fs|CCDC111_ENST00000512834.1_Frame_Shift_Ins_p.NF311fs|CCDC111_ENST00000503752.1_Frame_Shift_Ins_p.NF311fs	p.NF311fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	8	1366_1367	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	311					D3DP55|D6RDM1|Q5HYJ9	Frame_Shift_Ins	INS	ENST00000314970.6	37	c.933_934insT	CCDS3837.1																																																																																				0.327	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		20	171						20	171	---	---	---	---	T	185599475	-	T	185599474	7	5	20	1	0	1	1	0	0	0	0	0	2755	98	4	0	955	0	CCDC111	4	185599474	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	21549350	185599474	5554802	52	2447											
SORBS2	8470	broad.mit.edu	37	chr4	186544639	186544639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtggtggtggtggtgAtggtggtggtggtggctgga	25	2	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:186544639A>G	ENST00000284776.7	-	13	2441	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000431808.1_Silent_p.H644H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtgatggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1930-1932)caT>caC		sorbin and SH3 domain containing 2							54	54	54					4																	186544639		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544639A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1932T>C	4.37:g.186544639A>G						SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	p.H644H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2495	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	644			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1932T>C	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	225	0	0	0	1	0	5	225					G	186544639	A	G	186544639	2	3	20	1	0	0	0	0	0	0	0	1	14978	330	12	4		4	SORBS2	4	186544639	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	945165	186544639	4609637	53	2448											
PCDHA3	56145	broad.mit.edu	37	chr5	140182409	140182409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgcgatgcgggcgtgCcgcctctgggcagcaacgtg	18	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:140182409C>T	ENST00000522353.2	+	1	1627	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGGG	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1627-1629)Ccg>Tcg									85	86	86					5																	140182409		2203	4298	6501	SO:0001583	missense	0							g.chr5:140182409C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1627C>T	5.37:g.140182409C>T	ENSP00000429808:p.Pro543Ser					PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P543S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1627	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1627C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	14.59	2.581320	0.46006	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56776	0.44;0.44	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.41605	U	0.000845	T	0.75744	0.3891	M	0.88031	2.925	0.41141	D	0.985959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.81315	-0.0988	10	0.87932	D	0	.	13.7316	0.62792	0.0:0.8455:0.1545:0.0	.	543;543	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	543	ENSP00000429808:P543S;ENSP00000434086:P543S	ENSP00000429808:P543S	P	+	1	0	PCDHA3	140162593	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	7.386000	0.79775	2.340000	0.79590	0.306000	0.20318	CCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	607	0	0	0	1	0	6	607					T	140182409	C	T	140182409	3	4	20	1	0	0	0	0	1	0	0	0	11567	739	26	2	1629	2	PCDHA3	5	140182409	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		140182409	40732851	54	2449											
TCERG1	10915	broad.mit.edu	37	chr5	145886749	145886749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagagagcactttaggcaActtctggatgaaacttctgc	10	8	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:145886749A>G	ENST00000296702.5	+	19	2927	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	TCERG1_ENST00000394421.2_Silent_p.Q942Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	963	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTAGGCAACTTCTGGATG	0.338																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2887-2889)caA>caG		transcription elongation regulator 1							78	83	81					5																	145886749		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886749A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2889A>G	5.37:g.145886749A>G						TCERG1_ENST00000394421.2_Silent_p.Q942Q	p.Q963Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2927	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	963			FF 5.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.2889A>G	CCDS4282.1																																																																																				0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		72	264	0	0	0	1	0	72	264					G	145886749	A	G	145886749	2	3	20	1	0	0	0	0	0	0	0	1	15737	40	2	4		4	TCERG1	5	145886749	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	5704340	145886749	35028511	55	2450											
STK32A	202374	broad.mit.edu	37	chr5	146750320	146750320	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggtcacaggaaatggtgtCacttcttaaaaaggtaagaa	10	6	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:146750320C>A	ENST00000397936.3	+	9	1097	c.764C>A	c.(763-765)tCa>tAa	p.S255*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGGTGTCACTTCTTAAA	0.418																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(763-765)tCa>tAa		serine/threonine kinase 32A							152	131	138					5																	146750320		1568	3582	5150	SO:0001587	stop_gained	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750320C>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.764C>A	5.37:g.146750320C>A	ENSP00000381030:p.Ser255*					STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1097	+			255			Protein kinase.		B3KSY0	Nonsense_Mutation	SNP	ENST00000397936.3	37	c.764C>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	38	6.721010	0.97788	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	.	.	.	5.52	5.52	0.82312	.	0.191964	0.25885	N	0.027664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	.	.	.	X	255	.	ENSP00000381030:S255X	S	+	2	0	STK32A	146730513	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	4.191000	0.58372	2.761000	0.94854	0.655000	0.94253	TCA		0.418	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		70	308	1	0	1.74474e-33	1	1.89847e-33	70	308					A	146750320	C	A	146750320	4	1	20	1	0	0	0	0	0	1	0	0	15349	838	29	3	827	3	STK32A	5	146750320	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	863571	146750320	34164940	56	2451											
GM2A	2760	broad.mit.edu	37	chr5	150639359	150639359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggataactgtgatgaagGgaaggaccctgcggtgatca	15	7	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:150639359G>C	ENST00000357164.3	+	2	450	c.125G>C	c.(124-126)gGg>gCg	p.G42A		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	42					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGATGAAGGGAAGGACCCT	0.527																																						ENST00000357164.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(124-126)gGg>gCg		GM2 ganglioside activator							70	62	65					5																	150639359		2203	4300	6503	SO:0001583	missense	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150639359G>C		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.125G>C	5.37:g.150639359G>C	ENSP00000349687:p.Gly42Ala						p.G42A	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	450	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	42					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	ENST00000357164.3	37	c.125G>C	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	G	2.987	-0.209025	0.06140	.	.	ENSG00000196743	ENST00000523466;ENST00000357164	T;T	0.71579	-0.58;-0.58	4.96	2.14	0.27477	MD-2-related lipid-recognition (1);	0.306608	0.35772	N	0.002992	T	0.57417	0.2052	L	0.47716	1.5	0.09310	N	1	P;P	0.46142	0.797;0.873	B;B	0.39027	0.117;0.288	T	0.48570	-0.9024	10	0.29301	T	0.29	-7.8707	8.4518	0.32875	0.0857:0.4541:0.4602:0.0	.	42;42	B4DQM5;P17900	.;SAP3_HUMAN	A	57;42	ENSP00000429100:G57A;ENSP00000349687:G42A	ENSP00000349687:G42A	G	+	2	0	GM2A	150619552	0.006000	0.16342	0.021000	0.16686	0.165000	0.22458	0.193000	0.17116	0.140000	0.18849	-0.136000	0.14681	GGG		0.527	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		4	176	0	0	0	1	0	4	176					C	150639359	G	C	150639359	3	2	20	1	0	0	0	0	1	0	0	0	6513	1232	43	5	131	5	GM2A	5	150639359	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3889039	150639359	30275901	57	2452											
FAM71B	153745	broad.mit.edu	37	chr5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagagactggcggcccccGccatcgaggtggaagtacct	16	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus (GO:0005634)				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)			GGCGGCCCCCGCCATCGAGGT	0.567																																						ENST00000302938.4																			0				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						c.(1081-1083)gCg>gTg		family with sequence similarity 71, member B							33	36	35					5																	156590194		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590194G>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.1082C>T	5.37:g.156590194G>A	ENSP00000305596:p.Ala361Val						p.A361V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1177	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	361					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1082C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798141	0.16397	.	.	ENSG00000170613	ENST00000302938	T	0.04156	3.69	3.83	-0.0601	0.13790	.	2.284610	0.01796	N	0.032639	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.14023	0.01	T	0.32929	-0.9888	10	0.02654	T	1	0.1287	1.1705	0.01824	0.2063:0.1729:0.4431:0.1777	.	361	Q8TC56	FA71B_HUMAN	V	361	ENSP00000305596:A361V	ENSP00000305596:A361V	A	-	2	0	FAM71B	156522772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.036000	0.13669	-0.224000	0.12420	GCG		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		49	199	0	0	0	1	0	49	199					A	156590194	G	A	156590194	3	1	20	1	0	0	0	0	1	0	0	0	5633	1087	38	1	739	1	FAM71B	5	156590194	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5950835	156590194	24325066	58	2453											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	419						8	419	---	---	---	---	A	162917426	-	A	162917425	7	5	20	1	0	1	1	0	0	0	0	0	7272	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	6327231	162917425	17997835	59	2454											
ODZ2	57451	broad.mit.edu	37	chr5	167489122	167489122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagaagttggtcggcGggtaacacaagaagtcccac	13	9	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:167489122G>A	ENST00000518659.1	+	7	1406	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	TENM2_ENST00000519204.1_Missense_Mutation_p.R335Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	456					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTTGGTCGGCGGGTAACACAA	0.468																																						ENST00000519204.1																			0											c.(1003-1005)cGg>cAg		teneurin transmembrane protein 2							83	86	86					5																	167489122		1854	4100	5954	SO:0001583	missense	57451							g.chr5:167489122G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1367G>A	5.37:g.167489122G>A	ENSP00000429430:p.Arg456Gln					TENM2_ENST00000518659.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q	p.R335Q							6	1122	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1004G>A		.	.	.	.	.	.	.	.	.	.	G	12.00	1.805851	0.31961	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	4.76	0.60689	.	0.188735	0.42420	D	0.000705	T	0.15392	0.0371	L	0.38175	1.15	0.18873	N	0.999983	B;B;B	0.28971	0.021;0.229;0.044	B;B;B	0.21546	0.005;0.035;0.022	T	0.17077	-1.0381	10	0.16420	T	0.52	.	12.5128	0.56015	0.1385:0.0:0.8615:0.0	.	456;224;335	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	456;456;335;224;289	ENSP00000429430:R456Q;ENSP00000438635:R456Q;ENSP00000428964:R335Q;ENSP00000427874:R224Q;ENSP00000384905:R289Q	ENSP00000384905:R289Q	R	+	2	0	ODZ2	167421700	1.000000	0.71417	0.338000	0.25549	0.975000	0.68041	6.654000	0.74387	1.378000	0.46305	0.655000	0.94253	CGG		0.468	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		37	123	0	0	0	1	0	37	123					A	167489122	G	A	167489122	3	1	20	1	0	0	0	0	1	0	0	0	10877	1116	39	1	1393	1	ODZ2	5	167489122	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	4571697	167489122	13426138	60	2455											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		8	391						8	391	---	---	---	---	-	176301304	CAC	-	176301302	7	5	20	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-2L-AAQJ-01A-12D-A397-08	8812180	176301302	4613958	61	2456											
PGC	5225	broad.mit.edu	37	chr6	41704646	41704646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcgtagacggaatagtAggacctgaggaagacatccc	12	9	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:41704646A>G	ENST00000373025.3	-	9	1173	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H	TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000403298.4_5'Flank|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000230323.4_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	371					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACGGAATAGTAGGACCTGAGG	0.602																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(1111-1113)Tac>Cac		progastricsin (pepsinogen C)							117	98	105					6																	41704646		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704646A>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1111T>C	6.37:g.41704646A>G	ENSP00000362116:p.Tyr371His						p.Y371H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1173	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		371					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.1111T>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663054	0.47572	.	.	ENSG00000096088	ENST00000373025	T	0.34275	1.37	4.82	4.82	0.62117	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000001	T	0.64136	0.2571	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76091	-0.3086	10	0.87932	D	0	.	14.2156	0.65790	1.0:0.0:0.0:0.0	.	371	P20142	PEPC_HUMAN	H	371	ENSP00000362116:Y371H	ENSP00000362116:Y371H	Y	-	1	0	PGC	41812624	1.000000	0.71417	0.967000	0.41034	0.048000	0.14542	6.504000	0.73704	2.013000	0.59113	0.459000	0.35465	TAC		0.602	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			10	198	0	0	0	1	0	10	198					G	41704646	A	G	41704646	3	3	20	1	0	0	0	0	1	0	0	0	11827	420	15	4	59	4	PGC	6	41704646	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08		41704646	129410421	62	2457											
TPD52L1	7164	broad.mit.edu	37	chr6	125541274	125541274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaagatgcagtagccAgtgctgacttctctagcatg	11	10	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:125541274A>T	ENST00000534000.1	+	2	366	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000532429.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	24					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCAGTAGCCAGTGCTGACTT	0.378																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(70-72)Agt>Tgt		tumor protein D52-like 1							140	136	138					6																	125541274		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541274A>T	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.70A>T	6.37:g.125541274A>T	ENSP00000434142:p.Ser24Cys					TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000532429.1_5'UTR	p.S24C	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	2	366	+			24					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.70A>T	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258538	0.59321	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000392484	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.26	-0.253	0.12996	.	0.282976	0.43919	D	0.000514	T	0.12263	0.0298	L	0.38175	1.15	0.38267	D	0.942041	P;P;P	0.51537	0.844;0.844;0.946	B;B;P	0.50590	0.416;0.416;0.645	T	0.06058	-1.0848	10	0.56958	D	0.05	-0.967	5.6478	0.17598	0.4559:0.1515:0.3926:0.0	.	24;24;24	Q16890-3;Q16890-2;Q16890	.;.;TPD53_HUMAN	C	24	ENSP00000306285:S24C;ENSP00000434142:S24C;ENSP00000357387:S24C;ENSP00000357373:S24C;ENSP00000436953:S24C;ENSP00000434743:S24C	ENSP00000306285:S24C	S	+	1	0	TPD52L1	125582973	0.999000	0.42202	0.993000	0.49108	0.840000	0.47671	1.953000	0.40352	0.087000	0.17167	-0.250000	0.11733	AGT		0.378	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			4	288	0	0	0	1	0	4	288					T	125541274	A	T	125541274	3	4	20	1	0	0	0	0	1	0	0	0	16451	188	7	5	76	5	TPD52L1	6	125541274	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	83836628	125541274	45573793	63	2458											
KIAA0408	9729	broad.mit.edu	37	chr6	127771349	127771349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaccatctttgtgattcGtccttataaattcactttgt	5	9	3	2	rs551811170	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:127771349G>A	ENST00000483725.3	-	3	620	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95								p.T95M(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTGTGATTCGTCCTTATAAA	0.358													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0					ENST00000483725.3																			1	Substitution - Missense(1)	p.T95M(1)	pancreas(1)	endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(283-285)aCg>aTg		KIAA0408							125	126	125					6																	127771349		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127771349G>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.284C>T	6.37:g.127771349G>A	ENSP00000435150:p.Thr95Met					SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.T95M	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	620	-			95					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.284C>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966787	0.02232	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.43294	0.95;0.95	5.7	3.22	0.36961	.	0.603786	0.12642	N	0.451213	T	0.04952	0.0133	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.30078	T	0.28	0.4989	7.4927	0.27471	0.766:0.0:0.234:0.0	.	95	Q6ZU52	K0408_HUMAN	M	95;107	ENSP00000435150:T95M;ENSP00000434384:T107M	ENSP00000435150:T95M	T	-	2	0	KIAA0408	127813042	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	0.957000	0.29215	0.978000	0.38470	-0.300000	0.09419	ACG		0.358	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		6	430	0	0	0	1	0	6	430					A	127771349	G	A	127771349	3	1	20	1	0	0	0	0	1	0	0	0	8204	1145	40	1	1816	1	KIAA0408	6	127771349	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2230075	127771349	43343718	64	2459											
TAAR8	83551	broad.mit.edu	37	chr6	132874742	132874742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcttattataactcagCcatgaatcctttgatttatg	7	7	1	2	rs371469740		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:132874742C>A	ENST00000275200.1	+	1	911	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATAACTCAGCCATGAATCCT	0.343																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(910-912)gCc>gAc		trace amine associated receptor 8		C	ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	139	144	142		911	2.8	0.7	6		142	0,8600		0,0,4300	no	missense	TAAR8	NM_053278.1	126	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	304/343	132874742	1,13005	2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874742C>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.911C>A	6.37:g.132874742C>A	ENSP00000275200:p.Ala304Asp						p.A304D	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	911	+	Breast(56;0.112)		304					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.911C>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760856	0.15914	2.27E-4	0.0	ENSG00000146385	ENST00000275200	T	0.41065	1.01	4.57	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.097252	0.40908	D	0.000986	T	0.69378	0.3104	H	0.98426	4.23	0.09310	N	1	D	0.56521	0.976	D	0.69654	0.965	T	0.71958	-0.4435	10	0.87932	D	0	-12.6953	15.9979	0.80265	0.0:0.926:0.0:0.074	.	304	Q969N4	TAAR8_HUMAN	D	304	ENSP00000275200:A304D	ENSP00000275200:A304D	A	+	2	0	TAAR8	132916435	0.000000	0.05858	0.667000	0.29798	0.012000	0.07955	0.205000	0.17356	0.638000	0.30545	-1.347000	0.01240	GCC		0.343	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		6	630	1	0	0.00198382	1	0.00201647	6	630					A	132874742	C	A	132874742	3	1	20	1	0	0	0	0	1	0	0	0	15545	739	26	3	913	3	TAAR8	6	132874742	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	5103393	132874742	38240325	65	2460											
SDK1	221935	broad.mit.edu	37	chr7	4188979	4188979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgggtcccgggcagCgacggggcctcccccatccg	14	18	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:4188979C>T	ENST00000404826.2	+	30	4648	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S	SDK1_ENST00000389531.3_Silent_p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4507-4509)agC>agT		sidekick cell adhesion molecule 1							27	28	27					7																	4188979		2202	4299	6501	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4188979C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4509C>T	7.37:g.4188979C>T						SDK1_ENST00000389531.3_Silent_p.S1503S	p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4648	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1503			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4509C>T	CCDS34590.1																																																																																				0.677	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	50	0	0	0	1	0	10	50					T	4188979	C	T	4188979	2	4	20	1	0	0	0	0	0	0	0	1	14018	767	27	1		1	SDK1	7	4188979	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		4188979	154949684	66	2461											
WIPI2	26100	broad.mit.edu	37	chr7	5232787	5232787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcagctggtcttggccGtcgcgctgttgtctggttag	15	9	2	1	rs200762936		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5232787G>A	ENST00000288828.4	+	2	345	c.113G>A	c.(112-114)cGt>cAt	p.R38H	WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000382384.2_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	38					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGTCTTGGCCGTCGCGCTGTT	0.388																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(112-114)cGt>cAt		WD repeat domain, phosphoinositide interacting 2							136	136	136					7																	5232787		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5232787G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.113G>A	7.37:g.5232787G>A	ENSP00000288828:p.Arg38His					WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H	p.R38H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	2	345	+		Ovarian(82;0.0175)	38					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.113G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717084	0.15372	.	.	ENSG00000157954	ENST00000288828;ENST00000404704	T;T	0.35973	1.28;1.28	3.42	-6.11	0.02131	.	608.758000	0.01314	U	0.010739	T	0.15782	0.0380	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18967	-1.0320	10	0.40728	T	0.16	.	6.7201	0.23325	0.3457:0.1644:0.4899:0.0	.	38;38	Q9Y4P8-6;Q9Y4P8	.;WIPI2_HUMAN	H	38	ENSP00000288828:R38H;ENSP00000385297:R38H	ENSP00000288828:R38H	R	+	2	0	WIPI2	5199313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.087000	0.01360	-1.161000	0.02800	-1.223000	0.01593	CGT		0.388	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		97	376	0	0	0	1	0	97	376					A	5232787	G	A	5232787	3	1	20	1	0	0	0	0	1	0	0	0	17425	1145	40	1	119	1	WIPI2	7	5232787	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1043808	5232787	153905876	67	2462											
FSCN1	6624	broad.mit.edu	37	chr7	5644983	5644983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctgtggacttcttcttcGagttctgcgactataacaag	8	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5644983G>A	ENST00000382361.3	+	5	1474	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	454					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTTCTTCTTCGAGTTCTGCGA	0.617																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1360-1362)Gag>Aag		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							63	58	60					7																	5644983		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5644983G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1360G>A	7.37:g.5644983G>A	ENSP00000371798:p.Glu454Lys					FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	p.E454K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1474	+		Ovarian(82;0.0694)	454					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1360G>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060521	0.93846	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.52057	0.68;0.68	4.0	4.0	0.46444	Fascin domain (1);Actin cross-linking (1);	0.062034	0.64402	D	0.000007	T	0.45377	0.1339	M	0.62209	1.925	0.80722	D	1	P	0.50443	0.935	B	0.39068	0.289	T	0.59069	-0.7523	10	0.87932	D	0	-0.2446	15.5031	0.75716	0.0:0.0:1.0:0.0	.	454	Q16658	FSCN1_HUMAN	K	433;454;176	ENSP00000339729:E433K;ENSP00000371798:E454K	ENSP00000339729:E433K	E	+	1	0	FSCN1	5611509	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	9.420000	0.97426	1.944000	0.56390	0.549000	0.68633	GAG		0.617	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		45	157	0	0	0	1	0	45	157					A	5644983	G	A	5644983	3	1	20	1	0	0	0	0	1	0	0	0	6094	1059	37	1	1378	1	FSCN1	7	5644983	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	412196	5644983	153493680	68	2463											
CDK13	8621	broad.mit.edu	37	chr7	40027359	40027359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgaacaagaataaaaAagcacgagcagcagaggcag	11	6	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:40027359A>C	ENST00000181839.4	+	2	1978	c.1373A>C	c.(1372-1374)aAa>aCa	p.K458T	CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	458					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGAATAAAAAagcacgagca	0.488																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1372-1374)aAa>aCa		cyclin-dependent kinase 13							44	44	44					7																	40027359		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027359A>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1373A>C	7.37:g.40027359A>C	ENSP00000181839:p.Lys458Thr					CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			2	1978	+			458					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1373A>C	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358737	0.61403	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.66638	-0.22;-0.22	5.95	5.95	0.96441	.	.	.	.	.	T	0.79924	0.4530	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79212	-0.1896	8	.	.	.	-13.8654	16.4101	0.83708	1.0:0.0:0.0:0.0	.	458;458	Q14004-2;Q14004	.;CDK13_HUMAN	T	458	ENSP00000181839:K458T;ENSP00000340557:K458T	.	K	+	2	0	CDK13	39993884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.281000	0.72632	2.280000	0.76307	0.460000	0.39030	AAA		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		4	226	0	0	0	1	0	4	226					C	40027359	A	C	40027359	3	2	20	1	0	0	0	0	1	0	0	0	3138	14	1	4	1379	4	CDK13	7	40027359	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	34382376	40027359	119111304	69	2464											
GLI3	2737	broad.mit.edu	37	chr7	42005299	42005299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcaaagtcaccgggcccGtggggcactttgctgtcgtc	14	13	2	0	rs542238121		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:42005299G>A	ENST00000395925.3	-	15	3456	c.3372C>T	c.(3370-3372)caC>caT	p.H1124H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1124					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCGGGCCCGTGGGGCACTT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	1	0.000199681	0.0	0.0	5008	,	,		15149	0.001		0.0	False		,,,				2504	0.0					ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3370-3372)caC>caT		GLI family zinc finger 3							54	60	58					7																	42005299		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005299G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3372C>T	7.37:g.42005299G>A						GLI3_ENST00000479210.1_5'UTR	p.H1124H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3456	-			1124					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3372C>T	CCDS5465.1																																																																																				0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		97	370	0	0	0	1	0	97	370					A	42005299	G	A	42005299	2	1	20	1	0	0	0	0	0	0	0	1	6468	1136	40	1		1	GLI3	7	42005299	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1977940	42005299	117133364	70	2465											
OGDH	4967	broad.mit.edu	37	chr7	44715672	44715672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccaacccttcccaccTtgaggccgctgaccccgtgg	12	17	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:44715672T>C	ENST00000222673.5	+	9	1172	c.1130T>C	c.(1129-1131)cTt>cCt	p.L377P	OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000543843.1_Missense_Mutation_p.L328P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	377					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTTCCCACCTTGAGGCCGCT	0.557																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1129-1131)cTt>cCt		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						133	115	121					7																	44715672		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44715672T>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1130T>C	7.37:g.44715672T>C	ENSP00000222673:p.Leu377Pro					OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P	p.L377P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			9	1172	+			377					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1130T>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306757	0.81247	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;T;D;D;D;D;D	0.95788	-3.81;2.0;-3.81;-3.81;-3.81;-3.81;-3.81	5.14	5.14	0.70334	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.98996	4.395	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99521	1.0958	10	0.87932	D	0	-27.6918	14.9242	0.70862	0.0:0.0:0.0:1.0	.	172;227;373;388;279;377;377	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218;Q96DD3	.;.;.;.;.;ODO1_HUMAN;.	P	227;377;373;388;392;377;328	ENSP00000398576:L227P;ENSP00000388084:L377P;ENSP00000392878:L373P;ENSP00000388183:L388P;ENSP00000414662:L392P;ENSP00000222673:L377P;ENSP00000443821:L328P	ENSP00000222673:L377P	L	+	2	0	OGDH	44682197	1.000000	0.71417	0.987000	0.45799	0.892000	0.51952	7.788000	0.85771	2.063000	0.61619	0.379000	0.24179	CTT		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			71	410	0	0	0	1	0	71	410					C	44715672	T	C	44715672	3	2	20	1	0	0	0	0	1	0	0	0	10881	1609	56	4	1255	4	OGDH	7	44715672	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	2710373	44715672	114422991	71	2466											
C7orf57	136288	broad.mit.edu	37	chr7	48080979	48080979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagaaggccgtggatgCcccaccagcgtcccagatcc	11	16	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:48080979C>T	ENST00000348904.3	+	3	316	c.104C>T	c.(103-105)gCc>gTc	p.A35V	C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	35										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCCGTGGATGCCCCACCAGCG	0.567																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(103-105)gCc>gTc		chromosome 7 open reading frame 57							53	57	56					7																	48080979		1934	4147	6081	SO:0001583	missense	136288							g.chr7:48080979C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.104C>T	7.37:g.48080979C>T	ENSP00000335500:p.Ala35Val					C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V	p.A35V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	316	+			35					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.104C>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.909812	0.02434	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.69	-1.12	0.09808	.	0.758231	0.12566	N	0.457767	T	0.29491	0.0735	N	0.11698	0.16	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.22765	-1.0207	10	0.18710	T	0.47	-42.8651	9.8678	0.41154	0.0:0.4479:0.0:0.5521	.	35	Q8NEG2	CG057_HUMAN	V	80;80;35;35	ENSP00000394648:A80V;ENSP00000410944:A80V;ENSP00000335500:A35V;ENSP00000442474:A35V	ENSP00000335500:A35V	A	+	2	0	C7orf57	48047504	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.525000	0.06214	-0.112000	0.11979	-0.251000	0.11542	GCC		0.567	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		4	206	0	0	0	1	0	4	206					T	48080979	C	T	48080979	3	4	20	1	0	0	0	0	1	0	0	0	2411	739	26	2	110	2	C7orf57	7	48080979	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3365307	48080979	111057684	72	2467											
MAGI2	9863	broad.mit.edu	37	chr7	77885649	77885649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaactgactgtgaggtcCgagaaatgtactccaaatat	10	8	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:77885649C>T	ENST00000354212.4	-	10	1911	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	553					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGAGGTCCGAGAAATGTA	0.512																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1657-1659)cGg>cAg		membrane associated guanylate kinase, WW and PDZ domain containing 2							124	100	109					7																	77885649		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885649C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1658G>A	7.37:g.77885649C>T	ENSP00000346151:p.Arg553Gln					MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q	p.R553Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1911	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	553					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1658G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488783	0.44249	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10382	2.97;2.98;2.88;3.82;3.83	5.94	5.06	0.68205	.	0.000000	0.33253	U	0.005115	T	0.12220	0.0297	N	0.16790	0.44	0.49130	D	0.999757	D;B;D;D;B;D	0.76494	0.988;0.145;0.998;0.998;0.376;0.999	P;B;P;P;B;P	0.55011	0.507;0.018;0.652;0.652;0.068;0.766	T	0.23940	-1.0174	10	0.11485	T	0.65	.	14.5211	0.67851	0.0:0.9297:0.0:0.0703	.	390;385;553;553;553;553	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	Q	553;553;553;553;385;390	ENSP00000405766:R553Q;ENSP00000346151:R553Q;ENSP00000428389:R553Q;ENSP00000441584:R385Q;ENSP00000441603:R390Q	ENSP00000346151:R553Q	R	-	2	0	MAGI2	77723585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.243000	0.51392	1.519000	0.48950	0.561000	0.74099	CGG		0.512	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		38	163	0	0	0	1	0	38	163					T	77885649	C	T	77885649	3	4	20	1	0	0	0	0	1	0	0	0	9232	652	23	1	2761	1	MAGI2	7	77885649	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	29804670	77885649	81253014	73	2468											
DOCK4	9732	broad.mit.edu	37	chr7	111368508	111368508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggcgccgcagagtcCgctcgtagacgctgtacggg	18	12	0	2	rs374504389		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:111368508C>T	ENST00000437633.1	-	52	5979	c.5723G>A	c.(5722-5724)cGg>cAg	p.R1908Q	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1917Q|DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGCAGAGTCCGCTCGTAGAC	0.731																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(5749-5751)cGg>cAg		dedicator of cytokinesis 4		C	GLN/ARG	0,4120		0,0,2060	23	29	27		5723	5.6	1	7		27	1,8365		0,1,4182	no	missense	DOCK4	NM_014705.3	43	0,1,6242	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1908/1967	111368508	1,12485	2060	4183	6243	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368508C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5723G>A	7.37:g.111368508C>T	ENSP00000404179:p.Arg1908Gln					DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q|DOCK4_ENST00000437633.1_Missense_Mutation_p.R1908Q	p.R1917Q			Q8N1I0	DOCK4_HUMAN			53	6022	-		Acute lymphoblastic leukemia(1;0.0441)	1908		P -> L.	Pro-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5750G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.850010|5.850010	0.97023|0.97023	0.0|0.0	1.2E-4|1.2E-4	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.32753	.|1.44;1.44;1.44	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.57536|0.57536	1.79|1.79	0.46927|0.46927	D|D	0.999258|0.999258	.|D;P;D;D;D;D	.|0.89917	.|0.994;0.951;0.981;0.994;0.997;1.0	.|D;B;B;D;D;D	.|0.85130	.|0.921;0.404;0.391;0.921;0.964;0.997	T|T	0.40515|0.40515	-0.9559|-0.9559	5|10	.|0.33141	.|T	.|0.24	.|.	19.5919|19.5919	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|777;791;1953;1908;1879;221	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	R|Q	1331;1941|1896;1917;791;1908;1867	.|ENSP00000410746:R1917Q;ENSP00000440944:R791Q;ENSP00000404179:R1908Q	.|ENSP00000345432:R1867Q	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111155744|111155744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.513000|5.513000	0.67037|0.67037	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.731	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		62	201	0	0	0	1	0	62	201					T	111368508	C	T	111368508	3	4	20	1	0	0	0	0	1	0	0	0	4705	652	23	1	181	1	DOCK4	7	111368508	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	33482859	111368508	47770155	74	2469											
FOXP2	93986	broad.mit.edu	37	chr7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcaacaacagcagcagCaacaacaacaacaacagcag					rs576887296|rs398124272	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:114269971_114269973delCAA	ENST00000393494.2	+	5	787_789	c.508_510delCAA	c.(508-510)caadel	p.Q191del	FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acagcagcagcaacaacaacaac	0.502														34	0.00678914	0.0015	0.0072	5008	,	,		16128	0.0228		0.004	False		,,,				2504	0.0					ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269971_114269973delCAA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.508_510delCAA	7.37:g.114269980_114269982delCAA	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1103_1105	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.283_285delCAA	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	181						8	181	---	---	---	---	-	114269973	CAA	-	114269971	7	5	20	1	0	1	0	1	0	0	0	0	6054	711	25	0	656	0	FOXP2	7	114269971	In_Frame_Del	DEL	CAA	TCGA-2L-AAQJ-01A-12D-A397-08	2901463	114269971	44868692	75	2470											
FAM71F1	84691	broad.mit.edu	37	chr7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtctcagatttttgCcgacttacaccagcagaacc	7	14	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5																			1	Substitution - Missense(1)	p.A261V(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc		family with sequence similarity 71, member F1							118	116	117					7																	128363345		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128363345C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val					FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	p.A261V	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			4	835	+			261					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	FAM71F1	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		6	411	0	0	0	1	0	6	411					T	128363345	C	T	128363345	3	4	20	1	0	0	0	0	1	0	0	0	5637	739	26	2	796	2	FAM71F1	7	128363345	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	14093374	128363345	30775318	76	2471											
PTPRN2	5799	broad.mit.edu	37	chr7	157926586	157926586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatacgtctggctcttgaCgttctccactccggcagtct	10	13	4	1	rs142388788		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:157926586C>T	ENST00000389418.4	-	9	1348	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	PTPRN2_ENST00000389413.3_Missense_Mutation_p.V447I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	447					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCTTGACGTTCTCCACT	0.612																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1339-1341)Gtc>Atc		protein tyrosine phosphatase, receptor type, N polypeptide 2			ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	70	74	73		1339,1288,1339	2.9	0	7	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	447/1016,430/999,447/987	157926586	1,13005	2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926586C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1339G>A	7.37:g.157926586C>T	ENSP00000374069:p.Val447Ile					PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000389418.4_Missense_Mutation_p.V447I	p.V447I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1442	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	447					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1339G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997688	0.35226	0.0	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.07327	3.29;3.2;3.26;3.29;3.25	3.78	2.88	0.33553	.	0.310886	0.20844	U	0.084645	T	0.05181	0.0138	L	0.32530	0.975	0.26315	N	0.977769	P;P;P;P;P	0.45902	0.868;0.792;0.868;0.792;0.792	B;B;B;B;B	0.30572	0.117;0.055;0.117;0.055;0.055	T	0.32214	-0.9915	10	0.56958	D	0.05	.	9.1024	0.36676	0.0:0.89:0.0:0.11	.	470;409;447;430;447	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	I	409;447;430;447;470	ENSP00000387114:V409I;ENSP00000374064:V447I;ENSP00000374067:V430I;ENSP00000374069:V447I;ENSP00000385464:V470I	ENSP00000374064:V447I	V	-	1	0	PTPRN2	157619347	0.443000	0.25641	0.048000	0.18961	0.043000	0.13939	1.614000	0.36911	0.681000	0.31386	0.585000	0.79938	GTC		0.612	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			123	483	0	0	0	1	0	123	483					T	157926586	C	T	157926586	3	4	20	1	0	0	0	0	1	0	0	0	12858	536	19	1	1768	1	PTPRN2	7	157926586	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	29563241	157926586	1212077	77	2472											
CSMD1	64478	broad.mit.edu	37	chr8	3216706	3216706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggtgcactccacacaCggcggcccccacccaggcag	12	18	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:3216706C>T	ENST00000520002.1	-	22	3830	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCACACACGGCGGCCCCC	0.562																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3274-3276)cGt>cAt		CUB and Sushi multiple domains 1							70	74	72					8																	3216706		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216706C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3275G>A	8.37:g.3216706C>T	ENSP00000430733:p.Arg1092His					CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H	p.R1092H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3830	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1092			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3275G>A		.	.	.	.	.	.	.	.	.	.	c	36	5.695321	0.96793	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.84483	0.5482	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.994	D;D;P	0.85130	0.997;0.957;0.837	D	0.87265	0.2282	10	0.52906	T	0.07	.	19.067	0.93116	0.0:1.0:0.0:0.0	.	1092;1092;1092	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1092;1092;954;1091;1091;1091	ENSP00000383047:R1092H;ENSP00000430733:R1092H;ENSP00000441462:R1091H;ENSP00000446243:R1091H;ENSP00000441675:R1091H	ENSP00000320445:R954H	R	-	2	0	CSMD1	3204113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.762000	0.62250	2.489000	0.83994	0.550000	0.68814	CGT		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	316	0	0	0	1	0	7	316					T	3216706	C	T	3216706	3	4	20	1	0	0	0	0	1	0	0	0	3955	536	19	1	7622	1	CSMD1	8	3216706	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		3216706	143147316	78	2473											
LOXL2	4017	broad.mit.edu	37	chr8	23191082	23191082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtgggcctctgtgccGgtgcagtccatggagaatgg	17	8	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23191082G>A	ENST00000389131.3	-	5	1167	c.798C>T	c.(796-798)acC>acT	p.T266T	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	266	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTGTGCCGGTGCAGTCCA	0.617																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(796-798)acC>acT		lysyl oxidase-like 2							75	62	66					8																	23191082		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191082G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.798C>T	8.37:g.23191082G>A							p.T266T	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1167	-		Prostate(55;0.0453)|Breast(100;0.143)	266			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.798C>T	CCDS34864.1																																																																																				0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	174	0	0	0	1	0	4	174					A	23191082	G	A	23191082	2	1	20	1	0	0	0	0	0	0	0	1	8938	1103	39	1		1	LOXL2	8	23191082	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	19974376	23191082	123172940	79	2474											
ENTPD4	9583	broad.mit.edu	37	chr8	23294452	23294452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcaagggtacctttgCagctttagtaaatttagcag	9	8	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23294452C>T	ENST00000358689.4	-	10	1604	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000521321.1_5'UTR	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	457					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGTACCTTTGCAGCTTTAGTA	0.483																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1369-1371)Gca>Aca		ectonucleoside triphosphate diphosphohydrolase 4							105	110	108					8																	23294452		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23294452C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1369G>A	8.37:g.23294452C>T	ENSP00000351520:p.Ala457Thr					ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T	p.A457T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	10	1604	-		Prostate(55;0.114)	457					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1369G>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132882	0.94517	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.56340	1.77	0.80722	D	1	D;D;D	0.56521	0.976;0.97;0.976	P;P;P	0.61070	0.883;0.857;0.883	T	0.00236	-1.1891	10	0.35671	T	0.21	-17.3279	18.1443	0.89651	0.0:1.0:0.0:0.0	.	449;449;457	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	T	52;449;457;449	ENSP00000430579:A52T;ENSP00000348536:A449T;ENSP00000351520:A457T;ENSP00000408573:A449T	ENSP00000348536:A449T	A	-	1	0	ENTPD4	23350397	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.818000	0.86416	2.631000	0.89168	0.462000	0.41574	GCA		0.483	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		99	427	0	0	0	1	0	99	427					T	23294452	C	T	23294452	3	4	20	1	0	0	0	0	1	0	0	0	5159	710	25	2	497	2	ENTPD4	8	23294452	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	103370	23294452	123069570	80	2475											
DOCK5	80005	broad.mit.edu	37	chr8	25193885	25193885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcccgagtgctctacTtgaggtaatgttaactgcag	9	10	1	1	rs200618924		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:25193885T>C	ENST00000276440.7	+	22	2367	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	775					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGCTCTACTTGAGGTAATG	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		22263	0.001		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2323-2325)Ttg>Ctg		dedicator of cytokinesis 5							97	85	89					8																	25193885		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25193885T>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2323T>C	8.37:g.25193885T>C							p.L775L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	22	2367	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	775					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2323T>C	CCDS6047.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	9.240	1.038124	0.19669	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.76	-4.24	0.03777	.	0.000000	0.64402	D	0.000001	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65348	-0.6190	5	.	.	.	.	15.9667	0.79979	0.0:0.7662:0.0:0.2338	.	.	.	.	P	546	.	.	L	+	2	0	DOCK5	25249802	0.795000	0.28851	0.949000	0.38748	0.803000	0.45373	-0.041000	0.12084	-0.567000	0.06046	-0.263000	0.10527	CTT		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		19	94	0	0	0	1	0	19	94					C	25193885	T	C	25193885	2	2	20	1	0	0	0	0	0	0	0	1	4706	1606	56	4		4	DOCK5	8	25193885	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	1899433	25193885	121170137	81	2476											
NRG1	3084	broad.mit.edu	37	chr8	32505842	32505842	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaccctgaggtgagaacGcccaagtcagcaactcagcc	11	14	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:32505842G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Silent_p.T202T|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						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)			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)		AGGTGAGAACGCCCAAGTCAG	0.493																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(604-606)acG>acA		neuregulin 1							86	72	77					8																	32505842		2203	4300	6503	SO:0001627	intron_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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|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.chr8:32505842G>A	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.502+31439G>A	8.37:g.32505842G>A						NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron	p.T202T	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	606	+		Breast(100;0.203)	463			EGF-like.		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.606G>A	CCDS6085.1																																																																																				0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			50	157	0	0	0	1	0	50	157					A	32505842	G	A	32505842	1	1	20	0	1	0	0	0	0	0	0	0	10689	1074	38	1		1	NRG1	8	32505842	Intron	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	7311957	32505842	113858180	82	2477											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	99	0	0	0	1	0	7	99					G	41790659	T	G	41790659	2	3	20	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	9284817	41790659	104573363	83	2478											
LYN	4067	broad.mit.edu	37	chr8	56863054	56863054	+	Frame_Shift_Del	DEL	A	A	-													aaagcaaagtcccttttaacAaaaaaagaaggcttcatccc							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:56863054delA	ENST00000519728.1	+	5	617	c.321delA	c.(319-321)acafs	p.T107fs	LYN_ENST00000520220.2_Frame_Shift_Del_p.T86fs	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	107	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTTTTAACAAAAAAAGAAG	0.378																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(256-258)acfs		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							203	204	203					8																	56863054		2203	4300	6503	SO:0001589	frameshift_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863054delA	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.321delA	8.37:g.56863054delA	ENSP00000428924:p.Thr107fs					LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs	p.T86fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	532	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	107			SH3.		A0AVQ5	Frame_Shift_Del	DEL	ENST00000519728.1	37	c.258delA	CCDS6162.1																																																																																				0.378	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		8	934						8	934	---	---	---	---	-	56863054	A	-	56863054	7	5	20	1	0	1	0	1	0	0	0	0	9146	117	5	0	335	0	LYN	8	56863054	Frame_Shift_Del	DEL	A	TCGA-2L-AAQJ-01A-12D-A397-08	15072395	56863054	89500968	84	2479											
PAG1	55824	broad.mit.edu	37	chr8	81888976	81888976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgtgctgtttggagTtttttcgaagtctttaacag	12	4	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:81888976T>G	ENST00000220597.4	-	9	1812	c.1102A>C	c.(1102-1104)Act>Cct	p.T368P	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	368					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTGTTTGGAGTTTTTTCGAAG	0.512																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1102-1104)Act>Cct		phosphoprotein associated with glycosphingolipid microdomains 1							89	88	89					8																	81888976		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81888976T>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.1102A>C	8.37:g.81888976T>G	ENSP00000220597:p.Thr368Pro						p.T368P	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1812	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		368					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1102A>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	T	3.651	-0.071468	0.07228	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.05	-2.76	0.05896	.	0.702006	0.14361	N	0.324452	T	0.34687	0.0906	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26815	-1.0092	9	0.45353	T	0.12	-1.9998	6.671	0.23068	0.0:0.1378:0.3656:0.4965	.	368	Q9NWQ8	PAG1_HUMAN	P	368	.	ENSP00000220597:T368P	T	-	1	0	PAG1	82051531	0.005000	0.15991	0.027000	0.17364	0.026000	0.11368	0.003000	0.13083	-0.242000	0.09667	-1.106000	0.02097	ACT		0.512	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		30	266	0	0	0	1	0	30	266					G	81888976	T	G	81888976	3	3	20	1	0	0	0	0	1	0	0	0	11430	1725	60	4	200	4	PAG1	8	81888976	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	25025922	81888976	64475046	85	2480											
COL14A1	7373	broad.mit.edu	37	chr8	121160087	121160087	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcggaaaataaaatgaaGattttccagcgcaagatgcg	10	6	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:121160087G>T	ENST00000297848.3	+	2	276	c.6G>T	c.(4-6)aaG>aaT	p.K2N	COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATAAAATGAAGATTTTCCAGC	0.383																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4-6)aaG>aaT		collagen, type XIV, alpha 1							95	89	91					8																	121160087		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160087G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.6G>T	8.37:g.121160087G>T	ENSP00000297848:p.Lys2Asn					COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR	p.K2N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	276	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		2						Missense_Mutation	SNP	ENST00000297848.3	37	c.6G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697656	0.30142	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.87966	0.45;-2.14;-2.16;-2.32	5.92	5.92	0.95590	.	0.536026	0.19314	N	0.117330	T	0.78214	0.4248	N	0.14661	0.345	0.26614	N	0.972785	B	0.19583	0.037	B	0.17098	0.017	T	0.64296	-0.6441	10	0.27082	T	0.32	.	15.8249	0.78690	0.0:0.0:1.0:0.0	.	2	Q05707	COEA1_HUMAN	N	2	ENSP00000443974:K2N;ENSP00000311809:K2N;ENSP00000297848:K2N;ENSP00000247781:K2N	ENSP00000247781:K2N	K	+	3	2	COL14A1	121229268	1.000000	0.71417	0.513000	0.27749	0.105000	0.19272	2.807000	0.47955	2.818000	0.97014	0.655000	0.94253	AAG		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		26	223	1	0	3.73988e-18	1	3.98169e-18	26	223					T	121160087	G	T	121160087	3	4	20	1	0	0	0	0	1	0	0	0	3680	933	33	3	8	3	COL14A1	8	121160087	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	39271111	121160087	25203935	86	2481											
PTPRD	5789	broad.mit.edu	37	chr9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttgagcacttaccccGcaaaactgtgagtctggtgg	10	11	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(349-351)Cgg>Tgg		protein tyrosine phosphatase, receptor type, D							195	157	170					9																	8633320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633320G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.349C>T	9.37:g.8633320G>A	ENSP00000370593:p.Arg117Trp	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W	p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	892	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	117					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.349C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454414	0.84209	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	0.52;0.52;0.56;0.61;0.7;0.82;0.58;0.48;0.52;0.7;0.81;-0.56	6.05	6.05	0.98169	.	0.126553	0.50627	D	0.000105	D	0.82995	0.5158	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;1.0;0.999;1.0;0.999;0.997	D;P;P;P;P;D;D;P;P;P	0.71414	0.973;0.878;0.827;0.827;0.827;0.911;0.943;0.897;0.849;0.685	T	0.82516	-0.0418	9	.	.	.	.	15.3312	0.74212	0.0:0.0:0.8603:0.1397	.	117;117;117;117;117;117;117;117;117;117	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	117	ENSP00000370593:R117W;ENSP00000348812:R117W;ENSP00000353187:R117W;ENSP00000351293:R117W;ENSP00000347373:R117W;ENSP00000380741:R117W;ENSP00000380735:R117W;ENSP00000440515:R117W;ENSP00000438164:R117W;ENSP00000417093:R117W;ENSP00000380731:R117W;ENSP00000417661:R117W	.	R	-	1	2	PTPRD	8623320	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.534000	0.60622	2.871000	0.98454	0.637000	0.83480	CGG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	393	0	0	0	1	0	6	393					A	8633320	G	A	8633320	3	1	20	1	0	0	0	0	1	0	0	0	12849	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8633320	132580111	87	2482											
CDKN2A	1029	broad.mit.edu	37	chr9	21974769	21974770	+	In_Frame_Ins	INS	-	-	GGCCGT													tctacccgaccccgggccgcINSggccgtggccagccagtcag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:21974769_21974770insGGCCGT	ENST00000304494.5	-	1	327_328	c.57_58insACGGCC	c.(55-60)gccgcg>gccACGGCCgcg	p.18_19insAT	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.18_19insAT|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.18_19insAT	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18			A -> ATA (in CMM2; loss of CDK4 binding).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCGGGCCGCGGCCGTGGCCA	0.743		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1355	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(6)|Deletion - Frameshift(4)|Insertion - In frame(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(47)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI983050	CDKN2A	I		c.(55-60)gccggc>gcACGGCCcggc		cyclin-dependent kinase inhibitor 2A																																				SO:0001652	inframe_insertion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974769_21974770insGGCCGT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.52_57dupACGGCC	9.37:g.21974770_21974775dupGGCCGT	ENSP00000307101:p.Ala17_Thr18dup	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron	p.19_20AG>ARPG	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	327_328	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	19		A -> ATA (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Ins	INS	ENST00000304494.5	37	c.57_58insACGGCC	CCDS6510.1																																																																																				0.743	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		27	140						27	140	---	---	---	---	GGCCGT	21974770	-	GGCCGT	21974769	7	5	20	1	0	1	1	0	0	0	0	0	3170	768	27	0	625	0	CDKN2A	9	21974769	In_Frame_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	13341449	21974769	119238662	88	2483											
SH2D3C	10044	broad.mit.edu	37	chr9	130511512	130511512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggcagccatcgctgcGggtgaccttgtcagcagtga	17	10	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:130511512G>A	ENST00000314830.8	-	5	1230	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	373					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R373S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATCGCTGCGGGTGACCTTG	0.617																																						ENST00000314830.8																			2	Substitution - Missense(2)	p.R373S(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1117-1119)Cgc>Tgc		SH2 domain containing 3C							55	56	56					9																	130511512		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511512G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1117C>T	9.37:g.130511512G>A	ENSP00000317817:p.Arg373Cys					SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C	p.R373C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	1230	-			373					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1117C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986440	0.35036	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830;ENST00000414380	T;T;T;T;T;T;T	0.38722	2.55;2.56;2.3;2.56;1.68;2.51;1.12	5.37	3.42	0.39159	.	0.469026	0.24884	N	0.034822	T	0.33469	0.0864	L	0.51422	1.61	0.47123	D	0.999322	B;B;B;B;B	0.21821	0.007;0.061;0.033;0.007;0.005	B;B;B;B;B	0.14578	0.003;0.011;0.005;0.007;0.004	T	0.15867	-1.0422	10	0.38643	T	0.18	-28.0923	7.986	0.30212	0.0869:0.0:0.6601:0.253	.	213;373;305;216;215	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	C	216;215;305;213;19;373;190	ENSP00000362374:R216C;ENSP00000388536:R215C;ENSP00000362373:R305C;ENSP00000362371:R213C;ENSP00000394632:R19C;ENSP00000317817:R373C;ENSP00000413760:R190C	ENSP00000317817:R373C	R	-	1	0	SH2D3C	129551333	1.000000	0.71417	0.993000	0.49108	0.615000	0.37417	2.677000	0.46892	1.413000	0.46997	0.561000	0.74099	CGC		0.617	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		59	334	0	0	0	1	0	59	334					A	130511512	G	A	130511512	3	1	20	1	0	0	0	0	1	0	0	0	14284	1116	39	1	1497	1	SH2D3C	9	130511512	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	108536743	130511512	10701919	89	2484											
GOLGA2	2801	broad.mit.edu	37	chr9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A													atcattctcgtcagcccggtINSaaaaaaaaggaatgcagggg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564																																						ENST00000421699.2																			2	Deletion - Frameshift(2)	p.Y977fs*9(2)	ovary(1)|large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2965-2967)ccgfs		golgin A2																																				SO:0001589	frameshift_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019389_131019390insA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2966dupT	9.37:g.131019397_131019397dupA	ENSP00000416097:p.Tyr989fs						p.P989fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2977_2978	-			989					Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Ins	INS	ENST00000421699.2	37	c.2965_2966insT	CCDS6896.2																																																																																				0.564	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		8	726						8	726	---	---	---	---	A	131019390	-	A	131019389	7	5	20	1	0	1	1	0	0	0	0	0	6581	1638	57	0	46	0	GOLGA2	9	131019389	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	507877	131019389	10194042	90	2485											
LRRC8A	56262	broad.mit.edu	37	chr9	131669884	131669884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctggttcaaattcccGcgcaccagctcgaagctgga	9	13	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131669884G>A	ENST00000259324.5	+	3	964	c.441G>A	c.(439-441)ccG>ccA	p.P147P	LRRC8A_ENST00000372599.3_Silent_p.P147P|LRRC8A_ENST00000372600.4_Silent_p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	147					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAATTCCCGCGCACCAGCT	0.572																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(439-441)ccG>ccA		leucine rich repeat containing 8 family, member A							74	72	73					9																	131669884		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669884G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.441G>A	9.37:g.131669884G>A						LRRC8A_ENST00000372600.4_Silent_p.P147P|LRRC8A_ENST00000372599.3_Silent_p.P147P	p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	964	+			147					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.441G>A	CCDS35155.1																																																																																				0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		43	157	0	0	0	1	0	43	157					A	131669884	G	A	131669884	2	1	20	1	0	0	0	0	0	0	0	1	9059	1074	38	1		1	LRRC8A	9	131669884	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	650495	131669884	9543547	91	2486											
ENTPD2	954	broad.mit.edu	37	chr9	139944888	139944888	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggcactgctgttgaAgttctggggccgctgggcca	15	12	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:139944888A>T	ENST00000355097.2	-	6	924	c.877T>A	c.(877-879)Ttc>Atc	p.F293I	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I|ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	293					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCTGTTGAAGTTCTGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(877-879)Ttc>Atc		ectonucleoside triphosphate diphosphohydrolase 2							54	55	55					9																	139944888		2203	4300	6503	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944888A>T	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.877T>A	9.37:g.139944888A>T	ENSP00000347213:p.Phe293Ile		OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I	p.F293I	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	924	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	293					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.877T>A	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267428	0.40095	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11277	2.8;2.79	4.95	1.35	0.21983	.	0.427784	0.23684	N	0.045587	T	0.09905	0.0243	L	0.59436	1.845	0.09310	N	1	B;B	0.22541	0.058;0.071	B;B	0.24006	0.03;0.05	T	0.23261	-1.0193	10	0.42905	T	0.14	-9.6179	4.0512	0.09796	0.5803:0.0:0.262:0.1576	.	293;293	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	I	293	ENSP00000347213:F293I;ENSP00000312494:F293I	ENSP00000312494:F293I	F	-	1	0	ENTPD2	139064709	0.411000	0.25384	0.155000	0.22561	0.030000	0.12068	0.623000	0.24447	0.244000	0.21351	0.459000	0.35465	TTC		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		40	141	0	0	0	1	0	40	141					T	139944888	A	T	139944888	3	4	20	1	0	0	0	0	1	0	0	0	5157	72	3	5	626	5	ENTPD2	9	139944888	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	8275004	139944888	1268543	92	2487											
EXD3	54932	broad.mit.edu	37	chr9	140267462	140267462	+	Frame_Shift_Del	DEL	G	G	-													gccagtggtgccgcaaggctGggggggctctcagtgaggac					rs200027265		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:140267462delG	ENST00000340951.4	-	5	552	c.357delC	c.(355-357)cccfs	p.P119fs	EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGCAAGGCTGGGGGGGCTCT	0.647																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(355-357)ccfs		exonuclease 3'-5' domain containing 3																																				SO:0001589	frameshift_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267462delG		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.357delC	9.37:g.140267462delG	ENSP00000340474:p.Pro119fs					EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	p.P119fs	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	552	-			119					Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	ENST00000340951.4	37	c.357delC	CCDS48066.1																																																																																				0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		7	505						7	505	---	---	---	---	-	140267462	G	-	140267462	7	5	20	1	0	1	0	1	0	0	0	0	5317	1335	47	0	2345	0	EXD3	9	140267462	Frame_Shift_Del	DEL	G	TCGA-2L-AAQJ-01A-12D-A397-08	322574	140267462	945969	93	2488											
MYO3A	53904	broad.mit.edu	37	chr10	26434386	26434386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctacagaaaaatttgaaGgtaacctgaaatcacaatac	5	7	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:26434386G>A	ENST00000265944.5	+	22	2594	c.2428G>A	c.(2428-2430)Ggt>Agt	p.G810S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	810	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAATTTGAAGGTAACCTGAA	0.313																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2428-2430)Ggt>Agt		myosin IIIA							60	60	60					10																	26434386		2203	4298	6501	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26434386G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2428G>A	10.37:g.26434386G>A	ENSP00000265944:p.Gly810Ser					MYO3A_ENST00000543632.1_Intron	p.G810S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			22	2594	+			810			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2428G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325787	0.60743	.	.	ENSG00000095777	ENST00000265944	T	0.70164	-0.46	5.72	3.72	0.42706	Myosin head, motor domain (2);	0.357715	0.33144	N	0.005222	T	0.48223	0.1488	N	0.11023	0.085	0.80722	D	1	B	0.26547	0.152	B	0.32928	0.155	T	0.44205	-0.9343	10	0.34782	T	0.22	.	11.4508	0.50151	0.1574:0.0:0.8426:0.0	.	810	Q8NEV4	MYO3A_HUMAN	S	810	ENSP00000265944:G810S	ENSP00000265944:G810S	G	+	1	0	MYO3A	26474392	1.000000	0.71417	0.957000	0.39632	0.999000	0.98932	5.647000	0.67923	1.276000	0.44395	0.655000	0.94253	GGT		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		22	127	0	0	0	1	0	22	127					A	26434386	G	A	26434386	3	1	20	1	0	0	0	0	1	0	0	0	10117	1000	35	2	2506	2	MYO3A	10	26434386	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		26434386	109100361	94	2489											
KIAA1462	57608	broad.mit.edu	37	chr10	30336573	30336573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccccgcggacgtcttacGatgtgcgagggccgcagggc	15	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:30336573G>A	ENST00000375377.1	-	2	270	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	57					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACGTCTTACGATGTGCGAGG	0.662																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(169-171)Cgt>Tgt		KIAA1462							46	51	50					10																	30336573		2026	4175	6201	SO:0001583	missense	57608							g.chr10:30336573G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.169C>T	10.37:g.30336573G>A	ENSP00000364526:p.Arg57Cys						p.R57C	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			2	270	-			57					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.169C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551265	0.45383	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	5.06	1.48	0.22813	.	0.673294	0.14424	N	0.320462	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	D	0.56521	0.976	P	0.44696	0.458	T	0.22626	-1.0211	10	0.56958	D	0.05	-6.0436	4.5512	0.12114	0.0:0.1942:0.1909:0.6149	.	57	Q9P266	K1462_HUMAN	C	57	ENSP00000364526:R57C	ENSP00000364526:R57C	R	-	1	0	KIAA1462	30376579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.567000	0.23608	0.069000	0.16605	0.467000	0.42956	CGT		0.662	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		54	208	0	0	0	1	0	54	208					A	30336573	G	A	30336573	3	1	20	1	0	0	0	0	1	0	0	0	8264	1058	37	1	3922	1	KIAA1462	10	30336573	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3902187	30336573	105198174	95	2490											
PLA2G12B	84647	broad.mit.edu	37	chr10	74701027	74701027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgatatttgttggcaccGcaagtgtcataacagacatc	9	10	1	1	rs141448551		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:74701027G>A	ENST00000373032.3	-	3	458	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	122					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TGTTGGCACCGCAAGTGTCAT	0.493																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(364-366)tgC>tgT		phospholipase A2, group XIIB		G		0,4406		0,0,2203	217	203	208		366	-11	0.1	10	dbSNP_134	208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLA2G12B	NM_032562.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		122/196	74701027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74701027G>A	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.366C>T	10.37:g.74701027G>A							p.C122C	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			3	458	-	Prostate(51;0.0198)		122					B7ZL23|Q52LB2|Q96Q99	Silent	SNP	ENST00000373032.3	37	c.366C>T	CCDS7319.1																																																																																				0.493	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		6	657	0	0	0	1	0	6	657					A	74701027	G	A	74701027	2	1	20	1	0	0	0	0	0	0	0	1	12033	1079	38	1		1	PLA2G12B	10	74701027	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	44364454	74701027	60833720	96	2491											
PLCE1	51196	broad.mit.edu	37	chr10	95791760	95791760	+	Frame_Shift_Del	DEL	G	G	-													gacgcttttaaaagcaaaaaGgagcgatccactttgttagt					rs573916830	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:95791760delG	ENST00000371380.3	+	1	1192	c.957delG	c.(955-957)aagfs	p.K319fs	PLCE1_ENST00000260766.3_Frame_Shift_Del_p.K319fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	319					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAAAAAGGAGCGATCCA	0.388																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(955-957)aafs		phospholipase C, epsilon 1							114	112	113					10																	95791760		1853	4088	5941	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791760delG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.957delG	10.37:g.95791760delG	ENSP00000360431:p.Lys319fs					PLCE1_ENST00000371380.2_Frame_Shift_Del_p.K319fs	p.K319fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1591	+		Colorectal(252;0.0458)	319					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.957delG	CCDS41552.1																																																																																				0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		64	404						64	404	---	---	---	---	-	95791760	G	-	95791760	7	5	20	1	0	1	0	1	0	0	0	0	12076	991	35	0	959	0	PLCE1	10	95791760	Frame_Shift_Del	DEL	G	TCGA-2L-AAQJ-01A-12D-A397-08	21090733	95791760	39742987	97	2492											
HSPA12A	259217	broad.mit.edu	37	chr10	118434408	118434408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggatctccctccgggCgggcaccgcagtgccactgg	15	15	2	0	rs41284376	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:118434408C>T	ENST00000369209.3	-	12	2016	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	638						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCCTCCGGGCGGGCACCGCA	0.577													C|||	17	0.00339457	0.0	0.0014	5008	,	,		17021	0.001		0.0119	False		,,,				2504	0.0031					ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1912-1914)Gcc>Acc		heat shock 70kDa protein 12A		C	THR/ALA	2,3944		0,2,1971	73	76	75		1912	-1	0.3	10	dbSNP_127	75	35,8257		1,33,4112	yes	missense	HSPA12A	NM_025015.2	58	1,35,6083	TT,TC,CC		0.4221,0.0507,0.3023	benign	638/676	118434408	37,12201	1973	4146	6119	SO:0001583	missense	259217						ATP binding	g.chr10:118434408C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1912G>A	10.37:g.118434408C>T	ENSP00000358211:p.Ala638Thr						p.A638T	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2016	-			638						Missense_Mutation	SNP	ENST00000369209.3	37	c.1912G>A	CCDS41569.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	C	0.572	-0.840640	0.02692	5.07E-4	0.004221	ENSG00000165868	ENST00000369209	T	0.41758	0.99	6.02	-1.03	0.10102	.	0.615275	0.18234	N	0.147479	T	0.11367	0.0277	N	0.08118	0	0.19945	N	0.99994	B	0.02656	0.0	B	0.06405	0.002	T	0.23084	-1.0198	10	0.11485	T	0.65	.	5.9177	0.19063	0.0:0.3231:0.366:0.311	rs41284376	638	O43301	HS12A_HUMAN	T	638	ENSP00000358211:A638T	ENSP00000358211:A638T	A	-	1	0	HSPA12A	118424398	0.006000	0.16342	0.315000	0.25238	0.186000	0.23388	0.029000	0.13666	-0.068000	0.12953	0.655000	0.94253	GCC		0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		62	236	0	0	0	1	0	62	236					T	118434408	C	T	118434408	3	4	20	1	0	0	0	0	1	0	0	0	7434	768	27	1	119	1	HSPA12A	10	118434408	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	22642648	118434408	17100339	98	2493											
OR51I1	390063	broad.mit.edu	37	chr11	5462461	5462461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggcaagcattaaacGcaacatggttgtagttgaag	12	7	0	1	rs115148889		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:5462461G>A	ENST00000380211.1	-	1	283	c.284C>T	c.(283-285)gCg>gTg	p.A95V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	95					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)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATTAAACGCAACATGGTT	0.458																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(283-285)gCg>gTg		olfactory receptor, family 51, subfamily I, member 1							138	123	128					11																	5462461		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462461G>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.284C>T	11.37:g.5462461G>A	ENSP00000369559:p.Ala95Val					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.A95V	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.284C>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529926	0.45073	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.37235	1.21	5.78	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	0.518492	0.17730	N	0.163931	T	0.19366	0.0465	L	0.39898	1.24	0.09310	N	1	B	0.27700	0.186	B	0.19148	0.024	T	0.12708	-1.0537	10	0.62326	D	0.03	.	0.4262	0.00464	0.2041:0.2902:0.1998:0.3058	.	95	Q9H343	O51I1_HUMAN	V	80;92;95	ENSP00000369559:A95V	ENSP00000348350:A80V	A	-	2	0	OR51I1	5419037	0.000000	0.05858	0.025000	0.17156	0.074000	0.17049	-2.368000	0.01077	-0.628000	0.05582	-0.231000	0.12243	GCG		0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		52	153	0	0	0	1	0	52	153					A	5462461	G	A	5462461	3	1	20	1	0	0	0	0	1	0	0	0	11142	1087	38	1	664	1	OR51I1	11	5462461	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		5462461	129544055	99	2494											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	1136						8	1136	---	---	---	---	-	35513670	C	-	35513670	7	5	20	1	0	1	0	1	0	0	0	0	11455	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-2L-AAQJ-01A-12D-A397-08	30051209	35513670	99492846	100	2495											
OR5J2	282775	broad.mit.edu	37	chr11	55944377	55944377	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaggcaacaatttctttctCtgcttgcatggtacagcatt	8	9	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:55944377C>G	ENST00000312298.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTCTTTCTCTGCTTGCATG	0.458																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(283-285)tCt>tGt		olfactory receptor, family 5, subfamily J, member 2							169	138	148					11																	55944377		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944377C>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.284C>G	11.37:g.55944377C>G	ENSP00000310788:p.Ser95Cys						p.S95C	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	284	+	Esophageal squamous(21;0.00693)		95					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.284C>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311684	0.40895	.	.	ENSG00000174957	ENST00000312298	T	0.00408	7.54	4.67	-0.729	0.11158	GPCR, rhodopsin-like superfamily (1);	0.831860	0.10480	N	0.669723	T	0.00496	0.0016	L	0.46670	1.46	0.09310	N	1	D	0.67145	0.996	P	0.55785	0.784	T	0.53746	-0.8395	10	0.38643	T	0.18	.	6.1701	0.20412	0.1189:0.5225:0.0:0.3586	.	95	Q8NH18	OR5J2_HUMAN	C	95	ENSP00000310788:S95C	ENSP00000310788:S95C	S	+	2	0	OR5J2	55700953	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.352000	0.07701	-0.056000	0.13221	0.584000	0.79450	TCT		0.458	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		9	409	0	0	0	1	0	9	409					G	55944377	C	G	55944377	3	3	20	1	0	0	0	0	1	0	0	0	11207	913	32	5	286	5	OR5J2	11	55944377	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	20430707	55944377	79062139	101	2496											
SYT12	91683	broad.mit.edu	37	chr11	66807576	66807576	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaacgtggcggtgatgCagggcaaggacctcctggag	17	10	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:66807576C>T	ENST00000393946.2	+	7	1685	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*			Q8IV01	SYT12_HUMAN	synaptotagmin XII	175	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGCGGTGATGCAGGGCAAGGA	0.632																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(523-525)Cag>Tag		synaptotagmin XII							60	58	59					11																	66807576		2200	4295	6495	SO:0001587	stop_gained	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807576C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.523C>T	11.37:g.66807576C>T	ENSP00000377520:p.Gln175*					SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*	p.Q175*			Q8IV01	SYT12_HUMAN			7	1685	+			175			C2 1.			Nonsense_Mutation	SNP	ENST00000393946.2	37	c.523C>T	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273932	0.80580	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	17.1708	0.86830	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000377520:Q175X	Q	+	1	0	SYT12	66564152	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.797000	0.85911	2.655000	0.90218	0.462000	0.41574	CAG		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	226	0	0	0	1	0	5	226					T	66807576	C	T	66807576	4	4	20	1	0	0	0	0	0	1	0	0	15520	711	25	2	533	2	SYT12	11	66807576	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	10863199	66807576	68198940	102	2497											
PDE2A	5138	broad.mit.edu	37	chr11	72295749	72295749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcgatgccctgatcGgccgggatgcggatctcata	13	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:72295749G>A	ENST00000334456.5	-	18	1628	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	PDE2A_ENST00000376450.3_Silent_p.A205A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000418754.2_Silent_p.A346A|PDE2A_ENST00000540345.1_Silent_p.A452A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	461	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGCCCTGATCGGCCGGGATGC	0.622																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1381-1383)gcC>gcT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						46	49	48					11																	72295749		2200	4292	6492	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295749G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1383C>T	11.37:g.72295749G>A						PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000376450.3_Silent_p.A205A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A|PDE2A_ENST00000418754.2_Silent_p.A346A	p.A461A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1628	-			461			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1383C>T	CCDS8216.1																																																																																				0.622	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		35	131	0	0	0	1	0	35	131					A	72295749	G	A	72295749	2	1	20	1	0	0	0	0	0	0	0	1	11678	1103	39	1		1	PDE2A	11	72295749	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5488173	72295749	62710767	103	2498											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	397						7	397	---	---	---	---	-	77069992	CAT	-	77069990	7	5	20	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-2L-AAQJ-01A-12D-A397-08	4774241	77069990	57936526	104	2499											
USP35	57558	broad.mit.edu	37	chr11	77907359	77907359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaagcaggggctggttcGgcgcgtgctggaggcggcgc	21	10	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77907359G>A	ENST00000529308.1	+	2	329	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000441408.2_5'Flank|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	23					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGGCTGGTTCGGCGCGTGCTG	0.716																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(67-69)cGg>cAg		ubiquitin specific peptidase 35							30	36	34					11																	77907359		2186	4275	6461	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907359G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.68G>A	11.37:g.77907359G>A	ENSP00000431876:p.Arg23Gln					USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	p.R23Q	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	329	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		23						Missense_Mutation	SNP	ENST00000529308.1	37	c.68G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652237	0.47362	.	.	ENSG00000118369	ENST00000529308	T	0.05649	3.41	4.31	3.38	0.38709	.	0.000000	0.41823	D	0.000817	T	0.04588	0.0125	L	0.29908	0.895	0.80722	D	1	P	0.35155	0.487	B	0.22152	0.038	T	0.50583	-0.8811	10	0.27785	T	0.31	-28.6736	13.2753	0.60184	0.0:0.0:0.8307:0.1693	.	23	Q9P2H5	UBP35_HUMAN	Q	23	ENSP00000431876:R23Q	ENSP00000431876:R23Q	R	+	2	0	USP35	77585007	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.220000	0.72237	0.989000	0.38761	0.313000	0.20887	CGG		0.716	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		59	226	0	0	0	1	0	59	226					A	77907359	G	A	77907359	3	1	20	1	0	0	0	0	1	0	0	0	17120	1116	39	1	70	1	USP35	11	77907359	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	837369	77907359	57099157	105	2500											
ANKRD49	54851	broad.mit.edu	37	chr11	94230058	94230059	+	Frame_Shift_Ins	INS	-	-	A													agagtggtatcgattgcaagINSaaaaaaaaatggaaaaagac							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:94230058_94230059insA	ENST00000544612.1	+	2	696_697	c.199_200insA	c.(199-201)gaafs	p.E67fs	ANKRD49_ENST00000544253.1_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.E67fs|MRE11A_ENST00000323929.3_5'Flank|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.E67fs	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	67					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGATTGCAAGAAAAAAAAATG	0.381																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(199-201)aaafs		ankyrin repeat domain 49				38,4226		0,38,2094						5.6	1			79	34,8214		0,34,4090	no	frameshift	ANKRD49	NM_017704.2		0,72,6184	A1A1,A1R,RR		0.4122,0.8912,0.5754				72,12440				SO:0001589	frameshift_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230058_94230059insA	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.208dupA	11.37:g.94230067_94230067dupA	ENSP00000440396:p.Glu67fs					ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs	p.K67fs			Q8WVL7	ANR49_HUMAN			2	317_318	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	67					Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Ins	INS	ENST00000544612.1	37	c.199_200insA	CCDS8300.1																																																																																				0.381	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		10	425						10	425	---	---	---	---	A	94230059	-	A	94230058	7	5	20	1	0	1	1	0	0	0	0	0	675	943	33	0	201	0	ANKRD49	11	94230058	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	16322699	94230058	40776458	106	2501											
DYNC2H1	79659	broad.mit.edu	37	chr11	102980335	102980335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgcggacgttcggaagcTcttcatcttcactactaccc	8	14	4	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:102980335T>C	ENST00000375735.2	+	1	176	c.32T>C	c.(31-33)cTc>cCc	p.L11P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	11	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCGGAAGCTCTTCATCTTC	0.507																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(31-33)cTc>cCc		dynein, cytoplasmic 2, heavy chain 1							60	57	58					11																	102980335		1878	4110	5988	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980335T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.32T>C	11.37:g.102980335T>C	ENSP00000364887:p.Leu11Pro					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P	p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	176	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	11			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.32T>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686710	0.29962	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.30182	1.67;1.54;1.67	5.63	3.2	0.36748	.	0.568065	0.12492	U	0.464170	T	0.26738	0.0654	L	0.36672	1.1	0.24814	N	0.992625	B;B;B	0.29590	0.25;0.082;0.066	B;B;B	0.37091	0.241;0.05;0.079	T	0.15578	-1.0432	10	0.30854	T	0.27	.	8.7491	0.34605	0.1029:0.0:0.2424:0.6546	.	11;11;11	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	P	11	ENSP00000364887:L11P;ENSP00000334021:L11P;ENSP00000381167:L11P	ENSP00000334021:L11P	L	+	2	0	DYNC2H1	102485545	0.140000	0.22579	0.989000	0.46669	0.993000	0.82548	0.695000	0.25527	2.137000	0.66172	0.482000	0.46254	CTC		0.507	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		10	103	0	0	0	1	0	10	103					C	102980335	T	C	102980335	3	2	20	1	0	0	0	0	1	0	0	0	4862	1551	54	4	34	4	DYNC2H1	11	102980335	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	8750277	102980335	32026181	107	2502											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343367	130343367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaccaggtggagcagcCggacgacaggccccctgcac	12	17	0	0	rs200241034		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:130343367C>T	ENST00000299164.2	+	8	2504	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	835	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGAGCAGCCGGACGACAGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		13674	0.001		0.0	False		,,,				2504	0.0					ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2503-2505)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							45	55	52					11																	130343367		2193	4287	6480	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343367C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2504C>T	11.37:g.130343367C>T	ENSP00000299164:p.Pro835Leu						p.P835L	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2504	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	835			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2504C>T	CCDS8488.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.83	1.754593	0.31046	.	.	ENSG00000166106	ENST00000299164	T	0.61742	0.08	5.69	4.77	0.60923	.	.	.	.	.	T	0.35393	0.0930	N	0.08118	0	0.37764	D	0.926416	B	0.25105	0.118	B	0.14578	0.011	T	0.24870	-1.0148	9	0.19147	T	0.46	.	14.1591	0.65434	0.1583:0.8417:0.0:0.0	.	835	Q8TE58	ATS15_HUMAN	L	835	ENSP00000299164:P835L	ENSP00000299164:P835L	P	+	2	0	ADAMTS15	129848577	0.000000	0.05858	0.681000	0.30009	0.939000	0.58152	1.050000	0.30404	1.373000	0.46208	0.655000	0.94253	CCG		0.697	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		111	374	0	0	0	1	0	111	374					T	130343367	C	T	130343367	3	4	20	1	0	0	0	0	1	0	0	0	260	652	23	1	2534	1	ADAMTS15	11	130343367	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	27363032	130343367	4663149	108	2503											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		15	183	0	0	0	1	0	15	183					C	3649787	T	C	3649787	3	2	20	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08		3649787	130202108	109	2504											
VWF	7450	broad.mit.edu	37	chr12	6138548	6138548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggagatgctcaggtggCggtcccagaccacggagagg	16	12	1	3	rs181452677		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:6138548C>T	ENST00000261405.5	-	22	3181	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	976	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCAGGTGGCGGTCCCAGAC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19884	0.0		0.0	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2926-2928)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						147	134	138					12																	6138548		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138548C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2927G>A	12.37:g.6138548C>T	ENSP00000261405:p.Arg976His						p.R976H	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			22	3181	-			976			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2927G>A	CCDS8539.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.964	0.178991	0.09443	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	4.58	-4.91	0.03085	von Willebrand factor, type D domain (3);	1.340220	0.05412	N	0.542595	T	0.42471	0.1204	L	0.31578	0.945	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.30268	-0.9984	10	0.32370	T	0.25	.	10.1299	0.42672	0.111:0.1943:0.0:0.6948	.	976	P04275	VWF_HUMAN	H	976	ENSP00000261405:R976H	ENSP00000261405:R976H	R	-	2	0	VWF	6008809	0.000000	0.05858	0.141000	0.22245	0.187000	0.23431	-0.956000	0.03865	-1.024000	0.03338	-0.347000	0.07816	CGC		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		75	245	0	0	0	1	0	75	245					T	6138548	C	T	6138548	3	4	20	1	0	0	0	0	1	0	0	0	17300	768	27	1	5638	1	VWF	12	6138548	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	2488761	6138548	127713347	110	2505											
LPCAT3	10162	broad.mit.edu	37	chr12	7086376	7086376	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatataaggcaatatgaataGtaggctcaggaagaagatgt	11	3	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:7086376G>C	ENST00000261407.4	-	12	1481	c.1396C>G	c.(1396-1398)Cta>Gta	p.L466V	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	466					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AATATGAATAGTAGGCTCAGG	0.418																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1396-1398)Cta>Gta		lysophosphatidylcholine acyltransferase 3							88	90	89					12																	7086376		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086376G>C	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1396C>G	12.37:g.7086376G>C	ENSP00000261407:p.Leu466Val					U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.L466V	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1481	-			466					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1396C>G	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379121	0.24944	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	4.77	2.95	0.34219	.	0.147474	0.46758	D	0.000278	T	0.63698	0.2533	L	0.39898	1.24	0.48696	D	0.999699	P	0.49090	0.919	B	0.42087	0.375	T	0.58994	-0.7537	10	0.32370	T	0.25	-13.8297	10.1817	0.42972	0.2237:0.0:0.7763:0.0	.	466	Q6P1A2	MBOA5_HUMAN	V	466	ENSP00000261407:L466V	ENSP00000261407:L466V	L	-	1	2	LPCAT3	6956637	0.980000	0.34600	0.277000	0.24703	0.895000	0.52256	1.816000	0.38992	0.627000	0.30340	-0.258000	0.10820	CTA		0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		62	158	0	0	0	1	0	62	158					C	7086376	G	C	7086376	3	2	20	1	0	0	0	0	1	0	0	0	8950	1020	36	5	71	5	LPCAT3	12	7086376	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	947828	7086376	126765519	111	2506											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		55	180	0	0	0	1	0	55	180					T	25398284	C	T	25398284	3	4	20	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	18311908	25398284	108453611	112	2507											
ITPR2	3709	broad.mit.edu	37	chr12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-													caattcattgtcatcgtcccTttttttgttacctaaatcta							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					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)		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)	TCATCGTCCCTTTTTTTGTTA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(5509-5511)ggfs		inositol 1,4,5-trisphosphate receptor, type 2							206	188	193					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	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.chr12:26640046delT	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.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs						p.R1837fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5925	-	Colorectal(261;0.0847)		1837					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.5509delA	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	406						7	406	---	---	---	---	-	26640046	T	-	26640046	7	5	20	1	0	1	0	1	0	0	0	0	7951	1608	56	0	2668	0	ITPR2	12	26640046	Frame_Shift_Del	DEL	T	TCGA-2L-AAQJ-01A-12D-A397-08	1241762	26640046	107211849	113	2508											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	742						9	742	---	---	---	---	-	55615116	CTT	-	55615114	7	5	20	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-2L-AAQJ-01A-12D-A397-08	28975068	55615114	78236781	114	2509											
IRAK3	11213	broad.mit.edu	37	chr12	66641598	66641598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaccaagtattccagtgGaagatgatgaaagccagaat	10	6	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:66641598G>A	ENST00000261233.4	+	12	1859	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCAGTGGAAGATGATGA	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1438-1440)Gaa>Aaa		interleukin-1 receptor-associated kinase 3							126	117	120					12																	66641598		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641598G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1438G>A	12.37:g.66641598G>A	ENSP00000261233:p.Glu480Lys					IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	p.E480K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1859	+			480						Missense_Mutation	SNP	ENST00000261233.4	37	c.1438G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955128	0.92726	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73258	-0.69;-0.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	L	0.36672	1.1	0.40471	D	0.980346	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.75628	-0.3252	9	.	.	.	-27.7703	15.4984	0.75677	0.0:0.0:1.0:0.0	.	419;480	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	480;419	ENSP00000261233:E480K;ENSP00000409852:E419K	.	E	+	1	0	IRAK3	64927865	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.853000	0.62911	2.724000	0.93272	0.561000	0.74099	GAA		0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			65	210	0	0	0	1	0	65	210					A	66641598	G	A	66641598	3	1	20	1	0	0	0	0	1	0	0	0	7854	1175	41	2	1484	2	IRAK3	12	66641598	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	11026484	66641598	67210297	115	2510											
CAND1	55832	broad.mit.edu	37	chr12	67691335	67691335	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatatagtttttgtagatCttattgaacatctgttgtca	7	4	3	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:67691335C>T	ENST00000545606.1	+	5	1077	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	214					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTTGTAGATCTTATTGAACA	0.403																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(640-642)Ctt>Ttt		cullin-associated and neddylation-dissociated 1							127	124	125					12																	67691335		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691335C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.640C>T	12.37:g.67691335C>T	ENSP00000442318:p.Leu214Phe						p.L214F	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	5	1077	+			214					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.640C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963385	0.92791	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.67865	-0.29	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76940	-0.2773	9	.	.	.	-12.9708	19.6379	0.95744	0.0:1.0:0.0:0.0	.	214	Q86VP6	CAND1_HUMAN	F	214;214;56	ENSP00000442318:L214F	.	L	+	1	0	CAND1	65977602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	CTT		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		87	290	0	0	0	1	0	87	290					T	67691335	C	T	67691335	3	4	20	1	0	0	0	0	1	0	0	0	2622	913	32	2	658	2	CAND1	12	67691335	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	1049737	67691335	66160560	116	2511											
RFX4	5992	broad.mit.edu	37	chr12	107090097	107090097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttttggcaaggaatgCcgccccacatgctgcctgtg	11	13	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:107090097C>T	ENST00000392842.1	+	8	1120	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S|RFX4_ENST00000357881.4_Missense_Mutation_p.P245S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	236					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAAGGAATGCCGCCCCACAT	0.552																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(706-708)Ccg>Tcg		regulatory factor X, 4 (influences HLA class II expression)							133	114	121					12																	107090097		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090097C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.706C>T	12.37:g.107090097C>T	ENSP00000376585:p.Pro236Ser					RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S	p.P236S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			8	1120	+			236					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.706C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022647	0.93462	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.85955	-0.13;-0.14;-2.05;0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.60067	1.865	0.80722	D	1	D;D;D;P	0.89917	1.0;0.996;0.996;0.554	D;D;D;P	0.87578	0.998;0.991;0.991;0.449	D	0.91950	0.5570	10	0.87932	D	0	-17.054	19.3157	0.94213	0.0:1.0:0.0:0.0	.	142;245;245;236	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	S	236;245;245;181;142	ENSP00000376585:P236S;ENSP00000350552:P245S;ENSP00000448694:P181S;ENSP00000229387:P142S	ENSP00000229387:P142S	P	+	1	0	RFX4	105614227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.551000	0.86045	0.655000	0.94253	CCG		0.552	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		6	417	0	0	0	1	0	6	417					T	107090097	C	T	107090097	3	4	20	1	0	0	0	0	1	0	0	0	13315	739	26	2	909	2	RFX4	12	107090097	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	39398762	107090097	26761798	117	2512											
BTBD11	121551	broad.mit.edu	37	chr12	108051434	108051434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctccaggacttacagaGgacgttggccatcagaattc	11	10	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108051434G>T	ENST00000280758.5	+	17	3782	c.3254G>T	c.(3253-3255)aGg>aTg	p.R1085M	BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1085						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GACTTACAGAGGACGTTGGCC	0.493																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3253-3255)aGg>aTg		BTB (POZ) domain containing 11							128	114	119					12																	108051434		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108051434G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3254G>T	12.37:g.108051434G>T	ENSP00000280758:p.Arg1085Met					BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M	p.R1085M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			17	3782	+			1085					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3254G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402325	0.83230	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.39997	1.26;1.39;1.05;1.17	5.84	5.84	0.93424	.	0.085133	0.85682	D	0.000000	T	0.41026	0.1141	N	0.22421	0.69	0.58432	D	0.999994	D;D	0.56521	0.976;0.976	P;P	0.47744	0.459;0.556	T	0.22103	-1.0226	10	0.48119	T	0.1	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	622;1085	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1085;966;622;164	ENSP00000280758:R1085M;ENSP00000413889:R966M;ENSP00000349690:R622M;ENSP00000448322:R164M	ENSP00000280758:R1085M	R	+	2	0	BTBD11	106575564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.694000	0.68272	2.760000	0.94817	0.655000	0.94253	AGG		0.493	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		38	181	1	0	6.86731e-36	1	7.50542e-36	38	181					T	108051434	G	T	108051434	3	4	20	1	0	0	0	0	1	0	0	0	1543	1000	35	3	3425	3	BTBD11	12	108051434	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	961337	108051434	25800461	118	2513											
PRDM4	11108	broad.mit.edu	37	chr12	108138409	108138409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggtccaaagcaagtccGcacaggaatggtttctccag	11	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108138409G>A	ENST00000228437.5	-	7	1765	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	436	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGCAAGTCCGCACAGGAATG	0.463																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1306-1308)Cgg>Tgg		PR domain containing 4							155	134	141					12																	108138409		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108138409G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1306C>T	12.37:g.108138409G>A	ENSP00000228437:p.Arg436Trp					RP11-864J10.4_ENST00000546714.1_RNA	p.R436W	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			7	1765	-			436			SET.		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1306C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108122	0.77096	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.41758	0.99;0.99	5.88	4.98	0.66077	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.78049	2.395	0.53688	D	0.999977	D	0.62365	0.991	B	0.43331	0.416	T	0.50980	-0.8763	10	0.54805	T	0.06	-1.7026	8.8668	0.35291	0.0726:0.0:0.6819:0.2455	.	436	Q9UKN5	PRDM4_HUMAN	W	436;188	ENSP00000228437:R436W;ENSP00000449295:R188W	ENSP00000228437:R436W	R	-	1	2	PRDM4	106662539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.390000	0.52523	1.481000	0.48307	0.655000	0.94253	CGG		0.463	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		5	256	0	0	0	1	0	5	256					A	108138409	G	A	108138409	3	1	20	1	0	0	0	0	1	0	0	0	12506	1086	38	1	1123	1	PRDM4	12	108138409	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	86975	108138409	25713486	119	2514											
TRPV4	59341	broad.mit.edu	37	chr12	110221488	110221488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggtggccatcgcagcGggggttccccatgctgtcca	14	14	0	0	rs372583866		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:110221488G>A	ENST00000418703.2	-	15	2648	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	852					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCATCGCAGCGGGGGTTCCCC	0.642																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2554-2556)Cgc>Tgc		transient receptor potential cation channel, subfamily V, member 4		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	65	55	58		2413,2452,2233,2554,2374	1.7	1	12		58	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	805/825,818/838,745/765,852/872,792/812	110221488	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110221488G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2554C>T	12.37:g.110221488G>A	ENSP00000406191:p.Arg852Cys					TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C	p.R852C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			15	2648	-			852					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2554C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909237	0.33721	0.0	1.16E-4	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.29;-2.5;-2.29;-2.5;-2.29;-2.5	5.39	1.7	0.24286	.	0.722577	0.14111	N	0.340695	T	0.72028	0.3410	N	0.08118	0	0.28470	N	0.915481	P;B;P;B;B	0.41546	0.754;0.389;0.584;0.34;0.167	B;B;B;B;B	0.34722	0.188;0.083;0.13;0.097;0.123	T	0.67604	-0.5628	10	0.62326	D	0.03	-0.0455	4.314	0.10984	0.0:0.2373:0.1878:0.5749	.	792;852;745;805;818	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	852;852;805;792;745;792;805;818	ENSP00000406191:R852C;ENSP00000261740:R852C;ENSP00000376480:R805C;ENSP00000319003:R792C;ENSP00000443611:R745C;ENSP00000442738:R792C;ENSP00000442167:R805C;ENSP00000444336:R818C	ENSP00000261740:R852C	R	-	1	0	TRPV4	108705871	0.983000	0.35010	0.998000	0.56505	0.533000	0.34776	0.091000	0.15046	0.356000	0.24157	-0.397000	0.06425	CGC		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		34	140	0	0	0	1	0	34	140					A	110221488	G	A	110221488	3	1	20	1	0	0	0	0	1	0	0	0	16651	1116	39	1	65	1	TRPV4	12	110221488	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2083079	110221488	23630407	120	2515											
C12orf51	283450	broad.mit.edu	37	chr12	112642326	112642326	+	Nonsense_Mutation	SNP	C	C	A													aattgtgaacttgtttgcttCgtctttaatgtcttcaatgg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642326C>A	ENST00000430131.2	-	52	8112	c.6967G>T	c.(6967-6969)Gaa>Taa	p.E2323*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E2599*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2323					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGTTTGCTTCGTCTTTAATG	0.393																																						ENST00000550722.1																			0											c.(7795-7797)Gaa>Taa		HECT domain containing E3 ubiquitin protein ligase 4							95	95	95					12																	112642326		1896	4103	5999	SO:0001587	stop_gained	283450							g.chr12:112642326C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6967G>T	12.37:g.112642326C>A	ENSP00000404379:p.Glu2323*					HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.E2323*	p.E2599*	NM_001109662.3	NP_001103132.3					53	8190	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.7795G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.857617	0.97030	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	2573;2323;2599	.	ENSP00000366783:E2573X	E	-	1	0	C12orf51	111126709	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.261000	0.78400	2.941000	0.99782	0.655000	0.94253	GAA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		17	176	1	0	3.62473e-10	1	3.77767e-10	17	176					A	112642326	C	A	112642326	4	1	20	1	0	0	0	0	0	1	0	0	1701	893	31	3	5119	3	C12orf51	12	112642326	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	2420838	112642326	21209569	121	2516	16	2									
C12orf51	283450	broad.mit.edu	37	chr12	112642327	112642327	+	Silent	SNP	G	G	A													attgtgaacttgtttgcttcGtctttaatgtcttcaatggt					rs564756313	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642327G>A	ENST00000430131.2	-	52	8111	c.6966C>T	c.(6964-6966)gaC>gaT	p.D2322D	HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000550722.1_Silent_p.D2598D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2322					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGTTTGCTTCGTCTTTAATGT	0.398													G|||	2	0.000399361	0.0	0.0	5008	,	,		21060	0.0		0.0	False		,,,				2504	0.002					ENST00000550722.1																			0											c.(7792-7794)gaC>gaT		HECT domain containing E3 ubiquitin protein ligase 4							95	95	95					12																	112642327		1893	4100	5993	SO:0001819	synonymous_variant	283450							g.chr12:112642327G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6966C>T	12.37:g.112642327G>A						HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000430131.2_Silent_p.D2322D	p.D2598D	NM_001109662.3	NP_001103132.3					53	8189	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7794C>T		.	.	.	.	.	.	.	.	.	.	G	8.742	0.919312	0.17982	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.69824	0.3154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81278	-0.1005	4	.	.	.	.	22.406	0.99971	0.324:0.0:0.676:0.0	.	.	.	.	M	489	.	.	T	-	2	0	C12orf51	111126710	0.000000	0.05858	0.095000	0.20976	0.996000	0.88848	-1.325000	0.02687	-2.850000	0.00331	-0.290000	0.09829	ACG		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		17	171	0	0	0	1	0	17	171					A	112642327	G	A	112642327	2	1	20	1	0	0	0	0	0	0	0	1	1701	1136	40	1		1	C12orf51	12	112642327	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1	112642327	21209568	122	2517	16	2									
C12orf51	283450	broad.mit.edu	37	chr12	112642347	112642347	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaatgtcttcaatggTgggaagataaaggtctcttg	11	5	4	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642347T>G	ENST00000430131.2	-	52	8091	c.6946A>C	c.(6946-6948)Acc>Ccc	p.T2316P	HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000550722.1_Missense_Mutation_p.T2592P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2316					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCTTCAATGGTGGGAAGATAA	0.388																																						ENST00000550722.1																			0											c.(7774-7776)Acc>Ccc		HECT domain containing E3 ubiquitin protein ligase 4							89	88	88					12																	112642347		1872	4105	5977	SO:0001583	missense	283450							g.chr12:112642347T>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6946A>C	12.37:g.112642347T>G	ENSP00000404379:p.Thr2316Pro					HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000430131.2_Missense_Mutation_p.T2316P	p.T2592P	NM_001109662.3	NP_001103132.3					53	8169	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7774A>C		.	.	.	.	.	.	.	.	.	.	T	29.9	5.047688	0.93740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.24350	1.86;1.86;1.86	6.17	6.17	0.99709	.	.	.	.	.	T	0.40171	0.1106	L	0.27053	0.805	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.28106	-1.0054	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2316	Q9Y4D8	K0614_HUMAN	P	2566;2316;2592	ENSP00000366783:T2566P;ENSP00000404379:T2316P;ENSP00000449784:T2592P	ENSP00000366783:T2566P	T	-	1	0	C12orf51	111126730	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.465000	0.80898	2.371000	0.80710	0.533000	0.62120	ACC		0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		15	150	0	0	0	1	0	15	150					G	112642347	T	G	112642347	3	3	20	1	0	0	0	0	1	0	0	0	1701	1696	59	4	5140	4	C12orf51	12	112642347	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	20	112642347	21209548	123	2518											
CLIP1	6249	broad.mit.edu	37	chr12	122825945	122825945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcttttcaatgactcGttctctttggaaagcttttc	7	9	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:122825945G>A	ENST00000540338.1	-	10	1847	c.1806C>T	c.(1804-1806)aaC>aaT	p.N602N	CLIP1_ENST00000537178.1_Silent_p.N556N|CLIP1_ENST00000358808.2_Silent_p.N591N|CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000302528.7_Silent_p.N591N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	602					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)			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)		TCAATGACTCGTTCTCTTTGG	0.468																																						ENST00000358808.2																			0				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						c.(1771-1773)aaC>aaT		CAP-GLY domain containing linker protein 1							140	131	134					12																	122825945		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825945G>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.1806C>T	12.37:g.122825945G>A						CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000302528.7_Silent_p.N591N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000537178.1_Silent_p.N556N	p.N591N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1927	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		602					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1773C>T	CCDS58285.1																																																																																				0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		103	601	0	0	0	1	0	103	601					A	122825945	G	A	122825945	2	1	20	1	0	0	0	0	0	0	0	1	3541	1136	40	1		1	CLIP1	12	122825945	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	10183598	122825945	11025950	124	2519											
SACS	26278	broad.mit.edu	37	chr13	23912096	23912096	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagactttggtcagttcTttcccttttccatgagctat	8	9	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:23912096T>G	ENST00000382292.3	-	9	6192	c.5919A>C	c.(5917-5919)aaA>aaC	p.K1973N	SACS_ENST00000382298.3_Missense_Mutation_p.K1973N|SACS_ENST00000402364.1_Missense_Mutation_p.K1223N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1973					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGTCAGTTCTTTCCCTTTTC	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5917-5919)aaA>aaC		spastic ataxia of Charlevoix-Saguenay (sacsin)							61	64	63					13																	23912096		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912096T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5919A>C	13.37:g.23912096T>G	ENSP00000371729:p.Lys1973Asn					SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382292.3_Missense_Mutation_p.K1973N	p.K1973N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6507	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1973					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5919A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	6.072	0.381555	0.11524	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	5.93	-1.21	0.09524	.	0.145938	0.64402	D	0.000008	T	0.78817	0.4343	N	0.25647	0.755	0.30667	N	0.753783	B	0.13594	0.008	B	0.11329	0.006	T	0.66048	-0.6020	10	0.33940	T	0.23	.	10.3333	0.43835	0.0:0.4088:0.0:0.5912	.	1973	Q9NZJ4	SACS_HUMAN	N	1973;1223;1973	ENSP00000371729:K1973N;ENSP00000385844:K1223N;ENSP00000371735:K1973N	ENSP00000371729:K1973N	K	-	3	2	SACS	22810096	1.000000	0.71417	0.742000	0.31022	0.119000	0.20118	0.854000	0.27791	-0.412000	0.07519	-0.353000	0.07706	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		39	221	0	0	0	1	0	39	221					G	23912096	T	G	23912096	3	3	20	1	0	0	0	0	1	0	0	0	13854	1606	56	4	7824	4	SACS	13	23912096	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08		23912096	91257782	125	2520											
FREM2	341640	broad.mit.edu	37	chr13	39262875	39262875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgcaggcagtggtcCgcaaaacttggtcatcagcg	13	12	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:39262875C>T	ENST00000280481.7	+	1	1610	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	465					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P465L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGTGGTCCGCAAAACTTG	0.582																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.P465L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1393-1395)cCg>cTg		FRAS1 related extracellular matrix protein 2							51	54	53					13																	39262875		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262875C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1394C>T	13.37:g.39262875C>T	ENSP00000280481:p.Pro465Leu						p.P465L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1610	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	465					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1394C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062202	0.07317	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.6	2.0	0.26442	.	0.505278	0.18484	N	0.139857	T	0.13756	0.0333	L	0.43152	1.355	0.09310	N	0.999998	B	0.13145	0.007	B	0.06405	0.002	T	0.21621	-1.0240	10	0.34782	T	0.22	.	8.9993	0.36072	0.0:0.6923:0.0:0.3077	.	465	Q5SZK8	FREM2_HUMAN	L	465	ENSP00000280481:P465L	ENSP00000280481:P465L	P	+	2	0	FREM2	38160875	0.000000	0.05858	0.001000	0.08648	0.248000	0.25809	0.505000	0.22642	0.063000	0.16370	-1.036000	0.02392	CCG		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		24	167	0	0	0	1	0	24	167					T	39262875	C	T	39262875	3	4	20	1	0	0	0	0	1	0	0	0	6072	652	23	1	1396	1	FREM2	13	39262875	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	15350779	39262875	75907003	126	2521											
SIAH3	283514	broad.mit.edu	37	chr13	46357678	46357678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaagaacagaccggggcGtggcctcccacttgaggcgc	13	14	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:46357678G>A	ENST00000400405.2	-	2	756	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGACCGGGGCGTGGCCTCCCA	0.612																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(649-651)aCg>aTg		siah E3 ubiquitin protein ligase family member 3							48	54	52					13																	46357678		1999	4152	6151	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357678G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.650C>T	13.37:g.46357678G>A	ENSP00000383256:p.Thr217Met						p.T217M	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	756	-			217					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.650C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748952	0.69533	.	.	ENSG00000215475	ENST00000400405	T	0.27256	1.68	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.44767	0.1309	L	0.44542	1.39	0.51482	D	0.999923	D	0.89917	1.0	D	0.91635	0.999	T	0.31223	-0.9951	10	0.51188	T	0.08	-19.0347	17.4324	0.87543	0.0:0.0:1.0:0.0	.	217	Q8IW03	SIAH3_HUMAN	M	217	ENSP00000383256:T217M	ENSP00000383256:T217M	T	-	2	0	SIAH3	45255679	1.000000	0.71417	0.987000	0.45799	0.493000	0.33554	9.719000	0.98760	2.369000	0.80426	0.561000	0.74099	ACG		0.612	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		37	167	0	0	0	1	0	37	167					A	46357678	G	A	46357678	3	1	20	1	0	0	0	0	1	0	0	0	14351	1145	40	1	163	1	SIAH3	13	46357678	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	7094803	46357678	68812200	127	2522											
SALL2	6297	broad.mit.edu	37	chr14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-													gaggctgatccaggctgtcaGgtggtggtggtggtggcaaa					rs113881459|rs569568436		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		10	419						10	419	---	---	---	---	-	21991336	GGT	-	21991334	7	5	20	1	0	1	0	1	0	0	0	0	13861	1000	35	0	499	0	SALL2	14	21991334	In_Frame_Del	DEL	GGT	TCGA-2L-AAQJ-01A-12D-A397-08		21991334	85358206	128	2523											
JPH4	84502	broad.mit.edu	37	chr14	24040339	24040339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaactgtcgctgcagCctccgaggagtggggaaccg	14	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24040339C>A	ENST00000397118.3	-	6	2503	c.1601G>T	c.(1600-1602)gGc>gTc	p.G534V	JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	534					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCGCTGCAGCCTCCGAGGAG	0.667																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1600-1602)gGc>gTc		junctophilin 4							133	139	137					14																	24040339		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040339C>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1601G>T	14.37:g.24040339C>A	ENSP00000380307:p.Gly534Val					JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V	p.G534V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2503	-	all_cancers(95;0.000251)		534					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1601G>T	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360244	0.61403	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58797	0.31;0.31;0.49	5.08	4.18	0.49190	.	0.000000	0.30620	U	0.009234	T	0.47078	0.1426	N	0.24115	0.695	0.54753	D	0.99998	P;P	0.44241	0.733;0.829	P;B	0.44811	0.461;0.272	T	0.37842	-0.9688	10	0.29301	T	0.29	.	13.4287	0.61042	0.0:0.8261:0.1739:0.0	.	199;534	F5H1L9;Q96JJ6	.;JPH4_HUMAN	V	534;534;534;535;199	ENSP00000348648:G534V;ENSP00000380307:G534V;ENSP00000439562:G199V	ENSP00000267407:G535V	G	-	2	0	JPH4	23110179	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	2.118000	0.41949	1.246000	0.43901	-0.211000	0.12701	GGC		0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		10	948	1	0	7.48243e-07	1	7.76538e-07	10	948					A	24040339	C	A	24040339	3	1	20	1	0	0	0	0	1	0	0	0	7993	739	26	3	293	3	JPH4	14	24040339	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	2049005	24040339	83309201	129	2524											
IPO4	79711	broad.mit.edu	37	chr14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-													gctcagcagccacaatggggAaaagggtgtgcagcaagggt							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)ttcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(886-888)tcfs		importin 4							133	149	144					14																	24655611		1972	4167	6139	SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655611delA	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.887delT	14.37:g.24655611delA	ENSP00000346453:p.Phe296fs					RP11-468E2.2_ENST00000561419.1_3'UTR	p.F296fs	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	10	1063	-			296					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Del	DEL	ENST00000354464.6	37	c.887delT	CCDS9616.1																																																																																				0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		9	764						9	764	---	---	---	---	-	24655611	A	-	24655611	7	5	20	1	0	1	0	1	0	0	0	0	7825	246	9	0	2442	0	IPO4	14	24655611	Frame_Shift_Del	DEL	A	TCGA-2L-AAQJ-01A-12D-A397-08	615272	24655611	82693929	130	2525											
ARHGAP5	394	broad.mit.edu	37	chr14	32562544	32562545	+	Frame_Shift_Ins	INS	-	-	T													gttactgacagccaagcagaINStttttttgaaaatgaggcta							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32562544_32562545insT	ENST00000345122.3	+	2	2984_2985	c.2669_2670insT	c.(2668-2673)gattttfs	p.DF890fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.DF890fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.DF890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.DF890fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	890					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.F892fs*9(2)|p.D890V(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAGCAGATTTTTTTGAAA	0.406																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.F892fs*9(2)|p.D890V(1)	large_intestine(3)	NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2668-2670)gttfs		Rho GTPase activating protein 5																																				SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562544_32562545insT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2676dupT	14.37:g.32562551_32562551dupT	ENSP00000371897:p.Asp890fs					ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.V890fs	p.V890fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2984_2985	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		890					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Ins	INS	ENST00000345122.3	37	c.2669_2670insT	CCDS32062.1																																																																																				0.406	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		87	334						87	334	---	---	---	---	T	32562545	-	T	32562544	7	5	20	1	0	1	1	0	0	0	0	0	886	333	12	0	2671	0	ARHGAP5	14	32562544	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	7906933	32562544	74786996	131	2526											
ARHGAP5	394	broad.mit.edu	37	chr14	32623887	32623887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttatccatctgtttttgGccaaccttgatgagacctga	7	10	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32623887G>A	ENST00000345122.3	+	7	4557	c.4242G>A	c.(4240-4242)tgG>tgA	p.W1414*	ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGTTTTTGGCCAACCTTGA	0.338																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(4240-4242)tgG>tgA		Rho GTPase activating protein 5							105	97	100					14																	32623887		2203	4300	6503	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32623887G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4242G>A	14.37:g.32623887G>A	ENSP00000371897:p.Trp1414*					ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*	p.W1414*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	7	4557	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1414			Rho-GAP.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.4242G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	45	11.775769	0.99601	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5752	0.91153	0.0:0.0:1.0:0.0	.	.	.	.	X	1413;1414;149;1414;1413;153	.	ENSP00000371897:W1414X	W	+	3	0	ARHGAP5	31693638	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.748000	0.98867	2.475000	0.83589	0.549000	0.68633	TGG		0.338	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		84	279	0	0	0	1	0	84	279					A	32623887	G	A	32623887	4	1	20	1	0	0	0	0	0	1	0	0	886	1212	42	2	4264	2	ARHGAP5	14	32623887	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	61343	32623887	74725653	132	2527											
AKAP6	9472	broad.mit.edu	37	chr14	33291973	33291973	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagcaaaagataaaaCgaagtgtttctgatatcact	7	8	3	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:33291973C>T	ENST00000280979.4	+	13	5124	c.4954C>T	c.(4954-4956)Cga>Tga	p.R1652*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	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)			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)		AAAGATAAAACGAAGTGTTTC	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(4954-4956)Cga>Tga		A kinase (PRKA) anchor protein 6							71	71	71					14																	33291973		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291973C>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.4954C>T	14.37:g.33291973C>T	ENSP00000280979:p.Arg1652*					AKAP6_ENST00000557272.1_Intron	p.R1652*	NM_004274.4	NP_004265.3	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	5124	+	Breast(36;0.0388)|Prostate(35;0.15)		1652			Ser-rich.		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.4954C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	44	10.633637	0.99441	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.98	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6398	15.1411	0.72612	0.3707:0.6293:0.0:0.0	.	.	.	.	X	1652	.	ENSP00000280979:R1652X	R	+	1	2	AKAP6	32361724	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.452000	0.60054	0.371000	0.24564	-0.188000	0.12872	CGA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		55	216	0	0	0	1	0	55	216					T	33291973	C	T	33291973	4	4	20	1	0	0	0	0	0	1	0	0	455	528	19	1	5000	1	AKAP6	14	33291973	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	668086	33291973	74057567	133	2528											
DIO3	1735	broad.mit.edu	37	chr14	102028119	102028119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcgaggaggtgcctcccGatgacccgcccatctgcgtg	14	14	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:102028119G>A	ENST00000510508.4	+	1	432	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.D70N			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	96					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGCCTCCCGATGACCCGCC	0.642																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(208-210)Gat>Aat		deiodinase, iodothyronine, type III							42	48	46					14																	102028119		1996	4141	6137	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028119G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.286G>A	14.37:g.102028119G>A	ENSP00000427336:p.Asp96Asn					DIO3_ENST00000510508.4_Missense_Mutation_p.D96N	p.D70N	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	432	+		all_neural(303;0.185)	70					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.208G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607744	0.66558	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.35236	1.37;1.32	3.21	3.21	0.36854	.	0.000000	0.40302	U	0.001121	T	0.54565	0.1866	M	0.80028	2.48	0.28273	N	0.924327	D	0.89917	1.0	D	0.70227	0.968	T	0.46679	-0.9174	10	0.34782	T	0.22	.	7.8692	0.29556	0.124:0.0:0.876:0.0	.	70	P55073	IOD3_HUMAN	N	70;96	ENSP00000352273:D70N;ENSP00000427336:D96N	ENSP00000352273:D96N	D	+	1	0	DIO3;AL049836.1	101097872	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.208000	0.72165	1.608000	0.50180	0.457000	0.33378	GAT		0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		53	268	0	0	0	1	0	53	268					A	102028119	G	A	102028119	3	1	20	1	0	0	0	0	1	0	0	0	4542	1058	37	1	288	1	DIO3	14	102028119	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	68736146	102028119	5321421	134	2529											
KIF26A	26153	broad.mit.edu	37	chr14	104618363	104618363	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcctcaggatccttgcctCtctgccctgcttctcgacaa	7	16	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:104618363C>A	ENST00000423312.2	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATCCTTGCCTCTCTGCCCTGC	0.672																																						ENST00000423312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(298-300)ctC>ctA		kinesin family member 26A							23	27	26					14																	104618363		2109	4140	6249	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104618363C>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.300C>A	14.37:g.104618363C>A						KIF26A_ENST00000315264.7_5'UTR	p.L100L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	3	300	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	100					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.300C>A	CCDS45171.1																																																																																				0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			55	172	1	0	2.01871e-26	1	2.17739e-26	55	172					A	104618363	C	A	104618363	2	1	20	1	0	0	0	0	0	0	0	1	8324	900	32	3		3	KIF26A	14	104618363	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	2590244	104618363	2731177	135	2530											
VPS39	23339	broad.mit.edu	37	chr15	42457994	42457994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcagagactccacttcCgggagatcttcagtaaatat	10	10	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:42457994C>T	ENST00000348544.4	-	18	1733	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	VPS39_ENST00000318006.5_Silent_p.P567P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1699-1701)ccG>ccA		vacuolar protein sorting 39 homolog (S. cerevisiae)							76	77	77					15																	42457994		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457994C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1734G>A	15.37:g.42457994C>T						VPS39_ENST00000348544.4_Silent_p.P578P	p.P567P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	17	1863	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	578					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1701G>A	CCDS10083.1																																																																																				0.473	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		4	286	0	0	0	1	0	4	286					T	42457994	C	T	42457994	2	4	20	1	0	0	0	0	0	0	0	1	17263	639	23	1		1	VPS39	15	42457994	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		42457994	60073398	136	2531											
TGM5	9333	broad.mit.edu	37	chr15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctccgtgtggtgccGcacattatttctggagctct	10	12	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(58-60)Cgg>Tgg		transglutaminase 5	L-Glutamine(DB00130)						110	113	112					15																	43552730		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552730G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.58C>T	15.37:g.43552730G>A	ENSP00000220420:p.Arg20Trp					TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	65	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	20					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.58C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741549	0.30865	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.85088	-1.94;-1.94	5.64	1.55	0.23275	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.143940	0.06194	N	0.681888	T	0.81616	0.4860	L	0.40543	1.245	0.09310	N	1	D;P	0.56287	0.975;0.903	B;P	0.47827	0.253;0.558	T	0.68070	-0.5506	10	0.72032	D	0.01	-1.8221	3.7194	0.08450	0.0758:0.2681:0.3804:0.2758	.	20;20	O43548-2;O43548	.;TGM5_HUMAN	W	20;20;19	ENSP00000220420:R20W;ENSP00000220419:R20W	ENSP00000220420:R20W	R	-	1	2	TGM5	41340022	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.060000	0.14342	0.040000	0.15660	0.555000	0.69702	CGG		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		59	452	0	0	0	1	0	59	452					A	43552730	G	A	43552730	3	1	20	1	0	0	0	0	1	0	0	0	15885	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1094736	43552730	58978662	137	2532											
MORF4L1	10933	broad.mit.edu	37	chr15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttatcagggagtatgCggttaatgaagttgtggcag	13	4	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(754-756)gCg>gTg		mortality factor 4 like 1							95	102	99					15																	79186408		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186408C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.755C>T	15.37:g.79186408C>T	ENSP00000331310:p.Ala252Val					MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V	p.A252V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			11	959	+			252			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.755C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761130	0.69763	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08458	3.09;3.09;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	D;D	0.67145	0.996;0.978	P;B	0.48840	0.592;0.366	T	0.20107	-1.0285	10	0.09590	T	0.72	-22.9863	15.8341	0.78787	0.0:1.0:0.0:0.0	.	213;252	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	238;213;252	ENSP00000368850:A238V;ENSP00000408880:A213V;ENSP00000331310:A252V	ENSP00000331310:A252V	A	+	2	0	MORF4L1	76973463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.604000	0.82830	2.123000	0.65237	0.650000	0.86243	GCG		0.333	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		7	508	0	0	0	1	0	7	508					T	79186408	C	T	79186408	3	4	20	1	0	0	0	0	1	0	0	0	9747	768	27	1	797	1	MORF4L1	15	79186408	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	35633678	79186408	23344984	138	2533											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84705713	84705713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaccaatttcctggcGgcactgtcttgggccctcct	9	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:84705713G>A	ENST00000286744.5	+	29	5167	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1648						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTTCCTGGCGGCACTGTCTT	0.527																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4942-4944)cGg>cAg		ADAMTS-like 3							87	79	82					15																	84705713		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84705713G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4943G>A	15.37:g.84705713G>A	ENSP00000286744:p.Arg1648Gln					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		29	5167	+			1648					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4943G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544751	0.13312	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	5.19	2.26	0.28386	.	1.096740	0.07323	N	0.878014	T	0.31888	0.0811	N	0.11364	0.135	0.27026	N	0.964354	B;B	0.21452	0.033;0.056	B;B	0.10450	0.005;0.002	T	0.22661	-1.0210	10	0.02654	T	1	.	7.0906	0.25282	0.4565:0.0:0.5435:0.0	.	1648;1648	P82987-2;P82987	.;ATL3_HUMAN	Q	1648	ENSP00000286744:R1648Q	ENSP00000286744:R1648Q	R	+	2	0	ADAMTSL3	82496717	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	1.780000	0.38634	0.701000	0.31803	0.655000	0.94253	CGG		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		47	163	0	0	0	1	0	47	163					A	84705713	G	A	84705713	3	1	20	1	0	0	0	0	1	0	0	0	276	1116	39	1	5053	1	ADAMTSL3	15	84705713	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5519305	84705713	17825679	139	2534											
DNASE1	1773	broad.mit.edu	37	chr16	3706107	3706107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcttcaatccagggatGcaccagacacctatcactac	6	13	3	1	rs140530129	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:3706107G>A	ENST00000246949.5	+	4	3450	c.241G>A	c.(241-243)Gca>Aca	p.A81T	DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		ATCCAGGGATGCACCAGACAC	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17749	0.0		0.0	False		,,,				2504	0.0					ENST00000246949.5																			0				lung(1)	1						c.(241-243)Gca>Aca		deoxyribonuclease I	Dornase Alfa(DB00003)						85	78	81					16																	3706107		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706107G>A		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.241G>A	16.37:g.3706107G>A	ENSP00000246949:p.Ala81Thr					DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T|DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I	p.A81T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3450	+		Ovarian(90;0.0261)	81					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.241G>A	CCDS10507.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.44|12.44	1.938101|1.938101	0.34189|0.34189	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.51071|0.40476	0.72;0.72|1.03	5.06|5.06	-0.503|-0.503	0.12000|0.12000	Endonuclease/exonuclease/phosphatase (2);|.	1.806170|.	0.02552|.	N|.	0.095796|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.12837|.	0.008|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|7	0.42905|0.87932	T|D	0.14|0	-7.8118|-7.8118	4.4516|4.4516	0.11623|0.11623	0.3473:0.0:0.4251:0.2276|0.3473:0.0:0.4251:0.2276	.|.	81|.	P24855|.	DNAS1_HUMAN|.	T|I	81|1	ENSP00000385905:A81T;ENSP00000246949:A81T|ENSP00000416699:M1I	ENSP00000246949:A81T|ENSP00000416699:M1I	A|M	+|+	1|3	0|0	DNASE1|DNASE1	3646108|3646108	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.075000|-0.075000	0.11431|0.11431	0.527000|0.527000	0.28560|0.28560	-0.291000|-0.291000	0.09656|0.09656	GCA|ATG		0.597	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			57	239	0	0	0	1	0	57	239					A	3706107	G	A	3706107	3	1	20	1	0	0	0	0	1	0	0	0	4676	1319	46	2	251	2	DNASE1	16	3706107	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		3706107	86648646	140	2535											
ABAT	18	broad.mit.edu	37	chr16	8858595	8858595	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctatttccctccccacagGtggctcccaaagggatgtcc	10	15	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:8858595G>T	ENST00000396600.2	+	8	1386	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	ABAT_ENST00000425191.2_Splice_Site_p.V150L|ABAT_ENST00000268251.8_Splice_Site_p.V150L|ABAT_ENST00000567812.1_Splice_Site_p.V165L|ABAT_ENST00000569156.1_Splice_Site_p.V150L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	150					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTCCCCACAGGTGGCTCCCAA	0.597																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.e8-1		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						116	93	101					16																	8858595		2197	4300	6497	SO:0001630	splice_region_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8858595G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.448-1G>T	16.37:g.8858595G>T						ABAT_ENST00000268251.8_Splice_Site_p.V150_splice|ABAT_ENST00000569156.1_Splice_Site_p.V150_splice|ABAT_ENST00000425191.2_Splice_Site_p.V150_splice|ABAT_ENST00000567812.1_Splice_Site_p.V165_splice	p.V150_splice	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			8	1386	+			150					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.447_splice	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754306	0.69648	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.74315	-0.83;-0.83;-0.83	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.057206	0.64402	D	0.000001	T	0.76485	0.3994	L	0.60455	1.87	0.80722	D	1	B	0.17268	0.021	B	0.35182	0.197	T	0.69964	-0.5002	9	.	.	.	-19.9755	18.7245	0.91710	0.0:0.0:1.0:0.0	.	150	P80404	GABT_HUMAN	L	150	ENSP00000268251:V150L;ENSP00000379845:V150L;ENSP00000411916:V150L	.	V	+	1	0	ABAT	8766096	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.063000	0.71162	2.661000	0.90470	0.650000	0.86243	GTG		0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	Missense_Mutation	8	275	1	0	0.0381472	1	0.0386163	8	275					T	8858595	G	T	8858595	5	4	20	1	0	0	0	0	0	0	1	0	27	1275	44	3	474	3	ABAT	16	8858595	Splice_Site	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5152488	8858595	81496158	141	2536											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1	rs190057031	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				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)			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						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				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						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	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.chr16:18937330T>C	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.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	58	0	0	0	1	0	6	58					C	18937330	T	C	18937330	3	2	20	1	0	0	0	0	1	0	0	0	14845	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	10078735	18937330	71417423	142	2537											
DNAH3	55567	broad.mit.edu	37	chr16	21080832	21080832	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctctgaactgaagatTggttccaggtacagccaggt	11	9	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:21080832T>A	ENST00000261383.3	-	23	3284	c.3285A>T	c.(3283-3285)ccA>ccT	p.P1095P	DNAH3_ENST00000415178.1_Silent_p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	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)			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)		AACTGAAGATTGGTTCCAGGT	0.433																																						ENST00000261383.3																			0				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						c.(3283-3285)ccA>ccT		dynein, axonemal, heavy chain 3							195	158	171					16																	21080832		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080832T>A	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.3285A>T	16.37:g.21080832T>A						DNAH3_ENST00000415178.1_Silent_p.P1095P	p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3284	-			1095			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3285A>T	CCDS10594.1																																																																																				0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	628	0	0	0	1	0	9	628					A	21080832	T	A	21080832	2	1	20	1	0	0	0	0	0	0	0	1	4619	1799	63	5		5	DNAH3	16	21080832	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	2143502	21080832	69273921	143	2538											
SETD1A	9739	broad.mit.edu	37	chr16	30977566	30977567	+	Frame_Shift_Del	DEL	AG	AG	-													ggcaagaccctcccgacagcAggcaccgtgggccgtgtgct							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:30977566_30977567delAG	ENST00000262519.8	+	8	3050_3051	c.2364_2365delAG	c.(2362-2367)gcaggcfs	p.G789fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	789					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGACAGCAGGCACCGTGGG	0.658																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2362-2367)gcgcfs		SET domain containing 1A																																				SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977566_30977567delAG	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2364_2365delAG	16.37:g.30977566_30977567delAG	ENSP00000262519:p.Gly789fs						p.AG788fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	3050_3051	+			788					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Del	DEL	ENST00000262519.8	37	c.2364_2365delAG	CCDS32435.1																																																																																				0.658	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		36	118						36	118	---	---	---	---	-	30977567	AG	-	30977566	7	5	20	1	0	1	0	1	0	0	0	0	14180	175	7	0	2390	0	SETD1A	16	30977566	Frame_Shift_Del	DEL	AG	TCGA-2L-AAQJ-01A-12D-A397-08	9896734	30977566	59377187	144	2539											
PRSS36	146547	broad.mit.edu	37	chr16	31152793	31152793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgagtgagacccacctgAggacacagtgagtggctgcc	14	11	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:31152793A>G	ENST00000268281.4	-	12	1956	c.1898T>C	c.(1897-1899)cTc>cCc	p.L633P	PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P|PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	633	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCACCTGAGGACACAGTG	0.547																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(1897-1899)cTc>cCc		protease, serine, 36							62	71	68					16																	31152793		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31152793A>G	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1898T>C	16.37:g.31152793A>G	ENSP00000268281:p.Leu633Pro					PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P|PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P	p.L633P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			12	1956	-			633			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1898T>C	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225929	0.58668	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88818	-2.43;-1.57	5.29	3.99	0.46301	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85435	0.5696	N	0.05554	-0.025	0.53005	D	0.999966	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.985;0.985	T	0.82182	-0.0584	9	0.27785	T	0.31	.	7.6216	0.28189	0.8891:0.0:0.1109:0.0	.	633;628;633	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	633	ENSP00000268281:L633P;ENSP00000407160:L633P	ENSP00000268281:L633P	L	-	2	0	PRSS36	31060294	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.959000	0.49153	1.996000	0.58369	0.374000	0.22700	CTC		0.547	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		6	463	0	0	0	1	0	6	463					G	31152793	A	G	31152793	3	3	20	1	0	0	0	0	1	0	0	0	12672	304	11	4	685	4	PRSS36	16	31152793	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	175227	31152793	59201960	145	2540											
ZNF423	23090	broad.mit.edu	37	chr16	49671084	49671084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggggcacgcttgcttcCgcagcagcagctccaggtgc	14	14	0	0	rs200218868		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:49671084C>T	ENST00000561648.1	-	4	2032	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTTCCGCAGCAGCAG	0.552																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1978-1980)cGg>cAg		zinc finger protein 423							47	47	47					16																	49671084		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671084C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1979G>A	16.37:g.49671084C>T	ENSP00000455426:p.Arg660Gln					ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q	p.R660Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2032	-		all_cancers(37;0.0155)	660					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1979G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225160	0.58668	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30714	1.52;1.52	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.42529	1.33	0.48830	D	0.999718	B	0.29862	0.259	B	0.23150	0.044	T	0.04454	-1.0950	9	.	.	.	.	18.0121	0.89227	0.0:1.0:0.0:0.0	.	660	Q2M1K9	ZN423_HUMAN	Q	660;543	ENSP00000262383:R660Q;ENSP00000442321:R543Q	.	R	-	2	0	ZNF423	48228585	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.679000	0.61649	2.250000	0.74265	0.462000	0.41574	CGG		0.552	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		37	174	0	0	0	1	0	37	174					T	49671084	C	T	49671084	3	4	20	1	0	0	0	0	1	0	0	0	17951	652	23	1	1895	1	ZNF423	16	49671084	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	18518291	49671084	40683669	146	2541											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	6	15	1	1	rs193920774		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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)	ENST00000420246.2		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"		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50	44	46					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>T	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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	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_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	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;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	43	0	0	0	1	0	14	43					T	7577141	C	T	7577141	3	4	20	1	0	0	0	0	1	0	0	0	16434	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		7577141	73618069	147	2542											
PIK3R5	23533	broad.mit.edu	37	chr17	8791989	8791989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggaagtcagcagatggcgcGagagggccggccccgaggcc	18	12	1	2	rs201413001		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:8791989G>C	ENST00000447110.1	-	10	1239	c.1115C>G	c.(1114-1116)tCg>tGg	p.S372W	PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	372					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGATGGCGCGAGAGGGCCGG	0.632																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1114-1116)tCg>tGg		phosphoinositide-3-kinase, regulatory subunit 5							63	67	65					17																	8791989		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791989G>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1115C>G	17.37:g.8791989G>C	ENSP00000392812:p.Ser372Trp					PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1239	-			372					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1115C>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	4.122	0.020770	0.08006	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.80304	-1.36	5.51	4.53	0.55603	.	0.440169	0.25296	N	0.031685	T	0.81664	0.4870	N	0.24115	0.695	0.48452	D	0.99965	D	0.61697	0.99	P	0.61275	0.886	D	0.84368	0.0542	10	0.87932	D	0	-10.1214	15.3433	0.74314	0.0:0.0:0.8589:0.141	.	372	Q8WYR1	PI3R5_HUMAN	W	372	ENSP00000392812:S372W	ENSP00000269300:S372W	S	-	2	0	PIK3R5	8732714	0.943000	0.32029	0.003000	0.11579	0.023000	0.10783	2.226000	0.42963	1.312000	0.45043	0.650000	0.86243	TCG		0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		18	119	0	0	0	1	0	18	119					C	8791989	G	C	8791989	3	2	20	1	0	0	0	0	1	0	0	0	11964	1059	37	5	1567	5	PIK3R5	17	8791989	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1214848	8791989	72403221	148	2543											
GAS7	8522	broad.mit.edu	37	chr17	9923188	9923189	+	Frame_Shift_Ins	INS	-	-	A													ccgtctggctttcttctcccINSggcggaggggggaccattcc					rs200563905		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:9923188_9923189insA	ENST00000432992.2	-	2	369_370	c.209_210insT	c.(208-210)ccgfs	p.P70fs	GAS7_ENST00000579158.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000396115.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000578655.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	70	Poly-Pro.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTCTTCTCCCGGCGGAGGGGG	0.54			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(28-30)cggfs		growth arrest-specific 7																																				SO:0001589	frameshift_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923188_9923189insA	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.209_210insT	17.37:g.9923188_9923189insA	ENSP00000407552:p.Pro70fs					GAS7_ENST00000579158.1_Frame_Shift_Ins_p.R22fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.R15fs|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000432992.2_Frame_Shift_Ins_p.R70fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.R6fs	p.R10fs	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			2	339_340	-			70			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Frame_Shift_Ins	INS	ENST00000432992.2	37	c.29_30insT	CCDS11152.1																																																																																				0.54	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		79	169						79	169	---	---	---	---	A	9923189	-	A	9923188	7	5	20	1	0	1	1	0	0	0	0	0	6278	639	23	0	1323	0	GAS7	17	9923188	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	1131199	9923188	71272022	149	2544											
MYO15A	51168	broad.mit.edu	37	chr17	18043920	18043920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcggctctacaaggcGcacactgtggccgccaagtt	11	14	2	0	rs371647200		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:18043920G>A	ENST00000205890.5	+	20	5639	c.5301G>A	c.(5299-5301)gcG>gcA	p.A1767A	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1767	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTACAAGGCGCACACTGTGG	0.662											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17663	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5299-5301)gcG>gcA		myosin XVA		G		1,3991		0,1,1995	66	77	73		5301	-8.4	0.3	17		73	1,8327		0,1,4163	no	coding-synonymous	MYO15A	NM_016239.3		0,2,6158	AA,AG,GG		0.012,0.0251,0.0162		1767/3531	18043920	2,12318	1996	4164	6160	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043920G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5301G>A	17.37:g.18043920G>A			OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.A1767A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			20	5639	+	all_neural(463;0.228)		1767			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5301G>A	CCDS42271.1																																																																																				0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	411	0	0	0	1	0	6	411					A	18043920	G	A	18043920	2	1	20	1	0	0	0	0	0	0	0	1	10104	1074	38	1		1	MYO15A	17	18043920	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	8120732	18043920	63151290	150	2545											
TIAF1	9220	broad.mit.edu	37	chr17	27401145	27401145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttaagaacctggacccGgctctcctcaccagcgtctc	7	16	4	1	rs151013388		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:27401145G>A	ENST00000359450.6	-	1	4730	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	25					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGGACCCGGCTCTCCTCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16598	0.001		0.0	False		,,,				2504	0.0					ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(73-75)Cgg>Tgg		TGFB1-induced anti-apoptotic factor 1		G	,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	56	56		,,73	-10.5	0	17	dbSNP_134	56	0,8600		0,0,4300	no	utr-3,utr-3,missense	TIAF1,MYO18A	NM_078471.3,NM_203318.1,NM_004740.3	,,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,25/116	27401145	1,13005	2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401145G>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.73C>T	17.37:g.27401145G>A	ENSP00000352424:p.Arg25Trp					MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR	p.R25W	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4730	-	Lung NSC(42;0.015)		25					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.73C>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014265	0.07959	2.27E-4	0.0	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.99	-10.5	0.00291	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42068	-0.9473	8	0.87932	D	0	.	9.1113	0.36730	0.3327:0.2671:0.4002:0.0	.	25	O95411	TIAF1_HUMAN	W	25	.	ENSP00000386130:R25W	R	-	1	2	TIAF1	24425271	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.869000	0.04232	-1.616000	0.01572	-1.595000	0.00837	CGG		0.592	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		39	248	0	0	0	1	0	39	248					A	27401145	G	A	27401145	3	1	20	1	0	0	0	0	1	0	0	0	15940	1115	39	1	278	1	TIAF1	17	27401145	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	9357225	27401145	53794065	151	2546											
AP2B1	163	broad.mit.edu	37	chr17	33954713	33954713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgttcgaaaagctgtgCgggccattggacggtgtgcc	14	9	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:33954713C>T	ENST00000262325.7	+	9	1676	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	375					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAAGCTGTGCGGGCCATTGG	0.438																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1123-1125)Cgg>Tgg		adaptor-related protein complex 2, beta 1 subunit							119	110	113					17																	33954713		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33954713C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1123C>T	17.37:g.33954713C>T	ENSP00000262325:p.Arg375Trp					AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W	p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	9	1676	+		Ovarian(249;0.17)	375					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1123C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483673	0.63962	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.74	2.04	0.26737	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.996	T	0.77787	-0.2457	10	0.87932	D	0	-0.402	14.3775	0.66889	0.4861:0.5139:0.0:0.0	.	112;337;375;375	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	W	375;375;318;375;112	ENSP00000262325:R375W;ENSP00000314414:R375W;ENSP00000440563:R318W;ENSP00000437413:R375W	ENSP00000262325:R375W	R	+	1	2	AP2B1	30978826	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.241000	0.32743	0.128000	0.18479	-1.036000	0.02392	CGG		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	278	0	0	0	1	0	4	278					T	33954713	C	T	33954713	3	4	20	1	0	0	0	0	1	0	0	0	741	759	27	1	1153	1	AP2B1	17	33954713	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	6553568	33954713	47240497	152	2547											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	12	14	1	2	rs149195822		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000394204.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622																																						ENST00000309156.4																			1	Substitution - Missense(1)	p.R435H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1303-1305)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	103	108	106		1304,1373,1304,1304	4.2	1	17	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	435/533,458/556,435/533,435/533	37902199	2,13004	2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902199G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1304G>A	17.37:g.37902199G>A	ENSP00000310771:p.Arg435His					GRB7_ENST00000394204.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron	p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1561	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		435			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1304G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338073	0.41398	4.54E-4	0.0	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.21	4.24	0.50183	SH2 motif (5);	0.106801	0.64402	D	0.000004	D	0.84844	0.5562	L	0.48935	1.535	0.80722	D	1	B	0.20261	0.043	B	0.25987	0.065	T	0.80926	-0.1164	10	0.51188	T	0.08	-21.3321	9.6741	0.40030	0.1692:0.0:0.8308:0.0	.	435	Q14451	GRB7_HUMAN	H	435;435;435;458	ENSP00000310771:R435H;ENSP00000377761:R435H;ENSP00000377759:R435H;ENSP00000403459:R458H	ENSP00000310771:R435H	R	+	2	0	GRB7	35155725	0.990000	0.36364	0.998000	0.56505	0.072000	0.16883	4.130000	0.57964	1.200000	0.43188	0.655000	0.94253	CGC		0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		9	1011	0	0	0	1	0	9	1011					A	37902199	G	A	37902199	3	1	20	1	0	0	0	0	1	0	0	0	6789	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3947486	37902199	43293011	153	2548											
BECN1	8678	broad.mit.edu	37	chr17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttatccagctgcgtctggGcataacgcatctggttttca	10	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(769-771)gCc>gTc		beclin 1, autophagy related							241	204	216					17																	40967986		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967986G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.770C>T	17.37:g.40967986G>A	ENSP00000355231:p.Ala257Val					BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	902	-		Breast(137;0.00104)	257					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.770C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830695	0.50845	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.55	5.95	5.95	0.96441	.	0.171847	0.52532	D	0.000064	T	0.34978	0.0916	L	0.33339	1.005	0.58432	D	0.999994	B;B	0.32188	0.359;0.024	B;B	0.29663	0.105;0.094	T	0.07083	-1.0791	10	0.18710	T	0.47	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	181;257	E7EV84;Q14457	.;BECN1_HUMAN	V	257;181;170	ENSP00000355231:A257V;ENSP00000416173:A181V	ENSP00000355231:A257V	A	-	2	0	BECN1	38221512	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.847000	0.75404	2.824000	0.97209	0.655000	0.94253	GCC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		7	376	0	0	0	1	0	7	376					A	40967986	G	A	40967986	3	1	20	1	0	0	0	0	1	0	0	0	1397	1203	42	2	602	2	BECN1	17	40967986	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3065787	40967986	40227224	154	2549											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	379						8	379	---	---	---	---	-	62291440	TCC	-	62291438	7	5	20	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-2L-AAQJ-01A-12D-A397-08	21323452	62291438	18903772	155	2550											
AMZ2	51321	broad.mit.edu	37	chr17	66253070	66253070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctttaaggaatggaAagagtggataataaaatgcc	12	4	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:66253070A>C	ENST00000359904.3	+	7	2175	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ARSG_ENST00000448504.2_5'Flank|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	348							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAATGGAAAGAGTGGATA	0.398																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1042-1044)aAa>aCa		archaelysin family metallopeptidase 2							97	93	95					17																	66253070		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66253070A>C	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.1043A>C	17.37:g.66253070A>C	ENSP00000352976:p.Lys348Thr					AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR	p.K348T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2175	+	all_cancers(12;1.12e-09)		348					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.1043A>C	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	A	6.893	0.534347	0.13188	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.33865	1.39;1.39;1.39	3.42	-3.74	0.04385	.	0.527164	0.15835	N	0.242322	T	0.28928	0.0718	L	0.54323	1.7	0.40767	D	0.983057	B;B	0.32245	0.181;0.361	B;B	0.31686	0.134;0.134	T	0.06110	-1.0845	10	0.51188	T	0.08	-21.1054	10.9082	0.47092	0.2793:0.0:0.7207:0.0	.	290;348	A6NLD9;Q86W34	.;AMZ2_HUMAN	T	348;290;348	ENSP00000352976:K348T;ENSP00000352831:K290T;ENSP00000376481:K348T	ENSP00000352831:K290T	K	+	2	0	AMZ2	63764665	0.719000	0.27986	0.392000	0.26245	0.101000	0.19017	0.235000	0.17948	-0.834000	0.04239	-0.353000	0.07706	AAA		0.398	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		57	417	0	0	0	1	0	57	417					C	66253070	A	C	66253070	3	2	20	1	0	0	0	0	1	0	0	0	597	14	1	4	1065	4	AMZ2	17	66253070	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	3961632	66253070	14942140	156	2551											
GPR142	350383	broad.mit.edu	37	chr17	72363648	72363648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcgttgttagcaatgAgtattatgatgttgcccatg	10	8	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:72363648A>T	ENST00000335666.4	+	1	52	c.4A>T	c.(4-6)Agt>Tgt	p.S2C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	2						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTTAGCAATGAGTATTATGAT	0.527																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(4-6)Agt>Tgt		G protein-coupled receptor 142							116	109	112					17																	72363648		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363648A>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.4A>T	17.37:g.72363648A>T	ENSP00000335158:p.Ser2Cys						p.S2C	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			1	52	+			2					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.4A>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417868	0.25552	.	.	ENSG00000257008	ENST00000335666	T	0.71817	-0.6	2.61	1.45	0.22620	.	.	.	.	.	T	0.46776	0.1410	N	0.08118	0	0.27124	N	0.962078	P	0.51653	0.947	B	0.40741	0.339	T	0.42032	-0.9475	9	0.87932	D	0	.	6.1442	0.20276	0.773:0.0:0.0:0.227	.	2	Q7Z601	GP142_HUMAN	C	2	ENSP00000335158:S2C	ENSP00000335158:S2C	S	+	1	0	GPR142	69875243	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	4.243000	0.58721	0.062000	0.16340	-0.343000	0.07986	AGT		0.527	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		50	324	0	0	0	1	0	50	324					T	72363648	A	T	72363648	3	4	20	1	0	0	0	0	1	0	0	0	6679	304	11	5	6	5	GPR142	17	72363648	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	6110578	72363648	8831562	157	2552											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-													ttggacacttgggggatgggAaaaaaaatggatctggatgg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77	78	78		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	490						8	490	---	---	---	---	-	76046980	A	-	76046980	7	5	20	1	0	1	0	1	0	0	0	0	16394	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-2L-AAQJ-01A-12D-A397-08	3683332	76046980	5148230	158	2553											
AFMID	125061	broad.mit.edu	37	chr17	76187132	76187132	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacctactcacagataGgaattgaaggtactagtgtg	12	6	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76187132G>T	ENST00000586731.1	+	2	115	c.94G>T	c.(94-96)Gga>Tga	p.G32*	AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000409257.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTCACAGATAGGAATTGAAGG	0.557																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(145-147)Gga>Tga		arylformamidase							144	100	115					17																	76187132		2203	4300	6503	SO:0001587	stop_gained	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187132G>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.94G>T	17.37:g.76187132G>T	ENSP00000466241:p.Gly32*					AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000586731.1_Nonsense_Mutation_p.G32*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*	p.G49*	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	199	+			49						Nonsense_Mutation	SNP	ENST00000586731.1	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.309732	0.95629	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.9	3.86	0.44501	.	0.483859	0.21363	N	0.075763	.	.	.	.	.	.	0.38453	D	0.947022	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.3045	4.8598	0.13577	0.1436:0.2108:0.6456:0.0	.	.	.	.	X	49	.	ENSP00000328938:G49X	G	+	1	0	AFMID	73698727	0.755000	0.28372	0.050000	0.19076	0.691000	0.40173	1.557000	0.36299	2.224000	0.72417	0.609000	0.83330	GGA		0.557	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	XM_058889		6	184	1	0	0.00198382	1	0.00201647	6	184					T	76187132	G	T	76187132	4	4	20	1	0	0	0	0	0	1	0	0	362	1001	35	3	151	3	AFMID	17	76187132	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	140152	76187132	5008078	159	2554											
BAHCC1	57597	broad.mit.edu	37	chr17	79412086	79412086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccccccatgtacggggGccggggccccgcctctcaca	14	18	1	0	rs553180909		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:79412086G>A	ENST00000307745.7	+	13	2717	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D																								ATGTACGGGGGCCGGGGCCCC	0.706																																						ENST00000307745.7																			0											c.(2716-2718)gGc>gAc									6	7	7					17																	79412086		1924	4058	5982	SO:0001583	missense	0							g.chr17:79412086G>A																												ENST00000307745.7:c.2717G>A	17.37:g.79412086G>A	ENSP00000303486:p.Gly906Asp						p.G906D							13	2717	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2717G>A		.	.	.	.	.	.	.	.	.	.	G	15.70	2.910760	0.52439	.	.	ENSG00000171282	ENST00000307745	T	0.15603	2.41	4.41	2.27	0.28462	.	0.556047	0.14981	N	0.287278	T	0.21103	0.0508	L	0.59436	1.845	0.25576	N	0.98684	P;P	0.44429	0.808;0.835	B;B	0.41894	0.231;0.369	T	0.06789	-1.0807	10	0.72032	D	0.01	.	13.4604	0.61223	0.0:0.313:0.687:0.0	.	906;906	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	906	ENSP00000303486:G906D	ENSP00000303486:G906D	G	+	2	0	AC110285.1	77026681	0.917000	0.31117	0.997000	0.53966	0.907000	0.53573	1.436000	0.34980	0.400000	0.25396	0.430000	0.28490	GGC		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				32	56	0	0	0	1	0	32	56					A	79412086	G	A	79412086	3	1	20	1	0	0	0	0	1	0	0	0	1297	1203	42	2	2582	2	BAHCC1	17	79412086	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3224954	79412086	1783124	160	2555											
DLGAP1	9229	broad.mit.edu	37	chr18	3879329	3879329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggaggccttcaccGcctgctcgctgatggtgttg	14	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:3879329G>A	ENST00000315677.3	-	4	1335	c.740C>T	c.(739-741)gCg>gTg	p.A247V	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	247					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCCTTCACCGCCTGCTCGCT	0.657																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(739-741)gCg>gTg		discs, large (Drosophila) homolog-associated protein 1							62	62	62					18																	3879329		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879329G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.740C>T	18.37:g.3879329G>A	ENSP00000316377:p.Ala247Val					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V	p.A247V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1335	-		Colorectal(8;0.0257)	247					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.740C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688161	0.68271	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.16597	2.33;2.33	5.51	5.51	0.81932	.	0.118257	0.64402	D	0.000017	T	0.16642	0.0400	L	0.40543	1.245	0.53688	D	0.999975	B;P;B	0.40931	0.384;0.733;0.181	B;B;B	0.33339	0.038;0.162;0.069	T	0.01993	-1.1233	10	0.62326	D	0.03	-12.462	19.4162	0.94700	0.0:0.0:1.0:0.0	.	247;247;247	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	V	247	ENSP00000316377:A247V;ENSP00000445973:A247V	ENSP00000316377:A247V	A	-	2	0	DLGAP1	3869329	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.431000	0.80335	2.605000	0.88082	0.655000	0.94253	GCG		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			68	258	0	0	0	1	0	68	258					A	3879329	G	A	3879329	3	1	20	1	0	0	0	0	1	0	0	0	4575	1087	38	1	2288	1	DLGAP1	18	3879329	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		3879329	74197919	161	2556											
SETBP1	26040	broad.mit.edu	37	chr18	42530405	42530405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgacaatacagaagGgaaaagggaaggttattccg	12	5	0	2	rs367742803		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:42530405G>A	ENST00000282030.5	+	4	1396	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		AATACAGAAGGGAAAAGGGAA	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				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						c.(1099-1101)gGg>gAg		SET binding protein 1							65	65	65					18																	42530405		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530405G>A	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.1100G>A	18.37:g.42530405G>A	ENSP00000282030:p.Gly367Glu						p.G367E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1396	+			367					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1100G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702158	0.48307	.	.	ENSG00000152217	ENST00000282030	T	0.37058	1.22	5.78	5.78	0.91487	.	0.166529	0.53938	D	0.000041	T	0.31358	0.0794	L	0.27053	0.805	0.36681	D	0.87903	P	0.38597	0.639	B	0.35655	0.207	T	0.34551	-0.9824	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	367	Q9Y6X0	SETBP_HUMAN	E	367	ENSP00000282030:G367E	ENSP00000282030:G367E	G	+	2	0	SETBP1	40784403	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.539000	0.53604	2.894000	0.99253	0.655000	0.94253	GGG		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		61	173	0	0	0	1	0	61	173					A	42530405	G	A	42530405	3	1	20	1	0	0	0	0	1	0	0	0	14179	1232	43	2	1303	2	SETBP1	18	42530405	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	38651076	42530405	35546843	162	2557											
MBD2	8932	broad.mit.edu	37	chr18	51691000	51691000	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacttgccctgtgattggCgcagagcttgtgtgcaaagc	14	9	0	3	rs375244494		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:51691000C>A	ENST00000256429.3	-	5	1230	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	334					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CTGTGATTGGCGCAGAGCTTG	0.473																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1000-1002)gcG>gcT		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						112	97	102					18																	51691000		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51691000C>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1002G>T	18.37:g.51691000C>A							p.A334A	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	5	1230	-			334					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1002G>T	CCDS11953.1																																																																																				0.473	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		4	216	1	0	1	1	1	4	216					A	51691000	C	A	51691000	2	1	20	1	0	0	0	0	0	0	0	1	9384	755	27	3		3	MBD2	18	51691000	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	9160595	51691000	26386248	163	2558											
PTPRS	5802	broad.mit.edu	37	chr19	5244288	5244288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccgacacccagatctcGtactccgagttggggctcag	12	14	2	1	rs144956737		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:5244288G>A	ENST00000587303.1	-	10	1293	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000372412.4_Silent_p.Y399Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	398	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCCAGATCTCGTACTCCGAGT	0.637																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1195-1197)taC>taT		protein tyrosine phosphatase, receptor type, S		G	,,,	1,4405	2.1+/-5.4	0,1,2202	69	58	62		1194,1155,1155,1167	-4.9	0.9	19	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	398/1949,385/1502,385/1911,389/1506	5244288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244288G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1194C>T	19.37:g.5244288G>A						PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000587303.1_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y	p.Y399Y			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1430	-			398			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.1197C>T	CCDS45930.1																																																																																				0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			63	204	0	0	0	1	0	63	204					A	5244288	G	A	5244288	2	1	20	1	0	0	0	0	0	0	0	1	12861	1140	40	1		1	PTPRS	19	5244288	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		5244288	53884695	164	2559											
AKAP8L	26993	broad.mit.edu	37	chr19	15512085	15512085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcatgccctggaacatgCcgtactcggggatgatgttc	12	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:15512085C>T	ENST00000397410.5	-	5	822	c.692G>A	c.(691-693)gGc>gAc	p.G231D	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G170D|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	231						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGAACATGCCGTACTCGGG	0.657																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(691-693)gGc>gAc		A kinase (PRKA) anchor protein 8-like							67	78	75					19																	15512085		1953	4150	6103	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512085C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.692G>A	19.37:g.15512085C>T	ENSP00000380557:p.Gly231Asp					AKAP8L_ENST00000595465.1_Missense_Mutation_p.G170D|AKAP8L_ENST00000595136.1_5'UTR	p.G231D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	756	-			231					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.692G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614850	0.46631	.	.	ENSG00000011243	ENST00000397410	T	0.58797	0.31	4.78	4.78	0.61160	.	0.279153	0.33401	N	0.004959	T	0.51312	0.1667	L	0.49778	1.585	0.37846	D	0.929235	B;B;B;B	0.32245	0.111;0.361;0.357;0.111	B;B;B;B	0.36289	0.053;0.176;0.221;0.053	T	0.57112	-0.7867	10	0.41790	T	0.15	-7.0541	9.0984	0.36653	0.0:0.8992:0.0:0.1008	.	170;1;231;231	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	D	231	ENSP00000380557:G231D	ENSP00000380557:G231D	G	-	2	0	AKAP8L	15373085	0.996000	0.38824	0.985000	0.45067	0.927000	0.56198	3.418000	0.52721	2.206000	0.71126	0.591000	0.81541	GGC		0.657	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		6	598	0	0	0	1	0	6	598					T	15512085	C	T	15512085	3	4	20	1	0	0	0	0	1	0	0	0	458	739	26	2	1288	2	AKAP8L	19	15512085	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	10267797	15512085	43616898	165	2560											
GPI	2821	broad.mit.edu	37	chr19	34884838	34884838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcacttccgcacgaCgcccctggagaagaacgccc	11	17	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:34884838C>T	ENST00000356487.5	+	12	1170	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000415930.3_Missense_Mutation_p.T321M	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	310					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCCGCACGACGCCCCTGGAG	0.627																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(961-963)aCg>aTg		glucose-6-phosphate isomerase							128	127	127					19																	34884838		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884838C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.929C>T	19.37:g.34884838C>T	ENSP00000348877:p.Thr310Met					GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000356487.5_Missense_Mutation_p.T310M	p.T321M	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			12	1132	+	Esophageal squamous(110;0.162)		310					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.962C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394367	0.42410	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93763	-3.28;-3.28	5.65	4.6	0.57074	.	0.386357	0.32868	N	0.005554	D	0.96030	0.8707	M	0.75085	2.285	0.44454	D	0.997381	B;D;B;B	0.56746	0.05;0.977;0.299;0.286	B;D;B;B	0.64144	0.094;0.922;0.094;0.157	D	0.96395	0.9292	10	0.72032	D	0.01	-0.4064	15.9577	0.79898	0.1361:0.8639:0.0:0.0	.	282;321;283;310	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	M	321;310	ENSP00000405573:T321M;ENSP00000348877:T310M	ENSP00000348877:T310M	T	+	2	0	GPI	39576678	0.815000	0.29118	0.084000	0.20598	0.007000	0.05969	7.487000	0.81328	1.371000	0.46172	-0.188000	0.12872	ACG		0.627	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			146	634	0	0	0	1	0	146	634					T	34884838	C	T	34884838	3	4	20	1	0	0	0	0	1	0	0	0	6640	536	19	1	1096	1	GPI	19	34884838	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	19372753	34884838	24244145	166	2561											
HPN	3249	broad.mit.edu	37	chr19	35556925	35556925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acttccgggagtggatcttcCaggccataaaggtgaaagtt	12	8	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:35556925C>G	ENST00000262626.2	+	12	2029	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E|HPN_ENST00000392226.1_Missense_Mutation_p.Q402E	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	402	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTGGATCTTCCAGGCCATAAA	0.562																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1204-1206)Cag>Gag		hepsin	Coagulation factor VIIa(DB00036)						96	104	101					19																	35556925		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556925C>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1204C>G	19.37:g.35556925C>G	ENSP00000262626:p.Gln402Glu					HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E	p.Q402E	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	2029	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		402			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1204C>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570793	0.28003	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.87887	-2.31;-2.31	4.86	3.81	0.43845	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.194075	0.40908	D	0.000999	T	0.62575	0.2439	N	0.01656	-0.775	0.80722	D	1	B;B;B	0.23249	0.024;0.067;0.082	B;B;B	0.13407	0.003;0.006;0.009	T	0.62558	-0.6829	10	0.02654	T	1	.	10.3731	0.44066	0.3539:0.6461:0.0:0.0	.	374;402;402	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	E	402;402;374	ENSP00000262626:Q402E;ENSP00000376060:Q402E	ENSP00000262626:Q402E	Q	+	1	0	HPN	40248765	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	1.161000	0.31773	1.252000	0.44001	0.455000	0.32223	CAG		0.562	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		11	613	0	0	0	1	0	11	613					G	35556925	C	G	35556925	3	3	20	1	0	0	0	0	1	0	0	0	7366	595	21	5	1246	5	HPN	19	35556925	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	672087	35556925	23572058	167	2562											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914871	39914871	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgttctgatttcacagtttCagtcaccacccctgtgccca	6	14	4	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:39914871C>G	ENST00000409794.3	+	19	3948	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.S1004*|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(3010-3012)tCa>tGa		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							126	115	119					19																	39914871		2203	4300	6503	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914871C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3098C>G	19.37:g.39914871C>G	ENSP00000386733:p.Ser1033*					PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.S1033*|PLEKHG2_ENST00000378550.1_Intron	p.S1004*			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	3336	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1033					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.3011C>G	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.087494|6.087494	0.97271|0.97271	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|.	.|.	.|.	3.08|3.08	-3.41|-3.41	0.04839|0.04839	.|.	.|1.788450	.|0.03467	.|N	.|0.213043	T|.	0.31513|.	0.0799|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26538|.	-1.0100|.	4|.	.|0.28530	.|T	.|0.3	.|.	9.007|9.007	0.36117|0.36117	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	.|.	.|.	.|.	E|X	901|1033;1004;974	.|.	.|ENSP00000386733:S1033X	Q|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44606711|44606711	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.725000|0.725000	0.41563|0.41563	-0.142000|-0.142000	0.10311|0.10311	-0.739000|-0.739000	0.04809|0.04809	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		69	286	0	0	0	1	0	69	286					G	39914871	C	G	39914871	4	3	20	1	0	0	0	0	0	1	0	0	12111	838	29	5	3168	5	PLEKHG2	19	39914871	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	4357946	39914871	19214112	168	2563											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		8	577						8	577	---	---	---	---	-	42753151	GAA	-	42753149	7	5	20	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-2L-AAQJ-01A-12D-A397-08	2838278	42753149	16375834	169	2564											
PSG6	5675	broad.mit.edu	37	chr19	43411814	43411814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtttcatttctcGtgacactgggtagaatgagt	12	7	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:43411814G>A	ENST00000292125.2	-	4	943	c.899C>T	c.(898-900)aCg>aTg	p.T300M	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.T300M	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	300	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				TTCATTTCTCGTGACACTGGG	0.488																																						ENST00000187910.2																			0				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						c.(898-900)aCg>aTg		pregnancy specific beta-1-glycoprotein 6							191	184	187					19																	43411814		2201	4295	6496	SO:0001583	missense	5675							g.chr19:43411814G>A		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.899C>T	19.37:g.43411814G>A	ENSP00000292125:p.Thr300Met					PSG6_ENST00000292125.2_Missense_Mutation_p.T300M|PSG6_ENST00000402603.4_Intron	p.T300M	NM_001031850.3	NP_001027020.1					4	964	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.899C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	8.993	0.978199	0.18812	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.15603	2.41;2.41	1.42	-0.067	0.13762	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30665	0.0772	H	0.95745	3.715	0.09310	N	0.999998	B;P	0.39520	0.331;0.676	B;B	0.40864	0.146;0.342	T	0.33523	-0.9865	9	0.72032	D	0.01	.	4.8586	0.13571	0.0:0.397:0.603:0.0	.	300;300	Q00889;Q00889-2	PSG6_HUMAN;.	M	300	ENSP00000187910:T300M;ENSP00000292125:T300M	ENSP00000187910:T300M	T	-	2	0	PSG6	48103654	0.000000	0.05858	0.347000	0.25668	0.098000	0.18820	-0.625000	0.05534	0.792000	0.33850	0.134000	0.15878	ACG		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		199	648	0	0	0	1	0	199	648					A	43411814	G	A	43411814	3	1	20	1	0	0	0	0	1	0	0	0	12706	1145	40	1	459	1	PSG6	19	43411814	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	658665	43411814	15717169	170	2565											
FPR2	2358	broad.mit.edu	37	chr19	52272706	52272706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgcccttctgggcacCgtctggctcaaagagatgtt	12	11	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:52272706C>T	ENST00000598776.1	+	2	1567	c.795C>T	c.(793-795)acC>acT	p.T265T	FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	265					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCTGGGCACCGTCTGGCTCA	0.502																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(793-795)acC>acT		formyl peptide receptor 2							125	106	112					19																	52272706		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272706C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.795C>T	19.37:g.52272706C>T						FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1567	+			265					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.795C>T	CCDS12840.1																																																																																				0.502	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		45	160	0	0	0	1	0	45	160					T	52272706	C	T	52272706	2	4	20	1	0	0	0	0	0	0	0	1	6066	639	23	1		1	FPR2	19	52272706	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	8860892	52272706	6856277	171	2566											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	800	0	0	0	1	0	9	800					A	53644386	T	A	53644386	2	1	20	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	1371680	53644386	5484597	172	2567											
ZNF835	90485	broad.mit.edu	37	chr19	57175831	57175831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcgtagggcttctcacCggtgtggatgcgctggtgct	15	11	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:57175831C>T	ENST00000537055.2	-	2	967	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	246					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCACCGGTGTGGATG	0.692																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(736-738)Ggt>Agt		zinc finger protein 835							40	39	39					19																	57175831		2203	4299	6502	SO:0001583	missense	90485							g.chr19:57175831C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.736G>A	19.37:g.57175831C>T	ENSP00000444747:p.Gly246Ser						p.G246S	NM_001005850.2	NP_001005850.2					2	967	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.736G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267381	0.95399	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25085	1.82	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.43152	1.355	0.31918	N	0.61385	D	0.89917	1.0	D	0.83275	0.996	T	0.46857	-0.9161	9	0.87932	D	0	.	10.2869	0.43573	0.0:1.0:0.0:0.0	.	268	Q9Y2P0	ZN835_HUMAN	S	268;246	ENSP00000444747:G246S	ENSP00000341756:G268S	G	-	1	0	ZNF835	61867643	0.002000	0.14202	0.005000	0.12908	0.717000	0.41224	1.681000	0.37618	1.506000	0.48736	0.561000	0.74099	GGT		0.692	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		16	122	0	0	0	1	0	16	122					T	57175831	C	T	57175831	3	4	20	1	0	0	0	0	1	0	0	0	18239	652	23	1	879	1	ZNF835	19	57175831	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3531445	57175831	1953152	173	2568											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673686	3673686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgagggccagctgggCgggcgggcggctgtccacag	21	11	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:3673686C>T	ENST00000344754.4	-	14	3600	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1201	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGCTGGGCGGGCGGGCGG	0.721																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3601-3603)Gcc>Acc		sialic acid binding Ig-like lectin 1, sialoadhesin							11	15	14					20																	3673686		2156	4245	6401	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673686C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "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"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3601G>A	20.37:g.3673686C>T	ENSP00000341141:p.Ala1201Thr					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3600	-			1201			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3601G>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.443368|3.443368	0.63067|0.63067	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.75154|.	-0.91;-0.91|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.39615|.	N|.	0.001309|.	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.78223|0.78223	2.4|2.4	0.36727|0.36727	D|D	0.88151|0.88151	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.966|.	T|T	0.79339|0.79339	-0.1844|-0.1844	10|5	0.30078|.	T|.	0.28|.	.|.	13.088|13.088	0.59153|0.59153	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1201;1201|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	T|H	1201|14	ENSP00000341141:A1201T;ENSP00000202578:A1201T|.	ENSP00000202578:A1201T|.	A|R	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621686|3621686	0.045000|0.045000	0.20229|0.20229	0.979000|0.979000	0.43373|0.43373	0.294000|0.294000	0.27393|0.27393	0.222000|0.222000	0.17699|0.17699	2.477000|2.477000	0.83638|0.83638	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.721	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		48	103	0	0	0	1	0	48	103					T	3673686	C	T	3673686	3	4	20	1	0	0	0	0	1	0	0	0	14355	768	27	1	1560	1	SIGLEC1	20	3673686	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		3673686	59351834	174	2569											
PAX1	5075	broad.mit.edu	37	chr20	21687445	21687445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggtgagctccatcagccGcatcctgcgcaacaagatcg	10	14	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:21687445G>A	ENST00000398485.2	+	2	710	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	219	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R125L(1)|p.R219L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCATCAGCCGCATCCTGCGC	0.632																																						ENST00000398485.2																			2	Substitution - Missense(2)	p.R125L(1)|p.R219L(1)	lung(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(655-657)cGc>cAc		paired box 1							53	58	56					20																	21687445		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687445G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.656G>A	20.37:g.21687445G>A	ENSP00000381499:p.Arg219His					PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	p.R219H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	710	+			219			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.656G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891242	0.72524	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99674	-6.36;-6.36	5.33	5.33	0.75918	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.97675	1.0169	10	0.87932	D	0	.	18.6396	0.91390	0.0:0.0:1.0:0.0	.	195;125;219	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	H	219;195	ENSP00000381499:R219H;ENSP00000410355:R195H	ENSP00000381499:R219H	R	+	2	0	PAX1	21635445	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.602000	0.98312	2.492000	0.84095	0.563000	0.77884	CGC		0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			6	548	0	0	0	1	0	6	548					A	21687445	G	A	21687445	3	1	20	1	0	0	0	0	1	0	0	0	11520	1087	38	1	662	1	PAX1	20	21687445	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	18013759	21687445	41338075	175	2570											
FOXA2	3170	broad.mit.edu	37	chr20	22562673	22562675	+	In_Frame_Del	DEL	GTT	GTT	-													cttgaggtccattttgtgggGttggtggtggtggtggctgt					rs1212275|rs369254349|rs553430638	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:22562673_22562675delGTT	ENST00000377115.4	-	3	1368_1370	c.1187_1189delAAC	c.(1186-1191)caaccc>ccc	p.Q396del	FOXA2_ENST00000419308.2_In_Frame_Del_p.Q402del	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	396	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ATTTTGTGGGGTtggtggtggtg	0.601																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1186-1191)ccc>c		forkhead box A2																																				SO:0001651	inframe_deletion	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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.chr20:22562673_22562675delGTT	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1187_1189delAAC	20.37:g.22562673_22562675delGTT	ENSP00000366319:p.Gln396del					FOXA2_ENST00000319993.4_In_Frame_Del_p.QP402del|FOXA2_ENST00000377115.4_In_Frame_Del_p.QP396del	p.QP396del	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1389_1391	-	Lung NSC(19;0.188)		396			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	In_Frame_Del	DEL	ENST00000377115.4	37	c.1187_1189delAAC	CCDS13147.1																																																																																				0.601	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			7	428						7	428	---	---	---	---	-	22562675	GTT	-	22562673	7	5	20	1	0	1	0	1	0	0	0	0	6015	1261	44	0	188	0	FOXA2	20	22562673	In_Frame_Del	DEL	GTT	TCGA-2L-AAQJ-01A-12D-A397-08	875228	22562673	40462847	176	2571											
RBM12	10137	broad.mit.edu	37	chr20	34240896	34240896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccccctccaaatccCgatggcccacttaaattgtt	8	14	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:34240896C>T	ENST00000374114.3	-	3	2612	c.2349G>A	c.(2347-2349)tcG>tcA	p.S783S	CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	783	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTCCAAATCCCGATGGCCCAC	0.562																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2347-2349)tcG>tcA		RNA binding motif protein 12							39	43	42					20																	34240896		2198	4293	6491	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240896C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2349G>A	20.37:g.34240896C>T						CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron	p.S783S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2612	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		783			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2349G>A	CCDS13261.1																																																																																				0.562	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		79	246	0	0	0	1	0	79	246					T	34240896	C	T	34240896	2	4	20	1	0	0	0	0	0	0	0	1	13163	639	23	1		1	RBM12	20	34240896	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	11678223	34240896	28784624	177	2572											
DIDO1	11083	broad.mit.edu	37	chr20	61512959	61512959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagttccttctcacgtcgGcacacatcctgttgggcagg	12	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:61512959G>A	ENST00000266070.4	-	16	4674	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1450					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCACGTCGGCACACATCCT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4348-4350)gCc>gTc		death inducer-obliterator 1							80	87	85					20																	61512959		2203	4298	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512959G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4349C>T	20.37:g.61512959G>A	ENSP00000266070:p.Ala1450Val					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4674	-	Breast(26;5.68e-08)		1450					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4349C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200577	0.38905	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.43	2.4	0.29515	.	0.597682	0.13711	N	0.368135	T	0.07818	0.0196	L	0.33485	1.01	0.18873	N	0.999986	B	0.12630	0.006	B	0.15052	0.012	T	0.27606	-1.0069	10	0.54805	T	0.06	-3.6696	10.9846	0.47514	0.2062:0.0:0.7938:0.0	.	1450	Q9BTC0	DIDO1_HUMAN	V	1450	ENSP00000266070:A1450V;ENSP00000378752:A1450V	ENSP00000266070:A1450V	A	-	2	0	DIDO1	60983404	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.819000	0.27308	0.671000	0.31185	0.655000	0.94253	GCC		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	529	0	0	0	1	0	6	529					A	61512959	G	A	61512959	3	1	20	1	0	0	0	0	1	0	0	0	4538	1203	42	2	2377	2	DIDO1	20	61512959	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	27272063	61512959	1512561	178	2573											
ADARB1	104	broad.mit.edu	37	chr21	46596475	46596475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaagcttgccaaggccCgggctgcgcagtctgccctg	13	14	1	1	rs142476560		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:46596475C>T	ENST00000360697.3	+	2	874	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000539173.1_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	287	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCAAGGCCCGGGCTGCGCA	0.572																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(859-861)Cgg>Tgg		adenosine deaminase, RNA-specific, B1							52	56	55					21																	46596475		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596475C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.859C>T	21.37:g.46596475C>T	ENSP00000353920:p.Arg287Trp					ADARB1_ENST00000360697.3_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000437626.1_Intron	p.R287W	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	1294	+			287			DRBM 2.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.859C>T	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077779	0.76528	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.14	5.14	0.70334	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.061314	0.64402	D	0.000003	D	0.86727	0.6002	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998	D;D;D;D;D	0.77004	0.957;0.989;0.975;0.957;0.957	D	0.87690	0.2553	10	0.72032	D	0.01	-46.512	11.5532	0.50733	0.1787:0.8213:0.0:0.0	.	314;287;287;315;287	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	W	287	ENSP00000441897:R287W;ENSP00000374513:R287W;ENSP00000015877:R287W;ENSP00000353920:R287W	ENSP00000015877:R287W	R	+	1	2	ADARB1	45420903	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	2.697000	0.47060	2.552000	0.86080	0.655000	0.94253	CGG		0.572	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		86	230	0	0	0	1	0	86	230					T	46596475	C	T	46596475	3	4	20	1	0	0	0	0	1	0	0	0	282	643	23	1	865	1	ADARB1	21	46596475	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		46596475	1533420	179	2574											
CECR2	27443	broad.mit.edu	37	chr22	18021889	18021889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggacccaggctaggcaCaccagaggagaagcaaatgt	13	11	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:18021889C>T	ENST00000400585.2	+	16	2006	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	CECR2_ENST00000400573.5_Missense_Mutation_p.T664I|CECR2_ENST00000262608.8_Missense_Mutation_p.T665I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	706					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGCTAGGCACACCAGAGGAG	0.547																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1993-1995)aCa>aTa		cat eye syndrome chromosome region, candidate 2							34	35	35					22																	18021889		1997	4153	6150	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021889C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1568C>T	22.37:g.18021889C>T	ENSP00000383428:p.Thr523Ile					CECR2_ENST00000400585.2_Missense_Mutation_p.T523I|CECR2_ENST00000400573.4_Missense_Mutation_p.T664I	p.T665I	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	1994	+		all_epithelial(15;0.139)	706					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1994C>T		.	.	.	.	.	.	.	.	.	.	C	4.046	0.006138	0.07866	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.28	3.1	0.35709	.	1.079560	0.07208	N	0.858745	T	0.25195	0.0612	L	0.51422	1.61	0.09310	N	1	B;B;B	0.23442	0.085;0.049;0.029	B;B;B	0.14023	0.01;0.01;0.01	T	0.17684	-1.0361	10	0.29301	T	0.29	-0.0068	10.7002	0.45922	0.0:0.7801:0.0:0.2199	.	706;523;664	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	523;664;665	ENSP00000383428:T523I;ENSP00000383417:T664I;ENSP00000262608:T665I	ENSP00000262608:T665I	T	+	2	0	CECR2	16401889	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.558000	0.23469	1.467000	0.48044	0.655000	0.94253	ACA		0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	77	0	0	0	1	0	9	77					T	18021889	C	T	18021889	3	4	20	1	0	0	0	0	1	0	0	0	3215	478	17	2	2051	2	CECR2	22	18021889	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		18021889	33282677	180	2575											
C22orf13	83606	broad.mit.edu	37	chr22	24939822	24939822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcacggtcggcataggCtgggttgttgtagaagatgc	15	8	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:24939822C>T	ENST00000407471.3	-	5	806	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T|GUCD1_ENST00000435822.1_Missense_Mutation_p.A206T	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	206																	TCGGCATAGGCTGGGTTGTTG	0.592																																						ENST00000435822.1																			0											c.(616-618)Gcc>Acc		guanylyl cyclase domain containing 1							52	44	46					22																	24939822		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24939822C>T	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.616G>A	22.37:g.24939822C>T	ENSP00000386076:p.Ala206Thr					GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000407471.3_Missense_Mutation_p.A206T|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T	p.A206T	NM_031444.2	NP_113632.2					5	940	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.616G>A	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924874	0.73213	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664	.	.	.	4.69	4.69	0.59074	.	0.054782	0.64402	D	0.000001	T	0.77751	0.4177	M	0.81497	2.545	0.80722	D	1	D;D;P;P	0.61697	0.979;0.99;0.924;0.896	P;P;P;P	0.60236	0.652;0.871;0.784;0.673	T	0.81200	-0.1041	9	0.56958	D	0.05	-35.0815	16.9392	0.86211	0.0:1.0:0.0:0.0	.	262;270;163;206	B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;CV013_HUMAN	T	206;206;262	.	ENSP00000381297:A206T	A	-	1	0	C22orf13	23269822	1.000000	0.71417	0.888000	0.34837	0.088000	0.18126	7.586000	0.82596	2.304000	0.77564	0.563000	0.77884	GCC		0.592	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		36	84	0	0	0	1	0	36	84					T	24939822	C	T	24939822	3	4	20	1	0	0	0	0	1	0	0	0	2142	797	28	2	114	2	C22orf13	22	24939822	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	6917933	24939822	26364744	181	2576											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471275	37471275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccggccgtggccaccacGgggatcctctcggcgtaggg	15	15	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:37471275G>A	ENST00000346753.3	-	11	1385	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000381792.2_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	423	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGCCACCACGGGGATCCTCT	0.657																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1240-1242)ccC>ccT		transmembrane protease, serine 6							54	57	56					22																	37471275		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471275G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1269C>T	22.37:g.37471275G>A						TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000346753.3_Silent_p.P423P	p.P414P			Q8IU80	TMPS6_HUMAN			11	1382	-			423			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.1242C>T	CCDS13941.1																																																																																				0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		5	303	0	0	0	1	0	5	303					A	37471275	G	A	37471275	2	1	20	1	0	0	0	0	0	0	0	1	16303	1103	39	1		1	TMPRSS6	22	37471275	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	12531453	37471275	13833291	182	2577											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		11	162						11	162	---	---	---	---	-	21627680	GAG	-	21627678	7	5	20	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-2L-AAQJ-01A-12D-A397-08		21627678	133642882	183	2578											
NR0B1	190	broad.mit.edu	37	chrX	30326930	30326930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctggtagcgcctctTtaccccctggcctctgcgcg	11	19	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30326930T>G	ENST00000378970.4	-	1	785	c.551A>C	c.(550-552)aAa>aCa	p.K184T	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	184	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TAGCGCCTCTTTACCCCCTGG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(550-552)aAa>aCa		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						11	9	10					X																	30326930		2189	4273	6462	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326930T>G	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.551A>C	X.37:g.30326930T>G	ENSP00000368253:p.Lys184Thr		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	785	-			184			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.551A>C	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	T	2.662	-0.279477	0.05642	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97752	-3.63;-4.52	4.32	0.238	0.15480	.	1.525170	0.04086	N	0.310508	D	0.91597	0.7345	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.85206	0.1018	10	0.52906	T	0.07	0.6249	4.5457	0.12079	0.0:0.422:0.3572:0.2207	.	184	P51843	NR0B1_HUMAN	T	184	ENSP00000368253:K184T;ENSP00000396403:K184T	ENSP00000368253:K184T	K	-	2	0	NR0B1	30236851	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.356000	0.07661	-0.201000	0.10284	-0.402000	0.06365	AAA		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		14	43	0	0	0	1	0	14	43					G	30326930	T	G	30326930	3	3	20	1	0	0	0	0	1	0	0	0	10655	1841	64	4	869	4	NR0B1	23	30326930	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	8699252	30326930	124943630	184	2579											
NR0B1	190	broad.mit.edu	37	chrX	30327066	30327066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgccctgccgcgggtGgtcttcaccacaaaagcagc	12	14	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30327066G>C	ENST00000378970.4	-	1	649	c.415C>G	c.(415-417)Cac>Gac	p.H139D	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	139	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCGCGGGTGGTCTTCACCA	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(415-417)Cac>Gac		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						22	21	21					X																	30327066		2202	4293	6495	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327066G>C	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.415C>G	X.37:g.30327066G>C	ENSP00000368253:p.His139Asp		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	649	-			139			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.415C>G	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507718	0.64410	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98164	-3.9;-4.76	3.96	3.96	0.45880	.	0.000000	0.42053	D	0.000762	D	0.98397	0.9467	M	0.66939	2.045	0.40318	D	0.978796	D	0.69078	0.997	D	0.69142	0.962	D	0.99107	1.0845	10	0.87932	D	0	-5.5412	12.706	0.57061	0.0:0.0:1.0:0.0	.	139	P51843	NR0B1_HUMAN	D	139	ENSP00000368253:H139D;ENSP00000396403:H139D	ENSP00000368253:H139D	H	-	1	0	NR0B1	30236987	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.474000	0.53129	2.222000	0.72286	0.513000	0.50165	CAC		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		41	135	0	0	0	1	0	41	135					C	30327066	G	C	30327066	3	2	20	1	0	0	0	0	1	0	0	0	10655	1348	47	5	1005	5	NR0B1	23	30327066	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	136	30327066	124943494	185	2580											
FAM47A	158724	broad.mit.edu	37	chrX	34148936	34148936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtggagactggacctcCgacgtgtcttgggatgttcc	15	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		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						ACTGGACCTCCGACGTGTCTT	0.642																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.R487Q(1)	large_intestine(1)	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						c.(1459-1461)cGg>cAg		family with sequence similarity 47, member A							47	54	51					X																	34148936		2192	4286	6478	SO:0001583	missense	158724							g.chrX:34148936C>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.1460G>A	X.37:g.34148936C>T	ENSP00000345029:p.Arg487Gln						p.R487Q	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1511	-			487					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1460G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.489	1.100058	0.20552	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.446	0.446	0.16602	.	.	.	.	.	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.44811	0.461	T	0.23762	-1.0179	8	0.13470	T	0.59	.	.	.	.	.	487	Q5JRC9	FA47A_HUMAN	Q	487	ENSP00000345029:R487Q	ENSP00000345029:R487Q	R	-	2	0	FAM47A	34058857	0.022000	0.18835	0.006000	0.13384	0.016000	0.09150	0.010000	0.13242	0.435000	0.26365	0.183000	0.17082	CGG		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		76	299	0	0	0	1	0	76	299					T	34148936	C	T	34148936	3	4	20	1	0	0	0	0	1	0	0	0	5594	652	23	1	919	1	FAM47A	23	34148936	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3821870	34148936	121121624	186	2581											
MED14	9282	broad.mit.edu	37	chrX	40526067	40526067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggtgatggggctctcAaagccccactgggggagctg	16	11	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:40526067A>C	ENST00000324817.1	-	24	3288	c.3170T>G	c.(3169-3171)tTg>tGg	p.L1057W		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1057	Pro-rich.				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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGGCTCTCAAAGCCCCACT	0.493																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3169-3171)tTg>tGg		mediator complex subunit 14							29	26	27					X																	40526067		2201	4290	6491	SO:0001583	missense	9282				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.chrX:40526067A>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3170T>G	X.37:g.40526067A>C	ENSP00000323720:p.Leu1057Trp						p.L1057W	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			24	3288	-			1057			Pro-rich.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3170T>G	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337558	0.81911	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.75155	0.3811	L	0.53249	1.67	0.58432	D	0.999991	D	0.76494	0.999	D	0.77557	0.99	T	0.77587	-0.2532	9	0.72032	D	0.01	.	14.8838	0.70553	1.0:0.0:0.0:0.0	.	1057	O60244	MED14_HUMAN	W	1057	.	ENSP00000323720:L1057W	L	-	2	0	MED14	40411011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.721000	0.91446	1.896000	0.54893	0.402000	0.26972	TTG		0.493	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		30	66	0	0	0	1	0	30	66					C	40526067	A	C	40526067	3	2	20	1	0	0	0	0	1	0	0	0	9473	131	5	4	1226	4	MED14	23	40526067	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	6377131	40526067	114744493	187	2582											
SSX3	10214	broad.mit.edu	37	chrX	48209463	48209463	+	Frame_Shift_Del	DEL	G	G	-													cagaggtagttggttttcccGgggggcacagctgtttccca							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48209463delG	ENST00000298396.2	-	6	477	c.425delC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Del_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Del_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TGGTTTTCCCGGGGGGCACAG	0.493																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cgfs		synovial sarcoma, X breakpoint 3							229	213	219					X																	48209463		2203	4300	6503	SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209463delG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.425delC	X.37:g.48209463delG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376895.1_Frame_Shift_Del_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Del_p.P142fs	p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Del	DEL	ENST00000298396.2	37	c.425delC	CCDS14291.1																																																																																				0.493	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	1316						7	1316	---	---	---	---	-	48209463	G	-	48209463	7	5	20	1	0	1	0	1	0	0	0	0	15257	1116	39	0	200	0	SSX3	23	48209463	Frame_Shift_Del	DEL	G	TCGA-2L-AAQJ-01A-12D-A397-08	7683396	48209463	107061097	188	2583											
KCND1	3750	broad.mit.edu	37	chrX	48819916	48819916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttcctgagggtgctgcCggccctgccaccgccgccag	15	16	0	1	rs145016539		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48819916C>T	ENST00000218176.3	-	6	3167	c.1870G>A	c.(1870-1872)Ggc>Agc	p.G624S	KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	624					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGGGTGCTGCCGGCCCTGCCA	0.632																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1870-1872)Ggc>Agc		potassium voltage-gated channel, Shal-related subfamily, member 1			SER/GLY	3,3832		0,2,1,1630,570	31	27	28		1870	-1	0	X	dbSNP_134	28	0,6728		0,0,0,2428,1872	no	missense	KCND1	NM_004979.4	56	0,2,1,4058,2442	TT,TC,T,CC,C		0.0,0.0782,0.0284	benign	624/648	48819916	3,10560	2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819916C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1870G>A	X.37:g.48819916C>T	ENSP00000218176:p.Gly624Ser					KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	p.G624S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			6	3167	-			624					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1870G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	1.827	-0.470870	0.04445	7.82E-4	0.0	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95918	-3.34;-3.85	5.32	-0.965	0.10323	.	1.211090	0.05587	N	0.573947	D	0.88919	0.6568	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77501	-0.2564	10	0.02654	T	1	.	3.4758	0.07583	0.197:0.4041:0.0:0.3989	.	624	Q9NSA2	KCND1_HUMAN	S	247;624	ENSP00000365660:G247S;ENSP00000218176:G624S	ENSP00000218176:G624S	G	-	1	0	KCND1	48704860	0.959000	0.32827	0.014000	0.15608	0.107000	0.19398	1.496000	0.35638	0.195000	0.20347	-0.743000	0.03520	GGC		0.632	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		24	84	0	0	0	1	0	24	84					T	48819916	C	T	48819916	3	4	20	1	0	0	0	0	1	0	0	0	8048	652	23	1	77	1	KCND1	23	48819916	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	610453	48819916	106450644	189	2584											
ATRX	546	broad.mit.edu	37	chrX	76778785	76778787	+	In_Frame_Del	DEL	TCT	TCT	-													ttctttcttcttcagtcaacTcttcttcttctttgtggtcc							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:76778785_76778787delTCT	ENST00000373344.5	-	31	7006_7008	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.2226_2227EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2264	Interaction with MECP2.|Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCAGTCAACTCTTCTTCTTCTT	0.369			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6790-6795)gag>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778785_76778787delTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6792_6794delAGA	X.37:g.76778794_76778796delTCT	ENSP00000362441:p.Glu2265del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR	p.EE2264del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7006_7008	-			2264			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6792_6794delAGA	CCDS14434.1																																																																																				0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	1070						7	1070	---	---	---	---	-	76778787	TCT	-	76778785	7	5	20	1	0	1	0	1	0	0	0	0	1209	1551	54	0	704	0	ATRX	23	76778785	In_Frame_Del	DEL	TCT	TCGA-2L-AAQJ-01A-12D-A397-08	27958869	76778785	78491775	190	2585											
HDX	139324	broad.mit.edu	37	chrX	83724365	83724365	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtctgtatgtttgttTgttccttgcctacttgatga	10	6	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:83724365T>A	ENST00000297977.5	-	3	477	c.366A>T	c.(364-366)acA>acT	p.T122T	HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	122						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGTTTGTTTGTTCCTTGCC	0.403																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(364-366)acA>acT		highly divergent homeobox							272	225	241					X																	83724365		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724365T>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.366A>T	X.37:g.83724365T>A						HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T	p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	477	-			122					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.366A>T	CCDS35342.1																																																																																				0.403	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		66	374	0	0	0	1	0	66	374					A	83724365	T	A	83724365	2	1	20	1	0	0	0	0	0	0	0	1	7056	1799	63	5		5	HDX	23	83724365	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	6945580	83724365	71546195	191	2586											
VSIG1	340547	broad.mit.edu	37	chrX	107316507	107316507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgggattttggtcattgGaaatctgacaaattttgaac	9	7	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:107316507G>A	ENST00000217957.5	+	5	713	c.596G>A	c.(595-597)gGa>gAa	p.G199E	VSIG1_ENST00000415430.3_Missense_Mutation_p.G235E	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGGTCATTGGAAATCTGACA	0.418																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(703-705)gGa>gAa		V-set and immunoglobulin domain containing 1							231	213	219					X																	107316507		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107316507G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.596G>A	X.37:g.107316507G>A	ENSP00000217957:p.Gly199Glu					VSIG1_ENST00000217957.5_Missense_Mutation_p.G199E	p.G235E	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			6	865	+			199					C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.704G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786560	0.70337	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.11495	2.77;2.77	5.27	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207594	0.40908	D	0.000995	T	0.12944	0.0314	N	0.16790	0.44	0.42936	D	0.99433	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.13845	-1.0494	10	0.02654	T	1	.	9.9443	0.41600	0.0969:0.0:0.9031:0.0	.	235;199	C9J4P2;Q86XK7	.;VSIG1_HUMAN	E	235;199	ENSP00000402219:G235E;ENSP00000217957:G199E	ENSP00000217957:G199E	G	+	2	0	VSIG1	107203163	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.976000	0.56867	1.198000	0.43158	0.513000	0.50165	GGA		0.418	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		194	1011	0	0	0	1	0	194	1011					A	107316507	G	A	107316507	3	1	20	1	0	0	0	0	1	0	0	0	17276	1174	41	2	726	2	VSIG1	23	107316507	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23592142	107316507	47954053	192	2587											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218925	130218925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtctggatgtagtgcTggatgacaatcagaatgtgc	13	6	3	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:130218925T>C	ENST00000276211.5	+	7	1187	c.842T>C	c.(841-843)cTg>cCg	p.L281P	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	281	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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						GATGTAGTGCTGGATGACAAT	0.488																																						ENST00000276211.5																			0				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						c.(841-843)cTg>cCg		Rho GTPase activating protein 36							197	162	174					X																	130218925		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:130218925T>C		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.842T>C	X.37:g.130218925T>C	ENSP00000276211:p.Leu281Pro					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P	p.L281P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			7	1187	+			281			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.842T>C	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378294	0.82682	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.187606	0.26397	N	0.024602	T	0.65186	0.2667	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.987	T	0.68876	-0.5293	10	0.52906	T	0.07	.	10.0987	0.42491	0.0:0.0:0.0:1.0	.	250;269;281	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	P	281;269;250;145	ENSP00000276211:L281P;ENSP00000359960:L269P;ENSP00000408515:L250P;ENSP00000359959:L145P	ENSP00000276211:L281P	L	+	2	0	ARHGAP36	130046606	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.818000	0.75257	1.909000	0.55274	0.356000	0.21956	CTG		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		113	548	0	0	0	1	0	113	548					C	130218925	T	C	130218925	3	2	20	1	0	0	0	0	1	0	0	0	883	1580	55	4	864	4	ARHGAP36	23	130218925	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	22902418	130218925	25051635	193	2588											
ARHGEF6	9459	broad.mit.edu	37	chrX	135789073	135789073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaactatttacctgtgcTgagtgagcacatttacagct	8	8	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:135789073T>A	ENST00000250617.6	-	9	2245	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGTGCTGAGTGAGCAC	0.408																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1039-1041)cAg>cTg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							184	166	172					X																	135789073		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135789073T>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1040A>T	X.37:g.135789073T>A	ENSP00000250617:p.Gln347Leu					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L	p.Q347L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			9	2245	-	Acute lymphoblastic leukemia(192;0.000127)		347			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1040A>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295049	0.60086	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.15	5.15	0.70609	Dbl homology (DH) domain (5);	0.210007	0.49916	D	0.000125	T	0.70718	0.3256	M	0.81802	2.56	0.42510	D	0.992962	P;P	0.43352	0.629;0.804	B;P	0.47346	0.326;0.544	T	0.76280	-0.3017	10	0.72032	D	0.01	.	13.1422	0.59440	0.0:0.0:0.0:1.0	.	220;347	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	347;193;193;193;220	ENSP00000250617:Q347L;ENSP00000359654:Q193L;ENSP00000359656:Q193L;ENSP00000439483:Q220L	ENSP00000250617:Q347L	Q	-	2	0	ARHGEF6	135616739	1.000000	0.71417	0.995000	0.50966	0.557000	0.35523	7.138000	0.77305	1.813000	0.52934	0.486000	0.48141	CAG		0.408	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		7	627	0	0	0	1	0	7	627					A	135789073	T	A	135789073	3	1	20	1	0	0	0	0	1	0	0	0	910	1580	55	5	1346	5	ARHGEF6	23	135789073	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	5570148	135789073	19481487	194	2589											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1182						9	1182	---	---	---	---	-	140994641	CTC	-	140994639	7	5	20	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-2L-AAQJ-01A-12D-A397-08	5205566	140994639	14275921	195	2590											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	252						7	252	---	---	---	---	-	149639327	CAG	-	149639325	7	5	20	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-2L-AAQJ-01A-12D-A397-08	8644686	149639325	5631235	196	2591											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	407						8	407	---	---	---	---	-	149639635	GCA	-	149639633	7	5	20	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2L-AAQJ-01A-12D-A397-08	308	149639633	5630927	197	2592											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1050						7	1050	---	---	---	---	-	149937528	GGC	-	149937526	7	5	20	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-2L-AAQJ-01A-12D-A397-08	297893	149937526	5333034	198	2593											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	438						9	438	---	---	---	---	-	151303908	AGG	-	151303906	7	5	20	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-2L-AAQJ-01A-12D-A397-08	1366380	151303906	3966654	199	2594											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		8	164						8	164	---	---	---	---	-	152087572	GAG	-	152087570	7	5	20	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-2L-AAQJ-01A-12D-A397-08	783664	152087570	3182990	200	2595											
SLC2A7	155184	broad.mit.edu	37	chr1	9085071	9085071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagagaggttgtagccGtactggaaggctgagccaaa	13	9	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(112-114)taC>taT		solute carrier family 2 (facilitated glucose transporter), member 7							52	52	52					1																	9085071		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9085071G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.114C>T	1.37:g.9085071G>A							p.Y38Y	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	113	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	38					A2A333	Silent	SNP	ENST00000400906.1	37	c.114C>T	CCDS98.2																																																																																				0.647	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		45	228	0	0	0	1	0	45	228					A	9085071	G	A	9085071	2	1	21	1	0	0	0	0	0	0	0	1	14600	1140	40	1		1	SLC2A7	1	9085071	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		9085071	240165550	1	2596											
CLCN6	1185	broad.mit.edu	37	chr1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagcgcaaacggagccAgtccatgaagtcctacccat	10	14	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2026-2028)cAg>cGg		chloride channel, voltage-sensitive 6							70	66	67					1																	11897102		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897102A>G	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2027A>G	1.37:g.11897102A>G	ENSP00000234488:p.Gln676Arg					CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000312413.6_3'UTR	p.Q676R	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2079	+	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)	676					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2027A>G	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664137	0.29604	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91237	-2.8;-2.8;-2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	L	0.34521	1.04	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.004	T	0.80251	-0.1460	10	0.16420	T	0.52	-27.6288	15.1511	0.72700	1.0:0.0:0.0:0.0	.	654;676	F8W9R3;P51797	.;CLCN6_HUMAN	R	676;654;676	ENSP00000234488:Q676R;ENSP00000365670:Q654R;ENSP00000365679:Q676R	ENSP00000234488:Q676R	Q	+	2	0	CLCN6	11819689	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.422000	0.90262	2.189000	0.69895	0.459000	0.35465	CAG		0.602	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		70	219	0	0	0	1	0	70	219					G	11897102	A	G	11897102	3	3	21	1	0	0	0	0	1	0	0	0	3476	188	7	4	2111	4	CLCN6	1	11897102	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	2812031	11897102	237353519	2	2597											
NBPF1	55672	broad.mit.edu	37	chr1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctctactgcctccaGcagctccctgctgagcctgg	10	16	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25	21	22					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		15	1831	0	0	0	1	0	15	1831					C	16892284	G	C	16892284	3	2	21	1	0	0	0	0	1	0	0	0	10233	962	34	5	523	5	NBPF1	1	16892284	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	4995182	16892284	232358337	3	2598											
KIAA0467	23334	broad.mit.edu	37	chr1	43902866	43902866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgatgagagctgtgCgccccgtgggtacctggcag	16	11	0	2	rs143602595		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:43902866C>T	ENST00000562955.1	+	42	5888	c.5888C>T	c.(5887-5889)gCg>gTg	p.A1963V	SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGCTGTGCGCCCCGTGGG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19243	0.0		0.0	False		,,,				2504	0.0					ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(5887-5889)gCg>gTg		seizure threshold 2 homolog (mouse)		C	VAL/ALA	0,4406		0,0,2203	115	112	113		5888	3.9	1	1	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SZT2	NM_015284.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1963/3376	43902866	2,13004	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902866C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5888C>T	1.37:g.43902866C>T	ENSP00000457168:p.Ala1963Val					SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	p.A1963V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			42	5888	+			2020					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5888C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859171	0.51376	0.0	2.33E-4	ENSG00000198198	ENST00000372442	.	.	.	5.86	3.88	0.44766	.	0.255324	0.38663	N	0.001618	T	0.11922	0.0290	N	0.08118	0	0.24335	N	0.994987	P	0.35774	0.519	B	0.24269	0.052	T	0.13980	-1.0489	9	0.27785	T	0.31	.	8.642	0.33983	0.3233:0.5576:0.1191:0.0	.	1963	Q5T011-5	.	V	1121	.	ENSP00000361519:A1121V	A	+	2	0	SZT2	43675453	1.000000	0.71417	0.992000	0.48379	0.801000	0.45260	5.486000	0.66856	1.475000	0.48197	0.655000	0.94253	GCG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		6	458	0	0	0	1	0	6	458					T	43902866	C	T	43902866	3	4	21	1	0	0	0	0	1	0	0	0	8208	768	27	1	3464	1	KIAA0467	1	43902866	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	27010582	43902866	205347755	4	2599											
LEPR	3953	broad.mit.edu	37	chr1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccccctgtttattcaCggacatcagagttctccagg	8	15	3	1	rs538482870		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3331-3333)aCg>aTg		leptin receptor							69	66	67					1																	66102532		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102532C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3332C>T	1.37:g.66102532C>T	ENSP00000330393:p.Thr1111Met					LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	p.T1111M	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3517	+			1111					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3332C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048241	0.19827	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.37	-1.07	0.09968	.	0.746455	0.13820	N	0.360475	T	0.31765	0.0807	L	0.51422	1.61	0.09310	N	1	D	0.56287	0.975	P	0.49999	0.628	T	0.12372	-1.0550	10	0.48119	T	0.1	-4.0534	5.9674	0.19332	0.1701:0.3559:0.402:0.0719	.	1111	P48357	LEPR_HUMAN	M	1111;178	ENSP00000330393:T1111M	ENSP00000330393:T1111M	T	+	2	0	LEPR	65875120	0.038000	0.19896	0.098000	0.21074	0.002000	0.02628	0.224000	0.17738	0.136000	0.18733	-0.237000	0.12165	ACG		0.418	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		48	175	0	0	0	1	0	48	175					T	66102532	C	T	66102532	3	4	21	1	0	0	0	0	1	0	0	0	8759	536	19	1	3632	1	LEPR	1	66102532	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	22199666	66102532	183148089	5	2600											
SGIP1	84251	broad.mit.edu	37	chr1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgcaatgtactatcgcCgctcaatttagaagaagtcc	7	12	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1117-1119)cCg>cTg		SH3-domain GRB2-like (endophilin) interacting protein 1							78	96	90					1																	67147855		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147855C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1118C>T	1.37:g.67147855C>T	ENSP00000360076:p.Pro373Leu					SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	p.P373L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1195	+			373			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1118C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068566	0.76301	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03152	4.03;4.03	5.19	4.26	0.50523	.	0.113033	0.64402	D	0.000010	T	0.07369	0.0186	L	0.47716	1.5	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.79108	0.992;0.005	T	0.13229	-1.0517	10	0.52906	T	0.07	-9.3174	13.4763	0.61310	0.0:0.9243:0.0:0.0757	.	376;373	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	377;376;376;373	ENSP00000237247:P377L;ENSP00000360076:P373L	ENSP00000237247:P377L	P	+	2	0	SGIP1	66920443	0.996000	0.38824	1.000000	0.80357	0.965000	0.64279	4.809000	0.62591	2.570000	0.86706	0.455000	0.32223	CCG		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		119	427	0	0	0	1	0	119	427					T	67147855	C	T	67147855	3	4	21	1	0	0	0	0	1	0	0	0	14256	652	23	1	1176	1	SGIP1	1	67147855	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1045323	67147855	182102766	6	2601											
S1PR1	1901	broad.mit.edu	37	chr1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaacgggagcaataacTtccgcctcttcctgctaatc	6	15	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(472-474)Ttc>Gtc		sphingosine-1-phosphate receptor 1							99	93	95					1																	101705012		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705012T>G	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.472T>G	1.37:g.101705012T>G	ENSP00000305416:p.Phe158Val		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.F158V	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	847	+			158					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.472T>G	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	6.195	0.404153	0.11754	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.46	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.270993	0.42964	D	0.000624	T	0.04588	0.0125	N	0.02916	-0.46	0.31924	N	0.613066	B	0.02656	0.0	B	0.06405	0.002	T	0.38067	-0.9678	10	0.17369	T	0.5	.	7.8339	0.29360	0.0:0.0721:0.1384:0.7895	.	158	P21453	S1PR1_HUMAN	V	158	ENSP00000305416:F158V	ENSP00000305416:F158V	F	+	1	0	S1PR1	101477600	1.000000	0.71417	0.972000	0.41901	0.514000	0.34195	3.361000	0.52306	0.918000	0.36919	0.374000	0.22700	TTC		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		71	279	0	0	0	1	0	71	279					G	101705012	T	G	101705012	3	3	21	1	0	0	0	0	1	0	0	0	13843	1609	56	4	474	4	S1PR1	1	101705012	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	34557157	101705012	147545609	7	2602											
AMY2A	279	broad.mit.edu	37	chr1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttgaatgtgagcgaTatttagctccgaagggattt	11	6	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ATGTGAGCGATATTTAGCTCC	0.423																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Tat>Gat		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						276	228	244					1																	104160198		2201	4279	6480	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160198T>G	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.136T>G	1.37:g.104160198T>G	ENSP00000397582:p.Tyr46Asp						p.Y46D	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	200	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	46					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.136T>G	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.43|15.43	2.831461|2.831461	0.50845|0.50845	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.99663	.|-6.33	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.056220	.|0.64402	.|D	.|0.000001	D|D	0.99462|0.99462	0.9809|0.9809	M|M	0.82132|0.82132	2.575|2.575	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.985	D|D	0.98570|0.98570	1.0645|1.0645	5|10	.|0.87932	.|D	.|0	.|.	11.6147|11.6147	0.51083|0.51083	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|46;46	.|B9EJG1;P04746	.|.;AMYP_HUMAN	R|D	44|46	.|ENSP00000397582:Y46D	.|ENSP00000377509:Y46D	I|Y	+|+	2|1	0|0	AMY2A|AMY2A	103961721|103961721	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	7.267000|7.267000	0.78462|0.78462	1.455000|1.455000	0.47813|0.47813	0.374000|0.374000	0.22700|0.22700	ATA|TAT		0.423	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		319	1040	0	0	0	1	0	319	1040					G	104160198	T	G	104160198	3	3	21	1	0	0	0	0	1	0	0	0	594	1406	49	4	138	4	AMY2A	1	104160198	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	2455186	104160198	145090423	8	2603											
ASH1L	55870	broad.mit.edu	37	chr1	155450526	155450527	+	Frame_Shift_Ins	INS	-	-	T													ccgaggttttcttccttttcINSttttttttaatggtttggac							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:155450526_155450527insT	ENST00000368346.3	-	3	2773_2774	c.2134_2135insA	c.(2134-2136)agafs	p.R712fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R712fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	712					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAAT	0.401																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2134-2136)aaafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450526_155450527insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2135dupA	1.37:g.155450534_155450534dupT	ENSP00000357330:p.Arg712fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs	p.K712fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2773_2774	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		712					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.2134_2135insA																																																																																					0.401	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	789						7	789	---	---	---	---	T	155450527	-	T	155450526	7	5	21	1	0	1	1	0	0	0	0	0	1042	913	32	0	6863	0	ASH1L	1	155450526	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	51290328	155450526	93800095	9	2604											
PYHIN1	149628	broad.mit.edu	37	chr1	158914733	158914733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccccaggaacagagtcaGcatccaaaaccttcagaggc	8	14	2	2	rs150828296	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1258-1260)caG>caA		pyrin and HIN domain family, member 1							120	114	116					1																	158914733		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158914733G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1260G>A	1.37:g.158914733G>A						PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392252.3_Silent_p.Q411Q	p.Q420Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			7	1505	+	all_hematologic(112;0.0378)		420					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1260G>A	CCDS1178.1																																																																																				0.458	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		5	360	0	0	0	1	0	5	360					A	158914733	G	A	158914733	2	1	21	1	0	0	0	0	0	0	0	1	12915	962	34	2		2	PYHIN1	1	158914733	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	3464207	158914733	90335888	10	2605											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166670	161166670	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcagtgaagcaaagcGctgtagagaaaaagggagag	13	6	2	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.5	-	2	1062	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	212					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAAGCAAAGCGCTGTAGAGAA	0.527																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.e2-1		ADAM metallopeptidase with thrombospondin type 1 motif, 4							120	125	123					1																	161166670		2203	4300	6503	SO:0001630	splice_region_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166670G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.634-1C>T	1.37:g.161166670G>A						ADAMTS4_ENST00000367995.3_Splice_Site_p.R212_splice	p.R212_splice	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1062	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		212					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Splice_Site	SNP	ENST00000367996.5	37	c.633_splice	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989431	0.74589	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.76839	-0.51;-1.05	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);	0.197716	0.32548	N	0.005951	T	0.75287	0.3829	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.75	T	0.79671	-0.1706	10	0.87932	D	0	.	11.7012	0.51571	0.0:0.0:0.823:0.177	.	212;212	Q5VTW1;O75173	.;ATS4_HUMAN	C	212	ENSP00000356975:R212C;ENSP00000356974:R212C	ENSP00000356974:R212C	R	-	1	0	ADAMTS4	159433294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.564000	0.67359	2.418000	0.82041	0.650000	0.86243	CGC		0.527	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	Missense_Mutation	164	769	0	0	0	1	0	164	769					A	161166670	G	A	161166670	5	1	21	1	0	0	0	0	0	0	1	0	268	1101	38	1	1911	1	ADAMTS4	1	161166670	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2251937	161166670	88083951	11	2606											
FMO3	2328	broad.mit.edu	37	chr1	171083214	171083214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtggcattgtgtccGtaaagcctaacgtgaaggaa	12	7	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171083214G>A	ENST00000367755.4	+	7	1006	c.895G>A	c.(895-897)Gta>Ata	p.V299I	FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000392085.2_Missense_Mutation_p.V299I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	299					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)			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)	CATTGTGTCCGTAAAGCCTAA	0.448																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(895-897)Gta>Ata		flavin containing monooxygenase 3							132	115	121					1																	171083214		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.chr1:171083214G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.895G>A	1.37:g.171083214G>A	ENSP00000356729:p.Val299Ile					FMO3_ENST00000392085.2_Missense_Mutation_p.V299I|FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I	p.V299I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1006	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		299					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.895G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.696916	0.00725	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.73	-3.92	0.04155	.	0.472641	0.25161	N	0.032676	T	0.07683	0.0193	N	0.05158	-0.105	0.09310	N	1	B;B;B	0.15141	0.006;0.012;0.002	B;B;B	0.13407	0.003;0.009;0.009	T	0.36529	-0.9744	10	0.12766	T	0.61	-5.0372	8.7136	0.34397	0.5223:0.1026:0.3751:0.0	.	236;279;299	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	299;299;279;236	ENSP00000356729:V299I;ENSP00000375935:V299I;ENSP00000444073:V279I;ENSP00000439500:V236I	ENSP00000356729:V299I	V	+	1	0	FMO3	169349838	0.000000	0.05858	0.034000	0.17996	0.041000	0.13682	-1.414000	0.02471	-1.022000	0.03346	-2.115000	0.00351	GTA		0.448	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	375	0	0	0	1	0	5	375					A	171083214	G	A	171083214	3	1	21	1	0	0	0	0	1	0	0	0	5981	1145	40	1	917	1	FMO3	1	171083214	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	9916544	171083214	78167407	12	2607											
SLC9A11	284525	broad.mit.edu	37	chr1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-													ctgttgccccgaaaatttccAaaaaaaattgatgcgatgct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)tttfs	p.F199fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAAAATTTCCAAAAAAAATTG	0.279																																						ENST00000367714.3																			0											c.(595-597)ttfs		solute carrier family 9, member C2 (putative)							52	56	54					1																	173552688		2203	4298	6501	SO:0001589	frameshift_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552688delA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.597delT	1.37:g.173552688delA	ENSP00000356687:p.Phe199fs					SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	p.F199fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1019	-			199					Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	c.597delT	CCDS1308.1																																																																																				0.279	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	888						8	888	---	---	---	---	-	173552688	A	-	173552688	7	5	21	1	0	1	0	1	0	0	0	0	14761	127	5	0	2869	0	SLC9A11	1	173552688	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08	2469474	173552688	75697933	13	2608											
CFH	3075	broad.mit.edu	37	chr1	196709747	196709747	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaattcattcttttttttttAggccttccttgtaaatctcc	4	9	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:196709747A>T	ENST00000367429.4	+	18	3022		c.e18-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTTTTTTTTAGGCCTTCCTT	0.303																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.e18-1		complement factor H							82	83	83					1																	196709747		2203	4300	6503	SO:0001630	splice_region_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709747A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2783-1A>T	1.37:g.196709747A>T								NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3022	+								A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Splice_Site	SNP	ENST00000367429.4	37		CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	8.179	0.793443	0.16327	.	.	ENSG00000000971	ENST00000367429	.	.	.	6.16	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.727	0.40337	0.846:0.0:0.0:0.154	.	.	.	.	.	-1	.	.	.	+	.	.	CFH	194976370	0.996000	0.38824	0.701000	0.30321	0.005000	0.04900	4.603000	0.61105	1.117000	0.41842	0.528000	0.53228	.		0.303	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	Intron	7	603	0	0	0	1	0	7	603					T	196709747	A	T	196709747	5	4	21	1	0	0	0	0	0	0	1	0	3292	434	15	5	2869	5	CFH	1	196709747	Splice_Site	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	23157059	196709747	52540874	14	2609											
TRIM67	440730	broad.mit.edu	37	chr1	231298879	231298879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcctgctttcccggggatCggggctgcaggcgggcgccg	18	14	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:231298879C>T	ENST00000366653.5	+	1	164	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L|TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000444294.3_Missense_Mutation_p.S55L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	55					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGGGGATCGGGGCTGCAG	0.741																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(163-165)tCg>tTg		tripartite motif containing 67							5	6	5					1																	231298879		1795	3951	5746	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298879C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.164C>T	1.37:g.231298879C>T	ENSP00000355613:p.Ser55Leu					TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000366653.5_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L	p.S55L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1022	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	55					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.164C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079775	0.20309	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000366653	T;T;T	0.70516	-0.49;-0.4;-0.49	4.02	4.02	0.46733	Zinc finger, RING-type (1);	2.080550	0.03330	N	0.193199	T	0.55784	0.1942	N	0.08118	0	0.09310	N	1	B	0.22851	0.076	B	0.12156	0.007	T	0.41305	-0.9516	10	0.28530	T	0.3	.	13.4243	0.61015	0.0:1.0:0.0:0.0	.	55	Q6ZTA4	TRI67_HUMAN	L	55	ENSP00000412124:S55L;ENSP00000355612:S55L;ENSP00000355613:S55L	ENSP00000355612:S55L	S	+	2	0	TRIM67	229365502	0.772000	0.28567	0.083000	0.20561	0.114000	0.19823	-0.265000	0.08644	1.949000	0.56562	0.313000	0.20887	TCG		0.741	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		6	33	0	0	0	1	0	6	33					T	231298879	C	T	231298879	3	4	21	1	0	0	0	0	1	0	0	0	16593	893	31	1	166	1	TRIM67	1	231298879	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	34589132	231298879	17951742	15	2610											
OR1C1	26188	broad.mit.edu	37	chr1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagtgtcgctctcagGcatatggggggatgaagggc	17	7	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					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)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(802-804)Cct>Act		olfactory receptor, family 1, subfamily C, member 1							87	84	85					1																	247920907		2021	4201	6222	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920907G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.802C>A	1.37:g.247920907G>T	ENSP00000386138:p.Pro268Thr						p.P268T	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1075	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	268					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.802C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.835122	0.00579	.	.	ENSG00000221888	ENST00000408896	T	0.00207	8.55	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.11313	0.125	0.09310	N	1	B	0.22800	0.075	B	0.32393	0.145	T	0.09122	-1.0689	9	0.38643	T	0.18	.	5.286	0.15702	0.1055:0.0:0.5646:0.3299	.	268	Q15619	OR1C1_HUMAN	T	268	ENSP00000386138:P268T	ENSP00000386138:P268T	P	-	1	0	OR1C1	245987530	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.309000	0.08145	0.681000	0.31386	0.591000	0.81541	CCT		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			119	278	1	0	8.64887e-64	1	9.97947e-64	119	278					T	247920907	G	T	247920907	3	4	21	1	0	0	0	0	1	0	0	0	10994	1203	42	3	144	3	OR1C1	1	247920907	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	16622028	247920907	1329714	16	2611											
OR2T1	26696	broad.mit.edu	37	chr1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatctctatcatcttcttCaccgcactgatggccaatgg	6	13	6	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TCATCTTCTTCACCGCACTGA	0.443																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(256-258)ttC>ttA		olfactory receptor, family 2, subfamily T, member 1							160	145	150					1																	248569553		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569553C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.258C>A	1.37:g.248569553C>A	ENSP00000355430:p.Phe86Leu						p.F86L	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	258	+	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)		86					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.258C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	1.274	-0.612375	0.03690	.	.	ENSG00000175143	ENST00000366474	T	0.00672	5.89	4.71	-0.642	0.11486	.	0.422262	0.17374	N	0.176578	T	0.00241	0.0007	N	0.00496	-1.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.02654	T	1	.	1.4067	0.02282	0.1474:0.2756:0.1437:0.4333	.	86	O43869	OR2T1_HUMAN	L	86	ENSP00000355430:F86L	ENSP00000355430:F86L	F	+	3	2	OR2T1	246636176	0.000000	0.05858	0.105000	0.21289	0.088000	0.18126	-4.701000	0.00196	0.213000	0.20722	0.557000	0.71058	TTC		0.443	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			132	773	1	0	2.35797e-81	1	2.7399e-81	132	773					A	248569553	C	A	248569553	3	1	21	1	0	0	0	0	1	0	0	0	11058	825	29	3	260	3	OR2T1	1	248569553	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	648646	248569553	681068	17	2612											
PUM2	23369	broad.mit.edu	37	chr2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccagattctgagtttcagGatttgaaaattcttcaacaa	6	7	4	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000361078.2	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(655-657)Cct>Tct		pumilio RNA-binding family member 2							84	85	85					2																	20508209		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20508209G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.655C>T	2.37:g.20508209G>A	ENSP00000354370:p.Pro219Ser					PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S	p.P219S			Q8TB72	PUM2_HUMAN			5	677	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		219			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.655C>T		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581242	0.46006	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18016	2.31;2.58;2.58;2.24;2.31;2.31	6.07	4.22	0.49857	.	0.151121	0.64402	D	0.000008	T	0.08044	0.0201	N	0.08118	0	0.38222	D	0.94079	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25882	-1.0119	10	0.21014	T	0.42	-4.9397	8.5974	0.33723	0.0667:0.0:0.5388:0.3945	.	163;219;219	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	219;219;219;110;219;163;219	ENSP00000338173:P219S;ENSP00000354370:P219S;ENSP00000326746:P219S;ENSP00000409905:P110S;ENSP00000385992:P219S;ENSP00000440093:P163S	ENSP00000326746:P219S	P	-	1	0	PUM2	20371690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.825000	0.39081	0.840000	0.34995	0.650000	0.86243	CCT		0.448	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		107	522	0	0	0	1	0	107	522					A	20508209	G	A	20508209	3	1	21	1	0	0	0	0	1	0	0	0	12876	1174	41	2	2603	2	PUM2	2	20508209	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		20508209	222691164	18	2613											
ACTG2	72	broad.mit.edu	37	chr2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcaagcctgagtatgatGaggcagggccctccattgtc	12	11	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409624.1	+	10	1736	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1093-1095)Gag>Tag		actin, gamma 2, smooth muscle, enteric							77	75	76					2																	74146664		2203	4300	6503	SO:0001587	stop_gained	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146664G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1093G>T	2.37:g.74146664G>T	ENSP00000386857:p.Glu365*					ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*|ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*	p.E365*			P63267	ACTH_HUMAN			10	1736	+			365					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Nonsense_Mutation	SNP	ENST00000409624.1	37	c.1093G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762352	0.96906	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	.	.	.	4.8	4.8	0.61643	.	0.502454	0.17436	N	0.174289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1435	0.86760	0.0:0.0:1.0:0.0	.	.	.	.	X	322;365;365	.	ENSP00000295137:E365X	E	+	1	0	ACTG2	74000172	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.601000	0.98297	2.651000	0.90000	0.591000	0.81541	GAG		0.532	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		6	299	1	0	0.0215528	1	0.0219519	6	299					T	74146664	G	T	74146664	4	4	21	1	0	0	0	0	0	1	0	0	197	1291	45	3	1123	3	ACTG2	2	74146664	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	53638455	74146664	169052709	19	2614											
TTN	7273	broad.mit.edu	37	chr2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgaacttcaggtcagCgataggtgttttgttgaccc	10	10	3	2	rs370995867		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000591111.1	-	254	56277	c.56053G>A	c.(56053-56055)Gct>Act	p.A18685T	TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20326T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 35. {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)			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)			TTCAGGTCAGCGATAGGTGTT	0.443																																						ENST00000589042.1																			0				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						c.(60976-60978)Gct>Act		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3812		0,0,1906	138	132	134		34357,34156,53272,33781	0.8	0	2		134	1,8267		0,1,4133	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,1,6039	TT,TC,CC		0.0121,0.0,0.0083	benign,benign,benign,benign	11453/27119,11386/27052,17758/33424,11261/26927	179455476	1,12079	1906	4134	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455476C>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.56053G>A	2.37:g.179455476C>T	ENSP00000465570:p.Ala18685Thr					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T|TTN-AS1_ENST00000589907.1_RNA	p.A20326T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61200	-			18685			Fibronectin type-III 47.		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.60976G>A		.	.	.	.	.	.	.	.	.	.	C	6.198	0.404659	0.11754	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.11	0.782	0.18567	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35158	0.0922	N	0.13352	0.335	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.28396	-1.0045	9	0.87932	D	0	.	11.1443	0.48422	0.0:0.2701:0.5822:0.1477	.	11261;11386;11453;18685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17758;11261;11453;11386;11259	ENSP00000343764:A17758T;ENSP00000434586:A11261T;ENSP00000340554:A11453T;ENSP00000352154:A11386T	ENSP00000340554:A11453T	A	-	1	0	TTN	179163722	0.086000	0.21541	0.001000	0.08648	0.796000	0.44982	0.327000	0.19663	-0.131000	0.11578	0.655000	0.94253	GCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	484	0	0	0	1	0	7	484					T	179455476	C	T	179455476	3	4	21	1	0	0	0	0	1	0	0	0	16789	768	27	1	47239	1	TTN	2	179455476	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	105308812	179455476	63743897	20	2615											
ASNSD1	54529	broad.mit.edu	37	chr2	190535201	190535201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaaatgttgtctcctttCtaaattctctgccgatttgg	7	8	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1681-1683)Cta>Tta		asparagine synthetase domain containing 1							69	72	71					2																	190535201		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190535201C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1681C>T	2.37:g.190535201C>T						ASNSD1_ENST00000607062.1_Silent_p.L80L	p.L561L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		6	2094	+			561			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1681C>T	CCDS2300.1																																																																																				0.353	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		97	410	0	0	0	1	0	97	410					T	190535201	C	T	190535201	2	4	21	1	0	0	0	0	0	0	0	1	1050	912	32	2		2	ASNSD1	2	190535201	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	11079725	190535201	52664172	21	2616											
CTDSP1	58190	broad.mit.edu	37	chr2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctcacagcggggcgCccctgcttgtggaggagaat	15	12	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|RP11-378A13.2_ENST00000608367.1_RNA|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(181-183)Ccc>Tcc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1							30	29	29					2																	219266400		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219266400C>T	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.181C>T	2.37:g.219266400C>T	ENSP00000273062:p.Pro61Ser					CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	517	+		Renal(207;0.0915)	61					C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.181C>T	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561410	0.65538	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.14144	2.53;2.55	5.08	4.19	0.49359	.	0.061117	0.64402	D	0.000003	T	0.19725	0.0474	M	0.74467	2.265	0.58432	D	0.999999	B;B	0.17852	0.024;0.024	B;B	0.26202	0.024;0.067	T	0.03060	-1.1077	10	0.44086	T	0.13	-16.6294	12.6141	0.56567	0.0:0.9192:0.0:0.0807	.	61;61	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	S	61	ENSP00000392248:P61S;ENSP00000273062:P61S	ENSP00000273062:P61S	P	+	1	0	CTDSP1	218974644	0.543000	0.26434	0.924000	0.36721	0.734000	0.41952	3.105000	0.50314	2.362000	0.80069	0.655000	0.94253	CCC		0.667	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		36	126	0	0	0	1	0	36	126					T	219266400	C	T	219266400	3	4	21	1	0	0	0	0	1	0	0	0	4014	739	26	2	187	2	CTDSP1	2	219266400	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	28731199	219266400	23932973	22	2617											
KIAA1486	57624	broad.mit.edu	37	chr2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccacctctccctcccccGtcagcatggggaggtccctg	9	19	2	0	rs551391208		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642																																						ENST00000272907.6																			1	Substitution - Missense(1)	p.V440I(1)	large_intestine(1)								c.(1318-1320)Gtc>Atc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							35	39	37					2																	226447451		2007	4183	6190	SO:0001583	missense	57624							g.chr2:226447451G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile					NYAP2_ENST00000409269.2_Intron	p.V440I	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1731	+			440			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1318G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		27	128	0	0	0	1	0	27	128					A	226447451	G	A	226447451	3	1	21	1	0	0	0	0	1	0	0	0	8267	1145	40	1	1328	1	KIAA1486	2	226447451	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	7181051	226447451	16751922	23	2618											
TGFBR2	7048	broad.mit.edu	37	chr3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-													ctcgcccgggggattgctcaCctccacagtgatcacactcc							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cacctcfs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1078-1083)cafs		transforming growth factor, beta receptor II (70/80kDa)																																				SO:0001589	frameshift_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713755_30713758delCCTC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1080_1083delCCTC	3.37:g.30713755_30713758delCCTC	ENSP00000295754:p.His360fs					TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	p.HL360fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1462_1465	+			360			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	ENST00000295754.5	37	c.1080_1083delCCTC	CCDS2648.1																																																																																				0.608	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			96	448						96	448	---	---	---	---	-	30713758	CCTC	-	30713755	7	5	21	1	0	1	0	1	0	0	0	0	15874	506	18	0	1173	0	TGFBR2	3	30713755	Frame_Shift_Del	DEL	CCTC	TCGA-2L-AAQL-01A-11D-A38G-08		30713755	167308675	24	2619											
TTC21A	199223	broad.mit.edu	37	chr3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccttctttgaattgGccaagaaggtgtctagccgg	11	10	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000431162.2	+	23	3183	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	TTC21A_ENST00000301819.6_Missense_Mutation_p.A1018T|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3052-3054)Gcc>Acc		tetratricopeptide repeat domain 21A							138	143	142					3																	39177931		1891	4116	6007	SO:0001583	missense	199223						binding	g.chr3:39177931G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3049G>A	3.37:g.39177931G>A	ENSP00000398211:p.Ala1017Thr					TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1017T	p.A1018T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	23	3229	+			1017					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3052G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175489	0.38413	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54479	0.57;0.57;0.57	4.79	2.7	0.31948	Tetratricopeptide repeat-containing (1);	0.648196	0.14838	N	0.295467	T	0.57095	0.2030	M	0.73430	2.235	0.09310	N	1	B;B;B	0.27416	0.178;0.005;0.003	B;B;B	0.33960	0.173;0.015;0.006	T	0.57370	-0.7823	10	0.66056	D	0.02	-5.5503	13.7973	0.63180	0.0:0.0:0.7115:0.2885	.	969;1018;1017	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	T	1018;1000;1017;969	ENSP00000301819:A1018T;ENSP00000398211:A1017T;ENSP00000410882:A969T	ENSP00000301819:A1018T	A	+	1	0	TTC21A	39152935	1.000000	0.71417	0.027000	0.17364	0.857000	0.48899	1.702000	0.37836	0.990000	0.38787	0.462000	0.41574	GCC		0.438	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		7	439	0	0	0	1	0	7	439					A	39177931	G	A	39177931	3	1	21	1	0	0	0	0	1	0	0	0	16741	1203	42	2	3142	2	TTC21A	3	39177931	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	8464176	39177931	158844499	25	2620											
CELSR3	1951	broad.mit.edu	37	chr3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcataagctgggatgCgcccaataatgcccgacggg	15	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000164024.4	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1194H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		AGCTGGGATGCGCCCAATAAT	0.537																																						ENST00000544264.1																			0				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						c.(3580-3582)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							117	111	113					3																	48696487		2203	4300	6503	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.chr3:48696487C>T	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.3581G>A	3.37:g.48696487C>T	ENSP00000164024:p.Arg1194His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1194H	p.R1194H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3861	-			1194			Cadherin 9.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3581G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049277	0.55218	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.39406	1.08;1.08	5.44	4.56	0.56223	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59797	0.2220	M	0.82056	2.57	0.46437	D	0.999045	D;D	0.89917	1.0;0.999	D;P	0.63488	0.915;0.869	T	0.63545	-0.6613	9	0.72032	D	0.01	.	7.936	0.29931	0.0:0.7749:0.0:0.2251	.	1194;1264	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1194	ENSP00000164024:R1194H;ENSP00000445694:R1194H	ENSP00000164024:R1194H	R	-	2	0	CELSR3	48671491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.728000	0.47319	2.561000	0.86390	0.561000	0.74099	CGC		0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	228	0	0	0	1	0	5	228					T	48696487	C	T	48696487	3	4	21	1	0	0	0	0	1	0	0	0	3232	768	27	1	6497	1	CELSR3	3	48696487	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	9518556	48696487	149325943	26	2621											
DNAH1	25981	broad.mit.edu	37	chr3	52387151	52387151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccaggatggtgaaggagttCcaaccctacctggacctttg	11	11	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:52387151C>G	ENST00000420323.2	+	19	3321	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1020	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGGAGTTCCAACCCTACC	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3058-3060)ttC>ttG		dynein, axonemal, heavy chain 1							50	54	52					3																	52387151		2085	4219	6304	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52387151C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3060C>G	3.37:g.52387151C>G	ENSP00000401514:p.Phe1020Leu						p.F1020L	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	19	3321	+			1020			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3060C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499784	0.85176	.	.	ENSG00000114841	ENST00000420323	T	0.58940	0.3	5.54	4.66	0.58398	.	0.000000	0.56097	D	0.000031	T	0.60907	0.2305	L	0.42632	1.34	0.51012	D	0.999902	D;P	0.76494	0.999;0.931	D;D	0.75484	0.986;0.936	T	0.57171	-0.7857	10	0.05833	T	0.94	.	10.0759	0.42360	0.0:0.8508:0.0:0.1492	.	1020;1020	C9JXH6;Q9P2D7-3	.;.	L	1020	ENSP00000401514:F1020L	ENSP00000401514:F1020L	F	+	3	2	DNAH1	52362191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.810000	0.47979	2.626000	0.88956	0.650000	0.86243	TTC		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	138	0	0	0	1	0	5	138					G	52387151	C	G	52387151	3	3	21	1	0	0	0	0	1	0	0	0	4613	854	30	5	3130	5	DNAH1	3	52387151	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3690664	52387151	145635279	27	2622											
SLC9A10	285335	broad.mit.edu	37	chr3	112005603	112005603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacttcagggaggtcctcAgtactgaaaaaaaactcctt	8	9	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:112005603A>G	ENST00000305815.5	-	2	288	c.36T>C	c.(34-36)acT>acC	p.T12T	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	12					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGAGGTCCTCAGTACTGAAAA	0.353																																						ENST00000305815.5																			0											c.(34-36)acT>acC		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							64	64	64					3																	112005603		2203	4298	6501	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005603A>G	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.36T>C	3.37:g.112005603A>G						SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	p.T12T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			2	288	-			12					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.36T>C	CCDS33817.1																																																																																				0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		8	235	0	0	0	1	0	8	235					G	112005603	A	G	112005603	2	3	21	1	0	0	0	0	0	0	0	1	14760	175	7	4		4	SLC9A10	3	112005603	Silent	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	59618452	112005603	86016827	28	2623											
NPHP3	27031	broad.mit.edu	37	chr3	132415576	132415576	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaataatcaccactcaccGcgcgatcattttgccgaaaa	5	12	3	0	rs542131508		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.0		0.0	False		,,,				2504	0.001					ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e15+1		nephronophthisis 3 (adolescent)							154	138	144					3																	132415576		2203	4300	6503	SO:0001630	splice_region_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132415576G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2171+1C>T	3.37:g.132415576G>A						NPHP3_ENST00000326682.8_Intron	p.R724_splice	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			15	2256	-			724					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	c.2171_splice	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071278	0.20147	.	.	ENSG00000113971	ENST00000337331	T	0.64085	-0.08	5.9	-3.65	0.04502	.	0.566832	0.22573	N	0.058315	T	0.30448	0.0765	N	0.02539	-0.55	0.35234	D	0.777212	B	0.02656	0.0	B	0.01281	0.0	T	0.04373	-1.0956	10	0.45353	T	0.12	-0.0351	11.0565	0.47922	0.6313:0.0:0.2772:0.0916	.	724	Q7Z494	NPHP3_HUMAN	C	724	ENSP00000338766:R724C	ENSP00000338766:R724C	R	-	1	0	NPHP3	133898266	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.361000	0.07612	-0.584000	0.05913	0.650000	0.86243	CGT		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	Missense_Mutation	204	848	0	0	0	1	0	204	848					A	132415576	G	A	132415576	5	1	21	1	0	0	0	0	0	0	1	0	10622	1101	38	1	1874	1	NPHP3	3	132415576	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	20409973	132415576	65606854	29	2624											
ANAPC4	29945	broad.mit.edu	37	chr4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctcaccaagtttgtgCaggtaaagcagctgaagttt	10	9	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353																																						ENST00000315368.3																			1	Substitution - Nonsense(1)	p.Q292*(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(874-876)Cag>Tag		anaphase promoting complex subunit 4							81	76	78					4																	25395511		2203	4300	6503	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25395511C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.874C>T	4.37:g.25395511C>T	ENSP00000318775:p.Gln292*					ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			11	1016	+		Breast(46;0.0503)	292					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.874C>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341870	0.98224	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.3366	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000318775:Q292X	Q	+	1	0	ANAPC4	25004609	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.162000	0.77515	2.830000	0.97506	0.585000	0.79938	CAG		0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		4	197	0	0	0	1	0	4	197					T	25395511	C	T	25395511	4	4	21	1	0	0	0	0	0	1	0	0	604	711	25	2	912	2	ANAPC4	4	25395511	Nonsense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		25395511	165758765	30	2625											
CHRNA9	55584	broad.mit.edu	37	chr4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgcttatttgtggatccGccaaatctggcacgatgcct	10	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					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.R84H(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)	TTGTGGATCCGCCAAATCTGG	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			1	Substitution - Missense(1)	p.R84H(1)	lung(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						c.(250-252)cGc>cAc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)																																			SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339267G>A	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.251G>A	4.37:g.40339267G>A	ENSP00000312663:p.Arg84His						p.R84H	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	390	+			84					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.251G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045322	0.93685	.	.	ENSG00000174343	ENST00000310169	T	0.80214	-1.35	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.90937	0.7151	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91105	0.4917	10	0.66056	D	0.02	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	H	84	ENSP00000312663:R84H	ENSP00000312663:R84H	R	+	2	0	CHRNA9	40034024	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	CGC		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	146	0	0	0	1	0	5	146					A	40339267	G	A	40339267	3	1	21	1	0	0	0	0	1	0	0	0	3398	1087	38	1	261	1	CHRNA9	4	40339267	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	14943756	40339267	150815009	31	2626											
F11	2160	broad.mit.edu	37	chr4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtcacctaagattttgCgtgtctacagtggcatttta	9	7	2	2	rs369435407		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11-AS1_ENST00000505103.1_RNA|F11_ENST00000264692.4_Missense_Mutation_p.R391C	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.R443C(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32	GRCh37	CM062624	F11	M		c.(1171-1173)Cgt>Tgt		coagulation factor XI	Coagulation Factor IX(DB00100)	C	CYS/ARG	0,4406		0,0,2203	121	122	122		1327	4.9	1	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206814C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys					F11_ENST00000403665.2_Missense_Mutation_p.R443C	p.R391C			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1504	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	443			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1171C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			5	373	0	0	0	1	0	5	373					T	187206814	C	T	187206814	3	4	21	1	0	0	0	0	1	0	0	0	5355	768	27	1	1369	1	F11	4	187206814	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	146867547	187206814	3947462	32	2627											
SLC12A7	10723	broad.mit.edu	37	chr5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcagggcgtagcgggCggcgttcagggataggccac	19	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2017-2019)Gcc>Tcc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						57	53	55					5																	1074737		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1074737C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2017G>T	5.37:g.1074737C>A	ENSP00000264930:p.Ala673Ser						p.A673S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		16	2060	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		673					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2017G>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.40|18.40	3.616049|3.616049	0.66672|0.66672	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.98862|.	-5.19|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Amino acid permease domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84097|0.84097	0.5397|0.5397	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88363|0.88363	0.2989|0.2989	10|5	0.87932|.	D|.	0|.	.|.	14.1738|14.1738	0.65527|0.65527	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	673|.	Q9Y666|.	S12A7_HUMAN|.	S|L	673|30	ENSP00000264930:A673S|.	ENSP00000264930:A673S|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1127737|1127737	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.045000|0.045000	0.14185|0.14185	6.881000|6.881000	0.75584|0.75584	1.996000|1.996000	0.58369|0.58369	0.313000|0.313000	0.20887|0.20887	GCC|CGC		0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		38	163	1	0	5.20006e-24	1	5.75846e-24	38	163					A	1074737	C	A	1074737	3	1	21	1	0	0	0	0	1	0	0	0	14438	768	27	3	1270	3	SLC12A7	5	1074737	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1074737	179840523	33	2628											
FBXL7	23194	broad.mit.edu	37	chr5	15928366	15928366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgggcgagaccatcaaCgtggaccgcgccctcaaggt	13	14	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					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)			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						AGACCATCAACGTGGACCGCG	0.667																																						ENST00000504595.1																			0				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						c.(493-495)aaC>aaT		F-box and leucine-rich repeat protein 7							24	28	27					5																	15928366		2118	4226	6344	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928366C>T	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.495C>T	5.37:g.15928366C>T						FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	p.N165N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	976	+			165					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.495C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		19	73	0	0	0	1	0	19	73					T	15928366	C	T	15928366	2	4	21	1	0	0	0	0	0	0	0	1	5749	535	19	1		1	FBXL7	5	15928366	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	14853629	15928366	164986894	34	2629											
DDX46	9879	broad.mit.edu	37	chr5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtaaacctattgaaGtacaagttggaggcaggagt	11	7	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000354283.4	+	14	1876	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000452510.2_Missense_Mutation_p.V581I			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1741-1743)Gta>Ata		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							220	198	206					5																	134130654		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134130654G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1741G>A	5.37:g.134130654G>A	ENSP00000346236:p.Val581Ile					DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.V581I	p.V581I	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		14	1899	+			581			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1741G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872519	0.33069	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92149	-2.98;-2.98	5.42	5.42	0.78866	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	N	0.04335	-0.225	0.80722	D	1	B	0.12630	0.006	B	0.16289	0.015	T	0.77138	-0.2698	10	0.02654	T	1	-15.5181	19.5998	0.95557	0.0:0.0:1.0:0.0	.	581	Q7L014	DDX46_HUMAN	I	581	ENSP00000416534:V581I;ENSP00000346236:V581I	ENSP00000346236:V581I	V	+	1	0	DDX46	134158553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.887000	0.87295	2.717000	0.92951	0.655000	0.94253	GTA		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		145	481	0	0	0	1	0	145	481					A	134130654	G	A	134130654	3	1	21	1	0	0	0	0	1	0	0	0	4375	1029	36	2	1795	2	DDX46	5	134130654	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	118202288	134130654	46784606	35	2630											
PCDHA1	56147	broad.mit.edu	37	chr5	140167336	140167336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggacgcgcaggagaaCgcgctggtgtcctattcgct	15	12	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.N487K(2)	lung(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1459-1461)aaC>aaT									68	73	71					5																	140167336		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167336C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1461C>T	5.37:g.140167336C>T						PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	p.N487N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1461C>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		102	362	0	0	0	1	0	102	362					T	140167336	C	T	140167336	2	4	21	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHA1	5	140167336	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	6036682	140167336	40747924	36	2631											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751953	140751953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatgctgcacctaatcttCgcagatagcttgcaagagat	9	10	2	2	rs376952769		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1990-1992)ttC>ttT				C	,,,,,,,,	0,4224		0,0,2112	67	73	71		,,,,,,,1992,1992	-1	0.5	5		71	1,8487		0,1,4243	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,,	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,664/930,664/815	140751953	1,12711	2112	4244	6356	SO:0001819	synonymous_variant	0							g.chr5:140751953C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1992C>T	5.37:g.140751953C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.F664F	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2123	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1992C>T	CCDS58980.1																																																																																				0.607	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		72	297	0	0	0	1	0	72	297					T	140751953	C	T	140751953	2	4	21	1	0	0	0	0	0	0	0	1	11606	883	31	1		1	PCDHGB3	5	140751953	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	584617	140751953	40163307	37	2632											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541162	178541162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgaacacgtcaatgtcGttgtgcttcccaggcggtgg	14	10	1	1	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19030	0.001		0.0	False		,,,				2504	0.0					ENST00000251582.7																			1	Substitution - coding silent(1)	p.N1114N(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3340-3342)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	192	148	163		3342	-7.7	0.7	5	dbSNP_131	163	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTS2	NM_014244.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1114/1212	178541162	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541162G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3342C>T	5.37:g.178541162G>A							p.N1114N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3443	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1114						Silent	SNP	ENST00000251582.7	37	c.3342C>T	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		13	243	0	0	0	1	0	13	243					A	178541162	G	A	178541162	2	1	21	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178541162	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	37789209	178541162	2374098	38	2633											
PKHD1	5314	broad.mit.edu	37	chr6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagaccctcatgtgcttcaGacagcacagatctgaggaca	9	12	3	4			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(292-294)tCt>tTt		polycystic kidney and hepatic disease 1 (autosomal recessive)							128	117	120					6																	51944795		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944795G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.293C>T	6.37:g.51944795G>A	ENSP00000360158:p.Ser98Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	568	-	Lung NSC(77;0.0605)		98			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.293C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345983	0.41599	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.13;-2.34	5.31	3.41	0.39046	.	0.768295	0.12007	N	0.508240	T	0.74951	0.3784	L	0.46157	1.445	0.09310	N	1	P;P	0.45474	0.859;0.779	B;B	0.40444	0.329;0.177	T	0.67452	-0.5667	10	0.62326	D	0.03	.	9.7386	0.40404	0.0:0.1492:0.6976:0.1532	.	98;98	P08F94-2;P08F94	.;PKHD1_HUMAN	F	98	ENSP00000360158:S98F;ENSP00000341097:S98F	ENSP00000341097:S98F	S	-	2	0	PKHD1	52052754	0.010000	0.17322	0.008000	0.14137	0.776000	0.43924	1.556000	0.36288	2.631000	0.89168	0.655000	0.94253	TCT		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		89	295	0	0	0	1	0	89	295					A	51944795	G	A	51944795	3	1	21	1	0	0	0	0	1	0	0	0	12013	942	33	2	12222	2	PKHD1	6	51944795	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		51944795	119170272	39	2634											
LIN28B	389421	broad.mit.edu	37	chr6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgctctttacagagCaaactattcatggaaggatt	7	9	4	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(199-201)agC>agA		lin-28 homolog B (C. elegans)							67	76	73					6																	105474175		2196	4298	6494	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474175C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.201C>A	6.37:g.105474175C>A	ENSP00000344401:p.Ser67Arg						p.S67R	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			3	404	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	67			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.201C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783141	0.70222	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.074367	0.85682	D	0.000000	T	0.61160	0.2325	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66497	0.818;0.944	T	0.65302	-0.6201	9	0.52906	T	0.07	-13.7426	14.9456	0.71029	0.0:0.9318:0.0:0.0682	.	44;67	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	67	.	ENSP00000344401:S67R	S	+	3	2	LIN28B	105580868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.128000	0.50492	1.499000	0.48617	0.650000	0.86243	AGC		0.338	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		76	350	1	0	2.00396e-56	1	2.2962e-56	76	350					A	105474175	C	A	105474175	3	1	21	1	0	0	0	0	1	0	0	0	8839	709	25	3	211	3	LIN28B	6	105474175	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	53529380	105474175	65640892	40	2635											
DNAH11	8701	broad.mit.edu	37	chr7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctctgggtggatgatcGagctgagtttatgaagcatt	12	6	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000409508.3	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1045Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3133-3135)cGa>cAa		dynein, axonemal, heavy chain 11							187	182	183					7																	21640427		1972	4152	6124	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640427G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3134G>A	7.37:g.21640427G>A	ENSP00000475939:p.Arg1045Gln					DNAH11_ENST00000409508.3_Missense_Mutation_p.R1045Q	p.R1045Q			Q96DT5	DYH11_HUMAN			16	3165	+			1045			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3134G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762115	0.69763	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.23	5.23	0.72850	.	0.280795	0.30639	N	0.009182	T	0.35537	0.0935	.	.	.	0.46317	D	0.998987	D	0.76494	0.999	P	0.55615	0.78	T	0.02320	-1.1177	9	0.23891	T	0.37	.	13.1616	0.59547	0.0791:0.0:0.9209:0.0	.	1045	Q96DT5	DYH11_HUMAN	Q	1045	ENSP00000330671:R1045Q	ENSP00000330671:R1045Q	R	+	2	0	DNAH11	21606952	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	4.241000	0.58707	2.452000	0.82932	0.551000	0.68910	CGA		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		136	763	0	0	0	1	0	136	763					A	21640427	G	A	21640427	3	1	21	1	0	0	0	0	1	0	0	0	4615	1058	37	1	3196	1	DNAH11	7	21640427	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		21640427	137498236	41	2636											
HECW1	23072	broad.mit.edu	37	chr7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtgcaaggagccgctcCgatacagctacaaccccgac	11	16	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000395891.2	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(118-120)Cga>Tga		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							51	60	57					7																	43351452		1996	4148	6144	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351452C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.118C>T	7.37:g.43351452C>T	ENSP00000379228:p.Arg40*					HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			4	723	+			40					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.118C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838602	0.91117	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.103	0.65070	0.3056:0.6944:0.0:0.0	.	.	.	.	X	40;40;39	.	ENSP00000265522:R39X	R	+	1	2	HECW1	43317977	0.992000	0.36948	0.995000	0.50966	0.246000	0.25737	2.924000	0.48876	2.813000	0.96785	0.655000	0.94253	CGA		0.617	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		54	239	0	0	0	1	0	54	239					T	43351452	C	T	43351452	4	4	21	1	0	0	0	0	0	1	0	0	7072	644	23	1	124	1	HECW1	7	43351452	Nonsense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	21711025	43351452	115787211	42	2637											
STYXL1	51657	broad.mit.edu	37	chr7	75634627	75634627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctttgattttcaagtcCttctgaatcttggggtcaca	10	8	4	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000248600.1	-	6	891	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000451157.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(547-549)aaG>aaA		serine/threonine/tyrosine interacting-like 1							101	96	98					7																	75634627		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634627C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.549G>A	7.37:g.75634627C>T						STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K	p.K183K			Q9Y6J8	STYL1_HUMAN			6	718	-			183			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.549G>A	CCDS5580.1																																																																																				0.398	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		55	298	0	0	0	1	0	55	298					T	75634627	C	T	75634627	2	4	21	1	0	0	0	0	0	0	0	1	15413	680	24	2		2	STYXL1	7	75634627	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	32283175	75634627	83504036	43	2638											
PTPN12	5782	broad.mit.edu	37	chr7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatacagtaatagattTttggaggatgatatgggagt	12	2	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(349-351)tTt>tGt		protein tyrosine phosphatase, non-receptor type 12							109	110	110					7																	77212936		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77212936T>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.350T>G	7.37:g.77212936T>G	ENSP00000248594:p.Phe117Cys					PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	p.F117C	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			4	622	+			117			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.350T>G	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.31|18.31	3.594923|3.594923	0.66219|0.66219	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	T|.	0.39997|.	1.05|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.051905|0.051905	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89339|0.89339	0.6687|0.6687	H|H	0.99626|0.99626	4.665|4.665	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.92460|0.92460	0.5977|0.5977	10|7	0.87932|0.87932	D|D	0|0	.|.	10.7297|10.7297	0.46089|0.46089	0.1422:0.0:0.0:0.8578|0.1422:0.0:0.0:0.8578	.|.	117|.	Q05209|.	PTN12_HUMAN|.	C|V	117|80	ENSP00000248594:F117C|.	ENSP00000248594:F117C|ENSP00000430726:F80V	F|F	+|+	2|1	0|0	PTPN12|PTPN12	77050872|77050872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.753000|4.753000	0.62183|0.62183	2.140000|2.140000	0.66376|0.66376	0.482000|0.482000	0.46254|0.46254	TTT|TTT		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			57	278	0	0	0	1	0	57	278					G	77212936	T	G	77212936	3	3	21	1	0	0	0	0	1	0	0	0	12829	1841	64	4	364	4	PTPN12	7	77212936	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	1578309	77212936	81925727	44	2639											
GRM8	2918	broad.mit.edu	37	chr7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggacccctttcaccGttttcttcctctcccctggc	7	17	3	0	rs537365104		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.001					ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1582-1584)aCg>aTg		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						85	85	85					7																	126173853		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173853G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1583C>T	7.37:g.126173853G>A	ENSP00000344173:p.Thr528Met	HNSCC(24;0.065)				GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M	p.T528M			O00222	GRM8_HUMAN			9	2391	-		Prostate(267;0.186)	528					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1583C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497514	0.04291	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.92	0.64577	GPCR, family 3, nine cysteines domain (1);	0.100013	0.64402	D	0.000001	T	0.74261	0.3693	N	0.03999	-0.3	0.80722	D	1	B;B	0.16166	0.013;0.016	B;B	0.22880	0.002;0.042	T	0.69075	-0.5241	10	0.02654	T	1	.	14.0626	0.64808	0.0721:0.0:0.9279:0.0	.	528;528	O00222-2;O00222	.;GRM8_HUMAN	M	528	ENSP00000344173:T528M;ENSP00000409790:T528M;ENSP00000351142:T528M	ENSP00000344173:T528M	T	-	2	0	GRM8	125961089	0.754000	0.28360	0.709000	0.30452	0.984000	0.73092	1.180000	0.32005	1.468000	0.48064	0.643000	0.83706	ACG		0.542	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			53	363	0	0	0	1	0	53	363					A	126173853	G	A	126173853	3	1	21	1	0	0	0	0	1	0	0	0	6833	1145	40	1	1205	1	GRM8	7	126173853	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	48960917	126173853	32964810	45	2640											
FLNC	2318	broad.mit.edu	37	chr7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A													aggtctccatcaagttcaatINSgatgagcacatcccagacag							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7165-7167)gatfs	p.D2389fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7162-7167)aaatgafs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128495281_128495282insA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128495281_128495282insA	ENSP00000327145:p.Asp2389fs					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.*2356fs	p.*2389fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			43	7425_7426	+			2389					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	c.7164_7165insA	CCDS43644.1																																																																																				0.624	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			70	521						70	521	---	---	---	---	A	128495282	-	A	128495281	7	5	21	1	0	1	1	0	0	0	0	0	5960	1461	51	0	7334	0	FLNC	7	128495281	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	2321428	128495281	30643382	46	2641											
KEL	3792	broad.mit.edu	37	chr7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttaaggaagtccattTaccagagatgcgccagcctc	9	10	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGTCCATTTACCAGAGATG	0.517																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(550-552)Aaa>Caa		Kell blood group, metallo-endopeptidase							76	66	69					7																	142655036		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655036T>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.550A>C	7.37:g.142655036T>G	ENSP00000347409:p.Lys184Gln					KEL_ENST00000479768.2_5'UTR	p.K184Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			6	1024	-	Melanoma(164;0.059)		184					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.550A>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.336	0.827505	0.16749	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73363	-0.74;-0.74	5.8	3.26	0.37387	Peptidase M13 (1);	0.316302	0.26719	N	0.022860	T	0.49677	0.1571	N	0.14661	0.345	0.09310	N	1	B	0.32010	0.351	B	0.29663	0.105	T	0.30416	-0.9979	10	0.16896	T	0.51	-4.6538	5.6937	0.17843	0.0:0.0867:0.1694:0.744	.	184	P23276	KELL_HUMAN	Q	184;165	ENSP00000347409:K184Q;ENSP00000420011:K165Q	ENSP00000347409:K184Q	K	-	1	0	KEL	142365158	0.003000	0.15002	0.096000	0.21009	0.846000	0.48090	0.398000	0.20899	0.992000	0.38840	0.528000	0.53228	AAA		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		38	162	0	0	0	1	0	38	162					G	142655036	T	G	142655036	3	3	21	1	0	0	0	0	1	0	0	0	8172	1763	61	4	1704	4	KEL	7	142655036	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	14159755	142655036	16483627	47	2642											
NEIL2	252969	broad.mit.edu	37	chr8	11637109	11637109	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgttcattttttctaggtCcatggaaagaaattattcct	6	7	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000403422.3_5'UTR	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(139-141)gtC>gtG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							56	70	65					8																	11637109		2200	4296	6496	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637109C>G	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.141C>G	8.37:g.11637109C>G						NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_5'UTR	p.V47V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	740	+	all_epithelial(15;0.103)		47					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.141C>G	CCDS5984.1																																																																																				0.468	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		136	437	0	0	0	1	0	136	437					G	11637109	C	G	11637109	2	3	21	1	0	0	0	0	0	0	0	1	10361	842	30	5		5	NEIL2	8	11637109	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		11637109	134726913	48	2643											
LGI3	203190	broad.mit.edu	37	chr8	22006465	22006465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctggctgtccaccaccatCggcttgcagtgcactgcaga	11	14	0	1	rs531787685		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.0					ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(853-855)ccG>ccA		leucine-rich repeat LGI family, member 3							42	37	39					8																	22006465		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006465C>T	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.855G>A	8.37:g.22006465C>T						LGI3_ENST00000424267.2_Silent_p.P261P	p.P285P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1144	-			285					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.855G>A	CCDS6025.1																																																																																				0.637	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			41	82	0	0	0	1	0	41	82					T	22006465	C	T	22006465	2	4	21	1	0	0	0	0	0	0	0	1	8785	871	31	1		1	LGI3	8	22006465	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	10369356	22006465	124357557	49	2644											
BMP1	649	broad.mit.edu	37	chr8	22054903	22054903	+	Frame_Shift_Del	DEL	A	A	-													agtccgacaacaccgtgtccAaaaagggcttcaaggcccac							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22054903delA	ENST00000306385.5	+	15	2747	c.2077delA	c.(2077-2079)aaafs	p.K694fs	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.K694fs|BMP1_ENST00000306349.8_Frame_Shift_Del_p.K694fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	694	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CACCGTGTCCAAAAAGGGCTT	0.577																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2077-2079)aafs		bone morphogenetic protein 1							223	204	211					8																	22054903		2203	4300	6503	SO:0001589	frameshift_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054903delA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2077delA	8.37:g.22054903delA	ENSP00000305714:p.Lys694fs					BMP1_ENST00000306349.8_Frame_Shift_Del_p.K694fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.K694fs	p.K694fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	15	2747	+			694			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	ENST00000306385.5	37	c.2077delA	CCDS6026.1																																																																																				0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	1028						7	1028	---	---	---	---	-	22054903	A	-	22054903	7	5	21	1	0	1	0	1	0	0	0	0	1458	131	5	0	2135	0	BMP1	8	22054903	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08	48438	22054903	124309119	50	2645											
ATP6V1H	51606	broad.mit.edu	37	chr8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctaaggtcctggacaCtctctccaagtttttccaaa	5	14	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000359530.2	-	10	1297	c.1034G>A	c.(1033-1035)aGt>aAt	p.S345N	ATP6V1H_ENST00000523899.1_5'Flank|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.S327N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(979-981)aGt>aAt		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H							128	120	123					8																	54684564		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54684564C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1034G>A	8.37:g.54684564C>T	ENSP00000352522:p.Ser345Asn					ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N	p.S327N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		9	1539	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	345					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.980G>A	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835276	0.71373	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.46567	1.45	0.80722	D	1	P;P	0.40360	0.68;0.714	P;B	0.44946	0.465;0.414	T	0.50800	-0.8785	9	0.15952	T	0.53	-20.9211	19.3551	0.94408	0.0:1.0:0.0:0.0	.	327;345	Q9UI12-2;Q9UI12	.;VATH_HUMAN	N	327;305;345;345	.	ENSP00000347359:S327N	S	-	2	0	ATP6V1H	54847117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.639000	0.89480	0.609000	0.83330	AGT		0.373	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		126	311	0	0	0	1	0	126	311					T	54684564	C	T	54684564	3	4	21	1	0	0	0	0	1	0	0	0	1190	565	20	2	437	2	ATP6V1H	8	54684564	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	32629661	54684564	91679458	51	2646											
DMRT2	10655	broad.mit.edu	37	chr9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcccacctgccttgAtttaaccatgcagtattcag	6	11	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000358146.2	+	3	923	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.D308G|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(922-924)gAt>gGt		doublesex and mab-3 related transcription factor 2							86	88	87					9																	1056510		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056510A>G	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.923A>G	9.37:g.1056510A>G	ENSP00000350865:p.Asp308Gly					DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.D308G	p.D308G			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1252	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	308					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.923A>G	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753973	0.69648	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.62	5.62	0.85841	.	0.289079	0.38663	N	0.001609	T	0.57755	0.2075	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.965;0.984	T	0.61108	-0.7129	10	0.87932	D	0	-21.4324	15.5071	0.75748	1.0:0.0:0.0:0.0	.	308;152	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	308	ENSP00000371686:D308G;ENSP00000305785:D308G;ENSP00000350865:D308G	ENSP00000305785:D308G	D	+	2	0	DMRT2	1046510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.730000	0.91510	2.153000	0.67306	0.528000	0.53228	GAT		0.458	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		51	242	0	0	0	1	0	51	242					G	1056510	A	G	1056510	3	3	21	1	0	0	0	0	1	0	0	0	4602	333	12	4	990	4	DMRT2	9	1056510	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08		1056510	140156921	52	2647											
GLIS3	169792	broad.mit.edu	37	chr9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacgcccttctggctgCcgggcaccgggcgcggctgg	16	17	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(634-636)gGc>gAc		GLIS family zinc finger 3							5	6	6					9																	4118378		1786	3552	5338	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118378C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.635G>A	9.37:g.4118378C>T	ENSP00000325494:p.Gly212Asp					GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	p.G212D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	828	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	212					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.635G>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	4.448	0.083027	0.08533	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10573	2.87;2.86	5.63	4.73	0.59995	.	0.314417	0.25622	N	0.029409	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.18561	0.022;0.01	T	0.40117	-0.9580	10	0.15066	T	0.55	.	5.5169	0.16912	0.0:0.6111:0.1599:0.229	.	367;212	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	D	212;367	ENSP00000325494:G212D;ENSP00000371398:G367D	ENSP00000325494:G212D	G	-	2	0	GLIS3	4108378	0.000000	0.05858	0.016000	0.15963	0.060000	0.15804	0.091000	0.15046	1.372000	0.46190	0.655000	0.94253	GGC		0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		20	44	0	0	0	1	0	20	44					T	4118378	C	T	4118378	3	4	21	1	0	0	0	0	1	0	0	0	6476	739	26	2	1724	2	GLIS3	9	4118378	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3061868	4118378	137095053	53	2648											
PLAA	9373	broad.mit.edu	37	chr9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatttagctacttgatccAgaaacataggattcaaatca	5	7	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1330-1332)cTg>cCg		phospholipase A2-activating protein							134	138	136					9																	26919394		2203	4297	6500	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919394A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1331T>C	9.37:g.26919394A>G	ENSP00000380460:p.Leu444Pro					PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	p.L444P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1748	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	444			PFU.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1331T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212242	0.79240	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.61627	0.09;0.23	5.53	5.53	0.82687	PLAA family ubiquitin binding, PFU (2);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85613	0.1259	10	0.72032	D	0.01	-5.71	15.6677	0.77242	1.0:0.0:0.0:0.0	.	444;444	E5RIM3;Q9Y263	.;PLAP_HUMAN	P	444	ENSP00000380460:L444P;ENSP00000429372:L444P	ENSP00000380460:L444P	L	-	2	0	PLAA	26909394	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.059000	0.76684	2.092000	0.63282	0.482000	0.46254	CTG		0.353	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		16	586	0	0	0	1	0	16	586					G	26919394	A	G	26919394	3	3	21	1	0	0	0	0	1	0	0	0	12053	188	7	4	1080	4	PLAA	9	26919394	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	22801016	26919394	114294037	54	2649											
COL5A1	1289	broad.mit.edu	37	chr9	137593107	137593107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaattcctcgaccgcagCgaccaccccatgatcgacat	6	17	0	1	rs563191799		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(580-582)agC>agT		collagen, type V, alpha 1							170	124	140					9																	137593107		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593107C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T						COL5A1_ENST00000464187.1_3'UTR	p.S194S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	996	+		Myeloproliferative disorder(178;0.0341)	194			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.582C>T	CCDS6982.1																																																																																				0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		37	144	0	0	0	1	0	37	144					T	137593107	C	T	137593107	2	4	21	1	0	0	0	0	0	0	0	1	3705	767	27	1		1	COL5A1	9	137593107	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	110673713	137593107	3620324	55	2650											
CUBN	8029	broad.mit.edu	37	chr10	17169885	17169885	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaggcagaccaattgcactCccttttaactctataatatc	5	11	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(289-291)ggG>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						202	199	200					10																	17169885		2202	4300	6502	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17169885C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.291G>T	10.37:g.17169885C>A						CUBN_ENST00000377823.1_Silent_p.G97G	p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			3	356	-			97					B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.291G>T	CCDS7113.1																																																																																				0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		100	587	1	0	5.77253e-36	1	6.47937e-36	100	587					A	17169885	C	A	17169885	2	1	21	1	0	0	0	0	0	0	0	1	4062	842	30	3		3	CUBN	10	17169885	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		17169885	118364862	56	2651											
TLL2	7093	broad.mit.edu	37	chr10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggagacgaggggctccGggatcttatcgccacaaaac	13	12	1	1	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1291-1293)cCg>cTg		tolloid-like 2		G	LEU/PRO	0,4406		0,0,2203	53	49	50		1292	5.1	0.5	10	dbSNP_134	50	9,8591	7.1+/-27.0	0,9,4291	yes	missense	TLL2	NM_012465.3	98	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	431/1016	98157035	9,12997	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157035G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1292C>T	10.37:g.98157035G>A	ENSP00000350630:p.Pro431Leu					TLL2_ENST00000469598.1_5'UTR	p.P431L	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1517	-		Colorectal(252;0.0846)	431			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1292C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868544	0.72065	0.0	0.001047	ENSG00000095587	ENST00000357947	T	0.39406	1.08	5.11	5.11	0.69529	CUB (5);	0.000000	0.45361	D	0.000368	T	0.72590	0.3479	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76716	-0.2857	10	0.40728	T	0.16	.	17.7077	0.88313	0.0:0.0:1.0:0.0	.	431	Q9Y6L7	TLL2_HUMAN	L	431	ENSP00000350630:P431L	ENSP00000350630:P431L	P	-	2	0	TLL2	98147025	1.000000	0.71417	0.486000	0.27416	0.177000	0.22998	9.464000	0.97655	2.654000	0.90174	0.650000	0.86243	CCG		0.577	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			20	165	0	0	0	1	0	20	165					A	98157035	G	A	98157035	3	1	21	1	0	0	0	0	1	0	0	0	15998	1116	39	1	1799	1	TLL2	10	98157035	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	80987150	98157035	37377712	57	2652											
KNDC1	85442	broad.mit.edu	37	chr10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgcagccaagttcagcGtcccccgcaaccacaagctg	10	17	1	0	rs182563365		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47	42	43		1627	-5.3	0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile					KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I	p.V543I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		26	90	0	0	0	1	0	26	90					A	135009218	G	A	135009218	3	1	21	1	0	0	0	0	1	0	0	0	8456	1145	40	1	1665	1	KNDC1	10	135009218	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	36852183	135009218	525529	58	2653											
OR51A4	401666	broad.mit.edu	37	chr11	4967400	4967400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgactgttaaatcttccGttgacacaattttgctacaa	5	8	1	2	rs2436782	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:4967400G>A	ENST00000380373.2	-	1	956	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	311			R -> W (in dbSNP:rs2436782).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAATCTTCCGTTGACACAAT	0.343																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(931-933)Cgg>Tgg		olfactory receptor, family 51, subfamily A, member 4		A	TRP/ARG	3,4395	4.2+/-10.8	0,3,2196	124	124	124		931	0.4	0	11	dbSNP_100	124	18,8578	14.0+/-48.4	0,18,4280	no	missense	OR51A4	NM_001005329.1	101	0,21,6476	AA,AG,GG		0.2094,0.0682,0.1616	possibly-damaging	311/314	4967400	21,12973	2199	4298	6497	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967400G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.931C>T	11.37:g.4967400G>A	ENSP00000369731:p.Arg311Trp					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.R311W	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	956	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	311		R -> W (in dbSNP:rs2436782).				Missense_Mutation	SNP	ENST00000380373.2	37	c.931C>T	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	g	10.02	1.237288	0.22711	6.82E-4	0.002094	ENSG00000205497	ENST00000380373	T	0.39229	1.09	2.89	0.41	0.16387	.	.	.	.	.	T	0.33030	0.0849	L	0.49513	1.565	0.09310	N	1	D	0.62365	0.991	B	0.42653	0.394	T	0.23332	-1.0191	9	0.72032	D	0.01	.	4.1905	0.10419	0.1952:0.0:0.2262:0.5786	rs2436782	311	Q8NGJ6	O51A4_HUMAN	W	311	ENSP00000369731:R311W	ENSP00000369731:R311W	R	-	1	2	OR51A4	4923976	0.445000	0.25657	0.000000	0.03702	0.001000	0.01503	0.923000	0.28757	-0.031000	0.13781	-1.442000	0.01069	CGG		0.343	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		28	811	0	0	0	1	0	28	811					A	4967400	G	A	4967400	3	1	21	1	0	0	0	0	1	0	0	0	11129	1144	40	1	12	1	OR51A4	11	4967400	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		4967400	130039116	59	2654											
E2F8	79733	broad.mit.edu	37	chr11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-													ctatctgaggcgttgacaccAaaaacagcatcacaaatttc							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)ttgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(832-834)tgfs		E2F transcription factor 8							157	156	156					11																	19256002		2199	4293	6492	SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256002delA		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.833delT	11.37:g.19256002delA	ENSP00000434199:p.Leu278fs					E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	p.L278fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			6	1065	-			278					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.833delT	CCDS7849.1																																																																																				0.383	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	784						7	784	---	---	---	---	-	19256002	A	-	19256002	7	5	21	1	0	1	0	1	0	0	0	0	4889	131	5	0	1802	0	E2F8	11	19256002	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08	14288602	19256002	115750514	60	2655											
FAT3	120114	broad.mit.edu	37	chr11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatggagaagtgacctatGtcctgcaggatgactatggc	12	8	0	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000298047.6	+	9	6381	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - Missense(2)	p.V2122L(2)	lung(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6364-6366)Gtc>Atc		FAT atypical cadherin 3							47	47	47					11																	92532543		1905	4128	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532543G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6364G>A	11.37:g.92532543G>A	ENSP00000298047:p.Val2122Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I	p.V2122I			Q8TDW7	FAT3_HUMAN			9	6381	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2122			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6364G>A		.	.	.	.	.	.	.	.	.	.	G	6.771	0.511125	0.12883	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	0.248	0.15526	.	.	.	.	.	T	0.00936	0.0031	N	0.12853	0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53464	-0.8435	9	0.23302	T	0.38	.	0.7489	0.00987	0.2335:0.2878:0.2715:0.2072	.	2122	Q8TDW7-3	.	I	2122;2122;1972	ENSP00000298047:V2122I;ENSP00000387040:V2122I;ENSP00000432586:V1972I	ENSP00000298047:V2122I	V	+	1	0	FAT3	92172191	0.011000	0.17503	0.983000	0.44433	0.964000	0.63967	0.949000	0.29109	0.412000	0.25729	-0.136000	0.14681	GTC		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		23	106	0	0	0	1	0	23	106					A	92532543	G	A	92532543	3	1	21	1	0	0	0	0	1	0	0	0	5716	1377	48	2	6398	2	FAT3	11	92532543	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	73276541	92532543	42473973	61	2656											
NCAM1	4684	broad.mit.edu	37	chr11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggctggcgagcaggatgCgaccatccacctcaaagtct	11	13	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000533760.1	+	7	1138	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000316851.7_Missense_Mutation_p.A288V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(862-864)gCg>gTg		neural cell adhesion molecule 1							50	51	51					11																	113078701		2071	4217	6288	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078701C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.539C>T	11.37:g.113078701C>T	ENSP00000473281:p.Ala180Val					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.A180V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V	p.A288V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	863	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	298			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.863C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.105555	0.77096	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.71	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205034	0.50627	D	0.000106	T	0.72293	0.3442	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.97	P;P;P;P;B	0.51657	0.612;0.612;0.609;0.676;0.329	T	0.75260	-0.3380	9	0.56958	D	0.05	-40.4986	15.5067	0.75745	0.1389:0.8611:0.0:0.0	.	298;298;298;298;298	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	180;297;288	ENSP00000384055:A297V;ENSP00000318472:A288V	ENSP00000318472:A288V	A	+	2	0	NCAM1	112583911	0.996000	0.38824	0.946000	0.38457	0.966000	0.64601	4.470000	0.60175	2.710000	0.92621	0.655000	0.94253	GCG		0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		4	60	0	0	0	1	0	4	60					T	113078701	C	T	113078701	3	4	21	1	0	0	0	0	1	0	0	0	10244	768	27	1	920	1	NCAM1	11	113078701	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	20546158	113078701	21927815	62	2657											
OR4D5	219875	broad.mit.edu	37	chr11	123810974	123810974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggtgcttctgggatcGtacacagcactgctagtcat	10	10	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(649-651)tcG>tcA		olfactory receptor, family 4, subfamily D, member 5							255	236	242					11																	123810974		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810974G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.651G>A	11.37:g.123810974G>A							p.S217S	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	725	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	217					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.651G>A	CCDS31699.1																																																																																				0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		7	811	0	0	0	1	0	7	811					A	123810974	G	A	123810974	2	1	21	1	0	0	0	0	0	0	0	1	11099	1132	40	1		1	OR4D5	11	123810974	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	10732273	123810974	11195542	63	2658											
OPCML	4978	broad.mit.edu	37	chr11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttactttccgcacatcgGgcgcagcgacatcgttcaac	8	13	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(631-633)cCc>cTc		opioid binding protein/cell adhesion molecule-like							129	114	119					11																	132307148		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307148G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.632C>T	11.37:g.132307148G>A	ENSP00000330862:p.Pro211Leu					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L	p.P211L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1210	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	211			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.632C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825927	0.71143	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.59224	0.29;0.28;1.19;1.19	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	T	0.78640	-0.2125	10	0.87932	D	0	-13.4278	19.9958	0.97383	0.0:0.0:1.0:0.0	.	211;204;210;211	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	211;204;170;178;211	ENSP00000330862:P211L;ENSP00000434750:P204L;ENSP00000363910:P170L;ENSP00000445496:P211L	ENSP00000330862:P211L	P	-	2	0	OPCML	131812358	1.000000	0.71417	0.320000	0.25306	0.040000	0.13550	9.476000	0.97823	2.825000	0.97269	0.655000	0.94253	CCC		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		39	294	0	0	0	1	0	39	294					A	132307148	G	A	132307148	3	1	21	1	0	0	0	0	1	0	0	0	10916	1232	43	2	421	2	OPCML	11	132307148	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	8496174	132307148	2699368	64	2659											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-													ccattatttcttccataccaTtttttttcttgccgaaaaat							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138	135	136					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		8	575						8	575	---	---	---	---	-	21028267	T	-	21028267	7	5	21	1	0	1	0	1	0	0	0	0	14774	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-2L-AAQL-01A-11D-A38G-08		21028267	112823628	65	2660											
KRAS	3845	broad.mit.edu	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	11	2	2	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Kirsten rat sarcoma viral oncogene homolog							109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	373	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		67	297	0	0	0	1	0	67	297					C	25380276	T	C	25380276	3	2	21	1	0	0	0	0	1	0	0	0	8468	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	4352009	25380276	108471619	66	2661											
KRT76	51350	broad.mit.edu	37	chr12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcttgatctgttcccGctcctgggcctttacttgcc	11	13	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(550-552)Cgg>Tgg		keratin 76							106	112	110					12																	53170526		2203	4298	6501	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170526G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.550C>T	12.37:g.53170526G>A	ENSP00000330101:p.Arg184Trp						p.R184W	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	603	-			184			Coil 1A.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.550C>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271171	0.59649	.	.	ENSG00000185069	ENST00000332411	D	0.90261	-2.64	4.2	1.28	0.21552	Filament (1);	0.187921	0.26140	N	0.026104	D	0.95201	0.8444	M	0.87547	2.89	0.35775	D	0.821214	D	0.89917	1.0	D	0.97110	1.0	D	0.96746	0.9550	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.2799:0.7201	.	184	Q01546	K22O_HUMAN	W	184	ENSP00000330101:R184W	ENSP00000330101:R184W	R	-	1	2	KRT76	51456793	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	1.734000	0.38166	0.284000	0.22305	-0.372000	0.07161	CGG		0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		7	522	0	0	0	1	0	7	522					A	53170526	G	A	53170526	3	1	21	1	0	0	0	0	1	0	0	0	8519	1086	38	1	1402	1	KRT76	12	53170526	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	27790250	53170526	80681369	67	2662											
PLXNC1	10154	broad.mit.edu	37	chr12	94620456	94620456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccccttcacagcttgCgacccttctgattatgagag	7	14	2	2	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1864-1866)tgC>tgT		plexin C1		C		6,4400	12.9+/-30.5	0,6,2197	172	165	167		1866	-5.5	0	12	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	PLXNC1	NM_005761.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		622/1569	94620456	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94620456C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1866C>T	12.37:g.94620456C>T							p.C622C	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			8	2115	+			622					Q59H25	Silent	SNP	ENST00000258526.4	37	c.1866C>T	CCDS9049.1																																																																																				0.483	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	451	0	0	0	1	0	5	451					T	94620456	C	T	94620456	2	4	21	1	0	0	0	0	0	0	0	1	12168	776	27	1		1	PLXNC1	12	94620456	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	41449930	94620456	39231439	68	2663											
C12orf63	144535	broad.mit.edu	37	chr12	97112291	97112291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgagatcactcttagCatgctaaaggtaagtttgaa	9	5	2	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:97112291C>T	ENST00000524981.4	+	49	6818	c.6795C>T	c.(6793-6795)agC>agT	p.S2265S				Q96N23	CL055_HUMAN		0																	TCACTCTTAGCATGCTAAAGG	0.343																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2146-2148)agC>agT									60	62	62					12																	97112291		2201	4298	6499	SO:0001819	synonymous_variant	0							g.chr12:97112291C>T																												ENST00000524981.4:c.6795C>T	12.37:g.97112291C>T							p.S716S			Q6ZTY8	CL063_HUMAN			16	2148	+			690						Silent	SNP	ENST00000524981.4	37	c.2148C>T																																																																																					0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			62	299	0	0	0	1	0	62	299					T	97112291	C	T	97112291	2	4	21	1	0	0	0	0	0	0	0	1	1711	709	25	2		2	C12orf63	12	97112291	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	2491835	97112291	36739604	69	2664											
C13orf34	79866	broad.mit.edu	37	chr13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-													agccctattcaggctagtgcAaaaaaatacagcttgggaag							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGGCTAGTGCAAAAAAATACA	0.383																																						ENST00000390667.5																			0											c.(772-774)gcfs		bora, aurora kinase A activator							103	98	100					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320117delA	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs					BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	p.A258fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			9	871	+			258			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	c.774delA	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		7	1051						7	1051	---	---	---	---	-	73320117	A	-	73320117	7	5	21	1	0	1	0	1	0	0	0	0	1733	117	5	0	804	0	C13orf34	13	73320117	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08		73320117	41849761	70	2665											
TEP1	7011	broad.mit.edu	37	chr14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgacgctttgttcccccGtaggctcagctcccgctccc	9	19	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000262715.5	-	9	1553	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1513-1515)Cgg>Tgg		telomerase-associated protein 1							142	117	125					14																	20869179		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20869179G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1513C>T	14.37:g.20869179G>A	ENSP00000262715:p.Arg505Trp					TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	p.R505W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	9	1553	-	all_cancers(95;0.00123)	all_lung(585;0.235)	505			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1513C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860278	0.51482	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	5.71	2.77	0.32553	TROVE (2);	0.542528	0.20377	N	0.093526	T	0.17789	0.0427	M	0.64997	1.995	0.20307	N	0.999916	B;B	0.22346	0.022;0.068	B;B	0.17722	0.008;0.019	T	0.18335	-1.0340	10	0.87932	D	0	-9.617	8.5605	0.33507	0.0721:0.0:0.4738:0.4541	.	397;505	G3V5X7;Q99973	.;TEP1_HUMAN	W	505;505;397	ENSP00000262715:R505W;ENSP00000452574:R397W	ENSP00000262715:R505W	R	-	1	2	TEP1	19939019	0.002000	0.14202	0.333000	0.25482	0.410000	0.31052	0.233000	0.17911	0.752000	0.32923	0.555000	0.69702	CGG		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	300	0	0	0	1	0	4	300					A	20869179	G	A	20869179	3	1	21	1	0	0	0	0	1	0	0	0	15811	1144	40	1	6558	1	TEP1	14	20869179	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		20869179	86480361	71	2666											
CHD8	57680	broad.mit.edu	37	chr14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatttcacgaagctcaggaCaatctgacaaaatcatctca	5	11	5	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000557364.1	-	14	3064	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000430710.3_Missense_Mutation_p.C655S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.C934S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2800-2802)tGt>tCt		chromodomain helicase DNA binding protein 8							65	61	62					14																	21875121		1966	4149	6115	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21875121C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2801G>C	14.37:g.21875121C>G	ENSP00000451601:p.Cys934Ser					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S|CHD8_ENST00000557364.1_Missense_Mutation_p.C934S	p.C934S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	2865	-	all_cancers(95;0.00121)		934			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2801G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.542986|4.542986	0.86022|0.86022	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.93019|.	-3.15;-3.15;-3.15|.	5.41|5.41	5.41|5.41	0.78517|0.78517	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	B;P|.	0.36633|.	0.236;0.562|.	B;B|.	0.43950|.	0.345;0.437|.	T|T	0.30357|0.30357	-0.9981|-0.9981	10|5	0.27785|.	T|.	0.31|.	-17.6138|-17.6138	18.1343|18.1343	0.89612|0.89612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	934;655|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	S|F	655;934;654;934|159	ENSP00000406288:C655S;ENSP00000382863:C934S;ENSP00000451601:C934S|.	ENSP00000262707:C654S|.	C|L	-|-	2|3	0|2	CHD8|CHD8	20944961|20944961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.932000|5.932000	0.70121|0.70121	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	TGT|TTG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		16	82	0	0	0	1	0	16	82					G	21875121	C	G	21875121	3	3	21	1	0	0	0	0	1	0	0	0	3340	478	17	5	5044	5	CHD8	14	21875121	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1005942	21875121	85474419	72	2667											
SYNE2	23224	broad.mit.edu	37	chr14	64468799	64468799	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctatcaacacctaagGgtaagtatataagttctcac	6	10	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000344113.4	+	29	3998	c.3786G>C	c.(3784-3786)agG>agC	p.R1262S	SYNE2_ENST00000554584.1_Splice_Site_p.R1262S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Splice_Site_p.R1262S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e29+1		spectrin repeat containing, nuclear envelope 2							113	106	108					14																	64468799		1862	4096	5958	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468799G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3786+1G>C	14.37:g.64468799G>C						SYNE2_ENST00000554584.1_Splice_Site_p.R1262_splice|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262_splice	p.R1262_splice	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	4016	+			1262					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.3786_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844143	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	0.66;0.66;0.28	5.41	5.41	0.78517	.	0.323796	0.26446	N	0.024340	T	0.48732	0.1516	L	0.47716	1.5	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.28011	0.039;0.085	T	0.51450	-0.8704	10	0.39692	T	0.17	.	17.3435	0.87304	0.0:0.0:1.0:0.0	.	1262;1262	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	1262	ENSP00000350719:R1262S;ENSP00000341781:R1262S;ENSP00000452570:R1262S	ENSP00000261678:R1262S	R	+	3	2	SYNE2	63538552	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	5.812000	0.69194	2.709000	0.92574	0.655000	0.94253	AGG		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation	80	315	0	0	0	1	0	80	315					C	64468799	G	C	64468799	5	2	21	1	0	0	0	0	0	0	1	0	15498	1246	43	5	3896	5	SYNE2	14	64468799	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	42593678	64468799	42880741	73	2668											
AHNAK2	113146	broad.mit.edu	37	chr14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccccgaacgacgGcatcttgaacttgggcattt	11	12	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000333244.5	-	7	9570	c.9451C>T	c.(9451-9453)Ccg>Tcg	p.P3151S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9451-9453)Ccg>Tcg		AHNAK nucleoprotein 2							197	138	157					14																	105412337		1926	4055	5981	SO:0001583	missense	113146					nucleus		g.chr14:105412337G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9451C>T	14.37:g.105412337G>A	ENSP00000353114:p.Pro3151Ser					AHNAK2_ENST00000557457.1_Intron	p.P3151S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9570	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3151					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9451C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.15	1.553486	0.27739	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.29	3.29	0.37713	.	.	.	.	.	T	0.23649	0.0572	M	0.93106	3.38	0.35976	D	0.8357	D	0.89917	1.0	D	0.87578	0.998	T	0.48790	-0.9004	9	0.52906	T	0.07	.	14.1401	0.65313	0.0:0.0:1.0:0.0	.	3151	Q8IVF2	AHNK2_HUMAN	S	3151	ENSP00000353114:P3151S	ENSP00000353114:P3151S	P	-	1	0	AHNAK2	104483382	0.998000	0.40836	0.775000	0.31657	0.006000	0.05464	2.062000	0.41413	1.372000	0.46190	0.313000	0.20887	CCG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	816	0	0	0	1	0	7	816					A	105412337	G	A	105412337	3	1	21	1	0	0	0	0	1	0	0	0	415	1203	42	2	7940	2	AHNAK2	14	105412337	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	40943538	105412337	1937203	74	2669											
AHNAK2	113146	broad.mit.edu	37	chr14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccagccgcgcaccatCcagctttgctctcggggcct	9	20	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000333244.5	-	7	7995	c.7876G>A	c.(7876-7878)Gat>Aat	p.D2626N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2626						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7876-7878)Gat>Aat		AHNAK nucleoprotein 2							165	179	174					14																	105413912		1916	4110	6026	SO:0001583	missense	113146					nucleus		g.chr14:105413912C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7876G>A	14.37:g.105413912C>T	ENSP00000353114:p.Asp2626Asn					AHNAK2_ENST00000557457.1_Intron	p.D2626N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7995	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2626					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7876G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.120665	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	2.6	2.6	0.31112	.	.	.	.	.	T	0.02156	0.0067	M	0.70903	2.155	0.09310	N	1	P	0.40834	0.73	B	0.34385	0.181	T	0.42582	-0.9443	9	0.21540	T	0.41	.	4.3944	0.11356	0.0:0.7139:0.0:0.2861	.	2626	Q8IVF2	AHNK2_HUMAN	N	2626	ENSP00000353114:D2626N	ENSP00000353114:D2626N	D	-	1	0	AHNAK2	104484957	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.581000	0.05820	1.000000	0.39049	0.306000	0.20318	GAT		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1268	0	0	0	1	0	9	1268					T	105413912	C	T	105413912	3	4	21	1	0	0	0	0	1	0	0	0	415	855	30	2	9515	2	AHNAK2	14	105413912	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1575	105413912	1935628	75	2670											
C15orf48	84419	broad.mit.edu	37	chr15	45724278	45724279	+	Frame_Shift_Ins	INS	-	-	A													tttaattttagccttgatcgINSaaaaaaaaatccagaacctt					rs557217388		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:45724278_45724279insA	ENST00000344300.3	+	3	321_322	c.131_132insA	c.(130-135)cgaaaafs	p.RK44fs	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.RK44fs|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AGCCTTGATCGAAAAAAAAATC	0.322																																						ENST00000344300.3																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(130-132)caafs		chromosome 15 open reading frame 48			,	5,4259		0,5,2127					,	5.4	1			110	6,8248		0,6,4121	no	frameshift,frameshift	C15orf48	NM_197955.1,NM_032413.2	,	0,11,6248	A1A1,A1R,RR		0.0727,0.1173,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	84419					nucleus		g.chr15:45724278_45724279insA		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.140dupA	15.37:g.45724287_45724287dupA	ENSP00000341610:p.Arg44fs					RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.Q44fs	p.Q44fs	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	3	321_322	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	44						Frame_Shift_Ins	INS	ENST00000344300.3	37	c.131_132insA	CCDS10124.1																																																																																				0.322	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		7	352						7	352	---	---	---	---	A	45724279	-	A	45724278	7	5	21	1	0	1	1	0	0	0	0	0	1804	1058	37	0	141	0	C15orf48	15	45724278	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08		45724278	56807114	76	2671											
SPESP1	246777	broad.mit.edu	37	chr15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggagctagttacacAtggagacgcttcaactgaga	10	7	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(238-240)cAt>cGt		sperm equatorial segment protein 1							103	104	104					15																	69238112		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238112A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.239A>G	15.37:g.69238112A>G	ENSP00000312284:p.His80Arg					NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	p.H80R	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	393	+			80					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.239A>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	1.739	-0.492198	0.04322	.	.	ENSG00000258484	ENST00000310673	T	0.20738	2.05	4.62	-1.08	0.09936	.	0.742875	0.11558	N	0.552026	T	0.14614	0.0353	L	0.32530	0.975	0.09310	N	1	B	0.32160	0.358	B	0.33521	0.165	T	0.25779	-1.0122	10	0.41790	T	0.15	-0.9374	7.6284	0.28226	0.3289:0.5445:0.0:0.1265	.	80	Q6UW49	SPESP_HUMAN	R	80	ENSP00000312284:H80R	ENSP00000312284:H80R	H	+	2	0	SPESP1	67025166	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.104000	0.15313	-0.050000	0.13356	-0.313000	0.08912	CAT		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		9	414	0	0	0	1	0	9	414					G	69238112	A	G	69238112	3	3	21	1	0	0	0	0	1	0	0	0	15092	217	8	4	245	4	SPESP1	15	69238112	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	23513834	69238112	33293280	77	2672											
AKAP13	11214	broad.mit.edu	37	chr15	86124353	86124353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcccagagcctggtGccaccaggagcaagtctggc	16	13	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:86124353G>A	ENST00000394518.2	+	7	3149	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.V1018V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1018					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCCTGGTGCCACCAGGAG	0.572																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3052-3054)gtG>gtA		A kinase (PRKA) anchor protein 13							45	46	45					15																	86124353		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124353G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3054G>A	15.37:g.86124353G>A						AKAP13_ENST00000361243.2_Silent_p.V1018V	p.V1018V	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3149	+			1018					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3054G>A	CCDS32319.1																																																																																				0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	295	0	0	0	1	0	5	295					A	86124353	G	A	86124353	2	1	21	1	0	0	0	0	0	0	0	1	449	1306	46	2		2	AKAP13	15	86124353	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	16886241	86124353	16407039	78	2673											
IGFALS	3483	broad.mit.edu	37	chr16	1843655	1843655	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctttcctcagggccatcCtgcatgcagggcaggctgca	11	15	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000215539.3	-	0	109				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000415638.3_De_novo_Start_InFrame			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8								insulin-like growth factor binding protein, acid labile subunit							17	15	16					16																	1843655		2187	4294	6481			3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1843655C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1843655C>A						IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_De_novo_Start_InFrame		NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			0	78	-								B4DZY8|E9PGU3	Translation_Start_Site	SNP	ENST00000215539.3	37		CCDS10446.1																																																																																				0.716	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			5	31	1	0	0.00198382	1	0.00207171	5	31					A	1843655	C	A	1843655	1	1	21	1	0	1	0	0	0	0	0	0	7607	696	24	3		3	IGFALS	16	1843655	De_novo_Start_InFrame	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1843655	88511098	79	2674											
TMC5	79838	broad.mit.edu	37	chr16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaatatcaatcattgGcattctttgttactattggc	6	6	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000396229.2	+	13	2869	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2119-2121)gGc>gAc		transmembrane channel-like 5							247	228	234					16																	19488791		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488791G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2120G>A	16.37:g.19488791G>A	ENSP00000379531:p.Gly707Asp					TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D|CTA-363E6.6_ENST00000561762.1_RNA	p.G707D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2869	+			707					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2120G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537353	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69561	-0.41;-0.03;-0.03;-0.03;-0.03	4.33	4.33	0.51752	.	0.193755	0.43579	D	0.000559	T	0.81781	0.4895	M	0.81802	2.56	0.51233	D	0.99991	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.81914	0.992;0.954;0.982;0.94;0.981;0.995	T	0.82625	-0.0365	10	0.38643	T	0.18	-14.3434	16.7528	0.85490	0.0:0.0:1.0:0.0	.	655;390;461;461;707;707	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	D	655;707;707;707;461;390	ENSP00000441227:G655D;ENSP00000370822:G707D;ENSP00000379531:G707D;ENSP00000446274:G707D;ENSP00000219821:G461D	ENSP00000219821:G461D	G	+	2	0	TMC5	19396292	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.615000	0.83006	2.112000	0.64535	0.655000	0.94253	GGC		0.383	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		111	493	0	0	0	1	0	111	493					A	19488791	G	A	19488791	3	1	21	1	0	0	0	0	1	0	0	0	16040	1203	42	2	2476	2	TMC5	16	19488791	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	17645136	19488791	70865962	80	2675											
FOXF1	2294	broad.mit.edu	37	chr16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccggccagcgagttcatgTtcgaggagggctcctttcgg	14	12	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(394-396)Ttc>Ctc		forkhead box F1							64	79	74					16																	86544569		2197	4298	6495	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544569T>C	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.394T>C	16.37:g.86544569T>C	ENSP00000262426:p.Phe132Leu						p.F132L	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	437	+			132					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.394T>C	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887395	0.91814	.	.	ENSG00000103241	ENST00000262426	T	0.36340	1.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.45285	1.41	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.52563	-0.8559	10	0.87932	D	0	.	12.9875	0.58599	0.0:0.0:0.0:1.0	.	132	Q12946	FOXF1_HUMAN	L	132	ENSP00000262426:F132L	ENSP00000262426:F132L	F	+	1	0	FOXF1	85102070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	1.668000	0.50843	0.528000	0.53228	TTC		0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		139	444	0	0	0	1	0	139	444					C	86544569	T	C	86544569	3	2	21	1	0	0	0	0	1	0	0	0	6032	1725	60	4	396	4	FOXF1	16	86544569	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	67055778	86544569	3810184	81	2676											
ANKRD11	29123	broad.mit.edu	37	chr16	89350085	89350085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctccttgcagctctcCagggcgtcctttctgtcccg	10	17	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2863-2865)ctG>ctT		ankyrin repeat domain 11							79	86	83					16																	89350085		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350085C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2865G>T	16.37:g.89350085C>A						ANKRD11_ENST00000378330.2_Silent_p.L955L	p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3325	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	955			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2865G>T	CCDS32513.1																																																																																				0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		111	381	1	0	6.46527e-39	1	7.30664e-39	111	381					A	89350085	C	A	89350085	2	1	21	1	0	0	0	0	0	0	0	1	639	581	21	3		3	ANKRD11	16	89350085	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	2805516	89350085	1004668	82	2677											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	19	3	0	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(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						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42	42	42					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>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.376-1G>T	17.37:g.7578555C>A		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_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	34	79	1	0	1.414e-09	1	1.5451e-09	34	79					A	7578555	C	A	7578555	5	1	21	1	0	0	0	0	0	0	1	0	16434	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		7578555	73616655	83	2678											
MYH4	4622	broad.mit.edu	37	chr17	10352050	10352050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgactccttctgggaggcCtcaagttcagcctgagtttc	11	13	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:10352050C>A	ENST00000255381.2	-	32	4526	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1472					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGGAGGCCTCAAGTTCAG	0.448																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4414-4416)gaG>gaT		myosin, heavy chain 4, skeletal muscle							86	87	87					17																	10352050		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352050C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4416G>T	17.37:g.10352050C>A	ENSP00000255381:p.Glu1472Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1472D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			32	4526	-			1472						Missense_Mutation	SNP	ENST00000255381.2	37	c.4416G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545239	0.45280	.	.	ENSG00000141048	ENST00000255381	T	0.77229	-1.08	4.97	0.598	0.17512	Myosin tail (1);	0.000000	0.37577	U	0.002040	T	0.66819	0.2828	L	0.35249	1.045	0.38463	D	0.947264	B	0.28760	0.221	B	0.37015	0.239	T	0.56625	-0.7948	10	0.23302	T	0.38	.	9.7593	0.40522	0.0:0.6205:0.0:0.3795	.	1472	Q9Y623	MYH4_HUMAN	D	1472	ENSP00000255381:E1472D	ENSP00000255381:E1472D	E	-	3	2	MYH4	10292775	0.001000	0.12720	0.997000	0.53966	0.973000	0.67179	-1.559000	0.02162	0.222000	0.20900	0.561000	0.74099	GAG		0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	311	1	0	5.9392e-07	1	6.32237e-07	5	311					A	10352050	C	A	10352050	3	1	21	1	0	0	0	0	1	0	0	0	10078	680	24	3	1439	3	MYH4	17	10352050	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	2773495	10352050	70843160	84	2679											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-													ttggacacttgggggatgggAaaaaaaatggatctggatgg							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77	78	78		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	447						8	447	---	---	---	---	-	76046980	A	-	76046980	7	5	21	1	0	1	0	1	0	0	0	0	16394	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08	65694930	76046980	5148230	85	2680											
NOTUM	147111	broad.mit.edu	37	chr17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagctgctcagccacaCggtccacattcaggagcacc	8	17	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872). {ECO:0000305}.		extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(730-732)cGt>cAt		notum pectinacetylesterase homolog (Drosophila)							61	52	55					17																	79914915		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914915C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.731G>A	17.37:g.79914915C>T	ENSP00000387310:p.Arg244His						p.R244H	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1114	-	all_neural(118;0.0878)|Ovarian(332;0.12)		244	R -> L (in Ref. 1; AAH36872).				Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.731G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724700	0.30593	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	3.56	0.40772	.	0.302720	0.37483	N	0.002071	T	0.43255	0.1239	L	0.39245	1.2	0.43994	D	0.996693	B	0.28258	0.205	B	0.28139	0.086	T	0.44817	-0.9303	9	0.48119	T	0.1	.	5.0317	0.14413	0.1749:0.6566:0.0:0.1686	.	244	Q6P988	NOTUM_HUMAN	H	244	.	ENSP00000387310:R244H	R	-	2	0	NOTUM	77508205	0.958000	0.32768	0.998000	0.56505	0.611000	0.37282	2.080000	0.41586	2.055000	0.61198	0.313000	0.20887	CGT		0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		25	127	0	0	0	1	0	25	127					T	79914915	C	T	79914915	3	4	21	1	0	0	0	0	1	0	0	0	10594	536	19	1	779	1	NOTUM	17	79914915	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3867935	79914915	1280295	86	2681											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggttcttcctgtccaCggcctccagcttcattccaa	9	14	2	0	rs199523434		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000284898.6	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(601-603)Gtg>Atg		l(3)mbt-like 4 (Drosophila)							129	107	114					18																	6239823		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239823C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.601G>A	18.37:g.6239823C>T	ENSP00000284898:p.Val201Met					L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M	p.V201M			Q8NA19	LMBL4_HUMAN			9	801	-		Colorectal(10;0.0249)	201					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.601G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095859	0.56075	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.35	-1.99	0.07457	.	0.485871	0.17200	N	0.183141	T	0.65616	0.2708	H	0.95982	3.75	0.09310	N	1	D;D	0.89917	1.0;0.967	D;P	0.68483	0.958;0.636	T	0.60702	-0.7211	10	0.87932	D	0	.	10.7292	0.46087	0.0:0.4918:0.0:0.5082	.	201;201	Q8NA19;F8W9S8	LMBL4_HUMAN;.	M	201;201;201;14;201	ENSP00000382976:V201M;ENSP00000318543:V201M;ENSP00000284898:V201M;ENSP00000444774:V14M;ENSP00000382975:V201M	ENSP00000284898:V201M	V	-	1	0	L3MBTL4	6229823	0.017000	0.18338	0.002000	0.10522	0.857000	0.48899	0.514000	0.22786	-0.856000	0.04120	-0.469000	0.05056	GTG		0.463	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		5	318	0	0	0	1	0	5	318					T	6239823	C	T	6239823	3	4	21	1	0	0	0	0	1	0	0	0	8625	536	19	1	1318	1	L3MBTL4	18	6239823	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		6239823	71837425	87	2682											
MC5R	4161	broad.mit.edu	37	chr18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatctcaacctgaatgCcacagagggcaacctttcag	9	12	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(46-48)gCc>gTc		melanocortin 5 receptor							86	84	84					18																	13825811		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13825811C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.47C>T	18.37:g.13825811C>T	ENSP00000318077:p.Ala16Val						p.A16V	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	269	+			16					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.47C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916374	0.33815	.	.	ENSG00000176136	ENST00000324750	T	0.37235	1.21	5.3	3.51	0.40186	.	1.217370	0.05665	N	0.587595	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22173	-1.0224	10	0.49607	T	0.09	.	6.4409	0.21849	0.0:0.6892:0.1497:0.161	.	16	P33032	MC5R_HUMAN	V	16	ENSP00000318077:A16V	ENSP00000318077:A16V	A	+	2	0	MC5R	13815811	0.001000	0.12720	0.670000	0.29842	0.921000	0.55340	0.478000	0.22212	0.615000	0.30124	0.455000	0.32223	GCC		0.438	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		6	365	0	0	0	1	0	6	365					T	13825811	C	T	13825811	3	4	21	1	0	0	0	0	1	0	0	0	9408	739	26	2	49	2	MC5R	18	13825811	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	7585988	13825811	64251437	88	2683											
DSG3	1830	broad.mit.edu	37	chr18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagacagtcagaacaatcGgtgtgagatgccacgcagct	11	10	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1723-1725)cGg>cAg		desmoglein 3							151	136	141					18																	29049139		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049139G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1724G>A	18.37:g.29049139G>A	ENSP00000257189:p.Arg575Gln						p.R575Q	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1807	+			575					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1724G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462788	0.26248	.	.	ENSG00000134757	ENST00000257189	T	0.58060	0.36	5.95	-11.9	0.00025	.	1.487420	0.04727	N	0.420484	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05852	-1.0860	10	0.14252	T	0.57	.	8.0923	0.30807	0.1856:0.0:0.3465:0.4679	.	575	P32926	DSG3_HUMAN	Q	575	ENSP00000257189:R575Q	ENSP00000257189:R575Q	R	+	2	0	DSG3	27303137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.230000	0.01207	-3.245000	0.00206	-1.911000	0.00521	CGG		0.527	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		8	513	0	0	0	1	0	8	513					A	29049139	G	A	29049139	3	1	21	1	0	0	0	0	1	0	0	0	4794	1116	39	1	1770	1	DSG3	18	29049139	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	15223328	29049139	49028109	89	2684											
ST8SIA5	29906	broad.mit.edu	37	chr18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagagatgttcatcgCccatttgcacatctggaggc	11	12	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(280-282)Gcg>Tcg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							228	153	178					18																	44272163		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44272163C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.280G>T	18.37:g.44272163C>A	ENSP00000321343:p.Ala94Ser					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000590497.1_5'UTR	p.A94S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			3	940	-			94					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.280G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627958	0.28978	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.43294	0.97;0.95;1.57	4.89	4.02	0.46733	.	0.249281	0.40064	N	0.001183	T	0.30823	0.0777	L	0.29908	0.895	0.34705	D	0.727107	B;B;B;B	0.16166	0.008;0.006;0.001;0.016	B;B;B;B	0.18561	0.017;0.004;0.003;0.022	T	0.32534	-0.9903	10	0.23302	T	0.38	.	13.3123	0.60386	0.0:0.923:0.0:0.077	.	63;130;63;94	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	S	94;130;63	ENSP00000321343:A94S;ENSP00000445492:A130S;ENSP00000443683:A63S	ENSP00000321343:A94S	A	-	1	0	ST8SIA5	42526161	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.591000	0.67536	1.199000	0.43173	0.555000	0.69702	GCG		0.522	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		57	229	1	0	4.45325e-31	1	4.96478e-31	57	229					A	44272163	C	A	44272163	3	1	21	1	0	0	0	0	1	0	0	0	15287	739	26	3	870	3	ST8SIA5	18	44272163	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	15223024	44272163	33805085	90	2685											
MALT1	10892	broad.mit.edu	37	chr18	56401610	56401610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatattgtgtttggatatgCcacgtaagaacatttgatgt	9	5	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:56401610C>T	ENST00000348428.3	+	12	1730	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.A480V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	491	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTGGATATGCCACGTAAGAA	0.403			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1471-1473)gCc>gTc		mucosa associated lymphoid tissue lymphoma translocation gene 1							133	114	120					18																	56401610		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56401610C>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1472C>T	18.37:g.56401610C>T	ENSP00000319279:p.Ala491Val					MALT1_ENST00000345724.3_Missense_Mutation_p.A480V|RP11-126O1.4_ENST00000588835.1_RNA	p.A491V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			12	1730	+			491			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1472C>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609673	0.96637	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.56611	0.45;0.45	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.046173	0.85682	D	0.000000	T	0.78168	0.4241	M	0.88570	2.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.81450	-0.0927	10	0.87932	D	0	.	19.0095	0.92867	0.0:1.0:0.0:0.0	.	480;491	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	491;480	ENSP00000319279:A491V;ENSP00000304161:A480V	ENSP00000304161:A480V	A	+	2	0	MALT1	54552590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.779000	0.95612	0.650000	0.86243	GCC		0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			4	218	0	0	0	1	0	4	218					T	56401610	C	T	56401610	3	4	21	1	0	0	0	0	1	0	0	0	9243	739	26	2	1518	2	MALT1	18	56401610	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	12129447	56401610	21675638	91	2686											
TMX3	54495	broad.mit.edu	37	chr18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggccacaccatggcGcataaaacttgttttaaaaa	6	9	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(148-150)gCg>gTg		thioredoxin-related transmembrane protein 3							55	49	51					18																	66377374		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66377374G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.149C>T	18.37:g.66377374G>A	ENSP00000299608:p.Ala50Val					TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			4	465	-			50			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.149C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916459	0.92249	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.10192	2.9;2.9;2.9	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61352	-0.7080	10	0.87932	D	0	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	50;50;50	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	50	ENSP00000299608:A50V;ENSP00000444954:A50V;ENSP00000402605:A50V	ENSP00000299608:A50V	A	-	2	0	TMX3	64528354	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.738000	0.98835	2.619000	0.88677	0.563000	0.77884	GCG		0.323	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		4	181	0	0	0	1	0	4	181					A	66377374	G	A	66377374	3	1	21	1	0	0	0	0	1	0	0	0	16320	1087	38	1	1267	1	TMX3	18	66377374	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	9975764	66377374	11699874	92	2687											
ATP8B3	148229	broad.mit.edu	37	chr19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagggcggtccagtaCttgatgataagaatgacctg	12	9	0	4			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000310127.6	-	27	3649	c.3411G>T	c.(3409-3411)aaG>aaT	p.K1137N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.K1147N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3439-3441)aaG>aaT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							39	47	44					19																	1785279		2190	4290	6480	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785279C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3411G>T	19.37:g.1785279C>A	ENSP00000311336:p.Lys1137Asn					ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.K1137N	p.K1147N			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3674	-		Hepatocellular(1079;0.137)	1137					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3441G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345599	0.41498	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.88664	-2.41;-2.41;-2.41	4.49	-0.244	0.13031	.	0.488846	0.21162	N	0.079130	D	0.83594	0.5288	L	0.28694	0.88	0.21604	N	0.999627	D;D	0.54964	0.961;0.969	P;P	0.52159	0.617;0.691	T	0.75068	-0.3448	10	0.45353	T	0.12	.	5.2161	0.15344	0.1426:0.6161:0.0:0.2414	.	1137;1100	O60423;Q7Z485	AT8B3_HUMAN;.	N	1137;1147;1100	ENSP00000311336:K1137N;ENSP00000443574:K1147N;ENSP00000437115:K1100N	ENSP00000311336:K1137N	K	-	3	2	ATP8B3	1736279	0.001000	0.12720	0.070000	0.20053	0.053000	0.15095	-0.307000	0.08167	-0.219000	0.10003	-0.136000	0.14681	AAG		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		15	77	1	0	4.7546e-09	1	5.12751e-09	15	77					A	1785279	C	A	1785279	3	1	21	1	0	0	0	0	1	0	0	0	1197	564	20	3	503	3	ATP8B3	19	1785279	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1785279	57343704	93	2688											
EEF2	1938	broad.mit.edu	37	chr19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgatgggctccacGtagcggcccatcatcaagat	9	14	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1369-1371)taC>taG		eukaryotic translation elongation factor 2							43	39	40					19																	3980040		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980040G>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>G	19.37:g.3980040G>C	ENSP00000307940:p.Tyr457*						p.Y457*	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1459	-		Hepatocellular(1079;0.137)	457					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.1371C>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611568	0.96637	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		18	110	0	0	0	1	0	18	110					C	3980040	G	C	3980040	4	2	21	1	0	0	0	0	0	1	0	0	4945	1140	40	5	1229	5	EEF2	19	3980040	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2194761	3980040	55148943	94	2689											
C3	718	broad.mit.edu	37	chr19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatgaggtgcttcagccGttccgcgtcgacggcatcct	11	14	1	1	rs370052728		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCTTCAGCCGTTCCGCGTCG	0.622																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2995-2997)Cgg>Tgg		complement component 3							74	61	65					19																	6694601		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694601G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2995C>T	19.37:g.6694601G>A	ENSP00000245907:p.Arg999Trp						p.R999W	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3087	-			999					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2995C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913948	0.52546	.	.	ENSG00000125730	ENST00000245907	T	0.37584	1.19	5.67	4.61	0.57282	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.519800	0.21650	N	0.071200	T	0.32704	0.0838	N	0.08118	0	0.20926	N	0.999829	D	0.76494	0.999	P	0.58620	0.842	T	0.13683	-1.0500	10	0.72032	D	0.01	.	10.8984	0.47036	0.0:0.0:0.6435:0.3565	.	999	P01024	CO3_HUMAN	W	999	ENSP00000245907:R999W	ENSP00000245907:R999W	R	-	1	2	C3	6645601	0.290000	0.24343	0.988000	0.46212	0.150000	0.21749	1.655000	0.37345	2.693000	0.91896	0.650000	0.86243	CGG		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		29	227	0	0	0	1	0	29	227					A	6694601	G	A	6694601	3	1	21	1	0	0	0	0	1	0	0	0	2211	1144	40	1	2068	1	C3	19	6694601	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2714561	6694601	52434382	95	2690											
ACTL9	284382	broad.mit.edu	37	chr19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggcagccaccaccacGtgggtctcggctggcagagc	16	14	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1099-1101)caC>caG		actin-like 9							25	28	27					19																	8807951		2203	4298	6501	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807951G>C		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1101C>G	19.37:g.8807951G>C	ENSP00000316674:p.His367Gln						p.H367Q	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1221	-			367					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1101C>G	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	3.006	-0.204896	0.06180	.	.	ENSG00000181786	ENST00000324436	T	0.07444	3.19	4.51	2.29	0.28610	.	0.738936	0.11482	U	0.559628	T	0.05227	0.0139	N	0.17564	0.495	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.38243	-0.9670	10	0.87932	D	0	.	3.6914	0.08347	0.088:0.316:0.4331:0.1629	.	367	Q8TC94	ACTL9_HUMAN	Q	367	ENSP00000316674:H367Q	ENSP00000316674:H367Q	H	-	3	2	ACTL9	8668951	0.001000	0.12720	0.084000	0.20598	0.088000	0.18126	0.676000	0.25247	0.604000	0.29930	-0.482000	0.04802	CAC		0.677	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		28	156	0	0	0	1	0	28	156					C	8807951	G	C	8807951	3	2	21	1	0	0	0	0	1	0	0	0	203	1136	40	5	153	5	ACTL9	19	8807951	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2113350	8807951	50321032	96	2691											
ZNF709	163051	broad.mit.edu	37	chr19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgactgaacgttttccCgcattctttacatttatagg	9	8	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(688-690)Ggg>Agg		zinc finger protein 709							102	106	104					19																	12576048		2197	4300	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576048C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.688G>A	19.37:g.12576048C>T	ENSP00000380840:p.Gly230Arg					ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R|CTD-3105H18.18_ENST00000598753.1_Intron	p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	859	-			230					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.688G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397133	0.62177	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.03524	3.9;3.9	2.4	0.0633	0.14348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34676	N	0.003765	T	0.12732	0.0309	M	0.77616	2.38	0.30398	N	0.780325	D	0.89917	1.0	D	0.78314	0.991	T	0.01972	-1.1237	10	0.66056	D	0.02	.	6.0058	0.19544	0.0:0.6798:0.1959:0.1243	.	230	Q8N972	ZN709_HUMAN	R	230	ENSP00000380840:G230R;ENSP00000404127:G230R	ENSP00000404127:G230R	G	-	1	0	ZNF709;CTD-2192J16.17	12437048	0.059000	0.20769	0.201000	0.23476	0.396000	0.30629	1.548000	0.36201	0.097000	0.17492	0.313000	0.20887	GGG		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		126	564	0	0	0	1	0	126	564					T	12576048	C	T	12576048	3	4	21	1	0	0	0	0	1	0	0	0	18166	652	23	1	1241	1	ZNF709	19	12576048	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3768097	12576048	46552935	97	2692											
ZNF790	388536	broad.mit.edu	37	chr19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccattttttggtaataacttCttggtctgacacctcgactg	7	10	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(253-255)aaG>aaT		zinc finger protein 790							50	51	51					19																	37310991		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310991C>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.255G>T	19.37:g.37310991C>A	ENSP00000349161:p.Lys85Asn					CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	p.K85N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	375	-	Esophageal squamous(110;0.183)		85						Missense_Mutation	SNP	ENST00000356725.4	37	c.255G>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851037	0.17034	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.07327	3.2;6.04;5.63	3.08	3.08	0.35506	.	.	.	.	.	T	0.09862	0.0242	L	0.50333	1.59	0.09310	N	1	P	0.41313	0.745	B	0.41202	0.35	T	0.16482	-1.0401	9	0.52906	T	0.07	.	7.5937	0.28035	0.2541:0.7459:0.0:0.0	.	85	Q6PG37	ZN790_HUMAN	N	85	ENSP00000349161:K85N;ENSP00000435944:K85N;ENSP00000433389:K85N	ENSP00000349161:K85N	K	-	3	2	ZNF790	42002831	0.000000	0.05858	0.115000	0.21578	0.254000	0.26022	0.138000	0.16016	1.708000	0.51301	0.484000	0.47621	AAG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		11	354	1	0	1.41608e-15	1	1.55769e-15	11	354					A	37310991	C	A	37310991	3	1	21	1	0	0	0	0	1	0	0	0	18215	912	32	3	1659	3	ZNF790	19	37310991	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	24734943	37310991	21817992	98	2693											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	614	0	0	0	1	0	6	614					A	40395919	G	A	40395919	3	1	21	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	3084928	40395919	18733064	99	2694											
EXOSC5	56915	broad.mit.edu	37	chr19	41903203	41903203	+	Frame_Shift_Del	DEL	T	T	-													tgttccattttcagcacggaTtttggcgtcagtatgcgtct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:41903203delT	ENST00000221233.4	-	1	181	c.31delA	c.(31-33)atcfs	p.I11fs	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|BCKDHA_ENST00000457836.2_5'Flank	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	11					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAGCACGGATTTTGGCGTCA	0.647																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(31-33)tcfs		exosome component 5							147	127	133					19																	41903203		2203	4300	6503	SO:0001589	frameshift_variant	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903203delT	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.31delA	19.37:g.41903203delT	ENSP00000221233:p.Ile11fs					CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs	p.I11fs	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			1	181	-			11					Q32Q81|Q8NG16|Q96I89	Frame_Shift_Del	DEL	ENST00000221233.4	37	c.31delA	CCDS12580.1																																																																																				0.647	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		7	674						7	674	---	---	---	---	-	41903203	T	-	41903203	7	5	21	1	0	1	0	1	0	0	0	0	5336	1493	52	0	700	0	EXOSC5	19	41903203	Frame_Shift_Del	DEL	T	TCGA-2L-AAQL-01A-11D-A38G-08	1507284	41903203	17225780	100	2695											
PSG7	5676	broad.mit.edu	37	chr19	43439844	43439845	+	RNA	INS	-	-	G													agtagaagaacatccttcccINSctcggaaacttttggtggct					rs370231373		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43439844_43439845insG	ENST00000406070.2	-	0	237_238				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.485																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439844_43439845insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439844_43439845insG						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	237_238	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.485	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		255	1107						255	1107	---	---	---	---	G	43439845	-	G	43439844	6	5	21	0	1	1	1	0	0	0	0	0	12707	623	22	0		0	PSG7	19	43439844	RNA	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	1536641	43439844	15689139	101	2696											
PSG2	5670	broad.mit.edu	37	chr19	43585321	43585322	+	Frame_Shift_Ins	INS	-	-	G													agtagaagaacatccttcccINSctcggaaacttttggtggct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43585321_43585322insG	ENST00000406487.1	-	2	239_240	c.141_142insC	c.(139-144)gaggggfs	p.G48fs	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	48	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				ACATCCTTCCCCTCGGAAACTT	0.48																																						ENST00000406487.1																			0				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						c.(139-144)gaggaafs		pregnancy specific beta-1-glycoprotein 2																																				SO:0001589	frameshift_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585321_43585322insG		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.141_142insC	19.37:g.43585321_43585322insG	ENSP00000385706:p.Gly48fs						p.EE47fs	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	239_240	-		Prostate(69;0.00682)	47			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Frame_Shift_Ins	INS	ENST00000406487.1	37	c.141_142insC	CCDS12616.1																																																																																				0.48	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		11	1624						11	1624	---	---	---	---	G	43585322	-	G	43585321	7	5	21	1	0	1	1	0	0	0	0	0	12702	623	22	0	881	0	PSG2	19	43585321	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	145477	43585321	15543662	102	2697											
SYMPK	8189	broad.mit.edu	37	chr19	46357673	46357673	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaggtggtcatgccatcGatgcccggcccctcctcttg	11	15	3	1	rs374626694		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:46357673G>A	ENST00000245934.7	-	2	325	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	27	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCATGCCATCGATGCCCGGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20064	0.0		0.0	False		,,,				2504	0.001					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(79-81)atC>atT		symplekin		G		0,4284		0,0,2142	62	65	64		81	-8.7	0.8	19		64	1,8475		0,1,4237	no	coding-synonymous	SYMPK	NM_004819.2		0,1,6379	AA,AG,GG		0.0118,0.0,0.0078		27/1275	46357673	1,12759	2142	4238	6380	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46357673G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.81C>T	19.37:g.46357673G>A							p.I27I	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	2	325	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	27			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.81C>T	CCDS12676.2																																																																																				0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	188	0	0	0	1	0	4	188					A	46357673	G	A	46357673	2	1	21	1	0	0	0	0	0	0	0	1	15491	1048	37	1		1	SYMPK	19	46357673	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2772352	46357673	12771310	103	2698											
ZNF701	55762	broad.mit.edu	37	chr19	53085864	53085864	+	Frame_Shift_Del	DEL	A	A	-													caacgaatttcctgtaggccAaaaactcgtatttctaataa							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:53085864delA	ENST00000540331.1	+	5	975	c.750delA	c.(748-750)ccafs	p.P250fs	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CCTGTAGGCCAAAAACTCGTA	0.383																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(748-750)ccfs		zinc finger protein 701							49	50	50					19																	53085864		2203	4300	6503	SO:0001589	frameshift_variant	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085864delA	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.750delA	19.37:g.53085864delA	ENSP00000444339:p.Pro250fs					ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs	p.P250fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	975	+			184					A2RRM8|B9EGF2|F5GZM6|Q66K42	Frame_Shift_Del	DEL	ENST00000540331.1	37	c.750delA	CCDS54311.1																																																																																				0.383	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		9	607						9	607	---	---	---	---	-	53085864	A	-	53085864	7	5	21	1	0	1	0	1	0	0	0	0	18158	117	5	0	764	0	ZNF701	19	53085864	Frame_Shift_Del	DEL	A	TCGA-2L-AAQL-01A-11D-A38G-08	6728191	53085864	6043119	104	2699											
SIGLEC1	6614	broad.mit.edu	37	chr20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccgtcgggcacctccaCgtcggcagggaagctgaaga	15	12	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACCTCCACGTCGGCAGGG	0.672																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(145-147)Gtg>Atg		sialic acid binding Ig-like lectin 1, sialoadhesin							23	18	20					20																	3687258		2202	4299	6501	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3687258C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "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"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.145G>A	20.37:g.3687258C>T	ENSP00000341141:p.Val49Met					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			2	144	-			49			Ig-like V-type.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.145G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926139	0.52759	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22336	1.96;1.96	5.01	1.48	0.22813	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.207799	0.24185	N	0.040780	T	0.36908	0.0984	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.09207	-1.0685	10	0.62326	D	0.03	.	3.7683	0.08632	0.0:0.5395:0.1965:0.2641	.	49;49	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	49	ENSP00000341141:V49M;ENSP00000202578:V49M	ENSP00000202578:V49M	V	-	1	0	SIGLEC1	3635258	0.133000	0.22466	0.002000	0.10522	0.058000	0.15608	0.940000	0.28992	0.416000	0.25844	0.563000	0.77884	GTG		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	64	0	0	0	1	0	3	64					T	3687258	C	T	3687258	3	4	21	1	0	0	0	0	1	0	0	0	14355	536	19	1	5064	1	SIGLEC1	20	3687258	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		3687258	59338262	105	2700											
C20orf26	26074	broad.mit.edu	37	chr20	20056245	20056245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccactatcctcagctgcaCgttcgcaaagccaggtacag	9	14	1	0	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478													C|||	16	0.00319489	0.0121	0.0	5008	,	,		19569	0.0		0.0	False		,,,				2504	0.0					ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(550-552)caC>caT		chromosome 20 open reading frame 26		C	,	18,4388	28.1+/-56.4	0,18,2185	140	129	133		552,552	-0.5	0.1	20	dbSNP_132	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,18,6485	TT,TC,CC		0.0,0.4085,0.1384	,	184/471,184/1238	20056245	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20056245C>T																												ENST00000245957.5:c.552C>T	20.37:g.20056245C>T						C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H	p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	628	+			184					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.552C>T	CCDS33447.1																																																																																				0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			92	437	0	0	0	1	0	92	437					T	20056245	C	T	20056245	2	4	21	1	0	0	0	0	0	0	0	1	2113	535	19	1		1	C20orf26	20	20056245	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	16368987	20056245	42969275	106	2701											
MMP9	4318	broad.mit.edu	37	chr20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctttcctcctggccccgGcattcagggagacgcccatt	10	17	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTGGCCCCGGCATTCAGGGA	0.602																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(589-591)gGc>gAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						86	80	82					20																	44639630		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639630G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp						p.G197D	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			4	609	+		Myeloproliferative disorder(115;0.0122)	197					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.590G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			7	398	0	0	0	1	0	7	398					A	44639630	G	A	44639630	3	1	21	1	0	0	0	0	1	0	0	0	9710	1203	42	2	604	2	MMP9	20	44639630	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	24583385	44639630	18385890	107	2702											
RNF114	55905	broad.mit.edu	37	chr20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaagatccggtcccacGtggctacttgttccaaatac	8	13	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(319-321)Gtg>Atg		ring finger protein 114							159	128	138					20																	48561946		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48561946G>A	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.319G>A	20.37:g.48561946G>A	ENSP00000244061:p.Val107Met						p.V107M	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			3	321	+			107					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.319G>A	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496437	0.44352	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.81078	-1.45	5.97	5.02	0.67125	.	0.234988	0.44688	D	0.000431	T	0.73984	0.3657	L	0.46157	1.445	0.26976	N	0.965477	P;B	0.52842	0.956;0.282	B;B	0.43508	0.422;0.041	T	0.70263	-0.4920	10	0.42905	T	0.14	-6.465	9.5071	0.39053	0.0741:0.0:0.7856:0.1403	.	107;107	Q9Y508-2;Q9Y508	.;RN114_HUMAN	M	107	ENSP00000244061:V107M	ENSP00000244061:V107M	V	+	1	0	RNF114	47995353	1.000000	0.71417	0.977000	0.42913	0.934000	0.57294	4.718000	0.61930	2.833000	0.97629	0.585000	0.79938	GTG		0.458	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		40	176	0	0	0	1	0	40	176					A	48561946	G	A	48561946	3	1	21	1	0	0	0	0	1	0	0	0	13479	1145	40	1	329	1	RNF114	20	48561946	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	3922316	48561946	14463574	108	2703											
ARFGAP1	55738	broad.mit.edu	37	chr20	61906986	61906986	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtcagggtgcaggatgaGaacaacgtaagcctctgccc	13	10	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:61906986G>T	ENST00000370283.4	+	2	194	c.54G>T	c.(52-54)gaG>gaT	p.E18D	ARFGAP1_ENST00000547204.1_5'UTR|NKAIN4_ENST00000370307.2_5'Flank|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.E18D	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	18	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGCAGGATGAGAACAACGTAA	0.517																																						ENST00000370275.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(52-54)gaG>gaT		ADP-ribosylation factor GTPase activating protein 1							56	54	54					20																	61906986		2202	4299	6501	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61906986G>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.54G>T	20.37:g.61906986G>T	ENSP00000359306:p.Glu18Asp					ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E18D|ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D	p.E18D			Q8N6T3	ARFG1_HUMAN			2	146	+	all_cancers(38;1.59e-09)		18			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.54G>T	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.379|2.379	-0.342631|-0.342631	0.05243|0.05243	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188|ENST00000519604	T;T;T;T;T;T|T	0.46819|0.46063	0.86;0.86;0.86;0.86;0.86;0.86|0.88	4.78|4.78	0.0115|0.0115	0.14087|0.14087	.|.	0.057039|.	0.64402|.	N|.	0.000002|.	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	B;B;B|B	0.10296|0.29955	0.003;0.0;0.0|0.263	B;B;B|P	0.17098|0.46208	0.017;0.009;0.005|0.507	T|T	0.32534|0.32534	-0.9903|-0.9903	10|9	0.21014|0.87932	T|D	0.42|0	-0.3684|-0.3684	5.8773|5.8773	0.18836|0.18836	0.328:0.1544:0.5176:0.0|0.328:0.1544:0.5176:0.0	.|.	18;18;18|2	B7ZBI2;Q8N6T3;Q8N6T3-2|E7EV62	.;ARFG1_HUMAN;.|.	D|I	18|2	ENSP00000359306:E18D;ENSP00000428355:E18D;ENSP00000359298:E18D;ENSP00000314615:E18D;ENSP00000430929:E18D;ENSP00000449515:E18D|ENSP00000430500:R2I	ENSP00000314615:E18D|ENSP00000430500:R2I	E|R	+|+	3|2	2|0	ARFGAP1|ARFGAP1	61377431|61377431	0.998000|0.998000	0.40836|0.40836	0.900000|0.900000	0.35374|0.35374	0.053000|0.053000	0.15095|0.15095	0.412000|0.412000	0.21131|0.21131	-0.161000|-0.161000	0.10983|0.10983	-0.379000|-0.379000	0.06801|0.06801	GAG|AGA		0.517	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		4	141	1	0	0.217242	1	0.217242	4	141					T	61906986	G	T	61906986	3	4	21	1	0	0	0	0	1	0	0	0	849	933	33	3	56	3	ARFGAP1	20	61906986	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	13345040	61906986	1118534	109	2704											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			10	1232						10	1232	---	---	---	---	-	34799292	T	-	34799292	7	5	21	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-2L-AAQL-01A-11D-A38G-08		34799292	13330603	110	2705											
ATP5O	539	broad.mit.edu	37	chr21	35281465	35281465	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcactttaatggaacgcttCacatagggattcaaaacaga	7	8	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:35281465C>T	ENST00000290299.2	-	4	465	c.249G>A	c.(247-249)gtG>gtA	p.V83V	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E32K	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	83					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TGGAACGCTTCACATAGGGAT	0.368																																						ENST00000429238.1																			0											c.(94-96)Gaa>Aaa									99	89	93					21																	35281465		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:35281465C>T	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	850	protein-coding gene	gene with protein product	"oligomycin sensitivity conferring protein"	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.249G>A	21.37:g.35281465C>T						ATP5O_ENST00000290299.2_Silent_p.V83V	p.E32K							2	93	-								B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	c.94G>A	CCDS13634.1	.	.	.	.	.	.	.	.	.	.	C	7.061	0.566329	0.13560	.	.	ENSG00000249209	ENST00000429238	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-28.5225	0.4541	0.00506	0.2592:0.2488:0.266:0.226	.	.	.	.	K	32	.	.	E	-	1	0	AP000304.12	34203335	0.001000	0.12720	0.002000	0.10522	0.717000	0.41224	-1.870000	0.01641	-2.262000	0.00690	-0.188000	0.12872	GAA		0.368	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	NM_001697		63	269	0	0	0	1	0	63	269					T	35281465	C	T	35281465	2	4	21	1	0	0	0	0	0	0	0	1	1163	813	29	2		2	ATP5O	21	35281465	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	482173	35281465	12848430	111	2706											
MED15	51586	broad.mit.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcaggcggcgctaCagcagcagcagcagcagcag							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	167						7	167	---	---	---	---	-	20918819	CAG	-	20918817	7	5	21	1	0	1	0	1	0	0	0	0	9474	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-2L-AAQL-01A-11D-A38G-08		20918817	30385749	112	2707											
PLXNB2	23654	broad.mit.edu	37	chr22	50728171	50728171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcagccacggaggcGgccaggcaggtgccaaaggc	17	14	0	0	rs369882286		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16198	0.0		0.0	False		,,,				2504	0.001					ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(841-843)gcC>gcT		plexin B2		G		0,3956		0,0,1978	29	33	32		843	-9.2	0	22		32	1,8299		0,1,4149	no	coding-synonymous	PLXNB2	NM_012401.3		0,1,6127	AA,AG,GG		0.012,0.0,0.0082		281/1839	50728171	1,12255	1978	4150	6128	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728171G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.843C>T	22.37:g.50728171G>A						PLXNB2_ENST00000359337.4_Silent_p.A281A	p.A281A			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	983	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	281			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.843C>T	CCDS43035.1																																																																																				0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		24	138	0	0	0	1	0	24	138					A	50728171	G	A	50728171	2	1	21	1	0	0	0	0	0	0	0	1	12166	1103	39	1		1	PLXNB2	22	50728171	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	29809354	50728171	576395	113	2708											
CNKSR2	22866	broad.mit.edu	37	chrX	21627423	21627423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctggaggattctgtcTtctctgactccgcggccatc	10	15	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000379510.3	+	20	2416	c.2380T>C	c.(2380-2382)Ttc>Ctc	p.F794L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F764L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2290-2292)Ttc>Ctc		connector enhancer of kinase suppressor of Ras 2							78	75	76					X																	21627423		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627423T>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2380T>C	X.37:g.21627423T>C	ENSP00000368824:p.Phe794Leu					CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F794L	p.F764L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2770	+			794					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2290T>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577480	0.28180	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.17691	2.52;2.26;2.27;2.55	5.51	5.51	0.81932	.	0.161421	0.56097	D	0.000028	T	0.17619	0.0423	L	0.60455	1.87	0.47037	D	0.999295	B;B;B;B	0.18610	0.0;0.0;0.008;0.029	B;B;B;B	0.16289	0.002;0.001;0.015;0.008	T	0.06006	-1.0851	10	0.08599	T	0.76	-27.16	14.6111	0.68517	0.0:0.0:0.0:1.0	.	764;745;386;794	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	764;745;794;794	ENSP00000397906:F764L;ENSP00000444633:F745L;ENSP00000279451:F794L;ENSP00000368824:F794L	ENSP00000279451:F794L	F	+	1	0	CNKSR2	21537344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.187000	0.58344	1.831000	0.53308	0.417000	0.27973	TTC		0.567	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		5	199	0	0	0	1	0	5	199					C	21627423	T	C	21627423	3	2	21	1	0	0	0	0	1	0	0	0	3616	1609	56	4	2458	4	CNKSR2	23	21627423	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08		21627423	133643137	114	2709											
TAF1	6872	broad.mit.edu	37	chrX	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-													ttgctttgtttaatttcagaAagaagacaaattagctcgct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000373790.4	+	30	4502_4504	c.4451_4453delAAG	c.(4450-4455)aaagaa>aaa	p.E1485del	TAF1_ENST00000449580.1_Splice_Site_p.E1485del|TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000423759.1_Splice_Site_p.E1506del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1485	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.e30-1		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa																																				SO:0001630	splice_region_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70642968_70642970delAAG		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4450-1AAG>-	X.37:g.70642971_70642973delAAG						TAF1_ENST00000276072.3_Splice_Site_p.KE1505_splice|TAF1_ENST00000423759.1_Splice_Site_p.KE1505_splice|TAF1_ENST00000373790.4_Splice_Site_p.KE1484_splice	p.KE1484_splice			P21675	TAF1_HUMAN			30	4502_4504	+	Renal(35;0.156)	all_lung(315;0.000321)	1484			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Splice_Site	DEL	ENST00000373790.4	37	c.4449_splice	CCDS35325.1																																																																																				0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	In_Frame_Del	95	250						95	250	---	---	---	---	-	70642970	AAG	-	70642968	8	5	21	1	0	1	0	1	0	0	1	0	15565	28	1	0	4632	0	TAF1	23	70642968	Splice_Site	DEL	AAG	TCGA-2L-AAQL-01A-11D-A38G-08	49015545	70642968	84627592	115	2710											
ACTRT1	139741	broad.mit.edu	37	chrX	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaacctcgggcacttGgtacagctcatccccaaagt	8	12	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(769-771)Caa>Taa		actin-related protein T1							125	114	118					X																	127185417		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185417G>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.769C>T	X.37:g.127185417G>A	ENSP00000360165:p.Gln257*						p.Q257*	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	965	-			257					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.769C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811660	0.50527	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.58	0.589	0.17452	.	0.537891	0.16370	N	0.217347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9033	0.41362	0.0:0.0:0.4788:0.5212	.	.	.	.	X	257	.	ENSP00000360165:Q257X	Q	-	1	0	ACTRT1	127013098	1.000000	0.71417	0.001000	0.08648	0.023000	0.10783	1.058000	0.30504	0.001000	0.14605	0.600000	0.82982	CAA		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	416	0	0	0	1	0	6	416					A	127185417	G	A	127185417	4	1	21	1	0	0	0	0	0	1	0	0	218	1357	47	2	365	2	ACTRT1	23	127185417	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	56542449	127185417	28085143	116	2711											
BCORL1	63035	broad.mit.edu	37	chrX	129185988	129185988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagtgtcagtgtcccGcgggtaagtgtccgagagat	13	11	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000218147.7	+	12	5047	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1617H|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGTGTCCCGCGGGTAAGTG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14595	0.0		0.0	False		,,,				2504	0.001					ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4849-4851)cGc>cAc		BCL6 corepressor-like 1							110	87	95					X																	129185988		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129185988G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4850G>A	X.37:g.129185988G>A	ENSP00000218147:p.Arg1617His					BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1617H	p.R1617H	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			11	4894	+			1617					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4850G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798032	0.31777	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.40476	1.03;1.32;1.04;1.03;1.37	5.53	2.58	0.30949	.	0.759301	0.10829	N	0.629586	T	0.36220	0.0959	L	0.47716	1.5	0.32970	D	0.522206	B;B	0.24651	0.108;0.023	B;B	0.18871	0.023;0.006	T	0.42310	-0.9459	10	0.66056	D	0.02	-3.2989	9.7559	0.40502	0.2547:0.0:0.7453:0.0	.	1691;1617	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	H	1617;1691;1487;1617;1291	ENSP00000218147:R1617H;ENSP00000307541:R1691H;ENSP00000352253:R1487H;ENSP00000437775:R1617H;ENSP00000399483:R1291H	ENSP00000218147:R1617H	R	+	2	0	BCORL1	129013669	0.988000	0.35896	0.628000	0.29241	0.404000	0.30871	2.792000	0.47837	0.420000	0.25954	0.513000	0.50165	CGC		0.527	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		61	231	0	0	0	1	0	61	231					A	129185988	G	A	129185988	3	1	21	1	0	0	0	0	1	0	0	0	1388	1087	38	1	5118	1	BCORL1	23	129185988	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2000571	129185988	26084572	117	2712											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	242						8	242	---	---	---	---	-	149639635	GCA	-	149639633	7	5	21	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-2L-AAQL-01A-11D-A38G-08	20453645	149639633	5630927	118	2713											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			12	399						12	399	---	---	---	---	-	154157686	T	-	154157686	7	5	21	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-2L-AAQL-01A-11D-A38G-08	4518053	154157686	1112874	119	2714											
SPEN	23013	broad.mit.edu	37	chr1	16257931	16257937	+	Frame_Shift_Del	DEL	TGCCAAG	TGCCAAG	-													gaccagccgccttatctggaTgccaagcctccaactcccgg					rs368522361|rs142022144		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:16257931_16257937delTGCCAAG	ENST00000375759.3	+	11	5400_5406	c.5196_5202delTGCCAAG	c.(5194-5202)gatgccaagfs	p.DAK1732fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1732					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)			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)		CTTATCTGGATGCCAAGCCTCCAACTC	0.57																																						ENST00000375759.3																			0				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						c.(5194-5202)gafs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257931_16257937delTGCCAAG		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.5196_5202delTGCCAAG	1.37:g.16257931_16257937delTGCCAAG	ENSP00000364912:p.Asp1732fs						p.DAK1732fs	NM_015001.2	NP_055816.2	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	5400_5406	+		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)	1732					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.5196_5202delTGCCAAG	CCDS164.1																																																																																				0.57	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		103	645						103	645	---	---	---	---	-	16257937	TGCCAAG	-	16257931	7	5	22	1	0	1	0	1	0	0	0	0	15090	1461	51	0	5238	0	SPEN	1	16257931	Frame_Shift_Del	DEL	TGCCAAG	TCGA-2L-AAQM-01A-11D-A397-08		16257931	232992690	1	2715											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		9	207	0	0	0	1	0	9	207					C	16378296	A	C	16378296	2	2	22	1	0	0	0	0	0	0	0	1	3479	175	7	4		4	CLCNKB	1	16378296	Silent	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	120365	16378296	232872325	2	2716											
LRRC42	115353	broad.mit.edu	37	chr1	54426130	54426130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggccttgagaatctaaCattattagacttatcatgta	7	6	2	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:54426130C>A	ENST00000371370.3	+	5	1228	c.707C>A	c.(706-708)aCa>aAa	p.T236K	LRRC42_ENST00000319223.4_Missense_Mutation_p.T236K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	236										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GAGAATCTAACATTATTAGAC	0.373																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(706-708)aCa>aAa		leucine rich repeat containing 42							121	118	119					1																	54426130		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426130C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.707C>A	1.37:g.54426130C>A	ENSP00000360421:p.Thr236Lys					LRRC42_ENST00000319223.4_Missense_Mutation_p.T236K	p.T236K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1228	+			236					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.707C>A	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180059	0.01633	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T	0.00882	5.58;5.58	5.71	3.83	0.44106	.	0.536026	0.20896	N	0.083736	T	0.00356	0.0011	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.45716	-0.9242	10	0.05721	T	0.95	-2.5386	5.3175	0.15864	0.1551:0.6281:0.0:0.2168	.	236;236	E7EP35;Q9Y546	.;LRC42_HUMAN	K	236	ENSP00000360421:T236K;ENSP00000318185:T236K	ENSP00000318185:T236K	T	+	2	0	LRRC42	54198718	0.001000	0.12720	0.485000	0.27403	0.645000	0.38454	1.438000	0.35002	1.572000	0.49736	0.561000	0.74099	ACA		0.373	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		76	130	1	0	1.7488e-33	1	1.9789e-33	76	130					A	54426130	C	A	54426130	3	1	22	1	0	0	0	0	1	0	0	0	9038	478	17	3	717	3	LRRC42	1	54426130	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	38047834	54426130	194824491	3	2717											
LRRC7	57554	broad.mit.edu	37	chr1	70303923	70303923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtagacttgtcaaattgCggatcttggagttaagagaa	11	5	3	2	rs375015731		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:70303923C>T	ENST00000035383.5	+	5	520	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	LRRC7_ENST00000310961.5_Missense_Mutation_p.R169W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	164						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						TGTCAAATTGCGGATCTTGGA	0.299																																						ENST00000310961.5																			0				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						c.(505-507)Cgg>Tgg		leucine rich repeat containing 7							70	74	73					1																	70303923		2203	4296	6499	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70303923C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.490C>T	1.37:g.70303923C>T	ENSP00000035383:p.Arg164Trp					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000035383.5_Missense_Mutation_p.R164W	p.R169W			Q96NW7	LRRC7_HUMAN			8	923	+			164					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.505C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576348	0.45902	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.55234	2.76;0.53;2.76	5.67	3.77	0.43336	.	0.063497	0.64402	D	0.000010	T	0.61060	0.2317	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.70227	0.968;0.93	T	0.67086	-0.5759	10	0.72032	D	0.01	.	13.4324	0.61064	0.4073:0.5927:0.0:0.0	.	164;202	Q96NW7;B1AKT2	LRRC7_HUMAN;.	W	169;202;164;164	ENSP00000309245:R169W;ENSP00000359997:R202W;ENSP00000035383:R164W	ENSP00000035383:R164W	R	+	1	2	LRRC7	70076511	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.872000	0.48467	0.731000	0.32448	-0.321000	0.08615	CGG		0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		9	141	0	0	0	1	0	9	141					T	70303923	C	T	70303923	3	4	22	1	0	0	0	0	1	0	0	0	9058	759	27	1	508	1	LRRC7	1	70303923	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	15877793	70303923	178946698	4	2718											
AMPD1	270	broad.mit.edu	37	chr1	115216566	115216585	+	Frame_Shift_Del	DEL	CAGTGAGATCATTAGCCCTT	CAGTGAGATCATTAGCCCTT	-													tgcattgggtcatctgtagaCagtgagatcattagcccttt					rs182610890		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:115216566_115216585delCAGTGAGATCATTAGCCCTT	ENST00000520113.2	-	14	2033_2052	c.2018_2037delAAGGGCTAATGATCTCACTG	c.(2017-2037)aaagggctaatgatctcactgfs	p.KGLMISL673fs	AMPD1_ENST00000369538.3_Frame_Shift_Del_p.KGLMISL669fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.KGLMISL640fs			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	673					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.G674W(1)|p.K673N(1)|p.K640N(1)|p.G641W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATCTGTAGACAGTGAGATCATTAGCCCTTTCTGAAGGAA	0.395																																						ENST00000369538.3																			4	Substitution - Missense(4)	p.G674W(1)|p.K673N(1)|p.K640N(1)|p.G641W(1)	lung(2)|breast(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(2005-2025)afs		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)																																			SO:0001589	frameshift_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115216566_115216585delCAGTGAGATCATTAGCCCTT	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2018_2037delAAGGGCTAATGATCTCACTG	1.37:g.115216566_115216585delCAGTGAGATCATTAGCCCTT	ENSP00000430075:p.Lys673fs					AMPD1_ENST00000353928.6_Frame_Shift_Del_p.KGLMISL640fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.KGLMISL673fs	p.KGLMISL669fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2053_2072	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	640					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Frame_Shift_Del	DEL	ENST00000520113.2	37	c.2006_2025delAAGGGCTAATGATCTCACTG	CCDS876.2																																																																																				0.395	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			47	32						47	32	---	---	---	---	-	115216585	CAGTGAGATCATTAGCCCTT	-	115216566	7	5	22	1	0	1	0	1	0	0	0	0	585	465	17	0	317	0	AMPD1	1	115216566	Frame_Shift_Del	DEL	CAGTGAGATCATTAGCCCTT	TCGA-2L-AAQM-01A-11D-A397-08	44912643	115216566	134034055	5	2719											
CD1C	911	broad.mit.edu	37	chr1	158262047	158262047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtctgtcatctactcaatCatcagtatgaaggcgtcaca	8	10	7	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:158262047C>A	ENST00000368170.3	+	3	781	c.502C>A	c.(502-504)Cat>Aat	p.H168N		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	168					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCTACTCAATCATCAGTATGA	0.448																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(502-504)Cat>Aat		CD1c molecule							257	258	258					1																	158262047		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262047C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.502C>A	1.37:g.158262047C>A	ENSP00000357152:p.His168Asn						p.H168N	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	781	+	all_hematologic(112;0.0378)		168					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.502C>A	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.023|0.023	-1.405588|-1.405588	0.01155|0.01155	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.16324|.	2.35|.	0.113|0.113	0.113|0.113	0.14631|0.14631	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	.|.	.|.	.|.	.|.	T|.	0.05318|.	0.0141|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.28026|.	0.198|.	B|.	0.23275|.	0.045|.	T|.	0.40776|.	-0.9545|.	8|.	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	168|.	P29017|.	CD1C_HUMAN|.	N|X	168|102	ENSP00000357152:H168N|.	ENSP00000357151:H168N|.	H|S	+|+	1|2	0|0	CD1C|CD1C	156528671|156528671	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.022000|0.022000	0.10575|0.10575	-0.224000|-0.224000	0.09164|0.09164	0.183000|0.183000	0.20059|0.20059	0.186000|0.186000	0.17326|0.17326	CAT|TCA		0.448	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		6	826	1	0	3.59834e-05	1	3.83624e-05	6	826					A	158262047	C	A	158262047	3	1	22	1	0	0	0	0	1	0	0	0	2985	826	29	3	512	3	CD1C	1	158262047	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	43045481	158262047	90988574	6	2720											
HSD17B7	51478	broad.mit.edu	37	chr1	162769621	162769621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcaaggaaatctaattTcagcctcgaggacttccagc	9	11	2	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:162769621T>G	ENST00000254521.3	+	5	591	c.536T>G	c.(535-537)tTc>tGc	p.F179C	HSD17B7_ENST00000367917.3_Missense_Mutation_p.F179C|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	179					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AAATCTAATTTCAGCCTCGAG	0.488																																						ENST00000367917.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(535-537)tTc>tGc		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						68	62	64					1																	162769621		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769621T>G	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.536T>G	1.37:g.162769621T>G	ENSP00000254521:p.Phe179Cys					HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179C|HSD17B7_ENST00000485405.1_3'UTR	p.F179C			P56937	DHB7_HUMAN			5	604	+	all_hematologic(112;0.115)		179					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.536T>G	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062364	0.76187	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.79940	2.95;-1.32;2.95	4.44	4.44	0.53790	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.82517	2.595	0.40354	D	0.979169	D	0.89917	1.0	D	0.81914	0.995	D	0.89764	0.3949	9	0.87932	D	0	-15.6945	12.6443	0.56725	0.0:0.0:0.0:1.0	.	179	P56937	DHB7_HUMAN	C	179;179;32	ENSP00000356894:F179C;ENSP00000254521:F179C;ENSP00000412146:F32C	ENSP00000254521:F179C	F	+	2	0	HSD17B7	161036245	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.645000	0.83430	1.841000	0.53522	0.528000	0.53228	TTC		0.488	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		110	15	0	0	0	1	0	110	15					G	162769621	T	G	162769621	3	3	22	1	0	0	0	0	1	0	0	0	7418	1783	62	4	554	4	HSD17B7	1	162769621	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	4507574	162769621	86481000	7	2721											
SRP9	6726	broad.mit.edu	37	chr1	225971060	225971060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgttaaagtaacagAtgatttagttgtaagtatac	9	3	0	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr1:225971060A>T	ENST00000304786.7	+	2	243	c.131A>T	c.(130-132)gAt>gTt	p.D44V	SRP9_ENST00000366838.1_Missense_Mutation_p.D44V|SRP9_ENST00000366839.4_Missense_Mutation_p.D44V	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)			endometrium(1)|kidney(1)|skin(1)	3						AAAGTAACAGATGATTTAGTT	0.279																																						ENST00000366839.4																			0				endometrium(1)|kidney(1)|skin(1)	3						c.(130-132)gAt>gTt		signal recognition particle 9kDa							142	145	144					1																	225971060		2203	4300	6503	SO:0001583	missense	6726				negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr1:225971060A>T	BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"signal recognition particle 9kD"			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.131A>T	1.37:g.225971060A>T	ENSP00000305230:p.Asp44Val					SRP9_ENST00000304786.7_Missense_Mutation_p.D44V|SRP9_ENST00000366838.1_Missense_Mutation_p.D44V	p.D44V	NM_001130440.1	NP_001123912.1	P49458	SRP09_HUMAN			2	235	+			44					A8K0N0|Q6NVX0|Q8WTW0	Missense_Mutation	SNP	ENST00000304786.7	37	c.131A>T	CCDS1546.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275453	0.80580	.	.	ENSG00000143742	ENST00000304786;ENST00000366839;ENST00000366838	.	.	.	5.77	5.77	0.91146	Signal recognition particle, SRP9/SRP14 subunit (2);	0.000000	0.85682	U	0.000000	T	0.80031	0.4549	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.82892	-0.0232	8	0.87932	D	0	-1.8066	14.6735	0.68961	1.0:0.0:0.0:0.0	.	44;44	P49458-2;P49458	.;SRP09_HUMAN	V	44	.	ENSP00000305230:D44V	D	+	2	0	SRP9	224037683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.488000	0.81441	2.200000	0.70718	0.459000	0.35465	GAT		0.279	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092054.1	NM_003133		89	34	0	0	0	1	0	89	34					T	225971060	A	T	225971060	3	4	22	1	0	0	0	0	1	0	0	0	15210	333	12	5	137	5	SRP9	1	225971060	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	63201439	225971060	23279561	8	2722											
PBRM1	55193	broad.mit.edu	37	chr3	52598121	52598121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagagtgaaaacctcttcaAtcctttgaatttcttcatct	5	9	5	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:52598121A>C	ENST00000296302.7	-	23	3821	c.3820T>G	c.(3820-3822)Ttg>Gtg	p.L1274V	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1274V|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1249V|PBRM1_ENST00000356770.4_Missense_Mutation_p.L1242V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1274V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1289V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1249V|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1289V			Q86U86	PB1_HUMAN	polybromo 1	1274					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACCTCTTCAATCCTTTGAAT	0.393			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3724-3726)Ttg>Gtg		polybromo 1							117	114	115					3																	52598121		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598121A>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3820T>G	3.37:g.52598121A>C	ENSP00000296302:p.Leu1274Val					PBRM1_ENST00000409767.1_Missense_Mutation_p.L1289V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1274V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1274V|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1249V|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1274V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1249V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1289V	p.L1242V			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3726	-			1274			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3724T>G		.	.	.	.	.	.	.	.	.	.	A	14.70	2.612860	0.46631	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.46451	0.9;1.18;0.93;0.87;0.91;1.17;1.36;0.89;0.91	5.05	-0.466	0.12153	.	0.000000	0.64402	D	0.000002	T	0.56659	0.2000	M	0.69358	2.11	0.36378	D	0.861764	D;D;D;D;D;D;D;D	0.76494	0.998;0.974;0.998;0.996;0.999;0.999;0.998;0.996	D;D;D;D;D;D;D;D	0.85130	0.99;0.969;0.99;0.978;0.997;0.991;0.99;0.986	T	0.63756	-0.6565	10	0.72032	D	0.01	-5.8392	10.4444	0.44486	0.4616:0.0:0.5384:0.0	.	1249;1249;1274;1289;1289;1274;1242;1274	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	V	1242;1249;1274;1274;1274;1249;1289;1289;1273	ENSP00000349213:L1242V;ENSP00000378307:L1249V;ENSP00000296302:L1274V;ENSP00000338302:L1274V;ENSP00000386593:L1274V;ENSP00000386529:L1249V;ENSP00000386643:L1289V;ENSP00000386601:L1289V;ENSP00000387775:L1273V	ENSP00000296302:L1274V	L	-	1	2	PBRM1	52573161	0.997000	0.39634	0.955000	0.39395	0.990000	0.78478	2.349000	0.44054	0.107000	0.17824	-0.177000	0.13119	TTG		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		63	205	0	0	0	1	0	63	205					C	52598121	A	C	52598121	3	2	22	1	0	0	0	0	1	0	0	0	11533	98	4	4	1112	4	PBRM1	3	52598121	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08		52598121	145424309	9	2723											
PHLDB2	90102	broad.mit.edu	37	chr3	111688612	111688612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtagagactgctggcCacaatattgacacctgttac	9	11	0	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:111688612C>T	ENST00000431670.2	+	16	3802	c.3391C>T	c.(3391-3393)Cac>Tac	p.H1131Y	PHLDB2_ENST00000412622.1_Missense_Mutation_p.H1088Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.H1131Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H1115Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.H622Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H1088Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1131						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACTGCTGGCCACAATATTGA	0.468																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3391-3393)Cac>Tac		pleckstrin homology-like domain, family B, member 2							107	110	109					3																	111688612		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111688612C>T		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.3391C>T	3.37:g.111688612C>T	ENSP00000405405:p.His1131Tyr					PHLDB2_ENST00000393925.3_Missense_Mutation_p.H1131Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H1115Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.H622Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H1088Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H1088Y	p.H1131Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			16	3802	+			1131					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3391C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302528	0.60195	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;0.996;1.0;1.0	D;D;D;D;D	0.91635	0.986;0.997;0.977;0.999;0.999	D	0.90453	0.4440	10	0.87932	D	0	.	17.3647	0.87360	0.0:1.0:0.0:0.0	.	243;622;1131;1088;1115	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	Y	1115;1131;1088;1088;1131;1088;622	ENSP00000377500:H1115Y;ENSP00000405405:H1131Y;ENSP00000405292:H1088Y;ENSP00000418296:H1088Y;ENSP00000377502:H1131Y;ENSP00000418319:H1088Y;ENSP00000420303:H622Y	ENSP00000377500:H1115Y	H	+	1	0	PHLDB2	113171302	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.285000	0.78660	2.632000	0.89209	0.585000	0.79938	CAC		0.468	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		26	221	0	0	0	1	0	26	221					T	111688612	C	T	111688612	3	4	22	1	0	0	0	0	1	0	0	0	11894	594	21	2	3534	2	PHLDB2	3	111688612	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	59090491	111688612	86333818	10	2724											
EIF5A2	56648	broad.mit.edu	37	chr3	170612210	170612210	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaccatcttgaatgcatatCagctattagaagaaattata	5	6	2	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr3:170612210C>A	ENST00000295822.2	-	4	458	c.273G>T	c.(271-273)ctG>ctT	p.L91L	EIF5A2_ENST00000474096.1_Intron|EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000460117.1_5'UTR	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	91					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			GAATGCATATCAGCTATTAGA	0.343																																						ENST00000295822.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(271-273)ctG>ctT		eukaryotic translation initiation factor 5A2							115	115	115					3																	170612210		2203	4300	6503	SO:0001819	synonymous_variant	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170612210C>A	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.273G>T	3.37:g.170612210C>A						EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000474096.1_Intron|EIF5A2_ENST00000460117.1_5'UTR	p.L91L	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		4	458	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		91					B2R4V5	Silent	SNP	ENST00000295822.2	37	c.273G>T	CCDS3214.1																																																																																				0.343	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			4	199	1	0	0.00024832	1	0.000258333	4	199					A	170612210	C	A	170612210	2	1	22	1	0	0	0	0	0	0	0	1	5060	813	29	3		3	EIF5A2	3	170612210	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	58923598	170612210	27410220	11	2725											
SLC34A2	10568	broad.mit.edu	37	chr4	25671330	25671330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgtgttggtgctcttgCccgtggaggtggccacccat	14	12	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:25671330C>T	ENST00000382051.3	+	7	747	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P232S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P232S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	233					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGTGCTCTTGCCCGTGGAGGT	0.512			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(697-699)Ccc>Tcc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							210	201	204					4																	25671330		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671330C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.697C>T	4.37:g.25671330C>T	ENSP00000371483:p.Pro233Ser					SLC34A2_ENST00000504570.1_Missense_Mutation_p.P232S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P232S	p.P233S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	747	+		Breast(46;0.0503)	233					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.697C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925189	0.73213	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86097	-2.07;-2.07;-2.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95210	0.8324	10	0.72032	D	0.01	-32.0487	19.5216	0.95187	0.0:1.0:0.0:0.0	.	232;233	O95436-2;O95436	.;NPT2B_HUMAN	S	232;233;232	ENSP00000425501:P232S;ENSP00000371483:P233S;ENSP00000423021:P232S	ENSP00000371483:P233S	P	+	1	0	SLC34A2	25280428	1.000000	0.71417	0.509000	0.27700	0.212000	0.24457	7.818000	0.86416	2.700000	0.92200	0.561000	0.74099	CCC		0.512	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	762	0	0	0	1	0	8	762					T	25671330	C	T	25671330	3	4	22	1	0	0	0	0	1	0	0	0	14618	739	26	2	719	2	SLC34A2	4	25671330	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		25671330	165482946	12	2726											
TLR1	7096	broad.mit.edu	37	chr4	38798148	38798148	+	Frame_Shift_Del	DEL	A	A	-													ggctgcccttaagttagcccAaaaaaggccacgtttgctct							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:38798148delA	ENST00000502213.2	-	3	2534	c.2305delT	c.(2305-2307)tggfs	p.W769fs	TLR1_ENST00000308979.2_Frame_Shift_Del_p.W769fs|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	769	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAGTTAGCCCAAAAAAGGCCA	0.418																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2305-2307)ggfs		toll-like receptor 1							85	80	82					4																	38798148		2203	4300	6503	SO:0001589	frameshift_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798148delA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2305delT	4.37:g.38798148delA	ENSP00000421259:p.Trp769fs					TLR1_ENST00000502213.2_Frame_Shift_Del_p.W769fs	p.W769fs	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2578	-			769			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	37	c.2305delT	CCDS33973.1																																																																																				0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			7	450						7	450	---	---	---	---	-	38798148	A	-	38798148	7	5	22	1	0	1	0	1	0	0	0	0	16001	130	5	0	59	0	TLR1	4	38798148	Frame_Shift_Del	DEL	A	TCGA-2L-AAQM-01A-11D-A397-08	13126818	38798148	152356128	13	2727											
CORIN	10699	broad.mit.edu	37	chr4	47676485	47676485	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagggattgtagaggcAtctttggtctccttcttgac	12	8	3	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:47676485A>T	ENST00000273857.4	-	10	1281	c.1282T>A	c.(1282-1284)Tgc>Agc	p.C428S	CORIN_ENST00000504584.1_Missense_Mutation_p.C391S|CORIN_ENST00000508498.1_Missense_Mutation_p.C289S|CORIN_ENST00000502252.1_Missense_Mutation_p.C361S|CORIN_ENST00000505909.1_Missense_Mutation_p.C391S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	428		Cleavage; by autolysis.			female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTGTAGAGGCATCTTTGGTCT	0.428																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1282-1284)Tgc>Agc		corin, serine peptidase							219	197	205					4																	47676485		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47676485A>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1282T>A	4.37:g.47676485A>T	ENSP00000273857:p.Cys428Ser					CORIN_ENST00000508498.1_Missense_Mutation_p.C289S|CORIN_ENST00000504584.1_Missense_Mutation_p.C391S|CORIN_ENST00000502252.1_Missense_Mutation_p.C361S|CORIN_ENST00000505909.1_Missense_Mutation_p.C391S	p.C428S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			10	1281	-			428					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1282T>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966569	0.53507	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.94723	-3.07;-3.01;-2.99;-2.83;-3.5	4.83	4.83	0.62350	.	0.113515	0.64402	D	0.000011	D	0.96417	0.8831	M	0.65498	2.005	0.49687	D	0.999816	D;D;D;D	0.89917	0.999;0.999;1.0;0.991	D;D;D;P	0.80764	0.994;0.994;0.973;0.868	D	0.96791	0.9582	10	0.87932	D	0	.	13.418	0.60980	1.0:0.0:0.0:0.0	.	391;391;361;428	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	S	428;289;361;391;391	ENSP00000273857:C428S;ENSP00000425597:C289S;ENSP00000424212:C361S;ENSP00000425401:C391S;ENSP00000423216:C391S	ENSP00000273857:C428S	C	-	1	0	CORIN	47371242	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.461000	0.73522	2.154000	0.67381	0.528000	0.53228	TGC		0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	403	0	0	0	1	0	15	403					T	47676485	A	T	47676485	3	4	22	1	0	0	0	0	1	0	0	0	3761	217	8	5	1898	5	CORIN	4	47676485	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	8878337	47676485	143477791	14	2728											
FRYL	285527	broad.mit.edu	37	chr4	48621345	48621345	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtctactgctaagtcCctcctttcaagaagataatc	6	10	2	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:48621345C>G	ENST00000503238.1	-	4	356	c.357G>C	c.(355-357)agG>agC	p.R119S	FRYL_ENST00000507711.1_Missense_Mutation_p.R119S|FRYL_ENST00000537810.1_Missense_Mutation_p.R119S|FRYL_ENST00000358350.4_Missense_Mutation_p.R119S|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTAAGTCCCTCCTTTCAA	0.328																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(355-357)agG>agC		FRY-like							163	150	154					4																	48621345		1833	4088	5921	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621345C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.357G>C	4.37:g.48621345C>G	ENSP00000426064:p.Arg119Ser					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.R119S|FRYL_ENST00000503238.1_Missense_Mutation_p.R119S|FRYL_ENST00000507711.1_Missense_Mutation_p.R119S	p.R119S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			7	961	-			119					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.357G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755403	0.69648	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.64618	-0.11;-0.11;-0.11;0.38	5.87	1.73	0.24493	.	0.000000	0.64402	U	0.000001	T	0.74943	0.3783	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;0.985;0.996	D;D;D	0.85130	0.997;0.977;0.968	T	0.72724	-0.4207	10	0.87932	D	0	.	7.9332	0.29914	0.0:0.4914:0.0:0.5086	.	170;119;119	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	S	119	ENSP00000426064:R119S;ENSP00000351113:R119S;ENSP00000441114:R119S;ENSP00000421584:R119S	ENSP00000351113:R119S	R	-	3	2	FRYL	48316102	0.996000	0.38824	0.999000	0.59377	0.968000	0.65278	0.480000	0.22244	0.055000	0.16094	-0.982000	0.02568	AGG		0.328	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	276	0	0	0	1	0	13	276					G	48621345	C	G	48621345	3	3	22	1	0	0	0	0	1	0	0	0	6091	622	22	5	8916	5	FRYL	4	48621345	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	944860	48621345	142532931	15	2729											
PTPN13	5783	broad.mit.edu	37	chr4	87680211	87680211	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttatctctcagccaaaaGaaaagatatccaaaggtaat	6	7	2	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:87680211G>A	ENST00000411767.2	+	23	3601	c.3538G>A	c.(3538-3540)Gaa>Aaa	p.E1180K	PTPN13_ENST00000316707.6_Missense_Mutation_p.E989K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E1180K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1180					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGCCAAAAGAAAAGATATC	0.373																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(3538-3540)Gaa>Aaa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							80	81	81					4																	87680211		2001	4190	6191	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87680211G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3538G>A	4.37:g.87680211G>A	ENSP00000407249:p.Glu1180Lys					PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1180K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E989K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180K	p.E1180K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	23	4018	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1180					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3538G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786384	0.90367	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.42	5.42	0.78866	PDZ/DHR/GLGF (1);	0.000000	0.51477	D	0.000084	T	0.60261	0.2255	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.971;0.997;1.0;1.0	P;D;D;D	0.87578	0.783;0.973;0.998;0.997	T	0.54912	-0.8222	10	0.35671	T	0.21	.	19.5856	0.95488	0.0:0.0:1.0:0.0	.	989;1161;1180;1180	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	1161;1180;989;1180;1180;1129	ENSP00000408368:E1161K;ENSP00000394794:E1180K;ENSP00000322675:E989K;ENSP00000407249:E1180K;ENSP00000426626:E1180K	ENSP00000322675:E989K	E	+	1	0	PTPN13	87899235	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.851000	0.69481	2.693000	0.91896	0.585000	0.79938	GAA		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	191	0	0	0	1	0	6	191					A	87680211	G	A	87680211	3	1	22	1	0	0	0	0	1	0	0	0	12830	943	33	2	3624	2	PTPN13	4	87680211	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	39058866	87680211	103474065	16	2730											
MMRN1	22915	broad.mit.edu	37	chr4	90857513	90857513	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagagagatcaggctctTcaactgcaagtattaaattc	8	7	3	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:90857513T>A	ENST00000394980.1	+	7	3001	c.2682T>A	c.(2680-2682)ctT>ctA	p.L894L	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.L894L|MMRN1_ENST00000508372.1_Silent_p.L636L			Q13201	MMRN1_HUMAN	multimerin 1	894					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATCAGGCTCTTCAACTGCAAG	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2680-2682)ctT>ctA		multimerin 1							58	61	60					4																	90857513		2201	4298	6499	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857513T>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2682T>A	4.37:g.90857513T>A						MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.L894L|MMRN1_ENST00000508372.1_Silent_p.L636L	p.L894L			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3001	+		Hepatocellular(203;0.114)	894					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2682T>A	CCDS3635.1																																																																																				0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	402	0	0	0	1	0	7	402					A	90857513	T	A	90857513	2	1	22	1	0	0	0	0	0	0	0	1	9711	1770	62	5		5	MMRN1	4	90857513	Silent	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	3177302	90857513	100296763	17	2731											
GRID2	2895	broad.mit.edu	37	chr4	93511319	93511319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaaaaaggatgatgaGgtatttcgcactgcggttgg	13	7	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:93511319G>T	ENST00000282020.4	+	2	384	c.126G>T	c.(124-126)gaG>gaT	p.E42D	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E42D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	42					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)			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)		AGGATGATGAGGTATTTCGCA	0.378																																						ENST00000282020.4																			0				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						c.(124-126)gaG>gaT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						117	112	114					4																	93511319		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.chr4:93511319G>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.126G>T	4.37:g.93511319G>T	ENSP00000282020:p.Glu42Asp					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E42D	p.E42D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	2	384	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	42					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.126G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076582	0.55753	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.86164	-1.75;-2.08	5.83	4.98	0.66077	Extracellular ligand-binding receptor (1);	1.095540	0.07001	N	0.823314	D	0.88926	0.6570	L	0.29908	0.895	0.26723	N	0.970735	P;D	0.63046	0.956;0.992	D;D	0.77004	0.931;0.989	T	0.76085	-0.3088	10	0.40728	T	0.16	.	6.5961	0.22674	0.3089:0.0:0.6911:0.0	.	42;42	E9PH24;O43424	.;GRID2_HUMAN	D	42	ENSP00000282020:E42D;ENSP00000421257:E42D	ENSP00000282020:E42D	E	+	3	2	GRID2	93730342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.566000	0.45948	1.440000	0.47531	0.563000	0.77884	GAG		0.378	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			14	557	1	0	2.32078e-09	1	2.60331e-09	14	557					T	93511319	G	T	93511319	3	4	22	1	0	0	0	0	1	0	0	0	6802	991	35	3	132	3	GRID2	4	93511319	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	2653806	93511319	97642957	18	2732											
TLL1	7092	broad.mit.edu	37	chr4	166946577	166946577	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtttctgtgaccccaggGgagaaggtagtttataccgt	13	7	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr4:166946577G>T	ENST00000061240.2	+	9	1799	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	TLL1_ENST00000513213.1_Silent_p.G384G|TLL1_ENST00000507499.1_Silent_p.G384G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	384	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGACCCCAGGGGAGAAGGTAG	0.388																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1150-1152)ggG>ggT		tolloid-like 1							83	81	82					4																	166946577		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166946577G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1152G>T	4.37:g.166946577G>T						TLL1_ENST00000513213.1_Silent_p.G384G|TLL1_ENST00000507499.1_Silent_p.G384G	p.G384G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	9	1799	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	384			CUB 1.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1152G>T	CCDS3811.1																																																																																				0.388	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			133	161	1	0	5.75948e-69	1	6.69346e-69	133	161					T	166946577	G	T	166946577	2	4	22	1	0	0	0	0	0	0	0	1	15997	1219	43	3		3	TLL1	4	166946577	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	73435258	166946577	24207699	19	2733											
ERBB2IP	55914	broad.mit.edu	37	chr5	65309380	65309380	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctggtattttatgtaggctCcctgatggattttctcagct	9	8	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr5:65309380C>A	ENST00000284037.5	+	6	779	c.390C>A	c.(388-390)ctC>ctA	p.L130L	ERBB2IP_ENST00000506030.1_Silent_p.L130L|ERBB2IP_ENST00000380936.1_Silent_p.L130L|ERBB2IP_ENST00000380943.2_Silent_p.L130L|ERBB2IP_ENST00000416865.2_Silent_p.L130L|ERBB2IP_ENST00000511297.1_Silent_p.L130L|ERBB2IP_ENST00000380935.1_Silent_p.L130L|ERBB2IP_ENST00000380939.2_Silent_p.L130L|ERBB2IP_ENST00000508515.1_Silent_p.L130L|ERBB2IP_ENST00000380938.2_Silent_p.L130L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	130					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)			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)		TATGTAGGCTCCCTGATGGAT	0.338																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(388-390)ctC>ctA		erbb2 interacting protein							142	146	145					5																	65309380		2203	4299	6502	SO:0001819	synonymous_variant	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.chr5:65309380C>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.390C>A	5.37:g.65309380C>A						ERBB2IP_ENST00000416865.2_Silent_p.L130L|ERBB2IP_ENST00000380943.2_Silent_p.L130L|ERBB2IP_ENST00000511297.1_Silent_p.L130L|ERBB2IP_ENST00000380938.2_Silent_p.L130L|ERBB2IP_ENST00000380936.1_Silent_p.L130L|ERBB2IP_ENST00000508515.1_Silent_p.L130L|ERBB2IP_ENST00000380935.1_Silent_p.L130L|ERBB2IP_ENST00000380939.2_Silent_p.L130L|ERBB2IP_ENST00000506030.1_Silent_p.L130L	p.L130L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	6	779	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	130					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.390C>A	CCDS58953.1																																																																																				0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		121	541	1	0	1.75003e-54	1	1.99782e-54	121	541					A	65309380	C	A	65309380	2	1	22	1	0	0	0	0	0	0	0	1	5225	842	30	3		3	ERBB2IP	5	65309380	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		65309380	115605880	20	2734											
ODZ2	57451	broad.mit.edu	37	chr5	167645603	167645603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatattcggatcagggcGgtcagcaagaacaagcctgt	13	8	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr5:167645603G>A	ENST00000518659.1	+	23	4746	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	TENM2_ENST00000520394.1_Silent_p.A1330A|TENM2_ENST00000545108.1_Silent_p.A1568A|TENM2_ENST00000519204.1_Silent_p.A1448A|TENM2_ENST00000403607.2_Silent_p.A1393A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1569					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGATCAGGGCGGTCAGCAAGA	0.493																																						ENST00000519204.1																			0											c.(4342-4344)gcG>gcA		teneurin transmembrane protein 2							162	156	158					5																	167645603		1966	4145	6111	SO:0001819	synonymous_variant	57451							g.chr5:167645603G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4707G>A	5.37:g.167645603G>A						TENM2_ENST00000403607.2_Silent_p.A1393A|TENM2_ENST00000518659.1_Silent_p.A1569A|TENM2_ENST00000520394.1_Silent_p.A1330A|TENM2_ENST00000545108.1_Silent_p.A1568A	p.A1448A							22	4462	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4344G>A																																																																																					0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	942	0	0	0	1	0	6	942					A	167645603	G	A	167645603	2	1	22	1	0	0	0	0	0	0	0	1	10877	1103	39	1		1	ODZ2	5	167645603	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	102336223	167645603	13269657	21	2735											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097476	28097480	+	Frame_Shift_Del	DEL	ATGTG	ATGTG	-													acgggagagaagccctataaAtgtgatgagtgtggaaaagc					rs143274731		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:28097476_28097480delATGTG	ENST00000340487.4	+	4	944_948	c.795_799delATGTG	c.(793-801)aaatgtgatfs	p.CD266fs	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	266					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGCCCTATAAATGTGATGAGTGTGG	0.405																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(793-801)aaatfs		zinc finger and SCAN domain containing 16																																				SO:0001589	frameshift_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097476_28097480delATGTG	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.795_799delATGTG	6.37:g.28097476_28097480delATGTG	ENSP00000366527:p.Cys266fs					RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	p.KCD265fs	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	944_948	+			265					Q9H6K2	Frame_Shift_Del	DEL	ENST00000340487.4	37	c.795_799delATGTG	CCDS4644.1																																																																																				0.405	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		139	48						139	48	---	---	---	---	-	28097480	ATGTG	-	28097476	7	5	22	1	0	1	0	1	0	0	0	0	18282	98	4	0	805	0	ZSCAN16	6	28097476	Frame_Shift_Del	DEL	ATGTG	TCGA-2L-AAQM-01A-11D-A397-08		28097476	143017591	22	2736											
DNAH8	1769	broad.mit.edu	37	chr6	38750805	38750805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagacattttatcaagtcCggacggtaaagctgtcatcc	8	11	3	1	rs199804814		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:38750805C>A	ENST00000359357.3	+	15	1888	c.1634C>A	c.(1633-1635)cCg>cAg	p.P545Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.P545Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P762Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	545					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATCAAGTCCGGACGGTAAA	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1633-1635)cCg>cAg		dynein, axonemal, heavy chain 8							95	90	92					6																	38750805		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38750805C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1634C>A	6.37:g.38750805C>A	ENSP00000352312:p.Pro545Gln					DNAH8_ENST00000441566.1_Missense_Mutation_p.P545Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P762Q	p.P545Q							15	1888	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1634C>A		.	.	.	.	.	.	.	.	.	.	C	10.17	1.276647	0.23307	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55930	0.49;0.49;0.49	5.74	-5.44	0.02624	Dynein heavy chain, domain-1 (1);	3.514710	0.00760	N	0.001131	T	0.19446	0.0467	L	0.38953	1.18	0.09310	N	1	B	0.18741	0.03	B	0.30179	0.112	T	0.15723	-1.0427	10	0.27082	T	0.32	.	7.4157	0.27042	0.1009:0.4211:0.0:0.4781	.	545	Q96JB1	DYH8_HUMAN	Q	750;750;545;545	ENSP00000333363:P750Q;ENSP00000352312:P545Q;ENSP00000402294:P545Q	ENSP00000333363:P750Q	P	+	2	0	DNAH8	38858783	0.000000	0.05858	0.000000	0.03702	0.591000	0.36615	0.002000	0.13061	-1.765000	0.01303	-0.469000	0.05056	CCG		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		107	16	1	0	2.18931e-77	1	2.56746e-77	107	16					A	38750805	C	A	38750805	3	1	22	1	0	0	0	0	1	0	0	0	4623	652	23	3	1684	3	DNAH8	6	38750805	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	10653329	38750805	132364262	23	2737											
TFAP2B	7021	broad.mit.edu	37	chr6	50805690	50805690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taattcttgcaatttcagagCcaaatcgaaaaatgggggga	10	6	2	1	rs80338914		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:50805690C>A	ENST00000393655.3	+	5	993	c.824C>A	c.(823-825)gCc>gAc	p.A275D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A284D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	275			A -> D (in CHAR). {ECO:0000269|PubMed:10802654}.		aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATTTCAGAGCCAAATCGAAA	0.423																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	GRCh37	CM000832	TFAP2B	M	rs80338914	c.(850-852)gCc>gAc		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							82	93	89					6																	50805690		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805690C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.824C>A	6.37:g.50805690C>A	ENSP00000377265:p.Ala275Asp					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A275D	p.A284D			Q92481	AP2B_HUMAN			6	1017	+	Lung NSC(77;0.156)		275					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.851C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909537	0.92107	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97731	-4.51;-4.51	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.92507	3.315	0.80722	A	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99414	1.0931	9	0.87932	D	0	-20.6802	20.0471	0.97613	0.0:1.0:0.0:0.0	.	275	Q92481	AP2B_HUMAN	D	275;284	ENSP00000377265:A275D;ENSP00000263046:A284D	ENSP00000263046:A284D	A	+	2	0	TFAP2B	50913649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	GCC		0.423	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	356	1	0	1	1	1	5	356					A	50805690	C	A	50805690	3	1	22	1	0	0	0	0	1	0	0	0	15840	739	26	3	842	3	TFAP2B	6	50805690	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	12054885	50805690	120309377	24	2738											
LAMA2	3908	broad.mit.edu	37	chr6	129828687	129828687	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccacatggcagaggccccTgccgatctggaacaacccac	9	17	1	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr6:129828687T>A	ENST00000421865.2	+	62	8806	c.8757T>A	c.(8755-8757)ccT>ccA	p.P2919P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2919	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGAGGCCCCTGCCGATCTGG	0.478																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8755-8757)ccT>ccA		laminin, alpha 2							134	124	127					6																	129828687		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828687T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8757T>A	6.37:g.129828687T>A							p.P2919P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	8806	+			2919			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8757T>A	CCDS5138.1																																																																																				0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			61	429	0	0	0	1	0	61	429					A	129828687	T	A	129828687	2	1	22	1	0	0	0	0	0	0	0	1	8637	1567	55	5		5	LAMA2	6	129828687	Silent	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	79022997	129828687	41286380	25	2739											
FKBP14	55033	broad.mit.edu	37	chr7	30066109	30066109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcaagaccgcgttccAcaagaaaagcctcatgttgc	9	12	2	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:30066109A>C	ENST00000222803.5	-	1	191	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	PLEKHA8_ENST00000449726.1_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	6					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						ACCGCGTTCCACAAGAAAAGC	0.448																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(16-18)Tgg>Ggg		FK506 binding protein 14, 22 kDa							70	69	69					7																	30066109		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066109A>C	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"EF-hand domain containing"	18625	protein-coding gene	gene with protein product		614505	"FK506 binding protein 14 (22 kDa)"			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.16T>G	7.37:g.30066109A>C	ENSP00000222803:p.Trp6Gly						p.W6G	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			1	191	-			6						Missense_Mutation	SNP	ENST00000222803.5	37	c.16T>G	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	A	9.204	1.029199	0.19512	.	.	ENSG00000106080	ENST00000222803	T	0.35421	1.31	6.08	2.33	0.28932	.	0.459191	0.26334	N	0.024980	T	0.23727	0.0574	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.14254	-1.0479	10	0.27785	T	0.31	-33.4721	4.3952	0.11360	0.6942:0.0:0.1604:0.1454	.	6	Q9NWM8	FKB14_HUMAN	G	6	ENSP00000222803:W6G	ENSP00000222803:W6G	W	-	1	0	FKBP14	30032634	0.302000	0.24454	0.861000	0.33841	0.098000	0.18820	1.624000	0.37018	0.520000	0.28426	0.482000	0.46254	TGG		0.448	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		9	305	0	0	0	1	0	9	305					C	30066109	A	C	30066109	3	2	22	1	0	0	0	0	1	0	0	0	5929	159	6	4	635	4	FKBP14	7	30066109	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08		30066109	129072554	26	2740											
BAZ1B	9031	broad.mit.edu	37	chr7	72877251	72877251	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggattttcttatattcctaCccgggcttcaaattctgatg	8	9	3	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:72877251C>A	ENST00000339594.4	-	12	3588		c.e12+1		BAZ1B_ENST00000404251.1_Splice_Site	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B						cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TATATTCCTACCCGGGCTTCA	0.418																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e12+1		bromodomain adjacent to zinc finger domain, 1B							80	86	84					7																	72877251		2201	4300	6501	SO:0001630	splice_region_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72877251C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3249+1G>T	7.37:g.72877251C>A						BAZ1B_ENST00000404251.1_Splice_Site		NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			12	3588	-		Lung NSC(55;0.0659)|all_lung(88;0.152)						B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Splice_Site	SNP	ENST00000339594.4	37		CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455618	0.84209	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ1B	72515187	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.005000	0.76323	2.738000	0.93877	0.591000	0.81541	.		0.418	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	Intron	7	577	1	0	1.12685e-05	1	1.21136e-05	7	577					A	72877251	C	A	72877251	5	1	22	1	0	0	0	0	0	0	1	0	1331	521	18	3	1233	3	BAZ1B	7	72877251	Splice_Site	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	42811142	72877251	86261412	27	2741											
MEPCE	56257	broad.mit.edu	37	chr7	100028427	100028427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagactggtcggaagcgGcatagacaccggggacagca	14	11	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:100028427G>A	ENST00000310512.2	+	1	1174	c.786G>A	c.(784-786)cgG>cgA	p.R262R	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	262					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R262R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCGGAAGCGGCATAGACACC	0.597																																						ENST00000310512.2																			1	Substitution - coding silent(1)	p.R262R(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(784-786)cgG>cgA		methylphosphate capping enzyme							118	129	125					7																	100028427		2203	4300	6503	SO:0001819	synonymous_variant	56257						methyltransferase activity	g.chr7:100028427G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.786G>A	7.37:g.100028427G>A						MEPCE_ENST00000414441.1_5'UTR	p.R262R	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1174	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		262					B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	c.786G>A	CCDS5693.1																																																																																				0.597	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			8	1083	0	0	0	1	0	8	1083					A	100028427	G	A	100028427	2	1	22	1	0	0	0	0	0	0	0	1	9518	1190	42	2		2	MEPCE	7	100028427	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	27151176	100028427	59110236	28	2742											
WNT2	7472	broad.mit.edu	37	chr7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-													gattcatcagggctctggcaTcctttcctttcctttccttt							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		7	659						7	659	---	---	---	---	-	116955175	TCCTT	-	116955171	7	5	22	1	0	1	0	1	0	0	0	0	17440	1435	50	0	552	0	WNT2	7	116955171	Frame_Shift_Del	DEL	TCCTT	TCGA-2L-AAQM-01A-11D-A397-08	16926744	116955171	42183492	29	2743											
GCC1	79571	broad.mit.edu	37	chr7	127222454	127222454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaagtgggctcattggCcgctgcaagttgtaatgctt	12	7	1	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:127222454C>T	ENST00000321407.2	-	2	2366	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	648					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTCATTGGCCGCTGCAAGT	0.582																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1942-1944)Gcc>Acc		GRIP and coiled-coil domain containing 1							120	117	118					7																	127222454		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222454C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1942G>A	7.37:g.127222454C>T	ENSP00000318821:p.Ala648Thr						p.A648T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2366	-			648					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1942G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387862	0.11581	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.49	2.54	0.30619	.	0.577345	0.19741	N	0.107107	T	0.08626	0.0214	L	0.34521	1.04	0.24510	N	0.994218	B	0.12630	0.006	B	0.14023	0.01	T	0.35475	-0.9787	10	0.16420	T	0.52	-0.3929	6.1245	0.20172	0.1376:0.6504:0.1337:0.0783	.	648	Q96CN9	GCC1_HUMAN	T	648	ENSP00000318821:A648T	ENSP00000318821:A648T	A	-	1	0	GCC1	127009690	0.160000	0.22878	0.044000	0.18714	0.014000	0.08584	0.524000	0.22940	0.792000	0.33850	0.655000	0.94253	GCC		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		7	502	0	0	0	1	0	7	502					T	127222454	C	T	127222454	3	4	22	1	0	0	0	0	1	0	0	0	6313	739	26	2	389	2	GCC1	7	127222454	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	10267283	127222454	31916209	30	2744											
FSCN3	29999	broad.mit.edu	37	chr7	127235710	127235710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaccccactatgggccGcatctgggtggacgcagcag	15	13	1	1	rs143868079		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr7:127235710G>A	ENST00000265825.5	+	2	713	c.494G>A	c.(493-495)cGc>cAc	p.R165H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	165						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTATGGGCCGCATCTGGGTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16567	0.001		0.0	False		,,,				2504	0.0					ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(493-495)cGc>cAc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	101	108		494	5.6	0.7	7	dbSNP_134	108	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	165/499	127235710	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235710G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.494G>A	7.37:g.127235710G>A	ENSP00000265825:p.Arg165His					FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H	p.R165H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	713	+			165					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.494G>A	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.4	4.529020	0.85706	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.46819	1.47;0.86	5.58	5.58	0.84498	Actin cross-linking (1);	0.203235	0.35124	N	0.003431	T	0.42471	0.1204	N	0.22421	0.69	0.39348	D	0.965697	D;D	0.63046	0.992;0.992	P;P	0.47603	0.551;0.475	T	0.46582	-0.9181	10	0.72032	D	0.01	-3.3147	15.4359	0.75146	0.0:0.0:1.0:0.0	.	31;165	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	165;31	ENSP00000265825:R165H;ENSP00000412243:R31H	ENSP00000265825:R165H	R	+	2	0	FSCN3	127022946	0.815000	0.29118	0.719000	0.30619	0.986000	0.74619	4.339000	0.59322	2.788000	0.95919	0.650000	0.86243	CGC		0.612	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		6	388	0	0	0	1	0	6	388					A	127235710	G	A	127235710	3	1	22	1	0	0	0	0	1	0	0	0	6096	1087	38	1	500	1	FSCN3	7	127235710	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	13256	127235710	31902953	31	2745											
KLHL38	340359	broad.mit.edu	37	chr8	124664364	124664364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaggagtttgcagtctGggacggtggtgccacacaaa	14	9	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr8:124664364G>A	ENST00000325995.7	-	1	826	c.803C>T	c.(802-804)cCa>cTa	p.P268L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	268								p.P268Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTTGCAGTCTGGGACGGTGGT	0.552																																						ENST00000325995.7																			1	Substitution - Missense(1)	p.P268Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(802-804)cCa>cTa		kelch-like family member 38							84	85	85					8																	124664364		2059	4194	6253	SO:0001583	missense	340359							g.chr8:124664364G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.803C>T	8.37:g.124664364G>A	ENSP00000321475:p.Pro268Leu					CTD-2552K11.2_ENST00000524355.1_RNA	p.P268L	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	826	-			268					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.803C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.398431	0.01175	.	.	ENSG00000175946	ENST00000325995	T	0.73258	-0.73	5.2	2.13	0.27403	.	0.771268	0.12755	N	0.441805	T	0.61726	0.2370	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.48614	-0.9020	10	0.29301	T	0.29	.	8.3653	0.32382	0.0729:0.0:0.595:0.332	.	268	Q2WGJ6	KLH38_HUMAN	L	268	ENSP00000321475:P268L	ENSP00000321475:P268L	P	-	2	0	KLHL38	124733545	0.988000	0.35896	0.004000	0.12327	0.158000	0.22134	2.589000	0.46145	0.089000	0.17243	0.561000	0.74099	CCA		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			7	216	0	0	0	1	0	7	216					A	124664364	G	A	124664364	3	1	22	1	0	0	0	0	1	0	0	0	8420	1348	47	2	954	2	KLHL38	8	124664364	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		124664364	21699658	32	2746											
MLLT3	4300	broad.mit.edu	37	chr9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtggtatgaatactcctatta	10	10	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgGTATGAAT	0.493			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16	20	18					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR	p.S149T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	339	0	0	0	1	0	6	339					G	20414398	C	G	20414398	3	3	22	1	0	0	0	0	1	0	0	0	9669	797	28	5	1288	5	MLLT3	9	20414398	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		20414398	120799033	33	2747											
PIGO	84720	broad.mit.edu	37	chr9	35090130	35090130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatagaagtgctgaggcGcatcccggagccgcatctcc	12	14	1	2	rs149391665	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:35090130G>A	ENST00000378617.3	-	9	3396	c.3002C>T	c.(3001-3003)gCg>gTg	p.A1001V	PIGO_ENST00000341666.3_Missense_Mutation_p.A1001V|PIGO_ENST00000298004.5_Missense_Mutation_p.A584V|PIGO_ENST00000361778.2_Missense_Mutation_p.A584V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1001					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGCTGAGGCGCATCCCGGAG	0.582													g|||	2	0.000399361	0.0	0.0	5008	,	,		19634	0.001		0.001	False		,,,				2504	0.0					ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(3001-3003)gCg>gTg		phosphatidylinositol glycan anchor biosynthesis, class O		A	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94	82	86		1751,3002,1751	2.7	0	9	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense	PIGO	NM_001201484.1,NM_032634.3,NM_152850.3	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	584/673,1001/1090,584/673	35090130	1,13005	2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090130G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.3002C>T	9.37:g.35090130G>A	ENSP00000367880:p.Ala1001Val					PIGO_ENST00000298004.5_Missense_Mutation_p.A584V|PIGO_ENST00000361778.2_Missense_Mutation_p.A584V|PIGO_ENST00000341666.3_Missense_Mutation_p.A1001V	p.A1001V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3396	-			1001					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.3002C>T	CCDS6575.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.985	0.751968	0.15778	2.27E-4	0.0	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.49;0.51;0.51;0.49	5.41	2.65	0.31530	.	0.779475	0.12234	N	0.487145	T	0.34542	0.0901	N	0.25647	0.755	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.003	T	0.21008	-1.0258	10	0.30078	T	0.28	-0.859	4.2467	0.10675	0.1344:0.1257:0.6095:0.1304	.	584;1001	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	V	584;1001;1001;584	ENSP00000298004:A584V;ENSP00000367880:A1001V;ENSP00000339382:A1001V;ENSP00000354678:A584V	ENSP00000298004:A584V	A	-	2	0	PIGO	35080130	0.684000	0.27642	0.007000	0.13788	0.934000	0.57294	3.432000	0.52824	0.442000	0.26555	-0.708000	0.03648	GCG		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	459	0	0	0	1	0	5	459					A	35090130	G	A	35090130	3	1	22	1	0	0	0	0	1	0	0	0	11936	1087	38	1	279	1	PIGO	9	35090130	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	14675732	35090130	106123301	34	2748											
PIGO	84720	broad.mit.edu	37	chr9	35095163	35095163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtgagggccttgaggcGctgcatggtggtggtaggag	21	5	0	2	rs561715009		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:35095163G>A	ENST00000378617.3	-	2	794	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PIGO_ENST00000492770.1_5'UTR|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.R134C|PIGO_ENST00000298004.5_Missense_Mutation_p.R134C|PIGO_ENST00000361778.2_Missense_Mutation_p.R134C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	134					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCCTTGAGGCGCTGCATGGTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.001					ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(400-402)Cgc>Tgc		phosphatidylinositol glycan anchor biosynthesis, class O							101	87	92					9																	35095163		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095163G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.400C>T	9.37:g.35095163G>A	ENSP00000367880:p.Arg134Cys					PIGO_ENST00000298004.5_Missense_Mutation_p.R134C|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.R134C|PIGO_ENST00000341666.3_Missense_Mutation_p.R134C	p.R134C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	794	-			134					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.400C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320368	0.81469	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.93	5.93	0.95920	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.055982	0.64402	D	0.000002	T	0.65249	0.2673	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72757	-0.4197	10	0.87932	D	0	-15.7009	15.1109	0.72355	0.0:0.0:0.8586:0.1414	.	134;134	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	C	134	ENSP00000298004:R134C;ENSP00000367880:R134C;ENSP00000339382:R134C;ENSP00000354678:R134C	ENSP00000298004:R134C	R	-	1	0	PIGO	35085163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.983000	0.56916	2.826000	0.97356	0.655000	0.94253	CGC		0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	437	0	0	0	1	0	5	437					A	35095163	G	A	35095163	3	1	22	1	0	0	0	0	1	0	0	0	11936	1087	38	1	2909	1	PIGO	9	35095163	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	5033	35095163	106118268	35	2749											
GNAQ	2776	broad.mit.edu	37	chr9	80646047	80646047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgagctcccggcgggcGtcccgcttgtccctgcggag	15	15	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"guanine nucleotide binding protein (G protein), q polypeptide"			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(103-105)gaC>gaT		guanine nucleotide binding protein (G protein), q polypeptide							10	11	11					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80646047G>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A							p.D35D	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			1	327	-			35					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	c.105C>T	CCDS6658.1																																																																																				0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		3	51	0	0	0	1	0	3	51					A	80646047	G	A	80646047	2	1	22	1	0	0	0	0	0	0	0	1	6538	1136	40	1		1	GNAQ	9	80646047	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	45550884	80646047	60567384	36	2750											
KIF27	55582	broad.mit.edu	37	chr9	86518491	86518491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggggctgacacatgtgatCatgacagtcttagcactgcc	12	10	2	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:86518491C>T	ENST00000297814.2	-	4	1085	c.942G>A	c.(940-942)atG>atA	p.M314I	KIF27_ENST00000413982.1_Missense_Mutation_p.M314I|KIF27_ENST00000334204.2_Missense_Mutation_p.M314I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CACATGTGATCATGACAGTCT	0.448																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(940-942)atG>atA		kinesin family member 27							81	82	82					9																	86518491		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518491C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.942G>A	9.37:g.86518491C>T	ENSP00000297814:p.Met314Ile					KIF27_ENST00000334204.2_Missense_Mutation_p.M314I|KIF27_ENST00000413982.1_Missense_Mutation_p.M314I	p.M314I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1085	-			314					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.942G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858465	0.91433	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000001	D	0.85716	0.5761	M	0.65320	2	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.83275	0.991;0.996;0.994	D	0.86037	0.1517	10	0.87932	D	0	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	314;314;314	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	314	ENSP00000297814:M314I;ENSP00000401688:M314I;ENSP00000333928:M314I	ENSP00000297814:M314I	M	-	3	0	KIF27	85708311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.744000	0.94065	0.655000	0.94253	ATG		0.448	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		8	387	0	0	0	1	0	8	387					T	86518491	C	T	86518491	3	4	22	1	0	0	0	0	1	0	0	0	8326	826	29	2	3323	2	KIF27	9	86518491	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	5872444	86518491	54694940	37	2751											
TMEM38B	55151	broad.mit.edu	37	chr9	108456999	108456999	+	Frame_Shift_Del	DEL	T	T	-													cccgcacgtccatgtttcccTtttttgacatcgcgcactat							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:108456999delT	ENST00000374692.3	+	1	175	c.58delT	c.(58-60)tttfs	p.F21fs		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	21						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CATGTTTCCCTTTTTTGACAT	0.627																																						ENST00000374692.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(58-60)ttfs		transmembrane protein 38B							110	90	97					9																	108456999		2203	4300	6503	SO:0001589	frameshift_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108456999delT	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.58delT	9.37:g.108456999delT	ENSP00000363824:p.Phe21fs						p.F21fs	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN			1	175	+			21					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Frame_Shift_Del	DEL	ENST00000374692.3	37	c.58delT	CCDS6768.1																																																																																				0.627	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		7	712						7	712	---	---	---	---	-	108456999	T	-	108456999	7	5	22	1	0	1	0	1	0	0	0	0	16212	1609	56	0	60	0	TMEM38B	9	108456999	Frame_Shift_Del	DEL	T	TCGA-2L-AAQM-01A-11D-A397-08	21938508	108456999	32756432	38	2752											
RAD23B	5887	broad.mit.edu	37	chr9	110087200	110087200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggaggaggaggtggagGtggcagtggaggaattgcag	21	3	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:110087200G>C	ENST00000358015.3	+	9	1382	c.1031G>C	c.(1030-1032)gGt>gCt	p.G344A	RAD23B_ENST00000416373.2_Missense_Mutation_p.G272A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	344	Poly-Gly.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGGTGGAGGTGGCAGTGGA	0.423								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1030-1032)gGt>gCt	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							90	77	81					9																	110087200		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110087200G>C		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1031G>C	9.37:g.110087200G>C	ENSP00000350708:p.Gly344Ala					RAD23B_ENST00000416373.2_Missense_Mutation_p.G272A	p.G344A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			9	1382	+			344			Poly-Gly.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.1031G>C	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963409	0.53507	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18502	2.21;2.24	5.5	5.5	0.81552	UBA-like (1);	0.224048	0.44097	D	0.000484	T	0.11367	0.0277	N	0.12182	0.205	0.42947	D	0.994365	B;B;P	0.36683	0.003;0.077;0.565	B;B;B	0.34038	0.008;0.014;0.174	T	0.22556	-1.0213	10	0.20519	T	0.43	-1.3038	19.762	0.96323	0.0:0.0:1.0:0.0	.	323;344;344	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	A	344;272	ENSP00000350708:G344A;ENSP00000405623:G272A	ENSP00000350708:G344A	G	+	2	0	RAD23B	109127021	1.000000	0.71417	0.959000	0.39883	0.808000	0.45660	9.149000	0.94659	2.741000	0.93983	0.650000	0.86243	GGT		0.423	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		4	333	0	0	0	1	0	4	333					C	110087200	G	C	110087200	3	2	22	1	0	0	0	0	1	0	0	0	13033	1261	44	5	1065	5	RAD23B	9	110087200	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	1630201	110087200	31126231	39	2753											
ORM1	5004	broad.mit.edu	37	chr9	117087391	117087391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaagctctcgactgcttgCgcattcccaagtcagatgtc	9	13	2	1	rs3182034	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:117087391C>T	ENST00000259396.8	+	5	577	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	167			R -> C (in dbSNP:rs3182034). {ECO:0000269|PubMed:15489334}.		acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	CGACTGCTTGCGCATTCCCAA	0.562													-|||	7	0.00139776	0.003	0.0	5008	,	,		22279	0.0		0.003	False		,,,				2504	0.0					ENST00000259396.8																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(499-501)Cgc>Tgc		orosomucoid 1	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						132	145	141					9																	117087391		2203	4300	6503	SO:0001583	missense	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117087391C>T		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.499C>T	9.37:g.117087391C>T	ENSP00000259396:p.Arg167Cys					ORM1_ENST00000477456.1_3'UTR	p.R167C	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN			5	577	+		Myeloproliferative disorder(63;0.163)	167		R -> C (in dbSNP:rs3182034).			B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	c.499C>T	CCDS6803.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	-	10.58	1.389702	0.25118	.	.	ENSG00000229314	ENST00000259396	T	0.10005	2.92	4.24	2.35	0.29111	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.463309	0.24305	N	0.039689	T	0.03520	0.0101	N	0.02011	-0.69	0.09310	N	0.999999	P	0.42483	0.781	B	0.38458	0.274	T	0.32771	-0.9894	10	0.49607	T	0.09	-18.8371	6.1851	0.20493	0.1104:0.1957:0.6939:0.0	rs3182034;rs17415555	167	P02763	A1AG1_HUMAN	C	167	ENSP00000259396:R167C	ENSP00000259396:R167C	R	+	1	0	ORM1	116127212	0.114000	0.22134	0.005000	0.12908	0.050000	0.14768	1.859000	0.39418	0.479000	0.27511	0.205000	0.17691	CGC		0.562	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			5	399	0	0	0	1	0	5	399					T	117087391	C	T	117087391	3	4	22	1	0	0	0	0	1	0	0	0	11309	768	27	1	517	1	ORM1	9	117087391	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	7000191	117087391	24126040	40	2754											
PTGES	9536	broad.mit.edu	37	chr9	132502126	132502126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtagatggtctccatgtCgttccggtgggccctgggga	18	9	1	1	rs200179410		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:132502126C>T	ENST00000340607.4	-	3	257	c.223G>A	c.(223-225)Gac>Aac	p.D75N	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	75	Glutathione binding.				acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTCTCCATGTCGTTCCGGTGG	0.572																																						ENST00000340607.4																			0				lung(1)|skin(1)	2						c.(223-225)Gac>Aac		prostaglandin E synthase							60	39	46					9																	132502126		2192	4291	6483	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132502126C>T	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.223G>A	9.37:g.132502126C>T	ENSP00000342385:p.Asp75Asn					PTGES_ENST00000481476.1_5'UTR	p.D75N	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN			3	257	-		Ovarian(14;0.00556)	75			Glutathione binding.		O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.223G>A	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061297	0.93846	.	.	ENSG00000148344	ENST00000340607	T	0.57436	0.4	4.47	4.47	0.54385	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.87932	D	0	-45.6917	16.6593	0.85237	0.0:1.0:0.0:0.0	.	75	O14684	PTGES_HUMAN	N	75	ENSP00000342385:D75N	ENSP00000342385:D75N	D	-	1	0	PTGES	131541947	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.548000	0.82154	2.463000	0.83235	0.462000	0.41574	GAC		0.572	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		17	16	0	0	0	1	0	17	16					T	132502126	C	T	132502126	3	4	22	1	0	0	0	0	1	0	0	0	12794	884	31	1	239	1	PTGES	9	132502126	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	15414735	132502126	8711305	41	2755											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	12	11	1	0	rs571576756		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135	149	144					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		6	846	0	0	0	1	0	6	846					A	133364801	G	A	133364801	3	1	22	1	0	0	0	0	1	0	0	0	1062	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	862675	133364801	7848630	42	2756											
CACNA1B	774	broad.mit.edu	37	chr9	140880925	140880925	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactccatgaagtccatcatCagcctgctcttcttgctctt	5	14	5	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr9:140880925C>A	ENST00000371372.1	+	14	1975	c.1830C>A	c.(1828-1830)atC>atA	p.I610I	CACNA1B_ENST00000277551.2_Silent_p.I610I|CACNA1B_ENST00000371357.1_Silent_p.I611I|CACNA1B_ENST00000371355.4_Silent_p.I611I|CACNA1B_ENST00000371363.1_Silent_p.I610I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	610					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCCATCATCAGCCTGCTCT	0.617																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1828-1830)atC>atA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						73	79	77					9																	140880925		2138	4261	6399	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140880925C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1830C>A	9.37:g.140880925C>A						CACNA1B_ENST00000371355.4_Silent_p.I611I|CACNA1B_ENST00000371357.1_Silent_p.I611I|CACNA1B_ENST00000277551.2_Silent_p.I610I|CACNA1B_ENST00000371363.1_Silent_p.I610I|CACNA1B_ENST00000277549.5_5'UTR	p.I610I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	14	1975	+	all_cancers(76;0.166)		610					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1830C>A	CCDS59522.1																																																																																				0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		60	83	1	0	3.00387e-57	1	3.45982e-57	60	83					A	140880925	C	A	140880925	2	1	22	1	0	0	0	0	0	0	0	1	2546	816	29	3		3	CACNA1B	9	140880925	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	7516124	140880925	332506	43	2757											
EPC1	80314	broad.mit.edu	37	chr10	32561075	32561075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgcactagcagaatcCaaagtcttagaaacaaaacc	6	10	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:32561075C>G	ENST00000263062.8	-	13	2222	c.1953G>C	c.(1951-1953)ttG>ttC	p.L651F	EPC1_ENST00000375110.2_Missense_Mutation_p.L578F|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.L628F	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	651					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TAGCAGAATCCAAAGTCTTAG	0.368																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1882-1884)ttG>ttC		enhancer of polycomb homolog 1 (Drosophila)							55	50	51					10																	32561075		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32561075C>G	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1953G>C	10.37:g.32561075C>G	ENSP00000263062:p.Leu651Phe					EPC1_ENST00000263062.8_Missense_Mutation_p.L651F|EPC1_ENST00000375110.2_Missense_Mutation_p.L578F	p.L628F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			12	2186	-		Prostate(175;0.0199)	651					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1884G>C	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159682	0.78226	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T	0.17054	2.3;2.3	5.78	5.78	0.91487	.	0.066683	0.64402	D	0.000007	T	0.35856	0.0946	L	0.52573	1.65	0.58432	D	0.999995	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.87578	0.94;0.956;0.998	T	0.02026	-1.1227	10	0.72032	D	0.01	-6.6916	13.2984	0.60311	0.0:0.9278:0.0:0.0722	.	578;628;651	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	F	578;628;651	ENSP00000364251:L578F;ENSP00000318559:L628F	ENSP00000263062:L651F	L	-	3	2	EPC1	32601081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.768000	0.55295	2.749000	0.94314	0.460000	0.39030	TTG		0.368	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			114	19	0	0	0	1	0	114	19					G	32561075	C	G	32561075	3	3	22	1	0	0	0	0	1	0	0	0	5178	593	21	5	569	5	EPC1	10	32561075	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		32561075	102973672	44	2758											
TMEM26	219623	broad.mit.edu	37	chr10	63170286	63170286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccaccaagcggtagaGttgcaacaccaccacgagga	10	14	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:63170286G>T	ENST00000399298.3	-	6	1269	c.901C>A	c.(901-903)Ctc>Atc	p.L301I	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	301						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGCGGTAGAGTTGCAACACC	0.517																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(901-903)Ctc>Atc		transmembrane protein 26							112	116	115					10																	63170286		2105	4229	6334	SO:0001583	missense	219623					integral to membrane		g.chr10:63170286G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.901C>A	10.37:g.63170286G>T	ENSP00000382237:p.Leu301Ile					TMEM26_ENST00000507507.1_5'UTR	p.L301I	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1269	-	Prostate(12;0.0112)		301					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.901C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593080	0.46214	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	2.84	0.33178	.	0.210298	0.41097	D	0.000954	T	0.38612	0.1047	L	0.41710	1.295	0.80722	D	1	P	0.34934	0.476	B	0.33620	0.167	T	0.10359	-1.0633	9	0.39692	T	0.17	-4.268	6.7335	0.23397	0.2071:0.0:0.6673:0.1256	.	301	Q6ZUK4	TMM26_HUMAN	I	301	.	ENSP00000382237:L301I	L	-	1	0	TMEM26	62840292	0.659000	0.27411	0.407000	0.26434	0.743000	0.42351	0.932000	0.28884	0.331000	0.23511	0.655000	0.94253	CTC		0.517	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		7	213	1	0	0.000157383	1	0.000165061	7	213					T	63170286	G	T	63170286	3	4	22	1	0	0	0	0	1	0	0	0	16203	1029	36	3	209	3	TMEM26	10	63170286	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	30609211	63170286	72364461	45	2759											
EIF3A	8661	broad.mit.edu	37	chr10	120818809	120818809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcttatctgctctgaaGgcatgctttgcaaatgagga	11	7	3	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr10:120818809G>A	ENST00000369144.3	-	11	1671	c.1544C>T	c.(1543-1545)cCt>cTt	p.P515L	SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.P481L|SNORA19_ENST00000384737.1_RNA	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)			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)		CTGCTCTGAAGGCATGCTTTG	0.443																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1543-1545)cCt>cTt		eukaryotic translation initiation factor 3, subunit A							156	145	149					10																	120818809		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.chr10:120818809G>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.1544C>T	10.37:g.120818809G>A	ENSP00000358140:p.Pro515Leu					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P481L	p.P515L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	11	1671	-		Lung NSC(174;0.094)|all_lung(145;0.123)	515					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1544C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402420	0.83230	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.48836	0.8;0.8	5.55	5.55	0.83447	.	0.000000	0.39210	N	0.001435	T	0.73179	0.3554	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76302	-0.3009	10	0.66056	D	0.02	-19.8388	19.5144	0.95157	0.0:0.0:1.0:0.0	.	515	Q14152	EIF3A_HUMAN	L	515;481	ENSP00000358140:P515L;ENSP00000438178:P481L	ENSP00000358140:P515L	P	-	2	0	EIF3A	120808799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.618000	0.88619	0.655000	0.94253	CCT		0.443	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		76	284	0	0	0	1	0	76	284					A	120818809	G	A	120818809	3	1	22	1	0	0	0	0	1	0	0	0	5028	1000	35	2	2652	2	EIF3A	10	120818809	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	57648523	120818809	14715938	46	2760											
OR4C15	81309	broad.mit.edu	37	chr11	55322061	55322061	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacattgcaactgttgggggCaacatgctaattgtagtaac	10	7	0	0	rs368672576		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:55322061C>A	ENST00000314644.2	+	1	279	c.279C>A	c.(277-279)ggC>ggA	p.G93G		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGTTGGGGGCAACATGCTAA	0.433										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(277-279)ggC>ggA		olfactory receptor, family 4, subfamily C, member 15							155	133	140					11																	55322061		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322061C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.279C>A	11.37:g.55322061C>A		HNSCC(20;0.049)					p.G93G	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	279	+			39					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.279C>A	CCDS31501.1																																																																																				0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		6	434	1	0	2.7689e-08	1	3.0792e-08	6	434					A	55322061	C	A	55322061	2	1	22	1	0	0	0	0	0	0	0	1	11090	697	25	3		3	OR4C15	11	55322061	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		55322061	79684455	47	2761											
GANAB	23193	broad.mit.edu	37	chr11	62406863	62406863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatcagatggaccgtgaGggaatcaggaccaagctgta	14	7	2	2	rs143393884	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:62406863G>A	ENST00000356638.3	-	3	236	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	GANAB_ENST00000346178.4_Missense_Mutation_p.L74F|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	74					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGACCGTGAGGGAATCAGGA	0.567													G|||	5	0.000998403	0.003	0.0014	5008	,	,		18158	0.0		0.0	False		,,,				2504	0.0				Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(220-222)Ctc>Ttc		glucosidase, alpha; neutral AB		G	PHE/LEU,PHE/LEU	14,4390	21.2+/-45.6	0,14,2188	105	98	100		220,220	2.9	0.9	11	dbSNP_134	100	0,8598		0,0,4299	yes	missense,missense	GANAB	NM_198334.1,NM_198335.2	22,22	0,14,6487	AA,AG,GG		0.0,0.3179,0.1077	benign,benign	74/945,74/967	62406863	14,12988	2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62406863G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.220C>T	11.37:g.62406863G>A	ENSP00000349053:p.Leu74Phe					GANAB_ENST00000534779.1_Intron|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.L74F|GANAB_ENST00000534422.1_5'UTR	p.L74F	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			3	235	-			74					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.220C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094955	0.36952	0.003179	0.0	ENSG00000089597	ENST00000346178;ENST00000356638	D;D	0.90004	-2.6;-2.5	4.79	2.91	0.33838	Glycoside hydrolase-type carbohydrate-binding (1);	0.295070	0.33217	N	0.005160	D	0.86351	0.5912	M	0.81497	2.545	0.80722	D	1	B;P	0.35011	0.204;0.48	B;B	0.35312	0.099;0.2	T	0.82402	-0.0475	10	0.56958	D	0.05	-11.9555	3.4842	0.07614	0.0914:0.1719:0.5585:0.1783	.	74;74	Q14697;Q14697-2	GANAB_HUMAN;.	F	74	ENSP00000340466:L74F;ENSP00000349053:L74F	ENSP00000340466:L74F	L	-	1	0	GANAB	62163439	0.991000	0.36638	0.919000	0.36401	0.880000	0.50808	2.059000	0.41384	0.631000	0.30412	-1.106000	0.02097	CTC		0.567	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		54	181	0	0	0	1	0	54	181					A	62406863	G	A	62406863	3	1	22	1	0	0	0	0	1	0	0	0	6261	1000	35	2	2772	2	GANAB	11	62406863	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	7084802	62406863	72599653	48	2762											
MEN1	4221	broad.mit.edu	37	chr11	64574572	64574572	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaggccatggggtaccTaggaaaggatcataattcag	11	9	2	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:64574572T>C	ENST00000337652.1	-	6	1343		c.e6-2		MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000377313.1_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000394376.1_Splice_Site	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGGGGTACCTAGGAAAGGAT	0.622			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CS973732	MEN1	S		c.e6-2		multiple endocrine neoplasia I							51	55	54					11																	64574572		2201	4297	6498	SO:0001630	splice_region_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64574572T>C	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.840-2A>G	11.37:g.64574572T>C						MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000394376.1_Splice_Site|MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000377313.1_Splice_Site		NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			6	1343	-								A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Splice_Site	SNP	ENST00000337652.1	37		CCDS8083.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806945	0.50421	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.599	0.50990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEN1	64331148	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	6.401000	0.73256	1.690000	0.51089	0.379000	0.24179	.		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		Intron	78	13	0	0	0	1	0	78	13					C	64574572	T	C	64574572	5	2	22	1	0	0	0	0	0	0	1	0	9513	1536	53	4	1029	4	MEN1	11	64574572	Splice_Site	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	2167709	64574572	70431944	49	2763											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacacatcgatggagttctCgctgaacactgtcaggtagg	11	9	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:64595223C>T	ENST00000342711.5	-	31	3999	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATGGAGTTCTCGCTGAACACT	0.637																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4000-4002)Gag>Aag		CDC42 binding protein kinase gamma (DMPK-like)							106	88	94					11																	64595223		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595223C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4000G>A	11.37:g.64595223C>T	ENSP00000345133:p.Glu1334Lys						p.E1334K	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			31	3999	-			1334			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.4000G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290905	0.95546	.	.	ENSG00000171219	ENST00000342711	T	0.04502	3.61	4.8	4.8	0.61643	Citron-like (2);	0.000000	0.43260	D	0.000595	T	0.22975	0.0555	M	0.80616	2.505	0.50467	D	0.999873	D	0.89917	1.0	D	0.77004	0.989	T	0.00792	-1.1564	10	0.87932	D	0	.	15.7563	0.78030	0.0:1.0:0.0:0.0	.	1334	Q6DT37	MRCKG_HUMAN	K	1334	ENSP00000345133:E1334K	ENSP00000345133:E1334K	E	-	1	0	CDC42BPG	64351799	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	6.808000	0.75206	2.398000	0.81561	0.462000	0.41574	GAG		0.637	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		51	80	0	0	0	1	0	51	80					T	64595223	C	T	64595223	3	4	22	1	0	0	0	0	1	0	0	0	3083	893	31	1	683	1	CDC42BPG	11	64595223	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	20651	64595223	70411293	50	2764											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810717	65810717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtagtatgcctcgggcGcgcgcaggaaggcctcgagc	17	13	0	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:65810717G>A	ENST00000312006.4	-	3	838	c.557C>T	c.(556-558)gCg>gTg	p.A186V	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A186V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	186					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCCTCGGGCGCGCGCAGGAA	0.677																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(556-558)gCg>gTg		galactose-3-O-sulfotransferase 3							33	37	35					11																	65810717		2201	4293	6494	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810717G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.557C>T	11.37:g.65810717G>A	ENSP00000308591:p.Ala186Val					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A186V	p.A186V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	838	-			186					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.557C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691456	0.48097	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15487	2.42;2.42	4.65	3.67	0.42095	.	0.623277	0.15977	N	0.235510	T	0.11452	0.0279	L	0.39898	1.24	0.25368	N	0.988729	B	0.34313	0.448	B	0.26517	0.07	T	0.15350	-1.0440	10	0.56958	D	0.05	-10.6257	5.3475	0.16018	0.1026:0.0:0.6951:0.2023	.	186	Q96A11	G3ST3_HUMAN	V	186	ENSP00000308591:A186V;ENSP00000434829:A186V	ENSP00000308591:A186V	A	-	2	0	GAL3ST3	65567293	0.996000	0.38824	1.000000	0.80357	0.941000	0.58515	3.910000	0.56371	2.304000	0.77564	0.561000	0.74099	GCG		0.677	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		5	121	0	0	0	1	0	5	121					A	65810717	G	A	65810717	3	1	22	1	0	0	0	0	1	0	0	0	6227	1087	38	1	742	1	GAL3ST3	11	65810717	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	1215494	65810717	69195799	51	2765											
KDM2A	22992	broad.mit.edu	37	chr11	67018081	67018081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagaggaggaggaagaGgaggaggaggaggaggaaga	26	0	0	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:67018081G>A	ENST00000529006.2	+	17	3026	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	860					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaagaggaggaggagg	0.657																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)gaG>gaA		lysine (K)-specific demethylase 2A							23	27	26					11																	67018081		2111	4226	6337	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018081G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2580G>A	11.37:g.67018081G>A						KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000308783.5_Silent_p.E318E	p.E860E	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3026	+			860					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2580G>A	CCDS44657.1																																																																																				0.657	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		4	82	0	0	0	1	0	4	82					A	67018081	G	A	67018081	2	1	22	1	0	0	0	0	0	0	0	1	8154	991	35	2		2	KDM2A	11	67018081	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	1207364	67018081	67988435	52	2766											
USP28	57646	broad.mit.edu	37	chr11	113679043	113679043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagtgccgcttctacacCgctcttctcataggcacggg	9	15	4	0	rs143699311		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:113679043C>T	ENST00000003302.4	-	18	2349	c.2281G>A	c.(2281-2283)Ggt>Agt	p.G761S	USP28_ENST00000545540.1_Missense_Mutation_p.G636S|USP28_ENST00000544967.1_Missense_Mutation_p.G469S|USP28_ENST00000260188.5_Missense_Mutation_p.G761S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G761S(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTCTACACCGCTCTTCTCA	0.522																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Missense(1)	p.G761S(1)	prostate(1)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2281-2283)Ggt>Agt		ubiquitin specific peptidase 28		C	SER/GLY	1,4401	2.1+/-5.4	0,1,2200	171	164	167		2281	5.4	0.5	11	dbSNP_134	167	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	761/1078	113679043	1,12993	2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679043C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2281G>A	11.37:g.113679043C>T	ENSP00000003302:p.Gly761Ser					USP28_ENST00000545540.1_Missense_Mutation_p.G636S|USP28_ENST00000260188.5_Missense_Mutation_p.G761S|USP28_ENST00000544967.1_Missense_Mutation_p.G469S	p.G761S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	18	2349	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	761					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2281G>A	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.227204|3.227204	0.58668|0.58668	2.27E-4|2.27E-4	0.0|0.0	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.50277|.	1.55;1.31;0.75;1.33|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.604154|.	0.18840|.	N|.	0.129709|.	T|T	0.57446|0.57446	0.2054|0.2054	N|N	0.25890|0.25890	0.77|0.77	0.58432|0.58432	D|D	0.999997|0.999997	B;D;P|.	0.76494|.	0.021;0.999;0.804|.	B;P;B|.	0.57679|.	0.002;0.825;0.336|.	T|T	0.50406|0.50406	-0.8832|-0.8832	10|5	0.18710|.	T|.	0.47|.	-11.9395|-11.9395	19.2891|19.2891	0.94092|0.94092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;761;469|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	S|Q	761;761;469;636|77	ENSP00000003302:G761S;ENSP00000260188:G761S;ENSP00000442431:G469S;ENSP00000444991:G636S|.	ENSP00000003302:G761S|.	G|R	-|-	1|2	0|0	USP28|USP28	113184253|113184253	0.996000|0.996000	0.38824|0.38824	0.502000|0.502000	0.27614|0.27614	0.329000|0.329000	0.28539|0.28539	5.473000|5.473000	0.66774|0.66774	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.522	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			427	94	0	0	0	1	0	427	94					T	113679043	C	T	113679043	3	4	22	1	0	0	0	0	1	0	0	0	17112	652	23	1	984	1	USP28	11	113679043	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	46660962	113679043	21327473	53	2767											
PVRL1	5818	broad.mit.edu	37	chr11	119535743	119535743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccggccttcttctcgtcgTctgagtcgtcggggtactgc	14	13	3	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr11:119535743T>C	ENST00000264025.3	-	6	1798	c.1268A>G	c.(1267-1269)gAc>gGc	p.D423G	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	423					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CTTCTCGTCGTCTGAGTCGTC	0.652																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1267-1269)gAc>gGc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							85	65	72					11																	119535743		2196	4291	6487	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535743T>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1268A>G	11.37:g.119535743T>C	ENSP00000264025:p.Asp423Gly					PVRL1_ENST00000341398.2_Intron	p.D423G	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1798	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	423					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1268A>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	16.77	3.215975	0.58452	.	.	ENSG00000110400	ENST00000264025	T	0.21031	2.03	3.9	3.9	0.45041	.	0.179365	0.46145	D	0.000312	T	0.37461	0.1004	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15464	-1.0436	10	0.62326	D	0.03	.	12.6248	0.56623	0.0:0.0:0.0:1.0	.	423	Q15223	PVRL1_HUMAN	G	423	ENSP00000264025:D423G	ENSP00000264025:D423G	D	-	2	0	PVRL1	119040953	1.000000	0.71417	0.995000	0.50966	0.580000	0.36256	7.436000	0.80404	1.712000	0.51347	0.392000	0.25879	GAC		0.652	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	180	0	0	0	1	0	8	180					C	119535743	T	C	119535743	3	2	22	1	0	0	0	0	1	0	0	0	12889	1667	58	4	675	4	PVRL1	11	119535743	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	5856700	119535743	15470773	54	2768											
ACSM4	341392	broad.mit.edu	37	chr12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-													tcctttgggaaccatgaagaTttttttccgctaccagacat							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134	130	131					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	899						8	899	---	---	---	---	-	7456935	T	-	7456935	7	5	22	1	0	1	0	1	0	0	0	0	186	1493	52	0	10	0	ACSM4	12	7456935	Frame_Shift_Del	DEL	T	TCGA-2L-AAQM-01A-11D-A397-08		7456935	126394960	55	2769											
SLC2A14	144195	broad.mit.edu	37	chr12	7972131	7972131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaaagccatccctccaaGgcctatcatatgcagagtcc	6	14	1	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:7972131G>T	ENST00000543909.1	-	14	1846	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I	SLC2A14_ENST00000340749.5_Missense_Mutation_p.L340I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L378I|SLC2A14_ENST00000542505.1_Missense_Mutation_p.L4I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L363I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L340I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	363					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATCCCTCCAAGGCCTATCATA	0.428																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1087-1089)Ctt>Att		solute carrier family 2 (facilitated glucose transporter), member 14							61	54	57					12																	7972131		2203	4297	6500	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7972131G>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1087C>A	12.37:g.7972131G>T	ENSP00000440480:p.Leu363Ile					SLC2A14_ENST00000542505.1_Missense_Mutation_p.L4I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L363I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L378I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L340I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L340I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L254I	p.L363I			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	14	1846	-			363					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1087C>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205498	0.58234	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	2.56	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.77336	0.4115	L	0.60957	1.885	0.45747	D	0.998642	P;P;D;P	0.54047	0.932;0.932;0.964;0.566	P;P;P;B	0.59357	0.777;0.856;0.596;0.403	T	0.77011	-0.2746	10	0.66056	D	0.02	.	7.0001	0.24805	0.1566:0.0:0.8434:0.0	.	378;254;340;363	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	I	340;363;340;4;363;254;254;378	ENSP00000340450:L340I;ENSP00000440480:L363I;ENSP00000407287:L340I;ENSP00000438484:L4I;ENSP00000379834:L363I;ENSP00000440492:L254I;ENSP00000443903:L254I;ENSP00000445929:L378I	ENSP00000340450:L340I	L	-	1	0	SLC2A14	7863398	1.000000	0.71417	0.995000	0.50966	0.369000	0.29798	2.128000	0.42045	1.432000	0.47375	0.184000	0.17185	CTT		0.428	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		6	480	1	0	5.18039e-06	1	5.61572e-06	6	480					T	7972131	G	T	7972131	3	4	22	1	0	0	0	0	1	0	0	0	14593	1000	35	3	487	3	SLC2A14	12	7972131	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	515196	7972131	125879764	56	2770											
PRB2	653247	broad.mit.edu	37	chr12	11546056	11546056	+	Frame_Shift_Del	DEL	G	G	-													gtggctttcctggaggaggtGggggaccttgaggctggttg							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:11546056delG	ENST00000389362.4	-	3	991	c.956delC	c.(955-957)ccafs	p.P322fs	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	322	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGGGGACCTTG	0.612																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(955-957)cafs		proline-rich protein BstNI subfamily 2							88	113	104					12																	11546056		2170	4266	6436	SO:0001589	frameshift_variant	653247							g.chr12:11546056delG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.956delC	12.37:g.11546056delG	ENSP00000374013:p.Pro322fs					PRB1_ENST00000546254.1_Intron	p.P322fs	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	991	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Frame_Shift_Del	DEL	ENST00000389362.4	37	c.956delC	CCDS41757.2																																																																																				0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	871						7	871	---	---	---	---	-	11546056	G	-	11546056	7	5	22	1	0	1	0	1	0	0	0	0	12490	1348	47	0	298	0	PRB2	12	11546056	Frame_Shift_Del	DEL	G	TCGA-2L-AAQM-01A-11D-A397-08	3573925	11546056	122305839	57	2771											
IKBIP	121457	broad.mit.edu	37	chr12	99007736	99007736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctgtctttcggagcGttgctgttcgatcaatactg	11	9	2	1	rs199829512	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:99007736G>A	ENST00000342502.2	-	3	1091	c.680C>T	c.(679-681)aCg>aTg	p.T227M	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.T121M	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	227					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTTCGGAGCGTTGCTGTTCG	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0031					ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(679-681)aCg>aTg		IKBKB interacting protein		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	91	87	88		680,	-3.6	0.5	12		88	0,8600		0,0,4300	yes	missense,utr-3	IKBIP	NM_201612.1,NM_201613.1	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	227/351,	99007736	1,13003	2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007736G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.680C>T	12.37:g.99007736G>A	ENSP00000343471:p.Thr227Met					IKBIP_ENST00000420861.1_Missense_Mutation_p.T121M|IKBIP_ENST00000393042.3_3'UTR	p.T227M	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1091	-			227					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.680C>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259706	0.23051	2.27E-4	0.0	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.44083	0.94;0.93	5.24	-3.64	0.04515	.	.	.	.	.	T	0.14614	0.0353	N	0.02011	-0.69	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.20240	-1.0281	9	0.45353	T	0.12	.	6.143	0.20271	0.2018:0.0:0.431:0.3672	.	227	Q70UQ0	IKIP_HUMAN	M	227;121	ENSP00000343471:T227M;ENSP00000398023:T121M	ENSP00000343471:T227M	T	-	2	0	IKBIP	97531867	0.000000	0.05858	0.480000	0.27341	0.914000	0.54420	-0.141000	0.10327	-0.257000	0.09459	-0.302000	0.09304	ACG		0.333	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		19	416	0	0	0	1	0	19	416					A	99007736	G	A	99007736	3	1	22	1	0	0	0	0	1	0	0	0	7639	1145	40	1	376	1	IKBIP	12	99007736	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	87461680	99007736	34844159	58	2772											
FBXO21	23014	broad.mit.edu	37	chr12	117595774	117595774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccacctcctcctttttgCgctcaatgtgctctagagtg	8	15	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:117595774C>T	ENST00000330622.5	-	10	1441	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	FBXO21_ENST00000427718.2_Missense_Mutation_p.R474H			O94952	FBX21_HUMAN	F-box protein 21	481					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTCCTTTTTGCGCTCAATGTG	0.562																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1420-1422)cGc>cAc		F-box protein 21							232	206	215					12																	117595774		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595774C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1442G>A	12.37:g.117595774C>T	ENSP00000328187:p.Arg481His					FBXO21_ENST00000330622.5_Missense_Mutation_p.R481H	p.R474H	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1495	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		481					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1421G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493532	0.44352	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	T;T	0.49720	0.81;0.77	5.02	5.02	0.67125	F-box domain, Skp2-like (1);	0.060255	0.64402	D	0.000002	T	0.25306	0.0615	N	0.04508	-0.205	0.47276	D	0.999374	B;B;B;B	0.22276	0.013;0.002;0.056;0.067	B;B;B;B	0.17722	0.003;0.001;0.005;0.019	T	0.08911	-1.0699	10	0.32370	T	0.25	-9.4833	11.9286	0.52833	0.0:0.9212:0.0:0.0788	.	330;224;481;474	Q8IUQ5;B3KQC8;O94952;O94952-1	.;.;FBX21_HUMAN;.	H	474;390;330;481;133	ENSP00000414468:R474H;ENSP00000328187:R481H	ENSP00000257563:R390H	R	-	2	0	FBXO21	116080157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.535000	0.60629	2.607000	0.88179	0.655000	0.94253	CGC		0.562	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		8	1191	0	0	0	1	0	8	1191					T	117595774	C	T	117595774	3	4	22	1	0	0	0	0	1	0	0	0	5758	768	27	1	456	1	FBXO21	12	117595774	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	18588038	117595774	16256121	59	2773											
CIT	11113	broad.mit.edu	37	chr12	120159148	120159148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgatactccaagtcacttCtttctgtcttcagtagatca	6	11	6	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:120159148C>T	ENST00000261833.7	-	28	3624	c.3572G>A	c.(3571-3573)aGa>aAa	p.R1191K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1233K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1191	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAAGTCACTTCTTTCTGTCTT	0.483																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3697-3699)aGa>aAa		citron (rho-interacting, serine/threonine kinase 21)							138	119	125					12																	120159148		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120159148C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3572G>A	12.37:g.120159148C>T	ENSP00000261833:p.Arg1191Lys					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1191K	p.R1233K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	29	3753	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1191			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3698G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.734|9.734	1.163090|1.163090	0.21538|0.21538	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.02;-0.05	5.91|5.91	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.42245|0.42245	1.32|1.32	0.46725|0.46725	D|D	0.999176|0.999176	.|B;B;B	.|0.25169	.|0.005;0.005;0.119	.|B;B;B	.|0.17722	.|0.004;0.004;0.019	T|T	0.47156|0.47156	-0.9139|-0.9139	5|10	.|0.07175	.|T	.|0.84	.|.	15.1434|15.1434	0.72630|0.72630	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|1233;1191;724	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|K	819|1233;1191	.|ENSP00000376306:R1233K;ENSP00000261833:R1191K	.|ENSP00000261833:R1191K	E|R	-|-	1|2	0|0	CIT|CIT	118643531|118643531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.089000|6.089000	0.71384|0.71384	1.509000|1.509000	0.48786|0.48786	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	286	0	0	0	1	0	5	286					T	120159148	C	T	120159148	3	4	22	1	0	0	0	0	1	0	0	0	3447	913	32	2	2591	2	CIT	12	120159148	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	2563374	120159148	13692747	60	2774											
PITPNM2	57605	broad.mit.edu	37	chr12	123472826	123472826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccacttctcccttggCtttgagggggtgaacaccga	12	13	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123472826C>T	ENST00000542749.1	-	18	3015	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K	PITPNM2_ENST00000392428.1_Silent_p.K705K|PITPNM2_ENST00000320201.4_Silent_p.K984K|PITPNM2_ENST00000280562.5_Silent_p.K978K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	984					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCTCCCTTGGCTTTGAGGGGG	0.642																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2932-2934)aaG>aaA		phosphatidylinositol transfer protein, membrane-associated 2							118	119	118					12																	123472826		2203	4299	6502	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472826C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2952G>A	12.37:g.123472826C>T						PITPNM2_ENST00000542749.1_Silent_p.K984K|PITPNM2_ENST00000320201.4_Silent_p.K984K|PITPNM2_ENST00000392428.1_Silent_p.K705K	p.K978K			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3139	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Silent	SNP	ENST00000542749.1	37	c.2934G>A	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		28	826	0	0	0	1	0	28	826					T	123472826	C	T	123472826	2	4	22	1	0	0	0	0	0	0	0	1	11993	796	28	2		2	PITPNM2	12	123472826	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	3313678	123472826	10379069	61	2775											
PITPNM2	57605	broad.mit.edu	37	chr12	123474421	123474421	+	Missense_Mutation	SNP	T	T	G													agggtgggggccaggggtggTggggctgggggcgggcaggg							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123474421T>G	ENST00000542749.1	-	16	2707	c.2644A>C	c.(2644-2646)Acc>Ccc	p.T882P	PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.T882P|PITPNM2_ENST00000280562.5_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	882	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGGGGTGGTGGGGCTGGGG	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2644-2646)Acc>Ccc		phosphatidylinositol transfer protein, membrane-associated 2							3	4	4					12																	123474421		1635	3249	4884	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474421T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2644A>C	12.37:g.123474421T>G	ENSP00000437611:p.Thr882Pro					PITPNM2_ENST00000542749.1_Missense_Mutation_p.T882P|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P	p.T882P	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2782	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		882			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2644A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	11.12	1.544787	0.27563	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44881	1.23;0.91;1.23	5.25	-8.06	0.01102	DDHD (2);	0.739382	0.11123	U	0.597255	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10405	-1.0631	10	0.35671	T	0.21	-6.3214	1.0848	0.01650	0.2899:0.2814:0.0983:0.3304	.	882	Q9BZ72	PITM2_HUMAN	P	882;603;882	ENSP00000322218:T882P;ENSP00000376223:T603P;ENSP00000437611:T882P	ENSP00000322218:T882P	T	-	1	0	PITPNM2	122040374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.305000	0.01133	-1.500000	0.01819	-0.473000	0.04963	ACC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	59	0	0	0	1	0	6	59					G	123474421	T	G	123474421	3	3	22	1	0	0	0	0	1	0	0	0	11993	1696	59	4	1441	4	PITPNM2	12	123474421	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	1595	123474421	10377474	62	2776	17	2									
PITPNM2	57605	broad.mit.edu	37	chr12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G													ggggccaggggtggtggggcTgggggcgggcagggcgagca							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr12:123474427T>G	ENST00000542749.1	-	16	2701	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S880R|PITPNM2_ENST00000280562.5_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2638-2640)Agc>Cgc		phosphatidylinositol transfer protein, membrane-associated 2							2	3	2					12																	123474427		1321	2883	4204	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474427T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2638A>C	12.37:g.123474427T>G	ENSP00000437611:p.Ser880Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R	p.S880R	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		880			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2638A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	8.105	0.777545	0.16120	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44083	1.25;0.93;1.25	5.25	-10.5	0.00291	DDHD (2);	1.325000	0.05462	U	0.551478	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.28991	0.097	T	0.32903	-0.9889	10	0.44086	T	0.13	-0.586	3.5902	0.07986	0.4413:0.3133:0.0929:0.1526	.	880	Q9BZ72	PITM2_HUMAN	R	880;601;880	ENSP00000322218:S880R;ENSP00000376223:S601R;ENSP00000437611:S880R	ENSP00000322218:S880R	S	-	1	0	PITPNM2	122040380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.610000	0.00209	-4.103000	0.00073	-2.971000	0.00081	AGC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	36	0	0	0	1	0	6	36					G	123474427	T	G	123474427	3	3	22	1	0	0	0	0	1	0	0	0	11993	1580	55	4	1447	4	PITPNM2	12	123474427	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	6	123474427	10377468	63	2777	17	2									
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		11	431						11	431	---	---	---	---	-	20426145	CAT	-	20426143	7	5	22	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-2L-AAQM-01A-11D-A397-08		20426143	94743735	64	2778											
FRY	10129	broad.mit.edu	37	chr13	32841383	32841383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgccgcctttcagcccGcagcctgtgacgatgccgag	11	16	1	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:32841383G>A	ENST00000380250.3	+	55	8519	c.8023G>A	c.(8023-8025)Gca>Aca	p.A2675T	FRY_ENST00000542859.1_Missense_Mutation_p.A45T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2675						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTTCAGCCCGCAGCCTGTGA	0.547																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8023-8025)Gca>Aca		furry homolog (Drosophila)							97	104	102					13																	32841383		2055	4196	6251	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841383G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8023G>A	13.37:g.32841383G>A	ENSP00000369600:p.Ala2675Thr					FRY_ENST00000542859.1_Missense_Mutation_p.A45T	p.A2675T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8519	+		Lung SC(185;0.0271)	2675					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8023G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061486	0.19987	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.23552	1.9	5.52	-7.8	0.01214	.	0.559083	0.20315	N	0.094751	T	0.08714	0.0216	N	0.02916	-0.46	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.11182	T	0.66	.	18.6285	0.91350	0.8013:0.0:0.1987:0.0	.	456;2675	Q8NB82;Q5TBA9	.;FRY_HUMAN	T	2675;319;45	ENSP00000369600:A2675T	ENSP00000369567:A319T	A	+	1	0	FRY	31739383	0.001000	0.12720	0.002000	0.10522	0.620000	0.37586	-0.170000	0.09897	-2.024000	0.00936	-0.761000	0.03458	GCA		0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	865	0	0	0	1	0	7	865					A	32841383	G	A	32841383	3	1	22	1	0	0	0	0	1	0	0	0	6090	1087	38	1	8241	1	FRY	13	32841383	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	12415240	32841383	82328495	65	2779											
LIG4	3981	broad.mit.edu	37	chr13	108861737	108861737	+	Frame_Shift_Del	DEL	T	T	-													tctttggggcagctttccgcTttttttcttgtggttcatca							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr13:108861737delT	ENST00000356922.4	-	2	2152	c.1880delA	c.(1879-1881)aagfs	p.K627fs	LIG4_ENST00000405925.1_Frame_Shift_Del_p.K627fs|LIG4_ENST00000442234.1_Frame_Shift_Del_p.K627fs	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	627					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCTTTCCGCTTTTTTTCTTG	0.383								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1879-1881)agfs	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							71	72	72					13																	108861737		2203	4300	6503	SO:0001589	frameshift_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861737delT	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1880delA	13.37:g.108861737delT	ENSP00000349393:p.Lys627fs					LIG4_ENST00000442234.1_Frame_Shift_Del_p.K627fs|LIG4_ENST00000405925.1_Frame_Shift_Del_p.K627fs	p.K627fs	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2152	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		627					Q8IY66|Q8TEU5	Frame_Shift_Del	DEL	ENST00000356922.4	37	c.1880delA	CCDS9508.1																																																																																				0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		8	497						8	497	---	---	---	---	-	108861737	T	-	108861737	7	5	22	1	0	1	0	1	0	0	0	0	8815	1609	56	0	859	0	LIG4	13	108861737	Frame_Shift_Del	DEL	T	TCGA-2L-AAQM-01A-11D-A397-08	76020354	108861737	6308141	66	2780											
SIP1	8487	broad.mit.edu	37	chr14	39597482	39597482	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccccctctttttttttttAggcaacagtaactagtgtct	5	11	2	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											TTTTTTTTTTAGGCAACAGTA	0.308																																						ENST00000308317.6																			0											c.e7-1		gem (nuclear organelle) associated protein 2							66	71	69					14																	39597482		2203	4300	6503	SO:0001630	splice_region_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597482A>T	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"survival of motor neuron protein interacting protein 1"	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.565-1A>T	14.37:g.39597482A>T						GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site		NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			7	647	+								B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Splice_Site	SNP	ENST00000308317.6	37		CCDS9669.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100661	0.76983	.	.	ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379;ENST00000527381	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3281	0.66534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEMIN2	38667233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.625000	0.74248	2.330000	0.79161	0.528000	0.53228	.		0.308	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		Intron	9	344	0	0	0	1	0	9	344					T	39597482	A	T	39597482	5	4	22	1	0	0	0	0	0	0	1	0	14377	434	15	5	589	5	SIP1	14	39597482	Splice_Site	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08		39597482	67752058	67	2781											
ESRRB	2103	broad.mit.edu	37	chr14	76905998	76905998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacgccatccccaagcGcctgtgcctcgtgtgcgggg	13	16	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:76905998G>A	ENST00000509242.1	+	3	400	c.302G>A	c.(301-303)cGc>cAc	p.R101H	ESRRB_ENST00000380887.2_Missense_Mutation_p.R101H|ESRRB_ENST00000556177.1_Missense_Mutation_p.R101H|ESRRB_ENST00000261532.7_Missense_Mutation_p.R101H|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	101					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCCCCAAGCGCCTGTGCCTC	0.622																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(301-303)cGc>cAc		estrogen-related receptor beta							64	59	61					14																	76905998		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905998G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.302G>A	14.37:g.76905998G>A	ENSP00000422488:p.Arg101His					ESRRB_ENST00000509242.1_Missense_Mutation_p.R101H|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.R101H|ESRRB_ENST00000261532.7_Missense_Mutation_p.R101H	p.R101H			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	374	+			101					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.302G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	34	5.331505	0.95733	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97506	1.0063	10	0.37606	T	0.19	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	101;106	Q5F0P7;E7EWD9	.;.	H	106;101;101;101;101	ENSP00000424992:R106H;ENSP00000422488:R101H;ENSP00000451658:R101H;ENSP00000370270:R101H;ENSP00000261532:R101H	ENSP00000261532:R101H	R	+	2	0	ESRRB	75975751	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.818000	0.99354	2.377000	0.81083	0.655000	0.94253	CGC		0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			101	100	0	0	0	1	0	101	100					A	76905998	G	A	76905998	3	1	22	1	0	0	0	0	1	0	0	0	5279	1087	38	1	304	1	ESRRB	14	76905998	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	37308516	76905998	30443542	68	2782											
SERPINA5	5104	broad.mit.edu	37	chr14	95058575	95058575	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcaaagtgaaccgcccctGaggtggggcttctcctgaaa	13	11	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:95058575G>T	ENST00000554866.1	+	5	1334	c.1220G>T	c.(1219-1221)tGa>tTa	p.*407L	SERPINA5_ENST00000329597.7_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000553780.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000554276.1_Nonstop_Mutation_p.*407L|RP11-986E7.7_ENST00000553947.1_Intron			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	0					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AACCGCCCCTGAGGTGGGGCT	0.527																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1219-1221)tGa>tTa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						123	142	136					14																	95058575		2203	4300	6503	SO:0001578	stop_lost	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058575G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1220G>T	14.37:g.95058575G>T	ENSP00000451126:p.*407Leuext*15					SERPINA5_ENST00000554276.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000554866.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000553780.1_Nonstop_Mutation_p.*407L|SERPINA3_ENST00000553947.1_Intron	p.*407L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1430	+			0					Q07616|Q9UG30	Nonstop_Mutation	SNP	ENST00000554866.1	37	c.1220G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	7.539	0.660260	0.14645	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	.	.	.	4.95	1.82	0.25136	.	.	.	.	.	.	.	.	.	.	.	0.32665	N	0.517541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0487	0.30564	0.0864:0.3025:0.6111:0.0	.	.	.	.	L	407;407;407;259;331;407	.	.	X	+	2	2	SERPINA5	94128328	0.019000	0.18553	0.126000	0.21872	0.024000	0.10985	0.429000	0.21412	0.714000	0.32081	-0.150000	0.13652	TGA		0.527	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		12	1178	1	0	6.40141e-05	1	6.7687e-05	12	1178					T	95058575	G	T	95058575	4	4	22	1	0	0	0	0	0	0	0	0	14142	1285	45	3	1234	3	SERPINA5	14	95058575	Nonstop_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	18152577	95058575	12290965	69	2783											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-													atcgatgtacttttccttaaTcttcttcttcttcttcttgt					rs55793809	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del|HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		11	299						11	299	---	---	---	---	-	102551163	TCT	-	102551161	7	5	22	1	0	1	0	1	0	0	0	0	7431	1435	50	0	1388	0	HSP90AA1	14	102551161	In_Frame_Del	DEL	TCT	TCGA-2L-AAQM-01A-11D-A397-08	7492586	102551161	4798379	70	2784											
HYDIN	54768	broad.mit.edu	37	chr16	71101257	71101257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccaccacgagtgccaGctcgtatttctgcacagtgt	9	14	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:71101257G>A	ENST00000393567.2	-	15	2161	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	HYDIN_ENST00000538248.1_Silent_p.L698L|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000541601.1_Silent_p.L688L|HYDIN_ENST00000448691.1_Silent_p.L671L|HYDIN_ENST00000288168.10_Silent_p.L688L|HYDIN_ENST00000321489.5_Silent_p.L671L|HYDIN_ENST00000448089.2_Silent_p.L671L|HYDIN_ENST00000393550.2_Silent_p.L686L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	671					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACGAGTGCCAGCTCGTATTTC	0.532																																						ENST00000393567.2																			0				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						c.(2011-2013)Ctg>Ttg		HYDIN, axonemal central pair apparatus protein							77	66	70					16																	71101257		2198	4300	6498	SO:0001819	synonymous_variant	54768							g.chr16:71101257G>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.2011C>T	16.37:g.71101257G>A						HYDIN_ENST00000321489.5_Silent_p.L671L|HYDIN_ENST00000538248.1_Silent_p.L698L|HYDIN_ENST00000448089.2_Silent_p.L671L|HYDIN_ENST00000448691.1_Silent_p.L671L|HYDIN_ENST00000393550.2_Silent_p.L686L|HYDIN_ENST00000288168.10_Silent_p.L688L|HYDIN_ENST00000541601.1_Silent_p.L688L	p.L671L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			15	2161	-		Ovarian(137;0.0654)	671					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.2011C>T	CCDS59269.1																																																																																				0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	186	0	0	0	1	0	4	186					A	71101257	G	A	71101257	2	1	22	1	0	0	0	0	0	0	0	1	7497	962	34	2		2	HYDIN	16	71101257	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		71101257	19253496	71	2785											
CA5A	763	broad.mit.edu	37	chr16	87921837	87921837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccatcatcttctcctcTtcaccaagtgcagaaaacag	4	14	6	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr16:87921837T>G	ENST00000309893.2	-	7	881	c.816A>C	c.(814-816)gaA>gaC	p.E272D		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	272					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCTTCTCCTCTTCACCAAGTG	0.542																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(814-816)gaA>gaC		carbonic anhydrase VA, mitochondrial							62	55	57					16																	87921837		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921837T>G	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"Carbonic anhydrases"	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.816A>C	16.37:g.87921837T>G	ENSP00000309649:p.Glu272Asp						p.E272D	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	881	-			272					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.816A>C	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	t	16.40	3.111966	0.56398	.	.	ENSG00000174990	ENST00000309893	T	0.63417	-0.04	4.75	-1.35	0.09114	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.31804	0.96	0.49051	D	0.999748	D	0.65815	0.995	D	0.75484	0.986	T	0.56836	-0.7913	10	0.32370	T	0.25	-16.7858	10.7	0.45922	0.0:0.7225:0.0:0.2775	.	272	P35218	CAH5A_HUMAN	D	272	ENSP00000309649:E272D	ENSP00000309649:E272D	E	-	3	2	CA5A	86479338	0.597000	0.26874	0.962000	0.40283	0.587000	0.36485	-0.376000	0.07465	-0.185000	0.10550	0.254000	0.18369	GAA		0.542	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		58	8	0	0	0	1	0	58	8					G	87921837	T	G	87921837	3	3	22	1	0	0	0	0	1	0	0	0	2526	1606	56	4	105	4	CA5A	16	87921837	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	16820580	87921837	2432916	72	2786											
CHD3	1107	broad.mit.edu	37	chr17	7796784	7796784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagctgctgtctcgtcGgccacccccatagcaccctc	9	18	2	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:7796784G>A	ENST00000330494.7	+	5	840	c.690G>A	c.(688-690)tcG>tcA	p.S230S	CHD3_ENST00000358181.4_Silent_p.S230S|CHD3_ENST00000380358.4_Silent_p.S289S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	230					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGTCTCGTCGGCCACCCCCA	0.657																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(865-867)tcG>tcA		chromodomain helicase DNA binding protein 3							19	20	20					17																	7796784		2201	4296	6497	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796784G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.690G>A	17.37:g.7796784G>A						CHD3_ENST00000358181.4_Silent_p.S230S|CHD3_ENST00000330494.7_Silent_p.S230S	p.S289S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	868	+		Prostate(122;0.202)	230					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.867G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	3.770	-0.047905	0.07407	.	.	ENSG00000170004	ENST00000452447	.	.	.	4.82	-7.83	0.01201	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.45490	D	0.998458	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	-2.4564	3.0816	0.06264	0.5055:0.1419:0.2166:0.136	.	.	.	.	S	105	.	.	G	+	1	0	CHD3	7737509	0.002000	0.14202	0.268000	0.24571	0.737000	0.42083	-3.061000	0.00623	-1.131000	0.02910	-1.056000	0.02311	GGC		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	121	0	0	0	1	0	4	121					A	7796784	G	A	7796784	2	1	22	1	0	0	0	0	0	0	0	1	3335	1103	39	1		1	CHD3	17	7796784	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		7796784	73398426	73	2787											
MYH8	4626	broad.mit.edu	37	chr17	10298537	10298537	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctggatttccatttcattCagatctccttccattttctt	4	11	4	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:10298537C>A	ENST00000403437.2	-	34	4969	c.4875G>T	c.(4873-4875)ctG>ctT	p.L1625L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1625					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)			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						CCATTTCATTCAGATCTCCTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4873-4875)ctG>ctT		myosin, heavy chain 8, skeletal muscle, perinatal							297	262	274					17																	10298537		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10298537C>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.4875G>T	17.37:g.10298537C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1625L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4969	-			1625					Q14910	Silent	SNP	ENST00000403437.2	37	c.4875G>T	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	686	1	0	2.0095e-06	1	2.2156e-06	7	686					A	10298537	C	A	10298537	2	1	22	1	0	0	0	0	0	0	0	1	10082	813	29	3		3	MYH8	17	10298537	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	2501753	10298537	70896673	74	2788											
FAM83G	644815	broad.mit.edu	37	chr17	18882872	18882872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtcacctgtaggagcCgcacacagcccggtctccat	12	14	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:18882872C>T	ENST00000388995.6	-	4	1028	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G269S|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G269S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	269					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGTAGGAGCCGCACACAGCC	0.577																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(805-807)Ggc>Agc		family with sequence similarity 83, member G							46	56	53					17																	18882872		2014	4175	6189	SO:0001583	missense	644815							g.chr17:18882872C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.805G>A	17.37:g.18882872C>T	ENSP00000373647:p.Gly269Ser					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G269S|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G269S|SLC5A10_ENST00000395642.1_Intron	p.G269S			A6ND36	FA83G_HUMAN			4	1028	-			269					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.805G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874288	0.97055	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.72942	-0.7;-0.7	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89810	0.3981	10	0.87932	D	0	-45.8976	19.48	0.95005	0.0:1.0:0.0:0.0	.	269	A6ND36	FA83G_HUMAN	S	269	ENSP00000373647:G269S;ENSP00000343279:G269S	ENSP00000343279:G269S	G	-	1	0	FAM83G	18823597	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGC		0.577	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	240	0	0	0	1	0	4	240					T	18882872	C	T	18882872	3	4	22	1	0	0	0	0	1	0	0	0	5664	652	23	1	1678	1	FAM83G	17	18882872	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	8584335	18882872	62312338	75	2789											
KCNJ12	3768	broad.mit.edu	37	chr17	21319592	21319592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatgaccacccaggcccGcagctcctacctggccaatg	9	18	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:21319592G>A	ENST00000583088.1	+	3	1833	c.938G>A	c.(937-939)cGc>cAc	p.R313H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R313H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	313					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACCCAGGCCCGCAGCTCCTAC	0.592										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(937-939)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 12							108	109	108					17																	21319592		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319592G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.938G>A	17.37:g.21319592G>A	ENSP00000463778:p.Arg313His	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R313H	p.R313H	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1833	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.938G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814601	0.90790	.	.	ENSG00000184185	ENST00000331718	D	0.94897	-3.55	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	313	Q14500	IRK12_HUMAN	H	313	ENSP00000328150:R313H	ENSP00000328150:R313H	R	+	2	0	KCNJ12	21260185	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.698000	0.98700	2.561000	0.86390	0.561000	0.74099	CGC		0.592	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	627	0	0	0	1	0	5	627					A	21319592	G	A	21319592	3	1	22	1	0	0	0	0	1	0	0	0	8076	1087	38	1	940	1	KCNJ12	17	21319592	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	2436720	21319592	59875618	76	2790											
HNF1B	6928	broad.mit.edu	37	chr17	36065033	36065033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaggtgctgactgggggCaaacctcctcctgagactga	13	11	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:36065033C>A	ENST00000225893.4	-	6	1591	c.1230G>T	c.(1228-1230)ttG>ttT	p.L410F	HNF1B_ENST00000560016.1_Missense_Mutation_p.L410F|HNF1B_ENST00000561193.1_Missense_Mutation_p.L384F|HNF1B_ENST00000427275.2_Missense_Mutation_p.L384F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	410					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGACTGGGGGCAAACCTCCTC	0.488																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1228-1230)ttG>ttT		HNF1 homeobox B							142	131	135					17																	36065033		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36065033C>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1230G>T	17.37:g.36065033C>A	ENSP00000225893:p.Leu410Phe					HNF1B_ENST00000427275.2_Missense_Mutation_p.L384F|HNF1B_ENST00000561193.1_Missense_Mutation_p.L384F|HNF1B_ENST00000560016.1_Missense_Mutation_p.L410F	p.L410F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		6	1591	-		Breast(25;0.00765)|Ovarian(249;0.15)	410					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1230G>T	CCDS11324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748005|3.748005	0.69533|0.69533	.|.	.|.	ENSG00000108753|ENSG00000108753	ENST00000544593|ENST00000225893;ENST00000427275;ENST00000539087	.|D;D	.|0.99051	.|-5.37;-5.37	5.6|5.6	4.64|4.64	0.57946|0.57946	.|Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99077|0.99077	0.9683|0.9683	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.99605|0.99605	1.0979|1.0979	6|10	0.45353|0.59425	T|D	0.12|0.04	-21.2513|-21.2513	9.7322|9.7322	0.40368|0.40368	0.0:0.8439:0.0:0.1561|0.0:0.8439:0.0:0.1561	.|.	.|384;410	.|E0YMJ6;P35680	.|.;HNF1B_HUMAN	S|F	411|410;384;298	.|ENSP00000225893:L410F;ENSP00000412212:L384F	ENSP00000443448:A411S|ENSP00000225893:L410F	A|L	-|-	1|3	0|2	HNF1B|HNF1B	33139146|33139146	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	1.367000|1.367000	0.34204|0.34204	1.375000|1.375000	0.46248|0.46248	0.655000|0.655000	0.94253|0.94253	GCC|TTG		0.488	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		9	197	1	0	0.000274275	1	0.000280805	9	197					A	36065033	C	A	36065033	3	1	22	1	0	0	0	0	1	0	0	0	7282	709	25	3	459	3	HNF1B	17	36065033	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	14745441	36065033	45130177	77	2791											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			7	199						7	199	---	---	---	---	-	48940612	GTG	-	48940610	7	5	22	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-2L-AAQM-01A-11D-A397-08	12875577	48940610	32254600	78	2792											
TOM1L1	10040	broad.mit.edu	37	chr17	53007467	53007467	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgggagatgcaggagAggatcatggacctgcttgtg	17	7	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:53007467A>T	ENST00000575882.1	+	8	1107	c.754A>T	c.(754-756)Agg>Tgg	p.R252W	TOM1L1_ENST00000348161.4_Missense_Mutation_p.R175W|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R175W|TOM1L1_ENST00000570371.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000575333.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R245W|TOM1L1_ENST00000445275.2_Missense_Mutation_p.R252W|TOM1L1_ENST00000540336.1_Missense_Mutation_p.R140W	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	252	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GATGCAGGAGAGGATCATGGA	0.418																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(754-756)Agg>Tgg		target of myb1 (chicken)-like 1							219	191	201					17																	53007467		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53007467A>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.754A>T	17.37:g.53007467A>T	ENSP00000460823:p.Arg252Trp					TOM1L1_ENST00000445275.2_Missense_Mutation_p.R252W|TOM1L1_ENST00000570371.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R175W|TOM1L1_ENST00000575333.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000540336.1_Missense_Mutation_p.R140W|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R245W|TOM1L1_ENST00000348161.4_Missense_Mutation_p.R175W	p.R252W	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			8	1107	+			252			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.754A>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140303	0.77775	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.07	3.97	0.46021	GAT (2);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.83118	2.625	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71137	-0.4680	10	0.87932	D	0	-5.0823	10.2537	0.43383	0.8334:0.1666:0.0:0.0	.	140;245;175;252;252	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	W	252;140;175;175	ENSP00000408958:R252W;ENSP00000441242:R140W;ENSP00000343901:R175W;ENSP00000443099:R175W	ENSP00000343901:R175W	R	+	1	2	TOM1L1	50362466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.333000	0.43912	0.919000	0.36945	0.460000	0.39030	AGG		0.418	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		11	419	0	0	0	1	0	11	419					T	53007467	A	T	53007467	3	4	22	1	0	0	0	0	1	0	0	0	16404	295	11	5	784	5	TOM1L1	17	53007467	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	4066857	53007467	28187743	79	2793											
TEX14	56155	broad.mit.edu	37	chr17	56688700	56688700	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactgggaactgggaccGctgcaagcaagagatgaaat	13	9	0	2	rs199818464		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:56688700G>A	ENST00000240361.8	-	10	1109	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	TEX14_ENST00000389934.3_Splice_Site_p.R336W|TEX14_ENST00000349033.5_Splice_Site_p.R336W			Q8IWB6	TEX14_HUMAN	testis expressed 14	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTGGGACCGCTGCAAGCAA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11609	0.0		0.0	False		,,,				2504	0.0					ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e10-1		testis expressed 14		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	72	69	70		1024,1006,1006	1.9	1	17		70	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	342/1498,336/1452,336/1492	56688700	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688700G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1024-1C>T	17.37:g.56688700G>A						TEX14_ENST00000349033.5_Splice_Site_p.R336_splice|TEX14_ENST00000240361.8_Splice_Site_p.R342_splice	p.R336_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			10	1123	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		342			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.1005_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760449	0.69763	4.54E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.45668	0.89;0.89;0.89	5.42	1.87	0.25490	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.70771	0.3262	M	0.93678	3.445	0.43025	D	0.994587	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.77101	-0.2712	10	0.87932	D	0	-22.0085	13.2907	0.60269	0.0:0.0:0.5026:0.4974	.	342;336;336	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	W	342;336;336	ENSP00000240361:R342W;ENSP00000374584:R336W;ENSP00000268910:R336W	ENSP00000240361:R342W	R	-	1	2	TEX14	54043699	1.000000	0.71417	0.956000	0.39512	0.950000	0.60333	1.875000	0.39578	0.088000	0.17205	0.563000	0.77884	CGG		0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Missense_Mutation	5	351	0	0	0	1	0	5	351					A	56688700	G	A	56688700	5	1	22	1	0	0	0	0	0	0	1	0	15830	1101	38	1	3565	1	TEX14	17	56688700	Splice_Site	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	3681233	56688700	24506510	80	2794											
C1QTNF1	114897	broad.mit.edu	37	chr17	77042773	77042773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcaacatcactatcttgAaaggtcagatggctgcaaag	9	8	4	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr17:77042773A>G	ENST00000339142.2	+	4	847	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K16E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K108E|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K98E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K16E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	98					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CACTATCTTGAAAGGTCAGAT	0.632											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(292-294)Aaa>Gaa		C1q and tumor necrosis factor related protein 1							68	69	69					17																	77042773		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042773A>G	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.292A>G	17.37:g.77042773A>G	ENSP00000340864:p.Lys98Glu		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K98E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K16E|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K16E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K108E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K98E	p.K98E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	847	+			98					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.292A>G	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	a	23.8	4.458056	0.84317	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.92699	-3.09;-3.09;-3.09	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000003	D	0.95680	0.8595	M	0.85041	2.73	0.45930	D	0.998766	P;P;D	0.56035	0.792;0.792;0.974	P;P;D	0.63703	0.643;0.643;0.917	D	0.96162	0.9116	10	0.66056	D	0.02	.	13.7272	0.62765	1.0:0.0:0.0:0.0	.	108;108;98	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	E	98;16;108;98;108	ENSP00000340864:K98E;ENSP00000311265:K16E;ENSP00000343230:K108E	ENSP00000311265:K16E	K	+	1	0	C1QTNF1	74554368	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.392000	0.79840	1.873000	0.54277	0.454000	0.30748	AAA		0.632	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		27	419	0	0	0	1	0	27	419					G	77042773	A	G	77042773	3	3	22	1	0	0	0	0	1	0	0	0	1969	247	9	4	298	4	C1QTNF1	17	77042773	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	20354073	77042773	4152437	81	2795											
TXNDC2	84203	broad.mit.edu	37	chr18	9887463	9887463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccaaggagggtgacatCcccaagtccctagaggaagc	12	13	0	2	rs111251988		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr18:9887463C>T	ENST00000306084.6	+	2	1186	c.987C>T	c.(985-987)atC>atT	p.I329I	TXNDC2_ENST00000357775.5_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)atC>atT		thioredoxin domain containing 2 (spermatozoa)							138	131	133					18																	9887463		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887463C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.987C>T	18.37:g.9887463C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I262I	p.I329I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1186	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.987C>T	CCDS42414.1																																																																																				0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	400	0	0	0	1	0	5	400					T	9887463	C	T	9887463	2	4	22	1	0	0	0	0	0	0	0	1	16851	845	30	2		2	TXNDC2	18	9887463	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08		9887463	68189785	82	2796											
RPRD1A	55197	broad.mit.edu	37	chr18	33573139	33573139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcactgtagatgtctcccGcaaagggcaggtgcatgtgg	13	10	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr18:33573139G>A	ENST00000399022.4	-	7	1085	c.914C>T	c.(913-915)gCg>gTg	p.A305V	RPRD1A_ENST00000590898.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000357384.4_Missense_Mutation_p.A305V|RPRD1A_ENST00000337059.5_Missense_Mutation_p.A269V|RPRD1A_ENST00000588737.1_Missense_Mutation_p.A269V	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	305					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GATGTCTCCCGCAAAGGGCAG	0.532																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(913-915)gCg>gTg		regulation of nuclear pre-mRNA domain containing 1A							91	85	87					18																	33573139		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33573139G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.914C>T	18.37:g.33573139G>A	ENSP00000381984:p.Ala305Val					RPRD1A_ENST00000357384.4_Missense_Mutation_p.A305V|RPRD1A_ENST00000588737.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000590898.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000337059.5_Missense_Mutation_p.A269V	p.A305V	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			7	1085	-			305					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.914C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054244	0.75960	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.67	5.67	0.87782	.	0.217495	0.42821	D	0.000657	T	0.62998	0.2474	L	0.54323	1.7	0.80722	D	1	P;D	0.55385	0.855;0.971	B;P	0.52856	0.228;0.711	T	0.62120	-0.6921	9	0.42905	T	0.14	-9.8549	12.9286	0.58275	0.0:0.1628:0.8372:0.0	.	305;269	Q96P16;Q96P16-3	RPR1A_HUMAN;.	V	305;305;269	.	ENSP00000337476:A269V	A	-	2	0	RPRD1A	31827137	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	7.698000	0.84413	2.687000	0.91594	0.655000	0.94253	GCG		0.532	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		5	324	0	0	0	1	0	5	324					A	33573139	G	A	33573139	3	1	22	1	0	0	0	0	1	0	0	0	13665	1087	38	1	28	1	RPRD1A	18	33573139	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	23685676	33573139	44504109	83	2797											
FUT6	2528	broad.mit.edu	37	chr19	5831898	5831898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggttccctggggcagGggcttgtgggagcgtccgta	17	9	1	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:5831898G>A	ENST00000318336.4	-	3	1875	c.681C>T	c.(679-681)ccC>ccT	p.P227P	FUT6_ENST00000527106.1_Silent_p.P227P|FUT6_ENST00000286955.5_Silent_p.P227P|FUT6_ENST00000524754.1_Silent_p.P227P|FUT6_ENST00000592563.1_Silent_p.P227P	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	227					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCTGGGGCAGGGGCTTGTGGG	0.612																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(679-681)ccC>ccT		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							130	123	125					19																	5831898		2203	4300	6503	SO:0001819	synonymous_variant	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831898G>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.681C>T	19.37:g.5831898G>A						FUT6_ENST00000592563.1_Silent_p.P227P|FUT6_ENST00000527106.1_Silent_p.P227P|FUT6_ENST00000524754.1_Silent_p.P227P|FUT6_ENST00000286955.5_Silent_p.P227P	p.P227P	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1875	-			227					A6NEX0|D6W637|Q9UND8	Silent	SNP	ENST00000318336.4	37	c.681C>T	CCDS12152.1																																																																																				0.612	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		73	628	0	0	0	1	0	73	628					A	5831898	G	A	5831898	2	1	22	1	0	0	0	0	0	0	0	1	6135	1219	43	2		2	FUT6	19	5831898	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		5831898	53297085	84	2798											
COL5A3	50509	broad.mit.edu	37	chr19	10084482	10084482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggcagccctggagTgccctggagagacagcaagg	14	13	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:10084482T>C	ENST00000264828.3	-	49	3647	c.3562A>G	c.(3562-3564)Act>Gct	p.T1188A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1188	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCCCTGGAGTGCCCTGGAGA	0.597																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3562-3564)Act>Gct		collagen, type V, alpha 3							74	83	80					19																	10084482		2203	4299	6502	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10084482T>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3562A>G	19.37:g.10084482T>C	ENSP00000264828:p.Thr1188Ala						p.T1188A	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		49	3647	-			1188			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3562A>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375218	0.24857	.	.	ENSG00000080573	ENST00000264828	D	0.94000	-3.33	4.55	-5.39	0.02664	.	0.659674	0.13547	U	0.379767	T	0.73194	0.3556	N	0.02247	-0.625	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.68577	-0.5372	10	0.18276	T	0.48	.	0.6294	0.00791	0.3312:0.1132:0.1884:0.3673	.	1188	P25940	CO5A3_HUMAN	A	1188	ENSP00000264828:T1188A	ENSP00000264828:T1188A	T	-	1	0	COL5A3	9945482	0.000000	0.05858	0.496000	0.27539	0.531000	0.34715	-0.172000	0.09868	-0.398000	0.07679	-0.669000	0.03829	ACT		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		274	294	0	0	0	1	0	274	294					C	10084482	T	C	10084482	3	2	22	1	0	0	0	0	1	0	0	0	3707	1696	59	4	1751	4	COL5A3	19	10084482	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	4252584	10084482	49044501	85	2799											
DNMT1	1786	broad.mit.edu	37	chr19	10267152	10267152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcgatgaggccggtgtcGatgggacacaggtgaccgtg	16	9	1	2	rs201487376		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:10267152G>A	ENST00000340748.4	-	17	1501	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	DNMT1_ENST00000540357.1_Silent_p.I422I|DNMT1_ENST00000359526.4_Silent_p.I438I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	422	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGCCGGTGTCGATGGGACACA	0.483																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1264-1266)atC>atT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						114	97	103					19																	10267152		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10267152G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1266C>T	19.37:g.10267152G>A						DNMT1_ENST00000540357.1_Silent_p.I422I|DNMT1_ENST00000359526.4_Silent_p.I438I	p.I422I			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		17	1501	-			422			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1266C>T	CCDS12228.1																																																																																				0.483	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	351	0	0	0	1	0	5	351					A	10267152	G	A	10267152	2	1	22	1	0	0	0	0	0	0	0	1	4691	1048	37	1		1	DNMT1	19	10267152	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	182670	10267152	48861831	86	2800											
ZNF440	126070	broad.mit.edu	37	chr19	11943564	11943564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatgtgggaaagccttcaGagctgtgtcaatcctttgaa	11	8	2	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:11943564G>A	ENST00000304060.5	+	4	1737	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCCTTCAGAGCTGTGTCA	0.463																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1573-1575)Gag>Aag		zinc finger protein 440							63	68	66					19																	11943564		2187	4293	6480	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943564G>A	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1573G>A	19.37:g.11943564G>A	ENSP00000305373:p.Glu525Lys						p.E525K	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1737	+			525					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1573G>A	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	3.246	-0.154256	0.06585	.	.	ENSG00000171295	ENST00000304060	T	0.05319	3.46	0.158	0.158	0.14942	.	.	.	.	.	T	0.02267	0.0070	N	0.12182	0.205	0.09310	N	1	B	0.28324	0.207	B	0.18561	0.022	T	0.42816	-0.9429	9	0.06365	T	0.9	.	2.2427	0.04024	0.0:0.3235:0.355:0.3215	.	525	Q8IYI8	ZN440_HUMAN	K	525	ENSP00000305373:E525K	ENSP00000305373:E525K	E	+	1	0	ZNF440	11804564	0.000000	0.05858	0.011000	0.14972	0.020000	0.10135	-5.579000	0.00112	0.202000	0.20498	0.205000	0.17691	GAG		0.463	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		5	322	0	0	0	1	0	5	322					A	11943564	G	A	11943564	3	1	22	1	0	0	0	0	1	0	0	0	17966	943	33	2	1587	2	ZNF440	19	11943564	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	1676412	11943564	47185419	87	2801											
SIRT2	22933	broad.mit.edu	37	chr19	39380781	39380781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaaacagatgactctgCgacctggaggagaggaactt	11	11	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:39380781C>T	ENST00000249396.7	-	5	531	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SIRT2_ENST00000358931.5_Missense_Mutation_p.R77H|SIRT2_ENST00000392081.2_Missense_Mutation_p.R40H	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	77	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)			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)			GATGACTCTGCGACCTGGAGG	0.557																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(229-231)cGc>cAc		sirtuin 2							112	86	95					19																	39380781		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.chr19:39380781C>T	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.230G>A	19.37:g.39380781C>T	ENSP00000249396:p.Arg77His					SIRT2_ENST00000358931.5_Missense_Mutation_p.R77H|SIRT2_ENST00000392081.2_Missense_Mutation_p.R40H	p.R77H	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		5	531	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		77			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.230G>A	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117605	0.56505	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.21	2.92	0.33932	.	0.314266	0.32518	N	0.005995	T	0.19167	0.0460	M	0.65320	2	0.42590	D	0.993244	P;P;B;P	0.51791	0.742;0.742;0.211;0.948	B;B;B;B	0.41466	0.328;0.229;0.005;0.358	T	0.03662	-1.1015	10	0.72032	D	0.01	-21.7422	4.7118	0.12875	0.0:0.6433:0.0:0.3567	.	77;40;77;57	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	H	77;40;77;62;40;40;40;40;40	ENSP00000249396:R77H;ENSP00000375931:R40H;ENSP00000351809:R77H;ENSP00000404309:R40H;ENSP00000385146:R40H;ENSP00000401203:R40H;ENSP00000397022:R40H;ENSP00000408023:R40H	ENSP00000249396:R77H	R	-	2	0	SIRT2	44072621	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.265000	0.43311	1.201000	0.43203	-0.291000	0.09656	CGC		0.557	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			4	264	0	0	0	1	0	4	264					T	39380781	C	T	39380781	3	4	22	1	0	0	0	0	1	0	0	0	14388	768	27	1	987	1	SIRT2	19	39380781	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	27437217	39380781	19748202	88	2802											
ZNF224	7767	broad.mit.edu	37	chr19	44611966	44611966	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaagagttttggctgGgcctcgtgtcttttgaaaca	14	6	1	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:44611966G>A	ENST00000336976.6	+	6	1907	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	551					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTTTTGGCTGGGCCTCGTGTC	0.413																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(1651-1653)tgG>tgA		zinc finger protein 224							97	92	94					19																	44611966		2203	4300	6503	SO:0001587	stop_gained	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611966G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1653G>A	19.37:g.44611966G>A	ENSP00000337368:p.Trp551*					AC084219.4_ENST00000592946.1_RNA	p.W551*	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	1907	+		Prostate(69;0.0435)	551					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	37	c.1653G>A	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	36	5.647923	0.96714	.	.	ENSG00000186019	ENST00000336976	.	.	.	2.93	0.548	0.17208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.217	0.15348	0.0:0.4164:0.378:0.2056	.	.	.	.	X	551	.	ENSP00000337368:W551X	W	+	3	0	ZNF224	49303806	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.318000	0.08050	0.468000	0.27243	0.591000	0.81541	TGG		0.413	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		121	390	0	0	0	1	0	121	390					A	44611966	G	A	44611966	4	1	22	1	0	0	0	0	0	1	0	0	17831	1241	43	2	1667	2	ZNF224	19	44611966	Nonsense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	5231185	44611966	14517017	89	2803											
KLK10	5655	broad.mit.edu	37	chr19	51518155	51518155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggggtaaacaccccaCgagaggatgccttggagggt	14	11	0	1	rs138296032	byFrequency	TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:51518155C>T	ENST00000309958.3	-	6	950	c.732G>A	c.(730-732)tcG>tcA	p.S244S	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Silent_p.S244S|CTB-147C22.9_ENST00000594512.1_RNA|KLK10_ENST00000391805.1_Silent_p.S244S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	244	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AAACACCCCACGAGAGGATGC	0.537																																						ENST00000309958.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(730-732)tcG>tcA		kallikrein-related peptidase 10							83	77	79					19																	51518155		2203	4300	6503	SO:0001819	synonymous_variant	5655				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51518155C>T	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.732G>A	19.37:g.51518155C>T						KLK10_ENST00000391805.1_Silent_p.S244S|KLK10_ENST00000358789.3_Silent_p.S244S	p.S244S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	6	950	-		all_neural(266;0.026)	244			Peptidase S1.		A6NC12|Q53YL3|Q99920|Q9GZW9	Silent	SNP	ENST00000309958.3	37	c.732G>A	CCDS12817.1																																																																																				0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		21	305	0	0	0	1	0	21	305					T	51518155	C	T	51518155	2	4	22	1	0	0	0	0	0	0	0	1	8428	523	19	1		1	KLK10	19	51518155	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	6906189	51518155	7610828	90	2804											
ZNF628	89887	broad.mit.edu	37	chr19	55994105	55994105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcacctgtggccagtgCggcctcaccttcaagtggtc	11	15	3	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr19:55994105C>T	ENST00000598519.1	+	3	2098	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	ZNF628_ENST00000391718.2_Silent_p.C511C|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	515					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGGCCAGTGCGGCCTCACCT	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1531-1533)tgC>tgT		zinc finger protein 628							37	37	37					19																	55994105		2202	4298	6500	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994105C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1545C>T	19.37:g.55994105C>T						ZNF628_ENST00000598519.1_Silent_p.C515C	p.C511C			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2098	+	Breast(117;0.155)		511					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1533C>T	CCDS33116.3																																																																																				0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		5	337	0	0	0	1	0	5	337					T	55994105	C	T	55994105	2	4	22	1	0	0	0	0	0	0	0	1	18105	776	27	1		1	ZNF628	19	55994105	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	4475950	55994105	3134878	91	2805											
RIN2	54453	broad.mit.edu	37	chr20	19955543	19955543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggcctgaaacggccgAgcacaaggactcccaacgcg	14	13	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:19955543A>G	ENST00000255006.6	+	8	1170	c.1021A>G	c.(1021-1023)Agc>Ggc	p.S341G	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	292					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAACGGCCGAGCACAAGGAC	0.612																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1021-1023)Agc>Ggc		Ras and Rab interactor 2							54	57	56					20																	19955543		1900	4112	6012	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955543A>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1021A>G	20.37:g.19955543A>G	ENSP00000255006:p.Ser341Gly					RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.S341G	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1170	+			292					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1021A>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042598	0.19748	.	.	ENSG00000132669	ENST00000255006	T	0.23950	1.88	5.59	0.836	0.18891	.	0.525914	0.22843	N	0.054955	T	0.18718	0.0449	L	0.54323	1.7	0.80722	D	1	B	0.21606	0.058	B	0.20767	0.031	T	0.07347	-1.0777	9	.	.	.	-6.5879	3.9026	0.09167	0.4993:0.0:0.2229:0.2778	.	292	Q8WYP3	RIN2_HUMAN	G	341	ENSP00000255006:S341G	.	S	+	1	0	RIN2	19903543	0.976000	0.34144	0.985000	0.45067	0.982000	0.71751	0.581000	0.23819	-0.125000	0.11703	0.533000	0.62120	AGC		0.612	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			36	187	0	0	0	1	0	36	187					G	19955543	A	G	19955543	3	3	22	1	0	0	0	0	1	0	0	0	13422	304	11	4	900	4	RIN2	20	19955543	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08		19955543	43069977	92	2806											
CRNKL1	51340	broad.mit.edu	37	chr20	20018172	20018172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttagtcaaacttcctTcttttcctgaagacaactca	4	11	3	2	rs111503447		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:20018172T>C	ENST00000377340.2	-	14	2205	c.2174A>G	c.(2173-2175)gAa>gGa	p.E725G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E564G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E713G|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	725					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAAACTTCCTTCTTTTCCTGA	0.343																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(2173-2175)gAa>gGa		crooked neck pre-mRNA splicing factor 1							113	111	112					20																	20018172		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20018172T>C	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2174A>G	20.37:g.20018172T>C	ENSP00000366557:p.Glu725Gly					CRNKL1_ENST00000377327.4_Missense_Mutation_p.E713G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E564G|CRNKL1_ENST00000521379.1_5'UTR	p.E725G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			14	2205	-			725					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.2174A>G	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924075	0.52653	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.51574	1.36;1.36;0.7	5.02	5.02	0.67125	.	0.265685	0.41938	D	0.000781	T	0.42268	0.1195	L	0.42686	1.345	0.58432	D	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.31641	-0.9936	10	0.51188	T	0.08	-17.8372	14.8926	0.70620	0.0:0.0:0.0:1.0	.	725	Q9BZJ0	CRNL1_HUMAN	G	713;725;564	ENSP00000366544:E713G;ENSP00000366557:E725G;ENSP00000440733:E564G	ENSP00000366544:E713G	E	-	2	0	CRNKL1	19966172	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.094000	0.71431	2.098000	0.63641	0.397000	0.26171	GAA		0.343	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			212	224	0	0	0	1	0	212	224					C	20018172	T	C	20018172	3	2	22	1	0	0	0	0	1	0	0	0	3900	1783	62	4	380	4	CRNKL1	20	20018172	Missense_Mutation	SNP	T	TCGA-2L-AAQM-01A-11D-A397-08	62629	20018172	43007348	93	2807											
MYH7B	26133	broad.mit.edu	37	chr20	33588098	33588098	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccctcctcccataggcGcaaccaccagcgagctgtgg	10	18	0	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:33588098G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1637H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCCATAGGCGCAACCACCAG	0.582																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4909-4911)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							104	116	112					20																	33588098		2047	4110	6157	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588098G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588098G>A							p.R1637H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		37	5002	+			1595					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4910G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418027	0.83449	.	.	ENSG00000078814	ENST00000262873	T	0.81415	-1.49	3.97	3.97	0.46021	Myosin tail (1);	0.000000	0.35235	N	0.003347	D	0.92364	0.7577	H	0.96547	3.84	0.58432	D	0.999991	D	0.76494	0.999	D	0.65773	0.938	D	0.95091	0.8222	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	1595	A7E2Y1	MYH7B_HUMAN	H	1637	ENSP00000262873:R1637H	ENSP00000262873:R1637H	R	+	2	0	MYH7B	33051759	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.758000	0.85224	2.222000	0.72286	0.558000	0.71614	CGC		0.582	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		7	1218	0	0	0	1	0	7	1218					A	33588098	G	A	33588098	1	1	22	0	1	0	0	0	0	0	0	0	10081	1087	38	1		1	MYH7B	20	33588098	IGR	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	13569926	33588098	29437422	94	2808											
LPIN3	64900	broad.mit.edu	37	chr20	39981287	39981287	+	Frame_Shift_Del	DEL	A	A	-													tctcttaccaggacctcaccAaaaaccccggacttttggat							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:39981287delA	ENST00000373257.3	+	10	1496	c.1405delA	c.(1405-1407)aaafs	p.K469fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	469					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACCTCACCAAAAACCCCGG	0.562																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1405-1407)aafs		lipin 3							166	182	177					20																	39981287		2203	4300	6503	SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981287delA	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1405delA	20.37:g.39981287delA	ENSP00000362354:p.Lys469fs						p.K469fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1496	+		Myeloproliferative disorder(115;0.000739)	469					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Del	DEL	ENST00000373257.3	37	c.1405delA	CCDS33469.1																																																																																				0.562	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		7	1435						7	1435	---	---	---	---	-	39981287	A	-	39981287	7	5	22	1	0	1	0	1	0	0	0	0	8958	131	5	0	1439	0	LPIN3	20	39981287	Frame_Shift_Del	DEL	A	TCGA-2L-AAQM-01A-11D-A397-08	6393189	39981287	23044233	95	2809											
NCOA5	57727	broad.mit.edu	37	chr20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctctgtgatcccGcaaatctctactatgtctgt	7	13	3	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:44699006G>A	ENST00000290231.6	-	3	372	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R70W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.R70W(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(208-210)Cgg>Tgg		nuclear receptor coactivator 5							136	132	133					20																	44699006		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699006G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.208C>T	20.37:g.44699006G>A	ENSP00000290231:p.Arg70Trp						p.R70W	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	372	-		Myeloproliferative disorder(115;0.0122)	70			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.208C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221434	0.58560	.	.	ENSG00000124160	ENST00000290231	T	0.55413	0.52	4.93	3.92	0.45320	.	0.191464	0.47852	D	0.000203	T	0.70395	0.3219	M	0.78049	2.395	0.44098	D	0.996864	D	0.89917	1.0	D	0.80764	0.994	T	0.73209	-0.4055	10	0.59425	D	0.04	-0.475	12.5287	0.56102	0.0:0.0:0.7888:0.2112	.	70	Q9HCD5	NCOA5_HUMAN	W	70	ENSP00000290231:R70W	ENSP00000290231:R70W	R	-	1	2	NCOA5	44132413	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	2.080000	0.41586	2.568000	0.86640	0.650000	0.86243	CGG		0.562	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		6	766	0	0	0	1	0	6	766					A	44699006	G	A	44699006	3	1	22	1	0	0	0	0	1	0	0	0	10274	1086	38	1	1555	1	NCOA5	20	44699006	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	4717719	44699006	18326514	96	2810											
ZFP64	55734	broad.mit.edu	37	chr20	50769153	50769153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgggttctgggccacCaaggcaggcgggacgatgtt	15	11	2	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:50769153C>G	ENST00000216923.4	-	6	1927	c.1578G>C	c.(1576-1578)ttG>ttC	p.L526F	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.L524F|ZFP64_ENST00000346617.4_Missense_Mutation_p.L472F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGGCCACCAAGGCAGGCG	0.652																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1576-1578)ttG>ttC		ZFP64 zinc finger protein							23	27	25					20																	50769153		2202	4300	6502	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769153C>G	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1578G>C	20.37:g.50769153C>G	ENSP00000216923:p.Leu526Phe					ZFP64_ENST00000371515.4_Missense_Mutation_p.L524F|ZFP64_ENST00000346617.4_Missense_Mutation_p.L472F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	p.L526F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1927	-			526					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1578G>C	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993909	0.35131	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.09073	3.02;3.07;3.02	5.57	4.62	0.57501	.	0.000000	0.46442	D	0.000288	T	0.06462	0.0166	L	0.29908	0.895	0.38194	D	0.939985	P;P;P	0.46512	0.879;0.808;0.808	B;B;B	0.39258	0.295;0.154;0.154	T	0.19582	-1.0301	10	0.51188	T	0.08	-17.0676	9.5197	0.39126	0.0:0.7538:0.0:0.2462	.	472;524;526	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	F	526;472;524;368	ENSP00000216923:L526F;ENSP00000344615:L472F;ENSP00000360570:L524F	ENSP00000216923:L526F	L	-	3	2	ZFP64	50202560	0.970000	0.33590	0.996000	0.52242	0.286000	0.27126	0.170000	0.16663	2.619000	0.88677	0.650000	0.86243	TTG		0.652	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		7	171	0	0	0	1	0	7	171					G	50769153	C	G	50769153	3	3	22	1	0	0	0	0	1	0	0	0	17705	593	21	5	1662	5	ZFP64	20	50769153	Missense_Mutation	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	6070147	50769153	12256367	97	2811											
CABLES2	81928	broad.mit.edu	37	chr20	60970037	60970037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggaccgagaaggccgcGcacagggaccgcttggcaca	16	13	0	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr20:60970037G>A	ENST00000279101.5	-	4	569	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	187					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGAAGGCCGCGCACAGGGACC	0.657																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(559-561)tgC>tgT		Cdk5 and Abl enzyme substrate 2							39	38	38					20																	60970037		2202	4298	6500	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60970037G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.561C>T	20.37:g.60970037G>A							p.C187C	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	569	-	Breast(26;2.05e-08)		187					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.561C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	g	2.443	-0.328125	0.05314	.	.	ENSG00000149679	ENST00000370560	.	.	.	5.78	1.07	0.20283	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47911	-0.9080	4	.	.	.	-16.5438	8.8561	0.35229	0.7219:0.0:0.2781:0.0	.	.	.	.	C	12	.	.	R	-	1	0	CABLES2	60403432	0.993000	0.37304	0.962000	0.40283	0.686000	0.39977	0.640000	0.24705	-0.091000	0.12440	-1.046000	0.02355	CGC		0.657	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		4	222	0	0	0	1	0	4	222					A	60970037	G	A	60970037	2	1	22	1	0	0	0	0	0	0	0	1	2537	1079	38	1		1	CABLES2	20	60970037	Silent	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08	10200884	60970037	2055483	98	2812											
LSS	4047	broad.mit.edu	37	chr21	47642587	47642587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactgaccgcaggtaccGcacaatctcttctctgtatc	7	15	2	1			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr21:47642587G>A	ENST00000397728.3	-	4	463	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	LSS_ENST00000522411.1_Missense_Mutation_p.R129W|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000457828.2_Missense_Mutation_p.R49W|LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	129					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CGCAGGTACCGCACAATCTCT	0.592																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(385-387)Cgg>Tgg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							133	102	112					21																	47642587		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47642587G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.385C>T	21.37:g.47642587G>A	ENSP00000380837:p.Arg129Trp					LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000522411.1_Missense_Mutation_p.R129W|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R49W	p.R129W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			4	463	-	Breast(49;0.214)		129					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.385C>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887511	0.91814	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.07	5.07	0.68467	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85734	0.1333	10	0.87932	D	0	.	18.4016	0.90518	0.0:0.0:1.0:0.0	.	129;129	E9PEI9;P48449	.;ERG7_HUMAN	W	129;49;129;129;130	ENSP00000348762:R129W;ENSP00000409191:R49W;ENSP00000380837:R129W;ENSP00000429133:R129W;ENSP00000391368:R130W	ENSP00000348762:R129W	R	-	1	2	LSS	46467015	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	4.580000	0.60942	2.512000	0.84698	0.609000	0.83330	CGG		0.592	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	139	0	0	0	1	0	4	139					A	47642587	G	A	47642587	3	1	22	1	0	0	0	0	1	0	0	0	9103	1086	38	1	1889	1	LSS	21	47642587	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		47642587	487308	99	2813											
CABIN1	23523	broad.mit.edu	37	chr22	24483551	24483551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggccctggagattgacaGctccaacttgtccctatgga	11	12	0	2			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr22:24483551G>A	ENST00000398319.2	+	23	3795	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1137N|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1087N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1137					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGATTGACAGCTCCAACTTG	0.552																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3409-3411)aGc>aAc		calcineurin binding protein 1							112	94	100					22																	24483551		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483551G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3410G>A	22.37:g.24483551G>A	ENSP00000381364:p.Ser1137Asn					CABIN1_ENST00000263119.5_Missense_Mutation_p.S1137N|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1087N	p.S1137N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			23	3795	+			1137					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3410G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613379	0.28712	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75938	-0.98;-0.98;-0.98	5.1	4.03	0.46877	Tetratricopeptide-like helical (1);	0.094727	0.64402	D	0.000001	T	0.72350	0.3449	L	0.31664	0.95	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.58721	0.844;0.702	T	0.65598	-0.6129	10	0.08599	T	0.76	.	15.4446	0.75220	0.0:0.1385:0.8615:0.0	.	1087;1137	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	N	1137;1087;1137	ENSP00000263119:S1137N;ENSP00000384694:S1087N;ENSP00000381364:S1137N	ENSP00000263119:S1137N	S	+	2	0	CABIN1	22813551	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.730000	0.55006	2.568000	0.86640	0.650000	0.86243	AGC		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		4	223	0	0	0	1	0	4	223					A	24483551	G	A	24483551	3	1	22	1	0	0	0	0	1	0	0	0	2535	971	34	2	3496	2	CABIN1	22	24483551	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		24483551	26821015	100	2814											
APOL4	80832	broad.mit.edu	37	chr22	36587621	36587621	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacgatgctggaggcgatCccagccgtggcagatgctat	13	12	0	1	rs370797006		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chr22:36587621C>T	ENST00000352371.1	-	6	779	c.555G>A	c.(553-555)ggG>ggA	p.G185G	APOL4_ENST00000332987.1_Silent_p.G182G|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	186					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TGGAGGCGATCCCAGCCGTGG	0.552																																						ENST00000332987.1																			0				lung(1)	1						c.(544-546)ggG>ggA		apolipoprotein L, 4		C	,	0,4394		0,0,2197	62	60	61		547,556	-1.4	0	22		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	APOL4	NM_030643.3,NM_145660.1	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	183/349,186/352	36587621	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587621C>T	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.555G>A	22.37:g.36587621C>T						APOL4_ENST00000352371.1_Silent_p.G185G|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR	p.G182G			Q9BPW4	APOL4_HUMAN			7	968	-			186					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.546G>A																																																																																					0.552	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		38	60	0	0	0	1	0	38	60					T	36587621	C	T	36587621	2	4	22	1	0	0	0	0	0	0	0	1	808	855	30	2		2	APOL4	22	36587621	Silent	SNP	C	TCGA-2L-AAQM-01A-11D-A397-08	12104070	36587621	14716945	101	2815											
FAM47C	442444	broad.mit.edu	37	chrX	37029070	37029070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgggctggagacctaggaGttaatgaagaatccatcagc	13	7	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:37029070G>T	ENST00000358047.3	+	1	2639	c.2587G>T	c.(2587-2589)Gtt>Ttt	p.V863F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	863										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACCTAGGAGTTAATGAAGA	0.458																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2587-2589)Gtt>Ttt		family with sequence similarity 47, member C							121	114	116					X																	37029070		2202	4297	6499	SO:0001583	missense	442444							g.chrX:37029070G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2587G>T	X.37:g.37029070G>T	ENSP00000367913:p.Val863Phe						p.V863F	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2639	+			863					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2587G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279633	0.23307	.	.	ENSG00000198173	ENST00000358047	T	0.62232	0.04	0.829	-0.288	0.12855	.	.	.	.	.	T	0.70474	0.3228	M	0.65975	2.015	0.09310	N	1	D	0.64830	0.994	D	0.64410	0.925	T	0.59026	-0.7531	8	0.72032	D	0.01	.	.	.	.	.	863	Q5HY64	FA47C_HUMAN	F	863	ENSP00000367913:V863F	ENSP00000367913:V863F	V	+	1	0	FAM47C	36938991	0.004000	0.15560	0.010000	0.14722	0.019000	0.09904	-0.226000	0.09139	-0.180000	0.10637	0.277000	0.19347	GTT		0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	357	1	0	0.0293803	1	0.0296099	6	357					T	37029070	G	T	37029070	3	4	22	1	0	0	0	0	1	0	0	0	5596	1029	36	3	2589	3	FAM47C	23	37029070	Missense_Mutation	SNP	G	TCGA-2L-AAQM-01A-11D-A397-08		37029070	118241490	102	2816											
DACH2	117154	broad.mit.edu	37	chrX	85969720	85969720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctggtacctctgttatAaaggtaagaatcgtgattta	10	5	1	3			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:85969720A>G	ENST00000373125.4	+	6	1101	c.1101A>G	c.(1099-1101)atA>atG	p.I367M	DACH2_ENST00000508860.1_Missense_Mutation_p.I200M|DACH2_ENST00000373131.1_Missense_Mutation_p.I354M|DACH2_ENST00000510272.1_Missense_Mutation_p.I148M	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	367					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTCTGTTATAAAGGTAAGAA	0.398																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1060-1062)atA>atG		dachshund homolog 2 (Drosophila)							69	60	63					X																	85969720		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969720A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1101A>G	X.37:g.85969720A>G	ENSP00000362217:p.Ile367Met					DACH2_ENST00000373125.4_Missense_Mutation_p.I367M|DACH2_ENST00000510272.1_Missense_Mutation_p.I148M|DACH2_ENST00000508860.1_Missense_Mutation_p.I200M	p.I354M	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1225	+			367					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1062A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610729	0.46527	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.84873	-1.9;-1.91	5.02	0.976	0.19727	.	0.074488	0.53938	D	0.000056	D	0.87943	0.6305	M	0.62723	1.935	0.42515	D	0.992987	D;D;D;D	0.69078	0.964;0.997;0.997;0.989	P;P;D;D	0.72075	0.762;0.856;0.976;0.921	D	0.84939	0.0864	10	0.48119	T	0.1	.	6.6256	0.22828	0.5793:0.1926:0.0:0.2281	.	233;367;354;367	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	M	367;354;367;200;148;200;22	ENSP00000362223:I354M;ENSP00000362217:I367M	ENSP00000345134:I367M	I	+	3	3	DACH2	85856376	0.867000	0.29959	1.000000	0.80357	0.782000	0.44232	-0.026000	0.12392	0.546000	0.28920	0.417000	0.27973	ATA		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		34	208	0	0	0	1	0	34	208					G	85969720	A	G	85969720	3	3	22	1	0	0	0	0	1	0	0	0	4232	352	13	4	1123	4	DACH2	23	85969720	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	48940650	85969720	69300840	103	2817											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		8	389						8	389	---	---	---	---	-	110406208	GAA	-	110406206	7	5	22	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-2L-AAQM-01A-11D-A397-08	24436486	110406206	44864354	104	2818											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	224						7	224	---	---	---	---	-	119694119	GAG	-	119694117	7	5	22	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-2L-AAQM-01A-11D-A397-08	9287911	119694117	35576443	105	2819											
IGSF1	3547	broad.mit.edu	37	chrX	130411066	130411066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggacctgtcactggAtgctatttcacttccatctt	7	13	3	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:130411066A>G	ENST00000361420.3	-	14	2534	c.2455T>C	c.(2455-2457)Tcc>Ccc	p.S819P	IGSF1_ENST00000370910.1_Missense_Mutation_p.S810P|IGSF1_ENST00000370904.1_Missense_Mutation_p.S810P|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.S824P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	819	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGTCACTGGATGCTATTTCA	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2428-2430)Tcc>Ccc		immunoglobulin superfamily, member 1							174	182	180					X																	130411066		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411066A>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2455T>C	X.37:g.130411066A>G	ENSP00000355010:p.Ser819Pro					IGSF1_ENST00000370903.3_Missense_Mutation_p.S824P|IGSF1_ENST00000370910.1_Missense_Mutation_p.S810P|IGSF1_ENST00000361420.3_Missense_Mutation_p.S819P|IGSF1_ENST00000467244.1_5'UTR	p.S810P			Q8N6C5	IGSF1_HUMAN			20	3338	-			819			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2428T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281633	0.23392	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.39	2.78	0.32641	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177617	0.27705	N	0.018195	T	0.11537	0.0281	N	0.02129	-0.67	0.09310	N	1	B;B;D	0.64830	0.257;0.182;0.994	B;B;D	0.77004	0.428;0.238;0.989	T	0.17258	-1.0375	10	0.35671	T	0.21	.	8.462	0.32934	0.6162:0.3838:0.0:0.0	.	810;263;819	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	P	810;819;810;824	ENSP00000359947:S810P;ENSP00000355010:S819P;ENSP00000359941:S810P;ENSP00000359940:S824P	ENSP00000355010:S819P	S	-	1	0	IGSF1	130238747	0.951000	0.32395	0.977000	0.42913	0.185000	0.23345	2.074000	0.41529	0.765000	0.33221	0.486000	0.48141	TCC		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			6	817	0	0	0	1	0	6	817					G	130411066	A	G	130411066	3	3	22	1	0	0	0	0	1	0	0	0	7626	333	12	4	1583	4	IGSF1	23	130411066	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	10716949	130411066	24859494	106	2820											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	312						7	312	---	---	---	---	-	135585050	AAG	-	135585048	7	5	22	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-2L-AAQM-01A-11D-A397-08	5173982	135585048	19685512	107	2821											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-2L-AAQM-01A-11D-A397-08	TCGA-2L-AAQM-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9c95f04-6d9d-45bd-b94a-1c497a4107b3	8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	243	0	0	0	1	0	4	243					T	149639635	A	T	149639635	3	4	22	1	0	0	0	0	1	0	0	0	9249	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-2L-AAQM-01A-11D-A397-08	14054587	149639635	5630925	108	2822											
GJA5	2702	broad.mit.edu	37	chr1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taagagccagagccccggacCtctttggccctctcggcctc	10	17	2	2	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	116					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCCCGGACCTCTTTGGCCC	0.622																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(346-348)gaG>gaC		gap junction protein, alpha 5, 40kDa							70	69	69					1																	147230999		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230999C>G		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.348G>C	1.37:g.147230999C>G	ENSP00000271348:p.Glu116Asp					GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	p.E116D	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	509	-	all_hematologic(923;0.0276)		116					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.348G>C	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.432319	0.01108	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.46;-4.46;-4.52	5.47	2.17	0.27698	.	0.857393	0.10119	N	0.713656	D	0.86339	0.5909	N	0.16478	0.41	0.09310	N	0.999997	B	0.15141	0.012	B	0.17979	0.02	T	0.79694	-0.1696	10	0.14656	T	0.56	.	6.9223	0.24395	0.2411:0.5858:0.106:0.0671	.	116	P36382	CXA5_HUMAN	D	116	ENSP00000271348:E116D;ENSP00000358240:E116D;ENSP00000407645:E116D	ENSP00000271348:E116D	E	-	3	2	GJA5	145697623	0.363000	0.24989	0.121000	0.21740	0.021000	0.10359	0.607000	0.24209	0.660000	0.30964	-0.309000	0.09137	GAG		0.622	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		114	297	0	0	0	1	0	114	297					G	147230999	C	G	147230999	3	3	23	1	0	0	0	0	1	0	0	0	6433	680	24	5	732	5	GJA5	1	147230999	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		147230999	102019622	1	2823											
SNX27	81609	broad.mit.edu	37	chr1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggtggtggacctgaTtcgagcaggcgagaaggaat	16	7	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000458013.2	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000368843.3_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T			Q96L92	SNX27_HUMAN	sorting nexin family member 27	121	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGACCTGATTCGAGCAGGC	0.483																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(361-363)aTt>aCt		sorting nexin family member 27							138	119	125					1																	151611414		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611414T>C	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.362T>C	1.37:g.151611414T>C	ENSP00000400333:p.Ile121Thr					SNX27_ENST00000458013.2_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T	p.I121T	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	482	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		121			PDZ.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.362T>C		.	.	.	.	.	.	.	.	.	.	T	19.79	3.892752	0.72524	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.56103	0.48;0.48;0.48	4.13	4.13	0.48395	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63773	-0.6561	10	0.72032	D	0.01	.	12.3924	0.55366	0.0:0.0:0.0:1.0	.	121;121	Q96L92;Q96L92-3	SNX27_HUMAN;.	T	121;121;28	ENSP00000400333:I121T;ENSP00000357836:I121T;ENSP00000357831:I28T	ENSP00000357831:I28T	I	+	2	0	SNX27	149878038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	1.862000	0.54008	0.482000	0.46254	ATT		0.483	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		34	279	0	0	0	1	0	34	279					C	151611414	T	C	151611414	3	2	23	1	0	0	0	0	1	0	0	0	14947	1493	52	4	368	4	SNX27	1	151611414	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	4380415	151611414	97639207	2	2824											
RIT1	6016	broad.mit.edu	37	chr1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-													ttagcctcttccatacactgTttttgggcttagattttttc					rs372170139		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(601-603)acfs		Ras-like without CAAX 1							302	310	308					1																	155870237		2203	4300	6503	SO:0001589	frameshift_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870237delT	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.602delA	1.37:g.155870237delT	ENSP00000357306:p.Asn201fs					RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	p.N201fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	806	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		201					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Frame_Shift_Del	DEL	ENST00000368323.3	37	c.602delA	CCDS1123.1																																																																																				0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		8	2041						8	2041	---	---	---	---	-	155870237	T	-	155870237	7	5	23	1	0	1	0	1	0	0	0	0	13436	1725	60	0	61	0	RIT1	1	155870237	Frame_Shift_Del	DEL	T	TCGA-3A-A9I5-01A-11D-A38G-08	4258823	155870237	93380384	3	2825											
FAM129A	116496	broad.mit.edu	37	chr1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagcatgtgcccgggAgtcctgctgtgtcctctgtt	13	11	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTGCCCGGGAGTCCTGCTGT	0.582																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2026-2028)cTc>cAc		family with sequence similarity 129, member A							65	56	59					1																	184764871		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764871A>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2027T>A	1.37:g.184764871A>T	ENSP00000356481:p.Leu676His					FAM129A_ENST00000487074.1_5'UTR	p.L676H	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2220	-			676					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2027T>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795937	0.31777	.	.	ENSG00000135842	ENST00000367511	T	0.10005	2.92	5.17	2.64	0.31445	.	0.972905	0.08410	N	0.950059	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.32214	-0.9915	10	0.41790	T	0.15	0.0338	7.1356	0.25527	0.209:0.1395:0.6516:0.0	.	676	Q9BZQ8	NIBAN_HUMAN	H	676	ENSP00000356481:L676H	ENSP00000356481:L676H	L	-	2	0	FAM129A	183031494	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	0.365000	0.20348	0.960000	0.38005	0.402000	0.26972	CTC		0.582	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			31	233	0	0	0	1	0	31	233					T	184764871	A	T	184764871	3	4	23	1	0	0	0	0	1	0	0	0	5457	304	11	5	763	5	FAM129A	1	184764871	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	28894634	184764871	64485750	4	2826											
HMCN1	83872	broad.mit.edu	37	chr1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatttcctagtaaccaaacAtgccccagcagtaattacct	5	12	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3911	Ig-like C2-type 38.				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)			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						GTAACCAAACATGCCCCAGCA	0.438																																						ENST00000271588.4																			0				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						c.(11731-11733)cAt>cTt		hemicentin 1							98	94	95					1																	186086639		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086639A>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.11732A>T	1.37:g.186086639A>T	ENSP00000271588:p.His3911Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			77	11961	+			3911			Ig-like C2-type 38.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11732A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.476078	0.01035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.65	0.272	0.15645	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499501	0.22254	N	0.062503	T	0.33469	0.0864	N	0.02736	-0.51	0.19945	N	0.999942	B	0.32753	0.383	B	0.34038	0.174	T	0.23013	-1.0200	10	0.23302	T	0.38	.	4.2131	0.10521	0.3639:0.0:0.305:0.3311	.	3911	Q96RW7	HMCN1_HUMAN	L	3911	ENSP00000271588:H3911L;ENSP00000356462:H3911L	ENSP00000271588:H3911L	H	+	2	0	HMCN1	184353262	0.139000	0.22563	0.011000	0.14972	0.269000	0.26545	1.675000	0.37555	0.088000	0.17205	0.533000	0.62120	CAT		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	606	0	0	0	1	0	5	606					T	186086639	A	T	186086639	3	4	23	1	0	0	0	0	1	0	0	0	7250	217	8	5	12038	5	HMCN1	1	186086639	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	1321768	186086639	63163982	5	2827											
FAIM3	9214	broad.mit.edu	37	chr1	207087157	207087157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccggtctgtgttcatgCccgctccgcaggcatagact	10	15	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:207087157C>T	ENST00000367091.3	-	2	463	c.320G>A	c.(319-321)gGc>gAc	p.G107D	FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	107					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTGTTCATGCCCGCTCCGCA	0.527																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(319-321)gGc>gAc		Fas apoptotic inhibitory molecule 3							108	108	108					1																	207087157		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087157C>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.320G>A	1.37:g.207087157C>T	ENSP00000356058:p.Gly107Asp					FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	p.G107D	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	463	-	Breast(84;0.201)		107					A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.320G>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949618	0.53186	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000110	T	0.14787	0.0357	L	0.47190	1.495	0.28079	N	0.932263	D	0.62365	0.991	D	0.67900	0.954	T	0.00819	-1.1553	10	0.56958	D	0.05	-26.0309	14.4357	0.67279	0.0:1.0:0.0:0.0	.	107	O60667	FAIM3_HUMAN	D	107;107;107;107;138	ENSP00000356058:G107D;ENSP00000403356:G107D;ENSP00000432936:G107D;ENSP00000437331:G107D;ENSP00000436316:G138D	ENSP00000356058:G107D	G	-	2	0	FAIM3	205153780	0.520000	0.26250	0.365000	0.25901	0.015000	0.08874	3.610000	0.54125	2.467000	0.83353	0.655000	0.94253	GGC		0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		6	608	0	0	0	1	0	6	608					T	207087157	C	T	207087157	3	4	23	1	0	0	0	0	1	0	0	0	5398	739	26	2	880	2	FAIM3	1	207087157	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	21000518	207087157	42163464	6	2828											
PTPN14	5784	broad.mit.edu	37	chr1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctgaagagatagttcTtaagcatgtgggccgtgctg	15	7	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	560					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGATAGTTCTTAAGCATGTG	0.652																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1678-1680)aAg>aCg		protein tyrosine phosphatase, non-receptor type 14							63	64	63					1																	214557519		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557519T>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1679A>C	1.37:g.214557519T>G	ENSP00000355923:p.Lys560Thr					PTPN14_ENST00000543945.1_3'UTR	p.K560T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1873	-			560					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1679A>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086987	0.55861	.	.	ENSG00000152104	ENST00000366956	T	0.71341	-0.56	5.61	3.29	0.37713	.	0.095764	0.64402	D	0.000001	T	0.65523	0.2699	M	0.61703	1.905	0.80722	D	1	B	0.31383	0.321	B	0.31614	0.133	T	0.62383	-0.6866	10	0.52906	T	0.07	.	9.8328	0.40952	0.0:0.1389:0.0:0.8611	.	560	Q15678	PTN14_HUMAN	T	560	ENSP00000355923:K560T	ENSP00000355923:K560T	K	-	2	0	PTPN14	212624142	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	2.671000	0.46842	0.502000	0.28037	0.528000	0.53228	AAG		0.652	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		6	396	0	0	0	1	0	6	396					G	214557519	T	G	214557519	3	3	23	1	0	0	0	0	1	0	0	0	12831	1609	56	4	1912	4	PTPN14	1	214557519	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	7470362	214557519	34693102	7	2829											
SIPA1L2	57568	broad.mit.edu	37	chr1	232600891	232600891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttccttggctttaccttctCctttttcttcgcacccagcg	5	16	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:232600891C>G	ENST00000366630.1	-	8	2873	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2515-2517)Gag>Cag		signal-induced proliferation-associated 1 like 2							132	128	129					1																	232600891		1989	4165	6154	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600891C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2515G>C	1.37:g.232600891C>G	ENSP00000355589:p.Glu839Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q	p.E839Q			Q9P2F8	SI1L2_HUMAN			8	2873	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	839					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2515G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866049	0.91511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.51071	0.72;0.72	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73820	-0.3862	10	0.72032	D	0.01	-38.6976	20.053	0.97634	0.0:1.0:0.0:0.0	.	839	Q9P2F8	SI1L2_HUMAN	Q	839	ENSP00000355589:E839Q;ENSP00000262861:E839Q	ENSP00000262861:E839Q	E	-	1	0	SIPA1L2	230667514	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		9	640	0	0	0	1	0	9	640					G	232600891	C	G	232600891	3	3	23	1	0	0	0	0	1	0	0	0	14380	864	30	5	2713	5	SIPA1L2	1	232600891	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	18043372	232600891	16649730	8	2830											
KIAA1804	84451	broad.mit.edu	37	chr1	233515284	233515284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcccactgccccaggAagtggtcgtgagccagccct	11	14	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:233515284A>G	ENST00000366624.3	+	9	2793	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	MLK4_ENST00000366622.1_Silent_p.G290G	NM_032435.2	NP_115811.2																					CTGCCCCAGGAAGTGGTCGTG	0.522																																						ENST00000366624.3																			0											c.(2530-2532)ggA>ggG									92	81	85					1																	233515284		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233515284A>G																												ENST00000366624.3:c.2532A>G	1.37:g.233515284A>G						MLK4_ENST00000366622.1_Silent_p.G290G	p.G844G	NM_032435.2	NP_115811.2					9	2793	+									Silent	SNP	ENST00000366624.3	37	c.2532A>G	CCDS1598.1																																																																																				0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			36	309	0	0	0	1	0	36	309					G	233515284	A	G	233515284	2	3	23	1	0	0	0	0	0	0	0	1	8289	233	9	4		4	KIAA1804	1	233515284	Silent	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	914393	233515284	15735337	9	2831											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164	166	166					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		7	788	0	0	0	1	0	7	788					A	46009639	G	A	46009639	3	1	23	1	0	0	0	0	1	0	0	0	6152	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		46009639	152012791	10	2832											
ROBO2	6092	broad.mit.edu	37	chr3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaacacaagggagggcGgatggaccaacaaccagcat	11	9	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000461745.1	+	24	4784	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1295					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGAGGGCGGATGGACCAA	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3883-3885)cGg>cAg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							104	107	106					3																	77684144		1981	4156	6137	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77684144G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3884G>A	3.37:g.77684144G>A	ENSP00000417164:p.Arg1295Gln					ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q	p.R1295Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	24	4784	+			1295					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3884G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346305	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.63096	0.01;0.05;-0.02	5.34	4.45	0.53987	.	0.224186	0.21846	N	0.068253	T	0.34832	0.0911	N	0.08118	0	0.28032	N	0.934087	B;P;B	0.46327	0.196;0.876;0.196	B;B;B	0.28784	0.016;0.094;0.016	T	0.54227	-0.8325	9	0.36615	T	0.2	.	14.9245	0.70866	0.0725:0.0:0.9275:0.0	.	1311;1356;1295	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	1311;1311;1295;1356	ENSP00000417335:R1311Q;ENSP00000417164:R1295Q;ENSP00000327536:R1356Q	ENSP00000327536:R1356Q	R	+	2	0	ROBO2	77766834	0.998000	0.40836	0.981000	0.43875	0.987000	0.75469	4.160000	0.58164	2.664000	0.90586	0.650000	0.86243	CGG		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	137	0	0	0	1	0	38	137					A	77684144	G	A	77684144	3	1	23	1	0	0	0	0	1	0	0	0	13564	1116	39	1	3980	1	ROBO2	3	77684144	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	31674505	77684144	120338286	11	2833											
C3orf15	89876	broad.mit.edu	37	chr3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcaatgttgtttatgCcgtatccaagtaagtaacca	7	9	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5																			0											c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205	201	203					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val					MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2					5	568	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	479	0	0	0	1	0	5	479					T	119428733	C	T	119428733	3	4	23	1	0	0	0	0	1	0	0	0	2216	739	26	2	509	2	C3orf15	3	119428733	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	41744589	119428733	78593697	12	2834											
CASR	846	broad.mit.edu	37	chr3	121980827	121980827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttccacgtggttggCggcaccattggattcgctct	11	12	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:121980827C>T	ENST00000490131.1	+	4	1317	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000498619.1_Silent_p.G315G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	315					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGTGGTTGGCGGCACCATTG	0.587																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(943-945)ggC>ggT		calcium-sensing receptor	Cinacalcet(DB01012)						59	52	54					3																	121980827		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980827C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.945C>T	3.37:g.121980827C>T						CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000490131.1_Silent_p.G315G	p.G315G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1383	+			315					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.945C>T	CCDS3010.1																																																																																				0.587	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	257	0	0	0	1	0	4	257					T	121980827	C	T	121980827	2	4	23	1	0	0	0	0	0	0	0	1	2689	755	27	1		1	CASR	3	121980827	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	2552094	121980827	76041603	13	2835											
PRR23A	729627	broad.mit.edu	37	chr3	138724864	138724864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggatcgacgttggcgGgagctccagcaccaggtcga	15	12	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:138724864G>A	ENST00000383163.2	-	1	246	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	83										endometrium(3)|kidney(1)|lung(7)	11						GACGTTGGCGGGAGCTCCAGC	0.672																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(247-249)Ccg>Tcg		proline rich 23A							13	17	16					3																	138724864		692	1590	2282	SO:0001583	missense	729627							g.chr3:138724864G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.247C>T	3.37:g.138724864G>A	ENSP00000372649:p.Pro83Ser					MRPS22_ENST00000495075.1_5'UTR	p.P83S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	246	-			83						Missense_Mutation	SNP	ENST00000383163.2	37	c.247C>T	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953147	0.18431	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.77	-0.322	0.12713	.	1.884440	0.02784	N	0.121281	T	0.29976	0.0750	N	0.22421	0.69	0.09310	N	1	B	0.26547	0.152	B	0.26517	0.07	T	0.25847	-1.0120	9	0.54805	T	0.06	.	4.9775	0.14148	0.0:0.3914:0.466:0.1426	.	83	A6NEV1	PR23A_HUMAN	S	83	.	ENSP00000372649:P83S	P	-	1	0	PRR23A	140207554	0.011000	0.17503	0.091000	0.20842	0.006000	0.05464	-0.712000	0.05013	-0.069000	0.12931	-0.570000	0.04155	CCG		0.672	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	59	0	0	0	1	0	4	59					A	138724864	G	A	138724864	3	1	23	1	0	0	0	0	1	0	0	0	12641	1232	43	2	557	2	PRR23A	3	138724864	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	16744037	138724864	59297566	14	2836											
XRN1	54464	broad.mit.edu	37	chr3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctggttcatttttgctcGaggagccacaccatctacag	9	12	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*|XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'UTR	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R91*(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTTTGCTCGAGGAGCCACA	0.338																																						ENST00000264951.4																			1	Substitution - Nonsense(1)	p.R91*(1)	endometrium(1)	NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(271-273)Cga>Tga		5'-3' exoribonuclease 1							42	40	40					3																	142151540		2203	4299	6502	SO:0001587	stop_gained	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151540G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.271C>T	3.37:g.142151540G>A	ENSP00000264951:p.Arg91*					XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*	p.R91*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			2	388	-			91					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Nonsense_Mutation	SNP	ENST00000264951.4	37	c.271C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683679	0.68157	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	.	.	.	5.94	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7693	13.4404	0.61109	0.0:0.0:0.6797:0.3203	.	.	.	.	X	91	.	ENSP00000264951:R91X	R	-	1	2	XRN1	143634230	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.127000	0.50484	2.816000	0.96949	0.561000	0.74099	CGA		0.338	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		17	134	0	0	0	1	0	17	134					A	142151540	G	A	142151540	4	1	23	1	0	0	0	0	0	1	0	0	17513	1066	37	1	5013	1	XRN1	3	142151540	Nonsense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3426676	142151540	55870890	15	2837											
TNIK	23043	broad.mit.edu	37	chr3	170811703	170811703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaggtctccagcccatgCgtccccaccattcccacatt	7	17	1	1	rs556088275		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:170811703C>T	ENST00000436636.2	-	23	2990	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000284483.8_Silent_p.T874T|TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000341852.6_Silent_p.T798T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	882	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGCCCATGCGTCCCCACCA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16823	0.0		0.0	False		,,,				2504	0.001					ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2644-2646)acG>acA		TRAF2 and NCK interacting kinase							111	112	112					3																	170811703		2075	4228	6303	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170811703C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2646G>A	3.37:g.170811703C>T						TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000341852.6_Silent_p.T798T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000284483.8_Silent_p.T874T	p.T882T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	2990	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		882			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2646G>A	CCDS46956.1																																																																																				0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	181	0	0	0	1	0	4	181					T	170811703	C	T	170811703	2	4	23	1	0	0	0	0	0	0	0	1	16365	755	27	1		1	TNIK	3	170811703	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	28660163	170811703	27210727	16	2838											
EPHB3	2049	broad.mit.edu	37	chr3	184294634	184294634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatattcctcacagccgtGccatctccaccccgaggtgt	7	17	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACAGCCGTGCCATCTCCAC	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1015-1017)gtG>gtT		EPH receptor B3							68	67	67					3																	184294634		2202	4293	6495	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294634G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1017G>T	3.37:g.184294634G>T						EIF2B5_ENST00000444495.1_Intron	p.V339V	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1469	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		339					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1017G>T	CCDS3268.1																																																																																				0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		27	174	1	0	7.38237e-10	1	7.89913e-10	27	174					T	184294634	G	T	184294634	2	4	23	1	0	0	0	0	0	0	0	1	5194	1306	46	3		3	EPHB3	3	184294634	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	13482931	184294634	13727796	17	2839											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-													tcgagtccctcaagtccttcCagcagcagcagcagcagcag					rs71180116|rs374076986	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-54)del		huntingtin																																				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076606delCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del						p.Q38del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_199	+		all_epithelial(65;0.18)	38			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_54delCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	6						3	6	---	---	---	---	-	3076606	CAG	-	3076604	7	5	23	1	0	1	0	1	0	0	0	0	7487	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-3A-A9I5-01A-11D-A38G-08		3076604	188077672	18	2840											
EGF	1950	broad.mit.edu	37	chr4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgagatgggtgtcccaGtgtgcccccctgcctcctcc	11	15	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000265171.5	+	18	3083	c.2638G>A	c.(2638-2640)Gtg>Atg	p.V880M	EGF_ENST00000509793.1_Missense_Mutation_p.V838M|EGF_ENST00000503392.1_Missense_Mutation_p.V880M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	880	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGGTGTCCCAGTGTGCCCCCC	0.463																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2638-2640)Gtg>Atg		epidermal growth factor	Sulindac(DB00605)						172	173	172					4																	110909769		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909769G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2638G>A	4.37:g.110909769G>A	ENSP00000265171:p.Val880Met					EGF_ENST00000503392.1_Missense_Mutation_p.V880M|EGF_ENST00000509793.1_Missense_Mutation_p.V838M	p.V880M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3083	+		Hepatocellular(203;0.0893)	880			EGF-like 7; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2638G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129552	0.37630	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.92199	1.97;-2.99;-2.99	5.25	3.48	0.39840	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.815723	0.11241	N	0.584665	D	0.88355	0.6414	N	0.25245	0.725	0.09310	N	1	P;P;P	0.51537	0.946;0.883;0.946	P;P;P	0.48840	0.592;0.456;0.592	T	0.79085	-0.1948	10	0.44086	T	0.13	.	9.6075	0.39643	0.0927:0.2322:0.6751:0.0	.	880;838;880	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	838;880;880	ENSP00000424316:V838M;ENSP00000265171:V880M;ENSP00000421384:V880M	ENSP00000265171:V880M	V	+	1	0	EGF	111129218	0.000000	0.05858	0.007000	0.13788	0.055000	0.15305	-0.548000	0.06048	1.206000	0.43276	0.655000	0.94253	GTG		0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			132	566	0	0	0	1	0	132	566					A	110909769	G	A	110909769	3	1	23	1	0	0	0	0	1	0	0	0	4978	1029	36	2	2708	2	EGF	4	110909769	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	107833165	110909769	80244507	19	2841											
ARHGAP10	79658	broad.mit.edu	37	chr4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattatttgcagggggAcggagaggtgttctttttga	14	3	1	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(943-945)gAc>gGc		Rho GTPase activating protein 10							148	144	145					4																	148802993		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148802993A>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.944A>G	4.37:g.148802993A>G	ENSP00000336923:p.Asp315Gly						p.D315G	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	10	1183	+	all_hematologic(180;0.151)	Renal(17;0.0166)	315			PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.944A>G	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368824	0.24771	.	.	ENSG00000071205	ENST00000336498	T	0.40756	1.02	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053409	0.85682	D	0.000000	T	0.38692	0.1050	L	0.56769	1.78	0.80722	D	1	B	0.31026	0.304	B	0.29077	0.098	T	0.19257	-1.0311	10	0.19590	T	0.45	.	14.2898	0.66270	1.0:0.0:0.0:0.0	.	315	A1A4S6	RHG10_HUMAN	G	315	ENSP00000336923:D315G	ENSP00000336923:D315G	D	+	2	0	ARHGAP10	149022443	1.000000	0.71417	0.826000	0.32828	0.073000	0.16967	8.306000	0.89962	1.853000	0.53794	0.482000	0.46254	GAC		0.408	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		7	429	0	0	0	1	0	7	429					G	148802993	A	G	148802993	3	3	23	1	0	0	0	0	1	0	0	0	862	275	10	4	982	4	ARHGAP10	4	148802993	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	37893224	148802993	42351283	20	2842											
IRF2	3660	broad.mit.edu	37	chr4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatctactcctggttgatgCtttcctaacaaaagagacaa	6	9	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	64					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTGATGCTTTCCTAACA	0.378																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(190-192)aaG>aaT		interferon regulatory factor 2							62	61	62					4																	185339858		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185339858C>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.192G>T	4.37:g.185339858C>A	ENSP00000377218:p.Lys64Asn					IRF2_ENST00000512020.1_5'UTR	p.K64N	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	4	399	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	64					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.192G>T	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711954	0.68730	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.26	5.26	0.73747	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.66297	2.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98597	1.0657	10	0.87932	D	0	-8.3921	12.7922	0.57541	0.0:0.9154:0.0:0.0846	.	64	P14316	IRF2_HUMAN	N	64	ENSP00000377218:K64N;ENSP00000427204:K64N;ENSP00000424552:K64N;ENSP00000422860:K64N	ENSP00000377218:K64N	K	-	3	2	IRF2	185576852	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.950000	0.40323	2.740000	0.93945	0.561000	0.74099	AAG		0.378	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			26	101	1	0	1.85244e-09	1	1.96249e-09	26	101					A	185339858	C	A	185339858	3	1	23	1	0	0	0	0	1	0	0	0	7858	796	28	3	881	3	IRF2	4	185339858	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	36536865	185339858	5814418	21	2843											
FGFR4	2264	broad.mit.edu	37	chr5	176523645	176523645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggagatcttcaccctcGggggctccccgtatcctggc	12	14	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr5:176523645G>A	ENST00000292408.4	+	16	2301	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R|FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	686	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CTTCACCCTCGGGGGCTCCCC	0.667										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2056-2058)Ggg>Agg		fibroblast growth factor receptor 4	Palifermin(DB00039)						75	74	74					5																	176523645		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523645G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2056G>A	5.37:g.176523645G>A	ENSP00000292408:p.Gly686Arg	TSP Lung(9;0.080)				FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R|FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R	p.G686R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2301	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	686			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2056G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	g	28.1	4.892229	0.91889	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	4.19	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.78637	2.42	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	0.97231	0.9884	10	0.87932	D	0	.	16.1407	0.81519	0.0:0.0:1.0:0.0	.	618;646;686	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	R	686;618;686;646;646;914	ENSP00000292408:G686R;ENSP00000377259:G618R;ENSP00000424960:G686R;ENSP00000292410:G646R;ENSP00000377254:G646R	ENSP00000292408:G686R	G	+	1	0	FGFR4	176456251	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.855000	0.99526	1.891000	0.54761	0.556000	0.70494	GGG		0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	450	0	0	0	1	0	5	450					A	176523645	G	A	176523645	3	1	23	1	0	0	0	0	1	0	0	0	5893	1116	39	1	2184	1	FGFR4	5	176523645	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		176523645	4391615	22	2844											
TDP2	51567	broad.mit.edu	37	chr6	24654677	24654682	+	In_Frame_Del	DEL	GGAAAA	GGAAAA	-													ttctcatcattttggtacttGgaaaaggaataatctcttgg							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:24654677_24654682delGGAAAA	ENST00000378198.4	-	5	764_769	c.594_599delTTTTCC	c.(592-600)ccttttcca>cca	p.198_200PFP>P	TDP2_ENST00000341060.3_In_Frame_Del_p.140_142PFP>P|TDP2_ENST00000545995.1_In_Frame_Del_p.228_230PFP>P|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	198					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTGGTACTTGGAAAAGGAATAATCT	0.272								Direct reversal of damage																														ENST00000341060.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(418-426)cca>cc	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2																																				SO:0001651	inframe_deletion	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24654677_24654682delGGAAAA	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.594_599delTTTTCC	6.37:g.24654677_24654682delGGAAAA	ENSP00000367440:p.Pro198_Phe199del					TDP2_ENST00000545995.1_In_Frame_Del_p.PFP228del|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000378198.4_In_Frame_Del_p.PFP198del	p.PFP140del			O95551	TYDP2_HUMAN			4	815_820	-			198					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	In_Frame_Del	DEL	ENST00000378198.4	37	c.420_425delTTTTCC	CCDS4557.1																																																																																				0.272	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			33	289						33	289	---	---	---	---	-	24654682	GGAAAA	-	24654677	7	5	23	1	0	1	0	1	0	0	0	0	15781	1348	47	0	501	0	TDP2	6	24654677	In_Frame_Del	DEL	GGAAAA	TCGA-3A-A9I5-01A-11D-A38G-08		24654677	146460390	23	2845											
KHDRBS2	202559	broad.mit.edu	37	chr6	62687982	62687983	+	Frame_Shift_Ins	INS	-	-	T													acacttacaggaaccaggaaINSttttttaatctcttccaatg							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:62687982_62687983insT	ENST00000281156.4	-	4	749_750	c.471_472insA	c.(469-474)aaattcfs	p.F158fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAACCAGGAATTTTTTAATCT	0.351																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(469-474)aatcctfs		KH domain containing, RNA binding, signal transduction associated 2																																				SO:0001589	frameshift_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62687982_62687983insT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.472dupA	6.37:g.62687988_62687988dupT	ENSP00000281156:p.Phe158fs						p.NP157fs	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	749_750	-			157					A8K7M8|Q8N4I4|Q8TCZ4	Frame_Shift_Ins	INS	ENST00000281156.4	37	c.471_472insA	CCDS4963.1																																																																																				0.351	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		65	374						65	374	---	---	---	---	T	62687983	-	T	62687982	7	5	23	1	0	1	1	0	0	0	0	0	8177	101	4	0	601	0	KHDRBS2	6	62687982	Frame_Shift_Ins	INS	-	TCGA-3A-A9I5-01A-11D-A38G-08	38033305	62687982	108427085	24	2846											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-													accccaaatatcctttacccTttttttctcctgtagatatt							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112	120	117					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			9	683						9	683	---	---	---	---	-	109757309	T	-	109757309	7	5	23	1	0	1	0	1	0	0	0	0	12378	1608	56	0	816	0	PPIL6	6	109757309	Frame_Shift_Del	DEL	T	TCGA-3A-A9I5-01A-11D-A38G-08	47069327	109757309	61357758	25	2847											
VGLL2	245806	broad.mit.edu	37	chr6	117593645	117593645	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattccctctgtggtgcatcCctcctgagctgatctgctga	9	13	2	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	314					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GTGGTGCATCCCTCCTGAGCT	0.542																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(940-942)tcC>tcG		vestigial like 2 (Drosophila)							470	393	419					6																	117593645		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117593645C>G	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.942C>G	6.37:g.117593645C>G						VGLL2_ENST00000352536.3_Silent_p.S140S	p.S314S	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1132	+			314					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.942C>G	CCDS5115.1																																																																																				0.542	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		156	1003	0	0	0	1	0	156	1003					G	117593645	C	G	117593645	2	3	23	1	0	0	0	0	0	0	0	1	17213	610	22	5		5	VGLL2	6	117593645	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	7836336	117593645	53521422	26	2848											
LATS1	9113	broad.mit.edu	37	chr6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctggttttaatacacGcatacttttcacaggctgtt	7	9	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443																																						ENST00000543571.1																			1	Substitution - Missense(1)	p.R502C(1)	lung(1)	central_nervous_system(1)|lung(5)	6						c.(1504-1506)Cgt>Tgt		large tumor suppressor kinase 1							134	139	137					6																	150004721		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004721G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1504C>T	6.37:g.150004721G>A	ENSP00000437550:p.Arg502Cys					LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR	p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2051	-		Ovarian(120;0.0164)	502						Missense_Mutation	SNP	ENST00000543571.1	37	c.1504C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT		0.443	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		82	497	0	0	0	1	0	82	497					A	150004721	G	A	150004721	3	1	23	1	0	0	0	0	1	0	0	0	8677	1087	38	1	1908	1	LATS1	6	150004721	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	32411076	150004721	21110346	27	2849											
KBTBD2	25948	broad.mit.edu	37	chr7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttctgaaggcagtctgaaGtttgcttgttttactgtgat	11	5	2	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	340										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCAGTCTGAAGTTTGCTTGTT	0.403																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1018-1020)Ctt>Att		kelch repeat and BTB (POZ) domain containing 2							214	200	205					7																	32909811		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909811G>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1018C>A	7.37:g.32909811G>T	ENSP00000302586:p.Leu340Ile					AVL9_ENST00000404479.1_Intron	p.L340I	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1717	-			340					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1018C>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	3.828	-0.036369	0.07497	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.67345	-0.26	5.65	1.87	0.25490	Kelch-type beta propeller (1);	0.248699	0.40554	N	0.001063	T	0.58293	0.2112	L	0.54323	1.7	0.41608	D	0.988898	B	0.06786	0.001	B	0.06405	0.002	T	0.52555	-0.8560	10	0.45353	T	0.12	.	10.35	0.43929	0.2573:0.0:0.7427:0.0	.	340	Q8IY47	KBTB2_HUMAN	I	340;147	ENSP00000302586:L340I	ENSP00000302586:L340I	L	-	1	0	KBTBD2	32876336	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.583000	0.46094	0.140000	0.18849	-0.339000	0.08088	CTT		0.403	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		102	584	1	0	3.59399e-54	1	4.04796e-54	102	584					T	32909811	G	T	32909811	3	4	23	1	0	0	0	0	1	0	0	0	8023	1029	36	3	857	3	KBTBD2	7	32909811	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		32909811	126228852	28	2850											
ABCB4	5244	broad.mit.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A													gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	192						7	192	---	---	---	---	A	87074282	-	A	87074281	7	5	23	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-3A-A9I5-01A-11D-A38G-08	54164470	87074281	72064382	29	2851											
EGR3	1960	broad.mit.edu	37	chr8	22550452	22550452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcggcgagtttgccGgtcatagcactcccgagctg	12	13	2	0	rs375168773		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'Flank|EGR3_ENST00000522910.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	2					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGTTTGCCGGTCATAGCAC	0.657																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(4-6)acC>acT		early growth response 3		G		0,4406		0,0,2203	39	35	36		6	4	1	8		36	1,8599		0,1,4299	no	coding-synonymous	EGR3	NM_004430.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2/388	22550452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22550452G>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.6C>T	8.37:g.22550452G>A						EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA	p.T2T	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	1	363	-		Prostate(55;0.0421)|Breast(100;0.102)	2					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	c.6C>T	CCDS6033.1																																																																																				0.657	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		4	126	0	0	0	1	0	4	126					A	22550452	G	A	22550452	2	1	23	1	0	0	0	0	0	0	0	1	4989	1103	39	1		1	EGR3	8	22550452	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		22550452	123813570	30	2852											
ANK1	286	broad.mit.edu	37	chr8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccacatggccctcacGggctgcaatgtgcagggggg	15	11	1	0	rs369968960		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000347528.4	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396942.1_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	512	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19013	0.001		0.0	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1534-1536)Cgt>Tgt		ankyrin 1, erythrocytic		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	83	85		1534,1633,1534,1534,1534	6	1	8		85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	512/1881,545/1898,512/1857,512/1882,512/1720	41573238	1,13005	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41573238G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1534C>T	8.37:g.41573238G>A	ENSP00000339620:p.Arg512Cys					ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C|ANK1_ENST00000347528.4_Missense_Mutation_p.R512C	p.R512C			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		14	1617	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	512			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1534C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162987	0.57476	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.059791	0.64402	D	0.000002	T	0.80565	0.4647	M	0.69185	2.1	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.703;0.997;1.0	D;D;B;P;D	0.79108	0.992;0.98;0.108;0.68;0.992	T	0.81284	-0.1002	10	0.87932	D	0	.	15.9973	0.80260	0.0:0.0:0.8649:0.1351	.	545;512;512;512;512	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	C	512;512;512;512;512;512;545;512	ENSP00000339620:R512C;ENSP00000289734:R512C;ENSP00000369082:R512C;ENSP00000380149:R512C;ENSP00000380147:R512C;ENSP00000309131:R512C;ENSP00000265709:R545C	ENSP00000265709:R545C	R	-	1	0	ANK1	41692395	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	5.396000	0.66297	2.868000	0.98415	0.555000	0.69702	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		35	283	0	0	0	1	0	35	283					A	41573238	G	A	41573238	3	1	23	1	0	0	0	0	1	0	0	0	620	1116	39	1	4581	1	ANK1	8	41573238	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	19022786	41573238	104790784	31	2853											
KIF27	55582	broad.mit.edu	37	chr9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctgtagctgctTttgtgtttcaatcagttcga	8	10	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	780					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAGCTGCTTTTGTGTTTCA	0.388																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(2338-2340)Aag>Tag		kinesin family member 27							154	141	146					9																	86498835		2203	4299	6502	SO:0001587	stop_gained	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86498835T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2338A>T	9.37:g.86498835T>A	ENSP00000297814:p.Lys780*					KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*	p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			10	2481	-			780					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	ENST00000297814.2	37	c.2338A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	40	8.370270	0.98781	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	5.36	5.36	0.76844	.	0.093400	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3543	0.74415	0.0:0.0:0.0:1.0	.	.	.	.	X	780;780;780;171	.	ENSP00000297814:K780X	K	-	1	0	KIF27	85688655	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	3.791000	0.55469	2.022000	0.59522	0.477000	0.44152	AAG		0.388	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		26	535	0	0	0	1	0	26	535					A	86498835	T	A	86498835	4	1	23	1	0	0	0	0	0	1	0	0	8326	1850	64	5	1903	5	KIF27	9	86498835	Nonsense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08		86498835	54714596	32	2854											
RPL7A	6130	broad.mit.edu	37	chr9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagatccgccgtcactgGggtggcaatgtcctgggtcc	13	12	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	237					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GCCGTCACTGGGGTGGCAATG	0.453																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(709-711)tgG>tgT		ribosomal protein L7a							78	75	76					9																	136218131		2203	4300	6503	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136218131G>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.711G>T	9.37:g.136218131G>T	ENSP00000361076:p.Trp237Cys					RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C	p.W237C	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	8	741	+			237					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.711G>T	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814931	0.32053	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.70164	0.06;-0.46	5.29	5.29	0.74685	.	0.057096	0.85682	D	0.000000	D	0.85256	0.5655	H	0.97783	4.075	0.80722	D	1	P	0.37997	0.614	P	0.47044	0.535	D	0.89670	0.3883	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	237	P62424	RL7A_HUMAN	C	237;122	ENSP00000361076:W237C;ENSP00000361071:W122C	ENSP00000361071:W122C	W	+	3	0	RPL7A	135207952	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	TGG		0.453	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		4	174	1	0	0.00909568	1	0.00926893	4	174					T	136218131	G	T	136218131	3	4	23	1	0	0	0	0	1	0	0	0	13650	1241	43	3	741	3	RPL7A	9	136218131	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	49719296	136218131	4995300	33	2855											
MRC1	4360	broad.mit.edu	37	chr10	17949641	17949641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaatgattgtgtagctttAcatgcgtcttctgggttttg	12	6	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTAGCTTTACATGCGTCTT	0.423																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(4003-4005)ttA>ttG									154	162	159					10																	17949641		2186	4283	6469	SO:0001819	synonymous_variant	0							g.chr10:17949641A>G																												ENST00000331429.2:c.4005A>G	10.37:g.17949641A>G							p.L1335L							28	4108	+									Silent	SNP	ENST00000331429.2	37	c.4005A>G																																																																																					0.423	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			108	532	0	0	0	1	0	108	532					G	17949641	A	G	17949641	2	3	23	1	0	0	0	0	0	0	0	1	9797	388	14	4		4	MRC1	10	17949641	Silent	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08		17949641	117585106	34	2856											
ZEB1	6935	broad.mit.edu	37	chr10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagatgcattttcacaatTactcacctgtccatattgtg	5	11	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000320985.10	+	5	616	c.506T>C	c.(505-507)tTa>tCa	p.L169S	ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S|ZEB1_ENST00000446923.2_Missense_Mutation_p.L153S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	169					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTTTCACAATTACTCACCTGT	0.318																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(457-459)tTa>tCa		zinc finger E-box binding homeobox 1							69	67	68					10																	31799625		2202	4300	6502	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31799625T>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.506T>C	10.37:g.31799625T>C	ENSP00000319248:p.Leu169Ser					ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S|ZEB1_ENST00000320985.10_Missense_Mutation_p.L169S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S	p.L153S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			5	849	+		Prostate(175;0.0156)	169					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.458T>C	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.532407|4.532407	0.85812|0.85812	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.15139|.	2.45;2.52;2.45;2.52;2.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.291763|.	0.23908|.	N|.	0.043369|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.998;0.998;0.999;0.998;0.998|.	T|T	0.66143|0.66143	-0.5997|-0.5997	10|6	0.72032|0.18276	D|T	0.01|0.48	-8.4191|-8.4191	16.1952|16.1952	0.82023|0.82023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;169;153;169;169;149;170;169|.	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;.;.;ZEB1_HUMAN|.	S|H	169;170;169;102;169;149;28;170;153|61	ENSP00000354487:L170S;ENSP00000444891:L102S;ENSP00000319248:L169S;ENSP00000415961:L170S;ENSP00000391612:L153S|.	ENSP00000319248:L169S|ENSP00000443742:Y61H	L|Y	+|+	2|1	0|0	ZEB1|ZEB1	31839631|31839631	1.000000|1.000000	0.71417|0.71417	0.883000|0.883000	0.34634|0.34634	0.979000|0.979000	0.70002|0.70002	7.630000|7.630000	0.83225|0.83225	2.236000|2.236000	0.73375|0.73375	0.482000|0.482000	0.46254|0.46254	TTA|TAC		0.318	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		56	228	0	0	0	1	0	56	228					C	31799625	T	C	31799625	3	2	23	1	0	0	0	0	1	0	0	0	17676	1764	61	4	538	4	ZEB1	10	31799625	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	13849984	31799625	103735122	35	2857											
ZNF32	7580	broad.mit.edu	37	chr10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctgtgtggattttgCcatgcagaatacaattcccc	7	12	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GTGGATTTTGCCATGCAGAAT	0.532																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(706-708)gGc>gAc		zinc finger protein 32							89	89	89					10																	44139613		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139613C>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.707G>A	10.37:g.44139613C>T	ENSP00000379143:p.Gly236Asp					ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D	p.G236D	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	895	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	236					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.707G>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107138	0.37145	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07444	3.19;3.19	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135771	0.34411	N	0.003995	T	0.08044	0.0201	L	0.37750	1.13	0.33588	D	0.60073	B	0.15930	0.015	B	0.22880	0.042	T	0.02766	-1.1113	10	0.87932	D	0	-4.6653	8.9989	0.36069	0.0:0.9032:0.0:0.0968	.	236	P17041	ZNF32_HUMAN	D	236	ENSP00000363556:G236D;ENSP00000379143:G236D	ENSP00000363556:G236D	G	-	2	0	ZNF32	43459619	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.715000	0.25822	2.876000	0.98609	0.655000	0.94253	GGC		0.532	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		4	222	0	0	0	1	0	4	222					T	44139613	C	T	44139613	3	4	23	1	0	0	0	0	1	0	0	0	17891	739	26	2	118	2	ZNF32	10	44139613	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	12339988	44139613	91395134	36	2858											
ANK3	288	broad.mit.edu	37	chr10	61831534	61831534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtttcctcgagaggtggGcataaacctacataactctg	10	10	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3035					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9103-9105)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							79	87	85					10																	61831534		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831534G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9105C>T	10.37:g.61831534G>A						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.C3035C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9296	-			3035					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9105C>T	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	553	0	0	0	1	0	6	553					A	61831534	G	A	61831534	2	1	23	1	0	0	0	0	0	0	0	1	622	1195	42	2		2	ANK3	10	61831534	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	17691921	61831534	73703213	37	2859											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		9	889						9	889	---	---	---	---	A	63149669	-	A	63149668	7	5	23	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-3A-A9I5-01A-11D-A38G-08		63149668	71856848	38	2860											
FAT3	120114	broad.mit.edu	37	chr11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacagcatcttaaaccCaggaaataagttcaagataa	5	7	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000298047.6	+	9	6082	c.6065C>A	c.(6064-6066)cCa>cAa	p.P2022Q	FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2022	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTTAAACCCAGGAAATAAG	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6064-6066)cCa>cAa		FAT atypical cadherin 3							75	75	75					11																	92532244		1851	4093	5944	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532244C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6065C>A	11.37:g.92532244C>A	ENSP00000298047:p.Pro2022Gln	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q	p.P2022Q			Q8TDW7	FAT3_HUMAN			9	6082	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2022			Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6065C>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813099	0.50527	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	.	.	.	.	.	T	0.36413	0.0966	L	0.32530	0.975	0.80722	D	1	P	0.35656	0.514	B	0.27715	0.082	T	0.31280	-0.9949	9	0.66056	D	0.02	.	14.8861	0.70570	0.1434:0.8566:0.0:0.0	.	2022	Q8TDW7-3	.	Q	2022;2022;1872	ENSP00000298047:P2022Q;ENSP00000387040:P2022Q;ENSP00000432586:P1872Q	ENSP00000298047:P2022Q	P	+	2	0	FAT3	92171892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.778000	0.62368	2.760000	0.94817	0.655000	0.94253	CCA		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	316	1	0	0.014758	1	0.014758	5	316					A	92532244	C	A	92532244	3	1	23	1	0	0	0	0	1	0	0	0	5716	594	21	3	6099	3	FAT3	11	92532244	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	29382576	92532244	42474272	39	2861											
LEPREL2	10536	broad.mit.edu	37	chr12	6940383	6940383	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgctccctctccagtggGcaatctgtcccaggctatag	10	14	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:6940383G>A	ENST00000538102.1	+	0	207				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCAGTGGGCAATCTGTCC	0.567																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							121	123	122					12																	6940383		1979	4167	6146			10536							g.chr12:6940383G>A	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6940383G>A						LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA		NM_014262.3	NP_055077.2					0	1022	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	G	19.39	3.819217	0.71028	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.67865	0.73;-0.29	5.47	4.58	0.56647	Tetratricopeptide-like helical (1);	0.101917	0.64402	D	0.000002	T	0.78910	0.4358	.	.	.	0.58432	D	0.999997	D	0.76494	0.999	D	0.65573	0.936	T	0.80362	-0.1414	9	0.62326	D	0.03	.	10.2943	0.43613	0.1501:0.0:0.8499:0.0	.	330	Q8IVL6	P3H3_HUMAN	D	329;145	ENSP00000379951:G329D;ENSP00000290510:G145D	ENSP00000290510:G145D	G	+	2	0	LEPREL2	6810644	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.566000	0.67372	1.308000	0.44962	0.491000	0.48974	GGC		0.567	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		5	457	0	0	0	1	0	5	457					A	6940383	G	A	6940383	1	1	23	0	1	0	0	0	0	0	0	0	8762	1203	42	2		2	LEPREL2	12	6940383	RNA	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		6940383	126911512	40	2862											
LRP6	4040	broad.mit.edu	37	chr12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtaaacccatcgcaccGccaagccacagggatacagt	8	14	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000261349.4	-	18	3881	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	LRP6_ENST00000543091.1_Intron|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1269	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATCGCACCGCCAAGCCACA	0.483																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3805-3807)Cgg>Tgg		low density lipoprotein receptor-related protein 6							94	85	88					12																	12284920		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12284920G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3805C>T	12.37:g.12284920G>A	ENSP00000261349:p.Arg1269Trp					LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	p.R1269W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			18	3881	-		Prostate(47;0.0865)	1269			LDL-receptor class A 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3805C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726908	0.69074	.	.	ENSG00000070018	ENST00000261349	D	0.95980	-3.87	5.92	1.86	0.25419	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000024	D	0.96914	0.8992	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96190	0.9137	10	0.52906	T	0.07	.	15.8612	0.79021	0.0:0.0:0.5352:0.4648	.	1269	O75581	LRP6_HUMAN	W	1269	ENSP00000261349:R1269W	ENSP00000261349:R1269W	R	-	1	2	LRP6	12176187	1.000000	0.71417	0.958000	0.39756	0.805000	0.45488	2.391000	0.44424	0.378000	0.24764	-0.182000	0.12963	CGG		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	251	0	0	0	1	0	5	251					A	12284920	G	A	12284920	3	1	23	1	0	0	0	0	1	0	0	0	9000	1086	38	1	1060	1	LRP6	12	12284920	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	5344537	12284920	121566975	41	2863											
LRMP	55259	broad.mit.edu	37	chr12	25260900	25260900	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagaagtctgtggatgCcgctcccacacagcaagagg	11	12	1	2	rs116094067		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:25260900C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000354454.3_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTGTGGATGCCGCTCCCACA	0.498																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1405-1407)gCc>gTc		lymphoid-restricted membrane protein							118	112	114					12																	25260900		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260900C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260900C>T						LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2235	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		525					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1406C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908876	0.72868	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.53	4.63	0.57726	.	0.130731	0.50627	D	0.000120	T	0.40067	0.1102	M	0.71581	2.175	0.48632	D	0.99968	D	0.76494	0.999	D	0.72982	0.979	T	0.27157	-1.0082	10	0.59425	D	0.04	-14.0401	13.5703	0.61843	0.0:0.7021:0.2979:0.0	.	525	Q12912	LRMP_HUMAN	V	469;416;469;469	ENSP00000346442:A469V;ENSP00000444056:A416V;ENSP00000446496:A469V;ENSP00000450246:A469V	ENSP00000346442:A469V	A	+	2	0	LRMP	25152167	0.999000	0.42202	0.235000	0.24058	0.633000	0.38033	4.579000	0.60936	1.298000	0.44778	0.557000	0.71058	GCC		0.498	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		6	471	0	0	0	1	0	6	471					T	25260900	C	T	25260900	1	4	23	0	1	0	0	0	0	0	0	0	8988	739	26	2		2	LRMP	12	25260900	IGR	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	12975980	25260900	108590995	42	2864											
LRRK2	120892	broad.mit.edu	37	chr12	40716292	40716294	+	In_Frame_Del	DEL	TGA	TGA	-													aaaaatcttacttgatgactTgatgaagaaagcagaggaag							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:40716292_40716294delTGA	ENST00000298910.7	+	37	5547_5549	c.5489_5491delTGA	c.(5488-5493)ttgatg>ttg	p.M1831del		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1831					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)			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)				CTTGATGACTTGATGAAGAAAGC	0.3																																						ENST00000298910.7																			0				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						c.(5488-5493)ttg>t		leucine-rich repeat kinase 2																																				SO:0001651	inframe_deletion	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.chr12:40716292_40716294delTGA	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.5489_5491delTGA	12.37:g.40716295_40716297delTGA	ENSP00000298910:p.Met1831del						p.LM1830del	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			37	5547_5549	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1830					A6NJU2|Q6ZS50|Q8NCX9	In_Frame_Del	DEL	ENST00000298910.7	37	c.5489_5491delTGA	CCDS31774.1																																																																																				0.3	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		54	356						54	356	---	---	---	---	-	40716294	TGA	-	40716292	7	5	23	1	0	1	0	1	0	0	0	0	9071	1821	63	0	5635	0	LRRK2	12	40716292	In_Frame_Del	DEL	TGA	TCGA-3A-A9I5-01A-11D-A38G-08	15455392	40716292	93135603	43	2865											
MARS	4141	broad.mit.edu	37	chr12	57898028	57898028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctcagtgtaaagtctgCcgatcatgccctgtggtgca	11	11	3	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:57898028C>T	ENST00000262027.5	+	11	1448	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	438					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAAAGTCTGCCGATCATGCC	0.557																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1312-1314)tgC>tgT		methionyl-tRNA synthetase	L-Methionine(DB00134)						122	111	115					12																	57898028		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57898028C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1314C>T	12.37:g.57898028C>T						MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	p.C438C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		11	1448	+			438					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.1314C>T	CCDS8942.1																																																																																				0.557	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		6	456	0	0	0	1	0	6	456					T	57898028	C	T	57898028	2	4	23	1	0	0	0	0	0	0	0	1	9357	747	26	2		2	MARS	12	57898028	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	17181736	57898028	75953867	44	2866											
C12orf63	144535	broad.mit.edu	37	chr12	97102439	97102439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttctggttacaattggCcaaccacatctcttaaataa	6	10	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:97102439C>T	ENST00000524981.4	+	48	6605	c.6582C>T	c.(6580-6582)ggC>ggT	p.G2194G				Q96N23	CL055_HUMAN		0																	TTACAATTGGCCAACCACATC	0.308																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1933-1935)ggC>ggT									79	81	81					12																	97102439		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr12:97102439C>T																												ENST00000524981.4:c.6582C>T	12.37:g.97102439C>T							p.G645G			Q6ZTY8	CL063_HUMAN			15	1935	+			619						Silent	SNP	ENST00000524981.4	37	c.1935C>T																																																																																					0.308	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			5	411	0	0	0	1	0	5	411					T	97102439	C	T	97102439	2	4	23	1	0	0	0	0	0	0	0	1	1711	726	26	2		2	C12orf63	12	97102439	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	39204411	97102439	36749456	45	2867											
IFT88	8100	broad.mit.edu	37	chr13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaaaaaaaggacagtAgagtgaaaagtgcagctgca	13	4	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000319980.6	+	18	1693	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000382778.4_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	456					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338																																						ENST00000382778.4																			1	Substitution - Missense(1)	p.R456G(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1366-1368)Aga>Gga		intraflagellar transport 88 homolog (Chlamydomonas)							118	120	119					13																	21205194		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21205194A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1366A>G	13.37:g.21205194A>G	ENSP00000323580:p.Arg456Gly					IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000319980.6_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000461115.1_3'UTR	p.R456G			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	17	2484	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	456					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1366A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254980	0.59321	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75938	-0.98;0.84;0.84;0.84	5.42	2.75	0.32379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.44734	0.842;0.756;0.243;0.376	P;B;B;B	0.47645	0.553;0.351;0.09;0.079	T	0.76498	-0.2937	10	0.39692	T	0.17	-17.5293	13.3327	0.60497	0.7395:0.2605:0.0:0.0	.	428;456;254;456	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	456;319;447;456;428	ENSP00000372228:R456G;ENSP00000261632:R447G;ENSP00000323580:R456G;ENSP00000437719:R428G	ENSP00000323580:R456G	R	+	1	2	IFT88	20103194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.849000	0.35215	0.533000	0.62120	AGA		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		83	488	0	0	0	1	0	83	488					G	21205194	A	G	21205194	3	3	23	1	0	0	0	0	1	0	0	0	7596	412	15	4	1428	4	IFT88	13	21205194	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08		21205194	93964684	46	2868											
COG6	57511	broad.mit.edu	37	chr13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acattagctctatttgaattCactgacagacgtctggaaat	7	8	3	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000455146.3	+	15	1601	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000416691.1_Missense_Mutation_p.F517L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	517					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTGAATTCACTGACAGAC	0.348																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1549-1551)ttC>ttA		component of oligomeric golgi complex 6							93	88	90					13																	40293931		2203	4299	6502	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40293931C>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1551C>A	13.37:g.40293931C>A	ENSP00000397441:p.Phe517Leu					COG6_ENST00000455146.3_Missense_Mutation_p.F517L	p.F517L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	15	1651	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	517					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1551C>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534911	0.85812	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.56275	0.47;0.47	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.985	D;P	0.63381	0.914;0.873	T	0.70722	-0.4794	10	0.41790	T	0.15	-31.3845	10.4589	0.44567	0.0:0.8468:0.0:0.1532	.	538;517	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	517;548;517	ENSP00000403733:F517L;ENSP00000397441:F517L	ENSP00000255468:F548L	F	+	3	2	COG6	39191931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.407000	0.34657	2.661000	0.90470	0.655000	0.94253	TTC		0.348	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			55	388	1	0	1.67886e-27	1	1.85194e-27	55	388					A	40293931	C	A	40293931	3	1	23	1	0	0	0	0	1	0	0	0	3671	825	29	3	1609	3	COG6	13	40293931	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	19088737	40293931	74875947	47	2869											
CELF6	60677	broad.mit.edu	37	chr15	72611989	72611989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccggtccttcagcaccGtcagctcgtagatgcggccg	13	14	2	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:72611989G>A	ENST00000569547.1	-	1	298	c.227C>T	c.(226-228)aCg>aTg	p.T76M	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M|CELF6_ENST00000539635.1_De_novo_Start_OutOfFrame|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTCAGCACCGTCAGCTCGTA	0.672																																						ENST00000539635.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13								CUGBP, Elav-like family member 6							26	20	22					15																	72611989		2196	4290	6486	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72611989G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.227C>T	15.37:g.72611989G>A	ENSP00000454749:p.Thr76Met					RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M				Q96J87	CELF6_HUMAN			0	139	-								B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Translation_Start_Site	SNP	ENST00000569547.1	37		CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140441	0.77775	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.16597	2.33	4.76	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.45361	U	0.000362	T	0.36936	0.0985	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.15093	-1.0449	10	0.87932	D	0	-12.5926	16.3333	0.83050	0.0:0.0:1.0:0.0	.	76;76	B4DJB6;Q96J87	.;CELF6_HUMAN	M	76	ENSP00000287202:T76M	ENSP00000287202:T76M	T	-	2	0	CELF6	70399043	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.551000	0.82182	2.182000	0.69389	0.563000	0.77884	ACG		0.672	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		3	30	0	0	0	1	0	3	30					A	72611989	G	A	72611989	3	1	23	1	0	0	0	0	1	0	0	0	3229	1145	40	1	1266	1	CELF6	15	72611989	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		72611989	29919403	48	2870											
PTX4	390667	broad.mit.edu	37	chr16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgggccacgggcagccGcccctccagagcagccagcc	15	17	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000293922.1_Missense_Mutation_p.R169W|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	174						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACGGGCAGCCGCCCCTCCAGA	0.721																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(520-522)Cgg>Tgg		pentraxin 4, long							11	13	12					16																	1537593		2163	4220	6383	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537593G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.520C>T	16.37:g.1537593G>A	ENSP00000445277:p.Arg174Trp					PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R169W	p.R174W			Q96A99	PTX4_HUMAN			2	545	-			174						Missense_Mutation	SNP	ENST00000447419.2	37	c.520C>T		.	.	.	.	.	.	.	.	.	.	G	9.721	1.159636	0.21454	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05996	3.52;3.36	5.28	0.783	0.18572	.	2.155680	0.01935	N	0.041519	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39165	-0.9627	10	0.42905	T	0.14	.	6.0711	0.19889	0.2607:0.0:0.608:0.1313	.	169	Q96A99-2	.	W	174;169	ENSP00000445277:R174W;ENSP00000293922:R169W	ENSP00000293922:R169W	R	-	1	2	PTX4	1477594	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.388000	0.20735	-0.209000	0.10156	-2.067000	0.00394	CGG		0.721	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		8	41	0	0	0	1	0	8	41					A	1537593	G	A	1537593	3	1	23	1	0	0	0	0	1	0	0	0	12873	1086	38	1	923	1	PTX4	16	1537593	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		1537593	88817160	49	2871											
PKD1	5310	broad.mit.edu	37	chr16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtccaggtgccggtggCcgctccggctgtccacccca	13	19	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3150	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCCGGTGGCCGCTCCGGCT	0.672																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9448-9450)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							30	29	29					16																	2150516		2194	4286	6480	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150516C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9449G>A	16.37:g.2150516C>T	ENSP00000262304:p.Gly3150Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	p.G3150D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			27	9657	-			3150			PLAT.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.9449G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579605	0.86645	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.66280	-0.2;-0.2	4.49	4.49	0.54785	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.054327	0.64402	D	0.000001	T	0.77356	0.4118	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75374	-0.3340	10	0.28530	T	0.3	.	17.3723	0.87382	0.0:1.0:0.0:0.0	.	3150;3150	P98161-3;P98161	.;PKD1_HUMAN	D	3150;3150;2485	ENSP00000262304:G3150D;ENSP00000399501:G3150D	ENSP00000262304:G3150D	G	-	2	0	PKD1	2090517	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	7.193000	0.77780	2.326000	0.78906	0.555000	0.69702	GGC		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	119	0	0	0	1	0	4	119					T	2150516	C	T	2150516	3	4	23	1	0	0	0	0	1	0	0	0	12005	739	26	2	3542	2	PKD1	16	2150516	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	612923	2150516	88204237	50	2872											
NLRC5	84166	broad.mit.edu	37	chr16	57074566	57074566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtccctccagggctGcatttcttgacagcctcatg	11	12	2	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57074566G>A	ENST00000262510.6	+	17	3100	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T|NLRC5_ENST00000436936.1_Missense_Mutation_p.A959T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	959					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGGGCTGCATTTCTTGA	0.587																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2875-2877)Gca>Aca		NLR family, CARD domain containing 5							121	99	107					16																	57074566		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57074566G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2875G>A	16.37:g.57074566G>A	ENSP00000262510:p.Ala959Thr					NLRC5_ENST00000262510.6_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T	p.A959T			Q86WI3	NLRC5_HUMAN			17	3100	+		all_neural(199;0.225)	959					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2875G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245915|2.245915	0.39697|0.39697	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.73152|.	-0.57;-0.59;-0.72;-0.59;2.4;2.25|.	3.62|3.62	-0.785|-0.785	0.10950|0.10950	.|.	.|.	.|.	.|.	.|.	T|T	0.22820|0.22820	0.0551|0.0551	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21147|.	0.024;0.024;0.052;0.017|.	B;B;B;B|.	0.19148|.	0.01;0.011;0.024;0.017|.	T|T	0.26710|0.26710	-1.0095|-1.0095	9|5	0.15066|.	T|.	0.55|.	.|.	3.4484|3.4484	0.07488|0.07488	0.3802:0.1998:0.42:0.0|0.3802:0.1998:0.42:0.0	.|.	959;959;959;959|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	T|Y	959;959;959;433;959;466;258|711	ENSP00000262510:A959T;ENSP00000308886:A959T;ENSP00000389739:A959T;ENSP00000441727:A959T;ENSP00000441597:A466T;ENSP00000440153:A258T|.	ENSP00000262510:A959T|.	A|C	+|+	1|2	0|0	NLRC5|NLRC5	55632067|55632067	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.196000|0.196000	0.23810|0.23810	0.206000|0.206000	0.17375|0.17375	-0.109000|-0.109000	0.12044|0.12044	-0.259000|-0.259000	0.10710|0.10710	GCA|TGC		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	239	0	0	0	1	0	5	239					A	57074566	G	A	57074566	3	1	23	1	0	0	0	0	1	0	0	0	10512	1319	46	2	2933	2	NLRC5	16	57074566	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	54924050	57074566	33280187	51	2873											
CPNE2	221184	broad.mit.edu	37	chr16	57157386	57157386	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccagctcatgttcaccGtaaggctctccccgctggct	10	16	3	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000565874.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000537605.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II							extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATGTTCACCGTAAGGCTCTC	0.577																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.e11+1		copine II							114	96	102					16																	57157386		2198	4300	6498	SO:0001630	splice_region_variant	221184							g.chr16:57157386G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.927+1G>A	16.37:g.57157386G>A						CPNE2_ENST00000537605.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000565874.1_Splice_Site				Q96FN4	CPNE2_HUMAN			11	1288	+		all_neural(199;0.224)						Q68D19|Q719H8|Q86XP9	Splice_Site	SNP	ENST00000535318.2	37		CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493625	0.64186	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE2	55714887	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.789000	0.99068	2.456000	0.83038	0.561000	0.74099	.		0.577	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	Intron	5	285	0	0	0	1	0	5	285					A	57157386	G	A	57157386	5	1	23	1	0	0	0	0	0	0	1	0	3821	1159	40	1	962	1	CPNE2	16	57157386	Splice_Site	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	82820	57157386	33197367	52	2874											
TAF1C	9013	broad.mit.edu	37	chr16	84215436	84215436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaccaaacttccacacgGcacagtggtagtcagagcgg	11	11	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:84215436G>A	ENST00000567759.1	-	8	1132	c.950C>T	c.(949-951)gCc>gTc	p.A317V	TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	317					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTCCACACGGCACAGTGGTA	0.597																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(949-951)gCc>gTc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							85	81	82					16																	84215436		2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215436G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.950C>T	16.37:g.84215436G>A	ENSP00000455265:p.Ala317Val					TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V	p.A317V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			8	1132	-			317					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.950C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201947	0.79127	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.64803	1.65;-0.12;-0.12	4.47	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);	0.225081	0.28493	N	0.015148	T	0.69006	0.3063	M	0.62723	1.935	0.35910	D	0.831011	D;D;D;D	0.61080	0.989;0.964;0.961;0.964	P;P;P;P	0.58928	0.848;0.772;0.756;0.772	T	0.72704	-0.4213	10	0.30078	T	0.28	-16.206	10.3095	0.43699	0.0:0.1998:0.8002:0.0	.	291;291;317;224	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	317;224;224;291	ENSP00000367802:A317V;ENSP00000437900:A224V;ENSP00000345305:A224V	ENSP00000345305:A224V	A	-	2	0	TAF1C	82772937	0.995000	0.38212	1.000000	0.80357	0.929000	0.56500	1.645000	0.37238	1.086000	0.41228	0.561000	0.74099	GCC		0.597	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		5	339	0	0	0	1	0	5	339					A	84215436	G	A	84215436	3	1	23	1	0	0	0	0	1	0	0	0	15573	1203	42	2	1687	2	TAF1C	16	84215436	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	27058050	84215436	6139317	53	2875											
FOXC2	2303	broad.mit.edu	37	chr16	86602198	86602198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggggccgccgcggcGcaggcggcctcctggtatct	16	17	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1255-1257)gcG>gcA		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							7	9	8					16																	86602198		2059	4069	6128	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602198G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1257G>A	16.37:g.86602198G>A							p.A419A	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1342	+			419			Ala/Pro-rich.|Poly-Ala.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1257G>A	CCDS10958.1																																																																																				0.756	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		9	52	0	0	0	1	0	9	52					A	86602198	G	A	86602198	2	1	23	1	0	0	0	0	0	0	0	1	6020	1074	38	1		1	FOXC2	16	86602198	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	2386762	86602198	3752555	54	2876											
GSG2	83903	broad.mit.edu	37	chr17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgacttagagcaaatgCgaaccaagttgtcttccttg	10	8	1	2	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGAGCAAATGCGAACCAAGTT	0.493																																						ENST00000325418.4																			0											c.(1846-1848)Cga>Tga		germ cell associated 2 (haspin)							104	101	102					17																	3629075		2203	4300	6503	SO:0001587	stop_gained	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629075C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1846C>T	17.37:g.3629075C>T	ENSP00000325290:p.Arg616*					ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.R616*	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1865	+			616			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Nonsense_Mutation	SNP	ENST00000325418.4	37	c.1846C>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389675	0.61956	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	2.4	0.29515	.	0.312616	0.27956	N	0.017167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.8234	10.2856	0.43564	0.6793:0.3207:0.0:0.0	.	.	.	.	X	616	.	ENSP00000325290:R616X	R	+	1	2	GSG2	3575824	0.759000	0.28416	0.406000	0.26421	0.044000	0.14063	1.353000	0.34045	0.349000	0.23975	-0.259000	0.10710	CGA		0.493	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		63	423	0	0	0	1	0	63	423					T	3629075	C	T	3629075	4	4	23	1	0	0	0	0	0	1	0	0	6852	760	27	1	1848	1	GSG2	17	3629075	Nonsense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		3629075	77566135	55	2877											
SPNS2	124976	broad.mit.edu	37	chr17	4436651	4436651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacccactggtgtgtgCcgtgggcatgctgggctctg	17	12	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4436651C>T	ENST00000329078.3	+	8	1412	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	401					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGTGTGTGCCGTGGGCATG	0.642																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1201-1203)gCc>gTc		spinster homolog 2 (Drosophila)							43	43	43					17																	4436651		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436651C>T	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1202C>T	17.37:g.4436651C>T	ENSP00000333292:p.Ala401Val						p.A401V	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			8	1412	+			401					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1202C>T	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	c	35	5.572813	0.96553	.	.	ENSG00000183018	ENST00000329078	T	0.58652	0.32	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81536	-0.0888	10	0.87932	D	0	.	16.2505	0.82481	0.0:1.0:0.0:0.0	.	401	Q8IVW8	SPNS2_HUMAN	V	401	ENSP00000333292:A401V	ENSP00000333292:A401V	A	+	2	0	SPNS2	4383400	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	7.815000	0.86186	2.161000	0.67846	0.486000	0.48141	GCC		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			4	181	0	0	0	1	0	4	181					T	4436651	C	T	4436651	3	4	23	1	0	0	0	0	1	0	0	0	15127	739	26	2	1232	2	SPNS2	17	4436651	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	807576	4436651	76758559	56	2878											
SPNS2	124976	broad.mit.edu	37	chr17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtcgtggtcctgggcgGcatgttcttcctcgccactg	12	13	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	516					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCGGCATGTTCTTC	0.667																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1546-1548)gGc>gAc		spinster homolog 2 (Drosophila)							99	82	87					17																	4439661		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4439661G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1547G>A	17.37:g.4439661G>A	ENSP00000333292:p.Gly516Asp						p.G516D	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			11	1757	+			516					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1547G>A	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027900	0.93518	.	.	ENSG00000183018	ENST00000329078	T	0.60040	0.22	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.84846	2.72	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.82255	-0.0548	10	0.87932	D	0	.	16.6284	0.84993	0.0:0.0:1.0:0.0	.	516	Q8IVW8	SPNS2_HUMAN	D	516	ENSP00000333292:G516D	ENSP00000333292:G516D	G	+	2	0	SPNS2	4386410	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.685000	0.84117	2.504000	0.84457	0.563000	0.77884	GGC		0.667	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			7	335	0	0	0	1	0	7	335					A	4439661	G	A	4439661	3	1	23	1	0	0	0	0	1	0	0	0	15127	1203	42	2	1589	2	SPNS2	17	4439661	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3010	4439661	76755549	57	2879											
KCNH4	23415	broad.mit.edu	37	chr17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcagcccctgctcgctgCcccgaacaacggcagctgca	11	18	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	559					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCGCTGCCCCGAACAAC	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1675-1677)Gca>Tca		potassium voltage-gated channel, subfamily H (eag-related), member 4							43	37	39					17																	40318480		2203	4299	6502	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318480C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1675G>T	17.37:g.40318480C>A	ENSP00000264661:p.Ala559Ser					KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2007	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	559						Missense_Mutation	SNP	ENST00000264661.3	37	c.1675G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202261	0.22121	.	.	ENSG00000089558	ENST00000264661	D	0.96459	-4.02	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.39341	N	0.001385	D	0.85340	0.5674	N	0.03000	-0.44	0.39245	D	0.963924	B	0.14438	0.01	B	0.20184	0.028	T	0.79408	-0.1816	10	0.07325	T	0.83	.	4.9932	0.14226	0.0:0.7295:0.0:0.2705	.	559	Q9UQ05	KCNH4_HUMAN	S	559	ENSP00000264661:A559S	ENSP00000264661:A559S	A	-	1	0	KCNH4	37572006	0.174000	0.23070	0.998000	0.56505	0.556000	0.35491	0.088000	0.14979	2.182000	0.69389	0.563000	0.77884	GCA		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		78	166	1	0	8.16569e-41	1	9.10134e-41	78	166					A	40318480	C	A	40318480	3	1	23	1	0	0	0	0	1	0	0	0	8064	739	26	3	1406	3	KCNH4	17	40318480	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	35878819	40318480	40876730	58	2880											
CCDC43	124808	broad.mit.edu	37	chr17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatacgtttgtcagaaCcaatgttcattgtggtagca	11	6	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000315286.8	-	4	484	c.476G>A	c.(475-477)gGt>gAt	p.G159D	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D|CCDC43_ENST00000457422.2_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	159										lung(2)	2		Prostate(33;0.0322)				TTTGTCAGAACCAATGTTCAT	0.433																																						ENST00000315286.8																			0				lung(2)	2						c.(475-477)gGt>gAt		coiled-coil domain containing 43							193	190	191					17																	42757964		1950	4161	6111	SO:0001583	missense	124808							g.chr17:42757964C>T	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.476G>A	17.37:g.42757964C>T	ENSP00000323782:p.Gly159Asp					C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D	p.G159D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			4	484	-		Prostate(33;0.0322)	159					C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	c.476G>A	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418900	0.62622	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.06	6.06	0.98353	.	0.509221	0.21926	N	0.067089	T	0.57080	0.2029	L	0.41710	1.295	0.39483	D	0.967924	B	0.18610	0.029	B	0.13407	0.009	T	0.51325	-0.8720	9	0.42905	T	0.14	-9.135	18.4128	0.90558	0.0:1.0:0.0:0.0	.	159	Q96MW1	CCD43_HUMAN	D	159	.	ENSP00000323782:G159D	G	-	2	0	CCDC43	40113490	0.314000	0.24563	0.994000	0.49952	0.936000	0.57629	1.807000	0.38902	2.880000	0.98712	0.650000	0.86243	GGT		0.433	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		6	519	0	0	0	1	0	6	519					T	42757964	C	T	42757964	3	4	23	1	0	0	0	0	1	0	0	0	2822	507	18	2	206	2	CCDC43	17	42757964	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	2439484	42757964	38437246	59	2881											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	500						8	500	---	---	---	---	-	62291440	TCC	-	62291438	7	5	23	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-3A-A9I5-01A-11D-A38G-08	19533474	62291438	18903772	60	2882											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			10	755						10	755	---	---	---	---	-	55992286	TCC	-	55992284	7	5	23	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-3A-A9I5-01A-11D-A38G-08		55992284	22084964	61	2883											
ZNF181	339318	broad.mit.edu	37	chr19	35232753	35232753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccttaTgaatgtattaaatgtgggaa	10	4	0	2	rs201356205	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:35232753T>C	ENST00000492450.1	+	4	1556	c.1467T>C	c.(1465-1467)taT>taC	p.Y489Y	ZNF181_ENST00000459757.2_Silent_p.Y488Y|ZNF181_ENST00000392232.3_Silent_p.Y533Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													t|||	10	0.00199681	0.0	0.0	5008	,	,		21281	0.005		0.0	False		,,,				2504	0.0051					ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1597-1599)taT>taC		zinc finger protein 181							54	57	56					19																	35232753		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232753T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1467T>C	19.37:g.35232753T>C						ZNF181_ENST00000459757.1_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y	p.Y533Y			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1767	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		489					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1599T>C	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	285	0	0	0	1	0	7	285					C	35232753	T	C	35232753	2	2	23	1	0	0	0	0	0	0	0	1	17802	1471	51	4		4	ZNF181	19	35232753	Silent	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08		35232753	23896230	62	2884											
RYR1	6261	broad.mit.edu	37	chr19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccctgggcaacaatcgcGtggcgcacgctctgtgcagc	14	15	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000359596.3	+	34	5038	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1680M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1680	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)			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)	CAACAATCGCGTGGCGCACGC	0.672																																						ENST00000355481.4																			0				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						c.(5038-5040)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						47	46	47					19																	38976333		2203	4298	6501	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.chr19:38976333G>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.5038G>A	19.37:g.38976333G>A	ENSP00000352608:p.Val1680Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1680M	p.V1680M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5169	+	all_cancers(60;7.91e-06)		1680			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5038G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731538	0.69189	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98150	-4.75;-4.75;-4.75	4.07	4.07	0.47477	.	0.190439	0.31872	U	0.006936	D	0.98642	0.9545	M	0.83603	2.65	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99758	1.1020	10	0.87932	D	0	.	16.0625	0.80847	0.0:0.0:1.0:0.0	.	1680;1680	P21817-2;P21817	.;RYR1_HUMAN	M	1680	ENSP00000352608:V1680M;ENSP00000347667:V1680M;ENSP00000354254:V1680M	ENSP00000347667:V1680M	V	+	1	0	RYR1	43668173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.556000	0.98127	2.096000	0.63516	0.650000	0.86243	GTG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			58	247	0	0	0	1	0	58	247					A	38976333	G	A	38976333	3	1	23	1	0	0	0	0	1	0	0	0	13818	1145	40	1	5172	1	RYR1	19	38976333	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3743580	38976333	20152650	63	2885											
RYR1	6261	broad.mit.edu	37	chr19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccttccgccctgcccGccggcgcccccccaccctgc	7	28	0	0	rs544339193		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000359596.3	+	66	9892	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000355481.4_Missense_Mutation_p.A3298T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3298					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)			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)	CGCCCTGCCCGCCGGCGCCCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		11651	0.0		0.0	False		,,,				2504	0.001					ENST00000355481.4																			0				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						c.(9892-9894)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						30	28	29					19																	39008205		2201	4299	6500	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.chr19:39008205G>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.9892G>A	19.37:g.39008205G>A	ENSP00000352608:p.Ala3298Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000359596.3_Missense_Mutation_p.A3298T	p.A3298T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	10023	+	all_cancers(60;7.91e-06)		3298					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9892G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083940	0.08583	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96554	-4.05;-4.05;-4.05	3.6	2.39	0.29439	.	0.186063	0.32868	U	0.005550	D	0.92107	0.7498	L	0.51422	1.61	0.24955	N	0.991763	P;B;B	0.36660	0.564;0.411;0.147	B;B;B	0.27262	0.078;0.054;0.007	D	0.84408	0.0564	10	0.22109	T	0.4	.	13.1533	0.59503	0.0:0.2423:0.7577:0.0	.	3298;3298;3298	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	3298;3298;3298;218	ENSP00000352608:A3298T;ENSP00000347667:A3298T;ENSP00000354254:A3298T	ENSP00000347667:A3298T	A	+	1	0	RYR1	43700045	0.680000	0.27605	0.892000	0.35008	0.030000	0.12068	2.996000	0.49449	1.567000	0.49668	0.205000	0.17691	GCC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	127	0	0	0	1	0	4	127					A	39008205	G	A	39008205	3	1	23	1	0	0	0	0	1	0	0	0	13818	1087	38	1	10154	1	RYR1	19	39008205	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	31872	39008205	20120778	64	2886											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1039	0	0	0	1	0	8	1039					A	40395919	G	A	40395919	3	1	23	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	1387714	40395919	18733064	65	2887											
MEGF8	1954	broad.mit.edu	37	chr19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctaggacactgccagcCgcttcctgcaccgcctgggc	10	19	0	0	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000251268.6	+	26	4516	c.4516C>T	c.(4516-4518)Cgc>Tgc	p.R1506C	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1439C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1506					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCCGCTTCCTGCA	0.652																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4315-4317)Cgc>Tgc		multiple EGF-like-domains 8		C	CYS/ARG	2,4404	2.1+/-5.4	0,2,2201	42	36	38		4315	5	1	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	180	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	1439/2779	42860499	3,13003	2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42860499C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4516C>T	19.37:g.42860499C>T	ENSP00000251268:p.Arg1506Cys					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1506C	p.R1439C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			25	4950	+		Prostate(69;0.00682)	1506			EGF-like 4.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4315C>T		.	.	.	.	.	.	.	.	.	.	C	19.14	3.770638	0.69992	4.54E-4	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.64402	D	0.000002	T	0.76535	0.4001	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.967	T	0.79037	-0.1967	10	0.72032	D	0.01	-31.8929	17.1145	0.86685	0.0:1.0:0.0:0.0	.	1506;1439	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	C	1439;1506	ENSP00000334219:R1439C;ENSP00000251268:R1506C	ENSP00000251268:R1506C	R	+	1	0	MEGF8	47552339	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.395000	0.59678	2.345000	0.79718	0.557000	0.71058	CGC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		15	84	0	0	0	1	0	15	84					T	42860499	C	T	42860499	3	4	23	1	0	0	0	0	1	0	0	0	9504	652	23	1	4413	1	MEGF8	19	42860499	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	2464580	42860499	16268484	66	2888											
ZNF45	7596	broad.mit.edu	37	chr19	44417694	44417695	+	Frame_Shift_Del	DEL	TT	TT	-													tttttctccggtgtgaactcTttgatgggcttgaaggtatg					rs577243801		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:44417694_44417695delTT	ENST00000269973.5	-	10	2983_2984	c.1893_1894delAA	c.(1891-1896)caaagafs	p.R632fs	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Frame_Shift_Del_p.R632fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	632					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTGAACTCTTTGATGGGCTT	0.485																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1891-1896)cagafs		zinc finger protein 45																																				SO:0001589	frameshift_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417694_44417695delTT	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1893_1894delAA	19.37:g.44417694_44417695delTT	ENSP00000269973:p.Arg632fs					ZNF45_ENST00000589703.1_Frame_Shift_Del_p.QR631fs|RP11-15A1.2_ENST00000586247.1_RNA	p.QR631fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2983_2984	-			631					P17016|P78472|Q9P1U9	Frame_Shift_Del	DEL	ENST00000269973.5	37	c.1893_1894delAA	CCDS12632.1																																																																																				0.485	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		112	559						112	559	---	---	---	---	-	44417695	TT	-	44417694	7	5	23	1	0	1	0	1	0	0	0	0	17974	1617	56	0	158	0	ZNF45	19	44417694	Frame_Shift_Del	DEL	TT	TCGA-3A-A9I5-01A-11D-A38G-08	1557195	44417694	14711289	67	2889											
PRR12	57479	broad.mit.edu	37	chr19	50101153	50101153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaccactgcggggccCgcctcggcctccacgcccac	11	22	0	0	rs561427502		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:50101153C>T	ENST00000418929.2	+	4	3573	c.3561C>T	c.(3559-3561)ccC>ccT	p.P1187P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCGGGGCCCGCCTCGGCCT	0.766																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(3559-3561)ccC>ccT		proline rich 12							2	2	2					19																	50101153		991	2594	3585	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50101153C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3561C>T	19.37:g.50101153C>T							p.P1187P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	3573	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	366					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.3561C>T	CCDS46143.1																																																																																				0.766	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	13	0	0	0	1	0	3	13					T	50101153	C	T	50101153	2	4	23	1	0	0	0	0	0	0	0	1	12631	639	23	1		1	PRR12	19	50101153	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	5683459	50101153	9027830	68	2890											
KLK15	55554	broad.mit.edu	37	chr19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccgggtgggggcaacGcgtgggtagcaccgcggggc	19	14	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000598239.1	-	3	418	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	KLK15_ENST00000326856.4_Missense_Mutation_p.R129C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C|KLK15_ENST00000596931.1_Missense_Mutation_p.R129C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGGGGGCAACGCGTGGGTAGC	0.711																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(385-387)Cgt>Tgt		kallikrein-related peptidase 15							31	33	33					19																	51330227		2201	4297	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330227G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.388C>T	19.37:g.51330227G>A	ENSP00000469315:p.Arg130Cys					KLK15_ENST00000596931.1_Missense_Mutation_p.R129C|KLK15_ENST00000598239.1_Missense_Mutation_p.R130C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C	p.R129C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	514	-		all_neural(266;0.057)	130			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.385C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.699087	0.48307	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88975	-2.45	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444898	0.19247	N	0.119028	D	0.91945	0.7449	M	0.64997	1.995	0.09310	N	0.999999	D;P;D	0.89917	1.0;0.732;0.999	P;B;D	0.64877	0.892;0.167;0.93	D	0.84679	0.0716	10	0.72032	D	0.01	.	10.6517	0.45653	0.0:0.1948:0.8052:0.0	.	130;129;130	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	130	ENSP00000301421:R130C	ENSP00000301421:R130C	R	-	1	0	KLK15	56022039	0.000000	0.05858	0.063000	0.19743	0.016000	0.09150	-0.260000	0.08708	2.454000	0.82982	0.555000	0.69702	CGT		0.711	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		45	198	0	0	0	1	0	45	198					A	51330227	G	A	51330227	3	1	23	1	0	0	0	0	1	0	0	0	8433	1087	38	1	394	1	KLK15	19	51330227	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	1229074	51330227	7798756	69	2891											
ZNF274	10782	broad.mit.edu	37	chr19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaggccctatatgctgaaGatggaagcctgagtgcagat	12	9	0	4			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000326804.4	+	5	862	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	135					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)			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)		ATATGCTGAAGATGGAAGCCT	0.597																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(403-405)Gat>Tat		zinc finger protein 274							35	40	38					19																	58718233		2073	4209	6282	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.chr19:58718233G>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.403G>T	19.37:g.58718233G>T	ENSP00000321209:p.Asp135Tyr					ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y	p.D135Y	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	5	862	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	135					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.403G>T		.	.	.	.	.	.	.	.	.	.	G	9.784	1.176193	0.21704	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08193	3.19;3.12;3.16	3.45	-1.9	0.07665	.	1.323810	0.05424	N	0.544714	T	0.18635	0.0447	L	0.51422	1.61	0.09310	N	1	D;D;P	0.76494	0.987;0.999;0.94	P;D;P	0.63703	0.663;0.917;0.462	T	0.30995	-0.9959	10	0.87932	D	0	-0.3588	6.8146	0.23822	0.5997:0.0:0.4003:0.0	.	30;103;135	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	Y	135;103;30	ENSP00000321209:D135Y;ENSP00000321187:D103Y;ENSP00000409872:D30Y	ENSP00000321209:D135Y	D	+	1	0	ZNF274	63410045	0.076000	0.21285	0.001000	0.08648	0.215000	0.24574	0.215000	0.17562	-0.267000	0.09325	0.462000	0.41574	GAT		0.597	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		22	91	1	0	5.35356e-11	1	5.78617e-11	22	91					T	58718233	G	T	58718233	3	4	23	1	0	0	0	0	1	0	0	0	17862	942	33	3	417	3	ZNF274	19	58718233	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	7388006	58718233	410750	70	2892											
SIRPB1	10326	broad.mit.edu	37	chr20	1558985	1558985	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccacgctgtactcaccGcgcacagacagctcagtgcc	10	17	2	1	rs200840558	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:1558985G>A	ENST00000381605.4	-	2	496	c.432C>T	c.(430-432)cgC>cgT	p.R144R	SIRPB1_ENST00000262929.5_Splice_Site_p.R143R|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144R|SIRPB1_ENST00000381603.3_Splice_Site_p.R144R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTACTCACCGCGCACAGACA	0.552													A|||	3	0.000599042	0.0015	0.0	5008	,	,		18196	0.0		0.001	False		,,,				2504	0.0					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		signal-regulatory protein beta 1							118	105	110					20																	1558985		2196	4235	6431	SO:0001630	splice_region_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1558985G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.433+1C>T	20.37:g.1558985G>A						SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice|SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice	p.R144_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	496	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Splice_Site	SNP	ENST00000381605.4	37	c.433_splice	CCDS13019.1																																																																																				0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	Silent	7	511	0	0	0	1	0	7	511					A	1558985	G	A	1558985	5	1	23	1	0	0	0	0	0	0	1	0	14383	1101	38	1	780	1	SIRPB1	20	1558985	Splice_Site	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		1558985	61466535	71	2893											
TSHZ2	128553	broad.mit.edu	37	chr20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccagcgtgtccaggCgctacctgtttgagaacagc	13	12	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2263-2265)Cgc>Tgc		teashirt zinc finger homeobox 2							93	90	91					20																	51872260		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872260C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2263C>T	20.37:g.51872260C>T	ENSP00000360552:p.Arg755Cys					TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	p.R755C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3150	+			755					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2263C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992826	0.35131	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50277	0.75;0.75	5.23	5.23	0.72850	.	0.475787	0.23196	N	0.050846	T	0.43144	0.1234	M	0.68317	2.08	0.34997	D	0.755567	P	0.49358	0.923	B	0.34452	0.183	T	0.65709	-0.6102	10	0.87932	D	0	-5.9641	13.7395	0.62838	0.1538:0.8461:0.0:0.0	.	755	Q9NRE2	TSH2_HUMAN	C	755;752;281	ENSP00000360552:R755C;ENSP00000333114:R752C	ENSP00000333114:R752C	R	+	1	0	TSHZ2	51305667	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.499000	0.53310	2.438000	0.82558	0.579000	0.79373	CGC		0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		59	286	0	0	0	1	0	59	286					T	51872260	C	T	51872260	3	4	23	1	0	0	0	0	1	0	0	0	16677	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	50313275	51872260	11153260	72	2894											
CACNA1I	8911	broad.mit.edu	37	chr22	40075258	40075258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcatgaagcacctggaCgacagcaacaaggaggcgca	13	11	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:40075258C>T	ENST00000402142.3	+	32	5202	c.5202C>T	c.(5200-5202)gaC>gaT	p.D1734D	CACNA1I_ENST00000336649.4_Silent_p.D1740D|CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000400164.3_Silent_p.D1699D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1734					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCTGGACGACAGCAACA	0.642																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5218-5220)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						27	31	30					22																	40075258		2168	4250	6418	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40075258C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5202C>T	22.37:g.40075258C>T						CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000402142.3_Silent_p.D1734D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000400164.3_Silent_p.D1699D	p.D1740D			Q9P0X4	CAC1I_HUMAN			35	5220	+	Melanoma(58;0.0749)		1734					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.5220C>T	CCDS46710.1																																																																																				0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		9	39	0	0	0	1	0	9	39					T	40075258	C	T	40075258	2	4	23	1	0	0	0	0	0	0	0	1	2553	535	19	1		1	CACNA1I	22	40075258	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		40075258	11229308	73	2895											
SCUBE1	80274	broad.mit.edu	37	chr22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtagaggatgtagccgCggtgacacaggcactggaag	15	10	0	2	rs201101225		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	350	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17295	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1048-1050)cGc>cAc		signal peptide, CUB domain, EGF-like 1							85	59	68					22																	43625113		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43625113C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1049G>A	22.37:g.43625113C>T	ENSP00000354080:p.Arg350His		OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917		p.R350H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			9	1175	-		all_neural(38;0.0414)|Ovarian(80;0.07)	350			EGF-like 8; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1049G>A	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		29	107	0	0	0	1	0	29	107					T	43625113	C	T	43625113	3	4	23	1	0	0	0	0	1	0	0	0	13994	768	27	1	1973	1	SCUBE1	22	43625113	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	3549855	43625113	7679453	74	2896											
ARSA	410	broad.mit.edu	37	chr22	51064677	51064677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcaagagaccggagcagCcgcctcgggacatacgcatg	13	14	0	1	rs199476387		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:51064677C>T	ENST00000547307.1	-	5	1283	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D			P15289	ARSA_HUMAN	arylsulfatase A	293			G -> D (in MLD; late-onset; dbSNP:rs199476387). {ECO:0000269|PubMed:15026521}.|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity; dbSNP:rs199476349). {ECO:0000269|PubMed:15326627}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	ACCGGAGCAGCCGCCTCGGGA	0.652																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CM044574	ARSA	M		c.(877-879)gGc>gAc		arylsulfatase A	Micafungin(DB01141)						50	46	47					22																	51064677		2203	4300	6503	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51064677C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.878G>A	22.37:g.51064677C>T	ENSP00000448440:p.Gly293Asp					ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D	p.G293D			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1283	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	293		G -> D (in MLD; late-onset).|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.878G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.206728	0.95033	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.21	5.21	0.72293	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.096084	0.64402	D	0.000001	D	0.97480	0.9175	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98251	1.0493	10	0.87932	D	0	.	16.2653	0.82574	0.0:1.0:0.0:0.0	.	293	P15289	ARSA_HUMAN	D	295;295;293;293;295;209;295	ENSP00000348406:G295D;ENSP00000216124:G295D;ENSP00000448440:G293D;ENSP00000448932:G293D;ENSP00000378983:G295D;ENSP00000412542:G209D;ENSP00000378981:G295D	ENSP00000216124:G295D	G	-	2	0	ARSA	49411543	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.842000	0.69417	2.435000	0.82474	0.609000	0.83330	GGC		0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		3	51	0	0	0	1	0	3	51					T	51064677	C	T	51064677	3	4	23	1	0	0	0	0	1	0	0	0	988	739	26	2	661	2	ARSA	22	51064677	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	7439564	51064677	239889	75	2897											
DMD	1756	broad.mit.edu	37	chrX	32867854	32867854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacataccagtttttgCcctgtcaggccttcgaggag	10	11	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G|snoU13_ENST00000459244.1_RNA	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.		Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGTTTTTGCCCTGTCAGGC	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(175-177)ggG>ggA		dystrophin							74	69	71					X																	32867854		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32867854C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.177G>A	X.37:g.32867854C>T						DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G	p.G59G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			3	383	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	59		Missing (in BMD).	Actin-binding.|CH 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.177G>A	CCDS14233.1																																																																																				0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	158	0	0	0	1	0	4	158					T	32867854	C	T	32867854	2	4	23	1	0	0	0	0	0	0	0	1	4596	726	26	2		2	DMD	23	32867854	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		32867854	122402706	76	2898											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	400						7	400	---	---	---	---	-	110406208	GAA	-	110406206	7	5	23	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-3A-A9I5-01A-11D-A38G-08	77538352	110406206	44864354	77	2899											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144	130	135					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		9	735						9	735	---	---	---	---	-	109477407	T	-	109477407	7	5	24	1	0	1	0	1	0	0	0	0	3469	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08		109477407	139773214	1	2900											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		13	544						13	544	---	---	---	---	T	110300580	-	T	110300579	7	5	24	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08	823172	110300579	138950042	2	2901											
GATAD2B	57459	broad.mit.edu	37	chr1	153785793	153785793	+	Frame_Shift_Del	DEL	T	T	-													tgtgttcagcttttagagccTttttctggttggaggtcata							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:153785793delT	ENST00000368655.4	-	8	1595	c.1352delA	c.(1351-1353)aagfs	p.K451fs		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	451	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTTAGAGCCTTTTTCTGGTT	0.468																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1351-1353)agfs		GATA zinc finger domain containing 2B							215	186	196					1																	153785793		2203	4300	6503	SO:0001589	frameshift_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153785793delT	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1352delA	1.37:g.153785793delT	ENSP00000357644:p.Lys451fs						p.K451fs	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1595	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		451			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Frame_Shift_Del	DEL	ENST00000368655.4	37	c.1352delA	CCDS1054.1																																																																																				0.468	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		8	829						8	829	---	---	---	---	-	153785793	T	-	153785793	7	5	24	1	0	1	0	1	0	0	0	0	6289	1609	56	0	445	0	GATAD2B	1	153785793	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	43485214	153785793	95464828	3	2902											
ANKRD36B	57730	broad.mit.edu	37	chr2	98177318	98177318	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctcgttgtttctgagGagacactgaaaagcaaaagg	11	8	2	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:98177318G>A	ENST00000443455.1	-	0	879							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGTTTCTGAGGAGACACTGAA	0.299																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							25	21	22					2																	98177318		1025	2177	3202			57730							g.chr2:98177318G>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177318G>A										Q8N2N9	AN36B_HUMAN			0	879	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.299	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		4	80	0	0	0	1	0	4	80					A	98177318	G	A	98177318	1	1	24	0	1	0	0	0	0	0	0	0	666	1174	41	2		2	ANKRD36B	2	98177318	RNA	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		98177318	145022055	4	2903											
ATG9A	79065	broad.mit.edu	37	chr2	220088423	220088423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctccagggcccgtgggcGcaggcagaagatgaggatga	16	9	1	4			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:220088423G>A	ENST00000409618.1	-	10	1922	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ATG9A_ENST00000396761.2_Missense_Mutation_p.R495C|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.R495C|ATG9A_ENST00000409422.1_Missense_Mutation_p.R434C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	495					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCGTGGGCGCAGGCAGAAG	0.547																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1483-1485)Cgc>Tgc		autophagy related 9A							61	70	67					2																	220088423		2017	4178	6195	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088423G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1483C>T	2.37:g.220088423G>A	ENSP00000386710:p.Arg495Cys					ATG9A_ENST00000396761.2_Missense_Mutation_p.R495C|ATG9A_ENST00000361242.4_Missense_Mutation_p.R495C|ATG9A_ENST00000409422.1_Missense_Mutation_p.R434C	p.R495C			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1922	-		Renal(207;0.0474)	495					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.1483C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524608	0.44969	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.35789	1.78;1.78;1.78;1.36;1.29	5.78	5.78	0.91487	.	0.097761	0.64402	D	0.000002	T	0.60625	0.2283	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59461	-0.7450	10	0.46703	T	0.11	-13.2095	15.6059	0.76672	0.0:0.0:0.8619:0.1381	.	495	Q7Z3C6	ATG9A_HUMAN	C	495;495;495;434;54	ENSP00000379983:R495C;ENSP00000386710:R495C;ENSP00000355173:R495C;ENSP00000386535:R434C;ENSP00000400234:R54C	ENSP00000355173:R495C	R	-	1	0	ATG9A	219796667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.119000	0.64679	2.729000	0.93468	0.650000	0.86243	CGC		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	242	0	0	0	1	0	4	242					A	220088423	G	A	220088423	3	1	24	1	0	0	0	0	1	0	0	0	1103	1087	38	1	1064	1	ATG9A	2	220088423	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	121911105	220088423	23110950	5	2904											
HDLBP	3069	broad.mit.edu	37	chr2	242189325	242189325	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgggtccccctcgatgcgGatcaaattgctcttctcact	9	13	3	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:242189325G>A	ENST00000391975.1	-	12	1670	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	481	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCGATGCGGATCAAATTGC	0.537																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1441-1443)atC>atT		high density lipoprotein binding protein							204	156	173					2																	242189325		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189325G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1443C>T	2.37:g.242189325G>A						HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I	p.I481I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1670	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	481			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1443C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524353	0.27299	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.76	1.91	0.25777	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-25.3058	8.197	0.31402	0.1831:0.1146:0.7023:0.0	.	.	.	.	S	290	.	.	P	-	1	0	HDLBP	241837998	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	3.394000	0.52551	0.140000	0.18849	-0.136000	0.14681	CCG		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		30	503	0	0	0	1	0	30	503					A	242189325	G	A	242189325	2	1	24	1	0	0	0	0	0	0	0	1	7055	1164	41	2		2	HDLBP	2	242189325	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	22100902	242189325	1010048	6	2905											
TATDN2	9797	broad.mit.edu	37	chr3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-													ttctagctacccctccacagGcagcagcagcaacgatgcag							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:10312062_10312064delGCA	ENST00000287652.4	+	4	2247_2249	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.S402del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1195-1200)ggc>g		TatD DNase domain containing 2																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312062_10312064delGCA	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1196_1198delGCA	3.37:g.10312071_10312073delGCA	ENSP00000287652:p.Ser402del					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.GS399del	p.GS399del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2247_2249	+			399					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.1196_1198delGCA	CCDS33698.1																																																																																				0.552	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	683						7	683	---	---	---	---	-	10312064	GCA	-	10312062	7	5	24	1	0	1	0	1	0	0	0	0	15644	1203	42	0	1206	0	TATDN2	3	10312062	In_Frame_Del	DEL	GCA	TCGA-3A-A9I7-01A-21D-A38G-08		10312062	187710368	7	2906											
C3orf20	84077	broad.mit.edu	37	chr3	14813595	14813595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcccaactctgtcctgagCctggaggattctgaatcagt	10	11	3	2	rs199806806		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:14813595C>A	ENST00000253697.3	+	16	2969	c.2517C>A	c.(2515-2517)agC>agA	p.S839R	C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R|C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	839						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGTCCTGAGCCTGGAGGATT	0.572																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2515-2517)agC>agA		chromosome 3 open reading frame 20							94	87	89					3																	14813595		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14813595C>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2517C>A	3.37:g.14813595C>A	ENSP00000253697:p.Ser839Arg					C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R	p.S839R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			16	2969	+			839					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2517C>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445678	0.25987	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08546	3.37;3.08;3.08	2.95	2.95	0.34219	.	0.876695	0.09658	N	0.772847	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	1	P;P	0.39157	0.662;0.662	B;B	0.42422	0.387;0.387	T	0.32613	-0.9900	10	0.51188	T	0.08	-2.1017	9.6058	0.39632	0.0:1.0:0.0:0.0	.	717;839	Q8ND61-2;Q8ND61	.;CC020_HUMAN	R	839;717;717	ENSP00000253697:S839R;ENSP00000402933:S717R;ENSP00000396081:S717R	ENSP00000253697:S839R	S	+	3	2	C3orf20	14788599	0.012000	0.17670	0.029000	0.17559	0.038000	0.13279	1.422000	0.34826	1.957000	0.56846	0.491000	0.48974	AGC		0.572	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		5	197	1	0	1	1	1	5	197					A	14813595	C	A	14813595	3	1	24	1	0	0	0	0	1	0	0	0	2220	738	26	3	2571	3	C3orf20	3	14813595	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	4501533	14813595	183208835	8	2907											
OXSM	54995	broad.mit.edu	37	chr3	25832597	25832597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacagttaagaagtaaaaGgaagtttttcggaactgtgc	10	6	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:25832597G>T	ENST00000280701.3	+	2	185	c.86G>T	c.(85-87)aGg>aTg	p.R29M	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	29					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGTAAAAGGAAGTTTTTC	0.403																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(85-87)aGg>aTg		3-oxoacyl-ACP synthase, mitochondrial							130	128	129					3																	25832597		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832597G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.86G>T	3.37:g.25832597G>T	ENSP00000280701:p.Arg29Met					OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR	p.R29M	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	185	+			29						Missense_Mutation	SNP	ENST00000280701.3	37	c.86G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	2.156	-0.393253	0.04899	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	3.7	0.885	0.19188	.	1.235100	0.05357	N	0.533001	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;B	0.41848	0.763;0.327	B;B	0.43360	0.417;0.087	T	0.20505	-1.0273	9	0.72032	D	0.01	-0.3908	4.2462	0.10672	0.3102:0.1799:0.5099:0.0	.	29;29	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	M	29	.	ENSP00000280701:R29M	R	+	2	0	OXSM	25807601	0.003000	0.15002	0.002000	0.10522	0.296000	0.27459	0.424000	0.21330	0.548000	0.28955	0.561000	0.74099	AGG		0.403	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		19	688	1	0	1.01871e-10	1	1.06349e-10	19	688					T	25832597	G	T	25832597	3	4	24	1	0	0	0	0	1	0	0	0	11377	1000	35	3	88	3	OXSM	3	25832597	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	11019002	25832597	172189833	9	2908											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181	175	177					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	1139						7	1139	---	---	---	---	-	46306948	T	-	46306948	7	5	24	1	0	1	0	1	0	0	0	0	2951	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	20474351	46306948	151715482	10	2909											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		10	1250						10	1250	---	---	---	---	-	66436627	GCT	-	66436625	7	5	24	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-3A-A9I7-01A-21D-A38G-08	20129677	66436625	131585805	11	2910											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	359	0	0	0	1	0	5	359					A	129370592	T	A	129370592	3	1	24	1	0	0	0	0	1	0	0	0	16044	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	62933967	129370592	68651838	12	2911											
TLR1	7096	broad.mit.edu	37	chr4	38798148	38798148	+	Frame_Shift_Del	DEL	A	A	-													ggctgcccttaagttagcccAaaaaaggccacgtttgctct							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:38798148delA	ENST00000502213.2	-	3	2534	c.2305delT	c.(2305-2307)tggfs	p.W769fs	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Frame_Shift_Del_p.W769fs			Q15399	TLR1_HUMAN	toll-like receptor 1	769	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAGTTAGCCCAAAAAAGGCCA	0.418																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2305-2307)ggfs		toll-like receptor 1							85	80	82					4																	38798148		2203	4300	6503	SO:0001589	frameshift_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798148delA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2305delT	4.37:g.38798148delA	ENSP00000421259:p.Trp769fs					TLR1_ENST00000502213.2_Frame_Shift_Del_p.W769fs	p.W769fs	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2578	-			769			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	37	c.2305delT	CCDS33973.1																																																																																				0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			8	374						8	374	---	---	---	---	-	38798148	A	-	38798148	7	5	24	1	0	1	0	1	0	0	0	0	16001	130	5	0	59	0	TLR1	4	38798148	Frame_Shift_Del	DEL	A	TCGA-3A-A9I7-01A-21D-A38G-08		38798148	152356128	13	2912											
ANK2	287	broad.mit.edu	37	chr4	114280346	114280346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgccacctgttgagacCgagcactcagttcctgagga	10	12	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3524					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10570-10572)acC>acT		ankyrin 2, neuronal							111	111	111					4																	114280346		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280346C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10572C>T	4.37:g.114280346C>T						ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	p.T3524T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3491					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.10572C>T	CCDS3702.1																																																																																				0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	450	0	0	0	1	0	9	450					T	114280346	C	T	114280346	2	4	24	1	0	0	0	0	0	0	0	1	621	639	23	1		1	ANK2	4	114280346	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	75482198	114280346	76873930	14	2913											
TRPC3	7222	broad.mit.edu	37	chr4	122835976	122835976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagccaatggccaggaatgGaaggcccagggccacgacca	14	12	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:122835976G>T	ENST00000379645.3	-	4	1373	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000264811.5_Missense_Mutation_p.P361T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	349					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGAATGGAAGGCCCAGG	0.522																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1081-1083)Cca>Aca		transient receptor potential cation channel, subfamily C, member 3							116	88	97					4																	122835976		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122835976G>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1300C>A	4.37:g.122835976G>T	ENSP00000368966:p.Pro434Thr					TRPC3_ENST00000379645.3_Missense_Mutation_p.P434T|TRPC3_ENST00000513531.1_Intron	p.P361T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			3	1499	-			349					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1081C>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778659	0.90195	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.91432	0.7296	M	0.93638	3.44	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93272	0.6652	10	0.87932	D	0	-29.0106	19.3937	0.94596	0.0:0.0:1.0:0.0	.	349;434	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	361;434	ENSP00000264811:P361T;ENSP00000368966:P434T	ENSP00000264811:P361T	P	-	1	0	TRPC3	123055426	1.000000	0.71417	0.939000	0.37840	0.922000	0.55478	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCA		0.522	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		4	192	1	0	0.00024832	1	0.00025366	4	192					T	122835976	G	T	122835976	3	4	24	1	0	0	0	0	1	0	0	0	16632	1174	41	3	1501	3	TRPC3	4	122835976	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	8555630	122835976	68318300	15	2914											
DDX60	55601	broad.mit.edu	37	chr4	169206628	169206628	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggaataaaacccaaattgGgcaccatttcattggagctg	9	8	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:169206628G>C	ENST00000393743.3	-	11	1652	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	454					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCAAATTGGGCACCATTTC	0.318																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1360-1362)cCc>cGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							49	47	48					4																	169206628		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169206628G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1361C>G	4.37:g.169206628G>C	ENSP00000377344:p.Pro454Arg						p.P454R	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	11	1652	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	454					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1361C>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443929	0.25987	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	4.53	3.66	0.41972	.	0.430135	0.22084	N	0.064857	T	0.41534	0.1163	M	0.77820	2.39	0.19300	N	0.999977	D	0.71674	0.998	D	0.65684	0.937	T	0.19128	-1.0315	10	0.56958	D	0.05	.	8.3075	0.32051	0.0845:0.0:0.7589:0.1567	.	454	Q8IY21	DDX60_HUMAN	R	454	ENSP00000377344:P454R	ENSP00000377344:P454R	P	-	2	0	DDX60	169443203	0.330000	0.24705	0.051000	0.19133	0.249000	0.25844	2.143000	0.42187	0.972000	0.38314	0.557000	0.71058	CCC		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		13	378	0	0	0	1	0	13	378					C	169206628	G	C	169206628	3	2	24	1	0	0	0	0	1	0	0	0	4389	1232	43	5	3889	5	DDX60	4	169206628	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	46370652	169206628	21947648	16	2915											
FRG1	2483	broad.mit.edu	37	chr4	190874258	190874258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagagcagtttacgGctgtcaaattatctgattcc	8	11	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:190874258G>A	ENST00000226798.4	+	4	517	c.295G>A	c.(295-297)Gct>Act	p.A99T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	99					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCAGTTTACGGCTGTCAAATT	0.279																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(295-297)Gct>Act		FSHD region gene 1							12	12	12					4																	190874258		2087	4206	6293	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874258G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.295G>A	4.37:g.190874258G>A	ENSP00000226798:p.Ala99Thr					FRG1_ENST00000514482.1_3'UTR	p.A99T	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	517	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	99					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.295G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.192157	0.78902	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.49432	1.88;0.78	3.71	3.71	0.42584	Actin cross-linking (1);	0.150032	0.64402	D	0.000015	T	0.71022	0.3291	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.77281	-0.2646	10	0.62326	D	0.03	-10.7291	13.8593	0.63550	0.0:0.0:1.0:0.0	.	99	Q14331	FRG1_HUMAN	T	99;36	ENSP00000226798:A99T;ENSP00000435943:A36T	ENSP00000226798:A99T	A	+	1	0	FRG1	191111252	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.872000	0.92352	2.022000	0.59522	0.632000	0.83419	GCT		0.279	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	242	0	0	0	1	0	9	242					A	190874258	G	A	190874258	3	1	24	1	0	0	0	0	1	0	0	0	6073	1203	42	2	309	2	FRG1	4	190874258	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	21667630	190874258	280018	17	2916											
CDH18	1016	broad.mit.edu	37	chr5	19612555	19612555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgtactttgaggaaagcGtggtgggttgtcattgacat	13	5	1	2	rs375530344		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:19612555G>A	ENST00000507958.1	-	8	1789	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000511273.1_Missense_Mutation_p.R267C			Q13634	CAD18_HUMAN	cadherin 18, type 2	267	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)					TGAGGAAAGCGTGGTGGGTTG	0.378																																						ENST00000507958.1																			0				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						c.(799-801)Cgc>Tgc		cadherin 18, type 2							176	161	166					5																	19612555		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612555G>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.799C>T	5.37:g.19612555G>A	ENSP00000425093:p.Arg267Cys					CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C	p.R267C			Q13634	CAD18_HUMAN			8	1789	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		267			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.799C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252883	0.39797	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	0.216	0.15258	Cadherin (3);Cadherin-like (1);	0.101818	0.64402	D	0.000006	T	0.52597	0.1744	L	0.52573	1.65	0.22017	N	0.99941	D;P	0.76494	0.999;0.591	P;B	0.61275	0.886;0.109	T	0.55477	-0.8135	9	.	.	.	.	16.4031	0.83649	0.0:0.0:0.3577:0.6423	.	267;267	B4DHG6;Q13634	.;CAD18_HUMAN	C	267;267;267;267;267;267;213;267	ENSP00000371710:R267C;ENSP00000425093:R267C;ENSP00000274170:R267C;ENSP00000424931:R267C;ENSP00000422138:R267C;ENSP00000427383:R213C;ENSP00000425854:R267C	.	R	-	1	0	CDH18	19648312	0.325000	0.24660	0.889000	0.34880	0.102000	0.19082	1.230000	0.32612	0.088000	0.17205	0.563000	0.77884	CGC		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		10	328	0	0	0	1	0	10	328					A	19612555	G	A	19612555	3	1	24	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1605	1	CDH18	5	19612555	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		19612555	161302705	18	2917											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	927						10	927	---	---	---	---	-	79372776	TGA	-	79372774	7	5	24	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-3A-A9I7-01A-21D-A38G-08	59760219	79372774	101542486	19	2918											
CDO1	1036	broad.mit.edu	37	chr5	115148957	115148958	+	Splice_Site	INS	-	-	A													acaagatttcgggtatacctINSaaaaaaaaacaatatattca					rs571899483	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CGGGTATACCTAAAAAAAAACA	0.332													?|AAAAAAAAA|AAAAAAAAAA|unsure	5	0.000998403	0.0	0.0	5008	,	,		16421	0.002		0.0	False		,,,				2504	0.0031					ENST00000250535.4																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.e2-2		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)			7,4257		0,7,2125						5.8	1			77	13,8235		0,13,4111	no	splice-3	CDO1	NM_001801.2		0,20,6236	A1A1,A1R,RR		0.1576,0.1642,0.1598				20,12492				SO:0001630	splice_region_variant	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115148957_115148958insA		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"cysteine dioxygenase, type I"			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.171-2->T	5.37:g.115148966_115148966dupA						CDO1_ENST00000502631.1_Splice_Site		NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	2	727	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)						B2RAK4|P78513|Q6FHZ8|Q8TB64	Splice_Site	INS	ENST00000250535.4	37		CCDS4121.1																																																																																				0.332	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801	Intron	7	235						7	235	---	---	---	---	A	115148958	-	A	115148957	8	5	24	1	0	1	1	0	0	0	1	0	3178	1536	53	0	449	0	CDO1	5	115148957	Splice_Site	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08	35776183	115148957	65766303	20	2919											
SLC27A6	28965	broad.mit.edu	37	chr5	128326140	128326140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaactttgtcgctacCtttgcaaacaatctaaggta	8	8	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:128326140C>T	ENST00000262462.4	+	4	1962	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	318					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGTCGCTACCTTTGCAAACA	0.318																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(952-954)Ctt>Ttt		solute carrier family 27 (fatty acid transporter), member 6							95	91	92					5																	128326140		2202	4299	6501	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128326140C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.952C>T	5.37:g.128326140C>T	ENSP00000262462:p.Leu318Phe					SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F	p.L318F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1962	+		all_cancers(142;0.0483)|Prostate(80;0.055)	318					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.952C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001462	0.74818	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.98426	4.23	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.86944	0.2081	9	.	.	.	-0.0674	12.1173	0.53872	0.0:0.9204:0.0:0.0796	.	318	Q9Y2P4	S27A6_HUMAN	F	137;318;318;318	ENSP00000421759:L137F;ENSP00000262462:L318F;ENSP00000378684:L318F;ENSP00000421024:L318F	.	L	+	1	0	SLC27A6	128354039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.144000	0.42197	2.835000	0.97688	0.650000	0.86243	CTT		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		8	202	0	0	0	1	0	8	202					T	128326140	C	T	128326140	3	4	24	1	0	0	0	0	1	0	0	0	14580	681	24	2	966	2	SLC27A6	5	128326140	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	13177183	128326140	52589120	21	2920											
CDHR2	54825	broad.mit.edu	37	chr5	176003131	176003131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacgtggacgagcatgCctccccccgcatccccatcg	10	18	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:176003131C>T	ENST00000510636.1	+	12	1413	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACGAGCATGCCTCCCCCCGC	0.632																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1138-1140)gCc>gTc		cadherin-related family member 2							102	86	92					5																	176003131		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003131C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1139C>T	5.37:g.176003131C>T	ENSP00000424565:p.Ala380Val					CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1413	+			380			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1139C>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997877	0.19043	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.54	3.68	0.42216	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.49898	0.1584	L	0.56124	1.755	0.19945	N	0.999946	B	0.10296	0.003	B	0.10450	0.005	T	0.36335	-0.9752	9	0.18276	T	0.48	-16.43	10.4136	0.44307	0.0:0.9088:0.0:0.0912	.	380	Q9BYE9	CDHR2_HUMAN	V	380	ENSP00000424565:A380V;ENSP00000261944:A380V;ENSP00000421078:A380V	ENSP00000261944:A380V	A	+	2	0	CDHR2	175935737	0.673000	0.27539	0.192000	0.23308	0.160000	0.22226	1.965000	0.40471	1.136000	0.42199	0.549000	0.68633	GCC		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	296	0	0	0	1	0	5	296					T	176003131	C	T	176003131	3	4	24	1	0	0	0	0	1	0	0	0	3128	739	26	2	1181	2	CDHR2	5	176003131	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	47676991	176003131	4912129	22	2921											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-													tcggagtcttcttcactgccTttttcgcccctgcagccttc							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97	111	106					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		8	1430						8	1430	---	---	---	---	-	27834859	T	-	27834859	7	5	24	1	0	1	0	1	0	0	0	0	7153	1609	56	0	235	0	HIST1H1B	6	27834859	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08		27834859	143280208	23	2922											
RDBP	7936	broad.mit.edu	37	chr6	31923047	31923047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaacggctggaaagtGgggactggtcccttctcggg	16	10	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:31923047G>A	ENST00000375429.3	-	5	541	c.315C>T	c.(313-315)ccC>ccT	p.P105P	NELFE_ENST00000444811.2_Silent_p.P105P|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Silent_p.P112P	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	105					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCTGGAAAGTGGGGACTGGTC	0.557																																						ENST00000375429.3																			0											c.(313-315)ccC>ccT		negative elongation factor complex member E							128	121	123					6																	31923047		1511	2709	4220	SO:0001819	synonymous_variant	7936							g.chr6:31923047G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.315C>T	6.37:g.31923047G>A						NELFE_ENST00000375425.5_Silent_p.P112P|NELFE_ENST00000444811.2_Silent_p.P105P	p.P105P	NM_002904.5	NP_002895.3					5	541	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.315C>T	CCDS4730.1																																																																																				0.557	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			21	441	0	0	0	1	0	21	441					A	31923047	G	A	31923047	2	1	24	1	0	0	0	0	0	0	0	1	13238	1335	47	2		2	RDBP	6	31923047	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	4088188	31923047	139192020	24	2923											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906460	32906460	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacccctctctcctcaCgtgtcctgttggtcagtgat	8	15	4	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:32906460C>T	ENST00000418107.2	-	2	600		c.e2+1		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Splice_Site	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTCTCCTCACGTGTCCTGTT	0.582																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.e2+1		major histocompatibility complex, class II, DM beta							104	106	105					6																	32906460		1510	2708	4218	SO:0001630	splice_region_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906460C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.337+1G>A	6.37:g.32906460C>T						XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000418107.2_Splice_Site				P28068	DMB_HUMAN			2	532	-								O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Splice_Site	SNP	ENST00000418107.2	37		CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169133	0.57584	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-BPG181M17.5;HLA-DMB	33014438	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	2.081000	0.41596	2.631000	0.89168	0.637000	0.83480	.		0.582	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	Intron	7	283	0	0	0	1	0	7	283					T	32906460	C	T	32906460	5	4	24	1	0	0	0	0	0	0	1	0	7229	550	19	1	473	1	HLA-DMB	6	32906460	Splice_Site	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	983413	32906460	138208607	25	2924											
ZNF318	24149	broad.mit.edu	37	chr6	43307934	43307934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaagaagatgatgttgGtgattccttctttacctctt	7	9	2	4			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:43307934G>C	ENST00000361428.2	-	10	3879	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1268	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGATGTTGGTGATTCCTTC	0.403																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3802-3804)Cca>Gca		zinc finger protein 318							146	147	147					6																	43307934		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307934G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3802C>G	6.37:g.43307934G>C	ENSP00000354964:p.Pro1268Ala					ZNF318_ENST00000318149.3_Intron	p.P1268A	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3879	-			1268			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3802C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993512	0.19043	.	.	ENSG00000171467	ENST00000361428	T	0.46063	0.88	5.16	3.37	0.38596	.	0.468764	0.19877	N	0.104057	T	0.12305	0.0299	N	0.19112	0.55	0.19300	N	0.999976	B	0.33171	0.4	B	0.33960	0.173	T	0.07654	-1.0761	10	0.56958	D	0.05	-0.0185	8.6041	0.33762	0.1777:0.0:0.8223:0.0	.	1268	Q5VUA4	ZN318_HUMAN	A	1268	ENSP00000354964:P1268A	ENSP00000354964:P1268A	P	-	1	0	ZNF318	43415912	0.336000	0.24757	0.270000	0.24601	0.907000	0.53573	0.707000	0.25704	0.740000	0.32651	0.655000	0.94253	CCA		0.403	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		19	816	0	0	0	1	0	19	816					C	43307934	G	C	43307934	3	2	24	1	0	0	0	0	1	0	0	0	17889	1261	44	5	3041	5	ZNF318	6	43307934	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	10401474	43307934	127807133	26	2925											
PDE10A	10846	broad.mit.edu	37	chr6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctacagtgaccGcatgcttccagttgtgataa	11	9	0	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAGTGACCGCATGCTTCCA	0.438																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A520V(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1558-1560)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						172	134	147					6																	165806202		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806202G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V	p.A520V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1713	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	520					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG		0.438	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			6	510	0	0	0	1	0	6	510					A	165806202	G	A	165806202	3	1	24	1	0	0	0	0	1	0	0	0	11672	1087	38	1	808	1	PDE10A	6	165806202	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	122498268	165806202	5308865	27	2926											
RADIL	55698	broad.mit.edu	37	chr7	4917411	4917411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccgctgcccagcatcGccggcttggcccaccacgtc	10	20	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:4917411G>A	ENST00000399583.3	-	2	547	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RADIL_ENST00000536091.1_Silent_p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	120	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCAGCATCGCCGGCTTGGC	0.647																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(358-360)ggC>ggT		Ras association and DIL domains							43	50	48					7																	4917411		2013	4168	6181	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917411G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.360C>T	7.37:g.4917411G>A						RADIL_ENST00000536091.1_Silent_p.G120G	p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	547	-		Ovarian(82;0.0175)	120			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.360C>T	CCDS43544.1																																																																																				0.647	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		20	356	0	0	0	1	0	20	356					A	4917411	G	A	4917411	2	1	24	1	0	0	0	0	0	0	0	1	13047	1074	38	1		1	RADIL	7	4917411	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		4917411	154221252	28	2927											
DYNC1I1	1780	broad.mit.edu	37	chr7	95614249	95614249	+	Frame_Shift_Del	DEL	T	T	-													tggctgaagattccgacatcTtttttgactacagcggccga							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:95614249delT	ENST00000324972.6	+	8	947	c.754delT	c.(754-756)tttfs	p.F253fs	DYNC1I1_ENST00000537881.1_Frame_Shift_Del_p.F216fs|DYNC1I1_ENST00000457059.1_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000447467.2_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000437599.1_Frame_Shift_Del_p.F233fs|DYNC1I1_ENST00000359388.4_Frame_Shift_Del_p.F216fs	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCCGACATCTTTTTTGACTA	0.383																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(754-756)ttfs		dynein, cytoplasmic 1, intermediate chain 1							110	113	112					7																	95614249		2203	4299	6502	SO:0001589	frameshift_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614249delT	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.754delT	7.37:g.95614249delT	ENSP00000320130:p.Phe253fs					DYNC1I1_ENST00000359388.4_Frame_Shift_Del_p.F216fs|DYNC1I1_ENST00000447467.2_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000457059.1_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000437599.1_Frame_Shift_Del_p.F233fs|DYNC1I1_ENST00000537881.1_Frame_Shift_Del_p.F216fs	p.F253fs	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	947	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		253					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Frame_Shift_Del	DEL	ENST00000324972.6	37	c.754delT	CCDS5644.1																																																																																				0.383	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		9	902						9	902	---	---	---	---	-	95614249	T	-	95614249	7	5	24	1	0	1	0	1	0	0	0	0	4858	1609	56	0	780	0	DYNC1I1	7	95614249	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	90696838	95614249	63524414	29	2928											
WNT2	7472	broad.mit.edu	37	chr7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-													gattcatcagggctctggcaTcctttcctttcctttccttt							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	703						8	703	---	---	---	---	-	116955175	TCCTT	-	116955171	7	5	24	1	0	1	0	1	0	0	0	0	17440	1435	50	0	552	0	WNT2	7	116955171	Frame_Shift_Del	DEL	TCCTT	TCGA-3A-A9I7-01A-21D-A38G-08	21340922	116955171	42183492	30	2929											
DENND2A	27147	broad.mit.edu	37	chr7	140301961	140301961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactactcctcctctccacCgtagaggacggcagataatc	7	15	2	2	rs368178368	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:140301961C>T	ENST00000275884.6	-	2	654	c.237G>A	c.(235-237)acG>acA	p.T79T	DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	79					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)			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)					TCCTCTCCACCGTAGAGGACG	0.522																																						ENST00000275884.6																			0				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						c.(235-237)acG>acA		DENN/MADD domain containing 2A							156	152	153					7																	140301961		2004	4183	6187	SO:0001819	synonymous_variant	27147							g.chr7:140301961C>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.237G>A	7.37:g.140301961C>T						DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T	p.T79T			Q9ULE3	DEN2A_HUMAN			2	654	-	Melanoma(164;0.00956)		79					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.237G>A	CCDS43659.1																																																																																				0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		38	539	0	0	0	1	0	38	539					T	140301961	C	T	140301961	2	4	24	1	0	0	0	0	0	0	0	1	4445	639	23	1		1	DENND2A	7	140301961	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	23346790	140301961	18836702	31	2930											
ARHGEF10	9639	broad.mit.edu	37	chr8	1841800	1841800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactacgtagatgctcttaaGaggattttggaggtacttaa	10	5	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:1841800G>A	ENST00000398564.1	+	12	1323	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000518288.1_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000262112.6_Silent_p.K441K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTCTTAAGAGGATTTTGG	0.313																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1321-1323)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 10							134	130	131					8																	1841800		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1841800G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1323G>A	8.37:g.1841800G>A						ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000262112.6_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398564.1_Silent_p.K441K	p.K441K			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	13	1486	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	441			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.1323G>A																																																																																					0.313	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				19	316	0	0	0	1	0	19	316					A	1841800	G	A	1841800	2	1	24	1	0	0	0	0	0	0	0	1	894	933	33	2		2	ARHGEF10	8	1841800	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		1841800	144522222	32	2931											
EFHA2	286097	broad.mit.edu	37	chr8	16944491	16944491	+	Frame_Shift_Del	DEL	A	A	-													agcttcaagagatattcaggAaaaaaaatgaaaagagagaa					rs199759760		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:16944491delA	ENST00000318063.5	+	7	838	c.796delA	c.(796-798)aaafs	p.K267fs		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	267	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GATATTCAGGAAAAAAAATGA	0.348																																						ENST00000318063.5																			0											c.(796-798)aafs		mitochondrial calcium uptake family, member 3							81	87	85					8																	16944491		2203	4300	6503	SO:0001589	frameshift_variant	286097							g.chr8:16944491delA	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.796delA	8.37:g.16944491delA	ENSP00000321455:p.Lys267fs						p.K267fs	NM_181723.2	NP_859074.1					7	838	+								Q8IYZ3	Frame_Shift_Del	DEL	ENST00000318063.5	37	c.796delA	CCDS5999.1																																																																																				0.348	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		7	241						7	241	---	---	---	---	-	16944491	A	-	16944491	7	5	24	1	0	1	0	1	0	0	0	0	4960	247	9	0	822	0	EFHA2	8	16944491	Frame_Shift_Del	DEL	A	TCGA-3A-A9I7-01A-21D-A38G-08	15102691	16944491	129419531	33	2932											
TEX15	56154	broad.mit.edu	37	chr8	30695261	30695261	+	Frame_Shift_Del	DEL	T	T	-													tgaaaatgtgccatgtacacTtttttggtcacaaattgcaa							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:30695261delT	ENST00000256246.2	-	3	7464	c.7390delA	c.(7390-7392)agtfs	p.S2464fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2464					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)					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)		CCATGTACACTTTTTTGGTCA	0.358																																						ENST00000256246.2																			0				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						c.(7390-7392)gtfs		testis expressed 15							141	144	143					8																	30695261		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695261delT	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.7390delA	8.37:g.30695261delT	ENSP00000256246:p.Ser2464fs						p.S2464fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7464	-			2464						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7390delA	CCDS6080.1																																																																																				0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	1170						7	1170	---	---	---	---	-	30695261	T	-	30695261	7	5	24	1	0	1	0	1	0	0	0	0	15831	1609	56	0	987	0	TEX15	8	30695261	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	13750770	30695261	115668761	34	2933											
DDHD2	23259	broad.mit.edu	37	chr8	38110300	38110300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagtggaatttgagccaAtgctgatcccacatcataaa	9	9	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:38110300A>G	ENST00000397166.2	+	14	2203	c.1678A>G	c.(1678-1680)Atg>Gtg	p.M560V	DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V|DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	560	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ATTTGAGCCAATGCTGATCCC	0.453																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1678-1680)Atg>Gtg		DDHD domain containing 2							149	130	136					8																	38110300		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110300A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1678A>G	8.37:g.38110300A>G	ENSP00000380352:p.Met560Val					DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V	p.M560V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		14	2203	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	560			DDHD.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1678A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	5.136	0.210761	0.09757	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845	T;T	0.24908	1.83;1.83	5.34	5.34	0.76211	DDHD (2);	0.038953	0.85682	D	0.000000	T	0.12902	0.0313	N	0.11000	0.08	0.50813	D	0.999897	B	0.14012	0.009	B	0.15052	0.012	T	0.07065	-1.0792	10	0.02654	T	1	-27.1583	14.7906	0.69841	1.0:0.0:0.0:0.0	.	560	O94830	DDHD2_HUMAN	V	560;560;179;11	ENSP00000380352:M560V;ENSP00000429932:M560V	ENSP00000380352:M560V	M	+	1	0	DDHD2	38229457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.405000	0.66351	2.143000	0.66587	0.260000	0.18958	ATG		0.453	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		23	267	0	0	0	1	0	23	267					G	38110300	A	G	38110300	3	3	24	1	0	0	0	0	1	0	0	0	4338	101	4	4	1790	4	DDHD2	8	38110300	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	7415039	38110300	108253722	35	2934											
GGH	8836	broad.mit.edu	37	chr8	63938741	63938741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagttcagcggcattgCcacgtcaacagtatctgtgg	12	9	3	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:63938741C>T	ENST00000260118.6	-	5	877	c.475G>A	c.(475-477)Gca>Aca	p.A159T	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	159	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	AGCGGCATTGCCACGTCAACA	0.418																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(475-477)Gca>Aca		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						128	112	117					8																	63938741		2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63938741C>T	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.475G>A	8.37:g.63938741C>T	ENSP00000260118:p.Ala159Thr					GGH_ENST00000518113.1_5'UTR	p.A159T	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			5	877	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	159			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.475G>A	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	C	5.839	0.338973	0.11069	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.41758	0.99	5.95	-3.11	0.05299	.	0.822583	0.11689	N	0.539106	T	0.23171	0.0560	N	0.25957	0.775	0.09310	N	1	B	0.22541	0.071	B	0.23018	0.043	T	0.29088	-1.0023	10	0.16420	T	0.52	-15.4418	7.4526	0.27248	0.2851:0.5364:0.0:0.1785	.	159	Q92820	GGH_HUMAN	T	159;120	ENSP00000260118:A159T	ENSP00000260118:A159T	A	-	1	0	GGH	64101295	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.145000	0.10265	-0.452000	0.07087	-0.466000	0.05196	GCA		0.418	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			5	446	0	0	0	1	0	5	446					T	63938741	C	T	63938741	3	4	24	1	0	0	0	0	1	0	0	0	6386	739	26	2	501	2	GGH	8	63938741	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	25828441	63938741	82425281	36	2935											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y	p.A97V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	84	0	0	0	1	0	6	84					A	21971111	G	A	21971111	3	1	24	1	0	0	0	0	1	0	0	0	3170	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		21971111	119242320	37	2936											
FLJ46321	389763	broad.mit.edu	37	chr9	84607354	84607354	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttgtcctccagctcccaatCctgaattggtcagaaagtcc	7	13	1	2	rs527382695		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:84607354C>G	ENST00000344803.2	+	4	2016	c.1969C>G	c.(1969-1971)Cct>Gct	p.P657A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	657					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTCCCAATCCTGAATTGGT	0.473																																						ENST00000344803.2																			0											c.(1969-1971)Cct>Gct		SPATA31 subfamily D, member 1							97	96	96					9																	84607354		1853	4099	5952	SO:0001583	missense	389763							g.chr9:84607354C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1969C>G	9.37:g.84607354C>G	ENSP00000341988:p.Pro657Ala						p.P657A	NM_001001670.2	NP_001001670.1					4	2016	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1969C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.208708	0.01568	.	.	ENSG00000214929	ENST00000344803	T	0.06687	3.27	3.36	-6.71	0.01760	.	2.901690	0.01128	N	0.005932	T	0.07503	0.0189	L	0.42245	1.32	0.09310	N	1	B	0.28713	0.22	B	0.38225	0.268	T	0.37753	-0.9692	10	0.12430	T	0.62	2.2681	0.5365	0.00638	0.3571:0.186:0.1181:0.3388	.	657	Q6ZQQ2	F75D1_HUMAN	A	657	ENSP00000341988:P657A	ENSP00000341988:P657A	P	+	1	0	FAM75D1	83797174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.455000	0.02379	-2.568000	0.00469	-0.169000	0.13324	CCT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	300	0	0	0	1	0	4	300					G	84607354	C	G	84607354	3	3	24	1	0	0	0	0	1	0	0	0	5957	855	30	5	1983	5	FLJ46321	9	84607354	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	62636243	84607354	56606077	38	2937											
PITRM1	10531	broad.mit.edu	37	chr10	3189836	3189836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgccctgatggatgcGtacaggtgcccagagtcagg	15	12	1	2	rs539148366	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:3189836G>A	ENST00000224949.4	-	19	2197	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	PITRM1_ENST00000380989.2_Silent_p.Y722Y|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.Y279Y|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.Y623Y|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	721					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGATGGATGCGTACAGGTGCC	0.587													G|||	9	0.00179712	0.0	0.0	5008	,	,		16009	0.0		0.0	False		,,,				2504	0.0092					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2164-2166)taC>taT		pitrilysin metallopeptidase 1							91	101	98					10																	3189836		1971	4164	6135	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189836G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2163C>T	10.37:g.3189836G>A						PITRM1_ENST00000224949.4_Silent_p.Y721Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Y279Y|PITRM1_ENST00000451104.2_Silent_p.Y623Y	p.Y722Y	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2204	-			623					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.2166C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	1.070	-0.670155	0.03403	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-5.9	0.02275	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65294	-0.6203	4	.	.	.	-34.7599	15.4475	0.75243	0.4854:0.0:0.5146:0.0	.	.	.	.	C	55	.	.	R	-	1	0	PITRM1	3179836	0.340000	0.24792	0.202000	0.23494	0.008000	0.06430	-0.149000	0.10204	-1.117000	0.02965	-0.367000	0.07326	CGC		0.587	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			5	447	0	0	0	1	0	5	447					A	3189836	G	A	3189836	2	1	24	1	0	0	0	0	0	0	0	1	11995	1140	40	1		1	PITRM1	10	3189836	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		3189836	132344911	39	2938											
SLC18A3	6572	broad.mit.edu	37	chr10	50819671	50819671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacattgccgtggtggcCggcgcgctcaccacctgtaa	11	16	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642																																						ENST00000374115.3																			1	Substitution - coding silent(1)	p.A295A(1)	large_intestine(1)	endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(883-885)gcC>gcT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							64	61	62					10																	50819671		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819671C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	10.37:g.50819671C>T						CHAT_ENST00000339797.1_Intron	p.A295A	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1325	+			295					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.885C>T	CCDS7231.1																																																																																				0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		6	314	0	0	0	1	0	6	314					T	50819671	C	T	50819671	2	4	24	1	0	0	0	0	0	0	0	1	14477	639	23	1		1	SLC18A3	10	50819671	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	47629835	50819671	84715076	40	2939											
C10orf12	26148	broad.mit.edu	37	chr10	98741564	98741565	+	Frame_Shift_Ins	INS	-	-	A													agatgatatcaacctccatcINSaagacagctcggaaaagtaa							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:98741564_98741565insA	ENST00000286067.2	+	1	524_525	c.417_418insA	c.(418-420)aagfs	p.K140fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	140										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAACCTCCATCAAGACAGCTCG	0.436																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(415-420)atagacfs		chromosome 10 open reading frame 12																																				SO:0001589	frameshift_variant	26148							g.chr10:98741564_98741565insA	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.419dupA	10.37:g.98741566_98741566dupA	ENSP00000286067:p.Lys140fs						p.D140fs	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	524_525	+		Colorectal(252;0.172)	140					Q9H945|Q9Y457	Frame_Shift_Ins	INS	ENST00000286067.2	37	c.417_418insA	CCDS7452.1																																																																																				0.436	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		7	451						7	451	---	---	---	---	A	98741565	-	A	98741564	7	5	24	1	0	1	1	0	0	0	0	0	1594	816	29	0	419	0	C10orf12	10	98741564	Frame_Shift_Ins	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08	47921893	98741564	36793183	41	2940											
ST5	6764	broad.mit.edu	37	chr11	8751790	8751791	+	Frame_Shift_Ins	INS	-	-	C													cttccctctctgggggtgggINScccgcctcccccgcaacacc					rs142688671		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:8751790_8751791insC	ENST00000534127.1	-	6	1431_1432	c.1046_1047insG	c.(1045-1047)ggcfs	p.G349fs	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Frame_Shift_Ins_p.G349fs|ST5_ENST00000313726.6_Frame_Shift_Ins_p.G349fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	349					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGGGTGGGCCCGCCTCCCC	0.678																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1045-1047)gccfs		suppression of tumorigenicity 5																																				SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751790_8751791insC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1047dupG	11.37:g.8751793_8751793dupC	ENSP00000433528:p.Gly349fs					ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Frame_Shift_Ins_p.A349fs|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Ins_p.A349fs	p.A349fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1431_1432	-			349					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Ins	INS	ENST00000534127.1	37	c.1046_1047insG	CCDS7791.1																																																																																				0.678	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		9	419						9	419	---	---	---	---	C	8751791	-	C	8751790	7	5	24	1	0	1	1	0	0	0	0	0	15272	1190	42	0	2438	0	ST5	11	8751790	Frame_Shift_Ins	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08		8751790	126254726	42	2941											
OVOL1	5017	broad.mit.edu	37	chr11	65554913	65554913	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaactggagcgagctcccCgacgaggagcgcggcgagat	17	11	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:65554913C>G	ENST00000335987.3	+	1	421	c.69C>G	c.(67-69)ccC>ccG	p.P23P	RP11-770G2.4_ENST00000527453.1_RNA|RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCGAGCTCCCCGACGAGGAGC	0.721																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(67-69)ccC>ccG		ovo-like zinc finger 1							29	29	29					11																	65554913		2192	4284	6476	SO:0001819	synonymous_variant	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65554913C>G	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.69C>G	11.37:g.65554913C>G							p.P23P	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	1	421	+			23					Q6PCB1	Silent	SNP	ENST00000335987.3	37	c.69C>G	CCDS8112.1																																																																																				0.721	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		5	39	0	0	0	1	0	5	39					G	65554913	C	G	65554913	2	3	24	1	0	0	0	0	0	0	0	1	11368	639	23	5		5	OVOL1	11	65554913	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	56803123	65554913	69451603	43	2942											
LRP5	4041	broad.mit.edu	37	chr11	68197125	68197125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaccacggtgctcatgCccagtccacctcgtgctcct	10	17	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:68197125C>T	ENST00000294304.7	+	17	3826	c.3720C>T	c.(3718-3720)tgC>tgT	p.C1240C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1240	EGF-like 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGCTCATGCCCAGTCCACC	0.572																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3718-3720)tgC>tgT		low density lipoprotein receptor-related protein 5							153	112	126					11																	68197125		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68197125C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3720C>T	11.37:g.68197125C>T							p.C1240C	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			17	3826	+			1240			EGF-like 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3720C>T	CCDS8181.1																																																																																				0.572	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		5	357	0	0	0	1	0	5	357					T	68197125	C	T	68197125	2	4	24	1	0	0	0	0	0	0	0	1	8998	747	26	2		2	LRP5	11	68197125	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	2642212	68197125	66809391	44	2943											
CACNA1C	775	broad.mit.edu	37	chr12	2797804	2797804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcccatccatccactgCggctcctgggctgagaccac	9	17	0	1	rs369690952		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:2797804C>T	ENST00000347598.4	+	48	6120	c.6120C>T	c.(6118-6120)tgC>tgT	p.C2040C	CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399655.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C_ENST00000399591.1_Silent_p.C2000C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					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)			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)	CCATCCACTGCGGCTCCTGGG	0.721																																						ENST00000399655.1																			0				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						c.(5974-5976)tgC>tgT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,3874		0,0,1937	40	47	45		5976,6120,6099,6081,6060,6036,6033,6033,6033,6027,6000,6000,5994,5976,5976,5976,5976,5967,5943,5976,6081,6156,6225	4.1	1	12		45	1,8267		0,1,4133	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,,,,,,,,,,,,,,,,,,,,,,	1992/2139,2040/2187,2033/2180,2027/2174,2020/2167,2012/2159,2011/2158,2011/2158,2011/2158,2009/2156,2000/2147,2000/2147,1998/2145,1992/2139,1992/2139,1992/2139,1992/2139,1989/2136,1981/2128,1992/2139,2027/2174,2052/2199,2075/2222	2797804	1,12141	1937	4134	6071	SO:0001819	synonymous_variant	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.chr12:2797804C>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.6120C>T	12.37:g.2797804C>T						CACNA1C_ENST00000347598.4_Silent_p.C2040C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399649.1_Silent_p.C1998C	p.C1992C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6241	+			2075					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	Silent	SNP	ENST00000347598.4	37	c.5976C>T	CCDS44788.1																																																																																				0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	453	0	0	0	1	0	6	453					T	2797804	C	T	2797804	2	4	24	1	0	0	0	0	0	0	0	1	2547	776	27	1		1	CACNA1C	12	2797804	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		2797804	131054091	45	2944											
RAD51AP1	10635	broad.mit.edu	37	chr12	4653066	4653066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaagagaaaacccctaaaAaaaggtgagaggtaagacat	9	6	0	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:4653066A>G	ENST00000544927.1	+	3	215	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AACCCCTAAAAAAAGGTGAGA	0.353																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(205-207)Aaa>Gaa		RAD51 associated protein 1							47	44	45					12																	4653066		2203	4299	6502	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4653066A>G	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.205A>G	12.37:g.4653066A>G	ENSP00000446296:p.Lys69Glu					RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000543041.1_5'UTR	p.K69E	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		3	255	+			69						Missense_Mutation	SNP	ENST00000544927.1	37	c.205A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.708549|2.708549	0.48517|0.48517	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T|T	0.32988|0.34072	1.43;1.43;1.43;1.43|1.38	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.120167|0.120167	0.51477|0.51477	D|N	0.000083|0.000083	T|T	0.45054|0.45054	0.1323|0.1323	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|8	0.52906|0.20046	T|T	0.07|0.44	-19.6144|-19.6144	7.6299|7.6299	0.28232|0.28232	0.9038:0.0:0.0962:0.0|0.9038:0.0:0.0962:0.0	.|.	69;69|.	Q96B01;Q96B01-2|.	R51A1_HUMAN;.|.	E|R	69|63	ENSP00000323750:K69E;ENSP00000228843:K69E;ENSP00000309479:K69E;ENSP00000446296:K69E|ENSP00000444769:K63R	ENSP00000228843:K69E|ENSP00000444769:K63R	K|K	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523327|4523327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	3.552000|3.552000	0.53705|0.53705	1.884000|1.884000	0.54569|0.54569	0.477000|0.477000	0.44152|0.44152	AAA|AAA		0.353	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		5	245	0	0	0	1	0	5	245					G	4653066	A	G	4653066	3	3	24	1	0	0	0	0	1	0	0	0	13036	15	1	4	215	4	RAD51AP1	12	4653066	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	1855262	4653066	129198829	46	2945											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		22	292	0	0	0	1	0	22	292					T	25398284	C	T	25398284	3	4	24	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	20745218	25398284	108453611	47	2946											
PTHLH	5744	broad.mit.edu	37	chr12	28116383	28116383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcagagcgagttcgcCgttttttcttttcctgctcc	9	13	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:28116383C>T	ENST00000545234.1	-	5	962	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000535992.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAGTTCGCCGTTTTTTCTT	0.542																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(421-423)cGg>cAg		parathyroid hormone-like hormone							175	153	160					12																	28116383		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116383C>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"Endogenous ligands"	9607	protein-coding gene	gene with protein product	"osteostatin", "parathyroid hormone-like hormone preproprotein", "parathyroid hormone-related protein preproprotein"	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.422G>A	12.37:g.28116383C>T	ENSP00000441765:p.Arg141Gln					PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.R141Q	p.R141Q			P12272	PTHR_HUMAN			3	768	-	Lung SC(9;0.184)		141					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.422G>A	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072552	0.93950	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963	D;D;D;D;D;D;D;D;D	0.92199	-2.88;-2.88;-2.88;-2.99;-2.99;-2.87;-2.87;-2.87;-2.85	5.63	5.63	0.86233	.	0.053580	0.64402	D	0.000001	D	0.95589	0.8566	M	0.66939	2.045	0.42178	D	0.991676	D	0.76494	0.999	D	0.72625	0.978	D	0.95866	0.8887	10	0.87932	D	0	-14.8282	18.6479	0.91418	0.0:1.0:0.0:0.0	.	141	P12272	PTHR_HUMAN	Q	141	ENSP00000379213:R141Q;ENSP00000441571:R141Q;ENSP00000441765:R141Q;ENSP00000441890:R141Q;ENSP00000346398:R141Q;ENSP00000201015:R141Q;ENSP00000440613:R141Q;ENSP00000379209:R141Q;ENSP00000444519:R141Q	ENSP00000201015:R141Q	R	-	2	0	PTHLH	28007650	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	4.979000	0.63806	2.657000	0.90304	0.591000	0.81541	CGG		0.542	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		26	408	0	0	0	1	0	26	408					T	28116383	C	T	28116383	3	4	24	1	0	0	0	0	1	0	0	0	12809	652	23	1	123	1	PTHLH	12	28116383	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	2718099	28116383	105735512	48	2947											
PDZRN4	29951	broad.mit.edu	37	chr12	41966629	41966629	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttgagtgtcagaataTcatgcaggctcacaggctcc	11	10	3	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:41966629T>A	ENST00000402685.2	+	10	2056	c.2048T>A	c.(2047-2049)aTc>aAc	p.I683N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGTCAGAATATCATGCAGGCT	0.448																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1267-1269)aTc>aAc		PDZ domain containing ring finger 4							99	91	94					12																	41966629		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966629T>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2048T>A	12.37:g.41966629T>A	ENSP00000384197:p.Ile683Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.I683N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N	p.I423N			Q6ZMN7	PZRN4_HUMAN			10	1656	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	683			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1268T>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672946	0.67928	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.81499	-1.5;3.01;3.0	4.64	4.64	0.57946	.	0.151474	0.45126	D	0.000400	D	0.88880	0.6557	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.90408	0.4407	10	0.87932	D	0	-34.5847	14.7814	0.69769	0.0:0.0:0.0:1.0	.	683;423;425	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	683;425;423	ENSP00000384197:I683N;ENSP00000439990:I425N;ENSP00000298919:I423N	ENSP00000298919:I423N	I	+	2	0	PDZRN4	40252896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.049000	0.60858	0.528000	0.53228	ATC		0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		8	244	0	0	0	1	0	8	244					A	41966629	T	A	41966629	3	1	24	1	0	0	0	0	1	0	0	0	11752	1435	50	5	2159	5	PDZRN4	12	41966629	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	13850246	41966629	91885266	49	2948											
UBL3	5412	broad.mit.edu	37	chr13	30351362	30351363	+	Frame_Shift_Del	DEL	TT	TT	-													ttaggagaaaacaggaactcTtttgtttttccgcttaccaa							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr13:30351362_30351363delTT	ENST00000380680.4	-	2	1210_1211	c.65_66delAA	c.(64-66)aaafs	p.K22fs		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	22	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGAACTCTTTTGTTTTTCC	0.317																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(64-66)afs		ubiquitin-like 3																																				SO:0001589	frameshift_variant	5412					intracellular|plasma membrane		g.chr13:30351362_30351363delTT	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.65_66delAA	13.37:g.30351364_30351365delTT	ENSP00000370055:p.Lys22fs						p.K22fs	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	2	1210_1211	-		Lung SC(185;0.0281)	22			Ubiquitin-like.		B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Frame_Shift_Del	DEL	ENST00000380680.4	37	c.65_66delAA	CCDS9334.1																																																																																				0.317	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		25	358						25	358	---	---	---	---	-	30351363	TT	-	30351362	7	5	24	1	0	1	0	1	0	0	0	0	16940	1606	56	0	303	0	UBL3	13	30351362	Frame_Shift_Del	DEL	TT	TCGA-3A-A9I7-01A-21D-A38G-08		30351362	84818516	50	2949											
RPS6KA5	9252	broad.mit.edu	37	chr14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-													gactgcaaaagcttggttacTttttttatgcacacactttc							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1342-1344)gtfs		ribosomal protein S6 kinase, 90kDa, polypeptide 5							91	92	92					14																	91366489		2203	4300	6503	SO:0001589	frameshift_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91366489delT	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1342delA	14.37:g.91366489delT	ENSP00000261991:p.Ser448fs					RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs|RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs	p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	11	1515	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	448			Protein kinase 2.		O95316|Q96AF7	Frame_Shift_Del	DEL	ENST00000261991.3	37	c.1342delA	CCDS9893.1																																																																																				0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		7	665						7	665	---	---	---	---	-	91366489	T	-	91366489	7	5	24	1	0	1	0	1	0	0	0	0	13704	1609	56	0	1100	0	RPS6KA5	14	91366489	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08		91366489	15983051	51	2950											
THBS1	7057	broad.mit.edu	37	chr15	39881506	39881506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccccacgcttcaccgGctcacagcccttcggccagg	9	21	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:39881506G>A	ENST00000260356.5	+	12	2042	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	626					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGCTTCACCGGCTCACAGCCC	0.587																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1876-1878)gGc>gAc		thrombospondin 1	Becaplermin(DB00102)						74	79	77					15																	39881506		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881506G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1877G>A	15.37:g.39881506G>A	ENSP00000260356:p.Gly626Asp						p.G626D	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2042	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	626			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.1877G>A	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280128|5.280128	0.95489|0.95489	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000397593|ENST00000260356	.|T	.|0.80909	.|-1.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Epidermal growth factor-like (1);	.|0.000000	.|0.36778	.|N	.|0.002402	D|D	0.93054|0.93054	0.7789|0.7789	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.94423|0.94423	0.7642|0.7642	6|10	0.87932|0.87932	D|D	0|0	-36.3388|-36.3388	19.6845|19.6845	0.95976|0.95976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|541;626	.|B4E3J7;P07996	.|.;TSP1_HUMAN	T|D	60|626	.|ENSP00000260356:G626D	ENSP00000380721:A60T|ENSP00000260356:G626D	A|G	+|+	1|2	0|0	THBS1|THBS1	37668798|37668798	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.725000|0.725000	0.41563|0.41563	9.869000|9.869000	0.99810|0.99810	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.587	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	365	0	0	0	1	0	5	365					A	39881506	G	A	39881506	3	1	24	1	0	0	0	0	1	0	0	0	15905	1203	42	2	1919	2	THBS1	15	39881506	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		39881506	62649886	52	2951											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139	137	138					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			7	562						7	562	---	---	---	---	-	67963919	T	-	67963919	7	5	24	1	0	1	0	1	0	0	0	0	4039	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08		67963919	22390834	53	2952											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		7	116	0	0	0	1	0	7	116					G	84600451	T	G	84600451	4	3	24	1	0	0	0	0	0	0	0	0	3770	1732	60	4	3	4	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	16636532	84600451	5754302	54	2953											
TOM1L2	146691	broad.mit.edu	37	chr17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccacatacgtcttgCgctgctcagccaaggagttt	12	13	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:17766051C>T	ENST00000379504.3	-	11	1279	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R349H|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1045-1047)cGc>cAc		target of myb1-like 2 (chicken)							187	196	193					17																	17766051		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766051C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1196G>A	17.37:g.17766051C>T	ENSP00000368818:p.Arg399His					TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H	p.R349H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1142	-	all_neural(463;0.228)		399					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1046G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564552	0.86439	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.50277	1.8;1.78;1.74;1.73;0.75	5.88	1.72	0.24424	.	0.216900	0.49305	N	0.000150	T	0.55497	0.1924	L	0.48362	1.52	0.47698	D	0.999497	B;P;D;D;B;B	0.89917	0.066;0.698;1.0;0.999;0.049;0.082	B;B;D;D;B;B	0.71414	0.01;0.098;0.973;0.923;0.006;0.014	T	0.45760	-0.9239	10	0.32370	T	0.25	-7.2771	10.4987	0.44794	0.0:0.7416:0.0:0.2584	.	301;251;346;354;399;349	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	H	399;349;354;346;301;251	ENSP00000368818:R399H;ENSP00000379088:R354H;ENSP00000438621:R346H;ENSP00000437655:R301H;ENSP00000445188:R251H	ENSP00000312860:R349H	R	-	2	0	TOM1L2	17706776	0.996000	0.38824	0.965000	0.40720	0.969000	0.65631	2.836000	0.48183	0.116000	0.18110	0.655000	0.94253	CGC		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			9	1091	0	0	0	1	0	9	1091					T	17766051	C	T	17766051	3	4	24	1	0	0	0	0	1	0	0	0	16405	768	27	1	347	1	TOM1L2	17	17766051	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		17766051	63429159	55	2954											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183129	39183129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaatgccacagccAgttccgcaggagctgatctg	9	16	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(277-279)acT>acC		keratin associated protein 1-5							24	28	26					17																	39183129		2076	4218	6294	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183129A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G							p.T93T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	325	-		Breast(137;0.00043)	93			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.279T>C	CCDS42321.1																																																																																				0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			5	163	0	0	0	1	0	5	163					G	39183129	A	G	39183129	2	3	24	1	0	0	0	0	0	0	0	1	8534	175	7	4		4	KRTAP1-5	17	39183129	Silent	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	21417078	39183129	42012081	56	2955											
FKBP10	60681	broad.mit.edu	37	chr17	39969498	39969498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgctaccactacaacgGcacttttgaagatggcaaga	10	10	0	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39969498G>A	ENST00000321562.4	+	1	316	c.212G>A	c.(211-213)gGc>gAc	p.G71D	LEPREL4_ENST00000355468.3_5'Flank|LEPREL4_ENST00000393928.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	71	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACTACAACGGCACTTTTGAA	0.592																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(211-213)gGc>gAc		FK506 binding protein 10, 65 kDa							113	122	119					17																	39969498		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969498G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.212G>A	17.37:g.39969498G>A	ENSP00000317232:p.Gly71Asp						p.G71D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	316	+		Breast(137;0.00122)	71			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.212G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198927	0.94997	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.89681	-2.55;-2.55	5.54	5.54	0.83059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.137803	0.47093	D	0.000242	D	0.97151	0.9069	H	0.98786	4.33	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98667	1.0686	10	0.87932	D	0	-15.809	19.0918	0.93229	0.0:0.0:1.0:0.0	.	71	Q96AY3	FKB10_HUMAN	D	71;11;71;71	ENSP00000408232:G11D;ENSP00000317232:G71D	ENSP00000269598:G71D	G	+	2	0	FKBP10	37223024	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.423000	0.73361	2.603000	0.88011	0.655000	0.94253	GGC		0.592	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		8	904	0	0	0	1	0	8	904					A	39969498	G	A	39969498	3	1	24	1	0	0	0	0	1	0	0	0	5927	1203	42	2	214	2	FKBP10	17	39969498	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	786369	39969498	41225712	57	2956											
CDC27	996	broad.mit.edu	37	chr17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagttgctaaagttctgtAaagatgtgaatttaaatgtt	9	3	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383																																						ENST00000066544.3																			1	Substitution - Missense(1)	p.L173S(1)	NS(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(517-519)tTa>tCa		cell division cycle 27							77	77	77					17																	45234708		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234708A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S	p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	611	-			173					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.518T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			5	373	0	0	0	1	0	5	373					G	45234708	A	G	45234708	3	3	24	1	0	0	0	0	1	0	0	0	3075	372	13	4	2030	4	CDC27	17	45234708	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	5265210	45234708	35960502	58	2957											
TRIM25	7706	broad.mit.edu	37	chr17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-													atggtgctctggtggatgccTtttatcagcttgtggttcag							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aaafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)aafs		tripartite motif containing 25							430	383	399					17																	54978862		2203	4300	6503	SO:0001589	frameshift_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978862delT	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1005delA	17.37:g.54978862delT	ENSP00000323889:p.Lys335fs					TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			4	1054	-	Breast(9;6.15e-08)		335			Interaction with influenza A virus NS1.			Frame_Shift_Del	DEL	ENST00000316881.4	37	c.1005delA	CCDS11591.1																																																																																				0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		7	1716						7	1716	---	---	---	---	-	54978862	T	-	54978862	7	5	24	1	0	1	0	1	0	0	0	0	16552	1606	56	0	911	0	TRIM25	17	54978862	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	9744154	54978862	26216348	59	2958											
RPTOR	57521	broad.mit.edu	37	chr17	78923328	78923328	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcaggggctctcggaCatgctgccaacgacgcgagg	17	12	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:78923328C>G	ENST00000306801.3	+	28	3713	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E	RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1117					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCTCGGACATGCTGCCAA	0.617																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3349-3351)gaC>gaG		regulatory associated protein of MTOR, complex 1							146	139	141					17																	78923328		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78923328C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3351C>G	17.37:g.78923328C>G	ENSP00000307272:p.Asp1117Glu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E	p.D1117E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			28	3713	+			1117					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.3351C>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862663	0.32884	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48836	0.82;0.8	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.39566	1.225	0.80722	D	1	D;B	0.61697	0.99;0.031	D;B	0.73380	0.98;0.01	T	0.52079	-0.8623	10	0.33940	T	0.23	.	11.2536	0.49041	0.0:0.9153:0.0:0.0847	.	959;1117	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	1117;959	ENSP00000307272:D1117E;ENSP00000442479:D959E	ENSP00000307272:D1117E	D	+	3	2	RPTOR	76537923	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.572000	0.60886	2.182000	0.69389	0.462000	0.41574	GAC		0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		34	631	0	0	0	1	0	34	631					G	78923328	C	G	78923328	3	3	24	1	0	0	0	0	1	0	0	0	13715	477	17	5	3461	5	RPTOR	17	78923328	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	23944466	78923328	2271882	60	2959											
APCDD1	147495	broad.mit.edu	37	chr18	10485496	10485496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctgtcggatcatctAtcggtcagacgagcaccacc	9	15	3	1	rs547035524		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:10485496A>G	ENST00000355285.5	+	4	1166	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGGATCATCTATCGGTCAGAC	0.602													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(811-813)tAt>tGt		adenomatosis polyposis coli down-regulated 1							127	113	118					18																	10485496		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10485496A>G	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.812A>G	18.37:g.10485496A>G	ENSP00000347433:p.Tyr271Cys					APCDD1_ENST00000578882.1_Intron	p.Y271C	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	4	1166	+			271						Missense_Mutation	SNP	ENST00000355285.5	37	c.812A>G	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937161	0.34189	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18016	2.24	4.9	2.39	0.29439	.	0.373449	0.31872	N	0.006924	T	0.25865	0.0630	L	0.54323	1.7	0.80722	D	1	P	0.49307	0.922	P	0.54346	0.749	T	0.00719	-1.1595	10	0.48119	T	0.1	-27.5474	9.1807	0.37141	0.5802:0.0:0.0:0.4198	.	271	Q8J025	APCD1_HUMAN	C	271;322	ENSP00000347433:Y271C	ENSP00000347433:Y271C	Y	+	2	0	APCDD1	10475496	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	2.380000	0.44327	0.314000	0.23086	0.454000	0.30748	TAT		0.602	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		26	489	0	0	0	1	0	26	489					G	10485496	A	G	10485496	3	3	24	1	0	0	0	0	1	0	0	0	765	449	16	4	826	4	APCDD1	18	10485496	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08		10485496	67591752	61	2960											
C18orf8	29919	broad.mit.edu	37	chr18	21110072	21110072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagttcctgcagtaccaCgtcctcagcgactccaaacc	6	17	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:21110072C>T	ENST00000269221.3	+	17	1685	c.1575C>T	c.(1573-1575)caC>caT	p.H525H	C18orf8_ENST00000590868.1_Silent_p.H477H|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCAGTACCACGTCCTCAGCG	0.393																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1573-1575)caC>caT		chromosome 18 open reading frame 8							240	245	243					18																	21110072		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21110072C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1575C>T	18.37:g.21110072C>T						C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.H477H	p.H525H	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			17	1685	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		525			Mic1.		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.1575C>T	CCDS32803.1																																																																																				0.393	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		38	1556	0	0	0	1	0	38	1556					T	21110072	C	T	21110072	2	4	24	1	0	0	0	0	0	0	0	1	1914	535	19	1		1	C18orf8	18	21110072	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	10624576	21110072	56967176	62	2961											
ZNF521	25925	broad.mit.edu	37	chr18	22806967	22806967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagttcttcttctccccGctatgcacctgctccatgtg	7	15	3	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:22806967G>A	ENST00000361524.3	-	4	1063	c.915C>T	c.(913-915)agC>agT	p.S305S	ZNF521_ENST00000538137.2_Silent_p.S305S|ZNF521_ENST00000584787.1_Silent_p.S85S|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	305					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTCTCCCCGCTATGCACCT	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(913-915)agC>agT		zinc finger protein 521							115	108	110					18																	22806967		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806967G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.915C>T	18.37:g.22806967G>A						ZNF521_ENST00000584787.1_Silent_p.S85S|ZNF521_ENST00000538137.2_Silent_p.S305S	p.S305S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1063	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		305					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.915C>T	CCDS32806.1																																																																																				0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	242	0	0	0	1	0	8	242					A	22806967	G	A	22806967	2	1	24	1	0	0	0	0	0	0	0	1	18018	1078	38	1		1	ZNF521	18	22806967	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	1696895	22806967	55270281	63	2962											
ANKRD24	170961	broad.mit.edu	37	chr19	4217177	4217177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaccacaaacatggagGccacgggctctagggccaca	13	13	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:4217177G>A	ENST00000600132.1	+	18	2296	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAACATGGAGGCCACGGGCTC	0.612																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(2020-2022)Gcc>Acc		ankyrin repeat domain 24							24	31	28					19																	4217177		2143	4248	6391	SO:0001583	missense	170961							g.chr19:4217177G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2020G>A	19.37:g.4217177G>A	ENSP00000471252:p.Ala674Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2296	+			674					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.2020G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.347909	0.41599	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.39229	1.12;1.09	2.05	0.887	0.19200	.	.	.	.	.	T	0.24353	0.0590	N	0.19112	0.55	0.22975	N	0.998482	P;D	0.53885	0.937;0.963	B;B	0.41174	0.143;0.349	T	0.12091	-1.0561	9	0.24483	T	0.36	.	8.2537	0.31741	0.0:0.0:0.7599:0.2401	.	674;764	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	674;764	ENSP00000321731:A674T;ENSP00000262970:A764T	ENSP00000262970:A764T	A	+	1	0	ANKRD24	4168177	0.032000	0.19561	0.033000	0.17914	0.010000	0.07245	0.256000	0.18351	0.156000	0.19299	0.407000	0.27541	GCC		0.612	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		6	85	0	0	0	1	0	6	85					A	4217177	G	A	4217177	3	1	24	1	0	0	0	0	1	0	0	0	653	1203	42	2	2086	2	ANKRD24	19	4217177	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		4217177	54911806	64	2963											
DOCK6	57572	broad.mit.edu	37	chr19	11326596	11326596	+	Frame_Shift_Del	DEL	T	T	-													tgttgatgcgttcaaaggccTttttcccctgggggtgcaga							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:11326596delT	ENST00000294618.7	-	31	3913	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCAAAGGCCTTTTTCCCCTG	0.542																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3901-3903)agfs		dedicator of cytokinesis 6							93	87	89					19																	11326596		1908	4113	6021	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326596delT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3902delA	19.37:g.11326596delT	ENSP00000294618:p.Lys1301fs					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs	p.K1301fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	3913	-			1301					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.3902delA	CCDS45975.1																																																																																				0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		7	527						7	527	---	---	---	---	-	11326596	T	-	11326596	7	5	24	1	0	1	0	1	0	0	0	0	4707	1609	56	0	2313	0	DOCK6	19	11326596	Frame_Shift_Del	DEL	T	TCGA-3A-A9I7-01A-21D-A38G-08	7109419	11326596	47802387	65	2964											
ZNF763	284390	broad.mit.edu	37	chr19	12088187	12088187	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgtgtctgtattttaggGaaaaagtggaaagaccagaa	11	4	2	2	rs374392113		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:12088187G>A	ENST00000358987.3	+	3	259	c.132G>A	c.(130-132)ggG>ggA	p.G44G	ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000590798.1_Splice_Site_p.G64G			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GTATTTTAGGGAAAAAGTGGA	0.353																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.e3-1		zinc finger protein 763		G		0,4406		0,0,2203	86	88	88		141	-1.6	0	19		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ZNF763	NM_001012753.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		47/398	12088187	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	284390							g.chr19:12088187G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.131-1G>A	19.37:g.12088187G>A						ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000590798.1_Splice_Site_p.G64_splice|ZNF763_ENST00000538752.1_Splice_Site_p.G64_splice|ZNF763_ENST00000358987.3_Splice_Site_p.G44_splice|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Intron	p.G47_splice	NM_001012753.1	NP_001012771.1					3	296	+								B3KRU3|B4DRE7	Splice_Site	SNP	ENST00000358987.3	37	c.139_splice																																																																																					0.353	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753	Silent	5	437	0	0	0	1	0	5	437					A	12088187	G	A	12088187	5	1	24	1	0	0	0	0	0	0	1	0	18190	1188	41	2	151	2	ZNF763	19	12088187	Splice_Site	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	761591	12088187	47040796	66	2965											
KIAA0892	23383	broad.mit.edu	37	chr19	19452209	19452209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacccactatctggatgCcgggcaggtgtgtggcgcct	15	12	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:19452209C>T	ENST00000392313.6	+	7	907	c.728C>T	c.(727-729)gCc>gTc	p.A243V	MAU2_ENST00000262815.8_Missense_Mutation_p.A243V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	243					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TATCTGGATGCCGGGCAGGTG	0.622																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(727-729)gCc>gTc		MAU2 sister chromatid cohesion factor							45	50	49					19																	19452209		2176	4270	6446	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19452209C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.728C>T	19.37:g.19452209C>T	ENSP00000376127:p.Ala243Val					MAU2_ENST00000262815.8_Missense_Mutation_p.A243V|MAU2_ENST00000585823.2_3'UTR	p.A243V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			7	774	+			243					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.728C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491074	0.26774	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	N	0.16903	0.455	0.80722	D	1	B	0.26935	0.164	B	0.30943	0.122	T	0.34850	-0.9812	9	0.28530	T	0.3	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	243	Q9Y6X3	SCC4_HUMAN	V	243	.	ENSP00000262815:A243V	A	+	2	0	MAU2	19313209	1.000000	0.71417	0.873000	0.34254	0.499000	0.33736	7.610000	0.82949	2.462000	0.83206	0.561000	0.74099	GCC		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		4	138	0	0	0	1	0	4	138					T	19452209	C	T	19452209	3	4	24	1	0	0	0	0	1	0	0	0	8226	739	26	2	754	2	KIAA0892	19	19452209	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	7364022	19452209	39676774	67	2966											
UBA2	10054	broad.mit.edu	37	chr19	34921468	34921485	+	Splice_Site	DEL	TATGCATTTGTAGATTGA	TATGCATTTGTAGATTGA	-													tttgtcatttatctggggttTatgcatttgtagattgatct					rs146650320	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	ENST00000246548.4	+	2	208_213	c.138_143delTATGCATTTGTAGATTGA	c.(136-144)cttatgcat>ctt	p.MH47del	UBA2_ENST00000439527.2_5'UTR|CTD-2588C8.8_ENST00000592220.1_RNA	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	47					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCTGGGGTTTATGCATTTGTAGATTGATCTGGATACT	0.362																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.e2-1		ubiquitin-like modifier activating enzyme 2																																				SO:0001630	splice_region_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.139-1TATGCATTTGTAGATTGA>-	19.37:g.34921468_34921485delTATGCATTTGTAGATTGA						UBA2_ENST00000439527.2_5'UTR	p.L47_splice	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		2	208_213	+	Esophageal squamous(110;0.162)		47					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	DEL	ENST00000246548.4	37	c.138_splice	CCDS12439.1																																																																																				0.362	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	In_Frame_Del	9	351						9	351	---	---	---	---	-	34921485	TATGCATTTGTAGATTGA	-	34921468	8	5	24	1	0	1	0	1	0	0	1	0	16882	1769	61	0		0	UBA2	19	34921468	Splice_Site	DEL	TATGCATTTGTAGATTGA	TCGA-3A-A9I7-01A-21D-A38G-08	15469259	34921468	24207515	68	2967											
RYR1	6261	broad.mit.edu	37	chr19	38958285	38958285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcgttgtgaccgggtgCgcatcttccgggcagagaaa	14	10	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:38958285C>T	ENST00000359596.3	+	25	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1072C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.R1072C(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)	TGACCGGGTGCGCATCTTCCG	0.572																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.R1072C(1)	large_intestine(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						c.(3214-3216)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						103	97	99					19																	38958285		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958285C>T	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.3214C>T	19.37:g.38958285C>T	ENSP00000352608:p.Arg1072Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1072C	p.R1072C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3345	+	all_cancers(60;7.91e-06)		1072			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3214C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686114	0.29962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97688	-4.49;-4.49;-4.49	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000016	D	0.98604	0.9533	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99053	1.0828	10	0.87932	D	0	.	14.736	0.69416	0.0:1.0:0.0:0.0	.	1072;1072	P21817-2;P21817	.;RYR1_HUMAN	C	1072	ENSP00000352608:R1072C;ENSP00000347667:R1072C;ENSP00000354254:R1072C	ENSP00000347667:R1072C	R	+	1	0	RYR1	43650125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	5.533000	0.67160	1.966000	0.57179	0.154000	0.16183	CGC		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			21	499	0	0	0	1	0	21	499					T	38958285	C	T	38958285	3	4	24	1	0	0	0	0	1	0	0	0	13818	768	27	1	3312	1	RYR1	19	38958285	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	4036817	38958285	20170698	69	2968											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	482						7	482	---	---	---	---	-	42753151	GAA	-	42753149	7	5	24	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-3A-A9I7-01A-21D-A38G-08	3794864	42753149	16375834	70	2969											
ZNF428	126299	broad.mit.edu	37	chr19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-													aggttccctcctcctcctctTcctcctcctcctcccgccca							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																						ENST00000300811.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(457-462)gaa>ga		zinc finger protein 428																																				SO:0001651	inframe_deletion	126299					intracellular	zinc ion binding	g.chr19:44111875_44111877delTCC	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del					SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	p.EE157del	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN			3	905_907	-		Prostate(69;0.0153)	157			Glu-rich.		O95054|Q6X3Y3	In_Frame_Del	DEL	ENST00000300811.3	37	c.459_461delGGA	CCDS12626.1																																																																																				0.66	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		7	146						7	146	---	---	---	---	-	44111877	TCC	-	44111875	7	5	24	1	0	1	0	1	0	0	0	0	17954	1783	62	0	109	0	ZNF428	19	44111875	In_Frame_Del	DEL	TCC	TCGA-3A-A9I7-01A-21D-A38G-08	1358726	44111875	15017108	71	2970											
NAPSA	9476	broad.mit.edu	37	chr19	50861863	50861863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatccgaggtccgctccgcGagtgcgagcgcgcgccaggc	15	17	0	0	rs562029819		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:50861863G>A	ENST00000253719.2	-	9	1418	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	404					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGCTCCGCGAGTGCGAGCG	0.697																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1210-1212)Cgc>Tgc		napsin A aspartic peptidase							13	15	14					19																	50861863		2195	4291	6486	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861863G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1210C>T	19.37:g.50861863G>A	ENSP00000253719:p.Arg404Cys					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R404C	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1418	-		all_neural(266;0.057)	404					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1210C>T	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887283	0.52014	.	.	ENSG00000131400	ENST00000253719	T	0.52983	0.64	3.38	2.31	0.28768	.	0.766391	0.11657	N	0.542216	T	0.39886	0.1095	L	0.38175	1.15	0.09310	N	1	D	0.56968	0.978	P	0.44477	0.451	T	0.20672	-1.0268	10	0.72032	D	0.01	.	9.1465	0.36937	0.0:0.2257:0.7743:0.0	.	404	O96009	NAPSA_HUMAN	C	404	ENSP00000253719:R404C	ENSP00000253719:R404C	R	-	1	0	NAPSA	55553675	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.090000	0.30902	0.688000	0.31529	-0.463000	0.05309	CGC		0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		6	102	0	0	0	1	0	6	102					A	50861863	G	A	50861863	3	1	24	1	0	0	0	0	1	0	0	0	10207	1058	37	1	56	1	NAPSA	19	50861863	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	6749988	50861863	8267120	72	2971											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	349						10	349	---	---	---	---	-	54675749	TCC	-	54675747	7	5	24	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-3A-A9I7-01A-21D-A38G-08	3813884	54675747	4453236	73	2972											
LILRB4	11006	broad.mit.edu	37	chr19	55179374	55179374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacgcccagctgcacagCtttaccctcagacagaaggc	8	16	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:55179374C>T	ENST00000391736.1	+	14	1566	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LILRB4_ENST00000391734.3_Silent_p.S364S|LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391733.3_Silent_p.S418S|LILRB4_ENST00000270452.2_Silent_p.S417S	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	417					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)			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)		AGCTGCACAGCTTTACCCTCA	0.622																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1249-1251)agC>agT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							91	95	93					19																	55179374		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179374C>T	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.1251C>T	19.37:g.55179374C>T						LILRB4_ENST00000270452.2_Silent_p.S417S|LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391733.3_Silent_p.S418S|LILRB4_ENST00000391734.3_Silent_p.S364S	p.S417S	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		GBM - Glioblastoma multiforme(193;0.035)	14	1566	+			417					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1251C>T	CCDS12902.1																																																																																				0.622	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			10	417	0	0	0	1	0	10	417					T	55179374	C	T	55179374	2	4	24	1	0	0	0	0	0	0	0	1	8825	796	28	2		2	LILRB4	19	55179374	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	503627	55179374	3949609	74	2973											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	58						7	58	---	---	---	---	-	47030563	GGA	-	47030561	7	5	24	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-3A-A9I7-01A-21D-A38G-08		47030561	108239999	75	2974											
FAM104B	90736	broad.mit.edu	37	chrX	55185648	55185648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgccctctttactgccatTtcttcttcttttcctgaaaa	4	12	4	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:55185648T>A	ENST00000358460.4	-	2	187	c.34A>T	c.(34-36)Aat>Tat	p.N12Y	FAM104B_ENST00000477847.2_Missense_Mutation_p.N9Y|FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000425133.2_Missense_Mutation_p.N12Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	12										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTACTGCCATTTCTTCTTCTT	0.373																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(34-36)Aat>Tat		family with sequence similarity 104, member B							124	98	107					X																	55185648		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55185648T>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.34A>T	X.37:g.55185648T>A	ENSP00000364101:p.Asn12Tyr					FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000358460.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.N9Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y	p.N12Y	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			2	72	-			12					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.34A>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	t	7.092	0.572368	0.13623	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	2.17	0.965	0.19661	.	0.258372	0.26638	U	0.023273	T	0.51244	0.1663	L	0.46157	1.445	0.09310	N	1	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.65684	0.937;0.899;0.899	T	0.37776	-0.9691	10	0.87932	D	0	-3.404	3.6048	0.08038	0.0:0.2094:0.0:0.7906	.	12;12;12	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	Y	12;12;12;12;9;11	ENSP00000364101:N12Y;ENSP00000333394:N12Y;ENSP00000397188:N12Y;ENSP00000420895:N12Y;ENSP00000421161:N9Y;ENSP00000423164:N11Y	ENSP00000333394:N12Y	N	-	1	0	FAM104B	55202373	0.757000	0.28394	0.006000	0.13384	0.126000	0.20510	0.119000	0.15626	0.181000	0.19994	0.314000	0.21332	AAT		0.373	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	174	0	0	0	1	0	4	174					A	55185648	T	A	55185648	3	1	24	1	0	0	0	0	1	0	0	0	5407	1841	64	5	429	5	FAM104B	23	55185648	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	8155087	55185648	100084912	76	2975											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	230	0	0	0	1	0	5	230					C	73811938	G	C	73811938	2	2	24	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	18626290	73811938	81458622	77	2976											
MAMLD1	10046	broad.mit.edu	37	chrX	149639651	149639651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcagcagcaAcagcagcagcagcctgacca	11	15	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77	68	71					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	213	0	0	0	1	0	5	213					G	149639651	A	G	149639651	2	3	24	1	0	0	0	0	0	0	0	1	9249	40	2	4		4	MAMLD1	23	149639651	Silent	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	75827713	149639651	5630909	78	2977											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	225						7	225	---	---	---	---	-	151303908	AGG	-	151303906	7	5	24	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-3A-A9I7-01A-21D-A38G-08	1664255	151303906	3966654	79	2978											
MRPL20	55052	broad.mit.edu	37	chr1	1337486	1337486	+	Frame_Shift_Del	DEL	A	A	-													gtggtactgcaccactctggAaaaaatgccttcaggttcct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:1337486delA	ENST00000344843.7	-	4	522	c.427delT	c.(427-429)tccfs	p.S143fs	CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000400809.3_5'Flank|MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	143					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACTCTGGAAAAAATGCCT	0.443																																						ENST00000344843.7																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(427-429)ccfs		mitochondrial ribosomal protein L20							150	144	146					1																	1337486		2203	4296	6499	SO:0001589	frameshift_variant	55052						protein binding|rRNA binding	g.chr1:1337486delA	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"Mitochondrial ribosomal proteins / large subunits"	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.427delT	1.37:g.1337486delA	ENSP00000341082:p.Ser143fs					MRPL20_ENST00000493287.1_5'UTR	p.S143fs	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	522	-	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)	143					B2RE41|B7Z746	Frame_Shift_Del	DEL	ENST00000344843.7	37	c.427delT	CCDS26.1																																																																																				0.443	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		7	1728						7	1728	---	---	---	---	-	1337486	A	-	1337486	7	5	25	1	0	1	0	1	0	0	0	0	9827	246	9	0	26	0	MRPL20	1	1337486	Frame_Shift_Del	DEL	A	TCGA-3A-A9I9-01A-11D-A38G-08		1337486	247913135	1	2979											
PUM1	9698	broad.mit.edu	37	chr1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcatcgatgagcacagCgcgctccgtacgtgaggcgt	12	14	1	2	rs371056869		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000257075.5	-	21	3376	c.3283G>A	c.(3283-3285)Gct>Act	p.A1095T	PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000373747.3_Missense_Mutation_p.A1098T|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1095	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGAGCACAGCGCGCTCCGTA	0.507																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3292-3294)Gct>Act		pumilio RNA-binding family member 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	161	122	136		3283,3289	5.8	1	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PUM1	NM_014676.2,NM_001020658.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1095/1187,1097/1189	31409636	1,13005	2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31409636C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3283G>A	1.37:g.31409636C>T	ENSP00000257075:p.Ala1095Thr					PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T	p.A1098T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3391	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1095			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3292G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261608|4.261608	0.80358|0.80358	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T;T	0.13538|0.17213	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58|2.29;2.29	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33847|0.33847	0.0877|0.0877	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P;B;B;P;P;B;P;B|.	0.39250|.	0.643;0.326;0.185;0.665;0.643;0.185;0.643;0.257|.	B;B;B;B;B;B;B;B|.	0.26614|.	0.065;0.032;0.015;0.071;0.065;0.007;0.065;0.065|.	T|T	0.00847|0.00847	-1.1542|-1.1542	10|7	0.39692|0.87932	T|D	0.17|0	-7.352|-7.352	20.0137|20.0137	0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;953;1133;1071;1095;1097;1098;1097|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	T|H	853;1095;1098;835;1097;1071;1133;953;1036;206|1033;808	ENSP00000400141:A853T;ENSP00000257075:A1095T;ENSP00000362852:A1098T;ENSP00000391723:A1097T;ENSP00000401777:A1071T;ENSP00000362846:A1133T;ENSP00000399440:A953T;ENSP00000362847:A1036T;ENSP00000431213:A206T|ENSP00000435825:R1033H;ENSP00000433850:R808H	ENSP00000257075:A1095T|ENSP00000433850:R808H	A|R	-|-	1|2	0|0	PUM1|PUM1	31182223|31182223	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.705000|0.705000	0.40729|0.40729	7.818000|7.818000	0.86416|0.86416	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			11	200	0	0	0	1	0	11	200					T	31409636	C	T	31409636	3	4	25	1	0	0	0	0	1	0	0	0	12875	768	27	1	285	1	PUM1	1	31409636	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	30072150	31409636	217840985	2	2980											
THRAP3	9967	broad.mit.edu	37	chr1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T													tgaggcggcggtcaccccgtCctagccccgtgccaaaacct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(799-801)Cct>Tct		thyroid hormone receptor associated protein 3							65	66	66					1																	36752630		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752630C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.799C>T	1.37:g.36752630C>T	ENSP00000346634:p.Pro267Ser					THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1023	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.799C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846324	0.71603	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	L	0.56769	1.78	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.00883	-1.1528	10	0.20046	T	0.44	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	S	267	ENSP00000346634:P267S;ENSP00000433825:P267S	ENSP00000346634:P267S	P	+	1	0	THRAP3	36525217	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		0.617	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		90	387	0	0	0	1	0	90	387					T	36752630	C	T	36752630	3	4	25	1	0	0	0	0	1	0	0	0	15926	855	30	2	805	2	THRAP3	1	36752630	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5342994	36752630	212497991	3	2981	18	2									
THRAP3	9967	broad.mit.edu	37	chr1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T													gaggcggcggtcaccccgtcCtagccccgtgccaaaaccta							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACCCCGTCCTAGCCCCGTG	0.617			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(799-801)cCt>cTt		thyroid hormone receptor associated protein 3							66	67	66					1																	36752631		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752631C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.800C>T	1.37:g.36752631C>T	ENSP00000346634:p.Pro267Leu					THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1024	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.800C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962964	0.74016	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.33876	0.0878	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00589	-1.1656	10	0.59425	D	0.04	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	L	267	ENSP00000346634:P267L;ENSP00000433825:P267L	ENSP00000346634:P267L	P	+	2	0	THRAP3	36525218	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		0.617	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		91	398	0	0	0	1	0	91	398					T	36752631	C	T	36752631	3	4	25	1	0	0	0	0	1	0	0	0	15926	681	24	2	806	2	THRAP3	1	36752631	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1	36752631	212497990	4	2982	18	2									
CLCC1	23155	broad.mit.edu	37	chr1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttcctctagccacagGggctgctgaccggatcctgt	13	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	549						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTAGCCACAGGGGCTGCTGAC	0.547																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1645-1647)cCc>cTc		chloride channel CLIC-like 1							76	69	72					1																	109477302		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477302G>A	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1646C>T	1.37:g.109477302G>A	ENSP00000358988:p.Pro549Leu					CLCC1_ENST00000482889.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L	p.P549L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1775	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	549					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.1646C>T	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604243	0.87157	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.81	1.51	0.23008	.	0.372474	0.23454	N	0.048004	T	0.15652	0.0377	L	0.51422	1.61	0.34281	D	0.682164	B;B;B;B	0.17667	0.008;0.008;0.023;0.01	B;B;B;B	0.16289	0.011;0.011;0.009;0.015	T	0.02868	-1.1100	10	0.72032	D	0.01	-0.2661	3.6445	0.08180	0.2808:0.0:0.5081:0.2112	.	364;428;499;549	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	L	549;549;499;428;364;499;364;428	ENSP00000349456:P549L;ENSP00000358988:P549L;ENSP00000411591:P499L;ENSP00000358986:P428L;ENSP00000358985:P364L;ENSP00000358987:P499L;ENSP00000337243:P364L;ENSP00000306552:P428L	ENSP00000306552:P428L	P	-	2	0	CLCC1	109278825	0.063000	0.20901	0.224000	0.23877	0.685000	0.39939	0.037000	0.13840	0.392000	0.25172	0.655000	0.94253	CCC		0.547	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		56	326	0	0	0	1	0	56	326					A	109477302	G	A	109477302	3	1	25	1	0	0	0	0	1	0	0	0	3469	1232	43	2	13	2	CLCC1	1	109477302	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	72724671	109477302	139773319	5	2983											
WDR3	10885	broad.mit.edu	37	chr1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagcagctatcactaccttGaagtatgatcagctaggagg	10	8	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.5	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	113						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCACTACCTTGAAGTATGATC	0.478																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(337-339)ttG>ttC		WD repeat domain 3							112	104	107					1																	118477263		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118477263G>C	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.339G>C	1.37:g.118477263G>C	ENSP00000308179:p.Leu113Phe					WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	p.L113F	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	3	386	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	113						Missense_Mutation	SNP	ENST00000349139.5	37	c.339G>C	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756898	0.69648	.	.	ENSG00000065183	ENST00000349139	T	0.64803	-0.12	5.76	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.169045	0.50627	D	0.000118	T	0.66426	0.2788	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.66712	-0.5854	10	0.72032	D	0.01	-9.5395	3.4483	0.07488	0.1398:0.2421:0.4916:0.1265	.	113	Q9UNX4	WDR3_HUMAN	F	113	ENSP00000308179:L113F	ENSP00000308179:L113F	L	+	3	2	WDR3	118278786	1.000000	0.71417	0.937000	0.37676	0.873000	0.50193	0.594000	0.24014	0.406000	0.25560	-0.150000	0.13652	TTG		0.478	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		25	394	0	0	0	1	0	25	394					C	118477263	G	C	118477263	3	2	25	1	0	0	0	0	1	0	0	0	17339	1281	45	5	345	5	WDR3	1	118477263	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8999961	118477263	130773358	6	2984											
RPTN	126638	broad.mit.edu	37	chr1	152127845	152127848	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													tatagtgggaactctggcctTgtctgtctgtctgaccataa							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:152127845_152127848delTGTC	ENST00000316073.3	-	3	1791_1794	c.1727_1730delGACA	c.(1726-1731)agacaafs	p.RQ576fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	576	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.466																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1726-1731)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127845_152127848delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1727_1730delGACA	1.37:g.152127853_152127856delTGTC	ENSP00000317895:p.Arg576fs						p.RQ576fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1791_1794	-			576			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1727_1730delGACA	CCDS41397.1																																																																																				0.466	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	2608						8	2608	---	---	---	---	-	152127848	TGTC	-	152127845	7	5	25	1	0	1	0	1	0	0	0	0	13714	1812	63	0	628	0	RPTN	1	152127845	Frame_Shift_Del	DEL	TGTC	TCGA-3A-A9I9-01A-11D-A38G-08	33650582	152127845	97122776	7	2985											
SLAMF7	57823	broad.mit.edu	37	chr1	160720196	160720197	+	Frame_Shift_Del	DEL	AG	AG	-													gctatttctttggtttctgaAgagagagagacaagaaggta							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:160720196_160720197delAG	ENST00000368043.3	+	4	789_790	c.752_753delAG	c.(751-753)aagfs	p.K251fs	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Frame_Shift_Del_p.K251fs|SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.K144fs|SLAMF7_ENST00000458602.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	251					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTTTCTGAAGAGAGAGAGAC	0.475																																						ENST00000368043.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.(751-753)afs		SLAM family member 7																																				SO:0001589	frameshift_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160720196_160720197delAG	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.752_753delAG	1.37:g.160720204_160720205delAG	ENSP00000357022:p.Lys251fs					SLAMF7_ENST00000359331.4_Frame_Shift_Del_p.K251fs|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.K144fs|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron	p.K251fs	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	789_790	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		251					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Frame_Shift_Del	DEL	ENST00000368043.3	37	c.752_753delAG	CCDS1209.1																																																																																				0.475	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		9	1005						9	1005	---	---	---	---	-	160720197	AG	-	160720196	7	5	25	1	0	1	0	1	0	0	0	0	14419	72	3	0	766	0	SLAMF7	1	160720196	Frame_Shift_Del	DEL	AG	TCGA-3A-A9I9-01A-11D-A38G-08	8592351	160720196	88530425	8	2986											
CFH	3075	broad.mit.edu	37	chr1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttcccctccttatTactatggagattcagtggaa	7	10	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	710	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCTCCTTATTACTATGGAGA	0.393																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2128-2130)Tac>Cac		complement factor H							109	109	109					1																	196695962		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196695962T>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2128T>C	1.37:g.196695962T>C	ENSP00000356399:p.Tyr710His						p.Y710H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			14	2368	+			710			Sushi 12.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2128T>C	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	T	1.622	-0.521227	0.04171	.	.	ENSG00000000971	ENST00000367429	T	0.64085	-0.08	5.8	1.14	0.20703	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29882	0.0747	N	0.01003	-1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	9	0.39692	T	0.17	.	8.5839	0.33646	0.0:0.6377:0.0:0.3623	.	710	P08603	CFAH_HUMAN	H	710	ENSP00000356399:Y710H	ENSP00000356399:Y710H	Y	+	1	0	CFH	194962585	0.017000	0.18338	0.468000	0.27192	0.386000	0.30323	-0.083000	0.11286	0.318000	0.23185	-0.250000	0.11733	TAC		0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		67	359	0	0	0	1	0	67	359					C	196695962	T	C	196695962	3	2	25	1	0	0	0	0	1	0	0	0	3292	1754	61	4	2200	4	CFH	1	196695962	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	35975766	196695962	52554659	9	2987											
LAMB3	3914	broad.mit.edu	37	chr1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcattgcggagtctacCaaagcgcagggcctgctccc	14	13	1	0	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000356082.4	-	14	1932	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000391911.1_Missense_Mutation_p.G600R|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	600	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGAGTCTACCAAAGCGCAGG	0.632																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1798-1800)Ggt>Cgt		laminin, beta 3							40	40	40					1																	209799171		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799171C>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1798G>C	1.37:g.209799171C>G	ENSP00000348384:p.Gly600Arg					LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000356082.4_Missense_Mutation_p.G600R	p.G600R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2187	-			600			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1798G>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157369	0.06544	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.34667	1.35;1.35;1.35	5.14	-3.05	0.05396	.	1.305210	0.04711	N	0.417607	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.14656	T	0.56	.	8.4291	0.32746	0.0:0.4658:0.1106:0.4235	.	600	Q13751	LAMB3_HUMAN	R	600	ENSP00000375778:G600R;ENSP00000348384:G600R;ENSP00000355997:G600R	ENSP00000348384:G600R	G	-	1	0	LAMB3	207865794	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.769000	0.01792	-0.858000	0.04110	0.456000	0.33151	GGT		0.632	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		29	164	0	0	0	1	0	29	164					G	209799171	C	G	209799171	3	3	25	1	0	0	0	0	1	0	0	0	8643	594	21	5	1760	5	LAMB3	1	209799171	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	13103209	209799171	39451450	10	2988											
PARP1	142	broad.mit.edu	37	chr1	226564885	226564886	+	Frame_Shift_Ins	INS	-	-	T													ggagtgccaagcgttcccggINSttttttcttcatataatttc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:226564885_226564886insT	ENST00000366794.5	-	13	2007_2008	c.1864_1865insA	c.(1864-1866)accfs	p.T622fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	622					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCGTTCCCGGTTTTTTCTTCA	0.475								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1864-1866)cggfs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1																																				SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226564885_226564886insT	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1865dupA	1.37:g.226564891_226564891dupT	ENSP00000355759:p.Thr622fs						p.R622fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	13	2007_2008	-	Breast(184;0.133)		622					B1ANJ4|Q8IUZ9	Frame_Shift_Ins	INS	ENST00000366794.5	37	c.1864_1865insA	CCDS1554.1																																																																																				0.475	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		7	1519						7	1519	---	---	---	---	T	226564886	-	T	226564885	7	5	25	1	0	1	1	0	0	0	0	0	11496	1261	44	0	1223	0	PARP1	1	226564885	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	16765714	226564885	22685736	11	2989											
OBSCN	84033	broad.mit.edu	37	chr1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctctgccaccctcaAgaacttccagcttctgacca	4	18	4	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000422127.1	+	97	22591	c.22547A>G	c.(22546-22548)aAg>aGg	p.K7516R	OBSCN_ENST00000570156.2_Missense_Mutation_p.K8473R|OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7516	Ig-like 55.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACCCTCAAGAACTTCCAG	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(25417-25419)aAg>aGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							91	101	97					1																	228562337		2097	4225	6322	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228562337A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22547A>G	1.37:g.228562337A>G	ENSP00000409493:p.Lys7516Arg					OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R	p.K8473R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			108	25492	+		Prostate(94;0.0405)	7516					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.25418A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954837	0.92726	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	D;D	0.82526	-1.62;-1.62	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220098	0.36628	N	0.002485	D	0.84624	0.5513	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84121	0.0406	10	0.33141	T	0.24	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	7516	Q5VST9	OBSCN_HUMAN	R	7516;5150	ENSP00000409493:K7516R;ENSP00000355668:K5150R	ENSP00000355668:K5150R	K	+	2	0	OBSCN	226628960	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.428000	0.66489	1.960000	0.56953	0.459000	0.35465	AAG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		67	451	0	0	0	1	0	67	451					G	228562337	A	G	228562337	3	3	25	1	0	0	0	0	1	0	0	0	10854	72	3	4	24139	4	OBSCN	1	228562337	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	1997452	228562337	20688284	12	2990											
OR2B11	127623	broad.mit.edu	37	chr1	247614391	247614391	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcccccttcatatctttAtttctcagggtgtaggtgaa	9	9	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATATCTTTATTTCTCAGGG	0.473																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(892-894)aaT>aaC		olfactory receptor, family 2, subfamily B, member 11							186	200	195					1																	247614391		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614391A>G		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.894T>C	1.37:g.247614391A>G							p.N298N	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	917	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	298					B2RP03	Silent	SNP	ENST00000318749.6	37	c.894T>C	CCDS31090.1																																																																																				0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		217	1029	0	0	0	1	0	217	1029					G	247614391	A	G	247614391	2	3	25	1	0	0	0	0	0	0	0	1	11030	446	16	4		4	OR2B11	1	247614391	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	19052054	247614391	1636230	13	2991											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	386						7	386	---	---	---	---	-	20482979	GCT	-	20482977	7	5	25	1	0	1	0	1	0	0	0	0	12876	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-3A-A9I9-01A-11D-A38G-08		20482977	222716396	14	2992											
TMEM214	54867	broad.mit.edu	37	chr2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggtacagaagtctttgcaaGaaaccattcagtccctcaag	8	10	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	438					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTTGCAAGAAACCATTCA	0.512																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1312-1314)Gaa>Caa		transmembrane protein 214							58	62	61					2																	27261588		2043	4181	6224	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27261588G>C		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1312G>C	2.37:g.27261588G>C	ENSP00000238788:p.Glu438Gln					TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	p.E438Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			12	1374	+			438					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1312G>C	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.239182|4.239182	0.79800|0.79800	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135|ENST00000425720	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.088644|.	0.85682|.	D|.	0.000000|.	T|T	0.74718|0.74718	0.3753|0.3753	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.67145|.	0.996;0.985|.	P;D|.	0.63113|.	0.902;0.911|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.40728|.	T|.	0.16|.	-12.2017|-12.2017	16.735|16.735	0.85444|0.85444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;438|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	Q|N	438;393;178;98|222	ENSP00000238788:E438Q;ENSP00000384417:E393Q;ENSP00000392442:E98Q|.	ENSP00000238788:E438Q|.	E|K	+|+	1|3	0|2	TMEM214|TMEM214	27115092|27115092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.607000|7.607000	0.82883|0.82883	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		9	99	0	0	0	1	0	9	99					C	27261588	G	C	27261588	3	2	25	1	0	0	0	0	1	0	0	0	16189	943	33	5	1358	5	TMEM214	2	27261588	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	6778611	27261588	215937785	15	2993											
PRKD3	23683	broad.mit.edu	37	chr2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatacatgccaaagaAtccacactctggaaactgag	7	10	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3	102					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGCCAAAGAATCCACACTCT	0.333																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(304-306)Ttc>Gtc		protein kinase D3							87	82	84					2																	37520399		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520399A>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.304T>G	2.37:g.37520399A>C	ENSP00000368356:p.Phe102Val					PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V	p.F102V			O94806	KPCD3_HUMAN			3	1066	-		all_hematologic(82;0.21)	102					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.304T>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260900	0.80246	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65549	-0.16;-0.16	5.32	4.13	0.48395	.	0.056727	0.64402	N	0.000001	T	0.62986	0.2473	L	0.47716	1.5	0.58432	D	0.999999	P;B	0.36633	0.562;0.427	P;B	0.45794	0.493;0.235	T	0.62553	-0.6830	10	0.49607	T	0.09	-12.2843	12.4041	0.55430	0.8592:0.1408:0.0:0.0	.	102;102	O94806-2;O94806	.;KPCD3_HUMAN	V	102	ENSP00000368356:F102V;ENSP00000234179:F102V	ENSP00000234179:F102V	F	-	1	0	PRKD3	37373903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	0.914000	0.36822	0.533000	0.62120	TTC		0.333	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		9	454	0	0	0	1	0	9	454					C	37520399	A	C	37520399	3	2	25	1	0	0	0	0	1	0	0	0	12567	101	4	4	2436	4	PRKD3	2	37520399	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	10258811	37520399	205678974	16	2994											
SOCS5	9655	broad.mit.edu	37	chr2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggactttcccttttagccTgcagtatatctgtcgcgcgg	10	11	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	484	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTTTAGCCTGCAGTATATC	0.398																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1450-1452)cTg>cCg		suppressor of cytokine signaling 5							89	85	87					2																	46987120		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987120T>C	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1451T>C	2.37:g.46987120T>C	ENSP00000305133:p.Leu484Pro					SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1623	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	484			SOCS box.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1451T>C	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543224	0.65198	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.94497	-3.44;-3.44	5.43	5.43	0.79202	SOCS protein, C-terminal (4);SH2 motif (1);	0.000000	0.64402	D	0.000001	D	0.98229	0.9414	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	10	0.87932	D	0	-13.9042	15.3001	0.73940	0.0:0.0:0.0:1.0	.	484	O75159	SOCS5_HUMAN	P	484	ENSP00000305133:L484P;ENSP00000378330:L484P	ENSP00000305133:L484P	L	+	2	0	SOCS5	46840624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	CTG		0.398	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			93	380	0	0	0	1	0	93	380					C	46987120	T	C	46987120	3	2	25	1	0	0	0	0	1	0	0	0	14967	1580	55	4	1453	4	SOCS5	2	46987120	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	9466721	46987120	196212253	17	2995											
SMEK2	57223	broad.mit.edu	37	chr2	55795477	55795477	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatctttaagtccaattatCcgcctcataaagcgaagggc	7	11	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000345102.5	-	13	2089	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000272313.5_Silent_p.R511R|SMEK2_ENST00000407823.3_Silent_p.R564R	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	596					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAATTATCCGCCTCATAA	0.313																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1531-1533)cgG>cgA		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							55	59	58					2																	55795477		2203	4296	6499	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55795477C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1788G>A	2.37:g.55795477C>T						SMEK2_ENST00000345102.5_Silent_p.R596R|SMEK2_ENST00000407823.3_Silent_p.R564R	p.R511R	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1860	-			574					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.1533G>A	CCDS46289.1																																																																																				0.313	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		57	284	0	0	0	1	0	57	284					T	55795477	C	T	55795477	2	4	25	1	0	0	0	0	0	0	0	1	14844	842	30	2		2	SMEK2	2	55795477	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	8808357	55795477	187403896	18	2996											
RGPD5	727851	broad.mit.edu	37	chr2	113181886	113181887	+	Splice_Site	INS	-	-	A													gaatcctttcattgacttctINSaaaaaaaaattaaaagttgt					rs375647001	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	10	895						10	895	---	---	---	---	A	113181887	-	A	113181886	8	5	25	1	0	1	1	0	0	0	1	0	13339	1536	53	0	16328	0	RGPD5	2	113181886	Splice_Site	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	57386409	113181886	130017487	19	2997											
DPP10	57628	broad.mit.edu	37	chr2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaatgggtaagcaataCcaagactgtggtaagatggt	13	4	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000409163.1_Missense_Mutation_p.T280N|DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	330						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAAGCAATACCAAGACTGTG	0.363																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(988-990)aCc>aAc		dipeptidyl-peptidase 10 (non-functional)							116	102	107					2																	116510788		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116510788C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.989C>A	2.37:g.116510788C>A	ENSP00000386565:p.Thr330Asn					DPP10_ENST00000409163.1_Missense_Mutation_p.T280N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000310323.8_Missense_Mutation_p.T323N	p.T330N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			11	1469	+			330					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.989C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190021	0.78789	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.46614	1.455	0.80722	D	1	P;D;D;P	0.76494	0.883;0.999;0.963;0.904	P;D;P;P	0.85130	0.61;0.997;0.73;0.73	T	0.27773	-1.0064	10	0.33940	T	0.23	-11.7935	17.6852	0.88255	0.0:1.0:0.0:0.0	.	323;334;326;330	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	330;280;334;323;280	ENSP00000386565:T330N;ENSP00000387038:T280N;ENSP00000376855:T334N;ENSP00000309066:T323N	ENSP00000309066:T323N	T	+	2	0	DPP10	116227258	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.299000	0.78831	2.660000	0.90430	0.650000	0.86243	ACC		0.363	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		37	255	1	0	3.62531e-18	1	3.9735e-18	37	255					A	116510788	C	A	116510788	3	1	25	1	0	0	0	0	1	0	0	0	4743	507	18	3	1202	3	DPP10	2	116510788	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	3328902	116510788	126688585	20	2998											
CCDC148	130940	broad.mit.edu	37	chr2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcgattaatttctTcagttcttctagacgctgaa	7	9	5	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	444										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTAATTTCTTCAGTTCTTCT	0.328																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1330-1332)Aag>Tag		coiled-coil domain containing 148							121	109	113					2																	159077147		2203	4300	6503	SO:0001587	stop_gained	130940							g.chr2:159077147T>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.1330A>T	2.37:g.159077147T>A	ENSP00000283233:p.Lys444*					CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*	p.K444*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			11	1643	-			444					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	ENST00000283233.5	37	c.1330A>T	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	38	7.213421	0.98139	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6426	13.8506	0.63494	0.0:0.0:0.0:1.0	.	.	.	.	X	444;453	.	ENSP00000283233:K444X	K	-	1	0	CCDC148	158785393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.843000	0.62838	2.203000	0.70933	0.460000	0.39030	AAG		0.328	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		41	314	0	0	0	1	0	41	314					A	159077147	T	A	159077147	4	1	25	1	0	0	0	0	0	1	0	0	2789	1792	62	5	461	5	CCDC148	2	159077147	Nonsense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	42566359	159077147	84122226	21	2999											
TTN	7273	broad.mit.edu	37	chr2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtcacagtcttaaatttaatCcagtcctgggtgccttcttc	7	11	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000591111.1	-	253	55373	c.55149G>C	c.(55147-55149)tgG>tgC	p.W18383C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W20024C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C			Q8WZ42	TITIN_HUMAN	titin	18383	Fibronectin type-III 33. {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)			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)			TAAATTTAATCCAGTCCTGGG	0.423																																						ENST00000589042.1																			0				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						c.(60070-60072)tgG>tgC		titin							123	116	118					2																	179456474		1867	4103	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456474C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55149G>C	2.37:g.179456474C>G	ENSP00000465570:p.Trp18383Cys					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.W20024C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60296	-			18383			Fibronectin type-III 45.		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.60072G>C		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824565	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85440	0.5697	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90151	0.4221	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10959;11084;11151;18383	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	17456;10959;11151;11084;10957	ENSP00000343764:W17456C;ENSP00000434586:W10959C;ENSP00000340554:W11151C;ENSP00000352154:W11084C	ENSP00000340554:W11151C	W	-	3	0	TTN	179164720	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	TGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	478	0	0	0	1	0	11	478					G	179456474	C	G	179456474	3	3	25	1	0	0	0	0	1	0	0	0	16789	856	30	5	48147	5	TTN	2	179456474	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	20379327	179456474	63742899	22	3000											
TTN	7273	broad.mit.edu	37	chr2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtaaggtcacgaagacCtctgataattttaatttctg	8	7	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000591111.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN_ENST00000589042.1_Missense_Mutation_p.G2538S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S			Q8WZ42	TITIN_HUMAN	titin	12861					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGAAGACCTCTGATAATT	0.353																																						ENST00000589042.1																			0				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						c.(7612-7614)Ggt>Agt		titin							38	41	40					2																	179638079		2202	4297	6499	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638079C>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.7612G>A	2.37:g.179638079C>T	ENSP00000465570:p.Gly2538Ser					TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S	p.G2538S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7836	-			2272					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.7612G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.134330	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.82	5.82	0.92795	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75079	0.3801	L	0.42581	1.335	0.28955	N	0.890175	D;D;D;D;D	0.76494	0.978;0.978;0.978;0.989;0.999	P;P;P;P;D	0.69479	0.871;0.871;0.871;0.871;0.964	T	0.70737	-0.4790	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2492;2492;2492;2538;2538	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2538;2492;2492;2492;2492;2538	ENSP00000343764:G2538S;ENSP00000434586:G2492S;ENSP00000340554:G2492S;ENSP00000352154:G2492S;ENSP00000354117:G2538S	ENSP00000340554:G2492S	G	-	1	0	TTN	179346324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.965000	0.63708	2.765000	0.95021	0.650000	0.86243	GGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	277	0	0	0	1	0	52	277					T	179638079	C	T	179638079	3	4	25	1	0	0	0	0	1	0	0	0	16789	681	24	2	103696	2	TTN	2	179638079	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	181605	179638079	63561294	23	3001											
ITGA4	3676	broad.mit.edu	37	chr2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaactaaatatcttacatGaaatgaaaggtaaaaaggta	7	3	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	296					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATCTTACATGAAATGAAAGG	0.308																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(886-888)Gaa>Caa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						106	102	104					2																	182347132		1829	4091	5920	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347132G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.886G>C	2.37:g.182347132G>C	ENSP00000380227:p.Glu296Gln						p.E296Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		8	1316	+			296					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.886G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490462	0.44249	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.14516	2.5;2.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.37697	1.125	0.52501	D	0.999957	B;D	0.54772	0.22;0.968	B;P	0.51016	0.109;0.656	T	0.02020	-1.1228	10	0.13108	T	0.6	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	296;296	E7EP60;P13612	.;ITA4_HUMAN	Q	296	ENSP00000380227:E296Q;ENSP00000233573:E296Q	ENSP00000233573:E296Q	E	+	1	0	ITGA4	182055377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.846000	0.69444	2.794000	0.96219	0.650000	0.86243	GAA		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			18	394	0	0	0	1	0	18	394					C	182347132	G	C	182347132	3	2	25	1	0	0	0	0	1	0	0	0	7908	1291	45	5	916	5	ITGA4	2	182347132	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2709053	182347132	60852241	24	3002											
SLC11A1	6556	broad.mit.edu	37	chr2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C													ggtttcagaatcccactctgGggtggcgtcctcatcaccat							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	171					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(511-513)tgG>tgC		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							110	96	100					2																	219251895		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251895G>C	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.513G>C	2.37:g.219251895G>C	ENSP00000233202:p.Trp171Cys					SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	p.W171C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	853	+		Renal(207;0.0474)	171					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.513G>C	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866221	0.71949	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70516	-0.49;-0.49	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.971;0.995;0.995	D	0.91207	0.4996	10	0.87932	D	0	-12.7329	18.8984	0.92433	0.0:0.0:1.0:0.0	.	171;53;171	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	C	171;53	ENSP00000233202:W171C;ENSP00000443435:W53C	ENSP00000233202:W171C	W	+	3	0	SLC11A1	218960139	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.007000	0.70731	2.694000	0.91930	0.655000	0.94253	TGG		0.602	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		30	229	0	0	0	1	0	30	229					C	219251895	G	C	219251895	3	2	25	1	0	0	0	0	1	0	0	0	14430	1241	43	5	535	5	SLC11A1	2	219251895	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	36904763	219251895	23947478	25	3003	19	2									
SLC11A1	6556	broad.mit.edu	37	chr2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T													tttcagaatcccactctgggGtggcgtcctcatcaccatcg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	172					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCTGGGGTGGCGTCCTC	0.602																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(514-516)gGt>gTt		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							112	97	102					2																	219251897		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251897G>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.515G>T	2.37:g.219251897G>T	ENSP00000233202:p.Gly172Val					SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	p.G172V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	855	+		Renal(207;0.0474)	172					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.515G>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765423	0.49574	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.66280	-0.2;-0.2	5.18	4.29	0.51040	.	0.066829	0.64402	D	0.000008	T	0.62307	0.2417	L	0.35341	1.055	0.80722	D	1	B;B;B	0.33739	0.016;0.422;0.422	B;P;B	0.46452	0.017;0.517;0.363	T	0.62774	-0.6783	10	0.41790	T	0.15	-6.105	14.3044	0.66375	0.0723:0.0:0.9277:0.0	.	172;54;172	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	V	172;54	ENSP00000233202:G172V;ENSP00000443435:G54V	ENSP00000233202:G172V	G	+	2	0	SLC11A1	218960141	0.998000	0.40836	0.883000	0.34634	0.757000	0.42996	2.602000	0.46257	1.380000	0.46344	0.655000	0.94253	GGT		0.602	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		29	234	1	0	3.67414e-24	1	4.07305e-24	29	234					T	219251897	G	T	219251897	3	4	25	1	0	0	0	0	1	0	0	0	14430	1261	44	3	537	3	SLC11A1	2	219251897	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2	219251897	23947476	26	3004	19	2									
CRYBA2	1412	broad.mit.edu	37	chr2	219856841	219856841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcgcagagcactggccGgaaggacagcagctggttgc	15	13	0	1	rs576572225		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219856841G>A	ENST00000295728.2	-	2	522	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W|CRYBA2_ENST00000487181.1_5'Flank	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	96	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACTGGCCGGAAGGACAGC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0					ENST00000295728.2																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(286-288)Cgg>Tgg		crystallin, beta A2							41	38	39					2																	219856841		2203	4300	6503	SO:0001583	missense	1412						structural constituent of eye lens	g.chr2:219856841G>A		CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.286C>T	2.37:g.219856841G>A	ENSP00000295728:p.Arg96Trp					CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W	p.R96W	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	522	-		Renal(207;0.0474)	96			Beta/gamma crystallin 'Greek key' 2.		Q4ZFX0|Q9Y562	Missense_Mutation	SNP	ENST00000295728.2	37	c.286C>T	CCDS2429.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299333	0.60195	.	.	ENSG00000163499	ENST00000392096;ENST00000295728;ENST00000453769	D;D;D	0.83163	-1.69;-1.69;-1.69	4.65	1.67	0.24075	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.109256	0.56097	D	0.000022	D	0.92903	0.7742	M	0.94142	3.5	0.49798	D	0.999823	D	0.89917	1.0	D	0.87578	0.998	D	0.93478	0.6825	10	0.87932	D	0	.	14.747	0.69496	0.0:0.0:0.6235:0.3765	.	96	P53672	CRBA2_HUMAN	W	96	ENSP00000375946:R96W;ENSP00000295728:R96W;ENSP00000395120:R96W	ENSP00000295728:R96W	R	-	1	2	CRYBA2	219565085	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.688000	0.37690	-0.008000	0.14320	-0.808000	0.03180	CGG		0.622	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1	NM_057093		4	132	0	0	0	1	0	4	132					A	219856841	G	A	219856841	3	1	25	1	0	0	0	0	1	0	0	0	3917	1115	39	1	319	1	CRYBA2	2	219856841	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	604944	219856841	23342532	27	3005											
CHPF	79586	broad.mit.edu	37	chr2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcaccaggaagaaccaGtcaaagtcgtcgccgtgctg	12	12	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000373891.2_Missense_Mutation_p.D193E|TMEM198_ENST00000373883.3_5'Flank|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.D31E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAAGAACCAGTCAAAGTCGT	0.672											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(577-579)gaC>gaA		chondroitin polymerizing factor							34	30	31					2																	220406647		2202	4300	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406647G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.579C>A	2.37:g.220406647G>T	ENSP00000243776:p.Asp193Glu		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E	p.D193E	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	827	-		Renal(207;0.0183)	193					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.579C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294157	0.81025	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.19394	2.15;2.44	4.41	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.02603	-1.1135	10	0.23302	T	0.38	-31.7198	9.132	0.36850	0.2372:0.0:0.7628:0.0	.	193;193	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	E	193;31;193	ENSP00000243776:D193E;ENSP00000445571:D31E	ENSP00000243776:D193E	D	-	3	2	CHPF	220114891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	0.242000	0.21303	0.549000	0.68633	GAC		0.672	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		4	87	1	0	0.000602214	1	0.000611673	4	87					T	220406647	G	T	220406647	3	4	25	1	0	0	0	0	1	0	0	0	3377	1020	36	3	1760	3	CHPF	2	220406647	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	549806	220406647	22792726	28	3006											
COL4A4	1286	broad.mit.edu	37	chr2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccagagcctgggcatgcCcagggggcaggtgggctcct	17	12	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1483	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCATGCCCAGGGGGCAG	0.577																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4447-4449)Ggc>Tgc		collagen, type IV, alpha 4							66	67	67					2																	227875104		1852	4097	5949	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227875104C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4447G>T	2.37:g.227875104C>A	ENSP00000379866:p.Gly1483Cys					COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	p.G1483C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	4654	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1483			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4447G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378418	0.61735	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95412	-3.7;-3.7	5.69	4.82	0.62117	C-type lectin fold (1);	.	.	.	.	D	0.98476	0.9492	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99433	1.0936	9	0.87932	D	0	.	14.6375	0.68699	0.0:0.9302:0.0:0.0698	.	1483	P53420	CO4A4_HUMAN	C	1483;1480	ENSP00000379866:G1483C;ENSP00000328553:G1480C	ENSP00000328553:G1480C	G	-	1	0	COL4A4	227583348	1.000000	0.71417	0.985000	0.45067	0.807000	0.45602	7.745000	0.85046	1.418000	0.47098	-0.136000	0.14681	GGC		0.577	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		45	281	1	0	5.48756e-27	1	6.15368e-27	45	281					A	227875104	C	A	227875104	3	1	25	1	0	0	0	0	1	0	0	0	3702	623	22	3	637	3	COL4A4	2	227875104	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	7468457	227875104	15324269	29	3007											
THAP4	51078	broad.mit.edu	37	chr2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctacttggataggggaCgctcactctcctcagctcat	10	13	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	402							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGATAGGGGACGCTCACTCTC	0.627																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1204-1206)Gtc>Atc		THAP domain containing 4							44	42	43					2																	242572368		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572368C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1204G>A	2.37:g.242572368C>T	ENSP00000385006:p.Val402Ile						p.V402I	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1635	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	402					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.1204G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339085	0.05243	.	.	ENSG00000176946	ENST00000407315;ENST00000512346	D	0.95554	-3.74	5.22	-10.4	0.00318	.	.	.	.	.	T	0.81064	0.4745	N	0.03608	-0.345	0.24018	N	0.996156	B	0.02656	0.0	B	0.01281	0.0	T	0.71431	-0.4595	9	0.21540	T	0.41	-1.1688	1.6018	0.02675	0.138:0.3253:0.2302:0.3065	.	402	Q8WY91	THAP4_HUMAN	I	402;77	ENSP00000385006:V402I	ENSP00000385006:V402I	V	-	1	0	THAP4	242221041	0.234000	0.23783	0.000000	0.03702	0.462000	0.32619	-0.598000	0.05706	-3.708000	0.00117	-2.089000	0.00373	GTC		0.627	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		6	91	0	0	0	1	0	6	91					T	242572368	C	T	242572368	3	4	25	1	0	0	0	0	1	0	0	0	15898	536	19	1	557	1	THAP4	2	242572368	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	14697264	242572368	627005	30	3008											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116060	15116060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttctcgttccaactcCcgttcacgcaacatctgcag	5	17	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	528	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTCCAACTCCCGTTCACGCA	0.597																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1582-1584)cgG>cgA		zinc finger, FYVE domain containing 20							105	98	100					3																	15116060		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15116060C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1584G>A	3.37:g.15116060C>T						ZFYVE20_ENST00000476527.2_Silent_p.R528R	p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2197	-			528			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.1584G>A	CCDS2623.1																																																																																				0.597	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		120	357	0	0	0	1	0	120	357					T	15116060	C	T	15116060	2	4	25	1	0	0	0	0	0	0	0	1	17719	610	22	2		2	ZFYVE20	3	15116060	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		15116060	182906370	31	3009											
SCN5A	6331	broad.mit.edu	37	chr3	38671831	38671831	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaatcttcacagccgctctCcggatggggtggaagggact	14	10	3	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000333535.4	-	3	512	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000413689.1_Silent_p.R121R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCGCTCTCCGGATGGGGT	0.557																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(361-363)cgG>cgC		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						90	96	94					3																	38671831		2072	4242	6314	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38671831C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.363G>C	3.37:g.38671831C>G						SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000333535.4_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R	p.R121R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	3	556	-	Medulloblastoma(35;0.163)		121					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.363G>C	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		46	305	0	0	0	1	0	46	305					G	38671831	C	G	38671831	2	3	25	1	0	0	0	0	0	0	0	1	13972	842	30	5		5	SCN5A	3	38671831	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	23555771	38671831	159350599	32	3010											
ZNF619	285267	broad.mit.edu	37	chr3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggccttccaccgcagttCggtatttcttcagcaccaga	8	14	2	1	rs139131960	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000314686.5	+	6	1511	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000447116.2_Missense_Mutation_p.S425L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCGCAGTTCGGTATTTCTT	0.443													c|||	4	0.000798722	0.0023	0.0	5008	,	,		21349	0.0		0.0	False		,,,				2504	0.001					ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1273-1275)tCg>tTg		zinc finger protein 619		C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	62	65	64		1274,1022,1154	1.5	0	3	dbSNP_134	64	0,8600		0,0,4300	yes	missense,missense,missense	ZNF619	NM_001145082.2,NM_001145083.1,NM_001145093.2	145,145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	425/617,341/533,385/577	40529155	2,13004	2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529155C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1106C>T	3.37:g.40529155C>T	ENSP00000322529:p.Ser369Leu					ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000314686.5_Missense_Mutation_p.S369L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L	p.S425L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1581	+			425					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1274C>T		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.811	0.715641	0.15306	4.54E-4	0.0	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	2.44	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.81179	2.53	0.09310	N	1	D;P;P;D;P;P	0.67145	0.996;0.839;0.839;0.96;0.839;0.921	P;B;B;B;B;B	0.49683	0.619;0.071;0.071;0.394;0.098;0.118	T	0.14980	-1.0453	9	0.72032	D	0.01	.	4.6774	0.12719	0.2336:0.4962:0.2702:0.0	.	341;385;425;327;376;369	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	L	369;425;385;341;376;425;385	ENSP00000322529:S369L;ENSP00000411132:S425L;ENSP00000398024:S385L;ENSP00000397232:S341L;ENSP00000428004:S376L;ENSP00000430705:S425L;ENSP00000388710:S385L	ENSP00000322529:S369L	S	+	2	0	ZNF619	40504159	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.135000	0.03225	0.342000	0.23796	0.563000	0.77884	TCG		0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		54	263	0	0	0	1	0	54	263					T	40529155	C	T	40529155	3	4	25	1	0	0	0	0	1	0	0	0	18096	893	31	1	1314	1	ZNF619	3	40529155	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1857324	40529155	157493275	33	3011											
TRAIP	10293	broad.mit.edu	37	chr3	49867474	49867474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctggggcctttgcatatCttcttggggacatcctgaat	10	10	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1063-1065)aaG>aaA		TRAF interacting protein							140	127	132					3																	49867474		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49867474C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1065G>A	3.37:g.49867474C>T						TRAIP_ENST00000469027.1_Silent_p.K200K	p.K355K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1178	-			355			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.1065G>A	CCDS2806.1																																																																																				0.532	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		8	494	0	0	0	1	0	8	494					T	49867474	C	T	49867474	2	4	25	1	0	0	0	0	0	0	0	1	16501	912	32	2		2	TRAIP	3	49867474	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	9338319	49867474	148154956	34	3012											
GPR27	2850	broad.mit.edu	37	chr3	71804286	71804286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagcccccggaccacCcaggcgacccatccctgcga	10	20	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:71804286C>A	ENST00000304411.2	+	1	1086	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	362					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCCGGACCACCCAGGCGACCC	0.647																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1084-1086)acC>acA		G protein-coupled receptor 27							11	11	11					3																	71804286		2085	4131	6216	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804286C>A	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1086C>A	3.37:g.71804286C>A							p.T362T	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	1086	+		Prostate(10;0.00899)	362						Silent	SNP	ENST00000304411.2	37	c.1086C>A	CCDS2915.1																																																																																				0.647	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		4	66	1	0	2.56e-06	1	2.67011e-06	4	66					A	71804286	C	A	71804286	2	1	25	1	0	0	0	0	0	0	0	1	6714	610	22	3		3	GPR27	3	71804286	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	21936812	71804286	126218144	35	3013											
SIDT1	54847	broad.mit.edu	37	chr3	113320452	113320452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggctctggaaatatggtgGcatctcatcccattgctgcc	10	12	2	0	rs138220562		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113320452G>C	ENST00000264852.4	+	11	1789	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	355					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAATATGGTGGCATCTCATCC	0.413																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1063-1065)Gca>Cca		SID1 transmembrane family, member 1							129	114	119					3																	113320452		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113320452G>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1063G>C	3.37:g.113320452G>C	ENSP00000264852:p.Ala355Pro					SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			11	1789	+			355					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1063G>C	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	4.852	0.158347	0.09236	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	6.17	4.37	0.52481	.	0.722817	0.12743	N	0.442876	T	0.21468	0.0517	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.11591	-1.0581	10	0.33940	T	0.23	-4.7062	9.7877	0.40686	0.0667:0.0:0.6671:0.2661	.	355;355	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	P	355	ENSP00000264852:A355P;ENSP00000377416:A355P	ENSP00000264852:A355P	A	+	1	0	SIDT1	114803142	0.002000	0.14202	0.038000	0.18304	0.115000	0.19883	1.111000	0.31159	1.607000	0.50170	-0.181000	0.13052	GCA		0.413	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		10	223	0	0	0	1	0	10	223					C	113320452	G	C	113320452	3	2	25	1	0	0	0	0	1	0	0	0	14352	1203	42	5	1105	5	SIDT1	3	113320452	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	41516166	113320452	84701978	36	3014											
GRAMD1C	54762	broad.mit.edu	37	chr3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggaaaaaactgctcgaCtcatcccaaacgctatccag	6	14	1	0	rs199735566		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AACTGCTCGACTCATCCCAAA	0.303													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18315	0.0		0.0	False		,,,				2504	0.0					ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(418-420)Ctc>Ttc		GRAM domain containing 1C		C	PHE/LEU	2,4404	4.2+/-10.8	0,2,2201	107	114	112		418	4.3	1	3		112	0,8600		0,0,4300	no	missense	GRAMD1C	NM_017577.4	22	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	140/663	113595066	2,13004	2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113595066C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.418C>T	3.37:g.113595066C>T	ENSP00000350881:p.Leu140Phe					GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.L140F	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			5	910	+			140					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.418C>T	CCDS33826.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.99	3.273860	0.59649	4.54E-4	0.0	ENSG00000178075	ENST00000358160	T	0.37584	1.19	5.2	4.33	0.51752	.	0.154190	0.40728	N	0.001026	T	0.39682	0.1087	M	0.79123	2.44	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.37888	-0.9686	10	0.59425	D	0.04	.	11.6383	0.51217	0.0:0.9126:0.0:0.0874	.	140	Q8IYS0	GRM1C_HUMAN	F	140	ENSP00000350881:L140F	ENSP00000350881:L140F	L	+	1	0	GRAMD1C	115077756	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	1.331000	0.45412	0.655000	0.94253	CTC		0.303	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		79	438	0	0	0	1	0	79	438					T	113595066	C	T	113595066	3	4	25	1	0	0	0	0	1	0	0	0	6779	565	20	2	436	2	GRAMD1C	3	113595066	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	274614	113595066	84427364	37	3015											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagatggagccctcgccgCgtaaccagcgcaaggcgctg	13	15	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	478					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCTCGCCGCGTAACCAGCG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1432-1434)Cgt>Tgt		Rho GTPase activating protein 31							66	75	72					3																	119121031		2071	4213	6284	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121031C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1432C>T	3.37:g.119121031C>T	ENSP00000264245:p.Arg478Cys						p.R478C	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			10	1964	+			478					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1432C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250570	0.80135	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.12879	2.64	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.26882	0.0658	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.00544	-1.1679	10	0.87932	D	0	.	13.1802	0.59649	0.1592:0.8408:0.0:0.0	.	478	Q2M1Z3	RHG31_HUMAN	C	478	ENSP00000264245:R478C	ENSP00000264245:R478C	R	+	1	0	ARHGAP31	120603721	0.997000	0.39634	0.444000	0.26895	0.924000	0.55760	3.505000	0.53356	2.774000	0.95407	0.655000	0.94253	CGT		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			65	369	0	0	0	1	0	65	369					T	119121031	C	T	119121031	3	4	25	1	0	0	0	0	1	0	0	0	880	768	27	1	1470	1	ARHGAP31	3	119121031	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5525965	119121031	78901399	38	3016											
EAF2	55840	broad.mit.edu	37	chr3	121573658	121573659	+	Frame_Shift_Ins	INS	-	-	A													ctcagcagcaacatcactgtINSaaaaaaaacaaggtatgtgg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:121573658_121573659insA	ENST00000273668.2	+	3	397_398	c.326_327insA	c.(325-330)gtaaaafs	p.VK109fs	EAF2_ENST00000451944.2_Frame_Shift_Ins_p.VK109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	109					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACAA	0.248																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(325-327)gaafs		ELL associated factor 2																																				SO:0001589	frameshift_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573658_121573659insA	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.334dupA	3.37:g.121573666_121573666dupA	ENSP00000273668:p.Val109fs					EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs	p.E109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	3	397_398	+			109					Q9NZ82	Frame_Shift_Ins	INS	ENST00000273668.2	37	c.326_327insA	CCDS3006.1																																																																																				0.248	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		7	625						7	625	---	---	---	---	A	121573659	-	A	121573658	7	5	25	1	0	1	1	0	0	0	0	0	4892	1638	57	0	336	0	EAF2	3	121573658	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	2452627	121573658	76448772	39	3017											
FAM194A	131831	broad.mit.edu	37	chr3	150421591	150421593	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctccacctctTcctcctcctcctcctcctct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:150421591_150421593delTCC	ENST00000295910.6	-	1	145_147	c.93_95delGGA	c.(91-96)gaggaa>gaa	p.31_32EE>E	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctccacctcttcctcctcctcct	0.635																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(91-96)gaa>ga		family with sequence similarity 194, member A				43,34,4189		6,0,31,0,34,2062						-0.2	0			67	69,1,8182		12,0,45,0,1,4068	no	codingComplex	FAM194A	NM_152394.3		18,0,76,0,35,6130	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8483,1.805,1.1743				112,35,12371				SO:0001651	inframe_deletion	131831							g.chr3:150421591_150421593delTCC																												ENST00000295910.6:c.93_95delGGA	3.37:g.150421600_150421602delTCC	ENSP00000295910:p.Glu33del					RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_5'UTR	p.EE31del	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			1	145_147	-			31			Glu-rich.			In_Frame_Del	DEL	ENST00000295910.6	37	c.93_95delGGA	CCDS3151.2																																																																																				0.635	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			7	105						7	105	---	---	---	---	-	150421593	TCC	-	150421591	7	5	25	1	0	1	0	1	0	0	0	0	5547	1783	62	0	1952	0	FAM194A	3	150421591	In_Frame_Del	DEL	TCC	TCGA-3A-A9I9-01A-11D-A38G-08	28847933	150421591	47600839	40	3018											
DHX36	170506	broad.mit.edu	37	chr3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtaaatcttccaataAtttttggtctaaagttccat	4	7	2	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	184					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCCAATAATTTTTGGTCT	0.289																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(550-552)Tta>Gta		DEAH (Asp-Glu-Ala-His) box polypeptide 36							48	51	50					3																	154032888		2199	4298	6497	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032888A>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.550T>G	3.37:g.154032888A>C	ENSP00000417078:p.Leu184Val					DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V|DHX36_ENST00000308361.6_Missense_Mutation_p.L184V	p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	630	-			184					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.550T>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854682	0.32791	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.64	2.36	0.29203	.	0.000000	0.64402	D	0.000001	T	0.08537	0.0212	L	0.36672	1.1	0.46774	D	0.999197	P;P;B	0.41313	0.573;0.745;0.251	B;B;B	0.37550	0.18;0.253;0.095	T	0.18116	-1.0347	10	0.51188	T	0.08	.	9.201	0.37258	0.2292:0.0:0.7708:0.0	.	184;184;184	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	184;184;184;184;98	ENSP00000417078:L184V;ENSP00000309296:L184V;ENSP00000444247:L184V;ENSP00000330113:L184V;ENSP00000419862:L98V	ENSP00000309296:L184V	L	-	1	2	DHX36	155515582	0.980000	0.34600	0.395000	0.26283	0.968000	0.65278	1.368000	0.34216	0.114000	0.18032	0.472000	0.43445	TTA		0.289	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		56	293	0	0	0	1	0	56	293					C	154032888	A	C	154032888	3	2	25	1	0	0	0	0	1	0	0	0	4525	98	4	4	2568	4	DHX36	3	154032888	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	3611297	154032888	43989542	41	3019											
GHSR	2693	broad.mit.edu	37	chr3	172165640	172165640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaagggtcggtgccGttctcgtgctccaccccgac	12	16	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:172165640G>A	ENST00000241256.2	-	1	606	c.564C>T	c.(562-564)aaC>aaT	p.N188N	GHSR_ENST00000427970.1_Silent_p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	188					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)			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)			GGTCGGTGCCGTTCTCGTGCT	0.637																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				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						c.(562-564)aaC>aaT		growth hormone secretagogue receptor							46	42	43					3																	172165640		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:172165640G>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.564C>T	3.37:g.172165640G>A						GHSR_ENST00000427970.1_Silent_p.N188N	p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	606	-	Ovarian(172;0.00143)|Breast(254;0.197)		188					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.564C>T	CCDS3218.1																																																																																				0.637	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		4	165	0	0	0	1	0	4	165					A	172165640	G	A	172165640	2	1	25	1	0	0	0	0	0	0	0	1	6404	1136	40	1		1	GHSR	3	172165640	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	18132752	172165640	25856790	42	3020											
ETV5	2119	broad.mit.edu	37	chr3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccctggcatgcccgGgaccccatgttcatagagtg	15	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000434744.1_Missense_Mutation_p.P276A|ETV5_ENST00000480706.1_5'Flank|ETV5_ENST00000537818.1_Missense_Mutation_p.P318A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATGCCCGGGACCCCATGT	0.552			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(826-828)Ccg>Gcg		ets variant 5							74	84	80					3																	185783686		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185783686G>C	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.826C>G	3.37:g.185783686G>C	ENSP00000306894:p.Pro276Ala					ETV5_ENST00000434744.1_Missense_Mutation_p.P276A|ETV5_ENST00000537818.1_Missense_Mutation_p.P318A	p.P276A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		8	1072	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		276					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.826C>G	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738599	0.30774	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.24151	1.87;1.87;1.87	6.17	4.36	0.52297	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.053049	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.42954	D	0.994381	B;B	0.14438	0.01;0.008	B;B	0.16289	0.015;0.013	T	0.05321	-1.0892	10	0.37606	T	0.19	.	9.3211	0.37964	0.0734:0.0:0.7838:0.1428	.	276;318	P41161;B7Z7D7	ETV5_HUMAN;.	A	276;276;318	ENSP00000306894:P276A;ENSP00000413755:P276A;ENSP00000441737:P318A	ENSP00000306894:P276A	P	-	1	0	ETV5	187266380	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.446000	0.52928	0.907000	0.36646	0.655000	0.94253	CCG		0.552	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		24	420	0	0	0	1	0	24	420					C	185783686	G	C	185783686	3	2	25	1	0	0	0	0	1	0	0	0	5300	1232	43	5	730	5	ETV5	3	185783686	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	13618046	185783686	12238744	43	3021											
MFSD7	84179	broad.mit.edu	37	chr4	678335	678335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagaagctggcagagatcccGatcattccccccaagcacac	9	15	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000404286.2	-	6	795	c.780C>G	c.(778-780)atC>atG	p.I260M	MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000322224.4_Missense_Mutation_p.I259M|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	260					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAGATCCCGATCATTCCCC	0.642											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(775-777)atC>atG		major facilitator superfamily domain containing 7							99	100	100					4																	678335		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:678335G>C	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.780C>G	4.37:g.678335G>C	ENSP00000384616:p.Ile260Met		OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	590	MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M	p.I259M			Q6UXD7	MFSD7_HUMAN			6	1090	-			260					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.777C>G		.	.	.	.	.	.	.	.	.	.	G	9.541	1.113390	0.20795	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	T;T;T;T;T;T	0.58358	0.34;0.45;0.45;0.34;0.45;0.45	4.73	-6.09	0.02145	Major facilitator superfamily domain, general substrate transporter (1);	0.365001	0.28011	N	0.016960	T	0.53334	0.1790	L	0.55103	1.725	0.09310	N	1	D;D;D;P;D	0.58970	0.98;0.984;0.968;0.906;0.975	P;P;P;P;P	0.59171	0.853;0.777;0.841;0.77;0.639	T	0.55147	-0.8186	10	0.42905	T	0.14	-14.7166	9.9496	0.41631	0.7043:0.1275:0.1682:0.0	.	195;163;141;260;259	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	M	141;259;260;163;195;196	ENSP00000307545:I141M;ENSP00000320234:I259M;ENSP00000384616:I260M;ENSP00000423204:I163M;ENSP00000425753:I195M;ENSP00000424556:I196M	ENSP00000320234:I259M	I	-	3	3	MFSD7	668335	0.041000	0.20044	0.000000	0.03702	0.002000	0.02628	-0.702000	0.05069	-1.401000	0.02058	0.460000	0.39030	ATC		0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		73	423	0	0	0	1	0	73	423					C	678335	G	C	678335	3	2	25	1	0	0	0	0	1	0	0	0	9578	1048	37	5	922	5	MFSD7	4	678335	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		678335	190475941	44	3022											
NCAPG	64151	broad.mit.edu	37	chr4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggactaatcaggaatgctttGaagaagcttttcttccaacc	8	9	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	771					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGAATGCTTTGAAGAAGCTTT	0.358																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2311-2313)Gaa>Caa		non-SMC condensin I complex, subunit G							150	150	150					4																	17839269		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17839269G>C	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2311G>C	4.37:g.17839269G>C	ENSP00000251496:p.Glu771Gln						p.E771Q	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	16	2487	+			771					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2311G>C	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257970	0.80246	.	.	ENSG00000109805	ENST00000251496	T	0.31769	1.48	5.55	4.71	0.59529	Armadillo-type fold (1);	0.044582	0.85682	D	0.000000	T	0.54565	0.1866	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.56517	-0.7966	10	0.45353	T	0.12	-21.4946	14.1271	0.65228	0.0721:0.0:0.9279:0.0	.	771	Q9BPX3	CND3_HUMAN	Q	771	ENSP00000251496:E771Q	ENSP00000251496:E771Q	E	+	1	0	NCAPG	17448367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.813000	0.91963	1.339000	0.45563	0.591000	0.81541	GAA		0.358	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		109	642	0	0	0	1	0	109	642					C	17839269	G	C	17839269	3	2	25	1	0	0	0	0	1	0	0	0	10249	1291	45	5	2373	5	NCAPG	4	17839269	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	17160934	17839269	173315007	45	3023											
FAM114A1	92689	broad.mit.edu	37	chr4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgtcagtagatgtggCaaaagtgtccgaagaagaaa	14	5	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	408						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTAGATGTGGCAAAAGTGTCC	0.453																																						ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1222-1224)gCa>gTa		family with sequence similarity 114, member A1							96	93	94					4																	38933133		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38933133C>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1223C>T	4.37:g.38933133C>T	ENSP00000351740:p.Ala408Val					FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	p.A408V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			11	1399	+			408					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.1223C>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746323	0.15710	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.22743	1.94;2.92	6.07	3.04	0.35103	.	1.106540	0.06528	N	0.740982	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.02654	T	1	-0.0049	7.2024	0.25889	0.1269:0.6457:0.0:0.2274	.	201;408	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	V	201;408;201	ENSP00000424115:A201V;ENSP00000351740:A408V	ENSP00000347569:A201V	A	+	2	0	FAM114A1	38609528	0.600000	0.26899	0.002000	0.10522	0.268000	0.26511	1.217000	0.32455	0.907000	0.36646	0.655000	0.94253	GCA		0.453	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		8	183	0	0	0	1	0	8	183					T	38933133	C	T	38933133	3	4	25	1	0	0	0	0	1	0	0	0	5424	710	25	2	1257	2	FAM114A1	4	38933133	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	21093864	38933133	152221143	46	3024											
ALB	213	broad.mit.edu	37	chr4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcacagaatccttggTgaacaggcgaccatgctttt	10	10	0	2	rs571711778		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000503124.1	+	10	1274	c.1067T>C	c.(1066-1068)gTg>gCg	p.V356A	ALB_ENST00000295897.4_Missense_Mutation_p.V506A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V506A			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATCCTTGGTGAACAGGCGA	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.001					ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1516-1518)gTg>gCg		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						119	111	114					4																	74283893		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283893T>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1067T>C	4.37:g.74283893T>C	ENSP00000421027:p.Val356Ala					ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000503124.1_Missense_Mutation_p.V356A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000505649.1_3'UTR	p.V506A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1606	+	Breast(15;0.00102)		506			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1517T>C		.	.	.	.	.	.	.	.	.	.	T	0.009	-1.808861	0.00606	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.94	2.26	0.28386	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.507607	0.19058	N	0.123858	T	0.34048	0.0884	N	0.12471	0.22	0.28162	N	0.928932	B;B;B;B;B	0.23128	0.08;0.001;0.006;0.001;0.002	B;B;B;B;B	0.31495	0.131;0.034;0.069;0.017;0.034	T	0.33317	-0.9873	10	0.87932	D	0	-9.8227	7.1945	0.25845	0.0:0.3801:0.0:0.6199	.	391;314;356;506;506	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	A	506;314;293;356;506;391;515	ENSP00000295897:V506A;ENSP00000401820:V314A;ENSP00000421027:V356A;ENSP00000422784:V506A;ENSP00000384695:V391A	ENSP00000295897:V506A	V	+	2	0	ALB	74502757	0.993000	0.37304	0.762000	0.31397	0.006000	0.05464	1.347000	0.33975	0.503000	0.28060	-0.297000	0.09499	GTG		0.448	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		76	468	0	0	0	1	0	76	468					C	74283893	T	C	74283893	3	2	25	1	0	0	0	0	1	0	0	0	486	1696	59	4	1563	4	ALB	4	74283893	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	35350760	74283893	116870383	47	3025											
IBSP	3381	broad.mit.edu	37	chr4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcatccgaagaaaatGgagatgacagttcagaagag	12	6	2	6			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	71	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CGAAGAAAATGGAGATGACAG	0.348																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(211-213)Gga>Tga		integrin-binding sialoprotein							79	82	81					4																	88727301		2203	4300	6503	SO:0001587	stop_gained	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88727301G>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.211G>T	4.37:g.88727301G>T	ENSP00000226284:p.Gly71*						p.G71*	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	5	278	+		Hepatocellular(203;0.114)	71			Asp/Glu-rich (acidic).			Nonsense_Mutation	SNP	ENST00000226284.5	37	c.211G>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856098	0.97030	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.71	5.71	0.89125	.	0.190255	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.9553	0.86257	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000226284:G71X	G	+	1	0	IBSP	88946325	0.998000	0.40836	0.988000	0.46212	0.981000	0.71138	3.591000	0.53986	2.861000	0.98227	0.650000	0.86243	GGA		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			31	168	1	0	1.61788e-16	1	1.76331e-16	31	168					T	88727301	G	T	88727301	4	4	25	1	0	0	0	0	0	1	0	0	7505	1349	47	3	225	3	IBSP	4	88727301	Nonsense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	14443408	88727301	102426975	48	3026											
DAPP1	27071	broad.mit.edu	37	chr4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaccaattcggatcctaGacctaacagaatgttcagct	7	11	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000512369.1	+	7	693	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000296414.7_Missense_Mutation_p.D209H	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCGGATCCTAGACCTAACAGA	0.303																																						ENST00000296414.7																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(625-627)Gac>Cac		dual adaptor of phosphotyrosine and 3-phosphoinositides							75	74	74					4																	100784951		1807	4072	5879	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100784951G>C	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.625G>C	4.37:g.100784951G>C	ENSP00000423602:p.Asp209His					DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H	p.D209H			Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	7	706	+			209			PH.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.625G>C	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032235	0.75504	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.76709	-1.04;-1.04	5.72	4.88	0.63580	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045133	0.85682	D	0.000000	D	0.87341	0.6153	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	D	0.88675	0.3198	10	0.72032	D	0.01	-19.8161	13.5784	0.61888	0.076:0.0:0.9239:0.0	.	209;209	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	H	209	ENSP00000296414:D209H;ENSP00000423602:D209H	ENSP00000296414:D209H	D	+	1	0	DAPP1	101003974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.093000	0.64517	1.410000	0.46936	0.655000	0.94253	GAC		0.303	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			15	76	0	0	0	1	0	15	76					C	100784951	G	C	100784951	3	2	25	1	0	0	0	0	1	0	0	0	4250	942	33	5	651	5	DAPP1	4	100784951	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	12057650	100784951	90369325	49	3027											
AIMP1	9255	broad.mit.edu	37	chr4	107252827	107252827	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccattcataaatactttttAggagagaagaaggagaaaaa	8	5	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000442366.1	+	5	443		c.e5-1		AIMP1_ENST00000394701.4_Splice_Site|AIMP1_ENST00000358008.3_Splice_Site	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AATACTTTTTAGGAGAGAAGA	0.358																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.e5-1		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							66	71	70					4																	107252827		2200	4298	6498	SO:0001630	splice_region_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252827A>G	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.392-1A>G	4.37:g.107252827A>G						AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000442366.1_Splice_Site		NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			5	504	+								B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Splice_Site	SNP	ENST00000442366.1	37		CCDS3674.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124201	0.37533	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1091	0.72340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIMP1	107472276	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.339000	0.65953	1.979000	0.57680	0.528000	0.53228	.		0.358	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757	Intron	5	311	0	0	0	1	0	5	311					G	107252827	A	G	107252827	5	3	25	1	0	0	0	0	0	0	1	0	433	434	15	4	480	4	AIMP1	4	107252827	Splice_Site	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	6467876	107252827	83901449	50	3028											
FAT1	2195	broad.mit.edu	37	chr4	187524664	187524664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcgttcctcctcacAcccaggatgttccgtaaagc	8	13	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3672					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTCCTCACACCCAGGATGT	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11014-11016)ggT>ggC		FAT atypical cadherin 1							59	63	61					4																	187524664		2082	4226	6308	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524664A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11016T>C	4.37:g.187524664A>G		HNSCC(5;0.00058)					p.G3672G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			19	11225	-			3672						Silent	SNP	ENST00000441802.2	37	c.11016T>C	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		23	126	0	0	0	1	0	23	126					G	187524664	A	G	187524664	2	3	25	1	0	0	0	0	0	0	0	1	5714	146	6	4		4	FAT1	4	187524664	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	80271837	187524664	3629612	51	3029											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		11	205						11	205	---	---	---	---	-	1879671	CCT	-	1879669	7	5	25	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-3A-A9I9-01A-11D-A38G-08		1879669	179035591	52	3030											
PDE8B	8622	broad.mit.edu	37	chr5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgccagacggaaatccGgggacagcatccaacagcac	10	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ACGGAAATCCGGGGACAGCAT	0.502																																						ENST00000264917.5																		GMDS/PDE8B(2)	1	Substitution - Missense(1)	p.G352R(1)	skin(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1054-1056)Ggg>Agg		phosphodiesterase 8B							122	113	116					5																	76646926		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76646926G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1054G>A	5.37:g.76646926G>A	ENSP00000264917:p.Gly352Arg					PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R	p.G352R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	9	1099	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	352					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1054G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	D;D;D;D;T	0.87179	-2.22;-2.22;-2.22;-2.22;-0.39	5.39	5.39	0.77823	PAS (1);PAS fold (1);	0.588962	0.18116	N	0.151194	D	0.96021	0.8704	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.988;0.984;0.993	D	0.96973	0.9710	10	0.62326	D	0.03	.	17.9374	0.89017	0.0:0.0:1.0:0.0	.	305;352;332;352	O95263-6;O95263-3;O95263-4;O95263	.;.;.;PDE8B_HUMAN	R	305;352;332;352;114	ENSP00000345446:G305R;ENSP00000264917:G352R;ENSP00000345646:G332R;ENSP00000331336:G352R;ENSP00000422861:G114R	ENSP00000264917:G352R	G	+	1	0	PDE8B	76682682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.494000	0.97962	2.528000	0.85240	0.563000	0.77884	GGG		0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		13	82	0	0	0	1	0	13	82					A	76646926	G	A	76646926	3	1	25	1	0	0	0	0	1	0	0	0	11696	1116	39	1	1088	1	PDE8B	5	76646926	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	74767257	76646926	104268334	53	3031											
PCDHB2	56133	broad.mit.edu	37	chr5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcgaatccatccagaCatacacagtaaatattcagg	7	9	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	316	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)			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)			TCCATCCAGACATACACAGTA	0.423																																						ENST00000194155.4																			0				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						c.(946-948)aCa>aTa									94	96	95					5																	140475321		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475321C>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.947C>T	5.37:g.140475321C>T	ENSP00000194155:p.Thr316Ile						p.T316I	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1095	+			316			Cadherin 3.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.947C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.170	-0.390128	0.04932	.	.	ENSG00000112852	ENST00000194155	T	0.52057	0.68	5.38	0.0927	0.14474	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.31420	0.0796	L	0.38733	1.17	0.09310	N	1	B	0.22541	0.071	B	0.21546	0.035	T	0.22556	-1.0213	9	0.23302	T	0.38	.	4.5758	0.12232	0.3845:0.2605:0.2888:0.0662	.	316	Q9Y5E7	PCDB2_HUMAN	I	316	ENSP00000194155:T316I	ENSP00000194155:T316I	T	+	2	0	PCDHB2	140455505	0.000000	0.05858	0.135000	0.22099	0.049000	0.14656	-3.545000	0.00435	0.020000	0.15106	0.650000	0.86243	ACA		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		47	300	0	0	0	1	0	47	300					T	140475321	C	T	140475321	3	4	25	1	0	0	0	0	1	0	0	0	11584	478	17	2	949	2	PCDHB2	5	140475321	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	63828395	140475321	40439939	54	3032											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagaatgcacccattgGtactctgctgctccgcctca	8	16	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCATTGGTACTCTGCTG	0.517																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(772-774)gGt>gAt									177	177	177					5																	140869580		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869580G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.773G>A	5.37:g.140869580G>A	ENSP00000252087:p.Gly258Asp					PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.G258D	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	773	+			258			Cadherin 3.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.773G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638018	0.29157	.	.	ENSG00000240764	ENST00000252087	T	0.04454	3.62	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.13286	0.0322	M	0.66506	2.035	0.58432	D	0.999995	B;P	0.48294	0.311;0.908	B;P	0.51777	0.334;0.679	T	0.00032	-1.2273	10	0.51188	T	0.08	.	13.4893	0.61386	0.0718:0.0:0.9282:0.0	.	258;258	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	D	258	ENSP00000252087:G258D	ENSP00000252087:G258D	G	+	2	0	PCDHGC5	140849764	1.000000	0.71417	0.569000	0.28460	0.003000	0.03518	5.776000	0.68924	2.890000	0.99128	0.655000	0.94253	GGT		0.517	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		109	571	0	0	0	1	0	109	571					A	140869580	G	A	140869580	3	1	25	1	0	0	0	0	1	0	0	0	11613	1261	44	2	775	2	PCDHGC5	5	140869580	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	394259	140869580	40045680	55	3033											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcccgcagccgctcaagctCtggctcttcaccctgccact	7	19	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	856					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTCAAGCTCTGGCTCTTCA	0.637																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2566-2568)tCt>tGt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							59	66	64					5																	149216585		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216585C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2567C>G	5.37:g.149216585C>G	ENSP00000312649:p.Ser856Cys					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C	p.S856C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2599	+			856					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2567C>G	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013777	0.75161	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.8	5.8	0.92144	.	0.619197	0.15973	N	0.235681	T	0.72277	0.3440	M	0.62723	1.935	0.52501	D	0.999955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.999	T	0.71859	-0.4465	10	0.72032	D	0.01	-20.0049	18.2397	0.89963	0.0:1.0:0.0:0.0	.	835;835;817;856;856	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	C	817;856;856;792	ENSP00000353638:S817C;ENSP00000377855:S856C;ENSP00000312649:S856C;ENSP00000384403:S792C	ENSP00000312649:S856C	S	+	2	0	PPARGC1B	149196778	0.997000	0.39634	0.975000	0.42487	0.977000	0.68977	3.862000	0.56009	2.747000	0.94245	0.462000	0.41574	TCT		0.637	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		61	414	0	0	0	1	0	61	414					G	149216585	C	G	149216585	3	3	25	1	0	0	0	0	1	0	0	0	12343	913	32	5	2604	5	PPARGC1B	5	149216585	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	8347005	149216585	31698675	56	3034											
DRD1	1812	broad.mit.edu	37	chr5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttgggggtcatctttctCtcataccggaaagggctgga	13	10	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCATCTTTCTCTCATACCGGA	0.542																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(394-396)gaG>gaC		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						105	110	108					5																	174869707		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869707C>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.396G>C	5.37:g.174869707C>G	ENSP00000377353:p.Glu132Asp						p.E132D	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1388	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	132					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.396G>C	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172325	0.38315	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.72505	-0.66	5.55	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.046619	0.85682	D	0.000000	T	0.81079	0.4748	M	0.82517	2.595	0.51233	D	0.999911	D	0.60575	0.988	P	0.61722	0.893	T	0.81150	-0.1064	10	0.62326	D	0.03	.	8.8539	0.35217	0.0:0.772:0.0:0.228	.	132	P21728	DRD1_HUMAN	D	132	ENSP00000377353:E132D	ENSP00000327652:E132D	E	-	3	2	DRD1	174802313	1.000000	0.71417	0.978000	0.43139	0.401000	0.30781	1.935000	0.40173	0.819000	0.34492	0.655000	0.94253	GAG		0.542	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		57	298	0	0	0	1	0	57	298					G	174869707	C	G	174869707	3	3	25	1	0	0	0	0	1	0	0	0	4772	912	32	5	948	5	DRD1	5	174869707	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	25653122	174869707	6045553	57	3035											
RREB1	6239	broad.mit.edu	37	chr6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatttggccactcccagcGaagccaagaagcctgaggag	13	11	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000349384.6	+	10	3177	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000334984.6_Missense_Mutation_p.E955K|RREB1_ENST00000379938.2_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	955					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACTCCCAGCGAAGCCAAGAA	0.617																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2863-2865)Gaa>Aaa		ras responsive element binding protein 1							28	30	30					6																	7231195		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231195G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2863G>A	6.37:g.7231195G>A	ENSP00000305560:p.Glu955Lys					RREB1_ENST00000334984.6_Missense_Mutation_p.E955K|RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K	p.E955K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3400	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	955					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2863G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404290	0.25378	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.87;2.88;2.76	4.75	3.88	0.44766	.	0.198485	0.34025	N	0.004340	T	0.03959	0.0111	L	0.40543	1.245	0.30128	N	0.805065	P;P;D	0.56035	0.954;0.956;0.974	B;B;P	0.47251	0.374;0.27;0.542	T	0.11792	-1.0573	10	0.07325	T	0.83	-13.4013	12.3157	0.54955	0.0:0.0:0.6923:0.3077	.	955;955;955	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	955	ENSP00000369265:E955K;ENSP00000369270:E955K;ENSP00000305560:E955K;ENSP00000335574:E955K	ENSP00000335574:E955K	E	+	1	0	RREB1	7176194	0.988000	0.35896	0.020000	0.16555	0.182000	0.23217	2.986000	0.49370	1.194000	0.43101	0.655000	0.94253	GAA		0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			17	85	0	0	0	1	0	17	85					A	7231195	G	A	7231195	3	1	25	1	0	0	0	0	1	0	0	0	13729	1059	37	1	2889	1	RREB1	6	7231195	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		7231195	163883872	58	3036											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	1339						7	1339	---	---	---	---	-	27420810	T	-	27420810	7	5	25	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	20189615	27420810	143694257	59	3037											
TCTE1	202500	broad.mit.edu	37	chr6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccacatctgacaggcGcaagtcaaattccaggaggg	13	11	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:44248064G>A	ENST00000371505.4	-	5	1482	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	454										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.582																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1360-1362)Cgc>Tgc		t-complex-associated-testis-expressed 1							90	86	88					6																	44248064		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44248064G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1360C>T	6.37:g.44248064G>A	ENSP00000360560:p.Arg454Cys					TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C	p.R454C	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1482	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		454					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1360C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205354	0.58234	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.58506	0.58;0.33;0.33	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	L	0.59436	1.845	0.38815	D	0.955503	D	0.89917	1.0	D	0.91635	0.999	T	0.68727	-0.5332	10	0.62326	D	0.03	-36.3572	13.806	0.63233	0.0:0.0:0.8458:0.1542	.	454	Q5JU00	TCTE1_HUMAN	C	454;151;151	ENSP00000360560:R454C;ENSP00000360558:R151C;ENSP00000360559:R151C	ENSP00000360558:R151C	R	-	1	0	TCTE1	44356042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.356000	0.59430	2.408000	0.81797	0.563000	0.77884	CGC		0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		49	274	0	0	0	1	0	49	274					A	44248064	G	A	44248064	3	1	25	1	0	0	0	0	1	0	0	0	15769	1087	38	1	149	1	TCTE1	6	44248064	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	16827254	44248064	126867003	60	3038											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111913040	111913040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagaacttgagtgcGcaggcaggtgacctgccggg	15	12	0	3	rs376682410		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:111913040G>A	ENST00000340026.6	-	3	871	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	93	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.R93C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ACTTGAGTGCGCAGGCAGGTG	0.557																																						ENST00000368761.5																			1	Substitution - Missense(1)	p.R93C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(250-252)Cgc>Tgc		TRAF3 interacting protein 2		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70	72	71		250,250	4.2	0.7	6		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRAF3IP2	NM_147686.2,NM_001164281.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	84/566,84/565	111913040	1,13005	2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913040G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.277C>T	6.37:g.111913040G>A	ENSP00000345984:p.Arg93Cys					TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.R93C	p.R84C	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	728	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	93					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.250C>T		.	.	.	.	.	.	.	.	.	.	G	12.60	1.985764	0.35036	0.0	1.16E-4	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.50548	0.77;0.76;0.74	5.91	4.16	0.48862	.	0.000000	0.64402	D	0.000005	T	0.29190	0.0726	M	0.66939	2.045	0.80722	D	1	B;B;B	0.17268	0.012;0.021;0.002	B;B;B	0.15870	0.006;0.014;0.0	T	0.26258	-1.0108	10	0.87932	D	0	-22.4043	9.2352	0.37461	0.1654:0.0:0.8346:0.0	.	93;84;84	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	C	93;84;93;84	ENSP00000357750:R84C;ENSP00000345984:R93C;ENSP00000352889:R84C	ENSP00000345984:R93C	R	-	1	0	TRAF3IP2	112019733	0.008000	0.16893	0.686000	0.30086	0.757000	0.42996	0.835000	0.27531	0.859000	0.35456	-0.263000	0.10527	CGC		0.557	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			5	345	0	0	0	1	0	5	345					A	111913040	G	A	111913040	3	1	25	1	0	0	0	0	1	0	0	0	16494	1087	38	1	1479	1	TRAF3IP2	6	111913040	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	67664976	111913040	59202027	61	3039											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			7	562						7	562	---	---	---	---	-	131919846	T	-	131919846	7	5	25	1	0	1	0	1	0	0	0	0	9482	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	20006806	131919846	39195221	62	3040											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaacatcctggcctgccGcagcgaggagctctgcatgg	13	13	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	728	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTGGCCTGCCGCAGCGAGGAG	0.657			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(2182-2184)cGc>cAc		tumor necrosis factor, alpha-induced protein 3							45	52	50					6																	138202266		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138202266G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2183G>A	6.37:g.138202266G>A	ENSP00000237289:p.Arg728His						p.R728H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	9	2249	+	Breast(32;0.135)|Colorectal(23;0.24)		728			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.2183G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621768	0.96660	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.46819	0.86	5.67	5.67	0.87782	Zinc finger, A20-type (3);	0.253340	0.44902	D	0.000405	T	0.50786	0.1636	L	0.48642	1.525	0.53005	D	0.999965	D	0.58620	0.983	P	0.57283	0.817	T	0.50056	-0.8872	10	0.56958	D	0.05	-19.7323	17.9431	0.89031	0.0:0.0:1.0:0.0	.	728	P21580	TNAP3_HUMAN	H	728	ENSP00000237289:R728H	ENSP00000237289:R728H	R	+	2	0	TNFAIP3	138243959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.673000	0.90976	0.563000	0.77884	CGC		0.657	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			6	372	0	0	0	1	0	6	372					A	138202266	G	A	138202266	3	1	25	1	0	0	0	0	1	0	0	0	16326	1087	38	1	2213	1	TNFAIP3	6	138202266	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	6282420	138202266	32912801	63	3041											
OSBPL3	26031	broad.mit.edu	37	chr7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-													atcaatgcagccatgcagctTctctctctctatctgcagag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.5	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			8	514						8	514	---	---	---	---	-	24910453	TC	-	24910452	7	5	25	1	0	1	0	1	0	0	0	0	11321	1792	62	0	2459	0	OSBPL3	7	24910452	Frame_Shift_Del	DEL	TC	TCGA-3A-A9I9-01A-11D-A38G-08		24910452	134228211	64	3042											
AMPH	273	broad.mit.edu	37	chr7	38502605	38502605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgaggccgtgctggtgcGggagacgcaggtgctaatgt	18	9	0	1	rs372756485		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000325590.5_Silent_p.P286P|AMPH_ENST00000428293.2_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(856-858)ccC>ccT		amphiphysin		G	,	0,4406		0,0,2203	162	152	155		858,858	-4.6	1	7		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	286/696,286/654	38502605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502605G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.858C>T	7.37:g.38502605G>A						AMPH_ENST00000428293.2_Silent_p.P286P|AMPH_ENST00000325590.5_Silent_p.P286P	p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			10	1073	-			286					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.858C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713694	0.15306	0.0	1.16E-4	ENSG00000078053	ENST00000441628	.	.	.	6.17	-4.56	0.03431	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37502	-0.9703	4	.	.	.	-16.034	1.5039	0.02482	0.2196:0.2615:0.324:0.1949	.	.	.	.	C	37	.	.	R	-	1	0	AMPH	38469130	0.005000	0.15991	0.968000	0.41197	0.560000	0.35617	-1.526000	0.02229	-0.560000	0.06102	-1.202000	0.01658	CGC		0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		66	370	0	0	0	1	0	66	370					A	38502605	G	A	38502605	2	1	25	1	0	0	0	0	0	0	0	1	588	1103	39	1		1	AMPH	7	38502605	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	13592153	38502605	120636058	65	3043											
PKD1L1	168507	broad.mit.edu	37	chr7	47842826	47842826	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctgctacaaagatgctGgggagtgagtggcgcatcat	13	10	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2648					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)		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						CAAAGATGCTGGGGAGTGAGT	0.463																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(7942-7944)ccC>ccA		polycystic kidney disease 1 like 1							129	119	122					7																	47842826		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47842826G>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.7944C>A	7.37:g.47842826G>T						C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	p.P2648P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			53	7994	-			2648					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.7944C>A	CCDS34633.1																																																																																				0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		32	250	1	0	5.8336e-16	1	6.32245e-16	32	250					T	47842826	G	T	47842826	2	4	25	1	0	0	0	0	0	0	0	1	12006	1335	47	3		3	PKD1L1	7	47842826	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	9340221	47842826	111295837	66	3044											
ZNF804B	219578	broad.mit.edu	37	chr7	88956723	88956724	+	Frame_Shift_Ins	INS	-	-	A													ctaagtcatggaaagatgagINSaaaaaacaagaaaaagcact							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:88956723_88956724insA	ENST00000333190.4	+	3	924_925	c.315_316insA	c.(316-318)aaafs	p.K106fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	106							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAAAGATGAGAAAAAACAAGA	0.361										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(313-318)gaaaaafs		zinc finger protein 804B																																				SO:0001589	frameshift_variant	219578					intracellular	zinc ion binding	g.chr7:88956723_88956724insA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.321dupA	7.37:g.88956729_88956729dupA	ENSP00000329638:p.Lys106fs	HNSCC(36;0.09)					p.EK105fs	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	924_925	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		105					B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	ENST00000333190.4	37	c.315_316insA	CCDS5613.1																																																																																				0.361	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		21	573						21	573	---	---	---	---	A	88956724	-	A	88956723	7	5	25	1	0	1	1	0	0	0	0	0	18224	933	33	0	325	0	ZNF804B	7	88956723	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	41113897	88956723	70181940	67	3045											
EPHB4	2050	broad.mit.edu	37	chr7	100421350	100421350	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtagaagacggtgaaggtCtccttgcaggagcgcccagc	14	10	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPHB4_ENST00000360620.3_Silent_p.E109E|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	109	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGTGAAGGTCTCCTTGCAGG	0.667																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(325-327)gaG>gaA		EPH receptor B4							65	62	63					7																	100421350		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421350C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.327G>A	7.37:g.100421350C>T						EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E	p.E109E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	795	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		109					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.327G>A	CCDS5706.1																																																																																				0.667	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		42	314	0	0	0	1	0	42	314					T	100421350	C	T	100421350	2	4	25	1	0	0	0	0	0	0	0	1	5195	912	32	2		2	EPHB4	7	100421350	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	11464627	100421350	58717313	68	3046											
RELN	5649	broad.mit.edu	37	chr7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagaatgatgatgtcatCgactgcccactggtcatagt	11	9	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000424685.2_Missense_Mutation_p.D1215N|RELN_ENST00000343529.5_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGATGTCATCGACTGCCCAC	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3643-3645)Gat>Aat		reelin							261	250	254					7																	103234836		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234836C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3643G>A	7.37:g.103234836C>T	ENSP00000392423:p.Asp1215Asn					RELN_ENST00000343529.5_Missense_Mutation_p.D1215N|RELN_ENST00000424685.2_Missense_Mutation_p.D1215N	p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3802	-			1215					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3643G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144229	0.94603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38560	1.13;1.13;1.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.952;0.981	T	0.70392	-0.4884	10	0.87932	D	0	.	19.9347	0.97133	0.0:1.0:0.0:0.0	.	1215;1215	P78509-2;P78509	.;RELN_HUMAN	N	1215	ENSP00000392423:D1215N;ENSP00000345694:D1215N;ENSP00000388446:D1215N	ENSP00000345694:D1215N	D	-	1	0	RELN	103022072	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.267000	0.78462	2.707000	0.92482	0.591000	0.81541	GAT		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		176	1177	0	0	0	1	0	176	1177					T	103234836	C	T	103234836	3	4	25	1	0	0	0	0	1	0	0	0	13270	884	31	1	6899	1	RELN	7	103234836	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	2813486	103234836	55903827	69	3047											
LAMB4	22798	broad.mit.edu	37	chr7	107735753	107735753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcacaggtcaagaatgGcagactcccaagggggttac	11	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:107735753G>A	ENST00000388781.3	-	12	1473	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	LAMB4_ENST00000418464.1_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	464	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCAAGAATGGCAGACTCCCA	0.453																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1390-1392)Cca>Tca		laminin, beta 4							99	84	89					7																	107735753		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107735753G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1390C>T	7.37:g.107735753G>A	ENSP00000373433:p.Pro464Ser					LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S	p.P464S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			12	1473	-			464			Laminin EGF-like 4.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1390C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883555	0.33255	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.57	3.68	0.42216	EGF-like, laminin (3);	0.000000	0.49916	D	0.000125	T	0.47857	0.1468	N	0.11818	0.18	0.28207	N	0.927093	D	0.53619	0.961	P	0.52957	0.714	T	0.41752	-0.9491	10	0.30854	T	0.27	.	11.8605	0.52463	0.0:0.0:0.5519:0.4481	.	464	A4D0S4	LAMB4_HUMAN	S	464	ENSP00000205386:P464S;ENSP00000373433:P464S;ENSP00000373432:P464S;ENSP00000402353:P464S;ENSP00000402265:P464S	ENSP00000205386:P464S	P	-	1	0	LAMB4	107522989	0.956000	0.32656	0.630000	0.29268	0.886000	0.51366	1.029000	0.30140	1.128000	0.42052	0.549000	0.68633	CCA		0.453	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		5	198	0	0	0	1	0	5	198					A	107735753	G	A	107735753	3	1	25	1	0	0	0	0	1	0	0	0	8644	1203	42	2	3987	2	LAMB4	7	107735753	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4500917	107735753	51402910	70	3048											
EXOC4	60412	broad.mit.edu	37	chr7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-													ctggacgagagtttgcagccTtttttgccaagaagaaacct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123	127	126					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	1191						7	1191	---	---	---	---	-	133160181	T	-	133160181	7	5	25	1	0	1	0	1	0	0	0	0	5324	1609	56	0	1312	0	EXOC4	7	133160181	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	25424428	133160181	25978482	71	3049											
ZNF746	155061	broad.mit.edu	37	chr7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtgcaggtgaagggccGcacgcccgtgtgcgttcggt	18	11	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	564					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTGAAGGGCCGCACGCCCGTG	0.672																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1690-1692)Cgg>Tgg		zinc finger protein 746							51	38	42					7																	149171720		2202	4300	6502	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171720G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1690C>T	7.37:g.149171720G>A	ENSP00000345140:p.Arg564Trp					ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W	p.R564W			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1970	-	Melanoma(164;0.165)		564					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1690C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654521	0.67472	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.15139	2.45;2.45	5.58	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000277	T	0.43010	0.1228	M	0.84082	2.675	0.36220	D	0.851953	D;D	0.89917	1.0;1.0	D;D	0.78314	0.917;0.991	T	0.55891	-0.8069	10	0.87932	D	0	-24.6663	11.729	0.51726	0.0:0.0:0.6974:0.3026	.	565;564	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	W	564;565	ENSP00000345140:R564W;ENSP00000395007:R565W	ENSP00000345140:R564W	R	-	1	2	ZNF746	148802653	0.497000	0.26067	1.000000	0.80357	0.991000	0.79684	0.576000	0.23744	2.630000	0.89119	0.462000	0.41574	CGG		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		9	100	0	0	0	1	0	9	100					A	149171720	G	A	149171720	3	1	25	1	0	0	0	0	1	0	0	0	18182	1086	38	1	248	1	ZNF746	7	149171720	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	16011539	149171720	9966943	72	3050											
DEFB135	613209	broad.mit.edu	37	chr8	11841997	11841997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgactgcaaggtacttgCcggccaaaatgtctaaaaaa	10	9	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373																																						ENST00000382208.2																			0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(130-132)tgC>tgT		defensin, beta 135							101	99	99					8																	11841997		1879	4107	5986	SO:0001819	synonymous_variant	613209				defense response to bacterium	extracellular region		g.chr8:11841997C>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T							p.C44C	NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN			2	132	+			44					Q4QY37	Silent	SNP	ENST00000382208.2	37	c.132C>T	CCDS43710.1																																																																																				0.373	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		5	307	0	0	0	1	0	5	307					T	11841997	C	T	11841997	2	4	25	1	0	0	0	0	0	0	0	1	4435	747	26	2		2	DEFB135	8	11841997	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		11841997	134522025	73	3051											
NCOA2	10499	broad.mit.edu	37	chr8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcttggttataccttAgatactgtgtcacattctct	6	10	4	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	147	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATACCTTAGATACTGTGT	0.418			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(439-441)cTa>cCa		nuclear receptor coactivator 2							113	100	104					8																	71082538		1893	4116	6009	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082538A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.440T>C	8.37:g.71082538A>G	ENSP00000399968:p.Leu147Pro						p.L147P	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	621	-	Breast(64;0.201)		147			PAS.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.440T>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567322	0.86439	.	.	ENSG00000140396	ENST00000452400	T	0.24908	1.83	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80125	-0.1513	10	0.87932	D	0	.	15.5729	0.76354	1.0:0.0:0.0:0.0	.	147	Q15596	NCOA2_HUMAN	P	147	ENSP00000399968:L147P	ENSP00000399968:L147P	L	-	2	0	NCOA2	71245092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.074000	0.62210	0.528000	0.53228	CTA		0.418	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			12	78	0	0	0	1	0	12	78					G	71082538	A	G	71082538	3	3	25	1	0	0	0	0	1	0	0	0	10271	420	15	4	4026	4	NCOA2	8	71082538	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	59240541	71082538	75281484	74	3052											
MATN2	4147	broad.mit.edu	37	chr8	99019798	99019798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtgtcctgagggacaCgtgctccgcagcgatgggaa	15	10	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000520016.1	+	9	1666	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000254898.5_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H			O00339	MATN2_HUMAN	matrilin 2	514	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			CTGAGGGACACGTGCTCCGCA	0.567																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1540-1542)caC>caT		matrilin 2							145	142	143					8																	99019798		2140	4250	6390	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99019798C>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.1542C>T	8.37:g.99019798C>T						MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H	p.H514H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		10	1773	+	Breast(36;1.43e-06)		514			EGF-like 7.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.1542C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.186741	0.01620	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	-7.32	0.01436	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-16.2738	16.4012	0.83641	0.0:0.2847:0.0:0.7153	.	.	.	.	C	297	.	.	R	+	1	0	MATN2	99088974	0.000000	0.05858	0.037000	0.18230	0.086000	0.17979	-1.867000	0.01646	-1.505000	0.01807	-1.553000	0.00894	CGT		0.567	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			64	292	0	0	0	1	0	64	292					T	99019798	C	T	99019798	2	4	25	1	0	0	0	0	0	0	0	1	9375	535	19	1		1	MATN2	8	99019798	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	27937260	99019798	47344224	75	3053											
POP1	10940	broad.mit.edu	37	chr8	99170241	99170241	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagagcccgtggctggGcaggaagctctgactctagg	18	9	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99170241G>T	ENST00000401707.2	+	16	2898	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	POP1_ENST00000349693.3_Silent_p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	939					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCGTGGCTGGGCAGGAAGCTC	0.572																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2815-2817)ggG>ggT		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							84	95	91					8																	99170241		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99170241G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2817G>T	8.37:g.99170241G>T						POP1_ENST00000349693.3_Silent_p.G939G	p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	2898	+	Breast(36;1.78e-06)		939					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.2817G>T	CCDS6277.1																																																																																				0.572	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		9	532	1	0	0.000442599	1	0.000451917	9	532					T	99170241	G	T	99170241	2	4	25	1	0	0	0	0	0	0	0	1	12293	1190	42	3		3	POP1	8	99170241	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	150443	99170241	47193781	76	3054											
ZHX1	11244	broad.mit.edu	37	chr8	124266775	124266775	+	Frame_Shift_Del	DEL	T	T	-													ctgccagttgctcttttgtcTtttttgcccgaatgccaaat							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124266775delT	ENST00000522655.1	-	3	1952	c.1412delA	c.(1411-1413)aagfs	p.K471fs	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Frame_Shift_Del_p.K471fs|ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	471	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCTTTTGTCTTTTTTGCCCG	0.393																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1411-1413)agfs		zinc fingers and homeoboxes 1							136	146	143					8																	124266775		2203	4299	6502	SO:0001589	frameshift_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266775delT	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1412delA	8.37:g.124266775delT	ENSP00000428821:p.Lys471fs					ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Frame_Shift_Del_p.K471fs|ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs	p.K471fs	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2029	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		471			Required for interaction with NFYA.		Q8IWD8	Frame_Shift_Del	DEL	ENST00000522655.1	37	c.1412delA	CCDS6342.1																																																																																				0.393	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			8	1626						8	1626	---	---	---	---	-	124266775	T	-	124266775	7	5	25	1	0	1	0	1	0	0	0	0	17728	1609	56	0	1213	0	ZHX1	8	124266775	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	25096534	124266775	22097247	77	3055											
ATAD2	29028	broad.mit.edu	37	chr8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcacctccaggatctctatCtggattgtattctaaggcat	7	11	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000287394.5	-	22	3303	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1066	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1066Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATCTCTATCTGGATTGTAT	0.373																																						ENST00000287394.5																			1	Substitution - Missense(1)	p.D1066Y(1)	breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3196-3198)Gat>Cat		ATPase family, AAA domain containing 2							73	71	72					8																	124348628		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348628C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3196G>C	8.37:g.124348628C>G	ENSP00000287394:p.Asp1066His					ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	p.D1066H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3303	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1066			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3196G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066390	0.76187	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.29917	1.55;1.55	5.89	5.89	0.94794	Bromodomain (5);	0.507344	0.17654	U	0.166599	T	0.55641	0.1933	M	0.78223	2.4	0.58432	D	0.999999	D	0.55385	0.971	P	0.56398	0.797	T	0.56992	-0.7887	10	0.72032	D	0.01	-27.5249	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1066	Q6PL18	ATAD2_HUMAN	H	1066;384	ENSP00000287394:D1066H;ENSP00000429213:D384H	ENSP00000287394:D1066H	D	-	1	0	ATAD2	124417809	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		57	332	0	0	0	1	0	57	332					G	124348628	C	G	124348628	3	3	25	1	0	0	0	0	1	0	0	0	1072	913	32	5	1004	5	ATAD2	8	124348628	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	81853	124348628	22015394	78	3056											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		14	420						14	420	---	---	---	---	T	21007046	-	T	21007045	7	5	25	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08		21007045	120206386	79	3057											
TLN1	7094	broad.mit.edu	37	chr9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaattgccagcagcaaCggccttggcggttgccatgg	14	11	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAACGGCCTTGGCG	0.547																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6568-6570)Gtt>Att		talin 1							71	70	70					9																	35700280		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700280C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6568G>A	9.37:g.35700280C>T	ENSP00000316029:p.Val2190Ile					TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	p.V2190I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6921	-	all_epithelial(49;0.167)		2190					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6568G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358745	0.95854	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.74421	-0.84;-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.85859	2.78	0.80722	D	1	D	0.54207	0.965	B	0.39771	0.309	D	0.84352	0.0533	10	0.87932	D	0	-20.4308	18.3575	0.90362	0.0:1.0:0.0:0.0	.	2190	Q9Y490	TLN1_HUMAN	I	2190;2078	ENSP00000316029:V2190I;ENSP00000442981:V2078I	ENSP00000316029:V2190I	V	-	1	0	TLN1	35690280	1.000000	0.71417	0.788000	0.31933	0.938000	0.57974	7.747000	0.85070	2.436000	0.82500	0.655000	0.94253	GTT		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		16	352	0	0	0	1	0	16	352					T	35700280	C	T	35700280	3	4	25	1	0	0	0	0	1	0	0	0	15999	536	19	1	1093	1	TLN1	9	35700280	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	14693235	35700280	105513151	80	3058											
FAM189A2	9413	broad.mit.edu	37	chr9	71951186	71951186	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcctatgatactcctgGtatgtactgatcttataaat	7	7	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATACTCCTGGTATGTACTGA	0.333																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.e2+1		family with sequence similarity 189, member A2							163	164	164					9																	71951186		2203	4299	6502	SO:0001630	splice_region_variant	9413					integral to membrane		g.chr9:71951186G>T	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.12+1G>T	9.37:g.71951186G>T						FAM189A2_ENST00000455972.1_Splice_Site		NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			2	432	+								Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Splice_Site	SNP	ENST00000257515.8	37		CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323082	0.60634	.	.	ENSG00000135063	ENST00000455972;ENST00000257515	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2361	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM189A2	71141006	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.913000	0.63341	2.526000	0.85167	0.655000	0.94253	.		0.333	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816	Intron	85	572	1	0	9.94044e-53	1	1.12775e-52	85	572					T	71951186	G	T	71951186	5	4	25	1	0	0	0	0	0	0	1	0	5537	1275	44	3	15	3	FAM189A2	9	71951186	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	36250906	71951186	69262245	81	3059											
ENTPD8	377841	broad.mit.edu	37	chr9	140330612	140330612	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaactgtgaggttctggggGaggctcagcgggggcgtggc	20	8	3	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000472938.1	-	6	919	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000344119.2_Silent_p.L301L|ENTPD8_ENST00000371506.2_Silent_p.L301L			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	301					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTTCTGGGGGAGGCTCAGCG	0.642																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(901-903)ctC>ctA		ectonucleoside triphosphate diphosphohydrolase 8							51	50	50					9																	140330612		2202	4300	6502	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330612G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.903C>A	9.37:g.140330612G>T						ENTPD8_ENST00000344119.2_Silent_p.L301L|ENTPD8_ENST00000472938.1_Silent_p.L301L	p.L301L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	7	1086	-	all_cancers(76;0.0926)		301					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.903C>A	CCDS43913.1																																																																																				0.642	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		38	220	1	0	9.14704e-12	1	9.80401e-12	38	220					T	140330612	G	T	140330612	2	4	25	1	0	0	0	0	0	0	0	1	5163	1161	41	3		3	ENTPD8	9	140330612	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	68379426	140330612	882819	82	3060											
ARHGAP21	57584	broad.mit.edu	37	chr10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagatgtaagactgatGccttaaaggctgcggtgtct	12	8	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	752					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAGACTGATGCCTTAAAGGC	0.473																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2257-2259)Cat>Tat		Rho GTPase activating protein 21							108	105	106					10																	24908567		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908567G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2257C>T	10.37:g.24908567G>A	ENSP00000379709:p.His753Tyr					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	p.H753Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	2743	-			752					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2257C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307576	0.81247	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.1	5.1	0.69264	.	0.162808	0.53938	D	0.000044	T	0.64560	0.2609	M	0.70595	2.14	0.42876	D	0.994156	D;D	0.64830	0.989;0.994	P;P	0.57152	0.814;0.656	T	0.67925	-0.5544	10	0.54805	T	0.06	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	743;752	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	753;540;743;753;588	ENSP00000379709:H753Y;ENSP00000365604:H540Y;ENSP00000365592:H743Y;ENSP00000405018:H753Y	ENSP00000365604:H540Y	H	-	1	0	ARHGAP21	24948573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.509000	0.84616	0.655000	0.94253	CAT		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		75	480	0	0	0	1	0	75	480					A	24908567	G	A	24908567	3	1	25	1	0	0	0	0	1	0	0	0	871	1319	46	2	3691	2	ARHGAP21	10	24908567	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		24908567	110626180	83	3061											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		11	438						11	438	---	---	---	---	T	63958149	-	T	63958148	7	5	25	1	0	1	1	0	0	0	0	0	13773	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	39049581	63958148	71576599	84	3062											
CDH23	64072	broad.mit.edu	37	chr10	73377087	73377087	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccgagtacagcgtggccatCactgagctggcacaggtcgg	14	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73377087C>T	ENST00000224721.6	+	10	1091	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000398842.3_Silent_p.I357I|CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000299366.7_Silent_p.I402I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	357	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGTGGCCATCACTGAGCTGG	0.557																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1084-1086)atC>atT		cadherin-related 23							77	81	79					10																	73377087		2193	4289	6482	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73377087C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1086C>T	10.37:g.73377087C>T						CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000398842.3_Silent_p.I357I	p.I362I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			10	1091	+			357			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.1086C>T																																																																																					0.557	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		4	176	0	0	0	1	0	4	176					T	73377087	C	T	73377087	2	4	25	1	0	0	0	0	0	0	0	1	3117	816	29	2		2	CDH23	10	73377087	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	9418939	73377087	62157660	85	3063											
CDH23	64072	broad.mit.edu	37	chr10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccctggaccgcgagcGgatcccagagtacaagctga	13	15	0	2	rs115113440	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCGCGAGCGGATCCCAGAG	0.597													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20424	0.0		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5767-5769)cGg>cAg		cadherin-related 23		G	GLN/ARG	18,4196		0,18,2089	48	54	52		5753	2.3	1	10	dbSNP_132	52	0,8414		0,0,4207	yes	missense	CDH23	NM_022124.5	43	0,18,6296	AA,AG,GG		0.0,0.4271,0.1425	benign	1918/3355	73545428	18,12610	2107	4207	6314	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73545428G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5768G>A	10.37:g.73545428G>A	ENSP00000224721:p.Arg1923Gln						p.R1923Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			43	5773	+			1918			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5768G>A		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	12.73	2.024660	0.35701	0.004271	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.074456	0.53938	D	0.000048	T	0.18173	0.0436	N	0.05510	-0.035	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.03287	-1.1052	9	0.15499	T	0.54	.	5.4098	0.16342	0.2787:0.0:0.592:0.1293	.	1918	Q9H251	CAD23_HUMAN	Q	1923;1918;1921	.	ENSP00000224721:R1923Q	R	+	2	0	CDH23	73215434	0.999000	0.42202	0.991000	0.47740	0.646000	0.38490	0.633000	0.24598	0.208000	0.20626	-0.380000	0.06706	CGG		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		11	62	0	0	0	1	0	11	62					A	73545428	G	A	73545428	3	1	25	1	0	0	0	0	1	0	0	0	3117	1116	39	1	6268	1	CDH23	10	73545428	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	168341	73545428	61989319	86	3064											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cacagagatgcgctgctcgcGagcgctggggggctcaggag	18	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCTGCTCGCGAGCGCTGGGG	0.706																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1828-1830)Cgc>Ggc		synaptopodin 2-like							22	27	26					10																	75407582		2001	4159	6160	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407582G>C	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1828C>G	10.37:g.75407582G>C	ENSP00000378289:p.Arg610Gly					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G|SYNPO2L_ENST00000372872.4_Intron	p.R610G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	1977	-	Prostate(51;0.0112)		610			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1828C>G	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805525	0.50315	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27402	1.67;1.98	5.02	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.50333	1.59	0.43608	D	0.995978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.98;0.993	T	0.31696	-0.9934	10	0.33141	T	0.24	-16.451	12.8585	0.57899	0.0:0.0:0.4834:0.5165	.	610;386	Q9H987;Q9H987-2	SYP2L_HUMAN;.	G	386;610	ENSP00000361964:R386G;ENSP00000378289:R610G	ENSP00000361964:R386G	R	-	1	0	SYNPO2L	75077588	0.221000	0.23642	0.834000	0.33040	0.795000	0.44927	0.966000	0.29331	1.313000	0.45069	0.549000	0.68633	CGC		0.706	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		48	249	0	0	0	1	0	48	249					C	75407582	G	C	75407582	3	2	25	1	0	0	0	0	1	0	0	0	15510	1058	37	5	1109	5	SYNPO2L	10	75407582	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	1862154	75407582	60127165	87	3065											
AGAP5	729092	broad.mit.edu	37	chr10	75451817	75451817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacatggtttgtacagttgCttcttcttatttctacaact	5	8	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75451817C>A	ENST00000374094.4	-	4	420	c.380G>T	c.(379-381)aGc>aTc	p.S127I	AGAP5_ENST00000443782.2_Missense_Mutation_p.S104I|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGTACAGTTGCTTCTTCTTAT	0.274																																						ENST00000443782.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							17	15	15					10																	75451817		688	1544	2232	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75451817C>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.380G>T	10.37:g.75451817C>A	ENSP00000363207:p.Ser127Ile					RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I	p.S104I			A6NIR3	AGAP5_HUMAN			3	436	-			127					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.311G>T	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	10.74	1.435480	0.25813	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88354	-2.37;-2.37	1.7	1.7	0.24286	.	0.278236	0.34555	N	0.003870	D	0.85435	0.5696	M	0.77103	2.36	0.22253	N	0.999252	P	0.37015	0.578	B	0.30716	0.119	T	0.79577	-0.1746	10	0.59425	D	0.04	.	9.4009	0.38431	0.0:1.0:0.0:0.0	.	127	A6NIR3	AGAP5_HUMAN	I	127;104	ENSP00000363207:S127I;ENSP00000402792:S104I	ENSP00000363207:S127I	S	-	2	0	AGAP5	75121823	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.476000	0.35420	1.256000	0.44068	0.184000	0.17185	AGC		0.274	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		6	369	1	0	1.06961e-07	1	1.13391e-07	6	369					A	75451817	C	A	75451817	3	1	25	1	0	0	0	0	1	0	0	0	371	797	28	3	1700	3	AGAP5	10	75451817	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	44235	75451817	60082930	88	3066											
PDCD11	22984	broad.mit.edu	37	chr10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagaaagatccacaaaccaGagaaagctttccagcagtca	7	11	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	USMG5_ENST00000309579.3_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000337003.4_5'Flank|USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000369815.1_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACAAACCAGAGAAAGCTTT	0.418																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(58-60)Gag>Cag		programmed cell death 11							138	128	131					10																	105158241		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158241G>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.58G>C	10.37:g.105158241G>C	ENSP00000358812:p.Glu20Gln						p.E20Q	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	152	+		Colorectal(252;0.0747)|Breast(234;0.128)	20					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.58G>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462398	0.43736	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.13420	2.59	5.3	5.3	0.74995	.	0.452187	0.25628	N	0.029371	T	0.17619	0.0423	M	0.69523	2.12	0.26868	N	0.967807	B	0.32620	0.378	B	0.36289	0.221	T	0.11842	-1.0571	10	0.29301	T	0.29	-23.9668	9.3697	0.38246	0.1602:0.0:0.8398:0.0	.	20	Q14690	RRP5_HUMAN	Q	20	ENSP00000358812:E20Q	ENSP00000358812:E20Q	E	+	1	0	PDCD11	105148231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.614000	0.61183	2.499000	0.84300	0.555000	0.69702	GAG		0.418	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			34	172	0	0	0	1	0	34	172					C	105158241	G	C	105158241	3	2	25	1	0	0	0	0	1	0	0	0	11659	943	33	5	60	5	PDCD11	10	105158241	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	29706424	105158241	30376506	89	3067											
MKI67	4288	broad.mit.edu	37	chr10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgctttcctgagacttctCttggactgtggcttgaagat	10	9	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2240	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGACTTCTCTTGGACTGTG	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6718-6720)aaG>aaC		marker of proliferation Ki-67							264	253	257					10																	129903384		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903384C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6720G>C	10.37:g.129903384C>G	ENSP00000357643:p.Lys2240Asn					MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	p.K2240N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7095	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2240			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6720G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061815	0.36373	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	3.07	2.15	0.27550	.	0.672301	0.12961	N	0.425010	T	0.12433	0.0302	M	0.68952	2.095	0.09310	N	1	D;D;D	0.76494	0.991;0.992;0.999	P;D;D	0.72982	0.8;0.921;0.979	T	0.12066	-1.0562	10	0.30078	T	0.28	.	8.7284	0.34483	0.0:0.8779:0.0:0.1221	.	2239;1880;2240	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2240;1880;2239	ENSP00000357643:K2240N;ENSP00000357642:K1880N	ENSP00000357642:K1880N	K	-	3	2	MKI67	129793374	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.058000	0.14301	1.716000	0.51395	0.561000	0.74099	AAG		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		226	1154	0	0	0	1	0	226	1154					G	129903384	C	G	129903384	3	3	25	1	0	0	0	0	1	0	0	0	9639	912	32	5	3062	5	MKI67	10	129903384	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	24745143	129903384	5631363	90	3068											
MKI67	4288	broad.mit.edu	37	chr10	129906454	129906454	+	Frame_Shift_Del	DEL	T	T	-													ggtcttctagagcctgggccTtttccttaggagtctgtagc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129906454delT	ENST00000368654.3	-	13	4025	c.3650delA	c.(3649-3651)aagfs	p.K1217fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.K857fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1217	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3649-3651)agfs		marker of proliferation Ki-67							126	124	125					10																	129906454		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906454delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3650delA	10.37:g.129906454delT	ENSP00000357643:p.Lys1217fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.K857fs	p.K1217fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4025	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1217			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.3650delA	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	841						7	841	---	---	---	---	-	129906454	T	-	129906454	7	5	25	1	0	1	0	1	0	0	0	0	9639	1609	56	0	6132	0	MKI67	10	129906454	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	3070	129906454	5628293	91	3069											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-													gctgcagctgactgctgggcGtggtggtggtggtactgctg					rs372037631		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		8	381						8	381	---	---	---	---	-	46001358	GTG	-	46001356	7	5	25	1	0	1	0	1	0	0	0	0	11875	1136	40	0	1809	0	PHF21A	11	46001356	In_Frame_Del	DEL	GTG	TCGA-3A-A9I9-01A-11D-A38G-08		46001356	89005160	92	3070											
OR4B1	119765	broad.mit.edu	37	chr11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgagatccttttgattGtggtgatggcctatgattgc	12	6	0	4	rs377574489		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443																																						ENST00000309562.2																			1	Substitution - Missense(1)	p.V114L(1)	lung(1)	breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(340-342)Gtg>Atg		olfactory receptor, family 4, subfamily B, member 1							163	157	159					11																	48238701		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238701G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.340G>A	11.37:g.48238701G>A	ENSP00000311605:p.Val114Met						p.V114M	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	358	+			114					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.340G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350283	0.41599	.	.	ENSG00000175619	ENST00000309562	T	0.00502	6.95	5.24	0.588	0.17445	GPCR, rhodopsin-like superfamily (1);	0.647154	0.13543	N	0.380012	T	0.00637	0.0021	L	0.33710	1.025	0.09310	N	1	P	0.42248	0.774	P	0.52909	0.713	T	0.53830	-0.8383	10	0.56958	D	0.05	.	8.0126	0.30361	0.4392:0.0:0.5608:0.0	.	114	Q8NGF8	OR4B1_HUMAN	M	114	ENSP00000311605:V114M	ENSP00000311605:V114M	V	+	1	0	OR4B1	48195277	0.000000	0.05858	0.407000	0.26434	0.736000	0.42039	-0.124000	0.10595	0.199000	0.20427	0.385000	0.25706	GTG		0.443	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		103	585	0	0	0	1	0	103	585					A	48238701	G	A	48238701	3	1	25	1	0	0	0	0	1	0	0	0	11086	1377	48	2	342	2	OR4B1	11	48238701	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2237345	48238701	86767815	93	3071											
SMTNL1	219537	broad.mit.edu	37	chr11	57311123	57311123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtcccagcgaagagcaGgagcaggacgtggaaaaaga	16	8	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000399154.2	+	3	648	c.648G>A	c.(646-648)caG>caA	p.Q216Q	SMTNL1_ENST00000457912.1_Silent_p.Q271Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1	216	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCGAAGAGCAGGAGCAGGACG	0.607																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(811-813)caG>caA		smoothelin-like 1							19	22	21					11																	57311123		2042	4200	6242	SO:0001819	synonymous_variant	219537							g.chr11:57311123G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.648G>A	11.37:g.57311123G>A						SMTNL1_ENST00000399154.2_Silent_p.Q216Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q	p.Q271Q			E9PPJ3	E9PPJ3_HUMAN			3	813	+			253						Silent	SNP	ENST00000399154.2	37	c.813G>A																																																																																					0.607	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		12	64	0	0	0	1	0	12	64					A	57311123	G	A	57311123	2	1	25	1	0	0	0	0	0	0	0	1	14865	991	35	2		2	SMTNL1	11	57311123	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	9072422	57311123	77695393	94	3072											
DAGLA	747	broad.mit.edu	37	chr11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacaacaaggggaagaccGctctgctctctgcagccaag	10	13	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	672					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGGAAGACCGCTCTGCTCTC	0.637																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2014-2016)Gct>Act		diacylglycerol lipase, alpha							98	84	89					11																	61508664		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61508664G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2014G>A	11.37:g.61508664G>A	ENSP00000257215:p.Ala672Thr						p.A672T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2130	+			672					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2014G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295157	0.60086	.	.	ENSG00000134780	ENST00000257215	T	0.29655	1.56	3.73	3.73	0.42828	.	0.056336	0.64402	D	0.000001	T	0.43986	0.1272	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.42949	-0.9421	10	0.48119	T	0.1	-13.0611	16.4468	0.83936	0.0:0.0:1.0:0.0	.	672	Q9Y4D2	DGLA_HUMAN	T	672	ENSP00000257215:A672T	ENSP00000257215:A672T	A	+	1	0	DAGLA	61265240	1.000000	0.71417	0.852000	0.33557	0.619000	0.37552	9.441000	0.97557	2.039000	0.60335	0.456000	0.33151	GCT		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		43	256	0	0	0	1	0	43	256					A	61508664	G	A	61508664	3	1	25	1	0	0	0	0	1	0	0	0	4237	1087	38	1	2084	1	DAGLA	11	61508664	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4197541	61508664	73497852	95	3073											
CAPN5	726	broad.mit.edu	37	chr11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaaaggcatcttctacCgcaagaagctgagccagccc	10	12	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000278559.3	+	12	1897	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	570	C2.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CATCTTCTACCGCAAGAAGCT	0.567																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(1708-1710)Cgc>Tgc		calpain 5							127	111	116					11																	76833726		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76833726C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1708C>T	11.37:g.76833726C>T	ENSP00000278559:p.Arg570Cys					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C	p.R570C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			12	1897	+			570			C2.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1708C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988182	0.74589	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.71103	-0.54;-0.54;-0.54	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050653	0.85682	D	0.000000	T	0.81074	0.4747	M	0.62016	1.91	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;0.996;0.995;1.0	T	0.82692	-0.0331	10	0.87932	D	0	.	12.5828	0.56399	0.1658:0.8341:0.0:0.0	.	608;610;610;570	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	C	570;610;570;610	ENSP00000278559:R570C;ENSP00000432332:R570C;ENSP00000409996:R610C	ENSP00000278559:R570C	R	+	1	0	CAPN5	76511374	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.941000	0.49011	2.428000	0.82296	0.655000	0.94253	CGC		0.567	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		30	189	0	0	0	1	0	30	189					T	76833726	C	T	76833726	3	4	25	1	0	0	0	0	1	0	0	0	2636	652	23	1	1750	1	CAPN5	11	76833726	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	15325062	76833726	58172790	96	3074											
TECTA	7007	broad.mit.edu	37	chr11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcgcaacggggtgcGcggctgcttcagcaccaaga	15	13	1	1	rs527976707		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACGGGGTGCGCGGCTGCTTC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		11888	0.0		0.0	False		,,,				2504	0.001					ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4429-4431)cGc>cAc		tectorin alpha							40	37	38					11																	121028674		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028674G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4430G>A	11.37:g.121028674G>A	ENSP00000376543:p.Arg1477His					TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H	p.R1477H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4701	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1477						Missense_Mutation	SNP	ENST00000392793.1	37	c.4430G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397066	0.83120	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.31926	0.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.17137	-1.0379	10	0.14656	T	0.56	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1477	O75443	TECTA_HUMAN	H	1477	ENSP00000376543:R1477H;ENSP00000264037:R1477H	ENSP00000264037:R1477H	R	+	2	0	TECTA	120533884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	CGC		0.687	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		39	245	0	0	0	1	0	39	245					A	121028674	G	A	121028674	3	1	25	1	0	0	0	0	1	0	0	0	15799	1087	38	1	4480	1	TECTA	11	121028674	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	44194948	121028674	13977842	97	3075											
UBASH3B	84959	broad.mit.edu	37	chr11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcaggccgctacatacGcaccaacctgaacatgcctc	6	15	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	416	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGCTACATACGCACCAACCTG	0.473																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1246-1248)cGc>cAc		ubiquitin associated and SH3 domain containing B							169	135	146					11																	122667631		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122667631G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1247G>A	11.37:g.122667631G>A	ENSP00000284273:p.Arg416His						p.R416H	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	9	1622	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	416			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1247G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881504	0.91740	.	.	ENSG00000154127	ENST00000284273	T	0.07567	3.18	6.05	5.14	0.70334	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10660	-1.0620	10	0.72032	D	0.01	-25.6525	15.3314	0.74215	0.0666:0.0:0.9334:0.0	.	416	Q8TF42	UBS3B_HUMAN	H	416	ENSP00000284273:R416H	ENSP00000284273:R416H	R	+	2	0	UBASH3B	122172841	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.368000	0.97152	1.577000	0.49804	0.650000	0.86243	CGC		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		73	277	0	0	0	1	0	73	277					A	122667631	G	A	122667631	3	1	25	1	0	0	0	0	1	0	0	0	16894	1087	38	1	1281	1	UBASH3B	11	122667631	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	1638957	122667631	12338885	98	3076											
FGF6	2251	broad.mit.edu	37	chr12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacctggaggtgaaagcCgatgcccacgttgcagtaga	14	10	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	95					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGGTGAAAGCCGATGCCCACG	0.652																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(283-285)Ggc>Agc		fibroblast growth factor 6							67	58	61					12																	4554454		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554454C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.283G>A	12.37:g.4554454C>T	ENSP00000228837:p.Gly95Ser						p.G95S	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	326	-			95					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.283G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310723	0.95629	.	.	ENSG00000111241	ENST00000228837	D	0.82526	-1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.93036	0.6453	10	0.87932	D	0	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	95	P10767	FGF6_HUMAN	S	95	ENSP00000228837:G95S	ENSP00000228837:G95S	G	-	1	0	FGF6	4424715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.636000	0.89361	0.655000	0.94253	GGC		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		37	178	0	0	0	1	0	37	178					T	4554454	C	T	4554454	3	4	25	1	0	0	0	0	1	0	0	0	5881	652	23	1	355	1	FGF6	12	4554454	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		4554454	129297441	99	3077											
C1S	716	broad.mit.edu	37	chr12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattgcagtggggatgtattCactgcactgattggggagat	14	5	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000406697.1	+	9	1168	c.540C>A	c.(538-540)ttC>ttA	p.F180L	C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L			P09871	C1S_HUMAN	complement component 1, s subcomponent	180	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(538-540)ttC>ttA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						95	92	93					12																	7172426		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172426C>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.540C>A	12.37:g.7172426C>A	ENSP00000385035:p.Phe180Leu					C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L	p.F180L			P09871	C1S_HUMAN			9	1168	+			180			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.540C>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195206	0.78902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	6.17	3.05	0.35203	CUB (5);	0.000000	0.44483	D	0.000450	T	0.17152	0.0412	L	0.28054	0.825	0.36787	D	0.884655	P	0.39551	0.678	P	0.51777	0.679	T	0.18555	-1.0333	10	0.13853	T	0.58	.	8.1984	0.31411	0.0:0.6461:0.0:0.3539	.	180	P09871	C1S_HUMAN	L	180;180;180;169;13;13	ENSP00000385035:F180L;ENSP00000328173:F180L;ENSP00000354057:F180L;ENSP00000384171:F13L;ENSP00000442298:F13L	ENSP00000328173:F180L	F	+	3	2	C1S	7042687	1.000000	0.71417	0.972000	0.41901	0.871000	0.50021	0.473000	0.22132	0.941000	0.37499	0.655000	0.94253	TTC		0.428	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		72	452	1	0	6.30617e-38	1	7.11277e-38	72	452					A	7172426	C	A	7172426	3	1	25	1	0	0	0	0	1	0	0	0	1981	825	29	3	558	3	C1S	12	7172426	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	2617972	7172426	126679469	100	3078											
C1RL	51279	broad.mit.edu	37	chr12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgaggatacaaactccCtctgaccagggggcctgccc	10	16	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000266542.4	-	3	469	c.377G>A	c.(376-378)aGg>aAg	p.R126K	C1RL_ENST00000544702.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000545337.1_Missense_Mutation_p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	126	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAAACTCCCTCTGACCAGG	0.607																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(376-378)aGg>aAg		complement component 1, r subcomponent-like							102	103	102					12																	7254607		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254607C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.377G>A	12.37:g.7254607C>T	ENSP00000266542:p.Arg126Lys					C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K	p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			3	469	-			126			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.377G>A	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.321|3.321	-0.138671|-0.138671	0.06669|0.06669	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000545280|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	3.76|3.76	0.896|0.896	0.19253|0.19253	.|CUB (5);	.|0.544302	.|0.17177	.|N	.|0.184060	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.05574|0.05574	-0.02|-0.02	0.28959|0.28959	N|N	0.889922|0.889922	.|B;B;B	.|0.23990	.|0.095;0.004;0.001	.|B;B;B	.|0.20184	.|0.028;0.007;0.003	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.07030	.|T	.|0.85	.|.	3.4791|3.4791	0.07595|0.07595	0.1981:0.5841:0.0:0.2179|0.1981:0.5841:0.0:0.2179	.|.	.|126;126;126	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	R|K	50|126	.|ENSP00000266542:R126K;ENSP00000441885:R126K;ENSP00000437398:R126K;ENSP00000442611:R126K	.|ENSP00000266542:R126K	G|R	-|-	1|2	0|0	C1RL|C1RL	7145883|7145883	0.033000|0.033000	0.19621|0.19621	0.979000|0.979000	0.43373|0.43373	0.888000|0.888000	0.51559|0.51559	-0.382000|-0.382000	0.07408|0.07408	0.183000|0.183000	0.20059|0.20059	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		112	583	0	0	0	1	0	112	583					T	7254607	C	T	7254607	3	4	25	1	0	0	0	0	1	0	0	0	1980	681	24	2	1102	2	C1RL	12	7254607	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	82181	7254607	126597288	101	3079											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		36	284	0	0	0	1	0	36	284					G	25398285	C	G	25398285	3	3	25	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	18143678	25398285	108453610	102	3080											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	1011						7	1011	---	---	---	---	-	55615116	CTT	-	55615114	7	5	25	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-3A-A9I9-01A-11D-A38G-08	30216829	55615114	78236781	103	3081											
SART3	9733	broad.mit.edu	37	chr12	108924046	108924048	+	In_Frame_Del	DEL	TTC	TTC	-													cttttccgttgttcagccttTtcttcttcttgctgcacaag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:108924046_108924048delTTC	ENST00000228284.3	-	15	2020_2022	c.1786_1788delGAA	c.(1786-1788)gaadel	p.E596del	SART3_ENST00000431469.2_In_Frame_Del_p.E560del	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	596					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GTTCAGCCTTTTCTTCTTCTTGC	0.468									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1786-1788)del		squamous cell carcinoma antigen recognized by T cells 3																																				SO:0001651	inframe_deletion	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108924046_108924048delTTC	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1786_1788delGAA	12.37:g.108924052_108924054delTTC	ENSP00000228284:p.Glu596del					SART3_ENST00000431469.2_In_Frame_Del_p.E560del	p.E596del	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			15	2020_2022	-			596					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	In_Frame_Del	DEL	ENST00000228284.3	37	c.1786_1788delGAA	CCDS9117.1																																																																																				0.468	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	743						7	743	---	---	---	---	-	108924048	TTC	-	108924046	7	5	25	1	0	1	0	1	0	0	0	0	13897	1838	64	0	1123	0	SART3	12	108924046	In_Frame_Del	DEL	TTC	TCGA-3A-A9I9-01A-11D-A38G-08	53308932	108924046	24927849	104	3082											
POLE	5426	broad.mit.edu	37	chr12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacattggtcgtcttgaagaCaaaattttctgggaagctgt	10	7	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	877					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTCTTGAAGACAAAATTTTCT	0.517								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2629-2631)Gtc>Ctc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							202	199	200					12																	133240667		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133240667C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2629G>C	12.37:g.133240667C>G	ENSP00000322570:p.Val877Leu					POLE_ENST00000535270.1_Missense_Mutation_p.V850L	p.V877L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	23	2672	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	877					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2629G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357675	0.41801	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.13778	4.22;4.22;4.22;2.56	5.57	5.57	0.84162	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42245	1.32	0.58432	D	0.999996	P;B	0.36959	0.575;0.261	B;B	0.39876	0.312;0.243	T	0.00912	-1.1517	10	0.49607	T	0.09	.	19.5987	0.95551	0.0:1.0:0.0:0.0	.	850;877	F5H1D6;Q07864	.;DPOE1_HUMAN	L	877;888;850;657;812	ENSP00000322570:V877L;ENSP00000406383:V888L;ENSP00000445753:V850L;ENSP00000442519:V657L	ENSP00000322570:V877L	V	-	1	0	POLE	131750740	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.943000	0.63554	2.640000	0.89533	0.638000	0.83543	GTC		0.517	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		40	216	0	0	0	1	0	40	216					G	133240667	C	G	133240667	3	3	25	1	0	0	0	0	1	0	0	0	12238	478	17	5	4339	5	POLE	12	133240667	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	24316621	133240667	611228	105	3083											
TPP2	7174	broad.mit.edu	37	chr13	103301346	103301346	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacgccttaaagacctTccatttattgtttctcatag	6	9	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376065.4	+	22	2754	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376052.3_Silent_p.L906L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	906					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)			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)					TTAAAGACCTTCCATTTATTG	0.338																																						ENST00000376052.3																			0				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						c.(2716-2718)ctT>ctA		tripeptidyl peptidase II							131	133	132					13																	103301346		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103301346T>A	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.2718T>A	13.37:g.103301346T>A						TPP2_ENST00000376065.4_Silent_p.L906L	p.L906L			P29144	TPP2_HUMAN			22	2734	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		906					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2718T>A	CCDS9502.1																																																																																				0.338	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			65	475	0	0	0	1	0	65	475					A	103301346	T	A	103301346	2	1	25	1	0	0	0	0	0	0	0	1	16465	1770	62	5		5	TPP2	13	103301346	Silent	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08		103301346	11868532	106	3084											
OR11H12	440153	broad.mit.edu	37	chr14	19377902	19377903	+	Frame_Shift_Ins	INS	-	-	A													tggtcaacttcctttcagagINSaaaaaaaacatctcctttgc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:19377902_19377903insA	ENST00000550708.1	+	1	381_382	c.309_310insA	c.(310-312)aaafs	p.K104fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTCAGAGAAAAAAAACAT	0.386																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(307-312)gaaaaafs		olfactory receptor, family 11, subfamily H, member 12																																				SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377902_19377903insA		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.317dupA	14.37:g.19377910_19377910dupA	ENSP00000449002:p.Lys104fs						p.EK103fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	381_382	+	all_cancers(95;0.00108)		103						Frame_Shift_Ins	INS	ENST00000550708.1	37	c.309_310insA	CCDS32017.1																																																																																				0.386	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		9	728						9	728	---	---	---	---	A	19377903	-	A	19377902	7	5	25	1	0	1	1	0	0	0	0	0	10969	933	33	0	311	0	OR11H12	14	19377902	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08		19377902	87971638	107	3085											
IPO4	79711	broad.mit.edu	37	chr14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-													gctcagcagccacaatggggAaaagggtgtgcagcaagggt							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)ttcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(886-888)tcfs		importin 4							133	149	144					14																	24655611		1972	4167	6139	SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655611delA	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.887delT	14.37:g.24655611delA	ENSP00000346453:p.Phe296fs					RP11-468E2.2_ENST00000561419.1_3'UTR	p.F296fs	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	10	1063	-			296					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Del	DEL	ENST00000354464.6	37	c.887delT	CCDS9616.1																																																																																				0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		7	830						7	830	---	---	---	---	-	24655611	A	-	24655611	7	5	25	1	0	1	0	1	0	0	0	0	7825	246	9	0	2442	0	IPO4	14	24655611	Frame_Shift_Del	DEL	A	TCGA-3A-A9I9-01A-11D-A38G-08	5277709	24655611	82693929	108	3086											
CTAGE5	4253	broad.mit.edu	37	chr14	39818172	39818172	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcccaggtccaccacctgctCcatttgcaagtatgcttttt	6	14	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:39818172C>G	ENST00000280083.3	+	23	2553	c.2239C>G	c.(2239-2241)Cca>Gca	p.P747A	CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1282A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A			O15320	CTGE5_HUMAN	CTAGE family, member 5	747	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACCACCTGCTCCATTTGCAAG	0.408																																						ENST00000553728.1																			0											c.(3844-3846)Cca>Gca									52	57	55					14																	39818172		2195	4291	6486	SO:0001583	missense	0							g.chr14:39818172C>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2239C>G	14.37:g.39818172C>G	ENSP00000280083:p.Pro747Ala					CTAGE5_ENST00000280083.3_Missense_Mutation_p.P747A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A	p.P1282A							27	4057	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3844C>G	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424878	0.25639	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.2	2.32	0.28847	.	0.244291	0.21448	N	0.074364	T	0.81138	0.4760	M	0.81802	2.56	0.19300	N	0.999972	D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;0.992	P;D;P;D;P	0.85130	0.822;0.997;0.725;0.997;0.725	T	0.68941	-0.5276	9	.	.	.	.	6.7502	0.23483	0.0:0.6936:0.1465:0.1599	.	752;704;747;675;735	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	A	1282;735;667;615;718;747;752;747;672;704;718	ENSP00000452252:P1282A;ENSP00000343897:P735A;ENSP00000450869:P667A;ENSP00000379468:P718A;ENSP00000339286:P747A;ENSP00000379462:P752A;ENSP00000280083:P747A;ENSP00000452562:P672A;ENSP00000343912:P704A;ENSP00000450449:P718A	.	P	+	1	0	CTAGE5;RP11-407N17.3	38887923	0.002000	0.14202	0.126000	0.21872	0.090000	0.18270	0.310000	0.19356	0.676000	0.31285	-0.176000	0.13171	CCA		0.408	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		65	412	0	0	0	1	0	65	412					G	39818172	C	G	39818172	3	3	25	1	0	0	0	0	1	0	0	0	4005	855	30	5	2360	5	CTAGE5	14	39818172	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	15162561	39818172	67531368	109	3087											
VTI1B	10490	broad.mit.edu	37	chr14	68118129	68118129	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaagaatttgtagtaAaccaggcctcccaggatggc	11	10	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	224					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		ATTTGTAGTAAACCAGGCCTC	0.453																																						ENST00000554659.1																			0				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(670-672)gtT>gtG		vesicle transport through interaction with t-SNAREs 1B							70	71	71					14																	68118129		2203	4300	6503	SO:0001819	synonymous_variant	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68118129A>C	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.672T>G	14.37:g.68118129A>C						ARG2_ENST00000261783.3_3'UTR	p.V224V	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	6	1013	-			224					O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	c.672T>G	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	A	6.515	0.463167	0.12402	.	.	ENSG00000100568	ENST00000554636	.	.	.	6.17	-2.23	0.06930	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.4943	0.22133	0.3206:0.2838:0.3956:0.0	.	.	.	.	C	102	.	.	F	-	2	0	VTI1B	67187882	0.962000	0.33011	0.993000	0.49108	0.998000	0.95712	0.084000	0.14891	-0.288000	0.09051	0.533000	0.62120	TTT		0.453	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			47	262	0	0	0	1	0	47	262					C	68118129	A	C	68118129	2	2	25	1	0	0	0	0	0	0	0	1	17290	1	1	4		4	VTI1B	14	68118129	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	28299957	68118129	39231411	110	3088											
MAP3K9	4293	broad.mit.edu	37	chr14	71200060	71200060	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttcactgtcctcatcctCtgtgaagatgacaagagtgg	10	11	3	4			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:71200060C>G	ENST00000554752.2	-	11	2026		c.e11-1		MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						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)			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)		tcctcatcctctgtgaagatg	0.542																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				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						c.e11-1		mitogen-activated protein kinase kinase kinase 9							25	27	26					14																	71200060		2201	4300	6501	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71200060C>G	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.2027-1G>C	14.37:g.71200060C>G						MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site				P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2026	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37			.	.	.	.	.	.	.	.	.	.	C	18.23	3.578227	0.65878	.	.	ENSG00000006432	ENST00000542284	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.73892	0.3645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73366	-0.4005	4	.	.	.	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	.	.	.	Q	392	.	.	E	-	1	0	MAP3K9	70269813	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.862000	0.69560	2.478000	0.83669	0.561000	0.74099	GAG		0.542	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	11	68	0	0	0	1	0	11	68					G	71200060	C	G	71200060	5	3	25	1	0	0	0	0	0	0	1	0	9298	927	32	5	1296	5	MAP3K9	14	71200060	Splice_Site	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	3081931	71200060	36149480	111	3089											
RPS6KA5	9252	broad.mit.edu	37	chr14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-													gactgcaaaagcttggttacTttttttatgcacacactttc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1342-1344)gtfs		ribosomal protein S6 kinase, 90kDa, polypeptide 5							91	92	92					14																	91366489		2203	4300	6503	SO:0001589	frameshift_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91366489delT	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1342delA	14.37:g.91366489delT	ENSP00000261991:p.Ser448fs					RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs	p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	11	1515	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	448			Protein kinase 2.		O95316|Q96AF7	Frame_Shift_Del	DEL	ENST00000261991.3	37	c.1342delA	CCDS9893.1																																																																																				0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		7	696						7	696	---	---	---	---	-	91366489	T	-	91366489	7	5	25	1	0	1	0	1	0	0	0	0	13704	1609	56	0	1100	0	RPS6KA5	14	91366489	Frame_Shift_Del	DEL	T	TCGA-3A-A9I9-01A-11D-A38G-08	20166429	91366489	15983051	112	3090											
EML1	2009	broad.mit.edu	37	chr14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgggactggcagaaagaaGaaaaactagcagatgtgaag	13	4	0	5			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000327921.9_Missense_Mutation_p.E350Q|EML1_ENST00000334192.4_Missense_Mutation_p.E381Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	362	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGAAAGAAGAAAAACTAGC	0.468																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1084-1086)Gaa>Caa		echinoderm microtubule associated protein like 1							100	102	102					14																	100374050		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100374050G>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1084G>C	14.37:g.100374050G>C	ENSP00000262233:p.Glu362Gln					EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q	p.E362Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			10	1223	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	362					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1084G>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911712	0.52439	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.46451	5.01;0.87;0.87;0.87	4.99	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.049952	0.85682	D	0.000000	T	0.44201	0.1282	N	0.25890	0.77	0.50813	D	0.999899	D;P;B;D;D	0.59767	0.975;0.911;0.029;0.986;0.957	P;B;B;P;B	0.57846	0.648;0.363;0.011;0.828;0.445	T	0.19712	-1.0297	10	0.21014	T	0.42	-24.9371	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	350;350;362;381;381	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Q	349;350;362;381;381	ENSP00000451346:E349Q;ENSP00000327384:E350Q;ENSP00000262233:E362Q;ENSP00000334314:E381Q	ENSP00000262233:E362Q	E	+	1	0	EML1	99443803	1.000000	0.71417	0.042000	0.18584	0.901000	0.52897	7.832000	0.86757	1.206000	0.43276	0.655000	0.94253	GAA		0.468	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		41	229	0	0	0	1	0	41	229					C	100374050	G	C	100374050	3	2	25	1	0	0	0	0	1	0	0	0	5114	943	33	5	1183	5	EML1	14	100374050	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	9007561	100374050	6975490	113	3091											
THBS1	7057	broad.mit.edu	37	chr15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaatgagctgaggcggcCtcccctatgctatcacaacg	11	14	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTGAGGCGGCCTCCCCTATGC	0.483																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(943-945)cCt>cTt		thrombospondin 1	Becaplermin(DB00102)						100	98	98					15																	39876541		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39876541C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.944C>T	15.37:g.39876541C>T	ENSP00000260356:p.Pro315Leu						p.P315L	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	6	1109	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	315					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.944C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268480	0.59540	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.88	5.88	0.94601	.	0.224139	0.22966	N	0.053490	T	0.78091	0.4229	M	0.61703	1.905	0.47214	D	0.999351	B	0.15141	0.012	B	0.14023	0.01	T	0.72883	-0.4157	10	0.59425	D	0.04	-2.5851	19.2015	0.93713	0.0:1.0:0.0:0.0	.	315	P07996	TSP1_HUMAN	L	315	ENSP00000260356:P315L	ENSP00000260356:P315L	P	+	2	0	THBS1	37663833	0.032000	0.19561	0.123000	0.21794	0.901000	0.52897	2.941000	0.49011	2.786000	0.95864	0.655000	0.94253	CCT		0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		47	242	0	0	0	1	0	47	242					T	39876541	C	T	39876541	3	4	25	1	0	0	0	0	1	0	0	0	15905	681	24	2	962	2	THBS1	15	39876541	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		39876541	62654851	114	3092											
RNF111	54778	broad.mit.edu	37	chr15	59359283	59359283	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagctatcatgaacagGtatgtggaatttgagtcagt	11	6	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000557998.1	+	6	1973		c.e6+1		RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000348370.4_Splice_Site|RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGAACAGGTATGTGGAAT	0.468																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e6+1		ring finger protein 111							95	87	90					15																	59359283		2192	4291	6483	SO:0001630	splice_region_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59359283G>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1686+1G>C	15.37:g.59359283G>C						RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site		NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	6	2119	+								C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Splice_Site	SNP	ENST00000557998.1	37		CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008992	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57146575	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.279000	0.89901	2.398000	0.81561	0.462000	0.41574	.		0.468	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	Intron	43	220	0	0	0	1	0	43	220					C	59359283	G	C	59359283	5	2	25	1	0	0	0	0	0	0	1	0	13475	1275	44	5	1705	5	RNF111	15	59359283	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	19482742	59359283	43172109	115	3093											
C15orf42	90381	broad.mit.edu	37	chr15	90150053	90150053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgaaagatacagtgCaaggtatactgttttctcag	10	7	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:90150053C>T	ENST00000268138.7	+	14	2824	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*|KIF7_ENST00000558928.1_5'Flank			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	907					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AGATACAGTGCAAGGTATACT	0.368																																						ENST00000268138.7																			0											c.(2719-2721)Caa>Taa		TOPBP1-interacting checkpoint and replication regulator							99	94	95					15																	90150053		1845	4087	5932	SO:0001587	stop_gained	90381							g.chr15:90150053C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2719C>T	15.37:g.90150053C>T	ENSP00000268138:p.Gln907*					TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*	p.Q907*							14	2824	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.2719C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	40	8.394003	0.98791	.	.	ENSG00000140534	ENST00000268138	.	.	.	6.17	6.17	0.99709	.	0.317816	0.32640	N	0.005829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.5716	18.0354	0.89301	0.0:1.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000268138:Q907X	Q	+	1	0	C15orf42	87951057	0.995000	0.38212	0.974000	0.42286	0.902000	0.53008	4.184000	0.58323	2.941000	0.99782	0.655000	0.94253	CAA		0.368	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		26	316	0	0	0	1	0	26	316					T	90150053	C	T	90150053	4	4	25	1	0	0	0	0	0	1	0	0	1801	711	25	2	2773	2	C15orf42	15	90150053	Nonsense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	30790770	90150053	12381339	116	3094											
ITFG3	83986	broad.mit.edu	37	chr16	313364	313364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgggcaggagctgAcgcctcgctggacacccaag	15	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	359						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCAGGAGCTGACGCCTCGCTG	0.652																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1075-1077)Acg>Tcg		integrin alpha FG-GAP repeat containing 3							44	53	50					16																	313364		2178	4270	6448	SO:0001583	missense	83986					integral to membrane		g.chr16:313364A>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1075A>T	16.37:g.313364A>T	ENSP00000382814:p.Thr359Ser					ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S	p.T359S			Q9H0X4	ITFG3_HUMAN			9	1526	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	359					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.1075A>T	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.312|2.312	-0.357614|-0.357614	0.05138|0.05138	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	4.23|4.23	-3.04|-3.04	0.05412|0.05412	Quinonprotein alcohol dehydrogenase-like (1);|.	1.032930|.	0.07604|.	N|.	0.924179|.	T|.	0.35068|.	0.0919|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.181;0.181|.	B;B|.	0.26693|.	0.072;0.072|.	T|.	0.39663|.	-0.9603|.	10|.	0.12430|.	T|.	0.62|.	-19.7556|-19.7556	6.642|6.642	0.22914|0.22914	0.5895:0.1307:0.2798:0.0|0.5895:0.1307:0.2798:0.0	.|.	359;359|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	S|C	359|50	ENSP00000382814:T359S;ENSP00000301679:T359S;ENSP00000397477:T359S;ENSP00000301678:T359S;ENSP00000411394:T359S|.	ENSP00000301678:T359S|.	T|X	+|+	1|3	0|0	ITFG3|ITFG3	253365|253365	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	-0.408000|-0.408000	0.07169|0.07169	-0.463000|-0.463000	0.06973|0.06973	0.459000|0.459000	0.35465|0.35465	ACG|TGA		0.652	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		26	236	0	0	0	1	0	26	236					T	313364	A	T	313364	3	4	25	1	0	0	0	0	1	0	0	0	7901	275	10	5	1101	5	ITFG3	16	313364	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		313364	90041389	117	3095											
WDR90	197335	broad.mit.edu	37	chr16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-													cgaccaaagcttccccggggCccccccagcctgcaagacag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:709106delC	ENST00000293879.4	+	25	3032	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Frame_Shift_Del_p.A1011fs			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3031-3033)gcfs		WD repeat domain 90							45	56	53					16																	709106		1960	4181	6141	SO:0001589	frameshift_variant	197335							g.chr16:709106delC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3032delC	16.37:g.709106delC	ENSP00000293879:p.Ala1011fs					WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			25	3124	+		Hepatocellular(780;0.0218)	1011					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Del	DEL	ENST00000293879.4	37	c.3032delC	CCDS42092.1																																																																																				0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		7	538						7	538	---	---	---	---	-	709106	C	-	709106	7	5	25	1	0	1	0	1	0	0	0	0	17391	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Del	DEL	C	TCGA-3A-A9I9-01A-11D-A38G-08	395742	709106	89645647	118	3096											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	652						7	652	---	---	---	---	-	1824300	TGC	-	1824298	7	5	25	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-3A-A9I9-01A-11D-A38G-08	1115192	1824298	88530455	119	3097											
PKD1	5310	broad.mit.edu	37	chr16	2165466	2165466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtagccctggccctgaCgtgcagccattggcgcaggc	15	15	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:2165466C>T	ENST00000262304.4	-	10	2218	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.T670T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	670	LDL-receptor class A; atypical.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGCCCTGACGTGCAGCCAT	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2008-2010)acG>acA		polycystic kidney disease 1 (autosomal dominant)							12	15	14					16																	2165466		2163	4255	6418	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165466C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2010G>A	16.37:g.2165466C>T						PKD1_ENST00000423118.1_Silent_p.T670T	p.T670T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			10	2218	-			670			LDL-receptor class A; atypical.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.2010G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	.	5.400	0.259040	0.10239	.	.	ENSG00000008710	ENST00000306101	.	.	.	4.65	-6.53	0.01866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5936	0.28035	0.0:0.3152:0.2329:0.4519	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1	2105467	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.318000	0.02705	-1.032000	0.03304	-0.259000	0.10710	.		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	54	0	0	0	1	0	3	54					T	2165466	C	T	2165466	2	4	25	1	0	0	0	0	0	0	0	1	12005	523	19	1		1	PKD1	16	2165466	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	341168	2165466	88189287	120	3098											
ABCC11	85320	broad.mit.edu	37	chr16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaacccttaccattgacGctgtgagtttcagctttaag	7	12	1	2	rs201784880		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	414	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TACCATTGACGCTGTGAGTTT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		17852	0.0		0.001	False		,,,				2504	0.0					ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1240-1242)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							124	103	110					16																	48248799		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48248799G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1241C>T	16.37:g.48248799G>A	ENSP00000378230:p.Ala414Val					ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V	p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			8	1590	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	414			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1241C>T	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924986	0.34002	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.95	2.93	0.34026	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.956055	0.08704	N	0.905962	D	0.88112	0.6349	L	0.42744	1.35	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.16722	0.001;0.016	T	0.76680	-0.2870	10	0.48119	T	0.1	0.4302	7.1914	0.25828	0.2178:0.0:0.7822:0.0	.	414;414	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	414	ENSP00000311326:A414V;ENSP00000349017:A414V;ENSP00000378231:A414V;ENSP00000378230:A414V;ENSP00000438530:A414V	ENSP00000311326:A414V	A	-	2	0	ABCC11	46806300	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.029000	0.41098	0.454000	0.26884	0.650000	0.86243	GCG		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		27	179	0	0	0	1	0	27	179					A	48248799	G	A	48248799	3	1	25	1	0	0	0	0	1	0	0	0	51	1087	38	1	2995	1	ABCC11	16	48248799	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	46083333	48248799	42105954	121	3099											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	368						9	368	---	---	---	---	-	57731887	GGA	-	57731885	7	5	25	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-3A-A9I9-01A-11D-A38G-08	9483086	57731885	32622868	122	3100											
C16orf70	80262	broad.mit.edu	37	chr16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagactcatggactgaggctCcaaagtatgaggttagccct	11	9	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	147										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GACTGAGGCTCCAAAGTATGA	0.512																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(439-441)Cca>Tca		chromosome 16 open reading frame 70							172	158	163					16																	67166803		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67166803C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.439C>T	16.37:g.67166803C>T	ENSP00000219139:p.Pro147Ser					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S	p.P147S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	6	627	+		Ovarian(137;0.192)	147					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.439C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294667	0.60086	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.10874	0.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45425	-0.9262	9	0.09084	T	0.74	-10.8823	18.1025	0.89510	0.0:1.0:0.0:0.0	.	222;147	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	147	.	ENSP00000219139:P147S	P	+	1	0	C16orf70	65724304	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.624000	0.83124	2.866000	0.98385	0.650000	0.86243	CCA		0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		108	666	0	0	0	1	0	108	666					T	67166803	C	T	67166803	3	4	25	1	0	0	0	0	1	0	0	0	1834	855	30	2	461	2	C16orf70	16	67166803	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	9434918	67166803	23187950	123	3101											
FAM65A	79567	broad.mit.edu	37	chr16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acactatgccaagccctaccCataccacagcaagccccact	4	19	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000379312.3	+	13	1961	c.1840C>G	c.(1840-1842)Cat>Gat	p.H614D	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.H630D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	614	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCCCTACCCATACCACAGC	0.547																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1888-1890)Cat>Gat		family with sequence similarity 65, member A							420	390	400					16																	67576517		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576517C>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1840C>G	16.37:g.67576517C>G	ENSP00000368614:p.His614Asp					FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|CTD-2012K14.3_ENST00000563083.1_RNA	p.H630D			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2108	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	614			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1888C>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.90|14.90	2.672180|2.672180	0.47781|0.47781	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	4.72|4.72	1.63|1.63	0.23807|0.23807	.|.	1.276350|.	0.05009|.	N|.	0.470630|.	T|T	0.16769|0.16769	0.0403|0.0403	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26400|.	0.039;0.039;0.039;0.148|.	B;B;B;B|.	0.19946|.	0.007;0.007;0.007;0.027|.	T|T	0.28267|0.28267	-1.0049|-1.0049	10|5	0.42905|.	T|.	0.14|.	0.0019|0.0019	6.4361|6.4361	0.21825|0.21825	0.0:0.6759:0.1505:0.1737|0.0:0.6759:0.1505:0.1737	.|.	624;630;614;630|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	D|R	614;610;630;624|604	ENSP00000368614:H614D;ENSP00000042381:H610D;ENSP00000400099:H630D|.	ENSP00000042381:H610D|.	H|P	+|+	1|2	0|0	FAM65A|FAM65A	66134018|66134018	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.112000|0.112000	0.19704|0.19704	0.853000|0.853000	0.27777|0.27777	0.178000|0.178000	0.19917|0.19917	0.436000|0.436000	0.28706|0.28706	CAT|CCA		0.547	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		121	1049	0	0	0	1	0	121	1049					G	67576517	C	G	67576517	3	3	25	1	0	0	0	0	1	0	0	0	5624	594	21	5	1874	5	FAM65A	16	67576517	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	409714	67576517	22778236	124	3102											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	315						8	315	---	---	---	---	-	69726422	CAG	-	69726420	7	5	25	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-3A-A9I9-01A-11D-A38G-08	2149903	69726420	20628333	125	3103											
DHX38	9785	broad.mit.edu	37	chr16	72138480	72138480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgggaatgtccccatcttCcacatccctggccgtacctt	7	15	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	702	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCCATCTTCCACATCCCTG	0.537																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2104-2106)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							250	189	210					16																	72138480		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72138480C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2106C>T	16.37:g.72138480C>T						DHX38_ENST00000536867.1_Intron	p.F702F	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			15	2615	+		Ovarian(137;0.125)	702			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2106C>T	CCDS10907.1																																																																																				0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		66	404	0	0	0	1	0	66	404					T	72138480	C	T	72138480	2	4	25	1	0	0	0	0	0	0	0	1	4527	854	30	2		2	DHX38	16	72138480	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	2412060	72138480	18216273	126	3104											
CDYL2	124359	broad.mit.edu	37	chr16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggttaattcgcttccGtttatgggaggtccccttgc	14	9	0	0	rs377184768		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000570137.2	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	106						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTCGCTTCCGTTTATGGGAG	0.557																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(316-318)Cgg>Tgg		chromodomain protein, Y-like 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69	69	69		316	4.2	1	16		69	0,8600		0,0,4300	no	missense	CDYL2	NM_152342.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	106/507	80718735	1,13005	2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718735G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.316C>T	16.37:g.80718735G>A	ENSP00000476295:p.Arg106Trp					CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	471	-			106					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.316C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327533	0.60743	2.27E-4	0.0	ENSG00000166446	ENST00000299564	T	0.59364	0.27	5.23	4.24	0.50183	.	0.412335	0.23696	N	0.045479	T	0.64394	0.2594	L	0.29908	0.895	0.49130	D	0.999755	D	0.89917	1.0	D	0.81914	0.995	T	0.67126	-0.5749	10	0.87932	D	0	.	13.7029	0.62620	0.0:0.0:0.7712:0.2288	.	106	Q8N8U2	CDYL2_HUMAN	W	106	ENSP00000299564:R106W	ENSP00000299564:R106W	R	-	1	2	CDYL2	79276236	0.995000	0.38212	1.000000	0.80357	0.702000	0.40608	0.199000	0.17237	2.713000	0.92767	0.655000	0.94253	CGG		0.557	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		52	221	0	0	0	1	0	52	221					A	80718735	G	A	80718735	3	1	25	1	0	0	0	0	1	0	0	0	3195	1144	40	1	1228	1	CDYL2	16	80718735	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8580255	80718735	9636018	127	3105											
ZNF778	197320	broad.mit.edu	37	chr16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcacctgcataaacatgGaagaattcacactgggcaga	8	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CATAAACATGGAAGAATTCAC	0.403																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1990-1992)gGa>gAa		zinc finger protein 778							48	52	50					16																	89294771		2174	4291	6465	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294771G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1991G>A	16.37:g.89294771G>A	ENSP00000405289:p.Gly664Glu					ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E|RP11-46C24.6_ENST00000563182.1_RNA	p.G664E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2323	+			664					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1991G>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993026	0.19043	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07327	3.2;3.2	1.21	-2.43	0.06522	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.01424	-0.875	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.40590	-0.9555	9	0.56958	D	0.05	.	2.2348	0.04005	0.3511:0.0:0.2421:0.4068	.	622;664	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	E	664;622	ENSP00000405289:G664E;ENSP00000305203:G622E	ENSP00000305203:G622E	G	+	2	0	ZNF778	87822272	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.083000	0.03397	-1.203000	0.02652	-0.534000	0.04291	GGA		0.403	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	128	0	0	0	1	0	4	128					A	89294771	G	A	89294771	3	1	25	1	0	0	0	0	1	0	0	0	18204	1174	41	2	2009	2	ZNF778	16	89294771	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8576036	89294771	1059982	128	3106											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	201	0	0	0	1	0	28	201					T	7577548	C	T	7577548	3	4	25	1	0	0	0	0	1	0	0	0	16434	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		7577548	73617662	129	3107											
MYH10	4628	broad.mit.edu	37	chr17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttagcaaatttaatacCcttcttctctgcttcttcca	2	13	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000269243.4	-	29	4045	c.3907G>T	c.(3907-3909)Ggt>Tgt	p.G1303C	MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000360416.3_Missense_Mutation_p.G1334C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1303					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTAATACCCTTCTTCTCT	0.408																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4000-4002)Ggt>Tgt		myosin, heavy chain 10, non-muscle							136	131	133					17																	8398511		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8398511C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3907G>T	17.37:g.8398511C>A	ENSP00000269243:p.Gly1303Cys					MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C|MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C	p.G1334C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			31	4138	-			1303					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4000G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118677	0.37436	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Myosin tail (1);	0.051033	0.85682	D	0.000000	T	0.66416	0.2787	N	0.13098	0.295	0.58432	D	0.999996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.005	T	0.63514	-0.6620	10	0.62326	D	0.03	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	1312;1334;1303	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	1303;1334;1324;1319	ENSP00000269243:G1303C;ENSP00000353590:G1334C;ENSP00000379539:G1324C;ENSP00000369315:G1319C	ENSP00000269243:G1303C	G	-	1	0	MYH10	8339236	0.212000	0.23540	0.973000	0.42090	0.977000	0.68977	0.960000	0.29253	2.688000	0.91661	0.655000	0.94253	GGT		0.408	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			11	222	1	0	2.27111e-07	1	2.39454e-07	11	222					A	8398511	C	A	8398511	3	1	25	1	0	0	0	0	1	0	0	0	10071	623	22	3	2075	3	MYH10	17	8398511	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	820963	8398511	72796699	130	3108											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			12	528						12	528	---	---	---	---	-	8415822	TTC	-	8415820	7	5	25	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-3A-A9I9-01A-11D-A38G-08	17309	8415820	72779390	131	3109											
KCNJ12	3768	broad.mit.edu	37	chr17	21318787	21318787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcgcaggtgccgcaacCgcttcgtcaagaagaatggc	14	13	1	2	rs144531040	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:21318787C>T	ENST00000583088.1	+	3	1028	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	45					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGCCGCAACCGCTTCGTCAA	0.602										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(133-135)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 12		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	145	104	118		133	5.2	1	17	dbSNP_134	118	0,8600		0,0,4300	yes	missense	KCNJ12	NM_021012.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	45/434	21318787	2,13004	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318787C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.133C>T	17.37:g.21318787C>T	ENSP00000463778:p.Arg45Cys	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	p.R45C	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1028	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.133C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885465	0.72410	4.54E-4	0.0	ENSG00000184185	ENST00000331718	T	0.62364	0.03	5.21	5.21	0.72293	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78650	-0.2121	10	0.87932	D	0	.	12.9232	0.58245	0.2733:0.7267:0.0:0.0	.	45	Q14500	IRK12_HUMAN	C	45	ENSP00000328150:R45C	ENSP00000328150:R45C	R	+	1	0	KCNJ12	21259380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.907000	0.56348	2.444000	0.82710	0.591000	0.81541	CGC		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	224	0	0	0	1	0	9	224					T	21318787	C	T	21318787	3	4	25	1	0	0	0	0	1	0	0	0	8076	652	23	1	135	1	KCNJ12	17	21318787	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	12902967	21318787	59876423	132	3110											
KIAA0100	9703	broad.mit.edu	37	chr17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaggagccaatctttaGctccgcctgcagcttccgct	11	14	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	42						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAATCTTTAGCTCCGCCTGC	0.473											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(124-126)Cta>Gta		KIAA0100							61	71	68					17																	26971150		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26971150G>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.124C>G	17.37:g.26971150G>C	ENSP00000436773:p.Leu42Val		OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	p.L42V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			2	198	-	Lung NSC(42;0.00431)		42					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.124C>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828801	0.32329	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.23552	1.9	5.32	1.1	0.20463	FMP27, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.992	T	0.01591	-1.1317	10	0.31617	T	0.26	.	8.9329	0.35682	0.3431:0.0:0.6569:0.0	.	42;42	F6XS94;Q14667	.;K0100_HUMAN	V	42	ENSP00000436773:L42V	ENSP00000005905:L42V	L	-	1	2	KIAA0100	23995277	1.000000	0.71417	0.919000	0.36401	0.996000	0.88848	2.540000	0.45727	0.062000	0.16340	0.655000	0.94253	CTA		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		83	507	0	0	0	1	0	83	507					C	26971150	G	C	26971150	3	2	25	1	0	0	0	0	1	0	0	0	8184	962	34	5	6735	5	KIAA0100	17	26971150	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	5652363	26971150	54224060	133	3111											
CDC27	996	broad.mit.edu	37	chr17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggctttgtttagggTatccaaagccttctctgatt	9	8	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S|CDC27_ENST00000527547.1_Missense_Mutation_p.T690S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	691					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGTTTAGGGTATCCAAAGCC	0.338																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(2071-2073)Acc>Tcc		cell division cycle 27							102	103	102					17																	45206848		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45206848T>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2071A>T	17.37:g.45206848T>A	ENSP00000066544:p.Thr691Ser					CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	p.T691S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			16	2164	-			691					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2071A>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878527	0.91740	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.79258	2.445	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;0.988;0.988;0.993	T	0.80074	-0.1534	10	0.49607	T	0.09	-10.4546	13.8853	0.63704	0.0:0.0:0.0:1.0	.	630;690;697;691	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	691;697;630;690	ENSP00000066544:T691S;ENSP00000434614:T697S;ENSP00000392802:T630S;ENSP00000437339:T690S	ENSP00000066544:T691S	T	-	1	0	CDC27	42561847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.032000	0.88838	2.156000	0.67533	0.460000	0.39030	ACC		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			16	461	0	0	0	1	0	16	461					A	45206848	T	A	45206848	3	1	25	1	0	0	0	0	1	0	0	0	3075	1638	57	5	419	5	CDC27	17	45206848	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	18235698	45206848	35988362	134	3112											
SCRN2	90507	broad.mit.edu	37	chr17	45916852	45916852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcccagctgtctccaGcacccacgcctcagtgcggt	10	18	2	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000290216.9	-	4	639	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000407215.3_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	172						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGTCTCCAGCACCCACGCC	0.622																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(514-516)Ctg>Ttg		secernin 2							68	63	65					17																	45916852		2203	4300	6503	SO:0001819	synonymous_variant	90507				proteolysis		dipeptidase activity	g.chr17:45916852G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.514C>T	17.37:g.45916852G>A						SCRN2_ENST00000290216.9_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L	p.L172L			Q96FV2	SCRN2_HUMAN			4	595	-			172					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	c.514C>T	CCDS11519.1																																																																																				0.622	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		50	299	0	0	0	1	0	50	299					A	45916852	G	A	45916852	2	1	25	1	0	0	0	0	0	0	0	1	13989	962	34	2		2	SCRN2	17	45916852	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	710004	45916852	35278358	135	3113											
PHOSPHO1	162466	broad.mit.edu	37	chr17	47301945	47301945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acggccgcagagccagcagtCcccgcgcatccggccccgac	12	20	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:47301945C>A	ENST00000310544.4	-	3	594	c.467G>T	c.(466-468)gGa>gTa	p.G156V	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	AGCCAGCAGTCCCCGCGCATC	0.701																																						ENST00000413580.1																			0											c.(541-543)gGa>gTa		phosphatase, orphan 1	Choline(DB00122)						8	9	9					17																	47301945		2174	4237	6411	SO:0001583	missense	0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47301945C>A	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.467G>T	17.37:g.47301945C>A	ENSP00000311925:p.Gly156Val					PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.G156V	p.G181V	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	959	-			156					E9PAM0|Q17RU6	Missense_Mutation	SNP	ENST00000310544.4	37	c.542G>T	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626389	0.87560	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.38	4.38	0.52667	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89151	0.3523	10	0.66056	D	0.02	.	15.7956	0.78407	0.0:0.864:0.136:0.0	.	156;181	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	V	156;181;181;156	ENSP00000311925:G156V;ENSP00000406909:G181V;ENSP00000427694:G181V;ENSP00000426095:G156V	ENSP00000311925:G156V	G	-	2	0	PHOSPHO1	44656944	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.292000	0.78731	2.510000	0.84645	0.462000	0.41574	GGA		0.701	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			7	26	1	0	5.18039e-06	1	5.34572e-06	7	26					A	47301945	C	A	47301945	3	1	25	1	0	0	0	0	1	0	0	0	11898	855	30	3	340	3	PHOSPHO1	17	47301945	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1385093	47301945	33893265	136	3114											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-													tgtcggtggtcaggggtcatCaggctgcagccacctcagag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	309					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGGGTCATCAGGCTGCAGCCACCTC	0.657																																						ENST00000311378.4																			1	Substitution - Missense(1)	p.A311S(1)	lung(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(925-933)cafs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2																																				SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917574_48917580delCAGGCTG	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.925_931delCAGGCTG	17.37:g.48917574_48917580delCAGGCTG	ENSP00000311184:p.Gln309fs					RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs	p.QAA309fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1453_1459	+			309					Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.925_931delCAGGCTG	CCDS11575.1																																																																																				0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		25	273						25	273	---	---	---	---	-	48917580	CAGGCTG	-	48917574	7	5	25	1	0	1	0	1	0	0	0	0	17413	827	29	0	931	0	WFIKKN2	17	48917574	Frame_Shift_Del	DEL	CAGGCTG	TCGA-3A-A9I9-01A-11D-A38G-08	1615629	48917574	32277636	137	3115											
MBTD1	54799	broad.mit.edu	37	chr17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaacagaaccagtcagatCcgtctgctgcttctgagcca	10	12	3	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	427					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCAGTCAGATCCGTCTGCTGC	0.428																																						ENST00000586178.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1279-1281)gGa>gAa		mbt domain containing 1							117	100	106					17																	49272667		2203	4300	6503	SO:0001583	missense	0				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49272667C>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1280G>A	17.37:g.49272667C>T	ENSP00000468304:p.Gly427Glu					MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	p.G427E	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		13	1623	-			427					Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1280G>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	34	5.328880	0.95733	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.40476	1.03	5.36	5.36	0.76844	.	0.105548	0.64402	D	0.000004	T	0.60818	0.2298	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	T	0.62267	-0.6890	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	427;263	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	E	427	ENSP00000403946:G427E	ENSP00000386072:G427E	G	-	2	0	MBTD1	46627666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.665000	0.90641	0.643000	0.83706	GGA		0.428	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			43	335	0	0	0	1	0	43	335					T	49272667	C	T	49272667	3	4	25	1	0	0	0	0	1	0	0	0	9401	855	30	2	626	2	MBTD1	17	49272667	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	355093	49272667	31922543	138	3116											
UTP18	51096	broad.mit.edu	37	chr17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctcatctgtgcagttccatCccggtgcacagattgtgatg	10	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCAGTTCCATCCCGGTGCACA	0.383																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(781-783)Ccc>Acc		UTP18 small subunit (SSU) processome component homolog (yeast)							92	93	93					17																	49353296		1912	4124	6036	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49353296C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.781C>A	17.37:g.49353296C>A	ENSP00000225298:p.Pro261Thr						p.P261T	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		6	838	+			261					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.781C>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656868	0.88154	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.25414	1.8	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61510	-0.7048	10	0.87932	D	0	-16.6136	18.8399	0.92180	0.0:1.0:0.0:0.0	.	261	Q9Y5J1	UTP18_HUMAN	T	261;237	ENSP00000225298:P261T	ENSP00000225298:P261T	P	+	1	0	UTP18	46708295	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	6.329000	0.72920	2.885000	0.99019	0.655000	0.94253	CCC		0.383	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		7	415	1	0	0.0381472	1	0.0381472	7	415					A	49353296	C	A	49353296	3	1	25	1	0	0	0	0	1	0	0	0	17152	855	30	3	803	3	UTP18	17	49353296	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	80629	49353296	31841914	139	3117											
RNF213	57674	broad.mit.edu	37	chr17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttgaagatggaatccGtagcgcccagctcattgcct	10	10	1	3	rs568680037		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000582970.1	+	31	10300	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3386					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGGAATCCGTAGCGCCCAG	0.353													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17790	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10156-10158)cGt>cAt		ring finger protein 213							97	98	98					17																	78324169		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78324169G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10157G>A	17.37:g.78324169G>A	ENSP00000464087:p.Arg3386His					RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	p.R3386H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		31	10300	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10157G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	5.030	0.191195	0.09547	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.17528	2.27	5.0	-1.62	0.08372	.	0.947517	0.08876	N	0.880757	T	0.06325	0.0163	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.22109	T	0.4	.	7.9091	0.29780	0.4707:0.0:0.4235:0.1057	.	1459	Q63HN8	RN213_HUMAN	H	3386;3435;1459	ENSP00000338218:R1459H	ENSP00000338218:R1459H	R	+	2	0	RNF213	75938764	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	0.460000	0.21924	-0.543000	0.06240	-0.285000	0.09966	CGT		0.353	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	324	0	0	0	1	0	21	324					A	78324169	G	A	78324169	3	1	25	1	0	0	0	0	1	0	0	0	13527	1145	40	1	10594	1	RNF213	17	78324169	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	28970873	78324169	2871041	140	3118											
PCYT2	5833	broad.mit.edu	37	chr17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaccatcttgtatctctCctcctgagtgaacaccgggg	9	14	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000331285.3_5'UTR	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	75					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TTGTATCTCTCCTCCTGAGTG	0.592																																						ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(223-225)Gag>Aag		phosphate cytidylyltransferase 2, ethanolamine							114	115	115					17																	79866869		2203	4296	6499	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79866869C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.223G>A	17.37:g.79866869C>T	ENSP00000439245:p.Glu75Lys					PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K|PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K	p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	331	-	all_neural(118;0.0878)|Ovarian(332;0.12)		75			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.223G>A	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206311	0.95033	.	.	ENSG00000185813	ENST00000538721;ENST00000538936	D;D	0.97256	-4.31;-4.31	4.25	4.25	0.50352	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.91140	3.18	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;0.999;1.0	D	0.99793	1.1032	10	0.87932	D	0	-43.1461	16.8397	0.85965	0.0:1.0:0.0:0.0	.	43;43;75;75	B7Z4W6;B7ZAS0;F5H8B1;Q99447	.;.;.;PCY2_HUMAN	K	75	ENSP00000442050:E75K;ENSP00000439245:E75K	ENSP00000442050:E75K	E	-	1	0	PCYT2	77460161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.330000	0.65899	2.197000	0.70478	0.561000	0.74099	GAG		0.592	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		34	211	0	0	0	1	0	34	211					T	79866869	C	T	79866869	3	4	25	1	0	0	0	0	1	0	0	0	11654	864	30	2	1048	2	PCYT2	17	79866869	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1542700	79866869	1328341	141	3119											
DLGAP1	9229	broad.mit.edu	37	chr18	3879577	3879577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggctggccttgcccccGttgacgctgcccttggacgg	14	15	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N|DLGAP1_ENST00000515196.2_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(490-492)aaC>aaT		discs, large (Drosophila) homolog-associated protein 1							55	65	61					18																	3879577		2202	4300	6502	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879577G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.492C>T	18.37:g.3879577G>A						DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.N164N	p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1087	-		Colorectal(8;0.0257)	164					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.492C>T	CCDS11836.1																																																																																				0.711	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			97	394	0	0	0	1	0	97	394					A	3879577	G	A	3879577	2	1	25	1	0	0	0	0	0	0	0	1	4575	1136	40	1		1	DLGAP1	18	3879577	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		3879577	74197671	142	3120											
KIAA1543	57662	broad.mit.edu	37	chr19	7673099	7673099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacctggccagtggggccGcgctggccgccaccatccac	14	17	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:7673099G>A	ENST00000160298.4	+	5	810	c.709G>A	c.(709-711)Gcg>Acg	p.A237T	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A264T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	237	CH.				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)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGTGGGGCCGCGCTGGCCGC	0.642																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(790-792)Gcg>Acg		calmodulin regulated spectrin-associated protein family, member 3							42	52	49					19																	7673099		2079	4198	6277	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.chr19:7673099G>A	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.709G>A	19.37:g.7673099G>A	ENSP00000160298:p.Ala237Thr					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A237T	p.A264T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			7	891	+			237			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.790G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.522820	0.85600	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.30182	1.54;1.57	4.89	4.89	0.63831	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.77486	2.375	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64326	-0.6434	10	0.87932	D	0	-19.3224	16.8335	0.85951	0.0:0.0:1.0:0.0	.	237;264	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	T	264;237	ENSP00000416797:A264T;ENSP00000160298:A237T	ENSP00000160298:A237T	A	+	1	0	KIAA1543	7579099	1.000000	0.71417	0.305000	0.25099	0.568000	0.35870	9.498000	0.97972	2.273000	0.75805	0.543000	0.68304	GCG		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		12	275	0	0	0	1	0	12	275					A	7673099	G	A	7673099	3	1	25	1	0	0	0	0	1	0	0	0	8273	1087	38	1	816	1	KIAA1543	19	7673099	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		7673099	51455884	143	3121											
FBN3	84467	broad.mit.edu	37	chr19	8190867	8190867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgcaacgcccgttgggAcagactcccgggaaggactc	13	13	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000270509.2_Silent_p.C880C|FBN3_ENST00000601739.1_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3	880	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCGTTGGGACAGACTCCCG	0.637																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2638-2640)tgT>tgC		fibrillin 3							64	56	59					19																	8190867		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190867A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2640T>C	19.37:g.8190867A>G						FBN3_ENST00000601739.1_Silent_p.C880C|FBN3_ENST00000270509.2_Silent_p.C880C	p.C880C			Q75N90	FBN3_HUMAN			22	3054	-			880			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.2640T>C	CCDS12196.1																																																																																				0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		29	184	0	0	0	1	0	29	184					G	8190867	A	G	8190867	2	3	25	1	0	0	0	0	0	0	0	1	5729	273	10	4		4	FBN3	19	8190867	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	517768	8190867	50938116	144	3122											
MUC16	94025	broad.mit.edu	37	chr19	9086442	9086457	+	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-													gtggacataagggtagctgaGctggactctgtccttgctga							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	ENST00000397910.4	-	1	5561_5576	c.5358_5373delAAGGACAGAGTCCAGC	c.(5356-5373)gcaaggacagagtccagcfs	p.ARTESS1786fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1786	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)				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						GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT	0.468																																						ENST00000397910.4																			0				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						c.(5356-5373)gcfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	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.5358_5373delAAGGACAGAGTCCAGC	19.37:g.9086442_9086457delGCTGGACTCTGTCCTT	ENSP00000381008:p.Ala1786fs						p.ARTESS1786fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5561_5576	-			1786			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.5358_5373delAAGGACAGAGTCCAGC	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	352						31	352	---	---	---	---	-	9086457	GCTGGACTCTGTCCTT	-	9086442	7	5	25	1	0	1	0	1	0	0	0	0	10014	962	34	0	38486	0	MUC16	19	9086442	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	TCGA-3A-A9I9-01A-11D-A38G-08	895575	9086442	50042541	145	3123											
FBXL12	54850	broad.mit.edu	37	chr19	9921950	9921950	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaagcctctgcagatagctGagctcctgcaggccagcatc	10	14	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	201					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCAGATAGCTGAGCTCCTGCA	0.667																																						ENST00000247977.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(601-603)ctC>ctT		F-box and leucine-rich repeat protein 12							32	32	32					19																	9921950		2199	4292	6491	SO:0001819	synonymous_variant	54850						protein binding	g.chr19:9921950G>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.603C>T	19.37:g.9921950G>A						FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000586651.1_3'UTR	p.L201L	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN			3	844	-			201					B3KSJ8|Q9H5K4	Silent	SNP	ENST00000247977.4	37	c.603C>T	CCDS12218.1																																																																																				0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		30	166	0	0	0	1	0	30	166					A	9921950	G	A	9921950	2	1	25	1	0	0	0	0	0	0	0	1	5733	1277	45	2		2	FBXL12	19	9921950	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	835508	9921950	49207033	146	3124											
MLL4	9757	broad.mit.edu	37	chr19	36220898	36220898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgaagcctggcgccAcggtgggctgctgcctgtcc	14	15	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:36220898A>G	ENST00000222270.7	+	23	4948	c.4948A>G	c.(4948-4950)Acg>Gcg	p.T1650A	KMT2B_ENST00000420124.1_Missense_Mutation_p.T1650A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1650					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTGGCGCCACGGTGGGCTG	0.642																																						ENST00000420124.1																			0											c.(4948-4950)Acg>Gcg									30	32	31					19																	36220898		2122	4231	6353	SO:0001583	missense	0							g.chr19:36220898A>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4948A>G	19.37:g.36220898A>G	ENSP00000222270:p.Thr1650Ala					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.T1650A	p.T1650A							23	4948	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4948A>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.068919	0.55539	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.71103	-0.54;-0.54	5.23	5.23	0.72850	Zinc finger, PHD-type (1);	0.000000	0.46145	D	0.000306	T	0.81758	0.4890	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83762	0.0215	10	0.87932	D	0	.	14.2408	0.65956	1.0:0.0:0.0:0.0	.	1650	Q9UMN6	MLL4_HUMAN	A	1650	ENSP00000222270:T1650A;ENSP00000398837:T1650A	ENSP00000222270:T1650A	T	+	1	0	AD000671.1	40912738	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.039000	0.93777	2.200000	0.70718	0.459000	0.35465	ACG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		17	124	0	0	0	1	0	17	124					G	36220898	A	G	36220898	3	3	25	1	0	0	0	0	1	0	0	0	9664	159	6	4	5038	4	MLL4	19	36220898	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	26298948	36220898	22908085	147	3125											
FCGBP	8857	broad.mit.edu	37	chr19	40408807	40408807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggcacggatctggccGttggccagcaccacgggcag	17	12	1	0	rs587708149	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.001					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4030-4032)aaC>aaT		Fc fragment of IgG binding protein							23	20	21					19																	40408807		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408807G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4032C>T	19.37:g.40408807G>A							p.N1344N	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4039	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1344			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4032C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	114	0	0	0	1	0	19	114					A	40408807	G	A	40408807	2	1	25	1	0	0	0	0	0	0	0	1	5803	1136	40	1		1	FCGBP	19	40408807	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4187909	40408807	18720176	148	3126											
MEGF8	1954	broad.mit.edu	37	chr19	42848986	42848986	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacctcccagcctgacaagGtgggtaggaggcgtggccct	14	12	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000251268.6	+	12	2097		c.e12+1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGACAAGGTGGGTAGGAG	0.542																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e12+1		multiple EGF-like-domains 8							60	61	61					19																	42848986		2203	4300	6503	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848986G>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2097+1G>C	19.37:g.42848986G>C						MEGF8_ENST00000251268.6_Splice_Site		NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2732	+		Prostate(69;0.00682)						A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37			.	.	.	.	.	.	.	.	.	.	g	16.72	3.201977	0.58234	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47540826	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.593000	0.90832	2.288000	0.76882	0.457000	0.33378	.		0.542	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Intron	31	368	0	0	0	1	0	31	368					C	42848986	G	C	42848986	5	2	25	1	0	0	0	0	0	0	1	0	9504	1275	44	5	2144	5	MEGF8	19	42848986	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2440179	42848986	16279997	149	3127											
ZC3H4	23211	broad.mit.edu	37	chr19	47585472	47585472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagttctcagctctggcGcaaaatccagtgatgtaaaa	11	9	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1297-1299)tgC>tgT		zinc finger CCCH-type containing 4							185	171	176					19																	47585472		1977	4171	6148	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47585472G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1299C>T	19.37:g.47585472G>A						ZC3H4_ENST00000594019.1_Intron	p.C433C	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	10	1336	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	433					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1299C>T	CCDS42582.1																																																																																				0.463	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			5	367	0	0	0	1	0	5	367					A	47585472	G	A	47585472	2	1	25	1	0	0	0	0	0	0	0	1	17623	1079	38	1		1	ZC3H4	19	47585472	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4736486	47585472	11543511	150	3128											
PPP2R1A	5518	broad.mit.edu	37	chr19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaccctggtgggaggcccaGagtacgtgcactgcctgctg	14	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	84	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGGAGGCCCAGAGTACGTGCA	0.607			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(250-252)Gag>Cag		protein phosphatase 2, regulatory subunit A, alpha							133	109	117					19																	52709296		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52709296G>C		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.250G>C	19.37:g.52709296G>C	ENSP00000324804:p.Glu84Gln					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron|PPP2R1A_ENST00000473455.2_3'UTR	p.E84Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	3	308	+			84			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.250G>C	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.630|8.630	0.893441|0.893441	0.17613|0.17613	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000454220;ENST00000423369;ENST00000322088|ENST00000391791	T;T|.	0.35048|.	1.33;1.33|.	3.23|3.23	2.2|2.2	0.27929|0.27929	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.225700|.	0.30455|.	N|.	0.009598|.	T|T	0.62792|0.62792	0.2457|0.2457	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.64597|0.64597	-0.6370|-0.6370	10|6	0.48119|0.87932	T|D	0.1|0	-26.2108|-26.2108	8.5769|8.5769	0.33603|0.33603	0.1188:0.0:0.8812:0.0|0.1188:0.0:0.8812:0.0	.|.	84;84|.	A8K7B7;P30153|.	.;2AAA_HUMAN|.	Q|H	124;84;84|62	ENSP00000391905:E124Q;ENSP00000324804:E84Q|.	ENSP00000324804:E84Q|ENSP00000375668:Q62H	E|Q	+|+	1|3	0|2	PPP2R1A|PPP2R1A	57401108|57401108	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.515000|0.515000	0.34225|0.34225	8.178000|8.178000	0.89690|0.89690	0.948000|0.948000	0.37687|0.37687	-0.339000|-0.339000	0.08088|0.08088	GAG|CAG		0.607	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		11	264	0	0	0	1	0	11	264					C	52709296	G	C	52709296	3	2	25	1	0	0	0	0	1	0	0	0	12429	943	33	5	260	5	PPP2R1A	19	52709296	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	5123824	52709296	6419687	151	3129											
BLCAP	10904	broad.mit.edu	37	chr20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagggcaggccgttaggtgCccacaacgccgggatcatgc	14	13	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000373537.2	-	2	571	c.257G>C	c.(256-258)gGc>gCc	p.G86A	NNAT_ENST00000346199.2_5'Flank|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000414542.2_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	86					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CCGTTAGGTGCCCACAACGCC	0.552																																						ENST00000414542.2																			0				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(256-258)gGc>gCc		bladder cancer associated protein							63	63	63					20																	36147320		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147320C>G	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.257G>C	20.37:g.36147320C>G	ENSP00000362637:p.Gly86Ala					BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A	p.G86A	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN			3	704	-		Myeloproliferative disorder(115;0.00878)	86					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.257G>C	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050067	0.75846	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.80108	-0.1520	8	0.87932	D	0	.	15.7067	0.77588	0.0:1.0:0.0:0.0	.	86	P62952	BLCAP_HUMAN	A	86	.	ENSP00000362637:G86A	G	-	2	0	BLCAP	35580734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.842000	0.69417	2.554000	0.86153	0.585000	0.79938	GGC		0.552	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698		39	240	0	0	0	1	0	39	240					G	36147320	C	G	36147320	3	3	25	1	0	0	0	0	1	0	0	0	1444	739	26	5	10	5	BLCAP	20	36147320	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		36147320	26878200	152	3130											
LPIN3	64900	broad.mit.edu	37	chr20	39977298	39977299	+	Frame_Shift_Ins	INS	-	-	G													gtgcacctcacccatcccttINSgggggggtctgtctggcttc					rs546459459		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:39977298_39977299insG	ENST00000373257.3	+	4	419_420	c.328_329insG	c.(328-330)tggfs	p.W110fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCCATCCCTTGGGGGGGTCTG	0.663																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(328-330)gggfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977298_39977299insG	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.335dupG	20.37:g.39977305_39977305dupG	ENSP00000362354:p.Trp110fs						p.G110fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			4	419_420	+		Myeloproliferative disorder(115;0.000739)	110					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.328_329insG	CCDS33469.1																																																																																				0.663	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		31	180						31	180	---	---	---	---	G	39977299	-	G	39977298	7	5	25	1	0	1	1	0	0	0	0	0	8958	1812	63	0	338	0	LPIN3	20	39977298	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	3829978	39977298	23048222	153	3131											
KCNK15	60598	broad.mit.edu	37	chr20	43374752	43374752	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagctggagcgcctggcgctCcaggctgagccccaccgcgc	15	17	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	67					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCTGGCGCTCCAGGCTGAGC	0.692																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(199-201)ctC>ctA		potassium channel, subfamily K, member 15							8	11	10					20																	43374752		2138	4236	6374	SO:0001819	synonymous_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43374752C>A	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.201C>A	20.37:g.43374752C>A							p.L67L	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			1	332	+		Myeloproliferative disorder(115;0.0122)	67					Q52LL3|Q9HBC8	Silent	SNP	ENST00000372861.3	37	c.201C>A	CCDS13337.1																																																																																				0.692	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	NM_022358		34	86	1	0	2.47316e-13	1	2.66551e-13	34	86					A	43374752	C	A	43374752	2	1	25	1	0	0	0	0	0	0	0	1	8092	842	30	3		3	KCNK15	20	43374752	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	3397454	43374752	19650768	154	3132											
DIDO1	11083	broad.mit.edu	37	chr20	61512310	61512310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagccgggctgcagggcGccgcaaggcggtgtgggcag	22	10	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCAGGGCGCCGCAAGGCG	0.726																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4996-4998)ggC>ggA		death inducer-obliterator 1							12	14	13					20																	61512310		2181	4255	6436	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512310G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4998C>A	20.37:g.61512310G>T						DIDO1_ENST00000395343.1_Silent_p.G1666G	p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5323	-	Breast(26;5.68e-08)		1666					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4998C>A	CCDS33506.1																																																																																				0.726	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		35	99	1	0	4.31634e-10	1	4.60093e-10	35	99					T	61512310	G	T	61512310	2	4	25	1	0	0	0	0	0	0	0	1	4538	1074	38	3		3	DIDO1	20	61512310	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	18137558	61512310	1513210	155	3133											
BRWD1	54014	broad.mit.edu	37	chr21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagtctccaatgaatTgttatcagaatcacttaaat	4	9	4	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000333229.2	-	40	5155	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1610					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATGAATTGTTATCAGAA	0.373											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4828-4830)Aat>Tat		bromodomain and WD repeat domain containing 1							62	67	66					21																	40571514		2203	4299	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571514T>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4828A>T	21.37:g.40571514T>A	ENSP00000330753:p.Asn1610Tyr		OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	894	BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y	p.N1610Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	4906	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1610					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4828A>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510435	0.64522	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.48;0.52;0.6	5.19	4.01	0.46588	.	0.410373	0.22711	N	0.056578	T	0.59088	0.2168	M	0.64997	1.995	0.80722	D	1	P;P	0.49185	0.92;0.561	P;B	0.51135	0.66;0.128	T	0.60840	-0.7183	10	0.72032	D	0.01	-9.7638	11.0953	0.48141	0.0:0.0:0.1544:0.8456	.	1610;1610	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	Y	1610	ENSP00000330753:N1610Y;ENSP00000344333:N1610Y;ENSP00000370178:N1610Y	ENSP00000330753:N1610Y	N	-	1	0	BRWD1	39493384	1.000000	0.71417	0.928000	0.36995	0.993000	0.82548	1.889000	0.39718	0.783000	0.33636	0.460000	0.39030	AAT		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		35	787	0	0	0	1	0	35	787					A	40571514	T	A	40571514	3	1	25	1	0	0	0	0	1	0	0	0	1529	1812	63	5	2385	5	BRWD1	21	40571514	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08		40571514	7558381	156	3134											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047922	46047922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccctgtgtgctcccgCccggcctgctacagcttctc	10	19	1	0	rs587735240		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	278						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGCTCCCGCCCGGCCTGCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		17931	0.0		0.0	False		,,,				2504	0.001					ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(832-834)cgC>cgT		keratin associated protein 10-9							61	75	70					21																	46047922		2193	4288	6481	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047922C>T	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.834C>T	21.37:g.46047922C>T						KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.R278R	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	883	+			278					A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.834C>T	CCDS42961.1																																																																																				0.692	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			58	335	0	0	0	1	0	58	335					T	46047922	C	T	46047922	2	4	25	1	0	0	0	0	0	0	0	1	8546	726	26	2		2	KRTAP10-9	21	46047922	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5476408	46047922	2081973	157	3135											
CACNG2	10369	broad.mit.edu	37	chr22	36962506	36962506	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaaagcagaatcacactCaggattgggaaaatgctgga	11	6	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	110					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAATCACACTCAGGATTGGGA	0.552																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(328-330)ctG>ctT		calcium channel, voltage-dependent, gamma subunit 2							90	82	85					22																	36962506		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36962506C>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.330G>T	22.37:g.36962506C>A							p.L110L	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			3	1311	-			110					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.330G>T	CCDS13931.1																																																																																				0.552	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			40	233	1	0	4.67007e-22	1	5.14769e-22	40	233					A	36962506	C	A	36962506	2	1	25	1	0	0	0	0	0	0	0	1	2564	813	29	3		3	CACNG2	22	36962506	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		36962506	14342060	158	3136											
ZNF157	7712	broad.mit.edu	37	chrX	47272834	47272834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgccttctatgtgaaAgtacgcctcattgaacatca	8	9	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	454					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTATGTGAAAGTACGCCTCA	0.438																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1360-1362)aaA>aaT		zinc finger protein 157							81	70	73					X																	47272834		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272834A>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1362A>T	X.37:g.47272834A>T	ENSP00000366273:p.Lys454Asn						p.K454N	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1448	+			454					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1362A>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	7.389	0.630476	0.14322	.	.	ENSG00000147117	ENST00000377073	T	0.13778	2.56	3.37	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28054	0.825	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.35895	-0.9770	9	0.26408	T	0.33	.	4.5131	0.11921	0.7149:0.0:0.2851:0.0	.	454	P51786	ZN157_HUMAN	N	454	ENSP00000366273:K454N	ENSP00000366273:K454N	K	+	3	2	ZNF157	47157778	0.000000	0.05858	0.678000	0.29963	0.998000	0.95712	-0.418000	0.07080	0.514000	0.28300	0.486000	0.48141	AAA		0.438	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		27	85	0	0	0	1	0	27	85					T	47272834	A	T	47272834	3	4	25	1	0	0	0	0	1	0	0	0	17790	69	3	5	1376	5	ZNF157	23	47272834	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		47272834	107997726	159	3137											
ELK1	2002	broad.mit.edu	37	chrX	47498346	47498346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcctccaaggggcttGgactggtgctcctgctcccc	13	15	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L|ELK1_ENST00000376983.3_Missense_Mutation_p.P201L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	201					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAAGGGGCTTGGACTGGTGCT	0.632																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(601-603)cCa>cTa		ELK1, member of ETS oncogene family							10	9	9					X																	47498346		2197	4263	6460	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47498346G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.602C>T	X.37:g.47498346G>A	ENSP00000247161:p.Pro201Leu					ELK1_ENST00000592066.1_Missense_Mutation_p.P147L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.P201L	p.P201L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			3	701	-			201					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.602C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734656	0.69189	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.44482	0.92;0.92	3.73	3.73	0.42828	.	0.322177	0.29355	N	0.012395	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44651	-0.9314	10	0.52906	T	0.07	.	10.0463	0.42188	0.0:0.0:1.0:0.0	.	201	P19419	ELK1_HUMAN	L	201	ENSP00000247161:P201L;ENSP00000366182:P201L	ENSP00000247161:P201L	P	-	2	0	ELK1	47383290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.925000	0.56484	2.122000	0.65172	0.529000	0.55759	CCA		0.632	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		11	13	0	0	0	1	0	11	13					A	47498346	G	A	47498346	3	1	25	1	0	0	0	0	1	0	0	0	5077	1348	47	2	700	2	ELK1	23	47498346	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	225512	47498346	107772214	160	3138											
SHROOM4	57477	broad.mit.edu	37	chrX	50350791	50350791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttctgctgctgggcTgcacgaaagagcctgtactt	12	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000289292.7	-	6	3634	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	SHROOM4_ENST00000376020.2_Silent_p.A1117A|SHROOM4_ENST00000460112.3_Silent_p.A1001A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1117					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					gctgctgGGCTGCACGAAAGA	0.577																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3349-3351)gcA>gcG		shroom family member 4							26	24	25					X																	50350791		2202	4299	6501	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350791T>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3351A>G	X.37:g.50350791T>C						SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000289292.7_Silent_p.A1117A	p.A1117A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3376	-	Ovarian(276;0.236)		1117					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.3351A>G	CCDS35277.1																																																																																				0.577	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		13	91	0	0	0	1	0	13	91					C	50350791	T	C	50350791	2	2	25	1	0	0	0	0	0	0	0	1	14346	1567	55	4		4	SHROOM4	23	50350791	Silent	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	2852445	50350791	104919769	161	3139											
MAGED2	10916	broad.mit.edu	37	chrX	54841940	54841940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagagtggcagtgccagcaCtggtgccagtaccagtacca	13	11	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:54841940C>A	ENST00000375068.1	+	12	1879	c.1646C>A	c.(1645-1647)aCt>aAt	p.T549N	MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Missense_Mutation_p.T531N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	549						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						agtgccagcactggtgccagt	0.597																																						ENST00000375068.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1645-1647)aCt>aAt		melanoma antigen family D, 2							33	27	29					X																	54841940		2197	4293	6490	SO:0001583	missense	10916							g.chrX:54841940C>A	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1646C>A	X.37:g.54841940C>A	ENSP00000364209:p.Thr549Asn					MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000343474.6_Missense_Mutation_p.T531N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000347546.3_Missense_Mutation_p.T493N	p.T549N			Q9UNF1	MAGD2_HUMAN			12	1879	+			549					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1646C>A	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	3.309	-0.141160	0.06669	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.42513	4.04;4.04;4.1;4.01;0.97;4.04;4.04;0.97;4.04	4.21	2.36	0.29203	.	0.474225	0.17920	N	0.157539	T	0.27629	0.0679	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20472	-1.0274	10	0.59425	D	0.04	.	8.9422	0.35736	0.4:0.6:0.0:0.0	.	464;549	Q5H907;Q9UNF1	.;MAGD2_HUMAN	N	549;549;493;531;464;549;549;464;549	ENSP00000364209:T549N;ENSP00000364193:T549N;ENSP00000336962:T493N;ENSP00000340290:T531N;ENSP00000364202:T464N;ENSP00000218439:T549N;ENSP00000364198:T549N;ENSP00000364200:T464N;ENSP00000379526:T549N	ENSP00000218439:T549N	T	+	2	0	MAGED2	54858665	0.007000	0.16637	0.001000	0.08648	0.045000	0.14185	0.681000	0.25320	0.314000	0.23086	0.513000	0.50165	ACT		0.597	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		9	22	1	0	1.58986e-06	1	1.66721e-06	9	22					A	54841940	C	A	54841940	3	1	25	1	0	0	0	0	1	0	0	0	9225	565	20	3	1688	3	MAGED2	23	54841940	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	4491149	54841940	100428620	162	3140											
MCART6	401612	broad.mit.edu	37	chrX	103349565	103349565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccacggcctccaccaCgccagacatgagcccggcag	12	17	0	2	rs112530678	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:103349565C>T	ENST00000357421.4	-	2	556	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	126					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCTCCACCACGCCAGACATG	0.582																																						ENST00000357421.4																			0											c.(376-378)Gtg>Atg		solute carrier family 25, member 53		G	MET/VAL	0,3835		0,0,0,1632,571	72	76	75		376	2.4	1	X	dbSNP_132	75	1,6727		0,0,1,2428,1871	no	missense	MCART6	NM_001012755.3	21	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	126/308	103349565	1,10562	2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349565C>T		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.376G>A	X.37:g.103349565C>T	ENSP00000361681:p.Val126Met						p.V126M	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	556	-			126					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.376G>A	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	t	11.65	1.702148	0.30232	0.0	1.49E-4	ENSG00000176274	ENST00000357421	T	0.79247	-1.25	4.18	2.39	0.29439	Mitochondrial carrier domain (2);	0.332828	0.27773	N	0.017902	T	0.66790	0.2825	L	0.48935	1.535	0.24669	N	0.993427	P	0.42993	0.797	B	0.40101	0.319	T	0.57757	-0.7756	10	0.36615	T	0.2	-49.9526	6.5896	0.22639	0.0:0.7041:0.185:0.1109	.	126	Q5H9E4	MCAR6_HUMAN	M	126	ENSP00000361681:V126M	ENSP00000361681:V126M	V	-	1	0	MCART6	103236221	0.001000	0.12720	1.000000	0.80357	0.987000	0.75469	0.066000	0.14489	0.906000	0.36621	-0.178000	0.13098	GTG		0.582	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		23	306	0	0	0	1	0	23	306					T	103349565	C	T	103349565	3	4	25	1	0	0	0	0	1	0	0	0	9412	536	19	1	551	1	MCART6	23	103349565	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	48507625	103349565	51920995	163	3141											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		8	758						8	758	---	---	---	---	-	149984526	GTG	-	149984524	7	5	25	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-3A-A9I9-01A-11D-A38G-08	46634959	149984524	5286036	164	3142											
GPR50	9248	broad.mit.edu	37	chrX	150345311	150345311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgatggttatcaccatcGttgtagacctaatcggcaac	10	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	40					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCACCATCGTTGTAGACCT	0.512																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(118-120)Gtt>Att		G protein-coupled receptor 50							146	141	142					X																	150345311		1909	4106	6015	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345311G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.118G>A	X.37:g.150345311G>A	ENSP00000218316:p.Val40Ile					GPR50-AS1_ENST00000454196.1_RNA	p.V40I	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	187	+	Acute lymphoblastic leukemia(192;6.56e-05)		40					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.118G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433766	0.12045	.	.	ENSG00000102195	ENST00000218316	T	0.37411	1.2	4.2	3.34	0.38264	.	0.154979	0.42821	N	0.000654	T	0.16257	0.0391	N	0.08118	0	0.30817	N	0.738223	B	0.24092	0.097	B	0.15870	0.014	T	0.09840	-1.0656	10	0.31617	T	0.26	-12.3268	7.0452	0.25042	0.1279:0.0:0.8721:0.0	.	40	Q13585	MTR1L_HUMAN	I	40	ENSP00000218316:V40I	ENSP00000218316:V40I	V	+	1	0	GPR50	150095969	0.914000	0.31030	0.782000	0.31804	0.022000	0.10575	1.373000	0.34272	0.789000	0.33779	0.292000	0.19580	GTT		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		103	368	0	0	0	1	0	103	368					A	150345311	G	A	150345311	3	1	25	1	0	0	0	0	1	0	0	0	6726	1145	40	1	120	1	GPR50	23	150345311	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	360787	150345311	4925249	165	3143											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	87						7	87	---	---	---	---	-	152087572	GAG	-	152087570	7	5	25	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-3A-A9I9-01A-11D-A38G-08	1742259	152087570	3182990	166	3144											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887241	12887241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctctggggaaacgtagcGagagacatccatgtgggaga	15	8	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:12887241G>A	ENST00000535591.1	-	3	811	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAACGTAGCGAGAGACATCC	0.493																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(616-618)Cgc>Tgc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887241G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.616C>T	1.37:g.12887241G>A	ENSP00000439551:p.Arg206Cys						p.R206C	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	811	-			206						Missense_Mutation	SNP	ENST00000535591.1	37	c.616C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	9.270	1.045480	0.19748	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.50813	0.73;0.73	1.14	-2.29	0.06805	.	1.275850	0.05537	N	0.565066	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.56916	0.809	T	0.10474	-1.0628	10	0.41790	T	0.15	.	0.2118	0.00157	0.2233:0.2342:0.2816:0.2609	.	206	O60813	PRA11_HUMAN	C	206;247;206	ENSP00000439551:R206C;ENSP00000391839:R206C	ENSP00000328783:R247C	R	-	1	0	PRAMEF11	12809828	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.054000	0.01399	-1.200000	0.02662	0.400000	0.26472	CGC		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		199	830	0	0	0	1	0	199	830					A	12887241	G	A	12887241	3	1	26	1	0	0	0	0	1	0	0	0	12474	1058	37	1	702	1	PRAMEF11	1	12887241	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		12887241	236363380	1	3145											
EIF2C4	192670	broad.mit.edu	37	chr1	36316600	36316600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcccctgcatattatgCccggcttgtagcatttaggg	10	12	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:36316600C>T	ENST00000373210.3	+	17	2668	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	808	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GCATATTATGCCCGGCTTGTA	0.448																																						ENST00000373210.3																			0											c.(2422-2424)gCc>gTc		argonaute RISC catalytic component 4							84	75	78					1																	36316600		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36316600C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2423C>T	1.37:g.36316600C>T	ENSP00000362306:p.Ala808Val					AGO4_ENST00000488778.1_3'UTR	p.A808V	NM_017629.3	NP_060099.2					17	2668	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2423C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154555	0.94686	.	.	ENSG00000134698	ENST00000373210	T	0.57595	0.39	5.4	5.4	0.78164	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92136	0.5716	10	0.87932	D	0	-11.3471	19.1712	0.93578	0.0:1.0:0.0:0.0	.	808	Q9HCK5	AGO4_HUMAN	V	808	ENSP00000362306:A808V	ENSP00000362306:A808V	A	+	2	0	EIF2C4	36089187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.526000	0.85167	0.591000	0.81541	GCC		0.448	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		4	107	0	0	0	1	0	4	107					T	36316600	C	T	36316600	3	4	26	1	0	0	0	0	1	0	0	0	5024	739	26	2	2489	2	EIF2C4	1	36316600	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	23429359	36316600	212934021	2	3146											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		12	287						12	287	---	---	---	---	-	46184898	AC	-	46184897	7	5	26	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-3A-A9IB-01A-21D-A397-08	9868297	46184897	203065724	3	3147											
WDR78	79819	broad.mit.edu	37	chr1	67303362	67303362	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttgtcaacagccagaTaaaaatgcttcttattcttg	6	7	3	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:67303362T>G	ENST00000371026.3	-	10	1637				WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371023.3_Missense_Mutation_p.I538L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AACAGCCAGATAAAAATGCTT	0.299																																						ENST00000371023.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1612-1614)Atc>Ctc		WD repeat domain 78							51	50	50					1																	67303362		2203	4300	6503	SO:0001627	intron_variant	79819							g.chr1:67303362T>G	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1581+30A>C	1.37:g.67303362T>G						WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371026.3_Intron	p.I538L	NM_207014.2	NP_996897.2	Q5VTH9	WDR78_HUMAN			10	1620	-			0					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1612A>C	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958846	0.34565	.	.	ENSG00000152763	ENST00000371023;ENST00000531552	T;T	0.30182	2.23;1.54	5.32	2.91	0.33838	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20773	-1.0265	7	0.87932	D	0	.	4.8925	0.13733	0.1666:0.0922:0.0:0.7412	.	.	.	.	L	538;160	ENSP00000360062:I538L;ENSP00000433037:I160L	ENSP00000360062:I538L	I	-	1	0	WDR78	67075950	0.592000	0.26832	0.047000	0.18901	0.027000	0.11550	1.159000	0.31749	0.919000	0.36945	0.533000	0.62120	ATC		0.299	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		59	176	0	0	0	1	0	59	176					G	67303362	T	G	67303362	1	3	26	0	1	0	0	0	0	0	0	0	17382	1406	49	4		4	WDR78	1	67303362	Intron	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	21118465	67303362	181947259	4	3148											
AMPD2	271	broad.mit.edu	37	chr1	110172959	110172959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaccggaatccgctaccGgagtacctgtcccgcggcct	10	16	1	0	rs368213563		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000393688.3_Silent_p.P631P|AMPD2_ENST00000528667.1_Silent_p.P750P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2248-2250)ccG>ccA		adenosine monophosphate deaminase 2							155	158	157					1																	110172959		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172959G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2250G>A	1.37:g.110172959G>A						AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000393688.3_Silent_p.P631P	p.P750P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2610	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	750					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.2250G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.875|6.875	0.530795|0.530795	0.13127|0.13127	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.66|4.66	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38735|0.38735	-0.9647|-0.9647	4|4	.|.	.|.	.|.	-21.0222|-21.0222	0.507|0.507	0.00589|0.00589	0.205:0.284:0.2159:0.2951|0.205:0.284:0.2159:0.2951	.|.	.|.	.|.	.|.	R|Q	721|139	.|.	.|.	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974482|109974482	0.000000|0.000000	0.05858|0.05858	0.630000|0.630000	0.29268|0.29268	0.705000|0.705000	0.40729|0.40729	-3.213000|-3.213000	0.00555|0.00555	-1.228000|-1.228000	0.02568|0.02568	-2.079000|-2.079000	0.00380|0.00380	GGA|CGG		0.617	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			125	538	0	0	0	1	0	125	538					A	110172959	G	A	110172959	2	1	26	1	0	0	0	0	0	0	0	1	586	1103	39	1		1	AMPD2	1	110172959	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	42869597	110172959	139077662	5	3149											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	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.S769S(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)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(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						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	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.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	1224	0	0	0	1	0	10	1224					A	152327955	G	A	152327955	2	1	26	1	0	0	0	0	0	0	0	1	5948	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	42154996	152327955	96922666	6	3150											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	8	275						8	275	---	---	---	---	A	165712551	-	A	165712550	8	5	26	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	13384595	165712550	83538071	7	3151											
GPR161	23432	broad.mit.edu	37	chr1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccagatctgccagaagGccgtgtagccaggctcccgg	12	15	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	190					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCAGAAGGCCGTGTAGCC	0.592																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(568-570)gCc>gTc		G protein-coupled receptor 161							71	60	64					1																	168066276		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066276G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.569C>T	1.37:g.168066276G>A	ENSP00000356812:p.Ala190Val					GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V	p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			5	882	-	all_hematologic(923;0.215)		190					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.569C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032295	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.102442	0.64402	N	0.000003	T	0.30665	0.0772	N	0.16098	0.37	0.38353	D	0.944394	B;B;B;B;B;B	0.13145	0.001;0.007;0.006;0.002;0.001;0.001	B;B;B;B;B;B	0.17722	0.003;0.019;0.018;0.006;0.001;0.005	T	0.08146	-1.0736	9	0.30078	T	0.28	-16.4128	12.5826	0.56399	0.0834:0.0:0.9166:0.0	.	210;76;112;210;190;190	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	190;190;58;190;76;112;210;190	ENSP00000356812:A190V;ENSP00000271357:A190V;ENSP00000356810:A58V;ENSP00000356809:A190V;ENSP00000444348:A76V;ENSP00000437576:A112V;ENSP00000441039:A210V;ENSP00000355194:A190V	ENSP00000271357:A190V	A	-	2	0	GPR161	166332900	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	4.756000	0.62205	1.242000	0.43836	0.561000	0.74099	GCC		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		24	112	0	0	0	1	0	24	112					A	168066276	G	A	168066276	3	1	26	1	0	0	0	0	1	0	0	0	6694	1203	42	2	1036	2	GPR161	1	168066276	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2353726	168066276	81184345	8	3152											
EPHX1	2052	broad.mit.edu	37	chr1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggaagttctccctggacGacctgctgaccaacgtcatg	10	14	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	353					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCTGGACGACCTGCTGAC	0.552																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1057-1059)Gac>Aac		epoxide hydrolase 1, microsomal (xenobiotic)							130	108	115					1																	226032215		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032215G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1057G>A	1.37:g.226032215G>A	ENSP00000355802:p.Asp353Asn					EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N|RP11-285F7.2_ENST00000424332.1_RNA	p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			8	1253	+	Breast(184;0.197)		353					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1057G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973433	0.92919	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.75704	-0.96;-0.96	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.90814	3.15	0.80722	D	1	D	0.60160	0.987	P	0.62649	0.905	D	0.90256	0.4297	10	0.72032	D	0.01	-22.9316	19.464	0.94931	0.0:0.0:1.0:0.0	.	353	P07099	HYEP_HUMAN	N	353	ENSP00000272167:D353N;ENSP00000355802:D353N	ENSP00000272167:D353N	D	+	1	0	EPHX1	224098838	1.000000	0.71417	0.800000	0.32199	0.506000	0.33950	7.817000	0.86213	2.686000	0.91538	0.561000	0.74099	GAC		0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		53	236	0	0	0	1	0	53	236					A	226032215	G	A	226032215	3	1	26	1	0	0	0	0	1	0	0	0	5197	1058	37	1	1083	1	EPHX1	1	226032215	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	57965939	226032215	23218406	9	3153											
OSR1	130497	broad.mit.edu	37	chr2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccggaaggctttgtgGcagatgtcacaggtgtaggg	16	8	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000272223.2	-	2	968	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000536433.1_Nonsense_Mutation_p.C208*	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	208					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGCTTTGTGGCAGATGTCAC	0.597																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(622-624)tgC>tgA		odd-skipped related transciption factor 1							95	93	94					2																	19552943		2203	4300	6503	SO:0001587	stop_gained	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552943G>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.624C>A	2.37:g.19552943G>T	ENSP00000272223:p.Cys208*					OSR1_ENST00000272223.2_Nonsense_Mutation_p.C208*	p.C208*			Q8TAX0	OSR1_HUMAN			1	3734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	208					B3KV97|D6W521	Nonsense_Mutation	SNP	ENST00000272223.2	37	c.624C>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.611580	0.98390	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	.	.	.	6.04	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.081	8.9124	0.35561	0.2346:0.0:0.7654:0.0	.	.	.	.	X	208	.	.	C	-	3	2	OSR1	19416424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.198000	0.32223	0.838000	0.34948	0.650000	0.86243	TGC		0.597	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		6	334	1	0	0.217242	1	0.218505	6	334					T	19552943	G	T	19552943	4	4	26	1	0	0	0	0	0	1	0	0	11335	1195	42	3	184	3	OSR1	2	19552943	Nonsense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		19552943	223646430	10	3154											
LTBP1	4052	broad.mit.edu	37	chr2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctggtcaaccccagctgtCtccaggcatttccactattc	7	16	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	826					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)			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)				CCCCAGCTGTCTCCAGGCATT	0.398																																						ENST00000404816.2																			0				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						c.(2476-2478)tCt>tTt		latent transforming growth factor beta binding protein 1							78	79	79					2																	33487847		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.chr2:33487847C>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.2477C>T	2.37:g.33487847C>T	ENSP00000386043:p.Ser826Phe					LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F	p.S826F			Q14766	LTBP1_HUMAN			14	2830	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	826					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2477C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372043	0.82573	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;T;T;T;T;T;T;T;T	0.81659	-1.52;-1.48;-1.42;-1.39;-1.4;-1.39;-1.4;1.66;0.2	5.29	5.29	0.74685	.	.	.	.	.	D	0.87030	0.6076	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.999;0.947;0.999;0.999;0.999	D	0.85468	0.1171	9	0.35671	T	0.21	.	18.0174	0.89246	0.0:1.0:0.0:0.0	.	826;500;447;500;500;826	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	826;826;500;500;447;447;500;154;143	ENSP00000386043:S826F;ENSP00000346467:S826F;ENSP00000374653:S500F;ENSP00000393057:S500F;ENSP00000384373:S447F;ENSP00000385359:S447F;ENSP00000384091:S500F;ENSP00000415412:S154F;ENSP00000417591:S143F	ENSP00000346467:S826F	S	+	2	0	LTBP1	33341351	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.160000	0.71862	2.490000	0.84030	0.650000	0.86243	TCT		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		23	164	0	0	0	1	0	23	164					T	33487847	C	T	33487847	3	4	26	1	0	0	0	0	1	0	0	0	9111	913	32	2	2586	2	LTBP1	2	33487847	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	13934904	33487847	209711526	11	3155											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134	134	134					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	381						7	381	---	---	---	---	-	39213243	T	-	39213243	7	5	26	1	0	1	0	1	0	0	0	0	14986	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	5725396	39213243	203986130	12	3156											
PSME4	23198	broad.mit.edu	37	chr2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T													ccttcggaaattggataaggINSttttttttacagtcatctgt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	646						8	646	---	---	---	---	T	54093345	-	T	54093344	7	5	26	1	0	1	1	0	0	0	0	0	12756	1261	44	0	121	0	PSME4	2	54093344	Frame_Shift_Ins	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	14880101	54093344	189106029	13	3157											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55	55	55					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		10	332						10	332	---	---	---	---	-	55549818	T	-	55549818	7	5	26	1	0	1	0	1	0	0	0	0	2870	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	1456474	55549818	187649555	14	3158											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	754						8	754	---	---	---	---	-	64778674	GAT	-	64778672	7	5	26	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-3A-A9IB-01A-21D-A397-08	9228854	64778672	178420701	15	3159											
C2orf89	129293	broad.mit.edu	37	chr2	85097426	85097426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctgtttcctcagccGctcagcctcctgggcaagga	10	16	3	0	rs372215440		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:85097426G>A	ENST00000409520.2	-	2	634	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	198					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										TTCCTCAGCCGCTCAGCCTCC	0.517																																						ENST00000335459.5																			0											c.(592-594)Cgg>Tgg		TraB domain containing 2A		G	TRP/ARG	1,4047		0,1,2023	141	145	144		592	-2.9	0.9	2		144	0,8388		0,0,4194	no	missense	C2orf89	NM_001080824.1	101	0,1,6217	AA,AG,GG		0.0,0.0247,0.0080	probably-damaging	198/457	85097426	1,12435	2024	4194	6218	SO:0001583	missense	129293							g.chr2:85097426G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.592C>T	2.37:g.85097426G>A	ENSP00000387075:p.Arg198Trp					TRABD2A_ENST00000409520.2_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	p.R198W	NM_001080824.1	NP_001074293.1					2	797	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.592C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886766	0.51908	2.47E-4	0.0	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.08546	3.08;3.08;3.08	3.14	-2.89	0.05665	.	0.087235	0.42172	N	0.000757	T	0.19167	0.0460	.	.	.	0.38592	D	0.950453	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.986;0.998	T	0.03268	-1.1054	9	0.87932	D	0	.	3.9367	0.09309	0.2008:0.0:0.343:0.4562	.	198;198;198	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	W	198	ENSP00000335004:R198W;ENSP00000387075:R198W;ENSP00000387183:R198W	ENSP00000335004:R198W	R	-	1	2	C2orf89	84950937	1.000000	0.71417	0.909000	0.35828	0.892000	0.51952	0.864000	0.27926	-1.188000	0.02705	-0.475000	0.04921	CGG		0.517	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		6	715	0	0	0	1	0	6	715					A	85097426	G	A	85097426	3	1	26	1	0	0	0	0	1	0	0	0	2210	1086	38	1	798	1	C2orf89	2	85097426	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	20318754	85097426	158101947	16	3160											
GPAT2	150763	broad.mit.edu	37	chr2	96690527	96690527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcaccccctaccttctgAtgcttgaagagcagcagcgt	9	13	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000453542.1_Silent_p.H403H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000377137.3_Silent_p.H474H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	474					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTACCTTCTGATGCTTGAAGA	0.652																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1420-1422)caT>caC		glycerol-3-phosphate acyltransferase 2, mitochondrial							120	130	126					2																	96690527		2044	4171	6215	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690527A>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1422T>C	2.37:g.96690527A>G						GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H	p.H474H			Q6NUI2	GPAT2_HUMAN			15	1881	-			474					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1422T>C	CCDS42714.1																																																																																				0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		25	675	0	0	0	1	0	25	675					G	96690527	A	G	96690527	2	3	26	1	0	0	0	0	0	0	0	1	6618	330	12	4		4	GPAT2	2	96690527	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	11593101	96690527	146508846	17	3161											
CNGA3	1261	broad.mit.edu	37	chr2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctttgtggtcgtagacttCttggtgggtgttctgatttt	12	6	3	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000272602.2	+	7	1194	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000393504.1_Missense_Mutation_p.F385L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	385					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCGTAGACTTCTTGGTGGGTG	0.498																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1153-1155)ttC>ttG		cyclic nucleotide gated channel alpha 3							79	81	80					2																	99012788		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012788C>G	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1155C>G	2.37:g.99012788C>G	ENSP00000272602:p.Phe385Leu					CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000272602.2_Missense_Mutation_p.F385L	p.F385L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1572	+			385					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1155C>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727449	0.30593	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.73598	2.24	0.58432	D	0.999997	B;B;B	0.31752	0.091;0.338;0.203	B;B;B	0.38194	0.147;0.267;0.255	D	0.94382	0.7605	10	0.32370	T	0.25	.	7.4961	0.27490	0.0:0.8252:0.0:0.1748	.	389;367;385	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	385;367;385;389	ENSP00000377140:F385L;ENSP00000410070:F367L;ENSP00000272602:F385L;ENSP00000386761:F389L	ENSP00000272602:F385L	F	+	3	2	CNGA3	98379220	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.525000	0.22956	2.620000	0.88729	0.563000	0.77884	TTC		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		72	232	0	0	0	1	0	72	232					G	99012788	C	G	99012788	3	3	26	1	0	0	0	0	1	0	0	0	3607	912	32	5	1181	5	CNGA3	2	99012788	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	2322261	99012788	144186585	18	3162											
BUB1	699	broad.mit.edu	37	chr2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccaaagatgagtgcaCagaatattctgatttagaaa	10	5	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000302759.6	-	8	779	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	BUB1_ENST00000535254.1_Missense_Mutation_p.V201M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	221					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GATGAGTGCACAGAATATTCT	0.368																																						ENST00000535254.1																			1	Complex - deletion inframe(1)	p.V221_S227>S(1)	kidney(1)	breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(601-603)Gtg>Atg		BUB1 mitotic checkpoint serine/threonine kinase							95	96	95					2																	111425242		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425242C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.661G>A	2.37:g.111425242C>T	ENSP00000302530:p.Val221Met					BUB1_ENST00000302759.6_Missense_Mutation_p.V221M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	p.V201M	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	7	668	-		Ovarian(717;0.0822)	221					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.601G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797928	0.50208	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32272	2.2;1.46;2.46	5.72	0.743	0.18347	.	1.042200	0.07470	N	0.902057	T	0.32496	0.0831	L	0.40543	1.245	0.09310	N	1	P;D;P	0.54047	0.955;0.964;0.874	P;P;B	0.53593	0.73;0.547;0.346	T	0.16571	-1.0398	10	0.32370	T	0.25	0.1037	3.7315	0.08495	0.293:0.4713:0.0:0.2356	.	201;221;221	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	M	201;221;221;221	ENSP00000441013:V201M;ENSP00000386701:V221M;ENSP00000302530:V221M	ENSP00000302530:V221M	V	-	1	0	BUB1	111141713	0.020000	0.18652	0.002000	0.10522	0.926000	0.56050	0.091000	0.15046	-0.140000	0.11394	0.650000	0.86243	GTG		0.368	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		68	347	0	0	0	1	0	68	347					T	111425242	C	T	111425242	3	4	26	1	0	0	0	0	1	0	0	0	1574	478	17	2	2668	2	BUB1	2	111425242	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	12412454	111425242	131774131	19	3163											
LY75	4065	broad.mit.edu	37	chr2	160738720	160738720	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctactgaaggctttgcatttCgcatgtgccttatcccagga	9	11	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:160738720C>A	ENST00000263636.4	-	7	1188	c.1161G>T	c.(1159-1161)gcG>gcT	p.A387A	LY75_ENST00000554112.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	387	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTGCATTTCGCATGTGCCT	0.423																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1159-1161)gcG>gcT		lymphocyte antigen 75							151	145	147					2																	160738720		2203	4300	6503	SO:0001819	synonymous_variant	4065							g.chr2:160738720C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1161G>T	2.37:g.160738720C>A						LY75_ENST00000554112.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A	p.A387A	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	7	1188	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.1161G>T	CCDS2211.1																																																																																				0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			121	618	1	0	2.84668e-63	1	3.07798e-63	121	618					A	160738720	C	A	160738720	2	1	26	1	0	0	0	0	0	0	0	1	9138	871	31	3		3	LY75	2	160738720	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	49313478	160738720	82460653	20	3164											
SCN3A	6328	broad.mit.edu	37	chr2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggcgaggtatgggtttctGaggtttcttggatccaagtt	15	5	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1505					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTTTCTGAGGTTTCTTG	0.388																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4513-4515)Cag>Gag		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						351	336	341					2																	165950907		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165950907G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4513C>G	2.37:g.165950907G>C	ENSP00000353206:p.Gln1505Glu					SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	p.Q1505E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			26	5004	-			1505					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4513C>G		.	.	.	.	.	.	.	.	.	.	G	16.64	3.178549	0.57692	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96104	-3.91;-3.91;-3.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	D	0.97192	0.9082	H	0.94808	3.585	0.80722	D	1	P;P;B	0.47841	0.901;0.502;0.005	P;B;B	0.45881	0.496;0.118;0.019	D	0.98609	1.0662	10	0.72032	D	0.01	.	18.2045	0.89850	0.0:0.0:1.0:0.0	.	1456;1456;1505	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1505;1505;1456	ENSP00000353206:Q1505E;ENSP00000283254:Q1505E;ENSP00000386726:Q1456E	ENSP00000283254:Q1505E	Q	-	1	0	SCN3A	165659153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.613000	0.88420	0.655000	0.94253	CAG		0.388	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		147	777	0	0	0	1	0	147	777					C	165950907	G	C	165950907	3	2	26	1	0	0	0	0	1	0	0	0	13968	1299	45	5	1501	5	SCN3A	2	165950907	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	5212187	165950907	77248466	21	3165											
LRP2	4036	broad.mit.edu	37	chr2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgaacacacttacccgGcaaaaggatgaactaccacc	6	13	0	2	rs369600443		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTTACCCGGCAAAAGGATG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15832	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2509-2511)gCc>gTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						117	114	115					2																	170115538		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115538G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2510C>T	2.37:g.170115538G>A	ENSP00000263816:p.Ala837Val					LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	p.A837V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2795	-			837					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2510C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	446	0	0	0	1	0	5	446					A	170115538	G	A	170115538	3	1	26	1	0	0	0	0	1	0	0	0	8994	1203	42	2	11709	2	LRP2	2	170115538	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	4164631	170115538	73083835	22	3166											
ITGA6	3655	broad.mit.edu	37	chr2	173356027	173356027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcgtctcttattttgCgctcgaggttatggaacagc	12	9	1	0	rs556687135		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:173356027C>T	ENST00000264106.6	+	23	3177	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C|ITGA6_ENST00000375221.2_Missense_Mutation_p.R992C|ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	992					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)			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)			TCTTATTTTGCGCTCGAGGTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19027	0.001		0.0	False		,,,				2504	0.0					ENST00000375221.2																			0				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						c.(2974-2976)Cgc>Tgc		integrin, alpha 6							135	134	135					2																	173356027		2203	4300	6503	SO:0001583	missense	0				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.chr2:173356027C>T		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.2974C>T	2.37:g.173356027C>T	ENSP00000264106:p.Arg992Cys					ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R992C	p.R992C			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3177	+			992					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2974C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671175	0.47781	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.21	5.21	0.72293	.	0.095115	0.64402	D	0.000002	T	0.55114	0.1900	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.954;0.969;0.969;0.977	T	0.62134	-0.6918	10	0.66056	D	0.02	.	13.6878	0.62526	0.1545:0.8455:0.0:0.0	.	948;977;953;953	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	C	834;953;992;992;948;953;992;948;120	ENSP00000386614:R834C;ENSP00000264107:R953C;ENSP00000264106:R992C;ENSP00000364369:R992C;ENSP00000341078:R948C;ENSP00000386896:R953C;ENSP00000406694:R992C;ENSP00000394169:R948C;ENSP00000388435:R120C	ENSP00000264106:R992C	R	+	1	0	ITGA6	173064273	1.000000	0.71417	0.982000	0.44146	0.210000	0.24377	2.670000	0.46833	2.432000	0.82394	0.467000	0.42956	CGC		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				6	555	0	0	0	1	0	6	555					T	173356027	C	T	173356027	3	4	26	1	0	0	0	0	1	0	0	0	7910	768	27	1	2943	1	ITGA6	2	173356027	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	3240489	173356027	69843346	23	3167											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116	104	108					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			9	297						9	297	---	---	---	---	-	191161629	T	-	191161629	7	5	26	1	0	1	0	1	0	0	0	0	7130	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	17805602	191161629	52037744	24	3168											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	9	6	2	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118	123	121					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	402	0	0	0	1	0	7	402					A	198367975	G	A	198367975	3	1	26	1	0	0	0	0	1	0	0	0	7459	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	7206346	198367975	44831398	25	3169											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	7	10	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244	257	253					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser					FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S	p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	1100	0	0	0	1	0	7	1100					T	10136015	C	T	10136015	3	4	26	1	0	0	0	0	1	0	0	0	5690	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		10136015	187886415	26	3170											
FBXO40	51725	broad.mit.edu	37	chr3	121341863	121341863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccatttccgtcccccaggGcaaaaggcaaaagtaatcta	7	12	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	529					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTCCCCCAGGGCAAAAGGCAA	0.498																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1585-1587)ggG>ggA		F-box protein 40							54	52	53					3																	121341863		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341863G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1587G>A	3.37:g.121341863G>A							p.G529G	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2001	+			529					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1587G>A	CCDS33835.1																																																																																				0.498	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		5	273	0	0	0	1	0	5	273					A	121341863	G	A	121341863	2	1	26	1	0	0	0	0	0	0	0	1	5774	1190	42	2		2	FBXO40	3	121341863	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	111205848	121341863	76680567	27	3171											
MYLK	4638	broad.mit.edu	37	chr3	123333078	123333078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttggcatcgtcatccccGcaaacatcactaataattaa	4	12	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:123333078G>A	ENST00000475616.1	-	31	5618	c.5619C>T	c.(5617-5619)tgC>tgT	p.C1873C	MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360772.3_Silent_p.C1822C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000354792.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5464-5466)tgC>tgT		myosin light chain kinase							189	187	188					3																	123333078		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333078G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5619C>T	3.37:g.123333078G>A						MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK-AS1_ENST00000463408.1_RNA	p.C1822C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5844	-		Lung NSC(201;0.0496)	1873			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5466C>T	CCDS46896.1																																																																																				0.498	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	733	0	0	0	1	0	6	733					A	123333078	G	A	123333078	2	1	26	1	0	0	0	0	0	0	0	1	10097	1079	38	1		1	MYLK	3	123333078	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1991215	123333078	74689352	28	3172											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	411	0	0	0	1	0	5	411					A	129370592	T	A	129370592	3	1	26	1	0	0	0	0	1	0	0	0	16044	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	6037514	129370592	68651838	29	3173											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		7	280						7	280	---	---	---	---	-	149260196	CTG	-	149260194	7	5	26	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-3A-A9IB-01A-21D-A397-08	19889602	149260194	48762236	30	3174											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108	110	110					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		7	534	0	0	0	1	0	7	534					T	152554482	C	T	152554482	3	4	26	1	0	0	0	0	1	0	0	0	11388	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	3294288	152554482	45467948	31	3175											
ACAP2	23527	broad.mit.edu	37	chr3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcttttcggaatctgCctggagcatgcaacttctaa	10	11	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCGGAATCTGCCTGGAGCATG	0.403																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1027-1029)Gca>Aca		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							126	126	126					3																	195027329		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027329C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1027G>A	3.37:g.195027329C>T	ENSP00000324287:p.Ala343Thr						p.A343T	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			13	1257	-			343			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1027G>A	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.136760|5.136760	0.94517|0.94517	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.78126|.	-1.15|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84552|0.84552	0.5497|0.5497	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86482|0.86482	0.1792|0.1792	10|5	0.87932|.	D|.	0|.	.|.	18.7846|18.7846	0.91949|0.91949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	Q15057|.	ACAP2_HUMAN|.	T|D	343|217	ENSP00000324287:A343T|.	ENSP00000324287:A343T|.	A|G	-|-	1|2	0|0	ACAP2|ACAP2	196508618|196508618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.609000|0.609000	0.83330|0.83330	GCA|GGC		0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		48	485	0	0	0	1	0	48	485					T	195027329	C	T	195027329	3	4	26	1	0	0	0	0	1	0	0	0	119	739	26	2	1353	2	ACAP2	3	195027329	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	42472847	195027329	2995101	32	3176											
LRCH3	84859	broad.mit.edu	37	chr3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagctgcaccgcagaggaaGaggaggccgaggtgagacag	17	9	0	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000425562.2	+	9	1156	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000438796.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	386	Poly-Glu.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		CGCAGAGGAAGAGGAGGCCGA	0.502																																						ENST00000438796.2																			0				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						c.(1156-1158)Gag>Cag		leucine-rich repeats and calponin homology (CH) domain containing 3							142	124	130					3																	197562598		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197562598G>C	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.1156G>C	3.37:g.197562598G>C	ENSP00000393579:p.Glu386Gln					LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000425562.2_Missense_Mutation_p.E386Q	p.E386Q			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)	9	1200	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		386			Poly-Glu.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1156G>C		.	.	.	.	.	.	.	.	.	.	G	24.0	4.481581	0.84747	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.38401	1.89;1.14;1.91;2.14;1.91	5.27	5.27	0.74061	.	0.057940	0.64402	D	0.000004	T	0.40222	0.1108	L	0.34521	1.04	0.80722	D	1	D;D;P;B	0.60160	0.987;0.958;0.817;0.27	P;P;P;B	0.52424	0.698;0.697;0.686;0.398	T	0.04621	-1.0938	10	0.16420	T	0.52	-10.8516	19.2996	0.94138	0.0:0.0:1.0:0.0	.	260;386;386;386	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	Q	386;260;386;386;386	ENSP00000399751:E386Q;ENSP00000394609:E260Q;ENSP00000394965:E386Q;ENSP00000334375:E386Q;ENSP00000393579:E386Q	ENSP00000334375:E386Q	E	+	1	0	LRCH3	199046995	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	8.533000	0.90617	2.642000	0.89623	0.644000	0.83932	GAG		0.502	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		37	402	0	0	0	1	0	37	402					C	197562598	G	C	197562598	3	2	26	1	0	0	0	0	1	0	0	0	8972	943	33	5	1190	5	LRCH3	3	197562598	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2535269	197562598	459832	33	3177											
CCDC149	91050	broad.mit.edu	37	chr4	24839847	24839847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaaagtgtcgcacgccGattgcttcgtctccgagcct	11	14	1	0	rs370337373		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000389609.4	-	6	563	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Silent_p.I140I	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GTCGCACGCCGATTGCTTCGT	0.483																																						ENST00000504487.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(418-420)atC>atT		coiled-coil domain containing 149		G	,	0,4406		0,0,2203	149	134	139		420,420	-4.9	0.5	4		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CCDC149	NM_001130726.2,NM_173463.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	140/530,140/530	24839847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24839847G>A		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.420C>T	4.37:g.24839847G>A						CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.I140I|CCDC149_ENST00000502801.1_Intron	p.I140I	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN			5	426	-		Breast(46;0.173)	140					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.420C>T	CCDS33967.2																																																																																				0.483	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		5	468	0	0	0	1	0	5	468					A	24839847	G	A	24839847	2	1	26	1	0	0	0	0	0	0	0	1	2790	1048	37	1		1	CCDC149	4	24839847	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		24839847	166314429	34	3178											
CHRNA9	55584	broad.mit.edu	37	chr4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtggcagaaatcatgcCggcctcagaaaatgtgcccc	11	11	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	291					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)			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)	GAAATCATGCCGGCCTCAGAA	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(871-873)cCg>cTg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						70	76	74					4																	40351405		2202	4300	6502	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351405C>T	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.872C>T	4.37:g.40351405C>T	ENSP00000312663:p.Pro291Leu						p.P291L	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1011	+			291					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.872C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355172	0.82243	.	.	ENSG00000174343	ENST00000310169	D	0.99382	-5.8	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97219	0.9876	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	291	Q9UGM1	ACHA9_HUMAN	L	291	ENSP00000312663:P291L	ENSP00000312663:P291L	P	+	2	0	CHRNA9	40046162	1.000000	0.71417	0.979000	0.43373	0.662000	0.39071	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCG		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	434	0	0	0	1	0	5	434					T	40351405	C	T	40351405	3	4	26	1	0	0	0	0	1	0	0	0	3398	652	23	1	886	1	CHRNA9	4	40351405	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	15511558	40351405	150802871	35	3179											
UBA6	55236	broad.mit.edu	37	chr4	68501258	68501258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatctaaaagaggcctTagatttgctaagcaacgact	8	9	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.5	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	585					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAGAGGCCTTAGATTTGCTA	0.358																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1753-1755)ctA>ctG		ubiquitin-like modifier activating enzyme 6							103	96	98					4																	68501258		2203	4300	6503	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68501258T>C	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1755A>G	4.37:g.68501258T>C							p.L585L	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			20	1814	-			585					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.1755A>G	CCDS3516.1																																																																																				0.358	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	326	0	0	0	1	0	4	326					C	68501258	T	C	68501258	2	2	26	1	0	0	0	0	0	0	0	1	16886	1741	61	4		4	UBA6	4	68501258	Silent	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	28149853	68501258	122653018	36	3180											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	401						8	401	---	---	---	---	-	146077125	CAG	-	146077123	7	5	26	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-3A-A9IB-01A-21D-A397-08	77575865	146077123	45077153	37	3181											
PCDHB7	56129	broad.mit.edu	37	chr5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgcggctcccggaggCggccccggaccaggccaact	13	18	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2026-2028)gCg>gTg									48	79	68					5																	140554443		2185	4283	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554443C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val						p.A676V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2201	+			676					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2027C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		72	563	0	0	0	1	0	72	563					T	140554443	C	T	140554443	3	4	26	1	0	0	0	0	1	0	0	0	11589	768	27	1	2029	1	PCDHB7	5	140554443	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		140554443	40360817	38	3182											
GEMIN5	25929	broad.mit.edu	37	chr5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactggtaatcttggccGtatgccctgagagggtccgg	13	12	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1915-1917)aCg>aTg		gem (nuclear organelle) associated protein 5							116	101	106					5																	154292538		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154292538G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1916C>T	5.37:g.154292538G>A	ENSP00000285873:p.Thr639Met						p.T639M	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	1991	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	639					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1916C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	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	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	306	0	0	0	1	0	5	306					A	154292538	G	A	154292538	3	1	26	1	0	0	0	0	1	0	0	0	6360	1145	40	1	2670	1	GEMIN5	5	154292538	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	13738095	154292538	26622722	39	3183											
DOCK2	1794	broad.mit.edu	37	chr5	169446049	169446049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgagctccggaaagcCaccataccaatcttcttcga	9	13	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A|DOCK2_ENST00000520908.1_Silent_p.A598A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1106	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)			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)			TCCGGAAAGCCACCATACCAA	0.453																																						ENST00000256935.8																			0				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						c.(3316-3318)gcC>gcA		dedicator of cytokinesis 2							197	195	196					5																	169446049		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:169446049C>A	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.3318C>A	5.37:g.169446049C>A						DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	p.A1106A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3398	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1106			Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3318C>A	CCDS4371.1																																																																																				0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		148	749	1	0	1.04528e-42	1	1.10941e-42	148	749					A	169446049	C	A	169446049	2	1	26	1	0	0	0	0	0	0	0	1	4703	581	21	3		3	DOCK2	5	169446049	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	15153511	169446049	11469211	40	3184											
CDHR2	54825	broad.mit.edu	37	chr5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccccatcgatgaccTcaccatggtggtctacgacc	8	17	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCGATGACCTCACCATGGTG	0.667																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1165-1167)cTc>cAc		cadherin-related family member 2							66	57	60					5																	176003158		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003158T>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1166T>A	5.37:g.176003158T>A	ENSP00000424565:p.Leu389His					CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1440	+			389			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1166T>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792906	0.70452	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.63255	-0.03;-0.03;-0.03	4.54	4.54	0.55810	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79879	0.4522	M	0.91972	3.26	0.53688	D	0.999978	D	0.67145	0.996	P	0.60345	0.873	D	0.84655	0.0703	9	0.87932	D	0	-24.7678	12.2853	0.54789	0.0:0.0:0.0:1.0	.	389	Q9BYE9	CDHR2_HUMAN	H	389	ENSP00000424565:L389H;ENSP00000261944:L389H;ENSP00000421078:L389H	ENSP00000261944:L389H	L	+	2	0	CDHR2	175935764	1.000000	0.71417	0.971000	0.41717	0.555000	0.35460	4.560000	0.60802	1.910000	0.55303	0.448000	0.29417	CTC		0.667	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		39	217	0	0	0	1	0	39	217					A	176003158	T	A	176003158	3	1	26	1	0	0	0	0	1	0	0	0	3128	1551	54	5	1208	5	CDHR2	5	176003158	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	6557109	176003158	4912102	41	3185											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552067	178552067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcattgcagtgcttggcGtgcacggagcgggtggtgtt	18	8	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2863-2865)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100	102	101					5																	178552067		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552067G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2865C>T	5.37:g.178552067G>A							p.H955H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2966	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	955			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2865C>T	CCDS4444.1																																																																																				0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	848	0	0	0	1	0	6	848					A	178552067	G	A	178552067	2	1	26	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552067	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2548909	178552067	2363193	42	3186											
NUP153	9972	broad.mit.edu	37	chr6	17669530	17669530	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatctcaacttacagaattCagaggagaagaaacaatgga	8	6	2	4			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTACAGAATTCAGAGGAGAAG	0.328																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1006-1008)ctG>ctA		nucleoporin 153kDa							50	55	53					6																	17669530		2202	4297	6499	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669530C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1008G>A	6.37:g.17669530C>T						NUP153_ENST00000537253.1_Silent_p.L336L	p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		7	1007	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	336					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1008G>A	CCDS4541.1																																																																																				0.328	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			85	360	0	0	0	1	0	85	360					T	17669530	C	T	17669530	2	4	26	1	0	0	0	0	0	0	0	1	10797	813	29	2		2	NUP153	6	17669530	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		17669530	153445537	43	3187											
BTN3A1	11119	broad.mit.edu	37	chr6	26413416	26413416	+	Frame_Shift_Del	DEL	A	A	-													gcggatgtgattctggatccAaaaacagcaaaccccatcct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:26413416delA	ENST00000289361.6	+	10	1406	c.1038delA	c.(1036-1038)ccafs	p.P346fs	BTN3A1_ENST00000414912.2_Frame_Shift_Del_p.P294fs|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTGGATCCAAAAACAGCAA	0.517																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1036-1038)ccfs		butyrophilin, subfamily 3, member A1							114	119	117					6																	26413416		2203	4300	6503	SO:0001589	frameshift_variant	0				lipid metabolic process	integral to membrane		g.chr6:26413416delA	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1038delA	6.37:g.26413416delA	ENSP00000289361:p.Pro346fs					BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Frame_Shift_Del_p.P294fs	p.P346fs	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1406	+			346			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Frame_Shift_Del	DEL	ENST00000289361.6	37	c.1038delA	CCDS4608.1																																																																																				0.517	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			8	476						8	476	---	---	---	---	-	26413416	A	-	26413416	7	5	26	1	0	1	0	1	0	0	0	0	1566	117	5	0	1240	0	BTN3A1	6	26413416	Frame_Shift_Del	DEL	A	TCGA-3A-A9IB-01A-21D-A397-08	8743886	26413416	144701651	44	3188											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		10	212						10	212	---	---	---	---	-	30653496	TGC	-	30653494	7	5	26	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-3A-A9IB-01A-21D-A397-08	4240078	30653494	140461573	45	3189											
TAP1	6890	broad.mit.edu	37	chr6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgaactgtaggcatggccGacagagcctcaatggccacc	11	13	1	1	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.S171L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	432	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGGCATGGCCGACAGAGCCTC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20882	0.0		0.0	False		,,,				2504	0.0					ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1294-1296)tCg>tTg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)		G	LEU/SER	6,4400	9.9+/-24.2	0,6,2197	80	84	82		1295	5.7	1	6	dbSNP_134	82	0,8600		0,0,4300	yes	missense	TAP1	NM_000593.5	145	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	432/809	32818230	6,13000	2203	4300	6503	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818230G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1295C>T	6.37:g.32818230G>A	ENSP00000346206:p.Ser432Leu					TAP1_ENST00000425148.2_Missense_Mutation_p.S171L|PSMB9_ENST00000395330.1_Intron	p.S432L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			5	1456	-			432			ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1295C>T	CCDS4758.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.420836	0.96111	0.001362	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91068	-2.78;-2.78	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38436	N	0.001686	D	0.92734	0.7690	M	0.79805	2.47	0.80722	D	1	P	0.52842	0.956	P	0.52189	0.692	D	0.93356	0.6722	10	0.72032	D	0.01	-5.2332	17.381	0.87405	0.0:0.0:1.0:0.0	.	432	Q03518	TAP1_HUMAN	L	432;171	ENSP00000346206:S432L;ENSP00000401919:S171L	ENSP00000346206:S432L	S	-	2	0	TAP1	32926208	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.503000	0.66962	2.706000	0.92434	0.643000	0.83706	TCG		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		4	206	0	0	0	1	0	4	206					A	32818230	G	A	32818230	3	1	26	1	0	0	0	0	1	0	0	0	15602	1059	37	1	1159	1	TAP1	6	32818230	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2164736	32818230	138296837	46	3190											
SYNGAP1	8831	broad.mit.edu	37	chr6	33419620	33419620	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcccccccagccccAccacccccaccccggctgca	8	26	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:33419620A>C	ENST00000418600.2	+	19	4070	c.3969A>C	c.(3967-3969)ccA>ccC	p.P1323P	SYNGAP1_ENST00000428982.2_Silent_p.P1264P|ZBTB9_ENST00000395064.2_5'Flank|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1323					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCCAGCCCCACCACCCCCAC	0.627																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(3967-3969)ccA>ccC		synaptic Ras GTPase activating protein 1							6	6	6					6																	33419620		2159	4223	6382	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33419620A>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3969A>C	6.37:g.33419620A>C						SYNGAP1_ENST00000428982.2_Silent_p.P1264P|SYNGAP1_ENST00000496374.1_3'UTR	p.P1323P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			19	4070	+			1323					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.3969A>C	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	21	0	0	0	1	0	4	21					C	33419620	A	C	33419620	2	2	26	1	0	0	0	0	0	0	0	1	15499	146	6	4		4	SYNGAP1	6	33419620	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	601390	33419620	137695447	47	3191											
DDX43	55510	broad.mit.edu	37	chr6	74115486	74115486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctgcacatttgatgaCgcctttcaatgttatcctga	6	12	1	3	rs369730596		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	245					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATTTGATGACGCCTTTCAAT	0.353																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(733-735)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43		C		0,4406		0,0,2203	93	86	88		735	1.4	1	6		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX43	NM_018665.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		245/649	74115486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74115486C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.735C>T	6.37:g.74115486C>T						DDX43_ENST00000539829.1_3'UTR	p.D245D	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			6	893	+			245					B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.735C>T	CCDS4977.1																																																																																				0.353	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		43	180	0	0	0	1	0	43	180					T	74115486	C	T	74115486	2	4	26	1	0	0	0	0	0	0	0	1	4374	535	19	1		1	DDX43	6	74115486	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	40695866	74115486	96999581	48	3192											
TTK	7272	broad.mit.edu	37	chr6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaattgccctgcggAatttaaacctccaaaaaaag	8	9	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000369798.2	+	5	667	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000509894.1_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	186					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGCCCTGCGGAATTTAAACCT	0.363																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(556-558)Aat>Tat		TTK protein kinase							60	69	66					6																	80720617		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720617A>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.556A>T	6.37:g.80720617A>T	ENSP00000358813:p.Asn186Tyr					TTK_ENST00000369798.2_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y	p.N186Y			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1385	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	186					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.556A>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415177	0.83449	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89123	-2.47;-2.47;-2.47	4.95	4.95	0.65309	.	0.090404	0.85682	D	0.000000	D	0.92061	0.7484	M	0.68952	2.095	0.50171	D	0.999852	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.93268	0.6649	10	0.87932	D	0	.	14.0796	0.64912	1.0:0.0:0.0:0.0	.	186;186	P33981;A8K8U5	TTK_HUMAN;.	Y	186	ENSP00000422936:N186Y;ENSP00000230510:N186Y;ENSP00000358813:N186Y	ENSP00000230510:N186Y	N	+	1	0	TTK	80777336	1.000000	0.71417	0.899000	0.35326	0.986000	0.74619	8.060000	0.89464	1.982000	0.57802	0.459000	0.35465	AAT		0.363	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			60	426	0	0	0	1	0	60	426					T	80720617	A	T	80720617	3	4	26	1	0	0	0	0	1	0	0	0	16774	246	9	5	570	5	TTK	6	80720617	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	6605131	80720617	90394450	49	3193											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	485	0	0	0	1	0	7	485					T	108214765	A	T	108214765	4	4	26	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	27494148	108214765	62900302	50	3194											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880693	111880693	+	Frame_Shift_Del	DEL	T	T	-													tcagcagccgcagcaggatgTtttttttattcttgggccag							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:111880693delT	ENST00000340026.6	-	10	2234	c.1640delA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Frame_Shift_Del_p.N126fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Del_p.N82fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Frame_Shift_Del_p.N538fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.N537fs|TRAF3IP2-AS1_ENST00000442928.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGCAGGATGTTTTTTTTATT	0.547																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)acfs		TRAF3 interacting protein 2							120	118	119					6																	111880693		2203	4300	6503	SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880693delT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1640delA	6.37:g.111880693delT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Del_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Del_p.N126fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000340026.6_Frame_Shift_Del_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Del	DEL	ENST00000340026.6	37	c.1613delA																																																																																					0.547	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			11	568						11	568	---	---	---	---	-	111880693	T	-	111880693	7	5	26	1	0	1	0	1	0	0	0	0	16494	1725	60	0	88	0	TRAF3IP2	6	111880693	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	3665928	111880693	59234374	51	3195											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-													ttccttgcttcacttcctgtCccccccacacagctgtcttt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236	227	230					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1268						7	1268	---	---	---	---	-	127767596	C	-	127767596	7	5	26	1	0	1	0	1	0	0	0	0	8204	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Del	DEL	C	TCGA-3A-A9IB-01A-21D-A397-08	15886903	127767596	43347471	52	3196											
BCLAF1	9774	broad.mit.edu	37	chr6	136599515	136599515	+	Frame_Shift_Del	DEL	T	T	-													tcttggggttccccttcagcTtttttggtttgtttttcctg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:136599515delT	ENST00000531224.1	-	4	756	c.504delA	c.(502-504)aaafs	p.K168fs	BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K166fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	168					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCCTTCAGCTTTTTTGGTTT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(502-504)aafs		BCL2-associated transcription factor 1							192	201	198					6																	136599515		2203	4300	6503	SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599515delT	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.504delA	6.37:g.136599515delT	ENSP00000435210:p.Lys168fs					BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K166fs	p.K168fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	756	-	Colorectal(23;0.24)		168					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.504delA	CCDS5177.1																																																																																				0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	1481						7	1481	---	---	---	---	-	136599515	T	-	136599515	7	5	26	1	0	1	0	1	0	0	0	0	1384	1606	56	0	2298	0	BCLAF1	6	136599515	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	8831919	136599515	34515552	53	3197											
AKAP12	9590	broad.mit.edu	37	chr6	151671524	151671524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggaagagccaaagccGgaagaaccaaagcgcaaggt	14	9	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000253332.1	+	3	2187	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000402676.2_Silent_p.P666P|AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000354675.6_Silent_p.P568P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCCAAAGCCGGAAGAACCAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1996-1998)ccG>ccA		A kinase (PRKA) anchor protein 12							84	80	81					6																	151671524		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671524G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1998G>A	6.37:g.151671524G>A						AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000253332.1_Silent_p.P666P|AKAP12_ENST00000354675.6_Silent_p.P568P	p.P666P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2238	+		Ovarian(120;0.125)	666					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.1998G>A	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			4	223	0	0	0	1	0	4	223					A	151671524	G	A	151671524	2	1	26	1	0	0	0	0	0	0	0	1	448	1103	39	1		1	AKAP12	6	151671524	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	15072009	151671524	19443543	54	3198											
FNDC1	84624	broad.mit.edu	37	chr6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacagacagtacaccgTgcgctatcgagagaaggggg	13	9	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	299	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGTACACCGTGCGCTATCGA	0.463																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(895-897)gTg>gCg		fibronectin type III domain containing 1							238	236	237					6																	159646578		1976	4164	6140	SO:0001583	missense	84624					extracellular region		g.chr6:159646578T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.896T>C	6.37:g.159646578T>C	ENSP00000297267:p.Val299Ala					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	p.V299A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1096	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	299			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.896T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101834	0.76983	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.68624	-0.34;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.86028	2.79	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84681	0.0717	10	0.87932	D	0	-20.4318	16.2108	0.82158	0.0:0.0:0.0:1.0	.	299;299	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	A	299	ENSP00000297267:V299A;ENSP00000342460:V299A	ENSP00000297267:V299A	V	+	2	0	FNDC1	159566566	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.603000	0.82811	2.232000	0.73038	0.533000	0.62120	GTG		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		138	492	0	0	0	1	0	138	492					C	159646578	T	C	159646578	3	2	26	1	0	0	0	0	1	0	0	0	5993	1696	59	4	926	4	FNDC1	6	159646578	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	7975054	159646578	11468489	55	3199											
C7orf57	136288	broad.mit.edu	37	chr7	48092369	48092371	+	In_Frame_Del	DEL	GCA	GCA	-													ggttataaggatgagtggttGcagcagcagcagcgagctga							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:48092369_48092371delGCA	ENST00000348904.3	+	7	890_892	c.678_680delGCA	c.(676-681)ttgcag>ttg	p.Q230del	C7orf57_ENST00000435376.1_In_Frame_Del_p.Q92del|C7orf57_ENST00000539619.1_In_Frame_Del_p.Q230del|C7orf57_ENST00000430738.1_In_Frame_Del_p.Q275del|C7orf57_ENST00000420324.1_In_Frame_Del_p.Q259del	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	230										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ATGAGTGGTTGCAGCAGCAGCAG	0.473																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(676-681)ttg>tt		chromosome 7 open reading frame 57																																				SO:0001651	inframe_deletion	136288							g.chr7:48092369_48092371delGCA	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.678_680delGCA	7.37:g.48092378_48092380delGCA	ENSP00000335500:p.Gln230del					C7orf57_ENST00000420324.1_In_Frame_Del_p.LQ255del|C7orf57_ENST00000430738.1_In_Frame_Del_p.LQ271del|C7orf57_ENST00000435376.1_In_Frame_Del_p.LQ88del|C7orf57_ENST00000539619.1_In_Frame_Del_p.LQ226del	p.LQ226del	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			7	890_892	+			226					C9JBJ8	In_Frame_Del	DEL	ENST00000348904.3	37	c.678_680delGCA	CCDS47583.1																																																																																				0.473	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		7	434						7	434	---	---	---	---	-	48092371	GCA	-	48092369	7	5	26	1	0	1	0	1	0	0	0	0	2411	1310	46	0	700	0	C7orf57	7	48092369	In_Frame_Del	DEL	GCA	TCGA-3A-A9IB-01A-21D-A397-08		48092369	111046294	56	3200											
STEAP2	261729	broad.mit.edu	37	chr7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-													tagctataagcttggccacaTtttttttcctttattccttt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108	103	105					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		9	491						9	491	---	---	---	---	-	89856465	T	-	89856465	7	5	26	1	0	1	0	1	0	0	0	0	15330	1493	52	0	679	0	STEAP2	7	89856465	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	41764096	89856465	69282198	57	3201											
ZNF789	285989	broad.mit.edu	37	chr7	99084376	99084376	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgaggatggcaaaccCttcaatcaaagatctttgct	8	8	3	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	181					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGGCAAACCCTTCAATCAAA	0.428																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(541-543)ccC>ccG		zinc finger protein 789							108	102	104					7																	99084376		2203	4300	6503	SO:0001819	synonymous_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084376C>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.543C>G	7.37:g.99084376C>G						ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	p.P181P	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	813	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		181					A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	c.543C>G	CCDS34693.1																																																																																				0.428	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	452	0	0	0	1	0	11	452					G	99084376	C	G	99084376	2	3	26	1	0	0	0	0	0	0	0	1	18213	668	24	5		5	ZNF789	7	99084376	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	9227911	99084376	60054287	58	3202											
DLD	1738	broad.mit.edu	37	chr7	107546792	107546792	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatggttgttattggtgcAggagtaataggtgtagaatt	14	1	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000437604.2_Silent_p.A173A|DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000537148.1_Silent_p.A122A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	221					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTATTGGTGCAGGAGTAATAG	0.348																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(661-663)gcA>gcC		dihydrolipoamide dehydrogenase	NADH(DB00157)						146	157	153					7																	107546792		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546792A>C	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.663A>C	7.37:g.107546792A>C						DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000437604.2_Silent_p.A173A|DLD_ENST00000440410.1_Silent_p.A198A	p.A221A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			8	944	+			221					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.663A>C	CCDS5749.1																																																																																				0.348	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		11	161	0	0	0	1	0	11	161					C	107546792	A	C	107546792	2	2	26	1	0	0	0	0	0	0	0	1	4567	175	7	4		4	DLD	7	107546792	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	8462416	107546792	51591871	59	3203											
FOXP2	93986	broad.mit.edu	37	chr7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatacctaccagtttaGgctatggagcagctcttaat	7	8	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000393494.2	+	15	2086	c.1807G>T	c.(1807-1809)Ggc>Tgc	p.G603C	FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000408937.3_Missense_Mutation_p.G628C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C			O15409	FOXP2_HUMAN	forkhead box P2	603					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TACCAGTTTAGGCTATGGAGC	0.303																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1882-1884)Ggc>Tgc		forkhead box P2							98	98	98					7																	114303542		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114303542G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1807G>T	7.37:g.114303542G>T	ENSP00000377132:p.Gly603Cys					FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393494.2_Missense_Mutation_p.G603C	p.G628C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			16	2256	+			603					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1882G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853517	0.51270	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92099	-2.71;-2.7;-2.71;-2.71;-2.79;-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.959;0.996;0.998	D	0.95345	0.8441	10	0.72032	D	0.01	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	602;620;418;603;628	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	C	603;628;620;603;580;511;418	ENSP00000377132:G603C;ENSP00000386200:G628C;ENSP00000385069:G620C;ENSP00000265436:G603C;ENSP00000377129:G511C;ENSP00000377130:G418C	ENSP00000265436:G603C	G	+	1	0	FOXP2	114090778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.486000	0.83907	0.650000	0.86243	GGC		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	397	1	0	0.000157383	1	0.000163038	6	397					T	114303542	G	T	114303542	3	4	26	1	0	0	0	0	1	0	0	0	6054	1000	35	3	2028	3	FOXP2	7	114303542	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	6756750	114303542	44835121	60	3204											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-													gcaccatttgctggaaccagCagcctcctcctctgagaccc					rs372908951		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gaagggtctcagaggaggaggctgfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	344					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1030-1053)gfs		tumor necrosis factor receptor superfamily, member 10a																																				SO:0001589	frameshift_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	8.37:g.23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENSP00000221132:p.Glu344fs						p.EGSQRRRL344fs	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	9	1095_1117	-		Prostate(55;0.0421)|Breast(100;0.14)	344					A8K5I4|Q53Y72|Q96E62	Frame_Shift_Del	DEL	ENST00000221132.3	37	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	CCDS6039.1																																																																																				0.556	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		20	376						20	376	---	---	---	---	-	23054701	CAGCCTCCTCCTCTGAGACCCTT	-	23054679	7	5	26	1	0	1	0	1	0	0	0	0	16332	697	25	0	361	0	TNFRSF10A	8	23054679	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	TCGA-3A-A9IB-01A-21D-A397-08		23054679	123309343	61	3205											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	272						8	272	---	---	---	---	-	30945379	AAG	-	30945377	7	5	26	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-3A-A9IB-01A-21D-A397-08	7890698	30945377	115418645	62	3206											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	70	0	0	0	1	0	11	70					G	41790659	T	G	41790659	2	3	26	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	10845282	41790659	104573363	63	3207											
PXDNL	137902	broad.mit.edu	37	chr8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-													cagtcagctgcacagacaccTttttcacccccaacgaactg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)aagfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				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)			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)				CACAGACACCTTTTTCACCCC	0.448																																						ENST00000356297.4																			0				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						c.(1492-1494)agfs		peroxidasin homolog (Drosophila)-like							169	167	167					8																	52359596		2017	4175	6192	SO:0001589	frameshift_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359596delT		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.1493delA	8.37:g.52359596delT	ENSP00000348645:p.Lys498fs					PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1593	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	498			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL	ENST00000356297.4	37	c.1493delA	CCDS47855.1																																																																																				0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	948						8	948	---	---	---	---	-	52359596	T	-	52359596	7	5	26	1	0	1	0	1	0	0	0	0	12898	1609	56	0	2946	0	PXDNL	8	52359596	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	10568937	52359596	94004426	64	3208											
ASPH	444	broad.mit.edu	37	chr8	62588724	62588726	+	Intron	DEL	TTC	TTC	-													acaccatctgcggtttcgctTtcttcttcttcttcttctag							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000518068.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	289						9	289	---	---	---	---	-	62588726	TTC	-	62588724	6	5	26	0	1	1	0	1	0	0	0	0	1054	1838	64	0		0	ASPH	8	62588724	Intron	DEL	TTC	TCGA-3A-A9IB-01A-21D-A397-08	10229128	62588724	83775298	65	3209											
BHLHE22	27319	broad.mit.edu	37	chr8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccggccggggccgccctttGcctcaagtacggcgaaagcg	15	15	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	126	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCCTTTGCCTCAAGTAC	0.746																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(376-378)tGc>tCc		basic helix-loop-helix family, member e22							4	5	5					8																	65493724		1552	3322	4874	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493724G>C	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.377G>C	8.37:g.65493724G>C	ENSP00000318799:p.Cys126Ser					RP11-21C4.1_ENST00000517909.1_RNA	p.C126S	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	911	+			126			Gly-rich.			Missense_Mutation	SNP	ENST00000321870.1	37	c.377G>C	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029659	0.54790	.	.	ENSG00000180828	ENST00000321870	D	0.98747	-5.11	3.19	3.19	0.36642	.	0.153691	0.43747	U	0.000527	D	0.98065	0.9362	L	0.29908	0.895	0.50039	D	0.999844	D	0.71674	0.998	D	0.73708	0.981	D	0.98433	1.0583	10	0.59425	D	0.04	.	14.4812	0.67585	0.0:0.0:1.0:0.0	.	126	Q8NFJ8	BHE22_HUMAN	S	126	ENSP00000318799:C126S	ENSP00000318799:C126S	C	+	2	0	BHLHE22	65656278	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	5.668000	0.68074	1.787000	0.52448	0.455000	0.32223	TGC		0.746	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		3	41	0	0	0	1	0	3	41					C	65493724	G	C	65493724	3	2	26	1	0	0	0	0	1	0	0	0	1423	1319	46	5	379	5	BHLHE22	8	65493724	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2905000	65493724	80870298	66	3210											
GRHL2	79977	broad.mit.edu	37	chr8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaaaggacagttctAtgccataacactcagcgaga	7	12	3	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	276					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGACAGTTCTATGCCATAACA	0.507																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(826-828)tAt>tGt		grainyhead-like 2 (Drosophila)							93	76	82					8																	102585988		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585988A>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.827A>G	8.37:g.102585988A>G	ENSP00000251808:p.Tyr276Cys					GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	p.Y276C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1165	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		276					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.827A>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501570	0.85176	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.38401	1.14;1.14	5.7	5.7	0.88788	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78107	-0.2333	10	0.87932	D	0	-14.6055	15.9541	0.79871	1.0:0.0:0.0:0.0	.	276;276	B4DL28;Q6ISB3	.;GRHL2_HUMAN	C	276;260;276	ENSP00000251808:Y276C;ENSP00000379260:Y260C	ENSP00000251808:Y276C	Y	+	2	0	GRHL2	102655164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.167000	0.68274	0.528000	0.53228	TAT		0.507	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		132	147	0	0	0	1	0	132	147					G	102585988	A	G	102585988	3	3	26	1	0	0	0	0	1	0	0	0	6794	449	16	4	849	4	GRHL2	8	102585988	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	37092264	102585988	43778034	67	3211											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000521676.1_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	12	364						12	364	---	---	---	---	T	124140521	-	T	124140520	8	5	26	1	0	1	1	0	0	0	1	0	17372	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	21554532	124140520	22223502	68	3212											
DOCK8	81704	broad.mit.edu	37	chr9	376273	376273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataagggagtatttaatattGaagtgcaagctgtttcttct	9	4	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000453981.1	+	19	2285	c.2173G>C	c.(2173-2175)Gaa>Caa	p.E725Q	DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E657Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	725	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTAATATTGAAGTGCAAGC	0.408																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1969-1971)Gaa>Caa		dedicator of cytokinesis 8							140	136	137					9																	376273		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376273G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2173G>C	9.37:g.376273G>C	ENSP00000408464:p.Glu725Gln					DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E725Q	p.E657Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2285	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	725					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1969G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176915	0.78564	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.56769	1.78	0.80722	D	1	D;B;P;B	0.76494	0.999;0.255;0.534;0.361	D;B;B;B	0.66847	0.947;0.314;0.369;0.393	T	0.58059	-0.7703	10	0.27785	T	0.31	.	19.8078	0.96537	0.0:0.0:1.0:0.0	.	27;657;192;725	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Q	725;725;657;657;27;192	ENSP00000408464:E725Q;ENSP00000394888:E657Q;ENSP00000419438:E657Q;ENSP00000371768:E27Q;ENSP00000371766:E192Q	ENSP00000287364:E725Q	E	+	1	0	DOCK8	366273	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.675000	0.98638	2.661000	0.90470	0.650000	0.86243	GAA		0.408	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		5	404	0	0	0	1	0	5	404					C	376273	G	C	376273	3	2	26	1	0	0	0	0	1	0	0	0	4709	1291	45	5	2247	5	DOCK8	9	376273	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		376273	140837158	69	3213											
CDKN2A	1029	broad.mit.edu	37	chr9	21974727	21974744	+	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-													tgcgttgggcagcgcccccgCctccagcagcgcccgcacct					rs540871544	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	ENST00000304494.5	-	1	353_370	c.83_100delTGCGGGCGCTGCTGGAGG	c.(82-102)gtgcgggcgctgctggaggcg>gcg	p.VRALLE28del	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCTAC	0.739		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1368	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(10)|Substitution - Missense(9)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Substitution - Nonsense(2)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)	haematopoietic_and_lymphoid_tissue(278)|skin(173)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(58)|oesophagus(57)|upper_aerodigestive_tract(53)|pleura(52)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|liver(8)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972118|CI003210|CM024658|CM950225	CDKN2A	D|I|M		c.(82-102)gcg>g		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83_100delTGCGGGCGCTGCTGGAGG	9.37:g.21974727_21974744delCCTCCAGCAGCGCCCGCA	ENSP00000307101:p.Val28_Glu33del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLEA28del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	p.VRALLEA28del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353_370	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.83_100delTGCGGGCGCTGCTGGAGG	CCDS6510.1																																																																																				0.739	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		61	312						61	312	---	---	---	---	-	21974744	CCTCCAGCAGCGCCCGCA	-	21974727	7	5	26	1	0	1	0	1	0	0	0	0	3170	739	26	0	583	0	CDKN2A	9	21974727	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	TCGA-3A-A9IB-01A-21D-A397-08	21598454	21974727	119238704	70	3214											
AKAP2	11217	broad.mit.edu	37	chr9	112899370	112899372	+	In_Frame_Del	DEL	CAG	CAG	-													tgctgctgcagaagcagttaCagcagcagcagcagcagccc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:112899370_112899372delCAG	ENST00000259318.7	+	2	1060_1062	c.853_855delCAG	c.(853-855)cagdel	p.Q290del	AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000374530.3_In_Frame_Del_p.Q521del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	290										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gaagcagttacagcagcagcagc	0.552																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1546-1548)del																																						SO:0001651	inframe_deletion	0						enzyme binding	g.chr9:112899370_112899372delCAG	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.853_855delCAG	9.37:g.112899379_112899381delCAG	ENSP00000259318:p.Gln290del					PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del	p.Q521del	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1726_1728	+			290					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000259318.7	37	c.1546_1548delCAG	CCDS48003.1																																																																																				0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		7	104						7	104	---	---	---	---	-	112899372	CAG	-	112899370	7	5	26	1	0	1	0	1	0	0	0	0	451	479	17	0	1126	0	AKAP2	9	112899370	In_Frame_Del	DEL	CAG	TCGA-3A-A9IB-01A-21D-A397-08	90924643	112899370	28314061	71	3215											
EPC1	80314	broad.mit.edu	37	chr10	32581568	32581568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggcttcatcatttttgCgattctgcaaatgtgaagtt	9	6	3	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:32581568C>T	ENST00000263062.8	-	5	940	c.671G>A	c.(670-672)cGc>cAc	p.R224H	EPC1_ENST00000375110.2_Missense_Mutation_p.R174H|EPC1_ENST00000319778.6_Missense_Mutation_p.R224H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	224					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCATTTTTGCGATTCTGCAA	0.313																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(670-672)cGc>cAc		enhancer of polycomb homolog 1 (Drosophila)							62	59	60					10																	32581568		2203	4299	6502	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581568C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.671G>A	10.37:g.32581568C>T	ENSP00000263062:p.Arg224His					EPC1_ENST00000263062.8_Missense_Mutation_p.R224H|EPC1_ENST00000375110.2_Missense_Mutation_p.R174H	p.R224H	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			5	973	-		Prostate(175;0.0199)	224					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.671G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441708	0.96187	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67345	-0.26;-0.26;-0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.90294	0.4325	10	0.87932	D	0	-6.4105	20.0627	0.97684	0.0:1.0:0.0:0.0	.	224;174;224;224	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	174;224;224	ENSP00000364251:R174H;ENSP00000318559:R224H;ENSP00000263062:R224H	ENSP00000263062:R224H	R	-	2	0	EPC1	32621574	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.794000	0.85869	2.807000	0.96579	0.591000	0.81541	CGC		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			4	242	0	0	0	1	0	4	242					T	32581568	C	T	32581568	3	4	26	1	0	0	0	0	1	0	0	0	5178	768	27	1	1883	1	EPC1	10	32581568	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		32581568	102953179	72	3216											
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|PLAU_ENST00000372762.4_Splice_Site_p.G118fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		8	1488						8	1488	---	---	---	---	-	75673298	A	-	75673298	6	5	26	0	1	1	0	1	0	0	0	0	12064	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-3A-A9IB-01A-21D-A397-08	43091730	75673298	59861449	73	3217											
MYST4	23522	broad.mit.edu	37	chr10	76788861	76788861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacgaggaccatgatgccGatgacgaggatgacagccac	12	11	0	3	rs533156310		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:76788861G>A	ENST00000287239.4	+	18	4768	c.4279G>A	c.(4279-4281)Gat>Aat	p.D1427N	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1427					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGATGCCGATGACGAGGA	0.493																																						ENST00000287239.4																			0											c.(4279-4281)Gat>Aat		K(lysine) acetyltransferase 6B							86	88	87					10																	76788861		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788861G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4279G>A	10.37:g.76788861G>A	ENSP00000287239:p.Asp1427Asn					KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N	p.D1427N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4768	+			1427					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4279G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577292	0.28092	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;D;T;T	0.81659	-1.47;-1.47;-1.52;-1.47;-1.49	4.81	4.81	0.61882	.	0.000000	0.51477	D	0.000087	D	0.87553	0.6206	L	0.55990	1.75	0.48830	D	0.999717	D;D;D	0.89917	0.999;0.976;1.0	D;P;D	0.76575	0.988;0.601;0.981	D	0.88934	0.3375	10	0.72032	D	0.01	-11.3528	17.489	0.87698	0.0:0.0:1.0:0.0	.	1244;1135;1427	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	1135;1135;1427;1135;1244	ENSP00000361810:D1135N;ENSP00000361809:D1135N;ENSP00000287239:D1427N;ENSP00000361799:D1135N;ENSP00000361796:D1244N	ENSP00000287239:D1427N	D	+	1	0	KAT6B	76458867	1.000000	0.71417	0.307000	0.25127	0.008000	0.06430	6.045000	0.71020	2.224000	0.72417	0.655000	0.94253	GAT		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		4	232	0	0	0	1	0	4	232					A	76788861	G	A	76788861	3	1	26	1	0	0	0	0	1	0	0	0	10146	1058	37	1	4341	1	MYST4	10	76788861	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1115563	76788861	58745886	74	3218											
ZNF518A	9849	broad.mit.edu	37	chr10	97918855	97918856	+	RNA	INS	-	-	A													tccacttttaaattcagaacINSaaaaaaaaactataattgtt							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:97918855_97918856insA	ENST00000534948.1	+	0	3633_3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATTCAGAACAAAAAAAAACT	0.347																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A																																						9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918855_97918856insA	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918864_97918864dupA										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	3633_3634	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	INS	ENST00000534948.1	37																																																																																						0.347	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		7	222						7	222	---	---	---	---	A	97918856	-	A	97918855	6	5	26	0	1	1	1	0	0	0	0	0	18015	479	17	0		0	ZNF518A	10	97918855	RNA	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	21129994	97918855	37615892	75	3219											
SEC31B	25956	broad.mit.edu	37	chr10	102267770	102267770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaatgtgttgggcttgCcggttccaagacagtgcctt	13	9	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		SEC31 homolog B (S. cerevisiae)							191	164	173					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T						SEC31B_ENST00000370329.5_Silent_p.R181R|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000531258.1_3'UTR	p.R178R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	631	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		6	506	0	0	0	1	0	6	506					T	102267770	C	T	102267770	2	4	26	1	0	0	0	0	0	0	0	1	14049	726	26	2		2	SEC31B	10	102267770	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	4348915	102267770	33266977	76	3220											
CHST15	51363	broad.mit.edu	37	chr10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcccctttttgaagcGcaaaaacccaccccagtttt	5	15	0	1	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85	75	79		217,217	4.8	1	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys					CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C	p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	859	-			73					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		6	408	0	0	0	1	0	6	408					A	125805512	G	A	125805512	3	1	26	1	0	0	0	0	1	0	0	0	3412	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	23537742	125805512	9729235	77	3221											
NAV2	89797	broad.mit.edu	37	chr11	19955389	19955389	+	Frame_Shift_Del	DEL	A	A	-													gcagctgtgcccgagatgccAaaaaagtcctccaagattgc					rs141566825	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:19955389delA	ENST00000396087.3	+	8	1767	c.1668delA	c.(1666-1668)ccafs	p.P556fs	NAV2_ENST00000360655.4_Frame_Shift_Del_p.P469fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.P487fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.P485fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.P533fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.P533fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	556					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)			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						CCGAGATGCCAAAAAAGTCCT	0.557																																						ENST00000396085.1																			0				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						c.(1597-1599)ccfs		neuron navigator 2							87	98	94					11																	19955389		2198	4292	6490	SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955389delA	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.1668delA	11.37:g.19955389delA	ENSP00000379396:p.Pro556fs					NAV2_ENST00000349880.4_Frame_Shift_Del_p.P533fs|NAV2_ENST00000396087.3_Frame_Shift_Del_p.P556fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.P485fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.P469fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.P487fs	p.P533fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1960	+			556					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	ENST00000396087.3	37	c.1599delA	CCDS58126.1																																																																																				0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	471						9	471	---	---	---	---	-	19955389	A	-	19955389	7	5	26	1	0	1	0	1	0	0	0	0	10225	117	5	0	1704	0	NAV2	11	19955389	Frame_Shift_Del	DEL	A	TCGA-3A-A9IB-01A-21D-A397-08		19955389	115051127	78	3222											
SLC5A12	159963	broad.mit.edu	37	chr11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaaggatgccccaaagCggtagacttcagaaggggtc	14	9	1	2	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512																																						ENST00000396005.3																			2	Substitution - Missense(2)	p.R76L(2)	lung(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(226-228)cGc>cAc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91	92	92		227	5.6	1	11	dbSNP_134	92	0,8598		0,0,4299	no	missense	SLC5A12	NM_178498.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	76/619	26743035	1,13003	2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743035C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.227G>A	11.37:g.26743035C>T	ENSP00000379326:p.Arg76His					SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	536	-			76					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.227G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467643	0.63625	2.27E-4	0.0	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87966	-2.32;-2.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.73962	2.25	0.53688	D	0.99997	B;P	0.50617	0.227;0.937	B;P	0.47015	0.082;0.534	D	0.88612	0.3157	10	0.35671	T	0.21	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	76;76	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	H	76	ENSP00000379326:R76H;ENSP00000280467:R76H	ENSP00000280467:R76H	R	-	2	0	SLC5A12	26699611	0.985000	0.35326	1.000000	0.80357	0.898000	0.52572	2.683000	0.46943	2.643000	0.89663	0.585000	0.79938	CGC		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		50	221	0	0	0	1	0	50	221					T	26743035	C	T	26743035	3	4	26	1	0	0	0	0	1	0	0	0	14714	768	27	1	1689	1	SLC5A12	11	26743035	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	6787646	26743035	108263481	79	3223											
RTN3	10313	broad.mit.edu	37	chr11	63449189	63449189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgtccgcgcccggcggCggcgggagcccaggagcctg	19	16	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000356000.3_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	27					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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CGCCCGGCGGCGGCGGGAGCC	0.746																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(79-81)ggC>ggT		reticulon 3							10	14	13					11																	63449189		2093	4136	6229	SO:0001819	synonymous_variant	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.chr11:63449189C>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.81C>T	11.37:g.63449189C>T						RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G	p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			1	235	+			27					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.81C>T	CCDS58141.1																																																																																				0.746	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		30	123	0	0	0	1	0	30	123					T	63449189	C	T	63449189	2	4	26	1	0	0	0	0	0	0	0	1	13777	755	27	1		1	RTN3	11	63449189	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	36706154	63449189	71557327	80	3224											
MMP13	4322	broad.mit.edu	37	chr11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtggccgaactcatgcGcagcaacaagaaacaagttg	12	9	1	1	rs147544761	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.0					ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(661-663)gCg>gTg		matrix metallopeptidase 13 (collagenase 3)		G	VAL/ALA	3,4401	8.1+/-20.4	0,3,2199	140	135	137		662	5.8	1	11	dbSNP_134	137	0,8598		0,0,4299	yes	missense	MMP13	NM_002427.3	64	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	221/472	102822878	3,12999	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822878G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.662C>T	11.37:g.102822878G>A	ENSP00000260302:p.Ala221Val					MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	690	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	221					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.662C>T	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	521	0	0	0	1	0	7	521					A	102822878	G	A	102822878	3	1	26	1	0	0	0	0	1	0	0	0	9693	1087	38	1	777	1	MMP13	11	102822878	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	39373689	102822878	32183638	81	3225											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	10	3	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(241-243)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							155	150	152					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp					MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	691	0	0	0	1	0	7	691					T	102826101	C	T	102826101	3	4	26	1	0	0	0	0	1	0	0	0	9693	739	26	2	1209	2	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	3223	102826101	32180415	82	3226											
B4GALNT3	283358	broad.mit.edu	37	chr12	662878	662878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaagtggtggcggccGcaggccaggaaggacaagtg	20	7	0	0	rs202219145		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	597					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTGGCGGCCGCAGGCCAGGA	0.617																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1789-1791)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 3							35	34	35					12																	662878		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662878G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1789G>A	12.37:g.662878G>A	ENSP00000266383:p.Ala597Thr						p.A597T	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1802	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		597					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1789G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631635	0.14322	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.46;1.45	5.63	2.78	0.32641	.	0.762765	0.12432	N	0.469495	T	0.23886	0.0578	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.001	T	0.30357	-0.9981	10	0.18276	T	0.48	-0.4872	7.5465	0.27770	0.0673:0.2194:0.601:0.1124	.	500;597	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	597;500	ENSP00000266383:A597T;ENSP00000322953:A500T	ENSP00000266383:A597T	A	+	1	0	B4GALNT3	533139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.620000	0.24403	0.309000	0.22966	-1.332000	0.01269	GCA		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	227	0	0	0	1	0	4	227					A	662878	G	A	662878	3	1	26	1	0	0	0	0	1	0	0	0	1269	1087	38	1	1843	1	B4GALNT3	12	662878	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		662878	133189017	83	3227											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		66	243	0	0	0	1	0	66	243					T	25398284	C	T	25398284	3	4	26	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	24735406	25398284	108453611	84	3228											
DIP2B	57609	broad.mit.edu	37	chr12	51121500	51121500	+	Frame_Shift_Del	DEL	A	A	-													tggcagatgatttacccaggAaaaggttacctcagctgtat							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:51121500delA	ENST00000301180.5	+	29	3449	c.3415delA	c.(3415-3417)aaafs	p.K1139fs		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1139						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTACCCAGGAAAAGGTTACC	0.428																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3415-3417)aafs		DIP2 disco-interacting protein 2 homolog B (Drosophila)							209	208	208					12																	51121500		2203	4300	6503	SO:0001589	frameshift_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51121500delA	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3415delA	12.37:g.51121500delA	ENSP00000301180:p.Lys1139fs						p.K1139fs	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			29	3449	+			1139					Q6B011|Q8N1L5|Q8NB38	Frame_Shift_Del	DEL	ENST00000301180.5	37	c.3415delA	CCDS31799.1																																																																																				0.428	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		7	1335						7	1335	---	---	---	---	-	51121500	A	-	51121500	7	5	26	1	0	1	0	1	0	0	0	0	4544	247	9	0	3529	0	DIP2B	12	51121500	Frame_Shift_Del	DEL	A	TCGA-3A-A9IB-01A-21D-A397-08	25723216	51121500	82730395	85	3229											
KRT85	3891	broad.mit.edu	37	chr12	52760836	52760836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctcctcctgcttcacGcactgtgcgttggggtcgat	10	14	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(352-354)tgC>tgT		keratin 85							164	153	157					12																	52760836		2203	4296	6499	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760836G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.354C>T	12.37:g.52760836G>A							p.C118C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	429	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		118			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.354C>T	CCDS8824.1																																																																																				0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		129	606	0	0	0	1	0	129	606					A	52760836	G	A	52760836	2	1	26	1	0	0	0	0	0	0	0	1	8529	1079	38	1		1	KRT85	12	52760836	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1639336	52760836	81091059	86	3230											
ERBB3	2065	broad.mit.edu	37	chr12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggggcctggacatcAggccccccatgtccattatg	10	13	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1301					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGACATCAGGCCCCCCAT	0.537																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3901-3903)cAg>cGg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							107	117	113					12																	56495712		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495712A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3902A>G	12.37:g.56495712A>G	ENSP00000267101:p.Gln1301Arg					ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|RP11-603J24.9_ENST00000548861.1_Intron	p.Q1301R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4342	+			1301					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3902A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.897	0.733645	0.15574	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78003	-1.0;-0.92;-0.99;-1.14;-0.88	5.39	4.26	0.50523	.	0.563354	0.17890	N	0.158548	T	0.56093	0.1962	N	0.14661	0.345	0.23855	N	0.996651	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.07482	T	0.82	.	8.109	0.30903	0.8379:0.0:0.1621:0.0	.	1242;421;1301	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	R	1301;658;1242;424;542;421	ENSP00000267101:Q1301R;ENSP00000399178:Q658R;ENSP00000408340:Q1242R;ENSP00000449129:Q542R;ENSP00000448729:Q421R	ENSP00000267101:Q1301R	Q	+	2	0	ERBB3	54781979	0.059000	0.20769	0.807000	0.32361	0.337000	0.28794	0.589000	0.23939	1.069000	0.40788	0.533000	0.62120	CAG		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	717	0	0	0	1	0	6	717					G	56495712	A	G	56495712	3	3	26	1	0	0	0	0	1	0	0	0	5226	188	7	4	4143	4	ERBB3	12	56495712	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	3734876	56495712	77356183	87	3231											
LRP1	4035	broad.mit.edu	37	chr12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgcaagaacgacaagtGcatccccttctggtggaagt	11	9	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3346	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10036-10038)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46	44	45					12																	57594247		2203	4299	6502	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57594247G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10037G>A	12.37:g.57594247G>A	ENSP00000243077:p.Cys3346Tyr						p.C3346Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	63	10503	+			3346			LDL-receptor class A 21.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10037G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652311	0.67472	.	.	ENSG00000123384	ENST00000243077	D	0.99919	-8.0	4.56	4.56	0.56223	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96047	0.9028	10	0.59425	D	0.04	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	3346	Q07954	LRP1_HUMAN	Y	3346	ENSP00000243077:C3346Y	ENSP00000243077:C3346Y	C	+	2	0	LRP1	55880514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.386000	0.81285	0.555000	0.69702	TGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		72	215	0	0	0	1	0	72	215					A	57594247	G	A	57594247	3	1	26	1	0	0	0	0	1	0	0	0	8989	1319	46	2	10287	2	LRP1	12	57594247	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1098535	57594247	76257648	88	3232											
HVCN1	84329	broad.mit.edu	37	chr12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-													actggtgtgggtggtggctgCtcctcctcctcctcctcctc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(163-165)del		hydrogen voltage-gated channel 1																																				SO:0001651	inframe_deletion	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099110_111099112delCTC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del					HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del	p.E55del			Q96D96	HVCN1_HUMAN			3	916_918	-			55			Poly-Glu.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	c.163_165delGAG	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	267						7	267	---	---	---	---	-	111099112	CTC	-	111099110	7	5	26	1	0	1	0	1	0	0	0	0	7492	796	28	0	676	0	HVCN1	12	111099110	In_Frame_Del	DEL	CTC	TCGA-3A-A9IB-01A-21D-A397-08	53504863	111099110	22752785	89	3233											
DNAH10	196385	broad.mit.edu	37	chr12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtttcggaagatcttgCgggctgaagggcgcgtggag	19	6	1	2	rs372793754		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453																																						ENST00000409039.3																			2	Substitution - Missense(2)	p.R224W(1)|p.R1632W(1)	kidney(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4894-4896)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,4018		0,0,2009	189	192	191		4894	4.3	0.6	12		191	1,8331		0,1,4165	no	missense	DNAH10	NM_207437.3	101	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1632/4472	124325980	1,12349	2009	4166	6175	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325980C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4894C>T	12.37:g.124325980C>T	ENSP00000386770:p.Arg1632Trp						p.R1632W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4919	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1632			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4894C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628344	0.28978	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.23	4.33	0.51752	Dynein heavy chain, domain-2 (1);	0.404099	0.20619	U	0.088806	T	0.74168	0.3681	M	0.67397	2.05	0.09310	N	0.999997	D	0.76494	0.999	D	0.66979	0.948	T	0.65479	-0.6158	10	0.54805	T	0.06	.	11.2171	0.48833	0.1186:0.5932:0.2882:0.0	.	1632	Q8IVF4	DYH10_HUMAN	W	1632	ENSP00000386770:R1632W	ENSP00000386770:R1632W	R	+	1	2	DNAH10	122891933	0.255000	0.24002	0.606000	0.28943	0.075000	0.17131	1.122000	0.31295	1.201000	0.43203	0.561000	0.74099	CGG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	596	0	0	0	1	0	5	596					T	124325980	C	T	124325980	3	4	26	1	0	0	0	0	1	0	0	0	4614	759	27	1	5008	1	DNAH10	12	124325980	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	13226870	124325980	9525915	90	3234											
ATP12A	479	broad.mit.edu	37	chr13	25262564	25262564	+	Frame_Shift_Del	DEL	G	G	-													aagttcctcaagcagatggtGggggggttctctatcctcct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:25262564delG	ENST00000381946.3	+	4	503	c.336delG	c.(334-336)gtgfs	p.V112fs	ATP12A_ENST00000218548.6_Frame_Shift_Del_p.V112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AGCAGATGGTGGGGGGGTTCT	0.587																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gtfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						229	237	234					13																	25262564		2203	4300	6503	SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262564delG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.336delG	13.37:g.25262564delG	ENSP00000371372:p.Val112fs					ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V112fs	p.V112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Del	DEL	ENST00000381946.3	37	c.336delG	CCDS31948.1																																																																																				0.587	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		7	1612						7	1612	---	---	---	---	-	25262564	G	-	25262564	7	5	26	1	0	1	0	1	0	0	0	0	1123	1335	47	0	350	0	ATP12A	13	25262564	Frame_Shift_Del	DEL	G	TCGA-3A-A9IB-01A-21D-A397-08		25262564	89907314	91	3235											
MYO16	23026	broad.mit.edu	37	chr13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccagggaagcggccaacGaaggtcagccctggggaggg	19	11	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000357550.2	+	30	4023	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCGGCCAACGAAGGTCAGCC	0.662																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3982-3984)Gaa>Aaa		myosin XVI							16	19	18					13																	109779895		2198	4295	6493	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779895G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3982G>A	13.37:g.109779895G>A	ENSP00000350160:p.Glu1328Lys					MYO16_ENST00000357550.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	p.E1328K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4108	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1328						Missense_Mutation	SNP	ENST00000357550.2	37	c.3982G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151349	0.57151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42900	0.96;0.96;0.96	5.09	5.09	0.68999	.	0.000000	0.38605	U	0.001637	T	0.50394	0.1613	M	0.67953	2.075	0.48571	D	0.999678	D;D	0.59767	0.986;0.985	P;B	0.47705	0.555;0.41	T	0.53330	-0.8454	9	.	.	.	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	840;1328	F8W883;Q9Y6X6	.;MYO16_HUMAN	K	1328;1328;840	ENSP00000349145:E1328K;ENSP00000350160:E1328K;ENSP00000401633:E840K	.	E	+	1	0	MYO16	108577896	1.000000	0.71417	0.922000	0.36590	0.090000	0.18270	5.411000	0.66386	2.367000	0.80283	0.563000	0.77884	GAA		0.662	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		18	114	0	0	0	1	0	18	114					A	109779895	G	A	109779895	3	1	26	1	0	0	0	0	1	0	0	0	10105	1059	37	1	4100	1	MYO16	13	109779895	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	84517331	109779895	5389983	92	3236											
FBN1	2200	broad.mit.edu	37	chr15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacacaggtaaccgccctCggtattggaacagccatagc	10	14	0	0	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2667	EGF-like 47; 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)			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)		TAACCGCCCTCGGTATTGGAA	0.542																																						ENST00000316623.5																			0				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						c.(7999-8001)Gag>Aag		fibrillin 1		C	LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	85	75	79		7999	5.8	1	15	dbSNP_134	79	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	56	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	benign	2667/2872	48707785	2,12986	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.chr15:48707785C>T	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.7999G>A	15.37:g.48707785C>T	ENSP00000325527:p.Glu2667Lys					FBN1_ENST00000561429.1_5'UTR	p.E2667K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8454	-		all_lung(180;0.00279)	2667			EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7999G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651521	0.47362	2.27E-4	1.16E-4	ENSG00000166147	ENST00000316623	D	0.87412	-2.25	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.155020	0.64402	D	0.000019	T	0.74329	0.3702	N	0.16266	0.395	0.80722	D	1	P	0.44090	0.826	B	0.34452	0.183	T	0.76063	-0.3096	10	0.06099	T	0.92	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2667	P35555	FBN1_HUMAN	K	2667	ENSP00000325527:E2667K	ENSP00000325527:E2667K	E	-	1	0	FBN1	46495077	1.000000	0.71417	0.988000	0.46212	0.657000	0.38888	4.893000	0.63199	2.745000	0.94114	0.655000	0.94253	GAG		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			81	241	0	0	0	1	0	81	241					T	48707785	C	T	48707785	3	4	26	1	0	0	0	0	1	0	0	0	5727	893	31	1	628	1	FBN1	15	48707785	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		48707785	53823607	93	3237											
RHOT2	89941	broad.mit.edu	37	chr16	721954	721954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctcccacgcacagtccGcacagaggccggccggttgc	13	17	0	1	rs543941700		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	350					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGCACAGTCCGCACAGAGGCC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10655	0.0		0.0	False		,,,				2504	0.001					ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1048-1050)cGc>cAc		ras homolog family member T2							48	60	56					16																	721954		2201	4297	6498	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721954G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1049G>A	16.37:g.721954G>A	ENSP00000321971:p.Arg350His						p.R350H	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1163	+		Hepatocellular(780;0.0218)	350					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1049G>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319598	0.41096	.	.	ENSG00000140983	ENST00000315082	T	0.10099	2.91	5.31	2.09	0.27110	EF hand associated, type-1 (1);	0.488085	0.25897	N	0.027587	T	0.10380	0.0254	N	0.22421	0.69	0.20403	N	0.999906	P	0.44006	0.824	P	0.44477	0.451	T	0.10497	-1.0627	10	0.44086	T	0.13	-4.7154	15.1832	0.72975	0.0:0.4165:0.5835:0.0	.	350	Q8IXI1	MIRO2_HUMAN	H	350	ENSP00000321971:R350H	ENSP00000321971:R350H	R	+	2	0	RHOT2	661955	0.971000	0.33674	0.002000	0.10522	0.006000	0.05464	1.740000	0.38228	0.186000	0.20125	0.456000	0.33151	CGC		0.692	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		6	481	0	0	0	1	0	6	481					A	721954	G	A	721954	3	1	26	1	0	0	0	0	1	0	0	0	13394	1087	38	1	1099	1	RHOT2	16	721954	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		721954	89632799	94	3238											
FAM86A	196483	broad.mit.edu	37	chr16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttcccatctgatccCggcccggcctggaaacagag	9	16	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(901-903)Ggg>Agg		family with sequence similarity 86, member A							115	106	109					16																	5135725		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135725C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.901G>A	16.37:g.5135725C>T	ENSP00000398502:p.Gly301Arg					FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R	p.G301R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	969	-			301					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.901G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968842	0.34754	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.32023	1.47;1.47	4.36	2.41	0.29592	.	1.680010	0.03534	U	0.222902	T	0.27278	0.0669	L	0.36672	1.1	0.30917	N	0.728407	P;B	0.35700	0.516;0.157	B;B	0.34138	0.176;0.067	T	0.29212	-1.0019	10	0.49607	T	0.09	.	7.6181	0.28169	0.0:0.801:0.0:0.199	.	267;301	Q96G04-2;Q96G04	.;FA86A_HUMAN	R	267;301	ENSP00000389710:G267R;ENSP00000398502:G301R	ENSP00000398502:G301R	G	-	1	0	FAM86A	5075726	0.884000	0.30299	0.088000	0.20740	0.153000	0.21895	1.539000	0.36104	0.595000	0.29777	0.484000	0.47621	GGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		6	417	0	0	0	1	0	6	417					T	5135725	C	T	5135725	3	4	26	1	0	0	0	0	1	0	0	0	5668	652	23	1	95	1	FAM86A	16	5135725	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	4413771	5135725	85219028	95	3239											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	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.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	251						9	251	---	---	---	---	-	29994533	GAG	-	29994531	7	5	26	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-3A-A9IB-01A-21D-A397-08	24858806	29994531	60360222	96	3240											
NKD1	85407	broad.mit.edu	37	chr16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatccagcaagatgctgCgggtaaagctcaccgtggcc	11	13	1	1	rs377648064		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGATGCTGCGGGTAAAGCT	0.592																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(544-546)Cgg>Tgg		naked cuticle homolog 1 (Drosophila)		C	TRP/ARG	0,4396		0,0,2198	80	70	74		544	3.9	1	16		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKD1	NM_033119.4	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/471	50664178	1,12995	2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664178C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.544C>T	16.37:g.50664178C>T	ENSP00000268459:p.Arg182Trp						p.R182W	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	768	+		all_cancers(37;0.229)	182			Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.544C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707405	0.48412	0.0	1.16E-4	ENSG00000140807	ENST00000268459	T	0.72505	-0.66	4.88	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86778	0.1977	10	0.87932	D	0	-22.9129	14.0418	0.64681	0.2725:0.7275:0.0:0.0	.	182	Q969G9	NKD1_HUMAN	W	182	ENSP00000268459:R182W	ENSP00000268459:R182W	R	+	1	2	NKD1	49221679	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.134000	0.50538	1.151000	0.42436	0.655000	0.94253	CGG		0.592	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			29	332	0	0	0	1	0	29	332					T	50664178	C	T	50664178	3	4	26	1	0	0	0	0	1	0	0	0	10483	759	27	1	570	1	NKD1	16	50664178	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	20669647	50664178	39690575	97	3241											
PMFBP1	83449	broad.mit.edu	37	chr16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctcatgctctttgctcttCttcaactgctcccgtttgtc	5	14	5	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000237353.10	-	13	2133	c.1872G>C	c.(1870-1872)aaG>aaC	p.K624N	PMFBP1_ENST00000537465.1_Missense_Mutation_p.K629N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	629						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTTGCTCTTCTTCAACTGCT	0.468																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1885-1887)aaG>aaC		polyamine modulated factor 1 binding protein 1							287	291	290					16																	72163043		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72163043C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1872G>C	16.37:g.72163043C>G	ENSP00000237353:p.Lys624Asn					PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K624N	p.K629N			Q8TBY8	PMFBP_HUMAN			13	2045	-		Ovarian(137;0.179)	629					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1887G>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246930	0.10130	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13538	2.58;2.59;2.58	4.31	2.09	0.27110	.	0.129090	0.35646	N	0.003070	T	0.09291	0.0229	L	0.29908	0.895	0.23449	N	0.997656	B;P;B	0.39250	0.447;0.665;0.447	B;B;B	0.41088	0.147;0.347;0.147	T	0.19844	-1.0293	10	0.26408	T	0.33	-18.0873	5.1417	0.14963	0.0:0.2541:0.0:0.7459	.	629;624;629	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	629;624;479	ENSP00000443817:K629N;ENSP00000237353:K624N;ENSP00000347854:K479N	ENSP00000237353:K624N	K	-	3	2	PMFBP1	70720544	0.996000	0.38824	0.994000	0.49952	0.049000	0.14656	0.330000	0.19715	0.458000	0.26988	-0.302000	0.09304	AAG		0.468	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		320	951	0	0	0	1	0	320	951					G	72163043	C	G	72163043	3	3	26	1	0	0	0	0	1	0	0	0	12176	912	32	5	1247	5	PMFBP1	16	72163043	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	21498865	72163043	18191710	98	3242											
FANCA	2175	broad.mit.edu	37	chr16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggcagtaggtggagtacaGagatggggggattttatctg	17	4	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	617					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGGAGTACAGAGATGGGGGG	0.443			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(1849-1851)Ctg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							52	46	48					16																	89842201		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89842201G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1849C>G	16.37:g.89842201G>C	ENSP00000373952:p.Leu617Val					FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	p.L617V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	21	1879	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	617					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1849C>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255899	0.22965	.	.	ENSG00000187741	ENST00000389301	D	0.85411	-1.98	5.03	-0.755	0.11061	.	0.494987	0.16475	N	0.212816	T	0.77246	0.4102	M	0.71581	2.175	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.20184	0.028;0.016	T	0.67898	-0.5551	10	0.66056	D	0.02	-1.1651	1.6061	0.02684	0.3053:0.1378:0.4164:0.1405	.	617;617	B4DRI7;O15360	.;FANCA_HUMAN	V	617	ENSP00000373952:L617V	ENSP00000373952:L617V	L	-	1	2	FANCA	88369702	0.000000	0.05858	0.008000	0.14137	0.759000	0.43091	-0.464000	0.06688	-0.023000	0.13963	0.650000	0.86243	CTG		0.443	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			13	109	0	0	0	1	0	13	109					C	89842201	G	C	89842201	3	2	26	1	0	0	0	0	1	0	0	0	5687	933	33	5	2610	5	FANCA	16	89842201	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	17679158	89842201	512552	99	3243											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		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"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	93	0	0	0	1	0	41	93					C	7578190	T	C	7578190	3	2	26	1	0	0	0	0	1	0	0	0	16434	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08		7578190	73617020	100	3244											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	408						8	408	---	---	---	---	-	8415822	TTC	-	8415820	7	5	26	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-3A-A9IB-01A-21D-A397-08	837630	8415820	72779390	101	3245											
TAOK1	57551	broad.mit.edu	37	chr17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agattgaagcttttgactctGaaagcatgagactaggtttt	10	5	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	881					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTTGACTCTGAAAGCATGAG	0.473																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2641-2643)Gaa>Caa		TAO kinase 1							158	154	156					17																	27869675		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27869675G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2641G>C	17.37:g.27869675G>C	ENSP00000261716:p.Glu881Gln					TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	p.E881Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		20	3160	+			881					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2641G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650537	0.87958	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.57752	0.38;0.38	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.86178	2.8	0.27873	N	0.939969	D;D	0.89917	0.981;1.0	D;D	0.85130	0.932;0.997	T	0.73304	-0.4025	10	0.72032	D	0.01	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	733;881	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Q	881;733	ENSP00000261716:E881Q;ENSP00000438819:E733Q	ENSP00000261716:E881Q	E	+	1	0	TAOK1	24893801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.623000	0.88846	0.561000	0.74099	GAA		0.473	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		92	499	0	0	0	1	0	92	499					C	27869675	G	C	27869675	3	2	26	1	0	0	0	0	1	0	0	0	15599	1291	45	5	2715	5	TAOK1	17	27869675	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	19453855	27869675	53325535	102	3246											
TMEM132E	124842	broad.mit.edu	37	chr17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccgcctgcatgccttcCgggatgcccgggaagtcaag	14	13	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	171						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCATGCCTTCCGGGATGCCCG	0.711																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(511-513)Cgg>Tgg		transmembrane protein 132E							11	13	13					17																	32953589		2171	4243	6414	SO:0001583	missense	124842					integral to membrane		g.chr17:32953589C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.511C>T	17.37:g.32953589C>T	ENSP00000316532:p.Arg171Trp						p.R171W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	839	+			171					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.511C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713777	0.68730	.	.	ENSG00000181291	ENST00000321639	T	0.13420	2.59	5.17	1.84	0.25277	.	0.120858	0.56097	D	0.000034	T	0.24812	0.0602	L	0.48877	1.53	0.31168	N	0.703569	D	0.89917	1.0	D	0.67548	0.952	T	0.07790	-1.0754	10	0.56958	D	0.05	-14.7201	9.9255	0.41489	0.2791:0.5861:0.1348:0.0	.	171	Q6IEE7	T132E_HUMAN	W	171	ENSP00000316532:R171W	ENSP00000316532:R171W	R	+	1	2	TMEM132E	29977702	0.999000	0.42202	0.993000	0.49108	0.971000	0.66376	0.741000	0.26202	0.545000	0.28902	-0.294000	0.09567	CGG		0.711	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		17	75	0	0	0	1	0	17	75					T	32953589	C	T	32953589	3	4	26	1	0	0	0	0	1	0	0	0	16100	643	23	1	517	1	TMEM132E	17	32953589	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	5083914	32953589	48241621	103	3247											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	368	0	0	0	1	0	5	368					A	38240101	G	A	38240101	3	1	26	1	0	0	0	0	1	0	0	0	15925	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	5286512	38240101	42955109	104	3248											
CRHR1	1394	broad.mit.edu	37	chr17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcaggttggtgacagCcgcctacaactacttccatg	11	12	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000398285.3	+	8	665	c.665C>T	c.(664-666)gCc>gTc	p.A222V	CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000314537.5_Missense_Mutation_p.A193V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					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)			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)		TTGGTGACAGCCGCCTACAAC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(577-579)gCc>gTc		corticotropin releasing hormone receptor 1							58	62	61					17																	43907805		2195	4300	6495	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907805C>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.665C>T	17.37:g.43907805C>T	ENSP00000381333:p.Ala222Val					CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000398285.3_Missense_Mutation_p.A222V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	p.A193V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	803	+	Colorectal(2;0.0416)		222					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.578C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750172	0.49257	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.39406	1.19;1.08;1.19;1.19;1.19	5.27	5.27	0.74061	GPCR, family 2-like (1);	0.099034	0.64402	D	0.000001	T	0.25938	0.0632	N	0.04297	-0.235	0.50467	D	0.999875	B;B;B;P;B;B	0.42871	0.268;0.201;0.122;0.792;0.268;0.268	B;B;B;P;B;B	0.46419	0.26;0.088;0.082;0.516;0.135;0.192	T	0.06935	-1.0799	10	0.23891	T	0.37	.	9.92	0.41459	0.0:0.9073:0.0:0.0927	.	193;222;92;92;153;193	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	18;92;222;193;193;153	ENSP00000293493:A18V;ENSP00000340522:A92V;ENSP00000381333:A222V;ENSP00000326060:A193V;ENSP00000344068:A153V	ENSP00000293493:A18V	A	+	2	0	CRHR1	41263586	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	6.091000	0.71406	2.462000	0.83206	0.561000	0.74099	GCC		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			5	363	0	0	0	1	0	5	363					T	43907805	C	T	43907805	3	4	26	1	0	0	0	0	1	0	0	0	3880	739	26	2	695	2	CRHR1	17	43907805	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	5667704	43907805	37287405	105	3249											
COIL	8161	broad.mit.edu	37	chr17	55019406	55019406	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacacctaccttgctctccTgtgtcacagcgtactccact	6	17	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:55019406T>A	ENST00000240316.4	-	6	1671	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	546	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTGCTCTCCTGTGTCACAGC	0.468																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1636-1638)cAg>cTg		coilin							164	140	148					17																	55019406		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55019406T>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1637A>T	17.37:g.55019406T>A	ENSP00000240316:p.Gln546Leu						p.Q546L	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			6	1671	-	Breast(9;6.15e-08)		546					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1637A>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317803	0.81469	.	.	ENSG00000121058	ENST00000240316	T	0.36699	1.24	4.89	4.89	0.63831	.	0.065204	0.64402	D	0.000004	T	0.51176	0.1659	M	0.70275	2.135	0.49915	D	0.999837	D	0.54047	0.964	P	0.54346	0.749	T	0.57183	-0.7855	10	0.87932	D	0	-15.4194	13.0734	0.59074	0.0:0.0:0.0:1.0	.	546	P38432	COIL_HUMAN	L	546	ENSP00000240316:Q546L	ENSP00000240316:Q546L	Q	-	2	0	COIL	52374405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.499000	0.45372	1.962000	0.57031	0.455000	0.32223	CAG		0.468	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	312	0	0	0	1	0	4	312					A	55019406	T	A	55019406	3	1	26	1	0	0	0	0	1	0	0	0	3674	1580	55	5	101	5	COIL	17	55019406	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	11111601	55019406	26175804	106	3250											
CASKIN2	57513	broad.mit.edu	37	chr17	73498943	73498943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaaagcttagggggccGctctgtgccctctgggaggt	15	10	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:73498943G>A	ENST00000321617.3	-	18	2798	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	738	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTAGGGGGCCGCTCTGTGCCC	0.657																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2212-2214)Cgg>Tgg		CASK interacting protein 2							19	21	21					17																	73498943		2124	4205	6329	SO:0001583	missense	57513					cytoplasm		g.chr17:73498943G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2212C>T	17.37:g.73498943G>A	ENSP00000325355:p.Arg738Trp					CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	p.R738W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2798	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		738			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2212C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079834	0.55753	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71103	-0.54;-0.36	4.81	1.54	0.23209	.	0.386982	0.19123	N	0.122125	T	0.55146	0.1902	N	0.22421	0.69	0.29131	N	0.879632	B	0.25486	0.127	B	0.12837	0.008	T	0.52465	-0.8572	10	0.66056	D	0.02	.	13.4363	0.61086	0.0:0.0:0.5886:0.4113	.	738	Q8WXE0	CSKI2_HUMAN	W	738;656	ENSP00000325355:R738W;ENSP00000406963:R656W	ENSP00000325355:R738W	R	-	1	2	CASKIN2	71010538	1.000000	0.71417	0.896000	0.35187	0.625000	0.37756	2.813000	0.48002	0.193000	0.20303	0.561000	0.74099	CGG		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		5	532	0	0	0	1	0	5	532					A	73498943	G	A	73498943	3	1	26	1	0	0	0	0	1	0	0	0	2674	1086	38	1	1408	1	CASKIN2	17	73498943	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	18479537	73498943	7696267	107	3251											
FAM100B	283991	broad.mit.edu	37	chr17	74261669	74261669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcgcggccgaccaggCgaagcagttgctgcaggcgg	19	12	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:74261669C>A	ENST00000327490.6	+	1	387	c.83C>A	c.(82-84)gCg>gAg	p.A28E	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	28																	GCCGACCAGGCGAAGCAGTTG	0.771																																						ENST00000327490.6																			0											c.(82-84)gCg>gAg		UBA-like domain containing 2							10	12	11					17																	74261669		2109	4182	6291	SO:0001583	missense	283991							g.chr17:74261669C>A		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.83C>A	17.37:g.74261669C>A	ENSP00000331298:p.Ala28Glu						p.A28E	NM_182565.3	NP_872371.1					1	387	+									Missense_Mutation	SNP	ENST00000327490.6	37	c.83C>A	CCDS11742.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576128	0.86645	.	.	ENSG00000185262	ENST00000327490	.	.	.	2.59	2.59	0.31030	UBA-like (1);	0.000000	0.56097	U	0.000040	T	0.75796	0.3898	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78899	-0.2022	9	0.87932	D	0	-8.3367	10.3969	0.44207	0.0:1.0:0.0:0.0	.	28	Q8IYN6	F100B_HUMAN	E	28	.	ENSP00000331298:A28E	A	+	2	0	FAM100B	71773264	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.421000	0.59848	1.441000	0.47550	0.551000	0.68910	GCG		0.771	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		4	132	1	0	1	1	1	4	132					A	74261669	C	A	74261669	3	1	26	1	0	0	0	0	1	0	0	0	5400	768	27	3	85	3	FAM100B	17	74261669	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	762726	74261669	6933541	108	3252											
C18orf8	29919	broad.mit.edu	37	chr18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-													tgtatgttctcttcttgaggCatcattctcggacctccaac							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000269221.3	+	8	795_797	c.685_687delCAT	c.(685-687)catdel	p.H230del	C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	230						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTCTTGAGGCATCATTCTCGGA	0.424																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(685-687)del		chromosome 18 open reading frame 8																																				SO:0001651	inframe_deletion	29919							g.chr18:21098885_21098887delCAT	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.685_687delCAT	18.37:g.21098888_21098890delCAT	ENSP00000269221:p.His230del					C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	p.H230del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			8	795_797	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		230					Q9BU17|Q9Y5M0	In_Frame_Del	DEL	ENST00000269221.3	37	c.685_687delCAT	CCDS32803.1																																																																																				0.424	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		89	226						89	226	---	---	---	---	-	21098887	CAT	-	21098885	7	5	26	1	0	1	0	1	0	0	0	0	1914	710	25	0	715	0	C18orf8	18	21098885	In_Frame_Del	DEL	CAT	TCGA-3A-A9IB-01A-21D-A397-08		21098885	56978363	109	3253											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				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						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	276	0	0	0	1	0	4	276					G	9090831	A	G	9090831	2	3	26	1	0	0	0	0	0	0	0	1	10014	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08		9090831	50038152	110	3254											
ZNF426	79088	broad.mit.edu	37	chr19	9639888	9639888	+	Frame_Shift_Del	DEL	T	T	-													attccttacatttgtagggcTtttttgcattgagggtttct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9639888delT	ENST00000535489.1	-	6	1169	c.833delA	c.(832-834)aagfs	p.K278fs	ZNF426_ENST00000593003.1_Frame_Shift_Del_p.K240fs|ZNF426_ENST00000253115.2_Frame_Shift_Del_p.K278fs			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGTAGGGCTTTTTTGCATT	0.418																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(718-720)agfs		zinc finger protein 426							142	139	140					19																	9639888		2203	4300	6503	SO:0001589	frameshift_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639888delT	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.833delA	19.37:g.9639888delT	ENSP00000439017:p.Lys278fs					ZNF426_ENST00000535489.1_Frame_Shift_Del_p.K278fs|ZNF426_ENST00000253115.2_Frame_Shift_Del_p.K278fs	p.K240fs			Q9BUY5	ZN426_HUMAN			6	1196	-			278					B3KTL2	Frame_Shift_Del	DEL	ENST00000535489.1	37	c.719delA	CCDS12215.1																																																																																				0.418	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		7	614						7	614	---	---	---	---	-	9639888	T	-	9639888	7	5	26	1	0	1	0	1	0	0	0	0	17953	1609	56	0	835	0	ZNF426	19	9639888	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	549057	9639888	49489095	111	3255											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	218						8	218	---	---	---	---	-	11038364	GCT	-	11038362	7	5	26	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-3A-A9IB-01A-21D-A397-08	1398474	11038362	48090621	112	3256											
TMEM145	284339	broad.mit.edu	37	chr19	42819577	42819577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttataaaatgttcatggccGcagcaggagtagagggtgag	14	6	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:42819577G>A	ENST00000301204.3	+	8	672	c.631G>A	c.(631-633)Gca>Aca	p.A211T	TMEM145_ENST00000598766.1_Missense_Mutation_p.A235T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	211					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.A211T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTTCATGGCCGCAGCAggagt	0.532																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.A211T(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(703-705)Gca>Aca		transmembrane protein 145							110	104	106					19																	42819577		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819577G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.631G>A	19.37:g.42819577G>A	ENSP00000301204:p.Ala211Thr					TMEM145_ENST00000301204.3_Missense_Mutation_p.A211T	p.A235T			Q8NBT3	TM145_HUMAN			8	703	+		Prostate(69;0.00682)	211						Missense_Mutation	SNP	ENST00000301204.3	37	c.703G>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402438	0.83230	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	4.1	4.1	0.47936	Rhodopsin-like GPCR transmembrane domain (1);	0.069434	0.56097	D	0.000036	T	0.45597	0.1350	M	0.61703	1.905	0.58432	D	0.999998	D	0.55385	0.971	P	0.47744	0.556	T	0.43686	-0.9376	10	0.37606	T	0.19	-1.784	12.1868	0.54243	0.0:0.0:1.0:0.0	.	211	Q8NBT3	TM145_HUMAN	T	211	ENSP00000301204:A211T	ENSP00000301204:A211T	A	+	1	0	TMEM145	47511417	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.076000	0.76806	2.011000	0.59026	0.455000	0.32223	GCA		0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		5	242	0	0	0	1	0	5	242					A	42819577	G	A	42819577	3	1	26	1	0	0	0	0	1	0	0	0	16111	1087	38	1	661	1	TMEM145	19	42819577	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	31781215	42819577	16309406	113	3257											
ZNF175	7728	broad.mit.edu	37	chr19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctttacccagaagtcaAcactcagcttgcaccagaga	7	13	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	433					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCAGAAGTCAACACTCAGCTT	0.473																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)Aca>Gca		zinc finger protein 175							69	66	67					19																	52090881		2203	4299	6502	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090881A>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1297A>G	19.37:g.52090881A>G	ENSP00000262259:p.Thr433Ala					ZNF175_ENST00000436511.2_Intron	p.T433A	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1655	+		all_neural(266;0.0299)	433					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1297A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617711	0.14129	.	.	ENSG00000105497	ENST00000262259	T	0.35421	1.31	2.39	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	N	0.03238	-0.38	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	9	0.08381	T	0.77	.	3.2726	0.06887	0.3719:0.0:0.4173:0.2107	.	433	Q9Y473	ZN175_HUMAN	A	433	ENSP00000262259:T433A	ENSP00000262259:T433A	T	+	1	0	ZNF175	56782693	0.000000	0.05858	0.677000	0.29947	0.993000	0.82548	-1.388000	0.02533	-0.348000	0.08286	-0.290000	0.09829	ACA		0.473	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		44	175	0	0	0	1	0	44	175					G	52090881	A	G	52090881	3	3	26	1	0	0	0	0	1	0	0	0	17798	43	2	4	1311	4	ZNF175	19	52090881	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	9271304	52090881	7038102	114	3258											
ZNF528	84436	broad.mit.edu	37	chr19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tactagagagagaccttatgGatgcagtcagtgtggcaaga	13	6	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGACCTTATGGATGCAGTCAG	0.403																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1228-1230)gGa>gCa		zinc finger protein 528							75	76	76					19																	52919334		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919334G>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1229G>C	19.37:g.52919334G>C	ENSP00000353652:p.Gly410Ala					ZNF528_ENST00000391788.2_3'UTR	p.G410A	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1655	+			410					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1229G>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696068	0.15106	.	.	ENSG00000167555	ENST00000360465	T	0.35048	1.33	2.08	0.998	0.19857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.00637	-1.305	0.09310	N	1	B	0.30709	0.291	B	0.29663	0.105	T	0.17806	-1.0357	9	0.44086	T	0.13	.	3.0495	0.06165	0.5844:0.2488:0.1668:0.0	.	410	Q3MIS6	ZN528_HUMAN	A	410	ENSP00000353652:G410A	ENSP00000353652:G410A	G	+	2	0	ZNF528	57611146	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.943000	0.03917	0.074000	0.16767	-0.302000	0.09304	GGA		0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		57	286	0	0	0	1	0	57	286					C	52919334	G	C	52919334	3	2	26	1	0	0	0	0	1	0	0	0	18022	1174	41	5	1243	5	ZNF528	19	52919334	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	828453	52919334	6209649	115	3259											
ZNF347	84671	broad.mit.edu	37	chr19	53644380	53644380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcattacatttgtaaggTttttctccagtatggatgac	7	8	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:53644380T>C	ENST00000334197.7	-	5	1769	c.1701A>G	c.(1699-1701)aaA>aaG	p.K567K	ZNF347_ENST00000452676.2_Silent_p.K568K|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGTTTTTCTCCAG	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1702-1704)aaA>aaG		zinc finger protein 347							156	149	152					19																	53644380		2203	4298	6501	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644380T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1701A>G	19.37:g.53644380T>C						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000334197.7_Silent_p.K567K	p.K568K	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2130	-			567					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1704A>G	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	844	0	0	0	1	0	5	844					C	53644380	T	C	53644380	2	2	26	1	0	0	0	0	0	0	0	1	17914	1722	60	4		4	ZNF347	19	53644380	Silent	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	725046	53644380	5484603	116	3260											
SLC32A1	140679	broad.mit.edu	37	chr20	37356232	37356232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgaggagaatgaagaCggcgaggtggtgcgcgtgcg	19	7	0	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	176					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(526-528)gaC>gaT		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						77	62	67					20																	37356232		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356232C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.528C>T	20.37:g.37356232C>T							p.D176D	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	791	+		Myeloproliferative disorder(115;0.00878)	176					Q8N489	Silent	SNP	ENST00000217420.1	37	c.528C>T	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		48	191	0	0	0	1	0	48	191					T	37356232	C	T	37356232	2	4	26	1	0	0	0	0	0	0	0	1	14615	535	19	1		1	SLC32A1	20	37356232	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		37356232	25669288	117	3261											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970839	45970839	+	Frame_Shift_Del	DEL	C	C	-													aggtgcagcaagccggctggCagctagactgctggcagcat							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr21:45970839delC	ENST00000391621.1	-	1	549	c.503delG	c.(502-504)tgcfs	p.C168fs	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	168	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						AGCCGGCTGGCAGCTAGACTG	0.607																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(502-504)tcfs		keratin associated protein 10-2							115	117	116					21																	45970839		2203	4300	6503	SO:0001589	frameshift_variant	386679					keratin filament		g.chr21:45970839delC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.503delG	21.37:g.45970839delC	ENSP00000375479:p.Cys168fs					TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	p.C168fs	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	549	-			168			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Frame_Shift_Del	DEL	ENST00000391621.1	37	c.503delG	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			62	397						62	397	---	---	---	---	-	45970839	C	-	45970839	7	5	26	1	0	1	0	1	0	0	0	0	8539	710	25	0	268	0	KRTAP10-2	21	45970839	Frame_Shift_Del	DEL	C	TCGA-3A-A9IB-01A-21D-A397-08		45970839	2159056	118	3262											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143	145	144					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000347330.5_Intron	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		7	677						7	677	---	---	---	---	-	30050682	T	-	30050682	7	5	26	1	0	1	0	1	0	0	0	0	10399	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08		30050682	21253884	119	3263											
ISX	91464	broad.mit.edu	37	chr22	35463185	35463185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtccttctccattgaggcGatcctaaagaggcctgccag	10	13	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	ISX_ENST00000404699.2_Silent_p.A35A|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCATTGAGGCGATCCTAAAGA	0.602																																						ENST00000308700.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(103-105)gcG>gcA		intestine-specific homeobox							39	40	40					22																	35463185		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463185G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.105G>A	22.37:g.35463185G>A						ISX_ENST00000404699.2_Silent_p.A35A|RP1-272J12.1_ENST00000448318.4_RNA	p.A35A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			1	1057	+			35					Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.105G>A	CCDS33640.1																																																																																				0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		11	69	0	0	0	1	0	11	69					A	35463185	G	A	35463185	2	1	26	1	0	0	0	0	0	0	0	1	7895	1045	37	1		1	ISX	22	35463185	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	5412503	35463185	15841381	120	3264											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.65	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	695						7	695	---	---	---	---	-	41753401	CTG	-	41753399	7	5	26	1	0	1	0	1	0	0	0	0	17626	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-3A-A9IB-01A-21D-A397-08	6290214	41753399	9551167	121	3265											
AP1S2	8905	broad.mit.edu	37	chrX	15870623	15870623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcgaagctttccctgacGactaaaaagcaacataaact	6	11	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:15870623G>A	ENST00000329235.2	-	2	268	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C|AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000380291.1_Missense_Mutation_p.R9C	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					tttccctgacgactaaaAAGC	0.338																																						ENST00000380291.1																			0				large_intestine(1)	1						c.(25-27)Cgt>Tgt		adaptor-related protein complex 1, sigma 2 subunit							91	76	81					X																	15870623		2203	4300	6503	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15870623G>A	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 5", "Pettigrew X-linked mental retardation syndrome"	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.25C>T	X.37:g.15870623G>A	ENSP00000328789:p.Arg9Cys					AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000329235.2_Missense_Mutation_p.R9C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C	p.R9C			P56377	AP1S2_HUMAN			2	141	-	Hepatocellular(33;0.183)		9					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.25C>T	CCDS14173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.381347|3.381347	0.61845|0.61845	.|.	.|.	ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.057724|.	0.64402|.	N|.	0.000003|.	D|D	0.85716|0.85716	0.5761|0.5761	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	B;P;P;P;P;P|.	0.44946|.	0.296;0.846;0.78;0.554;0.554;0.718|.	B;B;B;B;B;B|.	0.42495|.	0.127;0.203;0.261;0.389;0.389;0.337|.	D|D	0.88336|0.88336	0.2971|0.2971	9|6	0.87932|0.87932	D|D	0|0	-9.971|-9.971	19.1122|19.1122	0.93321|0.93321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	9;51;51;9;9;6|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.	.;.;.;.;AP1S2_HUMAN;.|.	C|L	9;9;51;51;6|5	.|.	ENSP00000328789:R9C|ENSP00000403498:S5L	R|S	-|-	1|2	0|0	AP1S2|AP1S2	15780544|15780544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.090000|6.090000	0.71397|0.71397	2.463000|2.463000	0.83235|0.83235	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.338	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		5	483	0	0	0	1	0	5	483					A	15870623	G	A	15870623	3	1	26	1	0	0	0	0	1	0	0	0	737	1058	37	1	464	1	AP1S2	23	15870623	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		15870623	139399937	122	3266											
BEND2	139105	broad.mit.edu	37	chrX	18195833	18195833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttggccatattttgtaCggccagcaaatggattttaa	10	6	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:18195833C>T	ENST00000380033.4	-	10	1618	c.1486G>A	c.(1486-1488)Gta>Ata	p.V496I	BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	496	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATTTTGTACGGCCAGCAAA	0.383																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1486-1488)Gta>Ata		BEN domain containing 2							244	230	235					X																	18195833		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195833C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1486G>A	X.37:g.18195833C>T	ENSP00000369372:p.Val496Ile					BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	p.V496I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			10	1618	-			496			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1486G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611613	0.28712	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.86;1.84	5.39	4.53	0.55603	BEN domain (1);	0.172175	0.36409	N	0.002601	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	P;P	0.44946	0.846;0.846	B;B	0.31869	0.137;0.137	T	0.07501	-1.0769	10	0.49607	T	0.09	-2.2856	12.4523	0.55684	0.0:0.9153:0.0:0.0847	.	405;496	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	I	496;405	ENSP00000369372:V496I;ENSP00000369369:V405I	ENSP00000369369:V405I	V	-	1	0	BEND2	18105754	0.953000	0.32496	0.006000	0.13384	0.002000	0.02628	2.330000	0.43885	1.066000	0.40716	-0.190000	0.12839	GTA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		7	905	0	0	0	1	0	7	905					T	18195833	C	T	18195833	3	4	26	1	0	0	0	0	1	0	0	0	1399	536	19	1	959	1	BEND2	23	18195833	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	2325210	18195833	137074727	123	3267											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		15	180						15	180	---	---	---	---	-	72433666	TCC	-	72433664	7	5	26	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-3A-A9IB-01A-21D-A397-08	54237831	72433664	82836896	124	3268											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	312	0	0	0	1	0	6	312					C	73811938	G	C	73811938	2	2	26	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1378274	73811938	81458622	125	3269											
RPS6KA6	27330	broad.mit.edu	37	chrX	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctttttcatgctccgtcGctgggctaagcttgaagcag	11	11	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	734					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGCTCCGTCGCTGGGCTAAG	0.458																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(2200-2202)Cga>Tga		ribosomal protein S6 kinase, 90kDa, polypeptide 6							97	78	84					X																	83319323		2203	4300	6503	SO:0001587	stop_gained	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83319323G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2200C>T	X.37:g.83319323G>A	ENSP00000262752:p.Arg734*					RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			22	2207	-			734					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	c.2200C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373426	0.95923	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2327	0.59953	0.0:0.0:0.5813:0.4187	.	.	.	.	X	734	.	ENSP00000262752:R734X	R	-	1	2	RPS6KA6	83205979	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.126000	0.50477	0.011000	0.14865	0.600000	0.82982	CGA		0.458	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		33	103	0	0	0	1	0	33	103					A	83319323	G	A	83319323	4	1	26	1	0	0	0	0	0	1	0	0	13705	1095	38	1	41	1	RPS6KA6	23	83319323	Nonsense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	9507385	83319323	71951237	126	3270											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	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:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	880						7	880	---	---	---	---	-	108619355	T	-	108619355	7	5	26	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-3A-A9IB-01A-21D-A397-08	25300032	108619355	46651205	127	3271											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	919						7	919	---	---	---	---	-	140994641	CTC	-	140994639	7	5	26	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-3A-A9IB-01A-21D-A397-08	32375284	140994639	14275921	128	3272											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	753						7	753	---	---	---	---	-	149984526	GTG	-	149984524	7	5	26	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-3A-A9IB-01A-21D-A397-08	8989885	149984524	5286036	129	3273											
PLEKHM2	23207	broad.mit.edu	37	chr1	16056392	16056392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagaagctggcactgGccaaatttgtggcccaagaa	12	10	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:16056392G>A	ENST00000375799.3	+	14	2403	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	726					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCTGGCACTGGCCAAATTTGT	0.557																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2176-2178)Gcc>Acc		pleckstrin homology domain containing, family M (with RUN domain) member 2							64	68	66					1																	16056392		2037	4193	6230	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16056392G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2176G>A	1.37:g.16056392G>A	ENSP00000364956:p.Ala726Thr					PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	p.A726T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2403	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	726					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2176G>A	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872165	0.33069	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.47	5.47	0.80525	.	0.054388	0.64402	D	0.000001	T	0.29288	0.0729	N	0.12182	0.205	0.48040	D	0.999579	B	0.26902	0.163	B	0.24394	0.053	T	0.05733	-1.0867	10	0.31617	T	0.26	-24.9066	19.3302	0.94283	0.0:0.0:1.0:0.0	.	726	Q8IWE5	PKHM2_HUMAN	T	726;706	ENSP00000364956:A726T;ENSP00000364950:A706T	ENSP00000364950:A706T	A	+	1	0	PLEKHM2	15928979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.803000	0.69129	2.572000	0.86782	0.591000	0.81541	GCC		0.557	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		5	257	0	0	0	1	0	5	257					A	16056392	G	A	16056392	3	1	27	1	0	0	0	0	1	0	0	0	12123	1203	42	2	2230	2	PLEKHM2	1	16056392	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		16056392	233194229	1	3274											
AKR7L	246181	broad.mit.edu	37	chr1	19595852	19595852	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatacttgtacttgccGgtcagcaggccccctgcggg	11	15	2	0	rs570127845		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88	89	89					1																	19595852		692	1591	2283			246181							g.chr1:19595852G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595852G>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		5	272	0	0	0	1	0	5	272					A	19595852	G	A	19595852	1	1	27	0	1	0	0	0	0	0	0	0	477	1103	39	1		1	AKR7L	1	19595852	RNA	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	3539460	19595852	229654769	2	3275											
UBXN11	91544	broad.mit.edu	37	chr1	26608892	26608892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccgggaccgggaccGggacagggaccaggactgaa	19	11	0	1	rs367932248|rs200210107		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374217.2_Silent_p.P454P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49	60	56		1101,1362,1461	0.6	0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	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.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		6	327	0	0	0	1	0	6	327					A	26608892	G	A	26608892	2	1	27	1	0	0	0	0	0	0	0	1	16967	1103	39	1		1	UBXN11	1	26608892	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	7013040	26608892	222641729	3	3276											
CYP2J2	1573	broad.mit.edu	37	chr1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctcagcttctcattGtttgggggcctgaaggtaaa	12	8	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTTCTCATTGTTTGGGGGCC	0.463																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(1423-1425)aaC>aaA		cytochrome P450, family 2, subfamily J, polypeptide 2							211	229	223					1																	60359407		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60359407G>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1425C>A	1.37:g.60359407G>T	ENSP00000360247:p.Asn475Lys					CYP2J2_ENST00000492633.1_5'UTR	p.N475K	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			9	1468	-	all_cancers(7;0.000396)		475					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.1425C>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	4.196	0.034984	0.08101	.	.	ENSG00000134716	ENST00000371204	T	0.66460	-0.21	5.77	0.0605	0.14336	.	1.795700	0.02607	N	0.101724	T	0.37320	0.0999	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0313	0.01539	0.1662:0.2556:0.2891:0.2891	.	475	P51589	CP2J2_HUMAN	K	475	ENSP00000360247:N475K	ENSP00000360247:N475K	N	-	3	2	CYP2J2	60131995	0.000000	0.05858	0.042000	0.18584	0.879000	0.50718	-0.027000	0.12371	0.309000	0.22966	0.655000	0.94253	AAC		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		24	1446	1	0	2.27111e-07	1	2.39728e-07	24	1446					T	60359407	G	T	60359407	3	4	27	1	0	0	0	0	1	0	0	0	4183	1368	48	3	87	3	CYP2J2	1	60359407	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	33750515	60359407	188891214	4	3277											
IL12RB2	3595	broad.mit.edu	37	chr1	67861733	67861733	+	Frame_Shift_Del	DEL	G	G	-													tgtggtgataagctgactctGgatcagttaaagatgaggtg							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:67861733delG	ENST00000262345.1	+	16	3190	c.2550delG	c.(2548-2550)ctgfs	p.L850fs	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.L764fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	850					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGCTGACTCTGGATCAGTTAA	0.512																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2548-2550)ctfs		interleukin 12 receptor, beta 2							281	270	274					1																	67861733		2203	4300	6503	SO:0001589	frameshift_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861733delG	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2550delG	1.37:g.67861733delG	ENSP00000262345:p.Leu850fs					IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.L764fs|IL12RB2_ENST00000371000.1_3'UTR	p.L850fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	3190	+			850					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	ENST00000262345.1	37	c.2550delG	CCDS638.1																																																																																				0.512	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		7	2062						7	2062	---	---	---	---	-	67861733	G	-	67861733	7	5	27	1	0	1	0	1	0	0	0	0	7657	1335	47	0	2608	0	IL12RB2	1	67861733	Frame_Shift_Del	DEL	G	TCGA-3A-A9IC-01A-11D-A38G-08	7502326	67861733	181388888	5	3278											
IFI44L	10964	broad.mit.edu	37	chr1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctacagagccaaatgattCcctatggttttcacttcaaa	5	10	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.5	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	82					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(244-246)tCc>tTc		interferon-induced protein 44-like							54	58	57					1																	79093845		2202	4298	6500	SO:0001583	missense	10964					cytoplasm		g.chr1:79093845C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.245C>T	1.37:g.79093845C>T	ENSP00000359787:p.Ser82Phe					IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	p.S82F	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			2	424	+			82					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.245C>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000516	0.35320	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.35973	1.28;3.08;2.49	2.89	1.97	0.26223	.	0.239768	0.34652	N	0.003789	T	0.10208	0.0250	L	0.34521	1.04	0.21184	N	0.999769	B	0.28552	0.215	B	0.28916	0.096	T	0.13098	-1.0522	10	0.54805	T	0.06	-4.5215	5.0216	0.14363	0.0:0.7217:0.0:0.2783	.	82	Q53G44	IF44L_HUMAN	F	82;82;59	ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F	ENSP00000359787:S82F	S	+	2	0	IFI44L	78866433	0.000000	0.05858	0.010000	0.14722	0.106000	0.19336	0.018000	0.13422	0.793000	0.33875	0.411000	0.27672	TCC		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		11	278	0	0	0	1	0	11	278					T	79093845	C	T	79093845	3	4	27	1	0	0	0	0	1	0	0	0	7548	855	30	2	247	2	IFI44L	1	79093845	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	11232112	79093845	170156776	6	3279											
CDC14A	8556	broad.mit.edu	37	chr1	100964516	100964516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcccggctagccagttctCtagggaacttgaatgctgca	10	12	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000361544.6_Silent_p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCCAGTTCTCTAGGGAACTT	0.458																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1453-1455)Cta>Tta		cell division cycle 14A							52	53	53					1																	100964516		2203	4300	6503	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964516C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1453C>T	1.37:g.100964516C>T						CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR	p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	1808	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	485					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.1453C>T	CCDS769.1																																																																																				0.458	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		43	173	0	0	0	1	0	43	173					T	100964516	C	T	100964516	2	4	27	1	0	0	0	0	0	0	0	1	3065	912	32	2		2	CDC14A	1	100964516	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	21870671	100964516	148286105	7	3280											
VAV3	10451	broad.mit.edu	37	chr1	108322082	108322082	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggccaatgctataggTgttcgagaaagtcgtgataa	12	7	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTATAGGTGTTCGAGAAA	0.318																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(352-354)acA>acT		vav 3 guanine nucleotide exchange factor							115	109	111					1																	108322082		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108322082T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.354A>T	1.37:g.108322082T>A						VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T	p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	3	628	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	118			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.354A>T	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808483	0.16467	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.66	-2.99	0.05497	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	1.9071	0.03279	0.1262:0.3105:0.1305:0.4328	.	.	.	.	L	113	.	.	H	-	2	0	VAV3	108123605	0.350000	0.24878	0.943000	0.38184	0.624000	0.37722	-0.789000	0.04609	-0.883000	0.03982	-0.917000	0.02746	CAC		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		31	160	0	0	0	1	0	31	160					A	108322082	T	A	108322082	2	1	27	1	0	0	0	0	0	0	0	1	17187	1683	59	5		5	VAV3	1	108322082	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	7357566	108322082	140928539	8	3281											
VTCN1	79679	broad.mit.edu	37	chr1	117699284	117699284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatctgtgagttgcacGtttttcagccgcaaagaggc	11	11	2	2	rs202083832		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGAGTTGCACGTTTTTCAGCC	0.453																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(355-357)aaC>aaT		V-set domain containing T cell activation inhibitor 1		G		0,4406		0,0,2203	93	91	91		357	-3.5	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VTCN1	NM_024626.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/283	117699284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699284G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.357C>T	1.37:g.117699284G>A						VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	p.N119N	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	435	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	119			Ig-like V-type 1.			Silent	SNP	ENST00000369458.3	37	c.357C>T	CCDS894.1																																																																																				0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		6	397	0	0	0	1	0	6	397					A	117699284	G	A	117699284	2	1	27	1	0	0	0	0	0	0	0	1	17288	1136	40	1		1	VTCN1	1	117699284	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	9377202	117699284	131551337	9	3282											
SHC1	6464	broad.mit.edu	37	chr1	154936379	154936380	+	Frame_Shift_Ins	INS	-	-	T													gctgataaggtgactgacacINStttcaaagcggtgatcctta							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:154936379_154936380insT	ENST00000368445.5	-	12	1865_1866	c.1651_1652insA	c.(1651-1653)agtfs	p.S551fs	SHC1_ENST00000448116.2_Frame_Shift_Ins_p.S552fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.S441fs|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.S352fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.S322fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.S442fs|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_5'Flank|SHC1_ENST00000490667.1_5'UTR|PYGO2_ENST00000483463.1_5'Flank|PYGO2_ENST00000368457.2_5'Flank	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	551	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGACTGACACTTTCAAAGCGG	0.51																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(1654-1656)tgtfs		SHC (Src homology 2 domain containing) transforming protein 1																																				SO:0001589	frameshift_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154936379_154936380insT	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1652dupA	1.37:g.154936382_154936382dupT	ENSP00000357430:p.Ser551fs					SHC1_ENST00000368450.1_Frame_Shift_Ins_p.C441fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.C442fs|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.C352fs|SHC1_ENST00000368445.5_Frame_Shift_Ins_p.C551fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.C322fs	p.C552fs	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		12	1874_1875	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		551			SH2.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	ENST00000368445.5	37	c.1654_1655insA	CCDS30881.1																																																																																				0.51	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		11	507						11	507	---	---	---	---	T	154936380	-	T	154936379	7	5	27	1	0	1	1	0	0	0	0	0	14320	565	20	0	103	0	SHC1	1	154936379	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	37237095	154936379	94314242	10	3283											
BLZF1	8548	broad.mit.edu	37	chr1	169349763	169349763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagagcagctttacagcGtcaaaaccgtgatgcacacg	9	12	2	2	rs562436533		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169349763G>A	ENST00000367808.3	+	5	1136	c.713G>A	c.(712-714)cGt>cAt	p.R238H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	238					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCTTTACAGCGTCAAAACCGT	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.0					ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(712-714)cGt>cAt		basic leucine zipper nuclear factor 1							132	111	118					1																	169349763		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169349763G>A	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.713G>A	1.37:g.169349763G>A	ENSP00000356782:p.Arg238His					BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H	p.R238H			Q9H2G9	GO45_HUMAN			5	1136	+	all_hematologic(923;0.208)		238					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.713G>A	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828201	0.71143	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.13307	2.6;2.6;2.6	5.52	4.59	0.56863	.	0.116880	0.53938	D	0.000046	T	0.07369	0.0186	M	0.61703	1.905	0.46981	D	0.999278	B;B	0.32160	0.358;0.358	B;B	0.23018	0.043;0.043	T	0.05937	-1.0855	9	0.51188	T	0.08	-24.7466	14.7107	0.69229	0.0707:0.0:0.9293:0.0	.	238;238	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	238	ENSP00000356782:R238H;ENSP00000327541:R238H;ENSP00000404408:R238H	ENSP00000327541:R238H	R	+	2	0	BLZF1	167616387	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.162000	0.71874	1.293000	0.44690	0.637000	0.83480	CGT		0.383	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		5	476	0	0	0	1	0	5	476					A	169349763	G	A	169349763	3	1	27	1	0	0	0	0	1	0	0	0	1455	1145	40	1	727	1	BLZF1	1	169349763	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	14413384	169349763	79900858	11	3284											
SCYL3	57147	broad.mit.edu	37	chr1	169833511	169833511	+	Splice_Site	DEL	T	T	-													actttgaaaaagcattcaccTtttttggggccaagcagata							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92	94	94					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	7	884						7	884	---	---	---	---	-	169833511	T	-	169833511	8	5	27	1	0	1	0	1	0	0	1	0	13999	1623	56	0	1298	0	SCYL3	1	169833511	Splice_Site	DEL	T	TCGA-3A-A9IC-01A-11D-A38G-08	483748	169833511	79417110	12	3285											
RASAL2	9462	broad.mit.edu	37	chr1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A													acaaggatgtggaaaaaaagINSaaaaaaaaggacaagaataa							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	527						8	527	---	---	---	---	A	178412041	-	A	178412040	7	5	27	1	0	1	1	0	0	0	0	0	13114	933	33	0	1205	0	RASAL2	1	178412040	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	8578529	178412040	70838581	13	3286											
ASPM	259266	broad.mit.edu	37	chr1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacaaataactgcttgggTacgcactgcagttagttttc	8	8	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGCTTGGGTACGCACTGCA	0.368																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7996-7998)Acc>Gcc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							62	56	58					1																	197070385		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070385T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7996A>G	1.37:g.197070385T>C	ENSP00000356379:p.Thr2666Ala					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.T2666A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	8252	-			2666			IQ 29.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7996A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297929	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71461	-0.57	4.87	2.43	0.29744	.	0.323751	0.26478	N	0.024158	T	0.67859	0.2938	L	0.38838	1.175	0.21473	N	0.999675	P;P	0.51933	0.949;0.587	D;B	0.65987	0.94;0.241	T	0.55289	-0.8164	10	0.22109	T	0.4	.	1.899	0.03264	0.1319:0.1509:0.1367:0.5805	.	652;2666	E7EQ84;Q8IZT6	.;ASPM_HUMAN	A	2666;652	ENSP00000356379:T2666A	ENSP00000356376:T652A	T	-	1	0	ASPM	195337008	0.001000	0.12720	0.197000	0.23402	0.500000	0.33767	0.732000	0.26072	0.259000	0.21709	0.455000	0.32223	ACC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		108	247	0	0	0	1	0	108	247					C	197070385	T	C	197070385	3	2	27	1	0	0	0	0	1	0	0	0	1057	1638	57	4	2481	4	ASPM	1	197070385	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	18658345	197070385	52180236	14	3287											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:207642044delC	ENST00000367058.3	+	3	807	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gtfs		complement component (3d/Epstein Barr virus) receptor 2							243	225	231					1																	207642044		2203	4300	6503	SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642044delC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.618delC	1.37:g.207642044delC	ENSP00000356025:p.Val206fs					CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	p.V206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	c.618delC	CCDS1478.1																																																																																				0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		7	1030						7	1030	---	---	---	---	-	207642044	C	-	207642044	7	5	27	1	0	1	0	1	0	0	0	0	3851	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-3A-A9IC-01A-11D-A38G-08	10571659	207642044	41608577	15	3288											
TRAF5	7188	broad.mit.edu	37	chr1	211534067	211534067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaggaaaacttgtgtccTgaatacccagtattttgtcc	8	9	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)ccT>ccC		TNF receptor-associated factor 5							114	103	107					1																	211534067		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534067T>C	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C						TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P	p.P189P	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	6	621	+			189					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.567T>C	CCDS1497.1																																																																																				0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		6	581	0	0	0	1	0	6	581					C	211534067	T	C	211534067	2	2	27	1	0	0	0	0	0	0	0	1	16497	1567	55	4		4	TRAF5	1	211534067	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	3892023	211534067	37716554	16	3289											
SNTG2	54221	broad.mit.edu	37	chr2	1204809	1204809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccatcgtcaccttcctcGcccatagctaaggacccgag	8	18	1	0	rs201438117	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:1204809G>A	ENST00000308624.5	+	9	741	c.612G>A	c.(610-612)tcG>tcA	p.S204S	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Silent_p.S77S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	204					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S204S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACCTTCCTCGCCCATAGCTA	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17598	0.0		0.0	False		,,,				2504	0.0					ENST00000308624.5																			2	Substitution - coding silent(2)	p.S204S(2)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(610-612)tcG>tcA		syntrophin, gamma 2		G		8,4140		0,8,2066	78	85	83		612	2.1	1	2		83	1,8439		0,1,4219	no	coding-synonymous	SNTG2	NM_018968.3		0,9,6285	AA,AG,GG		0.0118,0.1929,0.0715		204/540	1204809	9,12579	2074	4220	6294	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204809G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.612G>A	2.37:g.1204809G>A						SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	p.S204S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	741	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	204					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.612G>A	CCDS46220.1																																																																																				0.582	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		79	315	0	0	0	1	0	79	315					A	1204809	G	A	1204809	2	1	27	1	0	0	0	0	0	0	0	1	14925	1074	38	1		1	SNTG2	2	1204809	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1204809	241994564	17	3290											
LRP1B	53353	broad.mit.edu	37	chr2	141773437	141773437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccttctcaatccttcccAcgctgtcatctatttcatct	4	15	5	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:141773437A>T	ENST00000389484.3	-	13	2989	c.2018T>A	c.(2017-2019)gTg>gAg	p.V673E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					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)			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)		AATCCTTCCCACGCTGTCATC	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(2017-2019)gTg>gAg		low density lipoprotein receptor-related protein 1B							164	159	161					2																	141773437		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773437A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2018T>A	2.37:g.141773437A>T	ENSP00000374135:p.Val673Glu	TSP Lung(27;0.18)					p.V673E	NM_018557.2	NP_061027.2	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)	13	2989	-		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)	673					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2018T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94537	-3.45	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.084078	0.49305	U	0.000157	D	0.91418	0.7292	N	0.12569	0.235	0.40475	D	0.980386	D	0.58970	0.984	P	0.57679	0.825	D	0.88429	0.3034	10	0.02654	T	1	.	16.3534	0.83225	1.0:0.0:0.0:0.0	.	673	Q9NZR2	LRP1B_HUMAN	E	673;611	ENSP00000374135:V673E	ENSP00000374135:V673E	V	-	2	0	LRP1B	141489907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.311000	0.77944	0.528000	0.53228	GTG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	534	0	0	0	1	0	5	534					T	141773437	A	T	141773437	3	4	27	1	0	0	0	0	1	0	0	0	8993	159	6	5	12097	5	LRP1B	2	141773437	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	140568628	141773437	101425936	18	3291											
ANKAR	150709	broad.mit.edu	37	chr2	190603299	190603299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttcagattgttgtActggctaaagtcattagaga	9	5	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3589-3591)gtA>gtG		ankyrin and armadillo repeat containing							148	149	149					2																	190603299		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603299A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3591A>G	2.37:g.190603299A>G						ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	p.V1197V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3679	+			1197					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3591A>G	CCDS33351.2																																																																																				0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		75	371	0	0	0	1	0	75	371					G	190603299	A	G	190603299	2	3	27	1	0	0	0	0	0	0	0	1	623	378	14	4		4	ANKAR	2	190603299	Silent	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	48829862	190603299	52596074	19	3292											
PMS1	5378	broad.mit.edu	37	chr2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaatccgacatcattacaAtctgaaatgcctaaaggaat	6	8	2	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATCATTACAATCTGAAATGC	0.284			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(841-843)aAt>aGt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							73	67	69					2																	190718684		2201	4295	6496	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718684A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.842A>G	2.37:g.190718684A>G	ENSP00000406490:p.Asn281Ser					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S	p.N281S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		8	1075	+			281					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.842A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	4.982	0.182439	0.09495	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.83335	-1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35	4.6	-0.982	0.10266	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.586689	0.20108	N	0.099081	T	0.61148	0.2324	N	0.11106	0.095	0.25091	N	0.990853	B;B;B;B;B;B;B	0.20368	0.008;0.013;0.025;0.044;0.008;0.027;0.008	B;B;B;B;B;B;B	0.19666	0.026;0.012;0.026;0.022;0.026;0.017;0.026	T	0.48948	-0.8989	10	0.30078	T	0.28	-9.7476	5.5087	0.16868	0.5066:0.2523:0.2411:0.0	.	281;242;242;66;242;281;281	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	105;281;105;242;281;105;220;66	ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S	ENSP00000376149:N105S	N	+	2	0	PMS1	190426929	0.457000	0.25752	0.992000	0.48379	0.986000	0.74619	0.421000	0.21280	0.038000	0.15604	0.455000	0.32223	AAT		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			102	460	0	0	0	1	0	102	460					G	190718684	A	G	190718684	3	3	27	1	0	0	0	0	1	0	0	0	12184	101	4	4	868	4	PMS1	2	190718684	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	115385	190718684	52480689	20	3293											
CCDC150	284992	broad.mit.edu	37	chr2	197521440	197521440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaatgaagcaatttgtgCaggaaaaacagatattttat	7	5	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:197521440C>T	ENST00000389175.4	+	3	395	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	87										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAATTTGTGCAGGAAAAACA	0.418																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(259-261)gCa>gTa		coiled-coil domain containing 150							90	86	88					2																	197521440		1824	4083	5907	SO:0001583	missense	284992							g.chr2:197521440C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.260C>T	2.37:g.197521440C>T	ENSP00000373827:p.Ala87Val					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_5'UTR	p.A87V	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			3	395	+			87					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.260C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405270	0.25378	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30182	1.54	5.03	4.08	0.47627	.	1.321280	0.05387	N	0.538316	T	0.16471	0.0396	N	0.04508	-0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.19877	-1.0292	10	0.29301	T	0.29	-0.076	7.9712	0.30127	0.0:0.7363:0.1675:0.0962	.	87;87	Q8NCX0;F5H6M2	CC150_HUMAN;.	V	87	ENSP00000373827:A87V	ENSP00000373827:A87V	A	+	2	0	CCDC150	197229685	0.021000	0.18746	0.998000	0.56505	0.722000	0.41435	-0.006000	0.12833	2.632000	0.89209	0.655000	0.94253	GCA		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	223	0	0	0	1	0	4	223					T	197521440	C	T	197521440	3	4	27	1	0	0	0	0	1	0	0	0	2792	710	25	2	270	2	CCDC150	2	197521440	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	6802756	197521440	45677933	21	3294											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	9	6	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000465573.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118	123	121					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1_ENST00000409468.1_3'UTR	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	615	0	0	0	1	0	7	615					A	198367975	G	A	198367975	3	1	27	1	0	0	0	0	1	0	0	0	7459	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	846535	198367975	44831398	22	3295											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65	72	70					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	553						7	553	---	---	---	---	-	204150380	A	-	204150380	7	5	27	1	0	1	0	1	0	0	0	0	4163	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-3A-A9IC-01A-11D-A38G-08	5782405	204150380	39048993	23	3296											
ANKRD28	23243	broad.mit.edu	37	chr3	15752737	15752737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccagctgcagctgcatGtagacaagtcctgccaaaat	8	14	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:15752737G>A	ENST00000399451.2	-	12	1595	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	410						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCAGCTGCATGTAGACAAGTC	0.313																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1228-1230)Cat>Tat		ankyrin repeat domain 28							65	65	65					3																	15752737		1820	4082	5902	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15752737G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1228C>T	3.37:g.15752737G>A	ENSP00000382379:p.His410Tyr					ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR	p.H410Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			12	1595	-			410					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1228C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799957	0.90538	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71222	-0.55;-0.55;-0.55	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.86664	0.1906	10	0.51188	T	0.08	.	19.584	0.95484	0.0:0.0:1.0:0.0	.	443;440;410	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Y	410;443;410	ENSP00000382379:H410Y;ENSP00000373287:H443Y;ENSP00000397341:H410Y	ENSP00000373287:H443Y	H	-	1	0	ANKRD28	15727741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.779000	0.99018	2.698000	0.92095	0.655000	0.94253	CAT		0.313	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		5	209	0	0	0	1	0	5	209					A	15752737	G	A	15752737	3	1	27	1	0	0	0	0	1	0	0	0	656	1377	48	2	2001	2	ANKRD28	3	15752737	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		15752737	182269693	24	3297											
TGFBR2	7048	broad.mit.edu	37	chr3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgggaccacgacccagAggcccgtctcacagcccagt	12	16	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACGACCCAGAGGCCCGTCTC	0.597																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1576-1578)gAg>gTg		transforming growth factor, beta receptor II (70/80kDa)							71	65	67					3																	30732964		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732964A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1577A>T	3.37:g.30732964A>T	ENSP00000295754:p.Glu526Val					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	p.E526V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1959	+			526		E -> Q (in esophageal cancer).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1577A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007072	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66995	-0.24;-0.24	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83188	-0.0085	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	V	526;551;356	ENSP00000295754:E526V;ENSP00000351905:E551V	ENSP00000295754:E526V	E	+	2	0	TGFBR2	30707968	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	GAG		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			62	226	0	0	0	1	0	62	226					T	30732964	A	T	30732964	3	4	27	1	0	0	0	0	1	0	0	0	15874	304	11	5	1682	5	TGFBR2	3	30732964	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	14980227	30732964	167289466	25	3298											
HHATL	57467	broad.mit.edu	37	chr3	42739123	42739123	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggcctgcctgggctcGgatgtgccacagctcaccct	12	15	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:42739123G>A	ENST00000441594.1	-	7	1003	c.742C>T	c.(742-744)Cga>Tga	p.R248*	HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	248					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCTGGGCTCGGATGTGCCAC	0.617																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(742-744)Cga>Tga		hedgehog acyltransferase-like							103	93	96					3																	42739123		2203	4300	6503	SO:0001587	stop_gained	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739123G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.742C>T	3.37:g.42739123G>A	ENSP00000405423:p.Arg248*					HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	7	1003	-			248					Q8TBG3|Q9ULP7	Nonsense_Mutation	SNP	ENST00000441594.1	37	c.742C>T	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	g	36	5.690128	0.96793	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	.	.	.	4.99	4.09	0.47781	.	0.410133	0.27622	N	0.018551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.3238	14.236	0.65927	0.0:0.0:0.8496:0.1504	.	.	.	.	X	248;248;157;183	.	ENSP00000310621:R248X	R	-	1	2	HHATL	42714127	0.983000	0.35010	0.973000	0.42090	0.737000	0.42083	2.510000	0.45468	1.271000	0.44313	0.558000	0.71614	CGA		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		5	288	0	0	0	1	0	5	288					A	42739123	G	A	42739123	4	1	27	1	0	0	0	0	0	1	0	0	7120	1124	39	1	796	1	HHATL	3	42739123	Nonsense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	12006159	42739123	155283307	26	3299											
MITF	4286	broad.mit.edu	37	chr3	69985877	69985877	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctaaaacattgttatgCtggaaatgctagaatataat	6	7	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:69985877C>T	ENST00000448226.2	+	3	481				MITF_ENST00000394355.2_Intron|MITF_ENST00000394351.3_Silent_p.L2L|MITF_ENST00000314589.5_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000352241.4_Intron|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000328528.6_Intron|MITF_ENST00000472437.1_Intron			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CATTGTTATGCTGGAAATGCT	0.348			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000394351.3				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(4-6)Ctg>Ttg		microphthalmia-associated transcription factor							109	98	102					3																	69985877		2203	4300	6503	SO:0001627	intron_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69985877C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.355-1096C>T	3.37:g.69985877C>T						MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000328528.6_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000352241.4_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron	p.L2L	NM_000248.3	NP_000239.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	1	124	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	0					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.4C>T																																																																																					0.348	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		11	185	0	0	0	1	0	11	185					T	69985877	C	T	69985877	1	4	27	0	1	0	0	0	0	0	0	0	9637	796	28	2		2	MITF	3	69985877	Intron	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	27246754	69985877	128036553	27	3300											
BOC	91653	broad.mit.edu	37	chr3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcttgggccttgtgCcagttgaagaggtggacagt	15	8	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167	180	176					3																	113005548		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser					BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S	p.P1062S			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3888	+			1062					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3184C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		9	1216	0	0	0	1	0	9	1216					T	113005548	C	T	113005548	3	4	27	1	0	0	0	0	1	0	0	0	1483	739	26	2	3254	2	BOC	3	113005548	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	43019671	113005548	85016882	28	3301											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	9	9	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)						143	142	142					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His					CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron	p.R85H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	370	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		8	793	0	0	0	1	0	8	793					A	121822548	G	A	121822548	3	1	27	1	0	0	0	0	1	0	0	0	3052	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	8817000	121822548	76199882	29	3302											
SKIL	6498	broad.mit.edu	37	chr3	170078560	170078561	+	Frame_Shift_Del	DEL	TG	TG	-													tccacagaactcactcagacTgtgttggaaggggaatctat							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:170078560_170078561delTG	ENST00000458537.3	+	1	1150_1151	c.441_442delTG	c.(439-444)actgtgfs	p.V148fs	SKIL_ENST00000426052.2_Frame_Shift_Del_p.V128fs|SKIL_ENST00000259119.4_Frame_Shift_Del_p.V148fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.V148fs	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	148					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|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 axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCACTCAGACTGTGTTGGAAGG	0.45																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(439-444)actgfs		SKI-like oncogene																																				SO:0001589	frameshift_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078560_170078561delTG	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.441_442delTG	3.37:g.170078562_170078563delTG	ENSP00000415243:p.Val148fs					SKIL_ENST00000259119.4_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000426052.2_Frame_Shift_Del_p.TV127fs	p.TV147fs	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1150_1151	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		147					A6NGT1|B4DT50|O00464|P12756|Q07501	Frame_Shift_Del	DEL	ENST00000458537.3	37	c.441_442delTG	CCDS33890.1																																																																																				0.45	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		12	1024						12	1024	---	---	---	---	-	170078561	TG	-	170078560	7	5	27	1	0	1	0	1	0	0	0	0	14408	1567	55	0	443	0	SKIL	3	170078560	Frame_Shift_Del	DEL	TG	TCGA-3A-A9IC-01A-11D-A38G-08	48256012	170078560	27943870	30	3303											
LDB2	9079	broad.mit.edu	37	chr4	16504390	16504390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcctcgtcgtccatgCcgttggccgcatcatattgc	9	15	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:16504390C>T	ENST00000304523.5	-	8	1321	c.998G>A	c.(997-999)gGc>gAc	p.G333D	LDB2_ENST00000515064.1_Missense_Mutation_p.G331D|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	333	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTCGTCCATGCCGTTGGCCGC	0.522																																						ENST00000304523.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(997-999)gGc>gAc		LIM domain binding 2							239	211	221					4																	16504390		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504390C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.998G>A	4.37:g.16504390C>T	ENSP00000306772:p.Gly333Asp					LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D	p.G333D	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN			8	1321	-			333			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.998G>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.144434|4.144434	0.77888|0.77888	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.23348	.|1.91;1.91	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.52933|0.52933	0.1765|0.1765	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.995;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.992;0.945;0.998;0.999	T|T	0.49579|0.49579	-0.8925|-0.8925	5|10	.|0.41790	.|T	.|0.15	-15.8004|-15.8004	18.3199|18.3199	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|297;331;333;307	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	T|D	254|331;333	.|ENSP00000422552:G331D;ENSP00000306772:G333D	.|ENSP00000306772:G333D	A|G	-|-	1|2	0|0	LDB2|LDB2	16113488|16113488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.522	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			6	607	0	0	0	1	0	6	607					T	16504390	C	T	16504390	3	4	27	1	0	0	0	0	1	0	0	0	8727	739	26	2	127	2	LDB2	4	16504390	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		16504390	174649886	31	3304											
UGT2A2	10941	broad.mit.edu	37	chr4	70505048	70505048	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttggtctatggtcaAtccacagcattatcatatgc	10	8	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:70505048A>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.I104N|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTATGGTCAATCCACAGCAT	0.368																																						ENST00000457664.2																			0											c.(310-312)aTt>aAt									117	113	114					4																	70505048		1858	4097	5955	SO:0001627	intron_variant	0							g.chr4:70505048A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7599T>A	4.37:g.70505048A>T						UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000512704.1_Intron	p.I104N	NM_001105677.2	NP_001099147.2					1	310	-								B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.311T>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735923	0.15574	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61859	0.16;0.07	5.85	3.38	0.38709	.	.	.	.	.	T	0.41604	0.1166	N	0.14661	0.345	.	.	.	B;P	0.39282	0.427;0.666	B;B	0.42827	0.399;0.328	T	0.49263	-0.8958	8	0.40728	T	0.16	.	7.2167	0.25963	0.7765:0.1468:0.0766:0.0	.	305;104	E9PDM7;Q9Y4X1-2	.;.	N	104;305	ENSP00000387888:I104N;ENSP00000425497:I305N	ENSP00000387888:I104N	I	-	2	0	UGT2A1	70539637	0.004000	0.15560	0.888000	0.34837	0.834000	0.47266	2.203000	0.42752	0.464000	0.27142	-0.446000	0.05623	ATT		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		7	361	0	0	0	1	0	7	361					T	70505048	A	T	70505048	1	4	27	0	1	0	0	0	0	0	0	0	17008	101	4	5		5	UGT2A2	4	70505048	Intron	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	54000658	70505048	120649228	32	3305											
ENAM	10117	broad.mit.edu	37	chr4	71508016	71508016	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaatgggattggcccActccctgcagtcaacgcttc	9	14	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(871-873)ccA>ccT		enamelin							66	62	63					4																	71508016		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508016A>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.873A>T	4.37:g.71508016A>T						ENAM_ENST00000472903.1_Intron	p.P291P	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1154	+			291					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.873A>T	CCDS3544.2																																																																																				0.512	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		5	299	0	0	0	1	0	5	299					T	71508016	A	T	71508016	2	4	27	1	0	0	0	0	0	0	0	1	5130	146	6	5		5	ENAM	4	71508016	Silent	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	1002968	71508016	119646260	33	3306											
SORBS2	8470	broad.mit.edu	37	chr4	186544438	186544439	+	Frame_Shift_Ins	INS	-	-	T													tctgtttcttaggagccgaaINSttttttttcctccggaaagg							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:186544438_186544439insT	ENST00000284776.7	-	13	2641_2642	c.2132_2133insA	c.(2131-2133)aatfs	p.N711fs	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.N711fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.N615fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.N811fs|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	711					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGCCGAATTTTTTTTCCT	0.45																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2131-2133)atcfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544438_186544439insT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2133dupA	4.37:g.186544446_186544446dupT	ENSP00000284776:p.Asn711fs					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.I615fs|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.I711fs|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.I811fs|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron	p.I711fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2695_2696	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	711					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.2132_2133insA	CCDS3845.1																																																																																				0.45	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	1066						7	1066	---	---	---	---	T	186544439	-	T	186544438	7	5	27	1	0	1	1	0	0	0	0	0	14978	98	4	0	1205	0	SORBS2	4	186544438	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	115036422	186544438	4609838	34	3307											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	179						8	179	---	---	---	---	A	190878556	-	A	190878555	7	5	27	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	4334117	190878555	275721	35	3308											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	193						9	193	---	---	---	---	-	1879671	CCT	-	1879669	7	5	27	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-3A-A9IC-01A-11D-A38G-08		1879669	179035591	36	3309											
HMGCR	3156	broad.mit.edu	37	chr5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttgttcatgctcacagtCgctggatagctgatccttct	8	11	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(814-816)Cgc>Tgc		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						128	129	128					5																	74646647		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646647C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.814C>T	5.37:g.74646647C>T	ENSP00000287936:p.Arg272Cys					HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	9	970	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	272					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.814C>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171053	0.94807	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.59502	0.37;0.37;0.26	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.977;0.945;0.986;0.964	T	0.80067	-0.1537	10	0.72032	D	0.01	-13.5435	20.3248	0.98698	0.0:1.0:0.0:0.0	.	272;272;272;272	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	C	272;203;272;272	ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C	ENSP00000287936:R272C	R	+	1	0	HMGCR	74682403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.924000	0.70054	2.818000	0.97014	0.655000	0.94253	CGC		0.368	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			7	379	0	0	0	1	0	7	379					T	74646647	C	T	74646647	3	4	27	1	0	0	0	0	1	0	0	0	7261	884	31	1	844	1	HMGCR	5	74646647	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	72766978	74646647	106268613	37	3310											
PCDHB12	56124	broad.mit.edu	37	chr5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgcaagacatttgaaatTaatcaaaagtctggtgacat	7	6	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	294	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)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(880-882)atT>atG									80	86	84					5																	140589361		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589361T>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.882T>G	5.37:g.140589361T>G	ENSP00000239450:p.Ile294Met					PCDHB12_ENST00000541609.1_Intron	p.I294M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1071	+			294			Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.882T>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390776	0.25118	.	.	ENSG00000120328	ENST00000239450	T	0.72615	-0.67	4.06	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70622	0.3245	M	0.81614	2.55	0.39524	D	0.968565	P	0.44429	0.835	P	0.49477	0.612	T	0.68341	-0.5434	9	0.59425	D	0.04	.	0.1734	0.00116	0.2491:0.1891:0.1861:0.3757	.	294	Q9Y5F1	PCDBC_HUMAN	M	294	ENSP00000239450:I294M	ENSP00000239450:I294M	I	+	3	3	PCDHB12	140569545	0.000000	0.05858	0.033000	0.17914	0.538000	0.34931	-4.588000	0.00212	0.078000	0.16900	0.402000	0.26972	ATT		0.398	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		48	627	0	0	0	1	0	48	627					G	140589361	T	G	140589361	3	3	27	1	0	0	0	0	1	0	0	0	11579	1742	61	4	884	4	PCDHB12	5	140589361	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	65942714	140589361	40325899	38	3311											
TCERG1	10915	broad.mit.edu	37	chr5	145838683	145838683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcccaagcccaagcCcaggcccaggctcaggctca	11	19	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagcccaagcccaggcccagg	0.701																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(673-675)gcC>gcT		transcription elongation regulator 1							16	21	20					5																	145838683		2202	4300	6502	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838683C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.675C>T	5.37:g.145838683C>T						TCERG1_ENST00000394421.2_Silent_p.A225A	p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	713	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	225			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.675C>T	CCDS4282.1																																																																																				0.701	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		50	115	0	0	0	1	0	50	115					T	145838683	C	T	145838683	2	4	27	1	0	0	0	0	0	0	0	1	15737	610	22	2		2	TCERG1	5	145838683	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	5249322	145838683	35076577	39	3312											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcgcttccgaggcttcCgctacccggaggctgcaggc	15	15	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(157-159)Cgc>Tgc		zinc finger with KRAB and SCAN domains 3							55	64	61					6																	28327520		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327520C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.157C>T	6.37:g.28327520C>T	ENSP00000366465:p.Arg53Cys					ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	p.R53C	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			3	454	+			53			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.157C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292117	0.40594	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04317	3.65;3.65	3.83	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03608	0.0103	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54084	-0.8346	9	0.35671	T	0.21	.	2.8501	0.05555	0.3008:0.3842:0.0:0.315	.	53	Q9BRR0	ZKSC3_HUMAN	C	53	ENSP00000252211:R53C;ENSP00000366465:R53C	ENSP00000252211:R53C	R	+	1	0	ZKSCAN3	28435499	0.711000	0.27906	0.995000	0.50966	0.580000	0.36256	-0.636000	0.05465	0.404000	0.25506	0.557000	0.71058	CGC		0.632	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		80	420	0	0	0	1	0	80	420					T	28327520	C	T	28327520	3	4	27	1	0	0	0	0	1	0	0	0	17741	652	23	1	159	1	ZKSCAN3	6	28327520	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		28327520	142787547	40	3313											
C6orf154	221424	broad.mit.edu	37	chr6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-													cgccagcccctcctgccactTcctcctcctcctctccctca							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		7	242						7	242	---	---	---	---	-	43475291	TCC	-	43475289	7	5	27	1	0	1	0	1	0	0	0	0	2346	1783	62	0	173	0	C6orf154	6	43475289	In_Frame_Del	DEL	TCC	TCGA-3A-A9IC-01A-11D-A38G-08	15147769	43475289	127639778	41	3314											
REV3L	5980	broad.mit.edu	37	chr6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggattactgcaaaatggttcCtggtaaatagtctcagacag	10	7	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000358835.3	-	14	6169	c.5715G>C	c.(5713-5715)caG>caC	p.Q1905H	REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATGGTTCCTGGTAAATAG	0.383								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5479-5481)caG>caC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							108	114	112					6																	111693843		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693843C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5715G>C	6.37:g.111693843C>G	ENSP00000351697:p.Gln1905His					REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000358835.3_Missense_Mutation_p.Q1905H	p.Q1827H			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6297	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1905					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5481G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209683	0.39003	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	1.84	0.25277	Ribonuclease H-like (1);	0.147380	0.49916	D	0.000123	T	0.60637	0.2284	M	0.81341	2.54	0.35196	D	0.773874	D	0.89917	1.0	D	0.83275	0.996	T	0.66069	-0.6015	10	0.87932	D	0	-2.7769	9.4873	0.38937	0.0:0.5989:0.0:0.4011	.	1905	O60673	DPOLZ_HUMAN	H	1905;1905;1905;1827	ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H	ENSP00000351697:Q1905H	Q	-	3	2	REV3L	111800536	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.348000	0.20031	0.459000	0.27016	-0.140000	0.14226	CAG		0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		68	486	0	0	0	1	0	68	486					G	111693843	C	G	111693843	3	3	27	1	0	0	0	0	1	0	0	0	13290	680	24	5	3757	5	REV3L	6	111693843	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	68218554	111693843	59421224	42	3315											
SYNE1	23345	broad.mit.edu	37	chr6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctgctgcgcctgcgCgatctgctgctgcacatctc	9	17	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCCTGCGCGATCTGCTGC	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3889-3891)Gcg>Acg		spectrin repeat containing, nuclear envelope 1							79	70	73					6																	152763329		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763329C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3889G>A	6.37:g.152763329C>T	ENSP00000356224:p.Ala1297Thr	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T	p.A1297T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4490	-		Ovarian(120;0.0955)	1297					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3889G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	c	0.960	-0.703603	0.03255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87334	0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24	5.41	2.71	0.32032	.	1.087730	0.07067	N	0.834808	T	0.59432	0.2193	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.003;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.002;0.0;0.002	T	0.47381	-0.9122	10	0.19147	T	0.46	.	5.2817	0.15678	0.1385:0.5754:0.0:0.2861	.	1280;1297;1287;1297;1297;1304	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1297;1304;1297;1304;1363;1297;1287;1297	ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T	ENSP00000265368:A1297T	A	-	1	0	SYNE1	152805022	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.645000	0.24782	0.367000	0.24454	-0.127000	0.14921	GCG		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		48	272	0	0	0	1	0	48	272					T	152763329	C	T	152763329	3	4	27	1	0	0	0	0	1	0	0	0	15497	768	27	1	23041	1	SYNE1	6	152763329	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	41069486	152763329	18351738	43	3316											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactctcatcaatttccaCgcaggtctcctggttgctga	7	14	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(124-126)Gtg>Atg		phosphoribosyl pyrophosphate synthetase 1-like 1							269	264	266					7																	18067282		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067282C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.124G>A	7.37:g.18067282C>T	ENSP00000424595:p.Val42Met						p.V42M	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	204	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		42					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.124G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066850	0.76301	.	.	ENSG00000229937	ENST00000506618	D	0.93019	-3.15	4.27	4.27	0.50696	.	.	.	.	.	D	0.97629	0.9223	H	0.96547	3.84	.	.	.	D	0.89917	1.0	D	0.78314	0.991	D	0.98556	1.0639	8	0.87932	D	0	.	14.5862	0.68326	0.0:1.0:0.0:0.0	.	42	P21108	PRPS3_HUMAN	M	42	ENSP00000424595:V42M	ENSP00000424595:V42M	V	-	1	0	PRPS1L1	18033807	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	5.366000	0.66122	2.375000	0.81037	0.555000	0.69702	GTG		0.502	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		12	950	0	0	0	1	0	12	950					T	18067282	C	T	18067282	3	4	27	1	0	0	0	0	1	0	0	0	12626	536	19	1	836	1	PRPS1L1	7	18067282	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		18067282	141071381	44	3317											
PKD1L1	168507	broad.mit.edu	37	chr7	47898412	47898412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtcaatcacaaatggCcccgagaactggccttgagc	9	13	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:47898412C>T	ENST00000289672.2	-	27	4271	c.4221G>A	c.(4219-4221)ggG>ggA	p.G1407G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1407	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		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						TCACAAATGGCCCCGAGAACT	0.478																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(4219-4221)ggG>ggA		polycystic kidney disease 1 like 1							89	85	87					7																	47898412		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47898412C>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.4221G>A	7.37:g.47898412C>T							p.G1407G	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4271	-			1407			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4221G>A	CCDS34633.1																																																																																				0.478	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		5	333	0	0	0	1	0	5	333					T	47898412	C	T	47898412	2	4	27	1	0	0	0	0	0	0	0	1	12006	726	26	2		2	PKD1L1	7	47898412	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	29831130	47898412	111240251	45	3318											
DNAJC30	84277	broad.mit.edu	37	chr7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtgcgcgaatacgagcagtCgccctgggaataagtcctcg	13	12	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000265758.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607																																						ENST00000395176.2																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(124-126)Gac>Tac		DnaJ (Hsp40) homolog, subfamily C, member 30							80	92	88					7																	73097630		2200	4293	6493	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097630C>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.124G>T	7.37:g.73097630C>A	ENSP00000378605:p.Asp42Tyr					WBSCR22_ENST00000464615.1_3'UTR	p.D42Y	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN			1	153	-			42					Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.124G>T	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297340	0.60086	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.57907	0.37	4.66	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.393472	0.19126	N	0.122048	T	0.50803	0.1637	L	0.29908	0.895	0.29622	N	0.846083	D	0.62365	0.991	P	0.57283	0.817	T	0.47548	-0.9109	10	0.51188	T	0.08	-13.1658	6.82	0.23852	0.0:0.7956:0.0:0.2044	.	42	Q96LL9	DJC30_HUMAN	Y	42;39	ENSP00000378605:D42Y	ENSP00000378605:D42Y	D	-	1	0	DNAJC30	72735566	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.068000	0.14531	1.167000	0.42706	0.655000	0.94253	GAC		0.607	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			80	405	1	0	3.27973e-32	1	3.63503e-32	80	405					A	73097630	C	A	73097630	3	1	27	1	0	0	0	0	1	0	0	0	4664	884	31	3	560	3	DNAJC30	7	73097630	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	25199218	73097630	86041033	46	3319											
GTPBP10	85865	broad.mit.edu	37	chr7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaatgacagaattttgGtagctcaaggaggtcttggt	12	4	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(352-354)Gta>Ata		GTP-binding protein 10 (putative)							93	99	97					7																	89984432		2203	4299	6502	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89984432G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.352G>A	7.37:g.89984432G>A	ENSP00000222511:p.Val118Ile					GTPBP10_ENST00000257659.8_Intron	p.V118I	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			4	418	+			118					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.352G>A	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207693	0.58343	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.23147	1.92;1.92;1.92	5.93	1.65	0.23941	GTP1/OBG subdomain (3);	0.255751	0.38111	N	0.001808	T	0.20047	0.0482	N	0.25825	0.765	0.41162	D	0.986103	P;B;B	0.34639	0.461;0.142;0.087	B;B;B	0.40940	0.186;0.134;0.344	T	0.04723	-1.0931	9	.	.	.	-5.9962	11.8274	0.52275	0.2753:0.0:0.7247:0.0	.	118;109;135	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	I	109;135;118	ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I	.	V	+	1	0	GTPBP10	89822368	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.014000	0.57145	0.417000	0.25871	0.655000	0.94253	GTA		0.318	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		9	738	0	0	0	1	0	9	738					A	89984432	G	A	89984432	3	1	27	1	0	0	0	0	1	0	0	0	6909	1261	44	2	366	2	GTPBP10	7	89984432	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	16886802	89984432	69154231	47	3320											
EPO	2056	broad.mit.edu	37	chr7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcactgctgacactttccGcaaactcttccgagtctact	5	14	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACACTTTCCGCAAACTCTTC	0.572																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(496-498)cGc>cAc		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						126	129	128					7																	100320671		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320671G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	7.37:g.100320671G>A	ENSP00000252723:p.Arg166His						p.R166H	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	678	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		166					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.497G>A	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	EPO	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC		0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		6	596	0	0	0	1	0	6	596					A	100320671	G	A	100320671	3	1	27	1	0	0	0	0	1	0	0	0	5206	1087	38	1	515	1	EPO	7	100320671	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	10336239	100320671	58817992	48	3321											
MUC17	140453	broad.mit.edu	37	chr7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccaccgctgtccccaCgaatactacaattaagagca	6	15	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115					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)					GCTGTCCCCACGAATACTACA	0.478																																						ENST00000306151.4																			0				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						c.(12343-12345)aCg>aTg		mucin 17, cell surface associated							135	141	139					7																	100687041		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687041C>T	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.12344C>T	7.37:g.100687041C>T	ENSP00000302716:p.Thr4115Met						p.T4115M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	12408	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4115					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12344C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	MUC17	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	258	0	0	0	1	0	42	258					T	100687041	C	T	100687041	3	4	27	1	0	0	0	0	1	0	0	0	10015	536	19	1	12354	1	MUC17	7	100687041	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	366370	100687041	58451622	49	3322											
DPP6	1804	broad.mit.edu	37	chr7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcgacgccaccacggGggtctgcacgaaggtacgcg	14	15	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000377770.3	+	11	1388	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000404039.1_Missense_Mutation_p.G352E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCACCACGGGGGTCTGCACG	0.672																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1054-1056)gGg>gAg		dipeptidyl-peptidase 6							25	28	27					7																	154585899		2047	4184	6231	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585899G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1247G>A	7.37:g.154585899G>A	ENSP00000367001:p.Gly416Glu					DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E	p.G352E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1642	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	416						Missense_Mutation	SNP	ENST00000377770.3	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.469040	0.96274	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.91635	0.969;0.997;0.999;0.998	T	0.79683	-0.1701	10	0.59425	D	0.04	-17.0272	16.5503	0.84471	0.0:0.0:1.0:0.0	.	309;354;416;352	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	352;416;354;309	ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E	ENSP00000328226:G354E	G	+	2	0	DPP6	154216832	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	GGG		0.672	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		19	79	0	0	0	1	0	19	79					A	154585899	G	A	154585899	3	1	27	1	0	0	0	0	1	0	0	0	4746	1232	43	2	1405	2	DPP6	7	154585899	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	53898858	154585899	4552764	50	3323											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-													gcggagccctctgctgtggcTtttttttgagattctgctgt							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134	143	140					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	766						8	766	---	---	---	---	-	37728933	T	-	37728933	7	5	27	1	0	1	0	1	0	0	0	0	12943	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Del	DEL	T	TCGA-3A-A9IC-01A-11D-A38G-08		37728933	108635089	51	3324											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203	182	189					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	1188						8	1188	---	---	---	---	-	38205092	T	-	38205092	7	5	27	1	0	1	0	1	0	0	0	0	17417	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-3A-A9IC-01A-11D-A38G-08	476159	38205092	108158930	52	3325											
LRRCC1	85444	broad.mit.edu	37	chr8	86022348	86022348	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattttactttttttttttAggacttgaagaactaattaa	4	3	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																						ENST00000414626.2																			4	Unknown(4)	p.?(4)	kidney(4)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.e2-1		leucine rich repeat and coiled-coil centrosomal protein 1							53	48	49					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86022348A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T						LRRCC1_ENST00000360375.3_Splice_Site				Q9C099	LRCC1_HUMAN			2	1139	+								B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37		CCDS43750.1																																																																																				0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron	6	514	0	0	0	1	0	6	514					T	86022348	A	T	86022348	5	4	27	1	0	0	0	0	0	0	1	0	9064	434	15	5	319	5	LRRCC1	8	86022348	Splice_Site	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	47817256	86022348	60341674	53	3326											
ADCY8	114	broad.mit.edu	37	chr8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggccccactgtttctcCggtctgaggagctcactgac	11	13	3	2	rs386730061|rs557075212	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGTTTCTCCGGTCTGAGGA	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1831-1833)cGg>cAg		adenylate cyclase 8 (brain)							104	93	97					8																	131916097		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916097C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1832G>A	8.37:g.131916097C>T	ENSP00000286355:p.Arg611Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3924	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		611						Missense_Mutation	SNP	ENST00000286355.5	37	c.1832G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	c	15.47	2.843171	0.51057	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.81247	-1.34;-1.37;-1.47	6.17	3.43	0.39272	.	0.333655	0.37136	N	0.002223	T	0.71685	0.3369	L	0.55213	1.73	0.22292	N	0.999227	B;B	0.14012	0.004;0.009	B;B	0.08055	0.002;0.003	T	0.54282	-0.8317	10	0.15952	T	0.53	.	8.9319	0.35675	0.0:0.743:0.1241:0.1329	.	611;611	E7EVL1;P40145	.;ADCY8_HUMAN	Q	611;611;226	ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q	ENSP00000286355:R611Q	R	-	2	0	ADCY8	131985279	1.000000	0.71417	0.984000	0.44739	0.292000	0.27327	1.969000	0.40510	0.945000	0.37605	-0.119000	0.15052	CGG		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			47	294	0	0	0	1	0	47	294					T	131916097	C	T	131916097	3	4	27	1	0	0	0	0	1	0	0	0	300	652	23	1	1971	1	ADCY8	8	131916097	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	45893749	131916097	14447925	54	3327											
MLLT3	4300	broad.mit.edu	37	chr9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtggtatgaatactcctatta	10	10	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgGTATGAAT	0.493			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16	20	18					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S149T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	335	0	0	0	1	0	5	335					G	20414398	C	G	20414398	3	3	27	1	0	0	0	0	1	0	0	0	9669	797	28	5	1288	5	MLLT3	9	20414398	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		20414398	120799033	55	3328											
OR1N2	138882	broad.mit.edu	37	chr9	125315996	125315997	+	Frame_Shift_Ins	INS	-	-	G													acactgttgctgacccgcgtINSggctttctgtgcccagaaag							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:125315996_125315997insG	ENST00000373688.2	+	1	606_607	c.548_549insG	c.(547-552)gtggctfs	p.A184fs		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACCCGCGTGGCTTTCTGTG	0.525																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(547-549)ggcfs		olfactory receptor, family 1, subfamily N, member 2																																				SO:0001589	frameshift_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315996_125315997insG		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.550dupG	9.37:g.125315998_125315998dupG	ENSP00000362792:p.Ala184fs						p.G183fs	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	606_607	+			183					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Frame_Shift_Ins	INS	ENST00000373688.2	37	c.548_549insG	CCDS35123.1																																																																																				0.525	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			8	471						8	471	---	---	---	---	G	125315997	-	G	125315996	7	5	27	1	0	1	1	0	0	0	0	0	11012	1696	59	0	550	0	OR1N2	9	125315996	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	104901598	125315996	15897435	56	3329											
EHMT1	79813	broad.mit.edu	37	chr9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagcttgcttgccttttGttttagcagctgcagtatct	8	8	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358																																						ENST00000460843.1																			4	Substitution - Missense(4)	p.V249F(2)|p.V280F(2)	endometrium(4)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(838-840)Gtt>Ttt		euchromatic histone-lysine N-methyltransferase 1							35	35	35					9																	140637837		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637837G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe					EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000371394.2_3'UTR	p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	865	+	all_cancers(76;0.164)		280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.838G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT		0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		16	121	1	0	1.96292e-10	1	2.08855e-10	16	121					T	140637837	G	T	140637837	3	4	27	1	0	0	0	0	1	0	0	0	4999	1377	48	3	856	3	EHMT1	9	140637837	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	15321841	140637837	575594	57	3330											
ANKRD30A	91074	broad.mit.edu	37	chr10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgtttacccaaggctAcgcatcaaaaagaaatagat	8	7	1	2	rs199828555	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001					ENST00000374660.1																			2	Substitution - Missense(2)	p.T768A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2659-2661)Acg>Gcg		ankyrin repeat domain 30A							13	10	11					10																	37478443		386	1018	1404	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37478443A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR	p.T887A			Q9BXX3	AN30A_HUMAN			31	2758	+			943					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2659A>G		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	293	0	0	0	1	0	5	293					G	37478443	A	G	37478443	3	3	27	1	0	0	0	0	1	0	0	0	658	391	14	4	2400	4	ANKRD30A	10	37478443	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08		37478443	98056304	58	3331											
PLA2G12B	84647	broad.mit.edu	37	chr10	74714396	74714397	+	Frame_Shift_Ins	INS	-	-	C													tgtcgctctgagccaggccaINScccccaaggctgagccacaa							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:74714396_74714397insC	ENST00000373032.3	-	1	139_140	c.47_48insG	c.(46-48)ggtfs	p.G16fs		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	16					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGCCAGGCCACCCCCAAGGCT	0.594																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(46-48)gggfs		phospholipase A2, group XIIB																																				SO:0001589	frameshift_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74714396_74714397insC	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.48dupG	10.37:g.74714401_74714401dupC	ENSP00000362123:p.Gly16fs						p.G16fs	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			1	139_140	-	Prostate(51;0.0198)		16					B7ZL23|Q52LB2|Q96Q99	Frame_Shift_Ins	INS	ENST00000373032.3	37	c.47_48insG	CCDS7319.1																																																																																				0.594	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		7	448						7	448	---	---	---	---	C	74714397	-	C	74714396	7	5	27	1	0	1	1	0	0	0	0	0	12033	146	6	0	555	0	PLA2G12B	10	74714396	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	37235953	74714396	60820351	59	3332											
MUC6	4588	broad.mit.edu	37	chr11	1016106	1016106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggggtgggagacacgGtaacagtggatatggggagt	20	3	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:1016106G>A	ENST00000421673.2	-	31	6745	c.6695C>T	c.(6694-6696)aCc>aTc	p.T2232I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2232	Ser-rich.|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)			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)		GGGAGACACGGTAACAGTGGA	0.602																																						ENST00000421673.2																			0				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						c.(6694-6696)aCc>aTc		mucin 6, oligomeric mucus/gel-forming							65	77	73					11																	1016106		2151	4251	6402	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016106G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6695C>T	11.37:g.1016106G>A	ENSP00000406861:p.Thr2232Ile						p.T2232I	NM_005961.2	NP_005952.2	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	6745	-		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)	2232			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6695C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214525	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.18960	2.18	2.14	-0.539	0.11865	.	.	.	.	.	T	0.07638	0.0192	N	0.14661	0.345	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.26430	-1.0103	9	0.30078	T	0.28	.	3.3997	0.07319	0.152:0.0:0.396:0.452	.	2232	Q6W4X9	MUC6_HUMAN	I	2232	ENSP00000406861:T2232I	ENSP00000406861:T2232I	T	-	2	0	MUC6	1006106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.066000	0.14489	-0.364000	0.08088	0.393000	0.25936	ACC		0.602	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		4	274	0	0	0	1	0	4	274					A	1016106	G	A	1016106	3	1	27	1	0	0	0	0	1	0	0	0	10021	1261	44	2	636	2	MUC6	11	1016106	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1016106	133990410	60	3333											
SMPD1	6609	broad.mit.edu	37	chr11	6413007	6413007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttctggcctgccgcccGcatcccggccaggtgccgga	16	16	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:6413007G>A	ENST00000342245.4	+	2	880	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCTGCCGCCCGCATCCCGGCC	0.672																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(712-714)Gca>Aca		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						42	51	48					11																	6413007		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413007G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.712G>A	11.37:g.6413007G>A	ENSP00000340409:p.Ala238Thr					SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T	p.A238T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	880	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	236					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.712G>A	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158173	0.01686	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10288	2.9;2.91;2.89;2.9	5.15	-1.88	0.07713	Metallophosphoesterase domain (1);	1.029790	0.07657	N	0.932959	T	0.04907	0.0132	N	0.17800	0.525	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.009	B;B;B	0.09377	0.003;0.004;0.004	T	0.45264	-0.9273	10	0.11182	T	0.66	-34.8036	1.7151	0.02900	0.4933:0.1325:0.2251:0.1491	.	237;238;236	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	238;238;238;237	ENSP00000299397:A238T;ENSP00000349203:A238T;ENSP00000340409:A238T;ENSP00000435350:A237T	ENSP00000299397:A238T	A	+	1	0	SMPD1	6369583	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.087000	0.03383	0.025000	0.15241	-0.345000	0.07892	GCA		0.672	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		5	277	0	0	0	1	0	5	277					A	6413007	G	A	6413007	3	1	27	1	0	0	0	0	1	0	0	0	14854	1087	38	1	718	1	SMPD1	11	6413007	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5396901	6413007	128593509	61	3334											
PRDM11	56981	broad.mit.edu	37	chr11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaataccaggatgacGcctacagtcagtgtgcaaca	8	13	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000530656.1	+	7	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	375							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1123-1125)Gcc>Acc		PR domain containing 11							114	119	117					11																	45246046		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246046G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1123G>A	11.37:g.45246046G>A	ENSP00000435976:p.Ala375Thr					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T	p.A375T			Q9NQV5	PRD11_HUMAN			8	1372	+			375					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	G	7.057	0.565572	0.13560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.89	5.41	1.86	0.25419	.	0.907108	0.09408	N	0.806162	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33904	-0.9850	10	0.26408	T	0.33	-5.4388	9.0019	0.36088	0.4604:0.0:0.5395:0.0	.	375	Q9NQV5	PRD11_HUMAN	T	375;375;341	ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T	ENSP00000263765:A375T	A	+	1	0	PRDM11	45202622	0.000000	0.05858	0.102000	0.21198	0.199000	0.23934	0.211000	0.17474	0.187000	0.20147	0.558000	0.71614	GCC		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		125	553	0	0	0	1	0	125	553					A	45246046	G	A	45246046	3	1	27	1	0	0	0	0	1	0	0	0	12499	1087	38	1	1149	1	PRDM11	11	45246046	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	38833039	45246046	89760470	62	3335											
SPRYD5	84767	broad.mit.edu	37	chr11	55655602	55655602	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcacttggaaaggcTgcgaaaggagggcgaggaca	15	8	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:55655602T>A	ENST00000449290.2	+	4	694	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	201						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTGGAAAGGCTGCGAAAGGAG	0.433																																						ENST00000449290.2																			0											c.(601-603)cTg>cAg		tripartite motif-containing 51							63	60	61					11																	55655602		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655602T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.602T>A	11.37:g.55655602T>A	ENSP00000395086:p.Leu201Gln					TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	p.L201Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			4	694	+			201					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.602T>A		.	.	.	.	.	.	.	.	.	.	.	10.17	1.277679	0.23307	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.10192	2.9;2.9	0.757	0.757	0.18427	.	.	.	.	.	T	0.35068	0.0919	M	0.93197	3.39	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09997	-1.0649	9	0.87932	D	0	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	201	Q9BSJ1	SPRY5_HUMAN	Q	201;58	ENSP00000395086:L201Q;ENSP00000244891:L58Q	ENSP00000244891:L58Q	L	+	2	0	SPRYD5	55412178	0.014000	0.17966	0.001000	0.08648	0.342000	0.28953	1.160000	0.31761	0.594000	0.29761	0.128000	0.15822	CTG		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		42	231	0	0	0	1	0	42	231					A	55655602	T	A	55655602	3	1	27	1	0	0	0	0	1	0	0	0	15163	1580	55	5	612	5	SPRYD5	11	55655602	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	10409556	55655602	79350914	63	3336											
TMX2	51075	broad.mit.edu	37	chr11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggcaaggaggcaatgCggcggccacagattgacaag	16	8	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125	114	118					11																	57506679		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp					TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	p.R231W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			7	703	+			231			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.691C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG		0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		6	547	0	0	0	1	0	6	547					T	57506679	C	T	57506679	3	4	27	1	0	0	0	0	1	0	0	0	16319	759	27	1	717	1	TMX2	11	57506679	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	1851077	57506679	77499837	64	3337											
CD6	923	broad.mit.edu	37	chr11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtggaggtacacttcCgaggggtctggaacacagtg	17	8	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(847-849)Cga>Tga		CD6 molecule							72	60	64					11																	60777109		2203	4299	6502	SO:0001587	stop_gained	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777109C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.847C>T	11.37:g.60777109C>T	ENSP00000323280:p.Arg283*					CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*	p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			5	1033	+			283			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Nonsense_Mutation	SNP	ENST00000313421.7	37	c.847C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312432	0.95655	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	.	.	.	4.76	4.76	0.60689	.	0.215583	0.30210	N	0.010146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3344	0.90282	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000323280:R283X	R	+	1	2	CD6	60533685	0.000000	0.05858	0.954000	0.39281	0.729000	0.41735	0.300000	0.19156	2.575000	0.86900	0.555000	0.69702	CGA		0.642	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		5	205	0	0	0	1	0	5	205					T	60777109	C	T	60777109	4	4	27	1	0	0	0	0	0	1	0	0	3037	644	23	1	865	1	CD6	11	60777109	Nonsense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	3270430	60777109	74229407	65	3338											
SLC22A11	55867	broad.mit.edu	37	chr11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accatcttcgccccaacattCgtcatctactgcggcctgcg	7	17	3	0	rs554874803		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000301891.4	+	3	953	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCCAACATTCGTCATCTACT	0.617											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(577-579)ttC>ttA		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						61	55	57					11																	64329557		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329557C>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.579C>A	11.37:g.64329557C>A	ENSP00000301891:p.Phe193Leu		OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L	p.F193L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			3	953	+			193					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.579C>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.419179	0.25552	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.58358	0.34;0.34;0.34	3.29	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058354	0.64402	N	0.000002	T	0.47303	0.1438	L	0.45422	1.42	0.09310	N	1	P;P;P	0.51933	0.949;0.484;0.861	P;B;B	0.49140	0.601;0.315;0.446	T	0.36817	-0.9732	10	0.45353	T	0.12	.	8.0924	0.30807	0.0:0.7887:0.0:0.2113	.	193;193;193	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	L	193	ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L	ENSP00000301891:F193L	F	+	3	2	SLC22A11	64086133	0.056000	0.20664	0.001000	0.08648	0.000000	0.00434	0.659000	0.24994	0.214000	0.20742	-1.547000	0.00903	TTC		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		56	228	1	0	5.73376e-24	1	6.25074e-24	56	228					A	64329557	C	A	64329557	3	1	27	1	0	0	0	0	1	0	0	0	14492	883	31	3	589	3	SLC22A11	11	64329557	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	3552448	64329557	70676959	66	3339											
CTTN	2017	broad.mit.edu	37	chr11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggggtgtgcaagggccGgtacgggctcttcccagcca	17	13	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000301843.8	+	18	1816	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000376561.3_Splice_Site_p.R500H|CTTN_ENST00000538675.1_Splice_Site_p.R221H	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	537	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627																																						ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1609-1611)cGg>cAg		cortactin							57	52	53					11																	70281225		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281225G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1610G>A	11.37:g.70281225G>A	ENSP00000301843:p.Arg537Gln					CTTN_ENST00000376561.3_Splice_Site_p.R500_splice|CTTN_ENST00000538675.1_Splice_Site_p.R221_splice|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q	p.R537Q	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1816	+			537			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1610G>A	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.205660|3.205660	0.58234|0.58234	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843	T;T;T|T;T	0.50813|0.50277	0.73;0.73;0.73|0.75;0.75	5.82|5.82	3.95|3.95	0.45737|0.45737	.|Src homology-3 domain (5);	1.245650|1.245650	0.05460|0.05460	N|N	0.551019|0.551019	T|T	0.42471|0.42471	0.1204|0.1204	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	0.999994|0.999994	D;D|P;P	0.89917|0.49961	1.0;0.977|0.754;0.93	D;P|B;B	0.87578|0.44108	0.998;0.616|0.319;0.441	T|T	0.28933|0.28933	-1.0028|-1.0028	10|10	0.11794|0.29301	T|T	0.64|0.29	-8.3826|-8.3826	11.1574|11.1574	0.48495|0.48495	0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285	.|.	221;500|500;537	B4E358;Q8N707|Q96H99;Q14247	.;.|.;SRC8_HUMAN	H|Q	500;221;194|500;537	ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q	ENSP00000365745:R500H|ENSP00000301843:R537Q	R|R	+|+	2|2	0|0	CTTN|CTTN	69958873|69958873	0.727000|0.727000	0.28069|0.28069	0.902000|0.902000	0.35471|0.35471	0.332000|0.332000	0.28634|0.28634	3.921000|3.921000	0.56454|0.56454	0.794000|0.794000	0.33899|0.33899	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.627	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		10	284	0	0	0	1	0	10	284					A	70281225	G	A	70281225	3	1	27	1	0	0	0	0	1	0	0	0	4055	1130	39	1	1672	1	CTTN	11	70281225	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5951668	70281225	64725291	67	3340											
UVRAG	7405	broad.mit.edu	37	chr11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttttcagcggcgtcttcGacatcttcggaacattgctg	9	10	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:75562938G>A	ENST00000356136.3	+	2	369	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGGCGTCTTCGACATCTTCGG	0.363																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(127-129)cGa>cAa		UV radiation resistance associated							120	123	122					11																	75562938		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75562938G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.128G>A	11.37:g.75562938G>A	ENSP00000348455:p.Arg43Gln					UVRAG_ENST00000528420.1_5'UTR	p.R43Q	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			2	369	+			43					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.128G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115643	0.94339	.	.	ENSG00000198382	ENST00000356136	T	0.62232	0.04	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73216	-0.4053	10	0.72032	D	0.01	-11.0214	17.6814	0.88245	0.0:0.0:1.0:0.0	.	43	Q9P2Y5	UVRAG_HUMAN	Q	43	ENSP00000348455:R43Q	ENSP00000348455:R43Q	R	+	2	0	UVRAG	75240586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	2.765000	0.95021	0.655000	0.94253	CGA		0.363	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		31	722	0	0	0	1	0	31	722					A	75562938	G	A	75562938	3	1	27	1	0	0	0	0	1	0	0	0	17162	1058	37	1	134	1	UVRAG	11	75562938	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5281713	75562938	59443578	68	3341											
OR10S1	219873	broad.mit.edu	37	chr11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggccctgggctgtgCggatgcgcaacacagctgcc	15	15	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R243H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.R243H(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(727-729)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1							46	47	47					11																	123847671		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847671C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.728G>A	11.37:g.123847671C>T	ENSP00000431914:p.Arg243His						p.R243H	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	817	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	243					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.728G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804634	0.02819	.	.	ENSG00000196248	ENST00000531945	T	0.39229	1.09	4.85	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000680	T	0.19406	0.0466	N	0.17838	0.53	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09729	-1.0661	10	0.20519	T	0.43	-8.8926	1.6508	0.02771	0.1318:0.368:0.1283:0.3719	.	243	Q8NGN2	O10S1_HUMAN	H	243	ENSP00000431914:R243H	ENSP00000431914:R243H	R	-	2	0	OR10S1	123352881	0.000000	0.05858	0.043000	0.18650	0.001000	0.01503	-2.583000	0.00904	0.028000	0.15324	-0.782000	0.03352	CGC		0.602	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		5	248	0	0	0	1	0	5	248					T	123847671	C	T	123847671	3	4	27	1	0	0	0	0	1	0	0	0	10960	768	27	1	271	1	OR10S1	11	123847671	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	48284733	123847671	11158845	69	3342											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		48	213	0	0	0	1	0	48	213					G	25398285	C	G	25398285	3	3	27	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		25398285	108453610	70	3343											
KRT78	196374	broad.mit.edu	37	chr12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctccagcagcctgCggtaagtggcaatctccaca	9	17	1	0	rs373055664		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000304620.4	-	7	1304	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(910-912)cGc>cAc		keratin 78		C	HIS/ARG	0,4406		0,0,2203	70	61	64		1241	3	1	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233575C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1241G>A	12.37:g.53233575C>T	ENSP00000306261:p.Arg414His					KRT78_ENST00000304620.4_Missense_Mutation_p.R414H	p.R304H			Q8N1N4	K2C78_HUMAN			7	922	-			414			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.911G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	KRT78	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC		0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	208	0	0	0	1	0	6	208					T	53233575	C	T	53233575	3	4	27	1	0	0	0	0	1	0	0	0	8521	768	27	1	333	1	KRT78	12	53233575	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	27835290	53233575	80618320	71	3344											
CRADD	8738	broad.mit.edu	37	chr12	94244044	94244044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgcacatgttggaGtgatggtgcctccagcaacc	11	13	0	1	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(595-597)gaG>gaA		CASP2 and RIPK1 domain containing adaptor with death domain		G		29,4333		0,29,2152	32	33	33		597	2.3	1	12	dbSNP_132	33	0,8552		0,0,4276	no	coding-synonymous	CRADD	NM_003805.3		0,29,6428	AA,AG,GG		0.0,0.6648,0.2246		199/200	94244044	29,12885	2181	4276	6457	SO:0001819	synonymous_variant	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94244044G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.597G>A	12.37:g.94244044G>A						CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron	p.E199E			P78560	CRADD_HUMAN			3	915	+			199					B7Z2Q5	Silent	SNP	ENST00000542893.2	37	c.597G>A	CCDS9048.1																																																																																				0.597	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		6	158	0	0	0	1	0	6	158					A	94244044	G	A	94244044	2	1	27	1	0	0	0	0	0	0	0	1	3854	1020	36	2		2	CRADD	12	94244044	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	41010469	94244044	39607851	72	3345											
BTBD11	121551	broad.mit.edu	37	chr12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctttgcagcgacactgtGagattatctgtgcgaaaagc	12	8	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGACACTGTGAGATTATCTG	0.463																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3043-3045)Gag>Aag		BTB (POZ) domain containing 11							108	101	103					12																	108045502		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108045502G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3043G>A	12.37:g.108045502G>A	ENSP00000280758:p.Glu1015Lys					BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K	p.E1015K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			16	3571	+			1015					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3043G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370428	0.95900	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.87758	2.905	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79108	0.982;0.992	D	0.88887	0.3343	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	552;1015	E9PHS4;A6QL63	.;BTBDB_HUMAN	K	1015;896;552;94	ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K	ENSP00000280758:E1015K	E	+	1	0	BTBD11	106569632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.258000	0.95555	2.535000	0.85469	0.655000	0.94253	GAG		0.463	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		5	157	0	0	0	1	0	5	157					A	108045502	G	A	108045502	3	1	27	1	0	0	0	0	1	0	0	0	1543	1291	45	2	3210	2	BTBD11	12	108045502	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	13801458	108045502	25806393	73	3346											
CIT	11113	broad.mit.edu	37	chr12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttcgctgagaattttgCccttctcatgggcctcctcc	8	14	2	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000261833.7	-	19	2322	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	CIT_ENST00000392521.2_Missense_Mutation_p.G799D|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	757					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGAATTTTGCCCTTCTCATG	0.468																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2395-2397)gGc>gAc		citron (rho-interacting, serine/threonine kinase 21)							227	207	214					12																	120198768		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120198768C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2270G>A	12.37:g.120198768C>T	ENSP00000261833:p.Gly757Asp					CIT_ENST00000261833.7_Missense_Mutation_p.G757D|CIT_ENST00000537607.1_5'UTR	p.G799D	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	20	2451	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	757					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2396G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115986|3.115986	0.56505|0.56505	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.0	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.238217	.|0.43110	.|D	.|0.000601	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.14661|0.14661	0.345|0.345	0.38369|0.38369	D|D	0.944814|0.944814	.|B;B;B	.|0.26845	.|0.03;0.03;0.161	.|B;B;B	.|0.23852	.|0.022;0.022;0.049	T|T	0.42816|0.42816	-0.9429|-0.9429	5|10	.|0.14252	.|T	.|0.57	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	.|799;757;290	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|D	385|799;757	.|ENSP00000376306:G799D;ENSP00000261833:G757D	.|ENSP00000261833:G757D	A|G	-|-	1|2	0|0	CIT|CIT	118683151|118683151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.928000|3.928000	0.56506|0.56506	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	525	0	0	0	1	0	7	525					T	120198768	C	T	120198768	3	4	27	1	0	0	0	0	1	0	0	0	3447	739	26	2	3929	2	CIT	12	120198768	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	12153266	120198768	13653127	74	3347											
CIT	11113	broad.mit.edu	37	chr12	120271946	120271946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaatcagctcagctagGtaaaactgtatcaggttttc	8	9	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120271946G>A	ENST00000261833.7	-	6	655	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CIT_ENST00000392521.2_Silent_p.Y201Y	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCAGCTAGGTAAAACTGTA	0.438																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(601-603)taC>taT		citron (rho-interacting, serine/threonine kinase 21)							129	111	117					12																	120271946		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120271946G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.603C>T	12.37:g.120271946G>A						CIT_ENST00000261833.7_Silent_p.Y201Y	p.Y201Y	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	6	658	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	201			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.603C>T	CCDS9192.1																																																																																				0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	276	0	0	0	1	0	5	276					A	120271946	G	A	120271946	2	1	27	1	0	0	0	0	0	0	0	1	3447	1256	44	2		2	CIT	12	120271946	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	73178	120271946	13579949	75	3348											
LPAR6	10161	broad.mit.edu	37	chr13	48986341	48986341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgttgtgaagtaaaaaatCctgaagggtaaagtaaaaac	10	4	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000378434.4	-	7	1843	c.219G>A	c.(217-219)agG>agA	p.R73R	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGTAAAAAATCCTGAAGGGTA	0.358																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(217-219)agG>agA		lysophosphatidic acid receptor 6							57	51	53					13																	48986341		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986341C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.219G>A	13.37:g.48986341C>T						RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R	p.R73R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	1843	-			73					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.219G>A	CCDS9410.1																																																																																				0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		40	140	0	0	0	1	0	40	140					T	48986341	C	T	48986341	2	4	27	1	0	0	0	0	0	0	0	1	8947	854	30	2		2	LPAR6	13	48986341	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		48986341	66183537	76	3349											
PCDH17	27253	broad.mit.edu	37	chr13	58208067	58208067	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcgttcgcgatcaagattCtagacgagaacgacaacccg	10	11	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:58208067C>G	ENST00000377918.3	+	1	1413	c.1387C>G	c.(1387-1389)Cta>Gta	p.L463V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCAAGATTCTAGACGAGAA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1387-1389)Cta>Gta		protocadherin 17							53	44	47					13																	58208067		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208067C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1387C>G	13.37:g.58208067C>G	ENSP00000367151:p.Leu463Val						p.L463V	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1413	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	463			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1387C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824594	0.50739	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	4.74	0.60224	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.45470	1.425	0.48452	D	0.999652	P;P	0.50819	0.925;0.939	P;P	0.57720	0.734;0.826	T	0.56637	-0.7946	9	.	.	.	.	10.6669	0.45736	0.0:0.854:0.0:0.146	.	463;463	O14917-2;O14917	.;PCD17_HUMAN	V	463	ENSP00000367151:L463V	.	L	+	1	2	PCDH17	57106068	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	2.537000	0.45702	1.378000	0.46305	0.561000	0.74099	CTA		0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	112	0	0	0	1	0	4	112					G	58208067	C	G	58208067	3	3	27	1	0	0	0	0	1	0	0	0	11554	912	32	5	1389	5	PCDH17	13	58208067	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	9221726	58208067	56961811	77	3350											
DOCK9	23348	broad.mit.edu	37	chr13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctgcatcttgagcTcaaaagcaaaacgcctgact	7	11	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTGAGCTCAAAAGCAAA	0.353																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(745-747)gAg>gGg		dedicator of cytokinesis 9							72	65	68					13																	99567729		1936	4149	6085	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99567729T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.746A>G	13.37:g.99567729T>C	ENSP00000365643:p.Glu249Gly					DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			8	826	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		250			PH.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.746A>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584483	0.86748	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.982;1.0	D	0.91171	0.4968	9	.	.	.	.	14.4179	0.67163	0.0:0.0:0.0:1.0	.	250;249;249;249;250	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	G	249;250;250;250;249;250;261;249	ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G	.	E	-	2	0	DOCK9	98365730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.824000	0.53156	0.533000	0.62120	GAG		0.353	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		5	106	0	0	0	1	0	5	106					C	99567729	T	C	99567729	3	2	27	1	0	0	0	0	1	0	0	0	4710	1551	54	4	5717	4	DOCK9	13	99567729	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	41359662	99567729	15602149	78	3351											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	8	257						8	257	---	---	---	---	A	75601712	-	A	75601711	8	5	27	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08		75601711	31747829	79	3352											
ATP10A	57194	broad.mit.edu	37	chr15	25940081	25940081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgcttggcaaggaagagGaatttgtcctccaggttttt	11	8	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAGGAAGAGGAATTTGTCCT	0.617																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2971-2973)ttC>ttT		ATPase, class V, type 10A							90	88	88					15																	25940081		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940081G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2973C>T	15.37:g.25940081G>A							p.F991F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3084	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	991					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2973C>T	CCDS32178.1																																																																																				0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		38	201	0	0	0	1	0	38	201					A	25940081	G	A	25940081	2	1	27	1	0	0	0	0	0	0	0	1	1117	1165	41	2		2	ATP10A	15	25940081	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		25940081	76591311	80	3353											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		10	381						10	381	---	---	---	---	T	41029894	-	T	41029893	7	5	27	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-3A-A9IC-01A-11D-A38G-08	15089812	41029893	61501499	81	3354											
TPSD1	23430	broad.mit.edu	37	chr16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggaccagctgctgccgGtcagcaggatcatcgtgcac	12	14	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(331-333)Gtc>Atc		tryptase delta 1							61	63	62					16																	1306874		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306874G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.331G>A	16.37:g.1306874G>A	ENSP00000211076:p.Val111Ile					TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	p.V111I	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			3	479	+		Hepatocellular(780;0.00369)	111			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.331G>A	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259525	0.23051	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84298	-1.83;-1.83	2.55	-2.96	0.05547	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.262880	0.05827	N	0.616806	T	0.79822	0.4512	L	0.55990	1.75	0.09310	N	1	B;B	0.20459	0.008;0.045	B;B	0.26614	0.071;0.071	T	0.62530	-0.6835	10	0.44086	T	0.13	.	4.467	0.11694	0.3246:0.1675:0.508:0.0	.	95;111	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	I	104;111	ENSP00000380668:V104I;ENSP00000211076:V111I	ENSP00000211076:V111I	V	+	1	0	TPSD1	1246875	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.596000	0.02091	-0.864000	0.04078	0.185000	0.17295	GTC		0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			50	165	0	0	0	1	0	50	165					A	1306874	G	A	1306874	3	1	27	1	0	0	0	0	1	0	0	0	16478	1261	44	2	341	2	TPSD1	16	1306874	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1306874	89047879	82	3355											
ADCY9	115	broad.mit.edu	37	chr16	4016559	4016559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcttgcttaggagctcGtcaaagtccccgatgagctc	11	13	1	1	rs551214944		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:4016559G>A	ENST00000294016.3	-	11	3817	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTAGGAGCTCGTCAAAGTCCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19311	0.001		0.0	False		,,,				2504	0.0					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3277-3279)gaC>gaT		adenylate cyclase 9							99	97	98					16																	4016559		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016559G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3279C>T	16.37:g.4016559G>A							p.D1093D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3817	-			1093			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3279C>T	CCDS32382.1																																																																																				0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	639	0	0	0	1	0	6	639					A	4016559	G	A	4016559	2	1	27	1	0	0	0	0	0	0	0	1	301	1136	40	1		1	ADCY9	16	4016559	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	2709685	4016559	86338194	83	3356											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	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.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	207						9	207	---	---	---	---	-	29994533	GAG	-	29994531	7	5	27	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-3A-A9IC-01A-11D-A38G-08	25977972	29994531	60360222	84	3357											
SLC6A2	6530	broad.mit.edu	37	chr16	55730216	55730216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgggctgttgtgtttttCgtcatgctcctggcgctggg	14	9	2	0	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1225-1227)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), 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)	C	,,,	2,4394	4.2+/-10.8	0,2,2196	258	214	229		1227,1227,912,1227	4.4	1	16	dbSNP_134	229	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	,,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,,	409/618,409/618,304/513,409/629	55730216	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730216C>T		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.1227C>T	16.37:g.55730216C>T						SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F	p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1482	+			409					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1227C>T	CCDS10754.1																																																																																				0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			130	528	0	0	0	1	0	130	528					T	55730216	C	T	55730216	2	4	27	1	0	0	0	0	0	0	0	1	14733	883	31	1		1	SLC6A2	16	55730216	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	25735685	55730216	34624537	85	3358											
SLC13A5	284111	broad.mit.edu	37	chr17	6599137	6599137	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaccagcaggaagaagcaGatcagcacgttgatctccgc	11	11	2	4			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000293800.6_Silent_p.I304I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	321					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(961-963)atC>atA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							143	142	142					17																	6599137		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599137G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.963C>A	17.37:g.6599137G>T						SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I	p.I321I	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			7	1196	-			321					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.963C>A	CCDS11079.1																																																																																				0.587	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		11	574	1	0	0.000978159	1	0.00100849	11	574					T	6599137	G	T	6599137	2	4	27	1	0	0	0	0	0	0	0	1	14445	932	33	3		3	SLC13A5	17	6599137	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		6599137	74596073	86	3359											
TP53	7157	broad.mit.edu	37	chr17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-													gggcaactgaccgtgcaagtCacagacttggctgtcccaga					rs587780067		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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)	ENST00000420246.2		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"		23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(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	GRCh37	CM065494	TP53	M		c.(364-366)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579321_7579322delCA	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs	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_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs	p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	497_498	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.365_366delTG	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	302						66	302	---	---	---	---	-	7579322	CA	-	7579321	7	5	27	1	0	1	0	1	0	0	0	0	16434	813	29	0	936	0	TP53	17	7579321	Frame_Shift_Del	DEL	CA	TCGA-3A-A9IC-01A-11D-A38G-08	980184	7579321	73615889	87	3360											
KCNH6	81033	broad.mit.edu	37	chr17	61611489	61611489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactgtggtggatctcatCgtggacatcatgttcgtcgt	11	10	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000456941.2_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000581784.1_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGATCTCATCGTGGACATCA	0.597																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(916-918)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						227	194	205					17																	61611489		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611489C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.918C>T	17.37:g.61611489C>T						KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	929	+			306					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.918C>T	CCDS11638.1																																																																																				0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		114	455	0	0	0	1	0	114	455					T	61611489	C	T	61611489	2	4	27	1	0	0	0	0	0	0	0	1	8066	874	31	1		1	KCNH6	17	61611489	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	54032168	61611489	19583721	88	3361											
BPTF	2186	broad.mit.edu	37	chr17	65862768	65862768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctgaccaataaggctcGgggcagtaacaaatcctttc	9	11	0	2	rs200596839		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:65862768G>A	ENST00000321892.4	+	3	1686	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	542					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATAAGGCTCGGGGCAGTAAC	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1624-1626)cGg>cAg		bromodomain PHD finger transcription factor							76	80	79					17																	65862768		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862768G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1625G>A	17.37:g.65862768G>A	ENSP00000315454:p.Arg542Gln					BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q	p.R542Q			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1686	+	all_cancers(12;6e-11)		542					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1625G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.667001	0.88251	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.71698	-0.48;-0.59;-0.56	5.84	5.84	0.93424	.	.	.	.	.	D	0.82674	0.5088	L	0.54323	1.7	0.80722	D	1	D;P;D	0.89917	1.0;0.943;1.0	D;P;D	0.85130	0.992;0.584;0.997	T	0.82866	-0.0245	9	0.72032	D	0.01	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	542;542;542	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Q	447;542;542;542;403	ENSP00000307208:R542Q;ENSP00000334351:R542Q;ENSP00000315454:R542Q	ENSP00000307208:R542Q	R	+	2	0	BPTF	63293230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.760000	0.94817	0.655000	0.94253	CGG		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	267	0	0	0	1	0	4	267					A	65862768	G	A	65862768	3	1	27	1	0	0	0	0	1	0	0	0	1499	1116	39	1	1635	1	BPTF	17	65862768	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	4251279	65862768	15332442	89	3362											
PTPRM	5797	broad.mit.edu	37	chr18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcgactttggccggaCttttgctaactgcggcgggc	15	12	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTGGCCGGACTTTTGCTAAC	0.756																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(40-42)Ctt>Att		protein tyrosine phosphatase, receptor type, M							56	55	55					18																	7567856		2203	4299	6502	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7567856C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.40C>A	18.37:g.7567856C>A	ENSP00000331418:p.Leu14Ile					PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			1	1077	+		Colorectal(10;0.234)	14					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.40C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342799	0.61073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.38401	1.14;1.14	3.47	3.47	0.39725	.	0.288191	0.23920	N	0.043243	T	0.28267	0.0698	L	0.39898	1.24	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.13407	0.009;0.009	T	0.06972	-1.0797	10	0.15952	T	0.53	.	14.55	0.68059	0.0:1.0:0.0:0.0	.	14;14	A7MBN1;P28827	.;PTPRM_HUMAN	I	14	ENSP00000331418:L14I;ENSP00000382933:L14I	ENSP00000331418:L14I	L	+	1	0	PTPRM	7557856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.495000	0.35627	1.498000	0.48600	0.305000	0.20034	CTT		0.756	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			37	227	1	0	1.96642e-18	1	2.12629e-18	37	227					A	7567856	C	A	7567856	3	1	27	1	0	0	0	0	1	0	0	0	12856	565	20	3	42	3	PTPRM	18	7567856	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		7567856	70509392	90	3363											
AQP4	361	broad.mit.edu	37	chr18	24436280	24436280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttttagaatcaggtcatcCgtctctacctgactcctgtt	8	11	3	2	rs371116956		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4_ENST00000440832.3_Silent_p.T267T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.T289T(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCAGGTCATCCGTCTCTACCT	0.478																																						ENST00000383168.4																			1	Substitution - coding silent(1)	p.T289T(1)	lung(1)	kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(865-867)acG>acA		aquaporin 4		C	,	1,4405	2.1+/-5.4	0,1,2202	360	295	317		867,801	-11.5	0	18		317	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AQP4	NM_001650.4,NM_004028.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	289/324,267/302	24436280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436280C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.867G>A	18.37:g.24436280C>T						AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR	p.T289T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	995	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		289					P78564	Silent	SNP	ENST00000383168.4	37	c.867G>A	CCDS11889.1																																																																																				0.478	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		19	1010	0	0	0	1	0	19	1010					T	24436280	C	T	24436280	2	4	27	1	0	0	0	0	0	0	0	1	828	639	23	1		1	AQP4	18	24436280	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	16868424	24436280	53640968	91	3364											
ZNF558	148156	broad.mit.edu	37	chr19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcgtgacattcataagGtttctcccctgtatgaatgc	7	10	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(871-873)Cct>Tct		zinc finger protein 558							125	119	121					19																	8922295		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922295G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.871C>T	19.37:g.8922295G>A	ENSP00000471277:p.Pro291Ser					ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S	p.P291S			Q96NG5	ZN558_HUMAN			10	1582	-			291					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.871C>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458995	0.84317	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16743	2.32;2.32	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000595	T	0.38532	0.1044	L	0.60904	1.88	0.47214	D	0.999359	D	0.89917	1.0	D	0.72338	0.977	T	0.09487	-1.0672	10	0.87932	D	0	-15.4151	15.9729	0.80034	0.0:0.0:1.0:0.0	.	291	Q96NG5	ZN558_HUMAN	S	291;220	ENSP00000301475:P291S;ENSP00000410703:P220S	ENSP00000301475:P291S	P	-	1	0	ZNF558	8783295	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	8.818000	0.91991	2.636000	0.89361	0.591000	0.81541	CCT		0.448	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		11	516	0	0	0	1	0	11	516					A	8922295	G	A	8922295	3	1	27	1	0	0	0	0	1	0	0	0	18042	1261	44	2	341	2	ZNF558	19	8922295	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		8922295	50206688	92	3365											
MUC16	94025	broad.mit.edu	37	chr19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccctcagagctgctgGtctttctcagtccaagggtc	11	13	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	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)				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						AGAGCTGCTGGTCTTTCTCAG	0.527																																						ENST00000397910.4																			0				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						c.(24376-24378)aCc>aTc		mucin 16, cell surface associated							129	125	126					19																	9063069		2006	4173	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063069G>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.24377C>T	19.37:g.9063069G>A	ENSP00000381008:p.Thr8126Ile						p.T8126I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24580	-			8128			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24377C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227444	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.09	2.02	0.26589	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	.	.	.	P	0.36837	0.571	B	0.37047	0.24	T	0.28073	-1.0055	8	0.87932	D	0	.	7.2133	0.25945	0.0:0.0:0.7105:0.2894	.	8126	B5ME49	.	I	8126	ENSP00000381008:T8126I	ENSP00000381008:T8126I	T	-	2	0	MUC16	8924069	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.336000	0.07863	0.827000	0.34685	0.508000	0.49915	ACC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		75	322	0	0	0	1	0	75	322					A	9063069	G	A	9063069	3	1	27	1	0	0	0	0	1	0	0	0	10014	1261	44	2	19474	2	MUC16	19	9063069	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	140774	9063069	50065914	93	3366											
OR7D4	125958	broad.mit.edu	37	chr19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgaggcaccccatgtagGagatgtctttgctccgtgcc	13	11	1	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(277-279)tCc>tTc		olfactory receptor, family 7, subfamily D, member 4							82	73	76					19																	9325236		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325236G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.278C>T	19.37:g.9325236G>A	ENSP00000310488:p.Ser93Phe						p.S93F	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	306	-			93					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.278C>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350572	0.24512	.	.	ENSG00000174667	ENST00000308682	T	0.00745	5.75	3.86	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.344022	0.25397	N	0.030975	T	0.04003	0.0112	M	0.94142	3.5	0.09310	N	1	P	0.52316	0.952	P	0.55667	0.781	T	0.07158	-1.0787	10	0.87932	D	0	.	8.2914	0.31960	0.0976:0.1631:0.7393:0.0	.	93	Q8NG98	OR7D4_HUMAN	F	93	ENSP00000310488:S93F	ENSP00000310488:S93F	S	-	2	0	OR7D4	9186236	0.075000	0.21258	0.020000	0.16555	0.086000	0.17979	2.488000	0.45276	0.951000	0.37770	0.436000	0.28706	TCC		0.488	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			68	255	0	0	0	1	0	68	255					A	9325236	G	A	9325236	3	1	27	1	0	0	0	0	1	0	0	0	11262	1174	41	2	664	2	OR7D4	19	9325236	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	262167	9325236	49803747	94	3367											
ZNF507	22847	broad.mit.edu	37	chr19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaaattctgagtctcttCgattacactcattagctgca	7	10	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1471-1473)Cga>Tga		zinc finger protein 507							57	60	59					19																	32845207		2203	4300	6503	SO:0001587	stop_gained	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845207C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	19.37:g.32845207C>T	ENSP00000312277:p.Arg491*					ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*	p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1663	+	Esophageal squamous(110;0.162)		491					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	ENST00000311921.4	37	c.1471C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	ZNF507	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA		0.463	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		112	349	0	0	0	1	0	112	349					T	32845207	C	T	32845207	4	4	27	1	0	0	0	0	0	1	0	0	18006	876	31	1	1473	1	ZNF507	19	32845207	Nonsense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	23519971	32845207	26283776	95	3368											
ZNF302	55900	broad.mit.edu	37	chr19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctcatcacttactaacCatcagagcactcacacggga	7	13	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000446502.2	+	6	1163	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTACTAACCATCAGAGCAC	0.428																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(823-825)Cat>Tat		zinc finger protein 302							93	91	92					19																	35175765		2203	4300	6503	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175765C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.955C>T	19.37:g.35175765C>T	ENSP00000396379:p.His319Tyr					ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000446502.2_Missense_Mutation_p.H319Y|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR	p.H275Y			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1317	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		354					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866730	0.32977	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.967	0.967	0.19674	.	.	.	.	.	D	0.94918	0.8357	H	0.97214	3.96	0.09310	N	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.973;0.999	D	0.85181	0.1004	9	0.87932	D	0	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	319;275	E7EVR1;Q9NR11-2	.;.	Y	275;275;275;319	ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y	ENSP00000405219:H275Y	H	+	1	0	ZNF302	39867605	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.528000	0.73807	0.822000	0.34565	0.467000	0.42956	CAT		0.428	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			142	388	0	0	0	1	0	142	388					T	35175765	C	T	35175765	3	4	27	1	0	0	0	0	1	0	0	0	17885	594	21	2	837	2	ZNF302	19	35175765	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	2330558	35175765	23953218	96	3369											
ZNF181	339318	broad.mit.edu	37	chr19	35232753	35232753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccttaTgaatgtattaaatgtgggaa	10	4	0	2	rs201356205	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35232753T>C	ENST00000492450.1	+	4	1556	c.1467T>C	c.(1465-1467)taT>taC	p.Y489Y	ZNF181_ENST00000392232.3_Silent_p.Y533Y|ZNF181_ENST00000459757.2_Silent_p.Y488Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													t|||	10	0.00199681	0.0	0.0	5008	,	,		21281	0.005		0.0	False		,,,				2504	0.0051					ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1597-1599)taT>taC		zinc finger protein 181							54	57	56					19																	35232753		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232753T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1467T>C	19.37:g.35232753T>C						ZNF181_ENST00000492450.1_Silent_p.Y489Y|ZNF181_ENST00000459757.1_Silent_p.Y488Y	p.Y533Y			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1767	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		489					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1599T>C	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		9	566	0	0	0	1	0	9	566					C	35232753	T	C	35232753	2	2	27	1	0	0	0	0	0	0	0	1	17802	1471	51	4		4	ZNF181	19	35232753	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	56988	35232753	23896230	97	3370											
ZNF382	84911	broad.mit.edu	37	chr19	37117303	37117303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgacagtactggatgggaGaaatcactcctcaataccaa	10	9	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000292928.2	+	5	617	c.504G>A	c.(502-504)gaG>gaA	p.E168E	ZNF382_ENST00000423582.1_Silent_p.E119E|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000435416.1_Silent_p.E167E	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription. {ECO:0000250}.		E -> G (in dbSNP:rs3108171). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGATGGGAGAAATCACTCC	0.358																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(499-501)gaG>gaA		zinc finger protein 382							104	112	109					19																	37117303		2201	4300	6501	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117303G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.504G>A	19.37:g.37117303G>A						ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000423582.1_Silent_p.E119E|ZNF382_ENST00000439428.1_Silent_p.E167E	p.E167E			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1996	+	Esophageal squamous(110;0.198)		168			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.501G>A	CCDS33004.1																																																																																				0.358	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		26	1270	0	0	0	1	0	26	1270					A	37117303	G	A	37117303	2	1	27	1	0	0	0	0	0	0	0	1	17926	933	33	2		2	ZNF382	19	37117303	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	1884550	37117303	22011680	98	3371											
ZNF552	79818	broad.mit.edu	37	chr19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-													agtgaagagatttgcctaaaTtttttttcacattcactgca							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147	143	144			2	0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	757						7	757	---	---	---	---	-	58319468	T	-	58319468	7	5	27	1	0	1	0	1	0	0	0	0	18037	1490	52	0	63	0	ZNF552	19	58319468	Frame_Shift_Del	DEL	T	TCGA-3A-A9IC-01A-11D-A38G-08	21202165	58319468	809515	99	3372											
ZNF814	730051	broad.mit.edu	37	chr19	58384887	58384887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctccagtgtgcatgCgctgatggtgaacaaggctg	13	9	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58384887C>T	ENST00000435989.2	-	3	2105	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGTGTGCATGCGCTGATGGTG	0.458																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1870-1872)cGc>cAc		zinc finger protein 814							75	60	65					19																	58384887		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384887C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1871G>A	19.37:g.58384887C>T	ENSP00000410545:p.Arg624His					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	p.R624H	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2105	-			624					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1871G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.486961	0.26686	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.25749	1.78	2.04	-3.61	0.04556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	P	0.50440	0.641	T	0.21724	-1.0237	9	0.87932	D	0	.	3.8089	0.08789	0.0:0.3929:0.1863:0.4208	.	624	B7Z6K7	ZN814_HUMAN	H	624;374	ENSP00000410545:R624H	ENSP00000365378:R374H	R	-	2	0	ZNF814	63076699	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.574000	0.02133	-0.904000	0.03876	0.305000	0.20034	CGC		0.458	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		61	261	0	0	0	1	0	61	261					T	58384887	C	T	58384887	3	4	27	1	0	0	0	0	1	0	0	0	18229	768	27	1	700	1	ZNF814	19	58384887	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	65419	58384887	744096	100	3373											
ZNF343	79175	broad.mit.edu	37	chr20	2464701	2464701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctaaaacctcgcccGcactcactgcacacataagg	7	15	2	0	rs149460018		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr20:2464701G>A	ENST00000278772.4	-	6	1393	c.906C>T	c.(904-906)tgC>tgT	p.C302C	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AACCTCGCCCGCACTCACTGC	0.473																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(904-906)tgC>tgT		zinc finger protein 343		G		2,4404	6.2+/-15.9	0,2,2201	77	66	70		906	-1.7	0	20	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	ZNF343	NM_024325.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		302/600	2464701	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464701G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.906C>T	20.37:g.2464701G>A						RP4-734P14.4_ENST00000461548.1_Intron	p.C302C	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1393	-			302					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.906C>T	CCDS13028.1																																																																																				0.473	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		5	278	0	0	0	1	0	5	278					A	2464701	G	A	2464701	2	1	27	1	0	0	0	0	0	0	0	1	17911	1079	38	1		1	ZNF343	20	2464701	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		2464701	60560819	101	3374											
BACE2	25825	broad.mit.edu	37	chr21	42647459	42647461	+	In_Frame_Del	DEL	CTG	CTG	-													tcctccttgtcttaatcgtcCtgctgctgctgccgttccgg							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr21:42647459_42647461delCTG	ENST00000330333.6	+	9	1928_1930	c.1465_1467delCTG	c.(1465-1467)ctgdel	p.L492del	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_In_Frame_Del_p.L442del|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	492					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTTAATCGTCCTGCTGCTGCTGC	0.567																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1465-1467)del		beta-site APP-cleaving enzyme 2																																				SO:0001651	inframe_deletion	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647459_42647461delCTG	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1465_1467delCTG	21.37:g.42647468_42647470delCTG	ENSP00000332979:p.Leu492del					BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.4_In_Frame_Del_p.L442del	p.L492del	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			9	1928_1930	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	492					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	In_Frame_Del	DEL	ENST00000330333.6	37	c.1465_1467delCTG	CCDS13668.1																																																																																				0.567	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			7	292						7	292	---	---	---	---	-	42647461	CTG	-	42647459	7	5	27	1	0	1	0	1	0	0	0	0	1283	680	24	0	1499	0	BACE2	21	42647459	In_Frame_Del	DEL	CTG	TCGA-3A-A9IC-01A-11D-A38G-08		42647459	5482436	102	3375											
ARSF	416	broad.mit.edu	37	chrX	3002668	3002668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catgaaggctgaacgagctgGatccattatggtgaaggaag	14	6	0	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000537104.1_Missense_Mutation_p.G264V|ARSF_ENST00000359361.2_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACGAGCTGGATCCATTATG	0.448																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(790-792)gGa>gTa		arylsulfatase F							58	51	53					X																	3002668		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002668G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.791G>T	X.37:g.3002668G>T	ENSP00000370519:p.Gly264Val					ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	1012	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	264					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.791G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075973	0.08485	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98474	-4.95;-4.95;-4.95	2.99	2.99	0.34606	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279575	0.32987	U	0.005404	D	0.95401	0.8507	N	0.11870	0.19	0.09310	N	1	B	0.22851	0.076	B	0.40329	0.326	D	0.91487	0.5209	10	0.62326	D	0.03	.	9.713	0.40256	0.0:0.4614:0.5386:0.0	.	264	P54793	ARSF_HUMAN	V	264	ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V	ENSP00000352319:G264V	G	+	2	0	ARSF	3012668	0.001000	0.12720	0.292000	0.24919	0.582000	0.36321	0.559000	0.23485	1.099000	0.41499	0.534000	0.68092	GGA		0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			44	251	1	0	7.62715e-32	1	8.38356e-32	44	251					T	3002668	G	T	3002668	3	4	27	1	0	0	0	0	1	0	0	0	992	1174	41	3	809	3	ARSF	23	3002668	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		3002668	152267892	103	3376											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377	317	337					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		10	1568	0	0	0	1	0	10	1568					T	17770059	C	T	17770059	2	4	27	1	0	0	0	0	0	0	0	1	13959	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	14767391	17770059	137500501	104	3377											
DMD	1756	broad.mit.edu	37	chrX	32503058	32503058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtagctctttctctctGgcctgcacatcagaaaagac	8	12	5	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTCTGGCCTGCACAT	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2779-2781)gcC>gcT		dystrophin							120	103	108					X																	32503058		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32503058G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2781C>T	X.37:g.32503058G>A						DMD_ENST00000378677.2_Silent_p.A923A	p.A927A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			21	2987	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	927					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2781C>T	CCDS14233.1																																																																																				0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		44	211	0	0	0	1	0	44	211					A	32503058	G	A	32503058	2	1	27	1	0	0	0	0	0	0	0	1	4596	1335	47	2		2	DMD	23	32503058	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	14732999	32503058	122767502	105	3378											
ALAS2	212	broad.mit.edu	37	chrX	55042077	55042077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaatcccagcgccccGggacccatacagtcctacag	7	20	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000330807.5	-	8	1239	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1102-1104)Cgg>Tgg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						83	70	74					X																	55042077		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042077G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1102C>T	X.37:g.55042077G>A	ENSP00000332369:p.Arg368Trp					ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	p.R368W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1239	-			368					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1102C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293539	0.60086	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95238	-3.65;-3.65;-3.65	5.75	2.8	0.32819	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.169618	0.52532	D	0.000065	D	0.97561	0.9201	H	0.94658	3.565	0.32571	N	0.529787	D;D;D	0.76494	0.994;0.999;0.999	P;D;P	0.64144	0.875;0.922;0.875	D	0.98784	1.0733	10	0.87932	D	0	-12.041	13.6877	0.62526	0.0:0.0:0.6071:0.3929	.	331;355;368	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	W	368;355;331	ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W	ENSP00000332369:R368W	R	-	1	2	ALAS2	55058802	0.446000	0.25665	0.975000	0.42487	0.674000	0.39518	2.674000	0.46867	0.654000	0.30846	0.594000	0.82650	CGG		0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		10	275	0	0	0	1	0	10	275					A	55042077	G	A	55042077	3	1	27	1	0	0	0	0	1	0	0	0	485	1115	39	1	677	1	ALAS2	23	55042077	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	22539019	55042077	100228483	106	3379											
TCEAL2	140597	broad.mit.edu	37	chrX	101382205	101382205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctgaggatgatataCccaggaaagccaaaagaaaa	10	9	0	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(403-405)Ccc>Tcc		transcription elongation factor A (SII)-like 2							104	103	103					X																	101382205		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382205C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.403C>T	X.37:g.101382205C>T	ENSP00000361866:p.Pro135Ser					TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	622	+			135					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.403C>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461939	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.09445	2.98;2.98	3.43	2.57	0.30868	.	0.000000	0.47093	D	0.000250	T	0.26448	0.0646	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02581	-1.1138	10	0.62326	D	0.03	.	5.8361	0.18607	0.0:0.8506:0.0:0.1494	.	135	Q9H3H9	TCAL2_HUMAN	S	135	ENSP00000361866:P135S;ENSP00000332359:P135S	ENSP00000332359:P135S	P	+	1	0	TCEAL2	101268861	0.637000	0.27216	0.037000	0.18230	0.992000	0.81027	1.350000	0.34010	0.824000	0.34613	0.594000	0.82650	CCC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		97	483	0	0	0	1	0	97	483					T	101382205	C	T	101382205	3	4	27	1	0	0	0	0	1	0	0	0	15723	507	18	2	405	2	TCEAL2	23	101382205	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	46340128	101382205	53888355	107	3380											
RNF128	79589	broad.mit.edu	37	chrX	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-													aaccaggagaataggtccagTtttttttggctccttgtaat							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70	74	72					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		9	375						9	375	---	---	---	---	-	105937256	T	-	105937256	7	5	27	1	0	1	0	1	0	0	0	0	13486	1722	60	0	26	0	RNF128	23	105937256	Frame_Shift_Del	DEL	T	TCGA-3A-A9IC-01A-11D-A38G-08	4555051	105937256	49333304	108	3381											
CXorf56	63932	broad.mit.edu	37	chrX	118678401	118678405	+	Frame_Shift_Del	DEL	AAGGT	AAGGT	-													ctactgctccatccacaatgAaggtaacaggagcattcttt							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:118678401_118678405delAAGGT	ENST00000371594.4	-	4	412_416	c.334_338delACCTT	c.(334-339)accttcfs	p.TF112fs	CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	112										cervix(1)|endometrium(2)|lung(7)	10						ATCCACAATGAAGGTAACAGGAGCA	0.444																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(187-192)cfs		chromosome X open reading frame 56																																				SO:0001589	frameshift_variant	63932						protein binding	g.chrX:118678401_118678405delAAGGT	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.334_338delACCTT	X.37:g.118678401_118678405delAAGGT	ENSP00000360652:p.Thr112fs					CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000371594.4_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000476164.1_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000486230.1_Frame_Shift_Del_p.TF112fs	p.TF63fs	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			4	458_462	-			112					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Frame_Shift_Del	DEL	ENST00000371594.4	37	c.187_191delACCTT	CCDS14579.1																																																																																				0.444	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		19	850						19	850	---	---	---	---	-	118678405	AAGGT	-	118678401	7	5	27	1	0	1	0	1	0	0	0	0	4123	246	9	0	346	0	CXorf56	23	118678401	Frame_Shift_Del	DEL	AAGGT	TCGA-3A-A9IC-01A-11D-A38G-08	12741145	118678401	36592159	109	3382											
MAGEA3	4102	broad.mit.edu	37	chrX	151935782	151935782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctgcctttgtgaccgGctccctggctcgatacttga	9	13	1	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:151935782G>A	ENST00000393902.3	-	3	952	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGACCGGCTCCCTGGCT	0.522																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(385-387)Ccg>Tcg		melanoma antigen family A, 3							131	123	126					X																	151935782		2203	4292	6495	SO:0001583	missense	4102							g.chrX:151935782G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.385C>T	X.37:g.151935782G>A	ENSP00000377480:p.Pro129Ser					MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S	p.P129S			P43357	MAGA3_HUMAN			3	952	-	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.385C>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.352511	0.24512	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06449	3.3;3.3;3.3	1.42	0.339	0.15979	.	0.601897	0.18231	N	0.147574	T	0.14570	0.0352	M	0.80508	2.5	0.09310	N	1	P	0.50272	0.933	P	0.54856	0.762	T	0.06338	-1.0832	10	0.59425	D	0.04	.	4.1473	0.10222	0.0:0.0:0.5984:0.4016	.	129	P43357	MAGA3_HUMAN	S	129	ENSP00000359301:P129S;ENSP00000377480:P129S;ENSP00000392758:P129S	ENSP00000359301:P129S	P	-	1	0	MAGEA3	151686438	0.026000	0.19158	0.001000	0.08648	0.009000	0.06853	1.948000	0.40303	0.043000	0.15746	0.358000	0.22013	CCG		0.522	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		8	1220	0	0	0	1	0	8	1220					A	151935782	G	A	151935782	3	1	27	1	0	0	0	0	1	0	0	0	9206	1203	42	2	563	2	MAGEA3	23	151935782	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	33257381	151935782	3334778	110	3383											
CELA2B	51032	broad.mit.edu	37	chr1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctcagttgtggggTctccacttacgcgcctgata	10	14	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:15802967T>A	ENST00000375910.3	+	2	81	c.56T>A	c.(55-57)gTc>gAc	p.V19D	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	19						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTTGTGGGGTCTCCACTTAC	0.527																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(55-57)gTc>gAc		chymotrypsin-like elastase family, member 2B							120	115	117					1																	15802967		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802967T>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.56T>A	1.37:g.15802967T>A	ENSP00000365075:p.Val19Asp					CELA2B_ENST00000494280.1_3'UTR	p.V19D	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			2	81	+			19					Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.56T>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	1.790	-0.479829	0.04383	.	.	ENSG00000215704	ENST00000375910;ENST00000422901	D;D	0.93426	-3.22;-2.95	4.39	0.376	0.16193	Peptidase cysteine/serine, trypsin-like (1);	0.501238	0.15453	U	0.261580	D	0.85932	0.5812	L	0.43598	1.365	0.25250	N	0.989686	B	0.06786	0.001	B	0.10450	0.005	T	0.68534	-0.5383	10	0.13108	T	0.6	.	3.3034	0.06990	0.3747:0.1066:0.0:0.5187	.	19	P08218	CEL2B_HUMAN	D	19;3	ENSP00000365075:V19D;ENSP00000399811:V3D	ENSP00000365075:V19D	V	+	2	0	CELA2B	15675554	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-0.078000	0.11375	-0.221000	0.09973	0.172000	0.16884	GTC		0.527	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		10	503	0	0	0	1	0	10	503					A	15802967	T	A	15802967	3	1	28	1	0	0	0	0	1	0	0	0	3221	1667	58	5	62	5	CELA2B	1	15802967	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08		15802967	233447654	1	3384											
RSC1A1	6248	broad.mit.edu	37	chr1	15988099	15988099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgccacagatattgaccGcattctccgtgctggcttta	8	13	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:15988099G>A	ENST00000345034.1	+	1	1736	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATATTGACCGCATTCTCCGT	0.473																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1735-1737)cGc>cAc		regulatory solute carrier protein, family 1, member 1							220	202	208					1																	15988099		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988099G>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1736G>A	1.37:g.15988099G>A	ENSP00000341963:p.Arg579His					DDI2_ENST00000480945.1_3'UTR	p.R579H	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1736	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	579			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1736G>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254518	0.80135	.	.	ENSG00000215695	ENST00000345034	T	0.57107	0.42	5.96	5.96	0.96718	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.56920	0.2018	N	0.08118	0	0.42195	D	0.991743	D	0.89917	1.0	D	0.91635	0.999	T	0.66524	-0.5902	10	0.87932	D	0	-44.9555	19.0	0.92829	0.0:0.0:1.0:0.0	.	579	Q92681	RSCA1_HUMAN	H	579	ENSP00000341963:R579H	ENSP00000341963:R579H	R	+	2	0	RSC1A1	15860686	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.053000	0.57427	2.832000	0.97577	0.655000	0.94253	CGC		0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		5	736	0	0	0	1	0	5	736					A	15988099	G	A	15988099	3	1	28	1	0	0	0	0	1	0	0	0	13748	1087	38	1	1738	1	RSC1A1	1	15988099	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	185132	15988099	233262522	2	3385											
EPB41	2035	broad.mit.edu	37	chr1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaaaaggcccaaatCtcaggtgtccgaggaagaag	11	9	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000349460.4_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	92					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGGCCCAAATCTCAGGTGTCC	0.443																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(274-276)tCt>tAt		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126	122	124					1																	29314224		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314224C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.275C>A	1.37:g.29314224C>A	ENSP00000345259:p.Ser92Tyr					EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y	p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	402	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	92					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.275C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817592	0.70912	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.89270	-2.39;-2.35;-2.23;-2.49;-2.39;-2.4	5.6	4.69	0.59074	.	0.246899	0.35646	N	0.003068	D	0.91181	0.7222	L	0.32530	0.975	0.41562	D	0.988632	D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.983;0.998;0.999;0.998	D	0.92387	0.5918	10	0.72032	D	0.01	.	15.2268	0.73357	0.1417:0.8583:0.0:0.0	.	92;92;92;92;92	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	Y	109;92;92;92;92;92;92;92;92	ENSP00000345259:S92Y;ENSP00000348397:S92Y;ENSP00000381839:S92Y;ENSP00000290100:S92Y;ENSP00000362904:S92Y;ENSP00000362903:S92Y	ENSP00000345259:S92Y	S	+	2	0	EPB41	29186811	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.161000	0.50747	1.375000	0.46248	-0.133000	0.14855	TCT		0.443	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		134	382	1	0	1.73943e-47	1	1.92304e-47	134	382					A	29314224	C	A	29314224	3	1	28	1	0	0	0	0	1	0	0	0	5169	913	32	3	277	3	EPB41	1	29314224	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	13326125	29314224	219936397	3	3386											
MACF1	23499	broad.mit.edu	37	chr1	39788668	39788670	+	In_Frame_Del	DEL	GGA	GGA	-													agtgatgcactccggcgtctGgaggaggaggaggtgaggac							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:39788668_39788670delGGA	ENST00000372915.3	+	32	4326_4328	c.4239_4241delGGA	c.(4237-4242)ctggag>ctg	p.E1417del	MACF1_ENST00000545844.1_In_Frame_Del_p.E1417del|MACF1_ENST00000317713.7_In_Frame_Del_p.E1417del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_In_Frame_Del_p.E1417del|MACF1_ENST00000539005.1_In_Frame_Del_p.E1417del|MACF1_ENST00000567887.1_In_Frame_Del_p.E1449del|MACF1_ENST00000564288.1_In_Frame_Del_p.E1412del			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1417	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCGGCGTCTGGAGGAGGAGGAG	0.493																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4222-4227)ctg>ct		microtubule-actin crosslinking factor 1																																				SO:0001651	inframe_deletion	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788668_39788670delGGA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4239_4241delGGA	1.37:g.39788677_39788679delGGA	ENSP00000362006:p.Glu1417del					MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del	p.LE1408del			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	5001_5003	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1413					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	ENST00000372915.3	37	c.4224_4226delGGA																																																																																					0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	579						7	579	---	---	---	---	-	39788670	GGA	-	39788668	7	5	28	1	0	1	0	1	0	0	0	0	9183	1335	47	0	4365	0	MACF1	1	39788668	In_Frame_Del	DEL	GGA	TCGA-3A-A9IH-01A-12D-A397-08	10474444	39788668	209461953	4	3387											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	901						7	901	---	---	---	---	-	74957826	CTT	-	74957824	6	5	28	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-3A-A9IH-01A-12D-A397-08	35169156	74957824	174292797	5	3388											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784858	149784858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggatgcggcgggccaActggatgtccttgggcatga	16	12	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:149784858A>G	ENST00000331491.1	-	1	378	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGCGGGCCAACTGGATGTCC	0.587																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(379-381)Ttg>Ctg		histone cluster 2, H3d							48	50	50					1																	149784858		1568	3581	5149	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784858A>G	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.379T>C	1.37:g.149784858A>G							p.L127L	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	378	-			127					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.379T>C	CCDS41388.1																																																																																				0.587	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		11	220	0	0	0	1	0	11	220					G	149784858	A	G	149784858	2	3	28	1	0	0	0	0	0	0	0	1	7211	40	2	4		4	HIST2H3D	1	149784858	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	74827034	149784858	99465763	6	3389											
CTSS	1520	broad.mit.edu	37	chr1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtggcagcacgatatTttgagtcatattgacatttc	8	7	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	218					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACGATATTTTGAGTCATA	0.393																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(652-654)aAa>aCa		cathepsin S							104	89	94					1																	150722622		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150722622T>G	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.653A>C	1.37:g.150722622T>G	ENSP00000357981:p.Lys218Thr					CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	p.K218T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		6	913	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.653A>C	CCDS968.1	.	.	.	.	.	.	.	.	.	.	T	5.005	0.186606	0.09547	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97598	-4.45;1.98	5.45	3.18	0.36537	Peptidase C1A, papain C-terminal (2);	0.409268	0.29668	N	0.011514	T	0.78534	0.4298	N	0.02213	-0.635	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.005;0.01	T	0.73107	-0.4087	10	0.20046	T	0.44	.	6.2497	0.20839	0.0:0.0981:0.3428:0.5592	.	168;218	B4DWC9;P25774	.;CATS_HUMAN	T	168;218	ENSP00000408414:K168T;ENSP00000357981:K218T	ENSP00000357981:K218T	K	-	2	0	CTSS	148989246	0.000000	0.05858	0.088000	0.20740	0.438000	0.31896	0.260000	0.18424	0.910000	0.36722	0.383000	0.25322	AAA		0.393	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		82	257	0	0	0	1	0	82	257					G	150722622	T	G	150722622	3	3	28	1	0	0	0	0	1	0	0	0	4052	1841	64	4	354	4	CTSS	1	150722622	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	937764	150722622	98527999	7	3390											
DENND4B	9909	broad.mit.edu	37	chr1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgacacctgctcctGctgctgctgctgctgctgct	11	14	0	1	rs3835302		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2728-2730)Cag>Gag		DENN/MADD domain containing 4B							23	26	25					1																	153907281		2184	4283	6467	SO:0001583	missense	9909							g.chr1:153907281G>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2728C>G	1.37:g.153907281G>C	ENSP00000354597:p.Gln910Glu						p.Q910E	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3146	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		910			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2728C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.472	-0.559641	0.03967	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06142	3.35;3.34	3.46	-0.019	0.13961	.	5.533310	0.00166	N	0.000005	T	0.00784	0.0026	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.05833	T	0.94	.	5.5137	0.16894	0.0:0.2087:0.4093:0.382	.	910	O75064	DEN4B_HUMAN	E	910;921	ENSP00000354597:Q910E;ENSP00000357635:Q921E	ENSP00000354597:Q910E	Q	-	1	0	DENND4B	152173905	0.001000	0.12720	0.930000	0.37139	0.549000	0.35272	0.424000	0.21330	0.270000	0.21984	0.264000	0.19307	CAG		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	155	0	0	0	1	0	4	155					C	153907281	G	C	153907281	3	2	28	1	0	0	0	0	1	0	0	0	4450	1328	46	5	1806	5	DENND4B	1	153907281	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	3184659	153907281	95343340	8	3391											
ASH1L	55870	broad.mit.edu	37	chr1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttagagccaaatgtggCagcaagacttgataccgtat	9	8	0	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAATGTGGCAGCAAGACTT	0.368																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3079-3081)Gcc>Acc		ash1 (absent, small, or homeotic)-like (Drosophila)							71	74	73					1																	155449582		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449582C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3079G>A	1.37:g.155449582C>T	ENSP00000357330:p.Ala1027Thr					ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T	p.A1027T			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3718	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1027					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3079G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732582	0.69189	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89864	0.4018	10	0.41790	T	0.15	.	18.7909	0.91974	0.0:1.0:0.0:0.0	.	1027;1027	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	1027	ENSP00000357330:A1027T;ENSP00000376204:A1027T	ENSP00000357330:A1027T	A	-	1	0	ASH1L	153716206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.773000	0.95371	0.655000	0.94253	GCC		0.368	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		104	298	0	0	0	1	0	104	298					T	155449582	C	T	155449582	3	4	28	1	0	0	0	0	1	0	0	0	1042	710	25	2	5919	2	ASH1L	1	155449582	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1542301	155449582	93801039	9	3392											
FMN2	56776	broad.mit.edu	37	chr1	240371196	240371196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccctctacccggagcGggcataccccctccgccccc	7	25	1	0	rs201173147		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3082-3084)gcG>gcA		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371196G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3084G>A	1.37:g.240371196G>A							p.A1028A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3314	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1028			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3084G>A	CCDS31069.2																																																																																				0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	109	0	0	0	1	0	4	109					A	240371196	G	A	240371196	2	1	28	1	0	0	0	0	0	0	0	1	5975	1103	39	1		1	FMN2	1	240371196	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	84921614	240371196	8879425	10	3393											
OR2G2	81470	broad.mit.edu	37	chr1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacccatgaaaactatcGcctatggtggctgtttggtt	12	8	0	1	rs372540193		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(286-288)Gcc>Acc		olfactory receptor, family 2, subfamily G, member 2		A	THR/ALA	0,4406		0,0,2203	194	157	169		286	-1.9	0.8	1		169	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2G2	NM_001001915.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	96/318	247751947	1,13005	2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751947G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.286G>A	1.37:g.247751947G>A	ENSP00000326349:p.Ala96Thr					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.A96T	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	286	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		96					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.286G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	3.757	-0.050345	0.07407	0.0	1.16E-4	ENSG00000177489	ENST00000320065	T	0.01084	5.36	4.29	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.226724	0.21845	N	0.068280	T	0.00384	0.0012	N	0.00303	-1.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.33141	T	0.24	.	6.2696	0.20947	0.29:0.0:0.086:0.624	.	96	Q8NGZ5	OR2G2_HUMAN	T	96	ENSP00000326349:A96T	ENSP00000326349:A96T	A	+	1	0	OR2G2	245818570	0.000000	0.05858	0.761000	0.31378	0.087000	0.18053	0.484000	0.22308	-0.476000	0.06842	-0.333000	0.08304	GCC		0.527	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			81	423	0	0	0	1	0	81	423					A	247751947	G	A	247751947	3	1	28	1	0	0	0	0	1	0	0	0	11040	1087	38	1	288	1	OR2G2	1	247751947	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	7380751	247751947	1498674	11	3394											
BIRC6	57448	broad.mit.edu	37	chr2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtgctgagcgcaggccGgaagatggcggctgcggctg	19	9	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	27					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)			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)					AGCGCAGGCCGGAAGATGGCG	0.746																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(79-81)cGg>cAg		baculoviral IAP repeat containing 6							2	2	2					2																	32582309		1620	3581	5201	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32582309G>A	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.80G>A	2.37:g.32582309G>A	ENSP00000393596:p.Arg27Gln						p.R27Q	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			1	214	+	Acute lymphoblastic leukemia(172;0.155)		27					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.80G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653258	0.88056	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	3.94	3.94	0.45596	.	.	.	.	.	T	0.58623	0.2135	N	0.08118	0	0.30688	N	0.75164	D	0.63880	0.993	B	0.44108	0.441	T	0.63839	-0.6546	9	0.62326	D	0.03	.	13.3635	0.60669	0.0:0.0:1.0:0.0	.	27	Q9NR09	BIRC6_HUMAN	Q	27	ENSP00000393596:R27Q	ENSP00000393596:R27Q	R	+	2	0	BIRC6	32435813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.268000	0.51585	2.198000	0.70561	0.563000	0.77884	CGG		0.746	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	18	0	0	0	1	0	11	18					A	32582309	G	A	32582309	3	1	28	1	0	0	0	0	1	0	0	0	1440	1116	39	1	82	1	BIRC6	2	32582309	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		32582309	210617064	12	3395											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		10	340						10	340	---	---	---	---	-	39095413	CCA	-	39095411	7	5	28	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-3A-A9IH-01A-12D-A397-08	6513102	39095411	204103962	13	3396											
RETSAT	54884	broad.mit.edu	37	chr2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtgtcatagtaaacaTagtagttggtggacggcaga	13	6	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	409					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1225-1227)tAt>tGt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						132	107	116					2																	85571747		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571747T>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1226A>G	2.37:g.85571747T>C	ENSP00000295802:p.Tyr409Cys					RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C	p.Y409C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			7	1338	-			409					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1226A>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031158|3.031158	0.54790|0.54790	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.23754	.|1.92;1.89	4.62|4.62	0.301|0.301	0.15781|0.15781	.|.	.|0.505894	.|0.23504	.|N	.|0.047471	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.60455|0.60455	1.87|1.87	0.31918|0.31918	N|N	0.613849|0.613849	.|D;D;D	.|0.62365	.|0.991;0.967;0.985	.|P;P;P	.|0.57324	.|0.818;0.818;0.571	T|T	0.43393|0.43393	-0.9394|-0.9394	5|10	.|0.52906	.|T	.|0.07	-5.281|-5.281	8.9397|8.9397	0.35722|0.35722	0.5511:0.0:0.0:0.4489|0.5511:0.0:0.0:0.4489	.|.	.|348;348;409	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	V|C	198|409;409;348	.|ENSP00000295802:Y409C;ENSP00000405040:Y348C	.|ENSP00000263854:Y409C	M|Y	-|-	1|2	0|0	RETSAT|RETSAT	85425258|85425258	0.005000|0.005000	0.15991|0.15991	0.987000|0.987000	0.45799|0.45799	0.861000|0.861000	0.49209|0.49209	0.074000|0.074000	0.14662|0.14662	0.197000|0.197000	0.20387|0.20387	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.567	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		55	214	0	0	0	1	0	55	214					C	85571747	T	C	85571747	3	2	28	1	0	0	0	0	1	0	0	0	13288	1406	49	4	626	4	RETSAT	2	85571747	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	46476336	85571747	157627626	14	3397											
INPP4A	3631	broad.mit.edu	37	chr2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagtcaggaggtctccGcaaaaagctgcacaaatttg	9	8	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000523221.1	+	11	1127	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	376					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)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1126-1128)cGc>cAc		inositol polyphosphate-4-phosphatase, type I, 107kDa							64	64	64					2																	99163121		1903	4124	6027	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99163121G>A	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.1127G>A	2.37:g.99163121G>A	ENSP00000427722:p.Arg376His					INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.R376H	p.R376H	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			13	1520	+			376					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1127G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523740	0.96431	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.43637	-0.9379	10	0.12430	T	0.62	-21.0946	18.117	0.89559	0.0:0.0:1.0:0.0	.	376;376;376;376	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	H	376	ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H	ENSP00000074304:R376H	R	+	2	0	INPP4A	98529553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.757000	0.94681	0.655000	0.94253	CGC		0.458	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	185	0	0	0	1	0	4	185					A	99163121	G	A	99163121	3	1	28	1	0	0	0	0	1	0	0	0	7782	1087	38	1	1169	1	INPP4A	2	99163121	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	13591374	99163121	144036252	15	3398											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	384						7	384	---	---	---	---	-	99977777	TGA	-	99977775	7	5	28	1	0	1	0	1	0	0	0	0	5062	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-3A-A9IH-01A-12D-A397-08	814654	99977775	143221598	16	3399											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A													tttccttacatctttctcagINSaaaaaaaagaagagaccatt							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	8	1043						8	1043	---	---	---	---	A	102638649	-	A	102638648	8	5	28	1	0	1	1	0	0	0	1	0	7689	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	2660873	102638648	140560725	17	3400											
STAT1	6772	broad.mit.edu	37	chr2	191859900	191859900	+	Silent	SNP	A	A	T													tccaattcctccaactttttAagctgctgccgaacttgctg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000392322.3_Silent_p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CCAACTTTTTAAGCTGCTGCC	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)ctT>ctA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153	131	138					2																	191859900		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859900A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.831T>A	2.37:g.191859900A>T						STAT1_ENST00000392322.3_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000409465.1_Silent_p.L277L	p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1218	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.831T>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	344	0	0	0	1	0	5	344					T	191859900	A	T	191859900	2	4	28	1	0	0	0	0	0	0	0	1	15316	349	13	5		5	STAT1	2	191859900	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	89221252	191859900	51339473	18	3401	20	2									
STAT1	6772	broad.mit.edu	37	chr2	191859901	191859901	+	Missense_Mutation	SNP	A	A	T													ccaattcctccaactttttaAgctgctgccgaacttgctgc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859901A>T	ENST00000361099.3	-	10	1217	c.830T>A	c.(829-831)cTt>cAt	p.L277H	STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAACTTTTTAAGCTGCTGCCG	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)cTt>cAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153	131	138					2																	191859901		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859901A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.830T>A	2.37:g.191859901A>T	ENSP00000354394:p.Leu277His					STAT1_ENST00000392322.3_Missense_Mutation_p.L277H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000409465.1_Missense_Mutation_p.L277H	p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1217	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.830T>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588409	0.86851	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.66	5.66	0.87406	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86536	0.1825	10	0.87932	D	0	-19.3136	15.9051	0.79423	1.0:0.0:0.0:0.0	.	277;277	P42224-2;P42224	.;STAT1_HUMAN	H	277;277;277;279	ENSP00000354394:L277H;ENSP00000386244:L277H;ENSP00000376136:L277H;ENSP00000376137:L279H	ENSP00000354394:L277H	L	-	2	0	STAT1	191568146	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	9.189000	0.94928	2.151000	0.67156	0.455000	0.32223	CTT		0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	346	0	0	0	1	0	5	346					T	191859901	A	T	191859901	3	4	28	1	0	0	0	0	1	0	0	0	15316	72	3	5	1490	5	STAT1	2	191859901	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	1	191859901	51339472	19	3402	20	2									
SGOL2	151246	broad.mit.edu	37	chr2	201438010	201438030	+	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-													atcaaattttagattcctacAaagtagttaaaaaacgtaag					rs192793098|rs375817690|rs535907885	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENST00000357799.4	+	7	3039_3059	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	c.(2941-2961)aaagtagttaaaaaacgtaagdel	p.KVVKKRK981del		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	981					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT	0.308																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.V982E(1)	large_intestine(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2941-2961)del		shugoshin-like 2 (S. pombe)																																				SO:0001651	inframe_deletion	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2941_2961delAAAGTAGTTAAAAAACGTAAG	2.37:g.201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENSP00000350447:p.Lys981_Lys987del						p.KVVKKRK981del	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3039_3059	+			981					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	In_Frame_Del	DEL	ENST00000357799.4	37	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	CCDS42796.1																																																																																				0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	301						13	301	---	---	---	---	-	201438030	AAAGTAGTTAAAAAACGTAAG	-	201438010	7	5	28	1	0	1	0	1	0	0	0	0	14267	131	5	0	2963	0	SGOL2	2	201438010	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	TCGA-3A-A9IH-01A-12D-A397-08	9578109	201438010	41761363	20	3403											
SLC4A3	6508	broad.mit.edu	37	chr2	220496782	220496783	+	Frame_Shift_Ins	INS	-	-	C													gggcagtcccagcggcctggINScccccatccttcgcaggaag					rs34369613		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:220496782_220496783insC	ENST00000358055.3	+	7	1416_1417	c.904_905insC	c.(904-906)gccfs	p.A302fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A302fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A329fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A302fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A329fs|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	302					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)			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)		CAGCGGCCTGGCCCCCATCCTT	0.634																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(904-906)cccfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496782_220496783insC		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.909dupC	2.37:g.220496787_220496787dupC	ENSP00000350756:p.Ala302fs					SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.P302fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.P302fs	p.P302fs			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)	7	1416_1417	+		Renal(207;0.0183)	302					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.904_905insC	CCDS2445.1																																																																																				0.634	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		15	302						15	302	---	---	---	---	C	220496783	-	C	220496782	7	5	28	1	0	1	1	0	0	0	0	0	14705	1203	42	0	1007	0	SLC4A3	2	220496782	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	19058772	220496782	22702591	21	3404											
GHRL	51738	broad.mit.edu	37	chr3	10331548	10331548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttggctggtggcttcttCgactcctttctctgctggaa	11	11	2	0	rs146899970		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000429122.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000605105.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	41					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|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 locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTGGCTTCTTCGACTCCTTTC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16947	0.001		0.0	False		,,,				2504	0.0					ENST00000335542.8																			0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(121-123)tcG>tcA		ghrelin/obestatin prepropeptide		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	119	127	124		120,87,84,,123	4	1	3	dbSNP_134	124	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,,	40/117,29/106,28/105,,41/118	10331548	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|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 circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331548C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.123G>A	3.37:g.10331548C>T						GHRL_ENST00000437422.2_Silent_p.S29S|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000429122.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S	p.S41S			Q9UBU3	GHRL_HUMAN			4	993	-			41					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.123G>A	CCDS33700.1																																																																																				0.572	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		126	545	0	0	0	1	0	126	545					T	10331548	C	T	10331548	2	4	28	1	0	0	0	0	0	0	0	1	6403	871	31	1		1	GHRL	3	10331548	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		10331548	187690882	22	3405											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	295						8	295	---	---	---	---	-	49723112	T	-	49723112	6	5	28	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-3A-A9IH-01A-12D-A397-08	39391564	49723112	148299318	23	3406											
EIF2B5	8893	broad.mit.edu	37	chr3	183860631	183860631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtatggattctgaggaGccggacagccggggaggctc	16	9	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	537					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATTCTGAGGAGCCGGACAGCC	0.483																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1609-1611)gaG>gaA		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							34	39	38					3																	183860631		2202	4300	6502	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860631G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1611G>A	3.37:g.183860631G>A						EIF2B5_ENST00000444495.1_Silent_p.E537E	p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1733	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		537					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.1611G>A	CCDS3252.1																																																																																				0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			16	72	0	0	0	1	0	16	72					A	183860631	G	A	183860631	2	1	28	1	0	0	0	0	0	0	0	1	5020	962	34	2		2	EIF2B5	3	183860631	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	134137519	183860631	14161799	24	3407											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	425						7	425	---	---	---	---	-	106863684	CCA	-	106863682	7	5	28	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-3A-A9IH-01A-12D-A397-08		106863682	84290594	25	3408											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	414						8	414	---	---	---	---	-	146077125	CAG	-	146077123	7	5	28	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-3A-A9IH-01A-12D-A397-08	39213441	146077123	45077153	26	3409											
SPOCK3	50859	broad.mit.edu	37	chr4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccttgaaccagtcccGcaatctgtttgccacttccc	8	15	1	1	rs560446612		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000510741.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	214					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AACCAGTCCCGCAATCTGTTT	0.393																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(640-642)Cgg>Tgg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							105	90	95					4																	167713399		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167713399G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.640C>T	4.37:g.167713399G>A	ENSP00000349677:p.Arg214Trp					SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000510741.1_Intron	p.R214W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	8	777	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	214					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.640C>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668665	0.67814	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.88586	1.42;1.43;1.43;1.42;1.42;1.42;1.35;0.83;1.43;1.23;0.83;1.12;2.14;-2.4	5.33	3.57	0.40892	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.124274	0.51477	N	0.000082	D	0.93501	0.7926	M	0.82193	2.58	0.50313	D	0.999869	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	0.87578	0.991;0.996;0.995;0.998;0.996;0.997;0.998	D	0.92483	0.5994	10	0.72032	D	0.01	-2.4622	8.3992	0.32574	0.0729:0.0:0.5389:0.3881	.	116;118;163;223;214;211;214	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	W	214;211;211;214;214;214;94;116;211;163;116;118;211;93	ENSP00000349677:R214W;ENSP00000350153:R211W;ENSP00000425570:R211W;ENSP00000420920:R214W;ENSP00000423421:R214W;ENSP00000423606:R214W;ENSP00000444789:R94W;ENSP00000426318:R116W;ENSP00000425502:R211W;ENSP00000411344:R163W;ENSP00000445430:R116W;ENSP00000438142:R118W;ENSP00000426177:R211W;ENSP00000423176:R93W	ENSP00000349677:R214W	R	-	1	2	SPOCK3	167949974	0.995000	0.38212	0.833000	0.33012	0.952000	0.60782	1.388000	0.34442	0.714000	0.32081	0.563000	0.77884	CGG		0.393	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			74	239	0	0	0	1	0	74	239					A	167713399	G	A	167713399	3	1	28	1	0	0	0	0	1	0	0	0	15133	1086	38	1	690	1	SPOCK3	4	167713399	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	21636276	167713399	23440877	27	3410											
HMGB2	3148	broad.mit.edu	37	chr4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctttgagcctgttgGcctgccagggcccttctttc	9	14	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2	178					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GAGCCTGTTGGCCTGCCAGGG	0.433																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(532-534)Cca>Tca		high mobility group box 2							175	158	164					4																	174253329		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253329G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.532C>T	4.37:g.174253329G>A	ENSP00000296503:p.Pro178Ser					HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S	p.P178S			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1405	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	178					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.532C>T	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946710	0.34377	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.94758	-3.51;-3.51;-3.51	5.9	4.2	0.49525	.	0.105398	0.42682	N	0.000667	D	0.88340	0.6410	L	0.28192	0.835	0.54753	D	0.999982	B	0.12013	0.005	B	0.06405	0.002	T	0.81147	-0.1065	10	0.22109	T	0.4	.	9.8684	0.41160	0.2071:0.0:0.7929:0.0	.	178	P26583	HMGB2_HUMAN	S	178	ENSP00000296503:P178S;ENSP00000393448:P178S;ENSP00000404912:P178S	ENSP00000296503:P178S	P	-	1	0	HMGB2	174489904	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.668000	0.68074	0.841000	0.35020	-0.145000	0.13849	CCA		0.433	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		79	336	0	0	0	1	0	79	336					A	174253329	G	A	174253329	3	1	28	1	0	0	0	0	1	0	0	0	7256	1203	42	2	101	2	HMGB2	4	174253329	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	6539930	174253329	16900947	28	3411											
MOCS2	4338	broad.mit.edu	37	chr5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-													aagcactatcctccactaatGggggggataacggcaatttc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:52402940delG	ENST00000396954.3	-	3	742	c.65delC	c.(64-66)ccafs	p.P22fs	CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000527216.1_Frame_Shift_Del_p.P79fs|MOCS2_ENST00000508922.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000510818.2_Frame_Shift_Del_p.P84fs|CTD-2366F13.1_ENST00000512301.1_RNA|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000582677.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000450852.3_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000584946.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000361377.4_Frame_Shift_Del_p.P84fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTCCACTAATGGGGGGGATAA	0.423																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(250-252)ccfs		molybdenum cofactor synthesis 2							95	84	87					5																	52402940		2203	4300	6503	SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402940delG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.65delC	5.37:g.52402940delG	ENSP00000380157:p.Pro22fs					MOCS2_ENST00000510818.2_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000508922.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000396954.3_Frame_Shift_Del_p.P22fs|MOCS2_ENST00000584946.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000582677.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000450852.3_Frame_Shift_Del_p.P84fs	p.P84fs			O96033	MOC2A_HUMAN			3	293	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	84						Frame_Shift_Del	DEL	ENST00000396954.3	37	c.252delC	CCDS3958.1																																																																																				0.423	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	325						7	325	---	---	---	---	-	52402940	G	-	52402940	7	5	28	1	0	1	0	1	0	0	0	0	9732	1348	47	0	521	0	MOCS2	5	52402940	Frame_Shift_Del	DEL	G	TCGA-3A-A9IH-01A-12D-A397-08		52402940	128512320	29	3412											
ARSB	411	broad.mit.edu	37	chr5	78280984	78280984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcggcgccaacaacaGcagcagcagcagcgggagga	16	14	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.751																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Ctg>Ttg		arylsulfatase B							3	4	3					5																	78280984		1372	3025	4397	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280984G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.88C>T	5.37:g.78280984G>A						ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L	p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	1	624	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	30					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.88C>T	CCDS4043.1																																																																																				0.751	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		3	35	0	0	0	1	0	3	35					A	78280984	G	A	78280984	2	1	28	1	0	0	0	0	0	0	0	1	989	962	34	2		2	ARSB	5	78280984	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	25878044	78280984	102634276	30	3413											
ATG10	83734	broad.mit.edu	37	chr5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccatgggacactattaCgcaacaggttggagagtatt	13	7	0	1	rs548892230		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	149					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACACTATTACGCAACAGGTT	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19557	0.0		0.0	False		,,,				2504	0.0					ENST00000282185.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(445-447)aCg>aTg		autophagy related 10							180	156	164					5																	81474399		2203	4300	6503	SO:0001583	missense	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81474399C>T	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"APG10 autophagy 10-like (S. cerevisiae)", "ATG10 autophagy related 10 homolog (S. cerevisiae)"	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.446C>T	5.37:g.81474399C>T	ENSP00000282185:p.Thr149Met					ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	p.T149M	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	5	740	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	149					B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	c.446C>T	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431692	0.43122	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.55413	1.58;1.58;0.52	5.37	3.55	0.40652	Autophagy-related protein 3 (1);	0.159978	0.53938	D	0.000049	T	0.74481	0.3722	M	0.90145	3.09	0.42169	D	0.991636	D;D	0.89917	1.0;0.996	D;P	0.75484	0.986;0.863	T	0.77672	-0.2500	10	0.87932	D	0	-3.6582	10.2806	0.43537	0.0:0.7898:0.1361:0.0741	.	149;149	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	M	149	ENSP00000282185:T149M;ENSP00000404938:T149M;ENSP00000425225:T149M	ENSP00000282185:T149M	T	+	2	0	ATG10	81510155	0.996000	0.38824	0.685000	0.30070	0.300000	0.27592	3.737000	0.55060	0.725000	0.32318	0.305000	0.20034	ACG		0.433	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		7	241	0	0	0	1	0	7	241					T	81474399	C	T	81474399	3	4	28	1	0	0	0	0	1	0	0	0	1090	536	19	1	460	1	ATG10	5	81474399	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	3193415	81474399	99440861	31	3414											
APC	324	broad.mit.edu	37	chr5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttatggaatttgtcaGcacattgcactgagaataaa	9	7	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A597T|APC_ENST00000257430.4_Missense_Mutation_p.A597T			P25054	APC_HUMAN	adenomatous polyposis coli	597	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTTGTCAGCACATTGCAC	0.398		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1789-1791)Gca>Aca		adenomatous polyposis coli							198	163	175					5																	112170693		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170693G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1789G>A	5.37:g.112170693G>A	ENSP00000413133:p.Ala597Thr	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A597T	p.A597T			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2169	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	597			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1789G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859311	0.97036	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.95171	-2.91;-3.63;-2.91;-2.91;-3.09	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.97492	1.0054	10	0.87932	D	0	-19.1568	20.3409	0.98764	0.0:0.0:1.0:0.0	.	599;597	Q4LE70;P25054	.;APC_HUMAN	T	597;579;597;597;597	ENSP00000413133:A597T;ENSP00000423224:A579T;ENSP00000257430:A597T;ENSP00000427089:A597T;ENSP00000423828:A597T	ENSP00000257430:A597T	A	+	1	0	APC	112198592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GCA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		5	410	0	0	0	1	0	5	410					A	112170693	G	A	112170693	3	1	28	1	0	0	0	0	1	0	0	0	763	971	34	2	1843	2	APC	5	112170693	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	30696294	112170693	68744567	32	3415											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719009	140719009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggattcctcttaagaatgcGcatgatgcagacgtaggtga	12	8	1	4	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	157	Cadherin 2. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAATGCGCATGATGCAG	0.498																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(469-471)gcG>gcA									82	80	81					5																	140719009		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719009G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.471G>A	5.37:g.140719009G>A						PCDHGA1_ENST00000517417.1_Intron	p.A157A	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	471	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.471G>A	CCDS47289.1																																																																																				0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	481	0	0	0	1	0	13	481					A	140719009	G	A	140719009	2	1	28	1	0	0	0	0	0	0	0	1	11596	1074	38	1		1	PCDHGA2	5	140719009	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	28548316	140719009	40196251	33	3416											
DIAPH1	1729	broad.mit.edu	37	chr5	140963181	140963181	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctccttctggctcatgCcctagacagaaggcatagac	9	13	3	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140963181C>T	ENST00000398557.4	-	5	544	c.404G>A	c.(403-405)gGc>gAc	p.G135D	DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D|DIAPH1_ENST00000253811.6_Splice_Site_p.G135D|DIAPH1_ENST00000398566.3_Splice_Site_p.G126D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	135	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTCATGCCCTAGACAGA	0.423																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e5-1		diaphanous-related formin 1							96	98	97					5																	140963181		1944	4135	6079	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963181C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.403-1G>A	5.37:g.140963181C>T						DIAPH1_ENST00000520569.1_Splice_Site_p.G81_splice|DIAPH1_ENST00000518047.1_Splice_Site_p.G126_splice|DIAPH1_ENST00000398562.2_Splice_Site_p.G126_splice|DIAPH1_ENST00000398557.4_Splice_Site_p.G135_splice|DIAPH1_ENST00000398566.3_Splice_Site_p.G126_splice|DIAPH1_ENST00000389054.3_Splice_Site_p.G135_splice|DIAPH1_ENST00000389057.5_Splice_Site_p.G126_splice	p.G135_splice			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	544	-			135			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	c.402_splice	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839182	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.72	5.72	0.89469	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.144419	0.45126	D	0.000397	D	0.90566	0.7043	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89389	0.3687	10	0.38643	T	0.18	.	18.65	0.91427	0.0:1.0:0.0:0.0	.	126;135	E9PEZ2;O60610	.;DIAP1_HUMAN	D	135;81;126;126;126;135;135;126;81	ENSP00000373706:G135D;ENSP00000429282:G81D;ENSP00000381570:G126D;ENSP00000373709:G126D;ENSP00000381572:G126D;ENSP00000381565:G135D;ENSP00000253811:G135D;ENSP00000428268:G126D;ENSP00000430587:G81D	ENSP00000253811:G135D	G	-	2	0	DIAPH1	140943365	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	6.567000	0.73983	2.705000	0.92388	0.585000	0.79938	GGC		0.423	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Missense_Mutation	6	652	0	0	0	1	0	6	652					T	140963181	C	T	140963181	5	4	28	1	0	0	0	0	0	0	1	0	4534	753	26	2	3510	2	DIAPH1	5	140963181	Splice_Site	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	244172	140963181	39952079	34	3417											
SLC6A7	6534	broad.mit.edu	37	chr5	149581925	149581925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgtggattgaagctGctcttcagatcttctattcc	9	10	4	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:149581925G>T	ENST00000230671.2	+	7	1245	c.874G>T	c.(874-876)Gct>Tct	p.A292S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	292					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GATTGAAGCTGCTCTTCAGAT	0.537																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(874-876)Gct>Tct		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						99	105	103					5																	149581925		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581925G>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.874G>T	5.37:g.149581925G>T	ENSP00000230671:p.Ala292Ser					SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1245	+		all_hematologic(541;0.224)	292					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.874G>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472933	0.84640	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76186	-1.0;-1.0	4.87	4.87	0.63330	.	0.048502	0.85682	D	0.000000	D	0.86197	0.5875	M	0.87617	2.895	0.58432	D	0.999999	P	0.48230	0.907	P	0.56514	0.8	D	0.88768	0.3262	10	0.72032	D	0.01	.	18.183	0.89785	0.0:0.0:1.0:0.0	.	292	Q99884	SC6A7_HUMAN	S	292	ENSP00000230671:A292S;ENSP00000428200:A292S	ENSP00000230671:A292S	A	+	1	0	SLC6A7	149562118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.856000	0.86956	2.505000	0.84491	0.561000	0.74099	GCT		0.537	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		6	435	1	0	1	1	1	6	435					T	149581925	G	T	149581925	3	4	28	1	0	0	0	0	1	0	0	0	14739	1319	46	3	900	3	SLC6A7	5	149581925	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	8618744	149581925	31333335	35	3418											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacgacatcttcgagcGcatcgccggcgaggcttccc	11	15	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119	116	117					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His						p.R73H	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		5	545	0	0	0	1	0	5	545					A	26184241	G	A	26184241	3	1	28	1	0	0	0	0	1	0	0	0	7174	1087	38	1	220	1	HIST1H2BE	6	26184241	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		26184241	144930826	36	3419											
NOTCH4	4855	broad.mit.edu	37	chr6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttggggcctcacctgtgtGtccaggcagacactggcagt	13	12	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1038	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACCTGTGTGTCCAGGCAGA	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3112-3114)Cac>Gac		notch 4							53	39	44					6																	32171920		1510	2707	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171920G>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3112C>G	6.37:g.32171920G>C	ENSP00000364163:p.His1038Asp						p.H1038D	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3250	-			1038			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3112C>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359258	0.41801	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.77	0.511	0.16989	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.469254	0.18037	N	0.153753	T	0.65386	0.2686	L	0.41492	1.28	0.80722	D	1	B	0.31599	0.33	B	0.19148	0.024	T	0.62595	-0.6821	10	0.72032	D	0.01	.	6.776	0.23621	0.5687:0.0:0.4313:0.0	.	1038	Q99466	NOTC4_HUMAN	D	1038	ENSP00000364163:H1038D	ENSP00000364163:H1038D	H	-	1	0	NOTCH4	32279898	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.363000	0.52321	0.202000	0.20498	0.561000	0.74099	CAC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			32	62	0	0	0	1	0	32	62					C	32171920	G	C	32171920	3	2	28	1	0	0	0	0	1	0	0	0	10593	1377	48	5	2947	5	NOTCH4	6	32171920	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	5987679	32171920	138943147	37	3420											
PHIP	55023	broad.mit.edu	37	chr6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-													tagctggggttttaagatccTttttttcctttcagggctgt							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150	155	153					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	503						7	503	---	---	---	---	-	79655961	T	-	79655961	7	5	28	1	0	1	0	1	0	0	0	0	11884	1608	56	0	1090	0	PHIP	6	79655961	Frame_Shift_Del	DEL	T	TCGA-3A-A9IH-01A-12D-A397-08	47484041	79655961	91459106	38	3421											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	361						12	361	---	---	---	---	A	80751897	-	A	80751896	7	5	28	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	1095935	80751896	90363171	39	3422											
T	6862	broad.mit.edu	37	chr6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgggagcccgggGtgacggcgccgttgctcaca	16	14	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	359					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II 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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAGCCCGGGGTGACGGCGCC	0.687									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1075-1077)aCc>aTc		T, brachyury homolog (mouse)							14	18	17					6																	166572035		2197	4290	6487	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166572035G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1076C>T	6.37:g.166572035G>A	ENSP00000296946:p.Thr359Ile					T_ENST00000366871.3_Missense_Mutation_p.T301I	p.T359I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1544	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	359					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1076C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983254	0.35036	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83914	-1.78;-1.78	4.92	4.03	0.46877	.	0.368313	0.26109	N	0.026292	T	0.71736	0.3375	M	0.65975	2.015	0.48087	D	0.999585	P;B;P	0.36392	0.551;0.005;0.551	B;B;B	0.36885	0.235;0.017;0.235	T	0.71248	-0.4649	10	0.23891	T	0.37	.	12.083	0.53682	0.084:0.0:0.916:0.0	.	301;359;301	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	I	359;359;301	ENSP00000296946:T359I;ENSP00000355836:T301I	ENSP00000296946:T359I	T	-	2	0	T	166492025	1.000000	0.71417	0.002000	0.10522	0.387000	0.30353	5.408000	0.66368	2.406000	0.81754	0.655000	0.94253	ACC		0.687	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		22	41	0	0	0	1	0	22	41					A	166572035	G	A	166572035	3	1	28	1	0	0	0	0	1	0	0	0	15540	1261	44	2	235	2	T	6	166572035	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	85820139	166572035	4543032	40	3423											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	1056						7	1056	---	---	---	---	-	8126099	CAG	-	8126097	7	5	28	1	0	1	0	1	0	0	0	0	6460	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-3A-A9IH-01A-12D-A397-08		8126097	151012566	41	3424											
IGF2BP3	10643	broad.mit.edu	37	chr7	23458413	23458413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcccactgtaaatgaggCgggatatttcgtatctgaag	10	9	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	89	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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTAAATGAGGCGGGATATTTC	0.313																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(265-267)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 3							38	37	37					7																	23458413		2199	4293	6492	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23458413C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.267G>A	7.37:g.23458413C>T						IGF2BP3_ENST00000491719.1_5'UTR	p.P89P	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			3	623	-			89			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.267G>A	CCDS5382.1																																																																																				0.313	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	111	0	0	0	1	0	19	111					T	23458413	C	T	23458413	2	4	28	1	0	0	0	0	0	0	0	1	7605	755	27	1		1	IGF2BP3	7	23458413	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	15332316	23458413	135680250	42	3425											
PDE1C	5137	broad.mit.edu	37	chr7	31864537	31864537	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcatcgattaatggactCacaatcttctcggtcatgtc	7	10	5	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:31864537C>A	ENST00000396191.1	-	13	1805	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PDE1C_ENST00000396184.3_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000321453.7_Silent_p.V450V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	450	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTAATGGACTCACAATCTTCT	0.507																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1348-1350)gtG>gtT		phosphodiesterase 1C, calmodulin-dependent 70kDa							186	156	166					7																	31864537		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864537C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1350G>T	7.37:g.31864537C>A						PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396191.1_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V	p.V450V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	1554	-			450			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1350G>T	CCDS55099.1																																																																																				0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			5	532	1	0	3.59834e-05	1	3.80888e-05	5	532					A	31864537	C	A	31864537	2	1	28	1	0	0	0	0	0	0	0	1	11677	813	29	3		3	PDE1C	7	31864537	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	8406124	31864537	127274126	43	3426											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74005322	74005322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcccgagagcatgtccGcatggtcatcattaaccagc	11	12	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:74005322G>A	ENST00000265755.3	+	24	3005	c.2612G>A	c.(2611-2613)cGc>cAc	p.R871H	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	871					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCATGTCCGCATGGTCATC	0.612																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2566-2568)cGc>cAc		GTF2I repeat domain containing 1							73	65	68					7																	74005322		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74005322G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2612G>A	7.37:g.74005322G>A	ENSP00000265755:p.Arg871His					GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H	p.R856H			Q9UHL9	GT2D1_HUMAN			24	4258	+			871					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2567G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117457	0.37339	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	2.74	0.32292	.	0.414937	0.24879	N	0.034877	T	0.18257	0.0438	N	0.03608	-0.345	0.29184	N	0.876305	B;B;B;B	0.33857	0.124;0.245;0.429;0.211	B;B;B;B	0.34242	0.028;0.087;0.178;0.076	T	0.08554	-1.0716	10	0.49607	T	0.09	-16.5833	5.9352	0.19161	0.1572:0.0:0.6884:0.1544	.	888;856;871;856	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	H	871;888;856;856	ENSP00000265755:R871H;ENSP00000397566:R888H;ENSP00000408477:R856H;ENSP00000418383:R856H	ENSP00000265755:R871H	R	+	2	0	GTF2IRD1	73643258	0.997000	0.39634	0.965000	0.40720	0.060000	0.15804	2.041000	0.41213	0.719000	0.32188	-0.987000	0.02553	CGC		0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		5	315	0	0	0	1	0	5	315					A	74005322	G	A	74005322	3	1	28	1	0	0	0	0	1	0	0	0	6898	1087	38	1	2702	1	GTF2IRD1	7	74005322	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	42140785	74005322	85133341	44	3427											
ZNF804B	219578	broad.mit.edu	37	chr7	88965553	88965553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataaatatactggtgtgaCtgattcaacagagacccaag	8	7	1	3	rs141579525	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:88965553C>T	ENST00000333190.4	+	4	3866	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1086							metal ion binding (GO:0046872)	p.T1086N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTGGTGTGACTGATTCAACA	0.353										HNSCC(36;0.09)			C|||	2	0.000399361	0.0	0.0014	5008	,	,		19325	0.0		0.001	False		,,,				2504	0.0					ENST00000333190.4																			1	Substitution - Missense(1)	p.T1086N(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3256-3258)aCt>aTt		zinc finger protein 804B		C	ILE/THR	7,4397	12.9+/-30.5	0,7,2195	55	54	54		3257	1.9	0	7	dbSNP_134	54	37,8561	24.6+/-71.5	0,37,4262	yes	missense	ZNF804B	NM_181646.2	89	0,44,6457	TT,TC,CC		0.4303,0.1589,0.3384	benign	1086/1350	88965553	44,12958	2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965553C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3257C>T	7.37:g.88965553C>T	ENSP00000329638:p.Thr1086Ile	HNSCC(36;0.09)					p.T1086I	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3866	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1086					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3257C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314232	0.10789	0.001589	0.004303	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.77	1.94	0.25998	.	0.887861	0.09842	N	0.748721	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.43605	-0.9381	10	0.37606	T	0.19	0.0263	3.5384	0.07802	0.1322:0.5672:0.1461:0.1545	.	1086	A4D1E1	Z804B_HUMAN	I	1086	ENSP00000329638:T1086I	ENSP00000329638:T1086I	T	+	2	0	ZNF804B	88803489	0.102000	0.21896	0.038000	0.18304	0.675000	0.39556	0.870000	0.28010	0.702000	0.31825	0.655000	0.94253	ACT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		76	208	0	0	0	1	0	76	208					T	88965553	C	T	88965553	3	4	28	1	0	0	0	0	1	0	0	0	18224	565	20	2	3271	2	ZNF804B	7	88965553	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	14960231	88965553	70173110	45	3428											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1211	0	0	0	1	0	9	1211					G	99913460	A	G	99913460	2	3	28	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	10947907	99913460	59225203	46	3429											
SLC12A9	56996	broad.mit.edu	37	chr7	100463679	100463679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccctcaacctgctgCggccccggggtgggcccggc	16	17	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100463679C>T	ENST00000354161.3	+	14	2322	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	733					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACCTGCTGCGGCCCCGGGG	0.711																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2197-2199)Cgg>Tgg		solute carrier family 12, member 9							77	98	91					7																	100463679		2191	4276	6467	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463679C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2197C>T	7.37:g.100463679C>T	ENSP00000275730:p.Arg733Trp						p.R733W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2322	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		733					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2197C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074321	0.76415	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91686	-2.89	5.24	3.32	0.38043	.	0.069807	0.56097	D	0.000035	D	0.93321	0.7871	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.92644	0.6127	10	0.87932	D	0	.	11.8725	0.52529	0.3159:0.6841:0.0:0.0	.	733	Q9BXP2	S12A9_HUMAN	W	733;359	ENSP00000275730:R733W	ENSP00000275730:R733W	R	+	1	2	SLC12A9	100301615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.454000	0.52986	0.517000	0.28361	0.555000	0.69702	CGG		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	971	0	0	0	1	0	7	971					T	100463679	C	T	100463679	3	4	28	1	0	0	0	0	1	0	0	0	14440	759	27	1	2247	1	SLC12A9	7	100463679	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	550219	100463679	58674984	47	3430											
MUC17	140453	broad.mit.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	17	3	1	rs71286276		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1431T(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4291-4293)Gct>Act		mucin 17, cell surface associated							207	222	217					7																	100678988		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678988G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr						p.A1431T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1431			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4291G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	890	0	0	0	1	0	8	890					A	100678988	G	A	100678988	3	1	28	1	0	0	0	0	1	0	0	0	10015	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	215309	100678988	58459675	48	3431											
LUC7L2	100996928	broad.mit.edu	37	chr7	139102397	139102408	+	In_Frame_Del	DEL	GCAGCCGTAGCC	GCAGCCGTAGCC	-													tcgccacaggtcccgctccaGcagccgtagccgcagccgta							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:139102397_139102408delGCAGCCGTAGCC	ENST00000354926.4	+	9	1277_1288	c.923_934delGCAGCCGTAGCC	c.(922-936)agcagccgtagccgc>agc	p.SRSR309del	C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SRSR306del|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SRSR308del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SRSR375del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TCCCGCTCCAGCAGCCGTAGCCGCAGCCGTAG	0.547																																						ENST00000354926.4																			0											c.(922-936)agc>a																																						SO:0001651	inframe_deletion	0							g.chr7:139102397_139102408delGCAGCCGTAGCC		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.923_934delGCAGCCGTAGCC	7.37:g.139102397_139102408delGCAGCCGTAGCC	ENSP00000347005:p.Ser309_Arg312del					C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SSRSR305del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SSRSR307del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SSRSR374del	p.SSRSR308del	NM_016019.3	NP_057103.2					9	1277_1288	+									In_Frame_Del	DEL	ENST00000354926.4	37	c.923_934delGCAGCCGTAGCC	CCDS43656.1																																																																																				0.547	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			12	257						12	257	---	---	---	---	-	139102408	GCAGCCGTAGCC	-	139102397	7	5	28	1	0	1	0	1	0	0	0	0	9121	971	34	0	957	0	LUC7L2	7	139102397	In_Frame_Del	DEL	GCAGCCGTAGCC	TCGA-3A-A9IH-01A-12D-A397-08	38423409	139102397	20036266	49	3432											
OR2A5	393046	broad.mit.edu	37	chr7	143748124	143748124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcatcctggtggggccGctctgcctggtgctggtctc	15	12	3	0	rs372854651		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(628-630)ccG>ccA		olfactory receptor, family 2, subfamily A, member 5		G		0,4028		0,0,2014	126	129	128		630	-2.7	1	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748124G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.630G>A	7.37:g.143748124G>A							p.P210P	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	664	+	Melanoma(164;0.0783)		210					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.630G>A	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			6	759	0	0	0	1	0	6	759					A	143748124	G	A	143748124	2	1	28	1	0	0	0	0	0	0	0	1	11023	1074	38	1		1	OR2A5	7	143748124	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	4645727	143748124	15390539	50	3433											
CSMD1	64478	broad.mit.edu	37	chr8	2857619	2857619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctccactaatgtgaccGttcacaatcgggtctgggga	10	12	3	1	rs141445155	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:2857619G>A	ENST00000520002.1	-	54	8622	c.8067C>T	c.(8065-8067)aaC>aaT	p.N2689N	CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000602557.1_Silent_p.N2689N|CSMD1_ENST00000537824.1_Silent_p.N2688N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2689	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAATGTGACCGTTCACAATCG	0.443													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		15714	0.0		0.0	False		,,,				2504	0.0					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8065-8067)aaC>aaT		CUB and Sushi multiple domains 1		G		29,3761		0,29,1866	90	89	89		8064	-9.3	0	8	dbSNP_134	89	1,8239		0,1,4119	no	coding-synonymous	CSMD1	NM_033225.5		0,30,5985	AA,AG,GG		0.0121,0.7652,0.2494		2688/3565	2857619	30,12000	1895	4120	6015	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2857619G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8067C>T	8.37:g.2857619G>A						CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000520002.1_Silent_p.N2689N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N	p.N2689N			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8622	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2689			Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8067C>T		13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	G	0.259	-1.000873	0.02128	0.007652	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.77	-9.26	0.00662	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77094	-0.2715	4	.	.	.	.	21.0708	0.99945	0.8344:0.0:0.1656:0.0	.	.	.	.	W	2106	.	.	R	-	1	2	CSMD1	2845026	0.692000	0.27719	0.038000	0.18304	0.022000	0.10575	0.010000	0.13242	-2.591000	0.00456	-1.731000	0.00696	CGG		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	249	0	0	0	1	0	5	249					A	2857619	G	A	2857619	2	1	28	1	0	0	0	0	0	0	0	1	3955	1136	40	1		1	CSMD1	8	2857619	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		2857619	143506403	51	3434											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	73	0	0	0	1	0	10	73					G	41790659	T	G	41790659	2	3	28	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	38933040	41790659	104573363	52	3435											
ST18	9705	broad.mit.edu	37	chr8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccttgcacgagggcatcCggacaagctgaaatagggac	12	10	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	791					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)			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)				CGAGGGCATCCGGACAAGCTG	0.463																																						ENST00000276480.7																			0				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						c.(2371-2373)Gga>Aga		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							115	112	113					8																	53045690		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045690C>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.2371G>A	8.37:g.53045690C>T	ENSP00000276480:p.Gly791Arg						p.G791R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			21	3054	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	791					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2371G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217661	0.95104	.	.	ENSG00000147488	ENST00000276480	T	0.69685	-0.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87848	0.2656	10	0.87932	D	0	-21.3142	20.2985	0.98592	0.0:1.0:0.0:0.0	.	791	O60284	ST18_HUMAN	R	791	ENSP00000276480:G791R	ENSP00000276480:G791R	G	-	1	0	ST18	53208243	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			127	417	0	0	0	1	0	127	417					T	53045690	C	T	53045690	3	4	28	1	0	0	0	0	1	0	0	0	15264	661	23	1	796	1	ST18	8	53045690	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	11255031	53045690	93318332	53	3436											
KCNB2	9312	broad.mit.edu	37	chr8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggagctgcaggaaaCggacgaatttggacaactca	13	10	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCAGGAAACGGACGAATTT	0.473																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(661-663)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							196	177	184					8																	73848252		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848252C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.662C>T	8.37:g.73848252C>T	ENSP00000430846:p.Thr221Met						p.T221M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1250	+	Breast(64;0.137)		221					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.662C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037564	0.07497	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-10.1	0.00402	.	1.616920	0.03742	N	0.255128	D	0.90027	0.6886	N	0.11756	0.17	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.81671	-0.0827	10	0.44086	T	0.13	.	7.1553	0.25635	0.2329:0.3187:0.0:0.4484	.	221	Q92953	KCNB2_HUMAN	M	221	ENSP00000430846:T221M	ENSP00000430846:T221M	T	+	2	0	KCNB2	74010806	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.989000	0.03736	-1.915000	0.01077	-0.274000	0.10170	ACG		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		11	374	0	0	0	1	0	11	374					T	73848252	C	T	73848252	3	4	28	1	0	0	0	0	1	0	0	0	8043	536	19	1	668	1	KCNB2	8	73848252	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20802562	73848252	72515770	54	3437											
CDH17	1015	broad.mit.edu	37	chr8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaactgttggcagtattttCttcatccctgtcatgtgcag	8	9	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			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)			GCAGTATTTTCTTCATCCCTG	0.418																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1108-1110)Gaa>Aaa		cadherin 17, LI cadherin (liver-intestine)							89	89	89					8																	95178163		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95178163C>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.1108G>A	8.37:g.95178163C>T	ENSP00000027335:p.Glu370Lys					CDH17_ENST00000450165.2_Missense_Mutation_p.E370K|CDH17_ENST00000441892.2_Missense_Mutation_p.E156K	p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1232	-	Breast(36;4.65e-06)		370			Cadherin 4.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1108G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896470	0.17686	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.59502	0.26;4.6;0.26	5.89	0.741	0.18336	Cadherin (4);Cadherin-like (1);	0.629868	0.14169	N	0.336864	T	0.44138	0.1279	L	0.56124	1.755	0.39255	D	0.964112	B;B	0.28026	0.198;0.019	B;B	0.24269	0.05;0.052	T	0.22556	-1.0213	10	0.13470	T	0.59	-9.1691	7.0442	0.25037	0.0:0.5545:0.2333:0.2122	.	156;370	E7EN24;Q12864	.;CAD17_HUMAN	K	370;156;370	ENSP00000027335:E370K;ENSP00000392811:E156K;ENSP00000401468:E370K	ENSP00000027335:E370K	E	-	1	0	CDH17	95247339	0.655000	0.27376	0.866000	0.34008	0.051000	0.14879	0.052000	0.14163	0.391000	0.25143	0.561000	0.74099	GAA		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		4	240	0	0	0	1	0	4	240					T	95178163	C	T	95178163	3	4	28	1	0	0	0	0	1	0	0	0	3111	922	32	2	1426	2	CDH17	8	95178163	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	21329911	95178163	51185859	55	3438											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		12	109						12	109	---	---	---	---	-	2039779	CAG	-	2039777	7	5	28	1	0	1	0	1	0	0	0	0	14819	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-3A-A9IH-01A-12D-A397-08		2039777	139173654	56	3439											
CDKN2A	1029	broad.mit.edu	37	chr9	21971095	21971096	+	Frame_Shift_Ins	INS	-	-	CC													cagcgtgtccaggaagccctINScccgggcagcgtcgtgcacg					rs121913384		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:21971095_21971096insCC	ENST00000304494.5	-	2	532_533	c.262_263insGG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G143fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E37fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGAAGCCCTCCCGGGCAGCG	0.757	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1391	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|liver(10)|autonomic_ganglia(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(304-306)gggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971095_21971096insCC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.261_262dupGG	9.37:g.21971096_21971097dupCC	ENSP00000307101:p.Glu88fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G143fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.G88fs	p.G102fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	597_598	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.305_306insGG	CCDS6510.1																																																																																				0.757	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	55						18	55	---	---	---	---	CC	21971096	-	CC	21971095	7	5	28	1	0	1	1	0	0	0	0	0	3170	1551	54	0	215	0	CDKN2A	9	21971095	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	19931318	21971095	119242336	57	3440											
AQP7	364	broad.mit.edu	37	chr9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcctcgaccactgacctCattcaggaagccccgccaca	6	18	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	175					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(247-249)Gag>Aag		aquaporin 7							50	46	48					9																	33386077		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33386077C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.247G>A	9.37:g.33386077C>T	ENSP00000441619:p.Glu83Lys					AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K	p.E83K			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	565	-			175					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	AQP7	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG		0.592	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	187	0	0	0	1	0	6	187					T	33386077	C	T	33386077	3	4	28	1	0	0	0	0	1	0	0	0	831	835	29	2	517	2	AQP7	9	33386077	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	11414982	33386077	107827354	58	3441											
OR13F1	138805	broad.mit.edu	37	chr9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatggctttggtgtatgCcggacaaacccccatgttga	10	9	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(835-837)gCc>gTc		olfactory receptor, family 13, subfamily F, member 1							74	73	74					9																	107267379		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267379C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.836C>T	9.37:g.107267379C>T	ENSP00000334452:p.Ala279Val						p.A279V	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	925	+			279					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.836C>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822838	0.16678	.	.	ENSG00000186881	ENST00000334726	T	0.00063	8.78	4.3	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.231740	0.05909	N	0.631330	T	0.00210	0.0006	L	0.45137	1.4	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.49418	-0.8942	10	0.72032	D	0.01	.	12.8128	0.57649	0.0:0.6638:0.3362:0.0	.	279	Q8NGS4	O13F1_HUMAN	V	279	ENSP00000334452:A279V	ENSP00000334452:A279V	A	+	2	0	OR13F1	106307200	0.000000	0.05858	0.501000	0.27601	0.197000	0.23852	0.950000	0.29122	0.740000	0.32651	0.655000	0.94253	GCC		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			6	357	0	0	0	1	0	6	357					T	107267379	C	T	107267379	3	4	28	1	0	0	0	0	1	0	0	0	10983	739	26	2	838	2	OR13F1	9	107267379	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	73881302	107267379	33946052	59	3442											
GOLGA1	2800	broad.mit.edu	37	chr9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcagattctgttccttctCgtctattatggctgtcaggt	9	11	4	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512																																						ENST00000373555.4																			1	Substitution - Missense(1)	p.E509K(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1525-1527)Gag>Aag		golgin A1							236	223	227					9																	127651788		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651788C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1525G>A	9.37:g.127651788C>T	ENSP00000362656:p.Glu509Lys						p.E509K	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			17	1858	-			509			Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1525G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691632	0.48097	.	.	ENSG00000136935	ENST00000373555	T	0.35789	1.29	5.22	3.38	0.38709	.	0.000000	0.47093	D	0.000241	T	0.28234	0.0697	L	0.47716	1.5	0.29653	N	0.843775	D	0.58620	0.983	B	0.39299	0.296	T	0.16012	-1.0417	10	0.31617	T	0.26	-1.372	11.536	0.50636	0.0:0.8667:0.0:0.1333	.	509	Q92805	GOGA1_HUMAN	K	509	ENSP00000362656:E509K	ENSP00000362656:E509K	E	-	1	0	GOLGA1	126691609	0.505000	0.26131	0.581000	0.28614	0.206000	0.24218	0.853000	0.27777	0.698000	0.31739	0.448000	0.29417	GAG		0.512	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		89	450	0	0	0	1	0	89	450					T	127651788	C	T	127651788	3	4	28	1	0	0	0	0	1	0	0	0	6580	893	31	1	806	1	GOLGA1	9	127651788	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20384409	127651788	13561643	60	3443											
COBRA1	25920	broad.mit.edu	37	chr9	140160826	140160826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctccggctgctggcgctggGccagggagcctgggacatga	18	12	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:140160826G>C	ENST00000343053.4	+	8	1380	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	348					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGGCGCTGGGCCAGGGAGCC	0.662																																						ENST00000343053.4																			0											c.(1042-1044)gGc>gCc		negative elongation factor complex member B							34	32	33					9																	140160826		2199	4289	6488	SO:0001583	missense	25920							g.chr9:140160826G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1043G>C	9.37:g.140160826G>C	ENSP00000339495:p.Gly348Ala						p.G348A	NM_015456.3	NP_056271.2					8	1380	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1043G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879657	0.91740	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79492	-0.1781	9	0.72032	D	0.01	-52.4541	17.637	0.88125	0.0:0.0:1.0:0.0	.	348	Q8WX92	NELFB_HUMAN	A	348	.	ENSP00000339495:G348A	G	+	2	0	COBRA1	139280647	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.442000	0.73443	2.506000	0.84524	0.491000	0.48974	GGC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		46	163	0	0	0	1	0	46	163					C	140160826	G	C	140160826	3	2	28	1	0	0	0	0	1	0	0	0	3664	1203	42	5	1073	5	COBRA1	9	140160826	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	12509038	140160826	1052605	61	3444											
SFXN3	81855	broad.mit.edu	37	chr10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggtcctgattggccGcatgtcagcccaggtgccca	14	12	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000224807.5	+	4	740	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587																																						ENST00000393459.1																			1	Substitution - Missense(1)	p.R95H(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(271-273)cGc>cAc		sideroflexin 3							122	92	102					10																	102795364		2203	4300	6503	SO:0001583	missense	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102795364G>A	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"Sideroflexins"	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.284G>A	10.37:g.102795364G>A	ENSP00000224807:p.Arg95His					SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H	p.R91H			Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	745	+		Colorectal(252;0.234)	95					Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	c.272G>A	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093229	0.94149	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.57595	0.39;0.39	5.11	4.19	0.49359	.	0.103262	0.64402	D	0.000005	T	0.80237	0.4586	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.86037	0.1517	10	0.87932	D	0	-15.974	14.1571	0.65424	0.0737:0.0:0.9262:0.0	.	95;95;95	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	H	91;95	ENSP00000377103:R91H;ENSP00000224807:R95H	ENSP00000224807:R95H	R	+	2	0	SFXN3	102785354	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.802000	0.85969	2.652000	0.90054	0.561000	0.74099	CGC		0.587	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		4	174	0	0	0	1	0	4	174					A	102795364	G	A	102795364	3	1	28	1	0	0	0	0	1	0	0	0	14246	1087	38	1	294	1	SFXN3	10	102795364	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		102795364	32739383	62	3445											
LRRC27	80313	broad.mit.edu	37	chr10	134155718	134155718	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttttgctttaaaggCatttgaaaactttgctttta	7	4	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000368614.3	+	4	448	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000392638.2_Splice_Site_p.H115Y|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAAAGGCATTTGAAAAC	0.264																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.e4-1		leucine rich repeat containing 27							23	23	23					10																	134155718		2171	4266	6437	SO:0001630	splice_region_variant	80313							g.chr10:134155718C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.342-1C>T	10.37:g.134155718C>T						LRRC27_ENST00000368614.3_Splice_Site_p.H115_splice|LRRC27_ENST00000368613.4_Splice_Site_p.H115_splice|LRRC27_ENST00000368612.1_Splice_Site_p.H53_splice|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Splice_Site_p.H115_splice|LRRC27_ENST00000368615.3_Splice_Site_p.H115_splice|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000368610.3_Splice_Site_p.H53_splice	p.H115_splice			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	4	538	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	115					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Splice_Site	SNP	ENST00000368614.3	37	c.341_splice	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848731	0.32699	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.76	2.75	0.32379	.	0.153086	0.30999	N	0.008452	T	0.41050	0.1142	L	0.39326	1.205	0.80722	D	1	B;B;B;B	0.32350	0.113;0.166;0.263;0.366	B;B;B;B	0.27796	0.031;0.063;0.052;0.083	T	0.32025	-0.9922	10	0.44086	T	0.13	-13.2043	5.8781	0.18840	0.0:0.7451:0.0:0.2549	.	115;53;115;115	Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;LRC27_HUMAN;.	Y	115;115;115;115;115;53;53	ENSP00000357604:H115Y;ENSP00000376413:H115Y;ENSP00000342641:H115Y;ENSP00000357603:H115Y;ENSP00000357602:H115Y;ENSP00000357601:H53Y;ENSP00000357599:H53Y	ENSP00000342641:H115Y	H	+	1	0	LRRC27	134005708	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.824000	0.27379	1.177000	0.42855	0.655000	0.94253	CAT		0.264	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	Missense_Mutation	22	66	0	0	0	1	0	22	66					T	134155718	C	T	134155718	5	4	28	1	0	0	0	0	0	0	1	0	9019	724	25	2	353	2	LRRC27	10	134155718	Splice_Site	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	31360354	134155718	1379029	63	3446											
OR52A4	390053	broad.mit.edu	37	chr11	5142557	5142557	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccaaaaaatatcaagcatCttgggcacaatgctggtgct	8	9	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATCAAGCATCTTGGGCACAA	0.438																																						ENST00000498233.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22															57	55	55					11																	5142557		2201	4298	6499			0							g.chr11:5142557C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142557C>A													Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	841	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							RNA	SNP	ENST00000498233.1	37			.	.	.	.	.	.	.	.	.	.	C	13.16	2.154681	0.38021	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.18	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32133	0.0819	.	.	.	0.23056	N	0.998369	B	0.34290	0.447	B	0.38921	0.285	T	0.38714	-0.9648	6	0.51188	T	0.08	.	3.4013	0.07324	0.0:0.378:0.2029:0.4191	.	84	A6NMU1	O52A4_HUMAN	N	84	.	ENSP00000369727:K84N	K	-	3	2	OR52A4	5099133	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-3.743000	0.00378	0.647000	0.30713	0.650000	0.86243	AAG		0.438	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		70	196	1	0	3.28615e-30	1	3.61295e-30	70	196					A	5142557	C	A	5142557	1	1	28	0	1	0	0	0	0	0	0	0	11151	912	32	3		3	OR52A4	11	5142557	RNA	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		5142557	129863959	64	3447											
ABCC8	6833	broad.mit.edu	37	chr11	17415843	17415843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatggaagccgtggcctcGtccatgatgaagatgctggt	13	9	1	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTGGCCTCGTCCATGATGA	0.577																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4516-4518)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						74	72	73					11																	17415843		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415843G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4515C>T	11.37:g.17415843G>A						ABCC8_ENST00000389817.3_Silent_p.D1505D	p.D1506D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4643	-			1505		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).	ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.4518C>T	CCDS31437.1																																																																																				0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		99	441	0	0	0	1	0	99	441					A	17415843	G	A	17415843	2	1	28	1	0	0	0	0	0	0	0	1	58	1136	40	1		1	ABCC8	11	17415843	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	12273286	17415843	117590673	65	3448											
METT5D1	196074	broad.mit.edu	37	chr11	28311787	28311787	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctatgctgggccagttcagcCaggcagaagccttattaatg	11	10	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:28311787C>G	ENST00000407364.3	+	5	794	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E|METTL15_ENST00000342303.5_Missense_Mutation_p.Q148E			A6NJ78	MET15_HUMAN	methyltransferase like 15	148							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CCAGTTCAGCCAGGCAGAAGC	0.433																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(442-444)Cag>Gag		methyltransferase like 15							44	44	44					11																	28311787		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28311787C>G	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.442C>G	11.37:g.28311787C>G	ENSP00000384369:p.Gln148Glu					METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E|METTL15_ENST00000407364.3_Missense_Mutation_p.Q148E	p.Q148E	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			5	897	+			148					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.442C>G	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700273	0.30142	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.88	4.96	0.65561	.	0.116199	0.64402	D	0.000018	T	0.20577	0.0495	N	0.10916	0.065	0.80722	D	1	B;B;B	0.32781	0.001;0.001;0.384	B;B;B	0.38264	0.013;0.005;0.269	T	0.09357	-1.0678	9	.	.	.	.	14.6247	0.68614	0.0:0.7232:0.2768:0.0	.	148;148;148	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	E	148	ENSP00000385507:Q148E;ENSP00000342259:Q148E;ENSP00000384369:Q148E;ENSP00000307251:Q148E	.	Q	+	1	0	METTL15	28268363	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.311000	0.33562	1.484000	0.48361	0.655000	0.94253	CAG		0.433	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		39	94	0	0	0	1	0	39	94					G	28311787	C	G	28311787	3	3	28	1	0	0	0	0	1	0	0	0	9533	595	21	5	452	5	METT5D1	11	28311787	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	10895944	28311787	106694729	66	3449											
PRDX5	25824	broad.mit.edu	37	chr11	64088369	64088370	+	Frame_Shift_Ins	INS	-	-	G													ctgatcccactggggcctttINSgggaaggtgagtgttcccct							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:64088369_64088370insG	ENST00000265462.4	+	4	599_600	c.471_472insG	c.(472-474)gggfs	p.G158fs	PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.G114fs|PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.G69fs|TRMT112_ENST00000544844.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	158	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTGGGGCCTTTGGGAAGGTGAG	0.574																																						ENST00000265462.4																			0				breast(1)|kidney(1)|lung(1)|skin(1)	4						c.(469-474)ttggaafs		peroxiredoxin 5	Auranofin(DB00995)																																			SO:0001589	frameshift_variant	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64088369_64088370insG	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.474dupG	11.37:g.64088372_64088372dupG	ENSP00000265462:p.Gly158fs					PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.E69fs|PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.E114fs	p.E158fs	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN			4	599_600	+			158			Thioredoxin.		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Frame_Shift_Ins	INS	ENST00000265462.4	37	c.471_472insG	CCDS8069.1																																																																																				0.574	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		9	933						9	933	---	---	---	---	G	64088370	-	G	64088369	7	5	28	1	0	1	1	0	0	0	0	0	12515	1809	63	0	485	0	PRDX5	11	64088369	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	35776582	64088369	70918147	67	3450											
XRRA1	143570	broad.mit.edu	37	chr11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgctctgggctgaggcGgacagttgtgtcactcaggt	17	9	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C|XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|RN7SL239P_ENST00000490061.2_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGGCTGAGGCGGACAGTTGTG	0.592																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1639-1641)Cgc>Tgc		X-ray radiation resistance associated 1							76	80	79					11																	74559225		2152	4243	6395	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559225G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1639C>T	11.37:g.74559225G>A	ENSP00000339918:p.Arg547Cys					XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	p.R547C	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			15	1970	-			547						Missense_Mutation	SNP	ENST00000340360.6	37	c.1639C>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575885	0.65878	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	4.29	4.29	0.51040	.	1.095810	0.06941	N	0.812752	T	0.58779	0.2146	L	0.51422	1.61	0.09310	N	0.999993	D;D;D;D;D;D;D	0.71674	0.968;0.998;0.995;0.987;0.995;0.994;0.995	B;P;P;P;P;P;P	0.56700	0.232;0.804;0.629;0.534;0.528;0.502;0.528	T	0.49184	-0.8966	10	0.42905	T	0.14	0.0617	12.5443	0.56190	0.0:0.0:1.0:0.0	.	547;149;103;460;491;157;533	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	C	547;272;533;491;460	ENSP00000339918:R547C;ENSP00000319303:R272C;ENSP00000435838:R460C	ENSP00000319303:R272C	R	-	1	0	XRRA1	74236873	0.009000	0.17119	0.162000	0.22713	0.094000	0.18550	1.762000	0.38451	2.678000	0.91216	0.591000	0.81541	CGC		0.592	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		42	128	0	0	0	1	0	42	128					A	74559225	G	A	74559225	3	1	28	1	0	0	0	0	1	0	0	0	17515	1116	39	1	759	1	XRRA1	11	74559225	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	10470856	74559225	60447291	68	3451											
CCDC83	220047	broad.mit.edu	37	chr11	85623735	85623737	+	Intron	DEL	CTG	CTG	-													ccacctctaatcctcgtcatCtgctgctgctgcctttggaa					rs192533193		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:85623735_85623737delCTG	ENST00000342404.3	+	8	1010				CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_In_Frame_Del_p.L283del|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCCTCGTCATCTGCTGCTGCTGC	0.512																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(838-840)del		coiled-coil domain containing 83																																				SO:0001627	intron_variant	220047							g.chr11:85623735_85623737delCTG	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.794+1290CTG>-	11.37:g.85623744_85623746delCTG						CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron	p.L283del	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN			9	1350_1352	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	265					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	In_Frame_Del	DEL	ENST00000342404.3	37	c.838_840delCTG																																																																																					0.512	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		7	949						7	949	---	---	---	---	-	85623737	CTG	-	85623735	6	5	28	0	1	1	0	1	0	0	0	0	2864	912	32	0		0	CCDC83	11	85623735	Intron	DEL	CTG	TCGA-3A-A9IH-01A-12D-A397-08	11064510	85623735	49382781	69	3452											
FAT3	120114	broad.mit.edu	37	chr11	92538476	92538476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatggtggaagtgagCgtcagtgatgtgaatgacaa	15	6	1	4			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3018	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGAGCGTCAGTGATG	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9052-9054)agC>agT		FAT atypical cadherin 3							69	69	69					11																	92538476		1959	4168	6127	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538476C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9054C>T	11.37:g.92538476C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.S3018S|FAT3_ENST00000525166.1_Silent_p.S2868S	p.S3018S			Q8TDW7	FAT3_HUMAN			10	9071	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3018			Cadherin 27.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9054C>T																																																																																					0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	101	0	0	0	1	0	10	101					T	92538476	C	T	92538476	2	4	28	1	0	0	0	0	0	0	0	1	5716	767	27	1		1	FAT3	11	92538476	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	6914741	92538476	42468040	70	3453											
STYK1	55359	broad.mit.edu	37	chr12	10772786	10772786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctctccactctgatgCcggccacagctgcatacagt	10	14	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:10772786C>T	ENST00000075503.3	-	11	1746	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	409						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTCTGATGCCGGCCACAGC	0.478										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1225-1227)gGc>gAc		serine/threonine/tyrosine kinase 1							162	156	158					12																	10772786		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772786C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1226G>A	12.37:g.10772786C>T	ENSP00000075503:p.Gly409Asp	HNSCC(73;0.22)					p.G409D	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			11	1746	-			409					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1226G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342481	0.81911	.	.	ENSG00000060140	ENST00000075503	T	0.78364	-1.17	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	D	0.87075	0.6087	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.88527	0.3100	10	0.72032	D	0.01	-13.5645	15.6766	0.77332	0.0:1.0:0.0:0.0	.	409	Q6J9G0	STYK1_HUMAN	D	409	ENSP00000075503:G409D	ENSP00000075503:G409D	G	-	2	0	STYK1	10664053	0.997000	0.39634	0.992000	0.48379	0.969000	0.65631	5.025000	0.64097	2.279000	0.76181	0.563000	0.77884	GGC		0.478	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		5	614	0	0	0	1	0	5	614					T	10772786	C	T	10772786	3	4	28	1	0	0	0	0	1	0	0	0	15411	739	26	2	46	2	STYK1	12	10772786	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		10772786	123079109	71	3454											
PRB3	5544	broad.mit.edu	37	chr12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							74	94	88					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		7	910	0	0	0	1	0	7	910					T	11420551	C	T	11420551	3	4	28	1	0	0	0	0	1	0	0	0	12491	855	30	2	305	2	PRB3	12	11420551	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	647765	11420551	122431344	72	3455											
ABCC9	10060	broad.mit.edu	37	chr12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccatggataagttagacGtagagagcctaaggatttta	10	8	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261201.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261200.4_Missense_Mutation_p.T400M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	400	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1198-1200)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						101	101	101					12																	22063212		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063212G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1199C>T	12.37:g.22063212G>A	ENSP00000261201:p.Thr400Met					ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M	p.T400M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			8	1198	-			400			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1199C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642321	0.87859	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.66	5.66	0.87406	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	0.93413	0.7899	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.897	D	0.93643	0.6966	10	0.87932	D	0	-17.543	19.7509	0.96268	0.0:0.0:1.0:0.0	.	400;400	O60706;O60706-2	ABCC9_HUMAN;.	M	400;63;400;400	ENSP00000261200:T400M;ENSP00000440521:T63M;ENSP00000261201:T400M;ENSP00000261202:T400M	ENSP00000261200:T400M	T	-	2	0	ABCC9	21954479	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	9.852000	0.99516	2.664000	0.90586	0.650000	0.86243	ACG		0.348	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		105	266	0	0	0	1	0	105	266					A	22063212	G	A	22063212	3	1	28	1	0	0	0	0	1	0	0	0	59	1145	40	1	3716	1	ABCC9	12	22063212	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	10642661	22063212	111788683	73	3456											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		45	237	0	0	0	1	0	45	237					G	25398285	C	G	25398285	3	3	28	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	3335073	25398285	108453610	74	3457											
RACGAP1	29127	broad.mit.edu	37	chr12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagaatctccacccggcGcacaagctgctcaaacagat	8	14	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000427314.2	-	4	272	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCACCCGGCGCACAAGCTGC	0.438																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(49-51)Cgc>Tgc		Rac GTPase activating protein 1							131	140	137					12																	50410450		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50410450G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.49C>T	12.37:g.50410450G>A	ENSP00000404190:p.Arg17Cys					RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C	p.R17C			Q9H0H5	RGAP1_HUMAN			3	350	-			17						Missense_Mutation	SNP	ENST00000427314.2	37	c.49C>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099325	0.76983	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.7	4.81	0.61882	.	0.320727	0.37715	N	0.001971	T	0.76535	0.4001	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.52957	0.714	T	0.79923	-0.1598	10	0.87932	D	0	-2.9543	14.6535	0.68814	0.0695:0.0:0.9304:0.0	.	17	Q9H0H5	RGAP1_HUMAN	C	17;17;17;17;17;17;17;17;29;17;17;17;17;17;17;17	ENSP00000404190:R17C;ENSP00000309871:R17C;ENSP00000413241:R17C;ENSP00000404808:R17C;ENSP00000449374:R17C;ENSP00000449370:R17C;ENSP00000448697:R17C;ENSP00000449170:R17C;ENSP00000449620:R29C;ENSP00000449669:R17C;ENSP00000447393:R17C;ENSP00000447177:R17C;ENSP00000449186:R17C;ENSP00000448707:R17C;ENSP00000449959:R17C;ENSP00000448136:R17C	ENSP00000309871:R17C	R	-	1	0	RACGAP1	48696717	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.287000	0.72671	1.411000	0.46957	0.650000	0.86243	CGC		0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		5	573	0	0	0	1	0	5	573					A	50410450	G	A	50410450	3	1	28	1	0	0	0	0	1	0	0	0	13027	1087	38	1	1913	1	RACGAP1	12	50410450	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	25012165	50410450	83441445	75	3458											
SRGAP1	57522	broad.mit.edu	37	chr12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgagttcagcttctccAggatctgcaagatttcttcc	9	11	4	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	47	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGCTTCTCCAGGATCTGCAA	0.433																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(139-141)cAg>cGg		SLIT-ROBO Rho GTPase activating protein 1							106	111	109					12																	64377799		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64377799A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.140A>G	12.37:g.64377799A>G	ENSP00000347198:p.Gln47Arg					SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R	p.Q47R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	664	+			47			FCH.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.140A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686291	0.88639	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.42513	0.97;0.97;2.57	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.33691	U	0.004654	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	P;B;B	0.38020	0.615;0.096;0.185	P;B;B	0.50270	0.636;0.106;0.14	T	0.54111	-0.8342	9	.	.	.	.	15.199	0.73120	1.0:0.0:0.0:0.0	.	47;7;47	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	R	47;47;7	ENSP00000347198:Q47R;ENSP00000350480:Q47R;ENSP00000437948:Q7R	.	Q	+	2	0	SRGAP1	62664066	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.262000	0.95591	2.060000	0.61445	0.477000	0.44152	CAG		0.433	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			33	487	0	0	0	1	0	33	487					G	64377799	A	G	64377799	3	3	28	1	0	0	0	0	1	0	0	0	15197	188	7	4	146	4	SRGAP1	12	64377799	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	13967349	64377799	69474096	76	3459											
SYT1	6857	broad.mit.edu	37	chr12	79679566	79679566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgtgtgtttctttcaGtgccaccgtgggccttaatt	9	11	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000457153.2_Splice_Site|SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTTTCTTTCAGTGCCACCGTG	0.368																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.e5-1		synaptotagmin I							130	119	123					12																	79679566		2203	4300	6503	SO:0001630	splice_region_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679566G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.167-1G>A	12.37:g.79679566G>A						SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site		NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			5	823	+								Q6AI31	Splice_Site	SNP	ENST00000261205.4	37		CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994229	0.93167	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT1	78203697	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	.		0.368	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639	Intron	45	245	0	0	0	1	0	45	245					A	79679566	G	A	79679566	5	1	28	1	0	0	0	0	0	0	1	0	15517	1043	36	2	172	2	SYT1	12	79679566	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	15301767	79679566	54172329	77	3460											
FRY	10129	broad.mit.edu	37	chr13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcacattttagtgcaAtggtggccaacttgattcag	11	9	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1097						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTAGTGCAATGGTGGCCAA	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3289-3291)Atg>Gtg		furry homolog (Drosophila)							80	77	78					13																	32759255		1928	4121	6049	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759255A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3289A>G	13.37:g.32759255A>G	ENSP00000369600:p.Met1097Val						p.M1097V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3785	+		Lung SC(185;0.0271)	1097					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3289A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755504	0.49362	.	.	ENSG00000073910	ENST00000380250	T	0.22134	1.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.36672	1.1	0.80722	D	1	B	0.29716	0.255	B	0.26969	0.075	T	0.04242	-1.0966	10	0.24483	T	0.36	.	15.6626	0.77199	1.0:0.0:0.0:0.0	.	1097	Q5TBA9	FRY_HUMAN	V	1097	ENSP00000369600:M1097V	ENSP00000369600:M1097V	M	+	1	0	FRY	31657255	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.191000	0.77763	2.161000	0.67846	0.528000	0.53228	ATG		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		81	322	0	0	0	1	0	81	322					G	32759255	A	G	32759255	3	3	28	1	0	0	0	0	1	0	0	0	6090	101	4	4	3391	4	FRY	13	32759255	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08		32759255	82410623	78	3461											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaccgcgagcttcacGtgtgggagctgcgccgcccc	17	14	1	0	rs536973080		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	907					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGAGCTTCACGTGTGGGAGCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.001					ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2719-2721)aCg>aTg		tubulin, gamma complex associated protein 3							13	12	12					13																	113140311		2196	4280	6476	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113140311G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2720C>T	13.37:g.113140311G>A	ENSP00000261965:p.Thr907Met						p.T907M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			22	2906	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		907					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2720C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152609	0.38021	.	.	ENSG00000126216	ENST00000261965	T	0.24350	1.86	4.64	1.7	0.24286	.	0.391386	0.28618	N	0.014706	T	0.11324	0.0276	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	10	0.41790	T	0.15	.	6.8525	0.24022	0.5149:0.0:0.4851:0.0	.	897;907	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	907	ENSP00000261965:T907M	ENSP00000261965:T907M	T	-	2	0	TUBGCP3	112188312	1.000000	0.71417	0.566000	0.28421	0.740000	0.42216	3.101000	0.50283	0.420000	0.25954	0.655000	0.94253	ACG		0.597	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		33	99	0	0	0	1	0	33	99					A	113140311	G	A	113140311	3	1	28	1	0	0	0	0	1	0	0	0	16821	1145	40	1	7	1	TUBGCP3	13	113140311	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	80381056	113140311	2029567	79	3462											
DHRS4	10901	broad.mit.edu	37	chr14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtatcgatatcctaGtctccaatgctgctgtcaac	9	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	114					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(340-342)Gtc>Ctc		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)						297	345	329					14																	24429144		2203	4300	6503	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24429144G>C	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.340G>C	14.37:g.24429144G>C	ENSP00000326219:p.Val114Leu					DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	543	+			114					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.340G>C	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065559	0.36470	.	.	ENSG00000157326	ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741	T;T;D;T	0.90444	0.62;1.22;-2.67;1.22	3.1	1.21	0.21127	NAD(P)-binding domain (1);	0.130045	0.51477	D	0.000095	D	0.93595	0.7955	M	0.88979	2.995	0.45452	D	0.998421	P;P;P;P	0.41569	0.514;0.59;0.663;0.755	B;P;B;P	0.54544	0.329;0.51;0.346;0.755	D	0.91433	0.5167	10	0.66056	D	0.02	.	7.0353	0.24991	0.2376:0.0:0.7624:0.0	.	114;114;114;114	F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2	.;.;.;DHRS4_HUMAN	L	114;96;114;114	ENSP00000326219:V114L;ENSP00000372209:V96L;ENSP00000380265:V114L;ENSP00000440508:V114L	ENSP00000326219:V114L	V	+	1	0	DHRS4	23498984	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	3.267000	0.51577	0.166000	0.19597	0.555000	0.69702	GTC		0.522	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			62	1441	0	0	0	1	0	62	1441					C	24429144	G	C	24429144	3	2	28	1	0	0	0	0	1	0	0	0	4508	1029	36	5	350	5	DHRS4	14	24429144	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		24429144	82920396	80	3463											
GABRB3	2562	broad.mit.edu	37	chr15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcactccatgcacaaatgacTttttgtcatttaagaaatat	4	8	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000311550.5	-	4	494	c.383A>T	c.(382-384)aAg>aTg	p.K128M	GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000541819.2_Missense_Mutation_p.K184M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	128					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACAAATGACTTTTTGTCATT	0.502																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(550-552)aAg>aTg		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						142	127	132					15																	26866539		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866539T>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.383A>T	15.37:g.26866539T>A	ENSP00000308725:p.Lys128Met					GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M	p.K184M			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	653	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	128					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.551A>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063482	0.93898	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.85542	2.76	0.80722	D	1	P;D;D	0.71674	0.717;0.998;0.998	P;D;D	0.70016	0.454;0.917;0.967	D	0.90410	0.4409	10	0.72032	D	0.01	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	184;128;128	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	128;184;128;57;43;43	ENSP00000308725:K128M;ENSP00000442408:K184M;ENSP00000299267:K128M;ENSP00000383049:K57M;ENSP00000439169:K43M;ENSP00000452272:K43M	ENSP00000299267:K128M	K	-	2	0	GABRB3	24417632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.880000	0.87243	2.218000	0.71995	0.378000	0.23410	AAG		0.502	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			130	334	0	0	0	1	0	130	334					A	26866539	T	A	26866539	3	1	28	1	0	0	0	0	1	0	0	0	6195	1609	56	5	1062	5	GABRB3	15	26866539	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08		26866539	75664853	81	3464											
HERC2	8924	broad.mit.edu	37	chr15	28375699	28375699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagaaaactgggatccGcattccactttaactactcc	6	13	0	1	rs61756151	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				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						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185	196	192		12612	-1	1	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	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.chr15:28375699G>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.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	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)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	940	0	0	0	1	0	6	940					A	28375699	G	A	28375699	2	1	28	1	0	0	0	0	0	0	0	1	7088	1079	38	1		1	HERC2	15	28375699	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1509160	28375699	74155693	82	3465											
PPIP5K1	9677	broad.mit.edu	37	chr15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actcacttgacgtagggaaaGggcattatgcagtgtttcca	11	8	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000396923.3	-	28	3428	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1103					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CGTAGGGAAAGGGCATTATGC	0.478																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3307-3309)Ctt>Gtt		diphosphoinositol pentakisphosphate kinase 1							156	135	142					15																	43851071		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43851071G>C	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3307C>G	15.37:g.43851071G>C	ENSP00000380129:p.Leu1103Val					PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V	p.L1103V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			29	3489	-			1103					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3307C>G	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284077	0.80803	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.58060	0.56;0.36;2.25;0.36;0.56;0.56;0.52;2.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.76170	2.325	0.37898	D	0.930941	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76410	-0.2969	10	0.59425	D	0.04	-13.5751	19.609	0.95594	0.0:0.0:1.0:0.0	.	1036;1103;1100;1078	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	V	1099;1078;1036;1078;1103;1103;1078;1103;1079;1036;999	ENSP00000371309:L1099V;ENSP00000353446:L1078V;ENSP00000353253:L1036V;ENSP00000334779:L1078V;ENSP00000380129:L1103V;ENSP00000400887:L1103V;ENSP00000371303:L1079V;ENSP00000308773:L1036V	ENSP00000304750:L1103V	L	-	1	0	PPIP5K1	41638363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.882000	0.98803	0.655000	0.94253	CTT		0.478	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		64	324	0	0	0	1	0	64	324					C	43851071	G	C	43851071	3	2	28	1	0	0	0	0	1	0	0	0	12379	1000	35	5	1130	5	PPIP5K1	15	43851071	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	15475372	43851071	58680321	83	3466											
ZNF280D	54816	broad.mit.edu	37	chr15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctacagctagtgttgTatctgcaaaaactacagtgg	9	8	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000267807.7	-	16	2168	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAGTGTTGTATCTGCAAAA	0.358																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1912-1914)tAc>tGc		zinc finger protein 280D							109	105	106					15																	56958635		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958635T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1952A>G	15.37:g.56958635T>C	ENSP00000267807:p.Tyr651Cys					ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C	p.Y638C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	15	2596	-			651					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1913A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205782	0.58234	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.16324	2.35;3.21	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);	0.660622	0.11753	U	0.532867	T	0.41511	0.1162	M	0.76574	2.34	0.39244	D	0.963911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.27971	-1.0058	10	0.87932	D	0	-20.1193	9.5114	0.39078	0.1573:0.0:0.0:0.8427	.	714;651	B4DHL1;Q6N043	.;Z280D_HUMAN	C	651;638;355	ENSP00000267807:Y651C;ENSP00000379545:Y355C	ENSP00000267807:Y651C	Y	-	2	0	ZNF280D	54745927	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.396000	0.66297	1.983000	0.57843	0.383000	0.25322	TAC		0.358	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		64	322	0	0	0	1	0	64	322					C	56958635	T	C	56958635	3	2	28	1	0	0	0	0	1	0	0	0	17870	1638	57	4	1015	4	ZNF280D	15	56958635	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	13107564	56958635	45572757	84	3467											
HERC1	8925	broad.mit.edu	37	chr15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcacagctgcttccacaCcagaggggccaagtggaggt	13	12	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4604	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTTCCACACCAGAGGGGCC	0.502																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13810-13812)Gtg>Ttg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							56	57	56					15																	63908760		1888	4124	6012	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908760C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13810G>T	15.37:g.63908760C>A	ENSP00000390158:p.Val4604Leu						p.V4604L	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			75	13897	-			4604			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13810G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104026	0.94245	.	.	ENSG00000103657	ENST00000443617	T	0.56776	0.44	5.04	5.04	0.67666	HECT (4);	0.000000	0.64402	D	0.000003	T	0.65228	0.2671	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.66392	-0.5935	10	0.52906	T	0.07	.	18.7804	0.91930	0.0:1.0:0.0:0.0	.	4604	Q15751	HERC1_HUMAN	L	4604	ENSP00000390158:V4604L	ENSP00000390158:V4604L	V	-	1	0	HERC1	61695813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.555000	0.69702	GTG		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		54	180	1	0	5.99346e-17	1	6.48205e-17	54	180					A	63908760	C	A	63908760	3	1	28	1	0	0	0	0	1	0	0	0	7087	507	18	3	791	3	HERC1	15	63908760	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	6950125	63908760	38622632	85	3468											
IGDCC3	9543	broad.mit.edu	37	chr15	65621765	65621765	+	Frame_Shift_Del	DEL	G	G	-													gctgccctgctgcgctggccGgggggaacagctgctccagc					rs145360224	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:65621765delG	ENST00000327987.4	-	13	2419	c.2168delC	c.(2167-2169)ccgfs	p.P723fs	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	723					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCGCTGGCCGGGGGGAACAG	0.632																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2167-2169)cgfs		immunoglobulin superfamily, DCC subclass, member 3							71	86	81					15																	65621765		2198	4285	6483	SO:0001589	frameshift_variant	9543							g.chr15:65621765delG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2168delC	15.37:g.65621765delG	ENSP00000332773:p.Pro723fs						p.P723fs	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2419	-			723					O95215	Frame_Shift_Del	DEL	ENST00000327987.4	37	c.2168delC	CCDS10205.1																																																																																				0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		10	883						10	883	---	---	---	---	-	65621765	G	-	65621765	7	5	28	1	0	1	0	1	0	0	0	0	7598	1116	39	0	284	0	IGDCC3	15	65621765	Frame_Shift_Del	DEL	G	TCGA-3A-A9IH-01A-12D-A397-08	1713005	65621765	36909627	86	3469											
IDH2	3418	broad.mit.edu	37	chr15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccatttcttctggatgGcatactggaagcagctgtgc	13	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	239					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTCTGGATGGCATACTGGAA	0.562			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(715-717)gCc>gTc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							177	167	170					15																	90630770		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630770G>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.716C>T	15.37:g.90630770G>A	ENSP00000331897:p.Ala239Val		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V	p.A239V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		6	829	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		239					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.716C>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556943	0.65425	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.89485	-2.52;-2.52;-2.52	5.74	5.74	0.90152	Isopropylmalate dehydrogenase-like domain (2);	0.101003	0.64402	D	0.000002	D	0.96738	0.8935	H	0.98005	4.125	0.49582	D	0.9998	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.943	D	0.97950	1.0331	10	0.87932	D	0	.	17.4143	0.87495	0.0:0.0:1.0:0.0	.	239;239	Q53GL5;P48735	.;IDHP_HUMAN	V	239;109;187	ENSP00000331897:A239V;ENSP00000438457:A109V;ENSP00000446147:A187V	ENSP00000331897:A239V	A	-	2	0	IDH2	88431774	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	7.797000	0.85911	2.721000	0.93114	0.491000	0.48974	GCC		0.562	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			6	655	0	0	0	1	0	6	655					A	90630770	G	A	90630770	3	1	28	1	0	0	0	0	1	0	0	0	7525	1203	42	2	666	2	IDH2	15	90630770	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	25009005	90630770	11900622	87	3470											
RAB40C	57799	broad.mit.edu	37	chr16	677518	677518	+	Frame_Shift_Del	DEL	G	G	-													actccctggccagcggggccGggggcggcggcagcaagggc					rs370444305		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:677518delG	ENST00000248139.3	+	6	945	c.742delG	c.(742-744)gggfs	p.G251fs	RAB40C_ENST00000539661.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000535977.1_Frame_Shift_Del_p.G251fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	251					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CAGCGGGGCCGGGGGCGGCGG	0.647																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(742-744)ggfs		RAB40C, member RAS oncogene family							90	85	87					16																	677518		2201	4299	6500	SO:0001589	frameshift_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677518delG	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.742delG	16.37:g.677518delG	ENSP00000248139:p.Gly251fs					RAB40C_ENST00000539661.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000248139.3_Frame_Shift_Del_p.G251fs	p.G251fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	964	+		Hepatocellular(780;0.0218)	251					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Del	DEL	ENST00000248139.3	37	c.742delG	CCDS10413.1																																																																																				0.647	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		7	571						7	571	---	---	---	---	-	677518	G	-	677518	7	5	28	1	0	1	0	1	0	0	0	0	12992	1116	39	0	764	0	RAB40C	16	677518	Frame_Shift_Del	DEL	G	TCGA-3A-A9IH-01A-12D-A397-08		677518	89677235	88	3471											
UMOD	7369	broad.mit.edu	37	chr16	20357449	20357449	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactggccaggacgtaccGtcaacactgtcccacagggg	11	16	1	0	rs532447307		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000396134.2_Splice_Site_p.T427M			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.001		0.0	False		,,,				2504	0.0					ENST00000396134.2																			1	Substitution - Missense(1)	p.T394M(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e6+1		uromodulin							32	33	33					16																	20357449		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357449G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1C>T	16.37:g.20357449G>A						UMOD_ENST00000570689.1_Splice_Site_p.T394_splice|UMOD_ENST00000424589.1_Splice_Site_p.T427_splice|UMOD_ENST00000302509.4_Splice_Site_p.T394_splice|UMOD_ENST00000396138.4_Splice_Site_p.T443_splice|UMOD_ENST00000396142.2_Splice_Site_p.T394_splice	p.T427_splice	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			6	1403	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Splice_Site	SNP	ENST00000570689.1	37	c.1281_splice	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Missense_Mutation	27	132	0	0	0	1	0	27	132					A	20357449	G	A	20357449	5	1	28	1	0	0	0	0	0	0	1	0	17033	1159	40	1	769	1	UMOD	16	20357449	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	19679931	20357449	69997304	89	3472											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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)			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						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				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						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		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.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		10	1107						10	1107	---	---	---	---	-	20370702	CCA	-	20370700	7	5	28	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-3A-A9IH-01A-12D-A397-08	13251	20370700	69984053	90	3473											
POLR3E	55718	broad.mit.edu	37	chr16	22330215	22330215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgattccgtggctgttctgCggggcatccagaaggtggcg	16	10	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:22330215C>T	ENST00000299853.5	+	13	1101	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	312					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCTGTTCTGCGGGGCATCCA	0.478																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(934-936)Cgg>Tgg		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							110	108	109					16																	22330215		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22330215C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.934C>T	16.37:g.22330215C>T	ENSP00000299853:p.Arg312Trp					POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W	p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	13	1101	+			312					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.934C>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437518	0.83885	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.76328	2.33	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	T	0.72776	-0.4191	10	0.87932	D	0	-9.8146	20.1772	0.98182	0.0:1.0:0.0:0.0	.	256;276;312;312;312;312	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	W	312;312;276	ENSP00000299853:R312W;ENSP00000352140:R312W;ENSP00000399254:R276W	ENSP00000299853:R312W	R	+	1	2	POLR3E	22237716	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.494000	0.60347	2.778000	0.95560	0.655000	0.94253	CGG		0.478	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	560	0	0	0	1	0	7	560					T	22330215	C	T	22330215	3	4	28	1	0	0	0	0	1	0	0	0	12274	759	27	1	980	1	POLR3E	16	22330215	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1959515	22330215	68024538	91	3474											
ZNF423	23090	broad.mit.edu	37	chr16	49672109	49672109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtgtttctggttggcGtgggcttggtggatatgggc	17	6	1	0	rs377569533		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000567169.1_Silent_p.H201H|ZNF423_ENST00000535559.1_Silent_p.H201H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	318					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTGGTTGGCGTGGGCTTGGT	0.617																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(952-954)caC>caT		zinc finger protein 423		G		0,4396		0,0,2198	120	87	98		954	1.9	1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		318/1285	49672109	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672109G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.954C>T	16.37:g.49672109G>A						ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H	p.H318H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1007	-		all_cancers(37;0.0155)	318					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.954C>T	CCDS32445.1																																																																																				0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		77	203	0	0	0	1	0	77	203					A	49672109	G	A	49672109	2	1	28	1	0	0	0	0	0	0	0	1	17951	1136	40	1		1	ZNF423	16	49672109	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	27341894	49672109	40682644	92	3475											
KCTD19	146212	broad.mit.edu	37	chr16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgtgcgggcccccTtcccggggctcaggggagaa	18	13	1	1	rs373584218		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	273					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGGGCCCCCTTCCCGGGGCT	0.642																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(817-819)aAg>aGg		potassium channel tetramerization domain containing 19							63	70	68					16																	67333434		1887	4112	5999	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333434T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.818A>G	16.37:g.67333434T>C	ENSP00000305702:p.Lys273Arg					KCTD19_ENST00000562860.1_5'UTR	p.K273R	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	873	-		Ovarian(137;0.192)	273					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.818A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579355	0.46006	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	5.77	0.91146	.	0.173060	0.41396	D	0.000893	T	0.40670	0.1126	N	0.14661	0.345	0.30590	N	0.761602	B	0.21753	0.06	B	0.19946	0.027	T	0.41466	-0.9507	10	0.34782	T	0.22	-27.9066	12.7641	0.57383	0.0:0.0:0.0:1.0	.	273	Q17RG1	KCD19_HUMAN	R	273	ENSP00000305702:K273R	ENSP00000305702:K273R	K	-	2	0	KCTD19	65890935	0.994000	0.37717	0.982000	0.44146	0.313000	0.28021	3.595000	0.54016	2.326000	0.78906	0.533000	0.62120	AAG		0.642	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		5	587	0	0	0	1	0	5	587					C	67333434	T	C	67333434	3	2	28	1	0	0	0	0	1	0	0	0	8136	1609	56	4	2006	4	KCTD19	16	67333434	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	17661325	67333434	23021319	93	3476											
LRRC36	55282	broad.mit.edu	37	chr16	67397524	67397524	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggactttttattcccttcccCaaccgggaaataaaggattc	7	11	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	203										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCCTTCCCCAACCGGGAAA	0.428																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(607-609)ccC>ccG		leucine rich repeat containing 36							105	97	99					16																	67397524		2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67397524C>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.609C>G	16.37:g.67397524C>G						LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR	p.P203P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	6	628	+		Ovarian(137;0.192)	203					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.609C>G	CCDS32467.1																																																																																				0.428	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		16	420	0	0	0	1	0	16	420					G	67397524	C	G	67397524	2	3	28	1	0	0	0	0	0	0	0	1	9028	581	21	5		5	LRRC36	16	67397524	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	64090	67397524	22957229	94	3477											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	9	16	1	1	rs201277640		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		5	652	0	0	0	1	0	5	652					T	70693984	C	T	70693984	3	4	28	1	0	0	0	0	1	0	0	0	7724	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	3296460	70693984	19660769	95	3478											
HYDIN	54768	broad.mit.edu	37	chr16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcatgtttctgggtaCgtccacccacttgactgtgt	10	13	1	1	rs199890203	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527																																						ENST00000393567.2																			0				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						c.(11269-11271)Gta>Ata		HYDIN, axonemal central pair apparatus protein		C	ILE/VAL	0,3784		0,0,1892	42	43	42		11266	-7.5	0	16		42	6,8214		0,6,4104	yes	missense	HYDIN	NM_032821.2	29	0,6,5996	TT,TC,CC		0.073,0.0,0.05	probably-damaging	3756/5121	70902514	6,11998	1892	4110	6002	SO:0001583	missense	54768							g.chr16:70902514C>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.11269G>A	16.37:g.70902514C>T	ENSP00000377197:p.Val3757Ile						p.V3757I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11419	-		Ovarian(137;0.0654)	3757					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11269G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992987	0.54041	0.0	7.3E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.17	-7.53	0.01336	.	1.450790	0.06162	N	0.676024	T	0.00695	0.0023	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	B	0.37047	0.24	T	0.46414	-0.9193	10	0.33940	T	0.23	.	1.2147	0.01912	0.2597:0.2713:0.0911:0.3779	.	3756	F8WD23	.	I	3757;3756	ENSP00000377197:V3757I	ENSP00000313052:V3756I	V	-	1	0	HYDIN	69460015	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.004000	0.01461	-0.941000	0.03700	-0.294000	0.09567	GTA		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			40	144	0	0	0	1	0	40	144					T	70902514	C	T	70902514	3	4	28	1	0	0	0	0	1	0	0	0	7497	536	19	1	4180	1	HYDIN	16	70902514	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	208530	70902514	19452239	96	3479											
SLC38A8	146167	broad.mit.edu	37	chr16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagaggctccgtttgcGcatgctgcagtagatggaga	17	7	0	3	rs369350968		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	243					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGTTTGCGCATGCTGCAG	0.597																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(727-729)Cgc>Tgc		solute carrier family 38, member 8		T	CYS/ARG	1,4399		0,1,2199	77	60	66		727	-3.1	0	16		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC38A8	NM_001080442.1	180	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	243/436	84056458	2,12998	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056458G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.727C>T	16.37:g.84056458G>A	ENSP00000299709:p.Arg243Cys						p.R243C	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	726	-			243						Missense_Mutation	SNP	ENST00000299709.3	37	c.727C>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	g	13.01	2.108896	0.37242	2.27E-4	1.16E-4	ENSG00000166558	ENST00000299709	T	0.02837	4.14	5.37	-3.06	0.05379	.	0.766355	0.13025	N	0.419743	T	0.05318	0.0141	L	0.59436	1.845	0.21105	N	0.999789	D	0.71674	0.998	P	0.53185	0.72	T	0.16897	-1.0387	10	0.54805	T	0.06	-11.8938	5.2133	0.15329	0.2249:0.0:0.3705:0.4045	.	243	A6NNN8	S38A8_HUMAN	C	243	ENSP00000299709:R243C	ENSP00000299709:R243C	R	-	1	0	SLC38A8	82613959	0.704000	0.27836	0.017000	0.16124	0.002000	0.02628	0.515000	0.22801	-0.448000	0.07128	-0.233000	0.12211	CGC		0.597	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		27	107	0	0	0	1	0	27	107					A	84056458	G	A	84056458	3	1	28	1	0	0	0	0	1	0	0	0	14660	1087	38	1	600	1	SLC38A8	16	84056458	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	13153944	84056458	6298295	97	3480											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2	rs370258691		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177	179	179		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val					ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	p.A445V			O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		7	1239	0	0	0	1	0	7	1239					T	84476138	C	T	84476138	3	4	28	1	0	0	0	0	1	0	0	0	1145	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	419680	84476138	5878615	98	3481											
TP53	7157	broad.mit.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	12	12	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000269305.4	-	5	617	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000420246.2_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E	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	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(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)	CCACAGCTGCACAGGGCAGGT	0.587		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)	ENST00000420246.2		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"		42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(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						c.(427-429)gTg>gAg	Other conserved DNA damage response genes	tumor protein p53							57	56	56					17																	7578502		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578502A>T	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.428T>A	17.37:g.7578502A>T	ENSP00000269305:p.Val143Glu	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_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E	p.V143E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	560	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.428T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333767	0.41297	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.48975	D	0.99973	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.993;0.996;0.999;0.999;0.996	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143E;ENSP00000352610:V143E;ENSP00000269305:V143E;ENSP00000398846:V143E;ENSP00000391127:V143E;ENSP00000391478:V143E;ENSP00000425104:V11E;ENSP00000423862:V50E;ENSP00000424104:V143E	ENSP00000269305:V143E	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		70	147	0	0	0	1	0	70	147					T	7578502	A	T	7578502	3	4	28	1	0	0	0	0	1	0	0	0	16434	159	6	5	870	5	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08		7578502	73616708	99	3482											
MYH1	4619	broad.mit.edu	37	chr17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgcaggtccttcaccGtctgttccaggttcttcttc	9	13	4	0	rs202246274		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTTCACCGTCTGTTCCAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5377-5379)aCg>aTg		myosin, heavy chain 1, skeletal muscle, adult							153	146	149					17																	10398336		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398336G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5378C>T	17.37:g.10398336G>A	ENSP00000226207:p.Thr1793Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.T1793M	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			37	5472	-			1793					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5378C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126300	0.77549	.	.	ENSG00000109061	ENST00000226207	T	0.78126	-1.15	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44483	U	0.000455	D	0.86280	0.5895	H	0.95745	3.715	0.58432	D	0.999997	B	0.29037	0.231	B	0.31869	0.137	D	0.87462	0.2408	10	0.72032	D	0.01	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1793	P12882	MYH1_HUMAN	M	1793	ENSP00000226207:T1793M	ENSP00000226207:T1793M	T	-	2	0	MYH1	10339061	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	9.809000	0.99208	2.616000	0.88540	0.561000	0.74099	ACG		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		164	327	0	0	0	1	0	164	327					A	10398336	G	A	10398336	3	1	28	1	0	0	0	0	1	0	0	0	10070	1145	40	1	457	1	MYH1	17	10398336	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	2819834	10398336	70796874	100	3483											
KIAA0100	9703	broad.mit.edu	37	chr17	26966334	26966334	+	Splice_Site	DEL	T	T	-													tgaaaaagatcagactgaccTttttttcctttgctttagaa							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:26966334delT	ENST00000528896.2	-	11	1302	c.1228delA	c.(1228-1230)aga>ga	p.R410fs	KIAA0100_ENST00000544884.1_Splice_Site_p.R267fs|KIAA0100_ENST00000389003.3_Splice_Site_p.R267fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACTGACCTTTTTTTCCTT	0.438																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.e11+1		KIAA0100							112	119	117					17																	26966334		2203	4300	6503	SO:0001630	splice_region_variant	9703					extracellular region		g.chr17:26966334delT	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1229+1A>-	17.37:g.26966334delT						KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice|KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice	p.R410_splice	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			11	1302	-	Lung NSC(42;0.00431)		410					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Splice_Site	DEL	ENST00000528896.2	37	c.1229_splice	CCDS32595.1																																																																																				0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	Frame_Shift_Del	7	392						7	392	---	---	---	---	-	26966334	T	-	26966334	8	5	28	1	0	1	0	1	0	0	1	0	8184	1623	56	0	5595	0	KIAA0100	17	26966334	Splice_Site	DEL	T	TCGA-3A-A9IH-01A-12D-A397-08	16567998	26966334	54228876	101	3484											
GAS2L2	246176	broad.mit.edu	37	chr17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccccgttccctgcGgggtctgggggaggatgggg	18	13	1	0	rs373436768		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	344					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTTCCCTGCGGGGTCTGGGG	0.627																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1030-1032)Cgc>Tgc		growth arrest-specific 2 like 2		G	CYS/ARG	0,4400		0,0,2200	23	28	26		1030	-4.7	0	17		26	1,8591		0,1,4295	no	missense	GAS2L2	NM_139285.3	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	344/881	34074090	1,12991	2200	4296	6496	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074090G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1030C>T	17.37:g.34074090G>A	ENSP00000254466:p.Arg344Cys					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	p.R344C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1057	-		Ovarian(249;0.17)	344					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1030C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975671	0.18736	0.0	1.16E-4	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.8	-4.68	0.03309	.	1.579220	0.03355	N	0.196716	T	0.20170	0.0485	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35226	-0.9797	10	0.45353	T	0.12	2.3467	11.3093	0.49353	0.6232:0.0:0.3768:0.0	.	344	Q8NHY3	GA2L2_HUMAN	C	344	ENSP00000254466:R344C	ENSP00000254466:R344C	R	-	1	0	GAS2L2	31098203	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.053000	0.03218	-0.258000	0.10820	CGC		0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		105	232	0	0	0	1	0	105	232					A	34074090	G	A	34074090	3	1	28	1	0	0	0	0	1	0	0	0	6275	1116	39	1	1620	1	GAS2L2	17	34074090	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	7107756	34074090	47121120	102	3485											
TADA2A	6871	broad.mit.edu	37	chr17	35830625	35830625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcagtggctccgccgGcaagctgacatgtgagtaat	13	11	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGCTCCGCCGGCAAGCTGACA	0.507																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1015-1017)cgG>cgA		transcriptional adaptor 2A							94	92	93					17																	35830625		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830625G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1017G>A	17.37:g.35830625G>A						TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	p.R339R	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			13	1190	+			339					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.1017G>A	CCDS11319.1																																																																																				0.507	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		5	355	0	0	0	1	0	5	355					A	35830625	G	A	35830625	2	1	28	1	0	0	0	0	0	0	0	1	15562	1190	42	2		2	TADA2A	17	35830625	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1756535	35830625	45364585	103	3486											
FBXO47	494188	broad.mit.edu	37	chr17	37099973	37099973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttcttctatcatttcCtgccaaaccacctgtcctga	6	13	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	270										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTATCATTTCCTGCCAAACCA	0.388																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)caG>caA		F-box protein 47							118	113	115					17																	37099973		2203	4300	6503	SO:0001819	synonymous_variant	494188							g.chr17:37099973C>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.810G>A	17.37:g.37099973C>T							p.Q270Q	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			8	1009	-			270					B2RTZ4	Silent	SNP	ENST00000378079.2	37	c.810G>A	CCDS32639.1																																																																																				0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		89	342	0	0	0	1	0	89	342					T	37099973	C	T	37099973	2	4	28	1	0	0	0	0	0	0	0	1	5781	680	24	2		2	FBXO47	17	37099973	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1269348	37099973	44095237	104	3487											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			6	392	0	0	0	1	0	6	392					A	38240101	G	A	38240101	3	1	28	1	0	0	0	0	1	0	0	0	15925	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1140128	38240101	42955109	105	3488											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctgccgccccagctgctgtCagaccacctgttgcaggacc	11	17	1	1	rs200397258	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	31	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632													c|||	90	0.0179712	0.0416	0.013	5008	,	,		15484	0.0198		0.004	False		,,,				2504	0.002					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(91-93)Cag>Gag		keratin associated protein 4-7							16	23	21					17																	39240549		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240549C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.91C>G	17.37:g.39240549C>G	ENSP00000375236:p.Gln31Glu						p.Q31E	NM_033061.3	NP_149050.3					1	91	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.91C>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.541	-0.541861	0.04053	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00597	6.31	3.51	-5.02	0.02982	.	0.616411	0.13532	U	0.380865	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.39722	-0.9600	9	0.27785	T	0.31	.	7.7095	0.28669	0.3855:0.2289:0.3856:0.0	.	31	Q9BYR0	KRA47_HUMAN	E	31	ENSP00000375236:Q31E	ENSP00000375236:Q31E	Q	+	1	0	KRTAP4-9;KRTAP4-7	36494075	0.065000	0.20965	0.000000	0.03702	0.181000	0.23173	-0.407000	0.07178	-1.274000	0.02421	-0.505000	0.04504	CAG		0.632	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			16	182	0	0	0	1	0	16	182					G	39240549	C	G	39240549	3	3	28	1	0	0	0	0	1	0	0	0	8586	827	29	5	93	5	KRTAP4-7	17	39240549	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1000448	39240549	41954661	106	3489											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcggcccaaccatgtgcGtggcaacgtggtggtcacca	13	13	1	0	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	261	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACCATGTGCGTGGCAACGTG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0					ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(781-783)cGt>cAt		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111	97	102		782	4.4	1	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	WFIKKN2	NM_175575.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	261/577	48917431	1,13005	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917431G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.782G>A	17.37:g.48917431G>A	ENSP00000311184:p.Arg261His					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	p.R261H	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1310	+			261			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.782G>A	CCDS11575.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.24	3.580087	0.65992	2.27E-4	0.0	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.69806	-0.43;-0.43	5.44	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360711	0.29126	N	0.013070	T	0.63803	0.2542	N	0.21448	0.665	0.43930	D	0.996584	D	0.54772	0.968	P	0.55871	0.786	T	0.57522	-0.7797	10	0.15952	T	0.53	.	15.6499	0.77084	0.0:0.1374:0.8626:0.0	.	261	Q8TEU8	WFKN2_HUMAN	H	168;261	ENSP00000405889:R168H;ENSP00000311184:R261H	ENSP00000311184:R261H	R	+	2	0	WFIKKN2	46272430	0.157000	0.22836	0.977000	0.42913	0.991000	0.79684	1.787000	0.38704	2.533000	0.85409	0.651000	0.88453	CGT		0.617	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		4	248	0	0	0	1	0	4	248					A	48917431	G	A	48917431	3	1	28	1	0	0	0	0	1	0	0	0	17413	1145	40	1	788	1	WFIKKN2	17	48917431	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	9676882	48917431	32277779	107	3490											
BPTF	2186	broad.mit.edu	37	chr17	65899951	65899951	+	Frame_Shift_Del	DEL	A	A	-													gagaagaaaaggagaaagtcAaaaaaaaagagaagaaacag							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:65899951delA	ENST00000321892.4	+	10	3029	c.2968delA	c.(2968-2970)aaafs	p.K992fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	992					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ggagaaagtcaaaaaaaaaga	0.338																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2968-2970)aafs		bromodomain PHD finger transcription factor							59	63	62					17																	65899951		2203	4300	6503	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899951delA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2968delA	17.37:g.65899951delA	ENSP00000315454:p.Lys992fs					BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs	p.K992fs			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	3029	+	all_cancers(12;6e-11)		992					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.2968delA																																																																																					0.338	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	230						7	230	---	---	---	---	-	65899951	A	-	65899951	7	5	28	1	0	1	0	1	0	0	0	0	1499	131	5	0	3006	0	BPTF	17	65899951	Frame_Shift_Del	DEL	A	TCGA-3A-A9IH-01A-12D-A397-08	16982520	65899951	15295259	108	3491											
LAMA1	284217	broad.mit.edu	37	chr18	7034490	7034491	+	Frame_Shift_Ins	INS	-	-	T													tacatacctgtaaagagccaINStttttgcagaattgtagttg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:7034490_7034491insT	ENST00000389658.3	-	14	2131_2132	c.2038_2039insA	c.(2038-2040)atgfs	p.M680fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	680	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)			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)				GTAAAGAGCCATTTTTGCAGAA	0.361																																						ENST00000389658.3																			0				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						c.(2038-2040)ggcfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	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.chr18:7034490_7034491insT	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.2039dupA	18.37:g.7034495_7034495dupT	ENSP00000374309:p.Met680fs						p.G680fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	2131_2132	-		Colorectal(10;0.172)	680			Laminin IV type A 1.			Frame_Shift_Ins	INS	ENST00000389658.3	37	c.2038_2039insA	CCDS32787.1																																																																																				0.361	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		8	203						8	203	---	---	---	---	T	7034491	-	T	7034490	7	5	28	1	0	1	1	0	0	0	0	0	8636	217	8	0	7388	0	LAMA1	18	7034490	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08		7034490	71042758	109	3492											
MIB1	57534	broad.mit.edu	37	chr18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatattgctacctgtTctttatgttctccacgtgtc	8	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTACCTGTTCTTTATGTTC	0.343																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(2521-2523)Tct>Cct		mindbomb E3 ubiquitin protein ligase 1							166	154	158					18																	19429284		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429284T>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2521T>C	18.37:g.19429284T>C	ENSP00000261537:p.Ser841Pro					MIB1_ENST00000578646.1_3'UTR	p.S841P	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2785	+			841					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2521T>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.554016	0.65425	.	.	ENSG00000101752	ENST00000261537	T	0.79554	-1.28	5.33	5.33	0.75918	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.77103	2.36	0.80722	D	1	P	0.49961	0.93	P	0.62184	0.899	D	0.88191	0.2877	10	0.40728	T	0.16	-11.9712	15.3214	0.74124	0.0:0.0:0.0:1.0	.	841	Q86YT6	MIB1_HUMAN	P	841	ENSP00000261537:S841P	ENSP00000261537:S841P	S	+	1	0	MIB1	17683282	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.019000	0.59389	0.477000	0.44152	TCT		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		68	388	0	0	0	1	0	68	388					C	19429284	T	C	19429284	3	2	28	1	0	0	0	0	1	0	0	0	9607	1783	62	4	2587	4	MIB1	18	19429284	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	12394794	19429284	58647964	110	3493											
SMAD4	4089	broad.mit.edu	37	chr18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcctcatgtgatctatgCccgtctctggaggtggcctg	11	11	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	96	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGATCTATGCCCGTCTCTGG	0.368																																						ENST00000342988.3																			40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(286-288)gCc>gAc		SMAD family member 4							155	142	147					18																	48575093		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575093C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.287C>A	18.37:g.48575093C>A	ENSP00000341551:p.Ala96Asp					SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D	p.A96D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	825	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	96			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.287C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107210	0.94292	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78246	-1.16;-1.16;-1.16	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88383	0.3003	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	96	Q13485	SMAD4_HUMAN	D	96	ENSP00000409551:A96D;ENSP00000341551:A96D;ENSP00000381452:A96D	ENSP00000341551:A96D	A	+	2	0	SMAD4	46829091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.064000	0.71169	2.463000	0.83235	0.585000	0.79938	GCC		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		35	154	1	0	2.2871e-25	1	2.50073e-25	35	154					A	48575093	C	A	48575093	3	1	28	1	0	0	0	0	1	0	0	0	14810	739	26	3	293	3	SMAD4	18	48575093	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	29145809	48575093	29502155	111	3494											
DCC	1630	broad.mit.edu	37	chr18	50450207	50450207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttacctggttacgaggCgaggaagtcatccaactcag	11	9	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	276	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTACGAGGCGAGGAAGTCA	0.373																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(826-828)ggC>ggT		deleted in colorectal carcinoma							123	101	108					18																	50450207		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450207C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.828C>T	18.37:g.50450207C>T						DCC_ENST00000412726.1_Silent_p.G124G	p.G276G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1444	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	276			Ig-like C2-type 3.			Silent	SNP	ENST00000442544.2	37	c.828C>T	CCDS11952.1																																																																																				0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		85	232	0	0	0	1	0	85	232					T	50450207	C	T	50450207	2	4	28	1	0	0	0	0	0	0	0	1	4293	755	27	1		1	DCC	18	50450207	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1875114	50450207	27627041	112	3495											
ZADH2	284273	broad.mit.edu	37	chr18	72913980	72913980	+	Frame_Shift_Del	DEL	T	T	-													gctgctgctgtcaccaaaacTtttttcccttccgacagtcc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:72913980delT	ENST00000322342.3	-	2	814	c.525delA	c.(523-525)aaafs	p.K175fs	ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	175						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TCACCAAAACTTTTTTCCCTT	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(523-525)aafs		zinc binding alcohol dehydrogenase domain containing 2							269	285	280					18																	72913980		2203	4300	6503	SO:0001589	frameshift_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913980delT	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.525delA	18.37:g.72913980delT	ENSP00000323678:p.Lys175fs					ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	p.K175fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	814	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	175					A8KA15|B4DZ91	Frame_Shift_Del	DEL	ENST00000322342.3	37	c.525delA	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		9	1641						9	1641	---	---	---	---	-	72913980	T	-	72913980	7	5	28	1	0	1	0	1	0	0	0	0	17565	1606	56	0	612	0	ZADH2	18	72913980	Frame_Shift_Del	DEL	T	TCGA-3A-A9IH-01A-12D-A397-08	22463773	72913980	5163268	113	3496											
STK11	6794	broad.mit.edu	37	chr19	1221313	1221314	+	Frame_Shift_Ins	INS	-	-	C													gccatcccgggcgactgtggINSccccccgctctctgacctgc					rs121913321|rs373021819		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:1221313_1221314insC	ENST00000326873.7	+	6	2009_2010	c.836_837insC	c.(835-840)ggccccfs	p.GP279fs		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.G279F(1)|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)		GGCGACTGTGGCCCCCCGCTCT	0.604		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		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"		26	Whole gene deletion(20)|Deletion - Frameshift(3)|Unknown(2)|Substitution - Missense(1)	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)	cervix(14)|lung(7)|large_intestine(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(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						c.(835-837)gccfs		serine/threonine kinase 11																																				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.chr19:1221313_1221314insC	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.842dupC	19.37:g.1221319_1221319dupC	ENSP00000324856:p.Gly279fs	TSP Lung(3;<1E-08)					p.A279fs	NM_000455.4	NP_000446.1	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	2009_2010	+		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_Ins	INS	ENST00000326873.7	37	c.836_837insC	CCDS45896.1																																																																																				0.604	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		25	41						25	41	---	---	---	---	C	1221314	-	C	1221313	7	5	28	1	0	1	1	0	0	0	0	0	15339	1203	42	0	858	0	STK11	19	1221313	Frame_Shift_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08		1221313	57907670	114	3497											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	271						7	271	---	---	---	---	-	11038364	GCT	-	11038362	7	5	28	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-3A-A9IH-01A-12D-A397-08	9817049	11038362	48090621	115	3498											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	365	0	0	0	1	0	4	365					C	20807460	T	C	20807460	3	2	28	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	9769098	20807460	38321523	116	3499											
LIN37	126393	broad.mit.edu	37	chr19	36244964	36244964	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgatgtgtacaagctgcCgccacccacacccccggggc	11	17	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:36244964C>T	ENST00000592984.1	-	0	1634				AC002398.11_ENST00000591091.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.P164L			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACAAGCTGCCGCCACCCACA	0.632																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(490-492)cCg>cTg		lin-37 homolog (C. elegans)							52	60	58					19																	36244964		2002	4168	6170	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36244964C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36244964C>T						AC002398.9_ENST00000591613.2_3'UTR	p.P164L	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	855	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		164			Pro-rich.		O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.491C>T	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589252	0.86851	.	.	ENSG00000188223	ENST00000301159	D	0.82081	-1.57	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91683	0.7371	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92687	0.6163	10	0.87932	D	0	-26.5281	15.6642	0.77213	0.0:1.0:0.0:0.0	.	164	Q96GY3	LIN37_HUMAN	L	164	ENSP00000301159:P164L	ENSP00000301159:P164L	P	+	2	0	LIN37	40936804	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.592000	0.67543	2.670000	0.90874	0.655000	0.94253	CCG		0.632	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		15	512	0	0	0	1	0	15	512					T	36244964	C	T	36244964	1	4	28	0	1	0	0	0	0	0	0	0	8840	652	23	1		1	LIN37	19	36244964	IGR	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	15437504	36244964	22884019	117	3500											
ZNF569	148266	broad.mit.edu	37	chr19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgctcctttctcataAggcatttcacattattatga	4	10	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CTTTCTCATAAGGCATTTCAC	0.333																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(475-477)cTt>cAt		zinc finger protein 569							87	84	85					19																	37905084		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905084A>T	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.476T>A	19.37:g.37905084A>T	ENSP00000325018:p.Leu159His					ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H|ZNF569_ENST00000392150.2_5'UTR	p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1033	-			159					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.476T>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332860	0.01298	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.37	1.09	0.20402	.	1.309050	0.05886	N	0.627427	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	.	2.6069	0.04880	0.4596:0.0:0.1298:0.4106	.	159	Q5MCW4	ZN569_HUMAN	H	159	ENSP00000325018:L159H	ENSP00000325018:L159H	L	-	2	0	ZNF569	42596924	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	0.045000	0.14013	0.060000	0.16281	0.482000	0.46254	CTT		0.333	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		42	240	0	0	0	1	0	42	240					T	37905084	A	T	37905084	3	4	28	1	0	0	0	0	1	0	0	0	18053	72	3	5	1588	5	ZNF569	19	37905084	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	1660120	37905084	21223899	118	3501											
PNMAL1	55228	broad.mit.edu	37	chr19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-													gagacagggcccaagctcacCttcttcttcttcctcatggg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1096-1098)del		paraneoplastic Ma antigen family-like 1																																				SO:0001651	inframe_deletion	55228							g.chr19:46973195_46973197delCTT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1096_1098delAAG	19.37:g.46973204_46973206delCTT	ENSP00000318131:p.Lys366del					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice	p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1401_1403	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	366					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	In_Frame_Del	DEL	ENST00000313683.10	37	c.1096_1098delAAG	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		7	1066						7	1066	---	---	---	---	-	46973197	CTT	-	46973195	7	5	28	1	0	1	0	1	0	0	0	0	12199	695	24	0	251	0	PNMAL1	19	46973195	In_Frame_Del	DEL	CTT	TCGA-3A-A9IH-01A-12D-A397-08	9068111	46973195	12155788	119	3502											
ZNF175	7728	broad.mit.edu	37	chr19	52091537	52091537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgactgtgggaaatcGttcagtaagaaaccacaact	9	9	1	2	rs551032620		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.0	False		,,,				2504	0.001					ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1951-1953)tcG>tcA		zinc finger protein 175							83	77	79					19																	52091537		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091537G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1953G>A	19.37:g.52091537G>A						ZNF175_ENST00000436511.2_Intron	p.S651S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2311	+		all_neural(266;0.0299)	651					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1953G>A	CCDS12837.1																																																																																				0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		70	259	0	0	0	1	0	70	259					A	52091537	G	A	52091537	2	1	28	1	0	0	0	0	0	0	0	1	17798	1132	40	1		1	ZNF175	19	52091537	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	5118342	52091537	7037446	120	3503											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	377						7	377	---	---	---	---	-	54675749	TCC	-	54675747	7	5	28	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-3A-A9IH-01A-12D-A397-08	2584210	54675747	4453236	121	3504											
PEG3	5178	broad.mit.edu	37	chr19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcacgttcacgttcaCgttcatgttcacgctcatta	7	14	6	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					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.R598H(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)		ttcacgttcacgttcatgttc	0.458																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.R598H(2)	ovary(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						c.(1792-1794)cGt>cAt		paternally expressed 3							106	83	91					19																	57328017		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.chr19:57328017C>T	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.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His					PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.R598H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2156	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	598					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1793G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	211	0	0	0	1	0	5	211					T	57328017	C	T	57328017	3	4	28	1	0	0	0	0	1	0	0	0	11762	536	19	1	2977	1	PEG3	19	57328017	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	2652270	57328017	1800966	122	3505											
ZNF551	90233	broad.mit.edu	37	chr19	58199361	58199361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttttagccaaagtgctaGcctcattcaacaccagagag	8	11	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:58199361G>T	ENST00000282296.5	+	3	1903	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAAGTGCTAGCCTCATTCAA	0.458																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1717-1719)aGc>aTc		zinc finger protein 551							83	83	83					19																	58199361		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199361G>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1718G>T	19.37:g.58199361G>T	ENSP00000282296:p.Ser573Ile					ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.S573I	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1903	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	573					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1718G>T	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889440|1.889440	0.33348|0.33348	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.79|2.79	-5.0|-5.0	0.03001|0.03001	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.32467	.|0.372	.|B	.|0.35727	.|0.209	T|T	0.27365|0.27365	-1.0076|-1.0076	6|8	0.33141|0.48119	T|T	0.24|0.1	.|.	1.0859|1.0859	0.01652|0.01652	0.2596:0.2992:0.2915:0.1497|0.2596:0.2992:0.2915:0.1497	.|.	.|573	.|Q7Z340	.|ZN551_HUMAN	D|I	15|573;557;356	.|.	ENSP00000437781:A15D|ENSP00000282296:S557I	A|S	-|+	2|2	0|0	AC004017.1|ZNF551	62891173|62891173	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-3.227000|-3.227000	0.00549|0.00549	-0.968000|-0.968000	0.03578|0.03578	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.458	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		5	424	1	0	0.184627	1	0.187453	5	424					T	58199361	G	T	58199361	3	4	28	1	0	0	0	0	1	0	0	0	18036	971	34	3	1680	3	ZNF551	19	58199361	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	871344	58199361	929622	123	3506											
PAX1	5075	broad.mit.edu	37	chr20	21687488	21687488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggcgcagcccggaccGtacgaggcaagtaagcagcc	14	14	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P209P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCCGGACCGTACGAGGCAA	0.642																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(697-699)ccG>ccA		paired box 1							37	44	41					20																	21687488		2202	4299	6501	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687488G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.699G>A	20.37:g.21687488G>A						PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron	p.P233P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	753	+			233					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.699G>A	CCDS13146.2																																																																																				0.642	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	288	0	0	0	1	0	5	288					A	21687488	G	A	21687488	2	1	28	1	0	0	0	0	0	0	0	1	11520	1132	40	1		1	PAX1	20	21687488	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		21687488	41338032	124	3507											
BCAS1	8537	broad.mit.edu	37	chr20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgagttcgtgtccaccGtggcctgctctgtgcactgg	14	12	1	1	rs201134866	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	530						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)			CGTGTCCACCGTGGCCTGCTC	0.562													G|||	6	0.00119808	0.0	0.0	5008	,	,		18474	0.006		0.0	False		,,,				2504	0.0					ENST00000395961.3																			0				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						c.(1588-1590)aCg>aTg		breast carcinoma amplified sequence 1							240	187	205					20																	52570062		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570062G>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.1589C>T	20.37:g.52570062G>A	ENSP00000379290:p.Thr530Met					BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M	p.T530M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1755	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		530					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1589C>T	CCDS13444.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	13.51|13.51	2.259581|2.259581	0.39995|0.39995	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.32515	.|2.15;2.41;2.45;2.41;1.45	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	.|1.843200	.|0.02444	.|N	.|0.084842	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;D;D	.|0.64830	.|0.067;0.209;0.067;0.239;0.994;0.994	.|B;B;B;B;P;P	.|0.51833	.|0.016;0.055;0.016;0.057;0.681;0.681	T|T	0.50448|0.50448	-0.8827|-0.8827	5|10	.|0.44086	.|T	.|0.13	2.3235|2.3235	4.623|4.623	0.12465|0.12465	0.5131:0.2359:0.1717:0.0793|0.5131:0.2359:0.1717:0.0793	.|.	.|530;196;539;452;530;530	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|M	193|401;539;330;530;452;196	.|ENSP00000396361:T401M;ENSP00000360495:T539M;ENSP00000379290:T530M;ENSP00000360490:T452M;ENSP00000409956:T196M	.|ENSP00000360490:T452M	R|T	-|-	1|2	2|0	BCAS1|BCAS1	52003469|52003469	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.697000|-1.697000	0.01910|0.01910	-2.036000|-2.036000	0.00922|0.00922	-0.228000|-0.228000	0.12330|0.12330	CGG|ACG		0.562	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		5	377	0	0	0	1	0	5	377					A	52570062	G	A	52570062	3	1	28	1	0	0	0	0	1	0	0	0	1351	1145	40	1	173	1	BCAS1	20	52570062	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	30882574	52570062	10455458	125	3508											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	221						7	221	---	---	---	---	-	27394184	GTG	-	27394182	7	5	28	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-3A-A9IH-01A-12D-A397-08		27394182	20735713	126	3509											
CABIN1	23523	broad.mit.edu	37	chr22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcaagcgctgattgtgCgggagaaggagccggacctg	18	8	0	3	rs200916276	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	253					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATTGTGCGGGAGAAGGA	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19052	0.001		0.0	False		,,,				2504	0.001					ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(757-759)Cgg>Tgg		calcineurin binding protein 1							114	99	104					22																	24447387		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24447387C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.757C>T	22.37:g.24447387C>T	ENSP00000381364:p.Arg253Trp					CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	p.R253W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			8	1142	+			253					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.757C>T	CCDS13823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.86	3.492173	0.64074	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T	0.62364	0.38;0.03;0.38;0.03	5.32	3.11	0.35812	.	0.176588	0.51477	D	0.000099	T	0.65396	0.2687	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.987	P;P;B	0.51945	0.685;0.606;0.394	T	0.68526	-0.5385	10	0.72032	D	0.01	.	13.6165	0.62110	0.2825:0.7175:0.0:0.0	.	208;253;253	C9J068;F5H5W5;Q9Y6J0	.;.;CABIN_HUMAN	W	208;253;208;253;253	ENSP00000394209:R208W;ENSP00000263119:R253W;ENSP00000412389:R208W;ENSP00000381364:R253W	ENSP00000263119:R253W	R	+	1	2	CABIN1	22777387	1.000000	0.71417	0.517000	0.27799	0.631000	0.37964	2.925000	0.48884	0.672000	0.31204	0.551000	0.68910	CGG		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		5	289	0	0	0	1	0	5	289					T	24447387	C	T	24447387	3	4	28	1	0	0	0	0	1	0	0	0	2535	759	27	1	783	1	CABIN1	22	24447387	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		24447387	26857179	127	3510											
MYO18B	84700	broad.mit.edu	37	chr22	26173732	26173732	+	Silent	SNP	G	G	A													gtggggatggcaggcagtgtGgatggcagggtctcaggtat							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000407587.2	+	8	2221	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000536101.1_Silent_p.V684V|MYO18B_ENST00000335473.7_Silent_p.V684V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	684	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CAGGCAGTGTGGATGGCAGGG	0.592																																						ENST00000335473.7																			0				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						c.(2050-2052)gtG>gtA		myosin XVIIIB							91	102	98					22																	26173732		2103	4223	6326	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173732G>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.2052G>A	22.37:g.26173732G>A						MYO18B_ENST00000407587.2_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V	p.V684V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2302	+			684			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2052G>A																																																																																					0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		56	343	0	0	0	1	0	56	343					A	26173732	G	A	26173732	2	1	28	1	0	0	0	0	0	0	0	1	10107	1335	47	2		2	MYO18B	22	26173732	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1726345	26173732	25130834	128	3511	21	2									
MYO18B	84700	broad.mit.edu	37	chr22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C													tggggatggcaggcagtgtgGatggcagggtctcaggtatg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000407587.2	+	8	2222	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H|MYO18B_ENST00000335473.7_Missense_Mutation_p.D685H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	685	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGGCAGTGTGGATGGCAGGGT	0.587																																						ENST00000335473.7																			0				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						c.(2053-2055)Gat>Cat		myosin XVIIIB							91	102	98					22																	26173733		2100	4223	6323	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173733G>C	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.2053G>C	22.37:g.26173733G>C	ENSP00000386096:p.Asp685His					MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H	p.D685H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2303	+			685			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117718	0.37339	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87491	-2.26;-2.26;-2.26	5.41	4.39	0.52855	Myosin head, motor domain (2);	0.199793	0.41938	D	0.000795	D	0.91355	0.7273	L	0.58101	1.795	0.40199	D	0.977491	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.75484	0.962;0.986;0.976;0.976	D	0.91923	0.5549	10	0.59425	D	0.04	.	13.2306	0.59941	0.0762:0.0:0.9238:0.0	.	198;685;685;685	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	685	ENSP00000441229:D685H;ENSP00000334563:D685H;ENSP00000386096:D685H	ENSP00000334563:D685H	D	+	1	0	MYO18B	24503733	1.000000	0.71417	0.993000	0.49108	0.145000	0.21501	3.357000	0.52277	1.282000	0.44496	0.655000	0.94253	GAT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		56	337	0	0	0	1	0	56	337					C	26173733	G	C	26173733	3	2	28	1	0	0	0	0	1	0	0	0	10107	1174	41	5	2079	5	MYO18B	22	26173733	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1	26173733	25130833	129	3512	21	2									
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126	120	122					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		11	788						11	788	---	---	---	---	-	43218401	T	-	43218401	7	5	28	1	0	1	0	1	0	0	0	0	851	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-3A-A9IH-01A-12D-A397-08	17044668	43218401	8086165	130	3513											
BEND2	139105	broad.mit.edu	37	chrX	18192194	18192194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gattatcagtggaaggttctCgcattccttcagggatagca	11	8	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:18192194C>G	ENST00000380033.4	-	12	2069	c.1937G>C	c.(1936-1938)cGa>cCa	p.R646P	BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	646										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGAAGGTTCTCGCATTCCTTC	0.383																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1936-1938)cGa>cCa		BEN domain containing 2							120	91	101					X																	18192194		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192194C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1937G>C	X.37:g.18192194C>G	ENSP00000369372:p.Arg646Pro					BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	p.R646P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			12	2069	-			646					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1937G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	3.692	-0.063396	0.07273	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.25250	1.81;1.83	3.45	-6.89	0.01660	.	4.392740	0.00531	N	0.000217	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.228	B;B	0.21151	0.033;0.033	T	0.10109	-1.0644	10	0.35671	T	0.21	3.0061	6.5327	0.22336	0.2703:0.5292:0.0:0.2004	.	555;646	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	P	646;555	ENSP00000369372:R646P;ENSP00000369369:R555P	ENSP00000369369:R555P	R	-	2	0	BEND2	18102115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.213000	0.01224	-2.640000	0.00429	-0.370000	0.07254	CGA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		74	261	0	0	0	1	0	74	261					G	18192194	C	G	18192194	3	3	28	1	0	0	0	0	1	0	0	0	1399	884	31	5	500	5	BEND2	23	18192194	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		18192194	137078366	131	3514											
DMD	1756	broad.mit.edu	37	chrX	32591647	32591647	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctagaaagtacatacGgccagtttttgaagacttga	10	6	0	4	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	604					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTACATACGGCCAGTTTTT	0.308													G|||	3	0.000794702	0.0023	0.0	3775	,	,		12424	0.0		0.0	False		,,,				2504	0.0					ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.e15+1		dystrophin		G	,,,,	4,3827		0,3,1,1627,570	87	79	82		1788,1812,1443,1800,1443	-4.1	0	X	dbSNP_134	82	0,6727		0,0,0,2428,1871	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	0,3,1,4055,2441	AA,AG,A,GG,G		0.0,0.1044,0.0379	,,,,	596/3678,604/3686,481/3563,600/3682,481/3563	32591647	4,10554	2201	4299	6500	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591647G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1812+1C>T	X.37:g.32591647G>A						DMD_ENST00000378677.2_Splice_Site_p.A600_splice|DMD_ENST00000288447.4_Splice_Site_p.A596_splice	p.A604_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			15	2018	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	604					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.1812_splice	CCDS14233.1																																																																																				0.308	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Silent	72	206	0	0	0	1	0	72	206					A	32591647	G	A	32591647	5	1	28	1	0	0	0	0	0	0	1	0	4596	1130	39	1	9748	1	DMD	23	32591647	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	14399453	32591647	122678913	132	3515											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	700	0	0	0	1	0	8	700					G	37028425	A	G	37028425	3	3	28	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	4436778	37028425	118242135	133	3516											
ZXDB	158586	broad.mit.edu	37	chrX	57619818	57619818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctgaaaattcacctgcGgagtcacaccggcgagagac	12	11	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC. {ECO:0000250}.				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)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1336-1338)cGg>cAg		zinc finger, X-linked, duplicated B							63	61	62					X																	57619818		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619818G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1337G>A	X.37:g.57619818G>A	ENSP00000364023:p.Arg446Gln						p.R446Q	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	1550	+			446			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1337G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		109	324	0	0	0	1	0	109	324					A	57619818	G	A	57619818	3	1	28	1	0	0	0	0	1	0	0	0	18304	1116	39	1	1339	1	ZXDB	23	57619818	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	20591393	57619818	97650742	134	3517											
NRK	203447	broad.mit.edu	37	chrX	105183982	105183982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacagaggaagcctgcAaagctattgataagttaaca	10	6	0	4			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000243300.9	+	23	4219	c.3916A>G	c.(3916-3918)Aaa>Gaa	p.K1306E	NRK_ENST00000428173.2_Missense_Mutation_p.K1307E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1306	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)			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						GGAAGCCTGCAAAGCTATTGA	0.388										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.(3919-3921)Aaa>Gaa		Nik related kinase							80	74	76					X																	105183982		1865	4093	5958	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105183982A>G	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.3916A>G	X.37:g.105183982A>G	ENSP00000434830:p.Lys1306Glu	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.K1306E	p.K1307E			Q7Z2Y5	NRK_HUMAN			23	4222	+			1306			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3919A>G		.	.	.	.	.	.	.	.	.	.	A	13.34	2.206676	0.39003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04758	3.56;3.56	4.96	4.96	0.65561	Citron-like (2);	0.000000	0.49916	D	0.000135	T	0.04815	0.0130	L	0.36672	1.1	0.80722	D	1	B;P	0.42078	0.372;0.77	B;B	0.40782	0.053;0.34	T	0.38908	-0.9639	10	0.54805	T	0.06	.	5.4621	0.16622	0.8038:0.0:0.1962:0.0	.	974;1306	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	1306;1307	ENSP00000434830:K1306E;ENSP00000438378:K1307E	ENSP00000434830:K1306E	K	+	1	0	NRK	105070638	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.190000	0.50973	1.943000	0.56356	0.441000	0.28932	AAA		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	55	0	0	0	1	0	4	55					G	105183982	A	G	105183982	3	3	28	1	0	0	0	0	1	0	0	0	10697	131	5	4	4006	4	NRK	23	105183982	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	47564164	105183982	50086578	135	3518											
USP26	83844	broad.mit.edu	37	chrX	132159668	132159668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggatacctaacacccGcatatcatcgtaagtgaacc	6	14	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	861	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTAACACCCGCATATCATCG	0.438																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2581-2583)Cgg>Tgg		ubiquitin specific peptidase 26							139	117	125					X																	132159668		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159668G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2581C>T	X.37:g.132159668G>A	ENSP00000423390:p.Arg861Trp					USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W	p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	3050	-	Acute lymphoblastic leukemia(192;0.000127)		861					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2581C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844003	0.51164	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.33216	1.42;1.42;1.42	3.91	1.06	0.20224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.646050	0.04079	N	0.309366	T	0.28200	0.0696	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.51453	0.67	T	0.21827	-1.0234	10	0.66056	D	0.02	5.8655	6.3523	0.21383	0.0:0.3293:0.3298:0.341	.	861	Q9BXU7	UBP26_HUMAN	W	861	ENSP00000359869:R861W;ENSP00000423390:R861W;ENSP00000384360:R861W	ENSP00000359869:R861W	R	-	1	2	USP26	131987334	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	0.920000	0.28705	0.086000	0.17137	-0.324000	0.08512	CGG		0.438	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		5	339	0	0	0	1	0	5	339					A	132159668	G	A	132159668	3	1	28	1	0	0	0	0	1	0	0	0	17111	1086	38	1	163	1	USP26	23	132159668	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	26975686	132159668	23110892	136	3519											
FAM58A	92002	broad.mit.edu	37	chrX	152861517	152861517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctcttccactttgcCggccaagtaaattgaagaca	9	11	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:152861517C>T	ENST00000406277.2	-	4	337	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	81					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.G47S(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTGCCGGCCAAGTAA	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		15638	0.001		0.0	False		,,,				2504	0.0					ENST00000406277.2																			2	Substitution - Missense(2)	p.G47S(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.(235-237)Ggc>Agc		family with sequence similarity 58, member A							162	139	147					X																	152861517		2203	4300	6503	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152861517C>T	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"cyclin M"	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.235G>A	X.37:g.152861517C>T	ENSP00000384396:p.Gly79Ser					FAM58A_ENST00000370175.4_5'UTR	p.G79S	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN			4	337	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		81					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.235G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545785|4.545785	0.86022|0.86022	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173;ENST00000428722|ENST00000429336	T|.	0.38077|.	1.16|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52549|0.52549	0.1741|0.1741	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	P;D|.	0.54772|.	0.917;0.968|.	B;P|.	0.50082|.	0.217;0.63|.	T|T	0.49293|0.49293	-0.8955|-0.8955	10|5	0.20519|.	T|.	0.43|.	-43.1794|-43.1794	16.168|16.168	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;81|.	Q8N1B3-2;Q8N1B3|.	.;FA58A_HUMAN|.	S|Q	47;79;47;79;79;47|2	ENSP00000384396:G79S|.	ENSP00000276345:G79S|.	G|R	-|-	1|2	0|0	FAM58A|FAM58A	152514711|152514711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	5.353000|5.353000	0.66034|0.66034	2.156000|2.156000	0.67533|0.67533	0.594000|0.594000	0.82650|0.82650	GGC|CGG		0.527	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		5	671	0	0	0	1	0	5	671					T	152861517	C	T	152861517	3	4	28	1	0	0	0	0	1	0	0	0	5615	652	23	1	521	1	FAM58A	23	152861517	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20701849	152861517	2409043	137	3520											
MECP2	4204	broad.mit.edu	37	chrX	153363100	153363102	+	5'UTR	DEL	GCG	GCG	-													ctcctcctcctccgctcggcGcggcggcggcggcggcggcc					rs587783129		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:153363100_153363102delGCG	ENST00000303391.6	-	0	110_112				MECP2_ENST00000453960.2_In_Frame_Del_p.7_8AA>A|MECP2_ENST00000407218.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(19-24)gcg>gc		methyl CpG binding protein 2 (Rett syndrome)			,	87,803		9,38,31,307,151					,	4	1			5	256,2106		24,107,101,720,559	no	utr-5,coding	MECP2	NM_004992.3,NM_001110792.1	,	33,145,132,1027,710	A1A1,A1R,A1,RR,R		10.8383,9.7753,10.5474	,	,		343,2909				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363100_153363102delGCG	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-140CGC>-	X.37:g.153363109_153363111delGCG						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.AA7del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	75_77	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.21_23delCGC	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		7	79						7	79	---	---	---	---	-	153363102	GCG	-	153363100	6	5	28	0	1	1	0	1	0	0	0	0	9464	1087	38	0		0	MECP2	23	153363100	5'UTR	DEL	GCG	TCGA-3A-A9IH-01A-12D-A397-08	501583	153363100	1907460	138	3521											
PHF13	148479	broad.mit.edu	37	chr1	6681519	6681519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcatgaagccatttgCcggccgccccatgatcgagt	10	14	1	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:6681519C>T	ENST00000377648.4	+	4	1107	c.725C>T	c.(724-726)gCc>gTc	p.A242V	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	242	Interaction with trimethylated histone H3 (H3K4).				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)			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)		AAGCCATTTGCCGGCCGCCCC	0.507																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(724-726)gCc>gTc		PHD finger protein 13							63	62	63					1																	6681519		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.chr1:6681519C>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.725C>T	1.37:g.6681519C>T	ENSP00000366876:p.Ala242Val					PHF13_ENST00000495385.1_Intron	p.A242V	NM_153812.2	NP_722519.2	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)	4	1107	+	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)	242			Interaction with trimethylated histone H3 (H3K4).		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.725C>T	CCDS85.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405517	0.96051	.	.	ENSG00000116273	ENST00000377648	T	0.63580	-0.05	5.59	5.59	0.84812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.73430	2.235	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.76523	-0.2928	10	0.33940	T	0.23	-5.6521	18.5834	0.91180	0.0:1.0:0.0:0.0	.	242	Q86YI8	PHF13_HUMAN	V	242	ENSP00000366876:A242V	ENSP00000366876:A242V	A	+	2	0	PHF13	6604106	1.000000	0.71417	0.865000	0.33974	0.957000	0.61999	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	GCC		0.507	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		5	363	0	0	0	1	0	5	363					T	6681519	C	T	6681519	3	4	29	1	0	0	0	0	1	0	0	0	11866	739	26	2	739	2	PHF13	1	6681519	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08		6681519	242569102	1	3522											
VPS13D	55187	broad.mit.edu	37	chr1	12389931	12389931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactagccctgaaggctatgCccacttcaccctttctggag	8	14	2	1	rs369839825		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:12389931C>T	ENST00000358136.3	+	37	8373	c.8243C>T	c.(8242-8244)gCc>gTc	p.A2748V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2748V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCTATGCCCACTTCACC	0.418																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8242-8244)gCc>gTc		vacuolar protein sorting 13 homolog D (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	101	92	95		8243,8243	5.8	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS13D	NM_015378.2,NM_018156.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	2748/4389,2748/4364	12389931	1,13005	2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12389931C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8243C>T	1.37:g.12389931C>T	ENSP00000350854:p.Ala2748Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2748V	p.A2748V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	37	8373	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2748						Missense_Mutation	SNP	ENST00000358136.3	37	c.8243C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.515898|2.515898	0.44763|0.44763	0.0|0.0	1.16E-4|1.16E-4	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.47528|.	0.84;0.84|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.099684|.	0.64402|.	D|.	0.000002|.	T|T	0.73999|0.73999	0.3659|0.3659	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;B;B|.	0.76494|.	0.999;0.001;0.0|.	D;B;B|.	0.80764|.	0.994;0.005;0.002|.	T|T	0.69168|0.69168	-0.5216|-0.5216	10|5	0.28530|.	T|.	0.3|.	.|.	20.3431|20.3431	0.98773|0.98773	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	655;2748;2748|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|S	2748|1571	ENSP00000348666:A2748V;ENSP00000350854:A2748V|.	ENSP00000348666:A2748V|.	A|P	+|+	2|1	0|0	VPS13D|VPS13D	12312518|12312518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.087000|7.087000	0.76893|0.76893	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.418	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	392	0	0	0	1	0	5	392					T	12389931	C	T	12389931	3	4	29	1	0	0	0	0	1	0	0	0	17246	739	26	2	8385	2	VPS13D	1	12389931	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	5708412	12389931	236860690	2	3523											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		10	332						10	332	---	---	---	---	-	46184898	AC	-	46184897	7	5	29	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-3A-A9IJ-01A-11D-A397-08	33794966	46184897	203065724	3	3524											
EPS15	2060	broad.mit.edu	37	chr1	51910708	51910708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagtcctttgtgtcGcataatgacctgcacaaata	6	12	0	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:51910708G>A	ENST00000371733.3	-	11	903	c.807C>T	c.(805-807)tgC>tgT	p.C269C	EPS15_ENST00000371730.2_Silent_p.C269C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	269	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCTTTGTGTCGCATAATGACC	0.388			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(805-807)tgC>tgT		epidermal growth factor receptor pathway substrate 15							112	100	104					1																	51910708		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51910708G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.807C>T	1.37:g.51910708G>A						EPS15_ENST00000371730.2_Silent_p.C269C	p.C269C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			11	903	-			269			EH 3.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.807C>T	CCDS557.1																																																																																				0.388	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	432	0	0	0	1	0	5	432					A	51910708	G	A	51910708	2	1	29	1	0	0	0	0	0	0	0	1	5210	1079	38	1		1	EPS15	1	51910708	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	5725811	51910708	197339913	4	3525											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	324						8	324	---	---	---	---	-	77334279	GCA	-	77334277	7	5	29	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-3A-A9IJ-01A-11D-A397-08	25423569	77334277	171916344	5	3526											
SYCP1	6847	broad.mit.edu	37	chr1	115469133	115469134	+	Frame_Shift_Ins	INS	-	-	A													tttaacagaataaggccttgINSaaaaaaaaaggtacagcaga							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:115469133_115469134insA	ENST00000369522.3	+	23	2115_2116	c.1875_1876insA	c.(1876-1878)aaafs	p.K626fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K626fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	626					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGGCCTTGAAAAAAAAAGG	0.267																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1873-1878)ttaaaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469133_115469134insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1884dupA	1.37:g.115469142_115469142dupA	ENSP00000358535:p.Lys626fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs	p.LK625fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2115_2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	625					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.1875_1876insA	CCDS879.1																																																																																				0.267	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		8	185						8	185	---	---	---	---	A	115469134	-	A	115469133	7	5	29	1	0	1	1	0	0	0	0	0	15483	1281	45	0	1961	0	SYCP1	1	115469133	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	38134856	115469133	133781488	6	3527											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	12	11	4	1	rs201025925		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		17	2387	0	0	0	1	0	17	2387					T	152128689	C	T	152128689	3	4	29	1	0	0	0	0	1	0	0	0	13714	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	36659556	152128689	97121932	7	3528											
MYOG	4656	broad.mit.edu	37	chr1	203054698	203054698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgagcagggcctggaggCgctcgatgtactggatggca	17	9	0	1	rs376105946		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:203054698C>A	ENST00000241651.4	-	1	466	c.392G>T	c.(391-393)cGc>cTc	p.R131L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	131	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GGCCTGGAGGCGCTCGATGTA	0.672																																						ENST00000241651.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						c.(391-393)cGc>cTc		myogenin (myogenic factor 4)							49	52	51					1																	203054698		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054698C>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"Basic helix-loop-helix proteins"	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.392G>T	1.37:g.203054698C>A	ENSP00000241651:p.Arg131Leu						p.R131L	NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN			1	466	-			131			Helix-loop-helix motif.		Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.392G>T	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730242	0.89390	.	.	ENSG00000122180	ENST00000241651	D	0.97888	-4.59	5.59	5.59	0.84812	Helix-loop-helix DNA-binding (5);	0.044747	0.85682	D	0.000000	D	0.95993	0.8695	N	0.02539	-0.55	0.58432	D	0.999997	D	0.61697	0.99	D	0.64042	0.921	D	0.98270	1.0503	10	0.72032	D	0.01	-5.3104	19.5985	0.95549	0.0:1.0:0.0:0.0	.	131	P15173	MYOG_HUMAN	L	131	ENSP00000241651:R131L	ENSP00000241651:R131L	R	-	2	0	MYOG	201321321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.953000	0.56699	2.636000	0.89361	0.563000	0.77884	CGC		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		11	348	1	0	0.000978159	1	0.000994738	11	348					A	203054698	C	A	203054698	3	1	29	1	0	0	0	0	1	0	0	0	10131	768	27	3	294	3	MYOG	1	203054698	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	50926009	203054698	46195923	8	3529											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactactgtgtcgttttttgCccttgcgaaacatttttcac	6	10	1	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393																																						ENST00000360635.3																			1	Substitution - Missense(1)	p.G5D(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(13-15)gGc>gAc		integrin beta 1 binding protein 1							301	290	294					2																	9558813		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558813C>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.14G>A	2.37:g.9558813C>T	ENSP00000353850:p.Gly5Asp					ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D	p.G5D			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		5					D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.14G>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292098	0.59976	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.54	5.54	0.83059	.	0.048386	0.85682	D	0.000000	T	0.60405	0.2266	N	0.14661	0.345	0.48452	D	0.999653	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62560	0.904;0.845;0.904	T	0.65471	-0.6160	9	0.54805	T	0.06	-41.9665	18.4694	0.90767	0.0:1.0:0.0:0.0	.	5;5;5	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	D	5	.	ENSP00000238091:G5D	G	-	2	0	ITGB1BP1	9476264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.854000	0.48325	2.600000	0.87896	0.655000	0.94253	GGC		0.393	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		7	1000	0	0	0	1	0	7	1000					T	9558813	C	T	9558813	3	4	29	1	0	0	0	0	1	0	0	0	7921	739	26	2	612	2	ITGB1BP1	2	9558813	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08		9558813	233640560	9	3530											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		8	443						8	443	---	---	---	---	-	20482979	GCT	-	20482977	7	5	29	1	0	1	0	1	0	0	0	0	12876	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-3A-A9IJ-01A-11D-A397-08	10924164	20482977	222716396	10	3531											
HS1BP3	64342	broad.mit.edu	37	chr2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-													acaggaccttcctgggtagtGgggggaggctggctgctgca					rs77941615	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:20840864delG	ENST00000304031.3	-	3	300	c.275delC	c.(274-276)ccafs	p.P92fs	HS1BP3_ENST00000402541.1_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGTAGTGGGGGGAGGCT	0.537																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(274-276)cafs		HCLS1 binding protein 3							162	164	164					2																	20840864		2203	4300	6503	SO:0001589	frameshift_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840864delG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.275delC	2.37:g.20840864delG	ENSP00000305193:p.Pro92fs					HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	p.P92fs			Q53T59	H1BP3_HUMAN			3	289	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		92			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Frame_Shift_Del	DEL	ENST00000304031.3	37	c.275delC	CCDS1700.1																																																																																				0.537	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		8	1270						8	1270	---	---	---	---	-	20840864	G	-	20840864	7	5	29	1	0	1	0	1	0	0	0	0	7391	1348	47	0	923	0	HS1BP3	2	20840864	Frame_Shift_Del	DEL	G	TCGA-3A-A9IJ-01A-11D-A397-08	357887	20840864	222358509	11	3532											
ADD2	119	broad.mit.edu	37	chr2	70903983	70903983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgggactgaggccccGctgacttcacatcttgtcgg	14	12	2	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:70903983G>A	ENST00000264436.4	-	13	1982	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V|ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	513					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGCCCCGCTGACTTCAC	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1537-1539)gCg>gTg		adducin 2 (beta)							70	71	71					2																	70903983		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.chr2:70903983G>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.1538C>T	2.37:g.70903983G>A	ENSP00000264436:p.Ala513Val					ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1982	-			513					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1538C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220356	0.95139	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.82056	2.57	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.973;0.994;0.953;0.973;0.987;0.996	T	0.53620	-0.8413	10	0.87932	D	0	-23.7626	16.036	0.80628	0.0:0.0:1.0:0.0	.	529;513;207;513;513;513	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	513;513;513;207;513;207;513;529	ENSP00000264436:A513V;ENSP00000384677:A513V;ENSP00000347972:A513V;ENSP00000430243:A207V;ENSP00000388072:A513V;ENSP00000398112:A529V	ENSP00000264436:A513V	A	-	2	0	ADD2	70757491	1.000000	0.71417	0.573000	0.28510	0.967000	0.64934	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		6	499	0	0	0	1	0	6	499					A	70903983	G	A	70903983	3	1	29	1	0	0	0	0	1	0	0	0	305	1087	38	1	835	1	ADD2	2	70903983	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	50063119	70903983	172295390	12	3533											
LYPD6B	130576	broad.mit.edu	37	chr2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactaatgcagtgtttgccGtaatgcacgctcagagaaca	9	10	1	1	rs373317284		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(535-537)Gta>Ata		LY6/PLAUR domain containing 6B		G	ILE/VAL	0,4126		0,0,2063	176	176	176		535	0.9	0	2		176	1,8403		0,1,4201	no	missense	LYPD6B	NM_177964.3	29	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	benign	179/208	150071135	1,12529	2063	4202	6265	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071135G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.463G>A	2.37:g.150071135G>A	ENSP00000386650:p.Val155Ile					LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I	p.V179I	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			7	936	+			155					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		0.483	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		6	733	0	0	0	1	0	6	733					A	150071135	G	A	150071135	3	1	29	1	0	0	0	0	1	0	0	0	9154	1145	40	1	557	1	LYPD6B	2	150071135	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	79167152	150071135	93128238	13	3534											
IFIH1	64135	broad.mit.edu	37	chr2	163134715	163134716	+	Splice_Site	INS	-	-	T													aggtccaaacctaaattaccINSttttttttccatttgaatgg					rs150760072|rs553669430	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:163134715_163134716insT	ENST00000263642.2	-	9	2159_2160	c.1764_1765insA	c.(1762-1767)aaagct>aaaAgct	p.A589fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	589					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	8	0.00159744	0.0061	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.e9+1		interferon induced with helicase C domain 1				25,4239		0,25,2107						5.7	1			121	5,8247		0,5,4121	no	frameshift-near-splice	IFIH1	NM_022168.2		0,30,6228	A1A1,A1R,RR		0.0606,0.5863,0.2397				30,12486				SO:0001630	splice_region_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134715_163134716insT	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1765+1->A	2.37:g.163134723_163134723dupT							p.NC588_splice	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			9	2159_2160	-			588					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Splice_Site	INS	ENST00000263642.2	37	c.1765_splice	CCDS2217.1																																																																																				0.327	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	Frame_Shift_Ins	7	485						7	485	---	---	---	---	T	163134716	-	T	163134715	8	5	29	1	0	1	1	0	0	0	1	0	7550	695	24	0	1344	0	IFIH1	2	163134715	Splice_Site	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	13063580	163134715	80064658	14	3535											
TTN	7273	broad.mit.edu	37	chr2	179665290	179665290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttcggctccatcccGgtagaacttcaccacaggtg	10	13	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:179665290G>A	ENST00000591111.1	-	4	639	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TTN_ENST00000342992.6_Missense_Mutation_p.R139W|TTN_ENST00000359218.5_Missense_Mutation_p.R139W|TTN_ENST00000589042.1_Missense_Mutation_p.R139W|TTN_ENST00000360870.5_Missense_Mutation_p.R139W|TTN_ENST00000460472.2_Missense_Mutation_p.R139W|TTN_ENST00000342175.6_Missense_Mutation_p.R139W			Q8WZ42	TITIN_HUMAN	titin	32757	Ig-like 2.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCCATCCCGGTAGAACTTC	0.507																																						ENST00000589042.1																			0				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						c.(415-417)Cgg>Tgg		titin							141	125	130					2																	179665290		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179665290G>A	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.415C>T	2.37:g.179665290G>A	ENSP00000465570:p.Arg139Trp					TTN_ENST00000360870.5_Missense_Mutation_p.R139W|TTN_ENST00000359218.5_Missense_Mutation_p.R139W|TTN_ENST00000342992.6_Missense_Mutation_p.R139W|TTN_ENST00000591111.1_Missense_Mutation_p.R139W|TTN_ENST00000342175.6_Missense_Mutation_p.R139W|TTN_ENST00000460472.2_Missense_Mutation_p.R139W	p.R139W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		4	639	-			139			Ig-like 2.		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.415C>T		.	.	.	.	.	.	.	.	.	.	G	12.90	2.075918	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.95	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71307	0.3324	M	0.94101	3.495	0.32590	N	0.527269	P;B;B;B;P	0.52463	0.55;0.316;0.316;0.316;0.953	B;B;B;B;B	0.34536	0.058;0.062;0.062;0.062;0.185	T	0.82110	-0.0619	9	0.87932	D	0	.	7.1196	0.25437	0.1404:0.0:0.7199:0.1397	.	139;139;139;139;139	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	W	139	ENSP00000343764:R139W;ENSP00000434586:R139W;ENSP00000340554:R139W;ENSP00000352154:R139W;ENSP00000354117:R139W	ENSP00000340554:R139W	R	-	1	2	TTN	179373535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.408000	0.52651	1.534000	0.49203	0.563000	0.77884	CGG		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	614	0	0	0	1	0	6	614					A	179665290	G	A	179665290	3	1	29	1	0	0	0	0	1	0	0	0	16789	1115	39	1	111009	1	TTN	2	179665290	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	16530575	179665290	63534083	15	3536											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116	104	108					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			8	362						8	362	---	---	---	---	-	191161629	T	-	191161629	7	5	29	1	0	1	0	1	0	0	0	0	7130	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	11496339	191161629	52037744	16	3537											
DCLK3	85443	broad.mit.edu	37	chr3	36778971	36778971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccatgtcctccttgcCcttgagtctggacttgtcaa	8	14	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:36778971C>G	ENST00000416516.2	-	2	1670	c.1180G>C	c.(1180-1182)Ggc>Cgc	p.G394R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCCTTGCCCTTGAGTCTG	0.507																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1180-1182)Ggc>Cgc		doublecortin-like kinase 3							95	90	92					3																	36778971		2151	4259	6410	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36778971C>G	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1180G>C	3.37:g.36778971C>G	ENSP00000394484:p.Gly394Arg						p.G394R	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	1670	-			394			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1180G>C	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873415	0.91664	.	.	ENSG00000163673	ENST00000416516	T	0.64260	-0.09	5.64	5.64	0.86602	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	0.33346	N	0.005001	T	0.69931	0.3166	N	0.20445	0.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73662	-0.3912	10	0.87932	D	0	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	394	Q9C098	DCLK3_HUMAN	R	394	ENSP00000394484:G394R	ENSP00000394484:G394R	G	-	1	0	DCLK3	36753975	1.000000	0.71417	0.939000	0.37840	0.984000	0.73092	7.719000	0.84751	2.837000	0.97791	0.655000	0.94253	GGC		0.507	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		11	302	0	0	0	1	0	11	302					G	36778971	C	G	36778971	3	3	29	1	0	0	0	0	1	0	0	0	4304	623	22	5	782	5	DCLK3	3	36778971	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08		36778971	161243459	17	3538											
PTH1R	5745	broad.mit.edu	37	chr3	46939361	46939361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggcgcccctgtctgccGgaatgggaccacatcctgtg	13	14	1	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:46939361G>A	ENST00000313049.5	+	4	533	c.330G>A	c.(328-330)ccG>ccA	p.P110P	PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000449590.1_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000490109.1_3'UTR			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	110					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCTGTCTGCCGGAATGGGACC	0.572																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(328-330)ccG>ccA		parathyroid hormone 1 receptor							45	42	43					3																	46939361		2203	4300	6503	SO:0001819	synonymous_variant	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46939361G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.330G>A	3.37:g.46939361G>A						PTH1R_ENST00000449590.1_Silent_p.P110P|PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000490109.1_3'UTR	p.P110P			Q03431	PTH1R_HUMAN			4	533	+			110					Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.330G>A	CCDS2747.1																																																																																				0.572	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		7	221	0	0	0	1	0	7	221					A	46939361	G	A	46939361	2	1	29	1	0	0	0	0	0	0	0	1	12806	1103	39	1		1	PTH1R	3	46939361	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	10160390	46939361	151083069	18	3539											
SLC38A3	10991	broad.mit.edu	37	chr3	50252865	50252865	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctactccatccaccTgctactcaagtcctcagggg	7	17	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:50252865T>C	ENST00000420502.1	+	0	500									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TCCATCCACCTGCTACTCAAG	0.587																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						90	92	91					3																	50252865		2019	4182	6201			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50252865T>C	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252865T>C										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	500	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.587	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		9	482	0	0	0	1	0	9	482					C	50252865	T	C	50252865	1	2	29	0	1	0	0	0	0	0	0	0	14655	1580	55	4		4	SLC38A3	3	50252865	RNA	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	3313504	50252865	147769565	19	3540											
LRTM1	57408	broad.mit.edu	37	chr3	54952583	54952583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactgggctgtgattgccGcataggtgcagccatagatg	15	8	0	2	rs200474589		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:54952583G>A	ENST00000273286.5	-	3	1103	c.941C>T	c.(940-942)gCg>gTg	p.A314V	CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A238V|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	314						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGTGATTGCCGCATAGGTGCA	0.532																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(940-942)gCg>gTg		leucine-rich repeats and transmembrane domains 1							153	129	137					3																	54952583		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54952583G>A	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.941C>T	3.37:g.54952583G>A	ENSP00000273286:p.Ala314Val					CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A238V|CACNA2D3_ENST00000288197.5_Intron	p.A314V	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	1103	-			314					Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.941C>T	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183808	0.78677	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.64260	-0.09;0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84082	0.0385	10	0.87932	D	0	.	19.6909	0.96000	0.0:0.0:1.0:0.0	.	314	Q9HBL6	LRTM1_HUMAN	V	314;238	ENSP00000273286:A314V;ENSP00000419772:A238V	ENSP00000273286:A314V	A	-	2	0	LRTM1	54927623	1.000000	0.71417	0.866000	0.34008	0.221000	0.24807	9.471000	0.97696	2.643000	0.89663	0.561000	0.74099	GCG		0.532	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		7	807	0	0	0	1	0	7	807					A	54952583	G	A	54952583	3	1	29	1	0	0	0	0	1	0	0	0	9082	1087	38	1	100	1	LRTM1	3	54952583	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	4699718	54952583	143069847	20	3541											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	1636						11	1636	---	---	---	---	-	66436627	GCT	-	66436625	7	5	29	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-3A-A9IJ-01A-11D-A397-08	11484042	66436625	131585805	21	3542											
ROBO2	6092	broad.mit.edu	37	chr3	77645801	77645801	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttctcaatgctggtgaTcccagctatccatggcttgc	10	12	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:77645801T>A	ENST00000461745.1	+	19	3654	c.2754T>A	c.(2752-2754)gaT>gaA	p.D918E	ROBO2_ENST00000487694.3_Missense_Mutation_p.D934E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D918E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	918					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGCTGGTGATCCCAGCTATC	0.453																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2752-2754)gaT>gaA		roundabout, axon guidance receptor, homolog 2 (Drosophila)							146	142	143					3																	77645801		1864	4115	5979	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645801T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2754T>A	3.37:g.77645801T>A	ENSP00000417164:p.Asp918Glu					ROBO2_ENST00000487694.3_Missense_Mutation_p.D934E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D918E	p.D918E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3654	+			918					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2754T>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.143|3.143	-0.175813|-0.175813	0.06421|0.06421	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.60797|.	0.16;0.2;0.19|.	6.16|6.16	-1.95|-1.95	0.07548|0.07548	.|.	0.000000|.	0.47455|.	D|.	0.000239|.	T|T	0.36552|0.36552	0.0971|0.0971	L|L	0.27053|0.27053	0.805|0.805	.|.	.|.	.|.	P;D;P|.	0.58620|.	0.938;0.983;0.863|.	P;P;P|.	0.56434|.	0.53;0.798;0.53|.	T|T	0.47674|0.47674	-0.9099|-0.9099	9|4	0.02654|.	T|.	1|.	.|.	11.9401|11.9401	0.52896|0.52896	0.0:0.5711:0.0:0.4289|0.0:0.5711:0.0:0.4289	.|.	934;918;918|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	E|N	934;934;938;918;918|75	ENSP00000417335:D934E;ENSP00000417164:D918E;ENSP00000327536:D918E|.	ENSP00000327536:D918E|.	D|I	+|+	3|2	2|0	ROBO2|ROBO2	77728491|77728491	0.834000|0.834000	0.29399|0.29399	0.993000|0.993000	0.49108|0.49108	0.901000|0.901000	0.52897|0.52897	-0.043000|-0.043000	0.12043|0.12043	-0.265000|-0.265000	0.09352|0.09352	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.453	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		85	605	0	0	0	1	0	85	605					A	77645801	T	A	77645801	3	1	29	1	0	0	0	0	1	0	0	0	13564	1432	50	5	2830	5	ROBO2	3	77645801	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	11209176	77645801	120376629	22	3543											
EAF2	55840	broad.mit.edu	37	chr3	121573658	121573659	+	Frame_Shift_Ins	INS	-	-	A													ctcagcagcaacatcactgtINSaaaaaaaacaaggtatgtgg							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:121573658_121573659insA	ENST00000273668.2	+	3	397_398	c.326_327insA	c.(325-330)gtaaaafs	p.VK109fs	EAF2_ENST00000451944.2_Frame_Shift_Ins_p.VK109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	109					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACAA	0.248																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(325-327)gaafs		ELL associated factor 2																																				SO:0001589	frameshift_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573658_121573659insA	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.334dupA	3.37:g.121573666_121573666dupA	ENSP00000273668:p.Val109fs					EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs	p.E109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	3	397_398	+			109					Q9NZ82	Frame_Shift_Ins	INS	ENST00000273668.2	37	c.326_327insA	CCDS3006.1																																																																																				0.248	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		7	621						7	621	---	---	---	---	A	121573659	-	A	121573658	7	5	29	1	0	1	1	0	0	0	0	0	4892	1638	57	0	336	0	EAF2	3	121573658	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	43927857	121573658	76448772	23	3544											
MCM2	4171	broad.mit.edu	37	chr3	127323603	127323603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccggggcctgggccGcatgcgccgtgggctcctgt	19	14	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:127323603G>A	ENST00000265056.7	+	3	633	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	130	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGCCTGGGCCGCATGCGCCGT	0.677																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(388-390)cGc>cAc		minichromosome maintenance complex component 2							14	17	16					3																	127323603		2197	4279	6476	SO:0001583	missense	4171				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323603G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.389G>A	3.37:g.127323603G>A	ENSP00000265056:p.Arg130His						p.R130H	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			3	633	+			130			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.389G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926833	0.92319	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000480910	T;T	0.25912	1.77;1.85	5.29	5.29	0.74685	.	0.189022	0.47455	D	0.000232	T	0.49712	0.1573	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.48703	-0.9012	10	0.59425	D	0.04	-29.7498	18.9442	0.92615	0.0:0.0:1.0:0.0	.	130	P49736	MCM2_HUMAN	H	130;34;121	ENSP00000265056:R130H;ENSP00000419802:R121H	ENSP00000265056:R130H	R	+	2	0	MCM2	128806293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.766000	0.98957	2.466000	0.83321	0.591000	0.81541	CGC		0.677	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			4	85	0	0	0	1	0	4	85					A	127323603	G	A	127323603	3	1	29	1	0	0	0	0	1	0	0	0	9427	1087	38	1	399	1	MCM2	3	127323603	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	5749945	127323603	70698827	24	3545											
ATP2C1	27032	broad.mit.edu	37	chr3	130699432	130699432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatttgctttagccagtcGtctgggattgtattccaaaa	8	9	2	0	rs200576649		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:130699432G>A	ENST00000510168.1	+	20	2298	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	ATP2C1_ENST00000328560.8_Missense_Mutation_p.R583H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R578H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R583H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R567H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R617H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R583H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R528H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	583					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTAGCCAGTCGTCTGGGATTG	0.383									Hailey-Hailey disease				G|||	1	0.000199681	0.0	0.0	5008	,	,		19098	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1747-1749)cGt>cAt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						112	108	110					3																	130699432		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130699432G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1748G>A	3.37:g.130699432G>A	ENSP00000427461:p.Arg583His					ATP2C1_ENST00000328560.8_Missense_Mutation_p.R583H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R583H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R617H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R528H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R578H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R583H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R567H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R567H	p.R583H			P98194	AT2C1_HUMAN			20	2298	+			583					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1748G>A	CCDS46914.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	20.2|20.2	3.949035|3.949035	0.73787|0.73787	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612;ENST00000508660	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96232|.	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67590|0.67590	0.2909|0.2909	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B;P;P;B;P;B;B|.	0.34997|.	0.401;0.456;0.479;0.401;0.479;0.19;0.227|.	B;B;B;B;B;B;B|.	0.32211|.	0.055;0.092;0.142;0.055;0.142;0.032;0.055|.	T|T	0.61515|0.61515	-0.7047|-0.7047	10|5	0.72032|.	D|.	0.01|.	.|.	19.8856|19.8856	0.96911|0.96911	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	617;578;617;583;617;583;583|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	H|I	567;528;567;617;578;583;583;567;567;583;583;583;583;582|537;101	ENSP00000423774:R567H;ENSP00000425320:R528H;ENSP00000421326:R567H;ENSP00000376914:R617H;ENSP00000432956:R578H;ENSP00000427461:R583H;ENSP00000424783:R583H;ENSP00000423330:R567H;ENSP00000422872:R567H;ENSP00000329664:R583H;ENSP00000395809:R583H;ENSP00000352665:R583H;ENSP00000402677:R583H|.	ENSP00000329664:R583H|.	R|V	+|+	2|1	0|0	ATP2C1|ATP2C1	132182122|132182122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	5.805000|5.805000	0.69143|0.69143	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	CGT|GTC		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		7	286	0	0	0	1	0	7	286					A	130699432	G	A	130699432	3	1	29	1	0	0	0	0	1	0	0	0	1144	1145	40	1	1822	1	ATP2C1	3	130699432	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3375829	130699432	67322998	25	3546											
IQCJ	654502	broad.mit.edu	37	chr3	158983022	158983022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgccagggcccctgttGggaagattcatccttacatc	10	11	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:158983022G>A	ENST00000451172.1	+	5	415	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	IQCJ_ENST00000482126.1_Missense_Mutation_p.G77R|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	104										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GGCCCCTGTTGGGAAGATTCA	0.448																																						ENST00000482126.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15						c.(229-231)Ggg>Agg		IQ motif containing J							137	136	136					3																	158983022		1888	4112	6000	SO:0001583	missense	654502							g.chr3:158983022G>A	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.310G>A	3.37:g.158983022G>A	ENSP00000402153:p.Gly104Arg					IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G104R|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	p.G77R	NM_001197100.1	NP_001184029.1			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	334	+								B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.229G>A	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184637	0.21870	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	2.96	-0.843	0.10744	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.18524	-1.0334	8	0.52906	T	0.07	.	6.1096	0.20094	0.4729:0.0:0.5271:0.0	.	77;104	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	R	104;77	.	ENSP00000402153:G104R	G	+	1	0	IQCJ	160465716	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.860000	0.04272	-0.162000	0.10964	0.591000	0.81541	GGG		0.448	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		22	619	0	0	0	1	0	22	619					A	158983022	G	A	158983022	3	1	29	1	0	0	0	0	1	0	0	0	7842	1348	47	2	376	2	IQCJ	3	158983022	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	28283590	158983022	39039408	26	3547											
PSMD2	5708	broad.mit.edu	37	chr3	184021144	184021144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaggtggactctgcccGcatgaacctggcctcctctt	9	16	3	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:184021144G>A	ENST00000310118.4	+	9	1664	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.R210H|PSMD2_ENST00000439383.1_Missense_Mutation_p.R239H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACTCTGCCCGCATGAACCTG	0.493																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1105-1107)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						109	105	106					3																	184021144		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184021144G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1106G>A	3.37:g.184021144G>A	ENSP00000310129:p.Arg369His					EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R239H|PSMD2_ENST00000435761.1_Missense_Mutation_p.R210H	p.R369H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1664	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		369					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.1106G>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847237	0.91277	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.26660	1.72;1.74;1.73	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74348	0.983;0.964	T	0.63625	-0.6595	10	0.66056	D	0.02	-13.2682	20.1946	0.98239	0.0:0.0:1.0:0.0	.	210;369	E9PCS3;Q13200	.;PSMD2_HUMAN	H	369;361;210;239	ENSP00000310129:R369H;ENSP00000402618:R210H;ENSP00000416028:R239H	ENSP00000310129:R369H	R	+	2	0	PSMD2	185503838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.846000	0.97976	0.603000	0.83216	CGC		0.493	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		9	1060	0	0	0	1	0	9	1060					A	184021144	G	A	184021144	3	1	29	1	0	0	0	0	1	0	0	0	12745	1087	38	1	1140	1	PSMD2	3	184021144	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	25038122	184021144	14001286	27	3548											
CRIPAK	285464	broad.mit.edu	37	chr4	1389313	1389313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacacacatgccgatgTggagtgcccgcctgctcaca	10	15	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:1389313T>C	ENST00000324803.4	+	1	3974	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	338					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGCCGATGTGGAGTGCCCG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1012-1014)tgT>tgC		cysteine-rich PAK1 inhibitor							169	175	173					4																	1389313		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389313T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1014T>C	4.37:g.1389313T>C							p.C338C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3974	+			338					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1014T>C	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		12	1506	0	0	0	1	0	12	1506					C	1389313	T	C	1389313	2	2	29	1	0	0	0	0	0	0	0	1	3886	1702	59	4		4	CRIPAK	4	1389313	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08		1389313	189764963	28	3549											
UGT2B11	10720	broad.mit.edu	37	chr4	70070185	70070185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcagtgcattcagcaGgtctgtactcgacattgtgt	10	9	4	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:70070185G>T	ENST00000446444.1	-	5	1281	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	425					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATTCAGCAGGTCTGTACTC	0.413																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1273-1275)Ctg>Atg		UDP glucuronosyltransferase 2 family, polypeptide B11							193	183	186					4																	70070185		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070185G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1273C>A	4.37:g.70070185G>T	ENSP00000387683:p.Leu425Met					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.L425M	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1281	-			425					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1273C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	5.180	0.218686	0.09810	.	.	ENSG00000213759	ENST00000446444	T	0.72282	-0.64	1.96	-0.455	0.12193	.	0.104464	0.39274	U	0.001409	D	0.83487	0.5265	M	0.93594	3.435	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.74259	-0.3723	10	0.87932	D	0	.	6.684	0.23134	0.4896:0.0:0.5104:0.0	.	425	O75310	UDB11_HUMAN	M	425	ENSP00000387683:L425M	ENSP00000387683:L425M	L	-	1	2	UGT2B11	70104774	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.327000	0.02682	-0.343000	0.08351	-1.451000	0.01035	CTG		0.413	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	987	1	0	1.28384e-07	1	1.35141e-07	7	987					T	70070185	G	T	70070185	3	4	29	1	0	0	0	0	1	0	0	0	17011	991	35	3	324	3	UGT2B11	4	70070185	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	68680872	70070185	121084091	29	3550											
PKD2	5311	broad.mit.edu	37	chr4	88986558	88986559	+	Frame_Shift_Ins	INS	-	-	A													ctttggtcaaactaaaactgINSaaaaaaaataccgtggatga							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:88986558_88986559insA	ENST00000508588.1	+	6	800_801	c.405_406insA	c.(406-408)aaafs	p.K136fs	PKD2_ENST00000502363.1_Frame_Shift_Ins_p.K136fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.K718fs|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	388					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AACTAAAACTGAAAAAAAATAC	0.386																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36	GRCh37	CD972408	PKD2	D		c.(2149-2154)ctaaaafs		polycystic kidney disease 2 (autosomal dominant)																																				SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986558_88986559insA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.413dupA	4.37:g.88986566_88986566dupA	ENSP00000427131:p.Lys136fs					PKD2_ENST00000508588.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000511337.1_3'UTR	p.LK717fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2217_2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	717			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Ins	INS	ENST00000508588.1	37	c.2151_2152insA																																																																																					0.386	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		8	573						8	573	---	---	---	---	A	88986559	-	A	88986558	7	5	29	1	0	1	1	0	0	0	0	0	12008	1277	45	0	2193	0	PKD2	4	88986558	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	18916373	88986558	102167718	30	3551											
GRID2	2895	broad.mit.edu	37	chr4	93225857	93225857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtctggtggtctcgaaCctgggactcggcgaatgcgg	16	11	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:93225857C>T	ENST00000282020.4	+	1	308	c.50C>T	c.(49-51)aCc>aTc	p.T17I	RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T17I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	17					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)			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)		TGGTCTCGAACCTGGGACTCG	0.458																																						ENST00000282020.4																			0				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						c.(49-51)aCc>aTc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						183	167	172					4																	93225857		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.chr4:93225857C>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.50C>T	4.37:g.93225857C>T	ENSP00000282020:p.Thr17Ile					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T17I	p.T17I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	1	308	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	17					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.50C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124090	0.37533	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.13901	2.63;2.55	4.56	3.71	0.42584	.	.	.	.	.	T	0.09423	0.0232	N	0.14661	0.345	0.21719	N	0.999576	B;B	0.19583	0.037;0.037	B;B	0.18871	0.023;0.023	T	0.29027	-1.0025	9	0.23302	T	0.38	.	14.6334	0.68673	0.0:0.8535:0.1464:0.0	.	17;17	E9PH24;O43424	.;GRID2_HUMAN	I	17	ENSP00000282020:T17I;ENSP00000421257:T17I	ENSP00000282020:T17I	T	+	2	0	GRID2	93444880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.549000	0.45803	1.111000	0.41721	0.650000	0.86243	ACC		0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	298	0	0	0	1	0	5	298					T	93225857	C	T	93225857	3	4	29	1	0	0	0	0	1	0	0	0	6802	507	18	2	52	2	GRID2	4	93225857	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	4239299	93225857	97928419	31	3552											
BANK1	55024	broad.mit.edu	37	chr4	102783700	102783700	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaatcctggtgaaatattCataattttgagagatgaagt	9	4	1	5			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:102783700C>T	ENST00000322953.4	+	4	916	c.642C>T	c.(640-642)ttC>ttT	p.F214F	BANK1_ENST00000428908.1_Silent_p.F81F|BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000504592.1_Silent_p.F199F|BANK1_ENST00000444316.2_Silent_p.F184F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	214	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTGAAATATTCATAATTTTGA	0.318																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(595-597)ttC>ttT		B-cell scaffold protein with ankyrin repeats 1							62	64	63					4																	102783700		2203	4298	6501	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102783700C>T	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.642C>T	4.37:g.102783700C>T						BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000444316.2_Silent_p.F184F|BANK1_ENST00000322953.4_Silent_p.F214F|BANK1_ENST00000428908.1_Silent_p.F81F	p.F199F			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1015	+		Hepatocellular(203;0.217)	214					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.597C>T	CCDS34038.1																																																																																				0.318	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		27	234	0	0	0	1	0	27	234					T	102783700	C	T	102783700	2	4	29	1	0	0	0	0	0	0	0	1	1310	825	29	2		2	BANK1	4	102783700	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	9557843	102783700	88370576	32	3553											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		4	69	0	0	0	1	0	4	69					G	164050124	T	G	164050124	2	3	29	1	0	0	0	0	0	0	0	1	10181	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	61266424	164050124	27104152	33	3554											
ODZ3	55714	broad.mit.edu	37	chr4	183713629	183713629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgaggaagggctgcttcTacaaacagctttcttgggta	11	9	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:183713629T>C	ENST00000511685.1	+	26	5927	c.5804T>C	c.(5803-5805)cTa>cCa	p.L1935P	TENM3_ENST00000406950.2_Missense_Mutation_p.L1935P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1935					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCTGCTTCTACAAACAGCT	0.463																																						ENST00000511685.1																			0											c.(5803-5805)cTa>cCa		teneurin transmembrane protein 3							62	63	63					4																	183713629		1929	4124	6053	SO:0001583	missense	55714							g.chr4:183713629T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5804T>C	4.37:g.183713629T>C	ENSP00000424226:p.Leu1935Pro					TENM3_ENST00000406950.2_Missense_Mutation_p.L1935P	p.L1935P							26	5927	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5804T>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132680	0.56828	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90197	-2.63;-2.63	4.74	4.74	0.60224	.	.	.	.	.	D	0.94866	0.8341	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.95489	0.8567	9	0.87932	D	0	.	14.6876	0.69059	0.0:0.0:0.0:1.0	.	1935	Q9P273	TEN3_HUMAN	P	1935	ENSP00000424226:L1935P;ENSP00000385276:L1935P	ENSP00000385276:L1935P	L	+	2	0	ODZ3	183950623	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	7.599000	0.82757	2.108000	0.64289	0.482000	0.46254	CTA		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	462	0	0	0	1	0	6	462					C	183713629	T	C	183713629	3	2	29	1	0	0	0	0	1	0	0	0	10878	1522	53	4	5902	4	ODZ3	4	183713629	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	19663505	183713629	7440647	34	3555											
FAM149A	25854	broad.mit.edu	37	chr4	187074872	187074872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcactcctgcctccGcagtccacagacccccgctc	9	20	0	1	rs140771382		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:187074872G>A	ENST00000356371.5	+	5	1033	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	FAM149A_ENST00000227065.4_Missense_Mutation_p.A54T|FAM149A_ENST00000502970.1_Missense_Mutation_p.A54T|FAM149A_ENST00000514153.1_Missense_Mutation_p.A54T|FAM149A_ENST00000503432.1_Missense_Mutation_p.A54T|FAM149A_ENST00000389354.5_Missense_Mutation_p.A54T|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	345										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTGCCTCCGCAGTCCACAG	0.507																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1033-1035)Gca>Aca		family with sequence similarity 149, member A		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116	126	122		160,160	0.3	0	4	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/483,54/483	187074872	2,13004	2203	4300	6503	SO:0001583	missense	25854							g.chr4:187074872G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1033G>A	4.37:g.187074872G>A	ENSP00000348732:p.Ala345Thr					FAM149A_ENST00000503432.1_Missense_Mutation_p.A54T|FAM149A_ENST00000389354.5_Missense_Mutation_p.A54T|FAM149A_ENST00000502970.1_Missense_Mutation_p.A54T|FAM149A_ENST00000227065.4_Missense_Mutation_p.A54T|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Missense_Mutation_p.A54T	p.A345T			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	1033	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	345					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1033G>A		.	.	.	.	.	.	.	.	.	.	G	7.964	0.747672	0.15710	4.54E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.45	0.334	0.15948	.	1.364760	0.04551	N	0.389909	T	0.28896	0.0717	L	0.38838	1.175	0.09310	N	1	P;P;B	0.42248	0.774;0.525;0.233	B;B;B	0.27715	0.066;0.082;0.032	T	0.19943	-1.0290	10	0.25751	T	0.34	-0.8577	4.1747	0.10346	0.1434:0.3316:0.4163:0.1087	.	345;345;54	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	T	54;345;54;54;54;54;54;54	ENSP00000426835:A54T;ENSP00000348732:A345T;ENSP00000422330:A54T;ENSP00000421713:A54T;ENSP00000227065:A54T;ENSP00000427155:A54T;ENSP00000424380:A54T;ENSP00000374005:A54T	ENSP00000227065:A54T	A	+	1	0	FAM149A	187311866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	0.076000	0.16826	-0.918000	0.02743	GCA		0.507	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		6	878	0	0	0	1	0	6	878					A	187074872	G	A	187074872	3	1	29	1	0	0	0	0	1	0	0	0	5476	1087	38	1	166	1	FAM149A	4	187074872	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3361243	187074872	4079404	35	3556											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		10	1474						10	1474	---	---	---	---	-	24492973	A	-	24492973	7	5	29	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-3A-A9IJ-01A-11D-A397-08		24492973	156422287	36	3557											
ISL1	3670	broad.mit.edu	37	chr5	50680467	50680467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatttggaatggcatgcgGcatgtttgaaatgtgcggag	16	5	0	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:50680467G>A	ENST00000230658.7	+	2	706	c.121G>A	c.(121-123)Gca>Aca	p.A41T	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.A41T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	41	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATGGCATGCGGCATGTTTGAA	0.418																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(121-123)Gca>Aca		ISL LIM homeobox 1							197	186	190					5																	50680467		1892	4124	6016	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680467G>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.121G>A	5.37:g.50680467G>A	ENSP00000230658:p.Ala41Thr					ISL1_ENST00000511384.1_Missense_Mutation_p.A41T	p.A41T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			2	706	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	41			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.121G>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982929	0.74474	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.88124	-2.34;-2.34	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	L	0.27975	0.815	0.80722	D	1	P	0.47106	0.89	P	0.46339	0.513	D	0.85330	0.1089	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	41	P61371	ISL1_HUMAN	T	41	ENSP00000230658:A41T;ENSP00000422676:A41T	ENSP00000230658:A41T	A	+	1	0	ISL1	50716224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.827000	0.86722	2.937000	0.99478	0.650000	0.86243	GCA		0.418	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		7	994	0	0	0	1	0	7	994					A	50680467	G	A	50680467	3	1	29	1	0	0	0	0	1	0	0	0	7886	1203	42	2	127	2	ISL1	5	50680467	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	26187494	50680467	130234793	37	3558											
IL6ST	3572	broad.mit.edu	37	chr5	55247756	55247756	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taactgatacagttttattaCcagtttcatttccaatgatg	5	7	1	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:55247756C>A	ENST00000381298.2	-	13	2012		c.e13+1		IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer						ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTTTTATTACCAGTTTCATT	0.289			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e13+1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							22	22	22					5																	55247756		2199	4295	6494	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247756C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1699+1G>T	5.37:g.55247756C>A						IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site		NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			13	2012	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37		CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561469	0.65538	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5907	0.95509	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL6ST	55283513	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.705000	0.54823	2.642000	0.89623	0.563000	0.77884	.		0.289	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Intron	45	91	1	0	1.00001e-27	1	1.07785e-27	45	91					A	55247756	C	A	55247756	5	1	29	1	0	0	0	0	0	0	1	0	7733	521	18	3	1076	3	IL6ST	5	55247756	Splice_Site	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	4567289	55247756	125667504	38	3559											
FBN2	2201	broad.mit.edu	37	chr5	127622522	127622522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcacagtcgtgtaacccTtcagcacattcatccagatc	6	13	3	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:127622522T>C	ENST00000508053.1	-	61	7874	c.6900A>G	c.(6898-6900)gaA>gaG	p.E2300E	FBN2_ENST00000262464.4_Silent_p.E2300E			P35556	FBN2_HUMAN	fibrillin 2	2300	EGF-like 39; 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)		CGTGTAACCCTTCAGCACATT	0.433																																						ENST00000508053.1																			0				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						c.(6898-6900)gaA>gaG		fibrillin 2							105	95	98					5																	127622522		2203	4300	6503	SO:0001819	synonymous_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.chr5:127622522T>C	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.6900A>G	5.37:g.127622522T>C						FBN2_ENST00000262464.4_Silent_p.E2300E	p.E2300E			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)	61	7874	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2300			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.6900A>G	CCDS34222.1																																																																																				0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	220	0	0	0	1	0	5	220					C	127622522	T	C	127622522	2	2	29	1	0	0	0	0	0	0	0	1	5728	1606	56	4		4	FBN2	5	127622522	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	72374766	127622522	53292738	39	3560											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089488	137089488	+	Missense_Mutation	SNP	G	G	A													cttggcgtgggcaccgggccGcgccgaatcctcccgggaca							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:137089488G>A	ENST00000314940.4	-	1	551	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	90					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)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACCGGGCCGCGCCGAATCC	0.657																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(268-270)Cgg>Tgg		heterogeneous nuclear ribonucleoprotein A0							53	57	55					5																	137089488		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089488G>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.268C>T	5.37:g.137089488G>A	ENSP00000316042:p.Arg90Trp						p.R90W	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	551	-			90					Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.268C>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272389	0.80580	.	.	ENSG00000177733	ENST00000314940	D	0.89050	-2.46	4.88	3.99	0.46301	Nucleotide-binding, alpha-beta plait (1);	0.139138	0.44688	U	0.000429	D	0.92616	0.7654	M	0.84773	2.715	0.40690	D	0.982382	D	0.76494	0.999	P	0.54499	0.754	D	0.93396	0.6756	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.5664:0.4335	.	90	Q13151	ROA0_HUMAN	W	90	ENSP00000316042:R90W	ENSP00000316042:R90W	R	-	1	2	HNRNPA0	137117387	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.737000	0.55060	1.022000	0.39626	0.305000	0.20034	CGG		0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		12	529	0	0	0	1	0	12	529					A	137089488	G	A	137089488	3	1	29	1	0	0	0	0	1	0	0	0	7286	1086	38	1	653	1	HNRNPA0	5	137089488	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	9466966	137089488	43825772	40	3561	22	2									
HNRNPA0	10949	broad.mit.edu	37	chr5	137089489	137089489	+	Silent	SNP	C	C	A													ttggcgtgggcaccgggccgCgccgaatcctcccgggacac							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:137089489C>A	ENST00000314940.4	-	1	550	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	89					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)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCGGGCCGCGCCGAATCCT	0.657																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(265-267)gcG>gcT		heterogeneous nuclear ribonucleoprotein A0							53	57	55					5																	137089489		2203	4300	6503	SO:0001819	synonymous_variant	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089489C>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.267G>T	5.37:g.137089489C>A							p.A89A	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	550	-			89					Q6IB18	Silent	SNP	ENST00000314940.4	37	c.267G>T	CCDS4193.1																																																																																				0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		11	537	1	0	6.40141e-05	1	6.58431e-05	11	537					A	137089489	C	A	137089489	2	1	29	1	0	0	0	0	0	0	0	1	7286	755	27	3		3	HNRNPA0	5	137089489	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	1	137089489	43825771	41	3562	22	2									
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137	136	136					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	1326	0	0	0	1	0	7	1326					A	141051740	G	A	141051740	3	1	29	1	0	0	0	0	1	0	0	0	840	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3962251	141051740	39863520	42	3563											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	462						8	462	---	---	---	---	-	149216459	GGA	-	149216457	7	5	29	1	0	1	0	1	0	0	0	0	12343	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-3A-A9IJ-01A-11D-A397-08	8164717	149216457	31698803	43	3564											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	500						7	500	---	---	---	---	-	176301304	CAC	-	176301302	7	5	29	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-3A-A9IJ-01A-11D-A397-08	27084845	176301302	4613958	44	3565											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156981	26156981	+	Missense_Mutation	SNP	A	A	T													gaagccaagcctaaggctaaAaaggcaggcgcggccaaggc					rs142089484		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:26156981A>T	ENST00000304218.3	+	1	423	c.363A>T	c.(361-363)aaA>aaT	p.K121N	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	121					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTAAGGCTAAAAAGGCAGGCG	0.642																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(361-363)aaA>aaT		histone cluster 1, H1e							21	28	25					6																	26156981		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156981A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.363A>T	6.37:g.26156981A>T	ENSP00000307705:p.Lys121Asn						p.K121N	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	423	+			121					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.363A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370645	0.24771	.	.	ENSG00000168298	ENST00000304218	T	0.17213	2.29	5.51	0.827	0.18835	.	0.259165	0.31922	N	0.006841	T	0.07188	0.0182	L	0.48642	1.525	0.45594	D	0.998531	B	0.20780	0.048	B	0.22601	0.04	T	0.13575	-1.0504	10	0.62326	D	0.03	-1.6611	11.6754	0.51427	0.3088:0.0:0.6912:0.0	.	121	P10412	H14_HUMAN	N	121	ENSP00000307705:K121N	ENSP00000307705:K121N	K	+	3	2	HIST1H1E	26264960	0.415000	0.25416	0.915000	0.36163	0.104000	0.19210	-0.038000	0.12144	0.146000	0.19002	0.459000	0.35465	AAA		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		17	160	0	0	0	1	0	17	160					T	26156981	A	T	26156981	3	4	29	1	0	0	0	0	1	0	0	0	7156	11	1	5	365	5	HIST1H1E	6	26156981	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08		26156981	144958086	45	3566	23	2									
HIST1H1E	3008	broad.mit.edu	37	chr6	26156982	26156982	+	Nonsense_Mutation	SNP	A	A	T													aagccaagcctaaggctaaaAaggcaggcgcggccaaggcc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:26156982A>T	ENST00000304218.3	+	1	424	c.364A>T	c.(364-366)Aag>Tag	p.K122*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TAAGGCTAAAAAGGCAGGCGC	0.647																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(364-366)Aag>Tag		histone cluster 1, H1e							20	27	25					6																	26156982		2203	4300	6503	SO:0001587	stop_gained	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156982A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.364A>T	6.37:g.26156982A>T	ENSP00000307705:p.Lys122*						p.K122*	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	424	+			122					Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	37	c.364A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.457181	0.63401	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.51	5.51	0.81932	.	0.179237	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8522	15.075	0.72071	1.0:0.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000307705:K122X	K	+	1	0	HIST1H1E	26264961	0.793000	0.28825	0.941000	0.38009	0.097000	0.18754	3.053000	0.49901	2.207000	0.71202	0.459000	0.35465	AAG		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		18	156	0	0	0	1	0	18	156					T	26156982	A	T	26156982	4	4	29	1	0	0	0	0	0	1	0	0	7156	15	1	5	366	5	HIST1H1E	6	26156982	Nonsense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	1	26156982	144958085	46	3567	23	2									
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			10	620						10	620	---	---	---	---	-	29573438	CAG	-	29573436	7	5	29	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-3A-A9IJ-01A-11D-A397-08	3416454	29573436	141541631	47	3568											
PPP1R10	5514	broad.mit.edu	37	chr6	30571900	30571900	+	Frame_Shift_Del	DEL	G	G	-													tgagggcagaaccaggggccGggggcacacccagggcacct							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:30571900delG	ENST00000376511.2	-	14	1945	c.1393delC	c.(1393-1395)cggfs	p.R465fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	465	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCAGGGGCCGGGGGCACACC	0.582																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1393-1395)ggfs		protein phosphatase 1, regulatory subunit 10							109	121	117					6																	30571900		2203	4300	6503	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571900delG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1393delC	6.37:g.30571900delG	ENSP00000365694:p.Arg465fs						p.R465fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			14	1945	-			465			Interaction with WDR82 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.1393delC	CCDS4681.1																																																																																				0.582	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	1201						7	1201	---	---	---	---	-	30571900	G	-	30571900	7	5	29	1	0	1	0	1	0	0	0	0	12399	1115	39	0	1457	0	PPP1R10	6	30571900	Frame_Shift_Del	DEL	G	TCGA-3A-A9IJ-01A-11D-A397-08	998464	30571900	140543167	48	3569											
C2	717	broad.mit.edu	37	chr6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagaaagcctgggccGtaaaatccaaatccagcgct	8	13	1	1	rs201130773		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0					ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(727-729)cGt>cAt		complement component 2							108	113	112					6																	31901955		2203	4300	6503	SO:0001583	missense	717							g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H	p.R243H	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	6	1004	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			6	872	0	0	0	1	0	6	872					A	31901955	G	A	31901955	3	1	29	1	0	0	0	0	1	0	0	0	2081	1145	40	1	827	1	C2	6	31901955	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	1330055	31901955	139213112	49	3570											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	877						7	877	---	---	---	---	T	31975224	-	T	31975223	6	5	29	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	73268	31975223	139139844	50	3571											
UBR2	23304	broad.mit.edu	37	chr6	42656112	42656112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtggctctggagtggGcatcttcctgaggtaaggac	14	10	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:42656112G>A	ENST00000372899.1	+	45	5270	c.5012G>A	c.(5011-5013)gGc>gAc	p.G1671D	UBR2_ENST00000372901.1_Missense_Mutation_p.G1671D|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1671					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTGGAGTGGGCATCTTCCTG	0.527																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5011-5013)gGc>gAc		ubiquitin protein ligase E3 component n-recognin 2							149	143	145					6																	42656112		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42656112G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5012G>A	6.37:g.42656112G>A	ENSP00000361990:p.Gly1671Asp					UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.G1671D	p.G1671D			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		45	5270	+	Colorectal(47;0.196)		1671					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.5012G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372810	0.95923	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.64438	-0.1;-0.1	5.87	5.87	0.94306	.	0.046236	0.85682	D	0.000000	D	0.83644	0.5299	M	0.92412	3.305	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	0.85923	0.1447	10	0.87932	D	0	-18.0926	20.5827	0.99408	0.0:0.0:1.0:0.0	.	259;1671;1671	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	D	1671	ENSP00000361990:G1671D;ENSP00000361992:G1671D	ENSP00000361990:G1671D	G	+	2	0	UBR2	42764090	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GGC		0.527	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		6	728	0	0	0	1	0	6	728					A	42656112	G	A	42656112	3	1	29	1	0	0	0	0	1	0	0	0	16956	1203	42	2	5336	2	UBR2	6	42656112	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	10680889	42656112	128458955	51	3572											
SOBP	55084	broad.mit.edu	37	chr6	107827554	107827554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggactcagtgactcacCtgcagggtcaaaggatcatg	11	9	4	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:107827554C>T	ENST00000317357.5	+	3	1003	c.344C>T	c.(343-345)cCt>cTt	p.P115L		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGTGACTCACCTGCAGGGTCA	0.448																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(343-345)cCt>cTt		sine oculis binding protein homolog (Drosophila)							217	207	210					6																	107827554		1919	4143	6062	SO:0001583	missense	55084						metal ion binding	g.chr6:107827554C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.344C>T	6.37:g.107827554C>T	ENSP00000318900:p.Pro115Leu						p.P115L	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	3	1003	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	115						Missense_Mutation	SNP	ENST00000317357.5	37	c.344C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288524	0.59976	.	.	ENSG00000112320	ENST00000317357	T	0.15718	2.4	5.24	5.24	0.73138	.	0.996520	0.08126	N	0.994002	T	0.19287	0.0463	L	0.29908	0.895	0.58432	D	0.999999	D	0.56287	0.975	P	0.54060	0.741	T	0.14783	-1.0460	10	0.66056	D	0.02	-1.0764	19.1981	0.93698	0.0:1.0:0.0:0.0	.	115	A7XYQ1	SOBP_HUMAN	L	115	ENSP00000318900:P115L	ENSP00000318900:P115L	P	+	2	0	SOBP	107934247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.479000	0.66813	2.615000	0.88500	0.655000	0.94253	CCT		0.448	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		8	967	0	0	0	1	0	8	967					T	107827554	C	T	107827554	3	4	29	1	0	0	0	0	1	0	0	0	14962	681	24	2	354	2	SOBP	6	107827554	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	65171442	107827554	63287513	52	3573											
PCLO	27445	broad.mit.edu	37	chr7	82387941	82387941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccagttgactattcTttttctgagatccactttgt	7	8	2	2	rs377710753		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:82387941T>C	ENST00000333891.9	-	25	15716	c.15379A>G	c.(15379-15381)Aga>Gga	p.R5127G		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						TTGACTATTCTTTTTCTGAGA	0.383																																						ENST00000333891.8																			0				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						c.(15379-15381)Aga>Gga		piccolo presynaptic cytomatrix protein							244	231	235					7																	82387941		1840	4084	5924	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.chr7:82387941T>C	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.15379A>G	7.37:g.82387941T>C	ENSP00000334319:p.Arg5127Gly						p.R5127G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			25	15716	-			5050						Missense_Mutation	SNP	ENST00000333891.9	37	c.15379A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139297	0.37728	.	.	ENSG00000186472	ENST00000333891	T	0.06768	3.26	5.51	5.51	0.81932	.	0.000000	0.43260	U	0.000582	T	0.17831	0.0428	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.02654	-1.1128	10	0.87932	D	0	.	15.6222	0.76816	0.0:0.0:0.0:1.0	.	5127	Q9Y6V0-5	.	G	5127	ENSP00000334319:R5127G	ENSP00000334319:R5127G	R	-	1	2	PCLO	82225877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.594000	0.46189	2.100000	0.63781	0.477000	0.44152	AGA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	962	0	0	0	1	0	6	962					C	82387941	T	C	82387941	3	2	29	1	0	0	0	0	1	0	0	0	11625	1617	56	4	53	4	PCLO	7	82387941	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08		82387941	76750722	53	3574											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	15	15	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			6	978	0	0	0	1	0	6	978					C	100028454	G	C	100028454	3	2	29	1	0	0	0	0	1	0	0	0	9518	962	34	5	815	5	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	17640513	100028454	59110209	54	3575											
HBP1	26959	broad.mit.edu	37	chr7	106822943	106822943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaaatacctcagacataCcagaaactacttaccgtgaa	4	12	1	3			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:106822943C>A	ENST00000222574.4	+	3	481	c.295C>A	c.(295-297)Cca>Aca	p.P99T	HBP1_ENST00000485846.1_Missense_Mutation_p.P99T|HBP1_ENST00000468410.1_Missense_Mutation_p.P99T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	99					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTCAGACATACCAGAAACTAC	0.428																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(295-297)Cca>Aca		HMG-box transcription factor 1							83	74	77					7																	106822943		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106822943C>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.295C>A	7.37:g.106822943C>A	ENSP00000222574:p.Pro99Thr					HBP1_ENST00000485846.1_Missense_Mutation_p.P99T|HBP1_ENST00000468410.1_Missense_Mutation_p.P99T	p.P99T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			3	481	+			99					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.295C>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231434	0.39399	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99005	-5.32;-5.32;-5.32	5.86	-0.71	0.11234	.	0.262100	0.33515	N	0.004821	D	0.93900	0.8048	N	0.08118	0	0.25791	N	0.984611	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.89009	0.3427	10	0.39692	T	0.17	-12.6153	5.9104	0.19025	0.1182:0.3496:0.0:0.5322	.	109;99;99	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	T	99;99;99;99;99;99;91	ENSP00000420500:P99T;ENSP00000222574:P99T;ENSP00000418738:P99T	ENSP00000222574:P99T	P	+	1	0	HBP1	106610179	0.937000	0.31787	0.966000	0.40874	0.987000	0.75469	-0.057000	0.11768	-0.348000	0.08286	-0.302000	0.09304	CCA		0.428	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		13	466	1	0	5.50884e-06	1	5.6988e-06	13	466					A	106822943	C	A	106822943	3	1	29	1	0	0	0	0	1	0	0	0	7015	507	18	3	301	3	HBP1	7	106822943	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	6794489	106822943	52315720	55	3576											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	276	0	0	0	1	0	5	276					G	114269973	A	G	114269973	2	3	29	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	7447030	114269973	44868690	56	3577											
WRN	7486	broad.mit.edu	37	chr8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctactaaagaagaagaagaAgatgatgaaaatgaagctaa	9	4	0	8	rs149565907	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:30945390A>T	ENST00000298139.5	+	12	1779	c.1530A>T	c.(1528-1530)gaA>gaT	p.E510D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		aagaagaagaagatgatgaaa	0.373			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	19	0.00379393	0.0	0.0	5008	,	,		18765	0.0169		0.0	False		,,,				2504	0.002				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1528-1530)gaA>gaT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		A	ASP/GLU	0,4406		0,0,2203	76	72	73		1530		0.9	8	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WRN	NM_000553.4	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	510/1433	30945390	1,13005	2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945390A>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1530A>T	8.37:g.30945390A>T	ENSP00000298139:p.Glu510Asp						p.E510D	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1779	+		Breast(100;0.195)	510			Poly-Glu.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1530A>T	CCDS6082.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	A	0.001	-3.733300	0.00005	0.0	1.16E-4	ENSG00000165392	ENST00000298139	T	0.43688	0.94	.	.	.	.	0.540108	0.15136	N	0.278577	T	0.05044	0.0135	N	0.00621	-1.32	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	8	0.02654	T	1	-5.6664	.	.	.	.	510	Q14191	WRN_HUMAN	D	510	ENSP00000298139:E510D	ENSP00000298139:E510D	E	+	3	2	WRN	31064932	0.898000	0.30612	0.889000	0.34880	0.359000	0.29487	-0.189000	0.09629	-1.869000	0.01141	-1.957000	0.00481	GAA		0.373	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	330	0	0	0	1	0	5	330					T	30945390	A	T	30945390	3	4	29	1	0	0	0	0	1	0	0	0	17456	69	3	5	1572	5	WRN	8	30945390	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08		30945390	115418632	57	3578											
MTSS1	9788	broad.mit.edu	37	chr8	125597329	125597329	+	Splice_Site	DEL	T	T	-													gcagaattttaggagttaccTttttttgctttcttctgcag							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:125597329delT	ENST00000518547.1	-	6	932	c.459delA	c.(457-459)aaa>aa	p.K153fs	MTSS1_ENST00000378017.3_Splice_Site_p.K153fs|MTSS1_ENST00000325064.5_Splice_Site_p.K153fs|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	153	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGAGTTACCTTTTTTTGCTT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.e6+1		metastasis suppressor 1							263	239	247					8																	125597329		2203	4300	6503	SO:0001630	splice_region_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597329delT	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1A>-	8.37:g.125597329delT						MTSS1_ENST00000378017.3_Splice_Site_p.K153_splice|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.K153_splice	p.K153_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	932	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		153	K -> KVDTL (in Ref. 2; AK027015).		IMD.		J3KNK6|Q8TCA2|Q96RX2	Splice_Site	DEL	ENST00000518547.1	37	c.460_splice	CCDS6353.1																																																																																				0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Frame_Shift_Del	7	726						7	726	---	---	---	---	-	125597329	T	-	125597329	8	5	29	1	0	1	0	1	0	0	1	0	10003	1623	56	0	1844	0	MTSS1	8	125597329	Splice_Site	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	94651939	125597329	20766693	58	3579											
SLC46A2	57864	broad.mit.edu	37	chr9	115652769	115652769	+	Frame_Shift_Del	DEL	C	C	-													ctgctgttggtcctctagagCcccccggggcgatgggctgg					rs563407701		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:115652769delC	ENST00000374228.4	-	1	424	c.193delG	c.(193-195)gctfs	p.A65fs		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	65					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCCTCTAGAGCCCCCCGGGGC	0.627																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(193-195)ctfs		solute carrier family 46, member 2							95	100	98					9																	115652769		2203	4300	6503	SO:0001589	frameshift_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652769delC	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.193delG	9.37:g.115652769delC	ENSP00000363345:p.Ala65fs						p.A65fs	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	424	-			65					B1ALK1|Q86VT0|Q96NE2	Frame_Shift_Del	DEL	ENST00000374228.4	37	c.193delG	CCDS6786.1																																																																																				0.627	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		7	798						7	798	---	---	---	---	-	115652769	C	-	115652769	7	5	29	1	0	1	0	1	0	0	0	0	14695	739	26	0	1250	0	SLC46A2	9	115652769	Frame_Shift_Del	DEL	C	TCGA-3A-A9IJ-01A-11D-A397-08		115652769	25560662	59	3580											
MAN1B1	11253	broad.mit.edu	37	chr9	139981660	139981660	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagagttggcggcggcgctCgtgctggagggtgagggtcg	21	8	0	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:139981660C>A	ENST00000371589.4	+	1	282	c.209C>A	c.(208-210)tCg>tAg	p.S70*	AL807752.1_ENST00000596585.1_5'Flank|MAN1B1_ENST00000474902.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	70					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CGGCGGCGCTCGTGCTGGAGG	0.721																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(208-210)tCg>tAg		mannosidase, alpha, class 1B, member 1							6	7	6					9																	139981660		2117	4164	6281	SO:0001587	stop_gained	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139981660C>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.209C>A	9.37:g.139981660C>A	ENSP00000360645:p.Ser70*						p.S70*	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	1	282	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	70					Q5VSG3|Q9BRS9|Q9Y5K7	Nonsense_Mutation	SNP	ENST00000371589.4	37	c.209C>A	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054181	0.93793	.	.	ENSG00000177239	ENST00000371589	.	.	.	3.34	2.43	0.29744	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3191	0.43756	0.0:0.8926:0.0:0.1074	.	.	.	.	X	70	.	ENSP00000360645:S70X	S	+	2	0	MAN1B1	139101481	0.878000	0.30173	0.999000	0.59377	0.966000	0.64601	0.715000	0.25822	1.862000	0.54008	0.455000	0.32223	TCG		0.721	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		3	57	1	0	0.00909568	1	0.00914649	3	57					A	139981660	C	A	139981660	4	1	29	1	0	0	0	0	0	1	0	0	9253	893	31	3	211	3	MAN1B1	9	139981660	Nonsense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	24328891	139981660	1231771	60	3581											
RET	5979	broad.mit.edu	37	chr10	43619215	43619215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaaccttctgaagacCggccaccggatggagaggcc	11	14	3	3	rs373693875		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:43619215C>T	ENST00000355710.3	+	17	3130	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	RET_ENST00000340058.5_Silent_p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	966	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T966T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCTGAAGACCGGCCACCGGA	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - coding silent(1)	p.T966T(1)	ovary(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2896-2898)acC>acT		ret proto-oncogene	Sunitinib(DB01268)	C	,	1,4405	2.1+/-5.4	0,1,2202	77	80	79		2898,2898	-10.3	0.3	10		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	966/1073,966/1115	43619215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619215C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2898C>T	10.37:g.43619215C>T						RET_ENST00000340058.5_Silent_p.T966T	p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3130	+		Ovarian(717;0.0423)	966			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2898C>T	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	502	0	0	0	1	0	6	502					T	43619215	C	T	43619215	2	4	29	1	0	0	0	0	0	0	0	1	13285	639	23	1		1	RET	10	43619215	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08		43619215	91915532	61	3582											
AGAP5	729092	broad.mit.edu	37	chr10	75457349	75457349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctcaccaacttcaacGgtcacctcagcaggctgcac	8	16	4	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:75457349G>A	ENST00000374094.4	-	1	205	c.165C>T	c.(163-165)acC>acT	p.T55T	AGAP5_ENST00000443782.2_Silent_p.T55T|RP11-464F9.1_ENST00000399449.3_RNA|RP11-574K11.28_ENST00000580790.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	55					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T55T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CAACTTCAACGGTCACCTCAG	0.582																																						ENST00000443782.2																			1	Substitution - coding silent(1)	p.T55T(1)	endometrium(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(163-165)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							136	120	125					10																	75457349		692	1591	2283	SO:0001819	synonymous_variant	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457349G>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.165C>T	10.37:g.75457349G>A						AGAP5_ENST00000374094.4_Silent_p.T55T|RP11-464F9.1_ENST00000399449.3_RNA	p.T55T			A6NIR3	AGAP5_HUMAN			1	290	-			55					A8MSN5	Silent	SNP	ENST00000374094.4	37	c.165C>T	CCDS44439.1																																																																																				0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		8	671	0	0	0	1	0	8	671					A	75457349	G	A	75457349	2	1	29	1	0	0	0	0	0	0	0	1	371	1103	39	1		1	AGAP5	10	75457349	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	31838134	75457349	60077398	62	3583											
LRIT2	340745	broad.mit.edu	37	chr10	85982168	85982168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccactcctccttagaggtGtcagccactgcaagccactc	7	16	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:85982168G>T	ENST00000372113.4	-	3	1166	c.1161C>A	c.(1159-1161)gaC>gaA	p.D387E	LRIT2_ENST00000538192.1_Missense_Mutation_p.D397E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	387	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCTTAGAGGTGTCAGCCACTG	0.527																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1159-1161)gaC>gaA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							84	75	78					10																	85982168		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982168G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1161C>A	10.37:g.85982168G>T	ENSP00000361185:p.Asp387Glu					LRIT2_ENST00000538192.1_Missense_Mutation_p.D397E	p.D387E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1166	-			387			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1161C>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149598	0.01714	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.59502	0.65;0.26	4.64	1.74	0.24563	Fibronectin, type III (1);	0.841424	0.10869	N	0.625201	T	0.38719	0.1051	L	0.32530	0.975	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.006	T	0.27706	-1.0066	10	0.09590	T	0.72	.	4.8852	0.13699	0.267:0.2589:0.4741:0.0	.	397;387	B7ZME6;A6NDA9	.;LRIT2_HUMAN	E	387;397	ENSP00000361185:D387E;ENSP00000438264:D397E	ENSP00000361185:D387E	D	-	3	2	LRIT2	85972148	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-1.554000	0.02172	0.151000	0.19162	-0.259000	0.10710	GAC		0.527	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		6	283	1	0	3.09899e-07	1	3.22438e-07	6	283					T	85982168	G	T	85982168	3	4	29	1	0	0	0	0	1	0	0	0	8986	1368	48	3	495	3	LRIT2	10	85982168	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	10524819	85982168	49552579	63	3584											
ABCC2	1244	broad.mit.edu	37	chr10	101553424	101553424	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttccaatttcagactctGatccggacactcttacaggt	6	12	3	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:101553424G>T	ENST00000370449.4	+	4	563	c.450G>T	c.(448-450)ctG>ctT	p.L150L	ABCC2_ENST00000370434.1_Silent_p.L150L|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	150					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L150L(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCAGACTCTGATCCGGACAC	0.448																																						ENST00000370449.4																			1	Substitution - coding silent(1)	p.L150L(1)	NS(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(448-450)ctG>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						147	135	139					10																	101553424		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101553424G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.450G>T	10.37:g.101553424G>T						ABCC2_ENST00000370434.1_Silent_p.L150L|ABCC2_ENST00000496621.1_3'UTR	p.L150L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	4	563	+		Colorectal(252;0.234)	150					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.450G>T	CCDS7484.1																																																																																				0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		125	178	1	0	6.44133e-54	1	6.98457e-54	125	178					T	101553424	G	T	101553424	2	4	29	1	0	0	0	0	0	0	0	1	53	1277	45	3		3	ABCC2	10	101553424	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	15571256	101553424	33981323	64	3585											
SCD	6319	broad.mit.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-													tccagatctctagctcctatAccaccaccaccaccattaca							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(43-45)del		stearoyl-CoA desaturase (delta-9-desaturase)																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	424_426	+		Colorectal(252;0.0323)	19					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		7	802						7	802	---	---	---	---	-	102107838	ACC	-	102107836	7	5	29	1	0	1	0	1	0	0	0	0	13936	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-3A-A9IJ-01A-11D-A397-08	554412	102107836	33426911	65	3586											
PWWP2B	170394	broad.mit.edu	37	chr10	134218478	134218478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcgtctgtcccgcaaCcgcgacccggggcgcctcat	14	18	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:134218478C>T	ENST00000305233.5	+	2	533	c.474C>T	c.(472-474)aaC>aaT	p.N158N	PWWP2B_ENST00000368609.4_Silent_p.N158N	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	158										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGTCCCGCAACCGCGACCCGG	0.721																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(472-474)aaC>aaT		PWWP domain containing 2B							6	6	6					10																	134218478		1900	3774	5674	SO:0001819	synonymous_variant	170394							g.chr10:134218478C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.474C>T	10.37:g.134218478C>T						PWWP2B_ENST00000368609.4_Silent_p.N158N	p.N158N	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	533	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	158					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.474C>T	CCDS7667.2																																																																																				0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		5	65	0	0	0	1	0	5	65					T	134218478	C	T	134218478	2	4	29	1	0	0	0	0	0	0	0	1	12896	506	18	2		2	PWWP2B	10	134218478	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	32110642	134218478	1316269	66	3587											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-													aggctcttgatggctatagtAaaaaaaagtacgtctgcaag							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		7	692						7	692	---	---	---	---	-	970195	A	-	970195	7	5	29	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-3A-A9IJ-01A-11D-A397-08		970195	134036321	67	3588											
MUC5B	727897	broad.mit.edu	37	chr11	1266204	1266204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacggccactacgatcacGgccaccggctccaccaccaa	7	20	1	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:1266204G>A	ENST00000529681.1	+	31	8152	c.8094G>A	c.(8092-8094)acG>acA	p.T2698T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2701T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2698	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		ctacgatcacggccaccggct	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8101-8103)acG>acA		mucin 5B, oligomeric mucus/gel-forming							16	28	24					11																	1266204		1720	3791	5511	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266204G>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		ENST00000529681.1:c.8094G>A	11.37:g.1266204G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2698T	p.T2701T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8161	+		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)	2698	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8103G>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	32	0	0	0	1	0	3	32					A	1266204	G	A	1266204	2	1	29	1	0	0	0	0	0	0	0	1	10020	1103	39	1		1	MUC5B	11	1266204	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	296009	1266204	133740312	68	3589											
MUC5B	727897	broad.mit.edu	37	chr11	1269953	1269953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtactcccccatcactgaTcaccacggccactacgatca	6	17	3	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:1269953T>C	ENST00000529681.1	+	31	11901	c.11843T>C	c.(11842-11844)aTc>aCc	p.I3948T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I3951T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3948	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		ccatcactgatcaccacggcc	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11851-11853)aTc>aCc		mucin 5B, oligomeric mucus/gel-forming							142	172	162					11																	1269953		2050	4055	6105	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269953T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11843T>C	11.37:g.1269953T>C	ENSP00000436812:p.Ile3948Thr					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.I3948T	p.I3951T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11910	+		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)	3948			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11852T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.962	-0.214480	0.06101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21191	2.02;2.21	2.72	-1.46	0.08800	.	.	.	.	.	T	0.03434	0.0099	N	0.00082	-2.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.87932	D	0	.	2.2978	0.04154	0.1875:0.5009:0.1845:0.1271	.	3951	E9PBJ0	.	T	3948;3951;3892	ENSP00000436812:I3948T;ENSP00000415793:I3951T	ENSP00000343037:I3892T	I	+	2	0	MUC5B	1226529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.432000	0.21461	-0.135000	0.11495	-0.817000	0.03123	ATC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	65	0	0	0	1	0	4	65					C	1269953	T	C	1269953	3	2	29	1	0	0	0	0	1	0	0	0	10020	1435	50	4	11974	4	MUC5B	11	1269953	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	3749	1269953	133736563	69	3590											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	467						7	467	---	---	---	---	-	30034031	TGG	-	30034029	7	5	29	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-3A-A9IJ-01A-11D-A397-08	28764076	30034029	104972487	70	3591											
SHANK2	22941	broad.mit.edu	37	chr11	70319016	70319016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccctttctatgttcatTctgtgcccgactcgagttac	7	12	3	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:70319016T>C	ENST00000423696.2	-	16	4407	c.4371A>G	c.(4369-4371)agA>agG	p.R1457R	SHANK2_ENST00000409161.1_Silent_p.R1240R|SHANK2_ENST00000449833.2_Silent_p.R1241R|SHANK2_ENST00000338508.4_Silent_p.R1837R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1457	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTATGTTCATTCTGTGCCCGA	0.502																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5509-5511)agA>agG		SH3 and multiple ankyrin repeat domains 2							213	217	216					11																	70319016		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319016T>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4371A>G	11.37:g.70319016T>C						SHANK2_ENST00000449833.2_Silent_p.R1241R|SHANK2_ENST00000409161.1_Silent_p.R1240R|SHANK2_ENST00000423696.2_Silent_p.R1457R	p.R1837R			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5510	-			1457					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.5511A>G																																																																																					0.502	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		8	851	0	0	0	1	0	8	851					C	70319016	T	C	70319016	2	2	29	1	0	0	0	0	0	0	0	1	14315	1780	62	4		4	SHANK2	11	70319016	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	40284987	70319016	64687500	71	3592											
ATG16L2	89849	broad.mit.edu	37	chr11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-													cgcactgagggtgaagtggcAggaggaggaggaggggctcc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.E98del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	98					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(280-285)cag>c		autophagy related 16-like 2 (S. cerevisiae)																																				SO:0001651	inframe_deletion	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528863_72528865delAGG	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.281_283delAGG	11.37:g.72528872_72528874delAGG	ENSP00000326340:p.Glu98del					ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	419_421	+			94					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	In_Frame_Del	DEL	ENST00000321297.5	37	c.281_283delAGG	CCDS31634.1																																																																																				0.591	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		7	197						7	197	---	---	---	---	-	72528865	AGG	-	72528863	7	5	29	1	0	1	0	1	0	0	0	0	1093	188	7	0	291	0	ATG16L2	11	72528863	In_Frame_Del	DEL	AGG	TCGA-3A-A9IJ-01A-11D-A397-08	2209847	72528863	62477653	72	3593											
GRIN2B	2904	broad.mit.edu	37	chr12	13716939	13716939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgctgcttacgcctcttgGcggcattgccctcgatgttc	10	13	1	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:13716939G>A	ENST00000609686.1	-	13	3442	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1078					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGCCTCTTGGCGGCATTGCC	0.592																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3232-3234)gCc>gTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						56	49	52					12																	13716939		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716939G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3233C>T	12.37:g.13716939G>A	ENSP00000477455:p.Ala1078Val						p.A1078V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3442	-			1078					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3233C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694034	0.68386	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.39	5.39	0.77823	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.177847	0.49916	D	0.000125	T	0.14787	0.0357	N	0.22421	0.69	0.42777	D	0.993852	P	0.51449	0.945	P	0.47673	0.554	T	0.09228	-1.0684	10	0.20046	T	0.44	.	19.1533	0.93499	0.0:0.0:1.0:0.0	.	1078	Q13224	NMDE2_HUMAN	V	1078	ENSP00000279593:A1078V	ENSP00000279593:A1078V	A	-	2	0	GRIN2B	13608206	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	9.377000	0.97184	2.531000	0.85337	0.650000	0.86243	GCC		0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	200	0	0	0	1	0	9	200					A	13716939	G	A	13716939	3	1	29	1	0	0	0	0	1	0	0	0	6810	1203	42	2	1225	2	GRIN2B	12	13716939	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08		13716939	120134956	73	3594											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	411						7	411	---	---	---	---	-	46318577	GGT	-	46318575	7	5	29	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-3A-A9IJ-01A-11D-A397-08	32601636	46318575	87533320	74	3595											
MAP3K12	7786	broad.mit.edu	37	chr12	53875859	53875859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaccgctcatctggccGctcatcagtgttggtgctgc	11	13	5	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:53875859G>A	ENST00000267079.2	-	14	2572	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R816W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R816W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	783					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCATCTGGCCGCTCATCAGTG	0.577											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2347-2349)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 12							159	139	146					12																	53875859		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875859G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2347C>T	12.37:g.53875859G>A	ENSP00000267079:p.Arg783Trp		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R816W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R816W	p.R783W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			14	2572	-			783					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2347C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842214	0.71488	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.14640	2.49;2.49;2.49	4.37	3.45	0.39498	.	0.000000	0.41097	D	0.000956	T	0.26991	0.0661	L	0.40543	1.245	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.02059	-1.1221	10	0.59425	D	0.04	.	13.2901	0.60267	0.0:0.0:0.8396:0.1604	.	816;783	G3V1Y2;Q12852	.;M3K12_HUMAN	W	783;816;816	ENSP00000267079:R783W;ENSP00000449038:R816W;ENSP00000448689:R816W	ENSP00000267079:R783W	R	-	1	2	MAP3K12	52162126	0.872000	0.30054	1.000000	0.80357	0.984000	0.73092	2.006000	0.40874	1.387000	0.46486	0.491000	0.48974	CGG		0.577	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		5	583	0	0	0	1	0	5	583					A	53875859	G	A	53875859	3	1	29	1	0	0	0	0	1	0	0	0	9287	1086	38	1	240	1	MAP3K12	12	53875859	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	7557284	53875859	79976036	75	3596											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	987						9	987	---	---	---	---	-	55615116	CTT	-	55615114	7	5	29	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-3A-A9IJ-01A-11D-A397-08	1739255	55615114	78236781	76	3597											
NACA	4666	broad.mit.edu	37	chr12	57111688	57111688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggggatggggtagctAgacctccttttggggaggga	18	6	0	1	rs533157907	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:57111688A>G	ENST00000454682.1	-	3	3907	c.3626T>C	c.(3625-3627)cTa>cCa	p.L1209P	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1209	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGTAGCTAGACCTCCTTT	0.637			T	BCL6	NHL								a|||	3	0.000599042	0.0008	0.0	5008	,	,		7321	0.001		0.001	False		,,,				2504	0.0					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3625-3627)cTa>cCa		nascent polypeptide-associated complex alpha subunit							63	74	71					12																	57111688		1226	2862	4088	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111688A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3626T>C	12.37:g.57111688A>G	ENSP00000403817:p.Leu1209Pro					NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	p.L1209P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3907	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3626T>C		.	.	.	.	.	.	.	.	.	.	a	0.422	-0.907813	0.02434	.	.	ENSG00000196531	ENST00000454682	T	0.46451	0.87	.	.	.	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.09310	N	0.999996	P	0.51240	0.943	P	0.55011	0.766	T	0.32241	-0.9914	5	.	.	.	.	.	.	.	.	1209	E9PAV3	.	P	1209	ENSP00000403817:L1209P	.	L	-	2	0	NACA	55397955	0.001000	0.12720	0.029000	0.17559	0.104000	0.19210	-0.511000	0.06321	0.103000	0.17682	0.102000	0.15555	CTA		0.637	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	700	0	0	0	1	0	6	700					G	57111688	A	G	57111688	3	3	29	1	0	0	0	0	1	0	0	0	10174	420	15	4	2638	4	NACA	12	57111688	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	1496574	57111688	76740207	77	3598											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551828	100551830	+	RNA	DEL	CCT	CCT	-													gcttggcatgggctgaggcaCctcctcctcctcctcactgt							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:100551828_100551830delCCT	ENST00000397112.4	-	0	1625_1627				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGCTGAGGCACCTCCTCCTCCTC	0.635																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100551828_100551830delCCT																													12.37:g.100551837_100551839delCCT								NR_036632.1						0	1625_1627	-								Q9NSV2	RNA	DEL	ENST00000397112.4	37																																																																																						0.635	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			7	134						7	134	---	---	---	---	-	100551830	CCT	-	100551828	6	5	29	0	1	1	0	1	0	0	0	0	6582	507	18	0		0	GOLGA2B	12	100551828	RNA	DEL	CCT	TCGA-3A-A9IJ-01A-11D-A397-08	43440140	100551828	33300067	78	3599											
RASAL1	8437	broad.mit.edu	37	chr12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-													caggtgcaccgtgtactcctCcccccagaaggggcccaggc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:113565943delC	ENST00000261729.5	-	4	478	c.163delG	c.(163-165)gagfs	p.E56fs	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000546530.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTACTCCTCCCCCCAGAAG	0.617																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)agfs		RAS protein activator like 1 (GAP1 like)							182	182	182					12																	113565943		2203	4300	6503	SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565943delC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.163delG	12.37:g.113565943delC	ENSP00000261729:p.Glu56fs					RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs	p.E56fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			4	448	-			56			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Del	DEL	ENST00000261729.5	37	c.163delG	CCDS9165.1																																																																																				0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		7	1483						7	1483	---	---	---	---	-	113565943	C	-	113565943	7	5	29	1	0	1	0	1	0	0	0	0	13113	864	30	0	2327	0	RASAL1	12	113565943	Frame_Shift_Del	DEL	C	TCGA-3A-A9IJ-01A-11D-A397-08	13014115	113565943	20285952	79	3600											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228837	124228837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttttatttgccctcTtgttggtgttaaatgaaaat	8	4	1	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:124228837T>C	ENST00000330342.3	+	11	1527	c.1279T>C	c.(1279-1281)Ttg>Ctg	p.L427L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	427					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGCCCTCTTGTTGGTGTT	0.388																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1279-1281)Ttg>Ctg		ATPase, H+ transporting, lysosomal V0 subunit a2							193	171	178					12																	124228837		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124228837T>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1279T>C	12.37:g.124228837T>C							p.L427L	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	11	1527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		427					A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.1279T>C	CCDS9254.1																																																																																				0.388	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		8	652	0	0	0	1	0	8	652					C	124228837	T	C	124228837	2	2	29	1	0	0	0	0	0	0	0	1	1170	1606	56	4		4	ATP6V0A2	12	124228837	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	10662894	124228837	9623058	80	3601											
HMGB1	3146	broad.mit.edu	37	chr13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttattcatcatcatcatcTtcttcttcatcttcatcttc	0	13	11	0	rs200836895	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0.0	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(628-630)gaA>gaT		high mobility group box 1							20	25	23					13																	31035512		1894	4135	6029	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035512T>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp					HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR	p.E210D			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1570	-		Lung SC(185;0.0257)	210			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.630A>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA		0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		5	194	0	0	0	1	0	5	194					A	31035512	T	A	31035512	3	1	29	1	0	0	0	0	1	0	0	0	7255	1606	56	5	21	5	HMGB1	13	31035512	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08		31035512	84134366	81	3602											
INTS6	26512	broad.mit.edu	37	chr13	51956195	51956195	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggaggcattgtcttcaaAtaactttcaaatgactgtct	8	7	4	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:51956195A>G	ENST00000311234.4	-	10	1717	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	INTS6_ENST00000490542.1_Silent_p.Y99Y|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Silent_p.Y237Y|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000398119.2_Silent_p.Y402Y	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	415					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTGTCTTCAAATAACTTTCAA	0.393																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1243-1245)taT>taC		integrator complex subunit 6							71	67	69					13																	51956195		2203	4300	6503	SO:0001819	synonymous_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51956195A>G	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1245T>C	13.37:g.51956195A>G						INTS6_ENST00000497989.1_Silent_p.Y237Y|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000490542.1_Silent_p.Y99Y|INTS6_ENST00000398119.2_Silent_p.Y402Y|INTS6_ENST00000463928.1_Intron	p.Y415Y	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	10	1717	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	415					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	c.1245T>C	CCDS9428.1																																																																																				0.393	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		12	292	0	0	0	1	0	12	292					G	51956195	A	G	51956195	2	3	29	1	0	0	0	0	0	0	0	1	7812	108	4	4		4	INTS6	13	51956195	Silent	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	20920683	51956195	63213683	82	3603											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	426						7	426	---	---	---	---	-	88329796	CGG	-	88329794	7	5	29	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-3A-A9IJ-01A-11D-A397-08	36373599	88329794	26840084	83	3604											
APEX1	328	broad.mit.edu	37	chr14	20925506	20925506	+	Frame_Shift_Del	DEL	T	T	-													acacaccctatgcctacaccTtttggacttatatgatgaat							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:20925506delT	ENST00000216714.3	+	5	1064	c.796delT	c.(796-798)tttfs	p.F266fs	APEX1_ENST00000398030.4_Frame_Shift_Del_p.F266fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Frame_Shift_Del_p.F266fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	266					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGCCTACACCTTTTGGACTTA	0.502								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(796-798)ttfs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						227	195	206					14																	20925506		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925506delT	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.796delT	14.37:g.20925506delT	ENSP00000216714:p.Phe266fs					APEX1_ENST00000398030.4_Frame_Shift_Del_p.F266fs|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000555414.1_Frame_Shift_Del_p.F266fs	p.F266fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1064	+	all_cancers(95;0.00123)	all_lung(585;0.235)	266					Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.796delT	CCDS9550.1																																																																																				0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		7	834						7	834	---	---	---	---	-	20925506	T	-	20925506	7	5	29	1	0	1	0	1	0	0	0	0	769	1609	56	0	810	0	APEX1	14	20925506	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08		20925506	86424034	84	3605											
SALL2	6297	broad.mit.edu	37	chr14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-													gaggctgatccaggctgtcaGgtggtggtggtggtggcaaa					rs113881459|rs569568436		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		7	540						7	540	---	---	---	---	-	21991336	GGT	-	21991334	7	5	29	1	0	1	0	1	0	0	0	0	13861	1000	35	0	499	0	SALL2	14	21991334	In_Frame_Del	DEL	GGT	TCGA-3A-A9IJ-01A-11D-A397-08	1065828	21991334	85358206	85	3606											
ACIN1	22985	broad.mit.edu	37	chr14	23530745	23530745	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaccgggggtgggggTggggggtgcaggggccgtgg	28	6	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000605057.1_Silent_p.P1062P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3358-3360)ccA>ccC		apoptotic chromatin condensation inducer 1							7	10	9					14																	23530745		2074	3973	6047	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530745T>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3360A>C	14.37:g.23530745T>G						ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000397341.3_Silent_p.P362P	p.P1120P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3687	-	all_cancers(95;1.36e-05)		1120			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3360A>C	CCDS9587.1																																																																																				0.657	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	92	0	0	0	1	0	7	92					G	23530745	T	G	23530745	2	3	29	1	0	0	0	0	0	0	0	1	142	1683	59	4		4	ACIN1	14	23530745	Silent	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	1539411	23530745	83818795	86	3607											
PCK2	5106	broad.mit.edu	37	chr14	24572757	24572757	+	Frame_Shift_Del	DEL	T	T	-													acccatttgccatgcggcccTtttttggctacaacttcggg							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:24572757delT	ENST00000216780.4	+	10	1775	c.1507delT	c.(1507-1509)tttfs	p.F504fs	PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs|PCK2_ENST00000545054.2_Frame_Shift_Del_p.F370fs|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	504					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CATGCGGCCCTTTTTTGGCTA	0.577																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1105-1107)ttfs		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							76	76	76					14																	24572757		2203	4300	6503	SO:0001589	frameshift_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572757delT	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1507delT	14.37:g.24572757delT	ENSP00000216780:p.Phe504fs					PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Frame_Shift_Del_p.F504fs|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs|NRL_ENST00000561028.1_Intron	p.F370fs			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2023	+			504					O43253|Q86U01|Q9BV62	Frame_Shift_Del	DEL	ENST00000216780.4	37	c.1105delT	CCDS9609.1																																																																																				0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		7	588						7	588	---	---	---	---	-	24572757	T	-	24572757	7	5	29	1	0	1	0	1	0	0	0	0	11624	1609	56	0	1637	0	PCK2	14	24572757	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	1042012	24572757	82776783	87	3608											
GMPR2	51292	broad.mit.edu	37	chr14	24702713	24702713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagatccttttcatttcGgaactcaaagcagacatact	5	11	2	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:24702713G>A	ENST00000355299.4	+	3	577	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	NEDD8-MDP1_ENST00000534348.1_5'Flank|GMPR2_ENST00000559836.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.R57Q|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000348719.7_Missense_Mutation_p.R39Q|NEDD8_ENST00000533242.1_5'Flank|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000420554.2_Missense_Mutation_p.R57Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.R39Q|GMPR2_ENST00000399440.2_Missense_Mutation_p.R39Q|NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000557854.1_Missense_Mutation_p.R57Q	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	39					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TTTTCATTTCGGAACTCAAAG	0.438																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(169-171)cGg>cAg		guanosine monophosphate reductase 2							94	94	94					14																	24702713		1957	4185	6142	SO:0001583	missense	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24702713G>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.116G>A	14.37:g.24702713G>A	ENSP00000347449:p.Arg39Gln					GMPR2_ENST00000399440.2_Missense_Mutation_p.R39Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.R57Q|GMPR2_ENST00000559836.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.R57Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.R39Q|GMPR2_ENST00000355299.4_Missense_Mutation_p.R39Q|GMPR2_ENST00000348719.7_Missense_Mutation_p.R39Q	p.R57Q			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	447	+			39					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.170G>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	37	5.984694	0.97173	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.72	5.72	0.89469	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.114481	0.64402	D	0.000020	D	0.82421	0.5033	M	0.78285	2.405	0.80722	D	1	P;D;P;D;D	0.61080	0.841;0.989;0.94;0.983;0.982	B;P;B;P;B	0.46659	0.382;0.523;0.352;0.484;0.388	D	0.85296	0.1070	10	0.72032	D	0.01	-0.416	18.6522	0.91433	0.0:0.0:1.0:0.0	.	39;39;57;39;39	Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;GMPR2_HUMAN	Q	39;39;57;39;39;39	ENSP00000347449:R39Q;ENSP00000392859:R57Q;ENSP00000382369:R39Q;ENSP00000334409:R39Q;ENSP00000405743:R39Q	ENSP00000334409:R39Q	R	+	2	0	GMPR2	23772553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.007000	0.93597	2.700000	0.92200	0.563000	0.77884	CGG		0.438	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		5	516	0	0	0	1	0	5	516					A	24702713	G	A	24702713	3	1	29	1	0	0	0	0	1	0	0	0	6526	1116	39	1	176	1	GMPR2	14	24702713	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	129956	24702713	82646827	88	3609											
AKAP5	9495	broad.mit.edu	37	chr14	64935683	64935683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggcatctcacggaaagatGgtgatgaggtctgtgaatca	13	6	3	4			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:64935683G>C	ENST00000394718.4	+	2	949	c.571G>C	c.(571-573)Ggt>Cgt	p.G191R	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.G191R	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	191					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ACGGAAAGATGGTGATGAGGT	0.408																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(571-573)Ggt>Cgt		A kinase (PRKA) anchor protein 5							103	107	106					14																	64935683		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935683G>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.571G>C	14.37:g.64935683G>C	ENSP00000378207:p.Gly191Arg					ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.G191R|ZBTB25_ENST00000555220.1_Intron	p.G191R			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	1859	+			191					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.571G>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409592	0.11812	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.29397	1.57;1.57	5.57	2.73	0.32206	.	0.569967	0.16654	N	0.205084	T	0.37046	0.0989	L	0.46157	1.445	0.09310	N	1	P	0.50443	0.935	P	0.52710	0.707	T	0.11446	-1.0587	10	0.66056	D	0.02	-1.9643	9.8993	0.41338	0.235:0.0:0.765:0.0	.	191	P24588	AKAP5_HUMAN	R	191	ENSP00000378207:G191R;ENSP00000315615:G191R	ENSP00000315615:G191R	G	+	1	0	AKAP5	64005436	0.000000	0.05858	0.007000	0.13788	0.093000	0.18481	-0.031000	0.12287	0.848000	0.35191	0.650000	0.86243	GGT		0.408	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			6	492	0	0	0	1	0	6	492					C	64935683	G	C	64935683	3	2	29	1	0	0	0	0	1	0	0	0	454	1348	47	5	573	5	AKAP5	14	64935683	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	40232970	64935683	42413857	89	3610											
COX16	51241	broad.mit.edu	37	chr14	70826257	70826257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatggggactccatagccGagagtcttgttcttgcgaaa	11	9	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:70826257G>A	ENST00000389912.6	-	1	191	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RNU2-51P_ENST00000410708.1_RNA|COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	16						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						CTCCATAGCCGAGAGTCTTGT	0.577																																						ENST00000389912.6																			0				large_intestine(1)|lung(2)	3						c.(46-48)ctC>ctT		COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							88	75	79					14																	70826257		2203	4300	6503	SO:0001819	synonymous_variant	51241							g.chr14:70826257G>A	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 112"	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.48C>T	14.37:g.70826257G>A						RP11-718G2.3_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	p.L16L	NM_016468.6	NP_057552.1					1	191	-								A6NDT5|A8K3X8	Silent	SNP	ENST00000389912.6	37	c.48C>T	CCDS9802.1																																																																																				0.577	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		14	285	0	0	0	1	0	14	285					A	70826257	G	A	70826257	2	1	29	1	0	0	0	0	0	0	0	1	3774	1045	37	1		1	COX16	14	70826257	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	5890574	70826257	36523283	90	3611											
ADAM20	8748	broad.mit.edu	37	chr14	70989431	70989431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacatttaatccttccaTgttgttcttaggaggtgggc	9	9	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:70989431T>C	ENST00000256389.3	-	2	2438	c.2194A>G	c.(2194-2196)Atg>Gtg	p.M732V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	682					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AATCCTTCCATGTTGTTCTTA	0.428																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2194-2196)Atg>Gtg		ADAM metallopeptidase domain 20							326	262	284					14																	70989431		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989431T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2194A>G	14.37:g.70989431T>C	ENSP00000256389:p.Met732Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.M732V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2438	-			682					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2194A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.880112	0.00537	.	.	ENSG00000134007	ENST00000256389	T	0.00840	5.63	1.25	-2.51	0.06365	.	2.670110	0.02477	N	0.088147	T	0.00552	0.0018	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	10	0.29301	T	0.29	.	0.0685	0.00019	0.2456:0.2078:0.2467:0.2999	.	682	O43506	ADA20_HUMAN	V	732	ENSP00000256389:M732V	ENSP00000256389:M732V	M	-	1	0	ADAM20	70059184	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.248000	0.08854	-1.342000	0.02222	-0.281000	0.10026	ATG		0.428	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			6	796	0	0	0	1	0	6	796					C	70989431	T	C	70989431	3	2	29	1	0	0	0	0	1	0	0	0	242	1464	51	4	140	4	ADAM20	14	70989431	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08	163174	70989431	36360109	91	3612											
KIAA0317	9870	broad.mit.edu	37	chr14	75139533	75139533	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatgaaattttacctaCcgattccaacaaggcatgtc	7	10	0	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:75139533C>T	ENST00000356357.4	-	11	1938		c.e11+1		AREL1_ENST00000557401.1_Splice_Site	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						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)										ATTTTACCTACCGATTCCAAC	0.403																																						ENST00000356357.4																			0											c.e11+1		apoptosis resistant E3 ubiquitin protein ligase 1							148	141	143					14																	75139533		1881	4101	5982	SO:0001630	splice_region_variant	9870							g.chr14:75139533C>T	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.1422+1G>A	14.37:g.75139533C>T						AREL1_ENST00000557401.1_Splice_Site		NM_001039479.1	NP_001034568.1					11	1938	-								B4E2C7|Q7LDY1|Q8IYY9	Splice_Site	SNP	ENST00000356357.4	37		CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721070	0.68959	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0317	74209286	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	7.365000	0.79537	2.941000	0.99782	0.655000	0.94253	.		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	Intron	8	847	0	0	0	1	0	8	847					T	75139533	C	T	75139533	5	4	29	1	0	0	0	0	0	0	1	0	8197	521	18	2	1088	2	KIAA0317	14	75139533	Splice_Site	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	4150102	75139533	32210007	92	3613											
VIPAR	63894	broad.mit.edu	37	chr14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccctcgtgggttgagCcgctattaccagcagtctct	10	15	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259	204	222					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		7	968	0	0	0	1	0	7	968					T	77917637	C	T	77917637	3	4	29	1	0	0	0	0	1	0	0	0	17222	739	26	2	1313	2	VIPAR	14	77917637	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	2778104	77917637	29431903	93	3614											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	384						10	384	---	---	---	---	T	96783572	-	T	96783571	7	5	29	1	0	1	1	0	0	0	0	0	1095	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	18865934	96783571	10565969	94	3615											
GABRB3	2562	broad.mit.edu	37	chr15	26793020	26793020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggaccatctgtctaTggcattcacatcggttagat	9	10	3	1	rs377215030		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:26793020T>C	ENST00000311550.5	-	9	1453	c.1342A>G	c.(1342-1344)Ata>Gta	p.I448V	GABRB3_ENST00000299267.4_Missense_Mutation_p.I448V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I377V|GABRB3_ENST00000541819.2_Missense_Mutation_p.I504V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I363V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	448					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCTGTCTATGGCATTCACA	0.428																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1510-1512)Ata>Gta		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	124	102	110		1342,1087,1129,1342	6	1	15		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	29,29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	448/474,363/389,377/403,448/474	26793020	1,13005	2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793020T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1342A>G	15.37:g.26793020T>C	ENSP00000308725:p.Ile448Val					GABRB3_ENST00000400188.3_Missense_Mutation_p.I377V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I448V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I363V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I448V	p.I504V			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	10	1612	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	448					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1510A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594927	0.66219	0.0	1.16E-4	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93455	0.7912	M	0.80508	2.5	0.80722	D	1	P;P;P	0.43392	0.805;0.671;0.718	P;B;P	0.49597	0.616;0.254;0.447	D	0.93761	0.7067	10	0.59425	D	0.04	.	15.7393	0.77876	0.0:0.0:0.0:1.0	.	504;448;448	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	448;504;448;377;363	ENSP00000308725:I448V;ENSP00000442408:I504V;ENSP00000299267:I448V;ENSP00000383049:I377V;ENSP00000439169:I363V	ENSP00000299267:I448V	I	-	1	0	GABRB3	24344113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.926000	0.87569	2.308000	0.77769	0.533000	0.62120	ATA		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	499	0	0	0	1	0	19	499					C	26793020	T	C	26793020	3	2	29	1	0	0	0	0	1	0	0	0	6195	1464	51	4	83	4	GABRB3	15	26793020	Missense_Mutation	SNP	T	TCGA-3A-A9IJ-01A-11D-A397-08		26793020	75738372	95	3616											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	475						7	475	---	---	---	---	-	59144134	GCT	-	59144132	7	5	29	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-3A-A9IJ-01A-11D-A397-08	32351112	59144132	43387260	96	3617											
ZNF609	23060	broad.mit.edu	37	chr15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A													aggacaagaaaaagaaagacINSaaaaaaaagaaggaatcttc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.49	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		11	874						11	874	---	---	---	---	A	64967247	-	A	64967246	7	5	29	1	0	1	1	0	0	0	0	0	18088	477	17	0	2207	0	ZNF609	15	64967246	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	5823114	64967246	37564146	97	3618											
CYP1A1	1543	broad.mit.edu	37	chr15	75013810	75013810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaccaaatacatgagGctccaggagatagcagttgt	9	9	2	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:75013810G>A	ENST00000379727.3	-	4	1185	c.987C>T	c.(985-987)agC>agT	p.S329S	CYP1A1_ENST00000395049.4_Silent_p.S329S|CYP1A1_ENST00000567032.1_Silent_p.S329S|CYP1A1_ENST00000395048.2_Silent_p.S329S|CYP1A1_ENST00000564596.1_Silent_p.S68S			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	329					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AATACATGAGGCTCCAGGAGA	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(985-987)agC>agT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						98	86	90					15																	75013810		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013810G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.987C>T	15.37:g.75013810G>A						CYP1A1_ENST00000567032.1_Silent_p.S329S|CYP1A1_ENST00000395049.4_Silent_p.S329S|CYP1A1_ENST00000395048.2_Silent_p.S329S|CYP1A1_ENST00000564596.1_Silent_p.S68S	p.S329S			P04798	CP1A1_HUMAN			4	1185	-			329					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.987C>T	CCDS10268.1																																																																																				0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		43	265	0	0	0	1	0	43	265					A	75013810	G	A	75013810	2	1	29	1	0	0	0	0	0	0	0	1	4160	1194	42	2		2	CYP1A1	15	75013810	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	10046564	75013810	27517582	98	3619											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	661						8	661	---	---	---	---	-	15729984	CCA	-	15729982	7	5	29	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-3A-A9IJ-01A-11D-A397-08		15729982	74624771	99	3620											
ABCC6	368	broad.mit.edu	37	chr16	16295884	16295884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaccaggccagtgatggCcgaccgcaacctcatctgca	10	15	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:16295884C>T	ENST00000205557.7	-	9	1179	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGTGATGGCCGACCGCAAC	0.572																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1150-1152)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							101	85	91					16																	16295884		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16295884C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1150G>A	16.37:g.16295884C>T	ENSP00000205557:p.Ala384Thr					ABCC6_ENST00000574094.1_5'UTR	p.A384T	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	9	1179	-			384			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1150G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643369	0.67244	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89485	-2.52;-2.52	4.33	4.33	0.51752	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.47093	U	0.000258	D	0.92899	0.7741	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.66056	D	0.02	.	13.8144	0.63283	0.0:1.0:0.0:0.0	.	396;384	F5GWQ0;O95255	.;MRP6_HUMAN	T	384;384;396	ENSP00000205557:A384T;ENSP00000405002:A384T	ENSP00000205557:A384T	A	-	1	0	ABCC6	16203385	1.000000	0.71417	0.073000	0.20177	0.135000	0.20990	6.765000	0.74965	1.961000	0.56991	0.485000	0.47835	GCC		0.572	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			8	516	0	0	0	1	0	8	516					T	16295884	C	T	16295884	3	4	29	1	0	0	0	0	1	0	0	0	57	739	26	2	3453	2	ABCC6	16	16295884	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	565902	16295884	74058869	100	3621											
TMC7	79905	broad.mit.edu	37	chr16	19067868	19067868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtcctggcagcatcCcttcctcgaaagcctgtggg	12	13	1	0	rs199702842		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:19067868C>T	ENST00000304381.5	+	14	2006	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	TMC7_ENST00000569532.1_Missense_Mutation_p.P626S|TMC7_ENST00000421369.3_Missense_Mutation_p.P516S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	626					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGCAGCATCCCTTCCTCGAA	0.577																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1546-1548)Cct>Tct		transmembrane channel-like 7							148	108	122					16																	19067868		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19067868C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1876C>T	16.37:g.19067868C>T	ENSP00000304710:p.Pro626Ser					TMC7_ENST00000569532.1_Missense_Mutation_p.P626S|TMC7_ENST00000304381.5_Missense_Mutation_p.P626S	p.P516S	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			14	2104	+			626					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1546C>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811986	0.32053	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72505	-0.57;-0.66	5.8	5.8	0.92144	.	0.185456	0.48767	D	0.000161	T	0.66597	0.2805	L	0.53561	1.675	0.41300	D	0.987036	B;B	0.22211	0.066;0.057	B;B	0.20955	0.028;0.032	T	0.61676	-0.7014	10	0.33141	T	0.24	.	15.2269	0.73359	0.0:0.9311:0.0:0.0689	.	626;626	Q7Z402;B3KSZ3	TMC7_HUMAN;.	S	626;516	ENSP00000304710:P626S;ENSP00000397081:P516S	ENSP00000304710:P626S	P	+	1	0	TMC7	18975369	0.993000	0.37304	1.000000	0.80357	0.887000	0.51463	1.718000	0.38001	2.741000	0.93983	0.650000	0.86243	CCT		0.577	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		127	191	0	0	0	1	0	127	191					T	19067868	C	T	19067868	3	4	29	1	0	0	0	0	1	0	0	0	16042	623	22	2	1930	2	TMC7	16	19067868	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	2771984	19067868	71286885	101	3622											
RBL2	5934	broad.mit.edu	37	chr16	53524146	53524146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgcaaaaagaatttgCccagaaaatcattctgcctt	5	11	3	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:53524146C>T	ENST00000262133.6	+	22	3491	c.3354C>T	c.(3352-3354)tgC>tgT	p.C1118C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C497C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1118					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGAATTTGCCCAGAAAATC	0.388																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3352-3354)tgC>tgT		retinoblastoma-like 2 (p130)							105	104	104					16																	53524146		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524146C>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3354C>T	16.37:g.53524146C>T						RBL2_ENST00000544545.1_Silent_p.C497C|RBL2_ENST00000379935.4_3'UTR	p.C1118C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			22	3491	+			1118					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.3354C>T	CCDS10748.1																																																																																				0.388	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		5	425	0	0	0	1	0	5	425					T	53524146	C	T	53524146	2	4	29	1	0	0	0	0	0	0	0	1	13160	747	26	2		2	RBL2	16	53524146	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	34456278	53524146	36830607	102	3623											
HSF4	3299	broad.mit.edu	37	chr16	67199662	67199662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcgagcagggcggcctGcttaggccggagcgcgacca	16	13	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:67199662G>A	ENST00000521374.1	+	3	273	c.273G>A	c.(271-273)ctG>ctA	p.L91L	HSF4_ENST00000584272.1_Silent_p.L91L|HSF4_ENST00000421453.1_Silent_p.L91L|HSF4_ENST00000264009.8_Silent_p.L91L			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	91					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGGGCGGCCTGCTTAGGCCGG	0.726																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(271-273)ctG>ctA		heat shock transcription factor 4							13	18	17					16																	67199662		1982	4173	6155	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199662G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.273G>A	16.37:g.67199662G>A						HSF4_ENST00000521374.1_Silent_p.L91L|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.L91L|HSF4_ENST00000584272.1_Silent_p.L91L|RP11-5A19.5_ENST00000580114.1_3'UTR	p.L91L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1238	+		Ovarian(137;0.0563)	91					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.273G>A	CCDS42175.1																																																																																				0.726	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		8	146	0	0	0	1	0	8	146					A	67199662	G	A	67199662	2	1	29	1	0	0	0	0	0	0	0	1	7428	1306	46	2		2	HSF4	16	67199662	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	13675516	67199662	23155091	103	3624											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		10	1733						10	1733	---	---	---	---	-	68718504	A	-	68718504	7	5	29	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-3A-A9IJ-01A-11D-A397-08	1518842	68718504	21636249	104	3625											
KLHL36	79786	broad.mit.edu	37	chr16	84695471	84695471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcaaccagtggacccGcgtggcgccgctgctgcacg	15	15	0	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:84695471G>A	ENST00000564996.1	+	5	1724	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	KLHL36_ENST00000258157.5_Missense_Mutation_p.R465H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	528					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGACCCGCGTGGCGCCG	0.657																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1582-1584)cGc>cAc		kelch-like family member 36							38	34	35					16																	84695471		2198	4299	6497	SO:0001583	missense	79786							g.chr16:84695471G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1583G>A	16.37:g.84695471G>A	ENSP00000456743:p.Arg528His					KLHL36_ENST00000258157.5_Missense_Mutation_p.R465H	p.R528H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1724	+			528					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1583G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510497	0.27036	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.79141	-1.24	5.49	4.53	0.55603	Kelch-type beta propeller (1);	0.191880	0.44902	D	0.000404	T	0.68769	0.3037	L	0.49699	1.58	0.41194	D	0.986323	P;P	0.46457	0.477;0.878	B;B	0.36845	0.03;0.234	T	0.67452	-0.5667	10	0.15952	T	0.53	.	15.5063	0.75743	0.0:0.1386:0.8614:0.0	.	465;528	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	H	528;465	ENSP00000258157:R465H	ENSP00000258157:R465H	R	+	2	0	KLHL36	83252972	0.295000	0.24389	0.994000	0.49952	0.993000	0.82548	2.535000	0.45685	1.311000	0.45024	-0.165000	0.13383	CGC		0.657	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			15	125	0	0	0	1	0	15	125					A	84695471	G	A	84695471	3	1	29	1	0	0	0	0	1	0	0	0	8419	1087	38	1	1597	1	KLHL36	16	84695471	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	15976967	84695471	5659282	105	3626											
YWHAE	7531	broad.mit.edu	37	chr17	1303373	1303373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgctcggccagcttcGcctggtacaccagatcctct	9	17	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1303373G>A	ENST00000264335.8	-	1	299	c.32C>T	c.(31-33)gCg>gTg	p.A11V	YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V|YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	11					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.A11V(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GGCCAGCTTCGCCTGGTACAC	0.657			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		2	Substitution - Missense(2)	p.A11V(2)	large_intestine(2)	kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(31-33)gCg>gTg		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							68	66	66					17																	1303373		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303373G>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.32C>T	17.37:g.1303373G>A	ENSP00000264335:p.Ala11Val					YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V|YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR	p.A11V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	1	299	-			11					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.32C>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601860	0.96614	.	.	ENSG00000108953	ENST00000264335	T	0.57907	0.37	4.66	4.66	0.58398	14-3-3 domain (4);	0.068065	0.56097	U	0.000021	T	0.81322	0.4798	H	0.96633	3.855	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	0.3675	15.0746	0.72066	0.0:0.0:1.0:0.0	.	11	P62258	1433E_HUMAN	V	11	ENSP00000264335:A11V	ENSP00000264335:A11V	A	-	2	0	YWHAE	1250123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.076000	0.71267	2.426000	0.82243	0.484000	0.47621	GCG		0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		160	272	0	0	0	1	0	160	272					A	1303373	G	A	1303373	3	1	29	1	0	0	0	0	1	0	0	0	17556	1087	38	1	759	1	YWHAE	17	1303373	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08		1303373	79891837	106	3627											
INPP5K	51763	broad.mit.edu	37	chr17	1401275	1401275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtggtcgctgatgccGtacgtcatgtggctgctgta	15	9	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1401275G>A	ENST00000421807.2	-	8	1306	c.918C>T	c.(916-918)taC>taT	p.Y306Y	INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000406424.4_Silent_p.Y230Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(688-690)taC>taT		inositol polyphosphate-5-phosphatase K							153	135	141					17																	1401275		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401275G>A		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.918C>T	17.37:g.1401275G>A						INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	p.Y230Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1550	-			306			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.690C>T	CCDS11004.1																																																																																				0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			6	925	0	0	0	1	0	6	925					A	1401275	G	A	1401275	2	1	29	1	0	0	0	0	0	0	0	1	7790	1140	40	1		1	INPP5K	17	1401275	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	97902	1401275	79793935	107	3628											
PRPF8	10594	broad.mit.edu	37	chr17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgattccagcccacctgacAtaagtccataacaatgctct	5	14	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1594	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4780-4782)Tgt>Cgt		pre-mRNA processing factor 8							348	357	354					17																	1563731		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563731A>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4780T>C	17.37:g.1563731A>G	ENSP00000460348:p.Cys1594Arg					PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R	p.C1594R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	5045	-			1594					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4780T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.727161	0.30593	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.81499	-1.5	5.95	5.95	0.96441	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.039639	0.85682	D	0.000000	D	0.90202	0.6937	M	0.85099	2.735	0.80722	D	1	D	0.54397	0.966	D	0.65140	0.932	D	0.91493	0.5213	10	0.72032	D	0.01	-27.9396	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1594	Q6P2Q9	PRP8_HUMAN	R	1594;121	ENSP00000304350:C1594R	ENSP00000304350:C1594R	C	-	1	0	PRPF8	1510481	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	TGT		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			827	1280	0	0	0	1	0	827	1280					G	1563731	A	G	1563731	3	3	29	1	0	0	0	0	1	0	0	0	12622	217	8	4	2283	4	PRPF8	17	1563731	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	162456	1563731	79631479	108	3629											
SGSM2	9905	broad.mit.edu	37	chr17	2266324	2266324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactaagctcaagacagccGatcactactggactgacccc	7	15	2	2	rs146045413		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:2266324G>A	ENST00000426855.2	+	6	743	c.568G>A	c.(568-570)Gat>Aat	p.D190N	SGSM2_ENST00000268989.3_Missense_Mutation_p.D190N|SGSM2_ENST00000574563.1_Missense_Mutation_p.D190N	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	190	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGACAGCCGATCACTACTG	0.627																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(568-570)Gat>Aat		small G protein signaling modulator 2		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	76	67	70		568,568	5.4	1	17	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SGSM2	NM_001098509.1,NM_014853.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	190/1007,190/1052	2266324	1,13005	2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2266324G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.568G>A	17.37:g.2266324G>A	ENSP00000415107:p.Asp190Asn					SGSM2_ENST00000574563.1_Missense_Mutation_p.D190N|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Missense_Mutation_p.D190N	p.D190N	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	6	745	+			190			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.568G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368832	0.95900	0.0	1.16E-4	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11277	2.79;2.79	5.44	5.44	0.79542	RUN (1);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.03193	-1.1062	10	0.52906	T	0.07	-16.4889	18.2505	0.90000	0.0:0.0:1.0:0.0	.	190;190;190	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	N	190	ENSP00000268989:D190N;ENSP00000415107:D190N	ENSP00000268989:D190N	D	+	1	0	SGSM2	2213074	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.869000	0.99810	2.550000	0.86006	0.462000	0.41574	GAT		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		5	303	0	0	0	1	0	5	303					A	2266324	G	A	2266324	3	1	29	1	0	0	0	0	1	0	0	0	14273	1058	37	1	590	1	SGSM2	17	2266324	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	702593	2266324	78928886	109	3630											
UBB	7314	broad.mit.edu	37	chr17	16285638	16285638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactacaacatccagaaGgagtcgaccctgcacctggt	9	13	1	2	rs534325931		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.K139K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		24534	0.001		0.0	False		,,,				2504	0.0				Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)aaG>aaA		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285638G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A						UBB_ENST00000395837.1_Silent_p.K139K|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	809	+			139			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.417G>A	CCDS11177.1																																																																																				0.567	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	504	0	0	0	1	0	7	504					A	16285638	G	A	16285638	2	1	29	1	0	0	0	0	0	0	0	1	16895	991	35	2		2	UBB	17	16285638	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	14019314	16285638	64909572	110	3631											
CYTSB	92521	broad.mit.edu	37	chr17	20108795	20108795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtattcttgaacagggccGctttgaaagagagaagctac	12	7	1	4	rs377027470	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:20108795G>T	ENST00000261503.5	+	4	1484	c.1433G>T	c.(1432-1434)cGc>cTc	p.R478L	SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395530.2_Missense_Mutation_p.R397L|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.R478L|SPECC1_ENST00000395522.2_Missense_Mutation_p.R397L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R478L|SPECC1_ENST00000395525.3_Missense_Mutation_p.R397L	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	478					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GAACAGGGCCGCTTTGAAAGA	0.428																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1189-1191)cGc>cTc		sperm antigen with calponin homology and coiled-coil domains 1							67	69	69					17																	20108795		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108795G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1433G>T	17.37:g.20108795G>T	ENSP00000261503:p.Arg478Leu					SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R397L|SPECC1_ENST00000395525.3_Missense_Mutation_p.R397L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R478L|SPECC1_ENST00000261503.5_Missense_Mutation_p.R478L|SPECC1_ENST00000395527.4_Missense_Mutation_p.R478L	p.R397L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1398	+			478					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1190G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648633	0.67358	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.32	2.98	0.34508	.	0.213897	0.51477	D	0.000098	T	0.13072	0.0317	L	0.61218	1.895	0.80722	D	1	P;P;P;P;P	0.51449	0.83;0.558;0.873;0.873;0.945	P;B;B;B;P	0.50136	0.454;0.243;0.446;0.446;0.632	T	0.01294	-1.1393	10	0.87932	D	0	-13.0972	5.2139	0.15332	0.3443:0.0:0.6557:0.0	.	478;397;397;478;478	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	L	478;478;478;397;397;397	ENSP00000261503:R478L;ENSP00000378900:R478L;ENSP00000378893:R397L;ENSP00000378896:R397L	ENSP00000261503:R478L	R	+	2	0	SPECC1	20049387	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.341000	0.52151	1.390000	0.46547	0.655000	0.94253	CGC		0.428	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		16	413	1	0	7.07596e-05	1	7.23678e-05	16	413					T	20108795	G	T	20108795	3	4	29	1	0	0	0	0	1	0	0	0	4221	1087	38	3	1487	3	CYTSB	17	20108795	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3823157	20108795	61086415	111	3632											
TMEM132E	124842	broad.mit.edu	37	chr17	32957064	32957064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccattctgactggccGgacagtggccatccctgtca	11	15	2	1	rs368041322		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:32957064G>A	ENST00000321639.5	+	6	1434	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	369						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGACTGGCCGGACAGTGGCC	0.577																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1105-1107)cGg>cAg		transmembrane protein 132E		G	GLN/ARG	0,4406		0,0,2203	109	74	86		1106	4.8	0.9	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	369/985	32957064	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32957064G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1106G>A	17.37:g.32957064G>A	ENSP00000316532:p.Arg369Gln						p.R369Q	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1434	+			369					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1106G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170261	0.78452	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.25250	1.81	4.8	4.8	0.61643	.	0.112178	0.64402	D	0.000009	T	0.47507	0.1449	M	0.69358	2.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.64237	0.923	T	0.35450	-0.9788	10	0.41790	T	0.15	-29.2691	17.4099	0.87482	0.0:0.0:1.0:0.0	.	369	Q6IEE7	T132E_HUMAN	Q	369	ENSP00000316532:R369Q	ENSP00000316532:R369Q	R	+	2	0	TMEM132E	29981177	1.000000	0.71417	0.877000	0.34402	0.577000	0.36160	6.537000	0.73847	2.677000	0.91161	0.551000	0.68910	CGG		0.577	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	176	0	0	0	1	0	4	176					A	32957064	G	A	32957064	3	1	29	1	0	0	0	0	1	0	0	0	16100	1116	39	1	1128	1	TMEM132E	17	32957064	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	12848269	32957064	48238146	112	3633											
ORMDL3	94103	broad.mit.edu	37	chr17	38079367	38079367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcccaggcactcacagCacgatgggtgtgatggtcaa	13	10	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:38079367C>A	ENST00000394169.1	-	5	1818	c.324G>T	c.(322-324)gtG>gtT	p.V108V	ORMDL3_ENST00000304046.2_Silent_p.V108V|ORMDL3_ENST00000579695.1_Silent_p.V108V|ORMDL3_ENST00000584220.1_Silent_p.V92V|ORMDL3_ENST00000582052.1_5'Flank			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	108					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GCACTCACAGCACGATGGGTG	0.617																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(322-324)gtG>gtT		ORM1-like 3 (S. cerevisiae)							109	100	103					17																	38079367		2203	4300	6503	SO:0001819	synonymous_variant	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079367C>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"ORM1 (S. cerevisiae)-like 3", "ORM1-like 3 (S. cerevisiae)"			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.324G>T	17.37:g.38079367C>A						ORMDL3_ENST00000584220.1_Silent_p.V92V|ORMDL3_ENST00000304046.2_Silent_p.V108V|ORMDL3_ENST00000579695.1_Silent_p.V108V	p.V108V			Q8N138	ORML3_HUMAN	Lung(15;0.0234)		5	1818	-	Colorectal(19;0.000442)		108					B3KS83|Q6UY83	Silent	SNP	ENST00000394169.1	37	c.324G>T	CCDS11355.1																																																																																				0.617	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		25	530	1	0	1.37878e-21	1	1.46852e-21	25	530					A	38079367	C	A	38079367	2	1	29	1	0	0	0	0	0	0	0	1	11313	697	25	3		3	ORMDL3	17	38079367	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	5122303	38079367	43115843	113	3634											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383275	39383275	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaagaacctgctactacccCacgactgtctgcctgcctgg	9	15	1	2	rs375874726		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:39383275C>G	ENST00000377721.3	+	1	376	c.369C>G	c.(367-369)ccC>ccG	p.P123P	KRTAP9-2_ENST00000455970.2_Silent_p.P107P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	123	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTACTACCCCACGACTGTCT	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		20112	0.0		0.0	False		,,,				2504	0.001					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)ccC>ccG		keratin associated protein 9-2							162	155	157					17																	39383275		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383275C>G	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.369C>G	17.37:g.39383275C>G						KRTAP9-2_ENST00000455970.2_Silent_p.P107P	p.P123P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	376	+		Breast(137;0.000496)	123			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.369C>G	CCDS32651.1																																																																																				0.627	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			8	741	0	0	0	1	0	8	741					G	39383275	C	G	39383275	2	3	29	1	0	0	0	0	0	0	0	1	8604	581	21	5		5	KRTAP9-2	17	39383275	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	1303908	39383275	41811935	114	3635											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241557	47241557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattacccagacttgaccGtaatagtggctgatgacagc	10	9	0	4			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:47241557G>A	ENST00000300404.2	+	8	1113	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V292I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V266I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	352					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGACTTGACCGTAATAGTGGC	0.488																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1054-1056)Gta>Ata		beta-1,4-N-acetyl-galactosaminyl transferase 2							158	159	158					17																	47241557		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47241557G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1054G>A	17.37:g.47241557G>A	ENSP00000300404:p.Val352Ile					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V266I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V292I	p.V352I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		8	1113	+			352					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1054G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975914	0.18736	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.74315	-0.83;-0.83;-0.83	5.58	4.58	0.56647	Glycosyl transferase, family 2 (1);	0.080378	0.49916	D	0.000126	T	0.47060	0.1425	N	0.11023	0.085	0.35557	D	0.804369	P;P	0.52170	0.945;0.951	B;B	0.41894	0.369;0.32	T	0.59553	-0.7433	10	0.05721	T	0.95	-17.6974	5.2716	0.15628	0.158:0.0:0.669:0.173	.	292;352	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	I	266;292;352	ENSP00000425510:V266I;ENSP00000377022:V292I;ENSP00000300404:V352I	ENSP00000300404:V352I	V	+	1	0	B4GALNT2	44596556	1.000000	0.71417	0.810000	0.32431	0.329000	0.28539	6.729000	0.74775	1.287000	0.44583	0.555000	0.69702	GTA		0.488	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		6	980	0	0	0	1	0	6	980					A	47241557	G	A	47241557	3	1	29	1	0	0	0	0	1	0	0	0	1268	1145	40	1	1102	1	B4GALNT2	17	47241557	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	7858282	47241557	33953653	115	3636											
SPAG9	9043	broad.mit.edu	37	chr17	49059989	49059989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatggaatgatgaggccGtccaaggtctaagaggtgat	15	6	1	4			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:49059989G>A	ENST00000262013.7	-	25	3341	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W	SPAG9_ENST00000505279.1_Missense_Mutation_p.R1035W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R888W|SPAG9_ENST00000357122.4_Missense_Mutation_p.R1031W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1045					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATGAGGCCGTCCAAGGTCT	0.398																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3133-3135)Cgg>Tgg		sperm associated antigen 9							140	133	136					17																	49059989		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49059989G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3133C>T	17.37:g.49059989G>A	ENSP00000262013:p.Arg1045Trp					SPAG9_ENST00000357122.4_Missense_Mutation_p.R1031W|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1035W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R888W	p.R1045W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		25	3341	-			1045					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3133C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484781	0.84854	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.82	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.114208	0.64402	N	0.000015	T	0.59169	0.2174	M	0.73598	2.24	0.58432	D	0.999996	D;D;D;D	0.89917	0.998;0.997;0.998;1.0	D;P;D;D	0.69307	0.963;0.881;0.944;0.963	T	0.64287	-0.6443	10	0.66056	D	0.02	-13.5751	14.6436	0.68742	0.0694:0.0:0.9306:0.0	.	1035;1045;1031;888	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	W	1045;802;792;582;888;1035;1031;643	ENSP00000262013:R1045W;ENSP00000423165:R888W;ENSP00000426900:R1035W;ENSP00000349636:R1031W	ENSP00000262013:R1045W	R	-	1	2	SPAG9	46414988	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.438000	0.59961	1.463000	0.47967	0.555000	0.69702	CGG		0.398	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		8	705	0	0	0	1	0	8	705					A	49059989	G	A	49059989	3	1	29	1	0	0	0	0	1	0	0	0	15037	1144	40	1	856	1	SPAG9	17	49059989	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	1818432	49059989	32135221	116	3637											
TRIM25	7706	broad.mit.edu	37	chr17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-													atggtgctctggtggatgccTtttatcagcttgtggttcag							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aaafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)aafs		tripartite motif containing 25							430	383	399					17																	54978862		2203	4300	6503	SO:0001589	frameshift_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978862delT	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1005delA	17.37:g.54978862delT	ENSP00000323889:p.Lys335fs					TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			4	1054	-	Breast(9;6.15e-08)		335			Interaction with influenza A virus NS1.			Frame_Shift_Del	DEL	ENST00000316881.4	37	c.1005delA	CCDS11591.1																																																																																				0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		7	1992						7	1992	---	---	---	---	-	54978862	T	-	54978862	7	5	29	1	0	1	0	1	0	0	0	0	16552	1606	56	0	911	0	TRIM25	17	54978862	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	5918873	54978862	26216348	117	3638											
GRIN2C	2905	broad.mit.edu	37	chr17	72840498	72840498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaccaggtgctcccaggCgaagaccagcagggccagcc	14	14	0	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:72840498C>T	ENST00000293190.5	-	12	2646	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T	GRIN2C_ENST00000347612.4_Missense_Mutation_p.A834T	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	834					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTCCCAGGCGAAGACCAGC	0.617																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2500-2502)Gcc>Acc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						104	94	98					17																	72840498		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840498C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2500G>A	17.37:g.72840498C>T	ENSP00000293190:p.Ala834Thr					GRIN2C_ENST00000347612.4_Missense_Mutation_p.A834T	p.A834T	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			12	2646	-	all_lung(278;0.172)|Lung NSC(278;0.207)		834					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2500G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573174	0.45902	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.79	3.8	0.43715	.	0.131349	0.50627	D	0.000113	T	0.58133	0.2101	M	0.65975	2.015	0.44780	D	0.997788	D;D	0.76494	0.999;0.99	P;P	0.56865	0.808;0.656	T	0.57579	-0.7787	10	0.35671	T	0.21	.	12.0815	0.53673	0.313:0.687:0.0:0.0	.	868;834	Q8IW23;Q14957	.;NMDE3_HUMAN	T	834;868	ENSP00000293190:A834T	ENSP00000293190:A834T	A	-	1	0	GRIN2C	70352093	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.085000	0.50151	1.098000	0.41479	0.561000	0.74099	GCC		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	471	0	0	0	1	0	6	471					T	72840498	C	T	72840498	3	4	29	1	0	0	0	0	1	0	0	0	6811	768	27	1	1209	1	GRIN2C	17	72840498	Missense_Mutation	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	17861636	72840498	8354712	118	3639											
DNAH17	8632	broad.mit.edu	37	chr17	76497387	76497387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtcccagcgatgccGgagctgggcctgccaggtga	14	14	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:76497387G>A	ENST00000585328.1	-	35	5471	c.5347C>T	c.(5347-5349)Cgg>Tgg	p.R1783W	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1774W|DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1774	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)			CAGCGATGCCGGAGCTGGGCC	0.582																																						ENST00000389840.5																			0				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						c.(5320-5322)Cgg>Tgg		dynein, axonemal, heavy chain 17							63	69	67					17																	76497387		2116	4261	6377	SO:0001583	missense	8632							g.chr17:76497387G>A	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.5347C>T	17.37:g.76497387G>A	ENSP00000465516:p.Arg1783Trp					DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1783W	p.R1774W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		35	5444	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5320C>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.230883	0.79688	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57273	0.41	4.24	4.24	0.50183	.	.	.	.	.	D	0.85639	0.5743	H	0.99859	4.855	0.46774	D	0.999191	.	.	.	.	.	.	D	0.93069	0.6481	7	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	W	1783;1774	ENSP00000374490:R1774W	ENSP00000300671:R1783W	R	-	1	2	DNAH17	74008982	0.998000	0.40836	0.990000	0.47175	0.971000	0.66376	2.578000	0.46051	2.067000	0.61834	0.448000	0.29417	CGG		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	257	0	0	0	1	0	4	257					A	76497387	G	A	76497387	3	1	29	1	0	0	0	0	1	0	0	0	4617	1115	39	1	8214	1	DNAH17	17	76497387	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3656889	76497387	4697823	119	3640											
USP14	9097	broad.mit.edu	37	chr18	211215	211215	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggtggtggagactgGcatatcgcttacgttctact	11	9	2	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr18:211215G>A	ENST00000261601.7	+	16	1507	c.1416G>A	c.(1414-1416)tgG>tgA	p.W472*	USP14_ENST00000383589.2_Nonsense_Mutation_p.W426*|USP14_ENST00000400266.3_Nonsense_Mutation_p.W461*|USP14_ENST00000582707.1_Nonsense_Mutation_p.W437*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	472	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTGGAGACTGGCATATCGCTT	0.393																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(1414-1416)tgG>tgA		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							124	109	114					18																	211215		2203	4300	6503	SO:0001587	stop_gained	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:211215G>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1416G>A	18.37:g.211215G>A	ENSP00000261601:p.Trp472*					USP14_ENST00000582707.1_Nonsense_Mutation_p.W437*|USP14_ENST00000383589.2_Nonsense_Mutation_p.W426*|USP14_ENST00000400266.3_Nonsense_Mutation_p.W461*	p.W472*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			16	1507	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	472					J3QRZ5|Q53XY5	Nonsense_Mutation	SNP	ENST00000261601.7	37	c.1416G>A	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774810	0.96922	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2632	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	472;437;461	.	ENSP00000261601:W472X	W	+	3	0	USP14	201215	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TGG		0.393	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		5	458	0	0	0	1	0	5	458					A	211215	G	A	211215	4	1	29	1	0	0	0	0	0	1	0	0	17099	1212	42	2	1478	2	USP14	18	211215	Nonsense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08		211215	77866033	120	3641											
MUC16	94025	broad.mit.edu	37	chr19	9057565	9057565	+	Frame_Shift_Del	DEL	T	T	-													tgctgtagccccaggagaacTtttttgggtggtgatggtca							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:9057565delT	ENST00000397910.4	-	3	30084	c.29881delA	c.(29881-29883)agtfs	p.S9962fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9964	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)				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						CCAGGAGAACTTTTTTGGGTG	0.488																																						ENST00000397910.4																			0				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						c.(29881-29883)gtfs		mucin 16, cell surface associated							258	250	252					19																	9057565		1961	4162	6123	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057565delT	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.29881delA	19.37:g.9057565delT	ENSP00000381008:p.Ser9962fs						p.S9962fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30084	-			9964			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.29881delA	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	1368						8	1368	---	---	---	---	-	9057565	T	-	9057565	7	5	29	1	0	1	0	1	0	0	0	0	10014	1609	56	0	13970	0	MUC16	19	9057565	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08		9057565	50071418	121	3642											
HOOK2	29911	broad.mit.edu	37	chr19	12875675	12875675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcgctcctccatggcccGcaagtccgcgtccttcttct	8	17	2	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:12875675G>A	ENST00000397668.3	-	20	1853	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R592W	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	594	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCATGGCCCGCAAGTCCGCG	0.627											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1774-1776)Cgg>Tgg		hook microtubule-tethering protein 2							78	83	81					19																	12875675		2052	4184	6236	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875675G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1780C>T	19.37:g.12875675G>A	ENSP00000380785:p.Arg594Trp		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.R594W	p.R592W	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1944	-			594			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1774C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384241	0.25031	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.20463	2.07;2.07	5.11	1.61	0.23674	.	0.307932	0.30401	N	0.009706	T	0.22244	0.0536	L	0.59436	1.845	0.32004	N	0.603013	B;B	0.16802	0.015;0.019	B;B	0.15052	0.007;0.012	T	0.21280	-1.0250	10	0.72032	D	0.01	-20.342	13.3693	0.60703	0.0:0.0:0.4636:0.5364	.	592;594	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	W	594;592	ENSP00000380785:R594W;ENSP00000264827:R592W	ENSP00000264827:R592W	R	-	1	2	HOOK2	12736675	1.000000	0.71417	0.978000	0.43139	0.171000	0.22731	0.962000	0.29280	0.146000	0.19002	-0.187000	0.12897	CGG		0.627	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		8	675	0	0	0	1	0	8	675					A	12875675	G	A	12875675	3	1	29	1	0	0	0	0	1	0	0	0	7313	1086	38	1	395	1	HOOK2	19	12875675	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	3818110	12875675	46253308	122	3643											
ZFP112	7771	broad.mit.edu	37	chr19	44832738	44832738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgattgaaacctttgccGcatatattgcatttgtatgg	8	7	0	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:44832738G>A	ENST00000337401.4	-	5	1678	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C	ZNF112_ENST00000536500.1_Silent_p.C547C|ZNF112_ENST00000354340.4_Silent_p.C524C	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AACCTTTGCCGCATATATTGC	0.423																																						ENST00000354340.4																			0											c.(1570-1572)tgC>tgT		zinc finger protein 112							126	126	126					19																	44832738		2203	4300	6503	SO:0001819	synonymous_variant	7665							g.chr19:44832738G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1590C>T	19.37:g.44832738G>A						ZNF112_ENST00000536500.1_Silent_p.C547C|ZNF112_ENST00000337401.4_Silent_p.C530C	p.C524C	NM_013380.3	NP_037512.3					4	1623	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.1572C>T	CCDS54276.1																																																																																				0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		8	900	0	0	0	1	0	8	900					A	44832738	G	A	44832738	2	1	29	1	0	0	0	0	0	0	0	1	17691	1079	38	1		1	ZFP112	19	44832738	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	31957063	44832738	14296245	123	3644											
KLK15	55554	broad.mit.edu	37	chr19	51330936	51330936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctttggcagtgggccGcagacagcacccagtgtggg	16	12	0	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:51330936G>A	ENST00000598239.1	-	2	209	c.179C>T	c.(178-180)gCg>gTg	p.A60V	KLK15_ENST00000416184.1_Missense_Mutation_p.A60V|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000301421.2_Missense_Mutation_p.A60V|KLK15_ENST00000326856.4_Missense_Mutation_p.A59V|KLK15_ENST00000596931.1_Missense_Mutation_p.A59V	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	60	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCAGTGGGCCGCAGACAGCAC	0.627																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(175-177)gCg>gTg		kallikrein-related peptidase 15							49	41	44					19																	51330936		2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330936G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.179C>T	19.37:g.51330936G>A	ENSP00000469315:p.Ala60Val					KLK15_ENST00000596931.1_Missense_Mutation_p.A59V|KLK15_ENST00000301421.2_Missense_Mutation_p.A60V|KLK15_ENST00000416184.1_Missense_Mutation_p.A60V|KLK15_ENST00000598239.1_Missense_Mutation_p.A60V	p.A59V	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	305	-		all_neural(266;0.057)	60			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.176C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666915	0.88251	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D;D	0.96967	-4.19;-3.65;-3.65	4.66	4.66	0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42821	D	0.000659	D	0.98317	0.9442	M	0.91872	3.25	0.51482	D	0.999922	D;D;D;D	0.89917	1.0;0.999;0.997;0.992	P;D;D;P	0.70227	0.891;0.918;0.968;0.826	D	0.98874	1.0767	10	0.66056	D	0.02	.	15.4166	0.74974	0.0:0.0:1.0:0.0	.	60;59;60;60	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	V	60	ENSP00000314783:A60V;ENSP00000415136:A60V;ENSP00000301421:A60V	ENSP00000301421:A60V	A	-	2	0	KLK15	56022748	1.000000	0.71417	0.836000	0.33094	0.753000	0.42808	8.743000	0.91592	2.587000	0.87381	0.561000	0.74099	GCG		0.627	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		4	162	0	0	0	1	0	4	162					A	51330936	G	A	51330936	3	1	29	1	0	0	0	0	1	0	0	0	8433	1087	38	1	607	1	KLK15	19	51330936	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	6498198	51330936	7798047	124	3645											
ZIM3	114026	broad.mit.edu	37	chr19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-													aggtttttgtccagtatgggTttttttatgcaaactaaggt							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:57646387delT	ENST00000269834.1	-	5	1703	c.1318delA	c.(1318-1320)accfs	p.T440fs	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGTATGGGTTTTTTTATGC	0.403																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1318-1320)ccfs		zinc finger, imprinted 3				0,4264		0,0,2132	139	142	141			-4.3	0	19		143	1,8253		0,1,4126	no	frameshift	ZIM3	NM_052882.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			57646387	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646387delT	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1318delA	19.37:g.57646387delT	ENSP00000269834:p.Thr440fs						p.T440fs	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1703	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	440					Q14CA6	Frame_Shift_Del	DEL	ENST00000269834.1	37	c.1318delA	CCDS33125.1																																																																																				0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			7	905						7	905	---	---	---	---	-	57646387	T	-	57646387	7	5	29	1	0	1	0	1	0	0	0	0	17738	1725	60	0	104	0	ZIM3	19	57646387	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	6315451	57646387	1482596	125	3646											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	557						7	557	---	---	---	---	-	25657232	TG	-	25657231	7	5	29	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-3A-A9IJ-01A-11D-A397-08		25657231	37368289	126	3647											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	105						8	105	---	---	---	---	G	61512381	-	G	61512380	7	5	29	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-3A-A9IJ-01A-11D-A397-08	35855149	61512380	1513140	127	3648											
ZGPAT	84619	broad.mit.edu	37	chr20	62340496	62340496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctggagggaaagtgCcgctttaaggagaactgcag	13	8	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:62340496C>T	ENST00000328969.5	+	2	691	c.564C>T	c.(562-564)tgC>tgT	p.C188C	ZGPAT_ENST00000357119.4_Silent_p.C188C|ARFRP1_ENST00000324228.2_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.A94V|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000448100.2_Silent_p.C188C|ZGPAT_ENST00000369967.3_Silent_p.C188C|ZGPAT_ENST00000355969.6_Silent_p.C188C|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	188				C -> R (in Ref. 3; BAC11317). {ECO:0000305}.	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGGAAAGTGCCGCTTTAAGG	0.602																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(562-564)tgC>tgT		zinc finger, CCCH-type with G patch domain							81	82	82					20																	62340496		2203	4300	6503	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340496C>T	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.564C>T	20.37:g.62340496C>T						ZGPAT_ENST00000355969.6_Silent_p.C188C|ZGPAT_ENST00000448100.1_Silent_p.C188C|ZGPAT_ENST00000357119.4_Silent_p.C188C|ZGPAT_ENST00000369967.3_Silent_p.C188C|ZGPAT_ENST00000490623.1_3'UTR	p.C188C	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			2	691	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		188	C -> R (in Ref. 3; BAC11317).				E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.564C>T	CCDS13534.1																																																																																				0.602	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		6	543	0	0	0	1	0	6	543					T	62340496	C	T	62340496	2	4	29	1	0	0	0	0	0	0	0	1	17727	747	26	2		2	ZGPAT	20	62340496	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08	828116	62340496	685024	128	3649											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	9	8	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85	81	83					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			6	400	0	0	0	1	0	6	400					G	30440001	A	G	30440001	3	3	29	1	0	0	0	0	1	0	0	0	2969	101	4	4	1437	4	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08		30440001	17689894	129	3650											
DSCAM	1826	broad.mit.edu	37	chr21	41719747	41719747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattttttccagggttgaGgatttcaccattgcggtacc	9	10	1	1			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:41719747G>T	ENST00000400454.1	-	6	1537	c.1060C>A	c.(1060-1062)Ctc>Atc	p.L354I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	354	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGGGTTGAGGATTTCACCA	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1060-1062)Ctc>Atc		Down syndrome cell adhesion molecule							255	231	238					21																	41719747		1945	4149	6094	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719747G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1060C>A	21.37:g.41719747G>T	ENSP00000383303:p.Leu354Ile						p.L354I	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1537	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	354			Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1060C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125139	0.06795	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69685	-0.42;-0.42	5.47	4.58	0.56647	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.063203	0.64402	D	0.000008	T	0.35508	0.0934	N	0.02802	-0.49	0.35488	D	0.798751	B	0.02656	0.0	B	0.04013	0.001	T	0.37103	-0.9720	10	0.06494	T	0.89	.	9.3049	0.37870	0.0:0.1176:0.6028:0.2796	.	354	O60469	DSCAM_HUMAN	I	354;106	ENSP00000383303:L354I;ENSP00000385342:L106I	ENSP00000383303:L354I	L	-	1	0	DSCAM	40641617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.687000	0.61708	1.292000	0.44672	0.655000	0.94253	CTC		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		53	1477	1	0	6.50621e-10	1	6.88893e-10	53	1477					T	41719747	G	T	41719747	3	4	29	1	0	0	0	0	1	0	0	0	4784	1000	35	3	5090	3	DSCAM	21	41719747	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	11279746	41719747	6410148	130	3651											
UMODL1	89766	broad.mit.edu	37	chr21	43529791	43529791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgccaccccctcccgcGcaggccgggcctgtgagggt	16	17	0	1	rs372331180		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:43529791G>A	ENST00000408910.2	+	10	1639	c.1639G>A	c.(1639-1641)Gca>Aca	p.A547T	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.A475T|UMODL1_ENST00000400424.2_Missense_Mutation_p.A475T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A547T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	547	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTCCCGCGCAGGCCGGGC	0.677																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1423-1425)Gca>Aca		uromodulin-like 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3965		0,1,1982	32	39	36		1639,1423,1423,1639	0.2	0	21		36	0,8260		0,0,4130	no	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	58,58,58,58	0,1,6112	AA,AG,GG		0.0,0.0252,0.0082	benign,benign,benign,benign	547/1319,475/1375,475/1247,547/1447	43529791	1,12225	1983	4130	6113	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529791G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1639G>A	21.37:g.43529791G>A	ENSP00000386147:p.Ala547Thr					UMODL1_ENST00000400424.1_Missense_Mutation_p.A475T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A547T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A547T	p.A475T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			10	1819	+			547			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1423G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097325	0.20552	2.52E-4	0.0	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;D;T;D	0.87029	-0.68;-2.2;-0.68;-2.2	3.23	0.158	0.14942	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.624754	0.13050	N	0.417818	D	0.88396	0.6425	L	0.38531	1.155	0.09310	N	1	D;P	0.76494	0.999;0.754	D;B	0.69307	0.963;0.363	T	0.79888	-0.1613	10	0.72032	D	0.01	-2.2113	11.007	0.47639	0.0:0.6156:0.3843:0.0	.	547;547	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	475;475;547;547	ENSP00000383279:A475T;ENSP00000383276:A475T;ENSP00000386126:A547T;ENSP00000386147:A547T	ENSP00000383276:A475T	A	+	1	0	UMODL1	42402860	0.001000	0.12720	0.008000	0.14137	0.001000	0.01503	0.280000	0.18790	0.028000	0.15324	0.655000	0.94253	GCA		0.677	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	220	0	0	0	1	0	5	220					A	43529791	G	A	43529791	3	1	29	1	0	0	0	0	1	0	0	0	17034	1087	38	1	1677	1	UMODL1	21	43529791	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	1810044	43529791	4600104	131	3652											
PATZ1	23598	broad.mit.edu	37	chr22	31740382	31740382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggacccatcatgggaccGcacatggtaggacatgcggt	13	12	1	0			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:31740382G>A	ENST00000266269.5	-	1	1836	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	PATZ1_ENST00000405309.3_Missense_Mutation_p.R403W|PATZ1_ENST00000351933.4_Missense_Mutation_p.R403W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R403W|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	403					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TCATGGGACCGCACATGGTAG	0.592																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1207-1209)Cgg>Tgg		POZ (BTB) and AT hook containing zinc finger 1							103	97	99					22																	31740382		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740382G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1207C>T	22.37:g.31740382G>A	ENSP00000266269:p.Arg403Trp					PATZ1_ENST00000351933.4_Missense_Mutation_p.R403W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R403W|PATZ1_ENST00000405309.3_Missense_Mutation_p.R403W	p.R403W	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1836	-			403					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1207C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970106	0.74246	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	4.94	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.992;0.999;0.992	T	0.51624	-0.8682	10	0.87932	D	0	-17.6064	12.412	0.55471	0.0:0.0:0.548:0.452	.	403;403;403;403	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	W	403	ENSP00000266269:R403W;ENSP00000384173:R403W;ENSP00000337520:R403W;ENSP00000215919:R403W	ENSP00000215919:R403W	R	-	1	2	PATZ1	30070382	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.161000	0.50747	0.431000	0.26258	-0.314000	0.08810	CGG		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	430	0	0	0	1	0	5	430					A	31740382	G	A	31740382	3	1	29	1	0	0	0	0	1	0	0	0	11518	1086	38	1	1159	1	PATZ1	22	31740382	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08		31740382	19564184	132	3653											
SOX10	6663	broad.mit.edu	37	chr22	38369614	38369614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaggggccgctgcgagGgccccatataggagaaggcc	17	10	0	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:38369614G>A	ENST00000396884.2	-	4	1571	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	SOX10_ENST00000360880.2_Missense_Mutation_p.P430L|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	430					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCTGCGAGGGCCCCATATA	0.637																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(1288-1290)cCc>cTc		SRY (sex determining region Y)-box 10							27	33	31					22																	38369614		2192	4294	6486	SO:0001583	missense	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369614G>A		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1289C>T	22.37:g.38369614G>A	ENSP00000380093:p.Pro430Leu					POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P430L|POLR2F_ENST00000407936.1_Intron	p.P430L	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN			4	1571	-	Melanoma(58;0.045)		430					B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	c.1289C>T	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643078	0.87859	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	T;T	0.75938	-0.98;-0.98	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.88974	0.3403	10	0.66056	D	0.02	.	18.5523	0.91069	0.0:0.0:1.0:0.0	.	430	P56693	SOX10_HUMAN	L	430	ENSP00000380093:P430L;ENSP00000354130:P430L	ENSP00000354130:P430L	P	-	2	0	SOX10	36699560	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.471000	0.97696	2.387000	0.81309	0.455000	0.32223	CCC		0.637	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		11	282	0	0	0	1	0	11	282					A	38369614	G	A	38369614	3	1	29	1	0	0	0	0	1	0	0	0	14991	1232	43	2	115	2	SOX10	22	38369614	Missense_Mutation	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	6629232	38369614	12934952	133	3654											
MTMR8	55613	broad.mit.edu	37	chrX	63569828	63569828	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgcttaacttacattgttCtctttgtagaggtaggagag	10	6	2	2			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:63569828C>T	ENST00000374852.3	-	5	658	c.591G>A	c.(589-591)gaG>gaA	p.E197E	MTMR8_ENST00000453546.1_Silent_p.E197E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	197	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTACATTGTTCTCTTTGTAGA	0.403																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(589-591)gaG>gaA		myotubularin related protein 8							109	89	96					X																	63569828		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569828C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.591G>A	X.37:g.63569828C>T						MTMR8_ENST00000453546.1_Silent_p.E197E	p.E197E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			5	658	-			197			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	c.591G>A	CCDS14379.1																																																																																				0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		5	211	0	0	0	1	0	5	211					T	63569828	C	T	63569828	2	4	29	1	0	0	0	0	0	0	0	1	9990	912	32	2		2	MTMR8	23	63569828	Silent	SNP	C	TCGA-3A-A9IJ-01A-11D-A397-08		63569828	91700732	134	3655											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	81	0	0	0	1	0	5	81					T	66765161	A	T	66765161	3	4	29	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-3A-A9IJ-01A-11D-A397-08	3195333	66765161	88505399	135	3656											
FAM155B	27112	broad.mit.edu	37	chrX	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-													cggccgagttcccctccgccAaaaaaaacttgctcaaaggc							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42	43	43					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		7	212						7	212	---	---	---	---	-	68725672	A	-	68725672	7	5	29	1	0	1	0	1	0	0	0	0	5487	131	5	0	549	0	FAM155B	23	68725672	Frame_Shift_Del	DEL	A	TCGA-3A-A9IJ-01A-11D-A397-08	1960511	68725672	86544888	136	3657											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		7	516						7	516	---	---	---	---	-	102004421	GAG	-	102004419	7	5	29	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-3A-A9IJ-01A-11D-A397-08	33278747	102004419	53266141	137	3658											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	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:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	679						7	679	---	---	---	---	-	108619355	T	-	108619355	7	5	29	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-3A-A9IJ-01A-11D-A397-08	6614936	108619355	46651205	138	3659											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	278						9	278	---	---	---	---	-	135585050	AAG	-	135585048	7	5	29	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-3A-A9IJ-01A-11D-A397-08	26965693	135585048	19685512	139	3660											
MAGEC1	9947	broad.mit.edu	37	chrX	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctccacttt					rs141900922|rs138660605|rs386828016		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1097						7	1097	---	---	---	---	-	140994116	CTC	-	140994114	7	5	29	1	0	1	0	1	0	0	0	0	9221	796	28	0	930	0	MAGEC1	23	140994114	In_Frame_Del	DEL	CTC	TCGA-3A-A9IJ-01A-11D-A397-08	5409066	140994114	14276446	140	3661			1	4		3	3	731	N	CTC_CCT	5.507916e-06
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	756						8	756	---	---	---	---	-	140994641	CTC	-	140994639	7	5	29	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-3A-A9IJ-01A-11D-A397-08	525	140994639	14275921	141	3662			1	4		3	3	731	N	CTC_CCT	5.507916e-06
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	1107						8	1107	---	---	---	---	-	140994846	CCT	-	140994844	7	5	29	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-3A-A9IJ-01A-11D-A397-08	205	140994844	14275716	142	3663			1	4		3	3	731	N	CTC_CCT	5.507916e-06
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		8	265	0	0	0	1	0	8	265					A	150156360	G	A	150156360	2	1	29	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-3A-A9IJ-01A-11D-A397-08	9161516	150156360	5114200	143	3664											
CAMTA1	23261	broad.mit.edu	37	chr1	7725038	7725038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtcagaggacggggcgCgggcccccttcacccaggca	14	16	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:7725038C>T	ENST00000303635.7	+	9	2638	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GGACGGGGCGCGGGCCCCCTT	0.687			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(2431-2433)Cgg>Tgg		calmodulin binding transcription activator 1							67	83	78					1																	7725038		2203	4297	6500	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725038C>T	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.2431C>T	1.37:g.7725038C>T	ENSP00000306522:p.Arg811Trp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W	p.R811W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2638	+	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)	811					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2431C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.566650	0.28003	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.23147	1.92;1.92	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.47716	1.5	0.32683	N	0.515231	D	0.89917	1.0	D	0.79784	0.993	T	0.52697	-0.8541	10	0.62326	D	0.03	-16.616	10.6616	0.45706	0.1539:0.714:0.1321:0.0	.	811	Q9Y6Y1	CMTA1_HUMAN	W	811	ENSP00000306522:R811W;ENSP00000402561:R811W	ENSP00000306522:R811W	R	+	1	2	CAMTA1	7647625	0.998000	0.40836	0.328000	0.25416	0.395000	0.30598	3.293000	0.51779	2.406000	0.81754	0.478000	0.44815	CGG		0.687	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	457	0	0	0	1	0	6	457					T	7725038	C	T	7725038	3	4	30	1	0	0	0	0	1	0	0	0	2620	759	27	1	2465	1	CAMTA1	1	7725038	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08		7725038	241525583	1	3665											
AIM1L	55057	broad.mit.edu	37	chr1	26650774	26650774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaatccccccagtgctgCattccagaggcggaaataaa	10	12	0	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:26650774C>A	ENST00000308182.5	-	17	1900	c.1471G>T	c.(1471-1473)Gca>Tca	p.A491S	AIM1L_ENST00000527815.1_Missense_Mutation_p.A662S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCAGTGCTGCATTCCAGAGG	0.632																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1984-1986)Gca>Tca		absent in melanoma 1-like							41	39	40					1																	26650774		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26650774C>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1471G>T	1.37:g.26650774C>A	ENSP00000310435:p.Ala491Ser					AIM1L_ENST00000308182.5_Missense_Mutation_p.A491S	p.A662S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	2033	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	491					B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1984G>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.212984	0.39102	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.43688	0.94;0.94	5.31	1.86	0.25419	Ricin B-related lectin (1);Ricin B lectin (1);	1.217100	0.05399	N	0.540450	T	0.30448	0.0765	L	0.29908	0.895	0.22280	N	0.999232	B	0.12630	0.006	B	0.08055	0.003	T	0.30851	-0.9964	10	0.66056	D	0.02	.	3.327	0.07071	0.1356:0.5251:0.1333:0.206	.	491	Q8N1P7	AIM1L_HUMAN	S	662;491	ENSP00000433931:A662S;ENSP00000310435:A491S	ENSP00000310435:A491S	A	-	1	0	AIM1L	26523361	0.353000	0.24904	0.572000	0.28498	0.999000	0.98932	0.785000	0.26830	0.605000	0.29947	0.650000	0.86243	GCA		0.632	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		4	80	1	0	2.56e-06	1	2.80889e-06	4	80					A	26650774	C	A	26650774	3	1	30	1	0	0	0	0	1	0	0	0	431	710	25	3	391	3	AIM1L	1	26650774	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	18925736	26650774	222599847	2	3666											
C1orf173	127254	broad.mit.edu	37	chr1	75037940	75037940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatatgggaaccactgTctcttttagtgaatcttctc	6	9	4	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:75037940T>A	ENST00000326665.5	-	14	3672	c.3454A>T	c.(3454-3456)Aca>Tca	p.T1152S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1152	Glu-rich.									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						GGAACCACTGTCTCTTTTAGT	0.468																																						ENST00000326665.5																			0				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						c.(3454-3456)Aca>Tca		chromosome 1 open reading frame 173							67	71	70					1																	75037940		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037940T>A																												ENST00000326665.5:c.3454A>T	1.37:g.75037940T>A	ENSP00000322609:p.Thr1152Ser					C1orf173_ENST00000433746.2_5'UTR	p.T1152S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3672	-			1152			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3454A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625736	0.28889	.	.	ENSG00000178965	ENST00000326665	T	0.11712	2.75	4.83	-0.42	0.12336	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.20955	0.032	T	0.48801	-0.9003	9	0.12766	T	0.61	-0.5703	5.6261	0.17482	0.0:0.3122:0.1374:0.5504	.	1152	Q5RHP9	CA173_HUMAN	S	1152	ENSP00000322609:T1152S	ENSP00000322609:T1152S	T	-	1	0	C1orf173	74810528	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.356000	0.20181	-0.357000	0.08175	0.459000	0.35465	ACA		0.468	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			114	197	0	0	0	1	0	114	197					A	75037940	T	A	75037940	3	1	30	1	0	0	0	0	1	0	0	0	2021	1667	58	5	1142	5	C1orf173	1	75037940	Missense_Mutation	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	48387166	75037940	174212681	3	3667											
SPAG17	200162	broad.mit.edu	37	chr1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-													ggagcattaccacctacaggTttttttgcctttttagatga							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				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						c.(280-282)aafs		sperm associated antigen 17							71	73	72					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		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.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	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)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	609						7	609	---	---	---	---	-	118693199	T	-	118693199	7	5	30	1	0	1	0	1	0	0	0	0	15031	1722	60	0	6573	0	SPAG17	1	118693199	Frame_Shift_Del	DEL	T	TCGA-3A-A9IL-01A-11D-A38G-08	43655259	118693199	130557422	4	3668											
HMCN1	83872	broad.mit.edu	37	chr1	186114603	186114603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtaacggagggcagatgCggcggtaccgcacatgtgat	16	9	0	2	rs144825762	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:186114603C>T	ENST00000271588.4	+	92	14564	c.14335C>T	c.(14335-14337)Cgg>Tgg	p.R4779W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4779W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4779	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						AGGGCAGATGCGGCGGTACCG	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		14704	0.0		0.001	False		,,,				2504	0.001					ENST00000271588.4																			0				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						c.(14335-14337)Cgg>Tgg		hemicentin 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98	89	92		14335	3.3	1	1	dbSNP_134	92	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	4779/5636	186114603	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114603C>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.14335C>T	1.37:g.186114603C>T	ENSP00000271588:p.Arg4779Trp					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4779W	p.R4779W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14564	+			4779			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14335C>T	CCDS30956.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.5	3.993825	0.74703	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53206	0.63;0.63	5.44	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.33624	1.015	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.60188	-0.7312	10	0.72032	D	0.01	.	12.9986	0.58662	0.4644:0.5356:0.0:0.0	.	4779	Q96RW7	HMCN1_HUMAN	W	4779	ENSP00000271588:R4779W;ENSP00000356462:R4779W	ENSP00000271588:R4779W	R	+	1	2	HMCN1	184381226	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.275000	0.33144	1.232000	0.43678	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	176	0	0	0	1	0	4	176					T	186114603	C	T	186114603	3	4	30	1	0	0	0	0	1	0	0	0	7250	759	27	1	14701	1	HMCN1	1	186114603	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	67421404	186114603	63136018	5	3669											
TPR	7175	broad.mit.edu	37	chr1	186313202	186313202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcttcacagcgacaTacacatttggaaacttcatc	5	12	3	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:186313202T>C	ENST00000367478.4	-	26	3734	c.3438A>G	c.(3436-3438)gtA>gtG	p.V1146V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1146					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)			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)		CACAGCGACATACACATTTGG	0.403			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(3436-3438)gtA>gtG		translocated promoter region, nuclear basket protein							109	94	99					1																	186313202		1884	4122	6006	SO:0001819	synonymous_variant	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.chr1:186313202T>C	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.3438A>G	1.37:g.186313202T>C							p.V1146V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	26	3734	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1146					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.3438A>G	CCDS41446.1																																																																																				0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		5	153	0	0	0	1	0	5	153					C	186313202	T	C	186313202	2	2	30	1	0	0	0	0	0	0	0	1	16469	1393	49	4		4	TPR	1	186313202	Silent	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	198599	186313202	62937419	6	3670											
FMOD	2331	broad.mit.edu	37	chr1	203316552	203316552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggaggccaggccatTgttggttagactgttgtggg	18	5	0	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:203316552T>C	ENST00000354955.4	-	2	1310	c.847A>G	c.(847-849)Aat>Gat	p.N283D	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	283					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCAGGCCATTGTTGGTTAGA	0.562																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(847-849)Aat>Gat		fibromodulin							147	141	143					1																	203316552		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316552T>C	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.847A>G	1.37:g.203316552T>C	ENSP00000347041:p.Asn283Asp					FMOD_ENST00000464898.1_5'UTR	p.N283D	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1310	-			283					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.847A>G	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743682	0.15642	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04317	3.65	5.18	0.217	0.15264	.	0.688390	0.15290	N	0.270224	T	0.01976	0.0062	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.15499	T	0.54	-12.1511	4.9449	0.13984	0.0:0.3254:0.3087:0.3659	.	283	Q06828	FMOD_HUMAN	D	270;283	ENSP00000347041:N283D	ENSP00000347041:N283D	N	-	1	0	FMOD	201583175	0.014000	0.17966	0.225000	0.23894	0.923000	0.55619	0.792000	0.26929	0.004000	0.14682	-0.290000	0.09829	AAT		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		29	352	0	0	0	1	0	29	352					C	203316552	T	C	203316552	3	2	30	1	0	0	0	0	1	0	0	0	5984	1812	63	4	291	4	FMOD	1	203316552	Missense_Mutation	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	17003350	203316552	45934069	7	3671											
BIRC6	57448	broad.mit.edu	37	chr2	32734896	32734896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagctgcacctactgctaatCtgctgcagacttgtgcggcc	10	14	1	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:32734896C>G	ENST00000421745.2	+	52	10206	c.10072C>G	c.(10072-10074)Ctg>Gtg	p.L3358V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3358					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)			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)					TACTGCTAATCTGCTGCAGAC	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(10072-10074)Ctg>Gtg		baculoviral IAP repeat containing 6							200	175	184					2																	32734896		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32734896C>G	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.10072C>G	2.37:g.32734896C>G	ENSP00000393596:p.Leu3358Val						p.L3358V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			52	10206	+	Acute lymphoblastic leukemia(172;0.155)		3358					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10072C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004666	0.35320	.	.	ENSG00000115760	ENST00000421745	T	0.79352	-1.26	5.67	2.9	0.33743	.	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.43152	1.355	0.48762	D	0.999706	D	0.63880	0.993	D	0.70016	0.967	T	0.80134	-0.1509	10	0.66056	D	0.02	.	10.2512	0.43370	0.0:0.7978:0.0:0.2022	.	3358	Q9NR09	BIRC6_HUMAN	V	3358	ENSP00000393596:L3358V	ENSP00000393596:L3358V	L	+	1	2	BIRC6	32588400	1.000000	0.71417	0.603000	0.28903	0.460000	0.32559	3.334000	0.52097	0.416000	0.25844	0.585000	0.79938	CTG		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	603	0	0	0	1	0	6	603					G	32734896	C	G	32734896	3	3	30	1	0	0	0	0	1	0	0	0	1440	912	32	5	10278	5	BIRC6	2	32734896	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08		32734896	210464477	8	3672											
EGR4	1961	broad.mit.edu	37	chr2	73519782	73519782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttcgggcactgcctgAatgaagaagctaccgctgta	14	9	0	3			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:73519782A>G	ENST00000545030.1	-	2	647	c.573T>C	c.(571-573)atT>atC	p.I191I	EGR4_ENST00000436467.2_Silent_p.I88I	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	191	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCACTGCCTGAATGAAGAAGC	0.657																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(571-573)atT>atC		early growth response 4							26	30	28					2																	73519782		2203	4299	6502	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519782A>G		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.573T>C	2.37:g.73519782A>G						EGR4_ENST00000436467.2_Silent_p.I88I	p.I191I	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	647	-			87					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.573T>C	CCDS1925.2																																																																																				0.657	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		17	30	0	0	0	1	0	17	30					G	73519782	A	G	73519782	2	3	30	1	0	0	0	0	0	0	0	1	4990	242	9	4		4	EGR4	2	73519782	Silent	SNP	A	TCGA-3A-A9IL-01A-11D-A38G-08	40784886	73519782	169679591	9	3673											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	11	4	0	2	rs111515821		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29	35	33					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	87	1	0	0.000602214	1	0.000642905	5	87					T	97869979	G	T	97869979	3	4	30	1	0	0	0	0	1	0	0	0	665	1174	41	3	3238	3	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	24350197	97869979	145329394	10	3674											
SCN1A	6323	broad.mit.edu	37	chr2	166894518	166894518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgcatgccgaccacgGcaaaaatgaagacgatgatg	12	9	0	4			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:166894518G>A	ENST00000303395.4	-	15	2713	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A877V|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.A905V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	905					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)			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)	GCCGACCACGGCAAAAATGAA	0.468																																						ENST00000423058.2																			0				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						c.(2713-2715)gCc>gTc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						118	113	115					2																	166894518		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894518G>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.2714C>T	2.37:g.166894518G>A	ENSP00000303540:p.Ala905Val					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A877V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A905V|AC010127.3_ENST00000599041.1_RNA	p.A905V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2731	-			905					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2714C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377262	0.95945	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99348	0.9771	H	0.95950	3.745	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.966	D;D;P	0.83275	0.994;0.996;0.838	D	0.98648	1.0678	10	0.87932	D	0	.	18.8132	0.92065	0.0:0.0:1.0:0.0	.	894;877;905	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	905;905;894;877	ENSP00000407030:A905V;ENSP00000303540:A905V;ENSP00000364554:A894V;ENSP00000386312:A877V	ENSP00000303540:A905V	A	-	2	0	SCN1A	166602764	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	9.748000	0.98867	2.525000	0.85131	0.591000	0.81541	GCC		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	398	0	0	0	1	0	5	398					A	166894518	G	A	166894518	3	1	30	1	0	0	0	0	1	0	0	0	13964	1203	42	2	3363	2	SCN1A	2	166894518	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	69024539	166894518	76304855	11	3675											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65	72	70					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		8	337						8	337	---	---	---	---	-	204150380	A	-	204150380	7	5	30	1	0	1	0	1	0	0	0	0	4163	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-3A-A9IL-01A-11D-A38G-08	37255862	204150380	39048993	12	3676											
GPD1L	23171	broad.mit.edu	37	chr3	32201095	32201095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggagatgctgaatggGcaaaagctccaaggaccgca	14	8	0	3			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:32201095G>A	ENST00000282541.5	+	7	1089	c.888G>A	c.(886-888)ggG>ggA	p.G296G		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	296					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TGCTGAATGGGCAAAAGCTCC	0.403																																						ENST00000282541.5																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(886-888)ggG>ggA		glycerol-3-phosphate dehydrogenase 1-like							62	59	60					3																	32201095		2203	4300	6503	SO:0001819	synonymous_variant	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32201095G>A	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.888G>A	3.37:g.32201095G>A							p.G296G	NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN			7	1089	+			296					A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	c.888G>A	CCDS33729.1																																																																																				0.403	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		4	297	0	0	0	1	0	4	297					A	32201095	G	A	32201095	2	1	30	1	0	0	0	0	0	0	0	1	6634	1190	42	2		2	GPD1L	3	32201095	Silent	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		32201095	165821335	13	3677											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		9	607						9	607	---	---	---	---	-	49321971	TCT	-	49321969	7	5	30	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-3A-A9IL-01A-11D-A38G-08	17120874	49321969	148700461	14	3678											
CACNA1D	776	broad.mit.edu	37	chr3	53785830	53785830	+	Frame_Shift_Del	DEL	A	A	-													ccttgcggagatacatccccAaaaacccctaccagtacaag					rs375542826		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:53785830delA	ENST00000350061.5	+	28	4082	c.3571delA	c.(3571-3573)aaafs	p.K1191fs	CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.K1211fs|CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACATCCCCAAAAACCCCTA	0.498																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3631-3633)aafs		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						235	202	213					3																	53785830		2203	4300	6503	SO:0001589	frameshift_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785830delA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3571delA	3.37:g.53785830delA	ENSP00000288133:p.Lys1191fs					CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs|CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.K1191fs	p.K1211fs	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3749	+			1191					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	ENST00000350061.5	37	c.3631delA	CCDS46848.1																																																																																				0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	901						7	901	---	---	---	---	-	53785830	A	-	53785830	7	5	30	1	0	1	0	1	0	0	0	0	2548	131	5	0	3853	0	CACNA1D	3	53785830	Frame_Shift_Del	DEL	A	TCGA-3A-A9IL-01A-11D-A38G-08	4463861	53785830	144236600	15	3679											
TBC1D1	23216	broad.mit.edu	37	chr4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-													acctcatcagtcctgacaccAaaaaaatagcattggagaaa							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(922-924)aafs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							68	72	70					4																	38020014		2203	4298	6501	SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38020014delA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.922delA	4.37:g.38020014delA	ENSP00000261439:p.Lys309fs					TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			4	1277	+			309			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.922delA	CCDS33972.1																																																																																				0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		7	411						7	411	---	---	---	---	-	38020014	A	-	38020014	7	5	30	1	0	1	0	1	0	0	0	0	15649	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-3A-A9IL-01A-11D-A38G-08		38020014	153134262	16	3680											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	152	0	0	0	1	0	4	152					T	140811108	C	T	140811108	2	4	30	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	102791094	140811108	50343168	17	3681											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102	101	101					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	683						7	683	---	---	---	---	-	122881495	A	-	122881495	7	5	30	1	0	1	0	1	0	0	0	0	3967	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-3A-A9IL-01A-11D-A38G-08		122881495	58033765	18	3682											
MEGF10	84466	broad.mit.edu	37	chr5	126792989	126792991	+	In_Frame_Del	DEL	CAG	CAG	-													agtggtggtagcagcagcaaCagcagcagcagcagtgaatg							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:126792989_126792991delCAG	ENST00000274473.6	+	26	3669_3671	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_ENST00000503335.2_In_Frame_Del_p.S1139del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3400-3405)aac>aa		multiple EGF-like-domains 10																																				SO:0001651	inframe_deletion	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126792989_126792991delCAG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3402_3404delCAG	5.37:g.126792998_126793000delCAG	ENSP00000274473:p.Ser1139del					MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del	p.NS1134del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	26	3669_3671	+		Prostate(80;0.165)	1134			Necessary for formation of large intracellular vacuoles.|Ser-rich.		Q68DE5|Q8WUL3	In_Frame_Del	DEL	ENST00000274473.6	37	c.3402_3404delCAG	CCDS4142.1																																																																																				0.512	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		7	288						7	288	---	---	---	---	-	126792991	CAG	-	126792989	7	5	30	1	0	1	0	1	0	0	0	0	9501	477	17	0	3496	0	MEGF10	5	126792989	In_Frame_Del	DEL	CAG	TCGA-3A-A9IL-01A-11D-A38G-08	3911494	126792989	54122271	19	3683											
CSNK1A1	1452	broad.mit.edu	37	chr5	148891409	148891409	+	Missense_Mutation	SNP	C	C	T													taaaatacatcaaaacatatCctaatgattccatgtcatct							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891409C>T	ENST00000377843.2	-	6	1102	c.623G>A	c.(622-624)gGa>gAa	p.G208E	CSNK1A1_ENST00000261798.5_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000606299.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAAAACATATCCTAATGATTC	0.333																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(622-624)gGa>gAa		casein kinase 1, alpha 1							101	102	101					5																	148891409		1963	4181	6144	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148891409C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.623G>A	5.37:g.148891409C>T	ENSP00000367074:p.Gly208Glu					CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E	p.G208E	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1055	-			208			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.623G>A	CCDS47303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.211546|5.211546	0.95069|0.95069	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.|D;D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93;-1.93	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.97037|0.97037	0.9032|0.9032	H|H	0.99979|0.99979	5.185|5.185	0.80722|0.80722	D|D	1|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	.|0.998;0.998;1.0;1.0;1.0;1.0	D|D	0.98939|0.98939	1.0790|1.0790	5|10	.|0.87932	.|D	.|0	.|.	19.8669|19.8669	0.96806|0.96806	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147;147;208;208;236;119	.|B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.|.;.;.;KC1A_HUMAN;.;.	N|E	39|208;208;119;147;208;236	.|ENSP00000261798:G208E;ENSP00000367074:G208E;ENSP00000426747:G119E;ENSP00000427031:G147E;ENSP00000421689:G236E	.|ENSP00000261798:G208E	D|G	-|-	1|2	0|0	CSNK1A1|CSNK1A1	148871602|148871602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.704000|2.704000	0.92352|0.92352	0.573000|0.573000	0.79308|0.79308	GAT|GGA		0.333	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		7	546	0	0	0	1	0	7	546					T	148891409	C	T	148891409	3	4	30	1	0	0	0	0	1	0	0	0	3961	855	30	2	410	2	CSNK1A1	5	148891409	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	22098420	148891409	32023851	20	3684	24	2									
CSNK1A1	1452	broad.mit.edu	37	chr5	148891414	148891414	+	Silent	SNP	T	T	C													tacatcaaaacatatcctaaTgattccatgtcatctcggcg							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891414T>C	ENST00000377843.2	-	6	1097	c.618A>G	c.(616-618)tcA>tcG	p.S206S	CSNK1A1_ENST00000261798.5_Silent_p.S206S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000606299.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATCCTAATGATTCCATGT	0.338																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(616-618)tcA>tcG		casein kinase 1, alpha 1							101	102	102					5																	148891414		1958	4180	6138	SO:0001819	synonymous_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148891414T>C	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.618A>G	5.37:g.148891414T>C						CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000515435.1_Silent_p.S145S	p.S206S	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1050	-			206			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	ENST00000377843.2	37	c.618A>G	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336486	0.24253	.	.	ENSG00000113712	ENST00000503350	.	.	.	5.72	1.51	0.23008	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54490	-0.8286	4	.	.	.	.	10.8543	0.46789	0.5605:0.0:0.0:0.4395	.	.	.	.	R	37	.	.	H	-	2	0	CSNK1A1	148871607	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	0.367000	0.24454	0.467000	0.42956	CAT		0.338	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		7	544	0	0	0	1	0	7	544					C	148891414	T	C	148891414	2	2	30	1	0	0	0	0	0	0	0	1	3961	1451	51	4		4	CSNK1A1	5	148891414	Silent	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	5	148891414	32023846	21	3685	24	2									
F12	2161	broad.mit.edu	37	chr5	176829597	176829597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccctgcgcagagcatgCcggggaggatggaggatccg	18	10	0	1	rs17876034		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:176829597C>T	ENST00000253496.3	-	13	1682	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	545	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs17876034). {ECO:0000269|Ref.2}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCAGAGCATGCCGGGGAGGAT	0.672									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1633-1635)gGc>gAc		coagulation factor XII (Hageman factor)		C	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	36	36	36		1634	3.6	0.7	5	dbSNP_124	36	0,8600		0,0,4300	no	missense	F12	NM_000505.3	94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	545/616	176829597	1,13005	2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176829597C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1634G>A	5.37:g.176829597C>T	ENSP00000253496:p.Gly545Asp						p.G545D	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1682	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	545		G -> D (in dbSNP:rs17876034).	Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1634G>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333662	0.41297	2.27E-4	0.0	ENSG00000131187	ENST00000253496	T	0.59083	0.29	5.65	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159525	0.29745	N	0.011311	T	0.40522	0.1120	N	0.25245	0.725	0.25749	N	0.985076	P	0.43633	0.813	B	0.40134	0.32	T	0.20371	-1.0277	10	0.29301	T	0.29	.	10.1343	0.42697	0.0:0.7895:0.0:0.2105	rs17876034	545	P00748	FA12_HUMAN	D	545	ENSP00000253496:G545D	ENSP00000253496:G545D	G	-	2	0	F12	176762203	0.000000	0.05858	0.670000	0.29842	0.930000	0.56654	0.218000	0.17622	1.399000	0.46721	0.561000	0.74099	GGC		0.672	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			4	167	0	0	0	1	0	4	167					T	176829597	C	T	176829597	3	4	30	1	0	0	0	0	1	0	0	0	5357	739	26	2	221	2	F12	5	176829597	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	27938183	176829597	4085663	22	3686											
MAML1	9794	broad.mit.edu	37	chr5	179192636	179192636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaccccagtgagtcatttCctctgagcctgaataaagaa	8	10	2	4	rs578168072		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:179192636C>T	ENST00000292599.3	+	2	888	c.625C>T	c.(625-627)Cct>Tct	p.P209S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGTCATTTCCTCTGAGCCT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18327	0.0		0.0	False		,,,				2504	0.001					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(625-627)Cct>Tct		mastermind-like 1 (Drosophila)							53	51	52					5																	179192636		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192636C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.625C>T	5.37:g.179192636C>T	ENSP00000292599:p.Pro209Ser					MAML1_ENST00000503050.1_3'UTR	p.P209S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	888	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	209						Missense_Mutation	SNP	ENST00000292599.3	37	c.625C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	2.237	-0.374809	0.05034	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.41065	1.01	4.9	-2.85	0.05734	.	0.748097	0.12499	N	0.463489	T	0.21267	0.0512	N	0.17082	0.46	0.09310	N	1	B;B	0.24483	0.104;0.021	B;B	0.27887	0.084;0.012	T	0.34650	-0.9820	10	0.07030	T	0.85	-0.2222	10.5807	0.45255	0.1074:0.1897:0.6345:0.0684	.	246;209	Q59GH4;Q92585	.;MAML1_HUMAN	S	209;246	ENSP00000292599:P209S	ENSP00000292599:P209S	P	+	1	0	MAML1	179125242	0.894000	0.30519	0.183000	0.23137	0.961000	0.63080	0.063000	0.14410	-0.556000	0.06134	-0.519000	0.04390	CCT		0.527	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		7	280	0	0	0	1	0	7	280					T	179192636	C	T	179192636	3	4	30	1	0	0	0	0	1	0	0	0	9246	855	30	2	631	2	MAML1	5	179192636	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	2363039	179192636	1722624	23	3687											
DNAH8	1769	broad.mit.edu	37	chr6	38820472	38820472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctctgtcttacagccGcatctccctgcagtatctga	6	14	4	1	rs61757626		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000441566.1_Silent_p.P1606P|DNAH8_ENST00000449981.2_Silent_p.P1823P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1606					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4816-4818)ccG>ccA		dynein, axonemal, heavy chain 8							90	87	88					6																	38820472		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38820472G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4818G>A	6.37:g.38820472G>A						DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P	p.P1606P							38	5072	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4818G>A																																																																																					0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	203	0	0	0	1	0	4	203					A	38820472	G	A	38820472	2	1	30	1	0	0	0	0	0	0	0	1	4623	1074	38	1		1	DNAH8	6	38820472	Silent	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		38820472	132294595	24	3688											
CRISP2	7180	broad.mit.edu	37	chr6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttacatactggttttgCggtcctctggatcactatgt	8	8	2	0	rs532707585		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88	SCP.			R -> C (in Ref. 5; BAD97057). {ECO:0000305}.	single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		15026	0.0		0.0	False		,,,				2504	0.001					ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(262-264)cGc>cAc		cysteine-rich secretory protein 2							128	108	115					6																	49667525		2202	4300	6502	SO:0001583	missense	7180					extracellular space		g.chr6:49667525C>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.263G>A	6.37:g.49667525C>T	ENSP00000339155:p.Arg88His						p.R88H	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	499	-	Lung NSC(77;0.0161)		88					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.263G>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831906	0.50845	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08370	3.1	5.02	4.15	0.48705	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.90650	3.135	0.24684	N	0.993341	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.11792	-1.0573	10	0.37606	T	0.19	.	9.7734	0.40603	0.0:0.906:0.0:0.094	.	88;88	Q7Z7B2;P16562	.;CRIS2_HUMAN	H	88	ENSP00000339155:R88H	ENSP00000211238:R88H	R	-	2	0	CRISP2	49775484	0.493000	0.26035	0.479000	0.27329	0.429000	0.31625	2.574000	0.46016	1.478000	0.48253	0.650000	0.86243	CGC		0.338	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		5	228	0	0	0	1	0	5	228					T	49667525	C	T	49667525	3	4	30	1	0	0	0	0	1	0	0	0	3889	768	27	1	488	1	CRISP2	6	49667525	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	10847053	49667525	121447542	25	3689											
TMEM181	57583	broad.mit.edu	37	chr6	159050843	159050843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattctccatcgaagaatgCcctctatggtaagccaccct	6	13	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:159050843C>T	ENST00000367090.3	+	15	1696	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	562					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCGAAGAATGCCCTCTATGGT	0.527																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1684-1686)gCc>gTc		transmembrane protein 181							134	132	133					6																	159050843		1932	4125	6057	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159050843C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1685C>T	6.37:g.159050843C>T	ENSP00000356057:p.Ala562Val						p.A562V	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	15	1696	+		Breast(66;0.000776)|Ovarian(120;0.0303)	562					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1685C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630914	0.96682	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	6.17	6.17	0.99709	.	0.045522	0.85682	D	0.000000	T	0.45975	0.1369	L	0.34521	1.04	0.58432	D	0.999998	P	0.51351	0.944	P	0.46110	0.504	T	0.30937	-0.9961	9	0.35671	T	0.21	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	562	Q9P2C4	TM181_HUMAN	V	469;562	.	ENSP00000323755:A469V	A	+	2	0	TMEM181	158970831	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	7.681000	0.84073	2.941000	0.99782	0.655000	0.94253	GCC		0.527	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		4	224	0	0	0	1	0	4	224					T	159050843	C	T	159050843	3	4	30	1	0	0	0	0	1	0	0	0	16152	739	26	2	1743	2	TMEM181	6	159050843	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	109383318	159050843	12064224	26	3690											
LGI3	203190	broad.mit.edu	37	chr8	22012962	22012962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatctctgagaaggcgGcattcaccagggtcctgcgg	14	12	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr8:22012962G>A	ENST00000306317.2	-	2	510	c.221C>T	c.(220-222)gCc>gTc	p.A74V	LGI3_ENST00000424267.2_Missense_Mutation_p.A74V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	74					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGAGAAGGCGGCATTCACCAG	0.597																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(220-222)gCc>gTc		leucine-rich repeat LGI family, member 3							132	129	130					8																	22012962		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22012962G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.221C>T	8.37:g.22012962G>A	ENSP00000302297:p.Ala74Val					LGI3_ENST00000424267.2_Missense_Mutation_p.A74V	p.A74V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	2	510	-			74					A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.221C>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786021	0.49997	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;D;D	0.90004	0.41;-2.59;-2.6	5.14	5.14	0.70334	.	0.059978	0.64402	D	0.000004	T	0.79161	0.4399	N	0.11560	0.145	0.41325	D	0.987208	B;B	0.24920	0.114;0.003	B;B	0.21917	0.037;0.005	T	0.76192	-0.3049	10	0.39692	T	0.17	-12.8419	14.4684	0.67499	0.0:0.0:1.0:0.0	.	74;74	A5PLP2;Q8N145	.;LGI3_HUMAN	V	74;74;35	ENSP00000302297:A74V;ENSP00000399121:A74V;ENSP00000427817:A35V	ENSP00000302297:A74V	A	-	2	0	LGI3	22068907	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.476000	0.66793	2.541000	0.85698	0.650000	0.86243	GCC		0.597	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			5	255	0	0	0	1	0	5	255					A	22012962	G	A	22012962	3	1	30	1	0	0	0	0	1	0	0	0	8785	1203	42	2	1453	2	LGI3	8	22012962	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		22012962	124351060	27	3691											
SMARCA2	6595	broad.mit.edu	37	chr9	2039815	2039815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagccgcagcagca	12	15	0	0	rs574062756	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000382194.1_Silent_p.Q235Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0.0	False		,,,				2504	0.0102					ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(703-705)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039815G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.705G>A	9.37:g.2039815G>A						SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000382194.1_Silent_p.Q235Q	p.Q235Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	914	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	235			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.705G>A	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	116	0	0	0	1	0	5	116					A	2039815	G	A	2039815	2	1	30	1	0	0	0	0	0	0	0	1	14819	962	34	2		2	SMARCA2	9	2039815	Silent	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		2039815	139173616	28	3692											
UBAP2	55833	broad.mit.edu	37	chr9	33989115	33989115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttacaccctacagtctCccatgaagtctatcagagag	6	12	4	2			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:33989115C>T	ENST00000379238.1	-	5	415	c.298G>A	c.(298-300)Gag>Aag	p.E100K	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K|UBAP2_ENST00000379239.4_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTACAGTCTCCCATGAAGTC	0.343																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(298-300)Gag>Aag		ubiquitin associated protein 2							60	57	58					9																	33989115		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33989115C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.298G>A	9.37:g.33989115C>T	ENSP00000368540:p.Glu100Lys					UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K	p.E100K			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	415	-			100						Missense_Mutation	SNP	ENST00000379238.1	37	c.298G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853073	0.91355	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.18	5.18	0.71444	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.76494	0.964;0.999;0.998;0.998;0.998	D;D;D;D;D	0.81914	0.946;0.995;0.994;0.989;0.989	T	0.65660	-0.6114	10	0.87932	D	0	-6.7904	18.7036	0.91630	0.0:1.0:0.0:0.0	.	100;25;62;25;100	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	K	100;100;100;62;40;100;100;100	ENSP00000368540:E100K;ENSP00000416932:E100K;ENSP00000354039:E100K;ENSP00000404436:E100K;ENSP00000414800:E100K	ENSP00000259602:E100K	E	-	1	0	UBAP2	33979115	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.100000	0.76989	2.398000	0.81561	0.650000	0.86243	GAG		0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		214	173	0	0	0	1	0	214	173					T	33989115	C	T	33989115	3	4	30	1	0	0	0	0	1	0	0	0	16891	864	30	2	3161	2	UBAP2	9	33989115	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	31949300	33989115	107224316	29	3693											
FAM75A6	389730	broad.mit.edu	37	chr9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtggcgggaaagaGgatcttgctggactgatgag	19	5	1	3			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	301					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGGAAAGAGGATCTTGCTG	0.547																																						ENST00000332857.6																			0											c.(901-903)cCt>cAt		SPATA31 subfamily A, member 6							3	3	3					9																	43627785		555	1419	1974	SO:0001583	missense	389730							g.chr9:43627785G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His					SPATA31A6_ENST00000496386.1_5'UTR	p.P301H	NM_001145196.1	NP_001138668.1					4	930	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.902C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		11	1928	1	0	0.014758	1	0.0151413	11	1928					T	43627785	G	T	43627785	3	4	30	1	0	0	0	0	1	0	0	0	5647	1000	35	3	3133	3	FAM75A6	9	43627785	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	9638670	43627785	97585646	30	3694											
PIK3AP1	118788	broad.mit.edu	37	chr10	98388169	98388169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaccttctaaaaacttgCggatcatagagtccttagtg	7	9	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:98388169C>T	ENST00000339364.5	-	9	1576	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	486					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TAAAAACTTGCGGATCATAGA	0.448																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1456-1458)cGc>cAc		phosphoinositide-3-kinase adaptor protein 1							162	165	164					10																	98388169		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98388169C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1457G>A	10.37:g.98388169C>T	ENSP00000339826:p.Arg486His					PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H	p.R486H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	9	1576	-		Colorectal(252;0.0442)	486					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1457G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905704	0.92107	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.40756	2.7;2.02;1.02	5.55	5.55	0.83447	.	0.126173	0.56097	D	0.000029	T	0.62356	0.2421	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56878	-0.7906	10	0.37606	T	0.19	-18.5849	18.856	0.92252	0.0:1.0:0.0:0.0	.	486;85	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	H	486;308;85	ENSP00000339826:R486H;ENSP00000360151:R308H;ENSP00000360150:R85H	ENSP00000339826:R486H	R	-	2	0	PIK3AP1	98378159	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.935000	0.63498	2.753000	0.94483	0.655000	0.94253	CGC		0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		6	518	0	0	0	1	0	6	518					T	98388169	C	T	98388169	3	4	30	1	0	0	0	0	1	0	0	0	11950	768	27	1	996	1	PIK3AP1	10	98388169	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08		98388169	37146578	31	3695											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	10	13	1	1	rs76949963	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94	97	96					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	386	0	0	0	1	0	5	386					C	126682486	T	C	126682486	2	2	30	1	0	0	0	0	0	0	0	1	4009	1606	56	4		4	CTBP2	10	126682486	Silent	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	28294317	126682486	8852261	32	3696			1	5		2	2	31	N	T_G	5.232971e-05
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	376	0	0	0	1	0	5	376					A	126682516	G	A	126682516	2	1	30	1	0	0	0	0	0	0	0	1	4009	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	30	126682516	8852231	33	3697			1	5		2	2	31	N	T_G	5.232971e-05
ATG2A	23130	broad.mit.edu	37	chr11	64677636	64677636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggccagttctgagtggCaatggcaggcaactgagcgc	15	11	1	2			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr11:64677636C>A	ENST00000377264.3	-	13	1851	c.1739G>T	c.(1738-1740)tGc>tTc	p.C580F	ATG2A_ENST00000421419.2_Missense_Mutation_p.C580F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	580					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)				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						TTCTGAGTGGCAATGGCAGGC	0.687																																						ENST00000421419.2																			0				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						c.(1738-1740)tGc>tTc		autophagy related 2A							28	34	32					11																	64677636		2186	4266	6452	SO:0001583	missense	23130						protein binding	g.chr11:64677636C>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.1739G>T	11.37:g.64677636C>A	ENSP00000366475:p.Cys580Phe					ATG2A_ENST00000377264.3_Missense_Mutation_p.C580F	p.C580F			Q2TAZ0	ATG2A_HUMAN			13	1853	-			580					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1739G>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.875|8.875	0.950190|0.950190	0.18431|0.18431	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06371|.	3.31;3.31|.	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	0.132501|.	0.52532|.	D|.	0.000075|.	T|T	0.56949|0.56949	0.2020|0.2020	L|L	0.47716|0.47716	1.5|1.5	0.38137|0.38137	D|D	0.938347|0.938347	B|.	0.24823|.	0.112|.	B|.	0.15870|.	0.014|.	T|T	0.57774|0.57774	-0.7753|-0.7753	10|5	0.12766|.	T|.	0.61|.	.|.	9.8189|9.8189	0.40869|0.40869	0.0:0.9041:0.0:0.0959|0.0:0.9041:0.0:0.0959	.|.	580|.	Q2TAZ0|.	ATG2A_HUMAN|.	F|F	580|381	ENSP00000410522:C580F;ENSP00000366475:C580F|.	ENSP00000366475:C580F|.	C|L	-|-	2|3	0|2	ATG2A|ATG2A	64434212|64434212	0.958000|0.958000	0.32768|0.32768	0.997000|0.997000	0.53966|0.53966	0.800000|0.800000	0.45204|0.45204	1.157000|1.157000	0.31724|0.31724	1.266000|1.266000	0.44231|0.44231	0.462000|0.462000	0.41574|0.41574	TGC|TTG		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	155	1	0	4.096e-09	1	4.55752e-09	4	155					A	64677636	C	A	64677636	3	1	30	1	0	0	0	0	1	0	0	0	1094	710	25	3	4193	3	ATG2A	11	64677636	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08		64677636	70328880	34	3698											
SRGAP1	57522	broad.mit.edu	37	chr12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagggcgcttcacatccGcaaactcctcctgactttgc	9	14	1	2	rs201404379		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 1		G	HIS/ARG	0,4406		0,0,2203	150	131	137		1850	4.3	1	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	p.R617H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2374	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	641	0	0	0	1	0	6	641					A	64502748	G	A	64502748	3	1	30	1	0	0	0	0	1	0	0	0	15197	1087	38	1	1912	1	SRGAP1	12	64502748	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		64502748	69349147	35	3699											
ATP2B1	490	broad.mit.edu	37	chr12	89992937	89992937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaaccacaagatttggCcacgccgcaactccctttca	5	16	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:89992937C>T	ENST00000428670.3	-	20	3764	c.3308G>A	c.(3307-3309)gGc>gAc	p.G1103D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1103	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAGATTTGGCCACGCCGCAA	0.483																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3307-3309)gGc>gAc		ATPase, Ca++ transporting, plasma membrane 1							138	122	128					12																	89992937		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89992937C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3308G>A	12.37:g.89992937C>T	ENSP00000392043:p.Gly1103Asp					ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D	p.G1103D			P20020	AT2B1_HUMAN			20	3764	-			1103			Calmodulin-binding subdomain A.		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3308G>A	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061150|4.061150	0.76074|0.76074	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.87334	.|-2.24;-2.24;-2.24;-2.24;-2.24	5.99|5.99	5.08|5.08	0.68730|0.68730	.|.	.|0.048031	.|0.85682	.|D	.|0.000000	D|D	0.93341|0.93341	0.7877|0.7877	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.69078	.|0.934;0.997;0.997	.|P;D;D	.|0.75020	.|0.559;0.985;0.962	D|D	0.94171|0.94171	0.7423|0.7423	5|10	.|0.87932	.|D	.|0	-20.0772|-20.0772	17.1454|17.1454	0.86765|0.86765	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	.|1103;1103;1067	.|P20020-3;P20020-2;P20020-6	.|.;.;.	T|D	84|1103;1067;1103;1103;846	.|ENSP00000261173:G1103D;ENSP00000343599:G1067D;ENSP00000352054:G1103D;ENSP00000392043:G1103D;ENSP00000376869:G846D	.|ENSP00000261173:G1103D	A|G	-|-	1|2	0|0	ATP2B1|ATP2B1	88517068|88517068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		6	559	0	0	0	1	0	6	559					T	89992937	C	T	89992937	3	4	30	1	0	0	0	0	1	0	0	0	1140	739	26	2	520	2	ATP2B1	12	89992937	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	25490189	89992937	43858958	36	3700											
NOS1	4842	broad.mit.edu	37	chr12	117655862	117655862	+	Frame_Shift_Del	DEL	T	T	-													ccagcttactcatcggtgtcTtttttgctctcttcaatgaa							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:117655862delT	ENST00000338101.4	-	28	4384	c.4380delA	c.(4378-4380)aaafs	p.K1460fs	NOS1_ENST00000317775.6_Frame_Shift_Del_p.K1426fs|NOS1_ENST00000344089.3_3'UTR			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)			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)		CATCGGTGTCTTTTTTGCTCT	0.532																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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						c.(4276-4278)aafs		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						230	232	231					12																	117655862		2002	4171	6173	SO:0001589	frameshift_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.chr12:117655862delT		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.4380delA	12.37:g.117655862delT	ENSP00000337459:p.Lys1460fs					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Frame_Shift_Del_p.K1460fs	p.K1426fs	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	4963	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1426						Frame_Shift_Del	DEL	ENST00000338101.4	37	c.4278delA	CCDS55890.1																																																																																				0.532	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	1289						8	1289	---	---	---	---	-	117655862	T	-	117655862	7	5	30	1	0	1	0	1	0	0	0	0	10583	1606	56	0	34	0	NOS1	12	117655862	Frame_Shift_Del	DEL	T	TCGA-3A-A9IL-01A-11D-A38G-08	27662925	117655862	16196033	37	3701											
ANAPC5	51433	broad.mit.edu	37	chr12	121746425	121746425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaacgacgtccctgatgCgctctttgcagtcaaccttt	8	12	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:121746425C>T	ENST00000261819.3	-	17	2247	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	709					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCCCTGATGCGCTCTTTGCA	0.527																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2125-2127)cGc>cAc		anaphase promoting complex subunit 5							159	138	145					12																	121746425		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746425C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2126G>A	12.37:g.121746425C>T	ENSP00000261819:p.Arg709His					ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H	p.R709H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2247	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		709					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2126G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072176	0.76415	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.61	3.41	0.39046	Tetratricopeptide-like helical (1);	0.174381	0.52532	D	0.000074	T	0.68210	0.2976	L	0.43923	1.385	0.80722	D	1	P;P;P	0.51147	0.942;0.784;0.903	P;B;B	0.48089	0.566;0.34;0.433	T	0.66598	-0.5883	10	0.72032	D	0.01	.	5.2077	0.15299	0.0:0.3649:0.0:0.6351	.	375;597;709	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	H	597;696;709;375;311;597	ENSP00000415061:R597H;ENSP00000439875:R696H;ENSP00000261819:R709H;ENSP00000438754:R375H;ENSP00000343787:R597H	ENSP00000261819:R709H	R	-	2	0	ANAPC5	120230808	0.996000	0.38824	0.780000	0.31762	0.867000	0.49689	3.016000	0.49607	0.521000	0.28445	0.563000	0.77884	CGC		0.527	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	791	0	0	0	1	0	7	791					T	121746425	C	T	121746425	3	4	30	1	0	0	0	0	1	0	0	0	605	768	27	1	145	1	ANAPC5	12	121746425	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	4090563	121746425	12105470	38	3702											
C14orf21	161424	broad.mit.edu	37	chr14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttacaggttttacaccGcaaacttccccagttttgcg	8	12	0	0			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153	156	155					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			7	748	0	0	0	1	0	7	748					A	24771231	G	A	24771231	3	1	30	1	0	0	0	0	1	0	0	0	1774	1087	38	1	883	1	C14orf21	14	24771231	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		24771231	82578309	39	3703											
PSMA6	5687	broad.mit.edu	37	chr14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A													tgagtcaaccagcttccttgINSaaaaaaaagtgaagaagaaa							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)gaafs	p.E180fs	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.E161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.E101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAGCTTCCTTGAAAAAAAAGTG	0.406																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(538-540)aaafs		proteasome (prosome, macropain) subunit, alpha type, 6																																				SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782215_35782216insA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.546dupA	14.37:g.35782223_35782223dupA	ENSP00000261479:p.Glu180fs					PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs	p.K180fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	658_659	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Ins	INS	ENST00000261479.4	37	c.538_539insA	CCDS9655.1																																																																																				0.406	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			8	812						8	812	---	---	---	---	A	35782216	-	A	35782215	7	5	30	1	0	1	1	0	0	0	0	0	12718	1291	45	0	556	0	PSMA6	14	35782215	Frame_Shift_Ins	INS	-	TCGA-3A-A9IL-01A-11D-A38G-08	11010984	35782215	71567325	40	3704											
IREB2	3658	broad.mit.edu	37	chr15	78755395	78755395	+	Frame_Shift_Del	DEL	T	T	-													aaagcaatgttgaagtgcccTttttccctgcccgtgttctt							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr15:78755395delT	ENST00000258886.8	+	3	387	c.238delT	c.(238-240)tttfs	p.F81fs	IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	81					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(238-240)ttfs		iron-responsive element binding protein 2							227	211	216					15																	78755395		2196	4293	6489	SO:0001589	frameshift_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755395delT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.238delT	15.37:g.78755395delT	ENSP00000258886:p.Phe81fs					IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	p.F81fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	387	+			81					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Frame_Shift_Del	DEL	ENST00000258886.8	37	c.238delT	CCDS10302.1																																																																																				0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		9	1439						9	1439	---	---	---	---	-	78755395	T	-	78755395	7	5	30	1	0	1	0	1	0	0	0	0	7856	1609	56	0	248	0	IREB2	15	78755395	Frame_Shift_Del	DEL	T	TCGA-3A-A9IL-01A-11D-A38G-08		78755395	23775997	41	3705											
TBX2	6909	broad.mit.edu	37	chr17	59479173	59479173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcgcgctggatggtggCgggcaaggccgaccctgaga	16	12	0	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:59479173C>T	ENST00000240328.3	+	2	805	c.524C>T	c.(523-525)gCg>gTg	p.A175V	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	175				AGKA -> TDKT (in Ref. 4; AAB36216). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TGGATGGTGGCGGGCAAGGCC	0.592																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(523-525)gCg>gTg		T-box 2							79	66	70					17																	59479173		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59479173C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.524C>T	17.37:g.59479173C>T	ENSP00000240328:p.Ala175Val					RP11-332H18.4_ENST00000592009.1_RNA	p.A175V	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			2	805	+			175	AGKA -> TDKT (in Ref. 4; AAB36216).				Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.524C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	36	5.632560	0.96682	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.89681	-2.55	4.81	4.81	0.61882	p53-like transcription factor, DNA-binding (1);	0.107611	0.64402	D	0.000006	D	0.94706	0.8292	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	0.994;1.0	P;P	0.61874	0.639;0.895	D	0.95646	0.8702	10	0.87932	D	0	.	17.0401	0.86487	0.0:1.0:0.0:0.0	.	175;112	Q13207;Q59FT1	TBX2_HUMAN;.	V	175;150	ENSP00000240328:A175V	ENSP00000240328:A175V	A	+	2	0	TBX2	56833955	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.616000	0.83018	2.494000	0.84150	0.561000	0.74099	GCG		0.592	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		5	305	0	0	0	1	0	5	305					T	59479173	C	T	59479173	3	4	30	1	0	0	0	0	1	0	0	0	15707	768	27	1	530	1	TBX2	17	59479173	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08		59479173	21716037	42	3706											
CBX8	57332	broad.mit.edu	37	chr17	77768564	77768564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggctccaggactcttccTccgggtcccccaggattctg	12	15	2	0			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:77768564T>C	ENST00000269385.4	-	5	1157	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	347					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTCTTCCTCCGGGTCCCC	0.627																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(1039-1041)gAg>gGg		chromobox homolog 8							44	53	50					17																	77768564		2202	4299	6501	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768564T>C	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1040A>G	17.37:g.77768564T>C	ENSP00000269385:p.Glu347Gly						p.E347G	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1157	-			347					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.1040A>G	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	t	13.89	2.372411	0.42003	.	.	ENSG00000141570	ENST00000269385	T	0.52983	0.64	4.94	4.94	0.65067	.	0.340813	0.21090	U	0.080336	T	0.44746	0.1308	N	0.04508	-0.205	0.44295	D	0.997161	D	0.71674	0.998	D	0.72982	0.979	T	0.46925	-0.9156	10	0.20519	T	0.43	-25.0512	15.0139	0.71570	0.0:0.0:0.0:1.0	.	347	Q9HC52	CBX8_HUMAN	G	347	ENSP00000269385:E347G	ENSP00000269385:E347G	E	-	2	0	CBX8	75383159	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.252000	0.51461	2.011000	0.59026	0.434000	0.28630	GAG		0.627	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		8	482	0	0	0	1	0	8	482					C	77768564	T	C	77768564	3	2	30	1	0	0	0	0	1	0	0	0	2731	1538	54	4	108	4	CBX8	17	77768564	Missense_Mutation	SNP	T	TCGA-3A-A9IL-01A-11D-A38G-08	18289391	77768564	3426646	43	3707											
LAMA1	284217	broad.mit.edu	37	chr18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-													actcggagcagccccgggggTttttttccttcaagttatag							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)aacfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4. {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)			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)				GCCCCGGGGGTTTTTTTCCTT	0.532																																						ENST00000389658.3																			0				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						c.(1486-1488)acfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81	95	90					18																	7038885		2203	4300	6503	SO:0001589	frameshift_variant	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.chr18:7038885delT	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.1487delA	18.37:g.7038885delT	ENSP00000374309:p.Asn496fs						p.N496fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			11	1580	-		Colorectal(10;0.172)	496			Laminin EGF-like 4.			Frame_Shift_Del	DEL	ENST00000389658.3	37	c.1487delA	CCDS32787.1																																																																																				0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	725						7	725	---	---	---	---	-	7038885	T	-	7038885	7	5	30	1	0	1	0	1	0	0	0	0	8636	1725	60	0	7952	0	LAMA1	18	7038885	Frame_Shift_Del	DEL	T	TCGA-3A-A9IL-01A-11D-A38G-08		7038885	71038363	44	3708											
GRIN3B	116444	broad.mit.edu	37	chr19	1005484	1005484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgtccagctacacgGccaacctggctgccgtcatg	12	14	1	0			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:1005484G>A	ENST00000234389.3	+	3	2003	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	662					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTACACGGCCAACCTGGC	0.677																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1984-1986)Gcc>Acc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						46	46	46					19																	1005484		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005484G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1984G>A	19.37:g.1005484G>A	ENSP00000234389:p.Ala662Thr						p.A662T	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	3	2003	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	662					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1984G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555006	0.86231	.	.	ENSG00000116032	ENST00000234389	T	0.74315	-0.83	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.91768	3.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91584	0.5281	10	0.87932	D	0	.	15.5149	0.75815	0.0:0.0:1.0:0.0	.	662	O60391	NMD3B_HUMAN	T	662	ENSP00000234389:A662T	ENSP00000234389:A662T	A	+	1	0	GRIN3B	956484	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.675000	0.98638	2.012000	0.59069	0.306000	0.20318	GCC		0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	154	0	0	0	1	0	4	154					A	1005484	G	A	1005484	3	1	30	1	0	0	0	0	1	0	0	0	6814	1203	42	2	1994	2	GRIN3B	19	1005484	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		1005484	58123499	45	3709											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	895	0	0	0	1	0	8	895					A	12575498	G	A	12575498	3	1	30	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	11570014	12575498	46553485	46	3710											
ZFP82	284406	broad.mit.edu	37	chr19	36884345	36884345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactattaagcttctgatgCcgagtcaggtgtgcgtactg	12	9	2	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:36884345C>T	ENST00000392161.3	-	5	1139	c.897G>A	c.(895-897)cgG>cgA	p.R299R	ZFP82_ENST00000392171.1_Silent_p.R299R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCTTCTGATGCCGAGTCAGGT	0.443																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(895-897)cgG>cgA		ZFP82 zinc finger protein							149	145	146					19																	36884345		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884345C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.897G>A	19.37:g.36884345C>T						ZFP82_ENST00000392171.1_Silent_p.R299R	p.R299R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1139	-			299					Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.897G>A	CCDS12493.1																																																																																				0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	605	0	0	0	1	0	6	605					T	36884345	C	T	36884345	2	4	30	1	0	0	0	0	0	0	0	1	17706	726	26	2		2	ZFP82	19	36884345	Silent	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	24308847	36884345	22244638	47	3711											
ZNF567	163081	broad.mit.edu	37	chr19	37210852	37210852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagaaggcaaatcttaCtgtacatcagagaactcata	6	10	4	2			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:37210852C>G	ENST00000536254.2	+	6	1448	c.1226C>G	c.(1225-1227)aCt>aGt	p.T409S	ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S|ZNF567_ENST00000585696.1_Missense_Mutation_p.T378S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S			Q8N184	ZN567_HUMAN	zinc finger protein 567	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCAAATCTTACTGTACATCAG	0.413																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1132-1134)aCt>aGt		zinc finger protein 567							58	62	61					19																	37210852		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210852C>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1226C>G	19.37:g.37210852C>G	ENSP00000441838:p.Thr409Ser					ZNF567_ENST00000536254.2_Missense_Mutation_p.T409S|ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S	p.T378S			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2363	+	Esophageal squamous(110;0.198)		409					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1133C>G		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351393	0.41700	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35973	1.28;1.28;1.28	5.18	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000449	T	0.18551	0.0445	N	0.17594	0.5	0.22591	N	0.99896	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.09952	-1.0651	10	0.27785	T	0.31	.	5.3548	0.16055	0.1608:0.6658:0.0:0.1734	.	409;378	Q8N184;F8WEL6	ZN567_HUMAN;.	S	409;353;378;408;378	ENSP00000441838:T409S;ENSP00000353957:T378S;ENSP00000376003:T378S	ENSP00000353957:T378S	T	+	2	0	ZNF567	41902692	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-1.558000	0.02164	1.387000	0.46486	0.561000	0.74099	ACT		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		75	300	0	0	0	1	0	75	300					G	37210852	C	G	37210852	3	3	30	1	0	0	0	0	1	0	0	0	18051	565	20	5	1143	5	ZNF567	19	37210852	Missense_Mutation	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	326507	37210852	21918131	48	3712											
VRK3	51231	broad.mit.edu	37	chr19	50519379	50519379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcagaatttgaatgccGcttggatacttttgccacag	12	8	0	2			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:50519379G>A	ENST00000599538.1	-	3	705	c.41C>T	c.(40-42)gCg>gTg	p.A14V	VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	14					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTTGAATGCCGCTTGGATACT	0.468																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(40-42)gCg>gTg		vaccinia related kinase 3							108	104	105					19																	50519379		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50519379G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.41C>T	19.37:g.50519379G>A	ENSP00000469880:p.Ala14Val					VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR	p.A14V			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	3	705	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	14					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.41C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119082	0.06838	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.25912	1.77;1.79	4.52	2.36	0.29203	.	0.598744	0.17197	N	0.183287	T	0.14570	0.0352	L	0.52759	1.655	0.09310	N	1	P;B;B;B;B	0.38300	0.626;0.054;0.027;0.066;0.066	B;B;B;B;B	0.27170	0.077;0.011;0.02;0.019;0.019	T	0.13953	-1.0490	10	0.11485	T	0.65	-0.861	5.109	0.14800	0.1072:0.0:0.6879:0.2049	.	14;14;14;14;14	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	V	14	ENSP00000324636:A14V;ENSP00000366210:A14V	ENSP00000324636:A14V	A	-	2	0	VRK3	55211191	0.004000	0.15560	0.007000	0.13788	0.166000	0.22503	0.811000	0.27198	0.802000	0.34089	0.650000	0.86243	GCG		0.468	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		6	310	0	0	0	1	0	6	310					A	50519379	G	A	50519379	3	1	30	1	0	0	0	0	1	0	0	0	17275	1087	38	1	1431	1	VRK3	19	50519379	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	13308527	50519379	8609604	49	3713											
DEPDC5	9681	broad.mit.edu	37	chr22	32211058	32211058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccttccctaccaagccGcacactgcccactgaggaag	8	18	0	1	rs372489331		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr22:32211058G>A	ENST00000382112.3	+	20	1596	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	509					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						CTACCAAGCCGCACACTGCCC	0.572																																						ENST00000400246.1																			0				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						c.(1525-1527)cGc>cAc		DEP domain containing 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4112		0,0,2056	86	88	87		1526,1526,1526,1526,1526	3.9	0.1	22		87	1,8415		0,1,4207	no	missense,missense,missense,missense,missense	DEPDC5	NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29,29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/560,509/1595,509/1604,509/1504,509/1573	32211058	1,12527	2056	4208	6264	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32211058G>A	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.1526G>A	22.37:g.32211058G>A	ENSP00000371546:p.Arg509His					DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H	p.R509H			O75140	DEPD5_HUMAN			21	1668	+			509					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1526G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846647	0.51164	0.0	1.19E-4	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.51071	1.43;1.42;0.72;1.81;1.8;1.79;1.39;1.8;1.79;1.8	6.01	3.93	0.45458	.	0.050574	0.85682	D	0.000000	T	0.59770	0.2218	L	0.57536	1.79	0.58432	D	0.999993	D;D;P;D;D;D	0.76494	0.999;0.975;0.547;0.999;0.999;0.992	P;P;B;P;P;P	0.62184	0.899;0.503;0.138;0.891;0.899;0.557	T	0.58885	-0.7557	10	0.44086	T	0.13	.	12.4786	0.55829	0.1353:0.0:0.8647:0.0	.	509;481;509;509;509;509	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	509;481;509;509;509;509;509;509;509;509;509	ENSP00000440210:R509H;ENSP00000441358:R481H;ENSP00000383101:R509H;ENSP00000266091:R509H;ENSP00000383108:R509H;ENSP00000383105:R509H;ENSP00000371539:R509H;ENSP00000371546:R509H;ENSP00000371545:R509H;ENSP00000383107:R509H	ENSP00000266091:R509H	R	+	2	0	DEPDC5	30541058	1.000000	0.71417	0.051000	0.19133	0.396000	0.30629	4.969000	0.63735	0.894000	0.36317	0.558000	0.71614	CGC		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	311	0	0	0	1	0	5	311					A	32211058	G	A	32211058	3	1	30	1	0	0	0	0	1	0	0	0	4458	1087	38	1	1604	1	DEPDC5	22	32211058	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08		32211058	19093508	50	3714											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		8	186						8	186	---	---	---	---	-	21627680	GAG	-	21627678	7	5	30	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-3A-A9IL-01A-11D-A38G-08		21627678	133642882	51	3715											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	182	0	0	0	1	0	4	182					T	112058796	C	T	112058796	2	4	30	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-3A-A9IL-01A-11D-A38G-08	90431118	112058796	43211764	52	3716											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179	175	176					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	1262						8	1262	---	---	---	---	-	135314194	G	-	135314194	7	5	30	1	0	1	0	1	0	0	0	0	9310	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-3A-A9IL-01A-11D-A38G-08	23255398	135314194	19956366	53	3717											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	405	0	0	0	1	0	5	405					T	149639635	A	T	149639635	3	4	30	1	0	0	0	0	1	0	0	0	9249	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-3A-A9IL-01A-11D-A38G-08	14325441	149639635	5630925	54	3718											
FLNA	2316	broad.mit.edu	37	chrX	153594439	153594439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagggatgggcacgccgGcaaacgtgacgtgcacggtg	18	10	0	1			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:153594439G>A	ENST00000369850.3	-	9	1618	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	FLNA_ENST00000360319.4_Missense_Mutation_p.A461V|FLNA_ENST00000344736.4_Missense_Mutation_p.A461V|FLNA_ENST00000422373.1_Missense_Mutation_p.A461V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	461					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACGCCGGCAAACGTGAC	0.677																																						ENST00000422373.1																			0				breast(6)	6						c.(1381-1383)gCc>gTc		filamin A, alpha							47	55	52					X																	153594439		2155	4227	6382	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594439G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1382C>T	X.37:g.153594439G>A	ENSP00000358866:p.Ala461Val					FLNA_ENST00000360319.4_Missense_Mutation_p.A461V|FLNA_ENST00000344736.4_Missense_Mutation_p.A461V|FLNA_ENST00000369850.3_Missense_Mutation_p.A461V	p.A461V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			9	1630	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		461					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1382C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	7.166	0.586624	0.13749	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.96	4.06	0.47325	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.069730	0.53938	D	0.000041	D	0.89312	0.6679	M	0.93328	3.405	0.80722	D	1	B;B	0.29270	0.24;0.119	B;B	0.34452	0.087;0.183	D	0.88074	0.2802	10	0.87932	D	0	.	12.2745	0.54726	0.0:0.3195:0.6805:0.0	.	461;461	P21333-2;P21333	.;FLNA_HUMAN	V	461;434;461;461;461	ENSP00000353467:A461V;ENSP00000416926:A461V;ENSP00000358866:A461V;ENSP00000358863:A461V	ENSP00000358863:A461V	A	-	2	0	FLNA	153247633	1.000000	0.71417	0.028000	0.17463	0.073000	0.16967	4.756000	0.62205	0.815000	0.34398	0.540000	0.68198	GCC		0.677	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	260	0	0	0	1	0	4	260					A	153594439	G	A	153594439	3	1	30	1	0	0	0	0	1	0	0	0	5958	1203	42	2	6721	2	FLNA	23	153594439	Missense_Mutation	SNP	G	TCGA-3A-A9IL-01A-11D-A38G-08	3954804	153594439	1676121	55	3719											
DCST2	127579	broad.mit.edu	37	chr1	154996955	154996955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggcctcaccgactggCcagcactaggaaggcacttc	11	14	1	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:154996955C>T	ENST00000368424.3	-	11	1793	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	DCST2_ENST00000295536.5_Missense_Mutation_p.A579T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	579						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCGACTGGCCAGCACTAGG	0.562																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1735-1737)Gcc>Acc		DC-STAMP domain containing 2							53	54	54					1																	154996955		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154996955C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1735G>A	1.37:g.154996955C>T	ENSP00000357409:p.Ala579Thr					DCST2_ENST00000295536.5_Missense_Mutation_p.A579T	p.A579T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	1793	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		579					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1735G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673178	0.88445	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25414	1.8;1.87	4.38	2.38	0.29361	.	0.262088	0.20104	U	0.099175	T	0.12178	0.0296	L	0.39245	1.2	0.19575	N	0.999961	D	0.63880	0.993	P	0.53649	0.731	T	0.07770	-1.0755	10	0.19590	T	0.45	-17.6357	6.3946	0.21605	0.1796:0.7219:0.0:0.0985	.	579	Q5T1A1	DCST2_HUMAN	T	579	ENSP00000357409:A579T;ENSP00000295536:A579T	ENSP00000295536:A579T	A	-	1	0	DCST2	153263579	0.807000	0.29009	0.861000	0.33841	0.806000	0.45545	1.012000	0.29924	1.049000	0.40321	0.462000	0.41574	GCC		0.562	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		5	290	0	0	0	1	0	5	290					T	154996955	C	T	154996955	3	4	31	1	0	0	0	0	1	0	0	0	4314	739	26	2	606	2	DCST2	1	154996955	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08		154996955	94253666	1	3720											
ETV3L	440695	broad.mit.edu	37	chr1	157068573	157068573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaagtggggggatggCggcgcccgcacttcccacaa	15	13	0	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137					cell differentiation (GO:0030154)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(409-411)ccG>ccA		ets variant 3-like							62	68	66					1																	157068573		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068573C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.411G>A	1.37:g.157068573C>T							p.P137P	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	695	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	137						Silent	SNP	ENST00000454449.2	37	c.411G>A	CCDS30893.1																																																																																				0.592	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		6	336	0	0	0	1	0	6	336					T	157068573	C	T	157068573	2	4	31	1	0	0	0	0	0	0	0	1	5298	755	27	1		1	ETV3L	1	157068573	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	2071618	157068573	92182048	2	3721											
ASTN1	460	broad.mit.edu	37	chr1	177133612	177133612	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtcgttgcgcaccgagaaGaggagcttgggctccgaggc	16	10	0	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:177133612G>A	ENST00000367654.3	-	1	412	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L67L|ASTN1_ENST00000367657.3_Silent_p.L67L|ASTN1_ENST00000361833.2_Silent_p.L67L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	67					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCGAGAAGAGGAGCTTGG	0.627																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(199-201)ctC>ctT		astrotactin 1							68	55	60					1																	177133612		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133612G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.201C>T	1.37:g.177133612G>A						ASTN1_ENST00000367657.3_Silent_p.L67L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L67L|ASTN1_ENST00000424564.2_Silent_p.L67L	p.L67L			O14525	ASTN1_HUMAN			1	214	-			67					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.201C>T																																																																																					0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		42	84	0	0	0	1	0	42	84					A	177133612	G	A	177133612	2	1	31	1	0	0	0	0	0	0	0	1	1065	929	33	2		2	ASTN1	1	177133612	Silent	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	20065039	177133612	72117009	3	3722											
OR2G3	81469	broad.mit.edu	37	chr1	247769306	247769306	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcatgaacccacggcTttgccaacagctggcatcta	8	13	3	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr1:247769306T>A	ENST00000320002.2	+	1	451	c.419T>A	c.(418-420)cTt>cAt	p.L140H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACCCACGGCTTTGCCAACAG	0.507																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(418-420)cTt>cAt		olfactory receptor, family 2, subfamily G, member 3							182	169	173					1																	247769306		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769306T>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.419T>A	1.37:g.247769306T>A	ENSP00000326301:p.Leu140His					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.L140H	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	451	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		140					B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.419T>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660612	0.14645	.	.	ENSG00000177476	ENST00000320002	T	0.00241	8.46	3.8	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.889887	0.08762	U	0.897639	T	0.00552	0.0018	M	0.82923	2.615	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.51244	-0.8730	10	0.72032	D	0.01	.	6.5239	0.22291	0.3928:0.0:0.0:0.6072	.	140	Q8NGZ4	OR2G3_HUMAN	H	140	ENSP00000326301:L140H	ENSP00000326301:L140H	L	+	2	0	OR2G3	245835929	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.165000	0.09968	0.605000	0.29947	-0.731000	0.03576	CTT		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			115	417	0	0	0	1	0	115	417					A	247769306	T	A	247769306	3	1	31	1	0	0	0	0	1	0	0	0	11041	1609	56	5	421	5	OR2G3	1	247769306	Missense_Mutation	SNP	T	TCGA-3A-A9IO-01A-11D-A38G-08	70635694	247769306	1481315	4	3723											
TAF1B	9014	broad.mit.edu	37	chr2	10059788	10059788	+	Frame_Shift_Del	DEL	A	A	-													gagtcaacagcaactgctggAaaaaaaagcccttcaagttt							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:10059788delA	ENST00000263663.5	+	14	1592	c.1404delA	c.(1402-1404)ggafs	p.G468fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	468					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACTGCTGGAAAAAAAAGCC	0.418																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1402-1404)ggfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							76	73	74					2																	10059788		2203	4300	6503	SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10059788delA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1404delA	2.37:g.10059788delA	ENSP00000263663:p.Gly468fs					TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs	p.G468fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			14	1592	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		468					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	c.1404delA	CCDS33143.1																																																																																				0.418	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		7	360						7	360	---	---	---	---	-	10059788	A	-	10059788	7	5	31	1	0	1	0	1	0	0	0	0	15572	233	9	0	1458	0	TAF1B	2	10059788	Frame_Shift_Del	DEL	A	TCGA-3A-A9IO-01A-11D-A38G-08		10059788	233139585	5	3724											
ADCY3	109	broad.mit.edu	37	chr2	25046089	25046089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcactcacagagtcaaaatCtgagatgatttcattgagga	10	7	4	4			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:25046089C>T	ENST00000260600.5	-	17	3723	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D545N|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	958					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGTCAAAATCTGAGATGATT	0.502																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2872-2874)Gat>Aat		adenylate cyclase 3							102	87	92					2																	25046089		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046089C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2872G>A	2.37:g.25046089C>T	ENSP00000260600:p.Asp958Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D545N	p.D958N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3723	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		958					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2872G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541066	0.96474	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81415	-1.49;-1.49	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.73217	2.22	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.97110	1.0;1.0;0.898	D	0.89800	0.3974	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	959;958;545	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	958;545;933	ENSP00000260600:D958N;ENSP00000384484:D545N	ENSP00000260600:D958N	D	-	1	0	ADCY3	24899593	1.000000	0.71417	0.779000	0.31741	0.978000	0.69477	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAT		0.502	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			10	107	0	0	0	1	0	10	107					T	25046089	C	T	25046089	3	4	31	1	0	0	0	0	1	0	0	0	295	913	32	2	582	2	ADCY3	2	25046089	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	14986301	25046089	218153284	6	3725											
SIX2	10736	broad.mit.edu	37	chr2	45236176	45236176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagccgctcgatgttgCcgccctgctgcagcacctcg	12	18	0	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:45236176C>T	ENST00000303077.6	-	1	393	c.74G>A	c.(73-75)gGc>gAc	p.G25D		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G25V(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCGATGTTGCCGCCCTGCTG	0.682																																						ENST00000303077.6																			1	Substitution - Missense(1)	p.G25V(1)	lung(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(73-75)gGc>gAc		SIX homeobox 2							16	16	16					2																	45236176		2200	4295	6495	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236176C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.74G>A	2.37:g.45236176C>T	ENSP00000304502:p.Gly25Asp						p.G25D	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	393	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	25					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.74G>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087238	0.76642	.	.	ENSG00000170577	ENST00000303077	D	0.90133	-2.62	4.25	3.33	0.38152	.	0.000000	0.85682	U	0.000000	D	0.94938	0.8363	H	0.94808	3.585	0.80722	D	1	P;P	0.52170	0.918;0.951	P;P	0.52598	0.558;0.703	D	0.95287	0.8391	10	0.87932	D	0	-18.7455	13.3425	0.60553	0.0:0.8395:0.1604:0.0	.	25;25	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	D	25	ENSP00000304502:G25D	ENSP00000304502:G25D	G	-	2	0	SIX2	45089680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	0.706000	0.31912	0.462000	0.41574	GGC		0.682	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			4	95	0	0	0	1	0	4	95					T	45236176	C	T	45236176	3	4	31	1	0	0	0	0	1	0	0	0	14397	739	26	2	809	2	SIX2	2	45236176	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	20190087	45236176	197963197	7	3726											
POLR1A	25885	broad.mit.edu	37	chr2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatacaggaggtttgatgCcggtgaggaacctgccagtg	14	8	0	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:86272753C>T	ENST00000263857.6	-	20	3251	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	958					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2872-2874)gGc>gAc		polymerase (RNA) I polypeptide A, 194kDa							80	92	88					2																	86272753		1909	4134	6043	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272753C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2873G>A	2.37:g.86272753C>T	ENSP00000263857:p.Gly958Asp					POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D	p.G958D			O95602	RPA1_HUMAN			20	3251	-			958					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2873G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036329	0.75617	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.94862	-3.54;-3.54	5.71	5.71	0.89125	RNA polymerase Rpb1, domain 5 (1);	0.053139	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99486	1.0949	10	0.87932	D	0	-25.7735	18.0404	0.89317	0.0:1.0:0.0:0.0	.	958	O95602	RPA1_HUMAN	D	958	ENSP00000263857:G958D;ENSP00000386300:G958D	ENSP00000263857:G958D	G	-	2	0	POLR1A	86126264	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.126000	0.77201	2.710000	0.92621	0.655000	0.94253	GGC		0.512	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		6	429	0	0	0	1	0	6	429					T	86272753	C	T	86272753	3	4	31	1	0	0	0	0	1	0	0	0	12251	739	26	2	2349	2	POLR1A	2	86272753	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	41036577	86272753	156926620	8	3727											
GLI2	2736	broad.mit.edu	37	chr2	121726395	121726395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctgcagcggatgatccGcacctcacccaactcgctag	10	16	1	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:121726395G>A	ENST00000452319.1	+	6	809	c.749G>A	c.(748-750)cGc>cAc	p.R250H	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R250H|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGATGATCCGCACCTCACCC	0.667																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(748-750)cGc>cAc		GLI family zinc finger 2							79	71	74					2																	121726395		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726395G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.749G>A	2.37:g.121726395G>A	ENSP00000390436:p.Arg250His					GLI2_ENST00000361492.4_Missense_Mutation_p.R250H|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.R250H			P10070	GLI2_HUMAN			6	809	+	Renal(3;0.0496)	Prostate(154;0.0623)	250						Missense_Mutation	SNP	ENST00000452319.1	37	c.749G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389944	0.95988	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70631	-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88909	0.3358	10	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	250;250	P10070;Q0VGA0	GLI2_HUMAN;.	H	250	ENSP00000390436:R250H;ENSP00000354586:R250H	ENSP00000354586:R250H	R	+	2	0	GLI2	121442865	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.601000	0.98297	2.557000	0.86248	0.655000	0.94253	CGC		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		5	275	0	0	0	1	0	5	275					A	121726395	G	A	121726395	3	1	31	1	0	0	0	0	1	0	0	0	6467	1087	38	1	767	1	GLI2	2	121726395	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	35453642	121726395	121472978	9	3728											
GTF3C3	9330	broad.mit.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T													tgaggtgccttcttctgaagINStttttttttccagcacaatt							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			7	342						7	342	---	---	---	---	T	197649614	-	T	197649613	7	5	31	1	0	1	1	0	0	0	0	0	6904	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08	75923218	197649613	45549760	10	3729											
ARPP21	10777	broad.mit.edu	37	chr3	35785355	35785355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatattattacccatctGgtcagtaccctacctcaacc	4	14	3	0	rs141444314		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:35785355G>T	ENST00000187397.4	+	18	2386	c.1930G>T	c.(1930-1932)Ggt>Tgt	p.G644C	ARPP21_ENST00000337271.5_Missense_Mutation_p.G625C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G645C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G645C|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Missense_Mutation_p.G625C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	644	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTACCCATCTGGTCAGTACCC	0.448																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1930-1932)Ggt>Tgt		cAMP-regulated phosphoprotein, 21kDa		G	CYS/GLY	1,4405	2.1+/-5.4	0,1,2202	123	119	120		1930	4.9	1	3	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARPP21	NM_016300.4	159	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	probably-damaging	644/813	35785355	2,13004	2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785355G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1930G>T	3.37:g.35785355G>T	ENSP00000187397:p.Gly644Cys					ARPP21_ENST00000444190.1_Missense_Mutation_p.G625C|ARPP21_ENST00000337271.5_Missense_Mutation_p.G625C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G645C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G645C	p.G644C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			18	2386	+			644			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1930G>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248751	0.80024	2.27E-4	1.16E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.82	4.95	0.65309	.	0.129263	0.50627	D	0.000108	T	0.72104	0.3419	M	0.77103	2.36	0.46849	D	0.999227	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	T	0.75958	-0.3134	10	0.72032	D	0.01	-9.9121	13.2052	0.59790	0.0735:0.0:0.9265:0.0	.	645;167;644;625	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	C	645;625;625;644;645	ENSP00000414351:G645C;ENSP00000337792:G625C;ENSP00000405276:G625C;ENSP00000187397:G644C;ENSP00000412326:G645C	ENSP00000187397:G644C	G	+	1	0	ARPP21	35760359	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.027000	0.88791	1.459000	0.47892	0.655000	0.94253	GGT		0.448	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	329	1	0	0.014758	1	0.0152499	5	329					T	35785355	G	T	35785355	3	4	31	1	0	0	0	0	1	0	0	0	979	1348	47	3	2005	3	ARPP21	3	35785355	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08		35785355	162237075	11	3730											
NPRL2	10641	broad.mit.edu	37	chr3	50385605	50385623	+	Frame_Shift_Del	DEL	CACGGTAGTGCCAGGGCTC	CACGGTAGTGCCAGGGCTC	-													tggcggccaatgaggtctcgCacggtagtgccagggctcag					rs587650218		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC	ENST00000232501.3	-	9	1302_1320	c.864_882delGAGCCCTGGCACTACCGTG	c.(862-882)ctgagccctggcactaccgtgfs	p.LSPGTTV288fs	NPRL2_ENST00000493465.1_Intron|CYB561D2_ENST00000232508.5_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000424512.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	288					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGT	0.598																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(862-882)ctfs		nitrogen permease regulator-like 2 (S. cerevisiae)																																				SO:0001589	frameshift_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.864_882delGAGCCCTGGCACTACCGTG	3.37:g.50385605_50385623delCACGGTAGTGCCAGGGCTC	ENSP00000232501:p.Leu288fs					NPRL2_ENST00000493465.1_Intron	p.LSPGTTV288fs	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			9	1302_1320	-			288					A8K831|Q6FGS2|Q9Y249|Q9Y497	Frame_Shift_Del	DEL	ENST00000232501.3	37	c.864_882delGAGCCCTGGCACTACCGTG	CCDS2826.1																																																																																				0.598	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		53	86						53	86	---	---	---	---	-	50385623	CACGGTAGTGCCAGGGCTC	-	50385605	7	5	31	1	0	1	0	1	0	0	0	0	10639	697	25	0	272	0	NPRL2	3	50385605	Frame_Shift_Del	DEL	CACGGTAGTGCCAGGGCTC	TCGA-3A-A9IO-01A-11D-A38G-08	14600250	50385605	147636825	12	3731											
ABHD6	57406	broad.mit.edu	37	chr3	58242348	58242348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaacatgtttgtgattgCgggcggcacgctggccatcc	14	10	0	1	rs201561775	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:58242348C>T	ENST00000478253.1	+	3	536	c.35C>T	c.(34-36)gCg>gTg	p.A12V	ABHD6_ENST00000295962.4_Missense_Mutation_p.A12V			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	12					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTTGTGATTGCGGGCGGCACG	0.463													C|||	2	0.000399361	0.0	0.0	5008	,	,		19875	0.002		0.0	False		,,,				2504	0.0					ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(34-36)gCg>gTg		abhydrolase domain containing 6							168	159	162					3																	58242348		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58242348C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.35C>T	3.37:g.58242348C>T	ENSP00000420315:p.Ala12Val					ABHD6_ENST00000295962.4_Missense_Mutation_p.A12V	p.A12V			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	3	536	+			12					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.35C>T	CCDS2887.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.581975	0.96578	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;T	0.82081	-1.57;-1.57;-1.57;0.78	5.67	5.67	0.87782	.	0.046168	0.85682	D	0.000000	D	0.87920	0.6299	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.54100	0.739;0.742	D	0.86721	0.1942	10	0.37606	T	0.19	-0.216	18.5426	0.91035	0.0:1.0:0.0:0.0	.	12;12	Q9BV23;F5H7L1	ABHD6_HUMAN;.	V	12	ENSP00000420315:A12V;ENSP00000295962:A12V;ENSP00000420408:A12V;ENSP00000418934:A12V	ENSP00000295962:A12V	A	+	2	0	ABHD6	58217388	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.021000	0.76425	2.682000	0.91365	0.484000	0.47621	GCG		0.463	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		5	286	0	0	0	1	0	5	286					T	58242348	C	T	58242348	3	4	31	1	0	0	0	0	1	0	0	0	86	768	27	1	37	1	ABHD6	3	58242348	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	7856743	58242348	139780082	13	3732											
ACOX2	8309	broad.mit.edu	37	chr3	58514557	58514558	+	Frame_Shift_Del	DEL	AG	AG	-													aagtcttggttcagaatggcAgtgtaggagtgctggaagaa							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:58514557_58514558delAG	ENST00000302819.5	-	9	1409_1410	c.1118_1119delCT	c.(1117-1119)actfs	p.T373fs	ACOX2_ENST00000459701.2_Frame_Shift_Del_p.T359fs	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	373					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCAGAATGGCAGTGTAGGAGTG	0.55																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1117-1119)afs		acyl-CoA oxidase 2, branched chain																																				SO:0001589	frameshift_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58514557_58514558delAG	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1118_1119delCT	3.37:g.58514557_58514558delAG	ENSP00000307697:p.Thr373fs					ACOX2_ENST00000459701.2_Frame_Shift_Del_p.T359fs	p.T373fs	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	9	1409_1410	-			373					A6NF16|B2R8U5	Frame_Shift_Del	DEL	ENST00000302819.5	37	c.1118_1119delCT	CCDS33775.1																																																																																				0.55	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			74	63						74	63	---	---	---	---	-	58514558	AG	-	58514557	7	5	31	1	0	1	0	1	0	0	0	0	159	175	7	0	954	0	ACOX2	3	58514557	Frame_Shift_Del	DEL	AG	TCGA-3A-A9IO-01A-11D-A38G-08	272209	58514557	139507873	14	3733											
MFN1	55669	broad.mit.edu	37	chr3	179076706	179076706	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgggattggccatataacCaattgcttcctaagtgttga	10	7	0	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr3:179076706C>A	ENST00000471841.1	+	4	453	c.327C>A	c.(325-327)acC>acA	p.T109T	MFN1_ENST00000280653.7_Silent_p.T109T|MFN1_ENST00000263969.5_Silent_p.T109T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	109	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCCATATAACCAATTGCTTCC	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(325-327)acC>acA		mitofusin 1							163	150	155					3																	179076706		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076706C>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.327C>A	3.37:g.179076706C>A						MFN1_ENST00000280653.7_Silent_p.T109T|MFN1_ENST00000263969.5_Silent_p.T109T	p.T109T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	453	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		109					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.327C>A	CCDS3228.1																																																																																				0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		4	214	1	0	1	1	1	4	214					A	179076706	C	A	179076706	2	1	31	1	0	0	0	0	0	0	0	1	9564	581	21	3		3	MFN1	3	179076706	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	120562149	179076706	18945724	15	3734											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	256						7	256	---	---	---	---	-	56304532	CTG	-	56304530	7	5	31	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-3A-A9IO-01A-11D-A38G-08		56304530	134849746	16	3735											
ACSL1	2180	broad.mit.edu	37	chr4	185678849	185678849	+	Frame_Shift_Del	DEL	T	T	-													accatatcttcgaggatagcTtttttgacatcctaaaaggg					rs139154123		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr4:185678849delT	ENST00000515030.1	-	20	2221	c.1896delA	c.(1894-1896)aaafs	p.K632fs	ACSL1_ENST00000281455.2_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.K598fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	632					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)			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)	CGAGGATAGCTTTTTTGACAT	0.383																																						ENST00000515030.1																			0				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						c.(1894-1896)aafs		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						156	162	160					4																	185678849		2203	4300	6503	SO:0001589	frameshift_variant	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.chr4:185678849delT	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.1896delA	4.37:g.185678849delT	ENSP00000422607:p.Lys632fs					ACSL1_ENST00000281455.2_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.K598fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.K461fs	p.K632fs			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)	20	2221	-		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)	632					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Frame_Shift_Del	DEL	ENST00000515030.1	37	c.1896delA	CCDS3839.1																																																																																				0.383	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		8	1003						8	1003	---	---	---	---	-	185678849	T	-	185678849	7	5	31	1	0	1	0	1	0	0	0	0	177	1606	56	0	208	0	ACSL1	4	185678849	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	129374319	185678849	5475427	17	3736											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	1382						7	1382	---	---	---	---	-	27420810	T	-	27420810	7	5	31	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08		27420810	143694257	18	3737											
OR2J2	26707	broad.mit.edu	37	chr6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-													gaaaaagatgaatgatgattAaaaaaaatgcaagttcggaa					rs556940268|rs201438710	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aaafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													AAAAAAAA|AAAAAAAA|AAAAAAA|deletion	21	0.00419329	0.0144	0.0014	5008	,	,		19015	0.0		0.001	False		,,,				2504	0.0					ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(10-12)aafs		olfactory receptor, family 2, subfamily J, member 2							105	102	103					6																	29141422		1836	4079	5915	SO:0001589	frameshift_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141422delA		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.10delA	6.37:g.29141422delA	ENSP00000366372:p.Lys5fs						p.K5fs	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	112	+			5					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Frame_Shift_Del	DEL	ENST00000377167.2	37	c.10delA	CCDS43434.1																																																																																				0.358	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			8	656						8	656	---	---	---	---	-	29141422	A	-	29141422	7	5	31	1	0	1	0	1	0	0	0	0	11045	363	13	0	12	0	OR2J2	6	29141422	Frame_Shift_Del	DEL	A	TCGA-3A-A9IO-01A-11D-A38G-08	1720612	29141422	141973645	19	3738											
ZBTB22	9278	broad.mit.edu	37	chr6	33283321	33283321	+	Frame_Shift_Del	DEL	C	C	-													ccaggctccccaccgacgtgCcccccacggtcactgccccg							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:33283321delC	ENST00000431845.2	-	2	1524	c.1373delG	c.(1372-1374)ggcfs	p.G458fs	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G458fs|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CACCGACGTGCCCCCCACGGT	0.632																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1372-1374)gcfs		zinc finger and BTB domain containing 22							112	124	120					6																	33283321		2203	4300	6503	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283321delC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1373delG	6.37:g.33283321delC	ENSP00000407545:p.Gly458fs					ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G458fs	p.G458fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1524	-			458					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1373delG	CCDS4775.1																																																																																				0.632	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	890						8	890	---	---	---	---	-	33283321	C	-	33283321	7	5	31	1	0	1	0	1	0	0	0	0	17583	739	26	0	535	0	ZBTB22	6	33283321	Frame_Shift_Del	DEL	C	TCGA-3A-A9IO-01A-11D-A38G-08	4141899	33283321	137831746	20	3739											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-													ctttagccttctgcacatgcTttttttgcatcatgcctttc							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170	155	159					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	644						7	644	---	---	---	---	-	34826124	T	-	34826124	7	5	31	1	0	1	0	1	0	0	0	0	17022	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	1542803	34826124	136288943	21	3740											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880692	111880693	+	Frame_Shift_Ins	INS	-	-	T													tcagcagccgcagcaggatgINSttttttttattcttgggcca					rs186097801	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:111880692_111880693insT	ENST00000340026.6	-	10	2234_2235	c.1640_1641insA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N538fs|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGCAGGATGTTTTTTTTATT	0.55																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)aatfs		TRAF3 interacting protein 2			,,,	0,4264		0,0,2132					,,,	2.5	1			119	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	TRAF3IP2	NM_147686.2,NM_001164283.1,NM_001164282.1,NM_001164281.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880692_111880693insT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1641dupA	6.37:g.111880700_111880700dupT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368731.2_5'UTR	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091_2092	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37	c.1613_1614insA																																																																																					0.55	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			7	664						7	664	---	---	---	---	T	111880693	-	T	111880692	7	5	31	1	0	1	1	0	0	0	0	0	16494	1368	48	0	87	0	TRAF3IP2	6	111880692	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08	77054568	111880692	59234375	22	3741											
RFX6	222546	broad.mit.edu	37	chr6	117244332	117244332	+	Frame_Shift_Del	DEL	T	T	-													gactttctgttaaagtggagTttttttggtgctcgagtaat							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr6:117244332delT	ENST00000332958.2	+	14	1516	c.1500delT	c.(1498-1500)agtfs	p.S500fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	500					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TAAAGTGGAGTTTTTTTGGTG	0.328																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1498-1500)agfs		regulatory factor X, 6							155	147	149					6																	117244332		2203	4300	6503	SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117244332delT	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1500delT	6.37:g.117244332delT	ENSP00000332208:p.Ser500fs						p.S500fs	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			14	1516	+			500					Q5T6B3	Frame_Shift_Del	DEL	ENST00000332958.2	37	c.1500delT	CCDS5113.1																																																																																				0.328	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		8	732						8	732	---	---	---	---	-	117244332	T	-	117244332	7	5	31	1	0	1	0	1	0	0	0	0	13317	1722	60	0	1554	0	RFX6	6	117244332	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	5363640	117244332	53870735	23	3742											
PHTF2	57157	broad.mit.edu	37	chr7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-													tgtctcttgtgtggattttcTtttttttgctctgtgtagca							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155	145	148					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		8	682						8	682	---	---	---	---	-	77569581	T	-	77569581	7	5	31	1	0	1	0	1	0	0	0	0	11905	1609	56	0	1700	0	PHTF2	7	77569581	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08		77569581	81569082	24	3743											
CBLL1	79872	broad.mit.edu	37	chr7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgctattttacatgAaaaaaagggagataagatgt							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:107395909delA	ENST00000440859.3	+	5	880	c.413delA	c.(412-414)gaafs	p.E138fs	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	138					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ATTTTACATGAAAAAAAGGGA	0.269																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(412-414)gafs		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							114	119	117					7																	107395909		2203	4298	6501	SO:0001589	frameshift_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395909delA	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.413delA	7.37:g.107395909delA	ENSP00000401277:p.Glu138fs					CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	p.E138fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			5	880	+			138					B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	37	c.413delA	CCDS5747.1																																																																																				0.269	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		8	1265						8	1265	---	---	---	---	-	107395909	A	-	107395909	7	5	31	1	0	1	0	1	0	0	0	0	2710	246	9	0	431	0	CBLL1	7	107395909	Frame_Shift_Del	DEL	A	TCGA-3A-A9IO-01A-11D-A38G-08	29826328	107395909	51742754	25	3744											
CFTR	1080	broad.mit.edu	37	chr7	117188877	117188877	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatccactggagcaggcaaGgtagttcttttgttcttcac	11	9	3	0	rs397508198		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr7:117188877G>T	ENST00000003084.6	+	10	1524	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	464	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAGCAGGCAAGGTAGTTCTTT	0.373									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM034784	CFTR	M		c.e10+1		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						37	37	37					7																	117188877		2203	4299	6502	SO:0001630	splice_region_variant	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117188877G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1392+1G>T	7.37:g.117188877G>T						CFTR_ENST00000454343.1_Intron	p.K464_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		10	1524	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		464			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	c.1392_splice	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527048	0.64860	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.98926	-5.24;-5.24	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97912	1.0309	10	0.87932	D	0	-17.2567	18.3148	0.90217	0.0:0.0:1.0:0.0	.	464	P13569	CFTR_HUMAN	N	464;434	ENSP00000003084:K464N;ENSP00000389119:K434N	ENSP00000003084:K464N	K	+	3	2	CFTR	116976113	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.920000	0.70017	2.395000	0.81488	0.650000	0.86243	AAG		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Missense_Mutation	5	199	1	0	0.00010058	1	0.000106295	5	199					T	117188877	G	T	117188877	5	4	31	1	0	0	0	0	0	0	1	0	3303	1014	35	3	1430	3	CFTR	7	117188877	Splice_Site	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	9792968	117188877	41949786	26	3745											
LOXL2	4017	broad.mit.edu	37	chr8	23167294	23167294	+	Frame_Shift_Del	DEL	G	G	-													agccggcggtagcccgtggtGgggtcggtctgcgcggctga							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:23167294delG	ENST00000389131.3	-	10	2136	c.1767delC	c.(1765-1767)cccfs	p.P589fs		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	589	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1765-1767)ccfs		lysyl oxidase-like 2							36	34	35					8																	23167294		2203	4300	6503	SO:0001589	frameshift_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167294delG	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1767delC	8.37:g.23167294delG	ENSP00000373783:p.Pro589fs						p.P589fs	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2136	-		Prostate(55;0.0453)|Breast(100;0.143)	589			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Frame_Shift_Del	DEL	ENST00000389131.3	37	c.1767delC	CCDS34864.1																																																																																				0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			8	159						8	159	---	---	---	---	-	23167294	G	-	23167294	7	5	31	1	0	1	0	1	0	0	0	0	8938	1335	47	0	577	0	LOXL2	8	23167294	Frame_Shift_Del	DEL	G	TCGA-3A-A9IO-01A-11D-A38G-08		23167294	123196728	27	3746											
GTF2E2	2961	broad.mit.edu	37	chr8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-													ttgttttcttcttctttgacGatgatgatgatgactcagaa					rs572162637|rs113662547		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-105)tcg>tc		general transcription factor IIE, polypeptide 2, beta 34kDa				132,4130		66,0,2065						-1.2	0.3			151	153,8101		76,1,4050	no	coding	GTF2E2	NM_002095.4		142,1,6115	A1A1,A1R,RR		1.8536,3.0971,2.2771				285,12231				SO:0001651	inframe_deletion	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511012_30511014delGAT	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.102_104delATC	8.37:g.30511021_30511023delGAT	ENSP00000348168:p.Ser36del						p.SS34del	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	384_386	-			34			Poly-Ser.		D3DSV2|Q9H2B9	In_Frame_Del	DEL	ENST00000355904.4	37	c.102_104delATC	CCDS6078.1																																																																																				0.384	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		7	785						7	785	---	---	---	---	-	30511014	GAT	-	30511012	7	5	31	1	0	1	0	1	0	0	0	0	6887	1059	37	0	799	0	GTF2E2	8	30511012	In_Frame_Del	DEL	GAT	TCGA-3A-A9IO-01A-11D-A38G-08	7343718	30511012	115853010	28	3747											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203	182	189					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		9	1241						9	1241	---	---	---	---	-	38205092	T	-	38205092	7	5	31	1	0	1	0	1	0	0	0	0	17417	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	7694080	38205092	108158930	29	3748											
RUNX1T1	862	broad.mit.edu	37	chr8	92998452	92998452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggcgtcactgtaccgccgGatccagtaattcaattcttc	8	13	3	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:92998452G>A	ENST00000523629.1	-	9	1633	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000422361.2_Silent_p.I356I|RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000436581.2_Silent_p.I404I|RUNX1T1_ENST00000520724.1_Silent_p.I356I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	393					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCCGGATCCAGTAAT	0.512																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1177-1179)atC>atT		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							122	122	122					8																	92998452		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998452G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1179C>T	8.37:g.92998452G>A						RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000436581.2_Silent_p.I404I|RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000520724.1_Silent_p.I356I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000422361.2_Silent_p.I356I	p.I393I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1633	-			393					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1179C>T	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		32	631	0	0	0	1	0	32	631					A	92998452	G	A	92998452	2	1	31	1	0	0	0	0	0	0	0	1	13797	1164	41	2		2	RUNX1T1	8	92998452	Silent	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	54793360	92998452	53365570	30	3749											
EPPK1	83481	broad.mit.edu	37	chr8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagagggcagcagccGcacaccgcccacagctccca	11	19	0	1	rs373257586		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCAGCAGCCGCACACCGCCC	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		14805	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2806-2808)Cgg>Tgg		epiplakin 1		G	TRP/ARG	1,4061		0,1,2030	11	14	13		2806	2	0.1	8		13	1,8323		0,1,4161	no	missense	EPPK1	NM_031308.1	101	0,2,6191	AA,AG,GG		0.012,0.0246,0.0161	possibly-damaging	936/2420	144944616	2,12384	2031	4162	6193	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944616G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2806C>T	8.37:g.144944616G>A	ENSP00000436337:p.Arg936Trp						p.R936W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2877	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		936					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2806C>T		.	.	.	.	.	.	.	.	.	.	G	8.620	0.891090	0.17613	2.46E-4	1.2E-4	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.8	1.98	0.26296	.	.	.	.	.	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.37888	-0.9686	9	0.35671	T	0.21	.	7.0541	0.25089	0.0834:0.0:0.6132:0.3034	.	936	E9PPU0	.	W	936	ENSP00000436337:R936W	ENSP00000436337:R936W	R	-	1	2	EPPK1	145016604	0.000000	0.05858	0.052000	0.19188	0.004000	0.04260	-0.526000	0.06207	0.223000	0.20920	-0.152000	0.13540	CGG		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	118	0	0	0	1	0	5	118					A	144944616	G	A	144944616	3	1	31	1	0	0	0	0	1	0	0	0	5208	1086	38	1	4460	1	EPPK1	8	144944616	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	51946164	144944616	1419406	31	3750											
CPSF1	29894	broad.mit.edu	37	chr8	145620126	145620126	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtgacctcctccccctGcatgaggcaggtcccggcgg	13	17	0	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr8:145620126G>A	ENST00000349769.3	-	30	3479	c.3385C>T	c.(3385-3387)Cag>Tag	p.Q1129*	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1129					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTCCCCCTGCATGAGGCAG	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3385-3387)Cag>Tag		cleavage and polyadenylation specific factor 1, 160kDa							30	32	31					8																	145620126		2203	4300	6503	SO:0001587	stop_gained	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620126G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3385C>T	8.37:g.145620126G>A	ENSP00000339353:p.Gln1129*						p.Q1129*	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		30	3479	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1129					Q96AF0	Nonsense_Mutation	SNP	ENST00000349769.3	37	c.3385C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	42	9.181854	0.99092	.	.	ENSG00000071894	ENST00000349769	.	.	.	4.86	4.86	0.63082	.	0.139297	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0483	13.8397	0.63430	0.0:0.0:1.0:0.0	.	.	.	.	X	1129	.	ENSP00000339353:Q1129X	Q	-	1	0	CPSF1	145590934	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.086000	0.76885	2.424000	0.82194	0.561000	0.74099	CAG		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	181	0	0	0	1	0	4	181					A	145620126	G	A	145620126	4	1	31	1	0	0	0	0	0	1	0	0	3833	1328	46	2	982	2	CPSF1	8	145620126	Nonsense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	675510	145620126	743896	32	3751											
CNTLN	54875	broad.mit.edu	37	chr9	17416086	17416086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaatgccaagaaaacaGcagaattgtctgttaaagaa	8	6	2	4			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:17416086G>A	ENST00000380647.3	+	18	3097	c.3013G>A	c.(3013-3015)Gca>Aca	p.A1005T	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1005					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAAGAAAACAGCAGAATTGTC	0.348																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3013-3015)Gca>Aca		centlein, centrosomal protein							87	83	84					9																	17416086		1826	4079	5905	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17416086G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3013G>A	9.37:g.17416086G>A	ENSP00000370021:p.Ala1005Thr					CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T	p.A1005T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	18	3097	+			1005					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3013G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717140	0.48622	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.24151	1.87;1.87;2.13	4.98	4.06	0.47325	.	.	.	.	.	T	0.28433	0.0703	L	0.58669	1.825	0.36720	D	0.881143	P;P;P	0.46142	0.865;0.873;0.873	B;P;P	0.45681	0.301;0.49;0.49	T	0.11567	-1.0582	9	0.15952	T	0.53	.	12.2323	0.54495	0.0859:0.0:0.9141:0.0	.	1005;1005;1005	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	1005	ENSP00000370021:A1005T;ENSP00000392798:A1005T;ENSP00000262360:A1005T	ENSP00000262360:A1005T	A	+	1	0	CNTLN	17406086	0.986000	0.35501	0.975000	0.42487	0.988000	0.76386	2.929000	0.48916	2.459000	0.83118	0.467000	0.42956	GCA		0.348	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		101	224	0	0	0	1	0	101	224					A	17416086	G	A	17416086	3	1	31	1	0	0	0	0	1	0	0	0	3648	971	34	2	3113	2	CNTLN	9	17416086	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08		17416086	123797345	33	3752											
DENND4C	55667	broad.mit.edu	37	chr9	19316732	19316732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcaagaggcatttttgCgctttatggcgtctatttta	8	6	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:19316732C>T	ENST00000380432.2	+	8	1027	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	332	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGCATTTTTGCGCTTTATGGC	0.413																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(994-996)Cgc>Tgc		DENN/MADD domain containing 4C							121	135	130					9																	19316732		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19316732C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.994C>T	9.37:g.19316732C>T	ENSP00000369797:p.Arg332Cys					DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C|DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000307015.9_5'UTR	p.R332C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			8	1027	+			332			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.994C>T		.	.	.	.	.	.	.	.	.	.	C	16.61	3.169940	0.57584	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.98	4.98	0.66077	dDENN (3);	0.101382	0.64402	D	0.000001	D	0.83686	0.5308	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84288	0.0498	9	0.42905	T	0.14	-8.6552	18.4491	0.90696	0.0:1.0:0.0:0.0	.	332	Q5VZ89	DEN4C_HUMAN	C	332	.	ENSP00000369802:R332C	R	+	1	0	DENND4C	19306732	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.599000	0.82757	2.592000	0.87571	0.460000	0.39030	CGC		0.413	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		7	599	0	0	0	1	0	7	599					T	19316732	C	T	19316732	3	4	31	1	0	0	0	0	1	0	0	0	4451	768	27	1	1024	1	DENND4C	9	19316732	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	1900646	19316732	121896699	34	3753											
PTCH1	5727	broad.mit.edu	37	chr9	98242854	98242854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcgaagtttgtccaccGcaaaggaggtttacctctgc	12	10	1	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:98242854G>A	ENST00000331920.6	-	6	1062	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W|PTCH1_ENST00000430669.2_Missense_Mutation_p.R189W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	255					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTGTCCACCGCAAAGGAGGT	0.458																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(565-567)Cgg>Tgg		patched 1							75	75	75					9																	98242854		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98242854G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.763C>T	9.37:g.98242854G>A	ENSP00000332353:p.Arg255Trp					PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W|PTCH1_ENST00000331920.6_Missense_Mutation_p.R255W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W	p.R189W			Q13635	PTC1_HUMAN			6	1150	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	255					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.565C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958524	0.74016	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.71;-2.71;-2.69;-2.69;-2.71;-2.69;-2.73;-2.14;-2.14;-2.14;-2.14	5.88	4.97	0.65823	.	0.273612	0.42294	D	0.000724	D	0.92698	0.7679	L	0.50333	1.59	0.36534	D	0.870929	D;D;D	0.64830	0.987;0.994;0.991	P;P;P	0.58520	0.663;0.84;0.462	D	0.95163	0.8283	10	0.87932	D	0	-10.3087	16.4495	0.83974	0.0:0.0:0.8676:0.1323	.	189;254;255	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	W	255;189;104;104;189;104;254;104;104;104;104	ENSP00000332353:R255W;ENSP00000389744:R189W;ENSP00000399981:R104W;ENSP00000396135:R104W;ENSP00000410287:R189W;ENSP00000414823:R104W;ENSP00000364423:R254W;ENSP00000447797:R104W;ENSP00000447008:R104W;ENSP00000447878:R104W;ENSP00000448843:R104W	ENSP00000332353:R255W	R	-	1	2	PTCH1	97282675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.317000	0.65822	1.471000	0.48121	0.655000	0.94253	CGG		0.458	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		5	344	0	0	0	1	0	5	344					A	98242854	G	A	98242854	3	1	31	1	0	0	0	0	1	0	0	0	12777	1086	38	1	3652	1	PTCH1	9	98242854	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	78926122	98242854	42970577	35	3754											
ASS1	445	broad.mit.edu	37	chr9	133333912	133333912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggccctgcatcgcccGcaaacaagtggaaatcgccc	10	16	0	0	rs138279074	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr9:133333912G>A	ENST00000372394.1	+	5	780	c.299G>A	c.(298-300)cGc>cAc	p.R100H	ASS1_ENST00000352480.5_Missense_Mutation_p.R100H|ASS1_ENST00000372393.3_Missense_Mutation_p.R100H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	100					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGCATCGCCCGCAAACAAGTG	0.637													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18364	0.0		0.0	False		,,,				2504	0.001					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17	GRCh37	CD031816	ASS1	D	rs138279074	c.(298-300)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	G	HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	32	31	31		299,299	4.9	1	9	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASS1	NM_000050.4,NM_054012.3	29,29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	100/413,100/413	133333912	3,13003	2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133333912G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.299G>A	9.37:g.133333912G>A	ENSP00000361471:p.Arg100His					ASS1_ENST00000372393.3_Missense_Mutation_p.R100H|ASS1_ENST00000352480.5_Missense_Mutation_p.R100H	p.R100H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	5	780	+			100					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.299G>A	CCDS6933.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.43	3.388117	0.61956	4.54E-4	1.16E-4	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	4.88	4.88	0.63580	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.168774	0.39083	U	0.001468	D	0.97244	0.9099	M	0.78344	2.41	0.44677	D	0.997665	B;B;B	0.31100	0.308;0.109;0.109	B;B;B	0.20955	0.032;0.032;0.032	D	0.96660	0.9488	10	0.87932	D	0	.	10.6437	0.45606	0.0882:0.0:0.9118:0.0	.	100;100;100	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	H	100	ENSP00000253004:R100H;ENSP00000361471:R100H;ENSP00000361469:R100H;ENSP00000394212:R100H;ENSP00000397785:R100H	ENSP00000361470:R100H	R	+	2	0	ASS1	132323733	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	3.895000	0.56258	2.243000	0.73865	0.650000	0.86243	CGC		0.637	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		4	159	0	0	0	1	0	4	159					A	133333912	G	A	133333912	3	1	31	1	0	0	0	0	1	0	0	0	1062	1087	38	1	309	1	ASS1	9	133333912	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	35091058	133333912	7879519	36	3755											
AGAP7	653268	broad.mit.edu	37	chr10	51465226	51465226	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatggcttggacccaTgcatcccgctcctcatatgt	9	14	2	0	rs1047416		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		410	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1228-1230)gcA>gcC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							19	24	22					10																	51465226		2172	4242	6414	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465226T>G																												ENST00000374095.5:c.1230A>C	10.37:g.51465226T>G							p.A410A	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1355	-			410			PH.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1230A>C	CCDS41524.1																																																																																				0.542	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			8	768	0	0	0	1	0	8	768					G	51465226	T	G	51465226	2	3	31	1	0	0	0	0	0	0	0	1	373	1451	51	4		4	AGAP7	10	51465226	Silent	SNP	T	TCGA-3A-A9IO-01A-11D-A38G-08		51465226	84069521	37	3756											
ANK3	288	broad.mit.edu	37	chr10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T													cttacattcctgacttatgaINSttttttttacacctccttgt					rs28932171|rs370637835	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:61831289_61831290insT	ENST00000280772.2	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)atcfs	p.I3117fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGACTTATGATTTTTTTTACA	0.401																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9349-9351)catfs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831289_61831290insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9350dupA	10.37:g.61831297_61831297dupT	ENSP00000280772:p.Ile3117fs					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.H3117fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9540_9541	-			3117		I -> V (in dbSNP:rs28932171).			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.9349_9350insA	CCDS7258.1																																																																																				0.401	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	984						11	984	---	---	---	---	T	61831290	-	T	61831289	7	5	31	1	0	1	1	0	0	0	0	0	622	333	12	0	4124	0	ANK3	10	61831289	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08	10366063	61831289	73703458	38	3757											
CDH23	64072	broad.mit.edu	37	chr10	73377113	73377113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcacaggtcggctttgCccttccactcttcatccagg	10	15	2	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:73377113C>T	ENST00000224721.6	+	10	1117	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000299366.7_Missense_Mutation_p.A411V|CDH23_ENST00000398842.3_Missense_Mutation_p.A366V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCGGCTTTGCCCTTCCACTC	0.567																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1111-1113)gCc>gTc		cadherin-related 23							64	69	67					10																	73377113		2185	4280	6465	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73377113C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1112C>T	10.37:g.73377113C>T	ENSP00000224721:p.Ala371Val					CDH23_ENST00000299366.7_Missense_Mutation_p.A411V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000398842.3_Missense_Mutation_p.A366V	p.A371V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			10	1117	+			366			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1112C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.350184	0.95830	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59638	0.72;0.25	5.15	5.15	0.70609	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	N	0.21448	0.665	0.80722	D	1	P;D;D	0.71674	0.726;0.997;0.998	B;D;D	0.80764	0.343;0.953;0.994	T	0.57642	-0.7776	10	0.19590	T	0.45	.	18.8328	0.92148	0.0:1.0:0.0:0.0	.	366;366;366	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	V	373;366;366;366;366;371;371;283	ENSP00000381789:A366V;ENSP00000381822:A366V	ENSP00000224721:A373V	A	+	2	0	CDH23	73047119	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.216000	0.77974	2.677000	0.91161	0.563000	0.77884	GCC		0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		4	181	0	0	0	1	0	4	181					T	73377113	C	T	73377113	3	4	31	1	0	0	0	0	1	0	0	0	3117	739	26	2	1135	2	CDH23	10	73377113	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	11545824	73377113	62157634	39	3758											
VCL	7414	broad.mit.edu	37	chr10	75854102	75854102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagaacctgcagaccAaaaccaaccgggctgtggcc	10	16	0	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:75854102A>G	ENST00000211998.4	+	11	1520	c.1426A>G	c.(1426-1428)Aaa>Gaa	p.K476E	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.K476E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	476	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGCAGACCAAAACCAACCG	0.562																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1426-1428)Aaa>Gaa		vinculin							53	49	50					10																	75854102		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75854102A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1426A>G	10.37:g.75854102A>G	ENSP00000211998:p.Lys476Glu					VCL_ENST00000372755.3_Missense_Mutation_p.K476E|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	p.K476E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			11	1520	+	Prostate(51;0.0112)		476			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1426A>G	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193805	0.78902	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36340	1.26;1.26;1.26	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.69823	2.125	0.80722	D	1	D;D;D	0.63880	0.993;0.983;0.959	D;P;P	0.74023	0.982;0.822;0.755	T	0.53711	-0.8400	10	0.08381	T	0.77	.	15.7613	0.78082	1.0:0.0:0.0:0.0	.	403;476;476	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	476;476;383;403;148	ENSP00000361841:K476E;ENSP00000211998:K476E;ENSP00000415489:K148E	ENSP00000211998:K476E	K	+	1	0	VCL	75524108	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.126000	0.65437	0.529000	0.55759	AAA		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		12	152	0	0	0	1	0	12	152					G	75854102	A	G	75854102	3	3	31	1	0	0	0	0	1	0	0	0	17193	131	5	4	1468	4	VCL	10	75854102	Missense_Mutation	SNP	A	TCGA-3A-A9IO-01A-11D-A38G-08	2476989	75854102	59680645	40	3759											
TBC1D12	23232	broad.mit.edu	37	chr10	96281817	96281817	+	Frame_Shift_Del	DEL	T	T	-													ataagccatgccagttggccTtttttcgtgtggatcacagc							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:96281817delT	ENST00000225235.4	+	10	1977	c.1867delT	c.(1867-1869)tttfs	p.F624fs	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	624	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTTGGCCTTTTTTCGTGT	0.418																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1867-1869)ttfs		TBC1 domain family, member 12							173	155	161					10																	96281817		1920	4132	6052	SO:0001589	frameshift_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96281817delT	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1867delT	10.37:g.96281817delT	ENSP00000225235:p.Phe624fs					TBC1D12_ENST00000485048.1_Intron	p.F624fs	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			10	1977	+		Colorectal(252;0.0429)	624			Rab-GAP TBC.		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Frame_Shift_Del	DEL	ENST00000225235.4	37	c.1867delT	CCDS41553.1																																																																																				0.418	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			10	1078						10	1078	---	---	---	---	-	96281817	T	-	96281817	7	5	31	1	0	1	0	1	0	0	0	0	15653	1609	56	0	1905	0	TBC1D12	10	96281817	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	20427715	96281817	39252930	41	3760											
MKI67	4288	broad.mit.edu	37	chr10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-													gcttccaaaagggagattcaTtttttttgctattgtcaaga							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(697-699)atfs		marker of proliferation Ki-67							77	75	76					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913974delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs					MKI67_ENST00000368653.3_Intron	p.N233fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1073	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.698delA	CCDS7659.1																																																																																				0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	528						7	528	---	---	---	---	-	129913974	T	-	129913974	7	5	31	1	0	1	0	1	0	0	0	0	9639	1493	52	0	9108	0	MKI67	10	129913974	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	33632157	129913974	5620773	42	3761											
DENND5B	160518	broad.mit.edu	37	chr12	31545239	31545239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacattcttgtgaaagatgCgggcagatttgaacccatgg	12	7	1	5			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:31545239C>T	ENST00000389082.5	-	19	3692	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1178H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1178H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1143	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTGAAAGATGCGGGCAGATTT	0.453																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3427-3429)cGc>cAc		DENN/MADD domain containing 5B							59	57	58					12																	31545239		1876	4104	5980	SO:0001583	missense	160518					integral to membrane		g.chr12:31545239C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3428G>A	12.37:g.31545239C>T	ENSP00000373734:p.Arg1143His					DENND5B_ENST00000306833.6_Missense_Mutation_p.R1178H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1178H	p.R1143H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			19	3692	-			1143			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3428G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439505	0.83885	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.31510	1.49;1.49;1.49	4.49	3.6	0.41247	RUN (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.982;0.993	T	0.62120	-0.6921	10	0.87932	D	0	-31.5156	12.5019	0.55960	0.0:0.9186:0.0:0.0814	.	1143;1178	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	H	1143;1178;1178	ENSP00000373734:R1143H;ENSP00000306482:R1178H;ENSP00000444889:R1178H	ENSP00000306482:R1178H	R	-	2	0	DENND5B	31436506	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.452000	0.80683	1.233000	0.43693	0.561000	0.74099	CGC		0.453	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		4	204	0	0	0	1	0	4	204					T	31545239	C	T	31545239	3	4	31	1	0	0	0	0	1	0	0	0	4453	768	27	1	408	1	DENND5B	12	31545239	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08		31545239	102306656	43	3762											
MLL2	8085	broad.mit.edu	37	chr12	49440044	49440044	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagggatgttctcaccGttcacagtggcggcactgga	14	9	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr12:49440044G>A	ENST00000301067.7	-	16	4581	c.4582C>T	c.(4582-4584)Cgg>Tgg	p.R1528W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1528					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGTTCTCACCGTTCACAGTGG	0.547																																						ENST00000301067.7																			0											c.e16+1		lysine (K)-specific methyltransferase 2D							62	71	68					12																	49440044		2166	4276	6442	SO:0001630	splice_region_variant	8085							g.chr12:49440044G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4583+1C>T	12.37:g.49440044G>A							p.R1528_splice	NM_003482.3	NP_003473.3					16	4581	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.4583_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630341	0.28978	.	.	ENSG00000167548	ENST00000301067	T	0.64991	-0.13	5.22	4.3	0.51218	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35096	N	0.003457	T	0.79118	0.4392	M	0.82517	2.595	0.48696	D	0.999697	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	11.8112	0.52183	0.0:0.0:0.6812:0.3188	.	1528	O14686	MLL2_HUMAN	W	1528	ENSP00000301067:R1528W	ENSP00000301067:R1528W	R	-	1	2	MLL2	47726311	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.272000	0.51616	1.154000	0.42482	0.655000	0.94253	CGG		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	4	195	0	0	0	1	0	4	195					A	49440044	G	A	49440044	5	1	31	1	0	0	0	0	0	0	1	0	9662	1159	40	1	12187	1	MLL2	12	49440044	Splice_Site	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	17894805	49440044	84411851	44	3763											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-													gatgaaacatcttataaaggAaaaaaaataccgaaagacca					rs80359307|rs80359309		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30	32	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	428						7	428	---	---	---	---	-	32907421	A	-	32907421	7	5	31	1	0	1	0	1	0	0	0	0	1503	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-3A-A9IO-01A-11D-A38G-08		32907421	82262457	45	3764											
ESD	2098	broad.mit.edu	37	chr13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-													cccaaatatccactaaaggcTtttttgccccagggacagag							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102	103	102					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			9	860						9	860	---	---	---	---	-	47354112	T	-	47354112	7	5	31	1	0	1	0	1	0	0	0	0	5268	1606	56	0	302	0	ESD	13	47354112	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	14446691	47354112	67815766	46	3765											
LAMP1	3916	broad.mit.edu	37	chr13	113964154	113964154	+	Frame_Shift_Del	DEL	T	T	-													taacttgtcagacacacaccTtttccccaatgcgagctcca							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr13:113964154delT	ENST00000332556.4	+	3	574	c.380delT	c.(379-381)cttfs	p.L127fs	LAMP1_ENST00000397181.3_Frame_Shift_Del_p.L127fs	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	127	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACACACACCTTTTCCCCAAT	0.408																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(379-381)ctfs		lysosomal-associated membrane protein 1							155	145	148					13																	113964154		1906	4125	6031	SO:0001589	frameshift_variant	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113964154delT	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.380delT	13.37:g.113964154delT	ENSP00000333298:p.Leu127fs					LAMP1_ENST00000397181.3_Frame_Shift_Del_p.L127fs	p.L127fs	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	574	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	127			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Frame_Shift_Del	DEL	ENST00000332556.4	37	c.380delT	CCDS41909.1																																																																																				0.408	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			8	1052						8	1052	---	---	---	---	-	113964154	T	-	113964154	7	5	31	1	0	1	0	1	0	0	0	0	8648	1609	56	0	390	0	LAMP1	13	113964154	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	66610042	113964154	1205724	47	3766											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		9	527						9	527	---	---	---	---	T	39746243	-	T	39746242	7	5	31	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08		39746242	67603298	48	3767											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205286	104205286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtctaggagcagtgcCagggggttaaaccggactct	15	10	2	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr14:104205286C>T	ENST00000202556.9	-	13	2949	c.2667G>A	c.(2665-2667)ctG>ctA	p.L889L	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.L308L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	889					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGCAGTGCCAGGGGGTTAA	0.602																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2665-2667)ctG>ctA		protein phosphatase 1, regulatory subunit 13B							103	112	109					14																	104205286		2006	4184	6190	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205286C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2667G>A	14.37:g.104205286C>T						PPP1R13B_ENST00000423488.2_Silent_p.L308L|PPP1R13B_ENST00000555391.1_5'UTR	p.L889L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2949	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	889					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2667G>A	CCDS41997.1																																																																																				0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		9	565	0	0	0	1	0	9	565					T	104205286	C	T	104205286	2	4	31	1	0	0	0	0	0	0	0	1	12404	581	21	2		2	PPP1R13B	14	104205286	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	64459044	104205286	3144254	49	3768											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		6	348	0	0	0	1	0	6	348					C	72954797	T	C	72954797	3	2	31	1	0	0	0	0	1	0	0	0	6587	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-3A-A9IO-01A-11D-A38G-08		72954797	29576595	50	3769											
WHAMM	123720	broad.mit.edu	37	chr15	83478966	83478966	+	Frame_Shift_Del	DEL	C	C	-													ggccgacggctgcggcggcgCcacagtgcgcgacgcactct							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr15:83478966delC	ENST00000286760.4	+	1	587	c.488delC	c.(487-489)gccfs	p.A163fs		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	163	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TGCGGCGGCGCCACAGTGCGC	0.781																																						ENST00000286760.4																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(487-489)gcfs		WAS protein homolog associated with actin, golgi membranes and microtubules							1	1	1					15																	83478966		613	1430	2043	SO:0001589	frameshift_variant	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83478966delC	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.488delC	15.37:g.83478966delC	ENSP00000286760:p.Ala163fs						p.A163fs	NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN			1	587	+			163					Q8N1J9	Frame_Shift_Del	DEL	ENST00000286760.4	37	c.488delC	CCDS45333.1																																																																																				0.781	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			2	4						2	4	---	---	---	---	-	83478966	C	-	83478966	7	5	31	1	0	1	0	1	0	0	0	0	17415	739	26	0	490	0	WHAMM	15	83478966	Frame_Shift_Del	DEL	C	TCGA-3A-A9IO-01A-11D-A38G-08	10524169	83478966	19052426	51	3770											
CMTM1	113540	broad.mit.edu	37	chr16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T													tctggaaatctgcattgtcgINSttttttttattctaatatat							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		8	772						8	772	---	---	---	---	T	66603930	-	T	66603929	7	5	31	1	0	1	1	0	0	0	0	0	3591	1145	40	0	529	0	CMTM1	16	66603929	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08		66603929	23750824	52	3771											
ZNF778	197320	broad.mit.edu	37	chr16	89294760	89294760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtgcctcctctcacctGcataaacatggaagaattca	6	13	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr16:89294760G>A	ENST00000433976.2	+	6	2312	c.1980G>A	c.(1978-1980)ctG>ctA	p.L660L	ZNF778_ENST00000306502.6_Silent_p.L618L|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTCTCACCTGCATAAACATG	0.413																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1978-1980)ctG>ctA		zinc finger protein 778							50	54	53					16																	89294760		2175	4292	6467	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294760G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1980G>A	16.37:g.89294760G>A						ZNF778_ENST00000306502.6_Silent_p.L618L|RP11-46C24.6_ENST00000563182.1_RNA	p.L660L	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2312	+			660					Q08AG0	Silent	SNP	ENST00000433976.2	37	c.1980G>A	CCDS45550.1																																																																																				0.413	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	130	0	0	0	1	0	4	130					A	89294760	G	A	89294760	2	1	31	1	0	0	0	0	0	0	0	1	18204	1306	46	2		2	ZNF778	16	89294760	Silent	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	22690831	89294760	1059993	53	3772											
PRPF8	10594	broad.mit.edu	37	chr17	1556843	1556843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttactcacttgggccCgaaggtcagatatgcagatg	10	11	2	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:1556843C>T	ENST00000572621.1	-	38	6627	c.6362G>A	c.(6361-6363)cGg>cAg	p.R2121Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R2121Q|PRPF8_ENST00000575116.1_5'UTR			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2121	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACTTGGGCCCGAAGGTCAGA	0.463																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6361-6363)cGg>cAg		pre-mRNA processing factor 8							103	88	93					17																	1556843		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1556843C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6362G>A	17.37:g.1556843C>T	ENSP00000460348:p.Arg2121Gln					PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.R2121Q	p.R2121Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	38	6627	-			2121			MPN.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6362G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612941	0.96637	.	.	ENSG00000174231	ENST00000304992	T	0.63744	-0.06	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83107	-0.0125	10	0.36615	T	0.2	.	19.0085	0.92863	0.0:1.0:0.0:0.0	.	2121	Q6P2Q9	PRP8_HUMAN	Q	2121	ENSP00000304350:R2121Q	ENSP00000304350:R2121Q	R	-	2	0	PRPF8	1503593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.549000	0.82163	2.730000	0.93505	0.655000	0.94253	CGG		0.463	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	313	0	0	0	1	0	4	313					T	1556843	C	T	1556843	3	4	31	1	0	0	0	0	1	0	0	0	12622	652	23	1	665	1	PRPF8	17	1556843	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08		1556843	79638367	54	3773											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	653	0	0	0	1	0	6	653					C	16285560	T	C	16285560	2	2	31	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-3A-A9IO-01A-11D-A38G-08	14728717	16285560	64909650	55	3774											
CPD	1362	broad.mit.edu	37	chr17	28772820	28772820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatcaaagaaaggaaaAggggctagcagcagcaccaa	11	7	1	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:28772820A>G	ENST00000225719.4	+	12	2731	c.2655A>G	c.(2653-2655)aaA>aaG	p.K885K	CPD_ENST00000543464.2_Silent_p.K638K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	885	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAAAGGAAAAGGGGCTAGCA	0.413																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2653-2655)aaA>aaG		carboxypeptidase D							57	55	56					17																	28772820		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28772820A>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2655A>G	17.37:g.28772820A>G						CPD_ENST00000543464.2_Silent_p.K638K	p.K885K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			12	2731	+			885			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.2655A>G	CCDS11257.1																																																																																				0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		4	266	0	0	0	1	0	4	266					G	28772820	A	G	28772820	2	3	31	1	0	0	0	0	0	0	0	1	3807	69	3	4		4	CPD	17	28772820	Silent	SNP	A	TCGA-3A-A9IO-01A-11D-A38G-08	12487260	28772820	52422390	56	3775											
CDK12	51755	broad.mit.edu	37	chr17	37650878	37650878	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgtcagttaatccacCgaagtgttgttaacatgaag	8	9	1	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:37650878C>A	ENST00000447079.4	+	5	2383	c.2350C>A	c.(2350-2352)Cga>Aga	p.R784R	CDK12_ENST00000430627.2_Silent_p.R784R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	784	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTTAatccaccgaagtgttgt	0.403			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2350-2352)Cga>Aga		cyclin-dependent kinase 12							69	61	64					17																	37650878		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37650878C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2350C>A	17.37:g.37650878C>A		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Silent_p.R784R	p.R784R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2383	+			784			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.2350C>A	CCDS11337.1																																																																																				0.403	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		5	131	1	0	0.014758	1	0.0152499	5	131					A	37650878	C	A	37650878	2	1	31	1	0	0	0	0	0	0	0	1	3137	644	23	3		3	CDK12	17	37650878	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	8878058	37650878	43544332	57	3776											
CSF3	1440	broad.mit.edu	37	chr17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-													gagccaactccatagcggccTtttcctctaccaggggctcc							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:38172769delT	ENST00000225474.2	+	4	375	c.344delT	c.(343-345)cttfs	p.L115fs	CSF3_ENST00000331769.2_Frame_Shift_Del_p.L108fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CATAGCGGCCTTTTCCTCTAC	0.627																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(322-324)ctfs		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						97	107	104					17																	38172769		2203	4300	6503	SO:0001589	frameshift_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172769delT		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.344delT	17.37:g.38172769delT	ENSP00000225474:p.Leu115fs					CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs	p.L108fs			P09919	CSF3_HUMAN			3	539	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	115					A8MXR7	Frame_Shift_Del	DEL	ENST00000225474.2	37	c.323delT	CCDS11357.1																																																																																				0.627	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		9	894						9	894	---	---	---	---	-	38172769	T	-	38172769	7	5	31	1	0	1	0	1	0	0	0	0	3947	1609	56	0	358	0	CSF3	17	38172769	Frame_Shift_Del	DEL	T	TCGA-3A-A9IO-01A-11D-A38G-08	521891	38172769	43022441	58	3777											
XYLT2	64132	broad.mit.edu	37	chr17	48437468	48437468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcacacacagctcacagGccctgcgctcgaggcctgga	13	16	1	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:48437468G>A	ENST00000017003.2	+	11	2463	c.2414G>A	c.(2413-2415)gGc>gAc	p.G805D	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	805					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CAGCTCACAGGCCCTGCGCTC	0.657																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2413-2415)gGc>gAc		xylosyltransferase II							56	46	49					17																	48437468		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437468G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2414G>A	17.37:g.48437468G>A	ENSP00000017003:p.Gly805Asp					XYLT2_ENST00000507602.1_Intron	p.G805D	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2463	+	Breast(11;7.18e-19)		805					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2414G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845279	0.51164	.	.	ENSG00000015532	ENST00000017003	T	0.06687	3.27	4.99	4.99	0.66335	.	0.050322	0.85682	D	0.000000	T	0.22975	0.0555	M	0.69358	2.11	0.80722	D	1	P	0.51653	0.947	P	0.54431	0.752	T	0.00430	-1.1744	10	0.87932	D	0	-27.8691	18.4802	0.90808	0.0:0.0:1.0:0.0	.	805	Q9H1B5	XYLT2_HUMAN	D	805	ENSP00000017003:G805D	ENSP00000017003:G805D	G	+	2	0	XYLT2	45792467	1.000000	0.71417	0.216000	0.23742	0.021000	0.10359	7.462000	0.80851	2.586000	0.87340	0.655000	0.94253	GGC		0.657	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	155	0	0	0	1	0	5	155					A	48437468	G	A	48437468	3	1	31	1	0	0	0	0	1	0	0	0	17518	1203	42	2	2456	2	XYLT2	17	48437468	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	10264699	48437468	32757742	59	3778											
ITGB4	3691	broad.mit.edu	37	chr17	73750045	73750046	+	Frame_Shift_Ins	INS	-	-	C													cccgcagtgcgacacccgggINSccccccggaggtgacaggct							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:73750045_73750046insC	ENST00000200181.3	+	33	4495_4496	c.4308_4309insC	c.(4309-4311)cccfs	p.P1437fs	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000579662.1_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1437					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGACACCCGGGCCCCCCGGAGG	0.817																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4306-4311)ggccccfs		integrin, beta 4																																				SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73750045_73750046insC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4314dupC	17.37:g.73750051_73750051dupC	ENSP00000200181:p.Pro1437fs					ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron	p.GP1436fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4495_4496	+	all_cancers(13;1.5e-07)		1436					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Ins	INS	ENST00000200181.3	37	c.4308_4309insC	CCDS11727.1																																																																																				0.817	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			2	4						2	4	---	---	---	---	C	73750046	-	C	73750045	7	5	31	1	0	1	1	0	0	0	0	0	7927	1190	42	0	4434	0	ITGB4	17	73750045	Frame_Shift_Ins	INS	-	TCGA-3A-A9IO-01A-11D-A38G-08	25312577	73750045	7445165	60	3779											
SLC38A10	124565	broad.mit.edu	37	chr17	79219742	79219742	+	Frame_Shift_Del	DEL	C	C	-													gtgggacacaggcacatggtCccccccgcgggcctttctca							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr17:79219742delC	ENST00000374759.3	-	16	3357	c.2974delG	c.(2974-2976)gacfs	p.D992fs		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	992					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)			GGCACATGGTCCCCCCCGCGG	0.687																																						ENST00000374759.3																			0				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						c.(2974-2976)acfs		solute carrier family 38, member 10							28	33	31					17																	79219742		1917	4106	6023	SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219742delC	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.2974delG	17.37:g.79219742delC	ENSP00000363891:p.Asp992fs						p.D992fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3357	-	all_neural(118;0.0804)|Melanoma(429;0.242)		992					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.2974delG	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		7	336						7	336	---	---	---	---	-	79219742	C	-	79219742	7	5	31	1	0	1	0	1	0	0	0	0	14652	855	30	0	389	0	SLC38A10	17	79219742	Frame_Shift_Del	DEL	C	TCGA-3A-A9IO-01A-11D-A38G-08	5469697	79219742	1975468	61	3780											
IMPACT	55364	broad.mit.edu	37	chr18	22008866	22008866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaatacccaggtacagctCcacctatctaccagttgaag	7	12	1	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr18:22008866C>T	ENST00000284202.4	+	3	340	c.199C>T	c.(199-201)Cca>Tca	p.P67S	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	67	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGTACAGCTCCACCTATCTA	0.338																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(199-201)Cca>Tca		impact RWD domain protein							123	109	114					18																	22008866		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22008866C>T	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.199C>T	18.37:g.22008866C>T	ENSP00000284202:p.Pro67Ser						p.P67S	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			3	340	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		67			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.199C>T	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226131	0.39300	.	.	ENSG00000154059	ENST00000284202	T	0.26067	1.76	4.95	4.95	0.65309	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65565	-0.6137	10	0.66056	D	0.02	.	17.304	0.87190	0.0:1.0:0.0:0.0	.	67	Q9P2X3	IMPCT_HUMAN	S	67	ENSP00000284202:P67S	ENSP00000284202:P67S	P	+	1	0	IMPACT	20262864	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.856000	0.69518	2.434000	0.82447	0.561000	0.74099	CCA		0.338	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		5	273	0	0	0	1	0	5	273					T	22008866	C	T	22008866	3	4	31	1	0	0	0	0	1	0	0	0	7754	855	30	2	209	2	IMPACT	18	22008866	Missense_Mutation	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08		22008866	56068382	62	3781											
MUC16	94025	broad.mit.edu	37	chr19	9059381	9059381	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctttccttgtgaggggGgtagaaattctagtgatggt	14	4	2	3			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:9059381G>T	ENST00000397910.4	-	3	28268	c.28065C>A	c.(28063-28065)acC>acA	p.T9355T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9357	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)				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						TTGTGAGGGGGGTAGAAATTC	0.507																																						ENST00000397910.4																			0				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						c.(28063-28065)acC>acA		mucin 16, cell surface associated							154	151	152					19																	9059381		1929	4139	6068	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059381G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28065C>A	19.37:g.9059381G>T							p.T9355T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28268	-			9357			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28065C>A	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	405	1	0	2.66277e-13	1	2.91338e-13	42	405					T	9059381	G	T	9059381	2	4	31	1	0	0	0	0	0	0	0	1	10014	1219	43	3		3	MUC16	19	9059381	Silent	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08		9059381	50069602	63	3782											
CEACAM5	1048	broad.mit.edu	37	chr19	42225061	42225061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaacttggctactggccGcaataattccatagtcaaga	7	11	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr19:42225061G>A	ENST00000221992.6	+	8	2105	c.1991G>A	c.(1990-1992)cGc>cAc	p.R664H	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R664H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R663H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	664	Ig-like 7.		R -> S (in dbSNP:rs10423171).		homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTACTGGCCGCAATAATTCC	0.473																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1990-1992)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 5							128	110	116					19																	42225061		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42225061G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1991G>A	19.37:g.42225061G>A	ENSP00000221992:p.Arg664His					CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R663H|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R664H	p.R664H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	2105	+			664		R -> S (in dbSNP:rs10423171).	Ig-like 7.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1991G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826969	0.32329	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.12361	2.69;2.69	2.44	1.38	0.22167	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15998	0.0385	L	0.31207	0.915	0.09310	N	1	D;D	0.62365	0.991;0.989	P;P	0.56751	0.805;0.689	T	0.14476	-1.0471	9	0.39692	T	0.17	.	5.5128	0.16890	0.0:0.0:0.3651:0.6349	.	664;664	P06731;Q53G30	CEAM5_HUMAN;.	H	664;664;382	ENSP00000221992:R664H;ENSP00000385072:R664H	ENSP00000221992:R664H	R	+	2	0	CEACAM5	46916901	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.224000	0.17738	0.366000	0.24427	0.467000	0.42956	CGC		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		6	313	0	0	0	1	0	6	313					A	42225061	G	A	42225061	3	1	31	1	0	0	0	0	1	0	0	0	3204	1087	38	1	2021	1	CEACAM5	19	42225061	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	33165680	42225061	16903922	64	3783											
EDEM2	55741	broad.mit.edu	37	chr20	33722547	33722547	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagcgaacctaccagcccGatatctgaccggctctccca	8	17	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr20:33722547G>A	ENST00000374492.3	-	6	801	c.696C>T	c.(694-696)atC>atT	p.I232I	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Silent_p.I191I|EDEM2_ENST00000374491.3_Silent_p.I195I	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	232					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTACCAGCCCGATATCTGACC	0.562																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(571-573)atC>atT		ER degradation enhancer, mannosidase alpha-like 2							78	73	75					20																	33722547		2203	4300	6503	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722547G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.696C>T	20.37:g.33722547G>A						EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.I232I|EDEM2_ENST00000374491.2_Silent_p.I195I|EDEM2_ENST00000541621.1_5'UTR	p.I191I			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1294	-			232					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.573C>T	CCDS13247.1																																																																																				0.562	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		18	241	0	0	0	1	0	18	241					A	33722547	G	A	33722547	2	1	31	1	0	0	0	0	0	0	0	1	4928	1048	37	1		1	EDEM2	20	33722547	Silent	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08		33722547	29302973	65	3784											
SYNJ1	8867	broad.mit.edu	37	chr21	34003427	34003427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaggtcttcttgacgGcaacacacagaaggagacat	13	8	2	3			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:34003427G>A	ENST00000322229.7	-	31	4599	c.4600C>T	c.(4600-4602)Ccg>Tcg	p.P1534S	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1487S|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1573S			O43426	SYNJ1_HUMAN	synaptojanin 1	1534	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTCTTGACGGCAACACACAG	0.517																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4459-4461)Ccg>Tcg		synaptojanin 1							144	134	138					21																	34003427		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003427G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4600C>T	21.37:g.34003427G>A	ENSP00000322234:p.Pro1534Ser					SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1534S|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1573S	p.P1487S	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4583	-			1534			Poly-Glu.|Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.4459C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753208	0.69648	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	T;T;T	0.45668	0.89;0.89;0.89	5.88	4.98	0.66077	.	0.086304	0.49305	D	0.000148	T	0.47248	0.1435	L	0.59436	1.845	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.45542	-0.9254	10	0.37606	T	0.19	.	16.1711	0.81817	0.0:0.0:0.8657:0.1343	.	1534	O43426	SYNJ1_HUMAN	S	1487;1573;1534	ENSP00000371931:P1487S;ENSP00000409667:P1573S;ENSP00000322234:P1534S	ENSP00000322234:P1534S	P	-	1	0	SYNJ1	32925298	1.000000	0.71417	0.666000	0.29783	0.737000	0.42083	3.898000	0.56281	1.419000	0.47118	0.655000	0.94253	CCG		0.517	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	282	0	0	0	1	0	5	282					A	34003427	G	A	34003427	3	1	31	1	0	0	0	0	1	0	0	0	15504	1203	42	2	125	2	SYNJ1	21	34003427	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08		34003427	14126468	66	3785											
BRWD1	54014	broad.mit.edu	37	chr21	40578075	40578075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcacctttacaattttgCcgttgcttgaacctctggct	7	12	2	1			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:40578075C>T	ENST00000333229.2	-	37	4650	c.4323G>A	c.(4321-4323)cgG>cgA	p.R1441R	BRWD1_ENST00000342449.3_Silent_p.R1441R|BRWD1_ENST00000380800.3_Silent_p.R1441R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TACAATTTTGCCGTTGCTTGA	0.333																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)cgG>cgA		bromodomain and WD repeat domain containing 1							126	132	130					21																	40578075		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578075C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4323G>A	21.37:g.40578075C>T						BRWD1_ENST00000380800.3_Silent_p.R1441R|BRWD1_ENST00000333229.2_Silent_p.R1441R	p.R1441R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4401	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4323G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	3.068	-0.191810	0.06299	.	.	ENSG00000185658	ENST00000424441	.	.	.	4.87	-0.148	0.13424	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30387	-0.9980	4	.	.	.	-0.1605	10.6113	0.45423	0.0:0.4846:0.0:0.5154	.	.	.	.	T	379	.	.	A	-	1	0	BRWD1	39499945	0.027000	0.19231	0.359000	0.25824	0.641000	0.38312	0.013000	0.13310	-0.364000	0.08088	0.561000	0.74099	GCA		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	830	0	0	0	1	0	7	830					T	40578075	C	T	40578075	2	4	31	1	0	0	0	0	0	0	0	1	1529	726	26	2		2	BRWD1	21	40578075	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	6574648	40578075	7551820	67	3786											
TRPM2	7226	broad.mit.edu	37	chr21	45798964	45798964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgtcattgcccaggtgGccaacctgcctgtctcggac	11	16	2	0			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr21:45798964G>A	ENST00000397928.1	+	8	1544	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	TRPM2_ENST00000397932.2_Missense_Mutation_p.A367T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	367					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCCCAGGTGGCCAACCTGCC	0.597																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1099-1101)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							105	80	89					21																	45798964		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45798964G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1099G>A	21.37:g.45798964G>A	ENSP00000381023:p.Ala367Thr					TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A367T	p.A367T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			8	1544	+			367					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1099G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765205	0.31228	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.84	2.94	0.34122	.	0.128055	0.52532	D	0.000070	T	0.56381	0.1981	M	0.72118	2.19	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	P;P	0.62885	0.908;0.758	T	0.54111	-0.8342	10	0.22706	T	0.39	-29.9005	12.5864	0.56421	0.0:0.0:0.8325:0.1675	.	367;367	E9PGK7;O94759	.;TRPM2_HUMAN	T	367	ENSP00000300482:A367T;ENSP00000381023:A367T;ENSP00000300481:A367T;ENSP00000381026:A367T	ENSP00000300481:A367T	A	+	1	0	TRPM2	44623392	1.000000	0.71417	0.955000	0.39395	0.174000	0.22865	5.782000	0.68973	0.799000	0.34018	0.563000	0.77884	GCC		0.597	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	273	0	0	0	1	0	5	273					A	45798964	G	A	45798964	3	1	31	1	0	0	0	0	1	0	0	0	16639	1203	42	2	1129	2	TRPM2	21	45798964	Missense_Mutation	SNP	G	TCGA-3A-A9IO-01A-11D-A38G-08	5220889	45798964	2330931	68	3787											
PI4KA	5297	broad.mit.edu	37	chr22	21067590	21067590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcagtcgtctcccacCttgaagatggctgcctgcca	11	15	1	2	rs2539909		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr22:21067590C>T	ENST00000572273.1	-	48	5606	c.5376G>A	c.(5374-5376)aaG>aaA	p.K1792K	PI4KA_ENST00000414196.3_Silent_p.K602K|PI4KA_ENST00000255882.6_Silent_p.K1850K			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1792	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.|Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGTCTCCCACCTTGAAGATGG	0.662																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(5548-5550)aaG>aaA		phosphatidylinositol 4-kinase, catalytic, alpha							31	22	25					22																	21067590		2201	4295	6496	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21067590C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5376G>A	22.37:g.21067590C>T						PI4KA_ENST00000414196.3_Silent_p.K602K|PI4KA_ENST00000572273.1_Silent_p.K1792K	p.K1850K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		48	5636	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1792			PI3K/PI4K.		Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.5550G>A																																																																																					0.662	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	63	0	0	0	1	0	4	63					T	21067590	C	T	21067590	2	4	31	1	0	0	0	0	0	0	0	1	11915	680	24	2		2	PI4KA	22	21067590	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08		21067590	30236976	69	3788											
MYO18B	84700	broad.mit.edu	37	chr22	26219533	26219533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgaggccctgggctgCgagtatgaggagctgaacac	16	10	0	3	rs567970076		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chr22:26219533C>T	ENST00000407587.2	+	13	2752	c.2583C>T	c.(2581-2583)tgC>tgT	p.C861C	MYO18B_ENST00000335473.7_Silent_p.C861C|MYO18B_ENST00000536101.1_Silent_p.C861C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	861	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CCCTGGGCTGCGAGTATGAGG	0.582																																						ENST00000335473.7																			0				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						c.(2581-2583)tgC>tgT		myosin XVIIIB							121	122	122					22																	26219533		2078	4209	6287	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219533C>T	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.2583C>T	22.37:g.26219533C>T						MYO18B_ENST00000407587.2_Silent_p.C861C|MYO18B_ENST00000536101.1_Silent_p.C861C	p.C861C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2833	+			861			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2583C>T																																																																																					0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	455	0	0	0	1	0	6	455					T	26219533	C	T	26219533	2	4	31	1	0	0	0	0	0	0	0	1	10107	776	27	1		1	MYO18B	22	26219533	Silent	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	5151943	26219533	25085033	70	3789											
TSPYL2	64061	broad.mit.edu	37	chrX	53111759	53111761	+	In_Frame_Del	DEL	CCG	CCG	-													ctccacagcgcgacccgcccCcgccgccgccgccgccgccg					rs368501225		TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:53111759_53111761delCCG	ENST00000375442.4	+	1	211_213	c.79_81delCCG	c.(79-81)ccgdel	p.P33del		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	33	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CGACccgcccccgccgccgccgc	0.744																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(79-81)del		TSPY-like 2				12,437		3,5,1,191,50						-3.4	0			1	41,1228		10,13,8,497,221	no	coding	TSPYL2	NM_022117.3		13,18,9,688,271	A1A1,A1R,A1,RR,R		3.2309,2.6726,3.085				53,1665				SO:0001651	inframe_deletion	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53111759_53111761delCCG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.79_81delCCG	X.37:g.53111768_53111770delCCG	ENSP00000364591:p.Pro33del						p.P33del	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			1	211_213	+			33			Pro-rich.		O94799|Q96DG7|Q9BZW6	In_Frame_Del	DEL	ENST00000375442.4	37	c.79_81delCCG	CCDS14350.1																																																																																				0.744	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		2	4						2	4	---	---	---	---	-	53111761	CCG	-	53111759	7	5	31	1	0	1	0	1	0	0	0	0	16713	623	22	0	81	0	TSPYL2	23	53111759	In_Frame_Del	DEL	CCG	TCGA-3A-A9IO-01A-11D-A38G-08		53111759	102158801	71	3790											
FAM104B	90736	broad.mit.edu	37	chrX	55172596	55172596	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttgatatgggagtaaagaCcttggcatggtacatacccc	12	8	0	2			TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:55172596C>G	ENST00000358460.4	-	3	405				FAM104B_ENST00000425133.2_Missense_Mutation_p.G91A|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A|FAM104B_ENST00000477847.2_Missense_Mutation_p.G87A|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGAGTAAAGACCTTGGCATGG	0.483																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(271-273)gGt>gCt		family with sequence similarity 104, member B							91	76	81					X																	55172596		2203	4298	6501	SO:0001627	intron_variant	90736							g.chrX:55172596C>G	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+17G>C	X.37:g.55172596C>G						FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Missense_Mutation_p.G87A|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A	p.G91A	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	310	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.272G>C	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812822	0.50527	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	T;T;T	0.52295	0.67;0.67;0.67	1.6	1.6	0.23607	.	.	.	.	.	T	0.51941	0.1704	L	0.34521	1.04	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.30060	-0.9991	9	0.62326	D	0.03	.	6.0913	0.19995	0.0:1.0:0.0:0.0	.	91	Q5XKR9-3	.	A	91;87;89	ENSP00000397188:G91A;ENSP00000421161:G87A;ENSP00000423164:G89A	ENSP00000397188:G91A	G	-	2	0	FAM104B	55189321	1.000000	0.71417	0.092000	0.20876	0.386000	0.30323	2.344000	0.44010	1.084000	0.41184	0.436000	0.28706	GGT		0.483	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	153	0	0	0	1	0	4	153					G	55172596	C	G	55172596	1	3	31	0	1	0	0	0	0	0	0	0	5407	507	18	5		5	FAM104B	23	55172596	Intron	SNP	C	TCGA-3A-A9IO-01A-11D-A38G-08	2060837	55172596	100097964	72	3791											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-3A-A9IO-01A-11D-A38G-08	TCGA-3A-A9IO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f03781a-d0e8-412d-b9b4-cfe3a5200e63	15ef34ec-aff2-4c0d-a8cf-9d725d670cab	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		8	389						8	389	---	---	---	---	-	102004421	GAG	-	102004419	7	5	31	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-3A-A9IO-01A-11D-A38G-08	46831823	102004419	53266141	73	3792											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)			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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	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	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	291						11	291	---	---	---	---	-	6680071	GAA	-	6680069	7	5	32	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-3A-A9IR-01A-11D-A38G-08		6680069	242570552	1	3793											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	10	9	1	2	rs59802947	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		15	1053	0	0	0	1	0	15	1053					C	12887686	T	C	12887686	2	2	32	1	0	0	0	0	0	0	0	1	12474	1432	50	4		4	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-3A-A9IR-01A-11D-A38G-08	6207617	12887686	236362935	2	3794											
SNIP1	79753	broad.mit.edu	37	chr1	38003368	38003370	+	In_Frame_Del	DEL	TCC	TCC	-													gctagctgtcagacacttctTcctcctcctcctcatcctcg							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:38003368_38003370delTCC	ENST00000296215.6	-	4	1242_1244	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	390	Poly-Glu.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1168-1173)gaa>ga		Smad nuclear interacting protein 1																																				SO:0001651	inframe_deletion	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003368_38003370delTCC		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1170_1172delGGA	1.37:g.38003377_38003379delTCC	ENSP00000296215:p.Glu392del						p.EE390del	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1242_1244	-		Myeloproliferative disorder(586;0.0393)	390			Poly-Glu.		Q96SP9|Q9H9T7	In_Frame_Del	DEL	ENST00000296215.6	37	c.1170_1172delGGA	CCDS419.1																																																																																				0.448	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		9	600						9	600	---	---	---	---	-	38003370	TCC	-	38003368	7	5	32	1	0	1	0	1	0	0	0	0	14898	1783	62	0	22	0	SNIP1	1	38003368	In_Frame_Del	DEL	TCC	TCGA-3A-A9IR-01A-11D-A38G-08	25115682	38003368	211247253	3	3795											
NRD1	4898	broad.mit.edu	37	chr1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-													tgtatttagtatcttaccccAaaaaaattttcccataggat							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53	55	54					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	1104						7	1104	---	---	---	---	-	52290962	A	-	52290962	7	5	32	1	0	1	0	1	0	0	0	0	10687	130	5	0	2526	0	NRD1	1	52290962	Frame_Shift_Del	DEL	A	TCGA-3A-A9IR-01A-11D-A38G-08	14287594	52290962	196959659	4	3796											
DMRTB1	63948	broad.mit.edu	37	chr1	53930351	53930353	+	In_Frame_Del	DEL	GCC	GCC	-													ttccagccaagctactacctGccgccgccgccgccgccact					rs75818218|rs566504124|rs147307088|rs375544915	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:53930351_53930353delGCC	ENST00000371445.3	+	3	847_849	c.792_794delGCC	c.(790-795)ctgccg>ctg	p.P270del	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	270	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.67																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(790-795)ctg>ct		DMRT-like family B with proline-rich C-terminal, 1																																				SO:0001651	inframe_deletion	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930351_53930353delGCC	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.792_794delGCC	1.37:g.53930360_53930362delGCC	ENSP00000360500:p.Pro270del					DMRTB1_ENST00000463126.1_3'UTR	p.LP264del	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			3	847_849	+			264			Pro-rich.		Q96SD2	In_Frame_Del	DEL	ENST00000371445.3	37	c.792_794delGCC	CCDS581.1																																																																																				0.67	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			8	330						8	330	---	---	---	---	-	53930353	GCC	-	53930351	7	5	32	1	0	1	0	1	0	0	0	0	4606	1306	46	0	802	0	DMRTB1	1	53930351	In_Frame_Del	DEL	GCC	TCGA-3A-A9IR-01A-11D-A38G-08	1639389	53930351	195320270	5	3797											
SPRR3	6707	broad.mit.edu	37	chr1	152975691	152975691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaggtccctgagccaggCtgtaccaaggtccctgagcc	11	15	0	2	rs201771127		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:152975691C>T	ENST00000295367.4	+	2	237	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000331860.3_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(193-195)ggC>ggT		small proline-rich protein 3							51	45	47					1																	152975691		2203	4299	6502	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975691C>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.195C>T	1.37:g.152975691C>T						SPRR3_ENST00000295367.4_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	345	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65	Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).		14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.195C>T	CCDS1033.1																																																																																				0.557	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		5	204	0	0	0	1	0	5	204					T	152975691	C	T	152975691	2	4	32	1	0	0	0	0	0	0	0	1	15155	784	28	2		2	SPRR3	1	152975691	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	99045340	152975691	96274930	6	3798											
THBS3	7059	broad.mit.edu	37	chr1	155170284	155170284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggcatctccttccccatTgccatctgtgtccttctggt	7	15	3	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:155170284T>C	ENST00000368378.3	-	14	1686	c.1666A>G	c.(1666-1668)Aat>Gat	p.N556D	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	556					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCCCCATTGCCATCTGTG	0.547																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1666-1668)Aat>Gat		thrombospondin 3							256	225	236					1																	155170284		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170284T>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1666A>G	1.37:g.155170284T>C	ENSP00000357362:p.Asn556Asp					RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron	p.N556D	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		14	1686	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		556					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1666A>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	7.447	0.641950	0.14451	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.95482	-3.72;-3.72;-3.72	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.18871	0.023;0.006;0.009;0.006	T	0.73097	-0.4090	10	0.02654	T	1	-25.899	13.2277	0.59924	0.0:0.0:0.0:1.0	.	436;556;556;556	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	556;436;85	ENSP00000357362:N556D;ENSP00000392207:N436D;ENSP00000437353:N85D	ENSP00000357362:N556D	N	-	1	0	THBS3	153436908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.681000	0.46926	2.281000	0.76405	0.533000	0.62120	AAT		0.547	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		236	269	0	0	0	1	0	236	269					C	155170284	T	C	155170284	3	2	32	1	0	0	0	0	1	0	0	0	15907	1812	63	4	1244	4	THBS3	1	155170284	Missense_Mutation	SNP	T	TCGA-3A-A9IR-01A-11D-A38G-08	2194593	155170284	94080337	7	3799											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	445	0	0	0	1	0	6	445					T	204170871	C	T	204170871	2	4	32	1	0	0	0	0	0	0	0	1	6599	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	49000587	204170871	45079750	8	3800											
TLR5	7100	broad.mit.edu	37	chr1	223284937	223284937	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcaacatattttctccaagGaaaagctgttctaagctggg	9	8	2	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:223284937G>C	ENST00000540964.1	-	4	1898	c.1437C>G	c.(1435-1437)ttC>ttG	p.F479L	TLR5_ENST00000342210.6_Missense_Mutation_p.F479L			O60602	TLR5_HUMAN	toll-like receptor 5	479			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTCTCCAAGGAAAAGCTGTT	0.413																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1435-1437)ttC>ttG		toll-like receptor 5							73	75	74					1																	223284937		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284937G>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1437C>G	1.37:g.223284937G>C	ENSP00000440643:p.Phe479Leu					TLR5_ENST00000342210.6_Missense_Mutation_p.F479L	p.F479L			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1898	-			479		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1437C>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488957	0.26686	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23552	1.9;1.9;1.9	5.49	3.4	0.38934	.	0.154028	0.53938	D	0.000046	T	0.25606	0.0623	M	0.68317	2.08	0.28839	N	0.896695	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.44086	T	0.13	.	8.8258	0.35054	0.3007:0.0:0.6993:0.0	.	479	O60602	TLR5_HUMAN	L	479	ENSP00000440643:F479L;ENSP00000355846:F479L;ENSP00000340089:F479L	ENSP00000340089:F479L	F	-	3	2	TLR5	221351560	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.463000	0.45058	1.320000	0.45209	0.650000	0.86243	TTC		0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		219	253	0	0	0	1	0	219	253					C	223284937	G	C	223284937	3	2	32	1	0	0	0	0	1	0	0	0	16006	1165	41	5	1143	5	TLR5	1	223284937	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	19114066	223284937	25965684	9	3801											
KMO	23596	broad.mit.edu	37	chr1	241753558	241753558	+	IGR	DEL	A	A	-													tgtgcagcgttggcattggcAaaaaaaggttggaacagtta							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:241753558delA	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366559.4_Frame_Shift_Del_p.Q418fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGCATTGGCAAAAAAAGGTT	0.313																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1252-1254)cafs		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							95	98	97					1																	241753558		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753558delA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753558delA						KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs	p.Q418fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1564	+	Ovarian(103;0.103)|all_lung(81;0.23)		418					Q8IX08|Q9Y344	Frame_Shift_Del	DEL	ENST00000366554.2	37	c.1253delA	CCDS31072.1																																																																																				0.313	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		7	705						7	705	---	---	---	---	-	241753558	A	-	241753558	6	5	32	0	1	1	0	1	0	0	0	0	8454	130	5	0		0	KMO	1	241753558	IGR	DEL	A	TCGA-3A-A9IR-01A-11D-A38G-08	18468621	241753558	7497063	10	3802											
SPTBN1	6711	broad.mit.edu	37	chr2	54887113	54887113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttcccaaaacggtttgCcagctgaacagggatctcca	9	11	1	1	rs369581553		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:54887113C>T	ENST00000356805.4	+	32	6678	c.6397C>T	c.(6397-6399)Cca>Tca	p.P2133S	AC093110.3_ENST00000456363.1_RNA|SPTBN1_ENST00000333896.5_Missense_Mutation_p.P2120S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2133					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAACGGTTTGCCAGCTGAACA	0.473																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6358-6360)Cca>Tca		spectrin, beta, non-erythrocytic 1		C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	71	64	67		6397,6358	5.8	1	2		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTBN1	NM_003128.2,NM_178313.2	74,74	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	2133/2365,2120/2156	54887113	2,13004	2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54887113C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6397C>T	2.37:g.54887113C>T	ENSP00000349259:p.Pro2133Ser					SPTBN1_ENST00000356805.4_Missense_Mutation_p.P2133S	p.P2120S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		31	6743	+			2133					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6358C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003472	0.54254	2.27E-4	1.16E-4	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.69175	-0.38;-0.28	5.76	5.76	0.90799	.	0.124466	0.56097	D	0.000037	T	0.51024	0.1650	N	0.19112	0.55	0.49389	D	0.999785	P;B;B;B	0.42203	0.773;0.009;0.001;0.001	B;B;B;B	0.34093	0.175;0.006;0.002;0.003	T	0.50642	-0.8804	10	0.23891	T	0.37	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	123;2133;2120;2133	B4DIF8;Q01082-2;Q01082-3;Q01082	.;.;.;SPTB2_HUMAN	S	2133;2120	ENSP00000349259:P2133S;ENSP00000334156:P2120S	ENSP00000334156:P2120S	P	+	1	0	SPTBN1	54740617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.769000	0.62300	2.713000	0.92767	0.655000	0.94253	CCA		0.473	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	219	0	0	0	1	0	4	219					T	54887113	C	T	54887113	3	4	32	1	0	0	0	0	1	0	0	0	15171	739	26	2	6632	2	SPTBN1	2	54887113	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08		54887113	188312260	11	3803											
TTN	7273	broad.mit.edu	37	chr2	179517014	179517014	+	Frame_Shift_Del	DEL	T	T	-													ttgtgggtggcacttcaggcTttttaggaggaggcactggc							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:179517014delT	ENST00000591111.1	-	158	34891	c.34667delA	c.(34666-34668)aagfs	p.K11556fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.K13063fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10629fs|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11528	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCAGGCTTTTTAGGAGG	0.378																																						ENST00000589042.1																			0				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						c.(39187-39189)agfs		titin							172	169	170					2																	179517014		1817	4080	5897	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179517014delT	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.34667delA	2.37:g.179517014delT	ENSP00000465570:p.Lys11556fs					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11556fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10629fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.K13063fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		203	39412	-			11414					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.39188delA																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	1631						7	1631	---	---	---	---	-	179517014	T	-	179517014	7	5	32	1	0	1	0	1	0	0	0	0	16789	1609	56	0	68723	0	TTN	2	179517014	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08	124629901	179517014	63682359	12	3804											
FZD7	8324	broad.mit.edu	37	chr2	202900538	202900538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcgtgggccgtgcccGccgtcaagaccatcactatc	12	16	2	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr2:202900538G>A	ENST00000286201.1	+	1	1229	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	390					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A390T(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCCGTGCCCGCCGTCAAGAC	0.667											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			1	Substitution - Missense(1)	p.A390T(1)	ovary(1)	breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1168-1170)Gcc>Acc		frizzled family receptor 7							45	50	49					2																	202900538		2203	4299	6502	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900538G>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1168G>A	2.37:g.202900538G>A	ENSP00000286201:p.Ala390Thr		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A390T	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1229	+			390					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1168G>A	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504401	0.85176	.	.	ENSG00000155760	ENST00000286201	D	0.82433	-1.61	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90349	0.4365	10	0.39692	T	0.17	.	19.4726	0.94969	0.0:0.0:1.0:0.0	.	390	O75084	FZD7_HUMAN	T	390	ENSP00000286201:A390T	ENSP00000286201:A390T	A	+	1	0	FZD7	202608783	1.000000	0.71417	0.953000	0.39169	0.913000	0.54294	9.862000	0.99564	2.618000	0.88619	0.561000	0.74099	GCC		0.667	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		4	294	0	0	0	1	0	4	294					A	202900538	G	A	202900538	3	1	32	1	0	0	0	0	1	0	0	0	6162	1087	38	1	1170	1	FZD7	2	202900538	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	23383524	202900538	40298835	13	3805											
FAM116A	201627	broad.mit.edu	37	chr3	57627438	57627438	+	Frame_Shift_Del	DEL	A	A	-													cagtgctggagtgtcttagcAaaaaaagggttggttactcc					rs34959359		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:57627438delA	ENST00000311128.5	-	12	1144	c.1074delT	c.(1072-1074)tttfs	p.F358fs	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	358					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GTGTCTTAGCAAAAAAAGGGT	0.353																																						ENST00000311128.5																			0											c.(1072-1074)ttfs		DENN/MADD domain containing 6A							130	129	130					3																	57627438		2203	4300	6503	SO:0001589	frameshift_variant	201627							g.chr3:57627438delA	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1074delT	3.37:g.57627438delA	ENSP00000311401:p.Phe358fs					RP11-755B10.2_ENST00000470427.1_RNA	p.F358fs	NM_152678.2	NP_689891.1					12	1144	-								Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Del	DEL	ENST00000311128.5	37	c.1074delT	CCDS33773.1																																																																																				0.353	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		8	445						8	445	---	---	---	---	-	57627438	A	-	57627438	7	5	32	1	0	1	0	1	0	0	0	0	5428	127	5	0	788	0	FAM116A	3	57627438	Frame_Shift_Del	DEL	A	TCGA-3A-A9IR-01A-11D-A38G-08		57627438	140394992	14	3806											
SLMAP	7871	broad.mit.edu	37	chr3	57898112	57898112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatatacttttgcagcccaAttgcagaggttacacatcga	9	9	0	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:57898112A>G	ENST00000428312.1	+	18	1747	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000495364.1_Silent_p.Q85Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000295951.3_Silent_p.Q534Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	551					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TTGCAGCCCAATTGCAGAGGT	0.408																																						ENST00000295951.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1600-1602)caA>caG		sarcolemma associated protein							70	73	72					3																	57898112		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57898112A>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1653A>G	3.37:g.57898112A>G						SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000428312.1_Silent_p.Q551Q|SLMAP_ENST00000495364.1_Silent_p.Q85Q	p.Q534Q			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	18	2819	+			551					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.1602A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.715|3.715	-0.058842|-0.058842	0.07317|0.07317	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.09|5.09	-6.98|-6.98	0.01611|0.01611	.|.	.|.	.|.	.|.	.|.	T|T	0.65460|0.65460	0.2693|0.2693	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69266|0.69266	-0.5190|-0.5190	4|4	.|.	.|.	.|.	-10.0023|-10.0023	17.6214|17.6214	0.88083|0.88083	0.3198:0.0:0.6802:0.0|0.3198:0.0:0.6802:0.0	.|.	.|.	.|.	.|.	V|S	159;89|135	.|.	.|.	I|N	+|+	1|2	0|0	SLMAP|SLMAP	57873152|57873152	0.299000|0.299000	0.24426|0.24426	0.803000|0.803000	0.32268|0.32268	0.563000|0.563000	0.35712|0.35712	-0.154000|-0.154000	0.10130|0.10130	-1.299000|-1.299000	0.02344|0.02344	-1.194000|-1.194000	0.01681|0.01681	ATT|AAT		0.408	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		11	209	0	0	0	1	0	11	209					G	57898112	A	G	57898112	2	3	32	1	0	0	0	0	0	0	0	1	14799	98	4	4		4	SLMAP	3	57898112	Silent	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08	270674	57898112	140124318	15	3807											
GPR27	2850	broad.mit.edu	37	chr3	71803791	71803791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggtggtgggcgccacGcacctcgtctacctccgcct	13	17	1	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:71803791G>A	ENST00000304411.2	+	1	591	c.591G>A	c.(589-591)acG>acA	p.T197T	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_Intron	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	197					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(589-591)acG>acA		G protein-coupled receptor 27							4	5	4					3																	71803791		1449	2852	4301	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71803791G>A	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.591G>A	3.37:g.71803791G>A						EIF4E3_ENST00000421769.2_Intron	p.T197T	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	591	+		Prostate(10;0.00899)	197						Silent	SNP	ENST00000304411.2	37	c.591G>A	CCDS2915.1																																																																																				0.746	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		3	23	0	0	0	1	0	3	23					A	71803791	G	A	71803791	2	1	32	1	0	0	0	0	0	0	0	1	6714	1074	38	1		1	GPR27	3	71803791	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	13905679	71803791	126218639	16	3808											
STXBP5L	9515	broad.mit.edu	37	chr3	121126282	121126282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcatcagtatacaaTaatctgctcagaaaaacaag	7	7	4	2			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:121126282T>C	ENST00000273666.6	+	24	3123	c.2852T>C	c.(2851-2853)aTa>aCa	p.I951T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGTATACAATAATCTGCTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2851-2853)aTa>aCa		syntaxin binding protein 5-like							127	122	123					3																	121126282		1892	4118	6010	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126282T>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2852T>C	3.37:g.121126282T>C	ENSP00000273666:p.Ile951Thr					STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T	p.I951T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3123	+			951					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2852T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175675	0.57692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.55052	0.54;0.54;1.96;1.96;1.96;0.54	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.116455	0.64402	D	0.000018	T	0.47395	0.1443	L	0.39898	1.24	0.48901	D	0.999726	P;P	0.37781	0.608;0.608	B;B	0.37601	0.171;0.254	T	0.53725	-0.8398	10	0.87932	D	0	-16.4474	15.5893	0.76512	0.0:0.0:0.0:1.0	.	927;951	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	951;927;927;925;951;894	ENSP00000273666:I951T;ENSP00000420019:I927T;ENSP00000419627:I927T;ENSP00000420287:I925T;ENSP00000420666:I951T;ENSP00000420167:I894T	ENSP00000273666:I951T	I	+	2	0	STXBP5L	122608972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.149000	0.67028	0.528000	0.53228	ATA		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			223	225	0	0	0	1	0	223	225					C	121126282	T	C	121126282	3	2	32	1	0	0	0	0	1	0	0	0	15409	1406	49	4	2942	4	STXBP5L	3	121126282	Missense_Mutation	SNP	T	TCGA-3A-A9IR-01A-11D-A38G-08	49322491	121126282	76896148	17	3809											
UGT2B11	10720	broad.mit.edu	37	chr4	70074189	70074189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagagctctgtacaaaCtcctccatttcctgtgaaaa	5	13	2	2			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:70074189C>T	ENST00000446444.1	-	3	890	c.882G>A	c.(880-882)gaG>gaA	p.E294E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	294					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTACAAACTCCTCCATTT	0.398																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(880-882)gaG>gaA		UDP glucuronosyltransferase 2 family, polypeptide B11							119	123	122					4																	70074189		2203	4293	6496	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074189C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.882G>A	4.37:g.70074189C>T						RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.E294E	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			3	890	-			294					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.882G>A	CCDS3527.1																																																																																				0.398	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		11	1228	0	0	0	1	0	11	1228					T	70074189	C	T	70074189	2	4	32	1	0	0	0	0	0	0	0	1	17011	564	20	2		2	UGT2B11	4	70074189	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08		70074189	121080087	18	3810											
MMRN1	22915	broad.mit.edu	37	chr4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-													tgttggcagaggagtagctgAgcagcagcagcagcaaggct							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_ENST00000508372.1_In_Frame_Del_p.Q55del|MMRN1_ENST00000264790.2_In_Frame_Del_p.Q313del|MMRN1_ENST00000394981.1_In_Frame_Del_p.Q279del			Q13201	MMRN1_HUMAN	multimerin 1	313	Poly-Gln.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(922-927)gag>g		multimerin 1																																				SO:0001651	inframe_deletion	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844391_90844393delAGC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.923_925delAGC	4.37:g.90844400_90844402delAGC	ENSP00000378431:p.Gln313del					MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del	p.EQ308del			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	1242_1244	+		Hepatocellular(203;0.114)	308					Q4W5L1|Q6P3T8|Q6ZUL9	In_Frame_Del	DEL	ENST00000394980.1	37	c.923_925delAGC	CCDS3635.1																																																																																				0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	1189						8	1189	---	---	---	---	-	90844393	AGC	-	90844391	7	5	32	1	0	1	0	1	0	0	0	0	9711	304	11	0	937	0	MMRN1	4	90844391	In_Frame_Del	DEL	AGC	TCGA-3A-A9IR-01A-11D-A38G-08	20770202	90844391	100309885	19	3811											
MOCS2	4338	broad.mit.edu	37	chr5	52397308	52397308	+	Frame_Shift_Del	DEL	T	T	-													tcatattctaagctaatgacTtttttcccttcaaagttatt							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:52397308delT	ENST00000396954.3	-	5	935	c.258delA	c.(256-258)aaafs	p.K86fs	MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AGCTAATGACTTTTTTCCCTT	0.318																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(256-258)aafs		molybdenum cofactor synthesis 2							194	200	198					5																	52397308		2203	4300	6503	SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52397308delT	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.258delA	5.37:g.52397308delT	ENSP00000380157:p.Lys86fs					MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR	p.K86fs	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			5	935	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Frame_Shift_Del	DEL	ENST00000396954.3	37	c.258delA	CCDS3958.1																																																																																				0.318	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		8	1820						8	1820	---	---	---	---	-	52397308	T	-	52397308	7	5	32	1	0	1	0	1	0	0	0	0	9732	1606	56	0	320	0	MOCS2	5	52397308	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08		52397308	128517952	20	3812											
DMXL1	1657	broad.mit.edu	37	chr5	118513060	118513060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcttagttcatttcAgacgaatcagtttactggaa	6	7	4	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:118513060A>G	ENST00000311085.8	+	27	6847	c.6767A>G	c.(6766-6768)cAg>cGg	p.Q2256R	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2256										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)		AGTTCATTTCAGACGAATCAG	0.299																																						ENST00000311085.8																			0				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						c.(6766-6768)cAg>cGg		Dmx-like 1							51	47	48					5																	118513060		2201	4299	6500	SO:0001583	missense	1657							g.chr5:118513060A>G	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.6767A>G	5.37:g.118513060A>G	ENSP00000309690:p.Gln2256Arg					DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R	p.Q2256R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	27	6847	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2256						Missense_Mutation	SNP	ENST00000311085.8	37	c.6767A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917013	0.33815	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10573	2.86;2.86	5.96	5.96	0.96718	.	0.090364	0.85682	D	0.000000	T	0.11580	0.0282	L	0.58101	1.795	0.47621	D	0.999475	P;B	0.45126	0.851;0.394	B;B	0.33454	0.164;0.079	T	0.02301	-1.1180	10	0.62326	D	0.03	-6.2321	13.4635	0.61241	0.87:0.13:0.0:0.0	.	2256;2256	F5H269;Q9Y485	.;DMXL1_HUMAN	R	2256	ENSP00000309690:Q2256R;ENSP00000439479:Q2256R	ENSP00000309690:Q2256R	Q	+	2	0	DMXL1	118540959	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.694000	0.68272	2.285000	0.76669	0.533000	0.62120	CAG		0.299	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		6	197	0	0	0	1	0	6	197					G	118513060	A	G	118513060	3	3	32	1	0	0	0	0	1	0	0	0	4610	188	7	4	6873	4	DMXL1	5	118513060	Missense_Mutation	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08	66115752	118513060	62402200	21	3813											
PCDHA6	56142	broad.mit.edu	37	chr5	140208566	140208566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaccactttagcatagatcGaaatacgggagaaatagtga	10	6	0	4			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:140208566G>A	ENST00000529310.1	+	1	1004	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATAGATCGAAATACGGGA	0.418																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(889-891)cGa>cAa									85	88	87					5																	140208566		2203	4300	6503	SO:0001583	missense	0							g.chr5:140208566G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.890G>A	5.37:g.140208566G>A	ENSP00000433378:p.Arg297Gln					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.R297Q	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1004	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.890G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444875	0.04604	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.51325	0.71;0.71	3.7	-1.17	0.09648	Cadherin (4);Cadherin-like (1);	1.944250	0.03754	U	0.256999	T	0.30479	0.0766	N	0.12746	0.255	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.007	B;B;B	0.15870	0.0;0.014;0.004	T	0.31081	-0.9956	10	0.51188	T	0.08	.	7.6233	0.28197	0.2589:0.405:0.3362:0.0	.	297;297;297	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Q	297	ENSP00000433378:R297Q;ENSP00000434113:R297Q	ENSP00000434113:R297Q	R	+	2	0	PCDHA6	140188750	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-0.330000	0.07925	-0.018000	0.14079	-0.802000	0.03209	CGA		0.418	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		289	327	0	0	0	1	0	289	327					A	140208566	G	A	140208566	3	1	32	1	0	0	0	0	1	0	0	0	11570	1058	37	1	892	1	PCDHA6	5	140208566	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	21695506	140208566	40706694	22	3814											
NSD1	64324	broad.mit.edu	37	chr5	176710903	176710903	+	Frame_Shift_Del	DEL	T	T	-													tggagatacccgtgtaggccTttttgcactaagtgacatta							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:176710903delT	ENST00000439151.2	+	20	6170	c.6125delT	c.(6124-6126)cttfs	p.L2042fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2042	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTGTAGGCCTTTTTGCACTA	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6124-6126)ctfs		nuclear receptor binding SET domain protein 1							162	158	159					5																	176710903		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710903delT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6125delT	5.37:g.176710903delT	ENSP00000395929:p.Leu2042fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs	p.L2042fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6170	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2042			SET.		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.6125delT	CCDS4412.1																																																																																				0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		7	1077						7	1077	---	---	---	---	-	176710903	T	-	176710903	7	5	32	1	0	1	0	1	0	0	0	0	10711	1609	56	0	6199	0	NSD1	5	176710903	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08	36502337	176710903	4204357	23	3815											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	713						7	713	---	---	---	---	-	88144700	A	-	88144700	7	5	32	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-3A-A9IR-01A-11D-A38G-08		88144700	82970367	24	3816											
LAMA2	3908	broad.mit.edu	37	chr6	129813459	129813459	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttattacattctattaGccccatggactttgcaaggc	6	9	1	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:129813459G>A	ENST00000421865.2	+	58	8124		c.e58-1		LAMA2_ENST00000498257.1_Splice_Site	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATTCTATTAGCCCCATGGAC	0.413																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e58-1		laminin, alpha 2							75	78	77					6																	129813459		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129813459G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8076-1G>A	6.37:g.129813459G>A						LAMA2_ENST00000498257.1_Splice_Site		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	58	8124	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186430	0.57909	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129855152	1.000000	0.71417	0.989000	0.46669	0.668000	0.39293	6.417000	0.73337	2.650000	0.89964	0.563000	0.77884	.		0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	12	665	0	0	0	1	0	12	665					A	129813459	G	A	129813459	5	1	32	1	0	0	0	0	0	0	1	0	8637	985	34	2	8305	2	LAMA2	6	129813459	Splice_Site	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	41668759	129813459	41301608	25	3817											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		9	964						9	964	---	---	---	---	T	129959603	-	T	129959602	7	5	32	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-3A-A9IR-01A-11D-A38G-08	146143	129959602	41155465	26	3818											
FNDC1	84624	broad.mit.edu	37	chr6	159688923	159688923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatggaagaacagggcCtcagtcctatgtagaagccc	11	11	1	3			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:159688923C>A	ENST00000297267.9	+	22	5734	c.5534C>A	c.(5533-5535)cCt>cAt	p.P1845H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1782H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1845					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAACAGGGCCTCAGTCCTAT	0.448																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5533-5535)cCt>cAt		fibronectin type III domain containing 1							103	98	100					6																	159688923		1929	4136	6065	SO:0001583	missense	84624					extracellular region		g.chr6:159688923C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5534C>A	6.37:g.159688923C>A	ENSP00000297267:p.Pro1845His					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1782H	p.P1845H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	22	5734	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1845					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5534C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087615	0.94100	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.45668	0.89;0.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37009	-0.9724	9	.	.	.	-19.5385	19.5709	0.95419	0.0:1.0:0.0:0.0	.	1845	Q4ZHG4	FNDC1_HUMAN	H	1845;1782	ENSP00000297267:P1845H;ENSP00000342460:P1782H	.	P	+	2	0	FNDC1	159608913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.620000	0.88729	0.491000	0.48974	CCT		0.448	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	117	1	0	2.56e-06	1	2.656e-06	4	117					A	159688923	C	A	159688923	3	1	32	1	0	0	0	0	1	0	0	0	5993	681	24	3	5620	3	FNDC1	6	159688923	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	29729321	159688923	11426144	27	3819											
BZW2	28969	broad.mit.edu	37	chr7	16722403	16722403	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggttgttttttttttAggtcttcaataaactcatca	5	5	4	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:16722403A>T	ENST00000433922.2	+	5	517		c.e5-1		BZW2_ENST00000452975.2_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|BZW2_ENST00000405202.1_Splice_Site|BZW2_ENST00000432311.1_Splice_Site	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.?(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTTTTTTTTTAGGTCTTCAAT	0.274																																						ENST00000433922.2																			1	Unknown(1)	p.?(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.e5-1		basic leucine zipper and W2 domains 2							40	45	43					7																	16722403		2197	4294	6491	SO:0001630	splice_region_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16722403A>T	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.340-1A>T	7.37:g.16722403A>T						BZW2_ENST00000452975.2_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|BZW2_ENST00000405202.1_Splice_Site		NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	5	517	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)							A4D123|Q3B779|Q96JW5|Q9H3F7	Splice_Site	SNP	ENST00000433922.2	37		CCDS5362.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107216	0.77096	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6402	0.76993	1.0:0.0:0.0:0.0	rs59826374	.	.	.	.	-1	.	.	.	+	.	.	BZW2	16688928	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.207000	0.95064	2.107000	0.64212	0.528000	0.53228	.		0.274	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038	Intron	5	243	0	0	0	1	0	5	243					T	16722403	A	T	16722403	5	4	32	1	0	0	0	0	0	0	1	0	1583	434	15	5	352	5	BZW2	7	16722403	Splice_Site	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08		16722403	142416260	28	3820											
GLI3	2737	broad.mit.edu	37	chr7	42005281	42005281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggcagcccgggcgcGtcaaagtcaccgggcccgtg	15	15	3	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:42005281G>A	ENST00000395925.3	-	15	3474	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1130					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCGGGCGCGTCAAAGTCAC	0.642									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3388-3390)gaC>gaT		GLI family zinc finger 3							56	63	60					7																	42005281		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005281G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3390C>T	7.37:g.42005281G>A						GLI3_ENST00000479210.1_5'UTR	p.D1130D	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3474	-			1130					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3390C>T	CCDS5465.1																																																																																				0.642	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		160	295	0	0	0	1	0	160	295					A	42005281	G	A	42005281	2	1	32	1	0	0	0	0	0	0	0	1	6468	1136	40	1		1	GLI3	7	42005281	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	25282878	42005281	117133382	29	3821											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-													ccgccggcgttgcggcggagGctgctgctgctgctgctggt					rs548021046	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	7						4	7	---	---	---	---	-	97736521	GCT	-	97736519	7	5	32	1	0	1	0	1	0	0	0	0	8892	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-3A-A9IR-01A-11D-A38G-08	55731238	97736519	61402144	30	3822											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1011						7	1011	---	---	---	---	-	105440214	T	-	105440214	7	5	32	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08		105440214	40923808	31	3823											
OXR1	55074	broad.mit.edu	37	chr8	107704955	107704955	+	Splice_Site	DEL	G	G	-													tcctttaaaaaaaaaaaaaaGaatcctgatgtccatccaac							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34	37	36					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	11	327						11	327	---	---	---	---	-	107704955	G	-	107704955	8	5	32	1	0	1	0	1	0	0	1	0	11376	956	33	0	750	0	OXR1	8	107704955	Splice_Site	DEL	G	TCGA-3A-A9IR-01A-11D-A38G-08	2264741	107704955	38659067	32	3824											
GPT	2875	broad.mit.edu	37	chr8	145732324	145732324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccttggagaaactgCggctgctgctggagaagctg	14	12	0	2			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:145732324C>T	ENST00000528431.1	+	12	1589	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Missense_Mutation_p.R478W			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	478					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GGAGAAACTGCGGCTGCTGCT	0.632																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1432-1434)Cgg>Tgg		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						71	66	68					8																	145732324		2203	4300	6503	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732324C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1432C>T	8.37:g.145732324C>T	ENSP00000433586:p.Arg478Trp					GPT_ENST00000528431.1_Missense_Mutation_p.R478W	p.R478W	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	1655	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		478					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1432C>T	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611676	0.66558	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91124	-2.79;-2.79	4.68	2.52	0.30459	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123114	0.50627	D	0.000109	D	0.91399	0.7286	L	0.41492	1.28	0.36704	D	0.880285	D	0.76494	0.999	D	0.66979	0.948	D	0.92471	0.5985	10	0.87932	D	0	-35.9045	10.8248	0.46625	0.44:0.56:0.0:0.0	.	478	P24298	ALAT1_HUMAN	W	478	ENSP00000433586:R478W;ENSP00000378408:R478W	ENSP00000378408:R478W	R	+	1	2	GPT	145703132	0.979000	0.34478	0.972000	0.41901	0.939000	0.58152	0.413000	0.21148	0.891000	0.36235	0.561000	0.74099	CGG		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			4	230	0	0	0	1	0	4	230					T	145732324	C	T	145732324	3	4	32	1	0	0	0	0	1	0	0	0	6767	759	27	1	1474	1	GPT	8	145732324	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	38027369	145732324	631698	33	3825											
ZNF367	195828	broad.mit.edu	37	chr9	99180246	99180246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcttcggggagtcgtgGcagaagatgacgggcggcgg	19	10	0	3			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:99180246G>A	ENST00000375256.4	-	1	365	c.69C>T	c.(67-69)tgC>tgT	p.C23C		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	23	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGGAGTCGTGGCAGAAGATGA	0.756																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(67-69)tgC>tgT		zinc finger protein 367							3	4	4					9																	99180246		1575	3485	5060	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180246G>A	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.69C>T	9.37:g.99180246G>A							p.C23C	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	365	-		Acute lymphoblastic leukemia(62;0.0167)	23			Pro-rich.		Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.69C>T	CCDS6718.1																																																																																				0.756	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			5	48	0	0	0	1	0	5	48					A	99180246	G	A	99180246	2	1	32	1	0	0	0	0	0	0	0	1	17924	1195	42	2		2	ZNF367	9	99180246	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08		99180246	42033185	34	3826											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2	rs575911571		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353	352	353					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		10	1782	0	0	0	1	0	10	1782					T	116049072	C	T	116049072	3	4	32	1	0	0	0	0	1	0	0	0	12617	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	16868826	116049072	25164359	35	3827											
TNC	3371	broad.mit.edu	37	chr9	117822234	117822234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagttgagtctgaggccatCccagccaacctcagacacgg	10	15	2	3			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:117822234C>T	ENST00000350763.4	-	14	4492	c.4081G>A	c.(4081-4083)Gat>Aat	p.D1361N	TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1361N|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1270N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1361	Fibronectin type-III 9. {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)			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						CTGAGGCCATCCCAGCCAACC	0.493																																						ENST00000350763.4																			0				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						c.(4081-4083)Gat>Aat		tenascin C							60	48	52					9																	117822234		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117822234C>T		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.4081G>A	9.37:g.117822234C>T	ENSP00000265131:p.Asp1361Asn					TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1270N|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1361N|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron	p.D1361N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			14	4492	-			1361			Fibronectin type-III 9.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4081G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132387	0.56828	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.56103	0.48;0.48;0.48	5.43	4.54	0.55810	Fibronectin, type III (4);	0.141158	0.43260	N	0.000585	T	0.66925	0.2839	M	0.71920	2.185	0.80722	D	1	P;D	0.64830	0.553;0.994	B;D	0.63192	0.34;0.912	T	0.65286	-0.6205	10	0.26408	T	0.33	.	13.8185	0.63306	0.0:0.9264:0.0:0.0736	.	1361;1361	E9PC84;P24821	.;TENA_HUMAN	N	1361;1270;1361	ENSP00000265131:D1361N;ENSP00000339553:D1270N;ENSP00000411406:D1361N	ENSP00000339553:D1270N	D	-	1	0	TNC	116862055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.500000	0.53318	1.282000	0.44496	0.563000	0.77884	GAT		0.493	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	127	0	0	0	1	0	5	127					T	117822234	C	T	117822234	3	4	32	1	0	0	0	0	1	0	0	0	16322	855	30	2	2584	2	TNC	9	117822234	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	1773162	117822234	23391197	36	3828											
NUP214	8021	broad.mit.edu	37	chr9	134072641	134072641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcaagccagccggacGcattctcatctggtggggga	14	10	3	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:134072641G>A	ENST00000359428.5	+	29	3904	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000483497.2_Missense_Mutation_p.A80T			P35658	NU214_HUMAN	nucleoporin 214kDa	1254	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCCGGACGCATTCTCATC	0.483			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(3760-3762)Gca>Aca		nucleoporin 214kDa							82	79	80					9																	134072641		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134072641G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3760G>A	9.37:g.134072641G>A	ENSP00000352400:p.Ala1254Thr					NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000483497.2_Missense_Mutation_p.A80T	p.A1254T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	3904	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1254			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.3760G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029241	0.07589	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.46819	1.6;1.6;1.6;0.98;0.86	5.68	-7.71	0.01254	.	0.850834	0.10024	N	0.725668	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.003;0.001;0.003;0.001	B;B;B;B;B	0.12156	0.006;0.002;0.001;0.001;0.007	T	0.17653	-1.0362	10	0.21540	T	0.41	-0.0613	5.706	0.17909	0.5759:0.0771:0.2202:0.1269	.	80;683;848;1244;1254	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	T	1254;1244;1255;1233;848;683;80;31;31	ENSP00000352400:A1254T;ENSP00000396576:A1244T;ENSP00000405014:A1255T;ENSP00000436793:A80T;ENSP00000435364:A31T	ENSP00000352400:A1254T	A	+	1	0	NUP214	133062462	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.051000	0.03507	-1.632000	0.01541	-1.012000	0.02466	GCA		0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	420	0	0	0	1	0	5	420					A	134072641	G	A	134072641	3	1	32	1	0	0	0	0	1	0	0	0	10804	1087	38	1	3874	1	NUP214	9	134072641	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	16250407	134072641	7140790	37	3829											
UPF2	26019	broad.mit.edu	37	chr10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttctgtttcagccccacCttcttcttcttcttcatcct							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				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)			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)				tcagccccaccttcttcttcttc	0.374																																						ENST00000356352.2																			0				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						c.(3109-3114)ggt>g		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001651	inframe_deletion	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.chr10:11990430_11990432delCTT	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.3110_3112delAAG	10.37:g.11990439_11990441delCTT	ENSP00000348708:p.Glu1037del					UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del	p.EG1037del			Q9HAU5	RENT2_HUMAN			15	3583_3585	-		Renal(717;0.228)	1037			Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	In_Frame_Del	DEL	ENST00000356352.2	37	c.3110_3112delAAG	CCDS7086.1																																																																																				0.374	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			7	216						7	216	---	---	---	---	-	11990432	CTT	-	11990430	7	5	32	1	0	1	0	1	0	0	0	0	17058	681	24	0	734	0	UPF2	10	11990430	In_Frame_Del	DEL	CTT	TCGA-3A-A9IR-01A-11D-A38G-08		11990430	123544317	38	3830											
CACNB2	783	broad.mit.edu	37	chr10	18690942	18690942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagagaagcggagcgGcaggcccaggcacagttgga	18	10	0	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:18690942G>A	ENST00000324631.7	+	3	363	c.303G>A	c.(301-303)cgG>cgA	p.R101R	CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000396576.2_Silent_p.R46R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000377329.4_Silent_p.R47R	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	101				ER -> Q (in Ref. 5; AAD33729). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCGGAGCGGCAGGCCCAGG	0.567																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(136-138)cgG>cgA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72	61	65					10																	18690942		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690942G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.303G>A	10.37:g.18690942G>A						CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000324631.7_Silent_p.R101R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000377329.4_Silent_p.R47R	p.R46R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			2	639	+			101					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.138G>A	CCDS7125.1																																																																																				0.567	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		5	203	0	0	0	1	0	5	203					A	18690942	G	A	18690942	2	1	32	1	0	0	0	0	0	0	0	1	2560	1190	42	2		2	CACNB2	10	18690942	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	6700512	18690942	116843805	39	3831											
NRP1	8829	broad.mit.edu	37	chr10	33515104	33515104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgatccagtcttccccGttggagctaacgtcgatctt	10	11	2	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:33515104G>A	ENST00000265371.4	-	8	1620	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	NRP1_ENST00000432372.2_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N|NRP1_ENST00000374875.1_Silent_p.N184N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000374816.3_Silent_p.N365N|NRP1_ENST00000374821.5_Silent_p.N365N			O14786	NRP1_HUMAN	neuropilin 1	365	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTCTTCCCCGTTGGAGCTAA	0.433																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1093-1095)aaC>aaT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						162	145	151					10																	33515104		2203	4300	6503	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33515104G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1095C>T	10.37:g.33515104G>A						NRP1_ENST00000374816.3_Silent_p.N365N|NRP1_ENST00000374821.5_Silent_p.N365N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N	p.N365N			O14786	NRP1_HUMAN			8	1620	-			365			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.1095C>T	CCDS7177.1																																																																																				0.433	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			238	277	0	0	0	1	0	238	277					A	33515104	G	A	33515104	2	1	32	1	0	0	0	0	0	0	0	1	10702	1136	40	1		1	NRP1	10	33515104	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	14824162	33515104	102019643	40	3832											
BAG3	9531	broad.mit.edu	37	chr10	121432046	121432046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccggcccctgcgggcgGcatccccgttcaggtcatct	12	18	3	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:121432046G>A	ENST00000369085.3	+	3	1093	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	263					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CCTGCGGGCGGCATCCCCGTT	0.677																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(787-789)Gca>Aca		BCL2-associated athanogene 3							46	53	51					10																	121432046		2203	4299	6502	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121432046G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.787G>A	10.37:g.121432046G>A	ENSP00000358081:p.Ala263Thr						p.A263T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	1093	+		Lung NSC(174;0.109)|all_lung(145;0.142)	263					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.787G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550019	0.27652	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74421	-0.84;-0.84	5.94	0.494	0.16884	.	0.903691	0.09790	N	0.755578	T	0.55924	0.1951	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.33111	-0.9881	10	0.16896	T	0.51	-0.9935	10.7786	0.46365	0.1553:0.5997:0.245:0.0	.	263;263	O95817;Q53GY1	BAG3_HUMAN;.	T	263;205	ENSP00000358081:A263T;ENSP00000410036:A205T	ENSP00000358081:A263T	A	+	1	0	BAG3	121422036	0.010000	0.17322	0.000000	0.03702	0.008000	0.06430	0.787000	0.26858	0.090000	0.17273	-0.253000	0.11424	GCA		0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		4	143	0	0	0	1	0	4	143					A	121432046	G	A	121432046	3	1	32	1	0	0	0	0	1	0	0	0	1289	1203	42	2	797	2	BAG3	10	121432046	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	87916942	121432046	14102701	41	3833											
PHRF1	57661	broad.mit.edu	37	chr11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-													tggagaacaccaaagcgagcGaggaggaggaggacccgacc							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	638						7	638	---	---	---	---	-	592588	GAG	-	592586	7	5	32	1	0	1	0	1	0	0	0	0	11903	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-3A-A9IR-01A-11D-A38G-08		592586	134413930	42	3834											
C11orf83	790955	broad.mit.edu	37	chr11	62439431	62439431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgccctcaggagatgCcactgcaggacccaaggagc	11	15	1	1	rs375694374		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:62439431C>T	ENST00000531323.1	+	3	670	c.127C>T	c.(127-129)Cca>Tca	p.P43S	C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank|C11orf48_ENST00000354588.3_5'Flank			Q6UW78	CK083_HUMAN		43						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						TCAGGAGATGCCACTGCAGGA	0.652																																						ENST00000531323.1																			0				cervix(1)|lung(1)|prostate(1)	3						c.(127-129)Cca>Tca		chromosome 11 open reading frame 83		C	SER/PRO	0,4294		0,0,2147	22	29	26		127	5.1	1	11		26	1,8507		0,1,4253	no	missense	C11orf83	NM_001085372.2	74	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	43/94	62439431	1,12801	2147	4254	6401	SO:0001583	missense	790955					extracellular region		g.chr11:62439431C>T																												ENST00000531323.1:c.127C>T	11.37:g.62439431C>T	ENSP00000432692:p.Pro43Ser					C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S	p.P43S			Q6UW78	CK083_HUMAN			3	670	+			43					Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	c.127C>T	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556223	0.65425	0.0	1.18E-4	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	5.08	0.68730	.	0.084007	0.45361	D	0.000377	T	0.74397	0.3711	.	.	.	0.34743	D	0.730986	D	0.89917	1.0	D	0.73708	0.981	T	0.82096	-0.0626	8	0.72032	D	0.01	-14.1074	14.1832	0.65588	0.0:1.0:0.0:0.0	.	43	Q6UW78	CK083_HUMAN	S	43	.	ENSP00000367189:P43S	P	+	1	0	C11orf83	62196007	0.989000	0.36119	0.993000	0.49108	0.124000	0.20399	2.131000	0.42074	2.798000	0.96311	0.655000	0.94253	CCA		0.652	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2			4	129	0	0	0	1	0	4	129					T	62439431	C	T	62439431	3	4	32	1	0	0	0	0	1	0	0	0	1671	739	26	2	133	2	C11orf83	11	62439431	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	61846845	62439431	72567085	43	3835											
CCDC85B	11007	broad.mit.edu	37	chr11	65658773	65658773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgccttgcccccgtgCgggccccgcgacctaggcga	14	17	0	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:65658773C>T	ENST00000312579.2	+	1	899	c.519C>T	c.(517-519)tgC>tgT	p.C173C	FIBP_ENST00000338369.2_5'Flank|FIBP_ENST00000533045.1_5'Flank|FIBP_ENST00000357519.4_5'Flank|FIBP_ENST00000426652.2_5'Flank	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	173					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)									READ - Rectum adenocarcinoma(159;0.166)		TGCCCCCGTGCGGGCCCCGCG	0.721																																						ENST00000312579.2																			0											c.(517-519)tgC>tgT		coiled-coil domain containing 85B							9	9	9					11																	65658773		2177	4275	6452	SO:0001819	synonymous_variant	11007				cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding	g.chr11:65658773C>T	BC008796	CCDS8120.1	11q13.1	2010-12-24				ENSG00000175602			24926	protein-coding gene	gene with protein product	"hepatitis delta antigen interacting protein A"	605360				8810253, 15644333, 17873903	Standard	NM_006848		Approved	DIPA	uc001ogf.3	Q15834		ENST00000312579.2:c.519C>T	11.37:g.65658773C>T							p.C173C	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	899	+			173					B2R598|Q96HA0	Silent	SNP	ENST00000312579.2	37	c.519C>T	CCDS8120.1																																																																																				0.721	CCDC85B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391196.1	NM_006848		3	38	0	0	0	1	0	3	38					T	65658773	C	T	65658773	2	4	32	1	0	0	0	0	0	0	0	1	2867	776	27	1		1	CCDC85B	11	65658773	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	3219342	65658773	69347743	44	3836											
UNC93B1	81622	broad.mit.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	11	17	1	0	rs4014596		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																						ENST00000227471.2																			1	Substitution - Missense(1)	p.V498M(1)	skin(1)								c.(1492-1494)Gtg>Atg		unc-93 homolog B1 (C. elegans)							2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67759316C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met					UNC93B1_ENST00000530331.1_5'UTR	p.V498M	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			12	1571	-			499					O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.1492G>A		.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		3	42	0	0	0	1	0	3	42					T	67759316	C	T	67759316	3	4	32	1	0	0	0	0	1	0	0	0	17051	507	18	2	302	2	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	2100543	67759316	67247200	45	3837											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	568						12	568	---	---	---	---	-	77069992	CAT	-	77069990	7	5	32	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-3A-A9IR-01A-11D-A38G-08	9310674	77069990	57936526	46	3838											
MLL2	8085	broad.mit.edu	37	chr12	49445917	49445917	+	Frame_Shift_Del	DEL	C	C	-													cggtggagacaagggcgactCctccagtggagaaaaaggtg							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr12:49445917delC	ENST00000301067.7	-	10	1548	c.1549delG	c.(1549-1551)gagfs	p.E517fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	517	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGGGCGACTCCTCCAGTGGA	0.617																																						ENST00000301067.7																			0											c.(1549-1551)agfs		lysine (K)-specific methyltransferase 2D							46	52	50					12																	49445917		2049	4194	6243	SO:0001589	frameshift_variant	8085							g.chr12:49445917delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1549delG	12.37:g.49445917delC	ENSP00000301067:p.Glu517fs						p.E517fs	NM_003482.3	NP_003473.3					10	1548	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.1549delG	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			117	150						117	150	---	---	---	---	-	49445917	C	-	49445917	7	5	32	1	0	1	0	1	0	0	0	0	9662	864	30	0	15244	0	MLL2	12	49445917	Frame_Shift_Del	DEL	C	TCGA-3A-A9IR-01A-11D-A38G-08		49445917	84405978	47	3839											
ESD	2098	broad.mit.edu	37	chr13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-													cccaaatatccactaaaggcTtttttgccccagggacagag							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102	103	102					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			7	725						7	725	---	---	---	---	-	47354112	T	-	47354112	7	5	32	1	0	1	0	1	0	0	0	0	5268	1606	56	0	302	0	ESD	13	47354112	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08		47354112	67815766	48	3840											
TEP1	7011	broad.mit.edu	37	chr14	20874475	20874477	+	In_Frame_Del	DEL	CCT	CCT	-													cttcacggccagatcctccaCctcctcctcctctcccaagc							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:20874475_20874477delCCT	ENST00000262715.5	-	3	690_692	c.650_652delAGG	c.(649-654)gaggtg>gtg	p.E217del	TEP1_ENST00000556935.1_In_Frame_Del_p.E217del	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	217					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGATCCTCCACCTCCTCCTCCTC	0.498																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(649-654)gtg>g		telomerase-associated protein 1																																				SO:0001651	inframe_deletion	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20874475_20874477delCCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.650_652delAGG	14.37:g.20874484_20874486delCCT	ENSP00000262715:p.Glu217del					TEP1_ENST00000556935.1_In_Frame_Del_p.EV217del	p.EV217del	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	690_692	-	all_cancers(95;0.00123)	all_lung(585;0.235)	217					A0AUV9	In_Frame_Del	DEL	ENST00000262715.5	37	c.650_652delAGG	CCDS9548.1																																																																																				0.498	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	380						7	380	---	---	---	---	-	20874477	CCT	-	20874475	7	5	32	1	0	1	0	1	0	0	0	0	15811	507	18	0	7443	0	TEP1	14	20874475	In_Frame_Del	DEL	CCT	TCGA-3A-A9IR-01A-11D-A38G-08		20874475	86475065	49	3841											
C14orf149	112849	broad.mit.edu	37	chr14	59950906	59950906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagcagggtgggcccAgacacctccggacaccccgc	13	17	0	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:59950906A>G	ENST00000247194.4	-	1	242	c.129T>C	c.(127-129)tcT>tcC	p.S43S	JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000556985.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	43					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GGGTGGGCCCAGACACCTCCG	0.697											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000247194.4																			0											c.(127-129)tcT>tcC		L-3-hydroxyproline dehydratase (trans-)							17	15	16					14																	59950906		2091	4140	6231	SO:0001819	synonymous_variant	112849							g.chr14:59950906A>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.129T>C	14.37:g.59950906A>G			OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	RP11-701B16.2_ENST00000554253.1_RNA	p.S43S	NM_144581.1	NP_653182.1					1	242	-								Q96LJ5	Silent	SNP	ENST00000247194.4	37	c.129T>C	CCDS9739.1																																																																																				0.697	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		26	53	0	0	0	1	0	26	53					G	59950906	A	G	59950906	2	3	32	1	0	0	0	0	0	0	0	1	1757	175	7	4		4	C14orf149	14	59950906	Silent	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08	39076431	59950906	47398634	50	3842											
SPTB	6710	broad.mit.edu	37	chr14	65253368	65253368	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaatctcatccttgatAcctgcatgctgctgcaggag	9	13	2	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:65253368A>G	ENST00000389721.5	-	15	3347	c.3315T>C	c.(3313-3315)ggT>ggC	p.G1105G	SPTB_ENST00000542895.1_Silent_p.G1105G|SPTB_ENST00000389722.3_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000556626.1_Silent_p.G1105G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1105					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCTTGATACCTGCATGCT	0.577																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3313-3315)ggT>ggC		spectrin, beta, erythrocytic							76	69	71					14																	65253368		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253368A>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3315T>C	14.37:g.65253368A>G						SPTB_ENST00000556626.1_Silent_p.G1105G|SPTB_ENST00000542895.1_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000389721.5_Silent_p.G1105G	p.G1105G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3368	-		all_lung(585;4.15e-09)	1105					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.3315T>C	CCDS32100.1																																																																																				0.577	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			73	105	0	0	0	1	0	73	105					G	65253368	A	G	65253368	2	3	32	1	0	0	0	0	0	0	0	1	15170	378	14	4		4	SPTB	14	65253368	Silent	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08	5302462	65253368	42096172	51	3843											
ITPK1	3705	broad.mit.edu	37	chr14	93412799	93412799	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagagctcccggatgacctCgtcgctcggccgctcgaaca	13	15	0	2			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:93412799C>A	ENST00000267615.6	-	10	951	c.778G>T	c.(778-780)Gag>Tag	p.E260*	ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	260	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				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)			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)		CGGATGACCTCGTCGCTCGGC	0.632																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(778-780)Gag>Tag		inositol-tetrakisphosphate 1-kinase							83	75	78					14																	93412799		2203	4300	6503	SO:0001587	stop_gained	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.chr14:93412799C>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.778G>T	14.37:g.93412799C>A	ENSP00000267615:p.Glu260*					ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000556954.1_5'UTR	p.E260*			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	951	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	260			ATP-grasp.		Q9BTL6|Q9H2E7	Nonsense_Mutation	SNP	ENST00000267615.6	37	c.778G>T	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682923	0.68157	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	5.25	5.25	0.73442	.	0.147171	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.1782	18.8572	0.92257	0.0:1.0:0.0:0.0	.	.	.	.	X	260;290;260;141;260;260	.	ENSP00000267615:E260X	E	-	1	0	ITPK1	92482552	0.998000	0.40836	0.742000	0.31022	0.059000	0.15707	5.940000	0.70187	2.456000	0.83038	0.561000	0.74099	GAG		0.632	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		111	123	1	0	2.90702e-44	1	3.05421e-44	111	123					A	93412799	C	A	93412799	4	1	32	1	0	0	0	0	0	1	0	0	7946	893	31	3	522	3	ITPK1	14	93412799	Nonsense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	28159431	93412799	13936741	52	3844											
TUBGCP4	27229	broad.mit.edu	37	chr15	43696705	43696705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaactactgttacgacTagattataacaaatactata	5	8	1	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr15:43696705T>G	ENST00000260383.7	+	17	2200	c.1946T>G	c.(1945-1947)cTa>cGa	p.L649R	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.L648R			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	649					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)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGTTACGACTAGATTATAAC	0.453																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1942-1944)cTa>cGa		tubulin, gamma complex associated protein 4							99	90	93					15																	43696705		1869	4100	5969	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43696705T>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1946T>G	15.37:g.43696705T>G	ENSP00000260383:p.Leu649Arg					TUBGCP4_ENST00000260383.7_Missense_Mutation_p.L649R|TUBGCP4_ENST00000399460.3_3'UTR	p.L648R	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	17	2183	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	649					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1943T>G		.	.	.	.	.	.	.	.	.	.	T	27.1	4.804879	0.90623	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70710	-0.4797	9	0.87932	D	0	-8.7423	15.4929	0.75624	0.0:0.0:0.0:1.0	.	649;648	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	R	648	.	ENSP00000260383:L648R	L	+	2	0	TUBGCP4	41483997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.308000	0.77769	0.533000	0.62120	CTA		0.453	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		29	272	0	0	0	1	0	29	272					G	43696705	T	G	43696705	3	3	32	1	0	0	0	0	1	0	0	0	16822	1522	53	4	2009	4	TUBGCP4	15	43696705	Missense_Mutation	SNP	T	TCGA-3A-A9IR-01A-11D-A38G-08		43696705	58834687	53	3845											
LOC81691	81691	broad.mit.edu	37	chr16	20856445	20856445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggactggaagctgaaagGcaggcatgccctaaccccca	11	13	0	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:20856445G>A	ENST00000261377.6	+	18	2215	c.2006G>A	c.(2005-2007)gGc>gAc	p.G669D	AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AAGCTGAAAGGCAGGCATGCC	0.537																																						ENST00000261377.6																			0											c.(2005-2007)gGc>gAc									79	72	74					16																	20856445		2201	4300	6501	SO:0001583	missense	0							g.chr16:20856445G>A																												ENST00000261377.6:c.2006G>A	16.37:g.20856445G>A	ENSP00000261377:p.Gly669Asp					AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D|AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron	p.G669D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					18	2215	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.2006G>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724681	0.68959	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.34072	1.38;1.78	5.53	4.56	0.56223	RNA recognition motif domain (2);	0.418429	0.26474	N	0.024169	T	0.52805	0.1757	L	0.55990	1.75	0.35869	D	0.828072	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.91	T	0.64188	-0.6466	10	0.62326	D	0.03	-13.38	12.8304	0.57742	0.0:0.0:0.8362:0.1638	.	638;669	Q96IC2-2;Q96IC2	.;REXON_HUMAN	D	638;669	ENSP00000261378:G638D;ENSP00000261377:G669D	ENSP00000261377:G669D	G	+	2	0	AC004381.6	20763946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.000000	0.63940	1.284000	0.44531	0.561000	0.74099	GGC		0.537	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			79	112	0	0	0	1	0	79	112					A	20856445	G	A	20856445	3	1	32	1	0	0	0	0	1	0	0	0	8928	1203	42	2	2072	2	LOC81691	16	20856445	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08		20856445	69498308	54	3846											
PRKCB	5579	broad.mit.edu	37	chr16	23847561	23847561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccgtgcgcttcgcccGcaaaggcgccctccggcaga	13	17	0	1	rs200442462		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:23847561G>A	ENST00000321728.7	+	1	240	c.65G>A	c.(64-66)cGc>cAc	p.R22H	PRKCB_ENST00000498058.1_Missense_Mutation_p.R22H|PRKCB_ENST00000303531.7_Missense_Mutation_p.R22H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	22					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGCGCC	0.692																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(64-66)cGc>cAc		protein kinase C, beta	Vitamin E(DB00163)						59	52	54					16																	23847561		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847561G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.65G>A	16.37:g.23847561G>A	ENSP00000318315:p.Arg22His					PRKCB_ENST00000321728.7_Missense_Mutation_p.R22H|PRKCB_ENST00000498058.1_Missense_Mutation_p.R22H	p.R22H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	217	+			22					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.65G>A	CCDS10618.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	16.39	3.108558	0.56291	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88124	-2.34;-2.34	3.71	2.73	0.32206	.	0.086882	0.41294	U	0.000919	D	0.92844	0.7724	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92357	0.5894	10	0.87932	D	0	.	10.3438	0.43895	0.0:0.0:0.8013:0.1987	.	22;22	P05771-2;P05771	.;KPCB_HUMAN	H	22	ENSP00000318315:R22H;ENSP00000305355:R22H	ENSP00000305355:R22H	R	+	2	0	PRKCB	23755062	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	8.649000	0.91067	0.640000	0.30582	-0.317000	0.08691	CGC		0.692	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		4	234	0	0	0	1	0	4	234					A	23847561	G	A	23847561	3	1	32	1	0	0	0	0	1	0	0	0	12555	1087	38	1	67	1	PRKCB	16	23847561	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	2991116	23847561	66507192	55	3847											
CHRNB1	1140	broad.mit.edu	37	chr17	7348716	7348716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggtctcatcctggcgcaActcatcagcctggtgagggc	13	12	3	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:7348716A>G	ENST00000306071.2	+	2	253	c.186A>G	c.(184-186)caA>caG	p.Q62Q	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_5'Flank|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	62					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCCTGGCGCAACTCATCAGCC	0.682																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(184-186)caA>caG		cholinergic receptor, nicotinic, beta 1 (muscle)							15	16	16					17																	7348716		2200	4294	6494	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7348716A>G	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.186A>G	17.37:g.7348716A>G						FGF11_ENST00000575331.1_3'UTR	p.Q62Q	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			2	253	+		Prostate(122;0.157)	62					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.186A>G	CCDS11106.1																																																																																				0.682	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			30	42	0	0	0	1	0	30	42					G	7348716	A	G	7348716	2	3	32	1	0	0	0	0	0	0	0	1	3399	40	2	4		4	CHRNB1	17	7348716	Silent	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08		7348716	73846494	56	3848											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262122	39262122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctccagctgctgccGcccctcttgctgtgaatcca	8	17	2	1	rs200757692|rs188946528	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:39262122G>A	ENST00000391415.1	+	1	539	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	161	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgccgcccctcttgc	0.652													g|||	92	0.0183706	0.0038	0.0331	5008	,	,		17570	0.001		0.0616	False		,,,				2504	0.001					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(481-483)cGc>cAc		keratin associated protein 4-9							8	13	11					17																	39262122		684	1580	2264	SO:0001583	missense	100132386					keratin filament		g.chr17:39262122G>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.482G>A	17.37:g.39262122G>A	ENSP00000375234:p.Arg161His						p.R161H	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	539	+			161			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.482G>A	CCDS54124.1	61	0.027930402930402932	3	0.006097560975609756	12	0.03314917127071823	1	0.0017482517482517483	45	0.059366754617414245	.	12.11	1.839141	0.32513	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00599	6.3	2.87	-2.78	0.05859	.	0.000000	0.40640	U	0.001042	T	0.00109	0.0003	M	0.74881	2.28	0.09310	N	1	B	0.22080	0.064	B	0.12837	0.008	T	0.47598	-0.9105	10	0.56958	D	0.05	.	4.4035	0.11399	0.3381:0.1654:0.4965:0.0	.	161	Q9BYQ8	KRA49_HUMAN	H	149;161;152	ENSP00000375234:R161H	ENSP00000334461:R152H	R	+	2	0	KRTAP4-9	36515648	0.000000	0.05858	0.312000	0.25196	0.222000	0.24845	-0.253000	0.08794	-0.966000	0.03587	-1.073000	0.02249	CGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		15	56	0	0	0	1	0	15	56					A	39262122	G	A	39262122	3	1	32	1	0	0	0	0	1	0	0	0	8588	1087	38	1	484	1	KRTAP4-9	17	39262122	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	31913406	39262122	41933088	57	3849											
C17orf57	124989	broad.mit.edu	37	chr17	45517840	45517840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttatgactaaattatcCgatatattgacaattcctaa	4	6	0	2	rs200910398	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:45517840C>T	ENST00000331493.2	+	25	3093	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S		NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	894	EF-hand 6.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTAAATTATCCGATATATTGA	0.294													.|||	4	0.000798722	0.0	0.0043	5008	,	,		16893	0.001		0.0	False		,,,				2504	0.0					ENST00000331493.2																			0											c.(2680-2682)tcC>tcT		EF-hand calcium binding domain 13							47	49	49					17																	45517840		2203	4291	6494	SO:0001819	synonymous_variant	124989							g.chr17:45517840C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2682C>T	17.37:g.45517840C>T							p.S894S	NM_152347.4	NP_689560.3					25	3093	+								G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	c.2682C>T	CCDS11512.1																																																																																				0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		18	501	0	0	0	1	0	18	501					T	45517840	C	T	45517840	2	4	32	1	0	0	0	0	0	0	0	1	1871	639	23	1		1	C17orf57	17	45517840	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	6255718	45517840	35677370	58	3850											
ZNF90	7643	broad.mit.edu	37	chr19	20216076	20216076	+	Frame_Shift_Del	DEL	A	A	-													atcacctgtctggagcaaggAaaaaaacccttcactgtgaa							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:20216076delA	ENST00000418063.2	+	3	289	c.177delA	c.(175-177)ggafs	p.G59fs	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGCAAGGAAAAAAACCCT	0.393																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(175-177)ggfs		zinc finger protein 90							120	116	117					19																	20216076		692	1591	2283	SO:0001589	frameshift_variant	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20216076delA	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.177delA	19.37:g.20216076delA	ENSP00000410466:p.Gly59fs					ZNF90_ENST00000474284.1_3'UTR	p.G59fs	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			3	289	+			59			KRAB.		B9EH87	Frame_Shift_Del	DEL	ENST00000418063.2	37	c.177delA	CCDS46028.1																																																																																				0.393	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		7	812						7	812	---	---	---	---	-	20216076	A	-	20216076	7	5	32	1	0	1	0	1	0	0	0	0	18252	233	9	0	187	0	ZNF90	19	20216076	Frame_Shift_Del	DEL	A	TCGA-3A-A9IR-01A-11D-A38G-08		20216076	38912907	59	3851											
MAP3K10	4294	broad.mit.edu	37	chr19	40697941	40697943	+	Start_Codon_Del	DEL	GGA	GGA	-													gcccccggcccctcccccatGgaggaggaggagggggcggt							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:40697941_40697943delGGA	ENST00000253055.3	+	0	291_293					NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTCCCCCATGGAGGAGGAGGAG	0.773																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24								mitogen-activated protein kinase kinase kinase 10				17,2787		3,11,1388						4.2	1			3	42,5980		5,32,2974	no	coding	MAP3K10	NM_002446.3		8,43,4362	A1A1,A1R,RR		0.6974,0.6063,0.6685				59,8767				SO:0001582	initiator_codon_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40697941_40697943delGGA	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591		19.37:g.40697950_40697952delGGA								NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			0	291_293	+								Q12761|Q14871	Translation_Start_Site	DEL	ENST00000253055.3	37		CCDS12549.1																																																																																				0.773	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		3	6						3	6	---	---	---	---	-	40697943	GGA	-	40697941	7	5	32	1	0	1	0	1	0	0	0	0	9285	1348	47	0	5	0	MAP3K10	19	40697941	Start_Codon_Del	DEL	GGA	TCGA-3A-A9IR-01A-11D-A38G-08	20481865	40697941	18431042	60	3852											
SLC6A16	28968	broad.mit.edu	37	chr19	49797186	49797186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcagccccatggccaGcaacatcaggaagaagataa	10	12	2	2			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:49797186G>A	ENST00000335875.4	-	9	1757	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	SLC6A16_ENST00000454748.3_Silent_p.L506L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	506					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCATGGCCAGCAACATCAGG	0.498																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1516-1518)Ctg>Ttg		solute carrier family 6, member 16							162	165	164					19																	49797186		2026	4189	6215	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797186G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1516C>T	19.37:g.49797186G>A						SLC6A16_ENST00000335875.4_Silent_p.L506L	p.L506L			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1717	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	506					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.1516C>T	CCDS42590.1																																																																																				0.498	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		6	590	0	0	0	1	0	6	590					A	49797186	G	A	49797186	2	1	32	1	0	0	0	0	0	0	0	1	14729	962	34	2		2	SLC6A16	19	49797186	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	9099245	49797186	9331797	61	3853											
TMC4	147798	broad.mit.edu	37	chr19	54664079	54664079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggtcagcgccacagcGcgccgtgccaggaagacttt	15	12	1	1	rs77135688		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:54664079G>A	ENST00000376591.4	-	15	2234	c.2103C>T	c.(2101-2103)cgC>cgT	p.R701R	TMC4_ENST00000416963.1_Silent_p.R283R|TMC4_ENST00000301187.4_Silent_p.R695R|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	701					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCCACAGCGCGCCGTGCCA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0					ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(2101-2103)cgC>cgT		transmembrane channel-like 4		G	,	1,4405	2.1+/-5.4	0,1,2202	79	89	85		2103,2085	-10.7	0.1	19	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	701/713,695/707	54664079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54664079G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2103C>T	19.37:g.54664079G>A						TMC4_ENST00000301187.4_Silent_p.R695R|TMC4_ENST00000416963.1_Silent_p.R283R	p.R701R	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			15	2234	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		701					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.2103C>T	CCDS46174.1																																																																																				0.612	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			138	179	0	0	0	1	0	138	179					A	54664079	G	A	54664079	2	1	32	1	0	0	0	0	0	0	0	1	16039	1074	38	1		1	TMC4	19	54664079	Silent	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	4866893	54664079	4464904	62	3854											
ACSS1	84532	broad.mit.edu	37	chr20	24993472	24993472	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgtcctcaatctctgcggtCcccagccggtggccactgat	11	16	2	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr20:24993472C>A	ENST00000323482.4	-	11	1762	c.1683G>T	c.(1681-1683)ggG>ggT	p.G561G	ACSS1_ENST00000542618.1_Silent_p.G440G|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Silent_p.G478G|ACSS1_ENST00000484396.1_5'Flank	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	561					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTCTGCGGTCCCCAGCCGGT	0.587																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1432-1434)ggG>ggT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						127	111	116					20																	24993472		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993472C>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1683G>T	20.37:g.24993472C>A						ACSS1_ENST00000323482.4_Silent_p.G561G|ACSS1_ENST00000542618.1_Silent_p.G440G|ACSS1_ENST00000432802.2_Intron	p.G478G			Q9NUB1	ACS2L_HUMAN			9	2965	-			561					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1434G>T	CCDS13167.1																																																																																				0.587	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		165	200	1	0	4.90236e-94	1	5.21661e-94	165	200					A	24993472	C	A	24993472	2	1	32	1	0	0	0	0	0	0	0	1	188	842	30	3		3	ACSS1	20	24993472	Silent	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08		24993472	38032048	63	3855											
PRDM15	63977	broad.mit.edu	37	chr21	43299470	43299470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggaagccggggggcggCggcggggcatggcgggactt	22	11	0	0	rs555345589		TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:43299470C>T	ENST00000269844.3	-	1	121	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SNORA3_ENST00000515969.1_RNA|PRDM15_ENST00000538201.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|AP001619.2_ENST00000432411.1_RNA|PRDM15_ENST00000422911.1_Missense_Mutation_p.R4H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						cggggggcggcggcggggcAT	0.746													c|||	1	0.000199681	0.0	0.0	5008	,	,		2754	0.001		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(10-12)cGc>cAc		PR domain containing 15							4	5	4					21																	43299470		1746	3685	5431	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43299470C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.11G>A	21.37:g.43299470C>T	ENSP00000269844:p.Arg4His					PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R4H|PRDM15_ENST00000538201.1_5'UTR	p.R4H			P57071	PRD15_HUMAN			1	112	-			4					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.11G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	4.273	0.049715	0.08243	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000269844	T;T;T	0.10960	2.82;2.83;2.82	3.01	-6.02	0.02192	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45454	-0.9260	9	0.21014	T	0.42	.	8.0005	0.30293	0.0:0.5084:0.3199:0.1718	.	4;4;4	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	4	ENSP00000408592:R4H;ENSP00000381556:R4H;ENSP00000269844:R4H	ENSP00000269844:R4H	R	-	2	0	PRDM15	42172539	0.000000	0.05858	0.335000	0.25508	0.962000	0.63368	-3.397000	0.00485	-1.134000	0.02899	-0.537000	0.04273	CGC		0.746	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		25	39	0	0	0	1	0	25	39					T	43299470	C	T	43299470	3	4	32	1	0	0	0	0	1	0	0	0	12503	768	27	1	4636	1	PRDM15	21	43299470	Missense_Mutation	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08		43299470	4830425	64	3856											
LSS	4047	broad.mit.edu	37	chr21	47629468	47629468	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccaggcaccggcctcacCtgtgagagcctcaggaactc	11	17	2	1			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:47629468C>A	ENST00000397728.3	-	13	1344	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	LSS_ENST00000522411.1_Splice_Site_p.Q411H|LSS_ENST00000457828.2_Splice_Site_p.Q342H|LSS_ENST00000356396.4_Splice_Site_p.Q422H	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	422					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCGGCCTCACCTGTGAGAGCC	0.652																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.e13+1		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							37	34	35					21																	47629468		2203	4297	6500	SO:0001630	splice_region_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47629468C>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1266+1G>T	21.37:g.47629468C>A						LSS_ENST00000457828.2_Splice_Site_p.Q342_splice|LSS_ENST00000356396.4_Splice_Site_p.Q422_splice|LSS_ENST00000522411.1_Splice_Site_p.Q411_splice	p.Q422_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			13	1344	-	Breast(49;0.214)		422					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Splice_Site	SNP	ENST00000397728.3	37	c.1266_splice	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377801	0.61735	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.3	4.42	0.53409	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82723	-0.0316	9	.	.	.	.	13.865	0.63583	0.0:0.9252:0.0:0.0748	.	411;422	E9PEI9;P48449	.;ERG7_HUMAN	H	422;342;422;411	ENSP00000348762:Q422H;ENSP00000409191:Q342H;ENSP00000380837:Q422H;ENSP00000429133:Q411H	.	Q	-	3	2	LSS	46453896	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	6.017000	0.70805	1.385000	0.46445	0.655000	0.94253	CAG		0.652	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Missense_Mutation	3	49	1	0	6.4e-05	1	6.55802e-05	3	49					A	47629468	C	A	47629468	5	1	32	1	0	0	0	0	0	0	1	0	9103	695	24	3	972	3	LSS	21	47629468	Splice_Site	SNP	C	TCGA-3A-A9IR-01A-11D-A38G-08	4329998	47629468	500427	65	3857											
DGKK	139189	broad.mit.edu	37	chrX	50213492	50213492	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctggacagggacctggAgcaagctctggacagggctc	15	12	2	0			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:50213492A>G	ENST00000376025.2	-	0	245							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGGACCTGGAGCAAGCTCTG	0.677																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							47	55	53					X																	50213492		1922	4117	6039			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213492A>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213492A>G										Q5KSL6	DGKK_HUMAN			0	245	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.677	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		247	250	0	0	0	1	0	247	250					G	50213492	A	G	50213492	1	3	32	0	1	0	0	0	0	0	0	0	4488	291	11	4		4	DGKK	23	50213492	RNA	SNP	A	TCGA-3A-A9IR-01A-11D-A38G-08		50213492	105057068	66	3858											
ZMYM3	9203	broad.mit.edu	37	chrX	70463797	70463797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctcagcagctgagcagGcgagaatatcctctttgata	11	9	2	4			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:70463797G>A	ENST00000353904.2	-	21	3501	c.3314C>T	c.(3313-3315)gCc>gTc	p.A1105V	ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1093V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCTGAGCAGGCGAGAATATC	0.463																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3277-3279)gCc>gTc		zinc finger, MYM-type 3							164	112	129					X																	70463797		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463797G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3314C>T	X.37:g.70463797G>A	ENSP00000343909:p.Ala1105Val					ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR	p.A1093V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	3975	-	Renal(35;0.156)		1105					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3278C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	19.13	3.766881	0.69878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.46451	1.46;0.87;1.46;1.47;1.47	5.04	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.38825	0.1055	N	0.22421	0.69	0.35936	D	0.832909	P;P	0.41313	0.745;0.629	P;B	0.47645	0.553;0.351	T	0.51268	-0.8727	10	0.49607	T	0.09	-12.5039	13.8071	0.63238	0.0:0.0:0.8458:0.1542	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1105;1093;1105;1100;1107	ENSP00000322845:A1105V;ENSP00000363110:A1093V;ENSP00000343909:A1105V;ENSP00000363096:A1100V;ENSP00000363100:A1107V	ENSP00000322845:A1105V	A	-	2	0	ZMYM3	70380522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.215000	0.65241	1.066000	0.40716	0.529000	0.55759	GCC		0.463	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		96	108	0	0	0	1	0	96	108					A	70463797	G	A	70463797	3	1	32	1	0	0	0	0	1	0	0	0	17754	1203	42	2	818	2	ZMYM3	23	70463797	Missense_Mutation	SNP	G	TCGA-3A-A9IR-01A-11D-A38G-08	20250305	70463797	84806763	67	3859											
RNF128	79589	broad.mit.edu	37	chrX	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-													aaccaggagaataggtccagTtttttttggctccttgtaat							TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70	74	72					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		7	469						7	469	---	---	---	---	-	105937256	T	-	105937256	7	5	32	1	0	1	0	1	0	0	0	0	13486	1722	60	0	26	0	RNF128	23	105937256	Frame_Shift_Del	DEL	T	TCGA-3A-A9IR-01A-11D-A38G-08	35473459	105937256	49333304	68	3860											
ABCA4	24	broad.mit.edu	37	chr1	94466574	94466574	+	Frame_Shift_Del	DEL	C	C	-													ttgcctgtgggatgtgaggaCcacagccctcccttctctga							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:94466574delC	ENST00000370225.3	-	46	6456	c.6370delG	c.(6370-6372)gtcfs	p.V2124fs	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Frame_Shift_Del_p.V394fs|ABCA4_ENST00000535881.1_Frame_Shift_Del_p.V243fs	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2124	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GATGTGAGGACCACAGCCCTC	0.617																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6370-6372)tcfs		ATP-binding cassette, sub-family A (ABC1), member 4							117	106	109					1																	94466574		2203	4300	6503	SO:0001589	frameshift_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466574delC	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6370delG	1.37:g.94466574delC	ENSP00000359245:p.Val2124fs					ABCA4_ENST00000535881.1_Frame_Shift_Del_p.V243fs|ABCA4_ENST00000536513.1_Frame_Shift_Del_p.V394fs	p.V2124fs	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	46	6456	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2124			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Frame_Shift_Del	DEL	ENST00000370225.3	37	c.6370delG	CCDS747.1																																																																																				0.617	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		120	222						120	222	---	---	---	---	-	94466574	C	-	94466574	7	5	33	1	0	1	0	1	0	0	0	0	34	507	18	0	471	0	ABCA4	1	94466574	Frame_Shift_Del	DEL	C	TCGA-3A-A9IS-01A-21D-A397-08		94466574	154784047	1	3861											
WDR3	10885	broad.mit.edu	37	chr1	118485115	118485115	+	Frame_Shift_Del	DEL	C	C	-													aggttaatgttgaaatgagtCtgcaagatgaaatccagcgg							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:118485115delC	ENST00000349139.5	+	10	1092	c.1045delC	c.(1045-1047)ctgfs	p.L349fs		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	349						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L349V(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGAAATGAGTCTGCAAGATGA	0.333																																						ENST00000349139.4																			1	Substitution - Missense(1)	p.L349V(1)	breast(1)	breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1045-1047)tgfs		WD repeat domain 3							97	100	99					1																	118485115		2203	4300	6503	SO:0001589	frameshift_variant	10885					nuclear membrane|nucleolus		g.chr1:118485115delC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1045delC	1.37:g.118485115delC	ENSP00000308179:p.Leu349fs						p.L349fs	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	10	1092	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	349						Frame_Shift_Del	DEL	ENST00000349139.5	37	c.1045delC	CCDS898.1																																																																																				0.333	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		195	288						195	288	---	---	---	---	-	118485115	C	-	118485115	7	5	33	1	0	1	0	1	0	0	0	0	17339	912	32	0	1079	0	WDR3	1	118485115	Frame_Shift_Del	DEL	C	TCGA-3A-A9IS-01A-21D-A397-08	24018541	118485115	130765506	2	3862											
SNAP47	116841	broad.mit.edu	37	chr1	227935771	227935771	+	Missense_Mutation	SNP	G	G	A													agcctggagccgtggcagacGcatctgtcccaaggacccgg					rs140772937		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:227935771G>A	ENST00000366759.4	+	2	883	c.469G>A	c.(469-471)Gca>Aca	p.A157T	SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	157	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGTGGCAGACGCATCTGTCCC	0.632																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(469-471)Gca>Aca		synaptosomal-associated protein, 47kDa		G	THR/ALA	0,4406		0,0,2203	47	44	45		469	-8.2	0	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/465	227935771	1,13005	2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935771G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.469G>A	1.37:g.227935771G>A	ENSP00000355721:p.Ala157Thr					SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157T	p.A157T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	883	+			157			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.469G>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.299|0.299	-0.975214|-0.975214	0.02215|0.02215	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366759;ENST00000315781|ENST00000426344	T;T|.	0.43294|.	0.95;0.95|.	4.1|4.1	-8.19|-8.19	0.01049|0.01049	.|.	0.998350|.	0.08105|.	N|.	0.997028|.	T|T	0.18593|0.18593	0.0446|0.0446	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.16396|.	0.017;0.017|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.37606|.	T|.	0.19|.	-13.2486|-13.2486	0.7418|0.7418	0.00975|0.00975	0.3408:0.1803:0.2846:0.1943|0.3408:0.1803:0.2846:0.1943	.|.	157;157|.	Q5SQN1;Q5SQN1-2|.	SNP47_HUMAN;.|.	T|H	157|148	ENSP00000355721:A157T;ENSP00000314157:A157T|.	ENSP00000314157:A157T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226002394|226002394	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	1.165000|1.165000	0.31822|0.31822	-2.007000|-2.007000	0.00956|0.00956	-2.149000|-2.149000	0.00334|0.00334	GCA|CGC		0.632	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		93	78	0	0	0	1	0	93	78					A	227935771	G	A	227935771	3	1	33	1	0	0	0	0	1	0	0	0	14882	1087	38	1	475	1	SNAP47	1	227935771	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	109450656	227935771	21314850	3	3863	25	2									
SNAP47	116841	broad.mit.edu	37	chr1	227935772	227935772	+	Missense_Mutation	SNP	C	C	T													gcctggagccgtggcagacgCatctgtcccaaggacccggg							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:227935772C>T	ENST00000366759.4	+	2	884	c.470C>T	c.(469-471)gCa>gTa	p.A157V	SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	157	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTGGCAGACGCATCTGTCCCA	0.632																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(469-471)gCa>gTa		synaptosomal-associated protein, 47kDa							47	44	45					1																	227935772		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935772C>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.470C>T	1.37:g.227935772C>T	ENSP00000355721:p.Ala157Val					SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157V	p.A157V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	884	+			157			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.470C>T	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.089923	0.01873	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.44482	0.92;0.92	3.96	-4.42	0.03579	.	0.998350	0.08105	N	0.997028	T	0.20700	0.0498	N	0.17082	0.46	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11792	-1.0573	10	0.36615	T	0.2	-13.2486	2.9831	0.05960	0.11:0.4242:0.1085:0.3573	.	157;157	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	V	157	ENSP00000355721:A157V;ENSP00000314157:A157V	ENSP00000314157:A157V	A	+	2	0	SNAP47	226002395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.119000	0.10676	-1.903000	0.01093	-1.579000	0.00862	GCA		0.632	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		95	79	0	0	0	1	0	95	79					T	227935772	C	T	227935772	3	4	33	1	0	0	0	0	1	0	0	0	14882	710	25	2	476	2	SNAP47	1	227935772	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	1	227935772	21314849	4	3864	25	2									
URB2	9816	broad.mit.edu	37	chr1	229790000	229790000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgttgtctgtaggaagCatagatgacctgcctacggt	11	8	1	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:229790000C>T	ENST00000258243.2	+	9	4378	c.4242C>T	c.(4240-4242)agC>agT	p.S1414S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1414						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGTAGGAAGCATAGATGACC	0.423																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4240-4242)agC>agT		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							177	156	163					1																	229790000		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229790000C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4242C>T	1.37:g.229790000C>T							p.S1414S	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			9	4378	+			1414					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.4242C>T	CCDS31052.1																																																																																				0.423	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	278	0	0	0	1	0	5	278					T	229790000	C	T	229790000	2	4	33	1	0	0	0	0	0	0	0	1	17079	709	25	2		2	URB2	1	229790000	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	1854228	229790000	19460621	5	3865											
ZNF692	55657	broad.mit.edu	37	chr1	249150605	249150605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgggaaggtctctgGtgggggtcccaccctcctgc	17	11	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:249150605G>A	ENST00000306601.4	-	6	707	c.541C>T	c.(541-543)Cca>Tca	p.P181S	ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000451251.1_Missense_Mutation_p.P186S|ZNF692_ENST00000366469.5_Missense_Mutation_p.P181S|ZNF692_ENST00000427146.1_Intron|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AAGGTCTCTGGTGGGGGTCCC	0.557																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(556-558)Cca>Tca		zinc finger protein 692							168	143	152					1																	249150605		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150605G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.541C>T	1.37:g.249150605G>A	ENSP00000305483:p.Pro181Ser					ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.P181S|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000306601.4_Missense_Mutation_p.P181S|ZNF692_ENST00000366471.3_Intron	p.P186S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	901	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	181					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.556C>T	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781489	0.16120	.	.	ENSG00000171163	ENST00000306601;ENST00000366469;ENST00000451251	T;T;T	0.07216	3.23;3.22;3.21	4.07	-0.0608	0.13788	.	0.689733	0.13108	N	0.413162	T	0.06645	0.0170	L	0.51422	1.61	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.12837	0.008;0.008	T	0.43015	-0.9417	10	0.17369	T	0.5	-0.8025	4.3491	0.11146	0.2141:0.3718:0.4141:0.0	.	186;181	B4DXZ0;Q9BU19	.;ZN692_HUMAN	S	181;181;186	ENSP00000305483:P181S;ENSP00000355425:P181S;ENSP00000391200:P186S	ENSP00000305483:P181S	P	-	1	0	ZNF692	247117228	0.002000	0.14202	0.000000	0.03702	0.980000	0.70556	0.659000	0.24994	0.006000	0.14734	-0.359000	0.07587	CCA		0.557	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		42	48	0	0	0	1	0	42	48					A	249150605	G	A	249150605	3	1	33	1	0	0	0	0	1	0	0	0	18150	1261	44	2	1046	2	ZNF692	1	249150605	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	19360605	249150605	100016	6	3866											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	576						8	576	---	---	---	---	-	64778674	GAT	-	64778672	7	5	33	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-3A-A9IS-01A-21D-A397-08		64778672	178420701	7	3867											
RNF181	51255	broad.mit.edu	37	chr2	85822895	85822895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggcagccatggcgtcCtatttcgatgaacacgactg	13	11	0	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:85822895C>T	ENST00000306368.4	+	1	39	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RNF181_ENST00000441634.1_Silent_p.S3S	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	3					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						CCATGGCGTCCTATTTCGATG	0.637																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(7-9)tcC>tcT		ring finger protein 181							41	35	37					2																	85822895		2203	4300	6503	SO:0001819	synonymous_variant	51255						ligase activity|zinc ion binding	g.chr2:85822895C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.9C>T	2.37:g.85822895C>T						RNF181_ENST00000306368.4_Silent_p.S3S	p.S3S			Q9P0P0	RN181_HUMAN			1	48	+			3					Q53H81	Silent	SNP	ENST00000306368.4	37	c.9C>T	CCDS1981.1																																																																																				0.637	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		39	56	0	0	0	1	0	39	56					T	85822895	C	T	85822895	2	4	33	1	0	0	0	0	0	0	0	1	13515	668	24	2		2	RNF181	2	85822895	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	21044223	85822895	157376478	8	3868											
RGPD3	653489	broad.mit.edu	37	chr2	107049640	107049640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctgaatccgcatttcgCaaagaaccatttttatagag	6	8	1	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:107049640C>A	ENST00000409886.3	-	16	2394	c.2307G>T	c.(2305-2307)ttG>ttT	p.L769F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L769F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	769					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCGCATTTCGCAAAGAACCAT	0.393																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2305-2307)ttG>ttT		RANBP2-like and GRIP domain containing 3							118	95	102					2																	107049640		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049640C>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2307G>T	2.37:g.107049640C>A	ENSP00000386588:p.Leu769Phe					RGPD3_ENST00000304514.7_Missense_Mutation_p.L769F	p.L769F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2394	-			769					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2307G>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.413561	0.00191	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23147	1.92;1.92	2.34	-1.52	0.08637	.	.	.	.	.	T	0.06917	0.0176	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36890	-0.9729	9	0.15952	T	0.53	-0.1475	2.2087	0.03942	0.1869:0.4924:0.185:0.1358	.	769	A6NKT7	RGPD3_HUMAN	F	769;527;769	ENSP00000386588:L769F;ENSP00000303659:L769F	ENSP00000303659:L769F	L	-	3	2	RGPD3	106416072	0.000000	0.05858	0.800000	0.32199	0.022000	0.10575	-0.972000	0.03802	-0.085000	0.12573	0.173000	0.16961	TTG		0.393	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		282	853	1	0	4.36536e-96	1	4.88095e-96	282	853					A	107049640	C	A	107049640	3	1	33	1	0	0	0	0	1	0	0	0	13337	709	25	3	3001	3	RGPD3	2	107049640	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	21226745	107049640	136149733	9	3869											
CCDC138	165055	broad.mit.edu	37	chr2	109408155	109408155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatgatgaactggattctttCcatgatttgaagaaacagga	10	5	1	5			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:109408155C>A	ENST00000295124.4	+	4	351	c.291C>A	c.(289-291)ttC>ttA	p.F97L	CCDC138_ENST00000412964.2_Missense_Mutation_p.F97L|CCDC138_ENST00000470608.1_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	97										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGGATTCTTTCCATGATTTGA	0.284																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(289-291)ttC>ttA		coiled-coil domain containing 138							85	102	97					2																	109408155		2198	4280	6478	SO:0001583	missense	165055							g.chr2:109408155C>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.291C>A	2.37:g.109408155C>A	ENSP00000295124:p.Phe97Leu					CCDC138_ENST00000470608.1_Intron|CCDC138_ENST00000412964.2_Missense_Mutation_p.F97L	p.F97L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			4	351	+			97					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.291C>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767945	0.49680	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.89343	-2.5;-2.5	5.77	2.23	0.28157	.	0.109651	0.41605	D	0.000849	D	0.82921	0.5142	L	0.57536	1.79	0.28993	N	0.887908	B;B	0.11235	0.004;0.004	B;B	0.16722	0.016;0.006	T	0.70364	-0.4892	10	0.30854	T	0.27	-4.7079	4.117	0.10086	0.0:0.2723:0.1735:0.5541	.	97;97	Q96M89-2;Q96M89	.;CC138_HUMAN	L	97	ENSP00000411800:F97L;ENSP00000295124:F97L	ENSP00000295124:F97L	F	+	3	2	CCDC138	108774587	0.060000	0.20803	0.998000	0.56505	0.443000	0.32047	-0.082000	0.11304	0.471000	0.27319	-0.302000	0.09304	TTC		0.284	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		111	162	1	0	3.60366e-59	1	3.9363e-59	111	162					A	109408155	C	A	109408155	3	1	33	1	0	0	0	0	1	0	0	0	2779	854	30	3	305	3	CCDC138	2	109408155	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	2358515	109408155	133791218	10	3870											
GCG	2641	broad.mit.edu	37	chr2	163003928	163003928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggagtccagatacttGctgtagtcactggtgaatgt	12	9	1	2	rs200358995		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:163003928G>A	ENST00000418842.2	-	3	443	c.189C>T	c.(187-189)agC>agT	p.S63S	GCG_ENST00000375497.3_Silent_p.S63S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	63					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)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CCAGATACTTGCTGTAGTCAC	0.488																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(187-189)agC>agT		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						244	242	242					2																	163003928		2027	4193	6220	SO:0001819	synonymous_variant	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.chr2:163003928G>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.189C>T	2.37:g.163003928G>A						GCG_ENST00000375497.3_Silent_p.S63S	p.S63S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			3	443	-			63					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.189C>T	CCDS46439.1																																																																																				0.488	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		97	568	0	0	0	1	0	97	568					A	163003928	G	A	163003928	2	1	33	1	0	0	0	0	0	0	0	1	6318	1310	46	2		2	GCG	2	163003928	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	53595773	163003928	80195445	11	3871											
FN1	2335	broad.mit.edu	37	chr2	216288219	216288219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcacaaggcaccaTtggaatttcctcctcgagtc	11	11	0	0	rs181283286	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:216288219T>C	ENST00000359671.1	-	9	1512	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	FN1_ENST00000354785.4_Missense_Mutation_p.N416S|FN1_ENST00000323926.6_Missense_Mutation_p.N416S|FN1_ENST00000432072.2_Missense_Mutation_p.N416S|FN1_ENST00000346544.3_Missense_Mutation_p.N416S|FN1_ENST00000426059.1_Missense_Mutation_p.N416S|FN1_ENST00000357009.2_Missense_Mutation_p.N416S|FN1_ENST00000356005.4_Missense_Mutation_p.N416S|FN1_ENST00000357867.4_Missense_Mutation_p.N416S|FN1_ENST00000446046.1_Missense_Mutation_p.N416S|FN1_ENST00000443816.1_Missense_Mutation_p.N416S|FN1_ENST00000421182.1_Missense_Mutation_p.N416S|FN1_ENST00000336916.4_Missense_Mutation_p.N416S|FN1_ENST00000345488.5_Missense_Mutation_p.N416S			P02751	FINC_HUMAN	fibronectin 1	416	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAAGGCACCATTGGAATTTCC	0.448													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		17701	0.0		0.0	False		,,,				2504	0.001					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1246-1248)aAt>aGt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117	105	109					2																	216288219		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288219T>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1247A>G	2.37:g.216288219T>C	ENSP00000352696:p.Asn416Ser					FN1_ENST00000443816.1_Missense_Mutation_p.N416S|FN1_ENST00000432072.2_Missense_Mutation_p.N416S|FN1_ENST00000336916.4_Missense_Mutation_p.N416S|FN1_ENST00000426059.1_Missense_Mutation_p.N416S|FN1_ENST00000346544.3_Missense_Mutation_p.N416S|FN1_ENST00000421182.1_Missense_Mutation_p.N416S|FN1_ENST00000359671.1_Missense_Mutation_p.N416S|FN1_ENST00000357867.4_Missense_Mutation_p.N416S|FN1_ENST00000357009.2_Missense_Mutation_p.N416S|FN1_ENST00000323926.6_Missense_Mutation_p.N416S|FN1_ENST00000345488.5_Missense_Mutation_p.N416S|FN1_ENST00000356005.4_Missense_Mutation_p.N416S|FN1_ENST00000446046.1_Missense_Mutation_p.N416S	p.N416S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1616	-		Renal(323;0.127)	416			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1247A>G		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	28.9	4.964117	0.92791	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.15;2.32;0.86;2.38;2.02;2.37;2.02;2.31;2.06;1.55;0.86;1.45;1.47	6.06	6.06	0.98353	.	0.074955	0.53938	D	0.000044	T	0.67979	0.2951	M	0.65975	2.015	0.80722	D	1	D;D;D;P;P;P;D;D;P;P;B	0.76494	0.997;0.98;0.994;0.917;0.917;0.865;0.999;0.981;0.917;0.917;0.006	D;D;D;B;B;B;D;P;B;B;B	0.79784	0.943;0.949;0.971;0.283;0.266;0.136;0.993;0.891;0.266;0.266;0.008	T	0.70368	-0.4891	10	0.72032	D	0.01	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	416;416;416;416;416;416;416;416;416;416;416	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	416	ENSP00000394423:N416S;ENSP00000323534:N416S;ENSP00000338200:N416S;ENSP00000350534:N416S;ENSP00000346839:N416S;ENSP00000352696:N416S;ENSP00000265312:N416S;ENSP00000273049:N416S;ENSP00000349509:N416S;ENSP00000410422:N416S;ENSP00000415018:N416S;ENSP00000399538:N416S;ENSP00000348285:N416S;ENSP00000398907:N416S	ENSP00000265313:N416S	N	-	2	0	FN1	215996464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.324000	0.78689	0.533000	0.62120	AAT		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		36	46	0	0	0	1	0	36	46					C	216288219	T	C	216288219	3	2	33	1	0	0	0	0	1	0	0	0	5987	1493	52	4	6371	4	FN1	2	216288219	Missense_Mutation	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08	53284291	216288219	26911154	12	3872											
ARMC9	80210	broad.mit.edu	37	chr2	232104736	232104736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctggcgcatagtgtggaCttcacgaggcctgggacggt	16	10	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:232104736C>A	ENST00000349938.4	+	9	1055	c.861C>A	c.(859-861)gaC>gaA	p.D287E	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	287						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATAGTGTGGACTTCACGAGGC	0.532																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(859-861)gaC>gaA		armadillo repeat containing 9							69	55	60					2																	232104736		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104736C>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.861C>A	2.37:g.232104736C>A	ENSP00000258417:p.Asp287Glu					ARMC9_ENST00000483477.1_3'UTR	p.D287E	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1055	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	287					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.861C>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759836	0.69763	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T;T	0.50813	0.73;0.73	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.71581	2.175	0.51482	D	0.999927	D	0.54964	0.969	P	0.55303	0.773	T	0.67856	-0.5562	10	0.72032	D	0.01	-14.5309	16.518	0.84306	0.0:1.0:0.0:0.0	.	287	Q7Z3E5	ARMC9_HUMAN	E	287;287;41	ENSP00000258417:D287E;ENSP00000407146:D41E	ENSP00000258417:D287E	D	+	3	2	ARMC9	231812980	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.237000	0.58681	2.309000	0.77851	0.561000	0.74099	GAC		0.532	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	59	1	0	1	1	1	4	59					A	232104736	C	A	232104736	3	1	33	1	0	0	0	0	1	0	0	0	959	564	20	3	891	3	ARMC9	2	232104736	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	15816517	232104736	11094637	13	3873											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtactctttcaggatgCgggctgaagggtctaaggaa	14	6	3	1	rs147577833	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121	122	122					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		8	908	0	0	0	1	0	8	908					T	15115677	C	T	15115677	3	4	33	1	0	0	0	0	1	0	0	0	17719	768	27	1	391	1	ZFYVE20	3	15115677	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08		15115677	182906753	14	3874											
SLC9A9	285195	broad.mit.edu	37	chr3	143551065	143551066	+	Splice_Site	INS	-	-	A													ttagtcccattataaggcctINSaaaaaaaaaagaataaataa					rs373202846|rs537840717	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:143551065_143551066insA	ENST00000316549.6	-	2	384		c.e2-2			NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATAAGGCCTAAAAAAAAAAG	0.347																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.e2-2		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9																																				SO:0001630	splice_region_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143551065_143551066insA	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.176-2->T	3.37:g.143551075_143551075dupA								NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			2	384	-								A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Splice_Site	INS	ENST00000316549.6	37		CCDS33872.1																																																																																				0.347	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	Intron	8	120						8	120	---	---	---	---	A	143551066	-	A	143551065	8	5	33	1	0	1	1	0	0	0	1	0	14771	1536	53	0	1823	0	SLC9A9	3	143551065	Splice_Site	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	128435388	143551065	54471365	15	3875											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				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)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	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.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	483						7	483	---	---	---	---	A	185212518	-	A	185212517	7	5	33	1	0	1	1	0	0	0	0	0	16216	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	41661452	185212517	12809913	16	3876											
PCYT1A	5130	broad.mit.edu	37	chr3	195965646	195965646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtggggaagtcttgccGgagaagggccatcggaaaga	17	7	1	2	rs372804569		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AAGTCTTGCCGGAGAAGGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(1015-1017)tcC>tcT		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)	G		1,4405	2.1+/-5.4	0,1,2202	71	73	72		1017	-1.6	1	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965646G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1017C>T	3.37:g.195965646G>A						PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1189	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		339			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.1017C>T	CCDS3315.1																																																																																				0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		4	209	0	0	0	1	0	4	209					A	195965646	G	A	195965646	2	1	33	1	0	0	0	0	0	0	0	1	11652	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	10753129	195965646	2056784	17	3877											
ZFYVE28	57732	broad.mit.edu	37	chr4	2339217	2339217	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcacaggcaccatggccgaGacgtagctgcaaacacatgg	11	12	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:2339217G>C	ENST00000290974.2	-	5	867	c.528C>G	c.(526-528)gtC>gtG	p.V176V	ZFYVE28_ENST00000503000.1_Silent_p.V176V|ZFYVE28_ENST00000515169.1_Silent_p.V106V|ZFYVE28_ENST00000511071.1_Silent_p.V176V|ZFYVE28_ENST00000515312.1_Silent_p.V106V|ZFYVE28_ENST00000509171.1_Silent_p.V129V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	176					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCATGGCCGAGACGTAGCTGC	0.597																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(526-528)gtC>gtG		zinc finger, FYVE domain containing 28							64	46	52					4																	2339217		2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2339217G>C	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.528C>G	4.37:g.2339217G>C						ZFYVE28_ENST00000509171.1_Silent_p.V129V|ZFYVE28_ENST00000503000.1_Silent_p.V176V|ZFYVE28_ENST00000515312.1_Silent_p.V106V|ZFYVE28_ENST00000515169.1_Silent_p.V106V|ZFYVE28_ENST00000511071.1_Silent_p.V176V	p.V176V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			5	867	-			176					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.528C>G	CCDS33942.1																																																																																				0.597	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		44	185	0	0	0	1	0	44	185					C	2339217	G	C	2339217	2	2	33	1	0	0	0	0	0	0	0	1	17723	929	33	5		5	ZFYVE28	4	2339217	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08		2339217	188815059	18	3878											
C4orf32	132720	broad.mit.edu	37	chr4	113107884	113107884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaccacactggtgagccGgttggagatgactacaagaa	12	9	0	5			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:113107884G>A	ENST00000309733.5	+	2	373	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	63						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		CTGGTGAGCCGGTTGGAGATG	0.353																																						ENST00000309733.4																			0											c.(187-189)ccG>ccA		chromosome 4 open reading frame 32							113	107	109					4																	113107884		2203	4300	6503	SO:0001819	synonymous_variant	132720					integral to membrane		g.chr4:113107884G>A	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.189G>A	4.37:g.113107884G>A							p.P63P	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	373	+		Ovarian(17;0.156)	63					Q49A91|Q4W5C7|Q8TBF9	Silent	SNP	ENST00000309733.5	37	c.189G>A	CCDS3695.1																																																																																				0.353	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		6	654	0	0	0	1	0	6	654					A	113107884	G	A	113107884	2	1	33	1	0	0	0	0	0	0	0	1	2269	1103	39	1		1	C4orf32	4	113107884	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	110768667	113107884	78046392	19	3879											
PCDH10	57575	broad.mit.edu	37	chr4	134072496	134072496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgagctactgggagacGtgcctttccgcctcaagtct	12	12	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:134072496G>A	ENST00000264360.5	+	1	2027	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTGGGAGACGTGCCTTTCCG	0.607																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1201-1203)Gtg>Atg		protocadherin 10							139	140	140					4																	134072496		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072496G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1201G>A	4.37:g.134072496G>A	ENSP00000264360:p.Val401Met						p.V401M	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2027	+			401			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1201G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437720	0.43224	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51817	0.69	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.66973	0.2844	M	0.76574	2.34	0.53005	D	0.999962	D;B	0.61080	0.989;0.321	P;B	0.62184	0.899;0.153	T	0.72097	-0.4393	10	0.72032	D	0.01	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	401;401	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	401	ENSP00000264360:V401M	ENSP00000264360:V401M	V	+	1	0	PCDH10	134291946	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.674000	0.83992	2.423000	0.82170	0.561000	0.74099	GTG		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	1025	0	0	0	1	0	7	1025					A	134072496	G	A	134072496	3	1	33	1	0	0	0	0	1	0	0	0	11549	1145	40	1	1203	1	PCDH10	4	134072496	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	20964612	134072496	57081780	20	3880											
MMAA	166785	broad.mit.edu	37	chr4	146563617	146563619	+	In_Frame_Del	DEL	CTT	CTT	-													atctgtgctagctgtggaccCttcttcttgtactagtggtg							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:146563617_146563619delCTT	ENST00000281317.5	+	3	1752_1754	c.542_544delCTT	c.(541-546)ccttct>cct	p.S183del	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	183					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.P181H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGTGGACCCTTCTTCTTGTAC	0.429																																						ENST00000281317.5																			1	Substitution - Missense(1)	p.P181H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(541-546)cct>c		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001651	inframe_deletion	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146563617_146563619delCTT	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.542_544delCTT	4.37:g.146563623_146563625delCTT	ENSP00000281317:p.Ser183del					MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	p.PS181del	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			3	1752_1754	+	all_hematologic(180;0.151)		181					B3KX40|Q495G7	In_Frame_Del	DEL	ENST00000281317.5	37	c.542_544delCTT	CCDS3766.1																																																																																				0.429	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			280	1191						280	1191	---	---	---	---	-	146563619	CTT	-	146563617	7	5	33	1	0	1	0	1	0	0	0	0	9680	681	24	0	548	0	MMAA	4	146563617	In_Frame_Del	DEL	CTT	TCGA-3A-A9IS-01A-21D-A397-08	12491121	146563617	44590659	21	3881											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			9	97	0	0	0	1	0	9	97					G	149075976	T	G	149075976	2	3	33	1	0	0	0	0	0	0	0	1	10673	1683	59	4		4	NR3C2	4	149075976	Silent	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08	2512359	149075976	42078300	22	3882											
FHDC1	85462	broad.mit.edu	37	chr4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-													tagattttttctgtgaagacAaaaaaaccatgaaactggat							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aaafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1309-1311)aafs		FH2 domain containing 1							98	101	100					4																	153893619		2203	4300	6503	SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893619delA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1309delA	4.37:g.153893619delA	ENSP00000427567:p.Lys438fs					FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs	p.K438fs			Q9C0D6	FHDC1_HUMAN			11	1497	+	all_hematologic(180;0.093)		438			FH2.			Frame_Shift_Del	DEL	ENST00000511601.1	37	c.1309delA	CCDS34081.1																																																																																				0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		8	767						8	767	---	---	---	---	-	153893619	A	-	153893619	7	5	33	1	0	1	0	1	0	0	0	0	5901	131	5	0	1347	0	FHDC1	4	153893619	Frame_Shift_Del	DEL	A	TCGA-3A-A9IS-01A-21D-A397-08	4817643	153893619	37260657	23	3883											
ZDHHC11	79844	broad.mit.edu	37	chr5	848671	848671	+	Frame_Shift_Del	DEL	G	G	-													gatctgtcgaagaggggcatGggctgagaatagttcttcat							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:848671delG	ENST00000283441.8	-	2	710	c.327delC	c.(325-327)cccfs	p.P109fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.P109fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGAGGGGCATGGGCTGAGAAT	0.592																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(325-327)ccfs		zinc finger, DHHC-type containing 11				7,3719		2,3,1858	20	17	18			-5.5	0	5		18	26,6948		5,16,3466	no	frameshift	ZDHHC11	NM_024786.2		7,19,5324	A1A1,A1R,RR		0.3728,0.1879,0.3084			848671	33,10667	2163	4221	6384	SO:0001589	frameshift_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:848671delG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.327delC	5.37:g.848671delG	ENSP00000283441:p.Pro109fs					ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.P109fs	p.P109fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		2	710	-			109					Q6UWR9	Frame_Shift_Del	DEL	ENST00000283441.8	37	c.327delC	CCDS3857.1																																																																																				0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	57						7	57	---	---	---	---	-	848671	G	-	848671	7	5	33	1	0	1	0	1	0	0	0	0	17654	1335	47	0	955	0	ZDHHC11	5	848671	Frame_Shift_Del	DEL	G	TCGA-3A-A9IS-01A-21D-A397-08		848671	180066589	24	3884											
SLC12A7	10723	broad.mit.edu	37	chr5	1065446	1065446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcctgcttccaggatgCgggccaggccatgagcaccg	13	15	0	1	rs200431016	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:1065446C>T	ENST00000264930.5	-	18	2432	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	797					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTCCAGGATGCGGGCCAGGCC	0.657													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2389-2391)Gca>Aca		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						65	65	65					5																	1065446		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065446C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2389G>A	5.37:g.1065446C>T	ENSP00000264930:p.Ala797Thr						p.A797T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2432	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		797					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2389G>A	CCDS34129.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	3.750|3.750	-0.051821|-0.051821	0.07362|0.07362	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.82344|.	-1.6|.	4.49|4.49	1.33|1.33	0.21861|0.21861	.|.	0.889086|.	0.09985|.	N|.	0.730476|.	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.16166|0.16166	0.38|0.38	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.20519|.	T|.	0.43|.	.|.	14.53|14.53	0.67917|0.67917	0.0:0.3303:0.6696:0.0|0.0:0.3303:0.6696:0.0	.|.	797|.	Q9Y666|.	S12A7_HUMAN|.	T|H	797|154	ENSP00000264930:A797T|.	ENSP00000264930:A797T|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1118446|1118446	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.550000|0.550000	0.35303|0.35303	-0.024000|-0.024000	0.12435|0.12435	0.298000|0.298000	0.22638|0.22638	0.467000|0.467000	0.42956|0.42956	GCA|CGC		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		7	518	0	0	0	1	0	7	518					T	1065446	C	T	1065446	3	4	33	1	0	0	0	0	1	0	0	0	14438	768	27	1	890	1	SLC12A7	5	1065446	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	216775	1065446	179849814	25	3885											
NDUFS6	4726	broad.mit.edu	37	chr5	1814533	1814533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgatagcgtgcgatggCggcgggggagctcttggcca	20	9	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:1814533C>T	ENST00000274137.5	+	3	285	c.267C>T	c.(265-267)ggC>ggT	p.G89G	NDUFS6_ENST00000469176.1_Silent_p.G89G	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	89					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CGTGCGATGGCGGCGGGGGAG	0.542																																						ENST00000274137.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(265-267)ggC>ggT		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						103	96	98					5																	1814533		2203	4300	6503	SO:0001819	synonymous_variant	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1814533C>T	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7713	protein-coding gene	gene with protein product	"complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"	603848	"NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.267C>T	5.37:g.1814533C>T						NDUFS6_ENST00000469176.1_Silent_p.G89G	p.G89G	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			3	285	+			89						Silent	SNP	ENST00000274137.5	37	c.267C>T	CCDS3866.1																																																																																				0.542	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		5	504	0	0	0	1	0	5	504					T	1814533	C	T	1814533	2	4	33	1	0	0	0	0	0	0	0	1	10338	755	27	1		1	NDUFS6	5	1814533	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	749087	1814533	179100727	26	3886											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			5	236	0	0	0	1	0	5	236					T	32407029	A	T	32407029	2	4	33	1	0	0	0	0	0	0	0	1	17712	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-3A-A9IS-01A-21D-A397-08	30592496	32407029	148508231	27	3887											
PGGT1B	5229	broad.mit.edu	37	chr5	114548273	114548273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatcccaaagtatgcatgCaaagcatctgaaaagaaggc	9	9	1	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:114548273C>G	ENST00000419445.1	-	9	980	c.960G>C	c.(958-960)ttG>ttC	p.L320F	PGGT1B_ENST00000379615.3_Missense_Mutation_p.L243F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	320					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		AGTATGCATGCAAAGCATCTG	0.403																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(958-960)ttG>ttC		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						95	86	89					5																	114548273		2202	4300	6502	SO:0001583	missense	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114548273C>G		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.960G>C	5.37:g.114548273C>G	ENSP00000404676:p.Leu320Phe					PGGT1B_ENST00000379615.3_Missense_Mutation_p.L243F	p.L320F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	9	980	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	320					Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	37	c.960G>C	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249724	0.39797	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.47177	0.85;0.85	5.53	3.71	0.42584	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.01202	-0.96	0.34745	D	0.731156	D;P	0.89917	1.0;0.891	D;P	0.74348	0.983;0.671	T	0.40572	-0.9556	10	0.18276	T	0.48	-13.6311	6.4226	0.21752	0.1277:0.6509:0.0:0.2214	.	243;320	P53609-2;P53609	.;PGTB1_HUMAN	F	320;243	ENSP00000404676:L320F;ENSP00000368935:L243F	ENSP00000368935:L243F	L	-	3	2	PGGT1B	114576172	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.496000	0.22499	0.664000	0.31047	0.585000	0.79938	TTG		0.403	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		76	286	0	0	0	1	0	76	286					G	114548273	C	G	114548273	3	3	33	1	0	0	0	0	1	0	0	0	11831	709	25	5	177	5	PGGT1B	5	114548273	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	82141244	114548273	66366987	28	3888											
SRFBP1	153443	broad.mit.edu	37	chr5	121356407	121356407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaactcatggggataCaagaaatgacaaaatcaagc	10	6	2	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:121356407C>A	ENST00000339397.4	+	6	1049	c.977C>A	c.(976-978)aCa>aAa	p.T326K	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 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)		CATGGGGATACAAGAAATGAC	0.348																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(976-978)aCa>aAa		serum response factor binding protein 1							64	59	60					5																	121356407		1833	4089	5922	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356407C>A	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.977C>A	5.37:g.121356407C>A	ENSP00000341324:p.Thr326Lys					SRFBP1_ENST00000504881.1_3'UTR	p.T326K	NM_152546.2	NP_689759.2	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	1049	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	326						Missense_Mutation	SNP	ENST00000339397.4	37	c.977C>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.919086	0.17982	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.33	-6.38	0.01957	.	1.777880	0.02334	N	0.074255	T	0.27832	0.0685	N	0.22421	0.69	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.32798	-0.9893	9	0.51188	T	0.08	2.5989	9.3711	0.38254	0.0:0.3854:0.4605:0.154	.	326	Q8NEF9	SRFB1_HUMAN	K	326	.	ENSP00000341324:T326K	T	+	2	0	SRFBP1	121384306	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.075000	0.11431	-0.852000	0.04141	-0.471000	0.05019	ACA		0.348	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		121	116	1	0	3.41453e-61	1	3.75863e-61	121	116					A	121356407	C	A	121356407	3	1	33	1	0	0	0	0	1	0	0	0	15196	478	17	3	999	3	SRFBP1	5	121356407	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	6808134	121356407	59558853	29	3889											
FBN2	2201	broad.mit.edu	37	chr5	127744367	127744367	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaaatgcgaggcttacCgatgcatcgagagccatctg	10	11	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:127744367C>T	ENST00000508053.1	-	14	2052	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	FBN2_ENST00000508989.1_Splice_Site_p.D327N|FBN2_ENST00000262464.4_Splice_Site_p.D360N			P35556	FBN2_HUMAN	fibrillin 2	360					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)		CGAGGCTTACCGATGCATCGA	0.413																																						ENST00000508053.1																			0				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						c.e14+1		fibrillin 2							110	97	101					5																	127744367		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127744367C>T	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.1078+1G>A	5.37:g.127744367C>T						FBN2_ENST00000508989.1_Splice_Site_p.D327_splice|FBN2_ENST00000262464.4_Splice_Site_p.D360_splice	p.D360_splice			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)	14	2052	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	360					B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.1078_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309040	0.60414	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94184	-2.21;-2.21;-3.37	4.89	4.89	0.63831	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.97148	0.9068	M	0.89163	3.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.97437	1.0019	9	.	.	.	.	18.5162	0.90936	0.0:1.0:0.0:0.0	.	327;360	D6RJI3;P35556	.;FBN2_HUMAN	N	360;360;327	ENSP00000262464:D360N;ENSP00000424571:D360N;ENSP00000425596:D327N	.	D	-	1	0	FBN2	127772266	1.000000	0.71417	0.994000	0.49952	0.540000	0.34992	7.009000	0.76347	2.647000	0.89833	0.555000	0.69702	GAT		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Missense_Mutation	95	354	0	0	0	1	0	95	354					T	127744367	C	T	127744367	5	4	33	1	0	0	0	0	0	0	1	0	5728	666	23	1	7892	1	FBN2	5	127744367	Splice_Site	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	6387960	127744367	53170893	30	3890											
VDAC1	7416	broad.mit.edu	37	chr5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-													accctgtcttgattttagcaTtttttttcctgaaggaaaat							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)aatfs	p.N111fs	VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(331-333)atfs		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						51	56	54					5																	133316639		2203	4300	6503	SO:0001589	frameshift_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316639delT		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.332delA	5.37:g.133316639delT	ENSP00000265333:p.Asn111fs					VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	576	-			111					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Frame_Shift_Del	DEL	ENST00000265333.3	37	c.332delA	CCDS4168.1																																																																																				0.403	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			7	408						7	408	---	---	---	---	-	133316639	T	-	133316639	7	5	33	1	0	1	0	1	0	0	0	0	17200	1493	52	0	535	0	VDAC1	5	133316639	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	5572272	133316639	47598621	31	3891											
FAM53C	51307	broad.mit.edu	37	chr5	137681216	137681216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccttgtgatctggatgCccgcaaaactggggtcaagc	12	11	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:137681216C>T	ENST00000239906.5	+	4	1267	c.839C>T	c.(838-840)gCc>gTc	p.A280V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.P90S|FAM53C_ENST00000434981.2_Missense_Mutation_p.A280V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	280										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATCTGGATGCCCGCAAAACT	0.632																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(838-840)gCc>gTc		family with sequence similarity 53, member C							48	58	54					5																	137681216		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681216C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.839C>T	5.37:g.137681216C>T	ENSP00000239906:p.Ala280Val					FAM53C_ENST00000434981.2_Missense_Mutation_p.A280V|FAM53C_ENST00000513056.1_Missense_Mutation_p.P90S	p.A280V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1267	+			280					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.839C>T	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.141207|2.141207	0.37825|0.37825	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.44482|0.52983	0.92;0.92|0.64	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.213735|.	0.41194|.	D|.	0.000924|.	T|T	0.50343|0.50343	0.1610|0.1610	L|L	0.36672|0.36672	1.1|1.1	0.26239|0.26239	N|N	0.978896|0.978896	P|P	0.41450|0.46142	0.75|0.873	B|P	0.33690|0.47346	0.168|0.544	T|T	0.50406|0.50406	-0.8832|-0.8832	10|9	0.54805|0.87932	T|D	0.06|0	-6.9182|-6.9182	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280|90	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|S	280|90	ENSP00000403705:A280V;ENSP00000239906:A280V|ENSP00000425154:P90S	ENSP00000239906:A280V|ENSP00000425154:P90S	A|P	+|+	2|1	0|0	FAM53C|FAM53C	137709115|137709115	0.858000|0.858000	0.29795|0.29795	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.468000|1.468000	0.35332|0.35332	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.632	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		6	714	0	0	0	1	0	6	714					T	137681216	C	T	137681216	3	4	33	1	0	0	0	0	1	0	0	0	5606	739	26	2	849	2	FAM53C	5	137681216	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	4364577	137681216	43234044	32	3892											
ZNF322A	79692	broad.mit.edu	37	chr6	26637624	26637624	+	Frame_Shift_Del	DEL	T	T	-													ggagggctaagctcaagaccTttttcactcacattacagac							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:26637624delT	ENST00000415922.2	-	4	1803	c.1158delA	c.(1156-1158)aaafs	p.K386fs	ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTCAAGACCTTTTTCACTCA	0.413																																						ENST00000415922.2																			0											c.(1156-1158)aafs		zinc finger protein 322							175	133	147					6																	26637624		2201	4298	6499	SO:0001589	frameshift_variant	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637624delT	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1158delA	6.37:g.26637624delT	ENSP00000418897:p.Lys386fs					ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs	p.K386fs	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1803	-			386					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Frame_Shift_Del	DEL	ENST00000415922.2	37	c.1158delA	CCDS4617.1																																																																																				0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		7	1380						7	1380	---	---	---	---	-	26637624	T	-	26637624	7	5	33	1	0	1	0	1	0	0	0	0	17894	1606	56	0	54	0	ZNF322A	6	26637624	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08		26637624	144477443	33	3893											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	138	0	0	0	1	0	4	138					T	33287900	C	T	33287900	2	4	33	1	0	0	0	0	0	0	0	1	4254	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	6650276	33287900	137827167	34	3894											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	347						7	347	---	---	---	---	A	80751897	-	A	80751896	7	5	33	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	47463996	80751896	90363171	35	3895											
RNF216	54476	broad.mit.edu	37	chr7	5754712	5754712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaagactgcctcttggGcatatctgatgagacactct	8	11	3	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:5754712G>A	ENST00000425013.2	-	11	1858	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	RNF216_ENST00000389902.3_Missense_Mutation_p.A602V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCTTGGGCATATCTGAT	0.463																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1633-1635)gCc>gTc		ring finger protein 216							170	155	160					7																	5754712		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5754712G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1634C>T	7.37:g.5754712G>A	ENSP00000404602:p.Ala545Val					RNF216_ENST00000389902.3_Missense_Mutation_p.A602V	p.A545V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	11	1858	-		Ovarian(82;0.07)	545					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1634C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133024	0.94517	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	.	0.057971	0.64402	D	0.000001	T	0.42245	0.1194	N	0.20845	0.615	0.80722	D	1	B;D	0.76494	0.302;0.999	B;D	0.73708	0.162;0.981	T	0.17289	-1.0374	10	0.33940	T	0.23	-12.4821	19.1965	0.93691	0.0:0.0:1.0:0.0	.	545;602	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	V	545;602;357	ENSP00000404602:A545V;ENSP00000374552:A602V	ENSP00000374552:A602V	A	-	2	0	RNF216	5721238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	2.774000	0.95407	0.650000	0.86243	GCC		0.463	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		6	697	0	0	0	1	0	6	697					A	5754712	G	A	5754712	3	1	33	1	0	0	0	0	1	0	0	0	13530	1203	42	2	994	2	RNF216	7	5754712	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08		5754712	153383951	36	3896											
STEAP2	261729	broad.mit.edu	37	chr7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-													tagctataagcttggccacaTtttttttcctttattccttt							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108	103	105					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		7	636						7	636	---	---	---	---	-	89856465	T	-	89856465	7	5	33	1	0	1	0	1	0	0	0	0	15330	1493	52	0	679	0	STEAP2	7	89856465	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	84101753	89856465	69282198	37	3897											
SAMD9L	219285	broad.mit.edu	37	chr7	92760737	92760738	+	Frame_Shift_Ins	INS	-	-	T													gcaggaggtctttgacttcaINSttttttttccacacatcccc					rs10282508	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:92760737_92760738insT	ENST00000318238.4	-	5	5763_5764	c.4547_4548insA	c.(4546-4548)aatfs	p.N1516fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.N1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).		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)				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)			CTTTGACTTCATTTTTTTTCCA	0.391																																						ENST00000318238.4																			0				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						c.(4546-4548)agafs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760737_92760738insT	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.4548dupA	7.37:g.92760745_92760745dupT	ENSP00000326247:p.Asn1516fs					SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs	p.R1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5763_5764	-	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)		1516		N -> T (in dbSNP:rs10282508).			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4547_4548insA	CCDS34681.1																																																																																				0.391	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		8	677						8	677	---	---	---	---	T	92760738	-	T	92760737	7	5	33	1	0	1	1	0	0	0	0	0	13877	214	8	0	210	0	SAMD9L	7	92760737	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	2904272	92760737	66377926	38	3898											
MLL5	55904	broad.mit.edu	37	chr7	104747966	104747966	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagaaaaggaacctgtgtCagaccttcagctaggactcg	12	9	2	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:104747966C>T	ENST00000311117.3	+	22	3607	c.3062C>T	c.(3061-3063)tCa>tTa	p.S1021L	KMT2E_ENST00000334914.7_Missense_Mutation_p.S76L|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1021L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1021L|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1021					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAACCTGTGTCAGACCTTCAG	0.507																																						ENST00000334877.4																			0											c.(3061-3063)tCa>tTa		lysine (K)-specific methyltransferase 2E							97	97	97					7																	104747966		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104747966C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3062C>T	7.37:g.104747966C>T	ENSP00000312379:p.Ser1021Leu					KMT2E_ENST00000257745.4_Missense_Mutation_p.S1021L|KMT2E_ENST00000334914.7_Missense_Mutation_p.S76L|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1021L	p.S1021L							22	3596	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3062C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558645	0.65538	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.93019	-3.15;-2.67;-3.15;0.46	6.03	6.03	0.97812	.	0.431841	0.22027	N	0.065650	D	0.89083	0.6614	L	0.27053	0.805	0.47476	D	0.999435	P	0.43094	0.799	B	0.35039	0.194	D	0.90033	0.4136	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1021	Q8IZD2	MLL5_HUMAN	L	1021;1021;1021;941;1021;76	ENSP00000312379:S1021L;ENSP00000335599:S1021L;ENSP00000257745:S1021L;ENSP00000333986:S76L	ENSP00000257745:S1021L	S	+	2	0	MLL5	104535202	1.000000	0.71417	0.989000	0.46669	0.673000	0.39480	5.764000	0.68826	2.854000	0.98071	0.655000	0.94253	TCA		0.507	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			104	238	0	0	0	1	0	104	238					T	104747966	C	T	104747966	3	4	33	1	0	0	0	0	1	0	0	0	9665	838	29	2	3140	2	MLL5	7	104747966	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	11987229	104747966	54390697	39	3899											
SND1	27044	broad.mit.edu	37	chr7	127732106	127732106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgaatttggctacagccGctaaggaggggatcgggttt	15	7	0	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:127732106G>A	ENST00000354725.3	+	24	2923	c.2729G>A	c.(2728-2730)cGc>cAc	p.R910H		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	910					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGCTACAGCCGCTAAGGAGGG	0.557																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2728-2730)cGc>cAc		staphylococcal nuclease and tudor domain containing 1							95	98	97					7																	127732106		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127732106G>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2729G>A	7.37:g.127732106G>A	ENSP00000346762:p.Arg910His						p.R910H	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			24	2923	+			910					Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2729G>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701550	0.88924	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34472	1.36	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.55990	1.75	0.50467	D	0.99987	D	0.89917	1.0	D	0.68621	0.959	T	0.55373	-0.8151	10	0.72032	D	0.01	.	13.9031	0.63817	0.0:0.0:1.0:0.0	.	910	Q7KZF4	SND1_HUMAN	H	910;900	ENSP00000346762:R910H	ENSP00000346762:R910H	R	+	2	0	SND1	127519342	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.395000	0.79876	2.418000	0.82041	0.455000	0.32223	CGC		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		6	556	0	0	0	1	0	6	556					A	127732106	G	A	127732106	3	1	33	1	0	0	0	0	1	0	0	0	14894	1087	38	1	2823	1	SND1	7	127732106	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	22984140	127732106	31406557	40	3900											
UBN2	254048	broad.mit.edu	37	chr7	138944016	138944016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttatcattttgcaggtcCccaaaataaaagaagatgat	6	7	1	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:138944016C>T	ENST00000473989.3	+	5	805	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	UBN2_ENST00000288561.8_Missense_Mutation_p.P186S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	269	Lys-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTTGCAGGTCCCCAAAATAAA	0.383																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(556-558)Ccc>Tcc		ubinuclein 2							89	93	91					7																	138944016		1831	4088	5919	SO:0001583	missense	254048							g.chr7:138944016C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.805C>T	7.37:g.138944016C>T	ENSP00000418648:p.Pro269Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.P269S	p.P186S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			5	805	+			269					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.556C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.461154	0.01062	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T;T	0.20598	2.06;2.06;2.06	5.34	3.33	0.38152	.	0.684498	0.15499	N	0.259112	T	0.07548	0.0190	N	0.02802	-0.49	0.27338	N	0.956584	B	0.02656	0.0	B	0.04013	0.001	T	0.31110	-0.9955	10	0.22706	T	0.39	-0.0601	5.2112	0.15318	0.0:0.5827:0.1938:0.2235	.	269	Q6ZU65	UBN2_HUMAN	S	92;269;186	ENSP00000417849:P92S;ENSP00000418648:P269S;ENSP00000288561:P186S	ENSP00000288561:P186S	P	+	1	0	UBN2	138594556	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	1.125000	0.31332	0.859000	0.35456	0.650000	0.86243	CCC		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		59	162	0	0	0	1	0	59	162					T	138944016	C	T	138944016	3	4	33	1	0	0	0	0	1	0	0	0	16947	623	22	2	823	2	UBN2	7	138944016	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	11211910	138944016	20194647	41	3901											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	444						8	444	---	---	---	---	-	30945379	AAG	-	30945377	7	5	33	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-3A-A9IS-01A-21D-A397-08		30945377	115418645	42	3902											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	146	0	0	0	1	0	11	146					G	41790659	T	G	41790659	2	3	33	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08	10845282	41790659	104573363	43	3903											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1351						8	1351	---	---	---	---	-	105440214	T	-	105440214	7	5	33	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	63649555	105440214	40923808	44	3904											
PLIN2	123	broad.mit.edu	37	chr9	19119813	19119813	+	Frame_Shift_Del	DEL	T	T	-													accagatcaaatccttcaacTttttttgcttctttttctga							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:19119813delT	ENST00000276914.2	-	6	791	c.612delA	c.(610-612)aaafs	p.K204fs	PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	204					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						ATCCTTCAACTTTTTTTGCTT	0.428																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(610-612)aafs		perilipin 2							112	120	117					9																	19119813		2203	4300	6503	SO:0001589	frameshift_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19119813delT	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.612delA	9.37:g.19119813delT	ENSP00000276914:p.Lys204fs					PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs	p.K204fs	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			6	791	-			204					Q9BSC3	Frame_Shift_Del	DEL	ENST00000276914.2	37	c.612delA	CCDS6490.1																																																																																				0.428	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		9	558						9	558	---	---	---	---	-	19119813	T	-	19119813	7	5	33	1	0	1	0	1	0	0	0	0	12132	1606	56	0	713	0	PLIN2	9	19119813	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08		19119813	122093618	45	3905											
TLN1	7094	broad.mit.edu	37	chr9	35706336	35706336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagccagggtgagcgGctcaaagtactgcgccatct	12	13	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:35706336G>A	ENST00000314888.9	-	40	5571	c.5218C>T	c.(5218-5220)Ccg>Tcg	p.P1740S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.P1724S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1740	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTGAGCGGCTCAAAGTAC	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5218-5220)Ccg>Tcg		talin 1							74	78	77					9																	35706336		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706336G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5218C>T	9.37:g.35706336G>A	ENSP00000316029:p.Pro1740Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.P1724S|TLN1_ENST00000464379.1_Intron	p.P1740S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		40	5571	-	all_epithelial(49;0.167)		1740			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5218C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556415	0.86231	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.12672	2.66;2.66	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.56396	1.775	0.80722	D	1	P	0.51147	0.942	P	0.50352	0.638	T	0.00435	-1.1741	10	0.38643	T	0.18	-12.3641	18.736	0.91755	0.0:0.0:1.0:0.0	.	1740	Q9Y490	TLN1_HUMAN	S	1740;1724	ENSP00000316029:P1740S;ENSP00000442981:P1724S	ENSP00000316029:P1740S	P	-	1	0	TLN1	35696336	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.512000	0.84698	0.555000	0.69702	CCG		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		5	449	0	0	0	1	0	5	449					A	35706336	G	A	35706336	3	1	33	1	0	0	0	0	1	0	0	0	15999	1203	42	2	2479	2	TLN1	9	35706336	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	16586523	35706336	105507095	46	3906											
PPP3R2	116443	broad.mit.edu	37	chr9	104356877	104356877	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctggaagagctccccGttggaaatgtagccatcttt	10	11	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:104356877G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N112N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCTCCCCGTTGGAAATGT	0.542																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(334-336)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						133	121	125					9																	104356877		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356877G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15235C>T	9.37:g.104356877G>A						GRIN3A_ENST00000361820.3_Intron	p.N112N	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	406	-		Acute lymphoblastic leukemia(62;0.0527)	109			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.336C>T	CCDS6758.1																																																																																				0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			8	554	0	0	0	1	0	8	554					A	104356877	G	A	104356877	1	1	33	0	1	0	0	0	0	0	0	0	12448	1136	40	1		1	PPP3R2	9	104356877	Intron	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	68650541	104356877	36856554	47	3907											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggcgcctggttcatgCggaacacgcactcggcactg	15	13	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(304-306)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							44	40	41					9																	130674853		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674853C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.305G>A	9.37:g.130674853C>T	ENSP00000336733:p.Arg102His					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	p.R102H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	580	-			102					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.305G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC		0.677	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		4	220	0	0	0	1	0	4	220					T	130674853	C	T	130674853	3	4	33	1	0	0	0	0	1	0	0	0	15278	768	27	1	615	1	ST6GALNAC4	9	130674853	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	26317976	130674853	10538578	48	3908											
GTF3C4	9329	broad.mit.edu	37	chr9	135554771	135554771	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattttatatcagtcaatgCagaaaaccccttcagaagcc	7	10	3	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:135554771C>T	ENST00000372146.4	+	2	2329	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	589					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCAGTCAATGCAGAAAACCCC	0.418																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(1765-1767)Cag>Tag		general transcription factor IIIC, polypeptide 4, 90kDa							142	162	156					9																	135554771		2203	4300	6503	SO:0001587	stop_gained	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554771C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1765C>T	9.37:g.135554771C>T	ENSP00000361219:p.Gln589*						p.Q589*	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	2329	+			589					Q5VZJ7	Nonsense_Mutation	SNP	ENST00000372146.4	37	c.1765C>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	C	44	10.580197	0.99431	.	.	ENSG00000125484	ENST00000372146	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-27.6979	18.8744	0.92328	0.0:1.0:0.0:0.0	.	.	.	.	X	589	.	ENSP00000361219:Q589X	Q	+	1	0	GTF3C4	134544592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.813000	0.96785	0.655000	0.94253	CAG		0.418	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			197	600	0	0	0	1	0	197	600					T	135554771	C	T	135554771	4	4	33	1	0	0	0	0	0	1	0	0	6905	711	25	2	1771	2	GTF3C4	9	135554771	Nonsense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	4879918	135554771	5658660	49	3909											
SURF6	6838	broad.mit.edu	37	chr9	136199557	136199557	+	Frame_Shift_Del	DEL	T	T	-													ttcctgctttctccgccgccTtttctccaaggcggcagggg							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:136199557delT	ENST00000372022.4	-	4	698	c.433delA	c.(433-435)aggfs	p.R148fs	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	148					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTCCGCCGCCTTTTCTCCAAG	0.632																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(433-435)ggfs		surfeit 6							72	80	77					9																	136199557		2203	4300	6503	SO:0001589	frameshift_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199557delT	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.433delA	9.37:g.136199557delT	ENSP00000361092:p.Arg148fs					SURF6_ENST00000468290.1_5'UTR	p.R148fs	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	4	698	-			148					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Frame_Shift_Del	DEL	ENST00000372022.4	37	c.433delA	CCDS6962.1																																																																																				0.632	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		8	915						8	915	---	---	---	---	-	136199557	T	-	136199557	7	5	33	1	0	1	0	1	0	0	0	0	15458	1608	56	0	660	0	SURF6	9	136199557	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	644786	136199557	5013874	50	3910											
WDR5	11091	broad.mit.edu	37	chr9	137017152	137017152	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgaagacgctcatcgGtgagtgtggctctgtgtggg	17	8	2	3	rs112881246		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:137017152G>A	ENST00000358625.3	+	9	802		c.e9+1		WDR5_ENST00000425041.1_Splice_Site	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACGCTCATCGGTGAGTGTGGC	0.592																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.e9+1		WD repeat domain 5							138	138	138					9																	137017152		2203	4300	6503	SO:0001630	splice_region_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137017152G>A	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.631+1G>A	9.37:g.137017152G>A						WDR5_ENST00000425041.1_Splice_Site		NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	9	802	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)						Q91VA5|Q9NWX7|Q9UGP9	Splice_Site	SNP	ENST00000358625.3	37		CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119807	0.77323	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4966	0.67691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR5	136006973	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.727000	0.91480	1.811000	0.52892	0.462000	0.41574	.		0.592	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821	Intron	209	498	0	0	0	1	0	209	498					A	137017152	G	A	137017152	5	1	33	1	0	0	0	0	0	0	1	0	17357	1275	44	2	662	2	WDR5	9	137017152	Splice_Site	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	817595	137017152	4196279	51	3911											
KCNT1	57582	broad.mit.edu	37	chr9	138649158	138649158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagatcttctggccgccGctgcggaacctgttcatccc	9	16	4	1	rs565506288	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:138649158G>A	ENST00000263604.3	+	9	633	c.633G>A	c.(631-633)ccG>ccA	p.P211P	KCNT1_ENST00000298480.5_Silent_p.P230P|KCNT1_ENST00000488444.2_Silent_p.P211P|KCNT1_ENST00000371757.2_Silent_p.P230P|KCNT1_ENST00000490355.2_Silent_p.P211P|KCNT1_ENST00000487664.1_Silent_p.P182P|KCNT1_ENST00000486577.2_Silent_p.P191P|KCNT1_ENST00000491806.2_Silent_p.P197P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	211					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTGGCCGCCGCTGCGGAACC	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		10401	0.0		0.0	False		,,,				2504	0.002					ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(688-690)ccG>ccA		potassium channel, subfamily T, member 1							50	57	55					9																	138649158		2203	4299	6502	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138649158G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.633G>A	9.37:g.138649158G>A						KCNT1_ENST00000371757.2_Silent_p.P230P|KCNT1_ENST00000486577.2_Silent_p.P191P|KCNT1_ENST00000491806.2_Silent_p.P197P|KCNT1_ENST00000487664.1_Silent_p.P182P|KCNT1_ENST00000263604.3_Silent_p.P211P|KCNT1_ENST00000490355.2_Silent_p.P211P|KCNT1_ENST00000488444.2_Silent_p.P211P	p.P230P			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	9	764	+		Myeloproliferative disorder(178;0.0821)	230					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.690G>A																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		152	307	0	0	0	1	0	152	307					A	138649158	G	A	138649158	2	1	33	1	0	0	0	0	0	0	0	1	8121	1074	38	1		1	KCNT1	9	138649158	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	1632006	138649158	2564273	52	3912											
BMS1	9790	broad.mit.edu	37	chr10	43316118	43316118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccccacagcacatgcatTgcggagcagccttttggggt	11	12	0	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:43316118T>C	ENST00000374518.5	+	17	2995	c.2932T>C	c.(2932-2934)Tgc>Cgc	p.C978R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	978					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.C978R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCACATGCATTGCGGAGCAGC	0.423																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.C978R(1)	kidney(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2932-2934)Tgc>Cgc		BMS1 ribosome biogenesis factor							44	47	46					10																	43316118		2171	4293	6464	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316118T>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2932T>C	10.37:g.43316118T>C	ENSP00000363642:p.Cys978Arg						p.C978R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			17	2995	+			978					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2932T>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799775	0.70567	.	.	ENSG00000165733	ENST00000374518	T	0.18502	2.21	4.97	4.97	0.65823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66870	-0.5814	10	0.87932	D	0	.	14.9915	0.71393	0.0:0.0:0.0:1.0	.	978	Q14692	BMS1_HUMAN	R	978	ENSP00000363642:C978R	ENSP00000363642:C978R	C	+	1	0	BMS1	42636124	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.602000	0.82796	1.999000	0.58509	0.373000	0.22412	TGC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	238	0	0	0	1	0	4	238					C	43316118	T	C	43316118	3	2	33	1	0	0	0	0	1	0	0	0	1474	1812	63	4	2994	4	BMS1	10	43316118	Missense_Mutation	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08		43316118	92218629	53	3913											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062116	116062116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagagagagtttttggccGcactcacaatacaggagacc	10	10	1	3	rs368717763		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:116062116G>A	ENST00000304129.4	-	12	1441	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A471V|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	471					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTTTTTGGCCGCACTCACAAT	0.542																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1411-1413)gCg>gTg		actin filament associated protein 1-like 2		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	153	169	163		1412,1412	5.7	0.4	10		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	471/819,471/815	116062116	1,13005	2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062116G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1412C>T	10.37:g.116062116G>A	ENSP00000303042:p.Ala471Val					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A471V	p.A471V	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1712	-		Colorectal(252;0.175)|Breast(234;0.231)	471					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1412C>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612527	0.87258	0.0	1.16E-4	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.33865	1.39;1.39;1.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.76002	2.32	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.998;0.996;0.999;0.998	T	0.63386	-0.6649	10	0.54805	T	0.06	-28.8947	19.773	0.96379	0.0:0.0:1.0:0.0	.	524;37;525;499;471;471	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	V	471;471;498;524	ENSP00000358276:A471V;ENSP00000303042:A471V;ENSP00000444511:A524V	ENSP00000303042:A471V	A	-	2	0	AFAP1L2	116052106	1.000000	0.71417	0.367000	0.25926	0.988000	0.76386	7.599000	0.82757	2.677000	0.91161	0.655000	0.94253	GCG		0.542	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		5	557	0	0	0	1	0	5	557					A	116062116	G	A	116062116	3	1	33	1	0	0	0	0	1	0	0	0	355	1087	38	1	1076	1	AFAP1L2	10	116062116	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	72745998	116062116	19472631	54	3914											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggggtccaagggggGctgtggctcctgtggggggt	23	7	0	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G138A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(412-414)gGc>gCc		keratin associated protein 5-5							13	19	17					11																	1651483		2129	4198	6327	SO:0001583	missense	439915					keratin filament		g.chr11:1651483G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.413G>C	11.37:g.1651483G>C	ENSP00000382584:p.Gly138Ala						p.G138A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	451	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	138			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.413G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.606108	0.00121	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01203	5.18	3.03	2.11	0.27256	.	.	.	.	.	T	0.01695	0.0054	M	0.82823	2.61	0.22601	N	0.998945	B	0.25667	0.131	B	0.19666	0.026	T	0.52366	-0.8585	9	0.02654	T	1	.	6.1318	0.20209	0.1478:0.0:0.8522:0.0	.	138	Q701N2	KRA55_HUMAN	A	138;109	ENSP00000382584:G138A	ENSP00000382584:G138A	G	+	2	0	KRTAP5-5	1608059	1.000000	0.71417	0.411000	0.26484	0.028000	0.11728	2.598000	0.46223	0.497000	0.27926	-0.360000	0.07572	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			5	127	0	0	0	1	0	5	127					C	1651483	G	C	1651483	3	2	33	1	0	0	0	0	1	0	0	0	8595	1203	42	5	415	5	KRTAP5-5	11	1651483	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08		1651483	133355033	55	3915											
GALNTL4	374378	broad.mit.edu	37	chr11	11354301	11354301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtacacgctgaccaggtaCcaccggaaggtcttgcactg	13	12	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:11354301C>A	ENST00000227756.4	-	8	1767	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	452					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGACCAGGTACCACCGGAAGG	0.542																																						ENST00000227756.4																			0											c.(1354-1356)tgG>tgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							123	96	105					11																	11354301		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11354301C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1356G>T	11.37:g.11354301C>A	ENSP00000227756:p.Trp452Cys						p.W452C	NM_198516.2	NP_940918.2					8	1767	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1356G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430237	0.83776	.	.	ENSG00000110328	ENST00000227756	D	0.92446	-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	H	0.98487	4.245	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99320	1.0906	10	0.87932	D	0	.	18.0372	0.89308	0.0:1.0:0.0:0.0	.	452	Q6P9A2	GLTL4_HUMAN	C	452	ENSP00000227756:W452C	ENSP00000227756:W452C	W	-	3	0	GALNTL4	11310877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.609000	0.88269	0.655000	0.94253	TGG		0.542	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		94	92	1	0	2.0191e-50	1	2.18864e-50	94	92					A	11354301	C	A	11354301	3	1	33	1	0	0	0	0	1	0	0	0	6251	508	18	3	483	3	GALNTL4	11	11354301	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	9702818	11354301	123652215	56	3916											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	8	11	3	0	rs370741711		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000525629.1_5'UTR	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	205	0	0	0	1	0	4	205					T	49186293	C	T	49186293	2	4	33	1	0	0	0	0	0	0	0	1	6004	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	37831992	49186293	85820223	57	3917											
AHNAK	79026	broad.mit.edu	37	chr11	62295897	62295897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgactttggggcctttcaGgtgtaagtccacatcaggca	11	9	2	1	rs574331119		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:62295897G>A	ENST00000378024.4	-	5	6266	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1998					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L1998L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTTCAGGTGTAAGTCC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23967	0.0		0.0	False		,,,				2504	0.0					ENST00000378024.4																			1	Substitution - coding silent(1)	p.L1998L(1)	endometrium(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5992-5994)Ctg>Ttg		AHNAK nucleoprotein							333	337	336					11																	62295897		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295897G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5992C>T	11.37:g.62295897G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L1998L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6266	-		Melanoma(852;0.155)	1998					A1A586	Silent	SNP	ENST00000378024.4	37	c.5992C>T	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1202	0	0	0	1	0	7	1202					A	62295897	G	A	62295897	2	1	33	1	0	0	0	0	0	0	0	1	414	991	35	2		2	AHNAK	11	62295897	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	13109604	62295897	72710619	58	3918											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	533						7	533	---	---	---	---	A	63149669	-	A	63149668	7	5	33	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	853771	63149668	71856848	59	3919											
KCNK7	10089	broad.mit.edu	37	chr11	65360906	65360906	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagtcctagtccaggctcctCttcccccttcccccacacgc	6	21	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:65360906C>G	ENST00000340313.4	-	2	942				KCNK7_ENST00000394217.2_Intron|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394216.2_Missense_Mutation_p.K253N	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CCAGGCTCCTCTTCCCCCTTC	0.652																																						ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(757-759)aaG>aaC		potassium channel, subfamily K, member 7							60	64	63					11																	65360906		2201	4297	6498	SO:0001627	intron_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360906C>G	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.718+40G>C	11.37:g.65360906C>G						KCNK7_ENST00000340313.4_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394217.2_Intron	p.K253N	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			2	982	-			0					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.759G>C	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522040	0.13005	.	.	ENSG00000173338	ENST00000394216	T	0.19250	2.16	3.75	0.786	0.18590	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.36529	-0.9744	7	.	.	.	.	5.7016	0.17885	0.0:0.642:0.0:0.358	.	253	Q9Y2U2-3	.	N	253	ENSP00000377764:K253N	.	K	-	3	2	KCNK7	65117482	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.798000	0.27014	0.069000	0.16605	0.561000	0.74099	AAG		0.652	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		81	97	0	0	0	1	0	81	97					G	65360906	C	G	65360906	1	3	33	0	1	0	0	0	0	0	0	0	8101	912	32	5		5	KCNK7	11	65360906	Intron	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	2211238	65360906	69645610	60	3920											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		10	328						10	328	---	---	---	---	-	77069992	CAT	-	77069990	7	5	33	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-3A-A9IS-01A-21D-A397-08	11709084	77069990	57936526	61	3921											
PCF11	51585	broad.mit.edu	37	chr11	82882859	82882859	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattaaggtttttcttaaaGgttctgagtggtgttgctca	10	4	3	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:82882859G>T	ENST00000298281.4	+	9	4112		c.e9-1			NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTTCTTAAAGGTTCTGAGTG	0.338																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.e9-1		PCF11 cleavage and polyadenylation factor subunit							124	119	120					11																	82882859		1827	4088	5915	SO:0001630	splice_region_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82882859G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3661-1G>T	11.37:g.82882859G>T								NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			9	4112	+								A6H8W7|O43671|Q6P0X8	Splice_Site	SNP	ENST00000298281.4	37		CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639344	0.67244	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3099	0.74023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCF11	82560507	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.663000	0.68038	2.756000	0.94617	0.655000	0.94253	.		0.338	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	Intron	22	148	1	0	1.22574e-08	1	1.28929e-08	22	148					T	82882859	G	T	82882859	5	4	33	1	0	0	0	0	0	0	1	0	11615	1014	35	3	3694	3	PCF11	11	82882859	Splice_Site	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	5812869	82882859	52123657	62	3922											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	684						8	684	---	---	---	---	-	6649706	GGC	-	6649704	7	5	33	1	0	1	0	1	0	0	0	0	7540	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-3A-A9IS-01A-21D-A397-08		6649704	127202191	63	3923											
KIF21A	55605	broad.mit.edu	37	chr12	39727052	39727052	+	Frame_Shift_Del	DEL	T	T	-													tagaaccacttcttggtttcTtttttgggcttccagaagtc							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:39727052delT	ENST00000361418.5	-	18	2464	c.2449delA	c.(2449-2451)agafs	p.R817fs	KIF21A_ENST00000395670.3_Frame_Shift_Del_p.R817fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R804fs|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R804fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	817					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTGGTTTCTTTTTTGGGCT	0.323																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2449-2451)gafs		kinesin family member 21A							202	200	200					12																	39727052		2203	4300	6503	SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39727052delT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2449delA	12.37:g.39727052delT	ENSP00000354878:p.Arg817fs					KIF21A_ENST00000361418.5_Frame_Shift_Del_p.R817fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R804fs|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R804fs	p.R817fs			Q7Z4S6	KI21A_HUMAN			18	2868	-		Lung NSC(34;0.179)|all_lung(34;0.213)	817					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Del	DEL	ENST00000361418.5	37	c.2449delA	CCDS53776.1																																																																																				0.323	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	1246						8	1246	---	---	---	---	-	39727052	T	-	39727052	7	5	33	1	0	1	0	1	0	0	0	0	8318	1617	56	0	2659	0	KIF21A	12	39727052	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	33077348	39727052	94124843	64	3924											
ESPL1	9700	broad.mit.edu	37	chr12	53686084	53686084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcctcgccagtgctgaGtcaaggggtggatccacgaa	16	10	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:53686084G>A	ENST00000257934.4	+	28	5910	c.5819G>A	c.(5818-5820)aGt>aAt	p.S1940N	PFDN5_ENST00000551018.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.S1940N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1940					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)			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						CCAGTGCTGAGTCAAGGGGTG	0.527																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(5818-5820)aGt>aAt		extra spindle pole bodies homolog 1 (S. cerevisiae)							98	95	96					12																	53686084		2203	4300	6503	SO:0001583	missense	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.chr12:53686084G>A	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.5819G>A	12.37:g.53686084G>A	ENSP00000257934:p.Ser1940Asn					ESPL1_ENST00000552462.1_Missense_Mutation_p.S1940N	p.S1940N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			28	5910	+			1940						Missense_Mutation	SNP	ENST00000257934.4	37	c.5819G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	3.546	-0.092774	0.07053	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11821	2.74;2.74	4.17	3.26	0.37387	.	0.314863	0.34828	N	0.003649	T	0.11793	0.0287	L	0.47716	1.5	0.24098	N	0.995886	B	0.09022	0.002	B	0.06405	0.002	T	0.20472	-1.0274	10	0.23891	T	0.37	.	10.0644	0.42295	0.0:0.2038:0.7962:0.0	.	1940	Q14674	ESPL1_HUMAN	N	1940;1615;1940	ENSP00000257934:S1940N;ENSP00000449831:S1940N	ENSP00000257934:S1940N	S	+	2	0	ESPL1	51972351	0.479000	0.25925	1.000000	0.80357	0.545000	0.35147	0.711000	0.25764	1.325000	0.45301	0.650000	0.86243	AGT		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		31	396	0	0	0	1	0	31	396					A	53686084	G	A	53686084	3	1	33	1	0	0	0	0	1	0	0	0	5271	1029	36	2	5925	2	ESPL1	12	53686084	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	13959032	53686084	80165811	65	3925											
ERBB3	2065	broad.mit.edu	37	chr12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgccatgatgagtgtgCcgggggctgctcaggccctc	16	12	1	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(694-696)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							142	137	138					12																	56481660		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481660C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.695C>T	12.37:g.56481660C>T	ENSP00000267101:p.Ala232Val					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V	p.A232V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1135	+			232					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.695C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561038	0.96527	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84223	-1.82;-1.82	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.93733	0.7997	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94397	0.7619	10	0.87932	D	0	.	18.5835	0.91180	0.0:1.0:0.0:0.0	.	232	P21860	ERBB3_HUMAN	V	232;232;173	ENSP00000267101:A232V;ENSP00000408340:A173V	ENSP00000267101:A232V	A	+	2	0	ERBB3	54767927	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.481000	0.81124	2.685000	0.91497	0.655000	0.94253	GCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	906	0	0	0	1	0	6	906					T	56481660	C	T	56481660	3	4	33	1	0	0	0	0	1	0	0	0	5226	739	26	2	848	2	ERBB3	12	56481660	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	2795576	56481660	77370235	66	3926											
ESYT1	23344	broad.mit.edu	37	chr12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctacatggcgttttgCgggtgatactggagccactc	12	11	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192	199	197					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		9	1544	0	0	0	1	0	9	1544					T	56525276	C	T	56525276	3	4	33	1	0	0	0	0	1	0	0	0	5282	759	27	1	752	1	ESYT1	12	56525276	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	43616	56525276	77326619	67	3927											
ACAD10	80724	broad.mit.edu	37	chr12	112165781	112165781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtcattggcaccccCttctatgtgatggagtactg	10	12	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:112165781C>T	ENST00000313698.4	+	9	1232	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.P359P|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000455480.2_Silent_p.P390P	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	359						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTGGCACCCCCTTCTATGTGA	0.517																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1168-1170)ccC>ccT		acyl-CoA dehydrogenase family, member 10							185	172	176					12																	112165781		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165781C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1077C>T	12.37:g.112165781C>T						ACAD10_ENST00000549590.1_Silent_p.P359P|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Silent_p.P359P	p.P390P	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1347	+			359					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.1170C>T	CCDS31903.1																																																																																				0.517	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		391	558	0	0	0	1	0	391	558					T	112165781	C	T	112165781	2	4	33	1	0	0	0	0	0	0	0	1	108	668	24	2		2	ACAD10	12	112165781	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	55640505	112165781	21686114	68	3928											
SDSL	113675	broad.mit.edu	37	chr12	113872001	113872001	+	Frame_Shift_Del	DEL	C	C	-													agggacggctgggagaatgtCcccccgtttgaccaccccct							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:113872001delC	ENST00000403593.4	+	5	679	c.417delC	c.(415-417)gtcfs	p.V139fs	SDSL_ENST00000345635.4_Frame_Shift_Del_p.V139fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	139					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGGAGAATGTCCCCCCGTTTG	0.612																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(415-417)gtfs		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						126	126	126					12																	113872001		2203	4300	6503	SO:0001589	frameshift_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113872001delC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.417delC	12.37:g.113872001delC	ENSP00000385790:p.Val139fs					SDSL_ENST00000345635.4_Frame_Shift_Del_p.V139fs	p.V139fs			Q96GA7	SDSL_HUMAN			5	679	+			139						Frame_Shift_Del	DEL	ENST00000403593.4	37	c.417delC	CCDS9170.1																																																																																				0.612	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		7	1481						7	1481	---	---	---	---	-	113872001	C	-	113872001	7	5	33	1	0	1	0	1	0	0	0	0	14026	842	30	0	431	0	SDSL	12	113872001	Frame_Shift_Del	DEL	C	TCGA-3A-A9IS-01A-21D-A397-08	1706220	113872001	19979894	69	3929											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123706321	123706322	+	Frame_Shift_Ins	INS	-	-	A													atttctctcactgcttagagINSaaaaaaaacccatttgactt							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:123706321_123706322insA	ENST00000606320.1	-	5	675_676	c.469_470insT	c.(469-471)tctfs	p.S157fs	MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000539639.1_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	157						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S5C(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)		ACTGCTTAGAGAAAAAAAACCC	0.371																																						ENST00000606320.1																			1	Substitution - Missense(1)	p.S5C(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(469-471)tctfs		M-phase phosphoprotein 9				0,4264		0,0,2132						5.9	0.8			74	6,8248		0,6,4121	no	frameshift	MPHOSPH9	NM_022782.2		0,6,6253	A1A1,A1R,RR		0.0727,0.0,0.0479				6,12512				SO:0001589	frameshift_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706321_123706322insA	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.470dupT	12.37:g.123706329_123706329dupA	ENSP00000475489:p.Ser157fs					MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs	p.S157fs			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	675_676	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Ins	INS	ENST00000606320.1	37	c.469_470insT																																																																																					0.371	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			11	537						11	537	---	---	---	---	A	123706322	-	A	123706321	7	5	33	1	0	1	1	0	0	0	0	0	9769	942	33	0	3161	0	MPHOSPH9	12	123706321	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	9834320	123706321	10145574	70	3930											
PSPC1	55269	broad.mit.edu	37	chr13	20356758	20356758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggcgcgggcgcgggcGgtgccggctccccggcaaga	20	14	0	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:20356758G>A	ENST00000338910.4	-	1	299	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	47					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGGCGCGGGCGGTGCCGGCTC	0.706																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(139-141)cCg>cTg		paraspeckle component 1							14	16	15					13																	20356758		1848	4070	5918	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20356758G>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.140C>T	13.37:g.20356758G>A	ENSP00000343966:p.Pro47Leu						p.P47L	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	1	299	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	47					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.140C>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742235	0.49151	.	.	ENSG00000121390	ENST00000338910;ENST00000427943	T;T	0.17528	2.27;2.32	4.58	2.83	0.33086	.	0.557449	0.16038	N	0.232560	T	0.12518	0.0304	L	0.34521	1.04	0.40986	D	0.984817	B	0.09022	0.002	B	0.01281	0.0	T	0.06770	-1.0808	10	0.62326	D	0.03	0.009	6.7418	0.23441	0.1544:0.0:0.7016:0.144	.	47	Q8WXF1	PSPC1_HUMAN	L	47	ENSP00000343966:P47L;ENSP00000393069:P47L	ENSP00000343966:P47L	P	-	2	0	PSPC1	19254758	0.001000	0.12720	0.057000	0.19452	0.160000	0.22226	0.792000	0.26929	0.553000	0.29044	0.313000	0.20887	CCG		0.706	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			4	159	0	0	0	1	0	4	159					A	20356758	G	A	20356758	3	1	33	1	0	0	0	0	1	0	0	0	12763	1116	39	1	1467	1	PSPC1	13	20356758	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08		20356758	94813120	71	3931											
NAA16	79612	broad.mit.edu	37	chr13	41929345	41929345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgtgtgacttttttagCccatatggtaagtttaaatt	7	5	0	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:41929345C>A	ENST00000379406.3	+	10	1404	c.1080C>A	c.(1078-1080)agC>agA	p.S360R	NAA16_ENST00000403412.3_Missense_Mutation_p.S360R|RNU6-57P_ENST00000411348.1_RNA|NAA16_ENST00000379367.3_Missense_Mutation_p.S360R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	360					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ACTTTTTTAGCCCATATGGTA	0.264																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1078-1080)agC>agA		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							89	102	97					13																	41929345		2202	4289	6491	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41929345C>A	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1080C>A	13.37:g.41929345C>A	ENSP00000368716:p.Ser360Arg					NAA16_ENST00000379367.3_Missense_Mutation_p.S360R|NAA16_ENST00000403412.3_Missense_Mutation_p.S360R	p.S360R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			10	1404	+			360					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1080C>A	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960831	0.34565	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.47869	0.83;0.83;0.83	5.23	0.992	0.19819	.	0.125139	0.53938	D	0.000043	T	0.51584	0.1683	M	0.76170	2.325	0.42341	D	0.992332	P;B	0.36909	0.573;0.127	P;B	0.45794	0.493;0.326	T	0.45991	-0.9223	10	0.22109	T	0.4	-3.9933	10.8813	0.46939	0.0:0.6107:0.0:0.3893	.	360;360	Q6N069;Q6N069-4	NAA16_HUMAN;.	R	360	ENSP00000368674:S360R;ENSP00000368716:S360R;ENSP00000386103:S360R	ENSP00000368674:S360R	S	+	3	2	NAA16	40827345	0.001000	0.12720	1.000000	0.80357	0.946000	0.59487	-0.594000	0.05733	0.232000	0.21100	0.655000	0.94253	AGC		0.264	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		118	516	1	0	4.55767e-64	1	5.05616e-64	118	516					A	41929345	C	A	41929345	3	1	33	1	0	0	0	0	1	0	0	0	10160	738	26	3	1118	3	NAA16	13	41929345	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	21572587	41929345	73240533	72	3932											
ZC3H13	23091	broad.mit.edu	37	chr13	46549566	46549566	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctctcgctctttctcGttcccgttctcgctctcgct	5	18	5	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:46549566G>A	ENST00000242848.4	-	12	2668	c.2320C>T	c.(2320-2322)Cga>Tga	p.R774*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	774	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gctctttctcgttcccgttct	0.512																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2320-2322)Cga>Tga		zinc finger CCCH-type containing 13							349	271	297					13																	46549566		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46549566G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2320C>T	13.37:g.46549566G>A	ENSP00000242848:p.Arg774*					ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774*	p.R774*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2668	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	774			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.2320C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.836150	0.98972	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	4.72	1.86	0.25419	.	0.000000	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.6588	0.62354	0.0:0.0:0.2808:0.7192	.	.	.	.	X	774	.	ENSP00000242848:R774X	R	-	1	2	ZC3H13	45447567	0.999000	0.42202	0.990000	0.47175	0.974000	0.67602	0.668000	0.25127	0.152000	0.19188	0.467000	0.42956	CGA		0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	379	0	0	0	1	0	5	379					A	46549566	G	A	46549566	4	1	33	1	0	0	0	0	0	1	0	0	17618	1153	40	1	2398	1	ZC3H13	13	46549566	Nonsense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	4620221	46549566	68620312	73	3933											
TMCO3	55002	broad.mit.edu	37	chr13	114193716	114193716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagctgggctgtttcctGgctggagcgctcgtctcctc	14	12	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:114193716G>A	ENST00000434316.2	+	10	1943	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	528						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCTGTTTCCTGGCTGGAGCGC	0.627																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1582-1584)ctG>ctA		transmembrane and coiled-coil domains 3							113	91	99					13																	114193716		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114193716G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1584G>A	13.37:g.114193716G>A						TMCO3_ENST00000375391.1_Intron	p.L528L	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		10	1943	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	528					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.1584G>A	CCDS9537.1																																																																																				0.627	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		6	325	0	0	0	1	0	6	325					A	114193716	G	A	114193716	2	1	33	1	0	0	0	0	0	0	0	1	16049	1335	47	2		2	TMCO3	13	114193716	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	67644150	114193716	976162	74	3934											
PAX9	5083	broad.mit.edu	37	chr14	37132535	37132535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgactcatacaagcagcaCcagccgacgccgcagccagc	9	17	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:37132535C>A	ENST00000361487.6	+	2	663	c.438C>A	c.(436-438)caC>caA	p.H146Q	PAX9_ENST00000402703.2_Missense_Mutation_p.H146Q|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	146					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACAAGCAGCACCAGCCGACGC	0.632																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(436-438)caC>caA		paired box 9							64	55	58					14																	37132535		2203	4300	6503	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132535C>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.438C>A	14.37:g.37132535C>A	ENSP00000355245:p.His146Gln					PAX9_ENST00000402703.2_Missense_Mutation_p.H146Q|PAX9_ENST00000554201.1_5'UTR	p.H146Q			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	663	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		146					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.438C>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255799	0.39896	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98777	-5.13;-5.13	5.25	2.96	0.34315	.	0.243429	0.49305	N	0.000149	D	0.96430	0.8835	M	0.67953	2.075	0.53688	D	0.999977	P	0.38335	0.627	B	0.32022	0.139	D	0.94492	0.7702	10	0.26408	T	0.33	.	10.0001	0.41924	0.1323:0.7424:0.0:0.1254	.	146	P55771	PAX9_HUMAN	Q	146	ENSP00000384817:H146Q;ENSP00000355245:H146Q	ENSP00000355245:H146Q	H	+	3	2	PAX9	36202286	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	0.306000	0.19279	1.122000	0.41944	0.561000	0.74099	CAC		0.632	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			79	169	1	0	4.75426e-39	1	5.11443e-39	79	169					A	37132535	C	A	37132535	3	1	33	1	0	0	0	0	1	0	0	0	11528	506	18	3	444	3	PAX9	14	37132535	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08		37132535	70217005	75	3935											
LRFN5	145581	broad.mit.edu	37	chr14	42356192	42356192	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatgatatgttcagtggtCtttccaatcttcatcatttg	6	8	5	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:42356192C>T	ENST00000298119.4	+	3	1553	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F	LRFN5_ENST00000554171.1_Missense_Mutation_p.L122F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L122F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	122						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTCAGTGGTCTTTCCAATCT	0.383										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(364-366)Ctt>Ttt		leucine rich repeat and fibronectin type III domain containing 5							79	76	77					14																	42356192		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356192C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.364C>T	14.37:g.42356192C>T	ENSP00000298119:p.Leu122Phe	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.L122F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L122F	p.L122F			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2796	+			122					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.364C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931517	0.52866	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91521	-2.86;-2.86;-2.86	5.56	5.56	0.83823	.	0.000000	0.50627	D	0.000104	D	0.95996	0.8696	M	0.88979	2.995	0.50813	D	0.99989	D;D	0.62365	0.98;0.991	P;D	0.74348	0.899;0.983	D	0.96525	0.9388	10	0.87932	D	0	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	122;122	G3V364;Q96NI6	.;LRFN5_HUMAN	F	122	ENSP00000298119:L122F;ENSP00000451897:L122F;ENSP00000451067:L122F	ENSP00000298119:L122F	L	+	1	0	LRFN5	41425942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.001000	0.70685	2.595000	0.87683	0.650000	0.86243	CTT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		8	374	0	0	0	1	0	8	374					T	42356192	C	T	42356192	3	4	33	1	0	0	0	0	1	0	0	0	8979	913	32	2	366	2	LRFN5	14	42356192	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	5223657	42356192	64993348	76	3936											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		10	604						10	604	---	---	---	---	-	95921890	CTC	-	95921888	7	5	33	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-3A-A9IS-01A-21D-A397-08	53565696	95921888	11427652	77	3937											
BDKRB1	623	broad.mit.edu	37	chr14	96730887	96730887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttttgggaggacttcAttgacctgggcctgcaattg	13	9	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:96730887A>G	ENST00000216629.6	+	3	1474	c.868A>G	c.(868-870)Att>Gtt	p.I290V	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	290					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)			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)		GGAGGACTTCATTGACCTGGG	0.522																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(868-870)Att>Gtt		bradykinin receptor B1							128	123	125					14																	96730887		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730887A>G	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.868A>G	14.37:g.96730887A>G	ENSP00000216629:p.Ile290Val					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	p.I290V	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1474	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	290					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.868A>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	A	3.649	-0.071948	0.07228	.	.	ENSG00000100739	ENST00000216629	T	0.37058	1.22	4.76	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.165522	0.40640	N	0.001052	T	0.22126	0.0533	L	0.39566	1.225	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.32241	-0.9914	10	0.05436	T	0.98	-1.6053	5.9202	0.19078	0.5628:0.2721:0.0:0.165	.	290	P46663	BKRB1_HUMAN	V	290	ENSP00000216629:I290V	ENSP00000216629:I290V	I	+	1	0	BDKRB1	95800640	0.000000	0.05858	0.059000	0.19551	0.419000	0.31324	0.528000	0.23002	0.648000	0.30732	0.459000	0.35465	ATT		0.522	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			165	410	0	0	0	1	0	165	410					G	96730887	A	G	96730887	3	3	33	1	0	0	0	0	1	0	0	0	1393	217	8	4	870	4	BDKRB1	14	96730887	Missense_Mutation	SNP	A	TCGA-3A-A9IS-01A-21D-A397-08	808999	96730887	10618653	78	3938											
DNAH3	55567	broad.mit.edu	37	chr16	20976647	20976647	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggatccgcttcatggtcagTggggggatgttgtctttgtc	15	8	3	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:20976647T>A	ENST00000261383.3	-	53	8558	c.8559A>T	c.(8557-8559)ccA>ccT	p.P2853P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {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)			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)		TCATGGTCAGTGGGGGGATGT	0.458																																						ENST00000261383.3																			0				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						c.(8557-8559)ccA>ccT		dynein, axonemal, heavy chain 3							86	87	87					16																	20976647		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647T>A	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.8559A>T	16.37:g.20976647T>A						DNAH3_ENST00000415178.1_3'UTR	p.P2853P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8559A>T	CCDS10594.1																																																																																				0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	607	0	0	0	1	0	13	607					A	20976647	T	A	20976647	2	1	33	1	0	0	0	0	0	0	0	1	4619	1683	59	5		5	DNAH3	16	20976647	Silent	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08		20976647	69378106	79	3939											
ZNF688	146542	broad.mit.edu	37	chr16	30581293	30581293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcacaggcgggtcccGgtcacctcggacgggggccc	17	14	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:30581293G>A	ENST00000223459.6	-	3	1879	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	ZNF688_ENST00000395219.1_Missense_Mutation_p.R245W|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GGCGGGTCCCGGTCACCTCGG	0.706																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(775-777)Cgg>Tgg		zinc finger protein 688							19	22	21					16																	30581293		2102	4139	6241	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581293G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.775C>T	16.37:g.30581293G>A	ENSP00000223459:p.Arg259Trp					ZNF688_ENST00000395219.1_Missense_Mutation_p.R245W	p.R259W	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1879	-			259					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.775C>T	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664849	0.47572	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04234	3.67;3.91	4.42	2.42	0.29668	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.33232	D	0.556007	B;B	0.25486	0.072;0.127	B;B	0.18263	0.014;0.021	T	0.26849	-1.0091	9	0.72032	D	0.01	.	5.3168	0.15860	0.1051:0.0:0.6939:0.2009	.	259;245	P0C7X2;A8MV39	ZN688_HUMAN;.	W	245;259	ENSP00000378645:R245W;ENSP00000223459:R259W	ENSP00000223459:R259W	R	-	1	2	ZNF688	30488794	0.999000	0.42202	0.994000	0.49952	0.828000	0.46876	1.110000	0.31147	0.582000	0.29556	-0.518000	0.04402	CGG		0.706	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		4	158	0	0	0	1	0	4	158					A	30581293	G	A	30581293	3	1	33	1	0	0	0	0	1	0	0	0	18146	1115	39	1	59	1	ZNF688	16	30581293	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	9604646	30581293	59773460	80	3940											
OGFOD1	55239	broad.mit.edu	37	chr16	56509438	56509439	+	Frame_Shift_Ins	INS	-	-	G													gctgggagccagaatatggcINSggttttacttcttacattgc					rs200387944|rs181095853	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:56509438_56509439insG	ENST00000566157.1	+	12	1551_1552	c.1428_1429insG	c.(1429-1431)ggtfs	p.G477fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.G434fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	477					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CAGAATATGGCGGTTTTACTTC	0.371																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1426-1431)gggtttfs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509438_56509439insG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1430dupG	16.37:g.56509440_56509440dupG	ENSP00000457258:p.Gly477fs					OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs	p.F477fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			12	1551_1552	+			477					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	ENST00000566157.1	37	c.1428_1429insG	CCDS10761.2																																																																																				0.371	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		8	366						8	366	---	---	---	---	G	56509439	-	G	56509438	7	5	33	1	0	1	1	0	0	0	0	0	10883	755	27	0	1474	0	OGFOD1	16	56509438	Frame_Shift_Ins	INS	-	TCGA-3A-A9IS-01A-21D-A397-08	25928145	56509438	33845315	81	3941											
PROCA1	6830	broad.mit.edu	37	chr17	27030601	27030601	+	IGR	DEL	G	G	-													tgaggttggggtttgatcctGggggagattttctcttgttt					rs188624178		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:27030601delG	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Frame_Shift_Del_p.P331fs|PROCA1_ENST00000301039.2_Frame_Shift_Del_p.P329fs	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTTTGATCCTGGGGGAGATTT	0.547																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(985-987)cafs		protein interacting with cyclin A1							105	106	106					17																	27030601		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030601delG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030601delG						PROCA1_ENST00000439862.3_Frame_Shift_Del_p.P331fs	p.P329fs	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	1179	-	Lung NSC(42;0.00431)		357					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Frame_Shift_Del	DEL	ENST00000314616.6	37	c.986delC	CCDS32596.1																																																																																				0.547	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1095						7	1095	---	---	---	---	-	27030601	G	-	27030601	6	5	33	0	1	1	0	1	0	0	0	0	12593	1348	47	0		0	PROCA1	17	27030601	IGR	DEL	G	TCGA-3A-A9IS-01A-21D-A397-08		27030601	54164609	82	3942											
NF1	4763	broad.mit.edu	37	chr17	29556978	29556978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcattgaaacaatgatGttaaatctggtcaggtaagc	10	6	2	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:29556978G>A	ENST00000358273.4	+	22	3359	c.2976G>A	c.(2974-2976)atG>atA	p.M992I	NF1_ENST00000356175.3_Missense_Mutation_p.M992I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	992					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAATGATGTTAAATCTGG	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2974-2976)atG>atA		neurofibromin 1							96	96	96					17																	29556978		2203	4296	6499	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556978G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2976G>A	17.37:g.29556978G>A	ENSP00000351015:p.Met992Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.M992I	p.M992I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3359	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	992					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2976G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.434787	0.83885	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08807	3.23;3.36;3.05	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.61703	1.905	0.80722	D	1	B;B;P;B	0.39044	0.245;0.038;0.656;0.086	B;B;P;B	0.51777	0.077;0.015;0.679;0.032	T	0.00397	-1.1765	10	0.29301	T	0.29	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	992;42;992;992	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	I	992;992;658	ENSP00000351015:M992I;ENSP00000348498:M992I;ENSP00000389907:M658I	ENSP00000348498:M992I	M	+	3	0	NF1	26581104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.550000	0.86006	0.455000	0.32223	ATG		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		141	294	0	0	0	1	0	141	294					A	29556978	G	A	29556978	3	1	33	1	0	0	0	0	1	0	0	0	10398	1377	48	2	3123	2	NF1	17	29556978	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	2526377	29556978	51638232	83	3943											
SMARCE1	6605	broad.mit.edu	37	chr17	38788474	38788474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattaaggactggacctgCcgtttgaggacctgcattct	10	11	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:38788474C>T	ENST00000348513.6	-	8	1467	c.687G>A	c.(685-687)cgG>cgA	p.R229R	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Silent_p.R194R|SMARCE1_ENST00000544009.1_Silent_p.R159R|SMARCE1_ENST00000578044.1_Silent_p.R159R|SMARCE1_ENST00000377808.4_Silent_p.R194R|SMARCE1_ENST00000431889.2_Silent_p.R211R|SMARCE1_ENST00000400122.3_Silent_p.R159R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	229					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				ACTGGACCTGCCGTTTGAGGA	0.448																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(685-687)cgG>cgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							131	113	119					17																	38788474		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38788474C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.687G>A	17.37:g.38788474C>T						SMARCE1_ENST00000400122.3_Silent_p.R159R|SMARCE1_ENST00000377808.4_Silent_p.R194R|SMARCE1_ENST00000578044.1_Silent_p.R159R|SMARCE1_ENST00000580419.1_Silent_p.R194R|SMARCE1_ENST00000544009.1_Silent_p.R159R|SMARCE1_ENST00000431889.2_Silent_p.R211R|KRT222_ENST00000476049.1_3'UTR	p.R229R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			8	1467	-		Breast(137;0.000812)	229					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.687G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.292735|1.292735	0.23564|0.23564	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000264640|ENST00000400122	.|.	.|.	.|.	5.63|5.63	-3.17|-3.17	0.05202|0.05202	.|.	.|.	.|.	.|.	.|.	T|T	0.51210|0.51210	0.1661|0.1661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48864|0.48864	-0.8997|-0.8997	4|4	.|.	.|.	.|.	.|.	8.022|8.022	0.30415|0.30415	0.0:0.2076:0.4192:0.3732|0.0:0.2076:0.4192:0.3732	.|.	.|.	.|.	.|.	T|D	43|55	.|.	.|.	A|G	-|-	1|2	0|0	SMARCE1|SMARCE1	36042000|36042000	0.866000|0.866000	0.29940|0.29940	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	-0.363000|-0.363000	0.07593|0.07593	-0.355000|-0.355000	0.08199|0.08199	-0.290000|-0.290000	0.09829|0.09829	GCA|GGC		0.448	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		6	493	0	0	0	1	0	6	493					T	38788474	C	T	38788474	2	4	33	1	0	0	0	0	0	0	0	1	14830	726	26	2		2	SMARCE1	17	38788474	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	9231496	38788474	42406736	84	3944											
NKIRAS2	28511	broad.mit.edu	37	chr17	40174482	40174482	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacagaccggggggtgCgagagcaggtgcgtttctat	17	7	1	3			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:40174482C>T	ENST00000307641.5	+	3	781	c.160C>T	c.(160-162)Cga>Tga	p.R54*	NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.R52*|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.R54*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	54	Small GTPase-like.				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)			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)				CCGGGGGGTGCGAGAGCAGGT	0.562																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(160-162)Cga>Tga		NFKB inhibitor interacting Ras-like 2							46	45	45					17																	40174482		2203	4300	6503	SO:0001587	stop_gained	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174482C>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	ENST00000307641.5:c.160C>T	17.37:g.40174482C>T	ENSP00000303580:p.Arg54*					NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.R52*	p.R54*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN			3	781	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	54			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Nonsense_Mutation	SNP	ENST00000307641.5	37	c.160C>T	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	C	36	5.790440	0.96945	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	.	.	.	5.53	4.5	0.54988	.	0.050230	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-16.1585	13.3788	0.60757	0.2738:0.7262:0.0:0.0	.	.	.	.	X	54;52;54;54;54;54;54;54	.	ENSP00000303580:R54X	R	+	1	2	NKIRAS2	37428008	0.410000	0.25376	1.000000	0.80357	0.987000	0.75469	0.039000	0.13884	2.775000	0.95449	0.585000	0.79938	CGA		0.562	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		4	235	0	0	0	1	0	4	235					T	40174482	C	T	40174482	4	4	33	1	0	0	0	0	0	1	0	0	10487	760	27	1	166	1	NKIRAS2	17	40174482	Nonsense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	1386008	40174482	41020728	85	3945											
CD300LG	146894	broad.mit.edu	37	chr17	41924588	41924588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccagcgcccagaatgCggcttctggtcctgctatgg	14	12	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:41924588C>T	ENST00000317310.4	+	1	45	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CD300LG_ENST00000377203.4_Missense_Mutation_p.R2W|CD300LG_ENST00000586233.1_Missense_Mutation_p.R2W|CD300LG_ENST00000588884.1_Missense_Mutation_p.R2W|CD300LG_ENST00000293396.8_Missense_Mutation_p.R2W|CD300LG_ENST00000539718.1_Missense_Mutation_p.R2W	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	2					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCAGAATGCGGCTTCTGGT	0.602																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(4-6)Cgg>Tgg		CD300 molecule-like family member g							92	90	91					17																	41924588		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41924588C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.4C>T	17.37:g.41924588C>T	ENSP00000321005:p.Arg2Trp					CD300LG_ENST00000377203.4_Missense_Mutation_p.R2W|CD300LG_ENST00000539718.1_Missense_Mutation_p.R2W|CD300LG_ENST00000293396.8_Missense_Mutation_p.R2W|CD300LG_ENST00000588884.1_Missense_Mutation_p.R2W|CD300LG_ENST00000586233.1_Missense_Mutation_p.R2W	p.R2W	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	1	45	+		Breast(137;0.0199)	2					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.4C>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454695	0.43634	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.08720	3.1;3.06;3.38;3.45	3.3	-6.59	0.01830	.	1.440700	0.05042	N	0.476422	T	0.06872	0.0175	L	0.43701	1.375	0.09310	N	1	B;B;B;B;B;B	0.21688	0.059;0.059;0.022;0.013;0.059;0.013	B;B;B;B;B;B	0.15484	0.01;0.008;0.01;0.005;0.013;0.003	T	0.34850	-0.9812	10	0.87932	D	0	-18.3701	4.4599	0.11661	0.4786:0.1633:0.0:0.3581	.	2;2;2;2;2;2	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	W	2	ENSP00000321005:R2W;ENSP00000442368:R2W;ENSP00000366408:R2W;ENSP00000293396:R2W	ENSP00000293396:R2W	R	+	1	2	CD300LG	39280114	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.465000	0.00995	-2.101000	0.00846	-0.768000	0.03414	CGG		0.602	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		5	502	0	0	0	1	0	5	502					T	41924588	C	T	41924588	3	4	33	1	0	0	0	0	1	0	0	0	3011	759	27	1	6	1	CD300LG	17	41924588	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	1750106	41924588	39270622	86	3946											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		11	350						11	350	---	---	---	---	-	12986929	TCC	-	12986927	6	5	33	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-3A-A9IS-01A-21D-A397-08		12986927	65090321	87	3947											
DSC2	1824	broad.mit.edu	37	chr18	28650816	28650816	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccagcgtaaacaggatgCctggaggaagaaagaaatat	12	6	0	3	rs145831682	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:28650816C>T	ENST00000280904.6	-	14	2569	c.2126G>A	c.(2125-2127)tGc>tAc	p.C709Y	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Splice_Site_p.C709Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	709					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAACAGGATGCCTGGAGGAAG	0.343																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.e14-1		desmocollin 2		C	TYR/CYS,TYR/CYS	2,4404	4.2+/-10.8	0,2,2201	78	79	79		2126,2126	6.1	1	18	dbSNP_134	79	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	DSC2	NM_004949.3,NM_024422.3	194,194	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	709/848,709/902	28650816	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28650816C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2126-1G>A	18.37:g.28650816C>T						DSC2_ENST00000251081.6_Splice_Site_p.C709_splice	p.C709_splice	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		14	2569	-			709						Splice_Site	SNP	ENST00000280904.6	37	c.2125_splice	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166845	0.57476	4.54E-4	0.0	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.59083	0.33;0.29	6.08	6.08	0.98989	.	0.241759	0.21756	N	0.069589	T	0.77157	0.4089	M	0.83223	2.63	0.58432	D	0.999997	D;D	0.89917	0.975;1.0	P;D	0.72625	0.903;0.978	T	0.79009	-0.1978	10	0.72032	D	0.01	.	13.8168	0.63297	0.0:0.9305:0.0:0.0695	.	709;709	Q02487;Q02487-2	DSC2_HUMAN;.	Y	709;709;475;722	ENSP00000251081:C709Y;ENSP00000280904:C709Y	ENSP00000251081:C709Y	C	-	2	0	DSC2	26904814	1.000000	0.71417	0.981000	0.43875	0.429000	0.31625	3.668000	0.54554	2.894000	0.99253	0.591000	0.81541	TGC		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	Missense_Mutation	5	291	0	0	0	1	0	5	291					T	28650816	C	T	28650816	5	4	33	1	0	0	0	0	0	0	1	0	4782	753	26	2	631	2	DSC2	18	28650816	Splice_Site	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	15663889	28650816	49426432	88	3948											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60051988	60051990	+	In_Frame_Del	DEL	TGT	TGT	-													cttcctctccccgcaggaaaTgtgactggaaacagtaactc							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:60051988_60051990delTGT	ENST00000586569.1	+	10	1610_1612	c.1572_1574delTGT	c.(1570-1575)aatgtg>aag	p.524_525NV>K	TNFRSF11A_ENST00000269485.7_In_Frame_Del_p.207_208NV>K	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	524					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCGCAGGAAATGTGACTGGAAAC	0.626																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1570-1575)aag>aa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator																																				SO:0001651	inframe_deletion	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60051988_60051990delTGT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1572_1574delTGT	18.37:g.60051988_60051990delTGT	ENSP00000465500:p.Asn524_Val525delinsLys					TNFRSF11A_ENST00000269485.7_In_Frame_Del_p.NV207del	p.NV524del	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			10	1610_1612	+		Colorectal(73;0.188)	524					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	In_Frame_Del	DEL	ENST00000586569.1	37	c.1572_1574delTGT	CCDS11980.1																																																																																				0.626	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			26	103						26	103	---	---	---	---	-	60051990	TGT	-	60051988	7	5	33	1	0	1	0	1	0	0	0	0	16336	1461	51	0	1610	0	TNFRSF11A	18	60051988	In_Frame_Del	DEL	TGT	TCGA-3A-A9IS-01A-21D-A397-08	31401172	60051988	18025260	89	3949											
DAZAP1	26528	broad.mit.edu	37	chr19	1428858	1428858	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggtggaagttaaacgagcTgagcctcgggacagcaagag	15	7	0	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:1428858T>A	ENST00000233078.4	+	8	725	c.564T>A	c.(562-564)gcT>gcA	p.A188A	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Silent_p.A188A	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	188	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TTAAACGAGCTGAGCCTCGGG	0.627																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(562-564)gcT>gcA		DAZ associated protein 1							39	47	45					19																	1428858		2203	4300	6503	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1428858T>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.564T>A	19.37:g.1428858T>A						DAZAP1_ENST00000233078.4_Silent_p.A188A|DAZAP1_ENST00000586579.1_3'UTR	p.A188A	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_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)	8	769	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	188			RRM 2.		Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.564T>A	CCDS12065.1																																																																																				0.627	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		30	289	0	0	0	1	0	30	289					A	1428858	T	A	1428858	2	1	33	1	0	0	0	0	0	0	0	1	4255	1567	55	5		5	DAZAP1	19	1428858	Silent	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08		1428858	57700125	90	3950											
AMH	268	broad.mit.edu	37	chr19	2250861	2250861	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcagactcccggctgagTaccgcccggctgcaggcact	12	17	0	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:2250861T>G	ENST00000221496.4	+	4	700	c.678T>G	c.(676-678)agT>agG	p.S226R	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	226					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		CCCGGCTGAGTACCGCCCGGC	0.756									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.3																			0				lung(2)	2						c.(676-678)agT>agG		anti-Mullerian hormone							5	7	6					19																	2250861		2106	4149	6255	SO:0001583	missense	268	Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	g.chr19:2250861T>G	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.678T>G	19.37:g.2250861T>G	ENSP00000221496:p.Ser226Arg						p.S226R	NM_000479.3	NP_000470.2	P03971	MIS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1344	+		Hepatocellular(1079;0.137)	226					O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	c.678T>G	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310298	0.23821	.	.	ENSG00000104899	ENST00000221496	D	0.84944	-1.92	4.49	2.31	0.28768	Anti-Mullerian hormone, N-terminal (1);	0.781535	0.11937	N	0.515156	D	0.82674	0.5088	M	0.66939	2.045	0.09310	N	1	B	0.25351	0.124	B	0.28385	0.089	T	0.74791	-0.3545	10	0.66056	D	0.02	-20.4521	7.7249	0.28755	0.0:0.7805:0.0:0.2195	.	226	P03971	MIS_HUMAN	R	226	ENSP00000221496:S226R	ENSP00000221496:S226R	S	+	3	2	AMH	2201861	0.042000	0.20092	0.696000	0.30242	0.046000	0.14306	0.969000	0.29370	0.806000	0.34183	0.454000	0.30748	AGT		0.756	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		4	43	0	0	0	1	0	4	43					G	2250861	T	G	2250861	3	3	33	1	0	0	0	0	1	0	0	0	572	1635	57	4	692	4	AMH	19	2250861	Missense_Mutation	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08	822003	2250861	56878122	91	3951											
KCNK6	9424	broad.mit.edu	37	chr19	38817290	38817290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttctccatcgcctttgCgctcctgggcgtgccgacca	11	17	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:38817290C>T	ENST00000263372.3	+	2	487	c.380C>T	c.(379-381)gCg>gTg	p.A127V		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	127					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	ATCGCCTTTGCGCTCCTGGGC	0.572																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(379-381)gCg>gTg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						84	80	82					19																	38817290		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817290C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.380C>T	19.37:g.38817290C>T	ENSP00000263372:p.Ala127Val						p.A127V	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	487	+	all_cancers(60;5.83e-07)		127					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.380C>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544415	0.86022	.	.	ENSG00000099337	ENST00000263372	T	0.33216	1.42	5.26	5.26	0.73747	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.57648	-0.7775	10	0.87932	D	0	.	16.3718	0.83365	0.0:1.0:0.0:0.0	.	127	Q9Y257	KCNK6_HUMAN	V	127	ENSP00000263372:A127V	ENSP00000263372:A127V	A	+	2	0	KCNK6	43509130	1.000000	0.71417	0.911000	0.35937	0.358000	0.29455	7.719000	0.84751	2.470000	0.83445	0.561000	0.74099	GCG		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		5	561	0	0	0	1	0	5	561					T	38817290	C	T	38817290	3	4	33	1	0	0	0	0	1	0	0	0	8100	768	27	1	386	1	KCNK6	19	38817290	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	36566429	38817290	20311693	92	3952											
CBLC	23624	broad.mit.edu	37	chr19	45284309	45284309	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaagttgcggagcccgGtgagtaagcccttgtcctca	14	10	1	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:45284309G>A	ENST00000270279.3	+	2	563		c.e2+1		CBLC_ENST00000341505.4_Splice_Site	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCGGAGCCCGGTGAGTAAGCC	0.652			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e2+1		Cbl proto-oncogene C, E3 ubiquitin protein ligase							45	46	46					19																	45284309		2203	4300	6503	SO:0001630	splice_region_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284309G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.500+1G>A	19.37:g.45284309G>A						CBLC_ENST00000341505.4_Splice_Site		NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			2	563	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)						Q8N1E5|Q9Y5Z2|Q9Y5Z3	Splice_Site	SNP	ENST00000270279.3	37		CCDS12643.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100841	0.37048	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7238	0.77736	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBLC	49976149	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	6.212000	0.72188	2.315000	0.78130	0.491000	0.48974	.		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116	Intron	8	213	0	0	0	1	0	8	213					A	45284309	G	A	45284309	5	1	33	1	0	0	0	0	0	0	1	0	2709	1275	44	2	507	2	CBLC	19	45284309	Splice_Site	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	6467019	45284309	13844674	93	3953											
FBXO46	23403	broad.mit.edu	37	chr19	46215179	46215179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgcacggatcatcgcgGtagagcgggtctcggctcca	14	11	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:46215179G>A	ENST00000317683.3	-	2	1708	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	525										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GATCATCGCGGTAGAGCGGGT	0.647																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1573-1575)taC>taT		F-box protein 46							44	47	46					19																	46215179		2128	4235	6363	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215179G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1575C>T	19.37:g.46215179G>A							p.Y525Y	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1708	-		Ovarian(192;0.179)|all_neural(266;0.224)	525						Silent	SNP	ENST00000317683.3	37	c.1575C>T	CCDS46116.1																																																																																				0.647	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		4	192	0	0	0	1	0	4	192					A	46215179	G	A	46215179	2	1	33	1	0	0	0	0	0	0	0	1	5780	1256	44	2		2	FBXO46	19	46215179	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	930870	46215179	12913804	94	3954											
PNMAL1	55228	broad.mit.edu	37	chr19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-													gagacagggcccaagctcacCttcttcttcttcctcatggg							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1096-1098)del		paraneoplastic Ma antigen family-like 1																																				SO:0001651	inframe_deletion	55228							g.chr19:46973195_46973197delCTT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1096_1098delAAG	19.37:g.46973204_46973206delCTT	ENSP00000318131:p.Lys366del					PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron	p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1401_1403	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	366					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	In_Frame_Del	DEL	ENST00000313683.10	37	c.1096_1098delAAG	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		9	1264						9	1264	---	---	---	---	-	46973197	CTT	-	46973195	7	5	33	1	0	1	0	1	0	0	0	0	12199	695	24	0	251	0	PNMAL1	19	46973195	In_Frame_Del	DEL	CTT	TCGA-3A-A9IS-01A-21D-A397-08	758016	46973195	12155788	95	3955											
ZNF577	84765	broad.mit.edu	37	chr19	52375911	52375911	+	Frame_Shift_Del	DEL	A	A	-													acaaaggcttgatttcttggAaaaggttgttccacaatcac							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:52375911delA	ENST00000301399.5	-	7	1697	c.1332delT	c.(1330-1332)tttfs	p.F444fs	ZNF577_ENST00000420592.1_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATTTCTTGGAAAAGGTTGTT	0.403																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1153-1155)ttfs		zinc finger protein 577							68	64	66					19																	52375911		2203	4300	6503	SO:0001589	frameshift_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375911delA	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1332delT	19.37:g.52375911delA	ENSP00000301399:p.Phe444fs					ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Frame_Shift_Del_p.F444fs|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000485702.1_Intron	p.F385fs			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2488	-		all_neural(266;0.0602)	444					A8K0B4|A8K6Z7|C9JFB9	Frame_Shift_Del	DEL	ENST00000301399.5	37	c.1155delT	CCDS12842.2																																																																																				0.403	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		93	223						93	223	---	---	---	---	-	52375911	A	-	52375911	7	5	33	1	0	1	0	1	0	0	0	0	18062	243	9	0	129	0	ZNF577	19	52375911	Frame_Shift_Del	DEL	A	TCGA-3A-A9IS-01A-21D-A397-08	5402716	52375911	6753072	96	3956											
ZNF552	79818	broad.mit.edu	37	chr19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-													agtgaagagatttgcctaaaTtttttttcacattcactgca							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147	143	144			2	0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	695						7	695	---	---	---	---	-	58319468	T	-	58319468	7	5	33	1	0	1	0	1	0	0	0	0	18037	1490	52	0	63	0	ZNF552	19	58319468	Frame_Shift_Del	DEL	T	TCGA-3A-A9IS-01A-21D-A397-08	5943557	58319468	809515	97	3957											
CDC25B	994	broad.mit.edu	37	chr20	3778313	3778313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgctcttccgcagccGcagccgcctgacgcacctat	9	19	1	1	rs146567070		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:3778313G>A	ENST00000245960.5	+	2	942	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CDC25B_ENST00000379598.5_Missense_Mutation_p.R18H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R18H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R82H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R68H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	82					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TTCCGCAGCCGCAGCCGCCTG	0.617																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(244-246)cGc>cAc		cell division cycle 25B		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	71	70		203,245,245	-4.1	0	20	dbSNP_134	70	0,8600		0,0,4300	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	68/567,82/540,82/581	3778313	1,13005	2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778313G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.245G>A	20.37:g.3778313G>A	ENSP00000245960:p.Arg82His					CDC25B_ENST00000379598.5_Missense_Mutation_p.R18H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R18H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R68H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R82H|CDC25B_ENST00000467519.1_3'UTR	p.R82H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			2	942	+			82					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.245G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313110	0.23908	2.27E-4	0.0	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.18338	2.32;2.22;2.46;2.55;2.42	2.89	-4.12	0.03916	.	1.758930	0.03376	N	0.199706	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.32268	-0.9913	10	0.19590	T	0.45	-2.8938	8.8465	0.35172	0.4338:0.0:0.5662:0.0	.	18;4;18;82;68;82	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	18;18;82;68;82	ENSP00000339125:R18H;ENSP00000368918:R18H;ENSP00000245960:R82H;ENSP00000405972:R68H;ENSP00000339170:R82H	ENSP00000245960:R82H	R	+	2	0	CDC25B	3726313	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.318000	0.08050	-1.169000	0.02772	-1.332000	0.01269	CGC		0.617	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		6	633	0	0	0	1	0	6	633					A	3778313	G	A	3778313	3	1	33	1	0	0	0	0	1	0	0	0	3072	1087	38	1	251	1	CDC25B	20	3778313	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08		3778313	59247207	98	3958											
KIF16B	55614	broad.mit.edu	37	chr20	16488699	16488699	+	Frame_Shift_Del	DEL	A	A	-													ttgatattgcccgcatccatAagttcttctacgtcaccata							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:16488699delA	ENST00000354981.2	-	7	760	c.603delT	c.(601-603)cttfs	p.L201fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.L201fs|KIF16B_ENST00000355755.3_Frame_Shift_Del_p.L201fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCATCCATAAGTTCTTCTA	0.433																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(601-603)ctfs		kinesin family member 16B							244	219	228					20																	16488699		2203	4300	6503	SO:0001589	frameshift_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16488699delA	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.603delT	20.37:g.16488699delA	ENSP00000347076:p.Leu201fs					KIF16B_ENST00000355755.3_Frame_Shift_Del_p.L201fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.L201fs	p.L201fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			7	760	-			201			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Frame_Shift_Del	DEL	ENST00000354981.2	37	c.603delT	CCDS13122.1																																																																																				0.433	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		148	1789						148	1789	---	---	---	---	-	16488699	A	-	16488699	7	5	33	1	0	1	0	1	0	0	0	0	8308	349	13	0	3430	0	KIF16B	20	16488699	Frame_Shift_Del	DEL	A	TCGA-3A-A9IS-01A-21D-A397-08	12710386	16488699	46536821	99	3959											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		8	1045						8	1045	---	---	---	---	-	24524185	GGA	-	24524183	7	5	33	1	0	1	0	1	0	0	0	0	16271	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-3A-A9IS-01A-21D-A397-08	8035484	24524183	38501337	100	3960											
BPIL1	80341	broad.mit.edu	37	chr20	31601685	31601685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgtgacccagagctcCatcaggacccctgtggtcag	11	16	2	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:31601685C>T	ENST00000170150.3	+	5	573	c.378C>T	c.(376-378)tcC>tcT	p.S126S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	126						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCCAGAGCTCCATCAGGACCC	0.637																																						ENST00000170150.3																			0											c.(376-378)tcC>tcT		BPI fold containing family B, member 2							53	50	51					20																	31601685		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31601685C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.378C>T	20.37:g.31601685C>T							p.S126S	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			5	573	+			126					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.378C>T	CCDS13210.1																																																																																				0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		88	276	0	0	0	1	0	88	276					T	31601685	C	T	31601685	2	4	33	1	0	0	0	0	0	0	0	1	1495	581	21	2		2	BPIL1	20	31601685	Silent	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08	7077502	31601685	31423835	101	3961											
C20orf152	140894	broad.mit.edu	37	chr20	34618504	34618504	+	Frame_Shift_Del	DEL	C	C	-													atggcaccccagaaatacctCcccccattgaggattgtcca							TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:34618504delC	ENST00000373973.3	+	12	1838	c.1665delC	c.(1663-1665)ctcfs	p.L555fs	CNBD2_ENST00000349339.1_Frame_Shift_Del_p.L551fs|CNBD2_ENST00000538900.1_3'UTR			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	AGAAATACCTCCCCCCATTGA	0.458																																						ENST00000373973.3																			0											c.(1663-1665)ctfs		cyclic nucleotide binding domain containing 2							222	216	218					20																	34618504		2203	4300	6503	SO:0001589	frameshift_variant	140894							g.chr20:34618504delC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1665delC	20.37:g.34618504delC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Del_p.L551fs	p.L555fs							12	1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Del	DEL	ENST00000373973.3	37	c.1665delC																																																																																					0.458	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		8	3200						8	3200	---	---	---	---	-	34618504	C	-	34618504	7	5	33	1	0	1	0	1	0	0	0	0	2099	842	30	0	1699	0	C20orf152	20	34618504	Frame_Shift_Del	DEL	C	TCGA-3A-A9IS-01A-21D-A397-08	3016819	34618504	28407016	102	3962											
ZNF334	55713	broad.mit.edu	37	chr20	45133322	45133322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctctgagcagggtccaGttgctgccattcctcttggg	13	12	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:45133322G>A	ENST00000347606.4	-	3	261	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	ZNF334_ENST00000457685.2_5'UTR|ZNF334_ENST00000593880.1_Missense_Mutation_p.T32I	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCAGGGTCCAGTTGCTGCCAT	0.468																																						ENST00000593880.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(94-96)aCt>aTt		zinc finger protein 334							99	91	94					20																	45133322		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45133322G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.79C>T	20.37:g.45133322G>A						ZNF334_ENST00000347606.4_Silent_p.L27L|ZNF334_ENST00000457685.2_5'UTR	p.T32I			Q9HCZ1	ZN334_HUMAN			2	389	-		Myeloproliferative disorder(115;0.0122)	0			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.95C>T	CCDS33480.1																																																																																				0.468	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			120	455	0	0	0	1	0	120	455					A	45133322	G	A	45133322	2	1	33	1	0	0	0	0	0	0	0	1	17904	1020	36	2		2	ZNF334	20	45133322	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	10514818	45133322	17892198	103	3963											
CDH26	60437	broad.mit.edu	37	chr20	58563985	58563985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatgagactcgcccagcGcaaagcctcatcattgtcgt	9	12	2	1	rs373864822		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:58563985G>A	ENST00000244047.5	+	9	1361	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	CDH26_ENST00000348616.4_Silent_p.A350A			Q8IXH8	CAD26_HUMAN	cadherin 26	350	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)			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)			CTCGCCCAGCGCAAAGCCTCA	0.572																																						ENST00000348616.4																			0				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						c.(1048-1050)gcG>gcA		cadherin 26		G		1,4405	2.1+/-5.4	0,1,2202	53	57	56		1050	-10.8	0	20		56	0,8600		0,0,4300	no	coding-synonymous	CDH26	NM_177980.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		350/833	58563985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58563985G>A	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.1050G>A	20.37:g.58563985G>A						CDH26_ENST00000244047.5_Silent_p.A350A	p.A350A	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1350	+	all_lung(29;0.00963)		350			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1050G>A																																																																																					0.572	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	376	0	0	0	1	0	5	376					A	58563985	G	A	58563985	2	1	33	1	0	0	0	0	0	0	0	1	3119	1074	38	1		1	CDH26	20	58563985	Silent	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	13430663	58563985	4461535	104	3964											
HRH3	11255	broad.mit.edu	37	chr20	60791076	60791076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactcacttccagcagtGctccagggagctgtggggct	14	13	1	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:60791076G>A	ENST00000340177.5	-	3	1608	c.1324C>T	c.(1324-1326)Cac>Tac	p.H442Y	HRH3_ENST00000317393.6_Missense_Mutation_p.H442Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	442					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	TTCCAGCAGTGCTCCAGGGAG	0.662																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1324-1326)Cac>Tac		histamine receptor H3	Histamine Phosphate(DB00667)						34	31	32					20																	60791076		2193	4289	6482	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791076G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1324C>T	20.37:g.60791076G>A	ENSP00000342560:p.His442Tyr					HRH3_ENST00000317393.6_Missense_Mutation_p.H442Y	p.H442Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1608	-	Breast(26;7.76e-09)		442					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.1324C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060368	0.36373	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37411	1.2;1.2	5.01	5.01	0.66863	.	1.071910	0.07156	N	0.849848	T	0.23171	0.0560	N	0.22421	0.69	0.20307	N	0.999911	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.32161	-0.9917	10	0.08837	T	0.75	-8.8133	6.8804	0.24170	0.0885:0.0:0.6862:0.2253	.	442;298;362;442	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	Y	442;442;412	ENSP00000342560:H442Y;ENSP00000321482:H442Y	ENSP00000321482:H442Y	H	-	1	0	HRH3	60224471	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.977000	0.56874	2.318000	0.78349	0.561000	0.74099	CAC		0.662	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		10	32	0	0	0	1	0	10	32					A	60791076	G	A	60791076	3	1	33	1	0	0	0	0	1	0	0	0	7387	1319	46	2	17	2	HRH3	20	60791076	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	2227091	60791076	2234444	105	3965											
PRIC285	85441	broad.mit.edu	37	chr20	62195959	62195959	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggctggccggcagcaTgggcactggctccctgccgg	17	14	0	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:62195959T>A	ENST00000467148.1	-	8	4285	c.4216A>T	c.(4216-4218)Atg>Ttg	p.M1406L	HELZ2_ENST00000427522.2_Missense_Mutation_p.M837L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1406					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCGGCAGCATGGGCACTGGC	0.697																																						ENST00000467148.1																			0											c.(4216-4218)Atg>Ttg		helicase with zinc finger 2, transcriptional coactivator							7	6	7					20																	62195959		2112	4193	6305	SO:0001583	missense	85441							g.chr20:62195959T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4216A>T	20.37:g.62195959T>A	ENSP00000417401:p.Met1406Leu					HELZ2_ENST00000427522.2_Missense_Mutation_p.M837L	p.M1406L	NM_001037335.2	NP_001032412.2					8	4285	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4216A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420934	0.42918	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.57273	0.41;0.41	4.84	1.17	0.20885	Ribonuclease II/R (2);	0.121286	0.85682	N	0.000000	T	0.64864	0.2637	M	0.73319	2.225	0.34494	D	0.705246	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.68985	-0.5265	10	0.87932	D	0	-47.3774	5.9575	0.19281	0.0:0.1501:0.1389:0.711	.	1406;837	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	837;1406	ENSP00000393257:M837L;ENSP00000417401:M1406L	ENSP00000393257:M837L	M	-	1	0	RP4-697K14.7	61666403	1.000000	0.71417	0.112000	0.21494	0.008000	0.06430	2.541000	0.45735	-0.062000	0.13088	0.402000	0.26972	ATG		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	24	0	0	0	1	0	11	24					A	62195959	T	A	62195959	3	1	33	1	0	0	0	0	1	0	0	0	12532	1464	51	5	3781	5	PRIC285	20	62195959	Missense_Mutation	SNP	T	TCGA-3A-A9IS-01A-21D-A397-08	1404883	62195959	829561	106	3966											
TRAPPC10	7109	broad.mit.edu	37	chr21	45522763	45522763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccacatggaagtgatgCcgctcttcgccgggtatctc	13	12	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr21:45522763C>T	ENST00000291574.4	+	22	3626	c.3451C>T	c.(3451-3453)Ccg>Tcg	p.P1151S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1151					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGAAGTGATGCCGCTCTTCGC	0.592																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3451-3453)Ccg>Tcg		trafficking protein particle complex 10							129	115	120					21																	45522763		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522763C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3451C>T	21.37:g.45522763C>T	ENSP00000291574:p.Pro1151Ser						p.P1151S	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			22	3626	+			1151					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3451C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675195	0.88445	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	D	0.83673	-1.75	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90932	0.4791	10	0.87932	D	0	.	19.3933	0.94594	0.0:1.0:0.0:0.0	.	410;1151	B4DI17;P48553	.;TPC10_HUMAN	S	1151;282	ENSP00000291574:P1151S	ENSP00000291574:P1151S	P	+	1	0	TRAPPC10	44347191	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	7.511000	0.81718	2.643000	0.89663	0.650000	0.86243	CCG		0.592	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		5	473	0	0	0	1	0	5	473					T	45522763	C	T	45522763	3	4	33	1	0	0	0	0	1	0	0	0	16510	739	26	2	3537	2	TRAPPC10	21	45522763	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08		45522763	2607132	107	3967											
FAM116B	414918	broad.mit.edu	37	chr22	50752274	50752274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgagcagcgccttgtcgCggtggaggtgggccgtgtaa	18	8	0	1	rs372222188		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr22:50752274C>T	ENST00000413817.3	-	14	1243	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	391					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CGCCTTGTCGCGGTGGAGGTG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10510	0.0		0.0	False		,,,				2504	0.0					ENST00000413817.2																			0											c.(1171-1173)cGc>cAc		DENN/MADD domain containing 6B		C	HIS/ARG	0,4140		0,0,2070	33	38	36		1172	3.6	1	22		36	1,8401		0,1,4200	no	missense	FAM116B	NM_001001794.3	29	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	391/586	50752274	1,12541	2070	4201	6271	SO:0001583	missense	414918							g.chr22:50752274C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1172G>A	22.37:g.50752274C>T	ENSP00000391524:p.Arg391His						p.R391H	NM_001001794.3	NP_001001794.3					14	1243	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1172G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536917	0.65085	0.0	1.19E-4	ENSG00000205593	ENST00000413817	.	.	.	4.85	3.6	0.41247	.	0.054253	0.64402	D	0.000001	T	0.27594	0.0678	L	0.32530	0.975	0.28959	N	0.889941	D;D	0.56521	0.976;0.976	B;B	0.42188	0.379;0.379	T	0.24225	-1.0166	9	0.66056	D	0.02	-23.4264	11.2985	0.49292	0.0:0.8915:0.0:0.1085	.	391;391	Q8NEG7;C9JIV6	F116B_HUMAN;.	H	391	.	ENSP00000391524:R391H	R	-	2	0	FAM116B	49094846	0.686000	0.27661	0.988000	0.46212	0.563000	0.35712	0.885000	0.28227	2.219000	0.72066	0.462000	0.41574	CGC		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		4	208	0	0	0	1	0	4	208					T	50752274	C	T	50752274	3	4	33	1	0	0	0	0	1	0	0	0	5429	768	27	1	613	1	FAM116B	22	50752274	Missense_Mutation	SNP	C	TCGA-3A-A9IS-01A-21D-A397-08		50752274	552292	108	3968											
ATRX	546	broad.mit.edu	37	chrX	76778782	76778782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttcttcttcagtcAactcttcttcttctttgtgg	4	11	9	0			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:76778782A>C	ENST00000373344.5	-	31	7011	c.6797T>G	c.(6796-6798)tTg>tGg	p.L2266W	ATRX_ENST00000395603.3_Missense_Mutation_p.L2228W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCAGTCAACTCTTCTTC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6796-6798)tTg>tGg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						247	202	217					X																	76778782		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778782A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6797T>G	X.37:g.76778782A>C	ENSP00000362441:p.Leu2266Trp					ATRX_ENST00000395603.3_Missense_Mutation_p.L2228W|ATRX_ENST00000480283.1_5'UTR	p.L2266W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7011	-			2266					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6797T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547561	0.45383	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95724	-3.79;-3.79	5.35	5.35	0.76521	.	0.000000	0.53938	U	0.000054	D	0.97742	0.9259	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98541	1.0632	10	0.87932	D	0	-2.7499	14.4136	0.67135	1.0:0.0:0.0:0.0	.	2228;2266	P46100-4;P46100	.;ATRX_HUMAN	W	2266;2228	ENSP00000362441:L2266W;ENSP00000378967:L2228W	ENSP00000362441:L2266W	L	-	2	0	ATRX	76665438	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.957000	0.93082	1.784000	0.52394	0.437000	0.28790	TTG		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		358	13	0	0	0	1	0	358	13					C	76778782	A	C	76778782	3	2	33	1	0	0	0	0	1	0	0	0	1209	131	5	4	701	4	ATRX	23	76778782	Missense_Mutation	SNP	A	TCGA-3A-A9IS-01A-21D-A397-08		76778782	78491778	109	3969											
CDR1	1038	broad.mit.edu	37	chrX	139866027	139866027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcttccagaaaatccacGtcttcccaacaatccaagtc	4	15	2	1			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:139866027G>A	ENST00000370532.2	-	1	696	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	169	6 X 6 AA approximate repeats.							p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423																																						ENST00000370532.2																			1	Substitution - Missense(1)	p.R169C(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(505-507)Cgt>Tgt		cerebellar degeneration-related protein 1, 34kDa							145	149	148					X																	139866027		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866027G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.505C>T	X.37:g.139866027G>A	ENSP00000359563:p.Arg169Cys						p.R169C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	696	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	169			6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.505C>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040083	0.55003	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	1.25	0.21368	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.19775	N	0.999952	B	0.20780	0.048	B	0.13407	0.009	T	0.28713	-1.0035	7	.	.	.	.	6.8292	0.23900	0.3522:0.0:0.6478:0.0	.	169	P51861	CDR1_HUMAN	C	169	.	.	R	-	1	0	CDR1	139693693	0.003000	0.15002	0.069000	0.20011	0.236000	0.25371	-0.134000	0.10436	0.303000	0.22785	0.292000	0.19580	CGT		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		10	299	0	0	0	1	0	10	299					A	139866027	G	A	139866027	3	1	33	1	0	0	0	0	1	0	0	0	3180	1145	40	1	287	1	CDR1	23	139866027	Missense_Mutation	SNP	G	TCGA-3A-A9IS-01A-21D-A397-08	63087245	139866027	15404533	110	3970											
DKC1	1736	broad.mit.edu	37	chrX	153994624	153994624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgactggttgtttaAtcgtgtgcatagaacgagcc	12	8	0	2			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:153994624A>G	ENST00000369550.5	+	5	607	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	133					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTTGTTTAATCGTGTGCAT	0.537									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(397-399)Atc>Gtc		dyskeratosis congenita 1, dyskerin							94	81	85					X																	153994624		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994624A>G	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.397A>G	X.37:g.153994624A>G	ENSP00000358563:p.Ile133Val						p.I133V	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	607	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		133					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.397A>G	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.18|17.18	3.323732|3.323732	0.60634|0.60634	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000369550;ENST00000413910|ENST00000437719	D;D|.	0.87029|.	-2.2;-2.2|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Pseudouridine synthase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69682|0.69682	0.3138|0.3138	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	B;B|.	0.21147|.	0.025;0.052|.	B;B|.	0.26770|.	0.036;0.073|.	T|T	0.68538|0.68538	-0.5382|-0.5382	10|5	0.54805|.	T|.	0.06|.	-14.0917|-14.0917	14.088|14.088	0.64971|0.64971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	133;133|.	A8MUT5;O60832|.	.;DKC1_HUMAN|.	V|S	133|118	ENSP00000358563:I133V;ENSP00000400542:I133V|.	ENSP00000358563:I133V|.	I|N	+|+	1|2	0|0	DKC1|DKC1	153647818|153647818	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.958000|0.958000	0.62258|0.62258	8.806000|8.806000	0.91930|0.91930	2.008000|2.008000	0.58898|0.58898	0.417000|0.417000	0.27973|0.27973	ATC|AAT		0.537	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		10	120	0	0	0	1	0	10	120					G	153994624	A	G	153994624	3	3	33	1	0	0	0	0	1	0	0	0	4558	101	4	4	415	4	DKC1	23	153994624	Missense_Mutation	SNP	A	TCGA-3A-A9IS-01A-21D-A397-08	14128597	153994624	1275936	111	3971											
TAS1R1	80835	broad.mit.edu	37	chr1	6638843	6638845	+	In_Frame_Del	DEL	GCT	GCT	-													gtgctgctggcagctaacacGctgctgctgctgctgctgct							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:6638843_6638845delGCT	ENST00000333172.6	+	6	1918_1920	c.1725_1727delGCT	c.(1723-1728)acgctg>acg	p.L582del	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_In_Frame_Del_p.L328del|TAS1R1_ENST00000328191.4_In_Frame_Del_p.C470del	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	582					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCTAACACgctgctgctgctg	0.611																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1723-1728)acg>ac		taste receptor, type 1, member 1																																				SO:0001651	inframe_deletion	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638843_6638845delGCT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1725_1727delGCT	1.37:g.6638852_6638854delGCT	ENSP00000331867:p.Leu582del					TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del|TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del	p.TL575del	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1918_1920	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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)	575					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	In_Frame_Del	DEL	ENST00000333172.6	37	c.1725_1727delGCT	CCDS81.1																																																																																				0.611	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			7	178						7	178	---	---	---	---	-	6638845	GCT	-	6638843	7	5	34	1	0	1	0	1	0	0	0	0	15614	1087	38	0	1747	0	TAS1R1	1	6638843	In_Frame_Del	DEL	GCT	TCGA-3A-A9IU-01A-11D-A397-08		6638843	242611778	1	3972											
EXOSC10	5394	broad.mit.edu	37	chr1	11128120	11128120	+	Frame_Shift_Del	DEL	T	T	-													gtttcccaccgactgtttaaTttttttggctgcaatgcatt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:11128120delT	ENST00000376936.4	-	24	2621	c.2572delA	c.(2572-2574)attfs	p.I858fs	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	858					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GACTGTTTAATTTTTTTGGCT	0.478																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2572-2574)ttfs		exosome component 10							120	117	118					1																	11128120		2203	4300	6503	SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11128120delT	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2572delA	1.37:g.11128120delT	ENSP00000366135:p.Ile858fs					EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs	p.I858fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	24	2621	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	858					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL	ENST00000376936.4	37	c.2572delA	CCDS30584.1																																																																																				0.478	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		7	480						7	480	---	---	---	---	-	11128120	T	-	11128120	7	5	34	1	0	1	0	1	0	0	0	0	5332	1493	52	0	93	0	EXOSC10	1	11128120	Frame_Shift_Del	DEL	T	TCGA-3A-A9IU-01A-11D-A397-08	4489277	11128120	238122501	2	3973											
LRP8	7804	broad.mit.edu	37	chr1	53728211	53728211	+	Frame_Shift_Del	DEL	C	C	-													tttctcaatcttggcctggtCcccccagtcagaccaataca							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:53728211delC	ENST00000306052.6	-	11	1782	c.1681delG	c.(1681-1683)gacfs	p.D561fs	LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TTGGCCTGGTCCCCCCAGTCA	0.512																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1681-1683)acfs		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							209	210	210					1																	53728211		2203	4300	6503	SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728211delC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1681delG	1.37:g.53728211delC	ENSP00000303634:p.Asp561fs					LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs	p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1782	-			561					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Del	DEL	ENST00000306052.6	37	c.1681delG	CCDS578.1																																																																																				0.512	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		8	1556						8	1556	---	---	---	---	-	53728211	C	-	53728211	7	5	34	1	0	1	0	1	0	0	0	0	9001	855	30	0	1246	0	LRP8	1	53728211	Frame_Shift_Del	DEL	C	TCGA-3A-A9IU-01A-11D-A397-08	42600091	53728211	195522410	3	3974											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			8	968						8	968	---	---	---	---	-	74957826	CTT	-	74957824	6	5	34	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-3A-A9IU-01A-11D-A397-08	21229613	74957824	174292797	4	3975											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	504						7	504	---	---	---	---	T	110300580	-	T	110300579	7	5	34	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	35342755	110300579	138950042	5	3976											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858795	149858795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagctggccatccgcaacGacgaggaactgaacaagctg	11	13	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:149858795G>A	ENST00000331380.2	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597																																						ENST00000331380.2																			1	Substitution - Missense(1)	p.D91H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(271-273)Gac>Aac		histone cluster 2, H2ac							67	68	68					1																	149858795		2203	4296	6499	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858795G>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.271G>A	1.37:g.149858795G>A	ENSP00000332194:p.Asp91Asn						p.D91N	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	271	+	Breast(34;0.0124)|all_hematologic(923;0.127)		91					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.271G>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661156	0.29515	.	.	ENSG00000184260	ENST00000331380	T	0.70282	-0.47	5.56	2.71	0.32032	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.46758	D	0.000261	D	0.82287	0.5004	H	0.94620	3.56	0.33946	D	0.643839	D	0.89917	1.0	D	0.79784	0.993	D	0.84200	0.0450	10	0.72032	D	0.01	.	9.9885	0.41856	0.2101:0.0:0.7899:0.0	.	91	Q16777	H2A2C_HUMAN	N	91	ENSP00000332194:D91N	ENSP00000332194:D91N	D	+	1	0	HIST2H2AC	148125419	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	6.544000	0.73878	0.325000	0.23359	-0.136000	0.14681	GAC		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	548	0	0	0	1	0	5	548					A	149858795	G	A	149858795	3	1	34	1	0	0	0	0	1	0	0	0	7208	1058	37	1	273	1	HIST2H2AC	1	149858795	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	39558216	149858795	99391826	6	3977											
C1orf43	25912	broad.mit.edu	37	chr1	154192337	154192337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcattgtgtcccacagggAcatgaggtccccttcgagat	13	11	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:154192337A>T	ENST00000368521.5	-	2	341	c.143T>A	c.(142-144)gTc>gAc	p.V48D	C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D|UBAP2L_ENST00000428931.1_5'Flank|UBAP2L_ENST00000271877.7_5'Flank|C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D|UBAP2L_ENST00000343815.6_5'Flank|C1orf43_ENST00000350592.3_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	48						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCCCACAGGGACATGAGGTCC	0.428																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(142-144)gTc>gAc		chromosome 1 open reading frame 43							64	62	63					1																	154192337		1859	4100	5959	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154192337A>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.143T>A	1.37:g.154192337A>T	ENSP00000357507:p.Val48Asp					C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D	p.V48D	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			2	341	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		48					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.143T>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736629	0.89482	.	.	ENSG00000143612	ENST00000368521;ENST00000368519;ENST00000368518	.	.	.	6.17	6.17	0.99709	.	0.054326	0.64402	D	0.000001	T	0.72479	0.3465	M	0.75615	2.305	0.80722	D	1	D;D	0.62365	0.982;0.991	P;P	0.62184	0.682;0.899	T	0.76515	-0.2931	9	0.72032	D	0.01	-18.2699	16.0034	0.80327	1.0:0.0:0.0:0.0	.	48;48	Q9BWL3-5;Q9BWL3	.;CA043_HUMAN	D	48	.	ENSP00000357504:V48D	V	-	2	0	C1orf43	152458961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.842000	0.69417	2.371000	0.80710	0.533000	0.62120	GTC		0.428	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		82	310	0	0	0	1	0	82	310					T	154192337	A	T	154192337	3	4	34	1	0	0	0	0	1	0	0	0	2047	275	10	5	642	5	C1orf43	1	154192337	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	4333542	154192337	95058284	7	3978											
TMEM79	84283	broad.mit.edu	37	chr1	156256255	156256255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcactggtctctttgCcgtctcccggtaagttgggg	12	12	4	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:156256255C>T	ENST00000405535.2	+	3	1133	c.962C>T	c.(961-963)gCc>gTc	p.A321V	TMEM79_ENST00000357501.2_Silent_p.C82C|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	321					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)				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)					GGTCTCTTTGCCGTCTCCCGG	0.562																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(961-963)gCc>gTc		transmembrane protein 79							101	104	103					1																	156256255		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256255C>T	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.962C>T	1.37:g.156256255C>T	ENSP00000384748:p.Ala321Val					TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C82C|TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V	p.A321V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			3	1133	+	Hepatocellular(266;0.158)		321					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.962C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663832	0.67700	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.50277	0.75;0.75	5.62	5.62	0.85841	.	0.169075	0.52532	D	0.000061	T	0.29684	0.0741	N	0.11427	0.14	0.58432	D	0.999999	P	0.51537	0.946	P	0.52646	0.705	T	0.10989	-1.0606	10	0.30854	T	0.27	-1.5462	16.3903	0.83532	0.0:1.0:0.0:0.0	.	321	Q9BSE2	TMM79_HUMAN	V	321	ENSP00000295694:A321V;ENSP00000384748:A321V	ENSP00000295694:A321V	A	+	2	0	TMEM79	154522879	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	4.836000	0.62789	2.645000	0.89757	0.462000	0.41574	GCC		0.562	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		6	612	0	0	0	1	0	6	612					T	156256255	C	T	156256255	3	4	34	1	0	0	0	0	1	0	0	0	16255	739	26	2	968	2	TMEM79	1	156256255	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	2063918	156256255	92994366	8	3979											
OR10Z1	128368	broad.mit.edu	37	chr1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-													gaatgctctctggcctggctGggggggaccaggctatctcc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)gggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGCCTGGCTGGGGGGGACCA	0.552																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(259-261)ggfs		olfactory receptor, family 10, subfamily Z, member 1							183	191	188					1																	158576487		2203	4300	6503	SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576487delG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.259delG	1.37:g.158576487delG	ENSP00000354707:p.Gly88fs						p.G88fs	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	259	+	all_hematologic(112;0.0378)		88					Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.259delG	CCDS30901.1																																																																																				0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		7	1190						7	1190	---	---	---	---	-	158576487	G	-	158576487	7	5	34	1	0	1	0	1	0	0	0	0	10965	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Del	DEL	G	TCGA-3A-A9IU-01A-11D-A397-08	2320232	158576487	90674134	9	3980											
KCNJ9	3765	broad.mit.edu	37	chr1	160054516	160054516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgacctcagcgtgggcttCgacacgggagacgaccgcct	13	15	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:160054516C>T	ENST00000368088.3	+	2	938	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	232					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGTGGGCTTCGACACGGGAG	0.682																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(694-696)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 9							12	11	12					1																	160054516		2199	4289	6488	SO:0001819	synonymous_variant	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054516C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.696C>T	1.37:g.160054516C>T							p.F232F	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	938	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		232					Q5JW75	Silent	SNP	ENST00000368088.3	37	c.696C>T	CCDS1194.1																																																																																				0.682	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		3	52	0	0	0	1	0	3	52					T	160054516	C	T	160054516	2	4	34	1	0	0	0	0	0	0	0	1	8087	883	31	1		1	KCNJ9	1	160054516	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	1478029	160054516	89196105	10	3981											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		11	526						11	526	---	---	---	---	A	183515267	-	A	183515266	7	5	34	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	23460750	183515266	65735355	11	3982											
FLVCR1	28982	broad.mit.edu	37	chr1	213061902	213061903	+	Frame_Shift_Ins	INS	-	-	TACT													acttaccctgaatctgaaggINStacttcatctggtcttctta							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:213061902_213061903insTACT	ENST00000366971.4	+	7	1577_1578	c.1379_1380insTACT	c.(1378-1383)ggtactfs	p.-461fs	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAATCTGAAGGTACTTCATCTG	0.361																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1378-1380)gacfs		feline leukemia virus subgroup C cellular receptor 1																																				SO:0001589	frameshift_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213061902_213061903insTACT	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1380_1383dupTACT	1.37:g.213061903_213061906dupTACT	ENSP00000355938:p.Thr461fs					FLVCR1_ENST00000483790.1_3'UTR	p.D460fs	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	7	1577_1578	+			460					Q1HE16|Q86XY9|Q9NVR9	Frame_Shift_Ins	INS	ENST00000366971.4	37	c.1379_1380insTACT	CCDS1510.1																																																																																				0.361	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		82	437						82	437	---	---	---	---	TACT	213061903	-	TACT	213061902	7	5	34	1	0	1	1	0	0	0	0	0	5970	1261	44	0	1405	0	FLVCR1	1	213061902	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	29546636	213061902	36188719	12	3983											
PGBD5	79605	broad.mit.edu	37	chr1	230461101	230461101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtagctcaggtgagcgGcaaacgcctccacggccaag	13	12	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:230461101G>A	ENST00000525115.1	-	6	1150	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000321327.2_Missense_Mutation_p.A475V			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	376						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CAGGTGAGCGGCAAACGCCTC	0.547																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1423-1425)gCc>gTc		piggyBac transposable element derived 5							260	230	240					1																	230461101		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230461101G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1127C>T	1.37:g.230461101G>A	ENSP00000431404:p.Ala376Val					PGBD5_ENST00000525115.1_Missense_Mutation_p.A376V|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V	p.A475V			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	8	1423	-	Breast(184;0.0397)	Prostate(94;0.167)	376					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1424C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.128349	0.94473	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.17370	2.28;2.28;2.28	5.17	5.17	0.71159	.	0.050861	0.85682	D	0.000000	T	0.29190	0.0726	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03761	-1.1006	10	0.25106	T	0.35	-15.5767	19.0983	0.93263	0.0:0.0:1.0:0.0	.	376;66	Q8N414;B4DM72	PGBD5_HUMAN;.	V	330;475;376	ENSP00000375733:A330V;ENSP00000322530:A475V;ENSP00000431404:A376V	ENSP00000322530:A475V	A	-	2	0	PGBD5	228527724	1.000000	0.71417	0.678000	0.29963	0.984000	0.73092	9.778000	0.99011	2.598000	0.87819	0.555000	0.69702	GCC		0.547	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		6	711	0	0	0	1	0	6	711					A	230461101	G	A	230461101	3	1	34	1	0	0	0	0	1	0	0	0	11826	1203	42	2	248	2	PGBD5	1	230461101	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	17399199	230461101	18789520	13	3984											
ROCK2	9475	broad.mit.edu	37	chr2	11337396	11337396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcttggagttgtgaccGcagctgctcaatgtcactgt	12	10	2	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:11337396G>A	ENST00000315872.6	-	27	3806	c.3358C>T	c.(3358-3360)Cgg>Tgg	p.R1120W	ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1120					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTGTGACCGCAGCTGCTCA	0.438																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3358-3360)Cgg>Tgg		Rho-associated, coiled-coil containing protein kinase 2							125	119	121					2																	11337396		1980	4166	6146	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337396G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3358C>T	2.37:g.11337396G>A	ENSP00000317985:p.Arg1120Trp					ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W	p.R1120W	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3806	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1120					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3358C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302523	0.81136	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64803	-0.12;0.93	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.71581	2.175	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	T	0.80453	-0.1376	10	0.87932	D	0	.	14.8283	0.70130	0.0692:0.0:0.9308:0.0	.	1120	O75116	ROCK2_HUMAN	W	1120;877;478	ENSP00000317985:R1120W;ENSP00000385509:R877W	ENSP00000317985:R1120W	R	-	1	2	ROCK2	11254847	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.726000	0.54977	1.418000	0.47098	0.563000	0.77884	CGG		0.438	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			5	435	0	0	0	1	0	5	435					A	11337396	G	A	11337396	3	1	34	1	0	0	0	0	1	0	0	0	13568	1086	38	1	836	1	ROCK2	2	11337396	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		11337396	231861977	14	3985											
FOSL2	2355	broad.mit.edu	37	chr2	28635275	28635275	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtagcagcggggaccaatCatcagactccttgaactccc	9	14	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:28635275C>T	ENST00000264716.4	+	4	1804	c.941C>T	c.(940-942)tCa>tTa	p.S314L	FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L|FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	314					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGGGACCAATCATCAGACTCC	0.622																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(940-942)tCa>tTa		FOS-like antigen 2							53	50	51					2																	28635275		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635275C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.941C>T	2.37:g.28635275C>T	ENSP00000264716:p.Ser314Leu					FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L	p.S314L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1804	+	Acute lymphoblastic leukemia(172;0.155)		314					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.941C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217527	0.95104	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000545753	D;T;D	0.86497	-2.06;-1.13;-2.13	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	M	0.77616	2.38	0.80722	D	1	P	0.47762	0.9	B	0.40602	0.334	D	0.90308	0.4335	10	0.87932	D	0	-0.9556	19.8481	0.96728	0.0:1.0:0.0:0.0	.	314	P15408	FOSL2_HUMAN	L	306;314;275	ENSP00000368939:S306L;ENSP00000264716:S314L;ENSP00000439303:S275L	ENSP00000264716:S314L	S	+	2	0	FOSL2	28488779	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.804000	0.62554	2.693000	0.91896	0.655000	0.94253	TCA		0.622	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		54	145	0	0	0	1	0	54	145					T	28635275	C	T	28635275	3	4	34	1	0	0	0	0	1	0	0	0	6013	838	29	2	955	2	FOSL2	2	28635275	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	17297879	28635275	214564098	15	3986											
TTC27	55622	broad.mit.edu	37	chr2	33003024	33003024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcaaaggcatttcagCgctgtgtgactctagaaccc	10	11	3	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:33003024C>T	ENST00000317907.4	+	14	1987	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	586			R -> H (in dbSNP:rs17012268).							breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGCATTTCAGCGCTGTGTGAC	0.438																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1756-1758)Cgc>Tgc		tetratricopeptide repeat domain 27							202	187	192					2																	33003024		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33003024C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1756C>T	2.37:g.33003024C>T	ENSP00000313953:p.Arg586Cys						p.R586C	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			14	1987	+			586		R -> H (in dbSNP:rs17012268).			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1756C>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557601	0.65425	.	.	ENSG00000018699	ENST00000317907	T	0.61859	0.07	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049606	0.64402	D	0.000001	D	0.85230	0.5649	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90675	0.4601	10	0.87932	D	0	-9.9189	19.0041	0.92843	0.0:1.0:0.0:0.0	.	586	Q6P3X3	TTC27_HUMAN	C	586	ENSP00000313953:R586C	ENSP00000313953:R586C	R	+	1	0	TTC27	32856528	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	4.480000	0.60243	2.465000	0.83290	0.557000	0.71058	CGC		0.438	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		4	247	0	0	0	1	0	4	247					T	33003024	C	T	33003024	3	4	34	1	0	0	0	0	1	0	0	0	16749	768	27	1	1810	1	TTC27	2	33003024	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	4367749	33003024	210196349	16	3987											
MOGS	7841	broad.mit.edu	37	chr2	74690035	74690035	+	Frame_Shift_Del	DEL	G	G	-													gcaagccgaggtagcgttcaGggggggcccctgggggccga					rs184209905	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:74690035delG	ENST00000233616.4	-	4	1043	c.881delC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTAGCGTTCAGGGGGGGCCCC	0.587																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(880-882)ctfs		mannosyl-oligosaccharide glucosidase							113	121	118					2																	74690035		1954	4148	6102	SO:0001589	frameshift_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690035delG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.881delC	2.37:g.74690035delG	ENSP00000233616:p.Pro294fs					MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR	p.P294fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1043	-			294					A8K938|F5H6D0|Q17RN9|Q8TCT5	Frame_Shift_Del	DEL	ENST00000233616.4	37	c.881delC	CCDS42700.1																																																																																				0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		8	846						8	846	---	---	---	---	-	74690035	G	-	74690035	7	5	34	1	0	1	0	1	0	0	0	0	9738	1000	35	0	1636	0	MOGS	2	74690035	Frame_Shift_Del	DEL	G	TCGA-3A-A9IU-01A-11D-A397-08	41687011	74690035	168509338	17	3988											
LMAN2L	81562	broad.mit.edu	37	chr2	97400208	97400208	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccccatgcagattcttctttCcttgtccatggattttgaag	7	11	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:97400208C>G	ENST00000264963.4	-	3	384	c.362G>C	c.(361-363)gGa>gCa	p.G121A	LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	121	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ATTCTTCTTTCCTTGTCCATG	0.468																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(361-363)gGa>gCa		lectin, mannose-binding 2-like							236	210	219					2																	97400208		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97400208C>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.362G>C	2.37:g.97400208C>G	ENSP00000264963:p.Gly121Ala					LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A	p.G121A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			3	384	-			121			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.362G>C	CCDS2023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.011148|4.011148	0.75046|0.75046	.|.	.|.	ENSG00000114988|ENSG00000114988	ENST00000426463;ENST00000534882|ENST00000264963;ENST00000377079	T;T|T;T	0.78924|0.63255	-1.22;-1.16|-0.03;-0.03	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	B;B|D;D	0.20550|0.89917	0.046;0.046|0.986;1.0	B;B|P;D	0.22386|0.91635	0.039;0.039|0.768;0.999	T|T	0.82348|0.82348	-0.0502|-0.0502	9|10	0.39692|0.56958	T|D	0.17|0.05	.|.	19.1527|19.1527	0.93495|0.93495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4;4|121;121	B4DVH1;B4DSH3|Q9H0V9-2;Q9H0V9	.;.|.;LMA2L_HUMAN	Q|A	4|121	ENSP00000396391:E4Q;ENSP00000438501:E4Q|ENSP00000264963:G121A;ENSP00000366280:G121A	ENSP00000396391:E4Q|ENSP00000264963:G121A	E|G	-|-	1|2	0|0	LMAN2L|LMAN2L	96763935|96763935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.468000|7.468000	0.80943|0.80943	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.468	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		85	207	0	0	0	1	0	85	207					G	97400208	C	G	97400208	3	3	34	1	0	0	0	0	1	0	0	0	8872	855	30	5	745	5	LMAN2L	2	97400208	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	22710173	97400208	145799165	18	3989											
NMS	129521	broad.mit.edu	37	chr2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcacctctttctcGccaacctaaggtaaaaaaat	7	11	3	0	rs201102943		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:101089991G>A	ENST00000376865.1	+	3	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		9711	0.0		0.0	False		,,,				2504	0.0					ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(172-174)cGc>cAc		neuromedin S							47	46	46					2																	101089991		2177	4298	6475	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089991G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.173G>A	2.37:g.101089991G>A	ENSP00000366061:p.Arg58His						p.R58H	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			3	180	+			58						Missense_Mutation	SNP	ENST00000376865.1	37	c.173G>A	CCDS33259.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.177	-0.168837	0.06461	.	.	ENSG00000204640	ENST00000376865	T	0.23754	1.89	3.81	-3.39	0.04868	.	1.207740	0.05936	N	0.636093	T	0.16428	0.0395	L	0.44542	1.39	0.09310	N	1	P	0.46220	0.874	B	0.35971	0.215	T	0.25222	-1.0138	10	0.45353	T	0.12	3.2782	4.8169	0.13371	0.5921:0.0:0.2415:0.1664	.	58	Q5H8A3	NMS_HUMAN	H	58	ENSP00000366061:R58H	ENSP00000366061:R58H	R	+	2	0	NMS	100456423	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.190000	0.09615	-0.676000	0.05238	0.650000	0.86243	CGC		0.343	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		39	121	0	0	0	1	0	39	121					A	101089991	G	A	101089991	3	1	34	1	0	0	0	0	1	0	0	0	10544	1087	38	1	183	1	NMS	2	101089991	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	3689783	101089991	142109382	19	3990											
SULT1C3	442038	broad.mit.edu	37	chr2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-													gaaaaacgctcccacgatggAaaaaaagccagaactgttta							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90	96	94					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		8	511						8	511	---	---	---	---	-	108863685	A	-	108863685	7	5	34	1	0	1	0	1	0	0	0	0	15430	246	9	0	37	0	SULT1C3	2	108863685	Frame_Shift_Del	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08	7773694	108863685	134335688	20	3991											
RGPD5	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80	72	74					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		7	1857						7	1857	---	---	---	---	-	113147636	A	-	113147636	7	5	34	1	0	1	0	1	0	0	0	0	13339	127	5	0	13441	0	RGPD5	2	113147636	Frame_Shift_Del	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08	4283951	113147636	130051737	21	3992											
SMPD4	55627	broad.mit.edu	37	chr2	130910653	130910653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacagcctaaagagtgtgCggaccaagctggcgatctca	12	11	1	1	rs369700397		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:130910653C>T	ENST00000409031.1	-	19	3382	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	706					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAAGAGTGTGCGGACCAAGCT	0.582																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2233-2235)cGc>cAc		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)	C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	78	88	84		1928,2147,2234	4.1	0.9	2		84	0,8600		0,0,4300	no	missense,missense,missense	SMPD4	NM_001171083.2,NM_017751.4,NM_017951.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	643/765,716/838,745/867	130910653	1,13005	2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130910653C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2234G>A	2.37:g.130910653C>T	ENSP00000386531:p.Arg745His					SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H	p.R745H	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			19	3382	-	Colorectal(110;0.1)		706					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2234G>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.14|18.14	3.557063|3.557063	0.65425|0.65425	2.27E-4|2.27E-4	0.0|0.0	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79604|0.79604	0.4474|0.4474	M|M	0.82323|0.82323	2.585|2.585	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D	.|0.85130	.|0.984;0.987;0.995;0.989;0.997;0.937;0.959;0.997;0.993;0.984	T|T	0.83285|0.83285	-0.0036|-0.0036	5|9	.|0.72032	.|D	.|0.01	.|.	13.8586|13.8586	0.63545|0.63545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|381;486;643;603;494;677;706;745;752;277	.|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.|.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	T|H	620|716;745;643;494;409;603;486;381	.|.	.|ENSP00000339721:R603H	A|R	-|-	1|2	0|0	SMPD4|SMPD4	130627123|130627123	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.066000|0.066000	0.16364|0.16364	7.434000|7.434000	0.80377|0.80377	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GCA|CGC		0.582	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		5	430	0	0	0	1	0	5	430					T	130910653	C	T	130910653	3	4	34	1	0	0	0	0	1	0	0	0	14857	768	27	1	374	1	SMPD4	2	130910653	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	17763017	130910653	112288720	22	3993											
ITGA6	3655	broad.mit.edu	37	chr2	173333951	173333951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcctgagtcagaatctcagGattgaagacgatatggatgg	13	6	2	4			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:173333951G>T	ENST00000264106.6	+	4	689	c.486G>T	c.(484-486)agG>agT	p.R162S	ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S|ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000375221.2_Missense_Mutation_p.R162S|ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S			P23229	ITA6_HUMAN	integrin, alpha 6	162					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)			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)			AGAATCTCAGGATTGAAGACG	0.473																																						ENST00000375221.2																			0				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						c.(484-486)agG>agT		integrin, alpha 6							179	172	175					2																	173333951		2203	4300	6503	SO:0001583	missense	0				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.chr2:173333951G>T		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.486G>T	2.37:g.173333951G>T	ENSP00000264106:p.Arg162Ser					ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S|ITGA6_ENST00000264106.6_Missense_Mutation_p.R162S|ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S	p.R162S			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	689	+			162					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.486G>T		.	.	.	.	.	.	.	.	.	.	G	11.49	1.653589	0.29425	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	6.17	-0.233	0.13078	.	0.138320	0.64402	D	0.000003	T	0.23370	0.0565	N	0.01152	-0.98	0.36788	D	0.884674	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.18555	-1.0333	10	0.06365	T	0.9	.	0.6097	0.00759	0.3751:0.2013:0.241:0.1826	.	162;162;162	P23229-4;G5E9H1;P23229-2	.;.;.	S	48;48;162;162;162;162;162;162;162	ENSP00000413470:R48S;ENSP00000386614:R48S;ENSP00000264107:R162S;ENSP00000264106:R162S;ENSP00000364369:R162S;ENSP00000341078:R162S;ENSP00000386896:R162S;ENSP00000406694:R162S;ENSP00000394169:R162S	ENSP00000264106:R162S	R	+	3	2	ITGA6	173042197	0.334000	0.24739	1.000000	0.80357	0.995000	0.86356	0.224000	0.17738	0.471000	0.27319	0.655000	0.94253	AGG		0.473	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				10	637	1	0	0.000673444	1	0.000684306	10	637					T	173333951	G	T	173333951	3	4	34	1	0	0	0	0	1	0	0	0	7910	1165	41	3	500	3	ITGA6	2	173333951	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	42423298	173333951	69865422	23	3994											
CHRNA1	1134	broad.mit.edu	37	chr2	175612881	175612881	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatttaattcaatgagtcGacctgcaaacacggctaggg	10	9	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:175612881G>A	ENST00000261007.5	-	10	1486	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369*|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*|CHRNA1_ENST00000348749.5_Nonsense_Mutation_p.R449*|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	474					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TCAATGAGTCGACCTGCAAAC	0.502																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(1345-1347)Cga>Tga		cholinergic receptor, nicotinic, alpha 1 (muscle)							97	89	92					2																	175612881		2203	4300	6503	SO:0001587	stop_gained	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175612881G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1420C>T	2.37:g.175612881G>A	ENSP00000261007:p.Arg474*					CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.R474*|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369*	p.R449*	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			9	1422	-			474					B4DRV6|D3DPE8	Nonsense_Mutation	SNP	ENST00000261007.5	37	c.1345C>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913560	0.97099	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	.	.	.	5.24	5.24	0.73138	.	0.159217	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.1987	0.93701	0.0:0.0:1.0:0.0	.	.	.	.	X	449;474;367;369	.	ENSP00000261007:R474X	R	-	1	2	CHRNA1	175321127	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.397000	0.73239	2.607000	0.88179	0.655000	0.94253	CGA		0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			4	244	0	0	0	1	0	4	244					A	175612881	G	A	175612881	4	1	34	1	0	0	0	0	0	1	0	0	3390	1066	37	1	32	1	CHRNA1	2	175612881	Nonsense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	2278930	175612881	67586492	24	3995											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		7	218						7	218	---	---	---	---	T	234394237	-	T	234394236	7	5	34	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	58781355	234394236	8805137	25	3996											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	279						9	279	---	---	---	---	-	49094316	TGC	-	49094314	7	5	34	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-3A-A9IU-01A-11D-A397-08		49094314	148928116	26	3997											
GRM2	2912	broad.mit.edu	37	chr3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctttttgcactggaccGcatcaaccgtgacccgcacc	8	16	1	1	rs200502357		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCACTGGACCGCATCAACCGT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(211-213)cGc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						127	115	119					3																	51743211		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743211G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.212G>A	3.37:g.51743211G>A	ENSP00000378492:p.Arg71His					GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron	p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	446	+			71					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.212G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247197	0.80024	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86497	-2.13;-2.13	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.167226	0.46758	D	0.000274	T	0.81093	0.4751	L	0.56199	1.76	0.42153	D	0.991563	B	0.28419	0.211	B	0.21917	0.037	T	0.78252	-0.2276	10	0.62326	D	0.03	.	5.1701	0.15105	0.2123:0.1632:0.6245:0.0	.	71	Q14416	GRM2_HUMAN	H	71	ENSP00000378492:R71H;ENSP00000408906:R71H	ENSP00000296479:R71H	R	+	2	0	GRM2	51718251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.691000	0.54720	1.245000	0.43885	-0.137000	0.14449	CGC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			6	670	0	0	0	1	0	6	670					A	51743211	G	A	51743211	3	1	34	1	0	0	0	0	1	0	0	0	6827	1087	38	1	214	1	GRM2	3	51743211	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	2648897	51743211	146279219	27	3998											
STAB1	23166	broad.mit.edu	37	chr3	52555958	52555958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaaggggatggccgtGtgtgtacaggtaagcagatg	17	5	0	2	rs386660931|rs144247661		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:52555958G>A	ENST00000321725.6	+	58	6338	c.6262G>A	c.(6262-6264)Gtg>Atg	p.V2088M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2088	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.V2088L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGGCCGTGTGTGTACAGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20757	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6																			1	Substitution - Missense(1)	p.V2088L(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6262-6264)Gtg>Atg		stabilin 1		G	MET/VAL	3,4401	2.1+/-5.4	0,3,2199	122	117	119		6262	-2.3	0	3	dbSNP_134	119	0,8600		0,0,4300	yes	missense	STAB1	NM_015136.2	21	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	2088/2571	52555958	3,13001	2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52555958G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6262G>A	3.37:g.52555958G>A	ENSP00000312946:p.Val2088Met						p.V2088M	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	58	6338	+			2088			EGF-like 14.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6262G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558925	0.13436	6.81E-4	0.0	ENSG00000010327	ENST00000321725	D	0.87571	-2.27	5.75	-2.33	0.06724	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	1.447070	0.03638	N	0.239087	T	0.71005	0.3289	N	0.08118	0	0.09310	N	1	P	0.38148	0.62	B	0.36885	0.235	T	0.64597	-0.6370	10	0.66056	D	0.02	.	0.7708	0.01024	0.384:0.1181:0.262:0.2359	.	2088	Q9NY15	STAB1_HUMAN	M	2088	ENSP00000312946:V2088M	ENSP00000312946:V2088M	V	+	1	0	STAB1	52530998	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.653000	0.24902	-0.277000	0.09193	-1.130000	0.01982	GTG		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		63	167	0	0	0	1	0	63	167					A	52555958	G	A	52555958	3	1	34	1	0	0	0	0	1	0	0	0	15289	1377	48	2	6492	2	STAB1	3	52555958	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	812747	52555958	145466472	28	3999											
ILDR1	286676	broad.mit.edu	37	chr3	121720701	121720701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatcacttcatttatcacGagatctgctcctacacagta	4	13	4	1	rs202089487		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:121720701G>A	ENST00000344209.5	-	4	516	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ILDR1_ENST00000273691.3_Silent_p.L130L|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.L142L	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	130	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CATTTATCACGAGATCTGCTC	0.517																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(388-390)ctC>ctT		immunoglobulin-like domain containing receptor 1							149	139	142					3																	121720701		2203	4300	6503	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121720701G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.390C>T	3.37:g.121720701G>A						ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000462014.1_Silent_p.L142L|ILDR1_ENST00000344209.5_Silent_p.L130L	p.L130L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	495	-			130			Ig-like V-type.		Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.390C>T	CCDS56271.1																																																																																				0.517	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		57	150	0	0	0	1	0	57	150					A	121720701	G	A	121720701	2	1	34	1	0	0	0	0	0	0	0	1	7739	1045	37	1		1	ILDR1	3	121720701	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	69164743	121720701	76301729	29	4000											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A													ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	195						8	195	---	---	---	---	A	122433232	-	A	122433231	7	5	34	1	0	1	1	0	0	0	0	0	11500	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	712530	122433231	75589199	30	4001											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	771						7	771	---	---	---	---	-	150877786	C	-	150877786	7	5	34	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-3A-A9IU-01A-11D-A397-08	28444555	150877786	47144644	31	4002											
TNIK	23043	broad.mit.edu	37	chr3	170786732	170786732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataacctttaatctttgacCttcttctaccgtgagatcaa	4	10	4	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:170786732C>T	ENST00000436636.2	-	30	3948	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1202	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATCTTTGACCTTCTTCTACC	0.388																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3604-3606)Ggt>Agt		TRAF2 and NCK interacting kinase							160	156	157					3																	170786732		1853	4092	5945	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170786732C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3604G>A	3.37:g.170786732C>T	ENSP00000399511:p.Gly1202Ser					TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S	p.G1202S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		30	3948	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1202			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3604G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954878	0.92726	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75154	-0.89;-0.88;-0.9;-0.9;-0.89;-0.89;-0.9;-0.9;-0.91;-0.89	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.77616	2.38	0.80722	D	1	D;P;P;P;P;D;P;P;D	0.61080	0.979;0.748;0.863;0.884;0.748;0.986;0.936;0.884;0.989	P;B;B;B;B;P;B;B;P	0.61003	0.882;0.319;0.437;0.41;0.319;0.8;0.437;0.41;0.874	D	0.86263	0.1656	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1154;1110;1165;1139;1118;1194;1173;1147;1202	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	S	1202;1180;1154;1118;1194;1110;1173;1139;1147;1165	ENSP00000399511:G1202S;ENSP00000358332:G1180S;ENSP00000443278:G1154S;ENSP00000345352:G1118S;ENSP00000284483:G1194S;ENSP00000418156:G1110S;ENSP00000349880:G1173S;ENSP00000418916:G1139S;ENSP00000418378:G1147S;ENSP00000419990:G1165S	ENSP00000284483:G1194S	G	-	1	0	TNIK	172269426	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.920000	0.70017	2.882000	0.98803	0.655000	0.94253	GGT		0.388	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		113	302	0	0	0	1	0	113	302					T	170786732	C	T	170786732	3	4	34	1	0	0	0	0	1	0	0	0	16365	681	24	2	494	2	TNIK	3	170786732	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	19908946	170786732	27235698	32	4003											
FETUB	26998	broad.mit.edu	37	chr3	186370137	186370137	+	Frame_Shift_Del	DEL	C	C	-													agaatcccagcagaaaaacaCccccccaacagactccccct					rs540157028		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:186370137delC	ENST00000265029.3	+	7	967	c.866delC	c.(865-867)accfs	p.T289fs	FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAAACACCCCCCCAACA	0.498																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(865-867)acfs		fetuin B							94	108	103					3																	186370137		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370137delC	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.866delC	3.37:g.186370137delC	ENSP00000265029:p.Thr289fs					FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|RP11-134F2.2_ENST00000455926.1_RNA	p.T289fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	967	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		289					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.866delC	CCDS3279.1																																																																																				0.498	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		7	987						7	987	---	---	---	---	-	186370137	C	-	186370137	7	5	34	1	0	1	0	1	0	0	0	0	5846	507	18	0	892	0	FETUB	3	186370137	Frame_Shift_Del	DEL	C	TCGA-3A-A9IU-01A-11D-A397-08	15583405	186370137	11652293	33	4004											
PCYT1A	5130	broad.mit.edu	37	chr3	195975170	195975170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtcaaatattccatcgGcataaactctcacaggtcgc	6	11	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:195975170G>A	ENST00000292823.2	-	5	414	c.242C>T	c.(241-243)gCc>gTc	p.A81V	PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|PCYT1A_ENST00000491544.1_5'UTR|RP11-447L10.1_ENST00000431391.1_3'UTR|AC069257.8_ENST00000608995.1_RNA|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V|AC069257.8_ENST00000425275.1_RNA	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	81					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	TATTCCATCGGCATAAACTCT	0.383																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(241-243)gCc>gTc		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						83	83	83					3																	195975170		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195975170G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.242C>T	3.37:g.195975170G>A	ENSP00000292823:p.Ala81Val					PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V	p.A81V	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	5	414	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		81			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.242C>T	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.769299	0.90020	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000430755;ENST00000412869;ENST00000443555	D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.67	5.67	0.87782	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.044612	0.85682	D	0.000000	D	0.97334	0.9128	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98016	1.0368	10	0.87932	D	0	-4.6307	18.8171	0.92081	0.0:0.0:1.0:0.0	.	81	P49585	PCY1A_HUMAN	V	81;81;81;42;81;81;15;81;81	ENSP00000392397:A81V;ENSP00000390968:A81V;ENSP00000292823:A81V;ENSP00000394617:A81V;ENSP00000400430:A81V;ENSP00000402283:A15V;ENSP00000402015:A81V;ENSP00000393341:A81V	ENSP00000292823:A81V	A	-	2	0	PCYT1A	197459567	1.000000	0.71417	0.998000	0.56505	0.423000	0.31445	9.472000	0.97709	2.686000	0.91538	0.645000	0.84053	GCC		0.383	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		5	346	0	0	0	1	0	5	346					A	195975170	G	A	195975170	3	1	34	1	0	0	0	0	1	0	0	0	11652	1203	42	2	885	2	PCYT1A	3	195975170	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	9605033	195975170	2047260	34	4005											
SORCS2	57537	broad.mit.edu	37	chr4	7533314	7533314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcctggtgtcaccacCgtcatcgacaatttctacat	6	15	3	0	rs371851041		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:7533314C>T	ENST00000507866.2	+	3	715	c.606C>T	c.(604-606)acC>acT	p.T202T	SORCS2_ENST00000329016.9_Silent_p.T30T|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	202					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTGTCACCACCGTCATCGACA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20651	0.0		0.0	False		,,,				2504	0.001					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(604-606)acC>acT		sortilin-related VPS10 domain containing receptor 2		C		1,4201		0,1,2100	90	102	98		606	-7.2	0.4	4		98	0,8404		0,0,4202	no	coding-synonymous	SORCS2	NM_020777.2		0,1,6302	TT,TC,CC		0.0,0.0238,0.0079		202/1160	7533314	1,12605	2101	4202	6303	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7533314C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.606C>T	4.37:g.7533314C>T						SORCS2_ENST00000329016.9_Silent_p.T30T|SORCS2_ENST00000511199.1_3'UTR	p.T202T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			3	715	+			202					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.606C>T	CCDS47008.1																																																																																				0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		49	126	0	0	0	1	0	49	126					T	7533314	C	T	7533314	2	4	34	1	0	0	0	0	0	0	0	1	14981	639	23	1		1	SORCS2	4	7533314	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		7533314	183620962	35	4006											
NDST4	64579	broad.mit.edu	37	chr4	115751026	115751026	+	Frame_Shift_Del	DEL	A	A	-													tccttccagtaattgacaccAaaaacccttttggggatcaa							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:115751026delA	ENST00000264363.2	-	13	3097	c.2419delT	c.(2419-2421)tggfs	p.W807fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	807	Heparan sulfate N-sulfotransferase 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)			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)		AATTGACACCAAAAACCCTTT	0.353																																						ENST00000264363.2																			0				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						c.(2419-2421)ggfs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							78	79	78					4																	115751026		2203	4300	6503	SO:0001589	frameshift_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115751026delA	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.2419delT	4.37:g.115751026delA	ENSP00000264363:p.Trp807fs						p.W807fs	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3097	-		Ovarian(17;0.156)	807			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Frame_Shift_Del	DEL	ENST00000264363.2	37	c.2419delT	CCDS3706.1																																																																																				0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	334						7	334	---	---	---	---	-	115751026	A	-	115751026	7	5	34	1	0	1	0	1	0	0	0	0	10300	130	5	0	207	0	NDST4	4	115751026	Frame_Shift_Del	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08	108217712	115751026	75403250	36	4007											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	386						9	386	---	---	---	---	-	146077125	CAG	-	146077123	7	5	34	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-3A-A9IU-01A-11D-A397-08	30326097	146077123	45077153	37	4008											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			7	74	0	0	0	1	0	7	74					G	149075976	T	G	149075976	2	3	34	1	0	0	0	0	0	0	0	1	10673	1683	59	4		4	NR3C2	4	149075976	Silent	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	2998853	149075976	42078300	38	4009											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		5	48	0	0	0	1	0	5	48					G	164050124	T	G	164050124	2	3	34	1	0	0	0	0	0	0	0	1	10181	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	14974148	164050124	27104152	39	4010											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000448662.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	261						9	261	---	---	---	---	-	186544622	GGT	-	186544620	7	5	34	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-3A-A9IU-01A-11D-A397-08	22494496	186544620	4609656	40	4011											
ZNF366	167465	broad.mit.edu	37	chr5	71739906	71739906	+	Frame_Shift_Del	DEL	G	G	-													tgtgcagagctgctggctctGgggggccaggccagggctgt					rs188688331		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:71739906delG	ENST00000318442.5	-	5	2402	c.1912delC	c.(1912-1914)cagfs	p.Q638fs	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	638	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCTGGCTCTGGGGGGCCAGG	0.652																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1912-1914)agfs		zinc finger protein 366							106	120	115					5																	71739906		2203	4300	6503	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739906delG	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1912delC	5.37:g.71739906delG	ENSP00000313158:p.Gln638fs						p.Q638fs	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2402	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	638					Q5HYI9|Q7RTV4	Frame_Shift_Del	DEL	ENST00000318442.5	37	c.1912delC	CCDS4015.1																																																																																				0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	1019						7	1019	---	---	---	---	-	71739906	G	-	71739906	7	5	34	1	0	1	0	1	0	0	0	0	17923	1357	47	0	326	0	ZNF366	5	71739906	Frame_Shift_Del	DEL	G	TCGA-3A-A9IU-01A-11D-A397-08		71739906	109175354	41	4012											
ACOT12	134526	broad.mit.edu	37	chr5	80667586	80667586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctccatgcttgtgctgaAtgctctagtaacttttgctt	7	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:80667586A>G	ENST00000307624.3	-	3	269	c.241T>C	c.(241-243)Ttc>Ctc	p.F81L	ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	81	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTGTGCTGAATGCTCTAGTA	0.393																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(241-243)Ttc>Ctc		acyl-CoA thioesterase 12							220	180	193					5																	80667586		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80667586A>G	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.241T>C	5.37:g.80667586A>G	ENSP00000303246:p.Phe81Leu					ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L	p.F81L	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	3	269	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	81			Acyl coenzyme A hydrolase 1.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.241T>C	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532595	0.85812	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.21734	1.99;1.99	5.8	5.8	0.92144	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.90650	3.135	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60120	-0.7325	10	0.46703	T	0.11	-10.442	13.6838	0.62504	1.0:0.0:0.0:0.0	.	81;81	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	L	81	ENSP00000303246:F81L;ENSP00000421628:F81L	ENSP00000303246:F81L	F	-	1	0	ACOT12	80703342	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	5.817000	0.69229	2.227000	0.72691	0.460000	0.39030	TTC		0.393	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		64	176	0	0	0	1	0	64	176					G	80667586	A	G	80667586	3	3	34	1	0	0	0	0	1	0	0	0	150	101	4	4	1478	4	ACOT12	5	80667586	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	8927680	80667586	100247674	42	4013											
GPR98	84059	broad.mit.edu	37	chr5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaaggaacatatggccGtataaccatagcatgggaag	10	7	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:90046453G>A	ENST00000405460.2	+	53	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3687	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				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)			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)		ACATATGGCCGTATAACCATA	0.343																																						ENST00000405460.2																			0				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						c.(11059-11061)cGt>cAt		G protein-coupled receptor 98							188	186	186					5																	90046453		1869	4103	5972	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.chr5:90046453G>A	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.11060G>A	5.37:g.90046453G>A	ENSP00000384582:p.Arg3687His						p.R3687H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	53	11156	+		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)	3687					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11060G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092138|2.092138	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27720|.	1.65|.	5.52|5.52	1.66|1.66	0.24008|0.24008	.|.	0.152878|.	0.64402|.	N|.	0.000017|.	T|T	0.55097|0.55097	0.1899|0.1899	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.15;0.101|.	B;B|.	0.18561|.	0.022;0.01|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.37606|.	T|.	0.19|.	.|.	11.2443|11.2443	0.48987|0.48987	0.2377:0.0:0.7623:0.0|0.2377:0.0:0.7623:0.0	.|.	3687;3687|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|I	3687|1253	ENSP00000384582:R3687H|.	ENSP00000296619:R3687H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90082209|90082209	0.096000|0.096000	0.21769|0.21769	0.050000|0.050000	0.19076|0.19076	0.779000|0.779000	0.44077|0.44077	0.982000|0.982000	0.29539|0.29539	0.028000|0.028000	0.15324|0.15324	-0.123000|-0.123000	0.14984|0.14984	CGT|GTA		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	601	0	0	0	1	0	5	601					A	90046453	G	A	90046453	3	1	34	1	0	0	0	0	1	0	0	0	6751	1145	40	1	11270	1	GPR98	5	90046453	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	9378867	90046453	90868807	43	4014											
LNPEP	4012	broad.mit.edu	37	chr5	96342191	96342191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattattcaaaatatcaAtcggtatcattactggataa	5	5	3	1	rs541171362		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:96342191A>G	ENST00000231368.5	+	11	2699	c.2007A>G	c.(2005-2007)caA>caG	p.Q669Q	LNPEP_ENST00000395770.3_Silent_p.Q655Q	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	669					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAAAATATCAATCGGTATCAT	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.001		0.0	False		,,,				2504	0.0					ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2005-2007)caA>caG		leucyl/cystinyl aminopeptidase							52	54	54					5																	96342191		2203	4296	6499	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96342191A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2007A>G	5.37:g.96342191A>G						LNPEP_ENST00000395770.3_Silent_p.Q655Q	p.Q669Q	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	11	2699	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	669					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.2007A>G	CCDS4087.1																																																																																				0.308	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		101	271	0	0	0	1	0	101	271					G	96342191	A	G	96342191	2	3	34	1	0	0	0	0	0	0	0	1	8897	98	4	4		4	LNPEP	5	96342191	Silent	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	6295738	96342191	84573069	44	4015											
AFF4	27125	broad.mit.edu	37	chr5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-													tgttctgatccatgctggccTtttttccggctactgctccc					rs35626495		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(496-498)aafs		AF4/FMR2 family, member 4							164	160	161					5																	132270259		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270259delT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.498delA	5.37:g.132270259delT	ENSP00000265343:p.Lys166fs					AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR	p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	877	-		all_cancers(142;0.145)|Breast(839;0.198)	166			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.498delA	CCDS4164.1																																																																																				0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		9	753						9	753	---	---	---	---	-	132270259	T	-	132270259	7	5	34	1	0	1	0	1	0	0	0	0	359	1606	56	0	3069	0	AFF4	5	132270259	Frame_Shift_Del	DEL	T	TCGA-3A-A9IU-01A-11D-A397-08	35928068	132270259	48645001	45	4016											
PCDHA3	56145	broad.mit.edu	37	chr5	140181070	140181070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccgcgaggaactgtgCgggcggagcgcggagtgcag	19	9	0	1	rs529252017		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:140181070C>T	ENST00000522353.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	96	Cadherin 1. {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)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTGCGGGCGGAGCG	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.0	False		,,,				2504	0.001					ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(286-288)tgC>tgT									128	143	138					5																	140181070		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181070C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.288C>T	5.37:g.140181070C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA2_ENST00000520672.2_Intron	p.C96C	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	288	+								O75286	Silent	SNP	ENST00000522353.2	37	c.288C>T	CCDS54915.1																																																																																				0.552	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		8	936	0	0	0	1	0	8	936					T	140181070	C	T	140181070	2	4	34	1	0	0	0	0	0	0	0	1	11567	776	27	1		1	PCDHA3	5	140181070	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	7910811	140181070	40734190	46	4017											
ELOVL2	54898	broad.mit.edu	37	chr6	10984107	10984107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgcaggtggctcttgCatatctttcttcattggctt	8	11	4	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:10984107C>A	ENST00000354666.3	-	8	881	c.798G>T	c.(796-798)atG>atT	p.M266I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	266					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GTGGCTCTTGCATATCTTTCT	0.353																																						ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(796-798)atG>atT		ELOVL fatty acid elongase 2							179	161	167					6																	10984107		2202	4300	6502	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10984107C>A	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.798G>T	6.37:g.10984107C>A	ENSP00000346693:p.Met266Ile						p.M266I	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		8	881	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	266					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.798G>T	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622984	0.28889	.	.	ENSG00000197977	ENST00000354666	T	0.21191	2.02	5.2	1.35	0.21983	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	9	0.38643	T	0.18	1.9891	4.5775	0.12241	0.0:0.4456:0.1567:0.3977	.	266	Q9NXB9	ELOV2_HUMAN	I	266	ENSP00000346693:M266I	ENSP00000346693:M266I	M	-	3	0	ELOVL2	11092093	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-0.408000	0.07169	0.020000	0.15106	0.650000	0.86243	ATG		0.353	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			64	186	1	0	6.00099e-30	1	6.33624e-30	64	186					A	10984107	C	A	10984107	3	1	34	1	0	0	0	0	1	0	0	0	5092	710	25	3	96	3	ELOVL2	6	10984107	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		10984107	160130960	47	4018											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			10	468						10	468	---	---	---	---	-	29573438	CAG	-	29573436	7	5	34	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-3A-A9IU-01A-11D-A397-08	18589329	29573436	141541631	48	4019											
KIFC1	3833	broad.mit.edu	37	chr6	33374019	33374019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaatcgggctgtggcccGcacagcccagaatgaacggt	13	13	0	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:33374019G>A	ENST00000428849.2	+	8	2033	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	528	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTGTGGCCCGCACAGCCCAG	0.607																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1582-1584)cGc>cAc		kinesin family member C1							63	74	71					6																	33374019		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374019G>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1583G>A	6.37:g.33374019G>A	ENSP00000393963:p.Arg528His						p.R528H	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2033	+			528			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1583G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464579	0.43736	.	.	ENSG00000237649	ENST00000428849	T	0.74947	-0.89	5.29	2.52	0.30459	Kinesin, motor domain (4);	0.368199	0.29501	N	0.011962	T	0.31949	0.0813	N	0.11724	0.165	0.33777	D	0.62375	B;B	0.32425	0.241;0.371	B;B	0.28784	0.064;0.094	T	0.04565	-1.0942	10	0.35671	T	0.21	-26.1235	7.3144	0.26493	0.3411:0.0:0.6589:0.0	.	520;528	B4E063;Q9BW19	.;KIFC1_HUMAN	H	528	ENSP00000393963:R528H	ENSP00000393963:R528H	R	+	2	0	KIFC1	33481997	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	1.933000	0.40153	0.355000	0.24131	0.558000	0.71614	CGC		0.607	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		6	719	0	0	0	1	0	6	719					A	33374019	G	A	33374019	3	1	34	1	0	0	0	0	1	0	0	0	8342	1087	38	1	1613	1	KIFC1	6	33374019	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	3800583	33374019	137741048	49	4020											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	648						8	648	---	---	---	---	-	33411203	CAC	-	33411201	7	5	34	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-3A-A9IU-01A-11D-A397-08	37182	33411201	137703866	50	4021											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			19	474						19	474	---	---	---	---	A	80751897	-	A	80751896	7	5	34	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	47340695	80751896	90363171	51	4022											
TBP	6908	broad.mit.edu	37	chr6	170871016	170871016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcagca	10	14	0	0	rs542031948		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000230354.6_Silent_p.Q64Q|TBP_ENST00000540980.1_Silent_p.Q44Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14897	0.0		0.0	False		,,,				2504	0.0					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(190-192)caG>caA		TATA box binding protein							31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871016G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.192G>A	6.37:g.170871016G>A						TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	471	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	64			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.192G>A	CCDS5315.1																																																																																				0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	167	0	0	0	1	0	5	167					A	170871016	G	A	170871016	2	1	34	1	0	0	0	0	0	0	0	1	15696	962	34	2		2	TBP	6	170871016	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	90119120	170871016	244051	52	4023											
ABCA13	154664	broad.mit.edu	37	chr7	48411864	48411864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctactctggccatcGttctgaaaacaagtggcatc	10	11	2	1	rs570952854		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:48411864G>A	ENST00000435803.1	+	33	10927	c.10903G>A	c.(10903-10905)Gtt>Att	p.V3635I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3635					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3635I(1)|p.V3580I(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						TCTGGCCATCGTTCTGAAAAC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18714	0.0		0.0	False		,,,				2504	0.0					ENST00000435803.1																			2	Substitution - Missense(2)	p.V3635I(1)|p.V3580I(1)	large_intestine(2)	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						c.(10903-10905)Gtt>Att		ATP-binding cassette, sub-family A (ABC1), member 13							230	226	227					7																	48411864		2060	4204	6264	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411864G>A	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.10903G>A	7.37:g.48411864G>A	ENSP00000411096:p.Val3635Ile						p.V3635I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	10927	+			3635					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10903G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	1.351	-0.591282	0.03799	.	.	ENSG00000179869	ENST00000435803	D	0.87491	-2.26	5.77	-1.16	0.09678	.	0.381500	0.22125	N	0.064274	T	0.55114	0.1900	N	0.00801	-1.175	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.54543	-0.8278	10	0.02654	T	1	.	6.8687	0.24108	0.4762:0.128:0.3958:0.0	.	1337;3635	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3635	ENSP00000411096:V3635I	ENSP00000411096:V3635I	V	+	1	0	ABCA13	48382410	0.853000	0.29707	0.008000	0.14137	0.914000	0.54420	0.853000	0.27777	-0.342000	0.08363	-0.294000	0.09567	GTT		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		110	292	0	0	0	1	0	110	292					A	48411864	G	A	48411864	3	1	34	1	0	0	0	0	1	0	0	0	31	1145	40	1	10862	1	ABCA13	7	48411864	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		48411864	110726799	53	4024											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		7	609	0	0	0	1	0	7	609					C	66479413	T	C	66479413	2	2	34	1	0	0	0	0	0	0	0	1	16872	1567	55	4		4	TYW1	7	66479413	Silent	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	18067549	66479413	92659250	54	4025											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			8	655						8	655	---	---	---	---	-	142562309	G	-	142562309	7	5	34	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-3A-A9IU-01A-11D-A397-08	76082896	142562309	16576354	55	4026											
OR2A12	346525	broad.mit.edu	37	chr7	143792898	143792898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagtctggggagggccGcagaaaggccttctctacct	13	12	2	1	rs555296359	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:143792898G>A	ENST00000408949.2	+	1	758	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGGAGGGCCGCAGAAAGGCC	0.592													.|||	2	0.000399361	0.0	0.0	5008	,	,		17981	0.0		0.0	False		,,,				2504	0.002					ENST00000408949.2																			1	Substitution - Missense(1)	p.R233L(1)	kidney(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(697-699)cGc>cAc		olfactory receptor, family 2, subfamily A, member 12							149	144	145					7																	143792898		1964	4148	6112	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792898G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.698G>A	7.37:g.143792898G>A	ENSP00000386174:p.Arg233His						p.R233H	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	758	+	Melanoma(164;0.0783)		233					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.698G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730866	0.48939	.	.	ENSG00000221858	ENST00000408949	T	0.00333	8.07	4.33	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.86573	2.825	0.09310	N	1	B	0.32717	0.381	B	0.37888	0.26	T	0.17440	-1.0369	9	0.72032	D	0.01	-12.5177	10.0057	0.41955	0.1007:0.0:0.8993:0.0	.	233	Q8NGT7	O2A12_HUMAN	H	233	ENSP00000386174:R233H	ENSP00000386174:R233H	R	+	2	0	OR2A12	143423831	0.002000	0.14202	0.959000	0.39883	0.959000	0.62525	1.072000	0.30678	1.043000	0.40175	0.505000	0.49811	CGC		0.592	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			7	954	0	0	0	1	0	7	954					A	143792898	G	A	143792898	3	1	34	1	0	0	0	0	1	0	0	0	11017	1087	38	1	700	1	OR2A12	7	143792898	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	1230589	143792898	15345765	56	4027											
TNKS	8658	broad.mit.edu	37	chr8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttagcagagttggccGtaggaggagcctccaatgca	13	11	0	1	rs370349163		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		15309	0.001		0.0	False		,,,				2504	0.0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78	82	81		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile					TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		6	520	0	0	0	1	0	6	520					A	9609296	G	A	9609296	3	1	34	1	0	0	0	0	1	0	0	0	16371	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		9609296	136754726	57	4028											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	96	0	0	0	1	0	10	96					G	41790659	T	G	41790659	2	3	34	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	32181363	41790659	104573363	58	4029											
RALYL	138046	broad.mit.edu	37	chr8	85774611	85774611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagagtggcagtcacaaCgactcgcagggggaaaggag	15	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:85774611C>T	ENST00000521268.1	+	6	1599	c.494C>T	c.(493-495)aCg>aTg	p.T165M	RALYL_ENST00000521695.1_Missense_Mutation_p.T165M|RALYL_ENST00000521376.1_Missense_Mutation_p.T76M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000523850.1_Missense_Mutation_p.T92M	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	165							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGTCACAACGACTCGCAGG	0.483																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(493-495)aCg>aTg		RALY RNA binding protein-like							56	61	59					8																	85774611		1929	4136	6065	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774611C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.494C>T	8.37:g.85774611C>T	ENSP00000430367:p.Thr165Met					RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000521695.1_Missense_Mutation_p.T165M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000521376.1_Missense_Mutation_p.T76M	p.T165M	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			6	1599	+			165					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.494C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526572	0.64860	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.18657	2.83;2.83;2.83;2.85;2.83;2.42;2.2	5.1	5.1	0.69264	.	0.214143	0.49305	D	0.000143	T	0.35941	0.0949	M	0.61703	1.905	0.09310	N	1	P;D;P;P;D	0.60160	0.791;0.987;0.939;0.93;0.987	B;P;B;P;P	0.51016	0.336;0.588;0.337;0.656;0.588	T	0.19192	-1.0313	10	0.62326	D	0.03	-3.4988	18.8851	0.92375	0.0:1.0:0.0:0.0	.	154;165;92;178;165	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	M	165;165;165;154;178;92;76	ENSP00000430394:T165M;ENSP00000428667:T165M;ENSP00000430367:T165M;ENSP00000430065:T154M;ENSP00000430128:T178M;ENSP00000428807:T92M;ENSP00000428310:T76M	ENSP00000430128:T178M	T	+	2	0	RALYL	85937166	0.679000	0.27596	0.011000	0.14972	0.798000	0.45092	5.613000	0.67688	2.511000	0.84671	0.551000	0.68910	ACG		0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			36	88	0	0	0	1	0	36	88					T	85774611	C	T	85774611	3	4	34	1	0	0	0	0	1	0	0	0	13070	536	19	1	555	1	RALYL	8	85774611	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	43983952	85774611	60589411	59	4030											
TG	7038	broad.mit.edu	37	chr8	133923730	133923730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgttacatggaaatcaCggcttgaggacatcccagtg	11	8	1	2	rs372280039		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:133923730C>T	ENST00000220616.4	+	19	4151	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	TG_ENST00000377869.1_Missense_Mutation_p.R1371W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1371					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)				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)		ATGGAAATCACGGCTTGAGGA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20223	0.0		0.0	False		,,,				2504	0.0					ENST00000220616.4																			0				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						c.(4111-4113)Cgg>Tgg		thyroglobulin		C	TRP/ARG	0,4406		0,0,2203	239	213	222		4111	5.5	0	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense	TG	NM_003235.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1371/2769	133923730	1,13005	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923730C>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.4111C>T	8.37:g.133923730C>T	ENSP00000220616:p.Arg1371Trp					TG_ENST00000377869.1_Missense_Mutation_p.R1371W	p.R1371W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4151	+	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)	1371					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4111C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209064	0.79240	0.0	1.16E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.11;-0.12	5.51	5.51	0.81932	.	1.131830	0.06509	N	0.737751	T	0.58495	0.2126	L	0.40543	1.245	0.09310	N	1	D	0.69078	0.997	B	0.40534	0.332	T	0.57774	-0.7753	10	0.72032	D	0.01	.	14.9365	0.70960	0.0:1.0:0.0:0.0	.	1371	P01266	THYG_HUMAN	W	1371;177;1371	ENSP00000367100:R1371W;ENSP00000220616:R1371W	ENSP00000220616:R1371W	R	+	1	2	TG	133992912	0.036000	0.19791	0.006000	0.13384	0.514000	0.34195	3.406000	0.52637	2.582000	0.87167	0.557000	0.71058	CGG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		9	613	0	0	0	1	0	9	613					T	133923730	C	T	133923730	3	4	34	1	0	0	0	0	1	0	0	0	15865	527	19	1	4185	1	TG	8	133923730	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	48149119	133923730	12440292	60	4031											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-													agatgcttaccttttcacccTtttccccttggccaaaaggt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251	246	248					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	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.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	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)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	1073						7	1073	---	---	---	---	-	139809072	T	-	139809072	7	5	34	1	0	1	0	1	0	0	0	0	3690	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-3A-A9IU-01A-11D-A397-08	5885342	139809072	6554950	61	4032											
ZC3H3	23144	broad.mit.edu	37	chr8	144621235	144621235	+	Frame_Shift_Del	DEL	C	C	-													gctgcgggacaggaggctggCccccccgggccccgtgcaac							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:144621235delC	ENST00000262577.5	-	2	333	c.302delG	c.(301-303)ggcfs	p.G101fs	RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	101					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGAGGCTGGCCCCCCCGGGC	0.632																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(301-303)gcfs		zinc finger CCCH-type containing 3							45	52	49					8																	144621235		2203	4295	6498	SO:0001589	frameshift_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621235delC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.302delG	8.37:g.144621235delC	ENSP00000262577:p.Gly101fs						p.G101fs	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	333	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		101					Q14163|Q8N4E2|Q9BUS4	Frame_Shift_Del	DEL	ENST00000262577.5	37	c.302delG	CCDS6402.1																																																																																				0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		8	482						8	482	---	---	---	---	-	144621235	C	-	144621235	7	5	34	1	0	1	0	1	0	0	0	0	17622	739	26	0	2588	0	ZC3H3	8	144621235	Frame_Shift_Del	DEL	C	TCGA-3A-A9IU-01A-11D-A397-08	4812163	144621235	1742787	62	4033											
KDM4C	23081	broad.mit.edu	37	chr9	7049110	7049110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggcccatgtcatgtgCgccgttgcggtcccagaagt	15	11	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:7049110C>T	ENST00000381309.3	+	17	2899	c.2334C>T	c.(2332-2334)tgC>tgT	p.C778C	KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000442236.2_Silent_p.C523C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000535193.1_Silent_p.C800C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	778					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATGTCATGTGCGCCGTTGCGG	0.433																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2332-2334)tgC>tgT		lysine (K)-specific demethylase 4C							93	93	93					9																	7049110		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7049110C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2334C>T	9.37:g.7049110C>T						KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000442236.2_Silent_p.C523C	p.C778C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			17	2899	+			778					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.2334C>T	CCDS6471.1																																																																																				0.433	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		71	124	0	0	0	1	0	71	124					T	7049110	C	T	7049110	2	4	34	1	0	0	0	0	0	0	0	1	8160	776	27	1		1	KDM4C	9	7049110	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		7049110	134164321	63	4034											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	12	16	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972119	CDKN2A	D		c.(358-360)Gag>Tag		cyclin-dependent kinase inhibitor 2A							24	27	26					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*	p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	628	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		50	80	1	0	2.01872e-29	1	2.11965e-29	50	80					A	21971000	C	A	21971000	4	1	34	1	0	0	0	0	0	1	0	0	3170	864	30	3	120	3	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	14921890	21971000	119242431	64	4035											
RORB	6096	broad.mit.edu	37	chr9	77282784	77282784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccgaggaggagatcGctttgttctcatctgctgtt	12	9	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:77282784G>A	ENST00000396204.2	+	8	1111	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	RORB_ENST00000376896.3_Missense_Mutation_p.A360T			Q92753	RORB_HUMAN	RAR-related orphan receptor B	371	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGAGGAGATCGCTTTGTTCTC	0.388																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1078-1080)Gct>Act		RAR-related orphan receptor B							207	180	189					9																	77282784		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77282784G>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1111G>A	9.37:g.77282784G>A	ENSP00000379507:p.Ala371Thr					RORB_ENST00000396204.2_Missense_Mutation_p.A371T	p.A360T	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			8	1690	+			371			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.1078G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.715486	0.96830	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97575	-4.44;-4.44	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.092611	0.64402	D	0.000001	D	0.98689	0.9560	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.98965	1.0799	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	371;360	Q92753;Q58EY0	RORB_HUMAN;.	T	360;371	ENSP00000366093:A360T;ENSP00000379507:A371T	ENSP00000366093:A360T	A	+	1	0	RORB	76472604	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.775000	0.98995	2.941000	0.99782	0.655000	0.94253	GCT		0.388	RORB-201	KNOWN	basic	protein_coding	protein_coding				150	379	0	0	0	1	0	150	379					A	77282784	G	A	77282784	3	1	34	1	0	0	0	0	1	0	0	0	13579	1087	38	1	1108	1	RORB	9	77282784	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	55311784	77282784	63930647	65	4036											
ROR2	4920	broad.mit.edu	37	chr9	94487297	94487297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcccccggggcagggccGaacaggtgacctttgtagac	14	13	0	2	rs368196613		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:94487297G>A	ENST00000375708.3	-	9	1677	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F353F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCAGGGCCGAACAGGTGAC	0.607																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1477-1479)ttC>ttT		receptor tyrosine kinase-like orphan receptor 2		G		0,4406		0,0,2203	153	178	169		1479	-8.9	0.2	9		169	1,8599		0,1,4299	no	coding-synonymous	ROR2	NM_004560.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		493/944	94487297	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487297G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1479C>T	9.37:g.94487297G>A						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F353F	p.F493F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	1677	-			493			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1479C>T	CCDS6691.1																																																																																				0.607	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			7	1285	0	0	0	1	0	7	1285					A	94487297	G	A	94487297	2	1	34	1	0	0	0	0	0	0	0	1	13577	1049	37	1		1	ROR2	9	94487297	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	17204513	94487297	46726134	66	4037											
TNC	3371	broad.mit.edu	37	chr9	117848514	117848514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtccctggggcattggCgatcccggcagtcttcccct	12	15	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:117848514C>T	ENST00000350763.4	-	3	1907	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	TNC_ENST00000340094.3_Missense_Mutation_p.R499H|TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	499	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.R499H(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						GGGGCATTGGCGATCCCGGCA	0.597																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.R499H(1)	central_nervous_system(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						c.(1495-1497)cGc>cAc		tenascin C							116	109	112					9																	117848514		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848514C>T		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.1496G>A	9.37:g.117848514C>T	ENSP00000265131:p.Arg499His					TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000340094.3_Missense_Mutation_p.R499H|TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H	p.R499H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1907	-			499			EGF-like 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1496G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.572	0.880360	0.17467	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9	5.82	-2.57	0.06248	.	0.783888	0.11926	N	0.516193	T	0.03959	0.0111	L	0.59436	1.845	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.08055	0.003;0.001	T	0.37407	-0.9707	10	0.59425	D	0.04	.	4.1099	0.10053	0.5463:0.2293:0.0677:0.1566	.	499;499	E9PC84;P24821	.;TENA_HUMAN	H	499	ENSP00000344400:R499H;ENSP00000438152:R499H;ENSP00000344555:R499H;ENSP00000345861:R499H;ENSP00000265131:R499H;ENSP00000339553:R499H;ENSP00000411406:R499H;ENSP00000443478:R499H;ENSP00000442242:R499H	ENSP00000344400:R499H	R	-	2	0	TNC	116888335	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	-0.002000	0.12924	-0.330000	0.08514	0.462000	0.41574	CGC		0.597	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		6	560	0	0	0	1	0	6	560					T	117848514	C	T	117848514	3	4	34	1	0	0	0	0	1	0	0	0	16322	768	27	1	5213	1	TNC	9	117848514	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	23361217	117848514	23364917	67	4038											
CERCAM	51148	broad.mit.edu	37	chr9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacccttactcgggccGcactctgaccaagggcgagg	13	15	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(910-912)cGc>cAc		cerebral endothelial cell adhesion molecule							85	85	85					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His					CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H	p.R304H			Q5T4B2	GT253_HUMAN			10	4055	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.911G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		6	404	0	0	0	1	0	6	404					A	131193524	G	A	131193524	3	1	34	1	0	0	0	0	1	0	0	0	3275	1087	38	1	1179	1	CERCAM	9	131193524	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	13345010	131193524	10019907	68	4039											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874291	24874291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaggctgtggggaacaCgggaaactcgctctcgctgt	14	10	2	0	rs1143061		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:24874291C>T	ENST00000396432.2	-	26	5413	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1642	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGGGAACACGGGAAACTCG	0.532																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4927-4929)Gtg>Atg		Rho GTPase activating protein 21							71	75	73					10																	24874291		2203	4299	6502	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874291C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4927G>A	10.37:g.24874291C>T	ENSP00000379709:p.Val1643Met						p.V1643M	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5413	-			1642			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4927G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173447	0.06421	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.13901	2.55	5.19	-0.0832	0.13695	.	0.329273	0.31797	N	0.007043	T	0.07999	0.0200	L	0.55834	1.745	0.22754	N	0.998774	P	0.39352	0.669	B	0.27076	0.076	T	0.25117	-1.0141	10	0.46703	T	0.11	.	1.9574	0.03379	0.1301:0.4116:0.2524:0.206	rs1143061;rs3206462	1642	Q5T5U3	RHG21_HUMAN	M	1643;1092	ENSP00000379709:V1643M	ENSP00000379709:V1643M	V	-	1	0	ARHGAP21	24914297	0.810000	0.29049	0.000000	0.03702	0.007000	0.05969	1.633000	0.37113	-0.062000	0.13088	-0.974000	0.02594	GTG		0.532	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	352	0	0	0	1	0	9	352					T	24874291	C	T	24874291	3	4	34	1	0	0	0	0	1	0	0	0	871	536	19	1	953	1	ARHGAP21	10	24874291	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		24874291	110660456	69	4040											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	250						7	250	---	---	---	---	-	46969403	CAG	-	46969401	7	5	34	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-3A-A9IU-01A-11D-A397-08	22095110	46969401	88565346	70	4041											
CBARA1	10367	broad.mit.edu	37	chr10	74310995	74310995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcttctggtgtcataaaCacttctgcttcaccaggctc	6	12	5	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:74310995C>T	ENST00000361114.5	-	4	531	c.435G>A	c.(433-435)gtG>gtA	p.V145V	MICU1_ENST00000398761.4_Silent_p.V145V|MICU1_ENST00000401998.3_Silent_p.V145V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	145					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GTGTCATAAACACTTCTGCTT	0.388																																						ENST00000398761.4																			0											c.(433-435)gtG>gtA		mitochondrial calcium uptake 1							111	104	106					10																	74310995		1885	4115	6000	SO:0001819	synonymous_variant	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74310995C>T	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.435G>A	10.37:g.74310995C>T						MICU1_ENST00000401998.3_Silent_p.V145V|MICU1_ENST00000361114.5_Silent_p.V145V	p.V145V			Q9BPX6	MICU1_HUMAN			4	567	-			145					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	c.435G>A	CCDS55715.1																																																																																				0.388	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		56	69	0	0	0	1	0	56	69					T	74310995	C	T	74310995	2	4	34	1	0	0	0	0	0	0	0	1	2703	465	17	2		2	CBARA1	10	74310995	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	27341594	74310995	61223752	71	4042											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642976	1642976	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagccccccttggaAcccccacaggagccacagcc	9	20	0	0	rs569029116	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:1642976A>G	ENST00000399682.1	-	1	392	c.348T>C	c.(346-348)ggT>ggC	p.G116G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662													a|||	5	0.000998403	0.0023	0.0	5008	,	,		10207	0.002		0.0	False		,,,				2504	0.0					ENST00000399682.1																			3	Substitution - coding silent(3)	p.G116G(3)	endometrium(2)|prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(346-348)ggT>ggC		keratin associated protein 5-4							10	20	17					11																	1642976		677	1565	2242	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642976A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.348T>C	11.37:g.1642976A>G							p.G116G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	392	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	116			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.348T>C																																																																																					0.662	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		15	369	0	0	0	1	0	15	369					G	1642976	A	G	1642976	2	3	34	1	0	0	0	0	0	0	0	1	8594	30	2	4		4	KRTAP5-4	11	1642976	Silent	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08		1642976	133363540	72	4043											
MRVI1	10335	broad.mit.edu	37	chr11	10602017	10602017	+	Frame_Shift_Del	DEL	T	T	-													cccacctgcttcttgggcccTtttcctcttcctcagtttct							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:10602017delT	ENST00000436272.1	-	19	2477	c.2399delA	c.(2398-2400)aagfs	p.K800fs	MRVI1_ENST00000421747.1_Frame_Shift_Del_p.K818fs|MRVI1_ENST00000547195.1_Frame_Shift_Del_p.K736fs|MRVI1_ENST00000534266.2_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000558540.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000531107.1_Frame_Shift_Del_p.K819fs|MRVI1_ENST00000424001.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000527509.2_Frame_Shift_Del_p.K736fs|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000545852.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000423302.2_Frame_Shift_Del_p.K827fs|MRVI1_ENST00000541483.1_Frame_Shift_Del_p.K621fs|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Frame_Shift_Del_p.K736fs			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	800	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTTGGGCCCTTTTCCTCTTC	0.463																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(2206-2208)agfs		murine retrovirus integration site 1 homolog							280	282	281					11																	10602017		1886	4095	5981	SO:0001589	frameshift_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10602017delT	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2399delA	11.37:g.10602017delT	ENSP00000412229:p.Lys800fs					MRVI1_ENST00000527509.2_Frame_Shift_Del_p.K736fs|MRVI1_ENST00000424001.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000545852.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000421747.1_Frame_Shift_Del_p.K818fs|MRVI1_ENST00000558540.1_Frame_Shift_Del_p.K512fs|MRVI1_ENST00000436272.1_Frame_Shift_Del_p.K800fs|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Frame_Shift_Del_p.K736fs|MRVI1_ENST00000531107.1_Frame_Shift_Del_p.K819fs|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Frame_Shift_Del_p.K827fs|MRVI1_ENST00000541483.1_Frame_Shift_Del_p.K621fs|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000534266.2_Frame_Shift_Del_p.K512fs	p.K736fs	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	19	2707	-			800					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Frame_Shift_Del	DEL	ENST00000436272.1	37	c.2207delA																																																																																					0.463	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		7	1184						7	1184	---	---	---	---	-	10602017	T	-	10602017	7	5	34	1	0	1	0	1	0	0	0	0	9894	1609	56	0	266	0	MRVI1	11	10602017	Frame_Shift_Del	DEL	T	TCGA-3A-A9IU-01A-11D-A397-08	8959041	10602017	124404499	73	4044											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	355						7	355	---	---	---	---	-	30034031	TGG	-	30034029	7	5	34	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-3A-A9IU-01A-11D-A397-08	19432012	30034029	104972487	74	4045											
PTPRJ	5795	broad.mit.edu	37	chr11	48186036	48186036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggattgtgtatgaccttcGaatgcataggcctttaatgg	12	6	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:48186036G>T	ENST00000418331.2	+	24	4176	c.3824G>T	c.(3823-3825)cGa>cTa	p.R1275L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1275	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGACCTTCGAATGCATAGG	0.428																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3823-3825)cGa>cTa		protein tyrosine phosphatase, receptor type, J							194	168	177					11																	48186036		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48186036G>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3824G>T	11.37:g.48186036G>T	ENSP00000400010:p.Arg1275Leu						p.R1275L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			24	4176	+			1275			Tyrosine-protein phosphatase.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3824G>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976142	0.92982	.	.	ENSG00000149177	ENST00000418331	D	0.91521	-2.86	4.53	4.53	0.55603	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	D	0.97114	0.9057	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98523	1.0624	9	0.87932	D	0	.	15.133	0.72539	0.0:0.0:1.0:0.0	.	1275	Q12913	PTPRJ_HUMAN	L	1275	ENSP00000400010:R1275L	ENSP00000400010:R1275L	R	+	2	0	PTPRJ	48142612	1.000000	0.71417	0.885000	0.34714	0.992000	0.81027	9.735000	0.98825	2.237000	0.73441	0.650000	0.86243	CGA		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			4	259	1	0	1	1	1	4	259					T	48186036	G	T	48186036	3	4	34	1	0	0	0	0	1	0	0	0	12854	1058	37	3	3927	3	PTPRJ	11	48186036	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	18152007	48186036	86820480	75	4046											
ARAP1	116985	broad.mit.edu	37	chr11	72408662	72408662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcgctccaccagcaCcagcacctggttctcactgt	6	19	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:72408662C>T	ENST00000393609.3	-	20	2972	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000359373.5_Missense_Mutation_p.V924M|ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	924					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCACCAGCACCAGCACCTGG	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2770-2772)Gtg>Atg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							108	94	99					11																	72408662		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408662C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2770G>A	11.37:g.72408662C>T	ENSP00000377233:p.Val924Met					ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000393609.3_Missense_Mutation_p.V924M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M	p.V924M			Q96P48	ARAP1_HUMAN			20	3621	-			924					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2770G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694061	0.88735	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.93	4.93	0.64822	Pleckstrin homology domain (1);	0.133016	0.49916	D	0.000132	T	0.48926	0.1527	L	0.54323	1.7	0.41335	D	0.987265	P;D;P;P;P	0.69078	0.843;0.997;0.881;0.843;0.903	P;P;P;P;P	0.61533	0.779;0.845;0.746;0.677;0.89	T	0.52019	-0.8631	10	0.87932	D	0	.	17.0897	0.86618	0.0:1.0:0.0:0.0	.	679;618;924;924;684	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	924;924;684;679;924;679;618;212;212	ENSP00000352332:V924M;ENSP00000390461:V924M;ENSP00000377230:V684M;ENSP00000335506:V679M;ENSP00000377233:V924M;ENSP00000392264:V679M;ENSP00000403127:V618M;ENSP00000411452:V212M;ENSP00000399118:V212M	ENSP00000335506:V679M	V	-	1	0	ARAP1	72086310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.823000	0.48081	2.435000	0.82474	0.563000	0.77884	GTG		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		81	255	0	0	0	1	0	81	255					T	72408662	C	T	72408662	3	4	34	1	0	0	0	0	1	0	0	0	838	507	18	2	1646	2	ARAP1	11	72408662	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	24222626	72408662	62597854	76	4047											
TYR	7299	broad.mit.edu	37	chr11	88924443	88924443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccgagggacctttacGgcgtaatcctggaaaccatg	11	12	0	0	rs148815276		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:88924443G>A	ENST00000263321.5	+	2	1395	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	298					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGACCTTTACGGCGTAATCCT	0.468																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(892-894)cGg>cAg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	134	125	128		893	0.5	0	11	dbSNP_134	128	0,8598		0,0,4299	no	missense	TYR	NM_000372.4	43	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	298/530	88924443	1,12999	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924443G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.893G>A	11.37:g.88924443G>A	ENSP00000263321:p.Arg298Gln					TYR_ENST00000526139.1_3'UTR	p.R298Q	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1395	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	298					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.893G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706604	0.15239	2.27E-4	0.0	ENSG00000077498	ENST00000263321	D	0.97114	-4.25	5.59	0.524	0.17066	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.354131	0.29205	N	0.012826	D	0.91576	0.7339	L	0.39020	1.185	0.09310	N	1	P	0.40230	0.708	B	0.33750	0.169	D	0.84793	0.0780	9	.	.	.	.	7.2211	0.25988	0.3203:0.0:0.2284:0.4513	.	298	P14679	TYRO_HUMAN	Q	298	ENSP00000263321:R298Q	.	R	+	2	0	TYR	88564091	0.004000	0.15560	0.033000	0.17914	0.384000	0.30261	1.222000	0.32515	-0.154000	0.11118	-2.213000	0.00299	CGG		0.468	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		149	352	0	0	0	1	0	149	352					A	88924443	G	A	88924443	3	1	34	1	0	0	0	0	1	0	0	0	16867	1116	39	1	899	1	TYR	11	88924443	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	16515781	88924443	46082073	77	4048											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		20	249	0	0	0	1	0	20	249					C	3649787	T	C	3649787	3	2	34	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08		3649787	130202108	78	4049											
PRH2	5555	broad.mit.edu	37	chr12	11083320	11083320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggaccacctttgggaggaCagcaatctcaaccctctgct	10	13	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:11083320C>G	ENST00000396400.3	+	3	198	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	54						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TTTGGGAGGACAGCAATCTCA	0.552																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(160-162)Cag>Gag		proline-rich protein HaeIII subfamily 2							117	132	127					12																	11083320		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083320C>G		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.160C>G	12.37:g.11083320C>G	ENSP00000379682:p.Gln54Glu					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E	p.Q54E	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	198	+			54					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.160C>G	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	0.588	-0.834193	0.02713	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.16457	2.34;2.34	1.11	0.126	0.14722	.	5.544330	0.01935	N	0.041536	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B	0.24426	0.103	B	0.17722	0.019	T	0.23476	-1.0187	10	0.44086	T	0.13	.	3.5402	0.07808	0.0:0.713:0.0:0.287	.	54	P02810	PRPC_HUMAN	E	54	ENSP00000371271:Q54E;ENSP00000379682:Q54E	ENSP00000371271:Q54E	Q	+	1	0	PRH2	10974587	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.025000	0.03600	0.041000	0.15688	0.194000	0.17425	CAG		0.552	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		8	550	0	0	0	1	0	8	550					G	11083320	C	G	11083320	3	3	34	1	0	0	0	0	1	0	0	0	12530	479	17	5	170	5	PRH2	12	11083320	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	7433533	11083320	122768575	79	4050											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		72	223	0	0	0	1	0	72	223					T	25398284	C	T	25398284	3	4	34	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	14314964	25398284	108453611	80	4051											
NELL2	4753	broad.mit.edu	37	chr12	45105106	45105106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacagctgtgagacaaGgttatctgatgagactctgg	12	7	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:45105106G>T	ENST00000429094.2	-	11	1662	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	NELL2_ENST00000437801.2_Silent_p.T436T|NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000549027.1_Silent_p.T385T|NELL2_ENST00000452445.2_Silent_p.T386T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	386						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTGAGACAAGGTTATCTGAT	0.398																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1156-1158)acC>acA		NEL-like 2 (chicken)							126	114	118					12																	45105106		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45105106G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1158C>A	12.37:g.45105106G>T						NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000452445.2_Silent_p.T386T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000437801.2_Silent_p.T436T|NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000549027.1_Silent_p.T385T	p.T386T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	11	1662	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	386			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1158C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.849108	0.17034	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	-1.97	0.07503	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	-8.8524	1.4208	0.02311	0.3427:0.0865:0.3107:0.2601	.	.	.	.	H	130	.	.	P	-	2	0	NELL2	43391373	0.938000	0.31826	0.982000	0.44146	0.983000	0.72400	-0.010000	0.12743	-0.109000	0.12044	-0.126000	0.14955	CCT		0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		65	224	1	0	7.75977e-34	1	8.23931e-34	65	224					T	45105106	G	T	45105106	2	4	34	1	0	0	0	0	0	0	0	1	10376	987	35	3		3	NELL2	12	45105106	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	19706822	45105106	88746789	81	4052											
NACA	4666	broad.mit.edu	37	chr12	57111746	57111746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggcccctttgggggAtggggtagctagacctcctt	17	9	0	1	rs2958150		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:57111746A>G	ENST00000454682.1	-	3	3849	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1190	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTTTGGGGGATGGGGTAGCT	0.632			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3568-3570)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							70	79	76					12																	57111746		1211	2850	4061	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111746A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3568T>C	12.37:g.57111746A>G	ENSP00000403817:p.Ser1190Pro					NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.S1190P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3849	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3568T>C		.	.	.	.	.	.	.	.	.	.	N	4.185	0.032930	0.08101	.	.	ENSG00000196531	ENST00000454682	T	0.48522	0.81	3.45	-6.89	0.01660	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13656	-1.0501	7	.	.	.	.	3.2779	0.06904	0.2678:0.208:0.4211:0.1031	.	1190	E9PAV3	.	P	1190	ENSP00000403817:S1190P	.	S	-	1	0	NACA	55398013	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.625000	0.05534	-2.321000	0.00641	-2.753000	0.00124	TCC		0.632	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		14	553	0	0	0	1	0	14	553					G	57111746	A	G	57111746	3	3	34	1	0	0	0	0	1	0	0	0	10174	333	12	4	2696	4	NACA	12	57111746	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	12006640	57111746	76740149	82	4053											
NACA	4666	broad.mit.edu	37	chr12	57112272	57112272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctttgggggagggaggagtCacagctgggggtgtgggggc	23	6	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:57112272C>T	ENST00000454682.1	-	3	3323	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGGAGGAGTCACAGCTGGGG	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3040-3042)gtG>gtA		nascent polypeptide-associated complex alpha subunit							31	37	35					12																	57112272		1543	3531	5074	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112272C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3042G>A	12.37:g.57112272C>T						NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.V1014V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3323	-			0						Silent	SNP	ENST00000454682.1	37	c.3042G>A																																																																																					0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	282	0	0	0	1	0	5	282					T	57112272	C	T	57112272	2	4	34	1	0	0	0	0	0	0	0	1	10174	813	29	2		2	NACA	12	57112272	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	526	57112272	76739623	83	4054											
IL26	55801	broad.mit.edu	37	chr12	68619408	68619408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctttgatatagagagcGtcaacagcttgggacaatgt	12	7	1	2	rs572120709		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:68619408G>A	ENST00000229134.4	-	1	193	c.129C>T	c.(127-129)gaC>gaT	p.D43D	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	43					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TATAGAGAGCGTCAACAGCTT	0.438																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(127-129)gaC>gaT		interleukin 26							281	247	259					12																	68619408		2203	4300	6503	SO:0001819	synonymous_variant	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619408G>A	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.129C>T	12.37:g.68619408G>A						IFNG-AS1_ENST00000536914.1_RNA	p.D43D	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	193	-			43						Silent	SNP	ENST00000229134.4	37	c.129C>T	CCDS8981.1																																																																																				0.438	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		6	741	0	0	0	1	0	6	741					A	68619408	G	A	68619408	2	1	34	1	0	0	0	0	0	0	0	1	7709	1136	40	1		1	IL26	12	68619408	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	11507136	68619408	65232487	84	4055											
C12orf51	283450	broad.mit.edu	37	chr12	112605648	112605650	+	In_Frame_Del	DEL	CAG	CAG	-													ttgacagctgagctggggcaCagcagcagcagcgacagcga							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:112605648_112605650delCAG	ENST00000430131.2	-	70	12159_12161	c.11014_11016delCTG	c.(11014-11016)ctgdel	p.L3672del	HECTD4_ENST00000377560.5_In_Frame_Del_p.L3922del|HECTD4_ENST00000550722.1_In_Frame_Del_p.L3948del			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3672	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGCTGGGGCACAGCAGCAGCAGC	0.64																																						ENST00000550722.1																			0											c.(11842-11844)del		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001651	inframe_deletion	283450							g.chr12:112605648_112605650delCAG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11014_11016delCTG	12.37:g.112605657_112605659delCAG	ENSP00000404379:p.Leu3672del					HECTD4_ENST00000377560.5_In_Frame_Del_p.L3922del|HECTD4_ENST00000430131.2_In_Frame_Del_p.L3672del	p.L3948del	NM_001109662.3	NP_001103132.3					71	12237_12239	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.11842_11844delCTG																																																																																					0.64	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	396						10	396	---	---	---	---	-	112605650	CAG	-	112605648	7	5	34	1	0	1	0	1	0	0	0	0	1701	465	17	0	998	0	C12orf51	12	112605648	In_Frame_Del	DEL	CAG	TCGA-3A-A9IU-01A-11D-A397-08	43986240	112605648	21246247	85	4056											
NBEA	26960	broad.mit.edu	37	chr13	35733662	35733663	+	Frame_Shift_Ins	INS	-	-	A													atggaagtgttggtatcattINSaaaaaaaatgaagaaaagga							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr13:35733662_35733663insA	ENST00000400445.3	+	22	3888_3889	c.3354_3355insA	c.(3355-3357)aaafs	p.K1119fs	NBEA_ENST00000310336.4_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000540320.1_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.K1119fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1119					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3352-3357)ataaaafs		neurobeachin																																				SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733662_35733663insA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3362dupA	13.37:g.35733670_35733670dupA	ENSP00000383295:p.Lys1119fs					NBEA_ENST00000400445.3_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.IK1118fs	p.IK1118fs			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3888_3889	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1118					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	ENST00000400445.3	37	c.3354_3355insA	CCDS45026.1																																																																																				0.356	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	119						7	119	---	---	---	---	A	35733663	-	A	35733662	7	5	34	1	0	1	1	0	0	0	0	0	10228	1742	61	0	3440	0	NBEA	13	35733662	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08		35733662	79436216	86	4057											
NALCN	259232	broad.mit.edu	37	chr13	101755524	101755524	+	Splice_Site	DEL	A	A	-													aaggataattctcacataccAaaaaaatttccttgaagccg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr13:101755524delA	ENST00000251127.6	-	26	3137	c.3056delT	c.(3055-3057)ttg>tg	p.L1019fs		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1019					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACATACCAAAAAAATTTC	0.428																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.e26+1		sodium leak channel, non-selective							105	113	111					13																	101755524		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755524delA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3057+1T>-	13.37:g.101755524delA							p.L1019_splice	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			26	3137	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1019					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	DEL	ENST00000251127.6	37	c.3057_splice	CCDS9498.1																																																																																				0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Frame_Shift_Del	7	560						7	560	---	---	---	---	-	101755524	A	-	101755524	8	5	34	1	0	1	0	1	0	0	1	0	10189	144	5	0	2236	0	NALCN	13	101755524	Splice_Site	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08	66021862	101755524	13414354	87	4058											
FANCM	57697	broad.mit.edu	37	chr14	45665470	45665470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacttctcttagacttccGcaggaaggaaaaggaacctg	9	10	1	1	rs377630399		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:45665470G>A	ENST00000267430.5	+	21	5521	c.5436G>A	c.(5434-5436)ccG>ccA	p.P1812P	FANCM_ENST00000542564.2_Silent_p.P1786P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1812	Interaction with FAAP24 and EME1.		P -> A (in dbSNP:rs3736772). {ECO:0000269|PubMed:10997877}.		DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGACTTCCGCAGGAAGGAA	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5434-5436)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M		G		1,4405	2.1+/-5.4	0,1,2202	126	123	124		5436	-1.8	0	14		124	0,8600		0,0,4300	no	coding-synonymous	FANCM	NM_020937.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1812/2049	45665470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665470G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5436G>A	14.37:g.45665470G>A						FANCM_ENST00000542564.2_Silent_p.P1786P	p.P1812P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			21	5521	+			1812		P -> A (in dbSNP:rs3736772).	Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.5436G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462289	0.12342	2.27E-4	0.0	ENSG00000187790	ENST00000554809	.	.	.	5.27	-1.83	0.07833	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	.	1.3233	0.02121	0.293:0.1242:0.3414:0.2414	.	.	.	.	T	780	.	.	A	+	1	0	FANCM	44735220	0.000000	0.05858	0.008000	0.14137	0.362000	0.29581	-0.041000	0.12084	-0.216000	0.10048	-0.414000	0.06135	GCA		0.438	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	588	0	0	0	1	0	6	588					A	45665470	G	A	45665470	2	1	34	1	0	0	0	0	0	0	0	1	5696	1074	38	1		1	FANCM	14	45665470	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		45665470	61684070	88	4059											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207900	65207900	+	Frame_Shift_Del	DEL	C	C	-													cagggccttctggggatggaCcccccaggtgacatggtgga							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:65207900delC	ENST00000394691.1	+	16	1812	c.1665delC	c.(1663-1665)gacfs	p.D555fs	PLEKHG3_ENST00000471182.2_Frame_Shift_Del_p.D88fs|PLEKHG3_ENST00000484731.2_Frame_Shift_Del_p.D60fs|PLEKHG3_ENST00000247226.7_Frame_Shift_Del_p.D499fs			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	555							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGGGGATGGACCCCCCAGGTG	0.612																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1495-1497)gafs		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							106	110	109					14																	65207900		2203	4300	6503	SO:0001589	frameshift_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65207900delC	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1665delC	14.37:g.65207900delC	ENSP00000378183:p.Asp555fs					PLEKHG3_ENST00000484731.2_Frame_Shift_Del_p.D60fs|PLEKHG3_ENST00000471182.2_Frame_Shift_Del_p.D88fs|PLEKHG3_ENST00000394691.1_Frame_Shift_Del_p.D555fs	p.D499fs	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	1805	+			555					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Frame_Shift_Del	DEL	ENST00000394691.1	37	c.1497delC																																																																																					0.612	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	805						7	805	---	---	---	---	-	65207900	C	-	65207900	7	5	34	1	0	1	0	1	0	0	0	0	12112	506	18	0	1547	0	PLEKHG3	14	65207900	Frame_Shift_Del	DEL	C	TCGA-3A-A9IU-01A-11D-A397-08	19542430	65207900	42141640	89	4060											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	10	294						10	294	---	---	---	---	A	75601712	-	A	75601711	8	5	34	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	10393811	75601711	31747829	90	4061											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		13	316						13	316	---	---	---	---	T	96783572	-	T	96783571	7	5	34	1	0	1	1	0	0	0	0	0	1095	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	21181860	96783571	10565969	91	4062											
EML1	2009	broad.mit.edu	37	chr14	100405582	100405582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacatcaatgccgtctgtcGggcccatgagaagaaactcc	10	13	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:100405582G>A	ENST00000262233.6	+	21	2379	c.2240G>A	c.(2239-2241)cGg>cAg	p.R747Q	EML1_ENST00000327921.9_Missense_Mutation_p.R735Q|EML1_ENST00000334192.4_Missense_Mutation_p.R766Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	747	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R766Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCCGTCTGTCGGGCCCATGAG	0.552																																						ENST00000262233.6																			1	Substitution - Missense(1)	p.R766Q(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2239-2241)cGg>cAg		echinoderm microtubule associated protein like 1							125	112	116					14																	100405582		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405582G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2240G>A	14.37:g.100405582G>A	ENSP00000262233:p.Arg747Gln					EML1_ENST00000334192.4_Missense_Mutation_p.R766Q|EML1_ENST00000327921.9_Missense_Mutation_p.R735Q	p.R747Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2379	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	747					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2240G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117755	0.77323	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.17854	2.25;2.25;2.25	4.56	4.56	0.56223	.	0.051684	0.64402	D	0.000001	T	0.47710	0.1460	M	0.90082	3.085	0.80722	D	1	P;D;D	0.71674	0.926;0.998;0.959	B;P;B	0.61397	0.388;0.888;0.293	T	0.62205	-0.6903	10	0.87932	D	0	-22.3911	17.6609	0.88193	0.0:0.0:1.0:0.0	.	735;747;766	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	Q	735;747;766;766	ENSP00000327384:R735Q;ENSP00000262233:R747Q;ENSP00000334314:R766Q	ENSP00000262233:R747Q	R	+	2	0	EML1	99475335	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	7.627000	0.83176	2.240000	0.73641	0.561000	0.74099	CGG		0.552	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		5	324	0	0	0	1	0	5	324					A	100405582	G	A	100405582	3	1	34	1	0	0	0	0	1	0	0	0	5114	1116	39	1	2383	1	EML1	14	100405582	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	3622011	100405582	6943958	92	4063											
ATP10A	57194	broad.mit.edu	37	chr15	25953374	25953374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaggtgcgcaggccTtccgccgcatacacgttgag	12	13	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:25953374T>G	ENST00000356865.6	-	11	2529	c.2418A>C	c.(2416-2418)gaA>gaC	p.E806D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	806					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCGCAGGCCTTCCGCCGCAT	0.577																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2416-2418)gaA>gaC		ATPase, class V, type 10A							127	108	114					15																	25953374		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953374T>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2418A>C	15.37:g.25953374T>G	ENSP00000349325:p.Glu806Asp						p.E806D	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2529	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	806					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2418A>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	7.022	0.558919	0.13436	.	.	ENSG00000206190	ENST00000356865	D	0.82433	-1.61	4.84	-4.91	0.03085	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.093232	0.64402	N	0.000001	T	0.53578	0.1805	N	0.12920	0.275	0.46317	D	0.998986	B	0.06786	0.001	B	0.15484	0.013	T	0.51764	-0.8664	10	0.02654	T	1	-23.9456	2.2901	0.04136	0.283:0.4025:0.0988:0.2157	.	806	O60312	AT10A_HUMAN	D	806	ENSP00000349325:E806D	ENSP00000349325:E806D	E	-	3	2	ATP10A	23504467	1.000000	0.71417	0.792000	0.32020	0.854000	0.48673	1.151000	0.31651	-0.677000	0.05231	0.533000	0.62120	GAA		0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		100	294	0	0	0	1	0	100	294					G	25953374	T	G	25953374	3	3	34	1	0	0	0	0	1	0	0	0	1117	1606	56	4	2125	4	ATP10A	15	25953374	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08		25953374	76578018	93	4064											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	717						9	717	---	---	---	---	-	34393993	AGC	-	34393991	7	5	34	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-3A-A9IU-01A-11D-A397-08	8440617	34393991	68137401	94	4065											
C15orf40	123207	broad.mit.edu	37	chr15	83674354	83674354	+	Frame_Shift_Del	DEL	T	T	-													cctcatttcttgcttttatgTttttttggcttcctttttta							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:83674354delT	ENST00000513601.2	-	4	464	c.457delA	c.(457-459)acafs	p.T153fs	C15orf40_ENST00000304177.5_Frame_Shift_Del_p.T126fs|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	153										large_intestine(3)|lung(2)|skin(1)	6						TGCTTTTATGTTTTTTTGGCT	0.488																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(376-378)cafs		chromosome 15 open reading frame 40							99	107	104					15																	83674354		2203	4300	6503	SO:0001589	frameshift_variant	123207							g.chr15:83674354delT	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.457delA	15.37:g.83674354delT	ENSP00000424666:p.Thr153fs					C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|C15orf40_ENST00000513601.2_Frame_Shift_Del_p.T153fs|RP11-382A20.5_ENST00000566841.1_RNA	p.T126fs	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN			4	490	-			126					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Frame_Shift_Del	DEL	ENST00000513601.2	37	c.376delA	CCDS32312.2																																																																																				0.488	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		7	873						7	873	---	---	---	---	-	83674354	T	-	83674354	7	5	34	1	0	1	0	1	0	0	0	0	1799	1725	60	0	342	0	C15orf40	15	83674354	Frame_Shift_Del	DEL	T	TCGA-3A-A9IU-01A-11D-A397-08	49280363	83674354	18857038	95	4066											
VPS33B	26276	broad.mit.edu	37	chr15	91557033	91557033	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaggatccaaactcaCcttttgagggctgaagatca	8	12	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:91557033C>T	ENST00000333371.3	-	5	711		c.e5+1		VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000557358.1_Intron	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCAAACTCACCTTTTGAGGG	0.522																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.e5+1		vacuolar protein sorting 33 homolog B (yeast)							158	138	145					15																	91557033		2198	4298	6496	SO:0001630	splice_region_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557033C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.357+1G>A	15.37:g.91557033C>T						VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000557358.1_Intron		NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			5	711	-	Lung NSC(78;0.0987)|all_lung(78;0.175)							B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Splice_Site	SNP	ENST00000333371.3	37		CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600940	0.87055	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2545	0.93940	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33B	89358037	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.902000	0.69869	2.647000	0.89833	0.650000	0.86243	.		0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	Intron	110	328	0	0	0	1	0	110	328					T	91557033	C	T	91557033	5	4	34	1	0	0	0	0	0	0	1	0	17256	521	18	2	1571	2	VPS33B	15	91557033	Splice_Site	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	7882679	91557033	10974359	96	4067											
SSTR5	6755	broad.mit.edu	37	chr16	1129924	1129924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgccacccgcgcaccgCgccgcagccaacgggcttat	11	20	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:1129924C>T	ENST00000293897.4	+	1	1144	c.1056C>T	c.(1054-1056)cgC>cgT	p.R352R	SSTR5_ENST00000397547.2_Silent_p.R352R|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	352				PPAHR -> RPRT (in Ref. 1; AAA20828). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCGCGCACCGCGCCGCAGCCA	0.711																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1054-1056)cgC>cgT		somatostatin receptor 5	Octreotide(DB00104)						14	14	14					16																	1129924		2162	4262	6424	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129924C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1056C>T	16.37:g.1129924C>T						SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R352R	p.R352R	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	1144	+		Hepatocellular(780;0.00369)	352	PPAHR -> RPRT (in Ref. 1; AAA20828).				P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.1056C>T	CCDS10429.1																																																																																				0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	38	0	0	0	1	0	9	38					T	1129924	C	T	1129924	2	4	34	1	0	0	0	0	0	0	0	1	15253	755	27	1		1	SSTR5	16	1129924	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		1129924	89224829	97	4068											
PKD1	5310	broad.mit.edu	37	chr16	2156826	2156826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcttggagccgctgcTgcaattgaggcagcggccct	13	15	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:2156826T>C	ENST00000262304.4	-	17	7397	c.7189A>G	c.(7189-7191)Agc>Ggc	p.S2397G	PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2397	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGCCGCTGCTGCAATTGAGG	0.662																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7189-7191)Agc>Ggc		polycystic kidney disease 1 (autosomal dominant)							4	6	5					16																	2156826		1156	2279	3435	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156826T>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7189A>G	16.37:g.2156826T>C	ENSP00000262304:p.Ser2397Gly					PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G	p.S2397G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			17	7397	-			2397			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.7189A>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	2.685	-0.274485	0.05679	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.69926	-0.44;-0.44	4.22	3.11	0.35812	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.607624	0.18369	N	0.143312	T	0.54679	0.1873	L	0.51422	1.61	0.22754	N	0.998778	B;B	0.18610	0.029;0.016	B;B	0.23852	0.049;0.026	T	0.38672	-0.9650	10	0.19590	T	0.45	.	5.6771	0.17755	0.0:0.1065:0.3359:0.5576	.	2397;2397	P98161-3;P98161	.;PKD1_HUMAN	G	2397;2397;1748;676	ENSP00000262304:S2397G;ENSP00000399501:S2397G	ENSP00000262304:S2397G	S	-	1	0	PKD1	2096827	1.000000	0.71417	0.960000	0.40013	0.494000	0.33585	2.464000	0.45067	0.782000	0.33613	0.445000	0.29226	AGC		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	71	0	0	0	1	0	7	71					C	2156826	T	C	2156826	3	2	34	1	0	0	0	0	1	0	0	0	12005	1580	55	4	5842	4	PKD1	16	2156826	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	1026902	2156826	88197927	98	4069											
ADCY9	115	broad.mit.edu	37	chr16	4016903	4016903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaaccacctcctggcCgatgaggctggcgggccgcc	15	15	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:4016903C>T	ENST00000294016.3	-	11	3473	c.2935G>A	c.(2935-2937)Ggc>Agc	p.G979S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	979					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTCCTGGCCGATGAGGCTG	0.582																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2935-2937)Ggc>Agc		adenylate cyclase 9							59	69	65					16																	4016903		2195	4300	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016903C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2935G>A	16.37:g.4016903C>T	ENSP00000294016:p.Gly979Ser						p.G979S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3473	-			979					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2935G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041963	0.55003	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.48	5.48	0.80851	.	0.149249	0.64402	D	0.000011	D	0.82337	0.5015	N	0.22421	0.69	0.51767	D	0.999931	D	0.76494	0.999	P	0.59115	0.852	T	0.76348	-0.2992	10	0.08837	T	0.75	.	19.7084	0.96083	0.0:1.0:0.0:0.0	.	979	O60503	ADCY9_HUMAN	S	979	ENSP00000294016:G979S	ENSP00000294016:G979S	G	-	1	0	ADCY9	3956904	0.998000	0.40836	0.970000	0.41538	0.455000	0.32408	3.763000	0.55257	2.739000	0.93911	0.561000	0.74099	GGC		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			119	299	0	0	0	1	0	119	299					T	4016903	C	T	4016903	3	4	34	1	0	0	0	0	1	0	0	0	301	652	23	1	1130	1	ADCY9	16	4016903	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	1860077	4016903	86337850	99	4070											
COQ9	57017	broad.mit.edu	37	chr16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcccttgagtttgtgCccgcccacgggtggacagca	14	14	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						ENST00000262507.6																			2	Substitution - Missense(2)	p.P112S(2)	lung(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(334-336)Ccc>Tcc		coenzyme Q9							107	93	98					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	403	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		5	425	0	0	0	1	0	5	425					T	57486804	C	T	57486804	3	4	34	1	0	0	0	0	1	0	0	0	3760	739	26	2	344	2	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	53469901	57486804	32867949	100	4071											
HSDL1	83693	broad.mit.edu	37	chr16	84164829	84164829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgctttttctggccGtataccaggctccaaccaaa	8	12	1	1	rs143907842		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:84164829G>A	ENST00000219439.4	-	3	274	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	33	Required for mitochondria translocation.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TTTTCTGGCCGTATACCAGGC	0.493																																						ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(97-99)aCg>aTg		hydroxysteroid dehydrogenase like 1		G	MET/THR,MET/THR	0,4400		0,0,2200	122	118	119		98,98	5.8	1	16	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	HSDL1	NM_001146051.1,NM_031463.4	81,81	0,5,6495	AA,AG,GG		0.0581,0.0,0.0385	possibly-damaging,possibly-damaging	33/276,33/331	84164829	5,12995	2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84164829G>A	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.98C>T	16.37:g.84164829G>A	ENSP00000219439:p.Thr33Met					HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			3	274	-			33			Required for mitochondria translocation.		B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.98C>T	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883945	0.51908	0.0	5.81E-4	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.83163	-1.11;-1.69	5.84	5.84	0.93424	.	0.185252	0.47852	D	0.000218	T	0.74581	0.3735	N	0.17082	0.46	0.42561	D	0.993148	D;P	0.64830	0.994;0.812	P;B	0.45449	0.481;0.137	T	0.77161	-0.2689	10	0.45353	T	0.12	-18.6731	14.306	0.66384	0.0706:0.0:0.9294:0.0	.	33;33	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	M	33	ENSP00000407437:T33M;ENSP00000219439:T33M	ENSP00000219439:T33M	T	-	2	0	HSDL1	82722330	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.371000	0.66150	2.765000	0.95021	0.655000	0.94253	ACG		0.493	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		6	653	0	0	0	1	0	6	653					A	84164829	G	A	84164829	3	1	34	1	0	0	0	0	1	0	0	0	7423	1145	40	1	910	1	HSDL1	16	84164829	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	26678025	84164829	6189924	101	4072											
TP53	7157	broad.mit.edu	37	chr17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-													gctgctggtgcaggggccacGgggggagcagcctctggcat					rs56275308		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:7579471delG	ENST00000269305.4	-	4	405	c.216delC	c.(214-216)cccfs	p.P72fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P72fs	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	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16131611, ECO:0000269|PubMed:1999338, ECO:0000269|Ref.17}.		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.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	CAGGGGCCACGGGGGGAGCAG	0.602		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)	ENST00000420246.2		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"		32	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|prostate(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						c.(214-216)ccfs	Other conserved DNA damage response genes	tumor protein p53							85	93	90					17																	7579471		2202	4299	6501	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579471delG	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.216delC	17.37:g.7579471delG	ENSP00000269305:p.Pro72fs	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_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs	p.P72fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	72		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).	Interaction with HRMT1L2.|Interaction with WWOX.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.216delC	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		194	339						194	339	---	---	---	---	-	7579471	G	-	7579471	7	5	34	1	0	1	0	1	0	0	0	0	16434	1103	39	0	1086	0	TP53	17	7579471	Frame_Shift_Del	DEL	G	TCGA-3A-A9IU-01A-11D-A397-08		7579471	73615739	102	4073	26	2									
TP53	7157	broad.mit.edu	37	chr17	7579479	7579479	+	Missense_Mutation	SNP	C	C	T													tgcaggggccacggggggagCagcctctggcattctgggag							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:7579479C>T	ENST00000269305.4	-	4	397	c.208G>A	c.(208-210)Gct>Act	p.A70T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.A70T|TP53_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000420246.2_Missense_Mutation_p.A70T	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	70	Interaction with HRMT1L2.|Interaction with WWOX.		A -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	ACGGGGGGAGCAGCCTCTGGC	0.597		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)	ENST00000420246.2		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"		19	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(2)|Substitution - Missense(1)|Complex - frameshift(1)	p.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(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						c.(208-210)Gct>Act	Other conserved DNA damage response genes	tumor protein p53							99	107	104					17																	7579479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579479C>T	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.208G>A	17.37:g.7579479C>T	ENSP00000269305:p.Ala70Thr	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_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000269305.4_Missense_Mutation_p.A70T|TP53_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000445888.2_Missense_Mutation_p.A70T	p.A70T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	340	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	70		A -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		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.208G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.093	1.002269	0.19121	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99376	-5.28;-5.79;-5.51;-5.79;-5.79;-5.51;-4.19;-2.14	3.66	-2.27	0.06846	.	4.481350	0.01345	N	0.011694	D	0.95092	0.8410	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.27971	0.079;0.049;0.196;0.013;0.031;0.025;0.0	B;B;B;B;B;B;B	0.29785	0.031;0.026;0.107;0.017;0.034;0.022;0.0	D	0.97004	0.9731	10	0.09843	T	0.71	.	1.4508	0.02374	0.1962:0.3205:0.3268:0.1566	.	31;70;70;70;70;70;70	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	70	ENSP00000410739:A70T;ENSP00000352610:A70T;ENSP00000269305:A70T;ENSP00000398846:A70T;ENSP00000391127:A70T;ENSP00000391478:A70T;ENSP00000424104:A70T;ENSP00000426252:A70T	ENSP00000269305:A70T	A	-	1	0	TP53	7520204	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	-0.099000	0.11007	-0.331000	0.08501	-1.242000	0.01536	GCT		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		222	319	0	0	0	1	0	222	319					T	7579479	C	T	7579479	3	4	34	1	0	0	0	0	1	0	0	0	16434	710	25	2	1094	2	TP53	17	7579479	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	8	7579479	73615731	103	4074	26	2									
CCDC55	84081	broad.mit.edu	37	chr17	28505166	28505167	+	Frame_Shift_Ins	INS	-	-	A													gtatttatgatgaaatgcagINSaaaaaaaaggaggaaaataa					rs143842750	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:28505166_28505167insA	ENST00000247026.5	+	4	312_313	c.249_250insA	c.(250-252)aaafs	p.K84fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	84					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(247-252)caaaaafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28505166_28505167insA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.257dupA	17.37:g.28505174_28505174dupA	ENSP00000247026:p.Lys84fs					NSRP1_ENST00000540900.3_3'UTR	p.QK83fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			4	312_313	+			83					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.249_250insA	CCDS11255.1																																																																																				0.332	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		7	409						7	409	---	---	---	---	A	28505167	-	A	28505166	7	5	34	1	0	1	1	0	0	0	0	0	2832	933	33	0	263	0	CCDC55	17	28505166	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	20925687	28505166	52690044	104	4075											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240504	39240504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctctgaccagggctgcAgccaagacctctgtcaggag	13	12	3	2	rs11655310	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:39240504A>G	ENST00000391417.4	+	1	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	16	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		S -> G. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S16G(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607													g|||	3114	0.621805	0.8873	0.6297	5008	,	,		13919	0.3938		0.6153	False		,,,				2504	0.499					ENST00000391417.4																			2	Substitution - Missense(2)	p.S16G(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(46-48)Agc>Ggc		keratin associated protein 4-7							7	16	13					17																	39240504		647	1547	2194	SO:0001583	missense	100132476							g.chr17:39240504A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.46A>G	17.37:g.39240504A>G	ENSP00000375236:p.Ser16Gly						p.S16G	NM_033061.3	NP_149050.3					1	46	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.46A>G	CCDS45673.1	1184	0.5421245421245421	392	0.7967479674796748	210	0.580110497237569	193	0.3374125874125874	389	0.5131926121372031	.	0.007	-1.989467	0.00439	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00591	6.35	3.09	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	7	0.02654	T	1	.	3.8452	0.08931	0.1259:0.0:0.4559:0.4182	rs11655310	16	Q9BYR0	KRA47_HUMAN	G	16	ENSP00000375236:S16G	ENSP00000375236:S16G	S	+	1	0	KRTAP4-9;KRTAP4-7	36494030	0.673000	0.27539	0.190000	0.23270	0.015000	0.08874	0.317000	0.19487	0.103000	0.17682	-0.355000	0.07637	AGC		0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	128	0	0	0	1	0	4	128					G	39240504	A	G	39240504	3	3	34	1	0	0	0	0	1	0	0	0	8586	188	7	4	48	4	KRTAP4-7	17	39240504	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	10735338	39240504	41954706	105	4076											
SOST	50964	broad.mit.edu	37	chr17	41832881	41832882	+	Frame_Shift_Del	DEL	GC	GC	-													gaggccaccaggcgcaccttGcgcgcgcgcggcgcctcacc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:41832881_41832882delGC	ENST00000301691.2	-	2	516_517	c.470_471delGC	c.(469-471)cgcfs	p.R157fs		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	157	CTCK.				cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGCGCACCTTGCGCGCGCGCGG	0.713																																						ENST00000301691.2																			0				large_intestine(2)|lung(3)|prostate(1)	6						c.(469-471)cfs		sclerostin				49,3805		6,37,1884						4.8	1			16	71,7599		13,45,3777	no	frameshift	SOST	NM_025237.2		19,82,5661	A1A1,A1R,RR		0.9257,1.2714,1.0413				120,11404				SO:0001589	frameshift_variant	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41832881_41832882delGC	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"sclerosteosis"			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.470_471delGC	17.37:g.41832889_41832890delGC	ENSP00000301691:p.Arg157fs						p.R157fs	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	2	516_517	-		Breast(137;0.00725)	157			CTCK.		Q495N9	Frame_Shift_Del	DEL	ENST00000301691.2	37	c.470_471delGC	CCDS11468.1																																																																																				0.713	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		7	238						7	238	---	---	---	---	-	41832882	GC	-	41832881	7	5	34	1	0	1	0	1	0	0	0	0	14988	1306	46	0	174	0	SOST	17	41832881	Frame_Shift_Del	DEL	GC	TCGA-3A-A9IU-01A-11D-A397-08	2592377	41832881	39362329	106	4077											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAGCCATATAAAAAAAAGAG	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(916-918)tafs		ATP-binding cassette, sub-family A (ABC1), member 6							75	81	79					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67125767delA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs						p.L306fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			7	1091	-	Breast(10;5.65e-12)		306					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	ENST00000284425.2	37	c.917delT	CCDS11683.1																																																																																				0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		7	365						7	365	---	---	---	---	-	67125767	A	-	67125767	7	5	34	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08	25292886	67125767	14069443	107	4078											
QRICH2	84074	broad.mit.edu	37	chr17	74288916	74288916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatctctaccaggttggGccaaaccagactgatccatt	9	12	1	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:74288916G>A	ENST00000262765.5	-	4	1573	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	465	Gln-rich.									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						accaggttgggccaaaccaga	0.557																																						ENST00000262765.5																			0				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						c.(1393-1395)gCc>gTc		glutamine rich 2							102	89	93					17																	74288916		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288916G>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.1394C>T	17.37:g.74288916G>A	ENSP00000262765:p.Ala465Val						p.A465V	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1573	-			465			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1394C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	-	9.875	1.200097	0.22121	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08370	3.1	5.38	-5.83	0.02325	.	.	.	.	.	T	0.01730	0.0055	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43734	-0.9373	9	0.27082	T	0.32	-3.7961	2.3937	0.04385	0.3394:0.2868:0.2749:0.0989	.	465;465	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	465	ENSP00000262765:A465V	ENSP00000262765:A465V	A	-	2	0	QRICH2	71800511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.107000	0.03316	-0.983000	0.03511	-0.272000	0.10252	GCC		0.557	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		4	137	0	0	0	1	0	4	137					A	74288916	G	A	74288916	3	1	34	1	0	0	0	0	1	0	0	0	12930	1203	42	2	3661	2	QRICH2	17	74288916	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	7163149	74288916	6906294	108	4079											
NPLOC4	55666	broad.mit.edu	37	chr17	79556050	79556050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcgtccttgcatggcaGcaaacactcatcacggacca	11	14	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:79556050G>A	ENST00000331134.6	-	12	1416	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	NPLOC4_ENST00000374747.5_Silent_p.L401L|NPLOC4_ENST00000539314.1_Silent_p.L240L	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTGCATGGCAGCAAACACTCA	0.498																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1201-1203)Ctg>Ttg		nuclear protein localization 4 homolog (S. cerevisiae)							89	93	92					17																	79556050		2072	4226	6298	SO:0001819	synonymous_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79556050G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1201C>T	17.37:g.79556050G>A						NPLOC4_ENST00000539314.1_Silent_p.L240L|NPLOC4_ENST00000331134.6_Silent_p.L401L	p.L401L			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		12	1330	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		401					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	c.1201C>T	CCDS45812.1																																																																																				0.498	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			5	324	0	0	0	1	0	5	324					A	79556050	G	A	79556050	2	1	34	1	0	0	0	0	0	0	0	1	10628	962	34	2		2	NPLOC4	17	79556050	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	5267134	79556050	1639160	109	4080											
KIAA0802	23255	broad.mit.edu	37	chr18	8784181	8784181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgctcaaactgcagcaCgagaaccacgcgctgctgtc	11	13	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:8784181C>T	ENST00000306329.11	+	5	2151	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	SOGA2_ENST00000400050.3_Silent_p.H357H|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Silent_p.H357H|SOGA2_ENST00000517570.1_Silent_p.H357H																							AACTGCAGCACGAGAACCACG	0.677																																						ENST00000359865.3																			0											c.(1069-1071)caC>caT		SOGA family member 2							31	35	33					18																	8784181		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8784181C>T																												ENST00000306329.11:c.2151C>T	18.37:g.8784181C>T						SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.H357H|SOGA2_ENST00000306329.11_Silent_p.H717H|SOGA2_ENST00000400050.3_Silent_p.H357H	p.H357H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1213	+			708						Silent	SNP	ENST00000306329.11	37	c.1071C>T																																																																																					0.677	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			50	155	0	0	0	1	0	50	155					T	8784181	C	T	8784181	2	4	34	1	0	0	0	0	0	0	0	1	8224	535	19	1		1	KIAA0802	18	8784181	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		8784181	69293067	110	4081											
PPP4R1	9989	broad.mit.edu	37	chr18	9583116	9583116	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgataatcaaaaccctaccCaacgtgaaggatcactgatc	7	11	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:9583116C>A	ENST00000400556.3	-	9	990	c.917G>T	c.(916-918)tGg>tTg	p.W306L	PPP4R1_ENST00000400555.3_Splice_Site_p.W289L|PPP4R1_ENST00000580583.1_Intron	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	306					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAACCCTACCCAACGTGAAGG	0.328																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.e9+1		protein phosphatase 4, regulatory subunit 1							53	50	51					18																	9583116		1814	4076	5890	SO:0001630	splice_region_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9583116C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.918+1G>T	18.37:g.9583116C>A						PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Splice_Site_p.W289_splice	p.W306_splice	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			9	990	-			306					Q99774|Q9UNQ7	Splice_Site	SNP	ENST00000400556.3	37	c.918_splice	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856783	0.91433	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.17854	2.25;2.25	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.309004	0.33040	N	0.005343	T	0.43743	0.1261	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.973;0.988	T	0.05305	-1.0893	9	.	.	.	-13.8309	19.5069	0.95121	0.0:1.0:0.0:0.0	.	306;289	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	L	306;289;217	ENSP00000383402:W306L;ENSP00000383401:W289L	.	W	-	2	0	PPP4R1	9573116	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	TGG		0.328	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	Missense_Mutation	4	223	1	0	0.184627	1	0.185609	4	223					A	9583116	C	A	9583116	5	1	34	1	0	0	0	0	0	0	1	0	12450	608	21	3	1983	3	PPP4R1	18	9583116	Splice_Site	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	798935	9583116	68494132	111	4082											
TXNDC2	84203	broad.mit.edu	37	chr18	9887452	9887452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagccatccagcccaagGagggtgacatccccaagtcc	10	14	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:9887452G>A	ENST00000306084.6	+	2	1175	c.976G>A	c.(976-978)Gag>Aag	p.E326K	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E259K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	326	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAGCCCAAGGAGGGTGACAT	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(976-978)Gag>Aag		thioredoxin domain containing 2 (spermatozoa)							126	121	122					18																	9887452		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887452G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.976G>A	18.37:g.9887452G>A	ENSP00000304908:p.Glu326Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E259K|TXNDC2_ENST00000536353.2_3'UTR	p.E326K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1175	+			326			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.976G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	10.04	1.240294	0.22711	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	4.01	-4.64	0.03349	.	0.726907	0.11524	N	0.555413	T	0.13030	0.0316	L	0.42744	1.35	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.28870	-1.0030	9	.	.	.	0.6007	12.674	0.56882	0.1527:0.6758:0.1716:0.0	rs35296779	326	Q86VQ3	TXND2_HUMAN	K	124;259;326;311	ENSP00000350419:E259K;ENSP00000304908:E326K	.	E	+	1	0	TXNDC2	9877452	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.130000	0.00591	-1.037000	0.03283	-1.016000	0.02456	GAG		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	265	0	0	0	1	0	5	265					A	9887452	G	A	9887452	3	1	34	1	0	0	0	0	1	0	0	0	16851	1175	41	2	982	2	TXNDC2	18	9887452	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	304336	9887452	68189796	112	4083											
CELF4	56853	broad.mit.edu	37	chr18	34901802	34901802	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagctactacctcctcGgctctcgctgtccgcaggct	10	17	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:34901802G>A	ENST00000591282.1	-	3	411	c.412C>T	c.(412-414)Cga>Tga	p.R138*	CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000420428.2_Nonsense_Mutation_p.R138*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	138	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CTACCTCCTCGGCTCTCGCTG	0.647											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(412-414)Cga>Tga		CUGBP, Elav-like family member 4							62	51	55					18																	34901802		2203	4300	6503	SO:0001587	stop_gained	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34901802G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.412C>T	18.37:g.34901802G>A	ENSP00000464794:p.Arg138*		OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000591282.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138*	p.R138*	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			3	807	-			138			Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Nonsense_Mutation	SNP	ENST00000591282.1	37	c.412C>T	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.838326|8.838326	0.98972|0.98972	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361683|ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.085967	.|0.47455	.|D	.|0.000223	T|.	0.38214|.	0.1032|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31280|.	-0.9949|.	4|.	0.51188|0.02654	T|T	0.08|1	-2.4113|-2.4113	16.1974|16.1974	0.82040|0.82040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	32|138	.|.	ENSP00000355189:P32L|ENSP00000335631:R138X	P|R	-|-	2|1	0|2	CELF4|CELF4	33155800|33155800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.015000|3.015000	0.49599|0.49599	2.413000|2.413000	0.81919|0.81919	0.484000|0.484000	0.47621|0.47621	CCG|CGA		0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		43	82	0	0	0	1	0	43	82					A	34901802	G	A	34901802	4	1	34	1	0	0	0	0	0	1	0	0	3227	1124	39	1	1088	1	CELF4	18	34901802	Nonsense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	25014350	34901802	43175446	113	4084											
DSEL	92126	broad.mit.edu	37	chr18	65180274	65180274	+	Missense_Mutation	SNP	C	C	A													tcgccagtccacttaagccaCtgcgcacattctcccagttg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180274C>A	ENST00000310045.7	-	2	3075	c.1602G>T	c.(1600-1602)caG>caT	p.Q534H	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACTTAAGCCACTGCGCACATT	0.512																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1600-1602)caG>caT		dermatan sulfate epimerase-like							90	78	82					18																	65180274		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180274C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1602G>T	18.37:g.65180274C>A	ENSP00000310565:p.Gln534His					CTD-2541J13.2_ENST00000583493.1_RNA	p.Q534H	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3075	-		Esophageal squamous(42;0.129)	524					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1602G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541902	0.65198	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18810	2.19	5.67	2.89	0.33648	.	0.067597	0.64402	U	0.000016	T	0.32912	0.0845	L	0.51422	1.61	0.45704	D	0.998613	D	0.67145	0.996	P	0.59703	0.862	T	0.04454	-1.0950	10	0.72032	D	0.01	-9.1529	10.5565	0.45121	0.0:0.7858:0.0:0.2142	.	524	Q8IZU8	DSEL_HUMAN	H	534;524	ENSP00000310565:Q534H	ENSP00000310565:Q534H	Q	-	3	2	DSEL	63331254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	0.735000	0.32537	0.563000	0.77884	CAG		0.512	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		117	133	1	0	3.87673e-39	1	4.13956e-39	117	133					A	65180274	C	A	65180274	3	1	34	1	0	0	0	0	1	0	0	0	4791	564	20	3	2070	3	DSEL	18	65180274	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	30278472	65180274	12896974	114	4085	27	2									
DSEL	92126	broad.mit.edu	37	chr18	65180275	65180275	+	Missense_Mutation	SNP	T	T	A													cgccagtccacttaagccacTgcgcacattctcccagttga							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180275T>A	ENST00000310045.7	-	2	3074	c.1601A>T	c.(1600-1602)cAg>cTg	p.Q534L	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTAAGCCACTGCGCACATTC	0.517																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1600-1602)cAg>cTg		dermatan sulfate epimerase-like							89	78	82					18																	65180275		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180275T>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1601A>T	18.37:g.65180275T>A	ENSP00000310565:p.Gln534Leu					CTD-2541J13.2_ENST00000583493.1_RNA	p.Q534L	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3074	-		Esophageal squamous(42;0.129)	524					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1601A>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954048	0.73902	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18657	2.2	5.67	5.67	0.87782	.	0.067597	0.64402	U	0.000016	T	0.24774	0.0601	L	0.51422	1.61	0.54753	D	0.999981	D	0.53151	0.958	B	0.42692	0.395	T	0.02526	-1.1146	10	0.87932	D	0	-9.1529	15.578	0.76408	0.0:0.0:0.0:1.0	.	524	Q8IZU8	DSEL_HUMAN	L	534;524	ENSP00000310565:Q534L	ENSP00000310565:Q534L	Q	-	2	0	DSEL	63331255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.849000	0.86908	2.169000	0.68431	0.460000	0.39030	CAG		0.517	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		118	134	0	0	0	1	0	118	134					A	65180275	T	A	65180275	3	1	34	1	0	0	0	0	1	0	0	0	4791	1580	55	5	2071	5	DSEL	18	65180275	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	1	65180275	12896973	115	4086	27	2									
ABHD8	79575	broad.mit.edu	37	chr19	17405196	17405196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgtggtagacctcgtcGccctcgggccagtactggcc	14	15	0	1	rs536645024		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:17405196G>A	ENST00000247706.3	-	4	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	350							hydrolase activity (GO:0016787)	p.G350G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGACCTCGTCGCCCTCGGGCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16753	0.001		0.0	False		,,,				2504	0.0				Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			1	Substitution - coding silent(1)	p.G350G(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1048-1050)ggC>ggT		abhydrolase domain containing 8							125	98	107					19																	17405196		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405196G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1050C>T	19.37:g.17405196G>A						MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.G350G	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1289	-			350					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1050C>T	CCDS12355.1																																																																																				0.612	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		119	166	0	0	0	1	0	119	166					A	17405196	G	A	17405196	2	1	34	1	0	0	0	0	0	0	0	1	87	1074	38	1		1	ABHD8	19	17405196	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		17405196	41723787	116	4087											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			13	1345						13	1345	---	---	---	---	-	36255949	CTC	-	36255947	7	5	34	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-3A-A9IU-01A-11D-A397-08	18850751	36255947	22873036	117	4088											
APLP1	333	broad.mit.edu	37	chr19	36362933	36362933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacacttgcagtggtcgGcaaaggtgaggcagtctctg	13	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:36362933G>A	ENST00000221891.4	+	6	1037	c.845G>A	c.(844-846)gGc>gAc	p.G282D	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	282					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GCAGTGGTCGGCAAAGGTGAG	0.582																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(844-846)gGc>gAc		amyloid beta (A4) precursor-like protein 1							82	86	85					19																	36362933		2202	4300	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362933G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.845G>A	19.37:g.36362933G>A	ENSP00000221891:p.Gly282Asp					APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D	p.G282D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1037	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		282					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.845G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051168	0.19827	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93659	-3.18;-3.26	4.71	3.66	0.41972	.	0.353444	0.24920	N	0.034547	D	0.83764	0.5325	N	0.14661	0.345	0.09310	N	0.99999	B;B;B;B	0.22211	0.001;0.066;0.002;0.0	B;B;B;B	0.18871	0.002;0.023;0.001;0.002	T	0.68629	-0.5358	10	0.15066	T	0.55	-6.6187	9.3172	0.37941	0.1058:0.0:0.8942:0.0	.	276;243;282;282	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	243;282	ENSP00000441501:G243D;ENSP00000221891:G282D	ENSP00000221891:G282D	G	+	2	0	APLP1	41054773	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.525000	0.22956	2.171000	0.68590	0.462000	0.41574	GGC		0.582	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		6	727	0	0	0	1	0	6	727					A	36362933	G	A	36362933	3	1	34	1	0	0	0	0	1	0	0	0	778	1203	42	2	867	2	APLP1	19	36362933	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	106986	36362933	22766050	118	4089											
CCDC97	90324	broad.mit.edu	37	chr19	41825698	41825700	+	In_Frame_Del	DEL	AGG	AGG	-													gcagcgtctgctccaacagcAggaggaggaggaggcctgct							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:41825698_41825700delAGG	ENST00000269967.3	+	3	844_846	c.722_724delAGG	c.(721-726)caggag>cag	p.E245del		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	245										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CTCCAACagcaggaggaggagga	0.635																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(721-726)cag>c		coiled-coil domain containing 97																																				SO:0001651	inframe_deletion	90324							g.chr19:41825698_41825700delAGG	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.722_724delAGG	19.37:g.41825707_41825709delAGG	ENSP00000269967:p.Glu245del						p.QE241del	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	844_846	+			241					Q658N6|Q96IF3	In_Frame_Del	DEL	ENST00000269967.3	37	c.722_724delAGG	CCDS12578.1																																																																																				0.635	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		7	217						7	217	---	---	---	---	-	41825700	AGG	-	41825698	7	5	34	1	0	1	0	1	0	0	0	0	2882	188	7	0	732	0	CCDC97	19	41825698	In_Frame_Del	DEL	AGG	TCGA-3A-A9IU-01A-11D-A397-08	5462765	41825698	17303285	119	4090											
RASIP1	54922	broad.mit.edu	37	chr19	49232704	49232704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtgctcagggcccgcGcgcactgtgcagtgacgcgg	18	14	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:49232704G>A	ENST00000222145.4	-	5	1527	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	441					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGGCCCGCGCGCACTGTGC	0.741																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1321-1323)cgC>cgT		Ras interacting protein 1							7	7	7					19																	49232704		2143	4164	6307	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232704G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1323C>T	19.37:g.49232704G>A							p.R441R	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1527	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	441					Q6U676	Silent	SNP	ENST00000222145.4	37	c.1323C>T	CCDS12731.1																																																																																				0.741	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		5	25	0	0	0	1	0	5	25					A	49232704	G	A	49232704	2	1	34	1	0	0	0	0	0	0	0	1	13128	1074	38	1		1	RASIP1	19	49232704	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	7407006	49232704	9896279	120	4091											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	1086	0	0	0	1	0	7	1086					A	53644386	T	A	53644386	2	1	34	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	4411682	53644386	5484597	121	4092											
NLRP8	126205	broad.mit.edu	37	chr19	56466968	56466968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttttcaggaattttttgCggccttgttttatgttctct	8	7	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:56466968C>T	ENST00000291971.3	+	3	1615	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	515	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GAATTTTTTGCGGCCTTGTTT	0.468																																						ENST00000291971.3																			0				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						c.(1543-1545)gCg>gTg		NLR family, pyrin domain containing 8							192	187	189					19																	56466968		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466968C>T	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.1544C>T	19.37:g.56466968C>T	ENSP00000291971:p.Ala515Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1615	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	515			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1544C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862872	0.71949	.	.	ENSG00000179709	ENST00000291971	D	0.90504	-2.68	1.92	1.92	0.25849	.	.	.	.	.	D	0.94499	0.8229	M	0.86268	2.805	0.22435	N	0.999104	D;D	0.89917	1.0;1.0	D;D	0.79108	0.968;0.992	D	0.85147	0.0984	9	0.87932	D	0	.	7.3591	0.26735	0.0:1.0:0.0:0.0	.	515;515	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	515	ENSP00000291971:A515V	ENSP00000291971:A515V	A	+	2	0	NLRP8	61158780	0.991000	0.36638	0.010000	0.14722	0.564000	0.35744	3.092000	0.50207	1.389000	0.46526	0.514000	0.50259	GCG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	978	0	0	0	1	0	6	978					T	56466968	C	T	56466968	3	4	34	1	0	0	0	0	1	0	0	0	10525	768	27	1	1554	1	NLRP8	19	56466968	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	2822582	56466968	2662015	122	4093											
ZNF772	400720	broad.mit.edu	37	chr19	57985198	57985198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcaagtatgggtttgCggctaaaggttttcccacat	12	8	0	1	rs199665856		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:57985198C>T	ENST00000343280.4	-	5	1174	c.914G>A	c.(913-915)cGc>cAc	p.R305H	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.R264H|ZNF772_ENST00000427512.2_Missense_Mutation_p.R193H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TATGGGTTTGCGGCTAAAGGT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		21521	0.0		0.001	False		,,,				2504	0.0				Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(913-915)cGc>cAc		zinc finger protein 772							114	111	112					19																	57985198		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985198C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.914G>A	19.37:g.57985198C>T	ENSP00000341165:p.Arg305His					ZNF772_ENST00000356584.3_Missense_Mutation_p.R264H|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R193H|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron	p.R305H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1174	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	305					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.914G>A	CCDS33133.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.24	1.878605	0.33162	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.17854	2.25;3.2;3.2	3.54	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20618	0.0496	N	0.25286	0.73	0.18873	N	0.999983	B;B;D	0.71674	0.049;0.06;0.998	B;B;D	0.72338	0.004;0.011;0.977	T	0.14531	-1.0469	9	0.12103	T	0.63	.	7.683	0.28524	0.0:0.8543:0.0:0.1456	.	193;264;305	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	305;193;264;230	ENSP00000341165:R305H;ENSP00000395967:R193H;ENSP00000348992:R264H	ENSP00000291809:R230H	R	-	2	0	ZNF772	62677010	0.000000	0.05858	1.000000	0.80357	0.859000	0.49053	0.778000	0.26732	1.829000	0.53265	0.305000	0.20034	CGC		0.458	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		6	768	0	0	0	1	0	6	768					T	57985198	C	T	57985198	3	4	34	1	0	0	0	0	1	0	0	0	18198	768	27	1	559	1	ZNF772	19	57985198	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	1518230	57985198	1143785	123	4094											
A1BG	1	broad.mit.edu	37	chr19	58862886	58862886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcaggtgaaagaagatgcGatctgggctggtgctgctcc	15	8	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:58862886G>A	ENST00000263100.3	-	5	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	261	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAAGATGCGATCTGGGCTG	0.637																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(781-783)Cgc>Tgc		alpha-1-B glycoprotein							85	72	76					19																	58862886		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862886G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.781C>T	19.37:g.58862886G>A	ENSP00000263100:p.Arg261Cys					A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	p.R261C	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	842	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	261			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.781C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772683	0.49680	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.13089	2.62	4.08	0.302	0.15786	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.104360	0.07058	N	0.833228	T	0.37652	0.1011	M	0.77820	2.39	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.28902	-1.0029	10	0.72032	D	0.01	.	11.1079	0.48214	0.0:0.0:0.5207:0.4793	.	261	P04217	A1BG_HUMAN	C	261;139	ENSP00000263100:R261C	ENSP00000263100:R261C	R	-	1	0	A1BG	63554698	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.465000	0.22004	0.042000	0.15717	0.462000	0.41574	CGC		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		81	242	0	0	0	1	0	81	242					A	58862886	G	A	58862886	3	1	34	1	0	0	0	0	1	0	0	0	1	1058	37	1	722	1	A1BG	19	58862886	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	877688	58862886	266097	124	4095											
DNMT3B	1789	broad.mit.edu	37	chr20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgacttggtgattggcGgaagcccatgcaacgatctc	11	10	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185	187	186					20																	31388677		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388677G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg					DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R	p.G648R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		5	803	0	0	0	1	0	5	803					A	31388677	G	A	31388677	3	1	34	1	0	0	0	0	1	0	0	0	4693	1117	39	1	2048	1	DNMT3B	20	31388677	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		31388677	31636843	125	4096											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		12	318						12	318	---	---	---	---	T	58452519	-	T	58452518	7	5	34	1	0	1	1	0	0	0	0	0	15484	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	27063841	58452518	4573002	126	4097											
C20orf177	63939	broad.mit.edu	37	chr20	58519968	58519968	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaaccagcggtcacattCgagttcccaaacaggcagct	10	12	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:58519968C>T	ENST00000358293.3	+	5	1385	c.970C>T	c.(970-972)Cga>Tga	p.R324*	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Nonsense_Mutation_p.R324*	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	324																	CGGTCACATTCGAGTTCCCAA	0.488																																						ENST00000358293.3																			0											c.(970-972)Cga>Tga		family with sequence similarity 217, member B							65	68	67					20																	58519968		2203	4300	6503	SO:0001587	stop_gained	63939							g.chr20:58519968C>T	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.970C>T	20.37:g.58519968C>T	ENSP00000351040:p.Arg324*					FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Nonsense_Mutation_p.R324*	p.R324*	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1385	+			324					B3KWH1|Q9NTA3	Nonsense_Mutation	SNP	ENST00000358293.3	37	c.970C>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	C	37	6.038963	0.97226	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	.	.	.	5.1	2.94	0.34122	.	0.512737	0.15763	N	0.245848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.475	11.9532	0.52966	0.3897:0.6103:0.0:0.0	.	.	.	.	X	324	.	ENSP00000351040:R324X	R	+	1	2	C20orf177	57953363	0.176000	0.23096	0.128000	0.21923	0.038000	0.13279	0.941000	0.29005	2.354000	0.79902	0.591000	0.81541	CGA		0.488	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		54	154	0	0	0	1	0	54	154					T	58519968	C	T	58519968	4	4	34	1	0	0	0	0	0	1	0	0	2103	876	31	1	972	1	C20orf177	20	58519968	Nonsense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	67450	58519968	4505552	127	4098											
OGFR	11054	broad.mit.edu	37	chr20	61444872	61444872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggggacgagccagcCgagagcccatcggagacccc	14	16	0	2	rs369721570		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:61444872C>T	ENST00000290291.6	+	7	1930	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	OGFR_ENST00000370461.1_Silent_p.A583A	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	635	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACGAGCCAGCCGAGAGCCCAT	0.736																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1747-1749)gcC>gcT		opioid growth factor receptor							11	14	13					20																	61444872		2110	4209	6319	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444872C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1905C>T	20.37:g.61444872C>T						OGFR_ENST00000290291.6_Silent_p.A635A|OGFR_ENST00000370468.3_Intron	p.A583A			Q9NZT2	OGFR_HUMAN			5	4026	+	Breast(26;3.65e-08)		635			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1749C>T	CCDS13504.1																																																																																				0.736	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			14	338	0	0	0	1	0	14	338					T	61444872	C	T	61444872	2	4	34	1	0	0	0	0	0	0	0	1	10885	639	23	1		1	OGFR	20	61444872	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	2924904	61444872	1580648	128	4099											
GMEB2	26205	broad.mit.edu	37	chr20	62250746	62250746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacactcacgtcgggagtcGccatggctcagcggaagggg	16	12	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:62250746G>A	ENST00000266068.1	-	1	483	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	2					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GTCGGGAGTCGCCATGGCTCA	0.632																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(4-6)gCg>gTg		glucocorticoid modulatory element binding protein 2							114	70	85					20																	62250746		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62250746G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.5C>T	20.37:g.62250746G>A	ENSP00000266068:p.Ala2Val					GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V	p.A2V			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		1	483	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.5C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509854	0.64522	.	.	ENSG00000101216	ENST00000370077;ENST00000266068	T;T	0.67345	-0.26;-0.26	4.57	4.57	0.56435	.	0.150819	0.43260	D	0.000590	T	0.74007	0.3660	L	0.32530	0.975	0.43137	D	0.994882	D	0.76494	0.999	D	0.70716	0.97	T	0.78448	-0.2200	10	0.87932	D	0	-3.3315	17.3087	0.87202	0.0:0.0:1.0:0.0	.	2	Q9UKD1	GMEB2_HUMAN	V	2	ENSP00000359094:A2V;ENSP00000266068:A2V	ENSP00000266068:A2V	A	-	2	0	GMEB2	61721190	1.000000	0.71417	0.970000	0.41538	0.153000	0.21895	6.679000	0.74513	2.239000	0.73571	0.462000	0.41574	GCG		0.632	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	199	0	0	0	1	0	5	199					A	62250746	G	A	62250746	3	1	34	1	0	0	0	0	1	0	0	0	6517	1087	38	1	1623	1	GMEB2	20	62250746	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	805874	62250746	774774	129	4100											
ZBED4	9889	broad.mit.edu	37	chr22	50279783	50279783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagggggagcactcgagcGtgcagtgcttcagccatacg	15	11	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr22:50279783G>A	ENST00000216268.5	+	2	2950	c.2473G>A	c.(2473-2475)Gtg>Atg	p.V825M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	825						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTCGAGCGTGCAGTGCTT	0.627																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2473-2475)Gtg>Atg		zinc finger, BED-type containing 4							37	37	37					22																	50279783		2202	4300	6502	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279783G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2473G>A	22.37:g.50279783G>A	ENSP00000216268:p.Val825Met						p.V825M	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2950	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	825					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.2473G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611814	0.46631	.	.	ENSG00000100426	ENST00000216268	T	0.28069	1.63	5.57	4.56	0.56223	Ribonuclease H-like (1);	0.118290	0.53938	D	0.000043	T	0.27866	0.0686	L	0.38175	1.15	0.48087	D	0.999586	D	0.57257	0.979	P	0.44518	0.452	T	0.02144	-1.1206	10	0.31617	T	0.26	-40.5602	14.3766	0.66881	0.071:0.0:0.929:0.0	.	825	O75132	ZBED4_HUMAN	M	825	ENSP00000216268:V825M	ENSP00000216268:V825M	V	+	1	0	ZBED4	48665787	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	2.802000	0.47916	1.345000	0.45676	0.655000	0.94253	GTG		0.627	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		36	54	0	0	0	1	0	36	54					A	50279783	G	A	50279783	3	1	34	1	0	0	0	0	1	0	0	0	17573	1145	40	1	2475	1	ZBED4	22	50279783	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		50279783	1024783	130	4101											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		11	138						11	138	---	---	---	---	-	13764946	A	-	13764946	7	5	34	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-3A-A9IU-01A-11D-A397-08		13764946	141505614	131	4102											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	28						9	28	---	---	---	---	-	50350713	TCC	-	50350711	7	5	34	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-3A-A9IU-01A-11D-A397-08	36585765	50350711	104919849	132	4103											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		8	434						8	434	---	---	---	---	-	102004421	GAG	-	102004419	7	5	34	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-3A-A9IU-01A-11D-A397-08	51653708	102004419	53266141	133	4104											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	150						7	150	---	---	---	---	-	119694119	GAG	-	119694117	7	5	34	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-3A-A9IU-01A-11D-A397-08	17689698	119694117	35576443	134	4105											
GPR112	139378	broad.mit.edu	37	chrX	135429875	135429875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcccacttctggaagcaCacagattacaccaaccttga	5	14	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:135429875C>A	ENST00000394143.1	+	6	4301	c.4010C>A	c.(4009-4011)aCa>aAa	p.T1337K	GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K|GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K|GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1337					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)			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)					TCTGGAAGCACACAGATTACA	0.463																																						ENST00000394143.1																			0				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						c.(4009-4011)aCa>aAa		G protein-coupled receptor 112							122	105	111					X																	135429875		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429875C>A	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.4010C>A	X.37:g.135429875C>A	ENSP00000377699:p.Thr1337Lys					GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K|GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K|GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K	p.T1337K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4301	+	Acute lymphoblastic leukemia(192;0.000127)		1337					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4010C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	3.929	-0.016606	0.07681	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.62;1.49	2.81	-0.405	0.12392	.	.	.	.	.	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	P;P;B	0.45827	0.867;0.642;0.421	B;B;B	0.38020	0.263;0.26;0.081	T	0.12066	-1.0562	9	0.54805	T	0.06	.	3.1011	0.06327	0.2101:0.5296:0.0:0.2603	.	1274;1132;1337	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1337;1337;1132;1274;1132	ENSP00000377699:T1337K;ENSP00000359686:T1337K;ENSP00000416526:T1132K;ENSP00000287534:T1274K;ENSP00000377697:T1132K	ENSP00000287534:T1274K	T	+	2	0	GPR112	135257541	0.001000	0.12720	0.001000	0.08648	0.070000	0.16714	0.046000	0.14035	-0.387000	0.07809	0.525000	0.51046	ACA		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			121	104	1	0	1.45844e-59	1	1.57512e-59	121	104					A	135429875	C	A	135429875	3	1	34	1	0	0	0	0	1	0	0	0	6658	478	17	3	4020	3	GPR112	23	135429875	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	15735758	135429875	19840685	135	4106											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	206	0	0	0	1	0	6	206					A	150156360	G	A	150156360	2	1	34	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	14726485	150156360	5114200	136	4107											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853441	12853441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgctgagagaccaggCcttgtccatctctgccatgg	12	13	1	2	rs75270454		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:12853441C>A	ENST00000332296.7	+	2	168	c.65C>A	c.(64-66)gCc>gAc	p.A22D	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	22					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A22D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACCAGGCCTTGTCCATC	0.562																																						ENST00000332296.7																			2	Substitution - Missense(2)	p.A22D(2)	kidney(2)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(64-66)gCc>gAc		PRAME family member 1							71	79	76					1																	12853441		2202	4294	6496	SO:0001583	missense	65121							g.chr1:12853441C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.65C>A	1.37:g.12853441C>A	ENSP00000332134:p.Ala22Asp						p.A22D	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	168	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	22					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.65C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095223	0.08681	.	.	ENSG00000116721	ENST00000332296	T	0.18016	2.24	1.64	-2.04	0.07343	.	0.350802	0.29537	N	0.011869	T	0.18173	0.0436	M	0.73217	2.22	0.09310	N	1	P	0.48089	0.905	P	0.48400	0.576	T	0.11397	-1.0589	10	0.48119	T	0.1	.	1.0347	0.01546	0.2203:0.4057:0.217:0.157	.	22	O95521	PRAM1_HUMAN	D	22	ENSP00000332134:A22D	ENSP00000332134:A22D	A	+	2	0	PRAMEF1	12776028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.611000	0.05709	-3.517000	0.00032	GCC		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	564	1	0	1.16021e-09	1	1.24893e-09	7	564					A	12853441	C	A	12853441	3	1	35	1	0	0	0	0	1	0	0	0	12472	739	26	3	67	3	PRAMEF1	1	12853441	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		12853441	236397180	1	4108											
PRAMEF11	440560	broad.mit.edu	37	chr1	12888459	12888459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctcagagggaggcggCggaagggccaggcctgcacc	19	12	1	1	rs556232264		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:12888459C>T	ENST00000535591.1	-	2	260	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	22					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGGAGGCGGCGGAAGGGCCA	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		16932	0.001		0.0	False		,,,				2504	0.0					ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(64-66)cGc>cAc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12888459C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.65G>A	1.37:g.12888459C>T	ENSP00000439551:p.Arg22His						p.R22H	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			2	260	-			22						Missense_Mutation	SNP	ENST00000535591.1	37	c.65G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.260	-1.000566	0.02128	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04917	3.53;3.53	1.45	-0.678	0.11353	.	1.881130	0.02333	N	0.074092	T	0.03915	0.0110	N	0.16743	0.435	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37220	-0.9715	10	0.14252	T	0.57	.	2.7616	0.05308	0.2175:0.3149:0.4676:0.0	.	22	O60813	PRA11_HUMAN	H	22;63;22	ENSP00000439551:R22H;ENSP00000391839:R22H	ENSP00000328783:R63H	R	-	2	0	PRAMEF11	12811046	0.002000	0.14202	0.002000	0.10522	0.020000	0.10135	0.207000	0.17395	-0.200000	0.10300	-0.814000	0.03130	CGC		0.612	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	245	0	0	0	1	0	5	245					T	12888459	C	T	12888459	3	4	35	1	0	0	0	0	1	0	0	0	12474	768	27	1	1257	1	PRAMEF11	1	12888459	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	35018	12888459	236362162	2	4109											
ZMYM4	9202	broad.mit.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A													gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	327						7	327	---	---	---	---	A	35846960	-	A	35846959	7	5	35	1	0	1	1	0	0	0	0	0	17755	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	22958500	35846959	213403662	3	4110											
MACF1	23499	broad.mit.edu	37	chr1	39799857	39799857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taattggtgaagatttagccGagaaactcaaaagagttgag	11	4	1	5	rs371939396		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:39799857G>A	ENST00000372915.3	+	36	7699	c.7612G>A	c.(7612-7614)Gag>Aag	p.E2538K	MACF1_ENST00000564288.1_Missense_Mutation_p.E2533K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2570K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E973K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2538					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATTTAGCCGAGAAACTCAA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7597-7599)Gag>Aag		microtubule-actin crosslinking factor 1		G	,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64	67	66		,2917	1.7	1	1		66	0,8600		0,0,4300	no	intron,missense	MACF1	NM_012090.4,NM_033044.3	,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,973/5939	39799857	1,13005	2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799857G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7612G>A	1.37:g.39799857G>A	ENSP00000362006:p.Glu2538Lys					MACF1_ENST00000372915.3_Missense_Mutation_p.E2538K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2570K|MACF1_ENST00000289893.4_Missense_Mutation_p.E973K|MACF1_ENST00000539005.1_Intron	p.E2533K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8374	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2538					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7597G>A		.	.	.	.	.	.	.	.	.	.	G	5.542	0.284854	0.10513	2.27E-4	0.0	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.73152	-0.72;-0.72	5.57	1.72	0.24424	.	0.683951	0.14354	N	0.324913	T	0.35158	0.0922	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.02654	T	1	.	5.3617	0.16091	0.5714:0.1398:0.2888:0.0	.	2538	Q9UPN3	MACF1_HUMAN	K	2538;973	ENSP00000362006:E2538K;ENSP00000289893:E973K	ENSP00000289893:E973K	E	+	1	0	MACF1	39572444	0.006000	0.16342	0.997000	0.53966	0.714000	0.41099	0.166000	0.16583	0.388000	0.25054	-0.340000	0.08031	GAG		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		115	201	0	0	0	1	0	115	201					A	39799857	G	A	39799857	3	1	35	1	0	0	0	0	1	0	0	0	9183	1059	37	1	7688	1	MACF1	1	39799857	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	3952898	39799857	209450764	4	4111											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1200						7	1200	---	---	---	---	-	44489938	T	-	44489938	7	5	35	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-3A-A9IV-01A-11D-A40W-08	4690081	44489938	204760683	5	4112											
NBPF15	284565	broad.mit.edu	37	chr1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtggaagagcctgaaGtcttacaggactcactggat	13	7	2	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		14	1173	0	0	0	1	0	14	1173					A	148594434	G	A	148594434	3	1	35	1	0	0	0	0	1	0	0	0	10237	1029	36	2	1865	2	NBPF15	1	148594434	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	104104496	148594434	100656187	6	4113											
NTRK1	4914	broad.mit.edu	37	chr1	156843643	156843643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccacccacgtcaacaacGgcaactacacgctgctggct	8	17	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:156843643G>A	ENST00000524377.1	+	8	1110	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	NTRK1_ENST00000368196.3_Missense_Mutation_p.G357S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G357S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G327S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	357	Ig-like C2-type 2.				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)			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)	CGTCAACAACGGCAACTACAC	0.622			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				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						c.(1069-1071)Ggc>Agc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						75	48	58					1																	156843643		2203	4298	6501	SO:0001583	missense	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.chr1:156843643G>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.1069G>A	1.37:g.156843643G>A	ENSP00000431418:p.Gly357Ser	TSP Lung(10;0.080)				NTRK1_ENST00000358660.3_Missense_Mutation_p.G357S|NTRK1_ENST00000524377.1_Missense_Mutation_p.G357S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G327S	p.G357S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1189	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		357			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1069G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	37	6.081850	0.97267	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.74030	0.3663	M	0.84773	2.715	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;1.0;1.0	T	0.76061	-0.3097	10	0.87932	D	0	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	357;357;357;327	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	327;357;357;357	ENSP00000376120:G327S;ENSP00000357179:G357S;ENSP00000431418:G357S;ENSP00000351486:G357S	ENSP00000351486:G357S	G	+	1	0	NTRK1	155110267	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.796000	0.99103	2.941000	0.99782	0.655000	0.94253	GGC		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		18	48	0	0	0	1	0	18	48					A	156843643	G	A	156843643	3	1	35	1	0	0	0	0	1	0	0	0	10748	1116	39	1	1229	1	NTRK1	1	156843643	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	8249209	156843643	92406978	7	4114											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	537	0	0	0	1	0	5	537					T	223176649	C	T	223176649	3	4	35	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	66333006	223176649	26073972	8	4115											
URB2	9816	broad.mit.edu	37	chr1	229773136	229773136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttactgtccatggccGtcaccaaactaggatgctct	9	11	2	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr1:229773136G>A	ENST00000258243.2	+	4	2912	c.2776G>A	c.(2776-2778)Gtc>Atc	p.V926I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	926						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTCCATGGCCGTCACCAAACT	0.483																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2776-2778)Gtc>Atc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							249	238	242					1																	229773136		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773136G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2776G>A	1.37:g.229773136G>A	ENSP00000258243:p.Val926Ile						p.V926I	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	2912	+			926					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2776G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	0.663	-0.805116	0.02819	.	.	ENSG00000135763	ENST00000258243	T	0.31769	1.48	5.35	-5.17	0.02849	.	1.460380	0.04279	N	0.343556	T	0.14657	0.0354	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.16100	-1.0414	9	.	.	.	-0.9266	4.8683	0.13620	0.4232:0.0865:0.4026:0.0877	.	926	Q14146	URB2_HUMAN	I	926	ENSP00000258243:V926I	.	V	+	1	0	URB2	227839759	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.236000	0.09003	-1.321000	0.02281	-1.128000	0.01989	GTC		0.483	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		6	763	0	0	0	1	0	6	763					A	229773136	G	A	229773136	3	1	35	1	0	0	0	0	1	0	0	0	17079	1145	40	1	2786	1	URB2	1	229773136	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	6596487	229773136	19477485	9	4116											
DTNB	1838	broad.mit.edu	37	chr2	25656844	25656844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcatcaaagttaaagctCaagtcagtgggaggacgagt	13	6	3	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:25656844C>T	ENST00000406818.3	-	13	1527	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	DTNB_ENST00000407661.3_Silent_p.L426L|DTNB_ENST00000496972.2_Silent_p.L369L|DTNB_ENST00000405222.1_Silent_p.L396L|DTNB_ENST00000404103.3_Silent_p.L426L|DTNB_ENST00000545439.1_Silent_p.L222L|DTNB_ENST00000407186.1_Silent_p.L396L|DTNB_ENST00000407038.3_Silent_p.L396L|DTNB_ENST00000288642.8_Silent_p.L426L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	426	Syntrophin-binding region.					cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L426F(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTAAAGCTCAAGTCAGTGG	0.408																																						ENST00000406818.3																			1	Substitution - Missense(1)	p.L426F(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1276-1278)ttG>ttA		dystrobrevin, beta							213	199	203					2																	25656844		1873	4109	5982	SO:0001819	synonymous_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25656844C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1278G>A	2.37:g.25656844C>T						DTNB_ENST00000407038.3_Silent_p.L396L|DTNB_ENST00000407186.1_Silent_p.L396L|DTNB_ENST00000545439.1_Silent_p.L222L|DTNB_ENST00000496972.2_Silent_p.L369L|DTNB_ENST00000405222.1_Silent_p.L396L|DTNB_ENST00000407661.3_Silent_p.L426L|DTNB_ENST00000404103.3_Silent_p.L426L|DTNB_ENST00000288642.8_Silent_p.L426L	p.L426L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			13	1527	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		426			Syntrophin-binding region.		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	c.1278G>A	CCDS46237.1																																																																																				0.408	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		10	369	0	0	0	1	0	10	369					T	25656844	C	T	25656844	2	4	35	1	0	0	0	0	0	0	0	1	4805	825	29	2		2	DTNB	2	25656844	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		25656844	217542529	10	4117											
SMARCAL1	50485	broad.mit.edu	37	chr2	217340008	217340008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacgtgcagcacatccGcatcgatggctccacctcat	9	16	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:217340008G>A	ENST00000357276.4	+	15	2591	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R754H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCACATCCGCATCGATGGC	0.632									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2260-2262)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							89	74	79					2																	217340008		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217340008G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2261G>A	2.37:g.217340008G>A	ENSP00000349823:p.Arg754His					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R754H	p.R754H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	15	2591	+		Renal(323;0.0458)	754			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2261G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888319	0.72524	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	T;T;T	0.80033	-1.33;-1.33;-1.33	5.07	4.2	0.49525	Helicase, C-terminal (3);	0.054564	0.85682	N	0.000000	D	0.83603	0.5290	M	0.89478	3.035	0.80722	D	1	B	0.34015	0.435	B	0.36504	0.226	D	0.84430	0.0576	10	0.51188	T	0.08	-9.5983	12.8662	0.57941	0.0784:0.0:0.9216:0.0	.	754	Q9NZC9	SMAL1_HUMAN	H	754;754;596	ENSP00000349823:R754H;ENSP00000350940:R754H;ENSP00000375974:R596H	ENSP00000349823:R754H	R	+	2	0	SMARCAL1	217048253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.637000	0.83313	1.366000	0.46076	0.655000	0.94253	CGC		0.632	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			87	177	0	0	0	1	0	87	177					A	217340008	G	A	217340008	3	1	35	1	0	0	0	0	1	0	0	0	14823	1087	38	1	2311	1	SMARCAL1	2	217340008	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	191683164	217340008	25859365	11	4118											
GIGYF2	26058	broad.mit.edu	37	chr2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-													gtcagcagcagcagctgccaCagcagcagcagcagcagccg					rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547																																						ENST00000373566.3																			3	Deletion - In frame(3)	p.Q1216delQ(2)|p.Q1237delQ(1)	breast(2)|ovary(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3697-3699)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233712228_233712230delCAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del					GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del	p.Q1238del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3894_3896	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1216			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3697_3699delCAG	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		8	196						8	196	---	---	---	---	-	233712230	CAG	-	233712228	7	5	35	1	0	1	0	1	0	0	0	0	6407	479	17	0	3799	0	GIGYF2	2	233712228	In_Frame_Del	DEL	CAG	TCGA-3A-A9IV-01A-11D-A40W-08	16372220	233712228	9487145	12	4119											
UGT1A9	54600	broad.mit.edu	37	chr2	234581034	234581034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcgatccttttgatAactgtggcttaattgttgcc	8	8	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr2:234581034A>G	ENST00000354728.4	+	1	536	c.454A>G	c.(454-456)Aac>Gac	p.N152D	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152D			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTT	0.398																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(454-456)Aac>Gac									149	147	147					2																	234581034		2203	4300	6503	SO:0001583	missense	0							g.chr2:234581034A>G	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.454A>G	2.37:g.234581034A>G	ENSP00000346768:p.Asn152Asp					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	p.N152D	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	536	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.454A>G	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	5.998	0.367987	0.11352	.	.	ENSG00000241119	ENST00000354728	T	0.59502	0.26	3.41	-1.46	0.08800	.	.	.	.	.	T	0.30947	0.0781	N	0.11154	0.105	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.19778	-1.0295	9	0.87932	D	0	.	1.8048	0.03078	0.3247:0.289:0.2776:0.1087	.	152;152	Q5DSZ5;O60656	.;UD19_HUMAN	D	152	ENSP00000346768:N152D	ENSP00000346768:N152D	N	+	1	0	UGT1A9	234245773	0.000000	0.05858	0.529000	0.27951	0.155000	0.21991	-0.288000	0.08377	-0.219000	0.10003	0.362000	0.22060	AAC		0.398	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		6	472	0	0	0	1	0	6	472					G	234581034	A	G	234581034	3	3	35	1	0	0	0	0	1	0	0	0	17006	362	13	4	456	4	UGT1A9	2	234581034	Missense_Mutation	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	868806	234581034	8618339	13	4120											
NKTR	4820	broad.mit.edu	37	chr3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-													ctccactagaatttggtgaaGaggaggaggaggagattgat							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		8	350						8	350	---	---	---	---	-	42680271	GAG	-	42680269	7	5	35	1	0	1	0	1	0	0	0	0	10490	943	33	0	3119	0	NKTR	3	42680269	In_Frame_Del	DEL	GAG	TCGA-3A-A9IV-01A-11D-A40W-08		42680269	155342161	14	4121											
HTR3D	200909	broad.mit.edu	37	chr3	183756704	183756704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgccctgctcttccgcCtctacctgctcttcatggcc	8	18	4	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:183756704C>T	ENST00000382489.3	+	8	1306	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	HTR3D_ENST00000453435.1_Missense_Mutation_p.L215F|HTR3D_ENST00000428798.2_Missense_Mutation_p.L386F|HTR3D_ENST00000334128.2_Missense_Mutation_p.L261F	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	436					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)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCTCTTCCGCCTCTACCTGCT	0.582																																						ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(1306-1308)Ctc>Ttc		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic							174	159	164					3																	183756704		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756704C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1306C>T	3.37:g.183756704C>T	ENSP00000371929:p.Leu436Phe					HTR3D_ENST00000428798.2_Missense_Mutation_p.L386F|HTR3D_ENST00000453435.1_Missense_Mutation_p.L215F|HTR3D_ENST00000334128.2_Missense_Mutation_p.L261F	p.L436F	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1306	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		436					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1306C>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.874778	0.51695	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	4.18	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.108001	0.37348	N	0.002138	D	0.87446	0.6179	M	0.68317	2.08	0.09310	N	1	D;D;D;D	0.76494	0.974;0.999;0.997;0.998	P;D;D;D	0.77004	0.677;0.989;0.971;0.986	T	0.77576	-0.2536	10	0.72032	D	0.01	-21.1474	7.2179	0.25969	0.1944:0.6178:0.1878:0.0	.	436;261;215;261	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	F	261;386;436;215	ENSP00000334315:L261F;ENSP00000405409:L386F;ENSP00000371929:L436F;ENSP00000389268:L215F	ENSP00000334315:L261F	L	+	1	0	HTR3D	185239398	0.010000	0.17322	0.902000	0.35471	0.951000	0.60555	0.381000	0.20619	0.483000	0.27608	0.563000	0.77884	CTC		0.582	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		295	57	0	0	0	1	0	295	57					T	183756704	C	T	183756704	3	4	35	1	0	0	0	0	1	0	0	0	7477	681	24	2	1506	2	HTR3D	3	183756704	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	141076435	183756704	14265726	15	4122											
KNG1	3827	broad.mit.edu	37	chr3	186442938	186442938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcatcctatatcaacGcagagcccagacctggagcc	10	13	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr3:186442938G>A	ENST00000265023.4	+	4	665	c.453G>A	c.(451-453)acG>acA	p.T151T	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.T151T|KNG1_ENST00000287611.2_Silent_p.T151T	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	151	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CTATATCAACGCAGAGCCCAG	0.493																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(451-453)acG>acA		kininogen 1	Ouabain(DB01092)						104	92	96					3																	186442938		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186442938G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.453G>A	3.37:g.186442938G>A						RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.T151T|KNG1_ENST00000287611.2_Silent_p.T151T	p.T151T	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	665	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		151			Cystatin 2.|O-glycosylated at one site only.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.453G>A	CCDS43183.1																																																																																				0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		4	180	0	0	0	1	0	4	180					A	186442938	G	A	186442938	2	1	35	1	0	0	0	0	0	0	0	1	8457	1074	38	1		1	KNG1	3	186442938	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	2686234	186442938	11579492	16	4123											
CCKAR	886	broad.mit.edu	37	chr4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-													tactccggatgcggttggccCtgctgctgctgccggtggac							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	776						8	776	---	---	---	---	-	26483674	CTG	-	26483672	7	5	35	1	0	1	0	1	0	0	0	0	2887	681	24	0	415	0	CCKAR	4	26483672	In_Frame_Del	DEL	CTG	TCGA-3A-A9IV-01A-11D-A40W-08		26483672	164670604	17	4124											
UBE2K	3093	broad.mit.edu	37	chr4	39779392	39779392	+	Frame_Shift_Del	DEL	A	A	-													tttctagtccagaatacaccAaaaaaatagaaaacctatgt							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:39779392delA	ENST00000261427.5	+	6	774	c.490delA	c.(490-492)aaafs	p.K165fs	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000445950.2_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	165	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						AGAATACACCAAAAAAATAGA	0.363																																					NSCLC(101;689 1592 16105 29682 31745)	ENST00000261427.5																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(490-492)aafs		ubiquitin-conjugating enzyme E2K							100	106	104					4																	39779392		2203	4300	6503	SO:0001589	frameshift_variant	3093				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity	g.chr4:39779392delA	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.490delA	4.37:g.39779392delA	ENSP00000261427:p.Lys165fs					UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Intron	p.K165fs	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN			6	774	+			165			UBA.		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Frame_Shift_Del	DEL	ENST00000261427.5	37	c.490delA	CCDS33976.1																																																																																				0.363	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		8	951						8	951	---	---	---	---	-	39779392	A	-	39779392	7	5	35	1	0	1	0	1	0	0	0	0	16916	131	5	0	512	0	UBE2K	4	39779392	Frame_Shift_Del	DEL	A	TCGA-3A-A9IV-01A-11D-A40W-08	13295720	39779392	151374884	18	4125											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		10	344						10	344	---	---	---	---	-	56304532	CTG	-	56304530	7	5	35	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-3A-A9IV-01A-11D-A40W-08	16525138	56304530	134849746	19	4126											
RASGEF1B	153020	broad.mit.edu	37	chr4	82377910	82377910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccattccgtgaggagttgAaggattttgggtgcaatttt	13	5	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:82377910A>G	ENST00000264400.2	-	4	484	c.333T>C	c.(331-333)ctT>ctC	p.L111L	RASGEF1B_ENST00000509081.1_Silent_p.L111L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000335927.7_Silent_p.L70L|RASGEF1B_ENST00000436139.2_Silent_p.L111L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	111	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TGAGGAGTTGAAGGATTTTGG	0.388																																						ENST00000436139.2																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(331-333)ctT>ctC		RasGEF domain family, member 1B							111	109	110					4																	82377910		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82377910A>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.333T>C	4.37:g.82377910A>G						RASGEF1B_ENST00000509081.1_Silent_p.L111L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000264400.2_Silent_p.L111L|RASGEF1B_ENST00000335927.7_Silent_p.L70L	p.L111L			Q0VAM2	RGF1B_HUMAN			4	459	-			111			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.333T>C	CCDS34022.1																																																																																				0.388	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	452	0	0	0	1	0	5	452					G	82377910	A	G	82377910	2	3	35	1	0	0	0	0	0	0	0	1	13120	233	9	4		4	RASGEF1B	4	82377910	Silent	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	26073380	82377910	108776366	20	4127											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	495						8	495	---	---	---	---	-	106863684	CCA	-	106863682	7	5	35	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-3A-A9IV-01A-11D-A40W-08	24485772	106863682	84290594	21	4128											
LARP1B	55132	broad.mit.edu	37	chr4	129127627	129127627	+	Frame_Shift_Del	DEL	A	A	-													gttttatagttatggactggAaaaaaaattcaggcgagaaa							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:129127627delA	ENST00000326639.6	+	18	2565	c.2354delA	c.(2353-2355)gaafs	p.E785fs	LARP1B_ENST00000264584.5_Frame_Shift_Del_p.E726fs|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.E204fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	785						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TATGGACTGGAAAAAAAATTC	0.289																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2353-2355)gafs		La ribonucleoprotein domain family, member 1B				7,4249		0,7,2121	55	63	60			4.9	1	4		61	6,8236		0,6,4115	no	frameshift	LARP1B	NM_018078.2		0,13,6236	A1A1,A1R,RR		0.0728,0.1645,0.104			129127627	13,12485	2198	4297	6495	SO:0001589	frameshift_variant	55132						RNA binding	g.chr4:129127627delA		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2354delA	4.37:g.129127627delA	ENSP00000321997:p.Glu785fs					LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.E204fs|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000264584.5_Frame_Shift_Del_p.E726fs	p.E785fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			18	2565	+			785					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Frame_Shift_Del	DEL	ENST00000326639.6	37	c.2354delA	CCDS3738.1																																																																																				0.289	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		11	753						11	753	---	---	---	---	-	129127627	A	-	129127627	7	5	35	1	0	1	0	1	0	0	0	0	8660	246	9	0	2550	0	LARP1B	4	129127627	Frame_Shift_Del	DEL	A	TCGA-3A-A9IV-01A-11D-A40W-08	22263945	129127627	62026649	22	4129											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		12	620						12	620	---	---	---	---	-	146077125	CAG	-	146077123	7	5	35	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-3A-A9IV-01A-11D-A40W-08	16949496	146077123	45077153	23	4130											
VEGFC	7424	broad.mit.edu	37	chr4	177608415	177608415	+	Frame_Shift_Del	DEL	T	T	-													tctgtacattcacaggcacaTtttccaggatttaggggttg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:177608415delT	ENST00000280193.2	-	6	1486	c.1071delA	c.(1069-1071)aaafs	p.K357fs	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	357	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CACAGGCACATTTTCCAGGAT	0.428																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(1069-1071)aafs		vascular endothelial growth factor C							254	229	237					4																	177608415		1849	4096	5945	SO:0001589	frameshift_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608415delT	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1071delA	4.37:g.177608415delT	ENSP00000280193:p.Lys357fs					RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	p.K357fs	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1486	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	357			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R9Q8	Frame_Shift_Del	DEL	ENST00000280193.2	37	c.1071delA	CCDS43285.1																																																																																				0.428	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		7	1680						7	1680	---	---	---	---	-	177608415	T	-	177608415	7	5	35	1	0	1	0	1	0	0	0	0	17206	1490	52	0	199	0	VEGFC	4	177608415	Frame_Shift_Del	DEL	T	TCGA-3A-A9IV-01A-11D-A40W-08	31531292	177608415	13545861	24	4131											
FRG1	2483	broad.mit.edu	37	chr4	190883052	190883052	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaattcttaaaaaggctcgGaaagatggatttttgcatga	9	4	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr4:190883052G>A	ENST00000226798.4	+	8	927	c.705G>A	c.(703-705)cgG>cgA	p.R235R		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAGGCTCGGAAAGATGGAT	0.328																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(703-705)cgG>cgA		FSHD region gene 1							81	100	94					4																	190883052		2157	4213	6370	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190883052G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.705G>A	4.37:g.190883052G>A							p.R235R	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	8	927	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	235					A8K775	Silent	SNP	ENST00000226798.4	37	c.705G>A	CCDS34121.1																																																																																				0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	1346	0	0	0	1	0	9	1346					A	190883052	G	A	190883052	2	1	35	1	0	0	0	0	0	0	0	1	6073	1161	41	2		2	FRG1	4	190883052	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	13274637	190883052	271224	25	4132											
TRIM23	373	broad.mit.edu	37	chr5	64910015	64910016	+	Frame_Shift_Ins	INS	-	-	T													aaagctccaataaagcaaaaINSttttttttcaatccccagac							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:64910015_64910016insT	ENST00000231524.9	-	3	646_647	c.275_276insA	c.(274-276)aatfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Ins_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Ins_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92I(1)|p.N92K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAAAGCAAAATTTTTTTTCAA	0.356																																						ENST00000231524.9																			2	Substitution - Missense(2)	p.N92I(1)|p.N92K(1)	large_intestine(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(274-276)attfs		tripartite motif containing 23																																				SO:0001589	frameshift_variant	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64910015_64910016insT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.276dupA	5.37:g.64910023_64910023dupT	ENSP00000231524:p.Asn92fs					TRIM23_ENST00000381018.3_Frame_Shift_Ins_p.I92fs|TRIM23_ENST00000274327.7_Frame_Shift_Ins_p.I92fs	p.I92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	3	646_647	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	92					Q9BZY4|Q9BZY5	Frame_Shift_Ins	INS	ENST00000231524.9	37	c.275_276insA	CCDS3987.1																																																																																				0.356	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		7	596						7	596	---	---	---	---	T	64910016	-	T	64910015	7	5	35	1	0	1	1	0	0	0	0	0	16550	98	4	0	1551	0	TRIM23	5	64910015	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08		64910015	116005245	26	4133											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350232	65350232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacattctgccaatatgaAtttctctaatcataacaatg	3	8	3	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:65350232A>G	ENST00000284037.5	+	21	3475	c.3086A>G	c.(3085-3087)aAt>aGt	p.N1029S	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1025S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1029					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)			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)		GCCAATATGAATTTCTCTAAT	0.418																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3085-3087)aAt>aGt		erbb2 interacting protein							103	99	100					5																	65350232		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.chr5:65350232A>G		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.3086A>G	5.37:g.65350232A>G	ENSP00000284037:p.Asn1029Ser					ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1025S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1029S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1029S	p.N1029S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3475	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1029					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3086A>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191778	0.58017	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.39787	1.26;1.25;1.26;1.45;1.06;1.33;1.25;1.29;1.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;P;D	0.76494	0.999;0.999;0.997;0.998;0.997;0.955;0.999	D;D;D;D;D;P;D	0.85130	0.997;0.993;0.995;0.986;0.985;0.61;0.994	T	0.50039	-0.8874	10	0.21540	T	0.41	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	1029;1029;1029;1025;1029;1029;1029	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	S	1029;1029;1029;1029;1029;1029;1025;1029;1029	ENSP00000284037:N1029S;ENSP00000370330:N1029S;ENSP00000370326:N1029S;ENSP00000370323:N1029S;ENSP00000370322:N1029S;ENSP00000370325:N1029S;ENSP00000422766:N1025S;ENSP00000426632:N1029S;ENSP00000422015:N1029S	ENSP00000284037:N1029S	N	+	2	0	ERBB2IP	65385988	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.695000	0.91298	2.155000	0.67459	0.533000	0.62120	AAT		0.418	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		94	222	0	0	0	1	0	94	222					G	65350232	A	G	65350232	3	3	35	1	0	0	0	0	1	0	0	0	5225	101	4	4	3160	4	ERBB2IP	5	65350232	Missense_Mutation	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	440217	65350232	115565028	27	4134											
ZNF366	167465	broad.mit.edu	37	chr5	71752377	71752377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcatgttggccagcaGggtgaactcccgcccacaaa	10	14	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:71752377G>T	ENST00000318442.5	-	3	1868	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	460	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGGCCAGCAGGGTGAACTCC	0.532																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1378-1380)Ctg>Atg		zinc finger protein 366							264	223	237					5																	71752377		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752377G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1378C>A	5.37:g.71752377G>T	ENSP00000313158:p.Leu460Met						p.L460M	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1868	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	460					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1378C>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039569	0.93630	.	.	ENSG00000178175	ENST00000318442	T	0.08634	3.07	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.245701	0.28996	N	0.013474	T	0.24198	0.0586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00138	-1.2002	10	0.34782	T	0.22	-16.9908	20.1584	0.98127	0.0:0.0:1.0:0.0	.	460	Q8N895	ZN366_HUMAN	M	460	ENSP00000313158:L460M	ENSP00000313158:L460M	L	-	1	2	ZNF366	71788133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.773000	0.95371	0.585000	0.79938	CTG		0.532	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	726	1	0	0.00198382	1	0.00201688	7	726					T	71752377	G	T	71752377	3	4	35	1	0	0	0	0	1	0	0	0	17923	991	35	3	868	3	ZNF366	5	71752377	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	6402145	71752377	109162883	28	4135											
HMGCR	3156	broad.mit.edu	37	chr5	74652258	74652258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaggggatgccatggggatGaacatgatttcaaaggtaag	14	5	2	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:74652258G>T	ENST00000287936.4	+	15	2127	c.1971G>T	c.(1969-1971)atG>atT	p.M657I	HMGCR_ENST00000511206.1_Missense_Mutation_p.M657I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M604I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	657	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCATGGGGATGAACATGATTT	0.358																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1969-1971)atG>atT		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						91	89	90					5																	74652258		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74652258G>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1971G>T	5.37:g.74652258G>T	ENSP00000287936:p.Met657Ile					HMGCR_ENST00000511206.1_Missense_Mutation_p.M657I|HMGCR_ENST00000343975.5_Missense_Mutation_p.M604I	p.M657I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	15	2127	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	657			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1971G>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409399	0.96072	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.50548	0.74;0.74;0.74	6.17	6.17	0.99709	Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding (2);Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.99;0.993;0.994	D	0.86766	0.1970	10	0.87932	D	0	-31.1918	20.8794	0.99867	0.0:0.0:1.0:0.0	.	657;604;657	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	I	657;588;657;604	ENSP00000426745:M657I;ENSP00000287936:M657I;ENSP00000340816:M604I	ENSP00000287936:M657I	M	+	3	0	HMGCR	74688014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.832000	0.99423	2.941000	0.99782	0.655000	0.94253	ATG		0.358	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			128	287	1	0	4.74804e-72	1	5.33062e-72	128	287					T	74652258	G	T	74652258	3	4	35	1	0	0	0	0	1	0	0	0	7261	1290	45	3	2025	3	HMGCR	5	74652258	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	2899881	74652258	106263002	29	4136											
CMYA5	202333	broad.mit.edu	37	chr5	79033053	79033053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaccacaaactcttgcttCaggagcttctccagaaatta	5	11	3	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:79033053C>T	ENST00000446378.2	+	2	8496	c.8465C>T	c.(8464-8466)tCa>tTa	p.S2822L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2822					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTCTTGCTTCAGGAGCTTCT	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(8464-8466)tCa>tTa		cardiomyopathy associated 5							38	38	38					5																	79033053		1855	4092	5947	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79033053C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8465C>T	5.37:g.79033053C>T	ENSP00000394770:p.Ser2822Leu						p.S2822L	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8496	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2822					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8465C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157970	0.21454	.	.	ENSG00000164309	ENST00000446378	T	0.44083	0.93	5.87	4.99	0.66335	.	0.163612	0.29410	N	0.012236	T	0.29321	0.0730	L	0.43701	1.375	0.21445	N	0.99968	P	0.35050	0.482	B	0.30029	0.11	T	0.14924	-1.0455	10	0.15066	T	0.55	.	9.0387	0.36305	0.0:0.7739:0.1478:0.0784	.	2822	Q8N3K9	CMYA5_HUMAN	L	2822	ENSP00000394770:S2822L	ENSP00000394770:S2822L	S	+	2	0	CMYA5	79068809	0.131000	0.22433	0.312000	0.25196	0.167000	0.22549	0.528000	0.23002	1.470000	0.48102	0.655000	0.94253	TCA		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		155	81	0	0	0	1	0	155	81					T	79033053	C	T	79033053	3	4	35	1	0	0	0	0	1	0	0	0	3599	838	29	2	8471	2	CMYA5	5	79033053	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	4380795	79033053	101882207	30	4137											
RASGRF2	5924	broad.mit.edu	37	chr5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-													cctgacaacttccagcagtcCcaccaccaccacccagagtc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	439						7	439	---	---	---	---	-	80409568	CCA	-	80409566	7	5	35	1	0	1	0	1	0	0	0	0	13123	623	22	0	2355	0	RASGRF2	5	80409566	In_Frame_Del	DEL	CCA	TCGA-3A-A9IV-01A-11D-A40W-08	1376513	80409566	100505694	31	4138											
VCAN	1462	broad.mit.edu	37	chr5	82815406	82815406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaattacccacacctacTggcagtaccaagaagccctg	6	15	0	1	rs144399722	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:82815406T>C	ENST00000265077.3	+	7	1846	c.1281T>C	c.(1279-1281)acT>acC	p.T427T	VCAN_ENST00000342785.4_Silent_p.T427T|VCAN_ENST00000512590.2_Silent_p.T379T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	427	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)			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)	CCACACCTACTGGCAGTACCA	0.463													T|||	10	0.00199681	0.0076	0.0	5008	,	,		20422	0.0		0.0	False		,,,				2504	0.0					ENST00000265077.3																			0				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						c.(1279-1281)acT>acC		versican		T	,,,	11,4395	15.5+/-35.6	0,11,2192	83	85	84		,,1281,1281	3.5	0	5	dbSNP_134	84	0,8600		0,0,4300	no	intron,intron,coding-synonymous,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	,,,	,,427/1643,427/3397	82815406	11,12995	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.chr5:82815406T>C	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.1281T>C	5.37:g.82815406T>C						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.T379T|VCAN_ENST00000342785.4_Silent_p.T427T|VCAN_ENST00000343200.5_Intron	p.T427T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1846	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	427			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1281T>C	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		99	263	0	0	0	1	0	99	263					C	82815406	T	C	82815406	2	2	35	1	0	0	0	0	0	0	0	1	17192	1567	55	4		4	VCAN	5	82815406	Silent	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	2405840	82815406	98099854	32	4139											
RASA1	5921	broad.mit.edu	37	chr5	86674214	86674214	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaatatttgtgtagaTgaagccactaccctatttcg	7	7	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:86674214T>C	ENST00000274376.6	+	18	2910	c.2346T>C	c.(2344-2346)gaT>gaC	p.D782D	RASA1_ENST00000512763.1_Splice_Site_p.D615D|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Splice_Site_p.D605D|RASA1_ENST00000506290.1_Splice_Site_p.D616D	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	782	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTGTGTAGATGAAGCCACTA	0.373																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.e18-1		RAS p21 protein activator (GTPase activating protein) 1							88	85	86					5																	86674214		2203	4300	6503	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674214T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2345-1T>C	5.37:g.86674214T>C						RASA1_ENST00000274376.6_Splice_Site_p.D782_splice|RASA1_ENST00000506290.1_Splice_Site_p.D616_splice|RASA1_ENST00000512763.1_Splice_Site_p.D615_splice	p.D605_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	1930	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	782			C2.		B2R6W3|Q9UDI1	Splice_Site	SNP	ENST00000274376.6	37	c.1813_splice	CCDS34200.1																																																																																				0.373	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Silent	200	144	0	0	0	1	0	200	144					C	86674214	T	C	86674214	5	2	35	1	0	0	0	0	0	0	1	0	13110	1478	51	4	2428	4	RASA1	5	86674214	Splice_Site	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	3858808	86674214	94241046	33	4140											
KDM3B	51780	broad.mit.edu	37	chr5	137754813	137754814	+	Frame_Shift_Del	DEL	AG	AG	-													gttcggcatcaaatagcaatAgtgaactgaaagccatcagg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:137754813_137754814delAG	ENST00000314358.5	+	14	3807_3808	c.3607_3608delAG	c.(3607-3609)agtfs	p.S1203fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.S859fs|KDM3B_ENST00000542866.1_Frame_Shift_Del_p.S235fs|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1203					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAATAGCAATAGTGAACTGAAA	0.52																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3607-3609)tfs		lysine (K)-specific demethylase 3B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137754813_137754814delAG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3607_3608delAG	5.37:g.137754813_137754814delAG	ENSP00000326563:p.Ser1203fs					KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.S859fs|KDM3B_ENST00000542866.1_Frame_Shift_Del_p.S235fs	p.S1203fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			14	3807_3808	+			1203					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.3607_3608delAG	CCDS34242.1																																																																																				0.52	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		91	216						91	216	---	---	---	---	-	137754814	AG	-	137754813	7	5	35	1	0	1	0	1	0	0	0	0	8157	420	15	0	3661	0	KDM3B	5	137754813	Frame_Shift_Del	DEL	AG	TCGA-3A-A9IV-01A-11D-A40W-08	51080599	137754813	43160447	34	4141											
PCDHB16	57717	broad.mit.edu	37	chr5	140563238	140563238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagatagtagttgctgttttCagcgtttcagatcctgactc	10	8	2	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140563238C>T	ENST00000361016.2	+	1	2259	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTGTTTTCAGCGTTTCAG	0.493																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1102-1104)ttC>ttT									82	85	84					5																	140563238		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563238C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1104C>T	5.37:g.140563238C>T							p.F368F	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2259	+			368			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1104C>T	CCDS4251.1																																																																																				0.493	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		8	442	0	0	0	1	0	8	442					T	140563238	C	T	140563238	2	4	35	1	0	0	0	0	0	0	0	1	11583	825	29	2		2	PCDHB16	5	140563238	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	2808425	140563238	40352022	35	4142											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762765	140762765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatctgcgctcagagtgCgcggtgtctggtaaacttta	13	8	3	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140762765C>T	ENST00000518325.1	+	1	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGTGCGCGGTGTCTG	0.483																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(298-300)gCg>gTg									51	60	57					5																	140762765		2173	4284	6457	SO:0001583	missense	0							g.chr5:140762765C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.299C>T	5.37:g.140762765C>T	ENSP00000430024:p.Ala100Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A100V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	299	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.299C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	8.524	0.869435	0.17322	.	.	ENSG00000253537	ENST00000518325	T	0.28069	1.63	4.86	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25531	0.0621	L	0.48218	1.51	0.09310	N	1	B;B	0.23377	0.053;0.084	B;B	0.19391	0.025;0.014	T	0.20472	-1.0274	9	0.46703	T	0.11	.	6.744	0.23451	0.3719:0.5432:0.0:0.0849	.	100;100	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	100	ENSP00000430024:A100V	ENSP00000430024:A100V	A	+	2	0	PCDHGA7	140742949	0.000000	0.05858	0.945000	0.38365	0.278000	0.26855	-0.675000	0.05227	0.552000	0.29026	0.655000	0.94253	GCG		0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	440	0	0	0	1	0	5	440					T	140762765	C	T	140762765	3	4	35	1	0	0	0	0	1	0	0	0	11601	768	27	1	301	1	PCDHGA7	5	140762765	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	199527	140762765	40152495	36	4143											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799824	140799826	+	In_Frame_Del	DEL	AAG	AAG	-													ctcccagcgttgaagcagatAagaagattcttaaacaggta							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:140799824_140799826delAAG	ENST00000398594.2	+	1	2398_2400	c.2398_2400delAAG	c.(2398-2400)aagdel	p.K801del	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	801					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCAGATAAGAAGATTCTTA	0.305																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(2398-2400)del																																						SO:0001651	inframe_deletion	0							g.chr5:140799824_140799826delAAG	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2398_2400delAAG	5.37:g.140799827_140799829delAAG	ENSP00000381594:p.Lys801del					PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.K801del	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2398_2400	+								Q9UN63	In_Frame_Del	DEL	ENST00000398594.2	37	c.2398_2400delAAG	CCDS47293.1																																																																																				0.305	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		167	160						167	160	---	---	---	---	-	140799826	AAG	-	140799824	7	5	35	1	0	1	0	1	0	0	0	0	11610	363	13	0	2400	0	PCDHGB7	5	140799824	In_Frame_Del	DEL	AAG	TCGA-3A-A9IV-01A-11D-A40W-08	37059	140799824	40115436	37	4144											
DOCK2	1794	broad.mit.edu	37	chr5	169506095	169506095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtccaagaagaggacaaagaGaagcagcgtagtttttgcgg	14	6	0	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr5:169506095G>A	ENST00000256935.8	+	49	5191	c.5111G>A	c.(5110-5112)aGa>aAa	p.R1704K	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1196K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R765K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1704					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)			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)			AGGACAAAGAGAAGCAGCGTA	0.587																																						ENST00000256935.8																			0				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						c.(5110-5112)aGa>aAa		dedicator of cytokinesis 2							81	78	79					5																	169506095		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.chr5:169506095G>A	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.5111G>A	5.37:g.169506095G>A	ENSP00000256935:p.Arg1704Lys					DOCK2_ENST00000520908.1_Missense_Mutation_p.R1196K|DOCK2_ENST00000540750.1_Missense_Mutation_p.R765K|DOCK2_ENST00000523351.1_3'UTR	p.R1704K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5191	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1704					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5111G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767146	0.49574	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08193	3.79;3.41;3.12	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.11201	0.11	0.32738	N	0.508016	D;P;D	0.64830	0.994;0.615;0.982	D;B;D	0.70716	0.97;0.1;0.952	T	0.02491	-1.1151	10	0.02654	T	1	.	17.0938	0.86628	0.0:0.0:1.0:0.0	.	1196;260;1704	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	K	1704;1196;765	ENSP00000256935:R1704K;ENSP00000429283:R1196K;ENSP00000438827:R765K	ENSP00000256935:R1704K	R	+	2	0	DOCK2	169438673	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	6.631000	0.74277	2.389000	0.81357	0.650000	0.86243	AGA		0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		175	115	0	0	0	1	0	175	115					A	169506095	G	A	169506095	3	1	35	1	0	0	0	0	1	0	0	0	4703	942	33	2	5305	2	DOCK2	5	169506095	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	28706271	169506095	11409165	38	4145											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			3	35	1	0	0.00024832	1	0.000255295	3	35					T	13711709	G	T	13711709	3	4	35	1	0	0	0	0	1	0	0	0	13082	1116	39	3	2216	3	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		13711709	157403358	39	4146											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggacgaaatgCcggtgtcagggtggacctgc	15	11	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547																																						ENST00000607124.1																			2	Substitution - Missense(2)	p.G54D(2)	prostate(1)|kidney(1)	breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(160-162)gGc>gAc		histone cluster 1, H2bj							207	196	200					6																	27100369		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100369C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.161G>A	6.37:g.27100369C>T	ENSP00000476136:p.Gly54Asp					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D	p.G54D			P06899	H2B1J_HUMAN			1	160	-			54					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.161G>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377785	0.61735	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.69435	-0.4;-0.4	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83133	0.5188	M	0.93150	3.385	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	D	0.87687	0.2551	9	0.87932	D	0	.	14.8046	0.69942	0.0:1.0:0.0:0.0	.	54	P06899	H2B1J_HUMAN	D	54	ENSP00000445633:G54D;ENSP00000342886:G54D	ENSP00000342886:G54D	G	-	2	0	HIST1H2BJ	27208348	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	4.245000	0.58734	2.273000	0.75805	0.591000	0.81541	GGC		0.547	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		9	733	0	0	0	1	0	9	733					T	27100369	C	T	27100369	3	4	35	1	0	0	0	0	1	0	0	0	7179	739	26	2	223	2	HIST1H2BJ	6	27100369	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	13388660	27100369	144014698	40	4147											
HSPA1A	3303	broad.mit.edu	37	chr6	31785295	31785295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacgccaacaccttggccGagaaggacgagtttgagcac	13	11	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:31785295G>A	ENST00000375651.5	+	1	2005	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	HSPA1A_ENST00000458062.2_Missense_Mutation_p.E497K|HSPA1A_ENST00000608703.1_Missense_Mutation_p.E423K|HSPA1L_ENST00000417199.3_5'Flank|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	588					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						CACCTTGGCCGAGAAGGACGA	0.607																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1762-1764)Gag>Aag		heat shock 70kDa protein 1A							51	39	43					6																	31785295		1689	3445	5134	SO:0001583	missense	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785295G>A	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1762G>A	6.37:g.31785295G>A	ENSP00000364802:p.Glu588Lys					HSPA1A_ENST00000458062.2_Missense_Mutation_p.E497K	p.E588K	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN			1	2005	+			588					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.1762G>A	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120373	0.77323	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062	T;T	0.01034	5.42;5.42	3.66	3.66	0.41972	.	0.000000	0.38837	N	0.001559	T	0.01061	0.0035	M	0.68952	2.095	0.48185	D	0.999606	B;P;P	0.47910	0.431;0.902;0.882	B;P;B	0.45610	0.056;0.487;0.419	T	0.64219	-0.6459	10	0.87932	D	0	-14.937	13.2562	0.60081	0.0:0.0:1.0:0.0	.	351;588;423	B4DNX1;P08107;Q5SP16	.;HSP71_HUMAN;.	K	588;423;570;497	ENSP00000364802:E588K;ENSP00000402651:E497K	ENSP00000364802:E588K	E	+	1	0	HSPA1A	31893274	1.000000	0.71417	0.631000	0.29282	0.959000	0.62525	9.497000	0.97970	2.066000	0.61787	0.305000	0.20034	GAG		0.607	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			115	63	0	0	0	1	0	115	63					A	31785295	G	A	31785295	3	1	35	1	0	0	0	0	1	0	0	0	7438	1059	37	1	1764	1	HSPA1A	6	31785295	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	4684926	31785295	139329772	41	4148											
MOCS1	4337	broad.mit.edu	37	chr6	39876859	39876859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatgggccggttcttcatCtgggaaatactgaacatgcc	10	10	4	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:39876859C>T	ENST00000340692.5	-	10	1125	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	MOCS1_ENST00000373186.4_Silent_p.Q374Q|MOCS1_ENST00000373188.2_Silent_p.Q374Q|MOCS1_ENST00000373175.4_Silent_p.Q345Q|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000432280.2_Silent_p.Q345Q|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000425303.2_Silent_p.Q374Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	374	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTTCTTCATCTGGGAAATAC	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1120-1122)caG>caA		molybdenum cofactor synthesis 1							103	89	94					6																	39876859		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39876859C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1122G>A	6.37:g.39876859C>T						MOCS1_ENST00000373188.2_Silent_p.Q374Q|MOCS1_ENST00000373175.4_Silent_p.Q345Q|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.Q345Q|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000425303.2_Silent_p.Q374Q|MOCS1_ENST00000340692.5_Silent_p.Q374Q	p.Q374Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			9	1259	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		374			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1122G>A																																																																																					0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		64	109	0	0	0	1	0	64	109					T	39876859	C	T	39876859	2	4	35	1	0	0	0	0	0	0	0	1	9731	912	32	2		2	MOCS1	6	39876859	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	8091564	39876859	131238208	42	4149											
RNGTT	8732	broad.mit.edu	37	chr6	89638988	89638988	+	Splice_Site	DEL	T	T	-													ccaacaagcccattttaaccTaaaaaaaaaaaaaaatgaaa					rs79488860		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:89638988delT	ENST00000369485.4	-	3	361		c.e3-2		RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATTTTAACCTAAAAAAAAAA	0.299																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.e3-2		RNA guanylyltransferase and 5'-phosphatase							23	25	24					6																	89638988		2165	4252	6417	SO:0001630	splice_region_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638988delT	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.175-2A>-	6.37:g.89638988delT						RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site		NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	3	361	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)						E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Splice_Site	DEL	ENST00000369485.4	37		CCDS5017.1																																																																																				0.299	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		Intron	8	339						8	339	---	---	---	---	-	89638988	T	-	89638988	8	5	35	1	0	1	0	1	0	0	1	0	13553	1536	53	0	1676	0	RNGTT	6	89638988	Splice_Site	DEL	T	TCGA-3A-A9IV-01A-11D-A40W-08	49762129	89638988	81476079	43	4150											
PHACTR2	9749	broad.mit.edu	37	chr6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A													gtgatgaagtgcctcccattINSaaaaaaaataccaaggctcc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(577-582)ataaaafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000305766.6_Intron	p.IK193fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		7	325						7	325	---	---	---	---	A	144081696	-	A	144081695	7	5	35	1	0	1	1	0	0	0	0	0	11852	1742	61	0	647	0	PHACTR2	6	144081695	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	54442707	144081695	27033372	44	4151											
SYNE1	23345	broad.mit.edu	37	chr6	152650992	152650992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccttgtgactcagcGcattcatgattctcaagctg	7	12	3	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:152650992G>A	ENST00000367255.5	-	78	15429	c.14828C>T	c.(14827-14829)gCg>gTg	p.A4943V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A4690V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4943V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4872V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4943					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGACTCAGCGCATTCATGAT	0.488										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14827-14829)gCg>gTg		spectrin repeat containing, nuclear envelope 1							276	267	270					6																	152650992		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152650992G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14828C>T	6.37:g.152650992G>A	ENSP00000356224:p.Ala4943Val	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.A4943V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4872V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4690V	p.A4943V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15429	-		Ovarian(120;0.0955)	4943					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14828C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412350	0.25465	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000011	T	0.51856	0.1699	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.69078	0.997;0.964;0.964;0.979	P;B;B;P	0.57548	0.823;0.293;0.293;0.487	T	0.28073	-1.0055	10	0.31617	T	0.26	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	4943;4943;4943;4872	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	4943;4872;4943;4872;4690	ENSP00000356224:A4943V;ENSP00000396024:A4872V;ENSP00000265368:A4943V;ENSP00000390975:A4872V;ENSP00000341887:A4690V	ENSP00000265368:A4943V	A	-	2	0	SYNE1	152692685	1.000000	0.71417	0.654000	0.29608	0.287000	0.27160	8.010000	0.88615	2.861000	0.98227	0.655000	0.94253	GCG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	870	0	0	0	1	0	7	870					A	152650992	G	A	152650992	3	1	35	1	0	0	0	0	1	0	0	0	15497	1087	38	1	11914	1	SYNE1	6	152650992	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	8569297	152650992	18464075	45	4152											
SYNE1	23345	broad.mit.edu	37	chr6	152786392	152786392	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcatgaaccaatcttaCctttttggcattttctgatt	5	8	2	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr6:152786392C>T	ENST00000367255.5	-	18	2534		c.e18+1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000495090.2_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCAATCTTACCTTTTTGGCA	0.403										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e18+1		spectrin repeat containing, nuclear envelope 1							138	124	129					6																	152786392		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786392C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1932+1G>A	6.37:g.152786392C>T		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000495090.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2534	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940138	0.73557	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152828085	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	7.803000	0.85983	2.746000	0.94184	0.655000	0.94253	.		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	220	38	0	0	0	1	0	220	38					T	152786392	C	T	152786392	5	4	35	1	0	0	0	0	0	0	1	0	15497	521	18	2	25049	2	SYNE1	6	152786392	Splice_Site	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	135400	152786392	18328675	46	4153											
SUN1	23353	broad.mit.edu	37	chr7	897583	897583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgagacagtggatgccGtacaagaaagagtgagcttt	14	6	0	4	rs371879209		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:897583G>A	ENST00000405266.1	+	14	1648	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	SUN1_ENST00000389574.3_Missense_Mutation_p.V422I|SUN1_ENST00000452783.2_Missense_Mutation_p.V402I|SUN1_ENST00000413514.2_Missense_Mutation_p.V303I|SUN1_ENST00000456758.2_Missense_Mutation_p.V694I|SUN1_ENST00000425407.2_Missense_Mutation_p.V422I|SUN1_ENST00000401592.1_Missense_Mutation_p.V505I			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	532					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGGATGCCGTACAAGAAAG	0.438																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2080-2082)Gta>Ata		Sad1 and UNC84 domain containing 1		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3903		0,1,1951	122	129	127		1513,1204,1264	-9.7	0	7		127	0,8272		0,0,4136	no	missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	29,29,29	0,1,6087	AA,AG,GG		0.0,0.0256,0.0082	benign,benign,benign	505/786,402/683,422/703	897583	1,12175	1952	4136	6088	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897583G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1624G>A	7.37:g.897583G>A	ENSP00000384116:p.Val542Ile					SUN1_ENST00000425407.2_Missense_Mutation_p.V422I|SUN1_ENST00000401592.1_Missense_Mutation_p.V505I|SUN1_ENST00000389574.3_Missense_Mutation_p.V422I|SUN1_ENST00000452783.2_Missense_Mutation_p.V402I|SUN1_ENST00000405266.1_Missense_Mutation_p.V542I|SUN1_ENST00000413514.2_Missense_Mutation_p.V303I	p.V694I			O94901	SUN1_HUMAN			19	2080	+			532			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2080G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.373|3.373	-0.128094|-0.128094	0.06753|0.06753	2.56E-4|2.56E-4	0.0|0.0	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.22743	.|2.28;2.3;2.3;2.3;2.3;2.3;1.98;1.94	4.84|4.84	-9.68|-9.68	0.00528|0.00528	.|.	.|2.927020	.|0.01198	.|N	.|0.007517	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.27264	.|0.022;0.017;0.005;0.173;0.0;0.001	.|B;B;B;B;B;B	.|0.10450	.|0.002;0.002;0.003;0.005;0.002;0.001	T|T	0.14008|0.14008	-1.0488|-1.0488	5|10	.|0.08837	.|T	.|0.75	0.0022|0.0022	4.8643|4.8643	0.13600|0.13600	0.1517:0.3594:0.401:0.088|0.1517:0.3594:0.401:0.088	.|.	.|303;402;505;694;532;422	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	H|I	353|694;422;402;542;505;532;422;430;303	.|ENSP00000388743:V694I;ENSP00000374225:V422I;ENSP00000413439:V402I;ENSP00000384116:V542I;ENSP00000384015:V505I;ENSP00000392309:V422I;ENSP00000409909:V430I;ENSP00000389313:V303I	.|ENSP00000297445:V532I	R|V	+|+	2|1	0|0	SUN1|SUN1	864109|864109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.297000|-1.297000	0.02759|0.02759	-3.722000|-3.722000	0.00115|0.00115	-3.932000|-3.932000	0.00016|0.00016	CGT|GTA		0.438	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		8	876	0	0	0	1	0	8	876					A	897583	G	A	897583	3	1	35	1	0	0	0	0	1	0	0	0	15443	1145	40	1	1746	1	SUN1	7	897583	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		897583	158241080	47	4154											
PAPOLB	56903	broad.mit.edu	37	chr7	4900316	4900316	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcacttgccagaagtacaaTataatgcttgtacttttgaa	7	7	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:4900316T>A	ENST00000404991.1	-	1	1309	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	375					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGAAGTACAATATAATGCTTG	0.423																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1123-1125)Att>Ttt		poly(A) polymerase beta (testis specific)							133	138	136					7																	4900316		2200	4300	6500	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900316T>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1123A>T	7.37:g.4900316T>A	ENSP00000384700:p.Ile375Phe					RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.I375F	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1309	-		Ovarian(82;0.0175)	375					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1123A>T		.	.	.	.	.	.	.	.	.	.	T	15.81	2.942236	0.53079	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.76786	0.4036	M	0.82823	2.61	0.58432	D	0.999996	D	0.76494	0.999	D	0.76071	0.987	T	0.78902	-0.2021	8	0.87932	D	0	.	7.2978	0.26403	0.1958:0.0:0.0:0.8042	.	376	A4D1Z6	.	F	375	.	ENSP00000384700:I375F	I	-	1	0	PAPOLB	4866842	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	3.899000	0.56288	2.142000	0.66516	0.383000	0.25322	ATT		0.423	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	851	0	0	0	1	0	8	851					A	4900316	T	A	4900316	3	1	35	1	0	0	0	0	1	0	0	0	11472	1406	49	5	791	5	PAPOLB	7	4900316	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	4002733	4900316	154238347	48	4155											
HOXA1	3198	broad.mit.edu	37	chr7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-													tagccggctgggggtggcgaTggtggtggtggtggtggtgg					rs2074398|rs587777901|rs544314279	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)caccat>cat	p.71_72HH>H	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.71_72HH>H|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggggtggcgatggtggtggtggt	0.64											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(211-216)cat>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135317_27135319delTGG		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213_215delCCA	7.37:g.27135326_27135328delTGG	ENSP00000343246:p.His72del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del	p.HH71del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	274_276	-			71			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.213_215delCCA	CCDS5401.1																																																																																				0.64	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	357						7	357	---	---	---	---	-	27135319	TGG	-	27135317	7	5	35	1	0	1	0	1	0	0	0	0	7318	1464	51	0	800	0	HOXA1	7	27135317	In_Frame_Del	DEL	TGG	TCGA-3A-A9IV-01A-11D-A40W-08	22235001	27135317	132003346	49	4156											
C7orf16	10842	broad.mit.edu	37	chr7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-													cctgaatgttgagtcagaccAaaaaaaaccaaggaggaaag							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142	138	140		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		9	1096						9	1096	---	---	---	---	-	31735179	A	-	31735179	7	5	35	1	0	1	0	1	0	0	0	0	2385	130	5	0	185	0	C7orf16	7	31735179	Frame_Shift_Del	DEL	A	TCGA-3A-A9IV-01A-11D-A40W-08	4599862	31735179	127403484	50	4157											
TXNDC3	51314	broad.mit.edu	37	chr7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgcgatggacagtttgCcggtcaaccagttgtatggc	13	8	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGACAGTTTGCCGGTCAACCA	0.368																																						ENST00000199447.4																			0											c.(1279-1281)Ccg>Tcg		NME/NM23 family member 8							98	96	96					7																	37927910		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927910C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1279C>T	7.37:g.37927910C>T	ENSP00000199447:p.Pro427Ser					NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	p.P427S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			15	1651	+			427			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1279C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001785	0.35320	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52057	0.68;0.68	4.42	4.42	0.53409	.	0.957326	0.08619	N	0.918683	T	0.55721	0.1938	L	0.43554	1.36	0.32934	D	0.517549	P	0.38677	0.642	P	0.51550	0.673	T	0.54091	-0.8345	10	0.34782	T	0.22	-13.8286	12.7452	0.57278	0.0:0.8337:0.1663:0.0	.	427	Q8N427	TXND3_HUMAN	S	427	ENSP00000199447:P427S;ENSP00000397063:P427S	ENSP00000199447:P427S	P	+	1	0	TXNDC3	37894435	0.562000	0.26586	0.835000	0.33067	0.035000	0.12851	2.365000	0.44196	2.758000	0.94735	0.563000	0.77884	CCG		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		7	465	0	0	0	1	0	7	465					T	37927910	C	T	37927910	3	4	35	1	0	0	0	0	1	0	0	0	16852	739	26	2	1329	2	TXNDC3	7	37927910	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	6192731	37927910	121210753	51	4158											
ZNF479	90827	broad.mit.edu	37	chr7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgagggttgaggataAgctaaaggctttgccacatt	13	6	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				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						c.(1342-1344)Tta>Gta		zinc finger protein 479							47	46	47					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	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.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	827	0	0	0	1	0	8	827					C	57187780	A	C	57187780	3	2	35	1	0	0	0	0	1	0	0	0	17986	69	3	4	236	4	ZNF479	7	57187780	Missense_Mutation	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	19259870	57187780	101950883	52	4159											
ZNF273	10793	broad.mit.edu	37	chr7	64388822	64388822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacaaatgtgaagaatg	9	6	1	4			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000319636.5_Silent_p.K307K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					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.K372K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTGGAGAGAAACCCTACAAAT	0.383																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			2	Substitution - coding silent(2)	p.K372K(2)	prostate(1)|kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1114-1116)aaA>aaG		zinc finger protein 273							50	54	52					7																	64388822		2203	4294	6497	SO:0001819	synonymous_variant	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388822A>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1116A>G	7.37:g.64388822A>G						ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K	p.K372K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1187	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	372					B3KQZ5|Q6P3V4	Silent	SNP	ENST00000476120.1	37	c.1116A>G	CCDS5528.2																																																																																				0.383	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			7	669	0	0	0	1	0	7	669					G	64388822	A	G	64388822	2	3	35	1	0	0	0	0	0	0	0	1	17861	40	2	4		4	ZNF273	7	64388822	Silent	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	7201042	64388822	94749841	53	4160											
NSUN5	55695	broad.mit.edu	37	chr7	72722532	72722532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtttcgcacaccagcgCgtacagctgcttcacgttct	9	15	2	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:72722532C>T	ENST00000252594.6	-	2	127	c.112G>A	c.(112-114)Gcg>Acg	p.A38T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A38T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A38T|NSUN5_ENST00000428206.1_Missense_Mutation_p.A38T			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	38					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CACACCAGCGCGTACAGCTGC	0.716																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(112-114)Gcg>Acg		NOP2/Sun domain family, member 5							42	44	43					7																	72722532		2203	4295	6498	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72722532C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.112G>A	7.37:g.72722532C>T	ENSP00000252594:p.Ala38Thr					NSUN5_ENST00000252594.6_Missense_Mutation_p.A38T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A38T|NSUN5_ENST00000310326.8_Missense_Mutation_p.A38T	p.A38T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			2	125	-		Lung NSC(55;0.163)	38					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.112G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464475	0.63513	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.25749	1.79;1.78;1.91;1.9	4.08	4.08	0.47627	.	0.058059	0.64402	D	0.000002	T	0.59266	0.2181	M	0.91561	3.22	0.49389	D	0.99978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.999	T	0.71461	-0.4586	10	0.87932	D	0	.	15.5136	0.75806	0.0:1.0:0.0:0.0	.	38;38;38;38	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	T	38	ENSP00000393081:A38T;ENSP00000252594:A38T;ENSP00000388464:A38T;ENSP00000309126:A38T	ENSP00000252594:A38T	A	-	1	0	NSUN5	72360468	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.141000	0.71744	2.107000	0.64212	0.485000	0.47835	GCG		0.716	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		19	486	0	0	0	1	0	19	486					T	72722532	C	T	72722532	3	4	35	1	0	0	0	0	1	0	0	0	10723	768	27	1	1345	1	NSUN5	7	72722532	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	8333710	72722532	86416131	54	4161											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		7	1363						7	1363	---	---	---	---	-	99771554	C	-	99771554	7	5	35	1	0	1	0	1	0	0	0	0	6627	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-3A-A9IV-01A-11D-A40W-08	27049022	99771554	59367109	55	4162											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	455						7	455	---	---	---	---	-	100028825	CCA	-	100028823	7	5	35	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-3A-A9IV-01A-11D-A40W-08	257269	100028823	59109840	56	4163											
FLJ36031	168455	broad.mit.edu	37	chr7	106300652	106300652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcatgcccggggcaccgGgaagcggcggagcctcacca	14	16	2	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:106300652G>A	ENST00000523505.1	-	1	790	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S		NM_175884.4	NP_787080.2	Q8N9Z2	CC71L_HUMAN	coiled-coil domain containing 71-like	231										endometrium(1)	1						CGGGGCACCGGGAAGCGGCGG	0.726											OREG0018261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523505.1																			0				endometrium(1)	1						c.(691-693)Ccg>Tcg		coiled-coil domain containing 71-like							7	9	9					7																	106300652		1671	3662	5333	SO:0001583	missense	168455							g.chr7:106300652G>A		CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276			26685	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 74"	C7orf74		12477932	Standard	NM_175884		Approved	FLJ36031	uc003vdt.3	Q8N9Z2	OTTHUMG00000164150	ENST00000523505.1:c.691C>T	7.37:g.106300652G>A	ENSP00000430897:p.Pro231Ser		OREG0018261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1396		p.P231S	NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN			1	790	-			231					Q7Z756	Missense_Mutation	SNP	ENST00000523505.1	37	c.691C>T	CCDS55151.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640381	0.47153	.	.	ENSG00000253276	ENST00000523505	.	.	.	3.85	3.85	0.44370	.	1.088530	0.07092	N	0.838838	T	0.46425	0.1392	N	0.19112	0.55	0.35403	D	0.791752	D	0.67145	0.996	P	0.53689	0.732	T	0.42932	-0.9422	9	0.31617	T	0.26	.	11.7017	0.51575	0.0:0.0:0.8224:0.1776	.	231	Q8N9Z2	CG074_HUMAN	S	231	.	ENSP00000430897:P231S	P	-	1	0	C7orf74	106087888	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.392000	0.52537	1.988000	0.58038	0.505000	0.49811	CCG		0.726	CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	NM_175884		31	42	0	0	0	1	0	31	42					A	106300652	G	A	106300652	3	1	35	1	0	0	0	0	1	0	0	0	5953	1232	43	2	20	2	FLJ36031	7	106300652	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	6271829	106300652	52838011	57	4164											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	978						7	978	---	---	---	---	-	142562309	G	-	142562309	7	5	35	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-3A-A9IV-01A-11D-A40W-08	36261657	142562309	16576354	58	4165											
MSR1	4481	broad.mit.edu	37	chr8	15967629	15967629	+	Missense_Mutation	SNP	G	G	A													gactccagcatcttcagaatGtgaacaggctcttgtccccc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:15967629G>A	ENST00000262101.5	-	10	1442	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y	MSR1_ENST00000445506.2_Missense_Mutation_p.H459Y|MSR1_ENST00000350896.3_Missense_Mutation_p.H378Y|MSR1_ENST00000355282.2_Missense_Mutation_p.H378Y			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	441	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		H -> R (found in patients with prostate cancer; dbSNP:rs138749399). {ECO:0000269|PubMed:12244320}.		cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCTTCAGAATGTGAACAGGCT	0.373																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1132-1134)Cat>Tat		macrophage scavenger receptor 1							94	94	94					8																	15967629		2203	4300	6503	SO:0001583	missense	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967629G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1321C>T	8.37:g.15967629G>A	ENSP00000262101:p.His441Tyr					MSR1_ENST00000262101.5_Missense_Mutation_p.H441Y|MSR1_ENST00000445506.2_Missense_Mutation_p.H459Y|MSR1_ENST00000355282.2_Missense_Mutation_p.H378Y	p.H378Y	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1329	-			441			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1132C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679446	0.88542	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.08	5.08	0.68730	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.49916	D	0.000131	T	0.68952	0.3057	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77579	-0.2535	10	0.87932	D	0	.	14.3614	0.66773	0.0:0.0:1.0:0.0	.	459;378;441	B4DDJ5;P21757-3;P21757	.;.;MSRE_HUMAN	Y	378;441;459;378	ENSP00000262100:H378Y;ENSP00000262101:H441Y;ENSP00000405453:H459Y;ENSP00000347430:H378Y	ENSP00000262101:H441Y	H	-	1	0	MSR1	16012000	1.000000	0.71417	0.461000	0.27105	0.559000	0.35586	5.250000	0.65432	2.515000	0.84797	0.650000	0.86243	CAT		0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	365	0	0	0	1	0	5	365					A	15967629	G	A	15967629	3	1	35	1	0	0	0	0	1	0	0	0	9927	1377	48	2	38	2	MSR1	8	15967629	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		15967629	130396393	59	4166	28	2									
MSR1	4481	broad.mit.edu	37	chr8	15967636	15967636	+	Silent	SNP	G	G	A													gcatcttcagaatgtgaacaGgctcttgtcccccattgccg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr8:15967636G>A	ENST00000262101.5	-	10	1435	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000350896.3_Silent_p.A375A|MSR1_ENST00000355282.2_Silent_p.A375A			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	438	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGAACAGGCTCTTGTCC	0.368																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1123-1125)gcC>gcT		macrophage scavenger receptor 1							96	96	96					8																	15967636		2203	4300	6503	SO:0001819	synonymous_variant	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967636G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1314C>T	8.37:g.15967636G>A						MSR1_ENST00000262101.5_Silent_p.A438A|MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000355282.2_Silent_p.A375A	p.A375A	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1322	-			438			SRCR.		D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.1125C>T	CCDS5995.1																																																																																				0.368	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	361	0	0	0	1	0	5	361					A	15967636	G	A	15967636	2	1	35	1	0	0	0	0	0	0	0	1	9927	987	35	2		2	MSR1	8	15967636	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	7	15967636	130396386	60	4167	28	2									
MLLT3	4300	broad.mit.edu	37	chr9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtggtatgaatactcctatta	10	10	0	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgGTATGAAT	0.493			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16	20	18					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S149T	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	191	0	0	0	1	0	5	191					G	20414398	C	G	20414398	3	3	35	1	0	0	0	0	1	0	0	0	9669	797	28	5	1288	5	MLLT3	9	20414398	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		20414398	120799033	61	4168											
ZCCHC7	84186	broad.mit.edu	37	chr9	37357249	37357250	+	Frame_Shift_Ins	INS	-	-	A													ttatttcttattaagcagagINSaaaaaaaaagtcttaagccg					rs1051465		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:37357249_37357250insA	ENST00000336755.5	+	9	1722_1723	c.1616_1617insA	c.(1615-1620)agaaaafs	p.RK539fs	ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.RK249fs|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAGT	0.411																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1615-1617)aaafs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37357249_37357250insA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1625dupA	9.37:g.37357258_37357258dupA	ENSP00000337839:p.Arg539fs					ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.K249fs|ZCCHC7_ENST00000461038.1_3'UTR	p.K539fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1722_1723	+			539		R -> K (in dbSNP:rs1051465).			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.1616_1617insA	CCDS6608.2																																																																																				0.411	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		11	345						11	345	---	---	---	---	A	37357250	-	A	37357249	7	5	35	1	0	1	1	0	0	0	0	0	17646	942	33	0	1646	0	ZCCHC7	9	37357249	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	16942851	37357249	103856182	62	4169											
ALDH1B1	219	broad.mit.edu	37	chr9	38396889	38396889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggccagaaggagggcGcaaaactcctctgtggcgga	15	10	1	1	rs201132163		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:38396889G>A	ENST00000377698.3	+	2	1297	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	382					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GAAGGAGGGCGCAAAACTCCT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19051	0.0		0.0	False		,,,				2504	0.001					ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1144-1146)Gca>Aca		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						85	74	77					9																	38396889		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396889G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1144G>A	9.37:g.38396889G>A	ENSP00000366927:p.Ala382Thr						p.A382T	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1297	+			382					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1144G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139056	0.77775	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	D	0.81579	-1.51	5.8	4.9	0.64082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	D	0.90830	0.7120	M	0.93062	3.375	0.53005	D	0.999964	D	0.76494	0.999	D	0.64506	0.926	D	0.92613	0.6101	10	0.87932	D	0	.	12.9589	0.58447	0.0791:0.0:0.9209:0.0	.	382	P30837	AL1B1_HUMAN	T	382;83	ENSP00000366927:A382T	ENSP00000366927:A382T	A	+	1	0	ALDH1B1	38386889	1.000000	0.71417	0.320000	0.25306	0.698000	0.40448	6.414000	0.73318	1.440000	0.47531	0.650000	0.86243	GCA		0.567	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			5	443	0	0	0	1	0	5	443					A	38396889	G	A	38396889	3	1	35	1	0	0	0	0	1	0	0	0	493	1087	38	1	1146	1	ALDH1B1	9	38396889	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	1039640	38396889	102816542	63	4170											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.34	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		7	520						7	520	---	---	---	---	-	100455964	TTC	-	100455962	7	5	35	1	0	1	0	1	0	0	0	0	17494	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-3A-A9IV-01A-11D-A40W-08	62059073	100455962	40757469	64	4171											
ANKS6	203286	broad.mit.edu	37	chr9	101518807	101518807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgccctttgggtgaggGggagggcgtgagggttggag	23	4	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:101518807G>A	ENST00000353234.4	-	12	2268	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P546S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P742S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P440S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	741	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGGGTGAGGGGGAGGGCGTG	0.562																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2221-2223)Ccc>Tcc		ankyrin repeat and sterile alpha motif domain containing 6							102	107	106					9																	101518807		2020	4170	6190	SO:0001583	missense	203286							g.chr9:101518807G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2221C>T	9.37:g.101518807G>A	ENSP00000297837:p.Pro741Ser					ANKS6_ENST00000540940.1_Missense_Mutation_p.P546S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P742S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P440S	p.P741S			Q68DC2	ANKS6_HUMAN			12	2268	-		Acute lymphoblastic leukemia(62;0.0527)	741			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2221C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.052221|4.052221	0.75960|0.75960	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.71579	.|1.61;-0.51;-0.58;1.87	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.053247|0.053247	0.85682|0.85682	D|N	0.000000|0.000000	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.61703|0.61703	1.905|1.905	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.83301|0.83301	-0.0028|-0.0028	6|10	.|0.59425	.|D	.|0.04	-15.3588|-15.3588	16.5758|16.5758	0.84637|0.84637	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;741	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|S	210|440;742;741;546	.|ENSP00000364159:P440S;ENSP00000364158:P742S;ENSP00000297837:P741S;ENSP00000442189:P546S	.|ENSP00000297837:P741S	P|P	-|-	2|1	0|0	ANKS6|ANKS6	100558628|100558628	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.848000|0.848000	0.48234|0.48234	7.112000|7.112000	0.77086|0.77086	2.529000|2.529000	0.85273|0.85273	0.484000|0.484000	0.47621|0.47621	CCC|CCC		0.562	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		5	381	0	0	0	1	0	5	381					A	101518807	G	A	101518807	3	1	35	1	0	0	0	0	1	0	0	0	692	1232	43	2	410	2	ANKS6	9	101518807	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	1062845	101518807	39694624	65	4172											
INPP5E	56623	broad.mit.edu	37	chr9	139333504	139333508	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-													gggagcagctgtgggcggggGccccggggccctcgctctgc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:139333504_139333508delGCCCC	ENST00000371712.3	-	1	766_770	c.364_368delGGGGC	c.(364-369)ggggccfs	p.GA122fs	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GTGGGCGGGGGCCCCGGGGCCCTCG	0.698																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(364-369)cfs		inositol polyphosphate-5-phosphatase, 72 kDa																																				SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333504_139333508delGCCCC	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.364_368delGGGGC	9.37:g.139333504_139333508delGCCCC	ENSP00000360777:p.Gly122fs						p.GA122fs	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	766_770	-		Myeloproliferative disorder(178;0.0511)	122			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.364_368delGGGGC	CCDS7000.1																																																																																				0.698	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		12	41						12	41	---	---	---	---	-	139333508	GCCCC	-	139333504	7	5	35	1	0	1	0	1	0	0	0	0	7787	1203	42	0	1606	0	INPP5E	9	139333504	Frame_Shift_Del	DEL	GCCCC	TCGA-3A-A9IV-01A-11D-A40W-08	37814697	139333504	1879927	66	4173											
ZMYND19	116225	broad.mit.edu	37	chr9	140481540	140481540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctggaagcccggggccaCgcccccccggtgccgctccc	12	22	0	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr9:140481540C>A	ENST00000298585.2	-	4	464	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	80						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCGGGGCCACGCCCCCCCGG	0.632																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(238-240)Gtg>Ttg		zinc finger, MYND-type containing 19							52	61	58					9																	140481540		2203	4298	6501	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481540C>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.238G>T	9.37:g.140481540C>A	ENSP00000298585:p.Val80Leu					ZMYND19_ENST00000471957.1_5'UTR	p.V80L	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	464	-	all_cancers(76;0.106)		80					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.238G>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889343	0.33348	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.06	-1.58	0.08479	.	0.367148	0.30510	N	0.009466	T	0.32224	0.0822	L	0.29908	0.895	0.26808	N	0.969063	B	0.12630	0.006	B	0.14023	0.01	T	0.29274	-1.0017	9	0.72032	D	0.01	-9.9506	11.331	0.49477	0.0:0.6049:0.0:0.3951	.	80	Q96E35	ZMY19_HUMAN	L	80	.	ENSP00000298585:V80L	V	-	1	0	ZMYND19	139601361	1.000000	0.71417	0.029000	0.17559	0.793000	0.44817	1.220000	0.32491	-0.329000	0.08527	-0.140000	0.14226	GTG		0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		5	465	1	0	0.27861	1	0.27861	5	465					A	140481540	C	A	140481540	3	1	35	1	0	0	0	0	1	0	0	0	17763	536	19	3	457	3	ZMYND19	9	140481540	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	1148036	140481540	731891	67	4174											
LDB3	11155	broad.mit.edu	37	chr10	88459097	88459097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgcgcaactggcaccatgGcctttcagcccaaatcctta	7	14	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:88459097G>C	ENST00000372066.3	+	8	897	c.818G>C	c.(817-819)gGc>gCc	p.G273A	LDB3_ENST00000372056.4_Missense_Mutation_p.G388A|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.G320A|LDB3_ENST00000352360.5_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGCACCATGGCCTTTCAGCC	0.522																																						ENST00000372056.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1162-1164)gGc>gCc		LIM domain binding 3							146	155	152					10																	88459097		1907	4132	6039	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88459097G>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.818G>C	10.37:g.88459097G>C	ENSP00000361136:p.Gly273Ala					LDB3_ENST00000429277.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.G273A|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.G320A|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron	p.G388A	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN			8	1186	+			0						Missense_Mutation	SNP	ENST00000372066.3	37	c.1163G>C	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596129	0.86953	.	.	ENSG00000122367	ENST00000372066;ENST00000372056;ENST00000310944	T;T;T	0.44482	1.05;0.92;1.13	5.23	4.33	0.51752	.	.	.	.	.	T	0.60209	0.2251	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.975;0.937;0.998	T	0.60692	-0.7213	9	0.42905	T	0.14	.	13.8376	0.63419	0.0731:0.0:0.9269:0.0	.	388;320;273	O75112-4;O75112-5;O75112-6	.;.;.	A	273;388;320	ENSP00000361136:G273A;ENSP00000361126:G388A;ENSP00000311913:G320A	ENSP00000311913:G320A	G	+	2	0	LDB3	88449077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.171000	0.77595	1.448000	0.47680	0.561000	0.74099	GGC		0.522	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			372	59	0	0	0	1	0	372	59					C	88459097	G	C	88459097	3	2	35	1	0	0	0	0	1	0	0	0	8728	1203	42	5	1220	5	LDB3	10	88459097	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		88459097	47075650	68	4175											
CYP2C8	1558	broad.mit.edu	37	chr10	96805579	96805579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctacctgtgacctctgGgtgcttcagcaggagcagga	14	11	2	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr10:96805579G>A	ENST00000371270.3	-	6	1043	c.949C>T	c.(949-951)Cca>Tca	p.P317S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P215S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P231S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	317					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGACCTCTGGGTGCTTCAGC	0.458																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(949-951)Cca>Tca		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						174	155	161					10																	96805579		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96805579G>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.949C>T	10.37:g.96805579G>A	ENSP00000360317:p.Pro317Ser					CYP2C8_ENST00000535898.1_Missense_Mutation_p.P215S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P231S	p.P317S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	6	1043	-		Colorectal(252;0.0397)	317					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.949C>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813967	0.70912	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.44482	0.92;0.92;0.92	5.43	3.5	0.40072	.	0.000000	0.85682	U	0.000000	T	0.69663	0.3136	H	0.95114	3.625	0.42258	D	0.992007	D;D;D;D	0.64830	0.98;0.994;0.994;0.984	P;P;P;P	0.60117	0.692;0.869;0.858;0.869	T	0.77953	-0.2394	10	0.87932	D	0	.	12.3008	0.54874	0.0:0.0:0.6901:0.3099	.	231;215;285;317	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	S	317;284;215;231	ENSP00000360317:P317S;ENSP00000445062:P215S;ENSP00000442343:P231S	ENSP00000360317:P317S	P	-	1	0	CYP2C8	96795569	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	5.817000	0.69229	0.605000	0.29947	0.591000	0.81541	CCA		0.458	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		130	241	0	0	0	1	0	130	241					A	96805579	G	A	96805579	3	1	35	1	0	0	0	0	1	0	0	0	4178	1232	43	2	539	2	CYP2C8	10	96805579	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	8346482	96805579	38729168	69	4176											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	14	15	1	0	rs147615662	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	104	104		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	478	0	0	0	1	0	5	478					T	65618619	C	T	65618619	3	4	35	1	0	0	0	0	1	0	0	0	14952	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		65618619	69387897	70	4177											
ACY3	91703	broad.mit.edu	37	chr11	67410228	67410228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggcaggggtcagcgcGggcatggcaggcacggtgaa	20	10	1	1	rs149837610		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:67410228G>A	ENST00000255082.3	-	8	1097	c.927C>T	c.(925-927)ccC>ccT	p.P309P	ACY3_ENST00000529256.1_Silent_p.P188P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	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)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGGTCAGCGCGGGCATGGCAG	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.001				GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(925-927)ccC>ccT		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)	G		0,4400		0,0,2200	110	100	104		927	-7.9	0	11	dbSNP_134	104	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	ACY3	NM_080658.1		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		309/320	67410228	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410228G>A	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.927C>T	11.37:g.67410228G>A						ACY3_ENST00000529256.1_Silent_p.P188P	p.P309P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1097	-			309						Silent	SNP	ENST00000255082.3	37	c.927C>T	CCDS8175.1																																																																																				0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		6	341	0	0	0	1	0	6	341					A	67410228	G	A	67410228	2	1	35	1	0	0	0	0	0	0	0	1	227	1103	39	1		1	ACY3	11	67410228	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	1791609	67410228	67596288	71	4178											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276945	71276945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggctccaaggggggctgTggttcttgtgggggctccaa	20	8	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:71276945T>C	ENST00000398531.1	+	1	337	c.312T>C	c.(310-312)tgT>tgC	p.C104C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	104	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGGGGGGCTGTGGTTCTTGTG	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(310-312)tgT>tgC		keratin associated protein 5-10							38	58	51					11																	71276945		2154	4270	6424	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276945T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.312T>C	11.37:g.71276945T>C						KRTAP5-10_ENST00000376536.4_Intron	p.C104C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	337	+			104			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.312T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			5	236	0	0	0	1	0	5	236					C	71276945	T	C	71276945	2	2	35	1	0	0	0	0	0	0	0	1	8590	1702	59	4		4	KRTAP5-10	11	71276945	Silent	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	3866717	71276945	63729571	72	4179											
ATM	472	broad.mit.edu	37	chr11	108236153	108236153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgtgctcagtgttggtgGacaagtgaatttgctcatac	11	8	2	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:108236153G>T	ENST00000452508.2	+	64	9278	c.9089G>T	c.(9088-9090)gGa>gTa	p.G3030V	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.G3030V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3030	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGTGTTGGTGGACAAGTGAAT	0.433			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(9088-9090)gGa>gTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							143	138	140					11																	108236153		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236153G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9089G>T	11.37:g.108236153G>T	ENSP00000388058:p.Gly3030Val	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G3030V|ATM_ENST00000525178.1_3'UTR	p.G3030V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9474	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3030			FATC.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.9089G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590243	0.66105	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.09	5.09	0.68999	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92468	0.5983	10	0.72032	D	0.01	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	3030	Q13315	ATM_HUMAN	V	3030	ENSP00000278616:G3030V;ENSP00000388058:G3030V	ENSP00000278616:G3030V	G	+	2	0	ATM	107741363	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	9.405000	0.97313	2.657000	0.90304	0.558000	0.71614	GGA		0.433	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		88	126	1	0	3.33908e-46	1	3.63721e-46	88	126					T	108236153	G	T	108236153	3	4	35	1	0	0	0	0	1	0	0	0	1110	1174	41	3	9335	3	ATM	11	108236153	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	36959208	108236153	26770363	73	4180											
IFT46	56912	broad.mit.edu	37	chr11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-													ccagaggggctccatgctctTcatcatcatcatcagaatca							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000264020.2_In_Frame_Del_p.D104del|IFT46_ENST00000530872.1_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	633						7	633	---	---	---	---	-	118427647	TCA	-	118427645	7	5	35	1	0	1	0	1	0	0	0	0	7590	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-3A-A9IV-01A-11D-A40W-08	10191492	118427645	16578871	74	4181											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844810	128844810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatcataggagttacagCggttccccagcatttctcca	8	11	2	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr11:128844810C>T	ENST00000310343.9	-	20	2239	c.2240G>A	c.(2239-2241)cGc>cAc	p.R747H	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R398H|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R673H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R398H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	747					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAGTTACAGCGGTTCCCCAG	0.478																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2239-2241)cGc>cAc		Rho GTPase activating protein 32							74	68	70					11																	128844810		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844810C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2240G>A	11.37:g.128844810C>T	ENSP00000310561:p.Arg747His					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R673H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R398H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R398H	p.R747H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2239	-			747					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2240G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800601	0.50315	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.59	5.59	0.84812	.	0.155298	0.56097	D	0.000025	T	0.42630	0.1211	L	0.42245	1.32	0.43628	D	0.996013	B;D	0.76494	0.061;0.999	B;P	0.60236	0.012;0.871	T	0.15206	-1.0445	10	0.56958	D	0.05	.	19.5855	0.95488	0.0:1.0:0.0:0.0	.	681;747	Q86T64;A7KAX9	.;RHG32_HUMAN	H	747;398;673;681;398	ENSP00000310561:R747H;ENSP00000376425:R398H;ENSP00000432468:R673H;ENSP00000432862:R398H	ENSP00000310561:R747H	R	-	2	0	ARHGAP32	128350020	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.140000	0.64807	2.630000	0.89119	0.650000	0.86243	CGC		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		5	211	0	0	0	1	0	5	211					T	128844810	C	T	128844810	3	4	35	1	0	0	0	0	1	0	0	0	881	768	27	1	4035	1	ARHGAP32	11	128844810	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	10417165	128844810	6161706	75	4182											
KCNA6	3742	broad.mit.edu	37	chr12	4919415	4919415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacacgctgctcggagacCctggccggcgagtccgcttc	14	16	0	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:4919415C>T	ENST00000280684.3	+	1	1074	c.208C>T	c.(208-210)Cct>Tct	p.P70S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.P70S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTCGGAGACCCTGGCCGGCG	0.607										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(208-210)Cct>Tct		potassium voltage-gated channel, shaker-related subfamily, member 6							45	46	46					12																	4919415		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919415C>T	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.208C>T	12.37:g.4919415C>T	ENSP00000280684:p.Pro70Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.P70S	p.P70S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1074	+			70						Missense_Mutation	SNP	ENST00000280684.3	37	c.208C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327646	0.81690	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.239734	0.43416	D	0.000567	D	0.84924	0.5580	M	0.77406	2.37	0.80722	D	1	P	0.50369	0.934	P	0.54499	0.754	D	0.86609	0.1871	10	0.52906	T	0.07	.	16.5124	0.84289	0.0:1.0:0.0:0.0	.	70	P17658	KCNA6_HUMAN	S	70	ENSP00000408321:P70S;ENSP00000280684:P70S	ENSP00000280684:P70S	P	+	1	0	KCNA6	4789676	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.517000	0.81783	2.363000	0.80096	0.462000	0.41574	CCT		0.607	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		204	154	0	0	0	1	0	204	154					T	4919415	C	T	4919415	3	4	35	1	0	0	0	0	1	0	0	0	8037	623	22	2	210	2	KCNA6	12	4919415	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		4919415	128932480	76	4183											
KCNA6	3742	broad.mit.edu	37	chr12	4919970	4919970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcactcagtactcttGggggctccttctttacagac	7	15	4	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:4919970G>C	ENST00000280684.3	+	1	1629	c.763G>C	c.(763-765)Ggg>Cgg	p.G255R	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G255R			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CAGTACTCTTGGGGGCTCCTT	0.552										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(763-765)Ggg>Cgg		potassium voltage-gated channel, shaker-related subfamily, member 6							85	91	89					12																	4919970		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919970G>C	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.763G>C	12.37:g.4919970G>C	ENSP00000280684:p.Gly255Arg	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.G255R	p.G255R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1629	+			255						Missense_Mutation	SNP	ENST00000280684.3	37	c.763G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	2.206	-0.381797	0.04966	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97352	-4.35;-4.35	5.12	5.12	0.69794	.	.	.	.	.	D	0.93969	0.8069	L	0.43152	1.355	0.33127	D	0.542585	B	0.02656	0.0	B	0.06405	0.002	D	0.91581	0.5279	9	0.15952	T	0.53	.	12.6147	0.56569	0.0:0.0:0.835:0.165	.	255	P17658	KCNA6_HUMAN	R	255	ENSP00000408321:G255R;ENSP00000280684:G255R	ENSP00000280684:G255R	G	+	1	0	KCNA6	4790231	.	.	0.959000	0.39883	0.124000	0.20399	.	.	2.664000	0.90586	0.655000	0.94253	GGG		0.552	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		266	173	0	0	0	1	0	266	173					C	4919970	G	C	4919970	3	2	35	1	0	0	0	0	1	0	0	0	8037	1348	47	5	765	5	KCNA6	12	4919970	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	555	4919970	128931925	77	4184											
KLRC4	8302	broad.mit.edu	37	chr12	10561520	10561520	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatatgcttacaaggaataaGaactattgtttttaacacag	6	5	0	1	rs373322943		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:10561520G>A	ENST00000309384.1	-	2	458	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.S84F	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	93					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CAAGGAATAAGAACTATTGTT	0.383																																						ENST00000539300.1																			0											c.(250-252)tCt>tTt									129	132	131					12																	10561520		2203	4300	6503	SO:0001583	missense	0							g.chr12:10561520G>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.277C>T	12.37:g.10561520G>A	ENSP00000310216:p.Leu93Phe					KLRC4_ENST00000309384.1_Missense_Mutation_p.L93F	p.S84F							2	250	-								O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.251C>T	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520486	0.27211	.	.	ENSG00000183542	ENST00000309384	T	0.08634	3.07	3.34	-5.18	0.02840	C-type lectin fold (1);	1.790760	0.02760	N	0.118528	T	0.10165	0.0249	M	0.71581	2.175	0.09310	N	1	P	0.45044	0.849	B	0.43623	0.425	T	0.32640	-0.9899	10	0.25751	T	0.34	.	1.3356	0.02144	0.132:0.1942:0.28:0.3939	.	93	O43908	NKG2F_HUMAN	F	93	ENSP00000310216:L93F	ENSP00000310216:L93F	L	-	1	0	KLRC4	10452787	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-1.352000	0.02194	-0.535000	0.04281	CTT		0.383	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		120	325	0	0	0	1	0	120	325					A	10561520	G	A	10561520	3	1	35	1	0	0	0	0	1	0	0	0	8448	942	33	2	211	2	KLRC4	12	10561520	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	5641550	10561520	123290375	78	4185											
PLCZ1	89869	broad.mit.edu	37	chr12	18841025	18841025	+	Frame_Shift_Del	DEL	T	T	-													ggtatatcaggagctcaccaTtttttttaattacacgagtc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:18841025delT	ENST00000538330.1	-	9	1316	c.935delA	c.(934-936)aatfs	p.N312fs	PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1588-1590)atfs		phospholipase C, zeta 1							85	89	88					12																	18841025		2203	4298	6501	SO:0001589	frameshift_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18841025delT	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.935delA	12.37:g.18841025delT	ENSP00000445880:p.Asn312fs					PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs	p.N530fs			Q86YW0	PLCZ1_HUMAN			13	1852	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		530			C2.			Frame_Shift_Del	DEL	ENST00000538330.1	37	c.1589delA																																																																																					0.294	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		7	509						7	509	---	---	---	---	-	18841025	T	-	18841025	7	5	35	1	0	1	0	1	0	0	0	0	12086	1493	52	0	249	0	PLCZ1	12	18841025	Frame_Shift_Del	DEL	T	TCGA-3A-A9IV-01A-11D-A40W-08	8279505	18841025	115010870	79	4186											
DDN	23109	broad.mit.edu	37	chr12	49392358	49392359	+	Frame_Shift_Ins	INS	-	-	C													gctcggacctcggccaggggINSccccgcccgccagttggtcg					rs376558582		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:49392358_49392359insC	ENST00000421952.2	-	2	321_322	c.300_301insG	c.(298-303)gggcccfs	p.P101fs	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	101						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCGGCCAGGGGCCCCGCCCGCC	0.723																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(298-303)ggccctfs		dendrin																																				SO:0001589	frameshift_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392358_49392359insC	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.301dupG	12.37:g.49392362_49392362dupC	ENSP00000390590:p.Pro101fs					RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	p.GP100fs	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	321_322	-			100						Frame_Shift_Ins	INS	ENST00000421952.2	37	c.300_301insG	CCDS31791.2																																																																																				0.723	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			7	188						7	188	---	---	---	---	C	49392359	-	C	49392358	7	5	35	1	0	1	1	0	0	0	0	0	4344	1203	42	0	1838	0	DDN	12	49392358	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	30551333	49392358	84459537	80	4187											
PLXNC1	10154	broad.mit.edu	37	chr12	94658979	94658980	+	Frame_Shift_Ins	INS	-	-	G													gaagactggctgttgtggcaINSggttccggaattcagtactg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:94658979_94658980insG	ENST00000258526.4	+	21	3824_3825	c.3575_3576insG	c.(3574-3579)caggttfs	p.V1193fs	PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.V240fs|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1193					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGTTGTGGCAGGTTCCGGAAT	0.465																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3574-3576)cgtfs		plexin C1																																				SO:0001589	frameshift_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658979_94658980insG	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3577dupG	12.37:g.94658981_94658981dupG	ENSP00000258526:p.Val1193fs					PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.R239fs	p.R1192fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			21	3824_3825	+			1192					Q59H25	Frame_Shift_Ins	INS	ENST00000258526.4	37	c.3575_3576insG	CCDS9049.1																																																																																				0.465	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			9	1840						9	1840	---	---	---	---	G	94658980	-	G	94658979	7	5	35	1	0	1	1	0	0	0	0	0	12168	188	7	0	3657	0	PLXNC1	12	94658979	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	45266621	94658979	39192916	81	4188											
RILPL1	353116	broad.mit.edu	37	chr12	123983260	123983260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccaccaccgtgaccCggtgccgaaggtcatggttg	14	14	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:123983260C>T	ENST00000376874.4	-	4	867	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RILPL1_ENST00000340724.6_Missense_Mutation_p.R59Q	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	211					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CACCGTGACCCGGTGCCGAAG	0.602																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(631-633)cGg>cAg		Rab interacting lysosomal protein-like 1							98	99	98					12																	123983260		2010	4180	6190	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983260C>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.632G>A	12.37:g.123983260C>T	ENSP00000366070:p.Arg211Gln					RILPL1_ENST00000340724.6_Missense_Mutation_p.R59Q	p.R211Q	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	4	867	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		211					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.632G>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884290	0.91814	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.52754	1.25;0.65	5.23	5.23	0.72850	.	0.142257	0.47852	D	0.000212	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	P;P;D	0.67145	0.948;0.913;0.996	B;B;P	0.54100	0.322;0.227;0.742	T	0.56232	-0.8013	10	0.26408	T	0.33	-7.536	19.184	0.93635	0.0:1.0:0.0:0.0	.	187;211;60	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	Q	211;59	ENSP00000366070:R211Q;ENSP00000345874:R59Q	ENSP00000345874:R59Q	R	-	2	0	RILPL1	122549213	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	4.271000	0.58902	2.614000	0.88457	0.561000	0.74099	CGG		0.602	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		71	747	0	0	0	1	0	71	747					T	123983260	C	T	123983260	3	4	35	1	0	0	0	0	1	0	0	0	13411	652	23	1	595	1	RILPL1	12	123983260	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	29324281	123983260	9868635	82	4189											
GOLGA3	2802	broad.mit.edu	37	chr12	133353221	133353221	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcacacacaggtaccTgcagcagctgctgtagccct	10	16	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr12:133353221T>C	ENST00000450791.2	-	20	4160	c.3977A>G	c.(3976-3978)cAg>cGg	p.Q1326R	GOLGA3_ENST00000204726.3_Splice_Site_p.Q1326R|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326R			Q08378	GOGA3_HUMAN	golgin A3	1326	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CACAGGTACCTGCAGCAGCTG	0.607																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e21+1		golgin A3							72	66	68					12																	133353221		2203	4300	6503	SO:0001630	splice_region_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353221T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3978+1A>G	12.37:g.133353221T>C						GOLGA3_ENST00000450791.2_Splice_Site_p.Q1326_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326_splice	p.Q1326_splice	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4535	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1326			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Splice_Site	SNP	ENST00000450791.2	37	c.3978_splice	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726933	0.69074	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78707	-1.2;-1.2;1.61	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.986;0.995	D	0.87625	0.2512	10	0.62326	D	0.03	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	1326;1326	Q08378-2;Q08378	.;GOGA3_HUMAN	R	1326	ENSP00000204726:Q1326R;ENSP00000410378:Q1326R;ENSP00000409303:Q1326R	ENSP00000204726:Q1326R	Q	-	2	0	GOLGA3	131863294	1.000000	0.71417	0.998000	0.56505	0.199000	0.23934	7.566000	0.82347	2.225000	0.72522	0.528000	0.53228	CAG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	Missense_Mutation	7	462	0	0	0	1	0	7	462					C	133353221	T	C	133353221	5	2	35	1	0	0	0	0	0	0	1	0	6583	1594	55	4	535	4	GOLGA3	12	133353221	Splice_Site	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	9369961	133353221	498674	83	4190											
ELF1	1997	broad.mit.edu	37	chr13	41532986	41532988	+	In_Frame_Del	DEL	TCA	TCA	-													acgcacctgtaagggtgatgTcatcatcatcatcgtctatg					rs375076980		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:41532986_41532988delTCA	ENST00000239882.3	-	3	551_553	c.237_239delTGA	c.(235-240)gatgac>gac	p.79_80DD>D	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_In_Frame_Del_p.79_80DD>D	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	79	Poly-Asp.				cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AAGGGTGATGTCATCATCATCAT	0.483																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(235-240)gac>ga		E74-like factor 1 (ets domain transcription factor)																																				SO:0001651	inframe_deletion	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41532986_41532988delTCA	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.237_239delTGA	13.37:g.41532995_41532997delTCA	ENSP00000239882:p.Asp80del					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_In_Frame_Del_p.DD79del	p.DD79del	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	3	551_553	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	79			Poly-Asp.		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	In_Frame_Del	DEL	ENST00000239882.3	37	c.237_239delTGA	CCDS9374.1																																																																																				0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		7	647						7	647	---	---	---	---	-	41532988	TCA	-	41532986	7	5	35	1	0	1	0	1	0	0	0	0	5071	1667	58	0	1648	0	ELF1	13	41532986	In_Frame_Del	DEL	TCA	TCGA-3A-A9IV-01A-11D-A40W-08		41532986	73636892	84	4191											
CAB39L	81617	broad.mit.edu	37	chr13	49951138	49951138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtcagctatcagtgTcactagcaggccactgctgt	11	12	3	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:49951138T>C	ENST00000355854.4	-	3	738	c.241A>G	c.(241-243)Aca>Gca	p.T81A	CAB39L_ENST00000347776.5_Missense_Mutation_p.T81A|CAB39L_ENST00000409308.1_Missense_Mutation_p.T81A|CAB39L_ENST00000410043.1_Missense_Mutation_p.T81A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	81					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|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;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GCTATCAGTGTCACTAGCAGG	0.433																																						ENST00000355854.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(241-243)Aca>Gca		calcium binding protein 39-like							113	107	109					13																	49951138		2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49951138T>C	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.241A>G	13.37:g.49951138T>C	ENSP00000348113:p.Thr81Ala					CAB39L_ENST00000410043.1_Missense_Mutation_p.T81A|CAB39L_ENST00000347776.5_Missense_Mutation_p.T81A|CAB39L_ENST00000409308.1_Missense_Mutation_p.T81A	p.T81A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	3	738	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	81					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.241A>G	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	T	7.778	0.708844	0.15239	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.107271	0.64402	D	0.000005	T	0.23611	0.0571	L	0.31804	0.96	0.51012	D	0.999906	B	0.02656	0.0	B	0.04013	0.001	T	0.05146	-1.0903	9	.	.	.	-16.4498	14.8412	0.70226	0.0:0.0:0.0:1.0	.	81	Q9H9S4	CB39L_HUMAN	A	81;81;78;81;44;81;81;81;81	ENSP00000348113:T81A;ENSP00000261669:T81A;ENSP00000386375:T81A;ENSP00000416719:T44A;ENSP00000386328:T81A;ENSP00000409253:T81A;ENSP00000404028:T81A;ENSP00000386979:T81A	.	T	-	1	0	CAB39L	48849139	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.571000	0.36450	2.098000	0.63641	0.528000	0.53228	ACA		0.433	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		210	367	0	0	0	1	0	210	367					C	49951138	T	C	49951138	3	2	35	1	0	0	0	0	1	0	0	0	2533	1667	58	4	800	4	CAB39L	13	49951138	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	8418152	49951138	65218740	85	4192											
KLF12	11278	broad.mit.edu	37	chr13	74387392	74387392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactgtcacttttactttGtctgggagataggcctcggg	11	9	3	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:74387392G>T	ENST00000377669.2	-	4	729	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	KLF12_ENST00000377666.4_Missense_Mutation_p.Q235K|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CTTTTACTTTGTCTGGGAGAT	0.443																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(703-705)Caa>Aaa		Kruppel-like factor 12							215	190	199					13																	74387392		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74387392G>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.703C>A	13.37:g.74387392G>T	ENSP00000366897:p.Gln235Lys					KLF12_ENST00000377666.4_Missense_Mutation_p.Q235K|KLF12_ENST00000472022.1_5'UTR	p.Q235K	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	729	-		Prostate(6;0.00217)|Breast(118;0.0838)	235					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.703C>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346256	0.61073	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01455	4.87;4.87	5.47	4.57	0.56435	.	0.061213	0.64402	D	0.000001	T	0.01523	0.0049	N	0.19112	0.55	0.51767	D	0.999938	B	0.17038	0.02	B	0.14578	0.011	T	0.54754	-0.8246	10	0.08179	T	0.78	.	15.1641	0.72807	0.0:0.1413:0.8587:0.0	.	235	Q9Y4X4	KLF12_HUMAN	K	235	ENSP00000366897:Q235K;ENSP00000366894:Q235K	ENSP00000344057:Q235K	Q	-	1	0	KLF12	73285393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.510000	0.81708	2.721000	0.93114	0.655000	0.94253	CAA		0.443	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		261	361	1	0	4.44338e-121	1	5.08212e-121	261	361					T	74387392	G	T	74387392	3	4	35	1	0	0	0	0	1	0	0	0	8370	1386	48	3	521	3	KLF12	13	74387392	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	24436254	74387392	40782486	86	4193											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	515						8	515	---	---	---	---	-	88329796	CGG	-	88329794	7	5	35	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-3A-A9IV-01A-11D-A40W-08	13942402	88329794	26840084	87	4194											
GPR180	160897	broad.mit.edu	37	chr13	95264579	95264579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagatatcccatttgAaatggtgttactaaacccag	10	7	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr13:95264579A>G	ENST00000376958.4	+	3	465	c.440A>G	c.(439-441)gAa>gGa	p.E147G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	147					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCCCATTTGAAATGGTGTTA	0.393																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(439-441)gAa>gGa		G protein-coupled receptor 180							139	128	132					13																	95264579		2203	4300	6503	SO:0001583	missense	160897					integral to membrane		g.chr13:95264579A>G	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.440A>G	13.37:g.95264579A>G	ENSP00000366157:p.Glu147Gly						p.E147G	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			3	465	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		147					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.440A>G	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546941	0.86022	.	.	ENSG00000152749	ENST00000376958	T	0.50277	0.75	5.28	5.28	0.74379	Rhodopsin-like GPCR transmembrane domain (1);	0.159074	0.56097	D	0.000028	T	0.56992	0.2023	L	0.57536	1.79	0.52501	D	0.999952	D	0.57257	0.979	P	0.54759	0.76	T	0.53662	-0.8407	10	0.26408	T	0.33	-0.1349	15.5031	0.75716	1.0:0.0:0.0:0.0	.	147	Q86V85	GP180_HUMAN	G	147	ENSP00000366157:E147G	ENSP00000366157:E147G	E	+	2	0	GPR180	94062580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.120000	0.65058	0.528000	0.53228	GAA		0.393	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		11	550	0	0	0	1	0	11	550					G	95264579	A	G	95264579	3	3	35	1	0	0	0	0	1	0	0	0	6705	246	9	4	450	4	GPR180	13	95264579	Missense_Mutation	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	6934785	95264579	19905299	88	4195											
METT11D1	64745	broad.mit.edu	37	chr14	21464862	21464862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcacagcccgccgGcacggcaggtatggggggtg	18	12	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1255-1257)cgG>cgA		methyltransferase like 17							88	85	86					14																	21464862		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464862G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A						METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	p.R419R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1490	+			419					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.1257G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		5	577	0	0	0	1	0	5	577					A	21464862	G	A	21464862	2	1	35	1	0	0	0	0	0	0	0	1	9532	1190	42	2		2	METT11D1	14	21464862	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		21464862	85884678	89	4196											
FOXG1	2290	broad.mit.edu	37	chr14	29237840	29237840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccccctcgaccctgcCctgtgagtctttaagaccct	9	17	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:29237840C>T	ENST00000313071.4	+	1	1554	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	FOXG1_ENST00000382535.3_Missense_Mutation_p.P452L	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	452					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCGACCCTGCCCTGTGAGTCT	0.592																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1354-1356)cCc>cTc		forkhead box G1							68	67	68					14																	29237840		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237840C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1355C>T	14.37:g.29237840C>T	ENSP00000339004:p.Pro452Leu					FOXG1_ENST00000313071.4_Missense_Mutation_p.P452L	p.P452L			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1724	+			452					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1355C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525191	0.27299	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.92911	-3.13;-3.13	4.14	4.14	0.48551	.	0.155416	0.45126	U	0.000397	D	0.84447	0.5474	N	0.19112	0.55	0.53688	D	0.999975	B	0.11235	0.004	B	0.11329	0.006	T	0.79212	-0.1896	10	0.07482	T	0.82	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	452	P55316	FOXG1_HUMAN	L	452	ENSP00000371975:P452L;ENSP00000339004:P452L	ENSP00000339004:P452L	P	+	2	0	FOXG1	28307591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.423000	0.59861	2.006000	0.58801	0.491000	0.48974	CCC		0.592	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			97	406	0	0	0	1	0	97	406					T	29237840	C	T	29237840	3	4	35	1	0	0	0	0	1	0	0	0	6034	623	22	2	1357	2	FOXG1	14	29237840	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	7772978	29237840	78111700	90	4197											
MGAT2	4247	broad.mit.edu	37	chr14	50088327	50088327	+	Frame_Shift_Del	DEL	C	C	-													agataaggctggcacctgggCcccccgggagctggtgctgg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:50088327delC	ENST00000305386.2	+	1	839	c.341delC	c.(340-342)gccfs	p.A114fs	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	114					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGCACCTGGGCCCCCCGGGAG	0.602																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(340-342)gcfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							63	76	72					14																	50088327		2203	4299	6502	SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088327delC	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.341delC	14.37:g.50088327delC	ENSP00000307423:p.Ala114fs					RP11-649E7.5_ENST00000555043.1_RNA	p.A114fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	839	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		114					B3KPC5|B3KQM0	Frame_Shift_Del	DEL	ENST00000305386.2	37	c.341delC	CCDS9690.1																																																																																				0.602	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	1182						7	1182	---	---	---	---	-	50088327	C	-	50088327	7	5	35	1	0	1	0	1	0	0	0	0	9584	739	26	0	343	0	MGAT2	14	50088327	Frame_Shift_Del	DEL	C	TCGA-3A-A9IV-01A-11D-A40W-08	20850487	50088327	57261213	91	4198											
SYNE2	23224	broad.mit.edu	37	chr14	64519024	64519024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggttcctagccttacaaCctatgagggcagtgatttaa	9	8	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:64519024C>T	ENST00000344113.4	+	48	8605	c.8393C>T	c.(8392-8394)aCc>aTc	p.T2798I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.T2798I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2831I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2798					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCCTTACAACCTATGAGGGC	0.398																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8392-8394)aCc>aTc		spectrin repeat containing, nuclear envelope 2							101	94	96					14																	64519024		1902	4114	6016	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519024C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8393C>T	14.37:g.64519024C>T	ENSP00000341781:p.Thr2798Ile					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2798I|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2831I	p.T2798I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8623	+			2798					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8393C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	2.839	-0.240834	0.05944	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34072	1.38;1.38;1.38	5.27	2.12	0.27331	.	1.085380	0.07222	N	0.860997	T	0.20618	0.0496	N	0.08118	0	0.09310	N	0.999999	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.24368	-1.0162	10	0.37606	T	0.19	.	8.5814	0.33630	0.3134:0.6075:0.0:0.0791	.	2798;2798	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	2798;2798;2831;2831	ENSP00000350719:T2798I;ENSP00000341781:T2798I;ENSP00000452570:T2831I	ENSP00000261678:T2831I	T	+	2	0	SYNE2	63588777	0.000000	0.05858	0.000000	0.03702	0.632000	0.37999	0.671000	0.25172	0.607000	0.29982	0.313000	0.20887	ACC		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		257	301	0	0	0	1	0	257	301					T	64519024	C	T	64519024	3	4	35	1	0	0	0	0	1	0	0	0	15498	507	18	2	8579	2	SYNE2	14	64519024	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	14430697	64519024	42830516	92	4199											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-													atcgatgtacttttccttaaTcttcttcttcttcttcttgt					rs55793809	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	340						7	340	---	---	---	---	-	102551163	TCT	-	102551161	7	5	35	1	0	1	0	1	0	0	0	0	7431	1435	50	0	1388	0	HSP90AA1	14	102551161	In_Frame_Del	DEL	TCT	TCGA-3A-A9IV-01A-11D-A40W-08	38032137	102551161	4798379	93	4200											
THBS1	7057	broad.mit.edu	37	chr15	39882017	39882017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccctcaggtgtgcaagccCcgtaacccctgcacggatgg	11	15	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:39882017C>T	ENST00000260356.5	+	13	2103	c.1938C>T	c.(1936-1938)ccC>ccT	p.P646P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	646	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P646P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGTGCAAGCCCCGTAACCCCT	0.537																																						ENST00000260356.5																			1	Substitution - coding silent(1)	p.P646P(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1936-1938)ccC>ccT		thrombospondin 1	Becaplermin(DB00102)						85	75	79					15																	39882017		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39882017C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1938C>T	15.37:g.39882017C>T							p.P646P	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	13	2103	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	646			EGF-like 3.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1938C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327471	0.24080	.	.	ENSG00000137801	ENST00000397593	.	.	.	5.84	-2.52	0.06346	.	0.000000	0.35772	N	0.002991	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	6	0.87932	D	0	-20.5852	1.2066	0.01896	0.3021:0.2863:0.0869:0.3247	.	.	.	.	L	80	.	ENSP00000380721:P80L	P	+	2	0	THBS1	37669309	0.208000	0.23494	0.995000	0.50966	0.972000	0.66771	-0.415000	0.07106	-0.133000	0.11537	-0.137000	0.14449	CCC		0.537	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		41	81	0	0	0	1	0	41	81					T	39882017	C	T	39882017	2	4	35	1	0	0	0	0	0	0	0	1	15905	610	22	2		2	THBS1	15	39882017	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08		39882017	62649375	94	4201											
MYO5A	4644	broad.mit.edu	37	chr15	52643597	52643597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggggcggtcacctctgGggcacttttctcactgaggg	14	12	3	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:52643597G>A	ENST00000399231.3	-	28	3946	c.3703C>T	c.(3703-3705)Cca>Tca	p.P1235S	MYO5A_ENST00000356338.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1235S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1235S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1235					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTCACCTCTGGGGCACTTTTC	0.507																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3703-3705)Cca>Tca		myosin VA (heavy chain 12, myoxin)							155	162	160					15																	52643597		1977	4152	6129	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52643597G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3703C>T	15.37:g.52643597G>A	ENSP00000382177:p.Pro1235Ser					MYO5A_ENST00000553916.1_Missense_Mutation_p.P1235S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1235S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1235S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1235S	p.P1235S	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	28	3946	-			1235					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3703C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	5.766	0.325657	0.10900	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.16597	3.59;2.33;2.33;3.59;2.33;3.59	5.47	5.47	0.80525	.	0.279922	0.39544	N	0.001330	T	0.10208	0.0250	N	0.08118	0	0.45946	D	0.998772	B;B	0.17667	0.006;0.023	B;B	0.10450	0.003;0.005	T	0.19976	-1.0289	10	0.09338	T	0.73	.	19.704	0.96066	0.0:0.0:1.0:0.0	.	1235;1235	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	1235;769;1235;1235;1235;865;1235;28	ENSP00000382177:P1235S;ENSP00000382179:P1235S;ENSP00000348693:P1235S;ENSP00000350945:P1235S;ENSP00000451109:P1235S;ENSP00000382174:P28S	ENSP00000348693:P1235S	P	-	1	0	MYO5A	50430889	1.000000	0.71417	0.997000	0.53966	0.688000	0.40055	3.076000	0.50081	2.726000	0.93360	0.650000	0.86243	CCA		0.507	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		142	283	0	0	0	1	0	142	283					A	52643597	G	A	52643597	3	1	35	1	0	0	0	0	1	0	0	0	10119	1232	43	2	1920	2	MYO5A	15	52643597	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	12761580	52643597	49887795	95	4202											
ZNF609	23060	broad.mit.edu	37	chr15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A													aggacaagaaaaagaaagacINSaaaaaaaagaaggaatcttc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.49	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	638						7	638	---	---	---	---	A	64967247	-	A	64967246	7	5	35	1	0	1	1	0	0	0	0	0	18088	477	17	0	2207	0	ZNF609	15	64967246	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	12323649	64967246	37564146	96	4203											
PIAS1	8554	broad.mit.edu	37	chr15	68379085	68379089	+	Splice_Site	DEL	CTAGG	CTAGG	-													aactgataaaacccaccagtCtaggtaagattattgtatga							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:68379085_68379089delCTAGG	ENST00000249636.6	+	2	614_617	c.466_469delCTAGG	c.(466-471)ctaggc>gc	p.LG156fs	PIAS1_ENST00000545237.1_Splice_Site_p.LG158fs	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	156	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACCCACCAGTCTAGGTAAGATTATT	0.327																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.e3+1		protein inhibitor of activated STAT, 1																																				SO:0001630	splice_region_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68379085_68379089delCTAGG	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.469+1CTAGG>-	15.37:g.68379085_68379089delCTAGG						PIAS1_ENST00000249636.6_Splice_Site_p.156_splice	p.158_splice			O75925	PIAS1_HUMAN			3	1213_1216	+			156			PINIT.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Splice_Site	DEL	ENST00000249636.6	37	c.475_splice	CCDS45290.1																																																																																				0.327	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		Frame_Shift_Del	62	23						62	23	---	---	---	---	-	68379089	CTAGG	-	68379085	8	5	35	1	0	1	0	1	0	0	1	0	11917	912	32	0	472	0	PIAS1	15	68379085	Splice_Site	DEL	CTAGG	TCGA-3A-A9IV-01A-11D-A40W-08	3411839	68379085	34152307	97	4204											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368296	74368296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggtctgctgtaaccaccGctggaggaccgcttctctgc	11	13	2	0	rs542174200	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:74368296G>A	ENST00000290438.3	-	8	635	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	199						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGTAACCACCGCTGGAGGACC	0.572													a|||	5	0.000998403	0.0	0.0	5008	,	,		25968	0.0		0.005	False		,,,				2504	0.0					ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(595-597)Cgg>Tgg		golgin A6 family, member A							83	100	94					15																	74368296		2129	4267	6396	SO:0001583	missense	342096							g.chr15:74368296G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.595C>T	15.37:g.74368296G>A	ENSP00000290438:p.Arg199Trp						p.R199W	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	635	-			199					A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.595C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	g	4.080	0.012757	0.07912	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	1.51	-3.03	0.05429	.	.	.	.	.	T	0.14141	0.0342	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	9	0.29301	T	0.29	.	7.8951	0.29702	0.3992:0.0:0.6008:0.0	.	199	Q9NYA3	GOG6A_HUMAN	W	199	ENSP00000290438:R199W	ENSP00000290438:R199W	R	-	1	2	GOLGA6A	72155349	0.033000	0.19621	0.000000	0.03702	0.015000	0.08874	0.582000	0.23834	-1.064000	0.03172	-1.713000	0.00713	CGG		0.572	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		9	1037	0	0	0	1	0	9	1037					A	74368296	G	A	74368296	3	1	35	1	0	0	0	0	1	0	0	0	6586	1086	38	1	1530	1	GOLGA6A	15	74368296	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	5989211	74368296	28163096	98	4205											
AKAP13	11214	broad.mit.edu	37	chr15	86266503	86266503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgaaacggaagaagcttGtacgtgatgggagtgtgttt	14	3	0	3	rs376932632		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr15:86266503G>A	ENST00000394518.2	+	26	6792	c.6697G>A	c.(6697-6699)Gta>Ata	p.V2233I	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.V2237I|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.V478I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2233	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAGAAGCTTGTACGTGATGG	0.423																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6697-6699)Gta>Ata		A kinase (PRKA) anchor protein 13							163	132	142					15																	86266503		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86266503G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6697G>A	15.37:g.86266503G>A	ENSP00000378026:p.Val2233Ile					AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.V2237I|AKAP13_ENST00000394510.2_Missense_Mutation_p.V478I	p.V2233I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			26	6792	+			2233			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6697G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422067	0.25639	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.63255	-0.03;-0.03;-0.03	5.83	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.34774	0.0909	N	0.03608	-0.345	0.23966	N	0.996327	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.003	T	0.14671	-1.0464	9	0.07030	T	0.85	.	10.5358	0.45002	0.1624:0.0:0.8376:0.0	.	2213;2233;2237	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	313;2237;2233;2236;2212;478	ENSP00000354718:V2237I;ENSP00000378026:V2233I;ENSP00000378018:V478I	ENSP00000354718:V2237I	V	+	1	0	AKAP13	84067507	0.915000	0.31059	0.674000	0.29902	0.869000	0.49853	1.646000	0.37249	1.468000	0.48064	-0.137000	0.14449	GTA		0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		112	135	0	0	0	1	0	112	135					A	86266503	G	A	86266503	3	1	35	1	0	0	0	0	1	0	0	0	449	1377	48	2	6865	2	AKAP13	15	86266503	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	11898207	86266503	16264889	99	4206											
PPP4C	5531	broad.mit.edu	37	chr16	30096070	30096070	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagttcaacgcagccaatGacattgacatgatctgccgt	8	13	2	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:30096070G>T	ENST00000279387.7	+	8	856	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	PPP4C_ENST00000561610.1_Missense_Mutation_p.D230Y	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	230					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGCAGCCAATGACATTGACAT	0.582																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(688-690)Gac>Tac		protein phosphatase 4, catalytic subunit							171	151	158					16																	30096070		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096070G>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.688G>T	16.37:g.30096070G>T	ENSP00000279387:p.Asp230Tyr					PPP4C_ENST00000561610.1_Missense_Mutation_p.D230Y	p.D230Y	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			8	856	+			230					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.688G>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322143	0.60634	.	.	ENSG00000149923	ENST00000279387	T	0.57107	0.42	5.79	5.79	0.91817	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.042136	0.85682	D	0.000000	T	0.73156	0.3551	H	0.95780	3.72	0.80722	D	1	B	0.26120	0.142	B	0.41813	0.367	T	0.76705	-0.2861	10	0.87932	D	0	-12.7488	12.1867	0.54243	0.079:0.0:0.921:0.0	.	230	P60510	PP4C_HUMAN	Y	230	ENSP00000279387:D230Y	ENSP00000279387:D230Y	D	+	1	0	PPP4C	30003571	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.838000	0.55828	2.746000	0.94184	0.561000	0.74099	GAC		0.582	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		9	526	1	0	0.00829132	1	0.00838293	9	526					T	30096070	G	T	30096070	3	4	35	1	0	0	0	0	1	0	0	0	12449	1290	45	3	714	3	PPP4C	16	30096070	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		30096070	60258683	100	4207											
RRAD	6236	broad.mit.edu	37	chr16	66956180	66956180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacgacaccttcaaacagCgcctggacattgtggtgcaa	10	13	1	0	rs139165037		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:66956180C>A	ENST00000299759.6	-	5	976	c.726G>T	c.(724-726)gcG>gcT	p.A242A	RRAD_ENST00000420652.1_Silent_p.A242A			P55042	RAD_HUMAN	Ras-related associated with diabetes	242					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CTTCAAACAGCGCCTGGACAT	0.622																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(724-726)gcG>gcT		Ras-related associated with diabetes							77	64	68					16																	66956180		2200	4300	6500	SO:0001819	synonymous_variant	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956180C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.726G>T	16.37:g.66956180C>A						RRAD_ENST00000420652.1_Silent_p.A242A	p.A242A			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	976	-		Ovarian(137;0.192)	242					Q96F39	Silent	SNP	ENST00000299759.6	37	c.726G>T	CCDS10824.1																																																																																				0.622	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		163	31	1	0	7.08382e-60	1	7.8566e-60	163	31					A	66956180	C	A	66956180	2	1	35	1	0	0	0	0	0	0	0	1	13721	755	27	3		3	RRAD	16	66956180	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	36860110	66956180	23398573	101	4208											
MBTPS1	8720	broad.mit.edu	37	chr16	84092916	84092916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacactaacctgggcgccGtctcgtttaaaggctgtggc	13	12	1	0	rs139138066		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr16:84092916G>A	ENST00000343411.3	-	21	3317	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	941					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTGGGCGCCGTCTCGTTTAA	0.532																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2821-2823)aCg>aTg		membrane-bound transcription factor peptidase, site 1		G	MET/THR	2,4398	4.2+/-10.8	0,2,2198	77	74	75		2822	5.6	1	16	dbSNP_134	75	0,8600		0,0,4300	no	missense	MBTPS1	NM_003791.2	81	0,2,6498	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	941/1053	84092916	2,12998	2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84092916G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2822C>T	16.37:g.84092916G>A	ENSP00000344223:p.Thr941Met						p.T941M	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			21	3317	-			941					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2822C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894132	0.91889	4.55E-4	0.0	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.24151	1.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.50333	1.59	0.80722	D	1	D	0.61697	0.99	P	0.45099	0.469	T	0.09552	-1.0669	10	0.72032	D	0.01	-21.5278	19.5469	0.95302	0.0:0.0:1.0:0.0	.	941	Q14703	MBTP1_HUMAN	M	941;386	ENSP00000344223:T941M	ENSP00000344223:T941M	T	-	2	0	MBTPS1	82650417	1.000000	0.71417	0.988000	0.46212	0.809000	0.45718	9.855000	0.99526	2.619000	0.88677	0.561000	0.74099	ACG		0.532	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		5	253	0	0	0	1	0	5	253					A	84092916	G	A	84092916	3	1	35	1	0	0	0	0	1	0	0	0	9402	1145	40	1	348	1	MBTPS1	16	84092916	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	17136736	84092916	6261837	102	4209											
SPATA22	84690	broad.mit.edu	37	chr17	3370783	3370783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatacctgaatcatctttaaGtggattagaagttaatggct	9	5	2	2	rs145051415		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:3370783G>T	ENST00000573128.1	-	3	592	c.109C>A	c.(109-111)Ctt>Att	p.L37I	SPATA22_ENST00000541913.1_Missense_Mutation_p.L37I|SPATA22_ENST00000268981.5_Missense_Mutation_p.L37I|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.L37I|SPATA22_ENST00000575375.1_Missense_Mutation_p.L37I|SPATA22_ENST00000572969.1_Missense_Mutation_p.L37I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	37					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATCTTTAAGTGGATTAGAA	0.328																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(109-111)Ctt>Att		spermatogenesis associated 22							111	114	113					17																	3370783		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3370783G>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.109C>A	17.37:g.3370783G>T	ENSP00000459580:p.Leu37Ile					SPATA22_ENST00000268981.5_Missense_Mutation_p.L37I|SPATA22_ENST00000397168.3_Missense_Mutation_p.L37I|SPATA22_ENST00000572969.1_Missense_Mutation_p.L37I|SPATA22_ENST00000575375.1_Missense_Mutation_p.L37I|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.L37I	p.L37I			Q8NHS9	SPT22_HUMAN			3	592	-			37					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.109C>A	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	14.86	2.662846	0.47572	.	.	ENSG00000141255	ENST00000397168;ENST00000268981;ENST00000541913	T;T;T	0.23348	2.03;1.91;2.01	4.88	3.91	0.45181	.	0.513806	0.17414	N	0.175096	T	0.31544	0.0800	L	0.29908	0.895	0.28282	N	0.92396	P;D;P	0.59357	0.93;0.985;0.93	P;P;P	0.56823	0.71;0.807;0.71	T	0.07309	-1.0779	10	0.56958	D	0.05	-15.853	11.3745	0.49719	0.0861:0.0:0.9139:0.0	.	37;37;37	F5GWB9;B4DXB1;Q8NHS9	.;.;SPT22_HUMAN	I	37	ENSP00000380354:L37I;ENSP00000268981:L37I;ENSP00000441920:L37I	ENSP00000268981:L37I	L	-	1	0	SPATA22	3317533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.161000	0.42358	1.376000	0.46267	0.563000	0.77884	CTT		0.328	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		141	458	1	0	3.7336e-74	1	4.21758e-74	141	458					T	3370783	G	T	3370783	3	4	35	1	0	0	0	0	1	0	0	0	15060	1029	36	3	1010	3	SPATA22	17	3370783	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		3370783	77824427	103	4210											
PFAS	5198	broad.mit.edu	37	chr17	8157542	8157542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggctgtttggttgcccCttactgctggatgatgttgc	13	8	0	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8157542C>T	ENST00000314666.6	+	3	334	c.201C>T	c.(199-201)ccC>ccT	p.P67P	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	67					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTGGTTGCCCCTTACTGCTGG	0.602																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(199-201)ccC>ccT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						156	122	134					17																	8157542		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8157542C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.201C>T	17.37:g.8157542C>T						PFAS_ENST00000545834.1_5'UTR	p.P67P	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			3	334	+			67					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.201C>T	CCDS11136.1																																																																																				0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			9	460	0	0	0	1	0	9	460					T	8157542	C	T	8157542	2	4	35	1	0	0	0	0	0	0	0	1	11796	668	24	2		2	PFAS	17	8157542	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	4786759	8157542	73037668	104	4211											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg					rs557733194	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		9	772						9	772	---	---	---	---	-	8370273	CTC	-	8370271	7	5	35	1	0	1	0	1	0	0	0	0	10286	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-3A-A9IV-01A-11D-A40W-08	212729	8370271	72824939	105	4212											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	598						7	598	---	---	---	---	-	8415822	TTC	-	8415820	7	5	35	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-3A-A9IV-01A-11D-A40W-08	45549	8415820	72779390	106	4213											
WDR16	146845	broad.mit.edu	37	chr17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-													ttttcttgcttcttcaggtgGatgatgatgatagctttttc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)gatdel	p.D217del	WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(640-642)del		WD repeat domain 16																																				SO:0001651	inframe_deletion	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503387_9503389delGAT	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.640_642delGAT	17.37:g.9503396_9503398delGAT	ENSP00000339449:p.Asp217del					WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del	p.D217del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			6	709_711	+			217						In_Frame_Del	DEL	ENST00000352665.5	37	c.640_642delGAT	CCDS11149.2																																																																																				0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		8	808						8	808	---	---	---	---	-	9503389	GAT	-	9503387	7	5	35	1	0	1	0	1	0	0	0	0	17330	1174	41	0	662	0	WDR16	17	9503387	In_Frame_Del	DEL	GAT	TCGA-3A-A9IV-01A-11D-A40W-08	1087567	9503387	71691823	107	4214											
MYO15A	51168	broad.mit.edu	37	chr17	18023292	18023293	+	Frame_Shift_Ins	INS	-	-	C													ggtggggacgaggccatctaINScccccccgaggtgccctatt							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:18023292_18023293insC	ENST00000205890.5	+	2	1516_1517	c.1178_1179insC	c.(1177-1182)taccccfs	p.YP393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAGG	0.619																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1177-1179)tccfs		myosin XVA				4,3628		0,4,1812						5.4	1			79	3,7851		0,3,3924	no	frameshift	MYO15A	NM_016239.3		0,7,5736	A1A1,A1R,RR		0.0382,0.1101,0.0609				7,11479				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023292_18023293insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1185dupC	17.37:g.18023299_18023299dupC	ENSP00000205890:p.Tyr393fs						p.S393fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1516_1517	+	all_neural(463;0.228)		393			Myosin head-like.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.1178_1179insC	CCDS42271.1																																																																																				0.619	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	872						11	872	---	---	---	---	C	18023293	-	C	18023292	7	5	35	1	0	1	1	0	0	0	0	0	10104	391	14	0	1180	0	MYO15A	17	18023292	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	8519905	18023292	63171918	108	4215											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		9	515						9	515	---	---	---	---	-	18167780	GCT	-	18167778	7	5	35	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-3A-A9IV-01A-11D-A40W-08	144486	18167778	63027432	109	4216											
CCDC55	84081	broad.mit.edu	37	chr17	28505166	28505167	+	Frame_Shift_Ins	INS	-	-	A													gtatttatgatgaaatgcagINSaaaaaaaaggaggaaaataa					rs143842750	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:28505166_28505167insA	ENST00000247026.5	+	4	312_313	c.249_250insA	c.(250-252)aaafs	p.K84fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	84					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(247-252)caaaaafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28505166_28505167insA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.257dupA	17.37:g.28505174_28505174dupA	ENSP00000247026:p.Lys84fs					NSRP1_ENST00000540900.3_3'UTR	p.QK83fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			4	312_313	+			83					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.249_250insA	CCDS11255.1																																																																																				0.332	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		7	534						7	534	---	---	---	---	A	28505167	-	A	28505166	7	5	35	1	0	1	1	0	0	0	0	0	2832	933	33	0	263	0	CCDC55	17	28505166	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	10337388	28505166	52690044	110	4217											
SUZ12	23512	broad.mit.edu	37	chr17	30267331	30267331	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagatctatagatttcttCgaactcggaatctcatagca	6	10	3	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:30267331C>T	ENST00000322652.5	+	2	530	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R101*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	101					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R101*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAGATTTCTTCGAACTCGGAA	0.308			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R101*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(301-303)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							94	87	90					17																	30267331		2203	4294	6497	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30267331C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.301C>T	17.37:g.30267331C>T	ENSP00000316578:p.Arg101*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R101*	p.R101*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			2	530	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	101					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.301C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	.	38	7.100047	0.98063	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.81	4.81	0.61882	.	0.120277	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.743	12.7265	0.57174	0.0:0.9195:0.0:0.0805	.	.	.	.	X	101	.	ENSP00000316578:R101X	R	+	1	2	SUZ12	27291444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.368000	0.66133	2.383000	0.81215	0.597000	0.82753	CGA		0.308	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		6	783	0	0	0	1	0	6	783					T	30267331	C	T	30267331	4	4	35	1	0	0	0	0	0	1	0	0	15468	876	31	1	307	1	SUZ12	17	30267331	Nonsense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	1762165	30267331	50927879	111	4218											
COASY	80347	broad.mit.edu	37	chr17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgttcacctgcagccggGcatgagcctggagggcccgg	15	13	1	1	rs368532520		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					cell death (GO:0008219)|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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(130-132)gGc>gAc		CoA synthase		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,	2,4402		0,2,2200	37	47	44		131,131,218,131,	4.9	1	17		44	0,8592		0,0,4296	no	missense,missense,missense,missense,intron	COASY	NM_001042529.1,NM_001042530.1,NM_001042532.2,NM_025233.5,NM_001042531.1	94,94,94,94,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	44/565,44/565,73/594,44/565,	40714771	2,12994	2202	4296	6498	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714771G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.131G>A	17.37:g.40714771G>A	ENSP00000377406:p.Gly44Asp					COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron	p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	587	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	44					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.131G>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC		0.662	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		7	599	0	0	0	1	0	7	599					A	40714771	G	A	40714771	3	1	35	1	0	0	0	0	1	0	0	0	3661	1203	42	2	224	2	COASY	17	40714771	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	10447440	40714771	40480439	112	4219											
OTOP3	347741	broad.mit.edu	37	chr17	72937715	72937715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccctgaatgtggtgttcCtgggtggcgccttcatctgc	14	11	2	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:72937715C>A	ENST00000328801.4	+	2	301	c.301C>A	c.(301-303)Ctg>Atg	p.L101M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	101						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGTGGTGTTCCTGGGTGGCGC	0.622																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(301-303)Ctg>Atg		otopetrin 3							55	51	52					17																	72937715		2203	4299	6502	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937715C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.301C>A	17.37:g.72937715C>A	ENSP00000328090:p.Leu101Met						p.L101M	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	301	+	all_lung(278;0.151)|Lung NSC(278;0.185)		101						Missense_Mutation	SNP	ENST00000328801.4	37	c.301C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278928	0.59758	.	.	ENSG00000182938	ENST00000328801	T	0.15952	2.38	4.86	4.86	0.63082	.	0.000000	0.52532	D	0.000078	T	0.30978	0.0782	L	0.60455	1.87	0.45216	D	0.998221	D	0.58970	0.984	P	0.60286	0.872	T	0.02444	-1.1158	10	0.72032	D	0.01	-9.5627	8.9408	0.35729	0.0:0.8341:0.0:0.1659	.	101	Q7RTS5	OTOP3_HUMAN	M	101	ENSP00000328090:L101M	ENSP00000328090:L101M	L	+	1	2	OTOP3	70449310	0.995000	0.38212	1.000000	0.80357	0.714000	0.41099	1.522000	0.35921	2.230000	0.72887	0.462000	0.41574	CTG		0.622	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		166	105	1	0	1.07822e-63	1	1.20313e-63	166	105					A	72937715	C	A	72937715	3	1	35	1	0	0	0	0	1	0	0	0	11349	680	24	3	307	3	OTOP3	17	72937715	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	32222944	72937715	8257495	113	4220											
TRIM47	91107	broad.mit.edu	37	chr17	73870863	73870863	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcgagaaggggtggggcaGgggagcctccagcccatgaa	20	9	0	2	rs371497987		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:73870863G>C	ENST00000254816.2	-	6	1644	c.1618C>G	c.(1618-1620)Ctg>Gtg	p.L540V	TRIM47_ENST00000587339.1_Missense_Mutation_p.L302V|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	540	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTGGGGCAGGGGAGCCTCC	0.667																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1618-1620)Ctg>Gtg		tripartite motif containing 47		G	VAL/LEU	1,4405		0,1,2202	39	46	44		1618	4.2	0.9	17		44	0,8600		0,0,4300	no	missense	TRIM47	NM_033452.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	540/639	73870863	1,13005	2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870863G>C	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1618C>G	17.37:g.73870863G>C	ENSP00000254816:p.Leu540Val					TRIM47_ENST00000587339.1_Missense_Mutation_p.L302V	p.L540V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1644	-			540			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1618C>G	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544050	0.45280	2.27E-4	0.0	ENSG00000132481	ENST00000254816	T	0.65732	-0.17	5.18	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000155	T	0.52484	0.1737	L	0.59967	1.855	0.19775	N	0.99996	P	0.39094	0.659	B	0.38921	0.285	T	0.43669	-0.9377	10	0.25751	T	0.34	.	5.2986	0.15766	0.1687:0.0:0.6244:0.2069	.	540	Q96LD4	TRI47_HUMAN	V	540	ENSP00000254816:L540V	ENSP00000254816:L540V	L	-	1	2	TRIM47	71382458	0.996000	0.38824	0.870000	0.34147	0.845000	0.48019	1.542000	0.36137	1.188000	0.43014	0.561000	0.74099	CTG		0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			209	143	0	0	0	1	0	209	143					C	73870863	G	C	73870863	3	2	35	1	0	0	0	0	1	0	0	0	16575	991	35	5	302	5	TRIM47	17	73870863	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	933148	73870863	7324347	114	4221											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967722	76967723	+	Frame_Shift_Ins	INS	-	-	G													cgtgcggaagccgttgaagtINSgccctgccgggcaggggaag							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr17:76967722_76967723insG	ENST00000262776.3	-	6	2001_2002	c.1693_1694insC	c.(1693-1695)cacfs	p.H565fs	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	565					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCCGTTGAAGTGCCCTGCCGGG	0.634											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1693-1695)cttfs		lectin, galactoside-binding, soluble, 3 binding protein																																				SO:0001589	frameshift_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967722_76967723insG	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1694dupC	17.37:g.76967723_76967723dupG	ENSP00000262776:p.His565fs		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.L565fs	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	2001_2002	-			565					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Frame_Shift_Ins	INS	ENST00000262776.3	37	c.1693_1694insC	CCDS11759.1																																																																																				0.634	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		10	291						10	291	---	---	---	---	G	76967723	-	G	76967722	7	5	35	1	0	1	1	0	0	0	0	0	8775	1696	59	0	67	0	LGALS3BP	17	76967722	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	3096859	76967722	4227488	115	4222											
METTL4	64863	broad.mit.edu	37	chr18	2566951	2566951	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatcaaacagttcaggtcGaaaaacaaattttcgtgtga	8	7	2	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr18:2566951G>A	ENST00000574538.1	-	2	1040	c.265C>T	c.(265-267)Cga>Tga	p.R89*	METTL4_ENST00000319888.6_Nonsense_Mutation_p.R89*	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	89					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTTCAGGTCGAAAAACAAAT	0.378																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(265-267)Cga>Tga		methyltransferase like 4							91	85	87					18																	2566951		2203	4300	6503	SO:0001587	stop_gained	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2566951G>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.265C>T	18.37:g.2566951G>A	ENSP00000458290:p.Arg89*					METTL4_ENST00000574538.1_Nonsense_Mutation_p.R89*	p.R89*			Q8N3J2	METL4_HUMAN			2	1063	-			89					B2RNA1|Q2TAA7|Q9H5U9	Nonsense_Mutation	SNP	ENST00000574538.1	37	c.265C>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	43	10.468407	0.99411	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.56	3.74	0.42951	.	0.091405	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3431	12.4112	0.55468	0.0:0.0:0.6938:0.3062	.	.	.	.	X	89	.	ENSP00000320349:R89X	R	-	1	2	METTL4	2556951	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.486000	0.45259	0.778000	0.33520	0.655000	0.94253	CGA		0.378	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		89	358	0	0	0	1	0	89	358					A	2566951	G	A	2566951	4	1	35	1	0	0	0	0	0	1	0	0	9543	1066	37	1	1185	1	METTL4	18	2566951	Nonsense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		2566951	75510297	116	4223											
SIGLEC15	284266	broad.mit.edu	37	chr18	43417042	43417042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggagaacttgctcaacaCagaggtgcacagtaagtgct	11	9	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr18:43417042C>T	ENST00000389474.3	+	2	318	c.101C>T	c.(100-102)aCa>aTa	p.T34I	SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000587418.1_5'Flank	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	34					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ttgctcaacacagaggtgcac	0.438																																						ENST00000389474.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(100-102)aCa>aTa		sialic acid binding Ig-like lectin 15							99	99	99					18																	43417042		2203	4300	6503	SO:0001583	missense	284266					integral to membrane		g.chr18:43417042C>T	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.101C>T	18.37:g.43417042C>T	ENSP00000374125:p.Thr34Ile					SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_5'UTR	p.T34I	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN			2	318	+			34					A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	c.101C>T	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261307	0.23051	.	.	ENSG00000197046	ENST00000389474	T	0.32023	1.47	3.37	3.37	0.38596	.	0.221360	0.24745	N	0.035946	T	0.34308	0.0893	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.02444	-1.1158	10	0.16420	T	0.52	-6.5362	10.5232	0.44931	0.0:1.0:0.0:0.0	.	34	Q6ZMC9	SIG15_HUMAN	I	34	ENSP00000374125:T34I	ENSP00000374125:T34I	T	+	2	0	SIGLEC15	41671040	1.000000	0.71417	0.938000	0.37757	0.808000	0.45660	3.014000	0.49590	2.200000	0.70718	0.462000	0.41574	ACA		0.438	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		170	244	0	0	0	1	0	170	244					T	43417042	C	T	43417042	3	4	35	1	0	0	0	0	1	0	0	0	14360	478	17	2	107	2	SIGLEC15	18	43417042	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	40850091	43417042	34660206	117	4224											
CNN2	1265	broad.mit.edu	37	chr19	1037794	1037794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaccccaagtactgcccGcaaggcacagtggccgatgg	12	13	0	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:1037794G>A	ENST00000263097.4	+	7	1188	c.825G>A	c.(823-825)ccG>ccA	p.P275P	ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000348419.3_Silent_p.P236P|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Silent_p.P296P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	275					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGTACTGCCCGCAAGGCACAG	0.672																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(823-825)ccG>ccA		calponin 2							52	63	59					19																	1037794		2199	4289	6488	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037794G>A	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.825G>A	19.37:g.1037794G>A						CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR	p.P275P	NM_004368.2	NP_004359.1	Q99439	CNN2_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)	7	1188	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	275					A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.825G>A	CCDS12053.1																																																																																				0.672	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		8	954	0	0	0	1	0	8	954					A	1037794	G	A	1037794	2	1	35	1	0	0	0	0	0	0	0	1	3619	1074	38	1		1	CNN2	19	1037794	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		1037794	58091189	118	4225											
TMEM146	257062	broad.mit.edu	37	chr19	5744474	5744474	+	Frame_Shift_Del	DEL	T	T	-													ctttaggcggaatcttccacTttttttctttgtcacaggtt					rs371175663		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:5744474delT	ENST00000381624.3	+	8	671	c.610delT	c.(610-612)tttfs	p.F205fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	205					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AATCTTCCACTTTTTTTCTTT	0.413																																						ENST00000381624.3																			0											c.(610-612)ttfs		catsper channel auxiliary subunit delta							208	182	190					19																	5744474		1833	4094	5927	SO:0001589	frameshift_variant	257062					integral to membrane		g.chr19:5744474delT	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.610delT	19.37:g.5744474delT	ENSP00000371037:p.Phe205fs					CATSPERD_ENST00000381614.2_5'UTR	p.F205fs	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			8	671	+			205					Q6ZRP1	Frame_Shift_Del	DEL	ENST00000381624.3	37	c.610delT	CCDS12149.2																																																																																				0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		7	1075						7	1075	---	---	---	---	-	5744474	T	-	5744474	7	5	35	1	0	1	0	1	0	0	0	0	16112	1609	56	0	640	0	TMEM146	19	5744474	Frame_Shift_Del	DEL	T	TCGA-3A-A9IV-01A-11D-A40W-08	4706680	5744474	53384509	119	4226											
PDE4A	5141	broad.mit.edu	37	chr19	10578143	10578144	+	Frame_Shift_Ins	INS	-	-	C													tcagagcatgccccgggcctINScccgggcctcccctccacgg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:10578143_10578144insC	ENST00000352831.6	+	15	2617_2618	c.2507_2508insC	c.(2506-2511)ctcccgfs	p.LP836fs	PDE4A_ENST00000440014.2_Frame_Shift_Ins_p.LP775fs|PDE4A_ENST00000380702.2_Frame_Shift_Ins_p.LP814fs|PDE4A_ENST00000344979.3_Frame_Shift_Ins_p.LP597fs|PDE4A_ENST00000293683.5_Frame_Shift_Ins_p.LP810fs|PDE4A_ENST00000592685.1_Frame_Shift_Ins_p.LP814fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	836					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCCCGGGCCTCCCGGGCCTCC	0.663																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2440-2442)cccfs		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)																																			SO:0001589	frameshift_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578143_10578144insC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2510dupC	19.37:g.10578146_10578146dupC	ENSP00000270474:p.Leu836fs					PDE4A_ENST00000440014.2_Frame_Shift_Ins_p.P775fs|PDE4A_ENST00000352831.6_Frame_Shift_Ins_p.P836fs|PDE4A_ENST00000592685.1_Frame_Shift_Ins_p.P814fs|PDE4A_ENST00000344979.3_Frame_Shift_Ins_p.P597fs|PDE4A_ENST00000293683.5_Frame_Shift_Ins_p.P810fs	p.P814fs			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2441_2442	+			836					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Ins	INS	ENST00000352831.6	37	c.2441_2442insC	CCDS45961.1																																																																																				0.663	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			7	1139						7	1139	---	---	---	---	C	10578144	-	C	10578143	7	5	35	1	0	1	1	0	0	0	0	0	11681	1551	54	0	3022	0	PDE4A	19	10578143	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	4833669	10578143	48550840	120	4227											
ZNF799	90576	broad.mit.edu	37	chr19	12501560	12501560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcatgtgaattcttTcatgtcgtagaaagcaagtg	8	8	4	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:12501560T>C	ENST00000430385.3	-	4	1852	c.1652A>G	c.(1651-1653)gAa>gGa	p.E551G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E519G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTGAATTCTTTCATGTCGTAG	0.393																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1555-1557)gAa>gGa		zinc finger protein 799							93	96	95					19																	12501560		2202	4300	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501560T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1652A>G	19.37:g.12501560T>C	ENSP00000411084:p.Glu551Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E551G	p.E519G			Q96GE5	ZN799_HUMAN			4	2305	-			551						Missense_Mutation	SNP	ENST00000430385.3	37	c.1556A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811876	0.32053	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.18657	2.2;2.2	1.53	-0.919	0.10478	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	M	0.62209	1.925	0.09310	N	1	B	0.17852	0.024	B	0.29353	0.101	T	0.40720	-0.9548	9	0.62326	D	0.03	.	3.0258	0.06090	0.2117:0.1463:0.0:0.642	.	551	Q96GE5	ZN799_HUMAN	G	519;551	ENSP00000415278:E519G;ENSP00000411084:E551G	ENSP00000415278:E519G	E	-	2	0	ZNF799	12362560	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-1.204000	0.03017	-0.358000	0.08162	0.352000	0.21897	GAA		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	592	0	0	0	1	0	5	592					C	12501560	T	C	12501560	3	2	35	1	0	0	0	0	1	0	0	0	18219	1783	62	4	283	4	ZNF799	19	12501560	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	1923417	12501560	46627423	121	4228											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		11	1003	0	0	0	1	0	11	1003					A	12575498	G	A	12575498	3	1	35	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	73938	12575498	46553485	122	4229											
CCDC130	81576	broad.mit.edu	37	chr19	13873869	13873869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtggcggactactccgactCggagagtgagtgagcgatcc	15	11	0	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:13873869C>T	ENST00000586600.1	+	11	1681	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.S393L|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	393					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TACTCCGACTCGGAGAGTGAG	0.697																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1177-1179)tCg>tTg		coiled-coil domain containing 130							13	16	15					19																	13873869		2194	4278	6472	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873869C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.1178C>T	19.37:g.13873869C>T	ENSP00000465776:p.Ser393Leu					CCDC130_ENST00000221554.8_Missense_Mutation_p.S393L	p.S393L			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1681	+			393					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.1178C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573642	0.65765	.	.	ENSG00000104957	ENST00000221554	T	0.38240	1.15	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.63616	-0.6597	10	0.72032	D	0.01	-18.0137	16.4025	0.83647	0.0:1.0:0.0:0.0	.	393;393	B3KUZ1;P13994	.;CC130_HUMAN	L	393	ENSP00000221554:S393L	ENSP00000221554:S393L	S	+	2	0	CCDC130	13734869	1.000000	0.71417	0.285000	0.24819	0.074000	0.17049	5.206000	0.65192	2.488000	0.83962	0.491000	0.48974	TCG		0.697	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		30	124	0	0	0	1	0	30	124					T	13873869	C	T	13873869	3	4	35	1	0	0	0	0	1	0	0	0	2773	893	31	1	1212	1	CCDC130	19	13873869	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	1298371	13873869	45255114	123	4230											
CHERP	10523	broad.mit.edu	37	chr19	16636214	16636214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgctgctggtggggcGggaagggcccccggaagtgt	22	9	0	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:16636214G>A	ENST00000198939.6	-	10	1649	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L	CHERP_ENST00000546361.2_Missense_Mutation_p.P527L|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGGTGGGGCGGGAAGGGCCC	0.726																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1579-1581)cCg>cTg		calcium homeostasis endoplasmic reticulum protein							9	13	12					19																	16636214		1976	4077	6053	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16636214G>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1613C>T	19.37:g.16636214G>A	ENSP00000198939:p.Pro538Leu					CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P538L	p.P527L	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			10	1731	-			527			Pro-rich.			Missense_Mutation	SNP	ENST00000198939.6	37	c.1580C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.468652	0.84533	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.86432	-2.12;-2.12	4.87	4.87	0.63330	.	.	.	.	.	D	0.92143	0.7509	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93114	0.6519	9	0.87932	D	0	-15.8852	16.9961	0.86368	0.0:0.0:1.0:0.0	.	527	Q8IWX8	CHERP_HUMAN	L	527;538	ENSP00000439856:P527L;ENSP00000198939:P538L	ENSP00000198939:P538L	P	-	2	0	CHERP	16497214	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.078000	0.94023	2.235000	0.73313	0.561000	0.74099	CCG		0.726	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	37	0	0	0	1	0	3	37					A	16636214	G	A	16636214	3	1	35	1	0	0	0	0	1	0	0	0	3345	1116	39	1	1202	1	CHERP	19	16636214	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	2762345	16636214	42492769	124	4231											
C19orf60	55049	broad.mit.edu	37	chr19	18702974	18702974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccttaggtttgatgCggaatctgccgagtgatggc	14	9	1	2	rs573574113		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:18702974C>T	ENST00000358607.6	+	5	667	c.590C>T	c.(589-591)gCg>gTg	p.A197V	C19orf60_ENST00000450195.2_Missense_Mutation_p.A175V|CRLF1_ENST00000594325.1_Intron	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	197																	AGGTTTGATGCGGAATCTGCC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18323	0.0		0.0	False		,,,				2504	0.001					ENST00000358607.6																			0											c.(589-591)gCg>gTg		chromosome 19 open reading frame 60							86	85	85					19																	18702974		1948	4133	6081	SO:0001583	missense	55049						protein binding	g.chr19:18702974C>T	AK000857	CCDS42524.1, CCDS46019.1	19p13.11	2012-10-26			ENSG00000006015	ENSG00000006015			26098	protein-coding gene	gene with protein product						12477932	Standard	NM_001100419		Approved	FLJ20850, FLJ30108, FLJ34606, FLJ37391	uc010ebs.3	Q96EN9		ENST00000358607.6:c.590C>T	19.37:g.18702974C>T	ENSP00000351422:p.Ala197Val					C19orf60_ENST00000450195.2_Missense_Mutation_p.A175V|CRLF1_ENST00000594325.1_Intron	p.A197V	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN			5	667	+			197					E9PAS0|Q8NAX4|Q9NWI0	Missense_Mutation	SNP	ENST00000358607.6	37	c.590C>T	CCDS42524.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127567	0.77549	.	.	ENSG00000006015	ENST00000358607;ENST00000450195	.	.	.	4.66	3.62	0.41486	.	7739.210000	0.00166	U	0.000002	T	0.45518	0.1346	M	0.65975	2.015	0.29194	N	0.87563	P;P	0.50272	0.933;0.933	B;B	0.40940	0.344;0.344	T	0.35475	-0.9787	9	0.31617	T	0.26	-9.1686	8.7423	0.34564	0.0:0.8929:0.0:0.1071	.	175;197	E9PAS0;Q96EN9	.;CS060_HUMAN	V	197;175	.	ENSP00000351422:A197V	A	+	2	0	C19orf60	18563974	0.999000	0.42202	0.934000	0.37439	0.976000	0.68499	4.662000	0.61525	0.971000	0.38288	-0.253000	0.11424	GCG		0.587	C19orf60-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000465133.1	NM_017967		5	329	0	0	0	1	0	5	329					T	18702974	C	T	18702974	3	4	35	1	0	0	0	0	1	0	0	0	1949	768	27	1	608	1	C19orf60	19	18702974	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	2066760	18702974	40426009	125	4232											
PBX4	80714	broad.mit.edu	37	chr19	19672926	19672926	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctgccagctaccctgggCctgaaacgacagagactgag	11	15	0	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:19672926C>A	ENST00000251203.9	-	8	1319	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	345					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTACCCTGGGCCTGAAACGAC	0.622																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.e8-1		pre-B-cell leukemia homeobox 4							33	31	32					19																	19672926		2201	4298	6499	SO:0001630	splice_region_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19672926C>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.1033-1G>T	19.37:g.19672926C>A							p.A345_splice	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			8	1319	-			345					A5D8Y0|B3KUK9	Splice_Site	SNP	ENST00000251203.9	37	c.1032_splice	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608344	0.28623	.	.	ENSG00000105717	ENST00000251203	D	0.90261	-2.64	2.74	-2.46	0.06461	.	0.405411	0.20630	N	0.088616	T	0.80188	0.4577	L	0.43152	1.355	0.25790	N	0.984622	B	0.18461	0.028	B	0.09377	0.004	T	0.63431	-0.6639	10	0.27785	T	0.31	-25.6235	1.5418	0.02557	0.1567:0.4406:0.1723:0.2304	.	345	Q9BYU1	PBX4_HUMAN	S	345	ENSP00000251203:A345S	ENSP00000251203:A345S	A	-	1	0	PBX4	19533926	0.976000	0.34144	0.051000	0.19133	0.046000	0.14306	0.056000	0.14256	-0.284000	0.09102	-0.355000	0.07637	GCC		0.622	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6		Missense_Mutation	13	61	1	0	1.5842e-08	1	1.68552e-08	13	61					A	19672926	C	A	19672926	5	1	35	1	0	0	0	0	0	0	1	0	11537	753	26	3	95	3	PBX4	19	19672926	Splice_Site	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	969952	19672926	39456057	126	4233											
ZNF737	100129842	broad.mit.edu	37	chr19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattatcttatgtgta	8	5	2	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(838-840)aCt>aGt		zinc finger protein 737							35	35	35					19																	20728170		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728170G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.839C>G	19.37:g.20728170G>C	ENSP00000395733:p.Thr280Ser						p.T280S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	933	-			280					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.839C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.999	0.755032	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.24151	1.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.08492	0.0211	N	0.01257	-0.925	0.26687	N	0.97143	B	0.11235	0.004	B	0.20577	0.03	T	0.29852	-0.9998	9	0.56958	D	0.05	.	6.1513	0.20313	0.0:0.3233:0.6767:0.0	.	280	C9JHM3	.	S	280	ENSP00000395733:T280S	ENSP00000395733:T280S	T	-	2	0	ZNF737	20520010	0.013000	0.17824	0.087000	0.20705	0.088000	0.18126	0.098000	0.15189	-1.262000	0.02459	-1.289000	0.01358	ACT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		5	440	0	0	0	1	0	5	440					C	20728170	G	C	20728170	3	2	35	1	0	0	0	0	1	0	0	0	18179	1029	36	5	775	5	ZNF737	19	20728170	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	1055244	20728170	38400813	127	4234											
ZNF626	199777	broad.mit.edu	37	chr19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtatgaattAtcttatgcgtagtaaggtct	8	7	3	1	rs369061479		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1165-1167)aTa>aGa		zinc finger protein 626							58	61	60					19																	20807517		2137	4276	6413	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807517A>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1166T>G	19.37:g.20807517A>C	ENSP00000469958:p.Ile389Arg					CTC-513N18.7_ENST00000595094.1_lincRNA	p.I389R	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1312	-			389					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1166T>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.420587	0.00013	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.00072	-2.265	0.42855	D	0.994096	B	0.06786	0.001	B	0.13407	0.009	T	0.37888	-0.9686	8	0.02654	T	1	.	3.6201	0.08092	0.5901:0.4099:0.0:0.0	.	389	Q68DY1	ZN626_HUMAN	R	389;313;389	.	ENSP00000445201:I389R	I	-	2	0	ZNF626	20599357	0.000000	0.05858	0.055000	0.19348	0.055000	0.15305	-2.406000	0.01044	0.243000	0.21327	0.240000	0.17902	ATA		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		7	725	0	0	0	1	0	7	725					C	20807517	A	C	20807517	3	2	35	1	0	0	0	0	1	0	0	0	18103	449	16	4	424	4	ZNF626	19	20807517	Missense_Mutation	SNP	A	TCGA-3A-A9IV-01A-11D-A40W-08	79347	20807517	38321466	128	4235											
ZNF85	7639	broad.mit.edu	37	chr19	21132761	21132761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcatacagaagagaaaCcttacaaatgtgaagaatgt	8	5	1	4			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21132761C>A	ENST00000328178.8	+	4	1554	c.1441C>A	c.(1441-1443)Cct>Act	p.P481T	ZNF85_ENST00000345030.6_Missense_Mutation_p.P448T|ZNF85_ENST00000601023.1_Missense_Mutation_p.P422T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AGAAGAGAAACCTTACAAATG	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1264-1266)Cct>Act		zinc finger protein 85							25	27	26					19																	21132761		2200	4292	6492	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132761C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1441C>A	19.37:g.21132761C>A	ENSP00000329793:p.Pro481Thr					ZNF85_ENST00000345030.6_Missense_Mutation_p.P448T|ZNF85_ENST00000328178.8_Missense_Mutation_p.P481T	p.P422T			Q03923	ZNF85_HUMAN			2	1910	+			481					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1264C>A	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317427	0.23908	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.16897	2.31;2.31	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	N	0.11818	0.18	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.989	D;D;D	0.80764	0.978;0.994;0.972	T	0.06770	-1.0808	9	0.72032	D	0.01	.	9.5712	0.39429	0.0:1.0:0.0:0.0	.	448;422;481	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	481;448;356	ENSP00000329793:P481T;ENSP00000342340:P448T	ENSP00000329793:P481T	P	+	1	0	ZNF85	20924601	0.776000	0.28616	0.111000	0.21465	0.265000	0.26407	3.718000	0.54919	0.681000	0.31386	0.462000	0.41574	CCT		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		106	143	1	0	4.98428e-49	1	5.49472e-49	106	143					A	21132761	C	A	21132761	3	1	35	1	0	0	0	0	1	0	0	0	18246	507	18	3	1455	3	ZNF85	19	21132761	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	325244	21132761	37996222	129	4236											
ZNF714	148206	broad.mit.edu	37	chr19	21281113	21281113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactacaaaaacctggtcttCttgggtgagaataactttaa	7	7	2	1	rs377697860		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21281113C>G	ENST00000596143.1	+	3	364	c.39C>G	c.(37-39)ttC>ttG	p.F13L	ZNF714_ENST00000601416.1_Missense_Mutation_p.F13L|ZNF714_ENST00000596053.1_Missense_Mutation_p.F13L|ZNF714_ENST00000291770.7_Missense_Mutation_p.F13L	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACCTGGTCTTCTTGGGTGAGA	0.338																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(37-39)ttC>ttG		zinc finger protein 714		C	LEU/PHE	1,4405		0,1,2202	96	109	104		39	-0.6	0.1	19		104	0,8600		0,0,4300	no	missense	ZNF714	NM_182515.3	22	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	13/555	21281113	1,13005	2203	4300	6503	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21281113C>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.39C>G	19.37:g.21281113C>G	ENSP00000472368:p.Phe13Leu					ZNF714_ENST00000601416.1_Missense_Mutation_p.F13L|ZNF714_ENST00000596053.1_Missense_Mutation_p.F13L|ZNF714_ENST00000291770.7_Missense_Mutation_p.F13L	p.F13L	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			3	364	+			13			KRAB.		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.39C>G	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	1.971	-0.436557	0.04636	2.27E-4	0.0	ENSG00000160352	ENST00000343332;ENST00000291770	T	0.00745	5.75	0.689	-0.569	0.11756	.	.	.	.	.	T	0.02455	0.0075	M	0.72479	2.2	0.19300	N	0.999975	P	0.52842	0.956	P	0.62184	0.899	T	0.39502	-0.9611	8	0.52906	T	0.07	.	.	.	.	.	13	A6NEM4	.	L	13	ENSP00000291770:F13L	ENSP00000291770:F13L	F	+	3	2	ZNF714	21072953	0.026000	0.19158	0.084000	0.20598	0.023000	0.10783	-0.196000	0.09532	-0.171000	0.10797	-0.467000	0.05162	TTC		0.338	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		90	516	0	0	0	1	0	90	516					G	21281113	C	G	21281113	3	3	35	1	0	0	0	0	1	0	0	0	18171	912	32	5	41	5	ZNF714	19	21281113	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	148352	21281113	37847870	130	4237											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		8	601	0	0	0	1	0	8	601					T	21606468	C	T	21606468	3	4	35	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	325355	21606468	37522515	131	4238											
ZNF429	353088	broad.mit.edu	37	chr19	21720411	21720411	+	Missense_Mutation	SNP	T	T	A													agaatgtggcaaagcttttaTcctgtcctcaagacttactc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21720411T>A	ENST00000358491.4	+	4	1764	c.1556T>A	c.(1555-1557)aTc>aAc	p.I519N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	519					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAAGCTTTTATCCTGTCCTCA	0.378																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1555-1557)aTc>aAc		zinc finger protein 429							38	42	41					19																	21720411		2126	4266	6392	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720411T>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1556T>A	19.37:g.21720411T>A	ENSP00000351280:p.Ile519Asn					ZNF429_ENST00000597078.1_Intron	p.I519N	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1764	+			519					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1556T>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.870633	0.00063	.	.	ENSG00000197013	ENST00000358491	T	0.10573	2.86	0.81	-0.528	0.11905	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03000	-0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46735	-0.9170	9	0.08179	T	0.78	.	4.4571	0.11649	0.0:0.4831:0.0:0.5169	.	519	Q86V71	ZN429_HUMAN	N	519	ENSP00000351280:I519N	ENSP00000351280:I519N	I	+	2	0	ZNF429	21512251	0.000000	0.05858	0.733000	0.30861	0.733000	0.41908	-1.856000	0.01662	0.156000	0.19299	0.155000	0.16302	ATC		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		6	564	0	0	0	1	0	6	564					A	21720411	T	A	21720411	3	1	35	1	0	0	0	0	1	0	0	0	17955	1435	50	5	1570	5	ZNF429	19	21720411	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	113943	21720411	37408572	132	4239	29	2									
ZNF429	353088	broad.mit.edu	37	chr19	21720414	21720414	+	Missense_Mutation	SNP	T	T	G													atgtggcaaagcttttatccTgtcctcaagacttactcaac							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:21720414T>G	ENST00000358491.4	+	4	1767	c.1559T>G	c.(1558-1560)cTg>cGg	p.L520R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	520					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GCTTTTATCCTGTCCTCAAGA	0.378																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1558-1560)cTg>cGg		zinc finger protein 429							38	42	41					19																	21720414		2129	4263	6392	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720414T>G	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1559T>G	19.37:g.21720414T>G	ENSP00000351280:p.Leu520Arg					ZNF429_ENST00000597078.1_Intron	p.L520R	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1767	+			520					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1559T>G	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.055249	0.00390	.	.	ENSG00000197013	ENST00000358491	T	0.08807	3.05	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.00783	-1.19	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47182	-0.9137	9	0.17369	T	0.5	.	3.76	0.08601	0.5663:0.0:0.0:0.4337	.	520	Q86V71	ZN429_HUMAN	R	520	ENSP00000351280:L520R	ENSP00000351280:L520R	L	+	2	0	ZNF429	21512254	0.000000	0.05858	0.694000	0.30210	0.695000	0.40330	-4.603000	0.00210	0.156000	0.19299	0.155000	0.16302	CTG		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		8	562	0	0	0	1	0	8	562					G	21720414	T	G	21720414	3	3	35	1	0	0	0	0	1	0	0	0	17955	1580	55	4	1573	4	ZNF429	19	21720414	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	3	21720414	37408569	133	4240	29	2									
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1743						7	1743	---	---	---	---	-	36054351	CTT	-	36054349	7	5	35	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-3A-A9IV-01A-11D-A40W-08	14333935	36054349	23074634	134	4241											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			14	1820						14	1820	---	---	---	---	-	36255949	CTC	-	36255947	7	5	35	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-3A-A9IV-01A-11D-A40W-08	201598	36255947	22873036	135	4242											
PAPL	390928	broad.mit.edu	37	chr19	39597715	39597715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacatccagcaggtgtcGgacgaccaggtcagtgaggg	14	11	1	1	rs151134063	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:39597715G>A	ENST00000331256.5	+	12	1516	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		414						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGCAGGTGTCGGACGACCAGG	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.0					ENST00000331256.5																			0											c.(1240-1242)tcG>tcA						2,4404	4.2+/-10.8	0,2,2201	73	54	60		1242	-9.3	0	19	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	PAPL	NM_001004318.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		414/439	39597715	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39597715G>A																												ENST00000331256.5:c.1242G>A	19.37:g.39597715G>A						PAPL_ENST00000594229.1_Intron	p.S414S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			12	1516	+			414					B2RN68	Silent	SNP	ENST00000331256.5	37	c.1242G>A	CCDS33018.1																																																																																				0.622	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			74	178	0	0	0	1	0	74	178					A	39597715	G	A	39597715	2	1	35	1	0	0	0	0	0	0	0	1	11469	1103	39	1		1	PAPL	19	39597715	Silent	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	3341768	39597715	19531268	136	4243											
ZNF28	7576	broad.mit.edu	37	chr19	53304126	53304126	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttacatttgtatggtttCcctccagtataaattatctt	4	9	1	0			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:53304126C>T	ENST00000457749.2	-	4	1091	c.972G>A	c.(970-972)ggG>ggA	p.G324G	ZNF28_ENST00000438150.2_Silent_p.G271G|ZNF28_ENST00000360272.4_Silent_p.G271G|ZNF28_ENST00000414252.2_Silent_p.G271G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTATGGTTTCCCTCCAGTAT	0.353																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(811-813)ggG>ggA		zinc finger protein 28							114	116	115					19																	53304126		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304126C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.972G>A	19.37:g.53304126C>T						ZNF28_ENST00000414252.2_Silent_p.G271G|ZNF28_ENST00000457749.2_Silent_p.G324G|ZNF28_ENST00000360272.4_Silent_p.G271G	p.G271G			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1706	-			324					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.813G>A	CCDS33093.2																																																																																				0.353	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		166	359	0	0	0	1	0	166	359					T	53304126	C	T	53304126	2	4	35	1	0	0	0	0	0	0	0	1	17866	842	30	2		2	ZNF28	19	53304126	Silent	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	13706411	53304126	5824857	137	4244											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	1042	0	0	0	1	0	9	1042					A	53644386	T	A	53644386	2	1	35	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	340260	53644386	5484597	138	4245											
CD93	22918	broad.mit.edu	37	chr20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-													gggtcccaggacgcacgtggCccccccacgacatgggctgg							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)gccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)ccfs		CD93 molecule							42	46	45					20																	23065887		2203	4300	6503	SO:0001589	frameshift_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065887delC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.943delG	20.37:g.23065887delC	ENSP00000246006:p.Ala315fs						p.A315fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1090	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.943delG	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		7	517						7	517	---	---	---	---	-	23065887	C	-	23065887	7	5	35	1	0	1	0	1	0	0	0	0	3056	739	26	0	1023	0	CD93	20	23065887	Frame_Shift_Del	DEL	C	TCGA-3A-A9IV-01A-11D-A40W-08		23065887	39959633	139	4246											
C20orf186	149954	broad.mit.edu	37	chr20	31685516	31685516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaggacaaagcgctgGtgaaggtgttggccactgcc	15	9	0	2			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:31685516G>A	ENST00000375483.3	+	11	1492	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	498						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAAAGCGCTGGTGAAGGTGTT	0.572																																						ENST00000375483.3																			0											c.(1492-1494)Gtg>Atg		BPI fold containing family B, member 4							140	106	117					20																	31685516		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685516G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1492G>A	20.37:g.31685516G>A	ENSP00000364632:p.Val498Met						p.V498M	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			11	1492	+			498					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1492G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633350	0.67015	.	.	ENSG00000186191	ENST00000375483	T	0.11604	2.76	5.44	5.44	0.79542	.	0.086502	0.48286	D	0.000185	T	0.32941	0.0846	M	0.74258	2.255	0.45777	D	0.998669	D	0.76494	0.999	D	0.72338	0.977	T	0.01169	-1.1430	10	0.56958	D	0.05	-17.807	15.1038	0.72303	0.0:0.0:1.0:0.0	.	498	P59827	BPIB4_HUMAN	M	498	ENSP00000364632:V498M	ENSP00000364632:V498M	V	+	1	0	BPIFB4	31149177	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	3.480000	0.53172	2.711000	0.92665	0.462000	0.41574	GTG		0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		129	391	0	0	0	1	0	129	391					A	31685516	G	A	31685516	3	1	35	1	0	0	0	0	1	0	0	0	2105	1261	44	2	1534	2	C20orf186	20	31685516	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	8619629	31685516	31340004	140	4247											
LPIN3	64900	broad.mit.edu	37	chr20	39978499	39978499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcccctaagagccgagTcccacatgcagtgggcctgg	12	15	0	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:39978499T>C	ENST00000373257.3	+	6	815	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	242					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AAGAGCCGAGTCCCACATGCA	0.642																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(724-726)Tcc>Ccc		lipin 3							30	33	32					20																	39978499		2203	4299	6502	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978499T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.724T>C	20.37:g.39978499T>C	ENSP00000362354:p.Ser242Pro						p.S242P	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			6	815	+		Myeloproliferative disorder(115;0.000739)	242					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.724T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943395	0.34283	.	.	ENSG00000132793	ENST00000373257	T	0.80738	-1.41	4.99	4.99	0.66335	.	0.137019	0.49916	D	0.000121	D	0.83207	0.5204	L	0.43598	1.365	0.34327	D	0.687207	B;D	0.89917	0.038;1.0	B;D	0.69307	0.051;0.963	D	0.86231	0.1637	9	.	.	.	-25.552	9.2741	0.37690	0.0:0.0821:0.0:0.9179	.	243;242	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	P	242	ENSP00000362354:S242P	.	S	+	1	0	LPIN3	39411913	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.848000	0.27710	2.015000	0.59207	0.482000	0.46254	TCC		0.642	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		10	381	0	0	0	1	0	10	381					C	39978499	T	C	39978499	3	2	35	1	0	0	0	0	1	0	0	0	8958	1667	58	4	742	4	LPIN3	20	39978499	Missense_Mutation	SNP	T	TCGA-3A-A9IV-01A-11D-A40W-08	8292983	39978499	23047021	141	4248											
CHD6	84181	broad.mit.edu	37	chr20	40049225	40049225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgatttgagctcacttCcttcaagaggatatgtgggg	11	8	3	3			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:40049225C>T	ENST00000373233.3	-	31	6227	c.6050G>A	c.(6049-6051)gGa>gAa	p.G2017E		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2017					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGCTCACTTCCTTCAAGAGG	0.403																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6049-6051)gGa>gAa		chromodomain helicase DNA binding protein 6							127	117	120					20																	40049225		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049225C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6050G>A	20.37:g.40049225C>T	ENSP00000362330:p.Gly2017Glu						p.G2017E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	6227	-		Myeloproliferative disorder(115;0.00425)	2017					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6050G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857299	0.32791	.	.	ENSG00000124177	ENST00000373233	D	0.84944	-1.92	6.07	4.1	0.47936	.	0.323072	0.27004	N	0.021419	T	0.79435	0.4445	L	0.59436	1.845	0.80722	D	1	B	0.27559	0.181	B	0.21151	0.033	T	0.72398	-0.4306	10	0.02654	T	1	-8.8596	15.3514	0.74389	0.0:0.736:0.264:0.0	.	2017	Q8TD26	CHD6_HUMAN	E	2017	ENSP00000362330:G2017E	ENSP00000362330:G2017E	G	-	2	0	CHD6	39482639	0.002000	0.14202	0.977000	0.42913	0.898000	0.52572	0.499000	0.22546	0.847000	0.35167	0.655000	0.94253	GGA		0.403	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			91	339	0	0	0	1	0	91	339					T	40049225	C	T	40049225	3	4	35	1	0	0	0	0	1	0	0	0	3338	855	30	2	2125	2	CHD6	20	40049225	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	70726	40049225	22976295	142	4249											
SFRS6	6431	broad.mit.edu	37	chr20	42088842	42088842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttattgaagataagccacGcacaagccataggcgatctt	9	10	1	2	rs147863077	byFrequency	TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:42088842G>A	ENST00000244020.3	+	4	657	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	184	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATAAGCCACGCACAAGCCAT	0.418																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(550-552)cGc>cAc		serine/arginine-rich splicing factor 6		G	HIS/ARG	2,4404		0,2,2201	38	40	40		551	6	1	20	dbSNP_134	40	5,8589		0,5,4292	yes	missense	SRSF6	NM_006275.5	29	0,7,6493	AA,AG,GG		0.0582,0.0454,0.0538	probably-damaging	184/345	42088842	7,12993	2203	4297	6500	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088842G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.551G>A	20.37:g.42088842G>A	ENSP00000244020:p.Arg184His						p.R184H	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	657	+			184			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.551G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529480	0.64860	4.54E-4	5.82E-4	ENSG00000124193	ENST00000244020	T	0.11821	2.74	5.98	5.98	0.97165	Nucleotide-binding, alpha-beta plait (1);	0.107759	0.64402	D	0.000005	T	0.20373	0.0490	L	0.55103	1.725	0.58432	D	0.999992	D;D	0.67145	0.989;0.996	P;P	0.46320	0.474;0.512	T	0.00254	-1.1874	10	0.37606	T	0.19	.	17.3688	0.87370	0.0:0.0:1.0:0.0	.	184;184	Q13247;A8K588	SRSF6_HUMAN;.	H	184	ENSP00000244020:R184H	ENSP00000244020:R184H	R	+	2	0	SRSF6	41522256	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.977000	0.70492	2.838000	0.97847	0.591000	0.81541	CGC		0.418	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		64	230	0	0	0	1	0	64	230					A	42088842	G	A	42088842	3	1	35	1	0	0	0	0	1	0	0	0	14231	1087	38	1	565	1	SFRS6	20	42088842	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08	2039617	42088842	20936678	143	4250											
RNF114	55905	broad.mit.edu	37	chr20	48561967	48561967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggctacttgttccaaatacCagaattacatcatggaaggt	8	8	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:48561967C>G	ENST00000244061.2	+	3	342	c.340C>G	c.(340-342)Cag>Gag	p.Q114E		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	114					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						TTCCAAATACCAGAATTACAT	0.478																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(340-342)Cag>Gag		ring finger protein 114							159	127	138					20																	48561967		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48561967C>G	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.340C>G	20.37:g.48561967C>G	ENSP00000244061:p.Gln114Glu						p.Q114E	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			3	342	+			114					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.340C>G	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392406	0.62066	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.80994	-1.44	6.06	5.12	0.69794	.	0.101130	0.64402	D	0.000001	T	0.80555	0.4645	L	0.41027	1.25	0.48632	D	0.999684	D;B	0.69078	0.997;0.4	P;B	0.61658	0.892;0.228	T	0.73633	-0.3921	10	0.13108	T	0.6	4.0057	10.343	0.43891	0.0:0.7932:0.1339:0.0729	.	114;114	Q9Y508-2;Q9Y508	.;RN114_HUMAN	E	114	ENSP00000244061:Q114E	ENSP00000244061:Q114E	Q	+	1	0	RNF114	47995374	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.498000	0.60373	2.880000	0.98712	0.650000	0.86243	CAG		0.478	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		150	215	0	0	0	1	0	150	215					G	48561967	C	G	48561967	3	3	35	1	0	0	0	0	1	0	0	0	13479	595	21	5	350	5	RNF114	20	48561967	Missense_Mutation	SNP	C	TCGA-3A-A9IV-01A-11D-A40W-08	6473125	48561967	14463553	144	4251											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	566						10	566	---	---	---	---	T	58452519	-	T	58452518	7	5	35	1	0	1	1	0	0	0	0	0	15484	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-3A-A9IV-01A-11D-A40W-08	9890551	58452518	4573002	145	4252											
SLC25A6	293	broad.mit.edu	37	chrX	1508304	1508304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgactttcccacgtccGctgccaggcgggttctggcg	13	15	1	1			TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:1508304G>A	ENST00000381401.5	-	2	1142	c.428C>T	c.(427-429)gCg>gTg	p.A143V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	143					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCCCACGTCCGCTGCCAGGCG	0.672																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(427-429)gCg>gTg		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						109	116	114					X																	1508304		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508304G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.428C>T	X.37:g.1508304G>A	ENSP00000370808:p.Ala143Val					SLC25A6_ENST00000475167.1_5'UTR	p.A143V	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1142	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	143					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.428C>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.826432	0.32329	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.78126	-1.15	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.53938	D	0.000042	T	0.62732	0.2452	N	0.21324	0.655	0.09310	N	1	D	0.59767	0.986	B	0.41088	0.347	T	0.60167	-0.7316	10	0.54805	T	0.06	.	12.0543	0.53524	0.0:0.0:1.0:0.0	.	143	P12236	ADT3_HUMAN	V	143	ENSP00000370808:A143V	ENSP00000370808:A143V	A	-	2	0	SLC25A6	1468304	1.000000	0.71417	0.003000	0.11579	0.191000	0.23601	7.368000	0.79567	0.982000	0.38575	0.402000	0.26972	GCG		0.672	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		6	537	0	0	0	1	0	6	537					A	1508304	G	A	1508304	3	1	35	1	0	0	0	0	1	0	0	0	14563	1087	38	1	480	1	SLC25A6	23	1508304	Missense_Mutation	SNP	G	TCGA-3A-A9IV-01A-11D-A40W-08		1508304	153762256	146	4253											
ATRX	546	broad.mit.edu	37	chrX	76778853	76778879	+	Splice_Site	DEL	CTGAAGGAGCTCTGCAAGTATGGTATC	CTGAAGGAGCTCTGCAAGTATGGTATC	-													acaatgtgttctttatgtatCtgaaggagctctgcaagtat					rs199474698		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC	ENST00000373344.5	-	31	6914_6940	c.6700_6726delGATACCATACTTGCAGAGCTCCTTCAG	c.(6700-6726)gataccatacttgcagagctccttcagdel	p.DTILAELLQ2234del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.DTILAELLQ2196del	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2234	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D2234G(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTTATGTATCTGAAGGAGCTCTGCAAGTATGGTATCCTGTTTAGAG	0.379			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Substitution - Missense(1)	p.D2234G(1)	haematopoietic_and_lymphoid_tissue(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e31-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6700-1GATACCATACTTGCAGAGCTCCTTCAG>-	X.37:g.76778853_76778879delCTGAAGGAGCTCTGCAAGTATGGTATC						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.DTILAELLQ2196_splice	p.DTILAELLQ2234_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	6914_6940	-			2234					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL	ENST00000373344.5	37	c.6699_splice	CCDS14434.1																																																																																				0.379	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	In_Frame_Del	127	234						127	234	---	---	---	---	-	76778879	CTGAAGGAGCTCTGCAAGTATGGTATC	-	76778853	8	5	35	1	0	1	0	1	0	0	1	0	1209	912	32	0	772	0	ATRX	23	76778853	Splice_Site	DEL	CTGAAGGAGCTCTGCAAGTATGGTATC	TCGA-3A-A9IV-01A-11D-A40W-08	75270549	76778853	78491707	147	4254											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		17	768						17	768	---	---	---	---	-	102004421	GAG	-	102004419	7	5	35	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-3A-A9IV-01A-11D-A40W-08	25225566	102004419	53266141	148	4255											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		8	535						8	535	---	---	---	---	-	110406208	GAA	-	110406206	7	5	35	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-3A-A9IV-01A-11D-A40W-08	8401787	110406206	44864354	149	4256											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-3A-A9IV-01A-11D-A40W-08	TCGA-3A-A9IV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ebcf76-a502-4b1f-9d5c-f1d692e04e07	a7be39be-646d-47be-ba27-cc833afeac15	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	392						8	392	---	---	---	---	-	149639635	GCA	-	149639633	7	5	35	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-3A-A9IV-01A-11D-A40W-08	39233427	149639633	5630927	150	4257											
FBXO6	26270	broad.mit.edu	37	chr1	11728956	11728956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaaaatcttctacttcCtacggagcctgcataggaac	8	11	2	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:11728956C>T	ENST00000376753.4	+	2	376	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	81	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACTTCCTACGGAGCCT	0.602																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(241-243)Cta>Tta		F-box protein 6							53	59	57					1																	11728956		2203	4300	6503	SO:0001819	synonymous_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11728956C>T	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.241C>T	1.37:g.11728956C>T							p.L81L	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	376	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	81			FBA.		B1AK42|B2RC88|Q9UKT3	Silent	SNP	ENST00000376753.4	37	c.241C>T	CCDS133.1																																																																																				0.602	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		6	273	0	0	0	1	0	6	273					T	11728956	C	T	11728956	2	4	36	1	0	0	0	0	0	0	0	1	5784	680	24	2		2	FBXO6	1	11728956	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		11728956	237521665	1	4258											
NBPF1	55672	broad.mit.edu	37	chr1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctctactgcctccaGcagctccctgctgagcctgg	10	16	2	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25	21	22					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		16	3413	0	0	0	1	0	16	3413					C	16892284	G	C	16892284	3	2	36	1	0	0	0	0	1	0	0	0	10233	962	34	5	523	5	NBPF1	1	16892284	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	5163328	16892284	232358337	2	4259											
B4GALT2	8704	broad.mit.edu	37	chr1	44455987	44455988	+	Frame_Shift_Ins	INS	-	-	C													aggtttaccaagattcaaaaINScacgaagctgaccatgaagc							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:44455987_44455988insC	ENST00000356836.6	+	7	1776_1777	c.986_987insC	c.(985-990)aacacgfs	p.T330fs	B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.T264fs|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.T330fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.T359fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	330					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGATTCAAAACACGAAGCTGA	0.465																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(985-987)aacfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455987_44455988insC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.987dupC	1.37:g.44455988_44455988dupC	ENSP00000349293:p.Thr330fs					B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs	p.N329fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1776_1777	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	329					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Frame_Shift_Ins	INS	ENST00000356836.6	37	c.986_987insC	CCDS506.1																																																																																				0.465	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	1787						7	1787	---	---	---	---	C	44455988	-	C	44455987	7	5	36	1	0	1	1	0	0	0	0	0	1272	43	2	0	1008	0	B4GALT2	1	44455987	Frame_Shift_Ins	INS	-	TCGA-3A-A9IX-01A-11D-A40W-08	27563703	44455987	204794634	3	4260											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	919						12	919	---	---	---	---	-	74957826	CTT	-	74957824	6	5	36	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-3A-A9IX-01A-11D-A40W-08	30501837	74957824	174292797	4	4261											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260	258	259					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	1087	0	0	0	1	0	8	1087					A	152382749	G	A	152382749	3	1	36	1	0	0	0	0	1	0	0	0	3901	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	77424925	152382749	96867872	5	4262											
SLC27A3	11000	broad.mit.edu	37	chr1	153747855	153747855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtgtgccagcgcacgcGcgctccctggaaggagaagt	17	12	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:153747855G>A	ENST00000368661.3	+	1	88	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SLC27A3_ENST00000271857.2_Missense_Mutation_p.R89H|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	8					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCGCACGCGCGCTCCCTGG	0.677																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(265-267)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 3							52	58	56					1																	153747855		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153747855G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.23G>A	1.37:g.153747855G>A	ENSP00000357650:p.Arg8His					SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR	p.R89H			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1026	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		8					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.266G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541870	0.65198	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.62105	0.05;0.2	4.32	4.32	0.51571	.	.	.	.	.	T	0.42810	0.1219	N	0.08118	0	0.28144	N	0.929672	D	0.76494	0.999	P	0.56751	0.805	T	0.46965	-0.9153	9	0.87932	D	0	-3.5406	12.3256	0.55009	0.0:0.0:1.0:0.0	.	8	Q5K4L6	S27A3_HUMAN	H	89;8	ENSP00000271857:R89H;ENSP00000357650:R8H	ENSP00000271857:R89H	R	+	2	0	SLC27A3	152014479	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	1.460000	0.35244	1.973000	0.57446	0.462000	0.41574	CGC		0.677	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		20	329	0	0	0	1	0	20	329					A	153747855	G	A	153747855	3	1	36	1	0	0	0	0	1	0	0	0	14577	1087	38	1	25	1	SLC27A3	1	153747855	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	1365106	153747855	95502766	6	4263											
PRG4	10216	broad.mit.edu	37	chr1	186276168	186276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCcccaagaagcctgccccaac	7	20	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				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						c.(1315-1317)acC>acT		proteoglycan 4							77	84	82					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>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.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	391	0	0	0	1	0	7	391					T	186276168	C	T	186276168	2	4	36	1	0	0	0	0	0	0	0	1	12528	610	22	2		2	PRG4	1	186276168	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	32528313	186276168	62974453	7	4264											
ZNF496	84838	broad.mit.edu	37	chr1	247473673	247473673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatgatgaactctccaTagaagccagtctgggcagga	10	12	2	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:247473673T>C	ENST00000294753.4	-	6	1201	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	246	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACTCTCCATAGAAGCCAGT	0.507																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(736-738)tAt>tGt		zinc finger protein 496							77	67	70					1																	247473673		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247473673T>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.737A>G	1.37:g.247473673T>C	ENSP00000294753:p.Tyr246Cys					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C	p.Y246C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		6	1201	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		246			KRAB.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.737A>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103212	0.56183	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07021	3.23;3.23	3.65	3.65	0.41850	Krueppel-associated box (4);	0.000000	0.38897	N	0.001537	T	0.27559	0.0677	M	0.84156	2.68	0.35851	D	0.826793	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.30090	-0.9990	10	0.56958	D	0.05	-23.0442	8.8913	0.35434	0.0:0.0:0.0:1.0	.	282;246	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	246;282	ENSP00000294753:Y246C;ENSP00000355454:Y282C	ENSP00000294753:Y246C	Y	-	2	0	ZNF496	245540296	0.987000	0.35691	0.963000	0.40424	0.966000	0.64601	3.047000	0.49854	1.672000	0.50884	0.533000	0.62120	TAT		0.507	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		14	281	0	0	0	1	0	14	281					C	247473673	T	C	247473673	3	2	36	1	0	0	0	0	1	0	0	0	17998	1406	49	4	1042	4	ZNF496	1	247473673	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	61197505	247473673	1776948	8	4265											
GREB1	9687	broad.mit.edu	37	chr2	11772081	11772081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcactccaaccaccggccGtcacgaacatgggctcttta	7	15	3	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:11772081G>A	ENST00000381486.2	+	27	4958	c.4658G>A	c.(4657-4659)cGt>cAt	p.R1553H	GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCACCGGCCGTCACGAACAT	0.443																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4657-4659)cGt>cAt		growth regulation by estrogen in breast cancer 1							98	95	96					2																	11772081		1927	4125	6052	SO:0001583	missense	9687					integral to membrane		g.chr2:11772081G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4658G>A	2.37:g.11772081G>A	ENSP00000370896:p.Arg1553His					GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4958	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1553					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4658G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554458	0.86231	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.55930	0.49;0.49;0.49	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76591	-0.2903	10	0.72032	D	0.01	-21.4125	19.3358	0.94319	0.0:0.0:1.0:0.0	.	1553	Q4ZG55	GREB1_HUMAN	H	1553;1553;551	ENSP00000370896:R1553H;ENSP00000234142:R1553H;ENSP00000379429:R551H	ENSP00000234142:R1553H	R	+	2	0	GREB1	11689532	1.000000	0.71417	0.963000	0.40424	0.471000	0.32888	9.343000	0.97047	2.573000	0.86826	0.557000	0.71058	CGT		0.443	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		13	282	0	0	0	1	0	13	282					A	11772081	G	A	11772081	3	1	36	1	0	0	0	0	1	0	0	0	6790	1145	40	1	4868	1	GREB1	2	11772081	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		11772081	231427292	9	4266											
FIGN	55137	broad.mit.edu	37	chr2	164466403	164466403	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtgggattaaaagtcGtttcatgaagtacctccgaa	11	6	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:164466403G>A	ENST00000333129.3	-	3	2253	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	647					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATTAAAAGTCGTTTCATGAAG	0.443																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1939-1941)Cga>Tga		fidgetin							99	97	98					2																	164466403		2014	4168	6182	SO:0001587	stop_gained	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466403G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1939C>T	2.37:g.164466403G>A	ENSP00000333836:p.Arg647*					FIGN_ENST00000409634.1_Intron	p.R647*	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2253	-			647					B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	c.1939C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	39	7.338110	0.98221	.	.	ENSG00000182263	ENST00000333129	.	.	.	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9622	13.5518	0.61736	0.0:0.0:0.708:0.292	.	.	.	.	X	647	.	ENSP00000333836:R647X	R	-	1	2	FIGN	164174649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.912000	0.56386	1.382000	0.46385	0.467000	0.42956	CGA		0.443	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		22	355	0	0	0	1	0	22	355					A	164466403	G	A	164466403	4	1	36	1	0	0	0	0	0	1	0	0	5916	1153	40	1	344	1	FIGN	2	164466403	Nonsense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	152694322	164466403	78732970	10	4267											
CASP10	843	broad.mit.edu	37	chr2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttggagctgtctactcttCggatgaggccctcattccca	9	12	3	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:202073970C>T	ENST00000272879.5	+	9	1284	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000286186.6_Missense_Mutation_p.S367L|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	367					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCTACTCTTCGGATGAGGCC	0.527																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1099-1101)tCg>tTg		caspase 10, apoptosis-related cysteine peptidase							155	140	145					2																	202073970		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202073970C>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1100C>T	2.37:g.202073970C>T	ENSP00000272879:p.Ser367Leu					CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L	p.S367L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			9	1535	+			367					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1100C>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299455	0.60195	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.05	5.05	0.67936	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.342415	0.29087	N	0.013181	T	0.49440	0.1557	M	0.89353	3.025	0.31327	N	0.68525	D;D;D;D;D	0.89917	0.978;1.0;1.0;0.994;0.995	P;D;D;P;P	0.72982	0.759;0.947;0.979;0.772;0.768	T	0.61242	-0.7102	10	0.52906	T	0.07	.	10.695	0.45894	0.1465:0.7121:0.1414:0.0	.	300;324;367;324;367	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	L	367;367;324;300;324	ENSP00000286186:S367L;ENSP00000272879:S367L;ENSP00000237865:S324L;ENSP00000314599:S300L;ENSP00000396835:S324L	ENSP00000272879:S367L	S	+	2	0	CASP10	201782215	0.000000	0.05858	0.017000	0.16124	0.020000	0.10135	0.844000	0.27654	2.361000	0.80049	0.650000	0.86243	TCG		0.527	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		8	482	0	0	0	1	0	8	482					T	202073970	C	T	202073970	3	4	36	1	0	0	0	0	1	0	0	0	2676	893	31	1	1130	1	CASP10	2	202073970	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	37607567	202073970	41125403	11	4268											
ANKZF1	55139	broad.mit.edu	37	chr2	220096743	220096743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacttgtgaccagacctTccagaaccaccaagaacagg	7	13	1	4			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:220096743T>C	ENST00000323348.5	+	3	416	c.242T>C	c.(241-243)tTc>tCc	p.F81S	ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron|ATG9A_ENST00000396761.2_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000409618.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	81						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGACCTTCCAGAACCAC	0.438																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(241-243)tTc>tCc		ankyrin repeat and zinc finger domain containing 1							88	87	87					2																	220096743		1888	4109	5997	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220096743T>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.242T>C	2.37:g.220096743T>C	ENSP00000321617:p.Phe81Ser					ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron	p.F81S	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	416	+		Renal(207;0.0474)	81					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.242T>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839907	0.51057	.	.	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034;ENST00000447157;ENST00000436226	T;T;T	0.52754	0.65;0.65;0.65	5.12	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.050567	0.85682	D	0.000000	T	0.66992	0.2846	M	0.92604	3.325	0.53688	D	0.999979	D	0.54601	0.967	P	0.52909	0.713	T	0.75459	-0.3310	10	0.66056	D	0.02	-8.426	11.2524	0.49034	0.0:0.0:0.0:1.0	.	81	Q9H8Y5	ANKZ1_HUMAN	S	81;16;81;81;81	ENSP00000321617:F81S;ENSP00000386337:F81S;ENSP00000399667:F81S	ENSP00000321617:F81S	F	+	2	0	ANKZF1	219804987	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.365000	0.59486	2.150000	0.67090	0.383000	0.25322	TTC		0.438	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		5	338	0	0	0	1	0	5	338					C	220096743	T	C	220096743	3	2	36	1	0	0	0	0	1	0	0	0	693	1783	62	4	248	4	ANKZF1	2	220096743	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	18022773	220096743	23102630	12	4269											
PID1	55022	broad.mit.edu	37	chr2	229890686	229890686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaaacttggaatggccGgatttccaggagggcattgg	15	8	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:229890686G>A	ENST00000354069.6	-	3	445	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000392054.3_Missense_Mutation_p.R137W			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGAATGGCCGGATTTCCAGG	0.567																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(409-411)Cgg>Tgg		phosphotyrosine interaction domain containing 1							94	91	92					2																	229890686		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890686G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.415C>T	2.37:g.229890686G>A	ENSP00000283937:p.Arg139Trp					PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W	p.R137W	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	748	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	139			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.409C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010246	0.75046	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	5.55	0.83447	Pleckstrin homology-type (1);	0.124895	0.56097	D	0.000030	T	0.68622	0.3021	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.968;0.968;0.999;0.998	T	0.64508	-0.6391	8	.	.	.	-10.0864	18.8642	0.92285	0.0:0.0:1.0:0.0	.	57;106;137;139	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	W	137;57;106;139;139	.	.	R	-	1	2	PID1	229598930	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.240000	0.78192	2.768000	0.95171	0.655000	0.94253	CGG		0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		13	250	0	0	0	1	0	13	250					A	229890686	G	A	229890686	3	1	36	1	0	0	0	0	1	0	0	0	11924	1115	39	1	341	1	PID1	2	229890686	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	9793943	229890686	13308687	13	4270											
CNTN6	27255	broad.mit.edu	37	chr3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggtctgaactcGtcattacgtgggaggtaatt	14	6	2	1	rs140014929		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373																																						ENST00000446702.2																			2	Substitution - Missense(2)	p.V718I(2)	large_intestine(1)|pancreas(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2152-2154)Gtc>Atc		contactin 6		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	188	178	182		2152	-0.1	1	3	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	718/1029	1418745	2,13004	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418745G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2152G>A	3.37:g.1418745G>A	ENSP00000407822:p.Val718Ile					CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I	p.V718I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2779	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	718			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2152G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392335	0.42410	2.27E-4	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	-0.13	0.13498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.235772	0.29684	N	0.011465	T	0.40372	0.1114	L	0.43152	1.355	0.44395	D	0.997306	B	0.15930	0.015	B	0.10450	0.005	T	0.20405	-1.0276	10	0.32370	T	0.25	.	11.0846	0.48080	0.3437:0.0:0.6563:0.0	.	718	Q9UQ52	CNTN6_HUMAN	I	718;646;718	ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I	ENSP00000341882:V718I	V	+	1	0	CNTN6	1393745	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.636000	0.54317	0.098000	0.17522	0.655000	0.94253	GTC		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		14	407	0	0	0	1	0	14	407					A	1418745	G	A	1418745	3	1	36	1	0	0	0	0	1	0	0	0	3654	1145	40	1	2214	1	CNTN6	3	1418745	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		1418745	196603685	14	4271											
MST1R	4486	broad.mit.edu	37	chr3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggatggactctttccGcagcagtggcacacaggatt	12	10	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150	144	146					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp					MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			8	712	0	0	0	1	0	8	712					A	49932714	G	A	49932714	3	1	36	1	0	0	0	0	1	0	0	0	9932	1086	38	1	1073	1	MST1R	3	49932714	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	48513969	49932714	148089716	15	4272											
WDR82	80335	broad.mit.edu	37	chr3	52292632	52292632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgggcctgtgtgtttaccatCcaacacagctacttttatac	7	12	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:52292632C>A	ENST00000296490.3	-	8	1113	c.832G>T	c.(832-834)Gat>Tat	p.D278Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	278					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTTACCATCCAACACAGCT	0.448																																						ENST00000296490.3																			0											c.(832-834)Gat>Tat		WD repeat domain 82							171	159	163					3																	52292632		1955	4145	6100	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292632C>A	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.832G>T	3.37:g.52292632C>A	ENSP00000296490:p.Asp278Tyr						p.D278Y	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1113	-			278					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.832G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143216	0.77888	.	.	ENSG00000164091	ENST00000296490	T	0.18502	2.21	5.87	5.87	0.94306	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	0.30103	0.0754	L	0.31065	0.9	0.80722	D	1	P	0.45531	0.86	P	0.57009	0.811	T	0.00708	-1.1600	10	0.66056	D	0.02	-12.5223	20.1957	0.98242	0.0:1.0:0.0:0.0	.	278	Q6UXN9	WDR82_HUMAN	Y	278	ENSP00000296490:D278Y	ENSP00000296490:D278Y	D	-	1	0	WDR82	52267672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GAT		0.448	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		31	485	1	0	1.88708e-17	1	2.03224e-17	31	485					A	52292632	C	A	52292632	3	1	36	1	0	0	0	0	1	0	0	0	17385	855	30	3	117	3	WDR82	3	52292632	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	2359918	52292632	145729798	16	4273											
ROBO2	6092	broad.mit.edu	37	chr3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacattcaacgttccgacgCgggttactacatctgccagg	9	13	2	0	rs199705591		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1156-1158)gCg>gTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							79	78	78					3																	77600066		1933	4145	6078	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77600066C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1157C>T	3.37:g.77600066C>T	ENSP00000417164:p.Ala386Val					ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V|ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V	p.A386V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	8	2057	+			386			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1157C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406025	0.42715	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.49	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000351	T	0.75072	0.3800	L	0.50919	1.6	0.39718	D	0.971425	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.67231	0.938;0.942;0.95	T	0.72398	-0.4306	9	0.26408	T	0.33	.	16.0733	0.80951	0.0:0.866:0.134:0.0	.	402;386;386	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	402;402;406;386;386;107	ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V	ENSP00000327536:A386V	A	+	2	0	ROBO2	77682756	1.000000	0.71417	0.225000	0.23894	0.113000	0.19764	6.001000	0.70685	2.742000	0.94016	0.591000	0.81541	GCG		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	278	0	0	0	1	0	15	278					T	77600066	C	T	77600066	3	4	36	1	0	0	0	0	1	0	0	0	13564	768	27	1	1189	1	ROBO2	3	77600066	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	25307434	77600066	120422364	17	4274											
MED12L	116931	broad.mit.edu	37	chr3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatcctcagtgacaatgCggccaatcgctacagctttg	9	12	1	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:151082925C>T	ENST00000474524.1	+	20	3049	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	MED12L_ENST00000273432.4_Missense_Mutation_p.A864V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1004						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(3010-3012)gCg>gTg		mediator complex subunit 12-like							208	197	201					3																	151082925		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082925C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3011C>T	3.37:g.151082925C>T	ENSP00000417235:p.Ala1004Val					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A864V	p.A1004V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	3049	+			1004					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3011C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446722	0.84101	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.77098	-1.07;-1.07	5.6	5.6	0.85130	.	0.171136	0.52532	D	0.000067	T	0.68952	0.3057	N	0.24115	0.695	0.80722	D	1	P;D;D	0.57571	0.87;0.976;0.98	B;B;B	0.41723	0.358;0.211;0.365	T	0.72849	-0.4168	10	0.49607	T	0.09	-19.482	19.5844	0.95485	0.0:1.0:0.0:0.0	.	864;1003;1004	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1004;864	ENSP00000417235:A1004V;ENSP00000273432:A864V	ENSP00000273432:A864V	A	+	2	0	MED12L	152565615	0.998000	0.40836	0.755000	0.31263	0.995000	0.86356	5.463000	0.66712	2.786000	0.95864	0.650000	0.86243	GCG		0.473	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	781	0	0	0	1	0	7	781					T	151082925	C	T	151082925	3	4	36	1	0	0	0	0	1	0	0	0	9470	768	27	1	3089	1	MED12L	3	151082925	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	73482859	151082925	46939505	18	4275											
SI	6476	broad.mit.edu	37	chr3	164786914	164786914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttataaccatgattatcaaCgaagaagcaccaaggaataa	7	7	1	2	rs149498200		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:164786914C>T	ENST00000264382.3	-	4	387	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	109	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGATTATCAACGAAGAAGCAC	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(325-327)Gtt>Att		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	71	69	70		325	5.9	0.2	3	dbSNP_134	70	0,8600		0,0,4300	no	missense	SI	NM_001041.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	109/1828	164786914	2,13004	2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786914C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.325G>A	3.37:g.164786914C>T	ENSP00000264382:p.Val109Ile	HNSCC(35;0.089)					p.V109I	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			4	387	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	109			P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.325G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146805	0.37923	4.54E-4	0.0	ENSG00000090402	ENST00000264382	D	0.85171	-1.95	5.91	5.91	0.95273	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (3);	0.720617	0.14150	N	0.338066	T	0.82116	0.4967	L	0.57536	1.79	0.09310	N	1	P	0.35363	0.497	B	0.30029	0.11	T	0.77469	-0.2576	10	0.66056	D	0.02	.	13.0201	0.58781	0.2008:0.7992:0.0:0.0	.	109	P14410	SUIS_HUMAN	I	109	ENSP00000264382:V109I	ENSP00000264382:V109I	V	-	1	0	SI	166269608	0.005000	0.15991	0.209000	0.23619	0.343000	0.28985	1.081000	0.30791	2.802000	0.96397	0.655000	0.94253	GTT		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		20	198	0	0	0	1	0	20	198					T	164786914	C	T	164786914	3	4	36	1	0	0	0	0	1	0	0	0	14347	536	19	1	5338	1	SI	3	164786914	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	13703989	164786914	33235516	19	4276											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		8	240						8	240	---	---	---	---	A	89381266	-	A	89381265	7	5	36	1	0	1	1	0	0	0	0	0	7091	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-3A-A9IX-01A-11D-A40W-08		89381265	101773011	20	4277											
FAM71B	153745	broad.mit.edu	37	chr5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatagcaaaagagatcttccCgtgtgtcagaagagggacac	11	8	2	3	rs146865558		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:156592698C>A	ENST00000302938.4	-	1	577	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	161						nucleus (GO:0005634)		p.R161L(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)			GAGATCTTCCCGTGTGTCAGA	0.498																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.R161L(1)	lung(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						c.(481-483)cGg>cTg		family with sequence similarity 71, member B							129	132	131					5																	156592698		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592698C>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.482G>T	5.37:g.156592698C>A	ENSP00000305596:p.Arg161Leu						p.R161L	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	577	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	161					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.482G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888978	0.52014	.	.	ENSG00000170613	ENST00000302938	T	0.17054	2.3	4.56	4.56	0.56223	.	0.345278	0.24813	N	0.035395	T	0.36853	0.0982	M	0.62154	1.92	0.09310	N	1	D	0.65815	0.995	D	0.69479	0.964	T	0.06807	-1.0806	10	0.54805	T	0.06	-3.8761	13.5619	0.61795	0.0:1.0:0.0:0.0	.	161	Q8TC56	FA71B_HUMAN	L	161	ENSP00000305596:R161L	ENSP00000305596:R161L	R	-	2	0	FAM71B	156525276	0.027000	0.19231	0.010000	0.14722	0.624000	0.37722	1.032000	0.30178	2.469000	0.83416	0.655000	0.94253	CGG		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		14	587	1	0	1.15088e-07	1	1.20568e-07	14	587					A	156592698	C	A	156592698	3	1	36	1	0	0	0	0	1	0	0	0	5633	652	23	3	1343	3	FAM71B	5	156592698	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		156592698	24322562	21	4278											
FAM8A1	51439	broad.mit.edu	37	chr6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcgaacagcttatgacaTtgtagcaggaaccattgtgg	10	7	0	1	rs200658703		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1198-1200)aTt>aCt		family with sequence similarity 8, member A1							95	90	91					6																	17608527		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17608527T>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1199T>C	6.37:g.17608527T>C	ENSP00000259963:p.Ile400Thr						p.I400T	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1254	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	400			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1199T>C	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375621	0.82682	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	RDD (1);	0.101193	0.64402	D	0.000002	T	0.72061	0.3414	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.76288	-0.3014	9	0.72032	D	0.01	-7.7083	15.837	0.78805	0.0:0.0:0.0:1.0	.	400	Q9UBU6	FA8A1_HUMAN	T	150;400	.	ENSP00000259963:I400T	I	+	2	0	FAM8A1	17716506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.143000	0.66587	0.455000	0.32223	ATT		0.398	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	367	0	0	0	1	0	5	367					C	17608527	T	C	17608527	3	2	36	1	0	0	0	0	1	0	0	0	5674	1493	52	4	1217	4	FAM8A1	6	17608527	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08		17608527	153506540	22	4279											
BAT3	7917	broad.mit.edu	37	chr6	31617055	31617055	+	Frame_Shift_Del	DEL	G	G	-													ccccaggcccccgagtaccaGggggggatcccccaccatga							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:31617055delG	ENST00000375964.6	-	4	657	c.344delC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000404765.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000375976.4_Frame_Shift_Del_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Del_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Del_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCGAGTACCAGGGGGGGATCC	0.592																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)ctfs		BCL2-associated athanogene 6							88	103	98					6																	31617055		1511	2709	4220	SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617055delG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.344delC	6.37:g.31617055delG	ENSP00000365131:p.Pro115fs					BAG6_ENST00000375976.4_Frame_Shift_Del_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Del_p.P115fs|BAG6_ENST00000375964.6_Frame_Shift_Del_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Del_p.P115fs	p.P115fs			P46379	BAG6_HUMAN			4	633	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Del	DEL	ENST00000375964.6	37	c.344delC	CCDS47403.1																																																																																				0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	483						7	483	---	---	---	---	-	31617055	G	-	31617055	7	5	36	1	0	1	0	1	0	0	0	0	1323	1000	35	0	3142	0	BAT3	6	31617055	Frame_Shift_Del	DEL	G	TCGA-3A-A9IX-01A-11D-A40W-08	14008528	31617055	139498012	23	4280											
GPR116	221395	broad.mit.edu	37	chr6	46830721	46830721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgtaagtgatggtcccGccaatgggactctcagggct	12	10	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:46830721G>A	ENST00000283296.7	-	15	2391	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	701					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGGTCCCGCCAATGGGAC	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2101-2103)ggC>ggT		G protein-coupled receptor 116							104	106	105					6																	46830721		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830721G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2103C>T	6.37:g.46830721G>A						GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000545669.1_Silent_p.G130G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000362015.4_Silent_p.G701G	p.G701G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2391	-			701					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2103C>T	CCDS4919.1																																																																																				0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		6	546	0	0	0	1	0	6	546					A	46830721	G	A	46830721	2	1	36	1	0	0	0	0	0	0	0	1	6662	1074	38	1		1	GPR116	6	46830721	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	15213666	46830721	124284346	24	4281											
SDK1	221935	broad.mit.edu	37	chr7	4119186	4119186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctatgacgggaaaacGtccatctccaggtggattgt	12	10	1	1	rs377121090		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:4119186G>A	ENST00000404826.2	+	22	3433	c.3294G>A	c.(3292-3294)acG>acA	p.T1098T	SDK1_ENST00000389531.3_Silent_p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1098	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGAAAACGTCCATCTCCA	0.572																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3292-3294)acG>acA		sidekick cell adhesion molecule 1							147	127	134					7																	4119186		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4119186G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3294G>A	7.37:g.4119186G>A						SDK1_ENST00000389531.3_Silent_p.T1098T	p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3433	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1098			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3294G>A	CCDS34590.1																																																																																				0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	468	0	0	0	1	0	7	468					A	4119186	G	A	4119186	2	1	36	1	0	0	0	0	0	0	0	1	14018	1132	40	1		1	SDK1	7	4119186	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		4119186	155019477	25	4282											
RELN	5649	broad.mit.edu	37	chr7	103474008	103474008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcacacagcctgtgcccGcaggtggagcaatccagatg	11	12	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:103474008G>A	ENST00000428762.1	-	3	608	c.449C>T	c.(448-450)gCg>gTg	p.A150V	RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	150	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCTGTGCCCGCAGGTGGAGC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(448-450)gCg>gTg		reelin							108	98	101					7																	103474008		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103474008G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.449C>T	7.37:g.103474008G>A	ENSP00000392423:p.Ala150Val					RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	608	-			150			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.449C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172734	0.78452	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28454	1.61;1.61;1.61	5.33	5.33	0.75918	Reeler domain (2);	0.060775	0.64402	D	0.000002	T	0.31513	0.0799	N	0.14661	0.345	0.54753	D	0.999989	D;D	0.56035	0.968;0.974	P;P	0.50708	0.516;0.648	T	0.19549	-1.0302	10	0.72032	D	0.01	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	150;150	P78509-2;P78509	.;RELN_HUMAN	V	150	ENSP00000392423:A150V;ENSP00000345694:A150V;ENSP00000388446:A150V	ENSP00000345694:A150V	A	-	2	0	RELN	103261244	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	5.819000	0.69243	2.634000	0.89283	0.650000	0.86243	GCG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	248	0	0	0	1	0	13	248					A	103474008	G	A	103474008	3	1	36	1	0	0	0	0	1	0	0	0	13270	1087	38	1	10185	1	RELN	7	103474008	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	99354822	103474008	55664655	26	4283											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	156	0	0	0	1	0	4	156					G	114269973	A	G	114269973	2	3	36	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-3A-A9IX-01A-11D-A40W-08	10795965	114269973	44868690	27	4284											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	266						7	266	---	---	---	---	-	114270018	CAG	-	114270016	7	5	36	1	0	1	0	1	0	0	0	0	6054	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-3A-A9IX-01A-11D-A40W-08	43	114270016	44868647	28	4285											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138434008	138434008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgttaaatgtgggaggggCtgttttagattgcactgtgg	15	5	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:138434008C>A	ENST00000310018.2	-	12	1366	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	362					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGAGGGGCTGTTTTAGAT	0.453																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1084-1086)Gcc>Tcc		ATPase, H+ transporting, lysosomal V0 subunit a4							104	105	105					7																	138434008		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138434008C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1084G>T	7.37:g.138434008C>A	ENSP00000308122:p.Ala362Ser					ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S	p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			12	1366	-			362					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1084G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	5.791	0.330340	0.10956	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85629	-2.01;-2.01;-2.01	5.13	4.04	0.47022	.	0.458554	0.21405	N	0.075080	T	0.76572	0.4006	N	0.20445	0.575	0.29415	N	0.860951	B	0.28584	0.216	B	0.34038	0.174	T	0.69412	-0.5152	10	0.25751	T	0.34	-4.7235	14.5017	0.67727	0.0:0.9161:0.0:0.0839	.	362	Q9HBG4	VPP4_HUMAN	S	362	ENSP00000308122:A362S;ENSP00000376774:A362S;ENSP00000253856:A362S	ENSP00000308122:A362S	A	-	1	0	ATP6V0A4	138084548	0.985000	0.35326	0.722000	0.30670	0.078000	0.17371	0.936000	0.28938	2.398000	0.81561	0.561000	0.74099	GCC		0.453	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		9	514	1	0	1.58986e-06	1	1.64322e-06	9	514					A	138434008	C	A	138434008	3	1	36	1	0	0	0	0	1	0	0	0	1171	797	28	3	1482	3	ATP6V0A4	7	138434008	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	24163992	138434008	20704655	29	4286											
CSMD1	64478	broad.mit.edu	37	chr8	3263557	3263557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggactgcaccttcacagCggggcacggtggagctccag	15	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:3263557C>T	ENST00000520002.1	-	16	2816	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R754H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	754	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTTCACAGCGGGGCACGGT	0.532																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2260-2262)cGc>cAc		CUB and Sushi multiple domains 1							48	50	49					8																	3263557		1996	4177	6173	SO:0001583	missense	64478					integral to membrane		g.chr8:3263557C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2261G>A	8.37:g.3263557C>T	ENSP00000430733:p.Arg754His					CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H	p.R754H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2816	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	754			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2261G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.072882	0.93950	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.42008	1.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.65364	-0.6186	10	0.15066	T	0.55	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	754;754	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	H	754;754;616;753;753;753	ENSP00000383047:R754H;ENSP00000430733:R754H;ENSP00000441462:R753H;ENSP00000446243:R753H;ENSP00000441675:R753H	ENSP00000320445:R616H	R	-	2	0	CSMD1	3250964	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.287000	0.78681	2.486000	0.83907	0.591000	0.81541	CGC		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	170	0	0	0	1	0	11	170					T	3263557	C	T	3263557	3	4	36	1	0	0	0	0	1	0	0	0	3955	768	27	1	8660	1	CSMD1	8	3263557	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		3263557	143100465	30	4287											
CDKN2A	1029	broad.mit.edu	37	chr9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-													gaccccgggccgcggccgtgGccagccagtcagccgaaggc					rs587782206		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	206						7	206	---	---	---	---	-	21974780	GCCA	-	21974777	7	5	36	1	0	1	0	1	0	0	0	0	3170	1203	42	0	633	0	CDKN2A	9	21974777	Frame_Shift_Del	DEL	GCCA	TCGA-3A-A9IX-01A-11D-A40W-08		21974777	119238654	31	4288											
FAM120A	23196	broad.mit.edu	37	chr9	96326634	96326634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaaacggagtgatggccGaggagaagccggctccccag	15	11	0	3	rs369844257		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:96326634G>A	ENST00000277165.6	+	18	3363	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1057	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTGATGGCCGAGGAGAAGCC	0.537																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3169-3171)Gag>Aag		family with sequence similarity 120A		G	LYS/GLU	0,4406		0,0,2203	71	80	77		3169	5.3	1	9		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM120A	NM_014612.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1057/1119	96326634	1,13005	2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96326634G>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3169G>A	9.37:g.96326634G>A	ENSP00000277165:p.Glu1057Lys					FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	p.E1057K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			18	3363	+			1057			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.3169G>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013611	0.54468	0.0	1.16E-4	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.47528	1.46;1.44;1.41;0.84	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	T	0.38692	0.1050	N	0.24115	0.695	0.51012	D	0.999903	P;B;P	0.45428	0.858;0.179;0.588	B;B;B	0.40009	0.316;0.024;0.142	T	0.37934	-0.9684	10	0.54805	T	0.06	-19.3722	18.9618	0.92680	0.0:0.0:1.0:0.0	.	1011;1085;1057	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	K	1057;1085;1011;433	ENSP00000277165:E1057K;ENSP00000334918:E1085K;ENSP00000344698:E1011K;ENSP00000412440:E433K	ENSP00000277165:E1057K	E	+	1	0	FAM120A	95366455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.874000	0.63064	2.472000	0.83506	0.591000	0.81541	GAG		0.537	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	476	0	0	0	1	0	7	476					A	96326634	G	A	96326634	3	1	36	1	0	0	0	0	1	0	0	0	5436	1059	37	1	3239	1	FAM120A	9	96326634	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	74351857	96326634	44886797	32	4289											
FNBP1	23048	broad.mit.edu	37	chr9	132662311	132662311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatcatcaaactcgtcGtcaaaatccgtggccagcac	6	15	4	0	rs138991769	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:132662311G>A	ENST00000446176.2	-	15	1806	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	FNBP1_ENST00000355681.3_Silent_p.D511D|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000420781.1_Silent_p.D531D|FNBP1_ENST00000443566.2_Silent_p.D168D	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	540	Interaction with DNM1 and DNM3.|Interaction with PDE6G. {ECO:0000250}.|Interaction with RND2. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CAAACTCGTCGTCAAAATCCG	0.507			T	MLL	AML								G|||	15	0.00299521	0.0113	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(1591-1593)gaC>gaT		formin binding protein 1		G		25,4059		0,25,2017	123	124	124		1620	-4.3	0.2	9	dbSNP_134	124	1,8385		0,1,4192	no	coding-synonymous	FNBP1	NM_015033.2		0,26,6209	AA,AG,GG		0.0119,0.6121,0.2085		540/618	132662311	26,12444	2042	4193	6235	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132662311G>A	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1620C>T	9.37:g.132662311G>A						FNBP1_ENST00000443566.2_Silent_p.D168D|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Silent_p.D540D|FNBP1_ENST00000355681.3_Silent_p.D511D	p.D531D			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	15	1811	-		Ovarian(14;0.000536)	540			Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.1593C>T	CCDS48040.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.682	0.689202	0.14973	0.006121	1.19E-4	ENSG00000187239	ENST00000449089	.	.	.	4.98	-4.27	0.03744	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61608	-0.7028	4	.	.	.	-27.8124	14.3521	0.66711	0.641:0.0:0.359:0.0	.	.	.	.	M	492	.	.	T	-	2	0	FNBP1	131702132	0.000000	0.05858	0.181000	0.23098	0.939000	0.58152	-1.892000	0.01610	-0.781000	0.04548	-0.390000	0.06520	ACG		0.507	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			6	359	0	0	0	1	0	6	359					A	132662311	G	A	132662311	2	1	36	1	0	0	0	0	0	0	0	1	5990	1136	40	1		1	FNBP1	9	132662311	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	36335677	132662311	8551120	33	4290											
CARD9	64170	broad.mit.edu	37	chr9	139265516	139265516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttggagctcagcagcGcggtcaggtcctgcaccttc	11	14	3	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:139265516G>A	ENST00000371732.5	-	4	569	c.404C>T	c.(403-405)gCg>gTg	p.A135V	CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	135					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAGCAGCGCGGTCAGGTC	0.612																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(403-405)gCg>gTg		caspase recruitment domain family, member 9							44	39	41					9																	139265516		2199	4297	6496	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265516G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.404C>T	9.37:g.139265516G>A	ENSP00000360797:p.Ala135Val					CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	4	569	-		Myeloproliferative disorder(178;0.0511)	135					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.404C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	5.443	0.266829	0.10294	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.35421	1.31;1.31;1.31	4.72	1.27	0.21489	.	0.911173	0.09365	N	0.812180	T	0.19446	0.0467	N	0.17838	0.53	0.09310	N	1	B;B;B;B	0.20261	0.043;0.003;0.01;0.01	B;B;B;B	0.14578	0.011;0.008;0.002;0.002	T	0.24657	-1.0154	10	0.30078	T	0.28	-20.6527	2.4605	0.04540	0.297:0.0:0.2608:0.4422	.	31;135;135;135	B4DIK5;Q9H257-2;Q5SXM5;Q9H257	.;.;.;CARD9_HUMAN	V	135	ENSP00000360799:A135V;ENSP00000360797:A135V;ENSP00000323719:A135V	ENSP00000323719:A135V	A	-	2	0	CARD9	138385337	0.000000	0.05858	0.178000	0.23040	0.090000	0.18270	0.365000	0.20348	0.393000	0.25203	-0.253000	0.11424	GCG		0.612	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		11	146	0	0	0	1	0	11	146					A	139265516	G	A	139265516	3	1	36	1	0	0	0	0	1	0	0	0	2659	1087	38	1	1299	1	CARD9	9	139265516	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	6603205	139265516	1947915	34	4291											
RBP3	5949	broad.mit.edu	37	chr10	48389530	48389530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacacccaggacggaggCgtcagcaaaactatcgaagc	10	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:48389530C>T	ENST00000224600.4	-	1	1461	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	450	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGACGGAGGCGTCAGCAAAA	0.617																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1348-1350)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						66	57	60					10																	48389530		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389530C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1348G>A	10.37:g.48389530C>T	ENSP00000224600:p.Ala450Thr						p.A450T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1461	-			450			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1348G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143091	0.37825	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.29	0.51040	Interphotoreceptor retinol-binding (2);	0.373325	0.28296	N	0.015863	T	0.67392	0.2888	N	0.21545	0.675	0.33964	D	0.645929	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	10	0.59425	D	0.04	-20.5537	15.7345	0.77831	0.1457:0.8543:0.0:0.0	.	450	P10745	RET3_HUMAN	T	450	ENSP00000224600:A450T	ENSP00000224600:A450T	A	-	1	0	RBP3	48009536	0.604000	0.26932	0.052000	0.19188	0.192000	0.23643	1.115000	0.31209	2.483000	0.83821	0.561000	0.74099	GCC		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		5	206	0	0	0	1	0	5	206					T	48389530	C	T	48389530	3	4	36	1	0	0	0	0	1	0	0	0	13207	768	27	1	2411	1	RBP3	10	48389530	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		48389530	87145217	35	4292											
OR52M1	119772	broad.mit.edu	37	chr11	4566917	4566917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgcctctgatgatccGcctgcggctgcccctttata	8	16	2	2	rs529200501		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:4566917G>A	ENST00000360213.1	+	1	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATGATCCGCCTGCGGCTG	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.0					ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(496-498)cGc>cAc		olfactory receptor, family 52, subfamily M, member 1							102	103	103					11																	4566917		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566917G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.497G>A	11.37:g.4566917G>A	ENSP00000353343:p.Arg166His						p.R166H	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	497	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	166						Missense_Mutation	SNP	ENST00000360213.1	37	c.497G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315172	0.23908	.	.	ENSG00000197790	ENST00000360213	T	0.00137	8.68	4.98	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.142760	0.32593	N	0.005884	T	0.00144	0.0004	L	0.55834	1.745	0.09310	N	0.999994	B	0.17852	0.024	B	0.16722	0.016	T	0.40979	-0.9534	10	0.62326	D	0.03	.	4.9553	0.14036	0.3208:0.143:0.5362:0.0	.	166	Q8NGK5	O52M1_HUMAN	H	166	ENSP00000353343:R166H	ENSP00000353343:R166H	R	+	2	0	OR52M1	4523493	0.000000	0.05858	0.122000	0.21767	0.864000	0.49448	-1.025000	0.03600	0.389000	0.25086	-0.133000	0.14855	CGC		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		11	423	0	0	0	1	0	11	423					A	4566917	G	A	4566917	3	1	36	1	0	0	0	0	1	0	0	0	11168	1087	38	1	499	1	OR52M1	11	4566917	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		4566917	130439599	36	4293											
PLEKHA7	144100	broad.mit.edu	37	chr11	16872763	16872763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatatttgcggcttatgCgatcctcaggggccacagga	13	9	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:16872763C>T	ENST00000355661.3	-	8	681	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.R224H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGGCTTATGCGATCCTCAGG	0.483																																						ENST00000355661.3																			1	Substitution - Missense(1)	p.R224H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(670-672)cGc>cAc		pleckstrin homology domain containing, family A member 7							105	98	100					11																	16872763		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16872763C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.671G>A	11.37:g.16872763C>T	ENSP00000347883:p.Arg224His					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H	p.R224H			Q6IQ23	PKHA7_HUMAN			8	681	-			224			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.671G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879093	0.17395	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.75821	-0.97;-0.97;-0.97;2.73	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095653	0.64402	D	0.000001	T	0.57021	0.2025	N	0.25094	0.71	0.43047	D	0.99464	B;B	0.23442	0.006;0.085	B;B	0.22880	0.006;0.042	T	0.53725	-0.8398	10	0.02654	T	1	-20.3034	13.6784	0.62469	0.0:0.9262:0.0:0.0738	.	224;224	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	H	224;224;224;118	ENSP00000435389:R224H;ENSP00000347883:R224H;ENSP00000416895:R224H;ENSP00000435806:R118H	ENSP00000347883:R224H	R	-	2	0	PLEKHA7	16829339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.732000	0.55021	2.605000	0.88082	0.655000	0.94253	CGC		0.483	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		5	319	0	0	0	1	0	5	319					T	16872763	C	T	16872763	3	4	36	1	0	0	0	0	1	0	0	0	12103	768	27	1	2758	1	PLEKHA7	11	16872763	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	12305846	16872763	118133753	37	4294											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190613	17190613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actagctattttgtcaaataGttttgccatgtcagtactga	7	7	2	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:17190613G>C	ENST00000265970.7	-	1	675	c.676C>G	c.(676-678)Cta>Gta	p.L226V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	226					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTGTCAAATAGTTTTGCCATG	0.378																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(676-678)Cta>Gta		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						61	58	59					11																	17190613		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190613G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.676C>G	11.37:g.17190613G>C	ENSP00000265970:p.Leu226Val					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.L226V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	675	-			226					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.676C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283209	0.23392	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.68903	-0.36	5.53	4.62	0.57501	.	0.150075	0.46145	N	0.000306	T	0.45458	0.1343	N	0.24115	0.695	0.80722	D	1	P;B	0.36683	0.565;0.058	B;B	0.25884	0.064;0.017	T	0.41395	-0.9511	10	0.30078	T	0.28	-7.8251	10.3363	0.43852	0.0778:0.1736:0.7486:0.0	.	226;226	F5H5W9;O00443	.;P3C2A_HUMAN	V	226	ENSP00000265970:L226V	ENSP00000265970:L226V	L	-	1	2	PIK3C2A	17147189	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.116000	0.50399	1.335000	0.45486	-0.218000	0.12543	CTA		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		5	181	0	0	0	1	0	5	181					C	17190613	G	C	17190613	3	2	36	1	0	0	0	0	1	0	0	0	11951	1020	36	5	4512	5	PIK3C2A	11	17190613	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	317850	17190613	117815903	38	4295											
KCNA4	3739	broad.mit.edu	37	chr11	30033662	30033662	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccagagttttcatttgggtCtcaaagcgtaggcctgacac	11	10	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30033662C>G	ENST00000328224.6	-	2	1797	c.564G>C	c.(562-564)gaG>gaC	p.E188D	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCATTTGGGTCTCAAAGCGTA	0.493																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(562-564)gaG>gaC		potassium voltage-gated channel, shaker-related subfamily, member 4							65	65	65					11																	30033662		2020	4160	6180	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033662C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.564G>C	11.37:g.30033662C>G	ENSP00000328511:p.Glu188Asp						p.E188D	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1797	-			188						Missense_Mutation	SNP	ENST00000328224.6	37	c.564G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967116	0.53507	.	.	ENSG00000182255	ENST00000328224	T	0.78246	-1.16	4.81	3.88	0.44766	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	H	0.96398	3.815	0.58432	D	0.999993	P	0.43938	0.822	B	0.41135	0.348	D	0.85507	0.1195	10	0.87932	D	0	.	9.2552	0.37579	0.0:0.7634:0.0:0.2366	.	188	P22459	KCNA4_HUMAN	D	188	ENSP00000328511:E188D	ENSP00000328511:E188D	E	-	3	2	KCNA4	29990238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.176000	0.31957	1.001000	0.39076	0.561000	0.74099	GAG		0.493	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	279	0	0	0	1	0	11	279					G	30033662	C	G	30033662	3	3	36	1	0	0	0	0	1	0	0	0	8035	912	32	5	1401	5	KCNA4	11	30033662	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	12843049	30033662	104972854	39	4296											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	373						8	373	---	---	---	---	-	30034031	TGG	-	30034029	7	5	36	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-3A-A9IX-01A-11D-A40W-08	367	30034029	104972487	40	4297											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		8	790	0	0	0	1	0	8	790					A	66392698	G	A	66392698	3	1	36	1	0	0	0	0	1	0	0	0	13165	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	36358669	66392698	68613818	41	4298											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	201	0	0	0	1	0	6	201					T	25398284	C	T	25398284	3	4	36	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		25398284	108453611	42	4299											
TROAP	10024	broad.mit.edu	37	chr12	49717988	49717988	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttagaagatctccctttCctccagcaaaatgtcatctc	4	14	4	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:49717988C>T	ENST00000257909.3	+	3	413				TROAP_ENST00000549275.1_Intron|TROAP_ENST00000380327.5_Missense_Mutation_p.P130S|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				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						ATCTCCCTTTCCTCCAGCAAA	0.522																																						ENST00000380327.5																			0				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						c.(388-390)Cct>Tct		trophinin associated protein							73	76	75					12																	49717988		2160	4285	6445	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49717988C>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.337+168C>T	12.37:g.49717988C>T						TROAP_ENST00000551245.1_Intron|TROAP_ENST00000257909.3_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000549534.1_3'UTR	p.P130S	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN			4	488	+			335					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.388C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347924	0.24426	.	.	ENSG00000135451	ENST00000380327	.	.	.	3.26	0.141	0.14811	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.22487	-1.0215	7	0.54805	T	0.06	.	5.4321	0.16458	0.0:0.564:0.0:0.436	.	130	Q6PJU7	.	S	130	.	ENSP00000369684:P130S	P	+	1	0	TROAP	48004255	0.000000	0.05858	0.026000	0.17262	0.093000	0.18481	-0.158000	0.10070	0.020000	0.15106	0.563000	0.77884	CCT		0.522	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		12	245	0	0	0	1	0	12	245					T	49717988	C	T	49717988	1	4	36	0	1	0	0	0	0	0	0	0	16628	855	30	2		2	TROAP	12	49717988	Intron	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	24319704	49717988	84133907	43	4300											
KRT73	319101	broad.mit.edu	37	chr12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-													gttgcacttttatctcatggTttttttggtgggtgagctta							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			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)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				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						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239	258	252			2	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	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.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	834						7	834	---	---	---	---	-	53001991	T	-	53001991	7	5	36	1	0	1	0	1	0	0	0	0	8516	1725	60	0	14	0	KRT73	12	53001991	Frame_Shift_Del	DEL	T	TCGA-3A-A9IX-01A-11D-A40W-08	3284003	53001991	80849904	44	4301											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		8	823	0	0	0	1	0	8	823					A	123780522	G	A	123780522	3	1	36	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	70778531	123780522	10071373	45	4302											
HMGB1	3146	broad.mit.edu	37	chr13	31036851	31036852	+	Splice_Site	INS	-	-	A													aagaggaagaaggccgaactINSaaaaaaaaaattaattttag					rs551442918		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:31036851_31036852insA	ENST00000405805.1	-	4	1237		c.e4-2		HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000399494.1_Splice_Site			P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCCGAACTAAAAAAAAAAT	0.376																																						ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.e4-2		high mobility group box 1																																				SO:0001630	splice_region_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31036851_31036852insA	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.297-2->T	13.37:g.31036861_31036861dupA						HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000341423.5_Splice_Site				P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	1237	-		Lung SC(185;0.0257)						A5D8W9|Q14321|Q5T7C3|Q6IBE1	Splice_Site	INS	ENST00000405805.1	37		CCDS9335.1																																																																																				0.376	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	Intron	9	239						9	239	---	---	---	---	A	31036852	-	A	31036851	8	5	36	1	0	1	1	0	0	0	1	0	7255	1536	53	0	360	0	HMGB1	13	31036851	Splice_Site	INS	-	TCGA-3A-A9IX-01A-11D-A40W-08		31036851	84133027	46	4303											
MBNL2	10150	broad.mit.edu	37	chr13	97999092	97999092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggaaactgtgcccGgggagagaccgactgccgct	15	13	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:97999092G>A	ENST00000376673.3	+	5	1356	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q|MBNL2_ENST00000345429.6_Missense_Mutation_p.R192Q|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	192					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACTGTGCCCGGGGAGAGACC	0.607																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(574-576)cGg>cAg		muscleblind-like splicing regulator 2							70	65	67					13																	97999092		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97999092G>A	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.575G>A	13.37:g.97999092G>A	ENSP00000365861:p.Arg192Gln					MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q	p.R192Q	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		5	1356	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		192					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.122025	0.97300	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.95	5.95	0.96441	Zinc finger, CCCH-type (3);	0.053503	0.85682	D	0.000000	T	0.77308	0.4111	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;P	0.78314	0.991;0.92;0.898	T	0.81185	-0.1048	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	192;192;192	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	Q	192	ENSP00000380726:R192Q;ENSP00000344214:R192Q;ENSP00000267287:R192Q;ENSP00000365861:R192Q	ENSP00000344214:R192Q	R	+	2	0	MBNL2	96797093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.854000	0.99522	2.827000	0.97445	0.650000	0.86243	CGG		0.607	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		11	201	0	0	0	1	0	11	201					A	97999092	G	A	97999092	3	1	36	1	0	0	0	0	1	0	0	0	9395	1116	39	1	589	1	MBNL2	13	97999092	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	66962241	97999092	17170786	47	4304											
TEP1	7011	broad.mit.edu	37	chr14	20858856	20858856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggaaccctttggccaGccagagacagcaggtatttc	10	12	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:20858856G>A	ENST00000262715.5	-	15	2358	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	773					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGGCCAGCCAGAGACAG	0.438																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2317-2319)gCt>gTt		telomerase-associated protein 1							88	82	84					14																	20858856		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20858856G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2318C>T	14.37:g.20858856G>A	ENSP00000262715:p.Ala773Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	p.A773V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	15	2358	-	all_cancers(95;0.00123)	all_lung(585;0.235)	773					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2318C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	4.876	0.162909	0.09287	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.44482	0.96;0.92	4.98	4.09	0.47781	.	0.560122	0.19177	N	0.120783	T	0.28928	0.0718	L	0.45137	1.4	0.80722	D	1	B;B;B	0.20261	0.043;0.008;0.025	B;B;B	0.18263	0.021;0.01;0.009	T	0.04855	-1.0922	10	0.07175	T	0.84	-3.4708	8.5875	0.33666	0.1009:0.0:0.8991:0.0	.	665;123;773	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	V	773;773;665	ENSP00000262715:A773V;ENSP00000452574:A665V	ENSP00000262715:A773V	A	-	2	0	TEP1	19928696	0.995000	0.38212	0.997000	0.53966	0.950000	0.60333	2.649000	0.46656	2.756000	0.94617	0.655000	0.94253	GCT		0.438	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	234	0	0	0	1	0	5	234					A	20858856	G	A	20858856	3	1	36	1	0	0	0	0	1	0	0	0	15811	971	34	2	5729	2	TEP1	14	20858856	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		20858856	86490684	48	4305											
NOVA1	4857	broad.mit.edu	37	chr14	27064659	27064659	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagcttgatggtggctccAgtttctttttgcaactgaac	10	9	1	2	rs115769795	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:27064659A>T	ENST00000344429.5	-	2	240	c.237T>A	c.(235-237)acT>acA	p.T79T	NOVA1_ENST00000267422.7_5'UTR|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000539517.2_Silent_p.T79T|NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000574031.1_Silent_p.T79T	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	79	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTGGCTCCAGTTTCTTTTT	0.423																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(235-237)acT>acA		neuro-oncological ventral antigen 1							165	155	158					14																	27064659		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064659A>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.237T>A	14.37:g.27064659A>T						NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T	p.T79T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	2	554	-			79			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.237T>A	CCDS9635.1																																																																																				0.423	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		6	464	0	0	0	1	0	6	464					T	27064659	A	T	27064659	2	4	36	1	0	0	0	0	0	0	0	1	10596	175	7	5		5	NOVA1	14	27064659	Silent	SNP	A	TCGA-3A-A9IX-01A-11D-A40W-08	6205803	27064659	80284881	49	4306											
PSMC6	5706	broad.mit.edu	37	chr14	53194224	53194224	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattctctacaggtatgttCgcaattcgtgctgatcatga	8	8	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:53194224C>T	ENST00000606149.1	+	14	1075	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	STYX_ENST00000354586.4_5'Flank|PSMC6_ENST00000557557.1_3'UTR|STYX_ENST00000442123.2_5'Flank|PSMC6_ENST00000445930.2_Silent_p.F367F	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(1099-1101)ttC>ttT		proteasome (prosome, macropain) 26S subunit, ATPase, 6							62	56	58					14																	53194224		2203	4300	6503	SO:0001819	synonymous_variant	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53194224C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.1059C>T	14.37:g.53194224C>T						PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR	p.F367F			P62333	PRS10_HUMAN			14	1107	+	Breast(41;0.176)		353					B2R975|P49719|Q6IBU3|Q92524	Silent	SNP	ENST00000606149.1	37	c.1101C>T																																																																																					0.323	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		6	173	0	0	0	1	0	6	173					T	53194224	C	T	53194224	2	4	36	1	0	0	0	0	0	0	0	1	12738	883	31	1		1	PSMC6	14	53194224	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	26129565	53194224	54155316	50	4307											
KCNH5	27133	broad.mit.edu	37	chr14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctaccgccaaggcgcGcagacacccatcgctggcca	10	17	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							82	77	79					14																	63269191		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269191G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1678C>T	14.37:g.63269191G>A	ENSP00000321427:p.Arg560Cys					KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C	p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1946	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1678C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.91038	3.17	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	0.99564	1.0969	10	0.87932	D	0	.	15.7242	0.77740	0.0:0.1373:0.8627:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	560;560;502	ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C	ENSP00000321427:R560C	R	-	1	0	KCNH5	62338944	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	5.628000	0.67791	1.265000	0.44215	0.563000	0.77884	CGC		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		13	338	0	0	0	1	0	13	338					A	63269191	G	A	63269191	3	1	36	1	0	0	0	0	1	0	0	0	8065	1087	38	1	1334	1	KCNH5	14	63269191	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	10074967	63269191	44080349	51	4308											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	9	292						9	292	---	---	---	---	A	75601712	-	A	75601711	8	5	36	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-3A-A9IX-01A-11D-A40W-08	12332520	75601711	31747829	52	4309											
THBS1	7057	broad.mit.edu	37	chr15	39884787	39884787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggactctgactcagacCgcattggagatacctgtgac	11	11	2	4			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:39884787C>T	ENST00000260356.5	+	17	2716	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	851					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGACTCAGACCGCATTGGAGA	0.453																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2551-2553)Cgc>Tgc		thrombospondin 1	Becaplermin(DB00102)						48	42	44					15																	39884787		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884787C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2551C>T	15.37:g.39884787C>T	ENSP00000260356:p.Arg851Cys						p.R851C	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2716	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	851					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2551C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345471	0.82022	.	.	ENSG00000137801	ENST00000260356	D	0.98400	-4.91	5.0	5.0	0.66597	.	0.492001	0.15344	N	0.267319	D	0.98510	0.9503	L	0.58101	1.795	0.58432	D	0.999996	B;D	0.89917	0.151;1.0	B;D	0.63381	0.075;0.914	D	0.99748	1.1017	10	0.66056	D	0.02	-5.5658	18.6342	0.91371	0.0:1.0:0.0:0.0	.	766;851	B4E3J7;P07996	.;TSP1_HUMAN	C	851	ENSP00000260356:R851C	ENSP00000260356:R851C	R	+	1	0	THBS1	37672079	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	6.081000	0.71309	2.474000	0.83562	0.655000	0.94253	CGC		0.453	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		4	94	0	0	0	1	0	4	94					T	39884787	C	T	39884787	3	4	36	1	0	0	0	0	1	0	0	0	15905	652	23	1	2613	1	THBS1	15	39884787	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		39884787	62646605	53	4310											
RHBDF1	64285	broad.mit.edu	37	chr16	108512	108512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatctggcagcgtttccGgtacaggtcgaacttgccaa	12	10	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:108512G>A	ENST00000262316.6	-	18	2537	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	799					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGTTTCCGGTACAGGTCG	0.552																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2395-2397)Cgg>Tgg		rhomboid 5 homolog 1 (Drosophila)							148	160	156					16																	108512		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108512G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2395C>T	16.37:g.108512G>A	ENSP00000262316:p.Arg799Trp						p.R799W	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2537	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	799					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2395C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856054	0.51376	.	.	ENSG00000007384	ENST00000262316	T	0.55930	0.49	5.07	4.11	0.48088	.	0.052909	0.85682	D	0.000000	T	0.53465	0.1798	M	0.81942	2.565	0.80722	D	1	P	0.51449	0.945	B	0.42188	0.379	T	0.60875	-0.7176	10	0.87932	D	0	-26.6161	8.6392	0.33968	0.0821:0.0:0.7579:0.16	.	799	Q96CC6	RHDF1_HUMAN	W	799	ENSP00000262316:R799W	ENSP00000262316:R799W	R	-	1	2	RHBDF1	48512	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.637000	0.83313	1.270000	0.44297	-0.229000	0.12294	CGG		0.552	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		29	551	0	0	0	1	0	29	551					A	108512	G	A	108512	3	1	36	1	0	0	0	0	1	0	0	0	13369	1115	39	1	176	1	RHBDF1	16	108512	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		108512	90246241	54	4311											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		14	3577						14	3577	---	---	---	---	-	28734581	GAG	-	28734579	7	5	36	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-3A-A9IX-01A-11D-A40W-08	28626067	28734579	61620174	55	4312											
SEPHS2	22928	broad.mit.edu	37	chr16	30456632	30456632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctaccaaggggtaaaaGaagtccgtggtctgcaccag	11	10	3	1	rs202134725		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:30456632G>T	ENST00000478753.2	-	1	870	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	139					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGGTAAAAGAAGTCCGTGG	0.602																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(415-417)ttC>ttA		selenophosphate synthetase 2							51	52	52					16																	30456632		2009	4152	6161	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456632G>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.417C>A	16.37:g.30456632G>T	ENSP00000418669:p.Phe139Leu					SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L	p.F139L			Q99611	SPS2_HUMAN			1	870	-			139					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.417C>A		.	.	.	.	.	.	.	.	.	.	G	19.46	3.831271	0.71258	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.28666	1.6;1.6;1.6	5.46	3.49	0.39957	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82056	2.57	0.80722	D	1	P;P	0.40144	0.704;0.582	P;B	0.49085	0.6;0.331	T	0.42531	-0.9446	10	0.62326	D	0.03	-18.3451	6.8368	0.23941	0.2644:0.0:0.7356:0.0	.	139;82	Q99611;F5H8F9	SPS2_HUMAN;.	L	139;82;90;139	ENSP00000418669:F139L;ENSP00000443601:F82L;ENSP00000426234:F139L	ENSP00000390233:F90L	F	-	3	2	SEPHS2	30364133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.645000	0.37238	1.450000	0.47717	0.655000	0.94253	TTC		0.602	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		10	221	1	0	0.000442599	1	0.000448423	10	221					T	30456632	G	T	30456632	3	4	36	1	0	0	0	0	1	0	0	0	14105	933	33	3	933	3	SEPHS2	16	30456632	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	1722053	30456632	59898121	56	4313											
HERPUD1	9709	broad.mit.edu	37	chr16	56973198	56973198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggtcctggtttctccGgttacacaccctatgggtgg	13	12	1	0	rs373182203		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:56973198G>A	ENST00000439977.2	+	5	678	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	HERPUD1_ENST00000344114.4_Intron|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.3_ENST00000565861.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGTTTCTCCGGTTACACACC	0.493			T	ERG	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.001		0.0	False		,,,				2504	0.0					ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(481-483)Ggt>Agt		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		G	SER/GLY,SER/GLY,SER/GLY	0,4396		0,0,2198	170	181	177		478,406,481	5	1	16		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HERPUD1	NM_001010989.1,NM_001010990.1,NM_014685.2	56,56,56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	160/391,136/367,161/392	56973198	1,12995	2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973198G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.481G>A	16.37:g.56973198G>A	ENSP00000409555:p.Gly161Ser					HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR	p.G161S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			5	678	+			161					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.481G>A	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737940	0.49045	0.0	1.16E-4	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.28666	1.6	5.97	5.02	0.67125	.	0.312317	0.37577	N	0.002021	T	0.35008	0.0917	L	0.44542	1.39	0.20074	N	0.999937	D;P;D;P	0.69078	0.997;0.745;0.997;0.751	P;B;P;B	0.54100	0.712;0.067;0.742;0.153	T	0.20773	-1.0265	10	0.08381	T	0.77	-6.0487	14.0339	0.64634	0.0719:0.0:0.9281:0.0	.	161;136;160;161	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	S	160;136;161	ENSP00000369118:G136S	ENSP00000300302:G161S	G	+	1	0	HERPUD1	55530699	0.674000	0.27549	0.967000	0.41034	0.965000	0.64279	2.328000	0.43867	1.527000	0.49086	0.585000	0.79938	GGT		0.493	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			39	803	0	0	0	1	0	39	803					A	56973198	G	A	56973198	3	1	36	1	0	0	0	0	1	0	0	0	7093	1116	39	1	499	1	HERPUD1	16	56973198	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	26516566	56973198	33381555	57	4314											
COQ9	57017	broad.mit.edu	37	chr16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcccttgagtttgtgCccgcccacgggtggacagca	14	14	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						ENST00000262507.6																			2	Substitution - Missense(2)	p.P112S(2)	lung(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(334-336)Ccc>Tcc		coenzyme Q9							107	93	98					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	403	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		10	380	0	0	0	1	0	10	380					T	57486804	C	T	57486804	3	4	36	1	0	0	0	0	1	0	0	0	3760	739	26	2	344	2	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	513606	57486804	32867949	58	4315											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	292						8	292	---	---	---	---	-	67913788	AGC	-	67913786	7	5	36	1	0	1	0	1	0	0	0	0	4924	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-3A-A9IX-01A-11D-A40W-08	10426982	67913786	22440967	59	4316											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-													cgcggacgcgggtgccgggcGggggtgtggaatcaacccac					rs137852790|rs137852791|rs587782705		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:7578475delG	ENST00000269305.4	-	5	644	c.455delC	c.(454-456)ccgfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs	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	153	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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)	ENST00000420246.2		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"		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CM941327	TP53	M		c.(454-456)cgfs	Other conserved DNA damage response genes	tumor protein p53							51	52	52					17																	7578475		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475delG	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.455delC	17.37:g.7578475delG	ENSP00000269305:p.Pro153fs	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_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs	p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	153		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.455delC	CCDS11118.1																																																																																				0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	314						19	314	---	---	---	---	-	7578475	G	-	7578475	7	5	36	1	0	1	0	1	0	0	0	0	16434	1116	39	0	843	0	TP53	17	7578475	Frame_Shift_Del	DEL	G	TCGA-3A-A9IX-01A-11D-A40W-08		7578475	73616735	60	4317											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	497						7	497	---	---	---	---	-	17394707	CAG	-	17394705	7	5	36	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-3A-A9IX-01A-11D-A40W-08	9816230	17394705	63800505	61	4318											
PHF12	57649	broad.mit.edu	37	chr17	27239855	27239855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccggggccagccttgCcggtgtgagaggcctggtag	20	10	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27239855C>T	ENST00000332830.4	-	9	2544	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000577226.1_Silent_p.R578R|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCAGCCTTGCCGGTGTGAGA	0.637																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1732-1734)cgG>cgA		PHD finger protein 12							43	48	46					17																	27239855		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27239855C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1734G>A	17.37:g.27239855C>T						PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.R578R|PHF12_ENST00000268756.3_Silent_p.R578R	p.R578R			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	2080	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		578			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.1734G>A	CCDS32598.1																																																																																				0.637	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		6	328	0	0	0	1	0	6	328					T	27239855	C	T	27239855	2	4	36	1	0	0	0	0	0	0	0	1	11865	726	26	2		2	PHF12	17	27239855	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	9845150	27239855	53955355	62	4319											
CDC27	996	broad.mit.edu	37	chr17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgtttccgtaagaaCtgtctcaggctgtctgtgag	14	8	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V201I(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCCGTAAGAACTGTCTCAGGC	0.338																																						ENST00000066544.3																			2	Substitution - Missense(2)	p.V201I(2)	kidney(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(601-603)Gtt>Att		cell division cycle 27							58	59	59					17																	45234625		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234625C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile					CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I	p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	694	-			201					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.601G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			6	233	0	0	0	1	0	6	233					T	45234625	C	T	45234625	3	4	36	1	0	0	0	0	1	0	0	0	3075	565	20	2	1947	2	CDC27	17	45234625	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	17994770	45234625	35960585	63	4320											
CYB561	1534	broad.mit.edu	37	chr17	61513435	61513435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagggcgatgacgagcGcaaagatgtgcagcagcccg	14	12	0	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:61513435G>A	ENST00000392976.1	-	3	580	c.281C>T	c.(280-282)gCg>gTg	p.A94V	CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000584031.1_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	94	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GATGACGAGCGCAAAGATGTG	0.612																																						ENST00000584031.1																			0				lung(2)|ovary(1)|prostate(1)	4						c.(280-282)gCg>gTg		cytochrome b561							141	118	126					17																	61513435		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61513435G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.281C>T	17.37:g.61513435G>A	ENSP00000376702:p.Ala94Val					CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V	p.A94V			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	3	580	-			94			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.281C>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431165	0.25726	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.34	4.34	0.51931	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.055735	0.64402	D	0.000001	T	0.71500	0.3347	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;0.984	P;D;P;P	0.91635	0.893;0.999;0.827;0.68	T	0.74702	-0.3576	10	0.54805	T	0.06	-16.3975	13.7194	0.62717	0.0:0.0:1.0:0.0	.	94;94;161;94	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	V	94;94;94;94;161	ENSP00000354028:A94V;ENSP00000376702:A94V;ENSP00000376701:A94V;ENSP00000400350:A94V;ENSP00000442773:A161V	ENSP00000354028:A94V	A	-	2	0	CYB561	58867167	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	7.913000	0.87471	2.244000	0.73946	0.561000	0.74099	GCG		0.612	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		5	298	0	0	0	1	0	5	298					A	61513435	G	A	61513435	3	1	36	1	0	0	0	0	1	0	0	0	4130	1087	38	1	490	1	CYB561	17	61513435	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	16278810	61513435	19681775	64	4321											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179	149	159					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		10	287	0	0	0	1	0	10	287					T	48591918	C	T	48591918	3	4	36	1	0	0	0	0	1	0	0	0	14810	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		48591918	29485330	65	4322											
ZNF563	147837	broad.mit.edu	37	chr19	12429760	12429760	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcatagggtttctctccaGtgtgaattcgttcatgatat	8	7	3	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:12429760G>C	ENST00000293725.5	-	4	1284	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCTCTCCAGTGTGAATTCG	0.433																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1078-1080)aCt>aGt		zinc finger protein 563							171	161	164					19																	12429760		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429760G>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1079C>G	19.37:g.12429760G>C	ENSP00000293725:p.Thr360Ser						p.T360S	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1284	-			360					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1079C>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323598	0.41096	.	.	ENSG00000188868	ENST00000293725	T	0.24151	1.87	1.0	-0.365	0.12549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33000	0.0848	L	0.31420	0.93	0.20307	N	0.999919	D	0.76494	0.999	D	0.87578	0.998	T	0.19289	-1.0310	9	0.48119	T	0.1	.	7.6862	0.28542	0.0:0.2674:0.7325:0.0	.	360	Q8TA94	ZN563_HUMAN	S	360	ENSP00000293725:T360S	ENSP00000293725:T360S	T	-	2	0	ZNF563	12290760	0.019000	0.18553	0.588000	0.28705	0.349000	0.29174	0.001000	0.13038	-0.058000	0.13177	0.313000	0.20887	ACT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		6	679	0	0	0	1	0	6	679					C	12429760	G	C	12429760	3	2	36	1	0	0	0	0	1	0	0	0	18047	1029	36	5	355	5	ZNF563	19	12429760	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		12429760	46699223	66	4323											
CCDC130	81576	broad.mit.edu	37	chr19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-													ggaaaagaaaaaagccatccAggaggaggaggagagagacc					rs148655062		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_In_Frame_Del_p.E202del			P13994	CC130_HUMAN	coiled-coil domain containing 130	202					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(592-597)cag>c		coiled-coil domain containing 130																																				SO:0001651	inframe_deletion	81576				response to virus		protein binding	g.chr19:13873132_13873134delAGG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.593_595delAGG	19.37:g.13873141_13873143delAGG	ENSP00000465776:p.Glu202del					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del	p.QE198del			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1096_1098	+			198					Q9BQ72	In_Frame_Del	DEL	ENST00000586600.1	37	c.593_595delAGG	CCDS12296.1																																																																																				0.586	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		9	525						9	525	---	---	---	---	-	13873134	AGG	-	13873132	7	5	36	1	0	1	0	1	0	0	0	0	2773	188	7	0	623	0	CCDC130	19	13873132	In_Frame_Del	DEL	AGG	TCGA-3A-A9IX-01A-11D-A40W-08	1443372	13873132	45255851	67	4324											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		7	547	0	0	0	1	0	7	547					C	20807460	T	C	20807460	3	2	36	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	6934328	20807460	38321523	68	4325											
SLC7A9	11136	broad.mit.edu	37	chr19	33334838	33334838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagcatgtgaccctcccGgcccgccacgtaaatgagtc	10	14	0	3	rs121908484		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:33334838G>A	ENST00000023064.4	-	10	1188	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	333			R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGACCCTCCCGGCCCGCCACG	0.567																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM010449	SLC7A9	M	rs121908484	c.(997-999)Cgg>Tgg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59	54	55	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	997,997	3.2	1	19	dbSNP_133	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC7A9	NM_001126335.1,NM_014270.4	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	333/488,333/488	33334838	2,13004	2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334838G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.997C>T	19.37:g.33334838G>A	ENSP00000023064:p.Arg333Trp					SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W	p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			10	1188	-	Esophageal squamous(110;0.137)		333		R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.997C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484195	0.63962	2.27E-4	1.16E-4	ENSG00000021488	ENST00000023064	D	0.91792	-2.91	5.37	3.17	0.36434	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	M	0.93808	3.46	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98100	1.0414	9	0.87932	D	0	.	13.9854	0.64331	0.0:0.0:0.7234:0.2766	.	333;333	Q53FY4;P82251	.;BAT1_HUMAN	W	333	ENSP00000023064:R333W	ENSP00000023064:R333W	R	-	1	2	SLC7A9	38026678	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	3.879000	0.56138	0.597000	0.29811	-0.182000	0.12963	CGG		0.567	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			5	198	0	0	0	1	0	5	198					A	33334838	G	A	33334838	3	1	36	1	0	0	0	0	1	0	0	0	14755	1115	39	1	482	1	SLC7A9	19	33334838	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	12527378	33334838	25794145	69	4326											
IL28B	282617	broad.mit.edu	37	chr19	39735442	39735442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactaaggcatctttggCcctcttaaaggcctgcagct	8	13	3	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39735442C>T	ENST00000413851.2	-	1	204	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	56					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GCATCTTTGGCCCTCTTAAAG	0.622																																						ENST00000413851.2																			0											c.(166-168)Gcc>Acc		interferon, lambda 3							21	23	23					19																	39735442		2203	4292	6495	SO:0001583	missense	282617							g.chr19:39735442C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.166G>A	19.37:g.39735442C>T	ENSP00000409000:p.Ala56Thr						p.A56T	NM_172139.2	NP_742151.2					1	204	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.166G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817179	0.32145	.	.	ENSG00000197110	ENST00000413851	T	0.36699	1.24	2.97	2.97	0.34412	.	0.260216	0.27509	N	0.019046	T	0.33876	0.0878	M	0.67700	2.07	0.30374	N	0.782632	B	0.25105	0.118	B	0.21360	0.034	T	0.39187	-0.9626	10	0.51188	T	0.08	-6.9809	9.5565	0.39341	0.0:1.0:0.0:0.0	.	56	Q8IZI9	IL28B_HUMAN	T	56	ENSP00000409000:A56T	ENSP00000409000:A56T	A	-	1	0	IL28B	44427282	0.052000	0.20516	0.529000	0.27951	0.663000	0.39108	0.475000	0.22164	1.697000	0.51169	0.194000	0.17425	GCC		0.622	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		4	161	0	0	0	1	0	4	161					T	39735442	C	T	39735442	3	4	36	1	0	0	0	0	1	0	0	0	7713	739	26	2	443	2	IL28B	19	39735442	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	6400604	39735442	19393541	70	4327											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908633	39908653	+	In_Frame_Del	DEL	GAGGGGGTGGCCCCCGGCTAC	GAGGGGGTGGCCCCCGGCTAC	-													gggcgcgttccgaggaggcgGagggggtggcccccggctac							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	ENST00000409794.3	+	9	1821_1841	c.971_991delGAGGGGGTGGCCCCCGGCTAC	c.(970-993)ggagggggtggcccccggctacga>gga	p.GGGPRLR325del	PLEKHG2_ENST00000409797.2_In_Frame_Del_p.GGGPRLR325del|PLEKHG2_ENST00000425673.1_In_Frame_Del_p.GGGPRLR325del|PLEKHG2_ENST00000458508.2_In_Frame_Del_p.GGGPRLR266del|PLEKHG2_ENST00000378550.1_In_Frame_Del_p.GGGPRLR325del	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P286T(1)|p.P328T(1)|p.P269T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGAGGCGGAGGGGGTGGCCCCCGGCTACGAGGGGGTGA	0.661																																						ENST00000425673.1																			3	Substitution - Missense(3)	p.P286T(1)|p.P328T(1)|p.P269T(1)	lung(3)	breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(970-993)gga>g		pleckstrin homology domain containing, family G (with RhoGef domain) member 2																																				SO:0001651	inframe_deletion	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.971_991delGAGGGGGTGGCCCCCGGCTAC	19.37:g.39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	ENSP00000386733:p.Gly325_Arg331del					PLEKHG2_ENST00000409797.2_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000378550.1_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000458508.2_In_Frame_Del_p.GGGGPRLR265del|PLEKHG2_ENST00000409794.3_In_Frame_Del_p.GGGGPRLR324del	p.GGGGPRLR324del			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1296_1316	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		324			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	In_Frame_Del	DEL	ENST00000409794.3	37	c.971_991delGAGGGGGTGGCCCCCGGCTAC	CCDS33022.2																																																																																				0.661	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		8	31						8	31	---	---	---	---	-	39908653	GAGGGGGTGGCCCCCGGCTAC	-	39908633	7	5	36	1	0	1	0	1	0	0	0	0	12111	1174	41	0	1001	0	PLEKHG2	19	39908633	In_Frame_Del	DEL	GAGGGGGTGGCCCCCGGCTAC	TCGA-3A-A9IX-01A-11D-A40W-08	173191	39908633	19220350	71	4328											
CYP2A13	1553	broad.mit.edu	37	chr19	41597726	41597726	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagggctggaggacttcatCgccaagaaggtggagcacaa	14	9	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	AGGACTTCATCGCCAAGAAGG	0.557																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(742-744)atC>atA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						161	122	135					19																	41597726		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597726C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.744C>A	19.37:g.41597726C>A							p.I248I	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			5	744	+			248					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.744C>A	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		7	327	1	0	1.02788e-11	1	1.09168e-11	7	327					A	41597726	C	A	41597726	2	1	36	1	0	0	0	0	0	0	0	1	4172	874	31	3		3	CYP2A13	19	41597726	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	1689093	41597726	17531257	72	4329											
ALDH16A1	126133	broad.mit.edu	37	chr19	49964157	49964157	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctgccctggctgtggGtaaatgatggcctggggggt	17	9	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49964157G>A	ENST00000293350.4	+	5	740		c.e5+1		ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site|ALDH16A1_ENST00000540132.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGCTGTGGGTAAATGATGG	0.557																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.e5+1		aldehyde dehydrogenase 16 family, member A1							88	82	84					19																	49964157		2203	4300	6503	SO:0001630	splice_region_variant	126133						oxidoreductase activity|protein binding	g.chr19:49964157G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.577+1G>A	19.37:g.49964157G>A						ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site		NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	5	740	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)						B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Splice_Site	SNP	ENST00000293350.4	37		CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966777	0.74131	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0276	0.71682	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALDH16A1	54655969	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.134000	0.50538	2.704000	0.92352	0.585000	0.79938	.		0.557	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329	Intron	10	306	0	0	0	1	0	10	306					A	49964157	G	A	49964157	5	1	36	1	0	0	0	0	0	0	1	0	488	1275	44	2	596	2	ALDH16A1	19	49964157	Splice_Site	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	8366431	49964157	9164826	73	4330											
POLD1	5424	broad.mit.edu	37	chr19	50909518	50909518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattccagtccaagcagaCgggccggcgggacaccaagg	13	13	1	1	rs376711125		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50909518C>T	ENST00000440232.2	+	11	1375	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	POLD1_ENST00000595904.1_Missense_Mutation_p.T441M|POLD1_ENST00000599857.1_Missense_Mutation_p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	441					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAAGCAGACGGGCCGGCGG	0.622								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1321-1323)aCg>aTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		C	MET/THR	0,4406		0,0,2203	68	72	70		1322	-2.9	0.7	19		70	2,8598	2.2+/-6.3	0,2,4298	no	missense	POLD1	NM_002691.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	441/1108	50909518	2,13004	2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50909518C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1322C>T	19.37:g.50909518C>T	ENSP00000406046:p.Thr441Met					POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M	p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	11	1375	+		all_neural(266;0.0571)	441					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1322C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	2.450	-0.326515	0.05350	0.0	2.33E-4	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.16073	2.37	4.54	-2.9	0.05648	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.206121	0.46758	N	0.000280	T	0.01835	0.0058	N	0.00061	-2.33	0.23010	N	0.998434	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43196	-0.9406	10	0.02654	T	1	-18.2908	6.7083	0.23262	0.1254:0.5005:0.0:0.3741	.	441;441	E7EVW0;P28340	.;DPOD1_HUMAN	M	441;442	ENSP00000406046:T441M	ENSP00000366129:T442M	T	+	2	0	POLD1	55601330	0.997000	0.39634	0.675000	0.29917	0.992000	0.81027	1.237000	0.32695	-0.404000	0.07610	-0.302000	0.09304	ACG		0.622	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			6	383	0	0	0	1	0	6	383					T	50909518	C	T	50909518	3	4	36	1	0	0	0	0	1	0	0	0	12232	536	19	1	1360	1	POLD1	19	50909518	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	945361	50909518	8219465	74	4331											
ZNF551	90233	broad.mit.edu	37	chr19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgagaaatcctttagccGcaaatttatcctgattcaac	6	9	1	2	rs138423649		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1456-1458)cGc>cAc		zinc finger protein 551		G	HIS/ARG	0,4406		0,0,2203	77	75	76		1409	-3.3	0	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF551	NM_138347.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	470/655	58199100	3,13003	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199100G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1457G>A	19.37:g.58199100G>A	ENSP00000282296:p.Arg486His					ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R486H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1642	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	486					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1457G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.294|4.294	0.053749|0.053749	0.08291|0.08291	0.0|0.0	3.49E-4|3.49E-4	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-3.34|-3.34	0.04943|0.04943	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.615670|.	0.00805|.	U|.	0.001456|.	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.06405	.|0.002	T|T	0.32534|0.32534	-0.9903|-0.9903	7|8	0.19590|0.13108	T|T	0.45|0.6	.|.	6.9251|6.9251	0.24410|0.24410	0.4892:0.0:0.5108:0.0|0.4892:0.0:0.5108:0.0	.|.	.|486	.|Q7Z340	.|ZN551_HUMAN	V|H	102|486;470;269	.|.	ENSP00000437781:A102V|ENSP00000282296:R470H	A|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890912|62890912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-4.824000|-4.824000	0.00181|0.00181	-0.805000|-0.805000	0.04404|0.04404	-0.300000|-0.300000	0.09419|0.09419	GCG|CGC		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		5	455	0	0	0	1	0	5	455					A	58199100	G	A	58199100	3	1	36	1	0	0	0	0	1	0	0	0	18036	1087	38	1	1419	1	ZNF551	19	58199100	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	7289582	58199100	929883	75	4332											
MAVS	57506	broad.mit.edu	37	chr20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccagcccctggcccGttccacccccagggcaagcc	8	22	0	0	rs201823260		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:3844972G>A	ENST00000428216.2	+	6	823	c.695G>A	c.(694-696)cGt>cAt	p.R232H	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	232					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCTGGCCCGTTCCACCCCC	0.622																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(694-696)cGt>cAt		mitochondrial antiviral signaling protein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	71	68	69		272,695	4.7	0.8	20		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAVS	NM_001206491.1,NM_020746.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	91/400,232/541	3844972	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844972G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.695G>A	20.37:g.3844972G>A	ENSP00000401980:p.Arg232His					MAVS_ENST00000416600.2_Missense_Mutation_p.R91H|MAVS_ENST00000358134.6_3'UTR	p.R232H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	823	+			232					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.695G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437866	0.83885	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.55760	0.5;1.96	4.72	4.72	0.59763	.	0.780557	0.11868	N	0.521739	T	0.63450	0.2512	L	0.46157	1.445	0.30885	N	0.731009	D	0.76494	0.999	P	0.61003	0.882	T	0.62243	-0.6895	10	0.59425	D	0.04	-5.5757	13.4262	0.61026	0.0:0.0:1.0:0.0	.	232	Q7Z434	MAVS_HUMAN	H	91;232	ENSP00000413749:R91H;ENSP00000401980:R232H	ENSP00000413749:R91H	R	+	2	0	MAVS	3792972	0.901000	0.30685	0.753000	0.31225	0.997000	0.91878	4.000000	0.57039	2.634000	0.89283	0.650000	0.86243	CGT		0.622	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		6	405	0	0	0	1	0	6	405					A	3844972	G	A	3844972	3	1	36	1	0	0	0	0	1	0	0	0	9379	1145	40	1	713	1	MAVS	20	3844972	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		3844972	59180548	76	4333											
TPTE	7179	broad.mit.edu	37	chr21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaatatgcaacatatctCttctgaaaagcaacagaaat	5	8	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.K373N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	401	1	0	0.00116845	1	0.00117608	6	401					A	10916473	C	A	10916473	3	1	36	1	0	0	0	0	1	0	0	0	16483	912	32	3	502	3	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		10916473	37213422	77	4334											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653400	19653400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatcatggcaatgtcGttgtcctttcttcgcctatt	8	10	2	1	rs148756781		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:19653400G>A	ENST00000284885.3	-	22	2658	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	875	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGCAATGTCGTTGTCCTTTC	0.348																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2623-2625)aaC>aaT		transmembrane protease, serine 15		G		2,4404	4.2+/-10.8	0,2,2201	201	190	194		2625	0.3	0.2	21	dbSNP_134	194	0,8600		0,0,4300	no	coding-synonymous	TMPRSS15	NM_002772.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		875/1020	19653400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653400G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2625C>T	21.37:g.19653400G>A							p.N875N	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			22	2658	-			875			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2625C>T	CCDS13571.1																																																																																				0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	606	0	0	0	1	0	7	606					A	19653400	G	A	19653400	2	1	36	1	0	0	0	0	0	0	0	1	16298	1136	40	1		1	TMPRSS15	21	19653400	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	8736927	19653400	28476495	78	4335											
KCNJ6	3763	broad.mit.edu	37	chr21	39087258	39087258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctccctcacgttgcCgtgatgaacattgcactttc	8	12	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:39087258C>T	ENST00000609713.1	-	3	791	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	68					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCACGTTGCCGTGATGAACA	0.488																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(202-204)Ggc>Agc		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						262	246	251					21																	39087258		2047	4181	6228	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087258C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.202G>A	21.37:g.39087258C>T	ENSP00000477437:p.Gly68Ser					KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	p.G68S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	791	-			68					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.202G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941544	0.73557	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.93659	-3.26;-3.26	5.95	5.95	0.96441	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94767	0.7941	10	0.33141	T	0.24	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	68	P48051	IRK6_HUMAN	S	68	ENSP00000383330:G68S;ENSP00000288309:G68S	ENSP00000288309:G68S	G	-	1	0	KCNJ6	38009128	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGC		0.488	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		23	560	0	0	0	1	0	23	560					T	39087258	C	T	39087258	3	4	36	1	0	0	0	0	1	0	0	0	8085	652	23	1	1077	1	KCNJ6	21	39087258	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	19433858	39087258	9042637	79	4336											
COL6A2	1292	broad.mit.edu	37	chr21	47549129	47549129	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaccgtggcctggcggCgagcccccggtcaccttcct	13	17	1	0	rs537764742		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:47549129C>T	ENST00000300527.4	+	27	2565				COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.G827G|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000357838.4_Silent_p.G827G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCTGGCGGCGAGCCCCCGG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14220	0.0		0.0	False		,,,				2504	0.0					ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2479-2481)ggC>ggT		collagen, type VI, alpha 2							55	60	59					21																	47549129		2201	4299	6500	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549129C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2461+2674C>T	21.37:g.47549129C>T						COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.G827G	p.G827G	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2563	+	Breast(49;0.245)		564			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2481C>T	CCDS13728.1																																																																																				0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	494	0	0	0	1	0	9	494					T	47549129	C	T	47549129	1	4	36	0	1	0	0	0	0	0	0	0	3709	755	27	1		1	COL6A2	21	47549129	Intron	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	8461871	47549129	580766	80	4337											
WWC3	55841	broad.mit.edu	37	chrX	10102530	10102530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagccagcctcgtgaAggagcggcccagccgccggg	16	14	0	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:10102530A>G	ENST00000380861.4	+	19	3048	c.2657A>G	c.(2656-2658)aAg>aGg	p.K886R	WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	886					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCTCGTGAAGGAGCGGCCC	0.547																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2656-2658)aAg>aGg		WWC family member 3							103	108	106					X																	10102530		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10102530A>G	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2657A>G	X.37:g.10102530A>G	ENSP00000370242:p.Lys886Arg					WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			19	3048	+			886					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2657A>G	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002383	0.74932	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.58060	0.36;0.36	5.71	5.71	0.89125	.	0.089123	0.85682	D	0.000000	T	0.66723	0.2818	M	0.86651	2.83	0.54753	D	0.999982	P	0.47106	0.89	P	0.48304	0.573	T	0.72646	-0.4230	9	.	.	.	-38.9372	15.0307	0.71705	1.0:0.0:0.0:0.0	.	886	Q9ULE0	WWC3_HUMAN	R	886;886;381	ENSP00000370242:K886R;ENSP00000399584:K886R	.	K	+	2	0	WWC3	10062530	1.000000	0.71417	0.957000	0.39632	0.066000	0.16364	8.837000	0.92110	1.932000	0.55993	0.425000	0.28330	AAG		0.547	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		45	367	0	0	0	1	0	45	367					G	10102530	A	G	10102530	3	3	36	1	0	0	0	0	1	0	0	0	17467	72	3	4	2727	4	WWC3	23	10102530	Missense_Mutation	SNP	A	TCGA-3A-A9IX-01A-11D-A40W-08		10102530	145168030	81	4338											
BRWD3	254065	broad.mit.edu	37	chrX	79971717	79971717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataaagactgatttctatgTcaccttttgcagttcgacat	6	8	2	2	rs146207659		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971717T>A	ENST00000373275.4	-	20	2480	c.2264A>T	c.(2263-2265)gAc>gTc	p.D755V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	755					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GATTTCTATGTCACCTTTTGC	0.323																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2263-2265)gAc>gTc		bromodomain and WD repeat domain containing 3							178	152	161					X																	79971717		2202	4300	6502	SO:0001583	missense	254065							g.chrX:79971717T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2264A>T	X.37:g.79971717T>A	ENSP00000362372:p.Asp755Val					BRWD3_ENST00000473691.1_5'UTR	p.D755V	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			20	2480	-			755					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2264A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388054	0.82902	.	.	ENSG00000165288	ENST00000373275	T	0.32753	1.44	5.17	5.17	0.71159	.	0.093262	0.64402	D	0.000001	T	0.39384	0.1076	L	0.46614	1.455	0.80722	D	1	P	0.52692	0.955	P	0.52793	0.709	T	0.10405	-1.0631	9	.	.	.	-18.5315	14.1257	0.65219	0.0:0.0:0.0:1.0	.	755	Q6RI45	BRWD3_HUMAN	V	755	ENSP00000362372:D755V	.	D	-	2	0	BRWD3	79858373	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.301000	0.72782	1.910000	0.55303	0.441000	0.28932	GAC		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	201	0	0	0	1	0	15	201					A	79971717	T	A	79971717	3	1	36	1	0	0	0	0	1	0	0	0	1530	1667	58	5	3232	5	BRWD3	23	79971717	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	69869187	79971717	75298843	82	4339			1	6		2	2	22	T		5.901612e-05
BRWD3	254065	broad.mit.edu	37	chrX	79971738	79971738	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccttttgcagttcgacatTcttcctgtaccctaataaca	4	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971738T>A	ENST00000373275.4	-	20	2459	c.2243A>T	c.(2242-2244)gAa>gTa	p.E748V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTCGACATTCTTCCTGTAC	0.299																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2242-2244)gAa>gTa		bromodomain and WD repeat domain containing 3							148	127	134					X																	79971738		2202	4298	6500	SO:0001583	missense	254065							g.chrX:79971738T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2243A>T	X.37:g.79971738T>A	ENSP00000362372:p.Glu748Val					BRWD3_ENST00000473691.1_5'UTR	p.E748V	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			20	2459	-			748					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2243A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715517	0.48622	.	.	ENSG00000165288	ENST00000373275	T	0.32515	1.45	5.17	5.17	0.71159	.	0.046697	0.85682	D	0.000000	T	0.36331	0.0963	M	0.74258	2.255	0.48762	D	0.999702	B	0.27068	0.167	B	0.29598	0.104	T	0.15636	-1.0430	9	.	.	.	-9.7094	14.1257	0.65219	0.0:0.0:0.0:1.0	.	748	Q6RI45	BRWD3_HUMAN	V	748	ENSP00000362372:E748V	.	E	-	2	0	BRWD3	79858394	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.488000	0.60300	1.910000	0.55303	0.441000	0.28932	GAA		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	177	0	0	0	1	0	15	177					A	79971738	T	A	79971738	3	1	36	1	0	0	0	0	1	0	0	0	1530	1783	62	5	3253	5	BRWD3	23	79971738	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	21	79971738	75298822	83	4340			1	6		2	2	22	T		5.901612e-05
CENPI	2491	broad.mit.edu	37	chrX	100357364	100357364	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttagcttcagaagaaattGatattctattaaatattgca	7	4	2	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:100357364G>T	ENST00000372927.1	+	3	605	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	110					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGAAATTGATATTCTATT	0.313																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(328-330)Gat>Tat		centromere protein I							105	110	109					X																	100357364		2203	4299	6502	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100357364G>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.328G>T	X.37:g.100357364G>T	ENSP00000362018:p.Asp110Tyr					CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			3	605	+			110					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.328G>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375305	0.42105	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	.	0.166479	0.56097	D	0.000022	T	0.72145	0.3424	M	0.73598	2.24	0.41511	D	0.988343	P;P	0.36144	0.539;0.539	P;P	0.48704	0.587;0.587	T	0.74780	-0.3549	9	0.54805	T	0.06	-13.5932	12.7388	0.57239	0.0:0.1604:0.8396:0.0	.	110;110	B4DZL4;Q92674	.;CENPI_HUMAN	Y	110	.	ENSP00000218507:D110Y	D	+	1	0	CENPI	100244020	0.915000	0.31059	1.000000	0.80357	0.481000	0.33189	2.439000	0.44846	2.276000	0.75962	0.538000	0.68166	GAT		0.313	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		8	388	1	0	0.000157383	1	0.00016051	8	388					T	100357364	G	T	100357364	3	4	36	1	0	0	0	0	1	0	0	0	3242	1290	45	3	334	3	CENPI	23	100357364	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	20385626	100357364	54913196	84	4341											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	768						7	768	---	---	---	---	-	140994641	CTC	-	140994639	7	5	36	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-3A-A9IX-01A-11D-A40W-08	40637275	140994639	14275921	85	4342											
AFF2	2334	broad.mit.edu	37	chrX	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-													aacaagaccgtagtgcacttAaaaaaagggaatgggagcgg							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aaafs	p.K27fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCACTTAAAAAAAGGGA	0.378																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(76-78)aafs		AF4/FMR2 family, member 2							178	171	173					X																	147733548		2203	4300	6503	SO:0001589	frameshift_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733548delA	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.76delA	X.37:g.147733548delA	ENSP00000359489:p.Lys27fs					AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs	p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	555	+	Acute lymphoblastic leukemia(192;6.56e-05)		27					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Frame_Shift_Del	DEL	ENST00000370460.2	37	c.76delA	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	598						7	598	---	---	---	---	-	147733548	A	-	147733548	7	5	36	1	0	1	0	1	0	0	0	0	357	363	13	0	82	0	AFF2	23	147733548	Frame_Shift_Del	DEL	A	TCGA-3A-A9IX-01A-11D-A40W-08	6738909	147733548	7537012	86	4343											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	164	0	0	0	1	0	6	164					A	150156360	G	A	150156360	2	1	36	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	2422812	150156360	5114200	87	4344											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)			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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	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	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	372						7	372	---	---	---	---	-	6680071	GAA	-	6680069	7	5	37	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-3A-A9IZ-01A-12D-A40W-08		6680069	242570552	1	4345											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887282	12887282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagcttctgaagattcCtcaagtggcccaggtatggg	13	9	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:12887282C>T	ENST00000535591.1	-	3	770	c.575G>A	c.(574-576)aGg>aAg	p.R192K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	192					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGAAGATTCCTCAAGTGGCC	0.498																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(574-576)aGg>aAg		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887282C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.575G>A	1.37:g.12887282C>T	ENSP00000439551:p.Arg192Lys						p.R192K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	770	-			192						Missense_Mutation	SNP	ENST00000535591.1	37	c.575G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.936865	0.00484	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.13657	2.57;2.57	1.48	-2.38	0.06622	.	0.968557	0.08552	N	0.928809	T	0.06188	0.0160	L	0.28192	0.835	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.42258	-0.9462	10	0.02654	T	1	.	1.984	0.03433	0.2605:0.3194:0.0:0.4201	.	192	O60813	PRA11_HUMAN	K	192;233;192	ENSP00000439551:R192K;ENSP00000391839:R192K	ENSP00000328783:R233K	R	-	2	0	PRAMEF11	12809869	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.133000	0.00589	-0.748000	0.04753	-0.498000	0.04607	AGG		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		408	472	0	0	0	1	0	408	472					T	12887282	C	T	12887282	3	4	37	1	0	0	0	0	1	0	0	0	12474	681	24	2	743	2	PRAMEF11	1	12887282	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	6207213	12887282	236363339	2	4346											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957115	33957115	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccatcagagccacagaTggcccaggagaggccgtggc	14	13	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:33957115T>C	ENST00000361328.3	+	6	1410	c.1257T>C	c.(1255-1257)gaT>gaC	p.D419D	ZSCAN20_ENST00000373413.2_Silent_p.D365D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	419					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCCACAGATGGCCCAGGAG	0.607																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1255-1257)gaT>gaC		zinc finger and SCAN domain containing 20							56	63	61					1																	33957115		1931	4133	6064	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33957115T>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1257T>C	1.37:g.33957115T>C						ZSCAN20_ENST00000373413.2_Silent_p.D365D	p.D419D	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			6	1410	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	419					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.1257T>C	CCDS41300.1																																																																																				0.607	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		54	162	0	0	0	1	0	54	162					C	33957115	T	C	33957115	2	2	37	1	0	0	0	0	0	0	0	1	18285	1461	51	4		4	ZSCAN20	1	33957115	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	21069833	33957115	215293506	3	4347											
CSMD2	114784	broad.mit.edu	37	chr1	34383705	34383705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttaccagagggaggAgccttctgtcccagtgactt	12	10	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:34383705A>T	ENST00000373381.4	-	5	1086	c.910T>A	c.(910-912)Tcc>Acc	p.S304T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				CAGAGGGAGGAGCCTTCTGTC	0.537																																						ENST00000373381.4																			0				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						c.(910-912)Tcc>Acc		CUB and Sushi multiple domains 2							95	84	88					1																	34383705		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34383705A>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.910T>A	1.37:g.34383705A>T	ENSP00000362479:p.Ser304Thr						p.S304T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			5	1086	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	264			CUB 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.910T>A		.	.	.	.	.	.	.	.	.	.	A	10.17	1.276798	0.23307	.	.	ENSG00000121904	ENST00000373381	D	0.87650	-2.28	5.48	4.36	0.52297	CUB (5);	0.072866	0.56097	D	0.000029	T	0.80237	0.4586	N	0.20483	0.58	0.80722	D	1	P;B	0.36183	0.542;0.354	P;B	0.44921	0.464;0.183	T	0.74668	-0.3588	10	0.14656	T	0.56	.	10.0631	0.42286	0.9216:0.0:0.0784:0.0	.	264;304	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	304	ENSP00000362479:S304T	ENSP00000241312:S264T	S	-	1	0	CSMD2	34156292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.738000	0.55067	2.095000	0.63458	0.391000	0.25812	TCC		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		37	121	0	0	0	1	0	37	121					T	34383705	A	T	34383705	3	4	37	1	0	0	0	0	1	0	0	0	3956	304	11	5	9933	5	CSMD2	1	34383705	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	426590	34383705	214866916	4	4348											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	326						7	326	---	---	---	---	-	44447009	AGC	-	44447007	7	5	37	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-3A-A9IZ-01A-12D-A40W-08	10063302	44447007	204803614	5	4349											
NRD1	4898	broad.mit.edu	37	chr1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatcgaaagccttcaacGtaaagtccgtggctaataaa	9	9	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2206-2208)aCg>aTg		nardilysin (N-arginine dibasic convertase)							111	111	111					1																	52272573		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52272573G>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2207C>T	1.37:g.52272573G>A	ENSP00000346890:p.Thr736Met					NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR	p.T736M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			20	2396	-			667					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2207C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463744	0.12402	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.1	2.01	0.26516	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.222182	0.47093	N	0.000260	T	0.24122	0.0584	M	0.74647	2.275	0.44702	D	0.997694	P;B;B	0.35780	0.52;0.198;0.198	B;B;B	0.26614	0.071;0.032;0.032	T	0.03795	-1.1003	10	0.41790	T	0.15	-0.2231	10.2689	0.43470	0.2059:0.0:0.7941:0.0	.	668;667;736	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	668;736;604;668;536	ENSP00000262679:T668M;ENSP00000346890:T736M;ENSP00000444416:T604M;ENSP00000442262:T536M	ENSP00000262679:T668M	T	-	2	0	NRD1	52045161	0.991000	0.36638	0.275000	0.24674	0.087000	0.18053	3.724000	0.54962	0.106000	0.17784	-0.237000	0.12165	ACG		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		5	449	0	0	0	1	0	5	449					A	52272573	G	A	52272573	3	1	37	1	0	0	0	0	1	0	0	0	10687	1145	40	1	1508	1	NRD1	1	52272573	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	7825566	52272573	196978048	6	4350											
ZCCHC11	23318	broad.mit.edu	37	chr1	52933891	52933891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacttttccaagccaattAaaatttgctccctgttgtgt	5	9	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52933891A>G	ENST00000371544.3	-	15	3189	c.2927T>C	c.(2926-2928)tTa>tCa	p.L976S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	976					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAAGCCAATTAAAATTTGCTC	0.308																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2926-2928)tTa>tCa		zinc finger, CCHC domain containing 11							64	62	62					1																	52933891		2203	4293	6496	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52933891A>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2927T>C	1.37:g.52933891A>G	ENSP00000360599:p.Leu976Ser					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S|ZCCHC11_ENST00000371541.1_5'UTR	p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			15	3189	-			976					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2927T>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157006	0.78114	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.48	5.48	0.80851	.	0.076139	0.53938	D	0.000052	T	0.66346	0.2780	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.946;0.999	T	0.64980	-0.6279	10	0.34782	T	0.22	.	15.5436	0.76077	1.0:0.0:0.0:0.0	.	735;976	E9PKX1;Q5TAX3	.;TUT4_HUMAN	S	976;976;905;735	ENSP00000257177:L976S;ENSP00000360599:L976S;ENSP00000433486:L905S;ENSP00000435256:L735S	ENSP00000257177:L976S	L	-	2	0	ZCCHC11	52706479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.076000	0.62316	0.378000	0.23410	TTA		0.308	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		4	226	0	0	0	1	0	4	226					G	52933891	A	G	52933891	3	3	37	1	0	0	0	0	1	0	0	0	17633	372	13	4	2074	4	ZCCHC11	1	52933891	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	661318	52933891	196316730	7	4351											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77528872	77528872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgctataaatcatcctgAgaataaacctgtgttctaag	6	8	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:77528872A>G	ENST00000477717.1	+	5	1227	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	331					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AATCATCCTGAGAATAAACCT	0.433																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(991-993)gAg>gGg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							90	85	86					1																	77528872		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77528872A>G		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.992A>G	1.37:g.77528872A>G	ENSP00000417583:p.Glu331Gly						p.E331G	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			5	1227	+			331					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.992A>G	CCDS673.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826269	0.32329	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.34667	1.35	5.93	5.93	0.95920	.	0.501717	0.22376	N	0.060873	T	0.14960	0.0361	L	0.36672	1.1	0.36892	D	0.889957	B	0.21606	0.058	B	0.23419	0.046	T	0.08146	-1.0736	10	0.23302	T	0.38	-11.5623	11.4604	0.50206	0.8657:0.0:0.0:0.1343	.	331	Q9BVH7	SIA7E_HUMAN	G	331;241	ENSP00000417583:E331G	ENSP00000406658:E241G	E	+	2	0	ST6GALNAC5	77301460	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.139000	0.50577	2.267000	0.75376	0.533000	0.62120	GAG		0.433	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		68	195	0	0	0	1	0	68	195					G	77528872	A	G	77528872	3	3	37	1	0	0	0	0	1	0	0	0	15279	304	11	4	1010	4	ST6GALNAC5	1	77528872	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	24594981	77528872	171721749	8	4352											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		8	615						8	615	---	---	---	---	T	110300580	-	T	110300579	7	5	37	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	32771707	110300579	138950042	9	4353											
DENND2D	79961	broad.mit.edu	37	chr1	111730759	111730759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gactgttactgtacctgcagGaggattcttgctcttctcgg	11	10	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:111730759G>C	ENST00000357640.4	-	11	1562	c.1333C>G	c.(1333-1335)Cct>Gct	p.P445A	DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	445					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTACCTGCAGGAGGATTCTTG	0.468																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1333-1335)Cct>Gct		DENN/MADD domain containing 2D							66	65	65					1																	111730759		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730759G>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1333C>G	1.37:g.111730759G>C	ENSP00000350266:p.Pro445Ala					DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	p.P445A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1562	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	445					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1333C>G	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180963	0.06380	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.12569	2.67;2.67	5.76	5.76	0.90799	.	0.169277	0.52532	D	0.000071	T	0.02380	0.0073	N	0.14661	0.345	0.27874	N	0.939913	B;B	0.34015	0.43;0.435	B;B	0.30179	0.112;0.057	T	0.32214	-0.9915	10	0.02654	T	1	-14.1137	15.8146	0.78589	0.0:0.0:1.0:0.0	.	442;445	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	A	445;442	ENSP00000350266:P445A;ENSP00000358767:P442A	ENSP00000350266:P445A	P	-	1	0	DENND2D	111532282	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.599000	0.61076	2.882000	0.98803	0.655000	0.94253	CCT		0.468	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		9	302	0	0	0	1	0	9	302					C	111730759	G	C	111730759	3	2	37	1	0	0	0	0	1	0	0	0	4447	1174	41	5	90	5	DENND2D	1	111730759	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	1430180	111730759	137519862	10	4354											
NGF	4803	broad.mit.edu	37	chr1	115828736	115828736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacacacacacaggcCgtatctatccggataaaccg	8	14	1	1	rs565497625		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:115828736C>T	ENST00000369512.2	-	3	849	c.681G>A	c.(679-681)acG>acA	p.T227T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	227					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACACACAGGCCGTATCTATCC	0.587																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(679-681)acG>acA		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						71	75	73					1																	115828736		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828736C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.681G>A	1.37:g.115828736C>T						RP4-663N10.1_ENST00000425449.1_RNA	p.T227T	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	849	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	227					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.681G>A	CCDS882.1																																																																																				0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		14	337	0	0	0	1	0	14	337					T	115828736	C	T	115828736	2	4	37	1	0	0	0	0	0	0	0	1	10437	639	23	1		1	NGF	1	115828736	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	4097977	115828736	133421885	11	4355											
FLG	2312	broad.mit.edu	37	chr1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatgactggctgtatcgCggtgagaggatccggggtgt	17	7	0	2	rs554551056		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152275642C>T	ENST00000368799.1	-	3	11755	c.11720G>A	c.(11719-11721)cGc>cAc	p.R3907H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	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)			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)			GGCTGTATCGCGGTGAGAGGA	0.502									Ichthyosis				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				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						c.(11719-11721)cGc>cAc		filaggrin							96	96	96					1																	152275642		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.chr1:152275642C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11720G>A	1.37:g.152275642C>T	ENSP00000357789:p.Arg3907His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3907H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11755	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11720G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164938	0.06502	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.27	-4.54	0.03452	.	.	.	.	.	T	0.00210	0.0006	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	9	0.39692	T	0.17	.	4.5721	0.12216	0.1364:0.5422:0.1378:0.1835	.	3907	P20930	FILA_HUMAN	H	3907	ENSP00000357789:R3907H	ENSP00000357789:R3907H	R	-	2	0	FLG	150542266	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	-3.346000	0.00182	-3.949000	0.00015	CGC		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		20	283	0	0	0	1	0	20	283					T	152275642	C	T	152275642	3	4	37	1	0	0	0	0	1	0	0	0	5947	768	27	1	469	1	FLG	1	152275642	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	36446906	152275642	96974979	12	4356											
FLG	2312	broad.mit.edu	37	chr1	152282178	152282178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactgactgtgtgtctgaCtcttctgagtgtccctcgct	10	12	3	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152282178C>A	ENST00000368799.1	-	3	5219	c.5184G>T	c.(5182-5184)gaG>gaT	p.E1728D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1728	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)			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)			GTGTGTCTGACTCTTCTGAGT	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(5182-5184)gaG>gaT		filaggrin							223	222	223					1																	152282178		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.chr1:152282178C>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.5184G>T	1.37:g.152282178C>A	ENSP00000357789:p.Glu1728Asp					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1728D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5219	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1728			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5184G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187332	0.01620	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	3.81	-4.15	0.03881	.	.	.	.	.	T	0.00073	0.0002	N	0.00690	-1.25	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27606	-1.0069	9	0.12103	T	0.63	.	1.4188	0.02307	0.3032:0.163:0.4043:0.1295	.	1728	P20930	FILA_HUMAN	D	1728	ENSP00000357789:E1728D	ENSP00000357789:E1728D	E	-	3	2	FLG	150548802	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.340000	0.00506	-1.071000	0.03145	-1.906000	0.00525	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		345	891	1	0	2.13307e-120	1	2.32128e-120	345	891					A	152282178	C	A	152282178	3	1	37	1	0	0	0	0	1	0	0	0	5947	564	20	3	7005	3	FLG	1	152282178	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	6536	152282178	96968443	13	4357											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	218	0	0	0	1	0	5	218					T	153907309	C	T	153907309	2	4	37	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	1625131	153907309	95343312	14	4358											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		4	41	0	0	0	1	0	4	41					G	156777073	T	G	156777073	3	3	37	1	0	0	0	0	1	0	0	0	14282	1696	59	4	106	4	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	2869764	156777073	92473548	15	4359											
TBX19	9095	broad.mit.edu	37	chr1	168262442	168262442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatagtgcgtgttggaagtGcccatcgaatggtaacaaac	11	8	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168262442G>C	ENST00000367821.3	+	3	580	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	177					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTTGGAAGTGCCCATCGAAT	0.463																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(529-531)Gcc>Ccc		T-box 19							128	108	115					1																	168262442		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168262442G>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.529G>C	1.37:g.168262442G>C	ENSP00000356795:p.Ala177Pro						p.A177P	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			3	580	+	all_hematologic(923;0.215)		177					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.529G>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.307|2.307	-0.358921|-0.358921	0.05138|0.05138	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88124|.	-2.34|.	5.02|5.02	0.2|0.2	0.15181|0.15181	p53-like transcription factor, DNA-binding (1);|.	0.552786|.	0.18396|.	N|.	0.142516|.	T|T	0.02230|0.02230	0.0069|0.0069	N|N	0.02420|0.02420	-0.555|-0.555	.|.	.|.	.|.	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.40683|0.40683	-0.9550|-0.9550	9|4	0.27785|.	T|.	0.31|.	.|.	0.0479|0.0479	0.00011|0.00011	0.2718:0.1897:0.2341:0.3044|0.2718:0.1897:0.2341:0.3044	.|.	177;108|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	P|S	177;117|109	ENSP00000356795:A177P|.	ENSP00000356795:A177P|.	A|C	+|+	1|2	0|0	TBX19|TBX19	166529066|166529066	0.000000|0.000000	0.05858|0.05858	0.588000|0.588000	0.28705|0.28705	0.461000|0.461000	0.32589|0.32589	0.244000|0.244000	0.18124|0.18124	0.447000|0.447000	0.26695|0.26695	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.463	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		9	363	0	0	0	1	0	9	363					C	168262442	G	C	168262442	3	2	37	1	0	0	0	0	1	0	0	0	15706	1319	46	5	539	5	TBX19	1	168262442	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	11485369	168262442	80988179	16	4360											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		8	267	0	0	0	1	0	8	267					A	168510202	G	A	168510202	2	1	37	1	0	0	0	0	0	0	0	1	17478	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	247760	168510202	80740419	17	4361											
PRG4	10216	broad.mit.edu	37	chr1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggagccttcacccaccactCccaaggagcctgcacccacc	7	20	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						ACCCACCACTCCCAAGGAGCC	0.642																																						ENST00000445192.2																			0				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						c.(1555-1557)Ccc>Acc		proteoglycan 4							128	118	121					1																	186276406		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276406C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1555C>A	1.37:g.186276406C>A	ENSP00000399679:p.Pro519Thr					PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	p.P519T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1600	+			519			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1555C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	2.625	-0.287646	0.05605	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.51;3.47;3.54	2.92	0.7	0.18099	.	.	.	.	.	T	0.05502	0.0145	L	0.46885	1.475	0.09310	N	0.999997	B;B;B;B	0.32573	0.376;0.376;0.259;0.376	B;B;B;B	0.25140	0.058;0.058;0.026;0.058	T	0.37753	-0.9692	8	.	.	.	.	7.2645	0.26222	0.3378:0.5079:0.1544:0.0	.	385;426;519;478	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	476;385;478;426;519	ENSP00000356456:P476T;ENSP00000356453:P478T;ENSP00000356455:P426T;ENSP00000399679:P519T	.	P	+	1	0	PRG4	184543029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.218000	0.02976	-0.122000	0.11766	0.186000	0.17326	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	655	1	0	0.38729	1	0.38729	7	655					A	186276406	C	A	186276406	3	1	37	1	0	0	0	0	1	0	0	0	12528	855	30	3	1577	3	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	17766204	186276406	62974215	18	4362											
MTR	4548	broad.mit.edu	37	chr1	237024423	237024423	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttgtcttttttAgggcattgaaaaacatatta	5	3	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28	28	28					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	7	132	0	0	0	1	0	7	132					T	237024423	A	T	237024423	5	4	37	1	0	0	0	0	0	0	1	0	9999	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	50748017	237024423	12226198	19	4363											
ATAD2B	54454	broad.mit.edu	37	chr2	24051724	24051724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtaacactcaccaacaCatttttcagccaattcacct	2	14	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:24051724C>T	ENST00000238789.5	-	15	2157	c.1814G>A	c.(1813-1815)tGt>tAt	p.C605Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	605						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCAACACATTTTTCAGC	0.368																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(1813-1815)tGt>tAt		ATPase family, AAA domain containing 2B							111	107	108					2																	24051724		1860	4107	5967	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24051724C>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1814G>A	2.37:g.24051724C>T	ENSP00000238789:p.Cys605Tyr					ATAD2B_ENST00000474583.1_5'UTR	p.C605Y	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			15	2157	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		605					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.1814G>A	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287448	0.80803	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94862	-3.54;-1.68	4.85	4.85	0.62838	.	.	.	.	.	D	0.96784	0.8950	M	0.82056	2.57	0.80722	D	1	P	0.52170	0.951	P	0.58077	0.832	D	0.97225	0.9880	9	0.72032	D	0.01	.	18.8549	0.92247	0.0:1.0:0.0:0.0	.	605	Q9ULI0	ATD2B_HUMAN	Y	605;43	ENSP00000238789:C605Y;ENSP00000392764:C43Y	ENSP00000238789:C605Y	C	-	2	0	ATAD2B	23905228	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.730000	0.84881	2.632000	0.89209	0.650000	0.86243	TGT		0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		62	150	0	0	0	1	0	62	150					T	24051724	C	T	24051724	3	4	37	1	0	0	0	0	1	0	0	0	1073	478	17	2	2618	2	ATAD2B	2	24051724	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		24051724	219147649	20	4364											
DNMT3A	1788	broad.mit.edu	37	chr2	25468126	25468126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgtgctcctaccttgCagttttggcacattcctcca	10	12	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:25468126C>G	ENST00000264709.3	-	13	1887	c.1550G>C	c.(1549-1551)tGc>tCc	p.C517S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	517	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTACCTTGCAGTTTTGGCA	0.597			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1549-1551)tGc>tCc		DNA (cytosine-5-)-methyltransferase 3 alpha							100	96	98					2																	25468126		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468126C>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1550G>C	2.37:g.25468126C>G	ENSP00000264709:p.Cys517Ser					DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S	p.C517S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			13	1887	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		517			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1550G>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078236	0.94000	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	.	0.095869	0.64402	D	0.000001	T	0.57932	0.2087	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.981	T	0.61048	-0.7141	10	0.72032	D	0.01	-8.9535	16.4462	0.83935	0.0:1.0:0.0:0.0	.	517;328	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	328;517;517;294	ENSP00000370122:C328S;ENSP00000324375:C517S;ENSP00000264709:C517S;ENSP00000384237:C294S	ENSP00000264709:C517S	C	-	2	0	DNMT3A	25321630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.788000	0.69020	2.735000	0.93741	0.655000	0.94253	TGC		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		29	87	0	0	0	1	0	29	87					G	25468126	C	G	25468126	3	3	37	1	0	0	0	0	1	0	0	0	4692	710	25	5	1232	5	DNMT3A	2	25468126	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	1416402	25468126	217731247	21	4365											
STON1	11037	broad.mit.edu	37	chr2	48808480	48808480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgagaagcttgaacatctCcagtcagctgagaaccaaga	10	9	2	4			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:48808480C>T	ENST00000406226.1	+	3	903	c.708C>T	c.(706-708)ctC>ctT	p.L236L	STON1_ENST00000404752.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000309835.3_Silent_p.L236L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	236					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAACATCTCCAGTCAGCTG	0.413																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(706-708)ctC>ctT		stonin 1							86	79	82					2																	48808480		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48808480C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.708C>T	2.37:g.48808480C>T						STON1_ENST00000406226.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L	p.L236L					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	718	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.708C>T	CCDS1841.1																																																																																				0.413	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		46	409	0	0	0	1	0	46	409					T	48808480	C	T	48808480	2	4	37	1	0	0	0	0	0	0	0	1	15368	842	30	2		2	STON1	2	48808480	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	23340354	48808480	194390893	22	4366											
BCL11A	53335	broad.mit.edu	37	chr2	60689253	60689254	+	Frame_Shift_Ins	INS	-	-	G													tctcggtggtggactaaacaINSgggggggagtgggtggaaag							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:60689253_60689254insG	ENST00000335712.6	-	4	1020_1021	c.793_794insC	c.(793-795)ctgfs	p.L265fs	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L265fs|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	265	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(793-795)gttfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689253_60689254insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.794dupC	2.37:g.60689260_60689260dupG	ENSP00000338774:p.Leu265fs					BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs	p.V265fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1020_1021	-			265			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.793_794insC	CCDS1862.1																																																																																				0.584	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	241						8	241	---	---	---	---	G	60689254	-	G	60689253	7	5	37	1	0	1	1	0	0	0	0	0	1364	188	7	0	1823	0	BCL11A	2	60689253	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	11880773	60689253	182510120	23	4367											
FER1L5	90342	broad.mit.edu	37	chr2	97365699	97365721	+	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-													tttagatggcgggatcagatGcccccaagctacctcctaga							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	ENST00000457909.1	+	0	4315_4337							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGATCAGATGCCCCCAAGCTACCTCCTAGAACGCTATGCCAA	0.529																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC										A0AVI2	FR1L5_HUMAN			0	4315_4337	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.529	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		23	342						23	342	---	---	---	---	-	97365721	GCCCCCAAGCTACCTCCTAGAAC	-	97365699	6	5	37	0	1	1	0	1	0	0	0	0	5839	1319	46	0		0	FER1L5	2	97365699	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	TCGA-3A-A9IZ-01A-12D-A40W-08	36676446	97365699	145833674	24	4368											
WDR33	55339	broad.mit.edu	37	chr2	128471486	128471486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacccctgcagtcctgGccaccccggaaaggccccct	13	18	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:128471486G>A	ENST00000322313.4	-	18	3137	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	993					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCAGTCCTGGCCACCCCGGA	0.662																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2977-2979)ggC>ggT		WD repeat domain 33							60	69	66					2																	128471486		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471486G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2979C>T	2.37:g.128471486G>A							p.G993G	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3137	-	Colorectal(110;0.1)		993					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2979C>T	CCDS2150.1																																																																																				0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		18	545	0	0	0	1	0	18	545					A	128471486	G	A	128471486	2	1	37	1	0	0	0	0	0	0	0	1	17341	1190	42	2		2	WDR33	2	128471486	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	31105787	128471486	114727887	25	4369											
POTEE	445582	broad.mit.edu	37	chr2	131984442	131984442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgagcaaaaacagcAagtcgtgaaatttttaatca	7	6	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:131984442A>C	ENST00000356920.5	+	4	951	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|RNU6-127P_ENST00000390897.1_RNA	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAAAACAGCAAGTCGTGAAA	0.328																																						ENST00000356920.5																			0											c.(856-858)cAa>cCa		POTE ankyrin domain family, member E							96	113	107					2																	131984442		1503	2704	4207	SO:0001583	missense	445582						ATP binding	g.chr2:131984442A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.857A>C	2.37:g.131984442A>C	ENSP00000439189:p.Gln286Pro					POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.Q286P	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			4	951	+			286					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.857A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320219	0.23994	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.63744	0.63;-0.06	1.16	1.16	0.20824	Ankyrin repeat-containing domain (4);	3.765040	0.01962	U	0.043420	T	0.60495	0.2273	L	0.33668	1.02	0.09310	N	1	D	0.63880	0.993	P	0.51355	0.667	T	0.51371	-0.8714	10	0.87932	D	0	.	4.5417	0.12061	1.0:0.0:0.0:0.0	.	286	Q6S8J3	POTEE_HUMAN	P	286;296	ENSP00000439189:Q286P;ENSP00000443049:Q296P	ENSP00000439189:Q286P	Q	+	2	0	AC131180.1	131700912	0.229000	0.23729	0.024000	0.17045	0.083000	0.17756	1.857000	0.39399	0.784000	0.33661	0.136000	0.15936	CAA		0.328	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		40	787	0	0	0	1	0	40	787					C	131984442	A	C	131984442	3	2	37	1	0	0	0	0	1	0	0	0	12306	130	5	4	871	4	POTEE	2	131984442	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	3512956	131984442	111214931	26	4370											
GALNT5	11227	broad.mit.edu	37	chr2	158157419	158157419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctcacccagcaaagggagCtgcgaaagaaactgaagtgc	11	11	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:158157419C>G	ENST00000259056.4	+	7	2832	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V	GALNT5_ENST00000463418.1_3'UTR|RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	783					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCAAAGGGAGCTGCGAAAGAA	0.498																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2347-2349)Ctg>Gtg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							103	97	99					2																	158157419		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158157419C>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2347C>G	2.37:g.158157419C>G	ENSP00000259056:p.Leu783Val					GALNT5_ENST00000463418.1_3'UTR	p.L783V	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			7	2832	+			783					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2347C>G	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296112	0.81025	.	.	ENSG00000136542	ENST00000259056	T	0.57907	0.37	5.54	4.65	0.58169	.	0.069082	0.56097	D	0.000030	T	0.69646	0.3134	M	0.79011	2.435	0.53688	D	0.999977	D	0.63880	0.993	P	0.62435	0.902	T	0.74293	-0.3712	10	0.87932	D	0	.	13.1441	0.59450	0.0:0.921:0.0:0.079	.	783	Q7Z7M9	GALT5_HUMAN	V	783	ENSP00000259056:L783V	ENSP00000259056:L783V	L	+	1	2	GALNT5	157865665	0.998000	0.40836	0.970000	0.41538	0.994000	0.84299	3.340000	0.52143	1.305000	0.44909	0.563000	0.77884	CTG		0.498	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		50	127	0	0	0	1	0	50	127					G	158157419	C	G	158157419	3	3	37	1	0	0	0	0	1	0	0	0	6244	796	28	5	2373	5	GALNT5	2	158157419	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	26172977	158157419	85041954	27	4371											
GRB14	2888	broad.mit.edu	37	chr2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgagtccttcttcaaccGcaactgaaagggcttcagtg	10	11	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1195-1197)gCg>gTg		growth factor receptor-bound protein 14							98	100	99					2																	165353909		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353909G>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1196C>T	2.37:g.165353909G>A	ENSP00000263915:p.Ala399Val					GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	p.A399V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			10	1734	-			399					B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.1196C>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			5	498	0	0	0	1	0	5	498					A	165353909	G	A	165353909	3	1	37	1	0	0	0	0	1	0	0	0	6787	1087	38	1	446	1	GRB14	2	165353909	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	7196490	165353909	77845464	28	4372											
VIL1	7429	broad.mit.edu	37	chr2	219301231	219301231	+	Frame_Shift_Del	DEL	C	C	-													ggaagaaaacctggtcatcaCcccccggctctttgagtgtt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:219301231delC	ENST00000248444.5	+	16	1941	c.1853delC	c.(1852-1854)accfs	p.T618fs	VIL1_ENST00000392114.2_Frame_Shift_Del_p.T307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGTCATCACCCCCCGGCTC	0.502																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1852-1854)acfs		villin 1							142	150	147					2																	219301231		2203	4300	6503	SO:0001589	frameshift_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301231delC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1853delC	2.37:g.219301231delC	ENSP00000248444:p.Thr618fs					VIL1_ENST00000392114.2_Frame_Shift_Del_p.T307fs	p.T618fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1941	+		Renal(207;0.0474)	618			Core.		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Del	DEL	ENST00000248444.5	37	c.1853delC	CCDS2417.1																																																																																				0.502	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		7	1126						7	1126	---	---	---	---	-	219301231	C	-	219301231	7	5	37	1	0	1	0	1	0	0	0	0	17218	507	18	0	1911	0	VIL1	2	219301231	Frame_Shift_Del	DEL	C	TCGA-3A-A9IZ-01A-12D-A40W-08	53947322	219301231	23898142	29	4373											
XPC	7508	broad.mit.edu	37	chr3	14209834	14209834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaggcagaagagatcgagaGaaggctgtactttctctcac	11	9	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:14209834G>A	ENST00000285021.7	-	4	673	c.459C>T	c.(457-459)ttC>ttT	p.F153F	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	153	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGATCGAGAGAAGGCTGTAC	0.418			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(457-459)ttC>ttT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							60	60	60					3																	14209834		1923	4141	6064	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14209834G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.459C>T	3.37:g.14209834G>A						XPC_ENST00000449060.2_Intron	p.F153F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			4	673	-			153			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.459C>T	CCDS46763.1																																																																																				0.418	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		46	158	0	0	0	1	0	46	158					A	14209834	G	A	14209834	2	1	37	1	0	0	0	0	0	0	0	1	17495	933	33	2		2	XPC	3	14209834	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		14209834	183812596	30	4374											
RPL15	6138	broad.mit.edu	37	chr3	23959499	23959499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccggcctgataaagcgcgccGactgggctacaaggccaagc	13	14	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:23959499G>C	ENST00000307839.5	+	2	788	c.149G>C	c.(148-150)cGa>cCa	p.R50P	NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000443659.2_5'Flank|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank|RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAGCGCGCCGACTGGGCTAC	0.557																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(148-150)cGa>cCa		ribosomal protein L15							34	37	36					3																	23959499		2203	4300	6503	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23959499G>C	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"L ribosomal proteins"	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.149G>C	3.37:g.23959499G>C	ENSP00000309334:p.Arg50Pro					RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000354811.5_Missense_Mutation_p.R50P	p.R50P	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			2	788	+			50					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.149G>C	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133108	0.77662	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	5.77	0.91146	Ribosomal protein L15e, conserved site (1);Ribosomal protein L23/L15e (1);	0.000000	0.85682	U	0.000000	D	0.90068	0.6898	H	0.96720	3.87	0.80722	D	1	B;D;B;D	0.60160	0.013;0.987;0.092;0.965	B;D;B;D	0.71656	0.094;0.97;0.155;0.974	D	0.92718	0.6189	9	0.87932	D	0	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	P	50	.	ENSP00000309334:R50P	R	+	2	0	RPL15	23934503	1.000000	0.71417	0.995000	0.50966	0.515000	0.34225	7.956000	0.87863	2.726000	0.93360	0.650000	0.86243	CGA		0.557	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		5	195	0	0	0	1	0	5	195					C	23959499	G	C	23959499	3	2	37	1	0	0	0	0	1	0	0	0	13612	1058	37	5	151	5	RPL15	3	23959499	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	9749665	23959499	174062931	31	4375											
SEMA3G	56920	broad.mit.edu	37	chr3	52471991	52471991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgccaccactcaccttcCtggctctggcccaggcactg	8	19	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:52471991C>G	ENST00000231721.2	-	14	1733	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	578	Ig-like C2-type.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACTCACCTTCCTGGCTCTGGC	0.672																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1732-1734)caG>caC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							17	18	18					3																	52471991		2171	4252	6423	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52471991C>G		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1734G>C	3.37:g.52471991C>G	ENSP00000231721:p.Gln578His						p.Q578H	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	14	1733	-			578			Ig-like C2-type.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1734G>C	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809149	0.31961	.	.	ENSG00000010319	ENST00000231721	T	0.30714	1.52	5.09	3.22	0.36961	Immunoglobulin-like (1);	0.329295	0.29225	N	0.012777	T	0.15565	0.0375	N	0.08118	0	0.22266	N	0.999244	B	0.02656	0.0	B	0.10450	0.005	T	0.17561	-1.0365	10	0.38643	T	0.18	.	10.4033	0.44241	0.0:0.7738:0.146:0.0801	.	578	Q9NS98	SEM3G_HUMAN	H	578	ENSP00000231721:Q578H	ENSP00000231721:Q578H	Q	-	3	2	SEMA3G	52447031	0.001000	0.12720	0.978000	0.43139	0.977000	0.68977	0.311000	0.19380	1.388000	0.46506	0.655000	0.94253	CAG		0.672	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		4	115	0	0	0	1	0	4	115					G	52471991	C	G	52471991	3	3	37	1	0	0	0	0	1	0	0	0	14080	680	24	5	626	5	SEMA3G	3	52471991	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	28512492	52471991	145550439	32	4376											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	375	0	0	0	1	0	6	375					T	65425585	C	T	65425585	2	4	37	1	0	0	0	0	0	0	0	1	9231	796	28	2		2	MAGI1	3	65425585	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	12953594	65425585	132596845	33	4377											
MYH15	22989	broad.mit.edu	37	chr3	108149680	108149680	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttgataattgattaccTgaagctctttaaccgtcttc	5	8	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:108149680T>G	ENST00000273353.3	-	27	3427	c.3371A>C	c.(3370-3372)cAg>cCg	p.Q1124P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1124						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTGATTACCTGAAGCTCTTT	0.368																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.e27+1		myosin, heavy chain 15							97	89	92					3																	108149680		1830	4093	5923	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108149680T>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3372+1A>C	3.37:g.108149680T>G							p.Q1124_splice	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			27	3427	-			1124						Splice_Site	SNP	ENST00000273353.3	37	c.3372_splice	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116301	0.37339	.	.	ENSG00000144821	ENST00000273353	T	0.80214	-1.35	5.35	1.36	0.22044	Myosin tail (1);	.	.	.	.	D	0.88844	0.6547	M	0.89534	3.04	0.42303	D	0.992189	D	0.89917	1.0	D	0.97110	1.0	D	0.86321	0.1692	9	0.87932	D	0	.	5.6809	0.17776	0.2619:0.0733:0.0:0.6647	.	1124	Q9Y2K3	MYH15_HUMAN	P	1124	ENSP00000273353:Q1124P	ENSP00000273353:Q1124P	Q	-	2	0	MYH15	109632370	1.000000	0.71417	0.061000	0.19648	0.016000	0.09150	3.060000	0.49955	0.412000	0.25729	0.528000	0.53228	CAG		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Missense_Mutation	82	195	0	0	0	1	0	82	195					G	108149680	T	G	108149680	5	3	37	1	0	0	0	0	0	0	1	0	10075	1594	55	4	2533	4	MYH15	3	108149680	Splice_Site	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	42724095	108149680	89872750	34	4378											
CCDC52	152185	broad.mit.edu	37	chr3	113179511	113179511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctccgctttctgatgccTgaatttcttgtctgttattt	8	9	3	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:113179511T>C	ENST00000295872.4	-	12	1647	c.1388A>G	c.(1387-1389)cAg>cGg	p.Q463R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	463					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTGATGCCTGAATTTCTTG	0.433																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1387-1389)cAg>cGg		spindle and centriole associated protein 1							295	256	269					3																	113179511		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113179511T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1388A>G	3.37:g.113179511T>C	ENSP00000295872:p.Gln463Arg						p.Q463R	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			12	1647	-			463					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1388A>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	9.402	1.078260	0.20227	.	.	ENSG00000163611	ENST00000295872	T	0.31247	1.5	5.07	1.27	0.21489	.	0.097441	0.45126	D	0.000397	T	0.30166	0.0756	L	0.57536	1.79	0.09310	N	1	P;P	0.40476	0.718;0.718	P;P	0.44359	0.447;0.447	T	0.09796	-1.0658	10	0.52906	T	0.07	-4.9826	6.0655	0.19862	0.345:0.0:0.1276:0.5274	.	359;463	B3KX77;Q8N0Z3	.;SPICE_HUMAN	R	463	ENSP00000295872:Q463R	ENSP00000295872:Q463R	Q	-	2	0	SPICE1	114662201	0.121000	0.22262	0.260000	0.24451	0.940000	0.58332	0.692000	0.25482	0.919000	0.36945	0.528000	0.53228	CAG		0.433	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		6	502	0	0	0	1	0	6	502					C	113179511	T	C	113179511	3	2	37	1	0	0	0	0	1	0	0	0	2829	1580	55	4	1207	4	CCDC52	3	113179511	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	5029831	113179511	84842919	35	4379											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		7	341						7	341	---	---	---	---	-	149260196	CTG	-	149260194	7	5	37	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-3A-A9IZ-01A-12D-A40W-08	36080683	149260194	48762236	36	4380											
FNDC3B	64778	broad.mit.edu	37	chr3	172028627	172028627	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attttttttaggcaccaattGacaacggttcaaaaatcacc	5	9	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:172028627G>C	ENST00000336824.4	+	11	1309	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	404	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCACCAATTGACAACGGTTC	0.343																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1210-1212)Gac>Cac		fibronectin type III domain containing 3B							210	221	217					3																	172028627		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172028627G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1210G>C	3.37:g.172028627G>C	ENSP00000338523:p.Asp404His					FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H	p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	11	1309	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		404			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1210G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754948	0.89843	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58940	0.3;0.3;0.3	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.987	D	0.84606	0.0675	10	0.87932	D	0	-29.8321	19.8634	0.96793	0.0:0.0:1.0:0.0	.	404;404	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	404	ENSP00000411242:D404H;ENSP00000338523:D404H;ENSP00000389094:D404H	ENSP00000338523:D404H	D	+	1	0	FNDC3B	173511321	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.709000	0.91379	2.800000	0.96347	0.591000	0.81541	GAC		0.343	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		31	747	0	0	0	1	0	31	747					C	172028627	G	C	172028627	3	2	37	1	0	0	0	0	1	0	0	0	5995	1290	45	5	1248	5	FNDC3B	3	172028627	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	22768433	172028627	25993803	37	4381											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	Intron	DEL	GCT	GCT	-													ccaagcgcatggaaagacacGctgctgctgctgctgtccaa					rs370831945		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				FAM198B_ENST00000585682.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		7	268						7	268	---	---	---	---	-	159091489	GCT	-	159091487	6	5	37	0	1	1	0	1	0	0	0	0	5550	1087	38	0		0	FAM198B	4	159091487	Intron	DEL	GCT	TCGA-3A-A9IZ-01A-12D-A40W-08		159091487	32062789	38	4382											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	141						9	141	---	---	---	---	A	190878556	-	A	190878555	7	5	37	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	31787068	190878555	275721	39	4383											
SLC9A3	6550	broad.mit.edu	37	chr5	476656	476656	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagcccgcagtgcccAcctcctgccgcggcttgtac	10	21	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:476656A>G	ENST00000264938.3	-	12	1900		c.e12+1		CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3						ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCAGTGCCCACCTCCTGCCG	0.701																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.e12+1		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							32	33	32					5																	476656		2203	4299	6502	SO:0001630	splice_region_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476656A>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1890+1T>C	5.37:g.476656A>G						SLC9A3_ENST00000514375.1_Splice_Site|CTD-2228K2.7_ENST00000607286.1_RNA		NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		12	1900	-								B7ZKR2|E9PF67|Q3MIW3	Splice_Site	SNP	ENST00000264938.3	37		CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781915	0.31502	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0046	0.64456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A3	529656	1.000000	0.71417	0.988000	0.46212	0.288000	0.27193	4.943000	0.63554	1.799000	0.52666	0.459000	0.35465	.		0.701	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	Intron	7	133	0	0	0	1	0	7	133					G	476656	A	G	476656	5	3	37	1	0	0	0	0	0	0	1	0	14763	173	6	4	636	4	SLC9A3	5	476656	Splice_Site	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08		476656	180438604	40	4384											
SLC6A3	6531	broad.mit.edu	37	chr5	1432653	1432653	+	Frame_Shift_Del	DEL	A	A	-													tctccactggagtcaccaggAtgggcatccgagcagttggg							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:1432653delA	ENST00000270349.9	-	4	706	c.579delT	c.(577-579)catfs	p.H193fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	193					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTCACCAGGATGGGCATCCG	0.597																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(577-579)cafs		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						121	106	111					5																	1432653		2203	4300	6503	SO:0001589	frameshift_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432653delA		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.579delT	5.37:g.1432653delA	ENSP00000270349:p.His193fs					SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	706	-			193					A2RUN4|Q14996	Frame_Shift_Del	DEL	ENST00000270349.9	37	c.579delT	CCDS3863.1																																																																																				0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		74	367						74	367	---	---	---	---	-	1432653	A	-	1432653	7	5	37	1	0	1	0	1	0	0	0	0	14735	330	12	0	1331	0	SLC6A3	5	1432653	Frame_Shift_Del	DEL	A	TCGA-3A-A9IZ-01A-12D-A40W-08	955997	1432653	179482607	41	4385											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881302	33881302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccactgagatggcagagGggggcagaggaagccatcat	17	8	1	3	rs200507261		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:33881302G>A	ENST00000504830.1	-	2	746	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ADAMTS12_ENST00000515401.1_Silent_p.P137P|ADAMTS12_ENST00000352040.3_Silent_p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	137					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATGGCAGAGGGGGGCAGAGG	0.532										HNSCC(64;0.19)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		19188	0.0		0.0	False		,,,				2504	0.0					ENST00000504830.1																			0				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						c.(409-411)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							66	65	65					5																	33881302		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881302G>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.411C>T	5.37:g.33881302G>A		HNSCC(64;0.19)				ADAMTS12_ENST00000515401.1_Silent_p.P137P|ADAMTS12_ENST00000352040.3_Silent_p.P137P	p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			2	746	-			137					A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.411C>T	CCDS34140.1																																																																																				0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		5	225	0	0	0	1	0	5	225					A	33881302	G	A	33881302	2	1	37	1	0	0	0	0	0	0	0	1	257	1219	43	2		2	ADAMTS12	5	33881302	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	32448649	33881302	147033958	42	4386											
NIPBL	25836	broad.mit.edu	37	chr5	37022228	37022228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtctgaggttgttgctGtagaccccagtattctagca	11	8	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:37022228G>A	ENST00000282516.8	+	28	5903	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1802					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)			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)			GGTTGTTGCTGTAGACCCCAG	0.358																																						ENST00000282516.8																			0				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						c.(5404-5406)Gta>Ata		Nipped-B homolog (Drosophila)							124	114	117					5																	37022228		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37022228G>A	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.5404G>A	5.37:g.37022228G>A	ENSP00000282516:p.Val1802Ile					NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		28	5903	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1802					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5404G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353414	0.82243	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.87334	-2.24;-2.24	5.24	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	L	0.40543	1.245	0.58432	D	0.999992	D;D	0.64830	0.992;0.994	D;D	0.68483	0.958;0.948	D	0.88745	0.3246	10	0.34782	T	0.22	.	16.1087	0.81244	0.0:0.1342:0.8658:0.0	.	1802;1802	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	1802	ENSP00000282516:V1802I;ENSP00000406266:V1802I	ENSP00000282516:V1802I	V	+	1	0	NIPBL	37057985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.384000	0.97219	1.300000	0.44818	0.650000	0.86243	GTA		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	211	0	0	0	1	0	5	211					A	37022228	G	A	37022228	3	1	37	1	0	0	0	0	1	0	0	0	10470	1377	48	2	5510	2	NIPBL	5	37022228	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	3140926	37022228	143893032	43	4387											
HCN1	348980	broad.mit.edu	37	chr5	45262090	45262090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaagactgaggaagattctCttggaagagcagctgctggt	13	6	1	4	rs372807250		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:45262090C>T	ENST00000303230.4	-	8	2663	c.2606G>A	c.(2605-2607)aGa>aAa	p.R869K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	869					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAAGATTCTCTTGGAAGAGC	0.537																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2605-2607)aGa>aAa		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		C	LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	90	85		2606	4.9	1	5		85	0,8600		0,0,4300	no	missense	HCN1	NM_021072.3	26	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	869/891	45262090	1,13005	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262090C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2606G>A	5.37:g.45262090C>T	ENSP00000307342:p.Arg869Lys						p.R869K	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2663	-			869						Missense_Mutation	SNP	ENST00000303230.4	37	c.2606G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	c	9.791	1.177962	0.21787	2.27E-4	0.0	ENSG00000164588	ENST00000303230	D	0.97575	-4.44	4.87	4.87	0.63330	.	0.082787	0.49305	D	0.000148	D	0.90865	0.7130	N	0.04880	-0.145	0.36584	D	0.873737	B	0.09022	0.002	B	0.09377	0.004	D	0.88891	0.3346	10	0.36615	T	0.2	.	11.8404	0.52350	0.0:0.9193:0.0:0.0807	.	869	O60741	HCN1_HUMAN	K	869	ENSP00000307342:R869K	ENSP00000307342:R869K	R	-	2	0	HCN1	45297847	1.000000	0.71417	0.996000	0.52242	0.361000	0.29550	1.995000	0.40767	2.399000	0.81585	0.651000	0.88453	AGA		0.537	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		171	391	0	0	0	1	0	171	391					T	45262090	C	T	45262090	3	4	37	1	0	0	0	0	1	0	0	0	7026	913	32	2	70	2	HCN1	5	45262090	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	8239862	45262090	135653170	44	4388											
SLC12A2	6558	broad.mit.edu	37	chr5	127488461	127488461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgcagcattcaattcGtctttctggagtggaagacc	10	10	3	1	rs373411636		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:127488461G>A	ENST00000262461.2	+	15	2516	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTCAATTCGTCTTTCTGGA	0.413																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2326-2328)cGt>cAt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	121	114	117		2327	5.3	1	5		117	0,8600		0,0,4300	no	missense	SLC12A2	NM_001046.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	776/1213	127488461	2,13004	2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127488461G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2327G>A	5.37:g.127488461G>A	ENSP00000262461:p.Arg776His					SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	15	2516	+		all_cancers(142;0.0972)|Prostate(80;0.151)	776					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2327G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070173	0.55539	4.54E-4	0.0	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98792	-5.14;-5.14	5.27	5.27	0.74061	Amino acid permease domain (1);	0.215343	0.46758	D	0.000270	D	0.97383	0.9144	L	0.56199	1.76	0.58432	D	0.999999	B;B	0.19445	0.029;0.036	B;B	0.19148	0.014;0.024	D	0.95103	0.8232	10	0.42905	T	0.14	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	776;776	P55011-3;P55011	.;S12A2_HUMAN	H	776	ENSP00000262461:R776H;ENSP00000340878:R776H	ENSP00000262461:R776H	R	+	2	0	SLC12A2	127516360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.777000	0.55364	2.746000	0.94184	0.460000	0.39030	CGT		0.413	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		93	290	0	0	0	1	0	93	290					A	127488461	G	A	127488461	3	1	37	1	0	0	0	0	1	0	0	0	14433	1145	40	1	2385	1	SLC12A2	5	127488461	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	82226371	127488461	53426799	45	4389											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799066	140799066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctcagcgccaatgtgaGcctgcgcgtgttggtgggcg	17	12	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:140799066G>C	ENST00000398594.2	+	1	1640	c.1640G>C	c.(1639-1641)aGc>aCc	p.S547T	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	547	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAATGTGAGCCTGCGCGTG	0.711																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1639-1641)aGc>aCc									27	33	31					5																	140799066		2079	4193	6272	SO:0001583	missense	0							g.chr5:140799066G>C	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1640G>C	5.37:g.140799066G>C	ENSP00000381594:p.Ser547Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S547T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1640	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1640G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	8.119	0.780447	0.16120	.	.	ENSG00000254122	ENST00000398594	T	0.46819	0.86	5.38	4.49	0.54785	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.20170	0.0485	N	0.01424	-0.875	0.21325	N	0.999726	P;B	0.35107	0.484;0.208	B;B	0.38225	0.268;0.108	T	0.13845	-1.0494	10	0.16896	T	0.51	.	8.4342	0.32778	0.0:0.3785:0.4932:0.1283	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	547	ENSP00000381594:S547T	ENSP00000381594:S547T	S	+	2	0	PCDHGB7	140779250	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	0.243000	0.18106	2.513000	0.84729	0.491000	0.48974	AGC		0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		58	166	0	0	0	1	0	58	166					C	140799066	G	C	140799066	3	2	37	1	0	0	0	0	1	0	0	0	11610	971	34	5	1642	5	PCDHGB7	5	140799066	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	13310605	140799066	40116194	46	4390											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		13	487						13	487	---	---	---	---	A	162917426	-	A	162917425	7	5	37	1	0	1	1	0	0	0	0	0	7272	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	22118359	162917425	17997835	47	4391											
DOCK2	1794	broad.mit.edu	37	chr5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtcatcaccatgggccGggatcacattctgattgtga	11	10	4	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					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)			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)			ACCATGGGCCGGGATCACATT	0.453																																						ENST00000256935.8																			0				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						c.(2782-2784)cGg>cAg		dedicator of cytokinesis 2							124	107	113					5																	169267840		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.chr5:169267840G>A	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.2783G>A	5.37:g.169267840G>A	ENSP00000256935:p.Arg928Gln					DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	p.R928Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2863	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	928					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2783G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350030	0.82132	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T	0.68331	-0.32;-0.32	5.28	5.28	0.74379	.	0.120890	0.56097	D	0.000022	T	0.65481	0.2695	M	0.71036	2.16	0.80722	D	1	P;P	0.52061	0.95;0.67	B;B	0.40864	0.342;0.098	T	0.67597	-0.5630	10	0.30854	T	0.27	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	420;928	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	928;309;420;132	ENSP00000256935:R928Q;ENSP00000429283:R420Q	ENSP00000256935:R928Q	R	+	2	0	DOCK2	169200418	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	6.268000	0.72552	2.460000	0.83146	0.585000	0.79938	CGG		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		38	122	0	0	0	1	0	38	122					A	169267840	G	A	169267840	3	1	37	1	0	0	0	0	1	0	0	0	4703	1116	39	1	2889	1	DOCK2	5	169267840	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	6350415	169267840	11647420	48	4392											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585787	178585787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtgatcgtggtattcatCgtggcccgtgtctggcttct	14	10	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:178585787C>T	ENST00000251582.7	-	6	1170	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGTATTCATCGTGGCCCGTG	0.612																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1069-1071)Gat>Aat		ADAM metallopeptidase with thrombospondin type 1 motif, 2							151	130	137					5																	178585787		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585787C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1069G>A	5.37:g.178585787C>T	ENSP00000251582:p.Asp357Asn					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1170	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	357			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1069G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780745	0.31502	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62788	0.0;0.0	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.373747	0.22328	N	0.061514	T	0.51686	0.1689	L	0.31476	0.935	0.41488	D	0.988209	D;P	0.56035	0.974;0.874	B;B	0.39503	0.301;0.254	T	0.54200	-0.8329	10	0.35671	T	0.21	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	357;357	O95450-2;O95450	.;ATS2_HUMAN	N	357	ENSP00000251582:D357N;ENSP00000274609:D357N	ENSP00000251582:D357N	D	-	1	0	ADAMTS2	178518393	1.000000	0.71417	0.556000	0.28293	0.068000	0.16541	5.858000	0.69532	2.695000	0.91970	0.650000	0.86243	GAT		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		101	268	0	0	0	1	0	101	268					T	178585787	C	T	178585787	3	4	37	1	0	0	0	0	1	0	0	0	265	884	31	1	2709	1	ADAMTS2	5	178585787	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	9317947	178585787	2329473	49	4393											
KIAA0319	9856	broad.mit.edu	37	chr6	24582552	24582552	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggtggcttattaaattCcattcatagttgtaggttgt	12	4	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:24582552C>T	ENST00000378214.3	-	6	1640	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*	KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.W363*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	372	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTATTAAATTCCATTCATAGT	0.388																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1087-1089)tgG>tgA		KIAA0319							264	253	257					6																	24582552		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24582552C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1116G>A	6.37:g.24582552C>T	ENSP00000367459:p.Trp372*					KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*	p.W363*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			7	1731	-			372			PKD 1.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.1089G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	39	7.560686	0.98358	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.22	4.22	0.49857	.	0.084787	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3723	16.7793	0.85559	0.0:1.0:0.0:0.0	.	.	.	.	X	372;363;327;372;372	.	ENSP00000367459:W372X	W	-	3	0	KIAA0319	24690531	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.029000	0.70895	2.156000	0.67533	0.484000	0.47621	TGG		0.388	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		134	352	0	0	0	1	0	134	352					T	24582552	C	T	24582552	4	4	37	1	0	0	0	0	0	1	0	0	8198	856	30	2	2166	2	KIAA0319	6	24582552	Nonsense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		24582552	146532515	50	4394											
PPP1R10	5514	broad.mit.edu	37	chr6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-													ctcctctggcgcctcggaatGgaggaggaggaggaggaggt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.67	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	277						8	277	---	---	---	---	-	30570266	GGA	-	30570264	7	5	37	1	0	1	0	1	0	0	0	0	12399	1348	47	0	668	0	PPP1R10	6	30570264	In_Frame_Del	DEL	GGA	TCGA-3A-A9IZ-01A-12D-A40W-08	5987712	30570264	140544803	51	4395											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	324						9	324	---	---	---	---	A	46660415	-	A	46660414	7	5	37	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	16090150	46660414	124454653	52	4396											
SESN1	27244	broad.mit.edu	37	chr6	109309803	109309828	+	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-													tacattcttttggtaaccttTtcaggagtgcaaacaacagt					rs551629218		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENST00000356644.7	-	9	1404_1429	c.1310_1335delTCAAAACTGTTGTTTGCACTCCTGAA	c.(1309-1335)atcaaaactgttgtttgcactcctgaafs	p.IKTVVCTPE437fs	SESN1_ENST00000436639.2_Frame_Shift_Del_p.IKTVVCTPE496fs|SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	437					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.E504Q(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT	0.341																																						ENST00000436639.2																			1	Substitution - Missense(1)	p.E504Q(1)	urinary_tract(1)	cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1486-1512)afs		sestrin 1																																				SO:0001589	frameshift_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.1310_1335delTCAAAACTGTTGTTTGCACTCCTGAA	6.37:g.109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENSP00000349061:p.Ile437fs					SESN1_ENST00000356644.7_Frame_Shift_Del_p.IKTVVCTPE437fs|SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs	p.IKTVVCTPE496fs	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	9	2232_2257	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	437					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Frame_Shift_Del	DEL	ENST00000356644.7	37	c.1487_1512delTCAAAACTGTTGTTTGCACTCCTGAA	CCDS56445.1																																																																																				0.341	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		16	85						16	85	---	---	---	---	-	109309828	TTCAGGAGTGCAAACAACAGTTTTGA	-	109309803	7	5	37	1	0	1	0	1	0	0	0	0	14174	1838	64	0	151	0	SESN1	6	109309803	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TCGA-3A-A9IZ-01A-12D-A40W-08	62649389	109309803	61805264	53	4397											
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	11	14	0	0	rs369312237|rs62430309	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16	21	19					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	95	0	0	0	1	0	4	95					G	170871046	A	G	170871046	2	3	37	1	0	0	0	0	0	0	0	1	15696	40	2	4		4	TBP	6	170871046	Silent	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	61561243	170871046	244021	54	4398											
CREB5	9586	broad.mit.edu	37	chr7	28610110	28610110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccatgccgtcgcctcagtCcagctctgtcatcactcagg	9	16	5	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:28610110C>A	ENST00000357727.2	+	5	809	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	140					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCGCCTCAGTCCAGCTCTGTC	0.622																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(418-420)tCc>tAc		cAMP responsive element binding protein 5							116	100	105					7																	28610110		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28610110C>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.419C>A	7.37:g.28610110C>A	ENSP00000350359:p.Ser140Tyr					CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y|CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y	p.S140Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			5	809	+			140					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.419C>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916836	0.73098	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.66460	-0.21;-0.21;-0.2;-0.21	5.45	5.45	0.79879	.	0.100681	0.64402	D	0.000001	D	0.82318	0.5011	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.83827	0.0250	10	0.72032	D	0.01	-14.944	19.2936	0.94112	0.0:1.0:0.0:0.0	.	140	Q02930	CREB5_HUMAN	Y	107;140;133;107	ENSP00000379593:S107Y;ENSP00000350359:S140Y;ENSP00000379594:S133Y;ENSP00000387197:S107Y	ENSP00000350359:S140Y	S	+	2	0	CREB5	28576635	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.205000	0.77881	2.583000	0.87209	0.650000	0.86243	TCC		0.622	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		77	215	1	0	7.63117e-38	1	8.0214e-38	77	215					A	28610110	C	A	28610110	3	1	37	1	0	0	0	0	1	0	0	0	3869	855	30	3	437	3	CREB5	7	28610110	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		28610110	130528553	55	4399											
ZNF117	51351	broad.mit.edu	37	chr7	64439379	64439379	+	Silent	SNP	C	C	T													tcttcacatttgtagggtttCtcttcagtatgaattctctt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439379C>T	ENST00000282869.6	-	4	1854	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	190					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTAGGGTTTCTCTTCAGTAT	0.368																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(568-570)gaG>gaA		zinc finger protein 117							52	56	54					7																	64439379		2154	4272	6426	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439379C>T	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.570G>A	7.37:g.64439379C>T							p.E190E	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	1854	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	190					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.570G>A	CCDS43593.1																																																																																				0.368	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		13	444	0	0	0	1	0	13	444					T	64439379	C	T	64439379	2	4	37	1	0	0	0	0	0	0	0	1	17770	912	32	2		2	ZNF117	7	64439379	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	35829269	64439379	94699284	56	4400	30	2									
ZNF117	51351	broad.mit.edu	37	chr7	64439383	64439383	+	Missense_Mutation	SNP	T	T	C													cacatttgtagggtttctctTcagtatgaattctcttatgt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439383T>C	ENST00000282869.6	-	4	1850	c.566A>G	c.(565-567)gAa>gGa	p.E189G		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	189					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGGTTTCTCTTCAGTATGAAT	0.363																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(565-567)gAa>gGa		zinc finger protein 117							50	54	52					7																	64439383		2153	4276	6429	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439383T>C	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.566A>G	7.37:g.64439383T>C	ENSP00000282869:p.Glu189Gly						p.E189G	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	1850	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	189					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.566A>G	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	2.436	-0.329742	0.05314	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.11821	2.74	1.2	-0.06	0.13790	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.00633	-1.31	0.28937	N	0.891197	B	0.06786	0.001	B	0.08055	0.003	T	0.43972	-0.9358	9	0.02654	T	1	.	5.2076	0.15299	0.0:0.7552:0.0:0.2448	.	189	Q03924	ZN117_HUMAN	G	189	ENSP00000282869:E189G	ENSP00000282869:E189G	E	-	2	0	ZNF117	64076818	0.000000	0.05858	0.019000	0.16419	0.595000	0.36748	-0.741000	0.04855	-0.340000	0.08388	0.172000	0.16884	GAA		0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		11	441	0	0	0	1	0	11	441					C	64439383	T	C	64439383	3	2	37	1	0	0	0	0	1	0	0	0	17770	1783	62	4	889	4	ZNF117	7	64439383	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	4	64439383	94699280	57	4401	30	2									
ZNF117	51351	broad.mit.edu	37	chr7	64439447	64439447	+	Missense_Mutation	SNP	T	T	C													aaaggctttgccacattcttTacatttgtaaggtttttctc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439447T>C	ENST00000282869.6	-	4	1786	c.502A>G	c.(502-504)Aaa>Gaa	p.K168E		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	168					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CCACATTCTTTACATTTGTAA	0.363																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(502-504)Aaa>Gaa		zinc finger protein 117							46	48	47					7																	64439447		2157	4265	6422	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439447T>C	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.502A>G	7.37:g.64439447T>C	ENSP00000282869:p.Lys168Glu						p.K168E	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	1786	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	168					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.502A>G	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.748484	0.00669	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.07567	3.18	1.39	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.03000	-0.44	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	9	0.02654	T	1	.	3.954	0.09382	0.0:0.1692:0.3941:0.4367	.	168	Q03924	ZN117_HUMAN	E	168	ENSP00000282869:K168E	ENSP00000282869:K168E	K	-	1	0	ZNF117	64076882	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-4.157000	0.00283	-1.104000	0.03015	-1.142000	0.01873	AAA		0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		8	423	0	0	0	1	0	8	423					C	64439447	T	C	64439447	3	2	37	1	0	0	0	0	1	0	0	0	17770	1763	61	4	953	4	ZNF117	7	64439447	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	64	64439447	94699216	58	4402	31	2									
ZNF117	51351	broad.mit.edu	37	chr7	64439457	64439457	+	Silent	SNP	A	A	G													ccacattctttacatttgtaAggtttttctccagtatgaat							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439457A>G	ENST00000282869.6	-	4	1776	c.492T>C	c.(490-492)ccT>ccC	p.P164P		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	164					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TACATTTGTAAGGTTTTTCTC	0.348																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(490-492)ccT>ccC		zinc finger protein 117							48	49	49					7																	64439457		2147	4265	6412	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439457A>G	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.492T>C	7.37:g.64439457A>G							p.P164P	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	1776	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	164					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.492T>C	CCDS43593.1																																																																																				0.348	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		10	454	0	0	0	1	0	10	454					G	64439457	A	G	64439457	2	3	37	1	0	0	0	0	0	0	0	1	17770	59	3	4		4	ZNF117	7	64439457	Silent	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	10	64439457	94699206	59	4403	31	2									
C7orf42	55069	broad.mit.edu	37	chr7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttcggagggtattcccGcaacgtcacccatctgtact	8	15	2	0	rs374932648		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	131						integral component of membrane (GO:0016021)											GGGTATTCCCGCAACGTCACC	0.557																																						ENST00000341567.4																			0											c.(391-393)cGc>cAc		transmembrane protein 248		G	HIS/ARG	0,4406		0,0,2203	103	101	101		392	5.8	1	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf42	NM_017994.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/315	66410195	1,13005	2203	4300	6503	SO:0001583	missense	55069							g.chr7:66410195G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.392G>A	7.37:g.66410195G>A	ENSP00000340668:p.Arg131His						p.R131H	NM_017994.4	NP_060464.1					3	647	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.392G>A	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069252	0.55539	0.0	1.16E-4	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	N	0.20986	0.625	0.80722	D	1	B	0.23891	0.093	B	0.16722	0.016	T	0.40079	-0.9582	9	0.20519	T	0.43	-10.4256	19.0145	0.92888	0.0:0.0:1.0:0.0	.	131	Q9NWD8	CG042_HUMAN	H	131	.	ENSP00000340668:R131H	R	+	2	0	C7orf42	66047630	1.000000	0.71417	0.974000	0.42286	0.581000	0.36288	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	CGC		0.557	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		6	650	0	0	0	1	0	6	650					A	66410195	G	A	66410195	3	1	37	1	0	0	0	0	1	0	0	0	2399	1087	38	1	398	1	C7orf42	7	66410195	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	1970738	66410195	92728468	60	4404											
LMTK2	22853	broad.mit.edu	37	chr7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-													atgtcctcaaccaagtcattAgagagagagacacaaaactc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1090-1092)afs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		8	1875						8	1875	---	---	---	---	-	97820132	AG	-	97820131	7	5	37	1	0	1	0	1	0	0	0	0	8892	412	15	0	1128	0	LMTK2	7	97820131	Frame_Shift_Del	DEL	AG	TCGA-3A-A9IZ-01A-12D-A40W-08	31409936	97820131	61318532	61	4405											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		12	1125	0	0	0	1	0	12	1125					G	99913460	A	G	99913460	2	3	37	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	2093329	99913460	59225203	62	4406											
TMEM168	64418	broad.mit.edu	37	chr7	112407372	112407372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaaaaggttcagaccGcataaccaatttgccaaatg	6	10	1	1	rs184128444		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:112407372G>A	ENST00000312814.6	-	5	2534	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	TMEM168_ENST00000454074.1_Silent_p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	658						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTCAGACCGCATAACCAAT	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		19914	0.0		0.001	False		,,,				2504	0.0					ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1972-1974)tgC>tgT		transmembrane protein 168							98	88	91					7																	112407372		2203	4299	6502	SO:0001819	synonymous_variant	64418					integral to membrane|transport vesicle		g.chr7:112407372G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1974C>T	7.37:g.112407372G>A						TMEM168_ENST00000454074.1_Silent_p.C658C	p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			5	2534	-			658					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	c.1974C>T	CCDS5757.1																																																																																				0.433	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		6	279	0	0	0	1	0	6	279					A	112407372	G	A	112407372	2	1	37	1	0	0	0	0	0	0	0	1	16135	1079	38	1		1	TMEM168	7	112407372	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	12493912	112407372	46731291	63	4407											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518053	113518053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagtgattgcccagagcttaCtaatccttcattttcatgcc	6	11	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:113518053C>G	ENST00000284601.3	-	4	3162	c.3094G>C	c.(3094-3096)Gta>Cta	p.V1032L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1032					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAGAGCTTACTAATCCTTCA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3094-3096)Gta>Cta		protein phosphatase 1, regulatory subunit 3A							197	192	193					7																	113518053		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518053C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3094G>C	7.37:g.113518053C>G	ENSP00000284601:p.Val1032Leu						p.V1032L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3162	-			1032					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3094G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552420	0.00918	.	.	ENSG00000154415	ENST00000284601	T	0.14391	2.51	5.71	-1.44	0.08856	.	0.595751	0.16550	N	0.209508	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	10	0.56958	D	0.05	0.0241	0.9691	0.01412	0.2108:0.1318:0.2531:0.4042	.	1032	Q16821	PPR3A_HUMAN	L	1032	ENSP00000284601:V1032L	ENSP00000284601:V1032L	V	-	1	0	PPP1R3A	113305289	0.002000	0.14202	0.000000	0.03702	0.120000	0.20174	-0.006000	0.12833	-0.436000	0.07254	-0.300000	0.09419	GTA		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		163	484	0	0	0	1	0	163	484					G	113518053	C	G	113518053	3	3	37	1	0	0	0	0	1	0	0	0	12418	565	20	5	278	5	PPP1R3A	7	113518053	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	1110681	113518053	45620610	64	4408											
WNT2	7472	broad.mit.edu	37	chr7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-													gattcatcagggctctggcaTcctttcctttcctttccttt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		7	539						7	539	---	---	---	---	-	116955175	TCCTT	-	116955171	7	5	37	1	0	1	0	1	0	0	0	0	17440	1435	50	0	552	0	WNT2	7	116955171	Frame_Shift_Del	DEL	TCCTT	TCGA-3A-A9IZ-01A-12D-A40W-08	3437118	116955171	42183492	65	4409											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			8	674						8	674	---	---	---	---	-	142562309	G	-	142562309	7	5	37	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-3A-A9IZ-01A-12D-A40W-08	25607138	142562309	16576354	66	4410											
ERI1	90459	broad.mit.edu	37	chr8	8875864	8875864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaagtaattgactggAtgaaattgaaggaattagga	10	1	0	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:8875864A>T	ENST00000523898.1	+	6	1319	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	214	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						AATTGACTGGATGAAATTGAA	0.308																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(640-642)Atg>Ttg		exoribonuclease 1	Adenosine monophosphate(DB00131)						53	56	55					8																	8875864		2203	4299	6502	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8875864A>T	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.640A>T	8.37:g.8875864A>T	ENSP00000429615:p.Met214Leu					ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR	p.M214L			Q8IV48	ERI1_HUMAN			6	1319	+			214			Exonuclease.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.640A>T	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152316	0.21371	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.32753	1.44;1.44;1.44	5.83	5.83	0.93111	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.040723	0.85682	D	0.000000	T	0.11495	0.0280	N	0.01446	-0.86	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.18681	-1.0329	10	0.02654	T	1	-25.2268	15.3806	0.74651	1.0:0.0:0.0:0.0	.	214	Q8IV48	ERI1_HUMAN	L	214	ENSP00000429615:M214L;ENSP00000250263:M214L;ENSP00000430190:M214L	ENSP00000250263:M214L	M	+	1	0	ERI1	8913274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.856000	0.69518	2.220000	0.72140	0.459000	0.35465	ATG		0.308	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		55	179	0	0	0	1	0	55	179					T	8875864	A	T	8875864	3	4	37	1	0	0	0	0	1	0	0	0	5245	333	12	5	658	5	ERI1	8	8875864	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08		8875864	137488158	67	4411											
MTMR9	66036	broad.mit.edu	37	chr8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-													cagtactaagctattaccacAaaaaaaatgggatggtaagt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(577-579)aafs		myotubularin related protein 9							97	82	87					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11162509delA	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs					MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	p.K194fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	4	1050	+			194	K -> R (in Ref. 2; BAA91170).		Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	c.577delA	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		7	258						7	258	---	---	---	---	-	11162509	A	-	11162509	7	5	37	1	0	1	0	1	0	0	0	0	9991	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Del	DEL	A	TCGA-3A-A9IZ-01A-12D-A40W-08	2286645	11162509	135201513	68	4412											
PTDSS1	9791	broad.mit.edu	37	chr8	97342493	97342493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttggtatgcagaacactAtggtcaccgagaaaaggtat	11	6	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:97342493A>G	ENST00000517309.1	+	11	1552	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	409					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GCAGAACACTATGGTCACCGA	0.463																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1225-1227)tAt>tGt		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						129	113	119					8																	97342493		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97342493A>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1226A>G	8.37:g.97342493A>G	ENSP00000430548:p.Tyr409Cys					PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C|PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C	p.Y409C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			11	1552	+	Breast(36;6.18e-05)		409					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1226A>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	8.633	0.894173	0.17613	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.46451	0.93;0.93;0.87	5.6	0.454	0.16644	.	0.185282	0.49916	N	0.000121	T	0.19005	0.0456	N	0.04959	-0.14	0.48185	D	0.999601	B	0.06786	0.001	B	0.06405	0.002	T	0.03922	-1.0992	10	0.38643	T	0.18	-3.7125	8.5488	0.33438	0.5948:0.0:0.4052:0.0	.	409	P48651	PTSS1_HUMAN	C	409;263;206	ENSP00000430548:Y409C;ENSP00000401248:Y263C;ENSP00000430928:Y206C	ENSP00000401248:Y263C	Y	+	2	0	PTDSS1	97411669	0.554000	0.26522	0.933000	0.37362	0.785000	0.44390	0.481000	0.22260	0.080000	0.16959	-0.411000	0.06167	TAT		0.463	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			51	239	0	0	0	1	0	51	239					G	97342493	A	G	97342493	3	3	37	1	0	0	0	0	1	0	0	0	12783	449	16	4	1268	4	PTDSS1	8	97342493	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	86179984	97342493	49021529	69	4413											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		9	1306						9	1306	---	---	---	---	-	105440214	T	-	105440214	7	5	37	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-3A-A9IZ-01A-12D-A40W-08	8097721	105440214	40923808	70	4414											
OXR1	55074	broad.mit.edu	37	chr8	107705020	107705020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactggtattcgacctgcacGagttgtatcttcaacttctg	8	11	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107705020G>A	ENST00000442977.2	+	6	692	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000445937.1_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	198					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CGACCTGCACGAGTTGTATCT	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(589-591)cGa>cAa		oxidation resistance 1							79	81	80					8																	107705020		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107705020G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.593G>A	8.37:g.107705020G>A	ENSP00000405424:p.Arg198Gln					OXR1_ENST00000442977.2_Missense_Mutation_p.R198Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q	p.R197Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	851	+			198					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.590G>A	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.008905|4.008905	0.75046|0.75046	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.25414	.|2.62;2.62;2.61;2.61;1.8;2.64	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.52692	.|0.903;0.843;0.955;0.955	.|B;B;P;B	.|0.47299	.|0.283;0.147;0.543;0.392	T|T	0.06338|0.06338	-1.0832|-1.0832	5|10	.|0.46703	.|T	.|0.11	-14.7806|-14.7806	17.9993|17.9993	0.89194|0.89194	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;198;130;197	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	K|Q	114|197;197;197;198;130;190	.|ENSP00000402918:R197Q;ENSP00000431966:R197Q;ENSP00000429205:R197Q;ENSP00000405424:R198Q;ENSP00000431014:R130Q;ENSP00000311026:R190Q	.|ENSP00000311026:R190Q	E|R	+|+	1|2	0|0	OXR1|OXR1	107774196|107774196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.329000|0.329000	0.28539|0.28539	7.352000|7.352000	0.79404|0.79404	2.336000|2.336000	0.79503|0.79503	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		89	336	0	0	0	1	0	89	336					A	107705020	G	A	107705020	3	1	37	1	0	0	0	0	1	0	0	0	11376	1058	37	1	815	1	OXR1	8	107705020	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	2264806	107705020	38659002	71	4415											
ABRA	137735	broad.mit.edu	37	chr8	107782407	107782407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccccgctttccttttcGcccggagccatgctgcccac	7	21	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107782407G>A	ENST00000311955.3	-	1	66	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCCTTTTCGCCCGGAGCCA	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(10-12)ggC>ggT		actin-binding Rho activating protein																																				SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782407G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.12C>T	8.37:g.107782407G>A							p.G4G	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	66	-			4						Silent	SNP	ENST00000311955.3	37	c.12C>T	CCDS6305.1																																																																																				0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		9	320	0	0	0	1	0	9	320					A	107782407	G	A	107782407	2	1	37	1	0	0	0	0	0	0	0	1	100	1074	38	1		1	ABRA	8	107782407	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	77387	107782407	38581615	72	4416											
ATAD2	29028	broad.mit.edu	37	chr8	124382161	124382161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcttcatcatcttcAtcatcatcatcatcatcatc	0	14	13	0	rs374184884|rs200740522		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:124382161A>T	ENST00000287394.5	-	7	938	c.831T>A	c.(829-831)gaT>gaA	p.D277E	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	277	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcttcatcatcatcat	0.378																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(829-831)gaT>gaA		ATPase family, AAA domain containing 2							260	198	219					8																	124382161		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382161A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.831T>A	8.37:g.124382161A>T	ENSP00000287394:p.Asp277Glu					ATAD2_ENST00000521903.1_5'UTR	p.D277E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	938	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		277			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.831T>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.395093	0.01175	.	.	ENSG00000156802	ENST00000287394	T	0.36878	1.23	2.96	-5.93	0.02254	.	1.823030	0.01885	N	0.038140	T	0.13970	0.0338	N	0.11560	0.145	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.002;0.006	T	0.46076	-0.9217	10	0.02654	T	1	-0.567	3.02	0.06072	0.3781:0.0:0.3089:0.313	.	107;277	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	277	ENSP00000287394:D277E	ENSP00000287394:D277E	D	-	3	2	ATAD2	124451342	0.851000	0.29673	0.008000	0.14137	0.003000	0.03518	-0.079000	0.11357	-1.532000	0.01747	-1.586000	0.00850	GAT		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		4	210	0	0	0	1	0	4	210					T	124382161	A	T	124382161	3	4	37	1	0	0	0	0	1	0	0	0	1072	214	8	5	3429	5	ATAD2	8	124382161	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	16599754	124382161	21981861	73	4417											
SLC45A4	57210	broad.mit.edu	37	chr8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-													ggcctgcctgcggaacgcgtGccgccgccgccgcatggagc					rs368794575		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:142228490_142228492delGCC	ENST00000024061.3	-	4	1401_1403	c.1094_1096delGGC	c.(1093-1098)cggcac>cac	p.R365del	SLC45A4_ENST00000517878.1_In_Frame_Del_p.R416del|SLC45A4_ENST00000519067.1_In_Frame_Del_p.R365del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.R358del	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGAACGCGTGCCGCCGCCGCCG	0.675																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1093-1098)cac>c		solute carrier family 45, member 4																																				SO:0001651	inframe_deletion	57210				transport	integral to membrane		g.chr8:142228490_142228492delGCC	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1094_1096delGGC	8.37:g.142228499_142228501delGCC	ENSP00000024061:p.Arg365del					SLC45A4_ENST00000024061.3_In_Frame_Del_p.RH365del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.RH358del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.RH416del	p.RH365del			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1397_1399	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		416					Q6ZRI2|Q9ULU3	In_Frame_Del	DEL	ENST00000024061.3	37	c.1094_1096delGGC	CCDS34948.1																																																																																				0.675	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		7	455						7	455	---	---	---	---	-	142228492	GCC	-	142228490	7	5	37	1	0	1	0	1	0	0	0	0	14693	1319	46	0	1320	0	SLC45A4	8	142228490	In_Frame_Del	DEL	GCC	TCGA-3A-A9IZ-01A-12D-A40W-08	17846329	142228490	4135532	74	4418											
FBXL6	26233	broad.mit.edu	37	chr8	145580308	145580308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgacaggcagctgaagGggaatgctattacggttgat	14	8	0	2	rs148685592		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:145580308G>A	ENST00000331890.5	-	6	1009	c.945C>T	c.(943-945)ccC>ccT	p.P315P	TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.P309P|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	315					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCAGCTGAAGGGGAATGCTAT	0.647																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(943-945)ccC>ccT		F-box and leucine-rich repeat protein 6		G	,	1,4405	2.1+/-5.4	0,1,2202	80	80	80		945,927	-1.7	0.7	8	dbSNP_134	80	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	FBXL6	NM_012162.1,NM_024555.3	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	315/540,309/534	145580308	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580308G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.945C>T	8.37:g.145580308G>A						FBXL6_ENST00000455319.2_Silent_p.P309P|FBXL6_ENST00000526524.1_5'UTR	p.P315P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		6	1009	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		315					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.945C>T	CCDS6422.1																																																																																				0.647	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		6	571	0	0	0	1	0	6	571					A	145580308	G	A	145580308	2	1	37	1	0	0	0	0	0	0	0	1	5748	1219	43	2		2	FBXL6	8	145580308	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	3351818	145580308	783714	75	4419											
PRUNE2	158471	broad.mit.edu	37	chr9	79318726	79318726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctttcatttaaggaGgctggctgacatgtgtctgg	11	8	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:79318726G>A	ENST00000376718.3	-	9	7926	c.7803C>T	c.(7801-7803)gcC>gcT	p.A2601A	PRUNE2_ENST00000428286.1_Silent_p.A2242A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2601					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATTTAAGGAGGCTGGCTGAC	0.428																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6724-6726)gcC>gcT		prune homolog 2 (Drosophila)							96	89	91					9																	79318726		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318726G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7803C>T	9.37:g.79318726G>A						PRUNE2_ENST00000376718.3_Silent_p.A2601A	p.A2242A			Q8WUY3	PRUN2_HUMAN			9	7926	-			2601					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6726C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.478	-0.320244	0.05386	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.61	-1.16	0.09678	.	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-2.112	0.8443	0.01157	0.2855:0.1178:0.3678:0.229	.	.	.	.	F	1923	.	.	L	-	1	0	PRUNE2	78508546	0.010000	0.17322	0.001000	0.08648	0.460000	0.32559	0.028000	0.13644	-0.216000	0.10048	-0.218000	0.12543	CTC		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		78	225	0	0	0	1	0	78	225					A	79318726	G	A	79318726	2	1	37	1	0	0	0	0	0	0	0	1	12688	987	35	2		2	PRUNE2	9	79318726	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		79318726	61894705	76	4420											
C9orf79	286234	broad.mit.edu	37	chr9	90501079	90501079	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagaggacacagtctgtCatccccactggaaaggagta	12	10	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:90501079C>T	ENST00000325643.5	+	4	1743	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	559					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACAGTCTGTCATCCCCACTG	0.547																																						ENST00000325643.5																			0											c.(1675-1677)gtC>gtT		SPATA31 subfamily E, member 1							107	114	111					9																	90501079		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90501079C>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.1677C>T	9.37:g.90501079C>T							p.V559V	NM_178828.4	NP_849150.3					4	1743	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1677C>T	CCDS6676.1																																																																																				0.547	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		25	750	0	0	0	1	0	25	750					T	90501079	C	T	90501079	2	4	37	1	0	0	0	0	0	0	0	1	2504	813	29	2		2	C9orf79	9	90501079	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	11182353	90501079	50712352	77	4421											
PPP3R2	116443	broad.mit.edu	37	chr9	104357018	104357018	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccatcaccgtcggtgtcGaagacgtcgatcactcgccg	10	15	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:104357018G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.F65F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGTCGGTGTCGAAGACGTCGA	0.577																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(193-195)ttC>ttT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						82	79	80					9																	104357018		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357018G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15376C>T	9.37:g.104357018G>A						GRIN3A_ENST00000361820.3_Intron	p.F65F	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	265	-		Acute lymphoblastic leukemia(62;0.0527)	62			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.195C>T	CCDS6758.1																																																																																				0.577	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			96	267	0	0	0	1	0	96	267					A	104357018	G	A	104357018	1	1	37	0	1	0	0	0	0	0	0	0	12448	1049	37	1		1	PPP3R2	9	104357018	Intron	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	13855939	104357018	36856413	78	4422											
NOTCH1	4851	broad.mit.edu	37	chr9	139412288	139412288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgagacgcactcgttgaCgtcgatctcgcatcgggggc	14	12	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:139412288C>T	ENST00000277541.6	-	8	1432	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	453	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGTTGACGTCGATCTCG	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1357-1359)Gtc>Atc		notch 1							57	63	61					9																	139412288		2176	4267	6443	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412288C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1357G>A	9.37:g.139412288C>T	ENSP00000277541:p.Val453Ile	HNSCC(8;0.001)					p.V453I	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1432	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	453			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1357G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192406	0.09599	.	.	ENSG00000148400	ENST00000277541	D	0.87103	-2.21	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202030	0.42682	D	0.000678	T	0.67249	0.2873	N	0.02120	-0.675	0.43588	D	0.995933	P	0.35363	0.497	B	0.34418	0.182	T	0.72953	-0.4135	10	0.02654	T	1	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	453	P46531	NOTC1_HUMAN	I	453	ENSP00000277541:V453I	ENSP00000277541:V453I	V	-	1	0	NOTCH1	138532109	0.997000	0.39634	0.990000	0.47175	0.788000	0.44548	0.789000	0.26886	2.088000	0.63022	0.462000	0.41574	GTC		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		73	235	0	0	0	1	0	73	235					T	139412288	C	T	139412288	3	4	37	1	0	0	0	0	1	0	0	0	10589	536	19	1	6418	1	NOTCH1	9	139412288	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	35055270	139412288	1801143	79	4423											
CUBN	8029	broad.mit.edu	37	chr10	16882333	16882333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttataattgttacctgcGgtgagtcctgaagctgtaag	10	7	1	2	rs150358307	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:16882333G>A	ENST00000377833.4	-	62	10093	c.10028C>T	c.(10027-10029)cCg>cTg	p.P3343L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3343	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTACCTGCGGTGAGTCCTG	0.423													G|||	5	0.000998403	0.0	0.0	5008	,	,		16306	0.001		0.0	False		,,,				2504	0.0041					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10027-10029)cCg>cTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	LEU/PRO	0,4406		0,0,2203	94	80	85		10028	0.6	0.1	10	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CUBN	NM_001081.3	98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	3343/3624	16882333	4,13002	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882333G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10028C>T	10.37:g.16882333G>A	ENSP00000367064:p.Pro3343Leu						p.P3343L	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	10093	-			3343			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10028C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431511	0.12045	0.0	4.65E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17054	2.3	4.74	0.6	0.17524	CUB (5);	0.659654	0.12465	N	0.466572	T	0.16085	0.0387	M	0.71581	2.175	0.09310	N	0.999999	P	0.46912	0.886	B	0.40410	0.328	T	0.14755	-1.0461	10	0.36615	T	0.2	.	3.4857	0.07618	0.1517:0.1351:0.5736:0.1397	.	3343	O60494	CUBN_HUMAN	L	3343;184	ENSP00000367064:P3343L	ENSP00000367064:P3343L	P	-	2	0	CUBN	16922339	0.602000	0.26916	0.058000	0.19502	0.142000	0.21351	1.757000	0.38400	0.061000	0.16311	0.561000	0.74099	CCG		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		56	169	0	0	0	1	0	56	169					A	16882333	G	A	16882333	3	1	37	1	0	0	0	0	1	0	0	0	4062	1116	39	1	867	1	CUBN	10	16882333	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		16882333	118652414	80	4424											
KIAA1274	27143	broad.mit.edu	37	chr10	72289039	72289039	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgctcaaggctcattaCacgttgggccggctctcgga	13	12	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:72289039C>A	ENST00000263563.6	+	3	508	c.240C>A	c.(238-240)taC>taA	p.Y80*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	80						cytosol (GO:0005829)											AGGCTCATTACACGTTGGGCC	0.612																																						ENST00000263563.6																			0											c.(238-240)taC>taA		phosphatase domain containing, paladin 1							82	67	72					10																	72289039		2203	4300	6503	SO:0001587	stop_gained	27143							g.chr10:72289039C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.240C>A	10.37:g.72289039C>A	ENSP00000263563:p.Tyr80*						p.Y80*	NM_014431.2	NP_055246.2					3	508	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	c.240C>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.677826	0.96764	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.03	2.18	0.27775	.	0.060096	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.6574	8.285	0.31924	0.0:0.6133:0.0:0.3867	.	.	.	.	X	80	.	ENSP00000263563:Y80X	Y	+	3	2	KIAA1274	71959045	1.000000	0.71417	0.865000	0.33974	0.600000	0.36913	1.048000	0.30379	0.257000	0.21650	-0.137000	0.14449	TAC		0.612	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		28	90	1	0	1.61788e-16	1	1.67211e-16	28	90					A	72289039	C	A	72289039	4	1	37	1	0	0	0	0	0	1	0	0	8250	489	17	3	246	3	KIAA1274	10	72289039	Nonsense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	55406706	72289039	63245708	81	4425											
ARHGAP19	84986	broad.mit.edu	37	chr10	99024599	99024599	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttgtgtagatactcAatcagttggtatatctgggc	9	6	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:99024599A>T	ENST00000358531.4	-	3	415	c.387T>A	c.(385-387)atT>atA	p.I129I	ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19_ENST00000371027.1_Silent_p.I120I	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	129	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GTAGATACTCAATCAGTTGGT	0.368																																						ENST00000453547.2																			0											c.(385-387)atT>atA									97	95	96					10																	99024599		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:99024599A>T	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.387T>A	10.37:g.99024599A>T						ARHGAP19_ENST00000358531.4_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19_ENST00000371027.1_Silent_p.I120I	p.I129I							3	386	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Silent	SNP	ENST00000358531.4	37	c.387T>A	CCDS7454.2																																																																																				0.368	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		68	111	0	0	0	1	0	68	111					T	99024599	A	T	99024599	2	4	37	1	0	0	0	0	0	0	0	1	869	126	5	5		5	ARHGAP19	10	99024599	Silent	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	26735560	99024599	36510148	82	4426											
C10orf76	79591	broad.mit.edu	37	chr10	103792843	103792843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagcctggatgcagtgttgGaataagcaattaatattgtc	11	5	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:103792843G>C	ENST00000370033.4	-	4	365	c.246C>G	c.(244-246)ttC>ttG	p.F82L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	82						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGCAGTGTTGGAATAAGCAAT	0.453																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(244-246)ttC>ttG		chromosome 10 open reading frame 76							115	109	111					10																	103792843		1924	4139	6063	SO:0001583	missense	79591					integral to membrane		g.chr10:103792843G>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.246C>G	10.37:g.103792843G>C	ENSP00000359050:p.Phe82Leu					C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	4	365	-		Colorectal(252;0.123)	82					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.246C>G	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339757	0.60963	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.61274	0.12;2.32	6.15	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.56124	1.755	0.80722	D	1	P;D	0.71674	0.528;0.998	B;D	0.76071	0.128;0.987	T	0.62765	-0.6785	10	0.45353	T	0.12	-17.9247	8.6237	0.33877	0.5511:0.0:0.4489:0.0	.	82;82	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	L	82	ENSP00000359050:F82L;ENSP00000312408:F82L	ENSP00000312408:F82L	F	-	3	2	C10orf76	103782833	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.090000	0.30902	0.455000	0.26910	-0.366000	0.07423	TTC		0.453	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		10	313	0	0	0	1	0	10	313					C	103792843	G	C	103792843	3	2	37	1	0	0	0	0	1	0	0	0	1621	1165	41	5	1915	5	C10orf76	10	103792843	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	4768244	103792843	31741904	83	4427											
ATRNL1	26033	broad.mit.edu	37	chr10	117221467	117221474	+	Frame_Shift_Del	DEL	TTATCAAT	TTATCAAT	-													acagacagccttttgattgaTtatcaatttaccttcagctt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:117221467_117221474delTTATCAAT	ENST00000355044.3	+	22	3465_3472	c.3339_3346delTTATCAAT	c.(3337-3348)gattatcaatttfs	p.YQF1114fs	ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1114					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTGATTGATTATCAATTTACCTTCAG	0.322																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3337-3348)gattfs		attractin-like 1																																				SO:0001589	frameshift_variant	26033					integral to membrane	sugar binding	g.chr10:117221467_117221474delTTATCAAT	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3339_3346delTTATCAAT	10.37:g.117221467_117221474delTTATCAAT	ENSP00000347152:p.Tyr1114fs					ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.DYQF164fs	p.DYQF1113fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	22	3465_3472	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1113					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	ENST00000355044.3	37	c.3339_3346delTTATCAAT	CCDS7592.1																																																																																				0.322	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		50	256						50	256	---	---	---	---	-	117221474	TTATCAAT	-	117221467	7	5	37	1	0	1	0	1	0	0	0	0	1208	1490	52	0	3425	0	ATRNL1	10	117221467	Frame_Shift_Del	DEL	TTATCAAT	TCGA-3A-A9IZ-01A-12D-A40W-08	13428624	117221467	18313280	84	4428											
OR51A7	119687	broad.mit.edu	37	chr11	4928955	4928955	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagtacttctaattatgtCtttggaccgctttcttgcca	6	11	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:4928955C>A	ENST00000359350.4	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTATGTCTTTGGACCGC	0.403																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(355-357)tCt>tAt		olfactory receptor, family 51, subfamily A, member 7							108	101	103					11																	4928955		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928955C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.356C>A	11.37:g.4928955C>A	ENSP00000352305:p.Ser119Tyr					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S119Y	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	356	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.356C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377814	0.61735	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.81415	-1.49	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.145141	0.32328	N	0.006243	D	0.92463	0.7607	H	0.94808	3.585	0.31719	N	0.6385	D	0.89917	1.0	D	0.76575	0.988	D	0.93516	0.6857	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	119	Q8NH64	O51A7_HUMAN	Y	119;119;108	ENSP00000352305:S119Y	ENSP00000352305:S119Y	S	+	2	0	OR51A7	4885531	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	5.325000	0.65869	2.596000	0.87737	0.655000	0.94253	TCT		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		141	211	1	0	8.19216e-75	1	8.7604e-75	141	211					A	4928955	C	A	4928955	3	1	37	1	0	0	0	0	1	0	0	0	11130	913	32	3	358	3	OR51A7	11	4928955	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		4928955	130077561	85	4429											
ZNF215	7762	broad.mit.edu	37	chr11	6953847	6953847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttacaacatccaaacaAcagtaaagatatggtgaccc	6	9	0	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:6953847A>G	ENST00000278319.5	+	3	932	c.344A>G	c.(343-345)aAc>aGc	p.N115S	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S|ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCCAAACAACAGTAAAGAT	0.378																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(343-345)aAc>aGc		zinc finger protein 215							59	63	61					11																	6953847		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6953847A>G	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.344A>G	11.37:g.6953847A>G	ENSP00000278319:p.Asn115Ser					ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S|ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S	p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	3	932	+			115			SCAN box.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.344A>G	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	6.216	0.407981	0.11754	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04015	3.73;3.73;3.73	4.14	0.197	0.15164	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.168848	0.28166	N	0.016350	T	0.02342	0.0072	N	0.13352	0.335	0.22903	N	0.998588	B;B;B	0.32409	0.248;0.37;0.181	B;B;B	0.35770	0.112;0.21;0.074	T	0.44682	-0.9312	10	0.05959	T	0.93	-7.9422	6.3872	0.21568	0.6446:0.0:0.3554:0.0	.	115;115;115	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	S	115	ENSP00000278319:N115S;ENSP00000393202:N115S;ENSP00000432306:N115S	ENSP00000278319:N115S	N	+	2	0	ZNF215	6910423	0.062000	0.20869	0.987000	0.45799	0.144000	0.21451	-0.089000	0.11180	0.022000	0.15160	0.533000	0.62120	AAC		0.378	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			28	141	0	0	0	1	0	28	141					G	6953847	A	G	6953847	3	3	37	1	0	0	0	0	1	0	0	0	17824	43	2	4	346	4	ZNF215	11	6953847	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	2024892	6953847	128052669	86	4430											
KCNA4	3739	broad.mit.edu	37	chr11	30032887	30032887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggaatactcggaccagacGaatgattctgaggatggcaa	12	9	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:30032887G>A	ENST00000328224.6	-	2	2572	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	447					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGGACCAGACGAATGATTCTG	0.587																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1339-1341)Cgt>Tgt		potassium voltage-gated channel, shaker-related subfamily, member 4							68	66	67					11																	30032887		2055	4222	6277	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032887G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1339C>T	11.37:g.30032887G>A	ENSP00000328511:p.Arg447Cys						p.R447C	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2572	-			447						Missense_Mutation	SNP	ENST00000328224.6	37	c.1339C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745893	0.69418	.	.	ENSG00000182255	ENST00000328224	D	0.99259	-5.64	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96415	0.9307	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	447	P22459	KCNA4_HUMAN	C	447	ENSP00000328511:R447C	ENSP00000328511:R447C	R	-	1	0	KCNA4	29989463	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	9.869000	0.99810	2.491000	0.84063	0.650000	0.86243	CGT		0.587	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		12	230	0	0	0	1	0	12	230					A	30032887	G	A	30032887	3	1	37	1	0	0	0	0	1	0	0	0	8035	1058	37	1	626	1	KCNA4	11	30032887	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	23079040	30032887	104973629	87	4431											
OR9Q2	219957	broad.mit.edu	37	chr11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacacaggccagtcctccGagggagaccgagtggtgtct	13	12	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E269K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCAGTCCTCCGAGGGAGACCG	0.552																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.E269K(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(805-807)Gag>Aag		olfactory receptor, family 9, subfamily Q, member 2							101	93	96					11																	57958767		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958767G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.805G>A	11.37:g.57958767G>A	ENSP00000308714:p.Glu269Lys						p.E269K	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	862	+		Breast(21;0.0589)	269						Missense_Mutation	SNP	ENST00000311591.3	37	c.805G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107203	0.20714	.	.	ENSG00000186513	ENST00000311591	T	0.00099	8.73	5.09	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.463064	0.18027	N	0.154059	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.27932	0.194	B	0.22601	0.04	T	0.21042	-1.0257	10	0.59425	D	0.04	-9.1453	9.2658	0.37641	0.0947:0.1872:0.7181:0.0	.	269	Q8NGE9	OR9Q2_HUMAN	K	269	ENSP00000308714:E269K	ENSP00000308714:E269K	E	+	1	0	OR9Q2	57715343	0.006000	0.16342	0.072000	0.20136	0.347000	0.29111	1.109000	0.31135	1.338000	0.45544	0.655000	0.94253	GAG		0.552	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		80	287	0	0	0	1	0	80	287					A	57958767	G	A	57958767	3	1	37	1	0	0	0	0	1	0	0	0	11298	1059	37	1	807	1	OR9Q2	11	57958767	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	27925880	57958767	77047749	88	4432											
OR1S2	219958	broad.mit.edu	37	chr11	57970714	57970714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgatgagctttctcaGggcacctttcatatccttat	6	10	3	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57970714G>A	ENST00000302592.6	-	1	939	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCTTTCTCAGGGCACCTTTC	0.418																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(940-942)Ctg>Ttg		olfactory receptor, family 1, subfamily S, member 2							135	137	136					11																	57970714		2201	4294	6495	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970714G>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.940C>T	11.37:g.57970714G>A							p.L314L	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	939	-		Breast(21;0.0589)	314					Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.940C>T	CCDS31545.1																																																																																				0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		7	642	0	0	0	1	0	7	642					A	57970714	G	A	57970714	2	1	37	1	0	0	0	0	0	0	0	1	11015	991	35	2		2	OR1S2	11	57970714	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	11947	57970714	77035802	89	4433											
PLEKHB1	58473	broad.mit.edu	37	chr11	73364058	73364058	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggcaaactccacccCggtgagtctcccgttctctc	10	16	2	1	rs376023362		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:73364058C>G	ENST00000354190.5	+	5	820	c.389C>G	c.(388-390)cCg>cGg	p.P130R	PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R|PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	130					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACTCCACCCCGGTGAGTCTC	0.582																																						ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.e5+1		pleckstrin homology domain containing, family B (evectins) member 1							73	87	83					11																	73364058		1944	4134	6078	SO:0001630	splice_region_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73364058C>G	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.390+1C>G	11.37:g.73364058C>G						PLEKHB1_ENST00000535129.1_Splice_Site_p.P111_splice|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111_splice|PLEKHB1_ENST00000227214.6_Splice_Site_p.P111_splice|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130_splice|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60_splice	p.P130_splice	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			5	820	+			130					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Splice_Site	SNP	ENST00000354190.5	37	c.390_splice	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668309	0.29604	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000539157;ENST00000546251;ENST00000535582;ENST00000538227;ENST00000539549;ENST00000542185;ENST00000543524;ENST00000541597;ENST00000535129;ENST00000542389;ENST00000540431	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.53	3.62	0.41486	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.176334	0.50627	D	0.000115	T	0.41236	0.1150	L	0.38175	1.15	0.39250	D	0.964026	D;D;D;P	0.89917	0.975;1.0;1.0;0.954	D;D;D;P	0.91635	0.943;0.999;0.999;0.819	T	0.35325	-0.9793	10	0.54805	T	0.06	-18.4952	8.962	0.35854	0.0:0.901:0.0:0.099	.	111;134;130;130	F5GXN2;Q59EU5;Q9UF11-2;Q9UF11	.;.;.;PKHB1_HUMAN	R	130;130;111;111;60;118;111;111;111;111;111;111;111;111;111;118	ENSP00000346127:P130R;ENSP00000381505:P130R;ENSP00000227214:P111R;ENSP00000381507:P111R;ENSP00000441224:P60R;ENSP00000445990:P118R;ENSP00000439714:P111R;ENSP00000438809:P111R;ENSP00000445807:P111R;ENSP00000444453:P111R;ENSP00000442136:P111R;ENSP00000442616:P111R;ENSP00000440102:P111R;ENSP00000441558:P118R	ENSP00000227214:P111R	P	+	2	0	PLEKHB1	73041706	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	1.837000	0.39201	1.517000	0.48917	-0.133000	0.14855	CCG		0.582	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1		Missense_Mutation	10	142	0	0	0	1	0	10	142					G	73364058	C	G	73364058	5	3	37	1	0	0	0	0	0	0	1	0	12106	666	23	5	407	5	PLEKHB1	11	73364058	Splice_Site	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	15393344	73364058	61642458	90	4434											
POLD3	10714	broad.mit.edu	37	chr11	74336608	74336609	+	Frame_Shift_Ins	INS	-	-	A													tgttaaggtgctgcagaaggINSaaaaaaaaaggtaggaaaat					rs375954131		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:74336608_74336609insA	ENST00000263681.2	+	8	1018_1019	c.889_890insA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Ins_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTGCAGAAGGAAAAAAAAAGG	0.46																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(889-891)aaafs		polymerase (DNA-directed), delta 3, accessory subunit																																				SO:0001589	frameshift_variant	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74336608_74336609insA	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.898dupA	11.37:g.74336617_74336617dupA	ENSP00000263681:p.Glu297fs					POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs|POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs	p.K297fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			8	1018_1019	+	Breast(11;3.21e-06)		297					B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Ins	INS	ENST00000263681.2	37	c.889_890insA	CCDS8233.1																																																																																				0.46	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		8	251						8	251	---	---	---	---	A	74336609	-	A	74336608	7	5	37	1	0	1	1	0	0	0	0	0	12234	1175	41	0	919	0	POLD3	11	74336608	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	972550	74336608	60669908	91	4435											
PANX1	24145	broad.mit.edu	37	chr11	93911725	93911725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgagagatggagcctgctCagttccaggtgttaccgaga	13	9	1	3	rs543769570		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:93911725C>T	ENST00000227638.3	+	3	897	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	171					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GGAGCCTGCTCAGTTCCAGGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20536	0.0		0.0	False		,,,				2504	0.001					ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(511-513)tCa>tTa		pannexin 1							74	65	68					11																	93911725		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911725C>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.512C>T	11.37:g.93911725C>T	ENSP00000227638:p.Ser171Leu					PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			3	897	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	171					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.512C>T	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789449	0.31685	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.26957	1.7;1.7	5.05	5.05	0.67936	.	0.838115	0.11120	N	0.597512	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B	0.20164	0.042;0.034	B;B	0.25506	0.061;0.036	T	0.14035	-1.0487	10	0.25106	T	0.35	-1.3263	13.7438	0.62863	0.0:0.9231:0.0:0.0769	.	171;171	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	171	ENSP00000227638:S171L;ENSP00000411461:S171L	ENSP00000227638:S171L	S	+	2	0	PANX1	93551373	0.002000	0.14202	0.154000	0.22540	0.125000	0.20455	1.502000	0.35704	2.342000	0.79632	0.563000	0.77884	TCA		0.483	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		86	289	0	0	0	1	0	86	289					T	93911725	C	T	93911725	3	4	37	1	0	0	0	0	1	0	0	0	11462	838	29	2	522	2	PANX1	11	93911725	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	19575117	93911725	41094791	92	4436											
MLL	4297	broad.mit.edu	37	chr11	118375293	118375293	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgtgaaaaagacatgggtCtttttgaagtattttctcag	9	5	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:118375293C>A	ENST00000389506.5	+	27	8677	c.8677C>A	c.(8677-8679)Ctt>Att	p.L2893I	KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I|KMT2A_ENST00000534358.1_Missense_Mutation_p.L2896I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2893					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGACATGGGTCTTTTTGAAGT	0.453																																						ENST00000534358.1																			0											c.(8686-8688)Ctt>Att		lysine (K)-specific methyltransferase 2A							186	175	179					11																	118375293		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118375293C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8677C>A	11.37:g.118375293C>A	ENSP00000374157:p.Leu2893Ile					KMT2A_ENST00000389506.5_Missense_Mutation_p.L2893I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I	p.L2896I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	8709	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8686C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098947	0.37048	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.88896	-2.44;-2.44;-2.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	L	0.48642	1.525	0.58432	D	0.999997	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.91272	0.5045	10	0.87932	D	0	.	10.7375	0.46133	0.0:0.8567:0.0:0.1433	.	2896;2893	E9PQG7;Q03164	.;MLL1_HUMAN	I	2896;2893;2855;1803	ENSP00000436786:L2896I;ENSP00000374157:L2893I;ENSP00000346516:L2855I	ENSP00000346516:L2855I	L	+	1	0	MLL	117880503	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	1.890000	0.39728	2.941000	0.99782	0.655000	0.94253	CTT		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		246	905	1	0	4.24492e-87	1	4.56576e-87	246	905					A	118375293	C	A	118375293	3	1	37	1	0	0	0	0	1	0	0	0	9661	913	32	3	8783	3	MLL	11	118375293	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	24463568	118375293	16631223	93	4437											
PRMT8	56341	broad.mit.edu	37	chr12	3649855	3649855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatgtgtccactcaaccCagctgcccaggacggggcaa	10	15	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:3649855C>A	ENST00000382622.3	+	2	549	c.159C>A	c.(157-159)ccC>ccA	p.P53P	PRMT8_ENST00000452611.2_Silent_p.P44P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	53					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTCAACCCAGCTGCCCAG	0.602																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(157-159)ccC>ccA		protein arginine methyltransferase 8							186	190	189					12																	3649855		2203	4300	6503	SO:0001819	synonymous_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649855C>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.159C>A	12.37:g.3649855C>A						PRMT8_ENST00000452611.2_Silent_p.P44P|PRMT8_ENST00000261252.4_3'UTR	p.P53P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	549	+			53					B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	c.159C>A	CCDS8521.2																																																																																				0.602	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		251	647	1	0	7.11239e-98	1	7.6947e-98	251	647					A	3649855	C	A	3649855	2	1	37	1	0	0	0	0	0	0	0	1	12589	581	21	3		3	PRMT8	12	3649855	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		3649855	130202040	94	4438											
EPS8	2059	broad.mit.edu	37	chr12	15807213	15807213	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggctagttcaggacctccTgttgcctgcaccacctaaga	9	14	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:15807213T>G	ENST00000281172.5	-	13	1552	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	372					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACCTCCTGTTGCCTGCA	0.373																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1114-1116)acA>acC		epidermal growth factor receptor pathway substrate 8							84	76	78					12																	15807213		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807213T>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1116A>C	12.37:g.15807213T>G						EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1552	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	372					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.1116A>C	CCDS31753.1																																																																																				0.373	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			18	307	0	0	0	1	0	18	307					G	15807213	T	G	15807213	2	3	37	1	0	0	0	0	0	0	0	1	5212	1567	55	4		4	EPS8	12	15807213	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	12157358	15807213	118044682	95	4439											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		56	151	0	0	0	1	0	56	151					T	25398284	C	T	25398284	3	4	37	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	9591071	25398284	108453611	96	4440											
CCDC41	51134	broad.mit.edu	37	chr12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccatctgtgaagcccGcaatttctcttcatactgat	6	12	4	2	rs111647062	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		423					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17571	0.0		0.002	False		,,,				2504	0.0					ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1291-1293)Cgg>Tgg		coiled-coil domain containing 41		G	TRP/ARG,TRP/ARG	1,3709		0,1,1854	149	137	141		1291,1291	4.9	1	12	dbSNP_132	141	2,8212		0,2,4105	yes	missense,missense	CCDC41	NM_001042399.1,NM_016122.2	101,101	0,3,5959	AA,AG,GG		0.0243,0.027,0.0252	probably-damaging,probably-damaging	431/702,431/702	94761622	3,11921	1855	4107	5962	SO:0001583	missense	51134							g.chr12:94761622G>A																												ENST00000397809.5:c.1291C>T	12.37:g.94761622G>A	ENSP00000380911:p.Arg431Trp					CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W	p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			11	1840	-			423					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1291C>T	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		0.373	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			6	649	0	0	0	1	0	6	649					A	94761622	G	A	94761622	3	1	37	1	0	0	0	0	1	0	0	0	2820	1086	38	1	842	1	CCDC41	12	94761622	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	69363338	94761622	39090273	97	4441											
WSB2	55884	broad.mit.edu	37	chr12	118481162	118481162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctacttcggcttttgGcttcaaaccctttagggatg	9	9	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:118481162G>C	ENST00000315436.3	-	3	344	c.203C>G	c.(202-204)gCc>gGc	p.A68G	WSB2_ENST00000441406.2_Missense_Mutation_p.A85G|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	68					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGCTTTTGGCTTCAAACCC	0.493																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(202-204)gCc>gGc		WD repeat and SOCS box containing 2							121	128	126					12																	118481162		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118481162G>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.203C>G	12.37:g.118481162G>C	ENSP00000319474:p.Ala68Gly					WSB2_ENST00000441406.2_Missense_Mutation_p.A85G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000544233.1_Intron	p.A68G	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			3	344	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		68					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.203C>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813241	0.32053	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61510	0.33;0.35;0.37;0.1	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.647108	0.14669	N	0.305457	T	0.39145	0.1067	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	10	0.02654	T	1	-15.2412	14.0586	0.64786	0.0:0.152:0.848:0.0	.	68	Q9NYS7	WSB2_HUMAN	G	68;85;70;70	ENSP00000319474:A68G;ENSP00000409131:A85G;ENSP00000439450:A70G;ENSP00000440386:A70G	ENSP00000319474:A68G	A	-	2	0	WSB2	116965545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.925000	0.56484	2.731000	0.93534	0.650000	0.86243	GCC		0.493	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		18	560	0	0	0	1	0	18	560					C	118481162	G	C	118481162	3	2	37	1	0	0	0	0	1	0	0	0	17459	1203	42	5	1039	5	WSB2	12	118481162	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	23719540	118481162	15370733	98	4442											
SBNO1	55206	broad.mit.edu	37	chr12	123834971	123834971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcaagcagtaaatcTtgccctggctccaccatctt	7	13	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:123834971T>C	ENST00000602398.1	-	2	145	c.18A>G	c.(16-18)caA>caG	p.Q6Q	SBNO1_ENST00000602750.1_Silent_p.Q6Q|Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000420886.2_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	6					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGTAAATCTTGCCCTGGCT	0.383																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(16-18)caA>caG		strawberry notch homolog 1 (Drosophila)							200	203	202					12																	123834971		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834971T>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.18A>G	12.37:g.123834971T>C						SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q|SBNO1_ENST00000602398.1_Silent_p.Q6Q	p.Q6Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	1	17	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		6					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.18A>G	CCDS53844.1																																																																																				0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	1123	0	0	0	1	0	6	1123					C	123834971	T	C	123834971	2	2	37	1	0	0	0	0	0	0	0	1	13912	1606	56	4		4	SBNO1	12	123834971	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	5353809	123834971	10016924	99	4443											
SLC15A1	6564	broad.mit.edu	37	chr13	99339977	99339977	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcagggcagctgtcaTtctgcagcagtaaggcaaaa	10	10	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr13:99339977T>C	ENST00000376503.5	-	21	1740	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	562					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCAGCTGTCATTCTGCAGCAG	0.408																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e21-1		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						85	78	80					13																	99339977		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99339977T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1684-1A>G	13.37:g.99339977T>C							p.N562_splice	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			21	1740	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		562					Q5VW82	Splice_Site	SNP	ENST00000376503.5	37	c.1683_splice	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	0.258	-1.001780	0.02128	.	.	ENSG00000088386	ENST00000376503	T	0.01998	4.51	5.45	-5.68	0.02436	Major facilitator superfamily domain, general substrate transporter (1);	1.941670	0.01609	N	0.022434	T	0.00936	0.0031	N	0.02120	-0.675	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45205	-0.9277	10	0.02654	T	1	-29.6666	8.1832	0.31324	0.0:0.3927:0.3876:0.2197	.	562	P46059	S15A1_HUMAN	S	562	ENSP00000365686:N562S	ENSP00000365686:N562S	N	-	2	0	SLC15A1	98137978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-1.882000	0.01122	-0.460000	0.05396	AAT		0.408	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Missense_Mutation	85	142	0	0	0	1	0	85	142					C	99339977	T	C	99339977	5	2	37	1	0	0	0	0	0	0	1	0	14448	1507	52	4	453	4	SLC15A1	13	99339977	Splice_Site	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08		99339977	15829901	100	4444											
PSMB11	122706	broad.mit.edu	37	chr14	23511502	23511502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accatcacctcacctgcctcGggctggcggctgggctgtgc	13	16	2	0	rs201995713		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:23511502G>C	ENST00000408907.2	+	1	127	c.68G>C	c.(67-69)cGg>cCg	p.R23P		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CACCTGCCTCGGGCTGGCGGC	0.637																																						ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(67-69)cGg>cCg		proteasome (prosome, macropain) subunit, beta type, 11							67	79	75					14																	23511502		2088	4215	6303	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511502G>C		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.68G>C	14.37:g.23511502G>C	ENSP00000386212:p.Arg23Pro						p.R23P	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	127	+	all_cancers(95;3.3e-05)		23						Missense_Mutation	SNP	ENST00000408907.2	37	c.68G>C	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432710	0.04669	.	.	ENSG00000222028	ENST00000408907	T	0.27890	1.64	5.53	-11.1	0.00147	.	1.913640	0.03285	N	0.186696	T	0.12774	0.0310	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08617	-1.0713	10	0.27082	T	0.32	-1.412	4.21	0.10507	0.2548:0.2667:0.3906:0.088	.	23	A5LHX3	PSB11_HUMAN	P	23	ENSP00000386212:R23P	ENSP00000386212:R23P	R	+	2	0	PSMB11	22581342	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-2.830000	0.00744	-2.417000	0.00567	-1.044000	0.02363	CGG		0.637	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		9	492	0	0	0	1	0	9	492					C	23511502	G	C	23511502	3	2	37	1	0	0	0	0	1	0	0	0	12723	1116	39	5	70	5	PSMB11	14	23511502	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		23511502	83838038	101	4445											
GALNTL1	57452	broad.mit.edu	37	chr14	69791503	69791503	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgctgcgcacagtgAagaggtaagtccagccatgg	12	13	0	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:69791503A>T	ENST00000337827.4	+	3	757	c.430A>T	c.(430-432)Aag>Tag	p.K144*	GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	144	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCGCACAGTGAAGAGGTAAGT	0.602																																						ENST00000337827.4																			0											c.(430-432)Aag>Tag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							103	76	85					14																	69791503		2203	4300	6503	SO:0001587	stop_gained	57452							g.chr14:69791503A>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.430A>T	14.37:g.69791503A>T	ENSP00000336729:p.Lys144*					GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144*	p.K144*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					3	757	+								Q4KMG3|Q58A55|Q9ULT9	Nonsense_Mutation	SNP	ENST00000337827.4	37	c.430A>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	31	5.084142	0.94100	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	.	.	.	5.93	5.93	0.95920	.	0.041945	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000336729:K144X	K	+	1	0	GALNTL1	68861256	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	8.962000	0.93254	2.271000	0.75665	0.533000	0.62120	AAG		0.602	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		50	117	0	0	0	1	0	50	117					T	69791503	A	T	69791503	4	4	37	1	0	0	0	0	0	1	0	0	6249	247	9	5	440	5	GALNTL1	14	69791503	Nonsense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	46280001	69791503	37558037	102	4446											
RCOR1	23186	broad.mit.edu	37	chr14	103180896	103180896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtttctgccaatgccaCtgctgctaccacggtgctga	11	13	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:103180896C>T	ENST00000570597.1	+	8	986	c.986C>T	c.(985-987)aCt>aTt	p.T329I	RCOR1_ENST00000262241.6_Missense_Mutation_p.T332I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	329	Interaction with KDM1A.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCAATGCCACTGCTGCTACC	0.413																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(994-996)aCt>aTt		REST corepressor 1							104	93	97					14																	103180896		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103180896C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.986C>T	14.37:g.103180896C>T	ENSP00000459789:p.Thr329Ile					RCOR1_ENST00000570597.1_Missense_Mutation_p.T329I	p.T332I	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			8	1221	+			329			Interaction with KDM1A.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.995C>T		.	.	.	.	.	.	.	.	.	.	C	17.53	3.412066	0.62511	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.07	5.16	0.70880	.	0.206697	0.50627	D	0.000108	T	0.35998	0.0951	N	0.22421	0.69	0.51233	D	0.999914	P	0.40032	0.699	B	0.33620	0.167	T	0.26155	-1.0111	9	0.46703	T	0.11	-16.8936	12.052	0.53511	0.1363:0.7327:0.131:0.0	.	329	Q9UKL0	RCOR1_HUMAN	I	329	.	ENSP00000262241:T329I	T	+	2	0	RCOR1	102250649	0.999000	0.42202	0.981000	0.43875	0.985000	0.73830	4.443000	0.59994	1.516000	0.48900	0.655000	0.94253	ACT		0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		6	312	0	0	0	1	0	6	312					T	103180896	C	T	103180896	3	4	37	1	0	0	0	0	1	0	0	0	13232	565	20	2	1016	2	RCOR1	14	103180896	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	33389393	103180896	4168644	103	4447											
FBN1	2200	broad.mit.edu	37	chr15	48766481	48766481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgaagccatcacctgtgtatCcttccttgcacagacagcgg	9	13	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:48766481C>G	ENST00000316623.5	-	34	4636	c.4181G>C	c.(4180-4182)gGa>gCa	p.G1394A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1394	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		Missing (in MFS). {ECO:0000269|PubMed:14695540}.		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)			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)		ACCTGTGTATCCTTCCTTGCA	0.473																																						ENST00000316623.5																			0				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						c.(4180-4182)gGa>gCa		fibrillin 1							145	117	126					15																	48766481		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.chr15:48766481C>G	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.4181G>C	15.37:g.48766481C>G	ENSP00000325527:p.Gly1394Ala						p.G1394A	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	34	4636	-		all_lung(180;0.00279)	1394		Missing (in MFS).	EGF-like 23; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4181G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049649	0.55218	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.92595	-3.07	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.097281	0.64402	D	0.000001	D	0.97636	0.9225	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98621	1.0667	10	0.87932	D	0	.	18.7133	0.91666	0.0:1.0:0.0:0.0	.	1394	P35555	FBN1_HUMAN	A	1394;284	ENSP00000325527:G1394A	ENSP00000325527:G1394A	G	-	2	0	FBN1	46553773	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	7.597000	0.82733	2.753000	0.94483	0.650000	0.86243	GGA		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			73	148	0	0	0	1	0	73	148					G	48766481	C	G	48766481	3	3	37	1	0	0	0	0	1	0	0	0	5727	855	30	5	4566	5	FBN1	15	48766481	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		48766481	53764911	104	4448											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368296	74368296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggtctgctgtaaccaccGctggaggaccgcttctctgc	11	13	2	0	rs542174200	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:74368296G>A	ENST00000290438.3	-	8	635	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	199						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGTAACCACCGCTGGAGGACC	0.572													a|||	5	0.000998403	0.0	0.0	5008	,	,		25968	0.0		0.005	False		,,,				2504	0.0					ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(595-597)Cgg>Tgg		golgin A6 family, member A							83	100	94					15																	74368296		2129	4267	6396	SO:0001583	missense	342096							g.chr15:74368296G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.595C>T	15.37:g.74368296G>A	ENSP00000290438:p.Arg199Trp						p.R199W	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	635	-			199					A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.595C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	g	4.080	0.012757	0.07912	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	1.51	-3.03	0.05429	.	.	.	.	.	T	0.14141	0.0342	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	9	0.29301	T	0.29	.	7.8951	0.29702	0.3992:0.0:0.6008:0.0	.	199	Q9NYA3	GOG6A_HUMAN	W	199	ENSP00000290438:R199W	ENSP00000290438:R199W	R	-	1	2	GOLGA6A	72155349	0.033000	0.19621	0.000000	0.03702	0.015000	0.08874	0.582000	0.23834	-1.064000	0.03172	-1.713000	0.00713	CGG		0.572	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		7	378	0	0	0	1	0	7	378					A	74368296	G	A	74368296	3	1	37	1	0	0	0	0	1	0	0	0	6586	1086	38	1	1530	1	GOLGA6A	15	74368296	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	25601815	74368296	28163096	105	4449											
CYP1A1	1543	broad.mit.edu	37	chr15	75014944	75014944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatcaggacctcagcctcCttgctcacatgctcttccag	6	16	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:75014944C>A	ENST00000379727.3	-	2	693	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	165					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTCAGCCTCCTTGCTCACAT	0.572									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(493-495)aaG>aaT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						79	76	77					15																	75014944		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014944C>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.495G>T	15.37:g.75014944C>A	ENSP00000369050:p.Lys165Asn					CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron	p.K165N			P04798	CP1A1_HUMAN			2	693	-			165					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.495G>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580074	0.28180	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69561	-0.41;-0.41;-0.41	4.91	-1.8	0.07907	.	0.245514	0.46758	D	0.000263	T	0.63486	0.2515	M	0.77712	2.385	0.42656	D	0.993469	B;B	0.30664	0.289;0.171	B;B	0.40477	0.33;0.22	T	0.55023	-0.8205	10	0.52906	T	0.07	.	2.396	0.04390	0.1025:0.3183:0.1675:0.4117	.	165;165	E7EMT5;P04798	.;CP1A1_HUMAN	N	165	ENSP00000369050:K165N;ENSP00000378488:K165N;ENSP00000378489:K165N	ENSP00000268062:K165N	K	-	3	2	CYP1A1	72801997	0.191000	0.23288	0.983000	0.44433	0.772000	0.43724	-0.386000	0.07370	-0.412000	0.07519	-0.379000	0.06801	AAG		0.572	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		124	387	1	0	4.9668e-63	1	5.28079e-63	124	387					A	75014944	C	A	75014944	3	1	37	1	0	0	0	0	1	0	0	0	4160	680	24	3	1067	3	CYP1A1	15	75014944	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	646648	75014944	27516448	106	4450											
FAH	2184	broad.mit.edu	37	chr15	80464493	80464493	+	Frame_Shift_Del	DEL	T	T	-													aactctcccccatgtaaggcTttttttgtaggccctggaaa					rs76497285		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:80464493delT	ENST00000407106.1	+	9	764	c.609delT	c.(607-609)gctfs	p.A203fs	FAH_ENST00000261755.5_Frame_Shift_Del_p.A203fs|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Frame_Shift_Del_p.A133fs|FAH_ENST00000561421.1_Frame_Shift_Del_p.A203fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	203					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATGTAAGGCTTTTTTTGTAG	0.498									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(397-399)gcfs		fumarylacetoacetate hydrolase (fumarylacetoacetase)							91	89	90					15																	80464493		2203	4300	6503	SO:0001589	frameshift_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80464493delT	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.609delT	15.37:g.80464493delT	ENSP00000385080:p.Ala203fs					FAH_ENST00000561421.1_Frame_Shift_Del_p.A203fs|FAH_ENST00000407106.1_Frame_Shift_Del_p.A203fs|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Frame_Shift_Del_p.A203fs	p.A133fs			P16930	FAAA_HUMAN			7	2637	+			203					B2R9X1|D3DW95|Q53XA7	Frame_Shift_Del	DEL	ENST00000407106.1	37	c.399delT	CCDS10314.1																																																																																				0.498	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			8	883						8	883	---	---	---	---	-	80464493	T	-	80464493	7	5	37	1	0	1	0	1	0	0	0	0	5392	1596	56	0	639	0	FAH	15	80464493	Frame_Shift_Del	DEL	T	TCGA-3A-A9IZ-01A-12D-A40W-08	5449549	80464493	22066899	107	4451											
CHD2	1106	broad.mit.edu	37	chr15	93482887	93482889	+	In_Frame_Del	DEL	GAT	GAT	-													agcaagattcttctgatgagGatgatgatgatgacgaagct							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:93482887_93482889delGAT	ENST00000394196.4	+	7	1699_1701	c.631_633delGAT	c.(631-633)gatdel	p.D215del	CHD2_ENST00000536619.1_In_Frame_Del_p.D228del|CHD2_ENST00000420239.2_In_Frame_Del_p.D215del|CHD2_ENST00000557381.1_In_Frame_Del_p.D215del	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	215					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTCTGATGAGGATGATGATGATG	0.438																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(631-633)del		chromodomain helicase DNA binding protein 2																																				SO:0001651	inframe_deletion	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93482887_93482889delGAT	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.631_633delGAT	15.37:g.93482896_93482898delGAT	ENSP00000377747:p.Asp215del					CHD2_ENST00000536619.1_In_Frame_Del_p.D228del|CHD2_ENST00000557381.1_In_Frame_Del_p.D215del|CHD2_ENST00000420239.2_In_Frame_Del_p.D215del	p.D215del	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		7	1699_1701	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		215					C6G482|Q96IP5	In_Frame_Del	DEL	ENST00000394196.4	37	c.631_633delGAT	CCDS10374.2																																																																																				0.438	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	811						7	811	---	---	---	---	-	93482889	GAT	-	93482887	7	5	37	1	0	1	0	1	0	0	0	0	3334	1174	41	0	653	0	CHD2	15	93482887	In_Frame_Del	DEL	GAT	TCGA-3A-A9IZ-01A-12D-A40W-08	13018394	93482887	9048505	108	4452											
HAGH	3029	broad.mit.edu	37	chr16	1869148	1869148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggctccgagcctccgGgcttgctcacgaagtaacaa	13	13	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:1869148G>A	ENST00000397356.3	-	5	915	c.509C>T	c.(508-510)cCc>cTc	p.P170L	HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	170					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGAGCCTCCGGGCTTGCTCAC	0.627																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000397356.3																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(508-510)cCc>cTc		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						44	45	44					16																	1869148		2198	4300	6498	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1869148G>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.509C>T	16.37:g.1869148G>A	ENSP00000380514:p.Pro170Leu					HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	p.P170L	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN			5	915	-		Hepatocellular(780;0.00335)	170					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.509C>T	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010153	0.35415	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95622	-3.76;-3.76	4.92	4.92	0.64577	Beta-lactamase-like (2);	0.232302	0.44285	D	0.000476	D	0.90587	0.7049	N	0.25201	0.72	0.80722	D	1	P;B;P	0.39717	0.536;0.099;0.684	B;B;B	0.34824	0.067;0.023;0.19	D	0.90163	0.4229	10	0.30078	T	0.28	-11.5709	17.4781	0.87666	0.0:0.0:1.0:0.0	.	167;122;170	B4DT01;Q16775-2;Q16775	.;.;GLO2_HUMAN	L	170;122	ENSP00000380514:P170L;ENSP00000380511:P122L	ENSP00000380511:P122L	P	-	2	0	HAGH	1809149	1.000000	0.71417	0.945000	0.38365	0.042000	0.13812	6.522000	0.73783	2.435000	0.82474	0.555000	0.69702	CCC		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		36	80	0	0	0	1	0	36	80					A	1869148	G	A	1869148	3	1	37	1	0	0	0	0	1	0	0	0	6975	1232	43	2	437	2	HAGH	16	1869148	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		1869148	88485605	109	4453											
SRRM2	23524	broad.mit.edu	37	chr16	2819210	2819211	+	Frame_Shift_Ins	INS	-	-	T													tcctcgtcgtcttcctccccINSttcccctgctaagcctggcc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:2819210_2819211insT	ENST00000301740.8	+	12	8495_8496	c.7946_7947insT	c.(7945-7950)ccttccfs	p.S2650fs	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2650	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcttcctccccttccCCTGCTA	0.584																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7945-7947)ctcfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819210_2819211insT	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7948dupT	16.37:g.2819212_2819212dupT	ENSP00000301740:p.Ser2650fs					SRRM2_ENST00000574593.1_3'UTR	p.L2649fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8495_8496	+			2649			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.7946_7947insT	CCDS32373.1																																																																																				0.584	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	723						7	723	---	---	---	---	T	2819211	-	T	2819210	7	5	37	1	0	1	1	0	0	0	0	0	15221	681	24	0	7988	0	SRRM2	16	2819210	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	950062	2819210	87535543	110	4454											
PRM1	5619	broad.mit.edu	37	chr16	11374992	11374992	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggcccacttactcatggctCtcctccgtgtctggcagctc	10	16	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11374992C>G	ENST00000312511.3	-	1	215	c.104G>C	c.(103-105)aGa>aCa	p.R35T	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	35					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)		large_intestine(2)|skin(2)	4						ACTCATGGCTCTCCTCCGTGT	0.617																																						ENST00000312511.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|skin(2)	4						c.(103-105)aGa>aCa		protamine 1							117	109	112					16																	11374992		2197	4300	6497	SO:0001583	missense	5619				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11374992C>G		CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 1"	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.104G>C	16.37:g.11374992C>G	ENSP00000310515:p.Arg35Thr					RMI2_ENST00000572173.1_Intron	p.R35T	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN			1	215	-			35						Missense_Mutation	SNP	ENST00000312511.3	37	c.104G>C	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259367	0.10239	.	.	ENSG00000175646	ENST00000312511	.	.	.	3.2	2.23	0.28157	.	0.610754	0.13387	N	0.391708	T	0.30198	0.0757	.	.	.	0.09310	N	1	P	0.44139	0.827	B	0.42087	0.375	T	0.14420	-1.0473	8	0.87932	D	0	1.6873	6.2261	0.20708	0.0:0.8559:0.0:0.1441	.	35	P04553	HSP1_HUMAN	T	35	.	ENSP00000310515:R35T	R	-	2	0	PRM1	11282493	0.006000	0.16342	0.004000	0.12327	0.055000	0.15305	0.194000	0.17135	0.560000	0.29169	0.430000	0.28490	AGA		0.617	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1			7	480	0	0	0	1	0	7	480					G	11374992	C	G	11374992	3	3	37	1	0	0	0	0	1	0	0	0	12579	913	32	5	59	5	PRM1	16	11374992	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	8555782	11374992	78979761	111	4455											
C16orf45	89927	broad.mit.edu	37	chr16	15677014	15677014	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacccatctactttcacaggGagcaagaagaagacaaggaa	9	9	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:15677014G>C	ENST00000300006.4	+	5	780	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000561692.1_Splice_Site_p.E93Q	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	141										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CTTTCACAGGGAGCAAGAAGA	0.378																																						ENST00000300006.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.e5-1		chromosome 16 open reading frame 45							122	120	121					16																	15677014		2197	4300	6497	SO:0001630	splice_region_variant	89927							g.chr16:15677014G>C	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.420-1G>C	16.37:g.15677014G>C						C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Splice_Site_p.E93_splice|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000452191.2_Splice_Site_p.E124_splice	p.E141_splice	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			5	780	+			141					O00223|O75769|Q8IZ36|Q96H25	Splice_Site	SNP	ENST00000300006.4	37	c.419_splice	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921388	0.92249	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.59224	0.28;0.28	5.27	5.27	0.74061	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.84082	2.675	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.83275	0.995;0.996	T	0.82452	-0.0450	10	0.87932	D	0	-19.9858	18.4883	0.90838	0.0:0.0:1.0:0.0	.	85;141	B4DE25;Q96MC5	.;CP045_HUMAN	Q	141;124	ENSP00000300006:E141Q;ENSP00000408976:E124Q	ENSP00000300006:E141Q	E	+	1	0	C16orf45	15584515	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.318000	0.89990	2.434000	0.82447	0.650000	0.86243	GAG		0.378	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201	Missense_Mutation	50	503	0	0	0	1	0	50	503					C	15677014	G	C	15677014	5	2	37	1	0	0	0	0	0	0	1	0	1819	1188	41	5	498	5	C16orf45	16	15677014	Splice_Site	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	4302022	15677014	74677739	112	4456											
ABCC6	368	broad.mit.edu	37	chr16	16284067	16284068	+	Frame_Shift_Ins	INS	-	-	GG													cagcgacacagagaagaggaINSggccggaggtccgcaaggcg							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:16284067_16284068insGG	ENST00000205557.7	-	12	1617_1618	c.1588_1589insCC	c.(1588-1590)ctcfs	p.L530fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	530	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGAGAAGAGGAGGCCGGAGGTC	0.594																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1588-1590)cctfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 6																																				SO:0001589	frameshift_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284067_16284068insGG	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1587_1588dupCC	16.37:g.16284068_16284069dupGG	ENSP00000205557:p.Leu530fs					ABCC6_ENST00000574094.1_5'UTR	p.P530fs	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1617_1618	-			530			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Frame_Shift_Ins	INS	ENST00000205557.7	37	c.1588_1589insCC	CCDS10568.1																																																																																				0.594	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			87	358						87	358	---	---	---	---	GG	16284068	-	GG	16284067	7	5	37	1	0	1	1	0	0	0	0	0	57	304	11	0	3002	0	ABCC6	16	16284067	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	607053	16284067	74070686	113	4457											
CDR2	1039	broad.mit.edu	37	chr16	22385600	22385600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggctcgtcctccttcatctCaaactcctctaccaggtttt	5	16	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:22385600C>G	ENST00000268383.2	-	1	338	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CDR2_ENST00000569045.1_Intron|RP11-21M24.2_ENST00000567158.1_RNA|RP11-21M24.2_ENST00000568827.1_RNA	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	11						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(31-33)Gag>Cag		cerebellar degeneration-related protein 2, 62kDa							53	55	55					16																	22385600		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22385600C>G	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.31G>C	16.37:g.22385600C>G	ENSP00000268383:p.Glu11Gln					CDR2_ENST00000569045.1_Intron	p.E11Q	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	1	338	-			11					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.31G>C	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323911	0.60634	.	.	ENSG00000140743	ENST00000268383	T	0.30981	1.51	4.23	4.23	0.50019	.	0.055975	0.64402	U	0.000001	T	0.45538	0.1347	L	0.52364	1.645	0.50171	D	0.999852	D	0.71674	0.998	D	0.66351	0.943	T	0.28396	-1.0045	10	0.14656	T	0.56	-17.8946	16.6203	0.84928	0.0:1.0:0.0:0.0	.	11	Q01850	CDR2_HUMAN	Q	11	ENSP00000268383:E11Q	ENSP00000268383:E11Q	E	-	1	0	CDR2	22293101	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.673000	0.61604	1.899000	0.54978	0.462000	0.41574	GAG		0.736	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			105	321	0	0	0	1	0	105	321					G	22385600	C	G	22385600	3	3	37	1	0	0	0	0	1	0	0	0	3181	835	29	5	1353	5	CDR2	16	22385600	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	6101533	22385600	67969153	114	4458											
PKD1L2	114780	broad.mit.edu	37	chr16	81232548	81232548	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatctccaggcggtgcctcCcagggcccatcagtttctgg	13	14	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:81232548C>G	ENST00000525539.1	-	0	1261				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGTGCCTCCCAGGGCCCAT	0.567																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1261-1263)gGg>gCg		polycystic kidney disease 1-like 2							159	161	161					16																	81232548		1975	4150	6125			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232548C>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232548C>G						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.G421A			Q7Z442	PK1L2_HUMAN			7	1261	-			421					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1262G>C		.	.	.	.	.	.	.	.	.	.	C	13.41	2.229880	0.39399	.	.	ENSG00000166473	ENST00000337114	T	0.11495	2.77	5.25	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	.	.	.	0.29345	N	0.865728	P;D	0.89917	0.906;1.0	P;D	0.75020	0.81;0.985	T	0.25328	-1.0135	9	0.87932	D	0	-25.724	15.4173	0.74980	0.1403:0.8597:0.0:0.0	.	421;421	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	421	ENSP00000337397:G421A	ENSP00000337397:G421A	G	-	2	0	PKD1L2	79790049	0.983000	0.35010	0.253000	0.24343	0.069000	0.16628	3.157000	0.50716	1.237000	0.43756	-0.235000	0.12190	GGG		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			121	420	0	0	0	1	0	121	420					G	81232548	C	G	81232548	1	3	37	0	1	0	0	0	0	0	0	0	12007	623	22	5		5	PKD1L2	16	81232548	RNA	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	58846948	81232548	9122205	115	4459											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(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)	GCCCATGCAGGAACTGTTACA	0.572		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)	ENST00000420246.2		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"		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(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	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>T	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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	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	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		74	116	1	0	5.6417e-52	1	5.96409e-52	74	116					T	7577559	G	T	7577559	3	4	37	1	0	0	0	0	1	0	0	0	16434	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		7577559	73617651	116	4460											
PFAS	5198	broad.mit.edu	37	chr17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaggagccaggcctcGtgctggaggtgcaggagcca	17	11	0	1	rs561030492		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.001					ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2857-2859)Gtg>Atg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						54	51	52					17																	8170106		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170106G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2857G>A	17.37:g.8170106G>A	ENSP00000313490:p.Val953Met					PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	p.V953M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			23	2990	+			953					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2857G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799131	0.90538	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.39997	1.05;1.05	5.24	5.24	0.73138	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	H	0.94542	3.55	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	10	0.87932	D	0	-17.4026	16.6687	0.85260	0.0:0.0:1.0:0.0	.	953;953	A8K8N7;O15067	.;PUR4_HUMAN	M	529;953;362	ENSP00000441706:V529M;ENSP00000313490:V953M	ENSP00000313490:V953M	V	+	1	0	PFAS	8110831	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.109000	0.71528	2.605000	0.88082	0.561000	0.74099	GTG		0.662	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			69	109	0	0	0	1	0	69	109					A	8170106	G	A	8170106	3	1	37	1	0	0	0	0	1	0	0	0	11796	1145	40	1	2943	1	PFAS	17	8170106	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	592547	8170106	73025104	117	4461											
MYH10	4628	broad.mit.edu	37	chr17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G													gtcggtcgtctccccgtcgaINSgttttcttttggccttttcc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8409750_8409751insG	ENST00000269243.4	-	25	3316_3317	c.3178_3179insC	c.(3178-3180)ctcfs	p.L1060fs	MYH10_ENST00000379980.4_Frame_Shift_Ins_p.L1076fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.L1081fs|MYH10_ENST00000360416.3_Frame_Shift_Ins_p.L1091fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3271-3273)cgafs		myosin, heavy chain 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409750_8409751insG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3179dupC	17.37:g.8409751_8409751dupG	ENSP00000269243:p.Leu1060fs					MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs	p.R1091fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3409_3410	-			1060					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Ins	INS	ENST00000269243.4	37	c.3271_3272insC	CCDS11144.1																																																																																				0.515	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	395						7	395	---	---	---	---	G	8409751	-	G	8409750	7	5	37	1	0	1	1	0	0	0	0	0	10071	304	11	0	2819	0	MYH10	17	8409750	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	239644	8409750	72785460	118	4462											
STARD3	10948	broad.mit.edu	37	chr17	37817295	37817295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacttgtcatcagggatcGccacctcacacagtgccaag	9	13	3	0	rs376946622		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:37817295G>A	ENST00000336308.5	+	13	1314	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	STARD3_ENST00000580611.1_Missense_Mutation_p.A340T|STARD3_ENST00000544210.2_Missense_Mutation_p.A366T|STARD3_ENST00000394250.4_Missense_Mutation_p.A348T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	366	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCAGGGATCGCCACCTCACA	0.617																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1096-1098)Gcc>Acc		StAR-related lipid transfer (START) domain containing 3		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	84	65	72		1096,1042,1096	4.1	0.9	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	STARD3	NM_001165937.1,NM_001165938.1,NM_006804.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	366/446,348/428,366/446	37817295	1,13005	2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37817295G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1096G>A	17.37:g.37817295G>A	ENSP00000337446:p.Ala366Thr					STARD3_ENST00000544210.2_Missense_Mutation_p.A366T|STARD3_ENST00000394250.4_Missense_Mutation_p.A348T|STARD3_ENST00000580611.1_Missense_Mutation_p.A340T	p.A366T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1314	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		366			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1096G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977639	0.34848	0.0	1.16E-4	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79749	-1.3;-1.3;-1.3	5.02	4.05	0.47172	Lipid-binding START (3);START-like domain (1);	0.224065	0.45126	N	0.000388	T	0.73048	0.3537	L	0.61387	1.9	0.53005	D	0.999962	B;B;B;B;B	0.32918	0.115;0.39;0.007;0.022;0.022	B;B;B;B;B	0.21546	0.035;0.025;0.021;0.008;0.008	T	0.70641	-0.4816	10	0.41790	T	0.15	.	9.1463	0.36935	0.0795:0.0:0.766:0.1545	.	366;131;366;348;366	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	T	366;366;348	ENSP00000337446:A366T;ENSP00000439869:A366T;ENSP00000377794:A348T	ENSP00000337446:A366T	A	+	1	0	STARD3	35070821	0.999000	0.42202	0.908000	0.35775	0.110000	0.19582	3.058000	0.49939	1.123000	0.41961	0.561000	0.74099	GCC		0.617	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			6	306	0	0	0	1	0	6	306					A	37817295	G	A	37817295	3	1	37	1	0	0	0	0	1	0	0	0	15309	1087	38	1	1155	1	STARD3	17	37817295	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	29407545	37817295	43377915	119	4463											
SLC4A1	6521	broad.mit.edu	37	chr17	42336630	42336630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaagcgtataggcacCggcagctccaccgcctccag	12	14	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:42336630C>T	ENST00000262418.6	-	9	932	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	259	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652																																						ENST00000262418.6																			1	Substitution - coding silent(1)	p.P259P(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(775-777)ccG>ccA		solute carrier family 4 (anion exchanger), member 1							32	34	33					17																	42336630		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42336630C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.777G>A	17.37:g.42336630C>T						AC003043.1_ENST00000597382.1_Intron	p.P259P	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	9	932	-		Breast(137;0.014)|Prostate(33;0.0181)	259					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.777G>A	CCDS11481.1																																																																																				0.652	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		68	156	0	0	0	1	0	68	156					T	42336630	C	T	42336630	2	4	37	1	0	0	0	0	0	0	0	1	14700	639	23	1		1	SLC4A1	17	42336630	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	4519335	42336630	38858580	120	4464											
SDK2	54549	broad.mit.edu	37	chr17	71381998	71381998	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccatacctgccatcggatTagcacggaggtggtggtgtg	16	9	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:71381998T>A	ENST00000392650.3	-	32	4557	c.4557A>T	c.(4555-4557)ctA>ctT	p.L1519L	SDK2_ENST00000388726.3_Silent_p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1519	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCATCGGATTAGCACGGAGG	0.647																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4555-4557)ctA>ctT		sidekick cell adhesion molecule 2							73	62	66					17																	71381998		2203	4299	6502	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71381998T>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4557A>T	17.37:g.71381998T>A						SDK2_ENST00000388726.3_Silent_p.L1519L	p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			32	4557	-			1519			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4557A>T	CCDS45769.1																																																																																				0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		23	59	0	0	0	1	0	23	59					A	71381998	T	A	71381998	2	1	37	1	0	0	0	0	0	0	0	1	14019	1741	61	5		5	SDK2	17	71381998	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	29045368	71381998	9813212	121	4465											
DSG2	1829	broad.mit.edu	37	chr18	29116237	29116237	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgacaactgtcccacacTgatagagcctgtgcagacaa	8	13	0	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr18:29116237T>G	ENST00000261590.8	+	11	1705	c.1496T>G	c.(1495-1497)cTg>cGg	p.L499R		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	499	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTCCCACACTGATAGAGCCT	0.428																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1495-1497)cTg>cGg		desmoglein 2							96	88	91					18																	29116237		1956	4164	6120	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29116237T>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1496T>G	18.37:g.29116237T>G	ENSP00000261590:p.Leu499Arg						p.L499R	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		11	1705	+			499			Cadherin 4.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1496T>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764658	0.49574	.	.	ENSG00000046604	ENST00000261590	T	0.63913	-0.07	5.89	5.89	0.94794	Cadherin (2);Cadherin-like (1);	0.143841	0.32218	N	0.006411	D	0.82513	0.5053	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85990	0.1488	10	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	499	Q14126	DSG2_HUMAN	R	499	ENSP00000261590:L499R	ENSP00000261590:L499R	L	+	2	0	DSG2	27370235	1.000000	0.71417	0.757000	0.31301	0.015000	0.08874	6.161000	0.71868	2.246000	0.74042	0.533000	0.62120	CTG		0.428	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		12	358	0	0	0	1	0	12	358					G	29116237	T	G	29116237	3	3	37	1	0	0	0	0	1	0	0	0	4793	1580	55	4	1538	4	DSG2	18	29116237	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08		29116237	48961011	122	4466											
VAV1	7409	broad.mit.edu	37	chr19	6829851	6829851	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagcgcaggggagactcCtatgacctcaaggactttgt	12	9	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:6829851C>G	ENST00000602142.1	+	14	1402	c.1320C>G	c.(1318-1320)tcC>tcG	p.S440S	VAV1_ENST00000599806.1_Silent_p.S385S|VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000304076.2_Silent_p.S440S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	440	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGAGACTCCTATGACCTCA	0.527																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1318-1320)tcC>tcG		vav 1 guanine nucleotide exchange factor							156	127	137					19																	6829851		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829851C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1320C>G	19.37:g.6829851C>G						VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000602142.1_Silent_p.S440S|VAV1_ENST00000599806.1_Silent_p.S385S|VAV1_ENST00000539284.1_Silent_p.S343S	p.S440S	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			14	1414	+			440			PH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1320C>G	CCDS12174.1																																																																																				0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			21	267	0	0	0	1	0	21	267					G	6829851	C	G	6829851	2	3	37	1	0	0	0	0	0	0	0	1	17185	668	24	5		5	VAV1	19	6829851	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		6829851	52299132	123	4467											
FCGBP	8857	broad.mit.edu	37	chr19	40424379	40424379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatagttgccacacagcccGcacacctggtcttggaagcg	10	13	1	0	rs201855763		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:40424379G>A	ENST00000221347.6	-	4	1831	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	608	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGCCCGCACACCTGGT	0.617																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1822-1824)tgC>tgT		Fc fragment of IgG binding protein		G		0,4406		0,0,2203	81	82	82		1824	-0.7	1	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		608/5406	40424379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40424379G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1824C>T	19.37:g.40424379G>A							p.C608C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	1831	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		608			VWFD 1.		O95784	Silent	SNP	ENST00000221347.6	37	c.1824C>T	CCDS12546.1																																																																																				0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	375	0	0	0	1	0	6	375					A	40424379	G	A	40424379	2	1	37	1	0	0	0	0	0	0	0	1	5803	1079	38	1		1	FCGBP	19	40424379	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	33594528	40424379	18704604	124	4468											
IZUMO1	284359	broad.mit.edu	37	chr19	49245529	49245529	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagtttaactcacagtccagGatcatgtcttccatttgagg	8	10	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:49245529G>C	ENST00000332955.2	-	7	1084	c.537C>G	c.(535-537)atC>atG	p.I179M	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	179	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CACAGTCCAGGATCATGTCTT	0.478																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(535-537)atC>atG		izumo sperm-egg fusion 1							178	162	167					19																	49245529		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245529G>C	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.537C>G	19.37:g.49245529G>C	ENSP00000327786:p.Ile179Met						p.I179M	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	7	1084	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	179			Ig-like C2-type.		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.537C>G	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401774	0.42613	.	.	ENSG00000182264	ENST00000332955	D	0.84070	-1.8	4.67	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.764345	0.11908	N	0.517951	T	0.77718	0.4172	N	0.24115	0.695	0.23519	N	0.997503	P	0.40794	0.729	P	0.48400	0.576	T	0.66586	-0.5886	10	0.54805	T	0.06	-19.8514	7.5894	0.28012	0.1976:0.0:0.8024:0.0	.	179	Q8IYV9	IZUM1_HUMAN	M	179	ENSP00000327786:I179M	ENSP00000327786:I179M	I	-	3	3	IZUMO1	53937341	0.907000	0.30839	0.774000	0.31636	0.682000	0.39822	0.508000	0.22692	0.697000	0.31718	0.561000	0.74099	ATC		0.478	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		5	490	0	0	0	1	0	5	490					C	49245529	G	C	49245529	3	2	37	1	0	0	0	0	1	0	0	0	7963	1164	41	5	531	5	IZUMO1	19	49245529	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	8821150	49245529	9883454	125	4469											
SHANK1	50944	broad.mit.edu	37	chr19	51200361	51200361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctctcacctccctggGccaatcccatccattaagct	5	19	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:51200361G>A	ENST00000293441.1	-	14	1974	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	SHANK1_ENST00000391814.1_Silent_p.G652G|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	652					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTCCCTGGGCCAATCCCAT	0.647																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1954-1956)ggC>ggT		SH3 and multiple ankyrin repeat domains 1							110	97	101					19																	51200361		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200361G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1956C>T	19.37:g.51200361G>A						SHANK1_ENST00000391814.1_Silent_p.G652G|SHANK1_ENST00000359082.3_Intron	p.G652G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	14	1974	-		all_neural(266;0.057)	652					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.1956C>T	CCDS12799.1																																																																																				0.647	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	360	0	0	0	1	0	6	360					A	51200361	G	A	51200361	2	1	37	1	0	0	0	0	0	0	0	1	14314	1190	42	2		2	SHANK1	19	51200361	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	1954832	51200361	7928622	126	4470											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		7	438	0	0	0	1	0	7	438					A	34241168	G	A	34241168	3	1	37	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		34241168	28784352	127	4471											
POTEH	23784	broad.mit.edu	37	chr22	16287625	16287625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcttcatagcagaatcGtcgtggtctccagaagtgcc	11	10	3	2	rs532473477	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr22:16287625G>A	ENST00000343518.6	-	1	312	c.261C>T	c.(259-261)gaC>gaT	p.D87D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	87										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGCAGAATCGTCGTGGTCTC	0.602																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(259-261)gaC>gaT		POTE ankyrin domain family, member H							57	67	64					22																	16287625		1834	3467	5301	SO:0001819	synonymous_variant	23784							g.chr22:16287625G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.261C>T	22.37:g.16287625G>A							p.D87D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	312	-			87					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.261C>T	CCDS46658.1																																																																																				0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		202	723	0	0	0	1	0	202	723					A	16287625	G	A	16287625	2	1	37	1	0	0	0	0	0	0	0	1	12309	1136	40	1		1	POTEH	22	16287625	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		16287625	35016941	128	4472											
SH3BP1	23616	broad.mit.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-													caacaaggtggagacgctgaAggaggaggaggaggagctga							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr22:38039752_38039754delAGG	ENST00000357436.4	+	7	888_890	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000599616.1_In_Frame_Del_p.E133del|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(382-387)aag>a		SH3-domain binding protein 1				1,4261		0,1,2130						5.1	1			112	1,8253		0,1,4126	no	coding	SH3BP1	NM_018957.3		0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12514				SO:0001651	inframe_deletion	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039752_38039754delAGG		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.575_577delAGG	22.37:g.38039761_38039763delAGG	ENSP00000350018:p.Glu197del		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|Z83844.1_ENST00000456099.1_RNA	p.KE128del			Q9Y3L3	3BP1_HUMAN			5	383_385	+	Melanoma(58;0.0574)		192			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	In_Frame_Del	DEL	ENST00000357436.4	37	c.383_385delAGG	CCDS13952.2																																																																																				0.606	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		8	384						8	384	---	---	---	---	-	38039754	AGG	-	38039752	7	5	37	1	0	1	0	1	0	0	0	0	14294	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-3A-A9IZ-01A-12D-A40W-08	21752127	38039752	13264814	129	4473											
PNMA5	114824	broad.mit.edu	37	chrX	152159333	152159333	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgtgcacggctttctgCagcaggggctctaagcgcag	13	12	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:152159333C>G	ENST00000439251.1	-	2	1248	c.810G>C	c.(808-810)ctG>ctC	p.L270L	PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L|PNMA5_ENST00000535214.1_Silent_p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	270					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCTTTCTGCAGCAGGGGCT	0.542																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(808-810)ctG>ctC		paraneoplastic Ma antigen family member 5							57	58	58					X																	152159333		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159333C>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.810G>C	X.37:g.152159333C>G						PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L|PNMA5_ENST00000535214.1_Silent_p.L270L	p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1248	-	Acute lymphoblastic leukemia(192;6.56e-05)		270					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.810G>C	CCDS14718.1																																																																																				0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		47	218	0	0	0	1	0	47	218					G	152159333	C	G	152159333	2	3	37	1	0	0	0	0	0	0	0	1	12198	697	25	5		5	PNMA5	23	152159333	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		152159333	3111227	130	4474											
PLOD1	5351	broad.mit.edu	37	chr1	12030859	12030859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggagaagctctaccccGgctactacaccagggtgggc	13	13	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12030859G>A	ENST00000196061.4	+	17	1915	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	630					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)			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)	GCTCTACCCCGGCTACTACAC	0.607																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1888-1890)Ggc>Agc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						55	49	51					1																	12030859		2202	4300	6502	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.chr1:12030859G>A	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.1888G>A	1.37:g.12030859G>A	ENSP00000196061:p.Gly630Ser					PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	p.G630S	NM_000302.3	NP_000293.2	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)	17	1915	+	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)	630					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1888G>A	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864455	0.91511	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.65916	-0.18;-0.17	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.89715	3.055	0.80722	D	1	B;B	0.31435	0.323;0.323	B;B	0.23275	0.03;0.045	T	0.73864	-0.3848	10	0.87932	D	0	.	19.3514	0.94389	0.0:0.0:1.0:0.0	.	677;630	B4DR87;Q02809	.;PLOD1_HUMAN	S	294;677;630	ENSP00000365548:G677S;ENSP00000196061:G630S	ENSP00000196061:G630S	G	+	1	0	PLOD1	11953446	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	GGC		0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		4	159	0	0	0	1	0	4	159					A	12030859	G	A	12030859	3	1	38	1	0	0	0	0	1	0	0	0	12143	1116	39	1	1954	1	PLOD1	1	12030859	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		12030859	237219762	1	4475											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908073	12908073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgacaacaagagtgtTgagattcccaatgaacacac	7	9	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12908073T>C	ENST00000317869.6	-	2	295	c.70A>G	c.(70-72)Aac>Gac	p.N24D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACAAGAGTGTTGAGATTCCCA	0.453																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(70-72)Aac>Gac		heterogeneous nuclear ribonucleoprotein C-like 1							191	177	182					1																	12908073		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908073T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.70A>G	1.37:g.12908073T>C	ENSP00000365370:p.Asn24Asp						p.N24D	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	295	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.70A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650509	0.67472	.	.	ENSG00000179172	ENST00000317869	T	0.40225	1.04	1.09	-0.423	0.12325	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.179946	0.45361	U	0.000369	T	0.24005	0.0581	N	0.17474	0.49	0.42596	D	0.993268	B	0.31931	0.347	B	0.37989	0.262	T	0.03068	-1.1076	10	0.39692	T	0.17	.	4.9313	0.13919	0.0:0.0:0.3116:0.6884	.	24	O60812	HNRCL_HUMAN	D	24	ENSP00000365370:N24D	ENSP00000365370:N24D	N	-	1	0	HNRNPCL1	12830660	1.000000	0.71417	0.489000	0.27452	0.699000	0.40488	5.399000	0.66314	-0.107000	0.12088	0.341000	0.21757	AAC		0.453	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		59	940	0	0	0	1	0	59	940					C	12908073	T	C	12908073	3	2	38	1	0	0	0	0	1	0	0	0	7293	1812	63	4	813	4	HNRNPCL1	1	12908073	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	877214	12908073	236342548	2	4476											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	306	0	0	0	1	0	5	306					G	21806573	A	G	21806573	3	3	38	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	8898500	21806573	227444048	3	4477											
CSMD2	114784	broad.mit.edu	37	chr1	34092119	34092119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagcctctggctggtgCgaggcctttggcgctgaact	16	10	1	1	rs529128430		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:34092119C>T	ENST00000373380.1	-	12	2102	c.1882G>A	c.(1882-1884)Gca>Aca	p.A628T	CSMD2_ENST00000373381.4_Missense_Mutation_p.A1755T|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1715	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				CTGGCTGGTGCGAGGCCTTTG	0.542																																						ENST00000373381.4																			0				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						c.(5263-5265)Gca>Aca		CUB and Sushi multiple domains 2							58	52	54					1																	34092119		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34092119C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1882G>A	1.37:g.34092119C>T	ENSP00000362478:p.Ala628Thr					CSMD2_ENST00000373380.1_Missense_Mutation_p.A628T|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	p.A1755T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			33	5439	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1715			Sushi 10.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5263G>A		.	.	.	.	.	.	.	.	.	.	c	9.717	1.158608	0.21454	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.59083	0.29;0.29	5.87	0.757	0.18427	CUB (5);	0.497844	0.22002	N	0.065989	T	0.26340	0.0643	N	0.03903	-0.33	0.20403	N	0.999907	B;B;B	0.15473	0.002;0.013;0.002	B;B;B	0.15870	0.002;0.008;0.014	T	0.13737	-1.0498	10	0.22706	T	0.39	.	5.2569	0.15552	0.3639:0.4384:0.0:0.1976	.	628;1715;1755	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	1755;628	ENSP00000362479:A1755T;ENSP00000362478:A628T	ENSP00000241312:A1715T	A	-	1	0	CSMD2	33864706	0.019000	0.18553	0.012000	0.15200	0.327000	0.28475	0.209000	0.17435	0.103000	0.17682	-0.713000	0.03633	GCA		0.542	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		10	51	0	0	0	1	0	10	51					T	34092119	C	T	34092119	3	4	38	1	0	0	0	0	1	0	0	0	3956	768	27	1	5468	1	CSMD2	1	34092119	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	12285546	34092119	215158502	4	4478											
HIVEP3	59269	broad.mit.edu	37	chr1	41976495	41976495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaggcctgcccgggcctCcgccggtcctctccctctcc	11	21	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:41976495C>T	ENST00000372583.1	-	9	7733	c.6848G>A	c.(6847-6849)gGa>gAa	p.G2283E	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2282E|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2283					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGGGCCTCCGCCGGTCCT	0.682																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6844-6846)gGa>gAa		human immunodeficiency virus type I enhancer binding protein 3							19	23	22					1																	41976495		2201	4298	6499	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976495C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6848G>A	1.37:g.41976495C>T	ENSP00000361664:p.Gly2283Glu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2283E|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E	p.G2282E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7859	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2283					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6845G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680791	0.03353	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.04917	3.54;3.53;3.53;3.54	5.27	3.27	0.37495	.	0.615288	0.14475	N	0.317317	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46679	-0.9174	10	0.09843	T	0.71	-1.0496	4.9301	0.13912	0.0:0.6819:0.0:0.3181	.	2282;2283	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	E	2282;2283;2283;2282	ENSP00000361665:G2282E;ENSP00000361664:G2283E;ENSP00000247584:G2283E;ENSP00000410828:G2282E	ENSP00000247584:G2283E	G	-	2	0	HIVEP3	41749082	0.008000	0.16893	0.462000	0.27118	0.101000	0.19017	0.771000	0.26633	1.462000	0.47948	0.561000	0.74099	GGA		0.682	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		21	88	0	0	0	1	0	21	88					T	41976495	C	T	41976495	3	4	38	1	0	0	0	0	1	0	0	0	7218	855	30	2	376	2	HIVEP3	1	41976495	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	7884376	41976495	207274126	5	4479											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		8	1527						8	1527	---	---	---	---	-	44489938	T	-	44489938	7	5	38	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-3A-A9J0-01A-11D-A40W-08	2513443	44489938	204760683	6	4480											
SSX2IP	117178	broad.mit.edu	37	chr1	85124124	85124124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctctgcttagttcccCggcatcttcttcaacatcgg	6	15	5	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:85124124C>T	ENST00000342203.3	-	9	1218	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.G292R|SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	319					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGTTCCCCGGCATCTTCT	0.438																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(874-876)Ggg>Agg		synovial sarcoma, X breakpoint 2 interacting protein							105	90	95					1																	85124124		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85124124C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.955G>A	1.37:g.85124124C>T	ENSP00000340279:p.Gly319Arg					SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G319R|SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R	p.G292R	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	8	1226	-			319					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.874G>A	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325317	0.81580	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.49720	0.77;0.77	5.76	4.77	0.60923	.	0.455024	0.25037	N	0.033632	T	0.45796	0.1360	L	0.47716	1.5	0.35549	D	0.803693	D;D;D	0.63046	0.99;0.992;0.985	P;P;P	0.53760	0.615;0.734;0.648	T	0.42766	-0.9432	10	0.46703	T	0.11	.	17.5251	0.87798	0.1322:0.8678:0.0:0.0	.	315;319;292	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	R	319;292;315;319	ENSP00000340279:G319R;ENSP00000412781:G292R	ENSP00000340279:G319R	G	-	1	0	SSX2IP	84896712	0.967000	0.33354	0.993000	0.49108	0.938000	0.57974	4.489000	0.60309	2.732000	0.93576	0.655000	0.94253	GGG		0.438	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		13	166	0	0	0	1	0	13	166					T	85124124	C	T	85124124	3	4	38	1	0	0	0	0	1	0	0	0	15256	652	23	1	913	1	SSX2IP	1	85124124	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	40634186	85124124	164126497	7	4481											
HSD3B1	3283	broad.mit.edu	37	chr1	120057235	120057235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggttcccttgtggaccgGcacaaggagaccctgaagtc	13	11	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:120057235G>A	ENST00000369413.3	+	4	1234	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	HSD3B1_ENST00000528909.1_Silent_p.R363R|HSD3B1_ENST00000235547.6_Silent_p.R365R			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	363					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTGTGGACCGGCACAAGGAGA	0.517																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1093-1095)cgG>cgA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						45	39	41					1																	120057235		2203	4299	6502	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057235G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1089G>A	1.37:g.120057235G>A						HSD3B1_ENST00000369413.3_Silent_p.R363R|HSD3B1_ENST00000528909.1_Silent_p.R363R	p.R365R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1234	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	363					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.1095G>A	CCDS903.1																																																																																				0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		4	154	0	0	0	1	0	4	154					A	120057235	G	A	120057235	2	1	38	1	0	0	0	0	0	0	0	1	7420	1190	42	2		2	HSD3B1	1	120057235	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	34933111	120057235	129193386	8	4482											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1	rs77113202		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	44	1	0	0.115264	1	0.116477	3	44					A	145324377	C	A	145324377	3	1	38	1	0	0	0	0	1	0	0	0	10234	768	27	3	3682	3	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	25267142	145324377	103926244	9	4483											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260	258	259					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	1373	0	0	0	1	0	7	1373					A	152382749	G	A	152382749	3	1	38	1	0	0	0	0	1	0	0	0	3901	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7058372	152382749	96867872	10	4484											
S100A3	6274	broad.mit.edu	37	chr1	153520200	153520200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggcagtccttgaagtaCtcgtggcagtagagacagag	16	7	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:153520200C>A	ENST00000368713.3	-	3	460	c.264G>T	c.(262-264)gaG>gaT	p.E88D	S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Missense_Mutation_p.E88D|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368715.1_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	88						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAAGTACTCGTGGCAGT	0.597																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(262-264)gaG>gaT		S100 calcium binding protein A3							149	133	138					1																	153520200		2203	4300	6503	SO:0001583	missense	6274						calcium ion binding|protein binding	g.chr1:153520200C>A	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.264G>T	1.37:g.153520200C>A	ENSP00000357702:p.Glu88Asp					S100A3_ENST00000368712.1_Missense_Mutation_p.E88D|S100A4_ENST00000368714.1_Intron	p.E88D	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	460	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		88					D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	c.264G>T	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485114	0.26598	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.15139	2.45;2.45	5.02	-0.489	0.12052	EF-hand-like domain (1);	0.179337	0.47093	N	0.000253	T	0.03220	0.0094	L	0.41632	1.29	0.37075	D	0.898697	B	0.06786	0.001	B	0.06405	0.002	T	0.38779	-0.9645	10	0.08837	T	0.75	.	6.8995	0.24275	0.0:0.4367:0.3951:0.1682	.	88	P33764	S10A3_HUMAN	D	88	ENSP00000357702:E88D;ENSP00000357701:E88D	ENSP00000357701:E88D	E	-	3	2	S100A3	151786824	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	0.042000	0.13949	-0.037000	0.13646	0.655000	0.94253	GAG		0.597	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		79	443	1	0	6.64046e-22	1	7.20321e-22	79	443					A	153520200	C	A	153520200	3	1	38	1	0	0	0	0	1	0	0	0	13829	564	20	3	45	3	S100A3	1	153520200	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1137451	153520200	95730421	11	4485											
UBQLN4	56893	broad.mit.edu	37	chr1	156012004	156012004	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagttgggggttccccgcGaagagcggcacattcaccat	13	12	1	1	rs192302628	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:156012004G>A	ENST00000368309.3	-	8	1382	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	430					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTCCCCGCGAAGAGCGGCA	0.617													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18705	0.0		0.0	False		,,,				2504	0.0					ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1288-1290)ttC>ttT		ubiquilin 4							44	46	45					1																	156012004		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156012004G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1290C>T	1.37:g.156012004G>A						UBQLN4_ENST00000368307.1_Intron	p.F430F	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			8	1382	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		430					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.1290C>T	CCDS1127.1																																																																																				0.617	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		46	313	0	0	0	1	0	46	313					A	156012004	G	A	156012004	2	1	38	1	0	0	0	0	0	0	0	1	16953	1049	37	1		1	UBQLN4	1	156012004	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	2491804	156012004	93238617	12	4486											
NUF2	83540	broad.mit.edu	37	chr1	163317716	163317716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgttaagcaatacaaacGcacagtaattgagtatggag	10	5	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:163317716G>A	ENST00000271452.3	+	12	1391	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	371	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.R371H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAATACAAACGCACAGTAATT	0.318																																						ENST00000271452.3																			1	Substitution - Missense(1)	p.R371H(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1111-1113)cGc>cAc		NUF2, NDC80 kinetochore complex component							69	66	67					1																	163317716		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317716G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1112G>A	1.37:g.163317716G>A	ENSP00000271452:p.Arg371His					NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1391	+	all_hematologic(923;0.101)		371			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1112G>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089136	0.36855	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.34859	1.45;1.34;1.34	6.03	4.13	0.48395	.	0.220012	0.49916	D	0.000130	T	0.07863	0.0197	N	0.16478	0.41	0.28144	N	0.929683	P;P	0.39352	0.669;0.669	B;B	0.27076	0.076;0.046	T	0.11372	-1.0590	9	0.44086	T	0.13	-6.6183	9.1986	0.37244	0.2248:0.0:0.7752:0.0	.	324;371	E9PQC4;Q9BZD4	.;NUF2_HUMAN	H	324;371;371	ENSP00000436888:R324H;ENSP00000356875:R371H;ENSP00000271452:R371H	ENSP00000271452:R371H	R	+	2	0	NUF2	161584340	0.995000	0.38212	0.857000	0.33713	0.990000	0.78478	1.124000	0.31320	1.521000	0.48983	0.655000	0.94253	CGC		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		31	182	0	0	0	1	0	31	182					A	163317716	G	A	163317716	3	1	38	1	0	0	0	0	1	0	0	0	10789	1087	38	1	1154	1	NUF2	1	163317716	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7305712	163317716	85932905	13	4487											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		15	520						15	520	---	---	---	---	A	183515267	-	A	183515266	7	5	38	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	20197550	183515266	65735355	14	4488											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	751						7	751	---	---	---	---	-	183616828	TTC	-	183616826	7	5	38	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-3A-A9J0-01A-11D-A40W-08	101560	183616826	65633795	15	4489											
HMCN1	83872	broad.mit.edu	37	chr1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcaggatgctaCggctgatgcagaccacaatg	14	10	0	2	rs376132541	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				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)			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						CAGGATGCTACGGCTGATGCA	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		16462	0.0		0.0	False		,,,				2504	0.002					ENST00000271588.4																			0				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						c.(7327-7329)Cgg>Tgg		hemicentin 1		C	TRP/ARG	0,4406		0,0,2203	87	94	92		7327	4.4	0.3	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2443/5636	186030997	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186030997C>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.7327C>T	1.37:g.186030997C>T	ENSP00000271588:p.Arg2443Trp					HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			47	7556	+			2443			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7327C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274075	0.80580	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.39	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.37606	T	0.19	.	14.5328	0.67939	0.1471:0.8529:0.0:0.0	.	2443	Q96RW7	HMCN1_HUMAN	W	2443	ENSP00000271588:R2443W;ENSP00000356462:R2443W	ENSP00000271588:R2443W	R	+	1	2	HMCN1	184297620	1.000000	0.71417	0.330000	0.25442	0.846000	0.48090	4.567000	0.60850	2.528000	0.85240	0.591000	0.81541	CGG		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		48	211	0	0	0	1	0	48	211					T	186030997	C	T	186030997	3	4	38	1	0	0	0	0	1	0	0	0	7250	527	19	1	7513	1	HMCN1	1	186030997	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	2414171	186030997	63219624	16	4490											
PRG4	10216	broad.mit.edu	37	chr1	186276064	186276064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccaaggagcctGcacccaccactcccaaggag	7	20	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:186276064G>T	ENST00000445192.2	+	7	1258	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	PRG4_ENST00000367486.3_Missense_Mutation_p.A362S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CAAGGAGCCTGCACCCACCAC	0.657																																						ENST00000445192.2																			0				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						c.(1213-1215)Gca>Tca		proteoglycan 4							91	86	88					1																	186276064		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276064G>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.1213G>T	1.37:g.186276064G>T	ENSP00000399679:p.Ala405Ser					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S	p.A405S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1258	+			405			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1213G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.260	0.416005	0.11870	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06142	3.34;3.44;3.39;3.46	3.29	-0.723	0.11181	.	.	.	.	.	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.004;0.007	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.46005	-0.9222	8	.	.	.	.	0.4948	0.00570	0.1791:0.2004:0.2175:0.4031	.	271;312;405;364	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	362;271;364;312;405	ENSP00000356456:A362S;ENSP00000356453:A364S;ENSP00000356455:A312S;ENSP00000399679:A405S	.	A	+	1	0	PRG4	184542687	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.332000	0.07904	0.056000	0.16144	-0.420000	0.06012	GCA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	415	1	0	0.184627	1	0.184627	5	415					T	186276064	G	T	186276064	3	4	38	1	0	0	0	0	1	0	0	0	12528	1319	46	3	1235	3	PRG4	1	186276064	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	245067	186276064	62974557	17	4491											
ASPM	259266	broad.mit.edu	37	chr1	197072286	197072286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctcactttcataccaCgataagctgactgtaaagtt	5	9	2	1	rs149033840		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:197072286C>T	ENST00000367409.4	-	18	6351	c.6095G>A	c.(6094-6096)cGt>cAt	p.R2032H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2032	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCATACCACGATAAGCTGA	0.333																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6094-6096)cGt>cAt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			,HIS/ARG	0,4406		0,0,2203	95	99	98		,6095	5.6	0.7	1	dbSNP_134	98	1,8593	1.2+/-3.3	0,1,4296	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,2032/3478	197072286	1,12999	2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072286C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6095G>A	1.37:g.197072286C>T	ENSP00000356379:p.Arg2032His					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R2032H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6351	-			2032			IQ 14.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6095G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	29.9	5.043488	0.93685	0.0	1.16E-4	ENSG00000066279	ENST00000367409	T	0.77098	-1.07	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	D	0.93012	0.7776	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95297	0.8400	10	0.87932	D	0	.	18.5928	0.91220	0.0:1.0:0.0:0.0	.	2032	Q8IZT6	ASPM_HUMAN	H	2032	ENSP00000356379:R2032H	ENSP00000356379:R2032H	R	-	2	0	ASPM	195338909	1.000000	0.71417	0.711000	0.30485	0.987000	0.75469	4.754000	0.62191	2.635000	0.89317	0.632000	0.83419	CGT		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		84	333	0	0	0	1	0	84	333					T	197072286	C	T	197072286	3	4	38	1	0	0	0	0	1	0	0	0	1057	536	19	1	4382	1	ASPM	1	197072286	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	10796222	197072286	52178335	18	4492											
DISP1	84976	broad.mit.edu	37	chr1	223175862	223175862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatagttgagcgagacGtttctcataccttgaagctg	10	7	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:223175862G>A	ENST00000284476.6	+	8	1287	c.1123G>A	c.(1123-1125)Gtt>Att	p.V375I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	375					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGCGAGACGTTTCTCATAC	0.527											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1123-1125)Gtt>Att		dispatched homolog 1 (Drosophila)							104	95	98					1																	223175862		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223175862G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1123G>A	1.37:g.223175862G>A	ENSP00000284476:p.Val375Ile		OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2287		p.V375I	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1287	+			375					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1123G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730061	0.30684	.	.	ENSG00000154309	ENST00000284476	D	0.86164	-2.08	5.25	4.33	0.51752	.	0.114979	0.64402	D	0.000013	D	0.82765	0.5108	L	0.43598	1.365	0.58432	D	0.999992	P	0.43314	0.803	B	0.39935	0.314	T	0.81145	-0.1066	10	0.27785	T	0.31	-17.2678	16.1121	0.81271	0.0:0.1337:0.8663:0.0	.	375	Q96F81	DISP1_HUMAN	I	375	ENSP00000284476:V375I	ENSP00000284476:V375I	V	+	1	0	DISP1	221242485	1.000000	0.71417	0.522000	0.27862	0.672000	0.39443	5.135000	0.64777	1.433000	0.47394	0.655000	0.94253	GTT		0.527	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		116	239	0	0	0	1	0	116	239					A	223175862	G	A	223175862	3	1	38	1	0	0	0	0	1	0	0	0	4555	1145	40	1	1149	1	DISP1	1	223175862	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	26103576	223175862	26074759	19	4493											
CDC42BPA	8476	broad.mit.edu	37	chr1	227223274	227223274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagtggttggagctttGtttacacaagttatatggca	12	5	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:227223274G>A	ENST00000366769.3	-	24	4420	c.3129C>T	c.(3127-3129)aaC>aaT	p.N1043N	CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N|CDC42BPA_ENST00000366765.3_Silent_p.N1056N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366767.3_Silent_p.N962N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGGAGCTTTGTTTACACAAG	0.373																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3127-3129)aaC>aaT		CDC42 binding protein kinase alpha (DMPK-like)							95	95	95					1																	227223274		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227223274G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3129C>T	1.37:g.227223274G>A						CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N|CDC42BPA_ENST00000366765.3_Silent_p.N1056N	p.N1043N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			24	4420	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1056						Silent	SNP	ENST00000366769.3	37	c.3129C>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169942	0.21621	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	.	.	.	X	246;372;268	.	.	Q	-	1	0	CDC42BPA	225289897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	2.740000	0.93945	0.650000	0.86243	CAA		0.373	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		69	355	0	0	0	1	0	69	355					A	227223274	G	A	227223274	2	1	38	1	0	0	0	0	0	0	0	1	3081	1368	48	2		2	CDC42BPA	1	227223274	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	4047412	227223274	22027347	20	4494											
WNT3A	89780	broad.mit.edu	37	chr1	228246856	228246856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcaccgggagtcccGcggctgggtggagaccctgc	18	12	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:228246856G>A	ENST00000284523.1	+	4	827	c.749G>A	c.(748-750)cGc>cAc	p.R250H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	250					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGGAGTCCCGCGGCTGGGTG	0.657																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(748-750)cGc>cAc		wingless-type MMTV integration site family, member 3A							47	51	50					1																	228246856		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246856G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.749G>A	1.37:g.228246856G>A	ENSP00000284523:p.Arg250His					WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	p.R250H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			4	827	+		Prostate(94;0.0405)	250					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.749G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345122	0.95807	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76448	-1.02;-1.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85283	0.5661	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	D	0.86836	0.2014	10	0.66056	D	0.02	.	17.9461	0.89039	0.0:0.0:1.0:0.0	.	250;250	P56704;Q3SY79	WNT3A_HUMAN;.	H	250	ENSP00000284523:R250H;ENSP00000355715:R250H	ENSP00000284523:R250H	R	+	2	0	WNT3A	226313479	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.733000	0.98818	2.300000	0.77407	0.491000	0.48974	CGC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		39	211	0	0	0	1	0	39	211					A	228246856	G	A	228246856	3	1	38	1	0	0	0	0	1	0	0	0	17443	1087	38	1	763	1	WNT3A	1	228246856	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	1023582	228246856	21003765	21	4495											
OR2M4	26245	broad.mit.edu	37	chr1	248402386	248402386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttctcctcatctacatagaGaaacagctccacacccccat	4	16	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:248402386G>T	ENST00000306687.1	+	1	156	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	52					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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACATAGAGAAACAGCTCC	0.478																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(154-156)gaG>gaT		olfactory receptor, family 2, subfamily M, member 4							203	190	195					1																	248402386		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402386G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.156G>T	1.37:g.248402386G>T	ENSP00000306688:p.Glu52Asp						p.E52D	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	156	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		52					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.156G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.029643	0.00041	.	.	ENSG00000171180	ENST00000306687	T	0.02140	4.43	3.08	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.344625	0.20655	N	0.088135	T	0.00468	0.0015	N	0.00140	-2.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46735	-0.9170	10	0.02654	T	1	.	2.8665	0.05603	0.1816:0.523:0.1817:0.1137	.	52	Q96R27	OR2M4_HUMAN	D	52	ENSP00000306688:E52D	ENSP00000306688:E52D	E	+	3	2	OR2M4	246469009	0.000000	0.05858	0.096000	0.21009	0.114000	0.19823	-2.414000	0.01037	0.614000	0.30107	-0.268000	0.10319	GAG		0.478	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		98	644	1	0	9.06123e-46	1	1.00564e-45	98	644					T	248402386	G	T	248402386	3	4	38	1	0	0	0	0	1	0	0	0	11054	933	33	3	158	3	OR2M4	1	248402386	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	20155530	248402386	848235	22	4496											
TEKT4	150483	broad.mit.edu	37	chr2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G													accgaggtgcaggctcatccINSgtactccaccaccttccaag					rs149873671		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																						ENST00000295201.4																			1	Substitution - coding silent(1)	p.P230P(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(688-690)ctafs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L230fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	826_827	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	422						7	422	---	---	---	---	G	95539830	-	G	95539829	7	5	38	1	0	1	1	0	0	0	0	0	15807	652	23	0	699	0	TEKT4	2	95539829	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08		95539829	147659544	23	4497											
RGPD3	653489	broad.mit.edu	37	chr2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33	53	47					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	2804						7	2804	---	---	---	---	-	107041534	A	-	107041534	7	5	38	1	0	1	0	1	0	0	0	0	13337	127	5	0	2403	0	RGPD3	2	107041534	Frame_Shift_Del	DEL	A	TCGA-3A-A9J0-01A-11D-A40W-08	11501705	107041534	136157839	24	4498											
GCC2	9648	broad.mit.edu	37	chr2	109092224	109092224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagacccagactgtgaaggAagaacttgaatctcttcgat	9	9	1	5			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109092224A>G	ENST00000309863.6	+	9	3692	c.2978A>G	c.(2977-2979)gAa>gGa	p.E993G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	993					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTGTGAAGGAAGAACTTGAA	0.313																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2977-2979)gAa>gGa		GRIP and coiled-coil domain containing 2							48	53	51					2																	109092224		2203	4296	6499	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109092224A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2978A>G	2.37:g.109092224A>G	ENSP00000307939:p.Glu993Gly						p.E993G	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			9	3692	+			993					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2978A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561512	0.65538	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.69	4.47	0.54385	.	0.060927	0.64402	D	0.000005	T	0.36193	0.0958	M	0.65975	2.015	0.43719	D	0.996197	D	0.53619	0.961	P	0.44597	0.454	T	0.14643	-1.0465	10	0.35671	T	0.21	.	8.0869	0.30777	0.7272:0.1393:0.0:0.1335	.	993	Q8IWJ2	GCC2_HUMAN	G	993	ENSP00000307939:E993G	ENSP00000307939:E993G	E	+	2	0	GCC2	108458656	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	4.657000	0.61490	2.296000	0.77279	0.533000	0.62120	GAA		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		107	285	0	0	0	1	0	107	285					G	109092224	A	G	109092224	3	3	38	1	0	0	0	0	1	0	0	0	6314	246	9	4	3012	4	GCC2	2	109092224	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	2050690	109092224	134107149	25	4499											
CKAP2L	150468	broad.mit.edu	37	chr2	113514074	113514074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgactactggtttctttgAtgactgaactttactaaggg	9	7	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:113514074A>G	ENST00000302450.6	-	4	952	c.874T>C	c.(874-876)Tca>Cca	p.S292P	CKAP2L_ENST00000541405.1_Missense_Mutation_p.S127P|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	292						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGTTTCTTTGATGACTGAACT	0.403																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(379-381)Tca>Cca		cytoskeleton associated protein 2-like							94	98	96					2																	113514074		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514074A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.874T>C	2.37:g.113514074A>G	ENSP00000305204:p.Ser292Pro					CKAP2L_ENST00000302450.6_Missense_Mutation_p.S292P	p.S127P			Q8IYA6	CKP2L_HUMAN			4	902	-			292					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.379T>C	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	5.274	0.235997	0.10023	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.18657	2.2;2.87	4.69	-2.55	0.06288	.	0.644272	0.13672	N	0.370817	T	0.10723	0.0262	L	0.33485	1.01	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.27123	-1.0083	10	0.33141	T	0.24	-0.2642	0.2847	0.00249	0.3956:0.1484:0.1686:0.2874	.	292	Q8IYA6	CKP2L_HUMAN	P	127;292	ENSP00000438763:S127P;ENSP00000305204:S292P	ENSP00000305204:S292P	S	-	1	0	CKAP2L	113230545	0.527000	0.26306	0.001000	0.08648	0.091000	0.18340	0.044000	0.13992	-0.386000	0.07821	0.477000	0.44152	TCA		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		154	373	0	0	0	1	0	154	373					G	113514074	A	G	113514074	3	3	38	1	0	0	0	0	1	0	0	0	3452	333	12	4	1387	4	CKAP2L	2	113514074	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	4421850	113514074	129685299	26	4500											
GPR39	2863	broad.mit.edu	37	chr2	133402714	133402714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgtatgctggatgcccaaCcagattcggaggatcatggc	13	11	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:133402714C>G	ENST00000329321.3	+	2	1366	c.897C>G	c.(895-897)aaC>aaG	p.N299K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	299					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCCAACCAGATTCGGA	0.547																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(895-897)aaC>aaG		G protein-coupled receptor 39							88	76	80					2																	133402714		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402714C>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.897C>G	2.37:g.133402714C>G	ENSP00000327417:p.Asn299Lys					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.N299K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1366	+			299					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.897C>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795528	0.50208	.	.	ENSG00000183840	ENST00000329321	T	0.71817	-0.6	5.3	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.108898	0.64402	D	0.000010	T	0.78104	0.4231	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	D	0.66847	0.947	T	0.77531	-0.2553	10	0.62326	D	0.03	.	9.5552	0.39334	0.0:0.7715:0.0:0.2285	.	299	O43194	GPR39_HUMAN	K	299	ENSP00000327417:N299K	ENSP00000327417:N299K	N	+	3	2	GPR39	133119184	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.664000	0.25068	0.799000	0.34018	0.650000	0.86243	AAC		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			81	251	0	0	0	1	0	81	251					G	133402714	C	G	133402714	3	3	38	1	0	0	0	0	1	0	0	0	6722	506	18	5	903	5	GPR39	2	133402714	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	19888640	133402714	109796659	27	4501											
ERBB4	2066	broad.mit.edu	37	chr2	212589855	212589855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacattctcgatggcaGcagtcactgacgtaaggtcc	10	13	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:212589855G>A	ENST00000342788.4	-	6	997	c.687C>T	c.(685-687)tgC>tgT	p.C229C	ERBB4_ENST00000402597.1_Silent_p.C229C|ERBB4_ENST00000436443.1_Silent_p.C229C|ERBB4_ENST00000484474.1_5'Flank	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	229	Cys-rich.				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)			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)	CTCGATGGCAGCAGTCACTGA	0.483										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(685-687)tgC>tgT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							141	125	131					2																	212589855		2203	4300	6503	SO:0001819	synonymous_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.chr2:212589855G>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.687C>T	2.37:g.212589855G>A		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.C229C|ERBB4_ENST00000402597.1_Silent_p.C229C	p.C229C	NM_005235.2	NP_005226.1	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)	6	997	-		Renal(323;0.06)|Lung NSC(271;0.197)	229			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.687C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555768	0.27827	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	4.86	0.63082	.	.	.	.	.	T	0.70343	0.3213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69727	-0.5067	4	.	.	.	.	14.5226	0.67863	0.0703:0.0:0.9297:0.0	.	.	.	.	V	229	.	.	A	-	2	0	ERBB4	212298100	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.210000	0.58500	1.433000	0.47394	0.650000	0.86243	GCT		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		5	413	0	0	0	1	0	5	413					A	212589855	G	A	212589855	2	1	38	1	0	0	0	0	0	0	0	1	5227	963	34	2		2	ERBB4	2	212589855	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	79187141	212589855	30609518	28	4502											
ABCB6	10058	broad.mit.edu	37	chr2	220080843	220080843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagcagctccacccGccgagacgtgaactgctgca	12	13	0	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:220080843G>A	ENST00000265316.3	-	5	1346	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	344	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCCACCCGCCGAGACGTG	0.687																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1030-1032)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 6							24	27	26					2																	220080843		2193	4294	6487	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220080843G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1030C>T	2.37:g.220080843G>A	ENSP00000265316:p.Arg344Trp					ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	p.R344W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1346	-		Renal(207;0.0474)	344			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1030C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282959	0.40394	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94376	-2.67;-3.41	5.07	2.06	0.26882	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.770646	0.12487	N	0.464574	D	0.94686	0.8286	M	0.71206	2.165	0.18873	N	0.999982	D;D	0.56746	0.975;0.977	P;P	0.55303	0.663;0.773	D	0.87676	0.2544	10	0.72032	D	0.01	-1.3565	12.0339	0.53415	0.0:0.4794:0.3877:0.1328	.	298;344	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	344;298	ENSP00000265316:R344W;ENSP00000394333:R298W	ENSP00000265316:R344W	R	-	1	2	ABCB6	219789087	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	1.031000	0.30165	0.306000	0.22856	0.650000	0.86243	CGG		0.687	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		11	45	0	0	0	1	0	11	45					A	220080843	G	A	220080843	3	1	38	1	0	0	0	0	1	0	0	0	45	1086	38	1	1558	1	ABCB6	2	220080843	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7490988	220080843	23118530	29	4503											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	273						8	273	---	---	---	---	-	227660810	GCT	-	227660808	7	5	38	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-3A-A9J0-01A-11D-A40W-08	7579965	227660808	15538565	30	4504											
COL4A4	1286	broad.mit.edu	37	chr2	227920747	227920747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccatgtgccccaggcCgtcctgggagtccggggagg	19	12	0	0	rs150979437	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:227920747C>T	ENST00000396625.3	-	30	2837	c.2630G>A	c.(2629-2631)cGg>cAg	p.R877Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.R877Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	877	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGCCCCAGGCCGTCCTGGGAG	0.627													C|||	26	0.00519169	0.0	0.0	5008	,	,		15399	0.0258		0.0	False		,,,				2504	0.0					ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2629-2631)cGg>cAg		collagen, type IV, alpha 4		C	GLN/ARG	4,3654		0,4,1825	36	39	39		2630	-1.9	0	2	dbSNP_134	39	27,8121		0,27,4047	no	missense	COL4A4	NM_000092.4	43	0,31,5872	TT,TC,CC		0.3314,0.1093,0.2626	benign	877/1691	227920747	31,11775	1829	4074	5903	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227920747C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2630G>A	2.37:g.227920747C>T	ENSP00000379866:p.Arg877Gln					COL4A4_ENST00000329662.7_Missense_Mutation_p.R877Q	p.R877Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	30	2837	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	877			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2630G>A	CCDS42828.1	224	0.10256410256410256	71	0.1443089430894309	23	0.06353591160220995	44	0.07692307692307693	86	0.11345646437994723	C	3.151	-0.174203	0.06421	0.001093	0.003314	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93307	-3.2;-3.2	5.63	-1.9	0.07665	.	.	.	.	.	T	0.02533	0.0077	N	0.16743	0.435	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40701	-0.9549	9	0.13470	T	0.59	.	2.2257	0.03983	0.2432:0.4338:0.1032:0.2199	.	877	P53420	CO4A4_HUMAN	Q	877	ENSP00000379866:R877Q;ENSP00000328553:R877Q	ENSP00000328553:R877Q	R	-	2	0	COL4A4	227628991	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.006000	0.13152	-0.756000	0.04703	-0.271000	0.10264	CGG		0.627	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		29	183	0	0	0	1	0	29	183					T	227920747	C	T	227920747	3	4	38	1	0	0	0	0	1	0	0	0	3702	652	23	1	2518	1	COL4A4	2	227920747	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	259939	227920747	15278626	31	4505											
LRRFIP1	9208	broad.mit.edu	37	chr2	238671269	238671269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtgaagtggaggtgAaaaatgaaatcgtggcgaat	15	4	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:238671269A>G	ENST00000392000.4	+	11	1030	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.K281E|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	305					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTGGAGGTGAAAAATGAAAT	0.433																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(841-843)Aaa>Gaa		leucine rich repeat (in FLII) interacting protein 1							56	53	54					2																	238671269		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671269A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.913A>G	2.37:g.238671269A>G	ENSP00000375857:p.Lys305Glu					LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K305E|LRRFIP1_ENST00000308482.9_Intron	p.K281E	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1081	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	305					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.841A>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.655875	0.67586	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.47528	0.84;0.84;0.84	5.69	0.0731	0.14389	.	0.837827	0.10426	N	0.676077	T	0.37785	0.1016	L	0.51422	1.61	0.21445	N	0.999689	B;B;B	0.27882	0.192;0.046;0.1	B;B;B	0.25759	0.063;0.046;0.027	T	0.29640	-1.0005	10	0.45353	T	0.12	-15.096	6.5329	0.22336	0.6466:0.1247:0.2287:0.0	.	249;305;281	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	E	249;281;305	ENSP00000289175:K249E;ENSP00000244815:K281E;ENSP00000375857:K305E	ENSP00000244815:K281E	K	+	1	0	LRRFIP1	238336008	0.972000	0.33761	0.276000	0.24689	0.948000	0.59901	0.407000	0.21049	0.095000	0.17434	0.528000	0.53228	AAA		0.433	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		4	212	0	0	0	1	0	4	212					G	238671269	A	G	238671269	3	3	38	1	0	0	0	0	1	0	0	0	9065	247	9	4	1631	4	LRRFIP1	2	238671269	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	10750522	238671269	4528104	32	4506											
KIF1A	547	broad.mit.edu	37	chr2	241697827	241697827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaaggggtctccgccGgtcaccacgttgtcacagtc	11	13	4	1	rs370648599		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:241697827G>A	ENST00000320389.7	-	25	2663	c.2505C>T	c.(2503-2505)acC>acT	p.T835T	KIF1A_ENST00000498729.2_Silent_p.T844T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	835					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T835T(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCCGCCGGTCACCACGT	0.637																																						ENST00000498729.2																			1	Substitution - coding silent(1)	p.T835T(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2530-2532)acC>acT		kinesin family member 1A		G		1,4319		0,1,2159	59	69	66		2505	-5.2	0.9	2		66	0,8514		0,0,4257	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6416	AA,AG,GG		0.0,0.0231,0.0078		835/1691	241697827	1,12833	2160	4257	6417	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241697827G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2505C>T	2.37:g.241697827G>A						KIF1A_ENST00000320389.7_Silent_p.T835T	p.T844T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2778	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	835					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2532C>T	CCDS46561.1																																																																																				0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		12	93	0	0	0	1	0	12	93					A	241697827	G	A	241697827	2	1	38	1	0	0	0	0	0	0	0	1	8313	1103	39	1		1	KIF1A	2	241697827	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	3026558	241697827	1501546	33	4507											
PASK	23178	broad.mit.edu	37	chr2	242065640	242065640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatctcgatggtagcagCtcccggagtaggcaccctcc	11	15	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:242065640C>T	ENST00000405260.1	-	10	3388	c.2690G>A	c.(2689-2691)aGc>aAc	p.S897N	PASK_ENST00000539818.1_Missense_Mutation_p.S681N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000403638.3_Missense_Mutation_p.S897N|PASK_ENST00000544142.1_Missense_Mutation_p.S711N	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	897					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGGTAGCAGCTCCCGGAGTA	0.647																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2689-2691)aGc>aAc		PAS domain containing serine/threonine kinase							73	58	63					2																	242065640		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065640C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2690G>A	2.37:g.242065640C>T	ENSP00000384016:p.Ser897Asn					PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000405260.1_Missense_Mutation_p.S897N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N	p.S897N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2781	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	897					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2690G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837154	0.16891	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.34;-0.37;0.58	4.94	3.07	0.35406	.	0.267711	0.32357	N	0.006217	T	0.68943	0.3056	L	0.53249	1.67	0.26862	N	0.967935	B;B;B;D;B	0.65815	0.245;0.36;0.2;0.995;0.245	B;B;B;P;B	0.61477	0.052;0.112;0.069;0.889;0.052	T	0.57602	-0.7783	10	0.28530	T	0.3	.	5.2403	0.15467	0.0:0.644:0.1701:0.1859	.	862;711;897;897;897	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	N	897;711;897;897;681;897	ENSP00000234040:S897N;ENSP00000441374:S711N;ENSP00000384016:S897N;ENSP00000351475:S897N;ENSP00000443083:S681N;ENSP00000384438:S897N	ENSP00000234040:S897N	S	-	2	0	PASK	241714313	0.998000	0.40836	0.992000	0.48379	0.111000	0.19643	0.836000	0.27545	1.084000	0.41184	0.561000	0.74099	AGC		0.647	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		54	127	0	0	0	1	0	54	127					T	242065640	C	T	242065640	3	4	38	1	0	0	0	0	1	0	0	0	11514	797	28	2	1317	2	PASK	2	242065640	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	367813	242065640	1133733	34	4508											
ITPR1	3708	broad.mit.edu	37	chr3	4718357	4718357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacccaggtggtgctcCggggaggaggctttttgccc	16	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:4718357C>T	ENST00000443694.2	+	21	2794	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R947W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R932W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	947					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTGGTGCTCCGGGGAGGAGG	0.562																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2794-2796)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 1							74	79	77					3																	4718357		2050	4197	6247	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4718357C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2794C>T	3.37:g.4718357C>T	ENSP00000401671:p.Arg932Trp					ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R947W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R932W	p.R932W	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	23	3144	+			947					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2794C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400893	0.62177	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.1	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.91723	0.7383	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;P;D	0.63283	0.821;0.895;0.913	D	0.91805	0.5455	10	0.72032	D	0.01	.	11.6166	0.51094	0.252:0.748:0.0:0.0	.	932;947;938	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	W	947;932;947;938;938;923;932	ENSP00000306253:R932W;ENSP00000346595:R947W;ENSP00000405934:R938W;ENSP00000349597:R938W;ENSP00000397885:R923W;ENSP00000401671:R932W	ENSP00000306253:R932W	R	+	1	2	ITPR1	4693357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.115000	0.41921	2.280000	0.76307	0.313000	0.20887	CGG		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		35	104	0	0	0	1	0	35	104					T	4718357	C	T	4718357	3	4	38	1	0	0	0	0	1	0	0	0	7950	643	23	1	2925	1	ITPR1	3	4718357	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		4718357	193304073	35	4509											
STAC	6769	broad.mit.edu	37	chr3	36547239	36547239	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttattttctctttcaggGatctctttccaaagacccat	4	11	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36547239G>A	ENST00000273183.3	+	8	1133	c.833G>A	c.(832-834)gGa>gAa	p.G278E	STAC_ENST00000457375.2_Splice_Site_p.G217E|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ctctttcAGGGATCTCTTTCC	0.338																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.e8-1		SH3 and cysteine rich domain							41	43	42					3																	36547239		2203	4296	6499	SO:0001630	splice_region_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36547239G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.832-1G>A	3.37:g.36547239G>A						STAC_ENST00000457375.2_Splice_Site_p.G217_splice|STAC_ENST00000476388.1_3'UTR	p.G278_splice	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			8	1133	+			278					B2R8S8	Splice_Site	SNP	ENST00000273183.3	37	c.831_splice	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	8.374	0.835918	0.16820	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.75367	-0.93;1.09;1.57	5.21	-0.896	0.10557	Src homology-3 domain (1);	0.496999	0.22073	N	0.065008	T	0.48572	0.1507	N	0.24115	0.695	0.39959	D	0.974646	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.44081	-0.9351	10	0.02654	T	1	.	6.0123	0.19582	0.3402:0.1237:0.5361:0.0	.	217;278	E9PEA7;Q99469	.;STAC_HUMAN	E	278;217;210;206	ENSP00000273183:G278E;ENSP00000393713:G217E;ENSP00000398403:G206E	ENSP00000273183:G278E	G	+	2	0	STAC	36522243	0.996000	0.38824	0.975000	0.42487	0.667000	0.39255	0.231000	0.17872	-0.428000	0.07339	-0.145000	0.13849	GGA		0.338	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	Missense_Mutation	47	102	0	0	0	1	0	47	102					A	36547239	G	A	36547239	5	1	38	1	0	0	0	0	0	0	1	0	15291	1188	41	2	863	2	STAC	3	36547239	Splice_Site	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	31828882	36547239	161475191	36	4510											
DCLK3	85443	broad.mit.edu	37	chr3	36779648	36779648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcatacattgggcccTtccccatatccagctcactg	5	17	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36779648T>C	ENST00000416516.2	-	2	993	c.503A>G	c.(502-504)aAg>aGg	p.K168R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTGGGCCCTTCCCCATATC	0.567																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(502-504)aAg>aGg		doublecortin-like kinase 3							112	118	116					3																	36779648		1984	4153	6137	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779648T>C	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.503A>G	3.37:g.36779648T>C	ENSP00000394484:p.Lys168Arg						p.K168R	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	993	-			168						Missense_Mutation	SNP	ENST00000416516.2	37	c.503A>G	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	T	5.009	0.187282	0.09547	.	.	ENSG00000163673	ENST00000416516	T	0.67171	-0.25	4.7	-2.05	0.07321	.	0.350599	0.17768	N	0.162674	T	0.34832	0.0911	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23797	-1.0178	10	0.10377	T	0.69	.	6.1062	0.20075	0.2212:0.4608:0.0:0.318	.	168	Q9C098	DCLK3_HUMAN	R	168	ENSP00000394484:K168R	ENSP00000394484:K168R	K	-	2	0	DCLK3	36754652	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	-0.855000	0.04295	-0.571000	0.06014	0.533000	0.62120	AAG		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		171	360	0	0	0	1	0	171	360					C	36779648	T	C	36779648	3	2	38	1	0	0	0	0	1	0	0	0	4304	1609	56	4	1459	4	DCLK3	3	36779648	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	232409	36779648	161242782	37	4511											
CTNNB1	1499	broad.mit.edu	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	rs121913407		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(133-135)Tct>Cct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						84	74	78					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266136T>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro					CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P	p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	413	+			45		Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.133T>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		81	173	0	0	0	1	0	81	173					C	41266136	T	C	41266136	3	2	38	1	0	0	0	0	1	0	0	0	4027	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	4486488	41266136	156756294	38	4512											
ALS2CL	259173	broad.mit.edu	37	chr3	46728567	46728567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggcccagcgatgcgCccaccgagccctctgagctc	13	18	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:46728567C>T	ENST00000318962.4	-	5	523	c.440G>A	c.(439-441)gGc>gAc	p.G147D	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	147					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGCGATGCGCCCACCGAGCC	0.677																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(439-441)gGc>gAc		ALS2 C-terminal like							37	37	37					3																	46728567		2200	4298	6498	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46728567C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.440G>A	3.37:g.46728567C>T	ENSP00000313670:p.Gly147Asp					ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	p.G147D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	5	523	-			147					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.440G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072447	0.20147	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17528	2.27;2.27	4.18	2.22	0.28083	Dbl homology (DH) domain (1);	0.498524	0.18254	N	0.146852	T	0.10208	0.0250	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.18871	-1.0323	10	0.35671	T	0.21	.	3.9061	0.09183	0.0:0.5781:0.2013:0.2207	.	147	Q60I27	AL2CL_HUMAN	D	147	ENSP00000313670:G147D;ENSP00000413223:G147D	ENSP00000313670:G147D	G	-	2	0	ALS2CL	46703571	0.005000	0.15991	0.015000	0.15790	0.001000	0.01503	0.589000	0.23939	1.103000	0.41568	0.591000	0.81541	GGC		0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		14	38	0	0	0	1	0	14	38					T	46728567	C	T	46728567	3	4	38	1	0	0	0	0	1	0	0	0	551	739	26	2	2509	2	ALS2CL	3	46728567	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5462431	46728567	151293863	39	4513											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		8	325						8	325	---	---	---	---	-	49094316	TGC	-	49094314	7	5	38	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-3A-A9J0-01A-11D-A40W-08	2365747	49094314	148928116	40	4514											
MYH15	22989	broad.mit.edu	37	chr3	108172884	108172884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttctggaatttgattcGcatcagtttgccctgtgctc	8	10	3	1	rs201762535		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:108172884G>A	ENST00000273353.3	-	22	2484	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	810	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATTCGCATCAGTTTG	0.448																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2428-2430)Cga>Tga		myosin, heavy chain 15		G	stop/ARG	1,3835		0,1,1917	103	95	98		2428	-4.7	0	3		98	1,8283		0,1,4141	yes	stop-gained	MYH15	NM_014981.1		0,2,6058	AA,AG,GG		0.0121,0.0261,0.0165		810/1947	108172884	2,12118	1918	4142	6060	SO:0001587	stop_gained	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108172884G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2428C>T	3.37:g.108172884G>A	ENSP00000273353:p.Arg810*						p.R810*	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			22	2484	-			810			IQ.			Nonsense_Mutation	SNP	ENST00000273353.3	37	c.2428C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993775	0.97987	2.61E-4	1.21E-4	ENSG00000144821	ENST00000273353	.	.	.	5.51	-4.68	0.03309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4871	0.16755	0.2937:0.0:0.3652:0.3411	.	.	.	.	X	810	.	ENSP00000273353:R810X	R	-	1	2	MYH15	109655574	0.146000	0.22672	0.000000	0.03702	0.931000	0.56810	-0.349000	0.07731	-0.540000	0.06265	-0.897000	0.02905	CGA		0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		34	225	0	0	0	1	0	34	225					A	108172884	G	A	108172884	4	1	38	1	0	0	0	0	0	1	0	0	10075	1095	38	1	3496	1	MYH15	3	108172884	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	59078570	108172884	89849546	41	4515											
TBCCD1	55171	broad.mit.edu	37	chr3	186276243	186276243	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttttcagtcaggtcaggaGactgagatttgtttctggga	12	5	4	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186276243G>A	ENST00000424280.1	-	3	934	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	152					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGGTCAGGAGACTGAGATTT	0.403																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(454-456)tCt>tTt		TBCC domain containing 1							143	144	144					3																	186276243		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276243G>A	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.455C>T	3.37:g.186276243G>A	ENSP00000411253:p.Ser152Phe					TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F	p.S152F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	934	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		152					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.455C>T	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933597	0.73442	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;0.7	5.24	5.24	0.73138	.	0.207799	0.43747	D	0.000530	T	0.77579	0.4151	M	0.61703	1.905	0.43930	D	0.996586	P;P	0.50819	0.939;0.807	P;B	0.53490	0.727;0.401	T	0.75482	-0.3302	10	0.33940	T	0.23	-19.0802	10.1928	0.43037	0.0911:0.0:0.9089:0.0	.	56;152	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	F	152;152;56;152;136	ENSP00000411253:S152F;ENSP00000341652:S152F;ENSP00000397091:S56F;ENSP00000391109:S152F;ENSP00000407506:S136F	ENSP00000341652:S152F	S	-	2	0	TBCCD1	187758937	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.081000	0.76844	2.607000	0.88179	0.655000	0.94253	TCT		0.403	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		197	476	0	0	0	1	0	197	476					A	186276243	G	A	186276243	3	1	38	1	0	0	0	0	1	0	0	0	15684	942	33	2	1238	2	TBCCD1	3	186276243	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	78103359	186276243	11746187	42	4516											
RFC4	5984	broad.mit.edu	37	chr3	186518951	186518951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactgcaaccacttcttcCtggaaagcaacttcatccac	5	15	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186518951C>T	ENST00000392481.2	-	3	446	c.165G>A	c.(163-165)caG>caA	p.Q55Q	RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	55					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACTTCTTCCTGGAAAGCAA	0.383																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(163-165)caG>caA		replication factor C (activator 1) 4, 37kDa							119	128	125					3																	186518951		2203	4300	6503	SO:0001819	synonymous_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186518951C>T		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.165G>A	3.37:g.186518951C>T						RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	p.Q55Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	3	446	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		55					B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	c.165G>A	CCDS3283.1																																																																																				0.383	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		93	475	0	0	0	1	0	93	475					T	186518951	C	T	186518951	2	4	38	1	0	0	0	0	0	0	0	1	13297	680	24	2		2	RFC4	3	186518951	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	242708	186518951	11503479	43	4517											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	120	0	0	0	1	0	4	120					C	79792085	G	C	79792085	3	2	38	1	0	0	0	0	1	0	0	0	1462	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		79792085	111362191	44	4518											
HSD17B13	345275	broad.mit.edu	37	chr4	88243945	88243945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaacgactccaagtaggAgtagatgatggtgatcagaa	11	8	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:88243945A>G	ENST00000328546.4	-	1	113	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	17						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCCAAGTAGGAGTAGATGATG	0.468																																						ENST00000328546.4																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(49-51)Tcc>Ccc		hydroxysteroid (17-beta) dehydrogenase 13							79	73	75					4																	88243945		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88243945A>G		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.49T>C	4.37:g.88243945A>G	ENSP00000333300:p.Ser17Pro					HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P|RP11-529H2.2_ENST00000508163.1_RNA	p.S17P	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	1	113	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	17					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.49T>C	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553115	0.45487	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.90133	-2.62;-1.97	4.81	3.6	0.41247	.	0.194975	0.35436	N	0.003214	D	0.92473	0.7610	M	0.79258	2.445	0.33675	D	0.611372	P;P	0.48503	0.911;0.856	P;P	0.53102	0.718;0.526	D	0.93413	0.6770	10	0.37606	T	0.19	.	11.291	0.49250	0.8469:0.1531:0.0:0.0	.	17;17	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	P	17	ENSP00000305438:S17P;ENSP00000333300:S17P	ENSP00000305438:S17P	S	-	1	0	HSD17B13	88462969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.554000	0.53720	0.824000	0.34613	0.477000	0.44152	TCC		0.468	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		41	178	0	0	0	1	0	41	178					G	88243945	A	G	88243945	3	3	38	1	0	0	0	0	1	0	0	0	7412	304	11	4	881	4	HSD17B13	4	88243945	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	8451860	88243945	102910331	45	4519											
ANKRD50	57182	broad.mit.edu	37	chr4	125599951	125599952	+	Frame_Shift_Ins	INS	-	-	A													acagtcccagataagctggtINSagacgtttgttcaccttcag							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:125599951_125599952insA	ENST00000504087.1	-	3	1658_1659	c.621_622insT	c.(619-624)tctaccfs	p.T208fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.T29fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	208										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GATAAGCTGGTAGACGTTTGTT	0.475																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(619-624)tcccagfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125599951_125599952insA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.622dupT	4.37:g.125599952_125599952dupA	ENSP00000425658:p.Thr208fs					ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.Q29fs	p.Q208fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1658_1659	-			208					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.621_622insT	CCDS34060.1																																																																																				0.475	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		260	513						260	513	---	---	---	---	A	125599952	-	A	125599951	7	5	38	1	0	1	1	0	0	0	0	0	677	1638	57	0	3675	0	ANKRD50	4	125599951	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	37356006	125599951	65554325	46	4520											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	458						9	458	---	---	---	---	-	146077125	CAG	-	146077123	7	5	38	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-3A-A9J0-01A-11D-A40W-08	20477172	146077123	45077153	47	4521											
DCLK2	166614	broad.mit.edu	37	chr4	151160950	151160950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggagactttgggcttgcGactgtggtagaaggcccttt	15	8	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:151160950G>A	ENST00000296550.7	+	11	2377	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	DCLK2_ENST00000506325.1_Silent_p.A540A|DCLK2_ENST00000302176.8_Silent_p.A558A	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGGGCTTGCGACTGTGGTAG	0.458																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1621-1623)gcG>gcA		doublecortin-like kinase 2							138	137	138					4																	151160950		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151160950G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1623G>A	4.37:g.151160950G>A						DCLK2_ENST00000506325.1_Silent_p.A540A|DCLK2_ENST00000302176.8_Silent_p.A558A	p.A541A	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			11	2377	+	all_hematologic(180;0.151)		541			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.1623G>A	CCDS34076.1																																																																																				0.458	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		27	421	0	0	0	1	0	27	421					A	151160950	G	A	151160950	2	1	38	1	0	0	0	0	0	0	0	1	4303	1045	37	1		1	DCLK2	4	151160950	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	5083827	151160950	39993326	48	4522											
FAT1	2195	broad.mit.edu	37	chr4	187510158	187510158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgattgctgaattcgggcGgtaacggtggtagctcatca	13	8	2	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:187510158G>A	ENST00000441802.2	-	27	13564	c.13355C>T	c.(13354-13356)cCg>cTg	p.P4452L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4452					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATTCGGGCGGTAACGGTGG	0.537										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13354-13356)cCg>cTg		FAT atypical cadherin 1							232	236	235					4																	187510158		1951	4132	6083	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187510158G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13355C>T	4.37:g.187510158G>A	ENSP00000406229:p.Pro4452Leu	HNSCC(5;0.00058)					p.P4452L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13564	-			4452						Missense_Mutation	SNP	ENST00000441802.2	37	c.13355C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599106	0.13939	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.33865	1.39	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.53249	1.67	0.51767	D	0.999933	B	0.23540	0.087	B	0.17098	0.017	T	0.11324	-1.0592	10	0.40728	T	0.16	.	19.3098	0.94182	0.0:0.0:1.0:0.0	.	4452	Q14517	FAT1_HUMAN	L	4452;4454	ENSP00000406229:P4452L	ENSP00000260147:P4454L	P	-	2	0	FAT1	187747152	1.000000	0.71417	0.104000	0.21259	0.007000	0.05969	9.101000	0.94219	2.800000	0.96347	0.455000	0.32223	CCG		0.537	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	1127	0	0	0	1	0	7	1127					A	187510158	G	A	187510158	3	1	38	1	0	0	0	0	1	0	0	0	5714	1116	39	1	415	1	FAT1	4	187510158	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	36349208	187510158	3644118	49	4523											
MAP1B	4131	broad.mit.edu	37	chr5	71494871	71494871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttatgagaagaccaccCggacctcagatgtgggtggc	13	10	2	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71494871C>T	ENST00000296755.7	+	5	5987	c.5689C>T	c.(5689-5691)Cgg>Tgg	p.R1897W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1897					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAGACCACCCGGACCTCAGA	0.453																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5689-5691)Cgg>Tgg		microtubule-associated protein 1B							66	71	69					5																	71494871		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494871C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5689C>T	5.37:g.71494871C>T	ENSP00000296755:p.Arg1897Trp						p.R1897W	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5987	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1897					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5689C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	3.470	-0.108223	0.06924	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.52	3.67	0.42095	.	0.220565	0.30658	N	0.009152	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.56823	0.807;0.714	T	0.31696	-0.9934	10	0.87932	D	0	-2.6404	11.924	0.52808	0.4852:0.5148:0.0:0.0	.	1771;1897	A2BDK6;P46821	.;MAP1B_HUMAN	W	1897	ENSP00000296755:R1897W	ENSP00000296755:R1897W	R	+	1	2	MAP1B	71530627	0.001000	0.12720	0.011000	0.14972	0.113000	0.19764	0.695000	0.25527	0.645000	0.30675	0.551000	0.68910	CGG		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		180	119	0	0	0	1	0	180	119					T	71494871	C	T	71494871	3	4	38	1	0	0	0	0	1	0	0	0	9269	643	23	1	5707	1	MAP1B	5	71494871	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		71494871	109420389	50	4524											
MAP1B	4131	broad.mit.edu	37	chr5	71495084	71495084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagaccaccagcccccccGaagtgagtggttacagctat	9	13	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71495084G>A	ENST00000296755.7	+	5	6200	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1968					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCCCCCCGAAGTGAGTGG	0.478																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5902-5904)Gaa>Aaa		microtubule-associated protein 1B							70	75	73					5																	71495084		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495084G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5902G>A	5.37:g.71495084G>A	ENSP00000296755:p.Glu1968Lys						p.E1968K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6200	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1968					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5902G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840480	0.32513	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.11	5.11	0.69529	.	0.436414	0.21672	N	0.070842	T	0.04679	0.0127	N	0.08118	0	0.36942	D	0.892433	D;P	0.58268	0.982;0.512	P;B	0.50825	0.651;0.14	T	0.57791	-0.7750	10	0.49607	T	0.09	-6.4359	16.7322	0.85438	0.0:0.0:1.0:0.0	.	1842;1968	A2BDK6;P46821	.;MAP1B_HUMAN	K	1968	ENSP00000296755:E1968K	ENSP00000296755:E1968K	E	+	1	0	MAP1B	71530840	0.787000	0.28750	0.992000	0.48379	0.246000	0.25737	4.449000	0.60034	2.381000	0.81170	0.551000	0.68910	GAA		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		81	367	0	0	0	1	0	81	367					A	71495084	G	A	71495084	3	1	38	1	0	0	0	0	1	0	0	0	9269	1059	37	1	5920	1	MAP1B	5	71495084	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	213	71495084	109420176	51	4525											
ARSK	153642	broad.mit.edu	37	chr5	94922345	94922346	+	Frame_Shift_Ins	INS	-	-	A													gattattactcttcttatacINSaaaaaactgcactggaagat							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:94922345_94922346insA	ENST00000380009.4	+	5	984_985	c.779_780insA	c.(778-783)acaaaafs	p.TK260fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	260					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTATACAAAAAACTGCA	0.361																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(778-780)aaafs		arylsulfatase family, member K																																				SO:0001589	frameshift_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94922345_94922346insA		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.785dupA	5.37:g.94922351_94922351dupA	ENSP00000369346:p.Thr260fs						p.K260fs	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	5	984_985	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	260					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Ins	INS	ENST00000380009.4	37	c.779_780insA	CCDS4073.1																																																																																				0.361	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		126	253						126	253	---	---	---	---	A	94922346	-	A	94922345	7	5	38	1	0	1	1	0	0	0	0	0	997	478	17	0	797	0	ARSK	5	94922345	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	23427261	94922345	85992915	52	4526											
ADAMTS19	171019	broad.mit.edu	37	chr5	128863477	128863477	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacaagagtctgagtgtgCaggtcaatcttcgtgtgata	11	7	3	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:128863477C>T	ENST00000274487.4	+	5	1250	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	369	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTGAGTGTGCAGGTCAATCT	0.299																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1105-1107)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 19							92	97	96					5																	128863477		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863477C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1105C>T	5.37:g.128863477C>T	ENSP00000274487:p.Gln369*					CTC-575N7.1_ENST00000503616.1_RNA	p.Q369*	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1250	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	369			Peptidase M12B.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.1105C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444548	0.96187	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.41	4.41	0.53225	.	0.085473	0.47455	D	0.000231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.326	0.90254	0.0:1.0:0.0:0.0	.	.	.	.	X	369	.	.	Q	+	1	0	ADAMTS19	128891376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.856000	0.48341	2.737000	0.93849	0.563000	0.77884	CAG		0.299	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		275	219	0	0	0	1	0	275	219					T	128863477	C	T	128863477	4	4	38	1	0	0	0	0	0	1	0	0	264	711	25	2	1123	2	ADAMTS19	5	128863477	Nonsense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	33941132	128863477	52051783	53	4527											
PCDHB7	56129	broad.mit.edu	37	chr5	140552501	140552501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgtcttgggctggcgccGaaccgcttcggtattttgtg	14	9	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:140552501G>A	ENST00000231137.3	+	1	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	29					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(85-87)Gaa>Aaa									166	147	153					5																	140552501		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552501G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.85G>A	5.37:g.140552501G>A	ENSP00000231137:p.Glu29Lys						p.E29K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	259	+			29					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.85G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918636	0.33908	.	.	ENSG00000113212	ENST00000231137	T	0.48836	0.8	4.78	4.78	0.61160	.	.	.	.	.	T	0.57533	0.2060	M	0.88377	2.95	0.22017	N	0.999413	B	0.25312	0.123	B	0.21708	0.036	T	0.54029	-0.8354	9	0.40728	T	0.16	.	16.7421	0.85462	0.0:0.0:1.0:0.0	.	29	Q9Y5E2	PCDB7_HUMAN	K	29	ENSP00000231137:E29K	ENSP00000231137:E29K	E	+	1	0	PCDHB7	140532685	0.877000	0.30153	0.510000	0.27712	0.294000	0.27393	5.150000	0.64869	2.353000	0.79882	0.650000	0.86243	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		81	326	0	0	0	1	0	81	326					A	140552501	G	A	140552501	3	1	38	1	0	0	0	0	1	0	0	0	11589	1059	37	1	87	1	PCDHB7	5	140552501	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	11689024	140552501	40362759	54	4528											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	1126						7	1126	---	---	---	---	-	27420810	T	-	27420810	7	5	38	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-3A-A9J0-01A-11D-A40W-08		27420810	143694257	55	4529											
OR2J2	26707	broad.mit.edu	37	chr6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-													gaaaaagatgaatgatgattAaaaaaaatgcaagttcggaa					rs556940268|rs201438710	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aaafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													AAAAAAAA|AAAAAAAA|AAAAAAA|deletion	21	0.00419329	0.0144	0.0014	5008	,	,		19015	0.0		0.001	False		,,,				2504	0.0					ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(10-12)aafs		olfactory receptor, family 2, subfamily J, member 2							105	102	103					6																	29141422		1836	4079	5915	SO:0001589	frameshift_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141422delA		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.10delA	6.37:g.29141422delA	ENSP00000366372:p.Lys5fs						p.K5fs	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	112	+			5					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Frame_Shift_Del	DEL	ENST00000377167.2	37	c.10delA	CCDS43434.1																																																																																				0.358	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			8	520						8	520	---	---	---	---	-	29141422	A	-	29141422	7	5	38	1	0	1	0	1	0	0	0	0	11045	363	13	0	12	0	OR2J2	6	29141422	Frame_Shift_Del	DEL	A	TCGA-3A-A9J0-01A-11D-A40W-08	1720612	29141422	141973645	56	4530											
MUC21	394263	broad.mit.edu	37	chr6	30955236	30955236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctgagtccagcacaacCtccagtggggccaacacagc	9	14	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:30955236C>T	ENST00000376296.3	+	2	1525	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	428	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGCACAACCTCCAGTGGGG	0.597																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1282-1284)acC>acT		mucin 21, cell surface associated							133	128	130					6																	30955236		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30955236C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1284C>T	6.37:g.30955236C>T						MUC21_ENST00000486149.2_5'UTR	p.T428T	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1525	+			428			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1284C>T	CCDS34388.1																																																																																				0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		90	536	0	0	0	1	0	90	536					T	30955236	C	T	30955236	2	4	38	1	0	0	0	0	0	0	0	1	10018	668	24	2		2	MUC21	6	30955236	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1813814	30955236	140159831	57	4531											
C6orf15	29113	broad.mit.edu	37	chr6	31079317	31079317	+	Frame_Shift_Del	DEL	C	C	-													cctggataccgattaatattCccccagctgcctcctggata					rs112157845	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:31079317delC	ENST00000259870.3	-	2	822	c.819delG	c.(817-819)gggfs	p.G273fs		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	273	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GATTAATATTCCCCCAGCTGC	0.498																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(817-819)ggfs		chromosome 6 open reading frame 15							67	77	74					6																	31079317		1745	3412	5157	SO:0001589	frameshift_variant	29113							g.chr6:31079317delC	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.819delG	6.37:g.31079317delC	ENSP00000259870:p.Gly273fs						p.G273fs	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	822	-			273			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Frame_Shift_Del	DEL	ENST00000259870.3	37	c.819delG	CCDS4693.1																																																																																				0.498	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		7	726						7	726	---	---	---	---	-	31079317	C	-	31079317	7	5	38	1	0	1	0	1	0	0	0	0	2343	842	30	0	162	0	C6orf15	6	31079317	Frame_Shift_Del	DEL	C	TCGA-3A-A9J0-01A-11D-A40W-08	124081	31079317	140035750	58	4532											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	691						8	691	---	---	---	---	T	31975224	-	T	31975223	6	5	38	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	895906	31975223	139139844	59	4533											
TNXB	7148	broad.mit.edu	37	chr6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtggcacaggtagggcCggtgtagcctgggtcgcaca	19	10	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:32063700C>T	ENST00000479795.1	-	3	2070	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375244.3_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1930-1932)Ggc>Agc		tenascin XB							16	18	17					6																	32063700		2119	4216	6335	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063700C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1930G>A	6.37:g.32063700C>T	ENSP00000418248:p.Gly644Ser					TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S	p.G644S			P22105	TENX_HUMAN			3	2131	-			644			EGF-like 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1930G>A		.	.	.	.	.	.	.	.	.	.	C	14.90	2.673033	0.47781	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.85013	1.81;1.81;-1.93	4.25	4.25	0.50352	.	0.000000	0.43416	D	0.000580	D	0.92773	0.7702	M	0.91561	3.22	0.40214	D	0.977668	D	0.89917	1.0	D	0.97110	1.0	D	0.93982	0.7259	10	0.59425	D	0.04	.	15.6045	0.76652	0.0:1.0:0.0:0.0	.	644	P22105-3	.	S	644	ENSP00000364393:G644S;ENSP00000364396:G644S;ENSP00000418248:G644S	ENSP00000364393:G644S	G	-	1	0	TNXB	32171678	.	.	0.189000	0.23252	0.058000	0.15608	.	.	2.198000	0.70561	0.563000	0.77884	GGC		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		21	79	0	0	0	1	0	21	79					T	32063700	C	T	32063700	3	4	38	1	0	0	0	0	1	0	0	0	16398	652	23	1	12951	1	TNXB	6	32063700	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	88477	32063700	139051367	60	4534											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	667						8	667	---	---	---	---	-	33411203	CAC	-	33411201	7	5	38	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-3A-A9J0-01A-11D-A40W-08	1347501	33411201	137703866	61	4535											
PRSS35	167681	broad.mit.edu	37	chr6	84233890	84233890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggggtcagaggattgccGaagggaggccttcctttcag	16	10	2	1	rs541411659		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:84233890G>A	ENST00000369700.3	+	2	907	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PRSS35_ENST00000536636.1_Missense_Mutation_p.E244K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	244	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGATTGCCGAAGGGAGGCC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.0					ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(730-732)Gaa>Aaa		protease, serine, 35							52	61	58					6																	84233890		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233890G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.730G>A	6.37:g.84233890G>A	ENSP00000358714:p.Glu244Lys					PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K	p.E244K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1075	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	244			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.730G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281627	0.23392	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.43294	0.95;0.95	5.65	4.76	0.60689	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.988869	0.08242	N	0.975900	T	0.09512	0.0234	N	0.04508	-0.205	0.28907	N	0.892957	B	0.28801	0.223	B	0.16722	0.016	T	0.22312	-1.0220	10	0.17832	T	0.49	-10.6501	16.2336	0.82360	0.0:0.1375:0.8625:0.0	.	244	Q8N3Z0	PRS35_HUMAN	K	244	ENSP00000440870:E244K;ENSP00000358714:E244K	ENSP00000358714:E244K	E	+	1	0	PRSS35	84290609	0.017000	0.18338	0.008000	0.14137	0.110000	0.19582	1.679000	0.37597	1.349000	0.45751	0.462000	0.41574	GAA		0.567	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		35	150	0	0	0	1	0	35	150					A	84233890	G	A	84233890	3	1	38	1	0	0	0	0	1	0	0	0	12671	1059	37	1	732	1	PRSS35	6	84233890	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	50822689	84233890	86881177	62	4536											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T													caagaaagcaaaagcctctgINSttttttttcttgtcatccgg							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	679						8	679	---	---	---	---	T	86332354	-	T	86332353	7	5	38	1	0	1	1	0	0	0	0	0	15496	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	2098463	86332353	84782714	63	4537											
EPHA7	2045	broad.mit.edu	37	chr6	93956606	93956606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattttggcctttcagcaCgctccttttgccaacaatcc	5	14	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:93956606C>T	ENST00000369303.4	-	15	2814	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R877L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423																																						ENST00000369303.4																			1	Substitution - Missense(1)	p.R877L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2629-2631)cGt>cAt		EPH receptor A7							114	110	111					6																	93956606		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956606C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2630G>A	6.37:g.93956606C>T	ENSP00000358309:p.Arg877His						p.R877H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2814	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	877			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2630G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526893	0.96431	.	.	ENSG00000135333	ENST00000369303	T	0.62364	0.03	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70716	0.97;0.942;0.966	T	0.69213	-0.5204	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	873;872;877	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	877	ENSP00000358309:R877H	ENSP00000358309:R877H	R	-	2	0	EPHA7	94013327	1.000000	0.71417	0.870000	0.34147	0.995000	0.86356	7.726000	0.84824	2.723000	0.93209	0.591000	0.81541	CGT		0.423	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			114	241	0	0	0	1	0	114	241					T	93956606	C	T	93956606	3	4	38	1	0	0	0	0	1	0	0	0	5190	536	19	1	378	1	EPHA7	6	93956606	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	7624253	93956606	77158461	64	4538											
LAMA4	3910	broad.mit.edu	37	chr6	112496518	112496518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggaatacacctacgttCgtaagcctcatctgcctcct	8	13	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:112496518C>T	ENST00000230538.7	-	11	1751	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	452	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACCTACGTTCGTAAGCCTCA	0.483																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1354-1356)Gaa>Aaa		laminin, alpha 4							139	124	129					6																	112496518		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496518C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1354G>A	6.37:g.112496518C>T	ENSP00000230538:p.Glu452Lys					LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K	p.E452K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1751	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	452			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1354G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694350	0.48202	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.91	5.91	0.95273	Laminin I (1);	0.213635	0.48767	D	0.000165	T	0.12433	0.0302	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.58391	0.838;0.749	T	0.10683	-1.0619	10	0.11182	T	0.66	.	18.0694	0.89400	0.0:1.0:0.0:0.0	.	452;445	Q16363;Q16363-2	LAMA4_HUMAN;.	K	452;445;445;445	ENSP00000230538:E452K;ENSP00000429488:E445K;ENSP00000374114:E445K;ENSP00000416470:E445K	ENSP00000230538:E452K	E	-	1	0	LAMA4	112603211	0.981000	0.34729	0.343000	0.25615	0.031000	0.12232	2.957000	0.49137	2.813000	0.96785	0.655000	0.94253	GAA		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		161	232	0	0	0	1	0	161	232					T	112496518	C	T	112496518	3	4	38	1	0	0	0	0	1	0	0	0	8639	893	31	1	4233	1	LAMA4	6	112496518	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	18539912	112496518	58618549	65	4539											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		10	918						10	918	---	---	---	---	T	129959603	-	T	129959602	7	5	38	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	17463084	129959602	41155465	66	4540											
IFNGR1	3459	broad.mit.edu	37	chr6	137524778	137524778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgctaactggcactgaatCtcgtcacaatcatcttcctt	5	13	4	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:137524778C>A	ENST00000367739.4	-	5	712	c.591G>T	c.(589-591)gaG>gaT	p.E197D	IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	197					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGCACTGAATCTCGTCACAAT	0.378																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(589-591)gaG>gaT		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						109	93	98					6																	137524778		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137524778C>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.591G>T	6.37:g.137524778C>A	ENSP00000356713:p.Glu197Asp					IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR	p.E197D	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	5	712	-	Colorectal(23;0.24)		197					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.591G>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866633	0.32977	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076	T;T;T	0.45276	0.9;0.9;0.9	5.34	-3.11	0.05299	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.212273	0.23342	N	0.049224	T	0.13628	0.0330	M	0.71581	2.175	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.14578	0.007;0.011	T	0.18713	-1.0328	10	0.30078	T	0.28	-11.59	2.1319	0.03752	0.1234:0.2775:0.3634:0.2358	.	169;197	F5H5M7;P15260	.;INGR1_HUMAN	D	197;197;169;163	ENSP00000356713:E197D;ENSP00000443282:E169D;ENSP00000389249:E163D	ENSP00000356713:E197D	E	-	3	2	IFNGR1	137566471	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.316000	0.02710	-0.289000	0.09038	-0.305000	0.09177	GAG		0.378	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			86	172	1	0	6.07207e-39	1	6.70022e-39	86	172					A	137524778	C	A	137524778	3	1	38	1	0	0	0	0	1	0	0	0	7579	912	32	3	890	3	IFNGR1	6	137524778	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	7565176	137524778	33590289	67	4541											
LPA	4018	broad.mit.edu	37	chr6	161006101	161006101	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggatagtataatgggatCctccgatgccaatgtggtgt	12	6	0	0	rs372776354		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:161006101C>T	ENST00000316300.5	-	26	4310	c.4266G>A	c.(4264-4266)agG>agA	p.R1422R	LPA_ENST00000447678.1_Silent_p.R1422R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1422S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAATGGGATCCTCCGATGCC	0.443																																						ENST00000447678.1																			1	Substitution - Missense(1)	p.R1422S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4264-4266)agG>agA		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						210	207	208					6																	161006101		2166	4293	6459	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006101C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4266G>A	6.37:g.161006101C>T						LPA_ENST00000316300.5_Silent_p.R1422R	p.R1422R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	27	4386	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3930			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4266G>A	CCDS43523.1																																																																																				0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		288	547	0	0	0	1	0	288	547					T	161006101	C	T	161006101	2	4	38	1	0	0	0	0	0	0	0	1	8941	854	30	2		2	LPA	6	161006101	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	23481323	161006101	10108966	68	4542											
GLI3	2737	broad.mit.edu	37	chr7	42018305	42018305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtccagccacctgcacaCgaactccttcttctctccat	5	18	2	0	rs148502119		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:42018305C>T	ENST00000395925.3	-	11	1624	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	514					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCTGCACACGAACTCCTTC	0.443									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1540-1542)Gtg>Atg		GLI family zinc finger 3		C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	98	93	95		1540	5.8	1	7	dbSNP_134	95	0,8600		0,0,4300	yes	missense	GLI3	NM_000168.5	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	514/1581	42018305	2,13004	2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018305C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1540G>A	7.37:g.42018305C>T	ENSP00000379258:p.Val514Met					GLI3_ENST00000479210.1_5'UTR	p.V514M	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			11	1624	-			514					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1540G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177605	0.94846	4.54E-4	0.0	ENSG00000106571	ENST00000395925	D	0.93811	-3.29	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	D	0.97919	1.0313	10	0.87932	D	0	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	514	P10071	GLI3_HUMAN	M	514	ENSP00000379258:V514M	ENSP00000379258:V514M	V	-	1	0	GLI3	41984830	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	7.770000	0.85390	2.763000	0.94921	0.650000	0.86243	GTG		0.443	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		125	276	0	0	0	1	0	125	276					T	42018305	C	T	42018305	3	4	38	1	0	0	0	0	1	0	0	0	6468	536	19	1	3222	1	GLI3	7	42018305	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		42018305	117120358	69	4543											
ADCY1	107	broad.mit.edu	37	chr7	45699701	45699701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggactacgaggtagaaccGggttacggacatgagaggaa	17	6	0	2	rs149589767		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:45699701G>A	ENST00000297323.7	+	7	1390	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P	ADCY1_ENST00000432715.1_Silent_p.P231P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	456			P -> L (in dbSNP:rs12721473).		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTAGAACCGGGTTACGGAC	0.507																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1366-1368)ccG>ccA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	A		1,4405	2.1+/-5.4	0,1,2202	169	151	157		1368	-11	0	7	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	ADCY1	NM_021116.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		456/1120	45699701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45699701G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1368G>A	7.37:g.45699701G>A						ADCY1_ENST00000432715.1_Silent_p.P231P	p.P456P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			7	1390	+			456		P -> L (in dbSNP:rs12721473).			A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1368G>A	CCDS34631.1																																																																																				0.507	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		138	284	0	0	0	1	0	138	284					A	45699701	G	A	45699701	2	1	38	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45699701	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	3681396	45699701	113438962	70	4544											
WBSCR17	64409	broad.mit.edu	37	chr7	71142270	71142270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagcaatattgtatccGtgccatggctggggaccaca	10	12	0	0	rs145007893		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:71142270G>A	ENST00000333538.5	+	9	2113	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTGTATCCGTGCCATGGCT	0.537																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1477-1479)ccG>ccA		Williams-Beuren syndrome chromosome region 17		G		1,4405	2.1+/-5.4	0,1,2202	181	180	180		1479	-7.2	0.8	7	dbSNP_134	180	0,8600		0,0,4300	no	coding-synonymous	WBSCR17	NM_022479.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		493/599	71142270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142270G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1479G>A	7.37:g.71142270G>A						WBSCR17_ENST00000498380.2_3'UTR	p.P493P	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			9	2113	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	493			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1479G>A	CCDS5540.1																																																																																				0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		23	951	0	0	0	1	0	23	951					A	71142270	G	A	71142270	2	1	38	1	0	0	0	0	0	0	0	1	17318	1132	40	1		1	WBSCR17	7	71142270	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	25442569	71142270	87996393	71	4545											
OR2A14	135941	broad.mit.edu	37	chr7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctatgatcgctatgCggacatctgccaccccttac	8	14	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:143826573C>T	ENST00000408899.2	+	1	423	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(367-369)gCg>gTg		olfactory receptor, family 2, subfamily A, member 14							224	221	222					7																	143826573		2151	4253	6404	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826573C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.368C>T	7.37:g.143826573C>T	ENSP00000386137:p.Ala123Val						p.A123V	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	423	+	Melanoma(164;0.0783)		123					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.368C>T	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.806132	0.00606	.	.	ENSG00000221938	ENST00000408899	T	0.00402	7.56	4.18	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.677608	0.11236	N	0.585087	T	0.00073	0.0002	N	0.00121	-2.07	0.22684	N	0.998858	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	10	0.02654	T	1	-8.6728	8.1672	0.31233	0.0:0.099:0.0:0.901	.	123	Q96R47	O2A14_HUMAN	V	123	ENSP00000386137:A123V	ENSP00000386137:A123V	A	+	2	0	OR2A14	143457506	0.128000	0.22383	0.910000	0.35882	0.018000	0.09664	2.090000	0.41682	0.732000	0.32470	-0.415000	0.06103	GCG		0.493	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			7	728	0	0	0	1	0	7	728					T	143826573	C	T	143826573	3	4	38	1	0	0	0	0	1	0	0	0	11018	768	27	1	370	1	OR2A14	7	143826573	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	72684303	143826573	15312090	72	4546											
NUB1	51667	broad.mit.edu	37	chr7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgattccaatcctgaaaccGacaaccgtcaagaaagtcct	6	12	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:151072988G>A	ENST00000355851.4	+	13	1527	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	NUB1_ENST00000566856.1_Missense_Mutation_p.D470N|WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000568733.1_Missense_Mutation_p.D508N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1522-1524)Gac>Aac		negative regulator of ubiquitin-like proteins 1							221	219	220					7																	151072988		1963	4143	6106	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151072988G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1450G>A	7.37:g.151072988G>A	ENSP00000348110:p.Asp484Asn					NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N	p.D508N			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	13	1588	+			484			UBA 3.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1522G>A		.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671641	0.00758	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.42513	0.97	5.29	1.42	0.22433	UBA-like (1);	0.997169	0.08136	N	0.992432	T	0.13329	0.0323	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-13.5194	3.5859	0.07970	0.6533:0.1362:0.0787:0.1318	.	484;470	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	N	470;484	ENSP00000348110:D484N	ENSP00000348110:D484N	D	+	1	0	NUB1	150703921	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	1.025000	0.30090	0.109000	0.17891	-1.421000	0.01109	GAC		0.493	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		6	751	0	0	0	1	0	6	751					A	151072988	G	A	151072988	3	1	38	1	0	0	0	0	1	0	0	0	10756	1058	37	1	1454	1	NUB1	7	151072988	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7246415	151072988	8065675	73	4547											
LMBR1	64327	broad.mit.edu	37	chr7	156520649	156520649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttggcattgctgttTcatcaaccaataggcaaaga	7	9	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:156520649T>C	ENST00000353442.5	-	12	1204	c.968A>G	c.(967-969)gAa>gGa	p.E323G	LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G|LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	323					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATTGCTGTTTCATCAACCAA	0.363																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(967-969)gAa>gGa		limb development membrane protein 1							76	68	71					7																	156520649		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156520649T>C	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.968A>G	7.37:g.156520649T>C	ENSP00000326604:p.Glu323Gly					LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G|LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000461603.1_5'UTR	p.E323G	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	12	1204	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	323					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.968A>G	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793587	0.70452	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.66	4.66	0.58398	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.31752	0.955	0.80722	D	1	D;B;D	0.89917	0.999;0.084;1.0	D;B;D	0.83275	0.995;0.042;0.996	T	0.11275	-1.0594	10	0.18276	T	0.48	-11.8648	13.7733	0.63038	0.0:0.0:0.0:1.0	.	302;364;323	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	G	323;171;362;364;302	ENSP00000326604:E323G;ENSP00000352392:E171G;ENSP00000408256:E362G;ENSP00000346500:E364G;ENSP00000445509:E302G	ENSP00000326604:E323G	E	-	2	0	LMBR1	156213410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.084000	0.76866	1.750000	0.51863	0.383000	0.25322	GAA		0.363	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		7	294	0	0	0	1	0	7	294					C	156520649	T	C	156520649	3	2	38	1	0	0	0	0	1	0	0	0	8873	1783	62	4	528	4	LMBR1	7	156520649	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	5447661	156520649	2618014	74	4548											
LZTS1	11178	broad.mit.edu	37	chr8	20107374	20107374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgctggtacatggccacGtagctctgctgcagctgttt	11	12	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr8:20107374G>A	ENST00000381569.1	-	4	2007	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	550					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGCCACGTAGCTCTGCT	0.627																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1648-1650)taC>taT		leucine zipper, putative tumor suppressor 1							117	117	117					8																	20107374		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107374G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1650C>T	8.37:g.20107374G>A						LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y	p.Y550Y			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	2007	-			550					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.1650C>T	CCDS6015.1																																																																																				0.627	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		102	343	0	0	0	1	0	102	343					A	20107374	G	A	20107374	2	1	38	1	0	0	0	0	0	0	0	1	9177	1140	40	1		1	LZTS1	8	20107374	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		20107374	126256648	75	4549											
TEK	7010	broad.mit.edu	37	chr9	27158047	27158047	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaagttgtttggaagagaGaaaaggctagtaagatcaat	11	2	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:27158047G>T	ENST00000380036.4	+	2	713	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	91	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTGGAAGAGAGAAAAGGCTAG	0.448																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(271-273)Gaa>Taa		TEK tyrosine kinase, endothelial							119	115	116					9																	27158047		2203	4300	6503	SO:0001587	stop_gained	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27158047G>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.271G>T	9.37:g.27158047G>T	ENSP00000369375:p.Glu91*					TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*	p.E91*	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	713	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	91			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	c.271G>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	38	7.144543	0.98092	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	.	.	.	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000343716:E91X	E	+	1	0	TEK	27148047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.664000	0.74437	2.809000	0.96659	0.655000	0.94253	GAA		0.448	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			61	188	1	0	7.91745e-34	1	8.68657e-34	61	188					T	27158047	G	T	27158047	4	4	38	1	0	0	0	0	0	1	0	0	15803	943	33	3	277	3	TEK	9	27158047	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		27158047	114055384	76	4550											
TMEM2	23670	broad.mit.edu	37	chr9	74300311	74300312	+	Splice_Site	INS	-	-	A													ccaaaaatatggtactccctINSaaaaaaaaaaaaaaaaaaga					rs36080695|rs72019397		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:74300311_74300312insA	ENST00000377044.4	-	24	4495		c.e24-2		TMEM2_ENST00000396272.3_Splice_Site|TMEM2_ENST00000377066.5_Splice_Site	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGGTACTCCCTaaaaaaaaaaa	0.371																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.e24-2		transmembrane protein 2																																				SO:0001630	splice_region_variant	23670					integral to membrane		g.chr9:74300311_74300312insA		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3956-2->T	9.37:g.74300322_74300322dupA						TMEM2_ENST00000377066.5_Splice_Site|TMEM2_ENST00000396272.3_Splice_Site		NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	24	4495	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)						A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Splice_Site	INS	ENST00000377044.4	37		CCDS6638.1																																																																																				0.371	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	Intron	30	91						30	91	---	---	---	---	A	74300312	-	A	74300311	8	5	38	1	0	1	1	0	0	0	1	0	16173	1536	53	0	201	0	TMEM2	9	74300311	Splice_Site	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	47142264	74300311	66913120	77	4551											
TRPM6	140803	broad.mit.edu	37	chr9	77376995	77376995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgaagggcctgtatctgCggagaggattgatccaaaag	14	7	1	2	rs199963114		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:77376995C>T	ENST00000360774.1	-	26	4829	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1531H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGTATCTGCGGAGAGGATT	0.418																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4591-4593)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							93	92	92					9																	77376995		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376995C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4592G>A	9.37:g.77376995C>T	ENSP00000354006:p.Arg1531His					TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H	p.R1531H			Q9BX84	TRPM6_HUMAN			26	4829	-			1531					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4592G>A	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.535|1.535	-0.543353|-0.543353	0.04053|0.04053	.|.	.|.	ENSG00000119121|ENSG00000119121	ENST00000448641|ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449	.|T;T;T;T;T	.|0.54279	.|0.68;0.68;0.68;0.68;0.58	5.33|5.33	-5.55|-5.55	0.02536|0.02536	.|.	.|1.118960	.|0.06509	.|N	.|0.737619	.|T	.|0.28599	.|0.0708	N|N	0.05383|0.05383	-0.06|-0.06	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.002;0.003;0.003	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	.|T	.|0.27226	.|-1.0080	.|10	.|0.54805	.|T	.|0.06	.|.	7.9227|7.9227	0.29857|0.29857	0.1046:0.3691:0.0:0.5263|0.1046:0.3691:0.0:0.5263	.|.	.|1531;1526;1526	.|Q9BX84;Q9BX84-3;Q9BX84-2	.|TRPM6_HUMAN;.;.	.|H	-1|1531;1531;1526;1526;1531;1104	.|ENSP00000354006:R1531H;ENSP00000407341:R1531H;ENSP00000396672:R1526H;ENSP00000354962:R1526H;ENSP00000366060:R1531H	.|ENSP00000309693:R1104H	.|R	-|-	.|2	.|0	TRPM6|TRPM6	76566815|76566815	0.085000|0.085000	0.21516|0.21516	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.050000|-0.050000	0.11904|0.11904	-1.668000|-1.668000	0.01471|0.01471	-0.290000|-0.290000	0.09829|0.09829	.|CGC		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		55	212	0	0	0	1	0	55	212					T	77376995	C	T	77376995	3	4	38	1	0	0	0	0	1	0	0	0	16643	768	27	1	1532	1	TRPM6	9	77376995	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3076684	77376995	63836436	78	4552											
C9orf89	84270	broad.mit.edu	37	chr9	95869990	95869990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcctggtgcaggacacGcctttcctgacaggccatgg	13	14	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562																																						ENST00000375464.2																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(40-42)acG>acA		chromosome 9 open reading frame 89							96	71	80					9																	95869990		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95869990G>A	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.42G>A	9.37:g.95869990G>A							p.T14T	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN			2	170	+			14			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.42G>A	CCDS6702.2																																																																																				0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		50	65	0	0	0	1	0	50	65					A	95869990	G	A	95869990	2	1	38	1	0	0	0	0	0	0	0	1	2510	1074	38	1		1	C9orf89	9	95869990	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	18492995	95869990	45343441	79	4553											
IL2RA	3559	broad.mit.edu	37	chr10	6063598	6063598	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaccatctgccccaccacGaaatgataaattctctctgt	4	13	3	1	rs373429536		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.F142F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512																																						ENST00000379959.3																			2	Substitution - coding silent(2)	p.F142F(2)	large_intestine(1)|lung(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(424-426)ttC>ttT		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						153	134	140					10																	6063598		2203	4300	6503	SO:0001819	synonymous_variant	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063598G>A	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.426C>T	10.37:g.6063598G>A						IL2RA_ENST00000256876.6_Silent_p.F142F|IL2RA_ENST00000379954.1_Intron	p.F142F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN			4	599	-			142			Sushi 2.		Q5W007	Silent	SNP	ENST00000379959.3	37	c.426C>T	CCDS7076.1																																																																																				0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		85	299	0	0	0	1	0	85	299					A	6063598	G	A	6063598	2	1	38	1	0	0	0	0	0	0	0	1	7716	1049	37	1		1	IL2RA	10	6063598	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		6063598	129471149	80	4554											
ARHGAP21	57584	broad.mit.edu	37	chr10	24959236	24959236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgttcttttcaacgTaactgttttgggacctggcc	10	8	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:24959236T>G	ENST00000396432.2	-	3	640	c.154A>C	c.(154-156)Acg>Ccg	p.T52P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	51	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTTTCAACGTAACTGTTTTG	0.343																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(154-156)Acg>Ccg		Rho GTPase activating protein 21							135	120	125					10																	24959236		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24959236T>G	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.154A>C	10.37:g.24959236T>G	ENSP00000379709:p.Thr52Pro						p.T52P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			3	640	-			51			PDZ.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.154A>C	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375711	0.24857	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.19	-0.861	0.10676	PDZ/DHR/GLGF (2);	0.700803	0.15367	N	0.266050	T	0.19046	0.0457	M	0.63843	1.955	0.09310	N	1	B;B;B	0.15719	0.014;0.011;0.002	B;B;B	0.28638	0.077;0.092;0.039	T	0.29792	-1.0000	10	0.52906	T	0.07	.	3.228	0.06739	0.1417:0.131:0.5257:0.2015	.	52;51;51	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	P	52;51;52;52;41	ENSP00000379709:T52P;ENSP00000365592:T52P;ENSP00000405018:T52P;ENSP00000400566:T41P	ENSP00000365592:T52P	T	-	1	0	ARHGAP21	24999242	0.001000	0.12720	0.006000	0.13384	0.925000	0.55904	0.156000	0.16382	-0.015000	0.14150	-0.321000	0.08615	ACG		0.343	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		20	321	0	0	0	1	0	20	321					G	24959236	T	G	24959236	3	3	38	1	0	0	0	0	1	0	0	0	871	1638	57	4	5818	4	ARHGAP21	10	24959236	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	18895638	24959236	110575511	81	4555											
KIF20B	9585	broad.mit.edu	37	chr10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-													gaaacatttacttcaattaaAagaagaagaagaagaaacca					rs149688226	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del|KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				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)			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						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				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						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	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.chr10:91498335_91498337delAAG	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.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		7	292						7	292	---	---	---	---	-	91498337	AAG	-	91498335	7	5	38	1	0	1	0	1	0	0	0	0	8317	14	1	0	3691	0	KIF20B	10	91498335	In_Frame_Del	DEL	AAG	TCGA-3A-A9J0-01A-11D-A40W-08	66539099	91498335	44036412	82	4556											
CPXM2	119587	broad.mit.edu	37	chr10	125557591	125557591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgggccaccatggggaCgggtagctcattgagaacag	16	9	1	1	rs199927775		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:125557591C>T	ENST00000241305.3	-	6	944	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	264	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCATGGGGACGGGTAGCTCA	0.483																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(790-792)Gtc>Atc		carboxypeptidase X (M14 family), member 2							130	110	117					10																	125557591		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125557591C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.790G>A	10.37:g.125557591C>T	ENSP00000241305:p.Val264Ile					CPXM2_ENST00000368854.3_5'UTR	p.V264I	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	6	944	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	264			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.790G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526842	0.13066	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.98164	-4.76	4.46	4.46	0.54185	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.450854	0.23631	N	0.046134	D	0.95850	0.8649	L	0.45051	1.395	0.25694	N	0.985655	P	0.41420	0.749	B	0.36534	0.227	D	0.90460	0.4445	10	0.23891	T	0.37	-14.947	17.3109	0.87210	0.0:1.0:0.0:0.0	.	264	Q8N436	CPXM2_HUMAN	I	264;97;264	ENSP00000241305:V264I	ENSP00000241305:V264I	V	-	1	0	CPXM2	125547581	0.000000	0.05858	0.972000	0.41901	0.126000	0.20510	0.687000	0.25407	2.292000	0.77174	0.557000	0.71058	GTC		0.483	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		19	238	0	0	0	1	0	19	238					T	125557591	C	T	125557591	3	4	38	1	0	0	0	0	1	0	0	0	3847	536	19	1	1516	1	CPXM2	10	125557591	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	34059256	125557591	9977156	83	4557											
FAR1	84188	broad.mit.edu	37	chr11	13749183	13749183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaactaagaagtacgtattGaatgaagaaatgtctggcct	11	5	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:13749183G>T	ENST00000354817.3	+	11	1482	c.1338G>T	c.(1336-1338)ttG>ttT	p.L446F	FAR1_ENST00000532502.1_Missense_Mutation_p.L70F	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	446					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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGTACGTATTGAATGAAGAAA	0.373																																						ENST00000532502.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(208-210)ttG>ttT		fatty acyl CoA reductase 1							122	122	122					11																	13749183		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13749183G>T	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.1338G>T	11.37:g.13749183G>T	ENSP00000346874:p.Leu446Phe					FAR1_ENST00000354817.3_Missense_Mutation_p.L446F	p.L70F			Q8WVX9	FACR1_HUMAN			2	2038	+			446					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.210G>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979207	0.53827	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.28454	1.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.55834	1.745	0.51482	D	0.999929	D	0.89917	1.0	D	0.83275	0.996	T	0.23797	-1.0178	10	0.30078	T	0.28	-8.0128	16.1581	0.81680	0.0:0.1335:0.8665:0.0	.	446	Q8WVX9	FACR1_HUMAN	F	446;70	ENSP00000346874:L446F	ENSP00000346874:L446F	L	+	3	2	FAR1	13705759	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.970000	0.40520	2.783000	0.95769	0.655000	0.94253	TTG		0.373	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		57	287	1	0	1.4709e-25	1	1.60462e-25	57	287					T	13749183	G	T	13749183	3	4	38	1	0	0	0	0	1	0	0	0	5699	1281	45	3	1376	3	FAR1	11	13749183	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		13749183	121257333	84	4558											
UVRAG	7405	broad.mit.edu	37	chr11	75851957	75851957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccagcctgtgaccaccGtcccctccatgggagagacc	10	17	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:75851957G>A	ENST00000356136.3	+	15	1841	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I|UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	534					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTGACCACCGTCCCCTCCAT	0.493																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1600-1602)Gtc>Atc		UV radiation resistance associated							83	78	80					11																	75851957		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851957G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1600G>A	11.37:g.75851957G>A	ENSP00000348455:p.Val534Ile					UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I	p.V534I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	1841	+			534					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1600G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	0.634	-0.816014	0.02776	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.44881	0.91	5.3	-10.6	0.00265	.	1.580430	0.03003	N	0.148498	T	0.18299	0.0439	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22382	-1.0218	10	0.12766	T	0.61	1.0426	15.3224	0.74132	0.2482:0.0:0.6594:0.0925	.	90;534	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	I	534;433;162;162;162;162;90	ENSP00000348455:V534I	ENSP00000348455:V534I	V	+	1	0	UVRAG	75529605	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.434000	0.06939	-2.212000	0.00736	-0.768000	0.03414	GTC		0.493	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		55	223	0	0	0	1	0	55	223					A	75851957	G	A	75851957	3	1	38	1	0	0	0	0	1	0	0	0	17162	1145	40	1	1658	1	UVRAG	11	75851957	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	62102774	75851957	59154559	85	4559											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		9	481						9	481	---	---	---	---	-	77069992	CAT	-	77069990	7	5	38	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-3A-A9J0-01A-11D-A40W-08	1218033	77069990	57936526	86	4560											
MCAM	4162	broad.mit.edu	37	chr11	119182565	119182565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggttcaggccgggtatgCtgggcacagacgccacgcag	16	12	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:119182565C>T	ENST00000264036.4	-	10	1252	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	MCAM_ENST00000392814.1_Missense_Mutation_p.S362N	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	413	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCCGGGTATGCTGGGCACAGA	0.617																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1084-1086)aGc>aAc		melanoma cell adhesion molecule							89	92	91					11																	119182565		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182565C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1238G>A	11.37:g.119182565C>T	ENSP00000264036:p.Ser413Asn					MCAM_ENST00000264036.4_Missense_Mutation_p.S413N	p.S362N			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1814	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	413			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1085G>A	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664926	0.47572	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.15256	2.44;2.44	4.86	1.75	0.24633	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.	.	.	.	T	0.20577	0.0495	M	0.80183	2.485	0.22354	N	0.999179	B	0.20671	0.047	B	0.20577	0.03	T	0.17684	-1.0361	9	0.38643	T	0.18	-5.4	6.2247	0.20701	0.0:0.5299:0.3693:0.1008	.	413	P43121	MUC18_HUMAN	N	413;362	ENSP00000264036:S413N;ENSP00000376561:S362N	ENSP00000264036:S413N	S	-	2	0	MCAM	118687775	0.002000	0.14202	0.803000	0.32268	0.710000	0.40934	-0.056000	0.11787	1.216000	0.43427	0.561000	0.74099	AGC		0.617	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			5	397	0	0	0	1	0	5	397					T	119182565	C	T	119182565	3	4	38	1	0	0	0	0	1	0	0	0	9409	797	28	2	730	2	MCAM	11	119182565	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	42112575	119182565	15823951	87	4561											
PKNOX2	63876	broad.mit.edu	37	chr11	125281736	125281736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccaccaatataatgcGttcttggctcttccagcatc	7	13	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:125281736G>A	ENST00000298282.9	+	10	1182	c.911G>A	c.(910-912)cGt>cAt	p.R304H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AATATAATGCGTTCTTGGCTC	0.517																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(910-912)cGt>cAt		PBX/knotted 1 homeobox 2							139	138	138					11																	125281736		2064	4217	6281	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125281736G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.911G>A	11.37:g.125281736G>A	ENSP00000298282:p.Arg304His					PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR	p.R304H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	10	1182	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	304					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.911G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173199	0.94807	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.45	5.45	0.79879	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.987;0.98	D	0.91504	0.5221	10	0.87932	D	0	-4.6596	19.2404	0.93879	0.0:0.0:1.0:0.0	.	240;275;304	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	H	275;275;304;240;292	ENSP00000434732:R275H;ENSP00000433971:R275H;ENSP00000298282:R304H;ENSP00000441470:R240H	ENSP00000298282:R304H	R	+	2	0	PKNOX2	124786946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.048000	0.93830	2.714000	0.92807	0.561000	0.74099	CGT		0.517	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			87	378	0	0	0	1	0	87	378					A	125281736	G	A	125281736	3	1	38	1	0	0	0	0	1	0	0	0	12025	1145	40	1	937	1	PKNOX2	11	125281736	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	6099171	125281736	9724780	88	4562											
APLP2	334	broad.mit.edu	37	chr11	129993656	129993656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaggattattgtatgGctgtgtgtaaagcgatgagt	14	3	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:129993656G>A	ENST00000263574.5	+	7	1144	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000539648.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	358	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTATTGTATGGCTGTGTGTAA	0.562																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1072-1074)Gct>Act		amyloid beta (A4) precursor-like protein 2							152	142	146					11																	129993656		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993656G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1072G>A	11.37:g.129993656G>A	ENSP00000263574:p.Ala358Thr					APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000345598.5_Intron	p.A358T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1144	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	358			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1072G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360245	0.95877	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.61	5.61	0.85477	Proteinase inhibitor I2, Kunitz metazoa (6);	0.050804	0.85682	D	0.000000	T	0.66470	0.2792	L	0.42686	1.345	0.80722	D	1	P;D	0.89917	0.91;1.0	P;D	0.87578	0.508;0.998	T	0.61569	-0.7036	10	0.33141	T	0.24	-17.6546	18.621	0.91321	0.0:0.0:1.0:0.0	.	358;358	Q06481;Q06481-3	APLP2_HUMAN;.	T	358;358;368;265	ENSP00000263574:A358T;ENSP00000345444:A358T;ENSP00000278756:A368T;ENSP00000444122:A265T	ENSP00000263574:A358T	A	+	1	0	APLP2	129498866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.631000	0.89168	0.650000	0.86243	GCT		0.562	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		86	378	0	0	0	1	0	86	378					A	129993656	G	A	129993656	3	1	38	1	0	0	0	0	1	0	0	0	779	1203	42	2	1098	2	APLP2	11	129993656	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	4711920	129993656	5012860	89	4563											
FGD4	121512	broad.mit.edu	37	chr12	32754273	32754273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagcagagatggtgaAtaaaatcttttctaatattt	7	5	2	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:32754273A>G	ENST00000427716.2	+	6	1176	c.752A>G	c.(751-753)aAt>aGt	p.N251S	FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000534526.2_Missense_Mutation_p.N388S	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	251	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAGATGGTGAATAAAATCTTT	0.348																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(751-753)aAt>aGt		FYVE, RhoGEF and PH domain containing 4							74	85	81					12																	32754273		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32754273A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.752A>G	12.37:g.32754273A>G	ENSP00000394487:p.Asn251Ser					FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S	p.N251S	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			6	1176	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		251			DH.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.752A>G	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794476	0.31777	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.86	4.86	0.63082	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000056	T	0.64800	0.2631	L	0.31578	0.945	0.42950	D	0.99437	B;B;D;B	0.58970	0.236;0.071;0.984;0.288	B;B;P;B	0.57846	0.18;0.18;0.828;0.095	T	0.67534	-0.5646	10	0.49607	T	0.09	-25.0515	14.6203	0.68579	1.0:0.0:0.0:0.0	.	363;336;251;3	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	S	388;336;251;3;158;363;3	ENSP00000449273:N388S;ENSP00000431323:N336S;ENSP00000394487:N251S;ENSP00000266482:N3S;ENSP00000446695:N158S;ENSP00000433666:N363S;ENSP00000370413:N3S	ENSP00000266482:N3S	N	+	2	0	FGD4	32645540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.697000	0.68295	2.037000	0.60232	0.459000	0.35465	AAT		0.348	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		42	156	0	0	0	1	0	42	156					G	32754273	A	G	32754273	3	3	38	1	0	0	0	0	1	0	0	0	5860	101	4	4	766	4	FGD4	12	32754273	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08		32754273	101097622	90	4564											
PPFIA2	8499	broad.mit.edu	37	chr12	81671195	81671195	+	Splice_Site	DEL	T	T	-													tccatattgtaaacttgttcTtttttttttattaaaaaaaa							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:81671195delT	ENST00000549396.1	-	28	3373		c.e28-2		PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.R1059fs|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333																																						ENST00000333447.7																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3175-3177)gafs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			,,,,,,,,	31,81,3200		1,0,29,4,73,1549	43	38	40		,,,,,,,,	5.7	1	12		43	81,103,7316		0,0,81,6,91,3572	no	splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3	PPFIA2	NM_003625.3,NM_001220480.1,NM_001220479.1,NM_001220478.1,NM_001220477.1,NM_001220476.1,NM_001220475.1,NM_001220474.1,NM_001220473.1	,,,,,,,,	1,0,110,10,164,5121	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4533,3.3816,2.7377	,,,,,,,,	,,,,,,,,	81671195	112,184,10516	1760	4021	5781	SO:0001630	splice_region_variant	8499							g.chr12:81671195delT	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-2A>-	12.37:g.81671195delT						PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron	p.R1059fs			B7Z663	B7Z663_HUMAN			26	3174	-			970					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	ENST00000549396.1	37	c.3175delA	CCDS55857.1																																																																																				0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	14	36						14	36	---	---	---	---	-	81671195	T	-	81671195	8	5	38	1	0	1	0	1	0	0	1	0	12352	1623	56	0	582	0	PPFIA2	12	81671195	Splice_Site	DEL	T	TCGA-3A-A9J0-01A-11D-A40W-08	48916922	81671195	52180700	91	4565											
CLIP1	6249	broad.mit.edu	37	chr12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T													ctgacactggttgtggcttgINStttccattttcttttcctgc					rs77289752	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:122812693_122812694insT	ENST00000540338.1	-	16	3090_3091	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T895fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T971fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.T592fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T1006fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					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)			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)		GTTGTGGCTTGTTTCCATTTTC	0.505																																						ENST00000358808.2																			0				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						c.(3016-3018)aagfs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812693_122812694insT		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.3050dupA	12.37:g.122812696_122812696dupT	ENSP00000439093:p.Thr1017fs					CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs	p.K1006fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3170_3171	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1017					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3016_3017insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	648						9	648	---	---	---	---	T	122812694	-	T	122812693	7	5	38	1	0	1	1	0	0	0	0	0	3541	1377	48	0	1306	0	CLIP1	12	122812693	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	41141498	122812693	11039202	92	4566											
ULK1	8408	broad.mit.edu	37	chr12	132396530	132396530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagaccctggcctcccCggctgacaccgctggcttcc	11	18	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:132396530C>T	ENST00000321867.4	+	13	1343	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	331	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGGCCTCCCCGGCTGACACC	0.632																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(991-993)cCg>cTg		unc-51 like autophagy activating kinase 1							51	47	48					12																	132396530		2203	4298	6501	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132396530C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.992C>T	12.37:g.132396530C>T	ENSP00000324560:p.Pro331Leu						p.P331L	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1343	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		331			Interaction with GABARAP and GABARAPL2.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.992C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977274	0.53720	.	.	ENSG00000177169	ENST00000321867	T	0.72394	-0.65	4.87	4.87	0.63330	Protein kinase-like domain (1);	0.141351	0.47852	D	0.000218	D	0.82513	0.5053	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	D	0.85704	0.1315	10	0.87932	D	0	-38.8868	17.5963	0.88013	0.0:1.0:0.0:0.0	.	331	O75385	ULK1_HUMAN	L	331	ENSP00000324560:P331L	ENSP00000324560:P331L	P	+	2	0	ULK1	130962483	1.000000	0.71417	0.303000	0.25071	0.032000	0.12392	4.382000	0.59594	2.245000	0.73994	0.561000	0.74099	CCG		0.632	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			91	66	0	0	0	1	0	91	66					T	132396530	C	T	132396530	3	4	38	1	0	0	0	0	1	0	0	0	17029	652	23	1	1042	1	ULK1	12	132396530	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	9583837	132396530	1455365	93	4567											
EP400	57634	broad.mit.edu	37	chr12	132445272	132445272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccccaacccacccccGtcccccgcagctcccttcgc	5	27	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:132445272G>A	ENST00000333577.4	+	2	217	c.108G>A	c.(106-108)ccG>ccA	p.P36P	EP400_ENST00000389561.2_Silent_p.P36P|EP400_ENST00000332482.4_Silent_p.P36P|EP400_ENST00000330386.6_Silent_p.P36P|EP400_ENST00000389562.2_Silent_p.P36P			Q96L91	EP400_HUMAN	E1A binding protein p400	36					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCCACCCCCGTCCCCCGCAG	0.667																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(106-108)ccG>ccA		E1A binding protein p400							11	14	13					12																	132445272		2154	4230	6384	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445272G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.108G>A	12.37:g.132445272G>A						EP400_ENST00000389561.2_Silent_p.P36P|EP400_ENST00000330386.6_Silent_p.P36P|EP400_ENST00000332482.4_Silent_p.P36P|EP400_ENST00000389562.2_Silent_p.P36P	p.P36P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	217	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	36					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.108G>A																																																																																					0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		21	33	0	0	0	1	0	21	33					A	132445272	G	A	132445272	2	1	38	1	0	0	0	0	0	0	0	1	5167	1132	40	1		1	EP400	12	132445272	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	48742	132445272	1406623	94	4568											
ZNF605	100289635	broad.mit.edu	37	chr12	133502024	133502024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttgaaggtggtcccacactCattgcatccatagtatttat	8	9	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:133502024C>G	ENST00000360187.4	-	5	2209	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GTCCCACACTCATTGCATCCA	0.383																																						ENST00000360187.4																			0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1861-1863)Gag>Cag		zinc finger protein 605							120	115	116					12																	133502024		2203	4300	6503	SO:0001583	missense	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502024C>G	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1861G>C	12.37:g.133502024C>G	ENSP00000353314:p.Glu621Gln					ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q	p.E621Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	2209	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	621					B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	c.1861G>C	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835555	0.50951	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.52057	0.68;0.68	3.72	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35451	0.0932	L	0.32530	0.975	0.21984	N	0.999438	B;B	0.16166	0.003;0.016	B;B	0.12156	0.006;0.007	T	0.20571	-1.0271	9	0.22706	T	0.39	.	12.2303	0.54484	0.0:0.656:0.344:0.0	.	652;621	B3KVG4;Q86T29	.;ZN605_HUMAN	Q	621;652	ENSP00000353314:E621Q;ENSP00000376135:E652Q	ENSP00000353314:E621Q	E	-	1	0	ZNF605	132012097	0.000000	0.05858	0.005000	0.12908	0.937000	0.57800	0.278000	0.18753	0.325000	0.23359	0.462000	0.41574	GAG		0.383	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		129	196	0	0	0	1	0	129	196					G	133502024	C	G	133502024	3	3	38	1	0	0	0	0	1	0	0	0	18084	835	29	5	68	5	ZNF605	12	133502024	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1056752	133502024	349871	95	4569											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)			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)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				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						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	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.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice	p.M41_splice			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)	4	165	-		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)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	5	346	0	0	0	1	0	5	346					C	20056686	T	C	20056686	5	2	38	1	0	0	0	0	0	0	1	0	16484	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08		20056686	95113192	96	4570											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		9	479						9	479	---	---	---	---	-	20426145	CAT	-	20426143	7	5	38	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-3A-A9J0-01A-11D-A40W-08	369457	20426143	94743735	97	4571											
RNF17	56163	broad.mit.edu	37	chr13	25444786	25444786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgatagtggagtcagCggggaatcagaatccgagag	15	6	2	4	rs200797570		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:25444786C>T	ENST00000255324.5	+	32	4408	c.4356C>T	c.(4354-4356)agC>agT	p.S1452S	RNF17_ENST00000339524.3_Silent_p.S462S|RNF17_ENST00000381921.1_Silent_p.S1410S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1452					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)			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)		GTGGAGTCAGCGGGGAATCAG	0.438																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4354-4356)agC>agT		ring finger protein 17							117	109	111					13																	25444786		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25444786C>T	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.4356C>T	13.37:g.25444786C>T						RNF17_ENST00000381921.1_Silent_p.S1410S|RNF17_ENST00000339524.3_Silent_p.S462S	p.S1452S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	32	4408	+		Lung SC(185;0.0225)|Breast(139;0.077)	1452					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.4356C>T	CCDS9308.2																																																																																				0.438	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		148	352	0	0	0	1	0	148	352					T	25444786	C	T	25444786	2	4	38	1	0	0	0	0	0	0	0	1	13511	767	27	1		1	RNF17	13	25444786	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5018643	25444786	89725092	98	4572											
BRCA2	675	broad.mit.edu	37	chr13	32971139	32971139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagactgtacttcagggccGtacactgctcaaatcattcc	7	12	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:32971139G>A	ENST00000380152.3	+	26	9839	c.9606G>A	c.(9604-9606)ccG>ccA	p.P3202P	BRCA2_ENST00000544455.1_Silent_p.P3202P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3202					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTCAGGGCCGTACACTGCTC	0.393			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9604-9606)ccG>ccA	Homologous recombination	breast cancer 2, early onset							247	240	242					13																	32971139		2203	4300	6503	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32971139G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9606G>A	13.37:g.32971139G>A		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.P3202P	p.P3202P	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	26	9833	+		Lung SC(185;0.0262)	3202					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.9606G>A	CCDS9344.1																																																																																				0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	1840	0	0	0	1	0	12	1840					A	32971139	G	A	32971139	2	1	38	1	0	0	0	0	0	0	0	1	1503	1132	40	1		1	BRCA2	13	32971139	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7526353	32971139	82198739	99	4573											
KL	9365	broad.mit.edu	37	chr13	33635841	33635841	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacataatatccaatggaatCgatgacgggctgcatgctga	10	8	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:33635841C>T	ENST00000380099.3	+	4	2633	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	875	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAATGGAATCGATGACGGGC	0.517																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2623-2625)atC>atT		klotho							114	113	113					13																	33635841		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635841C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2625C>T	13.37:g.33635841C>T						KL_ENST00000487852.1_3'UTR	p.I875I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2633	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	875			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2625C>T	CCDS9347.1																																																																																				0.517	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			203	345	0	0	0	1	0	203	345					T	33635841	C	T	33635841	2	4	38	1	0	0	0	0	0	0	0	1	8361	874	31	1		1	KL	13	33635841	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	664702	33635841	81534037	100	4574											
CPB2	1361	broad.mit.edu	37	chr13	46638808	46638808	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgtttggaagcaaagttCctattcaggtctgttccgat	10	8	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:46638808C>T	ENST00000181383.4	-	8	787	c.771G>A	c.(769-771)agG>agA	p.R257R	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Silent_p.R220R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	257					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAGCAAAGTTCCTATTCAGGT	0.413																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(769-771)agG>agA		carboxypeptidase B2 (plasma)							182	152	162					13																	46638808		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46638808C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.771G>A	13.37:g.46638808C>T						CPB2_ENST00000439329.3_Silent_p.R220R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	p.R257R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	8	787	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	257					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.771G>A	CCDS9401.1																																																																																				0.413	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		5	379	0	0	0	1	0	5	379					T	46638808	C	T	46638808	2	4	38	1	0	0	0	0	0	0	0	1	3806	854	30	2		2	CPB2	13	46638808	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	13002967	46638808	68531070	101	4575											
PCDH8	5100	broad.mit.edu	37	chr13	53420319	53420319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggccagcacgatgatgacGatcagcggcgtgtcccattg	13	13	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:53420319G>A	ENST00000377942.3	-	1	2456	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PCDH8_ENST00000338862.4_Silent_p.I751I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	751					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGATGATGACGATCAGCGGCG	0.701																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2251-2253)atC>atT		protocadherin 8							27	36	33					13																	53420319		2167	4239	6406	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420319G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2253C>T	13.37:g.53420319G>A						PCDH8_ENST00000338862.4_Silent_p.I751I	p.I751I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2456	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	751					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2253C>T	CCDS9438.1																																																																																				0.701	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		29	244	0	0	0	1	0	29	244					A	53420319	G	A	53420319	2	1	38	1	0	0	0	0	0	0	0	1	11559	1048	37	1		1	PCDH8	13	53420319	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	6781511	53420319	61749559	102	4576											
SLAIN1	122060	broad.mit.edu	37	chr13	78293775	78293775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcctgagatggaagcagcGagacgttccctgtgctttag	12	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:78293775G>A	ENST00000466548.1	+	3	695	c.669G>A	c.(667-669)gcG>gcA	p.A223A	SLAIN1_ENST00000267219.8_Silent_p.A4A|SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	223										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGGAAGCAGCGAGACGTTCCC	0.468																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(667-669)gcG>gcA		SLAIN motif family, member 1							378	301	327					13																	78293775		2203	4300	6503	SO:0001819	synonymous_variant	122060							g.chr13:78293775G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.669G>A	13.37:g.78293775G>A						SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A|SLAIN1_ENST00000267219.8_Silent_p.A4A	p.A223A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	3	695	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	223					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	ENST00000466548.1	37	c.669G>A																																																																																					0.468	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		109	807	0	0	0	1	0	109	807					A	78293775	G	A	78293775	2	1	38	1	0	0	0	0	0	0	0	1	14415	1045	37	1		1	SLAIN1	13	78293775	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	24873456	78293775	36876103	103	4577											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	365						7	365	---	---	---	---	-	88329796	CGG	-	88329794	7	5	38	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-3A-A9J0-01A-11D-A40W-08	10036019	88329794	26840084	104	4578											
ZIC2	7546	broad.mit.edu	37	chr13	100637726	100637726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagcggcggcggcGgctgcggcggcggcggccgc	24	15	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1387-1389)gcG>gcT		Zic family member 2							2	3	3					13																	100637726		765	1850	2615	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637726G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1389G>T	13.37:g.100637726G>T						ZIC2_ENST00000477213.1_3'UTR	p.A463A	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			3	1682	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		463			Poly-Ala.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1389G>T	CCDS9495.1																																																																																				0.816	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		3	24	1	0	0.115264	1	0.116477	3	24					T	100637726	G	T	100637726	2	4	38	1	0	0	0	0	0	0	0	1	17732	1103	39	3		3	ZIC2	13	100637726	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	12307932	100637726	14532152	105	4579											
ZNF828	283489	broad.mit.edu	37	chr13	115091201	115091201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaccaagagagctcagaCgctgagcttagtagtagtga	12	8	1	4	rs375402608		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:115091201C>T	ENST00000361283.1	+	3	2193	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	628	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGAGCTCAGACGCTGAGCTTA	0.408																																						ENST00000361283.1																			0											c.(1882-1884)gaC>gaT		chromosome alignment maintaining phosphoprotein 1		C	,,	0,4406		0,0,2203	82	91	88		1884,1884,1884	1.6	1	13		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF828	NM_001164144.1,NM_001164145.1,NM_032436.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	628/813,628/813,628/813	115091201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091201C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1884C>T	13.37:g.115091201C>T							p.D628D	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	2193	+			628			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1884C>T	CCDS9545.1																																																																																				0.408	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		18	754	0	0	0	1	0	18	754					T	115091201	C	T	115091201	2	4	38	1	0	0	0	0	0	0	0	1	18234	535	19	1		1	ZNF828	13	115091201	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	14453475	115091201	78677	106	4580											
FERMT2	10979	broad.mit.edu	37	chr14	53386031	53386031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagaagccaagttctcttCttttcccaccagagagcatg	7	12	3	2	rs567979465		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:53386031C>T	ENST00000395631.2	-	3	417	c.201G>A	c.(199-201)aaG>aaA	p.K67K	FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K|FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K			Q96AC1	FERM2_HUMAN	fermitin family member 2	67	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGTTCTCTTCTTTTCCCACC	0.393																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(199-201)aaG>aaA		fermitin family member 2							129	119	123					14																	53386031		2203	4300	6503	SO:0001819	synonymous_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53386031C>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.201G>A	14.37:g.53386031C>T						FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K	p.K67K			Q96AC1	FERM2_HUMAN			3	417	-	Breast(41;0.0342)		67					B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.201G>A	CCDS9713.1																																																																																				0.393	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		108	722	0	0	0	1	0	108	722					T	53386031	C	T	53386031	2	4	38	1	0	0	0	0	0	0	0	1	5843	912	32	2		2	FERMT2	14	53386031	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		53386031	53963509	107	4581											
WDR89	112840	broad.mit.edu	37	chr14	64066609	64066609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgggctctttggttcctaAggaacatttaacaatgtgca	10	7	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:64066609A>T	ENST00000394942.2	-	2	140	c.52T>A	c.(52-54)Tta>Ata	p.L18I	WDR89_ENST00000267522.3_Missense_Mutation_p.L18I|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	18										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTGGTTCCTAAGGAACATTTA	0.368																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(52-54)Tta>Ata		WD repeat domain 89							68	69	69					14																	64066609		2203	4298	6501	SO:0001583	missense	112840							g.chr14:64066609A>T	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.52T>A	14.37:g.64066609A>T	ENSP00000378399:p.Leu18Ile					WDR89_ENST00000267522.3_Missense_Mutation_p.L18I	p.L18I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	140	-			18						Missense_Mutation	SNP	ENST00000394942.2	37	c.52T>A	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	A	3.553	-0.091356	0.07053	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.67171	-0.25;-0.25;0.96	5.93	3.42	0.39159	.	0.938409	0.09031	N	0.858708	T	0.47040	0.1424	N	0.14661	0.345	0.09310	N	0.999998	B	0.15473	0.013	B	0.09377	0.004	T	0.29579	-1.0007	10	0.20046	T	0.44	.	8.1435	0.31097	0.6475:0.2533:0.0:0.0992	.	18	Q96FK6	WDR89_HUMAN	I	18	ENSP00000378399:L18I;ENSP00000267522:L18I;ENSP00000451702:L18I	ENSP00000267522:L18I	L	-	1	2	WDR89	63136362	0.692000	0.27719	0.971000	0.41717	0.360000	0.29518	0.704000	0.25661	1.055000	0.40461	0.533000	0.62120	TTA		0.368	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		134	384	0	0	0	1	0	134	384					T	64066609	A	T	64066609	3	4	38	1	0	0	0	0	1	0	0	0	17390	69	3	5	1115	5	WDR89	14	64066609	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	10680578	64066609	43282931	108	4582											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	779						7	779	---	---	---	---	-	95921890	CTC	-	95921888	7	5	38	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-3A-A9J0-01A-11D-A40W-08	31855279	95921888	11427652	109	4583											
RYR3	6263	broad.mit.edu	37	chr15	34130031	34130031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaaggccatggaaggGcaaaaacagtacacgcagtc	11	10	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:34130031G>A	ENST00000389232.4	+	89	11920	c.11850G>A	c.(11848-11850)ggG>ggA	p.G3950G	RYR3_ENST00000415757.3_Silent_p.G3945G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3950					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.G3949G(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)		CCATGGAAGGGCAAAAACAGT	0.408																																						ENST00000389232.4																			1	Substitution - coding silent(1)	p.G3949G(1)	lung(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						c.(11848-11850)ggG>ggA		ryanodine receptor 3							109	105	107					15																	34130031		1905	4114	6019	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130031G>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.11850G>A	15.37:g.34130031G>A						RYR3_ENST00000415757.3_Silent_p.G3945G	p.G3950G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11920	+		all_lung(180;7.18e-09)	3950			EF-hand.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11850G>A	CCDS45210.1																																																																																				0.408	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	425	0	0	0	1	0	5	425					A	34130031	G	A	34130031	2	1	38	1	0	0	0	0	0	0	0	1	13820	1190	42	2		2	RYR3	15	34130031	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		34130031	68401361	110	4584											
MYO5C	55930	broad.mit.edu	37	chr15	52534277	52534277	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttgccaggaatcctcGgctgtaggcctgcattgtga	11	13	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:52534277G>A	ENST00000261839.7	-	20	2685	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	842	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGAATCCTCGGCTGTAGGCC	0.542																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2524-2526)Cga>Tga		myosin VC							209	209	209					15																	52534277		2026	4188	6214	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52534277G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2524C>T	15.37:g.52534277G>A	ENSP00000261839:p.Arg842*					MYO5C_ENST00000443683.2_Intron	p.R842*	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	20	2685	-			842			IQ 4.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.2524C>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	39	7.406745	0.98265	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.09	3.11	0.35812	.	0.068470	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3048	0.60347	0.0:0.0:0.5797:0.4203	.	.	.	.	X	842	.	ENSP00000261839:R842X	R	-	1	2	MYO5C	50321569	0.973000	0.33851	0.975000	0.42487	0.225000	0.24961	1.711000	0.37930	0.653000	0.30826	0.650000	0.86243	CGA		0.542	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		338	1027	0	0	0	1	0	338	1027					A	52534277	G	A	52534277	4	1	38	1	0	0	0	0	0	1	0	0	10121	1124	39	1	2792	1	MYO5C	15	52534277	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	18404246	52534277	49997115	111	4585											
UNC13C	440279	broad.mit.edu	37	chr15	54825264	54825264	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggattttttggacaaaaCgtaagtttttttgcccagtt	8	5	0	0	rs377163291		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:54825264C>T	ENST00000260323.11	+	25	5696	c.5696C>T	c.(5695-5697)aCa>aTa	p.T1899I	UNC13C_ENST00000545554.1_Splice_Site_p.T1899I|UNC13C_ENST00000537900.1_Splice_Site_p.T1897I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1899	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGGACAAAACGTAAGTTTTT	0.338																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.e25+1		unc-13 homolog C (C. elegans)		C	ILE/THR	0,3610		0,0,1805	65	66	66		5696	4.9	1	15		66	1,8129		0,1,4064	no	missense-near-splice	UNC13C	NM_001080534.1	89	0,1,5869	TT,TC,CC		0.0123,0.0,0.0085	benign	1899/2215	54825264	1,11739	1805	4065	5870	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825264C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5696+1C>T	15.37:g.54825264C>T						UNC13C_ENST00000537900.1_Splice_Site_p.T1897_splice|UNC13C_ENST00000260323.11_Splice_Site_p.T1899_splice	p.T1899_splice			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	25	5696	+			1899			MHD2.		Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5696_splice	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047374	0.36085	0.0	1.23E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.15256	2.44;2.44;2.44	5.83	4.91	0.64330	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.104815	0.64402	D	0.000004	T	0.14570	0.0352	L	0.29908	0.895	0.40999	D	0.98491	B	0.16603	0.018	B	0.16722	0.016	T	0.03863	-1.0997	10	0.39692	T	0.17	.	14.2915	0.66281	0.0:0.9288:0.0:0.0712	.	1899	Q8NB66	UN13C_HUMAN	I	1899;1899;1897	ENSP00000260323:T1899I;ENSP00000438156:T1899I;ENSP00000442569:T1897I	ENSP00000260323:T1899I	T	+	2	0	UNC13C	52612556	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.303000	0.33470	1.472000	0.48140	0.655000	0.94253	ACA		0.338	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Missense_Mutation	5	59	0	0	0	1	0	5	59					T	54825264	C	T	54825264	5	4	38	1	0	0	0	0	0	0	1	0	17040	550	19	1	5790	1	UNC13C	15	54825264	Splice_Site	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	2290987	54825264	47706128	112	4586											
C15orf59	388135	broad.mit.edu	37	chr15	74032867	74032868	+	Frame_Shift_Ins	INS	-	-	C													ggtggcccaggtcaaaggggINSccacccatgcccgccttgtc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:74032867_74032868insC	ENST00000569673.1	-	3	1476_1477	c.272_273insG	c.(271-273)ggcfs	p.G91fs	C15orf59_ENST00000558834.1_Intron|C15orf59_ENST00000379822.4_Frame_Shift_Ins_p.G91fs			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	91										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCAAAGGGGCCACCCATGCC	0.599																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(271-273)gccfs		chromosome 15 open reading frame 59																																				SO:0001589	frameshift_variant	388135							g.chr15:74032867_74032868insC		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.273dupG	15.37:g.74032869_74032869dupC	ENSP00000457205:p.Gly91fs					C15orf59_ENST00000379822.4_Frame_Shift_Ins_p.A91fs|C15orf59_ENST00000558834.1_Intron	p.A91fs			Q2T9L4	CO059_HUMAN			3	1476_1477	-			91						Frame_Shift_Ins	INS	ENST00000569673.1	37	c.272_273insG	CCDS32289.1																																																																																				0.599	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		7	1253						7	1253	---	---	---	---	C	74032868	-	C	74032867	7	5	38	1	0	1	1	0	0	0	0	0	1812	1190	42	0	612	0	C15orf59	15	74032867	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	19207603	74032867	28498525	113	4587											
CIB2	10518	broad.mit.edu	37	chr15	78401612	78401612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagtttgccttgagctctCggggagccgactcgcagagc	13	12	1	2	rs200697103		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:78401612C>T	ENST00000258930.3	-	4	639	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.R104Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTTGAGCTCTCGGGGAGCCGA	0.552																																						ENST00000258930.3																			1	Substitution - Missense(1)	p.R104Q(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(310-312)cGa>cAa		calcium and integrin binding family member 2		C	GLN/ARG	0,4392		0,0,2196	95	83	87		311	4.5	1	15		87	3,8583	3.0+/-9.4	0,3,4290	yes	missense	CIB2	NM_006383.2	43	0,3,6486	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	104/188	78401612	3,12975	2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78401612C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.311G>A	15.37:g.78401612C>T	ENSP00000258930:p.Arg104Gln					CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q|CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q	p.R104Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			4	639	-			104			EF-hand 2.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.311G>A	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114424	0.94339	0.0	3.49E-4	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.67171	-0.25;2.96	4.46	4.46	0.54185	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.58669	1.825	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.64506	0.926;0.925	T	0.78607	-0.2138	10	0.48119	T	0.1	-16.4882	16.4633	0.84071	0.0:1.0:0.0:0.0	.	104;104	B4DDF0;O75838	.;CIB2_HUMAN	Q	104;61	ENSP00000258930:R104Q;ENSP00000442459:R61Q	ENSP00000258930:R104Q	R	-	2	0	CIB2	76188667	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	7.617000	0.83032	2.199000	0.70637	0.591000	0.81541	CGA		0.552	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		5	365	0	0	0	1	0	5	365					T	78401612	C	T	78401612	3	4	38	1	0	0	0	0	1	0	0	0	3430	884	31	1	264	1	CIB2	15	78401612	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	4368745	78401612	24129780	114	4588											
RGMA	56963	broad.mit.edu	37	chr15	93588701	93588701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcctctggcatgcggaCggcaaaggtcaggtagcggc	14	12	2	0	rs201119116	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:93588701C>T	ENST00000329082.7	-	4	1151	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	RGMA_ENST00000538818.1_Missense_Mutation_p.V185I|RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	294					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCATGCGGACGGCAAAGGTC	0.622													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19417	0.0		0.001	False		,,,				2504	0.0					ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(880-882)Gtc>Atc		repulsive guidance molecule family member a							31	37	35					15																	93588701		2131	4229	6360	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588701C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.880G>A	15.37:g.93588701C>T	ENSP00000330005:p.Val294Ile					RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I|RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I	p.V294I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1151	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		294					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.880G>A	CCDS45357.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.222	0.226549	0.09916	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.76	3.81	0.43845	Repulsive guidance molecule, C-terminal (1);	0.058854	0.64402	N	0.000002	T	0.71417	0.3337	N	0.25825	0.765	0.80722	D	1	B;B	0.18741	0.024;0.03	B;B	0.15052	0.012;0.012	T	0.61491	-0.7052	10	0.02654	T	1	-9.2223	10.6561	0.45675	0.0:0.8974:0.0:0.1026	.	302;294	G3V518;Q96B86	.;RGMA_HUMAN	I	278;278;294;278;185;302	ENSP00000442498:V278I;ENSP00000404442:V278I;ENSP00000330005:V294I;ENSP00000440025:V278I;ENSP00000442546:V185I;ENSP00000452126:V302I	ENSP00000330005:V294I	V	-	1	0	RGMA	91389705	0.999000	0.42202	0.400000	0.26346	0.678000	0.39670	4.046000	0.57376	0.880000	0.35969	0.491000	0.48974	GTC		0.622	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		17	132	0	0	0	1	0	17	132					T	93588701	C	T	93588701	3	4	38	1	0	0	0	0	1	0	0	0	13330	536	19	1	476	1	RGMA	15	93588701	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	15187089	93588701	8942691	115	4589											
WDR90	197335	broad.mit.edu	37	chr16	708985	708985	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaggggacgccgtcttcctCtgggatgtcctggcccctac	13	15	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:708985C>G	ENST00000293879.4	+	24	2985	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	WDR90_ENST00000549091.1_Silent_p.L995L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	995										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTCTTCCTCTGGGATGTCC	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2983-2985)ctC>ctG		WD repeat domain 90							77	95	89					16																	708985		2110	4220	6330	SO:0001819	synonymous_variant	197335							g.chr16:708985C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2985C>G	16.37:g.708985C>G						WDR90_ENST00000293879.4_Silent_p.L995L	p.L995L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			24	3077	+		Hepatocellular(780;0.0218)	995					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.2985C>G	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		20	418	0	0	0	1	0	20	418					G	708985	C	G	708985	2	3	38	1	0	0	0	0	0	0	0	1	17391	900	32	5		5	WDR90	16	708985	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		708985	89645768	116	4590											
CACNA1H	8912	broad.mit.edu	37	chr16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgcgccatcaaccgcGtgcctagtaagtgaccggcc	10	18	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCAACCGCGTGCCTAGTAA	0.652																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(637-639)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						41	49	47					16																	1246017		2016	4165	6181	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1246017G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.637G>A	16.37:g.1246017G>A	ENSP00000334198:p.Val213Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			5	885	+		Hepatocellular(780;0.00369)	213					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.637G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447525	0.63178	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98649	-5.05;-5.05	4.23	4.23	0.50019	Ion transport (1);	0.149470	0.44688	N	0.000436	D	0.99080	0.9684	M	0.83774	2.66	0.40988	D	0.984831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.99875	1.1103	10	0.87932	D	0	.	15.9489	0.79817	0.0:0.0:1.0:0.0	.	213;213	O95180-2;O95180	.;CAC1H_HUMAN	M	213	ENSP00000334198:V213M;ENSP00000351401:V213M	ENSP00000334198:V213M	V	+	1	0	CACNA1H	1186018	1.000000	0.71417	0.923000	0.36655	0.020000	0.10135	9.594000	0.98254	2.061000	0.61500	0.478000	0.44815	GTG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		45	254	0	0	0	1	0	45	254					A	1246017	G	A	1246017	3	1	38	1	0	0	0	0	1	0	0	0	2552	1145	40	1	651	1	CACNA1H	16	1246017	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	537032	1246017	89108736	117	4591											
USP31	57478	broad.mit.edu	37	chr16	23119457	23119457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaactcctgggcatcAtgttgggaatttccccggta	11	10	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:23119457A>G	ENST00000219689.7	-	2	680	c.681T>C	c.(679-681)caT>caC	p.H227H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	180	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGGGCATCATGTTGGGAAT	0.478																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(679-681)caT>caC		ubiquitin specific peptidase 31							100	96	97					16																	23119457		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23119457A>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.681T>C	16.37:g.23119457A>G							p.H227H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	2	680	-			227					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.681T>C	CCDS10607.1																																																																																				0.478	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		66	291	0	0	0	1	0	66	291					G	23119457	A	G	23119457	2	3	38	1	0	0	0	0	0	0	0	1	17116	214	8	4		4	USP31	16	23119457	Silent	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	21873440	23119457	67235296	118	4592											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251421	25251421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctccggtgggcgctgaAatgagaactgttggtgaaac	13	8	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:25251421A>C	ENST00000328086.7	-	7	3423	c.2620T>G	c.(2620-2622)Ttc>Gtc	p.F874V	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	874					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGGGCGCTGAAATGAGAACTG	0.458																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2620-2622)Ttc>Gtc		zinc finger with KRAB and SCAN domains 2							86	81	83					16																	25251421		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251421A>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2620T>G	16.37:g.25251421A>C	ENSP00000331626:p.Phe874Val						p.F874V	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3423	-			874					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2620T>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026466	0.54683	.	.	ENSG00000155592	ENST00000328086	T	0.18338	2.22	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173579	0.41823	D	0.000812	T	0.19886	0.0478	L	0.31120	0.905	0.36356	D	0.860369	P;D	0.53619	0.951;0.961	P;P	0.53224	0.696;0.721	T	0.10451	-1.0629	10	0.66056	D	0.02	-9.4959	8.0971	0.30835	0.913:0.0:0.087:0.0	.	670;874	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	V	874	ENSP00000331626:F874V	ENSP00000331626:F874V	F	-	1	0	ZKSCAN2	25158922	0.820000	0.29190	0.998000	0.56505	0.489000	0.33432	1.465000	0.35299	2.315000	0.78130	0.533000	0.62120	TTC		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		70	426	0	0	0	1	0	70	426					C	25251421	A	C	25251421	3	2	38	1	0	0	0	0	1	0	0	0	17740	14	1	4	287	4	ZKSCAN2	16	25251421	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	2131964	25251421	65103332	119	4593											
ATXN2L	11273	broad.mit.edu	37	chr16	28841228	28841228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcgtcagcgagagctgCgtgcggcccagttggctcga	15	11	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:28841228C>T	ENST00000336783.4	+	8	1050	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	295					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCGAGAGCTGCGTGCGGCCCA	0.577																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(883-885)Cgt>Tgt		ataxin 2-like							68	66	67					16																	28841228		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28841228C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.883C>T	16.37:g.28841228C>T	ENSP00000338718:p.Arg295Cys					ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C	p.R295C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			8	1050	+			295					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.883C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.882278	0.91740	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.51817	0.7;0.7;0.69;0.7;0.7	5.85	5.85	0.93711	LsmAD domain (1);	0.000000	0.64402	D	0.000001	T	0.67711	0.2922	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.998;0.998;0.998;0.997;0.997;0.998;0.997	T	0.69672	-0.5082	10	0.87932	D	0	-9.2431	14.4368	0.67287	0.148:0.8519:0.0:0.0	.	295;295;295;295;295;295;295;295	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	295	ENSP00000341459:R295C;ENSP00000378917:R295C;ENSP00000338718:R295C;ENSP00000372133:R295C;ENSP00000315650:R295C	ENSP00000315650:R295C	R	+	1	0	ATXN2L	28748729	0.953000	0.32496	1.000000	0.80357	0.950000	0.60333	2.191000	0.42640	2.779000	0.95612	0.491000	0.48974	CGT		0.577	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		50	220	0	0	0	1	0	50	220					T	28841228	C	T	28841228	3	4	38	1	0	0	0	0	1	0	0	0	1213	768	27	1	913	1	ATXN2L	16	28841228	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3589807	28841228	61513525	120	4594											
KIF22	3835	broad.mit.edu	37	chr16	29814108	29814108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccctacagaagctaagCagcatggacccggccatgct	10	15	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:29814108C>A	ENST00000160827.4	+	9	1339	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	KIF22_ENST00000400751.5_Missense_Mutation_p.S365R|KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000561482.1_Missense_Mutation_p.S365R|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	433				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGCTAAGCAGCATGGACC	0.617																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(1093-1095)agC>agA		kinesin family member 22							57	62	60					16																	29814108		2197	4298	6495	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29814108C>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1299C>A	16.37:g.29814108C>A	ENSP00000160827:p.Ser433Arg					KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000160827.4_Missense_Mutation_p.S433R|KIF22_ENST00000400751.5_Missense_Mutation_p.S365R|KIF22_ENST00000400750.2_5'UTR	p.S365R	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			9	1732	+			433					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.1095C>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646600	0.47258	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74002	-0.72;-0.8	5.67	-4.09	0.03951	.	.	.	.	.	T	0.50034	0.1592	N	0.14661	0.345	0.25229	N	0.989848	P;P	0.40731	0.483;0.728	B;B	0.37601	0.084;0.254	T	0.46020	-0.9221	9	0.23891	T	0.37	.	8.278	0.31883	0.0:0.5586:0.2028:0.2385	.	365;433	B7Z265;Q14807	.;KIF22_HUMAN	R	433;365	ENSP00000160827:S433R;ENSP00000383562:S365R	ENSP00000160827:S433R	S	+	3	2	KIF22	29721609	0.167000	0.22975	0.935000	0.37517	0.919000	0.55068	-0.212000	0.09319	-0.299000	0.08909	-0.156000	0.13503	AGC		0.617	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			5	395	1	0	0.00307968	1	0.00319621	5	395					A	29814108	C	A	29814108	3	1	38	1	0	0	0	0	1	0	0	0	8320	709	25	3	1333	3	KIF22	16	29814108	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	972880	29814108	60540645	121	4595											
SEPT1	1731	broad.mit.edu	37	chr16	30393182	30393182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgccccggcgctcaatGgccagggtctgtgtcaagcg	13	14	4	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:30393182G>A	ENST00000571393.1	-	5	390	c.204C>T	c.(202-204)gcC>gcT	p.A68A	SEPT1_ENST00000321367.3_Silent_p.A115A|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Silent_p.A73A			Q8WYJ6	SEPT1_HUMAN	septin 1	68	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGCGCTCAATGGCCAGGGTCT	0.562																																						ENST00000321367.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24						c.(343-345)gcC>gcT		septin 1							109	107	108					16																	30393182		2197	4300	6497	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30393182G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.204C>T	16.37:g.30393182G>A						SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000571393.1_Silent_p.A68A	p.A115A	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		5	390	-			68					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.345C>T																																																																																					0.562	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		28	820	0	0	0	1	0	28	820					A	30393182	G	A	30393182	2	1	38	1	0	0	0	0	0	0	0	1	14109	1335	47	2		2	SEPT1	16	30393182	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	579074	30393182	59961571	122	4596											
ABCC12	94160	broad.mit.edu	37	chr16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaaccggatggccGtgcggtagttgatggcccag	13	13	1	1	rs535991858		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:48174686G>A	ENST00000311303.3	-	4	914	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	190	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19848	0.001		0.0	False		,,,				2504	0.0					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(568-570)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							101	104	103					16																	48174686		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48174686G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.569C>T	16.37:g.48174686G>A	ENSP00000311030:p.Thr190Met					ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			4	914	-		all_cancers(37;0.0474)|all_lung(18;0.047)	190			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.569C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641298	0.47153	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.90197	-2.63;-2.63;-2.63	6.07	4.13	0.48395	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	0.94896	0.8350	M	0.84219	2.685	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94242	0.7486	10	0.51188	T	0.08	.	12.0291	0.53388	0.1413:0.0:0.8587:0.0	.	190;190	Q96J65-2;Q96J65	.;MRP9_HUMAN	M	190	ENSP00000311030:T190M;ENSP00000401855:T190M;ENSP00000413046:T190M	ENSP00000311030:T190M	T	-	2	0	ABCC12	46732187	1.000000	0.71417	0.755000	0.31263	0.011000	0.07611	5.520000	0.67080	0.900000	0.36469	0.655000	0.94253	ACG		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		6	669	0	0	0	1	0	6	669					A	48174686	G	A	48174686	3	1	38	1	0	0	0	0	1	0	0	0	52	1145	40	1	3614	1	ABCC12	16	48174686	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	17781504	48174686	42180067	123	4597											
SLC12A3	6559	broad.mit.edu	37	chr16	56904081	56904081	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcggcctcattttcgctttCgccaatgccgtgggtgtggc	12	12	1	0	rs369387970		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:56904081C>T	ENST00000563236.1	+	5	700	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC12A3_ENST00000566786.1_Silent_p.F224F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000438926.2_Silent_p.F225F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	225					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)			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)	TTTTCGCTTTCGCCAATGCCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.001					ENST00000438926.2																			0				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						c.(673-675)ttC>ttT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	,,	0,4396		0,0,2198	66	65	65		675,672,675	-10.8	0	16		65	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	225/1031,224/1030,225/1022	56904081	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904081C>T		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.675C>T	16.37:g.56904081C>T						SLC12A3_ENST00000563236.1_Silent_p.F225F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F	p.F225F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			5	704	+			225					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.675C>T	CCDS58464.1																																																																																				0.647	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			58	297	0	0	0	1	0	58	297					T	56904081	C	T	56904081	2	4	38	1	0	0	0	0	0	0	0	1	14434	883	31	1		1	SLC12A3	16	56904081	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	8729395	56904081	33450672	124	4598											
NFAT5	10725	broad.mit.edu	37	chr16	69727547	69727547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcagcagcagcagcaAcagcagcagcaacagcagca	11	13	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:69727547A>G	ENST00000354436.2	+	12	4083	c.3765A>G	c.(3763-3765)caA>caG	p.Q1255Q	NFAT5_ENST00000567239.1_Silent_p.Q1272Q|NFAT5_ENST00000393742.2_Silent_p.Q1179Q|NFAT5_ENST00000349945.1_Silent_p.Q1179Q|NFAT5_ENST00000566899.1_Silent_p.Q1179Q|NFAT5_ENST00000432919.1_Silent_p.Q1273Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1255	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						agcagcagcaacagcagcagc	0.483																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3535-3537)caA>caG		nuclear factor of activated T-cells 5, tonicity-responsive							49	48	48					16																	69727547		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727547A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3765A>G	16.37:g.69727547A>G						NFAT5_ENST00000393742.2_Silent_p.Q1179Q|NFAT5_ENST00000432919.1_Silent_p.Q1273Q|NFAT5_ENST00000567239.1_Silent_p.Q1272Q|NFAT5_ENST00000566899.1_Silent_p.Q1179Q|NFAT5_ENST00000354436.2_Silent_p.Q1255Q	p.Q1179Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	5089	+			1255					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.3537A>G	CCDS10881.1																																																																																				0.483	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		5	248	0	0	0	1	0	5	248					G	69727547	A	G	69727547	2	3	38	1	0	0	0	0	0	0	0	1	10402	40	2	4		4	NFAT5	16	69727547	Silent	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	12823466	69727547	20627206	125	4599											
DHX38	9785	broad.mit.edu	37	chr16	72132878	72132878	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaactccctcctacAaatataacgagtgggccgat	7	14	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72132878A>T	ENST00000268482.3	+	6	1326	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	273					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTCCTACAAATATAACGA	0.592																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(817-819)Aaa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 38							57	56	56					16																	72132878		2198	4300	6498	SO:0001587	stop_gained	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72132878A>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.817A>T	16.37:g.72132878A>T	ENSP00000268482:p.Lys273*					DHX38_ENST00000536867.1_Intron	p.K273*	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			6	1326	+		Ovarian(137;0.125)	273					B4DVG8|D3DWS7|O75212|Q96HN7	Nonsense_Mutation	SNP	ENST00000268482.3	37	c.817A>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	41	8.828726	0.98970	.	.	ENSG00000140829	ENST00000268482	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7562	0.69567	1.0:0.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000268482:K273X	K	+	1	0	DHX38	70690379	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	8.784000	0.91818	1.958000	0.56883	0.460000	0.39030	AAA		0.592	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		53	102	0	0	0	1	0	53	102					T	72132878	A	T	72132878	4	4	38	1	0	0	0	0	0	1	0	0	4527	131	5	5	835	5	DHX38	16	72132878	Nonsense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	2405331	72132878	18221875	126	4600											
SPATA2L	124044	broad.mit.edu	37	chr16	89764252	89764252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctgtaggccagctcCgccgggggcgagtcagggcc	19	13	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:89764252C>T	ENST00000289805.5	-	3	833	c.765G>A	c.(763-765)gcG>gcA	p.A255A	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	255										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCAGCTCCGCCGGGGGCG	0.701																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(763-765)gcG>gcA		spermatogenesis associated 2-like							10	11	11					16																	89764252		2191	4281	6472	SO:0001819	synonymous_variant	124044							g.chr16:89764252C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.765G>A	16.37:g.89764252C>T						SPATA2L_ENST00000335360.7_Intron	p.A255A	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	833	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	255					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.765G>A	CCDS10985.1																																																																																				0.701	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		21	36	0	0	0	1	0	21	36					T	89764252	C	T	89764252	2	4	38	1	0	0	0	0	0	0	0	1	15061	639	23	1		1	SPATA2L	16	89764252	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	17631374	89764252	590501	127	4601											
SCARF1	8578	broad.mit.edu	37	chr17	1538332	1538332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggctgccctttttcCgattcagggcctggcgcgga	15	13	1	0	rs147642060	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:1538332C>T	ENST00000263071.4	-	11	2262	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	738	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTTTTCCGATTCAGGGC	0.632													C|||	6	0.00119808	0.0045	0.0	5008	,	,		16845	0.0		0.0	False		,,,				2504	0.0					ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2212-2214)cGg>cAg		scavenger receptor class F, member 1			GLN/ARG,,GLN/ARG	10,4396		0,10,2193	23	24	24		2213,,1955	2.5	0.9	17	dbSNP_134	24	1,8599		0,1,4299	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	43,,43	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	possibly-damaging,,possibly-damaging	738/831,,652/745	1538332	11,12995	2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538332C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2213G>A	17.37:g.1538332C>T	ENSP00000263071:p.Arg738Gln					SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR	p.R738Q	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2262	-			738			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2213G>A	CCDS11007.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	10.85	1.466182	0.26335	0.00227	1.16E-4	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.22539	1.95;2.62	4.89	2.46	0.29980	.	0.197318	0.25025	N	0.033728	T	0.17916	0.0430	M	0.63428	1.95	0.22918	N	0.998569	B;B	0.32781	0.384;0.145	B;B	0.26693	0.072;0.024	T	0.14227	-1.0480	10	0.26408	T	0.33	-6.2381	8.5352	0.33360	0.0:0.8531:0.0:0.1469	.	652;738	Q14162-2;Q14162	.;SREC_HUMAN	Q	738;652	ENSP00000263071:R738Q;ENSP00000323964:R652Q	ENSP00000263071:R738Q	R	-	2	0	SCARF1	1485082	0.995000	0.38212	0.865000	0.33974	0.372000	0.29890	0.814000	0.27239	0.257000	0.21650	0.550000	0.68814	CGG		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		17	86	0	0	0	1	0	17	86					T	1538332	C	T	1538332	3	4	38	1	0	0	0	0	1	0	0	0	13933	652	23	1	283	1	SCARF1	17	1538332	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		1538332	79656878	128	4602											
TP53	7157	broad.mit.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	8	18	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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)	ENST00000420246.2		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"		68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(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						c.e5+1	Other conserved DNA damage response genes	tumor protein p53							48	46	47					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578370C>T	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.559+1G>A	17.37:g.7578370C>T		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_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	73	95	0	0	0	1	0	73	95					T	7578370	C	T	7578370	5	4	38	1	0	0	0	0	0	0	1	0	16434	521	18	2	738	2	TP53	17	7578370	Splice_Site	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	6040038	7578370	73616840	129	4603											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		7	210						7	210	---	---	---	---	-	34071996	TCC	-	34071994	7	5	38	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-3A-A9J0-01A-11D-A40W-08	26493624	34071994	47123216	130	4604											
ERBB2	2064	broad.mit.edu	37	chr17	37863277	37863277	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaagctgcggctcccTgccagtcccgagacccacct	10	17	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:37863277T>A	ENST00000269571.5	+	2	267	c.108T>A	c.(106-108)ccT>ccA	p.P36P	ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000406381.2_Silent_p.P6P|ERBB2_ENST00000540042.1_Silent_p.P6P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	36					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGCGGCTCCCTGCCAGTCCCG	0.642		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(16-18)ccT>ccA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						43	38	39					17																	37863277		2202	4295	6497	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37863277T>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.108T>A	17.37:g.37863277T>A		TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.P6P|ERBB2_ENST00000269571.5_Silent_p.P36P	p.P6P	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	4	528	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	36					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.18T>A	CCDS32642.1																																																																																				0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			51	4463	0	0	0	1	0	51	4463					A	37863277	T	A	37863277	2	1	38	1	0	0	0	0	0	0	0	1	5224	1567	55	5		5	ERBB2	17	37863277	Silent	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	3791283	37863277	43331933	131	4605											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcactggggcttgcagcaGctggacacacagcagctggg	15	12	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		6	124	0	0	0	1	0	6	124					C	39254013	G	C	39254013	3	2	38	1	0	0	0	0	1	0	0	0	8587	962	34	5	237	5	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	1390736	39254013	41941197	132	4606											
MMD	23531	broad.mit.edu	37	chr17	53471706	53471706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagattggtcataaatgccGcataaagtccgtaggacttc	9	9	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:53471706G>A	ENST00000262065.3	-	7	1002	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	236					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATAAATGCCGCATAAAGTCC	0.458																																						ENST00000262065.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(706-708)Cgg>Tgg		monocyte to macrophage differentiation-associated							118	122	121					17																	53471706		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471706G>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.706C>T	17.37:g.53471706G>A	ENSP00000262065:p.Arg236Trp						p.R236W	NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN			7	1002	-			236					B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.706C>T	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647525	0.47258	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	5.08	0.68730	.	0.916312	0.09275	N	0.824547	T	0.43233	0.1238	L	0.36672	1.1	0.47153	D	0.999337	D	0.56287	0.975	B	0.33521	0.165	T	0.49331	-0.8951	9	0.72032	D	0.01	-16.4287	15.9549	0.79880	0.0:0.0:0.8643:0.1357	.	236	Q15546	PAQRB_HUMAN	W	236	.	ENSP00000262065:R236W	R	-	1	2	MMD	50826705	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.503000	0.53340	1.558000	0.49541	0.643000	0.83706	CGG		0.458	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			6	741	0	0	0	1	0	6	741					A	53471706	G	A	53471706	3	1	38	1	0	0	0	0	1	0	0	0	9684	1086	38	1	14	1	MMD	17	53471706	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	14217693	53471706	27723504	133	4607											
LIPG	9388	broad.mit.edu	37	chr18	47110141	47110141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctggggaaacccagcGgaagtaagtgcctcctgctc	13	11	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:47110141G>A	ENST00000261292.4	+	8	1651	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	458	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAACCCAGCGGAAGTAAGTG	0.562																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1372-1374)cGg>cAg		lipase, endothelial							26	24	25					18																	47110141		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110141G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1373G>A	18.37:g.47110141G>A	ENSP00000261292:p.Arg458Gln					LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	p.R458Q	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1651	+			458			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1373G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168290	0.38315	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.64438	-0.1;-0.1	5.6	-1.19	0.09585	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.314978	0.38381	N	0.001720	T	0.21509	0.0518	N	0.00885	-1.115	0.80722	D	1	B;B	0.20550	0.001;0.046	B;B	0.12837	0.001;0.008	T	0.11131	-1.0600	10	0.09084	T	0.74	-10.3611	7.2214	0.25990	0.6792:0.0:0.1813:0.1396	.	384;458	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	Q	458;384	ENSP00000261292:R458Q;ENSP00000387978:R384Q	ENSP00000261292:R458Q	R	+	2	0	LIPG	45364139	0.664000	0.27457	0.301000	0.25044	0.917000	0.54804	0.558000	0.23469	-0.126000	0.11682	0.561000	0.74099	CGG		0.562	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		3	42	0	0	0	1	0	3	42					A	47110141	G	A	47110141	3	1	38	1	0	0	0	0	1	0	0	0	8856	1116	39	1	1403	1	LIPG	18	47110141	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		47110141	30967107	134	4608											
TCF4	6925	broad.mit.edu	37	chr18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaggttctcatcaccctCgtcatcggatttgatctcag	8	12	4	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:52899837C>T	ENST00000356073.4	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000354452.3_Missense_Mutation_p.E518K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	518					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1552-1554)Gag>Aag		transcription factor 4							129	110	117					18																	52899837		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899837C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1552G>A	18.37:g.52899837C>T	ENSP00000348374:p.Glu518Lys					TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000356073.4_Missense_Mutation_p.E518K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K	p.E518K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2163	-			518					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1552G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745039	0.49151	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.18810	2.51;2.22;2.47;2.46;2.48;2.51;2.48;2.19;2.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.49640	1.575	0.80722	D	1	B;B;B;P;D;B;B;D;B	0.65815	0.038;0.172;0.065;0.919;0.992;0.038;0.038;0.995;0.371	B;B;B;B;P;B;B;D;B	0.68192	0.007;0.017;0.025;0.394;0.905;0.007;0.007;0.956;0.095	T	0.06826	-1.0805	10	0.02654	T	1	-15.4116	17.8399	0.88712	0.0:1.0:0.0:0.0	.	494;518;358;620;518;476;447;358;515	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	518;358;518;476;494;494;447;388;620	ENSP00000346440:E518K;ENSP00000409447:E358K;ENSP00000348374:E518K;ENSP00000439656:E476K;ENSP00000445202:E494K;ENSP00000440731:E494K;ENSP00000441562:E447K;ENSP00000439827:E388K;ENSP00000381382:E620K	ENSP00000346440:E518K	E	-	1	0	TCF4	51050835	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	3.845000	0.55880	2.510000	0.84645	0.467000	0.42956	GAG		0.468	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		49	125	0	0	0	1	0	49	125					T	52899837	C	T	52899837	3	4	38	1	0	0	0	0	1	0	0	0	15747	893	31	1	475	1	TCF4	18	52899837	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5789696	52899837	25177411	135	4609											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			10	549						10	549	---	---	---	---	-	55992286	TCC	-	55992284	7	5	38	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-3A-A9J0-01A-11D-A40W-08	3092447	55992284	22084964	136	4610											
KIAA1468	57614	broad.mit.edu	37	chr18	59912054	59912054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctgagcctaaagagcgaGatcagcttctccacatactt	7	12	2	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:59912054G>A	ENST00000398130.2	+	11	1910	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	RP11-173A16.2_ENST00000588561.1_RNA|KIAA1468_ENST00000256858.6_Missense_Mutation_p.D560N	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	560										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAAAGAGCGAGATCAGCTTCT	0.378																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1678-1680)Gat>Aat		KIAA1468							112	106	108					18																	59912054		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59912054G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1678G>A	18.37:g.59912054G>A	ENSP00000381198:p.Asp560Asn					KIAA1468_ENST00000398130.2_Missense_Mutation_p.D560N	p.D560N			Q9P260	K1468_HUMAN			11	1926	+		Colorectal(73;0.186)	560						Missense_Mutation	SNP	ENST00000398130.2	37	c.1678G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	34	5.334181	0.95758	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.39787	1.06;1.06	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	0.994;0.98;1.0	P;P;D	0.83275	0.895;0.753;0.996	T	0.57969	-0.7719	9	.	.	.	-19.5571	20.0051	0.97433	0.0:0.0:1.0:0.0	.	560;560;204	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	N	560	ENSP00000381198:D560N;ENSP00000256858:D560N	.	D	+	1	0	KIAA1468	58063034	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.715000	0.98748	2.799000	0.96334	0.650000	0.86243	GAT		0.378	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		60	118	0	0	0	1	0	60	118					A	59912054	G	A	59912054	3	1	38	1	0	0	0	0	1	0	0	0	8266	942	33	2	1720	2	KIAA1468	18	59912054	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	3919770	59912054	18165194	137	4611											
PHLPP1	23239	broad.mit.edu	37	chr18	60563163	60563163	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgactgctgtggataaacTttgtatgtctggaaactgtg	11	5	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:60563163T>G	ENST00000262719.5	+	6	2597	c.2363T>G	c.(2362-2364)cTt>cGt	p.L788R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L276R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	788					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GTGGATAAACTTTGTATGTCT	0.383																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(826-828)cTt>cGt		PH domain and leucine rich repeat protein phosphatase 1							118	112	114					18																	60563163		1852	4099	5951	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563163T>G	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2363T>G	18.37:g.60563163T>G	ENSP00000262719:p.Leu788Arg					PHLPP1_ENST00000262719.5_Missense_Mutation_p.L788R	p.L276R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			6	2608	+			788					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.827T>G	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709037	0.89018	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.59638	0.25;0.25	5.07	5.07	0.68467	.	.	.	.	.	T	0.81250	0.4783	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.86211	0.1625	9	0.87932	D	0	-10.6448	15.016	0.71584	0.0:0.0:0.0:1.0	.	788	O60346	PHLP1_HUMAN	R	276;788	ENSP00000383170:L276R;ENSP00000262719:L788R	ENSP00000262719:L788R	L	+	2	0	PHLPP1	58714143	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.489000	0.81451	2.146000	0.66826	0.533000	0.62120	CTT		0.383	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		45	109	0	0	0	1	0	45	109					G	60563163	T	G	60563163	3	3	38	1	0	0	0	0	1	0	0	0	11896	1609	56	4	2385	4	PHLPP1	18	60563163	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	651109	60563163	17514085	138	4612											
SERPINB10	5273	broad.mit.edu	37	chr18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A													caaatgtgaccctgaaagtgINSaaaaaaaaaggaaaatggta					rs201620640		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)aaafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10																																				SO:0001589	frameshift_variant	5273							g.chr18:61584738_61584739insA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.226dupA	18.37:g.61584747_61584747dupA	ENSP00000238508:p.Glu73fs						p.K73fs	NM_005024.1	NP_005015.1					3	276_277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Ins	INS	ENST00000238508.3	37	c.217_218insA	CCDS11990.1																																																																																				0.282	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		7	93						7	93	---	---	---	---	A	61584739	-	A	61584738	7	5	38	1	0	1	1	0	0	0	0	0	14147	1291	45	0	223	0	SERPINB10	18	61584738	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	1021575	61584738	16492510	139	4613											
C19orf21	126353	broad.mit.edu	37	chr19	758042	758042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgtgaggaagaccacCggcgggagggcctgcacgtg	17	12	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:758042C>T	ENST00000215582.6	+	2	1199	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	366					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGAAGACCACCGGCGGGAGGG	0.682																																						ENST00000215582.6																			0											c.(1096-1098)Cgg>Tgg		mitotic spindle positioning							12	15	14					19																	758042		2188	4290	6478	SO:0001583	missense	126353							g.chr19:758042C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1096C>T	19.37:g.758042C>T	ENSP00000215582:p.Arg366Trp						p.R366W	NM_173481.2	NP_775752.1					2	1199	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1096C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944631	0.73672	.	.	ENSG00000099812	ENST00000215582	T	0.41065	1.01	4.54	3.51	0.40186	.	0.300521	0.25692	N	0.028922	T	0.46560	0.1399	M	0.64997	1.995	0.35749	D	0.819325	D	0.55172	0.97	P	0.50970	0.655	T	0.59241	-0.7491	10	0.87932	D	0	-13.4379	7.0902	0.25279	0.1687:0.7392:0.0:0.0921	.	366	Q8IVT2	CS021_HUMAN	W	366	ENSP00000215582:R366W	ENSP00000215582:R366W	R	+	1	2	C19orf21	709042	0.001000	0.12720	0.685000	0.30070	0.914000	0.54420	0.072000	0.14617	1.038000	0.40049	0.491000	0.48974	CGG		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		21	34	0	0	0	1	0	21	34					T	758042	C	T	758042	3	4	38	1	0	0	0	0	1	0	0	0	1920	643	23	1	1098	1	C19orf21	19	758042	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		758042	58370941	140	4614											
FBN3	84467	broad.mit.edu	37	chr19	8180474	8180474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaacccttcgtgttctCgcagtccccatggaggcaga	11	12	1	1	rs146523311		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:8180474C>T	ENST00000600128.1	-	30	4177	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K			Q75N90	FBN3_HUMAN	fibrillin 3	1255	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCGTGTTCTCGCAGTCCCCA	0.607																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3763-3765)Gag>Aag		fibrillin 3		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	88	69	76		3763	1.8	0.7	19	dbSNP_134	76	0,8600		0,0,4300	no	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1255/2810	8180474	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8180474C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3763G>A	19.37:g.8180474C>T	ENSP00000470498:p.Glu1255Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K	p.E1255K			Q75N90	FBN3_HUMAN			30	4177	-			1255			EGF-like 18; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3763G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300009	0.23650	2.27E-4	0.0	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	3.94	1.81	0.25067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.056825	0.64402	U	0.000002	T	0.76807	0.4039	L	0.37750	1.13	0.53688	D	0.999971	P	0.35050	0.482	B	0.29440	0.102	T	0.68131	-0.5490	10	0.28530	T	0.3	.	9.5212	0.39135	0.0:0.8225:0.0:0.1775	.	1255	Q75N90	FBN3_HUMAN	K	1255	ENSP00000270509:E1255K	ENSP00000270509:E1255K	E	-	1	0	FBN3	8086474	0.991000	0.36638	0.727000	0.30756	0.091000	0.18340	2.896000	0.48656	0.349000	0.23975	-0.254000	0.11334	GAG		0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		32	109	0	0	0	1	0	32	109					T	8180474	C	T	8180474	3	4	38	1	0	0	0	0	1	0	0	0	5729	893	31	1	4806	1	FBN3	19	8180474	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	7422432	8180474	50948509	141	4615											
OR7G1	125962	broad.mit.edu	37	chr19	9225729	9225729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagccacaggtggaaaaCgctttatactttcctcttgc	8	11	1	1	rs138779373	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9225729C>T	ENST00000541538.1	-	1	710	c.711G>A	c.(709-711)gcG>gcA	p.A237A	OR7G1_ENST00000293614.1_Silent_p.A237A	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGGTGGAAAACGCTTTATACT	0.418																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(709-711)gcG>gcA		olfactory receptor, family 7, subfamily G, member 1							94	95	95					19																	9225729		2203	4300	6503	SO:0001819	synonymous_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9225729C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.711G>A	19.37:g.9225729C>T						OR7G1_ENST00000541538.1_Silent_p.A237A	p.A237A			Q8NGA0	OR7G1_HUMAN			1	710	-			237					Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	c.711G>A	CCDS32898.2																																																																																				0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			59	175	0	0	0	1	0	59	175					T	9225729	C	T	9225729	2	4	38	1	0	0	0	0	0	0	0	1	11264	523	19	1		1	OR7G1	19	9225729	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1045255	9225729	49903254	142	4616											
ZNF562	54811	broad.mit.edu	37	chr19	9764114	9764114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagtgaaggatttcccacaGttcttagtcttttcggattt	8	7	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9764114G>T	ENST00000448622.1	-	6	954	c.792C>A	c.(790-792)aaC>aaA	p.N264K	ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K|ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCACAGTTCTTAGTCT	0.378																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(790-792)aaC>aaA		zinc finger protein 562							84	82	83					19																	9764114		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764114G>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.792C>A	19.37:g.9764114G>T	ENSP00000411784:p.Asn264Lys					ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K	p.N264K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	954	-			264					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.792C>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	0.658	-0.806919	0.02819	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.06768	3.28;3.28;3.35;3.26;3.36;3.38	1.67	-3.33	0.04958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.02412	-0.56	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.39643	-0.9604	9	0.54805	T	0.06	.	1.739	0.02948	0.1587:0.1235:0.163:0.5548	.	148;263;227;264;192	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	K	264;264;192;227;195;148	ENSP00000410734:N264K;ENSP00000411784:N264K;ENSP00000293648:N192K;ENSP00000442614:N227K;ENSP00000440451:N195K;ENSP00000445816:N148K	ENSP00000293648:N192K	N	-	3	2	ZNF562	9625114	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.367000	0.00069	-1.457000	0.01919	-3.756000	0.00021	AAC		0.378	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		19	325	1	0	1.16021e-09	1	1.25146e-09	19	325					T	9764114	G	T	9764114	3	4	38	1	0	0	0	0	1	0	0	0	18046	1020	36	3	492	3	ZNF562	19	9764114	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	538385	9764114	49364869	143	4617											
ZNF181	339318	broad.mit.edu	37	chr19	35232318	35232318	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctaagaattcatacTcaagaaaaactctatgagtg	6	7	4	3	rs2607243		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:35232318T>G	ENST00000492450.1	+	4	1121	c.1032T>G	c.(1030-1032)acT>acG	p.T344T	ZNF181_ENST00000392232.3_Silent_p.T388T|ZNF181_ENST00000459757.2_Silent_p.T343T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1162-1164)acT>acG		zinc finger protein 181							69	69	69					19																	35232318		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232318T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1032T>G	19.37:g.35232318T>G						ZNF181_ENST00000492450.1_Silent_p.T344T|ZNF181_ENST00000459757.1_Silent_p.T343T	p.T388T			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1332	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		344					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1164T>G	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		6	307	0	0	0	1	0	6	307					G	35232318	T	G	35232318	2	3	38	1	0	0	0	0	0	0	0	1	17802	1538	54	4		4	ZNF181	19	35232318	Silent	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	25468204	35232318	23896665	144	4618											
KLK15	55554	broad.mit.edu	37	chr19	51330356	51330356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacccgagacgtggtccGtagttgctctgggccatcgc	13	12	1	2	rs61751959	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:51330356G>A	ENST00000598239.1	-	3	289	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000326856.4_Missense_Mutation_p.R86W|KLK15_ENST00000416184.1_Missense_Mutation_p.R87W|KLK15_ENST00000596931.1_Missense_Mutation_p.R86W	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACGTGGTCCGTAGTTGCTCT	0.652																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(256-258)Cgg>Tgg		kallikrein-related peptidase 15		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	82	70	74		259,259,259	-0.5	0	19	dbSNP_129	74	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	101,101,101	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	probably-damaging,probably-damaging,probably-damaging	87/257,87/162,87/172	51330356	8,12998	2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330356G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.259C>T	19.37:g.51330356G>A	ENSP00000469315:p.Arg87Trp					KLK15_ENST00000416184.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000598239.1_Missense_Mutation_p.R87W|KLK15_ENST00000596931.1_Missense_Mutation_p.R86W	p.R86W	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	385	-		all_neural(266;0.057)	87			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.256C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671049	0.67814	4.54E-4	6.98E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93712	-3.27;-3.27	4.51	-0.491	0.12045	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.354502	0.20216	N	0.096801	D	0.96519	0.8864	M	0.90814	3.15	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	P;D;D;D	0.70016	0.892;0.93;0.94;0.967	D	0.92113	0.5697	10	0.87932	D	0	.	13.1286	0.59369	0.0:0.0:0.296:0.704	rs61751959	87;86;87;87	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	W	87	ENSP00000415136:R87W;ENSP00000301421:R87W	ENSP00000301421:R87W	R	-	1	2	KLK15	56022168	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	0.668000	0.25127	-0.033000	0.13736	-0.268000	0.10319	CGG		0.652	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		79	372	0	0	0	1	0	79	372					A	51330356	G	A	51330356	3	1	38	1	0	0	0	0	1	0	0	0	8433	1144	40	1	523	1	KLK15	19	51330356	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	16098038	51330356	7798627	145	4619											
LILRA1	11024	broad.mit.edu	37	chr19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgggaacacacagggCggtatcgctgtttctacggt	12	11	2	0	rs372024491	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55106342C>T	ENST00000251372.3	+	4	465	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R95W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572													c|||	2	0.000399361	0.0	0.0	5008	,	,		19200	0.0		0.0	False		,,,				2504	0.002					ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(283-285)Cgg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		C	TRP/ARG	0,4406		0,0,2203	121	115	117		283	-1.3	0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	LILRA1	NM_006863.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	95/490	55106342	1,13005	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106342C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.283C>T	19.37:g.55106342C>T	ENSP00000251372:p.Arg95Trp					LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	p.R95W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	453	+			95			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.283C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823541	0.16678	0.0	1.16E-4	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.13778	2.56;2.56	1.58	-1.3	0.09259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.639860	0.04121	N	0.316290	T	0.19604	0.0471	M	0.86740	2.835	0.09310	N	1	B;P	0.38440	0.097;0.631	B;B	0.32805	0.03;0.153	T	0.37842	-0.9688	10	0.72032	D	0.01	.	5.5529	0.17101	0.6042:0.3958:0.0:0.0	.	95;95	O75019-2;O75019	.;LIRA1_HUMAN	W	95	ENSP00000251372:R95W;ENSP00000413715:R95W	ENSP00000251372:R95W	R	+	1	2	LILRA1	59798154	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.728000	0.04925	-0.245000	0.09625	0.194000	0.17425	CGG		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		87	312	0	0	0	1	0	87	312					T	55106342	C	T	55106342	3	4	38	1	0	0	0	0	1	0	0	0	8816	759	27	1	293	1	LILRA1	19	55106342	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3775986	55106342	4022641	146	4620											
NLRP7	199713	broad.mit.edu	37	chr19	55450945	55450945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcggccaggaggctcagCgtccgcagcgcgccccgcag	16	17	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55450945C>T	ENST00000590030.1	-	3	1282	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000588756.1_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1324-1326)acG>acA		NLR family, pyrin domain containing 7							16	14	15					19																	55450945		2167	4243	6410	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450945C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1242G>A	19.37:g.55450945C>T						NLRP7_ENST00000340844.2_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T	p.T442T			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1728	-			414			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1326G>A	CCDS33109.1																																																																																				0.711	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		39	77	0	0	0	1	0	39	77					T	55450945	C	T	55450945	2	4	38	1	0	0	0	0	0	0	0	1	10524	755	27	1		1	NLRP7	19	55450945	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	344603	55450945	3678038	147	4621											
SYT5	6861	broad.mit.edu	37	chr19	55690401	55690401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggggttgggggctcCgggaacatggtggcggggtc	22	10	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55690401C>T	ENST00000354308.3	-	2	378	c.9G>A	c.(7-9)ccG>ccA	p.P3P	SYT5_ENST00000537500.1_Silent_p.P3P|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.R58Q	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	3					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTGGGGGCTCCGGGAACATGG	0.677																																						ENST00000590851.1																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(172-174)cGg>cAg		synaptotagmin V							19	27	24					19																	55690401		2201	4297	6498	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55690401C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.9G>A	19.37:g.55690401C>T						SYT5_ENST00000354308.3_Silent_p.P3P|SYT5_ENST00000537500.1_Silent_p.P3P	p.R58Q			O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	357	-			0					B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.173G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966705	0.18659	.	.	ENSG00000129990	ENST00000543844	.	.	.	3.54	1.3	0.21679	.	.	.	.	.	T	0.23649	0.0572	.	.	.	0.80722	D	1	B	0.34372	0.451	B	0.18871	0.023	T	0.05178	-1.0901	7	0.27785	T	0.31	.	3.9386	0.09316	0.2358:0.6379:0.0:0.1263	.	58	B7Z300	.	Q	58	.	ENSP00000441336:R58Q	R	-	2	0	SYT5	60382213	0.974000	0.33945	1.000000	0.80357	0.304000	0.27724	-0.295000	0.08298	0.450000	0.26774	0.558000	0.71614	CGG		0.677	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		5	49	0	0	0	1	0	5	49					T	55690401	C	T	55690401	2	4	38	1	0	0	0	0	0	0	0	1	15529	639	23	1		1	SYT5	19	55690401	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	239456	55690401	3438582	148	4622											
FASTKD5	60493	broad.mit.edu	37	chr20	3128938	3128938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaaaaatgtttaaaaacCtaggtactttgcggcctaag	8	6	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:3128938C>T	ENST00000380266.3	-	2	1100	c.779G>A	c.(778-780)aGg>aAg	p.R260K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	260					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTTAAAAACCTAGGTACTTT	0.398																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(778-780)aGg>aAg		FAST kinase domains 5							43	46	45					20																	3128938		2199	4300	6499	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128938C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.779G>A	20.37:g.3128938C>T	ENSP00000369618:p.Arg260Lys					UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.R260K	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1100	-			260					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.779G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.223539	0.01530	.	.	ENSG00000215251	ENST00000380266	T	0.14391	2.51	5.77	3.84	0.44239	.	0.385251	0.24361	N	0.039183	T	0.06781	0.0173	N	0.17082	0.46	0.09310	N	1	B	0.26195	0.144	B	0.19148	0.024	T	0.36915	-0.9728	10	0.10111	T	0.7	.	8.6173	0.33840	0.0:0.7197:0.1364:0.1439	.	260	Q7L8L6	FAKD5_HUMAN	K	260	ENSP00000369618:R260K	ENSP00000369618:R260K	R	-	2	0	FASTKD5	3076938	0.693000	0.27728	0.998000	0.56505	0.099000	0.18886	0.884000	0.28214	1.443000	0.47586	0.460000	0.39030	AGG		0.398	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		41	272	0	0	0	1	0	41	272					T	3128938	C	T	3128938	3	4	38	1	0	0	0	0	1	0	0	0	5713	681	24	2	1519	2	FASTKD5	20	3128938	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		3128938	59896582	149	4623											
MYH7B	57644	broad.mit.edu	37	chr20	33586211	33586212	+	Frame_Shift_Del	DEL	AC	AC	-													agcacgcagcgtgggcgactAcagacggaaagcggtgaggc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:33586211_33586212delAC	ENST00000262873.7	+	31	4079_4080	c.3987_3988delAC	c.(3985-3990)ctacagfs	p.Q1330fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1288						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGGGCGACTACAGACGGAAAG	0.649																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3985-3990)ctagfs		myosin, heavy chain 7B, cardiac muscle, beta																																				SO:0001589	frameshift_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586211_33586212delAC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3987_3988delAC	20.37:g.33586211_33586212delAC	ENSP00000262873:p.Gln1330fs						p.LQ1329fs	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		31	4079_4080	+			1287					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	ENST00000262873.7	37	c.3987_3988delAC	CCDS42869.1																																																																																				0.649	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		79	392						79	392	---	---	---	---	-	33586212	AC	-	33586211	7	5	38	1	0	1	0	1	0	0	0	0	10081	378	14	0	4109	0	MYH7B	20	33586211	Frame_Shift_Del	DEL	AC	TCGA-3A-A9J0-01A-11D-A40W-08	30457273	33586211	29439309	150	4624											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536753	37536753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggccatcctgtggcagCggagtgcagctgaggatcag	17	9	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:37536753C>T	ENST00000299824.1	+	10	1300	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	371					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTGTGGCAGCGGAGTGCAGC	0.602																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1111-1113)Cgg>Tgg		protein phosphatase 1, regulatory subunit 16B							110	95	100					20																	37536753		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536753C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1111C>T	20.37:g.37536753C>T	ENSP00000299824:p.Arg371Trp					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	p.R371W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			10	1300	+		Myeloproliferative disorder(115;0.00878)	371					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1111C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814832	0.70912	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.71103	-0.41;-0.54	5.26	3.2	0.36748	.	0.204892	0.41938	D	0.000796	T	0.66317	0.2777	L	0.36672	1.1	0.27630	N	0.948065	D;D	0.71674	0.998;0.995	P;P	0.51657	0.613;0.676	T	0.61247	-0.7101	10	0.72032	D	0.01	.	8.6451	0.34000	0.3461:0.5789:0.0:0.075	.	329;371	E9PFS8;Q96T49	.;PP16B_HUMAN	W	371;329	ENSP00000299824:R371W;ENSP00000362428:R329W	ENSP00000299824:R371W	R	+	1	2	PPP1R16B	36970167	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.866000	0.27954	1.476000	0.48215	0.644000	0.83932	CGG		0.602	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		39	228	0	0	0	1	0	39	228					T	37536753	C	T	37536753	3	4	38	1	0	0	0	0	1	0	0	0	12413	759	27	1	1145	1	PPP1R16B	20	37536753	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3950542	37536753	25488767	151	4625											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	17	4	0	5			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164	128	140					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			5	105	0	0	0	1	0	5	105					T	44258532	A	T	44258532	3	4	38	1	0	0	0	0	1	0	0	0	17401	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	6721779	44258532	18766988	152	4626											
SLC12A5	57468	broad.mit.edu	37	chr20	44685140	44685142	+	In_Frame_Del	DEL	AGA	AGA	-													caaggacaagtcggtggcagAgaagaataagggccccagtc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44685140_44685142delAGA	ENST00000454036.2	+	23	3165_3167	c.3116_3118delAGA	c.(3115-3120)gagaag>gag	p.K1040del	SLC12A5_ENST00000243964.3_In_Frame_Del_p.K1017del	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1040					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGGTGGCAGAGAAGAATAAGGG	0.635																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3115-3120)gag>g		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001651	inframe_deletion	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685140_44685142delAGA	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3116_3118delAGA	20.37:g.44685143_44685145delAGA	ENSP00000387694:p.Lys1040del					SLC12A5_ENST00000243964.3_In_Frame_Del_p.EK1016del	p.EK1039del	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			23	3192_3194	+		Myeloproliferative disorder(115;0.0122)	1039					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	In_Frame_Del	DEL	ENST00000454036.2	37	c.3116_3118delAGA	CCDS46610.1																																																																																				0.635	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			24	228						24	228	---	---	---	---	-	44685142	AGA	-	44685140	7	5	38	1	0	1	0	1	0	0	0	0	14436	304	11	0	3262	0	SLC12A5	20	44685140	In_Frame_Del	DEL	AGA	TCGA-3A-A9J0-01A-11D-A40W-08	426608	44685140	18340380	153	4627											
ARFGEF2	10564	broad.mit.edu	37	chr20	47569336	47569336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaatatctatttggccaGcaaaaatctcatcaatcaaa	3	9	4	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:47569336G>A	ENST00000371917.4	+	5	518	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	173	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATTTGGCCAGCAAAAATCTC	0.443																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(517-519)aGc>aAc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							144	128	134					20																	47569336		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47569336G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.518G>A	20.37:g.47569336G>A	ENSP00000360985:p.Ser173Asn						p.S173N	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		5	518	+			173					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.518G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522113	0.96416	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.33654	1.4	6.06	6.06	0.98353	Armadillo-type fold (1);	0.079509	0.85682	D	0.000000	T	0.74366	0.3707	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81656	-0.0834	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	173	Q9Y6D5	BIG2_HUMAN	N	173	ENSP00000360985:S173N	ENSP00000360985:S173N	S	+	2	0	ARFGEF2	47002743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.882000	0.98803	0.655000	0.94253	AGC		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	556	0	0	0	1	0	5	556					A	47569336	G	A	47569336	3	1	38	1	0	0	0	0	1	0	0	0	853	971	34	2	536	2	ARFGEF2	20	47569336	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	2884196	47569336	15456184	154	4628											
DSCAM	1826	broad.mit.edu	37	chr21	41710288	41710288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgatgtttttcattggtCgaatgcttgcaggccctgga	12	8	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:41710288C>T	ENST00000400454.1	-	8	2000	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	508	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATTGGTCGAATGCTTGC	0.403																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1522-1524)cGa>cAa		Down syndrome cell adhesion molecule							142	132	135					21																	41710288		1906	4132	6038	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710288C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1523G>A	21.37:g.41710288C>T	ENSP00000383303:p.Arg508Gln						p.R508Q	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2000	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	508			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1523G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256495	0.95336	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.64260	-0.09;-0.09	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75042	0.3796	L	0.50847	1.595	0.53688	D	0.999972	D	0.76494	0.999	D	0.68192	0.956	T	0.70963	-0.4729	10	0.35671	T	0.21	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	508	O60469	DSCAM_HUMAN	Q	508;260	ENSP00000383303:R508Q;ENSP00000385342:R260Q	ENSP00000383303:R508Q	R	-	2	0	DSCAM	40632158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.656000	0.83736	2.724000	0.93272	0.655000	0.94253	CGA		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		57	88	0	0	0	1	0	57	88					T	41710288	C	T	41710288	3	4	38	1	0	0	0	0	1	0	0	0	4784	884	31	1	4619	1	DSCAM	21	41710288	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		41710288	6419607	155	4629											
COL6A2	1292	broad.mit.edu	37	chr21	47545822	47545822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacctcgagtggattgCgggcggcacctggacaccct	13	13	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:47545822C>T	ENST00000300527.4	+	26	2197	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	698	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGTGGATTGCGGGCGGCACC	0.602																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2092-2094)gCg>gTg		collagen, type VI, alpha 2							76	69	71					21																	47545822		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545822C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2093C>T	21.37:g.47545822C>T	ENSP00000300527:p.Ala698Val					COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V	p.A698V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2197	+	Breast(49;0.245)		698			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2093C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559002	0.65538	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.21	4.21	0.49690	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89107	0.3493	10	0.72032	D	0.01	-18.7532	16.5536	0.84479	0.0:1.0:0.0:0.0	.	698;698;698	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	V	698	ENSP00000300527:A698V;ENSP00000350497:A698V;ENSP00000312529:A698V;ENSP00000387115:A698V;ENSP00000380870:A698V	ENSP00000300527:A698V	A	+	2	0	COL6A2	46370250	1.000000	0.71417	0.030000	0.17652	0.733000	0.41908	7.562000	0.82300	1.889000	0.54706	0.491000	0.48974	GCG		0.602	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			37	106	0	0	0	1	0	37	106					T	47545822	C	T	47545822	3	4	38	1	0	0	0	0	1	0	0	0	3709	768	27	1	2191	1	COL6A2	21	47545822	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5835534	47545822	584073	156	4630											
PPM1F	9647	broad.mit.edu	37	chr22	22277807	22277807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcccgggaagctgcatcGgcctccccagacacgtaggg	14	15	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:22277807G>A	ENST00000263212.5	-	8	1128	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000407142.1_Silent_p.A173A	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	341					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAGCTGCATCGGCCTCCCCAG	0.632																																						ENST00000407142.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(517-519)gcC>gcT		protein phosphatase, Mg2+/Mn2+ dependent, 1F							40	45	43					22																	22277807		2203	4300	6503	SO:0001819	synonymous_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277807G>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1023C>T	22.37:g.22277807G>A						PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000263212.5_Silent_p.A341A	p.A173A			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	6	1579	-	Colorectal(54;0.105)		341					A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	c.519C>T	CCDS13796.1																																																																																				0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		46	150	0	0	0	1	0	46	150					A	22277807	G	A	22277807	2	1	38	1	0	0	0	0	0	0	0	1	12386	1103	39	1		1	PPM1F	22	22277807	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		22277807	29026759	157	4631											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143	145	144					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		7	900						7	900	---	---	---	---	-	30050682	T	-	30050682	7	5	38	1	0	1	0	1	0	0	0	0	10399	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-3A-A9J0-01A-11D-A40W-08	7772875	30050682	21253884	158	4632											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722767	30722767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagagagctgagttcgtcgGtggttgcggcgtcggggccc	19	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:30722767G>A	ENST00000215790.7	-	1	268	c.104C>T	c.(103-105)aCc>aTc	p.T35I	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	35					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGTTCGTCGGTGGTTGCGGC	0.711																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(103-105)aCc>aTc		TBC1 domain family, member 10A							24	30	28					22																	30722767		2200	4292	6492	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722767G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.104C>T	22.37:g.30722767G>A	ENSP00000215790:p.Thr35Ile					TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR	p.T35I	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			1	268	-			35					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.104C>T	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535300	0.45176	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.18174	2.23;3.53	4.13	3.1	0.35709	.	0.783594	0.11519	N	0.555865	T	0.09730	0.0239	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12682	-1.0538	10	0.38643	T	0.18	.	6.2359	0.20762	0.1066:0.1878:0.7056:0.0	.	35;35;35	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	I	35	ENSP00000215790:T35I;ENSP00000384996:T35I	ENSP00000215790:T35I	T	-	2	0	TBC1D10A	29052767	0.815000	0.29118	0.337000	0.25536	0.754000	0.42855	1.587000	0.36622	0.843000	0.35070	0.430000	0.28490	ACC		0.711	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		42	246	0	0	0	1	0	42	246					A	30722767	G	A	30722767	3	1	38	1	0	0	0	0	1	0	0	0	15650	1261	44	2	1458	2	TBC1D10A	22	30722767	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	672085	30722767	20581799	159	4633											
TMEM47	83604	broad.mit.edu	37	chrX	34657384	34657384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaaaaagcatgaccGcaacaggtctatagaaacgc	9	11	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:34657384G>A	ENST00000275954.3	-	2	605	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	116						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGCATGACCGCAACAGGTCT	0.443																																						ENST00000275954.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(346-348)gCg>gTg		transmembrane protein 47							65	53	57					X																	34657384		2201	4297	6498	SO:0001583	missense	83604					integral to membrane		g.chrX:34657384G>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.347C>T	X.37:g.34657384G>A	ENSP00000275954:p.Ala116Val						p.A116V	NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN			2	605	-			116					Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	c.347C>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638349	0.87760	.	.	ENSG00000147027	ENST00000275954	T	0.69926	-0.44	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82625	-0.0365	10	0.66056	D	0.02	-7.661	17.3961	0.87445	0.0:0.0:1.0:0.0	.	116	Q9BQJ4	TMM47_HUMAN	V	116	ENSP00000275954:A116V	ENSP00000275954:A116V	A	-	2	0	TMEM47	34567305	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	9.476000	0.97823	2.321000	0.78463	0.538000	0.68166	GCG		0.443	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		3	27	0	0	0	1	0	3	27					A	34657384	G	A	34657384	3	1	38	1	0	0	0	0	1	0	0	0	16223	1087	38	1	206	1	TMEM47	23	34657384	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		34657384	120613176	160	4634											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		7	10						7	10	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	38	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	14550911	49208295	106062265	161	4635											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	111						9	111	---	---	---	---	-	72433666	TCC	-	72433664	7	5	38	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-3A-A9J0-01A-11D-A40W-08	23225369	72433664	82836896	162	4636											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968431	4968431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggaaacagagtcacactaGaccttcctattgatctagaa	7	9	2	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrY:4968431G>C	ENST00000333703.4	+	5	3292	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	938					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCACACTAGACCTTCCTAT	0.428																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2779-2781)Gac>Cac		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968431G>C	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2779G>C	Y.37:g.4968431G>C	ENSP00000330552:p.Asp927His					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H	p.D927H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3292	+			938					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2779G>C	CCDS14776.1																																																																																				0.428	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		71	85	0	0	0	1	0	71	85					C	4968431	G	C	4968431	3	2	38	1	0	0	0	0	1	0	0	0	11551	942	33	5	2854	5	PCDH11Y	24	4968431	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		4968431	54405135	163	4637											
PRDM16	63976	broad.mit.edu	37	chr1	3331138	3331138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcagggtagaaaagcGgaaggtcacagaccccgtgg	15	10	1	2	rs184929979		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:3331138G>A	ENST00000270722.5	+	10	2667	c.2618G>A	c.(2617-2619)cGg>cAg	p.R873Q	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R873Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	873	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTAGAAAAGCGGAAGGTCACA	0.687			T	EVI1	"MDS, AML"								G|||	1	0.000199681	0.0	0.0014	5008	,	,		13232	0.0		0.0	False		,,,				2504	0.0					ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2617-2619)cGg>cAg		PR domain containing 16							45	57	53					1																	3331138		1953	4136	6089	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3331138G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2618G>A	1.37:g.3331138G>A	ENSP00000270722:p.Arg873Gln					PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R873Q|PRDM16_ENST00000512462.1_3'UTR	p.R873Q			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	11	2700	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	873			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2618G>A	CCDS41236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.594815	0.96602	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06608	3.35;3.32;3.33;3.33;3.37;3.32;3.39;3.34;3.28	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000277	T	0.23330	0.0564	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.79108	0.992;0.955;0.965;0.903	T	0.00498	-1.1704	10	0.46703	T	0.11	.	18.1398	0.89636	0.0:0.0:1.0:0.0	.	873;873;872;872	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	874;873;872;872;873;873;873;689;689;681	ENSP00000426975:R874Q;ENSP00000367651:R873Q;ENSP00000407968:R872Q;ENSP00000405253:R872Q;ENSP00000367643:R873Q;ENSP00000421400:R873Q;ENSP00000270722:R873Q;ENSP00000422504:R689Q;ENSP00000425796:R681Q	ENSP00000270722:R873Q	R	+	2	0	PRDM16	3320998	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.341000	0.97041	2.281000	0.76405	0.511000	0.50034	CGG		0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		4	89	0	0	0	1	0	4	89					A	3331138	G	A	3331138	3	1	39	1	0	0	0	0	1	0	0	0	12504	1116	39	1	2656	1	PRDM16	1	3331138	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		3331138	245919483	1	4638											
HP1BP3	50809	broad.mit.edu	37	chr1	21071440	21071440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggtcttcttggcaggCgttttggccttaggaggtgc	16	8	3	0	rs144814158		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:21071440C>T	ENST00000312239.5	-	13	1651	c.1512G>A	c.(1510-1512)acG>acA	p.T504T	RP5-930J4.4_ENST00000413451.1_RNA|HP1BP3_ENST00000375003.2_Silent_p.T352T	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	504	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTGGCAGGCGTTTTGGCCT	0.527																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(1054-1056)acG>acA		heterochromatin protein 1, binding protein 3		C		0,4406		0,0,2203	123	115	118		1512	-0.9	1	1	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HP1BP3	NM_016287.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		504/554	21071440	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071440C>T	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1512G>A	1.37:g.21071440C>T						HP1BP3_ENST00000312239.5_Silent_p.T504T	p.T352T			Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	9	2556	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	504			H15 3.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	c.1056G>A	CCDS30621.1																																																																																				0.527	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		12	334	0	0	0	1	0	12	334					T	21071440	C	T	21071440	2	4	39	1	0	0	0	0	0	0	0	1	7358	755	27	1		1	HP1BP3	1	21071440	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	17740302	21071440	228179181	2	4639											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		8	563						8	563	---	---	---	---	-	38166151	GAA	-	38166149	7	5	39	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-3E-AAAY-01A-11D-A38G-08	17094709	38166149	211084472	3	4640											
TAL1	6886	broad.mit.edu	37	chr1	47685731	47685731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgagcttcttgtcCgggggatgtgtggggatcag	16	7	3	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:47685731C>T	ENST00000294339.3	-	4	1233	c.657G>A	c.(655-657)ccG>ccA	p.P219P	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000371883.3_Silent_p.P221P	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	219	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTCTTGTCCGGGGGATGTG	0.587			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																	ENST00000371883.3				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"TRD@, SIL"		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(661-663)ccG>ccA		T-cell acute lymphocytic leukemia 1							65	63	64					1																	47685731		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685731C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.657G>A	1.37:g.47685731C>T						TAL1_ENST00000294339.3_Silent_p.P219P|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.P219P	p.P221P			P17542	TAL1_HUMAN			4	1239	-			219			Helix-loop-helix motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.663G>A	CCDS547.1																																																																																				0.587	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		21	306	0	0	0	1	0	21	306					T	47685731	C	T	47685731	2	4	39	1	0	0	0	0	0	0	0	1	15593	639	23	1		1	TAL1	1	47685731	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	9519582	47685731	201564890	4	4641											
FGGY	55277	broad.mit.edu	37	chr1	60106978	60106978	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatatctgtatattccGgctttggcagcgttgcactc	10	10	1	0	rs201842494		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:60106978G>A	ENST00000303721.7	+	11	1395				FGGY_ENST00000371210.1_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Silent_p.P416P|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGTATATTCCGGCTTTGGCAG	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		17801	0.001		0.0	False		,,,				2504	0.0					ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1246-1248)ccG>ccA		FGGY carbohydrate kinase domain containing							93	88	90					1																	60106978		1560	3582	5142	SO:0001627	intron_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60106978G>A		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1221+2931G>A	1.37:g.60106978G>A						FGGY_ENST00000303721.7_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371210.1_Intron	p.P416P	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			12	1432	+	all_cancers(7;7.36e-05)		407					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.1248G>A	CCDS611.2																																																																																				0.368	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		4	144	0	0	0	1	0	4	144					A	60106978	G	A	60106978	1	1	39	0	1	0	0	0	0	0	0	0	5896	1103	39	1		1	FGGY	1	60106978	Intron	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	12421247	60106978	189143643	5	4642											
C1orf92	149499	broad.mit.edu	37	chr1	156897574	156897574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccctggcccacaaccGcatccaggacaagggcgccc	11	18	0	0	rs538926687		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:156897574G>A	ENST00000337428.7	+	8	1026	c.872G>A	c.(871-873)cGc>cAc	p.R291H	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	291										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GCCCACAACCGCATCCAGGAC	0.716											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(871-873)cGc>cAc		leucine rich repeat containing 71							24	30	28					1																	156897574		1970	4154	6124	SO:0001583	missense	149499							g.chr1:156897574G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.872G>A	1.37:g.156897574G>A	ENSP00000336661:p.Arg291His		OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.R291H	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			8	1026	+			291					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.872G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452069	0.43531	.	.	ENSG00000160838	ENST00000337428	T	0.54279	0.58	4.48	3.55	0.40652	.	0.126973	0.36444	N	0.002599	T	0.16214	0.0390	N	0.21448	0.665	0.28290	N	0.923597	B;B	0.16603	0.008;0.018	B;B	0.09377	0.001;0.004	T	0.12293	-1.0553	10	0.27082	T	0.32	-12.9461	8.9158	0.35581	0.1089:0.0:0.8911:0.0	.	291;76	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	H	291	ENSP00000336661:R291H	ENSP00000336661:R291H	R	+	2	0	LRRC71	155164198	0.957000	0.32711	1.000000	0.80357	0.971000	0.66376	1.585000	0.36600	1.061000	0.40601	0.555000	0.69702	CGC		0.716	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		5	184	0	0	0	1	0	5	184					A	156897574	G	A	156897574	3	1	39	1	0	0	0	0	1	0	0	0	2076	1087	38	1	902	1	C1orf92	1	156897574	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	96790596	156897574	92353047	6	4643											
PTPN14	5784	broad.mit.edu	37	chr1	214557727	214557727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaggggtgcctctcccGcatctccggttggctgtaca	13	12	2	0	rs138557012	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:214557727G>A	ENST00000366956.5	-	13	1665	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTCTCCCGCATCTCCGGT	0.527													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18704	0.0		0.002	False		,,,				2504	0.0				Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1471-1473)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	145	153	151		1471	3.5	1	1	dbSNP_134	151	14,8586	9.8+/-36.6	0,14,4286	yes	missense	PTPN14	NM_005401.4	101	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging	491/1188	214557727	16,12990	2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557727G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1471C>T	1.37:g.214557727G>A	ENSP00000355923:p.Arg491Trp					PTPN14_ENST00000543945.1_3'UTR	p.R491W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1665	-			491					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1471C>T	CCDS1514.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.68	3.450452	0.63290	4.54E-4	0.001628	ENSG00000152104	ENST00000366956	T	0.71103	-0.54	5.49	3.53	0.40419	.	0.114078	0.64402	D	0.000018	T	0.80476	0.4630	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.83306	-0.0025	10	0.87932	D	0	.	14.7421	0.69464	0.0:0.0:0.6283:0.3717	.	491	Q15678	PTN14_HUMAN	W	491	ENSP00000355923:R491W	ENSP00000355923:R491W	R	-	1	2	PTPN14	212624350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.604000	0.36804	1.295000	0.44724	0.650000	0.86243	CGG		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	647	0	0	0	1	0	7	647					A	214557727	G	A	214557727	3	1	39	1	0	0	0	0	1	0	0	0	12831	1086	38	1	2120	1	PTPN14	1	214557727	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	57660153	214557727	34692894	7	4644											
FAM49A	81553	broad.mit.edu	37	chr2	16745312	16745312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaacaagagggcacacCgcattccaagctttttcttg	7	13	2	1	rs570137045	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:16745312C>T	ENST00000381323.3	-	5	463	c.243G>A	c.(241-243)gcG>gcA	p.A81A	FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	81						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGGGCACACCGCATTCCAAG	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.002					ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(241-243)gcG>gcA		family with sequence similarity 49, member A							127	118	121					2																	16745312		2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16745312C>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.243G>A	2.37:g.16745312C>T						FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		5	463	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		81					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.243G>A	CCDS1688.1																																																																																				0.408	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		12	253	0	0	0	1	0	12	253					T	16745312	C	T	16745312	2	4	39	1	0	0	0	0	0	0	0	1	5600	639	23	1		1	FAM49A	2	16745312	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		16745312	226454061	8	4645											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	439	0	0	0	1	0	6	439					T	27324303	C	T	27324303	3	4	39	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	10578991	27324303	215875070	9	4646											
KLRAQ1	129285	broad.mit.edu	37	chr2	48698251	48698251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataccttcatgaaaatgCgtcctatgtccgccctcttg	6	13	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:48698251C>T	ENST00000294952.8	+	10	1080	c.923C>T	c.(922-924)gCg>gTg	p.A308V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A308V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A308V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	308						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATGAAAATGCGTCCTATGTC	0.363																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(922-924)gCg>gTg		protein phosphatase 1, regulatory subunit 21							107	101	103					2																	48698251		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48698251C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.923C>T	2.37:g.48698251C>T	ENSP00000294952:p.Ala308Val					PPP1R21_ENST00000281394.4_Missense_Mutation_p.A308V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A308V	p.A308V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			10	1080	+			308					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.923C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082330	0.94050	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.048115	0.85682	D	0.000000	T	0.76557	0.4004	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998	T	0.71813	-0.4479	9	0.30854	T	0.27	-14.7796	19.2914	0.94102	0.0:1.0:0.0:0.0	.	308;308;308;308;308	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	V	308	.	ENSP00000281394:A308V	A	+	2	0	KLRAQ1	48551755	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.908000	0.75730	2.793000	0.96121	0.561000	0.74099	GCG		0.363	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		4	260	0	0	0	1	0	4	260					T	48698251	C	T	48698251	3	4	39	1	0	0	0	0	1	0	0	0	8443	768	27	1	961	1	KLRAQ1	2	48698251	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	21373948	48698251	194501122	10	4647											
SAG	6295	broad.mit.edu	37	chr2	234229331	234229331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagaggacattgacgtgatCggcttgaccttccgcaggga	13	10	0	4			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:234229331C>T	ENST00000409110.1	+	5	467	c.237C>T	c.(235-237)atC>atT	p.I79I	SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	79					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTGACGTGATCGGCTTGACCT	0.607																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(235-237)atC>atT		S-antigen; retina and pineal gland (arrestin)							35	38	37					2																	234229331		2111	4258	6369	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234229331C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.237C>T	2.37:g.234229331C>T						SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	p.I79I	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	5	467	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	79					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.237C>T	CCDS46545.1																																																																																				0.607	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		6	48	0	0	0	1	0	6	48					T	234229331	C	T	234229331	2	4	39	1	0	0	0	0	0	0	0	1	13858	874	31	1		1	SAG	2	234229331	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	185531080	234229331	8970042	11	4648											
GRM7	2917	broad.mit.edu	37	chr3	7728108	7728108	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtacactatcccaccaacAgtatagcttttgactgcttt	6	11	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:7728108A>C	ENST00000357716.4	+	9	2972				GRM7_ENST00000403881.1_Intron|GRM7_ENST00000486284.1_Silent_p.T921T|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000389336.4_Intron	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCCCACCAACAGTATAGCTTT	0.323																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2761-2763)acA>acC		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						67	67	67					3																	7728108		2203	4298	6501	SO:0001627	intron_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7728108A>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+6126A>C	3.37:g.7728108A>C						GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000389336.4_Intron	p.T921T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			10	3037	+			0					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2763A>C	CCDS43042.1																																																																																				0.323	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		44	645	0	0	0	1	0	44	645					C	7728108	A	C	7728108	1	2	39	0	1	0	0	0	0	0	0	0	6832	175	7	4		4	GRM7	3	7728108	Intron	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08		7728108	190294322	12	4649											
SCN10A	6336	broad.mit.edu	37	chr3	38750969	38750970	+	Splice_Site	INS	-	-	T													actcctgagcaccacttatcINSttttttttctgttgattgaa							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:38750969_38750970insT	ENST00000449082.2	-	24	4279_4280	c.4280_4281insA	c.(4279-4281)aag>aaAg	p.K1427fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1427					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACCACTTATCTTTTTTTTCTG	0.411																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e24+1		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)																																			SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38750969_38750970insT	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4281+1->A	3.37:g.38750977_38750977dupT							p.I1427_splice	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	24	4279_4280	-			1427					A6NDQ1	Splice_Site	INS	ENST00000449082.2	37	c.4281_splice	CCDS33736.1																																																																																				0.411	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Frame_Shift_Ins	7	602						7	602	---	---	---	---	T	38750970	-	T	38750969	8	5	39	1	0	1	1	0	0	0	1	0	13962	927	32	0	1605	0	SCN10A	3	38750969	Splice_Site	INS	-	TCGA-3E-AAAY-01A-11D-A38G-08	31022861	38750969	159271461	13	4650											
RAD54L2	23132	broad.mit.edu	37	chr3	51667598	51667598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcccttgtcagattggCgggatccggttcctttacga	11	10	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:51667598C>T	ENST00000409535.2	+	7	956	c.831C>T	c.(829-831)ggC>ggT	p.G277G	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	277						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GTCAGATTGGCGGGATCCGGT	0.473																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(829-831)ggC>ggT		RAD54-like 2 (S. cerevisiae)							89	95	93					3																	51667598		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51667598C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.831C>T	3.37:g.51667598C>T						RAD54L2_ENST00000296477.3_5'UTR	p.G277G	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	7	956	+			277					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.831C>T	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	1.955	-0.440389	0.04636	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.45	-4.93	0.03066	.	.	.	.	.	T	0.49966	0.1588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50101	-0.8867	4	.	.	.	-12.3306	7.8756	0.29592	0.0:0.4216:0.1207:0.4577	.	.	.	.	W	106	.	.	R	+	1	2	RAD54L2	51642638	0.472000	0.25870	0.960000	0.40013	0.277000	0.26821	-0.309000	0.08145	-0.834000	0.04239	-0.290000	0.09829	CGG		0.473	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		6	442	0	0	0	1	0	6	442					T	51667598	C	T	51667598	2	4	39	1	0	0	0	0	0	0	0	1	13044	755	27	1		1	RAD54L2	3	51667598	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	12916629	51667598	146354832	14	4651											
ZPLD1	131368	broad.mit.edu	37	chr3	102196331	102196331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaacgccatcaccagcGcactgatatcaggaatggtc	10	12	2	2	rs79539385		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:102196331G>A	ENST00000491959.1	+	18	1999	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000306176.1_Missense_Mutation_p.A389T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	373						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATCACCAGCGCACTGATATC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19617	0.001		0.0	False		,,,				2504	0.0					ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(1165-1167)Gca>Aca		zona pellucida-like domain containing 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221	218	219		1165	5.1	0.8	3	dbSNP_131	219	0,8600		0,0,4300	no	missense	ZPLD1	NM_175056.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	389/432	102196331	1,13005	2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102196331G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1117G>A	3.37:g.102196331G>A	ENSP00000420265:p.Ala373Thr					ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000491959.1_Missense_Mutation_p.A373T	p.A389T	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			11	1265	+			373					Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.1165G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.42	3.619851	0.66787	2.27E-4	0.0	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81330	-1.46;-1.48;-1.46	5.97	5.07	0.68467	.	0.196138	0.53938	D	0.000056	T	0.70928	0.3280	L	0.32530	0.975	0.58432	D	0.999995	P;B	0.39964	0.697;0.342	B;B	0.35073	0.195;0.041	T	0.69143	-0.5223	10	0.26408	T	0.33	-12.7547	16.2776	0.82654	0.0:0.0:0.8664:0.1336	.	389;373	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	373;389;373	ENSP00000420265:A373T;ENSP00000307801:A389T;ENSP00000418253:A373T	ENSP00000307801:A389T	A	+	1	0	ZPLD1	103679021	1.000000	0.71417	0.754000	0.31244	0.980000	0.70556	4.931000	0.63469	1.470000	0.48102	0.655000	0.94253	GCA		0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		40	956	0	0	0	1	0	40	956					A	102196331	G	A	102196331	3	1	39	1	0	0	0	0	1	0	0	0	18274	1087	38	1	1207	1	ZPLD1	3	102196331	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	50528733	102196331	95826099	15	4652											
TFDP2	7029	broad.mit.edu	37	chr3	141692946	141692947	+	Frame_Shift_Ins	INS	-	-	T													aggccaatccacttgatttcINSttttttttcctttgaaatta							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:141692946_141692947insT	ENST00000489671.1	-	8	1036_1037	c.606_607insA	c.(604-609)aaagaafs	p.E203fs	TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.E143fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.E67fs|TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.E175fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.E143fs|TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.E143fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.E142fs|TFDP2_ENST00000499676.2_Frame_Shift_Ins_p.E143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.E106fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.E127fs			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	203					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CACTTGATTTCTTTTTTTTCCT	0.342																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(424-429)aaaaatfs		transcription factor Dp-2 (E2F dimerization partner 2)																																				SO:0001589	frameshift_variant	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141692946_141692947insT	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.607dupA	3.37:g.141692954_141692954dupT	ENSP00000420616:p.Glu203fs					TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.N67fs|TFDP2_ENST00000489671.1_Frame_Shift_Ins_p.N203fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.N142fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.N106fs|TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.N175fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.N127fs|TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.N143fs	p.N143fs	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			8	1097_1098	-			203					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Frame_Shift_Ins	INS	ENST00000489671.1	37	c.426_427insA	CCDS54650.1																																																																																				0.342	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		9	562						9	562	---	---	---	---	T	141692947	-	T	141692946	7	5	39	1	0	1	1	0	0	0	0	0	15850	922	32	0	757	0	TFDP2	3	141692946	Frame_Shift_Ins	INS	-	TCGA-3E-AAAY-01A-11D-A38G-08	39496615	141692946	56329484	16	4653											
FBXL5	26234	broad.mit.edu	37	chr4	15627448	15627448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccacgcagttgaagtaAttttgcttgtagatgttttc	8	6	0	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:15627448A>G	ENST00000341285.3	-	9	1401	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T|FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	426					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGTTGAAGTAATTTTGCTTGT	0.393																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1276-1278)aTt>aCt		F-box and leucine-rich repeat protein 5							88	85	86					4																	15627448		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15627448A>G	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1277T>C	4.37:g.15627448A>G	ENSP00000344866:p.Ile426Thr					FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T	p.I426T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			9	1401	-			426					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1277T>C	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	0.449	-0.894587	0.02491	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.30182	1.57;1.57;1.54	5.92	-0.683	0.11335	.	0.891429	0.10025	N	0.725521	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	10	0.09338	T	0.73	-0.7497	0.2314	0.00180	0.2771:0.162:0.2613:0.2996	.	409;426	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	T	426;409;300	ENSP00000344866:I426T;ENSP00000408679:I409T;ENSP00000371795:I300T	ENSP00000344866:I426T	I	-	2	0	FBXL5	15236546	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.249000	0.08842	-0.087000	0.12528	0.528000	0.53228	ATT		0.393	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			34	322	0	0	0	1	0	34	322					G	15627448	A	G	15627448	3	3	39	1	0	0	0	0	1	0	0	0	5747	101	4	4	810	4	FBXL5	4	15627448	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08		15627448	175526828	17	4654											
TLR3	7098	broad.mit.edu	37	chr4	186997814	186997814	+	Frame_Shift_Del	DEL	T	T	-													tatctacttttgggggggccTtttgccctttgggatgctgt							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:186997814delT	ENST00000296795.3	+	2	145	c.41delT	c.(40-42)cttfs	p.L15fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	15					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGGGGGGGCCTTTTGCCCTTT	0.458																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(40-42)ctfs		toll-like receptor 3							106	100	102					4																	186997814		2203	4300	6503	SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997814delT	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.41delT	4.37:g.186997814delT	ENSP00000296795:p.Leu15fs						p.L15fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	145	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	15					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Del	DEL	ENST00000296795.3	37	c.41delT	CCDS3846.1																																																																																				0.458	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			7	510						7	510	---	---	---	---	-	186997814	T	-	186997814	7	5	39	1	0	1	0	1	0	0	0	0	16004	1609	56	0	43	0	TLR3	4	186997814	Frame_Shift_Del	DEL	T	TCGA-3E-AAAY-01A-11D-A38G-08	171370366	186997814	4156462	18	4655											
REEP2	51308	broad.mit.edu	37	chr5	137777145	137777145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctcacggatatagtgctCtcctggtgaggtccagcgtc	12	12	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:137777145C>T	ENST00000254901.5	+	3	299	c.177C>T	c.(175-177)ctC>ctT	p.L59L	REEP2_ENST00000378339.2_Silent_p.L59L|REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000464751.2_3'UTR	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAG	0.592																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(175-177)ctC>ctT		receptor accessory protein 2							120	96	104					5																	137777145		2203	4300	6503	SO:0001819	synonymous_variant	51308					integral to membrane		g.chr5:137777145C>T	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.177C>T	5.37:g.137777145C>T						REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000254901.5_Silent_p.L59L	p.L59L	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	369	+			59					Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	c.177C>T	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191368	0.21954	.	.	ENSG00000132563	ENST00000512126	.	.	.	4.01	-4.81	0.03180	.	.	.	.	.	T	0.50769	0.1635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52426	-0.8577	4	.	.	.	-4.1558	8.4986	0.33144	0.0:0.2491:0.5241:0.2268	.	.	.	.	F	97	.	.	S	+	2	0	REEP2	137805044	0.915000	0.31059	0.934000	0.37439	0.986000	0.74619	-0.207000	0.09384	-0.560000	0.06102	0.455000	0.32223	TCT		0.592	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		8	162	0	0	0	1	0	8	162					T	137777145	C	T	137777145	2	4	39	1	0	0	0	0	0	0	0	1	13255	900	32	2		2	REEP2	5	137777145	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		137777145	43138115	19	4656											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaacaccattgtggccGttctcagtgtcaatgaccaa	7	14	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CATTGTGGCCGTTCTCAGTGT	0.557																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				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						c.(1156-1158)Gtt>Att									87	77	80					5																	140347507		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347507G>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.1156G>A	5.37:g.140347507G>A	ENSP00000289269:p.Val386Ile					PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron	p.V386I	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1688	+			386			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1156G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032404	0.19590	.	.	ENSG00000243232	ENST00000289269	T	0.52526	0.66	5.61	0.00759	0.14071	Cadherin (3);Cadherin-like (1);	0.648092	0.12765	N	0.441059	T	0.26557	0.0649	N	0.17922	0.545	0.09310	N	0.999999	P;B	0.38370	0.628;0.004	B;B	0.31686	0.134;0.003	T	0.10314	-1.0635	10	0.66056	D	0.02	.	7.6778	0.28497	0.0:0.4911:0.2225:0.2864	.	386;386	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	386	ENSP00000289269:V386I	ENSP00000289269:V386I	V	+	1	0	PCDHAC2	140327691	0.000000	0.05858	0.895000	0.35142	0.830000	0.47004	-0.096000	0.11059	0.046000	0.15833	-0.165000	0.13383	GTT		0.557	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		5	280	0	0	0	1	0	5	280					A	140347507	G	A	140347507	3	1	39	1	0	0	0	0	1	0	0	0	11575	1145	40	1	1158	1	PCDHAC2	5	140347507	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	2570362	140347507	40567753	20	4657											
PCDHB2	56133	broad.mit.edu	37	chr5	140475695	140475695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgagcacaacataaccGtgctggtctccgacgtcaat	8	13	2	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140475695G>A	ENST00000194155.4	+	1	1469	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	441	Cadherin 4. {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)			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)			CAACATAACCGTGCTGGTCTC	0.602																																						ENST00000194155.4																			0				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						c.(1321-1323)Gtg>Atg									151	140	144					5																	140475695		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475695G>A	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.1321G>A	5.37:g.140475695G>A	ENSP00000194155:p.Val441Met						p.V441M	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1469	+			441			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1321G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890258	0.17613	.	.	ENSG00000112852	ENST00000194155	T	0.72725	-0.68	5.11	0.835	0.18886	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85695	0.5756	H	0.98754	4.32	0.09310	N	1	D	0.71674	0.998	P	0.58660	0.843	T	0.73990	-0.3808	9	0.62326	D	0.03	.	3.5112	0.07709	0.1501:0.2337:0.4965:0.1196	.	441	Q9Y5E7	PCDB2_HUMAN	M	441	ENSP00000194155:V441M	ENSP00000194155:V441M	V	+	1	0	PCDHB2	140455879	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.396000	0.07278	0.173000	0.19788	0.650000	0.86243	GTG		0.602	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		7	711	0	0	0	1	0	7	711					A	140475695	G	A	140475695	3	1	39	1	0	0	0	0	1	0	0	0	11584	1145	40	1	1323	1	PCDHB2	5	140475695	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	128188	140475695	40439565	21	4658											
PCDHB3	56132	broad.mit.edu	37	chr5	140481822	140481822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgttcgagttccGcgtgggcgccacagaccgtg	15	14	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140481822G>A	ENST00000231130.2	+	1	1589	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R530H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.667																																						ENST00000231130.2																			1	Substitution - Missense(1)	p.R530H(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1588-1590)cGc>cAc									59	63	62					5																	140481822		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481822G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1589G>A	5.37:g.140481822G>A	ENSP00000231130:p.Arg530His						p.R530H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1589	+			530			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1589G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058176	0.01950	.	.	ENSG00000113205	ENST00000231130	T	0.01767	4.65	4.14	1.03	0.20045	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01092	0.0036	N	0.11064	0.09	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.48854	-0.8998	9	0.15499	T	0.54	.	6.6896	0.23163	0.1992:0.224:0.5769:0.0	.	530	Q9Y5E6	PCDB3_HUMAN	H	530	ENSP00000231130:R530H	ENSP00000231130:R530H	R	+	2	0	PCDHB3	140462006	0.000000	0.05858	0.989000	0.46669	0.065000	0.16274	-0.362000	0.07602	0.834000	0.34852	0.650000	0.86243	CGC		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		28	339	0	0	0	1	0	28	339					A	140481822	G	A	140481822	3	1	39	1	0	0	0	0	1	0	0	0	11585	1087	38	1	1591	1	PCDHB3	5	140481822	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	6127	140481822	40433438	22	4659											
RASGEF1C	255426	broad.mit.edu	37	chr5	179548100	179548100	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtagcacagcctgttgAaccatttcacataagcctcc	7	14	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:179548100A>C	ENST00000393371.2	-	6	1060	c.764T>G	c.(763-765)tTc>tGc	p.F255C	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	255	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCTGTTGAACCATTTCAC	0.557																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(763-765)tTc>tGc		RasGEF domain family, member 1C							157	143	147					5																	179548100		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179548100A>C	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.764T>G	5.37:g.179548100A>C	ENSP00000377037:p.Phe255Cys					RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000519883.1_5'UTR	p.F255C			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1060	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	255			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.764T>G	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934399	0.52866	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.39787	1.06;1.06;1.06	3.64	3.64	0.41730	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.059111	0.64402	D	0.000002	T	0.62575	0.2439	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67745	-0.5591	10	0.87932	D	0	.	11.5493	0.50711	1.0:0.0:0.0:0.0	.	255	Q8N431	RGF1C_HUMAN	C	255;255;104	ENSP00000354963:F255C;ENSP00000377037:F255C;ENSP00000429114:F104C	ENSP00000354963:F255C	F	-	2	0	RASGEF1C	179480706	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.407000	0.66363	1.677000	0.50941	0.254000	0.18369	TTC		0.557	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		16	286	0	0	0	1	0	16	286					C	179548100	A	C	179548100	3	2	39	1	0	0	0	0	1	0	0	0	13121	246	9	4	668	4	RASGEF1C	5	179548100	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	39066278	179548100	1367160	23	4660											
KCNQ5	56479	broad.mit.edu	37	chr6	73332002	73332002	+	Frame_Shift_Del	DEL	G	G	-													cagcggcggcggcggcgggcGgggggcgcttgggcagcggc							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:73332002delG	ENST00000370398.1	+	1	194	c.85delG	c.(85-87)gggfs	p.G30fs	KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000342056.2_Frame_Shift_Del_p.G30fs	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	30					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ggcggcgggcggggggcgcTT	0.766																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(85-87)ggfs		potassium voltage-gated channel, KQT-like subfamily, member 5							1	2	2					6																	73332002		811	2036	2847	SO:0001589	frameshift_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73332002delG	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.85delG	6.37:g.73332002delG	ENSP00000359425:p.Gly30fs					KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.G30fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.G30fs	p.G30fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	1	483	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	30					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Frame_Shift_Del	DEL	ENST00000370398.1	37	c.85delG	CCDS4976.1																																																																																				0.766	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		2	4						2	4	---	---	---	---	-	73332002	G	-	73332002	7	5	39	1	0	1	0	1	0	0	0	0	8116	1116	39	0	87	0	KCNQ5	6	73332002	Frame_Shift_Del	DEL	G	TCGA-3E-AAAY-01A-11D-A38G-08		73332002	97783065	24	4661											
AIM1	202	broad.mit.edu	37	chr6	106987390	106987390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtacattggatccatgCggcctctgaaaatggtaaaa	10	8	1	1	rs373859652		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:106987390C>T	ENST00000369066.3	+	7	4094	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGATCCATGCGGCCTCTGAA	0.438																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3607-3609)Cgg>Tgg		absent in melanoma 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	123	120	121		3607	3.7	1	6		121	0,8600		0,0,4300	no	missense	AIM1	NM_001624.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1203/1724	106987390	1,13005	2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106987390C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3607C>T	6.37:g.106987390C>T	ENSP00000358062:p.Arg1203Trp						p.R1203W	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	7	4094	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1203			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3607C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674524	0.67928	2.27E-4	0.0	ENSG00000112297	ENST00000369066	D	0.82344	-1.6	5.66	3.67	0.42095	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.094954	0.64402	D	0.000002	D	0.90728	0.7090	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92760	0.6223	10	0.87932	D	0	.	13.4764	0.61312	0.4327:0.5673:0.0:0.0	.	1203	Q9Y4K1	AIM1_HUMAN	W	1203	ENSP00000358062:R1203W	ENSP00000358062:R1203W	R	+	1	2	AIM1	107094083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.275000	0.33144	1.360000	0.45960	0.655000	0.94253	CGG		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			6	423	0	0	0	1	0	6	423					T	106987390	C	T	106987390	3	4	39	1	0	0	0	0	1	0	0	0	430	759	27	1	3633	1	AIM1	6	106987390	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	33655388	106987390	64127677	25	4662											
DNAH11	8701	broad.mit.edu	37	chr7	21628848	21628848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggcaatcctgatcacGctttagtttatcaaaagtat	7	7	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:21628848G>A	ENST00000409508.3	+	12	2027	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A666T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	666	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCTGATCACGCTTTAGTTTA	0.303									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1996-1998)Gct>Act		dynein, axonemal, heavy chain 11							84	81	82					7																	21628848		1814	4077	5891	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21628848G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1996G>A	7.37:g.21628848G>A	ENSP00000475939:p.Ala666Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.A666T	p.A666T			Q96DT5	DYH11_HUMAN			12	2027	+			666			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1996G>A		.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000105877	ENST00000328843	T	0.55413	0.52	5.58	3.79	0.43588	Dynein heavy chain, domain-1 (1);	0.823945	0.11127	N	0.596763	T	0.38612	0.1047	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.26815	-1.0092	9	0.41790	T	0.15	.	6.2505	0.20843	0.1557:0.0:0.6953:0.149	.	666	Q96DT5	DYH11_HUMAN	T	666	ENSP00000330671:A666T	ENSP00000330671:A666T	A	+	1	0	DNAH11	21595373	0.022000	0.18835	0.476000	0.27291	0.043000	0.13939	1.048000	0.30379	0.731000	0.32448	0.650000	0.86243	GCT		0.303	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	199	0	0	0	1	0	15	199					A	21628848	G	A	21628848	3	1	39	1	0	0	0	0	1	0	0	0	4615	1087	38	1	2042	1	DNAH11	7	21628848	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		21628848	137509815	26	4663											
BAZ1B	9031	broad.mit.edu	37	chr7	72892025	72892025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctgaatgctggaaggTttttgccagttaactcttgg	10	8	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:72892025T>G	ENST00000339594.4	-	7	2104	c.1766A>C	c.(1765-1767)aAc>aCc	p.N589T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	589					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGGAAGGTTTTTGCCAGT	0.458																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1765-1767)aAc>aCc		bromodomain adjacent to zinc finger domain, 1B							151	165	160					7																	72892025		2202	4299	6501	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892025T>G	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1766A>C	7.37:g.72892025T>G	ENSP00000342434:p.Asn589Thr					BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2104	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	589					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1766A>C	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312690	0.10789	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.57273	0.41;0.41	5.82	-6.38	0.01957	.	0.558505	0.22152	N	0.063904	T	0.32436	0.0829	L	0.40543	1.245	0.24006	N	0.996196	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.14656	T	0.56	-6.4103	10.4288	0.44395	0.0:0.4925:0.284:0.2234	.	589	Q9UIG0	BAZ1B_HUMAN	T	589	ENSP00000342434:N589T;ENSP00000385442:N589T	ENSP00000342434:N589T	N	-	2	0	BAZ1B	72529961	0.003000	0.15002	0.412000	0.26496	0.974000	0.67602	-0.564000	0.05936	-1.088000	0.03077	0.533000	0.62120	AAC		0.458	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		69	905	0	0	0	1	0	69	905					G	72892025	T	G	72892025	3	3	39	1	0	0	0	0	1	0	0	0	1331	1725	60	4	2737	4	BAZ1B	7	72892025	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	51263177	72892025	86246638	27	4664											
C7orf58	79974	broad.mit.edu	37	chr7	120629686	120629686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactggtcatggtctgtcGcccagtgttcccttgtcgtc	11	12	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:120629686G>A	ENST00000310396.5	+	2	478	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CPED1_ENST00000450913.2_Missense_Mutation_p.R4H|CPED1_ENST00000340646.5_Missense_Mutation_p.R4H|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	4						endoplasmic reticulum (GO:0005783)											ATGGTCTGTCGCCCAGTGTTC	0.522																																						ENST00000310396.5																			0											c.(10-12)cGc>cAc		cadherin-like and PC-esterase domain containing 1							133	117	123					7																	120629686		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120629686G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.11G>A	7.37:g.120629686G>A	ENSP00000309772:p.Arg4His					CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.R4H|CPED1_ENST00000340646.5_Missense_Mutation_p.R4H	p.R4H	NM_024913.4	NP_079189.4					2	478	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.11G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357487	0.61293	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.64	4.76	0.60689	.	0.072669	0.53938	D	0.000056	T	0.44664	0.1304	M	0.66939	2.045	0.36552	D	0.871923	B;B	0.32717	0.381;0.047	B;B	0.26202	0.067;0.01	T	0.57219	-0.7849	10	0.72032	D	0.01	.	11.906	0.52713	0.0798:0.0:0.9202:0.0	.	4;4	A4D0V7-2;A4D0V7	.;CG058_HUMAN	H	4	ENSP00000309772:R4H;ENSP00000398082:R4H;ENSP00000406122:R4H;ENSP00000345235:R4H	ENSP00000309772:R4H	R	+	2	0	C7orf58	120416922	1.000000	0.71417	0.878000	0.34440	0.969000	0.65631	4.420000	0.59841	1.396000	0.46663	0.655000	0.94253	CGC		0.522	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		7	392	0	0	0	1	0	7	392					A	120629686	G	A	120629686	3	1	39	1	0	0	0	0	1	0	0	0	2412	1087	38	1	13	1	C7orf58	7	120629686	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	47737661	120629686	38508977	28	4665											
HOOK3	84376	broad.mit.edu	37	chr8	42805542	42805542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcagagtacatccaaGccattatgatgatggaggaa	10	6	1	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:42805542G>A	ENST00000307602.4	+	6	612	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	Y_RNA_ENST00000365644.1_RNA	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	138	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACATCCAAGCCATTATGAT	0.353			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(412-414)Gcc>Acc		hook microtubule-tethering protein 3							194	173	181					8																	42805542		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42805542G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.412G>A	8.37:g.42805542G>A	ENSP00000305699:p.Ala138Thr						p.A138T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		6	612	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	138			Sufficient for interaction with microtubules.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.412G>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487393	0.44249	.	.	ENSG00000168172	ENST00000307602	T	0.17370	2.28	5.7	5.7	0.88788	.	0.104415	0.64402	N	0.000006	T	0.06462	0.0166	N	0.02539	-0.55	0.40492	D	0.980557	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.003	T	0.40627	-0.9553	10	0.20046	T	0.44	-4.5861	7.4677	0.27330	0.1979:0.0:0.8021:0.0	.	138;138	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	138	ENSP00000305699:A138T	ENSP00000305699:A138T	A	+	1	0	HOOK3	42924699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.677000	0.91161	0.650000	0.86243	GCC		0.353	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		12	594	0	0	0	1	0	12	594					A	42805542	G	A	42805542	3	1	39	1	0	0	0	0	1	0	0	0	7314	971	34	2	434	2	HOOK3	8	42805542	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		42805542	103558480	29	4666											
ZFHX4	79776	broad.mit.edu	37	chr8	77767067	77767067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagaaaaatgcttgatcAtattgcccgcgaagtcgggc	10	10	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:77767067A>G	ENST00000521891.2	+	10	8358	c.7910A>G	c.(7909-7911)cAt>cGt	p.H2637R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCTTGATCATATTGCCCGC	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7909-7911)cAt>cGt		zinc finger homeobox 4							39	40	39					8																	77767067		1856	4100	5956	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767067A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7910A>G	8.37:g.77767067A>G	ENSP00000430497:p.His2637Arg	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R	p.H2637R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8358	+			2592					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7910A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.874	0.950034	0.18431	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47093	U	0.000258	D	0.89291	0.6673	N	0.01473	-0.845	0.80722	D	1	P;B;B	0.34412	0.453;0.399;0.259	B;B;B	0.42827	0.128;0.078;0.399	D	0.89968	0.4091	10	0.40728	T	0.16	.	15.4359	0.75146	1.0:0.0:0.0:0.0	.	2592;2592;2637	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2637;2621;2592;2592;2611	ENSP00000430497:H2637R;ENSP00000399605:H2592R;ENSP00000050961:H2592R;ENSP00000430848:H2611R	ENSP00000050961:H2592R	H	+	2	0	ZFHX4	77929622	1.000000	0.71417	0.327000	0.25402	0.090000	0.18270	9.139000	0.94554	2.230000	0.72887	0.528000	0.53228	CAT		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	186	0	0	0	1	0	11	186					G	77767067	A	G	77767067	3	3	39	1	0	0	0	0	1	0	0	0	17688	217	8	4	7944	4	ZFHX4	8	77767067	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	34961525	77767067	68596955	30	4667											
ZC3H3	23144	broad.mit.edu	37	chr8	144620233	144620233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactttgtaagccgagagcGgggtctccccagagaggggc	15	11	2	2	rs368969638		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:144620233G>A	ENST00000262577.5	-	2	1335	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	435					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGCCGAGAGCGGGGTCTCCCC	0.642																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1303-1305)cCg>cTg		zinc finger CCCH-type containing 3		G	LEU/PRO	0,4406		0,0,2203	40	45	43		1304	4.4	0	8		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H3	NM_015117.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/949	144620233	1,13005	2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620233G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1304C>T	8.37:g.144620233G>A	ENSP00000262577:p.Pro435Leu						p.P435L	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	1335	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		435					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1304C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	3.338	-0.135192	0.06711	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.31	4.4	0.53042	.	0.573853	0.17539	N	0.170615	T	0.02455	0.0075	L	0.47716	1.5	0.09310	N	1	P	0.37997	0.614	B	0.22152	0.038	T	0.47837	-0.9086	10	0.31617	T	0.26	-2.5276	6.5088	0.22210	0.0734:0.1267:0.6613:0.1386	.	435	Q8IXZ2	ZC3H3_HUMAN	L	435	ENSP00000262577:P435L	ENSP00000262577:P435L	P	-	2	0	ZC3H3	144691376	0.002000	0.14202	0.005000	0.12908	0.022000	0.10575	1.201000	0.32259	1.177000	0.42855	0.561000	0.74099	CCG		0.642	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		5	154	0	0	0	1	0	5	154					A	144620233	G	A	144620233	3	1	39	1	0	0	0	0	1	0	0	0	17622	1116	39	1	1586	1	ZC3H3	8	144620233	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	66853166	144620233	1743789	31	4668											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		9	98						9	98	---	---	---	---	-	2039779	CAG	-	2039777	7	5	39	1	0	1	0	1	0	0	0	0	14819	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-3E-AAAY-01A-11D-A38G-08		2039777	139173654	32	4669											
CDKN2A	1029	broad.mit.edu	37	chr9	21974747	21974747	+	Frame_Shift_Del	DEL	T	T	-													cctccagcagcgcccgcaccTcctctacccgaccccgggcc							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:21974747delT	ENST00000304494.5	-	1	350	c.80delA	c.(79-81)gagfs	p.E27fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	27					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCCGCACCTCCTCTACCCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(1)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(79-81)ggfs		cyclin-dependent kinase inhibitor 2A							22	29	26					9																	21974747		1934	3927	5861	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974747delT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.80delA	9.37:g.21974747delT	ENSP00000307101:p.Glu27fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000361570.3_Intron	p.E27fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	350	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	27					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.80delA	CCDS6510.1																																																																																				0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		15	301						15	301	---	---	---	---	-	21974747	T	-	21974747	7	5	39	1	0	1	0	1	0	0	0	0	3170	1551	54	0	603	0	CDKN2A	9	21974747	Frame_Shift_Del	DEL	T	TCGA-3E-AAAY-01A-11D-A38G-08	19934970	21974747	119238684	33	4670											
C9orf24	84688	broad.mit.edu	37	chr9	34381395	34381395	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccgctccggcctaggAgggcattccaagggcattcc	13	13	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:34381395A>T	ENST00000297623.2	-	4	642	c.444T>A	c.(442-444)ccT>ccA	p.P148P	C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379124.1_Silent_p.P13P	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	148					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGGCCTAGGAGGGCATTCCA	0.617																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(442-444)ccT>ccA		chromosome 9 open reading frame 24							152	129	137					9																	34381395		2203	4300	6503	SO:0001819	synonymous_variant	84688							g.chr9:34381395A>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.444T>A	9.37:g.34381395A>T						C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P	p.P148P	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	642	-			148					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.444T>A	CCDS6554.1																																																																																				0.617	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		29	332	0	0	0	1	0	29	332					T	34381395	A	T	34381395	2	4	39	1	0	0	0	0	0	0	0	1	2482	291	11	5		5	C9orf24	9	34381395	Silent	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	12406648	34381395	106832036	34	4671											
TRPM3	80036	broad.mit.edu	37	chr9	73151305	73151305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaaggcagctctgtccGcaattgcttgaggggcattg	15	9	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:73151305G>A	ENST00000377110.3	-	25	4931	c.4688C>T	c.(4687-4689)gCg>gTg	p.A1563V	TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1588					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTCTGTCCGCAATTGCTTG	0.493																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4687-4689)gCg>gTg		transient receptor potential cation channel, subfamily M, member 3							97	90	92					9																	73151305		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151305G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4688C>T	9.37:g.73151305G>A	ENSP00000366314:p.Ala1563Val					TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000377111.2_Intron	p.A1563V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4931	-			1588					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4688C>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	6.617	0.482296	0.12581	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.56275	0.56;0.5;0.5;0.47;0.57;0.47;0.51;0.5;0.5;0.56	5.87	4.97	0.65823	.	0.180840	0.47093	D	0.000241	T	0.29158	0.0725	N	0.11560	0.145	0.19775	N	0.99995	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001;0.001;0.0	T	0.10590	-1.0623	10	0.12766	T	0.61	-8.7036	10.1358	0.42706	0.0704:0.0:0.7916:0.138	.	1563;1553;1567;1425;1422;1535;1422	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	V	1563;1435;1425;1422;1567;1422;1422;1435;1425;1590	ENSP00000366314:A1563V;ENSP00000366310:A1435V;ENSP00000354066:A1425V;ENSP00000366309:A1422V;ENSP00000350140:A1567V;ENSP00000386127:A1422V;ENSP00000379581:A1422V;ENSP00000379587:A1435V;ENSP00000350791:A1425V;ENSP00000389542:A1590V	ENSP00000350140:A1567V	A	-	2	0	TRPM3	72341125	0.994000	0.37717	0.071000	0.20095	0.751000	0.42716	4.224000	0.58593	2.785000	0.95823	0.655000	0.94253	GCG		0.493	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		5	385	0	0	0	1	0	5	385					A	73151305	G	A	73151305	3	1	39	1	0	0	0	0	1	0	0	0	16640	1087	38	1	439	1	TRPM3	9	73151305	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	38769910	73151305	68062126	35	4672											
TGFBR1	7046	broad.mit.edu	37	chr9	101891209	101891209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatgggctctgctttgtctCtgtcacagagaccacagaca	10	11	3	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:101891209C>T	ENST00000374994.4	+	2	287	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TGFBR1_ENST00000550253.1_5'UTR|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	57					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTGTCTCTGTCACAGAG	0.408																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(169-171)tCt>tTt		transforming growth factor, beta receptor 1							92	83	86					9																	101891209		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101891209C>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.170C>T	9.37:g.101891209C>T	ENSP00000364133:p.Ser57Phe					TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR	p.S57F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			2	287	+		Acute lymphoblastic leukemia(62;0.0559)	57					Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.170C>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508992	0.85282	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000546584	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	6.08	6.08	0.98989	TGF-beta receptor/activin receptor, type I/II (1);	0.334572	0.36002	N	0.002853	D	0.97012	0.9024	M	0.73430	2.235	0.80722	D	1	P;B	0.40794	0.729;0.057	B;B	0.41236	0.351;0.082	D	0.96884	0.9648	10	0.87932	D	0	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	57;57	P36897-3;P36897	.;TGFR1_HUMAN	F	57;57;57;57;42;54	ENSP00000364133:S57F;ENSP00000364129:S57F;ENSP00000447297:S57F;ENSP00000447707:S54F	ENSP00000364129:S57F	S	+	2	0	TGFBR1	100931030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.894000	0.99253	0.591000	0.81541	TCT		0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			43	483	0	0	0	1	0	43	483					T	101891209	C	T	101891209	3	4	39	1	0	0	0	0	1	0	0	0	15873	913	32	2	176	2	TGFBR1	9	101891209	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	28739904	101891209	39322222	36	4673											
OR1L1	26737	broad.mit.edu	37	chr9	125424481	125424481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctgcacattcttctgActaatcagctcatcttctgt	4	15	6	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:125424481A>G	ENST00000373686.1	+	1	637	c.637A>G	c.(637-639)Act>Gct	p.T213A	OR1L1_ENST00000309623.1_Missense_Mutation_p.T163A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATTCTTCTGACTAATCAGCT	0.438																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(637-639)Act>Gct		olfactory receptor, family 1, subfamily L, member 1							342	310	321					9																	125424481		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424481A>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.637A>G	9.37:g.125424481A>G	ENSP00000362790:p.Thr213Ala						p.T213A			Q8NH94	OR1L1_HUMAN			1	637	+			213					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.637A>G		.	.	.	.	.	.	.	.	.	.	A	12.13	1.845296	0.32606	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00241	8.46;8.46	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.31065	0.9	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.26467	-1.0102	9	0.62326	D	0.03	.	2.9697	0.05919	0.2427:0.2309:0.4172:0.1092	.	213	Q8NH94	OR1L1_HUMAN	A	213;163	ENSP00000362790:T213A;ENSP00000310773:T163A	ENSP00000310773:T163A	T	+	1	0	OR1L1	124464302	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-1.740000	0.01839	-1.523000	0.01767	0.260000	0.18958	ACT		0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				7	781	0	0	0	1	0	7	781					G	125424481	A	G	125424481	3	3	39	1	0	0	0	0	1	0	0	0	11005	275	10	4	489	4	OR1L1	9	125424481	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	23533272	125424481	15788950	37	4674											
RASGEF1A	221002	broad.mit.edu	37	chr10	43701485	43701485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccggccccgcctccaCgctcccccatgccaggctgc	9	24	0	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:43701485C>T	ENST00000395809.1	-	2	2586	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	27					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R27H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCGCCTCCACGCTCCCCCAT	0.637																																						ENST00000395809.1																			1	Substitution - Missense(1)	p.R27H(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(79-81)cGt>cAt		RasGEF domain family, member 1A							31	34	33					10																	43701485		2202	4296	6498	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43701485C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.80G>A	10.37:g.43701485C>T	ENSP00000379154:p.Arg27His					RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H	p.R27H			Q8N9B8	RGF1A_HUMAN			2	2586	-			27					Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.80G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896724	0.52121	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.71579	-0.56;-0.58;-0.58	5.49	3.63	0.41609	.	0.397928	0.18488	N	0.139733	T	0.54775	0.1879	N	0.22421	0.69	0.26555	N	0.973839	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.49606	-0.8922	10	0.45353	T	0.12	.	9.9083	0.41390	0.0:0.7883:0.0:0.2117	.	27;35	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	H	35;27;27	ENSP00000363583:R35H;ENSP00000379155:R27H;ENSP00000379154:R27H	ENSP00000363583:R35H	R	-	2	0	RASGEF1A	43021491	0.769000	0.28531	0.691000	0.30163	0.786000	0.44442	1.601000	0.36773	1.344000	0.45657	-0.119000	0.15052	CGT		0.637	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		6	50	0	0	0	1	0	6	50					T	43701485	C	T	43701485	3	4	39	1	0	0	0	0	1	0	0	0	13119	536	19	1	1413	1	RASGEF1A	10	43701485	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		43701485	91833262	38	4675											
RTKN2	219790	broad.mit.edu	37	chr10	64005797	64005797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacatgctgttcgttcttTactttcaaatttcacatcac	3	10	4	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:64005797T>C	ENST00000373789.3	-	3	373	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E|RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	93					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCGTTCTTTACTTTCAAAT	0.279																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(277-279)Aaa>Gaa		rhotekin 2							96	97	96					10																	64005797		2202	4296	6498	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64005797T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.277A>G	10.37:g.64005797T>C	ENSP00000362894:p.Lys93Glu					RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E|RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E	p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			3	373	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		93					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.277A>G	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083293	0.08533	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.41758	1.6;1.6;0.99	5.38	1.67	0.24075	.	0.457220	0.27932	N	0.017279	T	0.28333	0.0700	L	0.48362	1.52	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.20042	-1.0287	10	0.13853	T	0.58	-0.4111	5.9418	0.19198	0.0:0.1462:0.1373:0.7165	.	93;93	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	E	93	ENSP00000378682:K93E;ENSP00000362894:K93E;ENSP00000378678:K93E	ENSP00000362894:K93E	K	-	1	0	RTKN2	63675803	0.949000	0.32298	0.294000	0.24946	0.859000	0.49053	1.602000	0.36783	0.337000	0.23665	0.528000	0.53228	AAA		0.279	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	202	0	0	0	1	0	7	202					C	64005797	T	C	64005797	3	2	39	1	0	0	0	0	1	0	0	0	13773	1763	61	4	1592	4	RTKN2	10	64005797	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	20304312	64005797	71528950	39	4676											
DLG5	9231	broad.mit.edu	37	chr10	79570968	79570968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctggagagtggagtgGgtaccggcagggtccaggtg	19	9	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:79570968G>T	ENST00000372391.2	-	23	4352	c.4347C>A	c.(4345-4347)acC>acA	p.T1449T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1109T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1449					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGTGGAGTGGGTACCGGCAG	0.647																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4345-4347)acC>acA		discs, large homolog 5 (Drosophila)							88	85	86					10																	79570968		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79570968G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4347C>A	10.37:g.79570968G>T						DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1109T	p.T1449T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		23	4352	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1449					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4347C>A	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			5	281	1	0	0.00116845	1	0.00120151	5	281					T	79570968	G	T	79570968	2	4	39	1	0	0	0	0	0	0	0	1	4574	1219	43	3		3	DLG5	10	79570968	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	15565171	79570968	55963779	40	4677											
IGF2	3481	broad.mit.edu	37	chr11	2154783	2154783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcgacacgtccctctcGgacttggcgggggtagcaca	16	12	1	0	rs373036890		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2154783G>A	ENST00000416167.2	-	3	1436	c.270C>T	c.(268-270)tcC>tcT	p.S90S	IGF2_ENST00000381406.4_Silent_p.S93S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000434045.2_Silent_p.S146S|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	90	D.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTCTCGGACTTGGCGG	0.652																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(268-270)tcC>tcT		insulin-like growth factor 2 (somatomedin A)			,,	0,4404		0,0,2202	46	40	42		270,270,438	2.2	1	11		42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	IGF2	NM_000612.4,NM_001007139.4,NM_001127598.1	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	90/181,90/181,146/237	2154783	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154783G>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.270C>T	11.37:g.2154783G>A						IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000337883.6_Silent_p.S90S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S	p.S90S			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	3	1436	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	90			D.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	ENST00000416167.2	37	c.270C>T	CCDS7728.1																																																																																				0.652	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		9	93	0	0	0	1	0	9	93					A	2154783	G	A	2154783	2	1	39	1	0	0	0	0	0	0	0	1	7602	1103	39	1		1	IGF2	11	2154783	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		2154783	132851733	41	4678											
INS	723961	broad.mit.edu	37	chr11	2182109	2182109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaccaggtgtgagccGcacaggtgttggttcacaaa	12	11	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	31						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652																																						ENST00000397270.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(91-93)tgC>tgT									52	52	52					11																	2182109		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182109G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A						INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C	p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	151	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	31					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.93C>T	CCDS41598.1																																																																																				0.652	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		7	194	0	0	0	1	0	7	194					A	2182109	G	A	2182109	2	1	39	1	0	0	0	0	0	0	0	1	7792	1079	38	1		1	INS	11	2182109	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	27326	2182109	132824407	42	4679											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156533	17156533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataaattgctgcagttaaTtggtttatgcttacttgaac	7	6	1	1	rs377262754	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:17156533T>C	ENST00000265970.7	-	10	1940	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.Q267Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	647					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTGCAGTTAATTGGTTTATGC	0.373													T|||	10	0.00199681	0.0	0.0	5008	,	,		18418	0.0		0.0	False		,,,				2504	0.0102					ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1939-1941)caA>caG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						124	123	123					11																	17156533		2200	4293	6493	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156533T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1941A>G	11.37:g.17156533T>C						PIK3C2A_ENST00000540361.1_Silent_p.Q267Q|PIK3C2A_ENST00000531428.1_Intron	p.Q647Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			10	1940	-			647					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.1941A>G	CCDS7824.1																																																																																				0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		31	422	0	0	0	1	0	31	422					C	17156533	T	C	17156533	2	2	39	1	0	0	0	0	0	0	0	1	11951	1490	52	4		4	PIK3C2A	11	17156533	Silent	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	14974424	17156533	117849983	43	4680											
ABTB2	25841	broad.mit.edu	37	chr11	34218927	34218927	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggggttctccatggactCcatctgtggacaccgcagaa	12	11	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:34218927C>A	ENST00000435224.2	-	3	1613	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	397					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGACTCCATCTGTGGA	0.632																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1189-1191)Gag>Tag		ankyrin repeat and BTB (POZ) domain containing 2							62	62	62					11																	34218927		2202	4298	6500	SO:0001587	stop_gained	25841						DNA binding	g.chr11:34218927C>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1189G>T	11.37:g.34218927C>A	ENSP00000410157:p.Glu397*					ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR	p.E397*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			3	1613	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	211					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	c.1189G>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	43	10.292513	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6082	19.6195	0.95650	0.0:1.0:0.0:0.0	.	.	.	.	X	397;211	.	ENSP00000298992:E211X	E	-	1	0	ABTB2	34175503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	GAG		0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		9	223	1	0	3.07112e-06	1	3.28188e-06	9	223					A	34218927	C	A	34218927	4	1	39	1	0	0	0	0	0	1	0	0	103	864	30	3	1948	3	ABTB2	11	34218927	Nonsense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	17062394	34218927	100787589	44	4681											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		10	913	0	0	0	1	0	10	913					T	71249545	C	T	71249545	2	4	39	1	0	0	0	0	0	0	0	1	8598	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	37030618	71249545	63756971	45	4682											
FAT3	120114	broad.mit.edu	37	chr11	92577822	92577822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcactcgattcccacgcGctcatgacctacagcacggc	8	16	2	1	rs373765265		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:92577822G>A	ENST00000298047.6	+	18	11306	c.11289G>A	c.(11287-11289)gcG>gcA	p.A3763A	FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000409404.2_Silent_p.A3763A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3763					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCACGCGCTCATGACCT	0.532										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11287-11289)gcG>gcA		FAT atypical cadherin 3							98	98	98					11																	92577822		2145	4242	6387	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577822G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11289G>A	11.37:g.92577822G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000409404.2_Silent_p.A3763A	p.A3763A			Q8TDW7	FAT3_HUMAN			18	11306	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3763					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11289G>A																																																																																					0.532	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	61	0	0	0	1	0	4	61					A	92577822	G	A	92577822	2	1	39	1	0	0	0	0	0	0	0	1	5716	1074	38	1		1	FAT3	11	92577822	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	21328277	92577822	42428694	46	4683											
ROBO3	64221	broad.mit.edu	37	chr11	124743218	124743218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaggagatggacatgGgcttctacagctgcgtggcc	13	11	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:124743218G>A	ENST00000397801.1	+	10	1741	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		GATGGACATGGGCTTCTACAG	0.542																																						ENST00000397801.1																			0				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						c.(1549-1551)Ggc>Agc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							56	62	60					11																	124743218		1969	4154	6123	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743218G>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.1549G>A	11.37:g.124743218G>A	ENSP00000380903:p.Gly517Ser					ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	p.G517S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	10	1741	+	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)	517			Ig-like C2-type 5.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1549G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186181	0.78789	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60171	0.21;0.21	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197564	0.25478	N	0.030400	D	0.84696	0.5529	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90158	0.4226	10	0.87932	D	0	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	517	Q96MS0	ROBO3_HUMAN	S	517;495	ENSP00000380903:G517S;ENSP00000441797:G495S	ENSP00000380903:G517S	G	+	1	0	ROBO3	124248428	1.000000	0.71417	0.107000	0.21349	0.762000	0.43233	8.485000	0.90448	2.548000	0.85928	0.455000	0.32223	GGC		0.542	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	59	0	0	0	1	0	3	59					A	124743218	G	A	124743218	3	1	39	1	0	0	0	0	1	0	0	0	13565	1232	43	2	1587	2	ROBO3	11	124743218	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	32165396	124743218	10263298	47	4684											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	269	0	0	0	1	0	9	269					T	25398284	C	T	25398284	3	4	39	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		25398284	108453611	48	4685											
KCNH3	23416	broad.mit.edu	37	chr12	49950199	49950199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcggaccagcccaagTtctctttccgcgtgggccag	13	14	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:49950199T>C	ENST00000257981.6	+	13	2775	c.2515T>C	c.(2515-2517)Ttc>Ctc	p.F839L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	839					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAGCCCAAGTTCTCTTTCCG	0.622																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2515-2517)Ttc>Ctc		potassium voltage-gated channel, subfamily H (eag-related), member 3							110	107	108					12																	49950199		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950199T>C	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2515T>C	12.37:g.49950199T>C	ENSP00000257981:p.Phe839Leu						p.F839L	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			13	2775	+			839					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2515T>C	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153821	0.94645	.	.	ENSG00000135519	ENST00000257981	D	0.99239	-5.61	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000159	D	0.97885	0.9305	N	0.08118	0	0.39148	D	0.962164	P	0.49447	0.924	P	0.57776	0.827	D	0.98971	1.0801	10	0.44086	T	0.13	.	12.9803	0.58559	0.0:0.0:0.0:1.0	.	839	Q9ULD8	KCNH3_HUMAN	L	839	ENSP00000257981:F839L	ENSP00000257981:F839L	F	+	1	0	KCNH3	48236466	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.896000	0.63222	2.317000	0.78254	0.460000	0.39030	TTC		0.622	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		12	293	0	0	0	1	0	12	293					C	49950199	T	C	49950199	3	2	39	1	0	0	0	0	1	0	0	0	8063	1725	60	4	2565	4	KCNH3	12	49950199	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	24551915	49950199	83901696	49	4686											
SRRM4	84530	broad.mit.edu	37	chr12	119568524	119568524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagggcagaagtcccgccGaaggcactcccgccgctgct	14	15	0	1	rs559217766	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:119568524G>A	ENST00000267260.4	+	8	1044	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	219	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCCCGCCGAAGGCACTCC	0.657													G|||	3	0.000599042	0.0	0.0014	5008	,	,		12417	0.0		0.002	False		,,,				2504	0.0					ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(655-657)cGa>cAa		serine/arginine repetitive matrix 4							19	24	22					12																	119568524		1916	4105	6021	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568524G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.656G>A	12.37:g.119568524G>A	ENSP00000267260:p.Arg219Gln					SRRM4_ENST00000537597.1_3'UTR	p.R219Q	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1044	+			219			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.656G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360937	0.61403	.	.	ENSG00000139767	ENST00000267260	T	0.24723	1.84	5.07	4.18	0.49190	.	0.282843	0.28403	N	0.015470	T	0.25344	0.0616	L	0.50333	1.59	0.31952	N	0.609555	P	0.48998	0.918	B	0.44278	0.445	T	0.23119	-1.0197	10	0.25751	T	0.34	-2.736	10.6863	0.45846	0.0886:0.0:0.9114:0.0	.	219	A7MD48	SRRM4_HUMAN	Q	219	ENSP00000267260:R219Q	ENSP00000267260:R219Q	R	+	2	0	SRRM4	118052907	0.951000	0.32395	0.966000	0.40874	0.950000	0.60333	1.852000	0.39348	1.135000	0.42183	0.448000	0.29417	CGA		0.657	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	72	0	0	0	1	0	4	72					A	119568524	G	A	119568524	3	1	39	1	0	0	0	0	1	0	0	0	15223	1058	37	1	686	1	SRRM4	12	119568524	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	69618325	119568524	14283371	50	4687											
HPD	3242	broad.mit.edu	37	chr12	122292622	122292622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaccgtctgcagcacaGcaaacttcaccttcccaaac	4	17	3	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:122292622G>A	ENST00000289004.4	-	7	436	c.401C>T	c.(400-402)gCt>gTt	p.A134V	HPD_ENST00000543163.1_Missense_Mutation_p.A95V|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	134					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTGCAGCACAGCAAACTTCAC	0.597																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(283-285)gCt>gTt		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						214	182	193					12																	122292622		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292622G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.401C>T	12.37:g.122292622G>A	ENSP00000289004:p.Ala134Val					HPD_ENST00000289004.4_Missense_Mutation_p.A134V	p.A95V	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	729	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		134					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.284C>T	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665066	0.67700	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.65732	-0.17;-0.17	5.29	4.38	0.52667	.	0.301114	0.35151	N	0.003416	T	0.71702	0.3371	M	0.90425	3.115	0.80722	D	1	B	0.33280	0.405	B	0.37144	0.242	T	0.76599	-0.2900	10	0.87932	D	0	-7.5669	14.9723	0.71243	0.0:0.1435:0.8565:0.0	.	134	P32754	HPPD_HUMAN	V	134;131;95	ENSP00000289004:A134V;ENSP00000441677:A95V	ENSP00000289004:A134V	A	-	2	0	HPD	120777005	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	9.210000	0.95106	1.203000	0.43233	0.467000	0.42956	GCT		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		7	528	0	0	0	1	0	7	528					A	122292622	G	A	122292622	3	1	39	1	0	0	0	0	1	0	0	0	7362	971	34	2	812	2	HPD	12	122292622	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	2724098	122292622	11559273	51	4688											
IPO5	3843	broad.mit.edu	37	chr13	98671972	98671972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgtaaacgttgaagagGtccttccacactggttgtct	10	9	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:98671972G>T	ENST00000490680.1	+	24	3039	c.2974G>T	c.(2974-2976)Gtc>Ttc	p.V992F	IPO5_ENST00000539640.1_Missense_Mutation_p.V867F|IPO5_ENST00000261574.5_Missense_Mutation_p.V1010F			O00410	IPO5_HUMAN	importin 5	992					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTTGAAGAGGTCCTTCCACA	0.413																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(3028-3030)Gtc>Ttc		importin 5							149	135	140					13																	98671972		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98671972G>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2974G>T	13.37:g.98671972G>T	ENSP00000418393:p.Val992Phe					IPO5_ENST00000490680.1_Missense_Mutation_p.V992F|IPO5_ENST00000539640.1_Missense_Mutation_p.V867F	p.V1010F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			27	3208	+			992					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.3028G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.176764|2.176764	0.38413|0.38413	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16073	.|2.39;2.39;2.39;2.37	5.95|5.95	1.82|1.82	0.25136|0.25136	.|.	.|0.289846	.|0.38959	.|N	.|0.001514	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999997|0.999997	.|P	.|0.36048	.|0.534	.|B	.|0.43916	.|0.436	T|T	0.17349|0.17349	-1.0372|-1.0372	5|10	.|0.87932	.|D	.|0	-19.4383|-19.4383	11.6613|11.6613	0.51347|0.51347	0.2788:0.0:0.7212:0.0|0.2788:0.0:0.7212:0.0	.|.	.|1010	.|O00410-3	.|.	S|F	993|1010;992;992;867	.|ENSP00000261574:V1010F;ENSP00000350219:V992F;ENSP00000418393:V992F;ENSP00000445126:V867F	.|ENSP00000261574:V1010F	R|V	+|+	3|1	2|0	IPO5|IPO5	97469973|97469973	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.547000|0.547000	0.35210|0.35210	2.700000|2.700000	0.47085|0.47085	0.426000|0.426000	0.26116|0.26116	-0.145000|-0.145000	0.13849|0.13849	AGG|GTC		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		32	424	1	0	1.80694e-10	1	1.95007e-10	32	424					T	98671972	G	T	98671972	3	4	39	1	0	0	0	0	1	0	0	0	7826	1261	44	3	3126	3	IPO5	13	98671972	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		98671972	16497906	52	4689											
C13orf39	196541	broad.mit.edu	37	chr13	103343178	103343178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccctggccacaccacCgctccgtaactctctatgga	6	19	2	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:103343178C>T	ENST00000267273.6	-	2	272	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	89					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCACACCACCGCTCCGTAAC	0.453																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(265-267)gcG>gcA		methyltransferase like 21C							134	112	120					13																	103343178		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103343178C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.267G>A	13.37:g.103343178C>T							p.A89A	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			2	272	-			89						Silent	SNP	ENST00000267273.6	37	c.267G>A	CCDS32003.1																																																																																				0.453	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		21	181	0	0	0	1	0	21	181					T	103343178	C	T	103343178	2	4	39	1	0	0	0	0	0	0	0	1	1737	639	23	1		1	C13orf39	13	103343178	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	4671206	103343178	11826700	53	4690											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	8	306						8	306	---	---	---	---	A	75601712	-	A	75601711	8	5	39	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-3E-AAAY-01A-11D-A38G-08		75601711	31747829	54	4691											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	596						7	596	---	---	---	---	-	34393993	AGC	-	34393991	7	5	39	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-3E-AAAY-01A-11D-A38G-08		34393991	68137401	55	4692											
VPS13C	54832	broad.mit.edu	37	chr15	62283987	62283987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactttttccttaatttttgCccagaccgaatcacctgaaa	5	11	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383																																						ENST00000261517.5																			1	Substitution - coding silent(1)	p.G456G(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1366-1368)ggG>ggA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							125	131	129					15																	62283987		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62283987C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1368G>A	15.37:g.62283987C>T						VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	p.G456G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			17	1441	-			456						Silent	SNP	ENST00000261517.5	37	c.1368G>A	CCDS32257.1																																																																																				0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	503	0	0	0	1	0	6	503					T	62283987	C	T	62283987	2	4	39	1	0	0	0	0	0	0	0	1	17245	726	26	2		2	VPS13C	15	62283987	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	27889996	62283987	40247405	56	4693											
MAZ	4150	broad.mit.edu	37	chr16	29819148	29819148	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggcaagagcttctccCggtgtgcacggggcctcggc	15	13	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr16:29819148C>T	ENST00000322945.6	+	2	1207	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	MAZ_ENST00000568282.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Splice_Site_p.R348W|AC009133.14_ENST00000569981.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000545521.1_Splice_Site_p.R325W	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	348					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCTTCTCCCGGTGTGCACG	0.701																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.e2+1		MYC-associated zinc finger protein (purine-binding transcription factor)							20	22	21					16																	29819148		2035	4144	6179	SO:0001630	splice_region_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29819148C>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1043+1C>T	16.37:g.29819148C>T						MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Splice_Site_p.R325_splice|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000322945.6_Splice_Site_p.R348_splice	p.R348_splice	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			2	1148	+			348					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Splice_Site	SNP	ENST00000322945.6	37	c.1043_splice	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603964	0.66445	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.58210	3.17;3.17;0.35	2.69	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	L	0.60067	1.865	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.951;1.0	D;D;P;D	0.91635	0.996;0.999;0.818;0.998	T	0.64050	-0.6498	10	0.38643	T	0.18	-5.0701	11.6094	0.51052	0.0:1.0:0.0:0.0	.	325;113;348;348	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	W	325;348;348;123	ENSP00000443956:R325W;ENSP00000313362:R348W;ENSP00000219782:R348W	ENSP00000219782:R348W	R	+	1	2	MAZ	29726649	0.772000	0.28567	1.000000	0.80357	0.693000	0.40251	0.202000	0.17295	1.459000	0.47892	0.435000	0.28638	CGG		0.701	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383	Missense_Mutation	15	184	0	0	0	1	0	15	184					T	29819148	C	T	29819148	5	4	39	1	0	0	0	0	0	0	1	0	9381	666	23	1	1048	1	MAZ	16	29819148	Splice_Site	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		29819148	60535605	57	4694											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	403						7	403	---	---	---	---	-	17394707	CAG	-	17394705	7	5	39	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-3E-AAAY-01A-11D-A38G-08		17394705	63800505	58	4695											
COL1A1	1277	broad.mit.edu	37	chr17	48273541	48273541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcagcaccagtagcaCcatcatttccacgagcaccc	8	18	1	0	rs72645356		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:48273541C>T	ENST00000225964.5	-	15	1095	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	326	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACCAGTAGCACCATCATTTCC	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71	GRCh37	CM070721	COL1A1	M	rs72645356	c.(976-978)gGt>gAt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						39	41	40					17																	48273541		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273541C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.977G>A	17.37:g.48273541C>T	ENSP00000225964:p.Gly326Asp						p.G326D	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			15	1095	-			326			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.977G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334954	0.81801	.	.	ENSG00000108821	ENST00000225964	D	0.99619	-6.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96436	0.9323	10	0.87932	D	0	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	326	P02452	CO1A1_HUMAN	D	326	ENSP00000225964:G326D	ENSP00000225964:G326D	G	-	2	0	COL1A1	45628540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.382000	0.81193	0.650000	0.86243	GGT		0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			9	119	0	0	0	1	0	9	119					T	48273541	C	T	48273541	3	4	39	1	0	0	0	0	1	0	0	0	3686	507	18	2	3565	2	COL1A1	17	48273541	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	30878836	48273541	32921669	59	4696											
ACE	1636	broad.mit.edu	37	chr17	61558987	61558987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacctccctggagctcTcccccatgcctcccgagttc	6	20	3	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:61558987T>C	ENST00000290866.4	+	7	1030	c.1006T>C	c.(1006-1008)Tcc>Ccc	p.S336P	ACE_ENST00000538928.1_Missense_Mutation_p.S336P|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S336P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	336	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGGAGCTCTCCCCCATGCC	0.657																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1006-1008)Tcc>Ccc		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						48	47	47					17																	61558987		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61558987T>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1006T>C	17.37:g.61558987T>C	ENSP00000290866:p.Ser336Pro					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S336P|ACE_ENST00000428043.1_Missense_Mutation_p.S336P	p.S336P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			7	1030	+			336			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1006T>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	t	3.965	-0.009611	0.07727	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.32023	1.47;1.47;1.47	4.48	-4.34	0.03666	.	1.422290	0.04337	N	0.353487	T	0.12646	0.0307	N	0.04787	-0.16	0.09310	N	1	P;B;B	0.44006	0.824;0.283;0.008	B;B;B	0.33799	0.17;0.111;0.022	T	0.22800	-1.0206	10	0.30854	T	0.27	-0.4851	10.3367	0.43854	0.0:0.6211:0.1276:0.2513	.	336;336;336	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	P	336	ENSP00000439591:S336P;ENSP00000290866:S336P;ENSP00000397593:S336P	ENSP00000290866:S336P	S	+	1	0	ACE	58912719	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.457000	0.06745	-0.775000	0.04584	-0.360000	0.07572	TCC		0.657	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	120	0	0	0	1	0	4	120					C	61558987	T	C	61558987	3	2	39	1	0	0	0	0	1	0	0	0	136	1551	54	4	1032	4	ACE	17	61558987	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	13285446	61558987	19636223	60	4697											
SCN4A	6329	broad.mit.edu	37	chr17	62045516	62045516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataccatgtgtcattgccGtaccacgtgtcattgctgta	8	12	2	0	rs201411232		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:62045516G>A	ENST00000435607.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000578147.1_Silent_p.Y301Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCATTGCCGTACCACGTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20556	0.0		0.001	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(901-903)taC>taT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						289	283	285					17																	62045516		2178	4279	6457	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045516G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.903C>T	17.37:g.62045516G>A						SCN4A_ENST00000435607.1_Silent_p.Y301Y	p.Y301Y			P35499	SCN4A_HUMAN			6	979	-			301					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.903C>T	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	546	0	0	0	1	0	6	546					A	62045516	G	A	62045516	2	1	39	1	0	0	0	0	0	0	0	1	13970	1140	40	1		1	SCN4A	17	62045516	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	486529	62045516	19149694	61	4698											
KIAA0802	23255	broad.mit.edu	37	chr18	8784265	8784265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagtccccgggacagCgatgccgagagtgatgcggg	16	14	0	2	rs139433913		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:8784265C>T	ENST00000306329.11	+	5	2235	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	SOGA2_ENST00000359865.3_Silent_p.S385S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S385S|SOGA2_ENST00000517570.1_Silent_p.S385S																							CCCGGGACAGCGATGCCGAGA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16070	0.0		0.0	False		,,,				2504	0.0					ENST00000359865.3																			0											c.(1153-1155)agC>agT		SOGA family member 2		C		0,4402		0,0,2201	38	43	41		1155	-5.3	0.5	18	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CCDC165	NM_015210.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		385/1587	8784265	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	23255							g.chr18:8784265C>T																												ENST00000306329.11:c.2235C>T	18.37:g.8784265C>T						SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.S385S|SOGA2_ENST00000400050.3_Silent_p.S385S|SOGA2_ENST00000306329.11_Silent_p.S745S	p.S385S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1297	+			736						Silent	SNP	ENST00000306329.11	37	c.1155C>T																																																																																					0.677	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			5	159	0	0	0	1	0	5	159					T	8784265	C	T	8784265	2	4	39	1	0	0	0	0	0	0	0	1	8224	767	27	1		1	KIAA0802	18	8784265	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		8784265	69292983	62	4699											
ST8SIA5	29906	broad.mit.edu	37	chr18	44268880	44268880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcagcacctggacagagtaGacctgccaggcagggagaca	14	11	0	3	rs151163620		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:44268880G>C	ENST00000315087.7	-	4	974	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	105					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGACAGAGTAGACCTGCCAGG	0.587																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(313-315)tCt>tGt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							94	81	85					18																	44268880		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44268880G>C	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.314C>G	18.37:g.44268880G>C	ENSP00000321343:p.Ser105Cys					ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron	p.S105C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			4	974	-			105					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.314C>G	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120457	0.77323	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.48201	0.83;0.82;1.44	5.48	5.48	0.80851	.	0.108387	0.64402	D	0.000004	T	0.53867	0.1823	L	0.43152	1.355	0.50313	D	0.999867	P;P;P	0.52577	0.797;0.954;0.832	P;P;P	0.50440	0.641;0.57;0.625	T	0.56306	-0.8001	10	0.66056	D	0.02	.	19.345	0.94359	0.0:0.0:1.0:0.0	.	74;141;105	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	C	105;141;74	ENSP00000321343:S105C;ENSP00000445492:S141C;ENSP00000443683:S74C	ENSP00000321343:S105C	S	-	2	0	ST8SIA5	42522878	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.746000	0.74866	2.578000	0.87016	0.555000	0.69702	TCT		0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		6	169	0	0	0	1	0	6	169					C	44268880	G	C	44268880	3	2	39	1	0	0	0	0	1	0	0	0	15287	942	33	5	832	5	ST8SIA5	18	44268880	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	35484615	44268880	33808368	63	4700											
C19orf29	58509	broad.mit.edu	37	chr19	3612314	3612314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacaggtaggccttgccGgtgagtggcatctccacgct	13	14	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:3612314G>A	ENST00000429344.2	-	10	1936	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	CACTIN_ENST00000221899.3_Silent_p.T560T|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.T628T	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	628					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AGGCCTTGCCGGTGAGTGGCA	0.652																																						ENST00000429344.2																			0											c.(1882-1884)acC>acT		cactin, spliceosome C complex subunit							35	42	39					19																	3612314		2180	4271	6451	SO:0001819	synonymous_variant	58509							g.chr19:3612314G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1884C>T	19.37:g.3612314G>A						CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.T628T|CACTIN_ENST00000221899.3_Silent_p.T560T	p.T628T	NM_001080543.1	NP_001074012.1					10	1936	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.1884C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	4.579	0.107594	0.08780	.	.	ENSG00000226800	ENST00000447295	.	.	.	4.02	-8.04	0.01110	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.46222	D	0.998933	.	.	.	.	.	.	T	0.22487	-1.0215	5	0.11182	T	0.66	.	4.2327	0.10611	0.1452:0.2882:0.4183:0.1483	.	.	.	.	S	196	.	ENSP00000412459:G196S	G	+	1	0	C19orf29OS	3563314	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.464000	0.00230	-1.413000	0.02027	-0.986000	0.02555	GGT		0.652	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			4	182	0	0	0	1	0	4	182					A	3612314	G	A	3612314	2	1	39	1	0	0	0	0	0	0	0	1	1925	1103	39	1		1	C19orf29	19	3612314	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		3612314	55516669	64	4701											
RETN	56729	broad.mit.edu	37	chr19	7735211	7735211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggactggaccggagcGcgctgctgtcgtgtgcagcc	17	12	0	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:7735211G>A	ENST00000221515.2	+	4	391	c.303G>A	c.(301-303)gcG>gcA	p.A101A	RETN_ENST00000381324.2_Silent_p.A75A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	101					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						GGACCGGAGCGCGCTGCTGTC	0.706																																						ENST00000221515.2																			0				ovary(1)	1						c.(301-303)gcG>gcA		resistin							7	7	7					19																	7735211		2151	4211	6362	SO:0001819	synonymous_variant	56729						hormone activity	g.chr19:7735211G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.303G>A	19.37:g.7735211G>A						RETN_ENST00000381324.2_Silent_p.A75A	p.A101A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			4	391	+			101					D6W649|Q540D9|Q76B53	Silent	SNP	ENST00000221515.2	37	c.303G>A	CCDS12182.1																																																																																				0.706	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		4	41	0	0	0	1	0	4	41					A	7735211	G	A	7735211	2	1	39	1	0	0	0	0	0	0	0	1	13286	1074	38	1		1	RETN	19	7735211	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	4122897	7735211	51393772	65	4702											
OR7G2	390882	broad.mit.edu	37	chr19	9213690	9213690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagcatctttgggatcGtggttgtgcttaaacaaatg	10	8	2	0	rs371388820	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:9213690G>A	ENST00000305456.2	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTTGGGATCGTGGTTGTGCT	0.488													-|||	3	0.000599042	0.0	0.0	5008	,	,		21260	0.001		0.0	False		,,,				2504	0.002				Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(292-294)aCg>aTg		olfactory receptor, family 7, subfamily G, member 2		G	MET/THR	0,4406		0,0,2203	148	139	142		293	3.2	0.5	19		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR7G2	NM_001005193.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	98/346	9213690	1,13005	2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213690G>A		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.293C>T	19.37:g.9213690G>A	ENSP00000303822:p.Thr98Met						p.T98M	NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN			1	292	-			77					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.293C>T	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	4.837	0.155672	0.09236	0.0	1.16E-4	ENSG00000170923	ENST00000305456	T	0.00882	5.58	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.201904	0.23891	N	0.043541	T	0.01870	0.0059	M	0.87900	2.915	0.09310	N	1	P	0.49961	0.93	B	0.39379	0.298	T	0.41288	-0.9517	10	0.62326	D	0.03	.	8.3321	0.32193	0.1159:0.0:0.8841:0.0	.	77	Q8NG99	OR7G2_HUMAN	M	98	ENSP00000303822:T98M	ENSP00000303822:T98M	T	-	2	0	OR7G2	9074690	0.000000	0.05858	0.524000	0.27887	0.008000	0.06430	-0.287000	0.08388	2.145000	0.66743	0.494000	0.49563	ACG		0.488	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			25	402	0	0	0	1	0	25	402					A	9213690	G	A	9213690	3	1	39	1	0	0	0	0	1	0	0	0	11265	1145	40	1	746	1	OR7G2	19	9213690	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	1478479	9213690	49915293	66	4703											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		9	727	0	0	0	1	0	9	727					A	16006353	G	A	16006353	2	1	39	1	0	0	0	0	0	0	0	1	4199	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	6792663	16006353	43122630	67	4704											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-													agacatggtggagacggctgTttttggtactgagaacaacc							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301	275	284					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1211						7	1211	---	---	---	---	-	16908642	T	-	16908642	7	5	39	1	0	1	0	1	0	0	0	0	10823	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-3E-AAAY-01A-11D-A38G-08	902289	16908642	42220341	68	4705											
ABHD8	79575	broad.mit.edu	37	chr19	17412369	17412369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccagtggccccacggcGttggggggcgtgcccagcag	16	15	1	0	rs546146109		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:17412369G>A	ENST00000247706.3	-	2	296	c.57C>T	c.(55-57)aaC>aaT	p.N19N	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity (GO:0016787)	p.N19N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCCCACGGCGTTGGGGGGCG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15365	0.0		0.0	False		,,,				2504	0.0				Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			1	Substitution - coding silent(1)	p.N19N(1)	endometrium(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(55-57)aaC>aaT		abhydrolase domain containing 8							24	26	25					19																	17412369		2175	4219	6394	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17412369G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.57C>T	19.37:g.17412369G>A						MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.N19N	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	296	-			19					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.57C>T	CCDS12355.1																																																																																				0.652	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		12	108	0	0	0	1	0	12	108					A	17412369	G	A	17412369	2	1	39	1	0	0	0	0	0	0	0	1	87	1136	40	1		1	ABHD8	19	17412369	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	503727	17412369	41716614	69	4706											
PDE4C	5143	broad.mit.edu	37	chr19	18331091	18331091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccggagcggctggtttcGgacaggtgggtcaactcccg	15	12	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:18331091G>A	ENST00000355502.3	-	11	1618	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PDE4C_ENST00000262805.12_Silent_p.S217S|PDE4C_ENST00000594617.3_Silent_p.S249S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000597297.1_Silent_p.S19S|PDE4C_ENST00000447275.3_Silent_p.S143S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGCTGGTTTCGGACAGGTGGG	0.597																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(745-747)tcC>tcT		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						96	101	99					19																	18331091		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331091G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.747C>T	19.37:g.18331091G>A						PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000594617.2_Silent_p.S249S|PDE4C_ENST00000447275.2_Silent_p.S143S|PDE4C_ENST00000594465.2_Silent_p.S249S|PDE4C_ENST00000262805.11_Silent_p.S217S|AC068499.10_ENST00000594805.2_RNA	p.S249S			Q08493	PDE4C_HUMAN			11	1618	-			249					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.747C>T	CCDS12373.1																																																																																				0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			7	619	0	0	0	1	0	7	619					A	18331091	G	A	18331091	2	1	39	1	0	0	0	0	0	0	0	1	11683	1103	39	1		1	PDE4C	19	18331091	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	918722	18331091	40797892	70	4707											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	391	0	0	0	1	0	5	391					T	21606468	C	T	21606468	3	4	39	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	3275377	21606468	37522515	71	4708											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647799	51647799	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatggggacctctgtgtcCcccctgcacccctccaccac	9	19	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:51647799C>G	ENST00000317643.6	+	2	639	c.570C>G	c.(568-570)tcC>tcG	p.S190S	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCTGTGTCCCCCCTGCACC	0.662																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(568-570)tcC>tcG		sialic acid binding Ig-like lectin 7							87	86	87					19																	51647799		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647799C>G	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.570C>G	19.37:g.51647799C>G						SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.S190S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	639	+		all_neural(266;0.0199)	190			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.570C>G	CCDS12826.1																																																																																				0.662	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		20	374	0	0	0	1	0	20	374					G	51647799	C	G	51647799	2	3	39	1	0	0	0	0	0	0	0	1	14363	610	22	5		5	SIGLEC7	19	51647799	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	30041331	51647799	7481184	72	4709											
ZNF613	79898	broad.mit.edu	37	chr19	52448449	52448449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaggcttcaGccagaagacatgtttaatat	11	5	1	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:52448449G>A	ENST00000293471.6	+	6	1992	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGGCTTCAGCCAGAAGACA	0.443																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1312-1314)aGc>aAc		zinc finger protein 613							83	77	79					19																	52448449		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448449G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1313G>A	19.37:g.52448449G>A	ENSP00000293471:p.Ser438Asn					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N	p.S438N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1992	+		all_neural(266;0.117)	438					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1313G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238490	0.58886	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.19394	2.15;2.15	3.36	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.331298	0.22091	N	0.064756	T	0.25901	0.0631	L	0.35854	1.095	0.20764	N	0.99985	D	0.63046	0.992	P	0.59288	0.855	T	0.03043	-1.1079	10	0.59425	D	0.04	.	6.1129	0.20110	0.1094:0.1914:0.6992:0.0	.	438	Q6PF04	ZN613_HUMAN	N	438;402;112	ENSP00000293471:S438N;ENSP00000375671:S402N	ENSP00000293471:S438N	S	+	2	0	ZNF613	57140261	0.000000	0.05858	0.970000	0.41538	0.981000	0.71138	-0.130000	0.10498	0.756000	0.33013	0.655000	0.94253	AGC		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		26	319	0	0	0	1	0	26	319					A	52448449	G	A	52448449	3	1	39	1	0	0	0	0	1	0	0	0	18091	971	34	2	1327	2	ZNF613	19	52448449	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	800650	52448449	6680534	73	4710											
NLRP2	55655	broad.mit.edu	37	chr19	55501405	55501405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggttggtgtcttgttcCgctaccactcagcagtgggc	12	12	2	0	rs148932752		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:55501405C>T	ENST00000543010.1	+	9	2525	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000391721.4_Silent_p.S770S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000339757.7_Silent_p.S772S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	794					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTCTTGTTCCGCTACCACTC	0.512																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2380-2382)tcC>tcT		NLR family, pyrin domain containing 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	112	99	103		2382,2316,2313,2382	-5	0	19	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	794/1063,772/1041,771/1040,794/1063	55501405	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501405C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2382C>T	19.37:g.55501405C>T						NLRP2_ENST00000391721.4_Silent_p.S770S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000339757.7_Silent_p.S772S|NLRP2_ENST00000538819.1_Silent_p.S770S	p.S794S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2525	+			794					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2382C>T	CCDS12913.1																																																																																				0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		23	257	0	0	0	1	0	23	257					T	55501405	C	T	55501405	2	4	39	1	0	0	0	0	0	0	0	1	10519	639	23	1		1	NLRP2	19	55501405	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	3052956	55501405	3627578	74	4711											
DEFB119	245932	broad.mit.edu	37	chr20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatagaggtagggctgttCgttctttttgcaagaggccc	13	8	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433																																						ENST00000376321.3																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(127-129)Gaa>Aaa		defensin, beta 119							201	183	189					20																	29965177		2203	4300	6503	SO:0001583	missense	245932				defense response to bacterium	extracellular region		g.chr20:29965177C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.127G>A	20.37:g.29965177C>T	ENSP00000365499:p.Glu43Lys					DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	p.E43K	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	246	-	all_hematologic(12;0.158)		43					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.127G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596310	0.46318	.	.	ENSG00000180483	ENST00000376321	T	0.73575	-0.76	4.31	4.31	0.51392	.	.	.	.	.	D	0.84946	0.5585	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86218	0.1629	8	0.87932	D	0	.	12.5997	0.56491	0.0:1.0:0.0:0.0	.	43	Q8N690	DB119_HUMAN	K	43	ENSP00000365499:E43K	ENSP00000365499:E43K	E	-	1	0	DEFB119	29428838	0.471000	0.25862	0.184000	0.23157	0.007000	0.05969	1.525000	0.35953	2.678000	0.91216	0.655000	0.94253	GAA		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		33	602	0	0	0	1	0	33	602					T	29965177	C	T	29965177	3	4	39	1	0	0	0	0	1	0	0	0	4422	893	31	1	131	1	DEFB119	20	29965177	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		29965177	33060343	75	4712											
TRAPPC10	7109	broad.mit.edu	37	chr21	45478983	45478983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgtatcttgggcgaataGgaggagcttgcctttgtttt	12	6	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr21:45478983G>A	ENST00000291574.4	+	6	853		c.e6-1		TRAPPC10_ENST00000380221.3_Splice_Site	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10						sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGGGCGAATAGGAGGAGCTTG	0.448																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.e6-1		trafficking protein particle complex 10							69	62	64					21																	45478983		2203	4300	6503	SO:0001630	splice_region_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45478983G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.679-1G>A	21.37:g.45478983G>A						TRAPPC10_ENST00000380221.3_Splice_Site		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			6	853	+								Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Splice_Site	SNP	ENST00000291574.4	37		CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763268	0.69763	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8261	0.92119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC10	44303411	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	9.523000	0.98034	2.443000	0.82685	0.561000	0.74099	.		0.448	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	Intron	15	251	0	0	0	1	0	15	251					A	45478983	G	A	45478983	5	1	39	1	0	0	0	0	0	0	1	0	16510	1014	35	2	700	2	TRAPPC10	21	45478983	Splice_Site	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		45478983	2650912	76	4713											
TFE3	7030	broad.mit.edu	37	chrX	48887952	48887952	+	Frame_Shift_Del	DEL	C	C	-													ggggagcattctgggcaggtCccccccctacatggaacgtt							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:48887952delC	ENST00000315869.7	-	10	1704	c.1445delG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGGGCAGGTCCCCCCCCTAC	0.647			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gafs		transcription factor binding to IGHM enhancer 3							80	76	78					X																	48887952		2203	4299	6502	SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887952delC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1445delG	X.37:g.48887952delC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.G482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Del	DEL	ENST00000315869.7	37	c.1445delG	CCDS14315.3																																																																																				0.647	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		7	169						7	169	---	---	---	---	-	48887952	C	-	48887952	7	5	39	1	0	1	0	1	0	0	0	0	15852	855	30	0	286	0	TFE3	23	48887952	Frame_Shift_Del	DEL	C	TCGA-3E-AAAY-01A-11D-A38G-08		48887952	106382608	77	4714											
KIF4A	24137	broad.mit.edu	37	chrX	69615826	69615826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcccttactgaagtgCgtggtcaagtttcggagtca	10	10	3	1	rs200516198		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:69615826C>T	ENST00000374403.3	+	22	2498	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C|RNY4P23_ENST00000364507.1_RNA	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	806	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398													C|||	1	0.000264901	0.0	0.0	3775	,	,		13713	0.0		0.001	False		,,,				2504	0.0					ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2416-2418)Cgt>Tgt		kinesin family member 4A							73	63	67					X																	69615826		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69615826C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2416C>T	X.37:g.69615826C>T	ENSP00000363524:p.Arg806Cys					KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C	p.R806C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			22	2498	+			806			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2416C>T	CCDS14401.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.236	0.411750	0.11812	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69806	-0.43;-0.37	4.78	3.92	0.45320	.	0.641178	0.13965	N	0.350586	T	0.35682	0.0940	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	.	.	.	.	7.9061	0.29763	0.0:0.886:0.0:0.114	.	806	O95239	KIF4A_HUMAN	C	806;806;108	ENSP00000363509:R806C;ENSP00000363524:R806C	.	R	+	1	0	KIF4A	69532551	0.999000	0.42202	0.001000	0.08648	0.223000	0.24884	3.801000	0.55545	1.133000	0.42147	0.594000	0.82650	CGT		0.398	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		4	119	0	0	0	1	0	4	119					T	69615826	C	T	69615826	3	4	39	1	0	0	0	0	1	0	0	0	8333	768	27	1	2498	1	KIF4A	23	69615826	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	20727874	69615826	85654734	78	4715											
SRPX2	27286	broad.mit.edu	37	chrX	99925874	99925874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtattgaccgagacCgctacatggaacctgtcacc	11	12	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:99925874C>T	ENST00000373004.3	+	11	1716	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	430					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGACCGAGACCGCTACATGGA	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1288-1290)Cgc>Tgc		sushi-repeat containing protein, X-linked 2							164	126	138					X																	99925874		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925874C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1288C>T	X.37:g.99925874C>T	ENSP00000362095:p.Arg430Cys		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.R430C	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			11	1716	+			430					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1288C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590739	0.86851	.	.	ENSG00000102359	ENST00000373004	T	0.54071	0.59	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76756	-0.2842	9	.	.	.	-14.007	17.6638	0.88198	0.0:1.0:0.0:0.0	.	430	O60687	SRPX2_HUMAN	C	430	ENSP00000362095:R430C	.	R	+	1	0	SRPX2	99812530	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.063000	0.64332	2.357000	0.79964	0.523000	0.50628	CGC		0.512	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		24	142	0	0	0	1	0	24	142					T	99925874	C	T	99925874	3	4	39	1	0	0	0	0	1	0	0	0	15217	652	23	1	1326	1	SRPX2	23	99925874	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	30310048	99925874	55344686	79	4716											
MEGF6	1953	broad.mit.edu	37	chr1	3411193	3411193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccagctcgcagtgccgCcccgtccagcccaggccaca	9	21	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:3411193C>T	ENST00000356575.4	-	31	4210	c.3984G>A	c.(3982-3984)ggG>ggA	p.G1328G	MEGF6_ENST00000294599.4_Silent_p.G1093G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1328	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCAGTGCCGCCCCGTCCAGC	0.711																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3982-3984)ggG>ggA		multiple EGF-like-domains 6							7	11	10					1																	3411193		1995	4096	6091	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3411193C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3984G>A	1.37:g.3411193C>T						MEGF6_ENST00000294599.4_Silent_p.G1093G	p.G1328G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	31	4210	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1328			EGF-like 24.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3984G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369662	0.01225	.	.	ENSG00000162591	ENST00000491842	D	0.82619	-1.63	3.72	0.574	0.17368	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	.	.	.	0.53005	D	0.999965	.	.	.	.	.	.	D	0.84086	0.0387	7	0.66056	D	0.02	-26.2078	9.8377	0.40980	0.0:0.499:0.4156:0.0854	.	.	.	.	D	102	ENSP00000420386:G102D	ENSP00000420386:G102D	G	-	2	0	MEGF6	3401053	0.000000	0.05858	0.089000	0.20774	0.012000	0.07955	-0.398000	0.07259	0.312000	0.23038	0.462000	0.41574	GGC		0.711	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	12	0	0	0	1	0	3	12					T	3411193	C	T	3411193	2	4	40	1	0	0	0	0	0	0	0	1	9503	726	26	2		2	MEGF6	1	3411193	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		3411193	245839428	1	4717											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	211						8	211	---	---	---	---	-	77334279	GCA	-	77334277	7	5	40	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-3E-AAAZ-01A-11D-A38G-08	73923084	77334277	171916344	2	4718											
KIRREL	55243	broad.mit.edu	37	chr1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-													cctgtgtctgggttgggaatCcccccctcactctcacctgg					rs548707549		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:158058203delC	ENST00000359209.6	+	8	1070	c.1003delC	c.(1003-1005)cccfs	p.P336fs	KIRREL_ENST00000368173.3_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.P233fs|KIRREL_ENST00000368172.1_Frame_Shift_Del_p.P134fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.P236fs|KIRREL_ENST00000360089.4_Frame_Shift_Del_p.P172fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	336	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGTTGGGAATCCCCCCCTCAC	0.453																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(397-399)ccfs		kin of IRRE like (Drosophila)							111	109	110					1																	158058203		2203	4300	6503	SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058203delC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1003delC	1.37:g.158058203delC	ENSP00000352138:p.Pro336fs					KIRREL_ENST00000368173.3_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.P236fs|KIRREL_ENST00000359209.6_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.P233fs|KIRREL_ENST00000360089.4_Frame_Shift_Del_p.P172fs	p.P134fs			Q96J84	KIRR1_HUMAN			4	409	+	all_hematologic(112;0.0378)		336			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Del	DEL	ENST00000359209.6	37	c.397delC	CCDS1172.2																																																																																				0.453	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	628						11	628	---	---	---	---	-	158058203	C	-	158058203	7	5	40	1	0	1	0	1	0	0	0	0	8354	855	30	0	1033	0	KIRREL	1	158058203	Frame_Shift_Del	DEL	C	TCGA-3E-AAAZ-01A-11D-A38G-08	80723926	158058203	91192418	3	4719											
SPTA1	6708	broad.mit.edu	37	chr1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	7	15	3	1	rs375618954		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					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)			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)					TGAGCCAGCCGCAACTGGATC	0.522																																						ENST00000368148.3																			0				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						c.(5377-5379)Cgg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	TRP/ARG	0,3960		0,0,1980	116	123	121		5377	3.6	1	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense	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.chr1:158605758G>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.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1793W	p.R1793W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)		1793					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	639	0	0	0	1	0	6	639					A	158605758	G	A	158605758	3	1	40	1	0	0	0	0	1	0	0	0	15168	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	547555	158605758	90644863	4	4720											
CDC73	79577	broad.mit.edu	37	chr1	193111023	193111023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaattgctgcaatcAaagccaaaattatggctaag	8	6	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193111023A>G	ENST00000367435.3	+	7	740	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	186				AIKA -> CNQT (in Ref. 2; BAB15608). {ECO:0000305}.	cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCTGCAATCAAAGCCAAAAT	0.363																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(556-558)Aaa>Gaa		cell division cycle 73							54	49	51					1																	193111023		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111023A>G	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.556A>G	1.37:g.193111023A>G	ENSP00000356405:p.Lys186Glu						p.K186E	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	740	+			186	AIKA -> CNQT (in Ref. 2; BAB15608).				A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.556A>G	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913112	0.92178	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.89617	-2.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.94174	0.7426	10	0.56958	D	0.05	-23.6629	16.5582	0.84512	1.0:0.0:0.0:0.0	.	186	Q6P1J9	CDC73_HUMAN	E	186	ENSP00000356405:K186E	ENSP00000356405:K186E	K	+	1	0	CDC73	191377646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.308000	0.77769	0.533000	0.62120	AAA		0.363	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		35	205	0	0	0	1	0	35	205					G	193111023	A	G	193111023	3	3	40	1	0	0	0	0	1	0	0	0	3094	131	5	4	582	4	CDC73	1	193111023	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	34505265	193111023	56139598	5	4721											
CDC73	79577	broad.mit.edu	37	chr1	193172923	193172949	+	Splice_Site	DEL	AGGAGGGTGCATCTGCCCGGAAGACTC	AGGAGGGTGCATCTGCCCGGAAGACTC	-													atcaattcttattcttttaaAggagggtgcatctgcccgga					rs149875598		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC	ENST00000367435.3	+	11	1156_1181	c.972_997delAGGAGGGTGCATCTGCCCGGAAGACTC	c.(970-999)acaggagggtgcatctgcccggaagactca>acca	p.GGCICPEDS325del		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	325	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R330L(1)|p.R330R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATTCTTTTAAAGGAGGGTGCATCTGCCCGGAAGACTCAGACTCCTGC	0.352																																						ENST00000367435.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R330L(1)|p.R330R(1)	lung(2)	breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.e11-1		cell division cycle 73																																				SO:0001630	splice_region_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.973-1AGGAGGGTGCATCTGCCCGGAAGACTC>-	1.37:g.193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC							p.T325_splice	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			11	1156_1181	+			325					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Splice_Site	DEL	ENST00000367435.3	37	c.972_splice	CCDS1382.1																																																																																				0.352	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	In_Frame_Del	9	214						9	214	---	---	---	---	-	193172949	AGGAGGGTGCATCTGCCCGGAAGACTC	-	193172923	8	5	40	1	0	1	0	1	0	0	1	0	3094	86	3	0	1013	0	CDC73	1	193172923	Splice_Site	DEL	AGGAGGGTGCATCTGCCCGGAAGACTC	TCGA-3E-AAAZ-01A-11D-A38G-08	61900	193172923	56077698	6	4722											
CFHR2	3080	broad.mit.edu	37	chr1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacgtgcgcagaagaag	9	9	1	2	rs144596551		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393																																						ENST00000367415.4																			1	Substitution - Missense(1)	p.R69H(1)	ovary(1)	large_intestine(2)|ovary(1)|skin(3)	6						c.(205-207)cGc>cAc		complement factor H-related 2							97	87	90					1																	196918732		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918732G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His					CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H	p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			2	320	+			69			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.206G>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC		0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		6	545	0	0	0	1	0	6	545					A	196918732	G	A	196918732	3	1	40	1	0	0	0	0	1	0	0	0	3294	1087	38	1	212	1	CFHR2	1	196918732	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	3745809	196918732	52331889	7	4723											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		4	329	0	0	0	1	0	4	329					C	203821424	T	C	203821424	3	2	40	1	0	0	0	0	1	0	0	0	17613	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	6902692	203821424	45429197	8	4724											
NUAK2	81788	broad.mit.edu	37	chr1	205273036	205273036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatccccactcacaaacaCgtcgcctgcgtccaagagct	9	16	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:205273036C>T	ENST00000367157.3	-	7	1555	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCACAAACACGTCGCCTGCG	0.587																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1429-1431)Gtg>Atg		NUAK family, SNF1-like kinase, 2							38	37	38					1																	205273036		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205273036C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1429G>A	1.37:g.205273036C>T	ENSP00000356125:p.Val477Met						p.V477M	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1555	-	Breast(84;0.186)		477						Missense_Mutation	SNP	ENST00000367157.3	37	c.1429G>A	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567476	0.28003	.	.	ENSG00000163545	ENST00000367157	T	0.72282	-0.64	4.86	4.86	0.63082	.	0.000000	0.40640	N	0.001045	T	0.69187	0.3083	L	0.60455	1.87	0.28049	N	0.933438	D	0.64830	0.994	P	0.52159	0.691	T	0.65911	-0.6053	10	0.37606	T	0.19	.	4.1079	0.10045	0.1634:0.5906:0.158:0.088	.	477	Q9H093	NUAK2_HUMAN	M	477	ENSP00000356125:V477M	ENSP00000356125:V477M	V	-	1	0	NUAK2	203539659	0.846000	0.29590	0.989000	0.46669	0.173000	0.22820	1.357000	0.34090	2.234000	0.73211	0.407000	0.27541	GTG		0.587	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		21	180	0	0	0	1	0	21	180					T	205273036	C	T	205273036	3	4	40	1	0	0	0	0	1	0	0	0	10755	536	19	1	461	1	NUAK2	1	205273036	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1451612	205273036	43977585	9	4725											
ANGEL2	90806	broad.mit.edu	37	chr1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggtttccttcctgtccGcatcttatattcacagtgat	6	11	3	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)Cgg>Tgg		angel homolog 2 (Drosophila)							93	99	97					1																	213178773		2189	4299	6488	SO:0001583	missense	90806							g.chr1:213178773G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.736C>T	1.37:g.213178773G>A	ENSP00000355929:p.Arg246Trp					ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W	p.R246W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	890	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.736C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682310	0.68042	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95724	-3.79;-3.6;-3.6;-3.79;-3.6	5.45	2.42	0.29668	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.97798	0.9277	M	0.93420	3.415	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96627	0.9464	10	0.59425	D	0.04	-10.8417	8.9311	0.35670	0.072:0.0:0.4718:0.4562	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	W	246;77;77;120;77	ENSP00000355929:R246W;ENSP00000353696:R77W;ENSP00000443193:R77W;ENSP00000446124:R120W;ENSP00000438141:R77W	ENSP00000353696:R77W	R	-	1	2	ANGEL2	211245396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.237000	0.32695	0.297000	0.22615	0.650000	0.86243	CGG		0.368	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		6	537	0	0	0	1	0	6	537					A	213178773	G	A	213178773	3	1	40	1	0	0	0	0	1	0	0	0	609	1086	38	1	918	1	ANGEL2	1	213178773	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	7905737	213178773	36071848	10	4726											
URB2	9816	broad.mit.edu	37	chr1	229763503	229763503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcttccaaataaagaAcaagtaagtttaatgtgaaa	6	5	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:229763503A>G	ENST00000258243.2	+	2	259	c.123A>G	c.(121-123)gaA>gaG	p.E41E	TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000477957.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	41						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAATAAAGAACAAGTAAGTT	0.294																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(121-123)gaA>gaG		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							77	87	84					1																	229763503		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229763503A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.123A>G	1.37:g.229763503A>G							p.E41E	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			2	259	+			41					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.123A>G	CCDS31052.1																																																																																				0.294	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	506	0	0	0	1	0	8	506					G	229763503	A	G	229763503	2	3	40	1	0	0	0	0	0	0	0	1	17079	40	2	4		4	URB2	1	229763503	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	16584730	229763503	19487118	11	4727											
NLRP3	114548	broad.mit.edu	37	chr1	247587616	247587616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacccatccacaagatcGtgagaaaaccctccagaatc	5	16	0	3	rs145092553		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:247587616G>A	ENST00000336119.3	+	3	1617	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000366497.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCACAAGATCGTGAGAAAACC	0.562																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(871-873)Gtg>Atg		NLR family, pyrin domain containing 3		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	71	72	72		871,871,871,871,871	-3.9	0.1	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	291/1037,291/980,291/980,291/1037,291/923	247587616	1,13005	2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587616G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.871G>A	1.37:g.247587616G>A	ENSP00000337383:p.Val291Met					NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000336119.3_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M	p.V291M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1651	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	291			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.871G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.746010	0.03065	0.0	1.16E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.04	-3.93	0.04143	NACHT nucleoside triphosphatase (1);	0.890365	0.09442	N	0.801583	T	0.51381	0.1671	N	0.13003	0.285	0.09310	N	1	B;B;P;B;B	0.40602	0.07;0.057;0.723;0.194;0.038	B;B;B;B;B	0.31495	0.025;0.015;0.131;0.04;0.028	T	0.51764	-0.8664	10	0.16420	T	0.52	.	2.6671	0.05056	0.1107:0.4328:0.1811:0.2754	.	291;291;291;291;291	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	291	ENSP00000375704:V291M;ENSP00000355453:V291M;ENSP00000337383:V291M;ENSP00000294752:V291M;ENSP00000355452:V291M;ENSP00000375703:V291M	ENSP00000337383:V291M	V	+	1	0	NLRP3	245654239	0.004000	0.15560	0.095000	0.20976	0.012000	0.07955	0.080000	0.14802	-0.743000	0.04784	0.563000	0.77884	GTG		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		166	291	0	0	0	1	0	166	291					A	247587616	G	A	247587616	3	1	40	1	0	0	0	0	1	0	0	0	10520	1145	40	1	881	1	NLRP3	1	247587616	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	17824113	247587616	1663005	12	4728											
GREB1	9687	broad.mit.edu	37	chr2	11780474	11780474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgccagacggtcgtccGcctggagctcgaggacgagt	15	13	0	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:11780474G>A	ENST00000381486.2	+	33	6044	c.5744G>A	c.(5743-5745)cGc>cAc	p.R1915H	GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1915						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGTCGTCCGCCTGGAGCTC	0.622																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5743-5745)cGc>cAc		growth regulation by estrogen in breast cancer 1							47	54	52					2																	11780474		2036	4175	6211	SO:0001583	missense	9687					integral to membrane		g.chr2:11780474G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5744G>A	2.37:g.11780474G>A	ENSP00000370896:p.Arg1915His					GREB1_ENST00000396123.1_Missense_Mutation_p.R913H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H	p.R1915H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6044	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1915					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5744G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412272	0.96072	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.72;2.72;1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62039	-0.6938	10	0.87932	D	0	-33.8736	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1915	Q4ZG55	GREB1_HUMAN	H	1915;1915;913	ENSP00000370896:R1915H;ENSP00000234142:R1915H;ENSP00000379429:R913H	ENSP00000234142:R1915H	R	+	2	0	GREB1	11697925	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.227000	0.95236	2.316000	0.78162	0.563000	0.77884	CGC		0.622	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		50	231	0	0	0	1	0	50	231					A	11780474	G	A	11780474	3	1	40	1	0	0	0	0	1	0	0	0	6790	1087	38	1	5978	1	GREB1	2	11780474	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		11780474	231418899	13	4729											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-													actcgctccgacttaggcctTggtggtggtggtggaagaga							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1405-1410)caa>ca		RAB11 family interacting protein 5 (class I)																																				SO:0001651	inframe_deletion	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315337_73315339delTGG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1407_1409delCCA	2.37:g.73315346_73315348delTGG	ENSP00000258098:p.His469del					RAB11FIP5_ENST00000493523.2_5'UTR	p.HQ469del	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1647_1649	-			469					O94939|Q9P0M1	In_Frame_Del	DEL	ENST00000258098.6	37	c.1407_1409delCCA	CCDS1923.1																																																																																				0.635	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		7	707						7	707	---	---	---	---	-	73315339	TGG	-	73315337	7	5	40	1	0	1	0	1	0	0	0	0	12947	1812	63	0	564	0	RAB11FIP5	2	73315337	In_Frame_Del	DEL	TGG	TCGA-3E-AAAZ-01A-11D-A38G-08	61534863	73315337	169884036	14	4730											
GIGYF2	26058	broad.mit.edu	37	chr2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-													gtcagcagcagcagctgccaCagcagcagcagcagcagccg					rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547																																						ENST00000373566.3																			3	Deletion - In frame(3)	p.Q1216delQ(2)|p.Q1237delQ(1)	breast(2)|ovary(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3697-3699)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233712228_233712230delCAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del					GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del	p.Q1238del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3894_3896	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1216			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3697_3699delCAG	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		8	396						8	396	---	---	---	---	-	233712230	CAG	-	233712228	7	5	40	1	0	1	0	1	0	0	0	0	6407	479	17	0	3799	0	GIGYF2	2	233712228	In_Frame_Del	DEL	CAG	TCGA-3E-AAAZ-01A-11D-A38G-08	160396891	233712228	9487145	15	4731											
DTYMK	1841	broad.mit.edu	37	chr2	242625239	242625239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccgagtgatcctccacgtCacttttcttttgcaagtagg	8	12	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:242625239C>T	ENST00000305784.2	-	2	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	62					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		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;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)		TCCTCCACGTCACTTTTCTTT	0.438																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(184-186)Gac>Aac		deoxythymidylate kinase (thymidylate kinase)							175	167	170					2																	242625239		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625239C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.184G>A	2.37:g.242625239C>T	ENSP00000304802:p.Asp62Asn					DTYMK_ENST00000493095.1_5'UTR	p.D62N	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)	2	391	-		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)	62					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.184G>A	CCDS2552.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205171	0.09704	.	.	ENSG00000168393	ENST00000305784	T	0.41400	1.0	5.34	3.25	0.37280	.	0.614711	0.18111	N	0.151344	T	0.16085	0.0387	N	0.03881	-0.34	0.21220	N	0.999754	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.17107	-1.0380	10	0.17369	T	0.5	-13.2689	4.2064	0.10490	0.0:0.531:0.2149:0.2541	.	62;62	B7ZW70;P23919	.;KTHY_HUMAN	N	62	ENSP00000304802:D62N	ENSP00000304802:D62N	D	-	1	0	DTYMK	242273912	0.986000	0.35501	0.013000	0.15412	0.357000	0.29423	2.433000	0.44793	1.216000	0.43427	0.655000	0.94253	GAC		0.438	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		251	999	0	0	0	1	0	251	999					T	242625239	C	T	242625239	3	4	40	1	0	0	0	0	1	0	0	0	4814	826	29	2	470	2	DTYMK	2	242625239	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	8913011	242625239	574134	16	4732											
CHL1	10752	broad.mit.edu	37	chr3	439920	439920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttcttaggtaaaggtatCgggaagatatcaggagtaaa	11	4	2	1	rs373156471		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:439920C>T	ENST00000256509.2	+	25	3747	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	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.I1035I(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)		GTAAAGGTATCGGGAAGATAT	0.353																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.I1035I(1)	large_intestine(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						c.(3103-3105)atC>atT		cell adhesion molecule L1-like		C		1,4405	2.1+/-5.4	0,1,2202	59	58	58		3105	4.8	1	3		58	0,8600		0,0,4300	no	coding-synonymous	CHL1	NM_006614.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1035/1225	439920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439920C>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.3105C>T	3.37:g.439920C>T						CHL1_ENST00000397491.2_Silent_p.I1019I	p.I1035I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	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)	25	3747	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1019					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.3105C>T	CCDS2556.1																																																																																				0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		32	162	0	0	0	1	0	32	162					T	439920	C	T	439920	2	4	40	1	0	0	0	0	0	0	0	1	3358	874	31	1		1	CHL1	3	439920	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		439920	197582510	17	4733											
ATG7	10533	broad.mit.edu	37	chr3	11372876	11372876	+	Frame_Shift_Del	DEL	T	T	-													cctggatggcctttgaggaaTtttttggtcctagcagccca							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:11372876delT	ENST00000354449.3	+	8	766	c.741delT	c.(739-741)aatfs	p.N247fs	ATG7_ENST00000354956.5_Frame_Shift_Del_p.N247fs|ATG7_ENST00000446450.2_Frame_Shift_Del_p.N208fs	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	247					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTTGAGGAATTTTTTGGTCC	0.403																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(739-741)aafs		autophagy related 7							319	308	312					3																	11372876		2203	4300	6503	SO:0001589	frameshift_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11372876delT	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.741delT	3.37:g.11372876delT	ENSP00000346437:p.Asn247fs					ATG7_ENST00000446450.2_Frame_Shift_Del_p.N208fs|ATG7_ENST00000354956.5_Frame_Shift_Del_p.N247fs	p.N247fs	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			8	766	+			247					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Frame_Shift_Del	DEL	ENST00000354449.3	37	c.741delT	CCDS2605.1																																																																																				0.403	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		7	735						7	735	---	---	---	---	-	11372876	T	-	11372876	7	5	40	1	0	1	0	1	0	0	0	0	1102	1490	52	0	767	0	ATG7	3	11372876	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	10932956	11372876	186649554	18	4734											
DLEC1	9940	broad.mit.edu	37	chr3	38103746	38103746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgaacaagaagcttgaaGattcatgcaggaagaagctt	11	6	1	5			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:38103746G>T	ENST00000308059.6	+	4	781	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGCTTGAAGATTCATGCAG	0.463																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(760-762)Gat>Tat		deleted in lung and esophageal cancer 1							97	89	92					3																	38103746		1973	4173	6146	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38103746G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.760G>T	3.37:g.38103746G>T	ENSP00000308597:p.Asp254Tyr					DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y	p.D254Y			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	4	781	+			254						Missense_Mutation	SNP	ENST00000308059.6	37	c.760G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040773	0.19669	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.47;3.46;3.7	3.67	1.69	0.24217	.	1.190300	0.06148	N	0.673614	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35714	0.333;0.517;0.333	B;B;B	0.35413	0.187;0.202;0.187	T	0.40739	-0.9547	10	0.62326	D	0.03	-0.079	9.4496	0.38719	0.0:0.4281:0.5719:0.0	.	254;254;254	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Y	254	ENSP00000308597:D254Y;ENSP00000315914:D254Y;ENSP00000410427:D254Y	ENSP00000308597:D254Y	D	+	1	0	DLEC1	38078750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.182000	0.16900	0.455000	0.26910	0.655000	0.94253	GAT		0.463	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		17	219	1	0	5.3912e-06	1	5.64793e-06	17	219					T	38103746	G	T	38103746	3	4	40	1	0	0	0	0	1	0	0	0	4568	942	33	3	774	3	DLEC1	3	38103746	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	26730870	38103746	159918684	19	4735											
OR5H1	26341	broad.mit.edu	37	chr3	97851842	97851842	+	Frame_Shift_Del	DEL	T	T	-													tctctgaatgcaagatacagTttttttcgtttgcaatcagt							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:97851842delT	ENST00000354565.2	+	1	301	c.301delT	c.(301-303)tttfs	p.F102fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAAGATACAGTTTTTTTCGTT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(301-303)ttfs		olfactory receptor, family 5, subfamily H, member 1							196	190	192					3																	97851842		2202	4299	6501	SO:0001589	frameshift_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851842delT	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.301delT	3.37:g.97851842delT	ENSP00000346575:p.Phe102fs					RP11-343D2.11_ENST00000508964.1_RNA	p.F102fs	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	301	+			102						Frame_Shift_Del	DEL	ENST00000354565.2	37	c.301delT	CCDS33797.1																																																																																				0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		8	1454						8	1454	---	---	---	---	-	97851842	T	-	97851842	7	5	40	1	0	1	0	1	0	0	0	0	11201	1725	60	0	303	0	OR5H1	3	97851842	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	59748096	97851842	100170588	20	4736											
FILIP1L	11259	broad.mit.edu	37	chr3	99569205	99569205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagagagtagcattcttGtttgcttttgttgaaagcgt	10	5	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:99569205G>A	ENST00000354552.3	-	5	1785	c.1315C>T	c.(1315-1317)Caa>Taa	p.Q439*	FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.Q439*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	439						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAGCATTCTTGTTTGCTTTTG	0.358																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1315-1317)Caa>Taa		filamin A interacting protein 1-like							113	107	109					3																	99569205		1834	4073	5907	SO:0001587	stop_gained	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569205G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1315C>T	3.37:g.99569205G>A	ENSP00000346560:p.Gln439*					FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q439*|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	p.Q439*	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1785	-			439					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	ENST00000354552.3	37	c.1315C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736310	0.89482	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.55	4.66	0.58398	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-2.2035	16.0018	0.80297	0.0:0.1518:0.8482:0.0	.	.	.	.	X	439;15;199;439;199;185;199	.	ENSP00000327880:Q439X	Q	-	1	0	FILIP1L	101051895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	1.286000	0.44565	0.655000	0.94253	CAA		0.358	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		107	503	0	0	0	1	0	107	503					A	99569205	G	A	99569205	4	1	40	1	0	0	0	0	0	1	0	0	5920	1386	48	2	2121	2	FILIP1L	3	99569205	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	1717363	99569205	98453225	21	4737											
IMPG2	50939	broad.mit.edu	37	chr3	100951770	100951770	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactttgcttctccactccAggggttgaccagacactctg	9	14	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:100951770A>T	ENST00000193391.7	-	15	3275	c.3088T>A	c.(3088-3090)Tgg>Agg	p.W1030R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1030	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)	TCTCCACTCCAGGGGTTGACC	0.463																																						ENST00000193391.7																			0				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						c.(3088-3090)Tgg>Agg		interphotoreceptor matrix proteoglycan 2							100	98	99					3																	100951770		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.chr3:100951770A>T	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.3088T>A	3.37:g.100951770A>T	ENSP00000193391:p.Trp1030Arg						p.W1030R	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			15	3275	-			1030			EGF-like 1.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3088T>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993749	0.74703	.	.	ENSG00000081148	ENST00000193391	T	0.25085	1.82	5.88	4.66	0.58398	Epidermal growth factor-like, type 3 (1);	0.082660	0.53938	D	0.000052	T	0.44435	0.1293	L	0.55834	1.745	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.38436	-0.9661	10	0.72032	D	0.01	-4.5245	12.8058	0.57612	0.8637:0.1363:0.0:0.0	.	1030;1030	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	R	1030	ENSP00000193391:W1030R	ENSP00000193391:W1030R	W	-	1	0	IMPG2	102434460	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.846000	0.69444	2.257000	0.74773	0.459000	0.35465	TGG		0.463	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			65	234	0	0	0	1	0	65	234					T	100951770	A	T	100951770	3	4	40	1	0	0	0	0	1	0	0	0	7759	188	7	5	657	5	IMPG2	3	100951770	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	1382565	100951770	97070660	22	4738											
COL6A6	131873	broad.mit.edu	37	chr3	130361862	130361862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtatgtgcgagaccGcagtcgtaagtaccctgctt	10	11	1	1	rs370927133		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:130361862G>A	ENST00000358511.6	+	30	5253	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1741	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 matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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						GTGCGAGACCGCAGTCGTAAG	0.393																																						ENST00000358511.6																			0				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						c.(5221-5223)cGc>cAc		collagen, type VI, alpha 6		G	HIS/ARG	1,3761		0,1,1880	111	97	101		5222	3.3	0.5	3		101	0,8210		0,0,4105	no	missense	COL6A6	NM_001102608.1	29	0,1,5985	AA,AG,GG		0.0,0.0266,0.0084	benign	1741/2264	130361862	1,11971	1881	4105	5986	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130361862G>A	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.5222G>A	3.37:g.130361862G>A	ENSP00000351310:p.Arg1741His					COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			30	5253	+			1741			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5222G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.402	-0.122029	0.06795	2.66E-4	0.0	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88818	-2.42;-2.43	5.67	3.33	0.38152	.	.	.	.	.	T	0.61085	0.2319	N	0.00182	-1.905	0.22253	N	0.999252	B	0.02656	0.0	B	0.01281	0.0	T	0.55755	-0.8091	9	0.12430	T	0.62	.	7.9706	0.30126	0.8354:0.0:0.1646:0.0	.	1741	A6NMZ7	CO6A6_HUMAN	H	1741	ENSP00000351310:R1741H;ENSP00000399236:R1741H	ENSP00000351310:R1741H	R	+	2	0	COL6A6	131844552	1.000000	0.71417	0.542000	0.28115	0.935000	0.57460	3.430000	0.52807	0.445000	0.26639	-0.367000	0.07326	CGC		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		19	122	0	0	0	1	0	19	122					A	130361862	G	A	130361862	3	1	40	1	0	0	0	0	1	0	0	0	3712	1087	38	1	5340	1	COL6A6	3	130361862	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	29410092	130361862	67660568	23	4739											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	680						8	680	---	---	---	---	-	946207	TG	-	946206	7	5	40	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-3E-AAAZ-01A-11D-A38G-08		946206	190208070	24	4740											
BOD1L	259282	broad.mit.edu	37	chr4	13601941	13601941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgggggcgcactggGcataggcccctcaaagtcgg	15	12	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr4:13601941G>A	ENST00000040738.5	-	10	6718	c.6583C>T	c.(6583-6585)Ccc>Tcc	p.P2195S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2195						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCGCACTGGGCATAGGCCCC	0.527																																						ENST00000040738.5																			0											c.(6583-6585)Ccc>Tcc		biorientation of chromosomes in cell division 1-like 1							73	63	66					4																	13601941		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601941G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6583C>T	4.37:g.13601941G>A	ENSP00000040738:p.Pro2195Ser						p.P2195S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6718	-			2195					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6583C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304318	0.23736	.	.	ENSG00000038219	ENST00000040738	T	0.06608	3.28	5.33	4.36	0.52297	.	0.124052	0.37012	N	0.002292	T	0.03651	0.0104	N	0.17723	0.515	0.36919	D	0.891272	P	0.38473	0.633	B	0.29862	0.108	T	0.50898	-0.8773	10	0.33940	T	0.23	-3.7133	9.1929	0.37211	0.1365:0.0:0.8635:0.0	.	2195	Q8NFC6	BOD1L_HUMAN	S	2195	ENSP00000040738:P2195S	ENSP00000040738:P2195S	P	-	1	0	BOD1L	13211039	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.490000	0.45294	2.504000	0.84457	0.555000	0.69702	CCC		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	228	0	0	0	1	0	4	228					A	13601941	G	A	13601941	3	1	40	1	0	0	0	0	1	0	0	0	1485	1203	42	2	2640	2	BOD1L	4	13601941	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	12655735	13601941	177552335	25	4741											
CCDC158	339965	broad.mit.edu	37	chr4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-													catgctgtcatgttcacataTttttttgcctgaggcttctt							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(610-612)tafs		coiled-coil domain containing 158							106	97	100					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965							g.chr4:77305357delT	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs					CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	762	-			204					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.610delA	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		8	401						8	401	---	---	---	---	-	77305357	T	-	77305357	7	5	40	1	0	1	0	1	0	0	0	0	2797	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	63703416	77305357	113848919	26	4742											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			4	172	0	0	0	1	0	4	172					T	32407029	A	T	32407029	2	4	40	1	0	0	0	0	0	0	0	1	17712	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08		32407029	148508231	27	4743											
CDC20B	166979	broad.mit.edu	37	chr5	54423083	54423083	+	Splice_Site	DEL	A	A	-													tctccaacaagacgcttcttAcctgctgaggataaagtgat							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:54423083delA	ENST00000381375.2	-	8	1135		c.e8+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACGCTTCTTACCTGCTGAGG	0.383																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.e8+1		cell division cycle 20B							102	104	103					5																	54423083		2203	4300	6503	SO:0001630	splice_region_variant	166979							g.chr5:54423083delA	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.989+1T>-	5.37:g.54423083delA						CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Splice_Site|CDC20B_ENST00000381375.2_Splice_Site				Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		8	1166	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)						B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Splice_Site	DEL	ENST00000381375.2	37		CCDS54852.1																																																																																				0.383	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	Intron	141	578						141	578	---	---	---	---	-	54423083	A	-	54423083	8	5	40	1	0	1	0	1	0	0	1	0	3069	405	14	0	588	0	CDC20B	5	54423083	Splice_Site	DEL	A	TCGA-3E-AAAZ-01A-11D-A38G-08	22016054	54423083	126492177	28	4744											
PCDHA2	56146	broad.mit.edu	37	chr5	140175222	140175222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacctgagctcacgggcAccgttcaaatacttattaag	8	11	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:140175222A>G	ENST00000526136.1	+	1	673	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	225	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCACGGGCACCGTTCAAAT	0.423																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(673-675)Acc>Gcc									81	91	87					5																	140175222		2202	4300	6502	SO:0001583	missense	0							g.chr5:140175222A>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.673A>G	5.37:g.140175222A>G	ENSP00000431748:p.Thr225Ala					PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A	p.T225A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	673	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.673A>G	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.46	2.541178	0.45280	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	4.02	2.83	0.33086	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	U	0.000988	T	0.69735	0.3144	M	0.92077	3.27	0.31199	N	0.699996	P;B;P	0.40266	0.71;0.374;0.71	B;P;B	0.50378	0.362;0.639;0.362	T	0.75105	-0.3435	10	0.87932	D	0	.	9.9392	0.41570	0.8476:0.0:0.0:0.1524	.	225;225;225	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	225	ENSP00000430584:T225A;ENSP00000367372:T225A;ENSP00000431748:T225A	ENSP00000367372:T225A	T	+	1	0	PCDHA2	140155406	0.998000	0.40836	0.981000	0.43875	0.995000	0.86356	4.169000	0.58223	0.681000	0.31386	0.528000	0.53228	ACC		0.423	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		90	455	0	0	0	1	0	90	455					G	140175222	A	G	140175222	3	3	40	1	0	0	0	0	1	0	0	0	11566	159	6	4	675	4	PCDHA2	5	140175222	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	85752139	140175222	40740038	29	4745											
FAM71B	153745	broad.mit.edu	37	chr5	156590130	156590130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgctgcacacttgctGgtcgtaatactgcctgcaaa	8	12	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:156590130G>T	ENST00000302938.4	-	2	1241	c.1146C>A	c.(1144-1146)acC>acA	p.T382T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus (GO:0005634)				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)			CACACTTGCTGGTCGTAATAC	0.567																																						ENST00000302938.4																			0				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						c.(1144-1146)acC>acA		family with sequence similarity 71, member B							47	49	48					5																	156590130		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590130G>T		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.1146C>A	5.37:g.156590130G>T							p.T382T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1241	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	382					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1146C>A	CCDS4335.1																																																																																				0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		9	224	1	0	7.48243e-07	1	7.94686e-07	9	224					T	156590130	G	T	156590130	2	4	40	1	0	0	0	0	0	0	0	1	5633	1335	47	3		3	FAM71B	5	156590130	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	16414908	156590130	24325130	30	4746											
AGXT2L2	85007	broad.mit.edu	37	chr5	177642327	177642327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctgcccgaggagctgCatcaggaagctgcctacact	11	12	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:177642327C>A	ENST00000308158.5	-	9	1266	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	344						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGAGGAGCTGCATCAGGAAGC	0.617																																						ENST00000308158.5																			0											c.(1030-1032)atG>atT		5-phosphohydroxy-L-lysine phospho-lyase							48	42	44					5																	177642327		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177642327C>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1032G>T	5.37:g.177642327C>A	ENSP00000310978:p.Met344Ile					PHYKPL_ENST00000481811.1_5'UTR	p.M344I	NM_153373.2	NP_699204.1					9	1266	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.1032G>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	6.032	0.374255	0.11409	.	.	ENSG00000175309	ENST00000308158	T	0.18502	2.21	5.3	5.3	0.74995	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.182611	0.64402	D	0.000017	T	0.12008	0.0292	N	0.25286	0.73	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.004	T	0.11275	-1.0594	10	0.29301	T	0.29	-7.605	11.5406	0.50665	0.1788:0.8212:0.0:0.0	.	344;344	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	I	344	ENSP00000310978:M344I	ENSP00000310978:M344I	M	-	3	0	AGXT2L2	177574933	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.815000	0.38981	2.480000	0.83734	0.561000	0.74099	ATG		0.617	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		4	118	1	0	1	1	1	4	118					A	177642327	C	A	177642327	3	1	40	1	0	0	0	0	1	0	0	0	407	710	25	3	336	3	AGXT2L2	5	177642327	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	21052197	177642327	3272933	31	4747											
GCNT2	2651	broad.mit.edu	37	chr6	10586309	10586309	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtagccaattgagcccGccaaaaagttatgagaagct	9	9	0	2	rs201305914		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					ENST00000265012.4																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138	133	135					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35275G>A	6.37:g.10586309G>A						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron	p.P29P	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		10	706	0	0	0	1	0	10	706					A	10586309	G	A	10586309	1	1	40	0	1	0	0	0	0	0	0	0	6329	1074	38	1		1	GCNT2	6	10586309	Intron	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		10586309	160528758	32	4748											
XPO5	57510	broad.mit.edu	37	chr6	43491668	43491668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctccgtctccagcaTtggctttgtttttttgaaaa	7	11	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:43491668T>C	ENST00000265351.7	-	32	3763	c.3553A>G	c.(3553-3555)Atg>Gtg	p.M1185V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1185					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTCTCCAGCATTGGCTTTGTT	0.463																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(3553-3555)Atg>Gtg		exportin 5							94	94	94					6																	43491668		1896	4111	6007	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43491668T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3553A>G	6.37:g.43491668T>C	ENSP00000265351:p.Met1185Val					POLR1C_ENST00000304004.3_Intron	p.M1185V	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		32	3763	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		1185					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.3553A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	2.456	-0.325143	0.05350	.	.	ENSG00000124571	ENST00000265351;ENST00000439465	T	0.27256	1.68	6.05	-7.28	0.01456	.	0.722313	0.14370	N	0.323863	T	0.02156	0.0067	N	0.04203	-0.255	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.25106	T	0.35	-0.074	5.3159	0.15854	0.1366:0.4805:0.0853:0.2977	.	1185	Q9HAV4	XPO5_HUMAN	V	1185;813	ENSP00000265351:M1185V	ENSP00000265351:M1185V	M	-	1	0	XPO5	43599646	0.347000	0.24853	0.870000	0.34147	0.979000	0.70002	-0.064000	0.11636	-0.740000	0.04803	-0.280000	0.10049	ATG		0.463	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		4	263	0	0	0	1	0	4	263					C	43491668	T	C	43491668	3	2	40	1	0	0	0	0	1	0	0	0	17501	1493	52	4	65	4	XPO5	6	43491668	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	32905359	43491668	127623399	33	4749											
GPRC6A	222545	broad.mit.edu	37	chr6	117113727	117113727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagtaaatgagcatgcCaaatgtaatgaatttggctt	9	4	0	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:117113727C>T	ENST00000310357.3	-	6	2380	c.2359G>A	c.(2359-2361)Ggc>Agc	p.G787S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	787					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAGCATGCCAAATGTAATG	0.378																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(2359-2361)Ggc>Agc		G protein-coupled receptor, family C, group 6, member A							74	79	77					6																	117113727		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113727C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2359G>A	6.37:g.117113727C>T	ENSP00000309493:p.Gly787Ser					GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S	p.G787S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2380	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	787					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2359G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880765	0.17467	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85411	-1.98;-1.98;-1.98	4.26	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000041	T	0.62146	0.2404	N	0.04669	-0.19	0.49130	D	0.999757	P;P;P	0.39903	0.65;0.504;0.694	P;B;B	0.47603	0.551;0.292;0.418	T	0.70171	-0.4945	10	0.02654	T	1	.	16.8566	0.86007	0.0:1.0:0.0:0.0	.	716;612;787	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	787;716;612	ENSP00000309493:G787S;ENSP00000357537:G716S;ENSP00000433465:G612S	ENSP00000309493:G787S	G	-	1	0	GPRC6A	117220420	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.930000	0.48924	2.210000	0.71456	0.591000	0.81541	GGC		0.378	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			38	176	0	0	0	1	0	38	176					T	117113727	C	T	117113727	3	4	40	1	0	0	0	0	1	0	0	0	6758	594	21	2	425	2	GPRC6A	6	117113727	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	73622059	117113727	54001340	34	4750											
TULP4	56995	broad.mit.edu	37	chr6	158922970	158922970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggacaggtgattttcGgaagcgtggaaatgggccgc	15	8	0	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:158922970G>A	ENST00000367097.3	+	13	3632	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	759					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATTTTCGGAAGCGTGGA	0.612																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2275-2277)Gga>Aga		tubby like protein 4							196	188	191					6																	158922970		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158922970G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2275G>A	6.37:g.158922970G>A	ENSP00000356064:p.Gly759Arg					TULP4_ENST00000367094.2_Intron	p.G759R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3632	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	759					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2275G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270972	0.80469	.	.	ENSG00000130338	ENST00000367097	T	0.61980	0.06	5.64	5.64	0.86602	.	0.395439	0.28327	N	0.015758	T	0.44932	0.1317	L	0.56769	1.78	0.80722	D	1	P	0.45011	0.848	B	0.34722	0.188	T	0.56565	-0.7958	10	0.54805	T	0.06	-15.9636	14.9195	0.70826	0.0707:0.0:0.9293:0.0	.	759	Q9NRJ4	TULP4_HUMAN	R	759	ENSP00000356064:G759R	ENSP00000356064:G759R	G	+	1	0	TULP4	158842958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.865000	0.69583	2.659000	0.90383	0.650000	0.86243	GGA		0.612	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		41	686	0	0	0	1	0	41	686					A	158922970	G	A	158922970	3	1	40	1	0	0	0	0	1	0	0	0	16830	1117	39	1	2325	1	TULP4	6	158922970	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	41809243	158922970	12192097	35	4751											
TBP	6908	broad.mit.edu	37	chr6	170871085	170871085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	13	14	0	0	rs566225355	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:170871085G>A	ENST00000392092.2	+	3	540	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TBP_ENST00000230354.6_Silent_p.Q87Q|TBP_ENST00000540980.1_Silent_p.Q67Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	87	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617													G|||	12	0.00239617	0.0015	0.0029	5008	,	,		13588	0.005		0.002	False		,,,				2504	0.001					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(259-261)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871085G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.261G>A	6.37:g.170871085G>A						TBP_ENST00000230354.6_Silent_p.Q87Q|TBP_ENST00000540980.1_Silent_p.Q67Q	p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	540	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	87			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.261G>A	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	101	0	0	0	1	0	4	101					A	170871085	G	A	170871085	2	1	40	1	0	0	0	0	0	0	0	1	15696	962	34	2		2	TBP	6	170871085	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	11948115	170871085	243982	36	4752											
CPVL	54504	broad.mit.edu	37	chr7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T													gatttaaagatcttccaaacINSttttttttctgccttcttgt							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aaagttfs	p.V418fs	CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	418						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51																																						ENST00000409850.1																			1	Deletion - Frameshift(1)	p.V418fs*24(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1249-1254)aatttgfs		carboxypeptidase, vitellogenic-like																																				SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070261_29070262insT	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1252dupA	7.37:g.29070269_29070269dupT	ENSP00000387164:p.Val418fs					CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs	p.NL417fs			Q9H3G5	CPVL_HUMAN			16	1897_1898	-			417					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Ins	INS	ENST00000409850.1	37	c.1251_1252insA	CCDS5419.1																																																																																				0.51	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		7	1097						7	1097	---	---	---	---	T	29070262	-	T	29070261	7	5	40	1	0	1	1	0	0	0	0	0	3844	565	20	0	186	0	CPVL	7	29070261	Frame_Shift_Ins	INS	-	TCGA-3E-AAAZ-01A-11D-A38G-08		29070261	130068402	37	4753											
PTPN12	5782	broad.mit.edu	37	chr7	77230064	77230064	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgattctattctggacatGataagcttaatgaggaaata	8	4	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:77230064G>A	ENST00000248594.6	+	8	908	c.636G>A	c.(634-636)atG>atA	p.M212I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	212	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCTGGACATGATAAGCTTAA	0.328																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(634-636)atG>atA		protein tyrosine phosphatase, non-receptor type 12							105	91	96					7																	77230064		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77230064G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.636G>A	7.37:g.77230064G>A	ENSP00000248594:p.Met212Ile					PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I|PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I	p.M212I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			8	908	+			212			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.636G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202288	0.94997	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.82893	2.85;-1.66;-1.66	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.41573	1.285	0.80722	D	1	D	0.58620	0.983	D	0.63033	0.91	D	0.88185	0.2873	10	0.66056	D	0.02	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	212	Q05209	PTN12_HUMAN	I	212;93;93;82	ENSP00000248594:M212I;ENSP00000392429:M93I;ENSP00000397991:M82I	ENSP00000248594:M212I	M	+	3	0	PTPN12	77068000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.824000	0.86668	2.585000	0.87301	0.557000	0.71058	ATG		0.328	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			100	351	0	0	0	1	0	100	351					A	77230064	G	A	77230064	3	1	40	1	0	0	0	0	1	0	0	0	12829	1290	45	2	666	2	PTPN12	7	77230064	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	48159803	77230064	81908599	38	4754											
GRM8	2918	broad.mit.edu	37	chr7	126173814	126173814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctggtagttgtaaccttcaCagcgttcacagtgccagcag	10	12	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:126173814C>G	ENST00000339582.2	-	9	2430	c.1622G>C	c.(1621-1623)tGt>tCt	p.C541S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	541					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTAACCTTCACAGCGTTCACA	0.562										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1621-1623)tGt>tCt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						127	118	121					7																	126173814		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173814C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1622G>C	7.37:g.126173814C>G	ENSP00000344173:p.Cys541Ser	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S	p.C541S			O00222	GRM8_HUMAN			9	2430	-		Prostate(267;0.186)	541					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1622G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281561	0.80692	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.99494	-6.01;-6.01;-6.01	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.98682	4.3	0.80722	D	1	P;D	0.89917	0.867;1.0	B;D	0.87578	0.359;0.998	D	0.97086	0.9787	10	0.87932	D	0	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	541;541	O00222-2;O00222	.;GRM8_HUMAN	S	541	ENSP00000344173:C541S;ENSP00000409790:C541S;ENSP00000351142:C541S	ENSP00000344173:C541S	C	-	2	0	GRM8	125961050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.758000	0.94735	0.643000	0.83706	TGT		0.562	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			74	324	0	0	0	1	0	74	324					G	126173814	C	G	126173814	3	3	40	1	0	0	0	0	1	0	0	0	6833	478	17	5	1166	5	GRM8	7	126173814	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	48943750	126173814	32964849	39	4755											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	571						7	571	---	---	---	---	-	142562309	G	-	142562309	7	5	40	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-3E-AAAZ-01A-11D-A38G-08	16388495	142562309	16576354	40	4756											
RP1L1	94137	broad.mit.edu	37	chr8	10480104	10480104	+	Splice_Site	DEL	T	T	-													tcagaccccaacagcctaccTttttcccgctggtcgtgtac							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:10480104delT	ENST00000382483.3	-	2	831	c.608delA	c.(607-609)aag>ag	p.K203fs	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				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						c.e2+1		retinitis pigmentosa 1-like 1							153	142	145					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104delT	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.609+1A>-	8.37:g.10480104delT						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	DEL	ENST00000382483.3	37	c.609_splice	CCDS43708.1																																																																																				0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Frame_Shift_Del	7	1179						7	1179	---	---	---	---	-	10480104	T	-	10480104	8	5	40	1	0	1	0	1	0	0	1	0	13583	1623	56	0	6606	0	RP1L1	8	10480104	Splice_Site	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08		10480104	135883918	41	4757											
DEFB135	613209	broad.mit.edu	37	chr8	11841997	11841997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgactgcaaggtacttgCcggccaaaatgtctaaaaaa	10	9	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373																																						ENST00000382208.2																			0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(130-132)tgC>tgT		defensin, beta 135							101	99	99					8																	11841997		1879	4107	5986	SO:0001819	synonymous_variant	613209				defense response to bacterium	extracellular region		g.chr8:11841997C>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T							p.C44C	NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN			2	132	+			44					Q4QY37	Silent	SNP	ENST00000382208.2	37	c.132C>T	CCDS43710.1																																																																																				0.373	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		5	321	0	0	0	1	0	5	321					T	11841997	C	T	11841997	2	4	40	1	0	0	0	0	0	0	0	1	4435	747	26	2		2	DEFB135	8	11841997	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1361893	11841997	134522025	42	4758											
BAALC	79870	broad.mit.edu	37	chr8	104225200	104225200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgatctacagccccaGgtggaatacccaacccagag	9	16	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:104225200G>A	ENST00000297574.6	+	3	458	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000309982.5_Missense_Mutation_p.G72S|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	107						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TACAGCCCCAGGTGGAATACC	0.577																																						ENST00000309982.5																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(214-216)Ggt>Agt		brain and acute leukemia, cytoplasmic							138	122	127					8																	104225200		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104225200G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.319G>A	8.37:g.104225200G>A	ENSP00000297574:p.Gly107Ser					BAALC_ENST00000297574.6_Missense_Mutation_p.G107S|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron	p.G72S	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	402	+			107					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.214G>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.927804	0.34002	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.53206	1.02;0.63	5.47	1.85	0.25348	.	0.578794	0.17232	N	0.181915	T	0.30070	0.0753	.	.	.	0.80722	D	1	B;B	0.18741	0.03;0.005	B;B	0.17722	0.014;0.019	T	0.05971	-1.0853	9	0.26408	T	0.33	-6.8436	5.7463	0.18122	0.4639:0.0:0.5361:0.0	.	107;72	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	S	72;107	ENSP00000312457:G72S;ENSP00000297574:G107S	ENSP00000297574:G107S	G	+	1	0	BAALC	104294376	0.137000	0.22531	0.196000	0.23383	0.544000	0.35116	0.274000	0.18680	0.631000	0.30412	0.650000	0.86243	GGT		0.577	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			86	378	0	0	0	1	0	86	378					A	104225200	G	A	104225200	3	1	40	1	0	0	0	0	1	0	0	0	1280	1000	35	2	220	2	BAALC	8	104225200	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	92383203	104225200	42138822	43	4759											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	11	14	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	362	0	0	0	1	0	6	362					A	20414313	G	A	20414313	2	1	40	1	0	0	0	0	0	0	0	1	9669	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		20414313	120799118	44	4760											
C9orf3	84909	broad.mit.edu	37	chr9	97843044	97843044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctacaaaagtgtggagagGttccttcaggaggatcaggt	14	7	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:97843044G>T	ENST00000375315.2	+	14	2301	c.2301G>T	c.(2299-2301)agG>agT	p.R767S	C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S|C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	767					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTGTGGAGAGGTTCCTTCAGG	0.502																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2299-2301)agG>agT		chromosome 9 open reading frame 3							158	138	145					9																	97843044		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843044G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2301G>T	9.37:g.97843044G>T	ENSP00000364464:p.Arg767Ser					C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S|C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S	p.R767S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2301	+			767					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2301G>T	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.063994|2.063994	0.36373|0.36373	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	5.57|5.57	-11.1|-11.1	0.00147|0.00147	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.730929|.	0.12958|.	N|.	0.425271|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.57536|0.57536	1.79|1.79	0.22156|0.22156	N|N	0.999328|0.999328	P;P;B;B;B|.	0.48834|.	0.845;0.916;0.095;0.418;0.306|.	P;P;B;B;B|.	0.51657|.	0.676;0.515;0.053;0.085;0.169|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.11485|.	T|.	0.65|.	0.0602|0.0602	6.0437|6.0437	0.19748|0.19748	0.1409:0.4072:0.3673:0.0845|0.1409:0.4072:0.3673:0.0845	.|.	108;129;767;668;668|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	S|F	668;767;491;549;129;108;131|132	ENSP00000297979:R668S;ENSP00000364464:R767S;ENSP00000402171:R491S;ENSP00000401854:R549S;ENSP00000411815:R129S;ENSP00000399365:R108S|.	ENSP00000297979:R668S|.	R|V	+|+	3|1	2|0	C9orf3|C9orf3	96882865|96882865	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.090000|0.090000	0.18270|0.18270	-1.167000|-1.167000	0.03126|0.03126	-1.392000|-1.392000	0.02082|0.02082	-0.378000|-0.378000	0.06908|0.06908	AGG|GTT		0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		42	243	1	0	2.47872e-24	1	2.70726e-24	42	243					T	97843044	G	T	97843044	3	4	40	1	0	0	0	0	1	0	0	0	2484	1252	44	3	2050	3	C9orf3	9	97843044	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	77428731	97843044	43370387	45	4761											
OR1N2	138882	broad.mit.edu	37	chr9	125315452	125315452	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaataaatactgacacatgGaaggtttttatctgcgcaga	8	6	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:125315452G>T	ENST00000373688.2	+	1	62	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACACATGGAAGGTTTTTA	0.408																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(4-6)Gaa>Taa		olfactory receptor, family 1, subfamily N, member 2							80	83	82					9																	125315452		2203	4300	6503	SO:0001587	stop_gained	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315452G>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.4G>T	9.37:g.125315452G>T	ENSP00000362792:p.Glu2*						p.E2*	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	62	+			2					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Nonsense_Mutation	SNP	ENST00000373688.2	37	c.4G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426314	0.62733	.	.	ENSG00000171501	ENST00000373688	.	.	.	3.55	0.384	0.16244	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.7679	0.01018	0.2222:0.1643:0.399:0.2145	.	.	.	.	X	2	.	ENSP00000362792:E2X	E	+	1	0	OR1N2	124355273	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.184000	0.09698	-0.024000	0.13941	0.638000	0.83543	GAA		0.408	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			80	325	1	0	7.539e-32	1	8.35256e-32	80	325					T	125315452	G	T	125315452	4	4	40	1	0	0	0	0	0	1	0	0	11012	1175	41	3	6	3	OR1N2	9	125315452	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	27472408	125315452	15897979	46	4762											
CACNA1B	774	broad.mit.edu	37	chr9	141014657	141014657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagcgctccatctccaCgctggcccagcggccccgtg	11	18	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:141014657C>T	ENST00000371372.1	+	45	6216	c.6071C>T	c.(6070-6072)aCg>aTg	p.T2024M	CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T1218M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2024					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATCTCCACGCTGGCCCAG	0.687																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3652-3654)aCg>aTg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						38	61	53					9																	141014657		2170	4264	6434	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014657C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6071C>T	9.37:g.141014657C>T	ENSP00000360423:p.Thr2024Met					CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T2024M	p.T1218M			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6222	+	all_cancers(76;0.166)		2024					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3653C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339170	0.81911	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.78	4.78	0.61160	.	0.330500	0.29767	N	0.011255	T	0.73961	0.3654	L	0.49126	1.545	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.45276	0.475;0.475	T	0.77411	-0.2598	10	0.52906	T	0.07	.	17.8144	0.88627	0.0:1.0:0.0:0.0	.	2023;2022	B1AQK7;B1AQK6	.;.	M	2024;2024;1218;2022;2023;2025	ENSP00000360423:T2024M;ENSP00000277551:T2024M;ENSP00000277549:T1218M;ENSP00000360414:T2022M;ENSP00000360408:T2023M;ENSP00000360406:T2025M	ENSP00000277549:T1218M	T	+	2	0	CACNA1B	140134478	0.997000	0.39634	0.976000	0.42696	0.747000	0.42532	3.527000	0.53517	2.210000	0.71456	0.491000	0.48974	ACG		0.687	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		24	48	0	0	0	1	0	24	48					T	141014657	C	T	141014657	3	4	40	1	0	0	0	0	1	0	0	0	2546	536	19	1	6245	1	CACNA1B	9	141014657	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	15699205	141014657	198774	47	4763											
FRMD4A	55691	broad.mit.edu	37	chr10	13696478	13696478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctccaatttcacttgaCggtgtcgagcttctctggct	11	11	2	1	rs377693430		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:13696478C>T	ENST00000357447.2	-	23	3356	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	FRMD4A_ENST00000358621.4_Silent_p.P981P|FRMD4A_ENST00000378503.1_Silent_p.P996P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	996	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTTCACTTGACGGTGTCGAGC	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.0					ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2986-2988)ccG>ccA		FERM domain containing 4A		C		1,4405	2.1+/-5.4	0,1,2202	90	86	87		2988	-8.3	0.1	10		87	0,8600		0,0,4300	no	coding-synonymous	FRMD4A	NM_018027.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		996/1040	13696478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696478C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2988G>A	10.37:g.13696478C>T						FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P	p.P996P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			23	3356	-			996			Ser-rich.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.2988G>A	CCDS7101.1																																																																																				0.547	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		7	224	0	0	0	1	0	7	224					T	13696478	C	T	13696478	2	4	40	1	0	0	0	0	0	0	0	1	6078	523	19	1		1	FRMD4A	10	13696478	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		13696478	121838269	48	4764											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	279						9	279	---	---	---	---	-	46969403	CAG	-	46969401	7	5	40	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-3E-AAAZ-01A-11D-A38G-08	33272923	46969401	88565346	49	4765											
C10orf125	282969	broad.mit.edu	37	chr10	135170216	135170216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggcccctctccttgtcGctgggcaccagctccatgac	10	17	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:135170216G>A	ENST00000368552.3	-	4	269	c.252C>T	c.(250-252)agC>agT	p.S84S	FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000368551.1_Silent_p.S39S|FUOM_ENST00000278025.4_Silent_p.S84S|FUOM_ENST00000447176.1_Silent_p.S40S	NM_001098483.1	NP_001091953.1	A2VDF0	FUCM_HUMAN	fucose mutarotase	84					female mating behavior (GO:0060180)|fucose metabolic process (GO:0006004)|fucosylation (GO:0036065)|negative regulation of neuron differentiation (GO:0045665)		fucose binding (GO:0042806)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)										TCTCCTTGTCGCTGGGCACCA	0.657																																						ENST00000278025.4																			0											c.(250-252)agC>agT		fucose mutarotase							41	33	36					10																	135170216		2194	4293	6487	SO:0001819	synonymous_variant	282969							g.chr10:135170216G>A	AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	5.1.3.n2		24733	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 125"	C10orf125		17602138	Standard	NM_001098483		Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368552.3:c.252C>T	10.37:g.135170216G>A						FUOM_ENST00000368551.1_Silent_p.S39S|FUOM_ENST00000368552.3_Silent_p.S84S|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000447176.1_Silent_p.S40S	p.S84S	NM_198472.2	NP_940874.2					4	269	-								A1L300|Q5VWY2|Q5VWY3|Q6ZPD2	Silent	SNP	ENST00000368552.3	37	c.252C>T	CCDS44499.1																																																																																				0.657	FUOM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198472		15	28	0	0	0	1	0	15	28					A	135170216	G	A	135170216	2	1	40	1	0	0	0	0	0	0	0	1	1596	1078	38	1		1	C10orf125	10	135170216	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	88200815	135170216	364531	50	4766											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	639						7	639	---	---	---	---	-	6891255	TTC	-	6891253	7	5	40	1	0	1	0	1	0	0	0	0	10932	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-3E-AAAZ-01A-11D-A38G-08		6891253	128115263	51	4767											
IGSF22	283284	broad.mit.edu	37	chr11	18738405	18738405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggacaccgtgatttcataCttgtcatccctcttcagctc	6	14	4	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:18738405C>A	ENST00000513874.1	-	10	1255	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	372										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATTTCATACTTGTCATCCC	0.527																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1114-1116)aaG>aaT		immunoglobulin superfamily, member 22							255	252	253					11																	18738405		2078	4192	6270	SO:0001583	missense	283284							g.chr11:18738405C>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1116G>T	11.37:g.18738405C>A	ENSP00000421191:p.Lys372Asn					RP11-1081L13.4_ENST00000527285.1_RNA	p.K372N	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			10	1255	-			372					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1116G>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783844	0.70222	.	.	ENSG00000179057	ENST00000513874	T	0.44083	0.93	4.94	-0.225	0.13111	.	0.000000	0.37857	U	0.001902	T	0.39091	0.1065	M	0.73319	2.225	0.27060	N	0.96358	P	0.40578	0.722	B	0.39738	0.308	T	0.34650	-0.9820	10	0.45353	T	0.12	.	9.8716	0.41177	0.0:0.6398:0.0:0.3602	.	372	D6RGV7	.	N	372	ENSP00000421191:K372N	ENSP00000322422:K372N	K	-	3	2	IGSF22	18694981	0.334000	0.24739	0.728000	0.30774	0.997000	0.91878	-0.495000	0.06443	0.050000	0.15949	0.655000	0.94253	AAG		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		147	576	1	0	2.14601e-56	1	2.39482e-56	147	576					A	18738405	C	A	18738405	3	1	40	1	0	0	0	0	1	0	0	0	7630	564	20	3	2920	3	IGSF22	11	18738405	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	11847152	18738405	116268111	52	4768											
OR5M3	219482	broad.mit.edu	37	chr11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagccgtaagtccataatgTtgctgccagactcgtcagaa	9	11	1	2	rs148100298	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428																																						ENST00000312240.2																			2	Substitution - Missense(2)	p.T158A(1)|p.T158P(1)	ovary(1)|lung(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(472-474)Aca>Gca		olfactory receptor, family 5, subfamily M, member 3							122	112	115					11																	56237502		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237502T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.472A>G	11.37:g.56237502T>C	ENSP00000312208:p.Thr158Ala						p.T158A	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	512	-	Esophageal squamous(21;0.00448)		158					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.472A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870782	0.33069	.	.	ENSG00000174937	ENST00000312240	T	0.00256	8.42	5.22	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00412	0.0013	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51411	-0.8709	10	0.48119	T	0.1	-6.2895	10.3656	0.44021	0.1471:0.0:0.0:0.8529	.	158	Q8NGP4	OR5M3_HUMAN	A	158	ENSP00000312208:T158A	ENSP00000312208:T158A	T	-	1	0	OR5M3	55994078	0.000000	0.05858	0.015000	0.15790	0.560000	0.35617	0.095000	0.15127	0.796000	0.33947	0.448000	0.29417	ACA		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		133	534	0	0	0	1	0	133	534					C	56237502	T	C	56237502	3	2	40	1	0	0	0	0	1	0	0	0	11217	1725	60	4	453	4	OR5M3	11	56237502	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	37499097	56237502	78769014	53	4769											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076529	57076529	+	Frame_Shift_Del	DEL	C	C	-													ccttctccccaactccgattCcccccggctcttcagaccct							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:57076529delC	ENST00000532437.1	-	5	3967	c.3656delG	c.(3655-3657)ggafs	p.G1219fs	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1219	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G1219E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AACTCCGATTCCCCCCGGCTC	0.582																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.G1219E(1)	central_nervous_system(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3655-3657)gafs		tankyrase 1 binding protein 1, 182kDa							137	152	147					11																	57076529		2201	4296	6497	SO:0001589	frameshift_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076529delC	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3656delG	11.37:g.57076529delC	ENSP00000437271:p.Gly1219fs					TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs	p.G1219fs			Q9C0C2	TB182_HUMAN			5	3967	-		all_epithelial(135;0.21)	1219			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	c.3656delG	CCDS7951.1																																																																																				0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		7	1080						7	1080	---	---	---	---	-	57076529	C	-	57076529	7	5	40	1	0	1	0	1	0	0	0	0	16372	855	30	0	1557	0	TNKS1BP1	11	57076529	Frame_Shift_Del	DEL	C	TCGA-3E-AAAZ-01A-11D-A38G-08	839027	57076529	77929987	54	4770											
MUS81	80198	broad.mit.edu	37	chr11	65632538	65632539	+	Frame_Shift_Del	DEL	AG	AG	-													acccctgggaaccctgaatcAggggccatgacctctccaaa							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:65632538_65632539delAG	ENST00000308110.4	+	13	1672_1673	c.1323_1324delAG	c.(1321-1326)tcagggfs	p.G442fs	MUS81_ENST00000533035.1_Frame_Shift_Del_p.G367fs|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	442					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACCCTGAATCAGGGGCCATGAC	0.589								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1321-1326)tcggfs	Homologous recombination	MUS81 structure-specific endonuclease subunit																																				SO:0001589	frameshift_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632538_65632539delAG		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1323_1324delAG	11.37:g.65632538_65632539delAG	ENSP00000307853:p.Gly442fs					MUS81_ENST00000533035.1_Frame_Shift_Del_p.SG366fs	p.SG441fs	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	13	1672_1673	+			441					Q9H7D9	Frame_Shift_Del	DEL	ENST00000308110.4	37	c.1323_1324delAG	CCDS8115.1																																																																																				0.589	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		10	982						10	982	---	---	---	---	-	65632539	AG	-	65632538	7	5	40	1	0	1	0	1	0	0	0	0	10029	175	7	0	1373	0	MUS81	11	65632538	Frame_Shift_Del	DEL	AG	TCGA-3E-AAAZ-01A-11D-A38G-08	8556009	65632538	69373978	55	4771											
PRKRIR	5612	broad.mit.edu	37	chr11	76063580	76063580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttatccgacactccAgcagtgcctgaaagttatct	7	11	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:76063580A>G	ENST00000260045.3	-	5	719	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	205					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCGACACTCCAGCAGTGCCTG	0.438																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(613-615)cTg>cCg		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							40	39	39					11																	76063580		2199	4287	6486	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063580A>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.614T>C	11.37:g.76063580A>G	ENSP00000260045:p.Leu205Pro						p.L205P	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	719	-			205					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.614T>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615922	0.66672	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	4.75	0.60458	.	0.061993	0.64402	D	0.000003	T	0.77452	0.4132	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80759	-0.1239	9	0.87932	D	0	.	14.5953	0.68400	1.0:0.0:0.0:0.0	.	205	O43422	P52K_HUMAN	P	30;205	.	ENSP00000260045:L205P	L	-	2	0	PRKRIR	75741228	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	8.562000	0.90719	1.925000	0.55765	0.397000	0.26171	CTG		0.438	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		68	261	0	0	0	1	0	68	261					G	76063580	A	G	76063580	3	3	40	1	0	0	0	0	1	0	0	0	12573	188	7	4	1675	4	PRKRIR	11	76063580	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	10431042	76063580	58942936	56	4772											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	8	6	3	1	rs138398778		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		6	Substitution - Missense(5)|Deletion - In frame(1)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1009-1011)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		C	CYS/ARG	0,4402		0,0,2201	60	61	61		1009	5.7	1	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117798C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R337C	p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	8	1394	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1009C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		58	278	0	0	0	1	0	58	278					T	108117798	C	T	108117798	3	4	40	1	0	0	0	0	1	0	0	0	1110	884	31	1	1035	1	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	32054218	108117798	26888718	57	4773											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264020.2_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		8	661						8	661	---	---	---	---	-	118427685	ATC	-	118427683	7	5	40	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-3E-AAAZ-01A-11D-A38G-08	10309885	118427683	16578833	58	4774											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		51	305	1	0	7.41606e-26	1	8.15766e-26	51	305					A	25398284	C	A	25398284	3	1	40	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		25398284	108453611	59	4775											
AVPR1A	552	broad.mit.edu	37	chr12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcacccttgctctggcGcgacgccgtcttcccgcgga	11	18	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.R254C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617																																						ENST00000299178.2																			1	Substitution - Missense(1)	p.R254C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(760-762)Cgc>Tgc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96	96	96					12																	63543857		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543857G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.760C>T	12.37:g.63543857G>A	ENSP00000299178:p.Arg254Cys						p.R254C	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	865	-			254						Missense_Mutation	SNP	ENST00000299178.2	37	c.760C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			140	555	0	0	0	1	0	140	555					A	63543857	G	A	63543857	3	1	40	1	0	0	0	0	1	0	0	0	1232	1087	38	1	504	1	AVPR1A	12	63543857	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	38145573	63543857	70308038	60	4776											
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	10	8	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(622-624)gCa>gTa		Mdm1 nuclear protein homolog (mouse)							121	133	129					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val					MDM1_ENST00000411698.2_Intron|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR	p.A208V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	709	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		9	1197	0	0	0	1	0	9	1197					A	68719231	G	A	68719231	3	1	40	1	0	0	0	0	1	0	0	0	9453	1319	46	2	1565	2	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	5175374	68719231	65132664	61	4777											
ANAPC7	51434	broad.mit.edu	37	chr12	110815272	110815272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctttatctaataatgttTtggctttctcctgtgtcact	8	8	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:110815272T>C	ENST00000455511.3	-	9	1385	c.1385A>G	c.(1384-1386)aAa>aGa	p.K462R	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TAATAATGTTTTGGCTTTCTC	0.423																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1384-1386)aAa>aGa		anaphase promoting complex subunit 7							251	213	226					12																	110815272		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110815272T>C	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1385A>G	12.37:g.110815272T>C	ENSP00000394394:p.Lys462Arg					ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R	p.K462R	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			9	1385	-			462					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.1385A>G	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634913	0.87760	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78126	-1.15;0.67	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	L	0.37800	1.135	0.58432	D	0.999998	D;P	0.56035	0.974;0.671	D;B	0.70487	0.969;0.202	T	0.75121	-0.3429	10	0.07482	T	0.82	-10.9948	16.1303	0.81428	0.0:0.0:0.0:1.0	.	462;462	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	R	462;36;60;462;155	ENSP00000394394:K462R;ENSP00000402314:K462R	ENSP00000402314:K462R	K	-	2	0	ANAPC7	109299655	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.698000	0.84413	2.218000	0.71995	0.533000	0.62120	AAA		0.423	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		156	572	0	0	0	1	0	156	572					C	110815272	T	C	110815272	3	2	40	1	0	0	0	0	1	0	0	0	606	1841	64	4	430	4	ANAPC7	12	110815272	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	42096041	110815272	23036623	62	4778											
LHX5	64211	broad.mit.edu	37	chr12	113906184	113906184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctggaggtccggggaCaaactgcggtccgtacagga	16	11	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:113906184C>G	ENST00000261731.3	-	3	996	c.423G>C	c.(421-423)ttG>ttC	p.L141F		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	141					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GGTCCGGGGACAAACTGCGGT	0.642																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(421-423)ttG>ttC		LIM homeobox 5							85	68	74					12																	113906184		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906184C>G	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.423G>C	12.37:g.113906184C>G	ENSP00000261731:p.Leu141Phe						p.L141F	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			3	996	-			141					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.423G>C	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838936	0.51057	.	.	ENSG00000089116	ENST00000261731	D	0.91945	-2.94	4.85	2.98	0.34508	.	0.000000	0.43747	D	0.000537	D	0.89451	0.6719	L	0.59436	1.845	0.51767	D	0.999931	P	0.40332	0.713	B	0.44044	0.439	D	0.85201	0.1015	10	0.16896	T	0.51	.	9.9534	0.41653	0.0:0.7986:0.0:0.2014	.	141	Q9H2C1	LHX5_HUMAN	F	141	ENSP00000261731:L141F	ENSP00000261731:L141F	L	-	3	2	LHX5	112390567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.206000	0.32321	2.213000	0.71641	0.491000	0.48974	TTG		0.642	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		22	78	0	0	0	1	0	22	78					G	113906184	C	G	113906184	3	3	40	1	0	0	0	0	1	0	0	0	8806	477	17	5	797	5	LHX5	12	113906184	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3090912	113906184	19945711	63	4779											
MLEC	9761	broad.mit.edu	37	chr12	121134267	121134267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaacccctatgcctcGgacaacagcagcctcatgtt	6	17	1	0	rs144716658		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:121134267G>A	ENST00000228506.3	+	5	1226	c.798G>A	c.(796-798)tcG>tcA	p.S266S	MLEC_ENST00000535413.1_3'UTR|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.R188Q|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	266					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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CCTATGCCTCGGACAACAGCA	0.502																																						ENST00000412616.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(562-564)cGg>cAg		malectin		G		1,4405	2.1+/-5.4	0,1,2202	183	171	175		798	-2.4	1	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	MLEC	NM_014730.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		266/293	121134267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134267G>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.798G>A	12.37:g.121134267G>A						MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000228506.3_Silent_p.S266S	p.R188Q			Q14165	MLEC_HUMAN			3	615	+			266						Missense_Mutation	SNP	ENST00000228506.3	37	c.563G>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572146	0.28092	2.27E-4	0.0	ENSG00000110917	ENST00000412616	.	.	.	5.43	-2.37	0.06643	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.22156	N	0.999323	.	.	.	.	.	.	T	0.31668	-0.9935	5	0.45353	T	0.12	.	1.5104	0.02494	0.3009:0.0872:0.3554:0.2565	.	.	.	.	Q	188	.	ENSP00000440746:R188Q	R	+	2	0	MLEC	119618650	0.974000	0.33945	0.996000	0.52242	0.982000	0.71751	0.103000	0.15292	-0.107000	0.12088	-1.008000	0.02478	CGG		0.502	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		10	763	0	0	0	1	0	10	763					A	121134267	G	A	121134267	2	1	40	1	0	0	0	0	0	0	0	1	9654	1103	39	1		1	MLEC	12	121134267	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	7228083	121134267	12717628	64	4780											
DNAH10	196385	broad.mit.edu	37	chr12	124326011	124326011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtggaggactggatgaCggcagttttgaatgagatga	17	5	0	4	rs373004317		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:124326011C>T	ENST00000409039.3	+	29	4950	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1642	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTGGATGACGGCAGTTTTG	0.463																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4924-4926)aCg>aTg		dynein, axonemal, heavy chain 10		C	MET/THR	0,3956		0,0,1978	141	145	144		4925	5.2	0.9	12		144	3,8305		0,3,4151	no	missense	DNAH10	NM_207437.3	81	0,3,6129	TT,TC,CC		0.0361,0.0,0.0245	probably-damaging	1642/4472	124326011	3,12261	1978	4154	6132	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326011C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4925C>T	12.37:g.124326011C>T	ENSP00000386770:p.Thr1642Met						p.T1642M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4950	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1642			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4925C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671082	0.47781	0.0	3.61E-4	ENSG00000197653	ENST00000409039	T	0.61510	0.1	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.77644	0.4161	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.75484	0.986	T	0.77550	-0.2546	10	0.39692	T	0.17	.	18.7853	0.91952	0.0:1.0:0.0:0.0	.	1642	Q8IVF4	DYH10_HUMAN	M	1642	ENSP00000386770:T1642M	ENSP00000386770:T1642M	T	+	2	0	DNAH10	122891964	1.000000	0.71417	0.945000	0.38365	0.206000	0.24218	4.564000	0.60830	2.457000	0.83068	0.561000	0.74099	ACG		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			73	344	0	0	0	1	0	73	344					T	124326011	C	T	124326011	3	4	40	1	0	0	0	0	1	0	0	0	4614	536	19	1	5039	1	DNAH10	12	124326011	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3191744	124326011	9525884	65	4781											
DHX37	57647	broad.mit.edu	37	chr12	125465272	125465272	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccagctccgattccgactCctcctcctcctcctcctcct	3	23	0	0	rs376470858		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:125465272C>A	ENST00000308736.2	-	4	600	c.502G>T	c.(502-504)Gag>Tag	p.E168*	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GATTCCGActcctcctcctcc	0.692																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)Gag>Tag		DEAH (Asp-Glu-Ala-His) box polypeptide 37							28	28	28					12																	125465272		2187	4284	6471	SO:0001587	stop_gained	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465272C>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502G>T	12.37:g.125465272C>A	ENSP00000311135:p.Glu168*						p.E168*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	Nonsense_Mutation	SNP	ENST00000308736.2	37	c.502G>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099842	0.56183	.	.	ENSG00000150990	ENST00000308736	.	.	.	.	.	.	.	0.782144	0.11782	N	0.530105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	.	.	.	.	.	.	.	X	168	.	ENSP00000311135:E168X	E	-	1	0	DHX37	124031225	0.006000	0.16342	0.169000	0.22859	0.073000	0.16967	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GAG		0.692	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		7	31	1	0	3.09899e-07	1	3.31419e-07	7	31					A	125465272	C	A	125465272	4	1	40	1	0	0	0	0	0	1	0	0	4526	864	30	3	3067	3	DHX37	12	125465272	Nonsense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1139261	125465272	8386623	66	4782											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	520						7	520	---	---	---	---	-	46542017	CT	-	46542016	7	5	40	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-3E-AAAZ-01A-11D-A38G-08		46542016	68627862	67	4783											
MYO16	23026	broad.mit.edu	37	chr13	109777647	109777647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccgtagtgaaatgaaCgctccctaccataaagagaa	9	11	0	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:109777647C>T	ENST00000357550.2	+	29	3698	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	MYO16_ENST00000356711.2_Silent_p.N1219N|MYO16_ENST00000457511.2_Silent_p.N731N	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGAAATGAACGCTCCCTACC	0.458																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3655-3657)aaC>aaT		myosin XVI							62	58	59					13																	109777647		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777647C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3657C>T	13.37:g.109777647C>T						MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000357550.2_Silent_p.N1219N	p.N1219N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3783	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1219						Silent	SNP	ENST00000357550.2	37	c.3657C>T	CCDS32008.1																																																																																				0.458	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		32	178	0	0	0	1	0	32	178					T	109777647	C	T	109777647	2	4	40	1	0	0	0	0	0	0	0	1	10105	535	19	1		1	MYO16	13	109777647	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	63235631	109777647	5392231	68	4784											
C14orf174	161394	broad.mit.edu	37	chr14	77846757	77846757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaaacttcatcagtggccGaaaactcattcacgtcaact	5	13	5	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr14:77846757G>A	ENST00000216471.4	+	2	2007	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	574	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCAGTGGCCGAAAACTCATT	0.433																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1720-1722)cGa>cAa		sterile alpha motif domain containing 15							150	121	131					14																	77846757		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77846757G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1721G>A	14.37:g.77846757G>A	ENSP00000216471:p.Arg574Gln					SAMD15_ENST00000533095.2_5'UTR	p.R574Q	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			2	2007	+			574			SAM.		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1721G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554722	0.45487	.	.	ENSG00000100583	ENST00000216471	D	0.84873	-1.91	5.07	1.12	0.20585	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.859730	0.09191	N	0.836016	T	0.76807	0.4039	L	0.43646	1.37	0.22066	N	0.999384	B	0.24963	0.115	B	0.18263	0.021	T	0.59968	-0.7354	10	0.30854	T	0.27	-5.6633	6.0754	0.19913	0.2325:0.1411:0.6264:0.0	.	574	Q9P1V8	SAM15_HUMAN	Q	574	ENSP00000216471:R574Q	ENSP00000216471:R574Q	R	+	2	0	SAMD15	76916510	0.713000	0.27926	0.996000	0.52242	0.913000	0.54294	-0.007000	0.12810	0.149000	0.19098	0.561000	0.74099	CGA		0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		36	164	0	0	0	1	0	36	164					A	77846757	G	A	77846757	3	1	40	1	0	0	0	0	1	0	0	0	1764	1058	37	1	1727	1	C14orf174	14	77846757	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		77846757	29502783	69	4785											
BAHD1	22893	broad.mit.edu	37	chr15	40756141	40756141	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgagtccgggacaccgtcCttctcaaatcaggcccacga	9	16	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:40756141C>G	ENST00000416165.1	+	4	1968	c.1897C>G	c.(1897-1899)Ctt>Gtt	p.L633V	BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000561234.1_Missense_Mutation_p.L632V|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	633	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGACACCGTCCTTCTCAAATC	0.592																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1894-1896)Ctt>Gtt		bromo adjacent homology domain containing 1							106	94	98					15																	40756141		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40756141C>G	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1897C>G	15.37:g.40756141C>G	ENSP00000396976:p.Leu633Val					BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000416165.1_Missense_Mutation_p.L633V	p.L632V			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	4	2153	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	633			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1894C>G	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871132	0.91587	.	.	ENSG00000140320	ENST00000416165	D	0.86865	-2.18	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.068049	0.64402	D	0.000012	D	0.92018	0.7471	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.959;0.998;0.997	D	0.90870	0.4745	10	0.41790	T	0.15	-24.8954	19.0957	0.93249	0.0:1.0:0.0:0.0	.	633;633;632	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	V	633	ENSP00000396976:L633V	ENSP00000396976:L633V	L	+	1	0	BAHD1	38543433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	2.755000	0.94549	0.655000	0.94253	CTT		0.592	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		42	127	0	0	0	1	0	42	127					G	40756141	C	G	40756141	3	3	40	1	0	0	0	0	1	0	0	0	1298	681	24	5	1907	5	BAHD1	15	40756141	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		40756141	61775251	70	4786											
LINGO1	84894	broad.mit.edu	37	chr15	77906745	77906745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagtcgttgccgcccgCgttggccgcgatgcacaggt	15	13	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:77906745C>T	ENST00000355300.6	-	2	1678	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	502	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCCGCCCGCGTTGGCCGCG	0.637																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1504-1506)Gcg>Acg		leucine rich repeat and Ig domain containing 1							40	44	43					15																	77906745		2132	4216	6348	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906745C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1504G>A	15.37:g.77906745C>T	ENSP00000347451:p.Ala502Thr					LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	p.A502T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1678	-			502			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1504G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222208	0.79464	.	.	ENSG00000169783	ENST00000355300	T	0.67171	-0.25	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	L	0.55743	1.74	0.80722	D	1	D	0.63046	0.992	P	0.57679	0.825	T	0.70303	-0.4909	10	0.22706	T	0.39	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	502	Q96FE5	LIGO1_HUMAN	T	502	ENSP00000347451:A502T	ENSP00000347451:A502T	A	-	1	0	LINGO1	75693800	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GCG		0.637	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		12	121	0	0	0	1	0	12	121					T	77906745	C	T	77906745	3	4	40	1	0	0	0	0	1	0	0	0	8847	768	27	1	362	1	LINGO1	15	77906745	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	37150604	77906745	24624647	71	4787											
HS3ST6	64711	broad.mit.edu	37	chr16	1962193	1962193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcccatccagggttcGgggcatcagactcctgcggg	14	13	2	1	rs371972747		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:1962193G>A	ENST00000293937.3	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*	HS3ST6_ENST00000454677.2_Nonsense_Mutation_p.R160*|HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCCAGGGTTCGGGGCATCAGA	0.692																																						ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(478-480)Cga>Tga		heparan sulfate (glucosamine) 3-O-sulfotransferase 6		G	stop/ARG	1,4379		0,1,2189	12	14	13		334	4.9	0.7	16		13	0,8588		0,0,4294	no	stop-gained	HS3ST6	NM_001009606.2		0,1,6483	AA,AG,GG		0.0,0.0228,0.0077		112/312	1962193	1,12967	2190	4294	6484	SO:0001587	stop_gained	64711							g.chr16:1962193G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.427C>T	16.37:g.1962193G>A	ENSP00000293937:p.Arg143*					HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*|HS3ST6_ENST00000293937.3_Nonsense_Mutation_p.R143*	p.R160*			C9JH64	C9JH64_HUMAN			2	543	-			112					Q96RX7	Nonsense_Mutation	SNP	ENST00000293937.3	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	G	13.70	2.316851	0.40996	2.28E-4	0.0	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2723	0.54712	0.0:0.0:0.8304:0.1696	.	.	.	.	X	143;112;182	.	ENSP00000293937:R143X	R	-	1	2	HS3ST6	1902194	0.990000	0.36364	0.651000	0.29564	0.066000	0.16364	2.443000	0.44881	2.287000	0.76781	0.555000	0.69702	CGA		0.692	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		16	57	0	0	0	1	0	16	57					A	1962193	G	A	1962193	4	1	40	1	0	0	0	0	0	1	0	0	7399	1124	39	1	605	1	HS3ST6	16	1962193	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		1962193	88392560	72	4788											
BTBD12	84464	broad.mit.edu	37	chr16	3658718	3658718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcttcttatctgagtgCcgtttgaggcagccttttgt	10	8	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:3658718C>T	ENST00000294008.3	-	2	888	c.248G>A	c.(247-249)gGc>gAc	p.G83D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	83	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TATCTGAGTGCCGTTTGAGGC	0.458								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(247-249)gGc>gAc	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							172	156	162					16																	3658718		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658718C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.248G>A	16.37:g.3658718C>T	ENSP00000294008:p.Gly83Asp						p.G83D	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			2	888	-			83			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.248G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559006	0.13436	.	.	ENSG00000188827	ENST00000294008	T	0.01172	5.23	5.52	3.52	0.40303	.	1.253230	0.05848	N	0.620726	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	P	0.45902	0.868	B	0.42386	0.386	T	0.52102	-0.8620	10	0.33940	T	0.23	.	6.3924	0.21593	0.1503:0.6881:0.0:0.1616	.	83	Q8IY92	SLX4_HUMAN	D	83	ENSP00000294008:G83D	ENSP00000294008:G83D	G	-	2	0	SLX4	3598719	0.137000	0.22531	0.178000	0.23040	0.049000	0.14656	0.640000	0.24705	0.756000	0.33013	0.655000	0.94253	GGC		0.458	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		8	594	0	0	0	1	0	8	594					T	3658718	C	T	3658718	3	4	40	1	0	0	0	0	1	0	0	0	1544	739	26	2	5312	2	BTBD12	16	3658718	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1696525	3658718	86696035	73	4789											
NTAN1	123803	broad.mit.edu	37	chr16	15131931	15131931	+	Frame_Shift_Del	DEL	T	T	-													tttcccacaagccatcttcaTtttttttgtagagtagggct							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:15131931delT	ENST00000287706.3	-	10	982	c.890delA	c.(889-891)aatfs	p.N297fs	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	297					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						GCCATCTTCATTTTTTTTGTA	0.383																																						ENST00000287706.3																			0				endometrium(1)|large_intestine(4)|lung(3)	8						c.(889-891)atfs		N-terminal asparagine amidase							88	91	90					16																	15131931		2197	4299	6496	SO:0001589	frameshift_variant	123803					cytoplasm		g.chr16:15131931delT	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.890delA	16.37:g.15131931delT	ENSP00000287706:p.Asn297fs					PDXDC1_ENST00000535621.2_Intron	p.N297fs	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN			10	982	-			297					Q7Z4Z0	Frame_Shift_Del	DEL	ENST00000287706.3	37	c.890delA	CCDS10558.1																																																																																				0.383	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		7	659						7	659	---	---	---	---	-	15131931	T	-	15131931	7	5	40	1	0	1	0	1	0	0	0	0	10737	1493	52	0	46	0	NTAN1	16	15131931	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	11473213	15131931	75222822	74	4790											
DNAH3	55567	broad.mit.edu	37	chr16	21049118	21049118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgcgctaagaacttggCcagattgacatcaagcaatg	9	9	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:21049118C>T	ENST00000261383.3	-	34	4914	c.4915G>A	c.(4915-4917)Gcc>Acc	p.A1639T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1639					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)			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)		AAGAACTTGGCCAGATTGACA	0.498																																						ENST00000261383.3																			0				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						c.(4915-4917)Gcc>Acc		dynein, axonemal, heavy chain 3							143	112	122					16																	21049118		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.chr16:21049118C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4915G>A	16.37:g.21049118C>T	ENSP00000261383:p.Ala1639Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	p.A1639T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4914	-			1639					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4915G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773845	0.69992	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39592	1.07;1.07	5.6	5.6	0.85130	.	0.127782	0.51477	D	0.000088	T	0.69566	0.3125	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.75795	-0.3192	10	0.87932	D	0	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	1639	Q8TD57	DYH3_HUMAN	T	1639	ENSP00000261383:A1639T;ENSP00000394245:A1639T	ENSP00000261383:A1639T	A	-	1	0	DNAH3	20956619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.920000	0.56446	2.648000	0.89879	0.561000	0.74099	GCC		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	169	0	0	0	1	0	4	169					T	21049118	C	T	21049118	3	4	40	1	0	0	0	0	1	0	0	0	4619	739	26	2	7550	2	DNAH3	16	21049118	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	5917187	21049118	69305635	75	4791											
ZNF688	146542	broad.mit.edu	37	chr16	30581656	30581656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagctgggtcagggttgcGttccaccagcacttcaggac	12	11	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30581656G>A	ENST00000223459.6	-	3	1516	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCAGGGTTGCGTTCCACCAGC	0.607																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(412-414)Cgc>Tgc		zinc finger protein 688							49	46	47					16																	30581656		2197	4300	6497	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581656G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.412C>T	16.37:g.30581656G>A	ENSP00000223459:p.Arg138Cys					ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C	p.R138C	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1516	-			138					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.412C>T	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342937	0.24339	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.85	4.38	2.33	0.28932	.	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P;D	0.53151	0.696;0.958	B;B	0.38296	0.186;0.27	T	0.44498	-0.9324	9	0.51188	T	0.08	.	8.6385	0.33964	0.0939:0.1533:0.7528:0.0	.	138;124	P0C7X2;A8MV39	ZN688_HUMAN;.	C	124;138	ENSP00000378645:R124C;ENSP00000223459:R138C	ENSP00000223459:R138C	R	-	1	0	ZNF688	30489157	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.191000	0.20236	-1.151000	0.01829	CGC		0.607	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		67	262	0	0	0	1	0	67	262					A	30581656	G	A	30581656	3	1	40	1	0	0	0	0	1	0	0	0	18146	1145	40	1	422	1	ZNF688	16	30581656	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	9532538	30581656	59773097	76	4792											
ORAI3	93129	broad.mit.edu	37	chr16	30964972	30964974	+	In_Frame_Del	DEL	GTG	GTG	-													ctgcccaccccggcaagcctGtggtggtggtggggcccatg							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30964972_30964974delGTG	ENST00000318663.4	+	2	919_921	c.695_697delGTG	c.(694-699)tgtggt>tgt	p.G236del	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_In_Frame_Del_p.G236del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	236					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGCAAGCCTGTGGTGGTGGTGG	0.645											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(694-699)tgt>t		ORAI calcium release-activated calcium modulator 3																																				SO:0001651	inframe_deletion	93129					integral to membrane	protein binding	g.chr16:30964972_30964974delGTG	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.695_697delGTG	16.37:g.30964981_30964983delGTG	ENSP00000322249:p.Gly236del		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	p.CG232del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	919_921	+			232					Q96BI8	In_Frame_Del	DEL	ENST00000318663.4	37	c.695_697delGTG	CCDS10697.1																																																																																				0.645	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		9	637						9	637	---	---	---	---	-	30964974	GTG	-	30964972	7	5	40	1	0	1	0	1	0	0	0	0	11301	1377	48	0	701	0	ORAI3	16	30964972	In_Frame_Del	DEL	GTG	TCGA-3E-AAAZ-01A-11D-A38G-08	383316	30964972	59389781	77	4793											
CPNE2	221184	broad.mit.edu	37	chr16	57153169	57153169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggagacgatggcaagtgGatgctggtccacaggactga	15	9	0	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:57153169G>A	ENST00000535318.2	+	7	931	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*			Q96FN4	CPNE2_HUMAN	copine II	190	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATGGCAAGTGGATGCTGGTCC	0.582																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(568-570)tgG>tgA		copine II							103	93	97					16																	57153169		2198	4300	6498	SO:0001587	stop_gained	221184							g.chr16:57153169G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.570G>A	16.37:g.57153169G>A	ENSP00000439018:p.Trp190*					CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*	p.W190*			Q96FN4	CPNE2_HUMAN			7	931	+		all_neural(199;0.224)	190			C2 2.		Q68D19|Q719H8|Q86XP9	Nonsense_Mutation	SNP	ENST00000535318.2	37	c.570G>A	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	43	10.004895	0.99315	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2675	19.397	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	190;88;190	.	ENSP00000290776:W190X	W	+	3	0	CPNE2	55710670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.594000	0.87642	0.555000	0.69702	TGG		0.582	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		76	387	0	0	0	1	0	76	387					A	57153169	G	A	57153169	4	1	40	1	0	0	0	0	0	1	0	0	3821	1183	41	2	588	2	CPNE2	16	57153169	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	26188197	57153169	33201584	78	4794											
ZNF821	55565	broad.mit.edu	37	chr16	71894200	71894200	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcccgatcccgctgCagccggcgtgcccgctgctc	12	19	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:71894200C>A	ENST00000565601.1	-	7	1367	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ZNF821_ENST00000313565.6_Silent_p.L278L|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000425432.1_Silent_p.L320L	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GATCCCGCTGCAGCCGGCGTG	0.672																																						ENST00000425432.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(958-960)ctG>ctT		zinc finger protein 821							26	27	27					16																	71894200		2196	4298	6494	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71894200C>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.960G>T	16.37:g.71894200C>A						RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Silent_p.L278L|ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000565601.1_Silent_p.L320L|ZNF821_ENST00000564134.1_3'UTR	p.L320L	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN			8	1339	-			320					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.960G>T	CCDS56006.1																																																																																				0.672	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		5	183	1	0	1.23904e-05	1	1.28927e-05	5	183					A	71894200	C	A	71894200	2	1	40	1	0	0	0	0	0	0	0	1	18231	697	25	3		3	ZNF821	16	71894200	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	14741031	71894200	18460553	79	4795											
CHMP1A	5119	broad.mit.edu	37	chr16	89718035	89718035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttcttggccagcttcTccagctgcttcgccgtgaac	9	17	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:89718035T>C	ENST00000397901.3	-	3	303	c.47A>G	c.(46-48)gAg>gGg	p.E16G	CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000253475.5_Silent_p.G9G	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	16					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCAGCTTCTCCAGCTGCTT	0.632																																						ENST00000397901.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(46-48)gAg>gGg		charged multivesicular body protein 1A							62	69	67					16																	89718035		2024	4179	6203	SO:0001583	missense	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89718035T>C	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.47A>G	16.37:g.89718035T>C	ENSP00000380998:p.Glu16Gly					CHMP1A_ENST00000253475.5_Silent_p.G9G|CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR	p.E16G	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	303	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	16					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.47A>G	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611348	0.66558	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.74106	-0.81;-0.81	4.81	4.81	0.61882	.	.	.	.	.	T	0.70202	0.3197	.	.	.	0.80722	D	1	P	0.38300	0.626	B	0.40782	0.34	T	0.69101	-0.5234	7	.	.	.	-1.7391	14.6528	0.68811	0.0:0.0:0.0:1.0	.	16	Q9HD42	CHM1A_HUMAN	G	16	ENSP00000380998:E16G;ENSP00000449243:E16G	.	E	-	2	0	CHMP1A	88245536	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.600000	0.82769	1.905000	0.55150	0.533000	0.62120	GAG		0.632	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		4	155	0	0	0	1	0	4	155					C	89718035	T	C	89718035	3	2	40	1	0	0	0	0	1	0	0	0	3361	1551	54	4	715	4	CHMP1A	16	89718035	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	17823835	89718035	636718	80	4796											
SLC16A13	201232	broad.mit.edu	37	chr17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcacatttgcccccTttttccagtggctgctcagc	6	17	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652																																						ENST00000308027.6																			1	Substitution - Missense(1)	p.F158L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(472-474)Ttt>Ctt		solute carrier family 16, member 13							62	66	64					17																	6941599		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941599T>C	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.472T>C	17.37:g.6941599T>C	ENSP00000309751:p.Phe158Leu						p.F158L	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	780	+			158					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.472T>C	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120233	0.08881	.	.	ENSG00000174327	ENST00000308027	T	0.48522	0.81	5.54	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192516	0.46442	N	0.000288	T	0.13713	0.0332	N	0.01202	-0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	10	0.02654	T	1	.	10.4076	0.44274	0.0:0.5248:0.0:0.4752	.	158	Q7RTY0	MOT13_HUMAN	L	158	ENSP00000309751:F158L	ENSP00000309751:F158L	F	+	1	0	SLC16A13	6882323	0.479000	0.25925	0.535000	0.28026	0.981000	0.71138	1.161000	0.31773	-0.053000	0.13289	-0.313000	0.08912	TTT		0.652	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			4	278	0	0	0	1	0	4	278					C	6941599	T	C	6941599	3	2	40	1	0	0	0	0	1	0	0	0	14456	1609	56	4	482	4	SLC16A13	17	6941599	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08		6941599	74253611	81	4797											
COASY	80347	broad.mit.edu	37	chr17	40714982	40714982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacccgccagaagtcgtGttgacagatttccagaccct	9	15	0	4			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:40714982G>A	ENST00000393818.2	+	1	798	c.342G>A	c.(340-342)gtG>gtA	p.V114V	COASY_ENST00000590958.1_Silent_p.V143V|COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000420359.1_Silent_p.V114V|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_De_novo_Start_InFrame	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	114					cell death (GO:0008219)|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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGAAGTCGTGTTGACAGATT	0.562																																						ENST00000449624.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21								CoA synthase							160	156	157					17																	40714982		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714982G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.342G>A	17.37:g.40714982G>A						COASY_ENST00000393818.2_Silent_p.V114V|COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000590958.1_Silent_p.V143V|COASY_ENST00000420359.1_Silent_p.V114V				Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	0	178	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)						B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Translation_Start_Site	SNP	ENST00000393818.2	37		CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491978	0.26774	.	.	ENSG00000068120	ENST00000426807	.	.	.	5.57	-0.966	0.10320	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51220	-0.8733	6	0.87932	D	0	-22.1199	1.666	0.02802	0.1574:0.2286:0.3692:0.2448	.	.	.	.	I	90	.	ENSP00000390306:V90I	V	+	1	0	COASY	37968508	0.995000	0.38212	0.998000	0.56505	0.922000	0.55478	0.457000	0.21875	0.008000	0.14787	-0.305000	0.09177	GTT		0.562	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		91	916	0	0	0	1	0	91	916					A	40714982	G	A	40714982	2	1	40	1	0	0	0	0	0	0	0	1	3661	1364	48	2		2	COASY	17	40714982	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	33773383	40714982	40480228	82	4798											
C17orf53	78995	broad.mit.edu	37	chr17	42225373	42225373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgttacaccccactgctCcctcagaggctttgggcctg	10	15	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:42225373C>T	ENST00000319977.4	+	3	439	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	68										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCCCACTGCTCCCTCAGAGGC	0.622																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(202-204)Ccc>Tcc		chromosome 17 open reading frame 53							84	71	76					17																	42225373		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225373C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.202C>T	17.37:g.42225373C>T	ENSP00000313500:p.Pro68Ser					C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S	p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	439	+		Breast(137;0.0364)|Prostate(33;0.0376)	68					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.202C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604612	0.28623	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.49139	0.79;0.79	5.28	2.2	0.27929	.	0.378727	0.22038	N	0.065500	T	0.38558	0.1045	L	0.55481	1.735	0.09310	N	1	B;B;B	0.29646	0.084;0.253;0.084	B;B;B	0.29663	0.022;0.105;0.022	T	0.30297	-0.9983	10	0.51188	T	0.08	-0.8579	6.2724	0.20961	0.0:0.6818:0.1524:0.1659	.	68;68;68	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	68	ENSP00000313500:P68S;ENSP00000245382:P68S	ENSP00000245382:P68S	P	+	1	0	C17orf53	39580899	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	0.181000	0.16880	0.362000	0.24319	0.561000	0.74099	CCC		0.622	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		85	333	0	0	0	1	0	85	333					T	42225373	C	T	42225373	3	4	40	1	0	0	0	0	1	0	0	0	1868	855	30	2	212	2	C17orf53	17	42225373	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1510391	42225373	38969837	83	4799											
RNF43	54894	broad.mit.edu	37	chr17	56440904	56440904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgctcagcagcagctcGatcctcagtgatgtcaaaga	9	12	3	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:56440904G>A	ENST00000584437.1	-	3	2388	c.433C>T	c.(433-435)Cga>Tga	p.R145*	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*			Q68DV7	RNF43_HUMAN	ring finger protein 43	145					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R145*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCAGCTCGATCCTCAGTG	0.597																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.R145*(1)	pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(433-435)Cga>Tga		ring finger protein 43							127	122	123					17																	56440904		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440904G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.433C>T	17.37:g.56440904G>A	ENSP00000463069:p.Arg145*					RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|BZRAP1-AS1_ENST00000583841.1_RNA	p.R145*			Q68DV7	RNF43_HUMAN			3	2388	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		145					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.433C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	44	10.601706	0.99435	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.4	4.41	0.53225	.	0.592346	0.16161	N	0.226756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-19.4207	8.5535	0.33467	0.0:0.1579:0.5559:0.2861	.	.	.	.	X	145;104	.	ENSP00000385328:R145X	R	-	1	2	RNF43	53795903	0.980000	0.34600	0.994000	0.49952	0.991000	0.79684	2.127000	0.42035	1.234000	0.43709	0.591000	0.81541	CGA		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		138	545	0	0	0	1	0	138	545					A	56440904	G	A	56440904	4	1	40	1	0	0	0	0	0	1	0	0	13545	1066	37	1	1946	1	RNF43	17	56440904	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	14215531	56440904	24754306	84	4800											
CCDC46	201134	broad.mit.edu	37	chr17	64173012	64173012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaaagggccttcaagcGcacctcgtttaagcatatgc	10	10	1	0	rs150126064	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:64173012G>A	ENST00000392769.2	-	3	451	c.233C>T	c.(232-234)gCg>gTg	p.A78V	CEP112_ENST00000537949.1_Missense_Mutation_p.A78V|CEP112_ENST00000535342.2_Missense_Mutation_p.A78V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	78					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCCTTCAAGCGCACCTCGTTT	0.423																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(232-234)gCg>gTg		centrosomal protein 112kDa		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	135	117	123		233,233	-0.9	0	17	dbSNP_134	123	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	CEP112	NM_001199165.1,NM_145036.3	64,64	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	78/956,78/956	64173012	4,13002	2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64173012G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.233C>T	17.37:g.64173012G>A	ENSP00000376522:p.Ala78Val					CEP112_ENST00000537949.1_Missense_Mutation_p.A78V|CEP112_ENST00000535342.2_Missense_Mutation_p.A78V	p.A78V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			3	451	-			78					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.233C>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372938	0.05034	0.0	4.65E-4	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.38401	1.16;1.16;1.14	5.33	-0.924	0.10462	.	0.817271	0.10515	N	0.665636	T	0.06416	0.0165	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28870	-1.0030	10	0.02654	T	1	-0.3383	2.0237	0.03514	0.492:0.1211:0.27:0.1168	.	78;78	F5GYE8;Q8N8E3	.;CE112_HUMAN	V	78	ENSP00000442784:A78V;ENSP00000376522:A78V;ENSP00000440775:A78V	ENSP00000376522:A78V	A	-	2	0	CEP112	61603474	0.029000	0.19370	0.000000	0.03702	0.879000	0.50718	3.088000	0.50175	-0.549000	0.06191	-0.295000	0.09555	GCG		0.423	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		7	506	0	0	0	1	0	7	506					A	64173012	G	A	64173012	3	1	40	1	0	0	0	0	1	0	0	0	2824	1087	38	1	2900	1	CCDC46	17	64173012	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	7732108	64173012	17022198	85	4801											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2	rs551732034		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59	50	53					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	100	0	0	0	1	0	4	100					A	77705082	G	A	77705082	3	1	40	1	0	0	0	0	1	0	0	0	5153	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	13532070	77705082	3490128	86	4802											
SMAD2	4087	broad.mit.edu	37	chr18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagctttatgacatgcttGagcaacgcactgaaggggat	12	7	0	4			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423																																						ENST00000402690.2																			5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	p.S464*(4)|p.R462fs*>4(1)	large_intestine(4)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1390-1392)tCa>tGa		SMAD family member 2							162	130	141					18																	45368211		2203	4300	6503	SO:0001587	stop_gained	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368211G>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>G	18.37:g.45368211G>C	ENSP00000384449:p.Ser464*					SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*	p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1785	-			464			MH2.			Nonsense_Mutation	SNP	ENST00000402690.2	37	c.1391C>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA		0.423	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		45	181	0	0	0	1	0	45	181					C	45368211	G	C	45368211	4	2	40	1	0	0	0	0	0	1	0	0	14808	1294	45	5	16	5	SMAD2	18	45368211	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		45368211	32709037	87	4803											
SMAD4	4089	broad.mit.edu	37	chr18	48591889	48591889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctattgttactgttgAtggatacgtggacccttctg	10	10	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:48591889A>C	ENST00000342988.3	+	9	1590	c.1052A>C	c.(1051-1053)gAt>gCt	p.D351A	SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTGTTGATGGATACGTG	0.438																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1051-1053)gAt>gCt		SMAD family member 4							237	199	212					18																	48591889		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591889A>C	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1052A>C	18.37:g.48591889A>C	ENSP00000341551:p.Asp351Ala					SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A	p.D351A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1590	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	351		D -> N (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1052A>C	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942647	0.92526	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98437	-4.93;-4.93	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99239	0.9735	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99069	1.0833	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	351	Q13485	SMAD4_HUMAN	A	351	ENSP00000341551:D351A;ENSP00000381452:D351A	ENSP00000341551:D351A	D	+	2	0	SMAD4	46845887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAT		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		80	273	0	0	0	1	0	80	273					C	48591889	A	C	48591889	3	2	40	1	0	0	0	0	1	0	0	0	14810	333	12	4	1082	4	SMAD4	18	48591889	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	3223678	48591889	29485359	88	4804											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025540	60025540	+	Frame_Shift_Del	DEL	T	T	-													caggctacttctctgatgccTtttcctccacggacaaatgc							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:60025540delT	ENST00000586569.1	+	5	525	c.487delT	c.(487-489)tttfs	p.F163fs	TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	163					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTCTGATGCCTTTTCCTCCAC	0.443																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(487-489)ttfs		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							141	133	135					18																	60025540		2203	4300	6503	SO:0001589	frameshift_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025540delT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.487delT	18.37:g.60025540delT	ENSP00000465500:p.Phe163fs					TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs	p.F163fs	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			5	525	+		Colorectal(73;0.188)	163					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Frame_Shift_Del	DEL	ENST00000586569.1	37	c.487delT	CCDS11980.1																																																																																				0.443	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			7	911						7	911	---	---	---	---	-	60025540	T	-	60025540	7	5	40	1	0	1	0	1	0	0	0	0	16336	1609	56	0	505	0	TNFRSF11A	18	60025540	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	11433651	60025540	18051708	89	4805											
ZNF98	148198	broad.mit.edu	37	chr19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtagaaaggtttgaggCctcattataggctttcccac	10	8	1	2	rs201074450		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(664-666)Gcc>Acc		zinc finger protein 98							12	13	13					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575373C>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr						p.A222T	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	785	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	222						Missense_Mutation	SNP	ENST00000357774.5	37	c.664G>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	106	0	0	0	1	0	4	106					T	22575373	C	T	22575373	3	4	40	1	0	0	0	0	1	0	0	0	18256	739	26	2	1058	2	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		22575373	36553610	90	4806											
NUDT19	390916	broad.mit.edu	37	chr19	33183406	33183406	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcgccacttcctgcgGctgtgcgcccacctcgactg	11	19	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:33183406G>C	ENST00000397061.3	+	1	540	c.540G>C	c.(538-540)cgG>cgC	p.R180R	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	180	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACTTCCTGCGGCTGTGCGCCC	0.731																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(538-540)cgG>cgC		nudix (nucleoside diphosphate linked moiety X)-type motif 19							4	5	5					19																	33183406		1793	3922	5715	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183406G>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.540G>C	19.37:g.33183406G>C							p.R180R	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	540	+	Esophageal squamous(110;0.137)		180			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.540G>C	CCDS42543.1																																																																																				0.731	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		13	37	0	0	0	1	0	13	37					C	33183406	G	C	33183406	2	2	40	1	0	0	0	0	0	0	0	1	10778	1190	42	5		5	NUDT19	19	33183406	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	10608033	33183406	25945577	91	4807											
ZNF382	84911	broad.mit.edu	37	chr19	37118421	37118421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcattgtccatcagaaaaCtcacaaggtagaaaccacgg	7	12	3	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37118421C>T	ENST00000292928.2	+	5	1735	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000435416.1_Missense_Mutation_p.T540I|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	541	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAAAACTCACAAGGTA	0.383																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1618-1620)aCt>aTt		zinc finger protein 382							66	65	65					19																	37118421		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118421C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1622C>T	19.37:g.37118421C>T	ENSP00000292928:p.Thr541Ile					ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T541I	p.T540I			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	3114	+	Esophageal squamous(110;0.198)		541			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1619C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392618	0.01185	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06687	3.27;3.38;3.39;3.4	4.35	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.155759	0.30277	N	0.009982	T	0.02380	0.0073	N	0.02802	-0.49	0.29661	N	0.843215	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40997	-0.9533	10	0.07813	T	0.8	.	4.1521	0.10242	0.0:0.5955:0.1948:0.2097	.	540;540;541	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	492;541;540;540	ENSP00000389722:T492I;ENSP00000292928:T541I;ENSP00000407593:T540I;ENSP00000410113:T540I	ENSP00000292928:T541I	T	+	2	0	ZNF382	41810261	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.905000	0.04075	1.192000	0.43071	0.591000	0.81541	ACT		0.383	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		44	284	0	0	0	1	0	44	284					T	37118421	C	T	37118421	3	4	40	1	0	0	0	0	1	0	0	0	17926	565	20	2	1632	2	ZNF382	19	37118421	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3935015	37118421	22010562	92	4808											
ZNF585B	92285	broad.mit.edu	37	chr19	37676154	37676154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctgctctgatgaacaCtgaacactgatttctgaacg	10	10	2	5			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37676154C>T	ENST00000532828.2	-	5	2536	c.2285G>A	c.(2284-2286)aGt>aAt	p.S762N	ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	762					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAACACTGAACACTGA	0.463																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(2284-2286)aGt>aAt		zinc finger protein 585B							169	147	154					19																	37676154		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676154C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2285G>A	19.37:g.37676154C>T	ENSP00000433773:p.Ser762Asn					ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|CTC-454I21.3_ENST00000585860.2_Intron	p.S762N	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2536	-			762					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2285G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197903	0.09652	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.15718	2.4;2.4;2.4	2.72	-0.663	0.11410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.836945	0.10095	N	0.716705	T	0.08492	0.0211	N	0.16233	0.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37709	-0.9694	10	0.27082	T	0.32	.	4.5817	0.12262	0.0:0.4379:0.331:0.231	.	707;762	E9PQH3;Q52M93	.;Z585B_HUMAN	N	707;762;350	ENSP00000436774:S707N;ENSP00000433773:S762N;ENSP00000442139:S350N	ENSP00000442139:S350N	S	-	2	0	ZNF585B	42367994	0.000000	0.05858	0.093000	0.20910	0.199000	0.23934	-2.835000	0.00741	0.221000	0.20879	0.305000	0.20034	AGT		0.463	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		118	496	0	0	0	1	0	118	496					T	37676154	C	T	37676154	3	4	40	1	0	0	0	0	1	0	0	0	18071	565	20	2	28	2	ZNF585B	19	37676154	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	557733	37676154	21452829	93	4809											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"CDK4-binding protein p34SEI", "transcriptional regulator interacting with the PHD-bromodomain 1"					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		8	239						8	239	---	---	---	---	-	40929411	CTC	-	40929409	7	5	40	1	0	1	0	1	0	0	0	0	14170	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-3E-AAAZ-01A-11D-A38G-08	3253255	40929409	18199574	94	4810											
RSPH6A	81492	broad.mit.edu	37	chr19	46307696	46307696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgacctgcgtggcggcCgagatgcgggctatctgggc	19	11	1	2	rs146411467		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:46307696C>T	ENST00000221538.3	-	3	1609	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RSPH6A_ENST00000600188.1_Silent_p.S225S|RSPH6A_ENST00000597055.1_Silent_p.S489S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	489						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTGGCGGCCGAGATGCGGG	0.642																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1465-1467)tcG>tcA		radial spoke head 6 homolog A (Chlamydomonas)		C		0,4406		0,0,2203	45	45	45		1467	-1.7	1	19	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RSPH6A	NM_030785.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		489/718	46307696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46307696C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1467G>A	19.37:g.46307696C>T						RSPH6A_ENST00000600188.1_Silent_p.S225S|RSPH6A_ENST00000597055.1_Silent_p.S489S	p.S489S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			3	1609	-			489					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1467G>A	CCDS12675.1																																																																																				0.642	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	236	0	0	0	1	0	12	236					T	46307696	C	T	46307696	2	4	40	1	0	0	0	0	0	0	0	1	13757	639	23	1		1	RSPH6A	19	46307696	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	5378287	46307696	12821287	95	4811											
SAE1	10055	broad.mit.edu	37	chr19	47646755	47646755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttgtcttacaggctgCgggcctctcgggtgcttctt	12	10	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:47646755C>T	ENST00000270225.7	+	2	171	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SAE1_ENST00000413379.3_Missense_Mutation_p.R35W|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000540850.1_5'UTR	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	35					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.R35W(2)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTACAGGCTGCGGGCCTCTCG	0.458																																						ENST00000413379.3																			2	Substitution - Missense(2)	p.R35W(2)	endometrium(2)	endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(103-105)Cgg>Tgg		SUMO1 activating enzyme subunit 1							81	80	80					19																	47646755		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47646755C>T	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.103C>T	19.37:g.47646755C>T	ENSP00000270225:p.Arg35Trp					SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000270225.7_Missense_Mutation_p.R35W	p.R35W	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	2	205	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	35					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.103C>T	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049237	0.75846	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	4.81	0.61882	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86378	0.1727	10	0.72032	D	0.01	.	15.35	0.74376	0.1409:0.8591:0.0:0.0	.	35;35;35	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	W	35	ENSP00000416557:R35W;ENSP00000270225:R35W;ENSP00000440818:R35W;ENSP00000398818:R35W	ENSP00000270225:R35W	R	+	1	2	SAE1	52338595	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.111000	0.57838	1.471000	0.48121	-0.175000	0.13238	CGG		0.458	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		6	276	0	0	0	1	0	6	276					T	47646755	C	T	47646755	3	4	40	1	0	0	0	0	1	0	0	0	13855	759	27	1	109	1	SAE1	19	47646755	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1339059	47646755	11482228	96	4812											
CGB2	114336	broad.mit.edu	37	chr19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgctaagagagagacatgTcaaaggtagggtagatcgac	13	8	1	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	34						extracellular region (GO:0005576)		p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547																																						ENST00000359342.6																			1	Substitution - Missense(1)	p.S2P(1)	lung(1)	large_intestine(1)|lung(1)|stomach(1)	3						c.(4-6)Tca>Cca		chorionic gonadotropin, beta polypeptide 2							200	167	178					19																	49535356		2203	4300	6503	SO:0001583	missense	114336							g.chr19:49535356T>C	K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.4T>C	19.37:g.49535356T>C	ENSP00000352295:p.Ser2Pro					CTB-60B18.6_ENST00000591656.1_Intron	p.S2P	NM_033378.1	NP_203696.2				all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	122	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						B9ZVM5	Missense_Mutation	SNP	ENST00000359342.6	37	c.4T>C	CCDS12750.2	.	.	.	.	.	.	.	.	.	.	t	8.484	0.860516	0.17178	.	.	ENSG00000104818	ENST00000538959;ENST00000359342	T	0.39406	1.08	0.584	-0.679	0.11350	.	1.065520	0.07276	U	0.869916	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.57425	0.82	T	0.26883	-1.0090	9	0.30854	T	0.27	.	.	.	.	.	20	P01233-2	.	P	2	ENSP00000352295:S2P	ENSP00000352295:S2P	S	+	1	0	CGB2	54227168	0.002000	0.14202	0.411000	0.26484	0.130000	0.20726	-0.463000	0.06696	-0.224000	0.09928	0.076000	0.15429	TCA		0.547	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316745.1	NM_033378		6	438	0	0	0	1	0	6	438					C	49535356	T	C	49535356	3	2	40	1	0	0	0	0	1	0	0	0	3307	1667	58	4	6	4	CGB2	19	49535356	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	1888601	49535356	9593627	97	4813											
LILRB5	10990	broad.mit.edu	37	chr19	54759236	54759236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgtactggcccccgtGggagcggctcacagggccca	14	15	2	0	rs685082	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:54759236G>A	ENST00000316219.5	-	5	972	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000450632.1_Missense_Mutation_p.H280Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTGGGAGCGGCTC	0.672													.|||	6	0.00119808	0.003	0.0029	5008	,	,		15555	0.0		0.0	False		,,,				2504	0.0					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(838-840)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		A	TYR/HIS,TYR/HIS,TYR/HIS	16,4390	818.0+/-416.3	0,16,2187	41	43	42		865,565,865	-1.5	0	19	dbSNP_83	42	2,8596	813.8+/-407.0	0,2,4297	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	83,83,83	0,18,6484	AA,AG,GG		0.0233,0.3631,0.1384	benign,benign,benign	289/592,189/492,289/591	54759236	18,12986	2203	4299	6502	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54759236G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.865C>T	19.37:g.54759236G>A	ENSP00000320390:p.His289Tyr					LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000316219.5_Missense_Mutation_p.H289Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y	p.H280Y			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	915	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		289			Ig-like C2-type 3.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.838C>T	CCDS12885.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	5.767	0.325897	0.10900	0.003631	2.33E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00824	5.65;5.65;5.65;5.65	2.62	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.023490	0.07817	N	0.959130	T	0.02083	0.0065	M	0.77313	2.365	0.09310	N	1	B;P;B;P;P	0.49559	0.09;0.622;0.103;0.925;0.572	B;B;B;P;P	0.50754	0.17;0.115;0.075;0.632;0.649	T	0.41520	-0.9504	10	0.21540	T	0.41	.	3.3247	0.07062	0.1425:0.0:0.4145:0.443	rs685082;rs16985501	280;180;189;289;289	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Y	289;280;289;189	ENSP00000320390:H289Y;ENSP00000414225:H280Y;ENSP00000406478:H289Y;ENSP00000263430:H189Y	ENSP00000320390:H289Y	H	-	1	0	LILRB5	59451048	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.205000	0.17356	-0.171000	0.10797	-0.416000	0.06073	CAC		0.672	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	262	0	0	0	1	0	4	262					A	54759236	G	A	54759236	3	1	40	1	0	0	0	0	1	0	0	0	8826	1348	47	2	946	2	LILRB5	19	54759236	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	5223880	54759236	4369747	98	4814											
NLRP2	55655	broad.mit.edu	37	chr19	55494938	55494938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaggtgatggctcaGttcaaagaaatatccctgca	12	7	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:55494938G>A	ENST00000543010.1	+	6	2015	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	624					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGATGGCTCAGTTCAAAGAAA	0.502																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1870-1872)caG>caA		NLR family, pyrin domain containing 2							110	88	96					19																	55494938		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494938G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1872G>A	19.37:g.55494938G>A						NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q	p.Q624Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2015	+			624					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1872G>A	CCDS12913.1																																																																																				0.502	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		39	139	0	0	0	1	0	39	139					A	55494938	G	A	55494938	2	1	40	1	0	0	0	0	0	0	0	1	10519	1020	36	2		2	NLRP2	19	55494938	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	735702	55494938	3634045	99	4815											
SIRPA	140885	broad.mit.edu	37	chr20	1902132	1902132	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtcccacggcttctcAcccagagacatcaccctgaa	8	16	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000356025.3_Silent_p.S176S|SIRPA_ENST00000400068.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - coding silent(1)	p.S176S(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(526-528)tcA>tcT		signal-regulatory protein alpha							70	67	68					20																	1902132		2203	4297	6500	SO:0001819	synonymous_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902132A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.528A>T	20.37:g.1902132A>T						SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	680	+			176			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	c.528A>T	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	231	0	0	0	1	0	4	231					T	1902132	A	T	1902132	2	4	40	1	0	0	0	0	0	0	0	1	14382	146	6	5		5	SIRPA	20	1902132	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08		1902132	61123388	100	4816											
PDYN	5173	broad.mit.edu	37	chr20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctcttggggtatttgCgcaaaaagcccccatagcgt	10	12	1	0	rs377075531		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99	103	102					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His					RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			89	407	0	0	0	1	0	89	407					T	1961195	C	T	1961195	3	4	40	1	0	0	0	0	1	0	0	0	11741	768	27	1	229	1	PDYN	20	1961195	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	59063	1961195	61064325	101	4817											
SEL1L2	80343	broad.mit.edu	37	chr20	13846127	13846127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcaggaatttctcagCccagtggcctagttcacaga	10	11	3	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:13846127C>T	ENST00000284951.5	-	16	1512	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	480						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATTTCTCAGCCCAGTGGCCT	0.433																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1438-1440)Gct>Act		sel-1 suppressor of lin-12-like 2 (C. elegans)							83	79	80					20																	13846127		1900	4111	6011	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13846127C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1438G>A	20.37:g.13846127C>T	ENSP00000284951:p.Ala480Thr					SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron	p.A480T			Q5TEA6	SE1L2_HUMAN			16	1512	-			480					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1438G>A		.	.	.	.	.	.	.	.	.	.	C	18.20	3.570723	0.65765	.	.	ENSG00000101251	ENST00000284951	T	0.50813	0.73	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000036	T	0.52403	0.1732	L	0.39245	1.2	0.46260	D	0.998956	D	0.67145	0.996	P	0.61070	0.883	T	0.36286	-0.9754	10	0.14656	T	0.56	-7.8336	12.6549	0.56782	0.165:0.835:0.0:0.0	.	480	Q5TEA6	SE1L2_HUMAN	T	480	ENSP00000284951:A480T	ENSP00000284951:A480T	A	-	1	0	SEL1L2	13794127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	2.774000	0.95407	0.655000	0.94253	GCT		0.433	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		18	363	0	0	0	1	0	18	363					T	13846127	C	T	13846127	3	4	40	1	0	0	0	0	1	0	0	0	14061	739	26	2	648	2	SEL1L2	20	13846127	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	11884932	13846127	49179393	102	4818											
BCAS1	8537	broad.mit.edu	37	chr20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-													gttggctgtcacctggcaccTtttcctgtcccttgtccagc					rs143209009		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)aagfs	p.K206fs	BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)			ACCTGGCACCTTTTCCTGTCC	0.552																																						ENST00000395961.3																			0				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						c.(616-618)agfs		breast carcinoma amplified sequence 1							227	209	215					20																	52645037		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52645037delT	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.617delA	20.37:g.52645037delT	ENSP00000379290:p.Lys206fs					BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	783	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		206					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.617delA	CCDS13444.1																																																																																				0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	1011						8	1011	---	---	---	---	-	52645037	T	-	52645037	7	5	40	1	0	1	0	1	0	0	0	0	1351	1609	56	0	1173	0	BCAS1	20	52645037	Frame_Shift_Del	DEL	T	TCGA-3E-AAAZ-01A-11D-A38G-08	38798910	52645037	10380483	103	4819											
BACH1	571	broad.mit.edu	37	chr21	30693720	30693720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgatgtcaccatctttgTggagggacagcggttccgcg	15	10	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr21:30693720T>C	ENST00000399921.1	+	2	362	c.119T>C	c.(118-120)gTg>gCg	p.V40A	BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCATCTTTGTGGAGGGACAG	0.517																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(118-120)gTg>gCg		BTB and CNC homology 1, basic leucine zipper transcription factor 1							150	122	132					21																	30693720		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693720T>C	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.119T>C	21.37:g.30693720T>C	ENSP00000382805:p.Val40Ala					BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	p.V40A	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			2	362	+			40			BTB.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.119T>C	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270251	0.80469	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.49830	0.1580	L	0.50993	1.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.41413	-0.9510	9	.	.	.	-19.2783	15.7695	0.78157	0.0:0.0:0.0:1.0	.	40	O14867	BACH1_HUMAN	A	40	ENSP00000286800:V40A;ENSP00000382805:V40A;ENSP00000400576:V40A;ENSP00000408605:V40A;ENSP00000392202:V40A	.	V	+	2	0	BACH1	29615591	1.000000	0.71417	0.996000	0.52242	0.569000	0.35902	5.701000	0.68325	2.183000	0.69458	0.451000	0.29950	GTG		0.517	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		104	357	0	0	0	1	0	104	357					C	30693720	T	C	30693720	3	2	40	1	0	0	0	0	1	0	0	0	1284	1696	59	4	121	4	BACH1	21	30693720	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08		30693720	17436175	104	4820											
PES1	23481	broad.mit.edu	37	chr22	30976083	30976083	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaggccggtcgacaatctGatgggtgatgcgggagtctg	16	10	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:30976083G>T	ENST00000405677.1	-	13	1652	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000402281.1_Missense_Mutation_p.Q237K	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGACAATCTGATGGGTGATG	0.577																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(709-711)Cag>Aag		pescadillo ribosomal biogenesis factor 1							153	145	148					22																	30976083		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976083G>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.709C>A	22.37:g.30976083G>T	ENSP00000385654:p.Gln237Lys					PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000405677.1_Missense_Mutation_p.Q237K|PES1_ENST00000354694.6_Missense_Mutation_p.Q376K	p.Q237K			O00541	PESC_HUMAN			13	1700	-			376			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.709C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.682142	0.96774	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.28	5.28	0.74379	BRCT (4);	0.127391	0.56097	D	0.000035	D	0.89781	0.6814	M	0.89287	3.02	0.80722	D	1	D;D;P;D	0.63046	0.969;0.992;0.925;0.969	P;D;P;P	0.67382	0.72;0.951;0.616;0.72	D	0.91528	0.5240	10	0.72032	D	0.01	-34.7935	18.5306	0.90990	0.0:0.0:1.0:0.0	.	376;359;371;376	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	K	376;237;237;359;371	ENSP00000346725:Q376K;ENSP00000384366:Q237K;ENSP00000385654:Q237K;ENSP00000384252:Q359K;ENSP00000334612:Q371K	ENSP00000334612:Q371K	Q	-	1	0	PES1	29306083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.655000	0.98512	2.467000	0.83353	0.655000	0.94253	CAG		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		110	456	1	0	1.33972e-64	1	1.50596e-64	110	456					T	30976083	G	T	30976083	3	4	40	1	0	0	0	0	1	0	0	0	11775	1299	45	3	660	3	PES1	22	30976083	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		30976083	20328483	105	4821											
ATRX	546	broad.mit.edu	37	chrX	76931742	76931744	+	In_Frame_Del	DEL	TCA	TCA	-													tattctcaggatcattgtcgTcatcatcatcatccactgtg							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:76931742_76931744delTCA	ENST00000373344.5	-	10	4000_4002	c.3786_3788delTGA	c.(3784-3789)gatgac>gac	p.1262_1263DD>D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1224_1225DD>D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1262	Interaction with DAXX.|Poly-Asp.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCATTGTCGTCATCATCATCAT	0.379			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3784-3789)gac>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76931742_76931744delTCA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3786_3788delTGA	X.37:g.76931751_76931753delTCA	ENSP00000362441:p.Asp1264del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.DD1224del	p.DD1262del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			10	4000_4002	-			1262			Poly-Asp.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.3786_3788delTGA	CCDS14434.1																																																																																				0.379	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	405						7	405	---	---	---	---	-	76931744	TCA	-	76931742	7	5	40	1	0	1	0	1	0	0	0	0	1209	1667	58	0	3794	0	ATRX	23	76931742	In_Frame_Del	DEL	TCA	TCGA-3E-AAAZ-01A-11D-A38G-08		76931742	78338818	106	4822											
HTR2C	3358	broad.mit.edu	37	chrX	114082716	114082716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcatagccgtttcaattCgcggactaaggccatcatga	10	10	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408																																						ENST00000276198.1																			1	Substitution - Missense(1)	p.S167L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(499-501)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						126	106	113					X																	114082716		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082716C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.500C>T	X.37:g.114082716C>T	ENSP00000276198:p.Ser167Leu					HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L	p.S167L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1228	+			167					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.500C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713163	0.89112	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.41400	1.0;1.0	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69369	0.3103	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.87932	D	0	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	167	P28335	5HT2C_HUMAN	L	167	ENSP00000276198:S167L;ENSP00000361019:S167L	ENSP00000276198:S167L	S	+	2	0	HTR2C	113988972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	1.704000	0.51252	0.544000	0.68410	TCG		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		78	193	0	0	0	1	0	78	193					T	114082716	C	T	114082716	3	4	40	1	0	0	0	0	1	0	0	0	7473	893	31	1	510	1	HTR2C	23	114082716	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	37150974	114082716	41187844	107	4823											
MEGF6	1953	broad.mit.edu	37	chr1	3413612	3413612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcccggtggcagggtGgcaggccgggttctcaccgg	19	12	1	0	rs199684134	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:3413612G>C	ENST00000356575.4	-	28	3779	c.3553C>G	c.(3553-3555)Cac>Gac	p.H1185D	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1185						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTGGCAGGGTGGCAGGCCGGG	0.692													G|||	5	0.000998403	0.0	0.0014	5008	,	,		14883	0.0		0.004	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3553-3555)Cac>Gac		multiple EGF-like-domains 6		G	ASP/HIS	3,3987		0,3,1992	11	18	16		3553	2.3	1	1		16	20,8230		0,20,4105	yes	missense	MEGF6	NM_001409.3	81	0,23,6097	CC,CG,GG		0.2424,0.0752,0.1879	benign	1185/1542	3413612	23,12217	1995	4125	6120	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3413612G>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3553C>G	1.37:g.3413612G>C	ENSP00000348982:p.His1185Asp					MEGF6_ENST00000294599.4_Intron	p.H1185D	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	28	3779	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1185					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.3553C>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	1.243	-0.620910	0.03636	7.52E-4	0.002424	ENSG00000162591	ENST00000356575	T	0.10860	2.83	4.24	2.29	0.28610	EGF-like, laminin (2);	0.058643	0.64402	N	0.000002	T	0.10895	0.0266	L	0.37630	1.12	0.35873	D	0.828358	P	0.35944	0.529	B	0.40477	0.33	T	0.20009	-1.0288	10	0.18276	T	0.48	-24.9682	14.3898	0.66970	0.0:0.4458:0.5542:0.0	.	1185	O75095	MEGF6_HUMAN	D	1185	ENSP00000348982:H1185D	ENSP00000348982:H1185D	H	-	1	0	MEGF6	3403472	0.989000	0.36119	0.994000	0.49952	0.566000	0.35808	1.347000	0.33975	0.406000	0.25560	0.561000	0.74099	CAC		0.692	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	26	0	0	0	0.115264	0	3	26					C	3413612	G	C	3413612	3	2	41	1	0	0	0	0	1	0	0	0	9503	1348	47	5	1112	5	MEGF6	1	3413612	Missense_Mutation	SNP	G	TCGA-F2-7273-01A-11D-2154-08		3413612	245837009	1	4824											
RBMXL1	494115	broad.mit.edu	37	chr1	89448500	89448501	+	In_Frame_Ins	INS	-	-	CAT													tctgccaaccctgtcacaacINSttgagtagagatcacttcgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:89448500_89448501insCAT	ENST00000321792.5	-	2	1436_1437	c.1009_1010insATG	c.(1009-1011)agt>aATGgt	p.337_337S>NG	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_In_Frame_Ins_p.337_337S>NG	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	337	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CCTGTCACAACTTGAGTAGAGA	0.5																																						ENST00000399794.2																			0											c.(1009-1011)ttg>ATGttg		RNA binding motif protein, X-linked-like 1																																				SO:0001652	inframe_insertion	494115						nucleotide binding|RNA binding	g.chr1:89448500_89448501insCAT	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1009_1010insATG	1.37:g.89448500_89448501insCAT	ENSP00000318415:p.Ser337delinsAsnGly					CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.336_337insM|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron	p.336_337insM	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1724_1725	-			336			Ser-rich.			In_Frame_Ins	INS	ENST00000321792.5	37	c.1009_1010insATG	CCDS716.1																																																																																				0.5	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		12	1515						12	1515	---	---	---	---	CAT	89448501	-	CAT	89448500	7	5	41	1	0	1	1	0	0	0	0	0	13203	565	20	0	166	0	RBMXL1	1	89448500	In_Frame_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	86034888	89448500	159802121	2	4825											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		7	523						7	523	---	---	---	---	-	92447230	AGC	-	92447228	7	5	41	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-F2-7273-01A-11D-2154-08	2998728	92447228	156803393	3	4826											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144	130	135					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	788						7	788	---	---	---	---	-	109477407	T	-	109477407	7	5	41	1	0	1	0	1	0	0	0	0	3469	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	17030179	109477407	139773214	4	4827											
ADAM30	11085	broad.mit.edu	37	chr1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-													agtatggattgcccggttacTttttttgtttcttgacactc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:120436591delT	ENST00000369400.1	-	1	2527	c.2369delA	c.(2368-2370)aagfs	p.K790fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	790					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2368-2370)agfs		ADAM metallopeptidase domain 30							256	265	262					1																	120436591		2203	4300	6503	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436591delT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2369delA	1.37:g.120436591delT	ENSP00000358407:p.Lys790fs						p.K790fs	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2527	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	790					A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.2369delA	CCDS907.1																																																																																				0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		9	1307						9	1307	---	---	---	---	-	120436591	T	-	120436591	7	5	41	1	0	1	0	1	0	0	0	0	248	1609	56	0	7	0	ADAM30	1	120436591	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	10959184	120436591	128814030	5	4828											
SV2A	9900	broad.mit.edu	37	chr1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-													catcactgggagcagggaagTcatcatcatcatcctcctcc					rs199556773		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gatgac>gac	p.56_57DD>D	SV2A_ENST00000369145.1_In_Frame_Del_p.56_57DD>D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCAGGGAAGTCATCATCATCAT	0.542																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(166-171)gac>ga		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001651	inframe_deletion	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885223_149885225delTCA	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.168_170delTGA	1.37:g.149885232_149885234delTCA	ENSP00000358142:p.Asp57del					SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	658_660	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		56			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	In_Frame_Del	DEL	ENST00000369146.3	37	c.168_170delTGA	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	624						7	624	---	---	---	---	-	149885225	TCA	-	149885223	7	5	41	1	0	1	0	1	0	0	0	0	15469	1667	58	0	2106	0	SV2A	1	149885223	In_Frame_Del	DEL	TCA	TCGA-F2-7273-01A-11D-2154-08	29448632	149885223	99365398	6	4829											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q	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	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		8	852						8	852	---	---	---	---	-	212115193	TGC	-	212115191	7	5	41	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-F2-7273-01A-11D-2154-08	62229968	212115191	37135430	7	4830											
TGFB2	7042	broad.mit.edu	37	chr1	218609370	218609371	+	Frame_Shift_Ins	INS	-	-	A													aaactataaagtccactaggINSaaaaaaaacagtgggaagac							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:218609370_218609371insA	ENST00000366930.4	+	5	1280_1281	c.813_814insA	c.(814-816)aaafs	p.K272fs	TGFB2_ENST00000366929.4_Frame_Shift_Ins_p.K300fs|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	272					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGTCCACTAGGAAAAAAAACAG	0.431																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(895-900)agaaaafs		transforming growth factor, beta 2																																				SO:0001589	frameshift_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609370_218609371insA	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.821dupA	1.37:g.218609378_218609378dupA	ENSP00000355897:p.Lys272fs					TGFB2_ENST00000366930.4_Frame_Shift_Ins_p.RK271fs|TGFB2_ENST00000479322.1_3'UTR	p.RK299fs	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1364_1365	+			271					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Frame_Shift_Ins	INS	ENST00000366930.4	37	c.897_898insA	CCDS1521.1																																																																																				0.431	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		7	466						7	466	---	---	---	---	A	218609371	-	A	218609370	7	5	41	1	0	1	1	0	0	0	0	0	15870	1165	41	0	919	0	TGFB2	1	218609370	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	6494179	218609370	30641251	8	4831											
BCL11A	53335	broad.mit.edu	37	chr2	60689253	60689254	+	Frame_Shift_Ins	INS	-	-	G													tctcggtggtggactaaacaINSgggggggagtgggtggaaag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:60689253_60689254insG	ENST00000335712.6	-	4	1020_1021	c.793_794insC	c.(793-795)ctgfs	p.L265fs	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L265fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	265	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(793-795)gttfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689253_60689254insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.794dupC	2.37:g.60689260_60689260dupG	ENSP00000338774:p.Leu265fs					BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000359629.5_Intron	p.V265fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1020_1021	-			265			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.793_794insC	CCDS1862.1																																																																																				0.584	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	328						8	328	---	---	---	---	G	60689254	-	G	60689253	7	5	41	1	0	1	1	0	0	0	0	0	1364	188	7	0	1823	0	BCL11A	2	60689253	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		60689253	182510120	9	4832											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		7	304						7	304	---	---	---	---	-	128046946	TCT	-	128046944	7	5	41	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-F2-7273-01A-11D-2154-08	67357691	128046944	115152429	10	4833											
FMNL2	114793	broad.mit.edu	37	chr2	153504389	153504390	+	Frame_Shift_Del	DEL	TT	TT	-													tttgatgatcagaacttgcgTtctgttaatggtgccgaaat							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:153504389_153504390delTT	ENST00000288670.9	+	26	3616_3617	c.3249_3250delTT	c.(3247-3252)cgttctfs	p.S1084fs	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	0					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAACTTGCGTTCTGTTAATGG	0.495																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3247-3252)cgctfs		formin-like 2																																				SO:0001589	frameshift_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153504389_153504390delTT	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.3249_3250delTT	2.37:g.153504389_153504390delTT	ENSP00000288670:p.Ser1084fs					FMNL2_ENST00000475377.2_3'UTR	p.RS1083fs	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			26	3616_3617	+			0					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Frame_Shift_Del	DEL	ENST00000288670.9	37	c.3249_3250delTT	CCDS46429.1																																																																																				0.495	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		10	1053						10	1053	---	---	---	---	-	153504390	TT	-	153504389	7	5	41	1	0	1	0	1	0	0	0	0	5977	1712	60	0	3351	0	FMNL2	2	153504389	Frame_Shift_Del	DEL	TT	TCGA-F2-7273-01A-11D-2154-08	25457445	153504389	89694984	11	4834											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-													tagctcaaataacagcagggAaaaaaaggctgatagagatc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AACAGCAGGGAAAAAAAGGCT	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2035-2037)gafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						61	65	64					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493804delA	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2256	+			679					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.2036delA	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	442						7	442	---	---	---	---	-	170493804	A	-	170493804	7	5	41	1	0	1	0	1	0	0	0	0	12371	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	16989415	170493804	72705569	12	4835											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(31-33)gggfs	p.G11fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	11					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)			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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-33)ggggggfs		RNA binding motif protein 45																																				SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977303_178977304insG	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.35dupG	2.37:g.178977308_178977308dupG	ENSP00000286070:p.Gly11fs		OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1950		p.GG10fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	122_123	+			10					Q6NYL0|Q8NFC9	Frame_Shift_Ins	INS	ENST00000286070.5	37	c.30_31insG	CCDS33335.1																																																																																				0.644	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		7	290						7	290	---	---	---	---	G	178977304	-	G	178977303	7	5	41	1	0	1	1	0	0	0	0	0	13189	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	8483499	178977303	64222070	13	4836											
DOCK10	55619	broad.mit.edu	37	chr2	225729790	225729790	+	Frame_Shift_Del	DEL	A	A	-													tcataaagtgccacactcacAaaaaaaggctcaatctgcat							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:225729790delA	ENST00000258390.7	-	12	1339	c.1272delT	c.(1270-1272)tttfs	p.F424fs	DOCK10_ENST00000409592.3_Frame_Shift_Del_p.F418fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	424					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACACTCACAAAAAAAGGCT	0.398																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1252-1254)ttfs		dedicator of cytokinesis 10							89	86	87					2																	225729790		1897	4124	6021	SO:0001589	frameshift_variant	55619						GTP binding	g.chr2:225729790delA	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1272delT	2.37:g.225729790delA	ENSP00000258390:p.Phe424fs					DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs	p.F418fs			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1367	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	424					B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Del	DEL	ENST00000258390.7	37	c.1254delT	CCDS46528.1																																																																																				0.398	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	624						8	624	---	---	---	---	-	225729790	A	-	225729790	7	5	41	1	0	1	0	1	0	0	0	0	4701	127	5	0	5468	0	DOCK10	2	225729790	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	46752487	225729790	17469583	14	4837											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	418						8	418	---	---	---	---	-	227660810	GCT	-	227660808	7	5	41	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	1931018	227660808	15538565	15	4838											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75	77	76					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		7	587						7	587	---	---	---	---	-	227896886	C	-	227896886	7	5	41	1	0	1	0	1	0	0	0	0	3702	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-F2-7273-01A-11D-2154-08	236078	227896886	15302487	16	4839											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	342						9	342	---	---	---	---	-	140810641	GCT	-	140810639	7	5	41	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08		140810639	50343637	17	4840											
PCDHB14	56122	broad.mit.edu	37	chr5	140605423	140605423	+	Frame_Shift_Del	DEL	T	T	-													gttcatgacactggtaggaaTatgggggaaatcgagaactt							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr5:140605423delT	ENST00000239449.4	+	1	2346	c.2346delT	c.(2344-2346)aatfs	p.N782fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.N629fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	782					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTAGGAATATGGGGGAAA	0.368																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2344-2346)aafs									77	86	83					5																	140605423		2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605423delT	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2346delT	5.37:g.140605423delT	ENSP00000239449:p.Asn782fs					PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.N629fs	p.N782fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2346	+			782					B4DPE2|Q4FZA4|Q4KN11	Frame_Shift_Del	DEL	ENST00000239449.4	37	c.2346delT	CCDS4256.1																																																																																				0.368	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		9	554						9	554	---	---	---	---	-	140605423	T	-	140605423	7	5	41	1	0	1	0	1	0	0	0	0	11581	1403	49	0	2348	0	PCDHB14	5	140605423	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08		140605423	40309837	18	4841											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	904						8	904	---	---	---	---	-	33411203	CAC	-	33411201	7	5	41	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-F2-7273-01A-11D-2154-08		33411201	137703866	19	4842											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-													ccgccctgctatcttctggcTtttcccttgaggatccccag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)tttfs	p.F668fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2002-2004)ttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1							332	336	334					6																	44221052		2203	4300	6503	SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221052delT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2002delT	6.37:g.44221052delT	ENSP00000360609:p.Phe668fs					HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs	p.F668fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2216	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		668					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.2002delT	CCDS4909.1																																																																																				0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		8	2344						8	2344	---	---	---	---	-	44221052	T	-	44221052	7	5	41	1	0	1	0	1	0	0	0	0	7432	1609	56	0	2040	0	HSP90AB1	6	44221052	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	10809851	44221052	126894015	20	4843											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		9	1169						9	1169	---	---	---	---	T	129959603	-	T	129959602	7	5	41	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	85738550	129959602	41155465	21	4844											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			9	513						9	513	---	---	---	---	-	131919846	T	-	131919846	7	5	41	1	0	1	0	1	0	0	0	0	9482	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	1960244	131919846	39195221	22	4845											
FOXP2	93986	broad.mit.edu	37	chr7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcaacaacagcagcagCaacaacaacaacaacagcag					rs576887296|rs398124272	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr7:114269971_114269973delCAA	ENST00000393494.2	+	5	787_789	c.508_510delCAA	c.(508-510)caadel	p.Q191del	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acagcagcagcaacaacaacaac	0.502														34	0.00678914	0.0015	0.0072	5008	,	,		16128	0.0228		0.004	False		,,,				2504	0.0					ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269971_114269973delCAA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.508_510delCAA	7.37:g.114269980_114269982delCAA	ENSP00000377132:p.Gln191del					AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del	p.Q116del			O15409	FOXP2_HUMAN			11	1103_1105	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.283_285delCAA	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		12	253						12	253	---	---	---	---	-	114269973	CAA	-	114269971	7	5	41	1	0	1	0	1	0	0	0	0	6054	711	25	0	656	0	FOXP2	7	114269971	In_Frame_Del	DEL	CAA	TCGA-F2-7273-01A-11D-2154-08		114269971	44868692	23	4846											
RGS22	26166	broad.mit.edu	37	chr8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T													tcgtcttctaggactgccaaINStttttttttctgcttattat					rs7841915	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	344						8	344	---	---	---	---	T	100990178	-	T	100990177	7	5	41	1	0	1	1	0	0	0	0	0	13355	98	4	0	327	0	RGS22	8	100990177	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		100990177	45373845	24	4847											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-													agatgcttaccttttcacccTtttccccttggccaaaaggt							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251	246	248					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	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.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	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)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	1643						8	1643	---	---	---	---	-	139809072	T	-	139809072	7	5	41	1	0	1	0	1	0	0	0	0	3690	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	38818895	139809072	6554950	25	4848											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	315						7	315	---	---	---	---	-	46969403	CAG	-	46969401	7	5	41	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-F2-7273-01A-11D-2154-08		46969401	88565346	26	4849											
FRMPD2	143162	broad.mit.edu	37	chr10	49409420	49409420	+	Frame_Shift_Del	DEL	T	T	-													cactgcttgtgatggtgaacTttttttgctgaaggaagcaa							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:49409420delT	ENST00000374201.3	-	15	2107	c.1805delA	c.(1804-1806)aagfs	p.K602fs	FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K570fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K577fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	602	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATGGTGAACTTTTTTTGCTG	0.463																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1804-1806)agfs		FERM and PDZ domain containing 2							185	154	164					10																	49409420		2203	4300	6503	SO:0001589	frameshift_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49409420delT	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1805delA	10.37:g.49409420delT	ENSP00000363317:p.Lys602fs					FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K570fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K577fs	p.K602fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	15	2107	-			602			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Del	DEL	ENST00000374201.3	37	c.1805delA	CCDS31195.1																																																																																				0.463	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		7	860						7	860	---	---	---	---	-	49409420	T	-	49409420	7	5	41	1	0	1	0	1	0	0	0	0	6085	1609	56	0	2184	0	FRMPD2	10	49409420	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	2440019	49409420	86125327	27	4850											
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000446342.1_Splice_Site_p.G137fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		7	2045						7	2045	---	---	---	---	-	75673298	A	-	75673298	6	5	41	0	1	1	0	1	0	0	0	0	12064	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-F2-7273-01A-11D-2154-08	26263878	75673298	59861449	28	4851											
MYST4	23522	broad.mit.edu	37	chr10	76789141	76789141	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaggaccaaaagaacaGcaaggaagtcgatacagagt	12	7	0	2			TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:76789141G>C	ENST00000287239.4	+	18	5048	c.4559G>C	c.(4558-4560)aGc>aCc	p.S1520T	KAT6B_ENST00000372711.1_Missense_Mutation_p.S1337T|KAT6B_ENST00000372725.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1228T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1520					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAAAAGAACAGCAAGGAAGTC	0.552																																						ENST00000287239.4																			0											c.(4558-4560)aGc>aCc		K(lysine) acetyltransferase 6B							99	98	98					10																	76789141		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789141G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4559G>C	10.37:g.76789141G>C	ENSP00000287239:p.Ser1520Thr					KAT6B_ENST00000372725.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1228T|KAT6B_ENST00000372711.1_Missense_Mutation_p.S1337T|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1228T	p.S1520T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	5048	+			1520					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4559G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381040	0.11466	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.77	4.77	0.60923	.	0.201349	0.34555	N	0.003872	T	0.62332	0.2419	N	0.24115	0.695	0.19775	N	0.999952	P;B;B	0.40794	0.729;0.027;0.01	B;B;B	0.38264	0.269;0.021;0.039	T	0.57376	-0.7822	10	0.37606	T	0.19	-0.3133	8.8288	0.35072	0.1688:0.0:0.8312:0.0	.	1337;1228;1520	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	1228;1228;1520;1228;1337	ENSP00000361810:S1228T;ENSP00000361809:S1228T;ENSP00000287239:S1520T;ENSP00000361799:S1228T;ENSP00000361796:S1337T	ENSP00000287239:S1520T	S	+	2	0	KAT6B	76459147	0.033000	0.19621	0.364000	0.25888	0.978000	0.69477	1.499000	0.35671	2.191000	0.70037	0.563000	0.77884	AGC		0.552	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		14	408	0	0	0	0.105934	0	14	408					C	76789141	G	C	76789141	3	2	41	1	0	0	0	0	1	0	0	0	10146	971	34	5	4621	5	MYST4	10	76789141	Missense_Mutation	SNP	G	TCGA-F2-7273-01A-11D-2154-08	1115843	76789141	58745606	29	4852											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr12:117624320delA	ENST00000330622.5	-	3	431	c.432delT	c.(430-432)tttfs	p.F144fs	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Frame_Shift_Del_p.F144fs			O94952	FBX21_HUMAN	F-box protein 21	144					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTTCATCCTCAAAAAAAATCT	0.373																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			1	Deletion - Frameshift(1)	p.F144fs*9(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(430-432)ttfs		F-box protein 21							98	97	97					12																	117624320		2203	4300	6503	SO:0001589	frameshift_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117624320delA	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.432delT	12.37:g.117624320delA	ENSP00000328187:p.Phe144fs					FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Frame_Shift_Del_p.F144fs	p.F144fs	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	3	506	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		144					B3KMF0|Q5BJG0|Q9H087	Frame_Shift_Del	DEL	ENST00000330622.5	37	c.432delT	CCDS9184.1																																																																																				0.373	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		8	484						8	484	---	---	---	---	-	117624320	A	-	117624320	7	5	41	1	0	1	0	1	0	0	0	0	5758	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08		117624320	16227575	30	4853											
FBXO33	254170	broad.mit.edu	37	chr14	39871612	39871612	+	Frame_Shift_Del	DEL	T	T	-													ccatataacttactgtttaaTttttttgccatcagggtcca							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr14:39871612delT	ENST00000298097.7	-	2	1040	c.703delA	c.(703-705)attfs	p.I235fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TACTGTTTAATTTTTTTGCCA	0.323																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(703-705)ttfs		F-box protein 33							102	94	97					14																	39871612		2203	4300	6503	SO:0001589	frameshift_variant	254170							g.chr14:39871612delT	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.703delA	14.37:g.39871612delT	ENSP00000298097:p.Ile235fs					FBXO33_ENST00000554190.1_Intron	p.I235fs	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	2	1040	-	Hepatocellular(127;0.213)		235					Q6PIR2|Q86TR2|Q86YE0	Frame_Shift_Del	DEL	ENST00000298097.7	37	c.703delA	CCDS9677.1																																																																																				0.323	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			7	272						7	272	---	---	---	---	-	39871612	T	-	39871612	7	5	41	1	0	1	0	1	0	0	0	0	5768	1493	52	0	976	0	FBXO33	14	39871612	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08		39871612	67477928	31	4854											
HERC2	8924	broad.mit.edu	37	chr15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC													agagctacacagcggaggcaINStacagggcgtagccagacgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)atgfs	p.M408fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAGCGGAGGCATACAGGGCGTA	0.515																																						ENST00000261609.7																			0				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						c.(1222-1224)gccfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_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.chr15:28515875_28515876insTC	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.1222_1223insGA	15.37:g.28515875_28515876insTC	ENSP00000261609:p.Met408fs						p.A408fs	NM_004667.5	NP_004658.3	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)	10	1330_1331	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	408						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1222_1223insGA	CCDS10021.1																																																																																				0.515	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	385						9	385	---	---	---	---	TC	28515876	-	TC	28515875	7	5	41	1	0	1	1	0	0	0	0	0	7088	217	8	0	13617	0	HERC2	15	28515875	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		28515875	74015517	32	4855											
C15orf40	123207	broad.mit.edu	37	chr15	83674354	83674354	+	Frame_Shift_Del	DEL	T	T	-													cctcatttcttgcttttatgTttttttggcttcctttttta							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr15:83674354delT	ENST00000513601.2	-	4	464	c.457delA	c.(457-459)acafs	p.T153fs	C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|C15orf40_ENST00000304177.5_Frame_Shift_Del_p.T126fs|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	153										large_intestine(3)|lung(2)|skin(1)	6						TGCTTTTATGTTTTTTTGGCT	0.488																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(376-378)cafs		chromosome 15 open reading frame 40							99	107	104					15																	83674354		2203	4300	6503	SO:0001589	frameshift_variant	123207							g.chr15:83674354delT	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.457delA	15.37:g.83674354delT	ENSP00000424666:p.Thr153fs					C15orf40_ENST00000513601.2_Frame_Shift_Del_p.T153fs|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000451195.3_Intron	p.T126fs	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN			4	490	-			126					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Frame_Shift_Del	DEL	ENST00000513601.2	37	c.376delA	CCDS32312.2																																																																																				0.488	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		7	855						7	855	---	---	---	---	-	83674354	T	-	83674354	7	5	41	1	0	1	0	1	0	0	0	0	1799	1725	60	0	342	0	C15orf40	15	83674354	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	55158479	83674354	18857038	33	4856											
SLC7A6	84138	broad.mit.edu	37	chr16	68330539	68330539	+	IGR	DEL	T	T	-													ctctatttcagctgagcgtgTttttccccatcgtgttctgc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr16:68330539delT	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.F428fs|SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		GCTGAGCGTGTTTTTCCCCAT	0.522																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(1279-1281)ttfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							263	230	241					16																	68330539		2198	4300	6498	SO:0001628	intergenic_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68330539delT		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		16.37:g.68330539delT						SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	11	1548	+		Ovarian(137;0.0563)	428					Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	ENST00000263997.6	37	c.1279delT	CCDS10865.1																																																																																				0.522	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		7	1203						7	1203	---	---	---	---	-	68330539	T	-	68330539	6	5	41	0	1	1	0	1	0	0	0	0	14751	1725	60	0		0	SLC7A6	16	68330539	IGR	DEL	T	TCGA-F2-7273-01A-11D-2154-08		68330539	22024214	34	4857											
KDM6B	23135	broad.mit.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs375218857|rs61462443		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(751-753)tcc>tACCACCcc		lysine (K)-specific demethylase 6B																																				SO:0001652	inframe_insertion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750177_7750178insACCACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup					KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP	p.251_251S>YHP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1141_1142	+			251			Pro-rich.		C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37	c.752_753insACCACC																																																																																					0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	115						10	115	---	---	---	---	ACCACC	7750178	-	ACCACC	7750177	7	5	41	1	0	1	1	0	0	0	0	0	8168	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		7750177	73445033	35	4858											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	310						7	310	---	---	---	---	-	8397097	CCT	-	8397095	7	5	41	1	0	1	0	1	0	0	0	0	10071	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-F2-7273-01A-11D-2154-08	646918	8397095	72798115	36	4859											
KIAA0802	23255	broad.mit.edu	37	chr18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-													cccaccgatcagctcaggggCccccccgttttacctgagca							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98	108	104					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			7	1095						7	1095	---	---	---	---	-	8793004	C	-	8793004	7	5	41	1	0	1	0	1	0	0	0	0	8224	726	26	0	1918	0	KIAA0802	18	8793004	Frame_Shift_Del	DEL	C	TCGA-F2-7273-01A-11D-2154-08		8793004	69284244	37	4860											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		8	193						8	193	---	---	---	---	-	1578374	CTC	-	1578372	7	5	41	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-F2-7273-01A-11D-2154-08		1578372	57550611	38	4861											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		9	289						9	289	---	---	---	---	-	6531151	GCT	-	6531149	7	5	41	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	4952777	6531149	52597834	39	4862											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	600						7	600	---	---	---	---	-	42753151	GAA	-	42753149	7	5	41	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-F2-7273-01A-11D-2154-08	36222000	42753149	16375834	40	4863											
PLA2G3	50487	broad.mit.edu	37	chr22	31536134	31536135	+	Frame_Shift_Ins	INS	-	-	T													catcctcccagctacatgacINStgcagcctcctatgcgcatc					rs573436695	byFrequency	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr22:31536134_31536135insT	ENST00000215885.3	-	1	458_459	c.206_207insA	c.(205-207)cagfs	p.Q69fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	69					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGCTACATGACTGCAGCCTCCT	0.649													?|T|TT|unsure	10	0.00199681	0.0	0.0014	5008	,	,		18401	0.0		0.0089	False		,,,				2504	0.0					ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(205-207)ctcfs		phospholipase A2, group III				1,4263		0,1,2131						3.5	0.3			69	46,8206		0,46,4080	no	frameshift	PLA2G3	NM_015715.3		0,47,6211	A1A1,A1R,RR		0.5574,0.0235,0.3755				47,12469				SO:0001589	frameshift_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31536134_31536135insT	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.207dupA	22.37:g.31536135_31536135dupT	ENSP00000215885:p.Gln69fs						p.L69fs	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	458_459	-			69					O95768	Frame_Shift_Ins	INS	ENST00000215885.3	37	c.206_207insA	CCDS13889.1																																																																																				0.649	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		7	565						7	565	---	---	---	---	T	31536135	-	T	31536134	7	5	41	1	0	1	1	0	0	0	0	0	12042	564	20	0	1350	0	PLA2G3	22	31536134	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		31536134	19768432	41	4864											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126	120	122					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	794						7	794	---	---	---	---	-	43218401	T	-	43218401	7	5	41	1	0	1	0	1	0	0	0	0	851	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	11682267	43218401	8086165	42	4865											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	351						7	351	---	---	---	---	-	76907784	TCC	-	76907782	7	5	41	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-F2-7273-01A-11D-2154-08		76907782	78362778	43	4866											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	231						9	231	---	---	---	---	-	149639327	CAG	-	149639325	7	5	41	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-F2-7273-01A-11D-2154-08	72731543	149639325	5631235	44	4867											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		13	446						13	446	---	---	---	---	-	150817144	GCT	-	150817142	7	5	41	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	1177817	150817142	4453418	45	4868											
RPL10	6134	broad.mit.edu	37	chrX	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-													gcatttttgacctggggcggAaaaaggcaaaagtggatgag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:153627860delA	ENST00000369817.2	+	5	691	c.115delA	c.(115-117)aaafs	p.K40fs	RPL10_ENST00000424325.2_Frame_Shift_Del_p.K40fs|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_5'UTR			P27635	RL10_HUMAN	ribosomal protein L10	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(115-117)aafs		ribosomal protein L10							134	130	131					X																	153627860		2203	4300	6503	SO:0001589	frameshift_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627860delA	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.115delA	X.37:g.153627860delA	ENSP00000358832:p.Lys40fs		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR	p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	303	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		40					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Frame_Shift_Del	DEL	ENST00000369817.2	37	c.115delA	CCDS14746.1																																																																																				0.512	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		7	644						7	644	---	---	---	---	-	153627860	A	-	153627860	7	5	41	1	0	1	0	1	0	0	0	0	13604	247	9	0	125	0	RPL10	23	153627860	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	2810718	153627860	1642700	46	4869											
CSMD2	114784	broad.mit.edu	37	chr1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcagccggcctctgcttCgatggtccagatgcagttga	14	11	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373380.1	-	4	866	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				GCCTCTGCTTCGATGGTCCAG	0.562																																						ENST00000373381.4																			0				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						c.(4027-4029)Gaa>Aaa		CUB and Sushi multiple domains 2							162	152	155					1																	34158555		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34158555C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.646G>A	1.37:g.34158555C>T	ENSP00000362478:p.Glu216Lys					CSMD2_ENST00000373380.1_Missense_Mutation_p.E216K|CSMD2_ENST00000373388.2_5'UTR	p.E1343K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			25	4203	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1303			CUB 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4027G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.880781	0.97062	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17854	2.25;2.25	5.52	5.52	0.82312	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.45744	1.44	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.993	P;D;D	0.67900	0.87;0.954;0.921	T	0.02075	-1.1218	10	0.56958	D	0.05	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	216;1303;1343	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1343;216	ENSP00000362479:E1343K;ENSP00000362478:E216K	ENSP00000241312:E1303K	E	-	1	0	CSMD2	33931142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAA		0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		142	778	0	0	0	1	0	142	778					T	34158555	C	T	34158555	3	4	42	1	0	0	0	0	1	0	0	0	3956	893	31	1	6736	1	CSMD2	1	34158555	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		34158555	215092066	1	4870											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	426						7	426	---	---	---	---	-	44447009	AGC	-	44447007	7	5	42	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-F2-A44G-01A-11D-A26I-08	10288452	44447007	204803614	2	4871											
DPYD	1806	broad.mit.edu	37	chr1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcactacatcatacgGcagccggaactgaggaattt	8	9	2	1	rs267598789		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	237					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACATCATACGGCAGCCGGAAC	0.363																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(709-711)Ccg>Tcg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						87	88	88					1																	98157326		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98157326G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.709C>T	1.37:g.98157326G>A	ENSP00000359211:p.Pro237Ser					DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.P237S	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	7	809	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	237					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.709C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834760	0.91036	.	.	ENSG00000188641	ENST00000370192	D	0.94966	-3.57	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	L	0.48986	1.54	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.96387	0.9286	10	0.87932	D	0	-9.0732	18.7184	0.91685	0.0:0.0:1.0:0.0	.	237	Q12882	DPYD_HUMAN	S	237	ENSP00000359211:P237S	ENSP00000359211:P237S	P	-	1	0	DPYD	97929914	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.564000	0.82326	2.497000	0.84241	0.460000	0.39030	CCG		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		62	281	0	0	0	1	0	62	281					A	98157326	G	A	98157326	3	1	42	1	0	0	0	0	1	0	0	0	4761	1203	42	2	2436	2	DPYD	1	98157326	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	53710319	98157326	151093295	3	4872											
SETDB1	9869	broad.mit.edu	37	chr1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaagccagcttgcccagtCacggaagcaggtagccaaaa	12	11	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	483					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCCAGTCACGGAAGCAG	0.453																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1447-1449)tCa>tGa		SET domain, bifurcated 1							107	113	111					1																	150921869		2203	4300	6503	SO:0001587	stop_gained	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150921869C>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1448C>G	1.37:g.150921869C>G	ENSP00000271640:p.Ser483*					SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*|SETDB1_ENST00000459773.1_Intron	p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1638	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		483					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Nonsense_Mutation	SNP	ENST00000271640.5	37	c.1448C>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224540	0.95139	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	4.86	3.9	0.45041	.	0.403570	0.27604	N	0.018633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7618	0.51908	0.136:0.7327:0.1313:0.0	.	.	.	.	X	483;484;483;483	.	ENSP00000271640:S483X	S	+	2	0	SETDB1	149188493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.799000	0.38824	2.528000	0.85240	0.561000	0.74099	TCA		0.453	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			74	475	0	0	0	1	0	74	475					G	150921869	C	G	150921869	4	3	42	1	0	0	0	0	0	1	0	0	14188	838	29	5	1490	5	SETDB1	1	150921869	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	52764543	150921869	98328752	4	4873											
LMX1A	4009	broad.mit.edu	37	chr1	165177322	165177322	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctcagcctctgggtgttCtgctgatcttgctgctgctg	13	11	4	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	LMX1A_ENST00000294816.2_Silent_p.Q265Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	265	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGGGTGTTCTGCTGATCTT	0.572																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(793-795)caG>caA		LIM homeobox transcription factor 1, alpha							85	60	68					1																	165177322		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177322C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.795G>A	1.37:g.165177322C>T						LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR	p.Q265Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1177	-	all_hematologic(923;0.248)		265			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.795G>A	CCDS1247.1																																																																																				0.572	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		27	168	0	0	0	1	0	27	168					T	165177322	C	T	165177322	2	4	42	1	0	0	0	0	0	0	0	1	8894	912	32	2		2	LMX1A	1	165177322	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	14255453	165177322	84073299	5	4874											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		8	1168						8	1168	---	---	---	---	-	183616828	TTC	-	183616826	7	5	42	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	18439504	183616826	65633795	6	4875											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:207642044delC	ENST00000367058.3	+	3	807	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gtfs		complement component (3d/Epstein Barr virus) receptor 2							243	225	231					1																	207642044		2203	4300	6503	SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642044delC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.618delC	1.37:g.207642044delC	ENSP00000356025:p.Val206fs					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	p.V206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	c.618delC	CCDS1478.1																																																																																				0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		7	1075						7	1075	---	---	---	---	-	207642044	C	-	207642044	7	5	42	1	0	1	0	1	0	0	0	0	3851	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-F2-A44G-01A-11D-A26I-08	24025218	207642044	41608577	7	4876											
MALL	7851	broad.mit.edu	37	chr2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgagaaacgaggtgagcGagacatacatcacccatcct	10	10	1	4			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000272462.2	-	2	961	c.188C>T	c.(187-189)tCg>tTg	p.S63L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	63	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGTGAGCGAGACATACAT	0.448																																						ENST00000272462.2																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9						c.(187-189)tCg>tTg		mal, T-cell differentiation protein-like							172	152	159					2																	110849265		2202	4298	6500	SO:0001583	missense	7851				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding	g.chr2:110849265G>A	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.188C>T	2.37:g.110849265G>A	ENSP00000272462:p.Ser63Leu					MALL_ENST00000427178.1_Intron	p.S63L	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN		Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)	2	961	-			63			MARVEL.		B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	c.188C>T	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645261	0.47258	.	.	ENSG00000144063	ENST00000272462	T	0.27557	1.66	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.49916	D	0.000125	T	0.60586	0.2280	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69892	-0.5022	10	0.66056	D	0.02	-15.224	12.7991	0.57576	0.0:0.0:1.0:0.0	.	63	Q13021	MALL_HUMAN	L	63	ENSP00000272462:S63L	ENSP00000272462:S63L	S	-	2	0	MALL	110206554	1.000000	0.71417	0.887000	0.34795	0.156000	0.22039	5.864000	0.69575	1.664000	0.50801	0.313000	0.20887	TCG		0.448	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		34	468	0	0	0	1	0	34	468					A	110849265	G	A	110849265	3	1	42	1	0	0	0	0	1	0	0	0	9242	1059	37	1	285	1	MALL	2	110849265	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		110849265	132350108	8	4877											
MARCH7	64844	broad.mit.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(877-879)acfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160604680delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs					MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	p.T293fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1001	+			293			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.879delT	CCDS2210.1																																																																																				0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		10	362						10	362	---	---	---	---	-	160604680	T	-	160604680	7	5	42	1	0	1	0	1	0	0	0	0	9347	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	49755415	160604680	82594693	9	4878											
CYP27A1	1593	broad.mit.edu	37	chr2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtgtggtgccagccGggcaagtgccccagcacaag	17	11	0	0	rs369969903		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	372					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGTGCCAGCCGGGCAAGTGCC	0.587																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(1114-1116)Ggg>Cgg		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						81	69	73					2																	219678840		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219678840G>C	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1114G>C	2.37:g.219678840G>C	ENSP00000258415:p.Gly372Arg						p.G372R	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	6	1541	+		Renal(207;0.0474)	372					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1114G>C	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905864	0.52333	.	.	ENSG00000135929	ENST00000258415	T	0.70282	-0.47	5.76	5.76	0.90799	.	0.048229	0.85682	D	0.000000	T	0.65831	0.2729	L	0.57130	1.785	0.43982	D	0.996674	P	0.38167	0.621	B	0.38755	0.281	T	0.65117	-0.6246	10	0.36615	T	0.2	-35.6709	9.8121	0.40828	0.0748:0.1409:0.7843:0.0	.	372	Q02318	CP27A_HUMAN	R	372	ENSP00000258415:G372R	ENSP00000258415:G372R	G	+	1	0	CYP27A1	219387084	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	4.040000	0.57333	2.706000	0.92434	0.655000	0.94253	GGG		0.587	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			45	308	0	0	0	1	0	45	308					C	219678840	G	C	219678840	3	2	42	1	0	0	0	0	1	0	0	0	4169	1116	39	5	1136	5	CYP27A1	2	219678840	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	59074160	219678840	23520533	10	4879											
NGEF	25791	broad.mit.edu	37	chr2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-													ctctctggtgggctggccggCtcctcctcctcctcctcttc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)gagdel	p.E226del	NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(676-678)del		neuronal guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785144_233785146delCTC	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.676_678delGAG	2.37:g.233785153_233785155delCTC	ENSP00000264051:p.Glu226del					NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del	p.E226del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	954_956	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	226			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	In_Frame_Del	DEL	ENST00000264051.3	37	c.676_678delGAG	CCDS2500.1																																																																																				0.586	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	468						7	468	---	---	---	---	-	233785146	CTC	-	233785144	7	5	42	1	0	1	0	1	0	0	0	0	10436	796	28	0	1498	0	NGEF	2	233785144	In_Frame_Del	DEL	CTC	TCGA-F2-A44G-01A-11D-A26I-08	14106304	233785144	9414229	11	4880											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A													agggcgcctctgagccgtcgGggttccggcagaagttctcc					rs200900272		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	153	0	0	0	1	0	6	153					A	49723596	G	A	49723596	1	1	42	0	1	0	0	0	0	0	0	0	9931	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		49723596	148298834	12	4881	32	2									
MST1	327	broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A													ctctgagccgtcggggttccGgcagaagttctcccgaaggt					rs199969873	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	153	0	0	0	1	0	6	153					A	49723603	G	A	49723603	1	1	42	0	1	0	0	0	0	0	0	0	9931	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	7	49723603	148298827	13	4882	32	2									
MYLK	4638	broad.mit.edu	37	chr3	123411658	123411658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtataagcctctgtcCtcaggcagtgccttctcgat	8	13	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000475616.1	-	16	3488	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000510775.1_5'UTR|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000360772.3_Silent_p.E1163E|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000359169.1_Silent_p.E1163E			Q15746	MYLK_HUMAN	myosin light chain kinase	1163	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCTGTCCTCAGGCAGTG	0.592																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3487-3489)gaG>gaA		myosin light chain kinase							95	75	82					3																	123411658		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123411658C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3489G>A	3.37:g.123411658C>T						MYLK_ENST00000475616.1_Silent_p.E1163E|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000360304.3_Silent_p.E1163E	p.E1163E			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	20	3867	-		Lung NSC(201;0.0496)	1163			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3489G>A	CCDS46896.1																																																																																				0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	333	0	0	0	1	0	13	333					T	123411658	C	T	123411658	2	4	42	1	0	0	0	0	0	0	0	1	10097	680	24	2		2	MYLK	3	123411658	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	73688055	123411658	74610772	14	4883											
NEK11	79858	broad.mit.edu	37	chr3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-													aatctttgttatttataggcAaaaaaggatccacctgcaga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:130881254delA	ENST00000510769.1	+	7	903	c.650delA	c.(649-651)caafs	p.Q217fs	NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000383366.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATTTATAGGCAAAAAAGGATC	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(964-966)cafs		NIMA-related kinase 11							143	167	158					3																	130881254		2203	4300	6503	SO:0001589	frameshift_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881254delA	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.650delA	3.37:g.130881254delA	ENSP00000421549:p.Gln217fs					NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs	p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1258	+			322						Frame_Shift_Del	DEL	ENST00000510769.1	37	c.965delA																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		8	1820						8	1820	---	---	---	---	-	130881254	A	-	130881254	7	5	42	1	0	1	0	1	0	0	0	0	10365	130	5	0	999	0	NEK11	3	130881254	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08	7469596	130881254	67141176	15	4884											
EVC	2121	broad.mit.edu	37	chr4	5809995	5809997	+	In_Frame_Del	DEL	CAG	CAG	-													agcagatgcgtctgcacgccCagcagcagcaggcaggagtc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:5809995_5809997delCAG	ENST00000264956.6	+	18	2813_2815	c.2629_2631delCAG	c.(2629-2631)cagdel	p.Q880del	EVC_ENST00000382674.2_In_Frame_Del_p.Q880del	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	880					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCTGCACGCCCAGCAGCAGCAGG	0.591																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2629-2631)del		Ellis van Creveld syndrome																																				SO:0001651	inframe_deletion	2121				muscle organ development	integral to membrane		g.chr4:5809995_5809997delCAG	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2629_2631delCAG	4.37:g.5810004_5810006delCAG	ENSP00000264956:p.Gln880del					EVC_ENST00000264956.6_In_Frame_Del_p.Q880del	p.Q880del			P57679	EVC_HUMAN			18	2813_2815	+		Myeloproliferative disorder(84;0.117)	880						In_Frame_Del	DEL	ENST00000264956.6	37	c.2629_2631delCAG	CCDS3383.1																																																																																				0.591	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			7	320						7	320	---	---	---	---	-	5809997	CAG	-	5809995	7	5	42	1	0	1	0	1	0	0	0	0	5303	595	21	0	2699	0	EVC	4	5809995	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08		5809995	185344281	16	4885											
EPHA5	2044	broad.mit.edu	37	chr4	66535410	66535410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgggggtgtcgccgccGccgcttgggggccgccggcg	21	13	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:66535410G>A	ENST00000273854.3	-	1	651	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EPHA5_ENST00000432638.2_Silent_p.G17G|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	17					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)			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						TGTCGCCGCCGCCGCTTgggg	0.756										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(49-51)ggC>ggT		EPH receptor A5							4	6	5					4																	66535410		1796	3676	5472	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.chr4:66535410G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.51C>T	4.37:g.66535410G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G	p.G17G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			1	651	-			17					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.51C>T	CCDS3513.1																																																																																				0.756	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	46	0	0	0	1	0	4	46					A	66535410	G	A	66535410	2	1	42	1	0	0	0	0	0	0	0	1	5188	1074	38	1		1	EPHA5	4	66535410	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	60725415	66535410	124618866	17	4886											
HELQ	113510	broad.mit.edu	37	chr4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttttcagatacagtcCaaatgttggtctctttgagc	7	7	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000295488.3	-	15	3014	c.2852G>A	c.(2851-2853)tGg>tAg	p.W951*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	951					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATACAGTCCAAATGTTGGT	0.358								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2851-2853)tGg>tAg	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							94	93	93					4																	84342813		2203	4300	6503	SO:0001587	stop_gained	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84342813C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2852G>A	4.37:g.84342813C>T	ENSP00000295488:p.Trp951*					HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	p.W951*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			15	3014	-			951					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	37	c.2852G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	42	9.277624	0.99122	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.26	5.26	0.73747	.	0.118507	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.6571	17.0371	0.86479	0.0:1.0:0.0:0.0	.	.	.	.	X	951;884	.	ENSP00000295488:W951X	W	-	2	0	HELQ	84561837	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.116000	0.77119	2.458000	0.83093	0.591000	0.81541	TGG		0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		36	220	0	0	0	1	0	36	220					T	84342813	C	T	84342813	4	4	42	1	0	0	0	0	0	1	0	0	7077	595	21	2	469	2	HELQ	4	84342813	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	17807403	84342813	106811463	18	4887											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	575						7	575	---	---	---	---	-	106863684	CCA	-	106863682	7	5	42	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-F2-A44G-01A-11D-A26I-08	22520869	106863682	84290594	19	4888											
METTL14	57721	broad.mit.edu	37	chr4	119609076	119609076	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattttgtcttttctcAgttgggagctgaaagtgccg	11	7	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.5	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MET14_HUMAN	methyltransferase like 14						mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTCTTTTCTCAGTTGGGAGCT	0.383																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.e2-1		methyltransferase like 14							94	92	93					4																	119609076		2203	4300	6503	SO:0001630	splice_region_variant	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119609076A>G	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.67-1A>G	4.37:g.119609076A>G						METTL14_ENST00000506780.1_Splice_Site				Q9HCE5	MTL14_HUMAN			2	233	+								A6NIG1|Q969V2	Splice_Site	SNP	ENST00000388822.5	37		CCDS34053.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994997	0.54041	.	.	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9182	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL14	119828524	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	8.543000	0.90651	2.229000	0.72834	0.523000	0.50628	.		0.383	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961	Intron	48	220	0	0	0	1	0	48	220					G	119609076	A	G	119609076	5	3	42	1	0	0	0	0	0	0	1	0	9539	202	7	4	71	4	METTL14	4	119609076	Splice_Site	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	12745394	119609076	71545200	20	4889											
METTL14	57721	broad.mit.edu	37	chr4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggaactgtgaagcGtagcacagacggggacttca	13	8	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.5	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MET14_HUMAN	methyltransferase like 14	298					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.R298P(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACTGTGAAGCGTAGCACAGAC	0.373																																						ENST00000388822.4																			3	Substitution - Missense(3)	p.R298P(3)	endometrium(3)	endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(892-894)cGt>cAt		methyltransferase like 14							166	162	163					4																	119626803		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119626803G>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.893G>A	4.37:g.119626803G>A	ENSP00000373474:p.Arg298His					METTL14_ENST00000506780.1_Missense_Mutation_p.R260H	p.R298H			Q9HCE5	MTL14_HUMAN			10	1060	+			298					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.893G>A	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942676	0.92526	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50001	0.76;0.76	5.82	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83365	0.0004	10	0.72032	D	0.01	-3.4786	15.0159	0.71584	0.0684:0.0:0.9316:0.0	.	260;298	D6RBL4;Q9HCE5	.;MTL14_HUMAN	H	298;260	ENSP00000373474:R298H;ENSP00000424111:R260H	ENSP00000373474:R298H	R	+	2	0	METTL14	119846251	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.229000	0.95273	1.472000	0.48140	0.585000	0.79938	CGT		0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		82	596	0	0	0	1	0	82	596					A	119626803	G	A	119626803	3	1	42	1	0	0	0	0	1	0	0	0	9539	1145	40	1	931	1	METTL14	4	119626803	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	17727	119626803	71527473	21	4890											
DDX60	55601	broad.mit.edu	37	chr4	169229302	169229302	+	Frame_Shift_Del	DEL	A	A	-													gtaatgaatccccatcaatcAaaaaaaattcagattcaaca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169229302delA	ENST00000393743.3	-	4	410	c.119delT	c.(118-120)ttgfs	p.L40fs	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	40					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCCATCAATCAAAAAAAATTC	0.308																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(118-120)tgfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							47	49	48					4																	169229302		2203	4300	6503	SO:0001589	frameshift_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169229302delA	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.119delT	4.37:g.169229302delA	ENSP00000377344:p.Leu40fs						p.L40fs	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	4	410	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	40					Q6PK35|Q9NVE3	Frame_Shift_Del	DEL	ENST00000393743.3	37	c.119delT	CCDS34097.1																																																																																				0.308	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		7	207						7	207	---	---	---	---	-	169229302	A	-	169229302	7	5	42	1	0	1	0	1	0	0	0	0	4389	131	5	0	5159	0	DDX60	4	169229302	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08	49602499	169229302	21924974	22	4891											
DDX60L	91351	broad.mit.edu	37	chr4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagccacacagaggcaaCgcagtctgcagaaatcttcc	9	12	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458																																						ENST00000511577.1																			1	Substitution - Missense(1)	p.R297L(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(889-891)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							88	92	90					4																	169374381		2003	4176	6179	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169374381C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.890G>A	4.37:g.169374381C>T	ENSP00000422423:p.Arg297His					DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H|DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H	p.R297H			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	8	1137	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	297					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.890G>A		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT		0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		33	248	0	0	0	1	0	33	248					T	169374381	C	T	169374381	3	4	42	1	0	0	0	0	1	0	0	0	4390	536	19	1	4354	1	DDX60L	4	169374381	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	145079	169374381	21779895	23	4892											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	278						7	278	---	---	---	---	-	1879671	CCT	-	1879669	7	5	42	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-F2-A44G-01A-11D-A26I-08		1879669	179035591	24	4893											
ANKH	56172	broad.mit.edu	37	chr5	14756009	14756009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgaggcacatcccaccagGaaactgtatttgtgttttaa	8	8	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(475-477)ttC>ttT		ANKH inorganic pyrophosphate transport regulator							153	134	141					5																	14756009		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14756009G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.477C>T	5.37:g.14756009G>A							p.F159F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			4	807	-			159					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.477C>T	CCDS3885.1																																																																																				0.453	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		51	258	0	0	0	1	0	51	258					A	14756009	G	A	14756009	2	1	42	1	0	0	0	0	0	0	0	1	627	1165	41	2		2	ANKH	5	14756009	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	12876340	14756009	166159251	25	4894											
RAD17	5884	broad.mit.edu	37	chr5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A													caaacctcagtggtttctaaTaaataaaaaggtaaaaaaaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1594-1596)aTa>aAa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							25	23	24					5																	68692363		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692363T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1595T>A	5.37:g.68692363T>A	ENSP00000426191:p.Ile532Lys					RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K	p.I532K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2273	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	532			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1595T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079857	0.76528	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.24	5.24	0.73138	.	0.196705	0.53938	D	0.000058	T	0.42653	0.1212	L	0.56769	1.78	0.58432	D	0.999994	D;D;D	0.69078	0.991;0.989;0.997	D;P;D	0.67382	0.951;0.888;0.918	T	0.35943	-0.9768	10	0.72032	D	0.01	-25.9714	9.0349	0.36282	0.0:0.0847:0.0:0.9153	.	532;435;521	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	521;532;521;356;521;521;521;435;356;532;140	ENSP00000355226:I521K;ENSP00000426191:I532K;ENSP00000346938:I521K;ENSP00000427743:I356K;ENSP00000346271:I521K;ENSP00000311227:I521K;ENSP00000303134:I521K;ENSP00000282891:I435K;ENSP00000350725:I356K;ENSP00000370151:I532K;ENSP00000425005:I140K	ENSP00000282891:I435K	I	+	2	0	RAD17	68728119	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.213000	0.65230	2.098000	0.63641	0.455000	0.32223	ATA		0.343	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		10	83	0	0	0	1	0	10	83					A	68692363	T	A	68692363	3	1	42	1	0	0	0	0	1	0	0	0	13029	1406	49	5	1658	5	RAD17	5	68692363	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	53936354	68692363	112222897	26	4895	33	2									
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A													cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa					rs200909538	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	78	0	0	0	1	0	11	78					A	68692367	T	A	68692367	3	1	42	1	0	0	0	0	1	0	0	0	13029	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	4	68692367	112222893	27	4896	33	2									
HEXB	3074	broad.mit.edu	37	chr5	73981215	73981215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaggtggcggaggcggctCgggccccgagcgtctcggcc	19	14	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:73981215C>T	ENST00000261416.7	+	1	247	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	44					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAGGCGGCTCGGGCCCCGAG	0.711																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000261416.7																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(130-132)Cgg>Tgg		hexosaminidase B (beta polypeptide)							6	8	7					5																	73981215		2059	4036	6095	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:73981215C>T	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.130C>T	5.37:g.73981215C>T	ENSP00000261416:p.Arg44Trp					HEXB_ENST00000511181.1_Intron	p.R44W	NM_000521.3	NP_000512.1	P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	1	247	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	44						Missense_Mutation	SNP	ENST00000261416.7	37	c.130C>T	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665782	0.29604	.	.	ENSG00000049860	ENST00000261416	D	0.96940	-4.18	1.75	1.75	0.24633	.	0.771240	0.10531	U	0.663835	D	0.85553	0.5723	N	0.08118	0	0.09310	N	0.999993	P	0.45428	0.858	B	0.18561	0.022	T	0.81017	-0.1123	10	0.66056	D	0.02	6.7032	6.0566	0.19815	0.0:0.6722:0.3277:0.0	.	44	P07686	HEXB_HUMAN	W	44	ENSP00000261416:R44W	ENSP00000261416:R44W	R	+	1	2	HEXB	74016971	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	0.036000	0.13819	0.982000	0.38575	0.313000	0.20887	CGG		0.711	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		14	79	0	0	0	1	0	14	79					T	73981215	C	T	73981215	3	4	42	1	0	0	0	0	1	0	0	0	7104	875	31	1	132	1	HEXB	5	73981215	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	5288848	73981215	106934045	28	4897											
VCAN	1462	broad.mit.edu	37	chr5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaatgtttatattattgAggtcagagaaaataagacag	8	3	1	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1328	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)			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)	TATATTATTGAGGTCAGAGAA	0.403																																						ENST00000265077.3																			0				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						c.(3982-3984)gAg>gGg		versican							44	45	45					5																	82818108		2154	4128	6282	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.chr5:82818108A>G	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.3983A>G	5.37:g.82818108A>G	ENSP00000265077:p.Glu1328Gly					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G	p.E1328G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4548	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1328			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3983A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524357	0.44969	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86865	-2.1;-2.15;-2.18	5.61	3.08	0.35506	.	0.311300	0.27735	N	0.018078	D	0.90937	0.7151	M	0.71581	2.175	0.27726	N	0.944977	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.922	D	0.84462	0.0594	10	0.87932	D	0	.	9.5811	0.39488	0.7423:0.1873:0.0705:0.0	.	1328;1328	P13611-3;P13611	.;CSPG2_HUMAN	G	1328;1328;1280	ENSP00000265077:E1328G;ENSP00000342768:E1328G;ENSP00000425959:E1280G	ENSP00000265077:E1328G	E	+	2	0	VCAN	82853864	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.791000	0.38744	0.967000	0.38186	-0.256000	0.11100	GAG		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		63	387	0	0	0	1	0	63	387					G	82818108	A	G	82818108	3	3	42	1	0	0	0	0	1	0	0	0	17192	304	11	4	4005	4	VCAN	5	82818108	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	8836893	82818108	98097152	29	4898											
TRPC7	57113	broad.mit.edu	37	chr5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgagacattgtgcagcGtgtcgtcctgcacgtgctgg	15	10	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					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)			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)			ATTGTGCAGCGTGTCGTCCTG	0.602																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1531-1533)aCg>aTg		transient receptor potential cation channel, subfamily C, member 7							55	58	57					5																	135587384		2159	4258	6417	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135587384G>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.1532C>T	5.37:g.135587384G>A	ENSP00000426070:p.Thr511Met					TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M|TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M	p.T511M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1814	-			511					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1532C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730593	0.30684	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.08;-1.28;-1.15	5.21	4.28	0.50868	Ion transport (1);	0.529059	0.20685	N	0.087579	T	0.81317	0.4797	L	0.39898	1.24	0.33214	D	0.553753	D;P;P;P	0.61697	0.99;0.814;0.846;0.792	P;B;P;P	0.59595	0.86;0.311;0.46;0.505	T	0.81856	-0.0740	10	0.32370	T	0.25	-11.4232	11.0783	0.48045	0.0:0.0:0.6422:0.3578	.	395;450;456;511	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	450;395;511;511	ENSP00000347312:T450M;ENSP00000441628:T395M;ENSP00000426070:T511M	ENSP00000265193:T511M	T	-	2	0	TRPC7	135615283	1.000000	0.71417	0.980000	0.43619	0.056000	0.15407	4.339000	0.59322	2.720000	0.93068	0.650000	0.86243	ACG		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		27	160	0	0	0	1	0	27	160					A	135587384	G	A	135587384	3	1	42	1	0	0	0	0	1	0	0	0	16637	1145	40	1	1084	1	TRPC7	5	135587384	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	52769276	135587384	45327876	30	4899											
PCDHB11	56125	broad.mit.edu	37	chr5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtctacttggtggtggCgttggcctcggtgtcttcgc	14	12	2	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	693					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.A693V(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)			TTGGTGGTGGCGTTGGCCTCG	0.692																																						ENST00000354757.3																			1	Substitution - Missense(1)	p.A693V(1)	large_intestine(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						c.(2077-2079)gCg>gTg									85	86	85					5																	140581425		2203	4295	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581425C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2078C>T	5.37:g.140581425C>T	ENSP00000346802:p.Ala693Val					PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	p.A693V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2078	+			693					B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2078C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514543	0.85389	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.25250	1.81;1.81	2.64	2.64	0.31445	.	.	.	.	.	T	0.63498	0.2516	H	0.98559	4.265	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.59005	-0.7535	9	0.87932	D	0	.	10.5162	0.44892	0.0:0.8009:0.1991:0.0	.	693	Q9Y5F2	PCDBB_HUMAN	V	328;693	ENSP00000440344:A328V;ENSP00000346802:A693V	ENSP00000346802:A693V	A	+	2	0	PCDHB11	140561609	0.083000	0.21467	0.009000	0.14445	0.760000	0.43138	3.624000	0.54231	1.481000	0.48307	0.449000	0.29647	GCG		0.692	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		160	940	0	0	0	1	0	160	940					T	140581425	C	T	140581425	3	4	42	1	0	0	0	0	1	0	0	0	11578	768	27	1	2080	1	PCDHB11	5	140581425	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	4994041	140581425	40333835	31	4900											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772668	140772668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatcgggaggagctctgCgctcagagcccgcggtgtct	15	11	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AGGAGCTCTGCGCTCAGAGCC	0.498																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(286-288)tgC>tgT									30	37	35					5																	140772668		2159	4287	6446	SO:0001819	synonymous_variant	0							g.chr5:140772668C>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.288C>T	5.37:g.140772668C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.C96C	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	288	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.288C>T	CCDS47291.1																																																																																				0.498	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		13	370	0	0	0	1	0	13	370					T	140772668	C	T	140772668	2	4	42	1	0	0	0	0	0	0	0	1	11602	776	27	1		1	PCDHGA8	5	140772668	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	191243	140772668	40142592	32	4901											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	865						7	865	---	---	---	---	-	176301304	CAC	-	176301302	7	5	42	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-F2-A44G-01A-11D-A26I-08	35528634	176301302	4613958	33	4902											
DNAH8	1769	broad.mit.edu	37	chr6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-													ttagatacaatgctccatttAaaaaaaatatccagaattgg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:38816440delA	ENST00000359357.3	+	35	4665	c.4411delA	c.(4411-4413)aaafs	p.K1472fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1472					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTCCATTTAAAAAAAATAT	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4411-4413)aafs		dynein, axonemal, heavy chain 8							54	56	56					6																	38816440		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38816440delA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4411delA	6.37:g.38816440delA	ENSP00000352312:p.Lys1472fs					DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs	p.K1472fs							35	4665	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.4411delA																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	312						7	312	---	---	---	---	-	38816440	A	-	38816440	7	5	42	1	0	1	0	1	0	0	0	0	4623	363	13	0	4541	0	DNAH8	6	38816440	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08		38816440	132298627	34	4903											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	265	0	0	0	1	0	8	265					A	45390463	G	A	45390463	2	1	42	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	6574023	45390463	125724604	35	4904	34	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	251	0	0	0	1	0	8	251					G	45390466	A	G	45390466	2	3	42	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	3	45390466	125724601	36	4905	34	2									
COL12A1	1303	broad.mit.edu	37	chr6	75899298	75899298	+	Frame_Shift_Del	DEL	T	T	-													gttgccacctttatatggaaTtttttttattgcagcaagaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:75899298delT	ENST00000322507.8	-	6	937	c.628delA	c.(628-630)attfs	p.I210fs	COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	210	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTATATGGAATTTTTTTTATT	0.323																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(628-630)ttfs		collagen, type XII, alpha 1							122	114	116					6																	75899298		1812	4072	5884	SO:0001589	frameshift_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75899298delT	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.628delA	6.37:g.75899298delT	ENSP00000325146:p.Ile210fs					COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs	p.I210fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			6	937	-			210			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Del	DEL	ENST00000322507.8	37	c.628delA	CCDS43482.1																																																																																				0.323	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		9	961						9	961	---	---	---	---	-	75899298	T	-	75899298	7	5	42	1	0	1	0	1	0	0	0	0	3678	1493	52	0	8807	0	COL12A1	6	75899298	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	30508832	75899298	95215769	37	4906											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-													ttataataataatagtaaggAtcatcatcatcatcagaggt					rs561556028		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.36	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		10	785						10	785	---	---	---	---	-	146264836	ATC	-	146264834	7	5	42	1	0	1	0	1	0	0	0	0	14341	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Del	DEL	ATC	TCGA-F2-A44G-01A-11D-A26I-08	70365536	146264834	24850233	38	4907											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		11	351	0	0	0	1	0	11	351					A	170871043	G	A	170871043	2	1	42	1	0	0	0	0	0	0	0	1	15696	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	24606209	170871043	244024	39	4908											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-													cctgaacttcctggtgctttTtcttcttcttctttttcttt					rs561305387	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433														10	0.00199681	0.0076	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-846)aaa>aa		TWIST neighbor				24,4238		4,16,2111						-2.7	0.6			252	11,8239		5,1,4119	no	coding	TWISTNB	NM_001002926.1		9,17,6230	A1A1,A1R,RR		0.1333,0.5631,0.2797				35,12477				SO:0001651	inframe_deletion	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738111_19738113delTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843_845delGAA	7.37:g.19738120_19738122delTTC	ENSP00000222567:p.Lys283del						p.KK281del	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913_915	-			281			Lys-rich.		A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	c.843_845delGAA	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			9	3309						9	3309	---	---	---	---	-	19738113	TTC	-	19738111	7	5	42	1	0	1	0	1	0	0	0	0	16838	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08		19738111	139400552	40	4909											
ZNF716	441234	broad.mit.edu	37	chr7	57528950	57528950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttactaaacataagagAattcatactggagagaaacc	6	9	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:57528950A>G	ENST00000420713.1	+	4	895	c.783A>G	c.(781-783)agA>agG	p.R261R		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACATAAGAGAATTCATACTG	0.393																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(781-783)agA>agG		zinc finger protein 716							31	32	31					7																	57528950		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57528950A>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.783A>G	7.37:g.57528950A>G							p.R261R	NM_001159279.1	NP_001152751.1					4	895	+									Silent	SNP	ENST00000420713.1	37	c.783A>G	CCDS55112.1																																																																																				0.393	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		19	142	0	0	0	1	0	19	142					G	57528950	A	G	57528950	2	3	42	1	0	0	0	0	0	0	0	1	18172	243	9	4		4	ZNF716	7	57528950	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	37790839	57528950	101609713	41	4910											
ELN	2006	broad.mit.edu	37	chr7	73462847	73462849	+	In_Frame_Del	DEL	GCA	GCA	-													ccccaggggttggcccccagGcagcagcagcagcggcagct					rs140742644		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73462847_73462849delGCA	ENST00000252034.7	+	15	1159_1161	c.760_762delGCA	c.(760-762)gcadel	p.A260del	ELN_ENST00000414324.1_In_Frame_Del_p.A255del|ELN_ENST00000380576.5_In_Frame_Del_p.A260del|ELN_ENST00000380584.4_In_Frame_Del_p.A246del|ELN_ENST00000380553.4_In_Frame_Del_p.A143del|ELN_ENST00000320399.6_In_Frame_Del_p.A260del|ELN_ENST00000445912.1_In_Frame_Del_p.A260del|ELN_ENST00000358929.4_In_Frame_Del_p.A260del|ELN_ENST00000380562.4_In_Frame_Del_p.A260del|ELN_ENST00000320492.7_In_Frame_Del_p.A224del|ELN_ENST00000380575.4_In_Frame_Del_p.A250del|ELN_ENST00000429192.1_In_Frame_Del_p.A265del|ELN_ENST00000357036.5_In_Frame_Del_p.A265del|ELN_ENST00000458204.1_In_Frame_Del_p.A250del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	260	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCCCCCAGgcagcagcagcag	0.621			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(760-762)del		elastin	Rofecoxib(DB00533)																																			SO:0001651	inframe_deletion	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73462847_73462849delGCA		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.760_762delGCA	7.37:g.73462856_73462858delGCA	ENSP00000252034:p.Ala260del					ELN_ENST00000380584.4_In_Frame_Del_p.A246del|ELN_ENST00000357036.5_In_Frame_Del_p.A265del|ELN_ENST00000320399.6_In_Frame_Del_p.A260del|ELN_ENST00000380576.5_In_Frame_Del_p.A260del|ELN_ENST00000380575.4_In_Frame_Del_p.A250del|ELN_ENST00000320492.7_In_Frame_Del_p.A224del|ELN_ENST00000429192.1_In_Frame_Del_p.A265del|ELN_ENST00000358929.4_In_Frame_Del_p.A260del|ELN_ENST00000445912.1_In_Frame_Del_p.A260del|ELN_ENST00000380553.4_In_Frame_Del_p.A143del|ELN_ENST00000414324.1_In_Frame_Del_p.A255del|ELN_ENST00000458204.1_In_Frame_Del_p.A250del|ELN_ENST00000380562.4_In_Frame_Del_p.A260del	p.A260del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			15	1159_1161	+		Lung NSC(55;0.159)	260			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	c.760_762delGCA	CCDS5562.2																																																																																				0.621	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		7	779						7	779	---	---	---	---	-	73462849	GCA	-	73462847	7	5	42	1	0	1	0	1	0	0	0	0	5089	1203	42	0	833	0	ELN	7	73462847	In_Frame_Del	DEL	GCA	TCGA-F2-A44G-01A-11D-A26I-08	15933897	73462847	85675816	42	4911											
EIF4H	7458	broad.mit.edu	37	chr7	73609131	73609132	+	Frame_Shift_Ins	INS	-	-	C													ccaggcgaccggcgaacaggINScccccccatgggcagccgct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73609131_73609132insC	ENST00000265753.8	+	6	669_670	c.530_531insC	c.(529-534)ggccccfs	p.GP177fs	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.GP157fs	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	177					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CGGCGAACAGGCCCCCCCATGG	0.569																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(529-531)gccfs		eukaryotic translation initiation factor 4H																																				SO:0001589	frameshift_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609131_73609132insC		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.537dupC	7.37:g.73609138_73609138dupC	ENSP00000265753:p.Gly177fs					EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.A157fs	p.A177fs	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			6	669_670	+			177					A8K3R1|D3DXF6|D3DXF8	Frame_Shift_Ins	INS	ENST00000265753.8	37	c.530_531insC	CCDS5564.1																																																																																				0.569	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		8	702						8	702	---	---	---	---	C	73609132	-	C	73609131	7	5	42	1	0	1	1	0	0	0	0	0	5057	1203	42	0	552	0	EIF4H	7	73609131	Frame_Shift_Ins	INS	-	TCGA-F2-A44G-01A-11D-A26I-08	146284	73609131	85529532	43	4912											
TNPO3	23534	broad.mit.edu	37	chr7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-													gccacatctggtagggtataGggggggaggcaaaagcagca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:128610259delG	ENST00000265388.5	-	20	2684	c.2541delC	c.(2539-2541)cccfs	p.P847fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000393245.1_Frame_Shift_Del_p.P881fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2641-2643)ccfs		transportin 3							155	156	156					7																	128610259		2203	4300	6503	SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610259delG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2541delC	7.37:g.128610259delG	ENSP00000265388:p.Pro847fs					TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs	p.P881fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	3016	-			847					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Del	DEL	ENST00000265388.5	37	c.2643delC	CCDS5809.1																																																																																				0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		10	1345						10	1345	---	---	---	---	-	128610259	G	-	128610259	7	5	42	1	0	1	0	1	0	0	0	0	16389	987	35	0	242	0	TNPO3	7	128610259	Frame_Shift_Del	DEL	G	TCGA-F2-A44G-01A-11D-A26I-08	55001128	128610259	30528404	44	4913											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttctaggaagctttgtttCaaggcctgctggttctggtt	12	7	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463																																						ENST00000310018.2																			1	Substitution - Missense(1)	p.L117F(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(349-351)ttG>ttC		ATPase, H+ transporting, lysosomal V0 subunit a4							192	174	180					7																	138447711		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138447711C>G	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.351G>C	7.37:g.138447711C>G	ENSP00000308122:p.Leu117Phe					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR	p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			6	633	-			117					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.351G>C	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124827	0.77436	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91996	-2.95;-2.95;-2.95	5.21	3.41	0.39046	.	0.154984	0.36444	N	0.002582	D	0.96241	0.8774	M	0.92555	3.32	0.58432	D	0.99999	D	0.63880	0.993	D	0.65773	0.938	D	0.96063	0.9040	10	0.72032	D	0.01	-26.1136	11.3732	0.49713	0.0:0.8512:0.0:0.1488	.	117	Q9HBG4	VPP4_HUMAN	F	117	ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F	ENSP00000308122:L117F	L	-	3	2	ATP6V0A4	138098251	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.985000	0.40668	0.865000	0.35603	0.655000	0.94253	TTG		0.463	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		92	512	0	0	0	1	0	92	512					G	138447711	C	G	138447711	3	3	42	1	0	0	0	0	1	0	0	0	1171	825	29	5	2239	5	ATP6V0A4	7	138447711	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	9837452	138447711	20690952	45	4914											
ATG9B	285973	broad.mit.edu	37	chr7	150716447	150716447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctctgcccagggaacCgagctcagctcctcctgaaa	9	16	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000377974.2	-	6	1053	c.978G>A	c.(976-978)tcG>tcA	p.S326S	ATG9B_ENST00000605938.1_Silent_p.S326S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B	326					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGAACCGAGCTCAGCT	0.667																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(976-978)tcG>tcA		autophagy related 9B							16	18	18					7																	150716447		2035	4176	6211	SO:0001819	synonymous_variant	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150716447C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.978G>A	7.37:g.150716447C>T						ATG9B_ENST00000377974.2_Silent_p.S326S|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_5'UTR	p.S326S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1053	-	all_neural(206;0.219)		326					A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	37	c.978G>A																																																																																					0.667	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		14	133	0	0	0	1	0	14	133					T	150716447	C	T	150716447	2	4	42	1	0	0	0	0	0	0	0	1	1104	639	23	1		1	ATG9B	7	150716447	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	12268736	150716447	8422216	46	4915											
DLGAP2	9228	broad.mit.edu	37	chr8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccacccagtacagcgCggtgagaactgtacggaccc	10	17	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	816					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGTACAGCGCGGTGAGAACT	0.632																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2209-2211)gCg>gTg		discs, large (Drosophila) homolog-associated protein 2							46	54	51					8																	1626541		2014	4169	6183	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626541C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2210C>T	8.37:g.1626541C>T	ENSP00000400258:p.Ala737Val					DLGAP2_ENST00000524065.1_3'UTR	p.A737V	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2344	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	816					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2210C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172334|2.172334	0.38315|0.38315	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19938|.	2.11|.	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	0.094982|.	0.64402|.	N|.	0.000001|.	T|T	0.60157|0.60157	0.2247|0.2247	L|L	0.46614|0.46614	1.455|1.455	0.48696|0.48696	D|D	0.999694|0.999694	P;P|.	0.50943|.	0.94;0.894|.	B;P|.	0.46237|.	0.374;0.508|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|5	0.02654|.	T|.	1|.	-8.3498|-8.3498	13.6933|13.6933	0.62562|0.62562	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	802;816|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	768;737|740	ENSP00000400258:A737V|.	ENSP00000348366:A768V|.	A|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1613948|1613948	1.000000|1.000000	0.71417|0.71417	0.422000|0.422000	0.26621|0.26621	0.513000|0.513000	0.34164|0.34164	4.501000|4.501000	0.60393|0.60393	1.233000|1.233000	0.43693|0.43693	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		37	235	0	0	0	1	0	37	235					T	1626541	C	T	1626541	3	4	42	1	0	0	0	0	1	0	0	0	4576	768	27	1	2240	1	DLGAP2	8	1626541	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		1626541	144737481	47	4916											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1530						7	1530	---	---	---	---	-	105440214	T	-	105440214	7	5	42	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	103813673	105440214	40923808	48	4917											
ZFPM2	23414	broad.mit.edu	37	chr8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaggcttcctcaaatGggtgtgctgcgctgaagaaa	13	9	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1023					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCTCAAATGGGTGTGCTGC	0.433																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(3067-3069)Ggg>Agg		zinc finger protein, FOG family member 2							65	63	64					8																	106815377		1939	4133	6072	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815377G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3067G>A	8.37:g.106815377G>A	ENSP00000384179:p.Gly1023Arg					RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.G1023R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3317	+			1023					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3067G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774158	0.31411	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24350	1.86;2.36;2.36;3.56	5.96	5.96	0.96718	.	0.045750	0.85682	D	0.000000	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	P	0.43938	0.822	B	0.32211	0.142	T	0.04811	-1.0925	10	0.33141	T	0.24	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	1023	Q8WW38	FOG2_HUMAN	R	1023;891;891;754	ENSP00000384179:G1023R;ENSP00000430757:G891R;ENSP00000428720:G891R;ENSP00000367733:G754R	ENSP00000367733:G754R	G	+	1	0	ZFPM2	106884553	1.000000	0.71417	0.952000	0.39060	0.888000	0.51559	6.872000	0.75536	2.831000	0.97527	0.650000	0.86243	GGG		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			20	204	0	0	0	1	0	20	204					A	106815377	G	A	106815377	3	1	42	1	0	0	0	0	1	0	0	0	17711	1348	47	2	3097	2	ZFPM2	8	106815377	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	1375163	106815377	39548645	49	4918											
PKHD1L1	93035	broad.mit.edu	37	chr8	110539106	110539108	+	In_Frame_Del	DEL	GCA	GCA	-													agagtctgtctctagcagtgGcagcagcagcagcagcaaca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:110539106_110539108delGCA	ENST00000378402.5	+	77	12682_12684	c.12578_12580delGCA	c.(12577-12582)ggcagc>ggc	p.S4198del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4198	Poly-Ser.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTagcagtggcagcagcagcag	0.433										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(12577-12582)ggc>g		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1				94,3632		5,84,1774						-7.8	0			35	245,7595		13,219,3688	no	coding	PKHD1L1	NM_177531.4		18,303,5462	A1A1,A1R,RR		3.125,2.5228,2.931				339,11227				SO:0001651	inframe_deletion	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110539106_110539108delGCA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12578_12580delGCA	8.37:g.110539115_110539117delGCA	ENSP00000367655:p.Ser4198del	HNSCC(38;0.096)					p.GS4193del	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		77	12682_12684	+			4193			Poly-Ser.		Q567P2|Q9UF27	In_Frame_Del	DEL	ENST00000378402.5	37	c.12578_12580delGCA	CCDS47911.1																																																																																				0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	105						7	105	---	---	---	---	-	110539108	GCA	-	110539106	7	5	42	1	0	1	0	1	0	0	0	0	12014	1203	42	0	12884	0	PKHD1L1	8	110539106	In_Frame_Del	DEL	GCA	TCGA-F2-A44G-01A-11D-A26I-08	3723729	110539106	35824916	50	4919											
CDK20	23552	broad.mit.edu	37	chr9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggaattgacccagcagatCcaatgcctggggagagacgt	13	9	0	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000325303.8	-	7	1092	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	CDK20_ENST00000375883.3_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						CCCAGCAGATCCAATGCCTGG	0.597																																						ENST00000375883.3																			0				skin(1)	1						c.(724-726)Gat>Tat		cyclin-dependent kinase 20							206	185	192					9																	90584165		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584165C>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"Cyclin-dependent kinases"	21420	protein-coding gene	gene with protein product		610076	"cell cycle related kinase"	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.787G>T	9.37:g.90584165C>A	ENSP00000322343:p.Asp263Tyr					CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000325303.8_Missense_Mutation_p.D263Y	p.D242Y	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			6	1030	-			263			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.724G>T	CCDS35060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893182|1.893182	0.33442|0.33442	.|.	.|.	ENSG00000156345|ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871	T;T;T|T	0.55413|0.63744	0.52;0.52;0.52|-0.06	4.64|4.64	3.67|3.67	0.42095|0.42095	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.370436|.	0.29522|.	N|.	0.011907|.	T|T	0.51601|0.51601	0.1684|0.1684	.|.	.|.	.|.	0.37885|0.37885	D|D	0.930512|0.930512	P;D;P|B	0.59357|0.09022	0.856;0.985;0.774|0.002	P;D;P|B	0.66979|0.10450	0.646;0.948;0.832|0.005	T|T	0.58183|0.58183	-0.7681|-0.7681	9|8	0.87932|0.72032	D|D	0|0.01	-26.4582|-26.4582	9.746|9.746	0.40446|0.40446	0.0:0.7261:0.2739:0.0|0.0:0.7261:0.2739:0.0	.|.	255;242;263|200	A2A390;E7EQ88;Q8IZL9|Q8IZL9-2	.;.;CDK20_HUMAN|.	Y|C	242;255;263;242|200	ENSP00000365043:D242Y;ENSP00000338975:D255Y;ENSP00000322343:D263Y|ENSP00000365031:W200C	ENSP00000286878:D242Y|ENSP00000365031:W200C	D|W	-|-	1|3	0|0	CDK20|CDK20	89773985|89773985	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.112000|0.112000	0.19704|0.19704	1.072000|1.072000	0.30678|0.30678	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.597	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		130	808	1	0	1.6318e-82	1	1.95816e-82	130	808					A	90584165	C	A	90584165	3	1	42	1	0	0	0	0	1	0	0	0	3146	856	30	3	261	3	CDK20	9	90584165	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		90584165	50629266	51	4920											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.34	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		7	550						7	550	---	---	---	---	-	100455964	TTC	-	100455962	7	5	42	1	0	1	0	1	0	0	0	0	17494	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	9871797	100455962	40757469	52	4921											
GPR26	2849	broad.mit.edu	37	chr10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccagccgccgcgctcGccctgtcctggctcggcttc	10	21	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	143					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCGCGCTCGCCCTGTCCTG	0.711																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(427-429)Gcc>Acc		G protein-coupled receptor 26							11	12	12					10																	125426350		2185	4271	6456	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426350G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.427G>A	10.37:g.125426350G>A	ENSP00000284674:p.Ala143Thr						p.A143T	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	480	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	143					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.427G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870536	0.17322	.	.	ENSG00000154478	ENST00000284674	T	0.71579	-0.58	4.02	-0.719	0.11201	GPCR, rhodopsin-like superfamily (1);	0.365001	0.27764	N	0.017959	T	0.40815	0.1132	N	0.22421	0.69	0.27577	N	0.949701	P	0.42161	0.772	B	0.31495	0.131	T	0.39781	-0.9597	10	0.23302	T	0.38	-8.2856	3.0124	0.06048	0.0986:0.1142:0.2647:0.5225	.	143	Q8NDV2	GPR26_HUMAN	T	143	ENSP00000284674:A143T	ENSP00000284674:A143T	A	+	1	0	GPR26	125416340	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	4.445000	0.60007	0.030000	0.15379	-0.878000	0.02970	GCC		0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			20	117	0	0	0	1	0	20	117					A	125426350	G	A	125426350	3	1	42	1	0	0	0	0	1	0	0	0	6713	1087	38	1	429	1	GPR26	10	125426350	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		125426350	10108397	53	4922											
CPXM2	119587	broad.mit.edu	37	chr10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtcacccacgctgtcGtctcttctgcccccgcagct	11	17	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2257-2259)Cga>Tga		carboxypeptidase X (M14 family), member 2							52	55	54					10																	125506294		2203	4300	6503	SO:0001587	stop_gained	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506294G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2257C>T	10.37:g.125506294G>A	ENSP00000241305:p.Arg753*					CPXM2_ENST00000368854.3_Intron	p.R753*	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2411	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	753					B4E3Q2	Nonsense_Mutation	SNP	ENST00000241305.3	37	c.2257C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	CPXM2	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		73	463	0	0	0	1	0	73	463					A	125506294	G	A	125506294	4	1	42	1	0	0	0	0	0	1	0	0	3847	1153	40	1	17	1	CPXM2	10	125506294	Nonsense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	79944	125506294	10028453	54	4923											
OR51B5	282763	broad.mit.edu	37	chr11	5364521	5364521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagaggactcccagcacCgtgggcattgtggtcagggc	15	12	1	1	rs369884002		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	78			T -> K (in dbSNP:rs57273781).		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)			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)		CTCCCAGCACCGTGGGCATTG	0.537																																						ENST00000300773.2																			0				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						c.(232-234)acG>acA		olfactory receptor, family 51, subfamily B, member 5		C		0,4402		0,0,2201	43	45	44		234	-9.5	0	11		44	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	OR51B5	NM_001005567.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		78/313	5364521	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364521C>T	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.234G>A	11.37:g.5364521C>T						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.T78T	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	288	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	78		T -> K (in dbSNP:rs57273781).			B2RN59	Silent	SNP	ENST00000300773.2	37	c.234G>A	CCDS31378.1																																																																																				0.537	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		45	287	0	0	0	1	0	45	287					T	5364521	C	T	5364521	2	4	42	1	0	0	0	0	0	0	0	1	11133	639	23	1		1	OR51B5	11	5364521	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		5364521	129641995	55	4924											
C11orf66	220004	broad.mit.edu	37	chr11	61254528	61254528	+	Frame_Shift_Del	DEL	A	A	-													ttggccgggagactgtggggAaaaaggtgagacttgctaca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:61254528delA	ENST00000338608.2	+	10	1068	c.943delA	c.(943-945)aaafs	p.K316fs	PPP1R32_ENST00000432063.2_Frame_Shift_Del_p.K296fs|PPP1R32_ENST00000366212.4_5'Flank|PPP1R32_ENST00000538185.1_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	316							phosphatase binding (GO:0019902)										GACTGTGGGGAAAAAGGTGAG	0.577																																						ENST00000338608.2																			0											c.(943-945)aafs		protein phosphatase 1, regulatory subunit 32							166	166	166					11																	61254528		2202	4299	6501	SO:0001589	frameshift_variant	220004							g.chr11:61254528delA	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.943delA	11.37:g.61254528delA	ENSP00000344140:p.Lys316fs					PPP1R32_ENST00000432063.2_Frame_Shift_Del_p.K296fs	p.K316fs	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			10	1068	+			316					Q4G0P4|Q96M77	Frame_Shift_Del	DEL	ENST00000338608.2	37	c.943delA	CCDS8008.1																																																																																				0.577	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		9	1453						9	1453	---	---	---	---	-	61254528	A	-	61254528	7	5	42	1	0	1	0	1	0	0	0	0	1661	247	9	0	977	0	C11orf66	11	61254528	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08	55890007	61254528	73751988	56	4925											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	971						7	971	---	---	---	---	A	63149669	-	A	63149668	7	5	42	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-F2-A44G-01A-11D-A26I-08	1895140	63149668	71856848	57	4926											
RTN3	10313	broad.mit.edu	37	chr11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaagatctggttgacTccttgaaggttagttgtttc	12	5	1	4			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	957	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTGGTTGACTCCTTGAAGGT	0.413																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2869-2871)Tcc>Acc		reticulon 3							176	168	171					11																	63520109		2201	4298	6499	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.chr11:63520109T>A	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.2869T>A	11.37:g.63520109T>A	ENSP00000367050:p.Ser957Thr					RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T	p.S957T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			5	3023	+			957			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2869T>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019868	0.93462	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.997;0.998	D;D;D;D;D;D	0.85130	0.997;0.996;0.994;0.919;0.993;0.994	T	0.73467	-0.3973	10	0.87932	D	0	-10.1047	13.8015	0.63204	0.0:0.0:0.0:1.0	.	845;957;161;161;938;180	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	T	161;180;957;938;845;161	ENSP00000340903:S161T;ENSP00000348279:S180T;ENSP00000367050:S957T;ENSP00000344106:S938T;ENSP00000442733:S845T;ENSP00000440874:S161T	ENSP00000344106:S938T	S	+	1	0	RTN3	63276685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.825000	0.86693	2.149000	0.67028	0.374000	0.22700	TCC		0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		119	778	0	0	0	1	0	119	778					A	63520109	T	A	63520109	3	1	42	1	0	0	0	0	1	0	0	0	13777	1551	54	5	2887	5	RTN3	11	63520109	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	370441	63520109	71486407	58	4927											
MMP3	4314	broad.mit.edu	37	chr11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaatccctggaaagtcttCagctatttgcttgggaaagc	10	9	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	428					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GGAAAGTCTTCAGCTATTTGC	0.393																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1282-1284)Gaa>Taa		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						146	148	147					11																	102708080		2203	4299	6502	SO:0001587	stop_gained	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102708080C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1282G>T	11.37:g.102708080C>A	ENSP00000299855:p.Glu428*						p.E428*	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	9	1538	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	428			Hemopexin-like 3.		B2R8B8|Q3B7S0|Q6GRF8	Nonsense_Mutation	SNP	ENST00000299855.5	37	c.1282G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028856	0.35797	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.17	4.18	0.49190	.	1.143500	0.06851	N	0.797303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.2805	0.66208	0.0:0.9177:0.0:0.0823	.	.	.	.	X	428	.	ENSP00000299855:E428X	E	-	1	0	MMP3	102213290	0.000000	0.05858	0.892000	0.35008	0.436000	0.31835	-0.170000	0.09897	2.687000	0.91594	0.655000	0.94253	GAA		0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		51	460	1	0	6.4308e-24	1	7.33112e-24	51	460					A	102708080	C	A	102708080	4	1	42	1	0	0	0	0	0	1	0	0	9707	835	29	3	159	3	MMP3	11	102708080	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	39187971	102708080	32298436	59	4928											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		17	99	0	0	0	1	0	17	99					T	25398284	C	T	25398284	3	4	42	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		25398284	108453611	60	4929											
KRT76	51350	broad.mit.edu	37	chr12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaatcacttcctgaattcCcccaggaaagcccccagggc	7	16	1	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	154	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGAATTCCCCCAGGAAAG	0.577																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(460-462)Gga>Tga		keratin 76							116	137	130					12																	53170616		2203	4300	6503	SO:0001587	stop_gained	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170616C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.460G>T	12.37:g.53170616C>A	ENSP00000330101:p.Gly154*						p.G154*	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	513	-			154			Head.		B4DRR3|Q7Z795	Nonsense_Mutation	SNP	ENST00000332411.2	37	c.460G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017156	0.93404	.	.	ENSG00000185069	ENST00000332411	.	.	.	4.47	4.47	0.54385	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9243	0.70866	0.0:0.856:0.144:0.0	.	.	.	.	X	154	.	ENSP00000330101:G154X	G	-	1	0	KRT76	51456883	0.765000	0.28485	0.996000	0.52242	0.746000	0.42486	2.690000	0.47001	2.775000	0.95449	0.555000	0.69702	GGA		0.577	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		36	232	1	0	3.11337e-16	1	3.34835e-16	36	232					A	53170616	C	A	53170616	4	1	42	1	0	0	0	0	0	1	0	0	8519	632	22	3	1492	3	KRT76	12	53170616	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	27772332	53170616	80681279	61	4930											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	1490						7	1490	---	---	---	---	-	55615116	CTT	-	55615114	7	5	42	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-F2-A44G-01A-11D-A26I-08	2444498	55615114	78236781	62	4931											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	448						8	448	---	---	---	---	-	88329796	CGG	-	88329794	7	5	42	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-F2-A44G-01A-11D-A26I-08		88329794	26840084	63	4932											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacagggacagcaggccccGgctggccttgtgcagcaggc	15	13	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	269					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGGCCCCGGCTGGCCTTG	0.612																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(805-807)Cgg>Tgg		zinc finger, FYVE domain containing 26							34	37	36					14																	68274196		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274196G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.805C>T	14.37:g.68274196G>A	ENSP00000251119:p.Arg269Trp					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	943	-			269					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.805C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104323	0.20632	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29142	1.72;1.58	5.57	1.59	0.23543	.	0.928117	0.09227	N	0.831027	T	0.25938	0.0632	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.26744	-1.0094	10	0.37606	T	0.19	-3.9128	7.1516	0.25614	0.1304:0.0:0.6248:0.2448	.	269;269;269	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	269;248;269	ENSP00000251119:R269W;ENSP00000450603:R269W	ENSP00000251119:R269W	R	-	1	2	ZFYVE26	67343949	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	0.592000	0.23984	0.018000	0.15052	-0.424000	0.05967	CGG		0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		39	215	0	0	0	1	0	39	215					A	68274196	G	A	68274196	3	1	42	1	0	0	0	0	1	0	0	0	17721	1115	39	1	6966	1	ZFYVE26	14	68274196	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		68274196	39075344	64	4933											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	196						7	196	---	---	---	---	-	74205928	CTG	-	74205926	7	5	42	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-F2-A44G-01A-11D-A26I-08	5931730	74205926	33143614	65	4934											
AQR	9716	broad.mit.edu	37	chr15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctatctccagaatctgagCagcctcttccatcaaaatgt	5	12	5	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1065					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAATCTGAGCAGCCTCTTCC	0.343																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3193-3195)Gct>Tct		aquarius intron-binding spliceosomal factor							94	90	91					15																	35168180		1825	4078	5903	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168180C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3193G>T	15.37:g.35168180C>A	ENSP00000156471:p.Ala1065Ser						p.A1065S	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3418	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1065					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3193G>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507263	0.85282	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80123	-1.34	5.03	4.1	0.47936	.	0.047169	0.85682	N	0.000000	D	0.87865	0.6285	M	0.66439	2.03	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.88104	0.2821	10	0.52906	T	0.07	-15.6622	14.693	0.69101	0.1464:0.8536:0.0:0.0	.	1065	O60306	AQR_HUMAN	S	1065	ENSP00000156471:A1065S	ENSP00000156471:A1065S	A	-	1	0	AQR	32955472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	1.075000	0.40932	0.650000	0.86243	GCT		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		50	371	1	0	2.0833e-19	1	2.30579e-19	50	371					A	35168180	C	A	35168180	3	1	42	1	0	0	0	0	1	0	0	0	835	710	25	3	1296	3	AQR	15	35168180	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		35168180	67363212	66	4935											
CCNF	899	broad.mit.edu	37	chr16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcctgcacctgaccGtggagtgtgtggaccggtac	15	12	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	335	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCACCTGACCGTGGAGTGTGT	0.607																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1003-1005)Gtg>Ttg		cyclin F							106	74	85					16																	2495532		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2495532G>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1003G>T	16.37:g.2495532G>T	ENSP00000380256:p.Val335Leu						p.V335L	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			10	1091	+		Ovarian(90;0.17)	335			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1003G>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638473	0.87760	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.15718	2.4	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.056215	0.64402	D	0.000001	T	0.48295	0.1492	M	0.87827	2.91	0.58432	D	0.999998	D	0.71674	0.998	D	0.67548	0.952	T	0.55490	-0.8133	10	0.87932	D	0	-26.3978	17.9615	0.89086	0.0:0.0:1.0:0.0	.	335	P41002	CCNF_HUMAN	L	335;250	ENSP00000380256:V335L	ENSP00000293968:V250L	V	+	1	0	CCNF	2435533	1.000000	0.71417	0.961000	0.40146	0.953000	0.61014	7.645000	0.83430	2.586000	0.87340	0.557000	0.71058	GTG		0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		51	336	1	0	8.00217e-19	1	8.68807e-19	51	336					T	2495532	G	T	2495532	3	4	42	1	0	0	0	0	1	0	0	0	2931	1145	40	3	1041	3	CCNF	16	2495532	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		2495532	87859221	67	4936											
GRIN2A	2903	broad.mit.edu	37	chr16	9934952	9934952	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacattcatcccctcattGgttgaattgctgtaaagaaa	6	9	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000396575.2_Silent_p.T446T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	446					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)			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)	TCCCCTCATTGGTTGAATTGC	0.403																																						ENST00000396573.2																			0				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						c.(1336-1338)acC>acA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						68	62	64					16																	9934952		2197	4300	6497	SO:0001819	synonymous_variant	0				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.chr16:9934952G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1338C>A	16.37:g.9934952G>T						GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T|GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T	p.T446T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1647	-			446					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1338C>A	CCDS10539.1																																																																																				0.403	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			60	389	1	0	5.86059e-21	1	6.61492e-21	60	389					T	9934952	G	T	9934952	2	4	42	1	0	0	0	0	0	0	0	1	6809	1335	47	3		3	GRIN2A	16	9934952	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	7439420	9934952	80419801	68	4937											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		16	390						16	390	---	---	---	---	-	69726422	CAG	-	69726420	7	5	42	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08	59791468	69726420	20628333	69	4938											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	292						7	292	---	---	---	---	-	8397097	CCT	-	8397095	7	5	42	1	0	1	0	1	0	0	0	0	10071	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-F2-A44G-01A-11D-A26I-08		8397095	72798115	70	4939											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			12	359						12	359	---	---	---	---	-	8415822	TTC	-	8415820	7	5	42	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	18725	8415820	72779390	71	4940											
MYH2	4620	broad.mit.edu	37	chr17	10432367	10432367	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggaggcccgctctgcctcGatttcctcctccagctcctc	9	19	1	0	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1128					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3382-3384)atC>atT		myosin, heavy chain 2, skeletal muscle, adult		G	,	2,4396		0,2,2197	34	39	37		3384,3384	-2.5	1	17	dbSNP_134	37	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,3,6492	AA,AG,GG		0.0116,0.0455,0.0231	,	1128/1942,1128/1942	10432367	3,12987	2199	4296	6495	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432367G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3384C>T	17.37:g.10432367G>A						MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.I1128I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3768	-			1128					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3384C>T	CCDS11156.1																																																																																				0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		58	330	0	0	0	1	0	58	330					A	10432367	G	A	10432367	2	1	42	1	0	0	0	0	0	0	0	1	10076	1048	37	1		1	MYH2	17	10432367	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	2016547	10432367	70762843	72	4941											
DNAH9	1770	broad.mit.edu	37	chr17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcactcaggtcccctatgatGatttgcgctacctgtttgga	9	11	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.4	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4104					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTATGATGATTTGCGCTA	0.532																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12310-12312)Gat>Aat		dynein, axonemal, heavy chain 9							81	78	79					17																	11837209		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11837209G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12310G>A	17.37:g.11837209G>A	ENSP00000262442:p.Asp4104Asn					DNAH9_ENST00000396001.2_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N	p.D4104N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	65	12378	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4104					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12310G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813398	0.90790	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10192	2.9;2.9;2.9	5.0	5.0	0.66597	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.88031	2.925	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.45556	-0.9253	10	0.66056	D	0.02	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	4104	Q9NYC9	DYH9_HUMAN	N	4104;4028;2610;416	ENSP00000262442:D4104N;ENSP00000414874:D4028N;ENSP00000379323:D416N	ENSP00000262442:D4104N	D	+	1	0	DNAH9	11777934	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.601000	0.98297	2.761000	0.94854	0.650000	0.86243	GAT		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		51	296	0	0	0	1	0	51	296					A	11837209	G	A	11837209	3	1	42	1	0	0	0	0	1	0	0	0	4624	1290	45	2	12568	2	DNAH9	17	11837209	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	1404842	11837209	69358001	73	4942											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		7	616						7	616	---	---	---	---	-	62291440	TCC	-	62291438	7	5	42	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-F2-A44G-01A-11D-A26I-08	50454229	62291438	18903772	74	4943											
SEPT9	10801	broad.mit.edu	37	chr17	75471704	75471704	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagggagggcagcTggaggctgctccagtgtgca	18	10	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:75471704T>A	ENST00000427177.1	+	4	847				SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.L35Q|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000585930.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000541152.2_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGGGCAGCTGGAGGCTGCT	0.662																																						ENST00000427180.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(103-105)cTg>cAg		septin 9							27	29	28					17																	75471704		1568	3582	5150	SO:0001627	intron_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75471704T>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6522T>A	17.37:g.75471704T>A						SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000592481.1_Intron	p.L35Q	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		1	380	+			219					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.104T>A	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861780	0.17178	.	.	ENSG00000184640	ENST00000427180	T	0.55930	0.49	1.19	-2.05	0.07321	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	0.999999	B	0.14012	0.009	B	0.04013	0.001	T	0.27468	-1.0073	8	0.87932	D	0	.	2.0025	0.03470	0.2607:0.1943:0.0:0.545	.	35	Q9UHD8-8	.	Q	35	ENSP00000415624:L35Q	ENSP00000415624:L35Q	L	+	2	0	SEPT9	72983299	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.534000	0.06150	-0.663000	0.05331	0.247000	0.18012	CTG		0.662	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		5	175	0	0	0	1	0	5	175					A	75471704	T	A	75471704	1	1	42	0	1	0	0	0	0	0	0	0	14121	1580	55	5		5	SEPT9	17	75471704	Intron	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	13180266	75471704	5723506	75	4944											
KCTD1	284252	broad.mit.edu	37	chr18	24128262	24128264	+	Intron	DEL	TCC	TCC	-													cctccagccccccacctccgTcctcctcctcctcctcgtcc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr18:24128262_24128264delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000417602.1_In_Frame_Del_p.E79del|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000580059.1_5'Flank	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(235-240)gac>ga		potassium channel tetramerization domain containing 1			,,	34,7,3315		2,0,30,2,3,1641					,,	3.5	1			3	107,4,6623		7,0,93,0,4,3263	no	intron,codingComplex,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	9,0,123,2,7,4904	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6484,1.2217,1.5064	,,	,,		141,11,9938				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128262_24128264delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+590GGA>-	18.37:g.24128271_24128273delTCC						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	p.ED79del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	236_238	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.237_239delGGA	CCDS11888.1																																																																																				0.69	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		5	7						5	7	---	---	---	---	-	24128264	TCC	-	24128262	6	5	42	0	1	1	0	1	0	0	0	0	8126	1667	58	0		0	KCTD1	18	24128262	Intron	DEL	TCC	TCGA-F2-A44G-01A-11D-A26I-08		24128262	53948986	76	4945											
EEF2	1938	broad.mit.edu	37	chr19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgatgggctccacGtagcggcccatcatcaagat	9	14	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1369-1371)taC>taA		eukaryotic translation elongation factor 2							43	39	40					19																	3980040		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980040G>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>A	19.37:g.3980040G>T	ENSP00000307940:p.Tyr457*						p.Y457*	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1459	-		Hepatocellular(1079;0.137)	457					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.1371C>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671855	0.96754	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		24	187	1	0	2.52088e-20	1	2.81745e-20	24	187					T	3980040	G	T	3980040	4	4	42	1	0	0	0	0	0	1	0	0	4945	1140	40	3	1229	3	EEF2	19	3980040	Nonsense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		3980040	55148943	77	4946											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-													tgggcttctctttgtgggccTtttccctgggaacagaccga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)aagfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(88-90)agfs		UBX domain protein 6							102	115	111					19																	4454085		2203	4300	6503	SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454085delT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.89delA	19.37:g.4454085delT	ENSP00000301281:p.Lys30fs					CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	p.K30fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	213	-			30					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Del	DEL	ENST00000301281.6	37	c.89delA	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		11	1255						11	1255	---	---	---	---	-	4454085	T	-	4454085	7	5	42	1	0	1	0	1	0	0	0	0	16971	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	474045	4454085	54674898	78	4947											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		9	291						9	291	---	---	---	---	-	6381793	CTT	-	6381791	7	5	42	1	0	1	0	1	0	0	0	0	6888	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-F2-A44G-01A-11D-A26I-08	1927706	6381791	52747192	79	4948											
JAK3	3718	broad.mit.edu	37	chr19	17943473	17943473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcacctgtattgtcGcctagcgggtcatagcggca	13	12	1	0	rs200746503		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000527670.1	-	18	2564	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000534444.1_Silent_p.G845G|JAK3_ENST00000458235.1_Silent_p.G845G			P52333	JAK3_HUMAN	Janus kinase 3	845	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.			GD -> AH (in Ref. 1; AAA19626). {ECO:0000305}.	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)			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)	CTGTATTGTCGCCTAGCGGGT	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				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						c.(2533-2535)ggC>ggT		Janus kinase 3							83	75	78					19																	17943473		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:17943473G>A	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.2535C>T	19.37:g.17943473G>A						JAK3_ENST00000527670.1_Silent_p.G845G|JAK3_ENST00000534444.1_Silent_p.G845G	p.G845G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2634	-			845	GD -> AH (in Ref. 1; AAA19626).		Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.2535C>T	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		94	589	0	0	0	1	0	94	589					A	17943473	G	A	17943473	2	1	42	1	0	0	0	0	0	0	0	1	7969	1074	38	1		1	JAK3	19	17943473	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	11561682	17943473	41185510	80	4949											
DHDH	27294	broad.mit.edu	37	chr19	49447742	49447742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttatgaggccaagcaCgtctgggagtgcctacgcaa	13	9	1	2	rs377571592		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000221403.2	+	6	913	c.873C>T	c.(871-873)caC>caT	p.H291H	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Silent_p.H152H	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	291					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCCAAGCACGTCTGGGAGT	0.617																																						ENST00000221403.2																			0				central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9						c.(871-873)caC>caT		dihydrodiol dehydrogenase (dimeric)		C		0,4406		0,0,2203	71	68	69		873	-5.1	0.7	19		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHDH	NM_014475.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		291/335	49447742	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49447742C>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.873C>T	19.37:g.49447742C>T						DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Silent_p.H152H	p.H291H	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	6	913	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	291						Silent	SNP	ENST00000221403.2	37	c.873C>T	CCDS12741.1																																																																																				0.617	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		70	431	0	0	0	1	0	70	431					T	49447742	C	T	49447742	2	4	42	1	0	0	0	0	0	0	0	1	4495	535	19	1		1	DHDH	19	49447742	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	31504269	49447742	9681241	81	4950											
ZNF667	63934	broad.mit.edu	37	chr19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctttttgaagcctctcCcacatttattatatttatgt	3	8	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000504904.3	-	7	1579	c.860G>A	c.(859-861)gGg>gAg	p.G287E	ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCCTCTCCCACATTTATT	0.363																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(859-861)gGg>gAg		zinc finger protein 667							70	75	73					19																	56953504		2202	4297	6499	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953504C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.860G>A	19.37:g.56953504C>T	ENSP00000439402:p.Gly287Glu					ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000591790.1_3'UTR	p.G287E			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1579	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	287					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.860G>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.380022	0.11466	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.35421	1.31;1.31;1.31	5.05	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.500329	0.16953	N	0.192810	T	0.24851	0.0603	L	0.41356	1.27	0.25144	N	0.990479	P;P	0.39748	0.686;0.551	B;B	0.33960	0.173;0.085	T	0.11421	-1.0588	10	0.56958	D	0.05	-0.6017	7.2307	0.26040	0.0:0.7256:0.0:0.2744	.	415;287	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	415;287;287;69	ENSP00000344699:G415E;ENSP00000439402:G287E;ENSP00000292069:G287E	ENSP00000292069:G287E	G	-	2	0	ZNF667	61645316	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	2.416000	0.44644	0.676000	0.31285	0.591000	0.81541	GGG		0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		61	500	0	0	0	1	0	61	500					T	56953504	C	T	56953504	3	4	42	1	0	0	0	0	1	0	0	0	18127	623	22	2	976	2	ZNF667	19	56953504	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	7505762	56953504	2175479	82	4951											
ZNF835	90485	broad.mit.edu	37	chr19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggcaggtgtagggccGctcgcccgtgtgcgtgcgct	18	13	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	444					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTAGGGCCGCTCGCCCGTG	0.672																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1330-1332)Cgg>Tgg		zinc finger protein 835							45	51	49					19																	57175237		2201	4297	6498	SO:0001583	missense	90485							g.chr19:57175237G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1330C>T	19.37:g.57175237G>A	ENSP00000444747:p.Arg444Trp						p.R444W	NM_001005850.2	NP_001005850.2					2	1561	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1330C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845368	0.51164	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.20332	2.08	2.15	-1.97	0.07503	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44222	0.1283	M	0.83483	2.645	0.25382	N	0.988608	D	0.89917	1.0	D	0.73708	0.981	T	0.34576	-0.9823	9	0.87932	D	0	.	9.9557	0.41666	0.0:0.0:0.2207:0.7793	.	466	Q9Y2P0	ZN835_HUMAN	W	466;444	ENSP00000444747:R444W	ENSP00000341756:R466W	R	-	1	2	ZNF835	61867049	0.000000	0.05858	0.574000	0.28523	0.685000	0.39939	-0.428000	0.06991	-0.414000	0.07495	0.561000	0.74099	CGG		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		75	435	0	0	0	1	0	75	435					A	57175237	G	A	57175237	3	1	42	1	0	0	0	0	1	0	0	0	18239	1086	38	1	285	1	ZNF835	19	57175237	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	221733	57175237	1953746	83	4952											
BPIL1	80341	broad.mit.edu	37	chr20	31604852	31604852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcttaccacagctgtGcctgagcatctccaacctgg	8	15	3	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:31604852G>T	ENST00000170150.3	+	7	716	c.521G>T	c.(520-522)tGc>tTc	p.C174F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	174						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCACAGCTGTGCCTGAGCATC	0.617																																						ENST00000170150.3																			0											c.(520-522)tGc>tTc		BPI fold containing family B, member 2							120	120	120					20																	31604852		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31604852G>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.521G>T	20.37:g.31604852G>T	ENSP00000170150:p.Cys174Phe						p.C174F	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			7	716	+			174					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.521G>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558695	0.27827	.	.	ENSG00000078898	ENST00000170150	T	0.34275	1.37	4.07	3.13	0.36017	.	0.000000	0.64402	D	0.000019	T	0.45094	0.1325	L	0.36672	1.1	0.42278	D	0.992083	D	0.89917	1.0	D	0.91635	0.999	T	0.42899	-0.9424	10	0.87932	D	0	-15.0743	7.8228	0.29296	0.1119:0.0:0.8881:0.0	.	174	Q8N4F0	BPIB2_HUMAN	F	174	ENSP00000170150:C174F	ENSP00000170150:C174F	C	+	2	0	BPIFB2	31068513	0.998000	0.40836	0.947000	0.38551	0.133000	0.20885	2.864000	0.48404	1.314000	0.45095	0.561000	0.74099	TGC		0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		148	871	1	0	3.78446e-69	1	4.49405e-69	148	871					T	31604852	G	T	31604852	3	4	42	1	0	0	0	0	1	0	0	0	1495	1319	46	3	543	3	BPIL1	20	31604852	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		31604852	31420668	84	4953											
GNAS	2778	broad.mit.edu	37	chr20	57429663	57429663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgactccggggcggcccctgAcgccccagccgatcccgact	12	20	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:57429663A>C	ENST00000371100.4	+	1	1895	c.1343A>C	c.(1342-1344)gAc>gCc	p.D448A	GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCCCTGACGCCCCAGCC	0.771			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(1342-1344)gAc>gCc		GNAS complex locus							2	2	2					20																	57429663		804	2066	2870	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429663A>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1343A>C	20.37:g.57429663A>C	ENSP00000360141:p.Asp448Ala	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P	p.D448A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1895	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1343A>C	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.360743|1.360743	0.24598|0.24598	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.88277|.	-2.28;-2.36|.	4.94|4.94	-7.29|-7.29	0.01451|0.01451	.|.	2585.400000|.	0.00738|.	N|.	0.000990|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|6	0.08381|0.45353	T|T	0.77|0.12	.|.	10.372|10.372	0.44060|0.44060	0.5274:0.2745:0.1982:0.0|0.5274:0.2745:0.1982:0.0	.|.	448|.	Q5JWF2|.	GNAS1_HUMAN|.	A|P	448|385	ENSP00000360141:D448A;ENSP00000360143:D448A|.	ENSP00000360140:D448A|ENSP00000302237:T385P	D|T	+|+	2|1	0|0	GNAS|GNAS	56863058|56863058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.231000|-0.231000	0.09069|0.09069	-1.486000|-1.486000	0.01851|0.01851	-0.464000|-0.464000	0.05259|0.05259	GAC|ACG		0.771	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		6	18	0	0	0	1	0	6	18					C	57429663	A	C	57429663	3	2	42	1	0	0	0	0	1	0	0	0	6539	275	10	4	2087	4	GNAS	20	57429663	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	25824811	57429663	5595857	85	4954											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagagattaccgaagggCgctctgcaggctgagtcagg	16	8	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000333467.3	+	3	446	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TACCGAAGGGCGCTCTGCAGG	0.607																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(400-402)gCg>gTg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							49	53	52					22																	39382043		2200	4289	6489	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382043C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.401C>T	22.37:g.39382043C>T	ENSP00000327459:p.Ala134Val					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.A134V	p.A134V			Q9UH17	ABC3B_HUMAN			3	456	+	Melanoma(58;0.04)		134					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.401C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350943	0.41599	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.67698	-0.28;-0.28;-0.28	2.12	-1.53	0.08611	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.66528	0.2798	M	0.64997	1.995	0.09310	N	1	P;D	0.61697	0.92;0.99	B;P	0.53649	0.375;0.731	T	0.57171	-0.7857	9	0.56958	D	0.05	.	3.7999	0.08754	0.3031:0.2104:0.4865:0.0	.	134;134	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	134	ENSP00000385068:A134V;ENSP00000385060:A134V;ENSP00000327459:A134V	ENSP00000327459:A134V	A	+	2	0	APOBEC3B	37711989	1.000000	0.71417	0.002000	0.10522	0.013000	0.08279	2.701000	0.47094	-0.292000	0.08999	0.194000	0.17425	GCG		0.607	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		54	375	0	0	0	1	0	54	375					T	39382043	C	T	39382043	3	4	42	1	0	0	0	0	1	0	0	0	790	768	27	1	411	1	APOBEC3B	22	39382043	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		39382043	11922523	86	4955											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		16	297						16	297	---	---	---	---	-	21627680	GAG	-	21627678	7	5	42	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-F2-A44G-01A-11D-A26I-08		21627678	133642882	87	4956											
MED14	9282	broad.mit.edu	37	chrX	40539348	40539348	+	Frame_Shift_Del	DEL	T	T	-													tcggcacagtggggagtttgTtgatggcatttaatggagcc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)aacfs	p.N883fs	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	883					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGTTTGTTGATGGCATT	0.463																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2647-2649)acfs		mediator complex subunit 14							150	127	135					X																	40539348		2203	4300	6503	SO:0001589	frameshift_variant	9282				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.chrX:40539348delT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2648delA	X.37:g.40539348delT	ENSP00000323720:p.Asn883fs					MED14_ENST00000496531.1_Intron	p.N883fs	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			21	2766	-			883					Q4KMR7|Q9UNB3	Frame_Shift_Del	DEL	ENST00000324817.1	37	c.2648delA	CCDS14254.1																																																																																				0.463	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		58	420						58	420	---	---	---	---	-	40539348	T	-	40539348	7	5	42	1	0	1	0	1	0	0	0	0	9473	1725	60	0	1760	0	MED14	23	40539348	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	18911670	40539348	114731212	88	4957											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		11	389						11	389	---	---	---	---	-	70360650	CAG	-	70360648	7	5	42	1	0	1	0	1	0	0	0	0	9469	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08	29821300	70360648	84909912	89	4958											
CSTF2	1478	broad.mit.edu	37	chrX	100078981	100078981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgagaattgtggatcCggaaattgccctggtgagtg	15	5	0	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000372972.2	+	5	567	c.551C>T	c.(550-552)cCg>cTg	p.P184L	CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	184	Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATTGTGGATCCGGAAATTGCC	0.468																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(550-552)cCg>cTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							180	155	164					X																	100078981		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100078981C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.551C>T	X.37:g.100078981C>T	ENSP00000362063:p.Pro184Leu					CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.P184L	p.P184L			P33240	CSTF2_HUMAN			5	573	+			184			Interactions with CSTF3 and SYMPK.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.551C>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441413	0.83993	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.18810	2.27;2.22;2.19	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.92555	3.32	0.80722	D	1	D;P;P	0.71674	0.998;0.723;0.941	D;B;P	0.65323	0.934;0.206;0.603	T	0.69124	-0.5228	10	0.72032	D	0.01	-6.4506	18.0432	0.89324	0.0:1.0:0.0:0.0	.	184;184;184	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	184;184;184;175	ENSP00000387996:P184L;ENSP00000362063:P184L;ENSP00000415705:P175L	ENSP00000362063:P184L	P	+	2	0	CSTF2	99965637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.237000	0.78164	2.196000	0.70406	0.600000	0.82982	CCG		0.468	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		95	714	0	0	0	1	0	95	714					T	100078981	C	T	100078981	3	4	42	1	0	0	0	0	1	0	0	0	3995	652	23	1	569	1	CSTF2	23	100078981	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	29718333	100078981	55191579	90	4959											
BHLHB9	80823	broad.mit.edu	37	chrX	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggagttggaacctgCggctggggccgattgcaaac	16	9	0	1	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	154					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGAACCTGCGGCTGGGGCC	0.493																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(460-462)gCg>gTg		basic helix-loop-helix domain containing, class B, 9		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,3834		0,1,0,1631,571	77	82	80		461,461,461,461,461,461,461,461	-3.8	0	X	dbSNP_134	80	7,6721		0,4,3,2424,1869	yes	missense,missense,missense,missense,missense,missense,missense,missense	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	64,64,64,64,64,64,64,64	0,5,3,4055,2440	TT,TC,T,CC,C		0.104,0.0261,0.0757	benign,benign,benign,benign,benign,benign,benign,benign	154/548,154/548,154/548,154/548,154/548,154/548,154/548,154/548	102004384	8,10555	2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004384C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.461C>T	X.37:g.102004384C>T	ENSP00000361820:p.Ala154Val					BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V	p.A154V			Q6PI77	BHLH9_HUMAN			4	1046	+			154					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.461C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.284174	0.01398	2.61E-4	0.00104	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.28	-3.82	0.04281	.	1.511530	0.04870	N	0.445679	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	9	.	.	.	-24.6357	6.258	0.20884	0.163:0.5429:0.0:0.2941	.	154	Q6PI77	BHLH9_HUMAN	V	154	ENSP00000403226:A154V;ENSP00000354675:A154V;ENSP00000405893:A154V;ENSP00000391722:A154V;ENSP00000361820:A154V	.	A	+	2	0	BHLHB9	101891040	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.898000	0.04105	-0.959000	0.03618	-0.395000	0.06472	GCG		0.493	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		129	802	0	0	0	1	0	129	802					T	102004384	C	T	102004384	3	4	42	1	0	0	0	0	1	0	0	0	1422	768	27	1	463	1	BHLHB9	23	102004384	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	1925403	102004384	53266176	91	4960											
TEX13A	56157	broad.mit.edu	37	chrX	104463929	104463929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttgtggaggggatataGtgggtatgtctgagaaggag	18	2	1	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000413579.1	-	5	1058	c.947C>A	c.(946-948)aCt>aAt	p.T316N	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.L317I			Q9BXU3	TX13A_HUMAN	testis expressed 13A	316							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGGGATATAGTGGGTATGTC	0.557																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(949-951)Cta>Ata		testis expressed 13A							105	103	104					X																	104463929		2180	4289	6469	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463929G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.947C>A	X.37:g.104463929G>T	ENSP00000399753:p.Thr316Asn					IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|TEX13A_ENST00000413579.1_Missense_Mutation_p.T316N	p.L317I	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	1060	-			0					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.949C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942954|1.942954	0.34283|0.34283	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.32|3.32	1.48|1.48	0.22813|0.22813	.|.	.|1.263750	.|0.05914	.|N	.|0.632236	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.52598	.|0.703	T|T	0.21724|0.21724	-1.0237|-1.0237	6|9	0.87932|0.56958	D|D	0|0.05	.|.	3.943|3.943	0.09336|0.09336	0.146:0.2451:0.6089:0.0|0.146:0.2451:0.6089:0.0	.|.	.|316	.|Q9BXU3	.|TX13A_HUMAN	I|N	317|316	.|.	ENSP00000361656:L317I|ENSP00000399753:T316N	L|T	-|-	1|2	2|0	TEX13A|TEX13A	104350585|104350585	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	1.926000|1.926000	0.40084|0.40084	0.262000|0.262000	0.21774|0.21774	-0.545000|-0.545000	0.04230|0.04230	CTA|ACT		0.557	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		51	330	1	0	3.21987e-24	1	3.70773e-24	51	330					T	104463929	G	T	104463929	3	4	42	1	0	0	0	0	1	0	0	0	15828	1020	36	3	286	3	TEX13A	23	104463929	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	2459545	104463929	50806631	92	4961											
FBXO44	93611	broad.mit.edu	37	chr1	11716084	11716084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggactgggaccagccCgtggccgactggaagatctt	14	11	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:11716084C>T	ENST00000251547.5	+	2	274	c.192C>T	c.(190-192)ccC>ccT	p.P64P	FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO2_ENST00000475961.1_5'Flank|FBXO44_ENST00000376762.4_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376770.1_Silent_p.P64P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	64						SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACCAGCCCGTGGCCGACT	0.627																																						ENST00000376770.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(190-192)ccC>ccT		F-box protein 44							93	99	97					1																	11716084		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716084C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.192C>T	1.37:g.11716084C>T						FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000251547.5_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P|FBXO44_ENST00000376768.1_Silent_p.P64P	p.P64P	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	690	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	64					B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	37	c.192C>T	CCDS132.1																																																																																				0.627	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		50	299	0	0	0	1	0	50	299					T	11716084	C	T	11716084	2	4	43	1	0	0	0	0	0	0	0	1	5778	639	23	1		1	FBXO44	1	11716084	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		11716084	237534537	1	4962											
ARID1A	8289	broad.mit.edu	37	chr1	27099479	27099479	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggcagcatgaggaaagGtgactgatctgattgctatt	12	5	1	4			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099479G>A	ENST00000324856.7	+	14	4086		c.e14+1		ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAGGAAAGGTGACTGATCT	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.e14+1		AT rich interactive domain 1A (SWI-like)							94	103	100					1																	27099479		2203	4300	6503	SO:0001630	splice_region_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099479G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3715+1G>A	1.37:g.27099479G>A						ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site		NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4086	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	SNP	ENST00000324856.7	37		CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619732	0.66787	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000430799	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID1A	26972066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.791000	0.96007	0.655000	0.94253	.		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Intron	26	155	0	0	0	1	0	26	155					A	27099479	G	A	27099479	5	1	43	1	0	0	0	0	0	0	1	0	913	1275	44	2	3770	2	ARID1A	1	27099479	Splice_Site	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	15383395	27099479	222151142	2	4963											
ARID1A	8289	broad.mit.edu	37	chr1	27099947	27099947	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtggcgatgggaccaCgacagcactatccctatgga	12	10	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099947C>T	ENST00000324856.7	+	15	4197	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1276					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGGGACCACGACAGCACTA	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	10	Substitution - Nonsense(7)|Deletion - Frameshift(2)|Complex(1)	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	haematopoietic_and_lymphoid_tissue(3)|liver(3)|endometrium(2)|pancreas(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3826-3828)Cga>Tga		AT rich interactive domain 1A (SWI-like)							73	65	67					1																	27099947		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099947C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3826C>T	1.37:g.27099947C>T	ENSP00000320485:p.Arg1276*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*	p.R1276*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4197	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1276					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3826C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.564494|8.564494	0.98866|0.98866	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	3.74|3.74	0.42951|0.42951	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66893	.|-0.5808	.|4	0.02654|.	T|.	1|.	-1.2857|-1.2857	14.0159|14.0159	0.64523|0.64523	0.227:0.773:0.0:0.0|0.227:0.773:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1276;1276;893|172	.|.	ENSP00000320485:R1276X|.	R|T	+|+	1|2	2|0	ARID1A|ARID1A	26972534|26972534	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.516000|1.516000	0.35856|0.35856	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	104	0	0	0	1	0	11	104					T	27099947	C	T	27099947	4	4	43	1	0	0	0	0	0	1	0	0	913	528	19	1	3884	1	ARID1A	1	27099947	Nonsense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	468	27099947	222150674	3	4964											
MANEAL	149175	broad.mit.edu	37	chr1	38260133	38260133	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccgcggaggccgagccCgcccccgtgcagagcctgcg	15	19	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:38260133C>A	ENST00000373045.6	+	1	660	c.279C>A	c.(277-279)ccC>ccA	p.P93P	MANEAL_ENST00000525897.1_5'Flank|MANEAL_ENST00000397631.3_Silent_p.P93P|MANEAL_ENST00000329006.5_5'Flank	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	93	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCGAGCCCGCCCCCGTGC	0.791																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(277-279)ccC>ccA		mannosidase, endo-alpha-like							4	4	4					1																	38260133		1268	3044	4312	SO:0001819	synonymous_variant	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38260133C>A	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.279C>A	1.37:g.38260133C>A						MANEAL_ENST00000397631.3_Silent_p.P93P	p.P93P	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			1	660	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	93			Pro-rich.		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	c.279C>A	CCDS44110.1																																																																																				0.791	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		3	26	1	0	0.115264	1	0.118466	3	26					A	38260133	C	A	38260133	2	1	43	1	0	0	0	0	0	0	0	1	9263	639	23	3		3	MANEAL	1	38260133	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	11160186	38260133	210990488	4	4965											
TIE1	7075	broad.mit.edu	37	chr1	43778910	43778910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaatatccaagtacGttgtggaggtgcaggtggct	15	8	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:43778910G>A	ENST00000372476.3	+	13	2111	c.2032G>A	c.(2032-2034)Gtt>Att	p.V678I	TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	678	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCAAGTACGTTGTGGAGGT	0.632																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2032-2034)Gtt>Att		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							118	94	102					1																	43778910		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778910G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2032G>A	1.37:g.43778910G>A	ENSP00000361554:p.Val678Ile					TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	p.V678I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			13	2111	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	678			Fibronectin type-III 3.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2032G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258294	0.01445	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.57107	0.42;0.42	5.08	1.24	0.21308	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179360	0.26563	N	0.023668	T	0.18215	0.0437	N	0.00642	-1.3	0.19775	N	0.999952	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27536	-1.0071	10	0.13853	T	0.58	.	11.398	0.49854	0.8638:0.0:0.1362:0.0	.	323;633;678;323;678	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	I	678;81;323	ENSP00000361554:V678I;ENSP00000411728:V323I	ENSP00000361553:V81I	V	+	1	0	TIE1	43551497	1.000000	0.71417	0.908000	0.35775	0.331000	0.28603	2.067000	0.41461	-0.002000	0.14469	-2.033000	0.00422	GTT		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		18	213	0	0	0	1	0	18	213					A	43778910	G	A	43778910	3	1	43	1	0	0	0	0	1	0	0	0	15945	1145	40	1	2082	1	TIE1	1	43778910	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	5518777	43778910	205471711	5	4966											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		14	263						14	263	---	---	---	---	-	46184898	AC	-	46184897	7	5	43	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-F2-A7TX-01A-33D-A38G-08	2405987	46184897	203065724	6	4967											
SGIP1	84251	broad.mit.edu	37	chr1	67137671	67137671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccacaccaactccagaaCttataaggtgagtgtgaaag	9	9	0	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:67137671C>A	ENST00000371037.4	+	11	630	c.553C>A	c.(553-555)Ctt>Att	p.L185I	AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	185	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACTCCAGAACTTATAAGGTG	0.403																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(553-555)Ctt>Att		SH3-domain GRB2-like (endophilin) interacting protein 1							115	109	111					1																	67137671		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137671C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.553C>A	1.37:g.67137671C>A	ENSP00000360076:p.Leu185Ile					SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron	p.L185I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			11	630	+			185			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.553C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893702	0.33442	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.17370	2.28;3.98;3.98;2.28;3.98;2.28	5.53	5.53	0.82687	.	0.251717	0.41001	D	0.000975	T	0.08223	0.0205	L	0.36672	1.1	0.28969	N	0.889373	B	0.06786	0.001	B	0.06405	0.002	T	0.06972	-1.0797	10	0.37606	T	0.19	-17.8373	19.4593	0.94910	0.0:1.0:0.0:0.0	.	185	Q9BQI5	SGIP1_HUMAN	I	189;153;177;142;188;188;152;185	ENSP00000237247:L189I;ENSP00000360078:L153I;ENSP00000410439:L177I;ENSP00000360074:L142I;ENSP00000360075:L152I;ENSP00000360076:L185I	ENSP00000237247:L189I	L	+	1	0	SGIP1	66910259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.925000	0.70062	2.601000	0.87937	0.563000	0.77884	CTT		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		15	172	1	0	1.00905e-13	1	1.13136e-13	15	172					A	67137671	C	A	67137671	3	1	43	1	0	0	0	0	1	0	0	0	14256	565	20	3	595	3	SGIP1	1	67137671	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	20952774	67137671	182112950	7	4968											
FLG2	388698	broad.mit.edu	37	chr1	152324100	152324100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctccatgttgagatccGgcttggccatgagcgtgtcc	12	12	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:152324100G>A	ENST00000388718.5	-	3	6234	c.6162C>T	c.(6160-6162)gcC>gcT	p.A2054A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2054					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)			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)			GTTGAGATCCGGCTTGGCCAT	0.527																																						ENST00000388718.5																			0				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						c.(6160-6162)gcC>gcT		filaggrin family member 2							514	463	480					1																	152324100		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324100G>A	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.6162C>T	1.37:g.152324100G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.A2054A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2054					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6162C>T	CCDS30861.1																																																																																				0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		164	1688	0	0	0	1	0	164	1688					A	152324100	G	A	152324100	2	1	43	1	0	0	0	0	0	0	0	1	5948	1103	39	1		1	FLG2	1	152324100	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	85186429	152324100	96926521	8	4969											
KIFAP3	22920	broad.mit.edu	37	chr1	169985603	169985603	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatttctaaaaagcatacCtaggagtgcagtgagcttgg	10	6	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:169985603C>A	ENST00000361580.2	-	10	1410	c.1183G>T	c.(1183-1185)Ggc>Tgc	p.G395C	KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000367767.1_Splice_Site_p.G351C|KIFAP3_ENST00000367765.1_Splice_Site_p.G355C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAGCATACCTAGGAGTGCA	0.413																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.e10+1		kinesin-associated protein 3							109	100	103					1																	169985603		2203	4300	6503	SO:0001630	splice_region_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169985603C>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1183+1G>T	1.37:g.169985603C>A						KIFAP3_ENST00000361580.2_Splice_Site_p.G395_splice|KIFAP3_ENST00000367767.1_Splice_Site_p.G351_splice|KIFAP3_ENST00000538366.1_Splice_Site_p.G317_splice|KIFAP3_ENST00000540905.1_Splice_Site_p.G97_splice	p.G355_splice	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			10	2564	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		395					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Splice_Site	SNP	ENST00000361580.2	37	c.1063_splice	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200786	0.79015	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.146179	0.64402	D	0.000010	T	0.29061	0.0722	L	0.43152	1.355	0.80722	D	1	P	0.37061	0.58	B	0.38683	0.279	T	0.03493	-1.1031	9	.	.	.	-14.7883	19.7221	0.96147	0.0:1.0:0.0:0.0	.	395	Q92845	KIFA3_HUMAN	C	395;355;351;97;317	ENSP00000354560:G395C;ENSP00000356739:G355C;ENSP00000356741:G351C;ENSP00000442712:G97C;ENSP00000444622:G317C	.	G	-	1	0	KIFAP3	168252227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.357000	0.66058	2.758000	0.94735	0.563000	0.77884	GGC		0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	Missense_Mutation	4	267	1	0	0.248553	1	0.250812	4	267					A	169985603	C	A	169985603	5	1	43	1	0	0	0	0	0	0	1	0	8341	695	24	3	1239	3	KIFAP3	1	169985603	Splice_Site	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	17661503	169985603	79265018	9	4970											
DDX59	83479	broad.mit.edu	37	chr1	200613582	200613582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccagaagagtctttTtgaattattattgatgaaag	7	4	1	5			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:200613582T>C	ENST00000331314.6	-	8	1873	c.1660A>G	c.(1660-1662)Aaa>Gaa	p.K554E	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGAGTCTTTTTGAATTATTA	0.363																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1660-1662)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							124	128	126					1																	200613582		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613582T>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1660A>G	1.37:g.200613582T>C	ENSP00000330460:p.Lys554Glu					DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	p.K554E	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN			8	1873	-			554			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1660A>G	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.77|19.77	3.888564|3.888564	0.72524|0.72524	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000367346;ENST00000331314;ENST00000433235|ENST00000429498	D;T|.	0.90676|.	-2.71;3.6|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Helicase, C-terminal (1);|.	0.050113|0.050113	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.28014|0.28014	0.82|0.82	0.80722|0.80722	D|D	1|1	P|.	0.51791|.	0.948|.	P|.	0.48815|.	0.591|.	T|T	0.48127|0.48127	-0.9062|-0.9062	10|6	0.07813|.	T|.	0.8|.	-28.0703|-28.0703	11.583|11.583	0.50902|0.50902	0.0:0.0:0.1489:0.851|0.0:0.0:0.1489:0.851	.|.	554|.	Q5T1V6|.	DDX59_HUMAN|.	E|R	140;554;197|131	ENSP00000330460:K554E;ENSP00000409954:K197E|.	ENSP00000330460:K554E|.	K|K	-|-	1|2	0|0	DDX59|DDX59	198880205|198880205	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.998000|0.998000	0.95712|0.95712	5.995000|5.995000	0.70631|0.70631	2.073000|2.073000	0.62155|0.62155	0.523000|0.523000	0.50628|0.50628	AAA|AAA		0.363	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		32	371	0	0	0	1	0	32	371					C	200613582	T	C	200613582	3	2	43	1	0	0	0	0	1	0	0	0	4387	1850	64	4	203	4	DDX59	1	200613582	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	30627979	200613582	48637039	10	4971											
CYB5R1	51706	broad.mit.edu	37	chr1	202935980	202935980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccacagccaggccgAgcagagtgaccagccccacc	12	17	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:202935980A>T	ENST00000367249.4	-	2	136	c.62T>A	c.(61-63)cTc>cAc	p.L21H	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	21					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGCCAGGCCGAGCAGAGTGAC	0.657																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(61-63)cTc>cAc		cytochrome b5 reductase 1							26	30	29					1																	202935980		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202935980A>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.62T>A	1.37:g.202935980A>T	ENSP00000356218:p.Leu21His						p.L21H	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	136	-			21					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.62T>A	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423509	0.83559	.	.	ENSG00000159348	ENST00000367249	D	0.87966	-2.32	5.48	5.48	0.80851	.	0.513564	0.20313	N	0.094786	T	0.77922	0.4203	N	0.08118	0	0.45318	D	0.998319	D	0.59767	0.986	P	0.46718	0.525	T	0.76929	-0.2777	10	0.22109	T	0.4	.	13.506	0.61483	1.0:0.0:0.0:0.0	.	21	Q9UHQ9	NB5R1_HUMAN	H	21	ENSP00000356218:L21H	ENSP00000356218:L21H	L	-	2	0	CYB5R1	201202603	0.110000	0.22057	0.991000	0.47740	0.991000	0.79684	3.864000	0.56024	2.081000	0.62600	0.533000	0.62120	CTC		0.657	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		8	93	0	0	0	1	0	8	93					T	202935980	A	T	202935980	3	4	43	1	0	0	0	0	1	0	0	0	4137	304	11	5	887	5	CYB5R1	1	202935980	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	2322398	202935980	46314641	11	4972											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312564	205312564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaaggcggtccactggtCggcctccggggagtagacct	17	12	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:205312564C>T	ENST00000367156.3	-	5	985	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	57										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCACTGGTCGGCCTCCGGG	0.701																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(169-171)Gac>Aac		kelch domain containing 8A							40	42	42					1																	205312564		2202	4299	6501	SO:0001583	missense	55220							g.chr1:205312564C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.169G>A	1.37:g.205312564C>T	ENSP00000356124:p.Asp57Asn					KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N	p.D57N	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	985	-	Breast(84;0.23)		57					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.169G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041237	0.55003	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.73789	-0.78;-0.78;-0.78	5.55	5.55	0.83447	Kelch-type beta propeller (1);	0.048810	0.85682	D	0.000000	T	0.53367	0.1792	N	0.25144	0.715	0.45690	D	0.998606	B	0.25809	0.135	B	0.18561	0.022	T	0.51148	-0.8742	10	0.02654	T	1	-33.1818	9.7742	0.40609	0.0:0.8459:0.0:0.1541	.	57	Q8IYD2	KLD8A_HUMAN	N	57	ENSP00000356123:D57N;ENSP00000356124:D57N;ENSP00000442229:D57N	ENSP00000356123:D57N	D	-	1	0	KLHDC8A	203579187	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.678000	0.46900	2.590000	0.87494	0.655000	0.94253	GAC		0.701	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		24	266	0	0	0	1	0	24	266					T	205312564	C	T	205312564	3	4	43	1	0	0	0	0	1	0	0	0	8392	884	31	1	903	1	KLHDC8A	1	205312564	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2376584	205312564	43938057	12	4973											
AIDA	64853	broad.mit.edu	37	chr1	222885606	222885606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagtcgaagtcggcgccTctcctaaaactggcgcccca	10	15	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:222885606T>G	ENST00000340020.6	-	1	260	c.54A>C	c.(52-54)agA>agC	p.R18S	BROX_ENST00000539697.1_5'Flank|AIDA_ENST00000541237.1_Intron|BROX_ENST00000340934.5_5'Flank|BROX_ENST00000537020.1_5'Flank|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R18S	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	18					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGTCGGCGCCTCTCCTAAAAC	0.672																																						ENST00000340020.6																			0				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(52-54)agA>agC		axin interactor, dorsalization associated							18	15	16					1																	222885606		2200	4293	6493	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222885606T>G	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.54A>C	1.37:g.222885606T>G	ENSP00000339161:p.Arg18Ser					AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR	p.R18S	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN			1	260	-			18					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.54A>C	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404232	0.62288	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.51	-0.695	0.11291	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.043570	0.85682	D	0.000000	T	0.40222	0.1108	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.26849	-1.0091	9	0.72032	D	0.01	.	10.6482	0.45632	0.0:0.4119:0.0:0.5881	.	18	Q96BJ3	AIDA_HUMAN	S	18	.	ENSP00000339161:R18S	R	-	3	2	AIDA	220952229	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	0.355000	0.20163	0.071000	0.16664	-0.432000	0.05891	AGA		0.672	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		4	44	0	0	0	1	0	4	44					G	222885606	T	G	222885606	3	3	43	1	0	0	0	0	1	0	0	0	423	1548	54	4	906	4	AIDA	1	222885606	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	17573042	222885606	26365015	13	4974											
HEATR1	55127	broad.mit.edu	37	chr1	236751303	236751303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattatcatcacctaatcggGctaaaacagcttcttttatg	5	9	3	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:236751303G>A	ENST00000366582.3	-	13	1685	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	524					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)			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)			ACCTAATCGGGCTAAAACAGC	0.328																																						ENST00000366582.3																			0				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						c.(1570-1572)gCc>gTc		HEAT repeat containing 1							121	114	117					1																	236751303		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236751303G>A	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.1571C>T	1.37:g.236751303G>A	ENSP00000355541:p.Ala524Val					HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	p.A524V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		13	1685	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	524					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1571C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992337	0.35131	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.19;-0.18	5.8	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.610489	0.18337	N	0.144320	T	0.45256	0.1333	N	0.22421	0.69	0.21782	N	0.999549	B	0.18968	0.032	B	0.21546	0.035	T	0.32214	-0.9915	10	0.38643	T	0.18	.	8.0272	0.30444	0.0747:0.1198:0.6826:0.1228	.	524	Q9H583	HEAT1_HUMAN	V	524	ENSP00000355541:A524V;ENSP00000355540:A524V	ENSP00000355540:A524V	A	-	2	0	HEATR1	234817926	0.897000	0.30589	0.999000	0.59377	0.873000	0.50193	1.272000	0.33109	1.425000	0.47237	0.650000	0.86243	GCC		0.328	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	290	0	0	0	1	0	4	290					A	236751303	G	A	236751303	3	1	43	1	0	0	0	0	1	0	0	0	7057	1203	42	2	4995	2	HEATR1	1	236751303	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	13865697	236751303	12499318	14	4975											
KCNK3	3777	broad.mit.edu	37	chr2	26950912	26950912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacgcagccgcagtacGtggccttcagcttcgtctac	11	14	2	1	rs398123041		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:26950912G>A	ENST00000302909.3	+	2	786	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	221			V -> L (in PPH4; loss of function). {ECO:0000269|PubMed:23883380}.		brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCCGCAGTACGTGGCCTTCAG	0.617																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(661-663)Gtg>Atg		potassium channel, subfamily K, member 3							85	66	73					2																	26950912		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950912G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.661G>A	2.37:g.26950912G>A	ENSP00000306275:p.Val221Met						p.V221M	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	786	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		221					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.661G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236658	0.79800	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.28895	1.59	4.72	4.72	0.59763	Ion transport 2 (1);	0.206931	0.40818	N	0.001017	T	0.52092	0.1713	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55471	-0.8136	10	0.87932	D	0	.	15.5289	0.75936	0.0:0.0:1.0:0.0	.	221	O14649	KCNK3_HUMAN	M	98;221	ENSP00000306275:V221M	ENSP00000306275:V221M	V	+	1	0	KCNK3	26804416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.638000	0.98445	2.303000	0.77524	0.556000	0.70494	GTG		0.617	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		17	113	0	0	0	1	0	17	113					A	26950912	G	A	26950912	3	1	43	1	0	0	0	0	1	0	0	0	8097	1145	40	1	667	1	KCNK3	2	26950912	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		26950912	216248461	15	4976											
PLEKHH2	130271	broad.mit.edu	37	chr2	43958705	43958705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacaactctaccttcCgaagccctgcagacagaagc	7	16	2	3	rs371260816		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:43958705C>T	ENST00000282406.4	+	19	3017	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	969	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2905-2907)tcC>tcT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2		C		1,4405	2.1+/-5.4	0,1,2202	84	84	84		2907	-10.6	0.7	2		84	0,8600		0,0,4300	no	coding-synonymous	PLEKHH2	NM_172069.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		969/1494	43958705	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43958705C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2907C>T	2.37:g.43958705C>T							p.S969S	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			19	3017	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	969			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.2907C>T	CCDS1812.1																																																																																				0.328	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		27	303	0	0	0	1	0	27	303					T	43958705	C	T	43958705	2	4	43	1	0	0	0	0	0	0	0	1	12119	639	23	1		1	PLEKHH2	2	43958705	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	17007793	43958705	199240668	16	4977											
SLC4A5	57835	broad.mit.edu	37	chr2	74479414	74479416	+	In_Frame_Del	DEL	CCA	CCA	-													tgccagccccgccgccactgCcaccaccaccaccacctcca							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:74479414_74479416delCCA	ENST00000377634.4	-	16	1767_1769	c.1368_1370delTGG	c.(1366-1371)ggtggc>ggc	p.456_457GG>G	SLC4A5_ENST00000358683.4_In_Frame_Del_p.392_393GG>G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000394019.2_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000346834.4_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000359484.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000377632.1_In_Frame_Del_p.456_457GG>G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						gccgccactgccaccaccaccac	0.635																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1366-1371)ggc>gg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001651	inframe_deletion	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74479414_74479416delCCA	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1368_1370delTGG	2.37:g.74479423_74479425delCCA	ENSP00000366861:p.Gly457del					SLC4A5_ENST00000423644.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000377632.1_In_Frame_Del_p.GG456del|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000358683.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000357822.5_In_Frame_Del_p.GG456del|SLC4A5_ENST00000346834.4_In_Frame_Del_p.GG456del	p.GG456del	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			16	1765_1767	-			456			Gly-rich.			In_Frame_Del	DEL	ENST00000377634.4	37	c.1368_1370delTGG	CCDS1936.1																																																																																				0.635	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			7	147						7	147	---	---	---	---	-	74479416	CCA	-	74479414	7	5	43	1	0	1	0	1	0	0	0	0	14707	739	26	0	2107	0	SLC4A5	2	74479414	In_Frame_Del	DEL	CCA	TCGA-F2-A7TX-01A-33D-A38G-08	30520709	74479414	168719959	17	4978											
MYO7B	4648	broad.mit.edu	37	chr2	128354060	128354060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaggacactctgctggaGgtacagagaagccaggtgct	13	10	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:128354060G>A	ENST00000409816.2	+	18	2300	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	MYO7B_ENST00000389524.4_Silent_p.E756E|MYO7B_ENST00000428314.1_Silent_p.E756E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	756	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCTGCTGGAGGTACAGAGAA	0.637																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2266-2268)gaG>gaA		myosin VIIB							44	49	48					2																	128354060		1964	4165	6129	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128354060G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2268G>A	2.37:g.128354060G>A						MYO7B_ENST00000428314.1_Silent_p.E756E|MYO7B_ENST00000409816.2_Silent_p.E756E	p.E756E			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	19	2321	+	Colorectal(110;0.1)		756			IQ 1.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2268G>A	CCDS46405.1																																																																																				0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		4	79	0	0	0	1	0	4	79					A	128354060	G	A	128354060	2	1	43	1	0	0	0	0	0	0	0	1	10124	991	35	2		2	MYO7B	2	128354060	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	53874646	128354060	114845313	18	4979											
MBD5	55777	broad.mit.edu	37	chr2	149227347	149227347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgttgccggcagtgGcaacactgaaggacatagca	14	9	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:149227347G>A	ENST00000407073.1	+	9	2832	c.1835G>A	c.(1834-1836)gGc>gAc	p.G612D	MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	612					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCGGCAGTGGCAACACTGAA	0.488																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(1834-1836)gGc>gAc		methyl-CpG binding domain protein 5							124	115	118					2																	149227347		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227347G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1835G>A	2.37:g.149227347G>A	ENSP00000386049:p.Gly612Asp					MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2832	+			612					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1835G>A	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.069142|3.069142	0.55539|0.55539	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.49432	.|0.79;0.78	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.64402	.|D	.|0.000019	T|T	0.50222|0.50222	0.1603|0.1603	N|N	0.24115|0.24115	0.695|0.695	0.50039|0.50039	D|D	0.999846|0.999846	.|D;D	.|0.55172	.|0.97;0.969	.|P;P	.|0.57324	.|0.818;0.785	T|T	0.48559|0.48559	-0.9025|-0.9025	5|10	.|0.42905	.|T	.|0.14	-4.4542|-4.4542	16.6845|16.6845	0.85301|0.85301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|612;612	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	T|D	352|612	.|ENSP00000386049:G612D;ENSP00000384672:G612D	.|ENSP00000384672:G612D	A|G	+|+	1|2	0|0	MBD5|MBD5	148943817|148943817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.955000|6.955000	0.76007|0.76007	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			6	550	0	0	0	1	0	6	550					A	149227347	G	A	149227347	3	1	43	1	0	0	0	0	1	0	0	0	9388	1203	42	2	1849	2	MBD5	2	149227347	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	20873287	149227347	93972026	19	4980											
TTN	7273	broad.mit.edu	37	chr2	179640946	179640946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaaccttttgcttttgCggatgagctgtccattgagg	11	9	1	3	rs374605213		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:179640946C>T	ENST00000591111.1	-	28	5869	c.5645G>A	c.(5644-5646)cGc>cAc	p.R1882H	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1836H|TTN_ENST00000360870.5_Missense_Mutation_p.R1882H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1836H|TTN_ENST00000589042.1_Missense_Mutation_p.R1882H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1882H|TTN_ENST00000359218.5_Missense_Mutation_p.R1836H			Q8WZ42	TITIN_HUMAN	titin	12718	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTTTTGCGGATGAGCTG	0.502																																						ENST00000589042.1																			0				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						c.(5644-5646)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	272	246	255		5507,5645,5645,5507,5507	5.1	1	2		255	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1836/26927,1882/33424,1882/5605,1836/27052,1836/27119	179640946	2,13004	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640946C>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.5645G>A	2.37:g.179640946C>T	ENSP00000465570:p.Arg1882His					TTN_ENST00000591111.1_Missense_Mutation_p.R1882H|TTN_ENST00000342992.6_Missense_Mutation_p.R1882H|TTN_ENST00000342175.6_Missense_Mutation_p.R1836H|TTN_ENST00000360870.5_Missense_Mutation_p.R1882H|TTN_ENST00000359218.5_Missense_Mutation_p.R1836H|TTN_ENST00000460472.2_Missense_Mutation_p.R1836H	p.R1882H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5869	-			1597			Ig-like 9.		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.5645G>A		.	.	.	.	.	.	.	.	.	.	C	12.00	1.807927	0.31961	0.0	2.33E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68659	0.3025	L	0.39692	1.235	0.35803	D	0.823318	P;P;P;P;D	0.67145	0.641;0.641;0.641;0.783;0.996	B;B;B;B;P	0.50537	0.165;0.165;0.165;0.391;0.643	T	0.78265	-0.2271	9	0.87932	D	0	.	18.4992	0.90875	0.0:1.0:0.0:0.0	.	1836;1836;1836;1882;1882	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1882;1836;1836;1836;1836;1882	ENSP00000343764:R1882H;ENSP00000434586:R1836H;ENSP00000340554:R1836H;ENSP00000352154:R1836H;ENSP00000354117:R1882H	ENSP00000340554:R1836H	R	-	2	0	TTN	179349191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.052000	0.71080	2.382000	0.81193	0.604000	0.83254	CGC		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	922	0	0	0	1	0	7	922					T	179640946	C	T	179640946	3	4	43	1	0	0	0	0	1	0	0	0	16789	768	27	1	105683	1	TTN	2	179640946	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	30413599	179640946	63558427	20	4981											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		7	487						7	487	---	---	---	---	T	201437004	-	T	201437003	7	5	43	1	0	1	1	0	0	0	0	0	14267	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	21796057	201437003	41762370	21	4982											
STK16	8576	broad.mit.edu	37	chr2	220113194	220113194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgaccgtggacccGcatcagcgtcctcacattcc	9	15	2	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409743.1_Silent_p.P245P|TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409516.3_Silent_p.P159P|STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000396738.2_Silent_p.P277P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs35454203). {ECO:0000269|PubMed:17344846}.		cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(829-831)ccG>ccA		serine/threonine kinase 16							106	113	111					2																	220113194		2073	4207	6280	SO:0001819	synonymous_variant	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220113194G>A	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.831G>A	2.37:g.220113194G>A						STK16_ENST00000409516.3_Silent_p.P159P|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409260.1_Silent_p.P322P	p.P277P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1003	+		Renal(207;0.0474)	277		P -> L (in dbSNP:rs35454203).	Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Silent	SNP	ENST00000409638.3	37	c.831G>A	CCDS42822.1																																																																																				0.567	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			5	430	0	0	0	1	0	5	430					A	220113194	G	A	220113194	2	1	43	1	0	0	0	0	0	0	0	1	15341	1074	38	1		1	STK16	2	220113194	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	18676191	220113194	23086179	22	4983											
HDLBP	3069	broad.mit.edu	37	chr2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcaccttgcgaattttgCcgccccccttgccgatgagg	11	16	0	1	rs199968516		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170	158	162					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	496	0	0	0	1	0	6	496					T	242179464	C	T	242179464	3	4	43	1	0	0	0	0	1	0	0	0	7055	739	26	2	1607	2	HDLBP	2	242179464	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	22066270	242179464	1019909	23	4984											
QARS	5859	broad.mit.edu	37	chr3	49137511	49137511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctctgaaaacttgCccttgcgcattgcctgaggg	10	15	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:49137511C>T	ENST00000306125.6	-	14	1515	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.G382D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	393					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAAAACTTGCCCTTGCGCAT	0.552																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1177-1179)gGc>gAc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						146	134	138					3																	49137511		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137511C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1178G>A	3.37:g.49137511C>T	ENSP00000307567:p.Gly393Asp					QARS_ENST00000414533.1_Missense_Mutation_p.G382D	p.G393D			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	1515	-			393					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1178G>A	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839609	0.91117	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.25414	1.8;1.8	5.98	5.98	0.97165	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81055	-0.1106	10	0.87932	D	0	-20.433	20.0397	0.97574	0.0:1.0:0.0:0.0	.	382;393	B4DWJ2;P47897	.;SYQ_HUMAN	D	393;382	ENSP00000307567:G393D;ENSP00000390015:G382D	ENSP00000307567:G393D	G	-	2	0	QARS	49112515	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.833000	0.97629	0.655000	0.94253	GGC		0.552	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		5	312	0	0	0	1	0	5	312					T	49137511	C	T	49137511	3	4	43	1	0	0	0	0	1	0	0	0	12921	739	26	2	1193	2	QARS	3	49137511	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		49137511	148884919	24	4985											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		5	289	0	0	0	1	0	5	289					T	65425585	C	T	65425585	2	4	43	1	0	0	0	0	0	0	0	1	9231	796	28	2		2	MAGI1	3	65425585	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	16288074	65425585	132596845	25	4986											
TXK	7294	broad.mit.edu	37	chr4	48114421	48114421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattacagggttctctggGcagaaaatcataaagtgcct	9	7	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:48114421G>A	ENST00000264316.4	-	4	368	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	TXK_ENST00000510457.1_5'UTR|RNU6-868P_ENST00000517241.1_RNA	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	95	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGTTCTCTGGGCAGAAAATCA	0.502																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(283-285)Ccc>Tcc		TXK tyrosine kinase							167	171	170					4																	48114421		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48114421G>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.283C>T	4.37:g.48114421G>A	ENSP00000264316:p.Pro95Ser					TXK_ENST00000510457.1_5'UTR	p.P95S	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			4	368	-			95			SH3.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.283C>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813681	0.70912	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.48201	0.82;0.82	5.12	5.12	0.69794	Src homology-3 domain (4);	0.083055	0.47852	D	0.000215	T	0.59101	0.2169	L	0.55743	1.74	0.80722	D	1	P;P	0.52692	0.955;0.952	P;P	0.60541	0.876;0.685	T	0.52917	-0.8511	10	0.31617	T	0.26	.	13.9414	0.64057	0.0:0.0:1.0:0.0	.	95;95	E7EQN8;P42681	.;TXK_HUMAN	S	95	ENSP00000264316:P95S;ENSP00000422798:P95S	ENSP00000264316:P95S	P	-	1	0	TXK	47809178	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.572000	0.45999	2.681000	0.91329	0.563000	0.77884	CCC		0.502	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		80	447	0	0	0	1	0	80	447					A	48114421	G	A	48114421	3	1	43	1	0	0	0	0	1	0	0	0	16840	1203	42	2	1348	2	TXK	4	48114421	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		48114421	143039855	26	4987											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	242						8	242	---	---	---	---	-	56304532	CTG	-	56304530	7	5	43	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-F2-A7TX-01A-33D-A38G-08	8190109	56304530	134849746	27	4988											
NUDT6	11162	broad.mit.edu	37	chr4	123843664	123843664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaacccgccgaagGcccggggccgtaggttcggg	17	14	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:123843664G>T	ENST00000304430.5	-	1	97	c.64C>A	c.(64-66)Cct>Act	p.P22T	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	22						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCGCCGAAGGCCCGGGGCCG	0.682																																						ENST00000304430.5																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(64-66)Cct>Act		nudix (nucleoside diphosphate linked moiety X)-type motif 6							14	18	17					4																	123843664		1883	4051	5934	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843664G>T	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.64C>A	4.37:g.123843664G>T	ENSP00000306070:p.Pro22Thr					NUDT6_ENST00000339154.2_Intron	p.P22T	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN			1	97	-			22					A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.64C>A	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689167	0.29962	.	.	ENSG00000170917	ENST00000304430	T	0.21543	2.0	3.97	0.0578	0.14325	.	1.142310	0.06669	N	0.765837	T	0.09598	0.0236	N	0.08118	0	0.09310	N	0.999995	B	0.11235	0.004	B	0.09377	0.004	T	0.36212	-0.9757	10	0.23891	T	0.37	-1.8931	4.3631	0.11211	0.3094:0.1653:0.5254:0.0	.	22	P53370	NUDT6_HUMAN	T	22	ENSP00000306070:P22T	ENSP00000306070:P22T	P	-	1	0	NUDT6	124063114	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.141000	0.11374	-0.467000	0.05162	CCT		0.682	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		12	88	1	0	4.36969e-10	1	4.85036e-10	12	88					T	123843664	G	T	123843664	3	4	43	1	0	0	0	0	1	0	0	0	10785	1203	42	3	906	3	NUDT6	4	123843664	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	67539134	123843664	67310612	28	4989											
FHDC1	85462	broad.mit.edu	37	chr4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-													tagattttttctgtgaagacAaaaaaaccatgaaactggat							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aaafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1309-1311)aafs		FH2 domain containing 1							98	101	100					4																	153893619		2203	4300	6503	SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893619delA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1309delA	4.37:g.153893619delA	ENSP00000427567:p.Lys438fs					FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs	p.K438fs			Q9C0D6	FHDC1_HUMAN			11	1497	+	all_hematologic(180;0.093)		438			FH2.			Frame_Shift_Del	DEL	ENST00000511601.1	37	c.1309delA	CCDS34081.1																																																																																				0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	584						7	584	---	---	---	---	-	153893619	A	-	153893619	7	5	43	1	0	1	0	1	0	0	0	0	5901	131	5	0	1347	0	FHDC1	4	153893619	Frame_Shift_Del	DEL	A	TCGA-F2-A7TX-01A-33D-A38G-08	30049955	153893619	37260657	29	4990											
DNAH5	1767	broad.mit.edu	37	chr5	13811871	13811871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgatacaagtctgggaaaGactcggtgtacagctgacga	13	8	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:13811871G>A	ENST00000265104.4	-	44	7396	c.7292C>T	c.(7291-7293)tCt>tTt	p.S2431F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2431	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGAAAGACTCGGTGTA	0.428									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7291-7293)tCt>tTt		dynein, axonemal, heavy chain 5							92	89	90					5																	13811871		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13811871G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7292C>T	5.37:g.13811871G>A	ENSP00000265104:p.Ser2431Phe						p.S2431F	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			44	7396	-	Lung NSC(4;0.00476)		2431			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7292C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	4.470	0.087128	0.08583	.	.	ENSG00000039139	ENST00000265104	T	0.22945	1.93	5.78	4.9	0.64082	.	0.168536	0.53938	D	0.000044	T	0.30885	0.0779	M	0.74647	2.275	0.58432	D	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.12604	-1.0541	10	0.16896	T	0.51	.	16.0245	0.80532	0.0:0.0:0.8645:0.1355	.	2431	Q8TE73	DYH5_HUMAN	F	2431	ENSP00000265104:S2431F	ENSP00000265104:S2431F	S	-	2	0	DNAH5	13864871	1.000000	0.71417	0.799000	0.32177	0.128000	0.20619	7.880000	0.87243	1.403000	0.46800	0.650000	0.86243	TCT		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		34	341	0	0	0	1	0	34	341					A	13811871	G	A	13811871	3	1	43	1	0	0	0	0	1	0	0	0	4620	942	33	2	6726	2	DNAH5	5	13811871	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		13811871	167103389	30	4991											
SLC1A3	6507	broad.mit.edu	37	chr5	36608640	36608640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgcagaacattacaaagGaggatgttaaaagttacctg	10	5	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:36608640G>A	ENST00000265113.4	+	2	591	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	39					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTACAAAGGAGGATGTTAA	0.453																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(115-117)Gag>Aag		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						185	185	185					5																	36608640		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608640G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.115G>A	5.37:g.36608640G>A	ENSP00000265113:p.Glu39Lys					SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K	p.E39K	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	591	+	all_lung(31;0.000245)		39					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.115G>A	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517899	0.64634	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.55588	0.51;1.91;1.91;1.91;0.51	5.69	5.69	0.88448	.	0.244001	0.42548	D	0.000695	T	0.35711	0.0941	N	0.08118	0	0.39293	D	0.964762	B;B	0.12013	0.002;0.005	B;B	0.11329	0.003;0.006	T	0.19745	-1.0296	10	0.18710	T	0.47	-22.2818	19.812	0.96551	0.0:0.0:1.0:0.0	.	39;39	Q4JCQ8;P43003	.;EAA1_HUMAN	K	39	ENSP00000265113:E39K;ENSP00000427203:E39K;ENSP00000424986:E39K;ENSP00000420992:E39K;ENSP00000371343:E39K	ENSP00000265113:E39K	E	+	1	0	SLC1A3	36644397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.685000	0.91497	0.655000	0.94253	GAG		0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		122	684	0	0	0	1	0	122	684					A	36608640	G	A	36608640	3	1	43	1	0	0	0	0	1	0	0	0	14483	1175	41	2	117	2	SLC1A3	5	36608640	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	22796769	36608640	144306620	31	4992											
ZNF366	167465	broad.mit.edu	37	chr5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccagcacctcgggggCgtgctccgacttggtggaca	13	14	0	0	rs112462947	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:71739855C>T	ENST00000318442.5	-	5	2453	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	655	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1963-1965)Gcc>Acc		zinc finger protein 366		C	THR/ALA	3,4403	8.1+/-20.4	0,3,2200	139	144	142		1963	4.1	0	5	dbSNP_132	142	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	655/745	71739855	3,13003	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739855C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1963G>A	5.37:g.71739855C>T	ENSP00000313158:p.Ala655Thr						p.A655T	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2453	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	655					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1963G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943458	0.34283	6.81E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.87	4.08	0.47627	.	1.645490	0.02889	N	0.133862	T	0.04679	0.0127	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38329	-0.9666	10	0.15499	T	0.54	-1.5779	7.1067	0.25368	0.0:0.6577:0.1261:0.2163	.	655	Q8N895	ZN366_HUMAN	T	655	ENSP00000313158:A655T	ENSP00000313158:A655T	A	-	1	0	ZNF366	71775611	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.255000	0.18333	0.919000	0.36945	0.655000	0.94253	GCC		0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			10	649	0	0	0	1	0	10	649					T	71739855	C	T	71739855	3	4	43	1	0	0	0	0	1	0	0	0	17923	768	27	1	275	1	ZNF366	5	71739855	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	35131215	71739855	109175405	32	4993											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720414	140720414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgcacacgggcgagGtgcgcacggcgcgagccctg	18	13	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:140720414G>A	ENST00000394576.2	+	1	1876	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.V626L(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1876-1878)Gtg>Atg									35	42	40					5																	140720414		2194	4286	6480	SO:0001583	missense	0							g.chr5:140720414G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1876G>A	5.37:g.140720414G>A	ENSP00000378077:p.Val626Met					PCDHGA1_ENST00000517417.1_Intron	p.V626M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1876	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1876G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.094710	0.36952	.	.	ENSG00000081853	ENST00000394576	T	0.55930	0.49	5.14	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.553780	0.13797	U	0.362080	T	0.64724	0.2624	M	0.65677	2.01	0.25520	N	0.987372	D;D	0.76494	0.99;0.999	D;D	0.72338	0.923;0.977	T	0.52578	-0.8557	10	0.87932	D	0	.	4.7999	0.13292	0.2293:0.1939:0.5767:0.0	.	626;626	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	626	ENSP00000378077:V626M	ENSP00000378077:V626M	V	+	1	0	PCDHGA2	140700598	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	2.136000	0.42121	1.315000	0.45114	0.485000	0.47835	GTG		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		83	379	0	0	0	1	0	83	379					A	140720414	G	A	140720414	3	1	43	1	0	0	0	0	1	0	0	0	11596	1261	44	2	1878	2	PCDHGA2	5	140720414	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	68980559	140720414	40194846	33	4994											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	429						7	429	---	---	---	---	-	176301304	CAC	-	176301302	7	5	43	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-F2-A7TX-01A-33D-A38G-08	35580888	176301302	4613958	34	4995											
UBR2	23304	broad.mit.edu	37	chr6	42620364	42620364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acataatggatatgcctggtCagagtccatgctgcaaaggg	12	8	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:42620364C>T	ENST00000372899.1	+	25	3008	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	UBR2_ENST00000372883.3_Missense_Mutation_p.S421L|UBR2_ENST00000372901.1_Missense_Mutation_p.S917L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	917					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATGCCTGGTCAGAGTCCATG	0.373																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2749-2751)tCa>tTa		ubiquitin protein ligase E3 component n-recognin 2							146	131	136					6																	42620364		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620364C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2750C>T	6.37:g.42620364C>T	ENSP00000361990:p.Ser917Leu					UBR2_ENST00000372883.3_Missense_Mutation_p.S421L|UBR2_ENST00000372899.1_Missense_Mutation_p.S917L	p.S917L			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	3008	+	Colorectal(47;0.196)		917					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2750C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751128	0.89753	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.58797	0.31;0.31;0.31	5.52	5.52	0.82312	.	0.061971	0.64402	D	0.000002	T	0.66886	0.2835	M	0.73962	2.25	0.80722	D	1	P;D	0.62365	0.95;0.991	P;P	0.56127	0.487;0.792	T	0.68284	-0.5449	10	0.49607	T	0.09	-15.9844	19.4267	0.94743	0.0:1.0:0.0:0.0	.	917;917	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	L	917;917;421	ENSP00000361990:S917L;ENSP00000361992:S917L;ENSP00000361974:S421L	ENSP00000361974:S421L	S	+	2	0	UBR2	42728342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.084000	0.76866	2.582000	0.87167	0.655000	0.94253	TCA		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		125	322	0	0	0	1	0	125	322					T	42620364	C	T	42620364	3	4	43	1	0	0	0	0	1	0	0	0	16956	838	29	2	2994	2	UBR2	6	42620364	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		42620364	128494703	35	4996											
FYN	2534	broad.mit.edu	37	chr6	111983042	111983042	+	Frame_Shift_Del	DEL	T	T	-													tggggcgttcttcagggtccTttttccagcagtggatcatg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:111983042delT	ENST00000354650.3	-	14	2120	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1513-1515)agfs		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						150	156	154					6																	111983042		2203	4300	6503	SO:0001589	frameshift_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983042delT	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1514delA	6.37:g.111983042delT	ENSP00000346671:p.Lys505fs					FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs	p.K505fs	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	14	2120	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	505			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Frame_Shift_Del	DEL	ENST00000354650.3	37	c.1514delA	CCDS5094.1																																																																																				0.562	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			7	804						7	804	---	---	---	---	-	111983042	T	-	111983042	7	5	43	1	0	1	0	1	0	0	0	0	6153	1609	56	0	103	0	FYN	6	111983042	Frame_Shift_Del	DEL	T	TCGA-F2-A7TX-01A-33D-A38G-08	69362678	111983042	59132025	36	4997											
SYNE1	23345	broad.mit.edu	37	chr6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctgttcttccagccGcatgctggctgatttccatt	7	12	3	1	rs202017153	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCAGCCGCATGCTGGCT	0.478										HNSCC(10;0.0054)			G|||	2	0.000399361	0.0	0.0	5008	,	,		17907	0.002		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22978-22980)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							75	73	74					6																	152527344		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527344G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22978C>T	6.37:g.152527344G>A	ENSP00000356224:p.Arg7660Trp	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W	p.R7660W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23579	-		Ovarian(120;0.0955)	7660					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22978C>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645098	0.29246	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.51	-2.62	0.06152	.	0.910031	0.09366	N	0.811992	T	0.25232	0.0613	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.67145	0.994;0.994;0.996;0.994	P;P;P;P	0.55824	0.487;0.487;0.785;0.614	T	0.10337	-1.0634	10	0.59425	D	0.04	.	4.8395	0.13483	0.3197:0.0:0.3036:0.3767	.	7660;7660;7589;7589	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7660;306;7589;7660;7589;7272;2184;582	ENSP00000356224:R7660W;ENSP00000356226:R306W;ENSP00000396024:R7589W;ENSP00000265368:R7660W;ENSP00000390975:R7589W;ENSP00000341887:R7272W;ENSP00000349276:R2184W;ENSP00000356220:R582W	ENSP00000265368:R7660W	R	-	1	2	SYNE1	152569037	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.089000	0.15002	-0.469000	0.06911	-0.293000	0.09583	CGG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	331	0	0	0	1	0	6	331					A	152527344	G	A	152527344	3	1	43	1	0	0	0	0	1	0	0	0	15497	1086	38	1	3572	1	SYNE1	6	152527344	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	40544302	152527344	18587723	37	4998											
CYP2W1	54905	broad.mit.edu	37	chr7	1026862	1026862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcacttctgatgggCcggcacccggacgtgcaggg	17	13	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:1026862C>T	ENST00000308919.7	+	6	952	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CYP2W1_ENST00000340150.6_Silent_p.G257G	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	313					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TTCTGATGGGCCGGCACCCGG	0.716																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(769-771)ggC>ggT		cytochrome P450, family 2, subfamily W, polypeptide 1							9	11	11					7																	1026862		2104	4141	6245	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026862C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.939C>T	7.37:g.1026862C>T						CYP2W1_ENST00000308919.7_Silent_p.G313G	p.G257G			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	6	793	+		Ovarian(82;0.0112)	313						Silent	SNP	ENST00000308919.7	37	c.771C>T	CCDS5319.2																																																																																				0.716	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		3	17	0	0	0	1	0	3	17					T	1026862	C	T	1026862	2	4	43	1	0	0	0	0	0	0	0	1	4187	726	26	2		2	CYP2W1	7	1026862	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		1026862	158111801	38	4999											
DNAH11	8701	broad.mit.edu	37	chr7	21611423	21611423	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactgtgttttttacaaaGgatatatttgccaccacttt	5	7	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:21611423G>T	ENST00000409508.3	+	8	1456		c.e8-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTACAAAGGATATATTTG	0.338									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e8-1		dynein, axonemal, heavy chain 11							71	65	67					7																	21611423		1795	4066	5861	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21611423G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1426-1G>T	7.37:g.21611423G>T						DNAH11_ENST00000409508.3_Splice_Site				Q96DT5	DYH11_HUMAN			8	1456	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	G	15.94	2.980317	0.53827	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.86	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9369	0.64029	0.074:0.0:0.926:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21577948	1.000000	0.71417	0.983000	0.44433	0.577000	0.36160	5.384000	0.66225	1.489000	0.48450	0.650000	0.86243	.		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	7	133	1	0	2.0095e-06	1	2.20846e-06	7	133					T	21611423	G	T	21611423	5	4	43	1	0	0	0	0	0	0	1	0	4615	1014	35	3	1455	3	DNAH11	7	21611423	Splice_Site	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	20584561	21611423	137527240	39	5000											
PCLO	27445	broad.mit.edu	37	chr7	82390037	82390038	+	Frame_Shift_Ins	INS	-	-	T													atcatgtctgcatactcttgINStttttttcttgatcaccttt							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:82390037_82390038insT	ENST00000333891.9	-	24	15542_15543	c.15205_15206insA	c.(15205-15207)acafs	p.T5069fs		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GCATACTCTTGTTTTTTTCTTG	0.332																																						ENST00000333891.8																			0				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						c.(15205-15207)aagfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390037_82390038insT	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.15206dupA	7.37:g.82390044_82390044dupT	ENSP00000334319:p.Thr5069fs						p.K5069fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			24	15542_15543	-			4992						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.15205_15206insA	CCDS47630.1																																																																																				0.332	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	177						15	177	---	---	---	---	T	82390038	-	T	82390037	7	5	43	1	0	1	1	0	0	0	0	0	11625	1377	48	0	230	0	PCLO	7	82390037	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	60778614	82390037	76748626	40	5001											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		8	976						8	976	---	---	---	---	-	99771554	C	-	99771554	7	5	43	1	0	1	0	1	0	0	0	0	6627	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-F2-A7TX-01A-33D-A38G-08	17381517	99771554	59367109	41	5002											
MLL5	55904	broad.mit.edu	37	chr7	104746087	104746088	+	Frame_Shift_Ins	INS	-	-	A													tacttcaccattcctttcagINSaaaaaaggagaagaaaagaa							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:104746087_104746088insA	ENST00000311117.3	+	18	2943_2944	c.2398_2399insA	c.(2398-2400)gaafs	p.E800fs	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.E800fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.E800fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	800					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATTCCTTTCAGAAAAAAGGAGA	0.366																																						ENST00000334877.4																			0											c.(2398-2400)aaafs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104746087_104746088insA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2404dupA	7.37:g.104746093_104746093dupA	ENSP00000312379:p.Glu800fs					KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.K800fs|KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.K800fs|KMT2E_ENST00000334914.7_5'UTR	p.K800fs							18	2932_2933	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.2398_2399insA	CCDS34723.1																																																																																				0.366	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			53	355						53	355	---	---	---	---	A	104746088	-	A	104746087	7	5	43	1	0	1	1	0	0	0	0	0	9665	943	33	0	2460	0	MLL5	7	104746087	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	4974533	104746087	54392576	42	5003											
ASZ1	136991	broad.mit.edu	37	chr7	117008694	117008694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttacaggtaactcagtaAtaacattctgtacagctgtt	6	7	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:117008694A>G	ENST00000284629.2	-	11	1195	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAACTCAGTAATAACATTCTG	0.308																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1132-1134)aTt>aCt		ankyrin repeat, SAM and basic leucine zipper domain containing 1							99	107	104					7																	117008694		2202	4292	6494	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117008694A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1133T>C	7.37:g.117008694A>G	ENSP00000284629:p.Ile378Thr						p.I378T	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		11	1195	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		378						Missense_Mutation	SNP	ENST00000284629.2	37	c.1133T>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166072	0.57476	.	.	ENSG00000154438	ENST00000284629	T	0.29917	1.55	5.2	5.2	0.72013	.	0.287809	0.37437	N	0.002082	T	0.39009	0.1062	L	0.56769	1.78	0.35036	D	0.759246	D;D	0.58970	0.984;0.984	P;P	0.53360	0.724;0.724	T	0.50833	-0.8781	10	0.29301	T	0.29	-0.4577	9.8129	0.40835	0.745:0.0:0.0:0.255	.	378;378	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	378	ENSP00000284629:I378T	ENSP00000284629:I378T	I	-	2	0	ASZ1	116795930	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.628000	0.46477	2.102000	0.63906	0.459000	0.35465	ATT		0.308	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		5	589	0	0	0	1	0	5	589					G	117008694	A	G	117008694	3	3	43	1	0	0	0	0	1	0	0	0	1070	101	4	4	306	4	ASZ1	7	117008694	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	12262607	117008694	42129969	43	5004											
HNF4G	3174	broad.mit.edu	37	chr8	76459877	76459877	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaatcaatgtagatattgtCgattaagaaagtgttttaga	10	2	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:76459877C>A	ENST00000354370.1	+	4	472	c.202C>A	c.(202-204)Cga>Aga	p.R68R	HNF4G_ENST00000396423.2_Silent_p.R105R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	68					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGATATTGTCGATTAAGAAA	0.294																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(313-315)Cga>Aga		hepatocyte nuclear factor 4, gamma							134	136	135					8																	76459877		2203	4299	6502	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76459877C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.202C>A	8.37:g.76459877C>A						HNF4G_ENST00000354370.1_Silent_p.R68R	p.R105R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		3	437	+	Breast(64;0.0448)		68					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.313C>A																																																																																					0.294	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		5	529	1	0	0.014758	1	0.0154541	5	529					A	76459877	C	A	76459877	2	1	43	1	0	0	0	0	0	0	0	1	7284	876	31	3		3	HNF4G	8	76459877	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		76459877	69904145	44	5005											
FAM135B	51059	broad.mit.edu	37	chr8	139209792	139209792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctctgggatgtcccGcatgatcaccaggaagtgga	14	10	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139209792G>A	ENST00000395297.1	-	8	960	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	264										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGATGTCCCGCATGATCACC	0.622										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(790-792)Cgg>Tgg		family with sequence similarity 135, member B							57	65	62					8																	139209792		2139	4258	6397	SO:0001583	missense	51059							g.chr8:139209792G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.790C>T	8.37:g.139209792G>A	ENSP00000378710:p.Arg264Trp	HNSCC(54;0.14)					p.R264W	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	960	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		264					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.790C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335664	0.60853	.	.	ENSG00000147724	ENST00000395297	T	0.79554	-1.28	4.74	0.945	0.19543	.	0.242007	0.40818	N	0.001010	T	0.73552	0.3601	L	0.44542	1.39	0.34180	D	0.670854	D	0.61697	0.99	P	0.44477	0.451	T	0.78529	-0.2169	10	0.72032	D	0.01	-13.6729	11.2554	0.49050	0.0:0.0:0.6066:0.3934	.	264	Q49AJ0	F135B_HUMAN	W	264	ENSP00000378710:R264W	ENSP00000276737:R264W	R	-	1	2	FAM135B	139278974	0.999000	0.42202	0.998000	0.56505	0.628000	0.37860	0.437000	0.21543	0.002000	0.14630	-0.309000	0.09137	CGG		0.622	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	253	0	0	0	1	0	4	253					A	139209792	G	A	139209792	3	1	43	1	0	0	0	0	1	0	0	0	5470	1086	38	1	3482	1	FAM135B	8	139209792	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	62749915	139209792	7154230	45	5006											
FAM135B	51059	broad.mit.edu	37	chr8	139380170	139380170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgaaagagatccacAttataaaatttatgtagctc	5	9	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139380170A>T	ENST00000395297.1	-	2	227	c.57T>A	c.(55-57)aaT>aaA	p.N19K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	19										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGATCCACATTATAAAATT	0.378										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(55-57)aaT>aaA		family with sequence similarity 135, member B							139	132	134					8																	139380170		1862	4104	5966	SO:0001583	missense	51059							g.chr8:139380170A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.57T>A	8.37:g.139380170A>T	ENSP00000378710:p.Asn19Lys	HNSCC(54;0.14)					p.N19K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	227	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		19					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.57T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982567	0.74474	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.49720	0.77	5.54	1.82	0.25136	.	0.000000	0.56097	U	0.000024	T	0.58424	0.2121	M	0.83774	2.66	0.43683	D	0.996128	D	0.59767	0.986	P	0.53266	0.722	T	0.62081	-0.6929	10	0.87932	D	0	-4.8353	8.7599	0.34667	0.7748:0.0:0.2252:0.0	.	19	Q49AJ0	F135B_HUMAN	K	19	ENSP00000378710:N19K	ENSP00000160713:N19K	N	-	3	2	FAM135B	139449352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.914000	0.56401	0.460000	0.27045	0.459000	0.35465	AAT		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		68	353	0	0	0	1	0	68	353					T	139380170	A	T	139380170	3	4	43	1	0	0	0	0	1	0	0	0	5470	214	8	5	4239	5	FAM135B	8	139380170	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	170378	139380170	6983852	46	5007											
OR13C2	392376	broad.mit.edu	37	chr9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcagaaaaaattccaccaGaatggtgtggttttcccatt	7	9	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373																																						ENST00000542196.1																			1	Substitution - Missense(1)	p.L9V(1)	cervix(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctg>Gtg		olfactory receptor, family 13, subfamily C, member 2							47	52	50					9																	107367884		2195	4299	6494	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367884G>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val						p.L9V	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	67	-			9					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.25C>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		20	304	0	0	0	1	0	20	304					C	107367884	G	C	107367884	3	2	43	1	0	0	0	0	1	0	0	0	10976	933	33	5	934	5	OR13C2	9	107367884	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		107367884	33845547	47	5008											
OR1N2	138882	broad.mit.edu	37	chr9	125315996	125315997	+	Frame_Shift_Ins	INS	-	-	G													acactgttgctgacccgcgtINSggctttctgtgcccagaaag							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:125315996_125315997insG	ENST00000373688.2	+	1	606_607	c.548_549insG	c.(547-552)gtggctfs	p.A184fs		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACCCGCGTGGCTTTCTGTG	0.525																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(547-549)ggcfs		olfactory receptor, family 1, subfamily N, member 2																																				SO:0001589	frameshift_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315996_125315997insG		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.550dupG	9.37:g.125315998_125315998dupG	ENSP00000362792:p.Ala184fs						p.G183fs	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	606_607	+			183					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Frame_Shift_Ins	INS	ENST00000373688.2	37	c.548_549insG	CCDS35123.1																																																																																				0.525	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			7	348						7	348	---	---	---	---	G	125315997	-	G	125315996	7	5	43	1	0	1	1	0	0	0	0	0	11012	1696	59	0	550	0	OR1N2	9	125315996	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	17948112	125315996	15897435	48	5009											
RXRA	6256	broad.mit.edu	37	chr9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcctgccggctctgcgctCcatcgggctcaaatgcctgg	12	17	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000540193.1_Missense_Mutation_p.S330F|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(988-990)tCc>tTc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132	117	122					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.S427F	p.S330F			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	9	1912	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.989C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		92	275	0	0	0	1	0	92	275					T	137328351	C	T	137328351	3	4	43	1	0	0	0	0	1	0	0	0	13813	855	30	2	1318	2	RXRA	9	137328351	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	12012355	137328351	3885080	49	5010											
CAMK1D	57118	broad.mit.edu	37	chr10	12870810	12870810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtttcatttcttcttcgtCgggggtctcaggagttggag	13	7	4	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:12870810C>T	ENST00000378847.3	+	11	1419	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	361	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTCTTCGTCGGGGGTCTCA	0.592																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1081-1083)tCg>tTg		calcium/calmodulin-dependent protein kinase ID							70	68	69					10																	12870810		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12870810C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1082C>T	10.37:g.12870810C>T	ENSP00000368124:p.Ser361Leu						p.S361L	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	11	1419	+			361			Ser-rich.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1082C>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260463	0.59431	.	.	ENSG00000183049	ENST00000378847	T	0.68479	-0.33	5.39	5.39	0.77823	.	0.318671	0.30695	N	0.009065	T	0.52240	0.1722	N	0.22421	0.69	0.80722	D	1	B	0.30634	0.288	B	0.19148	0.024	T	0.54476	-0.8288	10	0.51188	T	0.08	-3.006	16.3016	0.82820	0.0:1.0:0.0:0.0	.	361	Q8IU85	KCC1D_HUMAN	L	361	ENSP00000368124:S361L	ENSP00000368124:S361L	S	+	2	0	CAMK1D	12910816	0.995000	0.38212	0.026000	0.17262	0.974000	0.67602	5.608000	0.67654	2.518000	0.84900	0.655000	0.94253	TCG		0.592	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		35	416	0	0	0	1	0	35	416					T	12870810	C	T	12870810	3	4	43	1	0	0	0	0	1	0	0	0	2604	893	31	1	1159	1	CAMK1D	10	12870810	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		12870810	122663937	50	5011											
OLAH	55301	broad.mit.edu	37	chr10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-													tccaggataaaccatttgcaTtttttggccacaggtatttg					rs138615083	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:15103848delT	ENST00000378228.3	+	4	543	c.289delT	c.(289-291)tttfs	p.F98fs	OLAH_ENST00000378217.3_Frame_Shift_Del_p.F151fs	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ACCATTTGCATTTTTTGGCCA	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(448-450)ttfs		oleoyl-ACP hydrolase							154	152	152					10																	15103848		2203	4300	6503	SO:0001589	frameshift_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103848delT	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.289delT	10.37:g.15103848delT	ENSP00000367473:p.Phe98fs					OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	p.F151fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	635	+			98					Q5VUB6|Q9NUW1	Frame_Shift_Del	DEL	ENST00000378228.3	37	c.448delT	CCDS31152.1																																																																																				0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		7	868						7	868	---	---	---	---	-	15103848	T	-	15103848	7	5	43	1	0	1	0	1	0	0	0	0	10893	1493	52	0	462	0	OLAH	10	15103848	Frame_Shift_Del	DEL	T	TCGA-F2-A7TX-01A-33D-A38G-08	2233038	15103848	120430899	51	5012											
SLC25A28	81894	broad.mit.edu	37	chr10	101371028	101371028	+	Frame_Shift_Del	DEL	A	A	-													ctgggtggtgtagctgcggtAaaaggccccggccccttcat							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:101371028delA	ENST00000370495.4	-	4	701	c.673delT	c.(673-675)tacfs	p.Y225fs	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	225					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TAGCTGCGGTAAAAGGCCCCG	0.532																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(673-675)acfs		solute carrier family 25 (mitochondrial iron transporter), member 28							69	71	71					10																	101371028		2025	4168	6193	SO:0001589	frameshift_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101371028delA	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.673delT	10.37:g.101371028delA	ENSP00000359526:p.Tyr225fs					SLC25A28_ENST00000496035.1_5'UTR	p.Y225fs	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	701	-		Colorectal(252;0.234)	225					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Frame_Shift_Del	DEL	ENST00000370495.4	37	c.673delT	CCDS41559.1																																																																																				0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		7	392						7	392	---	---	---	---	-	101371028	A	-	101371028	7	5	43	1	0	1	0	1	0	0	0	0	14541	362	13	0	425	0	SLC25A28	10	101371028	Frame_Shift_Del	DEL	A	TCGA-F2-A7TX-01A-33D-A38G-08	86267180	101371028	34163719	52	5013											
ABLIM1	3983	broad.mit.edu	37	chr10	116307515	116307515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcctgcccattcttgatatCtcttccgcagccggcacaat	7	16	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:116307515C>G	ENST00000277895.5	-	5	791	c.694G>C	c.(694-696)Gat>Cat	p.D232H	ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H|ABLIM1_ENST00000533213.2_Missense_Mutation_p.D172H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	232	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCTTGATATCTCTTCCGCAG	0.537																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(514-516)Gat>Cat		actin binding LIM protein 1							36	36	36					10																	116307515		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307515C>G	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.694G>C	10.37:g.116307515C>G	ENSP00000277895:p.Asp232His					ABLIM1_ENST00000277895.5_Missense_Mutation_p.D232H|ABLIM1_ENST00000533213.2_Missense_Mutation_p.D172H	p.D172H	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	815	-		Colorectal(252;0.0373)|Breast(234;0.231)	232			LIM zinc-binding 2.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.514G>C	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.080432|5.080432	0.94050|0.94050	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955	D;D;D|.	0.87412|.	-2.25;-2.25;-2.25|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.11756|0.11756	0.17|0.17	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;0.98;0.997|.	D;D;D;D;D;D|.	0.91635|.	0.989;0.999;0.993;0.99;0.931;0.95|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.87932|.	D|.	0|.	.|.	19.7538|19.7538	0.96281|0.96281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;172;172;232;172;156|.	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4|.	.;.;.;ABLM1_HUMAN;.;.|.	H|D	232;172;172;172;232;156;156;156;232|140	ENSP00000358256:D172H;ENSP00000433629:D172H;ENSP00000277895:D232H|.	ENSP00000277895:D232H|.	D|E	-|-	1|3	0|2	ABLIM1|ABLIM1	116297505|116297505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.930000|0.930000	0.56654|0.56654	7.640000|7.640000	0.83355|0.83355	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			58	132	0	0	0	1	0	58	132					G	116307515	C	G	116307515	3	3	43	1	0	0	0	0	1	0	0	0	94	913	32	5	1802	5	ABLIM1	10	116307515	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	14936487	116307515	19227232	53	5014											
TRIM68	55128	broad.mit.edu	37	chr11	4623634	4623634	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactctgttttcgggtttcCacctgtatctgtggagccaa	9	10	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:4623634C>A	ENST00000300747.5	-	4	820	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	177					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCGGGTTTCCACCTGTATCT	0.463																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(529-531)gtG>gtT		tripartite motif containing 68							58	58	58					11																	4623634		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623634C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.531G>T	11.37:g.4623634C>A							p.V177V	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	820	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	177					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.531G>T	CCDS31356.1																																																																																				0.463	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		8	238	1	0	0.0692343	1	0.0718225	8	238					A	4623634	C	A	4623634	2	1	43	1	0	0	0	0	0	0	0	1	16594	581	21	3		3	TRIM68	11	4623634	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		4623634	130382882	54	5015											
ADM	133	broad.mit.edu	37	chr11	10327978	10327978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcttcgggacgtgcacGgtgcagaagctggcacacca	14	13	0	1	rs367972567		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:10327978G>A	ENST00000528655.1	+	3	965	c.348G>A	c.(346-348)acG>acA	p.T116T	ADM_ENST00000534464.1_Silent_p.T69T|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000525063.1_Silent_p.T116T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000526492.1_Missense_Mutation_p.G127S|ADM_ENST00000530439.1_Silent_p.T48T			P35318	ADML_HUMAN	adrenomedullin	116					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GGACGTGCACGGTGCAGAAGC	0.642																																						ENST00000526492.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(379-381)Ggt>Agt		adrenomedullin							35	36	36					11																	10327978		2201	4294	6495	SO:0001819	synonymous_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327978G>A	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.348G>A	11.37:g.10327978G>A						ADM_ENST00000528655.1_Silent_p.T116T|ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000525063.1_Silent_p.T116T	p.G127S			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	4	542	+			0					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.379G>A	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354363	0.41700	.	.	ENSG00000148926	ENST00000526492	T	0.38887	1.11	5.58	-8.42	0.00957	.	.	.	.	.	T	0.33059	0.0850	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.51044	-0.8755	6	0.87932	D	0	-19.2336	5.6872	0.17809	0.2155:0.3914:0.3179:0.0752	.	.	.	.	S	127	ENSP00000434354:G127S	ENSP00000434354:G127S	G	+	1	0	ADM	10284554	0.101000	0.21875	0.568000	0.28447	0.908000	0.53690	-1.312000	0.02720	-1.324000	0.02272	-1.567000	0.00876	GGT		0.642	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		4	180	0	0	0	1	0	4	180					A	10327978	G	A	10327978	2	1	43	1	0	0	0	0	0	0	0	1	321	1103	39	1		1	ADM	11	10327978	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	5704344	10327978	124678538	55	5016											
MTNR1B	4544	broad.mit.edu	37	chr11	92715454	92715454	+	Silent	SNP	G	G	A													gctccacccatcattggtgtGcagcaccaggcagatgctct							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715454G>A	ENST00000257068.2	+	2	1071	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCATTGGTGTGCAGCACCAGG	0.582																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1063-1065)gtG>gtA		melatonin receptor 1B	Ramelteon(DB00980)						41	44	43					11																	92715454		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715454G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1065G>A	11.37:g.92715454G>A							p.V355V	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	1071	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	355						Silent	SNP	ENST00000257068.2	37	c.1065G>A	CCDS8290.1																																																																																				0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			49	263	0	0	0	1	0	49	263					A	92715454	G	A	92715454	2	1	43	1	0	0	0	0	0	0	0	1	9993	1306	46	2		2	MTNR1B	11	92715454	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	82387476	92715454	42291062	56	5017	35	2									
MTNR1B	4544	broad.mit.edu	37	chr11	92715455	92715455	+	Nonsense_Mutation	SNP	C	C	T													ctccacccatcattggtgtgCagcaccaggcagatgctctc							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715455C>T	ENST00000257068.2	+	2	1072	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	356					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CATTGGTGTGCAGCACCAGGC	0.587																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1066-1068)Cag>Tag		melatonin receptor 1B	Ramelteon(DB00980)						41	43	42					11																	92715455		2201	4298	6499	SO:0001587	stop_gained	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715455C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1066C>T	11.37:g.92715455C>T	ENSP00000257068:p.Gln356*						p.Q356*	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	1072	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	356						Nonsense_Mutation	SNP	ENST00000257068.2	37	c.1066C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057149	0.55325	.	.	ENSG00000134640	ENST00000257068	.	.	.	4.33	1.14	0.20703	.	0.742407	0.11795	N	0.528738	.	.	.	.	.	.	0.22903	N	0.998589	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	0.0638	5.3884	0.16229	0.3637:0.5314:0.0:0.1049	.	.	.	.	X	356	.	ENSP00000257068:Q356X	Q	+	1	0	MTNR1B	92355103	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.212000	0.17497	0.328000	0.23435	0.313000	0.20887	CAG		0.587	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			50	258	0	0	0	1	0	50	258					T	92715455	C	T	92715455	4	4	43	1	0	0	0	0	0	1	0	0	9993	711	25	2	1072	2	MTNR1B	11	92715455	Nonsense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	1	92715455	42291061	57	5018	35	2									
NPAT	4863	broad.mit.edu	37	chr11	108040579	108040579	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaaggcatatgaagaaCctggaagagaaaaagccatt	10	6	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:108040579C>T	ENST00000278612.8	-	15	3007	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I	NPAT_ENST00000610253.1_5'Flank	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	968					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATATGAAGAACCTGGAAGAGA	0.423																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.e15-1		nuclear protein, ataxia-telangiectasia locus							125	115	118					11																	108040579		1851	4092	5943	SO:0001630	splice_region_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108040579C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2902-1G>A	11.37:g.108040579C>T							p.V968_splice	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	15	3007	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	968					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Splice_Site	SNP	ENST00000278612.8	37	c.2901_splice	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568083	0.45798	.	.	ENSG00000149308	ENST00000278612	T	0.04758	3.56	5.39	4.48	0.54585	.	0.154045	0.43747	D	0.000523	T	0.07007	0.0178	M	0.66939	2.045	0.44890	D	0.997906	B	0.19583	0.037	B	0.19148	0.024	T	0.13791	-1.0496	10	0.33141	T	0.24	-6.2259	8.9418	0.35733	0.0:0.7759:0.0:0.2241	.	968	Q14207	NPAT_HUMAN	I	968	ENSP00000278612:V968I	ENSP00000278612:V968I	V	-	1	0	NPAT	107545789	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.857000	0.39399	1.408000	0.46895	-0.237000	0.12165	GTT		0.423	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	Missense_Mutation	40	427	0	0	0	1	0	40	427					T	108040579	C	T	108040579	5	4	43	1	0	0	0	0	0	0	1	0	10608	521	18	2	1397	2	NPAT	11	108040579	Splice_Site	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	15325124	108040579	26965937	58	5019											
TECTA	7007	broad.mit.edu	37	chr11	121023690	121023690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgactgcagccactactgCgtggagggctgtcactgcga	14	11	1	1	rs371771729		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:121023690C>T	ENST00000392793.1	+	13	4477	c.4206C>T	c.(4204-4206)tgC>tgT	p.C1402C	TECTA_ENST00000264037.2_Silent_p.C1402C			O75443	TECTA_HUMAN	tectorin alpha	1402	TIL 3.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCACTACTGCGTGGAGGGCT	0.622																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4204-4206)tgC>tgT		tectorin alpha		C		0,4406		0,0,2203	44	42	43		4206	-1.5	1	11		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1402/2156	121023690	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121023690C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4206C>T	11.37:g.121023690C>T						TECTA_ENST00000264037.2_Silent_p.C1402C	p.C1402C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4477	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1402			TIL 3.			Silent	SNP	ENST00000392793.1	37	c.4206C>T	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	156	0	0	0	1	0	8	156					T	121023690	C	T	121023690	2	4	43	1	0	0	0	0	0	0	0	1	15799	776	27	1		1	TECTA	11	121023690	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	12983111	121023690	13982826	59	5020											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		51	272	0	0	0	1	0	51	272					T	25398284	C	T	25398284	3	4	43	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		25398284	108453611	60	5021											
ANO6	196527	broad.mit.edu	37	chr12	45815050	45815050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgggtaaccataccaCatgcaggcaagttctgcttt	9	11	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:45815050C>A	ENST00000320560.8	+	18	2616	c.2414C>A	c.(2413-2415)aCa>aAa	p.T805K	ANO6_ENST00000423947.3_Missense_Mutation_p.T826K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	805					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCATACCACATGCAGGCAA	0.373																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2413-2415)aCa>aAa		anoctamin 6							78	71	73					12																	45815050		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45815050C>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2414C>A	12.37:g.45815050C>A	ENSP00000320087:p.Thr805Lys					ANO6_ENST00000441606.2_Missense_Mutation_p.T787K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000423947.3_Missense_Mutation_p.T826K	p.T805K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			18	2616	+			805					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2414C>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001985	0.54254	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.71461	-0.57;-0.44;-0.57;-0.44;-0.44	5.05	3.2	0.36748	.	0.224065	0.44902	D	0.000417	T	0.71567	0.3355	M	0.74881	2.28	0.40730	D	0.982733	P;P;P;B	0.42248	0.573;0.774;0.551;0.317	P;P;B;B	0.45794	0.493;0.493;0.325;0.118	T	0.70274	-0.4917	9	.	.	.	.	8.7333	0.34512	0.0:0.7605:0.0:0.2395	.	787;826;805;805	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	805;826;805;805;787	ENSP00000391417:T805K;ENSP00000409126:T826K;ENSP00000413840:T805K;ENSP00000320087:T805K;ENSP00000413137:T787K	.	T	+	2	0	ANO6	44101317	0.950000	0.32346	0.006000	0.13384	0.422000	0.31414	2.368000	0.44222	0.767000	0.33267	0.650000	0.86243	ACA		0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		4	153	1	0	1	1	1	4	153					A	45815050	C	A	45815050	3	1	43	1	0	0	0	0	1	0	0	0	701	478	17	3	2504	3	ANO6	12	45815050	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	20416766	45815050	88036845	61	5022											
MLL2	8085	broad.mit.edu	37	chr12	49433687	49433687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtaggggagggatccGtcgggtgcaggtggtggcag	22	6	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49433687G>A	ENST00000301067.7	-	31	7865	c.7866C>T	c.(7864-7866)gaC>gaT	p.D2622D	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2622	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGGGATCCGTCGGGTGCAG	0.647																																						ENST00000301067.7																			0											c.(7864-7866)gaC>gaT		lysine (K)-specific methyltransferase 2D							42	46	44					12																	49433687		2027	4183	6210	SO:0001819	synonymous_variant	8085							g.chr12:49433687G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7866C>T	12.37:g.49433687G>A							p.D2622D	NM_003482.3	NP_003473.3					31	7865	-								O14687	Silent	SNP	ENST00000301067.7	37	c.7866C>T	CCDS44873.1																																																																																				0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	169	0	0	0	1	0	12	169					A	49433687	G	A	49433687	2	1	43	1	0	0	0	0	0	0	0	1	9662	1136	40	1		1	MLL2	12	49433687	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	3618637	49433687	84418208	62	5023											
MLL2	8085	broad.mit.edu	37	chr12	49434081	49434082	+	Frame_Shift_Ins	INS	-	-	C													ggctgctgggaaccccccagINScccccagcgaagtgtgggct							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49434081_49434082insC	ENST00000301067.7	-	31	7470_7471	c.7471_7472insG	c.(7471-7473)gctfs	p.A2491fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2491	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAACCCCCCAGCCCCCAGCGAA	0.658																																						ENST00000301067.7																			0											c.(7471-7473)tggfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49434081_49434082insC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7472dupG	12.37:g.49434086_49434086dupC	ENSP00000301067:p.Ala2491fs						p.W2491fs	NM_003482.3	NP_003473.3					31	7470_7471	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.7471_7472insG	CCDS44873.1																																																																																				0.658	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			47	194						47	194	---	---	---	---	C	49434082	-	C	49434081	7	5	43	1	0	1	1	0	0	0	0	0	9662	971	34	0	9237	0	MLL2	12	49434081	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	394	49434081	84417814	63	5024											
IQCD	115811	broad.mit.edu	37	chr12	113645289	113645289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaattccttttcaagaGtatcaatgatttgttggtta	7	8	2	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:113645289G>A	ENST00000416617.2	-	2	873	c.683C>T	c.(682-684)aCt>aTt	p.T228I	IQCD_ENST00000299732.2_Missense_Mutation_p.T228I|IQCD_ENST00000546692.1_Missense_Mutation_p.T228I			Q96DY2	IQCD_HUMAN	IQ motif containing D	228										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTTTCAAGAGTATCAATGAT	0.378																																						ENST00000546692.1																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(682-684)aCt>aTt		IQ motif containing D							101	99	100					12																	113645289		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645289G>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.683C>T	12.37:g.113645289G>A	ENSP00000400669:p.Thr228Ile					IQCD_ENST00000416617.2_Missense_Mutation_p.T228I|IQCD_ENST00000299732.2_Missense_Mutation_p.T228I	p.T228I			Q96DY2	IQCD_HUMAN			2	1056	-			228					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	G	9.256	1.041929	0.19748	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.23147	2.85;2.85;1.92	5.25	-1.09	0.09904	.	1.285360	0.05512	N	0.560377	T	0.22704	0.0548	L	0.56769	1.78	0.09310	N	1	B;B	0.21147	0.052;0.002	B;B	0.15052	0.012;0.007	T	0.33059	-0.9883	10	0.46703	T	0.11	2.6825	2.9086	0.05730	0.1569:0.0995:0.418:0.3256	.	228;228	F8VZV9;Q96DY2-2	.;.	I	228	ENSP00000299732:T228I;ENSP00000400669:T228I;ENSP00000446623:T228I	ENSP00000299732:T228I	T	-	2	0	IQCD	112129672	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.233000	0.17911	-0.073000	0.12842	0.563000	0.77884	ACT		0.378	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		99	592	0	0	0	1	0	99	592					A	113645289	G	A	113645289	3	1	43	1	0	0	0	0	1	0	0	0	7835	1029	36	2	368	2	IQCD	12	113645289	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	64211208	113645289	20206606	64	5025											
TMEM132D	121256	broad.mit.edu	37	chr12	130184899	130184899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctgcactttgggccGgctcaggtagactttgtccc	11	13	1	2	rs368850505		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130184899G>A	ENST00000422113.2	-	2	750	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	142					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGGGCCGGCTCAGGTAG	0.527																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(424-426)Cgg>Tgg		transmembrane protein 132D		G	TRP/ARG	0,4406		0,0,2203	38	38	38		424	3.3	1	12		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	142/1100	130184899	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184899G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.424C>T	12.37:g.130184899G>A	ENSP00000408581:p.Arg142Trp						p.R142W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	750	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	142					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.424C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019720	0.19355	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.12984	2.63	5.33	3.3	0.37823	.	0.515638	0.16729	N	0.201915	T	0.16599	0.0399	M	0.71036	2.16	0.23449	N	0.997652	B	0.22211	0.066	B	0.12156	0.007	T	0.10894	-1.0610	9	.	.	.	-20.3601	11.7484	0.51835	0.0:0.0:0.3963:0.6037	.	142	Q14C87	T132D_HUMAN	W	142	ENSP00000408581:R142W	.	R	-	1	2	TMEM132D	128750852	0.995000	0.38212	0.978000	0.43139	0.278000	0.26855	1.468000	0.35332	1.208000	0.43306	-0.324000	0.08512	CGG		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		30	170	0	0	0	1	0	30	170					A	130184899	G	A	130184899	3	1	43	1	0	0	0	0	1	0	0	0	16099	1115	39	1	2907	1	TMEM132D	12	130184899	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	16539610	130184899	3666996	65	5026											
RIMBP2	23504	broad.mit.edu	37	chr12	130921729	130921729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagagtccacggactcGccctgggcggagagggtccg	16	13	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130921729G>A	ENST00000261655.4	-	10	1876	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G	RIMBP2_ENST00000535703.1_Silent_p.G479G|RIMBP2_ENST00000536002.1_Silent_p.G479G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	571	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		CCACGGACTCGCCCTGGGCGG	0.662																																						ENST00000261655.4																			0				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						c.(1711-1713)ggC>ggT		RIMS binding protein 2							23	20	21					12																	130921729		2190	4290	6480	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130921729G>A	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.1713C>T	12.37:g.130921729G>A						RIMBP2_ENST00000536002.1_Silent_p.G479G|RIMBP2_ENST00000535703.1_Silent_p.G479G	p.G571G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1876	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	571			Fibronectin type-III 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1713C>T	CCDS31925.1																																																																																				0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		15	33	0	0	0	1	0	15	33					A	130921729	G	A	130921729	2	1	43	1	0	0	0	0	0	0	0	1	13413	1074	38	1		1	RIMBP2	12	130921729	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	736830	130921729	2930166	66	5027											
KIAA0564	23078	broad.mit.edu	37	chr13	42273275	42273275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgtcacaaaagggtGccaaacgccattggctgttc	10	12	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr13:42273275G>A	ENST00000379310.3	-	29	3564	c.3496C>T	c.(3496-3498)Cac>Tac	p.H1166Y		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1166						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACAAAAGGGTGCCAAACGCCA	0.473																																						ENST00000379310.3																			0											c.(3496-3498)Cac>Tac		von Willebrand factor A domain containing 8							103	105	104					13																	42273275		1936	4122	6058	SO:0001583	missense	23078							g.chr13:42273275G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3496C>T	13.37:g.42273275G>A	ENSP00000368612:p.His1166Tyr						p.H1166Y	NM_015058.1	NP_055873.1					29	3564	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3496C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531905	0.27387	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09723	2.95	5.39	5.39	0.77823	.	0.205355	0.43110	D	0.000619	T	0.14657	0.0354	L	0.54323	1.7	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.03662	-1.1015	10	0.32370	T	0.25	.	19.5164	0.95167	0.0:0.0:1.0:0.0	.	1166	A3KMH1	K0564_HUMAN	Y	1070;1166	ENSP00000368612:H1166Y	ENSP00000251030:H1070Y	H	-	1	0	KIAA0564	41171275	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	7.067000	0.76741	2.682000	0.91365	0.585000	0.79938	CAC		0.473	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		105	279	0	0	0	1	0	105	279					A	42273275	G	A	42273275	3	1	43	1	0	0	0	0	1	0	0	0	8215	1319	46	2	2289	2	KIAA0564	13	42273275	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		42273275	72896603	67	5028											
DHRS4L1	728635	broad.mit.edu	37	chr14	24505740	24505740	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctacgaggccactgtGcccgggcagggaagtcggtg	18	12	0	0	rs556461153		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:24505740G>A	ENST00000558293.1	+	0	79					NR_102693.1																						AGGCCACTGTGCCCGGGCAGG	0.657																																						ENST00000558293.1																			0													dehydrogenase/reductase (SDR family) member 4 like 1							44	45	44					14																	24505740		2203	4300	6503			728635							g.chr14:24505740G>A																													14.37:g.24505740G>A								NR_102693.1						0	79	+									RNA	SNP	ENST00000558293.1	37			.	.	.	.	.	.	.	.	.	.	-	6.344	0.431578	0.12045	.	.	ENSG00000225766	ENST00000397065	.	.	.	1.94	-0.058	0.13799	.	.	.	.	.	T	0.20780	0.0500	N	0.17872	0.535	.	.	.	B	0.13145	0.007	B	0.09377	0.004	T	0.29852	-0.9998	7	0.14656	T	0.56	.	3.9397	0.09321	0.4481:0.0:0.5519:0.0	.	11	P0CG22	DR4L1_HUMAN	T	11	.	ENSP00000380255:A11T	A	+	1	0	AL136295.1	23575580	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.229000	0.09098	-0.022000	0.13986	0.194000	0.17425	GCC		0.657	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			13	92	0	0	0	1	0	13	92					A	24505740	G	A	24505740	1	1	43	0	1	0	0	0	0	0	0	0	4509	1319	46	2		2	DHRS4L1	14	24505740	RNA	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		24505740	82843800	68	5029											
PSMA6	5687	broad.mit.edu	37	chr14	35761738	35761738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaccattttttcacccgAgggtcggctctaccaagtag	8	12	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:35761738A>G	ENST00000261479.4	+	1	176	c.56A>G	c.(55-57)gAg>gGg	p.E19G	PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|AL121594.1_ENST00000578587.1_RNA|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000555764.1_5'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTCACCCGAGGGTCGGCTC	0.582																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(55-57)gAg>gGg		proteasome (prosome, macropain) subunit, alpha type, 6							100	96	98					14																	35761738		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761738A>G	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.56A>G	14.37:g.35761738A>G	ENSP00000261479:p.Glu19Gly					PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G	p.E19G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	176	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		19					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.56A>G	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	A	34	5.412570	0.96072	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.51325	0.71;0.71;0.71	5.87	5.87	0.94306	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	H	0.95574	3.69	0.80722	D	1	D	0.57257	0.979	P	0.60541	0.876	T	0.83320	-0.0018	10	0.87932	D	0	-31.8945	14.4865	0.67622	1.0:0.0:0.0:0.0	.	19	P60900	PSA6_HUMAN	G	19	ENSP00000261479:E19G;ENSP00000452603:E19G;ENSP00000450528:E19G	ENSP00000261479:E19G	E	+	2	0	PSMA6	34831489	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.288000	0.78691	2.242000	0.73789	0.482000	0.46254	GAG		0.582	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			6	456	0	0	0	1	0	6	456					G	35761738	A	G	35761738	3	3	43	1	0	0	0	0	1	0	0	0	12718	304	11	4	58	4	PSMA6	14	35761738	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	11255998	35761738	71587802	69	5030											
SSTR1	6751	broad.mit.edu	37	chr14	38678945	38678945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccttcctagtcacctcCacgttgttgcgccactggcc	9	17	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:38678945C>T	ENST00000267377.2	+	3	968	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TAGTCACCTCCACGTTGTTGC	0.577																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(349-351)tcC>tcT		somatostatin receptor 1	Octreotide(DB00104)						202	182	189					14																	38678945		2203	4300	6503	SO:0001819	synonymous_variant	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678945C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.351C>T	14.37:g.38678945C>T							p.S117S	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	968	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		117						Silent	SNP	ENST00000267377.2	37	c.351C>T	CCDS9666.1																																																																																				0.577	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			50	662	0	0	0	1	0	50	662					T	38678945	C	T	38678945	2	4	43	1	0	0	0	0	0	0	0	1	15249	581	21	2		2	SSTR1	14	38678945	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2917207	38678945	68670595	70	5031											
MGAT2	4247	broad.mit.edu	37	chr14	50088320	50088321	+	Frame_Shift_Ins	INS	-	-	C													gaatgtagataaggctggcaINScctgggccccccgggagctg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:50088320_50088321insC	ENST00000305386.2	+	1	832_833	c.334_335insC	c.(334-336)accfs	p.T112fs	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	112					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGGCTGGCACCTGGGCCCCC	0.614																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(334-336)ctgfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase																																				SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088320_50088321insC	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.336dupC	14.37:g.50088322_50088322dupC	ENSP00000307423:p.Thr112fs					RP11-649E7.5_ENST00000555043.1_RNA	p.L112fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	832_833	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		112					B3KPC5|B3KQM0	Frame_Shift_Ins	INS	ENST00000305386.2	37	c.334_335insC	CCDS9690.1																																																																																				0.614	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	590						7	590	---	---	---	---	C	50088321	-	C	50088320	7	5	43	1	0	1	1	0	0	0	0	0	9584	159	6	0	336	0	MGAT2	14	50088320	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	11409375	50088320	57261220	71	5032											
LTBP2	4053	broad.mit.edu	37	chr14	74968210	74968210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaggtgtagccctcccGcacgcgcacacagcggccat	11	17	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:74968210G>A	ENST00000261978.4	-	35	5640	c.5254C>T	c.(5254-5256)Cgg>Tgg	p.R1752W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1752	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCCTCCCGCACGCGCACA	0.622											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5254-5256)Cgg>Tgg		latent transforming growth factor beta binding protein 2							86	84	85					14																	74968210		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968210G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5254C>T	14.37:g.74968210G>A	ENSP00000261978:p.Arg1752Trp		OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	p.R1752W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5640	-			1752			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5254C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786592	0.70337	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92699	-3.09;-3.09	5.25	2.23	0.28157	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.470600	0.16123	N	0.228535	D	0.92143	0.7509	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	D	0.84993	0.0895	10	0.66056	D	0.02	.	11.6308	0.51173	0.0:0.1212:0.6393:0.2395	.	1752	Q14767	LTBP2_HUMAN	W	1752;1708	ENSP00000261978:R1752W;ENSP00000451477:R1708W	ENSP00000261978:R1752W	R	-	1	2	LTBP2	74037963	0.860000	0.29831	0.786000	0.31890	0.986000	0.74619	1.961000	0.40432	0.740000	0.32651	-0.188000	0.12872	CGG		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		68	379	0	0	0	1	0	68	379					A	74968210	G	A	74968210	3	1	43	1	0	0	0	0	1	0	0	0	9112	1086	38	1	219	1	LTBP2	14	74968210	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	24879890	74968210	32381330	72	5033											
DLL4	54567	broad.mit.edu	37	chr15	41226899	41226899	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcaacccctgtcgcaAtggaggcagctgtaaggtga	13	10	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:41226899A>T	ENST00000249749.5	+	7	1280	c.1004A>T	c.(1003-1005)aAt>aTt	p.N335I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	335	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGTCGCAATGGAGGCAGC	0.592																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1003-1005)aAt>aTt		delta-like 4 (Drosophila)							60	64	63					15																	41226899		2200	4296	6496	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41226899A>T	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1004A>T	15.37:g.41226899A>T	ENSP00000249749:p.Asn335Ile						p.N335I	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	7	1280	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	335			EGF-like 4.		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1004A>T	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830554	0.91036	.	.	ENSG00000128917	ENST00000249749	D	0.95069	-3.6	5.97	5.97	0.96955	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	.	16.4504	0.83984	1.0:0.0:0.0:0.0	.	335	Q9NR61	DLL4_HUMAN	I	335	ENSP00000249749:N335I	ENSP00000249749:N335I	N	+	2	0	DLL4	39014191	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.962000	0.93254	2.288000	0.76882	0.533000	0.62120	AAT		0.592	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			10	168	0	0	0	1	0	10	168					T	41226899	A	T	41226899	3	4	43	1	0	0	0	0	1	0	0	0	4584	101	4	5	1030	5	DLL4	15	41226899	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08		41226899	61304493	73	5034											
DMXL2	23312	broad.mit.edu	37	chr15	51791633	51791633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcatttcacaatccattCctaccaccaatatcccatct	1	16	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:51791633C>T	ENST00000251076.5	-	18	4075	c.3788G>A	c.(3787-3789)gGa>gAa	p.G1263E	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1263						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATCCATTCCTACCACCAA	0.423																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3787-3789)gGa>gAa		Dmx-like 2							187	175	179					15																	51791633		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791633C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3788G>A	15.37:g.51791633C>T	ENSP00000251076:p.Gly1263Glu					DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E	p.G1263E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4075	-			1263					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3788G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146050	0.77888	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.42131	0.98;0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71467	-0.4584	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1263;1263	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	E	1263	ENSP00000251076:G1263E;ENSP00000441858:G1263E	ENSP00000251076:G1263E	G	-	2	0	DMXL2	49578925	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGA		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	814	0	0	0	1	0	8	814					T	51791633	C	T	51791633	3	4	43	1	0	0	0	0	1	0	0	0	4611	855	30	2	5429	2	DMXL2	15	51791633	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	10564734	51791633	50739759	74	5035											
UNC13C	440279	broad.mit.edu	37	chr15	54306714	54306714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acacctctctggcactcacaGagtgattttttcactgctaa	6	12	3	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:54306714G>C	ENST00000260323.11	+	1	1614	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	538					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACTCACAGAGTGATTTTT	0.368																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1612-1614)caG>caC		unc-13 homolog C (C. elegans)							58	57	58					15																	54306714		1850	4105	5955	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306714G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1614G>C	15.37:g.54306714G>C	ENSP00000260323:p.Gln538His					UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q538H	p.Q538H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1614	+			538					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1614G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267447	0.40095	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83506	-1.73;-1.73;-1.73	5.01	4.02	0.46733	.	.	.	.	.	D	0.83510	0.5270	L	0.27053	0.805	0.39140	D	0.962024	D	0.67145	0.996	D	0.75484	0.986	D	0.84308	0.0509	9	0.87932	D	0	.	9.0517	0.36380	0.1739:0.0:0.8261:0.0	.	538	Q8NB66	UN13C_HUMAN	H	538	ENSP00000260323:Q538H;ENSP00000438156:Q538H;ENSP00000442569:Q538H	ENSP00000260323:Q538H	Q	+	3	2	UNC13C	52094006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	2.608000	0.88229	0.655000	0.94253	CAG		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		26	209	0	0	0	1	0	26	209					C	54306714	G	C	54306714	3	2	43	1	0	0	0	0	1	0	0	0	17040	933	33	5	1616	5	UNC13C	15	54306714	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	2515081	54306714	48224678	75	5036											
RFX7	64864	broad.mit.edu	37	chr15	56535410	56535410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccacccccgagTtgggggcgctggggggaagc	20	12	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:56535410T>C	ENST00000423270.1	-	1	73	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.N25S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						CACCCCCGAGTTGGGGGCGCT	0.652																																						ENST00000423270.1																			0				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						c.(73-75)aAc>aGc		regulatory factor X, 7							10	12	11					15																	56535410		1909	4106	6015	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56535410T>C			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		ENST00000423270.1:c.74A>G	15.37:g.56535410T>C	ENSP00000397644:p.Asn25Ser					RFX7_ENST00000317318.6_Missense_Mutation_p.N25S|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	p.N25S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			1	73	-			672					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000423270.1	37	c.74A>G		.	.	.	.	.	.	.	.	.	.	T	10.81	1.456433	0.26161	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.50001	0.76;0.76	3.0	0.546	0.17196	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.25825	N	0.984237	.	.	.	.	.	.	T	0.23511	-1.0186	6	0.31617	T	0.26	.	1.6971	0.02864	0.2693:0.2644:0.0:0.4663	.	.	.	.	S	25	ENSP00000313299:N25S;ENSP00000397644:N25S	ENSP00000313299:N25S	N	-	2	0	RFX7	54322702	0.761000	0.28439	0.997000	0.53966	0.994000	0.84299	0.111000	0.15458	0.339000	0.23719	0.377000	0.23210	AAC		0.652	RFX7-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022841		7	58	0	0	0	1	0	7	58					C	56535410	T	C	56535410	3	2	43	1	0	0	0	0	1	0	0	0	13318	1725	60	4	4344	4	RFX7	15	56535410	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	2228696	56535410	45995982	76	5037											
XYLT1	64131	broad.mit.edu	37	chr16	17228362	17228362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatccgtgtgcagggaCgtctcggcccgtcgaagacc	12	16	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:17228362C>T	ENST00000261381.6	-	9	2079	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665			T -> M. {ECO:0000269|PubMed:16571645}.		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607																																						ENST00000261381.6																			1	Substitution - coding silent(1)	p.T665T(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1993-1995)acG>acA		xylosyltransferase I							73	63	67					16																	17228362		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228362C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1995G>A	16.37:g.17228362C>T						CTD-2576D5.4_ENST00000567344.1_RNA	p.T665T	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			9	2079	-			665					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1995G>A	CCDS10569.1																																																																																				0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		65	225	0	0	0	1	0	65	225					T	17228362	C	T	17228362	2	4	43	1	0	0	0	0	0	0	0	1	17517	523	19	1		1	XYLT1	16	17228362	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		17228362	73126391	77	5038											
DNAH3	55567	broad.mit.edu	37	chr16	21082034	21082034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcatttcctcttacccgGcattctgcttctattggttt	5	12	4	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:21082034G>A	ENST00000261383.3	-	22	3197	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	DNAH3_ENST00000415178.1_Silent_p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1066	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)			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)		CTCTTACCCGGCATTCTGCTT	0.428																																						ENST00000261383.3																			0				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						c.(3196-3198)tgC>tgT		dynein, axonemal, heavy chain 3							203	187	192					16																	21082034		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082034G>A	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.3198C>T	16.37:g.21082034G>A						DNAH3_ENST00000415178.1_Silent_p.C1066C	p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3197	-			1066			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3198C>T	CCDS10594.1																																																																																				0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		6	550	0	0	0	1	0	6	550					A	21082034	G	A	21082034	2	1	43	1	0	0	0	0	0	0	0	1	4619	1195	42	2		2	DNAH3	16	21082034	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	3853672	21082034	69272719	78	5039											
CMIP	80790	broad.mit.edu	37	chr16	81479102	81479102	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattcctgaggcgctgggagCcgcaccacctaacgctggcc	12	15	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:81479102C>G	ENST00000537098.3	+	1	328	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	86	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCGCTGGGAGCCGCACCACCT	0.667																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(256-258)Ccg>Gcg		c-Maf inducing protein							17	21	20					16																	81479102		1935	4104	6039	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81479102C>G	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.256C>G	16.37:g.81479102C>G	ENSP00000446100:p.Pro86Ala						p.P86A	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			1	328	+			52			PH.		Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.256C>G	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744161	0.49151	.	.	ENSG00000153815	ENST00000537098	T	0.29142	1.58	2.97	2.97	0.34412	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.36303	U	0.002668	T	0.16938	0.0407	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.05225	-1.0898	10	0.42905	T	0.14	.	14.1926	0.65649	0.0:1.0:0.0:0.0	.	86	Q8IY22	CMIP_HUMAN	A	86	ENSP00000446100:P86A	ENSP00000446100:P86A	P	+	1	0	CMIP	80036603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.464000	0.73534	1.329000	0.45376	0.313000	0.20887	CCG		0.667	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		8	19	0	0	0	1	0	8	19					G	81479102	C	G	81479102	3	3	43	1	0	0	0	0	1	0	0	0	3587	739	26	5	258	5	CMIP	16	81479102	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	60397068	81479102	8875651	79	5040											
TP53	7157	broad.mit.edu	37	chr17	7578260	7578260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgcaaatttccttccaCtcggataagatgctgaggag	9	11	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:7578260C>T	ENST00000269305.4	-	6	778	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000420246.2_Missense_Mutation_p.V197M|TP53_ENST00000455263.2_Missense_Mutation_p.V197M	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	197	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in 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.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(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)	TTTCCTTCCACTCGGATAAGA	0.552		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)	ENST00000420246.2		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"		42	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1)	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)	breast(6)|biliary_tract(5)|large_intestine(5)|liver(5)|skin(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|oesophagus(1)|ovary(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	GRCh37	CM070297	TP53	M		c.(589-591)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							108	96	100					17																	7578260		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578260C>T	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.589G>A	17.37:g.7578260C>T	ENSP00000269305:p.Val197Met	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_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000269305.4_Missense_Mutation_p.V197M|TP53_ENST00000445888.2_Missense_Mutation_p.V197M	p.V197M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	197		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.589G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638630	0.47153	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.059878	0.64402	D	0.000004	D	0.99743	0.9898	M	0.77820	2.39	0.52099	D	0.999948	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.999;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.972;0.996;1.0;0.97;0.999;1.0	D	0.97268	0.9909	10	0.66056	D	0.02	-16.054	12.3714	0.55256	0.0:0.9175:0.0:0.0824	.	158;197;197;104;197;197;197	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	197;197;197;197;197;197;186;104;65;104;65	ENSP00000410739:V197M;ENSP00000352610:V197M;ENSP00000269305:V197M;ENSP00000398846:V197M;ENSP00000391127:V197M;ENSP00000391478:V197M;ENSP00000425104:V65M;ENSP00000423862:V104M	ENSP00000269305:V197M	V	-	1	0	TP53	7518985	0.994000	0.37717	0.999000	0.59377	0.021000	0.10359	3.252000	0.51461	1.420000	0.47138	0.655000	0.94253	GTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	143	0	0	0	1	0	32	143					T	7578260	C	T	7578260	3	4	43	1	0	0	0	0	1	0	0	0	16434	565	20	2	705	2	TP53	17	7578260	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		7578260	73616950	80	5041											
GAST	2520	broad.mit.edu	37	chr17	39872062	39872064	+	In_Frame_Del	DEL	GAA	GAA	-													agcagggaccatggctggagGaagaagaagaagcctatgga							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:39872062_39872064delGAA	ENST00000329402.3	+	3	311_313	c.244_246delGAA	c.(244-246)gaadel	p.E85del	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	85					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGGCTGGAGGAAGAAGAAGAAG	0.562																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(244-246)del		gastrin																																				SO:0001651	inframe_deletion	2520					extracellular region	hormone activity	g.chr17:39872062_39872064delGAA		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.244_246delGAA	17.37:g.39872071_39872073delGAA	ENSP00000331358:p.Glu85del					JUP_ENST00000540235.1_Intron	p.E85del	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	311_313	+		Breast(137;0.000307)	85					P78463|P78464	In_Frame_Del	DEL	ENST00000329402.3	37	c.244_246delGAA	CCDS11404.1																																																																																				0.562	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			7	502						7	502	---	---	---	---	-	39872064	GAA	-	39872062	7	5	43	1	0	1	0	1	0	0	0	0	6280	1175	41	0	250	0	GAST	17	39872062	In_Frame_Del	DEL	GAA	TCGA-F2-A7TX-01A-33D-A38G-08	32293802	39872062	41323148	81	5042											
GRN	2896	broad.mit.edu	37	chr17	42428464	42428464	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacactgtgtgtgacctgatCcagagtaagtgcctctccaa	10	11	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:42428464C>A	ENST00000053867.3	+	8	830	c.768C>A	c.(766-768)atC>atA	p.I256I	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	256					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)			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)		GTGACCTGATCCAGAGTAAGT	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3																			0				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						c.(766-768)atC>atA		granulin							112	102	105					17																	42428464		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428464C>A	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.768C>A	17.37:g.42428464C>A			OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron	p.I256I	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	830	+		Prostate(33;0.0181)	256					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.768C>A	CCDS11483.1																																																																																				0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		6	318	1	0	3.59834e-05	1	3.87782e-05	6	318					A	42428464	C	A	42428464	2	1	43	1	0	0	0	0	0	0	0	1	6834	845	30	3		3	GRN	17	42428464	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2556402	42428464	38766746	82	5043											
MAPT	4137	broad.mit.edu	37	chr17	44060673	44060673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccagagaggccacacGccaaccttcggggacaggac	14	15	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:44060673G>A	ENST00000571987.1	+	5	503	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GAGGCCACACGCCAACCTTCG	0.697																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(502-504)cGc>cAc		microtubule-associated protein tau							13	15	14					17																	44060673		2196	4288	6484	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060673G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.503G>A	17.37:g.44060673G>A	ENSP00000458742:p.Arg168His					MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168H|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000570299.1_Intron	p.R168H	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	825	+		Melanoma(429;0.216)	168					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.503G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103437	0.20632	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10099	2.91;2.91;2.91	4.03	-7.22	0.01485	.	2.448770	0.01389	N	0.013192	T	0.02380	0.0073	N	0.00538	-1.39	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.39354	-0.9618	10	0.31617	T	0.26	4.9526	2.1491	0.03795	0.3493:0.1391:0.3754:0.1362	.	168;168	P10636-9;P10636	.;TAU_HUMAN	H	168	ENSP00000340820:R168H;ENSP00000262410:R168H;ENSP00000410838:R168H	ENSP00000262410:R168H	R	+	2	0	MAPT	41416510	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-1.116000	0.03286	-1.431000	0.01982	-0.459000	0.05422	CGC		0.697	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		13	49	0	0	0	1	0	13	49					A	44060673	G	A	44060673	3	1	43	1	0	0	0	0	1	0	0	0	9338	1087	38	1	521	1	MAPT	17	44060673	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	1632209	44060673	37134537	83	5044											
HOXB3	3213	broad.mit.edu	37	chr17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgttggcttggaggaCgtgcggctcatactcgggcg	16	13	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:46627995C>T	ENST00000470495.1	-	2	2444	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I			P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCTTGGAGGACGTGCGGCTCA	0.721											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(997-999)Gtc>Atc		homeobox B3							20	27	25					17																	46627995		2194	4287	6481	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46627995C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.997G>A	17.37:g.46627995C>T	ENSP00000417207:p.Val333Ile		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I	p.V333I			P14651	HXB3_HUMAN			2	2444	-			333					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.997G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348351	0.24426	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.90844	-2.66;-2.63;-2.66;-2.66;-2.74;-2.74;-2.74;-2.63;-2.66	3.8	2.83	0.33086	.	0.243879	0.32671	N	0.005796	D	0.83815	0.5336	L	0.38175	1.15	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.77653	-0.2507	10	0.37606	T	0.19	.	9.3477	0.38118	0.0:0.8227:0.0:0.1773	.	333	P14651	HXB3_HUMAN	I	333;260;333;333;199;201;201;260;333	ENSP00000417207:V333I;ENSP00000419676:V260I;ENSP00000308252:V333I;ENSP00000420595:V333I;ENSP00000449977:V199I;ENSP00000418035:V201I;ENSP00000438747:V201I;ENSP00000418729:V260I;ENSP00000418892:V333I	ENSP00000308252:V333I	V	-	1	0	HOXB3	43982994	0.002000	0.14202	1.000000	0.80357	0.921000	0.55340	-0.007000	0.12810	0.950000	0.37743	-0.448000	0.05591	GTC		0.721	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			21	223	0	0	0	1	0	21	223					T	46627995	C	T	46627995	3	4	43	1	0	0	0	0	1	0	0	0	7332	536	19	1	302	1	HOXB3	17	46627995	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2567322	46627995	34567215	84	5045											
ACTL9	284382	broad.mit.edu	37	chr19	8808381	8808381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtcaggtggttgcccGccaggtccagacgctccgtg	16	13	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:8808381G>A	ENST00000324436.3	-	1	791	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	224						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGGTTGCCCGCCAGGTCCAG	0.662																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(670-672)gCg>gTg		actin-like 9							41	40	41					19																	8808381		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808381G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.671C>T	19.37:g.8808381G>A	ENSP00000316674:p.Ala224Val						p.A224V	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	791	-			224					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.671C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832211	0.71258	.	.	ENSG00000181786	ENST00000324436	T	0.14640	2.49	4.55	1.18	0.20946	.	0.301968	0.23206	N	0.050737	T	0.23965	0.0580	H	0.97491	4.015	0.38031	D	0.935152	P	0.51351	0.944	B	0.37091	0.241	T	0.37753	-0.9692	10	0.87932	D	0	.	6.2393	0.20780	0.1648:0.0:0.686:0.1493	.	224	Q8TC94	ACTL9_HUMAN	V	224	ENSP00000316674:A224V	ENSP00000316674:A224V	A	-	2	0	ACTL9	8669381	1.000000	0.71417	0.222000	0.23844	0.723000	0.41478	5.869000	0.69613	0.251000	0.21505	0.462000	0.41574	GCG		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		4	221	0	0	0	1	0	4	221					A	8808381	G	A	8808381	3	1	43	1	0	0	0	0	1	0	0	0	203	1087	38	1	583	1	ACTL9	19	8808381	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		8808381	50320602	85	5046											
NWD1	284434	broad.mit.edu	37	chr19	16860012	16860012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgggaacagggagccaccGtcttccttagagagatccaa	11	12	1	2	rs142661674		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:16860012G>A	ENST00000552788.1	+	4	559	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	NWD1_ENST00000524140.2_Missense_Mutation_p.V187I|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000523826.1_5'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	187							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGCCACCGTCTTCCTTAG	0.582																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(559-561)Gtc>Atc		NACHT and WD repeat domain containing 1		G	ILE/VAL	1,4405		0,1,2202	80	62	68		559	-1.6	0	19	dbSNP_134	68	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	187/1433	16860012	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860012G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.559G>A	19.37:g.16860012G>A	ENSP00000447224:p.Val187Ile					NWD1_ENST00000552788.1_Missense_Mutation_p.V187I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000523826.1_5'UTR	p.V187I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	977	+			187					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	N	0.072	-1.200132	0.01581	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803	T;T;T;T;T	0.56941	1.77;1.77;1.77;1.77;0.43	4.45	-1.62	0.08372	.	0.464471	0.20800	N	0.085444	T	0.32406	0.0828	L	0.42686	1.345	0.22066	N	0.999385	B;B	0.18013	0.025;0.006	B;B	0.12837	0.008;0.003	T	0.34378	-0.9831	10	0.05351	T	0.99	-15.3841	7.6641	0.28421	0.4955:0.0:0.5045:0.0	.	187;52	Q149M9-3;C9J2Y8	.;.	I	52;187;187;187;187;52	ENSP00000428579:V187I;ENSP00000447548:V187I;ENSP00000369136:V187I;ENSP00000447224:V187I;ENSP00000340159:V52I	ENSP00000340159:V52I	V	+	1	0	NWD1	16721012	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	-0.267000	0.08619	0.027000	0.15297	-0.497000	0.04613	GTC		0.582	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	231	0	0	0	1	0	5	231					A	16860012	G	A	16860012	3	1	43	1	0	0	0	0	1	0	0	0	10823	1145	40	1	160	1	NWD1	19	16860012	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	8051631	16860012	42268971	86	5047											
MYO9B	4650	broad.mit.edu	37	chr19	17313080	17313080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagatgagttcacccgtGgctacaccaagaacgacttc	9	12	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:17313080G>A	ENST00000594824.1	+	28	4951	c.4804G>A	c.(4804-4806)Ggc>Agc	p.G1602S	MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S|MYO9B_ENST00000595618.1_Missense_Mutation_p.G1602S			Q13459	MYO9B_HUMAN	myosin IXB	1602	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTTCACCCGTGGCTACACCAA	0.597																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4804-4806)Ggc>Agc		myosin IXB							31	34	33					19																	17313080		2112	4221	6333	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17313080G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4804G>A	19.37:g.17313080G>A	ENSP00000471367:p.Gly1602Ser					MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S|MYO9B_ENST00000594824.1_Missense_Mutation_p.G1602S	p.G1602S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			28	4956	+			1602			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4804G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.246218	0.22796	.	.	ENSG00000099331	ENST00000397274	D	0.84070	-1.8	4.51	2.29	0.28610	.	0.243175	0.28859	N	0.013909	T	0.69342	0.3100	L	0.35854	1.095	0.39346	D	0.965669	B;B;B;B	0.29341	0.131;0.242;0.131;0.156	B;B;B;B	0.28784	0.031;0.094;0.031;0.043	T	0.56986	-0.7888	10	0.08837	T	0.75	.	7.8424	0.29406	0.0931:0.1643:0.7426:0.0	.	1602;1602;1602;1608	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	S	1602	ENSP00000380444:G1602S	ENSP00000380444:G1602S	G	+	1	0	MYO9B	17174080	0.896000	0.30565	0.042000	0.18584	0.868000	0.49771	1.890000	0.39728	0.290000	0.22444	0.313000	0.20887	GGC		0.597	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			10	44	0	0	0	1	0	10	44					A	17313080	G	A	17313080	3	1	43	1	0	0	0	0	1	0	0	0	10126	1348	47	2	4910	2	MYO9B	19	17313080	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	453068	17313080	41815903	87	5048											
TSHZ3	57616	broad.mit.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctgctgctgctgctActgctgctgctgctgctgcc	11	16	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39	44	42					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	163	0	0	0	1	0	4	163					G	31770237	A	G	31770237	2	3	43	1	0	0	0	0	0	0	0	1	16678	388	14	4		4	TSHZ3	19	31770237	Silent	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	14457157	31770237	27358746	88	5049											
RYR1	6261	broad.mit.edu	37	chr19	38976774	38976774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacggtgggcagcacgctCgcgaccccgtcgggggctcc	17	16	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:38976774C>T	ENST00000359596.3	+	34	5479	c.5479C>T	c.(5479-5481)Cgc>Tgc	p.R1827C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1827C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	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)			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)	GCAGCACGCTCGCGACCCCGT	0.692																																						ENST00000355481.4																			0				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						c.(5479-5481)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						81	79	80					19																	38976774		2197	4290	6487	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.chr19:38976774C>T	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.5479C>T	19.37:g.38976774C>T	ENSP00000352608:p.Arg1827Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1827C	p.R1827C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5610	+	all_cancers(60;7.91e-06)		1827			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5479C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897596	0.33535	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75821	-0.97;-0.97;-0.97	3.7	1.45	0.22620	.	0.000000	0.56097	U	0.000022	D	0.83257	0.5215	M	0.84082	2.675	0.45390	D	0.998377	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.80471	-0.1368	10	0.87932	D	0	.	5.8485	0.18679	0.4699:0.4345:0.0:0.0956	.	1827;1827	P21817-2;P21817	.;RYR1_HUMAN	C	1827	ENSP00000352608:R1827C;ENSP00000347667:R1827C;ENSP00000354254:R1827C	ENSP00000347667:R1827C	R	+	1	0	RYR1	43668614	0.042000	0.20092	0.218000	0.23776	0.839000	0.47603	0.423000	0.21313	0.215000	0.20761	-0.237000	0.12165	CGC		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			106	392	0	0	0	1	0	106	392					T	38976774	C	T	38976774	3	4	43	1	0	0	0	0	1	0	0	0	13818	884	31	1	5613	1	RYR1	19	38976774	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	7206537	38976774	20152209	89	5050											
CCDC8	83987	broad.mit.edu	37	chr19	46915715	46915715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgccgcgggccctggCggctcttgtctctggaggtc	15	16	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:46915715C>T	ENST00000307522.3	-	1	1126	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	118					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGCCCTGGCGGCTCTTGTC	0.637																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(352-354)cGc>cAc		coiled-coil domain containing 8							52	58	56					19																	46915715		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915715C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.353G>A	19.37:g.46915715C>T	ENSP00000303158:p.Arg118His						p.R118H	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1126	-			118					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.353G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592819	0.28357	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.13420	2.59	3.78	-7.56	0.01322	.	2.515660	0.01447	N	0.015325	T	0.06188	0.0160	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28713	-1.0035	10	0.13108	T	0.6	.	8.1402	0.31078	0.0:0.1367:0.4249:0.4384	.	118	Q9H0W5	CCDC8_HUMAN	H	118	ENSP00000303158:R118H	ENSP00000303158:R118H	R	-	2	0	CCDC8	51607555	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.843000	0.00352	-1.722000	0.01377	-0.345000	0.07892	CGC		0.637	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		73	445	0	0	0	1	0	73	445					T	46915715	C	T	46915715	3	4	43	1	0	0	0	0	1	0	0	0	2860	768	27	1	1267	1	CCDC8	19	46915715	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	7938941	46915715	12213268	90	5051											
ZNF416	55659	broad.mit.edu	37	chr19	58084554	58084554	+	Frame_Shift_Del	DEL	T	T	-													tttgctagattcataaagccTttttccagtgcagactctag							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58084554delT	ENST00000196489.3	-	4	940	c.718delA	c.(718-720)aggfs	p.R240fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATAAAGCCTTTTTCCAGTG	0.473																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(718-720)ggfs		zinc finger protein 416							161	158	159					19																	58084554		2203	4300	6503	SO:0001589	frameshift_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084554delT	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.718delA	19.37:g.58084554delT	ENSP00000196489:p.Arg240fs						p.R240fs	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	940	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	240					Q9NWW8	Frame_Shift_Del	DEL	ENST00000196489.3	37	c.718delA	CCDS12954.1																																																																																				0.473	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		8	1031						8	1031	---	---	---	---	-	58084554	T	-	58084554	7	5	43	1	0	1	0	1	0	0	0	0	17946	1608	56	0	1070	0	ZNF416	19	58084554	Frame_Shift_Del	DEL	T	TCGA-F2-A7TX-01A-33D-A38G-08	11168839	58084554	1044429	91	5052											
ZNF154	7710	broad.mit.edu	37	chr19	58216263	58216263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccagcatcacatcacGgtacaggcatctttgagcct	8	13	4	1	rs376733811		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58216263G>A	ENST00000512439.2	-	2	314	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C			Q13106	ZN154_HUMAN	zinc finger protein 154	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCACATCACGGTACAGGCAT	0.507																																						ENST00000512439.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(118-120)Cgt>Tgt		zinc finger protein 154		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	177	168	171		118	1.7	0.4	19		171	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF154	NM_001085384.1	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	40/438	58216263	3,13003	2203	4300	6503	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58216263G>A	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.118C>T	19.37:g.58216263G>A	ENSP00000421258:p.Arg40Cys					ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.R40C			Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	314	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	40			KRAB.		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.118C>T	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650024	0.29336	2.27E-4	2.33E-4	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.02812	4.15;4.15	2.78	1.73	0.24493	Krueppel-associated box (4);	.	.	.	.	T	0.04227	0.0117	M	0.67569	2.06	0.18873	N	0.999987	B	0.14438	0.01	B	0.11329	0.006	T	0.32079	-0.9920	9	0.52906	T	0.07	.	5.3394	0.15974	0.1627:0.0:0.8373:0.0	.	40	Q13106	ZN154_HUMAN	C	40	ENSP00000421258:R40C;ENSP00000442370:R40C	ENSP00000442370:R40C	R	-	1	0	ZNF154	62908075	0.000000	0.05858	0.360000	0.25837	0.915000	0.54546	-0.647000	0.05397	0.741000	0.32674	0.313000	0.20887	CGT		0.507	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			28	550	0	0	0	1	0	28	550					A	58216263	G	A	58216263	3	1	43	1	0	0	0	0	1	0	0	0	17788	1116	39	1	1203	1	ZNF154	19	58216263	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	131709	58216263	912720	92	5053											
CHMP2A	27243	broad.mit.edu	37	chr19	59063528	59063530	+	In_Frame_Del	DEL	TCT	TCT	-													ccgctcaaactccatcatgaTcttctggatctggggcaact							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:59063528_59063530delTCT	ENST00000600118.1	-	3	796_798	c.371_373delAGA	c.(370-375)aagatc>atc	p.K124del	CHMP2A_ENST00000601220.1_In_Frame_Del_p.K124del|CHMP2A_ENST00000312547.2_In_Frame_Del_p.K124del			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	124	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCCATCATGATCTTCTGGATCTG	0.517																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(370-375)atc>a		charged multivesicular body protein 2A																																				SO:0001651	inframe_deletion	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063528_59063530delTCT	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.371_373delAGA	19.37:g.59063531_59063533delTCT	ENSP00000469240:p.Lys124del					CHMP2A_ENST00000601220.1_In_Frame_Del_p.KI124del|CHMP2A_ENST00000312547.2_In_Frame_Del_p.KI124del	p.KI124del			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	796_798	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	124			Interaction with VPS4B.		B2R4W6|Q3ZTT0	In_Frame_Del	DEL	ENST00000600118.1	37	c.371_373delAGA	CCDS12986.1																																																																																				0.517	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		45	690						45	690	---	---	---	---	-	59063530	TCT	-	59063528	7	5	43	1	0	1	0	1	0	0	0	0	3363	1435	50	0	307	0	CHMP2A	19	59063528	In_Frame_Del	DEL	TCT	TCGA-F2-A7TX-01A-33D-A38G-08	847265	59063528	65455	93	5054											
ZMYND8	23613	broad.mit.edu	37	chr20	45875071	45875072	+	Frame_Shift_Ins	INS	-	-	T													ctgggtttgtaggcttgggcINSttttttttaacagcagatgg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:45875071_45875072insT	ENST00000311275.7	-	14	2157_2158	c.1904_1905insA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.K572fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.K662fs	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	635					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)			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)			TAGGCTTGGGCTTTTTTTTAAC	0.49																																						ENST00000311275.7																			0				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						c.(1903-1905)accfs		zinc finger, MYND-type containing 8																																				SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875071_45875072insT	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.1905dupA	20.37:g.45875079_45875079dupT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.T572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.T583fs|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.T662fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.T630fs	p.T635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157_2158	-			635					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	Frame_Shift_Ins	INS	ENST00000311275.7	37	c.1904_1905insA																																																																																					0.49	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		11	839						11	839	---	---	---	---	T	45875072	-	T	45875071	7	5	43	1	0	1	1	0	0	0	0	0	17764	796	28	0	1641	0	ZMYND8	20	45875071	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08		45875071	17150449	94	5055											
TAF4	6874	broad.mit.edu	37	chr20	60585136	60585136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtggtcgcccctggtAccgtgcgctgaggagtcccc	15	13	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:60585136A>G	ENST00000252996.4	-	4	1726	c.1727T>C	c.(1726-1728)gTa>gCa	p.V576A	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	576					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCCCCTGGTACCGTGCGCTG	0.617																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1726-1728)gTa>gCa		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							97	77	84					20																	60585136		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60585136A>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1727T>C	20.37:g.60585136A>G	ENSP00000252996:p.Val576Ala						p.V576A	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		4	1726	-	Breast(26;1e-08)		576					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1727T>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	A	8.390	0.839537	0.16891	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.23348	1.92;1.91	4.8	3.65	0.41850	.	0.449437	0.23513	N	0.047377	T	0.15782	0.0380	L	0.44542	1.39	0.43471	D	0.995686	P	0.34699	0.464	B	0.28709	0.093	T	0.03739	-1.1008	10	0.02654	T	1	-10.3553	10.7964	0.46464	0.8585:0.0:0.0:0.1414	.	576	O00268	TAF4_HUMAN	A	576;440	ENSP00000252996:V576A;ENSP00000399091:V440A	ENSP00000252996:V576A	V	-	2	0	TAF4	60018531	1.000000	0.71417	0.628000	0.29241	0.112000	0.19704	6.400000	0.73252	1.805000	0.52779	0.260000	0.18958	GTA		0.617	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		13	141	0	0	0	1	0	13	141					G	60585136	A	G	60585136	3	3	43	1	0	0	0	0	1	0	0	0	15578	391	14	4	1578	4	TAF4	20	60585136	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	14710065	60585136	2440384	95	5056											
DIDO1	11083	broad.mit.edu	37	chr20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttttcagaaaagggtgCggacccccgtagtccaccaa	9	11	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAAGGGTGCGGACCCCCGT	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5986-5988)Gca>Aca		death inducer-obliterator 1							85	105	98					20																	61511322		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511322C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5986G>A	20.37:g.61511322C>T	ENSP00000266070:p.Ala1996Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6311	-	Breast(26;5.68e-08)		1996			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5986G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	6.840	0.524236	0.13066	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.91	2.95	0.34219	.	0.339513	0.20856	N	0.084434	T	0.06462	0.0166	L	0.45581	1.43	0.09310	N	0.999999	B	0.21147	0.052	B	0.13407	0.009	T	0.43048	-0.9415	10	0.09843	T	0.71	-4.5369	6.2343	0.20754	0.1314:0.6469:0.0:0.2218	.	1996	Q9BTC0	DIDO1_HUMAN	T	1996	ENSP00000266070:A1996T;ENSP00000378752:A1996T	ENSP00000266070:A1996T	A	-	1	0	DIDO1	60981767	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.406000	0.21032	0.573000	0.29400	0.561000	0.74099	GCA		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	893	0	0	0	1	0	9	893					T	61511322	C	T	61511322	3	4	43	1	0	0	0	0	1	0	0	0	4538	768	27	1	740	1	DIDO1	20	61511322	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	926186	61511322	1514198	96	5057											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	257						7	257	---	---	---	---	-	135585050	AAG	-	135585048	7	5	43	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-F2-A7TX-01A-33D-A38G-08		135585048	19685512	97	5058											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	146						9	146	---	---	---	---	-	149639327	CAG	-	149639325	7	5	43	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-F2-A7TX-01A-33D-A38G-08	14054277	149639325	5631235	98	5059											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	213						10	213	---	---	---	---	-	149639635	GCA	-	149639633	7	5	43	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-F2-A7TX-01A-33D-A38G-08	308	149639633	5630927	99	5060											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctcttccttgccgtINSggggggggccctgggcaaca					rs375310385		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	255						8	255	---	---	---	---	G	153688565	-	G	153688564	7	5	43	1	0	1	1	0	0	0	0	0	12163	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	4048931	153688564	1581996	100	5061											
TAS1R2	80834	broad.mit.edu	37	chr1	19181067	19181067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcccaggactcggaggcGatccacacggcgccagtgaa	14	13	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	299					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(895-897)atC>atT		taste receptor, type 1, member 2	Aspartame(DB00168)						57	54	55					1																	19181067		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181067G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.897C>T	1.37:g.19181067G>A						RP13-279N23.2_ENST00000494072.3_3'UTR	p.I299I	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	918	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	299					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.897C>T	CCDS187.1																																																																																				0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			31	97	0	0	0	1	0	31	97					A	19181067	G	A	19181067	2	1	44	1	0	0	0	0	0	0	0	1	15615	1048	37	1		1	TAS1R2	1	19181067	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		19181067	230069554	1	5062											
ARID1A	8289	broad.mit.edu	37	chr1	27101098	27101098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttccattccagtttggCcgagaccgtgtctctgcacc	8	14	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4378-4380)ggC>ggT		AT rich interactive domain 1A (SWI-like)							69	73	71					1																	27101098		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101098C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4380C>T	1.37:g.27101098C>T						ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.G1077G	p.G1460G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4751	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1460					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4380C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440456	0.12104	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-10.3623	11.4825	0.50333	0.1412:0.7231:0.1357:0.0	.	.	.	.	S	357	.	.	P	+	1	0	ARID1A	26973685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.537000	0.36083	1.558000	0.49541	0.650000	0.86243	CCG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	350	0	0	0	1	0	5	350					T	27101098	C	T	27101098	2	4	44	1	0	0	0	0	0	0	0	1	913	726	26	2		2	ARID1A	1	27101098	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7920031	27101098	222149523	2	5063											
MECR	51102	broad.mit.edu	37	chr1	29543138	29543138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggattgataggggccGccagcatcttcacacggaca	12	11	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:29543138G>A	ENST00000263702.6	-	2	261	c.236C>T	c.(235-237)gCg>gTg	p.A79V	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Missense_Mutation_p.A3V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	79					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATAGGGGCCGCCAGCATCTT	0.463																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(7-9)gCg>gTg		mitochondrial trans-2-enoyl-CoA reductase							228	228	228					1																	29543138		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29543138G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.236C>T	1.37:g.29543138G>A	ENSP00000263702:p.Ala79Val					MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.A79V	p.A3V	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	2	380	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	79					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.8C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254225	0.95336	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.76854	-0.2805	10	0.42905	T	0.14	.	15.7789	0.78243	0.0:0.0:1.0:0.0	.	79	Q9BV79	MECR_HUMAN	V	3;79	ENSP00000362896:A3V;ENSP00000263702:A79V	ENSP00000263702:A79V	A	-	2	0	MECR	29415725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.434000	0.90294	2.798000	0.96311	0.650000	0.86243	GCG		0.463	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		6	922	0	0	0	1	0	6	922					A	29543138	G	A	29543138	3	1	44	1	0	0	0	0	1	0	0	0	9465	1087	38	1	921	1	MECR	1	29543138	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2442040	29543138	219707483	3	5064											
MAP7D1	55700	broad.mit.edu	37	chr1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttaaagccgagcaacgcCgtgcagccctggaggaacgg	14	12	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000373151.2	+	4	793	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R193C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	193					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGAGCAACGCCGTGCAGCCCT	0.627																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(577-579)Cgt>Tgt		MAP7 domain containing 1							23	22	22					1																	36638181		2202	4299	6501	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36638181C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.577C>T	1.37:g.36638181C>T	ENSP00000362244:p.Arg193Cys					MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR	p.R193C			Q3KQU3	MA7D1_HUMAN			4	1030	+		Myeloproliferative disorder(586;0.0393)	193					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.577C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006474	0.74932	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.41	2.07	0.26955	.	0.000000	0.36167	N	0.002748	T	0.35278	0.0926	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.21861	-1.0233	10	0.87932	D	0	-9.3369	13.1246	0.59346	0.5338:0.4662:0.0:0.0	.	193;193;193	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	C	154;193;193;193	ENSP00000390091:R154C;ENSP00000320228:R193C;ENSP00000362243:R193C;ENSP00000362244:R193C	ENSP00000320228:R193C	R	+	1	0	MAP7D1	36410768	0.998000	0.40836	0.921000	0.36526	0.840000	0.47671	1.949000	0.40313	0.590000	0.29694	0.655000	0.94253	CGT		0.627	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		34	79	0	0	0	1	0	34	79					T	36638181	C	T	36638181	3	4	44	1	0	0	0	0	1	0	0	0	9308	652	23	1	591	1	MAP7D1	1	36638181	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7095043	36638181	212612440	4	5065											
GRIK3	2899	broad.mit.edu	37	chr1	37346245	37346245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacccacctgtactgtcGtcatagaccacggtggctga	11	14	1	2	rs377438243		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTGTACTGTCGTCATAGACCA	0.612																																						ENST00000373091.3																			2	Substitution - coding silent(2)	p.D180D(2)	large_intestine(2)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(538-540)gaC>gaT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						259	247	251					1																	37346245		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346245G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.540C>T	1.37:g.37346245G>A						GRIK3_ENST00000373093.4_Silent_p.D180D	p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	556	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	180					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.540C>T	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		31	1105	0	0	0	1	0	31	1105					A	37346245	G	A	37346245	2	1	44	1	0	0	0	0	0	0	0	1	6805	1136	40	1		1	GRIK3	1	37346245	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	708064	37346245	211904376	5	5066											
SNIP1	79753	broad.mit.edu	37	chr1	38003368	38003370	+	In_Frame_Del	DEL	TCC	TCC	-													gctagctgtcagacacttctTcctcctcctcctcatcctcg							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:38003368_38003370delTCC	ENST00000296215.6	-	4	1242_1244	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	390	Poly-Glu.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1168-1173)gaa>ga		Smad nuclear interacting protein 1																																				SO:0001651	inframe_deletion	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003368_38003370delTCC		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1170_1172delGGA	1.37:g.38003377_38003379delTCC	ENSP00000296215:p.Glu392del						p.EE390del	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1242_1244	-		Myeloproliferative disorder(586;0.0393)	390			Poly-Glu.		Q96SP9|Q9H9T7	In_Frame_Del	DEL	ENST00000296215.6	37	c.1170_1172delGGA	CCDS419.1																																																																																				0.448	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		8	609						8	609	---	---	---	---	-	38003370	TCC	-	38003368	7	5	44	1	0	1	0	1	0	0	0	0	14898	1783	62	0	22	0	SNIP1	1	38003368	In_Frame_Del	DEL	TCC	TCGA-F2-A8YN-01A-11D-A377-08	657123	38003368	211247253	6	5067											
AGBL4	84871	broad.mit.edu	37	chr1	49511348	49511348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgagtgtatgtatatgGgtagcagtaagcaaactggt	14	4	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:49511348G>A	ENST00000371839.1	-	5	618	c.502C>T	c.(502-504)Cca>Tca	p.P168S	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	168					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TATGTATATGGGTAGCAGTAA	0.458																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(502-504)Cca>Tca		ATP/GTP binding protein-like 4							121	106	110					1																	49511348		692	1591	2283	SO:0001583	missense	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49511348G>A	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.502C>T	1.37:g.49511348G>A	ENSP00000360905:p.Pro168Ser					AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S	p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	5	618	-			168					B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	c.502C>T	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863043	0.91511	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.29142	1.58;1.58;1.58	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.82526	-0.0413	9	.	.	.	-8.6338	18.6038	0.91259	0.0:0.0:1.0:0.0	.	180;13;168	Q5VU57-2;B1AMW2;Q5VU57	.;.;CBPC6_HUMAN	S	168;162;168;168	ENSP00000360905:P168S;ENSP00000360904:P168S;ENSP00000360902:P168S	.	P	-	1	0	AGBL4	49283935	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.444000	0.97578	2.640000	0.89533	0.563000	0.77884	CCA		0.458	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		13	42	0	0	0	1	0	13	42					A	49511348	G	A	49511348	3	1	44	1	0	0	0	0	1	0	0	0	377	1232	43	2	1049	2	AGBL4	1	49511348	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11507980	49511348	199739273	7	5068											
SGIP1	84251	broad.mit.edu	37	chr1	67147697	67147697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttctgatacatccccGgaacatgttactccggagtt	7	11	1	1	rs146689605	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:67147697G>A	ENST00000371037.4	+	15	1037	c.960G>A	c.(958-960)ccG>ccA	p.P320P	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATACATCCCCGGAACATGTTA	0.522																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(958-960)ccG>ccA		SH3-domain GRB2-like (endophilin) interacting protein 1		G		2,4404	4.2+/-10.8	0,2,2201	108	114	112		960	4.7	1	1	dbSNP_134	112	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SGIP1	NM_032291.2		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		320/829	67147697	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147697G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.960G>A	1.37:g.67147697G>A						SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	p.P320P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1037	+			320			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.960G>A	CCDS30744.1																																																																																				0.522	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		5	850	0	0	0	1	0	5	850					A	67147697	G	A	67147697	2	1	44	1	0	0	0	0	0	0	0	1	14256	1103	39	1		1	SGIP1	1	67147697	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	17636349	67147697	182102924	8	5069											
WDR63	126820	broad.mit.edu	37	chr1	85575766	85575766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaacaagtttagaccaCtgtccaaccaagataagcct	8	10	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000370596.1_Silent_p.H539H|WDR63_ENST00000326813.8_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	578										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTTTAGACCACTGTCCAACCA	0.388																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1732-1734)caC>caT		WD repeat domain 63							128	124	125					1																	85575766		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85575766C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1734C>T	1.37:g.85575766C>T						WDR63_ENST00000370596.1_Silent_p.H539H|WDR63_ENST00000326813.8_Silent_p.H539H	p.H578H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	16	1914	+			578					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.1734C>T	CCDS702.1																																																																																				0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		137	381	0	0	0	1	0	137	381					T	85575766	C	T	85575766	2	4	44	1	0	0	0	0	0	0	0	1	17368	564	20	2		2	WDR63	1	85575766	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	18428069	85575766	163674855	9	5070											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-													ttgaagcttactttctgtccAaaaaaaatatattcaggtaa							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65	66	66					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	461						7	461	---	---	---	---	-	109276138	A	-	109276138	7	5	44	1	0	1	0	1	0	0	0	0	5998	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-F2-A8YN-01A-11D-A377-08	23700372	109276138	139974483	10	5071											
DENND2C	163259	broad.mit.edu	37	chr1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttccctttggaaaacaCgctccccacgctcagtgaca	8	14	1	1	rs566142081		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	845	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAAACACGCTCCCCACG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15650	0.0		0.0	False		,,,				2504	0.0					ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2533-2535)cGt>cAt		DENN/MADD domain containing 2C							104	88	93					1																	115130471		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115130471C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2534G>A	1.37:g.115130471C>T	ENSP00000376955:p.Arg845His					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H	p.R845H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3159	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	845			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2534G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902121	0.92035	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.48201	0.82;0.82;0.82	5.9	5.9	0.94986	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.79123	2.44	0.27020	N	0.964491	D;P	0.89917	1.0;0.952	D;P	0.75484	0.986;0.629	T	0.59989	-0.7350	10	0.87932	D	0	.	13.5289	0.61611	0.0:0.929:0.0:0.071	.	845;788	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	788;845;845;733	ENSP00000376957:R788H;ENSP00000376955:R845H;ENSP00000376958:R733H	ENSP00000358553:R845H	R	-	2	0	DENND2C	114931994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.847000	0.62867	2.817000	0.96982	0.551000	0.68910	CGT		0.478	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		5	309	0	0	0	1	0	5	309					T	115130471	C	T	115130471	3	4	44	1	0	0	0	0	1	0	0	0	4446	536	19	1	264	1	DENND2C	1	115130471	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	5854333	115130471	134120150	11	5072											
GBA	2629	broad.mit.edu	37	chr1	155210420	155210420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgccttgactcactcaCctgatgcccacgacactgcc	6	19	2	2	rs104886460	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000428024.3_Intron|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GACTCACTCACCTGATGCCCA	0.527									Gaucher disease type I				c|||	2	0.000399361	0.0	0.0	5008	,	,		19041	0.001		0.001	False		,,,				2504	0.0					ENST00000327247.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CS920754|CS982204	GBA	S	rs104886460	c.e3+1		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						197	180	185					1																	155210420		2203	4300	6503	SO:0001630	splice_region_variant	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155210420C>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.115+1G>A	1.37:g.155210420C>T						GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000428024.2_Intron|GBA_ENST00000427500.2_Splice_Site|GBA_ENST00000493842.1_Splice_Site		NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	348	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Splice_Site	SNP	ENST00000327247.5	37		CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045608	0.75846	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9121	0.47114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153477044	1.000000	0.71417	0.857000	0.33713	0.875000	0.50365	2.207000	0.42788	2.024000	0.59613	0.591000	0.81541	.		0.527	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157	Intron	8	787	0	0	0	1	0	8	787					T	155210420	C	T	155210420	5	4	44	1	0	0	0	0	0	0	1	0	6294	521	18	2	1534	2	GBA	1	155210420	Splice_Site	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	40079949	155210420	94040201	12	5073											
GBA	2629	broad.mit.edu	37	chr1	155210490	155210490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatgatgcttaccctacTcaaaggcttgggacattcct	8	12	1	1	rs1141804		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210490T>C	ENST00000327247.5	-	3	278	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000428024.3_Intron|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000427500.3_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	16					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CTTACCCTACTCAAAGGCTTG	0.547									Gaucher disease type I																													ENST00000327247.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(46-48)Agt>Ggt		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						164	152	156					1																	155210490		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155210490T>C	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.46A>G	1.37:g.155210490T>C	ENSP00000314508:p.Ser16Gly					GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000428024.2_Intron|GBA_ENST00000427500.2_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR	p.S16G	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	278	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		16					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.46A>G	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715410	0.03206	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	D;D;D;D	0.99239	-5.52;-5.61;-5.61;-5.61	3.32	0.256	0.15567	.	0.478549	0.15720	N	0.247929	D	0.85605	0.5735	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.84644	0.0697	10	0.02654	T	1	.	6.3179	0.21200	0.0:0.4975:0.0:0.5025	rs1141804;rs3205613;rs17405269	16;16;16	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	G	16	ENSP00000402577:S16G;ENSP00000357357:S16G;ENSP00000314508:S16G;ENSP00000445560:S16G	ENSP00000314508:S16G	S	-	1	0	GBA	153477114	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.049000	0.11924	-0.301000	0.08882	-0.930000	0.02707	AGT		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		7	610	0	0	0	1	0	7	610					C	155210490	T	C	155210490	3	2	44	1	0	0	0	0	1	0	0	0	6294	1551	54	4	1604	4	GBA	1	155210490	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	70	155210490	94040131	13	5074											
PKLR	5313	broad.mit.edu	37	chr1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatatccccctcaccggCcagttgtggtcagcacaatg	8	16	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000342741.4	-	9	1471	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	PKLR_ENST00000392414.3_Missense_Mutation_p.G447D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478	Allosteric activator binding.				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)			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)	CCCTCACCGGCCAGTTGTGGT	0.607																																						ENST00000392414.3																			0				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						c.(1339-1341)gGc>gAc		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						79	72	75					1																	155262971		2203	4300	6503	SO:0001583	missense	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.chr1:155262971C>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.1433G>A	1.37:g.155262971C>T	ENSP00000339933:p.Gly478Asp					PKLR_ENST00000342741.4_Missense_Mutation_p.G478D	p.G447D	NM_181871.3	NP_870986.1	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)		9	1453	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		478					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1340G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527546	0.85706	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99842	-7.1;-7.1	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98965	4.385	0.80722	D	1	P;P	0.42993	0.797;0.797	P;P	0.56474	0.799;0.799	D	0.95923	0.8932	10	0.87932	D	0	.	12.9735	0.58525	0.0:1.0:0.0:0.0	.	478;469	P30613;B1AVT1	KPYR_HUMAN;.	D	503;447;478;392	ENSP00000376214:G447D;ENSP00000339933:G478D	ENSP00000271946:G392D	G	-	2	0	PKLR	153529595	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.601000	0.82783	2.530000	0.85305	0.561000	0.74099	GGC		0.607	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		9	352	0	0	0	1	0	9	352					T	155262971	C	T	155262971	3	4	44	1	0	0	0	0	1	0	0	0	12018	739	26	2	303	2	PKLR	1	155262971	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	52481	155262971	93987650	14	5075											
ASH1L	55870	broad.mit.edu	37	chr1	155408246	155408246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatttacactctgaacAacagcctcaattacatctgt	4	11	4	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTCTGAACAACAGCCTCAA	0.453																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5698-5700)gtT>gtC		ash1 (absent, small, or homeotic)-like (Drosophila)							118	108	112					1																	155408246		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408246A>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5700T>C	1.37:g.155408246A>G						ASH1L_ENST00000392403.3_Silent_p.V1900V	p.V1900V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6339	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1900					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.5700T>C																																																																																					0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		107	267	0	0	0	1	0	107	267					G	155408246	A	G	155408246	2	3	44	1	0	0	0	0	0	0	0	1	1042	117	5	4		4	ASH1L	1	155408246	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	145275	155408246	93842375	15	5076											
ARHGEF11	9826	broad.mit.edu	37	chr1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttagggaagaacggtagCcacttgtccttgtcaggagc	13	9	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000361409.2	-	18	2266	c.1524G>A	c.(1522-1524)tgG>tgA	p.W508*	ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.W548*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	508					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACGGTAGCCACTTGTCCT	0.552																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1642-1644)tgG>tgA		Rho guanine nucleotide exchange factor (GEF) 11							170	153	159					1																	156926239		2203	4300	6503	SO:0001587	stop_gained	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156926239C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1524G>A	1.37:g.156926239C>T	ENSP00000354644:p.Trp508*					ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508*	p.W548*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			19	2683	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		508					D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	37	c.1644G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	45	11.401996	0.99556	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.82	4.82	0.62117	.	0.131135	0.35739	N	0.003012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.8078	17.6896	0.88266	0.0:1.0:0.0:0.0	.	.	.	.	X	548;508	.	ENSP00000354644:W508X	W	-	3	0	ARHGEF11	155192863	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.502000	0.84385	0.585000	0.79938	TGG		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		15	623	0	0	0	1	0	15	623					T	156926239	C	T	156926239	4	4	44	1	0	0	0	0	0	1	0	0	896	740	26	2	3136	2	ARHGEF11	1	156926239	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	1517993	156926239	92324382	16	5077											
ETV3L	440695	broad.mit.edu	37	chr1	157068573	157068573	+	Silent	SNP	C	C	T													agcagcaagtggggggatggCggcgcccgcacttcccacaa							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137					cell differentiation (GO:0030154)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(409-411)ccG>ccA		ets variant 3-like							62	68	66					1																	157068573		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068573C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.411G>A	1.37:g.157068573C>T							p.P137P	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	695	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	137						Silent	SNP	ENST00000454449.2	37	c.411G>A	CCDS30893.1																																																																																				0.592	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		6	367	0	0	0	1	0	6	367					T	157068573	C	T	157068573	2	4	44	1	0	0	0	0	0	0	0	1	5298	755	27	1		1	ETV3L	1	157068573	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	142334	157068573	92182048	17	5078	36	2									
ETV3L	440695	broad.mit.edu	37	chr1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A													gtggggggatggcggcgcccGcacttcccacaaaggatagt							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135					cell differentiation (GO:0030154)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(403-405)Cgg>Tgg		ets variant 3-like							82	87	85					1																	157068581		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068581G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.403C>T	1.37:g.157068581G>A	ENSP00000430271:p.Arg135Trp						p.R135W	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	687	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	135						Missense_Mutation	SNP	ENST00000454449.2	37	c.403C>T	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125687	0.37533	.	.	ENSG00000253831	ENST00000454449	T	0.55413	0.52	4.61	0.269	0.15631	.	2.538740	0.02278	N	0.069120	T	0.18299	0.0439	N	0.20986	0.625	0.24495	N	0.994285	B	0.13145	0.007	B	0.09377	0.004	T	0.14643	-1.0465	10	0.51188	T	0.08	.	6.0065	0.19549	0.2498:0.0:0.617:0.1332	.	135	Q6ZN32	ETV3L_HUMAN	W	135	ENSP00000430271:R135W	ENSP00000430271:R135W	R	-	1	2	ETV3L	155335205	0.000000	0.05858	0.903000	0.35520	0.821000	0.46438	0.367000	0.20382	0.255000	0.21593	0.655000	0.94253	CGG		0.577	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		6	412	0	0	0	1	0	6	412					A	157068581	G	A	157068581	3	1	44	1	0	0	0	0	1	0	0	0	5298	1086	38	1	694	1	ETV3L	1	157068581	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	8	157068581	92182040	18	5079	36	2									
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-													tctcccagtcccgcaaaggcTtttccccctccgctgcctcc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202	226	218					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		8	1921						8	1921	---	---	---	---	-	158151257	T	-	158151257	7	5	44	1	0	1	0	1	0	0	0	0	2986	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-F2-A8YN-01A-11D-A377-08	1082676	158151257	91099364	19	5080											
OR10X1	128367	broad.mit.edu	37	chr1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattcttctaaaagcattttTcatgtccttattcctcaggc	4	11	4	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGCATTTTTCATGTCCTTA	0.438																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(931-933)Aaa>Taa		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							124	130	128					1																	158548759		2203	4300	6503	SO:0001587	stop_gained	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548759T>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.931A>T	1.37:g.158548759T>A	ENSP00000357132:p.Lys311*						p.K311*	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	930	-	all_hematologic(112;0.0378)		311					Q6IFR8	Nonsense_Mutation	SNP	ENST00000368150.1	37	c.931A>T	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490702	0.44249	.	.	ENSG00000186400	ENST00000368150	.	.	.	4.5	3.29	0.37713	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.46458	D	0.99905	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3298	0.38014	0.0:0.0:0.1795:0.8205	.	.	.	.	X	311	.	ENSP00000357132:K311X	K	-	1	0	OR10X1	156815383	0.876000	0.30132	0.997000	0.53966	0.423000	0.31445	2.291000	0.43540	2.001000	0.58596	0.460000	0.39030	AAA		0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		42	554	0	0	0	1	0	42	554					A	158548759	T	A	158548759	4	1	44	1	0	0	0	0	0	1	0	0	10964	1792	62	5	44	5	OR10X1	1	158548759	Nonsense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	397502	158548759	90701862	20	5081											
SPTA1	6708	broad.mit.edu	37	chr1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcacctgctcagatcGgccatcgacttcatgtgcaa	9	14	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368147.4	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1551					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)			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)					TGCTCAGATCGGCCATCGACT	0.438																																						ENST00000368148.3																			0				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						c.(4651-4653)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							91	91	91					1																	158612287		1973	4162	6135	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.chr1:158612287G>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.4651C>T	1.37:g.158612287G>A	ENSP00000357129:p.Arg1551*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R1551*	p.R1551*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			33	4831	-	all_hematologic(112;0.0378)		1551					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.4651C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	44	11.051605	0.99508	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.26	3.36	0.38483	.	0.337334	0.16870	N	0.196178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.5799	0.22588	0.083:0.0:0.4906:0.4264	.	.	.	.	X	1551	.	ENSP00000357129:R1551X	R	-	1	2	SPTA1	156878911	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	3.911000	0.56378	0.768000	0.33290	-0.136000	0.14681	CGA		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	465	0	0	0	1	0	11	465					A	158612287	G	A	158612287	4	1	44	1	0	0	0	0	0	1	0	0	15168	1124	39	1	2688	1	SPTA1	1	158612287	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	63528	158612287	90638334	21	5082											
OLFML2B	25903	broad.mit.edu	37	chr1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgtagctatccacgGcatacagcaccccacagatg	10	13	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562																																						ENST00000294794.3																			2	Substitution - Missense(2)	p.A685V(2)	lung(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2053-2055)gCc>gTc		olfactomedin-like 2B							267	245	252					1																	161953664		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953664G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2054C>T	1.37:g.161953664G>A	ENSP00000294794:p.Ala685Val					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V	p.A685V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2477	-	all_hematologic(112;0.156)		685			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.2054C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009105	0.75046	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87179	-2.22;-2.22;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.88709	0.6510	L	0.46741	1.465	0.44373	D	0.997279	D;P	0.89917	1.0;0.917	D;P	0.87578	0.998;0.817	D	0.86127	0.1572	8	0.25106	T	0.35	.	16.5695	0.84607	0.0:0.0:1.0:0.0	.	686;685	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	685;686;168	ENSP00000294794:A685V;ENSP00000356917:A686V;ENSP00000356915:A168V	ENSP00000294794:A685V	A	-	2	0	OLFML2B	160220288	1.000000	0.71417	0.766000	0.31476	0.396000	0.30629	9.726000	0.98782	2.491000	0.84063	0.561000	0.74099	GCC		0.562	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		6	645	0	0	0	1	0	6	645					A	161953664	G	A	161953664	3	1	44	1	0	0	0	0	1	0	0	0	10900	1203	42	2	202	2	OLFML2B	1	161953664	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3341377	161953664	87296957	22	5083											
KIF3C	3797	broad.mit.edu	37	chr2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-													atgggctggggcgggcggtgGttgttgttgttgtcatcctc					rs370364677		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1321-1323)del		kinesin family member 3C				2,4264		0,2,2131						1.5	1			92	6,8248		0,6,4121	no	coding	KIF3C	NM_002254.6		0,8,6252	A1A1,A1R,RR		0.0727,0.0469,0.0639				8,12512				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203464_26203466delGTT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1321_1323delAAC	2.37:g.26203473_26203475delGTT	ENSP00000264712:p.Asn441del					KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1900_1902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Poly-Asn.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1321_1323delAAC	CCDS1719.1																																																																																				0.621	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			7	627						7	627	---	---	---	---	-	26203466	GTT	-	26203464	7	5	44	1	0	1	0	1	0	0	0	0	8332	1252	44	0	1090	0	KIF3C	2	26203464	In_Frame_Del	DEL	GTT	TCGA-F2-A8YN-01A-11D-A377-08		26203464	216995909	23	5084											
THADA	63892	broad.mit.edu	37	chr2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatacttctccaacaaCataccagcaccatctgcgca	3	17	3	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1052										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAACAACATACCAGCAC	0.413																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(3154-3156)tGt>tAt		thyroid adenoma associated							242	242	242					2																	43768407		2018	4189	6207	SO:0001583	missense	63892						binding	g.chr2:43768407C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3155G>A	2.37:g.43768407C>T	ENSP00000385995:p.Cys1052Tyr					THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y	p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			21	3506	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1052					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3155G>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.564569|3.564569	0.65651|0.65651	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66519|0.66519	0.2797|0.2797	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	0.998;1.0;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.988;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	762;1053;762;1052|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	Y|I	762;1052;1053;762;1052|366	ENSP00000331105:C762Y;ENSP00000386088:C1052Y;ENSP00000416048:C762Y;ENSP00000385995:C1052Y|.	ENSP00000331105:C762Y|.	C|V	-|-	2|1	0|0	THADA|THADA	43621911|43621911	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.998000|0.998000	0.95712|0.95712	6.179000|6.179000	0.71974|0.71974	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.413	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		202	581	0	0	0	1	0	202	581					T	43768407	C	T	43768407	3	4	44	1	0	0	0	0	1	0	0	0	15892	478	17	2	2778	2	THADA	2	43768407	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	17564943	43768407	199430966	24	5085											
BCL11A	53335	broad.mit.edu	37	chr2	60688454	60688454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccacgcccacgaccgcGccccgcgagctgttctcgtg	11	20	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	531					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGACCGCGCCCCGCGAGC	0.697			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1591-1593)ggC>ggT		B-cell CLL/lymphoma 11A (zinc finger protein)							9	10	10					2																	60688454		2182	4231	6413	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688454G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1593C>T	2.37:g.60688454G>A						BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G	p.G531G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1820	-			531					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1593C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544002	0.04024	.	.	ENSG00000119866	ENST00000378117	.	.	.	4.08	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5491	0.27786	0.1139:0.0:0.8861:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60541958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.605000	0.24179	1.307000	0.44944	0.650000	0.86243	.		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		4	68	0	0	0	1	0	4	68					A	60688454	G	A	60688454	2	1	44	1	0	0	0	0	0	0	0	1	1364	1074	38	1		1	BCL11A	2	60688454	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	16920047	60688454	182510919	25	5086											
ALMS1	7840	broad.mit.edu	37	chr2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccctctctggaggaggGcatattgacgcaatcagaaa	10	11	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D|ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	193					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGAGGAGGGCATATTGACG	0.418																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(577-579)gGc>gAc		Alstrom syndrome 1							137	132	134					2																	73646378		1848	4097	5945	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73646378G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.578G>A	2.37:g.73646378G>A	ENSP00000264448:p.Gly193Asp					ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D|ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D	p.G193D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			3	689	+			193					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.578G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849757	0.17034	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.42513	2.07;1.81;0.97	4.51	2.69	0.31865	.	0.196490	0.25372	N	0.031150	T	0.30978	0.0782	L	0.36672	1.1	0.20703	N	0.999867	B;B	0.27498	0.18;0.18	B;B	0.31442	0.13;0.13	T	0.28522	-1.0041	10	0.87932	D	0	.	5.4853	0.16747	0.1022:0.0:0.7002:0.1976	.	151;193	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	D	151;193;193	ENSP00000386627:G151D;ENSP00000264448:G193D;ENSP00000366944:G193D	ENSP00000264448:G193D	G	+	2	0	ALMS1	73499886	0.941000	0.31946	0.353000	0.25747	0.203000	0.24098	1.499000	0.35671	0.623000	0.30267	0.655000	0.94253	GGC		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	671	0	0	0	1	0	6	671					A	73646378	G	A	73646378	3	1	44	1	0	0	0	0	1	0	0	0	535	1203	42	2	588	2	ALMS1	2	73646378	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	12957924	73646378	169552995	26	5087											
STEAP3	55240	broad.mit.edu	37	chr2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgcttgccgctgcgcCgcgcccaccgctacgacctg	11	19	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	327	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGCTGCGCCGCGCCCACCG	0.647																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(979-981)Cgc>Tgc		STEAP family member 3, metalloreductase							32	31	31					2																	120005741		2145	4206	6351	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005741C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.979C>T	2.37:g.120005741C>T	ENSP00000346961:p.Arg327Cys					STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C	p.R327C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1483	+			327			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.979C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619547	0.46736	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.73	3.83	0.44106	Flavoprotein transmembrane component (1);	0.229211	0.38959	N	0.001514	D	0.94434	0.8209	M	0.78801	2.425	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.74023	0.982;0.969;0.745	D	0.94067	0.7332	9	.	.	.	-17.2643	13.0647	0.59025	0.1787:0.8213:0.0:0.0	.	327;337;327	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	327;327;327;337;327;327;327;327	ENSP00000376820:R327C;ENSP00000346961:R327C;ENSP00000396873:R327C;ENSP00000376822:R337C;ENSP00000376818:R327C;ENSP00000386510:R327C;ENSP00000376819:R327C;ENSP00000396214:R327C	.	R	+	1	0	STEAP3	119722211	1.000000	0.71417	0.975000	0.42487	0.152000	0.21847	1.719000	0.38011	1.150000	0.42419	0.561000	0.74099	CGC		0.647	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	227	0	0	0	1	0	11	227					T	120005741	C	T	120005741	3	4	44	1	0	0	0	0	1	0	0	0	15331	652	23	1	1019	1	STEAP3	2	120005741	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	46359363	120005741	123193632	27	5088											
WDR33	55339	broad.mit.edu	37	chr2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcttacctttgcctcctCggtcttcagaagggcctcct	8	15	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1257					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCCTCCTCGGTCTTCAGA	0.612																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3769-3771)cGa>cAa		WD repeat domain 33							126	126	126					2																	128466262		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466262C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3770G>A	2.37:g.128466262C>T	ENSP00000325377:p.Arg1257Gln						p.R1257Q	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	21	3928	-	Colorectal(110;0.1)		1257					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3770G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759078	0.89843	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.04	5.04	0.67666	.	0.077936	0.51477	D	0.000094	T	0.78496	0.4292	N	0.14661	0.345	0.80722	D	1	P	0.48998	0.918	B	0.32533	0.147	T	0.81357	-0.0969	10	0.48119	T	0.1	-9.4874	11.5723	0.50841	0.0:0.8202:0.1798:0.0	.	1257	Q9C0J8	WDR33_HUMAN	Q	1257	ENSP00000325377:R1257Q	ENSP00000325377:R1257Q	R	-	2	0	WDR33	128182732	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.410000	0.44592	2.640000	0.89533	0.655000	0.94253	CGA		0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		138	339	0	0	0	1	0	138	339					T	128466262	C	T	128466262	3	4	44	1	0	0	0	0	1	0	0	0	17341	884	31	1	248	1	WDR33	2	128466262	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	8460521	128466262	114733111	28	5089											
LRP1B	53353	broad.mit.edu	37	chr2	141200074	141200074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtcacagacactcaccGcagttggcctcgtctgatgc	10	14	3	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.e66+1		low density lipoprotein receptor-related protein 1B							140	127	131					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200074G>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.10414+1C>T	2.37:g.141200074G>A		TSP Lung(27;0.18)					p.C3471_splice	NM_018557.2	NP_061027.2	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)	66	11384	-		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)	3471			LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.10414_splice	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	11	325	0	0	0	1	0	11	325					A	141200074	G	A	141200074	5	1	44	1	0	0	0	0	0	0	1	0	8993	1101	38	1	3490	1	LRP1B	2	141200074	Splice_Site	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	12733812	141200074	101999299	29	5090											
LRP1B	53353	broad.mit.edu	37	chr2	141267495	141267495	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctggccagtgttcatAccgcagcctgctgtggaaag	12	13	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)			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)		CAGTGTTCATACCGCAGCCTG	0.512										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.e52+1		low density lipoprotein receptor-related protein 1B							121	104	110					2																	141267495		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141267495A>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.8398+1T>C	2.37:g.141267495A>G		TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	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)	52	9370	-		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)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	31	5.096901	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140983965	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.852000	0.92215	2.371000	0.80710	0.533000	0.62120	.		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	6	362	0	0	0	1	0	6	362					G	141267495	A	G	141267495	5	3	44	1	0	0	0	0	0	0	1	0	8993	405	14	4	5559	4	LRP1B	2	141267495	Splice_Site	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	67421	141267495	101931878	30	5091											
XIRP2	129446	broad.mit.edu	37	chr2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttattagagatggttcggGccaaatgctggaaattaaaa	11	4	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					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)				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						GATGGTTCGGGCCAAATGCTG	0.383																																						ENST00000409195.1																			0				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						c.(2245-2247)gGc>gAc		xin actin-binding repeat containing 2							65	60	61					2																	168100148		1856	4088	5944	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100148G>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.2246G>A	2.37:g.168100148G>A	ENSP00000386840:p.Gly749Asp					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	p.G749D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2335	+			574					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2246G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680470	0.68042	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.28666	1.65;1.65;1.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.63260	-0.6677	10	0.56958	D	0.05	-15.5671	19.9164	0.97064	0.0:0.0:1.0:0.0	.	574;574;527	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	749;749;527	ENSP00000386840:G749D;ENSP00000295237:G749D;ENSP00000387255:G527D	ENSP00000295237:G749D	G	+	2	0	XIRP2	167808394	1.000000	0.71417	0.766000	0.31476	0.867000	0.49689	9.106000	0.94253	2.810000	0.96702	0.650000	0.86243	GGC		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	339	0	0	0	1	0	5	339					A	168100148	G	A	168100148	3	1	44	1	0	0	0	0	1	0	0	0	17484	1203	42	2	2276	2	XIRP2	2	168100148	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	26832653	168100148	75099225	31	5092											
CRYGD	1421	broad.mit.edu	37	chr2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagagcatccagcagcCgctgtccacgcgcgccgagt	11	16	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	41	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATCCAGCAGCCGCTGTCCACG	0.662																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(121-123)Ggc>Cgc		crystallin, gamma D							11	13	12					2																	208988967		2173	4247	6420	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208988967C>G		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.121G>C	2.37:g.208988967C>G	ENSP00000264376:p.Gly41Arg						p.G41R	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	148	-			41			Beta/gamma crystallin 'Greek key' 2.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.121G>C	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854297	0.91355	.	.	ENSG00000118231	ENST00000264376	D	0.92752	-3.1	4.35	4.35	0.52113	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98877	1.0768	10	0.87932	D	0	.	14.3998	0.67034	0.0:1.0:0.0:0.0	.	41	P07320	CRGD_HUMAN	R	41	ENSP00000264376:G41R	ENSP00000264376:G41R	G	-	1	0	CRYGD	208697212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.730000	0.68546	2.245000	0.73994	0.491000	0.48974	GGC		0.662	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		6	97	0	0	0	1	0	6	97					G	208988967	C	G	208988967	3	3	44	1	0	0	0	0	1	0	0	0	3926	652	23	5	411	5	CRYGD	2	208988967	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	40888819	208988967	34210406	32	5093											
USP37	57695	broad.mit.edu	37	chr2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatgaacatacctgattgtCtgagtaagaaagctgcctgc	9	8	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000258399.3	-	6	833	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	141					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTGATTGTCTGAGTAAGAA	0.488																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(421-423)Gac>Tac		ubiquitin specific peptidase 37							104	108	107					2																	219414540		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219414540C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.421G>T	2.37:g.219414540C>A	ENSP00000258399:p.Asp141Tyr					USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y	p.D141Y	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	6	833	-		Renal(207;0.0915)	141					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.421G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191379	0.58017	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.49139	0.92;0.92;0.92;0.92;0.79	5.03	5.03	0.67393	.	0.164432	0.53938	D	0.000059	T	0.44787	0.1310	N	0.08118	0	0.45354	D	0.998346	D;P;P	0.59767	0.986;0.904;0.845	P;P;B	0.57152	0.814;0.542;0.254	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.609	16.7819	0.85565	0.0:1.0:0.0:0.0	.	141;69;141	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	Y	141;141;69;141;141	ENSP00000258399:D141Y;ENSP00000393662:D141Y;ENSP00000400902:D69Y;ENSP00000396585:D141Y;ENSP00000345043:D141Y	ENSP00000258399:D141Y	D	-	1	0	USP37	219122784	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.725000	0.61979	2.640000	0.89533	0.579000	0.79373	GAC		0.488	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		49	193	1	0	1.21353e-23	1	1.28904e-23	49	193					A	219414540	C	A	219414540	3	1	44	1	0	0	0	0	1	0	0	0	17122	913	32	3	2602	3	USP37	2	219414540	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	10425573	219414540	23784833	33	5094											
SP140	11262	broad.mit.edu	37	chr2	231174695	231174695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggagctgttctgttgCgacacttgttcaagagtctt	14	7	3	1	rs186449912	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000350136.5_Silent_p.C574C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	705					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0					ENST00000392045.3																			1	Substitution - coding silent(1)	p.C705C(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(2113-2115)tgC>tgT		SP140 nuclear body protein		C		3,4367	4.2+/-10.8	0,3,2182	179	192	188		2115	-4.4	0	2		188	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous	SP140	NM_007237.4		0,7,6472	TT,TC,CC		0.0466,0.0686,0.054		705/868	231174695	7,12951	2185	4294	6479	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231174695C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2115C>T	2.37:g.231174695C>T						SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000343805.6_Silent_p.C645C	p.C705C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	23	2229	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	705					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.2115C>T	CCDS42831.1																																																																																				0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		101	334	0	0	0	1	0	101	334					T	231174695	C	T	231174695	2	4	44	1	0	0	0	0	0	0	0	1	15012	776	27	1		1	SP140	2	231174695	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11760155	231174695	12024678	34	5095											
CSRNP1	64651	broad.mit.edu	37	chr3	39186715	39186715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctacacggcctgggcGctcccggcgagcccgcttca	13	16	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:39186715G>A	ENST00000273153.5	-	3	415	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R80C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	80					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CGGCCTGGGCGCTCCCGGCGA	0.577																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(238-240)Cgc>Tgc		cysteine-serine-rich nuclear protein 1							53	52	52					3																	39186715		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186715G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.238C>T	3.37:g.39186715G>A	ENSP00000273153:p.Arg80Cys					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R80C	p.R80C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	415	-			80					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.238C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247799	0.59103	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.47177	0.85;0.85	4.49	3.54	0.40534	.	0.202517	0.39083	N	0.001477	T	0.64450	0.2599	M	0.77313	2.365	0.22081	N	0.999376	D	0.89917	1.0	D	0.69824	0.966	T	0.54675	-0.8258	10	0.87932	D	0	-34.3617	9.3661	0.38226	0.0:0.128:0.6767:0.1953	.	80	Q96S65	CSRN1_HUMAN	C	80	ENSP00000273153:R80C;ENSP00000422532:R80C	ENSP00000273153:R80C	R	-	1	0	CSRNP1	39161719	0.013000	0.17824	0.652000	0.29579	0.988000	0.76386	0.951000	0.29135	2.494000	0.84150	0.462000	0.41574	CGC		0.577	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		8	214	0	0	0	1	0	8	214					A	39186715	G	A	39186715	3	1	44	1	0	0	0	0	1	0	0	0	3974	1087	38	1	1543	1	CSRNP1	3	39186715	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		39186715	158835715	35	5096											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	13	7	0	0	rs183048924	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20296	0.001		0.0	False		,,,				2504	0.0					ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1195-1197)tgC>tgT		kelch repeat and BTB (POZ) domain containing 8							190	176	181					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T						KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	p.C399C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1197C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		6	747	0	0	0	1	0	6	747					T	67054666	C	T	67054666	2	4	44	1	0	0	0	0	0	0	0	1	8029	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	27867951	67054666	130967764	36	5097											
ROBO1	6091	broad.mit.edu	37	chr3	78666996	78666996	+	Silent	SNP	G	G	A													ctctccaggtccccaacactGgaggcaggtgtctgctcaag							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000464233.1	-	27	4184	c.4071C>T	c.(4069-4071)tcC>tcT	p.S1357S	ROBO1_ENST00000436010.2_Silent_p.S1318S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000467549.1_Silent_p.S1257S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					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)			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)		CCCCAACACTGGAGGCAGGTG	0.572																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3952-3954)tcC>tcT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							63	72	69					3																	78666996		1999	4167	6166	SO:0001819	synonymous_variant	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.chr3:78666996G>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.4071C>T	3.37:g.78666996G>A						ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000464233.1_Silent_p.S1357S|ROBO1_ENST00000467549.1_Silent_p.S1257S	p.S1318S			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)	25	4951	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1357					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3954C>T	CCDS54611.1																																																																																				0.572	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	193	0	0	0	1	0	9	193					A	78666996	G	A	78666996	2	1	44	1	0	0	0	0	0	0	0	1	13563	1335	47	2		2	ROBO1	3	78666996	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11612330	78666996	119355434	37	5098	37	2									
ROBO1	6091	broad.mit.edu	37	chr3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T													tctccaggtccccaacactgGaggcaggtgtctgctcaagc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000464233.1	-	27	4183	c.4070C>A	c.(4069-4071)tCc>tAc	p.S1357Y	ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					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)			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)		CCCAACACTGGAGGCAGGTGT	0.572																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3952-3954)tCc>tAc		roundabout, axon guidance receptor, homolog 1 (Drosophila)							63	72	69					3																	78666997		2002	4167	6169	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.chr3:78666997G>T	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.4070C>A	3.37:g.78666997G>T	ENSP00000420321:p.Ser1357Tyr					ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.S1357Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y	p.S1318Y			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)	25	4950	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1357					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3953C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730379	0.69074	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.72051	-0.4;-0.44;-0.47;-0.62	5.68	5.68	0.88126	.	0.101670	0.64402	D	0.000001	T	0.78375	0.4273	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.71674	0.997;0.956;0.998;0.988;0.996	D;P;D;P;P	0.80764	0.994;0.577;0.924;0.805;0.875	T	0.74836	-0.3529	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1321;1357;1312;1257;1318	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Y	1318;1312;1357;1312;1257;1361	ENSP00000406043:S1318Y;ENSP00000420321:S1357Y;ENSP00000420637:S1312Y;ENSP00000417992:S1257Y	.	S	-	2	0	ROBO1	78749687	1.000000	0.71417	0.992000	0.48379	0.310000	0.27922	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	TCC		0.572	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	194	1	0	0.000442599	1	0.000452057	9	194					T	78666997	G	T	78666997	3	4	44	1	0	0	0	0	1	0	0	0	13563	1174	41	3	905	3	ROBO1	3	78666997	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1	78666997	119355433	38	5099	37	2									
OR5H1	26341	broad.mit.edu	37	chr3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttggcaacgatggcatAtgatcgctatgtagccatat	9	9	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACGATGGCATATGATCGCTAT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(358-360)tAt>tGt		olfactory receptor, family 5, subfamily H, member 1							135	132	133					3																	97851900		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851900A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys					RP11-343D2.11_ENST00000508964.1_RNA	p.Y120C	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000354565.2	37	c.359A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		8	1243	0	0	0	1	0	8	1243					G	97851900	A	G	97851900	3	3	44	1	0	0	0	0	1	0	0	0	11201	449	16	4	361	4	OR5H1	3	97851900	Missense_Mutation	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	19184903	97851900	100170530	39	5100											
HCLS1	3059	broad.mit.edu	37	chr3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccatttcattgaagcCgacagcgctctgcaggcagg	12	13	2	1	rs202020296	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	211					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATTGAAGCCGACAGCGCTC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		17939	0.0		0.002	False		,,,				2504	0.0					ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(631-633)Ggc>Agc		hematopoietic cell-specific Lyn substrate 1		C	SER/GLY	0,4406		0,0,2203	86	88	87		631	3	1	3		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/487	121354642	1,13005	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121354642C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.631G>A	3.37:g.121354642C>T	ENSP00000320176:p.Gly211Ser					HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S	p.G211S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	9	722	-			211					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.631G>A	CCDS3003.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	13.00	2.107767	0.37242	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.25414	1.91;1.8	4.76	2.96	0.34315	.	0.252518	0.45606	N	0.000346	T	0.24236	0.0587	L	0.35542	1.07	0.53688	D	0.999973	P;D	0.56746	0.952;0.977	B;P	0.48952	0.334;0.596	T	0.02632	-1.1131	10	0.72032	D	0.01	-9.5433	9.1271	0.36821	0.0:0.8154:0.0:0.1846	.	174;211	E7EVW7;P14317	.;HCLS1_HUMAN	S	211;174	ENSP00000320176:G211S;ENSP00000387645:G174S	ENSP00000320176:G211S	G	-	1	0	HCLS1	122837332	0.914000	0.31030	0.979000	0.43373	0.580000	0.36256	1.597000	0.36729	1.357000	0.45904	-0.150000	0.13652	GGC		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		23	303	0	0	0	1	0	23	303					T	121354642	C	T	121354642	3	4	44	1	0	0	0	0	1	0	0	0	7025	652	23	1	853	1	HCLS1	3	121354642	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	23502742	121354642	76667788	40	5101											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	9	9	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)						143	142	142					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His					CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron	p.R85H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	370	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		6	741	0	0	0	1	0	6	741					A	121822548	G	A	121822548	3	1	44	1	0	0	0	0	1	0	0	0	3052	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	467906	121822548	76199882	41	5102											
ADCY5	111	broad.mit.edu	37	chr3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagcccacagacccGcttctgggtgcagcgcagga	13	17	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000462833.1	-	7	3157	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACAGACCCGCTTCTGGGTG	0.627																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1945-1947)Cgg>Tgg		adenylate cyclase 5							39	37	37					3																	123046467		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046467G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1945C>T	3.37:g.123046467G>A	ENSP00000419361:p.Arg649Trp					ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W	p.R649W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	7	3157	-			649					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1945C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998117	0.74818	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;D;D;T	0.82526	-1.23;-1.62;-1.6;-1.49	5.2	4.27	0.50696	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000003	D	0.89434	0.6714	M	0.79123	2.44	0.80722	D	1	P;D	0.76494	0.837;0.999	B;P	0.61275	0.326;0.886	D	0.90581	0.4529	10	0.66056	D	0.02	.	15.0194	0.71617	0.0:0.0:0.7655:0.2345	.	649;282	O95622;B3KWA8	ADCY5_HUMAN;.	W	649;282;299;208	ENSP00000419361:R649W;ENSP00000418537:R282W;ENSP00000308685:R299W;ENSP00000420082:R208W	ENSP00000308685:R299W	R	-	1	2	ADCY5	124529157	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	1.013000	0.29937	2.578000	0.87016	0.655000	0.94253	CGG		0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		49	62	0	0	0	1	0	49	62					A	123046467	G	A	123046467	3	1	44	1	0	0	0	0	1	0	0	0	297	1086	38	1	1900	1	ADCY5	3	123046467	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1223919	123046467	74975963	42	5103											
MYLK	4638	broad.mit.edu	37	chr3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctcagcaggcttggCgttgcccacgggtttcaagg	15	11	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000475616.1	-	15	3084	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T			Q15746	MYLK_HUMAN	myosin light chain kinase	1029	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCACG	0.607																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3085-3087)Gcc>Acc		myosin light chain kinase							124	129	127					3																	123419230		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419230C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3085G>A	3.37:g.123419230C>T	ENSP00000418335:p.Ala1029Thr					MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T	p.A1029T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3463	-		Lung NSC(201;0.0496)	1029			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3085G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443824	0.12164	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.70869	-0.52;-0.45;-0.52;-0.49;-0.45	5.44	0.483	0.16820	.	.	.	.	.	T	0.67135	0.2861	M	0.75264	2.295	0.29840	N	0.829312	D;P;D;B;P;B	0.59767	0.986;0.951;0.978;0.021;0.955;0.011	P;B;P;B;B;B	0.48770	0.589;0.371;0.501;0.013;0.322;0.006	T	0.60016	-0.7345	9	0.20046	T	0.44	.	2.1129	0.03707	0.1236:0.4786:0.12:0.2778	.	1029;107;960;1029;960;1029	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1029;1029;1029;960;1029	ENSP00000354004:A1029T;ENSP00000353452:A1029T;ENSP00000352088:A1029T;ENSP00000320622:A960T;ENSP00000418335:A1029T	ENSP00000320622:A960T	A	-	1	0	MYLK	124901920	0.022000	0.18835	0.020000	0.16555	0.051000	0.14879	0.057000	0.14279	-0.205000	0.10219	0.455000	0.32223	GCC		0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		201	543	0	0	0	1	0	201	543					T	123419230	C	T	123419230	3	4	44	1	0	0	0	0	1	0	0	0	10097	768	27	1	2727	1	MYLK	3	123419230	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	372763	123419230	74603200	43	5104											
ISY1	57461	broad.mit.edu	37	chr3	128859253	128859253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccaggcaaatcttttgCtgctccaaagtacttgtaac	6	11	1	0	rs566531045		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:128859253C>T	ENST00000393295.3	-	7	693	c.376G>A	c.(376-378)Gca>Aca	p.A126T	ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	126					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AAATCTTTTGCTGCTCCAAAG	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18059	0.001		0.0	False		,,,				2504	0.0					ENST00000418265.1																			0											c.(376-378)Gca>Aca									203	189	193					3																	128859253		1842	4079	5921	SO:0001583	missense	0					catalytic step 2 spliceosome		g.chr3:128859253C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.376G>A	3.37:g.128859253C>T	ENSP00000376973:p.Ala126Thr					ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1_ENST00000393295.3_Missense_Mutation_p.A126T	p.A126T	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN			7	436	-			126					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.376G>A	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462755	0.96257	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	H	0.95982	3.75	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	0.90111	0.4192	10	0.87932	D	0	.	17.2241	0.86964	0.0:1.0:0.0:0.0	.	126;126;126	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	T	126;126;126;64;126	ENSP00000273541:A126T	ENSP00000273541:A126T	A	-	1	0	ISY1	130341943	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.214000	0.77958	2.663000	0.90544	0.591000	0.81541	GCA		0.368	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		6	727	0	0	0	1	0	6	727					T	128859253	C	T	128859253	3	4	44	1	0	0	0	0	1	0	0	0	7896	797	28	2	501	2	ISY1	3	128859253	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	5440023	128859253	69163177	44	5105											
SRPRB	58477	broad.mit.edu	37	chr3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggcaaaatcagcaaagTtaattcaacagcagctggag	9	8	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	192					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)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATCAGCAAAGTTAATTCAACA	0.348																																						ENST00000466490.2																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(574-576)Tta>Gta		signal recognition particle receptor, B subunit							99	104	102					3																	133535748		2203	4299	6502	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133535748T>G	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.574T>G	3.37:g.133535748T>G	ENSP00000418401:p.Leu192Val						p.L192V	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			7	859	+			192					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.574T>G	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288295	0.05605	.	.	ENSG00000144867	ENST00000466490	T	0.15487	2.42	5.48	1.59	0.23543	.	0.156463	0.41605	D	0.000858	T	0.07548	0.0190	N	0.21373	0.66	0.43091	D	0.994765	B	0.21452	0.056	B	0.25884	0.064	T	0.28933	-1.0028	10	0.02654	T	1	-8.2866	3.628	0.08120	0.1767:0.3842:0.0:0.4392	.	192	Q9Y5M8	SRPRB_HUMAN	V	192	ENSP00000418401:L192V	ENSP00000418401:L192V	L	+	1	2	SRPRB	135018438	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	0.797000	0.26999	0.389000	0.25086	-0.256000	0.11100	TTA		0.348	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			7	771	0	0	0	1	0	7	771					G	133535748	T	G	133535748	3	3	44	1	0	0	0	0	1	0	0	0	15215	1722	60	4	596	4	SRPRB	3	133535748	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	4676495	133535748	64486682	45	5106											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108	110	110					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	525	0	0	0	1	0	5	525					T	152554482	C	T	152554482	3	4	44	1	0	0	0	0	1	0	0	0	11388	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	19018734	152554482	45467948	46	5107											
SST	6750	broad.mit.edu	37	chr3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttccagggcatcattctCcgtctggttgggttcagaca	12	10	4	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(190-192)Gag>Aag		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						243	224	230					3																	187387014		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387014C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.190G>A	3.37:g.187387014C>T	ENSP00000287641:p.Glu64Lys						p.E64K	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	297	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		64					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.190G>A	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696829	0.68386	.	.	ENSG00000157005	ENST00000287641	T	0.38401	1.14	5.51	4.64	0.57946	.	0.045481	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82323	2.585	0.52099	D	0.999948	P	0.46784	0.884	B	0.41466	0.358	T	0.55897	-0.8068	10	0.87932	D	0	-17.0825	13.4703	0.61278	0.0:0.9249:0.0:0.0751	.	64	P61278	SMS_HUMAN	K	64	ENSP00000287641:E64K	ENSP00000287641:E64K	E	-	1	0	SST	188869708	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	4.650000	0.61440	1.334000	0.45468	0.305000	0.20034	GAG		0.522	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		177	913	0	0	0	1	0	177	913					T	187387014	C	T	187387014	3	4	44	1	0	0	0	0	1	0	0	0	15248	864	30	2	164	2	SST	3	187387014	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	34832532	187387014	10635416	47	5108											
ALB	213	broad.mit.edu	37	chr4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatccttacttttatgCcccggaactccttttctttg	5	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000503124.1	+	3	281	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000415165.2_Intron			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACTTTTATGCCCCGGAACTC	0.353																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(523-525)gCc>gTc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						69	74	72					4																	74275113		2203	4299	6502	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74275113C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.74C>T	4.37:g.74275113C>T	ENSP00000421027:p.Ala25Val					ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.A25V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A60V	p.A175V	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	613	+	Breast(15;0.00102)		175			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.524C>T		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699939	0.48307	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.55	-0.616	0.11583	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472937	0.21303	N	0.076761	T	0.82061	0.4955	M	0.68593	2.085	0.37386	D	0.912251	D;P;B;P	0.71674	0.998;0.914;0.39;0.726	D;B;B;B	0.67103	0.949;0.146;0.049;0.075	D	0.85061	0.0934	10	0.72032	D	0.01	-5.329	21.3573	0.99952	0.0:0.3196:0.6804:0.0	.	60;25;175;175	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	V	177;175;25;175;60;184	ENSP00000392541:A177V;ENSP00000295897:A175V;ENSP00000421027:A25V;ENSP00000422784:A175V;ENSP00000384695:A60V	ENSP00000295897:A175V	A	+	2	0	ALB	74493977	0.924000	0.31332	0.958000	0.39756	0.913000	0.54294	0.021000	0.13489	-0.357000	0.08175	-0.282000	0.10007	GCC		0.353	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		5	529	0	0	0	1	0	5	529					T	74275113	C	T	74275113	3	4	44	1	0	0	0	0	1	0	0	0	486	739	26	2	542	2	ALB	4	74275113	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		74275113	116879163	48	5109											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	109	0	0	0	1	0	5	109					T	140811108	C	T	140811108	2	4	44	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	66535995	140811108	50343168	49	5110											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000448662.2_Intron	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	1058	0	0	0	1	0	7	1058					A	186544317	G	A	186544317	3	1	44	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	45733209	186544317	4609959	50	5111											
C9	735	broad.mit.edu	37	chr5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggttacagagtccattgtaGaactcattgtcaaaaggtgt	10	7	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	176	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCCATTGTAGAACTCATTGT	0.438																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(526-528)ttC>ttG		complement component 9							199	194	196					5																	39331865		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331865G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.528C>G	5.37:g.39331865G>C	ENSP00000263408:p.Phe176Leu					C9_ENST00000509186.1_5'UTR	p.F176L	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	623	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	176			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.528C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205577	0.58234	.	.	ENSG00000113600	ENST00000263408	T	0.33438	1.41	5.72	4.74	0.60224	Membrane attack complex component/perforin (MACPF) domain (1);	0.573755	0.19914	N	0.103230	T	0.22551	0.0544	L	0.45581	1.43	0.41407	D	0.987719	P	0.42456	0.78	B	0.38106	0.265	T	0.02909	-1.1095	10	0.37606	T	0.19	-8.041	4.5426	0.12066	0.2863:0.0:0.7137:0.0	.	176	P02748	CO9_HUMAN	L	176	ENSP00000263408:F176L	ENSP00000263408:F176L	F	-	3	2	C9	39367622	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.003000	0.49505	2.709000	0.92574	0.561000	0.74099	TTC		0.438	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			35	511	0	0	0	1	0	35	511					C	39331865	G	C	39331865	3	2	44	1	0	0	0	0	1	0	0	0	2450	933	33	5	1179	5	C9	5	39331865	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		39331865	141583395	51	5112											
SLC30A5	64924	broad.mit.edu	37	chr5	68400512	68400512	+	Frame_Shift_Del	DEL	T	T	-													gtattatttcactcttgtggTtttttggcctcactctttgt							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:68400512delT	ENST00000396591.3	+	4	938	c.328delT	c.(328-330)tttfs	p.F111fs	SLC30A5_ENST00000380860.4_3'UTR	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	111					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ACTCTTGTGGTTTTTTGGCCT	0.279																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(328-330)ttfs		solute carrier family 30 (zinc transporter), member 5							153	152	152					5																	68400512		2203	4300	6503	SO:0001589	frameshift_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68400512delT	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.328delT	5.37:g.68400512delT	ENSP00000379836:p.Phe111fs					SLC30A5_ENST00000380860.4_3'UTR	p.F111fs	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	938	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	111					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Frame_Shift_Del	DEL	ENST00000396591.3	37	c.328delT	CCDS3996.1																																																																																				0.279	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			7	839						7	839	---	---	---	---	-	68400512	T	-	68400512	7	5	44	1	0	1	0	1	0	0	0	0	14608	1725	60	0	430	0	SLC30A5	5	68400512	Frame_Shift_Del	DEL	T	TCGA-F2-A8YN-01A-11D-A377-08	29068647	68400512	112514748	52	5113											
SNCAIP	9627	broad.mit.edu	37	chr5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggatggcaacagtgccGttcacgtagcctcacagcat	10	13	2	0	rs185518611		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261368.8	+	7	1643	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	461					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.0					ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1522-1524)Gtt>Att		synuclein, alpha interacting protein							149	141	143					5																	121776408		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121776408G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1381G>A	5.37:g.121776408G>A	ENSP00000261368:p.Val461Ile					SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000504884.2_3'UTR	p.V508I			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	9	2950	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	461					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1522G>A	CCDS4131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.95	2.689844	0.48097	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T;T;T	0.63913	-0.03;0.71;0.71;0.71;0.71;1.48;0.71;1.48;-0.07	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.124143	0.53938	D	0.000052	T	0.66479	0.2793	N	0.13327	0.33	0.54753	D	0.999981	B;P;P;P;D;B;D;P;D	0.89917	0.381;0.947;0.924;0.853;0.999;0.236;1.0;0.953;1.0	B;P;B;B;D;B;D;B;D	0.70487	0.117;0.5;0.32;0.444;0.917;0.016;0.947;0.382;0.969	T	0.71031	-0.4710	10	0.54805	T	0.06	-17.0364	18.9919	0.92796	0.0:0.0:1.0:0.0	.	401;89;63;508;401;95;95;508;461	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;.;SNCAP_HUMAN	I	19;401;461;508;401;95;508;63;101;508	ENSP00000441681:V19I;ENSP00000422106:V401I;ENSP00000261368:V461I;ENSP00000368848:V508I;ENSP00000368851:V401I;ENSP00000368854:V95I;ENSP00000261367:V508I;ENSP00000394392:V63I;ENSP00000423199:V508I	ENSP00000261367:V508I	V	+	1	0	SNCAIP	121804307	1.000000	0.71417	0.159000	0.22649	0.060000	0.15804	9.178000	0.94855	2.721000	0.93114	0.655000	0.94253	GTT		0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			5	490	0	0	0	1	0	5	490					A	121776408	G	A	121776408	3	1	44	1	0	0	0	0	1	0	0	0	14891	1145	40	1	1403	1	SNCAIP	5	121776408	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	53375896	121776408	59138852	53	5114											
PCDHB6	56130	broad.mit.edu	37	chr5	140530477	140530477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctaacgctgatcgcGctggatggcgggtctccgcc	14	14	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	213	Cadherin 2. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGATCGCGCTGGATGGCG	0.602																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(637-639)gcG>gcA									53	57	56					5																	140530477		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530477G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.639G>A	5.37:g.140530477G>A						PCDHB6_ENST00000543635.1_Silent_p.A77A	p.A213A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	639	+			213			Cadherin 2.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.639G>A	CCDS4248.1																																																																																				0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		88	200	0	0	0	1	0	88	200					A	140530477	G	A	140530477	2	1	44	1	0	0	0	0	0	0	0	1	11588	1074	38	1		1	PCDHB6	5	140530477	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	18754069	140530477	40384783	54	5115											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795043	140795043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctcaccgcggactcGcgaaagagtcacctgatctt	9	14	4	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGACTCGCGAAAGAGTC	0.562																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2299-2301)tcG>tcA									100	108	106					5																	140795043		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795043G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2301G>A	5.37:g.140795043G>A						PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.S767S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2301	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2301G>A	CCDS47292.1																																																																																				0.562	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		140	651	0	0	0	1	0	140	651					A	140795043	G	A	140795043	2	1	44	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCDHGA10	5	140795043	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	264566	140795043	40120217	55	5116											
RMND5B	64777	broad.mit.edu	37	chr5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctgtgattgagcagcGgcagtgcactggggtctgga	17	8	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	308										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGCAGCGGCAGTGCACT	0.577																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(922-924)cGg>cAg		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							96	87	90					5																	177574596		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177574596G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.923G>A	5.37:g.177574596G>A	ENSP00000420875:p.Arg308Gln					RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q	p.R308Q			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1274	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	308					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.923G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360506	0.95877	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.984;0.975	T	0.75897	-0.3155	9	0.38643	T	0.18	-25.4369	17.5078	0.87750	0.0:0.0:1.0:0.0	.	295;295;308	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	308;308;295	.	ENSP00000320623:R308Q	R	+	2	0	RMND5B	177507202	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	9.602000	0.98312	2.724000	0.93272	0.563000	0.77884	CGG		0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		41	135	0	0	0	1	0	41	135					A	177574596	G	A	177574596	3	1	44	1	0	0	0	0	1	0	0	0	13448	1116	39	1	949	1	RMND5B	5	177574596	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	36779553	177574596	3340664	56	5117											
BTN2A2	10385	broad.mit.edu	37	chr6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagctgtcatcctgaccGcatctccctggatggtgtcc	9	16	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000356709.4	+	5	892	c.781G>A	c.(781-783)Gca>Aca	p.A261T	BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	261					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATCCTGACCGCATCTCCCTG	0.463																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(781-783)Gca>Aca		butyrophilin, subfamily 2, member A2							155	146	149					6																	26390289		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26390289G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.781G>A	6.37:g.26390289G>A	ENSP00000349143:p.Ala261Thr					BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T	p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			5	892	+			261					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.781G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	4.517	0.095872	0.08681	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.25007	0.0;0.0;0.116;0.105;0.003;0.0;0.0	B;B;B;B;B;B;B	0.17433	0.0;0.0;0.015;0.018;0.001;0.0;0.0	T	0.40384	-0.9566	9	0.46703	T	0.11	.	5.0603	0.14553	0.248:0.0:0.4881:0.2639	.	51;51;167;145;261;145;261	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	T	261;56;261;145;51;167;56;261;145	ENSP00000417472:A261T;ENSP00000418965:A56T;ENSP00000349143:A261T;ENSP00000337117:A145T;ENSP00000419451:A51T;ENSP00000394241:A167T;ENSP00000417676:A56T;ENSP00000399308:A261T;ENSP00000418176:A145T	ENSP00000337117:A145T	A	+	1	0	BTN2A2	26498268	0.006000	0.16342	0.000000	0.03702	0.059000	0.15707	-0.039000	0.12124	-2.050000	0.00905	-0.600000	0.04104	GCA		0.463	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			5	509	0	0	0	1	0	5	509					A	26390289	G	A	26390289	3	1	44	1	0	0	0	0	1	0	0	0	1565	1087	38	1	795	1	BTN2A2	6	26390289	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		26390289	144724778	57	5118											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		7	242						7	242	---	---	---	---	-	30653496	TGC	-	30653494	7	5	44	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-F2-A8YN-01A-11D-A377-08	4263205	30653494	140461573	58	5119											
BAT2	7916	broad.mit.edu	37	chr6	31597338	31597340	+	In_Frame_Del	DEL	AGC	AGC	-													ttcctaggagcagctcctgaAgcagcagcagcagcaccagt					rs199833002		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31597338_31597340delAGC	ENST00000376033.2	+	14	2204_2206	c.1970_1972delAGC	c.(1969-1974)aagcag>aag	p.Q661del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.Q661del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	661	4 X 57 AA type A repeats.|Poly-Gln.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTCCTGAagcagcagcagca	0.567																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1969-1974)aag>a		proline-rich coiled-coil 2A																																				SO:0001651	inframe_deletion	7916					cytoplasm|nucleus	protein binding	g.chr6:31597338_31597340delAGC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1970_1972delAGC	6.37:g.31597347_31597349delAGC	ENSP00000365201:p.Gln661del					PRRC2A_ENST00000376007.4_In_Frame_Del_p.KQ657del	p.KQ657del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			14	2204_2206	+			657			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	c.1970_1972delAGC	CCDS4708.1																																																																																				0.567	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	1177						7	1177	---	---	---	---	-	31597340	AGC	-	31597338	7	5	44	1	0	1	0	1	0	0	0	0	1320	72	3	0	2020	0	BAT2	6	31597338	In_Frame_Del	DEL	AGC	TCGA-F2-A8YN-01A-11D-A377-08	943844	31597338	139517729	59	5120											
CFB	629	broad.mit.edu	37	chr6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatacattggcaaggatcGcaaaaacccaagggaggatt	11	8	0	0	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000425368.2	+	9	1757	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000477310.1_Missense_Mutation_p.R766H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	415	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522																																						ENST00000456570.1																			1	Substitution - Missense(1)	p.R415H(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2749-2751)cGc>cAc		complement factor B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	76	77		1244	0.9	0.9	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	CFB	NM_001710.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	415/765	31917095	1,13005	2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917095G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1244G>A	6.37:g.31917095G>A	ENSP00000416561:p.Arg415His					CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H	p.R917H			P00751	CFAB_HUMAN			21	2805	+			415					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2750G>A	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.19|11.19	1.566586|1.566586	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.|T;T;T;T	.|0.78003	.|-1.14;-1.14;-1.14;-1.14	5.95|5.95	0.899|0.899	0.19271|0.19271	.|von Willebrand factor, type A (3);	.|0.469789	.|0.20245	.|N	.|0.096201	T|T	0.51618|0.51618	0.1685|0.1685	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30361	.|0.277;0.021;0.02	.|B;B;B	.|0.19391	.|0.025;0.005;0.003	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.37606	.|T	.|0.19	-10.0671|-10.0671	4.8511|4.8511	0.13537|0.13537	0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0	.|.	.|917;415;415	.|B4E1Z4;P00751;P00751-2	.|.;CFAB_HUMAN;.	T|H	28|917;415;917;766	.|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H	.|ENSP00000416561:R415H	A|R	+|+	1|2	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	0.000000|0.000000	0.05858|0.05858	0.886000|0.886000	0.34754|0.34754	0.262000|0.262000	0.26303|0.26303	-0.106000|-0.106000	0.10890|0.10890	0.127000|0.127000	0.18452|0.18452	-0.119000|-0.119000	0.15052|0.15052	GCA|CGC		0.522	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		4	313	0	0	0	1	0	4	313					A	31917095	G	A	31917095	3	1	44	1	0	0	0	0	1	0	0	0	3287	1087	38	1	1278	1	CFB	6	31917095	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	319757	31917095	139197972	60	5121											
TNXB	7148	broad.mit.edu	37	chr6	32017099	32017099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctcgtggaggccGtacagatgcatcttgtattt	11	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB	3280	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGATGCA	0.697																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9703-9705)taC>taT		tenascin XB							42	45	44					6																	32017099		1278	2541	3819	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017099G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9705C>T	6.37:g.32017099G>A						TNXB_ENST00000375247.2_Silent_p.Y3233Y	p.Y3235Y			P22105	TENX_HUMAN			28	9906	-			3280			Fibronectin type-III 24.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9705C>T																																																																																					0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		11	339	0	0	0	1	0	11	339					A	32017099	G	A	32017099	2	1	44	1	0	0	0	0	0	0	0	1	16398	1140	40	1		1	TNXB	6	32017099	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	100004	32017099	139097968	61	5122											
PACSIN1	29993	broad.mit.edu	37	chr6	34499564	34499564	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctcagctttaaggccGgtaggacggctgggcggggc	18	10	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:34499564G>A	ENST00000538621.1	+	9	1470	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PACSIN1_ENST00000244458.2_Splice_Site_p.G409R|PACSIN1_ENST00000374043.2_Splice_Site_p.G367R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	409	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTAAGGCCGGTAGGACGGC	0.657																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.e9+1		protein kinase C and casein kinase substrate in neurons 1							53	58	56					6																	34499564		2203	4300	6503	SO:0001630	splice_region_variant	0				endocytosis		protein kinase activity	g.chr6:34499564G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1225+1G>A	6.37:g.34499564G>A						PACSIN1_ENST00000374043.2_Splice_Site_p.G367_splice|PACSIN1_ENST00000244458.2_Splice_Site_p.G409_splice	p.G409_splice	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1470	+			409			SH3.		Q9P2G8	Splice_Site	SNP	ENST00000538621.1	37	c.1225_splice	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012484	0.93346	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.70045	-0.45;-0.45;-0.45	4.83	4.83	0.62350	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89421	0.3710	10	0.87932	D	0	-13.6373	17.7009	0.88294	0.0:0.0:1.0:0.0	.	409	Q9BY11	PACN1_HUMAN	R	409;367;409;409	ENSP00000244458:G409R;ENSP00000363155:G367R;ENSP00000439639:G409R	ENSP00000244458:G409R	G	+	1	0	PACSIN1	34607542	1.000000	0.71417	0.967000	0.41034	0.641000	0.38312	9.221000	0.95188	2.523000	0.85059	0.561000	0.74099	GGA		0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1		Missense_Mutation	5	493	0	0	0	1	0	5	493					A	34499564	G	A	34499564	5	1	44	1	0	0	0	0	0	0	1	0	11416	1130	39	1	1255	1	PACSIN1	6	34499564	Splice_Site	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2482465	34499564	136615503	62	5123											
CUL9	23113	broad.mit.edu	37	chr6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagactgaacagggttttgCgccacgagcagaattttgct	11	10	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4042-4044)Cgc>Tgc		cullin 9							168	160	163					6																	43171608		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171608C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4042C>T	6.37:g.43171608C>T	ENSP00000252050:p.Arg1348Cys					CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			20	4126	+			1348					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4042C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076813	0.76415	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75477	-0.94;-0.94;-0.82	5.37	4.44	0.53790	.	0.534882	0.21714	N	0.070239	T	0.77198	0.4095	L	0.52573	1.65	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.99;0.99	T	0.78828	-0.2050	10	0.87932	D	0	-24.8198	10.945	0.47296	0.1444:0.7162:0.1394:0.0	.	1238;1348;1348	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1348;1238;1348	ENSP00000252050:R1348C;ENSP00000346490:R1238C;ENSP00000361730:R1348C	ENSP00000252050:R1348C	R	+	1	0	CUL9	43279586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.185000	0.42584	2.659000	0.90383	0.655000	0.94253	CGC		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	1125	0	0	0	1	0	7	1125					T	43171608	C	T	43171608	3	4	44	1	0	0	0	0	1	0	0	0	4072	768	27	1	4116	1	CUL9	6	43171608	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	8672044	43171608	127943459	63	5124											
RUNX2	860	broad.mit.edu	37	chr6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacagcagcagcagcaaCagcagcagcagcagcagcaa							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(175-177)del		runt-related transcription factor 2																																				SO:0001651	inframe_deletion	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390446_45390448delCAG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del					RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	533_535	+			71			Poly-Gln.		O14614|O14615|O95181	In_Frame_Del	DEL	ENST00000371438.1	37	c.175_177delCAG	CCDS43467.2																																																																																				0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	154						7	154	---	---	---	---	-	45390448	CAG	-	45390446	7	5	44	1	0	1	0	1	0	0	0	0	13798	479	17	0	197	0	RUNX2	6	45390446	In_Frame_Del	DEL	CAG	TCGA-F2-A8YN-01A-11D-A377-08	2218838	45390446	125724621	64	5125											
FUT9	10690	broad.mit.edu	37	chr6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagtatctgaaggaagtcGacaaaaacaataagttatac	7	6	1	1	rs371644802		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0				Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(916-918)Gac>Aac		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)		G	ASN/ASP	0,4406		0,0,2203	82	82	82		916	5.5	1	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUT9	NM_006581.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	306/360	96651947	1,13005	2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651947G>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.916G>A	6.37:g.96651947G>A	ENSP00000302599:p.Asp306Asn						p.D306N	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1242	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	306					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.916G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466121	0.63625	0.0	1.16E-4	ENSG00000172461	ENST00000302103	T	0.29142	1.58	5.5	5.5	0.81552	.	0.045414	0.85682	D	0.000000	T	0.29423	0.0733	M	0.65975	2.015	0.58432	D	0.999995	P	0.47762	0.9	P	0.48304	0.573	T	0.08472	-1.0720	10	0.59425	D	0.04	-18.0675	11.7939	0.52088	0.0799:0.0:0.9201:0.0	.	306	Q9Y231	FUT9_HUMAN	N	306	ENSP00000302599:D306N	ENSP00000302599:D306N	D	+	1	0	FUT9	96758668	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.690000	0.84178	2.586000	0.87340	0.467000	0.42956	GAC		0.368	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		95	161	0	0	0	1	0	95	161					A	96651947	G	A	96651947	3	1	44	1	0	0	0	0	1	0	0	0	6138	1058	37	1	918	1	FUT9	6	96651947	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	51261501	96651947	74463120	65	5126											
SEC63	11231	broad.mit.edu	37	chr6	108234626	108234626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccgggactcttcatccGttaaactagcatcaaaagaa	6	10	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:108234626G>A	ENST00000369002.4	-	5	637	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	153	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.T153M(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTCTTCATCCGTTAAACTAGC	0.358																																						ENST00000369002.4																			1	Substitution - Missense(1)	p.T153M(1)	large_intestine(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(457-459)aCg>aTg		SEC63 homolog (S. cerevisiae)							117	124	122					6																	108234626		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108234626G>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.458C>T	6.37:g.108234626G>A	ENSP00000357998:p.Thr153Met						p.T153M	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	5	637	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	153			J.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.458C>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669755	0.88348	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.32272	1.46;1.46	5.61	5.61	0.85477	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	L	0.48935	1.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.40213	-0.9575	10	0.87932	D	0	-13.809	19.6401	0.95754	0.0:0.0:1.0:0.0	.	153;153	Q9UGP8;B3KQF0	SEC63_HUMAN;.	M	153;13;97	ENSP00000357998:T153M;ENSP00000403144:T97M	ENSP00000357998:T153M	T	-	2	0	SEC63	108341319	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.072000	0.93986	2.643000	0.89663	0.555000	0.69702	ACG		0.358	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		6	1040	0	0	0	1	0	6	1040					A	108234626	G	A	108234626	3	1	44	1	0	0	0	0	1	0	0	0	14055	1145	40	1	1892	1	SEC63	6	108234626	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11582679	108234626	62880441	66	5127											
CD164	8763	broad.mit.edu	37	chr6	109690132	109690132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctgcacacccaagacCaggacaattcctccaatgaa	6	15	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000310786.4	-	6	581	c.516G>A	c.(514-516)ctG>ctA	p.L172L	CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000324953.5_Silent_p.L153L	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	172					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CACCCAAGACCAGGACAATTC	0.388																																						ENST00000368961.5																			0				breast(1)|lung(2)	3						c.(418-420)ctG>ctA		CD164 molecule, sialomucin							104	94	97					6																	109690132		2203	4300	6503	SO:0001819	synonymous_variant	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109690132C>T	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.516G>A	6.37:g.109690132C>T						CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000512821.1_Intron|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000310786.4_Silent_p.L172L|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L	p.L140L			Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	4	600	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	172			Thr-rich.		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	ENST00000310786.4	37	c.420G>A	CCDS5073.1																																																																																				0.388	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		138	109	0	0	0	1	0	138	109					T	109690132	C	T	109690132	2	4	44	1	0	0	0	0	0	0	0	1	2978	581	21	2		2	CD164	6	109690132	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	1455506	109690132	61424935	67	5128											
LAMA4	3910	broad.mit.edu	37	chr6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgatgtctctcaccacgGcataaccggagccatcgaag	10	12	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1058	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTCACCACGGCATAACCGGA	0.488																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3172-3174)gCc>gTc		laminin, alpha 4							195	184	188					6																	112460431		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112460431G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3173C>T	6.37:g.112460431G>A	ENSP00000230538:p.Ala1058Val					LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V	p.A1058V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	24	3570	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1058			Laminin G-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3173C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180380	0.57800	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.092613	0.85682	D	0.000000	D	0.86360	0.5914	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.86224	0.1633	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1058;1051	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1058;1051;1051;1051	ENSP00000230538:A1058V;ENSP00000429488:A1051V;ENSP00000374114:A1051V;ENSP00000416470:A1051V	ENSP00000230538:A1058V	A	-	2	0	LAMA4	112567124	1.000000	0.71417	0.889000	0.34880	0.034000	0.12701	4.986000	0.63851	2.838000	0.97847	0.655000	0.94253	GCC		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	395	0	0	0	1	0	5	395					A	112460431	G	A	112460431	3	1	44	1	0	0	0	0	1	0	0	0	8639	1203	42	2	2362	2	LAMA4	6	112460431	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2770299	112460431	58654636	68	5129											
OLIG3	167826	broad.mit.edu	37	chr6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcatccgcttgcgttcgCgtccgttgatcttcagcctc	10	15	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	91	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTGCGTTCGCGTCCGTTGAT	0.617																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(271-273)cGc>cAc		oligodendrocyte transcription factor 3							133	100	112					6																	137815036		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815036C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.272G>A	6.37:g.137815036C>T	ENSP00000356708:p.Arg91His						p.R91H	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	495	-	Breast(32;0.165)|Colorectal(23;0.24)		91					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.272G>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044310	0.75732	.	.	ENSG00000177468	ENST00000367734	T	0.73789	-0.78	5.44	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.069292	0.53938	D	0.000052	D	0.88262	0.6389	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.91956	0.5575	10	0.87932	D	0	-1.623	14.2214	0.65830	0.0:0.9275:0.0:0.0725	.	91	Q7RTU3	OLIG3_HUMAN	H	91	ENSP00000356708:R91H	ENSP00000356708:R91H	R	-	2	0	OLIG3	137856729	1.000000	0.71417	0.706000	0.30403	0.994000	0.84299	6.087000	0.71362	1.287000	0.44583	0.591000	0.81541	CGC		0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		78	480	0	0	0	1	0	78	480					T	137815036	C	T	137815036	3	4	44	1	0	0	0	0	1	0	0	0	10904	768	27	1	550	1	OLIG3	6	137815036	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	25354605	137815036	33300031	69	5130											
STX11	8676	broad.mit.edu	37	chr6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtggccgacgtgaagCggctgggaaagcagaacgcc	17	10	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CGACGTGAAGCGGCTGGGAAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(190-192)Cgg>Tgg		syntaxin 11							36	34	35					6																	144507954		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507954C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.190C>T	6.37:g.144507954C>T	ENSP00000356540:p.Arg64Trp						p.R64W	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	373	+			64					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.190C>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830098	0.50845	.	.	ENSG00000135604	ENST00000367568	T	0.18960	2.18	5.99	5.99	0.97316	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.41645	-0.9497	10	0.87932	D	0	-32.9952	15.6832	0.77388	0.1375:0.8624:0.0:0.0	.	64	O75558	STX11_HUMAN	W	64	ENSP00000356540:R64W	ENSP00000356540:R64W	R	+	1	2	STX11	144549647	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	2.859000	0.48364	2.840000	0.97914	0.655000	0.94253	CGG		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			11	135	0	0	0	1	0	11	135					T	144507954	C	T	144507954	3	4	44	1	0	0	0	0	1	0	0	0	15389	759	27	1	192	1	STX11	6	144507954	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	6692918	144507954	26607113	70	5131											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	12	17	1	0	rs562134831	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000397829.4_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		4	85	0	0	0	1	0	4	85					A	167796320	G	A	167796320	2	1	44	1	0	0	0	0	0	0	0	1	15762	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	23288366	167796320	3318747	71	5132											
HOXA9	3205	broad.mit.edu	37	chr7	27203297	27203297	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccagatcttgacctgCctctcggtgaggttgagcag	13	10	2	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:27203297C>G	ENST00000343483.6	-	2	816	c.744G>C	c.(742-744)agG>agC	p.R248S	RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	248					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCTTGACCTGCCTCTCGGTGA	0.483			T	"NUP98, MSI2"	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"NUP98, MSI2"		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(742-744)agG>agC		homeobox A9							137	137	137					7																	27203297		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203297C>G		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.744G>C	7.37:g.27203297C>G	ENSP00000343619:p.Arg248Ser					HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	p.R248S	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	816	-			248					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.744G>C	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876027	0.72180	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96427	-4.01;-4.01	5.21	3.01	0.34805	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.96626	0.8899	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95419	0.8505	10	0.87932	D	0	.	4.5519	0.12116	0.0:0.5833:0.0:0.4167	.	248	P31269	HXA9_HUMAN	S	248;172;239;88	ENSP00000343619:R248S;ENSP00000421799:R88S	ENSP00000242050:R239S	R	-	3	2	RP1-170O19.20;HOXA9	27169822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.826000	0.48104	1.349000	0.45751	0.561000	0.74099	AGG		0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			25	505	0	0	0	1	0	25	505					G	27203297	C	G	27203297	3	3	44	1	0	0	0	0	1	0	0	0	7328	738	26	5	78	5	HOXA9	7	27203297	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		27203297	131935366	72	5133											
PDE1C	5137	broad.mit.edu	37	chr7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatctgttccggttgcagGtatttcagagagttgctctc	11	9	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396191.1	-	1	509	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396184.3_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	18					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCGGTTGCAGGTATTTCAGAG	0.502																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(52-54)taC>taA		phosphodiesterase 1C, calmodulin-dependent 70kDa							154	156	156					7																	32109952		2203	4300	6503	SO:0001587	stop_gained	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32109952G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.54C>A	7.37:g.32109952G>T	ENSP00000379494:p.Tyr18*					PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18*	p.Y18*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	258	-			18					B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	ENST00000396191.1	37	c.54C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202601	0.97371	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7686	0.51945	0.0813:0.0:0.9187:0.0	.	.	.	.	X	18	.	ENSP00000318105:Y18X	Y	-	3	2	PDE1C	32076477	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.373000	0.66162	2.706000	0.92434	0.655000	0.94253	TAC		0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			10	543	1	0	0.00829132	1	0.00832616	10	543					T	32109952	G	T	32109952	4	4	44	1	0	0	0	0	0	1	0	0	11677	1256	44	3	1918	3	PDE1C	7	32109952	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	4906655	32109952	127028711	73	5134											
SFRP4	6424	broad.mit.edu	37	chr7	37956044	37956044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccagggcatgtgccgGcacatagggatgcgcaccgc	14	12	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	32	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCATGTGCCGGCACATAGGGA	0.672																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(94-96)tgC>tgT		secreted frizzled-related protein 4							109	89	96					7																	37956044		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956044G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.96C>T	7.37:g.37956044G>A						EPDR1_ENST00000476620.1_Intron	p.C32C	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	473	-			32			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.96C>T	CCDS5453.1																																																																																				0.672	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		5	308	0	0	0	1	0	5	308					A	37956044	G	A	37956044	2	1	44	1	0	0	0	0	0	0	0	1	14213	1195	42	2		2	SFRP4	7	37956044	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	5846092	37956044	121182619	74	5135											
STARD3NL	83930	broad.mit.edu	37	chr7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgttacctcaagaagCagaagaagaaaacagtaagt	9	6	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	180	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCTCAAGAAGCAGAAGAAGAA	0.483																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(538-540)gCa>gGa		STARD3 N-terminal like							135	127	130					7																	38256892		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38256892C>G	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.539C>G	7.37:g.38256892C>G	ENSP00000009041:p.Ala180Gly					STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	p.A180G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			6	796	+			180			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.539C>G	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124761	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000429075	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.93	5.93	0.95920	MENTAL domain (2);	0.150508	0.64402	D	0.000016	T	0.67951	0.2948	M	0.75447	2.3	0.50467	D	0.999874	P;P	0.52692	0.955;0.955	P;P	0.60236	0.871;0.843	T	0.67730	-0.5595	10	0.56958	D	0.05	-9.1947	19.1254	0.93380	0.0:1.0:0.0:0.0	.	162;180	C9JKL2;O95772	.;MENTO_HUMAN	G	180;173;162;180;180;180	ENSP00000009041:A180G;ENSP00000439436:A173G;ENSP00000394000:A162G;ENSP00000379334:A180G;ENSP00000411933:A180G;ENSP00000402028:A180G	ENSP00000009041:A180G	A	+	2	0	STARD3NL	38223417	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.826000	0.97356	0.655000	0.94253	GCA		0.483	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			7	444	0	0	0	1	0	7	444					G	38256892	C	G	38256892	3	3	44	1	0	0	0	0	1	0	0	0	15310	710	25	5	557	5	STARD3NL	7	38256892	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	300848	38256892	120881771	75	5136											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806153	44806157	+	Frame_Shift_Del	DEL	GCCAA	GCCAA	-													agcgtcccggcagtccttggGccaagcgagcttaggaccta					rs563008711		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:44806153_44806157delGCCAA	ENST00000309315.4	+	18	2669_2673	c.2546_2550delGCCAA	c.(2545-2550)ggccaafs	p.GQ849fs	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Frame_Shift_Del_p.GQ849fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Del_p.GQ817fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Del_p.GQ791fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Del_p.GQ823fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	849	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGTCCTTGGGCCAAGCGAGCTTAG	0.654																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2545-2550)gfs		zinc finger, MIZ-type containing 2																																				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806153_44806157delGCCAA	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2546_2550delGCCAA	7.37:g.44806153_44806157delGCCAA	ENSP00000311778:p.Gly849fs					ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Frame_Shift_Del_p.GQ817fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Del_p.GQ791fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Del_p.GQ849fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Del_p.GQ823fs	p.GQ849fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			18	2669_2673	+			849			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Del	DEL	ENST00000309315.4	37	c.2546_2550delGCCAA	CCDS43576.1																																																																																				0.654	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		11	389						11	389	---	---	---	---	-	44806157	GCCAA	-	44806153	7	5	44	1	0	1	0	1	0	0	0	0	17750	1203	42	0	2612	0	ZMIZ2	7	44806153	Frame_Shift_Del	DEL	GCCAA	TCGA-F2-A8YN-01A-11D-A377-08	6549261	44806153	114332510	76	5137											
FKBP6	8468	broad.mit.edu	37	chr7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgttgcttctgcgccggcGatcagcaccccctgaagagc	11	16	2	2	rs374791338		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCGCCGGCGATCAGCACCC	0.537																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(610-612)cGa>cAa		FK506 binding protein 6, 36kDa							56	60	59					7																	72754662		1972	4150	6122	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754662G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.611G>A	7.37:g.72754662G>A	ENSP00000252037:p.Arg204Gln					FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	p.R204Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			6	680	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	204					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.611G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	8.847	0.943556	0.18281	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73897	-0.79;0.51;-0.79;-0.79	4.91	4.02	0.46733	Tetratricopeptide-like helical (1);	0.285857	0.32055	N	0.006641	T	0.50051	0.1593	N	0.21448	0.665	0.09310	N	0.999998	P;B;B	0.37864	0.61;0.185;0.287	B;B;B	0.25140	0.058;0.02;0.047	T	0.39165	-0.9627	10	0.15499	T	0.54	-10.6094	8.5323	0.33342	0.1717:0.0:0.8283:0.0	.	199;204;174	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Q	199;159;174;204	ENSP00000416277:R199Q;ENSP00000402360:R159Q;ENSP00000394952:R174Q;ENSP00000252037:R204Q	ENSP00000252037:R204Q	R	+	2	0	FKBP6	72392598	0.532000	0.26346	0.135000	0.22099	0.007000	0.05969	4.204000	0.58460	2.284000	0.76573	0.563000	0.77884	CGA		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		9	291	0	0	0	1	0	9	291					A	72754662	G	A	72754662	3	1	44	1	0	0	0	0	1	0	0	0	5937	1058	37	1	679	1	FKBP6	7	72754662	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	27948509	72754662	86384001	77	5138											
LMTK2	22853	broad.mit.edu	37	chr7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-													atgtcctcaaccaagtcattAgagagagagacacaaaactc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1090-1092)afs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	1179						7	1179	---	---	---	---	-	97820132	AG	-	97820131	7	5	44	1	0	1	0	1	0	0	0	0	8892	412	15	0	1128	0	LMTK2	7	97820131	Frame_Shift_Del	DEL	AG	TCGA-F2-A8YN-01A-11D-A377-08	25065469	97820131	61318532	78	5139											
FOXP2	93986	broad.mit.edu	37	chr7	114269964	114269964	+	Silent	SNP	G	G	A													caacaacagcagcaacaacaGcagcagcaacaacaacaaca					rs545913841	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:114269964G>A	ENST00000393494.2	+	5	780	c.501G>A	c.(499-501)caG>caA	p.Q167Q	FOXP2_ENST00000390668.3_Silent_p.Q191Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q147Q|FOXP2_ENST00000378237.3_Silent_p.Q167Q|FOXP2_ENST00000360232.4_Silent_p.Q167Q|FOXP2_ENST00000393500.3_Silent_p.Q92Q|FOXP2_ENST00000350908.4_Silent_p.Q167Q|FOXP2_ENST00000408937.3_Silent_p.Q192Q|FOXP2_ENST00000403559.4_Silent_p.Q184Q|FOXP2_ENST00000393489.3_Silent_p.Q75Q|FOXP2_ENST00000393491.3_Silent_p.Q75Q			O15409	FOXP2_HUMAN	forkhead box P2	167	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcaac	0.493													G|||	4	0.000798722	0.003	0.0	5008	,	,		14136	0.0		0.0	False		,,,				2504	0.0					ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(274-276)caG>caA		forkhead box P2							36	35	35					7																	114269964		2203	4292	6495	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269964G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.501G>A	7.37:g.114269964G>A						FOXP2_ENST00000403559.4_Silent_p.Q184Q|FOXP2_ENST00000393491.3_Silent_p.Q75Q|FOXP2_ENST00000408937.3_Silent_p.Q192Q|FOXP2_ENST00000390668.3_Silent_p.Q191Q|FOXP2_ENST00000378237.3_Silent_p.Q167Q|FOXP2_ENST00000393489.3_Silent_p.Q75Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q167Q|FOXP2_ENST00000360232.4_Silent_p.Q167Q|FOXP2_ENST00000350908.4_Silent_p.Q167Q|FOXP2_ENST00000393498.2_Silent_p.Q147Q	p.Q92Q			O15409	FOXP2_HUMAN			11	1096	+			167			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.276G>A	CCDS5760.1																																																																																				0.493	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	225	0	0	0	1	0	6	225					A	114269964	G	A	114269964	2	1	44	1	0	0	0	0	0	0	0	1	6054	962	34	2		2	FOXP2	7	114269964	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	16449833	114269964	44868699	79	5140	38	2									
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G													cagcaacaacagcagcagcaAcaacaacaacaacagcagca					rs576887296|rs398124272	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	218	0	0	0	1	0	7	218					G	114269973	A	G	114269973	2	3	44	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	9	114269973	44868690	80	5141	38	2									
WNT2	7472	broad.mit.edu	37	chr7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-													gattcatcagggctctggcaTcctttcctttcctttccttt							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	653						8	653	---	---	---	---	-	116955175	TCCTT	-	116955171	7	5	44	1	0	1	0	1	0	0	0	0	17440	1435	50	0	552	0	WNT2	7	116955171	Frame_Shift_Del	DEL	TCCTT	TCGA-F2-A8YN-01A-11D-A377-08	2685198	116955171	42183492	81	5142											
C7orf58	79974	broad.mit.edu	37	chr7	120768504	120768504	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attaactcaattatgactttCataaaggaacttggaagtct	6	6	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	457						endoplasmic reticulum (GO:0005783)											TTATGACTTTCATAAAGGAAC	0.368																																						ENST00000310396.5																			0											c.(1369-1371)ttC>ttT		cadherin-like and PC-esterase domain containing 1							80	84	83					7																	120768504		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120768504C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1371C>T	7.37:g.120768504C>T						CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	p.F457F	NM_024913.4	NP_079189.4					11	1838	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.1371C>T	CCDS34739.1																																																																																				0.368	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		87	236	0	0	0	1	0	87	236					T	120768504	C	T	120768504	2	4	44	1	0	0	0	0	0	0	0	1	2412	825	29	2		2	C7orf58	7	120768504	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	3813333	120768504	38370159	82	5143											
CNOT4	4850	broad.mit.edu	37	chr7	135047688	135047688	+	Frame_Shift_Del	DEL	G	G	-													aaatctgtgggggttttgctGgggggtctgaaggctgtctg							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:135047688delG	ENST00000451834.1	-	12	2365	c.2082delC	c.(2080-2082)cccfs	p.P694fs	CNOT4_ENST00000541284.1_Frame_Shift_Del_p.P697fs|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGTTTTGCTGGGGGGTCTGA	0.532																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(2089-2091)ccfs		CCR4-NOT transcription complex, subunit 4							187	196	193					7																	135047688		1847	4095	5942	SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047688delG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2082delC	7.37:g.135047688delG	ENSP00000388491:p.Pro694fs					CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs	p.P697fs	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN			12	2421	-			366					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Del	DEL	ENST00000451834.1	37	c.2091delC	CCDS55167.1																																																																																				0.532	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		7	1691						7	1691	---	---	---	---	-	135047688	G	-	135047688	7	5	44	1	0	1	0	1	0	0	0	0	3630	1335	47	0	54	0	CNOT4	7	135047688	Frame_Shift_Del	DEL	G	TCGA-F2-A8YN-01A-11D-A377-08	14279184	135047688	24090975	83	5144											
CHD7	55636	broad.mit.edu	37	chr8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaagcaggcctttcgcGcacacccacaaggcatctcc	8	18	1	0	rs528722099		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:61769311G>A	ENST00000423902.2	+	34	7951	c.7472G>A	c.(7471-7473)cGc>cAc	p.R2491H	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491			R -> C. {ECO:0000269|PubMed:22461308}.		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)			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)			GGCCTTTCGCGCACACCCACA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.001		0.0	False		,,,				2504	0.0					ENST00000423902.2																			0				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						c.(7471-7473)cGc>cAc		chromodomain helicase DNA binding protein 7							146	143	144					8																	61769311		1953	4152	6105	SO:0001583	missense	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.chr8:61769311G>A	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.7472G>A	8.37:g.61769311G>A	ENSP00000392028:p.Arg2491His					CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	p.R2491H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7951	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2491					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7472G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722658	0.30503	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80123	-1.34	5.07	5.07	0.68467	.	0.070956	0.64402	D	0.000010	T	0.54351	0.1853	N	0.01168	-0.975	0.35619	D	0.809264	P	0.37708	0.606	B	0.32289	0.143	T	0.64765	-0.6330	10	0.15066	T	0.55	-12.8763	18.6309	0.91359	0.0:0.0:1.0:0.0	.	2491	Q9P2D1	CHD7_HUMAN	H	2491	ENSP00000392028:R2491H	ENSP00000307304:R2491H	R	+	2	0	CHD7	61931865	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.899000	0.63245	2.630000	0.89119	0.563000	0.77884	CGC		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	603	0	0	0	1	0	5	603					A	61769311	G	A	61769311	3	1	44	1	0	0	0	0	1	0	0	0	3339	1087	38	1	7602	1	CHD7	8	61769311	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		61769311	84594711	84	5145											
ASPH	444	broad.mit.edu	37	chr8	62588724	62588726	+	Intron	DEL	TTC	TTC	-													acaccatctgcggtttcgctTtcttcttcttcttcttctag							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Intron	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	370						7	370	---	---	---	---	-	62588726	TTC	-	62588724	6	5	44	0	1	1	0	1	0	0	0	0	1054	1838	64	0		0	ASPH	8	62588724	Intron	DEL	TTC	TCGA-F2-A8YN-01A-11D-A377-08	819413	62588724	83775298	85	5146											
CSPP1	79848	broad.mit.edu	37	chr8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaaacgagggaatatgCctcctatggaacatgatggg	13	7	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	362					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGGAATATGCCTCCTATGGA	0.348																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(979-981)Cct>Tct		centrosome and spindle pole associated protein 1							122	114	116					8																	68015300		1868	4104	5972	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68015300C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.979C>T	8.37:g.68015300C>T	ENSP00000262210:p.Pro327Ser					CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	p.P327S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	1010	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	362					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.979C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886309	0.33348	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.04	3.2	0.36748	.	0.298091	0.27388	N	0.019590	T	0.42675	0.1213	L	0.45581	1.43	0.19775	N	0.999954	D;P;P;P	0.71674	0.998;0.927;0.846;0.846	D;P;P;P	0.72625	0.978;0.585;0.605;0.753	T	0.12243	-1.0555	10	0.44086	T	0.13	-3.3434	8.1653	0.31222	0.0:0.8142:0.0:0.1858	.	33;327;362;362	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	327;362;33;33	ENSP00000262210:P327S;ENSP00000415782:P33S;ENSP00000430092:P33S	ENSP00000262210:P327S	P	+	1	0	CSPP1	68177854	0.272000	0.24172	0.560000	0.28344	0.091000	0.18340	1.084000	0.30828	0.791000	0.33826	0.655000	0.94253	CCT		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	232	0	0	0	1	0	4	232					T	68015300	C	T	68015300	3	4	44	1	0	0	0	0	1	0	0	0	3973	739	26	2	1118	2	CSPP1	8	68015300	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	5426576	68015300	78348722	86	5147											
BAI1	575	broad.mit.edu	37	chr8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccccatgaagggctggCgggccacgggtgactgggcc	17	13	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2374-2376)Cgg>Tgg		brain-specific angiogenesis inhibitor 1							68	78	75					8																	143569790		2039	4190	6229	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143569790C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2374C>T	8.37:g.143569790C>T	ENSP00000430945:p.Arg792Trp					BAI1_ENST00000323289.5_Missense_Mutation_p.R792W	p.R792W			O14514	BAI1_HUMAN			14	3268	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		792						Missense_Mutation	SNP	ENST00000517894.1	37	c.2374C>T		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	.	0.070341	0.53938	U	0.000049	T	0.44767	0.1309	L	0.61218	1.895	0.50632	D	0.999889	D	0.89917	1.0	D	0.65987	0.94	T	0.28839	-1.0031	10	0.87932	D	0	.	7.1912	0.25826	0.5489:0.3668:0.0:0.0842	.	792	E9PBK0	.	W	792	ENSP00000430945:R792W;ENSP00000313046:R792W	ENSP00000313046:R792W	R	+	1	2	BAI1	143566792	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.764000	0.26532	0.107000	0.17824	0.313000	0.20887	CGG		0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	465	0	0	0	1	0	6	465					T	143569790	C	T	143569790	3	4	44	1	0	0	0	0	1	0	0	0	1299	759	27	1	2424	1	BAI1	8	143569790	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	75554490	143569790	2794232	87	5148											
CDKN2A	1029	broad.mit.edu	37	chr9	21974771	21974773	+	In_Frame_Del	DEL	GCC	GCC	-													ctacccgaccccgggccgcgGccgtggccagccagtcagcc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:21974771_21974773delGCC	ENST00000304494.5	-	1	324_326	c.54_56delGGC	c.(52-57)acggcc>acc	p.A21del	CDKN2A_ENST00000446177.1_In_Frame_Del_p.A21del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.A21del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.A21del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	21					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGGGCCGCGGCCGTGGCCAGCC	0.749		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(52-57)acc>ac		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974771_21974773delGCC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.54_56delGGC	9.37:g.21974771_21974773delGCC	ENSP00000307101:p.Ala21del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.TA18del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.TA18del|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.TA18del	p.TA18del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	324_326	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	18					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.54_56delGGC	CCDS6510.1																																																																																				0.749	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		50	104						50	104	---	---	---	---	-	21974773	GCC	-	21974771	7	5	44	1	0	1	0	1	0	0	0	0	3170	1203	42	0	627	0	CDKN2A	9	21974771	In_Frame_Del	DEL	GCC	TCGA-F2-A8YN-01A-11D-A377-08		21974771	119238660	88	5149											
PTCH1	5727	broad.mit.edu	37	chr9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccttcccagaagcagTccaaaggtgtaataatcaaa	7	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000331920.6	-	5	997	c.698A>G	c.(697-699)gAc>gGc	p.D233G	PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	233					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGAAGCAGTCCAAAGGTGT	0.433																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(499-501)gAc>gGc		patched 1							88	78	81					9																	98244279		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98244279T>C	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.698A>G	9.37:g.98244279T>C	ENSP00000332353:p.Asp233Gly					PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G	p.D167G			Q13635	PTC1_HUMAN			5	1085	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	233					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.500A>G	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172541	0.78452	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98958	-5.21;-5.13;-5.03;-5.03;-5.13;-5.03;-5.27;-3.3;-3.3;-3.3;-3.3;-3.67;-2.88	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88310	2.945	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	0.99305	1.0902	10	0.72032	D	0.01	-38.4377	16.4608	0.84044	0.0:0.0:0.0:1.0	.	167;232;233	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	233;167;82;82;167;82;232;82;82;82;82;167;82	ENSP00000332353:D233G;ENSP00000389744:D167G;ENSP00000399981:D82G;ENSP00000396135:D82G;ENSP00000410287:D167G;ENSP00000414823:D82G;ENSP00000364423:D232G;ENSP00000447797:D82G;ENSP00000447008:D82G;ENSP00000447878:D82G;ENSP00000448843:D82G;ENSP00000449745:D167G;ENSP00000450131:D82G	ENSP00000332353:D233G	D	-	2	0	PTCH1	97284100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.288000	0.76882	0.533000	0.62120	GAC		0.433	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		66	200	0	0	0	1	0	66	200					C	98244279	T	C	98244279	3	2	44	1	0	0	0	0	1	0	0	0	12777	1667	58	4	3721	4	PTCH1	9	98244279	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	76269508	98244279	42969152	89	5150											
SUSD1	64420	broad.mit.edu	37	chr9	114904607	114904607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaactcaccttggcaAtgtaattttggggactccca	8	9	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000374263.3_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408																																						ENST00000374270.3																		SUSD1/ROD1(2)	1	Substitution - coding silent(1)	p.H233H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(697-699)caT>caC		sushi domain containing 1							115	118	117					9																	114904607		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114904607A>G	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.699T>C	9.37:g.114904607A>G						SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000482851.1_5'UTR	p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			5	871	-			233			Sushi 1.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.699T>C	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-0.156	4.204	0.10480	0.3829:0.0:0.3733:0.2438	.	.	.	.	T	47	.	.	I	-	2	0	SUSD1	113944428	0.000000	0.05858	0.515000	0.27774	0.950000	0.60333	-0.799000	0.04560	0.126000	0.18424	0.528000	0.53228	ATT		0.408	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		191	503	0	0	0	1	0	191	503					G	114904607	A	G	114904607	2	3	44	1	0	0	0	0	0	0	0	1	15459	98	4	4		4	SUSD1	9	114904607	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	16660328	114904607	26308824	90	5151											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		11	571						11	571	---	---	---	---	-	81070789	CTC	-	81070787	7	5	44	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-F2-A8YN-01A-11D-A377-08		81070787	54463960	91	5152											
GPAM	57678	broad.mit.edu	37	chr10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggtagaaacagaagcgGcaaattcgtctagcaaaggg	12	7	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	223					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACAGAAGCGGCAAATTCGTC	0.383																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(667-669)Ccg>Tcg		glycerol-3-phosphate acyltransferase, mitochondrial							100	99	99					10																	113932067		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113932067G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.667C>T	10.37:g.113932067G>A	ENSP00000265276:p.Pro223Ser					GPAM_ENST00000369425.1_Missense_Mutation_p.P223S|GPAM_ENST00000423155.1_Missense_Mutation_p.P223S	p.P223S			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	9	864	-			223					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.667C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994071	0.93167	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93359	0.6725	10	0.27785	T	0.31	-20.7866	18.2424	0.89971	0.0:0.0:1.0:0.0	.	223;223	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	S	223	ENSP00000265276:P223S;ENSP00000409242:P223S;ENSP00000358433:P223S	ENSP00000265276:P223S	P	-	1	0	GPAM	113922057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.414000	0.97362	2.730000	0.93505	0.650000	0.86243	CCG		0.383	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		5	264	0	0	0	1	0	5	264					A	113932067	G	A	113932067	3	1	44	1	0	0	0	0	1	0	0	0	6617	1203	42	2	1875	2	GPAM	10	113932067	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	32861280	113932067	21602680	92	5153											
DCLRE1A	9937	broad.mit.edu	37	chr10	115608957	115608957	+	Frame_Shift_Del	DEL	T	T	-													aatttgactttctacatctcTttttttgacgctgtgacctc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:115608957delT	ENST00000361384.2	-	2	2824	c.1907delA	c.(1906-1908)aagfs	p.K636fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	636					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTACATCTCTTTTTTTGACG	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1906-1908)agfs	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							169	172	171					10																	115608957		2203	4300	6503	SO:0001589	frameshift_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115608957delT		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1907delA	10.37:g.115608957delT	ENSP00000355185:p.Lys636fs					DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs	p.K636fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2824	-			636					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	ENST00000361384.2	37	c.1907delA	CCDS7584.1																																																																																				0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		8	888						8	888	---	---	---	---	-	115608957	T	-	115608957	7	5	44	1	0	1	0	1	0	0	0	0	4305	1609	56	0	1247	0	DCLRE1A	10	115608957	Frame_Shift_Del	DEL	T	TCGA-F2-A8YN-01A-11D-A377-08	1676890	115608957	19925790	93	5154											
CHST15	51363	broad.mit.edu	37	chr10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcccctttttgaagcGcaaaaacccaccccagtttt	5	15	0	1	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85	75	79		217,217	4.8	1	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys					CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	859	-			73					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		5	473	0	0	0	1	0	5	473					A	125805512	G	A	125805512	3	1	44	1	0	0	0	0	1	0	0	0	3412	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	10196555	125805512	9729235	94	5155											
MUC5B	727897	broad.mit.edu	37	chr11	1264911	1264911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccgagtcacccccttcTccagggacgaccaccccggg	9	20	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:1264911T>C	ENST00000529681.1	+	31	6859	c.6801T>C	c.(6799-6801)tcT>tcC	p.S2267S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2270S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S2267S(1)|p.S2270S(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)		CACCCCCTTCTCCAGGGACGA	0.677																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.S2267S(1)|p.S2270S(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6808-6810)tcT>tcC		mucin 5B, oligomeric mucus/gel-forming							127	156	146					11																	1264911		2155	4230	6385	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264911T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6801T>C	11.37:g.1264911T>C						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2267S	p.S2270S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6868	+		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)	2267			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6810T>C	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	577	0	0	0	1	0	9	577					C	1264911	T	C	1264911	2	2	44	1	0	0	0	0	0	0	0	1	10020	1538	54	4		4	MUC5B	11	1264911	Silent	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08		1264911	133741605	95	5156											
OR52I1	390037	broad.mit.edu	37	chr11	4615445	4615445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggatggattccactcgGcatgagcccatgtattgctt	10	10	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:4615445G>A	ENST00000530443.2	+	1	177	c.177G>A	c.(175-177)cgG>cgA	p.R59R	OR52I1_ENST00000450052.2_Silent_p.R83R	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCACTCGGCATGAGCCCA	0.517																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(247-249)cgG>cgA		olfactory receptor, family 52, subfamily I, member 1							165	143	150					11																	4615445		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615445G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.177G>A	11.37:g.4615445G>A						OR52I1_ENST00000530443.2_Silent_p.R59R	p.R83R			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	249	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.249G>A	CCDS59223.1																																																																																				0.517	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		5	614	0	0	0	1	0	5	614					A	4615445	G	A	4615445	2	1	44	1	0	0	0	0	0	0	0	1	11162	1190	42	2		2	OR52I1	11	4615445	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3350534	4615445	130391071	96	5157											
SYT9	143425	broad.mit.edu	37	chr11	7437383	7437383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggcaatggacataacAggagcatcaggtggggcatt	13	6	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	385	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGACATAACAGGAGCATCAG	0.408																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1153-1155)acA>acG		synaptotagmin IX							112	104	106					11																	7437383		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7437383A>G	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1155A>G	11.37:g.7437383A>G							p.T385T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	4	1392	+			385			C2 2.			Silent	SNP	ENST00000318881.6	37	c.1155A>G	CCDS7778.1																																																																																				0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		66	300	0	0	0	1	0	66	300					G	7437383	A	G	7437383	2	3	44	1	0	0	0	0	0	0	0	1	15533	175	7	4		4	SYT9	11	7437383	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	2821938	7437383	127569133	97	5158											
DENND5A	23258	broad.mit.edu	37	chr11	9187392	9187392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcttaccttattgcgGcattccttcagcaggccctc	7	16	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2272-2274)tgC>tgT		DENN/MADD domain containing 5A							164	145	151					11																	9187392		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9187392G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2274C>T	11.37:g.9187392G>A						DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C	p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			11	2594	-			758					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2274C>T	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		5	483	0	0	0	1	0	5	483					A	9187392	G	A	9187392	2	1	44	1	0	0	0	0	0	0	0	1	4452	1195	42	2		2	DENND5A	11	9187392	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1750009	9187392	125819124	98	5159											
LGR4	55366	broad.mit.edu	37	chr11	27389696	27389696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacgattcgcagcagtcGcaaacagtcaggttgccctg	11	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458																																						ENST00000379214.4																			1	Substitution - coding silent(1)	p.C858C(1)	large_intestine(1)	NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2572-2574)tgC>tgT		leucine-rich repeat containing G protein-coupled receptor 4							133	127	129					11																	27389696		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389696G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2574C>T	11.37:g.27389696G>A						LGR4_ENST00000389858.4_Silent_p.C834C	p.C858C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	3017	-			858					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.2574C>T	CCDS31449.1																																																																																				0.458	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		6	827	0	0	0	1	0	6	827					A	27389696	G	A	27389696	2	1	44	1	0	0	0	0	0	0	0	1	8788	1079	38	1		1	LGR4	11	27389696	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	18202304	27389696	107616820	99	5160											
OR5L1	219437	broad.mit.edu	37	chr11	55579771	55579771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagtggccaccgtgTtctacacagtcgtgattcct	9	12	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:55579771T>A	ENST00000333973.2	+	1	918	c.829T>A	c.(829-831)Ttc>Atc	p.F277I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCACCGTGTTCTACACAGT	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(829-831)Ttc>Atc		olfactory receptor, family 5, subfamily L, member 1							77	70	73					11																	55579771		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579771T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.829T>A	11.37:g.55579771T>A	ENSP00000335529:p.Phe277Ile						p.F277I	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	918	+		all_epithelial(135;0.208)	277					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.829T>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	14.42	2.530406	0.45073	.	.	ENSG00000186117	ENST00000333973	T	0.00188	8.59	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00384	0.0012	M	0.69185	2.1	0.25320	N	0.989127	D	0.76494	0.999	D	0.75020	0.985	T	0.45614	-0.9249	10	0.87932	D	0	-74.2804	3.6719	0.08277	0.1926:0.1051:0.0:0.7023	.	277	Q8NGL2	OR5L1_HUMAN	I	277	ENSP00000335529:F277I	ENSP00000335529:F277I	F	+	1	0	OR5L1	55336347	0.000000	0.05858	0.486000	0.27416	0.349000	0.29174	0.487000	0.22356	1.529000	0.49120	0.352000	0.21897	TTC		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		4	308	0	0	0	1	0	4	308					A	55579771	T	A	55579771	3	1	44	1	0	0	0	0	1	0	0	0	11212	1725	60	5	831	5	OR5L1	11	55579771	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	28190075	55579771	79426745	100	5161											
SLC22A10	387775	broad.mit.edu	37	chr11	63057849	63057849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcctcagtgaagatgCcctcttgagaatctctatcc	8	11	3	3	rs537450056		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:63057849C>T	ENST00000332793.6	+	1	214	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	71						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			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)	AGTGAAGATGCCCTCTTGAGA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18921	0.0		0.0	False		,,,				2504	0.001					ENST00000332793.6																			0				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						c.(211-213)gCc>gTc		solute carrier family 22, member 10							108	115	113					11																	63057849		2201	4298	6499	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63057849C>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.212C>T	11.37:g.63057849C>T	ENSP00000327569:p.Ala71Val					SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	p.A71V	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN			1	214	+			71					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.212C>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	5.138	0.211114	0.09757	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66815	2.48;-0.23	2.89	-0.723	0.11181	.	1.274800	0.05599	N	0.575951	T	0.53465	0.1798	L	0.41710	1.295	0.09310	N	1	B;B	0.19706	0.009;0.038	B;B	0.19946	0.012;0.027	T	0.29701	-1.0003	10	0.30078	T	0.28	.	4.2839	0.10846	0.4005:0.4704:0.0:0.1291	.	19;71	E9PJB1;Q63ZE4	.;S22AA_HUMAN	V	71;19	ENSP00000327569:A71V;ENSP00000433908:A19V	ENSP00000327569:A71V	A	+	2	0	SLC22A10	62814425	0.005000	0.15991	0.185000	0.23176	0.176000	0.22953	-0.169000	0.09911	-0.259000	0.09432	0.579000	0.79373	GCC		0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		5	428	0	0	0	1	0	5	428					T	63057849	C	T	63057849	3	4	44	1	0	0	0	0	1	0	0	0	14491	739	26	2	214	2	SLC22A10	11	63057849	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7478078	63057849	71948667	101	5162											
GPR137	56834	broad.mit.edu	37	chr11	64054047	64054047	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgggctggtgcctgcGctgccacctgctgtgaccct	14	16	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:64054047G>C	ENST00000313074.3	+	1	156	c.51G>C	c.(49-51)gcG>gcC	p.A17A	GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000438980.2_Silent_p.A17A|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.A17A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.A75A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	17						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGTGCCTGCGCTGCCACCTG	0.632																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(49-51)gcG>gcC		G protein-coupled receptor 137							85	76	79					11																	64054047		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054047G>C	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.51G>C	11.37:g.64054047G>C						GPR137_ENST00000411458.1_Silent_p.A75A|GPR137_ENST00000377702.4_Silent_p.A17A|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000313074.3_Silent_p.A17A	p.A17A	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	518	+			17					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.51G>C	CCDS8066.1																																																																																				0.632	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		5	380	0	0	0	1	0	5	380					C	64054047	G	C	64054047	2	2	44	1	0	0	0	0	0	0	0	1	6674	1074	38	5		5	GPR137	11	64054047	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	996198	64054047	70952469	102	5163											
FAT3	120114	broad.mit.edu	37	chr11	92577374	92577374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggaggcctggacagcgGcaagtatgtcctgaatgtgt	15	9	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:92577374G>A	ENST00000298047.6	+	18	10858	c.10841G>A	c.(10840-10842)gGc>gAc	p.G3614D	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D|FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3614	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGCGGCAAGTATGTC	0.498										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10840-10842)gGc>gAc		FAT atypical cadherin 3							178	186	183					11																	92577374		2135	4258	6393	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577374G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10841G>A	11.37:g.92577374G>A	ENSP00000298047:p.Gly3614Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D|FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D	p.G3614D			Q8TDW7	FAT3_HUMAN			18	10858	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3614			Cadherin 33.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10841G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.814470	0.90790	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.08269	-1.0730	9	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3614;3614	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	3614;3614;3464	ENSP00000298047:G3614D;ENSP00000387040:G3614D;ENSP00000432586:G3464D	ENSP00000298047:G3614D	G	+	2	0	FAT3	92217022	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.787000	0.99055	2.756000	0.94617	0.561000	0.74099	GGC		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	989	0	0	0	1	0	6	989					A	92577374	G	A	92577374	3	1	44	1	0	0	0	0	1	0	0	0	5716	1203	42	2	10911	2	FAT3	11	92577374	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	28523327	92577374	42429142	103	5164											
IFT46	56912	broad.mit.edu	37	chr11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-													ccagaggggctccatgctctTcatcatcatcatcagaatca							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000530872.1_In_Frame_Del_p.D104del|IFT46_ENST00000264020.2_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del|IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		9	1090						9	1090	---	---	---	---	-	118427647	TCA	-	118427645	7	5	44	1	0	1	0	1	0	0	0	0	7590	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-F2-A8YN-01A-11D-A377-08	25850271	118427645	16578871	104	5165											
TMEM45B	120224	broad.mit.edu	37	chr11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttcttcctgatcattgGgctgtgttggtcagtgaagt	13	6	3	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000524567.1	+	2	334	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E			Q96B21	TM45B_HUMAN	transmembrane protein 45B	18						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGATCATTGGGCTGTGTTGG	0.507																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(52-54)gGg>gAg		transmembrane protein 45B							124	109	115					11																	129722430		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722430G>A	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.53G>A	11.37:g.129722430G>A	ENSP00000436293:p.Gly18Glu					TMEM45B_ENST00000524567.1_Missense_Mutation_p.G18E	p.G18E	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	141	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	18					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.53G>A	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632180	0.87660	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.61980	0.06;0.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86602	0.1867	10	0.87932	D	0	-16.7256	18.2812	0.90098	0.0:0.0:1.0:0.0	.	18	Q96B21	TM45B_HUMAN	E	18	ENSP00000281441:G18E;ENSP00000436293:G18E	ENSP00000281441:G18E	G	+	2	0	TMEM45B	129227640	1.000000	0.71417	0.823000	0.32752	0.573000	0.36030	9.317000	0.96327	2.653000	0.90120	0.655000	0.94253	GGG		0.507	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		146	358	0	0	0	1	0	146	358					A	129722430	G	A	129722430	3	1	44	1	0	0	0	0	1	0	0	0	16222	1232	43	2	55	2	TMEM45B	11	129722430	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11294785	129722430	5284086	105	5166											
TAS2R8	50836	broad.mit.edu	37	chr12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaagcatcccagcaggatCcagtgcaccaccatatcaat	7	14	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(394-396)tgG>tgA		taste receptor, type 2, member 8							96	88	91					12																	10959184		2203	4299	6502	SO:0001587	stop_gained	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959184C>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.396G>A	12.37:g.10959184C>T	ENSP00000240615:p.Trp132*						p.W132*	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	708	-			132					Q4KN29|Q645Y2	Nonsense_Mutation	SNP	ENST00000240615.2	37	c.396G>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	.	0.924044	0.08834	U	0.886839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9053	0.13795	0.1496:0.6025:0.147:0.1009	.	.	.	.	X	132	.	ENSP00000240615:W132X	W	-	3	0	TAS2R8	10850451	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.151000	0.10175	0.280000	0.22209	0.557000	0.71058	TGG		0.413	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			12	227	0	0	0	1	0	12	227					T	10959184	C	T	10959184	4	4	44	1	0	0	0	0	0	1	0	0	15639	856	30	2	536	2	TAS2R8	12	10959184	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		10959184	122892711	106	5167											
GRIN2B	2904	broad.mit.edu	37	chr12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaactggtccaggtagAagtcccgtagcccttccttg	11	12	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000609686.1	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1132					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCAGGTAGAAGTCCCGTAG	0.597																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3394-3396)tTc>tAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94	86	89					12																	13716777		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716777A>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3395T>A	12.37:g.13716777A>T	ENSP00000477455:p.Phe1132Tyr						p.F1132Y	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3604	-			1132					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3395T>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671252	0.67814	.	.	ENSG00000150086	ENST00000279593	T	0.20463	2.07	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.23619	-1.0183	10	0.35671	T	0.21	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	1132	Q13224	NMDE2_HUMAN	Y	1132	ENSP00000279593:F1132Y	ENSP00000279593:F1132Y	F	-	2	0	GRIN2B	13608044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.869000	0.92326	2.099000	0.63709	0.533000	0.62120	TTC		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	185	0	0	0	1	0	6	185					T	13716777	A	T	13716777	3	4	44	1	0	0	0	0	1	0	0	0	6810	246	9	5	1063	5	GRIN2B	12	13716777	Missense_Mutation	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	2757593	13716777	120135118	107	5168											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		72	131	0	0	0	1	0	72	131					G	25398285	C	G	25398285	3	3	44	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11681508	25398285	108453610	108	5169											
ITPR2	3709	broad.mit.edu	37	chr12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-													gcatatctttgatcccccagAtcttcaagtctcagcatcga							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					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)		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)	GATCCCCCAGATCTTCAAGTCT	0.46																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(1618-1620)gfs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	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.chr12:26816711_26816712delAT	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.1619_1620delAT	12.37:g.26816711_26816712delAT	ENSP00000370744:p.Asp540fs						p.D540fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			15	2035_2036	-	Colorectal(261;0.0847)		540					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.1619_1620delAT	CCDS41764.1																																																																																				0.46	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		450	764						450	764	---	---	---	---	-	26816712	AT	-	26816711	7	5	44	1	0	1	0	1	0	0	0	0	7951	330	12	0	6657	0	ITPR2	12	26816711	Frame_Shift_Del	DEL	AT	TCGA-F2-A8YN-01A-11D-A377-08	1418426	26816711	107035184	109	5170											
TMTC3	160418	broad.mit.edu	37	chr12	88589292	88589295	+	Frame_Shift_Del	DEL	AACA	AACA	-													ataaaagtcagtctaaatccAacaaacaattaggaaaaaat							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:88589292_88589295delAACA	ENST00000266712.6	+	14	2831_2834	c.2611_2614delAACA	c.(2611-2616)aacaaafs	p.NK871fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	872					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)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GTCTAAATCCAACAAACAATTAGG	0.319																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(2611-2616)aafs		transmembrane and tetratricopeptide repeat containing 3																																				SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88589292_88589295delAACA		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.2611_2614delAACA	12.37:g.88589296_88589299delAACA	ENSP00000266712:p.Asn871fs						p.NK871fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			14	2831_2834	+			872					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.2611_2614delAACA	CCDS9032.1																																																																																				0.319	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		11	268						11	268	---	---	---	---	-	88589295	AACA	-	88589292	7	5	44	1	0	1	0	1	0	0	0	0	16314	130	5	0	2661	0	TMTC3	12	88589292	Frame_Shift_Del	DEL	AACA	TCGA-F2-A8YN-01A-11D-A377-08	61772581	88589292	45262603	110	5171											
STAB2	55576	broad.mit.edu	37	chr12	103988268	103988268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcggtgttgtcctggccGctggggcccagactgtatag	14	12	0	1	rs151009841	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:103988268G>A	ENST00000388887.2	+	3	515	c.311G>A	c.(310-312)cGc>cAc	p.R104H	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCCTGGCCGCTGGGGCCCA	0.493																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(310-312)cGc>cAc		stabilin 2		G	HIS/ARG	0,4406		0,0,2203	131	118	122		311	3.3	1	12	dbSNP_134	122	10,8590	7.7+/-29.5	0,10,4290	yes	missense	STAB2	NM_017564.9	29	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	104/2552	103988268	10,12996	2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103988268G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.311G>A	12.37:g.103988268G>A	ENSP00000373539:p.Arg104His						p.R104H	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			3	515	+			104						Missense_Mutation	SNP	ENST00000388887.2	37	c.311G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	7.358	0.624164	0.14193	0.0	0.001163	ENSG00000136011	ENST00000388887	T	0.33865	1.39	5.78	3.29	0.37713	.	0.371469	0.28809	N	0.014065	T	0.12902	0.0313	N	0.02103	-0.685	0.20403	N	0.999908	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.31617	T	0.26	.	6.7802	0.23642	0.7892:0.0:0.0766:0.1342	.	104	Q8WWQ8	STAB2_HUMAN	H	104	ENSP00000373539:R104H	ENSP00000373539:R104H	R	+	2	0	STAB2	102512398	0.989000	0.36119	0.996000	0.52242	0.629000	0.37895	2.169000	0.42434	1.109000	0.41680	-0.383000	0.06682	CGC		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	386	0	0	0	1	0	5	386					A	103988268	G	A	103988268	3	1	44	1	0	0	0	0	1	0	0	0	15290	1087	38	1	321	1	STAB2	12	103988268	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	15398976	103988268	29863627	111	5172											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaggaagcttgaacacagGggtcccatctttctctgcag	10	10	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(220-222)Cct>Tct		aldehyde dehydrogenase 1 family, member L2							128	110	116					12																	105464556		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105464556G>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.220C>T	12.37:g.105464556G>A	ENSP00000258494:p.Pro74Ser					ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			3	360	-			74			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.220C>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066278	0.93898	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80738	-1.41;-1.41	5.48	5.48	0.80851	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.89287	3.02	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.92391	0.5921	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	74	Q3SY69	AL1L2_HUMAN	S	74	ENSP00000258494:P74S;ENSP00000389608:P74S	ENSP00000258494:P74S	P	-	1	0	ALDH1L2	103988686	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.782000	0.85680	2.749000	0.94314	0.655000	0.94253	CCT		0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		116	201	0	0	0	1	0	116	201					A	105464556	G	A	105464556	3	1	44	1	0	0	0	0	1	0	0	0	495	1232	43	2	2635	2	ALDH1L2	12	105464556	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1476288	105464556	28387339	112	5173											
ATP12A	479	broad.mit.edu	37	chr13	25255720	25255720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccccagaaatttactcCgtggagctcagcggaactaa	8	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000381946.3	+	2	197	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000218548.6_Silent_p.S10S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	10					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAATTTACTCCGTGGAGCTCA	0.522																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(28-30)tcC>tcT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						60	63	62					13																	25255720		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25255720C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.30C>T	13.37:g.25255720C>T						ATP12A_ENST00000381946.3_Silent_p.S10S	p.S10S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	2	363	+		Lung SC(185;0.0225)|Breast(139;0.077)	10					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.30C>T	CCDS31948.1																																																																																				0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		91	244	0	0	0	1	0	91	244					T	25255720	C	T	25255720	2	4	44	1	0	0	0	0	0	0	0	1	1123	639	23	1		1	ATP12A	13	25255720	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		25255720	89914158	113	5174											
TRPC4	7223	broad.mit.edu	37	chr13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgaagctaatcctcgagattCcagttgaatatttctctcaa	6	9	2	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	887	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCGAGATTCCAGTTGAATA	0.458																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2659-2661)Gaa>Caa		transient receptor potential cation channel, subfamily C, member 4							97	91	93					13																	38211315		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211315C>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2659G>C	13.37:g.38211315C>G	ENSP00000369027:p.Glu887Gln					TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000426868.2_3'UTR	p.E887Q			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3516	-			887			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2659G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764029	0.69878	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.75938	-0.47;-0.47;-0.29;-0.29;-0.65;-0.63;-0.98;-0.65	5.3	5.3	0.74995	.	2.243490	0.01788	N	0.032140	T	0.81654	0.4868	N	0.19112	0.55	0.80722	D	1	B;D;P;B;D;B	0.69078	0.435;0.989;0.908;0.264;0.997;0.013	B;D;D;B;D;B	0.78314	0.093;0.979;0.922;0.082;0.991;0.005	T	0.67526	-0.5648	10	0.59425	D	0.04	-18.9881	14.8849	0.70560	0.0:0.8568:0.1431:0.0	.	746;738;892;714;803;887	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	887;892;714;714;746;803;738;746	ENSP00000369027:E887Q;ENSP00000369003:E892Q;ENSP00000342580:E714Q;ENSP00000369001:E714Q;ENSP00000348025:E746Q;ENSP00000351264:E803Q;ENSP00000368995:E738Q;ENSP00000414316:E746Q	ENSP00000342580:E714Q	E	-	1	0	TRPC4	37109315	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	4.328000	0.59253	2.618000	0.88619	0.563000	0.77884	GAA		0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		96	277	0	0	0	1	0	96	277					G	38211315	C	G	38211315	3	3	44	1	0	0	0	0	1	0	0	0	16633	864	30	5	278	5	TRPC4	13	38211315	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	12955595	38211315	76958563	114	5175											
FARP1	10160	broad.mit.edu	37	chr13	98896791	98896791	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaccggctcctcctggaCgggttgggtactgagatgct	14	12	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:98896791C>T	ENST00000319562.6	+	2	436				FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Missense_Mutation_p.T73M|FARP1_ENST00000595437.1_Intron	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488																																						ENST00000376581.5																			1	Substitution - Missense(1)	p.T73M(1)	lung(1)	breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(217-219)aCg>aTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							77	70	72					13																	98896791		2203	4300	6503	SO:0001627	intron_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:98896791C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.171+31124C>T	13.37:g.98896791C>T						FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	p.T73M	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		3	254	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0			FERM.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.218C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.720448	0.00700	.	.	ENSG00000152767	ENST00000376581	T	0.52295	0.67	2.86	-5.72	0.02406	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	9	0.87932	D	0	.	2.3534	0.04290	0.1111:0.3886:0.1774:0.3229	.	73	Q5JVI9	.	M	73	ENSP00000365765:T73M	ENSP00000365765:T73M	T	+	2	0	FARP1	97694792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.901000	0.00050	-4.564000	0.00042	-3.146000	0.00059	ACG		0.488	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		4	251	0	0	0	1	0	4	251					T	98896791	C	T	98896791	1	4	44	0	1	0	0	0	0	0	0	0	5701	536	19	1		1	FARP1	13	98896791	Intron	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	60685476	98896791	16273087	115	5176											
NALCN	259232	broad.mit.edu	37	chr13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgcgatcttcagtcGgctcttcaggtcttcccatc	10	13	5	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1181					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTCAGTCGGCTCTTCAGG	0.512																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3541-3543)Cga>Tga		sodium leak channel, non-selective							76	74	74					13																	101736104		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101736104G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3541C>T	13.37:g.101736104G>A	ENSP00000251127:p.Arg1181*						p.R1181*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			31	3622	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1181					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.3541C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	41	9.100694	0.99066	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.2	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6363	0.56685	0.0:0.0:0.5839:0.4161	.	.	.	.	X	1181	.	ENSP00000251127:R1181X	R	-	1	2	NALCN	100534105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.610000	0.36869	0.389000	0.25086	0.650000	0.86243	CGA		0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		54	158	0	0	0	1	0	54	158					A	101736104	G	A	101736104	4	1	44	1	0	0	0	0	0	1	0	0	10189	1124	39	1	1731	1	NALCN	13	101736104	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2839313	101736104	13433774	116	5177											
OR11H12	440153	broad.mit.edu	37	chr14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgttcctgggaaatttctCctttttagagatatggtatg	9	6	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S82F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAATTTCTCCTTTTTAGAG	0.423																																						ENST00000550708.1																			1	Substitution - Missense(1)	p.S82F(1)	large_intestine(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(244-246)tCc>tAc		olfactory receptor, family 11, subfamily H, member 12							41	50	47					14																	19377838		1971	4084	6055	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377838C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.245C>A	14.37:g.19377838C>A	ENSP00000449002:p.Ser82Tyr						p.S82Y	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	317	+	all_cancers(95;0.00108)		82						Missense_Mutation	SNP	ENST00000550708.1	37	c.245C>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.243398	0.22796	.	.	ENSG00000257115	ENST00000550708	T	0.12361	2.69	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.171384	0.27447	N	0.019339	T	0.48572	0.1507	H	0.98936	4.375	0.24804	N	0.992688	D	0.89917	1.0	D	0.83275	0.996	T	0.63541	-0.6614	9	0.87932	D	0	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	82	B2RN74	O11HC_HUMAN	Y	82	ENSP00000449002:S82Y	ENSP00000449002:S82Y	S	+	2	0	CR383656.1	18447838	0.178000	0.23122	0.997000	0.53966	0.280000	0.26924	1.272000	0.33109	0.619000	0.30197	0.064000	0.15345	TCC		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		179	532	1	0	4.29369e-96	1	4.62249e-96	179	532					A	19377838	C	A	19377838	3	1	44	1	0	0	0	0	1	0	0	0	10969	855	30	3	247	3	OR11H12	14	19377838	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		19377838	87971702	117	5178											
SLC22A17	51310	broad.mit.edu	37	chr14	23816760	23816760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccagggaagcaatgccGgtaagggtcatggagagaag	17	6	1	1	rs369056418		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000206544.8	-	7	1461	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	375					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAATGCCGGTAAGGGTCA	0.622																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1123-1125)acC>acT		solute carrier family 22, member 17		G	,	0,4406		0,0,2203	53	54	54		1125,1125	-5.4	0.9	14		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC22A17	NM_016609.3,NM_020372.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	375/521,375/539	23816760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816760G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1125C>T	14.37:g.23816760G>A						SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Silent_p.T264T|SLC22A17_ENST00000397267.1_Silent_p.T375T	p.T375T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	8	1628	-	all_cancers(95;7.12e-06)		375					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.1125C>T	CCDS9593.1																																																																																				0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		4	179	0	0	0	1	0	4	179					A	23816760	G	A	23816760	2	1	44	1	0	0	0	0	0	0	0	1	14498	1103	39	1		1	SLC22A17	14	23816760	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	4438922	23816760	83532780	118	5179											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	115	0	0	0	1	0	4	115					T	24424420	C	T	24424420	5	4	44	1	0	0	0	0	0	0	1	0	4508	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	607660	24424420	82925120	119	5180											
DHRS4L1	728635	broad.mit.edu	37	chr14	24517390	24517390	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacattaatgggaaggcccTagccctaatgataaaggcag	12	8	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24517390T>C	ENST00000558293.1	+	0	463					NR_102693.1																						GGGAAGGCCCTAGCCCTAATG	0.507																																						ENST00000558293.1																			0													dehydrogenase/reductase (SDR family) member 4 like 1							114	113	114					14																	24517390		2203	4300	6503			728635							g.chr14:24517390T>C																													14.37:g.24517390T>C								NR_102693.1						0	463	+									RNA	SNP	ENST00000558293.1	37			.	.	.	.	.	.	.	.	.	.	C	11.38	1.622524	0.28889	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.2	2.33	0.28932	NAD(P)-binding domain (1);	.	.	.	.	T	0.13670	0.0331	N	0.01081	-1.03	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	7	0.13853	T	0.58	.	8.272	0.31849	0.0:0.7224:0.0:0.2776	.	148	P0CG22	DR4L1_HUMAN	P	148	.	ENSP00000380255:L148P	L	+	2	0	AL136295.1	23587230	0.972000	0.33761	0.001000	0.08648	0.338000	0.28826	3.117000	0.50407	0.162000	0.19483	-0.534000	0.04291	CTA		0.507	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			73	162	0	0	0	1	0	73	162					C	24517390	T	C	24517390	1	2	44	0	1	0	0	0	0	0	0	0	4509	1522	53	4		4	DHRS4L1	14	24517390	RNA	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	92970	24517390	82832150	120	5181											
NYNRIN	57523	broad.mit.edu	37	chr14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgggagatgagcagcGcaaacattgaagggctcaag	16	6	1	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5335-5337)Gca>Aca		NYN domain and retroviral integrase containing							51	56	54					14																	24886290		2071	4207	6278	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886290G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5335G>A	14.37:g.24886290G>A	ENSP00000371994:p.Ala1779Thr						p.A1779T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5653	+			1779					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5335G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.22842	N	0.998664	D	0.89917	1.0	D	0.76575	0.988	T	0.11036	-1.0604	9	0.46703	T	0.11	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	1779	Q9P2P1	NYNRI_HUMAN	T	1779	ENSP00000371994:A1779T	ENSP00000371994:A1779T	A	+	1	0	NYNRIN	23956130	0.890000	0.30428	0.748000	0.31131	0.644000	0.38419	1.278000	0.33179	2.640000	0.89533	0.655000	0.94253	GCA		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	335	0	0	0	1	0	5	335					A	24886290	G	A	24886290	3	1	44	1	0	0	0	0	1	0	0	0	10838	1087	38	1	5365	1	NYNRIN	14	24886290	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	368900	24886290	82463250	121	5182											
CFL2	1073	broad.mit.edu	37	chr14	35182567	35182567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacttcacaaaagatgtGtaggggtcctctacagtatc	9	9	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000341223.3	-	2	355	c.204C>T	c.(202-204)taC>taT	p.Y68Y	CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	68	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAAGATGTGTAGGGGTCCT	0.398																																						ENST00000341223.3																			0				breast(3)|endometrium(2)|lung(3)	8						c.(202-204)taC>taT		cofilin 2 (muscle)							134	126	129					14																	35182567		2203	4300	6503	SO:0001819	synonymous_variant	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182567G>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"nemaline myopathy type 7"	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.204C>T	14.37:g.35182567G>A						CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	355	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		68			ADF-H.		G3V5P4	Silent	SNP	ENST00000341223.3	37	c.204C>T	CCDS9650.1																																																																																				0.398	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		8	621	0	0	0	1	0	8	621					A	35182567	G	A	35182567	2	1	44	1	0	0	0	0	0	0	0	1	3300	1372	48	2		2	CFL2	14	35182567	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	10296277	35182567	72166973	122	5183											
SIP1	8487	broad.mit.edu	37	chr14	39597482	39597482	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccccctctttttttttttAggcaacagtaactagtgtct	5	11	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											TTTTTTTTTTAGGCAACAGTA	0.308																																						ENST00000308317.6																			0											c.e7-1		gem (nuclear organelle) associated protein 2							66	71	69					14																	39597482		2203	4300	6503	SO:0001630	splice_region_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597482A>T	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"survival of motor neuron protein interacting protein 1"	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.565-1A>T	14.37:g.39597482A>T						GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site		NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			7	647	+								B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Splice_Site	SNP	ENST00000308317.6	37		CCDS9669.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100661	0.76983	.	.	ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379;ENST00000527381	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3281	0.66534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEMIN2	38667233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.625000	0.74248	2.330000	0.79161	0.528000	0.53228	.		0.308	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		Intron	5	358	0	0	0	1	0	5	358					T	39597482	A	T	39597482	5	4	44	1	0	0	0	0	0	0	1	0	14377	434	15	5	589	5	SIP1	14	39597482	Splice_Site	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	4414915	39597482	67752058	123	5184											
ZFP36L1	677	broad.mit.edu	37	chr14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggactcggacatgggccGgaagaggaaggtggtcgggg	22	6	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000439696.2	-	2	1139	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	280					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACATGGGCCGGAAGAGGAAG	0.632											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(838-840)Cgg>Tgg		ZFP36 ring finger protein-like 1							53	64	60					14																	69256429		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256429G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.838C>T	14.37:g.69256429G>A	ENSP00000388402:p.Arg280Trp		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1139	-			280					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.838C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065008	0.55432	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.36157	1.27;1.27	4.38	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.38045	-0.9679	10	0.39692	T	0.17	-6.8806	5.803	0.18424	0.1757:0.0:0.6325:0.1918	.	280	Q07352	TISB_HUMAN	W	280;280;263	ENSP00000388402:R280W;ENSP00000337386:R280W	ENSP00000337386:R280W	R	-	1	2	ZFP36L1	68326182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	0.487000	0.27698	0.591000	0.81541	CGG		0.632	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			6	571	0	0	0	1	0	6	571					A	69256429	G	A	69256429	3	1	44	1	0	0	0	0	1	0	0	0	17699	1115	39	1	182	1	ZFP36L1	14	69256429	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	29658947	69256429	38093111	124	5185											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		8	101						8	101	---	---	---	---	-	74205928	CTG	-	74205926	7	5	44	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-F2-A8YN-01A-11D-A377-08	4949497	74205926	33143614	125	5186											
KIAA1409	57578	broad.mit.edu	37	chr14	93954015	93954015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttttggttgcagtgggctCctcaaggagagaaggtgtac	14	7	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:93954015C>T	ENST00000393151.2	+	5	626	c.626C>T	c.(625-627)tCc>tTc	p.S209F	UNC79_ENST00000256339.4_Missense_Mutation_p.S32F|UNC79_ENST00000553484.1_Missense_Mutation_p.S209F|UNC79_ENST00000555664.1_Missense_Mutation_p.S209F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGTGGGCTCCTCAAGGAGA	0.403																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(625-627)tCc>tTc		unc-79 homolog (C. elegans)							132	121	124					14																	93954015		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93954015C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.626C>T	14.37:g.93954015C>T	ENSP00000376858:p.Ser209Phe					UNC79_ENST00000393151.2_Missense_Mutation_p.S209F|UNC79_ENST00000555664.1_Missense_Mutation_p.S209F|UNC79_ENST00000256339.4_Missense_Mutation_p.S32F	p.S209F			Q9P2D8	UNC79_HUMAN			5	780	+			209					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	C	19.75	3.885344	0.72410	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.49090	0.919;0.919	P;P	0.45712	0.491;0.491	T	0.01159	-1.1433	10	0.59425	D	0.04	-9.7376	19.2622	0.93973	0.0:1.0:0.0:0.0	.	209;209	C9JQL1;Q9P2D8	.;UNC79_HUMAN	F	32;209;209;209;209	ENSP00000256339:S32F;ENSP00000450868:S209F;ENSP00000451360:S209F;ENSP00000376858:S209F	ENSP00000256339:S32F	S	+	2	0	KIAA1409	93023768	1.000000	0.71417	0.981000	0.43875	0.592000	0.36648	7.541000	0.82084	2.564000	0.86499	0.591000	0.81541	TCC		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		17	383	0	0	0	1	0	17	383					T	93954015	C	T	93954015	3	4	44	1	0	0	0	0	1	0	0	0	8260	855	30	2	101	2	KIAA1409	14	93954015	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	19748089	93954015	13395525	126	5187											
NIPA2	81614	broad.mit.edu	37	chr15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T													ctggcaagtcgaaggaggccINScttttttttcaaaatgaaac					rs145147241|rs7170838	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagggcfs	p.G34fs	NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	34						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CGAAGGAGGCCCTTTTTTTTCA	0.446																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-102)aagcctfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021237_23021238insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99_100insA	15.37:g.23021237_23021238insT	ENSP00000337618:p.Gly34fs					NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.P34fs	p.P34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	711_712	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	34					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.99_100insA	CCDS10010.1																																																																																				0.446	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		8	487						8	487	---	---	---	---	T	23021238	-	T	23021237	7	5	44	1	0	1	1	0	0	0	0	0	10465	623	22	0	1002	0	NIPA2	15	23021237	Frame_Shift_Ins	INS	-	TCGA-F2-A8YN-01A-11D-A377-08		23021237	79510155	127	5188											
ATP10A	57194	broad.mit.edu	37	chr15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatagtttcagggactccgtCctgcaggcggtcttcaatcc	10	12	3	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	869					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGACTCCGTCCTGCAGGCGG	0.527																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2605-2607)Gac>Cac		ATPase, class V, type 10A							94	92	93					15																	25947218		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25947218C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2605G>C	15.37:g.25947218C>G	ENSP00000349325:p.Asp869His						p.D869H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	13	2716	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	869					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2605G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783540	0.90282	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	5.31	5.31	0.75309	HAD-like domain (2);	0.273464	0.45867	D	0.000325	D	0.83422	0.5251	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	D	0.86242	0.1644	10	0.87932	D	0	-8.5174	18.9799	0.92751	0.0:1.0:0.0:0.0	.	869	O60312	AT10A_HUMAN	H	869	ENSP00000349325:D869H	ENSP00000349325:D869H	D	-	1	0	ATP10A	23498311	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	7.561000	0.82288	2.485000	0.83878	0.561000	0.74099	GAC		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		15	362	0	0	0	1	0	15	362					G	25947218	C	G	25947218	3	3	44	1	0	0	0	0	1	0	0	0	1117	855	30	5	1930	5	ATP10A	15	25947218	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	2925981	25947218	76584174	128	5189											
ONECUT1	3175	broad.mit.edu	37	chr15	53081647	53081647	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagcgtgaagctaccgctCacgttgcccgccaggcgctg	13	14	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	145					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCTACCGCTCACGTTGCCCG	0.642																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(433-435)gtG>gtA		one cut homeobox 1							49	54	52					15																	53081647		2194	4293	6487	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081647C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.435G>A	15.37:g.53081647C>T						ONECUT1_ENST00000561401.2_Intron	p.V145V	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	562	-			145					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.435G>A	CCDS10150.1																																																																																				0.642	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			30	169	0	0	0	1	0	30	169					T	53081647	C	T	53081647	2	4	44	1	0	0	0	0	0	0	0	1	10910	813	29	2		2	ONECUT1	15	53081647	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	27134429	53081647	49449745	129	5190											
HERC1	8925	broad.mit.edu	37	chr15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgatctgacagatttcCgtagccagtacacacagaag	10	9	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	922					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G922*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAGATTTCCGTAGCCAGTA	0.458																																						ENST00000443617.2																			2	Substitution - Nonsense(2)	p.G922*(2)	lung(2)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2764-2766)Gga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							117	113	114					15																	64025227		1949	4145	6094	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64025227C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2764G>A	15.37:g.64025227C>T	ENSP00000390158:p.Gly922Arg						p.G922R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			14	2851	-			922					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2764G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217516	0.58560	.	.	ENSG00000103657	ENST00000443617	T	0.22743	1.94	5.67	5.67	0.87782	.	0.312879	0.26400	U	0.024596	T	0.09291	0.0229	N	0.08118	0	0.40185	D	0.97733	P	0.43633	0.813	B	0.27608	0.081	T	0.32508	-0.9904	10	0.16420	T	0.52	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	922	Q15751	HERC1_HUMAN	R	922	ENSP00000390158:G922R	ENSP00000390158:G922R	G	-	1	0	HERC1	61812280	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	2.592000	0.46171	2.658000	0.90341	0.655000	0.94253	GGA		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		93	179	0	0	0	1	0	93	179					T	64025227	C	T	64025227	3	4	44	1	0	0	0	0	1	0	0	0	7087	661	23	1	12081	1	HERC1	15	64025227	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	10943580	64025227	38506165	130	5191											
LINS1	55180	broad.mit.edu	37	chr15	101115212	101115212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttctgtgaacatgaaTctttaaagatttcttttatt	5	5	3	3	rs572636883		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:101115212T>C	ENST00000314742.8	-	4	833	c.611A>G	c.(610-612)gAt>gGt	p.D204G	LINS_ENST00000560133.1_Missense_Mutation_p.D85G|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.D204G	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	204										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAACATGAATCTTTAAAGAT	0.338																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(610-612)gAt>gGt		lines homolog (Drosophila)							85	82	83					15																	101115212		2203	4298	6501	SO:0001583	missense	55180							g.chr15:101115212T>C	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.611A>G	15.37:g.101115212T>C	ENSP00000318423:p.Asp204Gly					LINS_ENST00000560133.1_Missense_Mutation_p.D85G|LINS_ENST00000561308.1_Missense_Mutation_p.D204G|LINS_ENST00000559149.1_5'UTR	p.D204G	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			4	833	-			204					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.611A>G	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101550	0.56183	.	.	ENSG00000140471	ENST00000314742	T	0.39056	1.1	5.89	4.72	0.59763	.	0.106857	0.64402	D	0.000005	T	0.56217	0.1970	L	0.55834	1.745	0.34460	D	0.701637	D;D;D	0.89917	0.996;0.995;1.0	D;P;D	0.70716	0.921;0.814;0.97	T	0.64803	-0.6321	10	0.34782	T	0.22	-18.4759	12.9119	0.58184	0.0:0.0:0.1443:0.8557	.	85;204;204	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	G	204	ENSP00000318423:D204G	ENSP00000318423:D204G	D	-	2	0	LINS	98932735	0.995000	0.38212	0.934000	0.37439	0.591000	0.36615	2.642000	0.46596	2.254000	0.74563	0.533000	0.62120	GAT		0.338	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		56	402	0	0	0	1	0	56	402					C	101115212	T	C	101115212	3	2	44	1	0	0	0	0	1	0	0	0	8851	1435	50	4	1678	4	LINS1	15	101115212	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	37089985	101115212	1416180	131	5192											
FAM18A	780776	broad.mit.edu	37	chr16	10867202	10867203	+	Frame_Shift_Ins	INS	-	-	A													ttcaaggaaaataaggtgctINSaaaaaaaaacacaatccata							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:10867202_10867203insA	ENST00000299866.8	-	5	711_712	c.420_421insT	c.(418-423)tttagcfs	p.S141fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	141						integral component of membrane (GO:0016021)											AATAAGGTGCTAAAAAAAAACA	0.446																																						ENST00000299866.8																			0											c.(418-423)ttgcacfs		trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)				2,3608		1,0,1804						4.6	1			74	4,7846		0,4,3921	no	frameshift	FAM18A	NM_001079512.2		1,4,5725	A1A1,A1R,RR		0.051,0.0554,0.0524				6,11454				SO:0001589	frameshift_variant	780776							g.chr16:10867202_10867203insA		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.421dupT	16.37:g.10867211_10867211dupA	ENSP00000299866:p.Ser141fs					TVP23A_ENST00000572980.1_5'UTR	p.LH140fs	NM_001079512.2	NP_001072980.1					5	711_712	-								B2RUV4|B7ZW18	Frame_Shift_Ins	INS	ENST00000299866.8	37	c.420_421insT	CCDS45408.1																																																																																				0.446	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		10	311						10	311	---	---	---	---	A	10867203	-	A	10867202	7	5	44	1	0	1	1	0	0	0	0	0	5539	1522	53	0	232	0	FAM18A	16	10867202	Frame_Shift_Ins	INS	-	TCGA-F2-A8YN-01A-11D-A377-08		10867202	79487551	132	5193											
RBBP6	5930	broad.mit.edu	37	chr16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttattctcgatcattcaGccgctcacattctcgttcct	4	15	6	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	720					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGATCATTCAGCCGCTCACAT	0.438																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(2158-2160)aGc>aTc		retinoblastoma binding protein 6							149	131	137					16																	24580170		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580170G>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2159G>T	16.37:g.24580170G>T	ENSP00000317872:p.Ser720Ile					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I	p.S720I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	2591	+			720					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.2159G>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497395	0.44455	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.25414	1.95;1.8	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.44603	0.1301	L	0.34521	1.04	0.40089	D	0.976239	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.31724	-0.9933	10	0.72032	D	0.01	-12.372	20.4581	0.99154	0.0:0.0:1.0:0.0	.	686;720	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	720;686	ENSP00000317872:S720I;ENSP00000316291:S686I	ENSP00000317872:S720I	S	+	2	0	RBBP6	24487671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.835000	0.97688	0.650000	0.86243	AGC		0.438	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		29	457	1	0	7.26314e-15	1	7.61356e-15	29	457					T	24580170	G	T	24580170	3	4	44	1	0	0	0	0	1	0	0	0	13153	971	34	3	2279	3	RBBP6	16	24580170	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	13712968	24580170	65774583	133	5194											
SEPHS2	22928	broad.mit.edu	37	chr16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgatatctgtggccGcatgggcattaaatgtgtgc	13	8	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(937-939)gCg>gTg		selenophosphate synthetase 2							98	91	93					16																	30456111		1944	4143	6087	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456111G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.938C>T	16.37:g.30456111G>A	ENSP00000418669:p.Ala313Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V	p.A313V			Q99611	SPS2_HUMAN			1	1391	-			313					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.938C>T		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG		0.448	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	571	0	0	0	1	0	5	571					A	30456111	G	A	30456111	3	1	44	1	0	0	0	0	1	0	0	0	14105	1087	38	1	412	1	SEPHS2	16	30456111	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	5875941	30456111	59898642	134	5195											
KCTD19	146212	broad.mit.edu	37	chr16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccagcgcagagtccGggtacttgaccagcagaccc	13	15	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	298					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCAGAGTCCGGGTACTTGAC	0.622																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(892-894)cCg>cTg		potassium channel tetramerization domain containing 19							92	101	98					16																	67333359		2049	4201	6250	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333359G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.893C>T	16.37:g.67333359G>A	ENSP00000305702:p.Pro298Leu					KCTD19_ENST00000562860.1_5'UTR	p.P298L	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	948	-		Ovarian(137;0.192)	298					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.893C>T	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044864	0.93685	.	.	ENSG00000168676	ENST00000304372	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.75250	0.3824	L	0.50333	1.59	0.53688	D	0.999976	D	0.89917	1.0	D	0.79108	0.992	T	0.75977	-0.3127	10	0.87932	D	0	-15.5417	17.0645	0.86556	0.0:0.0:1.0:0.0	.	298	Q17RG1	KCD19_HUMAN	L	298	ENSP00000305702:P298L	ENSP00000305702:P298L	P	-	2	0	KCTD19	65890860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.859000	0.69539	2.884000	0.98904	0.655000	0.94253	CCG		0.622	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		137	413	0	0	0	1	0	137	413					A	67333359	G	A	67333359	3	1	44	1	0	0	0	0	1	0	0	0	8136	1116	39	1	1931	1	KCTD19	16	67333359	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	36877248	67333359	23021394	135	5196											
NIP7	51388	broad.mit.edu	37	chr16	69373736	69373736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacccagggggaaaaatgCggcctttgactgaagaggag	14	9	0	3	rs561878471		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:69373736C>T	ENST00000254940.5	+	1	404	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000562081.1_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W|COG8_ENST00000306875.4_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	2	N-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGAAAAATGCGGCCTTTGAC	0.592											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254940.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(4-6)Cgg>Tgg		NIP7, nucleolar pre-rRNA processing protein							135	155	149					16																	69373736		2198	4300	6498	SO:0001583	missense	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69373736C>T	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"nuclear import 7 homolog (S. cerevisiae)"			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.4C>T	16.37:g.69373736C>T	ENSP00000254940:p.Arg2Trp		OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W	p.R2W	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN			1	404	+		Ovarian(137;0.101)	2					B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	c.4C>T	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466306	0.43839	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.69	-0.394	0.12434	.	0.131434	0.53938	D	0.000048	D	0.84165	0.5412	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.86223	0.1632	9	0.87932	D	0	-3.7941	12.5225	0.56067	0.6287:0.272:0.0994:0.0	.	2;2	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	W	2	.	ENSP00000254940:R2W	R	+	1	2	NIP7	67931237	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	0.740000	0.26188	0.012000	0.14892	0.456000	0.33151	CGG		0.592	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101		7	1311	0	0	0	1	0	7	1311					T	69373736	C	T	69373736	3	4	44	1	0	0	0	0	1	0	0	0	10463	759	27	1	6	1	NIP7	16	69373736	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	2040377	69373736	20981017	136	5197											
HYDIN	54768	broad.mit.edu	37	chr16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgtccaccacgagtGccagctcgtatttctgcaca	7	17	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672					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.A672E(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)				CACCACGAGTGCCAGCTCGTA	0.532																																						ENST00000393567.2																			3	Substitution - Missense(3)	p.A672E(3)	large_intestine(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						c.(2014-2016)gCa>gAa		HYDIN, axonemal central pair apparatus protein							77	65	69					16																	71101253		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71101253G>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.2015C>A	16.37:g.71101253G>T	ENSP00000377197:p.Ala672Glu					HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E	p.A672E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			15	2165	-		Ovarian(137;0.0654)	672					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2015C>A	CCDS59269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890	T;T;T;T;T;T;T;T|.	0.06371|.	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.32703|.	U|.	0.005751|.	T|T	0.67822|0.67822	0.2934|0.2934	L|L	0.48642|0.48642	1.525|1.525	0.47994|0.47994	D|D	0.99956|0.99956	P;P;B;P;D|.	0.89917|.	0.875;0.875;0.34;0.875;1.0|.	P;P;B;P;D|.	0.87578|.	0.729;0.729;0.108;0.547;0.998|.	T|T	0.65413|0.65413	-0.6174|-0.6174	10|5	0.06365|.	T|.	0.9|.	.|.	17.1332|17.1332	0.86732|0.86732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;689;689;672;672|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	E|N	672;672;672;672;672;699;689;689;687|74	ENSP00000377197:A672E;ENSP00000398544:A672E;ENSP00000394826:A672E;ENSP00000314736:A672E;ENSP00000444970:A699E;ENSP00000437341:A689E;ENSP00000288168:A689E;ENSP00000377181:A687E|.	ENSP00000288168:A689E|.	A|H	-|-	2|1	0|0	HYDIN|HYDIN	69658754|69658754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	6.181000|6.181000	0.71988|0.71988	2.332000|2.332000	0.79248|0.79248	0.603000|0.603000	0.83216|0.83216	GCA|CAC		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			95	226	1	0	8.98033e-41	1	9.62466e-41	95	226					T	71101253	G	T	71101253	3	4	44	1	0	0	0	0	1	0	0	0	7497	1319	46	3	13647	3	HYDIN	16	71101253	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1727517	71101253	19253500	137	5198											
ZZEF1	23140	broad.mit.edu	37	chr17	3936124	3936124	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagagtgtggtacctGggggaagccaaccagcacga	14	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:3936124G>A	ENST00000381638.2	-	41	6881	c.6757C>T	c.(6757-6759)Cag>Tag	p.Q2253*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2253							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTGGTACCTGGGGGAAGCCA	0.537																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6757-6759)Cag>Tag		zinc finger, ZZ-type with EF-hand domain 1							100	73	82					17																	3936124		2203	4300	6503	SO:0001587	stop_gained	23140						calcium ion binding|zinc ion binding	g.chr17:3936124G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6757C>T	17.37:g.3936124G>A	ENSP00000371051:p.Gln2253*						p.Q2253*	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			41	6881	-			2253					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	c.6757C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573202	0.97676	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.39	4.34	0.51931	.	0.170785	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.6073	12.3702	0.55250	0.0:0.3496:0.6504:0.0	.	.	.	.	X	2253	.	ENSP00000371051:Q2253X	Q	-	1	0	ZZEF1	3882873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.327000	0.65881	2.683000	0.91414	0.591000	0.81541	CAG		0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	116	0	0	0	1	0	4	116					A	3936124	G	A	3936124	4	1	44	1	0	0	0	0	0	1	0	0	18308	1357	47	2	2188	2	ZZEF1	17	3936124	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		3936124	77259086	138	5199											
TP53	7157	broad.mit.edu	37	chr17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-													ccagttgcaaaccagacctcAggcggctcatagggcaccac					rs121912666|rs72661118|rs138983188|rs146340390		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000269305.4	-	6	848_858	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(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)	ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.55		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)	ENST00000420246.2		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"		418	Substitution - Missense(342)|Substitution - Nonsense(20)|Deletion - Frameshift(15)|Unknown(12)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)	p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1)	ovary(64)|breast(58)|upper_aerodigestive_tract(50)|lung(44)|urinary_tract(25)|large_intestine(23)|oesophagus(20)|stomach(19)|haematopoietic_and_lymphoid_tissue(19)|central_nervous_system(18)|liver(18)|endometrium(14)|soft_tissue(10)|biliary_tract(7)|skin(6)|prostate(5)|bone(5)|pancreas(4)|peritoneum(2)|thyroid(2)|vulva(1)|meninges(1)|salivary_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-669)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578180_7578190delAGGCGGCTCAT	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.659_669delATGAGCCGCCT	17.37:g.7578180_7578190delAGGCGGCTCAT	ENSP00000269305:p.Tyr220fs	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_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs	p.YEPP220fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791_801	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.659_669delATGAGCCGCCT	CCDS11118.1																																																																																				0.55	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	93						18	93	---	---	---	---	-	7578190	AGGCGGCTCAT	-	7578180	7	5	44	1	0	1	0	1	0	0	0	0	16434	175	7	0	625	0	TP53	17	7578180	Frame_Shift_Del	DEL	AGGCGGCTCAT	TCGA-F2-A8YN-01A-11D-A377-08	3642056	7578180	73617030	139	5200											
MYH13	8735	broad.mit.edu	37	chr17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcaggtccttcaccGtctgctccaggttcttcttc	10	14	4	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1793					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCTTCACCGTCTGCTCCAG	0.552																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5377-5379)aCg>aTg		myosin, heavy chain 13, skeletal muscle							148	148	148					17																	10209864		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209864G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5378C>T	17.37:g.10209864G>A	ENSP00000404570:p.Thr1793Met					MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M|MYH13_ENST00000570743.1_Missense_Mutation_p.T1793M	p.T1793M			Q9UKX3	MYH13_HUMAN			36	5541	-			1793					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5378C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779373	0.70107	.	.	ENSG00000006788	ENST00000252172	T	0.78246	-1.16	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.86648	0.5983	H	0.95850	3.73	0.38306	D	0.943117	B	0.30193	0.272	B	0.39617	0.305	D	0.89946	0.4076	9	0.72032	D	0.01	.	12.7179	0.57125	0.0831:0.0:0.9169:0.0	.	1793	Q9UKX3	MYH13_HUMAN	M	1793	ENSP00000252172:T1793M	ENSP00000252172:T1793M	T	-	2	0	MYH13	10150589	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.439000	0.73430	2.347000	0.79759	0.491000	0.48974	ACG		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		209	317	0	0	0	1	0	209	317					A	10209864	G	A	10209864	3	1	44	1	0	0	0	0	1	0	0	0	10073	1145	40	1	458	1	MYH13	17	10209864	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2631684	10209864	70985346	140	5201											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		9	230						9	230	---	---	---	---	-	16335492	TGC	-	16335490	7	5	44	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-F2-A8YN-01A-11D-A377-08	6125626	16335490	64859720	141	5202											
KCNJ12	3768	broad.mit.edu	37	chr17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccgcatctttctggtgtCgcccatcaccatcttgcatg	9	14	4	0	rs144590967		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	266					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTTCTGGTGTCGCCCATCACC	0.607										Prostate(3;0.18)			.|||	1	0.000199681	0.0	0.0	5008	,	,		40292	0.0		0.001	False		,,,				2504	0.0					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(796-798)tCg>tTg		potassium inwardly-rectifying channel, subfamily J, member 12		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	124	92	103		797	5.4	0.9	17	dbSNP_134	103	1,8599		0,1,4299	yes	missense	KCNJ12	NM_021012.4	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	266/434	21319451	3,13003	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319451C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.797C>T	17.37:g.21319451C>T	ENSP00000463778:p.Ser266Leu	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	p.S266L	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1692	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.797C>T	CCDS11219.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.4	4.736363	0.89482	4.54E-4	1.16E-4	ENSG00000184185	ENST00000331718	D	0.90385	-2.66	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93754	0.7061	10	0.56958	D	0.05	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	266	Q14500	IRK12_HUMAN	L	266	ENSP00000328150:S266L	ENSP00000328150:S266L	S	+	2	0	KCNJ12	21260044	1.000000	0.71417	0.935000	0.37517	0.924000	0.55760	7.680000	0.84062	2.554000	0.86153	0.655000	0.94253	TCG		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		51	146	0	0	0	1	0	51	146					T	21319451	C	T	21319451	3	4	44	1	0	0	0	0	1	0	0	0	8076	893	31	1	799	1	KCNJ12	17	21319451	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	4983961	21319451	59875759	142	5203											
KRT26	353288	broad.mit.edu	37	chr17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcatctttgcggttctGctcagccaagtcctcatact	7	13	5	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGGTTCTGCTCAGCCAAG	0.522																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(805-807)Cag>Tag		keratin 26							229	201	211					17																	38926251		2203	4300	6503	SO:0001587	stop_gained	353288					intermediate filament	structural molecule activity	g.chr17:38926251G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.805C>T	17.37:g.38926251G>A	ENSP00000334798:p.Gln269*						p.Q269*	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			4	853	-		Breast(137;0.00526)	269			Coil 2.|Rod.			Nonsense_Mutation	SNP	ENST00000335552.4	37	c.805C>T	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886500	0.91814	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.0	4.01	0.46588	.	0.113960	0.39834	N	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2179	0.37360	0.0:0.1394:0.5984:0.2622	.	.	.	.	X	269	.	ENSP00000334798:Q269X	Q	-	1	0	KRT26	36179777	0.996000	0.38824	1.000000	0.80357	0.883000	0.51084	2.338000	0.43957	1.206000	0.43276	0.655000	0.94253	CAG		0.522	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		236	342	0	0	0	1	0	236	342					A	38926251	G	A	38926251	4	1	44	1	0	0	0	0	0	1	0	0	8493	1328	46	2	621	2	KRT26	17	38926251	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	17606800	38926251	42268959	143	5204											
NPEPPS	9520	broad.mit.edu	37	chr17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctatatcatatagcaAaggtgcatctgtcatccgaa	8	8	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCATATAGCAAAGGTGCATCT	0.378																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1318-1320)aAa>aGa		aminopeptidase puromycin sensitive							156	90	112					17																	45669380		1976	4119	6095	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45669380A>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1319A>G	17.37:g.45669380A>G	ENSP00000320324:p.Lys440Arg					NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR	p.K440R	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			11	1556	+			440					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1319A>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881700	0.91740	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65261	-0.6211	10	0.87932	D	0	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	440;436;440	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	R	436;440;427;360;123;137	ENSP00000433287:K436R;ENSP00000320324:K440R;ENSP00000442461:K360R;ENSP00000435639:K123R;ENSP00000435966:K137R	ENSP00000320324:K440R	K	+	2	0	NPEPPS	43024379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	AAA		0.378	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		26	146	0	0	0	1	0	26	146					G	45669380	A	G	45669380	3	3	44	1	0	0	0	0	1	0	0	0	10617	14	1	4	1361	4	NPEPPS	17	45669380	Missense_Mutation	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	6743129	45669380	35525830	144	5205											
SAMD14	201191	broad.mit.edu	37	chr17	48191617	48191617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctgccagggcccactGgggatcttggggctgctgct	15	14	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Silent_p.P320P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	292										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGGCCCACTGGGGATCTTGG	0.597																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(874-876)ccC>ccA		sterile alpha motif domain containing 14							53	52	53					17																	48191617		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48191617G>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.876C>A	17.37:g.48191617G>T						SAMD14_ENST00000503131.1_Silent_p.P320P	p.P292P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			8	1193	-			292					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.876C>A	CCDS58562.1																																																																																				0.597	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		7	154	1	0	0.00198382	1	0.00200056	7	154					T	48191617	G	T	48191617	2	4	44	1	0	0	0	0	0	0	0	1	13869	1335	47	3		3	SAMD14	17	48191617	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2522237	48191617	33003593	145	5206											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccgaggggaaggtccCgaaaagggtgggctgacacc	16	12	0	1	rs370465816		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1546-1548)cGg>cAg		l(3)mbt-like 4 (Drosophila)		C	GLN/ARG	1,4223		0,1,2111	70	79	76		1547	2.8	0.5	18		76	0,8458		0,0,4229	no	missense	L3MBTL4	NM_173464.3	43	0,1,6340	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	516/624	5969486	1,12681	2112	4229	6341	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969486C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1547G>A	18.37:g.5969486C>T	ENSP00000284898:p.Arg516Gln					L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q	p.R516Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN			18	1747	-		Colorectal(10;0.0249)	516					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1547G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479138	0.63849	2.37E-4	0.0	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.15718	2.4;2.49;2.4;2.49	5.53	2.8	0.32819	.	0.165870	0.39985	N	0.001214	T	0.31263	0.0791	M	0.66939	2.045	0.31034	N	0.717072	D;D	0.76494	0.989;0.999	P;D	0.67382	0.772;0.951	T	0.22312	-1.0220	10	0.20519	T	0.43	.	8.205	0.31449	0.0:0.77:0.0:0.23	.	516;507	Q8NA19;F8W9S8	LMBL4_HUMAN;.	Q	516;507;516;320	ENSP00000382976:R516Q;ENSP00000318543:R507Q;ENSP00000284898:R516Q;ENSP00000444774:R320Q	ENSP00000284898:R516Q	R	-	2	0	L3MBTL4	5959486	0.001000	0.12720	0.480000	0.27341	0.672000	0.39443	0.433000	0.21477	0.301000	0.22738	0.655000	0.94253	CGG		0.607	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		18	312	0	0	0	1	0	18	312					T	5969486	C	T	5969486	3	4	44	1	0	0	0	0	1	0	0	0	8625	652	23	1	336	1	L3MBTL4	18	5969486	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		5969486	72107762	146	5207											
NDUFV2	4729	broad.mit.edu	37	chr18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttacaagtacctccaatGagagtatatgaagtagcaac	8	7	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:9122540G>A	ENST00000318388.6	+	5	444	c.330G>A	c.(328-330)atG>atA	p.M110I	NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.M113I|RP11-143J12.2_ENST00000583081.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						TACCTCCAATGAGAGTATATG	0.328																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(337-339)atG>atA		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						99	96	97					18																	9122540		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122540G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.330G>A	18.37:g.9122540G>A	ENSP00000327268:p.Met110Ile					RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA	p.M113I			P19404	NDUV2_HUMAN			6	456	+			110					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.339G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		11	1039	0	0	0	1	0	11	1039					A	9122540	G	A	9122540	3	1	44	1	0	0	0	0	1	0	0	0	10342	1290	45	2	348	2	NDUFV2	18	9122540	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3153054	9122540	68954708	147	5208											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				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.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	627						7	627	---	---	---	---	-	55992286	TCC	-	55992284	7	5	44	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-F2-A8YN-01A-11D-A377-08	46869744	55992284	22084964	148	5209											
NFIC	4782	broad.mit.edu	37	chr19	3449068	3449068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccattcaacagcccgTccccccaggactctccccgc	6	21	3	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:3449068T>C	ENST00000443272.2	+	7	1066	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000589123.1_Missense_Mutation_p.S330P|NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	339					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACAGCCCGTCCCCCCAGGA	0.667																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(988-990)Tcc>Ccc		nuclear factor I/C (CCAAT-binding transcription factor)							98	72	81					19																	3449068		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3449068T>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1015T>C	19.37:g.3449068T>C	ENSP00000396843:p.Ser339Pro					NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P	p.S330P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	7	1108	+		Hepatocellular(1079;0.137)	339					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.988T>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506759	0.64410	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.55234	0.53;0.53;0.53	3.96	3.96	0.45880	.	0.072508	0.56097	D	0.000026	T	0.63943	0.2554	L	0.51422	1.61	0.42717	D	0.99366	P;D;P;D;P	0.69078	0.761;0.995;0.718;0.997;0.879	P;D;B;D;P	0.71414	0.478;0.943;0.426;0.973;0.662	T	0.66110	-0.6005	10	0.56958	D	0.05	-8.8863	11.6991	0.51560	0.0:0.0:0.0:1.0	.	339;339;330;339;330	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	P	330;330;306;339;339;339	ENSP00000378543:S330P;ENSP00000301935:S306P;ENSP00000342194:S339P	ENSP00000269778:S339P	S	+	1	0	NFIC	3400068	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	5.412000	0.66392	1.441000	0.47550	0.459000	0.35465	TCC		0.667	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		11	139	0	0	0	1	0	11	139					C	3449068	T	C	3449068	3	2	44	1	0	0	0	0	1	0	0	0	10414	1667	58	4	1048	4	NFIC	19	3449068	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08		3449068	55679915	149	5210											
CD97	976	broad.mit.edu	37	chr19	14499539	14499539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtggtgccctcagaaCtcctcgtgtgtcaatgccac	11	15	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(97-99)aaC>aaT		CD97 molecule							131	134	133					19																	14499539		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14499539C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.99C>T	19.37:g.14499539C>T						CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N	p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			3	179	+			33			EGF-like 1.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.99C>T	CCDS32929.1																																																																																				0.587	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	691	0	0	0	1	0	9	691					T	14499539	C	T	14499539	2	4	44	1	0	0	0	0	0	0	0	1	3058	564	20	2		2	CD97	19	14499539	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11050471	14499539	44629444	150	5211											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-													agacatggtggagacggctgTttttggtactgagaacaacc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301	275	284					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1581						7	1581	---	---	---	---	-	16908642	T	-	16908642	7	5	44	1	0	1	0	1	0	0	0	0	10823	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-F2-A8YN-01A-11D-A377-08	2409103	16908642	42220341	151	5212											
CPAMD8	27151	broad.mit.edu	37	chr19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtagaagagcactcggCgtccagccacttcatacctc	8	14	1	2	rs202120343		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1608						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCACTCGGCGTCCAGCCAC	0.577																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4963-4965)cGc>cAc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	HIS/ARG	1,4185		0,1,2092	61	69	66		4964	2.9	1	19		66	2,8430		0,2,4214	yes	missense	CPAMD8	NM_015692.2	29	0,3,6306	TT,TC,CC		0.0237,0.0239,0.0238	probably-damaging	1655/1933	17010311	3,12615	2093	4216	6309	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17010311C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4964G>A	19.37:g.17010311C>T	ENSP00000402505:p.Arg1655His						p.R1655H	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			37	4995	-			1608					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4964G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.367865|4.367865	0.82463|0.82463	2.39E-4|2.39E-4	2.37E-4|2.37E-4	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.79198|0.79198	-0.1902|-0.1902	5|9	.|0.66056	.|D	.|0.02	.|.	14.1052|14.1052	0.65085|0.65085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1608	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1666|1655	.|.	.|ENSP00000291440:R1655H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16871311|16871311	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	5.548000|5.548000	0.67255|0.67255	1.364000|1.364000	0.46038|0.46038	0.543000|0.543000	0.68304|0.68304	GCC|CGC		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		71	195	0	0	0	1	0	71	195					T	17010311	C	T	17010311	3	4	44	1	0	0	0	0	1	0	0	0	3804	768	27	1	858	1	CPAMD8	19	17010311	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	101669	17010311	42118672	152	5213											
CPAMD8	27151	broad.mit.edu	37	chr19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgctgaaggacagaaCgacccagatgggctcagcct	13	12	1	3	rs199613595		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0					ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2764-2766)Gtt>Att		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							112	113	113					19																	17057923		1990	4153	6143	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057923C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2764G>A	19.37:g.17057923C>T	ENSP00000402505:p.Val922Ile						p.V922I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2795	-			875					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2764G>A	CCDS42519.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.25	1.582552	0.28180	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	1.2	0.21068	.	0.085942	0.47093	N	0.000245	T	0.26629	0.0651	L	0.48877	1.53	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.13124	-1.0521	9	0.17369	T	0.5	.	7.8366	0.29374	0.0:0.7433:0.1633:0.0935	.	875	Q8IZJ3	CPMD8_HUMAN	I	922	.	ENSP00000291440:V922I	V	-	1	0	CPAMD8	16918923	0.997000	0.39634	0.018000	0.16275	0.076000	0.17211	4.779000	0.62375	0.036000	0.15547	0.491000	0.48974	GTT		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		234	513	0	0	0	1	0	234	513					T	17057923	C	T	17057923	3	4	44	1	0	0	0	0	1	0	0	0	3804	536	19	1	3122	1	CPAMD8	19	17057923	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	47612	17057923	42071060	153	5214											
ZNF536	9745	broad.mit.edu	37	chr19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgttgtgcgacttcgCggcttcgcaggaggaggagc	17	10	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					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)			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)					TGCGACTTCGCGGCTTCGCAG	0.642																																						ENST00000355537.3																			0				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						c.(922-924)gCg>gTg		zinc finger protein 536							76	85	82					19																	30935392		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935392C>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.923C>T	19.37:g.30935392C>T	ENSP00000347730:p.Ala308Val						p.A308V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1070	+	Esophageal squamous(110;0.0834)		308					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.923C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675111	0.47781	.	.	ENSG00000198597	ENST00000355537	T	0.29142	1.58	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43442	-0.9391	10	0.56958	D	0.05	-25.2974	19.5661	0.95393	0.0:1.0:0.0:0.0	.	308;308	A7E228;O15090	.;ZN536_HUMAN	V	308	ENSP00000347730:A308V	ENSP00000347730:A308V	A	+	2	0	ZNF536	35627232	1.000000	0.71417	0.962000	0.40283	0.740000	0.42216	7.788000	0.85771	2.631000	0.89168	0.491000	0.48974	GCG		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	634	0	0	0	1	0	5	634					T	30935392	C	T	30935392	3	4	44	1	0	0	0	0	1	0	0	0	18027	768	27	1	925	1	ZNF536	19	30935392	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	13877469	30935392	28193591	154	5215											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	794	0	0	0	1	0	6	794					C	40580666	T	C	40580666	2	2	44	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	9645274	40580666	18548317	155	5216											
PRX	57716	broad.mit.edu	37	chr19	40901643	40901644	+	Frame_Shift_Ins	INS	-	-	G													ccttgcccattttagcggctINSgggacctgcccctgcaggcc					rs374001049		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:40901643_40901644insG	ENST00000324001.7	-	7	2885_2886	c.2615_2616insC	c.(2614-2616)ccafs	p.P872fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	872					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTTAGCGGCTGGGACCTGCCC	0.629																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2614-2616)cgcfs		periaxin																																				SO:0001589	frameshift_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901643_40901644insG	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2616dupC	19.37:g.40901646_40901646dupG	ENSP00000326018:p.Pro872fs					PRX_ENST00000291825.7_3'UTR	p.R872fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2885_2886	-			872					Q9BXL9|Q9HCF2	Frame_Shift_Ins	INS	ENST00000324001.7	37	c.2615_2616insC	CCDS33028.1																																																																																				0.629	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		7	383						7	383	---	---	---	---	G	40901644	-	G	40901643	7	5	44	1	0	1	1	0	0	0	0	0	12689	1567	55	0	1773	0	PRX	19	40901643	Frame_Shift_Ins	INS	-	TCGA-F2-A8YN-01A-11D-A377-08	320977	40901643	18227340	156	5217											
CYP2A7	1549	broad.mit.edu	37	chr19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctttttaaccctgcGggccaaactcatggggatca	11	11	2	0	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	372						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTAACCCTGCGGGCCAAACTC	0.547																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1114-1116)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	90	94		1114,961	2.3	0	19	dbSNP_134	94	0,8598		0,0,4299	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	180,180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	372/495,321/444	41383142	1,13003	2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383142G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1114C>T	19.37:g.41383142G>A	ENSP00000301146:p.Arg372Cys					CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron	p.R372C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1655	-			372					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1114C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813432	0.50527	2.27E-4	0.0	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.81078	-1.45;-1.45	2.29	2.29	0.28610	.	0.199062	0.42821	U	0.000649	D	0.90003	0.6879	M	0.89658	3.05	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.996;0.88;0.999	T	0.81795	-0.0769	10	0.87932	D	0	.	11.6888	0.51503	0.0:0.0:1.0:0.0	.	372;321;372	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	372;321	ENSP00000301146:R372C;ENSP00000291764:R321C	ENSP00000291764:R321C	R	-	1	0	CYP2A7	46074982	0.722000	0.28017	0.002000	0.10522	0.219000	0.24729	4.340000	0.59328	1.280000	0.44463	0.184000	0.17185	CGC		0.547	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		118	314	0	0	0	1	0	118	314					A	41383142	G	A	41383142	3	1	44	1	0	0	0	0	1	0	0	0	4174	1116	39	1	382	1	CYP2A7	19	41383142	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	481499	41383142	17745841	157	5218											
NR1H2	7376	broad.mit.edu	37	chr19	50881485	50881485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggccacgagctttgCcgtgtctgtggggacaaggc	16	10	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(259-261)tgC>tgT		nuclear receptor subfamily 1, group H, member 2							90	109	103					19																	50881485		2187	4297	6484	SO:0001819	synonymous_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881485C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.261C>T	19.37:g.50881485C>T						NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR	p.C87C	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	496	+		all_neural(266;0.057)	87					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	c.261C>T	CCDS42593.1																																																																																				0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			7	1178	0	0	0	1	0	7	1178					T	50881485	C	T	50881485	2	4	44	1	0	0	0	0	0	0	0	1	10659	747	26	2		2	NR1H2	19	50881485	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	9498343	50881485	8247498	158	5219											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-													gccgcagaggaaggagccatCccccccttcaaagcagtcct							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:23065992delC	ENST00000246006.4	-	1	985	c.838delG	c.(838-840)gatfs	p.D280fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	280	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGGAGCCATCCCCCCCTTCA	0.627																																						ENST00000246006.4																			1	Substitution - Missense(1)	p.D280N(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(838-840)atfs		CD93 molecule							76	86	82					20																	23065992		2203	4300	6503	SO:0001589	frameshift_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065992delC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.838delG	20.37:g.23065992delC	ENSP00000246006:p.Asp280fs						p.D280fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	985	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		280			EGF-like 1.		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.838delG	CCDS13149.1																																																																																				0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		8	808						8	808	---	---	---	---	-	23065992	C	-	23065992	7	5	44	1	0	1	0	1	0	0	0	0	3056	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Del	DEL	C	TCGA-F2-A8YN-01A-11D-A377-08		23065992	39959528	159	5220											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		6	671	0	0	0	1	0	6	671					A	34241168	G	A	34241168	3	1	44	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11175176	34241168	28784352	160	5221											
LPIN3	64900	broad.mit.edu	37	chr20	39981287	39981287	+	Frame_Shift_Del	DEL	A	A	-													tctcttaccaggacctcaccAaaaaccccggacttttggat							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:39981287delA	ENST00000373257.3	+	10	1496	c.1405delA	c.(1405-1407)aaafs	p.K469fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	469					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACCTCACCAAAAACCCCGG	0.562																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1405-1407)aafs		lipin 3							166	182	177					20																	39981287		2203	4300	6503	SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981287delA	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1405delA	20.37:g.39981287delA	ENSP00000362354:p.Lys469fs						p.K469fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1496	+		Myeloproliferative disorder(115;0.000739)	469					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Del	DEL	ENST00000373257.3	37	c.1405delA	CCDS33469.1																																																																																				0.562	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		7	1241						7	1241	---	---	---	---	-	39981287	A	-	39981287	7	5	44	1	0	1	0	1	0	0	0	0	8958	131	5	0	1439	0	LPIN3	20	39981287	Frame_Shift_Del	DEL	A	TCGA-F2-A8YN-01A-11D-A377-08	5740119	39981287	23044233	161	5222											
SLMO2	51012	broad.mit.edu	37	chr20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatatgtctgtccaacacaTcaactccaaccacacttggg	5	14	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	37	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCAACACATCAACTCCAAC	0.478																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(109-111)gAt>gTt		slowmo homolog 2 (Drosophila)							125	119	121					20																	57613612		1937	4140	6077	SO:0001583	missense	51012							g.chr20:57613612T>A	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 45"	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.110A>T	20.37:g.57613612T>A	ENSP00000348206:p.Asp37Val					SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	288	-	all_lung(29;0.00711)		37			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.110A>T	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560690	0.86335	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.32515	1.45;1.45	5.36	5.36	0.76844	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.936;0.996	T	0.81703	-0.0812	10	0.87932	D	0	-10.0953	14.8261	0.70113	0.0:0.0:0.0:1.0	.	37;37	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	V	37	ENSP00000348206:D37V;ENSP00000360072:D37V	ENSP00000348206:D37V	D	-	2	0	SLMO2	57047007	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.578000	0.82498	2.153000	0.67306	0.533000	0.62120	GAT		0.478	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		211	477	0	0	0	1	0	211	477					A	57613612	T	A	57613612	3	1	44	1	0	0	0	0	1	0	0	0	14801	1435	50	5	494	5	SLMO2	20	57613612	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	17632325	57613612	5411908	162	5223											
MYO18B	84700	broad.mit.edu	37	chr22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagggagtgaagggaagcacGtaaggccccaaatccctggg	15	9	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000407587.2	+	4	1094	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	309						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGGGAAGCACGTAAGGCCCCA	0.557																																						ENST00000335473.7																			0				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						c.(925-927)Gta>Tta		myosin XVIIIB							27	29	29					22																	26164808		1977	4151	6128	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164808G>T	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.925G>T	22.37:g.26164808G>T	ENSP00000386096:p.Val309Leu					MYO18B_ENST00000407587.2_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L	p.V309L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1175	+			309					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.925G>T		.	.	.	.	.	.	.	.	.	.	g	9.910	1.209362	0.22289	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86297	-2.08;-2.08;-2.1	4.6	1.27	0.21489	.	1.784430	0.03308	N	0.190055	T	0.78168	0.4241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.61347	-0.7081	10	0.33940	T	0.23	.	5.4849	0.16743	0.1802:0.0:0.6607:0.1591	.	309;309;309	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	L	309	ENSP00000441229:V309L;ENSP00000334563:V309L;ENSP00000386096:V309L	ENSP00000334563:V309L	V	+	1	0	MYO18B	24494808	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.692000	0.05127	0.051000	0.15978	0.306000	0.20318	GTA		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		25	44	1	0	9.86323e-18	1	1.04306e-17	25	44					T	26164808	G	T	26164808	3	4	44	1	0	0	0	0	1	0	0	0	10107	1145	40	3	935	3	MYO18B	22	26164808	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		26164808	25139758	163	5224											
ZNRF3	84133	broad.mit.edu	37	chr22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcctctattccccgCagacccccgcctacatccgc	7	20	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	411					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTATTCCCCGCAGACCCCCGC	0.682																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1231-1233)Cag>Tag		zinc and ring finger 3							36	44	41					22																	29445400		2147	4239	6386	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29445400C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1231C>T	22.37:g.29445400C>T	ENSP00000443824:p.Gln411*					ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	p.Q411*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1406	+			411					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.1231C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353092	0.95830	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.307718	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.0863	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	411;311;118;311;311	.	ENSP00000328614:Q311X	Q	+	1	0	ZNRF3	27775400	1.000000	0.71417	0.851000	0.33527	0.570000	0.35934	5.647000	0.67923	2.593000	0.87608	0.655000	0.94253	CAG		0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		55	144	0	0	0	1	0	55	144					T	29445400	C	T	29445400	4	4	44	1	0	0	0	0	0	1	0	0	18266	711	25	2	957	2	ZNRF3	22	29445400	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	3280592	29445400	21859166	164	5225											
DRG1	4733	broad.mit.edu	37	chr22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgccgatgtgactctacGtagtgatgctacagctgatg	11	8	1	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	222	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)	p.R222H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GTGACTCTACGTAGTGATGCT	0.478																																						ENST00000331457.4																			1	Substitution - Missense(1)	p.R222H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(664-666)cGt>cAt		developmentally regulated GTP binding protein 1							166	131	143					22																	31819348		2203	4298	6501	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31819348G>A	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.665G>A	22.37:g.31819348G>A	ENSP00000329715:p.Arg222His						p.R222H	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			6	826	+			222					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.665G>A	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276534	0.80580	.	.	ENSG00000185721	ENST00000331457	T	0.37584	1.19	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.85859	2.78	0.80722	D	1	B	0.22146	0.065	B	0.27170	0.077	T	0.53457	-0.8436	10	0.59425	D	0.04	-11.3866	18.1039	0.89513	0.0:0.0:1.0:0.0	.	222	Q9Y295	DRG1_HUMAN	H	222	ENSP00000329715:R222H	ENSP00000329715:R222H	R	+	2	0	DRG1	30149348	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.858000	0.92256	2.581000	0.87130	0.563000	0.77884	CGT		0.478	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		7	287	0	0	0	1	0	7	287					A	31819348	G	A	31819348	3	1	44	1	0	0	0	0	1	0	0	0	4777	1145	40	1	687	1	DRG1	22	31819348	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2373948	31819348	19485218	165	5226											
RANGAP1	5905	broad.mit.edu	37	chr22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgcatcctgcactgCcatcctcacagtagcttcgt	6	16	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCACTGCCATCCTCACA	0.557																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1465-1467)Gca>Aca		Ran GTPase activating protein 1							230	152	178					22																	41647029		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41647029C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1465G>A	22.37:g.41647029C>T	ENSP00000401470:p.Ala489Thr					RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T	p.A489T			P46060	RAGP1_HUMAN			12	2934	-			489					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1465G>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204016	0.79127	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.53	4.53	0.55603	Ran-GTPase activating protein 1, C-terminal (3);	0.112249	0.64402	D	0.000014	D	0.95771	0.8624	M	0.77820	2.39	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96006	0.8997	10	0.54805	T	0.06	-10.6364	16.2705	0.82616	0.0:1.0:0.0:0.0	.	434;489	F8W7I9;P46060	.;RAGP1_HUMAN	T	489;489;489;489;434	ENSP00000385866:A489T;ENSP00000348577:A489T;ENSP00000401470:A489T;ENSP00000385354:A434T	ENSP00000348577:A489T	A	-	1	0	RANGAP1	39976975	0.990000	0.36364	0.526000	0.27913	0.875000	0.50365	2.947000	0.49058	2.084000	0.62774	0.555000	0.69702	GCA		0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		7	352	0	0	0	1	0	7	352					T	41647029	C	T	41647029	3	4	44	1	0	0	0	0	1	0	0	0	13083	739	26	2	314	2	RANGAP1	22	41647029	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	9827681	41647029	9657537	166	5227											
TCF20	6942	broad.mit.edu	37	chr22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggccacttagttgccGcactctctcgccttgatcct	8	16	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1603-1605)Cgg>Tgg		transcription factor 20 (AR1)							138	140	139					22																	42609709		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609709G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1603C>T	22.37:g.42609709G>A	ENSP00000352463:p.Arg535Trp					TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1739	-			535					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1603C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657916	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.38401	1.14;1.14	6.17	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.38200	-0.9672	10	0.56958	D	0.05	-23.6904	13.0614	0.59010	0.0:0.0:0.2872:0.7128	.	535;535	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	535	ENSP00000352463:R535W;ENSP00000335561:R535W	ENSP00000335561:R535W	R	-	1	2	TCF20	40939653	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.364000	0.44187	0.574000	0.29417	0.655000	0.94253	CGG		0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		6	1070	0	0	0	1	0	6	1070					A	42609709	G	A	42609709	3	1	44	1	0	0	0	0	1	0	0	0	15742	1086	38	1	4317	1	TCF20	22	42609709	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	962680	42609709	8694857	167	5228											
SLC25A6	293	broad.mit.edu	37	chrX	1508553	1508553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgctccttggggatgCggacaatgcagtccacgatg	13	13	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	60					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(178-180)cGc>cAc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						189	169	176					X																	1508553		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508553C>T	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.179G>A	X.37:g.1508553C>T	ENSP00000370808:p.Arg60His					SLC25A6_ENST00000475167.1_5'UTR	p.R60H	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	893	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	60					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.179G>A	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779028	0.31502	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.79653	-1.29	1.69	0.758	0.18432	Mitochondrial carrier domain (2);	0.119084	0.30850	U	0.008748	T	0.75838	0.3904	M	0.74546	2.27	0.09310	N	1	P	0.48503	0.911	B	0.40534	0.332	T	0.69124	-0.5228	10	0.72032	D	0.01	.	8.0252	0.30434	0.0:0.8621:0.0:0.1379	.	60	P12236	ADT3_HUMAN	H	60	ENSP00000370808:R60H	ENSP00000370808:R60H	R	-	2	0	SLC25A6	1468553	0.998000	0.40836	0.656000	0.29637	0.231000	0.25187	5.923000	0.70045	0.027000	0.15297	0.165000	0.16767	CGC		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		5	479	0	0	0	1	0	5	479					T	1508553	C	T	1508553	3	4	44	1	0	0	0	0	1	0	0	0	14563	768	27	1	729	1	SLC25A6	23	1508553	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		1508553	153762007	168	5229											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	341						7	341	---	---	---	---	-	54011407	CTC	-	54011405	7	5	44	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-F2-A8YN-01A-11D-A377-08	52502852	54011405	101259155	169	5230											
FAM104B	90736	broad.mit.edu	37	chrX	55172586	55172586	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtctggttgatatgGgagtaaagaccttggcatgg	14	5	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:55172586G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000425133.2_Silent_p.S94S|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Silent_p.S92S			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478																																						ENST00000425133.2																			1	Substitution - coding silent(1)	p.S94S(1)	endometrium(1)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(280-282)tcC>tcT		family with sequence similarity 104, member B							78	66	70					X																	55172586		2203	4297	6500	SO:0001627	intron_variant	90736							g.chrX:55172586G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+27C>T	X.37:g.55172586G>A						FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	p.S94S	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	320	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	ENST00000358460.4	37	c.282C>T	CCDS35305.2																																																																																				0.478	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	181	0	0	0	1	0	4	181					A	55172586	G	A	55172586	1	1	44	0	1	0	0	0	0	0	0	0	5407	1219	43	2		2	FAM104B	23	55172586	Intron	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1161181	55172586	100097974	170	5231											
IRS4	8471	broad.mit.edu	37	chrX	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtaataaaagaaagtcGgttaggtctcttagctttat	8	4	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	891					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAAAGTCGGTTAGGTCTC	0.443																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2671-2673)Cga>Tga		insulin receptor substrate 4							177	180	179					X																	107976904		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976904G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2671C>T	X.37:g.107976904G>A	ENSP00000361202:p.Arg891*						p.R891*	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2747	-			891						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.2671C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715445	0.89112	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.2	0.841	0.18918	.	1.187410	0.06301	N	0.701010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1902	9.9723	0.41761	0.0:0.0905:0.3551:0.5544	.	.	.	.	X	891	.	ENSP00000361202:R891X	R	-	1	2	IRS4	107863560	0.027000	0.19231	0.001000	0.08648	0.010000	0.07245	0.452000	0.21795	0.138000	0.18790	-0.324000	0.08512	CGA		0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	696	0	0	0	1	0	8	696					A	107976904	G	A	107976904	4	1	44	1	0	0	0	0	0	1	0	0	7872	1124	39	1	1106	1	IRS4	23	107976904	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	52804318	107976904	47293656	171	5232											
HTR2C	3358	broad.mit.edu	37	chrX	114141599	114141599	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttttcattaccaatattcTgtctgttctttgtgagaagt	6	6	4	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	333					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(997-999)cTg>cAg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						193	174	180					X																	114141599		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141599T>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.998T>A	X.37:g.114141599T>A	ENSP00000276198:p.Leu333Gln					HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q|HTR2C_ENST00000371950.3_3'UTR	p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1726	+			333					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.998T>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547060	0.45383	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.389101	0.26089	N	0.026406	T	0.69904	0.3163	M	0.93720	3.45	0.80722	D	1	D	0.58620	0.983	D	0.63703	0.917	T	0.77851	-0.2434	10	0.72032	D	0.01	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	333	P28335	5HT2C_HUMAN	Q	333	ENSP00000276198:L333Q;ENSP00000361019:L333Q	ENSP00000276198:L333Q	L	+	2	0	HTR2C	114047855	1.000000	0.71417	0.996000	0.52242	0.595000	0.36748	5.039000	0.64185	1.827000	0.53221	0.381000	0.24937	CTG		0.383	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		144	264	0	0	0	1	0	144	264					A	114141599	T	A	114141599	3	1	44	1	0	0	0	0	1	0	0	0	7473	1580	55	5	1012	5	HTR2C	23	114141599	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	6164695	114141599	41128961	172	5233											
CT45A5	441521	broad.mit.edu	37	chrX	134947460	134947461	+	Frame_Shift_Ins	INS	-	-	A													gcttccttgatgatggattcINSaaaaaatcgtttcctgactg							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:134947460_134947461insA	ENST00000463085.2	-	4	575_576	c.486_487insT	c.(484-489)tttgaafs	p.E163fs	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Frame_Shift_Ins_p.E163fs|CT45A5_ENST00000370724.3_Frame_Shift_Ins_p.E163fs			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	163										endometrium(1)|large_intestine(2)|lung(6)	9						ATGATGGATTCAAAAAATCGTT	0.401																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(484-489)ttaatcfs		cancer/testis antigen family 45, member A5																																				SO:0001589	frameshift_variant	441521							g.chrX:134947460_134947461insA	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.487dupT	X.37:g.134947466_134947466dupA	ENSP00000424778:p.Glu163fs					CT45A5_ENST00000491480.1_Frame_Shift_Ins_p.LI162fs|CT45A4_ENST00000420087.2_Intron	p.LI162fs	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			4	730_731	-			162					A8K842|B7ZMC5	Frame_Shift_Ins	INS	ENST00000463085.2	37	c.486_487insT	CCDS35406.1																																																																																				0.401	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		147	126						147	126	---	---	---	---	A	134947461	-	A	134947460	7	5	44	1	0	1	1	0	0	0	0	0	3999	835	29	0	90	0	CT45A5	23	134947460	Frame_Shift_Ins	INS	-	TCGA-F2-A8YN-01A-11D-A377-08	20805861	134947460	20323100	173	5234											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	782						8	782	---	---	---	---	-	140994641	CTC	-	140994639	7	5	44	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-F2-A8YN-01A-11D-A377-08	6047179	140994639	14275921	174	5235											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	886						8	886	---	---	---	---	-	140994846	CCT	-	140994844	7	5	44	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-F2-A8YN-01A-11D-A377-08	205	140994844	14275716	175	5236											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	287	0	0	0	1	0	6	287					A	150156360	G	A	150156360	2	1	44	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	9161516	150156360	5114200	176	5237											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		9	92						9	92	---	---	---	---	-	152087572	GAG	-	152087570	7	5	44	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-F2-A8YN-01A-11D-A377-08	1931210	152087570	3182990	177	5238											
DKC1	1736	broad.mit.edu	37	chrX	154001414	154001414	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatgcctgtagctattgcaTtaatgaccacagcggtcatc	8	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	349	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTATTGCATTAATGACCAC	0.408									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1045-1047)Tta>Ata		dyskeratosis congenita 1, dyskerin							102	95	97					X																	154001414		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154001414T>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1045T>A	X.37:g.154001414T>A	ENSP00000358563:p.Leu349Ile					DKC1_ENST00000475966.1_3'UTR	p.L349I	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			11	1255	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		349			PUA.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1045T>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138074	0.56936	.	.	ENSG00000130826	ENST00000369550	D	0.95342	-3.68	5.7	-1.01	0.10169	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	M	0.87180	2.865	0.44085	D	0.996845	B;B	0.33637	0.42;0.42	B;B	0.36378	0.159;0.223	D	0.86175	0.1602	10	0.26408	T	0.33	-6.4408	10.7852	0.46401	0.0:0.5019:0.0:0.4981	.	349;349	A8MUT5;O60832	.;DKC1_HUMAN	I	349	ENSP00000358563:L349I	ENSP00000358563:L349I	L	+	1	2	DKC1	153654608	0.851000	0.29673	0.004000	0.12327	0.277000	0.26821	1.370000	0.34238	-0.567000	0.06046	-0.323000	0.08544	TTA		0.408	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		20	336	0	0	0	1	0	20	336					A	154001414	T	A	154001414	3	1	44	1	0	0	0	0	1	0	0	0	4558	1490	52	5	1087	5	DKC1	23	154001414	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	1913844	154001414	1269146	178	5239											
CSMD2	114784	broad.mit.edu	37	chr1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagcggaccttgtcacCgaggttgaaggttgaaccct	13	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				ACCTTGTCACCGAGGTTGAAG	0.597																																						ENST00000373381.4																			0				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						c.(592-594)Ggt>Agt		CUB and Sushi multiple domains 2							122	112	116					1																	34401481		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34401481C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.592G>A	1.37:g.34401481C>T	ENSP00000362479:p.Gly198Ser						p.G198S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			4	768	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	158			Sushi 1.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	CSMD2	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		66	520	0	0	0	1	0	66	520					T	34401481	C	T	34401481	3	4	45	1	0	0	0	0	1	0	0	0	3956	652	23	1	10255	1	CSMD2	1	34401481	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		34401481	214849140	1	5240											
NCDN	23154	broad.mit.edu	37	chr1	36029011	36029011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaacctcgtggtcaccGcaccggggctgatcaagtga	11	14	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:36029011G>A	ENST00000373243.2	+	5	1977	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	NCDN_ENST00000356090.4_Missense_Mutation_p.A532T|NCDN_ENST00000373253.3_Missense_Mutation_p.A515T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	532					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGTGGTCACCGCACCGGGGCT	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1594-1596)Gca>Aca		neurochondrin							60	60	60					1																	36029011		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029011G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1594G>A	1.37:g.36029011G>A	ENSP00000362340:p.Ala532Thr					NCDN_ENST00000356090.4_Missense_Mutation_p.A532T|NCDN_ENST00000373253.3_Missense_Mutation_p.A515T	p.A532T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1977	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	532					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1594G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462772	0.84425	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.7	3.79	0.43588	.	0.063428	0.64402	D	0.000009	T	0.46190	0.1380	L	0.36672	1.1	0.42919	D	0.994287	D	0.57257	0.979	P	0.45913	0.497	T	0.46442	-0.9191	9	0.52906	T	0.07	.	11.7453	0.51817	0.0861:0.0:0.9139:0.0	.	532	Q9UBB6	NCDN_HUMAN	T	515;532;532	.	ENSP00000348394:A532T	A	+	1	0	NCDN	35801598	1.000000	0.71417	0.927000	0.36925	0.983000	0.72400	7.036000	0.76524	0.969000	0.38237	0.455000	0.32223	GCA		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		6	476	0	0	0	1	0	6	476					A	36029011	G	A	36029011	3	1	45	1	0	0	0	0	1	0	0	0	10256	1087	38	1	1612	1	NCDN	1	36029011	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1627530	36029011	213221610	2	5241											
PTPRF	5792	broad.mit.edu	37	chr1	44069850	44069850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcccggaccatgccGgtggagcaaggtgtgtgctg	15	11	0	0	rs570067770		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		22254	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4																			1	Substitution - coding silent(1)	p.P999P(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3025-3027)ccG>ccA		protein tyrosine phosphatase, receptor type, F							63	59	60					1																	44069850		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069850G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3027G>A	1.37:g.44069850G>A						PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000496447.1_3'UTR	p.P1009P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			16	3367	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3027G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	304	0	0	0	1	0	5	304					A	44069850	G	A	44069850	2	1	45	1	0	0	0	0	0	0	0	1	12851	1103	39	1		1	PTPRF	1	44069850	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	8040839	44069850	205180771	3	5242											
IPO13	9670	broad.mit.edu	37	chr1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-													cacttcttcctgtgccttcaGgtggtggtggtgctgcagca							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_2030delGGT	c.(2026-2031)ccggtg>ccg	p.V680del		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	680					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e12-1		importin 13																																				SO:0001630	splice_region_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425920_44425922delGGT	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2029-1GGT>-	1.37:g.44425929_44425931delGGT							p.P676_splice	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2690_2692	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	676					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Splice_Site	DEL	ENST00000372343.3	37	c.2028_splice	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	In_Frame_Del	7	1436						7	1436	---	---	---	---	-	44425922	GGT	-	44425920	8	5	45	1	0	1	0	1	0	0	1	0	7824	1014	35	0	2074	0	IPO13	1	44425920	Splice_Site	DEL	GGT	TCGA-FB-A5VM-01A-11D-A32N-08	356070	44425920	204824701	4	5243											
SLC6A9	6536	broad.mit.edu	37	chr1	44468264	44468264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagggtcactccgcGgacaaacagaatggtcagca	10	14	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44468264G>A	ENST00000360584.2	-	7	1188	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R260C	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	333					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCACTCCGCGGACAAACAGA	0.602																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(778-780)Cgc>Tgc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						115	115	115					1																	44468264		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44468264G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.997C>T	1.37:g.44468264G>A	ENSP00000353791:p.Arg333Cys					SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C	p.R260C	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			7	943	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	333					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.778C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562952	0.86335	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.72	4.72	0.59763	.	0.050612	0.85682	D	0.000000	D	0.92051	0.7481	H	0.96547	3.84	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	0.91635	0.973;0.998;0.999;0.999;0.999;0.987	D	0.94474	0.7687	10	0.87932	D	0	.	18.2306	0.89934	0.0:0.0:1.0:0.0	.	264;260;195;260;279;333	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	C	195;260;260;149;333;279;195	ENSP00000361381:R195C;ENSP00000361380:R260C;ENSP00000361384:R260C;ENSP00000434460:R149C;ENSP00000353791:R333C;ENSP00000350362:R279C;ENSP00000442523:R195C	ENSP00000350362:R279C	R	-	1	0	SLC6A9	44240851	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.069000	0.71209	2.590000	0.87494	0.561000	0.74099	CGC		0.602	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		5	526	0	0	0	1	0	5	526					A	44468264	G	A	44468264	3	1	45	1	0	0	0	0	1	0	0	0	14741	1116	39	1	1155	1	SLC6A9	1	44468264	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	42344	44468264	204782357	5	5244											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		17	326						17	326	---	---	---	---	-	46184898	AC	-	46184897	7	5	45	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-FB-A5VM-01A-11D-A32N-08	1716633	46184897	203065724	6	5245											
RAD54L	8438	broad.mit.edu	37	chr1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcggtgacccgaagccGtagcagtgacaaagtagtgc	14	10	1	2	rs372456315		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1531-1533)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	70	75	73		1532,1532	3	0.9	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_003579.3,NM_001142548.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	511/748,511/748	46739341	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739341G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1532G>A	1.37:g.46739341G>A	ENSP00000361043:p.Arg511His					RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H|RAD54L_ENST00000488942.1_3'UTR	p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2206	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	511			Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1532G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	RAD54L	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT		0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		4	159	0	0	0	1	0	4	159					A	46739341	G	A	46739341	3	1	45	1	0	0	0	0	1	0	0	0	13043	1145	40	1	1586	1	RAD54L	1	46739341	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	554444	46739341	202511280	7	5246											
LRRC40	55631	broad.mit.edu	37	chr1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aattgaattcagatgtttaaGatgttctgcctctaacattt	6	6	3	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(853-855)Ctt>Gtt		leucine rich repeat containing 40							119	116	117					1																	70641617		2203	4300	6503	SO:0001583	missense	55631							g.chr1:70641617G>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.853C>G	1.37:g.70641617G>C	ENSP00000359990:p.Leu285Val						p.L285V	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			7	932	-			285					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.853C>G	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	LRRC40	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT		0.348	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		15	229	0	0	0	1	0	15	229					C	70641617	G	C	70641617	3	2	45	1	0	0	0	0	1	0	0	0	9036	942	33	5	991	5	LRRC40	1	70641617	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	23902276	70641617	178609004	8	5247											
NEGR1	257194	broad.mit.edu	37	chr1	71873147	71873147	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttattgtagaatggcattCttcaggtagaatatgctggt	10	4	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000585415.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1045-1047)aaG>aaA		neuronal growth regulator 1							85	85	85					1																	71873147		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:71873147C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1047G>A	1.37:g.71873147C>T						NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K	p.K349K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	7	1286	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	349					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.1047G>A	CCDS661.1																																																																																				0.428	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		29	176	0	0	0	1	0	29	176					T	71873147	C	T	71873147	2	4	45	1	0	0	0	0	0	0	0	1	10359	912	32	2		2	NEGR1	1	71873147	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	1231530	71873147	177377474	9	5248											
INTS3	65123	broad.mit.edu	37	chr1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgccatggctgtttacaCgtacctccgcctcatcgtgg	9	14	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	212					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(13-15)aCg>aTg		integrator complex subunit 3							142	109	120					1																	153723618		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153723618C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.632C>T	1.37:g.153723618C>T	ENSP00000318641:p.Thr211Met					RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|INTS3_ENST00000476843.1_3'UTR	p.T5M			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1200	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		212					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.14C>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	INTS3	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG		0.567	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		12	154	0	0	0	1	0	12	154					T	153723618	C	T	153723618	3	4	45	1	0	0	0	0	1	0	0	0	7809	536	19	1	658	1	INTS3	1	153723618	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	81850471	153723618	95527003	10	5249											
RAB25	57111	broad.mit.edu	37	chr1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatcgtggtgcagtggggGccctcctggtgtttgaccta	14	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(262-264)Gcc>Acc		RAB25, member RAS oncogene family							109	106	107					1																	156038083		2113	4264	6377	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038083G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.262G>A	1.37:g.156038083G>A	ENSP00000354376:p.Ala88Thr					RAB25_ENST00000487325.1_3'UTR	p.A88T	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	503	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		88					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.262G>A	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	RAB25	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC		0.557	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			96	498	0	0	0	1	0	96	498					A	156038083	G	A	156038083	3	1	45	1	0	0	0	0	1	0	0	0	12962	1203	42	2	272	2	RAB25	1	156038083	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2314465	156038083	93212538	11	5250											
PEX19	5824	broad.mit.edu	37	chr1	160250012	160250012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggaggtagagattcccGatgactctgcaaccattctg	10	11	3	2	rs367813991		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:160250012G>A	ENST00000368072.5	-	6	640	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	207					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGATTCCCGATGACTCTGC	0.428																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(619-621)Cgg>Tgg		peroxisomal biogenesis factor 19							144	143	143					1																	160250012		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160250012G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.619C>T	1.37:g.160250012G>A	ENSP00000357051:p.Arg207Trp					DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W	p.R207W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	640	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.619C>T	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976964|3.976964	0.74360|0.74360	.|.	.|.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735|ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220|ENST00000495624	T;T|.	0.65549|.	-0.16;-0.16|.	5.66|5.66	4.69|4.69	0.59074|0.59074	.|.	0.360515|.	0.28052|.	N|.	0.016795|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.42245|0.42245	1.32|1.32	0.43025|0.43025	D|D	0.994581|0.994581	D;P|.	0.89917|.	1.0;0.953|.	P;B|.	0.59948|.	0.866;0.426|.	T|T	0.59726|0.59726	-0.7400|-0.7400	10|6	0.87932|0.87932	D|D	0|0	0.0173|0.0173	15.029|15.029	0.71691|0.71691	0.0:0.143:0.857:0.0|0.0:0.143:0.857:0.0	.|.	60;207|.	G3V3G9;P40855|.	.;PEX19_HUMAN|.	W|L	60;60;77;207;187;117;187|44	ENSP00000451989:R60W;ENSP00000451235:R60W|.	ENSP00000357051:R207W|ENSP00000435896:S158L	R|S	-|-	1|2	2|0	RP11-574F21.3;PEX19;DCAF8|PEX19	158516636|158516636	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.994000|0.994000	0.84299|0.84299	3.142000|3.142000	0.50601|0.50601	2.665000|2.665000	0.90641|0.90641	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.428	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		7	646	0	0	0	1	0	7	646					A	160250012	G	A	160250012	3	1	45	1	0	0	0	0	1	0	0	0	11786	1057	37	1	292	1	PEX19	1	160250012	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4211929	160250012	89000609	12	5251											
OLFML2B	25903	broad.mit.edu	37	chr1	161953822	161953822	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatcgtccagggccgggtaGatgagccataggccattctc	12	12	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)atC>atT		olfactomedin-like 2B							71	62	65					1																	161953822		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953822G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1896C>T	1.37:g.161953822G>A						OLFML2B_ENST00000367938.1_Silent_p.I115I|OLFML2B_ENST00000367940.2_Silent_p.I633I	p.I632I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2319	-	all_hematologic(112;0.156)		632			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1896C>T	CCDS1236.1																																																																																				0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		50	262	0	0	0	1	0	50	262					A	161953822	G	A	161953822	2	1	45	1	0	0	0	0	0	0	0	1	10900	932	33	2		2	OLFML2B	1	161953822	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1703810	161953822	87296799	13	5252											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		5	223	0	0	0	1	0	5	223					A	162769603	G	A	162769603	3	1	45	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	815781	162769603	86481018	14	5253											
F5	2153	broad.mit.edu	37	chr1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtttgtctggctgaAgtctagagaaagggttgtat	15	3	2	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220	242	235					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	1475	0	0	0	1	0	9	1475					G	169510463	A	G	169510463	3	3	45	1	0	0	0	0	1	0	0	0	5366	72	3	4	2861	4	F5	1	169510463	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	6740860	169510463	79740158	15	5254											
PLA2G4A	5321	broad.mit.edu	37	chr1	186916023	186916023	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggggcagtgccttttcCatattgttcaacagagtttt	10	8	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGCCTTTTCCATATTGTTCA	0.358																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1192-1194)tcC>tcA		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						151	148	149					1																	186916023		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186916023C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1194C>A	1.37:g.186916023C>A						PLA2G4A_ENST00000442353.2_Silent_p.S338S	p.S398S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			12	1346	+			398			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1194C>A	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		45	367	1	0	6.87076e-12	1	7.47513e-12	45	367					A	186916023	C	A	186916023	2	1	45	1	0	0	0	0	0	0	0	1	12043	581	21	3		3	PLA2G4A	1	186916023	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	17405560	186916023	62334598	16	5255											
B3GALT2	8707	broad.mit.edu	37	chr1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggcttcagtaacttatTgattaaatattcagtgttga	7	5	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	264					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGTAACTTATTGATTAAATAT	0.388																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(790-792)Aat>Gat		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							106	101	103					1																	193149903		2203	4299	6502	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149903T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.790A>G	1.37:g.193149903T>C	ENSP00000356404:p.Asn264Asp					CDC73_ENST00000367435.3_Intron	p.N264D	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1545	-			264					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.790A>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985401	0.35036	.	.	ENSG00000162630	ENST00000367434	T	0.42513	0.97	5.42	4.5	0.54988	.	0.104621	0.64402	D	0.000003	T	0.24470	0.0593	N	0.04297	-0.235	0.25600	N	0.98661	B	0.14012	0.009	B	0.24848	0.056	T	0.13953	-1.0490	10	0.24483	T	0.36	.	15.5666	0.76298	0.0:0.0:0.8593:0.1407	.	264	O43825	B3GT2_HUMAN	D	264	ENSP00000356404:N264D	ENSP00000356404:N264D	N	-	1	0	B3GALT2	191416526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.987000	0.49378	1.266000	0.44231	-0.173000	0.13275	AAT		0.388	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		5	227	0	0	0	1	0	5	227					C	193149903	T	C	193149903	3	2	45	1	0	0	0	0	1	0	0	0	1249	1812	63	4	482	4	B3GALT2	1	193149903	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	6233880	193149903	56100718	17	5256											
SYT2	127833	broad.mit.edu	37	chr1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-													ctttgcccttctccttcttgTtcttcttcttcttgcagcag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_ENST00000367268.4_In_Frame_Del_p.K93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		7	545						7	545	---	---	---	---	-	202573649	TTC	-	202573647	7	5	45	1	0	1	0	1	0	0	0	0	15526	1725	60	0	1006	0	SYT2	1	202573647	In_Frame_Del	DEL	TTC	TCGA-FB-A5VM-01A-11D-A32N-08	9423744	202573647	46676974	18	5257											
PLXNA2	5362	broad.mit.edu	37	chr1	208257827	208257827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatagcctcgctggccGgactgcggctggggcagatt	14	13	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:208257827G>A	ENST00000367033.3	-	10	2953	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	732					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCGCTGGCCGGACTGCGGCT	0.592																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2194-2196)tcC>tcT		plexin A2							79	82	81					1																	208257827		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257827G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2196C>T	1.37:g.208257827G>A							p.S732S	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	2953	-			732					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.2196C>T	CCDS31013.1																																																																																				0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	484	0	0	0	1	0	6	484					A	208257827	G	A	208257827	2	1	45	1	0	0	0	0	0	0	0	1	12162	1103	39	1		1	PLXNA2	1	208257827	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5684180	208257827	40992794	19	5258											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	421						7	421	---	---	---	---	-	26693556	CTT	-	26693554	7	5	45	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FB-A5VM-01A-11D-A32N-08		26693554	216505819	20	5259											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134	134	134					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	508						7	508	---	---	---	---	-	39213243	T	-	39213243	7	5	45	1	0	1	0	1	0	0	0	0	14986	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	12519689	39213243	203986130	21	5260											
HTRA2	27429	broad.mit.edu	37	chr2	74758082	74758082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgctcagctgatgtccgGcaaggggagtttgttgttgc	16	8	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:74758082G>A	ENST00000258080.3	+	3	1386	c.756G>A	c.(754-756)cgG>cgA	p.R252R	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	252	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CTGATGTCCGGCAAGGGGAGT	0.552																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(754-756)cgG>cgA		HtrA serine peptidase 2							190	196	194					2																	74758082		2203	4300	6503	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74758082G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.756G>A	2.37:g.74758082G>A						HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	p.R252R	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			3	1386	+			252			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.756G>A	CCDS1951.1																																																																																				0.552	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		7	1223	0	0	0	1	0	7	1223					A	74758082	G	A	74758082	2	1	45	1	0	0	0	0	0	0	0	1	7484	1190	42	2		2	HTRA2	2	74758082	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	35544839	74758082	168441291	22	5261											
RANBP2	5903	broad.mit.edu	37	chr2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-													atggaggaagtgcccatgggGatgatgatgatgacggtcct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	560						7	560	---	---	---	---	-	109380487	GAT	-	109380485	7	5	45	1	0	1	0	1	0	0	0	0	13078	1174	41	0	3568	0	RANBP2	2	109380485	In_Frame_Del	DEL	GAT	TCGA-FB-A5VM-01A-11D-A32N-08	34622403	109380485	133818888	23	5262											
ACOXL	55289	broad.mit.edu	37	chr2	111556628	111556628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtccgggatgaaaaCggaagcttgtacccaggagt	13	9	0	1	rs200491300		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(496-498)aaC>aaT		acyl-CoA oxidase-like		C		0,4406		0,0,2203	165	139	148		498	-10.7	0.1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		166/581	111556628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556628C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.498C>T	2.37:g.111556628C>T						ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N	p.N166N			Q9NUZ1	ACOXL_HUMAN			7	722	+			166					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.498C>T		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	ACOXL	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG		0.502	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		71	455	0	0	0	1	0	71	455					T	111556628	C	T	111556628	2	4	45	1	0	0	0	0	0	0	0	1	161	535	19	1		1	ACOXL	2	111556628	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2176143	111556628	131642745	24	5263											
YSK4	80122	broad.mit.edu	37	chr2	135745297	135745297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatactatttctggatctTgttcatagtttttggctact	6	7	3	0	rs138047676		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:135745297T>C	ENST00000375845.3	-	7	1175	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	382							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCTGGATCTTGTTCATAGTT	0.373																																						ENST00000375845.3																			0											c.(1144-1146)cAa>cGa		mitogen-activated protein kinase kinase kinase 19		T	,ARG/GLN	0,4406		0,0,2203	80	78	79		,1145	2.4	0	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,benign	,382/1329	135745297	1,13005	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135745297T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1145A>G	2.37:g.135745297T>C	ENSP00000365005:p.Gln382Arg					MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000315513.3_5'UTR	p.Q382R	NM_025052.3	NP_079328.3					7	1175	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1145A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.220	0.226143	0.09916	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71579	-0.58;-0.56;1.77	4.87	2.43	0.29744	.	0.173300	0.27797	N	0.017810	T	0.53449	0.1797	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.24721	0.023;0.11;0.006	B;B;B	0.23419	0.01;0.046;0.003	T	0.43750	-0.9372	10	0.45353	T	0.12	.	4.2146	0.10528	0.1483:0.1641:0.0:0.6876	.	269;399;382	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	R	382;269;399	ENSP00000365005:Q382R;ENSP00000351140:Q269R;ENSP00000376647:Q399R	ENSP00000351140:Q269R	Q	-	2	0	YSK4	135461767	0.002000	0.14202	0.008000	0.14137	0.243000	0.25628	0.664000	0.25068	0.326000	0.23384	0.528000	0.53228	CAA		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		46	271	0	0	0	1	0	46	271					C	135745297	T	C	135745297	3	2	45	1	0	0	0	0	1	0	0	0	17549	1812	63	4	2857	4	YSK4	2	135745297	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	24188669	135745297	107454076	25	5264											
GPD2	2820	broad.mit.edu	37	chr2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattagcctactgccttcaGacattgacaggtacttataa	6	9	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(1870-1872)Gac>Tac		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							117	119	118					2																	157435503		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157435503G>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1870G>T	2.37:g.157435503G>T	ENSP00000308610:p.Asp624Tyr					GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			14	2242	+			624			EF-hand 1.		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1870G>T	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	GPD2	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC		0.333	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			35	400	1	0	2.47316e-13	1	2.70322e-13	35	400					T	157435503	G	T	157435503	3	4	45	1	0	0	0	0	1	0	0	0	6635	942	33	3	1920	3	GPD2	2	157435503	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	21690206	157435503	85763870	26	5265											
SCN3A	6328	broad.mit.edu	37	chr2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgttaacatcactaatgtCaaacatgttacccgttgtca	5	9	3	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACTAATGTCAAACATGTTA	0.423																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4120-4122)Gac>Tac		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						140	122	128					2																	165953881		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953881C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4120G>T	2.37:g.165953881C>A	ENSP00000353206:p.Asp1374Tyr					SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			23	4611	-			1374					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4120G>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	SCN3A	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC		0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	247	1	0	1.30998e-17	1	1.4521e-17	39	247					A	165953881	C	A	165953881	3	1	45	1	0	0	0	0	1	0	0	0	13968	826	29	3	1906	3	SCN3A	2	165953881	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	8518378	165953881	77245492	27	5266											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(31-33)gggfs	p.G11fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	11					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)			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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-33)ggggggfs		RNA binding motif protein 45																																				SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977303_178977304insG	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.35dupG	2.37:g.178977308_178977308dupG	ENSP00000286070:p.Gly11fs		OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1950		p.GG10fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	122_123	+			10					Q6NYL0|Q8NFC9	Frame_Shift_Ins	INS	ENST00000286070.5	37	c.30_31insG	CCDS33335.1																																																																																				0.644	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		8	364						8	364	---	---	---	---	G	178977304	-	G	178977303	7	5	45	1	0	1	1	0	0	0	0	0	13189	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	13023422	178977303	64222070	28	5267											
BCS1L	617	broad.mit.edu	37	chr2	219525979	219525979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagcatgagagtggccGcatttccactaagtttgaat	9	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:219525979G>A	ENST00000431802.1	+	2	968	c.269G>A	c.(268-270)cGc>cAc	p.R90H	BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAGTGGCCGCATTTCCACT	0.527																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)cGc>cAc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							116	121	120					2																	219525979		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525979G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.269G>A	2.37:g.219525979G>A	ENSP00000413908:p.Arg90His					BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H	p.R90H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	968	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.269G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161282	0.38119	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-2.37;-2.37;-2.37;-3.09;-2.37;-2.37;-2.37;-2.37	5.6	1.81	0.25067	BCS1, N-terminal (1);	0.121283	0.56097	N	0.000032	D	0.91643	0.7359	L	0.31752	0.955	0.49130	D	0.999751	B	0.14012	0.009	B	0.13407	0.009	D	0.85215	0.1023	10	0.42905	T	0.14	-10.8847	10.5413	0.45035	0.2629:0.0:0.7371:0.0	.	90	Q9Y276	BCS1_HUMAN	H	90	ENSP00000398957:R90H;ENSP00000395440:R90H;ENSP00000352219:R90H;ENSP00000375957:R90H;ENSP00000375958:R90H;ENSP00000397293:R90H;ENSP00000375959:R90H;ENSP00000406494:R90H;ENSP00000404999:R90H;ENSP00000413908:R90H	ENSP00000352219:R90H	R	+	2	0	BCS1L	219234223	1.000000	0.71417	0.851000	0.33527	0.981000	0.71138	5.463000	0.66712	0.332000	0.23536	-0.136000	0.14681	CGC		0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		6	727	0	0	0	1	0	6	727					A	219525979	G	A	219525979	3	1	45	1	0	0	0	0	1	0	0	0	1390	1087	38	1	271	1	BCS1L	2	219525979	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	40548676	219525979	23673394	29	5268											
KLHL30	377007	broad.mit.edu	37	chr2	239049668	239049668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaactggtggacttcgtGtacacaggccggctgaccat	13	11	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:239049668G>A	ENST00000409223.1	+	2	380	c.273G>A	c.(271-273)gtG>gtA	p.V91V	KLHL30_ENST00000305959.4_Silent_p.V73V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACTTCGTGTACACAGGCC	0.672																																						ENST00000409223.1																			0				lung(4)	4						c.(271-273)gtG>gtA		kelch-like family member 30							82	96	92					2																	239049668		2176	4258	6434	SO:0001819	synonymous_variant	377007							g.chr2:239049668G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.273G>A	2.37:g.239049668G>A						KLHL30_ENST00000305959.4_Silent_p.V73V	p.V91V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	380	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	91			BTB.		Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.273G>A	CCDS46555.2																																																																																				0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		6	894	0	0	0	1	0	6	894					A	239049668	G	A	239049668	2	1	45	1	0	0	0	0	0	0	0	1	8414	1364	48	2		2	KLHL30	2	239049668	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	19523689	239049668	4149705	30	5269											
ANKMY1	51281	broad.mit.edu	37	chr2	241468562	241468562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttcattgaggaagatgCgggcgtccagctctttgcgg	14	8	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:241468562C>T	ENST00000272972.3	-	4	792	c.578G>A	c.(577-579)cGc>cAc	p.R193H	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R282H|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R193H|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	193							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAGGAAGATGCGGGCGTCCAG	0.478																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(577-579)cGc>cAc		ankyrin repeat and MYND domain containing 1							150	150	150					2																	241468562		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468562C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.578G>A	2.37:g.241468562C>T	ENSP00000272972:p.Arg193His					ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R193H|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R282H	p.R193H			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	944	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	193					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.578G>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.340001	0.01277	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.79	-7.25	0.01470	.	1.705140	0.03610	N	0.234726	T	0.28665	0.0710	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	10	0.21540	T	0.41	-18.8628	16.8677	0.86033	0.0:0.1398:0.0:0.8602	.	193;193	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	H	193;193;282;193;193	ENSP00000272972:R193H;ENSP00000375847:R193H;ENSP00000385887:R282H;ENSP00000407015:R193H	ENSP00000272972:R193H	R	-	2	0	ANKMY1	241117235	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.273000	0.02823	-1.455000	0.01923	-0.136000	0.14681	CGC		0.478	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		5	538	0	0	0	1	0	5	538					T	241468562	C	T	241468562	3	4	45	1	0	0	0	0	1	0	0	0	634	768	27	1	2303	1	ANKMY1	2	241468562	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2418894	241468562	1730811	31	5270											
SCN10A	6336	broad.mit.edu	37	chr3	38750970	38750970	+	Splice_Site	DEL	T	T	-													actcctgagcaccacttatcTtttttttctgttgattgaag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:38750970delT	ENST00000449082.2	-	24	4279	c.4280delA	c.(4279-4281)aag>ag	p.K1427fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1427					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCACTTATCTTTTTTTTCTG	0.408																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e24+1		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						104	104	104					3																	38750970		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38750970delT	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4281+1A>-	3.37:g.38750970delT							p.K1427_splice	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	24	4279	-			1427					A6NDQ1	Splice_Site	DEL	ENST00000449082.2	37	c.4281_splice	CCDS33736.1																																																																																				0.408	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Frame_Shift_Del	7	432						7	432	---	---	---	---	-	38750970	T	-	38750970	8	5	45	1	0	1	0	1	0	0	1	0	13962	1623	56	0	1606	0	SCN10A	3	38750970	Splice_Site	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08		38750970	159271460	32	5271											
OR5K3	403277	broad.mit.edu	37	chr3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgctatgtggccatAtgcaacccactgcagtacca	8	12	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(376-378)atA>atG		olfactory receptor, family 5, subfamily K, member 3							172	162	165					3																	98109887		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109887A>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.378A>G	3.37:g.98109887A>G	ENSP00000373194:p.Ile126Met					RP11-325B23.2_ENST00000508616.1_lincRNA	p.I126M	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	378	+			126						Missense_Mutation	SNP	ENST00000383695.1	37	c.378A>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	OR5K3	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA		0.478	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			144	498	0	0	0	1	0	144	498					G	98109887	A	G	98109887	3	3	45	1	0	0	0	0	1	0	0	0	11210	439	16	4	380	4	OR5K3	3	98109887	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	59358917	98109887	99912543	33	5272											
ACAD9	28976	broad.mit.edu	37	chr3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggactatccgtacgagcGcatactgcgtgacacccgca	11	13	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)cGc>cAc		acyl-CoA dehydrogenase family, member 9							121	111	115					3																	128625055		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128625055G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1241G>A	3.37:g.128625055G>A	ENSP00000312618:p.Arg414His					ACAD9_ENST00000511526.1_3'UTR	p.R414H	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			12	1322	+			414					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1241G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491866	0.84962	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.66	4.77	0.60923	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.87932	D	0	.	14.2991	0.66334	0.0:0.1497:0.8503:0.0	.	291;414	Q9H9W4;Q9H845	.;ACAD9_HUMAN	H	414;281	ENSP00000312618:R414H	ENSP00000312618:R414H	R	+	2	0	ACAD9	130107745	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.033000	0.93741	1.354000	0.45846	0.655000	0.94253	CGC		0.632	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		7	582	0	0	0	1	0	7	582					A	128625055	G	A	128625055	3	1	45	1	0	0	0	0	1	0	0	0	111	1087	38	1	1287	1	ACAD9	3	128625055	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	30515168	128625055	69397375	34	5273											
AMOTL2	51421	broad.mit.edu	37	chr3	134090033	134090033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaggtggttctcaccGccctggtgctcctggccctg	12	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000422605.2	-	2	409	c.243C>T	c.(241-243)ggC>ggT	p.G81G	AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000513145.1_Silent_p.G81G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(415-417)ggC>ggT		angiomotin like 2							51	44	46					3																	134090033		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134090033G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.243C>T	3.37:g.134090033G>A						AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G	p.G139G	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			2	595	-			81					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.417C>T																																																																																					0.677	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		4	257	0	0	0	1	0	4	257					A	134090033	G	A	134090033	2	1	45	1	0	0	0	0	0	0	0	1	584	1074	38	1		1	AMOTL2	3	134090033	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5464978	134090033	63932397	35	5274											
TRIM42	287015	broad.mit.edu	37	chr3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaactacctgcacgggcGtctcaccaagcgctacatgc	10	15	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.R213H(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(637-639)cGt>cAt		tripartite motif containing 42							74	73	73					3																	140401600		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401600G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.638G>A	3.37:g.140401600G>A	ENSP00000286349:p.Arg213His						p.R213H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	829	+			213					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.638G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT		0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		76	566	0	0	0	1	0	76	566					A	140401600	G	A	140401600	3	1	45	1	0	0	0	0	1	0	0	0	16570	1145	40	1	644	1	TRIM42	3	140401600	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	6311567	140401600	57620830	36	5275											
HES1	3280	broad.mit.edu	37	chr3	193855656	193855656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacctaccccgggcagccGcaccccgccttgcaggcgcc	11	20	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:193855656G>A	ENST00000232424.3	+	4	713	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CCGGGCAGCCGCACCCCGCCT	0.746																																						ENST00000232424.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(475-477)ccG>ccA		hes family bHLH transcription factor 1							22	26	25					3																	193855656		2179	4253	6432	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855656G>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.477G>A	3.37:g.193855656G>A							p.P159P	NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	713	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		159			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.477G>A	CCDS3305.1																																																																																				0.746	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			6	399	0	0	0	1	0	6	399					A	193855656	G	A	193855656	2	1	45	1	0	0	0	0	0	0	0	1	7095	1074	38	1		1	HES1	3	193855656	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	53454056	193855656	4166774	37	5276											
EVC	2121	broad.mit.edu	37	chr4	5798842	5798842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccctggccaccctgacGcagatgcggctatcggggaa	13	14	0	2	rs537471996	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000382674.2_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18527	0.0		0.0	False		,,,				2504	0.0					ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1978-1980)acG>acA		Ellis van Creveld syndrome							42	41	42					4																	5798842		2202	4300	6502	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5798842G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1980G>A	4.37:g.5798842G>A						EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.T660T	p.T660T			P57679	EVC_HUMAN			14	2164	+		Myeloproliferative disorder(84;0.117)	660						Silent	SNP	ENST00000264956.6	37	c.1980G>A	CCDS3383.1																																																																																				0.672	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			41	257	0	0	0	1	0	41	257					A	5798842	G	A	5798842	2	1	45	1	0	0	0	0	0	0	0	1	5303	1074	38	1		1	EVC	4	5798842	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		5798842	185355434	38	5277											
PCDH7	5099	broad.mit.edu	37	chr4	30723222	30723222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacctgggcatcgtgaccGgatcgggtgaggtgactttc	15	10	0	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:30723222G>A	ENST00000361762.2	+	1	1186	c.178G>A	c.(178-180)Gga>Aga	p.G60R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1. {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)			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						CATCGTGACCGGATCGGGTGA	0.677																																						ENST00000361762.2																			0				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						c.(178-180)Gga>Aga		protocadherin 7							56	50	52					4																	30723222		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723222G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.178G>A	4.37:g.30723222G>A	ENSP00000355243:p.Gly60Arg					PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1186	+			60			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.178G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021922	0.54576	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.26660	1.72;1.72	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.37758	0.1015	N	0.24115	0.695	0.42849	D	0.994078	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.68765	0.943;0.96;0.936	T	0.27123	-1.0083	9	0.51188	T	0.08	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	60;60;60	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	60	ENSP00000355243:G60R;ENSP00000441802:G60R	ENSP00000330302:G60R	G	+	1	0	PCDH7	30332320	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.650000	0.98490	2.364000	0.80123	0.305000	0.20034	GGA		0.677	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	230	0	0	0	1	0	4	230					A	30723222	G	A	30723222	3	1	45	1	0	0	0	0	1	0	0	0	11558	1117	39	1	180	1	PCDH7	4	30723222	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	24924380	30723222	160431054	39	5278											
GABRB1	2560	broad.mit.edu	37	chr4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtaccagacacctacTttctgaatgacaagaaatca	7	10	3	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACACCTACTTTCTGAATGA	0.443																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(367-369)Ttt>Ctt		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160	155	157					4																	47163392		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163392T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.367T>C	4.37:g.47163392T>C	ENSP00000295454:p.Phe123Leu					GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	p.F123L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			4	659	+			123					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.367T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	GABRB1	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			71	500	0	0	0	1	0	71	500					C	47163392	T	C	47163392	3	2	45	1	0	0	0	0	1	0	0	0	6193	1609	56	4	381	4	GABRB1	4	47163392	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	16440170	47163392	143990884	40	5279											
LRRC66	339977	broad.mit.edu	37	chr4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcataagtgaacatgcccGgaaactcatcccctaaggga	8	11	2	1	rs543351323	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0051					ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65	67	66					4																	52860732		1885	4114	5999	SO:0001583	missense	339977					integral to membrane		g.chr4:52860732G>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.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu						p.P819L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2462	-			819						Missense_Mutation	SNP	ENST00000343457.3	37	c.2456C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	254	0	0	0	1	0	5	254					A	52860732	G	A	52860732	3	1	45	1	0	0	0	0	1	0	0	0	9056	1116	39	1	190	1	LRRC66	4	52860732	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5697340	52860732	138293544	41	5280											
MTHFD2L	441024	broad.mit.edu	37	chr4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaagaacttttggacGtaactgatcaattgaatatg	9	6	2	3	rs201351553		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	130					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(388-390)Gta>Ata		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							140	136	138					4																	75041057		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75041057G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.388G>A	4.37:g.75041057G>A	ENSP00000379108:p.Val130Ile					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR	p.V130I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	415	+			72					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.388G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	MTHFD2L	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		5	303	0	0	0	1	0	5	303					A	75041057	G	A	75041057	3	1	45	1	0	0	0	0	1	0	0	0	9971	1145	40	1	398	1	MTHFD2L	4	75041057	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	22180325	75041057	116113219	42	5281											
IBSP	3381	broad.mit.edu	37	chr4	88732603	88732603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgaaaacgaagaaagCgaagcagaagtggatgaaaa	13	3	0	4	rs200405481		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																						ENST00000226284.5																			1	Substitution - coding silent(1)	p.S165S(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(493-495)agC>agT		integrin-binding sialoprotein							137	127	131					4																	88732603		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732603C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	4.37:g.88732603C>T							p.S165S	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	562	+		Hepatocellular(203;0.114)	165			Asp/Glu-rich (acidic).			Silent	SNP	ENST00000226284.5	37	c.495C>T	CCDS3624.1																																																																																				0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			16	105	0	0	0	1	0	16	105					T	88732603	C	T	88732603	2	4	45	1	0	0	0	0	0	0	0	1	7505	767	27	1		1	IBSP	4	88732603	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	13691546	88732603	102421673	43	5282											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	288						8	288	---	---	---	---	-	146077125	CAG	-	146077123	7	5	45	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-FB-A5VM-01A-11D-A32N-08	57344520	146077123	45077153	44	5283											
KIAA0922	23240	broad.mit.edu	37	chr4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagtttacctgctgcccaGagagaggcaggtatgtaatg	13	8	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3847-3849)caG>caT		KIAA0922							104	99	101					4																	154542991		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542991G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3846G>T	4.37:g.154542991G>T	ENSP00000386574:p.Gln1282His					KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409663.3_Missense_Mutation_p.Q1282H	p.Q1283H	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			28	3898	+	all_hematologic(180;0.093)	Renal(120;0.118)	1282					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3849G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	KIAA0922	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		21	154	1	0	2.89027e-11	1	3.11566e-11	21	154					T	154542991	G	T	154542991	3	4	45	1	0	0	0	0	1	0	0	0	8231	933	33	3	3959	3	KIAA0922	4	154542991	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	8465868	154542991	36611285	45	5284											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactctgaagctctgcaAcagtcagaaatgtccccggg	10	13	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						AAGCTCTGCAACAGTCAGAAA	0.502																																						ENST00000274181.7																			0				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						c.(1906-1908)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							72	76	75					5																	5235183		1942	4134	6076	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235183A>G	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.1907A>G	5.37:g.5235183A>G	ENSP00000274181:p.Asn636Ser					ADAMTS16_ENST00000513709.1_3'UTR	p.N636S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2045	+			636			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1907A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	ADAMTS16	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		39	392	0	0	0	1	0	39	392					G	5235183	A	G	5235183	3	3	45	1	0	0	0	0	1	0	0	0	261	43	2	4	1957	4	ADAMTS16	5	5235183	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08		5235183	175680077	46	5285											
FAM105A	54491	broad.mit.edu	37	chr5	14610393	14610393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccctgctgaccgagaaCgaccgccactaccacattcc	6	18	1	2	rs200729060	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347	OTU.							p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15262	0.0		0.001	False		,,,				2504	0.001					ENST00000274217.3																			1	Substitution - coding silent(1)	p.N347N(1)	lung(1)	large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1039-1041)aaC>aaT		family with sequence similarity 105, member A							45	48	47					5																	14610393		2203	4300	6503	SO:0001819	synonymous_variant	54491							g.chr5:14610393C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	5.37:g.14610393C>T							p.N347N	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			8	1161	+	Lung NSC(4;0.00592)		347					Q53H50|Q9H037	Silent	SNP	ENST00000274217.3	37	c.1041C>T	CCDS3884.1																																																																																				0.532	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		36	385	0	0	0	1	0	36	385					T	14610393	C	T	14610393	2	4	45	1	0	0	0	0	0	0	0	1	5408	535	19	1		1	FAM105A	5	14610393	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	9375210	14610393	166304867	47	5286											
FYB	2533	broad.mit.edu	37	chr5	39202291	39202291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaccactccaggaaaggGcaaacttgaaatctcccctg	7	13	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:39202291G>A	ENST00000351578.6	-	2	962	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	FYB_ENST00000540520.1_Missense_Mutation_p.P268S|FYB_ENST00000512982.1_Missense_Mutation_p.P258S|FYB_ENST00000505428.1_Missense_Mutation_p.P258S|FYB_ENST00000515010.1_Missense_Mutation_p.P258S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	258					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)			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)			CCAGGAAAGGGCAAACTTGAA	0.502																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(772-774)Ccc>Tcc		FYN binding protein							111	108	109					5																	39202291		1830	4092	5922	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.chr5:39202291G>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.772C>T	5.37:g.39202291G>A	ENSP00000316460:p.Pro258Ser					FYB_ENST00000505428.1_Missense_Mutation_p.P258S|FYB_ENST00000540520.1_Missense_Mutation_p.P268S|FYB_ENST00000515010.1_Missense_Mutation_p.P258S|FYB_ENST00000512982.1_Missense_Mutation_p.P258S	p.P258S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	962	-	all_lung(31;0.000343)		258					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.772C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985390	0.35036	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25414	1.8;1.8;1.81;1.81;1.84	6.07	4.26	0.50523	.	0.376295	0.29133	N	0.013049	T	0.44685	0.1305	M	0.70595	2.14	0.29578	N	0.849382	D;B	0.89917	1.0;0.144	D;B	0.83275	0.996;0.022	T	0.42515	-0.9447	10	0.54805	T	0.06	-3.452	6.3798	0.21527	0.0636:0.1136:0.5911:0.2318	.	268;258	B4DLN2;O15117	.;FYB_HUMAN	S	258;258;258;258;268;258	ENSP00000316460:P258S;ENSP00000426346:P258S;ENSP00000425845:P258S;ENSP00000427114:P258S;ENSP00000442840:P268S	ENSP00000316460:P258S	P	-	1	0	FYB	39238048	0.913000	0.31002	0.578000	0.28575	0.201000	0.24016	1.356000	0.34079	1.562000	0.49601	0.655000	0.94253	CCC		0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		6	783	0	0	0	1	0	6	783					A	39202291	G	A	39202291	3	1	45	1	0	0	0	0	1	0	0	0	6151	1203	42	2	1789	2	FYB	5	39202291	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	24591898	39202291	141712969	48	5287											
MCC	4163	broad.mit.edu	37	chr5	112419833	112419833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgagcccaggactggccGatcagatgatgacgattcgg	13	10	2	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:112419833G>A	ENST00000302475.4	-	8	1593	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	MCC_ENST00000408903.3_Missense_Mutation_p.R534W|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R281W	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	344					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGGACTGGCCGATCAGATGAT	0.438																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1030-1032)Cgg>Tgg		mutated in colorectal cancers							186	172	177					5																	112419833		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112419833G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1030C>T	5.37:g.112419833G>A	ENSP00000305617:p.Arg344Trp					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R281W|MCC_ENST00000408903.3_Missense_Mutation_p.R534W	p.R344W	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	8	1593	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	344					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1030C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764225	0.69878	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39997	2.21;2.21;1.05	5.47	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.27053	0.805	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.973;0.973;0.992;0.973	T	0.54337	-0.8309	10	0.72032	D	0.01	-18.4526	13.209	0.59813	0.0:0.0:0.5744:0.4256	.	344;306;534;344	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	W	344;281;534	ENSP00000305617:R344W;ENSP00000421615:R281W;ENSP00000386227:R534W	ENSP00000305617:R344W	R	-	1	2	MCC	112447732	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	1.954000	0.40362	1.251000	0.43983	0.563000	0.77884	CGG		0.438	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		5	417	0	0	0	1	0	5	417					A	112419833	G	A	112419833	3	1	45	1	0	0	0	0	1	0	0	0	9414	1057	37	1	1499	1	MCC	5	112419833	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	73217542	112419833	68495427	49	5288											
KLHL3	26249	broad.mit.edu	37	chr5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggacatgttccAtcagctttgccatgtgctct	11	10	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000309755.4	-	7	1150	c.707T>C	c.(706-708)aTg>aCg	p.M236T	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(610-612)aTg>aCg		kelch-like family member 3							165	138	147					5																	136997650		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136997650A>G	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.707T>C	5.37:g.136997650A>G	ENSP00000312397:p.Met236Thr					KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR	p.M204T	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	7	1325	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	236					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.611T>C	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	KLHL3	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG		0.443	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			46	212	0	0	0	1	0	46	212					G	136997650	A	G	136997650	3	3	45	1	0	0	0	0	1	0	0	0	8413	217	8	4	1092	4	KLHL3	5	136997650	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	24577817	136997650	43917610	50	5289											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	527	1	0	0.000673444	1	0.000685105	7	527					T	140553994	G	T	140553994	2	4	45	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	3556344	140553994	40361266	51	5290											
HIVEP1	3096	broad.mit.edu	37	chr6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccaaacttgaacaggTttataatatagcagtgacat	8	6	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(973-975)gTt>gCt		human immunodeficiency virus type I enhancer binding protein 1							112	105	107					6																	12121002		1937	4138	6075	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121002T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.974T>C	6.37:g.12121002T>C	ENSP00000368698:p.Val325Ala						p.V325A	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1306	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	325					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.974T>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	HIVEP1	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT		0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		91	477	0	0	0	1	0	91	477					C	12121002	T	C	12121002	3	2	45	1	0	0	0	0	1	0	0	0	7216	1725	60	4	984	4	HIVEP1	6	12121002	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		12121002	158994065	52	5291											
BTN3A1	11119	broad.mit.edu	37	chr6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attattgtgttctcggctgtGagagcttcatatcagggaga	12	6	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1162-1164)Gag>Aag		butyrophilin, subfamily 3, member A1							141	149	146					6																	26413540		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26413540G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1162G>A	6.37:g.26413540G>A	ENSP00000289361:p.Glu388Lys					BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	p.E388K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1530	+			388			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1162G>A	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	BTN3A1	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG		0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			69	506	0	0	0	1	0	69	506					A	26413540	G	A	26413540	3	1	45	1	0	0	0	0	1	0	0	0	1566	1291	45	2	1364	2	BTN3A1	6	26413540	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	14292538	26413540	144701527	53	5292											
BAT4	7918	broad.mit.edu	37	chr6	31631878	31631878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcctcctgcctcatgCggttccagcagtctcctaag	8	17	2	0	rs374001839		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:31631878C>T	ENST00000375906.1	-	3	1062	c.378G>A	c.(376-378)ccG>ccA	p.P126P	CSNK2B_ENST00000375866.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Silent_p.P126P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	126							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTGCCTCATGCGGTTCCAGCA	0.617																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(376-378)ccG>ccA		G patch domain and ankyrin repeats 1		C	,,,,	0,4406		0,0,2203	84	81	82		378,378,378,378,378	2.8	0.8	6		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	126/357,126/357,126/357,126/357,126/357	31631878	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31631878C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.378G>A	6.37:g.31631878C>T						GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375895.2_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P	p.P126P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			3	1062	-			126					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.378G>A	CCDS4711.1																																																																																				0.617	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		5	516	0	0	0	1	0	5	516					T	31631878	C	T	31631878	2	4	45	1	0	0	0	0	0	0	0	1	1324	755	27	1		1	BAT4	6	31631878	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	5218338	31631878	139483189	54	5293											
KIFC1	3833	broad.mit.edu	37	chr6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccattaacagcagcctgTccacgctggggctggttatc	12	12	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1789-1791)Tcc>Ccc		kinesin family member C1							38	42	41					6																	33374225		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374225T>C	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1789T>C	6.37:g.33374225T>C	ENSP00000393963:p.Ser597Pro						p.S597P	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2239	+			597					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1789T>C	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	KIFC1	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC		0.637	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		43	306	0	0	0	1	0	43	306					C	33374225	T	C	33374225	3	2	45	1	0	0	0	0	1	0	0	0	8342	1667	58	4	1819	4	KIFC1	6	33374225	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	1742347	33374225	137740842	55	5294											
ITPR3	3710	broad.mit.edu	37	chr6	33659689	33659689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtgggcgacattctccGcaagccctccaaagatgtga	12	12	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33659689G>A	ENST00000374316.5	+	55	8502	c.7442G>A	c.(7441-7443)cGc>cAc	p.R2481H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2481					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)			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)	GACATTCTCCGCAAGCCCTCC	0.592																																						ENST00000374316.5																			0				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						c.(7441-7443)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							192	170	177					6																	33659689		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.chr6:33659689G>A	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.7442G>A	6.37:g.33659689G>A	ENSP00000363435:p.Arg2481His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H	p.R2481H			Q14573	ITPR3_HUMAN			55	8502	+			2481					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7442G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316045	0.95655	.	.	ENSG00000096433	ENST00000374316	D	0.92595	-3.07	4.68	4.68	0.58851	Ion transport (1);	0.216428	0.47093	D	0.000255	D	0.96147	0.8744	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.68192	0.956;0.768	D	0.96515	0.9381	10	0.87932	D	0	-33.0666	18.2265	0.89918	0.0:0.0:1.0:0.0	.	2481;2151	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2481	ENSP00000363435:R2481H	ENSP00000363435:R2481H	R	+	2	0	ITPR3	33767667	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.650000	0.98490	2.615000	0.88500	0.555000	0.69702	CGC		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	856	0	0	0	1	0	7	856					A	33659689	G	A	33659689	3	1	45	1	0	0	0	0	1	0	0	0	7952	1087	38	1	7656	1	ITPR3	6	33659689	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	285464	33659689	137455378	56	5295											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T													caagaaagcaaaagcctctgINSttttttttcttgtcatccgg							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		10	726						10	726	---	---	---	---	T	86332354	-	T	86332353	7	5	45	1	0	1	1	0	0	0	0	0	15496	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	52672664	86332353	84782714	57	5296											
MDN1	23195	broad.mit.edu	37	chr6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccaggtttcatgtgctCgcaaagaagaaacatgtttc	8	11	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7258-7260)cGa>cAa		MDN1, midasin homolog (yeast)							71	68	69					6																	90422465		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422465C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7259G>A	6.37:g.90422465C>T	ENSP00000358400:p.Arg2420Gln					MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q	p.R2420Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7374	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2420					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7259G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	MDN1	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	271	0	0	0	1	0	37	271					T	90422465	C	T	90422465	3	4	45	1	0	0	0	0	1	0	0	0	9456	884	31	1	9751	1	MDN1	6	90422465	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	4090112	90422465	80692602	58	5297											
SLC16A10	117247	broad.mit.edu	37	chr6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtaggttctctctccatgGggatgattttcttttgctgc	12	8	3	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTCTCCATGGGGATGATTTT	0.428																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(367-369)Ggg>Tgg		solute carrier family 16 (aromatic amino acid transporter), member 10							156	143	148					6																	111493921		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111493921G>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.367G>T	6.37:g.111493921G>T	ENSP00000357844:p.Gly123Trp					SLC16A10_ENST00000465319.1_3'UTR	p.G123W	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	542	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	123					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.367G>T	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	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	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	SLC16A10|SLC16A10	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			22	360	1	0	2.70639e-06	1	2.82668e-06	22	360					T	111493921	G	T	111493921	3	4	45	1	0	0	0	0	1	0	0	0	14453	1232	43	3	373	3	SLC16A10	6	111493921	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	21071456	111493921	59621146	59	5298											
C6orf170	221322	broad.mit.edu	37	chr6	121544428	121544428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaatattctgttttattaGgaagatcttgattccttaca	7	5	2	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:121544428G>T	ENST00000398212.2	-	21	2484	c.2435C>A	c.(2434-2436)cCt>cAt	p.P812H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	812					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGTTTTATTAGGAAGATCTTG	0.318																																						ENST00000275159.6																			0											c.(2434-2436)cCt>cAt		TBC1 domain family, member 32							105	98	100					6																	121544428		1815	4079	5894	SO:0001583	missense	221322							g.chr6:121544428G>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2435C>A	6.37:g.121544428G>T	ENSP00000381270:p.Pro812His					TBC1D32_ENST00000398212.2_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	p.P812H							21	2434	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2435C>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550957	0.65311	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.29397	1.57;1.57	5.64	4.78	0.61160	.	0.204155	0.51477	D	0.000082	T	0.43010	0.1228	M	0.71581	2.175	0.49798	D	0.999829	D;D	0.89917	0.997;1.0	P;D	0.74348	0.847;0.983	T	0.48364	-0.9042	10	0.72032	D	0.01	.	11.9792	0.53111	0.0818:0.0:0.9182:0.0	.	812;812	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	812	ENSP00000275159:P812H;ENSP00000381270:P812H	ENSP00000275159:P812H	P	-	2	0	C6orf170	121586127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.087000	0.50167	1.526000	0.49068	0.655000	0.94253	CCT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		30	238	1	0	9.39395e-14	1	1.03158e-13	30	238					T	121544428	G	T	121544428	3	4	45	1	0	0	0	0	1	0	0	0	2351	1000	35	3	1386	3	C6orf170	6	121544428	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	10050507	121544428	49570639	60	5299											
LATS1	9113	broad.mit.edu	37	chr6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctggttttaatacacGcatacttttcacaggctgtt	7	9	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443																																						ENST00000543571.1																			1	Substitution - Missense(1)	p.R502C(1)	lung(1)	central_nervous_system(1)|lung(5)	6						c.(1504-1506)Cgt>Tgt		large tumor suppressor kinase 1							134	139	137					6																	150004721		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004721G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1504C>T	6.37:g.150004721G>A	ENSP00000437550:p.Arg502Cys					LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR	p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2051	-		Ovarian(120;0.0164)	502						Missense_Mutation	SNP	ENST00000543571.1	37	c.1504C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT		0.443	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		5	615	0	0	0	1	0	5	615					A	150004721	G	A	150004721	3	1	45	1	0	0	0	0	1	0	0	0	8677	1087	38	1	1908	1	LATS1	6	150004721	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	28460293	150004721	21110346	61	5300											
PLG	5340	broad.mit.edu	37	chr6	161134091	161134091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagacaacgatccgcagGggccctggtgctatactact	10	13	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:161134091G>A	ENST00000308192.9	+	5	544	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTG	0.478																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59	GRCh37	CM068074	PLG	M		c.(481-483)Ggg>Agg		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						142	139	140					6																	161134091		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134091G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.481G>A	6.37:g.161134091G>A	ENSP00000308938:p.Gly161Arg					PLG_ENST00000462918.1_3'UTR	p.G161R	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	544	+			161			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.481G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725582	0.68959	.	.	ENSG00000122194	ENST00000308192	T	0.63580	-0.05	5.11	5.11	0.69529	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.39475	U	0.001351	T	0.60792	0.2296	M	0.65975	2.015	0.80722	D	1	P	0.40731	0.728	P	0.45037	0.467	T	0.68153	-0.5484	10	0.87932	D	0	.	17.6597	0.88188	0.0:0.0:1.0:0.0	.	161	P00747	PLMN_HUMAN	R	161	ENSP00000308938:G161R	ENSP00000308938:G161R	G	+	1	0	PLG	161054081	1.000000	0.71417	0.825000	0.32803	0.207000	0.24258	9.065000	0.93941	2.541000	0.85698	0.650000	0.86243	GGG		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	625	0	0	0	1	0	5	625					A	161134091	G	A	161134091	3	1	45	1	0	0	0	0	1	0	0	0	12128	1232	43	2	503	2	PLG	6	161134091	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	11129370	161134091	9980976	62	5301											
ELMO1	9844	broad.mit.edu	37	chr7	36917614	36917614	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaaggagagctacttaCgtttgtcctgcaaggaatcg	11	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCTACTTACGTTTGTCCTG	0.488																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.e19+1		engulfment and cell motility 1							99	80	87					7																	36917614		2203	4300	6503	SO:0001630	splice_region_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917614C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1822+1G>A	7.37:g.36917614C>T						ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site		NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			19	2470	-								A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Splice_Site	SNP	ENST00000310758.4	37		CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO1	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.		0.488	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	Intron	17	136	0	0	0	1	0	17	136					T	36917614	C	T	36917614	5	4	45	1	0	0	0	0	0	0	1	0	5083	550	19	1	376	1	ELMO1	7	36917614	Splice_Site	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		36917614	122221049	63	5302											
ABCA13	154664	broad.mit.edu	37	chr7	48315041	48315041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcataagatattaccGtttgtcccaccttcaataaa	5	9	1	1	rs192083637	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1926					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						AGATATTACCGTTTGTCCCAC	0.373													g|||	6	0.00119808	0.0023	0.0	5008	,	,		18660	0.0		0.003	False		,,,				2504	0.0					ENST00000435803.1																			0				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						c.(5776-5778)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 13		G		14,3646		0,14,1816	123	125	124		5778	-5.5	0	7		124	26,8146		0,26,4060	no	coding-synonymous	ABCA13	NM_152701.3		0,40,5876	AA,AG,GG		0.3182,0.3825,0.3381		1926/5059	48315041	40,11792	1830	4086	5916	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315041G>A	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.5778G>A	7.37:g.48315041G>A							p.P1926P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5802	+			1926					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.5778G>A	CCDS47584.1																																																																																				0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		98	521	0	0	0	1	0	98	521					A	48315041	G	A	48315041	2	1	45	1	0	0	0	0	0	0	0	1	31	1132	40	1		1	ABCA13	7	48315041	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	11397427	48315041	110823622	64	5303											
GJC3	349149	broad.mit.edu	37	chr7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttcatctccaactcaggcAtctctgggtccaactggtct	8	13	5	0	rs377442638		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388																																						ENST00000312891.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(832-834)gaT>gaA		gap junction protein, gamma 3, 30.2kDa							121	112	115					7																	99521174		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521174A>T	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"Ion channels / Gap junction proteins (connexins)"	17495	protein-coding gene	gene with protein product	"connexin 30.2"	611925	"gap junction protein, epsilon 1, 29kDa"	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.834T>A	7.37:g.99521174A>T	ENSP00000325775:p.Asp278Glu						p.D278E	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN			2	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		278					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.834T>A	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	GJC3	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT		0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		39	264	0	0	0	1	0	39	264					T	99521174	A	T	99521174	3	4	45	1	0	0	0	0	1	0	0	0	6445	214	8	5	9	5	GJC3	7	99521174	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	51206133	99521174	59617489	65	5304											
SLC12A9	56996	broad.mit.edu	37	chr7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaaccctctcaccctccGtgcgccagggggctcagcat	9	17	3	0	rs368545922		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1816-1818)Gtg>Atg		solute carrier family 12, member 9							130	107	115					7																	100460407		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100460407G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1816G>A	7.37:g.100460407G>A	ENSP00000275730:p.Val606Met					SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			13	1941	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		606					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1816G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	SLC12A9	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG		0.637	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		101	607	0	0	0	1	0	101	607					A	100460407	G	A	100460407	3	1	45	1	0	0	0	0	1	0	0	0	14440	1145	40	1	1862	1	SLC12A9	7	100460407	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	939233	100460407	58678256	66	5305											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcttctaattcattcGtctttttcttttcctcttcc	2	13	6	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(616-618)aCg>aTg		cortactin binding protein 2							144	134	137					7																	117432633		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432633G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.617C>T	7.37:g.117432633G>A	ENSP00000160373:p.Thr206Met						p.T206M	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	708	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		206					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.617C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	CTTNBP2	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG		0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		51	278	0	0	0	1	0	51	278					A	117432633	G	A	117432633	3	1	45	1	0	0	0	0	1	0	0	0	4056	1145	40	1	4454	1	CTTNBP2	7	117432633	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16972226	117432633	41706030	67	5306											
EXOC4	60412	broad.mit.edu	37	chr7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-													ctggacgagagtttgcagccTtttttgccaagaagaaacct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123	127	126					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	698						9	698	---	---	---	---	-	133160181	T	-	133160181	7	5	45	1	0	1	0	1	0	0	0	0	5324	1609	56	0	1312	0	EXOC4	7	133160181	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	15727548	133160181	25978482	68	5307											
RP1L1	94137	broad.mit.edu	37	chr8	10470231	10470231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagccctcggggaggccGgtgctggaggctgggctggc	20	12	0	0	rs201173500		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	459					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)		CGGGGAGGCCGGTGCTGGAGG	0.726																																						ENST00000382483.3																			0				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						c.(1375-1377)acC>acT		retinitis pigmentosa 1-like 1							27	34	32					8																	10470231		2000	4150	6150	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470231G>A	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.1377C>T	8.37:g.10470231G>A							p.T459T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1600	-			459					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1377C>T	CCDS43708.1																																																																																				0.726	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			71	445	0	0	0	1	0	71	445					A	10470231	G	A	10470231	2	1	45	1	0	0	0	0	0	0	0	1	13583	1103	39	1		1	RP1L1	8	10470231	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		10470231	135893791	69	5308											
ADRA1A	148	broad.mit.edu	37	chr8	26627753	26627753	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaggctgggggttgaGggccctacacagcagcagac	15	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:26627753G>T	ENST00000380573.3	-	3	2337	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGGGGTTGAGGGCCCTACAC	0.522																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1312-1314)ccC>ccA		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						176	173	174					8																	26627753		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627753G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1314C>A	8.37:g.26627753G>T						ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron	p.P438P			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2337	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	438					Q9NPY0	Silent	SNP	ENST00000380573.3	37	c.1314C>A	CCDS6054.1																																																																																				0.522	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376208.1	NM_033303		6	733	1	0	0.0215528	1	0.0217378	6	733					T	26627753	G	T	26627753	2	4	45	1	0	0	0	0	0	0	0	1	334	987	35	3		3	ADRA1A	8	26627753	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16157522	26627753	119736269	70	5309											
RIMS2	9699	broad.mit.edu	37	chr8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcgcaggacgaaggggccGacagcttccacagcttccac	12	14	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CGAAGGGGCCGACAGCTTCCA	0.443										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(2734-2736)cGa>cAa		regulating synaptic membrane exocytosis 2							72	78	76					8																	105026802		1923	4110	6033	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026802G>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.2513G>A	8.37:g.105026802G>A	ENSP00000390665:p.Arg838Gln	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q	p.R912Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2971	+			1160			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2735G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	RIMS2	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		24	178	0	0	0	1	0	24	178					A	105026802	G	A	105026802	3	1	45	1	0	0	0	0	1	0	0	0	13418	1058	37	1	3563	1	RIMS2	8	105026802	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	78399049	105026802	41337220	71	5310											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	959						7	959	---	---	---	---	-	105440214	T	-	105440214	7	5	45	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	413412	105440214	40923808	72	5311											
KCNQ3	3786	broad.mit.edu	37	chr8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctgtagggtggttccGgggggcctgtctcagaatag	18	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTGGTTCCGGGGGGCCTGT	0.547																																						ENST00000388996.4																			1	Insertion - Frameshift(1)	p.E694fs*12(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2077-2079)cCg>cTg		potassium voltage-gated channel, KQT-like subfamily, member 3							89	79	82					8																	133142050		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142050G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2078C>T	8.37:g.133142050G>A	ENSP00000373648:p.Pro693Leu					KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	p.P693L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2498	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		693					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2078C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	KCNQ3	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG		0.547	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		42	518	0	0	0	1	0	42	518					A	133142050	G	A	133142050	3	1	45	1	0	0	0	0	1	0	0	0	8114	1116	39	1	544	1	KCNQ3	8	133142050	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	27701836	133142050	13221972	73	5312											
KCNQ3	3786	broad.mit.edu	37	chr8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcgtaggctttcatgCggaaggccgtgcggaaacgc	15	9	1	1	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTTTCATGCGGAAGGCCGT	0.473																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.R477H(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1429-1431)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 3							119	124	122					8																	133153411		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153411C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1430G>A	8.37:g.133153411C>T	ENSP00000373648:p.Arg477His					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1850	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		477					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1430G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	KCNQ3	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC		0.473	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		60	527	0	0	0	1	0	60	527					T	133153411	C	T	133153411	3	4	45	1	0	0	0	0	1	0	0	0	8114	768	27	1	1212	1	KCNQ3	8	133153411	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	11361	133153411	13210611	74	5313											
COMMD5	28991	broad.mit.edu	37	chr8	146076505	146076505	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctccggcaggttggcgctGaccccaagacgctgcacagc	12	16	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V73V|COMMD5_ENST00000402718.3_Silent_p.V73V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647																																						ENST00000450361.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(217-219)gtC>gtT		COMM domain containing 5							24	22	23					8																	146076505		2202	4298	6500	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076505G>A	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.219C>T	8.37:g.146076505G>A						COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000305103.3_Silent_p.V73V	p.V73V	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	640	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.219C>T	CCDS6436.1																																																																																				0.647	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		33	187	0	0	0	1	0	33	187					A	146076505	G	A	146076505	2	1	45	1	0	0	0	0	0	0	0	1	3728	1277	45	2		2	COMMD5	8	146076505	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	12923094	146076505	287517	75	5314											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		11	149						11	149	---	---	---	---	-	2039779	CAG	-	2039777	7	5	45	1	0	1	0	1	0	0	0	0	14819	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-FB-A5VM-01A-11D-A32N-08		2039777	139173654	76	5315											
ZNF484	83744	broad.mit.edu	37	chr9	95609448	95609448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtatgacacttctgatgtaTcctgagccgagacttccagg	10	10	1	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:95609448T>A	ENST00000375495.3	-	5	1769	c.1621A>T	c.(1621-1623)Ata>Tta	p.I541L	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.I543L|ZNF484_ENST00000395505.2_Missense_Mutation_p.I505L|ZNF484_ENST00000332591.6_Missense_Mutation_p.I505L	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	541					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCTGATGTATCCTGAGCCGA	0.398																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1513-1515)Ata>Tta		zinc finger protein 484							174	173	173					9																	95609448		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609448T>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1621A>T	9.37:g.95609448T>A	ENSP00000364645:p.Ile541Leu					ZNF484_ENST00000332591.6_Missense_Mutation_p.I505L|ZNF484_ENST00000375495.3_Missense_Mutation_p.I541L|ZNF484_ENST00000395506.3_Missense_Mutation_p.I543L|ANKRD19P_ENST00000473204.1_RNA	p.I505L	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1605	-			541					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1513A>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.865541	0.32977	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.24	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12178	0.0296	N	0.20574	0.59	0.23533	N	0.997479	D;D	0.63880	0.993;0.993	D;D	0.76071	0.987;0.987	T	0.30909	-0.9962	9	0.17832	T	0.49	.	8.3656	0.32385	0.0:0.0:0.0:1.0	.	543;541	B4DRI2;Q5JVG2	.;ZN484_HUMAN	L	505;543;541;505	ENSP00000378881:I505L;ENSP00000378882:I543L;ENSP00000364645:I541L;ENSP00000364646:I505L	ENSP00000364646:I505L	I	-	1	0	ZNF484	94649269	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.348000	0.20031	1.274000	0.44362	0.372000	0.22366	ATA		0.398	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		6	808	0	0	0	1	0	6	808					A	95609448	T	A	95609448	3	1	45	1	0	0	0	0	1	0	0	0	17990	1435	50	5	941	5	ZNF484	9	95609448	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	93569671	95609448	45603983	77	5316											
C9orf5	23731	broad.mit.edu	37	chr9	111812948	111812948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctcacattccggctcaTaacgatccacagagactcca	7	15	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:111812948T>C	ENST00000374586.3	-	13	1910	c.1879A>G	c.(1879-1881)Atg>Gtg	p.M627V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	627						integral component of membrane (GO:0016021)											TTCCGGCTCATAACGATCCAC	0.463																																						ENST00000374586.3																			0											c.(1879-1881)Atg>Gtg		transmembrane protein 245							104	102	103					9																	111812948		2006	4178	6184	SO:0001583	missense	23731					integral to membrane		g.chr9:111812948T>C	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1879A>G	9.37:g.111812948T>C	ENSP00000363714:p.Met627Val						p.M627V	NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN			13	1910	-			627					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1879A>G	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.072964|2.072964	0.36566|0.36566	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|.	0.39229|.	1.09|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.01668|0.01668	-0.77|-0.77	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.59357|.	0.982;0.985|.	D;D|.	0.72338|.	0.961;0.977|.	T|T	0.36648|0.36648	-0.9739|-0.9739	10|5	0.10902|.	T|.	0.67|.	-33.0733|-33.0733	16.2141|16.2141	0.82191|0.82191	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	627;627|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|C	627|219	ENSP00000363714:M627V|.	ENSP00000223608:M627V|.	M|Y	-|-	1|2	0|0	C9orf5|C9orf5	110852769|110852769	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.888000|0.888000	0.51559|0.51559	6.262000|6.262000	0.72514|0.72514	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.463	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		6	232	0	0	0	1	0	6	232					C	111812948	T	C	111812948	3	2	45	1	0	0	0	0	1	0	0	0	2493	1406	49	4	784	4	C9orf5	9	111812948	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	16203500	111812948	29400483	78	5317											
DUPD1	338599	broad.mit.edu	37	chr10	76797813	76797813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgaccggctgcggcccatGacgcagtgaaccaggatctt	13	13	1	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(442-444)gtC>gtT		dual specificity phosphatase and pro isomerase domain containing 1							59	52	54					10																	76797813		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797813G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.444C>T	10.37:g.76797813G>A							p.V148V	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			3	443	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		148			Substrate binding (Probable).|Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.444C>T	CCDS31223.1																																																																																				0.617	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		41	285	0	0	0	1	0	41	285					A	76797813	G	A	76797813	2	1	45	1	0	0	0	0	0	0	0	1	4820	1277	45	2		2	DUPD1	10	76797813	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		76797813	58736934	79	5318											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	10	13	1	1	rs76949963	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94	97	96					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	867	0	0	0	1	0	10	867					C	126682486	T	C	126682486	2	2	45	1	0	0	0	0	0	0	0	1	4009	1606	56	4		4	CTBP2	10	126682486	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	49884673	126682486	8852261	80	5319											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	819	0	0	0	1	0	10	819					A	126682516	G	A	126682516	2	1	45	1	0	0	0	0	0	0	0	1	4009	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	30	126682516	8852231	81	5320											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8	10	9					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		19	89	0	0	0	1	0	19	89					C	134218293	A	C	134218293	3	2	45	1	0	0	0	0	1	0	0	0	12896	159	6	4	295	4	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	7535777	134218293	1316454	82	5321											
PHRF1	57661	broad.mit.edu	37	chr11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-													tggagaacaccaaagcgagcGaggaggaggaggacccgacc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	843						9	843	---	---	---	---	-	592588	GAG	-	592586	7	5	45	1	0	1	0	1	0	0	0	0	11903	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-FB-A5VM-01A-11D-A32N-08		592586	134413930	83	5322											
IGSF22	283284	broad.mit.edu	37	chr11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggcgggtgttaccctccaCagtgacgatggcagtactgt	14	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1525-1527)Gtg>Ctg		immunoglobulin superfamily, member 22							114	116	116					11																	18736985		2152	4249	6401	SO:0001583	missense	283284							g.chr11:18736985C>G	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1525G>C	11.37:g.18736985C>G	ENSP00000421191:p.Val509Leu					RP11-1081L13.4_ENST00000527285.1_RNA	p.V509L	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			11	1664	-			509					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1525G>C	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	IGSF22	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG		0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		68	462	0	0	0	1	0	68	462					G	18736985	C	G	18736985	3	3	45	1	0	0	0	0	1	0	0	0	7630	478	17	5	2507	5	IGSF22	11	18736985	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	18144399	18736985	116269531	84	5323											
ANO5	203859	broad.mit.edu	37	chr11	22281145	22281145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttgctagtttcatggaAagtgatgcatccttaaagca	8	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1486-1488)gaA>gaG		anoctamin 5							228	196	207					11																	22281145		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281145A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1488A>G	11.37:g.22281145A>G							p.E496E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			15	1805	+			496						Silent	SNP	ENST00000324559.8	37	c.1488A>G	CCDS31444.1																																																																																				0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		37	289	0	0	0	1	0	37	289					G	22281145	A	G	22281145	2	3	45	1	0	0	0	0	0	0	0	1	700	11	1	4		4	ANO5	11	22281145	Silent	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	3544160	22281145	112725371	85	5324											
FBXO3	26273	broad.mit.edu	37	chr11	33763529	33763529	+	Silent	SNP	T	T	C													cgtctctcctcttcatcatcTtcatctgattcatccatatc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000265651.3	-	11	1359	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E|FBXO3_ENST00000531080.1_Silent_p.E134E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)gaA>gaG		F-box protein 3							211	161	177					11																	33763529		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763529T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1341A>G	11.37:g.33763529T>C						FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000265651.3_Silent_p.E447E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR	p.E334E			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4753	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1002A>G	CCDS7887.1																																																																																				0.478	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		29	182	0	0	0	1	0	29	182					C	33763529	T	C	33763529	2	2	45	1	0	0	0	0	0	0	0	1	5764	1606	56	4		4	FBXO3	11	33763529	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	11482384	33763529	101242987	86	5325	39	2									
FBXO3	26273	broad.mit.edu	37	chr11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T													tctctcctcttcatcatcttCatctgattcatccatatctg							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000265651.3	-	11	1357	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)Gaa>Aaa		F-box protein 3							211	161	178					11																	33763531		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763531C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1339G>A	11.37:g.33763531C>T	ENSP00000265651:p.Glu447Lys					FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR	p.E334K			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4751	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1000G>A	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	FBXO3	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA		0.483	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		28	175	0	0	0	1	0	28	175					T	33763531	C	T	33763531	3	4	45	1	0	0	0	0	1	0	0	0	5764	835	29	2	80	2	FBXO3	11	33763531	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2	33763531	101242985	87	5326	39	2									
OR4A15	81328	broad.mit.edu	37	chr11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgttcttatgctgttggCggcctggattggaggctttc	14	8	1	0	rs374555766		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:55135883C>T	ENST00000314706.3	+	1	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(523-525)gCg>gTg		olfactory receptor, family 4, subfamily A, member 15		C	VAL/ALA	0,4402		0,0,2201	230	206	214		524	0.9	0	11		214	1,8591		0,1,4295	no	missense	OR4A15	NM_001005275.1	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	175/345	55135883	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135883C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.524C>T	11.37:g.55135883C>T	ENSP00000325065:p.Ala175Val						p.A175V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	524	+			175					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.524C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.404654	0.00195	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.36878	1.23	3.48	0.889	0.19212	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09261	N	0.826617	T	0.13329	0.0323	N	0.05031	-0.125	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	10	0.02654	T	1	.	4.4129	0.11441	0.0:0.1165:0.4033:0.4802	.	175	Q8NGL6	O4A15_HUMAN	V	175	ENSP00000325065:A175V	ENSP00000325065:A175V	A	+	2	0	OR4A15	54892459	0.000000	0.05858	0.028000	0.17463	0.200000	0.23975	-0.127000	0.10547	0.012000	0.14892	-0.487000	0.04747	GCG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		6	778	0	0	0	1	0	6	778					T	55135883	C	T	55135883	3	4	45	1	0	0	0	0	1	0	0	0	11082	768	27	1	526	1	OR4A15	11	55135883	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	21372352	55135883	79870633	88	5327											
OR5M3	219482	broad.mit.edu	37	chr11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcgaatacagacaacccttGacattttactgccataaagc	6	11	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(403-405)tCa>tGa		olfactory receptor, family 5, subfamily M, member 3							95	89	91					11																	56237570		2201	4290	6491	SO:0001587	stop_gained	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237570G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.404C>G	11.37:g.56237570G>C	ENSP00000312208:p.Ser135*						p.S135*	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	444	-	Esophageal squamous(21;0.00448)		135					B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	37	c.404C>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	OR5M3	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA		0.408	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		8	614	0	0	0	1	0	8	614					C	56237570	G	C	56237570	4	2	45	1	0	0	0	0	0	1	0	0	11217	1294	45	5	521	5	OR5M3	11	56237570	Nonsense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1101687	56237570	78768946	89	5328											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgttggcatcttggctgGcataagcacccagagaatct	11	11	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A898V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2692-2694)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							187	185	186					11																	57077492		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077492G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2693C>T	11.37:g.57077492G>A	ENSP00000437271:p.Ala898Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V	p.A898V			Q9C0C2	TB182_HUMAN			5	3004	-		all_epithelial(135;0.21)	898			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2693C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678909	0.29783	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34667	1.35;1.35	4.47	-3.24	0.05094	.	1.939410	0.03105	N	0.161631	T	0.27697	0.0681	L	0.29908	0.895	0.09310	N	0.999999	B	0.32829	0.386	B	0.28011	0.085	T	0.42241	-0.9463	10	0.59425	D	0.04	0.0096	11.9863	0.53149	0.0805:0.6124:0.3072:0.0	.	898	Q9C0C2	TB182_HUMAN	V	898	ENSP00000350990:A898V;ENSP00000437271:A898V	ENSP00000350990:A898V	A	-	2	0	TNKS1BP1	56834068	0.000000	0.05858	0.003000	0.11579	0.360000	0.29518	0.096000	0.15147	-0.334000	0.08463	0.462000	0.41574	GCC		0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		6	940	0	0	0	1	0	6	940					A	57077492	G	A	57077492	3	1	45	1	0	0	0	0	1	0	0	0	16372	1203	42	2	2520	2	TNKS1BP1	11	57077492	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	839922	57077492	77929024	90	5329											
GIF	2694	broad.mit.edu	37	chr11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgattaacattttccGcgatattgttgatagaagag	9	5	1	4	rs370902375		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					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.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AACATTTTCCGCGATATTGTT	0.368																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			1	Substitution - Missense(1)	p.A377V(1)	upper_aerodigestive_tract(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1054-1056)gCg>gTg		gastric intrinsic factor (vitamin B synthesis)		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	122	110	114		1130	4.4	1	11		114	2,8588	2.2+/-6.3	0,2,4293	no	missense	GIF	NM_005142.2	64	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	377/418	59599213	3,12989	2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59599213G>A	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.1130C>T	11.37:g.59599213G>A	ENSP00000257248:p.Ala377Val					GIF_ENST00000257248.2_Missense_Mutation_p.A377V	p.A352V			P27352	IF_HUMAN			8	1289	-			377					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.1055C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	GIF	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG		0.368	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		39	325	0	0	0	1	0	39	325					A	59599213	G	A	59599213	3	1	45	1	0	0	0	0	1	0	0	0	6405	1087	38	1	131	1	GIF	11	59599213	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2521721	59599213	75407303	91	5330											
AHNAK	79026	broad.mit.edu	37	chr11	62292121	62292121	+	Frame_Shift_Del	DEL	T	T	-													tctacatctatctttgggccTtttatgtcaagagcaggtcc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:62292121delT	ENST00000378024.4	-	5	10042	c.9768delA	c.(9766-9768)aaafs	p.K3256fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3256					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTTGGGCCTTTTATGTCAA	0.403																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9766-9768)aafs		AHNAK nucleoprotein							113	106	108					11																	62292121		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292121delT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9768delA	11.37:g.62292121delT	ENSP00000367263:p.Lys3256fs					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3256fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10042	-		Melanoma(852;0.155)	3256					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.9768delA	CCDS31584.1																																																																																				0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	491						7	491	---	---	---	---	-	62292121	T	-	62292121	7	5	45	1	0	1	0	1	0	0	0	0	414	1606	56	0	8024	0	AHNAK	11	62292121	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	2692908	62292121	72714395	92	5331											
AHNAK	79026	broad.mit.edu	37	chr11	62297671	62297671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcaacgtcagctttgggCagcttcacatccacttcagg	8	13	4	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:62297671C>T	ENST00000378024.4	-	5	4492	c.4218G>A	c.(4216-4218)ctG>ctA	p.L1406L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1406					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTTGGGCAGCTTCACAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4216-4218)ctG>ctA		AHNAK nucleoprotein							196	210	205					11																	62297671		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297671C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4218G>A	11.37:g.62297671C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L1406L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4492	-		Melanoma(852;0.155)	1406					A1A586	Silent	SNP	ENST00000378024.4	37	c.4218G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1205	0	0	0	1	0	7	1205					T	62297671	C	T	62297671	2	4	45	1	0	0	0	0	0	0	0	1	414	697	25	2		2	AHNAK	11	62297671	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	5550	62297671	72708845	93	5332											
PLCB3	5331	broad.mit.edu	37	chr11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggacctgatgggccGtatcctggtgaagaacaaga	12	12	0	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1384-1386)cGt>cAt		phospholipase C, beta 3 (phosphatidylinositol-specific)							17	23	21					11																	64026576		2200	4296	6496	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026576G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1385G>A	11.37:g.64026576G>A	ENSP00000443631:p.Arg462His					PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H	p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			13	1488	+			462			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1385G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	PLCB3	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT		0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			4	133	0	0	0	1	0	4	133					A	64026576	G	A	64026576	3	1	45	1	0	0	0	0	1	0	0	0	12071	1145	40	1	1435	1	PLCB3	11	64026576	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1728905	64026576	70979940	94	5333											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109	98	102					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	374	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		35	234	0	0	0	1	0	35	234					G	25380275	T	G	25380275	3	3	45	1	0	0	0	0	1	0	0	0	8468	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		25380275	108471620	95	5334											
FGD4	121512	broad.mit.edu	37	chr12	32735087	32735087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaacggtgtaatggcaGcacaaaaccagatggaatgt	12	8	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:32735087G>A	ENST00000427716.2	+	4	710	c.286G>A	c.(286-288)Gca>Aca	p.A96T	FGD4_ENST00000531134.1_Missense_Mutation_p.A181T|FGD4_ENST00000546442.1_Missense_Mutation_p.A3T|FGD4_ENST00000472289.1_Missense_Mutation_p.A96T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.A233T|FGD4_ENST00000525053.1_Missense_Mutation_p.A208T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	96	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTAATGGCAGCACAAAACCA	0.473																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(286-288)Gca>Aca		FYVE, RhoGEF and PH domain containing 4							150	121	131					12																	32735087		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735087G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.286G>A	12.37:g.32735087G>A	ENSP00000394487:p.Ala96Thr					FGD4_ENST00000472289.1_Missense_Mutation_p.A96T|FGD4_ENST00000525053.1_Missense_Mutation_p.A208T|FGD4_ENST00000534526.2_Missense_Mutation_p.A233T|FGD4_ENST00000546442.1_Missense_Mutation_p.A3T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Missense_Mutation_p.A181T	p.A96T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			4	710	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		96			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.286G>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359446	0.41801	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.73469	-0.75;-0.68;-0.62;-0.52;-0.67	4.91	3.03	0.35002	.	0.326617	0.22077	N	0.064943	T	0.58722	0.2142	L	0.29908	0.895	0.36848	D	0.887742	B;B;B;P	0.35107	0.255;0.255;0.008;0.484	B;B;B;B	0.33254	0.071;0.071;0.005;0.16	T	0.57148	-0.7861	10	0.34782	T	0.22	-2.2513	8.4	0.32581	0.0827:0.1553:0.762:0.0	.	208;181;96;96	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	T	233;181;96;96;3;208;77	ENSP00000449273:A233T;ENSP00000431323:A181T;ENSP00000394487:A96T;ENSP00000446695:A3T;ENSP00000433666:A208T	ENSP00000379089:A96T	A	+	1	0	FGD4	32626354	0.051000	0.20477	0.005000	0.12908	0.899000	0.52679	0.760000	0.26475	0.459000	0.27016	0.467000	0.42956	GCA		0.473	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		5	390	0	0	0	1	0	5	390					A	32735087	G	A	32735087	3	1	45	1	0	0	0	0	1	0	0	0	5860	971	34	2	292	2	FGD4	12	32735087	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	7354812	32735087	101116808	96	5335											
DAZAP2	9802	broad.mit.edu	37	chr12	51636190	51636190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtcctcgtaactcagcGgaaggggaacttcttcatgg	11	11	3	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:51636190G>A	ENST00000412716.3	+	4	1071	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	DAZAP2_ENST00000439799.2_Missense_Mutation_p.R70Q|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000449723.3_Missense_Mutation_p.R130Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.R120Q|DAZAP2_ENST00000549555.1_Silent_p.A126A|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_Missense_Mutation_p.R92Q			Q15038	DAZP2_HUMAN	DAZ associated protein 2	152						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GTAACTCAGCGGAAGGGGAAC	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(454-456)cGg>cAg		DAZ associated protein 2							247	213	224					12																	51636190		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636190G>A	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.455G>A	12.37:g.51636190G>A	ENSP00000394699:p.Arg152Gln					DAZAP2_ENST00000551313.1_Missense_Mutation_p.R92Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549555.1_Silent_p.A126A|DAZAP2_ENST00000449723.3_Missense_Mutation_p.R130Q|DAZAP2_ENST00000439799.2_Missense_Mutation_p.R70Q|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Missense_Mutation_p.R120Q	p.R152Q			Q15038	DAZP2_HUMAN			4	1071	+			152					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.455G>A	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749347	0.69533	.	.	ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.47716	1.5	0.54753	D	0.999989	D;D;P	0.65815	0.995;0.992;0.929	D;P;B	0.76575	0.988;0.857;0.159	T	0.63400	-0.6646	10	0.56958	D	0.05	-12.9467	18.4195	0.90584	0.0:0.0:1.0:0.0	.	120;70;152	C9JP84;C9JA96;Q15038	.;.;DAZP2_HUMAN	Q	152;70;120;130;92	ENSP00000394699:R152Q;ENSP00000398804:R70Q;ENSP00000446554:R120Q;ENSP00000412812:R130Q;ENSP00000447842:R92Q	ENSP00000394699:R152Q	R	+	2	0	DAZAP2	49922457	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.795000	0.91872	2.726000	0.93360	0.655000	0.94253	CGG		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		7	872	0	0	0	1	0	7	872					A	51636190	G	A	51636190	3	1	45	1	0	0	0	0	1	0	0	0	4256	1116	39	1	469	1	DAZAP2	12	51636190	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	18901103	51636190	82215705	97	5336											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	939	0	0	0	1	0	9	939					A	57111705	G	A	57111705	2	1	45	1	0	0	0	0	0	0	0	1	10174	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5475515	57111705	76740190	98	5337											
RBM19	9904	broad.mit.edu	37	chr12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctgaaggccttgCgggcctccaggggctccagg	15	14	0	2	rs201979395		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47	53	51		1907,1907,1907	2.4	1	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His					RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		636			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1907G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		8	532	0	0	0	1	0	8	532					T	114377796	C	T	114377796	3	4	45	1	0	0	0	0	1	0	0	0	13171	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	57266091	114377796	19474099	99	5338											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs533073686	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	902	0	0	0	1	0	8	902					C	125397652	T	C	125397652	2	2	45	1	0	0	0	0	0	0	0	1	16896	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	11019856	125397652	8454243	100	5339											
METT11D1	64745	broad.mit.edu	37	chr14	21464862	21464862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcacagcccgccgGcacggcaggtatggggggtg	18	12	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	METTL17_ENST00000382985.4_Silent_p.R419R|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R419R|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1255-1257)cgG>cgA		methyltransferase like 17							88	85	86					14																	21464862		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464862G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A						RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R	p.R419R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1490	+			419					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.1257G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		6	463	0	0	0	1	0	6	463					A	21464862	G	A	21464862	2	1	45	1	0	0	0	0	0	0	0	1	9532	1190	42	2		2	METT11D1	14	21464862	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		21464862	85884678	101	5340											
G2E3	55632	broad.mit.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A													tagagttaggattccaaattINSaaaaaaaaaactaaaagatt							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		7	132						7	132	---	---	---	---	A	31074772	-	A	31074771	7	5	45	1	0	1	1	0	0	0	0	0	6167	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	9609909	31074771	76274769	102	5341											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	202						7	202	---	---	---	---	-	93397926	GAG	-	93397924	7	5	45	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-FB-A5VM-01A-11D-A32N-08	62323153	93397924	13951616	103	5342											
PACS2	23241	broad.mit.edu	37	chr14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-													acagacctggccctgaccttCtccttgcaggtgagtctttc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(286-291)ttc>tt		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818795_105818797delCTC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.288_290delCTC	14.37:g.105818795_105818797delCTC	ENSP00000321834:p.Ser97del		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_In_Frame_Del_p.FS96del|PACS2_ENST00000430725.2_In_Frame_Del_p.FS29del|PACS2_ENST00000325438.8_In_Frame_Del_p.FS96del	p.FS96del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	463_465	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	96					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	37	c.288_290delCTC	CCDS32168.1																																																																																				0.616	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		87	375						87	375	---	---	---	---	-	105818797	CTC	-	105818795	7	5	45	1	0	1	0	1	0	0	0	0	11415	912	32	0	298	0	PACS2	14	105818795	In_Frame_Del	DEL	CTC	TCGA-FB-A5VM-01A-11D-A32N-08	12420871	105818795	1530745	104	5343											
HERC2	8924	broad.mit.edu	37	chr15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagctgccagcgaggccGcaaggcgagggacgatgctt	15	12	0	0	rs575646071		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:28389261G>A	ENST00000261609.7	-	73	11369	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAGCGAGGCCGCAAGGCGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.001					ENST00000261609.7																			0				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						c.(11260-11262)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							112	100	104					15																	28389261		2203	4300	6503	SO:0001583	missense	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.chr15:28389261G>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.11261C>T	15.37:g.28389261G>A	ENSP00000261609:p.Ala3754Val						p.A3754V	NM_004667.5	NP_004658.3	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)	73	11369	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3754						Missense_Mutation	SNP	ENST00000261609.7	37	c.11261C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506069	0.85282	.	.	ENSG00000128731	ENST00000261609	T	0.43688	0.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.45137	1.4	0.80722	D	1	D	0.57899	0.981	P	0.45377	0.478	T	0.36138	-0.9760	10	0.49607	T	0.09	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3754	O95714	HERC2_HUMAN	V	3754	ENSP00000261609:A3754V	ENSP00000261609:A3754V	A	-	2	0	HERC2	26062856	1.000000	0.71417	0.298000	0.25002	0.539000	0.34962	9.420000	0.97426	2.783000	0.95769	0.655000	0.94253	GCG		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	483	0	0	0	1	0	5	483					A	28389261	G	A	28389261	3	1	45	1	0	0	0	0	1	0	0	0	7088	1087	38	1	3327	1	HERC2	15	28389261	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		28389261	74142131	105	5344											
RASGRP1	10125	broad.mit.edu	37	chr15	38791143	38791143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgacagttcatcccGcagtctgtggacaagacatc	10	10	2	2	rs374227836		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1723-1725)tgC>tgT		RAS guanyl releasing protein 1 (calcium and DAG-regulated)		G	,	0,3850		0,0,1925	260	251	254		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A						RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Silent_p.C527C	p.C575C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	1902	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		8	994	0	0	0	1	0	8	994					A	38791143	G	A	38791143	2	1	45	1	0	0	0	0	0	0	0	1	13124	1079	38	1		1	RASGRP1	15	38791143	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	10401882	38791143	63740249	106	5345											
ALPK3	57538	broad.mit.edu	37	chr15	85400266	85400267	+	Frame_Shift_Ins	INS	-	-	A													ccagaagggtcttgtttcccINSaaaaaaacctggttgcctgc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:85400266_85400267insA	ENST00000258888.5	+	6	3070_3071	c.2903_2904insA	c.(2902-2907)ccaaaafs	p.PK968fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	968					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGTTTCCCAAAAAAACCTG	0.54																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2902-2904)caafs		alpha-kinase 3																																				SO:0001589	frameshift_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400266_85400267insA	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2910dupA	15.37:g.85400273_85400273dupA	ENSP00000258888:p.Pro968fs						p.Q968fs	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3070_3071	+			968					Q9P2L6	Frame_Shift_Ins	INS	ENST00000258888.5	37	c.2903_2904insA	CCDS10333.1																																																																																				0.54	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	763						8	763	---	---	---	---	A	85400267	-	A	85400266	7	5	45	1	0	1	1	0	0	0	0	0	546	594	21	0	2925	0	ALPK3	15	85400266	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	46609123	85400266	17131126	107	5346											
RGMA	56963	broad.mit.edu	37	chr15	93595475	93595475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctggctgtctccggcCggtgggagcgtgcgcaggcg	18	14	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.P115P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(391-393)ccG>ccA		repulsive guidance molecule family member a							38	47	44					15																	93595475		2190	4294	6484	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595475C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.393G>A	15.37:g.93595475C>T						RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000425933.2_Silent_p.P115P	p.P131P	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	664	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		131					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.393G>A	CCDS45357.1																																																																																				0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		45	325	0	0	0	1	0	45	325					T	93595475	C	T	93595475	2	4	45	1	0	0	0	0	0	0	0	1	13330	639	23	1		1	RGMA	15	93595475	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	8195209	93595475	8935917	108	5347											
FLYWCH1	84256	broad.mit.edu	37	chr16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgagagtgtgaaggccGgccaggagccatcccccaag	16	12	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(49-51)Ggc>Agc		FLYWCH-type zinc finger 1							37	44	41					16																	2979735		2198	4299	6497	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2979735G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.49G>A	16.37:g.2979735G>A	ENSP00000253928:p.Gly17Ser					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.G17S	p.G17S			Q4VC44	FWCH1_HUMAN			3	412	+			17					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	FLYWCH1	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	124	0	0	0	1	0	4	124					A	2979735	G	A	2979735	3	1	45	1	0	0	0	0	1	0	0	0	5972	1116	39	1	51	1	FLYWCH1	16	2979735	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		2979735	87375018	109	5348											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		8	961	0	0	0	1	0	8	961					T	3293588	C	T	3293588	2	4	45	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	313853	3293588	87061165	110	5349											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	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.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	332						8	332	---	---	---	---	-	29994533	GAG	-	29994531	7	5	45	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-FB-A5VM-01A-11D-A32N-08	26700943	29994531	60360222	111	5350											
SEPHS2	22928	broad.mit.edu	37	chr16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtcaatgatccgggccGttcggtttcccttttccaca	9	13	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1237-1239)aCg>aTg		selenophosphate synthetase 2							71	74	73					16																	30455811		1990	4148	6138	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455811G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1238C>T	16.37:g.30455811G>A	ENSP00000418669:p.Thr413Met					SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M	p.T413M			Q99611	SPS2_HUMAN			1	1691	-			413					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1238C>T		.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	SEPHS2	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG		0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	356	0	0	0	1	0	5	356					A	30455811	G	A	30455811	3	1	45	1	0	0	0	0	1	0	0	0	14105	1145	40	1	112	1	SEPHS2	16	30455811	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	461280	30455811	59898942	112	5351											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	337						10	337	---	---	---	---	-	30982811	TCC	-	30982809	7	5	45	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-FB-A5VM-01A-11D-A32N-08	526998	30982809	59371944	113	5352											
PHKB	5257	broad.mit.edu	37	chr16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgattattttcgacctaagtGatttctacatgtctcaggat	7	8	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000323584.5	+	18	1774	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1729-1731)Gat>Aat		phosphorylase kinase, beta							171	160	164					16																	47683068		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47683068G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1750G>A	16.37:g.47683068G>A	ENSP00000313504:p.Asp584Asn					PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N	p.D577N			Q93100	KPBB_HUMAN			19	1914	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	584					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1729G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	PHKB	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT		0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			53	338	0	0	0	1	0	53	338					A	47683068	G	A	47683068	3	1	45	1	0	0	0	0	1	0	0	0	11887	1290	45	2	1879	2	PHKB	16	47683068	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16700259	47683068	42671685	114	5353											
PARD6A	50855	broad.mit.edu	37	chr16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgcctgagacccacCgacgggtgcggctgcacaag	12	15	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000219255.3	+	3	546	c.466C>T	c.(466-468)Cga>Tga	p.R156*	PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42. {ECO:0000250}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647																																						ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(463-465)Cga>Tga		par-6 family cell polarity regulator alpha							64	67	66					16																	67695975		2198	4300	6498	SO:0001587	stop_gained	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695975C>T		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"par-6 (partitioning defective 6, C.elegans) homolog alpha", "par-6 partitioning defective 6 homolog alpha (C. elegans)"			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.466C>T	16.37:g.67695975C>T	ENSP00000219255:p.Arg156*					PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*	p.R155*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	554	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	156			Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Nonsense_Mutation	SNP	ENST00000219255.3	37	c.463C>T	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	PARD6A	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA		0.647	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		62	416	0	0	0	1	0	62	416					T	67695975	C	T	67695975	4	4	45	1	0	0	0	0	0	1	0	0	11487	644	23	1	476	1	PARD6A	16	67695975	Nonsense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	20012907	67695975	22658778	115	5354											
EDC4	23644	broad.mit.edu	37	chr16	67913803	67913803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagcagcagcagCagtagcagcagctcccttac	12	13	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36	33	34					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1872C>T	16.37:g.67913803C>T							p.S624S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	325	0	0	0	1	0	6	325					T	67913803	C	T	67913803	2	4	45	1	0	0	0	0	0	0	0	1	4924	709	25	2		2	EDC4	16	67913803	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	217828	67913803	22440950	116	5355											
PMFBP1	83449	broad.mit.edu	37	chr16	72159998	72159998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgtccagctgggcctGcaggctcattaaggactcct	11	12	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:72159998G>A	ENST00000237353.10	-	15	2383	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.Q713*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000537792.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	713						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGGGCCTGCAGGCTCATT	0.527																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2137-2139)Cag>Tag		polyamine modulated factor 1 binding protein 1							172	167	168					16																	72159998		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72159998G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2122C>T	16.37:g.72159998G>A	ENSP00000237353:p.Gln708*					PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708*	p.Q713*			Q8TBY8	PMFBP_HUMAN			15	2295	-		Ovarian(137;0.179)	713					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000237353.10	37	c.2137C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	38	6.764837	0.97821	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	3.65	0.376	0.16193	.	0.562263	0.15003	N	0.286009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-8.2085	6.0918	0.19999	0.0:0.1753:0.4053:0.4194	.	.	.	.	X	713;708;563	.	ENSP00000237353:Q708X	Q	-	1	0	PMFBP1	70717499	0.865000	0.29922	0.202000	0.23494	0.018000	0.09664	0.360000	0.20250	0.113000	0.18004	-0.172000	0.13284	CAG		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		9	896	0	0	0	1	0	9	896					A	72159998	G	A	72159998	4	1	45	1	0	0	0	0	0	1	0	0	12176	1328	46	2	989	2	PMFBP1	16	72159998	Nonsense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4246195	72159998	18194755	117	5356											
WSCD1	23302	broad.mit.edu	37	chr17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccagaagtttctccgccGaacacagttcctgctgttct	7	14	2	1	rs148296936	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(40-42)cGa>cAa		WSC domain containing 1			GLN/ARG	0,4246		0,0,2123	41	40	40		41	4.8	1	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG		0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984019G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	17.37:g.5984019G>A	ENSP00000460825:p.Arg14Gln					WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron	p.R14Q			Q658N2	WSCD1_HUMAN			2	431	+			14					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.41G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA		0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		4	224	0	0	0	1	0	4	224					A	5984019	G	A	5984019	3	1	45	1	0	0	0	0	1	0	0	0	17460	1058	37	1	43	1	WSCD1	17	5984019	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		5984019	75211191	118	5357											
TP53	7157	broad.mit.edu	37	chr17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-													tccattgcttgggacggcaaGggggactgtagatgggtgaa					rs11575998		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:7579585delG	ENST00000269305.4	-	4	291	c.102delC	c.(100-102)cccfs	p.P34fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs	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	34	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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)	GGGACGGCAAGGGGGACTGTA	0.597		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)	ENST00000420246.2		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"		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Insertion - Frameshift(1)	p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(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						c.(100-102)ccfs	Other conserved DNA damage response genes	tumor protein p53							148	144	145					17																	7579585		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579585delG	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.102delC	17.37:g.7579585delG	ENSP00000269305:p.Pro34fs	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_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs	p.P34fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	234	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	34		P -> L (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Transcription activation (acidic).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.102delC	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		144	826						144	826	---	---	---	---	-	7579585	G	-	7579585	7	5	45	1	0	1	0	1	0	0	0	0	16434	987	35	0	1200	0	TP53	17	7579585	Frame_Shift_Del	DEL	G	TCGA-FB-A5VM-01A-11D-A32N-08	1595566	7579585	73615625	119	5358											
LLGL1	3996	broad.mit.edu	37	chr17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgagggctgctgctgaCggggtaggtgtgcgtgctta	18	8	0	1	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1348-1350)aCg>aTg		lethal giant larvae homolog 1 (Drosophila)		C	MET/THR	0,4406		0,0,2203	93	80	84		1349	5	1	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	LLGL1	NM_004140.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	450/1065	18138848	1,13005	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138848C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1349C>T	17.37:g.18138848C>T	ENSP00000321537:p.Thr450Met						p.T450M	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			11	1445	+	all_neural(463;0.228)		450					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1349C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	LLGL1	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	245	0	0	0	1	0	4	245					T	18138848	C	T	18138848	3	4	45	1	0	0	0	0	1	0	0	0	8866	536	19	1	1391	1	LLGL1	17	18138848	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	10559263	18138848	63056362	120	5359											
KIAA0100	9703	broad.mit.edu	37	chr17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatcgccaaatcatttgCgcctgccaaagatggacttc	8	12	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SGK494_ENST00000469832.3_5'Flank|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6700-6702)cGc>cAc		KIAA0100							244	240	242					17																	26942089		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942089C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6701G>A	17.37:g.26942089C>T	ENSP00000436773:p.Arg2234His					KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000424210.1_RNA	p.R2234H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			39	6775	-	Lung NSC(42;0.00431)		2234					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6701G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	1334	0	0	0	1	0	8	1334					T	26942089	C	T	26942089	3	4	45	1	0	0	0	0	1	0	0	0	8184	768	27	1	10	1	KIAA0100	17	26942089	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	8803241	26942089	54253121	121	5360											
TAOK1	57551	broad.mit.edu	37	chr17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttggctctgcttccAtggcatcacctgccaattcc	7	15	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGCTTCCATGGCATCACC	0.418																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(523-525)Atg>Ttg		TAO kinase 1							106	92	96					17																	27807459		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27807459A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.523A>T	17.37:g.27807459A>T	ENSP00000261716:p.Met175Leu					TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		7	1042	+			175			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.523A>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610191	0.46527	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.63417	-0.04;-0.04	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.39226	0.1070	N	0.02973	-0.45	0.42825	D	0.994006	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.27640	-1.0068	10	0.31617	T	0.26	.	15.3559	0.74425	1.0:0.0:0.0:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	175	ENSP00000261716:M175L;ENSP00000438819:M175L	ENSP00000261716:M175L	M	+	1	0	TAOK1	24831585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.169000	0.77578	2.100000	0.63781	0.477000	0.44152	ATG		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		4	169	0	0	0	1	0	4	169					T	27807459	A	T	27807459	3	4	45	1	0	0	0	0	1	0	0	0	15599	217	8	5	545	5	TAOK1	17	27807459	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	865370	27807459	53387751	122	5361											
AMAC1	146861	broad.mit.edu	37	chr17	33520509	33520509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgggccttggtgaccGcatagcccacacatgtgaag	14	11	0	2	rs550720367	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:33520509G>A	ENST00000297307.5	-	1	903	c.818C>T	c.(817-819)gCg>gTg	p.A273V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											CTTGGTGACCGCATAGCCCAC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		19324	0.002		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G3							150	137	141					17																	33520509		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33520509G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.818C>T	17.37:g.33520509G>A	ENSP00000297307:p.Ala273Val						p.A273V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	903	-			273			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.818C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521075	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.62245	0.2412	L	0.34521	1.04	0.46416	D	0.999039	B	0.18863	0.031	B	0.14578	0.011	T	0.51872	-0.8650	9	0.56958	D	0.05	-6.6496	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	273	Q8N808	S35G3_HUMAN	V	273	ENSP00000297307:A273V	ENSP00000297307:A273V	A	-	2	0	SLC35G3	30544622	1.000000	0.71417	0.143000	0.22291	0.144000	0.21451	2.821000	0.48065	0.064000	0.16427	0.064000	0.15345	GCG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	796	0	0	0	1	0	7	796					A	33520509	G	A	33520509	3	1	45	1	0	0	0	0	1	0	0	0	559	1087	38	1	202	1	AMAC1	17	33520509	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5713050	33520509	47674701	123	5362											
AMAC1	146861	broad.mit.edu	37	chr17	33520540	33520540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgaaggagaccaaggCgaggatccccactgccccca	11	14	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:33520540C>T	ENST00000297307.5	-	1	872	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	263						integral component of membrane (GO:0016021)		p.A263T(1)									GAGACCAAGGCGAGGATCCCC	0.627																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.A263T(1)	breast(1)								c.(787-789)Gcc>Acc		solute carrier family 35, member G3							122	111	115					17																	33520540		2203	4296	6499	SO:0001583	missense	146861					integral to membrane		g.chr17:33520540C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.787G>A	17.37:g.33520540C>T	ENSP00000297307:p.Ala263Thr						p.A263T	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	872	-			263					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.787G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627836	0.14257	.	.	ENSG00000164729	ENST00000297307	T	0.67171	-0.25	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.50599	0.1625	L	0.51422	1.61	0.31569	N	0.656615	B	0.18863	0.031	B	0.14578	0.011	T	0.38672	-0.9650	9	0.31617	T	0.26	-2.6207	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	263	Q8N808	S35G3_HUMAN	T	263	ENSP00000297307:A263T	ENSP00000297307:A263T	A	-	1	0	SLC35G3	30544653	0.996000	0.38824	0.256000	0.24389	0.257000	0.26127	0.721000	0.25911	0.064000	0.16427	0.064000	0.15345	GCC		0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	663	0	0	0	1	0	7	663					T	33520540	C	T	33520540	3	4	45	1	0	0	0	0	1	0	0	0	559	768	27	1	233	1	AMAC1	17	33520540	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	31	33520540	47674670	124	5363											
FBXL20	84961	broad.mit.edu	37	chr17	37420484	37420484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcatagagttctatccGctcaaggctatgacagctct	9	11	4	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:37420484G>A	ENST00000264658.6	-	14	1407	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W|FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	383					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.R383W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCTATCCGCTCAAGGCTA	0.512																																						ENST00000264658.6																			1	Substitution - Missense(1)	p.R383W(1)	large_intestine(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1147-1149)Cgg>Tgg		F-box and leucine-rich repeat protein 20							155	136	142					17																	37420484		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37420484G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1147C>T	17.37:g.37420484G>A	ENSP00000264658:p.Arg383Trp					FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W	p.R383W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1407	-			383					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.1147C>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856694	0.71834	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12361	2.69;2.69	5.9	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.34800	-0.9814	10	0.72032	D	0.01	.	9.363	0.38208	0.0748:0.0:0.4229:0.5023	.	351;383	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	W	383;351	ENSP00000264658:R383W;ENSP00000377832:R351W	ENSP00000264658:R383W	R	-	1	2	FBXL20	34674010	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	3.486000	0.53215	0.362000	0.24319	-0.251000	0.11542	CGG		0.512	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		7	608	0	0	0	1	0	7	608					A	37420484	G	A	37420484	3	1	45	1	0	0	0	0	1	0	0	0	5742	1086	38	1	171	1	FBXL20	17	37420484	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	3899944	37420484	43774726	125	5364											
KRT25	147183	broad.mit.edu	37	chr17	38910225	38910225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcttcgtaacccattgaCatcagcctctacactctggt	5	14	4	1	rs531531024		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:38910225C>A	ENST00000312150.4	-	3	616	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AACCCATTGACATCAGCCTCT	0.408																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(556-558)Gtc>Ttc		keratin 25							127	117	120					17																	38910225		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910225C>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.556G>T	17.37:g.38910225C>A	ENSP00000310573:p.Val186Phe						p.V186F	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			3	616	-		Breast(137;0.00526)	186			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.556G>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439949	0.83885	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89050	-2.46	5.92	5.92	0.95590	Filament (1);	0.000000	0.64402	D	0.000020	D	0.89427	0.6712	L	0.55990	1.75	0.45914	D	0.998753	P	0.44690	0.841	P	0.52267	0.694	D	0.89193	0.3552	10	0.87932	D	0	.	7.7797	0.29058	0.0:0.81:0.0:0.19	.	186	Q7Z3Z0	K1C25_HUMAN	F	186	ENSP00000310573:V186F	ENSP00000310573:V186F	V	-	1	0	KRT25	36163751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.793000	0.55484	2.803000	0.96430	0.591000	0.81541	GTC		0.408	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		6	439	1	0	0.217242	1	0.217242	6	439					A	38910225	C	A	38910225	3	1	45	1	0	0	0	0	1	0	0	0	8492	478	17	3	820	3	KRT25	17	38910225	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	1489741	38910225	42284985	126	5365											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389179	39389179	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaccacctgctgcaggacCacttgtttccagcccacctg	9	16	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(424-426)acC>acA		keratin associated protein 9-3							132	164	153					17																	39389179		2105	4300	6405	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39389179C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A							p.T142T	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	465	+		Breast(137;0.000496)	142			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.426C>A	CCDS11385.1																																																																																				0.567	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			7	812	1	0	3.41278e-10	1	3.66212e-10	7	812					A	39389179	C	A	39389179	2	1	45	1	0	0	0	0	0	0	0	1	8605	581	21	3		3	KRTAP9-3	17	39389179	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	478954	39389179	41806031	127	5366											
XYLT2	64132	broad.mit.edu	37	chr17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtggttcacggccgcGccatccgccagctgaagcgt	14	14	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	244					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCACGGCCGCGCCATCCGCCA	0.612																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(730-732)Gcc>Acc		xylosyltransferase II							44	43	44					17																	48431870		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431870G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.730G>A	17.37:g.48431870G>A	ENSP00000017003:p.Ala244Thr					XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	779	+	Breast(11;7.18e-19)		244					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.730G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813933	0.90790	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.31081	-0.9956	10	0.54805	T	0.06	-17.8105	17.6496	0.88159	0.0:0.0:1.0:0.0	.	244	Q9H1B5	XYLT2_HUMAN	T	244	ENSP00000017003:A244T;ENSP00000426501:A244T	ENSP00000017003:A244T	A	+	1	0	XYLT2	45786869	1.000000	0.71417	0.919000	0.36401	0.568000	0.35870	9.411000	0.97342	2.403000	0.81681	0.313000	0.20887	GCC		0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	226	0	0	0	1	0	5	226					A	48431870	G	A	48431870	3	1	45	1	0	0	0	0	1	0	0	0	17518	1087	38	1	740	1	XYLT2	17	48431870	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	9042691	48431870	32763340	128	5367											
ABCC3	8714	broad.mit.edu	37	chr17	48753771	48753771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccacaccatcaggccGcatcctgaactgcttctcca	6	17	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48753771G>A	ENST00000285238.8	+	23	3280	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1067	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCATCAGGCCGCATCCTGAAC	0.557																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3199-3201)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						361	261	295					17																	48753771		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753771G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3200G>A	17.37:g.48753771G>A	ENSP00000285238:p.Arg1067His						p.R1067H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3280	+			1067			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3200G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484168	0.84854	.	.	ENSG00000108846	ENST00000285238	D	0.95103	-3.61	5.15	4.18	0.49190	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.059738	0.64402	D	0.000002	D	0.98128	0.9382	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99129	1.0852	10	0.87932	D	0	-11.9819	14.1106	0.65120	0.0733:0.0:0.9267:0.0	.	1067	O15438	MRP3_HUMAN	H	1067	ENSP00000285238:R1067H	ENSP00000285238:R1067H	R	+	2	0	ABCC3	46108770	1.000000	0.71417	0.861000	0.33841	0.756000	0.42949	7.885000	0.87282	1.292000	0.44672	0.609000	0.83330	CGC		0.557	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		7	1001	0	0	0	1	0	7	1001					A	48753771	G	A	48753771	3	1	45	1	0	0	0	0	1	0	0	0	54	1087	38	1	3374	1	ABCC3	17	48753771	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	321901	48753771	32441439	129	5368											
SPAG9	9043	broad.mit.edu	37	chr17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-													ccactcgggtctgtaagtccTttttttcctgttcttgagag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)aagfs	p.K115fs	RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(343-345)agfs		sperm associated antigen 9							133	131	132					17																	49157025		2203	4299	6502	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49157025delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.344delA	17.37:g.49157025delT	ENSP00000262013:p.Lys115fs					SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		2	552	-			115					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.344delA	CCDS45740.1																																																																																				0.313	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		9	479						9	479	---	---	---	---	-	49157025	T	-	49157025	7	5	45	1	0	1	0	1	0	0	0	0	15037	1609	56	0	3737	0	SPAG9	17	49157025	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	403254	49157025	32038185	130	5369											
ABCA10	10349	broad.mit.edu	37	chr17	67183986	67183986	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatctccagtatttcttgtCacatgtattttctcttgttt	4	9	5	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TATTTCTTGTCACATGTATTT	0.348																																						ENST00000269081.4																			0				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						c.(2164-2166)gtG>gtT		ATP-binding cassette, sub-family A (ABC1), member 10							153	145	147					17																	67183986		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67183986C>A	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.2166G>T	17.37:g.67183986C>A						ABCA10_ENST00000416101.2_3'UTR	p.V722V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			20	3075	-	Breast(10;6.95e-12)		722					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2166G>T	CCDS11684.1																																																																																				0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		29	177	1	0	1.74807e-11	1	1.89307e-11	29	177					A	67183986	C	A	67183986	2	1	45	1	0	0	0	0	0	0	0	1	29	813	29	3		3	ABCA10	17	67183986	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	18026961	67183986	14011224	131	5370											
GNAL	2774	broad.mit.edu	37	chr18	11868565	11868565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagctatcatttacgtcGcagcctgcagtagctacaac	7	13	2	0	rs186859429		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:11868565G>A	ENST00000423027.3	+	9	1024	c.703G>A	c.(703-705)Gca>Aca	p.A235T	GNAL_ENST00000602628.1_Missense_Mutation_p.A28T|GNAL_ENST00000535121.1_Missense_Mutation_p.A235T|GNAL_ENST00000334049.6_Missense_Mutation_p.A312T|GNAL_ENST00000269162.5_Missense_Mutation_p.A235T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	235					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CATTTACGTCGCAGCCTGCAG	0.468																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(934-936)Gca>Aca		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							172	147	156					18																	11868565		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11868565G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.703G>A	18.37:g.11868565G>A	ENSP00000408489:p.Ala235Thr					GNAL_ENST00000535121.1_Missense_Mutation_p.A235T|GNAL_ENST00000423027.3_Missense_Mutation_p.A235T|GNAL_ENST00000602628.1_Missense_Mutation_p.A28T|GNAL_ENST00000269162.5_Missense_Mutation_p.A235T|GNAL_ENST00000535980.1_3'UTR	p.A312T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			9	1542	+			235					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.934G>A	CCDS11852.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.73	3.204357	0.58234	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.91	5.91	0.95273	.	0.102632	0.64402	D	0.000002	D	0.84229	0.5426	N	0.16743	0.435	0.54753	D	0.999985	B;B	0.27997	0.197;0.042	B;B	0.32677	0.15;0.019	T	0.80388	-0.1403	10	0.46703	T	0.11	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	235;312	P38405;Q86XU3	GNAL_HUMAN;.	T	174;312;235;235;235;28	ENSP00000334051:A312T;ENSP00000439023:A235T;ENSP00000269162:A235T;ENSP00000408489:A235T	ENSP00000269162:A235T	A	+	1	0	GNAL	11858565	1.000000	0.71417	0.309000	0.25155	0.538000	0.34931	9.394000	0.97261	2.799000	0.96334	0.650000	0.86243	GCA		0.468	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		5	388	0	0	0	1	0	5	388					A	11868565	G	A	11868565	3	1	45	1	0	0	0	0	1	0	0	0	6536	1087	38	1	1117	1	GNAL	18	11868565	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		11868565	66208683	132	5371											
RBBP8	5932	broad.mit.edu	37	chr18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A													cttctcttttacagcctgggINSaaaaaaaaacatctgaaaac					rs200956310		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														ENST00000399722.2																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)	ovary(2)|central_nervous_system(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1060-1065)ggaaaafs	Homologous recombination	retinoblastoma binding protein 8																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs	p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1413_1414	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		8	374						8	374	---	---	---	---	A	20572853	-	A	20572852	7	5	45	1	0	1	1	0	0	0	0	0	13155	1161	41	0	1100	0	RBBP8	18	20572852	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	8704287	20572852	57504396	133	5372											
DSG4	147409	broad.mit.edu	37	chr18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggagcctcaggggccGcaaggaagaggagctctacc	15	13	2	1	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000308128.4	+	15	2401	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A775T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					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)			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)			ctcaggggccgcaAGGAAGAG	0.617																																						ENST00000359747.4																			0				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						c.(2323-2325)Gca>Aca		desmoglein 4							54	52	53					18																	28991322		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991322G>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.2266G>A	18.37:g.28991322G>A	ENSP00000311859:p.Ala756Thr					DSG4_ENST00000308128.4_Missense_Mutation_p.A756T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.A775T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2352	+			756					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2323G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	DSG4	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA		0.617	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		5	288	0	0	0	1	0	5	288					A	28991322	G	A	28991322	3	1	45	1	0	0	0	0	1	0	0	0	4795	1087	38	1	2445	1	DSG4	18	28991322	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	8418470	28991322	49085926	134	5373											
GALNT1	2589	broad.mit.edu	37	chr18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccagcagtggcttcttcGaaacgtcaccctgccagaaa	9	14	2	1	rs368892040		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1651-1653)cGa>cAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		G	GLN/ARG	0,4406		0,0,2203	63	60	61		1652	5.6	1	18		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT1	NM_020474.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	551/560	33289706	1,13005	2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33289706G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1652G>A	18.37:g.33289706G>A	ENSP00000269195:p.Arg551Gln					GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	p.R551Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			11	1755	+			551			Ricin B-type lectin.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.1652G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	GALNT1	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA		0.453	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		29	153	0	0	0	1	0	29	153					A	33289706	G	A	33289706	3	1	45	1	0	0	0	0	1	0	0	0	6235	1058	37	1	1694	1	GALNT1	18	33289706	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4298384	33289706	44787542	135	5374											
SH2D3A	10045	broad.mit.edu	37	chr19	6755180	6755180	+	Frame_Shift_Del	DEL	G	G	-													cagttcgaaggagggtgtccGggggggcttcgttggtgcct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:6755180delG	ENST00000245908.6	-	5	912	c.643delC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Del_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GAGGGTGTCCGGGGGGGCTTC	0.657																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)ggfs		SH2 domain containing 3A							97	110	106					19																	6755180		2203	4300	6503	SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755180delG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.643delC	19.37:g.6755180delG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Del_p.R93fs	p.R215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Del	DEL	ENST00000245908.6	37	c.643delC	CCDS12173.1																																																																																				0.657	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	1339						7	1339	---	---	---	---	-	6755180	G	-	6755180	7	5	45	1	0	1	0	1	0	0	0	0	14283	1115	39	0	1111	0	SH2D3A	19	6755180	Frame_Shift_Del	DEL	G	TCGA-FB-A5VM-01A-11D-A32N-08		6755180	52373803	136	5375											
COL5A3	50509	broad.mit.edu	37	chr19	10071228	10071228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggtcttcgtctgtcctttCcggagctgtccccagagaag	12	12	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(5095-5097)cgG>cgA		collagen, type V, alpha 3							93	101	98					19																	10071228		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071228C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5097G>A	19.37:g.10071228C>T							p.R1699R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5182	-			1699			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.5097G>A	CCDS12222.1																																																																																				0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		95	548	0	0	0	1	0	95	548					T	10071228	C	T	10071228	2	4	45	1	0	0	0	0	0	0	0	1	3707	842	30	2		2	COL5A3	19	10071228	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	3316048	10071228	49057755	137	5376											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	868	0	0	0	1	0	5	868					C	12155673	A	C	12155673	3	2	45	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	2084445	12155673	46973310	138	5377											
SNRPA	6626	broad.mit.edu	37	chr19	41268935	41268935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccaccaggggccatgCccccgcagcagcttatgcca	10	17	0	1	rs374666711		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:41268935C>T	ENST00000243563.3	+	4	1106	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	186	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGGGCCATGCCCCCGCAGCA	0.612																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(556-558)Ccc>Tcc		small nuclear ribonucleoprotein polypeptide A		C	SER/PRO	0,4406		0,0,2203	25	27	27		556	4.4	1	19		27	1,8599		0,1,4299	no	missense	SNRPA	NM_004596.4	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/283	41268935	1,13005	2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268935C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.556C>T	19.37:g.41268935C>T	ENSP00000243563:p.Pro186Ser						p.P186S	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1106	+			186			Pro-rich.			Missense_Mutation	SNP	ENST00000243563.3	37	c.556C>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661899	0.67700	0.0	1.16E-4	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.27557	1.66	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000014	T	0.45637	0.1352	L	0.60455	1.87	0.40094	D	0.976284	D	0.57571	0.98	P	0.59424	0.857	T	0.39231	-0.9624	10	0.37606	T	0.19	-16.183	12.9433	0.58359	0.0:0.9199:0.0:0.0801	.	186	P09012	SNRPA_HUMAN	S	186;107	ENSP00000243563:P186S	ENSP00000243563:P186S	P	+	1	0	SNRPA	45960775	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.516000	0.53436	1.284000	0.44531	0.655000	0.94253	CCC		0.612	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		5	254	0	0	0	1	0	5	254					T	41268935	C	T	41268935	3	4	45	1	0	0	0	0	1	0	0	0	14909	739	26	2	570	2	SNRPA	19	41268935	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	29113262	41268935	17860048	139	5378											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	795						7	795	---	---	---	---	-	42753151	GAA	-	42753149	7	5	45	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-FB-A5VM-01A-11D-A32N-08	1484214	42753149	16375834	140	5379											
CIC	23152	broad.mit.edu	37	chr19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgccttccaggcccgctAtgcagacatctttccctcca	7	18	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000575354.2	+	20	4530	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7207-7209)tAt>tGt		capicua transcriptional repressor							65	67	66					19																	42799006		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799006A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4490A>G	19.37:g.42799006A>G	ENSP00000458663:p.Tyr1497Cys					CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C	p.Y2403C			Q96RK0	CIC_HUMAN			21	7276	+		Prostate(69;0.00682)	1497					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7208A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	CIC	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT		0.587	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			55	486	0	0	0	1	0	55	486					G	42799006	A	G	42799006	3	3	45	1	0	0	0	0	1	0	0	0	3433	449	16	4	4568	4	CIC	19	42799006	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	45857	42799006	16329977	141	5380											
LIPE	3991	broad.mit.edu	37	chr19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctgcaggaatggccGgatggcaggcgtgaactgtg	18	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627																																						ENST00000244289.4																			1	Substitution - Missense(1)	p.R479W(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1435-1437)Cgg>Tgg		lipase, hormone-sensitive							146	134	138					19																	42912459		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912459G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp					LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.R479W	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1711	-		Prostate(69;0.00682)	479					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1435C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		5	608	0	0	0	1	0	5	608					A	42912459	G	A	42912459	3	1	45	1	0	0	0	0	1	0	0	0	8854	1115	39	1	1827	1	LIPE	19	42912459	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	113453	42912459	16216524	142	5381											
KCNN4	3783	broad.mit.edu	37	chr19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacctggacctctttggcatGaaaggccacgatgaggcaga	12	10	1	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(238-240)Cat>Gat		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						82	71	75					19																	44280710		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44280710G>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.238C>G	19.37:g.44280710G>C	ENSP00000262888:p.His80Asp						p.H80D	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			2	633	-		Prostate(69;0.0352)	80					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.238C>G	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	KCNN4|KCNN4	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA		0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		32	225	0	0	0	1	0	32	225					C	44280710	G	C	44280710	3	2	45	1	0	0	0	0	1	0	0	0	8111	1290	45	5	1073	5	KCNN4	19	44280710	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1368251	44280710	14848273	143	5382											
ZNF470	388566	broad.mit.edu	37	chr19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA													tattgattgtgggaaggcttINStcactgatcacataggactt							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAGGCTTTCACTGATCAC	0.426																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1216-1218)cac>TAAcac		zinc finger protein 470																																				SO:0001652	inframe_insertion	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089013_57089014insTAA	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		Exception_encountered	19.37:g.57089013_57089014insTAA	ENSP00000333223:p.Phe406delinsLeuIle					ZNF470_ENST00000391709.3_In_Frame_Ins_p.405_406ins*|ZNF470_ENST00000601902.1_Intron	p.405_406ins*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1902_1903	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	405					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	In_Frame_Ins	INS	ENST00000330619.8	37	c.1216_1217insTAA	CCDS33122.1																																																																																				0.426	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		30	390						30	390	---	---	---	---	TAA	57089014	-	TAA	57089013	7	5	45	1	0	1	1	0	0	0	0	0	17982	1841	64	0	1230	0	ZNF470	19	57089013	In_Frame_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	12808303	57089013	2039970	144	5383											
PEG3	5178	broad.mit.edu	37	chr19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-													atcccccgccggtgggttgaTtttttggcttcaggcatagt					rs143368073		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57328919delT	ENST00000326441.9	-	10	1254	c.891delA	c.(889-891)aaafs	p.K297fs	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.K171fs|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.K173fs|PEG3_ENST00000423103.2_Frame_Shift_Del_p.K297fs|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	297					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)			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)		GGTGGGTTGATTTTTTGGCTT	0.468																																						ENST00000326441.9																			0				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						c.(889-891)aafs		paternally expressed 3							46	54	51					19																	57328919		2203	4295	6498	SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328919delT	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.891delA	19.37:g.57328919delT	ENSP00000326581:p.Lys297fs					ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.K173fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.K171fs|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.K297fs	p.K297fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1254	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	297					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.891delA	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			7	507						7	507	---	---	---	---	-	57328919	T	-	57328919	7	5	45	1	0	1	0	1	0	0	0	0	11762	1490	52	0	3879	0	PEG3	19	57328919	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	239906	57328919	1800064	145	5384											
TRIB3	57761	broad.mit.edu	37	chr20	372045	372045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacccagctcctctacgccTttttcactcggacccatggg	8	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:372045T>C	ENST00000217233.3	+	3	959	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	136	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)			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)		CCTCTACGCCTTTTTCACTCG	0.672																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(406-408)Ttt>Ctt		tribbles pseudokinase 3							46	41	43					20																	372045		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372045T>C	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.406T>C	20.37:g.372045T>C	ENSP00000217233:p.Phe136Leu					TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	p.F136L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	959	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	136			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.406T>C	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243577	0.39697	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.18657	2.2;2.26;2.2	5.24	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132959	0.35179	N	0.003396	T	0.17619	0.0423	L	0.42744	1.35	0.43122	D	0.994847	P;B	0.36753	0.568;0.414	B;B	0.33690	0.168;0.168	T	0.02975	-1.1087	10	0.52906	T	0.07	-8.7089	10.5208	0.44918	0.0:0.0:0.1628:0.8372	.	163;136	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	136;136;163	ENSP00000217233:F136L;ENSP00000391873:F136L;ENSP00000415416:F163L	ENSP00000217233:F136L	F	+	1	0	TRIB3	320045	1.000000	0.71417	0.782000	0.31804	0.224000	0.24922	4.099000	0.57755	0.984000	0.38629	0.459000	0.35465	TTT		0.672	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		4	284	0	0	0	1	0	4	284					C	372045	T	C	372045	3	2	45	1	0	0	0	0	1	0	0	0	16537	1609	56	4	412	4	TRIB3	20	372045	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		372045	62653475	146	5385											
LRRN4	164312	broad.mit.edu	37	chr20	6021941	6021941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttggccgccagcacGcacacgcggtaggtggtgcc	15	15	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1948-1950)tgC>tgT		leucine rich repeat neuronal 4							16	16	16					20																	6021941		2186	4273	6459	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6021941G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1950C>T	20.37:g.6021941G>A							p.C650C	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2174	-			650			Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1950C>T	CCDS13097.1																																																																																				0.721	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		4	184	0	0	0	1	0	4	184					A	6021941	G	A	6021941	2	1	45	1	0	0	0	0	0	0	0	1	9075	1079	38	1		1	LRRN4	20	6021941	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5649896	6021941	57003579	147	5386											
DHX35	60625	broad.mit.edu	37	chr20	37623503	37623503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcgattgattgtagctTcagccactctggatgcagac	9	10	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:37623503T>C	ENST00000252011.3	+	8	655	c.622T>C	c.(622-624)Tca>Cca	p.S208P	DHX35_ENST00000373323.4_Missense_Mutation_p.S177P|DHX35_ENST00000373325.2_Missense_Mutation_p.S208P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	208	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATTGTAGCTTCAGCCACTCT	0.408																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(622-624)Tca>Cca		DEAH (Asp-Glu-Ala-His) box polypeptide 35							159	147	151					20																	37623503		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37623503T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.622T>C	20.37:g.37623503T>C	ENSP00000252011:p.Ser208Pro					DHX35_ENST00000373325.2_Missense_Mutation_p.S208P|DHX35_ENST00000373323.4_Missense_Mutation_p.S177P	p.S208P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			8	655	+		Myeloproliferative disorder(115;0.00878)	208			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.622T>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039783	0.93630	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.86	5.86	0.93980	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72114	-0.4388	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	177;208	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	P	208;208;177;173	ENSP00000362422:S208P;ENSP00000252011:S208P;ENSP00000362420:S177P;ENSP00000414630:S173P	ENSP00000252011:S208P	S	+	1	0	DHX35	37056917	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.820000	0.86633	2.367000	0.80283	0.528000	0.53228	TCA		0.408	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		5	505	0	0	0	1	0	5	505					C	37623503	T	C	37623503	3	2	45	1	0	0	0	0	1	0	0	0	4524	1783	62	4	652	4	DHX35	20	37623503	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	31601562	37623503	25402017	148	5387											
NFATC2	4773	broad.mit.edu	37	chr20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatcatcggggtatgCgggtccggagggtgggctgg	20	8	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.A59T(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							49	57	54					20																	50140605		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr					NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	NFATC2	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		9	656	0	0	0	1	0	9	656					T	50140605	C	T	50140605	3	4	45	1	0	0	0	0	1	0	0	0	10404	768	27	1	2686	1	NFATC2	20	50140605	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	12517102	50140605	12884915	149	5388											
CASS4	57091	broad.mit.edu	37	chr20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgccagaaagcgaggGttggtggaagtgtttgctcc	15	8	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(148-150)gGt>gTt		Cas scaffolding protein family member 4							65	61	62					20																	55012332		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012332G>T	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.149G>T	20.37:g.55012332G>T	ENSP00000353462:p.Gly50Val					CASS4_ENST00000360314.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	p.G50V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			2	350	+			50			SH3.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.149G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	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;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	CASS4	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT		0.602	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		44	408	1	0	4.44401e-20	1	4.94949e-20	44	408					T	55012332	G	T	55012332	3	4	45	1	0	0	0	0	1	0	0	0	2690	1261	44	3	155	3	CASS4	20	55012332	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4871727	55012332	8013188	150	5389											
ZBP1	81030	broad.mit.edu	37	chr20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcctcatctcatTgctgtgtcccagctgcaccc	10	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H|ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(739-741)Aat>Cat		Z-DNA binding protein 1							38	39	39					20																	56186849		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186849T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.808A>C	20.37:g.56186849T>G	ENSP00000360215:p.Asn270His					ZBP1_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	p.N247H			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	1019	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		270					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.739A>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	ZBP1	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT		0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		16	112	0	0	0	1	0	16	112					G	56186849	T	G	56186849	3	3	45	1	0	0	0	0	1	0	0	0	17574	1812	63	4	493	4	ZBP1	20	56186849	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	1174517	56186849	6838671	151	5390											
LAMA5	3911	broad.mit.edu	37	chr20	60921843	60921843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagtcggtggcatggccGtagcagttacaggctagaga	14	8	0	1	rs373700695		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATGGCCGTAGCAGTTAC	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1084-1086)taC>taT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A		1,4397	2.1+/-5.4	0,1,2198	29	32	31		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921843G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	20.37:g.60921843G>A						LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1152	-	Breast(26;1.57e-08)		362			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1086C>T	CCDS33502.1																																																																																				0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	142	0	0	0	1	0	4	142					A	60921843	G	A	60921843	2	1	45	1	0	0	0	0	0	0	0	1	8640	1140	40	1		1	LAMA5	20	60921843	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4734994	60921843	2103677	152	5391											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	212						12	212	---	---	---	---	G	61512381	-	G	61512380	7	5	45	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	590537	61512380	1513140	153	5392											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	661						8	661	---	---	---	---	-	61833652	CCT	-	61833650	7	5	45	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-FB-A5VM-01A-11D-A32N-08	321270	61833650	1191870	154	5393											
PRIC285	85441	broad.mit.edu	37	chr20	62198297	62198297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttctcgacgacctgcGcaatctcagccagattcagc	8	16	3	1	rs192208869	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:62198297G>A	ENST00000467148.1	-	6	2483	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A236V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	805	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GACGACCTGCGCAATCTCAGC	0.672													G|||	5	0.000998403	0.0	0.0072	5008	,	,		16567	0.0		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(2413-2415)gCg>gTg		helicase with zinc finger 2, transcriptional coactivator							62	56	58					20																	62198297		2202	4297	6499	SO:0001583	missense	85441							g.chr20:62198297G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2414C>T	20.37:g.62198297G>A	ENSP00000417401:p.Ala805Val					HELZ2_ENST00000427522.2_Missense_Mutation_p.A236V	p.A805V	NM_001037335.2	NP_001032412.2					6	2483	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2414C>T	CCDS33508.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	0.007	-1.975026	0.00452	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82433	-1.61;-1.61	5.13	-6.81	0.01704	.	3.081050	0.00777	N	0.001250	T	0.57198	0.2037	N	0.11698	0.16	0.09310	N	1	B;B	0.21309	0.054;0.0	B;B	0.15484	0.013;0.001	T	0.57613	-0.7781	10	0.12766	T	0.61	-0.0014	9.3003	0.37842	0.6415:0.1771:0.1814:0.0	.	805;236	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	236;805	ENSP00000393257:A236V;ENSP00000417401:A805V	ENSP00000393257:A236V	A	-	2	0	RP4-697K14.7	61668741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.788000	0.04614	-1.645000	0.01515	-1.191000	0.01696	GCG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	576	0	0	0	1	0	6	576					A	62198297	G	A	62198297	3	1	45	1	0	0	0	0	1	0	0	0	12532	1087	38	1	5591	1	PRIC285	20	62198297	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	364647	62198297	827223	155	5394											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	10	14	1	0	rs398123018		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105	112	110					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	930	0	0	0	1	0	6	930					T	62324513	C	T	62324513	3	4	45	1	0	0	0	0	1	0	0	0	13770	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	126216	62324513	701007	156	5395											
SUMO3	6612	broad.mit.edu	37	chr21	46229016	46229016	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgtcgaacctgaatctgatCtgcctcattgacaagccctg	8	14	3	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532																																						ENST00000332859.6																			0				prostate(1)	1						c.(166-168)caG>caA		small ubiquitin-like modifier 3							135	102	114					21																	46229016		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46229016C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"SMT3 (suppressor of mif two 3, yeast) homolog 1", "SMT3 suppressor of mif two 3 homolog 3 (yeast)", "SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.168G>A	21.37:g.46229016C>T						SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.Q94Q	p.Q56Q	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	3	328	-			56			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.168G>A																																																																																					0.532	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			31	215	0	0	0	1	0	31	215					T	46229016	C	T	46229016	2	4	45	1	0	0	0	0	0	0	0	1	15441	912	32	2		2	SUMO3	21	46229016	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		46229016	1900879	157	5396											
CACNA1I	8911	broad.mit.edu	37	chr22	40015365	40015365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaacctgtcagccatccGcaccgtgcgcgtcctgaggc	10	17	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40015365G>A	ENST00000402142.3	+	4	533	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	178					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCCATCCGCACCGTGCGC	0.617																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(532-534)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						113	115	115					22																	40015365		2187	4282	6469	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40015365G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.533G>A	22.37:g.40015365G>A	ENSP00000385019:p.Arg178His					CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R178H	p.R178H			Q9P0X4	CAC1I_HUMAN			6	533	+	Melanoma(58;0.0749)		178					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.533G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	22.5	4.298716	0.81025	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98594	4.275	0.50313	D	0.99986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	D	0.97964	1.0339	10	0.59425	D	0.04	.	17.3138	0.87217	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	178	ENSP00000385019:R178H;ENSP00000384093:R178H;ENSP00000383887:R178H;ENSP00000385680:R178H;ENSP00000337829:R178H;ENSP00000383028:R178H	ENSP00000337829:R178H	R	+	2	0	CACNA1I	38345311	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	8.996000	0.93539	2.405000	0.81733	0.556000	0.70494	CGC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	656	0	0	0	1	0	7	656					A	40015365	G	A	40015365	3	1	45	1	0	0	0	0	1	0	0	0	2553	1087	38	1	547	1	CACNA1I	22	40015365	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		40015365	11289201	158	5397											
TNRC6B	23112	broad.mit.edu	37	chr22	40662850	40662850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctaaggatgaggaaccCagtggttgggaagagccatc	13	9	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	872	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552																																						ENST00000454349.2																			0				breast(1)	1						c.(2614-2616)ccC>ccT		trinucleotide repeat containing 6B							39	41	40					22																	40662850		2109	4237	6346	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662850C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2616C>T	22.37:g.40662850C>T						TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	p.P872P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2827	+			872			Pro-rich.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.2616C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	TNRC6B	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA		0.552	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				27	135	0	0	0	1	0	27	135					T	40662850	C	T	40662850	2	4	45	1	0	0	0	0	0	0	0	1	16393	581	21	2		2	TNRC6B	22	40662850	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	647485	40662850	10641716	159	5398											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		7	258						7	258	---	---	---	---	-	16850850	AG	-	16850849	7	5	45	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-FB-A5VM-01A-11D-A32N-08		16850849	138419711	160	5399											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			15	39						15	39	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	45	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-FB-A5VM-01A-11D-A32N-08	34388447	51239296	104031264	161	5400											
BRWD3	254065	broad.mit.edu	37	chrX	79932804	79932804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcactaagtagttttctcttGattcctgtccggggctctct	9	11	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4711-4713)atC>atT		bromodomain and WD repeat domain containing 3							44	41	42					X																	79932804		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79932804G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4713C>T	X.37:g.79932804G>A						BRWD3_ENST00000473691.1_5'UTR	p.I1571I	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4929	-			1571					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.4713C>T	CCDS14447.1																																																																																				0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		34	87	0	0	0	1	0	34	87					A	79932804	G	A	79932804	2	1	45	1	0	0	0	0	0	0	0	1	1530	1280	45	2		2	BRWD3	23	79932804	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	28693508	79932804	75337756	162	5401											
RGAG1	57529	broad.mit.edu	37	chrX	109695238	109695238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctagagtaatgtccGcacagttaacaatggccaaa	8	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1393-1395)Gca>Aca		retrotransposon gag domain containing 1							151	131	138					X																	109695238		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695238G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1639	+			465					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1393G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	459	0	0	0	1	0	6	459					A	109695238	G	A	109695238	3	1	45	1	0	0	0	0	1	0	0	0	13324	1087	38	1	1395	1	RGAG1	23	109695238	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	29762434	109695238	45575322	163	5402											
FAM70A	55026	broad.mit.edu	37	chrX	119394769	119394769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaggtggatagtaggGtggagagtaacggggcggtg	19	3	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:119394769G>C	ENST00000309720.5	-	10	1129	c.1006C>G	c.(1006-1008)Ccc>Gcc	p.P336A	TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371369.4_Missense_Mutation_p.P312A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	336	Pro-rich.					integral component of membrane (GO:0016021)											GGATAGTAGGGTGGAGAGTAA	0.517																																						ENST00000371369.4																			0											c.(934-936)Ccc>Gcc		transmembrane protein 255A							130	107	115					X																	119394769		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119394769G>C	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1006C>G	X.37:g.119394769G>C	ENSP00000310110:p.Pro336Ala					TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000309720.5_Missense_Mutation_p.P336A	p.P312A	NM_001104544.1	NP_001098014.1					9	1160	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.934C>G	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904059	0.33628	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	N	0.17312	0.475	0.40788	D	0.98323	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.996	T	0.51442	-0.8705	10	0.36615	T	0.2	-19.3739	17.6499	0.88161	0.0:0.0:1.0:0.0	.	228;312;336	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	A	336;312;172;228	ENSP00000310110:P336A;ENSP00000360420:P312A;ENSP00000360403:P172A;ENSP00000405781:P228A	ENSP00000310110:P336A	P	-	1	0	FAM70A	119278797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.370000	0.90120	2.471000	0.83476	0.600000	0.82982	CCC		0.517	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		4	193	0	0	0	1	0	4	193					C	119394769	G	C	119394769	3	2	45	1	0	0	0	0	1	0	0	0	5630	1261	44	5	47	5	FAM70A	23	119394769	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	9699531	119394769	35875791	164	5403											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	299						8	299	---	---	---	---	-	150817144	GCT	-	150817142	7	5	45	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-FB-A5VM-01A-11D-A32N-08	31422373	150817142	4453418	165	5404											
ATP2B3	492	broad.mit.edu	37	chrX	152806983	152806983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtctctctgggcctctcGttctatgcgccgccaggaga	11	14	4	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000349466.2	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(373-375)tcG>tcT		ATPase, Ca++ transporting, plasma membrane 3							97	82	87					X																	152806983		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806983G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.375G>T	X.37:g.152806983G>T						ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S	p.S125S			Q16720	AT2B3_HUMAN			3	701	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		125					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.375G>T	CCDS35440.1																																																																																				0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		48	111	1	0	2.81731e-22	1	3.1527e-22	48	111					T	152806983	G	T	152806983	2	4	45	1	0	0	0	0	0	0	0	1	1142	1132	40	3		3	ATP2B3	23	152806983	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1989841	152806983	2463577	166	5405											
VPS13D	55187	broad.mit.edu	37	chr1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatagaggaatttatgCggccttatgatttacaagat	8	7	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)Cgg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							145	147	146					1																	12371650		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371650C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6790C>T	1.37:g.12371650C>T	ENSP00000350854:p.Arg2264Trp					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	p.R2264W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6920	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Missense_Mutation	SNP	ENST00000358136.3	37	c.6790C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771616	0.69992	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.68593	2.085	0.80722	D	1	D;P;P	0.89917	1.0;0.794;0.691	D;B;B	0.87578	0.998;0.277;0.143	T	0.67841	-0.5566	10	0.66056	D	0.02	.	13.738	0.62829	0.4045:0.5955:0.0:0.0	.	171;2264;2264	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	W	2264	ENSP00000348666:R2264W;ENSP00000350854:R2264W	ENSP00000348666:R2264W	R	+	1	2	VPS13D	12294237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	0.711000	0.32018	0.563000	0.77884	CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	606	0	0	0	1	0	6	606					T	12371650	C	T	12371650	3	4	46	1	0	0	0	0	1	0	0	0	17246	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		12371650	236878971	1	5406											
MANEAL	149175	broad.mit.edu	37	chr1	38265867	38265867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagagaaggagcagtggCtcatgtgaggggcctgtaaa	15	6	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38265867C>T	ENST00000373045.6	+	4	1747	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	456						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCAGTGGCTCATGTGAGG	0.582																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(1366-1368)Ctc>Ttc		mannosidase, endo-alpha-like							40	43	42					1																	38265867		2196	4289	6485	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265867C>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1366C>T	1.37:g.38265867C>T	ENSP00000362136:p.Leu456Phe					RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|MANEAL_ENST00000397631.3_3'UTR	p.L456F	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			4	1747	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	456					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1366C>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824681	0.71143	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	4.51	0.55191	.	0.063428	0.64402	D	0.000006	T	0.68284	0.2984	M	0.65975	2.015	0.51767	D	0.999932	D;D	0.64830	0.962;0.994	P;P	0.59889	0.528;0.865	T	0.70414	-0.4878	9	0.62326	D	0.03	-8.2914	11.3578	0.49625	0.0:0.8696:0.0:0.1304	.	234;456	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	F	456;262;234	.	ENSP00000328770:L234F	L	+	1	0	MANEAL	38038454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.014000	0.49590	2.662000	0.90505	0.655000	0.94253	CTC		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		37	269	0	0	0	1	0	37	269					T	38265867	C	T	38265867	3	4	46	1	0	0	0	0	1	0	0	0	9263	797	28	2	1380	2	MANEAL	1	38265867	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	25894217	38265867	210984754	2	5407											
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	13	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						ENST00000373016.3																			1	Substitution - Missense(1)	p.P143S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Tcc		four and a half LIM domains 3							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_ENST00000485803.1_5'UTR	p.P143S	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			4	595	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		5	525	0	0	0	1	0	5	525					A	38463709	G	A	38463709	3	1	46	1	0	0	0	0	1	0	0	0	5905	1203	42	2	427	2	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	197842	38463709	210786912	3	5408											
SLC35D1	23169	broad.mit.edu	37	chr1	67487220	67487220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtaacaaaggcttacccCatcacacaggagagggtgaa	11	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:67487220C>A	ENST00000235345.5	-	9	880	c.795G>T	c.(793-795)atG>atT	p.M265I	SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	265					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AGGCTTACCCCATCACACAGG	0.423																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(793-795)atG>atT		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						113	112	113					1																	67487220		2203	4300	6503	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67487220C>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.795G>T	1.37:g.67487220C>A	ENSP00000235345:p.Met265Ile					SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I	p.M265I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			9	880	-			265					A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.795G>T	CCDS636.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868722	0.91587	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.61158	0.13;0.13	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.036070	0.85682	D	0.000000	T	0.67059	0.2853	M	0.80616	2.505	0.80722	D	1	P;P	0.46859	0.792;0.885	P;P	0.55222	0.542;0.771	T	0.60687	-0.7214	10	0.22109	T	0.4	-8.9634	19.6313	0.95704	0.0:1.0:0.0:0.0	.	186;265	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	I	265;186	ENSP00000235345:M265I;ENSP00000445189:M186I	ENSP00000235345:M265I	M	-	3	0	SLC35D1	67259808	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.389000	0.73199	2.937000	0.99478	0.650000	0.86243	ATG		0.423	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		5	384	1	0	1	1	1	5	384					A	67487220	C	A	67487220	3	1	46	1	0	0	0	0	1	0	0	0	14631	594	21	3	288	3	SLC35D1	1	67487220	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29023511	67487220	181763401	4	5409											
DCLRE1B	64858	broad.mit.edu	37	chr1	114449702	114449702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggacaagagaccatgaccGtaaccctcctcgatgccaat	8	13	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:114449702G>A	ENST00000369563.3	+	2	720	c.274G>A	c.(274-276)Gta>Ata	p.V92I	DCLRE1B_ENST00000466480.1_Intron|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	92					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCATGACCGTAACCCTCCT	0.468								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(274-276)Gta>Ata	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							247	215	226					1																	114449702		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114449702G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.274G>A	1.37:g.114449702G>A	ENSP00000358576:p.Val92Ile					DCLRE1B_ENST00000466480.1_Intron	p.V92I	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	720	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	92					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.274G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374706	0.95923	.	.	ENSG00000118655	ENST00000369563	T	0.74421	-0.84	5.67	5.67	0.87782	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.84579	0.5503	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83797	0.0234	10	0.49607	T	0.09	-0.2884	19.7629	0.96329	0.0:0.0:1.0:0.0	.	92	Q9H816	DCR1B_HUMAN	I	92	ENSP00000358576:V92I	ENSP00000358576:V92I	V	+	1	0	DCLRE1B	114251225	1.000000	0.71417	0.537000	0.28052	0.892000	0.51952	9.742000	0.98846	2.666000	0.90696	0.561000	0.74099	GTA		0.468	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		6	455	0	0	0	1	0	6	455					A	114449702	G	A	114449702	3	1	46	1	0	0	0	0	1	0	0	0	4306	1145	40	1	280	1	DCLRE1B	1	114449702	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	46962482	114449702	134800919	5	5410											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgatgattctacctgtCgccttgtttcggggaacctc	13	10	1	2	rs375355414		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:150528719C>T	ENST00000369038.2	+	7	1654	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R485C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	485					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTACCTGTCGCCTTGTTTC	0.612																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1453-1455)Cgc>Tgc		ADAMTS-like 4		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	96	97		1453,1453	4.7	0.9	1		97	0,8600		0,0,4300	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	485/1075,485/878	150528719	1,13005	2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150528719C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1453C>T	1.37:g.150528719C>T	ENSP00000358034:p.Arg485Cys					ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C	p.R485C	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1689	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		485					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1453C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599584	0.66332	2.27E-4	0.0	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.72	4.72	0.59763	.	.	.	.	.	T	0.71626	0.3362	M	0.71871	2.18	0.44570	D	0.997533	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;P;P;P	0.63113	0.911;0.901;0.88;0.809	T	0.75736	-0.3213	9	0.87932	D	0	.	10.2988	0.43639	0.1967:0.8033:0.0:0.0	.	508;508;485;485	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	485;485;508;485	ENSP00000358037:R485C;ENSP00000271643:R485C;ENSP00000358035:R508C;ENSP00000358034:R485C	ENSP00000271643:R485C	R	+	1	0	ADAMTSL4	148795343	0.400000	0.25295	0.898000	0.35279	0.996000	0.88848	2.063000	0.41423	2.449000	0.82847	0.462000	0.41574	CGC		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		154	567	0	0	0	1	0	154	567					T	150528719	C	T	150528719	3	4	46	1	0	0	0	0	1	0	0	0	277	884	31	1	1479	1	ADAMTSL4	1	150528719	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	36079017	150528719	98721902	6	5411											
LCE1A	353131	broad.mit.edu	37	chr1	152800035	152800035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgccccactcctaagtgCcccccaaagtgtccccctaa	6	18	0	0	rs548821315		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152800035C>T	ENST00000335123.2	+	1	87	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	29	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			ctcctaagtgccccccaaagt	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		11983	0.001		0.0	False		,,,				2504	0.0					ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(85-87)tgC>tgT		late cornified envelope 1A							60	65	63					1																	152800035		2203	4300	6503	SO:0001819	synonymous_variant	353131				keratinization			g.chr1:152800035C>T		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.87C>T	1.37:g.152800035C>T							p.C29C	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	87	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Cys-rich.			Silent	SNP	ENST00000335123.2	37	c.87C>T	CCDS1028.1																																																																																				0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		6	542	0	0	0	1	0	6	542					T	152800035	C	T	152800035	2	4	46	1	0	0	0	0	0	0	0	1	8690	747	26	2		2	LCE1A	1	152800035	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2271316	152800035	96450586	7	5412											
PBXIP1	57326	broad.mit.edu	37	chr1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccagctcctgttgccGcactggggctagctctgtgc	14	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1831-1833)Cgg>Tgg		pre-B-cell leukemia homeobox interacting protein 1							54	54	54					1																	154918319		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918319G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1831C>T	1.37:g.154918319G>A	ENSP00000357448:p.Arg611Trp					PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W	p.R611W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1902	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		611					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1831C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303611	0.60305	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.32;2.34;2.38;2.36	4.72	3.79	0.43588	.	0.612341	0.15264	N	0.271642	T	0.23289	0.0563	M	0.62723	1.935	0.30294	N	0.790065	D	0.89917	1.0	D	0.66196	0.942	T	0.03121	-1.1070	10	0.87932	D	0	-17.2576	11.8382	0.52338	0.0:0.0:0.8238:0.1762	.	611	Q96AQ6	PBIP1_HUMAN	W	582;611;438;387;456	ENSP00000357450:R582W;ENSP00000357448:R611W;ENSP00000440142:R438W;ENSP00000438584:R456W	ENSP00000357448:R611W	R	-	1	2	PBXIP1	153184943	0.564000	0.26602	0.999000	0.59377	0.959000	0.62525	1.282000	0.33226	1.157000	0.42530	0.462000	0.41574	CGG		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		5	430	0	0	0	1	0	5	430					A	154918319	G	A	154918319	3	1	46	1	0	0	0	0	1	0	0	0	11538	1086	38	1	372	1	PBXIP1	1	154918319	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2118284	154918319	94332302	8	5413											
TRIM46	80128	broad.mit.edu	37	chr1	155149492	155149492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcaactctgccgggtgCggcgcacccacagcgggcac	13	15	2	0	rs573947622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:155149492C>T	ENST00000334634.4	+	4	754	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000392451.2_Missense_Mutation_p.R252W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	252						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCGGGTGCGGCGCACCCA	0.572											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0					ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(754-756)Cgg>Tgg		tripartite motif containing 46							101	100	100					1																	155149492		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149492C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.754C>T	1.37:g.155149492C>T	ENSP00000334657:p.Arg252Trp		OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1768	TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|TRIM46_ENST00000334634.4_Missense_Mutation_p.R252W	p.R252W			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	837	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		252					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.754C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082698	0.76528	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.43	3.49	0.39957	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.59436	1.845	0.40970	D	0.984693	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.938;0.99;0.981;0.99;0.987	T	0.48445	-0.9035	10	0.49607	T	0.09	.	12.1901	0.54266	0.4685:0.5314:0.0:0.0	.	239;252;229;252;252	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	W	259;239;252;126;252;252;229;252	ENSP00000442719:R259W;ENSP00000357369:R252W;ENSP00000440254:R126W;ENSP00000376245:R252W;ENSP00000357367:R252W;ENSP00000357366:R229W;ENSP00000334657:R252W	ENSP00000334657:R252W	R	+	1	2	TRIM46	153416116	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	0.690000	0.31570	0.655000	0.94253	CGG		0.572	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		6	551	0	0	0	1	0	6	551					T	155149492	C	T	155149492	3	4	46	1	0	0	0	0	1	0	0	0	16574	759	27	1	768	1	TRIM46	1	155149492	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	231173	155149492	94101129	9	5414											
POU2F1	5451	broad.mit.edu	37	chr1	167384904	167384904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcttggtctctgccgccGcagcatctgcagggaactct	11	13	3	0	rs561712054		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:167384904G>A	ENST00000541643.3	+	17	2251	c.2089G>A	c.(2089-2091)Gca>Aca	p.A697T	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T|POU2F1_ENST00000367862.5_Missense_Mutation_p.A709T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	697					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTCTGCCGCCGCAGCATCTGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.001					ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2125-2127)Gca>Aca		POU class 2 homeobox 1							150	139	142					1																	167384904		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384904G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2089G>A	1.37:g.167384904G>A	ENSP00000441285:p.Ala697Thr					POU2F1_ENST00000541643.3_Missense_Mutation_p.A697T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T	p.A709T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2360	+			697					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2125G>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.901045	0.72754	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.89746	-2.55;-2.53;-2.53;-2.52;-2.56	5.29	5.29	0.74685	.	0.188821	0.44902	D	0.000419	T	0.81211	0.4775	N	0.19112	0.55	0.35590	D	0.806972	D;D;D;P	0.56521	0.96;0.976;0.976;0.892	B;B;P;B	0.46510	0.151;0.29;0.519;0.151	D	0.85609	0.1257	9	0.87932	D	0	.	17.295	0.87168	0.0:0.0:1.0:0.0	.	657;709;695;697	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	T	720;657;695;697;709	ENSP00000356840:A720T;ENSP00000401217:A657T;ENSP00000356839:A695T;ENSP00000441285:A697T;ENSP00000356836:A709T	ENSP00000356836:A709T	A	+	1	0	POU2F1	165651528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.572000	0.60886	2.746000	0.94184	0.591000	0.81541	GCA		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		6	954	0	0	0	1	0	6	954					A	167384904	G	A	167384904	3	1	46	1	0	0	0	0	1	0	0	0	12313	1087	38	1	2147	1	POU2F1	1	167384904	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	12235412	167384904	81865717	10	5415											
PRELP	5549	broad.mit.edu	37	chr1	203452587	203452587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctactgtgatagccGcaacctgcgaaaggtccctg	10	14	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:203452587G>A	ENST00000343110.2	+	2	402	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	92					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)			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)			TGTGATAGCCGCAACCTGCGA	0.587																																						ENST00000343110.2																			0				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						c.(274-276)cGc>cAc		proline/arginine-rich end leucine-rich repeat protein							108	100	103					1																	203452587		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452587G>A	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.275G>A	1.37:g.203452587G>A	ENSP00000343924:p.Arg92His						p.R92H	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	402	+			92					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.275G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136216	0.77662	.	.	ENSG00000188783	ENST00000343110	D	0.97066	-4.23	4.71	4.71	0.59529	Leucine-rich repeat-containing N-terminal (2);	0.065635	0.64402	D	0.000012	D	0.98115	0.9378	M	0.76727	2.345	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	D	0.98206	1.0470	10	0.40728	T	0.16	-15.1291	16.2483	0.82460	0.0:0.0:1.0:0.0	.	92	P51888	PRELP_HUMAN	H	92	ENSP00000343924:R92H	ENSP00000343924:R92H	R	+	2	0	PRELP	201719210	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.990000	0.56965	2.165000	0.68154	0.462000	0.41574	CGC		0.587	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		6	579	0	0	0	1	0	6	579					A	203452587	G	A	203452587	3	1	46	1	0	0	0	0	1	0	0	0	12520	1087	38	1	277	1	PRELP	1	203452587	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	36067683	203452587	45798034	11	5416											
CR2	1380	broad.mit.edu	37	chr1	207642232	207642232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtaactgcaaacttttTctgtgatgaagggtgagtgt	13	4	1	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:207642232T>A	ENST00000367058.3	+	4	911	c.722T>A	c.(721-723)tTc>tAc	p.F241Y	CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000367057.3_Missense_Mutation_p.F241Y|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	241	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCAAACTTTTTCTGTGATGAA	0.433																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(721-723)tTc>tAc		complement component (3d/Epstein Barr virus) receptor 2							70	66	68					1																	207642232		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642232T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.722T>A	1.37:g.207642232T>A	ENSP00000356025:p.Phe241Tyr					CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000367058.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y	p.F241Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			4	911	+			241			Sushi 4.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.722T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	7.620	0.676604	0.14841	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	-0.327	0.12694	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46092	0.1375	N	0.11284	0.12	0.09310	N	1	B;P;B	0.40578	0.376;0.722;0.325	B;P;B	0.48921	0.426;0.595;0.3	T	0.37596	-0.9699	9	0.51188	T	0.08	.	3.5273	0.07763	0.3165:0.4366:0.0:0.2469	.	241;241;241	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	241	ENSP00000356025:F241Y;ENSP00000356024:F241Y;ENSP00000356026:F241Y;ENSP00000404222:F241Y	ENSP00000356024:F241Y	F	+	2	0	CR2	205708855	0.003000	0.15002	0.016000	0.15963	0.002000	0.02628	0.038000	0.13862	-0.015000	0.14150	-1.098000	0.02139	TTC		0.433	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		15	311	0	0	0	1	0	15	311					A	207642232	T	A	207642232	3	1	46	1	0	0	0	0	1	0	0	0	3851	1783	62	5	736	5	CR2	1	207642232	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	4189645	207642232	41608389	12	5417											
OBSCN	84033	broad.mit.edu	37	chr1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggggagtactcgtgcGtgtgcgggcaggagaggacc	18	9	0	1	rs374049885		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:228480445G>A	ENST00000422127.1	+	40	10869	c.10825G>A	c.(10825-10827)Gtg>Atg	p.V3609M	OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V4038M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3609	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12112-12114)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	MET/VAL,MET/VAL	1,4289		0,1,2144	120	122	121		10825,10825	1.5	0	1		121	1,8483		0,1,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6385	AA,AG,GG		0.0118,0.0233,0.0157	benign,benign	3609/7969,3609/6621	228480445	2,12772	2145	4242	6387	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228480445G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10825G>A	1.37:g.228480445G>A	ENSP00000409493:p.Val3609Met					OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3609M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M	p.V4038M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			45	12186	+		Prostate(94;0.0405)	3079			Ig-like 41.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12112G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		139	458	0	0	0	1	0	139	458					A	228480445	G	A	228480445	3	1	46	1	0	0	0	0	1	0	0	0	10854	1145	40	1	10979	1	OBSCN	1	228480445	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	20838213	228480445	20770176	13	5418											
VSNL1	7447	broad.mit.edu	37	chr2	17830679	17830679	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgtgttctcctttgcagttCtttccttatggagacgcctc	9	12	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:17830679C>A	ENST00000406397.1	+	3	690	c.165C>A	c.(163-165)ttC>ttA	p.F55L	VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L|VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L			P62760	VISL1_HUMAN	visinin-like 1	55	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGCAGTTCTTTCCTTATG	0.572																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(163-165)ttC>ttA		visinin-like 1							114	115	115					2																	17830679		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17830679C>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.165C>A	2.37:g.17830679C>A	ENSP00000384719:p.Phe55Leu					VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L|VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L	p.F55L			P62760	VISL1_HUMAN			3	690	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		55			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.165C>A	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911958	0.52439	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.34	3.44	0.39384	EF-hand-like domain (1);	0.104574	0.64402	D	0.000002	T	0.28134	0.0694	M	0.79123	2.44	0.58432	D	0.999991	B	0.12013	0.005	B	0.10450	0.005	T	0.28713	-1.0035	10	0.72032	D	0.01	.	7.306	0.26447	0.0:0.7406:0.0:0.2594	.	55	P62760	VISL1_HUMAN	L	55	ENSP00000384014:F55L;ENSP00000405511:F55L;ENSP00000295156:F55L;ENSP00000390124:F55L;ENSP00000384719:F55L	ENSP00000295156:F55L	F	+	3	2	VSNL1	17694160	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.151000	0.42263	2.122000	0.65172	0.454000	0.30748	TTC		0.572	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		55	386	1	0	3.21867e-24	1	3.53601e-24	55	386					A	17830679	C	A	17830679	3	1	46	1	0	0	0	0	1	0	0	0	17281	912	32	3	171	3	VSNL1	2	17830679	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		17830679	225368694	14	5419											
CGREF1	10669	broad.mit.edu	37	chr2	27324320	27324320	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcctctgcctggcccCcagcttcccctctgggcccg	9	21	3	0	rs111421729		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:27324320C>T	ENST00000260595.5	-	7	1028				CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000402394.1_Missense_Mutation_p.G260E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCCCCCAGCTTCCCC	0.692																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(778-780)gGg>gAg		cell growth regulator with EF-hand domain 1							25	28	27					2																	27324320		1717	3379	5096	SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324320C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.736-8G>A	2.37:g.27324320C>T						CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E	p.G260E	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1047	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	c	11.11	1.543013	0.27563	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694	T;T;T;T	0.78364	-1.09;-1.09;-1.09;-1.17	3.59	1.7	0.24286	.	.	.	.	.	T	0.74283	0.3696	.	.	.	0.09310	N	0.999999	D;D	0.54047	0.964;0.964	P;B	0.46585	0.521;0.443	T	0.64037	-0.6501	8	0.87932	D	0	-13.6597	7.6551	0.28371	0.1863:0.6333:0.1804:0.0	.	382;260	B5MCC9;Q99674	.;CGRE1_HUMAN	E	260;260;243;260;382	ENSP00000385452:G260E;ENSP00000386113:G260E;ENSP00000324025:G260E;ENSP00000385574:G382E	ENSP00000324025:G260E	G	-	2	0	CGREF1	27177824	0.004000	0.15560	0.031000	0.17742	0.023000	0.10783	0.375000	0.20518	0.218000	0.20820	-0.306000	0.09157	GGG		0.692	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		9	573	0	0	0	1	0	9	573					T	27324320	C	T	27324320	1	4	46	0	1	0	0	0	0	0	0	0	3314	623	22	2		2	CGREF1	2	27324320	Intron	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	9493641	27324320	215875053	15	5420											
C2orf16	84226	broad.mit.edu	37	chr2	27804477	27804477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagaggagccatcgcGgtccctcagagagaagccat	11	15	1	3	rs112465116		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:27804477G>A	ENST00000408964.2	+	1	5089	c.5038G>A	c.(5038-5040)Ggt>Agt	p.G1680S	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1680	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGCCATCGCGGTCCCTCAGA	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5038-5040)Ggt>Agt		chromosome 2 open reading frame 16							146	151	149					2																	27804477		1915	4123	6038	SO:0001583	missense	84226							g.chr2:27804477G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5038G>A	2.37:g.27804477G>A	ENSP00000386190:p.Gly1680Ser						p.G1680S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5089	+	Acute lymphoblastic leukemia(172;0.155)		1680			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5038G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351775	0.01256	.	.	ENSG00000221843	ENST00000408964	T	0.04454	3.62	3.19	-4.08	0.03963	.	.	.	.	.	T	0.01029	0.0034	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	9	0.02654	T	1	.	2.0493	0.03567	0.4884:0.1249:0.2645:0.1222	.	1680	Q68DN1	CB016_HUMAN	S	1680	ENSP00000386190:G1680S	ENSP00000386190:G1680S	G	+	1	0	C2orf16	27657981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.202000	0.17295	-1.349000	0.02202	-5.380000	0.00001	GGT		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		8	936	0	0	0	1	0	8	936					A	27804477	G	A	27804477	3	1	46	1	0	0	0	0	1	0	0	0	2164	1116	39	1	5040	1	C2orf16	2	27804477	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	480157	27804477	215394896	16	5421											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		9	460						9	460	---	---	---	---	-	39095413	CCA	-	39095411	7	5	46	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-FB-A78T-01A-12D-A32N-08	11290934	39095411	204103962	17	5422											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			9	505						9	505	---	---	---	---	-	63283261	CCA	-	63283259	7	5	46	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-FB-A78T-01A-12D-A32N-08	24187848	63283259	179916114	18	5423											
VPS24	51652	broad.mit.edu	37	chr2	86732976	86732978	+	In_Frame_Del	DEL	TCC	TCC	-													gcatggcctccagagcctctTcctcctcctcctcatcctct							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:86732976_86732978delTCC	ENST00000263856.4	-	6	746_748	c.618_620delGGA	c.(616-621)gaggaa>gaa	p.206_207EE>E	RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.235_236EE>E|CHMP3_ENST00000409225.2_In_Frame_Del_p.140_141EE>E|CHMP3_ENST00000409727.1_In_Frame_Del_p.166_167EE>E|CHMP3_ENST00000439940.2_In_Frame_Del_p.235_236EE>E|CHMP3_ENST00000494623.1_5'Flank	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	206	Interaction with STAMBP.|Interaction with VPS4A.|Intramolecular interaction with N- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CAGAGCCTCTTCCTCCTCCTCCT	0.616																																						ENST00000263856.4																			0											c.(616-621)gaa>ga		charged multivesicular body protein 3																																				SO:0001651	inframe_deletion	51652							g.chr2:86732976_86732978delTCC	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.618_620delGGA	2.37:g.86732985_86732987delTCC	ENSP00000263856:p.Glu208del					CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del	p.EE206del	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					6	746_748	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	In_Frame_Del	DEL	ENST00000263856.4	37	c.618_620delGGA	CCDS33236.1																																																																																				0.616	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		7	364						7	364	---	---	---	---	-	86732978	TCC	-	86732976	7	5	46	1	0	1	0	1	0	0	0	0	17249	1783	62	0	52	0	VPS24	2	86732976	In_Frame_Del	DEL	TCC	TCGA-FB-A78T-01A-12D-A32N-08	23449717	86732976	156466397	19	5424											
TEKT4	150483	broad.mit.edu	37	chr2	95542449	95542449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacagtctcttcatcgacCgccagaagtgcatggcccat	8	15	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:95542449C>T	ENST00000295201.4	+	6	1380	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	415					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCATCGACCGCCAGAAGTG	0.602																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1243-1245)Cgc>Tgc		tektin 4							81	58	66					2																	95542449		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542449C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1243C>T	2.37:g.95542449C>T	ENSP00000295201:p.Arg415Cys					AC097374.2_ENST00000568768.1_RNA	p.R415C	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			6	1380	+			415						Missense_Mutation	SNP	ENST00000295201.4	37	c.1243C>T	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.991699	0.54041	.	.	ENSG00000163060	ENST00000295201	T	0.03004	4.08	2.43	1.37	0.22104	.	0.113718	0.56097	D	0.000031	T	0.15565	0.0375	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	T	0.00972	-1.1495	10	0.87932	D	0	-12.3923	7.2052	0.25903	0.405:0.595:0.0:0.0	.	415	Q8WW24	TEKT4_HUMAN	C	415	ENSP00000295201:R415C	ENSP00000295201:R415C	R	+	1	0	TEKT4	94906176	0.118000	0.22208	1.000000	0.80357	0.869000	0.49853	-0.744000	0.04839	1.049000	0.40321	0.281000	0.19383	CGC		0.602	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		5	164	0	0	0	1	0	5	164					T	95542449	C	T	95542449	3	4	46	1	0	0	0	0	1	0	0	0	15807	652	23	1	1265	1	TEKT4	2	95542449	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	8809473	95542449	147656924	20	5425											
NCAPH	23397	broad.mit.edu	37	chr2	97033078	97033078	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagcatgtggagtctgctGacagcgctctccggaaagga	14	10	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:97033078G>A	ENST00000240423.4	+	15	2008	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	NCAPH_ENST00000427946.1_Silent_p.L519L|NCAPH_ENST00000455200.1_Silent_p.L644L	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	655					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTCTGCTGACAGCGCTCT	0.478																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1930-1932)ctG>ctA		non-SMC condensin I complex, subunit H							87	85	85					2																	97033078		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97033078G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1965G>A	2.37:g.97033078G>A						NCAPH_ENST00000427946.1_Silent_p.L519L|NCAPH_ENST00000240423.4_Silent_p.L655L	p.L644L			Q15003	CND2_HUMAN			15	2227	+		Ovarian(717;0.0221)	655					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.1932G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	4.855	0.158883	0.09236	.	.	ENSG00000121152	ENST00000435349	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60895	-0.7172	4	.	.	.	-11.9218	11.4063	0.49900	0.0812:0.0:0.9188:0.0	.	.	.	.	N	96	.	.	D	+	1	0	NCAPH	96396805	1.000000	0.71417	0.995000	0.50966	0.514000	0.34195	2.854000	0.48325	2.890000	0.99128	0.650000	0.86243	GAC		0.478	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		16	327	0	0	0	1	0	16	327					A	97033078	G	A	97033078	2	1	46	1	0	0	0	0	0	0	0	1	10251	1277	45	2		2	NCAPH	2	97033078	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1490629	97033078	146166295	21	5426											
TMEM131	23505	broad.mit.edu	37	chr2	98377121	98377121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagaaacctgttttGtttgaagaaactttagcaaa	9	6	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:98377121G>T	ENST00000186436.5	-	38	5271	c.5043C>A	c.(5041-5043)aaC>aaA	p.N1681K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1681	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACCTGTTTTGTTTGAAGAAA	0.507																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5041-5043)aaC>aaA		transmembrane protein 131							103	106	105					2																	98377121		1976	4153	6129	SO:0001583	missense	23505					integral to membrane		g.chr2:98377121G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5043C>A	2.37:g.98377121G>T	ENSP00000186436:p.Asn1681Lys						p.N1681K	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			38	5271	-			1681			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5043C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992820	0.35131	.	.	ENSG00000075568	ENST00000186436	T	0.30714	1.52	5.39	2.12	0.27331	.	0.600408	0.18546	N	0.138053	T	0.13927	0.0337	N	0.24115	0.695	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.12837	0.001;0.008	T	0.12734	-1.0536	10	0.05721	T	0.95	-8.0245	4.4318	0.11531	0.3871:0.0:0.4636:0.1493	.	1681;61	Q92545;Q0P631	TM131_HUMAN;.	K	1681	ENSP00000186436:N1681K	ENSP00000186436:N1681K	N	-	3	2	TMEM131	97743553	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.997000	0.40786	0.764000	0.33197	0.643000	0.83706	AAC		0.507	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		35	64	1	0	2.20474e-14	1	2.38846e-14	35	64					T	98377121	G	T	98377121	3	4	46	1	0	0	0	0	1	0	0	0	16096	1368	48	3	624	3	TMEM131	2	98377121	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1344043	98377121	144822252	22	5427											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	778	0	0	0	1	0	6	778					T	109371685	A	T	109371685	3	4	46	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	10994564	109371685	133827688	23	5428											
ZC3H6	376940	broad.mit.edu	37	chr2	113089550	113089550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactagcaattctggttccGgggctctgcctccatatgcc	10	13	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113089550G>A	ENST00000409871.1	+	12	3456	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1019							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCTGGTTCCGGGGCTCTGCC	0.507																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3055-3057)Ggg>Agg		zinc finger CCCH-type containing 6							57	54	55					2																	113089550		1901	4124	6025	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089550G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3055G>A	2.37:g.113089550G>A	ENSP00000386764:p.Gly1019Arg					ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	p.G1019R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3456	+			1019					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3055G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257724	0.10239	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.13538	2.58;2.58	5.33	3.27	0.37495	.	0.565940	0.18877	N	0.128691	T	0.11452	0.0279	L	0.44542	1.39	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.25152	-1.0140	10	0.33141	T	0.24	-0.002	8.1676	0.31237	0.2758:0.0:0.7242:0.0	.	1019	P61129	ZC3H6_HUMAN	R	1019	ENSP00000386764:G1019R;ENSP00000340298:G1019R	ENSP00000340298:G1019R	G	+	1	0	ZC3H6	112806021	1.000000	0.71417	0.162000	0.22713	0.473000	0.32948	4.501000	0.60393	0.434000	0.26340	0.591000	0.81541	GGG		0.507	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		40	147	0	0	0	1	0	40	147					A	113089550	G	A	113089550	3	1	46	1	0	0	0	0	1	0	0	0	17624	1116	39	1	3101	1	ZC3H6	2	113089550	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3717865	113089550	130109823	24	5429											
IL1F9	56300	broad.mit.edu	37	chr2	113742456	113742456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatggccaacccgagcccGtgaaacccttccttttctac	7	15	1	1	rs149685371		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113742456G>A	ENST00000259205.4	+	5	409	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	IL36G_ENST00000376489.2_Missense_Mutation_p.V79M	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	114					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCCGAGCCCGTGAAACCCTT	0.502																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(340-342)Gtg>Atg		interleukin 36, gamma		G	MET/VAL	0,4406		0,0,2203	142	130	134		340	0.8	0	2	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	yes	missense	IL36G	NM_019618.2	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	114/170	113742456	3,13003	2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742456G>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.340G>A	2.37:g.113742456G>A	ENSP00000259205:p.Val114Met					IL36G_ENST00000376489.2_Missense_Mutation_p.V79M	p.V114M	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			5	409	+			114					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.340G>A	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117400	0.08881	0.0	3.49E-4	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.16897	2.31;2.31	4.7	0.812	0.18744	.	0.366054	0.23536	N	0.047135	T	0.07638	0.0192	N	0.17248	0.465	0.09310	N	1	P;P	0.42357	0.777;0.769	B;B	0.36186	0.1;0.219	T	0.33007	-0.9885	10	0.27082	T	0.32	-15.0817	6.9685	0.24637	0.3978:0.0:0.6022:0.0	.	79;114	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	M	79;114	ENSP00000365672:V79M;ENSP00000259205:V114M	ENSP00000259205:V114M	V	+	1	0	IL36G	113458927	0.315000	0.24571	0.016000	0.15963	0.004000	0.04260	0.340000	0.19892	0.032000	0.15435	-0.254000	0.11334	GTG		0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		5	547	0	0	0	1	0	5	547					A	113742456	G	A	113742456	3	1	46	1	0	0	0	0	1	0	0	0	7687	1145	40	1	354	1	IL1F9	2	113742456	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	652906	113742456	129456917	25	5430											
TTN	7273	broad.mit.edu	37	chr2	179425623	179425623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttaactgttaacaaagtAtgattgtctgttgagatgat	8	4	2	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179425623A>C	ENST00000591111.1	-	276	80537	c.80313T>G	c.(80311-80313)caT>caG	p.H26771Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H28412Q|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26771	Ig-like 128.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAAAGTATGATTGTCTG	0.433																																						ENST00000589042.1																			0				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						c.(85234-85236)caT>caG		titin							147	125	132					2																	179425623		1924	4139	6063	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425623A>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.80313T>G	2.37:g.179425623A>C	ENSP00000465570:p.His26771Gln					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q	p.H28412Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85460	-			26771			Fibronectin type-III 107.		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.85236T>G		.	.	.	.	.	.	.	.	.	.	A	3.073	-0.190763	0.06299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.97	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49795	0.1578	L	0.41961	1.31	0.09310	N	0.999996	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.17979	0.011;0.011;0.02;0.02	T	0.49360	-0.8948	9	0.87932	D	0	.	6.1603	0.20360	0.543:0.0:0.3354:0.1216	.	19347;19472;19539;26771	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25844;19347;19539;19472;19345	ENSP00000343764:H25844Q;ENSP00000434586:H19347Q;ENSP00000340554:H19539Q;ENSP00000352154:H19472Q	ENSP00000340554:H19539Q	H	-	3	2	TTN	179133869	0.000000	0.05858	0.039000	0.18376	0.227000	0.25037	-0.205000	0.09411	0.170000	0.19704	0.533000	0.62120	CAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	186	0	0	0	1	0	7	186					C	179425623	A	C	179425623	3	2	46	1	0	0	0	0	1	0	0	0	16789	446	16	4	22891	4	TTN	2	179425623	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	65683167	179425623	63773750	26	5431											
TTN	7273	broad.mit.edu	37	chr2	179464373	179464373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactcctgcgagactgcGgaataactaaagtgcaagta	10	9	1	1	rs200132226		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179464373G>A	ENST00000591111.1	-	239	51556	c.51332C>T	c.(51331-51333)cCg>cTg	p.P17111L	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18752L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17111	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAGACTGCGGAATAACTAA	0.428																																						ENST00000589042.1																			0				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						c.(56254-56256)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,3851		0,1,1925	218	209	212		29060,48551,29435,29636	5.6	1	2		212	6,8250		0,6,4122	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,7,6047	AA,AG,GG		0.0727,0.026,0.0578	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	9687/26927,16184/33424,9812/27052,9879/27119	179464373	7,12101	1926	4128	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464373G>A	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.51332C>T	2.37:g.179464373G>A	ENSP00000465570:p.Pro17111Leu					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN_ENST00000591111.1_Missense_Mutation_p.P17111L|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L	p.P18752L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	56479	-			17111			Fibronectin type-III 36.		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.56255C>T		.	.	.	.	.	.	.	.	.	.	G	11.99	1.802335	0.31869	2.6E-4	7.27E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43545	0.1252	N	0.13299	0.325	0.43010	D	0.99454	P;P;P;P	0.39520	0.676;0.676;0.676;0.676	B;B;B;B	0.32289	0.143;0.143;0.143;0.143	T	0.54262	-0.8320	9	0.87932	D	0	.	14.2613	0.66088	0.0:0.0:0.8147:0.1852	.	9687;9812;9879;17111	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16184;9687;9879;9812;9685	ENSP00000343764:P16184L;ENSP00000434586:P9687L;ENSP00000340554:P9879L;ENSP00000352154:P9812L	ENSP00000340554:P9879L	P	-	2	0	TTN	179172618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.600000	0.61083	2.609000	0.88269	0.650000	0.86243	CCG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	653	0	0	0	1	0	5	653					A	179464373	G	A	179464373	3	1	46	1	0	0	0	0	1	0	0	0	16789	1116	39	1	51734	1	TTN	2	179464373	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	38750	179464373	63735000	27	5432											
MARS2	92935	broad.mit.edu	37	chr2	198570923	198570923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagccacttgcactgggGcattccggtgcccggggatg	15	11	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:198570923G>A	ENST00000282276.6	+	1	837	c.794G>A	c.(793-795)gGc>gAc	p.G265D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	265					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCACTGGGGCATTCCGGTG	0.552																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(793-795)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						63	63	63					2																	198570923		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570923G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.794G>A	2.37:g.198570923G>A	ENSP00000282276:p.Gly265Asp					AC011997.1_ENST00000409845.1_Intron	p.G265D	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	837	+			265					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.794G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782869	0.90282	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.71579	-0.58	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class I (M) (1);	0.000000	0.85682	D	0.000000	D	0.91068	0.7189	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94224	0.7470	10	0.87932	D	0	-17.4385	17.5664	0.87921	0.0:0.0:1.0:0.0	.	265	Q96GW9	SYMM_HUMAN	D	265;192	ENSP00000282276:G265D	ENSP00000282276:G265D	G	+	2	0	MARS2	198279168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.746000	0.98859	2.738000	0.93877	0.655000	0.94253	GGC		0.552	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		5	402	0	0	0	1	0	5	402					A	198570923	G	A	198570923	3	1	46	1	0	0	0	0	1	0	0	0	9358	1203	42	2	796	2	MARS2	2	198570923	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	19106550	198570923	44628450	28	5433											
ALS2	57679	broad.mit.edu	37	chr2	202593780	202593780	+	Frame_Shift_Del	DEL	T	T	-													actggcatggcttaccgtcaTttttccggggaaggtcttcc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:202593780delT	ENST00000264276.6	-	14	3079	c.2707delA	c.(2707-2709)atgfs	p.M903fs	ALS2_ENST00000457679.2_Frame_Shift_Del_p.M215fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	903	PH. {ECO:0000305}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTTACCGTCATTTTTCCGGGG	0.443																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2707-2709)tgfs		amyotrophic lateral sclerosis 2 (juvenile)							174	166	168					2																	202593780		1880	4108	5988	SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202593780delT	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2707delA	2.37:g.202593780delT	ENSP00000264276:p.Met903fs					ALS2_ENST00000457679.2_Frame_Shift_Del_p.M215fs	p.M903fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			14	3079	-			903			PH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	37	c.2707delA	CCDS42800.1																																																																																				0.443	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		7	837						7	837	---	---	---	---	-	202593780	T	-	202593780	7	5	46	1	0	1	0	1	0	0	0	0	550	1493	52	0	2350	0	ALS2	2	202593780	Frame_Shift_Del	DEL	T	TCGA-FB-A78T-01A-12D-A32N-08	4022857	202593780	40605593	29	5434											
TNS1	7145	broad.mit.edu	37	chr2	218683151	218683151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgggattgatggcccGccagccgaagccaggactag	14	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:218683151G>A	ENST00000171887.4	-	24	4044	c.3592C>T	c.(3592-3594)Cgg>Tgg	p.R1198W	TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W|TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1198					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGATGGCCCGCCAGCCGAAG	0.632																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3592-3594)Cgg>Tgg		tensin 1							52	56	54					2																	218683151		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683151G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3592C>T	2.37:g.218683151G>A	ENSP00000171887:p.Arg1198Trp					TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W|TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W	p.R1198W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4044	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1198					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3592C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344661	0.61073	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92965	-3.14;1.75;-3.13;-3.13	4.61	4.61	0.57282	.	0.275476	0.28784	N	0.014151	D	0.93569	0.7947	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.994	D	0.93425	0.6780	10	0.72032	D	0.01	.	10.717	0.46019	0.0:0.0:0.6693:0.3307	.	1198;1177;1185	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	W	1198;336;1185;1177	ENSP00000171887:R1198W;ENSP00000394171:R336W;ENSP00000408724:R1185W;ENSP00000406016:R1177W	ENSP00000171887:R1198W	R	-	1	2	TNS1	218391396	0.758000	0.28405	0.999000	0.59377	0.780000	0.44128	0.682000	0.25335	2.403000	0.81681	0.563000	0.77884	CGG		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		6	521	0	0	0	1	0	6	521					A	218683151	G	A	218683151	3	1	46	1	0	0	0	0	1	0	0	0	16395	1086	38	1	1655	1	TNS1	2	218683151	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16089371	218683151	24516222	30	5435											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		7	1801						7	1801	---	---	---	---	-	219134766	G	-	219134766	7	5	46	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-FB-A78T-01A-12D-A32N-08	451615	219134766	24064607	31	5436											
ZNF142	7701	broad.mit.edu	37	chr2	219507561	219507561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagctgcaggggatgcgGccaatgcctgtgtgtcggga	17	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:219507561G>A	ENST00000449707.1	-	8	4099	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G	ZNF142_ENST00000411696.2_Silent_p.G1226G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGATGCGGCCAATGCCTG	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3676-3678)ggC>ggT		zinc finger protein 142							93	105	101					2																	219507561		2139	4234	6373	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507561G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3678C>T	2.37:g.219507561G>A						ZNF142_ENST00000449707.1_Silent_p.G1226G	p.G1226G			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4457	-		Renal(207;0.0474)	1226					Q92510	Silent	SNP	ENST00000449707.1	37	c.3678C>T	CCDS42817.1																																																																																				0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		6	702	0	0	0	1	0	6	702					A	219507561	G	A	219507561	2	1	46	1	0	0	0	0	0	0	0	1	17784	1190	42	2		2	ZNF142	2	219507561	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	372795	219507561	23691812	32	5437											
UGT1A7	54577	broad.mit.edu	37	chr2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaaacccctgtcacgGcatatgatctctacagccac	5	16	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(721-723)Gca>Aca									202	212	208					2																	234591304		2203	4300	6503	SO:0001583	missense	0							g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr					UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	p.A241T	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	721	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		7	1337	0	0	0	1	0	7	1337					A	234591304	G	A	234591304	3	1	46	1	0	0	0	0	1	0	0	0	17004	1203	42	2	723	2	UGT1A7	2	234591304	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	15083743	234591304	8608069	33	5438											
CXCR7	57007	broad.mit.edu	37	chr2	237489775	237489775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgtcttgggctttgccGttcccttctccattatcgct	8	14	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:237489775G>A	ENST00000272928.3	+	2	977	c.667G>A	c.(667-669)Gtt>Att	p.V223I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	223					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GGGCTTTGCCGTTCCCTTCTC	0.567																																						ENST00000272928.3																			0											c.(667-669)Gtt>Att		atypical chemokine receptor 3							120	101	108					2																	237489775		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489775G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.667G>A	2.37:g.237489775G>A	ENSP00000272928:p.Val223Ile						p.V223I	NM_020311.2	NP_064707.1					2	977	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.667G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.085927	0.00371	.	.	ENSG00000144476	ENST00000272928	T	0.35236	1.32	5.7	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	0.187304	0.44285	N	0.000467	T	0.09335	0.0230	N	0.01284	-0.91	0.21553	N	0.999647	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	9	.	.	.	.	6.4353	0.21819	0.5745:0.1246:0.3009:0.0	.	223	P25106	CXCR7_HUMAN	I	223	ENSP00000272928:V223I	.	V	+	1	0	CXCR7	237154514	0.013000	0.17824	0.000000	0.03702	0.006000	0.05464	0.344000	0.19962	-0.397000	0.07691	0.655000	0.94253	GTT		0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		6	440	0	0	0	1	0	6	440					A	237489775	G	A	237489775	3	1	46	1	0	0	0	0	1	0	0	0	4107	1145	40	1	669	1	CXCR7	2	237489775	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2898471	237489775	5709598	34	5439											
ZNF385D	79750	broad.mit.edu	37	chr3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggaggggctggtggaCggacaagggccgggagagca	21	7	0	1	rs571099747		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17923	0.0		0.001	False		,,,				2504	0.0					ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(61-63)cGt>cAt		zinc finger protein 385D							77	72	73					3																	21706481		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706481C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.62G>A	3.37:g.21706481C>T	ENSP00000281523:p.Arg21His					ZNF385D_ENST00000494118.1_Intron	p.R21H	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			2	580	-			21						Missense_Mutation	SNP	ENST00000281523.2	37	c.62G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106592	0.56291	.	.	ENSG00000151789	ENST00000281523	T	0.33654	1.4	5.62	4.75	0.60458	.	0.129051	0.52532	N	0.000066	T	0.35189	0.0923	L	0.55481	1.735	0.38752	D	0.954131	B	0.09022	0.002	B	0.04013	0.001	T	0.23048	-1.0199	10	0.51188	T	0.08	-8.954	13.2857	0.60241	0.0:0.924:0.0:0.076	.	21	Q9H6B1	Z385D_HUMAN	H	21	ENSP00000281523:R21H	ENSP00000281523:R21H	R	-	2	0	ZNF385D	21681485	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.054000	0.57434	1.376000	0.46267	0.591000	0.81541	CGT		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		50	158	0	0	0	1	0	50	158					T	21706481	C	T	21706481	3	4	46	1	0	0	0	0	1	0	0	0	17931	536	19	1	1153	1	ZNF385D	3	21706481	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		21706481	176315949	35	5440											
UBP1	7342	broad.mit.edu	37	chr3	33467138	33467138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgctggtgacgttgcaGcacacatcacatactgaaag	9	10	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:33467138G>A	ENST00000283629.3	-	2	738	c.209C>T	c.(208-210)gCt>gTt	p.A70V	UBP1_ENST00000447368.2_Missense_Mutation_p.A70V|UBP1_ENST00000283628.5_Missense_Mutation_p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	70					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGACGTTGCAGCACACATCAC	0.423																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(208-210)gCt>gTt		upstream binding protein 1 (LBP-1a)							96	77	83					3																	33467138		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33467138G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.209C>T	3.37:g.33467138G>A	ENSP00000283629:p.Ala70Val					UBP1_ENST00000283628.5_Missense_Mutation_p.A70V|UBP1_ENST00000447368.2_Missense_Mutation_p.A70V	p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			2	738	-			70					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.209C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478314	0.84747	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.92	5.92	0.95590	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.92459	3.31	0.80722	D	1	B;D	0.54207	0.275;0.965	B;P	0.55161	0.046;0.77	T	0.74259	-0.3723	10	0.87932	D	0	-11.8325	20.33	0.98713	0.0:0.0:1.0:0.0	.	70;70	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	70	ENSP00000283629:A70V;ENSP00000395558:A70V;ENSP00000283628:A70V;ENSP00000401614:A70V	ENSP00000283628:A70V	A	-	2	0	UBP1	33442142	1.000000	0.71417	0.961000	0.40146	0.928000	0.56348	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GCT		0.423	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		4	134	0	0	0	1	0	4	134					A	33467138	G	A	33467138	3	1	46	1	0	0	0	0	1	0	0	0	16949	971	34	2	1473	2	UBP1	3	33467138	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	11760657	33467138	164555292	36	5441											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132851	119132851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgagtcgagtctggggcCctttattccctcagagcctc	10	14	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:119132851C>T	ENST00000264245.4	+	12	2607	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	692	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCTGGGGCCCTTTATTCCC	0.562																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2074-2076)cCc>cTc		Rho GTPase activating protein 31							127	129	128					3																	119132851		1949	4146	6095	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119132851C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2075C>T	3.37:g.119132851C>T	ENSP00000264245:p.Pro692Leu						p.P692L	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2607	+			692			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2075C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896949	0.33535	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06142	3.34	4.89	4.01	0.46588	.	0.998160	0.08112	N	0.996113	T	0.06325	0.0163	L	0.32530	0.975	0.09310	N	0.999999	B	0.27229	0.172	B	0.22386	0.039	T	0.34750	-0.9816	10	0.48119	T	0.1	.	7.3783	0.26841	0.1709:0.7374:0.0:0.0917	.	692	Q2M1Z3	RHG31_HUMAN	L	692	ENSP00000264245:P692L	ENSP00000264245:P692L	P	+	2	0	ARHGAP31	120615541	0.000000	0.05858	0.016000	0.15963	0.012000	0.07955	1.015000	0.29963	1.284000	0.44531	-0.169000	0.13324	CCC		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			178	622	0	0	0	1	0	178	622					T	119132851	C	T	119132851	3	4	46	1	0	0	0	0	1	0	0	0	880	623	22	2	2121	2	ARHGAP31	3	119132851	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	85665713	119132851	78889579	37	5442											
POLQ	10721	broad.mit.edu	37	chr3	121192310	121192310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatctctctatttggggGcaacttcaattccaaaaata	5	9	4	0	rs375962847		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:121192310G>A	ENST00000264233.5	-	21	6558	c.6430C>T	c.(6430-6432)Ccc>Tcc	p.P2144S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2144					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTATTTGGGGGCAACTTCAAT	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6430-6432)Ccc>Tcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							176	183	181					3																	121192310		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192310G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6430C>T	3.37:g.121192310G>A	ENSP00000264233:p.Pro2144Ser						p.P2144S	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6558	-			2144					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6430C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617703	0.87359	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58506	0.33	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.82923	2.615	0.42714	D	0.993654	D;D	0.89917	0.991;1.0	P;D	0.87578	0.634;0.998	T	0.80331	-0.1427	10	0.87932	D	0	.	14.6445	0.68751	0.0692:0.0:0.9307:0.0	.	2144;1316	O75417;O75417-2	DPOLQ_HUMAN;.	S	1767;2144;2280	ENSP00000264233:P2144S	ENSP00000264233:P2144S	P	-	1	0	POLQ	122675000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.952000	0.75989	2.847000	0.97988	0.591000	0.81541	CCC		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		7	875	0	0	0	1	0	7	875					A	121192310	G	A	121192310	3	1	46	1	0	0	0	0	1	0	0	0	12250	1203	42	2	1382	2	POLQ	3	121192310	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2059459	121192310	76830120	38	5443											
PARP9	83666	broad.mit.edu	37	chr3	122274267	122274267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagctttaaaggcagCaacagtagggtcctcattgc	11	9	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:122274267C>A	ENST00000360356.2	-	4	1083	c.856G>T	c.(856-858)Gct>Tct	p.A286S	PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000462315.1_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	286	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTAAAGGCAGCAACAGTAGGG	0.448																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(751-753)Gct>Tct		poly (ADP-ribose) polymerase family, member 9							169	166	167					3																	122274267		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274267C>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.856G>T	3.37:g.122274267C>A	ENSP00000353512:p.Ala286Ser					PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.A286S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S	p.A251S	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1044	-			286			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.751G>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746139	0.49151	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.38	4.37	0.52481	Appr-1-p processing (1);	0.787865	0.11079	N	0.601994	T	0.23965	0.0580	L	0.58428	1.81	0.28693	N	0.904515	B;P;P	0.46395	0.094;0.877;0.835	B;B;P	0.45794	0.056;0.339;0.493	T	0.05241	-1.0897	10	0.15499	T	0.54	.	7.7777	0.29048	0.0:0.7824:0.0:0.2176	.	251;286;251	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	S	286;251;251;209;251	ENSP00000353512:A286S;ENSP00000419506:A251S;ENSP00000419001:A251S;ENSP00000418894:A251S	ENSP00000353512:A286S	A	-	1	0	PARP9	123756957	0.010000	0.17322	0.992000	0.48379	0.940000	0.58332	0.631000	0.24568	1.254000	0.44035	0.655000	0.94253	GCT		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		182	540	1	0	2.27665e-64	1	2.57361e-64	182	540					A	122274267	C	A	122274267	3	1	46	1	0	0	0	0	1	0	0	0	11508	710	25	3	1793	3	PARP9	3	122274267	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1081957	122274267	75748163	39	5444											
CLSTN2	64084	broad.mit.edu	37	chr3	140282022	140282022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcatcctgagtcccGgagtagcatccagcacagtt	9	13	1	1	rs560530846		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:140282022G>A	ENST00000458420.3	+	15	2649	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	820					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)			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						CCTGAGTCCCGGAGTAGCATC	0.512										HNSCC(16;0.037)			G|||	1	0.000199681	0.0	0.0	5008	,	,		21521	0.0		0.0	False		,,,				2504	0.001				GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				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						c.(2458-2460)cGg>cAg		calsyntenin 2							137	121	126					3																	140282022		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282022G>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.2459G>A	3.37:g.140282022G>A	ENSP00000402460:p.Arg820Gln	HNSCC(16;0.037)					p.R820Q	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			15	2649	+			820					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2459G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048756	0.19827	.	.	ENSG00000158258	ENST00000458420	T	0.32515	1.45	5.4	-1.53	0.08611	.	1.541910	0.04448	N	0.372030	T	0.11239	0.0274	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27157	-1.0082	9	.	.	.	-9.2662	9.9589	0.41684	0.5434:0.0:0.4566:0.0	.	820	Q9H4D0	CSTN2_HUMAN	Q	820	ENSP00000402460:R820Q	.	R	+	2	0	CLSTN2	141764712	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	0.351000	0.20096	-0.222000	0.09958	0.655000	0.94253	CGG		0.512	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		112	345	0	0	0	1	0	112	345					A	140282022	G	A	140282022	3	1	46	1	0	0	0	0	1	0	0	0	3571	1116	39	1	2517	1	CLSTN2	3	140282022	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	18007755	140282022	57740408	40	5445											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T													tctgttcctgattctaaacaINStttttttttcttgatttatc					rs373108427		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		7	172						7	172	---	---	---	---	T	154032978	-	T	154032977	7	5	46	1	0	1	1	0	0	0	0	0	4525	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	13750955	154032977	43989453	41	5446											
ABCF3	55324	broad.mit.edu	37	chr3	183911015	183911015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttgctcagatgactAtgccctggtgaggcctcatt	11	11	2	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:183911015A>G	ENST00000429586.2	+	19	2061	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	626	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGATGACTATGCCCTGGTG	0.557																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1876-1878)Atg>Gtg		ATP-binding cassette, sub-family F (GCN20), member 3							90	89	90					3																	183911015		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183911015A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1876A>G	3.37:g.183911015A>G	ENSP00000411471:p.Met626Val					ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	p.M626V	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2061	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		626			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1876A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107864	0.56291	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.84800	-1.9;-1.9	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.10945	0.07	0.80722	D	1	P;P	0.43352	0.619;0.804	B;B	0.44044	0.341;0.439	T	0.80070	-0.1536	10	0.52906	T	0.07	-29.4571	13.9755	0.64271	1.0:0.0:0.0:0.0	.	620;626	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	626;620	ENSP00000411471:M626V;ENSP00000292808:M620V	ENSP00000292808:M620V	M	+	1	0	ABCF3	185393709	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.140000	0.66376	0.460000	0.39030	ATG		0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		144	415	0	0	0	1	0	144	415					G	183911015	A	G	183911015	3	3	46	1	0	0	0	0	1	0	0	0	67	449	16	4	1950	4	ABCF3	3	183911015	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	29878038	183911015	14111415	42	5447											
WDFY3	23001	broad.mit.edu	37	chr4	85708746	85708746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtgggtcccaggcGccaaaccaatgaggcaattt	11	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:85708746G>A	ENST00000295888.4	-	23	4197	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1264C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1264					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTCCCAGGCGCCAAACCAAT	0.473																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3790-3792)Cgc>Tgc		WD repeat and FYVE domain containing 3							78	73	75					4																	85708746		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85708746G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3790C>T	4.37:g.85708746G>A	ENSP00000295888:p.Arg1264Cys					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1264C	p.R1264C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	23	4197	-		Hepatocellular(203;0.114)	1264					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3790C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384949	0.95967	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	P	0.50791	0.65	T	0.79472	-0.1789	10	0.87932	D	0	.	20.3523	0.98815	0.0:0.0:1.0:0.0	.	1264	Q8IZQ1	WDFY3_HUMAN	C	1264	ENSP00000318466:R1264C;ENSP00000295888:R1264C	ENSP00000295888:R1264C	R	-	1	0	WDFY3	85927770	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.464000	0.97655	2.821000	0.97095	0.484000	0.47621	CGC		0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	306	0	0	0	1	0	5	306					A	85708746	G	A	85708746	3	1	46	1	0	0	0	0	1	0	0	0	17324	1087	38	1	6974	1	WDFY3	4	85708746	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		85708746	105445530	43	5448											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	238						7	238	---	---	---	---	-	140810641	GCT	-	140810639	7	5	46	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-FB-A78T-01A-12D-A32N-08	55101893	140810639	50343637	44	5449											
SDHA	6389	broad.mit.edu	37	chr5	236660	236660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaactcgctcttggacCtggttgtctttggtcgggca	14	10	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:236660C>T	ENST00000264932.6	+	10	1493	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	SDHA_ENST00000504309.1_Silent_p.L460L|SDHA_ENST00000510361.1_Silent_p.L412L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	460					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCTCTTGGACCTGGTTGTCTT	0.597									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1378-1380)Ctg>Ttg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						91	82	85					5																	236660		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236660C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1378C>T	5.37:g.236660C>T						SDHA_ENST00000504309.1_Silent_p.L460L|SDHA_ENST00000510361.1_Silent_p.L412L	p.L460L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1493	+			460					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1378C>T	CCDS3853.1																																																																																				0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	417	0	0	0	1	0	5	417					T	236660	C	T	236660	2	4	46	1	0	0	0	0	0	0	0	1	14013	680	24	2		2	SDHA	5	236660	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		236660	180678600	45	5450											
TRIO	7204	broad.mit.edu	37	chr5	14369548	14369548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactggtgtggcggggcGgataagctgggcccaaactc	17	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:14369548G>A	ENST00000344204.4	+	18	3156	c.3132G>A	c.(3130-3132)gcG>gcA	p.A1044A	TRIO_ENST00000537187.1_Silent_p.A1044A|TRIO_ENST00000509967.2_Silent_p.A995A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1044					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGCGGGGCGGATAAGCTGG	0.587																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3130-3132)gcG>gcA		trio Rho guanine nucleotide exchange factor							87	88	87					5																	14369548		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14369548G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3132G>A	5.37:g.14369548G>A						TRIO_ENST00000537187.1_Silent_p.A1044A|TRIO_ENST00000509967.2_Silent_p.A995A	p.A1044A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			18	3156	+	Lung NSC(4;0.000742)		1044					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3132G>A	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	377	0	0	0	1	0	5	377					A	14369548	G	A	14369548	2	1	46	1	0	0	0	0	0	0	0	1	16605	1103	39	1		1	TRIO	5	14369548	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14132888	14369548	166545712	46	5451											
POLK	51426	broad.mit.edu	37	chr5	74886218	74886218	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcaatacagcctatgtcaaGaactttgcagtgagcttgct	9	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:74886218G>C	ENST00000241436.4	+	11	1481	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	437					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCTATGTCAAGAACTTTGCAG	0.338								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1309-1311)Gaa>Caa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							139	142	141					5																	74886218		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74886218G>C	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1309G>C	5.37:g.74886218G>C	ENSP00000241436:p.Glu437Gln					POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q	p.E437Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	11	1481	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	437					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1309G>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845069	0.71603	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.44083	1.25;0.93;0.93;1.25	5.41	5.41	0.78517	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (2);	0.088157	0.85682	D	0.000000	T	0.56587	0.1995	L	0.43152	1.355	0.80722	D	1	P;D;D	0.56746	0.603;0.969;0.977	P;P;D	0.65573	0.457;0.662;0.936	T	0.52931	-0.8509	10	0.46703	T	0.11	-19.1778	17.7307	0.88376	0.0:0.0:1.0:0.0	.	437;437;437	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	Q	437;437;437;347	ENSP00000241436:E437Q;ENSP00000424174:E437Q;ENSP00000425075:E437Q;ENSP00000369848:E347Q	ENSP00000241436:E437Q	E	+	1	0	POLK	74921974	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	9.536000	0.98067	2.701000	0.92244	0.591000	0.81541	GAA		0.338	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		23	385	0	0	0	1	0	23	385					C	74886218	G	C	74886218	3	2	46	1	0	0	0	0	1	0	0	0	12246	943	33	5	1347	5	POLK	5	74886218	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	60516670	74886218	106029042	47	5452											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	917	0	0	0	1	0	6	917					A	135390519	G	A	135390519	3	1	46	1	0	0	0	0	1	0	0	0	15872	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	60504301	135390519	45524741	48	5453											
PCDHA9	9752	broad.mit.edu	37	chr5	140229343	140229343	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagagtgtgtccgcctaCgagctggtggttaccgcgcg	16	12	0	1	rs150560525		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140229343C>A	ENST00000532602.1	+	1	2296	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.Y421*|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TGTCCGCCTACGAGCTGGTGG	0.642																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1261-1263)taC>taA									100	93	95					5																	140229343		2196	4273	6469	SO:0001587	stop_gained	0							g.chr5:140229343C>A	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.1263C>A	5.37:g.140229343C>A	ENSP00000436042:p.Tyr421*					PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y421*|PCDHA1_ENST00000394633.3_Intron	p.Y421*	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1987	+								O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.1263C>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.376177	0.97515	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.6	-1.97	0.07503	.	0.000000	0.29522	U	0.011906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2054	0.43109	0.0:0.5102:0.0:0.4898	.	.	.	.	X	421	.	ENSP00000367362:Y421X	Y	+	3	2	PCDHA9	140209527	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.684000	0.05173	-0.474000	0.06862	-0.752000	0.03492	TAC		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		199	570	1	0	4.56393e-95	1	5.18427e-95	199	570					A	140229343	C	A	140229343	4	1	46	1	0	0	0	0	0	1	0	0	11573	547	19	3	1265	3	PCDHA9	5	140229343	Nonsense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4838824	140229343	40685917	49	5454											
PCDHA10	56139	broad.mit.edu	37	chr5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGcatcgcgcaggacctggggc	15	15	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(136-138)cGc>cAc									48	55	53					5																	140235770		2196	4269	6465	SO:0001583	missense	0							g.chr5:140235770G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.137G>A	5.37:g.140235770G>A	ENSP00000304234:p.Arg46His					PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R46H	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	137	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.137G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373889	0.42105	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27256	1.68;1.68	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27765	0.0683	M	0.69185	2.1	0.21675	N	0.999599	P;P;P	0.52692	0.955;0.848;0.468	B;B;B	0.41332	0.354;0.282;0.097	T	0.27226	-1.0080	9	0.59425	D	0.04	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	46;46;46	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	46	ENSP00000421030:R46H;ENSP00000304234:R46H	ENSP00000304234:R46H	R	+	2	0	PCDHA10	140215954	0.013000	0.17824	1.000000	0.80357	0.890000	0.51754	2.142000	0.42177	2.391000	0.81399	0.556000	0.70494	CGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	608	0	0	0	1	0	5	608					A	140235770	G	A	140235770	3	1	46	1	0	0	0	0	1	0	0	0	11562	1087	38	1	139	1	PCDHA10	5	140235770	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6427	140235770	40679490	50	5455											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080672	146080672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgctagtaattctcccGtgtggttgaattctaccgta	9	10	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:146080672G>A	ENST00000394413.3	-	2	674	c.104C>T	c.(103-105)aCg>aTg	p.T35M	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCTCCCGTGTGGTTGAA	0.423																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(103-105)aCg>aTg		protein phosphatase 2, regulatory subunit B, beta							265	276	272					5																	146080672		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080672G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.104C>T	5.37:g.146080672G>A	ENSP00000377935:p.Thr35Met					PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000530902.1_5'UTR	p.T35M			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	674	-			35					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.104C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662241	0.88251	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.71341	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;-0.56	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.092479	0.64402	D	0.000001	D	0.85141	0.5629	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.993;0.993;0.998;0.996;0.984	P;P;P;P;P;P	0.61397	0.888;0.828;0.828;0.888;0.88;0.828	D	0.85944	0.1460	10	0.87932	D	0	-17.9695	20.6593	0.99626	0.0:0.0:1.0:0.0	.	93;41;24;101;38;35	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	35;24;101;35;35;35;24;38;41;93;15	ENSP00000377935:T35M;ENSP00000431320:T24M;ENSP00000377936:T101M;ENSP00000377933:T35M;ENSP00000349283:T35M;ENSP00000398779:T35M;ENSP00000377932:T24M;ENSP00000336591:T38M;ENSP00000421396:T41M;ENSP00000377931:T93M;ENSP00000421224:T15M	ENSP00000336591:T38M	T	-	2	0	AC011357.1	146060865	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.004000	0.88535	2.885000	0.99019	0.655000	0.94253	ACG		0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	1400	0	0	0	1	0	8	1400					A	146080672	G	A	146080672	3	1	46	1	0	0	0	0	1	0	0	0	12432	1145	40	1	1259	1	PPP2R2B	5	146080672	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5844902	146080672	34834588	51	5456											
NOP16	51491	broad.mit.edu	37	chr5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgcctccgggttttgCccttggccttgggcatcgcg	12	14	1	0	rs371311461		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(16-18)gGc>gAc		NOP16 nucleolar protein		C	ASP/GLY	0,4344		0,0,2172	60	67	65		17	5.6	1	5		65	1,8577		0,1,4288	no	missense	NOP16	NM_016391.4	94	0,1,6460	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	6/179	175815524	1,12921	2172	4289	6461	SO:0001583	missense	51491					nucleolus		g.chr5:175815524C>T		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.17G>A	5.37:g.175815524C>T	ENSP00000373810:p.Gly6Asp					NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D	p.G6D			Q9Y3C1	NOP16_HUMAN			1	452	-			6					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.17G>A	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532671	0.85812	0.0	1.17E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.67050	0.2852	L	0.47716	1.5	0.40902	D	0.984165	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.988;0.999;0.999	T	0.61579	-0.7034	8	0.25751	T	0.34	.	12.1692	0.54148	0.0:0.9225:0.0:0.0775	.	6;6;6;6	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	D	6	.	ENSP00000373810:G6D	G	-	2	0	NOP16	175748130	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.518000	0.45537	2.894000	0.99253	0.655000	0.94253	GGC		0.602	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		6	548	0	0	0	1	0	6	548					T	175815524	C	T	175815524	3	4	46	1	0	0	0	0	1	0	0	0	10579	739	26	2	538	2	NOP16	5	175815524	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29734852	175815524	5099736	52	5457											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782982	27782982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcttccaaggctatgg	10	16	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:27782982G>A	ENST00000359465.4	+	1	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CCCGACACCGGCATCTCTTCC	0.542																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(160-162)gGc>gAc		histone cluster 1, H2bm							187	177	181					6																	27782982		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782982G>A	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.161G>A	6.37:g.27782982G>A	ENSP00000352442:p.Gly54Asp						p.G54D	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	161	+			54					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.161G>A	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332818	0.41297	.	.	ENSG00000196374	ENST00000359465	T	0.69435	-0.4	4.29	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.86648	0.5983	H	0.98487	4.245	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	D	0.91772	0.5428	10	0.87932	D	0	.	16.2598	0.82535	0.0:0.0:1.0:0.0	.	54	Q99879	H2B1M_HUMAN	D	54	ENSP00000352442:G54D	ENSP00000352442:G54D	G	+	2	0	HIST1H2BM	27890961	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.147000	0.94646	2.373000	0.80994	0.563000	0.77884	GGC		0.542	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		7	802	0	0	0	1	0	7	802					A	27782982	G	A	27782982	3	1	46	1	0	0	0	0	1	0	0	0	7182	1203	42	2	163	2	HIST1H2BM	6	27782982	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		27782982	143332085	53	5458											
MAS1L	116511	broad.mit.edu	37	chr6	29455344	29455344	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagcagcgaccaggtggagGatgtataccatgtagggatt	14	7	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:29455344G>T	ENST00000377127.3	-	1	394	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	112					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCAGGTGGAGGATGTATACCA	0.527																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(334-336)atC>atA		MAS1 oncogene-like							72	67	69					6																	29455344		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455344G>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.336C>A	6.37:g.29455344G>T							p.I112I	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	394	-			112					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.336C>A	CCDS4661.1																																																																																				0.527	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		64	188	1	0	2.165e-29	1	2.40099e-29	64	188					T	29455344	G	T	29455344	2	4	46	1	0	0	0	0	0	0	0	1	9362	1164	41	3		3	MAS1L	6	29455344	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1672362	29455344	141659723	54	5459											
AGPAT1	10554	broad.mit.edu	37	chr6	32139088	32139088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacttcatgttctcgacGttgcgtcctcgcacggcaca	8	16	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:32139088G>A	ENST00000395499.1	-	2	765	c.186C>T	c.(184-186)aaC>aaT	p.N62N	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000375104.2_Silent_p.N62N|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Silent_p.N62N|AGPAT1_ENST00000412465.2_De_novo_Start_InFrame|AGPAT1_ENST00000375107.3_Silent_p.N62N			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	62					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGTTCTCGACGTTGCGTCCTC	0.562																																						ENST00000412465.2																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12								1-acylglycerol-3-phosphate O-acyltransferase 1							188	161	171					6																	32139088		1511	2708	4219	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32139088G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.186C>T	6.37:g.32139088G>A						AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395496.1_Silent_p.N62N|AGPAT1_ENST00000395499.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000375104.2_Silent_p.N62N|AGPAT1_ENST00000375107.3_Silent_p.N62N|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.N62N				Q99943	PLCA_HUMAN			0	440	-								A2BFI5|Q5BL03	Translation_Start_Site	SNP	ENST00000395499.1	37		CCDS4744.1																																																																																				0.562	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		6	588	0	0	0	1	0	6	588					A	32139088	G	A	32139088	2	1	46	1	0	0	0	0	0	0	0	1	386	1136	40	1		1	AGPAT1	6	32139088	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2683744	32139088	138975979	55	5460											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	158	0	0	0	1	0	4	158					A	45390463	G	A	45390463	2	1	46	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	13251375	45390463	125724604	56	5461											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	304						10	304	---	---	---	---	A	46660415	-	A	46660414	7	5	46	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	1269951	46660414	124454653	57	5462											
MDN1	23195	broad.mit.edu	37	chr6	90372687	90372687	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatttctcatcatcctcttCtgaaagggaaggcactgagc	9	10	4	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:90372687C>A	ENST00000369393.3	-	86	14352		c.e86-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCCTCTTCTGAAAGGGAA	0.512																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e86-1		MDN1, midasin homolog (yeast)							156	141	146					6																	90372687		2203	4300	6503	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90372687C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14237-1G>T	6.37:g.90372687C>A						MDN1_ENST00000428876.1_Splice_Site				Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14352	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)						O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787806	0.70337	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7756	0.69729	0.0:0.8547:0.1453:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90429408	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.378000	0.44309	2.731000	0.93534	0.655000	0.94253	.		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Intron	5	487	1	0	0.000602214	1	0.000629099	5	487					A	90372687	C	A	90372687	5	1	46	1	0	0	0	0	0	0	1	0	9456	927	32	3	2622	3	MDN1	6	90372687	Splice_Site	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	43712273	90372687	80742380	58	5463											
MDN1	23195	broad.mit.edu	37	chr6	90432786	90432786	+	Frame_Shift_Del	DEL	A	A	-													gcatcaactgacaccagcggAaaaggtcccggaggttgaat							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:90432786delA	ENST00000369393.3	-	40	5970	c.5855delT	c.(5854-5856)ttcfs	p.F1952fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1952					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACACCAGCGGAAAAGGTCCCG	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5854-5856)tcfs		MDN1, midasin homolog (yeast)							137	151	146					6																	90432786		2203	4300	6503	SO:0001589	frameshift_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432786delA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5855delT	6.37:g.90432786delA	ENSP00000358400:p.Phe1952fs					MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs	p.F1952fs			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5970	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1952					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.5855delT	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	1038						7	1038	---	---	---	---	-	90432786	A	-	90432786	7	5	46	1	0	1	0	1	0	0	0	0	9456	246	9	0	11187	0	MDN1	6	90432786	Frame_Shift_Del	DEL	A	TCGA-FB-A78T-01A-12D-A32N-08	60099	90432786	80682281	59	5464											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	15	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			6	763	0	0	0	1	0	6	763					C	139266690	T	C	139266690	3	2	46	1	0	0	0	0	1	0	0	0	13278	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	48833904	139266690	31848377	60	5465											
SASH1	23328	broad.mit.edu	37	chr6	148855953	148855953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttaagctgctggaggagGaagacttggatgagttaaat	13	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:148855953G>A	ENST00000367467.3	+	16	2486	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	671	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTGGAGGAGGAAGACTTGGA	0.478																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2011-2013)Gaa>Aaa		SAM and SH3 domain containing 1							135	127	130					6																	148855953		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855953G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2011G>A	6.37:g.148855953G>A	ENSP00000356437:p.Glu671Lys						p.E671K	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2486	+		Ovarian(120;0.0169)	671			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2011G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473339	0.96274	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.54675	0.56	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.55103	1.725	0.58432	D	0.999999	D;D	0.67145	0.989;0.996	D;D	0.67382	0.951;0.951	T	0.63897	-0.6533	10	0.54805	T	0.06	-30.787	18.4822	0.90817	0.0:0.0:1.0:0.0	.	652;671	Q6P4R9;O94885	.;SASH1_HUMAN	K	671;432;81	ENSP00000356437:E671K	ENSP00000356437:E671K	E	+	1	0	SASH1	148897646	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.364000	0.80123	0.561000	0.74099	GAA		0.478	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		5	463	0	0	0	1	0	5	463					A	148855953	G	A	148855953	3	1	46	1	0	0	0	0	1	0	0	0	13898	1175	41	2	2073	2	SASH1	6	148855953	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9589263	148855953	22259114	61	5466											
NPTX2	4885	broad.mit.edu	37	chr7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgtccctcccactccGcacaaactacctatacggca	6	17	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:98254285G>A	ENST00000265634.3	+	3	860	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	232	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R232H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597																																						ENST00000265634.3																			1	Substitution - Missense(1)	p.R232H(1)	breast(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(694-696)cGc>cAc		neuronal pentraxin II							229	184	199					7																	98254285		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254285G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.695G>A	7.37:g.98254285G>A	ENSP00000265634:p.Arg232His						p.R232H	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	860	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		232			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.695G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322440	0.81580	.	.	ENSG00000106236	ENST00000265634	T	0.16073	2.37	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68977	-0.5267	10	0.87932	D	0	-16.1906	18.5305	0.90990	0.0:0.0:1.0:0.0	.	232	P47972	NPTX2_HUMAN	H	232	ENSP00000265634:R232H	ENSP00000265634:R232H	R	+	2	0	NPTX2	98092221	1.000000	0.71417	0.984000	0.44739	0.246000	0.25737	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	CGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		7	1045	0	0	0	1	0	7	1045					A	98254285	G	A	98254285	3	1	46	1	0	0	0	0	1	0	0	0	10645	1087	38	1	705	1	NPTX2	7	98254285	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		98254285	60884378	62	5467											
PIK3CG	5294	broad.mit.edu	37	chr7	106508903	106508903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggcactgcctcaagaaCggagaagagattcacgtggt	14	8	2	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:106508903C>T	ENST00000359195.3	+	2	1207	c.897C>T	c.(895-897)aaC>aaT	p.N299N	PIK3CG_ENST00000496166.1_Silent_p.N299N|PIK3CG_ENST00000440650.2_Silent_p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	299	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N299N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCTCAAGAACGGAGAAGAGA	0.587																																						ENST00000359195.3																			1	Substitution - coding silent(1)	p.N299N(1)	endometrium(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(895-897)aaC>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							49	48	48					7																	106508903		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508903C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.897C>T	7.37:g.106508903C>T						PIK3CG_ENST00000440650.2_Silent_p.N299N|PIK3CG_ENST00000496166.1_Silent_p.N299N	p.N299N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1207	+			299					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.897C>T	CCDS5739.1																																																																																				0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			55	196	0	0	0	1	0	55	196					T	106508903	C	T	106508903	2	4	46	1	0	0	0	0	0	0	0	1	11958	535	19	1		1	PIK3CG	7	106508903	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	8254618	106508903	52629760	63	5468											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138738203	138738203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccggcactaaccttttcCgtatttgttttcatgagttt	6	10	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:138738203C>T	ENST00000242351.5	-	12	2759	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	815	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TAACCTTTTCCGTATTTGTTT	0.363																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2443-2445)Gga>Aga		zinc finger CCCH-type, antiviral 1							117	121	120					7																	138738203		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138738203C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2443G>A	7.37:g.138738203C>T	ENSP00000242351:p.Gly815Arg					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	p.G815R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			12	2759	-			815			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.2443G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550249	0.65311	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.78364	-1.17;-1.17	5.2	5.2	0.72013	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.48767	D	0.000172	D	0.90971	0.7161	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93057	0.6471	10	0.87932	D	0	.	14.6188	0.68569	0.0:1.0:0.0:0.0	.	815	Q7Z2W4	ZCCHV_HUMAN	R	815;937	ENSP00000242351:G815R;ENSP00000418385:G937R	ENSP00000242351:G815R	G	-	1	0	ZC3HAV1	138388743	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.613000	0.67688	2.584000	0.87258	0.563000	0.77884	GGA		0.363	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		11	413	0	0	0	1	0	11	413					T	138738203	C	T	138738203	3	4	46	1	0	0	0	0	1	0	0	0	17628	661	23	1	273	1	ZC3HAV1	7	138738203	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32229300	138738203	20400460	64	5469											
AGPAT5	55326	broad.mit.edu	37	chr8	6588234	6588234	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggtcctgtctctgcagttGactggattgttgctgacatc	12	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:6588234G>T	ENST00000285518.6	+	3	604	c.292G>T	c.(292-294)Gac>Tac	p.D98Y		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	98					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|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)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CTCTGCAGTTGACTGGATTGT	0.517																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(292-294)Gac>Tac		1-acylglycerol-3-phosphate O-acyltransferase 5							200	170	180					8																	6588234		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6588234G>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.292G>T	8.37:g.6588234G>T	ENSP00000285518:p.Asp98Tyr						p.D98Y	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	3	604	+			98					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.292G>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101947	0.76983	.	.	ENSG00000155189	ENST00000285518	D	0.99934	-8.28	5.65	5.65	0.86999	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96137	0.9097	10	0.87932	D	0	-9.7544	17.2308	0.86984	0.0:0.0:1.0:0.0	.	98	Q9NUQ2	PLCE_HUMAN	Y	98	ENSP00000285518:D98Y	ENSP00000285518:D98Y	D	+	1	0	AGPAT5	6575642	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.163000	0.94750	2.666000	0.90696	0.557000	0.71058	GAC		0.517	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		4	192	1	0	1	1	1	4	192					T	6588234	G	T	6588234	3	4	46	1	0	0	0	0	1	0	0	0	390	1290	45	3	302	3	AGPAT5	8	6588234	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		6588234	139775788	65	5470											
SFTPC	649	broad.mit.edu	37	chr8	22019355	22019355	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagatggatgtgggcaGcaaagaggtcctgatggaga	16	6	0	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:22019355G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGGGCAGCAAAGAGGTC	0.582																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(13-15)aGc>aAc		surfactant protein C							164	188	180					8																	22019355		2168	4261	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019355G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019355G>A	Exception_encountered					SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N	p.S5N			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	46	+			5					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.14G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		5	449	0	0	0	1	0	5	449					A	22019355	G	A	22019355	1	1	46	0	1	0	0	0	0	0	0	0	14242	971	34	2		2	SFTPC	8	22019355	5'Flank	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	15431121	22019355	124344667	66	5471											
PENK	5179	broad.mit.edu	37	chr8	57353857	57353857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcataaatcctccgtatcTtttttccatttcaggaactt	3	11	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:57353857T>C	ENST00000314922.3	-	2	854	c.778A>G	c.(778-780)Aga>Gga	p.R260G	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.R260G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	260					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCGTATCTTTTTTCCATT	0.498																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(778-780)Aga>Gga		proenkephalin							78	88	85					8																	57353857		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353857T>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.778A>G	8.37:g.57353857T>C	ENSP00000324248:p.Arg260Gly					PENK_ENST00000451791.2_Missense_Mutation_p.R260G	p.R260G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	854	-		all_lung(136;0.229)	260					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.778A>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909140	0.72868	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	D;D	0.82619	-1.63;-1.63	5.71	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88660	0.3188	10	0.87932	D	0	-25.0477	11.9521	0.52961	0.0:0.0:0.2758:0.7242	.	260	P01210	PENK_HUMAN	G	260	ENSP00000324248:R260G;ENSP00000400894:R260G	ENSP00000324248:R260G	R	-	1	2	PENK	57516411	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	2.688000	0.46984	0.391000	0.25143	0.533000	0.62120	AGA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			5	620	0	0	0	1	0	5	620					C	57353857	T	C	57353857	3	2	46	1	0	0	0	0	1	0	0	0	11769	1617	56	4	29	4	PENK	8	57353857	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	35334502	57353857	89010165	67	5472											
KCNB2	9312	broad.mit.edu	37	chr8	73849840	73849840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgctcactaccccgcaGcacatcagtaccatcctctt	4	17	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73849840G>A	ENST00000523207.1	+	3	2838	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	750					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTACCCCGCAGCACATCAGTA	0.572																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2248-2250)caG>caA		potassium voltage-gated channel, Shab-related subfamily, member 2							104	111	108					8																	73849840		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849840G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2250G>A	8.37:g.73849840G>A							p.Q750Q	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2838	+	Breast(64;0.137)		750					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2250G>A	CCDS6209.1																																																																																				0.572	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	875	0	0	0	1	0	7	875					A	73849840	G	A	73849840	2	1	46	1	0	0	0	0	0	0	0	1	8043	962	34	2		2	KCNB2	8	73849840	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16495983	73849840	72514182	68	5473											
TERF1	7013	broad.mit.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-													aggtgcaggtgggggcccccGaggaggaggaggaggaggag							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(163-165)del		telomeric repeat binding factor (NIMA-interacting) 1																																				SO:0001651	inframe_deletion	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921284_73921286delGAG	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del					TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	186_188	+	Breast(64;0.218)		62			Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	ENST00000276603.5	37	c.163_165delGAG	CCDS6211.1																																																																																				0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		9	143						9	143	---	---	---	---	-	73921286	GAG	-	73921284	7	5	46	1	0	1	0	1	0	0	0	0	15813	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-FB-A78T-01A-12D-A32N-08	71444	73921284	72442738	69	5474											
COL22A1	169044	broad.mit.edu	37	chr8	139838972	139838972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaggttttcctgaaccGgaaggttgtgacaaaggcgt	14	8	0	3	rs138591562		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:139838972G>A	ENST00000303045.6	-	6	1344	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	300	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			TTCCTGAACCGGAAGGTTGTG	0.517										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(898-900)Cgg>Tgg		collagen, type XXII, alpha 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	126	104	111		898	5.2	1	8	dbSNP_134	111	0,8600		0,0,4300	yes	missense	COL22A1	NM_152888.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	300/1627	139838972	1,13005	2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139838972G>A	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.898C>T	8.37:g.139838972G>A	ENSP00000303153:p.Arg300Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	p.R300W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		6	1344	-	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)		300			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.898C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404229	0.83230	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.21734	1.99;1.99	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.167535	0.27881	N	0.017469	T	0.46718	0.1407	M	0.83774	2.66	0.39206	D	0.963233	D	0.89917	1.0	D	0.69654	0.965	T	0.52358	-0.8586	9	.	.	.	.	11.6388	0.51220	0.0:0.0:0.7166:0.2834	.	300	Q8NFW1	COMA1_HUMAN	W	300	ENSP00000303153:R300W;ENSP00000387655:R300W	.	R	-	1	2	COL22A1	139908154	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.826000	0.75298	2.452000	0.82932	0.644000	0.83932	CGG		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	261	0	0	0	1	0	4	261					A	139838972	G	A	139838972	3	1	46	1	0	0	0	0	1	0	0	0	3690	1115	39	1	4222	1	COL22A1	8	139838972	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	65917688	139838972	6525050	70	5475											
CYP11B2	1585	broad.mit.edu	37	chr8	143994080	143994080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgctggggattataccGctcaggcctcgggaacaagg	14	12	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:143994080G>A	ENST00000323110.2	-	8	1266	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					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)			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)	GGATTATACCGCTCAGGCCTC	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1264-1266)Cgg>Tgg		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						86	90	89					8																	143994080		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.chr8:143994080G>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.1264C>T	8.37:g.143994080G>A	ENSP00000325822:p.Arg422Trp						p.R422W	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1266	-	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)		422					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1264C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.511841	0.44660	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	0.551	0.17225	.	0.399630	0.21610	N	0.071815	T	0.78272	0.4257	M	0.89968	3.075	0.26442	N	0.975755	D	0.76494	0.999	D	0.64877	0.93	T	0.67142	-0.5745	10	0.87932	D	0	.	3.2888	0.06942	0.1067:0.1729:0.5433:0.1771	.	422	P19099	C11B2_HUMAN	W	422	ENSP00000325822:R422W	ENSP00000325822:R422W	R	-	1	2	CYP11B2	143991082	0.994000	0.37717	0.171000	0.22900	0.001000	0.01503	1.534000	0.36051	0.253000	0.21552	-0.302000	0.09304	CGG		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			6	474	0	0	0	1	0	6	474					A	143994080	G	A	143994080	3	1	46	1	0	0	0	0	1	0	0	0	4157	1086	38	1	255	1	CYP11B2	8	143994080	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4155108	143994080	2369942	71	5476											
KIAA1432	57589	broad.mit.edu	37	chr9	5720313	5720313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttttcagtagacctgcAgtcatctagaggtagctata	8	10	3	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:5720313A>G	ENST00000414202.2	+	5	763	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R|RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTAGACCTGCAGTCATCTAGA	0.388																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(571-573)cAg>cGg		KIAA1432							206	203	204					9																	5720313		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5720313A>G																												ENST00000414202.2:c.572A>G	9.37:g.5720313A>G	ENSP00000416696:p.Gln191Arg					KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R	p.Q191R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	5	763	+		Acute lymphoblastic leukemia(23;0.154)	191						Missense_Mutation	SNP	ENST00000414202.2	37	c.572A>G	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316285	0.60524	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T	0.70282	-0.47;-0.47;-0.47	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.55990	1.75	0.58432	D	0.999999	P;B;P	0.39665	0.682;0.103;0.634	B;B;B	0.36766	0.154;0.034;0.232	T	0.63171	-0.6697	10	0.16896	T	0.51	-13.9966	16.1502	0.81611	1.0:0.0:0.0:0.0	.	112;191;191	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	R	191;191;112;112;112	ENSP00000370943:Q112R;ENSP00000402240:Q112R;ENSP00000398823:Q112R	ENSP00000251879:Q191R	Q	+	2	0	KIAA1432	5710313	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.057000	0.89457	2.203000	0.70933	0.460000	0.39030	CAG		0.388	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			166	500	0	0	0	1	0	166	500					G	5720313	A	G	5720313	3	3	46	1	0	0	0	0	1	0	0	0	8263	188	7	4	349	4	KIAA1432	9	5720313	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08		5720313	135493118	72	5477											
CDKN2A	1029	broad.mit.edu	37	chr9	21971143	21971152	+	Frame_Shift_Del	DEL	CAGTTGGGCT	CAGTTGGGCT	-													tgagagtggcggggtcggcgCagttgggctccgcgccgtgg					rs559848002|rs372670098		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:21971143_21971152delCAGTTGGGCT	ENST00000304494.5	-	2	476_485	c.206_215delAGCCCAACTG	c.(205-216)gagcccaactgcfs	p.EPNC69fs	CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG	0.719		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(13)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)	haematopoietic_and_lymphoid_tissue(286)|skin(178)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(61)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(37)|pancreas(34)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD044135|CM023691|CM040398|CM065061|CM940228|CM980328|CM983987	CDKN2A|p14arf	D|M		c.(247-258)ggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971143_21971152delCAGTTGGGCT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.206_215delAGCCCAACTG	9.37:g.21971143_21971152delCAGTTGGGCT	ENSP00000307101:p.Glu69fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs	p.GAQL83fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	541_550	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	59		H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.249_258delAGCCCAACTG	CCDS6510.1																																																																																				0.719	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		22	52						22	52	---	---	---	---	-	21971152	CAGTTGGGCT	-	21971143	7	5	46	1	0	1	0	1	0	0	0	0	3170	710	25	0	263	0	CDKN2A	9	21971143	Frame_Shift_Del	DEL	CAGTTGGGCT	TCGA-FB-A78T-01A-12D-A32N-08	16250830	21971143	119242288	73	5478											
TMEM8B	51754	broad.mit.edu	37	chr9	35853151	35853151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctaggtgctgtatttgcTgggagctatgctgctgtcca	12	9	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:35853151T>A	ENST00000377991.4	+	13	1995	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	TMEM8B_ENST00000377988.2_Missense_Mutation_p.L327Q	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	327					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTGTATTTGCTGGGAGCTATG	0.582																																						ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(979-981)cTg>cAg		transmembrane protein 8B							157	159	159					9																	35853151		2018	4181	6199	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853151T>A	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.980T>A	9.37:g.35853151T>A	ENSP00000367230:p.Leu327Gln					TMEM8B_ENST00000377991.4_Missense_Mutation_p.L327Q	p.L327Q	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			12	2268	+			327					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.980T>A	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237817	0.79800	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.48836	0.8;0.8	4.98	4.98	0.66077	.	.	.	.	.	T	0.71091	0.3299	M	0.84683	2.71	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	T	0.76642	-0.2884	9	0.72032	D	0.01	.	13.8098	0.63256	0.0:0.0:0.0:1.0	.	327	A6NDV4	TMM8B_HUMAN	Q	327	ENSP00000367230:L327Q;ENSP00000367227:L327Q	ENSP00000367227:L327Q	L	+	2	0	TMEM8B	35843151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.002000	0.58637	0.454000	0.30748	CTG		0.582	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		7	984	0	0	0	1	0	7	984					A	35853151	T	A	35853151	3	1	46	1	0	0	0	0	1	0	0	0	16267	1580	55	5	1204	5	TMEM8B	9	35853151	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	13882008	35853151	105360280	74	5479											
C9orf79	286234	broad.mit.edu	37	chr9	90499515	90499517	+	In_Frame_Del	DEL	TCC	TCC	-													ctgatttccagcttgcagaaTcctcctgagggagctggagg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:90499515_90499517delTCC	ENST00000325643.5	+	3	440_442	c.374_376delTCC	c.(373-378)atcctc>atc	p.L127del		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	127					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTTGCAGAATCCTCCTGAGGGA	0.576																																						ENST00000325643.5																			0											c.(373-378)atc>a		SPATA31 subfamily E, member 1																																				SO:0001651	inframe_deletion	286234							g.chr9:90499515_90499517delTCC	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.374_376delTCC	9.37:g.90499518_90499520delTCC	ENSP00000322640:p.Leu127del						p.IL125del	NM_178828.4	NP_849150.3					3	440_442	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	In_Frame_Del	DEL	ENST00000325643.5	37	c.374_376delTCC	CCDS6676.1																																																																																				0.576	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		60	255						60	255	---	---	---	---	-	90499517	TCC	-	90499515	7	5	46	1	0	1	0	1	0	0	0	0	2504	1435	50	0	384	0	C9orf79	9	90499515	In_Frame_Del	DEL	TCC	TCGA-FB-A78T-01A-12D-A32N-08	54646364	90499515	50713916	75	5480											
FAM75C1	441452	broad.mit.edu	37	chr9	90535640	90535640	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacgtgaggatttggCggcttctgtcccagccatct	11	13	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:90535640C>T	ENST00000602681.1	+	0	1544							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGATTTGGCGGCTTCTGTC	0.562																																						ENST00000602681.1																			0																				57	51	53					9																	90535640		692	1591	2283			0							g.chr9:90535640C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535640C>T														0	1544	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.562	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		6	674	0	0	0	1	0	6	674					T	90535640	C	T	90535640	1	4	46	0	1	0	0	0	0	0	0	0	5648	768	27	1		1	FAM75C1	9	90535640	RNA	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	36125	90535640	50677791	76	5481											
ZNF483	158399	broad.mit.edu	37	chr9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaccttgttctgaaccGcaaggagaaaaccgccggag	11	11	2	3	rs201645923		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423																																						ENST00000309235.5																			1	Substitution - Missense(1)	p.R349H(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1045-1047)cGc>cAc		zinc finger protein 483							80	91	87					9																	114304261		2203	4299	6502	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304261G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His					ZNF483_ENST00000358151.4_Intron	p.R349H	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1204	+			349					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1046G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		6	541	0	0	0	1	0	6	541					A	114304261	G	A	114304261	3	1	46	1	0	0	0	0	1	0	0	0	17989	1087	38	1	1064	1	ZNF483	9	114304261	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	23768621	114304261	26909170	77	5482											
FAM129B	64855	broad.mit.edu	37	chr9	130271305	130271305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacacggacgtgctggacaCatcaaatcgctgctgcagcc	11	13	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:130271305C>A	ENST00000373312.3	-	10	1480	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	423					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTGGACACATCAAATCGC	0.622																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1267-1269)Gtg>Ttg		family with sequence similarity 129, member B							110	80	90					9																	130271305		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130271305C>A	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.1267G>T	9.37:g.130271305C>A	ENSP00000362409:p.Val423Leu					FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L|FAM129B_ENST00000468379.1_Intron	p.V423L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			10	1480	-			423					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1267G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695162	0.68386	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26067	1.76;1.76	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.61218	1.895	0.53688	D	0.999974	D;P;P	0.57899	0.981;0.763;0.763	P;P;P	0.58780	0.845;0.453;0.453	T	0.09707	-1.0662	10	0.25106	T	0.35	-28.7207	16.6857	0.85304	0.0:1.0:0.0:0.0	.	73;410;423	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	L	410;73;423	ENSP00000362411:V410L;ENSP00000362409:V423L	ENSP00000362409:V423L	V	-	1	0	FAM129B	129311126	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	4.604000	0.61112	2.532000	0.85374	0.561000	0.74099	GTG		0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		10	222	1	0	1.04858e-14	1	1.14124e-14	10	222					A	130271305	C	A	130271305	3	1	46	1	0	0	0	0	1	0	0	0	5458	478	17	3	993	3	FAM129B	9	130271305	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	15967044	130271305	10942126	78	5483											
EDF1	8721	broad.mit.edu	37	chr9	139756786	139756786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccaatgtcctttccccGgagcttgaggcctgaaatga	9	12	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139756786G>A	ENST00000224073.1	-	5	424	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	133	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTTTCCCCGGAGCTTGAGG	0.597																																						ENST00000224073.1																			0				lung(1)	1						c.(397-399)Cgg>Tgg		endothelial differentiation-related factor 1							202	178	186					9																	139756786		2203	4300	6503	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139756786G>A	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.397C>T	9.37:g.139756786G>A	ENSP00000224073:p.Arg133Trp					EDF1_ENST00000371649.1_3'UTR	p.R133W	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	424	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	133			HTH cro/C1-type.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.397C>T	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836360	0.71373	.	.	ENSG00000107223	ENST00000224073	.	.	.	5.05	3.16	0.36331	Helix-turn-helix type 3 (2);	0.055037	0.85682	D	0.000000	T	0.77246	0.4102	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76982	-0.2757	9	0.87932	D	0	.	8.8018	0.34914	0.0792:0.0:0.771:0.1497	.	133	O60869	EDF1_HUMAN	W	133	.	ENSP00000224073:R133W	R	-	1	2	EDF1	138876607	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.545000	0.67237	0.513000	0.28278	-0.136000	0.14681	CGG		0.597	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			6	722	0	0	0	1	0	6	722					A	139756786	G	A	139756786	3	1	46	1	0	0	0	0	1	0	0	0	4930	1115	39	1	53	1	EDF1	9	139756786	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9485481	139756786	1456645	79	5484											
ENTPD2	954	broad.mit.edu	37	chr9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagccccatcgaagtccGcaaaaagtccacagtgtaga	11	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(1066-1068)Cgg>Tgg		ectonucleoside triphosphate diphosphohydrolase 2							50	57	54					9																	139944405		2202	4299	6501	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944405G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1066C>T	9.37:g.139944405G>A	ENSP00000347213:p.Arg356Trp		OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1113	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	356					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.1066C>T	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858624	0.32791	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11712	2.75;2.75	4.33	0.364	0.16124	.	0.673516	0.15484	N	0.259909	T	0.24624	0.0597	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65773	0.897;0.938	T	0.06552	-1.0820	10	0.72032	D	0.01	-34.9035	12.0873	0.53704	0.0:0.0:0.5375:0.4625	.	356;356	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	W	356	ENSP00000347213:R356W;ENSP00000312494:R356W	ENSP00000312494:R356W	R	-	1	2	ENTPD2	139064226	0.000000	0.05858	0.254000	0.24359	0.142000	0.21351	0.253000	0.18296	0.188000	0.20168	-0.397000	0.06425	CGG		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		5	369	0	0	0	1	0	5	369					A	139944405	G	A	139944405	3	1	46	1	0	0	0	0	1	0	0	0	5157	1086	38	1	433	1	ENTPD2	9	139944405	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	187619	139944405	1269026	80	5485											
MRC1	4360	broad.mit.edu	37	chr10	17949700	17949700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctacaaaggatatatttGtaaaagaccaaaaagtaagt	6	5	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:17949700G>C	ENST00000331429.2	+	28	4167	c.4064G>C	c.(4063-4065)tGt>tCt	p.C1355S																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATATATTTGTAAAAGACCA	0.373																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(4063-4065)tGt>tCt									168	180	176					10																	17949700		2183	4286	6469	SO:0001583	missense	0							g.chr10:17949700G>C																												ENST00000331429.2:c.4064G>C	10.37:g.17949700G>C	ENSP00000332124:p.Cys1355Ser						p.C1355S							28	4167	+									Missense_Mutation	SNP	ENST00000331429.2	37	c.4064G>C		.	.	.	.	.	.	.	.	.	.	.	18.38	3.612124	0.66672	.	.	ENSG00000183748	ENST00000331429	D	0.97688	-4.49	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000012	D	0.98654	0.9549	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99797	1.1034	8	0.87932	D	0	-10.5846	16.4284	0.83832	0.0:0.0:1.0:0.0	.	1355	B9EJA8	.	S	1355	ENSP00000332124:C1355S	ENSP00000332124:C1355S	C	+	2	0	AL928580.1	17989706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGT		0.373	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			23	610	0	0	0	1	0	23	610					C	17949700	G	C	17949700	3	2	46	1	0	0	0	0	1	0	0	0	9797	1377	48	5	4174	5	MRC1	10	17949700	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		17949700	117585047	81	5486											
AGAP11	119385	broad.mit.edu	37	chr10	88767456	88767456	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttgatgaacagttatactCatttgcggtaagtggcactt	9	7	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:88767456C>A	ENST00000444431.1	+	0	2704				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAGTTATACTCATTTGCGGTA	0.318																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							83	93	90					10																	88767456		2203	4291	6494			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767456C>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767456C>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2704	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.318	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		5	520	1	0	1	1	1	5	520					A	88767456	C	A	88767456	1	1	46	0	1	0	0	0	0	0	0	0	367	838	29	3		3	AGAP11	10	88767456	RNA	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	70817756	88767456	46767291	82	5487											
TNKS2	80351	broad.mit.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																						ENST00000371627.4																			1	Deletion - Frameshift(1)	p.N622fs*29(1)	large_intestine(1)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1855-1857)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2																																				SO:0001589	frameshift_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601945_93601946insA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs						p.K619fs	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			16	2235_2236	+		Colorectal(252;0.162)	619					B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	ENST00000371627.4	37	c.1856_1857insA	CCDS7417.1																																																																																				0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		7	217						7	217	---	---	---	---	A	93601946	-	A	93601945	7	5	46	1	0	1	1	0	0	0	0	0	16373	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	4834489	93601945	41932802	83	5488											
ATRNL1	26033	broad.mit.edu	37	chr10	117061456	117061456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaatggcatggagtgtatGtggtgcagcagtacgaaacg	15	6	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:117061456G>C	ENST00000355044.3	+	17	2847	c.2721G>C	c.(2719-2721)atG>atC	p.M907I	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	907	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGAGTGTATGTGGTGCAGCA	0.453																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2719-2721)atG>atC		attractin-like 1							283	203	230					10																	117061456		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061456G>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2721G>C	10.37:g.117061456G>C	ENSP00000347152:p.Met907Ile					ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	p.M907I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2847	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	907			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2721G>C	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789583|3.789583	0.70337|0.70337	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.21932|.	2.34;1.98|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	P;D|.	0.54964|.	0.936;0.969|.	P;D|.	0.70227|.	0.885;0.968|.	T|T	0.63413|0.63413	-0.6643|-0.6643	10|5	0.30854|.	T|.	0.27|.	-11.4902|-11.4902	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;907|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	I|L	907;4|37	ENSP00000347152:M907I;ENSP00000409624:M4I|.	ENSP00000347152:M907I|.	M|V	+|+	3|1	0|0	ATRNL1|ATRNL1	117051446|117051446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	ATG|GTG		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		67	188	0	0	0	1	0	67	188					C	117061456	G	C	117061456	3	2	46	1	0	0	0	0	1	0	0	0	1208	1377	48	5	2787	5	ATRNL1	10	117061456	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	23459511	117061456	18473291	84	5489											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	8	15	2	0	rs147065829		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1069-1071)cGt>cAt		leucine rich repeat containing 27		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	151	146		975,975,1070,975	-8.8	0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368614.3_Silent_p.P325P	p.R357H			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1265	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1070G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		7	859	0	0	0	1	0	7	859					A	134165159	G	A	134165159	2	1	46	1	0	0	0	0	0	0	0	1	9019	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	17103703	134165159	1369588	85	5490											
PSMA1	5682	broad.mit.edu	37	chr11	14536026	14536026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatccaaacactcctgaCgcataaaattactaaaaaag	5	9	0	1	rs371834255		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:14536026C>T	ENST00000396394.2	-	5	662	c.266G>A	c.(265-267)cGt>cAt	p.R89H	PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000530457.1_Missense_Mutation_p.R64H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACACTCCTGACGCATAAAATT	0.308																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(190-192)cGt>cAt		proteasome (prosome, macropain) subunit, alpha type, 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	38	37	37		266,266,284	5.7	1	11		37	0,8588		0,0,4294	no	missense,missense,missense	PSMA1	NM_001143937.1,NM_002786.3,NM_148976.2	29,29,29	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	89/131,89/264,95/270	14536026	1,12987	2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14536026C>T	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"Proteasome (prosome, macropain) subunits"	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.266G>A	11.37:g.14536026C>T	ENSP00000379676:p.Arg89His					PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H	p.R64H			P25786	PSA1_HUMAN			5	721	-			89					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.191G>A	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096602	0.94197	2.27E-4	0.0	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	H	0.94542	3.55	0.80722	D	1	B;P;P	0.41710	0.389;0.76;0.543	B;B;B	0.34931	0.047;0.192;0.18	T	0.66380	-0.5938	10	0.66056	D	0.02	-2.5165	19.813	0.96554	0.0:1.0:0.0:0.0	.	89;95;89	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	H	89;89;89;64;95	ENSP00000392242:R89H;ENSP00000379676:R89H;ENSP00000379675:R89H;ENSP00000441166:R64H;ENSP00000414359:R95H	ENSP00000379675:R89H	R	-	2	0	PSMA1	14492602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.018000	0.76406	2.683000	0.91414	0.591000	0.81541	CGT		0.308	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		12	111	0	0	0	1	0	12	111					T	14536026	C	T	14536026	3	4	46	1	0	0	0	0	1	0	0	0	12713	536	19	1	599	1	PSMA1	11	14536026	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		14536026	120470490	86	5491											
KCNJ11	3767	broad.mit.edu	37	chr11	17408690	17408690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcagctacaatggGcacaaagcgctggccccaca	9	16	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:17408690G>A	ENST00000339994.4	-	1	1516	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	317					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTACAATGGGCACAAAGCGC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(949-951)Ccc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 11							151	131	138					11																	17408690		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408690G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.949C>T	11.37:g.17408690G>A	ENSP00000345708:p.Pro317Ser		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	p.P317S	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1516	-			230					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.949C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227133	0.39399	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.91996	-2.95;-2.95	5.43	5.43	0.79202	.	0.055715	0.64402	D	0.000001	D	0.89283	0.6671	L	0.47078	1.49	0.58432	D	0.999999	P	0.34977	0.478	B	0.30646	0.118	D	0.87963	0.2731	10	0.38643	T	0.18	.	19.2428	0.93891	0.0:0.0:1.0:0.0	.	317	B2RC52	.	S	317;230	ENSP00000345708:P317S;ENSP00000434755:P230S	ENSP00000345708:P317S	P	-	1	0	KCNJ11	17365266	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	8.062000	0.89475	2.548000	0.85928	0.561000	0.74099	CCC		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		5	496	0	0	0	1	0	5	496					A	17408690	G	A	17408690	3	1	46	1	0	0	0	0	1	0	0	0	8075	1203	42	2	227	2	KCNJ11	11	17408690	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2872664	17408690	117597826	87	5492											
NR1H3	10062	broad.mit.edu	37	chr11	47281348	47281348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggagctcagactctgCggtggagctgtggaagccag	15	9	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:47281348C>T	ENST00000467728.1	+	2	1288	c.50C>T	c.(49-51)gCg>gTg	p.A17V	NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000527949.1_5'Flank			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	17					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCAGACTCTGCGGTGGAGCTG	0.632											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(49-51)gCg>gTg		nuclear receptor subfamily 1, group H, member 3							37	37	37					11																	47281348		2201	4297	6498	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281348C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.50C>T	11.37:g.47281348C>T	ENSP00000420656:p.Ala17Val		OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000481889.2_5'UTR	p.A17V			Q13133	NR1H3_HUMAN			2	1288	+			17					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.50C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090832	0.08632	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.66	1.22	0.21188	.	0.815641	0.10624	N	0.652953	T	0.25005	0.0607	N	0.14661	0.345	0.28499	N	0.914104	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.21759	-1.0236	10	0.30078	T	0.28	.	9.8669	0.41150	0.0:0.8063:0.0:0.1937	.	23;17;17	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	V	17	ENSP00000403798:A17V;ENSP00000385801:A17V;ENSP00000391005:A17V;ENSP00000413095:A17V;ENSP00000415591:A17V;ENSP00000387946:A17V;ENSP00000396132:A17V;ENSP00000403696:A17V;ENSP00000420656:A17V;ENSP00000384745:A17V	ENSP00000384745:A17V	A	+	2	0	NR1H3	47237924	0.723000	0.28027	0.131000	0.22000	0.025000	0.11179	1.163000	0.31798	0.341000	0.23771	0.462000	0.41574	GCG		0.632	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			5	333	0	0	0	1	0	5	333					T	47281348	C	T	47281348	3	4	46	1	0	0	0	0	1	0	0	0	10660	768	27	1	56	1	NR1H3	11	47281348	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29872658	47281348	87725168	88	5493											
SPRYD5	84767	broad.mit.edu	37	chr11	55653623	55653623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcctaaaaaaaatgcagTctttatgggaaaaagcttgt	8	6	1	0	rs200328622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:55653623T>C	ENST00000449290.2	+	3	528	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	146						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AAAAATGCAGTCTTTATGGGA	0.418													N|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.001	False		,,,				2504	0.0					ENST00000449290.2																			0											c.(436-438)Tct>Cct		tripartite motif-containing 51		T	PRO/SER	2,4400		0,2,2199	55	58	57		436		0	11		57	3,8589		0,3,4293	no	missense	SPRYD5	NM_032681.3	74	0,5,6492	CC,CT,TT		0.0349,0.0454,0.0385	benign	146/453	55653623	5,12989	2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653623T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.436T>C	11.37:g.55653623T>C	ENSP00000395086:p.Ser146Pro					TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P	p.S146P	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			3	528	+			146					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.436T>C		.	.	.	.	.	.	.	.	.	.	.	1.685	-0.505613	0.04261	4.54E-4	3.49E-4	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.57595	0.39;0.59	.	.	.	.	.	.	.	.	T	0.59418	0.2192	M	0.85197	2.74	0.09310	N	1	P	0.40398	0.716	P	0.49192	0.602	T	0.53143	-0.8480	7	0.35671	T	0.21	.	.	.	.	.	146	Q9BSJ1	SPRY5_HUMAN	P	146;3	ENSP00000395086:S146P;ENSP00000244891:S3P	ENSP00000244891:S3P	S	+	1	0	SPRYD5	55410199	0.001000	0.12720	0.028000	0.17463	0.144000	0.21451	-0.552000	0.06020	-0.745000	0.04772	0.128000	0.15822	TCT		0.418	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		10	206	0	0	0	1	0	10	206					C	55653623	T	C	55653623	3	2	46	1	0	0	0	0	1	0	0	0	15163	1667	58	4	442	4	SPRYD5	11	55653623	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	8372275	55653623	79352893	89	5494											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076139	57076139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctccacattctggggcGccaagtcctgggtccagtcc	12	14	1	1	rs143761660		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57076139G>A	ENST00000532437.1	-	5	4357	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1349	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTCTGGGGCGCCAAGTCCTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16253	0.0		0.001	False		,,,				2504	0.0					ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4045-4047)gCg>gTg		tankyrase 1 binding protein 1, 182kDa		G	VAL/ALA	0,4402		0,0,2201	89	98	95		4046	2.1	0	11	dbSNP_134	95	5,8587	3.7+/-12.6	0,5,4291	yes	missense	TNKS1BP1	NM_033396.2	64	0,5,6492	AA,AG,GG		0.0582,0.0,0.0385	benign	1349/1730	57076139	5,12989	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076139G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4046C>T	11.37:g.57076139G>A	ENSP00000437271:p.Ala1349Val					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V	p.A1349V			Q9C0C2	TB182_HUMAN			5	4357	-		all_epithelial(135;0.21)	1349			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4046C>T	CCDS7951.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.089	0.571853	0.13623	0.0	5.82E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30981	1.51;1.51	5.08	2.14	0.27477	.	0.362114	0.23530	N	0.047188	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.30193	0.272	B	0.17979	0.02	T	0.16335	-1.0406	10	0.37606	T	0.19	-5.0064	7.4646	0.27314	0.0:0.5833:0.3269:0.0898	.	1349	Q9C0C2	TB182_HUMAN	V	1349	ENSP00000350990:A1349V;ENSP00000437271:A1349V	ENSP00000350990:A1349V	A	-	2	0	TNKS1BP1	56832715	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.214000	0.17541	0.174000	0.19809	-0.539000	0.04255	GCG		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		6	860	0	0	0	1	0	6	860					A	57076139	G	A	57076139	3	1	46	1	0	0	0	0	1	0	0	0	16372	1087	38	1	1167	1	TNKS1BP1	11	57076139	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1422516	57076139	77930377	90	5495											
ZDHHC5	25921	broad.mit.edu	37	chr11	57456082	57456082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatggtgtgccacctgccGcttttaccgtccccctcgat	9	15	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57456082G>A	ENST00000287169.3	+	4	1691	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	110					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCACCTGCCGCTTTTACCGT	0.522																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(328-330)cGc>cAc		zinc finger, DHHC-type containing 5							113	93	100					11																	57456082		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57456082G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.329G>A	11.37:g.57456082G>A	ENSP00000287169:p.Arg110His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	p.R110H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			4	1691	+			110					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.329G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389594	0.25118	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842;ENST00000529447	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.02	4.11	0.48088	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	N	0.01809	-0.71	0.80722	D	1	B	0.26445	0.149	B	0.27076	0.076	T	0.79557	-0.1754	10	0.13470	T	0.59	-5.0695	9.536	0.39222	0.1612:0.0:0.8388:0.0	.	110	Q9C0B5	ZDHC5_HUMAN	H	57;110;8;8;36	ENSP00000432202:R57H;ENSP00000287169:R110H;ENSP00000431209:R8H;ENSP00000435593:R8H;ENSP00000435722:R36H	ENSP00000287169:R110H	R	+	2	0	ZDHHC5	57212658	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	4.362000	0.59467	1.355000	0.45865	0.561000	0.74099	CGC		0.522	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		5	303	0	0	0	1	0	5	303					A	57456082	G	A	57456082	3	1	46	1	0	0	0	0	1	0	0	0	17671	1087	38	1	339	1	ZDHHC5	11	57456082	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	379943	57456082	77550434	91	5496											
MS4A1	931	broad.mit.edu	37	chr11	60235931	60235931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatagaaaatgacaGctctccttaagtgatttctt	5	10	3	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:60235931G>T	ENST00000534668.1	+	7	1173	c.884G>T	c.(883-885)aGc>aTc	p.S295I	MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I|MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I|MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	295					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GAAAATGACAGCTCTCCTTAA	0.373																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(883-885)aGc>aTc		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						106	102	103					11																	60235931		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235931G>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.884G>T	11.37:g.60235931G>T	ENSP00000433277:p.Ser295Ile					MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I|MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I|MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I	p.S295I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			7	1173	+			295					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.884G>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760565	0.31137	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.24908	2.39;1.83;2.39;2.39	4.53	-0.0963	0.13637	.	2.922300	0.01270	N	0.009432	T	0.17534	0.0421	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.19811	-1.0294	10	0.42905	T	0.14	-16.9912	5.1731	0.15120	0.1106:0.0:0.3805:0.509	.	128;282;295	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	295;282;295;128;295	ENSP00000314620:S295I;ENSP00000433519:S282I;ENSP00000433277:S295I;ENSP00000374589:S295I	ENSP00000314620:S295I	S	+	2	0	MS4A1	59992507	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	0.059000	0.14322	-0.099000	0.12263	-0.182000	0.12963	AGC		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			5	186	1	0	1	1	1	5	186					T	60235931	G	T	60235931	3	4	46	1	0	0	0	0	1	0	0	0	9895	971	34	3	906	3	MS4A1	11	60235931	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2779849	60235931	74770585	92	5497											
MEN1	4221	broad.mit.edu	37	chr11	64577300	64577300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgcctcggatctgggcGgtgaagcgggcatagagggc	19	10	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:64577300G>A	ENST00000337652.1	-	2	785	c.282C>T	c.(280-282)acC>acT	p.T94T	MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	94			Missing (in MEN1). {ECO:0000269|PubMed:17555499}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A95fs*24(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGATCTGGGCGGTGAAGCGGG	0.647			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Deletion - Frameshift(1)	p.A95fs*24(1)	pancreas(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(280-282)acC>acT		multiple endocrine neoplasia I							33	38	36					11																	64577300		2201	4297	6498	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577300G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.282C>T	11.37:g.64577300G>A						MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T	p.T94T	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			2	785	-			94		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.282C>T	CCDS8083.1																																																																																				0.647	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			4	154	0	0	0	1	0	4	154					A	64577300	G	A	64577300	2	1	46	1	0	0	0	0	0	0	0	1	9513	1103	39	1		1	MEN1	11	64577300	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4341369	64577300	70429216	93	5498											
NPAS4	266743	broad.mit.edu	37	chr11	66188745	66188745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgccgctggccgaagCggacaaggtccggctgtcct	15	14	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:66188745C>T	ENST00000311034.2	+	1	271	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	32	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCCGAAGCGGACAAGGTC	0.647																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(94-96)gCg>gTg		neuronal PAS domain protein 4							66	53	57					11																	66188745		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66188745C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.95C>T	11.37:g.66188745C>T	ENSP00000311196:p.Ala32Val						p.A32V	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			1	271	+			32			Helix-loop-helix motif.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.95C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313768	0.95655	.	.	ENSG00000174576	ENST00000311034	T	0.51071	0.72	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (1);	0.228511	0.31102	N	0.008255	T	0.42314	0.1197	N	0.14661	0.345	0.54753	D	0.99998	D	0.63880	0.993	P	0.53490	0.727	T	0.41016	-0.9532	10	0.62326	D	0.03	-4.3398	11.8591	0.52454	0.0:0.8243:0.1757:0.0	.	32	Q8IUM7	NPAS4_HUMAN	V	32	ENSP00000311196:A32V	ENSP00000311196:A32V	A	+	2	0	NPAS4	65945321	0.998000	0.40836	0.999000	0.59377	0.948000	0.59901	1.746000	0.38288	2.691000	0.91804	0.563000	0.77884	GCG		0.647	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		5	170	0	0	0	1	0	5	170					T	66188745	C	T	66188745	3	4	46	1	0	0	0	0	1	0	0	0	10607	768	27	1	97	1	NPAS4	11	66188745	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1611445	66188745	68817771	94	5499											
ARAP1	116985	broad.mit.edu	37	chr11	72406856	72406856	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagcgtgggcccaaaCacaattgccaggttgtgcac	13	10	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:72406856C>G	ENST00000393609.3	-	24	3529	c.3327G>C	c.(3325-3327)gtG>gtC	p.V1109V	ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000359373.5_Silent_p.V1109V|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000426523.1_Silent_p.V864V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1109	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGCCCAAACACAATTGCCA	0.552																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3325-3327)gtG>gtC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							124	91	102					11																	72406856		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406856C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3327G>C	11.37:g.72406856C>G						ARAP1_ENST00000393609.3_Silent_p.V1109V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000455638.2_Silent_p.V1109V	p.V1109V			Q96P48	ARAP1_HUMAN			24	4178	-			1109			Rho-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.3327G>C	CCDS41687.1																																																																																				0.552	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		9	98	0	0	0	1	0	9	98					G	72406856	C	G	72406856	2	3	46	1	0	0	0	0	0	0	0	1	838	465	17	5		5	ARAP1	11	72406856	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	6218111	72406856	62599660	95	5500											
CASP1	834	broad.mit.edu	37	chr11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgagagtcccagcgtcCctgccaggtaactgtcttct	10	14	2	1	rs2509649		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCCAGCGTCCCTGCCAGGTA	0.468																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			2	Substitution - Missense(2)	p.G85E(2)	NS(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(253-255)gGg>gAg		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						185	166	172					11																	104904955		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104904955C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.254G>A	11.37:g.104904955C>T	ENSP00000433138:p.Gly85Glu					CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron	p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	289	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	85			CARD.		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.254G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG		0.468	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		6	450	0	0	0	1	0	6	450					T	104904955	C	T	104904955	3	4	46	1	0	0	0	0	1	0	0	0	2675	623	22	2	992	2	CASP1	11	104904955	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32498099	104904955	30101561	96	5501											
TEX12	56158	broad.mit.edu	37	chr11	112040055	112040055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccaagagaattggagGtaagctgtatgcctatggag	15	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Splice_Site|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site|AP002884.3_ENST00000532612.1_5'Flank	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12						meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373																																						ENST00000280358.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e2+1		testis expressed 12							205	221	216					11																	112040055		2201	4297	6498	SO:0001630	splice_region_variant	56158							g.chr11:112040055G>A	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"testis expressed sequence 12"			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.63+1G>A	11.37:g.112040055G>A						SDHD_ENST00000532699.1_Intron|RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Splice_Site		NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	195	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						A6NDL9|B0YIX3	Splice_Site	SNP	ENST00000280358.4	37		CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		0.373	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		Intron	5	333	0	0	0	1	0	5	333					A	112040055	G	A	112040055	5	1	46	1	0	0	0	0	0	0	1	0	15827	1275	44	2	66	2	TEX12	11	112040055	Splice_Site	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7135100	112040055	22966461	97	5502											
CBL	867	broad.mit.edu	37	chr11	119145571	119145571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctcaggaattggaaCagccttgctgtaactcatcc	8	11	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:119145571C>A	ENST00000264033.4	+	5	1153	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	259	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAATTGGAACAGCCTTGCTG	0.448			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(775-777)aaC>aaA		Cbl proto-oncogene, E3 ubiquitin protein ligase							185	164	171					11																	119145571		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119145571C>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.777C>A	11.37:g.119145571C>A	ENSP00000264033:p.Asn259Lys						p.N259K	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	5	1153	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	259			Cbl-PTB.|SH2-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.777C>A	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171641	0.57584	.	.	ENSG00000110395	ENST00000264033	T	0.77229	-1.08	5.78	2.49	0.30216	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	L	0.27053	0.805	0.58432	D	0.999999	P	0.48089	0.905	P	0.59171	0.853	T	0.73248	-0.4043	10	0.44086	T	0.13	-32.4516	9.5841	0.39506	0.0:0.6369:0.0:0.3631	.	259	P22681	CBL_HUMAN	K	259	ENSP00000264033:N259K	ENSP00000264033:N259K	N	+	3	2	CBL	118650781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.876000	0.28092	0.812000	0.34326	0.655000	0.94253	AAC		0.448	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		6	388	1	0	4.096e-09	1	4.39662e-09	6	388					A	119145571	C	A	119145571	3	1	46	1	0	0	0	0	1	0	0	0	2707	477	17	3	795	3	CBL	11	119145571	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	7105516	119145571	15860945	98	5503											
ATN1	1822	broad.mit.edu	37	chr12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-													caacacatcaccatcaccacCagcaacagcaacagcagcag					rs370414886|rs201442555		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7045880_7045885delCAGCAA	ENST00000356654.4	+	5	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)cagcaadel	p.QQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626														311	0.0621006	0.149	0.0937	5008	,	,		16080	0.0397		0.002	False		,,,				2504	0.0072					ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1450-1455)del		atrophin 1																																				SO:0001651	inframe_deletion	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045880_7045885delCAGCAA	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1450_1455delCAGCAA	12.37:g.7045886_7045891delCAGCAA	ENSP00000349076:p.Gln500_Gln501del					ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1687_1692	+			500			Poly-Gln.		Q99495|Q99621|Q9UEK7	In_Frame_Del	DEL	ENST00000356654.4	37	c.1450_1455delCAGCAA	CCDS31734.1																																																																																				0.626	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		7	1411						7	1411	---	---	---	---	-	7045885	CAGCAA	-	7045880	7	5	46	1	0	1	0	1	0	0	0	0	1112	595	21	0	1464	0	ATN1	12	7045880	In_Frame_Del	DEL	CAGCAA	TCGA-FB-A78T-01A-12D-A32N-08		7045880	126806015	99	5504											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	12	89						12	89	---	---	---	---	C	7080213	-	C	7080212	8	5	46	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	34332	7080212	126771683	100	5505											
NANOG	79923	broad.mit.edu	37	chr12	7945647	7945647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcagagaagagtgtcGcaaaaaaggaagacaaggtc	12	7	1	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7945647G>A	ENST00000229307.4	+	2	472	c.253G>A	c.(253-255)Gca>Aca	p.A85T	NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	85					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAAGAGTGTCGCAAAAAAGGA	0.478																																						ENST00000229307.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(253-255)Gca>Aca		Nanog homeobox							69	61	64					12																	7945647		2202	4292	6494	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945647G>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.253G>A	12.37:g.7945647G>A	ENSP00000229307:p.Ala85Thr					NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	2	472	+			85					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.253G>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.311903	0.01342	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91237	-2.81;-2.81;-2.78	4.1	0.704	0.18121	Homeodomain-related (1);	3.012810	0.00789	N	0.001330	T	0.81230	0.4779	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68534	-0.5383	10	0.13108	T	0.6	1.3277	8.8453	0.35166	0.3408:0.0:0.6592:0.0	.	85	Q9H9S0	NANOG_HUMAN	T	61;85;85	ENSP00000444434:A61T;ENSP00000229307:A85T;ENSP00000435288:A85T	ENSP00000229307:A85T	A	+	1	0	NANOG	7836914	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.200000	0.17257	-0.023000	0.13963	-1.749000	0.00680	GCA		0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		6	415	0	0	0	1	0	6	415					A	7945647	G	A	7945647	3	1	46	1	0	0	0	0	1	0	0	0	10191	1087	38	1	259	1	NANOG	12	7945647	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	865435	7945647	125906248	101	5506											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	811						8	811	---	---	---	---	-	55615116	CTT	-	55615114	7	5	46	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-FB-A78T-01A-12D-A32N-08	47669467	55615114	78236781	102	5507											
RBMS2	5939	broad.mit.edu	37	chr12	56956368	56956368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaagctgtgtcagccGtaagttggagtacatgtgcg	13	8	2	0	rs140037879		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:56956368G>A	ENST00000262031.5	+	2	328		c.e2+1		RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000549945.1_Splice_Site|RBMS2_ENST00000542360.1_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGTGTCAGCCGTAAGTTGGAG	0.488																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.e2+1		RNA binding motif, single stranded interacting protein 2		G		0,4406		0,0,2203	147	131	136			4.7	1	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	splice-5	RBMS2	NM_002898.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			56956368	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56956368G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.233+1G>A	12.37:g.56956368G>A						RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_Splice_Site		NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			2	328	+									Splice_Site	SNP	ENST00000262031.5	37		CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402870	0.83230	0.0	1.16E-4	ENSG00000076067	ENST00000262031;ENST00000552247	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8474	0.85984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55242635	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.989000	0.93506	2.589000	0.87451	0.555000	0.69702	.		0.488	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898	Intron	5	474	0	0	0	1	0	5	474					A	56956368	G	A	56956368	5	1	46	1	0	0	0	0	0	0	1	0	13199	1159	40	1	240	1	RBMS2	12	56956368	Splice_Site	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1341254	56956368	76895527	103	5508											
GLI1	2735	broad.mit.edu	37	chr12	57859598	57859598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggggatgctggatgggCgggaggacctcgagagagag	21	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:57859598C>T	ENST00000228682.2	+	7	743	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	GLI1_ENST00000543426.1_Missense_Mutation_p.R90W|GLI1_ENST00000546141.1_Missense_Mutation_p.R177W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	218					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCTGGATGGGCGGGAGGACCT	0.552																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(652-654)Cgg>Tgg		GLI family zinc finger 1							91	91	91					12																	57859598		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57859598C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.652C>T	12.37:g.57859598C>T	ENSP00000228682:p.Arg218Trp					GLI1_ENST00000546141.1_Missense_Mutation_p.R177W|GLI1_ENST00000543426.1_Missense_Mutation_p.R90W	p.R218W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		7	743	+			218					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.652C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596133	0.66332	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.57;2.49;2.57;2.57	4.45	2.42	0.29668	.	0.000000	0.47093	D	0.000256	T	0.81597	0.4856	L	0.57536	1.79	0.53688	D	0.999972	D	0.89917	1.0	D	0.71414	0.973	D	0.83420	0.0032	10	0.87932	D	0	.	12.4989	0.55944	0.2978:0.7022:0.0:0.0	.	218	P08151	GLI1_HUMAN	W	90;90;218;177;177;90	ENSP00000436671:R90W;ENSP00000437607:R90W;ENSP00000228682:R218W;ENSP00000441006:R177W;ENSP00000434408:R177W	ENSP00000228682:R218W	R	+	1	2	GLI1	56145865	0.984000	0.35163	0.999000	0.59377	0.915000	0.54546	0.836000	0.27545	1.196000	0.43129	0.591000	0.81541	CGG		0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		22	457	0	0	0	1	0	22	457					T	57859598	C	T	57859598	3	4	46	1	0	0	0	0	1	0	0	0	6466	759	27	1	674	1	GLI1	12	57859598	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	903230	57859598	75992297	104	5509											
TRHDE	29953	broad.mit.edu	37	chr12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattatttaaccattcataAgtatggtaatgcagccagaa	8	6	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1672-1674)aAg>aCg		thyrotropin-releasing hormone degrading enzyme							36	37	37					12																	72955964		2197	4267	6464	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955964A>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1673A>C	12.37:g.72955964A>C	ENSP00000261180:p.Lys558Thr					TRHDE_ENST00000549138.1_3'UTR	p.K558T	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			8	1769	+			558					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1673A>C	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA		0.269	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	162	0	0	0	1	0	11	162					C	72955964	A	C	72955964	3	2	46	1	0	0	0	0	1	0	0	0	16532	72	3	4	1703	4	TRHDE	12	72955964	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	15096366	72955964	60895931	105	5510											
E2F7	144455	broad.mit.edu	37	chr12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-													ggatttctttctggagtaaaTtttttttgcttcgataaatc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																						ENST00000322886.7																			2	Deletion - Frameshift(2)	p.K59fs*29(2)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(175-177)aafs		E2F transcription factor 7							82	84	83					12																	77449827		2203	4300	6503	SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77449827delT	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs					E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			3	412	-			59					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	c.177delA	CCDS9016.1																																																																																				0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		7	520						7	520	---	---	---	---	-	77449827	T	-	77449827	7	5	46	1	0	1	0	1	0	0	0	0	4888	1490	52	0	2602	0	E2F7	12	77449827	Frame_Shift_Del	DEL	T	TCGA-FB-A78T-01A-12D-A32N-08	4493863	77449827	56402068	106	5511											
CCDC41	51134	broad.mit.edu	37	chr12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccatctgtgaagcccGcaatttctcttcatactgat	6	12	4	2	rs111647062	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		423					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17571	0.0		0.002	False		,,,				2504	0.0					ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1291-1293)Cgg>Tgg		coiled-coil domain containing 41		G	TRP/ARG,TRP/ARG	1,3709		0,1,1854	149	137	141		1291,1291	4.9	1	12	dbSNP_132	141	2,8212		0,2,4105	yes	missense,missense	CCDC41	NM_001042399.1,NM_016122.2	101,101	0,3,5959	AA,AG,GG		0.0243,0.027,0.0252	probably-damaging,probably-damaging	431/702,431/702	94761622	3,11921	1855	4107	5962	SO:0001583	missense	51134							g.chr12:94761622G>A																												ENST00000397809.5:c.1291C>T	12.37:g.94761622G>A	ENSP00000380911:p.Arg431Trp					CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W	p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			11	1840	-			423					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1291C>T	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		0.373	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	541	0	0	0	1	0	5	541					A	94761622	G	A	94761622	3	1	46	1	0	0	0	0	1	0	0	0	2820	1086	38	1	842	1	CCDC41	12	94761622	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	17311795	94761622	39090273	107	5512											
FAM71C	196472	broad.mit.edu	37	chr12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaccatccacaacagcGtaaaaaaacagctccacctg	4	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)Gta>Ata		family with sequence similarity 71, member C							77	77	77					12																	100042352		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042352G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.400G>A	12.37:g.100042352G>A	ENSP00000315247:p.Val134Ile					ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	p.V134I	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	822	+			134					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.400G>A	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	g	2.826	-0.243640	0.05906	.	.	ENSG00000180219	ENST00000324341	T	0.17370	2.28	3.66	-5.89	0.02282	.	3.911600	0.00754	N	0.001098	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.20605	-1.0270	9	.	.	.	4.9639	1.2332	0.01947	0.1916:0.1478:0.3679:0.2927	.	134	Q8NEG0	FA71C_HUMAN	I	134	ENSP00000315247:V134I	.	V	+	1	0	FAM71C	98566483	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.471000	0.06631	-1.222000	0.02587	-1.327000	0.01280	GTA		0.483	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		5	464	0	0	0	1	0	5	464					A	100042352	G	A	100042352	3	1	46	1	0	0	0	0	1	0	0	0	5634	1145	40	1	402	1	FAM71C	12	100042352	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5280730	100042352	33809543	108	5513											
BRAP	8315	broad.mit.edu	37	chr12	112103575	112103575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcagtcaggtccatcActgggaggctggcgccctac	14	12	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:112103575A>T	ENST00000327551.6	-	6	814	c.674T>A	c.(673-675)gTg>gAg	p.V225E	BRAP_ENST00000419234.4_Missense_Mutation_p.V255E|BRAP_ENST00000539060.1_Missense_Mutation_p.V76E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGGTCCATCACTGGGAGGCT	0.502																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(763-765)gTg>gAg		BRCA1 associated protein							116	83	94					12																	112103575		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112103575A>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.674T>A	12.37:g.112103575A>T	ENSP00000330813:p.Val225Glu					BRAP_ENST00000539060.1_Missense_Mutation_p.V76E|BRAP_ENST00000327551.6_Missense_Mutation_p.V225E	p.V255E	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			6	957	-			255					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.764T>A		.	.	.	.	.	.	.	.	.	.	A	15.64	2.892889	0.52121	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.47177	0.85;0.94;0.86	5.22	5.22	0.72569	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.68483	0.954;0.958	T	0.55153	-0.8185	10	0.07325	T	0.83	-17.4067	15.0833	0.72130	1.0:0.0:0.0:0.0	.	76;255	B4DRM1;Q7Z569	.;BRAP_HUMAN	E	255;76;225;37	ENSP00000403524:V255E;ENSP00000441659:V76E;ENSP00000330813:V225E	ENSP00000330813:V225E	V	-	2	0	BRAP	110587958	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	8.773000	0.91762	1.967000	0.57214	0.254000	0.18369	GTG		0.502	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			4	271	0	0	0	1	0	4	271					T	112103575	A	T	112103575	3	4	46	1	0	0	0	0	1	0	0	0	1501	159	6	5	1042	5	BRAP	12	112103575	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	12061223	112103575	21748320	109	5514											
P2RX7	5027	broad.mit.edu	37	chr12	121592733	121592733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagtgtctttgacaccGcagactacaccttccctttg	7	14	1	2	rs201451288		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:121592733G>A	ENST00000546057.1	+	2	414	c.271G>A	c.(271-273)Gca>Aca	p.A91T	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T|P2RX7_ENST00000535250.1_5'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	91					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGACACCGCAGACTACAC	0.557																																						ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(271-273)Gca>Aca		purinergic receptor P2X, ligand-gated ion channel, 7							253	172	199					12																	121592733		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121592733G>A	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.271G>A	12.37:g.121592733G>A	ENSP00000442349:p.Ala91Thr					P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T	p.A91T	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN			2	414	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		91					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.271G>A	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377781	0.61735	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.05649	3.41;3.41	5.49	5.49	0.81192	.	0.297398	0.28883	N	0.013825	T	0.27278	0.0669	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00653	-1.1625	10	0.87932	D	0	.	14.8617	0.70387	0.0:0.0:1.0:0.0	.	91	Q99572	P2RX7_HUMAN	T	91	ENSP00000442349:A91T;ENSP00000366367:A91T	ENSP00000261826:A91T	A	+	1	0	P2RX7	120077116	0.941000	0.31946	0.230000	0.23976	0.265000	0.26407	4.960000	0.63673	2.578000	0.87016	0.591000	0.81541	GCA		0.557	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		5	403	0	0	0	1	0	5	403					A	121592733	G	A	121592733	3	1	46	1	0	0	0	0	1	0	0	0	11387	1087	38	1	277	1	P2RX7	12	121592733	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9489158	121592733	12259162	110	5515											
UBC	7316	broad.mit.edu	37	chr12	125397298	125397298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacctctgctggtcaggaggGatgccttccttgtcttggat	12	10	3	0	rs113672171		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:125397298G>A	ENST00000536769.1	-	1	2596	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.I264I|UBC_ENST00000339647.5_Silent_p.I340I|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	340	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.I340I(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTCAGGAGGGATGCCTTCCT	0.512																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.I340I(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1018-1020)atC>atT		ubiquitin C							158	145	149					12																	125397298		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397298G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1020C>T	12.37:g.125397298G>A						UBC_ENST00000339647.5_Silent_p.I340I|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.I264I	p.I340I			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2596	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		340			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1020C>T	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	828	0	0	0	1	0	7	828					A	125397298	G	A	125397298	2	1	46	1	0	0	0	0	0	0	0	1	16896	1164	41	2		2	UBC	12	125397298	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3804565	125397298	8454597	111	5516											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	313	0	0	0	1	0	6	313					A	132547141	G	A	132547141	2	1	46	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7149843	132547141	1304754	112	5517											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	8	17	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:133353247T>C	ENST00000450791.2	-	20	4134	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000204726.3_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E			Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3949-3951)gaA>gaG		golgin A3							93	85	88					12																	133353247		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353247T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3951A>G	12.37:g.133353247T>C						GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4509	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1317			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3951A>G	CCDS9281.1																																																																																				0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	424	0	0	0	1	0	5	424					C	133353247	T	C	133353247	2	2	46	1	0	0	0	0	0	0	0	1	6583	1722	60	4		4	GOLGA3	12	133353247	Silent	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	806106	133353247	498648	113	5518											
SPATA13	221178	broad.mit.edu	37	chr13	24860488	24860488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggactggtggtggggccGcagtgaagataaggaagcct	17	7	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:24860488G>A	ENST00000382095.4	+	5	970	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|SPATA13_ENST00000424834.2_Missense_Mutation_p.R813H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R691H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	188	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGTGGGGCCGCAGTGAAGAT	0.572																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2437-2439)cGc>cAc		spermatogenesis associated 13							64	61	62					13																	24860488		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860488G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.563G>A	13.37:g.24860488G>A	ENSP00000371527:p.Arg188His					SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000382095.4_Missense_Mutation_p.R188H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H	p.R813H			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2911	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	188					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2438G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555177	0.86231	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.12	5.12	0.69794	Src homology-3 domain (4);	0.047645	0.85682	D	0.000000	D	0.91123	0.7205	L	0.41961	1.31	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	1.0;0.992;1.0;0.999;0.992;0.998	D;P;D;D;P;D	0.87578	0.998;0.872;0.996;0.949;0.872;0.959	D	0.91856	0.5495	10	0.62326	D	0.03	.	17.5521	0.87879	0.0:0.0:1.0:0.0	.	110;132;134;134;110;188	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	H	813;188;148;134;110;110;132;132	ENSP00000371542:R813H;ENSP00000371527:R188H;ENSP00000401605:R148H;ENSP00000382830:R110H;ENSP00000386471:R110H;ENSP00000343631:R132H;ENSP00000397498:R132H	ENSP00000343631:R132H	R	+	2	0	SPATA13	23758488	1.000000	0.71417	0.975000	0.42487	0.514000	0.34195	6.270000	0.72563	2.393000	0.81446	0.561000	0.74099	CGC		0.572	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		4	254	0	0	0	1	0	4	254					A	24860488	G	A	24860488	3	1	46	1	0	0	0	0	1	0	0	0	15052	1087	38	1	2456	1	SPATA13	13	24860488	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		24860488	90309390	114	5519											
LNX2	222484	broad.mit.edu	37	chr13	28136823	28136823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctcggttgccaaagcgcctCtctcgaagcacagtaagatg	11	12	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:28136823C>G	ENST00000316334.3	-	5	1080	c.951G>C	c.(949-951)gaG>gaC	p.E317D		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	317	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAAAGCGCCTCTCTCGAAGCA	0.488																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(949-951)gaG>gaC		ligand of numb-protein X 2							124	118	120					13																	28136823		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28136823C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.951G>C	13.37:g.28136823C>G	ENSP00000325929:p.Glu317Asp						p.E317D	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1080	-		Lung SC(185;0.0156)	317			PDZ 1.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.951G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922741	0.92319	.	.	ENSG00000139517	ENST00000316334	T	0.27890	1.64	5.88	5.04	0.67666	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.16070	-1.0415	10	0.32370	T	0.25	.	14.8997	0.70670	0.0:0.9315:0.0:0.0685	.	317	Q8N448	LNX2_HUMAN	D	317	ENSP00000325929:E317D	ENSP00000325929:E317D	E	-	3	2	LNX2	27034823	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	3.788000	0.55446	1.480000	0.48289	0.655000	0.94253	GAG		0.488	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			76	277	0	0	0	1	0	76	277					G	28136823	C	G	28136823	3	3	46	1	0	0	0	0	1	0	0	0	8899	912	32	5	1145	5	LNX2	13	28136823	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	3276335	28136823	87033055	115	5520											
ZIC2	7546	broad.mit.edu	37	chr13	100635062	100635062	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctttttccgctatatgcgGcagcagtgcatcaagcagga	11	11	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:100635062G>C	ENST00000376335.3	+	1	1037	c.744G>C	c.(742-744)cgG>cgC	p.R248R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	248	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTATATGCGGCAGCAGTGCA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(742-744)cgG>cgC		Zic family member 2							75	79	77					13																	100635062		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635062G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.744G>C	13.37:g.100635062G>C							p.R248R	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1037	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		248			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.744G>C	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		13	491	0	0	0	1	0	13	491					C	100635062	G	C	100635062	2	2	46	1	0	0	0	0	0	0	0	1	17732	1190	42	5		5	ZIC2	13	100635062	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	72498239	100635062	14534816	116	5521											
MMP14	4323	broad.mit.edu	37	chr14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-													cttctgttcctgataaacccAaaaaccccacctatgggccc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aaafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGATAAACCCAAAAACCCCAC	0.577																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(928-930)aafs		matrix metallopeptidase 14 (membrane-inserted)							107	115	112					14																	23312996		2203	4300	6503	SO:0001589	frameshift_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312996delA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.928delA	14.37:g.23312996delA	ENSP00000308208:p.Lys310fs					MMP14_ENST00000548162.1_3'UTR	p.K310fs	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	6	1189	+	all_cancers(95;9.47e-05)		310					A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	c.928delA	CCDS9577.1																																																																																				0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		11	801						11	801	---	---	---	---	-	23312996	A	-	23312996	7	5	46	1	0	1	0	1	0	0	0	0	9694	131	5	0	950	0	MMP14	14	23312996	Frame_Shift_Del	DEL	A	TCGA-FB-A78T-01A-12D-A32N-08		23312996	84036544	117	5522											
MBIP	51562	broad.mit.edu	37	chr14	36783734	36783735	+	Frame_Shift_Ins	INS	-	-	T													taccttgattacaatcaataINSacattgcaaaattccctgac							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:36783734_36783735insT	ENST00000416007.4	-	4	641_642	c.554_555insA	c.(553-555)gttfs	p.V185fs	MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000603913.1_5'Flank	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	185	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TACAATCAATAACATTGCAAAA	0.277																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(553-555)gatfs		MAP3K12 binding inhibitory protein 1																																				SO:0001589	frameshift_variant	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783734_36783735insT	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.554_555insA	14.37:g.36783734_36783735insT	ENSP00000399718:p.Val185fs					MBIP_ENST00000359527.7_Frame_Shift_Ins_p.D185fs|MBIP_ENST00000318473.7_Frame_Shift_Ins_p.D185fs	p.D185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	641_642	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		185			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Ins	INS	ENST00000416007.4	37	c.554_555insA	CCDS9658.1																																																																																				0.277	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		26	89						26	89	---	---	---	---	T	36783735	-	T	36783734	7	5	46	1	0	1	1	0	0	0	0	0	9390	349	13	0	503	0	MBIP	14	36783734	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	13470738	36783734	70565806	118	5523											
FANCM	57697	broad.mit.edu	37	chr14	45623197	45623197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggttatgaattattgcaGcaaatgggaatgagatcatt	10	4	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:45623197G>A	ENST00000267430.5	+	6	1210	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	FANCM_ENST00000556036.1_Silent_p.Q375Q|FANCM_ENST00000542564.2_Silent_p.Q349Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	375					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTATTGCAGCAAATGGGAA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1123-1125)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							141	145	143					14																	45623197		2203	4299	6502	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45623197G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1125G>A	14.37:g.45623197G>A						FANCM_ENST00000556036.1_Silent_p.Q375Q|FANCM_ENST00000542564.2_Silent_p.Q349Q	p.Q375Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			6	1210	+			375					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.1125G>A	CCDS32070.1																																																																																				0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	462	0	0	0	1	0	5	462					A	45623197	G	A	45623197	2	1	46	1	0	0	0	0	0	0	0	1	5696	962	34	2		2	FANCM	14	45623197	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	8839463	45623197	61726343	119	5524											
TMEM30B	161291	broad.mit.edu	37	chr14	61746986	61746986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggccgccgaacgcgcGcaccgggtagttgtaggtga	16	11	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:61746986G>A	ENST00000555868.1	-	1	1572	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	294					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V293fs*>57(1)		breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCGAACGCGCGCACCGGGTAG	0.657																																						ENST00000555868.1																			1	Deletion - Frameshift(1)	p.V293fs*>57(1)	breast(1)	breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6						c.(880-882)Cgc>Tgc		transmembrane protein 30B							51	49	49					14																	61746986		2203	4300	6503	SO:0001583	missense	161291					integral to membrane		g.chr14:61746986G>A	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.880C>T	14.37:g.61746986G>A	ENSP00000450842:p.Arg294Cys					TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C	p.R294C	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	1	1572	-			294					B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	c.880C>T	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030021	0.75504	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.67	3.77	0.43336	.	0.167016	0.39759	N	0.001265	T	0.60907	0.2305	M	0.79926	2.475	0.40875	D	0.983942	D	0.54397	0.966	B	0.44224	0.444	T	0.68123	-0.5492	9	0.52906	T	0.07	-30.0625	12.0352	0.53420	0.0:0.0:0.8264:0.1735	.	294	Q3MIR4	CC50B_HUMAN	C	294	.	ENSP00000347930:R294C	R	-	1	0	TMEM30B	60816739	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.801000	0.47908	1.163000	0.42636	0.650000	0.86243	CGC		0.657	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		4	162	0	0	0	1	0	4	162					A	61746986	G	A	61746986	3	1	46	1	0	0	0	0	1	0	0	0	16206	1087	38	1	179	1	TMEM30B	14	61746986	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16123789	61746986	45602554	120	5525											
CDC42BPB	9578	broad.mit.edu	37	chr14	103450025	103450025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtatttgcccatgccGtcctccatcgcctgcaggat	10	16	0	0	rs369545971		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:103450025G>A	ENST00000361246.2	-	7	1047	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCATGCCGTCCTCCATCG	0.582																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(757-759)gaC>gaT		CDC42 binding protein kinase beta (DMPK-like)		G		1,4405	2.1+/-5.4	0,1,2202	93	86	88		759	-4.4	1	14		88	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1712	103450025	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103450025G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.759C>T	14.37:g.103450025G>A							p.D253D	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	7	1047	-		Melanoma(154;0.155)	253			Protein kinase.			Silent	SNP	ENST00000361246.2	37	c.759C>T	CCDS9978.1																																																																																				0.582	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		6	219	0	0	0	1	0	6	219					A	103450025	G	A	103450025	2	1	46	1	0	0	0	0	0	0	0	1	3082	1136	40	1		1	CDC42BPB	14	103450025	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	41703039	103450025	3899515	121	5526											
APBA2	321	broad.mit.edu	37	chr15	29397624	29397624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaggccttcagcgtgGcctaccaggagttcctgcga	13	14	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:29397624G>T	ENST00000558402.1	+	12	2166	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	523	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTTCAGCGTGGCCTACCAGGA	0.612																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Gcc>Tcc		amyloid beta (A4) precursor protein-binding, family A, member 2							97	70	79					15																	29397624		2201	4300	6501	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29397624G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1567G>T	15.37:g.29397624G>T	ENSP00000453293:p.Ala523Ser					APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000411764.1_Missense_Mutation_p.A511S	p.A523S			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	12	2166	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	523			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1567G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292777	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.22336	1.96	4.32	3.4	0.38934	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.211286	0.40385	N	0.001111	T	0.50017	0.1591	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;D;D	0.91635	0.865;0.993;0.999	T	0.59343	-0.7472	10	0.72032	D	0.01	.	13.037	0.58877	0.0:0.0:0.8378:0.1622	.	511;511;523	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	S	511;523	ENSP00000409312:A511S	ENSP00000219865:A523S	A	+	1	0	APBA2	27184916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.352000	0.97076	1.130000	0.42092	-0.310000	0.09108	GCC		0.612	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		54	109	1	0	2.82306e-37	1	3.1457e-37	54	109					T	29397624	G	T	29397624	3	4	46	1	0	0	0	0	1	0	0	0	757	1203	42	3	1597	3	APBA2	15	29397624	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		29397624	73133768	122	5527											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		6	524	0	0	0	1	0	6	524					C	72954797	T	C	72954797	3	2	46	1	0	0	0	0	1	0	0	0	6587	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	43557173	72954797	29576595	123	5528											
LMAN1L	79748	broad.mit.edu	37	chr15	75109005	75109005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgtgctggccagcgaCgggcacatcccctctgagca	12	15	1	1	rs535407762		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:75109005C>T	ENST00000309664.5	+	4	610	c.471C>T	c.(469-471)gaC>gaT	p.D157D	LMAN1L_ENST00000379709.3_Silent_p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	157	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCAGCGACGGGCACATCC	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		15450	0.001		0.0	False		,,,				2504	0.0					ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(469-471)gaC>gaT		lectin, mannose-binding, 1 like							66	63	64					15																	75109005		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75109005C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.471C>T	15.37:g.75109005C>T						LMAN1L_ENST00000379709.3_Silent_p.D157D	p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			4	610	+			157			L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.471C>T	CCDS10270.1																																																																																				0.677	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			52	182	0	0	0	1	0	52	182					T	75109005	C	T	75109005	2	4	46	1	0	0	0	0	0	0	0	1	8870	535	19	1		1	LMAN1L	15	75109005	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2154208	75109005	27422387	124	5529											
C15orf27	123591	broad.mit.edu	37	chr15	76496126	76496126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtatggtcaccacggccGcaatagacattcaccagccc	9	14	2	1	rs556150508		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:76496126G>A	ENST00000388942.3	+	11	1342	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	356					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CACCACGGCCGCAATAGACAT	0.602																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(1066-1068)Gca>Aca		chromosome 15 open reading frame 27							216	187	197					15																	76496126		2197	4294	6491	SO:0001583	missense	123591					integral to membrane		g.chr15:76496126G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1066G>A	15.37:g.76496126G>A	ENSP00000373594:p.Ala356Thr						p.A356T	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			11	1342	+			356					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1066G>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526304	0.64860	.	.	ENSG00000169758	ENST00000388942	T	0.50277	0.75	5.0	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.74258	2.255	0.54753	D	0.999989	D;P	0.55800	0.973;0.874	B;B	0.43950	0.437;0.142	T	0.54241	-0.8323	10	0.51188	T	0.08	-7.8183	10.848	0.46754	0.0878:0.0:0.9122:0.0	.	320;356	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	T	356	ENSP00000373594:A356T	ENSP00000373594:A356T	A	+	1	0	C15orf27	74283181	1.000000	0.71417	0.869000	0.34112	0.360000	0.29518	6.069000	0.71209	1.096000	0.41439	0.455000	0.32223	GCA		0.602	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		8	809	0	0	0	1	0	8	809					A	76496126	G	A	76496126	3	1	46	1	0	0	0	0	1	0	0	0	1793	1087	38	1	1104	1	C15orf27	15	76496126	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1387121	76496126	26035266	125	5530											
ADAMTS7	11173	broad.mit.edu	37	chr15	79051843	79051843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcggcagcactgggtgcGgatggtgggcagctggcagc	20	10	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:79051843G>A	ENST00000388820.4	-	24	5191	c.4981C>T	c.(4981-4983)Cgc>Tgc	p.R1661C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1661	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACTGGGTGCGGATGGTGGGC	0.726																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4981-4983)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9	11	10					15																	79051843		2109	4183	6292	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051843G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4981C>T	15.37:g.79051843G>A	ENSP00000373472:p.Arg1661Cys						p.R1661C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5191	-			1661			PLAC.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4981C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.107509	0.37145	.	.	ENSG00000136378	ENST00000388820	T	0.62105	0.05	2.92	1.86	0.25419	PLAC (1);	0.082330	0.49305	U	0.000156	T	0.74898	0.3777	M	0.75264	2.295	0.46678	D	0.99915	D	0.89917	1.0	D	0.83275	0.996	T	0.77661	-0.2504	10	0.87932	D	0	.	10.268	0.43466	0.0:0.0:0.8027:0.1973	.	1661	Q9UKP4	ATS7_HUMAN	C	1661	ENSP00000373472:R1661C	ENSP00000373472:R1661C	R	-	1	0	ADAMTS7	76838898	0.960000	0.32886	0.217000	0.23759	0.006000	0.05464	3.130000	0.50508	1.639000	0.50556	0.282000	0.19409	CGC		0.726	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		7	76	0	0	0	1	0	7	76					A	79051843	G	A	79051843	3	1	46	1	0	0	0	0	1	0	0	0	271	1116	39	1	83	1	ADAMTS7	15	79051843	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2555717	79051843	23479549	126	5531											
KIAA0556	23247	broad.mit.edu	37	chr16	27751992	27751992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcaggctcccatcagacGatgtcatcggtgagggtcct	14	11	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:27751992G>A	ENST00000261588.4	+	15	2393	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	792						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATCAGACGATGTCATCGG	0.632																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2374-2376)Gat>Aat		KIAA0556							63	65	64					16																	27751992		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751992G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2374G>A	16.37:g.27751992G>A	ENSP00000261588:p.Asp792Asn						p.D792N	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2393	+			792					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2374G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939489	0.18281	.	.	ENSG00000047578	ENST00000261588	T	0.09630	2.96	4.74	-0.748	0.11087	.	0.797485	0.11737	N	0.534391	T	0.09512	0.0234	L	0.60455	1.87	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.33085	-0.9882	10	0.33141	T	0.24	-13.2319	4.3005	0.10922	0.332:0.0:0.5208:0.1471	.	792	O60303	K0556_HUMAN	N	792	ENSP00000261588:D792N	ENSP00000261588:D792N	D	+	1	0	KIAA0556	27659493	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.252000	0.08806	-0.293000	0.08986	-1.169000	0.01745	GAT		0.632	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		5	444	0	0	0	1	0	5	444					A	27751992	G	A	27751992	3	1	46	1	0	0	0	0	1	0	0	0	8213	1058	37	1	2432	1	KIAA0556	16	27751992	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		27751992	62602761	127	5532											
SETD1A	9739	broad.mit.edu	37	chr16	30976932	30976932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcaggcttctccatGctcttctggagacgacatgg	11	15	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:30976932G>C	ENST00000262519.8	+	8	2416	c.1730G>C	c.(1729-1731)tGc>tCc	p.C577S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	577	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCTTCTCCATGCTCTTCTGGA	0.657																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1729-1731)tGc>tCc		SET domain containing 1A							22	26	25					16																	30976932		2191	4292	6483	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976932G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1730G>C	16.37:g.30976932G>C	ENSP00000262519:p.Cys577Ser						p.C577S	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2416	+			577			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1730G>C	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	5.311	0.242720	0.10077	.	.	ENSG00000099381	ENST00000262519	D	0.93189	-3.18	4.41	3.37	0.38596	.	0.764642	0.12331	N	0.478349	T	0.81182	0.4769	N	0.08118	0	0.24087	N	0.995927	B	0.19935	0.04	B	0.14023	0.01	T	0.68273	-0.5452	10	0.08837	T	0.75	.	5.2236	0.15381	0.2079:0.0:0.7921:0.0	.	577	O15047	SET1A_HUMAN	S	577	ENSP00000262519:C577S	ENSP00000262519:C577S	C	+	2	0	SETD1A	30884433	0.979000	0.34478	0.999000	0.59377	0.934000	0.57294	1.378000	0.34328	2.269000	0.75478	0.561000	0.74099	TGC		0.657	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		4	260	0	0	0	1	0	4	260					C	30976932	G	C	30976932	3	2	46	1	0	0	0	0	1	0	0	0	14180	1319	46	5	1756	5	SETD1A	16	30976932	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3224940	30976932	59377821	128	5533											
SLC5A2	6524	broad.mit.edu	37	chr16	31500513	31500513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgattcccgagttctccttcGgctcgggcagctgtgtgcag	13	12	1	1	rs372027584		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:31500513G>C	ENST00000330498.3	+	12	1538	c.1519G>C	c.(1519-1521)Ggc>Cgc	p.G507R	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	507					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GTTCTCCTTCGGCTCGGGCAG	0.637																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1519-1521)Ggc>Cgc		solute carrier family 5 (sodium/glucose cotransporter), member 2							71	57	62					16																	31500513		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500513G>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1519G>C	16.37:g.31500513G>C	ENSP00000327943:p.Gly507Arg						p.G507R	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			12	1538	+			507					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1519G>C	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702935|3.702935	0.68501|0.68501	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000330498|ENST00000419665	D|D	0.86769|0.86366	-2.17|-2.11	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90950|0.90950	0.7155|0.7155	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91742|0.91742	0.5405|0.5405	10|7	0.11794|0.66056	T|D	0.64|0.02	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	P31639|.	SC5A2_HUMAN|.	R|P	507|400	ENSP00000327943:G507R|ENSP00000410601:R400P	ENSP00000327943:G507R|ENSP00000410601:R400P	G|R	+|+	1|2	0|0	SLC5A2|SLC5A2	31408014|31408014	1.000000|1.000000	0.71417|0.71417	0.587000|0.587000	0.28692|0.28692	0.658000|0.658000	0.38924|0.38924	3.548000|3.548000	0.53670|0.53670	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.637	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			102	243	0	0	0	1	0	102	243					C	31500513	G	C	31500513	3	2	46	1	0	0	0	0	1	0	0	0	14715	1116	39	5	1565	5	SLC5A2	16	31500513	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	523581	31500513	58854240	129	5534											
OGFOD1	55239	broad.mit.edu	37	chr16	56509438	56509439	+	Frame_Shift_Ins	INS	-	-	G													gctgggagccagaatatggcINSggttttacttcttacattgc					rs200387944|rs181095853	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:56509438_56509439insG	ENST00000566157.1	+	12	1551_1552	c.1428_1429insG	c.(1429-1431)ggtfs	p.G477fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.G434fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	477					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CAGAATATGGCGGTTTTACTTC	0.371																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1426-1431)gggtttfs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509438_56509439insG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1430dupG	16.37:g.56509440_56509440dupG	ENSP00000457258:p.Gly477fs					OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs	p.F477fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			12	1551_1552	+			477					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	ENST00000566157.1	37	c.1428_1429insG	CCDS10761.2																																																																																				0.371	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		17	459						17	459	---	---	---	---	G	56509439	-	G	56509438	7	5	46	1	0	1	1	0	0	0	0	0	10883	755	27	0	1474	0	OGFOD1	16	56509438	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	25008925	56509438	33845315	130	5535											
ZFHX3	463	broad.mit.edu	37	chr16	72828136	72828136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaactgaggacatggagggGctttcaaagtcttcaatccc	10	9	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72828136G>T	ENST00000268489.5	-	9	9117	c.8445C>A	c.(8443-8445)agC>agA	p.S2815R	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2815					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)			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)				ACATGGAGGGGCTTTCAAAGT	0.463																																						ENST00000268489.5																			0				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						c.(8443-8445)agC>agA		zinc finger homeobox 3							120	113	115					16																	72828136		2198	4300	6498	SO:0001583	missense	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.chr16:72828136G>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.8445C>A	16.37:g.72828136G>T	ENSP00000268489:p.Ser2815Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	p.S2815R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9117	-		Ovarian(137;0.13)	2815					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8445C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551346	0.13374	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74421	-0.84;-0.81	5.96	3.78	0.43462	.	0.000000	0.64402	D	0.000013	T	0.76926	0.4056	L	0.44542	1.39	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.73506	-0.3961	10	0.30854	T	0.27	.	6.6486	0.22949	0.365:0.0:0.635:0.0	.	2815	Q15911	ZFHX3_HUMAN	R	2815;1901	ENSP00000268489:S2815R;ENSP00000438926:S1901R	ENSP00000268489:S2815R	S	-	3	2	ZFHX3	71385637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.411000	0.34702	1.459000	0.47892	0.650000	0.86243	AGC		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	413	1	0	0.00198382	1	0.00205404	7	413					T	72828136	G	T	72828136	3	4	46	1	0	0	0	0	1	0	0	0	17687	1194	42	3	2674	3	ZFHX3	16	72828136	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16318698	72828136	17526617	131	5536											
ZFHX3	463	broad.mit.edu	37	chr16	72992317	72992317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccacattggccctgacGccctcactgttaaagcttaa	7	14	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72992317G>A	ENST00000268489.5	-	2	2400	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	576					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)			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)				TGGCCCTGACGCCCTCACTGT	0.502																																						ENST00000268489.5																			0				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						c.(1726-1728)ggC>ggT		zinc finger homeobox 3							100	95	96					16																	72992317		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.chr16:72992317G>A	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.1728C>T	16.37:g.72992317G>A						ZFHX3_ENST00000397992.5_Intron	p.G576G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2400	-		Ovarian(137;0.13)	576					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1728C>T	CCDS10908.1																																																																																				0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		95	284	0	0	0	1	0	95	284					A	72992317	G	A	72992317	2	1	46	1	0	0	0	0	0	0	0	1	17687	1074	38	1		1	ZFHX3	16	72992317	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	164181	72992317	17362436	132	5537											
SRR	63826	broad.mit.edu	37	chr17	2224891	2224891	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggaggaggaatgcttgctgGaatagcaattacagttaagg	14	4	0	0	rs141694122	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:2224891G>C	ENST00000344595.5	+	6	893	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	192					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	ATGCTTGCTGGAATAGCAATT	0.403													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17599	0.0		0.001	False		,,,				2504	0.0					ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(574-576)gGa>gCa		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G	ALA/GLY	0,4406		0,0,2203	105	100	102		575	5.9	1	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRR	NM_021947.1	60	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	192/341	2224891	2,13004	2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224891G>C	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.575G>C	17.37:g.2224891G>C	ENSP00000339435:p.Gly192Ala					SRR_ENST00000576848.1_Intron	p.G192A	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	893	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	192					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.575G>C	CCDS11017.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460526	0.84317	0.0	2.33E-4	ENSG00000167720	ENST00000344595	D	0.98419	-4.92	5.95	5.95	0.96441	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98740	1.0716	10	0.87932	D	0	3.4694	19.4464	0.94849	0.0:0.0:1.0:0.0	.	192	Q9GZT4	SRR_HUMAN	A	192	ENSP00000339435:G192A	ENSP00000339435:G192A	G	+	2	0	SRR	2171641	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.265000	0.72534	2.836000	0.97738	0.650000	0.86243	GGA		0.403	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		18	235	0	0	0	1	0	18	235					C	2224891	G	C	2224891	3	2	46	1	0	0	0	0	1	0	0	0	15218	1174	41	5	593	5	SRR	17	2224891	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		2224891	78970319	133	5538											
NUP88	4927	broad.mit.edu	37	chr17	5322895	5322895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtccctcccggagccGcaagaacacgacgtggttag	11	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:5322895G>A	ENST00000573584.1	-	1	585	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	26					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCCCGGAGCCGCAAGAACACG	0.632																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(76-78)Cgg>Tgg		nucleoporin 88kDa							73	72	73					17																	5322895		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322895G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.76C>T	17.37:g.5322895G>A	ENSP00000458954:p.Arg26Trp						p.R26W	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	585	-			26					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.76C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020434	0.75275	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	4.22	0.49857	.	0.284904	0.36482	N	0.002578	T	0.69351	0.3101	L	0.51422	1.61	0.45914	D	0.998751	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.72527	-0.4266	9	0.72032	D	0.01	-5.8985	13.2216	0.59892	0.0:0.0:0.8397:0.1603	.	26;26	B7Z5I6;Q99567	.;NUP88_HUMAN	W	26	.	ENSP00000225696:R26W	R	-	1	2	NUP88	5263619	0.557000	0.26546	0.958000	0.39756	0.439000	0.31926	1.231000	0.32624	1.548000	0.49413	0.655000	0.94253	CGG		0.632	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		5	346	0	0	0	1	0	5	346					A	5322895	G	A	5322895	3	1	46	1	0	0	0	0	1	0	0	0	10813	1086	38	1	2217	1	NUP88	17	5322895	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3098004	5322895	75872315	134	5539											
BCL6B	255877	broad.mit.edu	37	chr17	6927434	6927434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaattttccggggccgtgCgggagtcggggtggacgtgc	18	9	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:6927434C>T	ENST00000293805.5	+	3	304	c.212C>T	c.(211-213)gCg>gTg	p.A71V	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	71	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CGGGGCCGTGCGGGAGTCGGG	0.597																																						ENST00000293805.5																			0				skin(1)	1						c.(211-213)gCg>gTg		B-cell CLL/lymphoma 6, member B							78	90	87					17																	6927434		1904	4109	6013	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927434C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.212C>T	17.37:g.6927434C>T	ENSP00000293805:p.Ala71Val					BCL6B_ENST00000572216.1_Intron	p.A71V	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			3	304	+			71			BTB.		Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.212C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729881	0.48833	.	.	ENSG00000161940	ENST00000293805	T	0.70282	-0.47	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.483098	0.22285	N	0.062075	T	0.50956	0.1646	N	0.16166	0.38	0.31830	N	0.624817	B	0.26672	0.156	B	0.16722	0.016	T	0.58589	-0.7610	10	0.56958	D	0.05	.	9.3794	0.38304	0.0:0.9052:0.0:0.0948	.	71	Q8N143	BCL6B_HUMAN	V	71	ENSP00000293805:A71V	ENSP00000293805:A71V	A	+	2	0	BCL6B	6868158	0.158000	0.22850	0.998000	0.56505	0.993000	0.82548	0.297000	0.19101	2.635000	0.89317	0.563000	0.77884	GCG		0.597	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		7	796	0	0	0	1	0	7	796					T	6927434	C	T	6927434	3	4	46	1	0	0	0	0	1	0	0	0	1378	768	27	1	218	1	BCL6B	17	6927434	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1604539	6927434	74267776	135	5540											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cTg	Other conserved DNA damage response genes	tumor protein p53							152	112	126					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>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.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu	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_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L	p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	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	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		68	162	1	0	4.83248e-46	1	5.41053e-46	68	162					A	7577538	C	A	7577538	3	1	46	1	0	0	0	0	1	0	0	0	16434	652	23	3	547	3	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	650104	7577538	73617672	136	5541											
MYH4	4622	broad.mit.edu	37	chr17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1333-1335)cGc>cAc		myosin, heavy chain 4, skeletal muscle							196	181	186					17																	10363351		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363351C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1334G>A	17.37:g.10363351C>T	ENSP00000255381:p.Arg445His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R445H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			14	1444	-			445			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1334G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456265	0.96223	.	.	ENSG00000141048	ENST00000255381	D	0.88741	-2.42	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.38272	U	0.001758	D	0.95639	0.8582	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96124	0.9087	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	445	Q9Y623	MYH4_HUMAN	H	445	ENSP00000255381:R445H	ENSP00000255381:R445H	R	-	2	0	MYH4	10304076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.669000	0.90835	0.650000	0.86243	CGC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	537	0	0	0	1	0	5	537					T	10363351	C	T	10363351	3	4	46	1	0	0	0	0	1	0	0	0	10078	768	27	1	4593	1	MYH4	17	10363351	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2785813	10363351	70831859	137	5542											
UNC45B	146862	broad.mit.edu	37	chr17	33501285	33501285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggactttatagacatgCgggtgaagcggcttctgaag	14	6	1	4	rs183680447	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:33501285C>T	ENST00000268876.5	+	14	1958	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	621					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				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)				TATAGACATGCGGGTGAAGCG	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		18490	0.0		0.003	False		,,,				2504	0.0					ENST00000268876.5																			0				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						c.(1861-1863)Cgg>Tgg		unc-45 homolog B (C. elegans)							132	129	130					17																	33501285		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501285C>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.1861C>T	17.37:g.33501285C>T	ENSP00000268876:p.Arg621Trp					UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W	p.R621W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			14	1958	+		Ovarian(249;0.17)	621					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1861C>T	CCDS11292.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.11	3.031224	0.54790	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.70045	-0.45;-0.45;-0.45	5.03	2.91	0.33838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.88906	2.99	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.86536	0.1825	10	0.87932	D	0	-28.04	13.2095	0.59817	0.2876:0.7124:0.0:0.0	.	540;619;621	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	621;621;619;540	ENSP00000268876:R621W;ENSP00000412840:R619W;ENSP00000367710:R540W	ENSP00000268876:R621W	R	+	1	2	UNC45B	30525398	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.897000	0.56273	1.316000	0.45131	0.591000	0.81541	CGG		0.547	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		6	690	0	0	0	1	0	6	690					T	33501285	C	T	33501285	3	4	46	1	0	0	0	0	1	0	0	0	17043	759	27	1	1911	1	UNC45B	17	33501285	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	23137934	33501285	47693925	138	5543											
HSPB9	94086	broad.mit.edu	37	chr17	40275109	40275109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggctgatggtgaccGgacagcagcaactggacgtc	14	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:40275109G>A	ENST00000355067.3	+	1	354	c.241G>A	c.(241-243)Gga>Aga	p.G81R	KAT2A_ENST00000225916.5_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	81					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GATGGTGACCGGACAGCAGCA	0.597																																						ENST00000355067.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4						c.(241-243)Gga>Aga		heat shock protein, alpha-crystallin-related, B9							116	103	107					17																	40275109		2203	4300	6503	SO:0001583	missense	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275109G>A	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"Heat shock proteins / HSPB"	30589	protein-coding gene	gene with protein product	"cancer/testis antigen 51"	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.241G>A	17.37:g.40275109G>A	ENSP00000347178:p.Gly81Arg					CTD-2132N18.3_ENST00000592574.1_Intron	p.G81R	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	354	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	81					B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	37	c.241G>A	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174878	0.57692	.	.	ENSG00000197723	ENST00000355067	D	0.95622	-3.76	3.68	-0.645	0.11475	Heat shock protein Hsp20 (2);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.84511	2.7	0.31280	N	0.690707	P	0.43352	0.804	B	0.37144	0.242	D	0.89203	0.3559	10	0.87932	D	0	-18.9973	4.7991	0.13287	0.2826:0.1571:0.5603:0.0	.	81	Q9BQS6	HSPB9_HUMAN	R	81	ENSP00000347178:G81R	ENSP00000347178:G81R	G	+	1	0	HSPB9	37528635	0.976000	0.34144	0.716000	0.30569	0.009000	0.06853	2.377000	0.44300	-0.047000	0.13423	-1.157000	0.01802	GGA		0.597	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		6	534	0	0	0	1	0	6	534					A	40275109	G	A	40275109	3	1	46	1	0	0	0	0	1	0	0	0	7454	1117	39	1	243	1	HSPB9	17	40275109	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6773824	40275109	40920101	139	5544											
TRIM37	4591	broad.mit.edu	37	chr17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttttctcaaccGcaggcaagccactgaaaact	5	14	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism																													ENST00000376149.3																			1	Substitution - Missense(1)	p.A848V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)gCg>gTg		tripartite motif containing 37							125	133	130					17																	57093004		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093004G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val					TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V	p.A726V			O94972	TRI37_HUMAN			21	2986	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		848					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2177C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		5	704	0	0	0	1	0	5	704					A	57093004	G	A	57093004	3	1	46	1	0	0	0	0	1	0	0	0	16564	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16817895	57093004	24102206	140	5545											
FOXJ1	2302	broad.mit.edu	37	chr17	74136135	74136135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgtgcggattggtggcGtagtccacgtcgtcgggggg	18	9	1	0	rs200854622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:74136135G>A	ENST00000322957.6	-	2	696	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	114					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GATTGGTGGCGTAGTCCACGT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10843	0.001		0.0	False		,,,				2504	0.0					ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(340-342)taC>taT		forkhead box J1							61	47	52					17																	74136135		2203	4300	6503	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.chr17:74136135G>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.342C>T	17.37:g.74136135G>A							p.Y114Y	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	696	-			114					O00630	Silent	SNP	ENST00000322957.6	37	c.342C>T	CCDS32739.1																																																																																				0.692	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		59	159	0	0	0	1	0	59	159					A	74136135	G	A	74136135	2	1	46	1	0	0	0	0	0	0	0	1	6038	1140	40	1		1	FOXJ1	17	74136135	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	17043131	74136135	7059075	141	5546											
TNRC6C	57690	broad.mit.edu	37	chr17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcttggagtggggccGcaaatcaggaggacaagtca	15	9	2	0	rs200217894		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.0	False		,,,				2504	0.001					ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1684-1686)Gca>Aca		trinucleotide repeat containing 6C		G	THR/ALA,THR/ALA	0,4056		0,0,2028	53	59	57		1684,1684	3.8	0.6	17		57	1,8375		0,1,4187	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6215	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	562/1727,562/1691	76046827	1,12431	2028	4188	6216	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046827G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1684G>A	17.37:g.76046827G>A	ENSP00000468647:p.Ala562Thr					TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T	p.A562T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2253	+			562			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1684G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		5	429	0	0	0	1	0	5	429					A	76046827	G	A	76046827	3	1	46	1	0	0	0	0	1	0	0	0	16394	1087	38	1	1686	1	TNRC6C	17	76046827	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1910692	76046827	5148383	142	5547											
POTEC	388468	broad.mit.edu	37	chr18	14542996	14542996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcttcataaaggagtcGtcgtggtctccagaagtgcc	11	10	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:14542996G>A	ENST00000358970.5	-	1	149	c.150C>T	c.(148-150)gaC>gaT	p.D50D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TAAAGGAGTCGTCGTGGTCTC	0.587																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(148-150)gaC>gaT		POTE ankyrin domain family, member C							47	51	49					18																	14542996		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542996G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.150C>T	18.37:g.14542996G>A						POTEC_ENST00000389891.4_5'UTR	p.D50D	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	149	-			50						Silent	SNP	ENST00000358970.5	37	c.150C>T	CCDS45835.1																																																																																				0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	713	0	0	0	1	0	6	713					A	14542996	G	A	14542996	2	1	46	1	0	0	0	0	0	0	0	1	12304	1136	40	1		1	POTEC	18	14542996	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		14542996	63534252	143	5548											
SMAD4	4089	broad.mit.edu	37	chr18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccaagacagagcatcaaaGaaacaccttgctggattgaa	8	10	1	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.E520*(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1558-1560)Gaa>Taa		SMAD family member 4							98	94	96					18																	48604736		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604736G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1558G>T	18.37:g.48604736G>T	ENSP00000341551:p.Glu520*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR	p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2096	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	520			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1558G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		126	210	1	0	9.05284e-58	1	1.01844e-57	126	210					T	48604736	G	T	48604736	4	4	46	1	0	0	0	0	0	1	0	0	14810	943	33	3	1600	3	SMAD4	18	48604736	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	34061740	48604736	29472512	144	5549											
PLIN4	729359	broad.mit.edu	37	chr19	4511842	4511842	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctggacagtccctttggcGacattcactgcccccatgag	10	14	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:4511842G>A	ENST00000301286.3	-	3	2087	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	696	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCTTTGGCGACATTCACTG	0.602																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2086-2088)gtC>gtT		perilipin 4							252	273	266					19																	4511842		2157	4252	6409	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511842G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2088C>T	19.37:g.4511842G>A							p.V696V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2087	-			696			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2088C>T	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		234	1660	0	0	0	1	0	234	1660					A	4511842	G	A	4511842	2	1	46	1	0	0	0	0	0	0	0	1	12134	1045	37	1		1	PLIN4	19	4511842	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		4511842	54617141	145	5550											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	351						8	351	---	---	---	---	-	11038364	GCT	-	11038362	7	5	46	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-FB-A78T-01A-12D-A32N-08	6526520	11038362	48090621	146	5551											
ABHD8	79575	broad.mit.edu	37	chr19	17412239	17412239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgcatccgaggatgCggatgatggtggaggtgggg	21	6	0	1	rs374386420		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:17412239C>T	ENST00000247706.3	-	2	426	c.187G>A	c.(187-189)Gca>Aca	p.A63T	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	63							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCGAGGATGCGGATGATGGT	0.667																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(187-189)Gca>Aca		abhydrolase domain containing 8							20	25	23					19																	17412239		2195	4289	6484	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412239C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.187G>A	19.37:g.17412239C>T	ENSP00000247706:p.Ala63Thr					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A63T	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	426	-			63					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.187G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395488	0.01175	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.31769	1.48	1.59	-3.18	0.05186	.	0.496656	0.14259	U	0.330929	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.34782	T	0.22	.	4.2714	0.10789	0.0:0.3731:0.4229:0.204	.	63	Q96I13	ABHD8_HUMAN	T	63;9	ENSP00000247706:A63T	ENSP00000247706:A63T	A	-	1	0	ABHD8	17273239	0.730000	0.28100	0.000000	0.03702	0.023000	0.10783	0.878000	0.28126	-0.771000	0.04608	-0.339000	0.08088	GCA		0.667	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		4	207	0	0	0	1	0	4	207					T	17412239	C	T	17412239	3	4	46	1	0	0	0	0	1	0	0	0	87	768	27	1	1148	1	ABHD8	19	17412239	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	6373877	17412239	41716744	147	5552											
ZNF626	199777	broad.mit.edu	37	chr19	20807353	20807353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagtatgaattctccTatgtgtagtaaggattgagg	10	7	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807353T>C	ENST00000601440.1	-	4	1476	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGAATTCTCCTATGTGTAGTA	0.373																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1330-1332)Agg>Ggg		zinc finger protein 626							65	59	61					19																	20807353		2108	4259	6367	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807353T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1330A>G	19.37:g.20807353T>C	ENSP00000469958:p.Arg444Gly					CTC-513N18.7_ENST00000595094.1_lincRNA	p.R444G	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1476	-			444					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1330A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.713	-0.786488	0.02907	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50718	0.1632	L	0.58101	1.795	0.80722	D	1	B	0.23806	0.091	B	0.33121	0.158	T	0.49447	-0.8939	8	0.87932	D	0	.	3.5311	0.07777	0.0:0.0:0.4169:0.583	.	444	Q68DY1	ZN626_HUMAN	G	444;368;444	.	ENSP00000445201:R444G	R	-	1	2	ZNF626	20599193	0.121000	0.22262	0.006000	0.13384	0.006000	0.05464	0.065000	0.14466	0.148000	0.19059	0.147000	0.16070	AGG		0.373	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	296	0	0	0	1	0	4	296					C	20807353	T	C	20807353	3	2	46	1	0	0	0	0	1	0	0	0	18103	1521	53	4	260	4	ZNF626	19	20807353	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	3395114	20807353	38321630	148	5553											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	330	0	0	0	1	0	6	330					C	20807460	T	C	20807460	3	2	46	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	107	20807460	38321523	149	5554											
KIAA0355	9710	broad.mit.edu	37	chr19	34832943	34832943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccccctccaccacggGcaccccaggctggggcacac	11	20	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:34832943G>T	ENST00000299505.6	+	10	2977	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	702										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCACCACGGGCACCCCAGGC	0.612																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2104-2106)Gca>Tca		KIAA0355							74	77	76					19																	34832943		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832943G>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2104G>T	19.37:g.34832943G>T	ENSP00000299505:p.Ala702Ser						p.A702S	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2977	+	Esophageal squamous(110;0.162)		702					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2104G>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742098	0.30865	.	.	ENSG00000166398	ENST00000299505	T	0.20463	2.07	5.21	3.03	0.35002	.	0.227351	0.35262	N	0.003338	T	0.12689	0.0308	N	0.08118	0	0.21416	N	0.999696	B	0.11235	0.004	B	0.16289	0.015	T	0.26189	-1.0110	10	0.87932	D	0	-24.5999	15.1737	0.72894	0.0:0.7283:0.2717:0.0	.	702	O15063	K0355_HUMAN	S	702	ENSP00000299505:A702S	ENSP00000299505:A702S	A	+	1	0	KIAA0355	39524783	0.134000	0.22483	0.405000	0.26409	0.928000	0.56348	0.848000	0.27710	0.697000	0.31718	-0.147000	0.13772	GCA		0.612	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		76	303	1	0	1.03218e-28	1	1.1393e-28	76	303					T	34832943	G	T	34832943	3	4	46	1	0	0	0	0	1	0	0	0	8200	1203	42	3	2138	3	KIAA0355	19	34832943	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14025483	34832943	24296040	150	5555											
DMKN	93099	broad.mit.edu	37	chr19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-													tgctgccaccactgttgccaCtgctgccaccactgctgccg					rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																						ENST00000339686.3																			1	Deletion - In frame(1)	p.S274_S290del(1)	ovary(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(817-870)agt>ag		dermokine			,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				SO:0001651	inframe_deletion	93099					extracellular region		g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del					DMKN_ENST00000418261.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000447113.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000440396.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000451297.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000424570.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del	p.SSGSSSGGSSGGSSGGSS273del	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	995_1045	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		273			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	CCDS12463.1																																																																																				0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		11	98						11	98	---	---	---	---	-	36002412	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	36002362	7	5	46	1	0	1	0	1	0	0	0	0	4598	565	20	0	926	0	DMKN	19	36002362	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	TCGA-FB-A78T-01A-12D-A32N-08	1169419	36002362	23126621	151	5556											
MLL4	9757	broad.mit.edu	37	chr19	36221301	36221301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctatgtggacttcgaggGcatcaacttcaagcggaagt	12	8	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:36221301G>A	ENST00000222270.7	+	24	5135	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.G1712D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1712					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GACTTCGAGGGCATCAACTTC	0.557																																						ENST00000420124.1																			0											c.(5134-5136)gGc>gAc									277	290	285					19																	36221301		2090	4218	6308	SO:0001583	missense	0							g.chr19:36221301G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5135G>A	19.37:g.36221301G>A	ENSP00000222270:p.Gly1712Asp					WBP7_ENST00000222270.7_Missense_Mutation_p.G1712D|KMT2B_ENST00000607650.1_RNA	p.G1712D							24	5135	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5135G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818990	0.71028	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85556	-2.0;-2.0	5.42	5.42	0.78866	.	0.000000	0.45867	D	0.000337	D	0.89996	0.6877	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89140	0.3516	10	0.41790	T	0.15	.	17.9877	0.89159	0.0:0.0:1.0:0.0	.	1712	Q9UMN6	MLL4_HUMAN	D	1712	ENSP00000222270:G1712D;ENSP00000398837:G1712D	ENSP00000222270:G1712D	G	+	2	0	AD000671.1	40913141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.762000	0.98944	2.551000	0.86045	0.563000	0.77884	GGC		0.557	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		8	1527	0	0	0	1	0	8	1527					A	36221301	G	A	36221301	3	1	46	1	0	0	0	0	1	0	0	0	9664	1203	42	2	5229	2	MLL4	19	36221301	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	218939	36221301	22907682	152	5557											
ZNF585A	199704	broad.mit.edu	37	chr19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgaaggctttcccacattCgtggcattcatactgtctct	8	11	2	1	rs572122130		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	0.403																																						ENST00000356958.4																			1	Substitution - Missense(1)	p.E499K(1)	breast(1)	breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1660-1662)Gaa>Aaa		zinc finger protein 585A							60	61	61					19																	37643141		2203	4297	6500	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643141C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1660G>A	19.37:g.37643141C>T	ENSP00000349440:p.Glu554Lys					ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K	p.E554K			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1918	-			554					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1660G>A		.	.	.	.	.	.	.	.	.	.	C	14.73	2.624049	0.46840	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.07327	3.2;3.2;3.2	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198022	0.24828	N	0.035278	T	0.19886	0.0478	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.01729	-1.1286	9	0.62326	D	0.03	.	12.9943	0.58638	0.0:1.0:0.0:0.0	.	554	Q6P3V2	Z585A_HUMAN	K	554;499;499	ENSP00000349440:E554K;ENSP00000292841:E499K;ENSP00000375998:E499K	ENSP00000292841:E499K	E	-	1	0	ZNF585A	42334981	0.000000	0.05858	0.499000	0.27577	0.833000	0.47200	0.153000	0.16323	1.621000	0.50320	0.650000	0.86243	GAA		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		84	245	0	0	0	1	0	84	245					T	37643141	C	T	37643141	3	4	46	1	0	0	0	0	1	0	0	0	18070	893	31	1	653	1	ZNF585A	19	37643141	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1421840	37643141	21485842	153	5558											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000407800.2_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97	84	88					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		7	670	0	0	0	1	0	7	670					A	39421234	G	A	39421234	3	1	46	1	0	0	0	0	1	0	0	0	13895	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1778093	39421234	19707749	154	5559											
ZNF546	339327	broad.mit.edu	37	chr19	40520557	40520557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaacttactcggcatcaTagaactcatactggtgagaa	9	9	2	2	rs201944442		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:40520557T>C	ENST00000347077.4	+	7	1596	c.1380T>C	c.(1378-1380)caT>caC	p.H460H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.H434H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCGGCATCATAGAACTCATA	0.413																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1378-1380)caT>caC		zinc finger protein 546							72	75	74					19																	40520557		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520557T>C	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1380T>C	19.37:g.40520557T>C						ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.H434H	p.H460H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1596	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		460					A8K913	Silent	SNP	ENST00000347077.4	37	c.1380T>C	CCDS12548.1																																																																																				0.413	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		96	254	0	0	0	1	0	96	254					C	40520557	T	C	40520557	2	2	46	1	0	0	0	0	0	0	0	1	18031	1403	49	4		4	ZNF546	19	40520557	Silent	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	1099323	40520557	18608426	155	5560											
GSK3A	2931	broad.mit.edu	37	chr19	42740804	42740804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggccttggtgaagtggCgggccacccggtacactgtc	14	12	0	1	rs374117558		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:42740804C>T	ENST00000222330.3	-	4	747	c.620G>A	c.(619-621)cGc>cAc	p.R207H	GSK3A_ENST00000398249.4_Missense_Mutation_p.R125H|AC006486.9_ENST00000594664.1_Missense_Mutation_p.R120H	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGTGAAGTGGCGGGCCACCCG	0.582																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(373-375)cGc>cAc		glycogen synthase kinase 3 alpha		C	HIS/ARG	0,4406		0,0,2203	102	99	100		620	3.9	1	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSK3A	NM_019884.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/484	42740804	1,13005	2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42740804C>T		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.620G>A	19.37:g.42740804C>T	ENSP00000222330:p.Arg207His					GSK3A_ENST00000222330.3_Missense_Mutation_p.R207H|AC006486.9_ENST00000594664.1_Missense_Mutation_p.R120H	p.R125H			P49840	GSK3A_HUMAN			3	2087	-		Prostate(69;0.00682)	207			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.374G>A	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988780	0.74589	0.0	1.16E-4	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.66460	-0.21;-0.21	4.94	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.121398	0.56097	N	0.000034	T	0.65375	0.2685	L	0.45581	1.43	0.80722	D	1	D;P	0.56287	0.975;0.931	P;B	0.48400	0.576;0.436	T	0.69359	-0.5166	10	0.87932	D	0	-7.4556	12.2734	0.54719	0.0:0.9157:0.0:0.0843	.	207;125	P49840;A8MT37	GSK3A_HUMAN;.	H	207;125;152	ENSP00000222330:R207H;ENSP00000381301:R125H	ENSP00000222330:R207H	R	-	2	0	GSK3A	47432644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.137000	0.77295	1.217000	0.43442	0.591000	0.81541	CGC		0.582	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			6	499	0	0	0	1	0	6	499					T	42740804	C	T	42740804	3	4	46	1	0	0	0	0	1	0	0	0	6853	768	27	1	863	1	GSK3A	19	42740804	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2220247	42740804	16388179	156	5561											
GYS1	2997	broad.mit.edu	37	chr19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacccataaaaatggccccGcacaaactcctggattcgag	8	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Cgg>Tgg		glycogen synthase 1 (muscle)							99	105	103					19																	49485993		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485993G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.925C>T	19.37:g.49485993G>A	ENSP00000317904:p.Arg309Trp					GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron	p.R309W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	6	1121	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	309					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.925C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		5	621	0	0	0	1	0	5	621					A	49485993	G	A	49485993	3	1	46	1	0	0	0	0	1	0	0	0	6942	1086	38	1	1332	1	GYS1	19	49485993	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6745189	49485993	9642990	157	5562											
MYBPC2	4606	broad.mit.edu	37	chr19	50963351	50963351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgtggggcacgaacgCgctggtggagtggcaggccc	21	9	0	0	rs201756677		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:50963351C>T	ENST00000357701.5	+	24	2897	c.2846C>T	c.(2845-2847)gCg>gTg	p.A949V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	949	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGCACGAACGCGCTGGTGGAG	0.537																																						ENST00000357701.5																			0				breast(1)	1						c.(2845-2847)gCg>gTg		myosin binding protein C, fast type		C	VAL/ALA	0,3962		0,0,1981	26	31	29		2846	3.5	1	19		29	1,8273		0,1,4136	yes	missense	MYBPC2	NM_004533.3	64	0,1,6117	TT,TC,CC		0.0121,0.0,0.0082	benign	949/1142	50963351	1,12235	1981	4137	6118	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50963351C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2846C>T	19.37:g.50963351C>T	ENSP00000350332:p.Ala949Val						p.A949V	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	24	2897	+		all_neural(266;0.057)	949			Fibronectin type-III 3.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2846C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	6.279	0.419576	0.11928	0.0	1.21E-4	ENSG00000086967	ENST00000357701	T	0.54279	0.58	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.191988	0.22737	U	0.056252	T	0.25717	0.0626	N	0.03084	-0.415	0.38226	D	0.940895	B	0.18610	0.029	B	0.19148	0.024	T	0.23013	-1.0200	10	0.02654	T	1	.	14.6643	0.68896	0.0:1.0:0.0:0.0	.	949	Q14324	MYPC2_HUMAN	V	949	ENSP00000350332:A949V	ENSP00000350332:A949V	A	+	2	0	MYBPC2	55655163	0.263000	0.24083	0.991000	0.47740	0.978000	0.69477	0.788000	0.26872	1.894000	0.54839	0.450000	0.29827	GCG		0.537	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	25	0	0	0	1	0	5	25					T	50963351	C	T	50963351	3	4	46	1	0	0	0	0	1	0	0	0	10053	768	27	1	2940	1	MYBPC2	19	50963351	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1477358	50963351	8165632	158	5563											
KLK13	26085	broad.mit.edu	37	chr19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccctcttttgtgccgGcacacaacatgttgtcagtg	9	13	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(610-612)gCc>gTc		kallikrein-related peptidase 13							212	191	198					19																	51561829		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51561829G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.611C>T	19.37:g.51561829G>A	ENSP00000470555:p.Ala204Val					KLK13_ENST00000595547.1_Missense_Mutation_p.A131V|KLK13_ENST00000335422.3_Missense_Mutation_p.A52V	p.A204V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	4	653	-		all_neural(266;0.026)	204			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.611C>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960577	0.53400	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94966	-3.57	4.8	3.77	0.43336	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000229	D	0.96654	0.8908	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	1.0;0.895;0.999	D	0.95529	0.8601	10	0.32370	T	0.25	.	11.0896	0.48108	0.0906:0.0:0.9094:0.0	.	52;131;204	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	V	204;52	ENSP00000334079:A52V	ENSP00000156476:A204V	A	-	2	0	KLK13	56253641	1.000000	0.71417	0.890000	0.34922	0.139000	0.21198	5.936000	0.70153	1.393000	0.46605	-0.136000	0.14681	GCC		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		8	870	0	0	0	1	0	8	870					A	51561829	G	A	51561829	3	1	46	1	0	0	0	0	1	0	0	0	8431	1203	42	2	230	2	KLK13	19	51561829	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	598478	51561829	7567154	159	5564											
HAS1	3036	broad.mit.edu	37	chr19	52220299	52220299	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaaggctacccagtatcGcaggctgcttaggaagctga	12	9	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:52220299G>A	ENST00000222115.1	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	HAS1_ENST00000540069.2_Nonsense_Mutation_p.R283*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	284					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCCAGTATCGCAGGCTGCTT	0.602																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(847-849)Cga>Tga		hyaluronan synthase 1							111	106	108					19																	52220299		2203	4300	6503	SO:0001587	stop_gained	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220299G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.850C>T	19.37:g.52220299G>A	ENSP00000222115:p.Arg284*					HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.R284*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*	p.R283*			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	907	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	284					Q14470|Q9NS49	Nonsense_Mutation	SNP	ENST00000222115.1	37	c.847C>T	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	36	5.695940	0.96802	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	.	.	.	4.08	2.95	0.34219	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9004	9.8479	0.41039	0.0:0.0:0.6878:0.3122	.	.	.	.	X	283;284;141;138	.	ENSP00000222115:R284X	R	-	1	2	HAS1	56912111	0.220000	0.23631	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.014000	0.59158	0.489000	0.48404	CGA		0.602	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		153	391	0	0	0	1	0	153	391					A	52220299	G	A	52220299	4	1	46	1	0	0	0	0	0	1	0	0	6991	1095	38	1	898	1	HAS1	19	52220299	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	658470	52220299	6908684	160	5565											
NCOA6	23054	broad.mit.edu	37	chr20	33345146	33345146	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggagagctgacaggctGctgaaatccctggggaagtg	15	10	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:33345146G>A	ENST00000374796.2	-	8	3975	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	469	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				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)			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						CTGACAGGCTGCTGAAATCCC	0.557																																						ENST00000374796.2																			0				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						c.(1405-1407)Cag>Tag		nuclear receptor coactivator 6							118	121	120					20																	33345146		2203	4300	6503	SO:0001587	stop_gained	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.chr20:33345146G>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.1405C>T	20.37:g.33345146G>A	ENSP00000363929:p.Gln469*					NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*	p.Q469*			Q14686	NCOA6_HUMAN			8	3975	-			469			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.1405C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	55	23.676371	0.99956	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.9148	19.8745	0.96864	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000351894:Q469X	Q	-	1	0	NCOA6	32808807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.229000	0.95273	2.704000	0.92352	0.467000	0.42956	CAG		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		159	434	0	0	0	1	0	159	434					A	33345146	G	A	33345146	4	1	46	1	0	0	0	0	0	1	0	0	10275	1328	46	2	4822	2	NCOA6	20	33345146	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		33345146	29680374	161	5566											
PTPRT	11122	broad.mit.edu	37	chr20	40980846	40980846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggtggtgggtttcaTtccggagcttgaacactttc	12	8	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373187.1	-	10	1639	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373198.4_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	547	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)				GTGGGTTTCATTCCGGAGCTT	0.567																																						ENST00000373198.3																			0				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						c.(1639-1641)aAt>aGt		protein tyrosine phosphatase, receptor type, T							86	92	91					20																	40980846		1962	4144	6106	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.chr20:40980846T>C	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.1640A>G	20.37:g.40980846T>C	ENSP00000362283:p.Asn547Ser					PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S	p.N547S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			10	1875	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	547			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1640A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112398	0.56398	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.093376	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47190	1.495	0.58432	D	0.999992	B;B	0.32893	0.337;0.389	B;B	0.33454	0.102;0.164	T	0.48340	-0.9044	10	0.46703	T	0.11	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	547;547	O14522-1;O14522	.;PTPRT_HUMAN	S	547	ENSP00000362286:N547S;ENSP00000362283:N547S;ENSP00000362289:N547S;ENSP00000348408:N547S;ENSP00000362294:N547S;ENSP00000362280:N547S;ENSP00000362297:N547S	ENSP00000348408:N547S	N	-	2	0	PTPRT	40414260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.310000	0.77875	0.450000	0.29827	AAT		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			114	313	0	0	0	1	0	114	313					C	40980846	T	C	40980846	3	2	46	1	0	0	0	0	1	0	0	0	12862	1493	52	4	2834	4	PTPRT	20	40980846	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	7635700	40980846	22044674	162	5567											
TOX2	84969	broad.mit.edu	37	chr20	42695426	42695426	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgctcacctggcccAtccaaccccaccagcagcgg	9	19	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:42695426A>T	ENST00000358131.5	+	7	1567	c.1359A>T	c.(1357-1359)ccA>ccT	p.P453P	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000423191.2_Silent_p.P429P|TOX2_ENST00000341197.4_Silent_p.P471P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	453	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCCCATCCAACCCCA	0.627																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1357-1359)ccA>ccT		TOX high mobility group box family member 2							131	122	125					20																	42695426		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695426A>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1359A>T	20.37:g.42695426A>T						TOX2_ENST00000435864.2_Silent_p.P349P|TOX2_ENST00000341197.3_Silent_p.P471P|TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000423191.1_Silent_p.P429P	p.P453P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1567	+		Myeloproliferative disorder(115;0.00452)	453			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1359A>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	5.215	0.225183	0.09916	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.78	-11.3	0.00108	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.38329	D	0.943755	.	.	.	.	.	.	D	0.87310	0.2311	5	0.87932	D	0	.	20.2522	0.98409	0.8527:0.0:0.1473:0.0	.	.	.	.	L	78	.	ENSP00000362083:H78L	H	+	2	0	TOX2	42128840	0.071000	0.21146	0.033000	0.17914	0.065000	0.16274	-0.405000	0.07196	-3.008000	0.00273	-2.200000	0.00306	CAT		0.627	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			28	671	0	0	0	1	0	28	671					T	42695426	A	T	42695426	2	4	46	1	0	0	0	0	0	0	0	1	16431	204	8	5		5	TOX2	20	42695426	Silent	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	1714580	42695426	20330094	163	5568											
NFATC2	4773	broad.mit.edu	37	chr20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatcatcggggtatgCgggtccggagggtgggctgg	20	8	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.A59T(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							49	57	54					20																	50140605		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr					NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	NFATC2	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	525	0	0	0	1	0	5	525					T	50140605	C	T	50140605	3	4	46	1	0	0	0	0	1	0	0	0	10404	768	27	1	2686	1	NFATC2	20	50140605	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	7445179	50140605	12884915	164	5569											
MED15	51586	broad.mit.edu	37	chr22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcaacagcagcagttcCagcagcagcagcaggcggcg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	171						8	171	---	---	---	---	-	20918795	CAG	-	20918793	7	5	46	1	0	1	0	1	0	0	0	0	9474	595	21	0	530	0	MED15	22	20918793	In_Frame_Del	DEL	CAG	TCGA-FB-A78T-01A-12D-A32N-08		20918793	30385773	165	5570											
NEFH	4744	broad.mit.edu	37	chr22	29885739	29885739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaggaagaagcaaagTcccctgagaaggccaagtcc	12	10	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr22:29885739T>A	ENST00000310624.6	+	4	2143	c.2110T>A	c.(2110-2112)Tcc>Acc	p.S704T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	710	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGCAAAGTCCCCTGAGAA	0.557																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2110-2112)Tcc>Acc		neurofilament, heavy polypeptide							63	67	66					22																	29885739		2119	4175	6294	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885739T>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2110T>A	22.37:g.29885739T>A	ENSP00000311997:p.Ser704Thr						p.S704T	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2143	+			710			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2110T>A	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0.389	-0.924325	0.02377	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.9	3.86	0.44501	.	0.123548	0.37530	N	0.002045	T	0.80523	0.4639	L	0.58428	1.81	0.28363	N	0.920348	B	0.29085	0.232	B	0.39379	0.298	T	0.74441	-0.3664	10	0.56958	D	0.05	.	4.6285	0.12489	0.17:0.0908:0.0:0.7392	.	710	P12036	NFH_HUMAN	T	704	ENSP00000311997:S704T	ENSP00000311997:S704T	S	+	1	0	NEFH	28215739	0.000000	0.05858	0.611000	0.29010	0.003000	0.03518	-0.696000	0.05104	0.804000	0.34136	-0.378000	0.06908	TCC		0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		5	564	0	0	0	1	0	5	564					A	29885739	T	A	29885739	3	1	46	1	0	0	0	0	1	0	0	0	10356	1667	58	5	2124	5	NEFH	22	29885739	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	8966946	29885739	21418827	166	5571											
PHKA2	5256	broad.mit.edu	37	chrX	18929061	18929061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttagaactttagtcgGcaaagtcatgggaacaactg	11	8	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2155-2157)Ccg>Tcg		phosphorylase kinase, alpha 2 (liver)							120	115	117					X																	18929061		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929061G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser						p.P719S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			20	2820	-	Hepatocellular(33;0.183)		719					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2155C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		0.363	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		5	426	0	0	0	1	0	5	426					A	18929061	G	A	18929061	3	1	46	1	0	0	0	0	1	0	0	0	11886	1203	42	2	1608	2	PHKA2	23	18929061	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		18929061	136341499	167	5572											
MAGEB6	158809	broad.mit.edu	37	chrX	26213152	26213152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtatgaagacgctttgataGatgaggtagagagagcattg	14	3	0	7			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:26213152G>C	ENST00000379034.1	+	2	1338	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	397										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCTTTGATAGATGAGGTAGA	0.502																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1189-1191)Gat>Cat		melanoma antigen family B, 6							120	111	114					X																	26213152		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26213152G>C	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1189G>C	X.37:g.26213152G>C	ENSP00000368320:p.Asp397His						p.D397H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1338	+			397					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1189G>C	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906303	0.33628	.	.	ENSG00000176746	ENST00000379034	T	0.02837	4.14	3.29	2.4	0.29515	.	0.345998	0.25771	U	0.028418	T	0.12347	0.0300	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.02860	-1.1101	10	0.87932	D	0	.	6.0678	0.19873	0.1475:0.0:0.8525:0.0	.	397	Q8N7X4	MAGB6_HUMAN	H	397	ENSP00000368320:D397H	ENSP00000368320:D397H	D	+	1	0	MAGEB6	26123073	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.154000	0.31688	0.742000	0.32697	0.594000	0.82650	GAT		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		184	365	0	0	0	1	0	184	365					C	26213152	G	C	26213152	3	2	46	1	0	0	0	0	1	0	0	0	9220	942	33	5	1191	5	MAGEB6	23	26213152	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7284091	26213152	129057408	168	5573											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	532	0	0	0	1	0	7	532					G	37028425	A	G	37028425	3	3	46	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	10815273	37028425	118242135	169	5574											
DLG3	1741	broad.mit.edu	37	chrX	69672545	69672545	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccgcttcggcctggaGgagggcttcgcagaggtggg	18	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:69672545G>T	ENST00000374360.3	+	7	1378				DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000194900.4_Intron|DLG3_ENST00000542398.1_5'Flank|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374355.3_Missense_Mutation_p.R25M|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCGGCCTGGAGGAGGGCTTCG	0.697																																						ENST00000374355.3																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(73-75)aGg>aTg		discs, large homolog 3 (Drosophila)							25	30	28					X																	69672545		1949	4121	6070	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69672545G>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1145+669G>T	X.37:g.69672545G>T						DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	p.R25M	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN			1	391	+	Renal(35;0.156)		0					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.74G>T	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696495	0.48202	.	.	ENSG00000082458	ENST00000374355	T	0.15718	2.4	3.77	2.89	0.33648	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.80722	D	1	B	0.28713	0.22	B	0.17433	0.018	T	0.20505	-1.0273	7	.	.	.	.	5.645	0.17584	0.1517:0.0:0.8483:0.0	.	25	Q5JUW6	.	M	25	ENSP00000363475:R25M	.	R	+	2	0	DLG3	69589270	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.583000	0.53928	1.875000	0.54330	0.416000	0.27883	AGG		0.697	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		13	130	1	0	6.72482e-11	1	7.25165e-11	13	130					T	69672545	G	T	69672545	1	4	46	0	1	0	0	0	0	0	0	0	4572	1000	35	3		3	DLG3	23	69672545	Intron	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	32644120	69672545	85598015	170	5575											
ZDHHC15	158866	broad.mit.edu	37	chrX	74649035	74649036	+	Splice_Site	INS	-	-	A													ccaatgcagttattaaccctINSaaaaaaaaagaaaaactaat							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:74649035_74649036insA	ENST00000373367.3	-	7	713		c.e7-2		ZDHHC15_ENST00000373361.3_Intron|ZDHHC15_ENST00000541184.1_Splice_Site	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15						establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTATTAACCCTAAAAAAAAAGA	0.366													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	3	0.000794702	0.0008	0.0014	3775	,	,		13814	0.0		0.001	False		,,,				2504	0.0					ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.e6-2		zinc finger, DHHC-type containing 15																																				SO:0001630	splice_region_variant	158866					integral to membrane	zinc ion binding	g.chrX:74649035_74649036insA	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.483-2->T	X.37:g.74649044_74649044dupA						ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Intron		NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			6	933	-								B3KVG7|Q3SY30|Q6UWH3	Splice_Site	INS	ENST00000373367.3	37		CCDS14430.1																																																																																				0.366	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	Intron	7	257						7	257	---	---	---	---	A	74649036	-	A	74649035	8	5	46	1	0	1	1	0	0	0	1	0	17658	1536	53	0	552	0	ZDHHC15	23	74649035	Splice_Site	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	4976490	74649035	80621525	171	5576											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		10	1062						10	1062	---	---	---	---	-	100880154	TGA	-	100880152	7	5	46	1	0	1	0	1	0	0	0	0	962	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-FB-A78T-01A-12D-A32N-08	26231117	100880152	54390408	172	5577											
STAG2	10735	broad.mit.edu	37	chrX	123181288	123181288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagacaatatgaagcagAacggaataaaatgattggaa	9	4	0	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:123181288A>C	ENST00000371160.1	+	9	1042	c.752A>C	c.(751-753)gAa>gCa	p.E251A	STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	251					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGAAGCAGAACGGAATAAA	0.338																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(751-753)gAa>gCa		stromal antigen 2							86	84	85					X																	123181288		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123181288A>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.752A>C	X.37:g.123181288A>C	ENSP00000360202:p.Glu251Ala					STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A	p.E251A			Q8N3U4	STAG2_HUMAN			9	1042	+			251					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.752A>C	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756245	0.89843	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.58	5.58	0.84498	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.983	D	0.84849	0.0812	10	0.52906	T	0.07	-8.161	14.6793	0.69004	1.0:0.0:0.0:0.0	.	251;251	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	251;251;182;251;251;251;251	ENSP00000218089:E251A;ENSP00000397265:E251A;ENSP00000346555:E182A;ENSP00000360202:E251A;ENSP00000360199:E251A;ENSP00000360187:E251A;ENSP00000360186:E251A	ENSP00000218089:E251A	E	+	2	0	STAG2	123008969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.335000	0.96500	1.847000	0.53656	0.486000	0.48141	GAA		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		19	372	0	0	0	1	0	19	372					C	123181288	A	C	123181288	3	2	46	1	0	0	0	0	1	0	0	0	15295	246	9	4	778	4	STAG2	23	123181288	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	22301136	123181288	32089272	173	5578											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685938	125685938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtccatccgccacagCgccacagtgccgtcgcggga	13	17	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(652-654)gcG>gcA		DDB1 and CUL4 associated factor 12-like 1							32	34	33					X																	125685938		2201	4296	6497	SO:0001819	synonymous_variant	139170							g.chrX:125685938C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.654G>A	X.37:g.125685938C>T							p.A218A	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	896	-			218					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.654G>A	CCDS14610.1																																																																																				0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		82	210	0	0	0	1	0	82	210					T	125685938	C	T	125685938	2	4	46	1	0	0	0	0	0	0	0	1	4275	755	27	1		1	DCAF12L1	23	125685938	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2504650	125685938	29584622	174	5579											
ARHGAP36	158763	broad.mit.edu	37	chrX	130222630	130222630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagccagctgtgccttcCggcactgcccgttcccatga	12	15	0	1	rs375497123		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:130222630C>T	ENST00000276211.5	+	12	1860	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	505					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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						CTGTGCCTTCCGGCACTGCCC	0.542																																						ENST00000276211.5																			0				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						c.(1513-1515)tcC>tcT		Rho GTPase activating protein 36		C		1,3834		0,1,1631,571	51	44	47		1515	-0.8	0.1	X		47	0,6728		0,0,2428,1872	no	coding-synonymous	ARHGAP36	NM_144967.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		505/548	130222630	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130222630C>T		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.1515C>T	X.37:g.130222630C>T						ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	p.S505S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			12	1860	+			505					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.1515C>T	CCDS14628.1																																																																																				0.542	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		42	120	0	0	0	1	0	42	120					T	130222630	C	T	130222630	2	4	46	1	0	0	0	0	0	0	0	1	883	639	23	1		1	ARHGAP36	23	130222630	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4536692	130222630	25047930	175	5580											
GPR112	139378	broad.mit.edu	37	chrX	135487991	135487991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatccagaagactcggcGgaagatgatcctgcatgacc	10	12	0	5			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2932					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.R2932Q(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)					AAGACTCGGCGGAAGATGATC	0.458																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.R2932Q(1)	lung(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						c.(8794-8796)cGg>cAg		G protein-coupled receptor 112							150	131	137					X																	135487991		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487991G>A	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.8795G>A	X.37:g.135487991G>A	ENSP00000377699:p.Arg2932Gln					GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q	p.R2932Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			23	9086	+	Acute lymphoblastic leukemia(192;0.000127)		2932					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8795G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883870	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	-2.74	0.05932	GPCR, family 2-like (1);	.	.	.	.	T	0.28300	0.0699	L	0.39147	1.195	0.09310	N	1	P;B	0.36048	0.534;0.129	B;B	0.33750	0.059;0.169	T	0.13176	-1.0519	9	0.66056	D	0.02	.	13.1032	0.59233	0.6964:0.0:0.3036:0.0	.	2727;2932	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2932;2932;2727;2685;2727	ENSP00000377699:R2932Q;ENSP00000359686:R2932Q;ENSP00000416526:R2727Q;ENSP00000287534:R2685Q;ENSP00000377697:R2727Q	ENSP00000287534:R2685Q	R	+	2	0	GPR112	135315657	0.000000	0.05858	0.001000	0.08648	0.385000	0.30292	-0.544000	0.06077	-0.868000	0.04058	-0.208000	0.12717	CGG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	683	0	0	0	1	0	5	683					A	135487991	G	A	135487991	3	1	46	1	0	0	0	0	1	0	0	0	6658	1116	39	1	8873	1	GPR112	23	135487991	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5265361	135487991	19782569	176	5581											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		14	1948	0	0	0	1	0	14	1948					A	140994960	G	A	140994960	2	1	46	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5506969	140994960	14275600	177	5582											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	317	0	0	0	1	0	6	317					A	150156360	G	A	150156360	2	1	46	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9161400	150156360	5114200	178	5583											
MMEL1	79258	broad.mit.edu	37	chr1	2528091	2528091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtagcccacacattcaCgccagcgcacctcctccacc	6	20	1	1	rs150030274		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:2528091C>T	ENST00000378412.3	-	14	1471	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	MMEL1_ENST00000288709.6_Missense_Mutation_p.R428H|MMEL1_ENST00000502556.1_Missense_Mutation_p.R280H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	437						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACATTCACGCCAGCGCAC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15208	0.001		0.0	False		,,,				2504	0.0					ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1282-1284)cGt>cAt		membrane metallo-endopeptidase-like 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120	101	107		1310	4	1	1	dbSNP_134	107	0,8600		0,0,4300	no	missense	MMEL1	NM_033467.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	437/780	2528091	1,13005	2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2528091C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1310G>A	1.37:g.2528091C>T	ENSP00000367668:p.Arg437His					MMEL1_ENST00000502556.1_Missense_Mutation_p.R280H|MMEL1_ENST00000378412.3_Missense_Mutation_p.R437H	p.R428H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	14	1523	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	437					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1283G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524687	0.64747	2.27E-4	0.0	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83837	-1.77;-1.77;-1.77	4.03	4.03	0.46877	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.91416	0.5155	10	0.62326	D	0.03	-30.2369	14.9001	0.70672	0.0:1.0:0.0:0.0	.	437	Q495T6	MMEL1_HUMAN	H	280;428;437;280	ENSP00000288709:R428H;ENSP00000367668:R437H;ENSP00000422492:R280H	ENSP00000288709:R428H	R	-	2	0	MMEL1	2517951	1.000000	0.71417	0.995000	0.50966	0.094000	0.18550	4.443000	0.59994	2.094000	0.63399	0.491000	0.48974	CGT		0.662	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		12	245	0	0	0	1	0	12	245					T	2528091	C	T	2528091	3	4	47	1	0	0	0	0	1	0	0	0	9687	536	19	1	1073	1	MMEL1	1	2528091	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		2528091	246722530	1	5584											
ACTRT2	140625	broad.mit.edu	37	chr1	2938676	2938676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacctgtcggaccaggcGgtgctggctctctacgcctc	11	15	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:2938676G>A	ENST00000378404.2	+	1	631	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	142						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGACCAGGCGGTGCTGGCTC	0.622																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(424-426)gcG>gcA		actin-related protein T2							67	62	64					1																	2938676		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938676G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.426G>A	1.37:g.2938676G>A							p.A142A	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	631	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	142					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.426G>A	CCDS45.1																																																																																				0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		7	203	0	0	0	1	0	7	203					A	2938676	G	A	2938676	2	1	47	1	0	0	0	0	0	0	0	1	219	1103	39	1		1	ACTRT2	1	2938676	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	410585	2938676	246311945	2	5585											
TP73	7161	broad.mit.edu	37	chr1	3638720	3638720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagcggagcacgtgaccGacgtcgtgaaacgctgcccc	13	13	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:3638720G>A	ENST00000378295.4	+	5	720	c.565G>A	c.(565-567)Gac>Aac	p.D189N	TP73_ENST00000604479.1_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	189	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCACGTGACCGACGTCGTGAA	0.647																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(565-567)Gac>Aac		tumor protein p73							74	67	70					1																	3638720		2201	4297	6498	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3638720G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.565G>A	1.37:g.3638720G>A	ENSP00000367545:p.Asp189Asn					TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000604479.1_Missense_Mutation_p.D189N	p.D189N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	5	720	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	189			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.565G>A	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259548	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.108958	0.64402	D	0.000010	D	0.98745	0.9578	L	0.58810	1.83	0.40527	D	0.980894	P;P;B;B;B;P	0.47034	0.654;0.889;0.424;0.424;0.168;0.479	B;B;B;B;B;B	0.31751	0.054;0.135;0.067;0.067;0.059;0.11	D	0.99087	1.0839	10	0.87932	D	0	-21.6062	13.7221	0.62735	0.0:0.0:1.0:0.0	.	140;140;140;140;189;189	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	N	189;189;189;189;140;140;140;118	ENSP00000367545:D189N;ENSP00000346423:D189N;ENSP00000350366:D189N;ENSP00000340740:D189N;ENSP00000367537:D140N;ENSP00000367534:D140N;ENSP00000367529:D140N;ENSP00000367539:D118N	ENSP00000340740:D189N	D	+	1	0	TP73	3628580	1.000000	0.71417	0.097000	0.21041	0.063000	0.16089	9.354000	0.97083	1.762000	0.52044	0.491000	0.48974	GAC		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		5	155	0	0	0	1	0	5	155					A	3638720	G	A	3638720	3	1	47	1	0	0	0	0	1	0	0	0	16446	1058	37	1	622	1	TP73	1	3638720	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	700044	3638720	245611901	3	5586											
CLSTN1	22883	broad.mit.edu	37	chr1	9803970	9803970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccagtggaactctgcaGgtctgtatttcttctcctca	7	12	5	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:9803970G>A	ENST00000377298.4	-	9	2120	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.P443L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P433L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	443					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAACTCTGCAGGTCTGTATTT	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1327-1329)cCt>cTt		calsyntenin 1							114	125	122					1																	9803970		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9803970G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1328C>T	1.37:g.9803970G>A	ENSP00000366513:p.Pro443Leu					CLSTN1_ENST00000377288.3_Missense_Mutation_p.P443L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P433L	p.P443L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2120	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	443					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1328C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622802	0.87460	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.051638	0.85682	D	0.000000	T	0.16128	0.0388	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.00036	-1.2255	10	0.87932	D	0	-9.4216	20.1041	0.97884	0.0:0.0:1.0:0.0	.	443;433;443	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	L	443;433;263;443;443	ENSP00000366513:P443L;ENSP00000354997:P433L;ENSP00000401934:P263L;ENSP00000366502:P443L	ENSP00000354997:P433L	P	-	2	0	CLSTN1	9726557	1.000000	0.71417	0.966000	0.40874	0.419000	0.31324	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	CCT		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			137	504	0	0	0	1	0	137	504					A	9803970	G	A	9803970	3	1	47	1	0	0	0	0	1	0	0	0	3570	1000	35	2	1661	2	CLSTN1	1	9803970	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	6165250	9803970	239446651	4	5587											
LZIC	84328	broad.mit.edu	37	chr1	9990460	9990460	+	Frame_Shift_Del	DEL	T	T	-													caagcttctgcaccatgtcaTttttttgttttttcaacctc							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:9990460delT	ENST00000377223.1	-	8	817	c.570delA	c.(568-570)aaafs	p.K190fs	LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	190					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CACCATGTCATTTTTTTGTTT	0.333																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(568-570)aafs		leucine zipper and CTNNBIP1 domain containing							203	216	211					1																	9990460		2203	4300	6503	SO:0001589	frameshift_variant	84328						beta-catenin binding	g.chr1:9990460delT	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.570delA	1.37:g.9990460delT	ENSP00000366430:p.Lys190fs					LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs|LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs	p.K190fs			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	8	817	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	190					B2R6F0|B4E2N0|Q96IU1	Frame_Shift_Del	DEL	ENST00000377223.1	37	c.570delA	CCDS107.1																																																																																				0.333	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		7	1427						7	1427	---	---	---	---	-	9990460	T	-	9990460	7	5	47	1	0	1	0	1	0	0	0	0	9174	1490	52	0	6	0	LZIC	1	9990460	Frame_Shift_Del	DEL	T	TCGA-FB-AAPP-01A-12D-A40W-08	186490	9990460	239260161	5	5588											
MASP2	10747	broad.mit.edu	37	chr1	11106647	11106647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctcgaaccccgtgaaCggcttctcgttggagtagtc	12	12	1	1	rs371244593		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:11106647C>T	ENST00000400897.3	-	3	393	c.378G>A	c.(376-378)ccG>ccA	p.P126P	MASP2_ENST00000400898.3_Silent_p.P126P	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		P -> L (in MASPD; dbSNP:rs56392418). {ECO:0000269|PubMed:16029433, ECO:0000269|PubMed:17252003}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACCCCGTGAACGGCTTCTCGT	0.602																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(376-378)ccG>ccA		mannan-binding lectin serine peptidase 2		C	,	0,4406		0,0,2203	52	45	48		378,378	-6.9	0.9	1		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MASP2	NM_006610.3,NM_139208.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	126/687,126/186	11106647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11106647C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.378G>A	1.37:g.11106647C>T						MASP2_ENST00000400898.3_Silent_p.P126P	p.P126P	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	3	393	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	126		P -> L (in dbSNP:rs56392418).	CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.378G>A	CCDS123.1																																																																																				0.602	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		6	162	0	0	0	1	0	6	162					T	11106647	C	T	11106647	2	4	47	1	0	0	0	0	0	0	0	1	9364	523	19	1		1	MASP2	1	11106647	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1116187	11106647	238143974	6	5589											
MTOR	2475	broad.mit.edu	37	chr1	11291104	11291104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctaaaagccctaacacaCggatggcctgcgtgggaaag	11	13	0	0	rs376873727		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:11291104C>T	ENST00000361445.4	-	18	2733	c.2657G>A	c.(2656-2658)cGt>cAt	p.R886H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	886					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCCTAACACACGGATGGCCTG	0.478																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2656-2658)cGt>cAt		mechanistic target of rapamycin (serine/threonine kinase)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	108	108		2657	5.8	1	1		108	0,8600		0,0,4300	no	missense	MTOR	NM_004958.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	886/2550	11291104	1,13005	2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11291104C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2657G>A	1.37:g.11291104C>T	ENSP00000354558:p.Arg886His						p.R886H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			18	2733	-			886					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2657G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388243	0.95988	2.27E-4	0.0	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66280	-0.2	5.84	5.84	0.93424	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84197	0.0448	10	0.87932	D	0	-15.8809	20.1346	0.98019	0.0:1.0:0.0:0.0	.	886	P42345	MTOR_HUMAN	H	886	ENSP00000354558:R886H	ENSP00000354558:R886H	R	-	2	0	MTOR	11213691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.381000	0.79718	2.765000	0.95021	0.655000	0.94253	CGT		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		87	213	0	0	0	1	0	87	213					T	11291104	C	T	11291104	3	4	47	1	0	0	0	0	1	0	0	0	9995	536	19	1	5156	1	MTOR	1	11291104	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	184457	11291104	237959517	7	5590											
PDPN	10630	broad.mit.edu	37	chr1	13910573	13910573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgttttgggaagcgcgtcGctctgggtcctggcagaagg	16	9	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:13910573G>T	ENST00000294489.6	+	1	614	c.273G>T	c.(271-273)tcG>tcT	p.S91S	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Silent_p.S91S					podoplanin									p.S91S(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GAAGCGCGTCGCTCTGGGTCC	0.612																																						ENST00000294489.6																			1	Substitution - coding silent(1)	p.S91S(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(271-273)tcG>tcT		podoplanin							41	31	35					1																	13910573		2194	4272	6466	SO:0001819	synonymous_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13910573G>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.273G>T	1.37:g.13910573G>T						PDPN_ENST00000376057.4_Silent_p.S91S	p.S91S			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	1	614	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	15						Silent	SNP	ENST00000294489.6	37	c.273G>T	CCDS30602.1																																																																																				0.612	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		8	133	1	0	0.0381472	1	0.0382498	8	133					T	13910573	G	T	13910573	2	4	47	1	0	0	0	0	0	0	0	1	11730	1074	38	3		3	PDPN	1	13910573	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2619469	13910573	235340048	8	5591											
PTPRU	10076	broad.mit.edu	37	chr1	29609320	29609320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcactacttcggggcCgaactggcggccagcagtct	14	13	1	0	rs535081694		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:29609320C>T	ENST00000345512.3	+	12	2130	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	PTPRU_ENST00000428026.2_Silent_p.A667A|PTPRU_ENST00000356870.3_Silent_p.A667A|PTPRU_ENST00000460170.2_Silent_p.A667A|PTPRU_ENST00000373779.3_Silent_p.A667A|PTPRU_ENST00000323874.8_Silent_p.A667A|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	667	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTTCGGGGCCGAACTGGCGG	0.657																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1999-2001)gcC>gcT		protein tyrosine phosphatase, receptor type, U							65	64	64					1																	29609320		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609320C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2001C>T	1.37:g.29609320C>T						PTPRU_ENST00000345512.3_Silent_p.A667A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.A667A|PTPRU_ENST00000356870.3_Silent_p.A667A|PTPRU_ENST00000460170.2_Silent_p.A667A|PTPRU_ENST00000428026.2_Silent_p.A667A	p.A667A			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2111	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	667			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2001C>T	CCDS334.1																																																																																				0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			5	302	0	0	0	1	0	5	302					T	29609320	C	T	29609320	2	4	47	1	0	0	0	0	0	0	0	1	12863	639	23	1		1	PTPRU	1	29609320	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	15698747	29609320	219641301	9	5592											
CSMD2	114784	broad.mit.edu	37	chr1	34286094	34286094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccgagcctagtcttttgCccctttcgggtatgccaggg	11	12	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:34286094C>T	ENST00000373381.4	-	8	1351	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	352	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G352D(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)				TAGTCTTTTGCCCCTTTCGGG	0.463																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.G352D(1)	lung(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						c.(1174-1176)gGc>gAc		CUB and Sushi multiple domains 2							191	188	189					1																	34286094		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286094C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1175G>A	1.37:g.34286094C>T	ENSP00000362479:p.Gly392Asp						p.G392D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			8	1351	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	352			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1175G>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.994802	0.93167	.	.	ENSG00000121904	ENST00000373381	T	0.70164	-0.46	5.66	5.66	0.87406	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	H	0.99859	4.855	0.80722	D	1	D;P	0.57571	0.98;0.661	P;B	0.62740	0.906;0.375	D	0.94637	0.7827	10	0.87932	D	0	.	18.7321	0.91739	0.0:1.0:0.0:0.0	.	352;392	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	392	ENSP00000362479:G392D	ENSP00000241312:G352D	G	-	2	0	CSMD2	34058681	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.796000	0.85898	2.669000	0.90835	0.655000	0.94253	GGC		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	721	0	0	0	1	0	7	721					T	34286094	C	T	34286094	3	4	47	1	0	0	0	0	1	0	0	0	3956	739	26	2	9656	2	CSMD2	1	34286094	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	4676774	34286094	214964527	10	5593											
CYP4A22	284541	broad.mit.edu	37	chr1	47614284	47614284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcccaggaactgcatcGggaaacaatttgccatgaac	10	12	0	1	rs554623281		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:47614284G>A	ENST00000371891.3	+	12	1406	c.1375G>A	c.(1375-1377)Ggg>Agg	p.G459R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G361R|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	459						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAACTGCATCGGGAAACAATT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19658	0.0		0.001	False		,,,				2504	0.0				Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1375-1377)Ggg>Agg		cytochrome P450, family 4, subfamily A, polypeptide 22							122	117	119					1																	47614284		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614284G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1375G>A	1.37:g.47614284G>A	ENSP00000360958:p.Gly459Arg					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G361R|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.G459R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			12	1406	+			459					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1375G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	19.30	3.801962	0.70682	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	D;D	0.98849	-5.18;-5.18	1.13	1.13	0.20643	Cytochrome P450, conserved site (1);	0.049731	0.85682	D	0.000000	D	0.99042	0.9672	M	0.90759	3.145	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	D	0.99041	1.0824	10	0.87932	D	0	.	11.2111	0.48799	0.0:0.0:1.0:0.0	.	459	Q5TCH4	CP4AM_HUMAN	R	361;459	ENSP00000360957:G361R;ENSP00000360958:G459R	ENSP00000360957:G361R	G	+	1	0	CYP4A22	47386871	1.000000	0.71417	0.803000	0.32268	0.411000	0.31082	8.590000	0.90821	0.933000	0.37291	0.194000	0.17425	GGG		0.602	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		6	397	0	0	0	1	0	6	397					A	47614284	G	A	47614284	3	1	47	1	0	0	0	0	1	0	0	0	4195	1116	39	1	1421	1	CYP4A22	1	47614284	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	13328190	47614284	201636337	11	5594											
C1orf173	127254	broad.mit.edu	37	chr1	75108727	75108727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaccttaaacctctggattCgctccttcctagctaaggtc	6	13	1	0	rs148337951	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:75108727C>T	ENST00000326665.5	-	4	517	c.299G>A	c.(298-300)cGa>cAa	p.R100Q		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		100										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						CCTCTGGATTCGCTCCTTCCT	0.323													C|||	9	0.00179712	0.0	0.0086	5008	,	,		17926	0.0		0.003	False		,,,				2504	0.0					ENST00000326665.5																			0				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						c.(298-300)cGa>cAa		chromosome 1 open reading frame 173		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	98	88	91		299	-2.2	0	1	dbSNP_134	91	27,8571	19.8+/-62.0	1,25,4273	yes	missense	C1orf173	NM_001002912.4	43	1,27,6474	TT,TC,CC		0.314,0.0454,0.223	benign	100/1531	75108727	29,12975	2203	4299	6502	SO:0001583	missense	127254							g.chr1:75108727C>T																												ENST00000326665.5:c.299G>A	1.37:g.75108727C>T	ENSP00000322609:p.Arg100Gln						p.R100Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			4	517	-			100					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.299G>A	CCDS30755.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	10.69	1.420091	0.25552	4.54E-4	0.00314	ENSG00000178965	ENST00000326665	T	0.19394	2.15	5.4	-2.25	0.06888	.	.	.	.	.	T	0.07413	0.0187	M	0.64997	1.995	0.50632	D	0.999888	P	0.38642	0.641	B	0.25987	0.065	T	0.23119	-1.0197	9	0.48119	T	0.1	-0.6466	11.073	0.48014	0.0:0.5386:0.0:0.4614	.	100	Q5RHP9	CA173_HUMAN	Q	100	ENSP00000322609:R100Q	ENSP00000322609:R100Q	R	-	2	0	C1orf173	74881315	0.926000	0.31397	0.020000	0.16555	0.371000	0.29859	1.093000	0.30939	-0.662000	0.05338	-0.252000	0.11476	CGA		0.323	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	297	0	0	0	1	0	7	297					T	75108727	C	T	75108727	3	4	47	1	0	0	0	0	1	0	0	0	2021	884	31	1	4337	1	C1orf173	1	75108727	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	27494443	75108727	174141894	12	5595											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779655	76779655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccccttcgaactcacTatggatacataaatgtgaag	10	10	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:76779655T>C	ENST00000328299.3	+	2	332	c.184T>C	c.(184-186)Tat>Cat	p.Y62H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	62					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCGAACTCACTATGGATACAT	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(184-186)Tat>Cat		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							113	103	106					1																	76779655		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779655T>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.184T>C	1.37:g.76779655T>C	ENSP00000329214:p.Tyr62His					ST6GALNAC3_ENST00000464140.1_3'UTR	p.Y62H	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			2	332	+			62					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.184T>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	T	8.178	0.793122	0.16327	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.29397	1.57	5.12	3.98	0.46160	.	0.392546	0.27266	N	0.020145	T	0.05044	0.0135	N	0.11560	0.145	0.32905	D	0.513777	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.001	T	0.32929	-0.9888	10	0.15499	T	0.54	-33.1485	6.506	0.22196	0.0:0.0818:0.1545:0.7637	.	62;62	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	H	62;62;61	ENSP00000329214:Y62H	ENSP00000329214:Y62H	Y	+	1	0	ST6GALNAC3	76552243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.668000	0.46816	1.922000	0.55676	0.402000	0.26972	TAT		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		8	213	0	0	0	1	0	8	213					C	76779655	T	C	76779655	3	2	47	1	0	0	0	0	1	0	0	0	15277	1522	53	4	190	4	ST6GALNAC3	1	76779655	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	1670928	76779655	172470966	13	5596											
LPHN2	23266	broad.mit.edu	37	chr1	82408791	82408791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccctggactccctatcGtaccgatactttaatagaat	6	12	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:82408791G>A	ENST00000370728.1	+	8	1181	c.536G>A	c.(535-537)cGt>cAt	p.R179H	LPHN2_ENST00000370725.1_Missense_Mutation_p.R179H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R179H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179H|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179H			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCCCTATCGTACCGATACT	0.393																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(535-537)cGt>cAt		latrophilin 2							74	79	77					1																	82408791		2202	4297	6499	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408791G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.536G>A	1.37:g.82408791G>A	ENSP00000359763:p.Arg179His					LPHN2_ENST00000319517.6_Missense_Mutation_p.R179H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179H|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179H	p.R179H			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1181	+			179			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.536G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.46|19.46	3.831352|3.831352	0.71258|0.71258	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89196|.	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.991;0.993|.	T|T	0.76402|0.76402	-0.2972|-0.2972	10|5	0.87932|.	D|.	0|.	.|.	17.2124|17.2124	0.86934|0.86934	0.0:0.1258:0.8742:0.0|0.0:0.1258:0.8742:0.0	.|.	179;179;179|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	H|I	183;179;179;179;179;179;179;179;179;179;179;179;179;179|47	ENSP00000359756:R183H;ENSP00000359763:R179H;ENSP00000359765:R179H;ENSP00000359762:R179H;ENSP00000359760:R179H;ENSP00000359758:R179H;ENSP00000353006:R179H;ENSP00000359750:R179H;ENSP00000359748:R179H;ENSP00000322270:R179H;ENSP00000359752:R179H;ENSP00000378344:R179H;ENSP00000271029:R179H;ENSP00000337306:R179H|.	ENSP00000271029:R179H|.	R|V	+|+	2|1	0|0	LPHN2|LPHN2	82181379|82181379	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	1.485000|1.485000	0.48380|0.48380	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		69	219	0	0	0	1	0	69	219					A	82408791	G	A	82408791	3	1	47	1	0	0	0	0	1	0	0	0	8954	1145	40	1	550	1	LPHN2	1	82408791	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5629136	82408791	166841830	14	5597											
LPPR5	163404	broad.mit.edu	37	chr1	99418649	99418649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatacatagctgcatagaCactgagagctgcttctttgg	10	9	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:99418649C>G	ENST00000263177.4	-	3	819	c.598G>C	c.(598-600)Gtc>Ctc	p.V200L	LPPR5_ENST00000370188.3_Missense_Mutation_p.V200L	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		200						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GCTGCATAGACACTGAGAGCT	0.388																																						ENST00000370188.3																			0											c.(598-600)Gtc>Ctc									117	107	110					1																	99418649		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99418649C>G																												ENST00000263177.4:c.598G>C	1.37:g.99418649C>G	ENSP00000263177:p.Val200Leu					LPPR5_ENST00000263177.4_Missense_Mutation_p.V200L	p.V200L	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			3	958	-			200					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.598G>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964341	0.18583	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.74947	-0.89;-0.89	5.16	5.16	0.70880	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.334286	0.31507	N	0.007527	T	0.42966	0.1226	N	0.25380	0.74	0.36488	D	0.86823	B;B	0.06786	0.0;0.001	B;B	0.12837	0.005;0.008	T	0.31392	-0.9945	10	0.13853	T	0.58	.	11.4555	0.50179	0.0:0.9074:0.0:0.0926	.	200;200	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	L	200	ENSP00000359207:V200L;ENSP00000263177:V200L	ENSP00000263177:V200L	V	-	1	0	AL161744.1	99191237	0.024000	0.19004	1.000000	0.80357	0.982000	0.71751	0.342000	0.19926	2.563000	0.86464	0.655000	0.94253	GTC		0.388	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			9	213	0	0	0	1	0	9	213					G	99418649	C	G	99418649	3	3	47	1	0	0	0	0	1	0	0	0	8966	478	17	5	383	5	LPPR5	1	99418649	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	17009858	99418649	149831972	15	5598											
LPPR4	9890	broad.mit.edu	37	chr1	99771763	99771763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatggagaccaccatggtCctggcaatcagtacctcaaa	9	11	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:99771763C>T	ENST00000370185.3	+	7	1986	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LPPR4_ENST00000457765.1_Missense_Mutation_p.P439S|LPPR4_ENST00000370184.1_Missense_Mutation_p.P339S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		497					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCACCATGGTCCTGGCAATCA	0.562																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1489-1491)Cct>Tct									152	153	153					1																	99771763		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771763C>T																												ENST00000370185.3:c.1489C>T	1.37:g.99771763C>T	ENSP00000359204:p.Pro497Ser					LPPR4_ENST00000457765.1_Missense_Mutation_p.P439S|LPPR4_ENST00000370184.1_Missense_Mutation_p.P339S	p.P497S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1986	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	497					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1489C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448634	0.26074	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.23754	2.45;2.41;1.89	5.7	5.7	0.88788	.	0.165318	0.56097	D	0.000039	T	0.34048	0.0884	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.63046	0.975;0.992	P;P	0.61477	0.796;0.889	T	0.00819	-1.1553	9	.	.	.	-20.1204	19.8311	0.96636	0.0:1.0:0.0:0.0	.	439;497	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	497;439;497;339	ENSP00000359204:P497S;ENSP00000394913:P439S;ENSP00000359203:P339S	.	P	+	1	0	RP4-788L13.1	99544351	0.993000	0.37304	0.442000	0.26870	0.082000	0.17680	3.465000	0.53064	2.681000	0.91329	0.650000	0.86243	CCT		0.562	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			13	624	0	0	0	1	0	13	624					T	99771763	C	T	99771763	3	4	47	1	0	0	0	0	1	0	0	0	8965	855	30	2	1515	2	LPPR4	1	99771763	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	353114	99771763	149478858	16	5599											
VCAM1	7412	broad.mit.edu	37	chr1	101194865	101194865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtgagttttgagaaCgaacactcttatctgtgcac	9	10	2	2	rs372051353		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:101194865C>T	ENST00000294728.2	+	5	1232	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	377	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTTTGAGAACGAACACTCTT	0.493																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1129-1131)aaC>aaT		vascular cell adhesion molecule 1	Carvedilol(DB01136)	C	,,	0,4406		0,0,2203	115	120	118		1131,945,	-6.6	0.1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	377/740,315/678,	101194865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194865C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1131C>T	1.37:g.101194865C>T						VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	p.N377N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1232	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	377			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1131C>T	CCDS773.1																																																																																				0.493	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		41	447	0	0	0	1	0	41	447					T	101194865	C	T	101194865	2	4	47	1	0	0	0	0	0	0	0	1	17191	535	19	1		1	VCAM1	1	101194865	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1423102	101194865	148055756	17	5600											
LRIG2	9860	broad.mit.edu	37	chr1	113637053	113637053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaaagttaaaccgtaaccGaatgagcatgattccaccta	8	9	0	2	rs368325211		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:113637053G>A	ENST00000361127.5	+	5	806	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	203					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACCGTAACCGAATGAGCATG	0.358																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(607-609)cGa>cAa		leucine-rich repeats and immunoglobulin-like domains 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	115	106	109		608	4.7	1	1		109	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	203/1066	113637053	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113637053G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.608G>A	1.37:g.113637053G>A	ENSP00000355396:p.Arg203Gln						p.R203Q	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	806	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	203					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.608G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112650	0.94339	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.23950	1.88	5.65	4.74	0.60224	.	0.050962	0.85682	D	0.000000	T	0.11495	0.0280	N	0.25426	0.745	0.53688	D	0.999973	P	0.43431	0.807	B	0.41412	0.356	T	0.03139	-1.1068	10	0.44086	T	0.13	.	14.7887	0.69824	0.0694:0.0:0.9306:0.0	.	203	O94898	LRIG2_HUMAN	Q	203	ENSP00000355396:R203Q	ENSP00000355396:R203Q	R	+	2	0	LRIG2	113438576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.684000	0.74538	1.518000	0.48934	0.650000	0.86243	CGA		0.358	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		6	463	0	0	0	1	0	6	463					A	113637053	G	A	113637053	3	1	47	1	0	0	0	0	1	0	0	0	8983	1058	37	1	626	1	LRIG2	1	113637053	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	12442188	113637053	135613568	18	5601											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttgcaggactcactggGtagatggtattcgactcctt	11	9	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		6	775	0	0	0	1	0	6	775					A	144825409	G	A	144825409	3	1	47	1	0	0	0	0	1	0	0	0	10241	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	31188356	144825409	104425212	19	5602											
KPRP	448834	broad.mit.edu	37	chr1	152733041	152733041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacgtggccccaagtgccGaatcgagatttcctccccgt	11	14	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:152733041G>A	ENST00000606109.1	+	1	1005	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R326Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	326	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R326Q(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAGTGCCGAATCGAGATT	0.617																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.R326Q(1)	endometrium(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(976-978)cGa>cAa		keratinocyte proline-rich protein							44	44	44					1																	152733041		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733041G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.977G>A	1.37:g.152733041G>A	ENSP00000475216:p.Arg326Gln					KPRP_ENST00000606109.1_Missense_Mutation_p.R326Q	p.R326Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1035	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		326			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.977G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936296	0.73442	.	.	ENSG00000203786	ENST00000368773	T	0.14266	2.52	5.3	5.3	0.74995	.	0.000000	0.42053	D	0.000773	T	0.18383	0.0441	L	0.34521	1.04	0.35006	D	0.756441	D	0.89917	1.0	D	0.87578	0.998	T	0.01146	-1.1437	10	0.72032	D	0.01	-14.6578	14.8021	0.69924	0.0:0.0:1.0:0.0	.	326	Q5T749	KPRP_HUMAN	Q	326	ENSP00000357762:R326Q	ENSP00000357762:R326Q	R	+	2	0	KPRP	150999665	0.952000	0.32445	0.869000	0.34112	0.262000	0.26303	3.920000	0.56446	2.646000	0.89796	0.462000	0.41574	CGA		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		8	231	0	0	0	1	0	8	231					A	152733041	G	A	152733041	3	1	47	1	0	0	0	0	1	0	0	0	8466	1058	37	1	979	1	KPRP	1	152733041	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7907632	152733041	96517580	20	5603											
UBAP2L	9898	broad.mit.edu	37	chr1	154224030	154224036	+	Frame_Shift_Del	DEL	AGTTTGG	AGTTTGG	-													cctgcagtttggggcattgcAgtttgggtcagagcctgtcc							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:154224030_154224036delAGTTTGG	ENST00000361546.2	+	13	1607_1613	c.1565_1571delAGTTTGG	c.(1564-1572)cagtttgggfs	p.QFG522fs	UBAP2L_ENST00000428931.1_Frame_Shift_Del_p.QFG522fs|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.QFG533fs			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	522					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGCATTGCAGTTTGGGTCAGAGCCT	0.531																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1564-1572)cgfs		ubiquitin associated protein 2-like																																				SO:0001589	frameshift_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154224030_154224036delAGTTTGG	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1565_1571delAGTTTGG	1.37:g.154224030_154224036delAGTTTGG	ENSP00000355343:p.Gln522fs					UBAP2L_ENST00000361546.2_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.QFG533fs	p.QFG522fs	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		14	1732_1738	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		522					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Frame_Shift_Del	DEL	ENST00000361546.2	37	c.1565_1571delAGTTTGG	CCDS1063.1																																																																																				0.531	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		29	769						29	769	---	---	---	---	-	154224036	AGTTTGG	-	154224030	7	5	47	1	0	1	0	1	0	0	0	0	16892	188	7	0	1615	0	UBAP2L	1	154224030	Frame_Shift_Del	DEL	AGTTTGG	TCGA-FB-AAPP-01A-12D-A40W-08	1490989	154224030	95026591	21	5604											
GON4L	54856	broad.mit.edu	37	chr1	155774905	155774905	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatcttagaacgcgttcGaaatgcaatgagactgtcat	11	8	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:155774905G>A	ENST00000368331.1	-	11	1528	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	494					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACGCGTTCGAAATGCAATG	0.468																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1480-1482)Cga>Tga		gon-4-like (C. elegans)							102	92	96					1																	155774905		2203	4300	6503	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155774905G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1480C>T	1.37:g.155774905G>A	ENSP00000357315:p.Arg494*					GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494*	p.R494*			Q3T8J9	GON4L_HUMAN			11	1602	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		494					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.1480C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.425947	0.98275	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.93	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0314	0.58845	0.0:0.0:0.7089:0.2911	.	.	.	.	X	494	.	ENSP00000271883:R494X	R	-	1	2	GON4L	154041529	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	2.846000	0.48262	1.263000	0.44181	0.467000	0.42956	CGA		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		12	352	0	0	0	1	0	12	352					A	155774905	G	A	155774905	4	1	47	1	0	0	0	0	0	1	0	0	6601	1066	37	1	5447	1	GON4L	1	155774905	Nonsense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1550875	155774905	93475716	22	5605											
OR6K3	391114	broad.mit.edu	37	chr1	158687397	158687397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatggatttggttgggcCcacagaaaggcagtgtggaa	15	6	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:158687397C>T	ENST00000368146.1	-	1	556	c.557G>A	c.(556-558)gGg>gAg	p.G186E	OR6K3_ENST00000368145.1_Missense_Mutation_p.G170E			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTGGTTGGGCCCACAGAAAGG	0.517																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(556-558)gGg>gAg		olfactory receptor, family 6, subfamily K, member 3							133	129	130					1																	158687397		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687397C>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.557G>A	1.37:g.158687397C>T	ENSP00000357128:p.Gly186Glu					OR6K3_ENST00000368145.1_Missense_Mutation_p.G170E	p.G186E			Q8NGY3	OR6K3_HUMAN			1	556	-	all_hematologic(112;0.0378)		186					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.557G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908391	0.52333	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.38887	1.11;1.11	3.92	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50360	0.1611	M	0.82923	2.615	0.26748	N	0.970267	D	0.76494	0.999	D	0.83275	0.996	T	0.39313	-0.9620	9	0.87932	D	0	.	6.9059	0.24309	0.0:0.7229:0.1769:0.1002	.	186	Q8NGY3	OR6K3_HUMAN	E	170;186	ENSP00000357127:G170E;ENSP00000357128:G186E	ENSP00000357127:G170E	G	-	2	0	OR6K3	156954021	0.000000	0.05858	0.770000	0.31555	0.908000	0.53690	-0.035000	0.12205	0.980000	0.38523	0.411000	0.27672	GGG		0.517	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				18	367	0	0	0	1	0	18	367					T	158687397	C	T	158687397	3	4	47	1	0	0	0	0	1	0	0	0	11245	623	22	2	440	2	OR6K3	1	158687397	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	2912492	158687397	90563224	23	5606											
CADM3	57863	broad.mit.edu	37	chr1	159163298	159163299	+	Frame_Shift_Ins	INS	-	-	AGCA													taaactgtcagtcttctgggINSagcaagcctgcagcccggct							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:159163298_159163299insAGCA	ENST00000368125.4	+	4	625_626	c.468_469insAGCA	c.(469-471)agcfs	p.-158fs	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Frame_Shift_Ins_p.-192fs	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						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)			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)					AGTCTTCTGGGAGCAAGCCTGC	0.52																																						ENST00000368125.4																			0				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						c.(466-471)gggcaafs		cell adhesion molecule 3																																				SO:0001589	frameshift_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163298_159163299insAGCA	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.469_472dupAGCA	1.37:g.159163299_159163302dupAGCA	ENSP00000357107:p.Lys158fs					CADM3_ENST00000368124.4_Frame_Shift_Ins_p.Q191fs	p.Q157fs	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	625_626	+	all_hematologic(112;0.0429)		157			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Frame_Shift_Ins	INS	ENST00000368125.4	37	c.468_469insAGCA	CCDS44251.1																																																																																				0.52	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		7	291						7	291	---	---	---	---	AGCA	159163299	-	AGCA	159163298	7	5	47	1	0	1	1	0	0	0	0	0	2575	1161	41	0	588	0	CADM3	1	159163298	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	475901	159163298	90087323	24	5607											
TNR	7143	broad.mit.edu	37	chr1	175293512	175293512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtgcctggactcccCgtacttcccattgaggttgg	11	13	0	2	rs565736776		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:175293512C>T	ENST00000367674.2	-	22	4645	c.3937G>A	c.(3937-3939)Ggg>Agg	p.G1313R	TNR_ENST00000263525.2_Missense_Mutation_p.G1313R|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)				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)					CTGGACTCCCCGTACTTCCCA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.001					ENST00000367674.1																			0				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						c.(3937-3939)Ggg>Agg		tenascin R							192	140	158					1																	175293512		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175293512C>T	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.3937G>A	1.37:g.175293512C>T	ENSP00000356646:p.Gly1313Arg					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1313R	p.G1313R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			22	4645	-	Renal(580;0.146)		1313			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3937G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471335	0.96274	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.055436	0.64402	D	0.000001	D	0.89986	0.6874	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90506	0.4477	10	0.87932	D	0	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	1313	Q92752	TENR_HUMAN	R	1313;1313;1223	ENSP00000356646:G1313R;ENSP00000263525:G1313R	ENSP00000263525:G1313R	G	-	1	0	TNR	173560135	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	GGG		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	112	0	0	0	1	0	19	112					T	175293512	C	T	175293512	3	4	47	1	0	0	0	0	1	0	0	0	16390	652	23	1	147	1	TNR	1	175293512	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	16130214	175293512	73957109	25	5608											
FAM129A	116496	broad.mit.edu	37	chr1	184772798	184772798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcttgaaatatcttctttCggatggtgctgctgtcataa	8	9	4	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:184772798C>T	ENST00000367511.3	-	12	1668	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	492					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R492Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TATCTTCTTTCGGATGGTGCT	0.388																																						ENST00000367511.3																			1	Substitution - Missense(1)	p.R492Q(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1474-1476)cGa>cAa		family with sequence similarity 129, member A							227	203	211					1																	184772798		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184772798C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1475G>A	1.37:g.184772798C>T	ENSP00000356481:p.Arg492Gln					FAM129A_ENST00000487074.1_5'UTR	p.R492Q	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			12	1668	-			492					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1475G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782868	0.90282	.	.	ENSG00000135842	ENST00000367511	T	0.15603	2.41	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.67700	2.07	0.49798	D	0.999821	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.21280	-1.0250	10	0.59425	D	0.04	-25.4805	17.2043	0.86914	0.0:1.0:0.0:0.0	.	23;492	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	Q	492	ENSP00000356481:R492Q	ENSP00000356481:R492Q	R	-	2	0	FAM129A	183039421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.433000	0.73404	2.490000	0.84030	0.655000	0.94253	CGA		0.388	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			45	448	0	0	0	1	0	45	448					T	184772798	C	T	184772798	3	4	47	1	0	0	0	0	1	0	0	0	5457	884	31	1	1323	1	FAM129A	1	184772798	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9479286	184772798	64477823	26	5609											
IPO9	55705	broad.mit.edu	37	chr1	201843427	201843427	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggtcaagatcctaaagctGatcatcaacgagctctccaa	7	12	4	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:201843427G>A	ENST00000361565.4	+	21	2829	c.2760G>A	c.(2758-2760)ctG>ctA	p.L920L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	920					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTAAAGCTGATCATCAACG	0.522																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2758-2760)ctG>ctA		importin 9							137	128	131					1																	201843427		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843427G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2760G>A	1.37:g.201843427G>A							p.L920L	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			21	2829	+			920					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.2760G>A	CCDS1415.1																																																																																				0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		15	450	0	0	0	1	0	15	450					A	201843427	G	A	201843427	2	1	47	1	0	0	0	0	0	0	0	1	7829	1277	45	2		2	IPO9	1	201843427	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	17070629	201843427	47407194	27	5610											
ARF1	375	broad.mit.edu	37	chr1	228284870	228284870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttggcaaaaaagaaatgCgcatcctcatggtgggcctg	11	8	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:228284870C>T	ENST00000541182.1	+	2	317	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	ARF1_ENST00000540651.1_Missense_Mutation_p.R19C|ARF1_ENST00000272102.5_Missense_Mutation_p.R19C|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	19					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				AAAAGAAATGCGCATCCTCAT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(55-57)Cgc>Tgc		ADP-ribosylation factor 1							122	103	109					1																	228284870		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284870C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.55C>T	1.37:g.228284870C>T	ENSP00000440005:p.Arg19Cys					ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R19C|ARF1_ENST00000540651.1_Missense_Mutation_p.R19C	p.R19C	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	317	+		Prostate(94;0.0405)	19					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.55C>T	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332131	0.81801	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.83914	-1.78;-1.78;-1.78	5.55	3.59	0.41128	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	D	0.91774	0.7398	H	0.95574	3.69	0.80722	D	1	P;P	0.50617	0.578;0.937	B;P	0.55087	0.126;0.768	D	0.94225	0.7471	10	0.66056	D	0.02	-3.5806	14.8756	0.70491	0.2608:0.7392:0.0:0.0	.	19;19	B4DJC8;P84077	.;ARF1_HUMAN	C	19	ENSP00000272102:R19C;ENSP00000442980:R19C;ENSP00000440005:R19C	ENSP00000272102:R19C	R	+	1	0	ARF1	226351493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.072000	0.50049	1.562000	0.49601	0.591000	0.81541	CGC		0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		5	451	0	0	0	1	0	5	451					T	228284870	C	T	228284870	3	4	47	1	0	0	0	0	1	0	0	0	844	768	27	1	57	1	ARF1	1	228284870	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	26441443	228284870	20965751	28	5611											
OBSCN	84033	broad.mit.edu	37	chr1	228402610	228402610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccctgtcactatcgacGgctacctggtagagaagaag	11	11	1	2	rs368567235		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:228402610G>A	ENST00000422127.1	+	5	1683	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S	OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Missense_Mutation_p.G547S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G547S|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	547	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTATCGACGGCTACCTGGT	0.592																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1639-1641)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	SER/GLY,SER/GLY	0,4090		0,0,2045	56	65	62		1639,1639	4.5	1	1		62	1,8371		0,1,4185	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	0,1,6230	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging	547/7969,547/6621	228402610	1,12461	2045	4186	6231	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402610G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1639G>A	1.37:g.228402610G>A	ENSP00000409493:p.Gly547Ser					OBSCN_ENST00000422127.1_Missense_Mutation_p.G547S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G547S	p.G547S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			5	1713	+		Prostate(94;0.0405)	547			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.1639G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184498	0.57800	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.35973	1.28;1.28	5.51	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.58907	-0.7553	10	0.07325	T	0.83	.	15.7869	0.78310	0.0:0.1363:0.8637:0.0	.	547;547	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	547	ENSP00000284548:G547S;ENSP00000409493:G547S	ENSP00000284548:G547S	G	+	1	0	OBSCN	226469233	1.000000	0.71417	0.958000	0.39756	0.106000	0.19336	5.558000	0.67319	2.595000	0.87683	0.655000	0.94253	GGC		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	130	0	0	0	1	0	4	130					A	228402610	G	A	228402610	3	1	47	1	0	0	0	0	1	0	0	0	10854	1116	39	1	1653	1	OBSCN	1	228402610	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	117740	228402610	20848011	29	5612											
TRIM67	440730	broad.mit.edu	37	chr1	231337128	231337128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctctgatcaagcgcGtccaggtgtctcaggagcag	13	11	3	2	rs530421369		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:231337128G>A	ENST00000366653.5	+	5	1399	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	TRIM67_ENST00000444294.3_Missense_Mutation_p.V467I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V405I|TRIM67_ENST00000366652.2_Missense_Mutation_p.V467I			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	467	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GATCAAGCGCGTCCAGGTGTC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0					ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1399-1401)Gtc>Atc		tripartite motif containing 67							38	40	39					1																	231337128		1966	4158	6124	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337128G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1399G>A	1.37:g.231337128G>A	ENSP00000355613:p.Val467Ile					TRIM67_ENST00000366652.2_Missense_Mutation_p.V467I|TRIM67_ENST00000366653.5_Missense_Mutation_p.V467I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V405I	p.V467I	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			5	2257	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	467			COS.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1399G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413838	0.96072	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71817	-0.6;-0.47;-0.56;-0.58	5.41	5.41	0.78517	B-box, C-terminal (1);COS domain (1);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	L	0.52905	1.665	0.80722	D	1	P	0.51933	0.949	P	0.45681	0.49	T	0.68164	-0.5481	10	0.23302	T	0.38	.	19.1865	0.93645	0.0:0.0:1.0:0.0	.	467	Q6ZTA4	TRI67_HUMAN	I	467;467;405;467	ENSP00000412124:V467I;ENSP00000355612:V467I;ENSP00000400163:V405I;ENSP00000355613:V467I	ENSP00000355612:V467I	V	+	1	0	TRIM67	229403751	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.835000	0.99442	2.530000	0.85305	0.555000	0.69702	GTC		0.532	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		50	43	0	0	0	1	0	50	43					A	231337128	G	A	231337128	3	1	47	1	0	0	0	0	1	0	0	0	16593	1145	40	1	1417	1	TRIM67	1	231337128	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2934518	231337128	17913493	30	5613											
RYR2	6262	broad.mit.edu	37	chr1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-													ttcttggacactataacaacTttttttttgccgctcacctt							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					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)			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)			CTATAACAACTTTTTTTTTGC	0.403																																						ENST00000366574.2																			0				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						c.(14209-14211)ttfs		ryanodine receptor 2 (cardiac)							241	211	220					1																	237969494		1888	4108	5996	SO:0001589	frameshift_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.chr1:237969494delT	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.14209delT	1.37:g.237969494delT	ENSP00000355533:p.Phe4739fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	p.F4739fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4739					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14209delT	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	250						7	250	---	---	---	---	-	237969494	T	-	237969494	7	5	47	1	0	1	0	1	0	0	0	0	13819	1609	56	0	14603	0	RYR2	1	237969494	Frame_Shift_Del	DEL	T	TCGA-FB-AAPP-01A-12D-A40W-08	6632366	237969494	11281127	31	5614											
FMN2	56776	broad.mit.edu	37	chr1	240371102	240371102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcccggagcgggcaTaccccctccgcccccacttc	7	23	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:240371102T>C	ENST00000319653.9	+	5	3220	c.2990T>C	c.(2989-2991)aTa>aCa	p.I997T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	997	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAGCGGGCATACCCCCTCCG	0.697																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2989-2991)aTa>aCa		formin 2							6	8	7					1																	240371102		2087	4125	6212	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371102T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2990T>C	1.37:g.240371102T>C	ENSP00000318884:p.Ile997Thr						p.I997T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3220	+	Ovarian(103;0.127)	all_cancers(173;0.013)	997			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2990T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	7.382	0.628915	0.14257	.	.	ENSG00000155816	ENST00000319653	T	0.60672	0.17	3.66	2.52	0.30459	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.57242	0.2040	M	0.80746	2.51	0.18873	N	0.999984	B	0.18968	0.032	B	0.19666	0.026	T	0.50668	-0.8801	8	.	.	.	.	8.8658	0.35284	0.0:0.0912:0.0:0.9088	.	997	Q9NZ56	FMN2_HUMAN	T	997	ENSP00000318884:I997T	.	I	+	2	0	FMN2	238437725	0.011000	0.17503	0.010000	0.14722	0.078000	0.17371	1.947000	0.40293	0.599000	0.29845	0.392000	0.25879	ATA		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		31	88	0	0	0	1	0	31	88					C	240371102	T	C	240371102	3	2	47	1	0	0	0	0	1	0	0	0	5975	1406	49	4	3008	4	FMN2	1	240371102	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	2401608	240371102	8879519	32	5615											
GREB1	9687	broad.mit.edu	37	chr2	11758761	11758761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccttgaccaaggcctgcCgccagccacccattgtcttc	8	18	1	1	rs368329579		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:11758761C>T	ENST00000381486.2	+	22	4060	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1254						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGGCCTGCCGCCAGCCACC	0.672																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3760-3762)Cgc>Tgc		growth regulation by estrogen in breast cancer 1		C	CYS/ARG	0,4306		0,0,2153	28	32	31		3760	2.6	0.7	2		31	1,8489		0,1,4244	no	missense	GREB1	NM_014668.3	180	0,1,6397	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1254/1950	11758761	1,12795	2153	4245	6398	SO:0001583	missense	9687					integral to membrane		g.chr2:11758761C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3760C>T	2.37:g.11758761C>T	ENSP00000370896:p.Arg1254Cys					GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C	p.R1254C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	4060	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1254					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3760C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557381	0.27827	0.0	1.18E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24350	3.18;3.18;1.86	4.65	2.57	0.30868	.	0.511140	0.21884	N	0.067688	T	0.20251	0.0487	L	0.34521	1.04	0.09310	N	0.999998	P	0.51653	0.947	P	0.44990	0.466	T	0.07233	-1.0783	10	0.56958	D	0.05	-60.0247	7.3683	0.26787	0.3947:0.5083:0.0:0.097	.	1254	Q4ZG55	GREB1_HUMAN	C	1254;1254;252	ENSP00000370896:R1254C;ENSP00000234142:R1254C;ENSP00000379429:R252C	ENSP00000234142:R1254C	R	+	1	0	GREB1	11676212	0.861000	0.29849	0.658000	0.29665	0.046000	0.14306	1.621000	0.36986	0.379000	0.24794	-0.277000	0.10078	CGC		0.672	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		35	71	0	0	0	1	0	35	71					T	11758761	C	T	11758761	3	4	47	1	0	0	0	0	1	0	0	0	6790	652	23	1	3950	1	GREB1	2	11758761	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		11758761	231440612	33	5616											
MATN3	4148	broad.mit.edu	37	chr2	20205753	20205753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgttagaagagggctctCgagcccctgcctccactgtg	13	12	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:20205753C>T	ENST00000407540.3	-	2	604	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.R181Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGGCTCTCGAGCCCCTGC	0.592																																						ENST00000407540.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(541-543)cGa>cAa		matrilin 3							41	44	43					2																	20205753		2020	4191	6211	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205753C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.542G>A	2.37:g.20205753C>T	ENSP00000383894:p.Arg181Gln					MATN3_ENST00000421259.2_Missense_Mutation_p.R181Q	p.R181Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN			2	604	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		181			VWFA.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.542G>A	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766566	0.90020	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.87966	-2.32;-2.32	5.69	5.69	0.88448	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95674	0.8726	10	0.87932	D	0	-14.4146	18.8036	0.92028	0.0:1.0:0.0:0.0	.	181;181	B2CPU0;O15232	.;MATN3_HUMAN	Q	181	ENSP00000383894:R181Q;ENSP00000398753:R181Q	ENSP00000383894:R181Q	R	-	2	0	MATN3	20069234	0.999000	0.42202	0.943000	0.38184	0.460000	0.32559	4.933000	0.63484	2.699000	0.92147	0.655000	0.94253	CGA		0.592	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		5	150	0	0	0	1	0	5	150					T	20205753	C	T	20205753	3	4	47	1	0	0	0	0	1	0	0	0	9376	884	31	1	946	1	MATN3	2	20205753	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8446992	20205753	222993620	34	5617											
APOB	338	broad.mit.edu	37	chr2	21250863	21250863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagagttgatagttcCgagagaattttctgaagtcc	10	5	1	4	rs202001155		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:21250863C>T	ENST00000233242.1	-	14	2031	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q	APOB_ENST00000399256.4_Missense_Mutation_p.R635Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	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)			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)					TTGATAGTTCCGAGAGAATTT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		19882	0.001		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				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						c.(1903-1905)cGg>cAg		apolipoprotein B	Atorvastatin(DB01076)						120	124	122					2																	21250863		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.chr2:21250863C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1904G>A	2.37:g.21250863C>T	ENSP00000233242:p.Arg635Gln					APOB_ENST00000399256.4_Missense_Mutation_p.R635Q	p.R635Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			14	2031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1904G>A	CCDS1703.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.13	3.311138	0.60414	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.21932	1.98;1.98	5.85	4.03	0.46877	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.17746	0.0426	L	0.52266	1.64	0.34132	D	0.665424	B	0.33000	0.393	B	0.28305	0.088	T	0.24799	-1.0150	10	0.42905	T	0.14	.	9.4808	0.38900	0.0:0.7285:0.0:0.2715	.	635	P04114	APOB_HUMAN	Q	635	ENSP00000233242:R635Q;ENSP00000382200:R635Q	ENSP00000233242:R635Q	R	-	2	0	APOB	21104368	0.262000	0.24073	1.000000	0.80357	0.696000	0.40369	0.273000	0.18662	1.627000	0.50400	0.655000	0.94253	CGG		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			119	437	0	0	0	1	0	119	437					T	21250863	C	T	21250863	3	4	47	1	0	0	0	0	1	0	0	0	785	652	23	1	11851	1	APOB	2	21250863	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1045110	21250863	221948510	35	5618											
SF3B14	9540	broad.mit.edu	37	chr2	24299094	24299094	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctcttggccgcttgcatCgccatcttggcgggctgatg	13	14	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:24299094C>T	ENST00000238721.4	-	0	1998				SF3B14_ENST00000233468.4_Silent_p.A2A	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3						NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTTGCATCGCCATCTTGG	0.567																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(4-6)gcG>gcA									140	128	132					2																	24299094		2203	4300	6503	SO:0001628	intergenic_variant	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24299094C>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817		2.37:g.24299094C>T							p.A2A	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			1	219	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	ENST00000238721.4	37	c.6G>A	CCDS1708.1																																																																																				0.567	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		173	337	0	0	0	1	0	173	337					T	24299094	C	T	24299094	1	4	47	0	1	0	0	0	0	0	0	0	14200	871	31	1		1	SF3B14	2	24299094	IGR	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3048231	24299094	218900279	36	5619											
ATL2	64225	broad.mit.edu	37	chr2	38536594	38536594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaccaaattttcagggGcaagcagcaatggaaccaga	9	9	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:38536594G>A	ENST00000378954.4	-	9	999	c.998C>T	c.(997-999)gCc>gTc	p.A333V	ATL2_ENST00000452935.2_Missense_Mutation_p.A315V|ATL2_ENST00000332337.4_Missense_Mutation_p.A315V|ATL2_ENST00000406122.1_Missense_Mutation_p.A162V|ATL2_ENST00000419554.2_Missense_Mutation_p.A333V|ATL2_ENST00000402054.1_Missense_Mutation_p.A162V|ATL2_ENST00000546051.1_Missense_Mutation_p.A162V|ATL2_ENST00000539122.1_Missense_Mutation_p.A162V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	333	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTTTCAGGGGCAAGCAGCAA	0.333																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(997-999)gCc>gTc		atlastin GTPase 2							90	90	90					2																	38536594		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38536594G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.998C>T	2.37:g.38536594G>A	ENSP00000368237:p.Ala333Val					ATL2_ENST00000546051.1_Missense_Mutation_p.A162V|ATL2_ENST00000406122.1_Missense_Mutation_p.A162V|ATL2_ENST00000539122.1_Missense_Mutation_p.A162V|ATL2_ENST00000452935.2_Missense_Mutation_p.A315V|ATL2_ENST00000332337.4_Missense_Mutation_p.A315V|ATL2_ENST00000402054.1_Missense_Mutation_p.A162V|ATL2_ENST00000419554.2_Missense_Mutation_p.A333V	p.A333V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			9	999	-			333					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.998C>T	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.378341|5.378341	0.95945|0.95945	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130|ENST00000443098	T;T;T;T;T;T;T;T;T|.	0.75050|.	-0.9;0.08;0.08;0.08;-0.9;-0.9;-0.9;0.08;0.08|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Guanylate-binding protein, N-terminal (1);|.	0.138974|.	0.64402|.	D|.	0.000004|.	D|D	0.83640|0.83640	0.5298|0.5298	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	P;P;P;P;B|.	0.39862|.	0.608;0.459;0.692;0.523;0.293|.	B;P;B;B;P|.	0.45343|.	0.424;0.477;0.345;0.444;0.477|.	D|D	0.83435|0.83435	0.0040|0.0040	10|5	0.72032|.	D|.	0.01|.	-9.2456|-9.2456	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;315;315;333;333|.	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;.;ATLA2_HUMAN|.	V|S	333;162;162;162;315;333;315;162;151|252	ENSP00000368237:A333V;ENSP00000385446:A162V;ENSP00000384062:A162V;ENSP00000446192:A162V;ENSP00000333393:A315V;ENSP00000415336:A333V;ENSP00000390743:A315V;ENSP00000438938:A162V;ENSP00000409811:A151V|.	ENSP00000333393:A315V|.	A|P	-|-	2|1	0|0	ATL2|ATL2	38390098|38390098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.719000|7.719000	0.84751|0.84751	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.333	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		5	388	0	0	0	1	0	5	388					A	38536594	G	A	38536594	3	1	47	1	0	0	0	0	1	0	0	0	1108	1203	42	2	885	2	ATL2	2	38536594	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	14237500	38536594	204662779	37	5620											
EML4	27436	broad.mit.edu	37	chr2	42531673	42531673	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcacagtggtggccaTaggaacgcactcaggcaggt	15	9	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:42531673T>A	ENST00000318522.5	+	17	2211	c.1949T>A	c.(1948-1950)aTa>aAa	p.I650K	EML4_ENST00000402711.2_Missense_Mutation_p.I592K|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.I661K	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	650					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTGGTGGCCATAGGAACGCAC	0.458			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1948-1950)aTa>aAa		echinoderm microtubule associated protein like 4							119	115	116					2																	42531673		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42531673T>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1949T>A	2.37:g.42531673T>A	ENSP00000320663:p.Ile650Lys					EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.I592K|EML4_ENST00000401738.3_Missense_Mutation_p.I661K	p.I650K	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			17	2211	+			650					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1949T>A	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325626	0.81580	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.58060	0.36;0.36;0.36	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.042198	0.85682	D	0.000000	T	0.72179	0.3428	M	0.81341	2.54	0.80722	D	1	D;D;D	0.76494	0.995;0.994;0.999	P;P;D	0.67103	0.737;0.827;0.949	T	0.77400	-0.2602	10	0.87932	D	0	-18.3755	14.5909	0.68365	0.0:0.0:0.0:1.0	.	592;661;650	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	K	650;592;661	ENSP00000320663:I650K;ENSP00000385059:I592K;ENSP00000384939:I661K	ENSP00000320663:I650K	I	+	2	0	EML4	42385177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.037000	0.60232	0.460000	0.39030	ATA		0.458	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		177	241	0	0	0	1	0	177	241					A	42531673	T	A	42531673	3	1	47	1	0	0	0	0	1	0	0	0	5117	1406	49	5	2015	5	EML4	2	42531673	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	3995079	42531673	200667700	38	5621											
SLC3A1	6519	broad.mit.edu	37	chr2	44502859	44502860	+	Frame_Shift_Ins	INS	-	-	C													gagcccgacttcaagggcgtINSccagccctatgcggggatgc							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:44502859_44502860insC	ENST00000260649.6	+	1	261_262	c.185_186insC	c.(184-189)gtccagfs	p.Q63fs	SLC3A1_ENST00000409741.1_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000410056.3_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000409387.1_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000409229.3_Frame_Shift_Ins_p.Q63fs	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	63					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTCAAGGGCGTCCAGCCCTATG	0.614																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(184-186)gcafs		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)																																			SO:0001589	frameshift_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502859_44502860insC		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.187dupC	2.37:g.44502861_44502861dupC	ENSP00000260649:p.Gln63fs					SLC3A1_ENST00000410056.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409229.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409741.1_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409387.1_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	261_262	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	62					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Frame_Shift_Ins	INS	ENST00000260649.6	37	c.185_186insC	CCDS1819.1																																																																																				0.614	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		23	125						23	125	---	---	---	---	C	44502860	-	C	44502859	7	5	47	1	0	1	1	0	0	0	0	0	14676	1667	58	0	187	0	SLC3A1	2	44502859	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	1971186	44502859	198696514	39	5622											
TSPYL6	388951	broad.mit.edu	37	chr2	54482977	54482977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgccgtcagttgtcagCgaggcagaggccgcttctag	15	11	3	1	rs114346583	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:54482977C>T	ENST00000317802.7	-	1	432	c.312G>A	c.(310-312)tcG>tcA	p.S104S	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	104					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CAGTTGTCAGCGAGGCAGAGG	0.622																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(310-312)tcG>tcA		TSPY-like 6							36	40	39					2																	54482977		2053	4183	6236	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54482977C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.312G>A	2.37:g.54482977C>T						ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	p.S104S	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	432	-			104					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.312G>A	CCDS42682.1																																																																																				0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		10	230	0	0	0	1	0	10	230					T	54482977	C	T	54482977	2	4	47	1	0	0	0	0	0	0	0	1	16716	755	27	1		1	TSPYL6	2	54482977	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9980118	54482977	188716396	40	5623											
SPTBN1	6711	broad.mit.edu	37	chr2	54753681	54753681	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgcggctttttgagcgGtcccgcatcaaggctctggc	13	13	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:54753681G>C	ENST00000356805.4	+	2	407	c.126G>C	c.(124-126)cgG>cgC	p.R42R	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	42	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TTTTTGAGCGGTCCCGCATCA	0.537																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(124-126)cgG>cgC		spectrin, beta, non-erythrocytic 1							104	95	98					2																	54753681		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753681G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.126G>C	2.37:g.54753681G>C						AC092839.3_ENST00000433475.1_RNA	p.R42R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	407	+			42			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.126G>C	CCDS33198.1																																																																																				0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			55	214	0	0	0	1	0	55	214					C	54753681	G	C	54753681	2	2	47	1	0	0	0	0	0	0	0	1	15171	1248	44	5		5	SPTBN1	2	54753681	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	270704	54753681	188445692	41	5624											
LOXL3	84695	broad.mit.edu	37	chr2	74763164	74763164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtaggttgcaccggacccCggcatcctggctatgtgaac	13	12	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:74763164C>T	ENST00000264094.3	-	7	1278	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	LOXL3_ENST00000393937.2_Missense_Mutation_p.G258R|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G403R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G258R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	403	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACCGGACCCCGGCATCCTGG	0.562																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1207-1209)Ggg>Agg		lysyl oxidase-like 3							96	94	95					2																	74763164		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763164C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1207G>A	2.37:g.74763164C>T	ENSP00000264094:p.Gly403Arg					LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G403R|LOXL3_ENST00000393937.2_Missense_Mutation_p.G258R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G258R	p.G403R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			7	1278	-			403			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1207G>A	CCDS1953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.88|12.88	2.069595|2.069595	0.36470|0.36470	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986|ENST00000420535	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);|.	0.488804|.	0.21919|.	N|.	0.067182|.	T|T	0.80691|0.80691	0.4671|0.4671	H|H	0.96301|0.96301	3.8|3.8	0.18873|0.18873	N|N	0.999985|0.999985	D;D;P;P|.	0.56968|.	0.978;0.968;0.948;0.504|.	D;D;P;B|.	0.64237|.	0.909;0.923;0.884;0.222|.	T|T	0.76002|0.76002	-0.3118|-0.3118	10|5	0.87932|.	D|.	0|.	.|.	16.3805|16.3805	0.83460|0.83460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	258;403;258;403|.	B9A025;E7END4;Q6IPL7;P58215|.	.;.;.;LOXL3_HUMAN|.	R|Q	403;258;403;258|129	ENSP00000264094:G403R;ENSP00000377512:G258R;ENSP00000386696:G403R;ENSP00000386545:G258R|.	ENSP00000264094:G403R|.	G|R	-|-	1|2	0|0	LOXL3|LOXL3	74616672|74616672	0.073000|0.073000	0.21202|0.21202	0.026000|0.026000	0.17262|0.17262	0.680000|0.680000	0.39746|0.39746	3.592000|3.592000	0.53993|0.53993	2.806000|2.806000	0.96561|0.96561	0.551000|0.551000	0.68910|0.68910	GGG|CGG		0.562	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		11	381	0	0	0	1	0	11	381					T	74763164	C	T	74763164	3	4	47	1	0	0	0	0	1	0	0	0	8939	652	23	1	1086	1	LOXL3	2	74763164	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	20009483	74763164	168436209	42	5625											
REG1A	5967	broad.mit.edu	37	chr2	79348754	79348754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcaccaatgcctatcGctcctactgctactacttta	6	13	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:79348754G>A	ENST00000233735.1	+	3	234	c.131G>A	c.(130-132)cGc>cAc	p.R44H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	44	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R44H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AATGCCTATCGCTCCTACTGC	0.537																																						ENST00000233735.1																			1	Substitution - Missense(1)	p.R44H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(130-132)cGc>cAc		regenerating islet-derived 1 alpha							176	173	174					2																	79348754		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348754G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.131G>A	2.37:g.79348754G>A	ENSP00000233735:p.Arg44His						p.R44H	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	234	+			44			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.131G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335656	0.41398	.	.	ENSG00000115386	ENST00000233735	T	0.08370	3.1	2.85	-1.6	0.08426	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.589271	0.14020	N	0.346859	T	0.07908	0.0198	L	0.58810	1.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	10	0.46703	T	0.11	.	5.4679	0.16654	0.0:0.33:0.3416:0.3284	.	44;44	A8K7G6;P05451	.;REG1A_HUMAN	H	44	ENSP00000233735:R44H	ENSP00000233735:R44H	R	+	2	0	REG1A	79202262	0.000000	0.05858	0.000000	0.03702	0.486000	0.33341	0.229000	0.17833	-0.396000	0.07703	0.563000	0.77884	CGC		0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		27	735	0	0	0	1	0	27	735					A	79348754	G	A	79348754	3	1	47	1	0	0	0	0	1	0	0	0	13260	1087	38	1	137	1	REG1A	2	79348754	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4585590	79348754	163850619	43	5626											
IL1RN	3557	broad.mit.edu	37	chr2	113888640	113888640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagatagatgtggtacCcattgagcctcatgctctgt	10	8	2	4			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:113888640C>T	ENST00000409930.3	+	3	288	c.224C>T	c.(223-225)cCc>cTc	p.P75L	IL1RN_ENST00000361779.3_Missense_Mutation_p.P41L|IL1RN_ENST00000354115.2_Missense_Mutation_p.P57L|IL1RN_ENST00000409052.1_Missense_Mutation_p.P41L|IL1RN_ENST00000259206.5_Missense_Mutation_p.P78L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	75					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	GATGTGGTACCCATTGAGCCT	0.483									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000361779.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(121-123)cCc>cTc		interleukin 1 receptor antagonist	Anakinra(DB00026)						130	114	120					2																	113888640		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113888640C>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.224C>T	2.37:g.113888640C>T	ENSP00000387173:p.Pro75Leu					IL1RN_ENST00000409930.3_Missense_Mutation_p.P75L|IL1RN_ENST00000409052.1_Missense_Mutation_p.P41L|IL1RN_ENST00000259206.5_Missense_Mutation_p.P78L|IL1RN_ENST00000354115.2_Missense_Mutation_p.P57L	p.P41L	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN			5	467	+			75					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.122C>T	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	C	2.483	-0.319312	0.05386	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.26	3.25	0.37280	.	0.537042	0.21904	N	0.067402	T	0.28995	0.0720	M	0.86953	2.85	0.19775	N	0.999956	B;B;B	0.32396	0.012;0.318;0.369	B;B;B	0.42163	0.014;0.378;0.285	T	0.17992	-1.0351	10	0.33141	T	0.24	-28.0286	6.568	0.22523	0.1707:0.7287:0.0:0.1006	.	75;57;78	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	41;41;78;57;75	ENSP00000387210:P41L;ENSP00000354816:P41L;ENSP00000259206:P78L;ENSP00000329072:P57L;ENSP00000387173:P75L	ENSP00000259206:P78L	P	+	2	0	IL1RN	113605111	0.000000	0.05858	0.175000	0.22980	0.111000	0.19643	0.206000	0.17375	0.465000	0.27167	-0.152000	0.13540	CCC		0.483	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		51	235	0	0	0	1	0	51	235					T	113888640	C	T	113888640	3	4	47	1	0	0	0	0	1	0	0	0	7695	623	22	2	315	2	IL1RN	2	113888640	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	34539886	113888640	129310733	44	5627											
PAX8	7849	broad.mit.edu	37	chr2	114002064	114002064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgccctcagccaggagcCggtctcggatctcccaggca	12	16	3	1	rs376820853		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:114002064C>T	ENST00000429538.3	-	4	523	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	PAX8_ENST00000263335.7_Missense_Mutation_p.R110Q|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R110Q|PAX8_ENST00000263334.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	110	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCCAGGAGCCGGTCTCGGAT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(328-330)cGg>cAg		paired box 8		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	152	170	164		329,329,329,329	5.3	1	2		164	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	PAX8	NM_003466.3,NM_013952.3,NM_013953.3,NM_013992.3	43,43,43,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	110/451,110/399,110/322,110/288	114002064	1,12993	2198	4299	6497	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002064C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.329G>A	2.37:g.114002064C>T	ENSP00000395498:p.Arg110Gln					AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R110Q|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R110Q|PAX8_ENST00000263335.7_Missense_Mutation_p.R110Q|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000333145.5_RNA	p.R110Q	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	523	-			110			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.329G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022484	0.93462	0.0	1.16E-4	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95	5.32	5.32	0.75619	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.974	P;D;D;P;P	0.77557	0.62;0.969;0.99;0.75;0.536	D	0.99334	1.0910	10	0.72032	D	0.01	.	16.4863	0.84184	0.0:1.0:0.0:0.0	.	110;110;110;110;110	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	Q	110	ENSP00000263335:R110Q;ENSP00000380768:R110Q;ENSP00000314750:R110Q;ENSP00000395498:R110Q;ENSP00000263334:R110Q	ENSP00000263334:R110Q	R	-	2	0	PAX8	113718534	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.089000	0.71384	2.502000	0.84385	0.655000	0.94253	CGG		0.597	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			11	1010	0	0	0	1	0	11	1010					T	114002064	C	T	114002064	3	4	47	1	0	0	0	0	1	0	0	0	11527	652	23	1	934	1	PAX8	2	114002064	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	113424	114002064	129197309	45	5628											
CCDC74B	91409	broad.mit.edu	37	chr2	130897154	130897154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgagcgatgcaggcgccGtttctgcattgcctgcagcc	12	15	1	0	rs546767071		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:130897154G>A	ENST00000310463.6	-	8	1254	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.R307W|CCDC74B_ENST00000392984.3_Missense_Mutation_p.R475W	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	373										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGCAGGCGCCGTTTCTGCATT	0.602													.|||	1	0.000199681	0.0	0.0014	5008	,	,		16310	0.0		0.0	False		,,,				2504	0.0					ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1423-1425)Cgg>Tgg		coiled-coil domain containing 74B							42	42	42					2																	130897154		2201	4300	6501	SO:0001583	missense	91409							g.chr2:130897154G>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.1117C>T	2.37:g.130897154G>A	ENSP00000308873:p.Arg373Trp					CCDC74B_ENST00000409943.3_Missense_Mutation_p.R307W|CCDC74B_ENST00000310463.6_Missense_Mutation_p.R373W	p.R475W			Q96LY2	CC74B_HUMAN			7	2166	-	Colorectal(110;0.1)		373					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1423C>T	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.304727	0.60305	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.39592	1.07;1.07;1.07	4.16	4.16	0.48862	.	.	.	.	.	T	0.59998	0.2235	M	0.62723	1.935	0.41784	D	0.989835	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.70227	0.968;0.832;0.88	T	0.64698	-0.6346	9	0.72032	D	0.01	.	14.3259	0.66521	0.0:0.0:1.0:0.0	.	475;307;373	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	W	307;373;475	ENSP00000386294:R307W;ENSP00000308873:R373W;ENSP00000376710:R475W	ENSP00000308873:R373W	R	-	1	2	CCDC74B	130613624	0.526000	0.26298	1.000000	0.80357	0.170000	0.22686	0.675000	0.25232	2.316000	0.78162	0.455000	0.32223	CGG		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		5	122	0	0	0	1	0	5	122					A	130897154	G	A	130897154	3	1	47	1	0	0	0	0	1	0	0	0	2855	1144	40	1	29	1	CCDC74B	2	130897154	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	16895090	130897154	112302219	46	5629											
MCM6	4175	broad.mit.edu	37	chr2	136605704	136605704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcaggtgtttccacacGgatgattgatttattcagta	9	7	2	2	rs142938887		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:136605704G>A	ENST00000264156.2	-	14	2032	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	658					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)			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)		GTTTCCACACGGATGATTGAT	0.393																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1972-1974)Cgt>Tgt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	171	140	151		1972	4.6	1	2	dbSNP_134	151	0,8600	1.2+/-3.3	0,0,4300	no	missense	MCM6	NM_005915.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	658/822	136605704	1,13005	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.chr2:136605704G>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.1972C>T	2.37:g.136605704G>A	ENSP00000264156:p.Arg658Cys					MCM6_ENST00000492091.1_5'UTR	p.R658C	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	14	2032	-			658					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1972C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833342	0.71258	2.27E-4	0.0	ENSG00000076003	ENST00000264156	T	0.14022	2.54	5.56	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42816	-0.9429	10	0.66056	D	0.02	-10.875	15.4358	0.75146	0.0:0.0:0.7912:0.2087	.	658	Q14566	MCM6_HUMAN	C	658	ENSP00000264156:R658C	ENSP00000264156:R658C	R	-	1	0	MCM6	136322174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.030000	0.41108	2.604000	0.88044	0.585000	0.79938	CGT		0.393	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		165	151	0	0	0	1	0	165	151					A	136605704	G	A	136605704	3	1	47	1	0	0	0	0	1	0	0	0	9432	1116	39	1	509	1	MCM6	2	136605704	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5708550	136605704	106593669	47	5630											
ARHGAP15	55843	broad.mit.edu	37	chr2	143986187	143986187	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggattgttctttctagtCgaagaattgaattttacaaa	7	6	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:143986187C>T	ENST00000295095.6	+	5	501	c.334C>T	c.(334-336)Cga>Tga	p.R112*	ARHGAP15_ENST00000409869.1_Nonsense_Mutation_p.R112*	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	112	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.R112R(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTTTCTAGTCGAAGAATTGA	0.303																																						ENST00000409869.1																			1	Substitution - coding silent(1)	p.R112R(1)	large_intestine(1)	endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(334-336)Cga>Tga		Rho GTPase activating protein 15							89	95	93					2																	143986187		2203	4298	6501	SO:0001587	stop_gained	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143986187C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.334C>T	2.37:g.143986187C>T	ENSP00000295095:p.Arg112*					ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.R112*	p.R112*			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	6	511	+			112			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Nonsense_Mutation	SNP	ENST00000295095.6	37	c.334C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	37	6.232440	0.97399	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	.	.	.	5.6	1.36	0.22044	.	0.778678	0.12196	N	0.490747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.3393	0.38069	0.2847:0.4628:0.2525:0.0	.	.	.	.	X	112	.	ENSP00000295095:R112X	R	+	1	2	ARHGAP15	143702657	0.026000	0.19158	0.619000	0.29118	0.995000	0.86356	0.224000	0.17738	0.248000	0.21435	0.650000	0.86243	CGA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		11	287	0	0	0	1	0	11	287					T	143986187	C	T	143986187	4	4	47	1	0	0	0	0	0	1	0	0	866	876	31	1	348	1	ARHGAP15	2	143986187	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	7380483	143986187	99213186	48	5631											
NEB	4703	broad.mit.edu	37	chr2	152476229	152476229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgtactgctcgggcGccaatgtggtgacccaactg	12	12	1	1	rs144673752	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:152476229G>A	ENST00000172853.10	-	69	10026	c.9879C>T	c.(9877-9879)ggC>ggT	p.G3293G	NEB_ENST00000409198.1_Silent_p.G3293G|NEB_ENST00000603639.1_Silent_p.G3536G|NEB_ENST00000427231.2_Silent_p.G3536G|NEB_ENST00000397345.3_Silent_p.G3536G|NEB_ENST00000604864.1_Silent_p.G3536G			P20929	NEBU_HUMAN	nebulin	3293					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)			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)		CTGCTCGGGCGCCAATGTGGT	0.438													G|||	4	0.000798722	0.003	0.0	5008	,	,		22280	0.0		0.0	False		,,,				2504	0.0					ENST00000397345.3																			0				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						c.(10606-10608)ggC>ggT		nebulin		G	,,	1,3975		0,1,1987	83	81	82		10608,10608,9879	-10.9	0.5	2	dbSNP_134	82	0,8316		0,0,4158	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6145	AA,AG,GG		0.0,0.0252,0.0081	,,	3536/8526,3536/8526,3293/6670	152476229	1,12291	1988	4158	6146	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152476229G>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.9879C>T	2.37:g.152476229G>A						NEB_ENST00000172853.10_Silent_p.G3293G|NEB_ENST00000604864.1_Silent_p.G3536G|NEB_ENST00000603639.1_Silent_p.G3536G|NEB_ENST00000427231.2_Silent_p.G3536G|NEB_ENST00000409198.1_Silent_p.G3293G	p.G3536G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10810	-			3536					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10608C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	257	0	0	0	1	0	7	257					A	152476229	G	A	152476229	2	1	47	1	0	0	0	0	0	0	0	1	10344	1074	38	1		1	NEB	2	152476229	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	8490042	152476229	90723144	49	5632											
ITGB6	3694	broad.mit.edu	37	chr2	160964285	160964285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagatgcacagtaggaCaaccccgatgagaagaatag	10	10	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:160964285C>T	ENST00000283249.2	-	14	2410	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	ITGB6_ENST00000428609.2_Missense_Mutation_p.V683I|ITGB6_ENST00000409872.1_Missense_Mutation_p.V725I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V618I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	725					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTAGGACAACCCCGATG	0.428																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2173-2175)Gtc>Atc		integrin, beta 6							119	117	118					2																	160964285		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964285C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2173G>A	2.37:g.160964285C>T	ENSP00000283249:p.Val725Ile					ITGB6_ENST00000428609.2_Missense_Mutation_p.V683I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V618I|ITGB6_ENST00000409872.1_Missense_Mutation_p.V725I	p.V725I			P18564	ITB6_HUMAN			14	2410	-			725					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2173G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838636	0.51057	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.89681	-2.4;-2.4;-2.55;-2.4	5.79	5.79	0.91817	.	0.148524	0.49916	D	0.000129	D	0.85575	0.5728	L	0.39397	1.21	0.39302	D	0.964926	B;B	0.12630	0.006;0.002	B;B	0.06405	0.002;0.002	T	0.80132	-0.1510	10	0.24483	T	0.36	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	683;725	E9PEE8;P18564	.;ITB6_HUMAN	I	725;683;618;725	ENSP00000283249:V725I;ENSP00000408024:V683I;ENSP00000386828:V618I;ENSP00000386367:V725I	ENSP00000283249:V725I	V	-	1	0	ITGB6	160672531	0.938000	0.31826	0.989000	0.46669	0.805000	0.45488	1.906000	0.39887	2.739000	0.93911	0.655000	0.94253	GTC		0.428	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		26	330	0	0	0	1	0	26	330					T	160964285	C	T	160964285	3	4	47	1	0	0	0	0	1	0	0	0	7929	478	17	2	201	2	ITGB6	2	160964285	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8488056	160964285	82235088	50	5633											
LRP2	4036	broad.mit.edu	37	chr2	170044660	170044660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattatcctcatcacagaCgaaggttttactaatgcagc	7	10	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:170044660C>T	ENST00000263816.3	-	49	9433	c.9148G>A	c.(9148-9150)Gtc>Atc	p.V3050I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3050	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V3050I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCATCACAGACGAAGGTTTTA	0.512																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.V3050I(1)	central_nervous_system(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9148-9150)Gtc>Atc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						149	136	140					2																	170044660		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044660C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9148G>A	2.37:g.170044660C>T	ENSP00000263816:p.Val3050Ile						p.V3050I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9433	-			3050			LDL-receptor class A 24.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9148G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262840	0.23051	.	.	ENSG00000081479	ENST00000263816	D	0.96104	-3.91	5.68	-2.47	0.06442	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.728006	0.13884	N	0.356140	D	0.88779	0.6529	L	0.39467	1.215	0.09310	N	1	B	0.18166	0.026	B	0.22753	0.041	T	0.76427	-0.2963	10	0.23891	T	0.37	.	1.925	0.03315	0.1068:0.2665:0.2349:0.3918	.	3050	P98164	LRP2_HUMAN	I	3050	ENSP00000263816:V3050I	ENSP00000263816:V3050I	V	-	1	0	LRP2	169752906	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.893000	0.04127	-0.239000	0.09710	0.650000	0.86243	GTC		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		14	474	0	0	0	1	0	14	474					T	170044660	C	T	170044660	3	4	47	1	0	0	0	0	1	0	0	0	8994	536	19	1	4943	1	LRP2	2	170044660	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9080375	170044660	73154713	51	5634											
HOXD3	3232	broad.mit.edu	37	chr2	177036748	177036748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcggcggcttcgccagcGccaacttgcagggcagcccg	15	16	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:177036748G>A	ENST00000468418.3	+	4	3135	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.A349T|HOXD3_ENST00000249440.3_Missense_Mutation_p.A349T			P31249	HXD3_HUMAN	homeobox D3	349					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTTCGCCAGCGCCAACTTGCA	0.697																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1045-1047)Gcc>Acc		homeobox D3							10	13	12					2																	177036748		2173	4277	6450	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036748G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1045G>A	2.37:g.177036748G>A	ENSP00000424734:p.Ala349Thr					HOXD3_ENST00000249440.3_Missense_Mutation_p.A349T|HOXD3_ENST00000410016.1_Missense_Mutation_p.A349T	p.A349T			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3135	+			349					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1045G>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650690	0.67472	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.88664	-2.41;-2.41;-2.41	5.65	4.76	0.60689	.	0.101787	0.64402	D	0.000002	T	0.81123	0.4757	L	0.36672	1.1	0.44079	D	0.99683	P	0.51653	0.947	B	0.32724	0.151	T	0.81701	-0.0813	10	0.44086	T	0.13	.	15.0613	0.71955	0.0:0.435:0.565:0.0	.	349	P31249	HXD3_HUMAN	T	349	ENSP00000424734:A349T;ENSP00000386498:A349T;ENSP00000249440:A349T	ENSP00000249440:A349T	A	+	1	0	HOXD3	176744994	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.927000	0.70080	1.367000	0.46095	0.491000	0.48974	GCC		0.697	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			19	49	0	0	0	1	0	19	49					A	177036748	G	A	177036748	3	1	47	1	0	0	0	0	1	0	0	0	7353	1087	38	1	1051	1	HOXD3	2	177036748	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	6992088	177036748	66162625	52	5635											
TTN	7273	broad.mit.edu	37	chr2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgataacctgccaactaCggcgacttgcctctcgtttc	7	15	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:179413171C>T	ENST00000591111.1	-	289	88483	c.88259G>A	c.(88258-88260)cGt>cAt	p.R29420H	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31061H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29420	Fibronectin type-III 114. {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)			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)			CTGCCAACTACGGCGACTTGC	0.498																																						ENST00000589042.1																			0				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						c.(93181-93183)cGt>cAt		titin							192	191	191					2																	179413171		2000	4160	6160	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413171C>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.88259G>A	2.37:g.179413171C>T	ENSP00000465570:p.Arg29420His					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29420H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000592600.1_RNA	p.R31061H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93406	-			29420			Ig-like 139.		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.93182G>A		.	.	.	.	.	.	.	.	.	.	C	17.62	3.433719	0.62955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	M	0.73319	2.225	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74768	-0.3553	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	21996;22121;22188;29420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28493;21996;22188;22121;21993	ENSP00000343764:R28493H;ENSP00000434586:R21996H;ENSP00000340554:R22188H;ENSP00000352154:R22121H	ENSP00000340554:R22188H	R	-	2	0	TTN	179121417	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	4.102000	0.57776	2.646000	0.89796	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	824	0	0	0	1	0	23	824					T	179413171	C	T	179413171	3	4	47	1	0	0	0	0	1	0	0	0	16789	536	19	1	14893	1	TTN	2	179413171	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	2376423	179413171	63786202	53	5636											
FSIP2	401024	broad.mit.edu	37	chr2	186672819	186672819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttataccagtgttttaaaGcactctggctcttatacttc	5	9	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:186672819G>A	ENST00000424728.1	+	17	18786	c.18786G>A	c.(18784-18786)aaG>aaA	p.K6262K	FSIP2_ENST00000343098.5_Silent_p.K6351K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6262										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGTTTTAAAGCACTCTGGCT	0.338																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19051-19053)aaG>aaA		fibrous sheath interacting protein 2							38	36	37					2																	186672819		1806	4054	5860	SO:0001819	synonymous_variant	401024							g.chr2:186672819G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18786G>A	2.37:g.186672819G>A						FSIP2_ENST00000424728.1_Silent_p.K6262K	p.K6351K	NM_173651.2	NP_775922.2					17	19053	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.19053G>A																																																																																					0.338	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		112	146	0	0	0	1	0	112	146					A	186672819	G	A	186672819	2	1	47	1	0	0	0	0	0	0	0	1	6102	962	34	2		2	FSIP2	2	186672819	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7259648	186672819	56526554	54	5637											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtcttgattagcttcCgtggtcccaagttccagggg	15	9	1	1	rs142397497		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:202216069C>T	ENST00000286190.5	-	1	105	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.R20Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.001					ENST00000405148.2																			1	Substitution - Missense(1)	p.R20Q(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(58-60)cGg>cAg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104	97	100		59,59	2.3	0.9	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/423,20/446	202216069	1,13005	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216069C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.59G>A	2.37:g.202216069C>T	ENSP00000286190:p.Arg20Gln					ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R20Q	p.R20Q	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			2	502	-			20					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.59G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597707	0.46318	0.0	1.16E-4	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.58210	0.91;0.91;0.91;0.91;0.35	5.06	2.28	0.28536	.	0.317119	0.23103	N	0.051893	T	0.33818	0.0876	L	0.33485	1.01	0.21020	N	0.999809	B;B	0.30033	0.266;0.266	B;B	0.22386	0.039;0.039	T	0.17379	-1.0371	10	0.46703	T	0.11	-5.5698	5.0633	0.14568	0.0:0.6437:0.1719:0.1844	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Q	20	ENSP00000286190:R20Q;ENSP00000385098:R20Q;ENSP00000376086:R20Q;ENSP00000412073:R20Q;ENSP00000407585:R20Q	ENSP00000286190:R20Q	R	-	2	0	ALS2CR12	201924314	0.021000	0.18746	0.897000	0.35233	0.905000	0.53344	0.413000	0.21148	0.808000	0.34231	-0.137000	0.14449	CGG		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		35	217	0	0	0	1	0	35	217					T	202216069	C	T	202216069	3	4	47	1	0	0	0	0	1	0	0	0	553	652	23	1	1334	1	ALS2CR12	2	202216069	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	15543250	202216069	40983304	55	5638											
CXCR1	3577	broad.mit.edu	37	chr2	219029669	219029669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagatgggcaaggtcaggGcaaagagtaggtcggccaag	16	9	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:219029669G>A	ENST00000295683.2	-	2	386	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	89					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)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CAAGGTCAGGGCAAAGAGTAG	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(265-267)gCc>gTc		chemokine (C-X-C motif) receptor 1							118	114	116					2																	219029669		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029669G>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.266C>T	2.37:g.219029669G>A	ENSP00000295683:p.Ala89Val						p.A89V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	386	-			89					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.266C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068880	0.76301	.	.	ENSG00000163464	ENST00000295683	T	0.37235	1.21	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.260617	0.37348	N	0.002122	T	0.22589	0.0545	N	0.16903	0.455	0.32106	N	0.589958	B	0.33748	0.423	B	0.39805	0.31	T	0.15093	-1.0449	10	0.02654	T	1	.	11.0786	0.48047	0.0865:0.0:0.9135:0.0	.	89	P25024	CXCR1_HUMAN	V	89	ENSP00000295683:A89V	ENSP00000295683:A89V	A	-	2	0	CXCR1	218737914	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.713000	0.68415	2.415000	0.81967	0.655000	0.94253	GCC		0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		13	429	0	0	0	1	0	13	429					A	219029669	G	A	219029669	3	1	47	1	0	0	0	0	1	0	0	0	4101	1203	42	2	790	2	CXCR1	2	219029669	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	16813600	219029669	24169704	56	5639											
SCG2	7857	broad.mit.edu	37	chr2	224463590	224463590	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaaagttcttttctgaattCaaggcatagggcttattttc	9	6	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:224463590C>A	ENST00000305409.2	-	2	643	c.411G>T	c.(409-411)ttG>ttT	p.L137F		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTGAATTCAAGGCATAGG	0.418																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(409-411)ttG>ttT		secretogranin II							169	169	169					2																	224463590		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463590C>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.411G>T	2.37:g.224463590C>A	ENSP00000304133:p.Leu137Phe						p.L137F	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	643	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	137					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.411G>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724117	0.30593	.	.	ENSG00000171951	ENST00000305409;ENST00000421386	T;T	0.01947	4.54;4.54	5.5	2.25	0.28309	.	0.523587	0.17566	N	0.169646	T	0.06690	0.0171	L	0.57536	1.79	0.27734	N	0.944717	D	0.61080	0.989	P	0.62298	0.9	T	0.17289	-1.0374	10	0.30078	T	0.28	.	8.7801	0.34787	0.0:0.6547:0.0:0.3453	.	137	P13521	SCG2_HUMAN	F	137	ENSP00000304133:L137F;ENSP00000394702:L137F	ENSP00000304133:L137F	L	-	3	2	SCG2	224171834	0.981000	0.34729	0.366000	0.25914	0.948000	0.59901	0.473000	0.22132	0.805000	0.34159	0.585000	0.79938	TTG		0.418	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		283	437	1	0	2.16399e-160	1	2.38102e-160	283	437					A	224463590	C	A	224463590	3	1	47	1	0	0	0	0	1	0	0	0	13941	825	29	3	1446	3	SCG2	2	224463590	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	5433921	224463590	18735783	57	5640											
SRGAP3	9901	broad.mit.edu	37	chr3	9036163	9036163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatagctcacgcggggaccGccccatgtagtcaaacttgg	13	12	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:9036163G>A	ENST00000383836.3	-	19	2699	c.2272C>T	c.(2272-2274)Cgg>Tgg	p.R758W	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R734W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	758	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCGGGGACCGCCCCATGTAG	0.602			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2272-2274)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 3							67	65	66					3																	9036163		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036163G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2272C>T	3.37:g.9036163G>A	ENSP00000373347:p.Arg758Trp					SRGAP3_ENST00000360413.3_Missense_Mutation_p.R734W	p.R758W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2699	-			758			SH3.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2272C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346604	0.82022	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.52754	0.65;0.65	4.95	3.0	0.34707	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.77859	-0.2431	10	0.87932	D	0	.	13.8591	0.63548	0.0:0.0:0.725:0.275	.	734;758	O43295-2;O43295	.;SRGP2_HUMAN	W	758;734	ENSP00000373347:R758W;ENSP00000353587:R734W	ENSP00000353587:R734W	R	-	1	2	SRGAP3	9011163	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.932000	0.56537	1.176000	0.42840	-0.188000	0.12872	CGG		0.602	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			70	207	0	0	0	1	0	70	207					A	9036163	G	A	9036163	3	1	47	1	0	0	0	0	1	0	0	0	15199	1086	38	1	1043	1	SRGAP3	3	9036163	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		9036163	188986267	58	5641											
TGM4	7047	broad.mit.edu	37	chr3	44932185	44932185	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accacatccttaagtctgaaGaaaacatcctataccttctc	3	13	2	2	rs56944783		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:44932185G>T	ENST00000296125.4	+	4	459	c.391G>T	c.(391-393)Gaa>Taa	p.E131*		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	131					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TAAGTCTGAAGAAAACATCCT	0.493																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(391-393)Gaa>Taa		transglutaminase 4	L-Glutamine(DB00130)						145	123	130					3																	44932185		2203	4300	6503	SO:0001587	stop_gained	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44932185G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.391G>T	3.37:g.44932185G>T	ENSP00000296125:p.Glu131*						p.E131*	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	4	459	+			131					Q16707|Q96QN4	Nonsense_Mutation	SNP	ENST00000296125.4	37	c.391G>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795916	0.50208	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.28	1.35	0.21983	.	17.102400	0.01350	U	0.011886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	3.3803	0.07252	0.3568:0.0:0.6432:0.0	.	.	.	.	X	131	.	ENSP00000296125:E131X	E	+	1	0	TGM4	44907189	0.001000	0.12720	0.006000	0.13384	0.068000	0.16541	1.064000	0.30579	1.213000	0.43380	0.460000	0.39030	GAA		0.493	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		5	248	1	0	0.000602214	1	0.000613732	5	248					T	44932185	G	T	44932185	4	4	47	1	0	0	0	0	0	1	0	0	15884	943	33	3	405	3	TGM4	3	44932185	Nonsense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	35896022	44932185	153090245	59	5642											
CSPG5	10675	broad.mit.edu	37	chr3	47618381	47618381	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgccattgtgacagtaacTtgggaagaggtcgcacactg	13	10	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:47618381T>A	ENST00000383738.2	-	2	3233	c.1135A>T	c.(1135-1137)Agt>Tgt	p.S379C	CSPG5_ENST00000264723.4_Missense_Mutation_p.S379C|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.S241C	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	379	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACAGTAACTTGGGAAGAGG	0.592																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1135-1137)Agt>Tgt		chondroitin sulfate proteoglycan 5 (neuroglycan C)							147	155	152					3																	47618381		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618381T>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1135A>T	3.37:g.47618381T>A	ENSP00000373244:p.Ser379Cys					CSPG5_ENST00000264723.4_Missense_Mutation_p.S379C|CSPG5_ENST00000456150.1_Missense_Mutation_p.S241C	p.S379C	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3233	-			379			EGF-like.		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1135A>T	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029689	0.75504	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.26223	1.76;1.77;1.75	4.63	4.63	0.57726	Epidermal growth factor-like (1);	0.047542	0.85682	D	0.000000	T	0.31040	0.0784	N	0.22421	0.69	0.32036	N	0.598886	D;D	0.69078	0.995;0.997	P;P	0.58660	0.72;0.843	T	0.35847	-0.9772	10	0.62326	D	0.03	-8.4774	12.9957	0.58646	0.0:0.0:0.0:1.0	.	379;379	O95196;O95196-2	CSPG5_HUMAN;.	C	241;379;379	ENSP00000392096:S241C;ENSP00000373244:S379C;ENSP00000264723:S379C	ENSP00000264723:S379C	S	-	1	0	CSPG5	47593385	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	3.360000	0.52299	1.931000	0.55961	0.533000	0.62120	AGT		0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		49	875	0	0	0	1	0	49	875					A	47618381	T	A	47618381	3	1	47	1	0	0	0	0	1	0	0	0	3972	1609	56	5	500	5	CSPG5	3	47618381	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	2686196	47618381	150404049	60	5643											
WDR6	11180	broad.mit.edu	37	chr3	49051722	49051722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgtagtgatggggccGtaaggtgagagcatagggcc	17	8	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:49051722G>A	ENST00000608424.1	+	3	2701	c.2662G>A	c.(2662-2664)Gta>Ata	p.V888I	WDR6_ENST00000448293.1_Missense_Mutation_p.V837I|WDR6_ENST00000415265.2_Missense_Mutation_p.V336I|WDR6_ENST00000395474.3_Missense_Mutation_p.V918I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	888					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGATGGGGCCGTAAGGTGAGA	0.597											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2752-2754)Gta>Ata		WD repeat domain 6							58	59	58					3																	49051722		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051722G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2662G>A	3.37:g.49051722G>A	ENSP00000477389:p.Val888Ile		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000448293.1_Missense_Mutation_p.V837I|WDR6_ENST00000415265.2_Missense_Mutation_p.V336I	p.V918I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	3032	+			888					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2752G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.384189	0.82792	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.70045	2.88;-0.45;-0.45	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058650	0.64402	D	0.000003	T	0.70281	0.3206	L	0.42245	1.32	0.47949	D	0.999553	D;D;D	0.71674	0.987;0.998;0.983	P;P;B	0.56163	0.531;0.793;0.353	T	0.63528	-0.6617	10	0.12430	T	0.62	-23.2484	18.5456	0.91045	0.0:0.0:1.0:0.0	.	336;888;837	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	918;336;837	ENSP00000378857:V918I;ENSP00000412195:V336I;ENSP00000413432:V837I	ENSP00000378857:V918I	V	+	1	0	WDR6	49026726	0.995000	0.38212	0.999000	0.59377	0.767000	0.43475	2.257000	0.43240	2.626000	0.88956	0.555000	0.69702	GTA		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			5	214	0	0	0	1	0	5	214					A	49051722	G	A	49051722	3	1	47	1	0	0	0	0	1	0	0	0	17364	1145	40	1	2762	1	WDR6	3	49051722	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1433341	49051722	148970708	61	5644											
CCDC71	64925	broad.mit.edu	37	chr3	49200839	49200839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccccctttcattcgcCggacactgggggacccagtg	12	15	1	1	rs370573313		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:49200839C>T	ENST00000321895.6	-	2	909	c.803G>A	c.(802-804)cGg>cAg	p.R268Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	268										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTCATTCGCCGGACACTGGG	0.642																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(802-804)cGg>cAg		coiled-coil domain containing 71		C	GLN/ARG	0,4406		0,0,2203	61	65	64		803	-10.5	0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC71	NM_022903.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	268/468	49200839	1,13005	2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200839C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.803G>A	3.37:g.49200839C>T	ENSP00000319006:p.Arg268Gln						p.R268Q	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	909	-			268					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.803G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	2.331	-0.353435	0.05173	0.0	1.16E-4	ENSG00000177352	ENST00000321895	T	0.33865	1.39	5.27	-10.5	0.00291	.	2.313130	0.02279	N	0.069261	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-10.645	2.3731	0.04335	0.1081:0.3023:0.3283:0.2613	.	268	Q8IV32	CCD71_HUMAN	Q	268	ENSP00000319006:R268Q	ENSP00000319006:R268Q	R	-	2	0	CCDC71	49175843	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.669000	0.05262	-2.865000	0.00325	-1.509000	0.00949	CGG		0.642	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		10	443	0	0	0	1	0	10	443					T	49200839	C	T	49200839	3	4	47	1	0	0	0	0	1	0	0	0	2851	652	23	1	604	1	CCDC71	3	49200839	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	149117	49200839	148821591	62	5645											
CACNA2D3	55799	broad.mit.edu	37	chr3	54604068	54604068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggactccgtctgactatcgcGaagcaaacagtctcatccat	8	13	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:54604068G>A	ENST00000474759.1	+	8	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_ENST00000288197.5_Silent_p.A275A|CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGACTATCGCGAAGCAAACAG	0.473																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(823-825)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 3							189	183	185					3																	54604068		2025	4187	6212	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604068G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.825G>A	3.37:g.54604068G>A						CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A|CACNA2D3_ENST00000288197.5_Silent_p.A275A	p.A275A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	8	873	+			275			VWFA.		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.825G>A	CCDS54598.1																																																																																				0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			12	599	0	0	0	1	0	12	599					A	54604068	G	A	54604068	2	1	47	1	0	0	0	0	0	0	0	1	2557	1045	37	1		1	CACNA2D3	3	54604068	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5403229	54604068	143418362	63	5646											
ERC2	26059	broad.mit.edu	37	chr3	55733472	55733472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgatggtggtggtgatgGtggtggtggtggtaatggtg	22	1	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:55733472G>A	ENST00000288221.6	-	16	3036	c.2781C>T	c.(2779-2781)caC>caT	p.H927H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ggtggtgatggtggtggtggt	0.507																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2781)caC>caT		ELKS/RAB6-interacting/CAST family member 2							247	254	252					3																	55733472		2086	4219	6305	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733472G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781C>T	3.37:g.55733472G>A							p.H927H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036	-			927			Poly-His.		Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.2781C>T	CCDS46851.1																																																																																				0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		6	701	0	0	0	1	0	6	701					A	55733472	G	A	55733472	2	1	47	1	0	0	0	0	0	0	0	1	5229	1252	44	2		2	ERC2	3	55733472	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1129404	55733472	142288958	64	5647											
ROBO2	6092	broad.mit.edu	37	chr3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatgtcagatcctgtgCgcacacaaggtactttcaac	8	13	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1840-1842)Cgc>Tgc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							130	129	129					3																	77614262		1971	4157	6128	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614262C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1840C>T	3.37:g.77614262C>T	ENSP00000417164:p.Arg614Cys					ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C	p.R614C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2740	+			614					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1840C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157547	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	D;D;D	0.82893	-1.66;-1.66;-1.66	6.02	6.02	0.97574	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000320	D	0.91304	0.7258	M	0.71581	2.175	0.41715	D	0.989473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91054	0.4880	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	630;614;614	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	630;630;634;614;614;335	ENSP00000417335:R630C;ENSP00000417164:R614C;ENSP00000327536:R614C	ENSP00000327536:R614C	R	+	1	0	ROBO2	77696952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.140000	0.58031	2.857000	0.98124	0.650000	0.86243	CGC		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		6	372	0	0	0	1	0	6	372					T	77614262	C	T	77614262	3	4	47	1	0	0	0	0	1	0	0	0	13564	768	27	1	1888	1	ROBO2	3	77614262	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	21880790	77614262	120408168	65	5648											
GPR128	84873	broad.mit.edu	37	chr3	100362231	100362231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggtggggccttcaaatgttCgcttctctgtgcagaaaggt	13	9	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:100362231C>T	ENST00000273352.3	+	7	1088	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	274					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)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTCAAATGTTCGCTTCTCTGT	0.393																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(820-822)Cgc>Tgc		G protein-coupled receptor 128							145	147	146					3																	100362231		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362231C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.820C>T	3.37:g.100362231C>T	ENSP00000273352:p.Arg274Cys					GPR128_ENST00000475887.1_Intron	p.R274C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1088	+			274					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.820C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123655	0.56613	.	.	ENSG00000144820	ENST00000273352	T	0.38887	1.11	4.91	3.99	0.46301	.	1.037960	0.07678	N	0.936641	T	0.44286	0.1286	L	0.47716	1.5	0.37010	D	0.895695	D	0.69078	0.997	P	0.47299	0.543	T	0.49476	-0.8936	10	0.56958	D	0.05	.	10.5489	0.45077	0.1915:0.8085:0.0:0.0	.	274	Q96K78	GP128_HUMAN	C	274	ENSP00000273352:R274C	ENSP00000273352:R274C	R	+	1	0	GPR128	101844921	0.640000	0.27243	0.347000	0.25668	0.122000	0.20287	1.120000	0.31271	2.553000	0.86117	0.650000	0.86243	CGC		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			123	420	0	0	0	1	0	123	420					T	100362231	C	T	100362231	3	4	47	1	0	0	0	0	1	0	0	0	6670	884	31	1	846	1	GPR128	3	100362231	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	22747969	100362231	97660199	66	5649											
TFG	10342	broad.mit.edu	37	chr3	100455439	100455441	+	In_Frame_Del	DEL	AGA	AGA	-													gggccacccagtgctcctgcAgaagatcgttcaggaacacc					rs371412179		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:100455439_100455441delAGA	ENST00000240851.4	+	6	940_942	c.600_602delAGA	c.(598-603)gcagaa>gca	p.E201del	TFG_ENST00000418917.2_In_Frame_Del_p.E201del|TFG_ENST00000476228.1_In_Frame_Del_p.E201del|TFG_ENST00000490574.1_In_Frame_Del_p.E201del	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	201					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GTGCTCCTGCAGAAGATCGTTCA	0.512			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"E, L"	"NTRK1, ALK"		"papillary thyroid, ALCL, NSCLC"	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(598-603)gca>gc		TRK-fused gene																																				SO:0001651	inframe_deletion	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100455439_100455441delAGA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.600_602delAGA	3.37:g.100455442_100455444delAGA	ENSP00000240851:p.Glu201del					TFG_ENST00000490574.1_In_Frame_Del_p.AE200del|TFG_ENST00000476228.1_In_Frame_Del_p.AE200del|TFG_ENST00000418917.2_In_Frame_Del_p.AE200del	p.AE200del	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			6	940_942	+			200					D3DN49|G5E9V1|Q15656|Q969I2	In_Frame_Del	DEL	ENST00000240851.4	37	c.600_602delAGA	CCDS2939.1																																																																																				0.512	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		28	250						28	250	---	---	---	---	-	100455441	AGA	-	100455439	7	5	47	1	0	1	0	1	0	0	0	0	15858	175	7	0	618	0	TFG	3	100455439	In_Frame_Del	DEL	AGA	TCGA-FB-AAPP-01A-12D-A40W-08	93208	100455439	97566991	67	5650											
DZIP3	9666	broad.mit.edu	37	chr3	108394663	108394663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttcaattaaaggctgcGgtagacagttggaatgccat	10	8	2	1	rs191237968	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:108394663G>A	ENST00000361582.3	+	25	2954	c.2724G>A	c.(2722-2724)gcG>gcA	p.A908A	DZIP3_ENST00000463306.1_Silent_p.A908A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	908					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TAAAGGCTGCGGTAGACAGTT	0.363													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15834	0.0		0.001	False		,,,				2504	0.0					ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2722-2724)gcG>gcA		DAZ interacting zinc finger protein 3							89	83	85					3																	108394663		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108394663G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2724G>A	3.37:g.108394663G>A						DZIP3_ENST00000463306.1_Silent_p.A908A	p.A908A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			25	2954	+			908					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.2724G>A	CCDS2952.1																																																																																				0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		4	203	0	0	0	1	0	4	203					A	108394663	G	A	108394663	2	1	47	1	0	0	0	0	0	0	0	1	4881	1103	39	1		1	DZIP3	3	108394663	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7939224	108394663	89627767	68	5651											
CASR	846	broad.mit.edu	37	chr3	122002846	122002846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgccgcctgcgccagcCggcctttggcatcagcttcg	13	16	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:122002846C>T	ENST00000490131.1	+	7	2417	c.2045C>T	c.(2044-2046)cCg>cTg	p.P682L	CASR_ENST00000498619.1_Missense_Mutation_p.P692L|CASR_ENST00000296154.5_Missense_Mutation_p.P682L|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	682					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCGCCAGCCGGCCTTTGGC	0.607																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2074-2076)cCg>cTg		calcium-sensing receptor	Cinacalcet(DB01012)						91	78	82					3																	122002846		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002846C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2045C>T	3.37:g.122002846C>T	ENSP00000418685:p.Pro682Leu					CASR_ENST00000296154.5_Missense_Mutation_p.P682L|CASR_ENST00000490131.1_Missense_Mutation_p.P682L	p.P692L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2513	+			682					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2075C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859543	0.71834	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87412	-2.25;-2.25;-2.25	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.833	D	0.87897	0.2688	10	0.34782	T	0.22	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	692;682	E7ENE0;P41180	.;CASR_HUMAN	L	682;692;682	ENSP00000418685:P682L;ENSP00000420194:P692L;ENSP00000296154:P682L	ENSP00000296154:P682L	P	+	2	0	CASR	123485536	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCG		0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		97	285	0	0	0	1	0	97	285					T	122002846	C	T	122002846	3	4	47	1	0	0	0	0	1	0	0	0	2689	652	23	1	2097	1	CASR	3	122002846	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	13608183	122002846	76019584	69	5652											
SLC25A36	55186	broad.mit.edu	37	chr3	140689817	140689817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggcttataaagactcGgttacagcttgatgcaaggt	10	7	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:140689817G>A	ENST00000324194.6	+	5	602	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	SLC25A36_ENST00000446041.2_Missense_Mutation_p.R145Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119Q|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	145					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ATAAAGACTCGGTTACAGCTT	0.308																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(433-435)cGg>cAg		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							78	77	78					3																	140689817		2203	4299	6502	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140689817G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.434G>A	3.37:g.140689817G>A	ENSP00000320688:p.Arg145Gln					SLC25A36_ENST00000324194.6_Missense_Mutation_p.R145Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119Q	p.R145Q	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			5	659	+			145					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.434G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863607	0.91511	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.84146	-1.81;-1.81;-1.81	5.66	4.79	0.61399	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.982;0.969;0.997	D	0.94201	0.7450	10	0.87932	D	0	-13.742	12.8872	0.58051	0.0795:0.0:0.9205:0.0	.	119;145;145	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	Q	145;145;119	ENSP00000401938:R145Q;ENSP00000320688:R145Q;ENSP00000391521:R119Q	ENSP00000320688:R145Q	R	+	2	0	SLC25A36	142172507	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.813000	0.99286	1.529000	0.49120	-0.150000	0.13652	CGG		0.308	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		27	248	0	0	0	1	0	27	248					A	140689817	G	A	140689817	3	1	47	1	0	0	0	0	1	0	0	0	14550	1116	39	1	452	1	SLC25A36	3	140689817	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	18686971	140689817	57332613	70	5653											
PLCH1	23007	broad.mit.edu	37	chr3	155301425	155301425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctgattctcatctgtgtCggcttcctgaaaagggcata	9	11	2	2	rs143246976		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:155301425C>T	ENST00000340059.7	-	5	570	c.571G>A	c.(571-573)Gac>Aac	p.D191N	PLCH1_ENST00000334686.6_Missense_Mutation_p.D173N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D173N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D191N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D173N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D191N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	191	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATCTGTGTCGGCTTCCTGA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		18353	0.001		0.0	False		,,,				2504	0.0					ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(517-519)Gac>Aac		phospholipase C, eta 1							52	54	53					3																	155301425		2202	4300	6502	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155301425C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.571G>A	3.37:g.155301425C>T	ENSP00000345988:p.Asp191Asn					PLCH1_ENST00000334686.6_Missense_Mutation_p.D173N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D191N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D173N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D191N|PLCH1_ENST00000340059.7_Missense_Mutation_p.D191N	p.D173N			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	874	-			191			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.517G>A	CCDS46939.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.074936	0.94000	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.45	5.45	0.79879	EF-hand-like domain (1);	0.219310	0.44902	D	0.000406	D	0.96756	0.8941	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97181	0.9851	10	0.59425	D	0.04	.	19.2951	0.94118	0.0:1.0:0.0:0.0	.	173;191;191	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	191;173;191;191;173;173	ENSP00000419100:D191N;ENSP00000417502:D173N;ENSP00000402759:D191N;ENSP00000345988:D191N;ENSP00000335469:D173N;ENSP00000412977:D173N	ENSP00000335469:D173N	D	-	1	0	PLCH1	156784119	1.000000	0.71417	0.994000	0.49952	0.828000	0.46876	7.624000	0.83124	2.559000	0.86315	0.591000	0.81541	GAC		0.323	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	217	0	0	0	1	0	10	217					T	155301425	C	T	155301425	3	4	47	1	0	0	0	0	1	0	0	0	12079	884	31	1	4601	1	PLCH1	3	155301425	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	14611608	155301425	42721005	71	5654											
SERPINI1	5274	broad.mit.edu	37	chr3	167525063	167525063	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaggaaattgatttaaaaGatgttttgaaggctcttgga	10	3	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:167525063G>T	ENST00000295777.5	+	6	1344	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	SERPINI1_ENST00000446050.2_Missense_Mutation_p.D305Y|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	305					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGATTTAAAAGATGTTTTGAA	0.323																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(913-915)Gat>Tat		serpin peptidase inhibitor, clade I (neuroserpin), member 1							65	72	70					3																	167525063		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525063G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.913G>T	3.37:g.167525063G>T	ENSP00000295777:p.Asp305Tyr					SERPINI1_ENST00000446050.2_Missense_Mutation_p.D305Y|SERPINI1_ENST00000488374.1_3'UTR	p.D305Y	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1344	+			305					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.913G>T	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.973826|2.973826	0.53720|0.53720	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	T;T|.	0.76186|.	-1.0;-1.0|.	5.36|5.36	2.56|2.56	0.30785|0.30785	Serpin domain (3);|.	0.363956|.	0.34088|.	N|.	0.004280|.	T|T	0.78710|0.78710	0.4326|0.4326	M|M	0.92507|0.92507	3.315|3.315	0.48901|0.48901	D|D	0.999725|0.999725	P|.	0.39665|.	0.682|.	B|.	0.43413|.	0.419|.	T|T	0.78625|0.78625	-0.2131|-0.2131	10|5	0.72032|.	D|.	0.01|.	.|.	9.2446|9.2446	0.37518|0.37518	0.0744:0.2738:0.6518:0.0|0.0744:0.2738:0.6518:0.0	.|.	305|.	Q99574|.	NEUS_HUMAN|.	Y|I	305;305;53|13	ENSP00000397373:D305Y;ENSP00000295777:D305Y|.	ENSP00000295777:D305Y|.	D|R	+|+	1|2	0|0	SERPINI1|SERPINI1	169007757|169007757	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.793000|1.793000	0.38764|0.38764	0.232000|0.232000	0.21100|0.21100	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.323	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			16	356	1	0	1.87028e-06	1	1.97066e-06	16	356					T	167525063	G	T	167525063	3	4	47	1	0	0	0	0	1	0	0	0	14168	942	33	3	931	3	SERPINI1	3	167525063	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	12223638	167525063	30497367	72	5655											
EPHB3	2049	broad.mit.edu	37	chr3	184298566	184298566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggccatagcctatcGgaagttcacttctgctagtg	10	12	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:184298566G>A	ENST00000330394.2	+	13	2890	c.2438G>A	c.(2437-2439)cGg>cAg	p.R813Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	813	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATAGCCTATCGGAAGTTCACT	0.602																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2437-2439)cGg>cAg		EPH receptor B3							99	90	93					3																	184298566		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298566G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2438G>A	3.37:g.184298566G>A	ENSP00000332118:p.Arg813Gln					EIF2B5_ENST00000444495.1_Intron	p.R813Q	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		13	2890	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		813			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2438G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584076	0.86748	.	.	ENSG00000182580	ENST00000330394	D	0.82619	-1.63	4.12	4.12	0.48240	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89980	0.4100	10	0.87932	D	0	.	16.259	0.82532	0.0:0.0:1.0:0.0	.	813	P54753	EPHB3_HUMAN	Q	813	ENSP00000332118:R813Q	ENSP00000332118:R813Q	R	+	2	0	EPHB3	185781260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.260000	0.74910	0.643000	0.83706	CGG		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		117	116	0	0	0	1	0	117	116					A	184298566	G	A	184298566	3	1	47	1	0	0	0	0	1	0	0	0	5194	1116	39	1	2488	1	EPHB3	3	184298566	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	16773503	184298566	13723864	73	5656											
ADRA2C	152	broad.mit.edu	37	chr4	3769385	3769385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcgcgcgccagctcgcGctccgtcgagttcttcctgt	11	17	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:3769385G>A	ENST00000330055.5	+	1	1261	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	351					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)			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)	GCCAGCTCGCGCTCCGTCGAG	0.786																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1051-1053)cGc>cAc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						10	10	10					4																	3769385		1764	3681	5445	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.chr4:3769385G>A	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.1052G>A	4.37:g.3769385G>A	ENSP00000386069:p.Arg351His					ADRA2C_ENST00000509482.1_Intron	p.R351H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1261	+			351					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1052G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656653	0.67586	.	.	ENSG00000184160	ENST00000330055	T	0.64991	-0.13	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72439	0.3460	M	0.81614	2.55	0.29204	N	0.875023	D	0.64830	0.994	P	0.56916	0.809	T	0.66368	-0.5941	9	0.52906	T	0.07	.	7.836	0.29369	0.1173:0.0:0.8827:0.0	.	351	P18825	ADA2C_HUMAN	H	351	ENSP00000386069:R351H	ENSP00000386069:R351H	R	+	2	0	ADRA2C	3739183	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.466000	0.60148	1.646000	0.50622	0.436000	0.28706	CGC		0.786	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	20	0	0	0	1	0	3	20					A	3769385	G	A	3769385	3	1	47	1	0	0	0	0	1	0	0	0	339	1087	38	1	1054	1	ADRA2C	4	3769385	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		3769385	187384891	74	5657											
DHX15	1665	broad.mit.edu	37	chr4	24543566	24543566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtctggtacgtccagctCgaccagccctttgctgagct	11	14	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:24543566C>T	ENST00000336812.4	-	8	1571	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	472	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACGTCCAGCTCGACCAGCCCT	0.433																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1414-1416)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 15							115	113	114					4																	24543566		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24543566C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1415G>A	4.37:g.24543566C>T	ENSP00000336741:p.Arg472Gln						p.R472Q	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			8	1571	-		Breast(46;0.0503)	472			Helicase C-terminal.		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.1415G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	36	5.953147	0.97139	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	D	0.99143	-5.48	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.99916	4.945	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96831	0.9611	10	0.87932	D	0	-6.4582	20.8598	0.99761	0.0:1.0:0.0:0.0	.	472	O43143	DHX15_HUMAN	Q	472;461	ENSP00000336741:R472Q	ENSP00000336741:R472Q	R	-	2	0	DHX15	24152664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.775000	0.68915	2.937000	0.99478	0.650000	0.86243	CGA		0.433	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		6	411	0	0	0	1	0	6	411					T	24543566	C	T	24543566	3	4	47	1	0	0	0	0	1	0	0	0	4517	884	31	1	1000	1	DHX15	4	24543566	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	20774181	24543566	166610710	75	5658											
ZCCHC4	29063	broad.mit.edu	37	chr4	25366651	25366651	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttttattttacagcctggatCcactgtagcatctgcaatca	6	10	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:25366651C>A	ENST00000302874.4	+	12	1293	c.1269C>A	c.(1267-1269)atC>atA	p.I423I		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	423							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CAGCCTGGATCCACTGTAGCA	0.368																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1267-1269)atC>atA		zinc finger, CCHC domain containing 4							126	111	116					4																	25366651		1880	4109	5989	SO:0001819	synonymous_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25366651C>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1269C>A	4.37:g.25366651C>A							p.I423I	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			12	1293	+		Breast(46;0.0503)	423					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	c.1269C>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035334	0.19590	.	.	ENSG00000168228	ENST00000505412	.	.	.	5.63	3.59	0.41128	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-16.2181	2.9404	0.05828	0.0:0.4847:0.2725:0.2428	.	.	.	.	T	288	.	.	P	+	1	0	ZCCHC4	24975749	0.334000	0.24739	1.000000	0.80357	0.990000	0.78478	0.213000	0.17521	1.340000	0.45581	0.591000	0.81541	CCA		0.368	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			16	422	1	0	3.32936e-07	1	3.52799e-07	16	422					A	25366651	C	A	25366651	2	1	47	1	0	0	0	0	0	0	0	1	17643	845	30	3		3	ZCCHC4	4	25366651	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	823085	25366651	165787625	76	5659											
ATP10D	57205	broad.mit.edu	37	chr4	47578836	47578836	+	Missense_Mutation	SNP	C	C	T													ccagttcttttgtggattttCaggaacatccatgactgatt							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:47578836C>T	ENST00000273859.3	+	19	3682	c.3413C>T	c.(3412-3414)tCa>tTa	p.S1138L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1138					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGGATTTTCAGGAACATCC	0.413																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3412-3414)tCa>tTa		ATPase, class V, type 10D							402	380	388					4																	47578836		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47578836C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3413C>T	4.37:g.47578836C>T	ENSP00000273859:p.Ser1138Leu						p.S1138L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			19	3682	+			1138					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3413C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727860	0.89390	.	.	ENSG00000145246	ENST00000273859	T	0.71103	-0.54	5.21	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93769	0.7073	10	0.87932	D	0	-7.4274	13.0364	0.58875	0.0:0.923:0.0:0.077	.	1138	Q9P241	AT10D_HUMAN	L	1138	ENSP00000273859:S1138L	ENSP00000273859:S1138L	S	+	2	0	ATP10D	47273593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.651000	0.83577	1.443000	0.47586	0.561000	0.74099	TCA		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		378	794	0	0	0	1	0	378	794					T	47578836	C	T	47578836	3	4	47	1	0	0	0	0	1	0	0	0	1119	838	29	2	3483	2	ATP10D	4	47578836	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	22212185	47578836	143575440	77	5660	40	2									
ATP10D	57205	broad.mit.edu	37	chr4	47578839	47578839	+	Missense_Mutation	SNP	G	G	T													gttcttttgtggattttcagGaacatccatgactgattact							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:47578839G>T	ENST00000273859.3	+	19	3685	c.3416G>T	c.(3415-3417)gGa>gTa	p.G1139V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1139					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGATTTTCAGGAACATCCATG	0.418																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3415-3417)gGa>gTa		ATPase, class V, type 10D							406	382	390					4																	47578839		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47578839G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3416G>T	4.37:g.47578839G>T	ENSP00000273859:p.Gly1139Val						p.G1139V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			19	3685	+			1139					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3416G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123224	0.77436	.	.	ENSG00000145246	ENST00000273859	T	0.38887	1.11	5.21	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82354	-0.0499	10	0.87932	D	0	-18.6669	13.0364	0.58875	0.077:0.0:0.923:0.0	.	1139	Q9P241	AT10D_HUMAN	V	1139	ENSP00000273859:G1139V	ENSP00000273859:G1139V	G	+	2	0	ATP10D	47273596	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.605000	0.74155	1.443000	0.47586	0.561000	0.74099	GGA		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		364	789	1	0	2.55502e-134	1	2.80301e-134	364	789					T	47578839	G	T	47578839	3	4	47	1	0	0	0	0	1	0	0	0	1119	1174	41	3	3486	3	ATP10D	4	47578839	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3	47578839	143575437	78	5661	40	2									
PPEF2	5470	broad.mit.edu	37	chr4	76787474	76787474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcaacacagactccacCgctgctgcccagtcactcaa	8	16	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:76787474C>T	ENST00000286719.7	-	15	2144	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	596	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGACTCCACCGCTGCTGCCC	0.522																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1786-1788)gcG>gcA		protein phosphatase, EF-hand calcium binding domain 2							88	76	80					4																	76787474		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787474C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1788G>A	4.37:g.76787474C>T							p.A596A	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2144	-			596			EF-hand 1.		O14831	Silent	SNP	ENST00000286719.7	37	c.1788G>A	CCDS34013.1																																																																																				0.522	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		8	232	0	0	0	1	0	8	232					T	76787474	C	T	76787474	2	4	47	1	0	0	0	0	0	0	0	1	12350	639	23	1		1	PPEF2	4	76787474	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	29208635	76787474	114366802	79	5662											
TACR3	6870	broad.mit.edu	37	chr4	104640413	104640413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgtagatgaaattgacCaacgtgttgaaggcggccat	13	8	0	4			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:104640413C>A	ENST00000304883.2	-	1	560	c.420G>T	c.(418-420)ttG>ttT	p.L140F		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	140					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGAAATTGACCAACGTGTTGA	0.532																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(418-420)ttG>ttT		tachykinin receptor 3							109	99	102					4																	104640413		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640413C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.420G>T	4.37:g.104640413C>A	ENSP00000303325:p.Leu140Phe						p.L140F	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	560	-		Hepatocellular(203;0.217)	140					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.420G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633031	0.67015	.	.	ENSG00000169836	ENST00000304883	T	0.36520	1.25	5.26	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.48537	0.1505	M	0.63428	1.95	0.38669	D	0.95225	D	0.57257	0.979	P	0.57468	0.821	T	0.54057	-0.8350	10	0.62326	D	0.03	.	9.2795	0.37720	0.0:0.7609:0.1571:0.082	.	140	P29371	NK3R_HUMAN	F	140	ENSP00000303325:L140F	ENSP00000303325:L140F	L	-	3	2	TACR3	104859862	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	-0.274000	0.08537	1.210000	0.43336	0.591000	0.81541	TTG		0.532	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		6	229	1	0	5.18039e-06	1	5.42777e-06	6	229					A	104640413	C	A	104640413	3	1	47	1	0	0	0	0	1	0	0	0	15559	593	21	3	997	3	TACR3	4	104640413	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	27852939	104640413	86513863	80	5663											
COL25A1	84570	broad.mit.edu	37	chr4	110221776	110221776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaaggtgcttctcttgcGattcttattttagccatatg	8	8	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:110221776G>A	ENST00000399132.1	-	3	860	c.330C>T	c.(328-330)atC>atT	p.I110I	COL25A1_ENST00000399126.1_Silent_p.I110I|COL25A1_ENST00000399127.1_Silent_p.I110I|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTCTCTTGCGATTCTTATTT	0.388																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(328-330)atC>atT		collagen, type XXV, alpha 1							191	170	176					4																	110221776		1848	4104	5952	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110221776G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.330C>T	4.37:g.110221776G>A						COL25A1_ENST00000399126.1_Silent_p.I110I|COL25A1_ENST00000399127.1_Silent_p.I110I	p.I110I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	3	860	-		Hepatocellular(203;0.217)	110						Silent	SNP	ENST00000399132.1	37	c.330C>T	CCDS43258.1																																																																																				0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		12	249	0	0	0	1	0	12	249					A	110221776	G	A	110221776	2	1	47	1	0	0	0	0	0	0	0	1	3693	1048	37	1		1	COL25A1	4	110221776	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5581363	110221776	80932500	81	5664											
GRIA2	2891	broad.mit.edu	37	chr4	158262587	158262587	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attgcttatggaacattagaCtctggctccactaaagagtt	8	8	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:158262587C>G	ENST00000264426.9	+	12	2295	c.2016C>G	c.(2014-2016)gaC>gaG	p.D672E	GRIA2_ENST00000507898.1_Missense_Mutation_p.D625E|GRIA2_ENST00000449365.1_Missense_Mutation_p.D625E|GRIA2_ENST00000296526.7_Missense_Mutation_p.D672E|GRIA2_ENST00000393815.2_Missense_Mutation_p.D625E	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	672					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAACATTAGACTCTGGCTCCA	0.398																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2014-2016)gaC>gaG		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						134	130	132					4																	158262587		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158262587C>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2016C>G	4.37:g.158262587C>G	ENSP00000264426:p.Asp672Glu					GRIA2_ENST00000393815.2_Missense_Mutation_p.D625E|GRIA2_ENST00000264426.9_Missense_Mutation_p.D672E|GRIA2_ENST00000449365.1_Missense_Mutation_p.D625E|GRIA2_ENST00000507898.1_Missense_Mutation_p.D625E	p.D672E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	12	2341	+	all_hematologic(180;0.24)	Renal(120;0.0458)	672					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2016C>G	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767205|1.767205	0.31320|0.31320	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.53|5.53	3.81|3.81	0.43845|0.43845	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.02286|0.02286	-0.61|-0.61	0.53005|0.53005	D|D	0.999962|0.999962	D;D;D|.	0.71674|.	0.964;0.998;0.997|.	P;D;D|.	0.81914|.	0.605;0.995;0.992|.	T|T	0.04440|0.04440	-1.0951|-1.0951	10|5	0.11794|.	T|.	0.64|.	.|.	7.1096|7.1096	0.25382|0.25382	0.0:0.6242:0.0:0.3758|0.0:0.6242:0.0:0.3758	.|.	672;672;625|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	E|V	625;625;672;672;625|3	ENSP00000426845:D625E;ENSP00000377403:D625E;ENSP00000296526:D672E;ENSP00000264426:D672E;ENSP00000389837:D625E|.	ENSP00000264426:D672E|.	D|L	+|+	3|1	2|0	GRIA2|GRIA2	158482037|158482037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.058000|2.058000	0.41374|0.41374	0.812000|0.812000	0.34326|0.34326	-0.137000|-0.137000	0.14449|0.14449	GAC|CTC		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			8	562	0	0	0	1	0	8	562					G	158262587	C	G	158262587	3	3	47	1	0	0	0	0	1	0	0	0	6798	564	20	5	2062	5	GRIA2	4	158262587	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	48040811	158262587	32891689	82	5665											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	Intron	DEL	GCT	GCT	-													ccaagcgcatggaaagacacGctgctgctgctgctgtccaa					rs370831945		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				FAM198B_ENST00000585682.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A|FAM198B_ENST00000592057.1_3'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		7	339						7	339	---	---	---	---	-	159091489	GCT	-	159091487	6	5	47	0	1	1	0	1	0	0	0	0	5550	1087	38	0		0	FAM198B	4	159091487	Intron	DEL	GCT	TCGA-FB-AAPP-01A-12D-A40W-08	828900	159091487	32062789	83	5666											
ADAM29	11086	broad.mit.edu	37	chr4	175897739	175897739	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcacaacctagatgcAtaatgcatgaaggcaaccca	8	10	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:175897739A>C	ENST00000359240.3	+	5	1733	c.1063A>C	c.(1063-1065)Ata>Cta	p.I355L	ADAM29_ENST00000404450.4_Missense_Mutation_p.I355L|ADAM29_ENST00000445694.1_Missense_Mutation_p.I355L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.I355L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCTAGATGCATAATGCATGA	0.383																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1063-1065)Ata>Cta		ADAM metallopeptidase domain 29							135	131	132					4																	175897739		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897739A>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1063A>C	4.37:g.175897739A>C	ENSP00000352177:p.Ile355Leu					ADAM29_ENST00000514159.1_Missense_Mutation_p.I355L|ADAM29_ENST00000404450.4_Missense_Mutation_p.I355L|ADAM29_ENST00000445694.1_Missense_Mutation_p.I355L	p.I355L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1733	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	355			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1063A>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.051005	0.36181	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.6	-2.98	0.05513	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.34223	U	0.004153	T	0.62938	0.2469	M	0.75264	2.295	0.09310	N	1	B	0.26602	0.154	B	0.36608	0.229	T	0.54768	-0.8244	9	.	.	.	.	1.1175	0.01718	0.4255:0.1445:0.098:0.332	.	355	Q9UKF5	ADA29_HUMAN	L	355	ENSP00000352177:I355L;ENSP00000414544:I355L;ENSP00000384229:I355L;ENSP00000423517:I355L	.	I	+	1	0	ADAM29	176134314	0.013000	0.17824	0.004000	0.12327	0.024000	0.10985	-0.038000	0.12144	-0.459000	0.07013	0.472000	0.43445	ATA		0.383	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				127	464	0	0	0	1	0	127	464					C	175897739	A	C	175897739	3	2	47	1	0	0	0	0	1	0	0	0	247	217	8	4	1065	4	ADAM29	4	175897739	Missense_Mutation	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	16806252	175897739	15256537	84	5667											
C4orf41	60684	broad.mit.edu	37	chr4	184598641	184598641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcctataatcttgtacaCgaattgagagcccatgaaac	7	11	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:184598641C>T	ENST00000334690.6	+	8	967	c.765C>T	c.(763-765)caC>caT	p.H255H	TRAPPC11_ENST00000357207.4_Silent_p.H255H|TRAPPC11_ENST00000511409.1_3'UTR|RNU6-335P_ENST00000364563.1_RNA	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	255					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATCTTGTACACGAATTGAGAG	0.323																																						ENST00000334690.6																			0											c.(763-765)caC>caT		trafficking protein particle complex 11							89	101	97					4																	184598641		2203	4297	6500	SO:0001819	synonymous_variant	60684							g.chr4:184598641C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.765C>T	4.37:g.184598641C>T						TRAPPC11_ENST00000357207.4_Silent_p.H255H|TRAPPC11_ENST00000511409.1_3'UTR	p.H255H	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			8	967	+			255					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.765C>T	CCDS34112.1																																																																																				0.323	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		19	646	0	0	0	1	0	19	646					T	184598641	C	T	184598641	2	4	47	1	0	0	0	0	0	0	0	1	2277	535	19	1		1	C4orf41	4	184598641	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8700902	184598641	6555635	85	5668											
UFSP2	55325	broad.mit.edu	37	chr4	186336369	186336370	+	Frame_Shift_Ins	INS	-	-	T													gatatgaaattgttacaagaINSttttttttccctggtaataa							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:186336369_186336370insT	ENST00000264689.6	-	6	739_740	c.623_624insA	c.(622-624)aatfs	p.N208fs	UFSP2_ENST00000502282.1_5'Flank|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	208						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTGTTACAAGATTTTTTTTCCC	0.342																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(622-624)actfs		UFM1-specific peptidase 2																																				SO:0001589	frameshift_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186336369_186336370insT	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.624dupA	4.37:g.186336377_186336377dupT	ENSP00000264689:p.Asn208fs						p.T208fs	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	6	739_740	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	208					Q6IA77|Q96FS3	Frame_Shift_Ins	INS	ENST00000264689.6	37	c.623_624insA	CCDS3842.1																																																																																				0.342	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		110	215						110	215	---	---	---	---	T	186336370	-	T	186336369	7	5	47	1	0	1	1	0	0	0	0	0	16992	330	12	0	813	0	UFSP2	4	186336369	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	1737728	186336369	4817907	86	5669											
KLKB1	3818	broad.mit.edu	37	chr4	187172778	187172778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttttcacttattctttaCtcccagaagactgtaaggaa	6	8	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:187172778C>T	ENST00000264690.6	+	9	1193	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	KLKB1_ENST00000513864.1_Missense_Mutation_p.L336F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	336	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTATTCTTTACTCCCAGAAGA	0.368																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1006-1008)Ctc>Ttc		kallikrein B, plasma (Fletcher factor) 1							84	91	88					4																	187172778		2195	4297	6492	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187172778C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1006C>T	4.37:g.187172778C>T	ENSP00000264690:p.Leu336Phe					KLKB1_ENST00000513864.1_Missense_Mutation_p.L336F	p.L336F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	9	1193	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	336			Apple 4.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1006C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.230060	0.01518	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.88896	-2.44;-2.44	5.07	2.37	0.29283	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.331044	0.26345	N	0.024913	T	0.75796	0.3898	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15141	0.012;0.005;0.007	B;B;B	0.15484	0.012;0.013;0.012	T	0.55276	-0.8166	10	0.09843	T	0.71	.	2.2207	0.03971	0.1213:0.4321:0.2365:0.2101	.	298;336;336	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	F	336;336;298	ENSP00000264690:L336F;ENSP00000424469:L336F	ENSP00000264690:L336F	L	+	1	0	KLKB1	187409772	0.000000	0.05858	0.250000	0.24296	0.109000	0.19521	0.094000	0.15107	0.251000	0.21505	-0.187000	0.12897	CTC		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		41	374	0	0	0	1	0	41	374					T	187172778	C	T	187172778	3	4	47	1	0	0	0	0	1	0	0	0	8442	565	20	2	1036	2	KLKB1	4	187172778	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	836409	187172778	3981498	87	5670											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161924	161924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagaaaggactacagctGgcgaaggagaacccgcaacg	13	11	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:161924G>A	ENST00000283426.6	+	10	1496	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	482							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACTACAGCTGGCGAAGGAGA	0.582																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1444-1446)ctG>ctA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							86	81	83					5																	161924		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161924G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1446G>A	5.37:g.161924G>A							p.L482L	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1496	+			482						Silent	SNP	ENST00000283426.6	37	c.1446G>A	CCDS34124.1																																																																																				0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		46	199	0	0	0	1	0	46	199					A	161924	G	A	161924	2	1	47	1	0	0	0	0	0	0	0	1	12114	1335	47	2		2	PLEKHG4B	5	161924	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		161924	180753336	88	5671											
SLC9A3	6550	broad.mit.edu	37	chr5	476448	476448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttcccggtcctgtttctCgtcctccgtgggcgtgagct	12	13	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:476448C>T	ENST00000264938.3	-	13	1945	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	646	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTTTCTCGTCCTCCGTG	0.612																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1936-1938)Gag>Aag		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							126	122	124					5																	476448		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476448C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1936G>A	5.37:g.476448C>T	ENSP00000264938:p.Glu646Lys					CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K|CTD-2228K2.7_ENST00000607286.1_RNA	p.E646K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	1945	-			646			Interaction with PDZD3 (By similarity).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1936G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887031	0.33348	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.78364	-1.17;-1.17	4.85	2.92	0.33932	.	0.388826	0.18173	U	0.149386	T	0.71451	0.3341	M	0.82716	2.605	0.26426	N	0.976025	P;P	0.43750	0.816;0.614	B;B	0.30495	0.116;0.038	T	0.66337	-0.5949	10	0.44086	T	0.13	.	7.8652	0.29533	0.0:0.749:0.162:0.0891	.	637;646	E9PF67;P48764	.;SL9A3_HUMAN	K	646;637	ENSP00000264938:E646K;ENSP00000422983:E637K	ENSP00000264938:E646K	E	-	1	0	SLC9A3	529448	0.044000	0.20184	0.120000	0.21714	0.070000	0.16714	1.487000	0.35540	1.025000	0.39708	0.467000	0.42956	GAG		0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		106	426	0	0	0	1	0	106	426					T	476448	C	T	476448	3	4	47	1	0	0	0	0	1	0	0	0	14763	893	31	1	588	1	SLC9A3	5	476448	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	314524	476448	180438812	89	5672											
TAS2R1	50834	broad.mit.edu	37	chr5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacaggatagacagcaacGcgctgatgggtgcacccctg	14	11	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:9629468G>A	ENST00000382492.2	-	1	995	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)gCg>gTg		taste receptor, type 2, member 1							64	72	70					5																	9629468		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629468G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.677C>T	5.37:g.9629468G>A	ENSP00000371932:p.Ala226Val					CTD-2001E22.1_ENST00000504182.2_RNA	p.A226V	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	995	-			226					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.677C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811842	0.70797	.	.	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	5.55	0.83447	.	0.147373	0.43919	D	0.000501	T	0.09069	0.0224	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.08249	-1.0731	9	.	.	.	.	10.2602	0.43423	0.0868:0.0:0.9132:0.0	.	226	Q9NYW7	TA2R1_HUMAN	V	226	ENSP00000371932:A226V	.	A	-	2	0	TAS2R1	9682468	0.033000	0.19621	0.008000	0.14137	0.001000	0.01503	2.375000	0.44283	2.894000	0.99253	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			6	256	0	0	0	1	0	6	256					A	9629468	G	A	9629468	3	1	47	1	0	0	0	0	1	0	0	0	15617	1087	38	1	226	1	TAS2R1	5	9629468	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9153020	9629468	171285792	90	5673											
DNAH5	1767	broad.mit.edu	37	chr5	13700762	13700762	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttactattgttttctgcAtaaatccttatgacaggcat	5	8	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:13700762A>G	ENST00000265104.4	-	78	13814	c.13710T>C	c.(13708-13710)taT>taC	p.Y4570Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4570					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTTTCTGCATAAATCCTTA	0.378									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13708-13710)taT>taC		dynein, axonemal, heavy chain 5							157	152	154					5																	13700762		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700762A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13710T>C	5.37:g.13700762A>G							p.Y4570Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13814	-	Lung NSC(4;0.00476)		4570					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.13710T>C	CCDS3882.1																																																																																				0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	594	0	0	0	1	0	6	594					G	13700762	A	G	13700762	2	3	47	1	0	0	0	0	0	0	0	1	4620	224	8	4		4	DNAH5	5	13700762	Silent	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	4071294	13700762	167214498	91	5674											
CDH18	1016	broad.mit.edu	37	chr5	19473538	19473538	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggaacgctagggtctaggtCtgcttctgccagtctttgct	13	10	4	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:19473538C>A	ENST00000507958.1	-	15	3160	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.D724Y|CDH18_ENST00000382275.1_Missense_Mutation_p.D724Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	724					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)			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)					GGGTCTAGGTCTGCTTCTGCC	0.483																																						ENST00000507958.1																			0				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						c.(2170-2172)Gac>Tac		cadherin 18, type 2							190	175	180					5																	19473538		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473538C>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.2170G>T	5.37:g.19473538C>A	ENSP00000425093:p.Asp724Tyr					CDH18_ENST00000274170.4_Missense_Mutation_p.D724Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D724Y	p.D724Y			Q13634	CAD18_HUMAN			15	3160	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		724					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2170G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985501	0.74589	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.81821	-1.54;-1.54;-1.54	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.95043	3.615	0.58432	D	0.999994	D	0.89917	1.0	D	0.80764	0.994	D	0.94374	0.7598	9	.	.	.	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	724	Q13634	CAD18_HUMAN	Y	724	ENSP00000371710:D724Y;ENSP00000425093:D724Y;ENSP00000274170:D724Y	.	D	-	1	0	CDH18	19509295	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.045000	0.71020	2.861000	0.98227	0.650000	0.86243	GAC		0.483	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		8	267	1	0	0.0381472	1	0.0382498	8	267					A	19473538	C	A	19473538	3	1	47	1	0	0	0	0	1	0	0	0	3112	913	32	3	206	3	CDH18	5	19473538	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	5772776	19473538	161441722	92	5675											
CDH9	1007	broad.mit.edu	37	chr5	26881445	26881445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgcacttgggtctgcgtCgttttcttttaatcttcgat	10	8	3	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:26881445C>T	ENST00000231021.4	-	12	2342	c.2170G>A	c.(2170-2172)Gac>Aac	p.D724N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	724					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)			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						GGGTCTGCGTCGTTTTCTTTT	0.418																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(2170-2172)Gac>Aac		cadherin 9, type 2 (T1-cadherin)							154	146	149					5																	26881445		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881445C>T	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.2170G>A	5.37:g.26881445C>T	ENSP00000231021:p.Asp724Asn						p.D724N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2342	-			724					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2170G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065780	0.76187	.	.	ENSG00000113100	ENST00000231021	T	0.80653	-1.4	5.06	5.06	0.68205	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.55800	0.938;0.973	P;P	0.51297	0.665;0.665	D	0.87474	0.2416	9	.	.	.	.	17.3627	0.87355	0.0:1.0:0.0:0.0	.	317;724	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	724	ENSP00000231021:D724N	.	D	-	1	0	CDH9	26917202	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.750000	0.85110	2.504000	0.84457	0.557000	0.71058	GAC		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		27	458	0	0	0	1	0	27	458					T	26881445	C	T	26881445	3	4	47	1	0	0	0	0	1	0	0	0	3126	884	31	1	203	1	CDH9	5	26881445	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	7407907	26881445	154033815	93	5676											
RXFP3	51289	broad.mit.edu	37	chr5	33937967	33937967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatacgcgttccctgtgagCgtgtgcctagcgcactccaa	11	13	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCCCTGTGAGCGTGTGCCTAG	0.622																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1120-1122)agC>agT		relaxin/insulin-like family peptide receptor 3							109	109	109					5																	33937967		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937967C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1122C>T	5.37:g.33937967C>T							p.S374S	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1477	+			374					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1122C>T	CCDS3900.1																																																																																				0.622	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		27	527	0	0	0	1	0	27	527					T	33937967	C	T	33937967	2	4	47	1	0	0	0	0	0	0	0	1	13811	767	27	1		1	RXFP3	5	33937967	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	7056522	33937967	146977293	94	5677											
HEATR7B2	133558	broad.mit.edu	37	chr5	40999870	40999870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatccacagaatttcctgGtttttcttggcctagaagag	10	8	1	3	rs201575411		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:40999870G>T	ENST00000399564.4	-	40	4944	c.4494C>A	c.(4492-4494)aaC>aaA	p.N1498K	MROH2B_ENST00000506092.2_Missense_Mutation_p.N1053K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1498																	GAATTTCCTGGTTTTTCTTGG	0.468																																						ENST00000399564.4																			0											c.(4492-4494)aaC>aaA		maestro heat-like repeat family member 2B							183	182	182					5																	40999870		1875	4111	5986	SO:0001583	missense	133558							g.chr5:40999870G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4494C>A	5.37:g.40999870G>T	ENSP00000382476:p.Asn1498Lys					MROH2B_ENST00000506092.2_Missense_Mutation_p.N1053K	p.N1498K	NM_173489.4	NP_775760.3					40	4944	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4494C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525910	0.44969	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64438	-0.1;-0.1	4.95	3.15	0.36227	Armadillo-like helical (1);Armadillo-type fold (1);	0.229493	0.30686	N	0.009091	T	0.56891	0.2016	N	0.25144	0.715	0.25604	N	0.986566	D	0.62365	0.991	P	0.58520	0.84	T	0.46233	-0.9206	10	0.28530	T	0.3	.	7.7749	0.29030	0.1857:0.0:0.8143:0.0	.	1498	Q7Z745	HTRB2_HUMAN	K	1053;1203;1498	ENSP00000441504:N1053K;ENSP00000382476:N1498K	ENSP00000296803:N1203K	N	-	3	2	HEATR7B2	41035627	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.650000	0.24858	0.649000	0.30751	0.655000	0.94253	AAC		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	320	1	0	5.68852e-11	1	6.13243e-11	8	320					T	40999870	G	T	40999870	3	4	47	1	0	0	0	0	1	0	0	0	7065	1252	44	3	275	3	HEATR7B2	5	40999870	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7061903	40999870	139915390	95	5678											
PIK3R1	5295	broad.mit.edu	37	chr5	67589652	67589652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatatgaagaatatacccGcacatcccaggtgagttttc	7	9	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:67589652G>A	ENST00000521381.1	+	11	2031	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	PIK3R1_ENST00000521657.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R202H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R472H|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R172H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R109H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	472					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D434_Q475del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAATATACCCGCACATCCCAG	0.279			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.D434_Q475del(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1414-1416)cGc>cAc		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						40	43	42					5																	67589652		2184	4262	6446	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589652G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1415G>A	5.37:g.67589652G>A	ENSP00000428056:p.Arg472His	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Missense_Mutation_p.R202H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R109H|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R472H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R172H|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R472H	p.R472H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2031	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	472					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1415G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289331	0.95517	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.82711	-0.52;-0.52;-0.39;-0.52;-1.52;0.82;-1.53;0.38;-1.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;0.999;1.0	P;P;P;D	0.68621	0.551;0.806;0.738;0.959	D	0.91021	0.4857	10	0.51188	T	0.08	-11.0248	19.0691	0.93125	0.0:0.0:1.0:0.0	.	142;202;172;472	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	H	472;472;472;472;172;109;202;145;109	ENSP00000428056:R472H;ENSP00000429277:R472H;ENSP00000379855:R472H;ENSP00000274335:R472H;ENSP00000323512:R172H;ENSP00000431058:R109H;ENSP00000338554:R202H;ENSP00000429156:R145H;ENSP00000430098:R109H	ENSP00000274335:R472H	R	+	2	0	PIK3R1	67625408	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.208000	0.95075	2.822000	0.97130	0.650000	0.86243	CGC		0.279	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		5	379	0	0	0	1	0	5	379					A	67589652	G	A	67589652	3	1	47	1	0	0	0	0	1	0	0	0	11960	1087	38	1	1583	1	PIK3R1	5	67589652	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	26589782	67589652	113325608	96	5679											
RAD17	5884	broad.mit.edu	37	chr5	68709938	68709938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagcccagcttaatggagGacattctgcagaggaatctc	11	9	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:68709938G>A	ENST00000509734.1	+	18	2543	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	RAD17_ENST00000305138.4_Missense_Mutation_p.G611E|RAD17_ENST00000282891.6_Missense_Mutation_p.G525E|RAD17_ENST00000345306.6_Missense_Mutation_p.G611E|RAD17_ENST00000354312.3_Missense_Mutation_p.G611E|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000361732.2_Missense_Mutation_p.G611E|MARVELD2_ENST00000325631.5_5'Flank|RAD17_ENST00000521422.1_Missense_Mutation_p.G446E|RAD17_ENST00000380774.3_Missense_Mutation_p.G622E|RAD17_ENST00000358030.2_Missense_Mutation_p.G446E|RAD17_ENST00000354868.5_Missense_Mutation_p.G611E			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	622	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTTAATGGAGGACATTCTGCA	0.507								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1864-1866)gGa>gAa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							109	107	107					5																	68709938		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68709938G>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1865G>A	5.37:g.68709938G>A	ENSP00000426191:p.Gly622Glu					RAD17_ENST00000345306.6_Missense_Mutation_p.G611E|RAD17_ENST00000354868.5_Missense_Mutation_p.G611E|RAD17_ENST00000521422.1_Missense_Mutation_p.G446E|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.G611E|RAD17_ENST00000358030.2_Missense_Mutation_p.G446E|RAD17_ENST00000305138.4_Missense_Mutation_p.G611E|RAD17_ENST00000282891.6_Missense_Mutation_p.G525E|RAD17_ENST00000361732.2_Missense_Mutation_p.G611E|RAD17_ENST00000380774.3_Missense_Mutation_p.G622E	p.G622E			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	18	2543	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	622			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1865G>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	0.489	-0.876036	0.02550	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.21361	2.33;2.33;2.33;2.01;2.33;2.33;2.33;2.01;2.01;2.33	5.35	1.21	0.21127	.	0.806755	0.11568	N	0.551030	T	0.18173	0.0436	L	0.60455	1.87	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.16289	0.006;0.008;0.015	T	0.32851	-0.9891	10	0.56958	D	0.05	-4.2349	2.3853	0.04364	0.2559:0.1365:0.482:0.1257	.	622;525;611	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	E	611;622;611;446;611;611;611;525;446;622	ENSP00000355226:G611E;ENSP00000426191:G622E;ENSP00000346938:G611E;ENSP00000427743:G446E;ENSP00000346271:G611E;ENSP00000311227:G611E;ENSP00000303134:G611E;ENSP00000282891:G525E;ENSP00000350725:G446E;ENSP00000370151:G622E	ENSP00000282891:G525E	G	+	2	0	RAD17	68745694	0.000000	0.05858	0.075000	0.20258	0.072000	0.16883	-0.461000	0.06712	0.249000	0.21456	0.655000	0.94253	GGA		0.507	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		6	624	0	0	0	1	0	6	624					A	68709938	G	A	68709938	3	1	47	1	0	0	0	0	1	0	0	0	13029	1174	41	2	1940	2	RAD17	5	68709938	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1120286	68709938	112205322	97	5680											
MAP1B	4131	broad.mit.edu	37	chr5	71490089	71490089	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcatccgacacttagacCgagtggactccatcctgctc	8	15	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:71490089C>T	ENST00000296755.7	+	5	1205	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	303					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACACTTAGACCGAGTGGACTC	0.483																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(907-909)Cga>Tga		microtubule-associated protein 1B							85	87	86					5																	71490089		2203	4300	6503	SO:0001587	stop_gained	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490089C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.907C>T	5.37:g.71490089C>T	ENSP00000296755:p.Arg303*						p.R303*	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1205	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	303					A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	c.907C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212973	0.79352	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	.	.	.	6.07	3.3	0.37823	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2135	15.6831	0.77388	0.6335:0.3665:0.0:0.0	.	.	.	.	X	303;320;177	.	ENSP00000296755:R303X	R	+	1	2	MAP1B	71525845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.210000	0.32370	0.426000	0.26116	0.585000	0.79938	CGA		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		238	261	0	0	0	1	0	238	261					T	71490089	C	T	71490089	4	4	47	1	0	0	0	0	0	1	0	0	9269	644	23	1	925	1	MAP1B	5	71490089	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	2780151	71490089	109425171	98	5681											
RASGRF2	5924	broad.mit.edu	37	chr5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccagatccgttatgCcagcgtggagcgcctcttgg	13	13	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1924-1926)gCc>gTc		Ras protein-specific guanine nucleotide-releasing factor 2							195	191	193					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val						p.A642V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1992	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		6	987	0	0	0	1	0	6	987					T	80408515	C	T	80408515	3	4	47	1	0	0	0	0	1	0	0	0	13123	739	26	2	1979	2	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8918426	80408515	100506745	99	5682											
PCDHA4	56144	broad.mit.edu	37	chr5	140188137	140188137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgacaacgctccggcgttCgcgcagcccgagtacacagt	11	15	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140188137C>T	ENST00000530339.1	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.F455F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCGTTCGCGCAGCCCG	0.657																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1363-1365)ttC>ttT									69	71	70					5																	140188137		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188137C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1365C>T	5.37:g.140188137C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.F455F	p.F455F	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1365	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1365C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	363	0	0	0	1	0	8	363					T	140188137	C	T	140188137	2	4	47	1	0	0	0	0	0	0	0	1	11568	883	31	1		1	PCDHA4	5	140188137	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	59779622	140188137	40727123	100	5683											
PCDHA13	56136	broad.mit.edu	37	chr5	140263647	140263647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaggtgcgcgcggtggaCgccgattcgggctacaatgc	17	11	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140263647C>T	ENST00000289272.2	+	1	1794	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D598D|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGTGGACGCCGATTCGG	0.692																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1792-1794)gaC>gaT									66	71	69					5																	140263647		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140263647C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1794C>T	5.37:g.140263647C>T						PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D598D|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.D598D	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1794	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1794C>T	CCDS4240.1																																																																																				0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	541	0	0	0	1	0	12	541					T	140263647	C	T	140263647	2	4	47	1	0	0	0	0	0	0	0	1	11565	535	19	1		1	PCDHA13	5	140263647	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	75510	140263647	40651613	101	5684											
PCDHB7	56129	broad.mit.edu	37	chr5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgcggctcccggaggCggccccggaccaggccaact	13	18	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2026-2028)gCg>gTg									48	79	68					5																	140554443		2185	4283	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554443C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val						p.A676V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2201	+			676					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2027C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		31	410	0	0	0	1	0	31	410					T	140554443	C	T	140554443	3	4	47	1	0	0	0	0	1	0	0	0	11589	768	27	1	2029	1	PCDHB7	5	140554443	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	290796	140554443	40360817	102	5685											
PCDHB16	57717	broad.mit.edu	37	chr5	140563751	140563751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagaccgcggctccccGgctttgagcagcgaggcgct	14	16	0	2	rs17844655	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140563751G>A	ENST00000361016.2	+	1	2772	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCTTTGAGCA	0.682																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1615-1617)ccG>ccA									22	25	24					5																	140563751		1817	3313	5130	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563751G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1617G>A	5.37:g.140563751G>A							p.P539P	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2772	+			539			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1617G>A	CCDS4251.1																																																																																				0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		49	171	0	0	0	1	0	49	171					A	140563751	G	A	140563751	2	1	47	1	0	0	0	0	0	0	0	1	11583	1103	39	1		1	PCDHB16	5	140563751	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9308	140563751	40351509	103	5686											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712187	140712187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagtctcgtggtggccGtccaggaccacggccagccc	14	15	1	1	rs577475018	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140712187G>A	ENST00000517417.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V646I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.706													g|||	2	0.000399361	0.0	0.0	5008	,	,		14525	0.001		0.001	False		,,,				2504	0.0					ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1936-1938)Gtc>Atc									37	44	42					5																	140712187		2200	4297	6497	SO:0001583	missense	0							g.chr5:140712187G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1936G>A	5.37:g.140712187G>A	ENSP00000431083:p.Val646Ile					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V646I	p.V646I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1936G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742092	0.69418	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.61510	0.1;0.1	3.73	2.86	0.33363	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000457	T	0.63908	0.2551	M	0.70787	2.145	0.24417	N	0.994634	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.537	T	0.59257	-0.7488	10	0.66056	D	0.02	.	11.2133	0.48813	0.0926:0.0:0.9074:0.0	.	646;646	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	646	ENSP00000431083:V646I;ENSP00000367345:V646I	ENSP00000367345:V646I	V	+	1	0	PCDHGA1	140692371	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.402000	0.73260	0.920000	0.36970	0.580000	0.79431	GTC		0.706	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		8	291	0	0	0	1	0	8	291					A	140712187	G	A	140712187	3	1	47	1	0	0	0	0	1	0	0	0	11592	1145	40	1	1938	1	PCDHGA1	5	140712187	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	148436	140712187	40203073	104	5687											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720485	140720485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggccatccaggaccaCggccagccccctctctccgc	11	19	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140720485C>T	ENST00000394576.2	+	1	1947	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.706																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1945-1947)caC>caT									49	58	54					5																	140720485		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140720485C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1947C>T	5.37:g.140720485C>T						PCDHGA1_ENST00000517417.1_Intron	p.H649H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1947	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1947C>T	CCDS47289.1																																																																																				0.706	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		32	812	0	0	0	1	0	32	812					T	140720485	C	T	140720485	2	4	47	1	0	0	0	0	0	0	0	1	11596	535	19	1		1	PCDHGA2	5	140720485	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8298	140720485	40194775	105	5688											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734992	140734992	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggtaggacgcagcttttCgccctgaacccgcgcagcgg	14	13	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140734992C>T	ENST00000571252.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAACC	0.637																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(223-225)ttC>ttT									51	61	57					5																	140734992		2185	4297	6482	SO:0001819	synonymous_variant	0							g.chr5:140734992C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.225C>T	5.37:g.140734992C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.F75F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	225	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.225C>T	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		11	532	0	0	0	1	0	11	532					T	140734992	C	T	140734992	2	4	47	1	0	0	0	0	0	0	0	1	11598	883	31	1		1	PCDHGA4	5	140734992	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	14507	140734992	40180268	106	5689											
ARHGEF37	389337	broad.mit.edu	37	chr5	149011717	149011717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcttggccagggctcGgagcccagttctgtggggct	16	11	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:149011717G>A	ENST00000333677.6	+	13	2154	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	664	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCCAGGGCTCGGAGCCCAGTT	0.592																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1990-1992)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 37							75	77	76					5																	149011717		1896	4122	6018	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011717G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1991G>A	5.37:g.149011717G>A	ENSP00000328083:p.Arg664Gln						p.R664Q	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	2154	+			664			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1991G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126923	0.20959	.	.	ENSG00000183111	ENST00000333677	T	0.67698	-0.28	5.44	2.68	0.31781	Src homology-3 domain (3);	0.151476	0.64402	N	0.000010	T	0.39462	0.1079	N	0.04787	-0.16	0.19945	N	0.999946	B	0.06786	0.001	B	0.01281	0.0	T	0.26503	-1.0101	10	0.56958	D	0.05	.	4.3428	0.11119	0.1298:0.6034:0.1266:0.1402	.	664	A1IGU5	ARH37_HUMAN	Q	664	ENSP00000328083:R664Q	ENSP00000328083:R664Q	R	+	2	0	ARHGEF37	148991910	0.011000	0.17503	0.036000	0.18154	0.004000	0.04260	0.573000	0.23699	0.276000	0.22118	-0.783000	0.03347	CGG		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		11	264	0	0	0	1	0	11	264					A	149011717	G	A	149011717	3	1	47	1	0	0	0	0	1	0	0	0	906	1116	39	1	2037	1	ARHGEF37	5	149011717	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	8276725	149011717	31903543	107	5690											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	566						8	566	---	---	---	---	A	162917426	-	A	162917425	7	5	47	1	0	1	1	0	0	0	0	0	7272	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	13905708	162917425	17997835	108	5691											
ODZ2	57451	broad.mit.edu	37	chr5	167625947	167625947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgcactgtgtggctgcCgtggaacagcttttacgcca	14	11	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:167625947C>T	ENST00000518659.1	+	16	3029	c.2990C>T	c.(2989-2991)cCg>cTg	p.P997L	TENM2_ENST00000545108.1_Missense_Mutation_p.P997L|TENM2_ENST00000403607.2_Missense_Mutation_p.P821L|TENM2_ENST00000519204.1_Missense_Mutation_p.P876L|TENM2_ENST00000520394.1_Missense_Mutation_p.P765L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	997					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGTGGCTGCCGTGGAACAGC	0.572																																						ENST00000519204.1																			0											c.(2626-2628)cCg>cTg		teneurin transmembrane protein 2							74	80	78					5																	167625947		2100	4222	6322	SO:0001583	missense	57451							g.chr5:167625947C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2990C>T	5.37:g.167625947C>T	ENSP00000429430:p.Pro997Leu					TENM2_ENST00000545108.1_Missense_Mutation_p.P997L|TENM2_ENST00000403607.2_Missense_Mutation_p.P821L|TENM2_ENST00000518659.1_Missense_Mutation_p.P997L|TENM2_ENST00000520394.1_Missense_Mutation_p.P765L	p.P876L							15	2745	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2627C>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640948	0.87859	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.52	5.52	0.82312	Carboxypeptidase-like, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.83275	0.935;0.862;0.996	T	0.52697	-0.8541	10	0.87932	D	0	.	19.4325	0.94776	0.0:1.0:0.0:0.0	.	997;997;765	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	997;997;876;765;821	ENSP00000429430:P997L;ENSP00000438635:P997L;ENSP00000428964:P876L;ENSP00000427874:P765L;ENSP00000384905:P821L	ENSP00000384905:P821L	P	+	2	0	ODZ2	167558525	1.000000	0.71417	0.957000	0.39632	0.935000	0.57460	7.811000	0.86092	2.593000	0.87608	0.563000	0.77884	CCG		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	286	0	0	0	1	0	9	286					T	167625947	C	T	167625947	3	4	47	1	0	0	0	0	1	0	0	0	10877	652	23	1	3025	1	ODZ2	5	167625947	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	4708522	167625947	13289313	109	5692											
SLIT3	6586	broad.mit.edu	37	chr5	168098211	168098211	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggacactgacctgtggccGaggcaggggtcccgggcctc	17	13	0	1	rs531041335		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:168098211G>A	ENST00000519560.1	-	34	4538	c.4119C>T	c.(4117-4119)ctC>ctT	p.L1373L	SLIT3_ENST00000404867.3_Silent_p.L1373L|SLIT3_ENST00000332966.8_Silent_p.L1380L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1373	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			ACCTGTGGCCGAGGCAGGGGT	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(4117-4119)ctC>ctT		slit homolog 3 (Drosophila)							21	23	22					5																	168098211		2178	4273	6451	SO:0001819	synonymous_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.chr5:168098211G>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.4119C>T	5.37:g.168098211G>A						SLIT3_ENST00000332966.8_Silent_p.L1380L|SLIT3_ENST00000404867.3_Silent_p.L1373L	p.L1373L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	4538	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1373			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4119C>T	CCDS4369.1																																																																																				0.672	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		5	167	0	0	0	1	0	5	167					A	168098211	G	A	168098211	2	1	47	1	0	0	0	0	0	0	0	1	14791	1045	37	1		1	SLIT3	5	168098211	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	472264	168098211	12817049	110	5693											
SLIT3	6586	broad.mit.edu	37	chr5	168222582	168222582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagttctgttctaggcGtctgggaaacagagcagaga	15	6	3	2	rs143425660	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:168222582G>A	ENST00000519560.1	-	10	1356	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SLIT3_ENST00000404867.3_Splice_Site_p.R313C|SLIT3_ENST00000332966.8_Splice_Site_p.R313C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	313					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)			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)			TGTTCTAGGCGTCTGGGAAAC	0.512																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.e10-1		slit homolog 3 (Drosophila)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	138	131	134		937	5.2	1	5	dbSNP_134	134	5,8595	4.3+/-15.6	0,5,4295	yes	missense-near-splice	SLIT3	NM_003062.2	180	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	313/1524	168222582	6,13000	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.chr5:168222582G>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.936-1C>T	5.37:g.168222582G>A						SLIT3_ENST00000332966.8_Splice_Site_p.R313_splice|SLIT3_ENST00000404867.3_Splice_Site_p.R313_splice	p.R313_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1356	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	313					A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	c.935_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635517	0.87760	2.27E-4	5.81E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25414	1.8;1.8;1.8	5.18	5.18	0.71444	.	0.046523	0.85682	D	0.000000	T	0.48077	0.1480	L	0.52759	1.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.47787	-0.9090	10	0.87932	D	0	.	18.781	0.91932	0.0:0.0:1.0:0.0	.	313;313;313	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	C	313	ENSP00000430333:R313C;ENSP00000332164:R313C;ENSP00000384890:R313C	ENSP00000332164:R313C	R	-	1	0	SLIT3	168155160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.441000	0.90313	2.433000	0.82419	0.650000	0.86243	CGC		0.512	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Missense_Mutation	5	403	0	0	0	1	0	5	403					A	168222582	G	A	168222582	5	1	47	1	0	0	0	0	0	0	1	0	14791	1159	40	1	3742	1	SLIT3	5	168222582	Splice_Site	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	124371	168222582	12692678	111	5694											
ZNF454	285676	broad.mit.edu	37	chr5	178391963	178391963	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtagtgagtgtggaaaagtCttctctaagagttcaactct	10	6	4	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:178391963C>A	ENST00000320129.3	+	5	861	c.558C>A	c.(556-558)gtC>gtA	p.V186V	ZNF454_ENST00000519564.1_Silent_p.V186V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	186					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.V186V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGGAAAAGTCTTCTCTAAGA	0.343																																						ENST00000320129.3																			1	Substitution - coding silent(1)	p.V186V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(556-558)gtC>gtA		zinc finger protein 454							52	54	53					5																	178391963		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391963C>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.558C>A	5.37:g.178391963C>A						ZNF454_ENST00000519564.1_Silent_p.V186V	p.V186V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	861	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	186					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.558C>A	CCDS4441.1																																																																																				0.343	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		24	261	1	0	6.44725e-10	1	6.87093e-10	24	261					A	178391963	C	A	178391963	2	1	47	1	0	0	0	0	0	0	0	1	17976	900	32	3		3	ZNF454	5	178391963	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	10169381	178391963	2523297	112	5695											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552067	178552067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcattgcagtgcttggcGtgcacggagcgggtggtgtt	18	8	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2863-2865)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100	102	101					5																	178552067		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552067G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2865C>T	5.37:g.178552067G>A							p.H955H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2966	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	955			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2865C>T	CCDS4444.1																																																																																				0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		8	708	0	0	0	1	0	8	708					A	178552067	G	A	178552067	2	1	47	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552067	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	160104	178552067	2363193	113	5696											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	17	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105	102	103					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	9	550	0	0	0	1	0	9	550					A	179044053	G	A	179044053	5	1	47	1	0	0	0	0	0	0	1	0	7296	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	491986	179044053	1871207	114	5697											
MAML1	9794	broad.mit.edu	37	chr5	179193309	179193309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccacatggcagcagaCggggccctcccacagttcct	11	15	0	1	rs199501746		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:179193309C>T	ENST00000292599.3	+	2	1561	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGCAGACGGGGCCCTCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		15996	0.001		0.0	False		,,,				2504	0.0					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1297-1299)aCg>aTg		mastermind-like 1 (Drosophila)							76	89	84					5																	179193309		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193309C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1298C>T	5.37:g.179193309C>T	ENSP00000292599:p.Thr433Met					MAML1_ENST00000503050.1_3'UTR	p.T433M	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1561	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	433						Missense_Mutation	SNP	ENST00000292599.3	37	c.1298C>T	CCDS34315.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.05	2.121725	0.37436	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22134	1.97	4.74	4.74	0.60224	.	0.426911	0.23960	N	0.042874	T	0.20577	0.0495	N	0.08118	0	0.30089	N	0.808464	D;D	0.67145	0.996;0.988	P;B	0.53549	0.729;0.247	T	0.08289	-1.0729	10	0.38643	T	0.18	-0.8574	17.7022	0.88298	0.0:1.0:0.0:0.0	.	470;433	Q59GH4;Q92585	.;MAML1_HUMAN	M	433;470	ENSP00000292599:T433M	ENSP00000292599:T433M	T	+	2	0	MAML1	179125915	0.368000	0.25031	0.981000	0.43875	0.702000	0.40608	3.965000	0.56788	2.177000	0.69029	0.313000	0.20887	ACG		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		100	547	0	0	0	1	0	100	547					T	179193309	C	T	179193309	3	4	47	1	0	0	0	0	1	0	0	0	9246	536	19	1	1304	1	MAML1	5	179193309	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	149256	179193309	1721951	115	5698											
HIVEP1	3096	broad.mit.edu	37	chr6	12123822	12123822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcagttggccccagcGtagtgaaaccttgtcaaaat	10	9	2	1	rs368115054		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:12123822G>A	ENST00000379388.2	+	4	4126	c.3794G>A	c.(3793-3795)cGt>cAt	p.R1265H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGCCCCAGCGTAGTGAAACC	0.453																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3793-3795)cGt>cAt		human immunodeficiency virus type I enhancer binding protein 1		G	HIS/ARG	0,3802		0,0,1901	78	76	77		3794	6.1	1	6		77	2,8246		0,2,4122	no	missense	HIVEP1	NM_002114.2	29	0,2,6023	AA,AG,GG		0.0242,0.0,0.0166	probably-damaging	1265/2719	12123822	2,12048	1901	4124	6025	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123822G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3794G>A	6.37:g.12123822G>A	ENSP00000368698:p.Arg1265His						p.R1265H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4126	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1265					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3794G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136955	0.94517	0.0	2.42E-4	ENSG00000095951	ENST00000379388	T	0.61627	0.09	6.07	6.07	0.98685	.	0.000000	0.36628	N	0.002483	T	0.78349	0.4269	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78560	-0.2157	9	.	.	.	-22.7219	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1265	P15822	ZEP1_HUMAN	H	1265	ENSP00000368698:R1265H	.	R	+	2	0	HIVEP1	12231808	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	CGT		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		187	221	0	0	0	1	0	187	221					A	12123822	G	A	12123822	3	1	47	1	0	0	0	0	1	0	0	0	7216	1145	40	1	3804	1	HIVEP1	6	12123822	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		12123822	158991245	116	5699											
ALDH5A1	7915	broad.mit.edu	37	chr6	24515421	24515421	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaggctgggattccttcAggtgtatacaatgttattcc	10	9	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:24515421A>G	ENST00000357578.3	+	5	898	c.753A>G	c.(751-753)tcA>tcG	p.S251S	ALDH5A1_ENST00000546278.1_Silent_p.S163S|ALDH5A1_ENST00000491546.1_Silent_p.S223S|ALDH5A1_ENST00000348925.2_Silent_p.S264S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	251					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GGATTCCTTCAGGTGTATACA	0.378																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(751-753)tcA>tcG		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						137	130	132					6																	24515421		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515421A>G	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.753A>G	6.37:g.24515421A>G						ALDH5A1_ENST00000546278.1_Silent_p.S163S|ALDH5A1_ENST00000348925.2_Silent_p.S264S|ALDH5A1_ENST00000491546.1_Silent_p.S223S	p.S251S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	898	+			251					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.753A>G	CCDS4555.1																																																																																				0.378	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			102	366	0	0	0	1	0	102	366					G	24515421	A	G	24515421	2	3	47	1	0	0	0	0	0	0	0	1	502	175	7	4		4	ALDH5A1	6	24515421	Silent	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	12391599	24515421	146599646	117	5700											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28329181	28329181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagggtcacaaagtagCcaatttcagctaatgaaggc	10	11	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:28329181C>T	ENST00000377255.3	+	4	780	c.483C>T	c.(481-483)agC>agT	p.S161S	ZKSCAN3_ENST00000341464.5_Silent_p.S13S|ZKSCAN3_ENST00000252211.2_Silent_p.S161S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	161					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CACAAAGTAGCCAATTTCAGC	0.438																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(481-483)agC>agT		zinc finger with KRAB and SCAN domains 3							112	98	102					6																	28329181		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28329181C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.483C>T	6.37:g.28329181C>T						ZKSCAN3_ENST00000252211.2_Silent_p.S161S|ZKSCAN3_ENST00000341464.5_Silent_p.S13S	p.S161S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			4	780	+			161					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.483C>T	CCDS4650.1																																																																																				0.438	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		92	185	0	0	0	1	0	92	185					T	28329181	C	T	28329181	2	4	47	1	0	0	0	0	0	0	0	1	17741	738	26	2		2	ZKSCAN3	6	28329181	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3813760	28329181	142785886	118	5701											
VARS	7407	broad.mit.edu	37	chr6	31749280	31749280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaaagggcagcctgcccGtgagcttcaggcccagcatg	12	14	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:31749280G>A	ENST00000375663.3	-	21	2962	c.2522C>T	c.(2521-2523)aCg>aTg	p.T841M	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	841					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGCCTGCCCGTGAGCTTCAG	0.642																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2521-2523)aCg>aTg		valyl-tRNA synthetase	L-Valine(DB00161)						39	35	36					6																	31749280		1510	2708	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749280G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2522C>T	6.37:g.31749280G>A	ENSP00000364815:p.Thr841Met					VARS_ENST00000482996.1_5'UTR	p.T841M	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			21	2962	-			841					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2522C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948684	0.53186	.	.	ENSG00000204394	ENST00000375663	T	0.23348	1.91	5.12	5.12	0.69794	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.26162	0.8	0.80722	D	1	P	0.44344	0.833	B	0.40038	0.317	T	0.02404	-1.1164	10	0.52906	T	0.07	-25.2307	16.0986	0.81148	0.0:0.0:1.0:0.0	.	841	P26640	SYVC_HUMAN	M	841	ENSP00000364815:T841M	ENSP00000364815:T841M	T	-	2	0	VARS	31857259	1.000000	0.71417	0.961000	0.40146	0.819000	0.46315	5.801000	0.69115	2.664000	0.90586	0.655000	0.94253	ACG		0.642	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		5	87	0	0	0	1	0	5	87					A	31749280	G	A	31749280	3	1	47	1	0	0	0	0	1	0	0	0	17177	1145	40	1	1312	1	VARS	6	31749280	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3420099	31749280	139365787	119	5702											
C6orf153	88745	broad.mit.edu	37	chr6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-													gccggggccggggccggggcCggggcccgacgtccccgcgg					rs564567932|rs202053592	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	ENST00000244496.5	+	1	52_69	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	15					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784														43	0.00858626	0.0	0.0447	5008	,	,		9842	0.0089		0.002	False		,,,				2504	0.001					ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(40-60)gcc>gc		ribosomal RNA processing 36 homolog (S. cerevisiae)				3,1373		1,1,686						3.5	0		dbSNP_129	3	28,2930		7,14,1458	no	coding	RRP36	NM_033112.2		8,15,2144	A1A1,A1R,RR		0.9466,0.218,0.7153				31,4303				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.42_59delCGGGGCCCGACGTCCCCG	6.37:g.42989434_42989451delCGGGGCCCGACGTCCCCG	ENSP00000244496:p.Gly15_Arg20del						p.AGARRPR14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	52_69	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.42_59delCGGGGCCCGACGTCCCCG	CCDS34453.1																																																																																				0.784	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		7	13						7	13	---	---	---	---	-	42989451	CGGGGCCCGACGTCCCCG	-	42989434	7	5	47	1	0	1	0	1	0	0	0	0	2345	639	23	0	44	0	C6orf153	6	42989434	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	TCGA-FB-AAPP-01A-12D-A40W-08	11240154	42989434	128125633	120	5703											
CUL7	9820	broad.mit.edu	37	chr6	43018136	43018136	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttgactcccaaaataCctggagcatagggaaagaaa	10	9	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:43018136C>T	ENST00000265348.3	-	5	1319	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	CUL7_ENST00000535468.1_Splice_Site_p.V496I|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	412	Interaction with TP53.				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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCCAAAATACCTGGAGCATA	0.537																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.e5-1		cullin 7							75	67	70					6																	43018136		2203	4300	6503	SO:0001630	splice_region_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018136C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1234-1G>A	6.37:g.43018136C>T						CUL7_ENST00000265348.3_Splice_Site_p.V412_splice	p.V496_splice	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	1572	-			412					B4DYZ0|F5H0L1|Q5T654	Splice_Site	SNP	ENST00000265348.3	37	c.1485_splice	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194119	0.94960	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.86562	-2.14;-2.13	5.2	5.2	0.72013	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.060533	0.64402	D	0.000004	D	0.93426	0.7903	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94162	0.7415	10	0.87932	D	0	-16.6411	18.742	0.91777	0.0:1.0:0.0:0.0	.	496;412	F5H0L1;Q14999	.;CUL7_HUMAN	I	412;496	ENSP00000265348:V412I;ENSP00000438788:V496I	ENSP00000265348:V412I	V	-	1	0	CUL7	43126114	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.180000	0.77674	2.429000	0.82318	0.655000	0.94253	GTA		0.537	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	Missense_Mutation	76	87	0	0	0	1	0	76	87					T	43018136	C	T	43018136	5	4	47	1	0	0	0	0	0	0	1	0	4071	521	18	2	3950	2	CUL7	6	43018136	Splice_Site	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	28702	43018136	128096931	121	5704											
BMP5	653	broad.mit.edu	37	chr6	55739269	55739269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtggtcagaggagtcGtccgagataactgtatgcga	15	7	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:55739269G>A	ENST00000370830.3	-	1	1093	c.395C>T	c.(394-396)aCg>aTg	p.T132M	BMP5_ENST00000446683.2_Missense_Mutation_p.T132M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	132					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)			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)			CAGAGGAGTCGTCCGAGATAA	0.512																																						ENST00000370830.3																			0				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						c.(394-396)aCg>aTg		bone morphogenetic protein 5							134	116	122					6																	55739269		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739269G>A		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.395C>T	6.37:g.55739269G>A	ENSP00000359866:p.Thr132Met					BMP5_ENST00000446683.2_Missense_Mutation_p.T132M	p.T132M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1093	-	Lung NSC(77;0.0462)		132					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.395C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032070	0.19590	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72167	-0.63;-0.25	5.96	5.08	0.68730	Transforming growth factor-beta, N-terminal (1);	0.472446	0.23635	N	0.046097	T	0.27169	0.0666	N	0.08118	0	0.25731	N	0.985266	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.06303	-1.0834	10	0.46703	T	0.11	.	5.7313	0.18040	0.0779:0.1441:0.638:0.14	.	132;132	B4E0Y4;P22003	.;BMP5_HUMAN	M	132	ENSP00000359866:T132M;ENSP00000391818:T132M	ENSP00000359866:T132M	T	-	2	0	BMP5	55847228	1.000000	0.71417	0.309000	0.25155	0.990000	0.78478	4.895000	0.63214	1.491000	0.48482	0.650000	0.86243	ACG		0.512	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			18	261	0	0	0	1	0	18	261					A	55739269	G	A	55739269	3	1	47	1	0	0	0	0	1	0	0	0	1465	1145	40	1	997	1	BMP5	6	55739269	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	12721133	55739269	115375798	122	5705											
COL12A1	1303	broad.mit.edu	37	chr6	75898211	75898211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcagtgaaggtgtggaGgcaatttgtttgagttcttt	14	3	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:75898211G>A	ENST00000322507.8	-	8	1173	c.864C>T	c.(862-864)gcC>gcT	p.A288A	COL12A1_ENST00000483888.2_Silent_p.A288A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.A288A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	288	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGGTGTGGAGGCAATTTGTT	0.408																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(862-864)gcC>gcT		collagen, type XII, alpha 1							160	145	150					6																	75898211		1940	4132	6072	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898211G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.864C>T	6.37:g.75898211G>A						COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.A288A|COL12A1_ENST00000416123.2_Silent_p.A288A	p.A288A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			8	1173	-			288			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.864C>T	CCDS43482.1																																																																																				0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	381	0	0	0	1	0	10	381					A	75898211	G	A	75898211	2	1	47	1	0	0	0	0	0	0	0	1	3678	987	35	2		2	COL12A1	6	75898211	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	20158942	75898211	95216856	123	5706											
PHIP	55023	broad.mit.edu	37	chr6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-													tagctggggttttaagatccTttttttcctttcagggctgt							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150	155	153					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	707						7	707	---	---	---	---	-	79655961	T	-	79655961	7	5	47	1	0	1	0	1	0	0	0	0	11884	1608	56	0	1090	0	PHIP	6	79655961	Frame_Shift_Del	DEL	T	TCGA-FB-AAPP-01A-12D-A40W-08	3757750	79655961	91459106	124	5707											
OR2A4	79541	broad.mit.edu	37	chr6	132022505	132022505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacgggaaatcccagtaGgaggaactctctgatggatg	13	9	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:132022505G>A	ENST00000315453.2	-	1	130	c.37C>T	c.(37-39)Cta>Tta	p.L13L	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	13					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AATCCCAGTAGGAGGAACTCT	0.468																																						ENST00000315453.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(37-39)Cta>Tta		olfactory receptor, family 2, subfamily A, member 4							52	56	55					6																	132022505		2203	4297	6500	SO:0001819	synonymous_variant	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132022505G>A	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.37C>T	6.37:g.132022505G>A						ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron	p.L13L	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	130	-	Breast(56;0.0753)		13					Q0VAR3|Q6IF18|Q9NQN0	Silent	SNP	ENST00000315453.2	37	c.37C>T	CCDS5149.1																																																																																				0.468	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		16	264	0	0	0	1	0	16	264					A	132022505	G	A	132022505	2	1	47	1	0	0	0	0	0	0	0	1	11021	991	35	2		2	OR2A4	6	132022505	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	52366544	132022505	39092562	125	5708											
TAAR6	319100	broad.mit.edu	37	chr6	132891982	132891982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacacaggtgtctatgaCgatgggctggaggaattatc	12	7	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:132891982C>T	ENST00000275198.1	+	1	522	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	174					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GTGTCTATGACGATGGGCTGG	0.463																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(520-522)gaC>gaT		trace amine associated receptor 6							193	193	193					6																	132891982		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891982C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.522C>T	6.37:g.132891982C>T							p.D174D	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	522	+	Breast(56;0.112)		174					Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.522C>T	CCDS5155.1																																																																																				0.463	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		431	295	0	0	0	1	0	431	295					T	132891982	C	T	132891982	2	4	47	1	0	0	0	0	0	0	0	1	15544	535	19	1		1	TAAR6	6	132891982	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	869477	132891982	38223085	126	5709											
MAP3K5	4217	broad.mit.edu	37	chr6	136888858	136888859	+	Frame_Shift_Ins	INS	-	-	CTCA													acacagtagaactgagcgtgINSctcacgcctgaggtagccac					rs139070587		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:136888858_136888859insCTCA	ENST00000359015.4	-	26	4031_4032	c.3671_3672insTGAG	c.(3670-3672)agcfs	p.-1224fs	MAP3K5_ENST00000355845.4_Frame_Shift_Ins_p.-471fs	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AACTGAGCGTGCTCACGCCTGA	0.475																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3670-3672)aacfs		mitogen-activated protein kinase kinase kinase 5																																				SO:0001589	frameshift_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136888858_136888859insCTCA	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3668_3671dupTGAG	6.37:g.136888859_136888862dupCTCA	ENSP00000351908:p.Ser1224fs					MAP3K5_ENST00000355845.4_Frame_Shift_Ins_p.N471fs	p.N1224fs	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	4031_4032	-	Colorectal(23;0.24)		1224					A6NIA0|B4DGB2|Q5THN3|Q99461	Frame_Shift_Ins	INS	ENST00000359015.4	37	c.3671_3672insTGAG	CCDS5179.1																																																																																				0.475	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			66	105						66	105	---	---	---	---	CTCA	136888859	-	CTCA	136888858	7	5	47	1	0	1	1	0	0	0	0	0	9294	1310	46	0	472	0	MAP3K5	6	136888858	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	3996876	136888858	34226209	127	5710											
ESR1	2099	broad.mit.edu	37	chr6	152420041	152420041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgggctctacttcatcGcattccttgcaaaagtatta	7	11	2	0	rs185775221		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:152420041G>A	ENST00000206249.3	+	8	2090	c.1728G>A	c.(1726-1728)tcG>tcA	p.S576S	ESR1_ENST00000427531.2_Intron|ESR1_ENST00000440973.1_Silent_p.S576S|ESR1_ENST00000406599.1_Silent_p.S315S|ESR1_ENST00000338799.5_Silent_p.S576S|ESR1_ENST00000456483.2_Silent_p.S464S|ESR1_ENST00000443427.1_Silent_p.S576S	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	576	Interaction with AKAP13.|Self-association.|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)			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)	CTACTTCATCGCATTCCTTGC	0.607																																						ENST00000440973.1																			0				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						c.(1726-1728)tcG>tcA		estrogen receptor 1	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)	G	,,,	0,4406		0,0,2203	76	69	71		1728,1728,1728,1728	-3.2	0.4	6		71	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	576/596,576/596,576/596,576/596	152420041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152420041G>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.1728G>A	6.37:g.152420041G>A						ESR1_ENST00000443427.1_Silent_p.S576S|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.S315S|ESR1_ENST00000338799.5_Silent_p.S576S|ESR1_ENST00000456483.2_Silent_p.S464S|ESR1_ENST00000206249.3_Silent_p.S576S	p.S576S	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2098	+		Ovarian(120;0.0448)	576			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1728G>A	CCDS5234.1																																																																																				0.607	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			27	139	0	0	0	1	0	27	139					A	152420041	G	A	152420041	2	1	47	1	0	0	0	0	0	0	0	1	5274	1074	38	1		1	ESR1	6	152420041	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	15531183	152420041	18695026	128	5711											
C6orf118	168090	broad.mit.edu	37	chr6	165715541	165715541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcccacctcagaggcGcgctcccccttgggccggtg	13	18	2	1	rs200236975		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:165715541G>A	ENST00000230301.8	-	2	290	c.270C>T	c.(268-270)cgC>cgT	p.R90R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90R(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)		CCTCAGAGGCGCGCTCCCCCT	0.657																																						ENST00000230301.8																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(268-270)cgC>cgT		chromosome 6 open reading frame 118							69	78	75					6																	165715541		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715541G>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.270C>T	6.37:g.165715541G>A						C6orf118_ENST00000543069.1_5'UTR	p.R90R	NM_144980.3	NP_659417.2	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	290	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	90					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.270C>T	CCDS5288.1																																																																																				0.657	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		184	120	0	0	0	1	0	184	120					A	165715541	G	A	165715541	2	1	47	1	0	0	0	0	0	0	0	1	2330	1074	38	1		1	C6orf118	6	165715541	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	13295500	165715541	5399526	129	5712											
TCP10	6953	broad.mit.edu	37	chr6	167796338	167796338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctccctggggacctcGgctgctgcaggtgtcttctc	12	15	2	0	rs146766441	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:167796338G>A	ENST00000397829.4	-	2	191	c.24C>T	c.(22-24)gcC>gcT	p.A8A	TCP10_ENST00000476779.2_Silent_p.A8A|TCP10_ENST00000366827.2_Silent_p.A8A	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	35						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGGGGACCTCGGCTGCTGCAG	0.667													g|||	5	0.000998403	0.0038	0.0	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(22-24)gcC>gcT		t-complex 10		G		5,4321		0,5,2158	23	32	29		24	1.1	0	6	dbSNP_134	29	0,8558		0,0,4279	no	coding-synonymous	TCP10	NM_004610.3		0,5,6437	AA,AG,GG		0.0,0.1156,0.0388		8/327	167796338	5,12879	2163	4279	6442	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796338G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.24C>T	6.37:g.167796338G>A						TCP10_ENST00000397829.4_Silent_p.A8A|TCP10_ENST00000476779.2_Silent_p.A8A	p.A8A			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	235	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	35					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.24C>T	CCDS43527.1																																																																																				0.667	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		28	72	0	0	0	1	0	28	72					A	167796338	G	A	167796338	2	1	47	1	0	0	0	0	0	0	0	1	15762	1103	39	1		1	TCP10	6	167796338	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2080797	167796338	3318729	130	5713											
PSMG3	84262	broad.mit.edu	37	chr7	1607453	1607453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttgagacacaaacgCtaccaggttctttgcaaaga	8	10	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:1607453C>T	ENST00000288607.2	-	2	903	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	PSMG3_ENST00000252329.3_Missense_Mutation_p.A84T|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Missense_Mutation_p.A84T	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	84										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		GACACAAACGCTACCAGGTTC	0.498																																						ENST00000288607.2																			0				lung(2)	2						c.(250-252)Gcg>Acg		proteasome (prosome, macropain) assembly chaperone 3							86	76	79					7																	1607453		2203	4300	6503	SO:0001583	missense	84262							g.chr7:1607453C>T	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 48"	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.250G>A	7.37:g.1607453C>T	ENSP00000288607:p.Ala84Thr					PSMG3_ENST00000252329.3_Missense_Mutation_p.A84T|PSMG3_ENST00000404674.3_Missense_Mutation_p.A84T	p.A84T	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	2	903	-		Ovarian(82;0.11)	84					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.250G>A	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240137	0.10023	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.7	1.01	0.19927	.	0.390055	0.26612	N	0.023419	T	0.21307	0.0513	N	0.04132	-0.27	0.39036	D	0.960031	B	0.06786	0.001	B	0.06405	0.002	T	0.10428	-1.0630	9	0.08381	T	0.77	-20.6702	5.3218	0.15885	0.273:0.4792:0.0:0.2477	.	84	Q9BT73	PSMG3_HUMAN	T	84	.	ENSP00000252329:A84T	A	-	1	0	PSMG3	1573979	0.990000	0.36364	0.104000	0.21259	0.979000	0.70002	0.296000	0.19083	-0.063000	0.13065	0.655000	0.94253	GCG		0.498	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		44	380	0	0	0	1	0	44	380					T	1607453	C	T	1607453	3	4	47	1	0	0	0	0	1	0	0	0	12760	797	28	2	122	2	PSMG3	7	1607453	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		1607453	157531210	131	5714											
FERD3L	222894	broad.mit.edu	37	chr7	19184847	19184847	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgggtcttccctctcGgagcgcaagggctgggtccc	13	16	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:19184847G>A	ENST00000275461.3	-	1	197	c.139C>T	c.(139-141)Cga>Tga	p.R47*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	47					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R47*(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CTTCCCTCTCGGAGCGCAAGG	0.657																																						ENST00000275461.3																			1	Substitution - Nonsense(1)	p.R47*(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(139-141)Cga>Tga		Fer3-like bHLH transcription factor							49	40	43					7																	19184847		2203	4300	6503	SO:0001587	stop_gained	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184847G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.139C>T	7.37:g.19184847G>A	ENSP00000275461:p.Arg47*					AC003986.5_ENST00000452700.1_RNA	p.R47*	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	197	-			47					Q495K0	Nonsense_Mutation	SNP	ENST00000275461.3	37	c.139C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649724	0.47362	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.29	-0.377	0.12501	.	1.018130	0.07844	N	0.963576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.198	10.1516	0.42796	0.0:0.2228:0.4159:0.3614	.	.	.	.	X	47	.	ENSP00000275461:R47X	R	-	1	2	FERD3L	19151372	0.000000	0.05858	0.000000	0.03702	0.401000	0.30781	0.087000	0.14958	-0.072000	0.12864	-0.188000	0.12872	CGA		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			16	416	0	0	0	1	0	16	416					A	19184847	G	A	19184847	4	1	47	1	0	0	0	0	0	1	0	0	5841	1124	39	1	365	1	FERD3L	7	19184847	Nonsense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	17577394	19184847	139953816	132	5715											
CAMK2B	816	broad.mit.edu	37	chr7	44259760	44259760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtctcctcagactggctGgtgcggggccggccctgccc	16	16	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:44259760G>A	ENST00000395749.2	-	23	1978	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	CAMK2B_ENST00000395747.2_Silent_p.T486T|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000440254.2_Silent_p.T510T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000350811.3_Silent_p.T510T|CAMK2B_ENST00000258682.6_Silent_p.T485T|CAMK2B_ENST00000457475.1_Silent_p.T486T|CAMK2B_ENST00000358707.3_Silent_p.T471T|CAMK2B_ENST00000346990.4_Silent_p.T417T|CAMK2B_ENST00000347193.4_Silent_p.T460T|CAMK2B_ENST00000353625.4_Silent_p.T447T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	634					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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CAGACTGGCTGGTGCGGGGCC	0.667																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1900-1902)acC>acT		calcium/calmodulin-dependent protein kinase II beta							41	33	35					7																	44259760		2203	4298	6501	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.chr7:44259760G>A	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.1902C>T	7.37:g.44259760G>A						CAMK2B_ENST00000440254.2_Silent_p.T510T|CAMK2B_ENST00000346990.4_Silent_p.T417T|CAMK2B_ENST00000358707.3_Silent_p.T471T|CAMK2B_ENST00000395747.2_Silent_p.T486T|CAMK2B_ENST00000350811.3_Silent_p.T510T|CAMK2B_ENST00000258682.6_Silent_p.T485T|CAMK2B_ENST00000457475.1_Silent_p.T486T|CAMK2B_ENST00000353625.4_Silent_p.T447T|CAMK2B_ENST00000347193.4_Silent_p.T460T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_3'UTR	p.T634T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			23	1978	-			634					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.1902C>T	CCDS5483.1																																																																																				0.667	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		6	144	0	0	0	1	0	6	144					A	44259760	G	A	44259760	2	1	47	1	0	0	0	0	0	0	0	1	2607	1335	47	2		2	CAMK2B	7	44259760	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	25074913	44259760	114878903	133	5716											
GRB10	2887	broad.mit.edu	37	chr7	50672033	50672033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagggtagaagggtggagGggactttggctacctaggat	17	5	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:50672033G>A	ENST00000401949.1	-	16	1900	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	GRB10_ENST00000402578.1_Silent_p.P419P|GRB10_ENST00000407526.1_Silent_p.P419P|GRB10_ENST00000357271.5_Silent_p.P431P|GRB10_ENST00000439599.1_Silent_p.P471P|GRB10_ENST00000403097.1_Silent_p.P471P|GRB10_ENST00000398812.2_Silent_p.P477P|GRB10_ENST00000402497.1_Silent_p.P419P|GRB10_ENST00000335866.3_Silent_p.P419P|GRB10_ENST00000398810.2_Silent_p.P419P|GRB10_ENST00000406641.1_Silent_p.P419P			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	477					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAGGGTGGAGGGGACTTTGGC	0.502									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1411-1413)ccC>ccT		growth factor receptor-bound protein 10							152	155	154					7																	50672033		2029	4177	6206	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50672033G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1431C>T	7.37:g.50672033G>A						GRB10_ENST00000398810.2_Silent_p.P419P|GRB10_ENST00000398812.2_Silent_p.P477P|GRB10_ENST00000402578.1_Silent_p.P419P|GRB10_ENST00000407526.1_Silent_p.P419P|GRB10_ENST00000335866.3_Silent_p.P419P|GRB10_ENST00000401949.1_Silent_p.P477P|GRB10_ENST00000439599.1_Silent_p.P471P|GRB10_ENST00000402497.1_Silent_p.P419P|GRB10_ENST00000406641.1_Silent_p.P419P|GRB10_ENST00000357271.5_Silent_p.P431P	p.P471P			Q13322	GRB10_HUMAN			15	2193	-	Glioma(55;0.08)|all_neural(89;0.245)		477					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1413C>T	CCDS43582.1																																																																																				0.502	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			12	789	0	0	0	1	0	12	789					A	50672033	G	A	50672033	2	1	47	1	0	0	0	0	0	0	0	1	6786	1219	43	2		2	GRB10	7	50672033	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	6412273	50672033	108466630	134	5717											
AGFG2	3268	broad.mit.edu	37	chr7	100160565	100160565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcccaatggcttggcGccaggtaagcctccagcatg	11	14	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:100160565G>A	ENST00000300176.4	+	9	1289	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	389	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGCTTGGCGCCAGGTAAGC	0.602																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1165-1167)gcG>gcA		ArfGAP with FG repeats 2							65	55	58					7																	100160565		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100160565G>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1167G>A	7.37:g.100160565G>A						AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.A389A	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			9	1289	+			389			Pro-rich.		O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1167G>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580376	0.13686	.	.	ENSG00000106351	ENST00000429987	.	.	.	4.67	-1.37	0.09056	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.29943	N	0.820913	.	.	.	.	.	.	T	0.28202	-1.0051	4	.	.	.	-33.5017	1.2059	0.01895	0.1451:0.3809:0.1442:0.3298	.	.	.	.	H	131	.	.	R	+	2	0	AGFG2	99998501	0.006000	0.16342	0.077000	0.20336	0.833000	0.47200	-0.734000	0.04893	-0.503000	0.06586	-1.267000	0.01435	CGC		0.602	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		9	176	0	0	0	1	0	9	176					A	100160565	G	A	100160565	2	1	47	1	0	0	0	0	0	0	0	1	381	1074	38	1		1	AGFG2	7	100160565	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	49488532	100160565	58978098	135	5718											
RELN	5649	broad.mit.edu	37	chr7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaattagctgacgccGcccatctttgttgaaaacca	8	10	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000424685.2_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2260-2262)Cgg>Tgg		reelin							74	65	68					7																	103276725		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103276725G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2260C>T	7.37:g.103276725G>A	ENSP00000392423:p.Arg754Trp					RELN_ENST00000428762.1_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	p.R754W			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	18	2419	-			754					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2260C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	299	0	0	0	1	0	6	299					A	103276725	G	A	103276725	3	1	47	1	0	0	0	0	1	0	0	0	13270	1086	38	1	8314	1	RELN	7	103276725	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3116160	103276725	55861938	136	5719											
SLC26A4	5172	broad.mit.edu	37	chr7	107350622	107350622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtgaaatctcaagaggGtcaaggttccattttagaaa	9	7	2	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:107350622G>T	ENST00000265715.3	+	19	2437	c.2213G>T	c.(2212-2214)gGt>gTt	p.G738V	SLC26A4_ENST00000541474.1_Missense_Mutation_p.G299V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.G307V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.G325V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	738					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTCAAGAGGGTCAAGGTTCC	0.358									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2212-2214)gGt>gTt		solute carrier family 26 (anion exchanger), member 4							102	95	97					7																	107350622		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350622G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2213G>T	7.37:g.107350622G>T	ENSP00000265715:p.Gly738Val					SLC26A4_ENST00000541474.1_Missense_Mutation_p.G299V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.G307V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.G325V	p.G738V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2437	+			738					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2213G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629580	0.14257	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94793	-3.21;-3.46;-3.52;-3.52	5.51	0.896	0.19253	.	0.942460	0.08936	N	0.872273	D	0.85212	0.5645	N	0.08118	0	0.23735	N	0.996982	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.72391	-0.4308	10	0.25751	T	0.34	.	6.4058	0.21664	0.0962:0.0768:0.5628:0.2642	.	299;325;738	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	V	738;299;325;307	ENSP00000265715:G738V;ENSP00000439743:G299V;ENSP00000437427:G325V;ENSP00000441209:G307V	ENSP00000265715:G738V	G	+	2	0	SLC26A4	107137858	0.000000	0.05858	0.049000	0.19019	0.891000	0.51852	0.029000	0.13666	-0.009000	0.14296	0.650000	0.86243	GGT		0.358	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	394	1	0	0.000602214	1	0.000613732	5	394					T	107350622	G	T	107350622	3	4	47	1	0	0	0	0	1	0	0	0	14569	1261	44	3	2283	3	SLC26A4	7	107350622	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4073897	107350622	51788041	137	5720											
KCND2	3751	broad.mit.edu	37	chr7	119915439	119915439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttcgcctggctgcagcGcctagtcgttaccgttttgt	11	12	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:119915439G>A	ENST00000331113.4	+	1	1718	c.753G>A	c.(751-753)gcG>gcA	p.A251A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	251					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCTGCAGCGCCTAGTCGTT	0.532																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(751-753)gcG>gcA		potassium voltage-gated channel, Shal-related subfamily, member 2							184	152	163					7																	119915439		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915439G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.753G>A	7.37:g.119915439G>A							p.A251A	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1718	+	all_neural(327;0.117)		251					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.753G>A	CCDS5776.1																																																																																				0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		191	202	0	0	0	1	0	191	202					A	119915439	G	A	119915439	2	1	47	1	0	0	0	0	0	0	0	1	8049	1074	38	1		1	KCND2	7	119915439	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	12564817	119915439	39223224	138	5721											
SSPO	23145	broad.mit.edu	37	chr7	149485990	149485990	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaccaggacgactgtggCgatggctctgatgaggaggg	17	8	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:149485990C>T	ENST00000378016.2	+	0	4209							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGACTGTGGCGATGGCTCTG	0.582																																						ENST00000378016.2																			0													SCO-spondin							83	87	85					7																	149485990		2184	4286	6470			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485990C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485990C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4209	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.582	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	161	0	0	0	1	0	6	161					T	149485990	C	T	149485990	1	4	47	0	1	0	0	0	0	0	0	0	15241	755	27	1		1	SSPO	7	149485990	RNA	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	29570551	149485990	9652673	139	5722											
GIMAP8	155038	broad.mit.edu	37	chr7	150164276	150164276	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcaagactatgagggcCgatactgcattttcaacaac	9	9	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:150164276C>T	ENST00000307271.3	+	2	1064	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	164	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTATGAGGGCCGATACTGCAT	0.443																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(490-492)Cga>Tga		GTPase, IMAP family member 8							122	115	117					7																	150164276		2203	4300	6503	SO:0001587	stop_gained	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164276C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.490C>T	7.37:g.150164276C>T	ENSP00000305107:p.Arg164*						p.R164*	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	1064	+			164						Nonsense_Mutation	SNP	ENST00000307271.3	37	c.490C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	38	7.151425	0.98099	.	.	ENSG00000171115	ENST00000307271	.	.	.	4.38	1.34	0.21922	.	0.411941	0.17950	N	0.156556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0174	0.24895	0.348:0.4831:0.1689:0.0	.	.	.	.	X	164	.	ENSP00000305107:R164X	R	+	1	2	GIMAP8	149795209	0.001000	0.12720	0.007000	0.13788	0.032000	0.12392	-0.137000	0.10389	0.484000	0.27630	-0.238000	0.12139	CGA		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		6	712	0	0	0	1	0	6	712					T	150164276	C	T	150164276	4	4	47	1	0	0	0	0	0	1	0	0	6414	644	23	1	492	1	GIMAP8	7	150164276	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	678286	150164276	8974387	140	5723											
HTR5A	3361	broad.mit.edu	37	chr7	154876006	154876006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctcattggcgtgttcGtgctctgctggatccccttc	10	14	2	0	rs371458123		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:154876006G>A	ENST00000287907.2	+	2	1459	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	295					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.V295M(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGGCGTGTTCGTGCTCTGCTG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17773	0.0		0.0	False		,,,				2504	0.0					ENST00000287907.2																			2	Substitution - Missense(2)	p.V295M(2)	breast(1)|endometrium(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(883-885)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		G	MET/VAL	0,4406		0,0,2203	225	180	196		883	4.9	0	7		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	HTR5A	NM_024012.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	295/358	154876006	1,13005	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876006G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.883G>A	7.37:g.154876006G>A	ENSP00000287907:p.Val295Met					HTR5A_ENST00000486819.1_3'UTR	p.V295M	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1459	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	295					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.883G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272180	0.59649	0.0	1.16E-4	ENSG00000157219	ENST00000287907	T	0.74526	-0.85	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.269264	0.35708	N	0.003021	D	0.86732	0.6003	M	0.83774	2.66	0.51233	D	0.999914	D	0.61080	0.989	D	0.66196	0.942	D	0.88554	0.3118	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	295	P47898	5HT5A_HUMAN	M	295	ENSP00000287907:V295M	ENSP00000287907:V295M	V	+	1	0	HTR5A	154506939	1.000000	0.71417	0.033000	0.17914	0.073000	0.16967	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	GTG		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		28	625	0	0	0	1	0	28	625					A	154876006	G	A	154876006	3	1	47	1	0	0	0	0	1	0	0	0	7480	1145	40	1	889	1	HTR5A	7	154876006	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4711730	154876006	4262657	141	5724											
CSMD1	64478	broad.mit.edu	37	chr8	3263663	3263663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacagtggaaagaaaccgAgctcccgagtagaaacctgt	10	10	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:3263663A>G	ENST00000520002.1	-	16	2710	c.2155T>C	c.(2155-2157)Tcg>Ccg	p.S719P	CSMD1_ENST00000542608.1_Missense_Mutation_p.S718P|CSMD1_ENST00000602557.1_Missense_Mutation_p.S719P|CSMD1_ENST00000537824.1_Missense_Mutation_p.S718P|CSMD1_ENST00000539096.1_Missense_Mutation_p.S718P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S719P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S719P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	719	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGAAACCGAGCTCCCGAGT	0.493																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2155-2157)Tcg>Ccg		CUB and Sushi multiple domains 1							54	55	54					8																	3263663		1915	4131	6046	SO:0001583	missense	64478					integral to membrane		g.chr8:3263663A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2155T>C	8.37:g.3263663A>G	ENSP00000430733:p.Ser719Pro					CSMD1_ENST00000542608.1_Missense_Mutation_p.S718P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S719P|CSMD1_ENST00000537824.1_Missense_Mutation_p.S718P|CSMD1_ENST00000539096.1_Missense_Mutation_p.S718P|CSMD1_ENST00000520002.1_Missense_Mutation_p.S719P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S719P	p.S719P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2710	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	719			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2155T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.33|19.33	3.806114|3.806114	0.70682|0.70682	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.84284|0.84284	0.5438|0.5438	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.992;0.999	.|D;D	.|0.97110	.|0.996;1.0	D|D	0.86812|0.86812	0.1999|0.1999	5|10	.|0.54805	.|T	.|0.06	.|.	15.5259|15.5259	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|719;719	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	P|P	198|719;719;581;718;718;718	.|ENSP00000383047:S719P;ENSP00000430733:S719P;ENSP00000441462:S718P;ENSP00000446243:S718P;ENSP00000441675:S718P	.|ENSP00000320445:S581P	L|S	-|-	2|1	0|0	CSMD1|CSMD1	3251070|3251070	1.000000|1.000000	0.71417|0.71417	0.726000|0.726000	0.30738|0.30738	0.334000|0.334000	0.28698|0.28698	7.161000|7.161000	0.77505|0.77505	2.049000|2.049000	0.60858|0.60858	0.533000|0.533000	0.62120|0.62120	CTC|TCG		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		58	80	0	0	0	1	0	58	80					G	3263663	A	G	3263663	3	3	47	1	0	0	0	0	1	0	0	0	3955	304	11	4	8766	4	CSMD1	8	3263663	Missense_Mutation	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08		3263663	143100359	142	5725											
NPM2	10361	broad.mit.edu	37	chr8	21892020	21892021	+	Splice_Site	INS	-	-	A													cactgttttttggttcccagINSaaaaaaaagctggaaaaaga							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:21892020_21892021insA	ENST00000397940.1	+	7	1546_1547		c.e7-1		snoU13_ENST00000459495.1_RNA|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000521157.1_Splice_Site			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2						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)			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)		TTGGTTCCCAGAAAAAAAAGCT	0.406																																						ENST00000397940.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.e7-1		nucleophosmin/nucleoplasmin 2																																				SO:0001630	splice_region_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.chr8:21892020_21892021insA	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.532-1->A	8.37:g.21892028_21892028dupA						NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000289820.6_Splice_Site				Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	7	1546_1547	+								B3KSU0|D3DSQ8|Q6NVH6	Splice_Site	INS	ENST00000397940.1	37		CCDS6018.1																																																																																				0.406	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795	Intron	7	938						7	938	---	---	---	---	A	21892021	-	A	21892020	8	5	47	1	0	1	1	0	0	0	1	0	10630	956	33	0	553	0	NPM2	8	21892020	Splice_Site	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	18628357	21892020	124472002	143	5726											
IDO2	169355	broad.mit.edu	37	chr8	39872943	39872943	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggagctatcacatcaCcatggtcaccaaatacctca	7	14	4	0	rs143841632		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:39872943C>G	ENST00000389060.4	+	10	1046	c.1046C>G	c.(1045-1047)aCc>aGc	p.T349S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.T362S			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	349					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCACATCACCATGGTCACC	0.547																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1084-1086)aCc>aGc		indoleamine 2,3-dioxygenase 2							83	82	82					8																	39872943		2083	4198	6281	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39872943C>G	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1046C>G	8.37:g.39872943C>G	ENSP00000426447:p.Thr349Ser					IDO2_ENST00000389060.4_Missense_Mutation_p.T349S|IDO2_ENST00000343295.4_3'UTR	p.T362S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1327	+			349					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.1085C>G		.	.	.	.	.	.	.	.	.	.	C	1.597	-0.527460	0.04141	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.40476	1.03;1.03	5.91	0.612	0.17591	.	0.601453	0.17696	N	0.165097	T	0.23611	0.0571	N	0.17278	0.47	0.09310	N	1	B;B	0.31351	0.228;0.32	B;B	0.37387	0.121;0.248	T	0.14448	-1.0472	9	.	.	.	.	4.375	0.11267	0.3395:0.3871:0.2036:0.0698	.	362;349	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	362;349	ENSP00000443432:T362S;ENSP00000426447:T349S	.	T	+	2	0	IDO2	39992100	0.000000	0.05858	0.005000	0.12908	0.705000	0.40729	0.010000	0.13242	0.741000	0.32674	0.655000	0.94253	ACC		0.547	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		5	247	0	0	0	1	0	5	247					G	39872943	C	G	39872943	3	3	47	1	0	0	0	0	1	0	0	0	7532	507	18	5	1127	5	IDO2	8	39872943	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	17980923	39872943	106491079	144	5727											
FAM110B	90362	broad.mit.edu	37	chr8	59059480	59059480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcccaagcccaaaatcGcagccatcgcctccatgaag	7	17	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:59059480G>A	ENST00000361488.3	+	5	1571	c.691G>A	c.(691-693)Gca>Aca	p.A231T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	231						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCCAAAATCGCAGCCATCGC	0.627																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(691-693)Gca>Aca		family with sequence similarity 110, member B							79	86	83					8																	59059480		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059480G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.691G>A	8.37:g.59059480G>A	ENSP00000355204:p.Ala231Thr					FAM110B_ENST00000520369.1_Intron	p.A231T	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1571	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	231					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.691G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379087	0.24944	.	.	ENSG00000169122	ENST00000361488	T	0.32753	1.44	5.39	3.53	0.40419	.	0.173925	0.49916	D	0.000131	T	0.18923	0.0454	L	0.27053	0.805	0.49915	D	0.99983	B	0.28783	0.222	B	0.21151	0.033	T	0.04693	-1.0933	9	.	.	.	-21.918	11.0802	0.48055	0.071:0.1292:0.7998:0.0	.	231	Q8TC76	F110B_HUMAN	T	231	ENSP00000355204:A231T	.	A	+	1	0	FAM110B	59222034	0.787000	0.28750	0.085000	0.20634	0.662000	0.39071	1.322000	0.33689	0.582000	0.29556	0.561000	0.74099	GCA		0.627	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		20	417	0	0	0	1	0	20	417					A	59059480	G	A	59059480	3	1	47	1	0	0	0	0	1	0	0	0	5418	1087	38	1	693	1	FAM110B	8	59059480	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	19186537	59059480	87304542	145	5728											
PDE7A	5150	broad.mit.edu	37	chr8	66701121	66701121	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aataaagatggcctaccttaGaggtgatccacttgataaga	9	7	0	5			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:66701121G>A	ENST00000401827.3	-	2	582				PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000379419.4_Missense_Mutation_p.S19F	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCCTACCTTAGAGGTGATCCA	0.393																																						ENST00000379419.4																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(55-57)tCt>tTt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						116	105	109					8																	66701121		2203	4300	6503	SO:0001627	intron_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66701121G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.139-6043C>T	8.37:g.66701121G>A						PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	p.S19F	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	198	-			45					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.56C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345351	0.82022	.	.	ENSG00000205268	ENST00000379419;ENST00000523253	T;T	0.69561	-0.41;0.79	5.75	5.75	0.90469	.	0.308493	0.36409	N	0.002612	D	0.82751	0.5105	.	.	.	0.80722	D	1	D	0.64830	0.994	D	0.74348	0.983	T	0.82790	-0.0283	9	0.56958	D	0.05	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	19	Q13946-2	.	F	19	ENSP00000368730:S19F;ENSP00000430262:S19F	ENSP00000368730:S19F	S	-	2	0	PDE7A	66863675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.831000	0.55776	2.866000	0.98385	0.650000	0.86243	TCT		0.393	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			10	438	0	0	0	1	0	10	438					A	66701121	G	A	66701121	1	1	47	0	1	0	0	0	0	0	0	0	11693	942	33	2		2	PDE7A	8	66701121	Intron	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7641641	66701121	79662901	146	5729											
ZFHX4	79776	broad.mit.edu	37	chr8	77767077	77767077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttgatcatattgcccgCgaagtcgggctgaaaaaaag	11	8	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:77767077C>T	ENST00000521891.2	+	10	8368	c.7920C>T	c.(7918-7920)cgC>cgT	p.R2640R	ZFHX4_ENST00000518282.1_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2595R|ZFHX4_ENST00000050961.6_Silent_p.R2595R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATTGCCCGCGAAGTCGGGC	0.517										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7918-7920)cgC>cgT		zinc finger homeobox 4							39	40	40					8																	77767077		1861	4105	5966	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767077C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7920C>T	8.37:g.77767077C>T		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2595R|ZFHX4_ENST00000050961.6_Silent_p.R2595R	p.R2640R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8368	+			2595					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7920C>T	CCDS47878.2																																																																																				0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	254	0	0	0	1	0	6	254					T	77767077	C	T	77767077	2	4	47	1	0	0	0	0	0	0	0	1	17688	755	27	1		1	ZFHX4	8	77767077	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	11065956	77767077	68596945	147	5730											
CPNE3	8895	broad.mit.edu	37	chr8	87549866	87549866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaactggctaatggttcatCggacagaggtgaatatttga	12	5	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:87549866C>T	ENST00000521271.1	+	7	697	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	179	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.R179W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGGTTCATCGGACAGAGGT	0.323																																						ENST00000521271.1																			1	Substitution - Missense(1)	p.R179W(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(535-537)Cgg>Tgg		copine III							126	114	118					8																	87549866		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549866C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.535C>T	8.37:g.87549866C>T	ENSP00000430934:p.Arg179Trp					CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W	p.R179W	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	697	+			179			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.535C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162009	0.78226	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.49720	0.77;0.77;0.77	5.63	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83784	0.0227	10	0.87932	D	0	-18.6989	13.284	0.60232	0.273:0.727:0.0:0.0	.	179	O75131	CPNE3_HUMAN	W	179	ENSP00000198765:R179W;ENSP00000430934:R179W;ENSP00000427791:R179W	ENSP00000198765:R179W	R	+	1	2	CPNE3	87618982	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.499000	0.60380	2.644000	0.89710	0.655000	0.94253	CGG		0.323	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			16	401	0	0	0	1	0	16	401					T	87549866	C	T	87549866	3	4	47	1	0	0	0	0	1	0	0	0	3822	875	31	1	553	1	CPNE3	8	87549866	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9782789	87549866	58814156	148	5731											
TG	7038	broad.mit.edu	37	chr8	133953738	133953738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgtcttcttgcatgCgaccgtgatctgtgttgcga	10	11	5	1	rs199599591		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:133953738C>T	ENST00000220616.4	+	26	5224	c.5184C>T	c.(5182-5184)tgC>tgT	p.C1728C	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Silent_p.C1671C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1728					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)				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)		TTCTTGCATGCGACCGTGATC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23532	0.0		0.0	False		,,,				2504	0.0					ENST00000220616.4																			0				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						c.(5182-5184)tgC>tgT		thyroglobulin		C		2,4404	4.2+/-10.8	0,2,2201	175	141	152		5184	3.2	1	8		152	0,8600		0,0,4300	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1728/2769	133953738	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133953738C>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.5184C>T	8.37:g.133953738C>T						TG_ENST00000377869.1_Silent_p.C1671C|TG_ENST00000542445.1_Intron	p.C1728C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	26	5224	+	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)	1728					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5184C>T	CCDS34944.1																																																																																				0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	358	0	0	0	1	0	10	358					T	133953738	C	T	133953738	2	4	47	1	0	0	0	0	0	0	0	1	15865	776	27	1		1	TG	8	133953738	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	46403872	133953738	12410284	149	5732											
GLI4	2738	broad.mit.edu	37	chr8	144358694	144358694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctccaacctggtgcGccaccagcggctgcacacgg	12	17	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:144358694G>A	ENST00000523522.1	+	3	890	c.851G>A	c.(850-852)cGc>cAc	p.R284H	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.R284H			P10075	GLI4_HUMAN	GLI family zinc finger 4	284					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AACCTGGTGCGCCACCAGCGG	0.657																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(850-852)cGc>cAc		GLI family zinc finger 4							28	29	29					8																	144358694		2203	4299	6502	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358694G>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.851G>A	8.37:g.144358694G>A	ENSP00000430987:p.Arg284His					GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R284H	p.R284H	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	936	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		284					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.851G>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	6.257	0.415526	0.11870	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.07567	3.18;3.18	3.97	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16896	0.0406	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	P	0.62382	0.901	T	0.20438	-1.0275	9	0.12103	T	0.63	.	2.7474	0.05271	0.1058:0.182:0.5251:0.1871	.	284	P10075	GLI4_HUMAN	H	284	ENSP00000345024:R284H;ENSP00000430987:R284H	ENSP00000345024:R284H	R	+	2	0	GLI4	144430069	0.000000	0.05858	0.990000	0.47175	0.105000	0.19272	-1.500000	0.02283	0.851000	0.35264	-0.320000	0.08662	CGC		0.657	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			4	125	0	0	0	1	0	4	125					A	144358694	G	A	144358694	3	1	47	1	0	0	0	0	1	0	0	0	6469	1087	38	1	861	1	GLI4	8	144358694	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	10404956	144358694	2005328	150	5733											
SCRIB	23513	broad.mit.edu	37	chr8	144889134	144889134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggagcccttgccgcccGcaatgctgatgcccaggccc	13	16	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:144889134G>A	ENST00000320476.3	-	17	2234	c.2228C>T	c.(2227-2229)gCg>gTg	p.A743V	SCRIB_ENST00000356994.2_Missense_Mutation_p.A743V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A662V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	743	Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTGCCGCCCGCAATGCTGAT	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2227-2229)gCg>gTg		scribbled planar cell polarity protein							51	49	50					8																	144889134		2201	4300	6501	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144889134G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2228C>T	8.37:g.144889134G>A	ENSP00000322938:p.Ala743Val					SCRIB_ENST00000320476.3_Missense_Mutation_p.A743V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A662V	p.A743V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		17	2234	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		743			Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2228C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.296116	0.81025	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.12	4.12	0.48240	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.35941	0.0949	N	0.17764	0.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.37244	-0.9714	9	0.87932	D	0	.	15.5397	0.76031	0.0:0.0:1.0:0.0	.	743;743	Q14160;Q14160-3	SCRIB_HUMAN;.	V	743;743;662;112;40	ENSP00000349486:A743V;ENSP00000322938:A743V;ENSP00000366756:A662V;ENSP00000433546:A40V	ENSP00000322938:A743V	A	-	2	0	SCRIB	144961122	1.000000	0.71417	0.346000	0.25655	0.411000	0.31082	7.292000	0.78731	2.150000	0.67090	0.486000	0.48141	GCG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		36	61	0	0	0	1	0	36	61					A	144889134	G	A	144889134	3	1	47	1	0	0	0	0	1	0	0	0	13987	1087	38	1	2823	1	SCRIB	8	144889134	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	530440	144889134	1474888	151	5734											
VLDLR	7436	broad.mit.edu	37	chr9	2644767	2644767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtaaataatggtggatGttctcatatctgcaaagacc	9	7	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:2644767G>A	ENST00000382100.3	+	8	1456	c.1100G>A	c.(1099-1101)tGt>tAt	p.C367Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.C367Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	367	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AATGGTGGATGTTCTCATATC	0.363																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1099-1101)tGt>tAt		very low density lipoprotein receptor							99	99	99					9																	2644767		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2644767G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1100G>A	9.37:g.2644767G>A	ENSP00000371532:p.Cys367Tyr					VLDLR_ENST00000382099.2_Missense_Mutation_p.C367Y	p.C367Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	8	1456	+			367			EGF-like 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1100G>A	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753656	0.89753	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.99818	-6.92;-6.92	5.83	5.83	0.93111	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000019	D	0.99921	0.9963	H	0.99391	4.545	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.76575	0.988;0.973;0.973	D	0.96125	0.9088	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	367;367;367	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Y	367;367;246	ENSP00000371532:C367Y;ENSP00000371531:C367Y	ENSP00000371524:C246Y	C	+	2	0	VLDLR	2634767	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.476000	0.97823	2.756000	0.94617	0.655000	0.94253	TGT		0.363	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		54	219	0	0	0	1	0	54	219					A	2644767	G	A	2644767	3	1	47	1	0	0	0	0	1	0	0	0	17228	1377	48	2	1130	2	VLDLR	9	2644767	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		2644767	138568664	152	5735											
MLANA	2315	broad.mit.edu	37	chr9	5906999	5906999	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaactgtgaacctgtgGtaggttaagatccttcataa	9	6	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:5906999G>A	ENST00000381477.3	+	4	448		c.e4+1		MLANA_ENST00000381471.1_Splice_Site|KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381476.1_Splice_Site	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A							endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TGAACCTGTGGTAGGTTAAGA	0.378																																						ENST00000381477.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8						c.e4+1		melan-A							78	77	78					9																	5906999		2203	4300	6503	SO:0001630	splice_region_variant	2315					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	g.chr9:5906999G>A		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.288+1G>A	9.37:g.5906999G>A						KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000381476.1_Splice_Site|MLANA_ENST00000381471.1_Splice_Site|MLANA_ENST00000490518.1_3'UTR		NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)	4	448	+		Acute lymphoblastic leukemia(23;0.158)						Q6ICU4	Splice_Site	SNP	ENST00000381477.3	37		CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757813	0.49468	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9988	0.80270	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLANA	5896999	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	4.746000	0.62133	2.855000	0.98099	0.650000	0.86243	.		0.378	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1		Intron	5	321	0	0	0	1	0	5	321					A	5906999	G	A	5906999	5	1	47	1	0	0	0	0	0	0	1	0	9652	1275	44	2	299	2	MLANA	9	5906999	Splice_Site	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3262232	5906999	135306432	153	5736											
KDM4C	23081	broad.mit.edu	37	chr9	6980958	6980958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacatggtgaagatttcaAtggatatctttgtgaggaaa	11	3	2	4			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:6980958A>G	ENST00000381309.3	+	9	1520	c.955A>G	c.(955-957)Atg>Gtg	p.M319V	KDM4C_ENST00000442236.2_Missense_Mutation_p.M138V|KDM4C_ENST00000536108.1_Missense_Mutation_p.M138V|RP11-403H13.1_ENST00000445708.1_RNA|KDM4C_ENST00000535193.1_Missense_Mutation_p.M341V|KDM4C_ENST00000381306.3_Missense_Mutation_p.M319V|KDM4C_ENST00000543771.1_Missense_Mutation_p.M319V|KDM4C_ENST00000428870.2_Missense_Mutation_p.M6V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	319					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GAAGATTTCAATGGATATCTT	0.423																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(955-957)Atg>Gtg		lysine (K)-specific demethylase 4C							128	119	122					9																	6980958		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6980958A>G	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.955A>G	9.37:g.6980958A>G	ENSP00000370710:p.Met319Val					KDM4C_ENST00000428870.2_Missense_Mutation_p.M6V|KDM4C_ENST00000536108.1_Missense_Mutation_p.M138V|KDM4C_ENST00000543771.1_Missense_Mutation_p.M319V|KDM4C_ENST00000381306.3_Missense_Mutation_p.M319V|KDM4C_ENST00000442236.2_Missense_Mutation_p.M138V|KDM4C_ENST00000535193.1_Missense_Mutation_p.M341V	p.M319V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			9	1520	+			319					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.955A>G	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829787	0.71258	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;2.19	5.54	5.54	0.83059	.	0.089541	0.85682	D	0.000000	D	0.85195	0.5641	M	0.82923	2.615	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.997;0.996;0.993;1.0;1.0	D;D;D;D;D	0.91635	0.976;0.993;0.966;0.998;0.999	D	0.87585	0.2487	10	0.87932	D	0	-4.562	15.6569	0.77144	1.0:0.0:0.0:0.0	.	138;319;341;319;319	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	V	341;319;319;319;138;138;6	ENSP00000442382:M341V;ENSP00000445427:M319V;ENSP00000370710:M319V;ENSP00000370707:M319V;ENSP00000409353:M138V;ENSP00000440656:M138V;ENSP00000405739:M6V	ENSP00000370707:M319V	M	+	1	0	KDM4C	6970958	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.249000	0.95470	2.095000	0.63458	0.477000	0.44152	ATG		0.423	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		171	183	0	0	0	1	0	171	183					G	6980958	A	G	6980958	3	3	47	1	0	0	0	0	1	0	0	0	8160	101	4	4	1055	4	KDM4C	9	6980958	Missense_Mutation	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	1073959	6980958	134232473	154	5737											
NFIB	4781	broad.mit.edu	37	chr9	14120485	14120485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataagaaggtacatagttcTtcagagtatcctgaggattc	9	7	2	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:14120485T>C	ENST00000380959.3	-	8	1672	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	NFIB_ENST00000397575.3_Missense_Mutation_p.K400R|NFIB_ENST00000397579.2_Missense_Mutation_p.K400R|NFIB_ENST00000380924.1_Missense_Mutation_p.K148R|NFIB_ENST00000397581.2_Missense_Mutation_p.K400R|NFIB_ENST00000380953.1_Missense_Mutation_p.K400R|NFIB_ENST00000543693.1_Missense_Mutation_p.K148R|NFIB_ENST00000380934.4_Missense_Mutation_p.K426R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	400					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TACATAGTTCTTCAGAGTATC	0.443			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(1198-1200)aAg>aGg		nuclear factor I/B							219	214	216					9																	14120485		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14120485T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1199A>G	9.37:g.14120485T>C	ENSP00000370346:p.Lys400Arg					NFIB_ENST00000543693.1_Missense_Mutation_p.K148R|NFIB_ENST00000380953.1_Missense_Mutation_p.K400R|NFIB_ENST00000397579.2_Missense_Mutation_p.K400R|NFIB_ENST00000380924.1_Missense_Mutation_p.K148R|NFIB_ENST00000380934.4_Missense_Mutation_p.K426R|NFIB_ENST00000397581.2_Missense_Mutation_p.K400R|NFIB_ENST00000397575.3_Missense_Mutation_p.K400R	p.K400R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	8	1672	-			400					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.1199A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908578	0.72868	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.65677	2.01	0.58432	D	0.999995	D;D;D;P	0.63046	0.992;0.979;0.979;0.927	P;D;D;D	0.71414	0.814;0.973;0.973;0.953	T	0.74057	-0.3787	10	0.87932	D	0	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	400;400;400;148	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	R	426;400;400;400;400;400;148;148	ENSP00000370321:K426R;ENSP00000370346:K400R;ENSP00000370340:K400R;ENSP00000380705:K400R;ENSP00000380711:K400R;ENSP00000380709:K400R;ENSP00000442888:K148R;ENSP00000370311:K148R	ENSP00000370311:K148R	K	-	2	0	NFIB	14110485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.165000	0.68154	0.528000	0.53228	AAG		0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		12	557	0	0	0	1	0	12	557					C	14120485	T	C	14120485	3	2	47	1	0	0	0	0	1	0	0	0	10413	1609	56	4	71	4	NFIB	9	14120485	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	7139527	14120485	127092946	155	5738											
C9orf79	286234	broad.mit.edu	37	chr9	90499930	90499930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctaaggcccaccagccGcatgggaaatgcatgcaaga	11	13	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:90499930G>A	ENST00000325643.5	+	4	594	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCACCAGCCGCATGGGAAAT	0.637																																						ENST00000325643.5																			0											c.(526-528)ccG>ccA		SPATA31 subfamily E, member 1							66	69	68					9																	90499930		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90499930G>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.528G>A	9.37:g.90499930G>A							p.P176P	NM_178828.4	NP_849150.3					4	594	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.528G>A	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		11	313	0	0	0	1	0	11	313					A	90499930	G	A	90499930	2	1	47	1	0	0	0	0	0	0	0	1	2504	1074	38	1		1	C9orf79	9	90499930	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	76379445	90499930	50713501	156	5739											
COL15A1	1306	broad.mit.edu	37	chr9	101824552	101824552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaactgatccccattcctgCcgacagccctccaccccctg	6	20	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:101824552C>A	ENST00000375001.3	+	38	3980	c.3557C>A	c.(3556-3558)gCc>gAc	p.A1186D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1186	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCATTCCTGCCGACAGCCCT	0.443																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3556-3558)gCc>gAc		collagen, type XV, alpha 1							95	90	91					9																	101824552		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101824552C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3557C>A	9.37:g.101824552C>A	ENSP00000364140:p.Ala1186Asp						p.A1186D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			38	3980	+		Acute lymphoblastic leukemia(62;0.0562)	1186	Missing (in Ref. 2; AAC78500).		Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3557C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549794	0.27652	.	.	ENSG00000204291	ENST00000375001	T	0.43294	0.95	5.88	-0.85	0.10720	Collagenase NC10/endostatin (1);	0.885904	0.10034	N	0.724353	T	0.19886	0.0478	N	0.08118	0	0.21147	N	0.99977	B	0.13145	0.007	B	0.16289	0.015	T	0.29549	-1.0008	10	0.12766	T	0.61	-2.6028	9.8622	0.41120	0.6193:0.3119:0.0:0.0688	.	1186	P39059	COFA1_HUMAN	D	1186	ENSP00000364140:A1186D	ENSP00000364140:A1186D	A	+	2	0	COL15A1	100864373	0.125000	0.22332	0.069000	0.20011	0.958000	0.62258	0.430000	0.21428	-0.117000	0.11872	-0.324000	0.08512	GCC		0.443	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		7	366	1	0	2.74318e-10	1	2.93182e-10	7	366					A	101824552	C	A	101824552	3	1	47	1	0	0	0	0	1	0	0	0	3681	739	26	3	3707	3	COL15A1	9	101824552	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	11324622	101824552	39388879	157	5740											
RNF20	56254	broad.mit.edu	37	chr9	104312897	104312897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctaaggtggaattgCggagtgcagtggagcaagtc	15	9	0	0	rs372304320		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:104312897C>T	ENST00000389120.3	+	10	1192	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	368					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R368W(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTGGAATTGCGGAGTGCAGT	0.468																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.R368W(1)	kidney(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1102-1104)Cgg>Tgg		ring finger protein 20, E3 ubiquitin protein ligase		C	TRP/ARG	0,4406		0,0,2203	157	152	154		1102	5	1	9		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF20	NM_019592.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	368/976	104312897	1,13005	2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312897C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1102C>T	9.37:g.104312897C>T	ENSP00000373772:p.Arg368Trp						p.R368W	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1192	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	368					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1102C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216353	0.58452	0.0	1.16E-4	ENSG00000155827	ENST00000389120	T	0.33865	1.39	5.92	4.99	0.66335	.	0.250465	0.41001	D	0.000966	T	0.31796	0.0808	L	0.49126	1.545	0.40626	D	0.981816	D	0.63880	0.993	B	0.41135	0.348	T	0.21552	-1.0242	10	0.87932	D	0	-17.2616	10.4537	0.44537	0.256:0.6176:0.1264:0.0	.	368	Q5VTR2	BRE1A_HUMAN	W	368	ENSP00000373772:R368W	ENSP00000373772:R368W	R	+	1	2	RNF20	103352718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.192000	0.32150	2.810000	0.96702	0.650000	0.86243	CGG		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	829	0	0	0	1	0	7	829					T	104312897	C	T	104312897	3	4	47	1	0	0	0	0	1	0	0	0	13523	759	27	1	1136	1	RNF20	9	104312897	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	2488345	104312897	36900534	158	5741											
ZNF462	58499	broad.mit.edu	37	chr9	109690583	109690583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctagcttcagccaaccccGccatatcctccaccccatac	4	20	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:109690583G>A	ENST00000277225.5	+	3	4679	c.4390G>A	c.(4390-4392)Gcc>Acc	p.A1464T	ZNF462_ENST00000441147.2_Missense_Mutation_p.A309T|ZNF462_ENST00000457913.1_Missense_Mutation_p.A1464T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1464					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCAACCCCGCCATATCCTC	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4390-4392)Gcc>Acc		zinc finger protein 462							52	53	53					9																	109690583		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690583G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4390G>A	9.37:g.109690583G>A	ENSP00000277225:p.Ala1464Thr					ZNF462_ENST00000457913.1_Missense_Mutation_p.A1464T|ZNF462_ENST00000441147.2_Missense_Mutation_p.A309T	p.A1464T			Q96JM2	ZN462_HUMAN			3	4679	+			1464					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4390G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354926	0.61293	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05447	3.44;3.86;3.97;3.98	5.84	5.84	0.93424	.	0.050711	0.85682	D	0.000000	T	0.10380	0.0254	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.982;0.996	P;P	0.48770	0.589;0.557	T	0.06338	-1.0832	10	0.39692	T	0.17	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1464;1464	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	1464;1464;347;309	ENSP00000277225:A1464T;ENSP00000414570:A1464T;ENSP00000363818:A347T;ENSP00000397306:A309T	ENSP00000277225:A1464T	A	+	1	0	ZNF462	108730404	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.980000	0.76160	2.768000	0.95171	0.561000	0.74099	GCC		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	164	0	0	0	1	0	5	164					A	109690583	G	A	109690583	3	1	47	1	0	0	0	0	1	0	0	0	17979	1087	38	1	4396	1	ZNF462	9	109690583	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5377686	109690583	31522848	159	5742											
ZNF462	58499	broad.mit.edu	37	chr9	109691963	109691963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccagaagcgtgccaaaCgtcaggagaggaggaaacag	13	8	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:109691963C>T	ENST00000277225.5	+	3	6059	c.5770C>T	c.(5770-5772)Cgt>Tgt	p.R1924C	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.R769C|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1924C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1924					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCGTGCCAAACGTCAGGAGAG	0.453																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5770-5772)Cgt>Tgt		zinc finger protein 462							125	114	118					9																	109691963		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691963C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5770C>T	9.37:g.109691963C>T	ENSP00000277225:p.Arg1924Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.R1924C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R769C|ZNF462_ENST00000497489.1_3'UTR	p.R1924C			Q96JM2	ZN462_HUMAN			3	6059	+			1924					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5770C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943037	0.53079	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.83;3.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.00232	-1.1895	10	0.66056	D	0.02	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	1924;1924	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	1924;1924;807;769	ENSP00000277225:R1924C;ENSP00000414570:R1924C;ENSP00000363818:R807C;ENSP00000397306:R769C	ENSP00000277225:R1924C	R	+	1	0	ZNF462	108731784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.792000	0.69052	2.813000	0.96785	0.561000	0.74099	CGT		0.453	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		12	338	0	0	0	1	0	12	338					T	109691963	C	T	109691963	3	4	47	1	0	0	0	0	1	0	0	0	17979	536	19	1	5776	1	ZNF462	9	109691963	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1380	109691963	31521468	160	5743											
ACTL7B	10880	broad.mit.edu	37	chr9	111617940	111617940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagtccacttgcgggtgtCgccagcgtcggccgcctcgg	14	14	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:111617940C>T	ENST00000374667.3	-	1	1299	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	91						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCGGGTGTCGCCAGCGTCG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(271-273)Gac>Aac		actin-like 7B							65	65	65					9																	111617940		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617940C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.271G>A	9.37:g.111617940C>T	ENSP00000363799:p.Asp91Asn						p.D91N	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1299	-			91					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.271G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	1.290	-0.607799	0.03717	.	.	ENSG00000148156	ENST00000374667	D	0.97016	-4.21	4.27	4.27	0.50696	.	0.000000	0.35124	U	0.003430	D	0.95968	0.8687	L	0.45422	1.42	0.30232	N	0.795812	D	0.76494	0.999	D	0.64144	0.922	D	0.92698	0.6172	10	0.87932	D	0	.	7.9351	0.29925	0.0:0.8902:0.0:0.1098	.	91	Q9Y614	ACL7B_HUMAN	N	91	ENSP00000363799:D91N	ENSP00000363799:D91N	D	-	1	0	ACTL7B	110657761	0.034000	0.19679	0.861000	0.33841	0.043000	0.13939	1.283000	0.33237	2.203000	0.70933	0.655000	0.94253	GAC		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		167	186	0	0	0	1	0	167	186					T	111617940	C	T	111617940	3	4	47	1	0	0	0	0	1	0	0	0	201	884	31	1	980	1	ACTL7B	9	111617940	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1925977	111617940	29595491	161	5744											
ACTL7A	10881	broad.mit.edu	37	chr9	111625720	111625720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtggcttccctaaccGtctgcagaaggagctaagca	11	12	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:111625720G>A	ENST00000333999.3	+	1	1118	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCCCTAACCGTCTGCAGAAG	0.587																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1117-1119)cGt>cAt		actin-like 7A							116	93	100					9																	111625720		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625720G>A	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1118G>A	9.37:g.111625720G>A	ENSP00000334300:p.Arg373His						p.R373H	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	1118	+			373					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.1118G>A	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120894	0.77436	.	.	ENSG00000187003	ENST00000333999	D	0.99353	-5.77	5.44	4.48	0.54585	.	0.000000	0.47093	D	0.000241	D	0.99554	0.9840	H	0.95328	3.655	0.47819	D	0.999521	D	0.89917	1.0	D	0.97110	1.0	D	0.97847	1.0272	10	0.87932	D	0	.	13.7185	0.62712	0.0:0.1556:0.8444:0.0	.	373	Q9Y615	ACL7A_HUMAN	H	373	ENSP00000334300:R373H	ENSP00000334300:R373H	R	+	2	0	ACTL7A	110665541	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	6.690000	0.74567	2.715000	0.92844	0.655000	0.94253	CGT		0.587	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		130	174	0	0	0	1	0	130	174					A	111625720	G	A	111625720	3	1	47	1	0	0	0	0	1	0	0	0	200	1145	40	1	1120	1	ACTL7A	9	111625720	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7780	111625720	29587711	162	5745											
SVEP1	79987	broad.mit.edu	37	chr9	113166756	113166756	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaggactgcaggagattcTctcagggaaccagcgaccat	11	10	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:113166756T>A	ENST00000401783.2	-	39	9853	c.9517A>T	c.(9517-9519)Aga>Tga	p.R3173*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R3150*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.R1099*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3173	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGAGATTCTCTCAGGGAAC	0.423																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9517-9519)Aga>Tga		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							266	259	261					9																	113166756		1891	4112	6003	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166756T>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9517A>T	9.37:g.113166756T>A	ENSP00000384917:p.Arg3173*					SVEP1_ENST00000297826.5_Nonsense_Mutation_p.R1099*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R3150*	p.R3173*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9853	-			3173			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.9517A>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	51	18.088383	0.99899	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.76	5.76	0.90799	.	0.591351	0.19779	N	0.106273	.	.	.	.	.	.	0.33875	D	0.635453	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.4141	0.44311	0.0:0.0727:0.0:0.9273	.	.	.	.	X	3173;3150;1099	.	ENSP00000297826:R1099X	R	-	1	2	SVEP1	112206577	0.018000	0.18449	0.151000	0.22473	0.097000	0.18754	1.991000	0.40727	2.200000	0.70718	0.482000	0.46254	AGA		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	1212	0	0	0	1	0	8	1212					A	113166756	T	A	113166756	4	1	47	1	0	0	0	0	0	1	0	0	15472	1559	54	5	1238	5	SVEP1	9	113166756	Nonsense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	1541036	113166756	28046675	163	5746											
ASTN2	23245	broad.mit.edu	37	chr9	119976846	119976846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgcagccgggatgaaCggaagctctcccgcgcctgg	16	12	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:119976846C>T	ENST00000313400.4	-	3	906	c.806G>A	c.(805-807)cGt>cAt	p.R269H	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H|ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H			O75129	ASTN2_HUMAN	astrotactin 2	269					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R269H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGGATGAACGGAAGCTCTC	0.602																																						ENST00000313400.4																			1	Substitution - Missense(1)	p.R269H(1)	large_intestine(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(805-807)cGt>cAt		astrotactin 2							93	81	85					9																	119976846		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976846C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.806G>A	9.37:g.119976846C>T	ENSP00000314038:p.Arg269His					ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H	p.R269H			O75129	ASTN2_HUMAN			3	906	-			269					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.806G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088561	0.76756	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24723	2.0;1.99;1.84	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.38374	0.1038	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	T	0.11397	-1.0589	9	.	.	.	-18.1473	18.6589	0.91465	0.0:1.0:0.0:0.0	.	269;269;269	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	269	ENSP00000314038:R269H;ENSP00000363108:R269H;ENSP00000354504:R269H	.	R	-	2	0	ASTN2	119016667	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.054000	0.71096	2.491000	0.84063	0.655000	0.94253	CGT		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		90	163	0	0	0	1	0	90	163					T	119976846	C	T	119976846	3	4	47	1	0	0	0	0	1	0	0	0	1066	536	19	1	3372	1	ASTN2	9	119976846	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	6810090	119976846	21236585	164	5747											
DBC1	1620	broad.mit.edu	37	chr9	121930086	121930086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagggacatgcgcttgCgccaccgagggtcaaagaag	16	9	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:121930086C>T	ENST00000265922.3	-	8	2023	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	521					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CATGCGCTTGCGCCACCGAGG	0.562																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1561-1563)cGc>cAc									171	127	142					9																	121930086		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930086C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1562G>A	9.37:g.121930086C>T	ENSP00000265922:p.Arg521His					DBC1_ENST00000482797.1_Intron	p.R521H	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2023	-			521					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1562G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684791	0.88639	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20463	2.07	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.35450	-0.9788	10	0.87932	D	0	-23.0972	19.91	0.97023	0.0:1.0:0.0:0.0	.	521	O60477	DBC1_HUMAN	H	521	ENSP00000265922:R521H	ENSP00000265922:R521H	R	-	2	0	DBC1	120969907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.702000	0.92279	0.655000	0.94253	CGC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		5	184	0	0	0	1	0	5	184					T	121930086	C	T	121930086	3	4	47	1	0	0	0	0	1	0	0	0	4258	768	27	1	727	1	DBC1	9	121930086	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1953240	121930086	19283345	165	5748											
RALGPS1	9649	broad.mit.edu	37	chr9	129728136	129728136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacagggcagcagcagctCggactctctggagggccaga	14	13	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:129728136C>T	ENST00000259351.5	+	3	338	c.71C>T	c.(70-72)tCg>tTg	p.S24L	RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	24	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGCAGCAGCTCGGACTCTCTG	0.532																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(70-72)tCg>tTg		Ral GEF with PH domain and SH3 binding motif 1							84	81	82					9																	129728136		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129728136C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.71C>T	9.37:g.129728136C>T	ENSP00000259351:p.Ser24Leu					RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L	p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			3	338	+			24			Poly-Ser.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.71C>T	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778406	0.70107	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.410909	0.21739	N	0.069846	T	0.43366	0.1244	L	0.55481	1.735	0.54753	D	0.999987	D;D;D;D	0.67145	0.985;0.996;0.991;0.957	B;P;P;B	0.51945	0.265;0.685;0.452;0.17	T	0.15636	-1.0430	10	0.40728	T	0.16	.	18.2758	0.90083	0.0:1.0:0.0:0.0	.	24;24;24;24	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	24	ENSP00000259351:S24L;ENSP00000415630:S24L;ENSP00000377590:S24L;ENSP00000377579:S24L;ENSP00000317149:S24L;ENSP00000362535:S24L;ENSP00000362533:S24L	ENSP00000259351:S24L	S	+	2	0	RALGPS1	128767957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	2.607000	0.88179	0.561000	0.74099	TCG		0.532	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		5	371	0	0	0	1	0	5	371					T	129728136	C	T	129728136	3	4	47	1	0	0	0	0	1	0	0	0	13067	893	31	1	77	1	RALGPS1	9	129728136	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	7798050	129728136	11485295	166	5749											
FAM129B	64855	broad.mit.edu	37	chr9	130269516	130269516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacctgcttggcgcgccGtcgcttttccgagagggtgg	15	13	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:130269516G>A	ENST00000373312.3	-	14	2062	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R604W|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	617					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGGCGCGCCGTCGCTTTTCC	0.701																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1849-1851)Cgg>Tgg		family with sequence similarity 129, member B							30	30	30					9																	130269516		2201	4297	6498	SO:0001583	missense	64855						protein binding	g.chr9:130269516G>A	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.1849C>T	9.37:g.130269516G>A	ENSP00000362409:p.Arg617Trp					FAM129B_ENST00000373314.3_Missense_Mutation_p.R604W|FAM129B_ENST00000468379.1_5'UTR	p.R617W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2062	-			617					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1849C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091661	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.28666	1.61;1.6	5.25	3.34	0.38264	.	0.287571	0.35677	N	0.003041	T	0.42200	0.1192	L	0.59436	1.845	0.39887	D	0.97372	D;D	0.71674	0.998;0.998	P;P	0.59012	0.85;0.85	T	0.31081	-0.9956	10	0.52906	T	0.07	-27.9416	8.046	0.30549	0.0858:0.0:0.7502:0.164	.	604;617	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	604;267;617	ENSP00000362411:R604W;ENSP00000362409:R617W	ENSP00000362409:R617W	R	-	1	2	FAM129B	129309337	0.888000	0.30383	0.928000	0.36995	0.974000	0.67602	1.184000	0.32053	0.650000	0.30769	0.561000	0.74099	CGG		0.701	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	150	0	0	0	1	0	9	150					A	130269516	G	A	130269516	3	1	47	1	0	0	0	0	1	0	0	0	5458	1144	40	1	395	1	FAM129B	9	130269516	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	541380	130269516	10943915	167	5750											
SH2D3C	10044	broad.mit.edu	37	chr9	130507312	130507312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggctcactggaacggCgggcgacaggggaggcaggc	21	10	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:130507312C>T	ENST00000314830.8	-	7	1444	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R90H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R286H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R284H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R376H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R287H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	444					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTGGAACGGCGGGCGACAGG	0.647																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1330-1332)cGc>cAc		SH2 domain containing 3C							26	35	32					9																	130507312		2202	4295	6497	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507312C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1331G>A	9.37:g.130507312C>T	ENSP00000317817:p.Arg444His					SH2D3C_ENST00000420366.1_Missense_Mutation_p.R286H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R90H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R284H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R287H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R376H	p.R444H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1444	-			444					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1331G>A	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381718|4.381718	0.82792|0.82792	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.|T;T;T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98;0.98;0.98	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63117|0.63117	0.2484|0.2484	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.959;0.959;0.997;0.999;0.982	T|T	0.64993|0.64993	-0.6276|-0.6276	5|10	.|0.56958	.|D	.|0.05	-24.8451|-24.8451	17.5083|17.5083	0.87753|0.87753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284;444;376;287;286	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	T|H	281|287;286;376;284;90;444	.|ENSP00000362374:R287H;ENSP00000388536:R286H;ENSP00000362373:R376H;ENSP00000362371:R284H;ENSP00000394632:R90H;ENSP00000317817:R444H	.|ENSP00000317817:R444H	A|R	-|-	1|2	0|0	SH2D3C|SH2D3C	129547133|129547133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	6.665000|6.665000	0.74442|0.74442	2.371000|2.371000	0.80710|0.80710	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.647	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		127	157	0	0	0	1	0	127	157					T	130507312	C	T	130507312	3	4	47	1	0	0	0	0	1	0	0	0	14284	768	27	1	1275	1	SH2D3C	9	130507312	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	237796	130507312	10706119	168	5751											
COL5A1	1289	broad.mit.edu	37	chr9	137622301	137622301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattcccaccagcaccgccGacacctccaactcctccaat	3	20	0	0	rs148288567		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:137622301G>A	ENST00000371817.3	+	7	1558	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	382	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCACCGCCGACACCTCCAA	0.622																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1144-1146)Gac>Aac		collagen, type V, alpha 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	59	59	59		1144	-1.6	0	9	dbSNP_134	59	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	382/1839	137622301	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622301G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1144G>A	9.37:g.137622301G>A	ENSP00000360882:p.Asp382Asn						p.D382N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1558	+		Myeloproliferative disorder(178;0.0341)	382			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1144G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	3.520	-0.097928	0.07010	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89196	-2.48	4.52	-1.57	0.08506	.	3.287560	0.02379	U	0.078670	T	0.75019	0.3793	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.63829	-0.6548	10	0.17832	T	0.49	.	4.5987	0.12343	0.4453:0.3622:0.1925:0.0	.	382	P20908	CO5A1_HUMAN	N	382	ENSP00000360882:D382N	ENSP00000360882:D382N	D	+	1	0	COL5A1	136762122	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	-0.163000	0.10946	0.563000	0.77884	GAC		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		15	315	0	0	0	1	0	15	315					A	137622301	G	A	137622301	3	1	47	1	0	0	0	0	1	0	0	0	3705	1058	37	1	1170	1	COL5A1	9	137622301	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7114989	137622301	3591130	169	5752											
COL5A1	1289	broad.mit.edu	37	chr9	137721880	137721880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcagtgaattcaagcGtgggaaactggtaaggtggc	15	6	2	1	rs193275092	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:137721880G>A	ENST00000371817.3	+	64	5540	c.5126G>A	c.(5125-5127)cGt>cAt	p.R1709H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1709	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.R1709H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATTCAAGCGTGGGAAACTG	0.537													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16246	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			1	Substitution - Missense(1)	p.R1709H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5125-5127)cGt>cAt		collagen, type V, alpha 1		G	HIS/ARG	0,4406		0,0,2203	83	78	80		5126	5	1	9		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1709/1839	137721880	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137721880G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5126G>A	9.37:g.137721880G>A	ENSP00000360882:p.Arg1709His						p.R1709H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	64	5540	+		Myeloproliferative disorder(178;0.0341)	1709			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5126G>A	CCDS6982.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.45	3.627734	0.66901	0.0	1.16E-4	ENSG00000130635	ENST00000371817	T	0.73575	-0.76	4.99	4.99	0.66335	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	T	0.76564	0.4005	M	0.87682	2.9	0.53688	D	0.999972	P	0.34724	0.465	B	0.21151	0.033	T	0.81226	-0.1029	10	0.66056	D	0.02	.	18.6249	0.91333	0.0:0.0:1.0:0.0	.	1709	P20908	CO5A1_HUMAN	H	1709	ENSP00000360882:R1709H	ENSP00000360882:R1709H	R	+	2	0	COL5A1	136861701	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.918000	0.87506	2.453000	0.82957	0.655000	0.94253	CGT		0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	183	0	0	0	1	0	9	183					A	137721880	G	A	137721880	3	1	47	1	0	0	0	0	1	0	0	0	3705	1145	40	1	5380	1	COL5A1	9	137721880	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	99579	137721880	3491551	170	5753											
GRIN1	2902	broad.mit.edu	37	chr9	140036550	140036550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacacagccggcttctaccGcatacccgtgctggggctga	11	15	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:140036550G>A	ENST00000371561.3	+	2	1441	c.344G>A	c.(343-345)cGc>cAc	p.R115H	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.R115H|GRIN1_ENST00000350902.5_Missense_Mutation_p.R115H|GRIN1_ENST00000371560.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371546.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371555.4_Missense_Mutation_p.R115H|GRIN1_ENST00000315048.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371550.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371559.4_Missense_Mutation_p.R115H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	115					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTTCTACCGCATACCCGTG	0.627																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(343-345)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						303	239	261					9																	140036550		2203	4300	6503	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140036550G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.344G>A	9.37:g.140036550G>A	ENSP00000360616:p.Arg115His					GRIN1_ENST00000371559.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371560.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371550.4_Missense_Mutation_p.R115H|GRIN1_ENST00000315048.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371553.3_Missense_Mutation_p.R115H|GRIN1_ENST00000350902.5_Missense_Mutation_p.R115H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371555.4_Missense_Mutation_p.R115H	p.R115H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	2	1441	+	all_cancers(76;0.0926)		115					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.344G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253210	0.39797	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	3.37	3.37	0.38596	Extracellular ligand-binding receptor (1);	0.064954	0.64402	D	0.000016	T	0.27098	0.0664	N	0.17800	0.525	0.58432	D	0.999996	D;B;D;D;D;B	0.89917	1.0;0.047;1.0;1.0;1.0;0.336	D;B;D;D;D;B	0.74348	0.983;0.032;0.921;0.921;0.967;0.06	T	0.03555	-1.1025	10	0.18710	T	0.47	.	13.8091	0.63252	0.0:0.0:1.0:0.0	.	115;115;115;115;115;115	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	H	115	ENSP00000360616:R115H;ENSP00000316696:R115H;ENSP00000316915:R115H;ENSP00000360605:R115H;ENSP00000360601:R115H;ENSP00000360610:R115H;ENSP00000360608:R115H;ENSP00000360614:R115H;ENSP00000360615:R115H	ENSP00000316696:R115H	R	+	2	0	GRIN1	139156371	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.004000	0.76317	1.887000	0.54652	0.462000	0.41574	CGC		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		6	557	0	0	0	1	0	6	557					A	140036550	G	A	140036550	3	1	47	1	0	0	0	0	1	0	0	0	6808	1087	38	1	350	1	GRIN1	9	140036550	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2314670	140036550	1176881	171	5754											
TUBB8	347688	broad.mit.edu	37	chr10	94582	94582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagttgtctggcctgaagaCctgcccgaagggccccgagc	14	13	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:94582C>A	ENST00000309812.4	-	3	312	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	TUBB8_ENST00000447903.2_Missense_Mutation_p.V12F|TUBB8_ENST00000332708.5_Missense_Mutation_p.R47S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	84					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCCTGAAGACCTGCCCGAAG	0.662																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(34-36)Gtc>Ttc		tubulin, beta 8 class VIII							45	55	52					10																	94582		2202	4298	6500	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94582C>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.250G>T	10.37:g.94582C>A	ENSP00000311042:p.Val84Phe					TUBB8_ENST00000332708.5_Missense_Mutation_p.R47S|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V84F	p.V12F			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	3	349	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	84					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.34G>T	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.041|1.041	-0.678870|-0.678870	0.03378|0.03378	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000332708|ENST00000447903;ENST00000328974;ENST00000309812	.|T;T	.|0.69685	.|-0.42;-0.42	0.109|0.109	-0.218|-0.218	0.13142|0.13142	.|Tubulin/FtsZ, GTPase domain (4);	.|0.338775	.|0.19220	.|U	.|0.119688	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.08118|0.08118	0|0	0.25793|0.25793	N|N	0.984597|0.984597	.|B	.|0.31274	.|0.317	.|B	.|0.32583	.|0.148	T|T	0.28870|0.28870	-1.0030|-1.0030	6|10	0.87932|0.87932	D|D	0|0	.|.	3.8107|3.8107	0.08795|0.08795	0.0:0.3434:0.0:0.6566|0.0:0.3434:0.0:0.6566	.|.	.|84	.|Q3ZCM7	.|TBB8_HUMAN	S|F	47|12;84;84	.|ENSP00000403895:V12F;ENSP00000311042:V84F	ENSP00000371071:R47S|ENSP00000311042:V84F	R|V	-|-	3|1	2|0	RP11-631M21.2|RP11-631M21.2	84582|84582	0.939000|0.939000	0.31865|0.31865	0.007000|0.007000	0.13788|0.13788	0.007000|0.007000	0.05969|0.05969	-0.116000|-0.116000	0.10724|0.10724	-1.122000|-1.122000	0.02945|0.02945	-1.109000|-1.109000	0.02080|0.02080	AGG|GTC		0.662	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	189	1	0	1.26484e-09	1	1.34412e-09	5	189					A	94582	C	A	94582	3	1	47	1	0	0	0	0	1	0	0	0	16815	507	18	3	1092	3	TUBB8	10	94582	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		94582	135440165	172	5755											
PFKP	5214	broad.mit.edu	37	chr10	3178679	3178679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtggtggctcaagctaCggcccctcatgaaaatcctg	10	12	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:3178679C>T	ENST00000381125.4	+	22	2339	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	PFKP_ENST00000381075.2_Missense_Mutation_p.R747W|PFKP_ENST00000381072.1_Missense_Mutation_p.R173W|PITRM1_ENST00000464395.1_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	755	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCTCAAGCTACGGCCCCTCAT	0.592																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2239-2241)Cgg>Tgg		phosphofructokinase, platelet							59	48	52					10																	3178679		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178679C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2263C>T	10.37:g.3178679C>T	ENSP00000370517:p.Arg755Trp					PFKP_ENST00000381072.1_Missense_Mutation_p.R173W|PFKP_ENST00000381125.4_Missense_Mutation_p.R755W	p.R747W	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	24	2463	+			755					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2239C>T	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	c	19.92	3.916947	0.73098	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.81078	-1.45;-1.45;-1.45	5.14	3.14	0.36123	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.90597	0.7052	M	0.89715	3.055	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	0.92303	0.5851	10	0.87932	D	0	.	13.5335	0.61635	0.2836:0.7164:0.0:0.0	.	747;747;755	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	W	755;744;747;173	ENSP00000370517:R755W;ENSP00000370465:R747W;ENSP00000370462:R173W	ENSP00000370462:R173W	R	+	1	2	PFKP	3168679	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	2.312000	0.43726	1.149000	0.42402	-0.521000	0.04368	CGG		0.592	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		7	62	0	0	0	1	0	7	62					T	3178679	C	T	3178679	3	4	47	1	0	0	0	0	1	0	0	0	11808	527	19	1	2349	1	PFKP	10	3178679	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3084097	3178679	132356068	173	5756											
KIAA1462	57608	broad.mit.edu	37	chr10	30315575	30315575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagcctgaggagcccGcctggcactgtccctgtccc	10	17	1	1	rs368139420		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:30315575G>A	ENST00000375377.1	-	3	3603	c.3502C>T	c.(3502-3504)Cgg>Tgg	p.R1168W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1168					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGAGGAGCCCGCCTGGCACTG	0.602																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3502-3504)Cgg>Tgg		KIAA1462							71	74	73					10																	30315575		1875	4113	5988	SO:0001583	missense	57608							g.chr10:30315575G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3502C>T	10.37:g.30315575G>A	ENSP00000364526:p.Arg1168Trp						p.R1168W	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3603	-			1168					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3502C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882896	0.51908	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	4.16	0.249	0.15531	.	0.692628	0.12901	N	0.429779	T	0.29223	0.0727	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.10474	-1.0628	10	0.66056	D	0.02	-8.6314	11.3977	0.49851	0.0:0.0:0.4667:0.5333	.	1168	Q9P266	K1462_HUMAN	W	1168	ENSP00000364526:R1168W	ENSP00000364526:R1168W	R	-	1	2	KIAA1462	30355581	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.953000	0.03877	0.291000	0.22468	-0.182000	0.12963	CGG		0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		22	236	0	0	0	1	0	22	236					A	30315575	G	A	30315575	3	1	47	1	0	0	0	0	1	0	0	0	8264	1086	38	1	585	1	KIAA1462	10	30315575	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	27136896	30315575	105219172	174	5757											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	746						9	746	---	---	---	---	-	81070789	CTC	-	81070787	7	5	47	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-FB-AAPP-01A-12D-A40W-08	50755212	81070787	54463960	175	5758											
CDHR1	92211	broad.mit.edu	37	chr10	85973848	85973848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttcagaccctctcccGgagccccatggctgccttcc	7	19	3	1	rs144225118		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:85973848G>A	ENST00000372117.3	+	17	2154	c.2051G>A	c.(2050-2052)cGg>cAg	p.R684Q	CDHR1_ENST00000440770.2_Missense_Mutation_p.R388Q|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCTCTCCCGGAGCCCCATG	0.587																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2050-2052)cGg>cAg		cadherin-related family member 1							81	86	84					10																	85973848		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973848G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2051G>A	10.37:g.85973848G>A	ENSP00000361189:p.Arg684Gln					CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R388Q	p.R684Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2154	+			684			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2051G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	9.940	1.217147	0.22373	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.55588	0.63;0.51	5.42	3.49	0.39957	Cadherin (2);	0.361967	0.29066	N	0.013243	T	0.33990	0.0882	L	0.50333	1.59	0.09310	N	1	P;P	0.50066	0.487;0.931	B;B	0.36534	0.015;0.227	T	0.18116	-1.0347	10	0.13470	T	0.59	-15.919	3.8891	0.09111	0.2296:0.2022:0.5682:0.0	.	388;684	E7EN47;Q96JP9	.;CDHR1_HUMAN	Q	684;388	ENSP00000361189:R684Q;ENSP00000415980:R388Q	ENSP00000361189:R684Q	R	+	2	0	CDHR1	85963828	1.000000	0.71417	0.018000	0.16275	0.011000	0.07611	1.750000	0.38329	1.207000	0.43291	0.655000	0.94253	CGG		0.587	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	528	0	0	0	1	0	8	528					A	85973848	G	A	85973848	3	1	47	1	0	0	0	0	1	0	0	0	3127	1116	39	1	2117	1	CDHR1	10	85973848	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4903061	85973848	49560899	176	5759											
CYP2C18	1562	broad.mit.edu	37	chr10	96466679	96466679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggacatgaacagtgctCgggactttattgattgtttc	10	9	0	2	rs184571563		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:96466679C>T	ENST00000285979.6	+	5	980	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	261					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAACAGTGCTCGGGACTTTAT	0.328													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17162	0.0		0.0	False		,,,				2504	0.0					ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(781-783)Cgg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18			TRP/ARG,	0,4406		0,0,2203	94	93	93		781,	2.7	1	10		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CYP2C18	NM_000772.2,NM_001128925.1	101,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	261/491,	96466679	1,13005	2203	4300	6503	SO:0001583	missense	1562							g.chr10:96466679C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.781C>T	10.37:g.96466679C>T	ENSP00000285979:p.Arg261Trp					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	p.R261W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	5	980	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.781C>T	CCDS7435.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	9.652	1.141846	0.21205	0.0	1.16E-4	ENSG00000108242	ENST00000285979	T	0.71461	-0.57	3.65	2.71	0.32032	.	0.328007	0.28257	U	0.016011	T	0.81019	0.4736	H	0.98883	4.36	0.28368	N	0.92014	P	0.50272	0.933	B	0.44085	0.44	T	0.78833	-0.2048	10	0.87932	D	0	.	6.4311	0.21796	0.2097:0.5865:0.2038:0.0	.	261	P33260	CP2CI_HUMAN	W	261	ENSP00000285979:R261W	ENSP00000285979:R261W	R	+	1	2	CYP2C18	96456669	0.992000	0.36948	0.985000	0.45067	0.219000	0.24729	1.778000	0.38614	0.826000	0.34661	0.306000	0.20318	CGG		0.328	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		5	373	0	0	0	1	0	5	373					T	96466679	C	T	96466679	3	4	47	1	0	0	0	0	1	0	0	0	4176	875	31	1	799	1	CYP2C18	10	96466679	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	10492831	96466679	39068068	177	5760											
PYROXD2	84795	broad.mit.edu	37	chr10	100152219	100152219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaggaaggtgatctgCggtgatgtgttggacagcac	15	7	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:100152219C>T	ENST00000370575.4	-	10	1080	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	344							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGGTGATCTGCGGTGATGTGT	0.537																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1030-1032)ccG>ccA		pyridine nucleotide-disulphide oxidoreductase domain 2							231	162	186					10																	100152219		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152219C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1032G>A	10.37:g.100152219C>T						PYROXD2_ENST00000483923.1_5'UTR	p.P344P	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			10	1080	-			344					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1032G>A	CCDS7474.1																																																																																				0.537	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		48	240	0	0	0	1	0	48	240					T	100152219	C	T	100152219	2	4	47	1	0	0	0	0	0	0	0	1	12917	755	27	1		1	PYROXD2	10	100152219	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3685540	100152219	35382528	178	5761											
SCD	6319	broad.mit.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-													tccagatctctagctcctatAccaccaccaccaccattaca							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(43-45)del		stearoyl-CoA desaturase (delta-9-desaturase)																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	424_426	+		Colorectal(252;0.0323)	19					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		9	889						9	889	---	---	---	---	-	102107838	ACC	-	102107836	7	5	47	1	0	1	0	1	0	0	0	0	13936	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-FB-AAPP-01A-12D-A40W-08	1955617	102107836	33426911	179	5762											
VAX1	11023	broad.mit.edu	37	chr10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgcgtcctcttaggccGgtccaagtccaggcccttgg	13	15	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:118896117G>A	ENST00000369206.5	-	2	294	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000277905.2_Missense_Mutation_p.R99W	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657																																						ENST00000277905.2																			4	Substitution - Missense(4)	p.R99W(4)	lung(4)	endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(295-297)Cgg>Tgg		ventral anterior homeobox 1							53	47	49					10																	118896117		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896117G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.295C>T	10.37:g.118896117G>A	ENSP00000358207:p.Arg99Trp					VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	539	-			99					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.295C>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.116981	0.56505	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96073	-3.9;-3.9	3.9	1.9	0.25705	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.96228	0.8770	L	0.60455	1.87	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79108	0.958;0.992	D	0.94889	0.8046	10	0.87932	D	0	-15.033	9.7636	0.40548	0.0:0.1531:0.6881:0.1588	.	99;99	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	W	99	ENSP00000277905:R99W;ENSP00000358207:R99W	ENSP00000277905:R99W	R	-	1	2	VAX1	118886107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.303000	0.78871	0.265000	0.21872	0.305000	0.20034	CGG		0.657	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		5	253	0	0	0	1	0	5	253					A	118896117	G	A	118896117	3	1	47	1	0	0	0	0	1	0	0	0	17188	1115	39	1	857	1	VAX1	10	118896117	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	16788281	118896117	16638630	180	5763											
HTRA1	5654	broad.mit.edu	37	chr10	124273729	124273729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctcaaggaaaacgacGtcataatcagcatcaatgga	10	8	4	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124273729G>A	ENST00000368984.3	+	9	1425	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGAAAACGACGTCATAATCAG	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1297-1299)Gtc>Atc		HtrA serine peptidase 1							334	302	313					10																	124273729		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273729G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1297G>A	10.37:g.124273729G>A	ENSP00000357980:p.Val433Ile						p.V433I	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			9	1425	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	433			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1297G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158414	0.21454	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.27104	1.69;1.69	5.38	4.48	0.54585	PDZ/DHR/GLGF (4);	0.063434	0.64402	D	0.000006	T	0.19565	0.0470	L	0.38531	1.155	0.52099	D	0.999941	B	0.21905	0.062	B	0.28638	0.092	T	0.06006	-1.0851	10	0.18710	T	0.47	-13.2088	8.8295	0.35076	0.225:0.0:0.775:0.0	.	433	Q92743	HTRA1_HUMAN	I	433;400;174	ENSP00000357980:V433I;ENSP00000412676:V174I	ENSP00000357980:V433I	V	+	1	0	HTRA1	124263719	1.000000	0.71417	0.912000	0.35992	0.783000	0.44284	5.345000	0.65987	1.265000	0.44215	0.655000	0.94253	GTC		0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		23	1062	0	0	0	1	0	23	1062					A	124273729	G	A	124273729	3	1	47	1	0	0	0	0	1	0	0	0	7483	1145	40	1	1331	1	HTRA1	10	124273729	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5377612	124273729	11261018	181	5764											
DMBT1	1755	broad.mit.edu	37	chr10	124377583	124377583	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatggaggtgacaggtgtCgaggccgagtggaggtccta	18	6	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124377583C>T	ENST00000338354.3	+	38	4661	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1519	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACAGGTGTCGAGGCCGAGT	0.572																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4555-4557)Cga>Tga		deleted in malignant brain tumors 1							355	354	355					10																	124377583		2044	4206	6250	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377583C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4555C>T	10.37:g.124377583C>T	ENSP00000342210:p.Arg1519*					DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370*	p.R1519*			Q9UGM3	DMBT1_HUMAN			38	4661	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1519			SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.4555C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.433746	0.97564	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	3.87	1.76	0.24704	.	1940.690000	0.00664	U	0.000607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.0765	0.59089	0.0:0.3998:0.6002:0.0	.	.	.	.	X	1519;1648;1519;1519;1519;1519;891;1509;891;891;1519;1509;891;370	.	ENSP00000331522:R891X	R	+	1	2	DMBT1	124367573	0.000000	0.05858	0.818000	0.32626	0.215000	0.24574	-0.087000	0.11215	0.743000	0.32719	0.298000	0.19748	CGA		0.572	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		43	1588	0	0	0	1	0	43	1588					T	124377583	C	T	124377583	4	4	47	1	0	0	0	0	0	1	0	0	4593	876	31	1	4705	1	DMBT1	10	124377583	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	103854	124377583	11157164	182	5765											
DMBT1	1755	broad.mit.edu	37	chr10	124380681	124380681	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgtgtgtgatgacagctGggacaccaatgatgccaatg	12	9	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124380681G>A	ENST00000338354.3	+	41	5112	c.5006G>A	c.(5005-5007)tGg>tAg	p.W1669*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1669*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1669	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGACAGCTGGGACACCAAT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5005-5007)tGg>tAg		deleted in malignant brain tumors 1							237	239	238					10																	124380681		2031	4190	6221	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380681G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5006G>A	10.37:g.124380681G>A	ENSP00000342210:p.Trp1669*					DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1669*|DMBT1_ENST00000359586.6_Intron	p.W1669*			Q9UGM3	DMBT1_HUMAN			41	5112	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1669			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5006G>A		.	.	.	.	.	.	.	.	.	.	-	39	7.828183	0.98513	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	.	.	.	3.79	3.79	0.43588	.	0.000000	0.40554	U	0.001068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5889	0.76510	0.0:0.0:1.0:0.0	.	.	.	.	X	1669;1798;1669;1669;1669;1669;1041;1659;1041;1041;1669;1659;1041	.	ENSP00000331522:W1041X	W	+	2	0	DMBT1	124370671	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.257000	0.95545	2.068000	0.61886	0.461000	0.40582	TGG		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		34	1502	0	0	0	1	0	34	1502					A	124380681	G	A	124380681	4	1	47	1	0	0	0	0	0	1	0	0	4593	1357	47	2	5168	2	DMBT1	10	124380681	Nonsense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3098	124380681	11154066	183	5766											
C10orf91	170393	broad.mit.edu	37	chr10	134261371	134261371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgagagcgctttctctgCgtcagccccagcaccccagc	9	19	2	1	rs201692866	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:134261371C>T	ENST00000392630.3	+	3	305	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	C10orf91_ENST00000321248.2_Missense_Mutation_p.R82C|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	82										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTTCTCTGCGTCAGCCCCA	0.637													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15012	0.0		0.001	False		,,,				2504	0.0					ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(244-246)Cgt>Tgt		chromosome 10 open reading frame 91		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126	130	129		244	-2	0	10		129	0,8600		0,0,4300	no	missense	C10orf91	NM_173541.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	82/146	134261371	1,13005	2203	4300	6503	SO:0001583	missense	170393							g.chr10:134261371C>T	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.244C>T	10.37:g.134261371C>T	ENSP00000376407:p.Arg82Cys					C10orf91_ENST00000321248.2_Missense_Mutation_p.R82C|C10orf91_ENST00000490765.1_3'UTR	p.R82C	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	305	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	82					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.244C>T	CCDS7668.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.105	1.005234	0.19199	2.27E-4	0.0	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.07114	3.22;3.22	1.0	-2.0	0.07433	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.49477	0.612	T	0.23797	-1.0178	9	0.87932	D	0	.	2.1978	0.03916	0.0:0.2616:0.3187:0.4197	.	82	Q5T1B1	CJ091_HUMAN	C	82	ENSP00000376407:R82C;ENSP00000323241:R82C	ENSP00000323241:R82C	R	+	1	0	C10orf91	134111361	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.866000	0.00723	-0.856000	0.04120	-0.672000	0.03802	CGT		0.637	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		41	836	0	0	0	1	0	41	836					T	134261371	C	T	134261371	3	4	47	1	0	0	0	0	1	0	0	0	1629	768	27	1	254	1	C10orf91	10	134261371	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9880690	134261371	1273376	184	5767											
CYP2E1	1571	broad.mit.edu	37	chr10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgtaggccagcctttcGaccccaccttcctcatcggc	8	16	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)Gac>Aac		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						121	107	112					10																	135345639		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345639G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.499G>A	10.37:g.135345639G>A	ENSP00000440689:p.Asp167Asn					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR	p.D167N			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	771	+		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)	167					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.499G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC		0.552	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		10	565	0	0	0	1	0	10	565					A	135345639	G	A	135345639	3	1	47	1	0	0	0	0	1	0	0	0	4181	1058	37	1	513	1	CYP2E1	10	135345639	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1084268	135345639	189108	185	5768											
RRM1	6240	broad.mit.edu	37	chr11	4142834	4142834	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatttatttaccactagCgtcctggggcatttgctatt	8	8	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:4142834C>T	ENST00000300738.5	+	10	1081	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Splice_Site_p.R71C|RRM1_ENST00000423050.2_Splice_Site_p.R196C	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	293					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTACCACTAGCGTCCTGGGGC	0.373																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.e10-1		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						77	78	78					11																	4142834		2201	4298	6499	SO:0001630	splice_region_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4142834C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.877-1C>T	11.37:g.4142834C>T						RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Splice_Site_p.R71_splice|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000423050.2_Splice_Site_p.R196_splice	p.R293_splice	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	10	1081	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	293					Q9UNN2	Splice_Site	SNP	ENST00000300738.5	37	c.876_splice	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191792	0.78902	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838	T;T;T	0.75821	-0.97;-0.97;-0.97	5.4	5.4	0.78164	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94750	0.7926	10	0.87932	D	0	-7.231	11.9212	0.52793	0.2763:0.7237:0.0:0.0	.	293	P23921	RIR1_HUMAN	C	293;196;206;71;71	ENSP00000300738:R293C;ENSP00000390539:R196C;ENSP00000431464:R71C	ENSP00000300738:R293C	R	+	1	0	RRM1	4099410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.098000	0.57748	2.509000	0.84616	0.650000	0.86243	CGT		0.373	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	Missense_Mutation	19	210	0	0	0	1	0	19	210					T	4142834	C	T	4142834	5	4	47	1	0	0	0	0	0	0	1	0	13731	782	27	1	915	1	RRM1	11	4142834	Splice_Site	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		4142834	130863682	186	5769											
OR10A6	390093	broad.mit.edu	37	chr11	7950055	7950055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaacgtggaggctctggTctagggagacgatgactata	16	6	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:7950055T>C	ENST00000309838.2	-	1	154	c.155A>G	c.(154-156)gAc>gGc	p.D52G		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCTCTGGTCTAGGGAGAC	0.478																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(154-156)gAc>gGc		olfactory receptor, family 10, subfamily A, member 6							115	109	111					11																	7950055		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950055T>C	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.155A>G	11.37:g.7950055T>C	ENSP00000312470:p.Asp52Gly						p.D52G	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	154	-			52					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.155A>G	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	T	4.916	0.170226	0.09339	.	.	ENSG00000175393	ENST00000309838	T	0.02890	4.12	3.58	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.301034	0.22817	N	0.055272	T	0.06917	0.0176	M	0.93898	3.47	0.22266	N	0.999243	B	0.12013	0.005	B	0.09377	0.004	T	0.21449	-1.0245	10	0.72032	D	0.01	.	4.9496	0.14008	0.0:0.1058:0.1871:0.7072	.	52	Q8NH74	O10A6_HUMAN	G	52	ENSP00000312470:D52G	ENSP00000312470:D52G	D	-	2	0	OR10A6	7906631	0.006000	0.16342	0.744000	0.31058	0.013000	0.08279	1.337000	0.33862	0.230000	0.21059	0.533000	0.62120	GAC		0.478	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		11	410	0	0	0	1	0	11	410					C	7950055	T	C	7950055	3	2	47	1	0	0	0	0	1	0	0	0	10936	1667	58	4	792	4	OR10A6	11	7950055	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	3807221	7950055	127056461	187	5770											
C11orf41	25758	broad.mit.edu	37	chr11	33566734	33566734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcccagagcatccacGccacgcccactgacagtcac	9	17	1	3	rs375043401		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:33566734G>A	ENST00000321505.4	+	2	2484	c.2304G>A	c.(2302-2304)acG>acA	p.T768T	KIAA1549L_ENST00000265654.5_Silent_p.T774T|KIAA1549L_ENST00000389726.3_Silent_p.T774T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	768						integral component of membrane (GO:0016021)											GAGCATCCACGCCACGCCCAC	0.597																																						ENST00000321505.4																			0											c.(2302-2304)acG>acA		KIAA1549-like		G		0,4364		0,0,2182	107	131	123		2304	2.8	0.7	11		123	4,8554		0,4,4275	no	coding-synonymous	C11orf41	NM_012194.2		0,4,6457	AA,AG,GG		0.0467,0.0,0.031		768/1850	33566734	4,12918	2182	4279	6461	SO:0001819	synonymous_variant	25758							g.chr11:33566734G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2304G>A	11.37:g.33566734G>A						KIAA1549L_ENST00000389726.3_Silent_p.T774T|KIAA1549L_ENST00000265654.5_Silent_p.T774T	p.T768T							2	2484	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.2304G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	4.311	0.056954	0.08339	0.0	4.67E-4	ENSG00000110427	ENST00000526400	.	.	.	5.74	2.83	0.33086	.	.	.	.	.	T	0.53899	0.1825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	-19.8733	5.5286	0.16972	0.1325:0.5203:0.2751:0.0721	.	.	.	.	H	166	.	.	R	+	2	0	C11orf41	33523310	0.093000	0.21703	0.701000	0.30321	0.570000	0.35934	0.279000	0.18771	0.341000	0.23771	-0.311000	0.09066	CGC		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		269	173	0	0	0	1	0	269	173					A	33566734	G	A	33566734	2	1	47	1	0	0	0	0	0	0	0	1	1645	1074	38	1		1	C11orf41	11	33566734	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	25616679	33566734	101439782	188	5771											
ABTB2	25841	broad.mit.edu	37	chr11	34218997	34218997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagtgatgggctgtggCggctggcgggcctggcgggc	21	10	0	1	rs374255572	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:34218997C>T	ENST00000435224.2	-	3	1543	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P187P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	373					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGGGCTGTGGCGGCTGGCGGG	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		13187	0.0		0.0	False		,,,				2504	0.002					ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1117-1119)ccG>ccA		ankyrin repeat and BTB (POZ) domain containing 2		C		0,4404		0,0,2202	28	28	28		1119	-7.2	0.3	11		28	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ABTB2	NM_145804.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		373/1026	34218997	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34218997C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1119G>A	11.37:g.34218997C>T						ABTB2_ENST00000298992.2_Silent_p.P187P|ABTB2_ENST00000530814.1_5'UTR	p.P373P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			3	1543	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	187					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1119G>A	CCDS7890.2																																																																																				0.687	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	122	0	0	0	1	0	4	122					T	34218997	C	T	34218997	2	4	47	1	0	0	0	0	0	0	0	1	103	755	27	1		1	ABTB2	11	34218997	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	652263	34218997	100787519	189	5772											
NRXN2	9379	broad.mit.edu	37	chr11	64453315	64453315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgcgttgcagggtgcGgaaggccagtgtgatctcat	16	9	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:64453315G>A	ENST00000377551.1	-	5	1166	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	NRXN2_ENST00000265459.6_Missense_Mutation_p.R319C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R319C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R295C			Q9P2S2	NRX2A_HUMAN	neurexin 2	319	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAGGGTGCGGAAGGCCAGT	0.567																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(955-957)Cgc>Tgc		neurexin 2							366	291	317					11																	64453315		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64453315G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.955C>T	11.37:g.64453315G>A	ENSP00000366774:p.Arg319Cys					NRXN2_ENST00000377551.1_Missense_Mutation_p.R319C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R319C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R295C	p.R319C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			6	1416	-			319			Laminin G-like 2.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.955C>T	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.042915|4.042915	0.75732|0.75732	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|D;D;D;D;D	.|0.84516	.|-1.86;-1.81;-1.86;-1.86;-1.86	4.17|4.17	4.17|4.17	0.49024|0.49024	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.000000	.|0.44097	.|U	.|0.000496	D|D	0.91637|0.91637	0.7357|0.7357	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.628	.|D;B	.|0.76575	.|0.988;0.189	D|D	0.92845|0.92845	0.6292|0.6292	5|10	.|0.87932	.|D	.|0	.|.	14.3646|14.3646	0.66799|0.66799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|295;319	.|Q9P2S2-2;Q9P2S2	.|.;NRX2A_HUMAN	L|C	108|319;295;319;295;319;90	.|ENSP00000366774:R319C;ENSP00000366782:R295C;ENSP00000265459:R319C;ENSP00000386416:R319C;ENSP00000388971:R90C	.|ENSP00000265459:R319C	P|R	-|-	2|1	0|0	NRXN2|NRXN2	64209891|64209891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.587000|2.587000	0.46128|0.46128	2.062000|2.062000	0.61559|0.61559	0.467000|0.467000	0.42956|0.42956	CCG|CGC		0.567	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		8	323	0	0	0	1	0	8	323					A	64453315	G	A	64453315	3	1	47	1	0	0	0	0	1	0	0	0	10708	1116	39	1	4524	1	NRXN2	11	64453315	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	30234318	64453315	70553201	190	5773											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		8	856	0	0	0	1	0	8	856					T	71249545	C	T	71249545	2	4	47	1	0	0	0	0	0	0	0	1	8598	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	6796230	71249545	63756971	191	5774											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904292	74904292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgctgcagaccctaCgccaccccatcttcctgctg	10	17	1	1	rs543049597	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:74904292C>T	ENST00000289575.5	+	9	1500	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R347C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R142C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R114C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R253C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R142C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R225C	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	369					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCAGACCCTACGCCACCCCAT	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1105-1107)Cgc>Tgc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						82	77	78					11																	74904292		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904292C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1105C>T	11.37:g.74904292C>T	ENSP00000289575:p.Arg369Cys					SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R347C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R142C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R114C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R142C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R253C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R225C	p.R369C	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1500	+			369					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1105C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;D;D;D;D;D;T	0.83250	-0.01;-1.7;-1.7;-1.7;-1.7;-1.7;-0.01	5.21	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.291381	0.33401	N	0.004945	D	0.84552	0.5497	L	0.41632	1.29	0.50813	D	0.999895	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.82454	-0.0449	10	0.40728	T	0.16	.	6.5594	0.22478	0.1787:0.7296:0.0:0.0917	.	225;114;142;369	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	C	369;142;253;114;225;142;347	ENSP00000289575:R369C;ENSP00000341286:R142C;ENSP00000434112:R253C;ENSP00000432650:R114C;ENSP00000436324:R225C;ENSP00000389653:R142C;ENSP00000388912:R347C	ENSP00000289575:R369C	R	+	1	0	SLCO2B1	74581940	0.923000	0.31300	1.000000	0.80357	0.859000	0.49053	1.115000	0.31209	1.217000	0.43442	0.556000	0.70494	CGC		0.642	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	326	0	0	0	1	0	12	326					T	74904292	C	T	74904292	3	4	47	1	0	0	0	0	1	0	0	0	14777	536	19	1	1139	1	SLCO2B1	11	74904292	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3654747	74904292	60102224	192	5775											
TRPC6	7225	broad.mit.edu	37	chr11	101375374	101375374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcaccactgggatgttaCcatattcagctgcatccaaa	7	13	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:101375374C>T	ENST00000344327.3	-	2	750	c.326G>A	c.(325-327)gGt>gAt	p.G109D	TRPC6_ENST00000348423.4_Missense_Mutation_p.G109D|TRPC6_ENST00000532133.1_Missense_Mutation_p.G109D|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Missense_Mutation_p.G109D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	109					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGGATGTTACCATATTCAGC	0.483																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(325-327)gGt>gAt		transient receptor potential cation channel, subfamily C, member 6							160	149	153					11																	101375374		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375374C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.326G>A	11.37:g.101375374C>T	ENSP00000340913:p.Gly109Asp					TRPC6_ENST00000532133.1_Missense_Mutation_p.G109D|TRPC6_ENST00000360497.4_Missense_Mutation_p.G109D|TRPC6_ENST00000348423.4_Missense_Mutation_p.G109D	p.G109D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	750	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	109					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.326G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238460	0.79800	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.89658	3.05	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	0.89382	0.3682	10	0.87932	D	0	-15.2509	20.206	0.98277	0.0:1.0:0.0:0.0	.	109;109;109	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	D	109	ENSP00000340913:G109D;ENSP00000435574:G109D;ENSP00000343672:G109D;ENSP00000353687:G109D	ENSP00000340913:G109D	G	-	2	0	TRPC6	100880584	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GGT		0.483	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		280	225	0	0	0	1	0	280	225					T	101375374	C	T	101375374	3	4	47	1	0	0	0	0	1	0	0	0	16636	507	18	2	2517	2	TRPC6	11	101375374	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	26471082	101375374	33631142	193	5776											
USP28	57646	broad.mit.edu	37	chr11	113711433	113711433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccccagacttcacagcGttttctctttgagcgtttag	7	12	3	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:113711433G>A	ENST00000003302.4	-	5	489	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R141C|USP28_ENST00000545540.1_Missense_Mutation_p.R16C|USP28_ENST00000260188.5_Missense_Mutation_p.R141C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	141					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTTCACAGCGTTTTCTCTTT	0.423																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(421-423)Cgc>Tgc		ubiquitin specific peptidase 28							121	103	109					11																	113711433		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711433G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.421C>T	11.37:g.113711433G>A	ENSP00000003302:p.Arg141Cys					USP28_ENST00000545540.1_Missense_Mutation_p.R16C|USP28_ENST00000260188.5_Missense_Mutation_p.R141C|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R141C	p.R141C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	489	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	141					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.421C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193599	0.78902	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;T	0.35973	1.28;1.29;1.31;1.66	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.973;0.991;0.962;0.943	T	0.59643	-0.7416	10	0.62326	D	0.03	-14.2635	19.5331	0.95237	0.0:0.0:1.0:0.0	.	141;16;141;141	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	C	141;141;16;141;69	ENSP00000003302:R141C;ENSP00000260188:R141C;ENSP00000444991:R16C;ENSP00000445743:R141C	ENSP00000003302:R141C	R	-	1	0	USP28	113216643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.278000	0.65592	2.701000	0.92244	0.585000	0.79938	CGC		0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			6	281	0	0	0	1	0	6	281					A	113711433	G	A	113711433	3	1	47	1	0	0	0	0	1	0	0	0	17112	1145	40	1	2896	1	USP28	11	113711433	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	12336059	113711433	21295083	194	5777											
DSCAML1	57453	broad.mit.edu	37	chr11	117335865	117335865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccaatctggtagccccGgatgacaccgttctgcagct	11	13	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:117335865G>A	ENST00000321322.6	-	17	3239	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R810W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1080W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGCCCCGGATGACACCG	0.582																																						ENST00000321322.6																			1	Substitution - Missense(1)	p.R1080W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3238-3240)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							89	78	81					11																	117335865		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335865G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3238C>T	11.37:g.117335865G>A	ENSP00000315465:p.Arg1080Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R810W	p.R1080W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3239	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1020			Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3238C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477519	0.84640	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57752	0.38;0.38	4.78	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81276	-0.1006	9	0.62326	D	0.03	.	14.6688	0.68929	0.0:0.0:0.8543:0.1457	.	1020	Q8TD84	DSCL1_HUMAN	W	810;1080;787	ENSP00000434335:R810W;ENSP00000315465:R1080W	ENSP00000315465:R1080W	R	-	1	2	DSCAML1	116841075	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.801000	0.85960	1.206000	0.43276	0.561000	0.74099	CGG		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		20	245	0	0	0	1	0	20	245					A	117335865	G	A	117335865	3	1	47	1	0	0	0	0	1	0	0	0	4785	1115	39	1	3171	1	DSCAML1	11	117335865	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3624432	117335865	17670651	195	5778											
TECTA	7007	broad.mit.edu	37	chr11	121033012	121033012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtgcggctccctggcCgcctacggggaggcctgccg	16	16	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:121033012C>T	ENST00000392793.1	+	16	5476	c.5205C>T	c.(5203-5205)gcC>gcT	p.A1735A	TECTA_ENST00000264037.2_Silent_p.A1735A			O75443	TECTA_HUMAN	tectorin alpha	1735					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTCCCTGGCCGCCTACGGGG	0.547																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5203-5205)gcC>gcT		tectorin alpha							28	30	29					11																	121033012		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121033012C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5205C>T	11.37:g.121033012C>T						TECTA_ENST00000264037.2_Silent_p.A1735A	p.A1735A			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5476	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1735						Silent	SNP	ENST00000392793.1	37	c.5205C>T	CCDS8434.1																																																																																				0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		27	131	0	0	0	1	0	27	131					T	121033012	C	T	121033012	2	4	47	1	0	0	0	0	0	0	0	1	15799	639	23	1		1	TECTA	11	121033012	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3697147	121033012	13973504	196	5779											
ROBO3	64221	broad.mit.edu	37	chr11	124740169	124740169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcgtctacgctggcGcaaggaggatggggaactgc	14	13	1	0	rs199762736		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:124740169G>A	ENST00000397801.1	+	5	1067	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R270H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	292	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		CTACGCTGGCGCAAGGAGGAT	0.577																																						ENST00000397801.1																			0				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						c.(874-876)cGc>cAc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							51	52	51					11																	124740169		1960	4142	6102	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740169G>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.875G>A	11.37:g.124740169G>A	ENSP00000380903:p.Arg292His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R270H	p.R292H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1067	+	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)	292			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000397801.1	37	c.875G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192650	0.78902	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.30182	1.54;1.54	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37304	N	0.002149	T	0.48390	0.1497	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44498	-0.9324	10	0.51188	T	0.08	.	18.0733	0.89419	0.0:0.0:1.0:0.0	.	292	Q96MS0	ROBO3_HUMAN	H	292;270	ENSP00000380903:R292H;ENSP00000441797:R270H	ENSP00000380903:R292H	R	+	2	0	ROBO3	124245379	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.676000	0.46883	2.447000	0.82792	0.462000	0.41574	CGC		0.577	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		35	94	0	0	0	1	0	35	94					A	124740169	G	A	124740169	3	1	47	1	0	0	0	0	1	0	0	0	13565	1087	38	1	893	1	ROBO3	11	124740169	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3707157	124740169	10266347	197	5780											
HEPACAM	220296	broad.mit.edu	37	chr11	124793759	124793759	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcgggggacaggagcattCtcgagtcattgaggaggggc	19	7	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:124793759C>A	ENST00000298251.4	-	3	980	c.575G>T	c.(574-576)aGa>aTa	p.R192I		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CAGGAGCATTCTCGAGTCATT	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(574-576)aGa>aTa		hepatic and glial cell adhesion molecule							130	92	105					11																	124793759		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793759C>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.575G>T	11.37:g.124793759C>A	ENSP00000298251:p.Arg192Ile						p.R192I	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	980	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	192			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.575G>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979103	0.92982	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.80824	-1.42	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098628	0.64402	D	0.000003	D	0.91466	0.7306	M	0.88310	2.945	0.49687	D	0.999818	D;D	0.71674	0.998;0.997	D;D	0.69479	0.964;0.947	D	0.92358	0.5895	10	0.72032	D	0.01	-9.4137	19.7543	0.96284	0.0:1.0:0.0:0.0	.	192;192	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	I	192	ENSP00000298251:R192I	ENSP00000298251:R192I	R	-	2	0	HEPACAM	124298969	0.879000	0.30193	0.062000	0.19696	0.907000	0.53573	7.818000	0.86416	2.676000	0.91093	0.655000	0.94253	AGA		0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		13	100	1	0	0.00010058	1	0.000104212	13	100					A	124793759	C	A	124793759	3	1	47	1	0	0	0	0	1	0	0	0	7082	913	32	3	695	3	HEPACAM	11	124793759	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	53590	124793759	10212757	198	5781											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842373	128842373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaattatttaatcctataTtggttgctgcttgtacctgc	9	7	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:128842373T>C	ENST00000310343.9	-	21	3985	c.3986A>G	c.(3985-3987)aAt>aGt	p.N1329S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N980S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N980S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1329					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAATCCTATATTGGTTGCTGC	0.478																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(3985-3987)aAt>aGt		Rho GTPase activating protein 32							119	121	121					11																	128842373		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128842373T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3986A>G	11.37:g.128842373T>C	ENSP00000310561:p.Asn1329Ser					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N980S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N980S	p.N1329S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			21	3985	-			1329					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3986A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	0.115	-1.132890	0.01756	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.07114	3.22;3.22;3.22	5.65	-0.831	0.10789	.	1.086930	0.06798	N	0.788252	T	0.02119	0.0066	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.06365	T	0.9	.	5.8787	0.18844	0.0:0.343:0.2835:0.3735	.	1329	A7KAX9	RHG32_HUMAN	S	1329;980;980	ENSP00000310561:N1329S;ENSP00000376425:N980S;ENSP00000432862:N980S	ENSP00000310561:N1329S	N	-	2	0	ARHGAP32	128347583	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.905000	0.04075	-0.439000	0.07222	-0.899000	0.02877	AAT		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		31	419	0	0	0	1	0	31	419					C	128842373	T	C	128842373	3	2	47	1	0	0	0	0	1	0	0	0	881	1493	52	4	2285	4	ARHGAP32	11	128842373	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	4048614	128842373	6164143	199	5782											
NCAPD3	23310	broad.mit.edu	37	chr11	134038048	134038048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtctgagagtaactcaCtggcgtccaggtccaggggt	14	10	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:134038048C>A	ENST00000534548.2	-	27	3480	c.3416G>T	c.(3415-3417)aGt>aTt	p.S1139I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1139					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAGTAACTCACTGGCGTCCAG	0.493																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3415-3417)aGt>aTt		non-SMC condensin II complex, subunit D3							106	95	99					11																	134038048		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038048C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3416G>T	11.37:g.134038048C>A	ENSP00000433681:p.Ser1139Ile						p.S1139I	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	3480	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1139					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3416G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	c	19.26	3.792906	0.70452	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T	0.44083	0.93;0.93	5.52	3.22	0.36961	Armadillo-type fold (1);	0.345074	0.41500	D	0.000871	T	0.50497	0.1619	M	0.61703	1.905	0.80722	D	1	D;P	0.56746	0.977;0.915	P;P	0.54965	0.765;0.765	T	0.53056	-0.8492	10	0.62326	D	0.03	-8.422	9.3667	0.38228	0.0:0.6918:0.0:0.3082	.	1139;199	P42695;Q96FA6	CNDD3_HUMAN;.	I	1139;44;175	ENSP00000433681:S1139I;ENSP00000435173:S175I	ENSP00000432532:S44I	S	-	2	0	NCAPD3	133543258	0.739000	0.28196	0.994000	0.49952	0.814000	0.46013	1.034000	0.30204	1.286000	0.44565	0.586000	0.80456	AGT		0.493	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		11	176	1	0	5.50884e-06	1	5.75573e-06	11	176					A	134038048	C	A	134038048	3	1	47	1	0	0	0	0	1	0	0	0	10248	565	20	3	1116	3	NCAPD3	11	134038048	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	5195675	134038048	968468	200	5783											
IAPP	3375	broad.mit.edu	37	chr12	21531268	21531268	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaacaactttggtgccattCtctcatctaccaacgtggga	8	12	3	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:21531268C>G	ENST00000240652.3	+	3	314	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V	IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L60V|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	60					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TGGTGCCATTCTCTCATCTAC	0.453																																						ENST00000240652.3																			0				lung(3)	3						c.(178-180)Ctc>Gtc		islet amyloid polypeptide	Perindopril(DB00790)						138	129	132					12																	21531268		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531268C>G		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"Endogenous ligands"	5329	protein-coding gene	gene with protein product	"amylin"	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.178C>G	12.37:g.21531268C>G	ENSP00000240652:p.Leu60Val					SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L60V|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR	p.L60V	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN			3	314	+			60					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.178C>G	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.984|8.984	0.976051|0.976051	0.18736|0.18736	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000535428|ENST00000539393;ENST00000240652;ENST00000537593	.|T;T;T	.|0.22743	.|1.94;1.94;1.94	4.45|4.45	1.29|1.29	0.21616|0.21616	.|Calcitonin peptide-like (1);	.|0.603260	.|0.17097	.|N	.|0.187135	T|T	0.14270|0.14270	0.0345|0.0345	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36354	.|0.549	.|B	.|0.31946	.|0.138	T|T	0.07177|0.07177	-1.0786|-1.0786	4|9	.|0.72032	.|D	.|0.01	-0.285|-0.285	5.0931|5.0931	0.14720|0.14720	0.0:0.4101:0.0:0.5899|0.0:0.4101:0.0:0.5899	.|.	.|60	.|P10997	.|IAPP_HUMAN	L|V	55|60	.|ENSP00000437357:L60V;ENSP00000240652:L60V;ENSP00000445980:L60V	.|ENSP00000240652:L60V	F|L	+|+	3|1	2|0	IAPP|IAPP	21422535|21422535	0.658000|0.658000	0.27402|0.27402	0.002000|0.002000	0.10522|0.10522	0.069000|0.069000	0.16628|0.16628	1.198000|1.198000	0.32223|0.32223	0.476000|0.476000	0.27440|0.27440	0.650000|0.650000	0.86243|0.86243	TTC|CTC		0.453	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		238	258	0	0	0	1	0	238	258					G	21531268	C	G	21531268	3	3	47	1	0	0	0	0	1	0	0	0	7502	913	32	5	184	5	IAPP	12	21531268	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		21531268	112320627	201	5784											
CCNT1	904	broad.mit.edu	37	chr12	49087818	49087818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcttctgcatgcttcgcGcggtattctttcagtgacac	8	11	4	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:49087818G>A	ENST00000261900.3	-	9	1401	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	393					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATGCTTCGCGCGGTATTCTT	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1177-1179)cgC>cgT		cyclin T1							230	236	234					12																	49087818		2203	4300	6503	SO:0001819	synonymous_variant	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087818G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1179C>T	12.37:g.49087818G>A							p.R393R	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1401	-			393					A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	c.1179C>T	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		25	937	0	0	0	1	0	25	937					A	49087818	G	A	49087818	2	1	47	1	0	0	0	0	0	0	0	1	2943	1074	38	1		1	CCNT1	12	49087818	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	27556550	49087818	84764077	202	5785											
SMARCC2	6601	broad.mit.edu	37	chr12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G													gtccaggggggggaacccctINSggtgggactgccccaggctg							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			9	319						9	319	---	---	---	---	G	56559128	-	G	56559127	7	5	47	1	0	1	1	0	0	0	0	0	14826	1567	55	0	542	0	SMARCC2	12	56559127	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	7471309	56559127	77292768	203	5786											
LRP1	4035	broad.mit.edu	37	chr12	57588845	57588845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggctgtgtgacggcagcGatgactgtggggatggctca	18	7	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:57588845G>A	ENST00000243077.3	+	51	8735	c.8269G>A	c.(8269-8271)Gat>Aat	p.D2757N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2757	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGGCAGCGATGACTGTGG	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8269-8271)Gat>Aat		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95	105	102					12																	57588845		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588845G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8269G>A	12.37:g.57588845G>A	ENSP00000243077:p.Asp2757Asn						p.D2757N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	51	8735	+			2757			LDL-receptor class A 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8269G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254469	0.59212	.	.	ENSG00000123384	ENST00000243077	D	0.95377	-3.69	4.93	3.11	0.35812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.94135	0.8119	L	0.31804	0.96	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89897	0.4041	10	0.07175	T	0.84	.	9.8353	0.40966	0.1688:0.0:0.8312:0.0	.	2757	Q07954	LRP1_HUMAN	N	2757	ENSP00000243077:D2757N	ENSP00000243077:D2757N	D	+	1	0	LRP1	55875112	1.000000	0.71417	0.893000	0.35052	0.983000	0.72400	6.568000	0.73987	0.668000	0.31126	0.455000	0.32223	GAT		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	626	0	0	0	1	0	19	626					A	57588845	G	A	57588845	3	1	47	1	0	0	0	0	1	0	0	0	8989	1058	37	1	8471	1	LRP1	12	57588845	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1029718	57588845	76263050	204	5787											
LRP1	4035	broad.mit.edu	37	chr12	57597244	57597244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatccccctgcgctggCgctgtgacgcagacgccgac	12	17	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:57597244C>T	ENST00000243077.3	+	70	11357	c.10891C>T	c.(10891-10893)Cgc>Tgc	p.R3631C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3631	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCGCTGGCGCTGTGACGC	0.687																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10891-10893)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						40	36	37					12																	57597244		2197	4296	6493	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57597244C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10891C>T	12.37:g.57597244C>T	ENSP00000243077:p.Arg3631Cys						p.R3631C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	70	11357	+			3631			LDL-receptor class A 28.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10891C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194317	0.38806	.	.	ENSG00000123384	ENST00000243077	D	0.95980	-3.87	4.97	4.09	0.47781	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.076795	0.49305	D	0.000144	D	0.98061	0.9361	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.98038	1.0380	10	0.39692	T	0.17	.	12.3944	0.55376	0.0:0.9179:0.0:0.0821	.	3631	Q07954	LRP1_HUMAN	C	3631	ENSP00000243077:R3631C	ENSP00000243077:R3631C	R	+	1	0	LRP1	55883511	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	3.670000	0.54569	1.346000	0.45694	-0.142000	0.14014	CGC		0.687	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	59	0	0	0	1	0	4	59					T	57597244	C	T	57597244	3	4	47	1	0	0	0	0	1	0	0	0	8989	768	27	1	11169	1	LRP1	12	57597244	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	8399	57597244	76254651	205	5788											
METAP2	84101	broad.mit.edu	37	chr12	95907493	95907493	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacccttgccttctgccGcagatggctggatcgcttgg	13	12	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:95907493G>A	ENST00000258499.3	-	0	4022				METAP2_ENST00000550777.1_Missense_Mutation_p.R381H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000323666.5_Missense_Mutation_p.R417H|METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCCTTCTGCCGCAGATGGCTG	0.408																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1249-1251)cGc>cAc		methionyl aminopeptidase 2	L-Methionine(DB00134)						131	125	127					12																	95907493		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907493G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907493G>A						METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H|METAP2_ENST00000550777.1_Missense_Mutation_p.R381H	p.R417H	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			11	1479	+			417					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1250G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357141	0.82243	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	4.94	0.65067	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.87827	2.91	0.80722	D	1	P;D;P;P;P	0.62365	0.919;0.991;0.942;0.924;0.939	B;B;B;B;B	0.37888	0.177;0.248;0.212;0.169;0.26	T	0.72450	-0.4290	9	0.66056	D	0.02	-7.6336	14.9658	0.71193	0.0685:0.0:0.9315:0.0	.	394;381;394;416;417	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	H	417;394;394;381;416	.	ENSP00000261220:R394H	R	+	2	0	METAP2	94431624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	1.474000	0.48178	-0.140000	0.14226	CGC		0.408	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		20	484	0	0	0	1	0	20	484					A	95907493	G	A	95907493	1	1	47	0	1	0	0	0	0	0	0	0	9528	1087	38	1		1	METAP2	12	95907493	IGR	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	38310249	95907493	37944402	206	5789											
CHST11	50515	broad.mit.edu	37	chr12	105150785	105150785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaccaggtgacagacaCgtgccgagccaacagcgcca	14	14	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:105150785C>T	ENST00000303694.5	+	3	702	c.263C>T	c.(262-264)aCg>aTg	p.T88M	CHST11_ENST00000549260.1_Missense_Mutation_p.T83M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	88					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTGACAGACACGTGCCGAGCC	0.587																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(262-264)aCg>aTg		carbohydrate (chondroitin 4) sulfotransferase 11							49	41	44					12																	105150785		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150785C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.263C>T	12.37:g.105150785C>T	ENSP00000305725:p.Thr88Met					CHST11_ENST00000549260.1_Missense_Mutation_p.T83M	p.T88M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	702	+			88					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.263C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.095945	0.36952	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.68479	-0.33;-0.33;-0.1	5.51	5.51	0.81932	.	0.212101	0.50627	D	0.000115	T	0.57755	0.2075	L	0.42245	1.32	0.80722	D	1	B;B	0.29188	0.236;0.152	B;B	0.27380	0.079;0.036	T	0.55792	-0.8085	10	0.35671	T	0.21	-20.3095	12.7259	0.57170	0.0:0.9252:0.0:0.0748	.	83;88	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	M	83;88;48	ENSP00000450004:T83M;ENSP00000305725:T88M;ENSP00000449095:T48M	ENSP00000305725:T88M	T	+	2	0	CHST11	103674915	1.000000	0.71417	0.992000	0.48379	0.865000	0.49528	4.955000	0.63638	2.600000	0.87896	0.655000	0.94253	ACG		0.587	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	196	0	0	0	1	0	6	196					T	105150785	C	T	105150785	3	4	47	1	0	0	0	0	1	0	0	0	3408	536	19	1	273	1	CHST11	12	105150785	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9243292	105150785	28701110	207	5790											
KCTD10	83892	broad.mit.edu	37	chr12	109893952	109893952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttctcagtggcatagaCgatggaggtacaacagactt	10	8	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:109893952C>T	ENST00000228495.6	-	6	975	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	232					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTGGCATAGACGATGGAGGTA	0.468																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(694-696)Gtc>Atc		potassium channel tetramerization domain containing 10							131	115	120					12																	109893952		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109893952C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.694G>A	12.37:g.109893952C>T	ENSP00000228495:p.Val232Ile					KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I	p.V232I	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			6	975	-			232					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.694G>A	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043721	0.93685	.	.	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355	T;T	0.55930	0.6;0.49	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.986;0.897;0.978	T	0.80077	-0.1533	10	0.72032	D	0.01	-31.417	17.0435	0.86496	0.0:1.0:0.0:0.0	.	206;209;232	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	I	232;51;74;51;206;51;51;51;51	ENSP00000228495:V232I;ENSP00000441672:V206I	ENSP00000228495:V232I	V	-	1	0	KCTD10	108378335	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	7.651000	0.83577	2.581000	0.87130	0.555000	0.69702	GTC		0.468	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		5	239	0	0	0	1	0	5	239					T	109893952	C	T	109893952	3	4	47	1	0	0	0	0	1	0	0	0	8127	536	19	1	255	1	KCTD10	12	109893952	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	4743167	109893952	23957943	208	5791											
P2RX7	5027	broad.mit.edu	37	chr12	121600237	121600237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctataggaattcagacCggaaggtgtgtagtgtatga	12	7	1	2	rs200860979		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:121600237C>T	ENST00000546057.1	+	5	590	c.447C>T	c.(445-447)acC>acT	p.T149T	P2RX7_ENST00000377162.2_Silent_p.T149T|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000535250.1_Silent_p.T59T	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	149					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAATTCAGACCGGAAGGTGTG	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18786	0.0		0.0	False		,,,				2504	0.0					ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(445-447)acC>acT		purinergic receptor P2X, ligand-gated ion channel, 7							86	80	82					12																	121600237		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121600237C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.447C>T	12.37:g.121600237C>T						P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000377162.2_Silent_p.T149T|P2RX7_ENST00000535250.1_Silent_p.T59T|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR	p.T149T	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN			5	590	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		149					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.447C>T	CCDS9213.1																																																																																				0.552	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		9	179	0	0	0	1	0	9	179					T	121600237	C	T	121600237	2	4	47	1	0	0	0	0	0	0	0	1	11387	639	23	1		1	P2RX7	12	121600237	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	11706285	121600237	12251658	209	5792											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		7	964	0	0	0	1	0	7	964					A	123780522	G	A	123780522	3	1	47	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2180285	123780522	10071373	210	5793											
DHX37	57647	broad.mit.edu	37	chr12	125435335	125435335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtggatgaagacagggtCgtcgaggagaggggtctgca	21	5	1	3	rs140554912		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:125435335C>T	ENST00000308736.2	-	22	2982	c.2884G>A	c.(2884-2886)Gac>Aac	p.D962N	DHX37_ENST00000544745.1_Missense_Mutation_p.D749N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	962							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGACAGGGTCGTCGAGGAGA	0.532																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2884-2886)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ASN/ASP	0,4406		0,0,2203	89	103	98		2884	5.3	1	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	962/1158	125435335	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435335C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2884G>A	12.37:g.125435335C>T	ENSP00000311135:p.Asp962Asn					DHX37_ENST00000544745.1_Missense_Mutation_p.D749N	p.D962N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	22	2982	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		962					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2884G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783376	0.70222	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03181	4.1;4.02	5.26	5.26	0.73747	Domain of unknown function DUF1605 (1);	0.137763	0.64402	D	0.000005	T	0.04363	0.0120	L	0.41027	1.25	0.80722	D	1	B;P	0.40602	0.178;0.723	B;B	0.30401	0.029;0.115	T	0.51545	-0.8692	10	0.40728	T	0.16	-20.2821	18.8723	0.92320	0.0:1.0:0.0:0.0	.	749;962	F5H3Y4;Q8IY37	.;DHX37_HUMAN	N	962;749	ENSP00000311135:D962N;ENSP00000439009:D749N	ENSP00000311135:D962N	D	-	1	0	DHX37	124001288	1.000000	0.71417	0.967000	0.41034	0.761000	0.43186	7.448000	0.80631	2.467000	0.83353	0.561000	0.74099	GAC		0.532	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		47	213	0	0	0	1	0	47	213					T	125435335	C	T	125435335	3	4	47	1	0	0	0	0	1	0	0	0	4526	884	31	1	613	1	DHX37	12	125435335	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1654813	125435335	8416560	211	5794											
EP400	57634	broad.mit.edu	37	chr12	132516562	132516562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctctccactcacagccGtaccacaggtataaaccttg	5	15	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:132516562G>A	ENST00000333577.4	+	31	6036	c.5927G>A	c.(5926-5928)cGt>cAt	p.R1976H	EP400_ENST00000389562.2_Missense_Mutation_p.R1939H|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000330386.6_Missense_Mutation_p.R1859H|EP400_ENST00000332482.4_Missense_Mutation_p.R1903H|EP400_ENST00000389561.2_Missense_Mutation_p.R1940H			Q96L91	EP400_HUMAN	E1A binding protein p400	1976	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACTCACAGCCGTACCACAGGT	0.463																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5926-5928)cGt>cAt		E1A binding protein p400							149	149	149					12																	132516562		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132516562G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5927G>A	12.37:g.132516562G>A	ENSP00000333602:p.Arg1976His					EP400_ENST00000330386.6_Missense_Mutation_p.R1859H|EP400_ENST00000389562.2_Missense_Mutation_p.R1939H|EP400_ENST00000332482.4_Missense_Mutation_p.R1903H|EP400_ENST00000389561.2_Missense_Mutation_p.R1940H	p.R1976H			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6036	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1976			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5927G>A		.	.	.	.	.	.	.	.	.	.	G	14.64	2.594519	0.46214	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.75260	-0.9;-0.9;-0.9;-0.9;-0.92	5.9	5.9	0.94986	.	0.098049	0.64402	D	0.000001	T	0.70298	0.3208	N	0.03608	-0.345	0.42479	D	0.992855	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.65010	0.931;0.878;0.931	T	0.77736	-0.2476	10	0.56958	D	0.05	.	15.7199	0.77700	0.0:0.1359:0.8641:0.0	.	1940;1859;1939	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	H	1976;1940;1939;1903;1859;1940	ENSP00000333602:R1976H;ENSP00000374212:R1940H;ENSP00000374213:R1939H;ENSP00000331737:R1903H;ENSP00000330620:R1859H	ENSP00000330620:R1859H	R	+	2	0	EP400	131082515	1.000000	0.71417	0.968000	0.41197	0.560000	0.35617	8.061000	0.89467	2.793000	0.96121	0.563000	0.77884	CGT		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	874	0	0	0	1	0	7	874					A	132516562	G	A	132516562	3	1	47	1	0	0	0	0	1	0	0	0	5167	1145	40	1	5930	1	EP400	12	132516562	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7081227	132516562	1335333	212	5795											
SACS	26278	broad.mit.edu	37	chr13	23912863	23912864	+	Frame_Shift_Ins	INS	-	-	T													aatgctttggaagagcaggaINStttttttttaattattactg							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:23912863_23912864insT	ENST00000382292.3	-	9	5424_5425	c.5151_5152insA	c.(5149-5154)aaatccfs	p.S1718fs	SACS_ENST00000382298.3_Frame_Shift_Ins_p.S1718fs|SACS_ENST00000402364.1_Frame_Shift_Ins_p.S968fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1718					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAGAGCAGGATTTTTTTTTAA	0.361																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5149-5154)aacctgfs		spastic ataxia of Charlevoix-Saguenay (sacsin)				8,4252		0,8,2122						-11.1	0			42	7,8237		0,7,4115	no	frameshift	SACS	NM_014363.4		0,15,6237	A1A1,A1R,RR		0.0849,0.1878,0.12				15,12489				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912863_23912864insT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5152dupA	13.37:g.23912872_23912872dupT	ENSP00000371729:p.Ser1718fs					SACS_ENST00000402364.1_Frame_Shift_Ins_p.NL967fs|SACS_ENST00000382292.3_Frame_Shift_Ins_p.NL1717fs	p.NL1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5739_5740	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1717					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Ins	INS	ENST00000382292.3	37	c.5151_5152insA	CCDS9300.2																																																																																				0.361	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	250						7	250	---	---	---	---	T	23912864	-	T	23912863	7	5	47	1	0	1	1	0	0	0	0	0	13854	333	12	0	8591	0	SACS	13	23912863	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08		23912863	91257015	213	5796											
SPATA13	221178	broad.mit.edu	37	chr13	24823914	24823914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaaggcgccccatttcCgtgataggtggggtcagctt	15	10	1	2	rs139541678		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:24823914C>T	ENST00000382095.4	+	2	485	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Silent_p.S651S|SPATA13-AS1_ENST00000430733.1_RNA|SPATA13_ENST00000424834.2_Silent_p.S651S	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	26					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCCATTTCCGTGATAGGTG	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(1951-1953)tcC>tcT		spermatogenesis associated 13		C	,	1,4403		0,1,2201	67	61	63		1953,78	-9.9	0.8	13	dbSNP_134	63	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	651/1278,26/653	24823914	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24823914C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.78C>T	13.37:g.24823914C>T						SPATA13_ENST00000382108.3_Silent_p.S651S|SPATA13_ENST00000382095.4_Silent_p.S26S	p.S651S			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	5	2426	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	26			C-terminal tail.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.1953C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398839	0.25291	2.27E-4	0.0	ENSG00000182957	ENST00000424834	.	.	.	5.65	-9.95	0.00446	.	.	.	.	.	T	0.43389	0.1245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51655	-0.8678	4	.	.	.	.	6.4251	0.21766	0.0797:0.1283:0.0799:0.7122	.	.	.	.	C	689	.	.	R	+	1	0	SPATA13	23721914	0.000000	0.05858	0.849000	0.33467	0.964000	0.63967	-2.582000	0.00905	-1.440000	0.01960	-0.379000	0.06801	CGT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		5	292	0	0	0	1	0	5	292					T	24823914	C	T	24823914	2	4	47	1	0	0	0	0	0	0	0	1	15052	639	23	1		1	SPATA13	13	24823914	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	911051	24823914	90345964	214	5797											
GPR12	2835	broad.mit.edu	37	chr13	27333439	27333439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagttccagcccatgaCgggcagcagccccaggcaga	14	14	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:27333439C>T	ENST00000381436.2	-	1	988	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	GPR12_ENST00000405846.3_Missense_Mutation_p.V176I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	176					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGCCCATGACGGGCAGCAGC	0.597																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(526-528)Gtc>Atc		G protein-coupled receptor 12							51	47	48					13																	27333439		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr13:27333439C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.526G>A	13.37:g.27333439C>T	ENSP00000370844:p.Val176Ile					GPR12_ENST00000381436.2_Missense_Mutation_p.V176I	p.V176I	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	747	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	176					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.526G>A	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181320	0.06380	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36520	1.25;1.25	5.36	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.236354	0.42964	N	0.000627	T	0.16342	0.0393	N	0.11892	0.195	0.21841	N	0.999511	B	0.19073	0.033	B	0.19946	0.027	T	0.32134	-0.9918	10	0.07813	T	0.8	.	9.6996	0.40178	0.0:0.4994:0.0:0.5006	.	176	P47775	GPR12_HUMAN	I	176	ENSP00000384932:V176I;ENSP00000370844:V176I	ENSP00000370844:V176I	V	-	1	0	GPR12	26231439	0.001000	0.12720	0.292000	0.24919	0.946000	0.59487	0.002000	0.13061	-0.184000	0.10567	-0.224000	0.12420	GTC		0.597	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			50	82	0	0	0	1	0	50	82					T	27333439	C	T	27333439	3	4	47	1	0	0	0	0	1	0	0	0	6664	536	19	1	482	1	GPR12	13	27333439	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	2509525	27333439	87836439	215	5798											
CLEC14A	161198	broad.mit.edu	37	chr14	38724315	38724315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcagtggccggcgggcGcctggtgggcaccccggtcc	19	14	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:38724315G>A	ENST00000342213.2	-	1	1259	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	305						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)		GCCGGCGGGCGCCTGGTGGGC	0.652																																						ENST00000342213.2																			0				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						c.(913-915)Cgc>Tgc		C-type lectin domain family 14, member A							44	48	47					14																	38724315		2198	4289	6487	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724315G>A		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.913C>T	14.37:g.38724315G>A	ENSP00000353013:p.Arg305Cys						p.R305C	NM_175060.2	NP_778230.1	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	1259	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		305					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.913C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169579	0.21621	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74421	-0.84	3.81	-1.36	0.09085	.	1.546410	0.04567	N	0.392666	T	0.65291	0.2677	N	0.14661	0.345	0.09310	N	1	P	0.47350	0.894	P	0.50825	0.651	T	0.56745	-0.7928	10	0.42905	T	0.14	-1.2236	6.1391	0.20249	0.1011:0.0:0.283:0.6159	.	305	Q86T13	CLC14_HUMAN	C	305;70	ENSP00000353013:R305C	ENSP00000353013:R305C	R	-	1	0	CLEC14A	37794066	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.140000	0.16056	-0.246000	0.09611	-1.608000	0.00805	CGC		0.652	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		239	232	0	0	0	1	0	239	232					A	38724315	G	A	38724315	3	1	47	1	0	0	0	0	1	0	0	0	3508	1087	38	1	563	1	CLEC14A	14	38724315	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		38724315	68625225	216	5799											
SOCS4	122809	broad.mit.edu	37	chr14	55510690	55510690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagggtacctttttacttCgagactcagcacaggaagac	10	10	1	3	rs372537919		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:55510690C>T	ENST00000395472.2	+	2	1263	c.931C>T	c.(931-933)Cga>Tga	p.R311*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	311	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.R311*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CTTTTTACTTCGAGACTCAGC	0.418																																						ENST00000395472.2																			1	Substitution - Nonsense(1)	p.R311*(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(931-933)Cga>Tga		suppressor of cytokine signaling 4		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	121	122	122		931,931	4.9	1	14		122	0,8600		0,0,4300	no	stop-gained,stop-gained	SOCS4	NM_080867.2,NM_199421.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	311/441,311/441	55510690	1,13005	2203	4300	6503	SO:0001587	stop_gained	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510690C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.931C>T	14.37:g.55510690C>T	ENSP00000378855:p.Arg311*					SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311*	p.R311*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1263	+			311			SH2.			Nonsense_Mutation	SNP	ENST00000395472.2	37	c.931C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115190	0.97296	2.27E-4	0.0	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.77	4.87	0.63330	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2067	16.1994	0.82060	0.1342:0.8658:0.0:0.0	.	.	.	.	X	311	.	ENSP00000341327:R311X	R	+	1	2	SOCS4	54580443	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.958000	0.56737	1.406000	0.46857	-0.188000	0.12872	CGA		0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			8	537	0	0	0	1	0	8	537					T	55510690	C	T	55510690	4	4	47	1	0	0	0	0	0	1	0	0	14966	876	31	1	933	1	SOCS4	14	55510690	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	16786375	55510690	51838850	217	5800											
KCNH5	27133	broad.mit.edu	37	chr14	63246448	63246448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacccagagaacatacccGtttcctcagattgcaagtaa	7	12	1	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:63246448G>A	ENST00000322893.7	-	10	2285	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KCNH5_ENST00000394968.1_Missense_Mutation_p.R615W|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	673					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R673W(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACATACCCGTTTCCTCAGA	0.398																																						ENST00000322893.7																			2	Substitution - Missense(2)	p.R673W(2)	kidney(1)|central_nervous_system(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2017-2019)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 5							111	113	112					14																	63246448		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246448G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2017C>T	14.37:g.63246448G>A	ENSP00000321427:p.Arg673Trp					KCNH5_ENST00000394968.1_Missense_Mutation_p.R615W|KCNH5_ENST00000420622.2_Intron	p.R673W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2285	-			673					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2017C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377770	0.61735	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	T;D	0.99032	2.22;-5.35	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99364	1.0918	10	0.72032	D	0.01	.	17.0597	0.86543	0.0:0.0:0.8185:0.1814	.	615;673	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	W	673;615	ENSP00000321427:R673W;ENSP00000378419:R615W	ENSP00000321427:R673W	R	-	1	2	KCNH5	62316201	0.956000	0.32656	1.000000	0.80357	0.980000	0.70556	0.668000	0.25127	2.669000	0.90835	0.591000	0.81541	CGG		0.398	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		8	622	0	0	0	1	0	8	622					A	63246448	G	A	63246448	3	1	47	1	0	0	0	0	1	0	0	0	8065	1144	40	1	991	1	KCNH5	14	63246448	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7735758	63246448	44103092	218	5801											
KCNH5	27133	broad.mit.edu	37	chr14	63447722	63447722	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctctccaccgggccccacGaaagtcgtgtgaaaatttaa	8	13	1	1	rs376391048		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:63447722G>A	ENST00000322893.7	-	6	1078	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	270					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGCCCCACGAAAGTCGTGT	0.433																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(808-810)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 5							61	63	62					14																	63447722		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447722G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.810C>T	14.37:g.63447722G>A						KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F	p.F270F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	1078	-			270					C9JP98	Silent	SNP	ENST00000322893.7	37	c.810C>T	CCDS9756.1																																																																																				0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		9	287	0	0	0	1	0	9	287					A	63447722	G	A	63447722	2	1	47	1	0	0	0	0	0	0	0	1	8065	1049	37	1		1	KCNH5	14	63447722	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	201274	63447722	43901818	219	5802											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		10	635						10	635	---	---	---	---	-	95921890	CTC	-	95921888	7	5	47	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-FB-AAPP-01A-12D-A40W-08	32474166	95921888	11427652	220	5803											
ATP10A	57194	broad.mit.edu	37	chr15	25924815	25924815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcagaggacatgggggcCggtgcgctcagcccctccag	17	14	1	1	rs543352421		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:25924815C>T	ENST00000356865.6	-	21	4284	c.4173G>A	c.(4171-4173)ccG>ccA	p.P1391P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1391					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACATGGGGGCCGGTGCGCTCA	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14453	0.0		0.0	False		,,,				2504	0.0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4171-4173)ccG>ccA		ATPase, class V, type 10A							38	37	37					15																	25924815		2203	4299	6502	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924815C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4173G>A	15.37:g.25924815C>T							p.P1391P	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4284	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1391					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4173G>A	CCDS32178.1																																																																																				0.687	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		17	211	0	0	0	1	0	17	211					T	25924815	C	T	25924815	2	4	47	1	0	0	0	0	0	0	0	1	1117	639	23	1		1	ATP10A	15	25924815	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		25924815	76606577	221	5804											
MGA	23269	broad.mit.edu	37	chr15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgccaatgagcggcggcGgcgtggtgaaatgagggatc	17	9	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																						ENST00000219905.7																			4	Substitution - Missense(4)	p.R2484Q(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7303-7305)cGg>cAg		MGA, MAX dimerization protein							109	111	110					15																	42052633		1900	4109	6009	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42052633G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln					MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q	p.R2435Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	20	7485	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2396			Helix-loop-helix motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7304G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		18	318	0	0	0	1	0	18	318					A	42052633	G	A	42052633	3	1	47	1	0	0	0	0	1	0	0	0	9581	1116	39	1	7378	1	MGA	15	42052633	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	16127818	42052633	60478759	222	5805											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42140039	42140039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcagtgcagcggaggcGgcagcgcaggccccactgat	16	14	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42140039G>A	ENST00000452633.1	+	21	2679	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R1007Q|JMJD7-PLA2G4B_ENST00000342159.4_3'UTR|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R1007Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R776Q			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	776	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGCGGAGGCGGCAGCGCAGG	0.627																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(3019-3021)cGg>cAg									34	32	33					15																	42140039		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42140039G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2327G>A	15.37:g.42140039G>A	ENSP00000396045:p.Arg776Gln					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000342159.4_3'UTR	p.R1007Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			25	3029	+			776					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.3020G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.963895	0.34659	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.12361	2.69;2.69;2.69	4.23	-0.342	0.12635	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.396349	0.21415	N	0.074907	T	0.10723	0.0262	L	0.46157	1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	10	0.33141	T	0.24	-9.285	8.1858	0.31337	0.4372:0.0:0.5628:0.0	.	776;1007	P0C869;P0C869-6	PA24B_HUMAN;.	Q	1007;776;776	ENSP00000371886:R1007Q;ENSP00000416610:R776Q;ENSP00000396045:R776Q	ENSP00000371886:R1007Q	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39927331	0.000000	0.05858	0.002000	0.10522	0.445000	0.32107	-1.039000	0.03550	-0.284000	0.09102	-0.459000	0.05422	CGG		0.627	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		14	95	0	0	0	1	0	14	95					A	42140039	G	A	42140039	3	1	47	1	0	0	0	0	1	0	0	0	7985	1116	39	1	3118	1	JMJD7-PLA2G4B	15	42140039	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	87406	42140039	60391353	223	5806											
SPTBN5	51332	broad.mit.edu	37	chr15	42172014	42172014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctcagcagagctgcTgacctcagcccagaggccct	11	15	2	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42172014T>C	ENST00000320955.6	-	15	3087	c.2860A>G	c.(2860-2862)Agc>Ggc	p.S954G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	954					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAGAGCTGCTGACCTCAGCC	0.562																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(2860-2862)Agc>Ggc		spectrin, beta, non-erythrocytic 5							75	74	74					15																	42172014		2032	4183	6215	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42172014T>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2860A>G	15.37:g.42172014T>C	ENSP00000317790:p.Ser954Gly						p.S954G	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	15	3087	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	954						Missense_Mutation	SNP	ENST00000320955.6	37	c.2860A>G		.	.	.	.	.	.	.	.	.	.	.	11.28	1.590778	0.28357	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.91	3.8	0.43715	.	0.838822	0.10828	N	0.629625	T	0.37237	0.0996	L	0.41236	1.265	0.09310	N	0.999995	B	0.14438	0.01	B	0.15052	0.012	T	0.18209	-1.0344	10	0.44086	T	0.13	.	6.5202	0.22271	0.0:0.1072:0.0:0.8928	.	954	Q9NRC6	SPTN5_HUMAN	G	954	ENSP00000317790:S954G	ENSP00000317790:S954G	S	-	1	0	SPTBN5	39959306	0.325000	0.24660	0.842000	0.33263	0.990000	0.78478	0.367000	0.20382	1.834000	0.53371	0.402000	0.26972	AGC		0.562	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		39	156	0	0	0	1	0	39	156					C	42172014	T	C	42172014	3	2	47	1	0	0	0	0	1	0	0	0	15174	1580	55	4	8380	4	SPTBN5	15	42172014	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	31975	42172014	60359378	224	5807											
TGM5	9333	broad.mit.edu	37	chr15	43527833	43527833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcctggcccatgttgggCgggtcgagcagcttgaattt	13	9	0	1	rs188841718	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:43527833C>T	ENST00000220420.5	-	10	1555	c.1548G>A	c.(1546-1548)ccG>ccA	p.P516P	TGM5_ENST00000349114.4_Silent_p.P434P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCATGTTGGGCGGGTCGAGCA	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.0					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1546-1548)ccG>ccA		transglutaminase 5	L-Glutamine(DB00130)	C	,	1,4405	2.1+/-5.4	0,1,2202	106	88	94		1302,1548	-11.2	0	15		94	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	TGM5	NM_004245.3,NM_201631.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	434/639,516/721	43527833	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527833C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1548G>A	15.37:g.43527833C>T						TGM5_ENST00000349114.4_Silent_p.P434P	p.P516P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1555	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	516					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1548G>A	CCDS32212.1																																																																																				0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		22	104	0	0	0	1	0	22	104					T	43527833	C	T	43527833	2	4	47	1	0	0	0	0	0	0	0	1	15885	755	27	1		1	TGM5	15	43527833	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1355819	43527833	59003559	225	5808											
ALDH1A2	8854	broad.mit.edu	37	chr15	58247457	58247457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagtactcccgcaagcCaaattctcccctgaaacaca	5	15	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:58247457C>T	ENST00000249750.4	-	13	2262	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G403S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G461S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G470S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G478S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	499					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCGCAAGCCAAATTCTCCC	0.542																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1495-1497)Ggc>Agc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						122	122	122					15																	58247457		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58247457C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1495G>A	15.37:g.58247457C>T	ENSP00000249750:p.Gly499Ser					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G470S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G478S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G461S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G403S	p.G499S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	13	2262	-			499					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1495G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322360	0.41096	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.18960	2.18;2.18;2.18	5.95	5.03	0.67393	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.093230	0.64402	D	0.000001	T	0.26122	0.0637	L	0.44542	1.39	0.80722	D	1	P;B;P;P	0.42203	0.773;0.3;0.673;0.651	P;B;B;P	0.44422	0.449;0.209;0.351;0.449	T	0.02471	-1.1154	10	0.87932	D	0	.	15.596	0.76583	0.1387:0.8613:0.0:0.0	.	470;478;461;499	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	499;403;470;461;478	ENSP00000249750:G499S;ENSP00000309623:G461S;ENSP00000438296:G478S	ENSP00000249750:G499S	G	-	1	0	ALDH1A2	56034749	1.000000	0.71417	0.562000	0.28370	0.218000	0.24690	6.023000	0.70848	1.501000	0.48654	0.655000	0.94253	GGC		0.542	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			9	372	0	0	0	1	0	9	372					T	58247457	C	T	58247457	3	4	47	1	0	0	0	0	1	0	0	0	491	594	21	2	65	2	ALDH1A2	15	58247457	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	14719624	58247457	44283935	226	5809											
CCDC33	80125	broad.mit.edu	37	chr15	74622597	74622597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctctgcggagacaggCcagcatcctggaaggagaga	14	11	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:74622597C>A	ENST00000398814.3	+	12	1789	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	CCDC33_ENST00000268082.4_Missense_Mutation_p.A46D|CCDC33_ENST00000558821.1_Missense_Mutation_p.A46D|CCDC33_ENST00000321288.5_Missense_Mutation_p.A656D	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	656										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGAGACAGGCCAGCATCCTG	0.622																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1966-1968)gCc>gAc		coiled-coil domain containing 33							40	48	46					15																	74622597		2037	4179	6216	SO:0001583	missense	80125						protein binding	g.chr15:74622597C>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1358C>A	15.37:g.74622597C>A	ENSP00000381795:p.Ala453Asp					CCDC33_ENST00000398814.3_Missense_Mutation_p.A453D|CCDC33_ENST00000268082.4_Missense_Mutation_p.A46D|CCDC33_ENST00000558821.1_Missense_Mutation_p.A46D	p.A656D			Q8N5R6	CCD33_HUMAN			14	1967	+			656					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1967C>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902896	0.33628	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.35605	1.3;2.16;1.81;1.81	4.92	-0.976	0.10286	.	0.879833	0.09776	N	0.757340	T	0.42921	0.1224	M	0.63428	1.95	0.09310	N	1	P;P;D;D	0.54397	0.859;0.935;0.966;0.96	P;P;P;P	0.51266	0.491;0.664;0.543;0.572	T	0.40887	-0.9539	10	0.66056	D	0.02	.	8.9901	0.36019	0.0:0.4497:0.0:0.5503	.	46;46;656;453	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	D	656;453;46;46	ENSP00000325012:A656D;ENSP00000381795:A453D;ENSP00000325661:A46D;ENSP00000268082:A46D	ENSP00000268082:A46D	A	+	2	0	CCDC33	72409650	0.000000	0.05858	0.081000	0.20488	0.098000	0.18820	0.087000	0.14958	-0.073000	0.12842	0.643000	0.83706	GCC		0.622	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		11	74	1	0	1.58986e-06	1	1.67994e-06	11	74					A	74622597	C	A	74622597	3	1	47	1	0	0	0	0	1	0	0	0	2813	739	26	3	1477	3	CCDC33	15	74622597	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	16375140	74622597	27908795	227	5810											
LMAN1L	79748	broad.mit.edu	37	chr15	75113416	75113416	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgccctaatccccagGggaaaggctctttgacctgg	11	13	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:75113416G>A	ENST00000309664.5	+	9	1047	c.908G>A	c.(907-909)gGg>gAg	p.G303E	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.G291E	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	303						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATCCCCAGGGGAAAGGCTC	0.617																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e9-1		lectin, mannose-binding, 1 like							21	22	22					15																	75113416		2192	4283	6475	SO:0001630	splice_region_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113416G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.908-1G>A	15.37:g.75113416G>A						LMAN1L_ENST00000379709.3_Splice_Site_p.G291_splice|RP11-414J4.2_ENST00000564823.1_RNA	p.G303_splice	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			9	1047	+			303					Q6UWN2	Splice_Site	SNP	ENST00000309664.5	37	c.907_splice	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611114	0.28712	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.37235	1.23;1.21	5.43	3.56	0.40772	.	0.823590	0.10633	N	0.651926	T	0.19287	0.0463	N	0.08118	0	0.80722	D	1	P;P	0.46277	0.875;0.802	B;B	0.40825	0.341;0.184	T	0.01371	-1.1372	9	.	.	.	.	8.4292	0.32746	0.18:0.0:0.82:0.0	.	291;303	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	E	303;291	ENSP00000310431:G303E;ENSP00000369031:G291E	.	G	+	2	0	LMAN1L	72900469	0.935000	0.31712	0.967000	0.41034	0.346000	0.29079	1.242000	0.32755	0.785000	0.33685	-0.140000	0.14226	GGG		0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Missense_Mutation	13	11	0	0	0	1	0	13	11					A	75113416	G	A	75113416	5	1	47	1	0	0	0	0	0	0	1	0	8870	1246	43	2	942	2	LMAN1L	15	75113416	Splice_Site	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	490819	75113416	27417976	228	5811											
KIAA1199	57214	broad.mit.edu	37	chr15	81172080	81172080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtcattaaagaccacGacgagccgattgttttgcga	11	9	1	1	rs368282778		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:81172080G>A	ENST00000394685.3	+	5	684	c.265G>A	c.(265-267)Gac>Aac	p.D89N	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N			Q8WUJ3	CEMIP_HUMAN		89	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGACCACGACGAGCCGAT	0.517																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(265-267)Gac>Aac		KIAA1199		G	ASN/ASP	0,4406		0,0,2203	77	68	71		265	0	0	15		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1199	NM_018689.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	89/1362	81172080	1,13005	2203	4300	6503	SO:0001583	missense	57214							g.chr15:81172080G>A																												ENST00000394685.3:c.265G>A	15.37:g.81172080G>A	ENSP00000378177:p.Asp89Asn					KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N	p.D89N			Q8WUJ3	K1199_HUMAN			5	684	+			89			G8.		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.265G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756286	0.03019	0.0	1.16E-4	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.66638	-0.22;-0.22;-0.22	6.03	0.00685	0.14068	G8 domain (2);	2.233560	0.01663	N	0.025226	T	0.51329	0.1668	N	0.26130	0.795	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18999	-1.0319	10	0.20046	T	0.44	-0.1704	5.3568	0.16065	0.2287:0.1224:0.5557:0.0932	.	89	Q8WUJ3	K1199_HUMAN	N	89	ENSP00000220244:D89N;ENSP00000378177:D89N;ENSP00000348583:D89N	ENSP00000220244:D89N	D	+	1	0	KIAA1199	78959135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.446000	0.21694	0.085000	0.17107	-1.731000	0.00696	GAC		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			89	292	0	0	0	1	0	89	292					A	81172080	G	A	81172080	3	1	47	1	0	0	0	0	1	0	0	0	8243	1058	37	1	275	1	KIAA1199	15	81172080	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	6058664	81172080	21359312	229	5812											
IQGAP1	8826	broad.mit.edu	37	chr15	90997745	90997745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgatatccaagcttgcGtggaccatgtgaacctggtg	13	8	0	2	rs147346534	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:90997745G>A	ENST00000268182.5	+	14	1697	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	525					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAGCTTGCGTGGACCATGT	0.453													G|||	3	0.000599042	0.0	0.0	5008	,	,		19354	0.0		0.003	False		,,,				2504	0.0					ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1573-1575)Gtg>Atg		IQ motif containing GTPase activating protein 1		G	MET/VAL	0,4396		0,0,2198	223	192	202		1573	4.1	1	15	dbSNP_134	202	3,8593	3.0+/-9.4	0,3,4295	yes	missense	IQGAP1	NM_003870.3	21	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	525/1658	90997745	3,12989	2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90997745G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1573G>A	15.37:g.90997745G>A	ENSP00000268182:p.Val525Met					IQGAP1_ENST00000560738.1_Intron	p.V525M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		14	1697	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		525					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1573G>A	CCDS10362.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.70	3.196515	0.58126	0.0	3.49E-4	ENSG00000140575	ENST00000268182	T	0.12569	2.67	5.08	4.12	0.48240	.	0.238231	0.33534	N	0.004814	T	0.25158	0.0611	M	0.80183	2.485	0.80722	D	1	P	0.35363	0.497	B	0.40534	0.332	T	0.09422	-1.0675	10	0.87932	D	0	-16.7616	14.8568	0.70344	0.0:0.1434:0.8566:0.0	.	525	P46940	IQGA1_HUMAN	M	525	ENSP00000268182:V525M	ENSP00000268182:V525M	V	+	1	0	IQGAP1	88798749	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.326000	0.52037	2.655000	0.90218	0.650000	0.86243	GTG		0.453	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		6	382	0	0	0	1	0	6	382					A	90997745	G	A	90997745	3	1	47	1	0	0	0	0	1	0	0	0	7844	1145	40	1	1627	1	IQGAP1	15	90997745	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9825665	90997745	11533647	230	5813											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459385	92459385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcggctgcggcggcatcGtcatggcgctgggcgcgctg	18	12	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:92459385G>A	ENST00000318445.6	+	2	557	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V115I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	115					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CGGCGGCATCGTCATGGCGCT	0.706																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(343-345)Gtc>Atc		solute carrier organic anion transporter family, member 3A1							14	13	14					15																	92459385		2136	4177	6313	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459385G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.343G>A	15.37:g.92459385G>A	ENSP00000320634:p.Val115Ile					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V115I	p.V115I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	557	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		115					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.343G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816791	0.32145	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.79940	-1.32;-1.32;0.38	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.123638	0.53938	D	0.000050	T	0.64091	0.2567	N	0.21617	0.685	0.80722	D	1	B;P;B	0.35011	0.054;0.48;0.046	B;B;B	0.24394	0.01;0.043;0.053	T	0.66508	-0.5906	10	0.02654	T	1	.	18.1361	0.89619	0.0:0.0:1.0:0.0	.	57;115;115	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	115;115;57	ENSP00000320634:V115I;ENSP00000387846:V115I;ENSP00000450559:V57I	ENSP00000320634:V115I	V	+	1	0	SLCO3A1	90260389	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.108000	0.71522	2.612000	0.88384	0.655000	0.94253	GTC		0.706	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	70	0	0	0	1	0	4	70					A	92459385	G	A	92459385	3	1	47	1	0	0	0	0	1	0	0	0	14778	1145	40	1	349	1	SLCO3A1	15	92459385	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1461640	92459385	10072007	231	5814											
LRRK1	79705	broad.mit.edu	37	chr15	101606007	101606007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagggacatgtttcccGtgcggcccttggacacggaa	12	14	1	0	rs536296948		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:101606007G>A	ENST00000388948.3	+	32	5724	c.5365G>A	c.(5365-5367)Gtg>Atg	p.V1789M	LRRK1_ENST00000284395.5_Missense_Mutation_p.V1786M|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.V1789M(1)|p.V1801M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATGTTTCCCGTGCGGCCCTT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16930	0.0		0.0	False		,,,				2504	0.001					ENST00000284395.5																			2	Substitution - Missense(2)	p.V1789M(1)|p.V1801M(1)	kidney(2)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5356-5358)Gtg>Atg		leucine-rich repeat kinase 1							45	53	51					15																	101606007		2027	4177	6204	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606007G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5365G>A	15.37:g.101606007G>A	ENSP00000373600:p.Val1789Met					LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1789M|RP11-505E24.2_ENST00000559857.1_RNA	p.V1786M			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5756	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1789						Missense_Mutation	SNP	ENST00000388948.3	37	c.5356G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402235	0.42613	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.77750	-1.1;-1.12	5.7	4.78	0.61160	.	0.204720	0.42420	D	0.000710	T	0.78578	0.4305	L	0.59436	1.845	0.31715	N	0.639083	D	0.63880	0.993	P	0.53224	0.721	T	0.81250	-0.1018	10	0.62326	D	0.03	.	7.2068	0.25911	0.1327:0.1615:0.7058:0.0	.	1789	Q38SD2	LRRK1_HUMAN	M	1789;1786;480;343	ENSP00000373600:V1789M;ENSP00000284395:V1786M	ENSP00000284395:V1786M	V	+	1	0	LRRK1	99423530	0.954000	0.32549	0.082000	0.20525	0.104000	0.19210	1.634000	0.37123	2.675000	0.91044	0.655000	0.94253	GTG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	115	0	0	0	1	0	4	115					A	101606007	G	A	101606007	3	1	47	1	0	0	0	0	1	0	0	0	9070	1145	40	1	5487	1	LRRK1	15	101606007	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9146622	101606007	925385	232	5815											
SRRM2	23524	broad.mit.edu	37	chr16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaaggtcacctgcccGgcaggaaagttcccggacct	10	15	3	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1827	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5479-5481)cGg>cAg		serine/arginine repetitive matrix 2							38	43	42					16																	2816009		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816009G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5480G>A	16.37:g.2816009G>A	ENSP00000301740:p.Arg1827Gln						p.R1827Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6029	+			1827			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5480G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134248	0.37630	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.28666	1.6	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000037	T	0.34077	0.0885	N	0.08118	0	0.29814	N	0.831367	D	0.69078	0.997	D	0.70227	0.968	T	0.28299	-1.0048	10	0.40728	T	0.16	-8.8333	14.803	0.69929	0.0:0.0:1.0:0.0	.	1827	Q9UQ35	SRRM2_HUMAN	Q	1827;1827;1079	ENSP00000301740:R1827Q	ENSP00000301740:R1827Q	R	+	2	0	SRRM2	2756010	0.891000	0.30450	0.998000	0.56505	0.994000	0.84299	5.510000	0.67018	2.562000	0.86427	0.650000	0.86243	CGG		0.652	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	174	0	0	0	1	0	5	174					A	2816009	G	A	2816009	3	1	47	1	0	0	0	0	1	0	0	0	15221	1116	39	1	5518	1	SRRM2	16	2816009	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08		2816009	87538744	233	5816											
NPIP	9284	broad.mit.edu	37	chr16	15045758	15045759	+	Frame_Shift_Ins	INS	-	-	GT													aatctcaagacacctcccgaINSgtgtctgctcactccccttc					rs573038613	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:15045758_15045759insGT	ENST00000328085.6	+	8	929_930	c.929_930insGT	c.(928-933)gagtgtfs	p.EC310fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	310	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ACACCTCCCGAGTGTCTGCTCA	0.559																																						ENST00000328085.6																			0											c.(928-930)gtgfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045758_15045759insGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.932_933dupGT	16.37:g.15045761_15045762dupGT	ENSP00000331843:p.Glu310fs					NPIPA1_ENST00000472413.1_3'UTR	p.V310fs	NM_006985.2	NP_008916.2					8	929_930	+								O15102	Frame_Shift_Ins	INS	ENST00000328085.6	37	c.929_930insGT	CCDS10557.1																																																																																				0.559	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		7	620						7	620	---	---	---	---	GT	15045759	-	GT	15045758	7	5	47	1	0	1	1	0	0	0	0	0	10626	304	11	0	959	0	NPIP	16	15045758	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	12229749	15045758	75308995	234	5817											
ACSM5	54988	broad.mit.edu	37	chr16	20423005	20423005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatgtgtggagtcggctgGaagaggtgaagcctgttctg	18	5	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:20423005G>A	ENST00000331849.4	+	2	346	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ACSM5_ENST00000575584.1_Missense_Mutation_p.E67K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	67					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGTCGGCTGGAAGAGGTGAA	0.557																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(199-201)Gaa>Aaa		acyl-CoA synthetase medium-chain family member 5							73	60	64					16																	20423005		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20423005G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.199G>A	16.37:g.20423005G>A	ENSP00000327916:p.Glu67Lys					ACSM5_ENST00000575584.1_Missense_Mutation_p.E67K	p.E67K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			2	346	+			67					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.199G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088457	0.76756	.	.	ENSG00000183549	ENST00000331849	T	0.38077	1.16	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000017	T	0.47358	0.1441	L	0.43152	1.355	0.35474	D	0.797622	D	0.76494	0.999	D	0.63957	0.92	T	0.59252	-0.7489	10	0.87932	D	0	-22.6271	11.0022	0.47614	0.0864:0.0:0.9136:0.0	.	67	Q6NUN0	ACSM5_HUMAN	K	67	ENSP00000327916:E67K	ENSP00000327916:E67K	E	+	1	0	ACSM5	20330506	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.757000	0.62213	2.417000	0.82017	0.655000	0.94253	GAA		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		5	222	0	0	0	1	0	5	222					A	20423005	G	A	20423005	3	1	47	1	0	0	0	0	1	0	0	0	187	1175	41	2	201	2	ACSM5	16	20423005	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	5377247	20423005	69931748	235	5818											
ATP2A1	487	broad.mit.edu	37	chr16	28914723	28914723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgccagtcattgggctcgAcgaaatcctcaagttcgttg	10	11	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:28914723A>C	ENST00000357084.3	+	21	3209	c.2942A>C	c.(2941-2943)gAc>gCc	p.D981A	ATP2A1_ENST00000536376.1_Missense_Mutation_p.D856A|ATP2A1_ENST00000395503.4_Missense_Mutation_p.D981A	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	981					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATTGGGCTCGACGAAATCCTC	0.612																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2941-2943)gAc>gCc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							135	107	117					16																	28914723		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914723A>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2942A>C	16.37:g.28914723A>C	ENSP00000349595:p.Asp981Ala					ATP2A1_ENST00000357084.3_Missense_Mutation_p.D981A|ATP2A1_ENST00000536376.1_Missense_Mutation_p.D856A	p.D981A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			21	3126	+			981					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2942A>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277796	0.80692	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95853	-3.83;-3.83;-2.44	5.62	5.62	0.85841	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98061	1.0393	10	0.87932	D	0	.	14.7877	0.69816	1.0:0.0:0.0:0.0	.	856;981;981	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	A	981;981;856	ENSP00000349595:D981A;ENSP00000378879:D981A;ENSP00000443101:D856A	ENSP00000349595:D981A	D	+	2	0	ATP2A1	28822224	1.000000	0.71417	0.216000	0.23742	0.740000	0.42216	9.110000	0.94302	2.138000	0.66242	0.459000	0.35465	GAC		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		172	200	0	0	0	1	0	172	200					C	28914723	A	C	28914723	3	2	47	1	0	0	0	0	1	0	0	0	1137	275	10	4	3024	4	ATP2A1	16	28914723	Missense_Mutation	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	8491718	28914723	61440030	236	5819											
PRR14	78994	broad.mit.edu	37	chr16	30667562	30667562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccctgctccagcagcGgctggaggagctagatgcct	15	14	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:30667562G>A	ENST00000542965.2	+	11	2144	c.1688G>A	c.(1687-1689)cGg>cAg	p.R563Q	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R563Q			Q9BWN1	PRR14_HUMAN	proline rich 14	563										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTCCAGCAGCGGCTGGAGGAG	0.637																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1687-1689)cGg>cAg		proline rich 14							34	41	39					16																	30667562		2193	4288	6481	SO:0001583	missense	78994							g.chr16:30667562G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1688G>A	16.37:g.30667562G>A	ENSP00000441641:p.Arg563Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R563Q	p.R563Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	2144	+			563					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1688G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393412	0.83011	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.55588	0.51;0.51	5.98	5.98	0.97165	.	0.065664	0.64402	D	0.000016	T	0.70351	0.3214	L	0.56769	1.78	0.33755	D	0.621066	D	0.89917	1.0	D	0.85130	0.997	T	0.77172	-0.2685	10	0.72032	D	0.01	-12.3479	17.346	0.87309	0.0:0.0:1.0:0.0	.	563	Q9BWN1	PRR14_HUMAN	Q	536;563;563	ENSP00000300835:R563Q;ENSP00000441641:R563Q	ENSP00000287463:R536Q	R	+	2	0	PRR14	30575063	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.747000	0.55134	2.839000	0.97877	0.650000	0.86243	CGG		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		6	355	0	0	0	1	0	6	355					A	30667562	G	A	30667562	3	1	47	1	0	0	0	0	1	0	0	0	12633	1116	39	1	1730	1	PRR14	16	30667562	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1752839	30667562	59687191	237	5820											
SALL1	6299	broad.mit.edu	37	chr16	51175457	51175457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttccatgagggctgggaCggccagcttgcccccagagg	15	12	0	2	rs149603480		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:51175457C>T	ENST00000251020.4	-	2	709	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V129I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	226					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.V226I(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)			AGGGCTGGGACGGCCAGCTTG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15826	0.001		0.0	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.V226I(1)	large_intestine(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						c.(385-387)Gtc>Atc		spalt-like transcription factor 1		C	ILE/VAL,ILE/VAL	0,4396		0,0,2198	70	75	73		385,676	0.6	0.7	16	dbSNP_134	73	5,8595	4.3+/-15.6	0,5,4295	no	missense,missense	SALL1	NM_001127892.1,NM_002968.2	29,29	0,5,6493	TT,TC,CC		0.0581,0.0,0.0385	benign,benign	129/1228,226/1325	51175457	5,12991	2198	4300	6498	SO:0001583	missense	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.chr16:51175457C>T	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.676G>A	16.37:g.51175457C>T	ENSP00000251020:p.Val226Ile					SALL1_ENST00000251020.4_Missense_Mutation_p.V226I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.V129I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	816	-		all_cancers(37;0.0322)	226					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.385G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060377	0.01950	0.0	5.81E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.03689	3.84;3.96	5.37	0.636	0.17729	.	0.164918	0.53938	N	0.000059	T	0.01387	0.0045	N	0.02916	-0.46	0.43137	D	0.994888	B	0.13594	0.008	B	0.04013	0.001	T	0.50083	-0.8869	10	0.02654	T	1	.	10.7066	0.45958	0.0:0.6902:0.0:0.3098	.	226	Q9NSC2	SALL1_HUMAN	I	226;129;190	ENSP00000251020:V226I;ENSP00000407914:V129I	ENSP00000251020:V226I	V	-	1	0	SALL1	49732958	0.994000	0.37717	0.692000	0.30179	0.505000	0.33919	2.525000	0.45598	0.235000	0.21160	0.561000	0.74099	GTC		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		225	243	0	0	0	1	0	225	243					T	51175457	C	T	51175457	3	4	47	1	0	0	0	0	1	0	0	0	13860	536	19	1	3306	1	SALL1	16	51175457	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	20507895	51175457	39179296	238	5821											
IRX6	79190	broad.mit.edu	37	chr16	55362757	55362757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagttccgaaagggcgcGcagtcactgcctgggccgtg	16	12	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:55362757G>A	ENST00000290552.7	+	5	2199	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	289					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GAAAGGGCGCGCAGTCACTGC	0.657																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(865-867)gcG>gcA		iroquois homeobox 6							35	38	37					16																	55362757		2195	4297	6492	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362757G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.867G>A	16.37:g.55362757G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.A289A	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2199	+			289					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.867G>A	CCDS32449.1																																																																																				0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		6	323	0	0	0	1	0	6	323					A	55362757	G	A	55362757	2	1	47	1	0	0	0	0	0	0	0	1	7878	1074	38	1		1	IRX6	16	55362757	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4187300	55362757	34991996	239	5822											
ZFHX3	463	broad.mit.edu	37	chr16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-													cacgccaggcagtggtacgaGccgccgccgccgccgccgcc							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		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)			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)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				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						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	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.chr16:72821594_72821596delGCC	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.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.69	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	418						13	418	---	---	---	---	-	72821596	GCC	-	72821594	7	5	47	1	0	1	0	1	0	0	0	0	17687	958	34	0	534	0	ZFHX3	16	72821594	In_Frame_Del	DEL	GCC	TCGA-FB-AAPP-01A-12D-A40W-08	17458837	72821594	17533159	240	5823											
CMIP	80790	broad.mit.edu	37	chr16	81641270	81641270	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtactgtttacagctcacGattcctgggggaactgtctt	10	9	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:81641270G>A	ENST00000537098.3	+	2	471	c.399G>A	c.(397-399)acG>acA	p.T133T	CMIP_ENST00000539778.2_Silent_p.T39T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	133	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TACAGCTCACGATTCCTGGGG	0.493																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(397-399)acG>acA		c-Maf inducing protein							84	83	83					16																	81641270		1933	4162	6095	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81641270G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.399G>A	16.37:g.81641270G>A						CMIP_ENST00000539778.2_Silent_p.T39T	p.T133T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			2	471	+			99					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.399G>A	CCDS54044.1																																																																																				0.493	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	160	0	0	0	1	0	4	160					A	81641270	G	A	81641270	2	1	47	1	0	0	0	0	0	0	0	1	3587	1045	37	1		1	CMIP	16	81641270	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	8819676	81641270	8713483	241	5824											
IRF8	3394	broad.mit.edu	37	chr16	85952250	85952250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgggcacctggagcgcGgggtgctgctgcacagcagc	17	12	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:85952250G>A	ENST00000268638.5	+	7	1251	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	IRF8_ENST00000562492.1_Missense_Mutation_p.G73R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	277					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCTGGAGCGCGGGGTGCTGCT	0.721																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(829-831)Ggg>Agg		interferon regulatory factor 8							15	19	18					16																	85952250		2194	4293	6487	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952250G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.829G>A	16.37:g.85952250G>A	ENSP00000268638:p.Gly277Arg					IRF8_ENST00000562492.1_Missense_Mutation_p.G73R	p.G277R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1251	+		Prostate(104;0.0771)	277					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.829G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466666	0.96257	.	.	ENSG00000140968	ENST00000268638	D	0.99888	-7.54	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96270	0.9198	10	0.66056	D	0.02	-39.6172	18.8755	0.92332	0.0:0.0:1.0:0.0	.	277	Q02556	IRF8_HUMAN	R	277	ENSP00000268638:G277R	ENSP00000268638:G277R	G	+	1	0	IRF8	84509751	1.000000	0.71417	0.868000	0.34077	0.984000	0.73092	9.159000	0.94728	2.534000	0.85438	0.650000	0.86243	GGG		0.721	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		9	89	0	0	0	1	0	9	89					A	85952250	G	A	85952250	3	1	47	1	0	0	0	0	1	0	0	0	7866	1116	39	1	851	1	IRF8	16	85952250	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4310980	85952250	4402503	242	5825											
SPG7	6687	broad.mit.edu	37	chr16	89579447	89579447	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctgaagaggacgaaggTatattcatctgatgttcttc	11	8	3	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:89579447T>C	ENST00000268704.2	+	3	391		c.e3+2		SPG7_ENST00000341316.2_Splice_Site	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGGACGAAGGTATATTCATCT	0.423																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.e3+2		spastic paraplegia 7 (pure and complicated autosomal recessive)							109	98	102					16																	89579447		2197	4298	6495	SO:0001630	splice_region_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89579447T>C	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.376+2T>C	16.37:g.89579447T>C						SPG7_ENST00000341316.2_Splice_Site		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	3	391	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)						O75756|Q2TB70|Q58F00|Q96IB0	Splice_Site	SNP	ENST00000268704.2	37		CCDS10977.1	.	.	.	.	.	.	.	.	.	.	T	8.570	0.879929	0.17467	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5497	0.45081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPG7	88106948	1.000000	0.71417	0.892000	0.35008	0.010000	0.07245	3.395000	0.52558	1.805000	0.52779	0.482000	0.46254	.		0.423	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	Intron	30	3	0	0	0	1	0	30	3					C	89579447	T	C	89579447	5	2	47	1	0	0	0	0	0	0	1	0	15096	1652	57	4	388	4	SPG7	16	89579447	Splice_Site	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	3627197	89579447	775306	243	5826											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		10	285						10	285	---	---	---	---	-	16335492	TGC	-	16335490	7	5	47	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-FB-AAPP-01A-12D-A40W-08		16335490	64859720	244	5827											
TMEM199	147007	broad.mit.edu	37	chr17	26685942	26685942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccttttcttctcagattCcaaactatacctccatgagc	3	13	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:26685942C>T	ENST00000292114.3	+	2	305	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'Flank|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000509083.1_Missense_Mutation_p.S72F|POLDIP2_ENST00000540200.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	72						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTCTCAGATTCCAAACTATAC	0.438																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(214-216)tCc>tTc		transmembrane protein 199							127	114	118					17																	26685942		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26685942C>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.215C>T	17.37:g.26685942C>T	ENSP00000292114:p.Ser72Phe					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000509083.1_Missense_Mutation_p.S72F|TMEM199_ENST00000581386.1_3'UTR	p.S72F	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	305	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		72						Missense_Mutation	SNP	ENST00000292114.3	37	c.215C>T	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459990	0.84317	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.35236	1.34;1.32	5.63	4.64	0.57946	.	0.398760	0.31392	N	0.007738	T	0.42765	0.1217	L	0.27053	0.805	0.53688	D	0.999973	D;P	0.67145	0.996;0.8	P;B	0.59703	0.862;0.347	T	0.38845	-0.9642	10	0.54805	T	0.06	-4.8233	14.4678	0.67494	0.0:0.853:0.147:0.0	.	72;72	E9PBQ3;Q8N511	.;TM199_HUMAN	F	72	ENSP00000292114:S72F;ENSP00000427614:S72F	ENSP00000292114:S72F	S	+	2	0	TMEM199	23710069	0.105000	0.21958	0.978000	0.43139	0.928000	0.56348	1.898000	0.39809	1.342000	0.45619	0.655000	0.94253	TCC		0.438	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		11	211	0	0	0	1	0	11	211					T	26685942	C	T	26685942	3	4	47	1	0	0	0	0	1	0	0	0	16172	855	30	2	221	2	TMEM199	17	26685942	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	10350452	26685942	54509268	245	5828											
RDM1	201299	broad.mit.edu	37	chr17	34247233	34247233	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcgcatctgacacctacGatgtcttcactgggtctgta	8	12	5	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:34247233G>A	ENST00000293273.6	-	6	756	c.711C>T	c.(709-711)atC>atT	p.I237I	RDM1_ENST00000394529.3_Silent_p.I214I|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Silent_p.I181I|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Silent_p.I204I	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	237					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGACACCTACGATGTCTTCAC	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(640-642)atC>atT	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							123	115	118					17																	34247233		2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34247233G>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.711C>T	17.37:g.34247233G>A						RDM1_ENST00000431884.2_Silent_p.I204I|RDM1_ENST00000293273.6_Silent_p.I237I|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Silent_p.I181I	p.I214I	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1128	-		Ovarian(249;0.17)	237					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.642C>T	CCDS11301.1																																																																																				0.368	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		9	310	0	0	0	1	0	9	310					A	34247233	G	A	34247233	2	1	47	1	0	0	0	0	0	0	0	1	13247	1048	37	1		1	RDM1	17	34247233	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7561291	34247233	46947977	246	5829											
MAPT	4137	broad.mit.edu	37	chr17	44060806	44060806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggcaaagagaggccGgggagcaaggaggaggtgga	23	5	0	1	rs545400674	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:44060806G>A	ENST00000571987.1	+	5	636	c.636G>A	c.(634-636)ccG>ccA	p.P212P	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P212P|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.P212P|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.P212P|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	212					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AAGAGAGGCCGGGGAGCAAGG	0.692													G|||	2	0.000399361	0.0	0.0	5008	,	,		15558	0.0		0.0	False		,,,				2504	0.002					ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(634-636)ccG>ccA		microtubule-associated protein tau							31	21	25					17																	44060806		2195	4296	6491	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060806G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.636G>A	17.37:g.44060806G>A						MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P212P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.P212P|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Silent_p.P212P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron	p.P212P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	958	+		Melanoma(429;0.216)	212					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.636G>A	CCDS11501.1																																																																																				0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		5	75	0	0	0	1	0	5	75					A	44060806	G	A	44060806	2	1	47	1	0	0	0	0	0	0	0	1	9338	1103	39	1		1	MAPT	17	44060806	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9813573	44060806	37134404	247	5830											
OSBPL7	114881	broad.mit.edu	37	chr17	45891044	45891044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgcagagtgttgagcGgctcgttgagctgcacaggc	16	11	0	3			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:45891044G>A	ENST00000007414.3	-	15	1699	c.1508C>T	c.(1507-1509)cCg>cTg	p.P503L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P503L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	503					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGTTGAGCGGCTCGTTGAG	0.637																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1507-1509)cCg>cTg		oxysterol binding protein-like 7							55	53	54					17																	45891044		2203	4299	6502	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45891044G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1508C>T	17.37:g.45891044G>A	ENSP00000007414:p.Pro503Leu					OSBPL7_ENST00000392507.3_Missense_Mutation_p.P503L	p.P503L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			15	1699	-			503					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1508C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733364	0.89482	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.57436	0.4;0.4	5.16	4.16	0.48862	.	0.172031	0.52532	D	0.000075	T	0.81356	0.4805	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87812	0.2632	10	0.87932	D	0	-29.9454	14.338	0.66606	0.0:0.15:0.85:0.0	.	503	Q9BZF2	OSBL7_HUMAN	L	503	ENSP00000007414:P503L;ENSP00000376295:P503L	ENSP00000007414:P503L	P	-	2	0	OSBPL7	43246043	1.000000	0.71417	0.964000	0.40570	0.980000	0.70556	9.670000	0.98625	1.114000	0.41781	0.591000	0.81541	CCG		0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		25	233	0	0	0	1	0	25	233					A	45891044	G	A	45891044	3	1	47	1	0	0	0	0	1	0	0	0	11324	1116	39	1	1056	1	OSBPL7	17	45891044	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1830238	45891044	35304166	248	5831											
RNF43	54894	broad.mit.edu	37	chr17	56492756	56492757	+	Frame_Shift_Del	DEL	CA	CA	-													acaccttccaaagtgagattCagttttcctgtggggtccat							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:56492756_56492757delCA	ENST00000584437.1	-	1	2137_2138	c.182_183delTG	c.(181-183)ctgfs	p.L61fs	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.L61fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.L61fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	61					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGTGAGATTCAGTTTTCCTGT	0.426																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(181-183)cfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492756_56492757delCA		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.182_183delTG	17.37:g.56492756_56492757delCA	ENSP00000463069:p.Leu61fs					RNF43_ENST00000583753.1_Frame_Shift_Del_p.L61fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.L61fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.L61fs	p.L61fs			Q68DV7	RNF43_HUMAN			1	2137_2138	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		61					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.182_183delTG	CCDS11607.1																																																																																				0.426	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		308	29						308	29	---	---	---	---	-	56492757	CA	-	56492756	7	5	47	1	0	1	0	1	0	0	0	0	13545	813	29	0	2204	0	RNF43	17	56492756	Frame_Shift_Del	DEL	CA	TCGA-FB-AAPP-01A-12D-A40W-08	10601712	56492756	24702454	249	5832											
KIAA1012	22878	broad.mit.edu	37	chr18	29453417	29453418	+	Frame_Shift_Ins	INS	-	-	A													gctggtcgtctgtcatggccINSaaaaaaaacccgtgttgctg							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:29453417_29453418insA	ENST00000283351.4	-	14	2372_2373	c.2037_2038insT	c.(2035-2040)tttggcfs	p.G680fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.G626fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	680					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTCATGGCCAAAAAAAACCC	0.356																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2035-2040)ttgccafs		trafficking protein particle complex 8																																				SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29453417_29453418insA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2038dupT	18.37:g.29453425_29453425dupA	ENSP00000283351:p.Gly680fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.LP625fs	p.LP679fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			14	2372_2373	-			679					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Ins	INS	ENST00000283351.4	37	c.2037_2038insT	CCDS11901.1																																																																																				0.356	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		7	176						7	176	---	---	---	---	A	29453418	-	A	29453417	7	5	47	1	0	1	1	0	0	0	0	0	8234	594	21	0	2333	0	KIAA1012	18	29453417	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08		29453417	48623831	250	5833											
MYO5B	4645	broad.mit.edu	37	chr18	47373562	47373562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgtcctctttgtggtaCtccagcatgccctggaaatc	9	14	1	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:47373562C>T	ENST00000285039.7	-	33	4712	c.4413G>A	c.(4411-4413)gaG>gaA	p.E1471E	MYO5B_ENST00000592688.1_Silent_p.E41E|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E586E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1471					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTTGTGGTACTCCAGCATGC	0.617																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4411-4413)gaG>gaA		myosin VB							84	91	89					18																	47373562		2118	4226	6344	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47373562C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4413G>A	18.37:g.47373562C>T						SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E586E|MYO5B_ENST00000592688.1_Silent_p.E41E	p.E1471E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	33	4712	-			1471					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4413G>A	CCDS42436.1																																																																																				0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	246	0	0	0	1	0	6	246					T	47373562	C	T	47373562	2	4	47	1	0	0	0	0	0	0	0	1	10120	564	20	2		2	MYO5B	18	47373562	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	17920145	47373562	30703686	251	5834											
SALL3	27164	broad.mit.edu	37	chr18	76753947	76753947	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtttccgttcggggggctGctagactcgatgcaaacgtc	13	11	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:76753947G>T	ENST00000537592.2	+	2	1956	c.1956G>T	c.(1954-1956)ctG>ctT	p.L652L	SALL3_ENST00000575389.2_Silent_p.L652L|SALL3_ENST00000536229.3_Silent_p.L519L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	652					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)			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)		TCGGGGGGCTGCTAGACTCGA	0.642																																						ENST00000536229.3																			0				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						c.(1555-1557)ctG>ctT		spalt-like transcription factor 3							24	24	24					18																	76753947		2201	4298	6499	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753947G>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.1956G>T	18.37:g.76753947G>T						SALL3_ENST00000575389.2_Silent_p.L652L|SALL3_ENST00000537592.2_Silent_p.L652L	p.L519L			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2266	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	652					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1557G>T	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	61	1	0	0.000157383	1	0.000162166	8	61					T	76753947	G	T	76753947	2	4	47	1	0	0	0	0	0	0	0	1	13862	1306	46	3		3	SALL3	18	76753947	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	29380385	76753947	1323301	252	5835											
HMHA1	23526	broad.mit.edu	37	chr19	1073174	1073175	+	Frame_Shift_Ins	INS	-	-	C													tgaggcccgccgcccgcgggINScccacgagtgcctgggtgag							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:1073174_1073175insC	ENST00000313093.2	+	3	679_680	c.448_449insC	c.(448-450)gccfs	p.A150fs	HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Frame_Shift_Ins_p.A166fs|HMHA1_ENST00000590214.1_Frame_Shift_Ins_p.A177fs|HMHA1_ENST00000543365.1_Frame_Shift_Ins_p.A33fs|HMHA1_ENST00000586866.1_Frame_Shift_Ins_p.A154fs|HMHA1_ENST00000592335.1_Frame_Shift_Ins_p.P31fs	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	150					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCGCCCGCGGGCCCACGAGTGC	0.658																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(448-450)ccafs		histocompatibility (minor) HA-1																																				SO:0001589	frameshift_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073174_1073175insC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.451dupC	19.37:g.1073177_1073177dupC	ENSP00000316772:p.Ala150fs					HMHA1_ENST00000539243.2_Frame_Shift_Ins_p.P166fs|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Frame_Shift_Ins_p.P177fs|HMHA1_ENST00000592335.1_Frame_Shift_Ins_p.H31fs|HMHA1_ENST00000543365.1_Frame_Shift_Ins_p.P33fs|HMHA1_ENST00000586866.1_Frame_Shift_Ins_p.P154fs	p.P150fs	NM_012292.3	NP_036424.2	Q92619	HMHA1_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)	3	679_680	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	150					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Frame_Shift_Ins	INS	ENST00000313093.2	37	c.448_449insC	CCDS32863.1																																																																																				0.658	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			8	443						8	443	---	---	---	---	C	1073175	-	C	1073174	7	5	47	1	0	1	1	0	0	0	0	0	7270	1203	42	0	458	0	HMHA1	19	1073174	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08		1073174	58055809	253	5836											
ZNF554	115196	broad.mit.edu	37	chr19	2834138	2834138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgtatttggaaaatgGgcagtcattgaaccacggta	12	5	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:2834138G>A	ENST00000317243.5	+	5	1103	c.905G>A	c.(904-906)gGg>gAg	p.G302E	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGAAAATGGGCAGTCATTG	0.478																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(904-906)gGg>gAg		zinc finger protein 554							88	94	92					19																	2834138		2003	4164	6167	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834138G>A	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.905G>A	19.37:g.2834138G>A	ENSP00000321132:p.Gly302Glu					ZNF554_ENST00000591265.1_3'UTR	p.G302E	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1103	+		Hepatocellular(1079;0.137)	302					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.905G>A	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012780	0.35511	.	.	ENSG00000172006	ENST00000317243	T	0.34859	1.34	2.77	0.42	0.16444	.	.	.	.	.	T	0.30293	0.0760	L	0.60845	1.875	0.21861	N	0.999506	B	0.24721	0.11	B	0.20184	0.028	T	0.31888	-0.9927	9	0.72032	D	0.01	.	4.7363	0.12989	0.3488:0.0:0.6512:0.0	.	302	Q86TJ5	ZN554_HUMAN	E	302	ENSP00000321132:G302E	ENSP00000321132:G302E	G	+	2	0	ZNF554	2785138	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.961000	0.29267	0.039000	0.15632	-0.245000	0.11935	GGG		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		9	427	0	0	0	1	0	9	427					A	2834138	G	A	2834138	3	1	47	1	0	0	0	0	1	0	0	0	18038	1232	43	2	923	2	ZNF554	19	2834138	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1760964	2834138	56294845	254	5837											
VAV1	7409	broad.mit.edu	37	chr19	6828153	6828153	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatggtgcctatgcagCgagttctcaaatatcacctc	9	11	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:6828153C>T	ENST00000602142.1	+	10	1076	c.994C>T	c.(994-996)Cga>Tga	p.R332*	VAV1_ENST00000304076.2_Nonsense_Mutation_p.R332*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R277*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R235*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R300*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCTATGCAGCGAGTTCTCAA	0.557																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(994-996)Cga>Tga		vav 1 guanine nucleotide exchange factor							86	76	79					19																	6828153		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828153C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.994C>T	19.37:g.6828153C>T	ENSP00000472929:p.Arg332*					VAV1_ENST00000602142.1_Nonsense_Mutation_p.R332*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R277*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R300*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R235*	p.R332*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			10	1088	+			332			DH.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.994C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532118	0.85812	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.5	3.43	0.39272	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3561	0.49617	0.1829:0.8171:0.0:0.0	.	.	.	.	X	332;235	.	ENSP00000302269:R332X	R	+	1	2	VAV1	6779153	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	0.906000	0.28517	0.860000	0.35481	0.462000	0.41574	CGA		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			48	150	0	0	0	1	0	48	150					T	6828153	C	T	6828153	4	4	47	1	0	0	0	0	0	1	0	0	17185	760	27	1	1032	1	VAV1	19	6828153	Nonsense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	3994015	6828153	52300830	255	5838											
ZNF560	147741	broad.mit.edu	37	chr19	9578330	9578330	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtggtcacatttaaaGgttttctctctggcgtgaca	9	10	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:9578330G>T	ENST00000301480.4	-	10	1506	c.1293C>A	c.(1291-1293)acC>acA	p.T431T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACATTTAAAGGTTTTCTCTC	0.413																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1291-1293)acC>acA		zinc finger protein 560							66	72	70					19																	9578330		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578330G>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1293C>A	19.37:g.9578330G>T							p.T431T	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1506	-			431					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1293C>A	CCDS12214.1																																																																																				0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		5	284	1	0	0.000602214	1	0.000613732	5	284					T	9578330	G	T	9578330	2	4	47	1	0	0	0	0	0	0	0	1	18044	987	35	3		3	ZNF560	19	9578330	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2750177	9578330	49550653	256	5839											
ZNF443	10224	broad.mit.edu	37	chr19	12542412	12542412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataaggtccatctccacGctgcactgccatgtgtcttt	7	12	2	0	rs540722897	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:12542412G>A	ENST00000301547.5	-	4	771	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	192					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCATCTCCACGCTGCACTGCC	0.418													.|||	2	0.000399361	0.0	0.0014	5008	,	,		23166	0.0		0.001	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(574-576)Cgt>Tgt		zinc finger protein 443							78	77	77					19																	12542412		2202	4297	6499	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542412G>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.574C>T	19.37:g.12542412G>A	ENSP00000301547:p.Arg192Cys					CTD-3105H18.16_ENST00000595562.1_Intron	p.R192C	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	771	-			192						Missense_Mutation	SNP	ENST00000301547.5	37	c.574C>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910675	0.52439	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.18502	2.21	1.26	0.0529	0.14304	Zinc finger, C2H2 (1);	.	.	.	.	T	0.17450	0.0419	N	0.26042	0.785	0.09310	N	1	D	0.65815	0.995	P	0.53450	0.726	T	0.16276	-1.0408	9	0.87932	D	0	.	6.4724	0.22015	0.0:0.0:0.2955:0.7045	.	192	Q9Y2A4	ZN443_HUMAN	C	192	ENSP00000301547:R192C	ENSP00000301547:R192C	R	-	1	0	ZNF443	12403412	0.309000	0.24518	0.000000	0.03702	0.363000	0.29612	0.417000	0.21214	-0.011000	0.14247	0.461000	0.40582	CGT		0.418	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		14	454	0	0	0	1	0	14	454					A	12542412	G	A	12542412	3	1	47	1	0	0	0	0	1	0	0	0	17969	1087	38	1	1445	1	ZNF443	19	12542412	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2964082	12542412	46586571	257	5840											
PGLYRP2	114770	broad.mit.edu	37	chr19	15587252	15587252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatccaactctgtagcatTgaggctccatgcccccagca	10	14	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:15587252T>A	ENST00000340880.4	-	2	709	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N77Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	77					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCTGTAGCATTGAGGCTCCAT	0.577																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(229-231)Aat>Tat		peptidoglycan recognition protein 2							107	77	87					19																	15587252		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587252T>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.229A>T	19.37:g.15587252T>A	ENSP00000345968:p.Asn77Tyr					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N77Y	p.N77Y			Q96PD5	PGRP2_HUMAN			2	358	-			77					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.229A>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774901	0.31411	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05081	3.53;3.5	5.27	-9.65	0.00537	.	3.618340	0.00864	N	0.001941	T	0.06280	0.0162	L	0.44542	1.39	0.09310	N	1	P;P	0.51351	0.944;0.681	P;B	0.44811	0.461;0.119	T	0.43048	-0.9415	10	0.72032	D	0.01	-8.1911	4.2592	0.10733	0.0953:0.1593:0.4642:0.2813	.	77;77	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	77	ENSP00000345968:N77Y;ENSP00000292609:N77Y	ENSP00000292609:N77Y	N	-	1	0	PGLYRP2	15448252	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.414000	0.07114	-1.652000	0.01502	-2.304000	0.00258	AAT		0.577	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		6	154	0	0	0	1	0	6	154					A	15587252	T	A	15587252	3	1	47	1	0	0	0	0	1	0	0	0	11836	1812	63	5	1517	5	PGLYRP2	19	15587252	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	3044840	15587252	43541731	258	5841											
POP4	10775	broad.mit.edu	37	chr19	30099608	30099608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagaggcgaatgactccGatgtccaggtcagttcttgg	13	8	2	3	rs144806266		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:30099608G>A	ENST00000585603.1	+	2	2354	c.52G>A	c.(52-54)Gat>Aat	p.D18N	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000221770.3_De_novo_Start_InFrame			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	18					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)	p.D18Y(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GAATGACTCCGATGTCCAGGT	0.488																																					Melanoma(89;1165 1449 14085 34436 43672)	ENST00000585603.1																			1	Substitution - Missense(1)	p.D18Y(1)	lung(1)	breast(1)|endometrium(1)|lung(4)	6						c.(52-54)Gat>Aat		processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)		G	ASN/ASP	0,4406		0,0,2203	136	135	135		52	4.9	0.9	19	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	POP4	NM_006627.2	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	18/221	30099608	2,13004	2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30099608G>A	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.52G>A	19.37:g.30099608G>A	ENSP00000465213:p.Asp18Asn					POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_De_novo_Start_InFrame	p.D18N			O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	2354	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		18					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.52G>A	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109508	0.20714	0.0	2.33E-4	ENSG00000105171	ENST00000221770	.	.	.	4.93	4.93	0.64822	.	0.166481	0.51477	D	0.000082	T	0.40145	0.1105	L	0.51422	1.61	0.80722	D	1	P	0.41710	0.76	B	0.31191	0.125	T	0.29366	-1.0014	9	0.17832	T	0.49	-9.6693	13.8237	0.63338	0.0:0.0:1.0:0.0	.	18	O95707	RPP29_HUMAN	N	18	.	ENSP00000221770:D18N	D	+	1	0	POP4	34791448	0.984000	0.35163	0.911000	0.35937	0.062000	0.15995	4.055000	0.57441	2.719000	0.93026	0.655000	0.94253	GAT		0.488	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		15	426	0	0	0	1	0	15	426					A	30099608	G	A	30099608	3	1	47	1	0	0	0	0	1	0	0	0	12294	1058	37	1	58	1	POP4	19	30099608	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	14512356	30099608	29029375	259	5842											
TSHZ3	57616	broad.mit.edu	37	chr19	31769889	31769889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcagcaccttctgggcGtcttccttcccttccatttc	5	17	3	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:31769889G>A	ENST00000240587.4	-	2	1137	c.810C>T	c.(808-810)gaC>gaT	p.D270D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	270					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTCTGGGCGTCTTCCTTCC	0.512																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(808-810)gaC>gaT		teashirt zinc finger homeobox 3							170	148	155					19																	31769889		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769889G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.810C>T	19.37:g.31769889G>A							p.D270D	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1137	-	Esophageal squamous(110;0.226)		270					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.810C>T	CCDS12421.2																																																																																				0.512	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		25	556	0	0	0	1	0	25	556					A	31769889	G	A	31769889	2	1	47	1	0	0	0	0	0	0	0	1	16678	1136	40	1		1	TSHZ3	19	31769889	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1670281	31769889	27359094	260	5843											
DMKN	93099	broad.mit.edu	37	chr19	36000839	36000839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagattccccgctcccgcGggcttcattccctggctttt	8	18	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:36000839G>A	ENST00000339686.3	-	7	1188	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	DMKN_ENST00000462126.1_Intron|DMKN_ENST00000414866.2_Missense_Mutation_p.R51C|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000392206.2_Missense_Mutation_p.R51C|DMKN_ENST00000418261.1_Missense_Mutation_p.R338C|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000602781.1_Missense_Mutation_p.R51C|DMKN_ENST00000447113.2_Missense_Mutation_p.R338C|DMKN_ENST00000402589.2_Missense_Mutation_p.R51C|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.R338C|DMKN_ENST00000419602.1_Missense_Mutation_p.R277C|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000443640.1_Missense_Mutation_p.R51C|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000480502.1_Missense_Mutation_p.R51C|DMKN_ENST00000429837.1_Missense_Mutation_p.R277C|DMKN_ENST00000458071.1_Missense_Mutation_p.R51C|DMKN_ENST00000467637.1_Missense_Mutation_p.R51C|DMKN_ENST00000424570.2_Missense_Mutation_p.R338C|DMKN_ENST00000492341.2_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	338	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCTCCCGCGGGCTTCATTC	0.582											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(1012-1014)Cgc>Tgc		dermokine							69	74	72					19																	36000839		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36000839G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1012C>T	19.37:g.36000839G>A	ENSP00000342012:p.Arg338Cys		OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	DMKN_ENST00000424570.2_Missense_Mutation_p.R338C|DMKN_ENST00000440396.1_Missense_Mutation_p.R338C|DMKN_ENST00000467637.1_Missense_Mutation_p.R51C|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000392206.2_Missense_Mutation_p.R51C|DMKN_ENST00000447113.2_Missense_Mutation_p.R338C|DMKN_ENST00000480502.1_Missense_Mutation_p.R51C|DMKN_ENST00000419602.1_Missense_Mutation_p.R277C|DMKN_ENST00000414866.2_Missense_Mutation_p.R51C|DMKN_ENST00000458071.1_Missense_Mutation_p.R51C|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000429837.1_Missense_Mutation_p.R277C|DMKN_ENST00000443640.1_Missense_Mutation_p.R51C|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000402589.2_Missense_Mutation_p.R51C|DMKN_ENST00000418261.1_Missense_Mutation_p.R338C|DMKN_ENST00000602781.1_Missense_Mutation_p.R51C	p.R338C	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1188	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		338			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.1012C>T	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.020121|2.020121	0.35606|0.35606	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000402589;ENST00000339686;ENST00000392207;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000392206;ENST00000440396;ENST00000458071;ENST00000418261;ENST00000424570;ENST00000450261	.|T;T;T;T;T;T;T;T;T;T;T	.|0.46063	.|1.45;2.6;1.45;2.33;2.38;0.88;1.61;1.45;1.98;1.45;1.82	3.85|3.85	2.81|2.81	0.32909|0.32909	.|.	.|0.376653	.|0.19676	.|N	.|0.108623	T|T	0.54159|0.54159	0.1841|0.1841	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.998	.|D;D;D;D;D;P;P	.|0.91635	.|0.999;0.96;0.995;0.985;0.985;0.872;0.738	T|T	0.34403|0.34403	-0.9830|-0.9830	5|10	.|0.87932	.|D	.|0	-13.1464|-13.1464	7.3497|7.3497	0.26684|0.26684	0.1191:0.0:0.8809:0.0|0.1191:0.0:0.8809:0.0	.|.	.|338;338;338;277;277;338;51	.|E7EUS0;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8	.|.;.;.;.;.;DMKN_HUMAN;.	L|C	18|51;338;338;51;277;277;51;338;51;338;51;338;338;51	.|ENSP00000384509:R51C;ENSP00000342012:R338C;ENSP00000392222:R51C;ENSP00000405503:R277C;ENSP00000391036:R277C;ENSP00000406864:R51C;ENSP00000394908:R338C;ENSP00000376042:R51C;ENSP00000415277:R338C;ENSP00000414743:R338C;ENSP00000388404:R338C	.|ENSP00000342012:R338C	P|R	-|-	2|1	0|0	DMKN|DMKN	40692679|40692679	0.110000|0.110000	0.22057|0.22057	0.015000|0.015000	0.15790|0.15790	0.014000|0.014000	0.08584|0.08584	3.538000|3.538000	0.53597|0.53597	1.219000|1.219000	0.43474|0.43474	0.491000|0.491000	0.48974|0.48974	CCG|CGC		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		5	321	0	0	0	1	0	5	321					A	36000839	G	A	36000839	3	1	47	1	0	0	0	0	1	0	0	0	4598	1116	39	1	714	1	DMKN	19	36000839	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	4230950	36000839	23128144	261	5844											
SBSN	374897	broad.mit.edu	37	chr19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaggagccgaccagaCgtgcaagatgcatattgctg	15	9	0	2	rs138249808		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:36019170C>T	ENST00000452271.2	-	1	42	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	5						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)			GCCGACCAGACGTGCAAGATG	0.587																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(13-15)cGt>cAt		suprabasin		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36	33	34		14,14,14	-6.9	0	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	5/591,5/170,5/248	36019170	1,13005	2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019170C>T	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.14G>A	19.37:g.36019170C>T	ENSP00000430242:p.Arg5His					SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	42	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		5					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.14G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469512	0.04445	0.0	1.16E-4	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.91;0.92	4.38	-6.86	0.01676	.	2.111040	0.02268	N	0.068156	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11542	-1.0583	10	0.44086	T	0.13	.	3.5922	0.07993	0.1062:0.3275:0.3855:0.1809	.	5;5	Q6UWP8;E9PBV3	SBSN_HUMAN;.	H	5	ENSP00000430242:R5H;ENSP00000428771:R5H	ENSP00000430242:R5H	R	-	2	0	SBSN	40711010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.866000	0.04245	-1.707000	0.01402	-1.164000	0.01763	CGT		0.587	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		5	125	0	0	0	1	0	5	125					T	36019170	C	T	36019170	3	4	47	1	0	0	0	0	1	0	0	0	13914	536	19	1	1774	1	SBSN	19	36019170	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	18331	36019170	23109813	262	5845											
CEACAM8	1088	broad.mit.edu	37	chr19	43098947	43098947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctgccaggggatgcGccatctgcaggaaggggctg	17	12	1	0	rs200797632		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:43098947G>A	ENST00000244336.5	-	1	135	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12C|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CAGGGGATGCGCCATCTGCAG	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)Cgc>Tgc		carcinoembryonic antigen-related cell adhesion molecule 8							107	98	101					19																	43098947		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098947G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.34C>T	19.37:g.43098947G>A	ENSP00000244336:p.Arg12Cys					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12C	p.R12C	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	135	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.34C>T	CCDS12610.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	3.655	-0.070637	0.07228	.	.	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.96	0.05547	.	.	.	.	.	T	0.06050	0.0157	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34354	-0.9832	9	0.46703	T	0.11	.	6.6657	0.23039	0.3515:0.0:0.6485:0.0	.	12	P31997	CEAM8_HUMAN	C	12	ENSP00000244336:R12C	ENSP00000244336:R12C	R	-	1	0	CEACAM8	47790787	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.542000	0.00436	-1.003000	0.03425	-1.786000	0.00637	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			215	257	0	0	0	1	0	215	257					A	43098947	G	A	43098947	3	1	47	1	0	0	0	0	1	0	0	0	3207	1087	38	1	1035	1	CEACAM8	19	43098947	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	7079777	43098947	16030036	263	5846											
DMWD	1762	broad.mit.edu	37	chr19	46289829	46289829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcgaagtggaagacgcGcaggcagccatcctggctca	15	11	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:46289829G>A	ENST00000270223.6	-	3	970	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	DMWD_ENST00000377735.3_Missense_Mutation_p.R309C|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	309										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGGAAGACGCGCAGGCAGCCA	0.667																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(925-927)Cgc>Tgc		dystrophia myotonica, WD repeat containing							40	45	43					19																	46289829		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46289829G>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.925C>T	19.37:g.46289829G>A	ENSP00000270223:p.Arg309Cys					DMWD_ENST00000377735.3_Missense_Mutation_p.R309C	p.R309C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	970	-		Ovarian(192;0.0308)|all_neural(266;0.112)	309						Missense_Mutation	SNP	ENST00000270223.6	37	c.925C>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143767	0.77888	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.68025	-0.3;-0.3	3.75	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.83658	0.5302	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.87318	0.2316	10	0.87932	D	0	-22.9342	13.4383	0.61096	0.0:0.0:1.0:0.0	.	309;309	G5E9A7;Q09019	.;DMWD_HUMAN	C	309	ENSP00000366964:R309C;ENSP00000270223:R309C	ENSP00000270223:R309C	R	-	1	0	DMWD	50981669	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.303000	0.72794	2.129000	0.65627	0.407000	0.27541	CGC		0.667	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		6	161	0	0	0	1	0	6	161					A	46289829	G	A	46289829	3	1	47	1	0	0	0	0	1	0	0	0	4609	1087	38	1	1111	1	DMWD	19	46289829	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3190882	46289829	12839154	264	5847											
SYMPK	8189	broad.mit.edu	37	chr19	46345734	46345734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcgatttggccagcgtCgggggcaggttggctgtgag	18	9	0	1	rs150307195	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:46345734C>T	ENST00000245934.7	-	9	1105	c.861G>A	c.(859-861)ccG>ccA	p.P287P		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	287					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGGCCAGCGTCGGGGGCAGGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		17726	0.0		0.003	False		,,,				2504	0.0					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(859-861)ccG>ccA		symplekin		C		1,4405	2.1+/-5.4	0,1,2202	62	62	62		861	-12.3	0.1	19	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SYMPK	NM_004819.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		287/1275	46345734	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345734C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.861G>A	19.37:g.46345734C>T							p.P287P	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1105	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	287					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.861G>A	CCDS12676.2																																																																																				0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	263	0	0	0	1	0	6	263					T	46345734	C	T	46345734	2	4	47	1	0	0	0	0	0	0	0	1	15491	871	31	1		1	SYMPK	19	46345734	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	55905	46345734	12783249	265	5848											
SLC1A5	6510	broad.mit.edu	37	chr19	47290737	47290737	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcggctcccacggaggcgttGatggcggcggaggcggcgcc	20	13	0	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:47290737G>A	ENST00000542575.2	-	1	1114	c.486C>T	c.(484-486)atC>atT	p.I162I	SLC1A5_ENST00000594991.1_5'Flank|SLC1A5_ENST00000434726.2_5'Flank|SLC1A5_ENST00000412532.2_5'Flank	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	162					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CGGAGGCGTTGATGGCGGCGG	0.701																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(484-486)atC>atT		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						6	7	7					19																	47290737		2157	4240	6397	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47290737G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.486C>T	19.37:g.47290737G>A							p.I162I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	1	1114	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	162					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.486C>T	CCDS12692.1																																																																																				0.701	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			8	24	0	0	0	1	0	8	24					A	47290737	G	A	47290737	2	1	47	1	0	0	0	0	0	0	0	1	14485	1280	45	2		2	SLC1A5	19	47290737	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	945003	47290737	11838246	266	5849											
VN1R4	317703	broad.mit.edu	37	chr19	53770069	53770069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcacagctcatgagaaCaaaggggctgagagttggga	17	6	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:53770069C>T	ENST00000311170.4	-	1	903	c.850G>A	c.(850-852)Gtt>Att	p.V284I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	284					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTCATGAGAACAAAGGGGCTG	0.393										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(850-852)Gtt>Att		vomeronasal 1 receptor 4							80	74	76					19																	53770069		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770069C>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.850G>A	19.37:g.53770069C>T	ENSP00000310856:p.Val284Ile	HNSCC(26;0.072)					p.V284I	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	903	-			284					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.850G>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687381	0.00738	.	.	ENSG00000228567	ENST00000311170	T	0.25749	1.78	2.43	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	1.285450	0.06047	N	0.655860	T	0.21062	0.0507	L	0.37850	1.14	0.09310	N	1	P	0.40515	0.719	B	0.43478	0.421	T	0.15578	-1.0432	10	0.13470	T	0.59	.	9.7018	0.40192	0.0:0.4964:0.3796:0.124	.	284	Q7Z5H5	VN1R4_HUMAN	I	284	ENSP00000310856:V284I	ENSP00000310856:V284I	V	-	1	0	VN1R4	58461881	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-6.542000	0.00062	-3.401000	0.00171	-0.522000	0.04353	GTT		0.393	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		5	294	0	0	0	1	0	5	294					T	53770069	C	T	53770069	3	4	47	1	0	0	0	0	1	0	0	0	17234	478	17	2	58	2	VN1R4	19	53770069	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	6479332	53770069	5358914	267	5850											
LILRA2	11027	broad.mit.edu	37	chr19	55086976	55086976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcacacaacctctcctcCgagtggtcggcccccagtga	10	16	1	1	rs200182124		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	303	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672																																						ENST00000251377.3																			1	Substitution - coding silent(1)	p.S303S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(907-909)tcC>tcT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							45	49	47					19																	55086976		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr19:55086976C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.909C>T	19.37:g.55086976C>T						LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000396321.2_Intron	p.S303S						GBM - Glioblastoma multiforme(193;0.0963)	6	1042	+								O75020	Silent	SNP	ENST00000251377.3	37	c.909C>T	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	305	0	0	0	1	0	7	305					T	55086976	C	T	55086976	2	4	47	1	0	0	0	0	0	0	0	1	8817	639	23	1		1	LILRA2	19	55086976	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1316907	55086976	4042007	268	5851											
USP29	57663	broad.mit.edu	37	chr19	57642144	57642144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaaaccaatacattcGtagagttcaattttgacagt	7	6	1	3	rs570824915		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:57642144G>A	ENST00000254181.4	+	4	2555	c.2101G>A	c.(2101-2103)Gta>Ata	p.V701I	USP29_ENST00000598197.1_Missense_Mutation_p.V701I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	701	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATACATTCGTAGAGTTCAA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2101-2103)Gta>Ata		ubiquitin specific peptidase 29							76	72	73					19																	57642144		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642144G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2101G>A	19.37:g.57642144G>A	ENSP00000254181:p.Val701Ile					USP29_ENST00000598197.1_Missense_Mutation_p.V701I	p.V701I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2555	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	701						Missense_Mutation	SNP	ENST00000254181.4	37	c.2101G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	8.947	0.967330	0.18659	.	.	ENSG00000131864	ENST00000254181	T	0.46063	0.88	2.33	0.159	0.14968	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.46229	0.1382	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.60609	0.877	T	0.35992	-0.9766	9	0.21014	T	0.42	-2.763	6.0941	0.20010	0.1918:0.0:0.8082:0.0	.	701	Q9HBJ7	UBP29_HUMAN	I	701	ENSP00000254181:V701I	ENSP00000254181:V701I	V	+	1	0	USP29	62333956	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	0.106000	0.17784	-1.276000	0.01395	GTA		0.438	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			7	221	0	0	0	1	0	7	221					A	57642144	G	A	57642144	3	1	47	1	0	0	0	0	1	0	0	0	17113	1145	40	1	2103	1	USP29	19	57642144	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	2555168	57642144	1486839	269	5852											
DEFB126	81623	broad.mit.edu	37	chr20	126290	126290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgatgatgactactgcttCgatgtcttcgatggctccta	9	9	1	3	rs368122573		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:126290C>T	ENST00000382398.3	+	2	553	c.293C>T	c.(292-294)tCg>tTg	p.S98L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	98					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACTACTGCTTCGATGTCTTCG	0.458																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(292-294)tCg>tTg		defensin, beta 126		C	LEU/SER	0,4406		0,0,2203	134	127	130		293	-0.8	0	20		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	DEFB126	NM_030931.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	98/112	126290	1,13005	2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126290C>T		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"Defensins, beta"	15900	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 8"	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.293C>T	20.37:g.126290C>T	ENSP00000371835:p.Ser98Leu					DEFB126_ENST00000542572.1_3'UTR	p.S98L	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	553	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	98					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.293C>T	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615920	0.00828	0.0	1.16E-4	ENSG00000125788	ENST00000382398	T	0.37752	1.18	2.32	-0.759	0.11045	.	23.449500	0.00166	N	0.000000	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15665	-1.0429	10	0.27785	T	0.31	6.8902	6.9192	0.24378	0.0:0.7567:0.0:0.2433	.	98	Q9BYW3	DB126_HUMAN	L	98	ENSP00000371835:S98L	ENSP00000371835:S98L	S	+	2	0	DEFB126	74290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-0.119000	0.11830	-0.752000	0.03492	TCG		0.458	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		43	801	0	0	0	1	0	43	801					T	126290	C	T	126290	3	4	47	1	0	0	0	0	1	0	0	0	4427	893	31	1	299	1	DEFB126	20	126290	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		126290	62899230	270	5853											
SNPH	9751	broad.mit.edu	37	chr20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccacctgtgagcgtgCgggatgcctacggcacctct	11	16	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:1277814C>T	ENST00000381873.3	+	4	312	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	SNPH_ENST00000381867.1_Missense_Mutation_p.R70W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	26					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGAGCGTGCGGGATGCCTA	0.637																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(208-210)Cgg>Tgg		syntaphilin							45	35	38					20																	1277814		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1277814C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.76C>T	20.37:g.1277814C>T	ENSP00000371297:p.Arg26Trp					SNPH_ENST00000381873.3_Missense_Mutation_p.R26W	p.R70W			O15079	SNPH_HUMAN			5	850	+			26					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.208C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101714	0.76983	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.60521	0.2275	N	0.14661	0.345	0.48696	D	0.999699	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.66312	-0.5955	9	0.72032	D	0.01	-32.1973	14.4339	0.67268	0.1565:0.8435:0.0:0.0	.	70;26	O15079-2;O15079	.;SNPH_HUMAN	W	26;70	.	ENSP00000371291:R70W	R	+	1	2	SNPH	1225814	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.384000	0.59607	2.608000	0.88229	0.655000	0.94253	CGG		0.637	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		28	160	0	0	0	1	0	28	160					T	1277814	C	T	1277814	3	4	47	1	0	0	0	0	1	0	0	0	14900	759	27	1	82	1	SNPH	20	1277814	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	1151524	1277814	61747706	271	5854											
JAG1	182	broad.mit.edu	37	chr20	10629323	10629323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctctctcacagtgatcGcctgcatagccaggtggaca	10	12	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:10629323G>A	ENST00000254958.5	-	12	1958	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.G322G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	481	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGTGATCGCCTGCATAGC	0.463									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1441-1443)ggC>ggT		jagged 1							87	81	83					20																	10629323		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10629323G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1443C>T	20.37:g.10629323G>A						JAG1_ENST00000423891.2_Silent_p.G322G	p.G481G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			12	1958	-			481			EGF-like 7; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.1443C>T	CCDS13112.1																																																																																				0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		36	330	0	0	0	1	0	36	330					A	10629323	G	A	10629323	2	1	47	1	0	0	0	0	0	0	0	1	7964	1074	38	1		1	JAG1	20	10629323	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	9351509	10629323	52396197	272	5855											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-													caggccagatgtgattctggAaaaaggcgaagtgattgact							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:18142695delA	ENST00000435364.3	+	5	1255	c.914delA	c.(913-915)gaafs	p.E305fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Del_p.E304fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	305					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGATTCTGGAAAAAGGCGAA	0.537																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(913-915)gafs		CSRP2 binding protein							118	134	129					20																	18142695		2203	4300	6503	SO:0001589	frameshift_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142695delA	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.914delA	20.37:g.18142695delA	ENSP00000392318:p.Glu305fs					CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs	p.E305fs			Q9H8E8	CSR2B_HUMAN			6	1564	+			305					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Del	DEL	ENST00000435364.3	37	c.914delA	CCDS13133.1																																																																																				0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		9	1144						9	1144	---	---	---	---	-	18142695	A	-	18142695	7	5	47	1	0	1	0	1	0	0	0	0	3979	246	9	0	932	0	CSRP2BP	20	18142695	Frame_Shift_Del	DEL	A	TCGA-FB-AAPP-01A-12D-A40W-08	7513372	18142695	44882825	273	5856											
PHF20	51230	broad.mit.edu	37	chr20	34526717	34526717	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacatccctgtcactgacaCcaggagcaaggaggaagctc	10	12	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:34526717C>G	ENST00000374012.3	+	16	2528	c.2399C>G	c.(2398-2400)aCc>aGc	p.T800S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	800					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTCACTGACACCAGGAGCAAG	0.592																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2398-2400)aCc>aGc		PHD finger protein 20							68	69	68					20																	34526717		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526717C>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2399C>G	20.37:g.34526717C>G	ENSP00000363124:p.Thr800Ser					PHF20_ENST00000439301.1_3'UTR	p.T800S			Q9BVI0	PHF20_HUMAN			16	2528	+	Breast(12;0.00631)|all_lung(11;0.0145)		800					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.2399C>G	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380692	0.24944	.	.	ENSG00000025293	ENST00000374012	T	0.31247	1.5	5.35	2.12	0.27331	.	0.829614	0.11484	N	0.559410	T	0.13372	0.0324	N	0.12182	0.205	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16689	-1.0394	10	0.12766	T	0.61	.	3.6495	0.08198	0.3121:0.4886:0.1143:0.0851	.	800	Q9BVI0	PHF20_HUMAN	S	800	ENSP00000363124:T800S	ENSP00000363124:T800S	T	+	2	0	PHF20	33990131	0.991000	0.36638	0.816000	0.32577	0.848000	0.48234	1.923000	0.40055	0.907000	0.36646	0.655000	0.94253	ACC		0.592	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		8	517	0	0	0	1	0	8	517					G	34526717	C	G	34526717	3	3	47	1	0	0	0	0	1	0	0	0	11873	507	18	5	2457	5	PHF20	20	34526717	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	16384022	34526717	28498803	274	5857											
ZMYND8	23613	broad.mit.edu	37	chr20	45920611	45920611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgctgttccaatggaaCgggcttctggaatgcatctg	14	8	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:45920611C>T	ENST00000311275.7	-	6	782	c.529G>A	c.(529-531)Gtt>Att	p.V177I	ZMYND8_ENST00000372023.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V204I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V114I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V197I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V172I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V172I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000468376.2_5'UTR	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	177	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			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)			TCCAATGGAACGGGCTTCTGG	0.433																																						ENST00000311275.7																			0				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						c.(529-531)Gtt>Att		zinc finger, MYND-type containing 8							98	87	91					20																	45920611		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45920611C>T	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.529G>A	20.37:g.45920611C>T	ENSP00000312237:p.Val177Ile					ZMYND8_ENST00000360911.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V114I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V172I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V197I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V204I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V172I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V197I	p.V177I			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		6	782	-			177			Bromo.		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.529G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.575730|5.575730	0.96553|0.96553	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Bromodomain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64114|0.64114	0.2569|0.2569	M|M	0.87328|0.87328	2.875|2.875	0.54753|0.54753	D|D	0.999982|0.999982	.|P;P;P;P;P;B;D;P;B;D;D;D;D;P;D;P;P	.|0.76494	.|0.763;0.827;0.94;0.948;0.922;0.324;0.959;0.72;0.324;0.959;0.967;0.973;0.973;0.93;0.999;0.867;0.738	.|B;B;P;P;P;B;B;B;B;P;P;P;P;P;D;B;P	.|0.78314	.|0.274;0.41;0.539;0.591;0.452;0.179;0.404;0.087;0.06;0.555;0.539;0.729;0.729;0.692;0.991;0.413;0.545	T|T	0.68413|0.68413	-0.5415|-0.5415	5|10	.|0.72032	.|D	.|0.01	-17.5631|-17.5631	20.142|20.142	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|172;204;172;172;171;197;177;172;197;197;177;114;172;172;197;172;177	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H|I	103|172;177;172;177;197;197;177;204;177;114;197;172;172;152	.|ENSP00000354166:V172I;ENSP00000312237:V177I;ENSP00000392964:V172I;ENSP00000262975:V177I;ENSP00000420095:V197I;ENSP00000335537:V197I;ENSP00000379577:V177I;ENSP00000439800:V204I;ENSP00000348246:V177I;ENSP00000396725:V114I;ENSP00000418210:V197I;ENSP00000361093:V172I;ENSP00000443086:V172I;ENSP00000413727:V152I	.|ENSP00000262975:V177I	R|V	-|-	2|1	0|0	ZMYND8|ZMYND8	45354018|45354018	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.989000|0.989000	0.77384|0.77384	7.814000|7.814000	0.86154|0.86154	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.433	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		14	396	0	0	0	1	0	14	396					T	45920611	C	T	45920611	3	4	47	1	0	0	0	0	1	0	0	0	17764	536	19	1	3049	1	ZMYND8	20	45920611	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	11393894	45920611	17104909	275	5858											
ZNFX1	57169	broad.mit.edu	37	chr20	47879967	47879967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcatggtgcactccagGgtcttggctccttcatgaag	11	13	2	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:47879967G>A	ENST00000396105.1	-	6	2451	c.2205C>T	c.(2203-2205)acC>acT	p.T735T	ZNFX1_ENST00000371752.1_Silent_p.T735T|ZNFX1_ENST00000371754.4_Silent_p.T735T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	735							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCACTCCAGGGTCTTGGCTC	0.498																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2203-2205)acC>acT		zinc finger, NFX1-type containing 1							121	84	96					20																	47879967		2203	4299	6502	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47879967G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2205C>T	20.37:g.47879967G>A						ZNFX1_ENST00000371754.4_Silent_p.T735T|ZNFX1_ENST00000371752.1_Silent_p.T735T	p.T735T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	2451	-			735					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2205C>T	CCDS13417.1																																																																																				0.498	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		16	112	0	0	0	1	0	16	112					A	47879967	G	A	47879967	2	1	47	1	0	0	0	0	0	0	0	1	18258	1219	43	2		2	ZNFX1	20	47879967	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1959356	47879967	15145553	276	5859											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		413	15	0	0	0	1	0	413	15					T	57484420	C	T	57484420	3	4	47	1	0	0	0	0	1	0	0	0	6539	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	9604453	57484420	5541100	277	5860											
C20orf166	128826	broad.mit.edu	37	chr20	61162268	61162268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaggacccagcaggtGgcgcggggagagcccggctc	20	11	0	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:61162268G>A	ENST00000370527.3	+	3	860	c.81G>A	c.(79-81)gtG>gtA	p.V27V	MIR133A2_ENST00000347538.2_RNA|C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CCCAGCAGGTGGCGCGGGGAG	0.677																																						ENST00000370527.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(79-81)gtG>gtA		chromosome 20 open reading frame 166							10	12	12					20																	61162268		2177	4260	6437	SO:0001819	synonymous_variant	128826							g.chr20:61162268G>A	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.81G>A	20.37:g.61162268G>A						C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron	p.V27V	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	860	+	Breast(26;1.04e-08)		27		V -> A (in dbSNP:rs6062251).				Silent	SNP	ENST00000370527.3	37	c.81G>A	CCDS46627.1																																																																																				0.677	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		15	90	0	0	0	1	0	15	90					A	61162268	G	A	61162268	2	1	47	1	0	0	0	0	0	0	0	1	2102	1335	47	2		2	C20orf166	20	61162268	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	3677848	61162268	1863252	278	5861											
TPTE	7179	broad.mit.edu	37	chr21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaatatgcaacatatctCttctgaaaagcaacagaaat	5	8	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000298232.7_Missense_Mutation_p.K373N|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000361285.4_Missense_Mutation_p.K391N|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	281	1	0	0.184627	1	0.184627	5	281					A	10916473	C	A	10916473	3	1	47	1	0	0	0	0	1	0	0	0	16483	912	32	3	502	3	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		10916473	37213422	279	5862											
ERG	2078	broad.mit.edu	37	chr21	39755757	39755757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcatcttgaactccccGttggtgccttcccaggtgat	9	14	2	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:39755757G>A	ENST00000417133.2	-	12	1214	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ERG_ENST00000442448.1_Silent_p.N319N|ERG_ENST00000453032.2_Silent_p.N244N|ERG_ENST00000398907.1_Silent_p.N313N|ERG_ENST00000398910.1_Silent_p.N320N|ERG_ENST00000398919.2_Silent_p.N343N|ERG_ENST00000398897.1_Silent_p.N220N|ERG_ENST00000398905.1_Silent_p.N312N|ERG_ENST00000398911.1_Silent_p.N319N|ERG_ENST00000288319.7_Silent_p.N336N	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGAACTCCCCGTTGGTGCCTT	0.607			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(955-957)aaC>aaT		v-ets avian erythroblastosis virus E26 oncogene homolog							72	68	69					21																	39755757		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755757G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1029C>T	21.37:g.39755757G>A						ERG_ENST00000398897.1_Silent_p.N220N|ERG_ENST00000398919.2_Silent_p.N343N|ERG_ENST00000417133.2_Silent_p.N343N|ERG_ENST00000398905.1_Silent_p.N312N|ERG_ENST00000288319.7_Silent_p.N336N|ERG_ENST00000398907.1_Silent_p.N313N|ERG_ENST00000398911.1_Silent_p.N319N|ERG_ENST00000453032.2_Silent_p.N244N|ERG_ENST00000398910.1_Silent_p.N320N	p.N319N	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1228	-		Prostate(19;3.6e-06)	343					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.957C>T	CCDS46648.1																																																																																				0.607	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		163	123	0	0	0	1	0	163	123					A	39755757	G	A	39755757	2	1	47	1	0	0	0	0	0	0	0	1	5240	1136	40	1		1	ERG	21	39755757	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	28839284	39755757	8374138	280	5863											
TRPM2	7226	broad.mit.edu	37	chr21	45855046	45855046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacaggactgcgtgggcGcgggagcctcagctgcttcg	16	14	1	0	rs550041022		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:45855046G>A	ENST00000397928.1	+	28	4452	c.4007G>A	c.(4006-4008)cGc>cAc	p.R1336H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000581669.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1336					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R1336H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGCGTGGGCGCGGGAGCCTC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15646	0.0		0.0	False		,,,				2504	0.0					ENST00000397928.1																			1	Substitution - Missense(1)	p.R1336H(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(4006-4008)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							89	82	84					21																	45855046		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45855046G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4007G>A	21.37:g.45855046G>A	ENSP00000381023:p.Arg1336His					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H	p.R1336H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			28	4452	+			1336					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4007G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551389	0.65311	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.79033	-1.23;-1.23;2.42;-1.23	4.86	4.86	0.63082	NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000003	D	0.88526	0.6460	M	0.91459	3.21	0.20074	N	0.999936	D;D;D;D	0.71674	0.998;0.99;0.998;0.966	D;P;P;P	0.63703	0.917;0.72;0.751;0.635	T	0.82448	-0.0452	10	0.87932	D	0	-4.4048	11.4611	0.50211	0.0897:0.0:0.9103:0.0	.	17;1386;1122;1336	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	H	1336;1336;1282;1386;80	ENSP00000300482:R1336H;ENSP00000381023:R1336H;ENSP00000300481:R1282H;ENSP00000381026:R1386H	ENSP00000300481:R1282H	R	+	2	0	TRPM2	44679474	0.850000	0.29656	0.224000	0.23877	0.653000	0.38743	3.901000	0.56303	2.420000	0.82092	0.543000	0.68304	CGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		91	276	0	0	0	1	0	91	276					A	45855046	G	A	45855046	3	1	47	1	0	0	0	0	1	0	0	0	16639	1087	38	1	4117	1	TRPM2	21	45855046	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	6099289	45855046	2274849	281	5864											
COL6A2	1292	broad.mit.edu	37	chr21	47545713	47545713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagggacgcgtgtgggcGtggtgcagtacagccacgag	18	9	0	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:47545713G>A	ENST00000300527.4	+	26	2088	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	COL6A2_ENST00000357838.4_Missense_Mutation_p.V662M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V662M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V662M|COL6A2_ENST00000397763.1_Missense_Mutation_p.V662M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	662	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGTGTGGGCGTGGTGCAGTA	0.647																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1984-1986)Gtg>Atg		collagen, type VI, alpha 2							51	42	45					21																	47545713		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545713G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1984G>A	21.37:g.47545713G>A	ENSP00000300527:p.Val662Met					COL6A2_ENST00000397763.1_Missense_Mutation_p.V662M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V662M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V662M|COL6A2_ENST00000357838.4_Missense_Mutation_p.V662M	p.V662M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2088	+	Breast(49;0.245)		662			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1984G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095283	0.56075	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.060524	0.64402	D	0.000003	D	0.90232	0.6946	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.983	D	0.92198	0.5765	10	0.87932	D	0	-16.5413	16.9942	0.86362	0.0:0.0:1.0:0.0	.	662;662;662	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	662;662;662;662;662;219	ENSP00000300527:V662M;ENSP00000350497:V662M;ENSP00000312529:V662M;ENSP00000387115:V662M;ENSP00000380870:V662M;ENSP00000395751:V219M	ENSP00000300527:V662M	V	+	1	0	COL6A2	46370141	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	5.659000	0.68010	1.998000	0.58463	0.491000	0.48974	GTG		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			41	81	0	0	0	1	0	41	81					A	47545713	G	A	47545713	3	1	47	1	0	0	0	0	1	0	0	0	3709	1145	40	1	2082	1	COL6A2	21	47545713	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1690667	47545713	584182	282	5865											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31884692	31884693	+	Frame_Shift_Ins	INS	-	-	TCTCCTA													ctttctgtttcacccatactINStctcctatccatggctcctt					rs148554829|rs3834682	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:31884692_31884693insTCTCCTA	ENST00000397525.1	-	2	235_236	c.12_13insTAGGAGA	c.(10-15)agaagtfs	p.S5fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S5fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.S5fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S5fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	5						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCCATACTTCTCCTATCCA	0.455																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(10-15)aggtatfs		eukaryotic translation initiation factor 4E nuclear import factor 1																																				SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31884692_31884693insTCTCCTA	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.6_12dupTAGGAGA	22.37:g.31884693_31884699dupTCTCCTA	ENSP00000380659:p.Ser5fs					EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.RY4fs	p.RY4fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			2	235_236	-			4					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Ins	INS	ENST00000397525.1	37	c.12_13insTAGGAGA	CCDS13898.1																																																																																				0.455	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		52	213						52	213	---	---	---	---	TCTCCTA	31884693	-	TCTCCTA	31884692	7	5	47	1	0	1	1	0	0	0	0	0	5053	1609	56	0	3019	0	EIF4ENIF1	22	31884692	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08		31884692	19419874	283	5866											
SSTR3	6753	broad.mit.edu	37	chr22	37603719	37603719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatcagaacgccactgaCggccagccctgccgggcttg	15	14	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:37603719C>T	ENST00000328544.3	-	2	657	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	SSTR3_ENST00000402501.1_Missense_Mutation_p.V42I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	42					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ACGCCACTGACGGCCAGCCCT	0.672																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(124-126)Gtc>Atc		somatostatin receptor 3							51	52	52					22																	37603719		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603719C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.124G>A	22.37:g.37603719C>T	ENSP00000330138:p.Val42Ile					SSTR3_ENST00000402501.1_Missense_Mutation_p.V42I	p.V42I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	657	-			42					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.124G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572305	0.13623	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37235	1.21;1.21	5.61	1.27	0.21489	.	0.437679	0.21686	N	0.070641	T	0.20210	0.0486	L	0.29908	0.895	0.32755	N	0.505859	B	0.19445	0.036	B	0.10450	0.005	T	0.35400	-0.9790	10	0.07325	T	0.83	.	8.8667	0.35291	0.0:0.7176:0.0:0.2824	.	42	P32745	SSR3_HUMAN	I	42	ENSP00000330138:V42I;ENSP00000384904:V42I	ENSP00000330138:V42I	V	-	1	0	SSTR3	35933665	0.000000	0.05858	0.189000	0.23252	0.023000	0.10783	-0.311000	0.08124	0.073000	0.16731	0.557000	0.71058	GTC		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			23	255	0	0	0	1	0	23	255					T	37603719	C	T	37603719	3	4	47	1	0	0	0	0	1	0	0	0	15251	536	19	1	1136	1	SSTR3	22	37603719	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	5719027	37603719	13700847	284	5867											
TCF20	6942	broad.mit.edu	37	chr22	42605760	42605760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcatggacccaaaatTcattgctgtcaagaggtagt	8	10	3	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:42605760T>C	ENST00000359486.3	-	1	5688	c.5552A>G	c.(5551-5553)gAa>gGa	p.E1851G	TCF20_ENST00000404876.1_Missense_Mutation_p.E152G|TCF20_ENST00000335626.4_Missense_Mutation_p.E1851G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1851					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GACCCAAAATTCATTGCTGTC	0.517																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5551-5553)gAa>gGa		transcription factor 20 (AR1)							148	150	150					22																	42605760		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605760T>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5552A>G	22.37:g.42605760T>C	ENSP00000352463:p.Glu1851Gly					TCF20_ENST00000335626.4_Missense_Mutation_p.E1851G|TCF20_ENST00000404876.1_Missense_Mutation_p.E152G	p.E1851G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5688	-			1851					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5552A>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966167	0.74131	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.71103	-0.02;-0.06;-0.54	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.86409	0.1747	10	0.87932	D	0	-20.7853	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1851;1851	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	G	1851;1851;152	ENSP00000352463:E1851G;ENSP00000335561:E1851G;ENSP00000385531:E152G	ENSP00000335561:E1851G	E	-	2	0	TCF20	40935704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	GAA		0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		155	728	0	0	0	1	0	155	728					C	42605760	T	C	42605760	3	2	47	1	0	0	0	0	1	0	0	0	15742	1783	62	4	368	4	TCF20	22	42605760	Missense_Mutation	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	5002041	42605760	8698806	285	5868											
SHOX	6473	broad.mit.edu	37	chrX	591887	591887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagaaactgaaagaattCggcaccgcgagagtggcaga	14	7	0	5			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:591887C>T	ENST00000554971.1	+	1	346	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SHOX_ENST00000334060.3_Silent_p.F85F|SHOX_ENST00000381575.1_Silent_p.F85F|SHOX_ENST00000381578.1_Silent_p.F85F			O15266	SHOX_HUMAN	short stature homeobox	85					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAAGAATTCGGCACCGCGA	0.642																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(253-255)ttC>ttT		short stature homeobox							61	72	68					X																	591887		2203	4296	6499	SO:0001819	synonymous_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591887C>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.255C>T	X.37:g.591887C>T						SHOX_ENST00000334060.3_Silent_p.F85F|SHOX_ENST00000554971.1_Silent_p.F85F|SHOX_ENST00000381575.1_Silent_p.F85F	p.F85F	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	946	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	85					O00412|O00413|O15267	Silent	SNP	ENST00000554971.1	37	c.255C>T	CCDS14107.1																																																																																				0.642	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		11	354	0	0	0	1	0	11	354					T	591887	C	T	591887	2	4	47	1	0	0	0	0	0	0	0	1	14338	883	31	1		1	SHOX	23	591887	Silent	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08		591887	154678673	286	5869											
ZBED1	9189	broad.mit.edu	37	chrX	2408374	2408374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagatgaggcccagcacGgcggccgtcagctcctgctg	14	15	1	2			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:2408374G>A	ENST00000381223.4	-	2	590	c.387C>T	c.(385-387)gcC>gcT	p.A129A	ZBED1_ENST00000381222.2_Silent_p.A129A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.A129A|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	129					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCAGCACGGCGGCCGTCA	0.687																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(385-387)gcC>gcT		zinc finger, BED-type containing 1							43	46	45					X																	2408374		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408374G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.387C>T	X.37:g.2408374G>A						ZBED1_ENST00000381218.3_Silent_p.A129A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.A129A	p.A129A	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	590	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	129					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.387C>T	CCDS14118.1																																																																																				0.687	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		5	172	0	0	0	1	0	5	172					A	2408374	G	A	2408374	2	1	47	1	0	0	0	0	0	0	0	1	17571	1103	39	1		1	ZBED1	23	2408374	Silent	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	1816487	2408374	152862186	287	5870											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			10	33						10	33	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	47	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-FB-AAPP-01A-12D-A40W-08	48830922	51239296	104031264	288	5871											
EDA2R	60401	broad.mit.edu	37	chrX	65824331	65824331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgcaggcctccaatgCgtgtctttcggtagaacctg	12	12	1	1	rs192316556		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:65824331C>T	ENST00000374719.3	-	4	340	c.284G>A	c.(283-285)cGc>cAc	p.R95H	EDA2R_ENST00000450752.1_Missense_Mutation_p.R95H|EDA2R_ENST00000456230.2_Missense_Mutation_p.R95H|EDA2R_ENST00000396050.1_Missense_Mutation_p.R95H|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Missense_Mutation_p.R95H	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	95					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCTCCAATGCGTGTCTTTCG	0.522													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15546	0.0		0.0	False		,,,				2504	0.0					ENST00000374719.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(283-285)cGc>cAc		ectodysplasin A2 receptor							225	151	176					X																	65824331		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824331C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.284G>A	X.37:g.65824331C>T	ENSP00000363851:p.Arg95His					EDA2R_ENST00000450752.1_Missense_Mutation_p.R95H|EDA2R_ENST00000456230.2_Missense_Mutation_p.R95H|EDA2R_ENST00000253392.5_Missense_Mutation_p.R95H|EDA2R_ENST00000396050.1_Missense_Mutation_p.R95H|EDA2R_ENST00000451436.2_Intron	p.R95H	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN			4	340	-			95					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.284G>A	CCDS14386.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.95	3.731684	0.69189	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.0	4.0	0.46444	.	0.138350	0.31989	U	0.006757	T	0.37348	0.1000	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66196	0.942;0.765;0.684	T	0.18713	-1.0328	10	0.72032	D	0.01	-1.3296	12.8844	0.58034	0.0:1.0:0.0:0.0	.	95;95;95	Q9HAV5-2;B2RBZ9;Q9HAV5	.;.;TNR27_HUMAN	H	95	ENSP00000363851:R95H;ENSP00000379365:R95H;ENSP00000253392:R95H;ENSP00000393935:R95H;ENSP00000402929:R95H	ENSP00000253392:R95H	R	-	2	0	EDA2R	65741056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.295000	0.43576	1.584000	0.49913	0.600000	0.82982	CGC		0.522	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		172	17	0	0	0	1	0	172	17					T	65824331	C	T	65824331	3	4	47	1	0	0	0	0	1	0	0	0	4920	768	27	1	621	1	EDA2R	23	65824331	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	14585035	65824331	89446229	289	5872											
CYLC1	1538	broad.mit.edu	37	chrX	83128600	83128600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaatgcaaagaaaaGctctgatgctgaatctgaag	9	5	2	5	rs377756954		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:83128600G>T	ENST00000329312.4	+	4	921	c.884G>T	c.(883-885)aGc>aTc	p.S295I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAAAGAAAAGCTCTGATGCT	0.308																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(883-885)aGc>aTc		cylicin, basic protein of sperm head cytoskeleton 1							33	32	32					X																	83128600		2188	4283	6471	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128600G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.884G>T	X.37:g.83128600G>T	ENSP00000331556:p.Ser295Ile						p.S295I	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	921	+			295					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.884G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	4.628	0.116752	0.08881	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.29397	1.57	4.7	-0.522	0.11928	.	.	.	.	.	T	0.24353	0.0590	L	0.58810	1.83	0.09310	N	1	P;P	0.42518	0.782;0.615	B;B	0.40444	0.329;0.329	T	0.21008	-1.0258	9	0.56958	D	0.05	7.466	0.5755	0.00702	0.3742:0.1839:0.2691:0.1728	.	295;295	P35663;F5H4V5	CYLC1_HUMAN;.	I	295	ENSP00000331556:S295I	ENSP00000331556:S295I	S	+	2	0	CYLC1	83015256	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.519000	0.06260	-0.125000	0.11703	0.600000	0.82982	AGC		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		95	38	1	0	1.49228e-48	1	1.62755e-48	95	38					T	83128600	G	T	83128600	3	4	47	1	0	0	0	0	1	0	0	0	4152	971	34	3	898	3	CYLC1	23	83128600	Missense_Mutation	SNP	G	TCGA-FB-AAPP-01A-12D-A40W-08	17304269	83128600	72141960	290	5873											
PABPC5	140886	broad.mit.edu	37	chrX	90691366	90691366	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagacttgcatggaaagtccAtcgatggaaaagtcctctat	9	8	1	1			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:90691366A>T	ENST00000312600.3	+	2	1004	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	PABPC5_ENST00000373105.1_Missense_Mutation_p.I100F|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	264	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGAAAGTCCATCGATGGAAA	0.458																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(790-792)Atc>Ttc		poly(A) binding protein, cytoplasmic 5							65	65	65					X																	90691366		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691366A>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.790A>T	X.37:g.90691366A>T	ENSP00000308012:p.Ile264Phe					PABPC5_ENST00000373105.1_Missense_Mutation_p.I100F	p.I264F	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1004	+			264			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.790A>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.663909	0.00772	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.16597	2.33;2.33	4.29	0.672	0.17935	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.119665	0.56097	D	0.000022	T	0.07503	0.0189	N	0.11789	0.175	0.40850	D	0.983745	B	0.33637	0.42	B	0.37198	0.243	T	0.31558	-0.9939	10	0.07030	T	0.85	.	7.1546	0.25630	0.7157:0.0:0.2843:0.0	.	264	Q96DU9	PABP5_HUMAN	F	100;264;232	ENSP00000362197:I100F;ENSP00000308012:I264F	ENSP00000308012:I264F	I	+	1	0	PABPC5	90578022	0.018000	0.18449	0.474000	0.27266	0.328000	0.28507	0.365000	0.20348	0.006000	0.14734	-0.460000	0.05396	ATC		0.458	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		52	117	0	0	0	1	0	52	117					T	90691366	A	T	90691366	3	4	47	1	0	0	0	0	1	0	0	0	11409	217	8	5	792	5	PABPC5	23	90691366	Missense_Mutation	SNP	A	TCGA-FB-AAPP-01A-12D-A40W-08	7562766	90691366	64579194	291	5874											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		8	557						8	557	---	---	---	---	-	100880154	TGA	-	100880152	7	5	47	1	0	1	0	1	0	0	0	0	962	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-FB-AAPP-01A-12D-A40W-08	10188786	100880152	54390408	292	5875											
COL4A5	1287	broad.mit.edu	37	chrX	107869450	107869450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaacagggcctcagggTgtggaagggcctcctggacc	14	11	2	0			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:107869450T>C	ENST00000361603.2	+	36	3361	c.3117T>C	c.(3115-3117)ggT>ggC	p.G1039G	COL4A5_ENST00000328300.6_Silent_p.G1039G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1039	Triple-helical region.		G -> S (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCTCAGGGTGTGGAAGGGC	0.418									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3115-3117)ggT>ggC		collagen, type IV, alpha 5							67	62	64					X																	107869450		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869450T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3117T>C	X.37:g.107869450T>C						COL4A5_ENST00000361603.2_Silent_p.G1039G	p.G1039G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			36	3361	+			1039		G -> S (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.3117T>C	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605181	0.14002	.	.	ENSG00000188153	ENST00000505728	.	.	.	5.76	3.17	0.36434	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	4	.	.	.	.	3.762	0.08607	0.1154:0.0738:0.2185:0.5922	.	.	.	.	A	117	.	.	V	+	2	0	COL4A5	107756106	0.659000	0.27411	0.885000	0.34714	0.840000	0.47671	0.872000	0.28037	1.928000	0.55862	0.486000	0.48141	GTG		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			9	191	0	0	0	1	0	9	191					C	107869450	T	C	107869450	2	2	47	1	0	0	0	0	0	0	0	1	3703	1683	59	4		4	COL4A5	23	107869450	Silent	SNP	T	TCGA-FB-AAPP-01A-12D-A40W-08	6989298	107869450	47401110	293	5876											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	765						9	765	---	---	---	---	-	140994641	CTC	-	140994639	7	5	47	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-FB-AAPP-01A-12D-A40W-08	33125189	140994639	14275921	294	5877											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	159						10	159	---	---	---	---	-	149639327	CAG	-	149639325	7	5	47	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-FB-AAPP-01A-12D-A40W-08	8644686	149639325	5631235	295	5878											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	226						9	226	---	---	---	---	-	149639635	GCA	-	149639633	7	5	47	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-FB-AAPP-01A-12D-A40W-08	308	149639633	5630927	296	5879											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	379						7	379	---	---	---	---	-	150817144	GCT	-	150817142	7	5	47	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-FB-AAPP-01A-12D-A40W-08	1177509	150817142	4453418	297	5880											
GABRE	2564	broad.mit.edu	37	chrX	151130916	151130916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattgtgtacaacaccttgCcatccttgtagatgcggacc	8	11	0	1	rs75100154		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:151130916C>T	ENST00000370328.3	-	4	595	c.542G>A	c.(541-543)gGc>gAc	p.G181D	GABRE_ENST00000370325.1_Missense_Mutation_p.G181D|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Missense_Mutation_p.A16T	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	181					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACACCTTGCCATCCTTGTA	0.478																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(541-543)gGc>gAc		gamma-aminobutyric acid (GABA) A receptor, epsilon							125	89	102					X																	151130916		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151130916C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.542G>A	X.37:g.151130916C>T	ENSP00000359353:p.Gly181Asp					GABRE_ENST00000370328.3_Missense_Mutation_p.G181D|GABRE_ENST00000393914.3_Missense_Mutation_p.A16T	p.G181D			P78334	GBRE_HUMAN			4	595	-	Acute lymphoblastic leukemia(192;6.56e-05)		181					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.542G>A	CCDS14703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.603111|4.603111	0.87157|0.87157	.|.	.|.	ENSG00000102287|ENSG00000102287	ENST00000393914|ENST00000370328;ENST00000370325	.|D;D	.|0.97378	.|-4.36;-4.36	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.51477	.|D	.|0.000081	D|D	0.98817|0.98817	0.9601|0.9601	M|M	0.93328|0.93328	3.405|3.405	0.33060|0.33060	D|D	0.534013|0.534013	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99964|0.99964	1.1813|1.1813	6|10	0.49607|0.87932	T|D	0.09|0	.|.	15.663|15.663	0.77203|0.77203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|P78334	.|GBRE_HUMAN	T|D	16|181	.|ENSP00000359353:G181D;ENSP00000359350:G181D	ENSP00000377491:A16T|ENSP00000359350:G181D	A|G	-|-	1|2	0|0	GABRE|GABRE	150881572|150881572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.818000|7.818000	0.86416|0.86416	2.295000|2.295000	0.77249|0.77249	0.529000|0.529000	0.55759|0.55759	GCA|GGC		0.478	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		5	142	0	0	0	1	0	5	142					T	151130916	C	T	151130916	3	4	47	1	0	0	0	0	1	0	0	0	6197	739	26	2	1002	2	GABRE	23	151130916	Missense_Mutation	SNP	C	TCGA-FB-AAPP-01A-12D-A40W-08	313774	151130916	4139644	298	5881											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctcttccttgccgtINSggggggggccctgggcaaca					rs375310385		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	268						7	268	---	---	---	---	G	153688565	-	G	153688564	7	5	47	1	0	1	1	0	0	0	0	0	12163	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-FB-AAPP-01A-12D-A40W-08	2557648	153688564	1581996	299	5882											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	137	0	0	0	1	0	4	137					G	21806573	A	G	21806573	3	3	48	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08		21806573	227444048	1	5883			1	7		2	2	34	N	T_A	9.486986e-05
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	8	8	2	2	rs201055589		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63	41	49					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	56	0	0	0	1	0	3	56					G	21806606	T	G	21806606	3	3	48	1	0	0	0	0	1	0	0	0	10239	1841	64	4	1309	4	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	33	21806606	227444015	2	5884			1	7		2	2	34	N	T_A	9.486986e-05
ADAM30	11085	broad.mit.edu	37	chr1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-													agtatggattgcccggttacTttttttgtttcttgacactc							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:120436591delT	ENST00000369400.1	-	1	2527	c.2369delA	c.(2368-2370)aagfs	p.K790fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	790					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2368-2370)agfs		ADAM metallopeptidase domain 30							256	265	262					1																	120436591		2203	4300	6503	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436591delT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2369delA	1.37:g.120436591delT	ENSP00000358407:p.Lys790fs						p.K790fs	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2527	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	790					A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.2369delA	CCDS907.1																																																																																				0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		7	1186						7	1186	---	---	---	---	-	120436591	T	-	120436591	7	5	48	1	0	1	0	1	0	0	0	0	248	1609	56	0	7	0	ADAM30	1	120436591	Frame_Shift_Del	DEL	T	TCGA-FB-AAPQ-01A-11D-A40W-08	98629985	120436591	128814030	3	5885											
TCHH	7062	broad.mit.edu	37	chr1	152082606	152082606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcagctgctcttcTtcctgctgcagctcgtcttt	7	15	5	0	rs201965717		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				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						c.(3085-3087)gaA>gaG		trichohyalin							111	113	112					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>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.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	944	0	0	0	1	0	8	944					C	152082606	T	C	152082606	2	2	48	1	0	0	0	0	0	0	0	1	15752	1606	56	4		4	TCHH	1	152082606	Silent	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	31646015	152082606	97168015	4	5886											
HRNR	388697	broad.mit.edu	37	chr1	152191773	152191773	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actggacccatgtcggacacGgctaggagagtggccagatc	14	11	0	2	rs372266640		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152191773G>C	ENST00000368801.2	-	3	2407	c.2332C>G	c.(2332-2334)Cgt>Ggt	p.R778G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	778					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACACGGCTAGGAGAG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2332-2334)Cgt>Ggt		hornerin							75	78	77					1																	152191773		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191773G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2332C>G	1.37:g.152191773G>C	ENSP00000357791:p.Arg778Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R778G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2407	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		778					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2332C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.505	0.278141	0.10403	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	3.06	0.0247	0.14143	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	B	0.27013	0.166	B	0.17722	0.019	T	0.47182	-0.9137	9	0.14252	T	0.57	.	5.1534	0.15021	0.627:0.0:0.373:0.0	.	778	Q86YZ3	HORN_HUMAN	G	778	ENSP00000357791:R778G	ENSP00000357791:R778G	R	-	1	0	HRNR	150458397	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.096000	0.03353	-0.095000	0.12351	0.508000	0.49915	CGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	423	0	0	0	1	0	7	423					C	152191773	G	C	152191773	3	2	48	1	0	0	0	0	1	0	0	0	7389	1116	39	5	6224	5	HRNR	1	152191773	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	109167	152191773	97058848	5	5887											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260	258	259					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	1353	0	0	0	1	0	8	1353					A	152382749	G	A	152382749	3	1	48	1	0	0	0	0	1	0	0	0	3901	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	190976	152382749	96867872	6	5888											
FCRL1	115350	broad.mit.edu	37	chr1	157769869	157769869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtggatccctggctgaaCgtcttcctgaaagaaaaaca	10	9	1	4			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:157769869C>T	ENST00000368176.3	-	7	1077	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	FCRL1_ENST00000358292.3_Missense_Mutation_p.R298H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			CCTGGCTGAACGTCTTCCTGA	0.408																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(892-894)cGt>cAt		Fc receptor-like 1							100	90	93					1																	157769869		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157769869C>T	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.1010G>A	1.37:g.157769869C>T	ENSP00000357158:p.Arg337His					FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R337H	p.R298H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	944	-	all_hematologic(112;0.0378)		337					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.893G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436657	0.25900	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.46451	0.87;1.06;1.09	5.03	-0.412	0.12367	.	1.215290	0.05705	N	0.594801	T	0.11623	0.0283	L	0.45581	1.43	0.09310	N	1	B;B;B	0.33739	0.105;0.422;0.064	B;B;B	0.25506	0.027;0.061;0.012	T	0.22068	-1.0227	10	0.45353	T	0.12	.	0.9423	0.01358	0.162:0.4013:0.1578:0.279	.	298;337;337	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	H	298;337;337	ENSP00000351039:R298H;ENSP00000357158:R337H;ENSP00000418130:R337H	ENSP00000351039:R298H	R	-	2	0	FCRL1	156036493	0.001000	0.12720	0.029000	0.17559	0.036000	0.12997	-0.669000	0.05262	-0.134000	0.11516	-0.136000	0.14681	CGT		0.408	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	396	0	0	0	1	0	8	396					T	157769869	C	T	157769869	3	4	48	1	0	0	0	0	1	0	0	0	5819	536	19	1	365	1	FCRL1	1	157769869	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	5387120	157769869	91480752	7	5889											
SPTA1	6708	broad.mit.edu	37	chr1	158653248	158653248	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagtcttgattttgtttgCacctctgcttcaagggattg	10	7	3	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:158653248C>A	ENST00000368147.4	-	3	483	c.303G>T	c.(301-303)gtG>gtT	p.V101V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	101					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)			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)					ATTTTGTTTGCACCTCTGCTT	0.398																																						ENST00000368148.3																			0				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						c.(301-303)gtG>gtT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							226	200	208					1																	158653248		1856	4106	5962	SO:0001819	synonymous_variant	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.chr1:158653248C>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.303G>T	1.37:g.158653248C>A						SPTA1_ENST00000368147.3_Silent_p.V101V	p.V101V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			3	483	-	all_hematologic(112;0.0378)		101					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.303G>T	CCDS41423.1																																																																																				0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	680	1	0	0.0215528	1	0.0217112	6	680					A	158653248	C	A	158653248	2	1	48	1	0	0	0	0	0	0	0	1	15168	697	25	3		3	SPTA1	1	158653248	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	883379	158653248	90597373	8	5890											
PVRL4	81607	broad.mit.edu	37	chr1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-													caagagtgcggcgatcacacCcaccaccaccaccgaggctg							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)gtgggt>ggt	p.V353del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V87del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1057-1062)ggt>g		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044104_161044106delCCA	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1058_1060delTGG	1.37:g.161044113_161044115delCCA	ENSP00000356991:p.Val353del					PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	p.VG353del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1360_1362	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		353					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1058_1060delTGG	CCDS1216.1																																																																																				0.606	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		7	904						7	904	---	---	---	---	-	161044106	CCA	-	161044104	7	5	48	1	0	1	0	1	0	0	0	0	12892	623	22	0	488	0	PVRL4	1	161044104	In_Frame_Del	DEL	CCA	TCGA-FB-AAPQ-01A-11D-A40W-08	2390856	161044104	88206517	9	5891											
DEDD	9191	broad.mit.edu	37	chr1	161092295	161092295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctggcagtattcagccCgaacccgcagtctgatgtct	10	13	3	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161092295C>T	ENST00000368006.3	-	6	813	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000490843.2_Missense_Mutation_p.R200Q|DEDD_ENST00000392188.1_Missense_Mutation_p.R230Q|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q|NIT1_ENST00000368008.1_Intron	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	200					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.R200L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTATTCAGCCCGAACCCGCAG	0.493																																						ENST00000392188.1																			1	Substitution - Missense(1)	p.R200L(1)	lung(1)	cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(688-690)cGg>cAg		death effector domain containing							77	83	81					1																	161092295		2203	4300	6503	SO:0001583	missense	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161092295C>T	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.599G>A	1.37:g.161092295C>T	ENSP00000356985:p.Arg200Gln					NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R200Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q	p.R230Q			O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	923	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		200					D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.689G>A	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662293	0.88251	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.80764	0.694;0.994;0.982	T	0.74386	-0.3682	9	0.59425	D	0.04	.	15.9207	0.79570	0.0:1.0:0.0:0.0	.	157;230;200	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	Q	200;230;200;200;200;230;157	.	ENSP00000356984:R230Q	R	-	2	0	DEDD	159358919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.620000	0.88729	0.655000	0.94253	CGG		0.493	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		56	511	0	0	0	1	0	56	511					T	161092295	C	T	161092295	3	4	48	1	0	0	0	0	1	0	0	0	4395	652	23	1	361	1	DEDD	1	161092295	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	48191	161092295	88158326	10	5892											
FCER1G	2207	broad.mit.edu	37	chr1	161187859	161187859	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcaccctcctctactgtCgactgaaggtagcgctgggc	10	15	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161187859C>T	ENST00000289902.1	+	2	158	c.133C>T	c.(133-135)Cga>Tga	p.R45*	AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*|FCER1G_ENST00000490414.1_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	45					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 II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCTCTACTGTCGACTGAAGGT	0.562																																						ENST00000289902.1																			0				endometrium(1)|lung(5)	6						c.(133-135)Cga>Tga		Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	Benzylpenicilloyl Polylysine(DB00895)						145	133	137					1																	161187859		2203	4300	6503	SO:0001587	stop_gained	2207				platelet activation	integral to plasma membrane		g.chr1:161187859C>T		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.133C>T	1.37:g.161187859C>T	ENSP00000289902:p.Arg45*					FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*	p.R45*	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	158	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		45					Q5VTW4	Nonsense_Mutation	SNP	ENST00000289902.1	37	c.133C>T	CCDS1225.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797467	0.90538	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	.	.	.	5.67	4.73	0.59995	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7665	0.51933	0.1759:0.8241:0.0:0.0	.	.	.	.	X	45	.	ENSP00000289902:R45X	R	+	1	2	FCER1G	159454483	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	1.508000	0.35769	1.348000	0.45733	0.561000	0.74099	CGA		0.562	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		117	792	0	0	0	1	0	117	792					T	161187859	C	T	161187859	4	4	48	1	0	0	0	0	0	1	0	0	5800	876	31	1	139	1	FCER1G	1	161187859	Nonsense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	95564	161187859	88062762	11	5893											
DUSP27	92235	broad.mit.edu	37	chr1	167064080	167064088	+	Start_Codon_Del	DEL	GGTTGTCAT	GGTTGTCAT	-													caaactttcagaggttggcaGgttgtcatggcgaccagaaa					rs201615244|rs200330749		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:167064080_167064088delGGTTGTCAT	ENST00000361200.2	+	0	160_168				DUSP27_ENST00000271385.5_Start_Codon_Del|DUSP27_ENST00000443333.1_Start_Codon_Del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)						protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GAGGTTGGCAGGTTGTCATGGCGACCAGA	0.555																																						ENST00000361200.2																			0				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								dual specificity phosphatase 27 (putative)																																				SO:0001582	initiator_codon_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167064080_167064088delGGTTGTCAT	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		1.37:g.167064080_167064088delGGTTGTCAT						DUSP27_ENST00000443333.1_Start_Codon_Del|DUSP27_ENST00000271385.5_Start_Codon_Del				Q5VZP5	DUS27_HUMAN			0	160_168	+								A0AUM4|Q9C074	Translation_Start_Site	DEL	ENST00000361200.2	37		CCDS30932.1																																																																																				0.555	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		14	68						14	68	---	---	---	---	-	167064088	GGTTGTCAT	-	167064080	7	5	48	1	0	1	0	1	0	0	0	0	4840	1015	35	0		0	DUSP27	1	167064080	Start_Codon_Del	DEL	GGTTGTCAT	TCGA-FB-AAPQ-01A-11D-A40W-08	5876221	167064080	82186541	12	5894											
SCYL3	57147	broad.mit.edu	37	chr1	169833511	169833511	+	Splice_Site	DEL	T	T	-													actttgaaaaagcattcaccTtttttggggccaagcagata							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92	94	94					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	9	973						9	973	---	---	---	---	-	169833511	T	-	169833511	8	5	48	1	0	1	0	1	0	0	1	0	13999	1623	56	0	1298	0	SCYL3	1	169833511	Splice_Site	DEL	T	TCGA-FB-AAPQ-01A-11D-A40W-08	2769431	169833511	79417110	13	5895											
CFHR5	81494	broad.mit.edu	37	chr1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacatgcacagaagaag	7	9	1	2	rs375843181		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000367414.5																			1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(277-279)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117	105	109		206	-4.1	0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	1.37:g.196952162G>A	ENSP00000256785:p.Arg69His					CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	p.R93H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	334	+			69			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.278G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	CFHR5	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC		0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		5	402	0	0	0	1	0	5	402					A	196952162	G	A	196952162	3	1	48	1	0	0	0	0	1	0	0	0	3297	1087	38	1	212	1	CFHR5	1	196952162	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	27118651	196952162	52298459	14	5896											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312363	205312363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccccacttgcctttggCcgtgacagaaatgcccatgg	11	14	0	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:205312363C>T	ENST00000367156.3	-	5	1186	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A124T|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A124T|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	124										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGCCTTTGGCCGTGACAGAA	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(370-372)Gcc>Acc		kelch domain containing 8A							63	63	63					1																	205312363		2198	4286	6484	SO:0001583	missense	55220							g.chr1:205312363C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.370G>A	1.37:g.205312363C>T	ENSP00000356124:p.Ala124Thr					KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A124T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A124T	p.A124T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	1186	-	Breast(84;0.23)		124					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.370G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340113	0.41398	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.73789	-0.78;-0.78;-0.78	5.65	4.55	0.56014	Kelch-type beta propeller (1);	0.248571	0.40728	N	0.001026	T	0.63426	0.2510	L	0.38175	1.15	0.40190	D	0.977394	B	0.02656	0.0	B	0.01281	0.0	T	0.58148	-0.7687	10	0.14252	T	0.57	-28.5788	15.1784	0.72934	0.0:0.9199:0.0:0.0801	.	124	Q8IYD2	KLD8A_HUMAN	T	124	ENSP00000356123:A124T;ENSP00000356124:A124T;ENSP00000442229:A124T	ENSP00000356123:A124T	A	-	1	0	KLHDC8A	203578986	0.996000	0.38824	0.991000	0.47740	0.992000	0.81027	3.918000	0.56432	2.646000	0.89796	0.655000	0.94253	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		6	496	0	0	0	1	0	6	496					T	205312363	C	T	205312363	3	4	48	1	0	0	0	0	1	0	0	0	8392	739	26	2	702	2	KLHDC8A	1	205312363	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	8360201	205312363	43938258	15	5897											
PROX1	5629	broad.mit.edu	37	chr1	214171246	214171246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgcctccggccctgcCgctggcggccaccaccagcc	11	21	1	0	rs530123487		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214171246C>T	ENST00000366958.4	+	2	1976	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A|PROX1_ENST00000261454.4_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15771	0.0		0.0	False		,,,				2504	0.0					ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1366-1368)gcC>gcT		prospero homeobox 1							60	73	68					1																	214171246		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171246C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1368C>T	1.37:g.214171246C>T						PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1976	+			456	PAA -> LV (in Ref. 1; AAC50656).				A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1368C>T	CCDS31021.1																																																																																				0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		5	431	0	0	0	1	0	5	431					T	214171246	C	T	214171246	2	4	48	1	0	0	0	0	0	0	0	1	12607	639	23	1		1	PROX1	1	214171246	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	8858883	214171246	35079375	16	5898											
KIAA1804	84451	broad.mit.edu	37	chr1	233497954	233497954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atattccagctaaaccaggaGaagcccaaggtaaagaagag	10	8	0	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:233497954G>T	ENST00000366624.3	+	5	1728	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	MLK4_ENST00000366623.3_Missense_Mutation_p.E489D	NM_032435.2	NP_115811.2																					TAAACCAGGAGAAGCCCAAGG	0.478																																						ENST00000366624.3																			0											c.(1465-1467)gaG>gaT									76	74	75					1																	233497954		2203	4300	6503	SO:0001583	missense	0							g.chr1:233497954G>T																												ENST00000366624.3:c.1467G>T	1.37:g.233497954G>T	ENSP00000355583:p.Glu489Asp					MLK4_ENST00000366623.3_Missense_Mutation_p.E489D	p.E489D	NM_032435.2	NP_115811.2					5	1728	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1467G>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127586	0.37533	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.16324	2.35;2.35	4.82	1.88	0.25563	.	0.064059	0.64402	D	0.000007	T	0.12774	0.0310	L	0.47716	1.5	0.80722	D	1	B;B	0.14012	0.009;0.003	B;B	0.19666	0.026;0.017	T	0.11251	-1.0595	10	0.36615	T	0.2	.	3.9006	0.09159	0.1469:0.129:0.5911:0.1331	.	489;489	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	489	ENSP00000355582:E489D;ENSP00000355583:E489D	ENSP00000355582:E489D	E	+	3	2	RP5-862P8.2	231564577	1.000000	0.71417	0.968000	0.41197	0.929000	0.56500	1.633000	0.37113	0.222000	0.20900	0.655000	0.94253	GAG		0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			9	290	1	0	1.12685e-05	1	1.19673e-05	9	290					T	233497954	G	T	233497954	3	4	48	1	0	0	0	0	1	0	0	0	8289	933	33	3	1485	3	KIAA1804	1	233497954	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	19326708	233497954	15752667	17	5899											
CHML	1122	broad.mit.edu	37	chr1	241798099	241798099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttttagtttttaagtattCtgaaaatgaacactgcctga	6	5	1	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:241798099C>T	ENST00000366553.1	-	1	1133	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	324					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTAAGTATTCTGAAAATGAA	0.343																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(970-972)Gaa>Aaa		choroideremia-like (Rab escort protein 2)							110	113	112					1																	241798099		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798099C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.970G>A	1.37:g.241798099C>T	ENSP00000355511:p.Glu324Lys					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.E324K	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1133	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	324					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.970G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363993	0.61513	.	.	ENSG00000203668	ENST00000366553	T	0.61510	0.1	4.96	4.96	0.65561	.	0.286583	0.37012	N	0.002299	T	0.63873	0.2548	.	.	.	0.48288	D	0.999624	P	0.35923	0.528	P	0.45099	0.469	T	0.66862	-0.5816	9	0.66056	D	0.02	-7.2311	16.126	0.81395	0.0:1.0:0.0:0.0	.	324	P26374	RAE2_HUMAN	K	324	ENSP00000355511:E324K	ENSP00000355511:E324K	E	-	1	0	CHML	239864722	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.515000	0.53429	2.752000	0.94435	0.655000	0.94253	GAA		0.343	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		15	380	0	0	0	1	0	15	380					T	241798099	C	T	241798099	3	4	48	1	0	0	0	0	1	0	0	0	3360	922	32	2	1004	2	CHML	1	241798099	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	8300145	241798099	7452522	18	5900											
SNTG2	54221	broad.mit.edu	37	chr2	1243542	1243542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaatgctgctctccttcCgaccaggtagggtttgtatt	9	10	1	0	rs375891281		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:1243542C>T	ENST00000308624.5	+	11	1011	c.882C>T	c.(880-882)tcC>tcT	p.S294S	SNTG2_ENST00000407292.1_Silent_p.S167S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	294					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCTCCTTCCGACCAGGTAG	0.473																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(880-882)tcC>tcT		syntrophin, gamma 2		C		0,4178		0,0,2089	170	161	164		882	-2.3	0.5	2		164	1,8449		0,1,4224	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6313	TT,TC,CC		0.0118,0.0,0.0079		294/540	1243542	1,12627	2089	4225	6314	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1243542C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.882C>T	2.37:g.1243542C>T						SNTG2_ENST00000407292.1_Silent_p.S167S	p.S294S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	11	1011	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	294					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.882C>T	CCDS46220.1																																																																																				0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		27	43	0	0	0	1	0	27	43					T	1243542	C	T	1243542	2	4	48	1	0	0	0	0	0	0	0	1	14925	639	23	1		1	SNTG2	2	1243542	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08		1243542	241955831	19	5901											
PROKR1	10887	broad.mit.edu	37	chr2	68882679	68882679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattgggatgcctgccaccGaagaggtggactgcatcaga	13	10	1	2	rs139618486		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:68882679G>A	ENST00000303786.3	+	3	1573	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	385					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGCCACCGAAGAGGTGGA	0.488																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1153-1155)Gaa>Aaa		prokineticin receptor 1		G	LYS/GLU	0,4406		0,0,2203	53	53	53		1153	4.5	1	2	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR1	NM_138964.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	385/394	68882679	1,13005	2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882679G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1153G>A	2.37:g.68882679G>A	ENSP00000303775:p.Glu385Lys					PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K	p.E385K			Q8TCW9	PKR1_HUMAN			3	1573	+			385					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.1153G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734748	0.69189	0.0	1.16E-4	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72835	-0.69;-0.69	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.68765	0.96	T	0.72972	-0.4129	10	0.18276	T	0.48	.	15.4772	0.75493	0.0:0.0:1.0:0.0	.	385	Q8TCW9	PKR1_HUMAN	K	385	ENSP00000303775:E385K;ENSP00000377874:E385K	ENSP00000303775:E385K	E	+	1	0	PROKR1	68736183	1.000000	0.71417	0.963000	0.40424	0.364000	0.29643	8.626000	0.90969	2.779000	0.95612	0.655000	0.94253	GAA		0.488	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			54	126	0	0	0	1	0	54	126					A	68882679	G	A	68882679	3	1	48	1	0	0	0	0	1	0	0	0	12599	1059	37	1	1159	1	PROKR1	2	68882679	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	67639137	68882679	174316694	20	5902											
REV1	51455	broad.mit.edu	37	chr2	100027216	100027216	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttctacaggagccccAggctttcgtaccatgatttt	9	11	1	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:100027216A>C	ENST00000258428.3	-	14	2514	c.2286T>G	c.(2284-2286)ccT>ccG	p.P762P	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.P761P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	762					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGAGCCCCAGGCTTTCGTA	0.398								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2284-2286)ccT>ccG	Direct reversal of damage	REV1, polymerase (DNA directed)							123	116	119					2																	100027216		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100027216A>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2286T>G	2.37:g.100027216A>C						REV1_ENST00000393445.3_Silent_p.P761P|REV1_ENST00000465835.1_5'UTR	p.P762P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			14	2514	-			762					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.2286T>G	CCDS2045.1																																																																																				0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		100	401	0	0	0	1	0	100	401					C	100027216	A	C	100027216	2	2	48	1	0	0	0	0	0	0	0	1	13289	175	7	4		4	REV1	2	100027216	Silent	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	31144537	100027216	143172157	21	5903											
IL18RAP	8807	broad.mit.edu	37	chr2	103068312	103068312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgtcaatggacccagtAtctttgaactacaagcagca	7	10	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:103068312A>G	ENST00000264260.2	+	12	2060	c.1471A>G	c.(1471-1473)Atc>Gtc	p.I491V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGACCCAGTATCTTTGAACT	0.383																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1471-1473)Atc>Gtc		interleukin 18 receptor accessory protein							132	134	133					2																	103068312		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068312A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1471A>G	2.37:g.103068312A>G	ENSP00000264260:p.Ile491Val					IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	p.I491V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2060	+			491			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1471A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.864991	0.00547	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07800	3.16;3.16	6.02	-7.56	0.01322	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.966608	0.08561	N	0.927536	T	0.03871	0.0109	N	0.13352	0.335	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.46978	-0.9152	10	0.13470	T	0.59	.	10.3177	0.43747	0.5517:0.241:0.2073:0.0	.	491	O95256	I18RA_HUMAN	V	491;349	ENSP00000264260:I491V;ENSP00000387201:I349V	ENSP00000264260:I491V	I	+	1	0	IL18RAP	102434744	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.198000	0.09505	-1.839000	0.01186	-0.917000	0.02746	ATC		0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		19	407	0	0	0	1	0	19	407					G	103068312	A	G	103068312	3	3	48	1	0	0	0	0	1	0	0	0	7678	449	16	4	1509	4	IL18RAP	2	103068312	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	3041096	103068312	140131061	22	5904											
ZNF804A	91752	broad.mit.edu	37	chr2	185802417	185802417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caattctgtcatgaatgaatCagaaagattctatcgaaaac	6	7	4	4			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:185802417C>T	ENST00000302277.6	+	4	2888	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	765							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGAATGAATCAGAAAGATTC	0.338																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2293-2295)tCa>tTa		zinc finger protein 804A							54	56	55					2																	185802417		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802417C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2294C>T	2.37:g.185802417C>T	ENSP00000303252:p.Ser765Leu						p.S765L	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2888	+			765					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2294C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022703	0.54683	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.85	5.85	0.93711	.	0.288957	0.24764	N	0.035786	T	0.09730	0.0239	L	0.47716	1.5	0.35829	D	0.825133	P	0.35077	0.483	B	0.33392	0.163	T	0.06881	-1.0802	10	0.87932	D	0	-6.925	19.1378	0.93435	0.0:1.0:0.0:0.0	.	765	Q7Z570	Z804A_HUMAN	L	765	ENSP00000303252:S765L	ENSP00000303252:S765L	S	+	2	0	ZNF804A	185510662	0.129000	0.22400	0.694000	0.30210	0.985000	0.73830	2.805000	0.47939	2.755000	0.94549	0.655000	0.94253	TCA		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		67	264	0	0	0	1	0	67	264					T	185802417	C	T	185802417	3	4	48	1	0	0	0	0	1	0	0	0	18223	838	29	2	2308	2	ZNF804A	2	185802417	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	82734105	185802417	57396956	23	5905											
SLC4A3	6508	broad.mit.edu	37	chr2	220494825	220494825	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagggacggtgatggaAccaccgacctggccctgtca	14	12	1	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:220494825A>G	ENST00000358055.3	+	6	1123				SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T215A|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000373760.2_Intron|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T215A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						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)			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)		CGGTGATGGAACCACCGACCT	0.682																																						ENST00000373762.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(643-645)Acc>Gcc		solute carrier family 4 (anion exchanger), member 3							40	35	37					2																	220494825		2203	4300	6503	SO:0001627	intron_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494825A>G		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.612-50A>G	2.37:g.220494825A>G						SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000358055.3_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T215A|SLC4A3_ENST00000373760.2_Intron	p.T215A	NM_005070.3	NP_005061.2	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)	6	912	+		Renal(207;0.0183)	203					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.643A>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	5.787	0.329471	0.10956	.	.	ENSG00000114923	ENST00000273063;ENST00000373762	T;T	0.28454	1.61;1.61	3.91	-3.45	0.04781	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	8	0.09084	T	0.74	.	5.644	0.17579	0.4025:0.1553:0.4421:0.0	.	215	P48751-3	.	A	215	ENSP00000273063:T215A;ENSP00000362867:T215A	ENSP00000273063:T215A	T	+	1	0	SLC4A3	220203069	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	-0.477000	0.06583	-0.631000	0.05560	0.379000	0.24179	ACC		0.682	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		19	146	0	0	0	1	0	19	146					G	220494825	A	G	220494825	1	3	48	0	1	0	0	0	0	0	0	0	14705	43	2	4		4	SLC4A3	2	220494825	Intron	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	34692408	220494825	22704548	24	5906											
EPHA4	2043	broad.mit.edu	37	chr2	222301271	222301271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaatacttcatcccagAcccaatgccacgaagcatgc	6	13	1	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:222301271A>G	ENST00000281821.2	-	13	2235	c.2194T>C	c.(2194-2196)Tct>Cct	p.S732P	EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCATCCCAGACCCAATGCCA	0.453																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2194-2196)Tct>Cct		EPH receptor A4							139	124	129					2																	222301271		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301271A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2194T>C	2.37:g.222301271A>G	ENSP00000281821:p.Ser732Pro					EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P	p.S732P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2235	-		Renal(207;0.0183)	732			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2194T>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874684	0.72180	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.94191	0.7441	10	0.87932	D	0	.	16.4684	0.84092	1.0:0.0:0.0:0.0	.	732	P54764	EPHA4_HUMAN	P	732;732;732;681	ENSP00000281821:S732P;ENSP00000386276:S732P;ENSP00000386829:S732P;ENSP00000375923:S681P	ENSP00000281821:S732P	S	-	1	0	EPHA4	222009515	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	7.306000	0.78905	2.289000	0.77006	0.460000	0.39030	TCT		0.453	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			79	426	0	0	0	1	0	79	426					G	222301271	A	G	222301271	3	3	48	1	0	0	0	0	1	0	0	0	5187	275	10	4	786	4	EPHA4	2	222301271	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	1806446	222301271	20898102	25	5907											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	310						7	310	---	---	---	---	-	227660810	GCT	-	227660808	7	5	48	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-FB-AAPQ-01A-11D-A40W-08	5359537	227660808	15538565	26	5908											
NEU4	129807	broad.mit.edu	37	chr2	242757458	242757458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccgcctacacctaccGcgtggaccgccgagagtgtt	12	15	0	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:242757458G>A	ENST00000391969.2	+	5	1250	c.539G>A	c.(538-540)cGc>cAc	p.R180H	NEU4_ENST00000325935.6_Missense_Mutation_p.R193H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000405370.1_Missense_Mutation_p.R180H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	180					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		TACACCTACCGCGTGGACCGC	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(538-540)cGc>cAc		sialidase 4							68	46	54					2																	242757458		2197	4299	6496	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757458G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.539G>A	2.37:g.242757458G>A	ENSP00000375830:p.Arg180His					NEU4_ENST00000405370.1_Missense_Mutation_p.R180H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000325935.6_Missense_Mutation_p.R193H	p.R180H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)	5	1250	+		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)	180					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.539G>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.676|5.676	0.309365|0.309365	0.10733|0.10733	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000415936;ENST00000426032|ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	T;T|D;D;D;D;D;D;D	0.36340|0.84516	1.26;1.27|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.47|4.47	-3.37|-3.37	0.04898|0.04898	.|Neuraminidase (2);	.|0.278834	.|0.39020	.|N	.|0.001484	T|T	0.61160|0.61160	0.2325|0.2325	N|N	0.03209|0.03209	-0.39|-0.39	0.24176|0.24176	N|N	0.9956|0.9956	.|B;B;B	.|0.11235	.|0.004;0.004;0.004	.|B;B;B	.|0.11329	.|0.001;0.001;0.006	T|T	0.52909|0.52909	-0.8512|-0.8512	7|10	0.22706|0.11182	T|T	0.39|0.66	-5.5641|-5.5641	11.8952|11.8952	0.52652|0.52652	0.8204:0.0:0.1796:0.0|0.8204:0.0:0.1796:0.0	.|.	.|192;192;180	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	T|H	95;107|180;180;190;180;192;180;193;180	ENSP00000397167:A95T;ENSP00000406678:A107T|ENSP00000385402:R180H;ENSP00000384804:R180H;ENSP00000397860:R180H;ENSP00000385149:R192H;ENSP00000375830:R180H;ENSP00000320318:R193H;ENSP00000388707:R180H	ENSP00000397167:A95T|ENSP00000320318:R193H	A|R	+|+	1|2	0|0	NEU4|NEU4	242406131|242406131	0.764000|0.764000	0.28473|0.28473	0.501000|0.501000	0.27601|0.27601	0.978000|0.978000	0.69477|0.69477	0.875000|0.875000	0.28079|0.28079	-0.569000|-0.569000	0.06030|0.06030	0.443000|0.443000	0.29094|0.29094	GCG|CGC		0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		25	96	0	0	0	1	0	25	96					A	242757458	G	A	242757458	3	1	48	1	0	0	0	0	1	0	0	0	10386	1087	38	1	592	1	NEU4	2	242757458	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	15096650	242757458	441915	27	5909											
DOCK3	1795	broad.mit.edu	37	chr3	51418535	51418535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccagtcaggtctggacGgcagcaactctacgctgtcc	11	16	3	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:51418535G>A	ENST00000266037.9	+	53	5661	c.5638G>A	c.(5638-5640)Ggc>Agc	p.G1880S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1880					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTCTGGACGGCAGCAACTC	0.617																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5638-5640)Ggc>Agc		dedicator of cytokinesis 3							64	77	73					3																	51418535		2192	4296	6488	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418535G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5638G>A	3.37:g.51418535G>A	ENSP00000266037:p.Gly1880Ser						p.G1880S	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5661	+			1880					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5638G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883752	0.91814	.	.	ENSG00000088538	ENST00000266037	T	0.04119	3.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40739	-0.9547	10	0.10111	T	0.7	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1880	Q8IZD9	DOCK3_HUMAN	S	1880	ENSP00000266037:G1880S	ENSP00000266037:G1880S	G	+	1	0	DOCK3	51393575	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	9.221000	0.95188	2.941000	0.99782	0.655000	0.94253	GGC		0.617	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		120	286	0	0	0	1	0	120	286					A	51418535	G	A	51418535	3	1	48	1	0	0	0	0	1	0	0	0	4704	1116	39	1	5848	1	DOCK3	3	51418535	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08		51418535	146603895	28	5910											
C3orf26	84319	broad.mit.edu	37	chr3	99879303	99879303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttttgatacaaccaaaGgaaagaaaagagaataccac	7	6	0	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:99879303G>A	ENST00000421999.2	+	3	329	c.183G>A	c.(181-183)aaG>aaA	p.K61K	CMSS1_ENST00000489081.1_Silent_p.K43K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	61							poly(A) RNA binding (GO:0044822)										TACAACCAAAGGAAAGAAAAG	0.308																																						ENST00000421999.2																			0											c.(181-183)aaG>aaA		cms1 ribosomal small subunit homolog (yeast)							42	44	43					3																	99879303		2196	4298	6494	SO:0001819	synonymous_variant	84319							g.chr3:99879303G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.183G>A	3.37:g.99879303G>A						CMSS1_ENST00000489081.1_Silent_p.K43K	p.K61K	NM_032359.3	NP_115735.2					3	329	+								A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.183G>A	CCDS2935.1																																																																																				0.308	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		13	63	0	0	0	1	0	13	63					A	99879303	G	A	99879303	2	1	48	1	0	0	0	0	0	0	0	1	2225	991	35	2		2	C3orf26	3	99879303	Silent	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	48460768	99879303	98143127	29	5911											
CPB1	1360	broad.mit.edu	37	chr3	148563359	148563359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccactcgtactcccaaatGatgatctacccttactcata	3	14	2	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:148563359G>A	ENST00000491148.1	+	10	1261	c.927G>A	c.(925-927)atG>atA	p.M309I	CPB1_ENST00000282957.4_Missense_Mutation_p.M309I			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	309						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCCCAAATGATGATCTACC	0.423																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(925-927)atG>atA		carboxypeptidase B1 (tissue)							141	134	137					3																	148563359		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563359G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.927G>A	3.37:g.148563359G>A	ENSP00000417222:p.Met309Ile					CPB1_ENST00000282957.4_Missense_Mutation_p.M309I	p.M309I			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1261	+			309					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.927G>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804211	0.50315	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.10382	2.88;2.88	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (4);	0.189388	0.56097	D	0.000025	T	0.22859	0.0552	M	0.67700	2.07	0.48696	D	0.999698	P	0.38992	0.653	P	0.47102	0.537	T	0.00180	-1.1949	10	0.87932	D	0	.	14.9509	0.71074	0.0702:0.0:0.9298:0.0	.	309	P15086	CBPB1_HUMAN	I	309	ENSP00000417222:M309I;ENSP00000282957:M309I	ENSP00000282957:M309I	M	+	3	0	CPB1	150046049	1.000000	0.71417	0.994000	0.49952	0.035000	0.12851	3.756000	0.55205	2.677000	0.91161	0.655000	0.94253	ATG		0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		66	278	0	0	0	1	0	66	278					A	148563359	G	A	148563359	3	1	48	1	0	0	0	0	1	0	0	0	3805	1290	45	2	961	2	CPB1	3	148563359	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	48684056	148563359	49459071	30	5912											
N4BP2	55728	broad.mit.edu	37	chr4	40144448	40144449	+	Frame_Shift_Ins	INS	-	-	A													aagaagcttatcggatagggINSaaaaaaaatgtcgccacctt							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:40144448_40144449insA	ENST00000261435.6	+	15	5357_5358	c.4941_4942insA	c.(4942-4944)aaafs	p.K1648fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1648					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCGGATAGGGAAAAAAAATGT	0.396																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4939-4944)ggaaaafs		NEDD4 binding protein 2																																				SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144448_40144449insA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4949dupA	4.37:g.40144456_40144456dupA	ENSP00000261435:p.Lys1648fs						p.GK1647fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5357_5358	+			1647					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Ins	INS	ENST00000261435.6	37	c.4941_4942insA	CCDS3457.1																																																																																				0.396	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	402						7	402	---	---	---	---	A	40144449	-	A	40144448	7	5	48	1	0	1	1	0	0	0	0	0	10151	1161	41	0	4991	0	N4BP2	4	40144448	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08		40144448	151009828	31	5913											
KIAA0922	23240	broad.mit.edu	37	chr4	154557660	154557660	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgaacctggacatatggActaccacagcgaataggaat	9	8	0	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:154557660A>C	ENST00000409663.3	+	35	4814	c.4762A>C	c.(4762-4764)Act>Cct	p.T1588P	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1588						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACATATGGACTACCACAGC	0.443																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4762-4764)Act>Cct		KIAA0922							101	96	98					4																	154557660		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557660A>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4762A>C	4.37:g.154557660A>C	ENSP00000386574:p.Thr1588Pro					KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	p.T1588P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			35	4814	+	all_hematologic(180;0.093)	Renal(120;0.118)	1588					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4762A>C	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745420	0.89663	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.23147	2.22;1.92;2.22;1.93	5.93	5.93	0.95920	.	0.053443	0.85682	D	0.000000	T	0.38054	0.1026	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.33111	-0.9881	10	0.72032	D	0.01	-21.6398	16.3721	0.83368	1.0:0.0:0.0:0.0	.	1505;1589;1588	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	P	1588;1505;1589;1366	ENSP00000386574:T1588P;ENSP00000409663:T1505P;ENSP00000386787:T1589P;ENSP00000240487:T1366P	ENSP00000240487:T1366P	T	+	1	0	KIAA0922	154777110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.620000	0.90943	2.257000	0.74773	0.533000	0.62120	ACT		0.443	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		18	368	0	0	0	1	0	18	368					C	154557660	A	C	154557660	3	2	48	1	0	0	0	0	1	0	0	0	8231	275	10	4	4903	4	KIAA0922	4	154557660	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	114413212	154557660	36596616	32	5914											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	1016	0	0	0	1	0	8	1016					A	186544317	G	A	186544317	3	1	48	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	31986657	186544317	4609959	33	5915											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	1141						10	1141	---	---	---	---	-	13919383	T	-	13919383	7	5	48	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-FB-AAPQ-01A-11D-A40W-08		13919383	166995877	34	5916											
NNT	23530	broad.mit.edu	37	chr5	43649279	43649279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatactgggtttgggcattgCggctcccaatctagcctttt	11	10	1	0	rs547961335		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:43649279C>T	ENST00000264663.5	+	11	1696	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	NNT_ENST00000512996.2_Missense_Mutation_p.A361V|NNT_ENST00000344920.4_Missense_Mutation_p.A492V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	492					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTGGGCATTGCGGCTCCCAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19479	0.001		0.0	False		,,,				2504	0.0					ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1474-1476)gCg>gTg		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						354	331	339					5																	43649279		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649279C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1475C>T	5.37:g.43649279C>T	ENSP00000264663:p.Ala492Val					NNT_ENST00000512996.2_Missense_Mutation_p.A361V|NNT_ENST00000344920.4_Missense_Mutation_p.A492V	p.A492V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			11	1696	+	Lung NSC(6;2.58e-06)		492					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1475C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.740067	0.03088	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95518	-3.73;-3.73;-3.6	5.24	-4.94	0.03057	.	1.903540	0.01968	N	0.043872	D	0.87744	0.6254	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79603	-0.1735	10	0.12103	T	0.63	2.9597	14.874	0.70481	0.0:0.3149:0.0:0.6851	.	492	Q13423	NNTM_HUMAN	V	492;492;361	ENSP00000264663:A492V;ENSP00000343873:A492V;ENSP00000426343:A361V	ENSP00000264663:A492V	A	+	2	0	NNT	43685036	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-1.492000	0.02300	-0.937000	0.03719	-0.794000	0.03295	GCG		0.488	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	1132	0	0	0	1	0	9	1132					T	43649279	C	T	43649279	3	4	48	1	0	0	0	0	1	0	0	0	10552	768	27	1	1513	1	NNT	5	43649279	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	29729896	43649279	137265981	35	5917											
PCDHB3	56132	broad.mit.edu	37	chr5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	17	11	1	0	rs144773246	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {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.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002					ENST00000231130.2																			1	Substitution - Missense(1)	p.H638Q(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1912-1914)caC>caG				C	GLN/HIS	8,3686		0,8,1839	21	23	22		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln						p.H638Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		8	277	0	0	0	1	0	8	277					G	140482147	C	G	140482147	3	3	48	1	0	0	0	0	1	0	0	0	11585	477	17	5	1916	5	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	96832868	140482147	40433113	36	5918											
CCDC69	26112	broad.mit.edu	37	chr5	150584969	150584969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggctactcacctgtgtccCcattgaggggacctaattca	9	13	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:150584969C>G	ENST00000355417.2	-	2	290	c.116G>C	c.(115-117)gGg>gCg	p.G39A	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	39										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGTGTCCCCATTGAGGGG	0.517																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(115-117)gGg>gCg		coiled-coil domain containing 69							142	138	139					5																	150584969		2203	4300	6503	SO:0001583	missense	26112							g.chr5:150584969C>G		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.116G>C	5.37:g.150584969C>G	ENSP00000347586:p.Gly39Ala					CCDC69_ENST00000521308.1_Intron	p.G39A	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	290	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	39					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.116G>C	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135710	0.56828	.	.	ENSG00000198624	ENST00000355417	T	0.22134	1.97	4.32	-1.51	0.08664	.	1.518870	0.03672	N	0.244161	T	0.13586	0.0329	L	0.27053	0.805	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.26155	-1.0111	10	0.07990	T	0.79	-0.9078	7.9535	0.30029	0.0:0.3237:0.0:0.6763	.	39	A6NI79	CCD69_HUMAN	A	39	ENSP00000347586:G39A	ENSP00000347586:G39A	G	-	2	0	CCDC69	150565162	0.002000	0.14202	0.007000	0.13788	0.986000	0.74619	-0.301000	0.08232	-0.179000	0.10654	0.555000	0.69702	GGG		0.517	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		52	174	0	0	0	1	0	52	174					G	150584969	C	G	150584969	3	3	48	1	0	0	0	0	1	0	0	0	2848	623	22	5	806	5	CCDC69	5	150584969	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	10102822	150584969	30330291	37	5919											
HLA-A	3105	broad.mit.edu	37	chr6	29912332	29912332	+	Silent	SNP	C	C	A													atcattgctggcctggttctCcttggagctgtgatcactgg							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912332C>A	ENST00000396634.1	+	7	1292	c.951C>A	c.(949-951)ctC>ctA	p.L317L	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.L317L|HLA-A_ENST00000376806.5_Silent_p.L317L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	317					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)			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						GCCTGGTTCTCCTTGGAGCTG	0.587									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)																												ENST00000396634.1																			0				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						c.(949-951)ctC>ctA		major histocompatibility complex, class I, A							108	102	104					6																	29912332		1509	2709	4218	SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, 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.chr6:29912332C>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.951C>A	6.37:g.29912332C>A		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.L317L|HLA-A_ENST00000376806.5_Silent_p.L317L	p.L317L			P30443	1A01_HUMAN			7	1292	+			317					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.951C>A	CCDS34373.1																																																																																				0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	281	1	0	1.58986e-06	1	1.71505e-06	7	281					A	29912332	C	A	29912332	2	1	48	1	0	0	0	0	0	0	0	1	7225	842	30	3		3	HLA-A	6	29912332	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08		29912332	141202735	38	5920	41	3									
HLA-A	3105	broad.mit.edu	37	chr6	29912337	29912337	+	Missense_Mutation	SNP	G	G	T													tgctggcctggttctccttgGagctgtgatcactggagctg					rs41550912		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912337G>T	ENST00000396634.1	+	7	1297	c.956G>T	c.(955-957)gGa>gTa	p.G319V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	319					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)			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						GTTCTCCTTGGAGCTGTGATC	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)																												ENST00000396634.1																			0				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						c.(955-957)gGa>gTa		major histocompatibility complex, class I, A							110	104	106					6																	29912337		1509	2709	4218	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, 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.chr6:29912337G>T	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.956G>T	6.37:g.29912337G>T	ENSP00000379873:p.Gly319Val	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V	p.G319V			P30443	1A01_HUMAN			7	1297	+			319					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.956G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	3.795	-0.042947	0.07452	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00682	5.87;5.86;5.87	2.98	-3.73	0.04398	.	1.138450	0.07111	U	0.842163	T	0.00328	0.0010	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.14805	0.011;0.002;0.003;0.002;0.001	B;B;B;B;B	0.14578	0.011;0.008;0.007;0.008;0.008	T	0.38178	-0.9673	10	0.87932	D	0	.	6.7595	0.23532	0.0:0.4328:0.2662:0.301	.	198;319;319;319;319	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	319	ENSP00000379873:G319V;ENSP00000366002:G319V;ENSP00000366005:G319V	ENSP00000366002:G319V	G	+	2	0	HLA-A	30020316	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.529000	0.06186	-0.834000	0.04239	0.485000	0.47835	GGA		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	265	1	0	2.17888e-05	1	2.2962e-05	6	265					T	29912337	G	T	29912337	3	4	48	1	0	0	0	0	1	0	0	0	7225	1174	41	3	974	3	HLA-A	6	29912337	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	5	29912337	141202730	39	5921	41	3									
HLA-A	3105	broad.mit.edu	37	chr6	29912345	29912345	+	Missense_Mutation	SNP	A	A	G													tggttctccttggagctgtgAtcactggagctgtggtcgct					rs3180278	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912345A>G	ENST00000396634.1	+	7	1305	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	322					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)			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						TGGAGCTGTGATCACTGGAGC	0.587									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)																												ENST00000396634.1																			0				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						c.(964-966)Atc>Gtc		major histocompatibility complex, class I, A							112	106	108					6																	29912345		1511	2708	4219	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, 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.chr6:29912345A>G	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.964A>G	6.37:g.29912345A>G	ENSP00000379873:p.Ile322Val	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V	p.I322V			P30443	1A01_HUMAN			7	1305	+			322					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.964A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	2.787	-0.252289	0.05829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00638	6.04;6.04;6.04	3.09	-4.5	0.03493	.	1.170570	0.06908	N	0.807074	T	0.00073	0.0002	N	0.00387	-1.565	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.39292	-0.9621	10	0.87932	D	0	.	1.172	0.01827	0.2182:0.2979:0.3261:0.1578	.	201;322;322;322;322	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	322	ENSP00000379873:I322V;ENSP00000366002:I322V;ENSP00000366005:I322V	ENSP00000366002:I322V	I	+	1	0	HLA-A	30020324	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.536000	0.06135	-1.069000	0.03153	-2.032000	0.00423	ATC		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	245	0	0	0	1	0	7	245					G	29912345	A	G	29912345	3	3	48	1	0	0	0	0	1	0	0	0	7225	333	12	4	982	4	HLA-A	6	29912345	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	8	29912345	141202722	40	5922	41	3									
MUC21	394263	broad.mit.edu	37	chr6	30954482	30954482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacaacctccagtggggCcagcacagccaccaactctg	9	17	1	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:30954482C>T	ENST00000376296.3	+	2	771	c.530C>T	c.(529-531)gCc>gTc	p.A177V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	177	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGGCCAGCACAGCC	0.617																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(529-531)gCc>gTc		mucin 21, cell surface associated							146	140	142					6																	30954482		2202	4299	6501	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954482C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.530C>T	6.37:g.30954482C>T	ENSP00000365473:p.Ala177Val					MUC21_ENST00000486149.2_5'UTR	p.A177V	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	771	+			177			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.530C>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402265	0.25291	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.04119	3.7	3.72	0.204	0.15199	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	8	.	.	.	-0.0142	3.1413	0.06456	0.1942:0.5248:0.0:0.281	.	177	Q5SSG8	MUC21_HUMAN	V	177	ENSP00000365473:A177V	.	A	+	2	0	MUC21	31062461	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.116000	0.10724	-0.105000	0.12132	-0.440000	0.05779	GCC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		15	2310	0	0	0	1	0	15	2310					T	30954482	C	T	30954482	3	4	48	1	0	0	0	0	1	0	0	0	10018	739	26	2	536	2	MUC21	6	30954482	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	1042137	30954482	140160585	41	5923											
BAT2	7916	broad.mit.edu	37	chr6	31599370	31599370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcccctcgaacagggggatGaaacccccaaacccccaaag	9	16	0	1	rs115591494	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31599370G>C	ENST00000376033.2	+	16	3154	c.2920G>C	c.(2920-2922)Gaa>Caa	p.E974Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	974	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACAGGGGGATGAAACCCCCAA	0.612													G|||	23	0.00459265	0.0091	0.0072	5008	,	,		13007	0.003		0.002	False		,,,				2504	0.001					ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2920-2922)Gaa>Caa		proline-rich coiled-coil 2A		G	GLN/GLU,GLN/GLU	13,2987		0,13,1487	16	19	18		2920,2920	5.2	1	6	dbSNP_132	18	9,5401		0,9,2696	yes	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	29,29	0,22,4183	CC,CG,GG		0.1664,0.4333,0.2616	probably-damaging,probably-damaging	974/2158,974/2158	31599370	22,8388	1500	2705	4205	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599370G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2920G>C	6.37:g.31599370G>C	ENSP00000365201:p.Glu974Gln					PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974Q	p.E974Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3154	+			974			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2920G>C	CCDS4708.1	12	0.005494505494505495	7	0.014227642276422764	2	0.0055248618784530384	2	0.0034965034965034965	1	0.0013192612137203166	G	7.968	0.748550	0.15710	0.004333	0.001664	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.15718	2.4;2.4	5.2	5.2	0.72013	.	0.109263	0.41001	D	0.000980	T	0.06645	0.0170	N	0.19112	0.55	0.38742	D	0.953902	P	0.42827	0.791	B	0.35240	0.198	T	0.12293	-1.0553	10	0.87932	D	0	-7.3324	17.6776	0.88235	0.0:0.0:1.0:0.0	.	974	P48634	PRC2A_HUMAN	Q	974;963;974;974;199	ENSP00000365175:E974Q;ENSP00000365201:E974Q	ENSP00000365175:E974Q	E	+	1	0	PRRC2A	31707349	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	4.930000	0.63462	2.722000	0.93159	0.655000	0.94253	GAA		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		22	249	0	0	0	1	0	22	249					C	31599370	G	C	31599370	3	2	48	1	0	0	0	0	1	0	0	0	1320	1291	45	5	2978	5	BAT2	6	31599370	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	644888	31599370	139515697	42	5924											
BAT2	7916	broad.mit.edu	37	chr6	31604005	31604005	+	Frame_Shift_Del	DEL	C	C	-													gatcacagcccctatacctaCcccccggcccagcccctccc							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31604005delC	ENST00000376033.2	+	26	5878	c.5644delC	c.(5644-5646)cccfs	p.P1883fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1883						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTATACCTACCCCCCGGCCC	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5644-5646)ccfs		proline-rich coiled-coil 2A							109	147	134					6																	31604005		1506	2709	4215	SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604005delC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5644delC	6.37:g.31604005delC	ENSP00000365201:p.Pro1883fs					PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5878	+			1883					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	ENST00000376033.2	37	c.5644delC	CCDS4708.1																																																																																				0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	1727						7	1727	---	---	---	---	-	31604005	C	-	31604005	7	5	48	1	0	1	0	1	0	0	0	0	1320	507	18	0	5742	0	BAT2	6	31604005	Frame_Shift_Del	DEL	C	TCGA-FB-AAPQ-01A-11D-A40W-08	4635	31604005	139511062	43	5925											
TNXB	7148	broad.mit.edu	37	chr6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctccttgcccccaacaCgcaccgcccggggccgccca	8	23	1	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4249-4251)cGt>cAt		tenascin XB							105	120	115					6																	32046935		1305	2558	3863	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H	p.R1417H			P22105	TENX_HUMAN			11	4451	-			1504			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4250G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		112	417	0	0	0	1	0	112	417					T	32046935	C	T	32046935	3	4	48	1	0	0	0	0	1	0	0	0	16398	536	19	1	10599	1	TNXB	6	32046935	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	442930	32046935	139068132	44	5926											
COL11A2	1302	broad.mit.edu	37	chr6	33139837	33139837	+	Frame_Shift_Del	DEL	G	G	-													ccagactcactgcagggccaGgggggccagacggaccttca							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:33139837delG	ENST00000374708.4	-	39	3032	c.2774delC	c.(2773-2775)cctfs	p.P925fs	COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P951fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P990fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P930fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.P1011fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P985fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P964fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P904fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1011	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCAGGGCCAGGGGGGCCAGA	0.582																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3031-3033)ctfs		collagen, type XI, alpha 2							128	161	149					6																	33139837		1508	2706	4214	SO:0001589	frameshift_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139837delG	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2774delC	6.37:g.33139837delG	ENSP00000363840:p.Pro925fs					COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P904fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P925fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P930fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P951fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P985fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P964fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P990fs	p.P1011fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			41	3259	-			1011			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Del	DEL	ENST00000374708.4	37	c.3032delC	CCDS43452.1																																																																																				0.582	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			7	976						7	976	---	---	---	---	-	33139837	G	-	33139837	7	5	48	1	0	1	0	1	0	0	0	0	3677	1000	35	0	2282	0	COL11A2	6	33139837	Frame_Shift_Del	DEL	G	TCGA-FB-AAPQ-01A-11D-A40W-08	1092902	33139837	137975230	45	5927											
POU6F2	11281	broad.mit.edu	37	chr7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagagctccagcccccCgcagaaacctagtcagtctc	8	18	2	2	rs144939808	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:39379547C>T	ENST00000403058.1	+	6	972	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(817-819)cCg>cTg		POU class 6 homeobox 2		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	116	130	125		818,818	3.8	1	7	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	POU6F2	NM_001166018.1,NM_007252.3	98,98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	273/656,273/692	39379547	3,13003	2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379547C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.818C>T	7.37:g.39379547C>T	ENSP00000384004:p.Pro273Leu					POU6F2_ENST00000403058.1_Missense_Mutation_p.P273L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR	p.P273L			P78424	PO6F2_HUMAN			5	860	+			273			Gln-rich.|Pro-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.818C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722810	0.48728	0.0	3.49E-4	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85702	0.99;-2.02	4.66	3.76	0.43208	.	2586.510000	0.00166	N	0.000001	D	0.86016	0.5832	L	0.55481	1.735	0.46678	D	0.999155	P;P	0.45011	0.848;0.725	B;B	0.41619	0.361;0.074	T	0.71580	-0.4550	10	0.49607	T	0.09	.	13.9533	0.64131	0.1534:0.8466:0.0:0.0	.	273;273	P78424-2;P78424	.;PO6F2_HUMAN	L	273	ENSP00000384004:P273L;ENSP00000430514:P273L	ENSP00000384004:P273L	P	+	2	0	POU6F2	39346072	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	5.936000	0.70153	0.916000	0.36871	0.557000	0.71058	CCG		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		43	184	0	0	0	1	0	43	184					T	39379547	C	T	39379547	3	4	48	1	0	0	0	0	1	0	0	0	12327	652	23	1	836	1	POU6F2	7	39379547	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08		39379547	119759116	46	5928											
POM121C	100101267	broad.mit.edu	37	chr7	75070256	75070257	+	Frame_Shift_Ins	INS	-	-	G													tttattttcctggccatcaaINSggaatatttggtcttcttcc							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:75070256_75070257insG	ENST00000257665.5	-	3	927_928	c.928_929insC	c.(928-930)cttfs	p.L310fs	POM121C_ENST00000453279.2_Frame_Shift_Ins_p.L68fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	310	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGCCATCAAGGAATATTTGG	0.46																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(202-204)tgafs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070256_75070257insG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.929dupC	7.37:g.75070258_75070258dupG	ENSP00000257665:p.Leu310fs					POM121C_ENST00000257665.5_Frame_Shift_Ins_p.*310fs	p.*68fs	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			5	1066_1067	-			310			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37	c.202_203insC																																																																																					0.46	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		47	981						47	981	---	---	---	---	G	75070257	-	G	75070256	7	5	48	1	0	1	1	0	0	0	0	0	12282	72	3	0	2804	0	POM121C	7	75070256	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08	35690709	75070256	84068407	47	5929											
RINT1	60561	broad.mit.edu	37	chr7	105204334	105204334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatgatatgttgacccGtcaagtagaccacgttttta	8	8	1	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:105204334G>A	ENST00000257700.2	+	12	2057	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTTGACCCGTCAAGTAGAC	0.388																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1825-1827)cGt>cAt		RAD50 interactor 1							102	92	95					7																	105204334		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204334G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1826G>A	7.37:g.105204334G>A	ENSP00000257700:p.Arg609His						p.R609H	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			12	2057	+			609			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1826G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392489	0.96009	.	.	ENSG00000135249	ENST00000257700	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42032	-0.9475	10	0.48119	T	0.1	-16.4485	20.8794	0.99867	0.0:0.0:1.0:0.0	.	609	Q6NUQ1	RINT1_HUMAN	H	609	ENSP00000257700:R609H	ENSP00000257700:R609H	R	+	2	0	RINT1	104991570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.142000	0.77339	2.941000	0.99782	0.655000	0.94253	CGT		0.388	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		73	212	0	0	0	1	0	73	212					A	105204334	G	A	105204334	3	1	48	1	0	0	0	0	1	0	0	0	13426	1145	40	1	1872	1	RINT1	7	105204334	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	30134078	105204334	53934329	48	5930											
PODXL	5420	broad.mit.edu	37	chr7	131196176	131196176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttttgttagatgagtcCgtagtagtctgggttgctgt	14	5	1	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:131196176C>T	ENST00000378555.3	-	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000541194.1_Silent_p.T41T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T			O00592	PODXL_HUMAN	podocalyxin-like	39	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TAGATGAGTCCGTAGTAGTCT	0.527																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(121-123)acG>acA		podocalyxin-like							191	182	185					7																	131196176		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196176C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.117G>A	7.37:g.131196176C>T						PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T|PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000378555.3_Silent_p.T39T	p.T41T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	380	-	Melanoma(18;0.162)		39			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.123G>A	CCDS34755.1																																																																																				0.527	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		51	219	0	0	0	1	0	51	219					T	131196176	C	T	131196176	2	4	48	1	0	0	0	0	0	0	0	1	12222	639	23	1		1	PODXL	7	131196176	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	25991842	131196176	27942487	49	5931											
ANK1	286	broad.mit.edu	37	chr8	41563703	41563703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccgtgtttgatcagcacAtctgccactggaacgtggcc	11	13	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:41563703A>G	ENST00000347528.4	-	18	2138	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000396942.1_Silent_p.D685D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	685	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGATCAGCACATCTGCCACTG	0.522																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2053-2055)gaT>gaC		ankyrin 1, erythrocytic							80	68	72					8																	41563703		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41563703A>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2055T>C	8.37:g.41563703A>G						ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000347528.4_Silent_p.D685D	p.D685D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		18	2138	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	685			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2055T>C	CCDS6119.1																																																																																				0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		64	187	0	0	0	1	0	64	187					G	41563703	A	G	41563703	2	3	48	1	0	0	0	0	0	0	0	1	620	214	8	4		4	ANK1	8	41563703	Silent	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08		41563703	104800319	50	5932											
SYBU	55638	broad.mit.edu	37	chr8	110588134	110588134	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagctgtttaatctctttCctggcttctttgagtgccaa	8	9	2	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:110588134C>T	ENST00000422135.1	-	8	1508	c.993G>A	c.(991-993)agG>agA	p.R331R	SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408908.2_Silent_p.R331R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000399066.3_Silent_p.R328R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000528647.1_Silent_p.R330R	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	331	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.			R -> G (in Ref. 3; BAG53323). {ECO:0000305}.	regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAATCTCTTTCCTGGCTTCTT	0.488																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(982-984)agG>agA		syntabulin (syntaxin-interacting)							87	90	89					8																	110588134		1977	4205	6182	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588134C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.993G>A	8.37:g.110588134C>T						SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000422135.1_Silent_p.R331R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000408908.2_Silent_p.R331R	p.R328R	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	1711	-			331			Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.984G>A	CCDS47912.1																																																																																				0.488	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		18	403	0	0	0	1	0	18	403					T	110588134	C	T	110588134	2	4	48	1	0	0	0	0	0	0	0	1	15479	854	30	2		2	SYBU	8	110588134	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	69024431	110588134	35775888	51	5933											
COL15A1	1306	broad.mit.edu	37	chr9	101797370	101797371	+	Frame_Shift_Ins	INS	-	-	C													gccctcctggggtcatgggaINScccccagggcctcctggacc							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:101797370_101797371insC	ENST00000375001.3	+	18	2577_2578	c.2154_2155insC	c.(2155-2157)cccfs	p.P719fs		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	719	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGTCATGGGACCCCCAGGGCC	0.584																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2152-2157)ggccccfs		collagen, type XV, alpha 1																																				SO:0001589	frameshift_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797370_101797371insC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2159dupC	9.37:g.101797375_101797375dupC	ENSP00000364140:p.Pro719fs						p.GP718fs	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			18	2577_2578	+		Acute lymphoblastic leukemia(62;0.0562)	718			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Frame_Shift_Ins	INS	ENST00000375001.3	37	c.2154_2155insC	CCDS35081.1																																																																																				0.584	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		8	415						8	415	---	---	---	---	C	101797371	-	C	101797370	7	5	48	1	0	1	1	0	0	0	0	0	3681	262	10	0	2224	0	COL15A1	9	101797370	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08		101797370	39416061	52	5934											
FAM129B	64855	broad.mit.edu	37	chr9	130272530	130272530	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgaagccctggctggtgggGaccatcagggcctccaggat	16	11	1	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:130272530G>C	ENST00000373312.3	-	9	1269	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.V339V	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	352					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGTGGGGACCATCAGGG	0.607																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1054-1056)gtC>gtG		family with sequence similarity 129, member B							141	134	136					9																	130272530		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130272530G>C	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.1056C>G	9.37:g.130272530G>C						FAM129B_ENST00000373314.3_Silent_p.V339V|FAM129B_ENST00000468379.1_Intron	p.V352V	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			9	1269	-			352					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1056C>G	CCDS35145.1																																																																																				0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		93	396	0	0	0	1	0	93	396					C	130272530	G	C	130272530	2	2	48	1	0	0	0	0	0	0	0	1	5458	1161	41	5		5	FAM129B	9	130272530	Silent	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	28475160	130272530	10940901	53	5935											
TMEM26	219623	broad.mit.edu	37	chr10	63170325	63170325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcttcgcggcaaagaAcaccagcatctgattgatca	9	10	3	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:63170325A>C	ENST00000399298.3	-	6	1230	c.862T>G	c.(862-864)Ttc>Gtc	p.F288V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	288						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCGGCAAAGAACACCAGCATC	0.507																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(862-864)Ttc>Gtc		transmembrane protein 26							103	108	106					10																	63170325		2114	4234	6348	SO:0001583	missense	219623					integral to membrane		g.chr10:63170325A>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.862T>G	10.37:g.63170325A>C	ENSP00000382237:p.Phe288Val					TMEM26_ENST00000507507.1_5'UTR	p.F288V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1230	-	Prostate(12;0.0112)		288					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.862T>G	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	A	32	5.156036	0.94686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86486	0.1794	9	0.87932	D	0	-0.0826	16.4288	0.83833	1.0:0.0:0.0:0.0	.	288	Q6ZUK4	TMM26_HUMAN	V	288	.	ENSP00000382237:F288V	F	-	1	0	TMEM26	62840331	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.906000	0.92626	2.282000	0.76494	0.533000	0.62120	TTC		0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		44	153	0	0	0	1	0	44	153					C	63170325	A	C	63170325	3	2	48	1	0	0	0	0	1	0	0	0	16203	43	2	4	248	4	TMEM26	10	63170325	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08		63170325	72364422	54	5936											
VCL	7414	broad.mit.edu	37	chr10	75849902	75849902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagatgacattctacGttcccttggggaaatatctg	10	7	2	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:75849902G>A	ENST00000211998.4	+	10	1392	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	433	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACATTCTACGTTCCCTTGGG	0.408																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1297-1299)cGt>cAt		vinculin							166	160	162					10																	75849902		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849902G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1298G>A	10.37:g.75849902G>A	ENSP00000211998:p.Arg433His					VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	p.R433H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			10	1392	+	Prostate(51;0.0112)		433			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1298G>A	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470139	0.96274	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36878	1.23;1.23;1.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.51422	1.61	0.80722	D	1	D;D;P	0.71674	0.998;0.995;0.469	D;D;B	0.71184	0.972;0.96;0.118	T	0.53885	-0.8375	10	0.52906	T	0.07	.	19.546	0.95297	0.0:0.0:1.0:0.0	.	360;433;433	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	433;433;340;360;105	ENSP00000361841:R433H;ENSP00000211998:R433H;ENSP00000415489:R105H	ENSP00000211998:R433H	R	+	2	0	VCL	75519908	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.341000	0.97041	2.626000	0.88956	0.585000	0.79938	CGT		0.408	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		10	393	0	0	0	1	0	10	393					A	75849902	G	A	75849902	3	1	48	1	0	0	0	0	1	0	0	0	17193	1145	40	1	1336	1	VCL	10	75849902	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	12679577	75849902	59684845	55	5937											
CCDC147	159686	broad.mit.edu	37	chr10	106166509	106166509	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accctgcagaagcgtctcatCagcaagactgaagaggtggt	12	10	2	4			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:106166509C>A	ENST00000369704.3	+	15	2348	c.2214C>A	c.(2212-2214)atC>atA	p.I738I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		738						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCGTCTCATCAGCAAGACTG	0.468																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(2212-2214)atC>atA		coiled-coil domain containing 147							154	154	154					10																	106166509		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106166509C>A																												ENST00000369704.3:c.2214C>A	10.37:g.106166509C>A							p.I738I	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	15	2348	+		Colorectal(252;0.103)|Breast(234;0.122)	738					D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.2214C>A	CCDS31282.1																																																																																				0.468	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			6	553	1	0	0.000157383	1	0.000164592	6	553					A	106166509	C	A	106166509	2	1	48	1	0	0	0	0	0	0	0	1	2788	816	29	3		3	CCDC147	10	106166509	Silent	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	30316607	106166509	29368238	56	5938											
PTPRE	5791	broad.mit.edu	37	chr10	129877829	129877829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctttttctctgcagtgccgGagctgggcgaacaggtacat	13	10	1	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:129877829G>T	ENST00000254667.3	+	20	2177	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V	PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	633	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TGCAGTGCCGGAGCTGGGCGA	0.483																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1897-1899)gGa>gTa		protein tyrosine phosphatase, receptor type, E							103	100	101					10																	129877829		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877829G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1898G>T	10.37:g.129877829G>T	ENSP00000254667:p.Gly633Val					PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	p.G633V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2177	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	633			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1898G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364034	0.82353	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.73363	-0.74;-0.74;-0.74	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95911	0.8923	10	0.87932	D	0	.	18.0677	0.89396	0.0:0.0:1.0:0.0	.	633;575;633	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	V	633;633;575	ENSP00000254667:G633V;ENSP00000402337:G633V;ENSP00000303350:G575V	ENSP00000254667:G633V	G	+	2	0	PTPRE	129767819	1.000000	0.71417	0.870000	0.34147	0.831000	0.47069	9.519000	0.98025	2.560000	0.86352	0.655000	0.94253	GGA		0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			67	195	1	0	2.72187e-29	1	3.05652e-29	67	195					T	129877829	G	T	129877829	3	4	48	1	0	0	0	0	1	0	0	0	12850	1174	41	3	2007	3	PTPRE	10	129877829	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	23711320	129877829	5656918	57	5939											
IFITM3	10410	broad.mit.edu	37	chr11	319946	319946	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttggcggtggaggcataGgcctgggccccggtcacgtc	16	13	1	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:319946G>T	ENST00000399808.4	-	2	530	c.294C>A	c.(292-294)gcC>gcA	p.A98A	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.A77A	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	98					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGGCATAGGCCTGGGCCC	0.617																																						ENST00000399808.4																			0				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(292-294)gcC>gcA		interferon induced transmembrane protein 3							54	57	56					11																	319946		1968	4117	6085	SO:0001819	synonymous_variant	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:319946G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.294C>A	11.37:g.319946G>T						IFITM3_ENST00000526811.1_Silent_p.A77A|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000602756.1_RNA	p.A98A	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	530	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	98					Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	c.294C>A	CCDS41585.1																																																																																				0.617	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		54	184	1	0	1.93748e-29	1	2.19368e-29	54	184					T	319946	G	T	319946	2	4	48	1	0	0	0	0	0	0	0	1	7558	987	35	3		3	IFITM3	11	319946	Silent	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08		319946	134686570	58	5940											
CYP2R1	120227	broad.mit.edu	37	chr11	14901766	14901766	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttccagcaatgatgagttCacccactgagaaaattaggt	9	8	1	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:14901766C>A	ENST00000334636.5	-	3	962	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CYP2R1_ENST00000532378.1_Nonsense_Mutation_p.E73*|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	306					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGATGAGTTCACCCACTGAG	0.393																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000532378.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(217-219)Gaa>Taa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						68	65	66					11																	14901766		2200	4293	6493	SO:0001587	stop_gained	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14901766C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.916G>T	11.37:g.14901766C>A	ENSP00000334592:p.Glu306*					CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Nonsense_Mutation_p.E306*	p.E73*			Q6VVX0	CP2R1_HUMAN			4	1071	-			306					Q2M3H3|Q5RT65	Nonsense_Mutation	SNP	ENST00000334636.5	37	c.217G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	43	10.097504	0.99336	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	.	.	.	6.17	6.17	0.99709	.	0.042761	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	73;306	.	ENSP00000334592:E306X	E	-	1	0	CYP2R1	14858342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.393	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		11	233	1	0	1.61879e-10	1	1.7885e-10	11	233					A	14901766	C	A	14901766	4	1	48	1	0	0	0	0	0	1	0	0	4184	835	29	3	601	3	CYP2R1	11	14901766	Nonsense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	14581820	14901766	120104750	59	5941											
GYLTL1B	120071	broad.mit.edu	37	chr11	45947827	45947827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtgcagcgtctgcctTgtgtctggaatgtgcagctg	15	9	2	0	rs201277259		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:45947827T>C	ENST00000531526.1	+	8	1048	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	313					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCGTCTGCCTTGTGTCTGGAA	0.597																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(937-939)Tgt>Cgt		glycosyltransferase-like 1B			ARG/CYS	0,4406		0,0,2203	89	85	86		937	5.9	1	11		86	1,8597	1.2+/-3.3	0,1,4298	yes	missense	GYLTL1B	NM_152312.3	180	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	313/722	45947827	1,13003	2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45947827T>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.937T>C	11.37:g.45947827T>C	ENSP00000432869:p.Cys313Arg					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R	p.C313R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	8	1048	+			313					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.937T>C	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.960946	0.74016	0.0	1.16E-4	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.62639	2.01;2.01;2.01;0.01;2.01;2.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86089	0.1549	10	0.87932	D	0	-28.9074	16.3188	0.82938	0.0:0.0:0.0:1.0	.	282;313	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	R	282;313;313;40;313;282	ENSP00000431932:C282R;ENSP00000432869:C313R;ENSP00000385235:C313R;ENSP00000374618:C40R;ENSP00000324570:C313R;ENSP00000445044:C282R	ENSP00000324570:C313R	C	+	1	0	GYLTL1B	45904403	1.000000	0.71417	0.995000	0.50966	0.428000	0.31595	7.688000	0.84153	2.252000	0.74401	0.520000	0.50463	TGT		0.597	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		54	286	0	0	0	1	0	54	286					C	45947827	T	C	45947827	3	2	48	1	0	0	0	0	1	0	0	0	6937	1812	63	4	963	4	GYLTL1B	11	45947827	Missense_Mutation	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	31046061	45947827	89058689	60	5942											
CELF1	10658	broad.mit.edu	37	chr11	47510453	47510453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttcatacacagcaccataCtgttcgaagagttcccgcaa	6	12	1	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47510453C>G	ENST00000358597.3	-	1	113	c.114G>C	c.(112-114)caG>caC	p.Q38H	CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q38H|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	38	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGCACCATACTGTTCGAAGA	0.473																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(112-114)caG>caC		CUGBP, Elav-like family member 1							161	161	161					11																	47510453		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510453C>G	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.114G>C	11.37:g.47510453C>G	ENSP00000351409:p.Gln38His					CELF1_ENST00000358597.3_Missense_Mutation_p.Q38H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H	p.Q38H	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			1	123	-			38			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.114G>C	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104279	0.76983	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.69	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.056069	0.64402	D	0.000001	T	0.33000	0.0848	L	0.55481	1.735	0.48452	D	0.999654	D;D;P;P;D;P	0.67145	0.996;0.988;0.679;0.679;0.988;0.725	P;P;B;B;P;B	0.59595	0.86;0.792;0.111;0.111;0.792;0.116	T	0.06285	-1.0835	10	0.72032	D	0.01	-6.7424	14.3806	0.66908	0.0:0.9293:0.0:0.0707	.	38;65;65;38;38;38	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	H	38;38;38;38;38;65;65;38;65;38;38;65;38	ENSP00000378705:Q38H;ENSP00000351409:Q38H;ENSP00000378706:Q38H;ENSP00000308386:Q38H;ENSP00000354639:Q38H;ENSP00000436864:Q65H;ENSP00000435926:Q65H;ENSP00000433986:Q38H;ENSP00000435320:Q65H;ENSP00000436191:Q38H;ENSP00000444825:Q38H;ENSP00000438044:Q65H;ENSP00000435423:Q38H	ENSP00000308386:Q38H	Q	-	3	2	CELF1	47467029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	1.402000	0.46780	0.561000	0.74099	CAG		0.473	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		6	684	0	0	0	1	0	6	684					G	47510453	C	G	47510453	3	3	48	1	0	0	0	0	1	0	0	0	3224	564	20	5	1397	5	CELF1	11	47510453	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	1562626	47510453	87496063	61	5943											
NRXN2	9379	broad.mit.edu	37	chr11	64419602	64419602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattgagcttgtgccccGcaaacagcgtttcggggcct	12	12	1	1	rs200231532		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:64419602G>A	ENST00000377551.1	-	12	2652	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A814V|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	814	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGTGCCCCGCAAACAGCGT	0.572																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2440-2442)gCg>gTg		neurexin 2							98	70	79					11																	64419602		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64419602G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2441C>T	11.37:g.64419602G>A	ENSP00000366774:p.Ala814Val					NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.A814V	p.A814V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			13	2902	-			814			Laminin G-like 4.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2441C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417206	0.62511	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42053	U	0.000778	T	0.68274	0.2983	L	0.37897	1.145	0.47659	D	0.999482	P;P;P	0.47545	0.897;0.871;0.643	B;B;B	0.37833	0.151;0.259;0.101	T	0.73789	-0.3872	10	0.54805	T	0.06	.	15.6201	0.76799	0.0:0.0:1.0:0.0	.	774;814;560	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	814;774;814;774;807	ENSP00000366774:A814V;ENSP00000366782:A774V;ENSP00000265459:A814V;ENSP00000386416:A807V	ENSP00000265459:A814V	A	-	2	0	NRXN2	64176178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.259000	0.58828	2.553000	0.86117	0.561000	0.74099	GCG		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		27	88	0	0	0	1	0	27	88					A	64419602	G	A	64419602	3	1	48	1	0	0	0	0	1	0	0	0	10708	1087	38	1	3010	1	NRXN2	11	64419602	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	16909149	64419602	70586914	62	5944											
USP35	57558	broad.mit.edu	37	chr11	77919947	77919947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctccgcatcctggacGccctggttcagccctggcac	9	18	2	0	rs555148298		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:77919947G>A	ENST00000529308.1	+	9	1791	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	USP35_ENST00000526425.1_Silent_p.T241T|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530267.1_Silent_p.T78T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	510	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CATCCTGGACGCCCTGGTTCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		22590	0.0		0.0	False		,,,				2504	0.001					ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1528-1530)acG>acA		ubiquitin specific peptidase 35							90	93	92					11																	77919947		2023	4171	6194	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77919947G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1530G>A	11.37:g.77919947G>A						USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T|USP35_ENST00000530267.1_Silent_p.T78T	p.T510T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	1791	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		510						Silent	SNP	ENST00000529308.1	37	c.1530G>A	CCDS41693.1																																																																																				0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		130	395	0	0	0	1	0	130	395					A	77919947	G	A	77919947	2	1	48	1	0	0	0	0	0	0	0	1	17120	1074	38	1		1	USP35	11	77919947	Silent	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	13500345	77919947	57086569	63	5945											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006455	103006455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacttttagacagggAcgattacaattcaggccccc	7	10	1	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:103006455A>G	ENST00000375735.2	+	17	2496	c.2352A>G	c.(2350-2352)ggA>ggG	p.G784G	DYNC2H1_ENST00000398093.3_Silent_p.G784G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	784	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGACAGGGACGATTACAAT	0.318																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(2350-2352)ggA>ggG		dynein, cytoplasmic 2, heavy chain 1							33	31	32					11																	103006455		1784	4052	5836	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103006455A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2352A>G	11.37:g.103006455A>G						DYNC2H1_ENST00000398093.3_Silent_p.G784G|DYNC2H1_ENST00000334267.7_Intron	p.G784G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	17	2496	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	784			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.2352A>G	CCDS53701.1																																																																																				0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		33	135	0	0	0	1	0	33	135					G	103006455	A	G	103006455	2	3	48	1	0	0	0	0	0	0	0	1	4862	262	10	4		4	DYNC2H1	11	103006455	Silent	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	25086508	103006455	32000061	64	5946											
ANKK1	255239	broad.mit.edu	37	chr11	113270540	113270540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgctggcagagagccacGcaaacatgggtgctcttgga	13	10	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:113270540G>A	ENST00000303941.3	+	8	1943	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	617							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A617S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGAGCCACGCAAACATGGG	0.637																																						ENST00000303941.3																			1	Substitution - Missense(1)	p.A617S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1849-1851)Gca>Aca		ankyrin repeat and kinase domain containing 1							21	26	24					11																	113270540		2122	4246	6368	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270540G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1849G>A	11.37:g.113270540G>A	ENSP00000306678:p.Ala617Thr						p.A617T	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1943	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	617						Missense_Mutation	SNP	ENST00000303941.3	37	c.1849G>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	4.640	0.119014	0.08881	.	.	ENSG00000170209	ENST00000303941	T	0.25912	1.77	4.87	2.91	0.33838	Ankyrin repeat-containing domain (4);	0.343915	0.24211	N	0.040540	T	0.23886	0.0578	M	0.62266	1.93	0.09310	N	1	B	0.22414	0.069	B	0.17979	0.02	T	0.19745	-1.0296	10	0.48119	T	0.1	-3.4949	7.1624	0.25671	0.1698:0.0:0.693:0.1372	.	617	Q8NFD2	ANKK1_HUMAN	T	617	ENSP00000306678:A617T	ENSP00000306678:A617T	A	+	1	0	ANKK1	112775750	0.999000	0.42202	0.008000	0.14137	0.045000	0.14185	3.594000	0.54008	0.231000	0.21079	-1.119000	0.02030	GCA		0.637	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		14	51	0	0	0	1	0	14	51					A	113270540	G	A	113270540	3	1	48	1	0	0	0	0	1	0	0	0	631	1087	38	1	1879	1	ANKK1	11	113270540	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	10264085	113270540	21735976	65	5947											
NCAPD3	23310	broad.mit.edu	37	chr11	134031774	134031774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatattttctatgaaatTcctcttctgaacctggtaac	4	8	3	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:134031774T>C	ENST00000534548.2	-	28	3650	c.3586A>G	c.(3586-3588)Aat>Gat	p.N1196D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1196					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTATGAAATTCCTCTTCTGA	0.403																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3586-3588)Aat>Gat		non-SMC condensin II complex, subunit D3							51	47	49					11																	134031774		2201	4296	6497	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134031774T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3586A>G	11.37:g.134031774T>C	ENSP00000433681:p.Asn1196Asp						p.N1196D	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	28	3650	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1196					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3586A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196500	0.79015	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.63417	-0.04;-0.04;-0.04	5.7	5.7	0.88788	Armadillo-type fold (1);	0.136711	0.64402	D	0.000004	T	0.78761	0.4334	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.974	T	0.81611	-0.0854	10	0.72032	D	0.01	-34.3963	12.4826	0.55852	0.0:0.0:0.1394:0.8606	.	1196;256	P42695;Q96FA6	CNDD3_HUMAN;.	D	1196;101;232	ENSP00000433681:N1196D;ENSP00000432532:N101D;ENSP00000435173:N232D	ENSP00000432532:N101D	N	-	1	0	NCAPD3	133536984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.796000	0.55507	2.170000	0.68504	0.533000	0.62120	AAT		0.403	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		30	100	0	0	0	1	0	30	100					C	134031774	T	C	134031774	3	2	48	1	0	0	0	0	1	0	0	0	10248	1783	62	4	942	4	NCAPD3	11	134031774	Missense_Mutation	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	20761234	134031774	974742	66	5948											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		44	141	0	0	0	1	0	44	141					T	25398284	C	T	25398284	3	4	48	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08		25398284	108453611	67	5949											
PLEKHA9	51054	broad.mit.edu	37	chr12	45568140	45568140	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagcagagtcttagTtctgacattttggttttcaa	9	7	4	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:45568140T>C	ENST00000256692.5	-	0	545					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTCTTAGTTCTGACATTT	0.448																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															154	149	151					12																	45568140		2203	4300	6503			0							g.chr12:45568140T>C	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568140T>C								NR_037144.1						0	545	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.448	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		96	607	0	0	0	1	0	96	607					C	45568140	T	C	45568140	1	2	48	0	1	0	0	0	0	0	0	0	12105	1722	60	4		4	PLEKHA9	12	45568140	RNA	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	20169856	45568140	88283755	68	5950											
SMARCC2	6601	broad.mit.edu	37	chr12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G													gtccaggggggggaacccctINSggtgggactgccccaggctg							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs					SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|RP11-977G19.5_ENST00000553176.1_RNA	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	310						7	310	---	---	---	---	G	56559128	-	G	56559127	7	5	48	1	0	1	1	0	0	0	0	0	14826	1567	55	0	542	0	SMARCC2	12	56559127	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08	10990987	56559127	77292768	69	5951											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		9	951						9	951	---	---	---	---	-	56628999	CTG	-	56628997	7	5	48	1	0	1	0	1	0	0	0	0	14671	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-FB-AAPQ-01A-11D-A40W-08	69870	56628997	77222898	70	5952											
HSP90B1	7184	broad.mit.edu	37	chr12	104326605	104326605	+	Splice_Site	DEL	T	T	-													ccctctggcttccatttagaTtttcctgagagaactgattt							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:104326605delT	ENST00000299767.5	+	4	478	c.296delT	c.(295-297)att>at	p.I99fs	RP11-642P15.1_ENST00000548897.1_RNA|MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	99					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCCATTTAGATTTTCCTGAGA	0.348																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.e4-1		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						110	113	112					12																	104326605		2202	4300	6502	SO:0001630	splice_region_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104326605delT	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.295-1T>-	12.37:g.104326605delT							p.I99_splice	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			4	478	+			99					Q96A97	Splice_Site	DEL	ENST00000299767.5	37	c.294_splice	CCDS9094.1																																																																																				0.348	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	Frame_Shift_Del	144	476						144	476	---	---	---	---	-	104326605	T	-	104326605	8	5	48	1	0	1	0	1	0	0	1	0	7433	1507	52	0	310	0	HSP90B1	12	104326605	Splice_Site	DEL	T	TCGA-FB-AAPQ-01A-11D-A40W-08	47697608	104326605	29525290	71	5953											
POTEG	404785	broad.mit.edu	37	chr14	19553760	19553760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggggagcggcaagaGcaaagtgggcccttggggag	20	8	0	1	rs375902660		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:19553760G>A	ENST00000409832.3	+	1	396	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCGGCAAGAGCAAAGTGGGC	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(343-345)aGc>aAc		POTE ankyrin domain family, member G							391	424	413					14																	19553760		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553760G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.344G>A	14.37:g.19553760G>A	ENSP00000386971:p.Ser115Asn						p.S115N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	396	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.344G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	0.049	-1.256079	0.01457	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.12263	0.0298	L	0.37630	1.12	0.09310	N	1	B	0.21147	0.052	B	0.21708	0.036	T	0.41805	-0.9488	7	0.02654	T	1	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	N	115	ENSP00000386971:S115N	ENSP00000386971:S115N	S	+	2	0	POTEG	18623760	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.058000	0.01394	-1.485000	0.01854	-1.526000	0.00926	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		18	2459	0	0	0	1	0	18	2459					A	19553760	G	A	19553760	3	1	48	1	0	0	0	0	1	0	0	0	12308	971	34	2	346	2	POTEG	14	19553760	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08		19553760	87795780	72	5954											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		7	351						7	351	---	---	---	---	T	39746243	-	T	39746242	7	5	48	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08	20192482	39746242	67603298	73	5955											
NOD2	64127	broad.mit.edu	37	chr16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttcctcaggaagtacatcCgcaccgagttcaacctcaag	8	14	3	0	rs375201229		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1315-1317)Cgc>Tgc		nucleotide-binding oligomerization domain containing 2		C	CYS/ARG	0,4396		0,0,2198	54	58	56		1315	3.2	0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	439/1041	50745137	1,12995	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745137C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1315C>T	16.37:g.50745137C>T	ENSP00000300589:p.Arg439Cys						p.R439C	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1420	+		all_cancers(37;0.0156)	439			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1315C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644800	0.14451	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.26	3.25	0.37280	.	0.304254	0.28871	N	0.013868	T	0.72867	0.3514	M	0.65975	2.015	0.39682	D	0.97091	B;B;B	0.21606	0.05;0.058;0.046	B;B;B	0.21151	0.02;0.033;0.027	T	0.68880	-0.5292	10	0.54805	T	0.06	.	8.3773	0.32451	0.0:0.792:0.0:0.208	.	223;412;439	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	412;439	ENSP00000300589:R439C	ENSP00000300589:R439C	R	+	1	0	NOD2	49302638	0.028000	0.19301	0.001000	0.08648	0.212000	0.24457	0.734000	0.26101	0.562000	0.29204	0.561000	0.74099	CGC		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		78	243	0	0	0	1	0	78	243					T	50745137	C	T	50745137	3	4	48	1	0	0	0	0	1	0	0	0	10559	652	23	1	1329	1	NOD2	16	50745137	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08		50745137	39609616	74	5956											
SLC12A4	6560	broad.mit.edu	37	chr16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacggagttatgccGcatgcctcccaggccacagg	11	16	0	0	rs370220716		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2365-2367)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56	57	57		2359,2365,2341,2266,2359	2.2	1	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980419G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp					SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W	p.R789W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2404	-		Ovarian(137;0.192)	787					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2365C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	290	0	0	0	1	0	5	290					A	67980419	G	A	67980419	3	1	48	1	0	0	0	0	1	0	0	0	14435	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	17235282	67980419	22374334	75	5957											
ADAMTS18	170692	broad.mit.edu	37	chr16	77317858	77317858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggacaccaagatcagaTcttccttgtgcatgacttgc	11	10	2	3			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:77317858T>C	ENST00000282849.5	-	23	4079	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1221	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAGATCAGATCTTCCTTGTG	0.512																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3661-3663)Atc>Gtc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							191	155	167					16																	77317858		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77317858T>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3661A>G	16.37:g.77317858T>C	ENSP00000282849:p.Ile1221Val					RP11-538I12.3_ENST00000561672.1_RNA	p.I1221V	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			23	4079	-			1221			PLAC.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3661A>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199573	0.58126	.	.	ENSG00000140873	ENST00000282849	T	0.59083	0.29	5.82	5.82	0.92795	PLAC (1);	0.342462	0.35320	N	0.003290	T	0.40595	0.1123	N	0.08118	0	0.34873	D	0.743774	B	0.16396	0.017	B	0.15870	0.014	T	0.51545	-0.8692	10	0.87932	D	0	.	15.3675	0.74535	0.0:0.0:0.0:1.0	.	1221	Q8TE60	ATS18_HUMAN	V	1221	ENSP00000282849:I1221V	ENSP00000282849:I1221V	I	-	1	0	ADAMTS18	75875359	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.218000	0.65257	2.225000	0.72522	0.533000	0.62120	ATC		0.512	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			15	267	0	0	0	1	0	15	267					C	77317858	T	C	77317858	3	2	48	1	0	0	0	0	1	0	0	0	263	1435	50	4	8	4	ADAMTS18	16	77317858	Missense_Mutation	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08	9337439	77317858	13036895	76	5958											
ZCCHC14	23174	broad.mit.edu	37	chr16	87466772	87466772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgtcattttttgtgtGtgataatcccttcaggtcta	7	7	4	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:87466772G>A	ENST00000268616.4	-	3	536	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	107							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTTTTGTGTGTGATAATCCC	0.343																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(319-321)Cac>Tac		zinc finger, CCHC domain containing 14							290	275	280					16																	87466772		2197	4299	6496	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87466772G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.319C>T	16.37:g.87466772G>A	ENSP00000268616:p.His107Tyr						p.H107Y	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	3	536	-			107					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.319C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898473	0.72639	.	.	ENSG00000140948	ENST00000268616	T	0.67865	-0.29	5.09	5.09	0.68999	Phox homologous domain (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	L	0.60455	1.87	0.35943	D	0.833362	D	0.63880	0.993	D	0.70227	0.968	D	0.84115	0.0403	10	0.72032	D	0.01	-25.1339	15.7875	0.78319	0.0:0.0:1.0:0.0	.	107	Q8WYQ9	ZCH14_HUMAN	Y	107	ENSP00000268616:H107Y	ENSP00000268616:H107Y	H	-	1	0	ZCCHC14	86024273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.594000	0.54008	2.529000	0.85273	0.563000	0.77884	CAC		0.343	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	141	0	0	0	1	0	4	141					A	87466772	G	A	87466772	3	1	48	1	0	0	0	0	1	0	0	0	17636	1377	48	2	2574	2	ZCCHC14	16	87466772	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	10148914	87466772	2887981	77	5959											
TP53	7157	broad.mit.edu	37	chr17	7577131	7577132	+	Frame_Shift_Del	DEL	GC	GC	-													gcacaaacacgcacctcaaaGctgttccgtcccagtagatt							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7577131_7577132delGC	ENST00000269305.4	-	8	995_996	c.806_807delGC	c.(805-807)agcfs	p.S269fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(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)	GCACCTCAAAGCTGTTCCGTCC	0.535		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)	ENST00000420246.2		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"		38	Whole gene deletion(8)|Deletion - In frame(7)|Substitution - Missense(7)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(1)	haematopoietic_and_lymphoid_tissue(8)|large_intestine(4)|bone(4)|urinary_tract(3)|oesophagus(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|lung(2)|ovary(2)|cervix(1)|eye(1)|prostate(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						c.(805-807)afs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577131_7577132delGC	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.806_807delGC	17.37:g.7577131_7577132delGC	ENSP00000269305:p.Ser269fs	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_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs	p.S269fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	938_939	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	269		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.806_807delGC	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	73						21	73	---	---	---	---	-	7577132	GC	-	7577131	7	5	48	1	0	1	0	1	0	0	0	0	16434	962	34	0	479	0	TP53	17	7577131	Frame_Shift_Del	DEL	GC	TCGA-FB-AAPQ-01A-11D-A40W-08		7577131	73618079	78	5960											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	264	0	0	0	1	0	7	264					G	16285497	A	G	16285497	2	3	48	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08	8708366	16285497	64909713	79	5961											
SRCIN1	80725	broad.mit.edu	37	chr17	36709027	36709027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctccagctcagggcCgggcaccagccggtggttgt	13	15	2	0	rs376938284	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:36709027C>T	ENST00000264659.7	-	12	2490	c.2266G>A	c.(2266-2268)Ggc>Agc	p.G756S	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	628					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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCTCAGGGCCGGGCACCAGC	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		16579	0.0		0.0	False		,,,				2504	0.0051					ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2266-2268)Ggc>Agc		SRC kinase signaling inhibitor 1		C	SER/GLY	0,4178		0,0,2089	54	64	61		2266	4.8	1	17		61	2,8470		0,2,4234	no	missense	SRCIN1	NM_025248.2	56	0,2,6323	TT,TC,CC		0.0236,0.0,0.0158	benign	756/1184	36709027	2,12648	2089	4236	6325	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.chr17:36709027C>T		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.2266G>A	17.37:g.36709027C>T	ENSP00000264659:p.Gly756Ser					SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S|SRCIN1_ENST00000398579.4_5'UTR	p.G756S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			12	2490	-			628					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2266G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929532	0.52759	0.0	2.36E-4	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.50548	0.74	4.85	4.85	0.62838	.	0.112392	0.64402	D	0.000014	T	0.39462	0.1079	L	0.36672	1.1	0.46416	D	0.999031	P;P;P;P	0.45428	0.858;0.625;0.625;0.625	B;B;B;B	0.38020	0.263;0.128;0.128;0.128	T	0.43861	-0.9365	10	0.56958	D	0.05	-30.4219	17.2494	0.87038	0.0:1.0:0.0:0.0	.	62;628;628;756	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	S	756;537;610	ENSP00000264659:G756S	ENSP00000264659:G756S	G	-	1	0	SRCIN1	33962553	0.651000	0.27340	0.957000	0.39632	0.297000	0.27493	5.445000	0.66594	2.678000	0.91216	0.555000	0.69702	GGC		0.612	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		84	262	0	0	0	1	0	84	262					T	36709027	C	T	36709027	3	4	48	1	0	0	0	0	1	0	0	0	15188	652	23	1	1317	1	SRCIN1	17	36709027	Missense_Mutation	SNP	C	TCGA-FB-AAPQ-01A-11D-A40W-08	20423530	36709027	44486183	80	5962											
COLEC12	81035	broad.mit.edu	37	chr18	335116	335116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgggcctctctcacccGcagggccaggtggtccaggc	13	15	2	0	rs565737372		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:335116G>A	ENST00000400256.3	-	6	1649	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	481	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCACCCGCAGGGCCAGG	0.652																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1441-1443)gCg>gTg		collectin sub-family member 12							33	34	34					18																	335116		2192	4288	6480	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335116G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1442C>T	18.37:g.335116G>A	ENSP00000383115:p.Ala481Val						p.A481V	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1649	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	481			Collagen-like 2.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1442C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	3.103	-0.184432	0.06340	.	.	ENSG00000158270	ENST00000400256	T	0.17213	2.29	5.67	3.86	0.44501	.	0.260619	0.44483	D	0.000456	T	0.09774	0.0240	N	0.20328	0.56	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17868	-1.0355	10	0.26408	T	0.33	-17.5347	8.4346	0.32780	0.1196:0.0:0.7477:0.1327	.	481	Q5KU26	COL12_HUMAN	V	481	ENSP00000383115:A481V	ENSP00000383115:A481V	A	-	2	0	COLEC12	325116	0.000000	0.05858	0.137000	0.22149	0.025000	0.11179	0.946000	0.29069	2.659000	0.90383	0.655000	0.94253	GCG		0.652	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			9	268	0	0	0	1	0	9	268					A	335116	G	A	335116	3	1	48	1	0	0	0	0	1	0	0	0	3721	1087	38	1	806	1	COLEC12	18	335116	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08		335116	77742132	81	5963											
SMAD4	4089	broad.mit.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	12	9	3	1	rs377767347		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																						ENST00000342988.3																			50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	p.0?(36)|p.R361H(12)|p.?(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM004254	SMAD4	M		c.(1081-1083)cGc>cAc		SMAD family member 4							167	138	148					18																	48591919		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591919G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1620	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1082G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		61	144	0	0	0	1	0	61	144					A	48591919	G	A	48591919	3	1	48	1	0	0	0	0	1	0	0	0	14810	1087	38	1	1112	1	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	48256803	48591919	29485329	82	5964											
HAUS8	93323	broad.mit.edu	37	chr19	17173553	17173553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccttccaccttcagacaTcttccctcgggtctgtgacc	6	16	3	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:17173553T>A	ENST00000253669.5	-	4	374	c.184A>T	c.(184-186)Atg>Ttg	p.M62L	HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L|HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	62					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCTTCAGACATCTTCCCTCGG	0.537																																						ENST00000253669.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(184-186)Atg>Ttg		HAUS augmin-like complex, subunit 8							190	151	164					19																	17173553		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17173553T>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.184A>T	19.37:g.17173553T>A	ENSP00000253669:p.Met62Leu					HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L|HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L	p.M62L			Q9BT25	HAUS8_HUMAN			4	374	-			62					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.184A>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	T	2.950	-0.216853	0.06101	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.42513	0.98;0.97	2.45	-2.04	0.07343	.	0.866434	0.09993	N	0.729472	T	0.31638	0.0803	L	0.51422	1.61	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.25745	-1.0123	10	0.27785	T	0.31	-2.9844	7.0491	0.25063	0.0:0.5648:0.0:0.4352	.	1;62;62	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	L	62	ENSP00000253669:M62L;ENSP00000395298:M62L	ENSP00000253669:M62L	M	-	1	0	HAUS8	17034553	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.360000	0.07622	-0.611000	0.05709	-0.379000	0.06801	ATG		0.537	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		19	385	0	0	0	1	0	19	385					A	17173553	T	A	17173553	3	1	48	1	0	0	0	0	1	0	0	0	7002	1435	50	5	1080	5	HAUS8	19	17173553	Missense_Mutation	SNP	T	TCGA-FB-AAPQ-01A-11D-A40W-08		17173553	41955430	83	5965											
ZNF160	90338	broad.mit.edu	37	chr19	53573085	53573085	+	Frame_Shift_Del	DEL	T	T	-													aaatggttaagttcatgataTtttttagacctgtgggtttg							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:53573085delT	ENST00000429604.1	-	7	1117	c.702delA	c.(700-702)aaafs	p.K234fs	ZNF160_ENST00000418871.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000601421.1_Frame_Shift_Del_p.K198fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	234					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTTCATGATATTTTTTAGACC	0.368																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(592-594)aafs		zinc finger protein 160							142	141	141					19																	53573085		2203	4300	6503	SO:0001589	frameshift_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573085delT	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.702delA	19.37:g.53573085delT	ENSP00000406201:p.Lys234fs					ZNF160_ENST00000429604.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.K234fs	p.K198fs			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1470	-			234					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Del	DEL	ENST00000429604.1	37	c.594delA	CCDS12859.1																																																																																				0.368	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		7	490						7	490	---	---	---	---	-	53573085	T	-	53573085	7	5	48	1	0	1	0	1	0	0	0	0	17792	1490	52	0	1758	0	ZNF160	19	53573085	Frame_Shift_Del	DEL	T	TCGA-FB-AAPQ-01A-11D-A40W-08	36399532	53573085	5555898	84	5966											
LILRA2	11027	broad.mit.edu	37	chr19	55086476	55086476	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtgtggtctctacccagtGatctcctggagctcctggtc	11	12	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:55086476G>T	ENST00000251377.3	+	5	764	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTACCCAGTGATCTCCTGGA	0.587																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(631-633)Gat>Tat		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							138	137	138					19																	55086476		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086476G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.631G>T	19.37:g.55086476G>T	ENSP00000251377:p.Asp211Tyr					LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y	p.D211Y						GBM - Glioblastoma multiforme(193;0.0963)	5	764	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.631G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971086	0.34754	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	2.8	1.75	0.24633	Immunoglobulin-like fold (1);	1.008970	0.07965	N	0.983077	T	0.08313	0.0207	M	0.93808	3.46	0.09310	N	0.999993	P;D;P;D	0.89917	0.748;0.993;0.808;1.0	B;P;B;D	0.69824	0.246;0.906;0.281;0.966	T	0.18967	-1.0320	9	.	.	.	.	5.0171	0.14343	0.1716:0.0:0.8284:0.0	.	211;199;211;211	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	211;211;211;211;199	ENSP00000388131:D211Y;ENSP00000251377:D211Y;ENSP00000375618:D211Y;ENSP00000251376:D211Y;ENSP00000375617:D199Y	.	D	+	1	0	LILRA2	59778288	0.001000	0.12720	0.059000	0.19551	0.037000	0.13140	0.087000	0.14958	1.570000	0.49709	0.400000	0.26472	GAT		0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			138	274	1	0	1.9732e-51	1	2.25274e-51	138	274					T	55086476	G	T	55086476	3	4	48	1	0	0	0	0	1	0	0	0	8817	1290	45	3	645	3	LILRA2	19	55086476	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	1513391	55086476	4042507	85	5967											
DSTN	11034	broad.mit.edu	37	chr20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T													gaaaagaaagaaggctgtcaINSttttttgtctcagtgcagac							TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(109-111)tttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581488_17581489insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs					DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs	p.F37fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	455_456	+			37			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.109_110insT	CCDS13127.1																																																																																				0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		9	408						9	408	---	---	---	---	T	17581489	-	T	17581488	7	5	48	1	0	1	1	0	0	0	0	0	4800	217	8	0	115	0	DSTN	20	17581488	Frame_Shift_Ins	INS	-	TCGA-FB-AAPQ-01A-11D-A40W-08		17581488	45444032	86	5968											
BMP7	655	broad.mit.edu	37	chr20	55758862	55758862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgctccccgtggaccGgatgctgcggaagtggacct	14	12	0	0			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:55758862G>A	ENST00000395863.3	-	4	1379	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCGTGGACCGGATGCTGCGG	0.637																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(874-876)Cgg>Tgg		bone morphogenetic protein 7							75	66	69					20																	55758862		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758862G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.874C>T	20.37:g.55758862G>A	ENSP00000379204:p.Arg292Trp					BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W	p.R292W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1379	-	all_lung(29;0.0133)|Melanoma(10;0.242)		292					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.874C>T	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954563|4.954563	0.92726|0.92726	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000450594	.|T;D	.|0.83075	.|-1.19;-1.68	5.48|5.48	4.52|4.52	0.55395|0.55395	.|.	.|0.049998	.|0.85682	.|D	.|0.000000	D|D	0.89083|0.89083	0.6614|0.6614	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.985;1.0	D|D	0.90219|0.90219	0.4270|0.4270	5|10	.|0.87932	.|D	.|0	.|.	16.2622|16.2622	0.82552|0.82552	0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0	.|.	.|292;292	.|P18075;B1AL00	.|BMP7_HUMAN;.	L|W	213|292	.|ENSP00000379204:R292W;ENSP00000398687:R292W	.|ENSP00000379204:R292W	P|R	-|-	2|1	0|2	BMP7|BMP7	55192269|55192269	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.984000|0.984000	0.73092|0.73092	9.580000|9.580000	0.98207|0.98207	1.271000|1.271000	0.44313|0.44313	0.643000|0.643000	0.83706|0.83706	CCG|CGG		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			106	283	0	0	0	1	0	106	283					A	55758862	G	A	55758862	3	1	48	1	0	0	0	0	1	0	0	0	1467	1115	39	1	437	1	BMP7	20	55758862	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	38177374	55758862	7266658	87	5969											
EEF1A2	1917	broad.mit.edu	37	chr20	62129078	62129078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccggagtccacgtggccGatgaccacgatgttgatgtg	13	10	0	2			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:62129078G>A	ENST00000298049.7	-	1	109	c.39C>T	c.(37-39)atC>atT	p.I13I	EEF1A2_ENST00000217182.3_Silent_p.I13I			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	13	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGTGGCCGATGACCACGA	0.602																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(37-39)atC>atT		eukaryotic translation elongation factor 1 alpha 2							170	145	154					20																	62129078		2202	4300	6502	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62129078G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.39C>T	20.37:g.62129078G>A						EEF1A2_ENST00000298049.7_Silent_p.I13I	p.I13I	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		2	204	-	all_cancers(38;9.45e-12)		13					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.39C>T	CCDS13522.1																																																																																				0.602	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		5	571	0	0	0	1	0	5	571					A	62129078	G	A	62129078	2	1	48	1	0	0	0	0	0	0	0	1	4940	1048	37	1		1	EEF1A2	20	62129078	Silent	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	6370216	62129078	896442	88	5970											
INPP5J	27124	broad.mit.edu	37	chr22	31523352	31523352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccctagggtaacaagGgtggcgtgagcgtgcgcctg	16	11	0	1	rs540212879		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:31523352G>A	ENST00000331075.5	+	6	1670	c.1621G>A	c.(1621-1623)Ggt>Agt	p.G541S	INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	541	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTAACAAGGGTGGCGTGAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.001					ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1621-1623)Ggt>Agt		inositol polyphosphate-5-phosphatase J							33	35	34					22																	31523352		2139	4241	6380	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523352G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1621G>A	22.37:g.31523352G>A	ENSP00000333262:p.Gly541Ser					INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S	p.G541S			Q15735	PI5PA_HUMAN			6	1670	+			541			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1621G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.565391	0.96527	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.8398	0.88712	0.0:0.0:1.0:0.0	.	541;173	Q15735;Q15735-3	PI5PA_HUMAN;.	S	541;474;174;174;173	ENSP00000333262:G541S;ENSP00000392924:G474S;ENSP00000383150:G174S;ENSP00000384596:G174S;ENSP00000384534:G173S	ENSP00000333262:G541S	G	+	1	0	INPP5J	29853352	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.453000	0.97619	2.363000	0.80096	0.655000	0.94253	GGT		0.637	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		17	72	0	0	0	1	0	17	72					A	31523352	G	A	31523352	3	1	48	1	0	0	0	0	1	0	0	0	7789	1232	43	2	539	2	INPP5J	22	31523352	Missense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08		31523352	19781214	89	5971											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	364	0	0	0	1	0	6	364					G	37028425	A	G	37028425	3	3	48	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FB-AAPQ-01A-11D-A40W-08		37028425	118242135	90	5972											
ELK1	2002	broad.mit.edu	37	chrX	47500789	47500789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgtggccattgccttGctctctcagcagctgcagca	11	12	2	1			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:47500789G>A	ENST00000247161.3	-	2	151	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	18					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCATTGCCTTGCTCTCTCAGC	0.597																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(52-54)Caa>Taa		ELK1, member of ETS oncogene family							72	50	57					X																	47500789		2203	4300	6503	SO:0001587	stop_gained	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47500789G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.52C>T	X.37:g.47500789G>A	ENSP00000247161:p.Gln18*					ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR	p.Q18*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			2	151	-			18					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Nonsense_Mutation	SNP	ENST00000247161.3	37	c.52C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415103	0.96092	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.323	0.66499	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000247161:Q18X	Q	-	1	0	ELK1	47385733	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.239000	0.72356	2.255000	0.74692	0.506000	0.49869	CAA		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		50	37	0	0	0	1	0	50	37					A	47500789	G	A	47500789	4	1	48	1	0	0	0	0	0	1	0	0	5077	1328	46	2	1254	2	ELK1	23	47500789	Nonsense_Mutation	SNP	G	TCGA-FB-AAPQ-01A-11D-A40W-08	10472364	47500789	107769771	91	5973											
UBE4B	10277	broad.mit.edu	37	chr1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgccgtcgctatatccGcagactccgggctatccggg	12	13	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:10197233G>A	ENST00000253251.8	+	16	2785	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	UBE4B_ENST00000377157.3_Missense_Mutation_p.R533H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1597-1599)cGc>cAc		ubiquitination factor E4B							152	135	141					1																	10197233		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10197233G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1946G>A	1.37:g.10197233G>A	ENSP00000253251:p.Arg649His					UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R649H	p.R533H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	16	2659	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	778						Missense_Mutation	SNP	ENST00000253251.8	37	c.1598G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802372	0.96960	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.74	5.71	5.71	0.89125	Ubiquitin conjugation factor E4, core (1);	0.046315	0.85682	D	0.000000	T	0.64494	0.2603	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.73380	0.91;0.98;0.855	T	0.62416	-0.6859	10	0.51188	T	0.08	-13.4016	19.8673	0.96808	0.0:0.0:1.0:0.0	.	649;778;649	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	649;533;778	ENSP00000253251:R649H;ENSP00000366362:R533H;ENSP00000343001:R778H	ENSP00000253251:R649H	R	+	2	0	UBE4B	10119820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.806000	0.99153	2.709000	0.92574	0.655000	0.94253	CGC		0.527	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	545	0	0	0	1	0	6	545					A	10197233	G	A	10197233	3	1	49	1	0	0	0	0	1	0	0	0	16937	1087	38	1	2399	1	UBE4B	1	10197233	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		10197233	239053388	1	5974											
BAI2	576	broad.mit.edu	37	chr1	32196581	32196581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcccgagtggtccacGgacaggaagctggggtagcc	16	13	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:32196581G>A	ENST00000373658.3	-	29	4541	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000373655.2_Silent_p.S1400S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.S1388S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1400					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGGTCCACGGACAGGAAGC	0.692																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4198-4200)tcC>tcT		brain-specific angiogenesis inhibitor 2							25	33	30					1																	32196581		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196581G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4200C>T	1.37:g.32196581G>A						BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000373655.2_Silent_p.S1400S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000398538.1_Silent_p.S1388S	p.S1400S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4541	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1400					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4200C>T	CCDS346.2																																																																																				0.692	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		12	238	0	0	0	1	0	12	238					A	32196581	G	A	32196581	2	1	49	1	0	0	0	0	0	0	0	1	1300	1103	39	1		1	BAI2	1	32196581	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	21999348	32196581	217054040	2	5975											
RSPO1	284654	broad.mit.edu	37	chr1	38079563	38079563	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgctcatttcacattgCgctggcaggaagagaaggga	12	10	2	1	rs202233461		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20078	0.0		0.0	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.e7-1		R-spondin 1		C	,,,	1,3913		0,1,1956	46	49	48		438,438,357,	-1.3	1	1		48	0,8282		0,0,4141	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	,,,	0,1,6097	TT,TC,CC		0.0,0.0255,0.0082	,,,	146/264,146/264,119/237,	38079563	1,12195	1957	4141	6098	SO:0001630	splice_region_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079563C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>A	1.37:g.38079563C>T						RSPO1_ENST00000373059.1_Splice_Site_p.A119_splice|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Splice_Site_p.A146_splice|RSPO1_ENST00000401068.1_Splice_Site_p.A146_splice	p.A146_splice	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1225	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	146					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	37	c.436_splice	CCDS41304.1																																																																																				0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	Silent	37	291	0	0	0	1	0	37	291					T	38079563	C	T	38079563	5	4	49	1	0	0	0	0	0	0	1	0	13759	782	27	1	361	1	RSPO1	1	38079563	Splice_Site	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	5882982	38079563	211171058	3	5976											
PPCS	79717	broad.mit.edu	37	chr1	42922346	42922346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcgcagggccggcgggTggtgttggttacgtcaggcg	22	9	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:42922346T>G	ENST00000372561.3	+	1	117	c.110T>G	c.(109-111)gTg>gGg	p.V37G	PPCS_ENST00000372560.3_Missense_Mutation_p.V37G|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000372565.3_5'Flank	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	37					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCGGCGGGTGGTGTTGGTT	0.711																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(109-111)gTg>gGg		phosphopantothenoylcysteine synthetase							17	21	20					1																	42922346		1870	4058	5928	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922346T>G	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.110T>G	1.37:g.42922346T>G	ENSP00000361642:p.Val37Gly					PPCS_ENST00000372560.3_Missense_Mutation_p.V37G|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron	p.V37G	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			1	117	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	37					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.110T>G	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394457	0.83011	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.21	4.07	0.47477	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.114072	0.64402	D	0.000015	T	0.79191	0.4404	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.81261	-0.1013	9	0.87932	D	0	-10.9091	10.4276	0.44387	0.0:0.0:0.1643:0.8357	.	37	Q9HAB8	PPCS_HUMAN	G	37	.	ENSP00000361641:V37G	V	+	2	0	PPCS	42694933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.576000	0.74023	0.977000	0.38444	0.455000	0.32223	GTG		0.711	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		14	117	0	0	0	1	0	14	117					G	42922346	T	G	42922346	3	3	49	1	0	0	0	0	1	0	0	0	12347	1696	59	4	112	4	PPCS	1	42922346	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	4842783	42922346	206328275	4	5977											
RNF220	55182	broad.mit.edu	37	chr1	44878230	44878230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagtctccccacttgcGcttctcagatgcagatggca	9	14	2	3			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:44878230G>A	ENST00000355387.2	+	2	911	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H			Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCCACTTGCGCTTCTCAGAT	0.537																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(460-462)cGc>cAc		ring finger protein 220							92	87	89					1																	44878230		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878230G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.461G>A	1.37:g.44878230G>A	ENSP00000347548:p.Arg154His					RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H	p.R154H			Q5VTB9	RN220_HUMAN			2	911	+			154					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.461G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405361	0.83230	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.114405	0.64402	N	0.000010	T	0.66867	0.2833	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70011	-0.4989	9	0.87932	D	0	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	154	Q5VTB9	RN220_HUMAN	H	154	.	ENSP00000347548:R154H	R	+	2	0	RNF220	44650817	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.684000	0.91462	0.655000	0.94253	CGC		0.537	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		21	467	0	0	0	1	0	21	467					A	44878230	G	A	44878230	3	1	49	1	0	0	0	0	1	0	0	0	13533	1087	38	1	463	1	RNF220	1	44878230	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	1955884	44878230	204372391	5	5978											
SPTA1	6708	broad.mit.edu	37	chr1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagcaactgttcccagCgcttcagcagagcggcataa	9	14	1	1	rs199993378		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					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.R2016H(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)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R2016H(1)	lung(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						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231	230	231		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	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.chr1:158592846C>T	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.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H|SPTA1_ENST00000461624.1_5'UTR	p.R2016H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		2016					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		55	1081	0	0	0	1	0	55	1081					T	158592846	C	T	158592846	3	4	49	1	0	0	0	0	1	0	0	0	15168	768	27	1	1252	1	SPTA1	1	158592846	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	113714616	158592846	90657775	6	5979											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	8	259						8	259	---	---	---	---	A	165712551	-	A	165712550	8	5	49	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-FB-AAPS-01A-12D-A397-08	7119704	165712550	83538071	7	5980											
DARS2	55157	broad.mit.edu	37	chr1	173795824	173795824	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttttttttttttttaaaGaattcagtagctttgttgtc	5	3	1	1	rs267598175		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:173795824G>A	ENST00000361951.4	+	2	854		c.e2-1		CENPL_ENST00000345664.6_5'Flank|CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000367710.3_5'Flank|DARS2_ENST00000239457.5_Splice_Site	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTTTTTTAAAGAATTCAGTAG	0.348																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.e2-1		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						56	57	57					1																	173795824		2203	4300	6503	SO:0001630	splice_region_variant	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795824G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.128-1G>A	1.37:g.173795824G>A						DARS2_ENST00000239457.5_Splice_Site		NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			2	854	+									Splice_Site	SNP	ENST00000361951.4	37		CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.809021	0.16537	.	.	ENSG00000117593	ENST00000361951	.	.	.	5.07	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4085	0.11421	0.0854:0.1262:0.5579:0.2304	.	.	.	.	.	-1	.	.	.	+	.	.	DARS2	172062447	1.000000	0.71417	0.791000	0.31998	0.252000	0.25951	7.534000	0.82004	1.260000	0.44134	0.467000	0.42956	.		0.348	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	Intron	10	205	0	0	0	1	0	10	205					A	173795824	G	A	173795824	5	1	49	1	0	0	0	0	0	0	1	0	4253	956	33	2	133	2	DARS2	1	173795824	Splice_Site	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	8083274	173795824	75454797	8	5981											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	601						7	601	---	---	---	---	-	182845333	T	-	182845333	7	5	49	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-FB-AAPS-01A-12D-A397-08	9049509	182845333	66405288	9	5982											
APOB	338	broad.mit.edu	37	chr2	21234547	21234547	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttaagtccttcttgactGaccttgaagttgaaaatgtt	8	7	1	4			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:21234547G>T	ENST00000233242.1	-	26	5320	c.5193C>A	c.(5191-5193)gtC>gtA	p.V1731V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1731					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)			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)					CTTCTTGACTGACCTTGAAGT	0.453																																						ENST00000233242.1																			0				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						c.(5191-5193)gtC>gtA		apolipoprotein B	Atorvastatin(DB01076)						222	209	213					2																	21234547		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234547G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5193C>A	2.37:g.21234547G>T							p.V1731V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5320	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1731					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5193C>A	CCDS1703.1																																																																																				0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			42	824	1	0	9.14704e-12	1	1.01227e-11	42	824					T	21234547	G	T	21234547	2	4	49	1	0	0	0	0	0	0	0	1	785	1277	45	3		3	APOB	2	21234547	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		21234547	221964826	10	5983											
KIF3C	3797	broad.mit.edu	37	chr2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-													atgggctggggcgggcggtgGttgttgttgttgtcatcctc					rs370364677		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1321-1323)del		kinesin family member 3C				2,4264		0,2,2131						1.5	1			92	6,8248		0,6,4121	no	coding	KIF3C	NM_002254.6		0,8,6252	A1A1,A1R,RR		0.0727,0.0469,0.0639				8,12512				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203464_26203466delGTT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1321_1323delAAC	2.37:g.26203473_26203475delGTT	ENSP00000264712:p.Asn441del					KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1900_1902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Poly-Asn.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1321_1323delAAC	CCDS1719.1																																																																																				0.621	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			7	536						7	536	---	---	---	---	-	26203466	GTT	-	26203464	7	5	49	1	0	1	0	1	0	0	0	0	8332	1252	44	0	1090	0	KIF3C	2	26203464	In_Frame_Del	DEL	GTT	TCGA-FB-AAPS-01A-12D-A397-08	4968917	26203464	216995909	11	5984											
LHCGR	3973	broad.mit.edu	37	chr2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccattaattctgggtttCgaactgcaaaataaatttta	6	6	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000401907.1_Silent_p.S317S|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1660-1662)cGa>cAa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						98	100	99					2																	48915275		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915275C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1661G>A	2.37:g.48915275C>T	ENSP00000294954:p.Arg554Gln					STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q	p.R554Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1682	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	554					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1661G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255868	0.22965	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.42131	0.98;0.98;0.98	5.68	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.241683	0.44285	N	0.000473	T	0.34861	0.0912	L	0.60904	1.88	0.27994	N	0.93555	B	0.14012	0.009	B	0.10450	0.005	T	0.22977	-1.0201	9	.	.	.	.	8.7189	0.34428	0.0:0.2173:0.0:0.7827	.	554	P22888	LSHR_HUMAN	Q	492;554;527	ENSP00000344301:R492Q;ENSP00000294954:R554Q;ENSP00000386033:R527Q	.	R	-	2	0	LHCGR	48768779	0.996000	0.38824	1.000000	0.80357	0.892000	0.51952	0.438000	0.21559	0.444000	0.26612	-1.273000	0.01405	CGA		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		19	338	0	0	0	1	0	19	338					T	48915275	C	T	48915275	3	4	49	1	0	0	0	0	1	0	0	0	8794	884	31	1	442	1	LHCGR	2	48915275	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	22711811	48915275	194284098	12	5985											
MAP4K4	9448	broad.mit.edu	37	chr2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgaggagtcggggaCgacggatgaggaggacgacg	19	7	0	2	rs545368433		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:102486181C>T	ENST00000347699.4	+	20	2318	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000413150.2_Missense_Mutation_p.T688M|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	773					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)			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						GAGTCGGGGACGACGGATGAG	0.582																																						ENST00000413150.2																			0				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						c.(2062-2064)aCg>aTg		mitogen-activated protein kinase kinase kinase kinase 4							37	41	40					2																	102486181		2055	4196	6251	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.chr2:102486181C>T	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.2318C>T	2.37:g.102486181C>T	ENSP00000314363:p.Thr773Met					MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T773M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M	p.T688M	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			19	2118	+			773					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.2063C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394360	0.83011	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.47716	1.5	0.48632	D	0.999681	D;D;P;D;D;D;D;D;D;D	0.89917	0.998;0.996;0.573;0.996;0.998;1.0;1.0;0.998;1.0;0.998	P;P;B;P;P;D;D;P;D;D	0.81914	0.858;0.764;0.051;0.764;0.881;0.98;0.995;0.881;0.956;0.938	D	0.86374	0.1725	10	0.66056	D	0.02	.	18.7238	0.91705	0.0:1.0:0.0:0.0	.	749;769;572;576;691;773;742;692;745;854	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	M	742;854;692;576;688;572;773;704;749	ENSP00000392830:T742M;ENSP00000313644:T854M;ENSP00000281111:T692M;ENSP00000303600:T576M;ENSP00000389752:T688M;ENSP00000387370:T572M;ENSP00000314363:T773M;ENSP00000409720:T704M;ENSP00000343658:T749M	ENSP00000303600:T576M	T	+	2	0	MAP4K4	101852613	1.000000	0.71417	0.957000	0.39632	0.950000	0.60333	4.574000	0.60900	2.420000	0.82092	0.563000	0.77884	ACG		0.582	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		3	48	0	0	0	1	0	3	48					T	102486181	C	T	102486181	3	4	49	1	0	0	0	0	1	0	0	0	9303	536	19	1	2647	1	MAP4K4	2	102486181	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	53570906	102486181	140713192	13	5986											
TTN	7273	broad.mit.edu	37	chr2	179444687	179444687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagctttgacagcatcacGagtttcaccgggatcaccaa	10	11	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:179444687G>A	ENST00000591111.1	-	268	62628	c.62404C>T	c.(62404-62406)Cgt>Tgt	p.R20802C	TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22443C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C			Q8WZ42	TITIN_HUMAN	titin	20802	Fibronectin type-III 50. {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)			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)			ACAGCATCACGAGTTTCACCG	0.413																																						ENST00000589042.1																			0				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						c.(67327-67329)Cgt>Tgt		titin							127	120	122					2																	179444687		1920	4132	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444687G>A	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.62404C>T	2.37:g.179444687G>A	ENSP00000465570:p.Arg20802Cys					TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN_ENST00000591111.1_Missense_Mutation_p.R20802C|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R22443C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		318	67551	-			20802			Ig-like 116.		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.67327C>T		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448776	0.26074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.1	5.1	0.69264	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41511	0.1162	N	0.04880	-0.145	0.45354	D	0.998348	D;D;D;D	0.69078	0.99;0.99;0.99;0.997	P;P;P;P	0.47299	0.543;0.543;0.543;0.543	T	0.55648	-0.8108	9	0.87932	D	0	.	18.8515	0.92232	0.0:0.0:1.0:0.0	.	13378;13503;13570;20802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19875;13378;13570;13503;13376	ENSP00000343764:R19875C;ENSP00000434586:R13378C;ENSP00000340554:R13570C;ENSP00000352154:R13503C	ENSP00000340554:R13570C	R	-	1	0	TTN	179152933	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	3.412000	0.52679	2.525000	0.85131	0.313000	0.20887	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	337	0	0	0	1	0	28	337					A	179444687	G	A	179444687	3	1	49	1	0	0	0	0	1	0	0	0	16789	1058	37	1	40832	1	TTN	2	179444687	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	76958506	179444687	63754686	14	5987											
SPHKAP	80309	broad.mit.edu	37	chr2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtctgctaattcttccGcaaagtctgtaatgcagtag	9	10	3	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A930V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.A930V(2)	large_intestine(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2788-2790)gCg>gTg		SPHK1 interactor, AKAP domain containing							192	174	180					2																	228882781		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882781G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2789C>T	2.37:g.228882781G>A	ENSP00000375909:p.Ala930Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2835	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	930			PKA-RII subunit binding domain (By similarity).		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2789C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036317	0.75617	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27557	1.68;1.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61058	-0.7139	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	930;930	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	930	ENSP00000375909:A930V;ENSP00000339886:A930V	ENSP00000339886:A930V	A	-	2	0	SPHKAP	228591025	1.000000	0.71417	0.980000	0.43619	0.385000	0.30292	9.096000	0.94182	2.894000	0.99253	0.655000	0.94253	GCG		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	613	0	0	0	1	0	6	613					A	228882781	G	A	228882781	3	1	49	1	0	0	0	0	1	0	0	0	15100	1087	38	1	2337	1	SPHKAP	2	228882781	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	49438094	228882781	14316592	15	5988											
SETD2	29072	broad.mit.edu	37	chr3	47098594	47098594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggagctgccacatgtGgcaccactggtactggtgga	13	12	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:47098594G>A	ENST00000409792.3	-	15	6722	c.6680C>T	c.(6679-6681)cCa>cTa	p.P2227L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2227	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCCACATGTGGCACCACTGG	0.552			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6679-6681)cCa>cTa		SET domain containing 2							52	50	51					3																	47098594		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098594G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6680C>T	3.37:g.47098594G>A	ENSP00000386759:p.Pro2227Leu						p.P2227L	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6722	-		Acute lymphoblastic leukemia(5;0.0169)	2227			Low charge region.|Pro-rich.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6680C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607273	0.46527	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.40476	1.03	5.1	4.16	0.48862	.	0.230823	0.30556	N	0.009361	T	0.21509	0.0518	N	0.08118	0	0.36605	D	0.874906	B;B	0.32245	0.361;0.361	B;B	0.27608	0.081;0.081	T	0.21280	-1.0250	10	0.46703	T	0.11	.	11.2548	0.49048	0.0:0.0:0.6575:0.3425	.	2227;2227	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	2227	ENSP00000386759:P2227L	ENSP00000386759:P2227L	P	-	2	0	SETD2	47073598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.205000	0.51090	2.814000	0.96858	0.655000	0.94253	CCA		0.552	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		4	178	0	0	0	1	0	4	178					A	47098594	G	A	47098594	3	1	49	1	0	0	0	0	1	0	0	0	14181	1348	47	2	1042	2	SETD2	3	47098594	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		47098594	150923836	16	5989											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	1240						7	1240	---	---	---	---	-	66436627	GCT	-	66436625	7	5	49	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-FB-AAPS-01A-12D-A397-08	19338031	66436625	131585805	17	5990											
IFT122	55764	broad.mit.edu	37	chr3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgatcgacatcgcccGcaaactggacaaggctgagc	12	12	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:129221571G>A	ENST00000348417.2	+	20	2470	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.R849H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	798					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACATCGCCCGCAAACTGGAC	0.597																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2545-2547)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							106	103	104					3																	129221571		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221571G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2393G>A	3.37:g.129221571G>A	ENSP00000324005:p.Arg798His					IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H	p.R849H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			21	2738	+			798					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2546G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455763	0.96223	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.65364	0.5;-0.15;-0.01;0.07;0.64;0.66;0.48;0.07;0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.994;0.997;1.0;1.0	D;D;D;P;D;D;P;P;D;D	0.81914	0.966;0.995;0.988;0.875;0.993;0.948;0.624;0.792;0.925;0.966	T	0.80919	-0.1167	10	0.59425	D	0.04	-14.9855	20.422	0.99049	0.0:0.0:1.0:0.0	.	589;124;790;185;674;638;687;739;798;849	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	739;849;790;739;648;674;687;798;638;589;295;160	ENSP00000323973:R739H;ENSP00000296266:R849H;ENSP00000425536:R790H;ENSP00000410946:R648H;ENSP00000422179:R674H;ENSP00000324165:R687H;ENSP00000324005:R798H;ENSP00000401569:R589H;ENSP00000424727:R295H	ENSP00000296266:R849H	R	+	2	0	IFT122	130704261	1.000000	0.71417	0.965000	0.40720	0.817000	0.46193	9.587000	0.98229	2.832000	0.97577	0.655000	0.94253	CGC		0.597	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		6	429	0	0	0	1	0	6	429					A	129221571	G	A	129221571	3	1	49	1	0	0	0	0	1	0	0	0	7585	1087	38	1	2628	1	IFT122	3	129221571	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	62784946	129221571	68800859	18	5991											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		10	291						10	291	---	---	---	---	-	56304532	CTG	-	56304530	7	5	49	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-FB-AAPS-01A-12D-A397-08		56304530	134849746	19	5992											
SCD5	79966	broad.mit.edu	37	chr4	83719510	83719510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcaccagggagtacaCggcccccaagtggagcaagc	14	12	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:83719510C>T	ENST00000319540.4	-	1	500	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	SCD5_ENST00000282709.4_Missense_Mutation_p.V61M|SCD5_ENST00000273908.4_Missense_Mutation_p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	61					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGGGAGTACACGGCCCCCAAG	0.711																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(181-183)Gtg>Atg		stearoyl-CoA desaturase 5							52	45	47					4																	83719510		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83719510C>T	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.181G>A	4.37:g.83719510C>T	ENSP00000316329:p.Val61Met					SCD5_ENST00000282709.4_Missense_Mutation_p.V61M|SCD5_ENST00000273908.4_Missense_Mutation_p.V61M	p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			1	500	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	61					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.181G>A	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782740	0.70222	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.49432	0.78	4.77	0.537	0.17144	.	0.566432	0.17256	N	0.180944	T	0.56217	0.1970	L	0.51422	1.61	0.32879	D	0.510265	D;D;D	0.76494	0.999;0.998;0.963	D;D;P	0.65233	0.913;0.933;0.489	T	0.64859	-0.6308	10	0.72032	D	0.01	0.0619	10.0677	0.42315	0.1298:0.4496:0.4206:0.0	.	61;61;61	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	M	61	ENSP00000316329:V61M	ENSP00000273908:V61M	V	-	1	0	SCD5	83938534	0.797000	0.28877	0.996000	0.52242	0.989000	0.77384	0.069000	0.14552	0.158000	0.19367	0.542000	0.68232	GTG		0.711	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		4	226	0	0	0	1	0	4	226					T	83719510	C	T	83719510	3	4	49	1	0	0	0	0	1	0	0	0	13937	536	19	1	1037	1	SCD5	4	83719510	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	27414980	83719510	107434766	20	5993											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	374						8	374	---	---	---	---	-	106863684	CCA	-	106863682	7	5	49	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-FB-AAPS-01A-12D-A397-08	23144172	106863682	84290594	21	5994											
SYNPO2	171024	broad.mit.edu	37	chr4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttactctagtaaaccaaccGatggactagagaaagcaaac	8	9	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3358-3360)Gat>Aat		synaptopodin 2							100	95	97					4																	119978661		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978661G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3358G>A	4.37:g.119978661G>A	ENSP00000306015:p.Asp1120Asn					SYNPO2_ENST00000448416.2_Silent_p.P121P	p.D1120N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3554	+			774					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3358G>A	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.142|9.142	1.014167|1.014167	0.19277|0.19277	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142|ENST00000504178	T|.	0.07800|.	3.16|.	5.7|5.7	0.624|0.624	0.17659|0.17659	.|.	0.847324|.	0.09877|.	N|.	0.744219|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.29253|.	0.154;0.239|.	B;B|.	0.14023|.	0.006;0.01|.	T|T	0.21381|0.21381	-1.0247|-1.0247	9|5	.|.	.|.	.|.	-2.2565|-2.2565	1.0387|1.0387	0.01554|0.01554	0.1675:0.2459:0.2102:0.3763|0.1675:0.2459:0.2102:0.3763	.|.	1120;1120|.	B9EG60;Q9UMS6-2|.	.;.|.	N|Q	1120|1013	ENSP00000306015:D1120N|.	.|.	D|R	+|+	1|2	0|0	SYNPO2|SYNPO2	120198109|120198109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.357000|0.357000	0.20199|0.20199	0.051000|0.051000	0.15978|0.15978	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.488	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	371	0	0	0	1	0	22	371					A	119978661	G	A	119978661	3	1	49	1	0	0	0	0	1	0	0	0	15509	1058	37	1	3488	1	SYNPO2	4	119978661	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	13114979	119978661	71175615	22	5995											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		12	1023						12	1023	---	---	---	---	-	24492973	A	-	24492973	7	5	49	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-FB-AAPS-01A-12D-A397-08		24492973	156422287	23	5996											
FTMT	94033	broad.mit.edu	37	chr5	121187809	121187809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccgccgccccctggccGcagccgcctcctcccgggac	10	26	0	0	rs368526431		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:121187809G>A	ENST00000321339.1	+	1	160	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	51					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCCCTGGCCGCAGCCGCCTC	0.771																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(151-153)Gca>Aca		ferritin mitochondrial		G	THR/ALA	2,4064		0,2,2031	6	8	7		151	-6.9	0	5		7	0,7978		0,0,3989	no	missense	FTMT	NM_177478.1	58	0,2,6020	AA,AG,GG		0.0,0.0492,0.0166	benign	51/243	121187809	2,12042	2033	3989	6022	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187809G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.151G>A	5.37:g.121187809G>A	ENSP00000313691:p.Ala51Thr						p.A51T	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	160	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	51						Missense_Mutation	SNP	ENST00000321339.1	37	c.151G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491220	0.26774	4.92E-4	0.0	ENSG00000181867	ENST00000321339	T	0.64618	-0.11	3.46	-6.93	0.01638	.	.	.	.	.	T	0.36963	0.0986	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.16276	-1.0408	9	0.20046	T	0.44	.	3.7474	0.08554	0.1643:0.0997:0.1353:0.6006	.	51	Q8N4E7	FTMT_HUMAN	T	51	ENSP00000313691:A51T	ENSP00000313691:A51T	A	+	1	0	FTMT	121215708	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.539000	0.06113	-1.953000	0.01026	0.650000	0.86243	GCA		0.771	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		9	46	0	0	0	1	0	9	46					A	121187809	G	A	121187809	3	1	49	1	0	0	0	0	1	0	0	0	6112	1087	38	1	153	1	FTMT	5	121187809	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	96694836	121187809	59727451	24	5997											
CHSY3	337876	broad.mit.edu	37	chr5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataattacatgctcagccGcaaaatttctgaacttcgct	6	11	2	1	rs140992502		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1234-1236)cGc>cAc		chondroitin sulfate synthase 3		G	HIS/ARG	0,4406		0,0,2203	98	89	92		1235	4.5	1	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520070G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His					CHSY3_ENST00000507545.1_3'UTR	p.R412H	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1593	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	412					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1235G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		0.478	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		5	322	0	0	0	1	0	5	322					A	129520070	G	A	129520070	3	1	49	1	0	0	0	0	1	0	0	0	3422	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	8332261	129520070	51395190	25	5998											
RAD50	10111	broad.mit.edu	37	chr5	131953986	131953987	+	Splice_Site	DEL	AG	AG	-													ttattataagactcttgaccAgtaagtattagactggggat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:131953986_131953987delAG	ENST00000265335.6	+	21	3776	c.3389delAG	c.(3388-3390)cag>cg	p.Q1130fs	RAD50_ENST00000378823.3_Splice_Site_p.Q991fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1130					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTTGACCAGTAAGTATTAG	0.292								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.e21+1	Homologous recombination	RAD50 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953986_131953987delAG	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3389+1AG>-	5.37:g.131953986_131953987delAG						RAD50_ENST00000265335.6_Splice_Site_p.1130_splice	p.991_splice	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3790	+		all_cancers(142;0.0368)|Breast(839;0.198)	1130					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Splice_Site	DEL	ENST00000265335.6	37	c.2972_splice	CCDS34233.1																																																																																				0.292	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	Frame_Shift_Del	9	153						9	153	---	---	---	---	-	131953987	AG	-	131953986	8	5	49	1	0	1	0	1	0	0	1	0	13034	202	7	0	3471	0	RAD50	5	131953986	Splice_Site	DEL	AG	TCGA-FB-AAPS-01A-12D-A397-08	2433916	131953986	48961274	26	5999											
VDAC1	7416	broad.mit.edu	37	chr5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-													accctgtcttgattttagcaTtttttttcctgaaggaaaat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)aatfs	p.N111fs	VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(331-333)atfs		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						51	56	54					5																	133316639		2203	4300	6503	SO:0001589	frameshift_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316639delT		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.332delA	5.37:g.133316639delT	ENSP00000265333:p.Asn111fs					VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs	p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	576	-			111					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Frame_Shift_Del	DEL	ENST00000265333.3	37	c.332delA	CCDS4168.1																																																																																				0.403	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			7	280						7	280	---	---	---	---	-	133316639	T	-	133316639	7	5	49	1	0	1	0	1	0	0	0	0	17200	1493	52	0	535	0	VDAC1	5	133316639	Frame_Shift_Del	DEL	T	TCGA-FB-AAPS-01A-12D-A397-08	1362653	133316639	47598621	27	6000											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	425	1	0	0.0581538	1	0.0585062	6	425					T	140553994	G	T	140553994	2	4	49	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	7237355	140553994	40361266	28	6001											
FAT2	2196	broad.mit.edu	37	chr5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtccgtctccatgaccGtaaagctgtagtaggtctca	11	11	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12. {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)			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)			CTCCATGACCGTAAAGCTGTA	0.587																																						ENST00000261800.5																			0				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						c.(4069-4071)aCg>aTg		FAT atypical cadherin 2							110	95	100					5																	150932824		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.chr5:150932824G>A	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.4070C>T	5.37:g.150932824G>A	ENSP00000261800:p.Thr1357Met						p.T1357M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4082	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1357			Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4070C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942923	0.73672	.	.	ENSG00000086570	ENST00000261800	T	0.54071	0.59	5.38	4.47	0.54385	Cadherin (3);Cadherin-like (1);	0.325213	0.25762	N	0.028464	T	0.63343	0.2503	M	0.74881	2.28	0.09310	N	0.999997	D	0.63880	0.993	P	0.55055	0.767	T	0.59257	-0.7488	10	0.66056	D	0.02	.	10.3587	0.43980	0.0:0.1453:0.704:0.1507	.	1357	Q9NYQ8	FAT2_HUMAN	M	1357	ENSP00000261800:T1357M	ENSP00000261800:T1357M	T	-	2	0	FAT2	150913017	0.967000	0.33354	0.795000	0.32087	0.986000	0.74619	5.130000	0.64745	2.524000	0.85096	0.561000	0.74099	ACG		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	331	0	0	0	1	0	5	331					A	150932824	G	A	150932824	3	1	49	1	0	0	0	0	1	0	0	0	5715	1145	40	1	9055	1	FAT2	5	150932824	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	10378830	150932824	29982436	29	6002											
SNCB	6620	broad.mit.edu	37	chr5	176053513	176053513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttccttggttttttcAgccactggagcagggagggg	15	9	1	0	rs111621148		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:176053513A>G	ENST00000310112.3	-	5	418	c.168T>C	c.(166-168)gcT>gcC	p.A56A	SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000510387.1_Silent_p.A56A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	56	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTTTCAGCCACTGGAG	0.607																																						ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(166-168)gcT>gcC		synuclein, beta							69	62	64					5																	176053513		2203	4300	6503	SO:0001819	synonymous_variant	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053513A>G	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.168T>C	5.37:g.176053513A>G						SNCB_ENST00000510387.1_Silent_p.A56A|SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A	p.A56A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	418	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	56			4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Silent	SNP	ENST00000310112.3	37	c.168T>C	CCDS4406.1																																																																																				0.607	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		4	182	0	0	0	1	0	4	182					G	176053513	A	G	176053513	2	3	49	1	0	0	0	0	0	0	0	1	14892	175	7	4		4	SNCB	5	176053513	Silent	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	25120689	176053513	4861747	30	6003											
RREB1	6239	broad.mit.edu	37	chr6	7229268	7229268	+	Missense_Mutation	SNP	G	G	T													ctgcggaggtgcatcagcgaGcaacaccgttttgtctgcga							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229268G>T	ENST00000349384.6	+	10	1250	c.936G>T	c.(934-936)gaG>gaT	p.E312D	RREB1_ENST00000379938.2_Missense_Mutation_p.E312D|RREB1_ENST00000379933.3_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	312					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCATCAGCGAGCAACACCGTT	0.522																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(934-936)gaG>gaT		ras responsive element binding protein 1							83	64	71					6																	7229268		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229268G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.936G>T	6.37:g.7229268G>T	ENSP00000305560:p.Glu312Asp					RREB1_ENST00000334984.6_Missense_Mutation_p.E312D|RREB1_ENST00000349384.6_Missense_Mutation_p.E312D|RREB1_ENST00000379933.3_Missense_Mutation_p.E312D	p.E312D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1473	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	312					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.936G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287328	0.23478	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.71	2.22	0.28083	.	0.107300	0.39407	N	0.001366	T	0.16685	0.0401	N	0.13140	0.3	0.33872	D	0.635106	B;B;B	0.22604	0.03;0.072;0.058	B;B;B	0.29353	0.101;0.043;0.022	T	0.03933	-1.0991	10	0.46703	T	0.11	-48.8501	0.7439	0.00979	0.3902:0.1627:0.2814:0.1657	.	312;312;312	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	312	ENSP00000369265:E312D;ENSP00000369270:E312D;ENSP00000305560:E312D;ENSP00000335574:E312D;ENSP00000419511:E312D	ENSP00000335574:E312D	E	+	3	2	RREB1	7174267	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.151000	0.42263	0.645000	0.30675	0.462000	0.41574	GAG		0.522	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	196	1	0	5.16669e-11	1	5.64257e-11	11	196					T	7229268	G	T	7229268	3	4	49	1	0	0	0	0	1	0	0	0	13729	962	34	3	962	3	RREB1	6	7229268	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		7229268	163885799	31	6004	42	2									
RREB1	6239	broad.mit.edu	37	chr6	7229269	7229269	+	Nonsense_Mutation	SNP	C	C	T													tgcggaggtgcatcagcgagCaacaccgttttgtctgcgac							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229269C>T	ENST00000349384.6	+	10	1251	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	313					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CATCAGCGAGCAACACCGTTT	0.522																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(937-939)Caa>Taa		ras responsive element binding protein 1							83	64	71					6																	7229269		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229269C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.937C>T	6.37:g.7229269C>T	ENSP00000305560:p.Gln313*					RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*	p.Q313*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1474	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	313					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.937C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	38	6.868490	0.97897	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.71	4.74	0.60224	.	0.453195	0.18047	N	0.153432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-45.1168	3.769	0.08635	0.0:0.664:0.0:0.336	.	.	.	.	X	313	.	ENSP00000335574:Q313X	Q	+	1	0	RREB1	7174268	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.726000	0.68515	2.701000	0.92244	0.462000	0.41574	CAA		0.522	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			12	196	0	0	0	1	0	12	196					T	7229269	C	T	7229269	4	4	49	1	0	0	0	0	0	1	0	0	13729	711	25	2	963	2	RREB1	6	7229269	Nonsense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	1	7229269	163885798	32	6005	42	2									
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		8	704						8	704	---	---	---	---	-	33411203	CAC	-	33411201	7	5	49	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-FB-AAPS-01A-12D-A397-08	26181932	33411201	137703866	33	6006											
MPP6	51678	broad.mit.edu	37	chr7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A													tttgtggaactataagtagcINSaaaaaaaagaaaaagatgat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:24705665_24705666insA	ENST00000222644.5	+	8	1159_1160	c.909_910insA	c.(910-912)aaafs	p.K304fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.K192fs|MPP6_ENST00000396475.2_Frame_Shift_Ins_p.K304fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(907-912)agaaaafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705665_24705666insA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.917dupA	7.37:g.24705673_24705673dupA	ENSP00000222644:p.Lys304fs					MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs	p.RK303fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1208_1209	+			303					B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.909_910insA	CCDS5388.1																																																																																				0.302	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			8	584						8	584	---	---	---	---	A	24705666	-	A	24705665	7	5	49	1	0	1	1	0	0	0	0	0	9779	709	25	0	935	0	MPP6	7	24705665	Frame_Shift_Ins	INS	-	TCGA-FB-AAPS-01A-12D-A397-08		24705665	134432998	34	6007											
HECW1	23072	broad.mit.edu	37	chr7	43484438	43484438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggggaccccgagacccCgcggacacactacatccgca	11	18	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:43484438C>T	ENST00000395891.2	+	11	2272	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	556					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCGAGACCCCGCGGACACAC	0.692																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1666-1668)cCg>cTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							40	49	46					7																	43484438		2091	4214	6305	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484438C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1667C>T	7.37:g.43484438C>T	ENSP00000379228:p.Pro556Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2272	+			556					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1667C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948443	0.92593	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.53857	0.82;0.6	5.32	5.32	0.75619	.	0.268140	0.43747	D	0.000526	T	0.69797	0.3151	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66288	-0.5961	10	0.33141	T	0.24	.	19.0047	0.92846	0.0:1.0:0.0:0.0	.	556;556	B4DH42;Q76N89	.;HECW1_HUMAN	L	556	ENSP00000379228:P556L;ENSP00000407774:P556L	ENSP00000265522:P556L	P	+	2	0	HECW1	43450963	1.000000	0.71417	0.772000	0.31596	0.952000	0.60782	7.680000	0.84062	2.475000	0.83589	0.655000	0.94253	CCG		0.692	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		17	274	0	0	0	1	0	17	274					T	43484438	C	T	43484438	3	4	49	1	0	0	0	0	1	0	0	0	7072	652	23	1	1701	1	HECW1	7	43484438	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	18778773	43484438	115654225	35	6008											
KCND2	3751	broad.mit.edu	37	chr7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcctcggggcctatgCcggctcccccgaggcaggag	16	15	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGGCCTATGCCGGCTCCCCC	0.632																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(82-84)Ccg>Tcg		potassium voltage-gated channel, Shal-related subfamily, member 2							95	112	106					7																	119914768		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914768C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.82C>T	7.37:g.119914768C>T	ENSP00000333496:p.Pro28Ser						p.P28S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1047	+	all_neural(327;0.117)		28					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.82C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617767	0.87359	.	.	ENSG00000184408	ENST00000331113	D	0.97352	-4.35	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.83953	2.67	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	D	0.98356	1.0546	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	28	Q9NZV8	KCND2_HUMAN	S	28	ENSP00000333496:P28S	.	P	+	1	0	KCND2	119702004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCG		0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		8	860	0	0	0	1	0	8	860					T	119914768	C	T	119914768	3	4	49	1	0	0	0	0	1	0	0	0	8049	739	26	2	84	2	KCND2	7	119914768	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	76430330	119914768	39223895	36	6009											
KRBA1	84626	broad.mit.edu	37	chr7	149421894	149421894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtccctcagccactggAgacaccagaggggtccccca	10	17	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:149421894A>G	ENST00000485033.2	+	8	1080	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	KRBA1_ENST00000255992.10_Silent_p.G360G|KRBA1_ENST00000319551.8_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	360										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCACTGGAGACACCAGAG	0.642																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(1078-1080)ggA>ggG		KRAB-A domain containing 1							16	20	18					7																	149421894		1914	4111	6025	SO:0001819	synonymous_variant	84626							g.chr7:149421894A>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1080A>G	7.37:g.149421894A>G						KRBA1_ENST00000319551.8_Silent_p.G360G|KRBA1_ENST00000485033.2_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR	p.G360G	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		9	1479	+	Melanoma(164;0.165)|Ovarian(565;0.177)		360					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.1080A>G																																																																																					0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		3	58	0	0	0	1	0	3	58					G	149421894	A	G	149421894	2	3	49	1	0	0	0	0	0	0	0	1	8469	291	11	4		4	KRBA1	7	149421894	Silent	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	29507126	149421894	9716769	37	6010											
CSMD1	64478	broad.mit.edu	37	chr8	4494899	4494899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttgaggctgtccatcGtaaactgataaaatatcaaa	7	8	1	2	rs375942865		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:4494899G>A	ENST00000520002.1	-	2	822	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000602557.1_Silent_p.Y89Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTCCATCGTAAACTGATA	0.378																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(265-267)taC>taT		CUB and Sushi multiple domains 1		G		1,3763		0,1,1881	115	116	116		267	-7.2	0	8		116	0,8242		0,0,4121	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6002	AA,AG,GG		0.0,0.0266,0.0083		89/3565	4494899	1,12005	1882	4121	6003	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4494899G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.267C>T	8.37:g.4494899G>A						CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000520002.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y	p.Y89Y			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	822	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	89			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.267C>T																																																																																					0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		23	437	0	0	0	1	0	23	437					A	4494899	G	A	4494899	2	1	49	1	0	0	0	0	0	0	0	1	3955	1140	40	1		1	CSMD1	8	4494899	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		4494899	141869123	38	6011											
SGK223	157285	broad.mit.edu	37	chr8	8176529	8176529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagcaggaagcacacgCgccgctcgtacgcctcgggc	14	15	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:8176529C>T	ENST00000520004.1	-	6	3620	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H			Q86YV5	SG223_HUMAN		1121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GAAGCACACGCGCCGCTCGTA	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3355-3357)cGc>cAc									84	94	90					8																	8176529		2103	4209	6312	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176529C>T																												ENST00000520004.1:c.3356G>A	8.37:g.8176529C>T	ENSP00000428054:p.Arg1119His					SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H	p.R1119H			Q86YV5	SG223_HUMAN			6	3620	-			1119			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3356G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426873	0.83667	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.65178	-0.14;-0.14	5.48	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053692	0.85682	D	0.000000	T	0.68531	0.3011	L	0.36672	1.1	0.44042	D	0.996772	D	0.89917	1.0	D	0.91635	0.999	T	0.69339	-0.5171	10	0.66056	D	0.02	.	10.7678	0.46303	0.0:0.8505:0.0:0.1495	.	1119	Q86YV5	SG223_HUMAN	H	1119	ENSP00000330930:R1119H;ENSP00000428054:R1119H	ENSP00000330930:R1119H	R	-	2	0	AC068353.1	8213939	0.883000	0.30277	1.000000	0.80357	0.979000	0.70002	1.757000	0.38400	2.750000	0.94351	0.467000	0.42956	CGC		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			35	659	0	0	0	1	0	35	659					T	8176529	C	T	8176529	3	4	49	1	0	0	0	0	1	0	0	0	14260	768	27	1	856	1	SGK223	8	8176529	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	3681630	8176529	138187493	39	6012											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	92	0	0	0	1	0	11	92					G	41790659	T	G	41790659	2	3	49	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	33614130	41790659	104573363	40	6013											
MOS	4342	broad.mit.edu	37	chr8	57025548	57025548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatccaccaaaagcagccGcgcgctcggcctctgcgccg	12	17	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:57025548G>A	ENST00000311923.1	-	1	993	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAAAGCAGCCGCGCGCTCGGC	0.572																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(994-996)Cgg>Tgg		v-mos Moloney murine sarcoma viral oncogene homolog							21	24	23					8																	57025548		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025548G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.994C>T	8.37:g.57025548G>A	ENSP00000310722:p.Arg332Trp						p.R332W	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	993	-			332			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.994C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488891	0.64074	.	.	ENSG00000172680	ENST00000311923	T	0.66995	-0.24	5.8	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.731480	0.03583	N	0.230552	T	0.77651	0.4162	L	0.53729	1.69	0.09310	N	1	P	0.51791	0.948	P	0.57057	0.812	T	0.59118	-0.7514	10	0.87932	D	0	.	11.5859	0.50918	0.0:0.8023:0.13:0.0677	.	332	P00540	MOS_HUMAN	W	332	ENSP00000310722:R332W	ENSP00000310722:R332W	R	-	1	2	MOS	57188102	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	0.330000	0.19715	0.818000	0.34468	-0.311000	0.09066	CGG		0.572	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		8	207	0	0	0	1	0	8	207					A	57025548	G	A	57025548	3	1	49	1	0	0	0	0	1	0	0	0	9753	1086	38	1	49	1	MOS	8	57025548	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	15234889	57025548	89338474	41	6014											
TMEM215	401498	broad.mit.edu	37	chr9	32784266	32784266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtttcatgttcaccGtctctgggatgaaaggggag	13	7	4	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:32784266G>A	ENST00000342743.5	+	2	450	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	29						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATGTTCACCGTCTCTGGGAT	0.582																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(85-87)Gtc>Atc		transmembrane protein 215							106	98	101					9																	32784266		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784266G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.85G>A	9.37:g.32784266G>A	ENSP00000345468:p.Val29Ile						p.V29I	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	450	+			29					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.85G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343493	0.41498	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.31	4.39	0.52855	.	0.000000	0.64402	D	0.000011	T	0.40171	0.1106	L	0.27053	0.805	0.42899	D	0.994226	P	0.49635	0.926	B	0.40038	0.317	T	0.44847	-0.9301	9	0.87932	D	0	-24.8349	13.4943	0.61416	0.0:0.1582:0.8418:0.0	.	29	Q68D42	TM215_HUMAN	I	29	.	ENSP00000345468:V29I	V	+	1	0	TMEM215	32774266	1.000000	0.71417	0.869000	0.34112	0.936000	0.57629	7.480000	0.81109	1.185000	0.42971	0.462000	0.41574	GTC		0.582	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		13	261	0	0	0	1	0	13	261					A	32784266	G	A	32784266	3	1	49	1	0	0	0	0	1	0	0	0	16190	1145	40	1	87	1	TMEM215	9	32784266	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		32784266	108429165	42	6015											
RPL12	6136	broad.mit.edu	37	chr9	130213570	130213570	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcacgcaccgactttgatCtcgttggggtcgaacttcgg	13	11	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:130213570C>A	ENST00000361436.5	-	1	114	c.27G>T	c.(25-27)gaG>gaT	p.E9D	LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D|LRSAM1_ENST00000373324.4_5'Flank|RPL12_ENST00000497322.1_5'UTR|LRSAM1_ENST00000323301.4_5'Flank|SNORA65_ENST00000364432.1_RNA	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGACTTTGATCTCGTTGGGGT	0.642																																						ENST00000361436.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(25-27)gaG>gaT		ribosomal protein L12							33	37	36					9																	130213570		2200	4295	6495	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130213570C>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.27G>T	9.37:g.130213570C>A	ENSP00000354739:p.Glu9Asp					RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D	p.E9D	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN			1	114	-			9					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.27G>T	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697336	0.68386	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	1.42	0.22433	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.61515	0.2353	M	0.80508	2.5	0.45318	D	0.998318	B;B	0.17038	0.02;0.002	B;B	0.25987	0.065;0.006	T	0.58364	-0.7649	9	0.51188	T	0.08	0.0134	8.795	0.34874	0.0:0.652:0.0:0.348	.	9;9	P30050-2;P30050	.;RL12_HUMAN	D	9	.	ENSP00000354739:E9D	E	-	3	2	RPL12	129253391	0.929000	0.31497	0.998000	0.56505	0.998000	0.95712	0.418000	0.21230	0.247000	0.21414	0.561000	0.74099	GAG		0.642	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			6	297	1	0	0.00116845	1	0.00120473	6	297					A	130213570	C	A	130213570	3	1	49	1	0	0	0	0	1	0	0	0	13608	912	32	3	498	3	RPL12	9	130213570	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	97429304	130213570	10999861	43	6016											
CERCAM	51148	broad.mit.edu	37	chr9	131186737	131186737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaccaagaaccgccagCgccggggctgcttccgtgtc	11	18	0	1	rs143495365		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:131186737C>T	ENST00000372838.4	+	5	1008	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R126C	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	204					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAACCGCCAGCGCCGGGGCTG	0.647																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(376-378)Cgc>Tgc		cerebral endothelial cell adhesion molecule		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	65	64		610	4.9	1	9	dbSNP_134	64	0,8600		0,0,4300	no	missense	CERCAM	NM_016174.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	204/596	131186737	1,13005	2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186737C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.610C>T	9.37:g.131186737C>T	ENSP00000361929:p.Arg204Cys					CERCAM_ENST00000372838.4_Missense_Mutation_p.R204C	p.R126C			Q5T4B2	GT253_HUMAN			6	3520	+			204					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.376C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	34	5.312852	0.95655	2.27E-4	0.0	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.20738	2.05;2.05;2.05	4.9	4.9	0.64082	.	0.119685	0.56097	D	0.000026	T	0.44540	0.1298	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	P	0.55455	0.776	T	0.52586	-0.8556	10	0.87932	D	0	-2.5648	16.8166	0.85735	0.0:1.0:0.0:0.0	.	204	Q5T4B2	GT253_HUMAN	C	126;126;204;157	ENSP00000361933:R126C;ENSP00000416676:R126C;ENSP00000361929:R204C	ENSP00000361929:R204C	R	+	1	0	CERCAM	130226558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.680000	0.54641	2.543000	0.85770	0.467000	0.42956	CGC		0.647	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		11	278	0	0	0	1	0	11	278					T	131186737	C	T	131186737	3	4	49	1	0	0	0	0	1	0	0	0	3275	768	27	1	628	1	CERCAM	9	131186737	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	973167	131186737	10026694	44	6017											
CUBN	8029	broad.mit.edu	37	chr10	16982060	16982060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcctggaagcccgtgCcgctgccagaaccatctgag	13	13	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:16982060C>T	ENST00000377833.4	-	37	5584	c.5519G>A	c.(5518-5520)gGc>gAc	p.G1840D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1840	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.		G -> S (in dbSNP:rs2271462).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCCCGTGCCGCTGCCAGA	0.413																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5518-5520)gGc>gAc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						143	157	152					10																	16982060		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982060C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5519G>A	10.37:g.16982060C>T	ENSP00000367064:p.Gly1840Asp						p.G1840D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			37	5584	-			1840		G -> S (in dbSNP:rs2271462).	CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5519G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	5.381	0.255505	0.10185	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	6.16	2.85	0.33270	CUB (5);	0.284524	0.25305	N	0.031636	T	0.12902	0.0313	L	0.28400	0.85	0.80722	D	1	B	0.27013	0.166	B	0.32289	0.143	T	0.10683	-1.0619	10	0.30854	T	0.27	.	9.5798	0.39481	0.0:0.6956:0.1232:0.1812	.	1840	O60494	CUBN_HUMAN	D	1840	ENSP00000367064:G1840D	ENSP00000367064:G1840D	G	-	2	0	CUBN	17022066	0.000000	0.05858	0.051000	0.19133	0.016000	0.09150	0.060000	0.14342	0.907000	0.36646	0.650000	0.86243	GGC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	739	0	0	0	1	0	6	739					T	16982060	C	T	16982060	3	4	49	1	0	0	0	0	1	0	0	0	4062	739	26	2	5476	2	CUBN	10	16982060	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		16982060	118552687	45	6018											
CUBN	8029	broad.mit.edu	37	chr10	17145151	17145151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcagttttgataacccaGaagcagttaacatcatgaac	6	8	2	3	rs373833244		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:17145151G>A	ENST00000377833.4	-	13	1568	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	501	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATAACCCAGAAGCAGTTAA	0.358																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1501-1503)ttC>ttT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G		1,4405	2.1+/-5.4	0,1,2202	100	99	99		1503	4.8	1	10		99	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		501/3624	17145151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17145151G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1503C>T	10.37:g.17145151G>A							p.F501F	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			13	1568	-			501			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.1503C>T	CCDS7113.1																																																																																				0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	232	0	0	0	1	0	9	232					A	17145151	G	A	17145151	2	1	49	1	0	0	0	0	0	0	0	1	4062	933	33	2		2	CUBN	10	17145151	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	163091	17145151	118389596	46	6019											
SLC39A12	221074	broad.mit.edu	37	chr10	18292166	18292166	+	Frame_Shift_Del	DEL	G	G	-													catcctgatgaattttataaGctccctaactgccttcatgg							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:18292166delG	ENST00000377369.2	+	12	2099	c.1826delG	c.(1825-1827)agcfs	p.S610fs	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.S609fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	610					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTTATAAGCTCCCTAACT	0.418																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1825-1827)acfs		solute carrier family 39 (zinc transporter), member 12							190	183	185					10																	18292166		2203	4300	6503	SO:0001589	frameshift_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292166delG		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1826delG	10.37:g.18292166delG	ENSP00000366586:p.Ser610fs					SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.S609fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12-AS1_ENST00000439319.1_RNA	p.S610fs	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			12	2099	+			610					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Frame_Shift_Del	DEL	ENST00000377369.2	37	c.1826delG	CCDS44362.1																																																																																				0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		32	675						32	675	---	---	---	---	-	18292166	G	-	18292166	7	5	49	1	0	1	0	1	0	0	0	0	14665	971	34	0	1868	0	SLC39A12	10	18292166	Frame_Shift_Del	DEL	G	TCGA-FB-AAPS-01A-12D-A397-08	1147015	18292166	117242581	47	6020											
C10orf72	196740	broad.mit.edu	37	chr10	50256523	50256523	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcaggccagctccttacCtttggcagggactgcgggag	14	12	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:50256523C>T	ENST00000332853.4	-	6	798	c.775G>A	c.(775-777)Gct>Act	p.A259T		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTCCTTACCTTTGGCAGGG	0.542																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.e6+1		V-set and transmembrane domain containing 4							97	85	89					10																	50256523		2203	4300	6503	SO:0001630	splice_region_variant	196740					integral to membrane|plasma membrane		g.chr10:50256523C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.775+1G>A	10.37:g.50256523C>T							p.A259_splice	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			6	798	-			259					B4DNI6|Q96MX7	Splice_Site	SNP	ENST00000332853.4	37	c.775_splice	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178075	0.94846	.	.	ENSG00000165633	ENST00000332853	T	0.10288	2.89	6.17	6.17	0.99709	.	0.291440	0.37136	N	0.002221	T	0.09423	0.0232	L	0.34521	1.04	0.80722	D	1	P	0.37525	0.598	B	0.32211	0.142	T	0.24764	-1.0151	9	.	.	.	-8.1983	16.3795	0.83443	0.0:1.0:0.0:0.0	.	259	Q8IW00	VSTM4_HUMAN	T	259	ENSP00000331062:A259T	.	A	-	1	0	VSTM4	49926529	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.440000	0.59975	2.941000	0.99782	0.655000	0.94253	GCT		0.542	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	Missense_Mutation	21	416	0	0	0	1	0	21	416					T	50256523	C	T	50256523	5	4	49	1	0	0	0	0	0	0	1	0	1620	695	24	2	199	2	C10orf72	10	50256523	Splice_Site	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	31964357	50256523	85278224	48	6021											
CDH23	414152	broad.mit.edu	37	chr10	73485201	73485201	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccccggcccctggaccGggagcggaactcatcccacg	14	17	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:73485201G>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.R1173Q	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											CCCCTGGACCGGGAGCGGAAC	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3517-3519)cGg>cAg		cadherin-related 23							52	58	56					10																	73485201		2009	4161	6170	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73485201G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-9102C>T	10.37:g.73485201G>A						C10orf105_ENST00000398786.2_Intron	p.R1173Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			29	3523	+			1168			Cadherin 11.			Missense_Mutation	SNP	ENST00000398786.2	37	c.3518G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694989	0.96793	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.86768	0.6012	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.89619	0.3847	9	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	1168;1168	Q6P152;Q9H251	.;CAD23_HUMAN	Q	1173;1168;1171	.	ENSP00000224721:R1173Q	R	+	2	0	CDH23	73155207	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	9.313000	0.96297	2.389000	0.81357	0.655000	0.94253	CGG		0.652	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		23	212	0	0	0	1	0	23	212					A	73485201	G	A	73485201	1	1	49	0	1	0	0	0	0	0	0	0	3117	1116	39	1		1	CDH23	10	73485201	Intron	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	23228678	73485201	62049546	49	6022											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59	70	66					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	438	0	0	0	1	0	5	438					A	75406859	G	A	75406859	3	1	49	1	0	0	0	0	1	0	0	0	15510	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	1921658	75406859	60127888	50	6023											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629160	1629160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactgggagcagctgggCttgcagcagctggactggca	17	10	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:1629160C>T	ENST00000399685.1	-	1	533	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	152	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCAGCTGGGCTTGCAGCAGC	0.637																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(454-456)aaG>aaA		keratin associated protein 5-3							123	136	132					11																	1629160		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629160C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.456G>A	11.37:g.1629160C>T							p.K152K	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	533	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.456G>A	CCDS41591.1																																																																																				0.637	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			8	919	0	0	0	1	0	8	919					T	1629160	C	T	1629160	2	4	49	1	0	0	0	0	0	0	0	1	8593	796	28	2		2	KRTAP5-3	11	1629160	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		1629160	133377356	51	6024											
LGR4	55366	broad.mit.edu	37	chr11	27390249	27390249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaaacagcctgctactGtagcacctaggaaagccaaa	11	10	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:27390249G>A	ENST00000379214.4	-	18	2464	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	674					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCCTGCTACTGTAGCACCTAG	0.438																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2020-2022)aCa>aTa		leucine-rich repeat containing G protein-coupled receptor 4							91	84	86					11																	27390249		2202	4298	6500	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390249G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2021C>T	11.37:g.27390249G>A	ENSP00000368516:p.Thr674Ile					LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	p.T674I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2464	-			674					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2021C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985958	0.00443	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.71103	-0.54;1.32	5.72	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.806293	0.11920	N	0.516808	T	0.45115	0.1326	N	0.03608	-0.345	0.26019	N	0.981899	B;B	0.15930	0.001;0.015	B;B	0.21917	0.004;0.037	T	0.31806	-0.9930	10	0.15952	T	0.53	.	8.7411	0.34558	0.3575:0.0:0.6425:0.0	.	650;674	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	674;650	ENSP00000368516:T674I;ENSP00000374508:T650I	ENSP00000368516:T674I	T	-	2	0	LGR4	27346825	0.499000	0.26083	0.001000	0.08648	0.565000	0.35776	2.094000	0.41719	0.359000	0.24239	-0.142000	0.14014	ACA		0.438	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		19	343	0	0	0	1	0	19	343					A	27390249	G	A	27390249	3	1	49	1	0	0	0	0	1	0	0	0	8788	1377	48	2	838	2	LGR4	11	27390249	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	25761089	27390249	107616267	52	6025											
ALX4	60529	broad.mit.edu	37	chr11	44296947	44296947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccagctgttcccgcGcatacacgtctgggtagtgg	13	12	2	0	rs145166164	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:44296947G>A	ENST00000329255.3	-	2	831	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	243					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A243E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTCCCGCGCATACACGTC	0.617																																						ENST00000329255.3																			1	Substitution - Missense(1)	p.A243E(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(727-729)gCg>gTg		ALX homeobox 4		G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	100	99	99		728	3.7	0.9	11	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ALX4	NM_021926.3	64	0,5,6497	AA,AG,GG		0.0116,0.0908,0.0384	benign	243/412	44296947	5,12999	2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44296947G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.728C>T	11.37:g.44296947G>A	ENSP00000332744:p.Ala243Val						p.A243V	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	831	-			243					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.728C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111519	0.37242	9.08E-4	1.16E-4	ENSG00000052850	ENST00000329255	D	0.95656	-3.77	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.119737	0.56097	D	0.000031	D	0.90324	0.6973	N	0.20685	0.6	0.80722	D	1	B	0.32717	0.381	B	0.33392	0.163	D	0.88558	0.3121	10	0.23302	T	0.38	.	15.7255	0.77756	0.0:0.0:1.0:0.0	.	243	Q9H161	ALX4_HUMAN	V	243	ENSP00000332744:A243V	ENSP00000332744:A243V	A	-	2	0	ALX4	44253523	1.000000	0.71417	0.907000	0.35723	0.183000	0.23260	9.620000	0.98373	1.929000	0.55896	0.455000	0.32223	GCG		0.617	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			6	581	0	0	0	1	0	6	581					A	44296947	G	A	44296947	3	1	49	1	0	0	0	0	1	0	0	0	558	1087	38	1	519	1	ALX4	11	44296947	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	16906698	44296947	90709569	53	6026											
ROBO3	64221	broad.mit.edu	37	chr11	124735524	124735525	+	Frame_Shift_Del	DEL	CT	CT	-													cagatgaacttgttcgcggaCtctctggccggggacatctc							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:124735524_124735525delCT	ENST00000397801.1	+	1	243_244	c.51_52delCT	c.(49-54)gactctfs	p.S18fs	ROBO3_ENST00000538940.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	18					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		TGTTCGCGGACTCTCTGGCCGG	0.663																																						ENST00000397801.1																			0				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						c.(49-54)gactfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)				10,4160		4,2,2079						4.5	1			37	29,8167		14,1,4083	no	frameshift	ROBO3	NM_022370.3		18,3,6162	A1A1,A1R,RR		0.3538,0.2398,0.3154				39,12327				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124735524_124735525delCT	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.51_52delCT	11.37:g.124735528_124735529delCT	ENSP00000380903:p.Ser18fs						p.DS17fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	1	243_244	+	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)	17						Frame_Shift_Del	DEL	ENST00000397801.1	37	c.51_52delCT	CCDS44755.1																																																																																				0.663	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		10	196						10	196	---	---	---	---	-	124735525	CT	-	124735524	7	5	49	1	0	1	0	1	0	0	0	0	13565	564	20	0	53	0	ROBO3	11	124735524	Frame_Shift_Del	DEL	CT	TCGA-FB-AAPS-01A-12D-A397-08	80438577	124735524	10270992	54	6027											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	258	0	0	0	1	0	13	258					T	25398284	C	T	25398284	3	4	49	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		25398284	108453611	55	6028											
LRP1	4035	broad.mit.edu	37	chr12	57598946	57598946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaaggagtttctgtgccGgaaccagcgctgcctctcct	11	13	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:57598946G>A	ENST00000243077.3	+	73	11715	c.11249G>A	c.(11248-11250)cGg>cAg	p.R3750Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3750	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTCTGTGCCGGAACCAGCGC	0.637																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11248-11250)cGg>cAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						93	87	89					12																	57598946		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598946G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11249G>A	12.37:g.57598946G>A	ENSP00000243077:p.Arg3750Gln						p.R3750Q	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	73	11715	+			3750			LDL-receptor class A 31.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11249G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090216	0.36855	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	4.69	1.8	0.24995	Growth factor, receptor (1);	0.834326	0.10347	N	0.685604	D	0.84866	0.5567	N	0.04297	-0.235	0.42668	D	0.993508	B	0.15473	0.013	B	0.10450	0.005	T	0.73436	-0.3983	10	0.14656	T	0.56	.	3.2244	0.06726	0.2594:0.0:0.4241:0.3166	.	3750	Q07954	LRP1_HUMAN	Q	3750	ENSP00000243077:R3750Q	ENSP00000243077:R3750Q	R	+	2	0	LRP1	55885213	0.001000	0.12720	0.983000	0.44433	0.890000	0.51754	0.497000	0.22514	0.284000	0.22305	-0.136000	0.14681	CGG		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	490	0	0	0	1	0	5	490					A	57598946	G	A	57598946	3	1	49	1	0	0	0	0	1	0	0	0	8989	1116	39	1	11539	1	LRP1	12	57598946	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	32200662	57598946	76252949	56	6029											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100466468	100466468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttggaaaatcctttccatCtggatagtaatattctgtga	7	7	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:100466468C>T	ENST00000279907.7	-	12	1743	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	511										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						TCCTTTCCATCTGGATAGTAA	0.274																																						ENST00000279907.7																			0				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						c.(1531-1533)Gat>Aat		UHRF1 binding protein 1-like							59	67	64					12																	100466468		2201	4298	6499	SO:0001583	missense	23074							g.chr12:100466468C>T		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.1531G>A	12.37:g.100466468C>T	ENSP00000279907:p.Asp511Asn					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N	p.D511N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			12	1743	-			511					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1531G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308215	0.95629	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045	T;T;T	0.38077	2.71;2.67;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.985	T	0.65240	-0.6216	10	0.72032	D	0.01	-21.0396	19.7072	0.96079	0.0:1.0:0.0:0.0	.	511;511	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	N	511;161;511;100	ENSP00000279907:D511N;ENSP00000444824:D161N;ENSP00000349285:D511N	ENSP00000279907:D511N	D	-	1	0	UHRF1BP1L	98990599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.662000	0.90505	0.591000	0.81541	GAT		0.274	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		13	265	0	0	0	1	0	13	265					T	100466468	C	T	100466468	3	4	49	1	0	0	0	0	1	0	0	0	17023	913	32	2	2927	2	UHRF1BP1L	12	100466468	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	42867522	100466468	33385427	57	6030											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	788	0	0	0	1	0	6	788					A	123780522	G	A	123780522	3	1	49	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	23314054	123780522	10071373	58	6031											
FLT1	2321	broad.mit.edu	37	chr13	28979946	28979946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctattattgccatgcGctgagtgatgctctcaattc	7	11	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:28979946G>A	ENST00000282397.4	-	11	1773	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	FLT1_ENST00000539099.1_Missense_Mutation_p.R508C|FLT1_ENST00000541932.1_Missense_Mutation_p.R508C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	508	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGCCATGCGCTGAGTGATG	0.368																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1522-1524)Cgc>Tgc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						186	178	180					13																	28979946		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28979946G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1522C>T	13.37:g.28979946G>A	ENSP00000282397:p.Arg508Cys					FLT1_ENST00000539099.1_Missense_Mutation_p.R508C|FLT1_ENST00000541932.1_Missense_Mutation_p.R508C	p.R508C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	11	1773	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	508			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1522C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636046	0.67130	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.67865	0.84;0.84;-0.29	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.055814	0.64402	D	0.000001	D	0.82770	0.5109	M	0.83953	2.67	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	0.83449	0.0047	10	0.52906	T	0.07	.	15.5699	0.76326	0.0:0.0:0.7984:0.2016	.	508;508;508;508	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	C	508	ENSP00000282397:R508C;ENSP00000437631:R508C;ENSP00000442630:R508C	ENSP00000282397:R508C	R	-	1	0	FLT1	27877946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.197000	0.42696	2.854000	0.98071	0.655000	0.94253	CGC		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			20	347	0	0	0	1	0	20	347					A	28979946	G	A	28979946	3	1	49	1	0	0	0	0	1	0	0	0	5966	1087	38	1	2837	1	FLT1	13	28979946	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		28979946	86189932	59	6032											
MTUS2	23281	broad.mit.edu	37	chr13	29599068	29599068	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacccatttccataaggaatTtcaccaacttcagggctttg	6	11	2	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:29599068T>A	ENST00000431530.3	+	1	321	c.263T>A	c.(262-264)tTt>tAt	p.F88Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	78						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATAAGGAATTTCACCAACTT	0.453																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(262-264)tTt>tAt		microtubule associated tumor suppressor candidate 2							35	34	34					13																	29599068		1827	4077	5904	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599068T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.263T>A	13.37:g.29599068T>A	ENSP00000392057:p.Phe88Tyr						p.F88Y	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	321	+			78					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.263T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	8.487	0.861180	0.17178	.	.	ENSG00000132938	ENST00000431530	T	0.12672	2.66	5.37	-0.252	0.12999	.	0.731038	0.11928	N	0.515982	T	0.08179	0.0204	L	0.36672	1.1	0.09310	N	1	P	0.34757	0.467	B	0.34138	0.176	T	0.29058	-1.0024	9	.	.	.	.	0.7446	0.00980	0.2493:0.3104:0.1316:0.3087	.	78	Q5JR59	MTUS2_HUMAN	Y	88	ENSP00000392057:F88Y	.	F	+	2	0	MTUS2	28497068	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.521000	0.22893	-0.033000	0.13736	-0.418000	0.06021	TTT		0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		12	167	0	0	0	1	0	12	167					A	29599068	T	A	29599068	3	1	49	1	0	0	0	0	1	0	0	0	10007	1841	64	5	265	5	MTUS2	13	29599068	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	619122	29599068	85570810	60	6033											
FREM2	341640	broad.mit.edu	37	chr13	39425162	39425162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccgcctggtactcgGcactccacaaagcaactctc	9	16	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:39425162G>A	ENST00000280481.7	+	10	6875	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2220	Calx-beta 4.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTACTCGGCACTCCACAA	0.468																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6658-6660)gGc>gAc		FRAS1 related extracellular matrix protein 2							96	89	91					13																	39425162		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425162G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6659G>A	13.37:g.39425162G>A	ENSP00000280481:p.Gly2220Asp						p.G2220D	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	6875	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2220			Calx-beta 4.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6659G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725627	0.68959	.	.	ENSG00000150893	ENST00000280481	T	0.27890	1.64	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68678	-0.5345	10	0.87932	D	0	.	19.0387	0.92989	0.0:0.0:1.0:0.0	.	2220;2220	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	D	2220	ENSP00000280481:G2220D	ENSP00000280481:G2220D	G	+	2	0	FREM2	38323162	1.000000	0.71417	0.291000	0.24904	0.025000	0.11179	9.457000	0.97630	2.749000	0.94314	0.650000	0.86243	GGC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	414	0	0	0	1	0	5	414					A	39425162	G	A	39425162	3	1	49	1	0	0	0	0	1	0	0	0	6072	1203	42	2	6697	2	FREM2	13	39425162	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	9826094	39425162	75744716	61	6034											
MYO16	23026	broad.mit.edu	37	chr13	109859074	109859074	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagatcctgcaccacgctGagcccagggtgcctccccca	10	18	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:109859074G>A	ENST00000357550.2	+	34	5508	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1823K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCACCACGCTGAGCCCAGGGT	0.602																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5467-5469)Gag>Aag		myosin XVI							61	57	58					13																	109859074		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859074G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5467G>A	13.37:g.109859074G>A	ENSP00000350160:p.Glu1823Lys					MYO16_ENST00000357550.2_Missense_Mutation_p.E1823K	p.E1823K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		35	5593	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1823						Missense_Mutation	SNP	ENST00000357550.2	37	c.5467G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016418	0.54468	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.82344	-1.6;-1.6	4.34	4.34	0.51931	.	0.000000	0.40818	U	0.001003	D	0.84023	0.5381	L	0.53249	1.67	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	D	0.83751	0.0209	9	.	.	.	.	14.1841	0.65592	0.0:0.0:1.0:0.0	.	1823	Q9Y6X6	MYO16_HUMAN	K	1823	ENSP00000349145:E1823K;ENSP00000350160:E1823K	.	E	+	1	0	MYO16	108657075	1.000000	0.71417	0.914000	0.36105	0.088000	0.18126	6.105000	0.71505	2.248000	0.74166	0.563000	0.77884	GAG		0.602	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		20	181	0	0	0	1	0	20	181					A	109859074	G	A	109859074	3	1	49	1	0	0	0	0	1	0	0	0	10105	1291	45	2	5601	2	MYO16	13	109859074	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	70433912	109859074	5310804	62	6035											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		12	836						12	836	---	---	---	---	-	21961062	GCT	-	21961060	7	5	49	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-FB-AAPS-01A-12D-A397-08		21961060	85388480	63	6036											
PTGER2	5732	broad.mit.edu	37	chr14	52781689	52781689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctcgatcgggcacccCtacttctaccagcgccgcgt	8	18	2	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:52781689C>T	ENST00000245457.5	+	1	577	c.423C>T	c.(421-423)ccC>ccT	p.P141P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCGGGCACCCCTACTTCTACC	0.642																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(421-423)ccC>ccT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						58	61	60					14																	52781689		2201	4299	6500	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781689C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.423C>T	14.37:g.52781689C>T						PTGER2_ENST00000557436.1_Intron	p.P141P	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	577	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		141					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.423C>T	CCDS9708.1																																																																																				0.642	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			17	376	0	0	0	1	0	17	376					T	52781689	C	T	52781689	2	4	49	1	0	0	0	0	0	0	0	1	12791	668	24	2		2	PTGER2	14	52781689	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	30820629	52781689	54567851	64	6037											
SMOC1	64093	broad.mit.edu	37	chr14	70418995	70418995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgagacccgaccctgggCgtggtgcatcgaggtagatg	16	11	0	2	rs111874562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:70418995C>T	ENST00000381280.4	+	2	493	c.240C>T	c.(238-240)ggC>ggT	p.G80G	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	80	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACCCTGGGCGTGGTGCATC	0.597																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(238-240)ggC>ggT		SPARC related modular calcium binding 1							107	93	98					14																	70418995		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418995C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.240C>T	14.37:g.70418995C>T						SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	493	+			80			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.240C>T	CCDS9798.1																																																																																				0.597	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			12	296	0	0	0	1	0	12	296					T	70418995	C	T	70418995	2	4	49	1	0	0	0	0	0	0	0	1	14851	755	27	1		1	SMOC1	14	70418995	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	17637306	70418995	36930545	65	6038											
KCNK10	54207	broad.mit.edu	37	chr14	88729828	88729828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggagttggagtcggagcCggagccgggggttgcccgtt	20	10	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:88729828C>T	ENST00000340700.5	-	2	556	c.105G>A	c.(103-105)ccG>ccA	p.P35P	KCNK10_ENST00000319231.5_Silent_p.P40P|KCNK10_ENST00000312350.5_Silent_p.P40P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	35					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTCGGAGCCGGAGCCGGGG	0.642																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(103-105)ccG>ccA		potassium channel, subfamily K, member 10							52	58	56					14																	88729828		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729828C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.105G>A	14.37:g.88729828C>T						KCNK10_ENST00000312350.5_Silent_p.P40P|KCNK10_ENST00000319231.5_Silent_p.P40P	p.P35P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			2	556	-			35					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.105G>A	CCDS9880.1																																																																																				0.642	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		7	565	0	0	0	1	0	7	565					T	88729828	C	T	88729828	2	4	49	1	0	0	0	0	0	0	0	1	8089	639	23	1		1	KCNK10	14	88729828	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	18310833	88729828	18619712	66	6039											
ATG2B	55102	broad.mit.edu	37	chr14	96779761	96779761	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttcatcagcaatattcaaGaagtataaaatctataatca	5	6	5	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:96779761G>T	ENST00000359933.4	-	24	4547	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1218					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAATATTCAAGAAGTATAAAA	0.303																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3652-3654)ttC>ttA		autophagy related 2B							43	44	44					14																	96779761		2203	4292	6495	SO:0001583	missense	55102							g.chr14:96779761G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3654C>A	14.37:g.96779761G>T	ENSP00000353010:p.Phe1218Leu						p.F1218L	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	24	4547	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1218					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3654C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122650	0.77436	.	.	ENSG00000066739	ENST00000359933	T	0.11169	2.8	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	M	0.71036	2.16	0.58432	D	0.999994	D	0.69078	0.997	D	0.70716	0.97	T	0.01587	-1.1318	10	0.40728	T	0.16	.	7.5215	0.27631	0.2796:0.0:0.7204:0.0	.	1218	Q96BY7	ATG2B_HUMAN	L	1218	ENSP00000353010:F1218L	ENSP00000353010:F1218L	F	-	3	2	ATG2B	95849514	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.278000	0.51662	1.394000	0.46624	0.655000	0.94253	TTC		0.303	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		17	284	1	0	1.99824e-07	1	2.14005e-07	17	284					T	96779761	G	T	96779761	3	4	49	1	0	0	0	0	1	0	0	0	1095	933	33	3	2658	3	ATG2B	14	96779761	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	8049933	96779761	10569779	67	6040											
ASPG	374569	broad.mit.edu	37	chr14	104570767	104570767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcggcctggtcatcGtcaactgtacccactgcctc	10	17	2	0	rs373529574		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:104570767G>A	ENST00000551177.1	+	8	972	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ASPG_ENST00000546892.2_Missense_Mutation_p.V294I|ASPG_ENST00000455920.2_Missense_Mutation_p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	294	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTGGTCATCGTCAACTGTAC	0.657																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(880-882)Gtc>Atc		asparaginase homolog (S. cerevisiae)		G	ILE/VAL	1,4279		0,1,2139	33	43	40		880	-0.3	0.9	14		40	0,8512		0,0,4256	no	missense	ASPG	NM_001080464.2	29	0,1,6395	AA,AG,GG		0.0,0.0234,0.0078	benign	294/574	104570767	1,12791	2140	4256	6396	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570767G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.880G>A	14.37:g.104570767G>A	ENSP00000450040:p.Val294Ile					ASPG_ENST00000546892.2_Missense_Mutation_p.V294I|ASPG_ENST00000455920.2_Missense_Mutation_p.V294I	p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			8	972	+			294			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.880G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089554	0.20390	2.34E-4	0.0	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.32988	1.43;1.43;1.43	4.1	-0.315	0.12746	.	0.591503	0.16314	N	0.219861	T	0.17280	0.0415	L	0.40543	1.245	0.31470	N	0.668549	P;B;B;B	0.35542	0.508;0.097;0.303;0.239	B;B;B;B	0.28385	0.089;0.026;0.021;0.058	T	0.18840	-1.0324	10	0.27082	T	0.32	-10.5745	5.8295	0.18572	0.186:0.5239:0.2901:0.0	.	294;294;294;322	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	I	294;322;294;294	ENSP00000450040:V294I;ENSP00000448911:V294I;ENSP00000389003:V294I	ENSP00000299234:V322I	V	+	1	0	ASPG	103640520	0.000000	0.05858	0.875000	0.34327	0.497000	0.33675	-0.095000	0.11077	-0.132000	0.11557	0.462000	0.41574	GTC		0.657	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		5	251	0	0	0	1	0	5	251					A	104570767	G	A	104570767	3	1	49	1	0	0	0	0	1	0	0	0	1053	1145	40	1	910	1	ASPG	14	104570767	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	7791006	104570767	2778773	68	6041											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109604	42109604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagtgatgggcaagtccGcatgatcagctgtggagcag	15	9	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:42109604G>A	ENST00000456763.2	+	16	1944	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R577H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGGCAAGTCCGCATGATCAGC	0.612																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1729-1731)cGc>cAc		mitogen-activated protein kinase binding protein 1							93	76	81					15																	42109604		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109604G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1748G>A	15.37:g.42109604G>A	ENSP00000393099:p.Arg583His					MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R583H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H	p.R577H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	2016	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	583					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1730G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	32	5.110217	0.94292	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.67	5.67	0.87782	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	0.71443	0.3340	L	0.43152	1.355	0.51767	D	0.99993	D;D;D;P;P	0.89917	1.0;0.999;1.0;0.92;0.892	D;D;D;P;P	0.79108	0.992;0.921;0.977;0.658;0.452	T	0.71705	-0.4512	10	0.59425	D	0.04	-17.6502	19.7785	0.96405	0.0:0.0:1.0:0.0	.	416;460;577;583;577	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	577;460;416;583;577	ENSP00000397570:R577H;ENSP00000221214:R460H;ENSP00000260357:R416H;ENSP00000393099:R583H;ENSP00000426154:R577H	ENSP00000221214:R460H	R	+	2	0	MAPKBP1	39896896	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.059000	0.89462	2.667000	0.90743	0.563000	0.77884	CGC		0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	355	0	0	0	1	0	5	355					A	42109604	G	A	42109604	3	1	49	1	0	0	0	0	1	0	0	0	9333	1087	38	1	1806	1	MAPKBP1	15	42109604	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		42109604	60421788	69	6042											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	384						8	384	---	---	---	---	-	59144134	GCT	-	59144132	7	5	49	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-FB-AAPS-01A-12D-A397-08	17034528	59144132	43387260	70	6043											
FSD2	123722	broad.mit.edu	37	chr15	83438550	83438550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggggccagccctgtTgtgagctgtgacccaaaatt	15	10	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:83438550T>C	ENST00000334574.8	-	8	1535	c.1354A>G	c.(1354-1356)Aac>Gac	p.N452D	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	452	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCAGCCCTGTTGTGAGCTGTG	0.478																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(1354-1356)Aac>Gac		fibronectin type III and SPRY domain containing 2							95	94	94					15																	83438550		1856	4100	5956	SO:0001583	missense	123722							g.chr15:83438550T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1354A>G	15.37:g.83438550T>C	ENSP00000335651:p.Asn452Asp					FSD2_ENST00000541889.1_Intron	p.N452D			A1L4K1	FSD2_HUMAN			8	1535	-			452			Fibronectin type-III 1.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.1354A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843035	0.91197	.	.	ENSG00000186628	ENST00000334574	T	0.61859	0.07	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78298	-0.2258	10	0.52906	T	0.07	-44.4125	15.3589	0.74453	0.0:0.0:0.0:1.0	.	452	A1L4K1	FSD2_HUMAN	D	452	ENSP00000335651:N452D	ENSP00000335651:N452D	N	-	1	0	FSD2	81235604	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.299000	0.78831	2.225000	0.72522	0.459000	0.35465	AAC		0.478	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		30	293	0	0	0	1	0	30	293					C	83438550	T	C	83438550	3	2	49	1	0	0	0	0	1	0	0	0	6098	1812	63	4	919	4	FSD2	15	83438550	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	24294418	83438550	19092842	71	6044											
MPG	4350	broad.mit.edu	37	chr16	133094	133094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacagaactccgaggccGcatcgtggagaccgaggcat	14	12	0	2	rs202188306		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:133094G>A	ENST00000219431.4	+	4	590	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_ENST00000397817.1_Missense_Mutation_p.R103H|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	120			R -> C (in dbSNP:rs2308313).		base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		17831	0.0		0.001	False		,,,				2504	0.0					ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(358-360)cGc>cAc	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							113	119	117					16																	133094		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133094G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.359G>A	16.37:g.133094G>A	ENSP00000219431:p.Arg120His					MPG_ENST00000397817.1_Missense_Mutation_p.R103H	p.R120H	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	590	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	120		R -> C (in dbSNP:rs2308313).			G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.359G>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473052	0.63737	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.88	4.88	0.63580	Formyl transferase, C-terminal-like (1);	0.101722	0.64402	D	0.000004	T	0.59636	0.2208	H	0.95114	3.625	0.46981	D	0.999276	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.974;0.979;0.974	T	0.73366	-0.4005	10	0.72032	D	0.01	-15.6548	17.1905	0.86878	0.0:0.0:1.0:0.0	.	103;115;120	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	H	103;103;115;120	ENSP00000388097:R103H;ENSP00000380918:R103H;ENSP00000348809:R115H;ENSP00000219431:R120H	ENSP00000219431:R120H	R	+	2	0	MPG	73094	1.000000	0.71417	0.967000	0.41034	0.487000	0.33371	4.328000	0.59253	2.529000	0.85273	0.462000	0.41574	CGC		0.637	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			6	737	0	0	0	1	0	6	737					A	133094	G	A	133094	3	1	49	1	0	0	0	0	1	0	0	0	9765	1087	38	1	397	1	MPG	16	133094	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		133094	90221659	72	6045											
NAGPA	51172	broad.mit.edu	37	chr16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-													cgtgtgcagtcccgggggagGcgcgcgcgcgcgcgtggata							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		9	133						9	133	---	---	---	---	-	5083679	GC	-	5083678	7	5	49	1	0	1	0	1	0	0	0	0	10185	1190	42	0	1445	0	NAGPA	16	5083678	Frame_Shift_Del	DEL	GC	TCGA-FB-AAPS-01A-12D-A397-08	4950584	5083678	85271075	73	6046											
ZFHX3	463	broad.mit.edu	37	chr16	72822441	72822441	+	Frame_Shift_Del	DEL	T	T	-													cccctttccctttgtgtgccTtttccttctcctttactttc							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:72822441delT	ENST00000268489.5	-	10	10406	c.9734delA	c.(9733-9735)aagfs	p.K3245fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3245					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)			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)				TTTGTGTGCCTTTTCCTTCTC	0.617																																						ENST00000268489.5																			0				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						c.(9733-9735)agfs		zinc finger homeobox 3							161	173	169					16																	72822441		2198	4300	6498	SO:0001589	frameshift_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.chr16:72822441delT	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.9734delA	16.37:g.72822441delT	ENSP00000268489:p.Lys3245fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs	p.K3245fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10406	-		Ovarian(137;0.13)	3245					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.9734delA	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	888						7	888	---	---	---	---	-	72822441	T	-	72822441	7	5	49	1	0	1	0	1	0	0	0	0	17687	1609	56	0	1381	0	ZFHX3	16	72822441	Frame_Shift_Del	DEL	T	TCGA-FB-AAPS-01A-12D-A397-08	67738763	72822441	17532312	74	6047											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2	rs370258691		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177	179	179		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val					ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	p.A445V			O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		76	1024	0	0	0	1	0	76	1024					T	84476138	C	T	84476138	3	4	49	1	0	0	0	0	1	0	0	0	1145	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	11653697	84476138	5878615	75	6048											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1	rs587780070		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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)	ENST00000420246.2		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"		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR	p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	306	0	0	0	1	0	24	306					A	7578395	G	A	7578395	3	1	49	1	0	0	0	0	1	0	0	0	16434	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		7578395	73616815	76	6049											
RDM1	201299	broad.mit.edu	37	chr17	34257116	34257116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagctgcttccggtcGcatgccttttgggctctgtg	12	10	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:34257116G>A	ENST00000293273.6	-	2	285	c.240C>T	c.(238-240)tgC>tgT	p.C80C	RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C|RDM1_ENST00000430160.2_Silent_p.C57C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000394529.3_Silent_p.C57C	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	80	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCCGGTCGCATGCCTTTT	0.483								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(169-171)tgC>tgT	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							110	121	117					17																	34257116		2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34257116G>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.240C>T	17.37:g.34257116G>A						RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C|RDM1_ENST00000293273.6_Silent_p.C80C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000430160.2_Silent_p.C57C	p.C57C	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	1	657	-		Ovarian(249;0.17)	80			Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.171C>T	CCDS11301.1																																																																																				0.483	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		6	817	0	0	0	1	0	6	817					A	34257116	G	A	34257116	2	1	49	1	0	0	0	0	0	0	0	1	13247	1079	38	1		1	RDM1	17	34257116	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	26678721	34257116	46938094	77	6050											
TUBG1	7283	broad.mit.edu	37	chr17	40767013	40767013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcgatgagtaccatgCggccacacggccagactaca	10	14	1	2	rs375839941		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:40767013C>T	ENST00000251413.3	+	11	1372	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	437					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GAGTACCATGCGGCCACACGG	0.577																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1309-1311)gCg>gTg		tubulin, gamma 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96	94	95		1310	5	1	17		95	0,8600		0,0,4300	no	missense	TUBG1	NM_001070.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	437/452	40767013	1,13005	2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40767013C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1310C>T	17.37:g.40767013C>T	ENSP00000251413:p.Ala437Val						p.A437V	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1372	+		Breast(137;0.00116)	437					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1310C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912393	0.72983	2.27E-4	0.0	ENSG00000131462	ENST00000251413	D	0.84873	-1.91	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.83008	0.5161	M	0.82517	2.595	0.80722	D	1	P	0.46621	0.881	B	0.20184	0.028	D	0.87729	0.2578	10	0.72032	D	0.01	-12.5776	18.361	0.90374	0.0:1.0:0.0:0.0	.	437	P23258	TBG1_HUMAN	V	437	ENSP00000251413:A437V	ENSP00000251413:A437V	A	+	2	0	TUBG1	38020539	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	7.794000	0.85869	2.339000	0.79563	0.563000	0.77884	GCG		0.577	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		5	372	0	0	0	1	0	5	372					T	40767013	C	T	40767013	3	4	49	1	0	0	0	0	1	0	0	0	16818	768	27	1	1352	1	TUBG1	17	40767013	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	6509897	40767013	40428197	78	6051											
AOC3	8639	broad.mit.edu	37	chr17	41006599	41006599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaggccgccttcctcGtgggaagcgccacccctcgc	13	17	0	0	rs151291423		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:41006599G>A	ENST00000308423.2	+	2	1895	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	579					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGCCTTCCTCGTGGGAAGCGC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16238	0.001		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1735-1737)Gtg>Atg		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	41	38	39		1735	-2.9	0.9	17	dbSNP_134	39	0,8600		0,0,4300	no	missense	AOC3	NM_003734.2	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	579/764	41006599	2,13004	2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41006599G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1735G>A	17.37:g.41006599G>A	ENSP00000312326:p.Val579Met					AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	p.V579M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1895	+		Breast(137;0.000143)	579					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1735G>A	CCDS11444.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.783	0.513399	0.12944	4.54E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04119	3.7	5.32	-2.88	0.05682	Copper amine oxidase, C-terminal (3);	0.357546	0.26549	N	0.023746	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.39292	-0.9621	10	0.39692	T	0.17	.	2.3969	0.04392	0.3096:0.3338:0.2405:0.1161	.	579	Q16853	AOC3_HUMAN	M	579	ENSP00000312326:V579M	ENSP00000312326:V579M	V	+	1	0	AOC3	38260125	0.001000	0.12720	0.879000	0.34478	0.007000	0.05969	0.172000	0.16704	-0.045000	0.13468	-1.127000	0.01993	GTG		0.652	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		13	238	0	0	0	1	0	13	238					A	41006599	G	A	41006599	3	1	49	1	0	0	0	0	1	0	0	0	728	1145	40	1	1741	1	AOC3	17	41006599	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	239586	41006599	40188611	79	6052											
AMZ2	51321	broad.mit.edu	37	chr17	66251858	66251858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagactttaacccatgagatCggacacatatttggactgcg	9	10	0	2	rs138911562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:66251858C>T	ENST00000359904.3	+	6	1900	c.768C>T	c.(766-768)atC>atT	p.I256I	AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	256							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCATGAGATCGGACACATAT	0.478																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(766-768)atC>atT		archaelysin family metallopeptidase 2		C	,,,,,	0,4406		0,0,2203	121	108	113		768,768,768,768,594,768	-6.7	0.8	17	dbSNP_134	113	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMZ2	NM_001033569.1,NM_001033570.1,NM_001033571.1,NM_001033572.1,NM_001033574.1,NM_016627.4	,,,,,	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,,,,,	256/361,256/361,256/361,256/361,198/303,256/361	66251858	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251858C>T	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.768C>T	17.37:g.66251858C>T						AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron	p.I256I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1900	+	all_cancers(12;1.12e-09)		256					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Silent	SNP	ENST00000359904.3	37	c.768C>T	CCDS11674.1																																																																																				0.478	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		5	421	0	0	0	1	0	5	421					T	66251858	C	T	66251858	2	4	49	1	0	0	0	0	0	0	0	1	597	874	31	1		1	AMZ2	17	66251858	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	25245259	66251858	14943352	80	6053											
NAPG	8774	broad.mit.edu	37	chr18	10530778	10530778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattctagcctgaaaactgGttttttaaaatggaagccag	8	7	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr18:10530778G>T	ENST00000322897.6	+	2	137	c.68G>T	c.(67-69)gGt>gTt	p.G23V	NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	23					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						CTGAAAACTGGTTTTTTAAAA	0.353																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(67-69)gGt>gTt		N-ethylmaleimide-sensitive factor attachment protein, gamma							127	121	123					18																	10530778		1825	4066	5891	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10530778G>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.68G>T	18.37:g.10530778G>T	ENSP00000324628:p.Gly23Val					NAPG_ENST00000542979.1_Intron	p.G23V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			2	137	+			23					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.68G>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697849	0.48307	.	.	ENSG00000134265	ENST00000322897	T	0.38240	1.15	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.139931	0.64402	D	0.000004	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	P	0.44429	0.835	P	0.44477	0.451	T	0.15464	-1.0436	10	0.66056	D	0.02	-4.1077	19.4084	0.94658	0.0:0.0:1.0:0.0	.	23	Q99747	SNAG_HUMAN	V	23	ENSP00000324628:G23V	ENSP00000324628:G23V	G	+	2	0	NAPG	10520778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.009000	0.93606	2.820000	0.97059	0.650000	0.86243	GGT		0.353	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		5	49	1	0	3.59834e-05	1	3.73327e-05	5	49					T	10530778	G	T	10530778	3	4	49	1	0	0	0	0	1	0	0	0	10205	1261	44	3	74	3	NAPG	18	10530778	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		10530778	67546470	81	6054											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		7	845	0	0	0	1	0	7	845					A	16006353	G	A	16006353	2	1	49	1	0	0	0	0	0	0	0	1	4199	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		16006353	43122630	82	6055											
ANO8	57719	broad.mit.edu	37	chr19	17435547	17435547	+	Frame_Shift_Del	DEL	G	G	-													tgagccttcctcttcgggccGgggggcttccagctcctcag					rs199523416		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17435547delG	ENST00000159087.4	-	17	3468	c.3310delC	c.(3310-3312)cggfs	p.R1104fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1104					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCTTCGGGCCGGGGGGCTTCC	0.711																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(3310-3312)ggfs		anoctamin 8							33	42	39					19																	17435547		2030	4111	6141	SO:0001589	frameshift_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17435547delG	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3310delC	19.37:g.17435547delG	ENSP00000159087:p.Arg1104fs						p.R1104fs	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	3468	-			1104					A6NIJ0	Frame_Shift_Del	DEL	ENST00000159087.4	37	c.3310delC	CCDS32949.1																																																																																				0.711	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		8	911						8	911	---	---	---	---	-	17435547	G	-	17435547	7	5	49	1	0	1	0	1	0	0	0	0	703	1115	39	0	396	0	ANO8	19	17435547	Frame_Shift_Del	DEL	G	TCGA-FB-AAPS-01A-12D-A397-08	1429194	17435547	41693436	83	6056											
NXNL1	115861	broad.mit.edu	37	chr19	17571500	17571500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagaactcatctgtgagcCgcacgaagaagtccttgagg	11	10	2	4	rs371790764		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17571500C>T	ENST00000301944.2	-	1	263	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	60	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ATCTGTGAGCCGCACGAAGAA	0.612																																						ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(178-180)cGg>cAg		nucleoredoxin-like 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77	73	74		179	1.6	0.9	19		74	0,8600		0,0,4300	no	missense	NXNL1	NM_138454.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	60/213	17571500	1,13005	2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571500C>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"thioredoxin-like 6"	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.179G>A	19.37:g.17571500C>T	ENSP00000305631:p.Arg60Gln					CTD-2521M24.10_ENST00000594663.1_5'UTR	p.R60Q	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN			1	263	-			60			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.179G>A	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	c	10.87	1.472826	0.26423	2.27E-4	0.0	ENSG00000171773	ENST00000301944	T	0.80123	-1.34	3.92	1.63	0.23807	Thioredoxin-like fold (3);	0.201829	0.37012	N	0.002283	T	0.55353	0.1915	N	0.16708	0.43	0.29006	N	0.887146	P	0.49635	0.926	B	0.33339	0.162	T	0.55805	-0.8083	10	0.25106	T	0.35	-24.7216	7.195	0.25847	0.0:0.7457:0.0:0.2543	.	60	Q96CM4	NXNL1_HUMAN	Q	60	ENSP00000305631:R60Q	ENSP00000305631:R60Q	R	-	2	0	NXNL1	17432500	0.000000	0.05858	0.919000	0.36401	0.529000	0.34654	0.379000	0.20585	0.860000	0.35481	0.467000	0.42956	CGG		0.612	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		21	326	0	0	0	1	0	21	326					T	17571500	C	T	17571500	3	4	49	1	0	0	0	0	1	0	0	0	10830	652	23	1	467	1	NXNL1	19	17571500	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	135953	17571500	41557483	84	6057											
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4																			0											c.(1081-1083)caG>caA		zinc finger protein 254							57	58	58					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A						ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	365	0	0	0	1	0	5	365					A	24309885	G	A	24309885	2	1	49	1	0	0	0	0	0	0	0	1	17851	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	6738385	24309885	34819098	85	6058											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	7	9	2	2	rs554981870		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	317	0	0	0	1	0	5	317					G	24310294	T	G	24310294	3	3	49	1	0	0	0	0	1	0	0	0	17851	1435	50	4	1506	4	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	409	24310294	34818689	86	6059											
MLL4	9757	broad.mit.edu	37	chr19	36216703	36216703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatccaacccgggccacgcGcaaacggcgccactgggtga	12	16	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36216703G>A	ENST00000222270.7	+	13	3869	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1290H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1290					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGGGCCACGCGCAAACGGCGC	0.607																																						ENST00000420124.1																			0											c.(3868-3870)cGc>cAc									20	24	23					19																	36216703		2030	4178	6208	SO:0001583	missense	0							g.chr19:36216703G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3869G>A	19.37:g.36216703G>A	ENSP00000222270:p.Arg1290His					WBP7_ENST00000222270.7_Missense_Mutation_p.R1290H|KMT2B_ENST00000607650.1_RNA	p.R1290H							13	3869	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3869G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440563	0.63067	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84660	-1.88;-1.88	5.17	5.17	0.71159	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45126	D	0.000384	D	0.87208	0.6120	N	0.24115	0.695	0.45087	D	0.998103	D	0.89917	1.0	D	0.71870	0.975	D	0.88069	0.2799	10	0.52906	T	0.07	.	17.613	0.88059	0.0:0.0:1.0:0.0	.	1290	Q9UMN6	MLL4_HUMAN	H	1290	ENSP00000222270:R1290H;ENSP00000398837:R1290H	ENSP00000222270:R1290H	R	+	2	0	AD000671.1	40908543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.579000	0.53900	2.691000	0.91804	0.655000	0.94253	CGC		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		3	34	0	0	0	1	0	3	34					A	36216703	G	A	36216703	3	1	49	1	0	0	0	0	1	0	0	0	9664	1087	38	1	3919	1	MLL4	19	36216703	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	11906409	36216703	22912280	87	6060											
WDR62	284403	broad.mit.edu	37	chr19	36572414	36572414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagacaacaccattcGcttctggaacttggacagca	7	12	3	1	rs387907082		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36572414G>T	ENST00000270301.7	+	10	1313	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000401500.2_Missense_Mutation_p.R438L			O43379	WDR62_HUMAN	WD repeat domain 62	438			R -> H (in MCPH2; the mutant protein does not localize to the spindle pole during mitosis). {ECO:0000269|PubMed:20890279}.		cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCATTCGCTTCTGGAAC	0.463																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1312-1314)cGc>cTc		WD repeat domain 62							190	171	177					19																	36572414		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36572414G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1313G>T	19.37:g.36572414G>T	ENSP00000270301:p.Arg438Leu					WDR62_ENST00000270301.7_Missense_Mutation_p.R438L|WDR62_ENST00000388999.3_Missense_Mutation_p.R438L	p.R438L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1348	+	Esophageal squamous(110;0.162)		438					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1313G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246220	0.95272	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000270301	T;T;T	0.67698	-0.28;-0.28;-0.28	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (2);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87579	0.2483	10	0.87932	D	0	-37.3853	16.3039	0.82841	0.0:0.0:1.0:0.0	.	438;438	O43379-4;O43379	.;WDR62_HUMAN	L	438	ENSP00000384792:R438L;ENSP00000373651:R438L;ENSP00000270301:R438L	ENSP00000270301:R438L	R	+	2	0	WDR62	41264254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.462000	0.83206	0.655000	0.94253	CGC		0.463	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		27	533	1	0	4.59853e-10	1	4.98925e-10	27	533					T	36572414	G	T	36572414	3	4	49	1	0	0	0	0	1	0	0	0	17367	1087	38	3	1351	3	WDR62	19	36572414	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	355711	36572414	22556569	88	6061											
CATSPERG	57828	broad.mit.edu	37	chr19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaggactacagtgaggacGaaatctaccgcttcaacagc	9	11	3	1	rs147603617		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2899-2901)Gaa>Aaa		catsper channel auxiliary subunit gamma		G	LYS/GLU	0,4406		0,0,2203	221	233	229		2899	3.9	0.8	19	dbSNP_134	229	1,8599	1.2+/-3.3	0,1,4299	no	missense	CATSPERG	NM_021185.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	967/1160	38858385	1,13005	2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858385G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2899G>A	19.37:g.38858385G>A	ENSP00000386962:p.Glu967Lys					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	p.E967K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3014	+			967					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2899G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811016	0.50421	0.0	1.16E-4	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.57273	0.41;0.41	3.93	3.93	0.45458	.	0.165988	0.28214	N	0.016180	T	0.47857	0.1468	L	0.29908	0.895	0.80722	D	1	D;P	0.60160	0.987;0.876	P;B	0.50162	0.633;0.176	T	0.52593	-0.8555	10	0.72032	D	0.01	-10.9001	11.3115	0.49366	0.0:0.0:1.0:0.0	.	967;927	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	927;967;967	ENSP00000387057:E927K;ENSP00000386962:E967K	ENSP00000386962:E967K	E	+	1	0	CATSPERG	43550225	0.982000	0.34865	0.772000	0.31596	0.164000	0.22412	2.970000	0.49240	2.002000	0.58637	0.484000	0.47621	GAA		0.592	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		75	1203	0	0	0	1	0	75	1203					A	38858385	G	A	38858385	3	1	49	1	0	0	0	0	1	0	0	0	2699	1059	37	1	2993	1	CATSPERG	19	38858385	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	2285971	38858385	20270598	89	6062											
XRCC1	7515	broad.mit.edu	37	chr19	44055781	44055781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacccactccttacgcaCgatgcggcctcccaggccta	8	19	0	0	rs2271980		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:44055781C>A	ENST00000262887.5	-	10	1688	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1141-1143)Gtg>Ttg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							90	83	85					19																	44055781		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055781C>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1141G>T	19.37:g.44055781C>A	ENSP00000262887:p.Val381Leu					XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L	p.V381L			P18887	XRCC1_HUMAN			10	1688	-		Prostate(69;0.0153)	381			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1141G>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907354	0.92107	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.82619	-1.63;-1.63	5.16	4.11	0.48088	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.72479	2.2	0.80722	D	1	B;D	0.69078	0.041;0.997	B;D	0.71656	0.028;0.974	D	0.89976	0.4097	10	0.56958	D	0.05	-22.7288	13.6093	0.62068	0.1567:0.8433:0.0:0.0	.	350;381	F5H8D7;P18887	.;XRCC1_HUMAN	L	395;381;350	ENSP00000262887:V381L;ENSP00000443671:V350L	ENSP00000262887:V381L	V	-	1	0	XRCC1	48747621	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	5.071000	0.64382	1.472000	0.48140	0.655000	0.94253	GTG		0.622	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		26	528	1	0	3.28513e-13	1	3.68467e-13	26	528					A	44055781	C	A	44055781	3	1	49	1	0	0	0	0	1	0	0	0	17506	536	19	3	792	3	XRCC1	19	44055781	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	5197396	44055781	15073202	90	6063											
TTLL9	164395	broad.mit.edu	37	chr20	30522692	30522692	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaccaggacctcaagccGtaagtgggtgggtgggagag	17	8	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr20:30522692G>A	ENST00000375938.4	+	12	1257		c.e12+1		TTLL9_ENST00000310998.4_Splice_Site|TTLL9_ENST00000375934.4_Splice_Site|TTLL9_ENST00000375922.4_Splice_Site|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Splice_Site			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9						cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACCTCAAGCCGTAAGTGGGTG	0.522																																						ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.e12+1		tubulin tyrosine ligase-like family, member 9							68	69	69					20																	30522692		2030	4184	6214	SO:0001630	splice_region_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30522692G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1004+1G>A	20.37:g.30522692G>A						TTLL9_ENST00000375922.4_Splice_Site|TTLL9_ENST00000535842.1_Splice_Site|TTLL9_ENST00000375934.4_Splice_Site|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000310998.4_Splice_Site				Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		12	1257	+								A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Splice_Site	SNP	ENST00000375938.4	37		CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714719	0.89112	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375922	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2781	0.82656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL9	29986353	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.852000	0.75430	2.698000	0.92095	0.561000	0.74099	.		0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	Intron	5	383	0	0	0	1	0	5	383					A	30522692	G	A	30522692	5	1	49	1	0	0	0	0	0	0	1	0	16788	1159	40	1	1047	1	TTLL9	20	30522692	Splice_Site	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		30522692	32502828	91	6064											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	610						8	610	---	---	---	---	-	61833652	CCT	-	61833650	7	5	49	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-FB-AAPS-01A-12D-A397-08	31310958	61833650	1191870	92	6065											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	203						7	203	---	---	---	---	-	27394184	GTG	-	27394182	7	5	49	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-FB-AAPS-01A-12D-A397-08		27394182	20735713	93	6066											
DGCR2	9993	broad.mit.edu	37	chr22	19050735	19050735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaatgccacctcccagCgaccttccaaggagcggttc	9	15	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:19050735C>A	ENST00000263196.7	-	5	852	c.605G>T	c.(604-606)cGc>cTc	p.R202L	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.R199L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACCTCCCAGCGACCTTCCAA	0.587																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(595-597)cGc>cTc		DiGeorge syndrome critical region gene 2							116	90	99					22																	19050735		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19050735C>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.605G>T	22.37:g.19050735C>A	ENSP00000263196:p.Arg202Leu					DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000263196.7_Missense_Mutation_p.R202L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L	p.R199L			P98153	IDD_HUMAN			5	796	-	Colorectal(54;0.0993)		202			C-type lectin.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.596G>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000644	0.54254	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.18960	2.18;2.18;2.18	5.66	-2.03	0.07365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.399207	0.32081	N	0.006611	T	0.16557	0.0398	L	0.35854	1.095	0.47341	D	0.999393	B;B	0.33826	0.427;0.196	B;B	0.36504	0.226;0.162	T	0.06303	-1.0834	10	0.62326	D	0.03	.	12.3598	0.55197	0.0:0.4555:0.0:0.5445	.	158;202	B7Z3T5;P98153	.;IDD_HUMAN	L	161;202;199;202	ENSP00000440062:R161L;ENSP00000263196:R202L;ENSP00000445069:R199L	ENSP00000263196:R202L	R	-	2	0	DGCR2	17430735	0.973000	0.33851	0.958000	0.39756	0.716000	0.41182	0.164000	0.16542	-0.258000	0.09446	-0.253000	0.11424	CGC		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		7	115	1	0	5.18039e-06	1	5.51247e-06	7	115					A	19050735	C	A	19050735	3	1	49	1	0	0	0	0	1	0	0	0	4477	768	27	3	1071	3	DGCR2	22	19050735	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		19050735	32253831	94	6067											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		8	228						8	228	---	---	---	---	-	40816889	TGC	-	40816887	7	5	49	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-FB-AAPS-01A-12D-A397-08	21766152	40816887	10487679	95	6068											
MIOX	55586	broad.mit.edu	37	chr22	50926164	50926164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacagtggacttcgtcaGgagcaaggtaggcgtttcct	13	10	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:50926164G>A	ENST00000216075.6	+	3	244	c.170G>A	c.(169-171)aGg>aAg	p.R57K	MIOX_ENST00000395732.3_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	57					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACTTCGTCAGGAGCAAGGTA	0.657																																						ENST00000395732.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13						c.(169-171)aGg>aAg		myo-inositol oxygenase							87	63	71					22																	50926164		2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50926164G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.170G>A	22.37:g.50926164G>A	ENSP00000216075:p.Arg57Lys					MIOX_ENST00000216075.6_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K	p.R57K			Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	192	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	57					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.170G>A	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	1.319	-0.599983	0.03744	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.38	1.07	0.20283	.	0.221539	0.46145	D	0.000306	T	0.08714	0.0216	N	0.05050	-0.12	0.23023	N	0.998415	B;B;B	0.26708	0.157;0.001;0.0	B;B;B	0.15484	0.013;0.003;0.002	T	0.31138	-0.9954	9	0.02654	T	1	-12.0146	3.2253	0.06730	0.3012:0.0:0.5132:0.1857	.	57;57;57	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	K	57;57;57;52	.	ENSP00000216075:R57K	R	+	2	0	MIOX	49273030	0.973000	0.33851	0.254000	0.24359	0.539000	0.34962	2.035000	0.41155	0.107000	0.17824	0.491000	0.48974	AGG		0.657	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		4	198	0	0	0	1	0	4	198					A	50926164	G	A	50926164	3	1	49	1	0	0	0	0	1	0	0	0	9631	1000	35	2	180	2	MIOX	22	50926164	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	10109277	50926164	378402	96	6069											
ASB11	140456	broad.mit.edu	37	chrX	15333659	15333660	+	Frame_Shift_Ins	INS	-	-	A													ctttaattaaaagcttaaagINSaaaaaaaacgtagcaaacat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:15333659_15333660insA	ENST00000480796.1	-	1	118_119	c.68_69insT	c.(67-69)ttcfs	p.F23fs	ASB11_ENST00000380470.3_Frame_Shift_Ins_p.F23fs|ASB11_ENST00000344384.4_5'Flank|ASB11_ENST00000537676.1_5'Flank			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	23					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAAGCTTAAAGAAAAAAAACGT	0.342																																						ENST00000380470.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(67-69)tttfs		ankyrin repeat and SOCS box containing 11																																				SO:0001589	frameshift_variant	0				intracellular signal transduction			g.chrX:15333659_15333660insA	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.69dupT	X.37:g.15333667_15333667dupA	ENSP00000417914:p.Phe23fs					ASB11_ENST00000480796.1_Frame_Shift_Ins_p.F23fs	p.F23fs	NM_001201583.1|NM_080873.2	NP_001188512.1|NP_543149.1	Q8WXH4	ASB11_HUMAN			1	86_87	-	Hepatocellular(33;0.183)		23					E9PEN1|Q3SYC4|Q7Z667	Frame_Shift_Ins	INS	ENST00000480796.1	37	c.68_69insT	CCDS14164.1																																																																																				0.342	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			7	732						7	732	---	---	---	---	A	15333660	-	A	15333659	7	5	49	1	0	1	1	0	0	0	0	0	1016	933	33	0	1052	0	ASB11	23	15333659	Frame_Shift_Ins	INS	-	TCGA-FB-AAPS-01A-12D-A397-08		15333659	139936901	97	6070											
CXorf21	80231	broad.mit.edu	37	chrX	30577641	30577641	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaatttcagttgacatcaAttgcaataggcggctaaaga	9	6	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:30577641A>T	ENST00000378962.3	-	3	1154	c.832T>A	c.(832-834)Ttg>Atg	p.L278M		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	278										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GTTGACATCAATTGCAATAGG	0.398																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(832-834)Ttg>Atg		chromosome X open reading frame 21							78	69	72					X																	30577641		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577641A>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.832T>A	X.37:g.30577641A>T	ENSP00000368245:p.Leu278Met						p.L278M	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1154	-			278						Missense_Mutation	SNP	ENST00000378962.3	37	c.832T>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031426	0.19590	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	1.36	0.22044	.	0.417714	0.22387	N	0.060739	T	0.36963	0.0986	L	0.51422	1.61	0.25525	N	0.987333	P	0.50617	0.937	P	0.53809	0.735	T	0.14392	-1.0474	9	0.45353	T	0.12	-3.0314	3.1843	0.06596	0.4426:0.0:0.238:0.3193	.	278	Q9HAI6	CX021_HUMAN	M	278	.	ENSP00000368245:L278M	L	-	1	2	CXorf21	30487562	0.999000	0.42202	0.692000	0.30179	0.104000	0.19210	0.733000	0.26087	0.251000	0.21505	-0.509000	0.04479	TTG		0.398	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		15	309	0	0	0	1	0	15	309					T	30577641	A	T	30577641	3	4	49	1	0	0	0	0	1	0	0	0	4112	98	4	5	77	5	CXorf21	23	30577641	Missense_Mutation	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	15243982	30577641	124692919	98	6071											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	399						10	399	---	---	---	---	-	54578341	GAA	-	54578339	7	5	49	1	0	1	0	1	0	0	0	0	6567	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-FB-AAPS-01A-12D-A397-08	24000698	54578339	100692221	99	6072											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		4	204	0	0	0	1	0	4	204					T	66765161	A	T	66765161	3	4	49	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	12186822	66765161	88505399	100	6073											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		11	216						11	216	---	---	---	---	-	70360682	GCA	-	70360680	7	5	49	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-FB-AAPS-01A-12D-A397-08	3595519	70360680	84909880	101	6074											
ACSL4	2182	broad.mit.edu	37	chrX	108924283	108924283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgctgtgaatctcaaatCcttcagggtactctgcttta	8	10	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:108924283C>T	ENST00000469796.2	-	6	1118	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000340800.2_Missense_Mutation_p.G241E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	241					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AATCTCAAATCCTTCAGGGTA	0.343																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(721-723)gGa>gAa		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						131	118	122					X																	108924283		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|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.chrX:108924283C>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.722G>A	X.37:g.108924283C>T	ENSP00000419171:p.Gly241Glu					ACSL4_ENST00000469796.2_Missense_Mutation_p.G241E|ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E	p.G241E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			7	1226	-			241					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.722G>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050788	0.75960	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.38560	1.13;1.13;1.13	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.257801	0.44097	D	0.000485	T	0.57666	0.2069	M	0.78223	2.4	0.58432	D	0.999997	P	0.35575	0.51	P	0.47705	0.555	T	0.61013	-0.7148	10	0.72032	D	0.01	-15.5815	13.0039	0.58692	0.0:0.9159:0.0:0.0841	.	241	O60488	ACSL4_HUMAN	E	200;241;241	ENSP00000262835:G200E;ENSP00000419171:G241E;ENSP00000339787:G241E	ENSP00000339787:G241E	G	-	2	0	ACSL4	108810939	0.998000	0.40836	1.000000	0.80357	0.665000	0.39181	3.776000	0.55356	2.555000	0.86185	0.513000	0.50165	GGA		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		53	457	0	0	0	1	0	53	457					T	108924283	C	T	108924283	3	4	49	1	0	0	0	0	1	0	0	0	179	855	30	2	1457	2	ACSL4	23	108924283	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	38563603	108924283	46346277	102	6075											
SAGE1	55511	broad.mit.edu	37	chrX	134989524	134989524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggaaaatgaccaaccGcaacctaataacgtattgtc	7	9	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:134989524G>A	ENST00000370709.3	+	8	930	c.930G>A	c.(928-930)ccG>ccA	p.P310P	SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000535938.1_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	310						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGACCAACCGCAACCTAATA	0.408																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(928-930)ccG>ccA		sarcoma antigen 1							160	130	140					X																	134989524		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134989524G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.930G>A	X.37:g.134989524G>A						SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.P310P	p.P310P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			9	1097	+	Acute lymphoblastic leukemia(192;0.000127)		310					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.930G>A	CCDS14652.1																																																																																				0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		6	617	0	0	0	1	0	6	617					A	134989524	G	A	134989524	2	1	49	1	0	0	0	0	0	0	0	1	13859	1074	38	1		1	SAGE1	23	134989524	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	26065241	134989524	20281036	103	6076											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		9	681						9	681	---	---	---	---	-	150817144	GCT	-	150817142	7	5	49	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-FB-AAPS-01A-12D-A397-08	15827618	150817142	4453418	104	6077											
CNGA2	1260	broad.mit.edu	37	chrX	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggattacatttgccGcaaaggggacatcggcaagg	14	9	0	0	rs374694060		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16316	0.0		0.0	False		,,,				2504	0.0					ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1447-1449)cGc>cAc		cyclic nucleotide gated channel alpha 2		G	HIS/ARG	5,3830		0,4,1,1628,570	131	112	118		1448	4.4	1	X		118	0,6728		0,0,0,2428,1872	no	missense	CNGA2	NM_005140.1	29	0,4,1,4056,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	probably-damaging	483/665	150912423	5,10558	2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912423G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1448G>A	X.37:g.150912423G>A	ENSP00000328478:p.Arg483His						p.R483H	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1481	+	Acute lymphoblastic leukemia(192;6.56e-05)		483					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1448G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205767	0.58234	0.001304	0.0	ENSG00000183862	ENST00000329903	D	0.93247	-3.19	5.27	4.41	0.53225	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050712	0.85682	N	0.000000	D	0.95896	0.8664	M	0.74389	2.26	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.95498	0.8575	10	0.72032	D	0.01	.	10.9848	0.47516	0.0938:0.0:0.9062:0.0	.	483	Q16280	CNGA2_HUMAN	H	483	ENSP00000328478:R483H	ENSP00000328478:R483H	R	+	2	0	CNGA2	150663079	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.629000	0.83207	1.005000	0.39183	-0.260000	0.10688	CGC		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		7	515	0	0	0	1	0	7	515					A	150912423	G	A	150912423	3	1	49	1	0	0	0	0	1	0	0	0	3606	1087	38	1	1470	1	CNGA2	23	150912423	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	95281	150912423	4358137	105	6078											
ATP2B3	492	broad.mit.edu	37	chrX	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-													gaacgaggagcgcctccgggCccccccgcccccgtccccca					rs149428057	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:152845611delC	ENST00000349466.2	+	21	3844	c.3518delC	c.(3517-3519)gccfs	p.A1173fs	ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000263519.4_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCCGGGCCCCCCCGCCC	0.587																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3517-3519)gcfs		ATPase, Ca++ transporting, plasma membrane 3							83	84	84					X																	152845611		2203	4300	6503	SO:0001589	frameshift_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845611delC	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3518delC	X.37:g.152845611delC	ENSP00000343886:p.Ala1173fs					ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000370181.2_3'UTR	p.A1173fs	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			20	3644	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1173					B7WNR8|B7WNY5|Q12995|Q16858	Frame_Shift_Del	DEL	ENST00000349466.2	37	c.3518delC	CCDS35440.1																																																																																				0.587	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	1047						7	1047	---	---	---	---	-	152845611	C	-	152845611	7	5	49	1	0	1	0	1	0	0	0	0	1142	739	26	0	3754	0	ATP2B3	23	152845611	Frame_Shift_Del	DEL	C	TCGA-FB-AAPS-01A-12D-A397-08	1933188	152845611	2424949	106	6079											
TMEM52	339456	broad.mit.edu	37	chr1	1849760	1849760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgcagggctgccgtGctggtggcagatgtggctgg	18	11	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:1849760G>A	ENST00000310991.3	-	4	288	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TMEM52_ENST00000378602.3_Missense_Mutation_p.A79V	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	94						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCTGCCGTGCTGGTGGCAG	0.637																																						ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(235-237)gCa>gTa		transmembrane protein 52							47	49	48					1																	1849760		2203	4297	6500	SO:0001583	missense	339456					integral to membrane		g.chr1:1849760G>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.281C>T	1.37:g.1849760G>A	ENSP00000311122:p.Ala94Val					TMEM52_ENST00000310991.3_Missense_Mutation_p.A94V	p.A79V			Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	476	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	94					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.236C>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317752	0.23994	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.38401	1.14;1.14	3.71	1.75	0.24633	.	1.039220	0.07675	N	0.936067	T	0.33294	0.0858	L	0.40543	1.245	0.09310	N	1	P;P	0.50819	0.884;0.939	B;P	0.48524	0.396;0.58	T	0.16660	-1.0395	10	0.48119	T	0.1	-8.9629	2.56	0.04770	0.1093:0.1857:0.5143:0.1906	.	94;79	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	V	79;94	ENSP00000367865:A79V;ENSP00000311122:A94V	ENSP00000311122:A94V	A	-	2	0	TMEM52	1839620	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	1.727000	0.38095	0.188000	0.20168	0.511000	0.50034	GCA		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		68	52	0	0	0	1	0	68	52					A	1849760	G	A	1849760	3	1	50	1	0	0	0	0	1	0	0	0	16230	1319	46	2	356	2	TMEM52	1	1849760	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1849760	247400861	1	6080											
NBPF1	55672	broad.mit.edu	37	chr1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctctactgcctccaGcagctccctgctgagcctgg	10	16	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25	21	22					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		11	1933	0	0	0	1	0	11	1933					C	16892284	G	C	16892284	3	2	50	1	0	0	0	0	1	0	0	0	10233	962	34	5	523	5	NBPF1	1	16892284	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	15042524	16892284	232358337	2	6081											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	137	0	0	0	1	0	4	137					G	21806573	A	G	21806573	3	3	50	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	4914289	21806573	227444048	3	6082											
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	8	8	2	2	rs201055589		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63	41	49					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	107	0	0	0	1	0	7	107					G	21806606	T	G	21806606	3	3	50	1	0	0	0	0	1	0	0	0	10239	1841	64	4	1309	4	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	33	21806606	227444015	4	6083											
C1QB	713	broad.mit.edu	37	chr1	22986137	22986137	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggataaaaggagagaaagGtaccatgggatttagcagga	15	3	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:22986137G>A	ENST00000314933.6	+	2	319		c.e2+1		C1QB_ENST00000509305.1_Splice_Site	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGAAAGGTACCATGGGA	0.577																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.e2+1		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						24	26	26					1																	22986137		2203	4299	6502	SO:0001630	splice_region_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986137G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.187+1G>A	1.37:g.22986137G>A						C1QB_ENST00000314933.6_Splice_Site				P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	527	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q5T959|Q96H17	Splice_Site	SNP	ENST00000314933.6	37		CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336484	0.60963	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6031	0.62031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1QB	22858724	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.184000	0.72008	2.350000	0.79820	0.549000	0.68633	.		0.577	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491	Intron	20	18	0	0	0	1	0	20	18					A	22986137	G	A	22986137	5	1	50	1	0	0	0	0	0	0	1	0	1962	1275	44	2	190	2	C1QB	1	22986137	Splice_Site	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1179531	22986137	226264484	5	6084											
MACF1	23499	broad.mit.edu	37	chr1	39800921	39800922	+	Frame_Shift_Del	DEL	CT	CT	-													gtgtcattgacacacccttaCtctgaatgtgattttaaact							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:39800921_39800922delCT	ENST00000372915.3	+	36	8763_8764	c.8676_8677delCT	c.(8674-8679)tactctfs	p.S2893fs	MACF1_ENST00000564288.1_Frame_Shift_Del_p.S2888fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.S2925fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1328fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2893					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACACCCTTACTCTGAATGTGA	0.332																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8659-8664)tactfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800921_39800922delCT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8676_8677delCT	1.37:g.39800923_39800924delCT	ENSP00000362006:p.Ser2893fs					MACF1_ENST00000372915.3_Frame_Shift_Del_p.YS2892fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.YS1327fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.YS2924fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.YS2887fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9438_9439	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2892					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.8661_8662delCT																																																																																					0.332	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	305						12	305	---	---	---	---	-	39800922	CT	-	39800921	7	5	50	1	0	1	0	1	0	0	0	0	9183	576	20	0	8752	0	MACF1	1	39800921	Frame_Shift_Del	DEL	CT	TCGA-FB-AAPU-01A-31D-A40W-08	16814784	39800921	209449700	6	6085											
TMEM53	79639	broad.mit.edu	37	chr1	45120689	45120689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgacgggtctgcaggaGctccagcacgtagcggtaca	15	11	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:45120689G>C	ENST00000372237.3	-	3	539	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	126						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTGCAGGAGCTCCAGCACG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(376-378)Ctc>Gtc		transmembrane protein 53							50	51	51					1																	45120689		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120689G>C		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.376C>G	1.37:g.45120689G>C	ENSP00000361311:p.Leu126Val		OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	p.L126V	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	539	-	Acute lymphoblastic leukemia(166;0.155)		126					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.376C>G	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521758	0.64747	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.129271	0.52532	D	0.000064	T	0.69305	0.3096	M	0.67953	2.075	0.58432	D	0.999997	D	0.69078	0.997	D	0.70716	0.97	T	0.65278	-0.6207	9	0.22706	T	0.39	.	10.263	0.43438	0.0751:0.1477:0.7771:0.0	.	126	Q6P2H8	TMM53_HUMAN	V	126;126;96;95	.	ENSP00000361309:L96V	L	-	1	0	TMEM53	44893276	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.322000	0.52007	2.687000	0.91594	0.563000	0.77884	CTC		0.612	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		6	155	0	0	0	1	0	6	155					C	45120689	G	C	45120689	3	2	50	1	0	0	0	0	1	0	0	0	16231	971	34	5	461	5	TMEM53	1	45120689	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	5319768	45120689	204129932	7	6086											
DMRTA2	63950	broad.mit.edu	37	chr1	50884890	50884890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggcccaggccggccGccaggcccccacggtggtgg	17	18	0	0	rs533329963	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:50884890G>A	ENST00000404795.3	-	3	1468	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	359	Ala-rich.|Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CAGGCCGGCCGCCAGGCCCCC	0.766													G|||	2	0.000399361	0.0	0.0	5008	,	,		8501	0.002		0.0	False		,,,				2504	0.0				Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(1075-1077)gCg>gTg		DMRT-like family A2							4	5	5					1																	50884890		1557	3478	5035	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884890G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1076C>T	1.37:g.50884890G>A	ENSP00000383909:p.Ala359Val					DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1468	-			359			Ala-rich.|Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.1076C>T	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669542	0.29693	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.32272	1.46;1.46	3.31	1.39	0.22231	UBA-like (1);	0.812390	0.10993	N	0.611379	T	0.10937	0.0267	N	0.02011	-0.69	0.27973	N	0.936345	B	0.06786	0.001	B	0.01281	0.0	T	0.27468	-1.0073	10	0.28530	T	0.3	-6.7493	6.4694	0.21999	0.3416:0.0:0.6584:0.0	.	359	Q96SC8	DMTA2_HUMAN	V	359	ENSP00000383909:A359V;ENSP00000399370:A359V	ENSP00000383909:A359V	A	-	2	0	DMRTA2	50657477	0.569000	0.26643	0.997000	0.53966	0.640000	0.38277	0.181000	0.16880	0.722000	0.32252	0.462000	0.41574	GCG		0.766	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		36	20	0	0	0	1	0	36	20					A	50884890	G	A	50884890	3	1	50	1	0	0	0	0	1	0	0	0	4605	1087	38	1	556	1	DMRTA2	1	50884890	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	5764201	50884890	198365731	8	6087											
ZZZ3	26009	broad.mit.edu	37	chr1	78031331	78031331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcttccatgtcatctGtttgctggaaagtagtttgg	10	7	3	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:78031331G>C	ENST00000370801.3	-	15	3181	c.2706C>G	c.(2704-2706)aaC>aaG	p.N902K	ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	902					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CATGTCATCTGTTTGCTGGAA	0.388																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2704-2706)aaC>aaG		zinc finger, ZZ-type containing 3							179	151	161					1																	78031331		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031331G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2706C>G	1.37:g.78031331G>C	ENSP00000359837:p.Asn902Lys					ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR	p.N902K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			15	3181	-			902					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2706C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607382	0.46527	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.65067	-0.6258	9	0.87932	D	0	.	9.2332	0.37450	0.2136:0.0:0.7864:0.0	.	408;902;901	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	902;408	.	ENSP00000359834:N408K	N	-	3	2	ZZZ3	77803919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.295000	0.51794	1.500000	0.48636	-0.218000	0.12543	AAC		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		62	133	0	0	0	1	0	62	133					C	78031331	G	C	78031331	3	2	50	1	0	0	0	0	1	0	0	0	18309	1368	48	5	9	5	ZZZ3	1	78031331	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	27146441	78031331	171219290	9	6088											
MCOLN2	255231	broad.mit.edu	37	chr1	85417986	85417986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattgtctgtaggtcaatGcctttaagatgaaaggagat	11	4	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:85417986G>A	ENST00000370608.3	-	6	754	c.687C>T	c.(685-687)ggC>ggT	p.G229G	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	229					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTAGGTCAATGCCTTTAAGAT	0.328																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(685-687)ggC>ggT		mucolipin 2							98	98	98					1																	85417986		2203	4300	6503	SO:0001819	synonymous_variant	255231					integral to membrane	ion channel activity	g.chr1:85417986G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.687C>T	1.37:g.85417986G>A						MCOLN2_ENST00000284027.5_Silent_p.G201G|MCOLN2_ENST00000531325.1_5'UTR	p.G229G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	6	754	-			229					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Silent	SNP	ENST00000370608.3	37	c.687C>T	CCDS30762.1																																																																																				0.328	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		13	167	0	0	0	1	0	13	167					A	85417986	G	A	85417986	2	1	50	1	0	0	0	0	0	0	0	1	9437	1306	46	2		2	MCOLN2	1	85417986	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	7386655	85417986	163832635	10	6089											
ABCA4	24	broad.mit.edu	37	chr1	94578575	94578575	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcattccttaaccagatcaaGaccagaaataaagataaagg	7	8	1	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:94578575G>C	ENST00000370225.3	-	2	200	c.114C>G	c.(112-114)gtC>gtG	p.V38V	ABCA4_ENST00000535735.1_Silent_p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	38					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCAGATCAAGACCAGAAATA	0.443																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(112-114)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 4							118	109	112					1																	94578575		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94578575G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.114C>G	1.37:g.94578575G>C						ABCA4_ENST00000535735.1_Silent_p.V38V	p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	2	200	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	38					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.114C>G	CCDS747.1																																																																																				0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		60	287	0	0	0	1	0	60	287					C	94578575	G	C	94578575	2	2	50	1	0	0	0	0	0	0	0	1	34	929	33	5		5	ABCA4	1	94578575	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	9160589	94578575	154672046	11	6090											
RPTN	126638	broad.mit.edu	37	chr1	152128294	152128294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccGtagtgagaaccctggccttg	11	12	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152128294G>A	ENST00000316073.3	-	3	1345	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	427	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCGTAGTGAGAAC	0.522																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1279-1281)taC>taT		repetin							797	694	725					1																	152128294		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128294G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1281C>T	1.37:g.152128294G>A							p.Y427Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1345	-			427			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1281C>T	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	3634	0	0	0	1	0	12	3634					A	152128294	G	A	152128294	2	1	50	1	0	0	0	0	0	0	0	1	13714	1140	40	1		1	RPTN	1	152128294	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	57549719	152128294	97122327	12	6091											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	12	11	4	1	rs201025925		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	2582	0	0	0	1	0	12	2582					T	152128689	C	T	152128689	3	4	50	1	0	0	0	0	1	0	0	0	13714	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	395	152128689	97121932	13	6092											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	394	0	0	0	1	0	5	394					T	153907309	C	T	153907309	2	4	50	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1778620	153907309	95343312	14	6093											
DCST2	127579	broad.mit.edu	37	chr1	154998864	154998864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgatgaagaagcataGgccatacatgacgcctggga	14	8	0	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154998864G>T	ENST00000368424.3	-	10	1583	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	509						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGAAGCATAGGCCATACATG	0.637																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1525-1527)Cta>Ata		DC-STAMP domain containing 2							55	54	54					1																	154998864		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154998864G>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1525C>A	1.37:g.154998864G>T	ENSP00000357409:p.Leu509Ile					DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1583	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		509					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1525C>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477203	0.44044	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.34667	1.35;1.35	4.75	4.75	0.60458	Dendritic cell-specific transmembrane protein-like (1);	0.218950	0.30392	N	0.009722	T	0.25082	0.0609	M	0.78637	2.42	0.28184	N	0.92805	P	0.47604	0.898	B	0.42138	0.377	T	0.12993	-1.0526	10	0.36615	T	0.2	-8.1492	10.3498	0.43927	0.0:0.0:0.8042:0.1958	.	509	Q5T1A1	DCST2_HUMAN	I	509	ENSP00000357409:L509I;ENSP00000295536:L509I	ENSP00000295536:L509I	L	-	1	2	DCST2	153265488	0.483000	0.25956	0.991000	0.47740	0.961000	0.63080	0.167000	0.16602	2.466000	0.83321	0.655000	0.94253	CTA		0.637	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		98	344	1	0	1.2711e-46	1	1.44906e-46	98	344					T	154998864	G	T	154998864	3	4	50	1	0	0	0	0	1	0	0	0	4314	991	35	3	820	3	DCST2	1	154998864	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1091555	154998864	94251757	15	6094											
DCST1	149095	broad.mit.edu	37	chr1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactgcccattctgctgctgCtggtggtgctgtgtggcttg	14	11	1	0	rs202162660	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:155018875C>G	ENST00000295542.1	+	13	1504	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V|DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	470						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0					ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1408-1410)Ctg>Gtg		DC-STAMP domain containing 1							172	125	141					1																	155018875		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155018875C>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1408C>G	1.37:g.155018875C>G	ENSP00000295542:p.Leu470Val					DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V	p.L470V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		13	1504	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		470					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1408C>G	CCDS1083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.900	0.956209	0.18507	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.01	2.1	0.27182	Dendritic cell-specific transmembrane protein-like (1);	0.405411	0.23405	N	0.048536	T	0.04003	0.0112	N	0.02539	-0.55	0.29976	N	0.818112	P;P;P	0.45126	0.851;0.817;0.851	B;P;B	0.47705	0.355;0.555;0.355	T	0.22487	-1.0215	10	0.02654	T	1	-16.915	7.2083	0.25919	0.0:0.7176:0.0:0.2824	.	445;495;470	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	470;470;445;470	ENSP00000295542:L470V;ENSP00000376271:L470V;ENSP00000387369:L445V;ENSP00000357404:L470V	ENSP00000295542:L470V	L	+	1	2	DCST1	153285499	0.996000	0.38824	0.986000	0.45419	0.571000	0.35966	0.859000	0.27858	0.714000	0.32081	-0.137000	0.14449	CTG		0.627	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		6	579	0	0	0	1	0	6	579					G	155018875	C	G	155018875	3	3	50	1	0	0	0	0	1	0	0	0	4313	796	28	5	1454	5	DCST1	1	155018875	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	20011	155018875	94231746	16	6095											
CCDC19	25790	broad.mit.edu	37	chr1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtttttgttgctgccttCgttccatgtcctgccagcaa	8	12	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:159850480C>T	ENST00000368099.4	-	8	972	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CCDC19_ENST00000426543.2_Missense_Mutation_p.R218Q|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(652-654)cGa>cAa		coiled-coil domain containing 19							103	88	93					1																	159850480		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159850480C>T																												ENST00000368099.4:c.908G>A	1.37:g.159850480C>T	ENSP00000357079:p.Arg303Gln					CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q|CCDC19_ENST00000476696.1_5'UTR	p.R218Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	1108	-	all_hematologic(112;0.0597)		303						Missense_Mutation	SNP	ENST00000368099.4	37	c.653G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	1.086	-0.665561	0.03428	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10099	2.91;2.91	4.94	-0.338	0.12651	.	0.596147	0.17329	N	0.178193	T	0.01730	0.0055	N	0.16567	0.415	0.21915	N	0.999471	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.45629	-0.9248	9	.	.	.	-0.0898	11.3354	0.49500	0.0:0.6301:0.0:0.3699	.	303;303	A8K884;Q9UL16	.;CCD19_HUMAN	Q	303;218	ENSP00000357079:R303Q;ENSP00000403044:R218Q	.	R	-	2	0	CCDC19	158117104	0.000000	0.05858	0.194000	0.23346	0.168000	0.22595	-0.761000	0.04751	-0.337000	0.08426	-1.786000	0.00637	CGA		0.478	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			5	305	0	0	0	1	0	5	305					T	159850480	C	T	159850480	3	4	50	1	0	0	0	0	1	0	0	0	2802	884	31	1	767	1	CCDC19	1	159850480	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	4831605	159850480	89400141	17	6096											
ADCY10	55811	broad.mit.edu	37	chr1	167830232	167830232	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctaggcctaggacattGgccatgaacatctggatggt	13	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:167830232G>T	ENST00000367851.4	-	15	1870	c.1686C>A	c.(1684-1686)gcC>gcA	p.A562A	ADCY10_ENST00000367848.1_Silent_p.A470A|ADCY10_ENST00000545172.1_Silent_p.A409A	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	562					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTAGGACATTGGCCATGAACA	0.373																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1408-1410)gcC>gcA		adenylate cyclase 10 (soluble)							174	166	169					1																	167830232		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830232G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1686C>A	1.37:g.167830232G>T						ADCY10_ENST00000367851.4_Silent_p.A562A|ADCY10_ENST00000545172.1_Silent_p.A409A	p.A470A			Q96PN6	ADCYA_HUMAN			15	1907	-			562					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1410C>A	CCDS1265.1																																																																																				0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	423	1	0	6.40141e-05	1	6.60417e-05	9	423					T	167830232	G	T	167830232	2	4	50	1	0	0	0	0	0	0	0	1	293	1335	47	3		3	ADCY10	1	167830232	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	7979752	167830232	81420389	18	6097											
F5	2153	broad.mit.edu	37	chr1	169510226	169510226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttgtctggctgaggtctaGagaaagggttgtatggctgg	17	4	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510226G>A	ENST00000367797.3	-	13	4303	c.4102C>T	c.(4102-4104)Cta>Tta	p.L1368L	F5_ENST00000367796.3_Silent_p.L1373L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1368	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGGTCTAGAGAAAGGGTT	0.522																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4117-4119)Cta>Tta		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						163	180	174					1																	169510226		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510226G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4102C>T	1.37:g.169510226G>A						F5_ENST00000367797.3_Silent_p.L1368L	p.L1373L			P12259	FA5_HUMAN			13	4318	-	all_hematologic(923;0.208)		1368			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4117C>T	CCDS1281.1																																																																																				0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1499	0	0	0	1	0	8	1499					A	169510226	G	A	169510226	2	1	50	1	0	0	0	0	0	0	0	1	5366	933	33	2		2	F5	1	169510226	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1679994	169510226	79740395	19	6098			1	8		3	3	264	N	G_A	1.013734e-06
F5	2153	broad.mit.edu	37	chr1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtttgtctggctgaAgtctagagaaagggttgtat	15	3	2	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220	242	235					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		10	1880	0	0	0	1	0	10	1880					G	169510463	A	G	169510463	3	3	50	1	0	0	0	0	1	0	0	0	5366	72	3	4	2861	4	F5	1	169510463	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	237	169510463	79740158	20	6099			1	8		3	3	264	N	G_A	1.013734e-06
F5	2153	broad.mit.edu	37	chr1	169510489	169510489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagggttgtatggctgAggtctggagaaaggggcatc	18	4	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510489A>G	ENST00000367797.3	-	13	4040	c.3839T>C	c.(3838-3840)cTc>cCc	p.L1280P	F5_ENST00000367796.3_Missense_Mutation_p.L1285P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1280	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.498																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3853-3855)cTc>cCc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						212	227	222					1																	169510489		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510489A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3839T>C	1.37:g.169510489A>G	ENSP00000356771:p.Leu1280Pro					F5_ENST00000367797.3_Missense_Mutation_p.L1280P	p.L1285P			P12259	FA5_HUMAN			13	4055	-	all_hematologic(923;0.208)		1280		L -> I (in dbSNP:rs1046712).	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3854T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306864	0.40795	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35048	1.33;1.33	4.14	4.14	0.48551	.	2.297870	0.01198	N	0.007505	T	0.14960	0.0361	L	0.43923	1.385	0.19945	N	0.999941	B	0.15719	0.014	B	0.15052	0.012	T	0.09640	-1.0665	9	0.27785	T	0.31	.	6.7085	0.23264	0.889:0.0:0.111:0.0	.	1280	P12259	FA5_HUMAN	P	1280;1285	ENSP00000356771:L1280P;ENSP00000356770:L1285P	ENSP00000356770:L1285P	L	-	2	0	F5	167777113	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	0.302000	0.19192	1.835000	0.53391	0.533000	0.62120	CTC		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1781	0	0	0	1	0	8	1781					G	169510489	A	G	169510489	3	3	50	1	0	0	0	0	1	0	0	0	5366	304	11	4	2887	4	F5	1	169510489	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	26	169510489	79740132	21	6100			1	8		3	3	264	N	G_A	1.013734e-06
C1orf9	51430	broad.mit.edu	37	chr1	172571287	172571297	+	Frame_Shift_Del	DEL	AAATACTTCTC	AAATACTTCTC	-													ctttgtatgcagcgttgtcgAaatacttctcaatttgatgg							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:172571287_172571297delAAATACTTCTC	ENST00000263688.3	+	21	3321_3331	c.3102_3112delAAATACTTCTC	c.(3100-3114)cgaaatacttctcaafs	p.NTSQ1035fs	SUCO_ENST00000367723.4_Frame_Shift_Del_p.NTSQ1186fs|SUCO_ENST00000608151.1_Frame_Shift_Del_p.NTSQ1187fs|SUCO_ENST00000610051.1_Frame_Shift_Del_p.NTSQ664fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1035					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGCGTTGTCGAAATACTTCTCAATTTGATGG	0.336																																						ENST00000367723.3																			0											c.(3556-3570)cgaafs		SUN domain containing ossification factor																																				SO:0001589	frameshift_variant	51430							g.chr1:172571287_172571297delAAATACTTCTC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3102_3112delAAATACTTCTC	1.37:g.172571287_172571297delAAATACTTCTC	ENSP00000263688:p.Asn1035fs					SUCO_ENST00000263688.3_Frame_Shift_Del_p.RNTSQ1034fs|SUCO_ENST00000486569.1_3'UTR	p.RNTSQ1186fs	NM_016227.2	NP_057311.2					20	3682_3692	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	ENST00000263688.3	37	c.3558_3568delAAATACTTCTC	CCDS1303.1																																																																																				0.336	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		45	334						45	334	---	---	---	---	-	172571297	AAATACTTCTC	-	172571287	7	5	50	1	0	1	0	1	0	0	0	0	2074	233	9	0	3184	0	C1orf9	1	172571287	Frame_Shift_Del	DEL	AAATACTTCTC	TCGA-FB-AAPU-01A-31D-A40W-08	3060798	172571287	76679334	22	6101											
TNN	63923	broad.mit.edu	37	chr1	175086303	175086303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgggcccagaagggggCccaggagagcaagaaggctg	19	9	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:175086303C>A	ENST00000239462.4	+	10	2461	c.2348C>A	c.(2347-2349)gCc>gAc	p.A783D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAGGGGGCCCAGGAGAGC	0.572																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2347-2349)gCc>gAc		tenascin N							84	84	84					1																	175086303		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086303C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2348C>A	1.37:g.175086303C>A	ENSP00000239462:p.Ala783Asp						p.A783D	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2461	+		Breast(1374;0.000962)	783			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2348C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	c	5.911	0.352189	0.11182	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57907	0.37	5.37	-7.99	0.01131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.976720	0.01961	N	0.043375	T	0.22437	0.0541	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.30119	-0.9989	10	0.06236	T	0.91	.	4.7987	0.13284	0.1874:0.5444:0.1401:0.1281	.	783	Q9UQP3	TENN_HUMAN	D	783;606	ENSP00000239462:A783D	ENSP00000239462:A783D	A	+	2	0	TNN	173352926	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.326000	0.02685	-1.295000	0.02357	-0.821000	0.03111	GCC		0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	521	1	0	1.3612e-06	1	1.4302e-06	6	521					A	175086303	C	A	175086303	3	1	50	1	0	0	0	0	1	0	0	0	16375	739	26	3	2382	3	TNN	1	175086303	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2515016	175086303	74164318	23	6102											
PAPPA2	60676	broad.mit.edu	37	chr1	176564265	176564265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtgacaatgtggaaTtgatctcccagtacaatgga	10	8	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176564265T>C	ENST00000367662.3	+	3	2689	c.1525T>C	c.(1525-1527)Ttg>Ctg	p.L509L	PAPPA2_ENST00000367661.3_Silent_p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	509	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAATGTGGAATTGATCTCCCA	0.537																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1525-1527)Ttg>Ctg		pappalysin 2							56	57	56					1																	176564265		1976	4162	6138	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564265T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1525T>C	1.37:g.176564265T>C						PAPPA2_ENST00000367661.3_Silent_p.L509L	p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2689	+			509			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1525T>C	CCDS41438.1																																																																																				0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			66	236	0	0	0	1	0	66	236					C	176564265	T	C	176564265	2	2	50	1	0	0	0	0	0	0	0	1	11475	1490	52	4		4	PAPPA2	1	176564265	Silent	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	1477962	176564265	72686356	24	6103											
PAPPA2	60676	broad.mit.edu	37	chr1	176659486	176659486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagagtgagctgtgccGggaaccagagcccactagtg	13	12	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176659486G>A	ENST00000367662.3	+	5	3515	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	784					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGTGCCGGGAACCAGAG	0.577																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2350-2352)cGg>cAg		pappalysin 2							88	92	90					1																	176659486		1966	4133	6099	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659486G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2351G>A	1.37:g.176659486G>A	ENSP00000356634:p.Arg784Gln					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			5	3515	+			784					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2351G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	2.709	-0.269311	0.05716	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.8;1.55	5.51	-1.73	0.08081	Peptidase M43, pregnancy-associated plasma-A (1);	0.652550	0.16106	N	0.229335	T	0.17704	0.0425	N	0.25647	0.755	0.30128	N	0.805098	B;B	0.24483	0.104;0.024	B;B	0.21917	0.037;0.012	T	0.34750	-0.9816	10	0.09843	T	0.71	-0.187	13.3144	0.60399	0.3731:0.0:0.6269:0.0	.	784;784	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	784	ENSP00000356634:R784Q;ENSP00000356633:R784Q	ENSP00000356633:R784Q	R	+	2	0	PAPPA2	174926109	1.000000	0.71417	0.863000	0.33907	0.014000	0.08584	1.367000	0.34204	-0.594000	0.05836	-0.251000	0.11542	CGG		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			250	377	0	0	0	1	0	250	377					A	176659486	G	A	176659486	3	1	50	1	0	0	0	0	1	0	0	0	11475	1116	39	1	2365	1	PAPPA2	1	176659486	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	95221	176659486	72591135	25	6104											
PRG4	10216	broad.mit.edu	37	chr1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggagccttcacccaccactCccaaggagcctgcacccacc	7	20	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						ACCCACCACTCCCAAGGAGCC	0.642																																						ENST00000445192.2																			0				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						c.(1555-1557)Ccc>Acc		proteoglycan 4							128	118	121					1																	186276406		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276406C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1555C>A	1.37:g.186276406C>A	ENSP00000399679:p.Pro519Thr					PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	p.P519T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1600	+			519			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1555C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	2.625	-0.287646	0.05605	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.51;3.47;3.54	2.92	0.7	0.18099	.	.	.	.	.	T	0.05502	0.0145	L	0.46885	1.475	0.09310	N	0.999997	B;B;B;B	0.32573	0.376;0.376;0.259;0.376	B;B;B;B	0.25140	0.058;0.058;0.026;0.058	T	0.37753	-0.9692	8	.	.	.	.	7.2645	0.26222	0.3378:0.5079:0.1544:0.0	.	385;426;519;478	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	476;385;478;426;519	ENSP00000356456:P476T;ENSP00000356453:P478T;ENSP00000356455:P426T;ENSP00000399679:P519T	.	P	+	1	0	PRG4	184543029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.218000	0.02976	-0.122000	0.11766	0.186000	0.17326	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	745	1	0	5.50884e-06	1	5.76154e-06	8	745					A	186276406	C	A	186276406	3	1	50	1	0	0	0	0	1	0	0	0	12528	855	30	3	1577	3	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	9616920	186276406	62974215	26	6105											
FH	2271	broad.mit.edu	37	chr1	241671912	241671912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcctatacctgcccaagAgtaagtggaacagcatcctg	8	12	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:241671912A>G	ENST00000366560.3	-	5	767	c.729T>C	c.(727-729)acT>acC	p.T243T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	243					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTGCCCAAGAGTAAGTGGAA	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(727-729)acT>acC		fumarate hydratase							123	116	118					1																	241671912		2203	4300	6503	SO:0001819	synonymous_variant	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241671912A>G	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.729T>C	1.37:g.241671912A>G							p.T243T	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	5	767	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	243					B1ANK7	Silent	SNP	ENST00000366560.3	37	c.729T>C	CCDS1617.1																																																																																				0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		130	127	0	0	0	1	0	130	127					G	241671912	A	G	241671912	2	3	50	1	0	0	0	0	0	0	0	1	5900	291	11	4		4	FH	1	241671912	Silent	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	55395506	241671912	7578709	27	6106											
PXDN	7837	broad.mit.edu	37	chr2	1653014	1653014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcacacgttgctgcaGtgctgtccgtcggagaagcg	14	11	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:1653014G>A	ENST00000252804.4	-	17	2588	c.2538C>T	c.(2536-2538)caC>caT	p.H846H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	846					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTTGCTGCAGTGCTGTCCGT	0.647																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2536-2538)caC>caT		peroxidasin homolog (Drosophila)							33	36	35					2																	1653014		2189	4284	6473	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653014G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2538C>T	2.37:g.1653014G>A							p.H846H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2588	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	846					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2538C>T	CCDS46221.1																																																																																				0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		32	55	0	0	0	1	0	32	55					A	1653014	G	A	1653014	2	1	50	1	0	0	0	0	0	0	0	1	12897	1020	36	2		2	PXDN	2	1653014	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1653014	241546359	28	6107											
ITSN2	50618	broad.mit.edu	37	chr2	24521586	24521586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagagtttaacctgacaAtttcttcttgttctctattc	4	8	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:24521586A>G	ENST00000355123.4	-	13	1885	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T	ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	481					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCTGACAATTTCTTCTTG	0.398																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1441-1443)aTt>aCt		intersectin 2							159	156	157					2																	24521586		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521586A>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1442T>C	2.37:g.24521586A>G	ENSP00000347244:p.Ile481Thr					ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			13	1885	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		481					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1442T>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339931	0.60963	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.79653	0.08;0.13;0.08;0.56;-1.29	5.24	5.24	0.73138	.	0.000000	0.37577	U	0.002034	D	0.86531	0.5955	L	0.52011	1.625	0.52099	D	0.999941	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.85992	0.1489	10	0.40728	T	0.16	.	15.4385	0.75165	1.0:0.0:0.0:0.0	.	481;481;481;481	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	T	481;481;481;505;481;506	ENSP00000354561:I481T;ENSP00000347244:I481T;ENSP00000370250:I481T;ENSP00000384499:I481T;ENSP00000391224:I506T	ENSP00000347244:I481T	I	-	2	0	ITSN2	24375090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.614000	0.90917	2.123000	0.65237	0.397000	0.26171	ATT		0.398	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		119	263	0	0	0	1	0	119	263					G	24521586	A	G	24521586	3	3	50	1	0	0	0	0	1	0	0	0	7957	101	4	4	3814	4	ITSN2	2	24521586	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	22868572	24521586	218677787	29	6108											
C2orf39	92749	broad.mit.edu	37	chr2	26677522	26677522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggccttcagggactcgCgggccccgctgagggtacag	15	13	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:26677522C>T	ENST00000288710.2	+	15	2001	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	643					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAGGGACTCGCGGGCCCCGCT	0.592																																						ENST00000288710.2																			0											c.(1927-1929)Cgg>Tgg		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							82	77	79					2																	26677522		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26677522C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1927C>T	2.37:g.26677522C>T	ENSP00000288710:p.Arg643Trp						p.R643W	NM_145038.2	NP_659475.2					15	2001	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1927C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	c	9.094	1.002383	0.19121	.	.	ENSG00000157856	ENST00000288710	T	0.15487	2.42	4.72	-1.33	0.09172	.	1.880020	0.02011	N	0.046989	T	0.10895	0.0266	N	0.16307	0.4	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30297	-0.9983	10	0.51188	T	0.08	-2.2731	4.0988	0.10004	0.2492:0.3741:0.0:0.3767	.	643	Q96MC2	CC164_HUMAN	W	643	ENSP00000288710:R643W	ENSP00000288710:R643W	R	+	1	2	CCDC164	26531026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-0.168000	0.10853	-1.788000	0.00630	CGG		0.592	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		5	279	0	0	0	1	0	5	279					T	26677522	C	T	26677522	3	4	50	1	0	0	0	0	1	0	0	0	2171	759	27	1	1985	1	C2orf39	2	26677522	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2155936	26677522	216521851	30	6109											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	281						8	281	---	---	---	---	-	26693556	CTT	-	26693554	7	5	50	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FB-AAPU-01A-31D-A40W-08	16032	26693554	216505819	31	6110											
KCNG3	170850	broad.mit.edu	37	chr2	42719978	42719978	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcagtgcgtcctaccCggagggctccctcccagggc	14	15	0	1	rs375643888		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:42719978C>G	ENST00000306078.1	-	1	1259	c.664G>C	c.(664-666)Ggg>Cgg	p.G222R	KCNG3_ENST00000394973.4_Intron|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	222					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GCGTCCTACCCGGAGGGCTCC	0.711																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.e1+1		potassium voltage-gated channel, subfamily G, member 3							19	15	16					2																	42719978		2182	4272	6454	SO:0001630	splice_region_variant	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42719978C>G	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.665+1G>C	2.37:g.42719978C>G						KCNG3_ENST00000394973.4_Intron	p.G222_splice	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	1259	-			222					Q53SC1	Splice_Site	SNP	ENST00000306078.1	37	c.665_splice	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656292	0.47467	.	.	ENSG00000171126	ENST00000306078	D	0.97328	-4.34	4.85	3.97	0.46021	.	0.983145	0.08331	N	0.962294	D	0.91529	0.7325	N	0.08118	0	0.80722	D	1	P	0.45768	0.866	B	0.35278	0.199	D	0.86409	0.1747	10	0.54805	T	0.06	.	13.3731	0.60723	0.0:0.9238:0.0:0.0762	.	222	Q8TAE7	KCNG3_HUMAN	R	222	ENSP00000304127:G222R	ENSP00000304127:G222R	G	-	1	0	KCNG3	42573482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.822000	0.69265	1.253000	0.44018	0.563000	0.77884	GGG		0.711	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344	Missense_Mutation	26	49	0	0	0	1	0	26	49					G	42719978	C	G	42719978	5	3	50	1	0	0	0	0	0	0	1	0	8059	666	23	5	654	5	KCNG3	2	42719978	Splice_Site	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	16026424	42719978	200479395	32	6111											
TSPYL6	388951	broad.mit.edu	37	chr2	54482718	54482719	+	Frame_Shift_Ins	INS	-	-	C													ttcaggggcccgggcccgggINScccaggccctgcctccctgt							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:54482718_54482719insC	ENST00000317802.7	-	1	690_691	c.570_571insG	c.(568-573)gggcccfs	p.P191fs	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	191					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCGGGCCCGGGCCCAGGCCCTG	0.614																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(568-573)ggccggfs		TSPY-like 6																																				SO:0001589	frameshift_variant	388951				nucleosome assembly	nucleus		g.chr2:54482718_54482719insC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.571dupG	2.37:g.54482721_54482721dupC	ENSP00000417919:p.Pro191fs					ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	p.R191fs	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	690_691	-			191					Q6NUJ3	Frame_Shift_Ins	INS	ENST00000317802.7	37	c.570_571insG	CCDS42682.1																																																																																				0.614	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		16	202						16	202	---	---	---	---	C	54482719	-	C	54482718	7	5	50	1	0	1	1	0	0	0	0	0	16716	1203	42	0	665	0	TSPYL6	2	54482718	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	11762740	54482718	188716655	33	6112											
STEAP3	55240	broad.mit.edu	37	chr2	120005698	120005698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctcagcttcttctgCgccgccctgcacgccctcta	10	18	4	0	rs145832236		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:120005698C>T	ENST00000354888.5	+	4	1440	c.936C>T	c.(934-936)tgC>tgT	p.C312C	STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	312	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTTCTTCTGCGCCGCCCTGC	0.677																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(934-936)tgC>tgT		STEAP family member 3, metalloreductase		C	,,	0,4394		0,0,2197	30	27	28		936,936,966	2.6	1	2	dbSNP_134	28	1,8577		0,1,4288	no	coding-synonymous,coding-synonymous,coding-synonymous	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	,,	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	,,	312/489,312/489,322/499	120005698	1,12971	2197	4289	6486	SO:0001819	synonymous_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005698C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.936C>T	2.37:g.120005698C>T						STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C	p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1440	+			312			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.936C>T	CCDS2125.1																																																																																				0.677	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		69	53	0	0	0	1	0	69	53					T	120005698	C	T	120005698	2	4	50	1	0	0	0	0	0	0	0	1	15331	776	27	1		1	STEAP3	2	120005698	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	65522980	120005698	123193675	34	6113											
RND3	390	broad.mit.edu	37	chr2	151326505	151326505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagataatgaaagattcacAtcacagtgcagctcttcgct	7	9	3	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:151326505A>G	ENST00000375734.2	-	5	980	c.731T>C	c.(730-732)aTg>aCg	p.M244T	RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T|RND3_ENST00000472416.1_5'Flank	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	244					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AAAGATTCACATCACAGTGCA	0.423																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(730-732)aTg>aCg		Rho family GTPase 3							98	91	93					2																	151326505		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326505A>G		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.731T>C	2.37:g.151326505A>G	ENSP00000364886:p.Met244Thr					RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T	p.M244T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	980	-			244					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.731T>C	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498553	0.64298	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68624	-0.34;-0.34;2.26	5.81	5.81	0.92471	.	0.033764	0.85682	D	0.000000	T	0.75517	0.3860	M	0.64404	1.975	0.80722	D	1	P;D;D	0.55800	0.597;0.973;0.973	P;P;P	0.55345	0.774;0.663;0.663	T	0.78560	-0.2157	10	0.87932	D	0	-26.2874	15.3525	0.74399	1.0:0.0:0.0:0.0	.	107;243;244	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	244;244;115	ENSP00000364886:M244T;ENSP00000263895:M244T;ENSP00000386576:M115T	ENSP00000263895:M244T	M	-	2	0	RND3	151034751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	2.221000	0.72209	0.528000	0.53228	ATG		0.423	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		91	82	0	0	0	1	0	91	82					G	151326505	A	G	151326505	3	3	50	1	0	0	0	0	1	0	0	0	13471	217	8	4	7	4	RND3	2	151326505	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	31320807	151326505	91872868	35	6114											
SGOL2	151246	broad.mit.edu	37	chr2	201436126	201436126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaaattgaggataatgatGactttcaattgcagaaaact	7	5	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:201436126G>A	ENST00000357799.4	+	7	1155	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	353					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATAATGATGACTTTCAATT	0.373																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1057-1059)Gac>Aac		shugoshin-like 2 (S. pombe)							35	33	34					2																	201436126		1882	4108	5990	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436126G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1057G>A	2.37:g.201436126G>A	ENSP00000350447:p.Asp353Asn						p.D353N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1155	+			353					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1057G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057581	0.36277	.	.	ENSG00000163535	ENST00000357799	T	0.12984	2.63	5.45	3.63	0.41609	.	0.200831	0.35436	N	0.003203	T	0.11324	0.0276	L	0.46157	1.445	0.22457	N	0.999084	P;P;P	0.40332	0.713;0.713;0.713	B;B;B	0.36845	0.234;0.234;0.234	T	0.16247	-1.0409	10	0.25106	T	0.35	-3.3647	9.4882	0.38942	0.1632:0.0:0.8368:0.0	.	353;353;353	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	353	ENSP00000350447:D353N	ENSP00000350447:D353N	D	+	1	0	SGOL2	201144371	0.000000	0.05858	0.691000	0.30163	0.196000	0.23810	0.307000	0.19296	0.837000	0.34925	0.585000	0.79938	GAC		0.373	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	126	0	0	0	1	0	4	126					A	201436126	G	A	201436126	3	1	50	1	0	0	0	0	1	0	0	0	14267	1290	45	2	1079	2	SGOL2	2	201436126	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	50109621	201436126	41763247	36	6115											
UGT1A10	54575	broad.mit.edu	37	chr2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgacctgtggctttgCcgaggcagggaagctgctgg	16	10	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGTGGCTTTGCCGAGGCAGGG	0.592																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(67-69)gCc>gTc									102	95	97					2																	234545236		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545236C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.68C>T	2.37:g.234545236C>T	ENSP00000343838:p.Ala23Val					UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A8_ENST00000373450.4_Intron	p.A23V	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	137	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.68C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194005	0.22037	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.36	3.83	1.94	0.25998	.	.	.	.	.	T	0.40619	0.1124	L	0.31845	0.965	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.23852	0.02;0.049	T	0.28964	-1.0027	9	0.13470	T	0.59	.	5.5238	0.16947	0.0:0.6325:0.1827:0.1848	.	23;23	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	V	23	ENSP00000343838:A23V;ENSP00000362544:A23V	ENSP00000343838:A23V	A	+	2	0	UGT1A10	234209975	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.183000	0.16919	0.376000	0.24707	0.537000	0.68136	GCC		0.592	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		5	389	0	0	0	1	0	5	389					T	234545236	C	T	234545236	3	4	50	1	0	0	0	0	1	0	0	0	16999	739	26	2	70	2	UGT1A10	2	234545236	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	33109110	234545236	8654137	37	6116											
SPP2	6694	broad.mit.edu	37	chr2	234959698	234959698	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaattcccagtcactgAgtccgtatctgtttcgggca	10	10	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234959698A>T	ENST00000168148.3	+	2	257	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	57					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCAGTCACTGAGTCCGTATCT	0.468																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(169-171)Agt>Tgt		secreted phosphoprotein 2, 24kDa							115	100	105					2																	234959698		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959698A>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.169A>T	2.37:g.234959698A>T	ENSP00000168148:p.Ser57Cys					SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Missense_Mutation_p.S57C	p.S57C	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	2	257	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	57					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.169A>T	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077136	0.55753	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.51071	0.72;0.72	5.39	3.07	0.35406	.	0.136200	0.52532	D	0.000071	T	0.60392	0.2265	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49341	-0.8950	10	0.62326	D	0.03	-31.8015	6.1693	0.20408	0.8066:0.0:0.1934:0.0	.	57	Q13103	SPP24_HUMAN	C	57	ENSP00000362466:S57C;ENSP00000168148:S57C	ENSP00000168148:S57C	S	+	1	0	SPP2	234624437	0.997000	0.39634	0.772000	0.31596	0.826000	0.46750	1.596000	0.36718	0.903000	0.36546	0.533000	0.62120	AGT		0.468	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		93	127	0	0	0	1	0	93	127					T	234959698	A	T	234959698	3	4	50	1	0	0	0	0	1	0	0	0	15139	304	11	5	175	5	SPP2	2	234959698	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	414462	234959698	8239675	38	6117											
HDLBP	3069	broad.mit.edu	37	chr2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcaccttgcgaattttgCcgccccccttgccgatgagg	11	16	0	1	rs199968516		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170	158	162					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	558	0	0	0	1	0	6	558					T	242179464	C	T	242179464	3	4	50	1	0	0	0	0	1	0	0	0	7055	739	26	2	1607	2	HDLBP	2	242179464	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7219766	242179464	1019909	39	6118											
SRGAP3	9901	broad.mit.edu	37	chr3	9027284	9027286	+	In_Frame_Del	DEL	GCT	GCT	-													gccgggctgcccacgcccgaGctgctgctgctgctggaccg							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9027284_9027286delGCT	ENST00000383836.3	-	22	3644_3646	c.3217_3219delAGC	c.(3217-3219)agcdel	p.S1074del	SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1074					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACGCCCGAGCTGCTGCTGCTG	0.739			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3217-3219)del		SLIT-ROBO Rho GTPase activating protein 3			,	43,4199		2,39,2080					,	3.9	0.9			24	99,8113		4,91,4011	no	coding,coding	SRGAP3	NM_014850.2,NM_001033117.1	,	6,130,6091	A1A1,A1R,RR		1.2056,1.0137,1.1402	,	,		142,12312				SO:0001651	inframe_deletion	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9027284_9027286delGCT	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.3217_3219delAGC	3.37:g.9027293_9027295delGCT	ENSP00000373347:p.Ser1074del					SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del	p.S1074del	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	22	3644_3646	-			1074					Q8IX13|Q8IZV8	In_Frame_Del	DEL	ENST00000383836.3	37	c.3217_3219delAGC	CCDS2572.1																																																																																				0.739	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	143						8	143	---	---	---	---	-	9027286	GCT	-	9027284	7	5	50	1	0	1	0	1	0	0	0	0	15199	962	34	0	84	0	SRGAP3	3	9027284	In_Frame_Del	DEL	GCT	TCGA-FB-AAPU-01A-31D-A40W-08		9027284	188995146	40	6119											
OGG1	4968	broad.mit.edu	37	chr3	9798512	9798512	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagcggtgagtgtaccTaggtgtcctccctaggtttc	12	12	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9798512T>A	ENST00000344629.7	+	6	1291				OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000339511.5_Silent_p.P320P|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TGAGTGTACCTAGGTGTCCTC	0.572								Base excision repair (BER), DNA glycosylases																														ENST00000339511.5																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(958-960)ccT>ccA	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							88	92	91					3																	9798512		2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798512T>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.948+12T>A	3.37:g.9798512T>A						OGG1_ENST00000449570.2_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Intron	p.P320P	NM_016819.3	NP_058212.1	O15527	OGG1_HUMAN			6	1266	+	Medulloblastoma(99;0.227)		0		S -> T (in dbSNP:rs1801128).			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.960T>A	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	T	2.225	-0.377530	0.05000	.	.	ENSG00000114026	ENST00000441094	.	.	.	4.49	-1.64	0.08318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	5.7992	0.18403	0.0:0.3968:0.1559:0.4473	.	.	.	.	Q	218	.	.	L	+	2	0	OGG1	9773512	0.000000	0.05858	0.002000	0.10522	0.416000	0.31233	-0.654000	0.05354	-0.285000	0.09089	0.533000	0.62120	CTA		0.572	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		4	196	0	0	0	1	0	4	196					A	9798512	T	A	9798512	1	1	50	0	1	0	0	0	0	0	0	0	10887	1509	53	5		5	OGG1	3	9798512	Intron	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	771228	9798512	188223918	41	6120											
CYP8B1	1582	broad.mit.edu	37	chr3	42917299	42917299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcccagcactggaccccAgagaaccatggctatgctcc	9	16	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:42917299A>C	ENST00000316161.4	-	1	334	c.10T>G	c.(10-12)Tgg>Ggg	p.W4G	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	4					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACTGGACCCCAGAGAACCATG	0.592																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(10-12)Tgg>Ggg		cytochrome P450, family 8, subfamily B, polypeptide 1							30	31	31					3																	42917299		2191	4282	6473	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42917299A>C	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.10T>G	3.37:g.42917299A>C	ENSP00000318867:p.Trp4Gly					KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G|ACKR2_ENST00000471537.1_Intron	p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	334	-			4					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.10T>G	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634875	0.47049	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74947	-0.73;-0.89	4.89	4.89	0.63831	.	0.287902	0.27513	N	0.019032	T	0.71281	0.3321	N	0.08118	0	0.32807	D	0.500855	D;D	0.76494	0.999;0.988	D;P	0.63488	0.915;0.779	T	0.80111	-0.1519	10	0.87932	D	0	-13.3635	13.6159	0.62108	1.0:0.0:0.0:0.0	.	4;4	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	G	4	ENSP00000404499:W4G;ENSP00000318867:W4G	ENSP00000318867:W4G	W	-	1	0	CYP8B1	42892303	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	5.950000	0.70265	2.064000	0.61679	0.459000	0.35465	TGG		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		58	81	0	0	0	1	0	58	81					C	42917299	A	C	42917299	3	2	50	1	0	0	0	0	1	0	0	0	4209	188	7	4	1499	4	CYP8B1	3	42917299	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	33118787	42917299	155105131	42	6121											
CCDC58	131076	broad.mit.edu	37	chr3	122081856	122081856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacttcttcaacattcagttCtgactgcatccatttcaact	3	13	5	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:122081856C>T	ENST00000291458.5	-	4	349	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	115						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		ACATTCAGTTCTGACTGCATC	0.313																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.(343-345)Gaa>Aaa		coiled-coil domain containing 58							88	84	85					3																	122081856		2202	4300	6502	SO:0001583	missense	131076							g.chr3:122081856C>T	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.343G>A	3.37:g.122081856C>T	ENSP00000291458:p.Glu115Lys					CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K|CCDC58_ENST00000466854.1_5'UTR	p.E115K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	4	349	-			115					Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	c.343G>A	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821041|4.821041	0.90873|0.90873	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000497726;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.89287|0.89287	3.02|3.02	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85748|0.85748	0.1341|0.1341	9|5	0.87932|.	D|.	0|.	.|.	15.8232|15.8232	0.78676|0.78676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|.	Q4VC31|.	CCD58_HUMAN|.	K|K	115;24;101|111	.|.	ENSP00000291458:E115K|.	E|R	-|-	1|2	0|0	CCDC58|CCDC58	123564546|123564546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.444000|6.444000	0.73452|0.73452	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.313	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928		59	129	0	0	0	1	0	59	129					T	122081856	C	T	122081856	3	4	50	1	0	0	0	0	1	0	0	0	2835	922	32	2	99	2	CCDC58	3	122081856	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	79164557	122081856	75940574	43	6122											
MYLK	4638	broad.mit.edu	37	chr3	123418920	123418920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtctttccgttcagcGtccagatgatggtggctggg	16	8	2	3	rs202025561		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:123418920G>A	ENST00000475616.1	-	15	3394	c.3395C>T	c.(3394-3396)aCg>aTg	p.T1132M	MYLK_ENST00000360772.3_Missense_Mutation_p.T1132M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M			Q15746	MYLK_HUMAN	myosin light chain kinase	1132	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCGTTCAGCGTCCAGATGAT	0.567																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3394-3396)aCg>aTg		myosin light chain kinase							103	98	100					3																	123418920		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123418920G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3395C>T	3.37:g.123418920G>A	ENSP00000418335:p.Thr1132Met					MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1132M	p.T1132M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3773	-		Lung NSC(201;0.0496)	1132			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3395C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664962	0.29604	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.32639	N	0.521	B;B;B;B;B;B	0.33512	0.237;0.157;0.379;0.362;0.415;0.279	B;B;B;B;B;B	0.34138	0.11;0.062;0.105;0.11;0.139;0.176	T	0.38308	-0.9667	9	0.33141	T	0.24	.	12.9494	0.58391	0.1201:0.0:0.8799:0.0	.	1132;210;1063;1132;1063;1132	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1132;1132;1132;1063;1132	ENSP00000354004:T1132M;ENSP00000353452:T1132M;ENSP00000352088:T1132M;ENSP00000320622:T1063M;ENSP00000418335:T1132M	ENSP00000320622:T1063M	T	-	2	0	MYLK	124901610	1.000000	0.71417	0.648000	0.29521	0.936000	0.57629	3.938000	0.56583	0.800000	0.34041	0.555000	0.69702	ACG		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		146	293	0	0	0	1	0	146	293					A	123418920	G	A	123418920	3	1	50	1	0	0	0	0	1	0	0	0	10097	1145	40	1	2417	1	MYLK	3	123418920	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1337064	123418920	74603510	44	6123											
XRN1	54464	broad.mit.edu	37	chr3	142094760	142094760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgagatttaaacccAcatttgctttatggtctcca	6	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:142094760A>C	ENST00000264951.4	-	25	2975	c.2858T>G	c.(2857-2859)gTg>gGg	p.V953G	XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	953					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTAAACCCACATTTGCTTT	0.403																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2857-2859)gTg>gGg		5'-3' exoribonuclease 1							90	84	86					3																	142094760		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142094760A>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2858T>G	3.37:g.142094760A>C	ENSP00000264951:p.Val953Gly					XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			25	2975	-			953					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2858T>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344152	0.82022	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.37752	1.18;1.18	5.78	5.78	0.91487	.	0.062617	0.64402	D	0.000006	T	0.58104	0.2099	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.62649	0.905;0.806	T	0.62315	-0.6880	10	0.87932	D	0	-11.1021	16.0952	0.81114	1.0:0.0:0.0:0.0	.	953;953	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	G	953	ENSP00000264951:V953G;ENSP00000376707:V953G	ENSP00000264951:V953G	V	-	2	0	XRN1	143577450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.209000	0.71365	0.477000	0.44152	GTG		0.403	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		63	162	0	0	0	1	0	63	162					C	142094760	A	C	142094760	3	2	50	1	0	0	0	0	1	0	0	0	17513	159	6	4	2334	4	XRN1	3	142094760	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	18675840	142094760	55927670	45	6124											
CCNL1	57018	broad.mit.edu	37	chr3	156866115	156866115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggagcgagatcgttcaCgcctgtccctatgatgtccc	10	13	1	2	rs202095674		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:156866115C>T	ENST00000295926.3	-	11	1614	c.1496G>A	c.(1495-1497)cGt>cAt	p.R499H	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	499					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGATCGTTCACGCCTGTCCCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19074	0.001		0.0	False		,,,				2504	0.0					ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1495-1497)cGt>cAt		cyclin L1		C	HIS/ARG	0,4406		0,0,2203	218	185	196		1496	4.3	0.8	3		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCNL1	NM_020307.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	499/527	156866115	1,13005	2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866115C>T	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1496G>A	3.37:g.156866115C>T	ENSP00000295926:p.Arg499His					CCNL1_ENST00000461804.1_Intron	p.R499H	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1614	-			499					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1496G>A	CCDS3178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.15	2.746831	0.49257	0.0	1.16E-4	ENSG00000163660	ENST00000295926	T	0.22945	1.93	5.2	4.32	0.51571	.	0.110120	0.53938	D	0.000041	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	P	0.42584	0.784	B	0.38616	0.277	T	0.03025	-1.1081	10	0.27785	T	0.31	-1.4904	13.7858	0.63108	0.0:0.9257:0.0:0.0743	.	499	Q9UK58	CCNL1_HUMAN	H	499	ENSP00000295926:R499H	ENSP00000295926:R499H	R	-	2	0	CCNL1	158348809	0.999000	0.42202	0.844000	0.33320	0.808000	0.45660	4.102000	0.57776	1.314000	0.45095	0.557000	0.71058	CGT		0.512	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		120	263	0	0	0	1	0	120	263					T	156866115	C	T	156866115	3	4	50	1	0	0	0	0	1	0	0	0	2940	536	19	1	88	1	CCNL1	3	156866115	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	14771355	156866115	41156315	46	6125											
LIMCH1	22998	broad.mit.edu	37	chr4	41605916	41605916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgattatagtaggaagctGaaaaatgtaagtgttttaac	9	3	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:41605916G>A	ENST00000313860.7	+	5	423	c.369G>A	c.(367-369)ctG>ctA	p.L123L	LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	123	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGGAAGCTGAAAAATGTAA	0.338																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(367-369)ctG>ctA		LIM and calponin homology domains 1							111	111	111					4																	41605916		2202	4297	6499	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41605916G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.369G>A	4.37:g.41605916G>A						LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000509638.1_5'UTR	p.L123L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			5	423	+			123			CH.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.369G>A	CCDS33977.1																																																																																				0.338	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		58	115	0	0	0	1	0	58	115					A	41605916	G	A	41605916	2	1	50	1	0	0	0	0	0	0	0	1	8829	1277	45	2		2	LIMCH1	4	41605916	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		41605916	149548360	47	6126											
FIP1L1	81608	broad.mit.edu	37	chr4	54248462	54248462	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagtgctaatcctccatctgGaattgaagatgaaactgctg	9	8	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:54248462G>C	ENST00000337488.6	+	4	382	c.188G>C	c.(187-189)gGa>gCa	p.G63A	FIP1L1_ENST00000507166.1_Missense_Mutation_p.G63A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	63	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTCCATCTGGAATTGAAGAT	0.333			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(187-189)gGa>gCa		factor interacting with PAPOLA and CPSF1							155	144	148					4																	54248462		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54248462G>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.188G>C	4.37:g.54248462G>C	ENSP00000336752:p.Gly63Ala					FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000337488.6_Missense_Mutation_p.G63A|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A	p.G63A			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		4	188	+			63			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.188G>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844491	0.71488	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.76578	-1.03	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.82430	0.5035	L	0.36672	1.1	0.54753	D	0.999984	P;D;B;D	0.76494	0.955;0.999;0.217;0.958	P;D;B;P	0.80764	0.756;0.994;0.189;0.671	T	0.78175	-0.2306	10	0.20519	T	0.43	-21.7326	17.912	0.88937	0.0:0.0:1.0:0.0	.	48;48;63;48	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	A	63;48;48;48;63	ENSP00000423325:G63A	ENSP00000302993:G48A	G	+	2	0	FIP1L1	53943219	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.540000	0.45727	2.556000	0.86216	0.655000	0.94253	GGA		0.333	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		55	82	0	0	0	1	0	55	82					C	54248462	G	C	54248462	3	2	50	1	0	0	0	0	1	0	0	0	5921	1174	41	5	202	5	FIP1L1	4	54248462	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	12642546	54248462	136905814	48	6127											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205337	73205337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccgcgtgtctgcggcgtctCattgtttcattcagctgctg	11	13	4	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73205337C>G	ENST00000286657.4	-	5	771	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	245					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGGCGTCTCATTGTTTCAT	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(733-735)atG>atC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							243	234	237					4																	73205337		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205337C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.735G>C	4.37:g.73205337C>G	ENSP00000286657:p.Met245Ile						p.M245I	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	771	-			245					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.735G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179799	0.06380	.	.	ENSG00000156140	ENST00000286657	T	0.60171	0.21	5.31	1.65	0.23941	.	1.075530	0.07192	N	0.855931	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.39692	T	0.17	.	2.8231	0.05477	0.2577:0.4819:0.1247:0.1357	.	245	O15072	ATS3_HUMAN	I	245	ENSP00000286657:M245I	ENSP00000286657:M245I	M	-	3	0	ADAMTS3	73424201	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	-0.034000	0.12225	0.093000	0.17368	-0.300000	0.09419	ATG		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			25	688	0	0	0	1	0	25	688					G	73205337	C	G	73205337	3	3	50	1	0	0	0	0	1	0	0	0	267	826	29	5	2954	5	ADAMTS3	4	73205337	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	18956875	73205337	117948939	49	6128											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414444	73414444	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatcttttccaaatgcCgtgatgttaaagaacaactg	7	7	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73414444C>G	ENST00000286657.4	-	3	291	c.255G>C	c.(253-255)acG>acC	p.T85T	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	85					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCAAATGCCGTGATGTTAA	0.493																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(253-255)acG>acC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							107	101	103					4																	73414444		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414444C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.255G>C	4.37:g.73414444C>G						ADAMTS3_ENST00000505193.1_5'UTR	p.T85T	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	291	-			85					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.255G>C	CCDS3553.1																																																																																				0.493	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			69	151	0	0	0	1	0	69	151					G	73414444	C	G	73414444	2	3	50	1	0	0	0	0	0	0	0	1	267	639	23	5		5	ADAMTS3	4	73414444	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	209107	73414444	117739832	50	6129											
PLK4	10733	broad.mit.edu	37	chr4	128816239	128816239	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaaaaatgttggttgGgctacacaggtgagaagttt	13	3	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:128816239G>C	ENST00000270861.5	+	14	2968	c.2694G>C	c.(2692-2694)tgG>tgC	p.W898C	PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	898	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTTGGTTGGGCTACACAGG	0.323																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2692-2694)tgG>tgC		polo-like kinase 4							111	114	113					4																	128816239		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128816239G>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2694G>C	4.37:g.128816239G>C	ENSP00000270861:p.Trp898Cys					PLK4_ENST00000515069.1_Missense_Mutation_p.W820C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C	p.W898C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			14	2968	+			898			POLO box.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2694G>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548975	0.45383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.25	4.37	0.52481	POLO box duplicated domain (2);	0.056561	0.85682	D	0.000000	T	0.12475	0.0303	L	0.35723	1.085	0.80722	D	1	B;B	0.33494	0.01;0.414	B;B	0.38378	0.034;0.272	T	0.06232	-1.0838	10	0.52906	T	0.07	-1.8738	15.0412	0.71793	0.0:0.0:0.8575:0.1425	.	866;898	O00444-2;O00444	.;PLK4_HUMAN	C	898;820;866;837;857;144	ENSP00000270861:W898C;ENSP00000421774:W820C;ENSP00000427554:W866C;ENSP00000423412:W837C;ENSP00000423582:W857C;ENSP00000427568:W144C	ENSP00000270861:W898C	W	+	3	0	PLK4	129035689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.950000	0.70265	2.730000	0.93505	0.479000	0.44913	TGG		0.323	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			77	182	0	0	0	1	0	77	182					C	128816239	G	C	128816239	3	2	50	1	0	0	0	0	1	0	0	0	12140	1241	43	5	2748	5	PLK4	4	128816239	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	55401795	128816239	62338037	51	6130											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		6	809	0	0	0	1	0	6	809					A	186544317	G	A	186544317	3	1	50	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	57728078	186544317	4609959	52	6131											
PLK2	10769	broad.mit.edu	37	chr5	57750426	57750426	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagttacatctttgtAagagcatgttcagggcatat	8	7	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:57750426A>C	ENST00000274289.3	-	14	2342	c.2042T>G	c.(2041-2043)tTa>tGa	p.L681*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	681					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACATCTTTGTAAGAGCATGTT	0.408																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(2041-2043)tTa>tGa		polo-like kinase 2							148	141	143					5																	57750426		2203	4300	6503	SO:0001587	stop_gained	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57750426A>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.2042T>G	5.37:g.57750426A>C	ENSP00000274289:p.Leu681*					PLK2_ENST00000502671.1_Intron	p.L681*	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	14	2342	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	681					O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	c.2042T>G	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	40	8.531226	0.98852	.	.	ENSG00000145632	ENST00000274289	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.6175	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	X	681	.	ENSP00000274289:L681X	L	-	2	0	PLK2	57786183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.962000	0.76048	2.274000	0.75844	0.533000	0.62120	TTA		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		9	256	0	0	0	1	0	9	256					C	57750426	A	C	57750426	4	2	50	1	0	0	0	0	0	1	0	0	12138	372	13	4	19	4	PLK2	5	57750426	Nonsense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08		57750426	123164834	53	6132											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	11	1	1	rs149001132		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4																			1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221	222	222		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	543	0	0	0	1	0	7	543					A	76129526	G	A	76129526	3	1	50	1	0	0	0	0	1	0	0	0	5362	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	18379100	76129526	104785734	54	6133											
TSSK1B	83942	broad.mit.edu	37	chr5	112769663	112769663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagggttcagttccccGggaactctccccctccttgt	8	17	2	0	rs369630791		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:112769663G>A	ENST00000390666.3	-	1	1065	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	292					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCAGTTCCCCGGGAACTCTCC	0.637																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(874-876)Cgg>Tgg		testis-specific serine kinase 1B		G	,TRP/ARG	1,4339		0,1,2169	35	38	37		,874	1.2	0	5		37	0,8574		0,0,4287	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,101	0,1,6456	AA,AG,GG		0.0,0.023,0.0077	,possibly-damaging	,292/368	112769663	1,12913	2170	4287	6457	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769663G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.874C>T	5.37:g.112769663G>A	ENSP00000375081:p.Arg292Trp					CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	p.R292W	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1065	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	292					B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.874C>T	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263874	0.23136	2.3E-4	0.0	ENSG00000212122	ENST00000390666	T	0.69806	-0.43	1.24	1.24	0.21308	Protein kinase-like domain (1);	0.657886	0.11189	U	0.590072	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.26883	-1.0090	10	0.41790	T	0.15	.	5.7504	0.18144	0.0:0.0:1.0:0.0	.	292	Q9BXA7	TSSK1_HUMAN	W	292	ENSP00000375081:R292W	ENSP00000375081:R292W	R	-	1	2	TSSK1B	112797562	0.980000	0.34600	0.001000	0.08648	0.004000	0.04260	4.334000	0.59291	0.653000	0.30826	0.462000	0.41574	CGG		0.637	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		47	80	0	0	0	1	0	47	80					A	112769663	G	A	112769663	3	1	50	1	0	0	0	0	1	0	0	0	16721	1115	39	1	233	1	TSSK1B	5	112769663	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	36640137	112769663	68145597	55	6134											
ZNF608	57507	broad.mit.edu	37	chr5	123980108	123980111	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gtccttccagttcacaggagTctttcgatcatcatttttca							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123980108_123980111delTCTT	ENST00000306315.5	-	5	4384_4387	c.3949_3952delAAGA	c.(3949-3954)aagactfs	p.KT1317fs	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1317							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCACAGGAGTCTTTCGATCATCA	0.461																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3949-3954)ctfs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123980108_123980111delTCTT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3949_3952delAAGA	5.37:g.123980108_123980111delTCTT	ENSP00000307746:p.Lys1317fs					ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	p.KT1317fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4384_4387	-		all_cancers(142;0.186)|Prostate(80;0.081)	1317					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Del	DEL	ENST00000306315.5	37	c.3949_3952delAAGA	CCDS34219.1																																																																																				0.461	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		10	582						10	582	---	---	---	---	-	123980111	TCTT	-	123980108	7	5	50	1	0	1	0	1	0	0	0	0	18087	1667	58	0	606	0	ZNF608	5	123980108	Frame_Shift_Del	DEL	TCTT	TCGA-FB-AAPU-01A-31D-A40W-08	11210445	123980108	56935152	56	6135											
ZNF608	57507	broad.mit.edu	37	chr5	123984759	123984759	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggcagcagcagcagAcctcgctctcttccctctgc	11	18	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123984759A>T	ENST00000306315.5	-	4	1753	c.1318T>A	c.(1318-1320)Tct>Act	p.S440T	ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	440							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAGCAGCAGACCTCGCTCTC	0.597																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1318-1320)Tct>Act		zinc finger protein 608							31	34	33					5																	123984759		2202	4296	6498	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984759A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1318T>A	5.37:g.123984759A>T	ENSP00000307746:p.Ser440Thr					ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	p.S440T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1753	-		all_cancers(142;0.186)|Prostate(80;0.081)	440					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1318T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027154	0.35797	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.45276	0.93;0.9	5.26	5.26	0.73747	.	0.178789	0.50627	D	0.000117	T	0.22166	0.0534	N	0.14661	0.345	0.30518	N	0.768777	B	0.02656	0.0	B	0.06405	0.002	T	0.18304	-1.0341	10	0.08837	T	0.75	-13.6396	9.307	0.37881	0.7225:0.0:0.0:0.2775	.	440	Q9ULD9	ZN608_HUMAN	T	13;440;440;440	ENSP00000427657:S13T;ENSP00000307746:S440T	ENSP00000307746:S440T	S	-	1	0	ZNF608	124012658	0.999000	0.42202	0.853000	0.33588	0.600000	0.36913	1.070000	0.30653	1.989000	0.58080	0.445000	0.29226	TCT		0.597	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		11	299	0	0	0	1	0	11	299					T	123984759	A	T	123984759	3	4	50	1	0	0	0	0	1	0	0	0	18087	275	10	5	3244	5	ZNF608	5	123984759	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	4651	123984759	56930501	57	6136											
PCDHB15	56121	broad.mit.edu	37	chr5	140626038	140626038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttgagctaagcagccttTcaggagaaattcgactaatt	8	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140626038T>A	ENST00000231173.3	+	1	892	c.892T>A	c.(892-894)Tca>Aca	p.S298T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	298	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)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGCCTTTCAGGAGAAAT	0.403																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(892-894)Tca>Aca									64	68	67					5																	140626038		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626038T>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.892T>A	5.37:g.140626038T>A	ENSP00000231173:p.Ser298Thr						p.S298T	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	892	+			298			Cadherin 3.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.892T>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.283625	0.00251	.	.	ENSG00000113248	ENST00000231173	T	0.44482	0.92	5.07	2.17	0.27698	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.02357	-0.585	0.09310	N	1	B	0.12630	0.006	B	0.21546	0.035	T	0.36187	-0.9758	9	0.02654	T	1	.	4.5546	0.12130	0.4747:0.0948:0.0:0.4306	.	298	Q9Y5E8	PCDBF_HUMAN	T	298	ENSP00000231173:S298T	ENSP00000231173:S298T	S	+	1	0	PCDHB15	140606222	0.004000	0.15560	0.091000	0.20842	0.376000	0.30014	1.902000	0.39848	0.853000	0.35312	-0.669000	0.03829	TCA		0.403	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		10	427	0	0	0	1	0	10	427					A	140626038	T	A	140626038	3	1	50	1	0	0	0	0	1	0	0	0	11582	1783	62	5	894	5	PCDHB15	5	140626038	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	16641279	140626038	40289222	58	6137											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793564	140793564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagccaccgacagggaCgaaggtgccaatggagaagt	14	10	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140793564C>T	ENST00000398610.2	+	1	822	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	274	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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGGACGAAGGTGCCA	0.458																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(820-822)gaC>gaT									32	35	34					5																	140793564		1980	4176	6156	SO:0001819	synonymous_variant	0							g.chr5:140793564C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.822C>T	5.37:g.140793564C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	p.D274D	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	822	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.822C>T	CCDS47292.1																																																																																				0.458	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		8	111	0	0	0	1	0	8	111					T	140793564	C	T	140793564	2	4	50	1	0	0	0	0	0	0	0	1	11593	535	19	1		1	PCDHGA10	5	140793564	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	167526	140793564	40121696	59	6138											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040819	147040819	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctggatctctccatcacGtaccttcaccgtccttgaca	5	17	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:147040819G>C	ENST00000265272.5	-	3	786	c.319C>G	c.(319-321)Cgt>Ggt	p.R107G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	107						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCATCACGTACCTTCACC	0.557																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(319-321)Cgt>Ggt		janus kinase and microtubule interacting protein 2							187	176	180					5																	147040819		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040819G>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.319C>G	5.37:g.147040819G>C	ENSP00000265272:p.Arg107Gly					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G	p.R107G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	786	-			107					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.319C>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126056	0.20959	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35421	1.31;1.31;1.31	4.67	3.71	0.42584	.	0.059973	0.64402	D	0.000003	T	0.24160	0.0585	N	0.24115	0.695	0.38983	D	0.95898	B;B;B;B	0.32396	0.15;0.369;0.369;0.239	B;B;B;B	0.29176	0.045;0.099;0.099;0.099	T	0.23013	-1.0200	10	0.66056	D	0.02	.	12.4034	0.55426	0.0:0.0:0.6863:0.3137	.	65;107;107;107	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	107;107;65;107	ENSP00000421398:R107G;ENSP00000265272:R107G;ENSP00000328989:R65G	ENSP00000265272:R107G	R	-	1	0	JAKMIP2	147021012	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.826000	0.62715	2.529000	0.85273	0.563000	0.77884	CGT		0.557	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		439	430	0	0	0	1	0	439	430					C	147040819	G	C	147040819	3	2	50	1	0	0	0	0	1	0	0	0	7971	1145	40	5	2189	5	JAKMIP2	5	147040819	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6247255	147040819	33874441	60	6139											
ADRB2	154	broad.mit.edu	37	chr5	148206693	148206693	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattcttatgaaaatgtggaCttttggcaacttctggtgcg	10	6	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:148206693C>G	ENST00000305988.4	+	1	538	c.299C>G	c.(298-300)aCt>aGt	p.T100S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	100					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	AAAATGTGGACTTTTGGCAAC	0.527																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(298-300)aCt>aGt		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						111	103	106					5																	148206693		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206693C>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.299C>G	5.37:g.148206693C>G	ENSP00000305372:p.Thr100Ser						p.T100S	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	538	+			100					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.299C>G	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702511	0.03255	.	.	ENSG00000169252	ENST00000305988	T	0.19105	2.17	5.4	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.415884	0.28459	N	0.015270	T	0.06508	0.0167	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.09590	T	0.72	.	4.9026	0.13782	0.5116:0.2522:0.1675:0.0686	.	100	P07550	ADRB2_HUMAN	S	100	ENSP00000305372:T100S	ENSP00000305372:T100S	T	+	2	0	ADRB2	148186886	0.024000	0.19004	0.917000	0.36280	0.995000	0.86356	0.638000	0.24674	-0.152000	0.11156	0.655000	0.94253	ACT		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		9	231	0	0	0	1	0	9	231					G	148206693	C	G	148206693	3	3	50	1	0	0	0	0	1	0	0	0	341	565	20	5	301	5	ADRB2	5	148206693	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1165874	148206693	32708567	61	6140											
PDGFRB	5159	broad.mit.edu	37	chr5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C													tcggctggggcatgccccggINSccacgacagcggactgtctg							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)ggcfs	p.G438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1312-1314)gcgfs		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149510155_149510156insC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1314dupG	5.37:g.149510157_149510157dupC	ENSP00000261799:p.Gly438fs		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.A438fs	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1782_1783	-		all_hematologic(541;0.224)	438			Ig-like C2-type 5.		B5A957|Q8N5L4	Frame_Shift_Ins	INS	ENST00000261799.4	37	c.1313_1314insG	CCDS4303.1																																																																																				0.614	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		19	763						19	763	---	---	---	---	C	149510156	-	C	149510155	7	5	50	1	0	1	1	0	0	0	0	0	11704	1190	42	0	2066	0	PDGFRB	5	149510155	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	1303462	149510155	31405105	62	6141											
HAVCR2	84868	broad.mit.edu	37	chr5	156535950	156535950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttacttgtaagtagtagCagcagcagcagcaggacaca	11	9	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_Silent_p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-45)ctG>ctA		hepatitis A virus cellular receptor 2							135	120	126					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156535950C>T	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T						CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L	p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	15					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.45G>A	CCDS4333.1																																																																																				0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	197	0	0	0	1	0	5	197					T	156535950	C	T	156535950	2	4	50	1	0	0	0	0	0	0	0	1	7004	697	25	2		2	HAVCR2	5	156535950	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7025795	156535950	24379310	63	6142											
RBM24	221662	broad.mit.edu	37	chr6	17292038	17292038	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgtgcagccgggagtggtCattccacacgtccagccgac	12	13	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:17292038C>G	ENST00000379052.5	+	4	635	c.399C>G	c.(397-399)gtC>gtG	p.V133V	RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Silent_p.V88V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	133					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CGGGAGTGGTCATTCCACACG	0.542																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(397-399)gtC>gtG		RNA binding motif protein 24							87	101	96					6																	17292038		2176	4286	6462	SO:0001819	synonymous_variant	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292038C>G	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.399C>G	6.37:g.17292038C>G						RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000508508.1_3'UTR	p.V133V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	635	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	133					E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	37	c.399C>G	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329137	0.24167	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3684	3.4813	0.07603	0.3218:0.4196:0.1748:0.0839	.	.	.	.	X	98	.	.	S	+	2	0	RBM24	17400017	0.303000	0.24463	0.997000	0.53966	0.998000	0.95712	-0.217000	0.09253	0.020000	0.15106	0.591000	0.81541	TCA		0.542	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		11	522	0	0	0	1	0	11	522					G	17292038	C	G	17292038	2	3	50	1	0	0	0	0	0	0	0	1	13174	813	29	5		5	RBM24	6	17292038	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		17292038	153823029	64	6143											
DAAM2	23500	broad.mit.edu	37	chr6	39866704	39866704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaggggcctgagagcGgtggaggtggtgagtacctt	19	7	1	2	rs370996980	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:39866704G>A	ENST00000398904.2	+	22	2852	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Silent_p.A890A|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	890	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCTGAGAGCGGTGGAGGTGG	0.577													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2668-2670)gcG>gcA		dishevelled associated activator of morphogenesis 2		G	,	1,4139		0,1,2069	87	104	98		2670,2670	-10.7	0.3	6		98	0,8426		0,0,4213	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6282	AA,AG,GG		0.0,0.0242,0.0080	,	890/1069,890/1068	39866704	1,12565	2070	4213	6283	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39866704G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2670G>A	6.37:g.39866704G>A						RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A|DAAM2_ENST00000398904.2_Silent_p.A890A	p.A890A	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			22	2852	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		890			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2670G>A	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			11	40	0	0	0	1	0	11	40					A	39866704	G	A	39866704	2	1	50	1	0	0	0	0	0	0	0	1	4227	1103	39	1		1	DAAM2	6	39866704	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	22574666	39866704	131248363	65	6144											
KLHL32	114792	broad.mit.edu	37	chr6	97423967	97423967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagaggagtgatggcAtcctctgcgacatcaccctg	11	12	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:97423967A>G	ENST00000369261.4	+	3	481	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	40										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAGTGATGGCATCCTCTGCGA	0.507																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(118-120)Atc>Gtc		kelch-like family member 32							99	77	85					6																	97423967		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97423967A>G	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.118A>G	6.37:g.97423967A>G	ENSP00000358265:p.Ile40Val					KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V|KLHL32_ENST00000544166.1_5'UTR	p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	3	481	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	40					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.118A>G	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.865093	0.32977	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.14	3.98	0.46160	BTB/POZ (1);BTB/POZ fold (2);	0.319047	0.33834	N	0.004507	T	0.35158	0.0922	N	0.25201	0.72	0.80722	D	1	B;B;B;B	0.15719	0.0;0.0;0.014;0.008	B;B;B;B	0.19666	0.0;0.0;0.015;0.026	T	0.26744	-1.0094	10	0.30854	T	0.27	.	11.1181	0.48273	0.917:0.0:0.083:0.0	.	40;40;40;40	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	V	40	ENSP00000358265:I40V;ENSP00000440382:I40V;ENSP00000441527:I40V;ENSP00000358258:I40V	ENSP00000358258:I40V	I	+	1	0	KLHL32	97530688	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	2.905000	0.48727	2.159000	0.67721	0.482000	0.46254	ATC		0.507	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		4	118	0	0	0	1	0	4	118					G	97423967	A	G	97423967	3	3	50	1	0	0	0	0	1	0	0	0	8416	217	8	4	124	4	KLHL32	6	97423967	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	57557263	97423967	73691100	66	6145											
HACE1	57531	broad.mit.edu	37	chr6	105198307	105198307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgatctgaggctgaatggctCttgtcattcgaagttcagta	11	7	4	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:105198307C>G	ENST00000262903.4	-	20	2528	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGAATGGCTCTTGTCATTCG	0.368																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2251-2253)aGa>aCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							112	104	107					6																	105198307		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198307C>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2252G>C	6.37:g.105198307C>G	ENSP00000262903:p.Arg751Thr					HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR	p.R751T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2528	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	751			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2252G>C	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872626	0.72180	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.56776	0.44;0.44	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.25286	0.73	0.34010	D	0.651392	B;P;D;D	0.59357	0.347;0.901;0.985;0.981	B;P;D;D	0.69824	0.387;0.453;0.966;0.943	T	0.36456	-0.9747	10	0.17369	T	0.5	.	18.6385	0.91386	0.0:1.0:0.0:0.0	.	536;240;751;404	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	T	751;536	ENSP00000262903:R751T;ENSP00000358121:R536T	ENSP00000262903:R751T	R	-	2	0	HACE1	105305000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.473000	0.83533	0.563000	0.77884	AGA		0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		12	159	0	0	0	1	0	12	159					G	105198307	C	G	105198307	3	3	50	1	0	0	0	0	1	0	0	0	6970	913	32	5	497	5	HACE1	6	105198307	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7774340	105198307	65916760	67	6146											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	8	13	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189	181	184					6																	147685192		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	542	0	0	0	1	0	6	542					T	147685192	C	T	147685192	3	4	50	1	0	0	0	0	1	0	0	0	15408	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	42486885	147685192	23429875	68	6147											
THBS2	7058	broad.mit.edu	37	chr6	169639743	169639743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaaggatggactggcGcaggttgcaggcgggcaggt	17	9	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:169639743G>A	ENST00000366787.3	-	8	1329	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	360	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATGGACTGGCGCAGGTTGCAG	0.512																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1078-1080)tgC>tgT		thrombospondin 2							84	62	69					6																	169639743		2201	4298	6499	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169639743G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1080C>T	6.37:g.169639743G>A							p.C360C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	8	1329	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	360			VWFC.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1080C>T	CCDS34574.1																																																																																				0.512	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	53	0	0	0	1	0	5	53					A	169639743	G	A	169639743	2	1	50	1	0	0	0	0	0	0	0	1	15906	1079	38	1		1	THBS2	6	169639743	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	21954551	169639743	1475324	69	6148											
SDK1	221935	broad.mit.edu	37	chr7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaggcagacagccagaacGaaacggagaaaatgaaggtc	15	7	0	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1749	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5245-5247)Gaa>Aaa		sidekick cell adhesion molecule 1							79	79	79					7																	4247761		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4247761G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5245G>A	7.37:g.4247761G>A	ENSP00000385899:p.Glu1749Lys					SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	p.E1749K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5384	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1749			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5245G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302508	0.23736	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53640	0.61;0.61	4.67	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.667620	0.13455	N	0.386599	T	0.41604	0.1166	M	0.66560	2.04	0.28442	N	0.916768	P;B;B	0.37158	0.585;0.034;0.249	B;B;B	0.29524	0.103;0.015;0.082	T	0.33394	-0.9870	10	0.22706	T	0.39	.	12.5036	0.55970	0.0817:0.0:0.9183:0.0	.	1729;236;1749	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1749;1729	ENSP00000385899:E1749K;ENSP00000374182:E1729K	ENSP00000374182:E1729K	E	+	1	0	SDK1	4214287	1.000000	0.71417	0.571000	0.28486	0.426000	0.31534	4.633000	0.61318	2.302000	0.77476	0.655000	0.94253	GAA		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		16	271	0	0	0	1	0	16	271					A	4247761	G	A	4247761	3	1	50	1	0	0	0	0	1	0	0	0	14018	1059	37	1	5391	1	SDK1	7	4247761	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		4247761	154890902	70	6149											
PEG10	23089	broad.mit.edu	37	chr7	94293789	94293789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcactacgctgacaaTtgtcctgccaaggcctcaaa	10	12	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:94293789T>A	ENST00000482108.1	+	2	1400	c.921T>A	c.(919-921)aaT>aaA	p.N307K	PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	307					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACGCTGACAATTGTCCTGCCA	0.582																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(919-921)aaT>aaA		paternally expressed 10							20	25	24					7																	94293789		1953	4145	6098	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293789T>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.921T>A	7.37:g.94293789T>A	ENSP00000417587:p.Asn307Lys					PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1400	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		307					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.921T>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279380	0.23307	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.76186	-1.0;-1.0	4.42	1.51	0.23008	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.54013	0.1832	N	0.19112	0.55	0.22684	N	0.998851	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.002	T	0.36163	-0.9759	9	0.29301	T	0.29	.	4.0781	0.09914	0.0:0.5347:0.1743:0.291	.	383;307	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	307	ENSP00000417587:N307K;ENSP00000418944:N307K	ENSP00000417587:N307K	N	+	3	2	PEG10	94131725	0.214000	0.23563	0.998000	0.56505	0.920000	0.55202	0.218000	0.17622	0.203000	0.20529	-0.262000	0.10625	AAT		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		11	40	0	0	0	1	0	11	40					A	94293789	T	A	94293789	3	1	50	1	0	0	0	0	1	0	0	0	11761	1490	52	5	1155	5	PEG10	7	94293789	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	90046028	94293789	64844874	71	6150											
PTCD1	26024	broad.mit.edu	37	chr7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-													tcagagagggtcccaaaactCtcctcctcctcctcgtcttc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		8	725						8	725	---	---	---	---	-	99032607	CTC	-	99032605	7	5	50	1	0	1	0	1	0	0	0	0	12774	912	32	0	1869	0	PTCD1	7	99032605	In_Frame_Del	DEL	CTC	TCGA-FB-AAPU-01A-31D-A40W-08	4738816	99032605	60106058	72	6151											
ZAN	7455	broad.mit.edu	37	chr7	100350550	100350550	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatctccacagaaaaacTcaccatccccacagaaaaac	2	16	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_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.L941P(1)		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)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	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								zonadhesin (gene/pseudogene)							260	315	297					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	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.100350550T>C						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	759	0	0	0	1	0	7	759					C	100350550	T	C	100350550	1	2	50	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350550	RNA	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	1317945	100350550	58788113	73	6152											
MUC17	140453	broad.mit.edu	37	chr7	100676663	100676663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacaactcctgttgacTccaacactcctgtgaccact	4	15	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:100676663T>A	ENST00000306151.4	+	3	2030	c.1966T>A	c.(1966-1968)Tcc>Acc	p.S656T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	656	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)					TCCTGTTGACTCCAACACTCC	0.478																																						ENST00000306151.4																			0				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						c.(1966-1968)Tcc>Acc		mucin 17, cell surface associated							272	277	275					7																	100676663		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676663T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1966T>A	7.37:g.100676663T>A	ENSP00000302716:p.Ser656Thr						p.S656T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2030	+	Lung NSC(181;0.136)|all_lung(186;0.182)		656			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1966T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.471	-0.559865	0.03967	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.22	-2.37	0.06643	.	.	.	.	.	T	0.00936	0.0031	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45600	-0.9250	9	0.02654	T	1	.	2.1548	0.03809	0.3429:0.0:0.179:0.4781	.	656	Q685J3	MUC17_HUMAN	T	656	ENSP00000302716:S656T	ENSP00000302716:S656T	S	+	1	0	MUC17	100463383	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.798000	0.01747	-0.525000	0.06391	-2.563000	0.00173	TCC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	1458	0	0	0	1	0	10	1458					A	100676663	T	A	100676663	3	1	50	1	0	0	0	0	1	0	0	0	10015	1551	54	5	1976	5	MUC17	7	100676663	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	326113	100676663	58462000	74	6153											
PRSS1	5644	broad.mit.edu	37	chr7	142459745	142459747	+	In_Frame_Del	DEL	CAT	CAT	-													aggaagactctgaacaatgaCatcatgttaatcaagctctc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142459745_142459747delCAT	ENST00000311737.7	+	3	327_329	c.321_323delCAT	c.(319-324)gacatc>gac	p.I108del	PRSS1_ENST00000486171.1_In_Frame_Del_p.I122del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	108	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGAACAATGACATCATGTTAATC	0.547																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(361-366)gac>ga		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459745_142459747delCAT	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.321_323delCAT	7.37:g.142459748_142459750delCAT	ENSP00000308720:p.Ile108del					PRSS1_ENST00000311737.7_In_Frame_Del_p.DI107del	p.DI121del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	380_382	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	107			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.363_365delCAT	CCDS5872.1																																																																																				0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			313	458						313	458	---	---	---	---	-	142459747	CAT	-	142459745	7	5	50	1	0	1	0	1	0	0	0	0	12661	477	17	0	331	0	PRSS1	7	142459745	In_Frame_Del	DEL	CAT	TCGA-FB-AAPU-01A-31D-A40W-08	41783082	142459745	16678918	75	6154											
PRSS1	5644	broad.mit.edu	37	chr7	142460367	142460369	+	In_Frame_Del	DEL	CAG	CAG	-													tcctaccctggaaagattacCagcaacatgttctgtgtggg					rs376907511|rs201719096		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142460367_142460369delCAG	ENST00000311737.7	+	4	546_548	c.540_542delCAG	c.(538-543)accagc>acc	p.S181del	PRSS1_ENST00000486171.1_In_Frame_Del_p.S195del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GAAAGATTACCAGCAACATGTTC	0.557																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(580-585)acc>ac		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460367_142460369delCAG	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.540_542delCAG	7.37:g.142460367_142460369delCAG	ENSP00000308720:p.Ser181del					PRSS1_ENST00000311737.7_In_Frame_Del_p.TS180del	p.TS194del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	599_601	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	180			Peptidase S1.	Required for specificity (By similarity).	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.582_584delCAG	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			34	1065						34	1065	---	---	---	---	-	142460369	CAG	-	142460367	7	5	50	1	0	1	0	1	0	0	0	0	12661	581	21	0	554	0	PRSS1	7	142460367	In_Frame_Del	DEL	CAG	TCGA-FB-AAPU-01A-31D-A40W-08	622	142460367	16678296	76	6155											
GIMAP1	170575	broad.mit.edu	37	chr7	150417597	150417597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgattacgtgagcaacAcagagaaccgggccttgcgc	12	12	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150417597A>C	ENST00000307194.5	+	3	645	c.505A>C	c.(505-507)Aca>Cca	p.T169P		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	169	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGAGCAACACAGAGAACCG	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(505-507)Aca>Cca		GTPase, IMAP family member 1							53	56	55					7																	150417597		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417597A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.505A>C	7.37:g.150417597A>C	ENSP00000302833:p.Thr169Pro						p.T169P	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	645	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.505A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407461	0.25378	.	.	ENSG00000213203	ENST00000307194	T	0.60672	0.17	4.81	1.04	0.20106	AIG1 (1);	0.325956	0.28431	U	0.015380	T	0.63307	0.2500	M	0.64170	1.965	0.09310	N	1	P	0.47910	0.902	P	0.61397	0.888	T	0.53493	-0.8431	10	0.56958	D	0.05	.	3.4499	0.07494	0.5502:0.0:0.0968:0.353	.	169	Q8WWP7	GIMA1_HUMAN	P	169	ENSP00000302833:T169P	ENSP00000302833:T169P	T	+	1	0	GIMAP1	150048530	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.636000	0.24644	0.033000	0.15463	-0.309000	0.09137	ACA		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		86	325	0	0	0	1	0	86	325					C	150417597	A	C	150417597	3	2	50	1	0	0	0	0	1	0	0	0	6408	159	6	4	511	4	GIMAP1	7	150417597	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	7957230	150417597	8721066	77	6156											
NOS3	4846	broad.mit.edu	37	chr7	150699033	150699033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctggggagactcttcCggaaggcttttgatccccgg	14	11	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150699033C>T	ENST00000484524.1	+	12	1627	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000297494.3_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACTCTTCCGGAAGGCTTT	0.632																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1627-1629)Cgg>Tgg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						35	39	38					7																	150699033		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699033C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1627C>T	7.37:g.150699033C>T	ENSP00000420215:p.Arg543Trp					NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000484524.1_Missense_Mutation_p.R543W|NOS3_ENST00000467517.1_Missense_Mutation_p.R543W	p.R543W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1984	+	all_neural(206;0.219)		543			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1627C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660722	0.67700	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.8	3.9	0.45041	Flavodoxin/nitric oxide synthase (2);	0.118708	0.35772	N	0.002998	D	0.86230	0.5883	M	0.88377	2.95	0.33655	D	0.609001	D;D;D;D;D	0.76494	0.999;0.999;0.988;0.997;0.997	D;D;D;D;P	0.70716	0.917;0.97;0.97;0.948;0.892	D	0.90621	0.4559	10	0.72032	D	0.01	-20.3273	10.4856	0.44719	0.3522:0.6478:0.0:0.0	.	543;543;543;337;543	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	543;337;543;543	ENSP00000297494:R543W;ENSP00000417143:R337W;ENSP00000420215:R543W;ENSP00000420551:R543W	ENSP00000297494:R543W	R	+	1	2	NOS3	150329966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.991000	0.29654	1.123000	0.41961	0.655000	0.94253	CGG		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		164	212	0	0	0	1	0	164	212					T	150699033	C	T	150699033	3	4	50	1	0	0	0	0	1	0	0	0	10586	643	23	1	1673	1	NOS3	7	150699033	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	281436	150699033	8439630	78	6157											
ADRA1A	148	broad.mit.edu	37	chr8	26722090	26722090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacgatggttgggtagcGcagcgggtagctcacgccga	18	9	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:26722090G>A	ENST00000519229.1	-	1	403	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	203					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTTGGGTAGCGCAGCGGGTAG	0.617																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(397-399)Cgc>Tgc		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						73	73	73					8																	26722090		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722090G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.397C>T	8.37:g.26722090G>A	ENSP00000430793:p.Arg133Cys					ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C	p.R133C			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1420	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	133					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	G	18.33	3.599366	0.66332	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.058843	0.64402	D	0.000001	T	0.67429	0.2892	M	0.89214	3.015	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.75020	0.975;0.975;0.973;0.975;0.95;0.985	T	0.73585	-0.3936	10	0.87932	D	0	.	11.6903	0.51512	0.0:0.0:0.7031:0.2969	.	133;133;133;133;133;133	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	C	133	ENSP00000369960:R133C;ENSP00000369961:R133C;ENSP00000369956:R133C;ENSP00000369955:R133C;ENSP00000430793:R133C;ENSP00000346557:R133C;ENSP00000276393:R133C;ENSP00000369947:R133C;ENSP00000369946:R133C;ENSP00000351725:R133C	ENSP00000276393:R133C	R	-	1	0	ADRA1A	26778007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.027000	0.64109	2.423000	0.82170	0.563000	0.77884	CGC		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		48	148	0	0	0	1	0	48	148					A	26722090	G	A	26722090	3	1	50	1	0	0	0	0	1	0	0	0	334	1087	38	1	1302	1	ADRA1A	8	26722090	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		26722090	119641932	79	6158											
EXTL3	2137	broad.mit.edu	37	chr8	28575489	28575489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggactggctttcggcCtattggtggtggagctgggg	18	8	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28575489C>A	ENST00000220562.4	+	3	2815	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	638					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCTTTCGGCCTATTGGTGGT	0.557																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1912-1914)cCt>cAt		exostosin-like glycosyltransferase 3							81	80	80					8																	28575489		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575489C>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1913C>A	8.37:g.28575489C>A	ENSP00000220562:p.Pro638His					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	p.P638H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2815	+		Ovarian(32;0.069)	638					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1913C>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896758	0.72639	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97016	-3.64;-4.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98335	1.0535	10	0.87932	D	0	-20.1467	20.2982	0.98569	0.0:1.0:0.0:0.0	.	638	O43909	EXTL3_HUMAN	H	254;638	ENSP00000428691:P254H;ENSP00000220562:P638H	ENSP00000220562:P638H	P	+	2	0	EXTL3	28631408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.567000	0.82357	2.873000	0.98535	0.563000	0.77884	CCT		0.557	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		72	213	1	0	5.44642e-36	1	6.17803e-36	72	213					A	28575489	C	A	28575489	3	1	50	1	0	0	0	0	1	0	0	0	5345	681	24	3	1915	3	EXTL3	8	28575489	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1853399	28575489	117788533	80	6159											
INTS9	55756	broad.mit.edu	37	chr8	28717081	28717081	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccctgacaggcaataCtgaaaaaaattaaatcactt	8	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28717081C>A	ENST00000521022.1	-	2	91		c.e2-1		INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000416984.2_Splice_Site|INTS9_ENST00000397363.4_Intron	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9						snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		ACAGGCAATACTGAAAAAAAT	0.383																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.e2-1		integrator complex subunit 9							126	112	116					8																	28717081		2203	4300	6503	SO:0001630	splice_region_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28717081C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.10-1G>T	8.37:g.28717081C>A						INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000521022.1_Splice_Site		NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	2	369	-		Ovarian(32;0.0439)						B7Z560|B7Z6M5|O00224|Q8TB16	Splice_Site	SNP	ENST00000521022.1	37		CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162573	0.57368	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000523436	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS9	28773000	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.720000	0.84759	2.456000	0.83038	0.655000	0.94253	.		0.383	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	Intron	29	93	1	0	8.88839e-20	1	9.74305e-20	29	93					A	28717081	C	A	28717081	5	1	50	1	0	0	0	0	0	0	1	0	7815	579	20	3	2031	3	INTS9	8	28717081	Splice_Site	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	141592	28717081	117646941	81	6160											
TEX15	56154	broad.mit.edu	37	chr8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-													gtgatctttgcatttcaaccTtttttggcgttaaatgattt					rs571456178		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)aagfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					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)					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)		CATTTCAACCTTTTTTGGCGT	0.388																																						ENST00000256246.2																			0				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						c.(7159-7161)agfs		testis expressed 15							183	183	183					8																	30695491		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695491delT	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.7160delA	8.37:g.30695491delT	ENSP00000256246:p.Lys2387fs						p.K2387fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7160delA	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	511						9	511	---	---	---	---	-	30695491	T	-	30695491	7	5	50	1	0	1	0	1	0	0	0	0	15831	1609	56	0	1217	0	TEX15	8	30695491	Frame_Shift_Del	DEL	T	TCGA-FB-AAPU-01A-31D-A40W-08	1978410	30695491	115668531	82	6161											
KCNQ3	3786	broad.mit.edu	37	chr8	133184899	133184899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgcttctgacggtgTtgctcctgcaccttgagggc	12	11	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:133184899T>A	ENST00000388996.4	-	7	1506	c.1086A>T	c.(1084-1086)caA>caT	p.Q362H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	362					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGACGGTGTTGCTCCTGCA	0.587																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1084-1086)caA>caT		potassium voltage-gated channel, KQT-like subfamily, member 3							193	146	162					8																	133184899		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133184899T>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1086A>T	8.37:g.133184899T>A	ENSP00000373648:p.Gln362His					KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	p.Q362H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		7	1506	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		362					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1086A>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525173	0.64747	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99186	-5.52;-5.44;-5.53	5.0	-2.3	0.06785	.	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	L	0.56396	1.775	0.46654	D	0.999145	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	D	0.97346	0.9960	10	0.87932	D	0	-21.3538	11.8756	0.52546	0.0:0.3411:0.0:0.6589	.	362;362	E7ET42;O43525	.;KCNQ3_HUMAN	H	362;242;362;351;241	ENSP00000373648:Q362H;ENSP00000429799:Q242H;ENSP00000428790:Q362H	ENSP00000373648:Q362H	Q	-	3	2	KCNQ3	133254081	0.890000	0.30428	0.991000	0.47740	0.984000	0.73092	0.009000	0.13219	-0.300000	0.08895	-0.315000	0.08773	CAA		0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		154	229	0	0	0	1	0	154	229					A	133184899	T	A	133184899	3	1	50	1	0	0	0	0	1	0	0	0	8114	1722	60	5	1568	5	KCNQ3	8	133184899	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	102489408	133184899	13179123	83	6162											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		8	181						8	181	---	---	---	---	T	21007046	-	T	21007045	7	5	50	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08		21007045	120206386	84	6163											
PRSS3	5646	broad.mit.edu	37	chr9	33798572	33798574	+	In_Frame_Del	DEL	CAG	CAG	-													taccctggaaagattaccaaCagcatgttctgtgtgggctt					rs201773718		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:33798572_33798574delCAG	ENST00000361005.5	+	4	714_716	c.714_716delCAG	c.(712-717)aacagc>aac	p.S239del	PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000342836.4_In_Frame_Del_p.S196del|PRSS3_ENST00000379405.3_In_Frame_Del_p.S182del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_In_Frame_Del_p.S175del	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGATTACCAACAGCATGTTCTGT	0.576																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(712-717)aac>aa		protease, serine, 3																																				SO:0001651	inframe_deletion	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33798572_33798574delCAG		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.714_716delCAG	9.37:g.33798572_33798574delCAG	ENSP00000354280:p.Ser239del					PRSS3_ENST00000379405.3_In_Frame_Del_p.NS181del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000429677.3_In_Frame_Del_p.NS174del|PRSS3_ENST00000342836.4_In_Frame_Del_p.NS195del	p.NS238del	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		4	714_716	+			238			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	In_Frame_Del	DEL	ENST00000361005.5	37	c.714_716delCAG	CCDS47958.1																																																																																				0.576	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		13	722						13	722	---	---	---	---	-	33798574	CAG	-	33798572	7	5	50	1	0	1	0	1	0	0	0	0	12669	477	17	0	772	0	PRSS3	9	33798572	In_Frame_Del	DEL	CAG	TCGA-FB-AAPU-01A-31D-A40W-08	12791527	33798572	107414859	85	6164											
CCIN	881	broad.mit.edu	37	chr9	36170825	36170825	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggttatatctcccgggtCggggtagtggactgctttga	14	7	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36170825C>T	ENST00000335119.2	+	1	1437	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTCCCGGGTCGGGGTAGTGG	0.552																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1324-1326)gtC>gtT		calicin							115	96	102					9																	36170825		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170825C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1326C>T	9.37:g.36170825C>T							p.V442V	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1437	+			442					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1326C>T	CCDS6599.1																																																																																				0.552	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		80	193	0	0	0	1	0	80	193					T	36170825	C	T	36170825	2	4	50	1	0	0	0	0	0	0	0	1	2885	871	31	1		1	CCIN	9	36170825	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2372253	36170825	105042606	86	6165											
RNF38	152006	broad.mit.edu	37	chr9	36351123	36351123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctactaacctcgtaattttCtacttctccatcttctacat	1	13	5	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351123C>G	ENST00000259605.6	-	9	1359	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000357058.3_Missense_Mutation_p.E335Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q|RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	418					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TCGTAATTTTCTACTTCTCCA	0.378																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1003-1005)Gaa>Caa		ring finger protein 38							86	82	83					9																	36351123		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351123C>G		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1252G>C	9.37:g.36351123C>G	ENSP00000259605:p.Glu418Gln					RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000259605.6_Missense_Mutation_p.E418Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q	p.E335Q	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1609	-			418			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1003G>C	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499260	0.85069	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.16073	2.37;2.4;2.41;2.41;2.41;2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;D	0.87578	0.998;0.958;0.995	T	0.22138	-1.0225	10	0.66056	D	0.02	-6.4143	16.4624	0.84064	0.0:1.0:0.0:0.0	.	342;368;418	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	Q	418;368;335;335;335;235;342;342	ENSP00000259605:E418Q;ENSP00000335239:E368Q;ENSP00000367117:E335Q;ENSP00000349566:E335Q;ENSP00000343947:E335Q;ENSP00000367109:E342Q	ENSP00000259605:E418Q	E	-	1	0	RNF38	36341123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.553000	0.86117	0.563000	0.77884	GAA		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		19	45	0	0	0	1	0	19	45					G	36351123	C	G	36351123	3	3	50	1	0	0	0	0	1	0	0	0	13540	922	32	5	311	5	RNF38	9	36351123	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	180298	36351123	104862308	87	6166											
RNF38	152006	broad.mit.edu	37	chr9	36351150	36351150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatcttctacatctaattCaaagctgaaagttgggccca	6	11	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351150C>T	ENST00000259605.6	-	9	1332	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000357058.3_Missense_Mutation_p.E326K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K|RNF38_ENST00000353739.4_Missense_Mutation_p.E359K	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	409					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACATCTAATTCAAAGCTGAAA	0.358																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(976-978)Gaa>Aaa		ring finger protein 38							82	78	79					9																	36351150		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351150C>T		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1225G>A	9.37:g.36351150C>T	ENSP00000259605:p.Glu409Lys					RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000259605.6_Missense_Mutation_p.E409K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K	p.E326K	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1582	-			409			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.976G>A	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451466	0.84209	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	L	0.40543	1.245	0.80722	D	1	P;B;P	0.47910	0.82;0.38;0.902	P;B;P	0.46110	0.504;0.291;0.504	T	0.54596	-0.8270	10	0.54805	T	0.06	-6.5436	16.4624	0.84064	0.0:1.0:0.0:0.0	.	333;359;409	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	K	409;359;326;326;326;226;333;333	ENSP00000259605:E409K;ENSP00000335239:E359K;ENSP00000367117:E326K;ENSP00000349566:E326K;ENSP00000343947:E326K;ENSP00000367109:E333K	ENSP00000259605:E409K	E	-	1	0	RNF38	36341150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.061000	0.76699	2.553000	0.86117	0.563000	0.77884	GAA		0.358	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		25	53	0	0	0	1	0	25	53					T	36351150	C	T	36351150	3	4	50	1	0	0	0	0	1	0	0	0	13540	835	29	2	338	2	RNF38	9	36351150	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	27	36351150	104862281	88	6167											
PCSK5	5125	broad.mit.edu	37	chr9	78686787	78686787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagcccccctcacccgGcaagcctttgaaaacggcgt	10	17	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:78686787G>A	ENST00000545128.1	+	7	1405	c.867G>A	c.(865-867)cgG>cgA	p.R289R	PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	289	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCTCACCCGGCAAGCCTTTG	0.507																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(865-867)cgG>cgA		proprotein convertase subtilisin/kexin type 5							112	117	115					9																	78686787		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686787G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.867G>A	9.37:g.78686787G>A						PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1405	+			289			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.867G>A	CCDS55320.1																																																																																				0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	646	0	0	0	1	0	7	646					A	78686787	G	A	78686787	2	1	50	1	0	0	0	0	0	0	0	1	11645	1190	42	2		2	PCSK5	9	78686787	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	42335637	78686787	62526644	89	6168											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			7	147						7	147	---	---	---	---	-	102590618	CAC	-	102590616	7	5	50	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-FB-AAPU-01A-31D-A40W-08	23903829	102590616	38622815	90	6169											
TEX10	54881	broad.mit.edu	37	chr9	103090198	103090198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagccaagatgagcaagttGcaatggtaagccagccagcc	13	10	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:103090198G>C	ENST00000374902.4	-	8	1848	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	558						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGCAAGTTGCAATGGTAAG	0.398																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1672-1674)Caa>Gaa		testis expressed 10							97	82	87					9																	103090198		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090198G>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1672C>G	9.37:g.103090198G>C	ENSP00000364037:p.Gln558Glu					TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	p.Q558E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1848	-		Acute lymphoblastic leukemia(62;0.0527)	558					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1672C>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593958	0.86953	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.34521	1.04	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.993	D;D;P	0.72982	0.97;0.979;0.708	T	0.63171	-0.6697	9	0.29301	T	0.29	-6.3079	19.0215	0.92917	0.0:0.0:1.0:0.0	.	561;426;558	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	E	561;558;426	.	ENSP00000364037:Q558E	Q	-	1	0	TEX10	102130019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.932000	0.92897	2.494000	0.84150	0.655000	0.94253	CAA		0.398	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		63	110	0	0	0	1	0	63	110					C	103090198	G	C	103090198	3	2	50	1	0	0	0	0	1	0	0	0	15824	1328	46	5	1149	5	TEX10	9	103090198	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	499582	103090198	38123233	91	6170											
ABCA1	19	broad.mit.edu	37	chr9	107591266	107591282	+	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-													ctactaatgaaccagctaaaCcagaggatgctgttgtccag					rs144845639|rs2853579	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	ENST00000374736.3	-	15	2424_2440	c.2030_2046delACAACAGCATCCTCTGG	c.(2029-2046)gacaacagcatcctctggfs	p.DNSILW677fs	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT	0.539																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2029-2046)gfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2030_2046delACAACAGCATCCTCTGG	9.37:g.107591266_107591282delCCAGAGGATGCTGTTGT	ENSP00000363868:p.Asp677fs					ABCA1_ENST00000494467.1_5'UTR	p.DNSILW677fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2424_2440	-			677					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.2030_2046delACAACAGCATCCTCTGG	CCDS6762.1																																																																																				0.539	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		22	191						22	191	---	---	---	---	-	107591282	CCAGAGGATGCTGTTGT	-	107591266	7	5	50	1	0	1	0	1	0	0	0	0	28	508	18	0	4883	0	ABCA1	9	107591266	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	TCGA-FB-AAPU-01A-31D-A40W-08	4501068	107591266	33622165	92	6171											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacttcacatgatccGcaacaggggaaggcaaaagt	10	9	1	1	rs201598200		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130	118	121		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		5	356	0	0	0	1	0	5	356					A	111970268	G	A	111970268	3	1	50	1	0	0	0	0	1	0	0	0	5174	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	4379002	111970268	29243163	93	6172											
AMBP	259	broad.mit.edu	37	chr9	116837247	116837247	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactccacttactggatttGtgatagagaaacttcccatc	6	12	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:116837247G>C	ENST00000265132.3	-	3	592	c.330C>G	c.(328-330)caC>caG	p.H110Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	110					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TACTGGATTTGTGATAGAGAA	0.438																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(328-330)caC>caG		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						177	151	160					9																	116837247		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116837247G>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.330C>G	9.37:g.116837247G>C	ENSP00000265132:p.His110Gln						p.H110Q	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			3	592	-			110					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.330C>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195027	0.58017	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.07444	3.19	5.43	2.45	0.29901	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.579014	0.19553	N	0.111528	T	0.19406	0.0466	M	0.83953	2.67	0.37815	D	0.928163	D;D	0.60575	0.988;0.966	P;P	0.56343	0.796;0.617	T	0.05084	-1.0907	10	0.38643	T	0.18	.	4.7856	0.13223	0.1675:0.0:0.6611:0.1713	.	51;110	B7Z8R6;P02760	.;AMBP_HUMAN	Q	110;51	ENSP00000265132:H110Q	ENSP00000265132:H110Q	H	-	3	2	AMBP	115877068	0.031000	0.19500	0.934000	0.37439	0.845000	0.48019	0.132000	0.15891	0.686000	0.31488	0.561000	0.74099	CAC		0.438	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		86	209	0	0	0	1	0	86	209					C	116837247	G	C	116837247	3	2	50	1	0	0	0	0	1	0	0	0	564	1368	48	5	760	5	AMBP	9	116837247	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	4866979	116837247	24376184	94	6173											
ASTN2	23245	broad.mit.edu	37	chr9	120053699	120053699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgggccagctgcccggagCtgctcatggagacgtggaag	16	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:120053699C>A	ENST00000313400.4	-	2	636	c.536G>T	c.(535-537)aGc>aTc	p.S179I	ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I			O75129	ASTN2_HUMAN	astrotactin 2	179					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCCCGGAGCTGCTCATGGA	0.592																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(535-537)aGc>aTc		astrotactin 2							65	63	63					9																	120053699		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:120053699C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.536G>T	9.37:g.120053699C>A	ENSP00000314038:p.Ser179Ile					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I	p.S179I			O75129	ASTN2_HUMAN			2	636	-			179					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.536G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.209137	0.79240	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11495	2.8;2.8;2.77	5.58	5.58	0.84498	.	0.141111	0.56097	D	0.000032	T	0.15046	0.0363	N	0.19112	0.55	0.38032	D	0.935204	P;P;D	0.61080	0.911;0.855;0.989	P;B;P	0.58820	0.563;0.36;0.846	T	0.08126	-1.0737	9	.	.	.	-29.8448	13.1929	0.59722	0.0:0.9271:0.0:0.0729	.	179;179;179	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	179	ENSP00000314038:S179I;ENSP00000363108:S179I;ENSP00000354504:S179I	.	S	-	2	0	ASTN2	119093520	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.132000	0.50523	2.782000	0.95742	0.655000	0.94253	AGC		0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		52	342	1	0	5.73376e-24	1	6.31544e-24	52	342					A	120053699	C	A	120053699	3	1	50	1	0	0	0	0	1	0	0	0	1066	797	28	3	3646	3	ASTN2	9	120053699	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	3216452	120053699	21159732	95	6174											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642985	1642985	+	Silent	SNP	G	G	A													ccccccttggaacccccacaGgagccacagccccccttgga							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(337-339)tcC>tcT		keratin associated protein 5-4							8	18	15					11																	1642985		664	1522	2186	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642985G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.339C>T	11.37:g.1642985G>A							p.S113S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	383	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	113			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.339C>T																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	414	0	0	0	1	0	6	414					A	1642985	G	A	1642985	2	1	50	1	0	0	0	0	0	0	0	1	8594	987	35	2		2	KRTAP5-4	11	1642985	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1642985	133363531	96	6175	43	2									
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642992	1642992	+	Missense_Mutation	SNP	C	C	T													tggaacccccacaggagccaCagccccccttggagccccca							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:1642992C>T	ENST00000399682.1	-	1	376	c.332G>A	c.(331-333)tGt>tAt	p.C111Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGGAGCCACAGCCCCCCTT	0.672																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(331-333)tGt>tAt		keratin associated protein 5-4							8	17	14					11																	1642992		650	1515	2165	SO:0001583	missense	387267					keratin filament		g.chr11:1642992C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.332G>A	11.37:g.1642992C>T	ENSP00000382590:p.Cys111Tyr						p.C111Y	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	376	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	111			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.332G>A		.	.	.	.	.	.	.	.	.	.	C	7.750	0.703101	0.15172	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00882	5.58	3.38	3.38	0.38709	.	.	.	.	.	T	0.03390	0.0098	M	0.91972	3.26	0.29034	N	0.885525	B	0.29862	0.259	B	0.36244	0.22	T	0.00675	-1.1615	9	0.49607	T	0.09	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	171	Q6L8H1	KRA54_HUMAN	Y	111	ENSP00000382590:C111Y	ENSP00000331603:C111Y	C	-	2	0	KRTAP5-4	1599568	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.124000	0.50461	1.573000	0.49748	0.579000	0.79373	TGT		0.672	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	394	0	0	0	1	0	7	394					T	1642992	C	T	1642992	3	4	50	1	0	0	0	0	1	0	0	0	8594	478	17	2	358	2	KRTAP5-4	11	1642992	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7	1642992	133363524	97	6176	43	2									
OR56A3	390083	broad.mit.edu	37	chr11	5969013	5969013	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcactgatcactttgtagTcaaggctgccatgtttattt	7	9	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5969013T>A	ENST00000329564.6	+	1	444	c.437T>A	c.(436-438)gTc>gAc	p.V146D	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTTGTAGTCAAGGCTGCC	0.448																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(436-438)gTc>gAc		olfactory receptor, family 56, subfamily A, member 3							150	148	149					11																	5969013		2200	4296	6496	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969013T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.437T>A	11.37:g.5969013T>A	ENSP00000331572:p.Val146Asp						p.V146D	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	146					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.437T>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	4.194	0.034682	0.08101	.	.	ENSG00000184478	ENST00000329564	T	0.39406	1.08	5.13	-0.302	0.12796	GPCR, rhodopsin-like superfamily (1);	0.277746	0.18223	U	0.147820	T	0.43809	0.1264	M	0.82056	2.57	0.18873	N	0.999989	B	0.26041	0.14	B	0.34779	0.189	T	0.48927	-0.8991	10	0.72032	D	0.01	-6.0991	5.5314	0.16987	0.1326:0.4555:0.0:0.4119	.	146	Q8NH54	O56A3_HUMAN	D	146	ENSP00000331572:V146D	ENSP00000331572:V146D	V	+	2	0	OR56A3	5925589	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.036000	0.00308	-0.225000	0.09913	-1.200000	0.01667	GTC		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		147	309	0	0	0	1	0	147	309					A	5969013	T	A	5969013	3	1	50	1	0	0	0	0	1	0	0	0	11176	1667	58	5	439	5	OR56A3	11	5969013	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	4326021	5969013	129037503	98	6177											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340448	6340448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcagccccaggtctcccgGgatcttcctcggtgtcctgc	12	17	2	0	rs144277485		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6340448G>C	ENST00000303927.3	-	2	901	c.731C>G	c.(730-732)cCc>cGc	p.P244R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	244					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTCTCCCGGGATCTTCCTC	0.667																																						ENST00000303927.3																			0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(730-732)cCc>cGc		protein kinase C, delta binding protein		G	ARG/PRO	1,4401	2.1+/-5.4	0,1,2200	106	118	114		731	3.8	1	11	dbSNP_134	114	0,8592		0,0,4296	no	missense	PRKCDBP	NM_145040.2	103	0,1,6496	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	244/262	6340448	1,12993	2201	4296	6497	SO:0001583	missense	112464							g.chr11:6340448G>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.731C>G	11.37:g.6340448G>C	ENSP00000307292:p.Pro244Arg					PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	p.P244R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	901	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	244						Missense_Mutation	SNP	ENST00000303927.3	37	c.731C>G	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335765	0.60853	2.27E-4	0.0	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.52754	0.65;1.51	4.8	3.82	0.43975	.	0.451085	0.21593	N	0.072064	T	0.43765	0.1262	L	0.27053	0.805	0.31928	N	0.612567	P	0.44429	0.835	P	0.50825	0.651	T	0.54186	-0.8331	10	0.72032	D	0.01	-10.4875	9.4925	0.38969	0.0:0.0:0.7895:0.2105	.	244	Q969G5	PRDBP_HUMAN	R	244;276	ENSP00000307292:P244R;ENSP00000432047:P276R	ENSP00000307292:P244R	P	-	2	0	PRKCDBP	6297024	0.780000	0.28664	1.000000	0.80357	0.728000	0.41692	2.227000	0.42972	2.226000	0.72624	0.561000	0.74099	CCC		0.667	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		17	600	0	0	0	1	0	17	600					C	6340448	G	C	6340448	3	2	50	1	0	0	0	0	1	0	0	0	12557	1232	43	5	58	5	PRKCDBP	11	6340448	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	371435	6340448	128666068	99	6178											
FXC1	26515	broad.mit.edu	37	chr11	6503419	6503419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgccaggcgttgctgctGaacagcctggggtctctcca	13	13	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6503419G>A	ENST00000254616.6	+	3	350	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K|ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000445086.2_5'Flank|TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000396777.3_5'Flank|ARFIP2_ENST00000423813.2_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	94					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										CGTTGCTGCTGAACAGCCTGG	0.637																																						ENST00000254616.6																			0											c.(280-282)Gaa>Aaa		translocase of inner mitochondrial membrane 10 homolog B (yeast)							35	33	34					11																	6503419		2201	4296	6497	SO:0001583	missense	26515							g.chr11:6503419G>A	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"fracture callus 1 (rat) homolog", "fracture callus 1 homolog (rat)"	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.280G>A	11.37:g.6503419G>A	ENSP00000254616:p.Glu94Lys					TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K	p.E94K	NM_012192.3	NP_036324.1					3	350	+								Q96FF3	Missense_Mutation	SNP	ENST00000254616.6	37	c.280G>A	CCDS7766.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014229	0.54468	.	.	ENSG00000132286	ENST00000254616;ENST00000530751;ENST00000531462;ENST00000533379	T;T;T;T	0.35973	1.44;1.28;1.28;1.44	5.76	2.72	0.32119	.	0.405610	0.28470	N	0.015234	T	0.23611	0.0571	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12837	-1.0532	10	0.26408	T	0.33	-20.1978	13.9594	0.64170	0.0:0.4417:0.5583:0.0	.	94	Q9Y5J6	TIM9B_HUMAN	K	94;62;62;94	ENSP00000254616:E94K;ENSP00000436579:E62K;ENSP00000433087:E62K;ENSP00000436948:E94K	ENSP00000254616:E94K	E	+	1	0	FXC1	6459995	0.631000	0.27164	0.263000	0.24496	0.501000	0.33797	2.224000	0.42945	0.377000	0.24735	0.655000	0.94253	GAA		0.637	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		35	124	0	0	0	1	0	35	124					A	6503419	G	A	6503419	3	1	50	1	0	0	0	0	1	0	0	0	6140	1291	45	2	290	2	FXC1	11	6503419	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	162971	6503419	128503097	100	6179											
EIF3F	8665	broad.mit.edu	37	chr11	8014505	8014505	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacagccgagaggcccccaAccccatccacctcactgtgg	8	19	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:8014505A>C	ENST00000533626.1	+	6	1213	c.587A>C	c.(586-588)aAc>aCc	p.N196T	EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCCCCCAACCCCATCCAC	0.557																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(586-588)aAc>aCc		eukaryotic translation initiation factor 3, subunit F							104	95	98					11																	8014505		2201	4293	6494	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014505A>C	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.587A>C	11.37:g.8014505A>C	ENSP00000431800:p.Asn196Thr					EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T	p.N196T			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1213	+			196			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.587A>C	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586482	0.86851	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.47869	1.39;1.39;1.39;0.83	4.97	4.97	0.65823	.	0.042963	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77406	2.37	0.80722	D	1	D	0.56521	0.976	D	0.67725	0.953	T	0.71490	-0.4577	10	0.66056	D	0.02	-18.8904	13.2394	0.59987	1.0:0.0:0.0:0.0	.	196	O00303	EIF3F_HUMAN	T	196;211;196;146;47	ENSP00000431800:N196T;ENSP00000442283:N211T;ENSP00000310040:N196T;ENSP00000396929:N47T	ENSP00000310040:N196T	N	+	2	0	EIF3F	7971081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.158000	0.67659	0.460000	0.39030	AAC		0.557	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		9	364	0	0	0	1	0	9	364					C	8014505	A	C	8014505	3	2	50	1	0	0	0	0	1	0	0	0	5034	43	2	4	601	4	EIF3F	11	8014505	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	1511086	8014505	126992011	101	6180											
AMPD3	272	broad.mit.edu	37	chr11	10500085	10500085	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctcttagaaagaaaagtttCaagatgattcggtcccagtc	9	8	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:10500085C>G	ENST00000396554.3	+	3	602	c.261C>G	c.(259-261)ttC>ttG	p.F87L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	78					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAAAGTTTCAAGATGATTC	0.537																																						ENST00000396554.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(259-261)ttC>ttG		adenosine monophosphate deaminase 3							156	186	176					11																	10500085		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500085C>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.261C>G	11.37:g.10500085C>G	ENSP00000379802:p.Phe87Leu					AMPD3_ENST00000444303.2_Intron	p.F87L	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	602	+			78					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.261C>G	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538677	0.45176	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.6	3.69	0.42338	.	0.092497	0.85682	D	0.000000	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.10917	-1.0609	10	0.18276	T	0.48	-21.7032	8.8973	0.35472	0.0:0.7682:0.0:0.2318	.	85;78;87	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	78;87;78;78;85;78	ENSP00000432707:F78L;ENSP00000379802:F87L;ENSP00000433284:F78L;ENSP00000379801:F78L;ENSP00000436987:F85L;ENSP00000431648:F78L	ENSP00000379801:F78L	F	+	3	2	AMPD3	10456661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	0.690000	0.31570	0.643000	0.83706	TTC		0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		33	1077	0	0	0	1	0	33	1077					G	10500085	C	G	10500085	3	3	50	1	0	0	0	0	1	0	0	0	587	825	29	5	291	5	AMPD3	11	10500085	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2485580	10500085	124506431	102	6181											
KCNC1	3746	broad.mit.edu	37	chr11	17794037	17794037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattccgcggccaccgcagCtgggatctcccaattattgt	9	13	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:17794037C>A	ENST00000379472.3	+	2	1426	c.1396C>A	c.(1396-1398)Ctg>Atg	p.L466M	KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCACCGCAGCTGGGATCTCC	0.448																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1396-1398)Ctg>Atg		potassium voltage-gated channel, Shaw-related subfamily, member 1							51	59	56					11																	17794037		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794037C>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1396C>A	11.37:g.17794037C>A	ENSP00000368785:p.Leu466Met					KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1426	+			466					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1396C>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639495	0.29157	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97279	-4.32;-4.3	5.24	5.24	0.73138	.	0.155348	0.45606	D	0.000355	D	0.96978	0.9013	L	0.39020	1.185	0.49915	D	0.999838	B;D	0.60160	0.116;0.987	B;P	0.61070	0.062;0.883	D	0.96559	0.9414	10	0.35671	T	0.21	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	466;466	Q3KNS8;P48547	.;KCNC1_HUMAN	M	466	ENSP00000265969:L466M;ENSP00000368785:L466M	ENSP00000265969:L466M	L	+	1	2	KCNC1	17750613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.445000	0.82738	0.561000	0.74099	CTG		0.448	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		87	172	1	0	1.01459e-35	1	1.14519e-35	87	172					A	17794037	C	A	17794037	3	1	50	1	0	0	0	0	1	0	0	0	8044	796	28	3	1402	3	KCNC1	11	17794037	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7293952	17794037	117212479	103	6182											
OR5A1	219982	broad.mit.edu	37	chr11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T													ttgtgggctgtgctgctcagINSttttttttctttgtcggcat					rs370698632		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.51	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	595						8	595	---	---	---	---	T	59210951	-	T	59210950	7	5	50	1	0	1	1	0	0	0	0	0	11181	1020	36	0	311	0	OR5A1	11	59210950	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	41416913	59210950	75795566	104	6183											
PC	5091	broad.mit.edu	37	chr11	66638342	66638342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctctgagtaggcccGggtgtaattctcctccagct	11	13	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:66638342G>C	ENST00000393958.2	-	7	748	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000393960.1_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	219	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAGTAGGCCCGGGTGTAATTC	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Cgg>Ggg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						93	109	104					11																	66638342		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638342G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.655C>G	11.37:g.66638342G>C	ENSP00000377530:p.Arg219Gly					PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393958.2_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	p.R219G	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	8	936	-		Melanoma(852;0.0525)	219			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.655C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886144	0.72410	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55	5.29	3.36	0.38483	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.50993	1.605	0.58432	D	0.999999	D	0.69078	0.997	D	0.72625	0.978	D	0.97373	0.9977	10	0.87932	D	0	-25.086	11.4232	0.49993	0.0:0.0:0.5249:0.4751	.	219	P11498	PYC_HUMAN	G	219;219;219;179;219	ENSP00000377527:R219G;ENSP00000377530:R219G;ENSP00000377532:R219G;ENSP00000434192:R179G;ENSP00000347900:R219G	ENSP00000347900:R219G	R	-	1	2	PC	66394918	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.531000	0.45650	0.584000	0.29591	0.462000	0.41574	CGG		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		5	605	0	0	0	1	0	5	605					C	66638342	G	C	66638342	3	2	50	1	0	0	0	0	1	0	0	0	11539	1115	39	5	2945	5	PC	11	66638342	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	7427392	66638342	68368174	105	6184											
UCP3	7352	broad.mit.edu	37	chr11	73718034	73718034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgctgtgcctgccccCaggaacttcacagccatggt	11	15	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:73718034C>T	ENST00000314032.4	-	2	606	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	18					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGCCTGCCCCCAGGAACTTCA	0.597																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(52-54)ctG>ctA		uncoupling protein 3 (mitochondrial, proton carrier)							100	76	84					11																	73718034		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73718034C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.54G>A	11.37:g.73718034C>T						UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			2	606	-	Breast(11;2.08e-05)		18					O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.54G>A	CCDS8229.1																																																																																				0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		41	83	0	0	0	1	0	41	83					T	73718034	C	T	73718034	2	4	50	1	0	0	0	0	0	0	0	1	16986	581	21	2		2	UCP3	11	73718034	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7079692	73718034	61288482	106	6185											
BIRC2	329	broad.mit.edu	37	chr11	102221640	102221640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtgttgggaatctggagatGatccatgggtagaacatgcc	15	6	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:102221640G>C	ENST00000227758.2	+	3	2360	c.961G>C	c.(961-963)Gat>Cat	p.D321H	BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H|BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	321					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATCTGGAGATGATCCATGGGT	0.383																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(961-963)Gat>Cat		baculoviral IAP repeat containing 2							330	311	317					11																	102221640		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221640G>C	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.961G>C	11.37:g.102221640G>C	ENSP00000227758:p.Asp321His					BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H	p.D321H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	2360	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	321					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.961G>C	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175075	0.78564	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.05786	3.39;3.39;3.39	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52238	-0.8602	10	0.87932	D	0	-17.6801	20.2019	0.98263	0.0:0.0:1.0:0.0	.	321	Q13490	BIRC2_HUMAN	H	272;321;321;300	ENSP00000431723:D272H;ENSP00000227758:D321H;ENSP00000434979:D300H	ENSP00000227758:D321H	D	+	1	0	BIRC2	101726850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.428000	0.73383	2.776000	0.95493	0.655000	0.94253	GAT		0.383	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		11	682	0	0	0	1	0	11	682					C	102221640	G	C	102221640	3	2	50	1	0	0	0	0	1	0	0	0	1437	1290	45	5	967	5	BIRC2	11	102221640	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	28503606	102221640	32784876	107	6186											
RAD52	5893	broad.mit.edu	37	chr12	1023204	1023204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcagaggtctgggctgGgtctgctctagacgagggct	17	8	4	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:1023204G>C	ENST00000358495.3	-	11	1189	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	351					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCTGGGCTGGGTCTGCTCTA	0.527								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1051-1053)Cca>Gca	Homologous recombination	RAD52 homolog (S. cerevisiae)							142	132	135					12																	1023204		1987	4151	6138	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023204G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1051C>G	12.37:g.1023204G>C	ENSP00000351284:p.Pro351Ala					RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000535376.1_5'UTR	p.P351A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1189	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		351					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1051C>G	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438716	0.25900	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.36878	1.65;1.65;1.23	5.11	1.13	0.20643	.	0.341611	0.34245	N	0.004125	T	0.28001	0.0690	L	0.52364	1.645	0.19300	N	0.999976	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	10	0.59425	D	0.04	-14.8336	6.5135	0.22234	0.163:0.2837:0.5532:0.0	.	351	P43351	RAD52_HUMAN	A	351;351;274	ENSP00000351284:P351A;ENSP00000387901:P351A;ENSP00000445245:P274A	ENSP00000351284:P351A	P	-	1	0	RAD52	893465	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.129000	0.10515	0.378000	0.24764	0.561000	0.74099	CCA		0.527	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		9	346	0	0	0	1	0	9	346					C	1023204	G	C	1023204	3	2	50	1	0	0	0	0	1	0	0	0	13041	1232	43	5	213	5	RAD52	12	1023204	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1023204	132828691	108	6187											
TULP3	7289	broad.mit.edu	37	chr12	3042674	3042674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatttatctcgtgaaggaGaaagttatgtcggcaagctt	11	5	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:3042674G>A	ENST00000448120.2	+	7	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	263					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCGTGAAGGAGAAAGTTATGT	0.398																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(787-789)Gaa>Aaa		tubby like protein 3							130	118	122					12																	3042674		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3042674G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.787G>A	12.37:g.3042674G>A	ENSP00000410051:p.Glu263Lys					TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		7	838	+			263					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.787G>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082869	0.76642	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.85702	-2.02;-2.02	5.3	3.42	0.39159	Tubby, C-terminal (4);	0.254970	0.46442	D	0.000292	D	0.88775	0.6528	M	0.72479	2.2	0.50632	D	0.999881	P;P;D	0.59357	0.755;0.868;0.985	P;P;P	0.59288	0.752;0.854;0.855	D	0.87634	0.2518	10	0.72032	D	0.01	-0.7952	9.1654	0.37048	0.0765:0.0:0.7778:0.1457	.	120;263;263	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	K	263;120;263;263	ENSP00000410051:E263K;ENSP00000380321:E263K	ENSP00000228245:E263K	E	+	1	0	TULP3	2912935	1.000000	0.71417	0.878000	0.34440	0.654000	0.38779	7.869000	0.87170	0.573000	0.29400	0.561000	0.74099	GAA		0.398	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		51	112	0	0	0	1	0	51	112					A	3042674	G	A	3042674	3	1	50	1	0	0	0	0	1	0	0	0	16829	943	33	2	813	2	TULP3	12	3042674	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2019470	3042674	130809221	109	6188											
KIAA0528	9847	broad.mit.edu	37	chr12	22637787	22637787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcatatggtatatgaCaaaatccacaacgtgtaggc	8	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:22637787C>A	ENST00000333957.4	-	13	1649	c.1394G>T	c.(1393-1395)tGt>tTt	p.C465F	C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	465					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TGGTATATGACAAAATCCACA	0.279																																						ENST00000333957.4																			0											c.(1393-1395)tGt>tTt		C2 calcium-dependent domain containing 5							77	73	74					12																	22637787		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22637787C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1394G>T	12.37:g.22637787C>A	ENSP00000334229:p.Cys465Phe					C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F	p.C465F	NM_014802.1	NP_055617.1					13	1649	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1394G>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.616724|2.616724	0.46736|0.46736	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1;0.1|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D|.	0.76494|.	0.849;0.995;0.995;0.996;0.999;0.966|.	P;P;D;D;D;P|.	0.85130|.	0.61;0.903;0.963;0.94;0.997;0.735|.	T|T	0.66806|0.66806	-0.5830|-0.5830	10|5	0.35671|.	T|.	0.21|.	-7.9035|-7.9035	18.8114|18.8114	0.92059|0.92059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	467;465;280;467;456;465|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	F|F	465;465;467;456;465;478;280|162	ENSP00000334229:C465F;ENSP00000388756:C465F;ENSP00000439392:C467F;ENSP00000379345:C456F;ENSP00000441951:C465F;ENSP00000443204:C478F;ENSP00000445288:C280F|.	ENSP00000334229:C465F|.	C|L	-|-	2|3	0|2	KIAA0528|KIAA0528	22529054|22529054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	5.318000|5.318000	0.65829|0.65829	2.422000|2.422000	0.82143|0.82143	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.279	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		15	163	1	0	3.41278e-10	1	3.63605e-10	15	163					A	22637787	C	A	22637787	3	1	50	1	0	0	0	0	1	0	0	0	8212	478	17	3	1660	3	KIAA0528	12	22637787	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	19595113	22637787	111214108	110	6189											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		47	88	0	0	0	1	0	47	88					G	25398285	C	G	25398285	3	3	50	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2760498	25398285	108453610	111	6190											
PTPRB	5801	broad.mit.edu	37	chr12	71029558	71029558	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccactactctggagCcttgtttctggagaaagaga	10	9	3	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:71029558C>T	ENST00000283228.2	-	0	3529				PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D|PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.G115D	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACTCTGGAGCCTTGTTTCTG	0.493																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(343-345)gGc>gAc		protein tyrosine phosphatase, receptor type, B							56	53	54					12																	71029558		1894	4118	6012	SO:0001628	intergenic_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029558C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029558C>T						PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D	p.G115D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	388	-	Renal(347;0.236)		0			Fibronectin type-III 2.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.344G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636488	0.29068	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30182	1.54;1.54;1.54	6.04	4.22	0.49857	.	.	.	.	.	T	0.31796	0.0808	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.52463	0.953;0.661;0.947;0.947	P;P;P;P	0.51657	0.661;0.508;0.676;0.676	T	0.04796	-1.0926	9	0.56958	D	0.05	.	12.2951	0.54842	0.0:0.8621:0.0:0.1379	.	115;114;115;115	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	D	115;115;115;114	ENSP00000334928:G115D;ENSP00000448058:G115D;ENSP00000448349:G114D	ENSP00000334928:G115D	G	-	2	0	PTPRB	69315825	1.000000	0.71417	0.552000	0.28243	0.080000	0.17528	3.104000	0.50306	0.876000	0.35872	-0.244000	0.11960	GGC		0.493	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		39	78	0	0	0	1	0	39	78					T	71029558	C	T	71029558	1	4	50	0	1	0	0	0	0	0	0	0	12846	739	26	2		2	PTPRB	12	71029558	IGR	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	45631273	71029558	62822337	112	6191											
CABP1	9478	broad.mit.edu	37	chr12	121098645	121098645	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatgctttccgagaggTaacggacagaggcaggcagg	17	8	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121098645T>C	ENST00000316803.3	+	4	1073		c.e4+2		CABP1_ENST00000453000.1_Splice_Site|CABP1_ENST00000351200.2_Splice_Site|CABP1_ENST00000288616.3_Splice_Site	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCGAGAGGTAACGGACAGA	0.498																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.e4+2		calcium binding protein 1							113	110	111					12																	121098645		2203	4300	6503	SO:0001630	splice_region_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098645T>C	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.939+2T>C	12.37:g.121098645T>C						CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000316803.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site				Q9NZU7	CABP1_HUMAN			4	1259	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							O95663|Q8N6H5|Q9NZU8	Splice_Site	SNP	ENST00000316803.3	37		CCDS31913.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177845	0.57692	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	.	.	.	5.25	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0835	0.25244	0.1314:0.0726:0.0:0.796	.	.	.	.	.	-1	.	.	.	+	.	.	CABP1	119583028	0.809000	0.29036	0.875000	0.34327	0.825000	0.46686	0.594000	0.24014	0.850000	0.35239	0.528000	0.53228	.		0.498	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677	Intron	23	297	0	0	0	1	0	23	297					C	121098645	T	C	121098645	5	2	50	1	0	0	0	0	0	0	1	0	2538	1652	57	4	1188	4	CABP1	12	121098645	Splice_Site	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	50069087	121098645	12753250	113	6192											
BRCA2	675	broad.mit.edu	37	chr13	32937480	32937480	+	Frame_Shift_Del	DEL	A	A	-													aactagtagtgcagatacccAaaaagtggccattattgaac					rs80359059		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:32937480delA	ENST00000380152.3	+	18	8374	c.8141delA	c.(8140-8142)caafs	p.Q2714fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.Q2714fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2714					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCAGATACCCAAAAAGTGGCC	0.398			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8140-8142)cafs	Homologous recombination	breast cancer 2, early onset							138	135	136					13																	32937480		2203	4300	6503	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937480delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8141delA	13.37:g.32937480delA	ENSP00000369497:p.Gln2714fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.Q2714fs	p.Q2714fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8368	+		Lung SC(185;0.0262)	2714					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.8141delA	CCDS9344.1																																																																																				0.398	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		137	340						137	340	---	---	---	---	-	32937480	A	-	32937480	7	5	50	1	0	1	0	1	0	0	0	0	1503	130	5	0	8207	0	BRCA2	13	32937480	Frame_Shift_Del	DEL	A	TCGA-FB-AAPU-01A-31D-A40W-08		32937480	82232398	114	6193											
OXGR1	27199	broad.mit.edu	37	chr13	97639242	97639242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgaccctcaagatatGgaagggtaaaaaacatacgt	9	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:97639242G>T	ENST00000298440.1	-	4	1015	c.772C>A	c.(772-774)Cat>Aat	p.H258N	OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	258					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTCAAGATATGGAAGGGTAAA	0.438																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(772-774)Cat>Aat		oxoglutarate (alpha-ketoglutarate) receptor 1							110	106	107					13																	97639242		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639242G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.772C>A	13.37:g.97639242G>T	ENSP00000298440:p.His258Asn					OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1015	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		258					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.772C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617808	0.66787	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38077	1.16;1.16	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.42581	1.335	0.39180	D	0.962769	D	0.89917	1.0	D	0.91635	0.999	T	0.22347	-1.0219	10	0.06757	T	0.87	.	15.3005	0.73945	0.0:0.0:0.8601:0.1399	.	258	Q96P68	OXGR1_HUMAN	N	258	ENSP00000298440:H258N;ENSP00000438800:H258N	ENSP00000298440:H258N	H	-	1	0	OXGR1	96437243	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.455000	0.73497	2.937000	0.99478	0.650000	0.86243	CAT		0.438	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		6	266	1	0	1	1	1	6	266					T	97639242	G	T	97639242	3	4	50	1	0	0	0	0	1	0	0	0	11374	1348	47	3	245	3	OXGR1	13	97639242	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	64701762	97639242	17530636	115	6194											
POTEG	404785	broad.mit.edu	37	chr14	19566012	19566012	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattacaattttatacatagAatttgccagttactttctga	4	6	1	2	rs542455346	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:19566012A>C	ENST00000409832.3	+	6	1108	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTATACATAGAATTTGCCAGT	0.269													A|||	2	0.000399361	0.0	0.0	5008	,	,		35095	0.0		0.0	False		,,,				2504	0.002					ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e6-1		POTE ankyrin domain family, member G							38	47	44					14																	19566012		1464	2606	4070	SO:0001630	splice_region_variant	404785							g.chr14:19566012A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1056-1A>C	14.37:g.19566012A>C						CTD-2311B13.5_ENST00000548748.1_lincRNA	p.V352_splice	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			6	1108	+			352					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	c.1055_splice	CCDS32018.1																																																																																				0.269	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Silent	4	313	0	0	0	1	0	4	313					C	19566012	A	C	19566012	5	2	50	1	0	0	0	0	0	0	1	0	12308	260	9	4	1078	4	POTEG	14	19566012	Splice_Site	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08		19566012	87783528	116	6195											
MAP4K5	11183	broad.mit.edu	37	chr14	50911762	50911762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctagccataccaaTagaagaagtctctgccacag	7	10	1	2	rs55815015	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:50911762T>C	ENST00000013125.4	-	18	1654	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	446			I -> V (in dbSNP:rs55815015). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GCCATACCAATAGAAGAAGTC	0.413													T|||	9	0.00179712	0.0	0.0	5008	,	,		16081	0.0089		0.0	False		,,,				2504	0.0					ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1336-1338)Att>Gtt		mitogen-activated protein kinase kinase kinase kinase 5							87	81	83					14																	50911762		1850	4093	5943	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50911762T>C	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1336A>G	14.37:g.50911762T>C	ENSP00000013125:p.Ile446Val						p.I446V	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			18	1654	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		446		I -> V (in dbSNP:rs55815015).			Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1336A>G		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	T	8.406	0.843090	0.16963	.	.	ENSG00000012983	ENST00000013125	T	0.13657	2.57	5.38	-0.756	0.11057	Protein kinase-like domain (1);	0.528155	0.20244	N	0.096221	T	0.03095	0.0091	N	0.08118	0	0.36535	D	0.870936	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.41305	-0.9516	10	0.15952	T	0.53	.	4.6228	0.12463	0.1045:0.0688:0.2378:0.5889	rs55815015	120;446;446	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	446	ENSP00000013125:I446V	ENSP00000013125:I446V	I	-	1	0	MAP4K5	49981512	0.750000	0.28316	0.991000	0.47740	0.887000	0.51463	-0.221000	0.09202	-0.008000	0.14320	-0.323000	0.08544	ATT		0.413	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		11	125	0	0	0	1	0	11	125					C	50911762	T	C	50911762	3	2	50	1	0	0	0	0	1	0	0	0	9304	1406	49	4	1264	4	MAP4K5	14	50911762	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	31345750	50911762	56437778	117	6196											
BDKRB2	624	broad.mit.edu	37	chr14	96703485	96703485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaatgtttctgtctgttcGtgaggactccgtgcccacca	9	12	3	1	rs200131401		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:96703485G>A	ENST00000306005.3	+	2	237	c.41G>A	c.(40-42)cGt>cAt	p.R14H	BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	14			R -> C (in dbSNP:rs1046248). {ECO:0000269|PubMed:7779090, ECO:0000269|Ref.8}.		arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGTCTGTTCGTGAGGACTCC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.0					ENST00000306005.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(40-42)cGt>cAt		bradykinin receptor B2							196	157	170					14																	96703485		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96703485G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.41G>A	14.37:g.96703485G>A	ENSP00000307713:p.Arg14His					RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H	p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	2	237	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	14		R -> C (in dbSNP:rs1046248).				Missense_Mutation	SNP	ENST00000306005.3	37	c.41G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247970	0.39697	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.71934	-0.61;-0.61;1.71	3.71	-2.22	0.06952	.	2.399830	0.01945	N	0.042183	T	0.41050	0.1142	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.05351	T	0.99	.	0.5426	0.00648	0.3331:0.1884:0.2948:0.1837	.	14	P30411	BKRB2_HUMAN	H	14	ENSP00000450482:R14H;ENSP00000307713:R14H;ENSP00000450984:R14H	ENSP00000307713:R14H	R	+	2	0	RP11-404P21.8;BDKRB2	95773238	0.019000	0.18553	0.000000	0.03702	0.002000	0.02628	-0.001000	0.12947	-0.415000	0.07484	-1.880000	0.00545	CGT		0.527	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			7	210	0	0	0	1	0	7	210					A	96703485	G	A	96703485	3	1	50	1	0	0	0	0	1	0	0	0	1394	1145	40	1	43	1	BDKRB2	14	96703485	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	45791723	96703485	10646055	118	6197											
C15orf23	90417	broad.mit.edu	37	chr15	40682085	40682085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagctgctggagaagtttCgggacaactgtttggcaatt	13	6	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:40682085C>T	ENST00000249776.8	+	6	755	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KNSTRN_ENST00000608100.1_Missense_Mutation_p.R136W|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W|KNSTRN_ENST00000416151.2_Missense_Mutation_p.R214W	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GGAGAAGTTTCGGGACAACTG	0.522																																						ENST00000416151.2																			0											c.(640-642)Cgg>Tgg		kinetochore-localized astrin/SPAG5 binding protein							128	136	134					15																	40682085		2002	4179	6181	SO:0001583	missense	90417							g.chr15:40682085C>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.640C>T	15.37:g.40682085C>T	ENSP00000249776:p.Arg214Trp					KNSTRN_ENST00000249776.8_Missense_Mutation_p.R214W|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W	p.R214W	NM_001142761.1	NP_001136233.1					6	755	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.640C>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529534	0.85706	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.26067	1.76;1.76;1.76	5.21	5.21	0.72293	.	0.159640	0.43579	D	0.000542	T	0.23330	0.0564	N	0.08118	0	0.27533	N	0.951024	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.53649	0.731;0.731;0.648	T	0.09751	-1.0660	10	0.72032	D	0.01	-4.4014	14.1201	0.65182	0.0:1.0:0.0:0.0	.	214;214;214	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	W	214	ENSP00000249776:R214W;ENSP00000391233:R214W;ENSP00000393001:R214W	ENSP00000249776:R214W	R	+	1	2	C15orf23	38469377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.416000	0.44644	2.696000	0.92011	0.655000	0.94253	CGG		0.522	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		97	200	0	0	0	1	0	97	200					T	40682085	C	T	40682085	3	4	50	1	0	0	0	0	1	0	0	0	1790	875	31	1	662	1	C15orf23	15	40682085	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		40682085	61849307	119	6198											
CPEB1	64506	broad.mit.edu	37	chr15	83215935	83215935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctccacaaaagcagcGctgactgctttcaggtaact	8	11	2	2	rs374011661		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83215935G>T	ENST00000562019.1	-	10	1783	c.1467C>A	c.(1465-1467)agC>agA	p.S489R	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000563800.1_Missense_Mutation_p.S511R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	489	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAGCAGCGCTGACTGCTT	0.463																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1531-1533)agC>agA		cytoplasmic polyadenylation element binding protein 1							92	87	89					15																	83215935		1918	4146	6064	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215935G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1467C>A	15.37:g.83215935G>T	ENSP00000457836:p.Ser489Arg					RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000562019.1_Missense_Mutation_p.S489R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R	p.S511R			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		10	3258	-			489			Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1533C>A		.	.	.	.	.	.	.	.	.	.	g	14.03	2.412804	0.42817	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.18	-2.21	0.06973	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.284954	0.37348	U	0.002129	T	0.10723	0.0262	N	0.14661	0.345	0.44736	D	0.997731	B;B;B;B	0.25351	0.124;0.024;0.021;0.024	B;B;B;B	0.20184	0.015;0.01;0.028;0.01	T	0.08493	-1.0719	10	0.54805	T	0.06	-7.0429	11.4101	0.49921	0.5705:0.0:0.4295:0.0	.	487;484;489;484	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	484;484;409;414;487;258	ENSP00000397526:S409R;ENSP00000381591:S414R;ENSP00000261723:S487R;ENSP00000381592:S258R	ENSP00000261723:S487R	S	-	3	2	CPEB1	81012990	0.145000	0.22656	0.984000	0.44739	0.985000	0.73830	-0.371000	0.07513	-0.518000	0.06452	-0.423000	0.05987	AGC		0.463	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		207	169	1	0	3.20401e-112	1	3.68947e-112	207	169					T	83215935	G	T	83215935	3	4	50	1	0	0	0	0	1	0	0	0	3809	1078	38	3	245	3	CPEB1	15	83215935	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	42533850	83215935	19315457	120	6199											
TM6SF1	53346	broad.mit.edu	37	chr15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-													ccctgaagaagcaaaaatccTttttttagcattaaacatag							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1000-1002)ctfs		transmembrane 6 superfamily member 1							115	114	114					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	53346					integral to membrane		g.chr15:83805312delT	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs					TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs	p.L334fs			Q9BZW5	TM6S1_HUMAN			10	1275	+			334					A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	ENST00000322019.9	37	c.1001delT	CCDS10323.1																																																																																				0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		7	625						7	625	---	---	---	---	-	83805312	T	-	83805312	7	5	50	1	0	1	0	1	0	0	0	0	16024	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Del	DEL	T	TCGA-FB-AAPU-01A-31D-A40W-08	589377	83805312	18726080	121	6200											
C16orf79	283870	broad.mit.edu	37	chr16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-													acccccacagcggccagcacCagcagcagcagcagcaggag					rs371145262		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.66	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		8	138						8	138	---	---	---	---	-	2260588	CAG	-	2260586	7	5	50	1	0	1	0	1	0	0	0	0	1841	581	21	0	589	0	C16orf79	16	2260586	In_Frame_Del	DEL	CAG	TCGA-FB-AAPU-01A-31D-A40W-08		2260586	88094167	122	6201											
CDH8	1006	broad.mit.edu	37	chr16	62055298	62055298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcatttccgctagccGttctggcatggtcccaccag	10	14	1	1	rs139797882		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:62055298G>A	ENST00000577390.1	-	2	964	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	4					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(10-12)Cgg>Tgg		cadherin 8, type 2							63	66	65					16																	62055298		2201	4295	6496	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055298G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.10C>T	16.37:g.62055298G>A	ENSP00000462701:p.Arg4Trp					CDH8_ENST00000584337.1_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000299345.6_Missense_Mutation_p.R4W	p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	964	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	4					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.10C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920100	0.73098	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.17	5.2	0.72013	.	0.068663	0.64402	D	0.000020	T	0.69360	0.3102	L	0.47716	1.5	0.39308	D	0.965029	D	0.89917	1.0	D	0.77557	0.99	T	0.73792	-0.3871	10	0.87932	D	0	.	13.5257	0.61593	0.0:0.0:0.5605:0.4395	.	4	P55286	CADH8_HUMAN	W	4	ENSP00000299345:R4W	ENSP00000299345:R4W	R	-	1	2	CDH8	60612799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.564000	0.49628	0.655000	0.94253	CGG		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		35	286	0	0	0	1	0	35	286					A	62055298	G	A	62055298	3	1	50	1	0	0	0	0	1	0	0	0	3125	1144	40	1	2433	1	CDH8	16	62055298	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	59794712	62055298	28299455	123	6202											
EXOC3L	283849	broad.mit.edu	37	chr16	67221162	67221162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcccagtgcagcaaggCgaaggcatccgcagcttcta	12	13	1	0	rs571286410		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:67221162C>T	ENST00000314586.6	-	5	1246	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	336	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.A336T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCAGCAAGGCGAAGGCATCC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		20533	0.0		0.0	False		,,,				2504	0.001					ENST00000314586.6																			2	Substitution - Missense(2)	p.A336T(2)	large_intestine(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1006-1008)Gcc>Acc		exocyst complex component 3-like 1							41	37	38					16																	67221162		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221162C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1006G>A	16.37:g.67221162C>T	ENSP00000325674:p.Ala336Thr					EXOC3L1_ENST00000562887.1_Intron	p.A336T	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	1246	-			336			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1006G>A	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	c	0.738	-0.777374	0.02929	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.18338	3.09;2.22	5.44	-0.326	0.12698	.	0.688796	0.14773	N	0.299287	T	0.04588	0.0125	N	0.02539	-0.55	0.25226	N	0.989867	B;B;B	0.16802	0.002;0.019;0.002	B;B;B	0.11329	0.001;0.006;0.002	T	0.37979	-0.9682	10	0.17369	T	0.5	-2.9961	2.2378	0.04012	0.1226:0.3296:0.1229:0.4249	.	275;275;336	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	T	336;275;280	ENSP00000325674:A336T;ENSP00000439910:A275T	ENSP00000325008:A280T	A	-	1	0	EXOC3L1	65778663	0.013000	0.17824	0.967000	0.41034	0.168000	0.22595	-0.502000	0.06390	-0.269000	0.09298	-1.467000	0.01014	GCC		0.632	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		55	101	0	0	0	1	0	55	101					T	67221162	C	T	67221162	3	4	50	1	0	0	0	0	1	0	0	0	5322	768	27	1	1274	1	EXOC3L	16	67221162	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	5165864	67221162	23133591	124	6203											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		13	297						13	297	---	---	---	---	-	16335492	TGC	-	16335490	7	5	50	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-FB-AAPU-01A-31D-A40W-08		16335490	64859720	125	6204											
MEOX1	4222	broad.mit.edu	37	chr17	41738449	41738449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgaactctcctttcTccgcctggatgatttcttct	5	15	4	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:41738449T>C	ENST00000318579.4	-	1	873	c.454A>G	c.(454-456)Aga>Gga	p.R152G	MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	152					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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 positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCTCCTTTCTCCGCCTGGAT	0.572																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(454-456)Aga>Gga		mesenchyme homeobox 1							197	196	196					17																	41738449		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738449T>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.454A>G	17.37:g.41738449T>C	ENSP00000321684:p.Arg152Gly					MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000549132.1_Silent_p.G122G	p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	873	-		Breast(137;0.00908)	152					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.454A>G	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857712	0.51376	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.91180	-2.8;0.64;-2.78	4.99	4.99	0.66335	.	0.048523	0.85682	D	0.000000	T	0.82135	0.4971	N	0.14661	0.345	0.37695	D	0.923982	B;B	0.29835	0.152;0.258	B;B	0.26969	0.023;0.075	T	0.83253	-0.0052	10	0.48119	T	0.1	-25.6858	13.4121	0.60948	0.0:0.0:0.0:1.0	.	152;152	Q15069;P50221	.;MEOX1_HUMAN	G	152;152;37	ENSP00000321684:R152G;ENSP00000328678:R152G;ENSP00000377271:R37G	ENSP00000321684:R152G	R	-	1	2	MEOX1	39093975	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.734000	0.74801	2.092000	0.63282	0.533000	0.62120	AGA		0.572	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			19	786	0	0	0	1	0	19	786					C	41738449	T	C	41738449	3	2	50	1	0	0	0	0	1	0	0	0	9514	1559	54	4	322	4	MEOX1	17	41738449	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	25402959	41738449	39456761	126	6205											
B4GALNT2	124872	broad.mit.edu	37	chr17	47230177	47230177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagaagggctgccccgCccactgcccctgctggtcca	12	17	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:47230177C>T	ENST00000300404.2	+	4	608	c.549C>T	c.(547-549)cgC>cgT	p.R183R	B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	183					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGCTGCCCCGCCCACTGCCCC	0.617																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(547-549)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 2							39	29	32					17																	47230177		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47230177C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.549C>T	17.37:g.47230177C>T						B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	p.R183R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		4	608	+			183					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.549C>T	CCDS11544.1																																																																																				0.617	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		13	26	0	0	0	1	0	13	26					T	47230177	C	T	47230177	2	4	50	1	0	0	0	0	0	0	0	1	1268	726	26	2		2	B4GALNT2	17	47230177	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	5491728	47230177	33965033	127	6206											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		9	392						9	392	---	---	---	---	-	62291440	TCC	-	62291438	7	5	50	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-FB-AAPU-01A-31D-A40W-08	15061261	62291438	18903772	128	6207											
HELZ	9931	broad.mit.edu	37	chr17	65163782	65163782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccagtcgtccagccaaagTatcttcagaaagtgtttcag	8	11	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:65163782T>A	ENST00000358691.5	-	14	1727	c.1561A>T	c.(1561-1563)Act>Tct	p.T521S	HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	521						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)			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)					CCAGCCAAAGTATCTTCAGAA	0.433																																						ENST00000358691.5																			0				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						c.(1561-1563)Act>Tct		helicase with zinc finger							115	102	106					17																	65163782		1866	4114	5980	SO:0001583	missense	9931							g.chr17:65163782T>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.1561A>T	17.37:g.65163782T>A	ENSP00000351524:p.Thr521Ser					HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	p.T521S	NM_014877.3	NP_055692.2					14	1727	-	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.1561A>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885504	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.85484	-1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.56280	1.765	0.80722	D	1	D;P	0.76494	0.999;0.922	D;P	0.68192	0.956;0.655	D	0.90316	0.4341	10	0.52906	T	0.07	-16.6549	15.4547	0.75302	0.0:0.0:0.0:1.0	.	521;521	B7ZLW2;P42694	.;HELZ_HUMAN	S	521	ENSP00000351524:T521S	ENSP00000351524:T521S	T	-	1	0	HELZ	62594244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.662000	0.68032	2.045000	0.60652	0.460000	0.39030	ACT		0.433	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		11	378	0	0	0	1	0	11	378					A	65163782	T	A	65163782	3	1	50	1	0	0	0	0	1	0	0	0	7079	1638	57	5	4347	5	HELZ	17	65163782	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	2872344	65163782	16031428	129	6208											
WIPI1	55062	broad.mit.edu	37	chr17	66430712	66430712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaccttttcatccctctcCggaactcatagagcttttgc	6	14	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430712C>A	ENST00000262139.5	-	7	676	c.677G>T	c.(676-678)cGg>cTg	p.R226L	WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	226					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CATCCCTCTCCGGAACTCATA	0.512																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(676-678)cGg>cTg		WD repeat domain, phosphoinositide interacting 1							95	92	93					17																	66430712		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430712C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.677G>T	17.37:g.66430712C>A	ENSP00000262139:p.Arg226Leu					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L	p.R226L	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			7	676	-			226					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.677G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322237	0.81580	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.52057	0.68;2.32	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116368	0.56097	D	0.000025	T	0.65565	0.2703	H	0.95043	3.615	0.80722	D	1	P	0.35328	0.495	B	0.35931	0.214	T	0.75673	-0.3236	10	0.72032	D	0.01	-15.4145	19.0599	0.93085	0.0:1.0:0.0:0.0	.	226	Q5MNZ9	WIPI1_HUMAN	L	226;144	ENSP00000262139:R226L;ENSP00000437345:R144L	ENSP00000262139:R226L	R	-	2	0	WIPI1	63942307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	CGG		0.512	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		57	181	1	0	7.41606e-26	1	8.2481e-26	57	181					A	66430712	C	A	66430712	3	1	50	1	0	0	0	0	1	0	0	0	17424	652	23	3	691	3	WIPI1	17	66430712	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1266930	66430712	14764498	130	6209											
WIPI1	55062	broad.mit.edu	37	chr17	66430734	66430734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactcatagagcttttgccCatcagggacagagaacaccc	9	12	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430734C>A	ENST00000262139.5	-	7	654	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGCTTTTGCCCATCAGGGACA	0.498																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(655-657)Ggg>Tgg		WD repeat domain, phosphoinositide interacting 1							90	87	88					17																	66430734		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430734C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.655G>T	17.37:g.66430734C>A	ENSP00000262139:p.Gly219Trp					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W	p.G219W	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			7	654	-			219					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.655G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559525	0.86335	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.39;2.03	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.105797	0.64402	D	0.000004	T	0.80788	0.4690	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85997	0.1492	10	0.87932	D	0	-22.2488	19.0599	0.93085	0.0:1.0:0.0:0.0	.	219	Q5MNZ9	WIPI1_HUMAN	W	219;137	ENSP00000262139:G219W;ENSP00000437345:G137W	ENSP00000262139:G219W	G	-	1	0	WIPI1	63942329	1.000000	0.71417	0.936000	0.37596	0.891000	0.51852	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	GGG		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		51	173	1	0	9.72345e-25	1	1.07619e-24	51	173					A	66430734	C	A	66430734	3	1	50	1	0	0	0	0	1	0	0	0	17424	594	21	3	713	3	WIPI1	17	66430734	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	22	66430734	14764476	131	6210											
KIAA0195	9772	broad.mit.edu	37	chr17	73488859	73488859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcctctgcgagcttgCccgcctcattggtacaggtc	13	14	2	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:73488859C>T	ENST00000314256.7	+	15	2295	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	634						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGAGCTTGCCCGCCTCATT	0.647																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1900-1902)gCc>gTc		KIAA0195							53	53	53					17																	73488859		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73488859C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1901C>T	17.37:g.73488859C>T	ENSP00000313885:p.Ala634Val					KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V	p.A634V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2295	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		634					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1901C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088956	0.55968	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87650	-2.28;-2.28	5.77	5.77	0.91146	.	0.053643	0.85682	D	0.000000	D	0.86251	0.5888	L	0.54323	1.7	0.80722	D	1	B;B;B	0.34329	0.079;0.449;0.321	B;B;B	0.33960	0.043;0.173;0.084	D	0.85706	0.1316	10	0.62326	D	0.03	-29.8003	19.9787	0.97318	0.0:1.0:0.0:0.0	.	644;644;634	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	634;644	ENSP00000313885:A634V;ENSP00000364397:A644V	ENSP00000313885:A634V	A	+	2	0	KIAA0195	71000454	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.785000	0.68998	2.733000	0.93635	0.561000	0.74099	GCC		0.647	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		5	427	0	0	0	1	0	5	427					T	73488859	C	T	73488859	3	4	50	1	0	0	0	0	1	0	0	0	8190	739	26	2	1955	2	KIAA0195	17	73488859	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7058125	73488859	7706351	132	6211											
TNRC6C	57690	broad.mit.edu	37	chr17	76047129	76047153	+	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-													ggggagactttaaaacctggCccccaacagaactgggctag					rs114241857|rs373111046	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENST00000588061.1	+	5	2713_2737	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	c.(1984-2010)ggcccccaacagaactgggctagcaaafs	p.GPQQNWASK662fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	662	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA	0.538																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1984-2010)ggfs		trinucleotide repeat containing 6C																																				SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	17.37:g.76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENSP00000468647:p.Gly662fs					TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs	p.GPQQNWASK662fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2555_2579	+			662			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	CCDS45798.1																																																																																				0.538	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	87						9	87	---	---	---	---	-	76047153	CCCCCAACAGAACTGGGCTAGCAAA	-	76047129	7	5	50	1	0	1	0	1	0	0	0	0	16394	726	26	0	1988	0	TNRC6C	17	76047129	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	TCGA-FB-AAPU-01A-31D-A40W-08	2558270	76047129	5148081	133	6212											
RNF125	54941	broad.mit.edu	37	chr18	29622203	29622203	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagtacatagataagtatgGaccactacaagaacttgagg	10	6	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:29622203G>C	ENST00000217740.3	+	3	872	c.380G>C	c.(379-381)gGa>gCa	p.G127A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	127					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATAAGTATGGACCACTACAA	0.328																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(379-381)gGa>gCa		ring finger protein 125, E3 ubiquitin protein ligase							81	78	79					18																	29622203		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29622203G>C	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.380G>C	18.37:g.29622203G>C	ENSP00000217740:p.Gly127Ala					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.G127A	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			3	872	+			127					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.380G>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686264	0.47991	.	.	ENSG00000101695	ENST00000217740	D	0.82255	-1.59	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000024	D	0.88040	0.6330	L	0.54323	1.7	0.50813	D	0.999893	D	0.76494	0.999	D	0.83275	0.996	T	0.83353	-0.0002	10	0.13853	T	0.58	0.442	16.7717	0.85539	0.0:0.0:1.0:0.0	.	127	Q96EQ8	RN125_HUMAN	A	127	ENSP00000217740:G127A	ENSP00000217740:G127A	G	+	2	0	RNF125	27876201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.059000	0.64306	2.767000	0.95098	0.563000	0.77884	GGA		0.328	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		4	88	0	0	0	1	0	4	88					C	29622203	G	C	29622203	3	2	50	1	0	0	0	0	1	0	0	0	13484	1174	41	5	390	5	RNF125	18	29622203	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		29622203	48455045	134	6213											
C19orf21	126353	broad.mit.edu	37	chr19	757669	757669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagccccacctggccaaCgggcacgtggttcccatcaa	9	16	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:757669C>T	ENST00000215582.6	+	2	826	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	241					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACCTGGCCAACGGGCACGTGG	0.672																																						ENST00000215582.6																			0											c.(721-723)aaC>aaT		mitotic spindle positioning							24	27	26					19																	757669		2203	4300	6503	SO:0001819	synonymous_variant	126353							g.chr19:757669C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.723C>T	19.37:g.757669C>T							p.N241N	NM_173481.2	NP_775752.1					2	826	+									Silent	SNP	ENST00000215582.6	37	c.723C>T	CCDS12042.1																																																																																				0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		25	68	0	0	0	1	0	25	68					T	757669	C	T	757669	2	4	50	1	0	0	0	0	0	0	0	1	1920	535	19	1		1	C19orf21	19	757669	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		757669	58371314	135	6214											
FAM108A1	81926	broad.mit.edu	37	chr19	1881263	1881263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgcagcgaacatacatGcaggagacgcggttgccgcg	15	12	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																						ENST00000292577.7																			3	Substitution - coding silent(3)	p.C101C(3)	lung(2)|endometrium(1)								c.(301-303)tgC>tgT		abhydrolase domain containing 17A							35	39	38					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926							g.chr19:1881263G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A						ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	p.C101C	NM_001130111.1	NP_001123583.1					2	736	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.303C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		5	192	0	0	0	1	0	5	192					A	1881263	G	A	1881263	2	1	50	1	0	0	0	0	0	0	0	1	5412	1311	46	2		2	FAM108A1	19	1881263	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1123594	1881263	57247720	136	6215											
HDGFRP2	729359	broad.mit.edu	37	chr19	4501203	4501203	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccctctgtcccacccagAtctctcagccccagtgaatg	7	18	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:4501203A>G	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_Splice_Site_p.D602G|HDGFRP2_ENST00000301284.4_Splice_Site_p.D602G	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCACCCAGATCTCTCAGCC	0.657																																						ENST00000301284.4																			0											c.e15-1									42	50	47					19																	4501203		2033	4175	6208	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501203A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501203A>G						HDGFRP2_ENST00000586684.1_Splice_Site_p.D602_splice	p.D602_splice	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			15	1869	+			597					A6NEI2	Splice_Site	SNP	ENST00000301286.3	37	c.1804_splice	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	A	7.470	0.646384	0.14451	.	.	ENSG00000167674	ENST00000301284	T	0.47177	0.85	3.96	2.94	0.34122	.	0.486110	0.18610	N	0.136185	T	0.31136	0.0787	L	0.29908	0.895	0.32476	N	0.542179	B;B	0.15930	0.015;0.003	B;B	0.14578	0.011;0.002	T	0.29640	-1.0005	9	.	.	.	.	7.3182	0.26513	0.8911:0.0:0.1089:0.0	.	597;602	Q7Z4V5-2;C9JEE1	.;.	G	602	ENSP00000301284:D602G	.	D	+	2	0	AC011498.1	4452203	0.914000	0.31030	0.036000	0.18154	0.053000	0.15095	2.902000	0.48703	0.585000	0.29608	0.379000	0.24179	GAT		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		55	121	0	0	0	1	0	55	121					G	4501203	A	G	4501203	1	3	50	0	1	0	0	0	0	0	0	0	7050	347	12	4		4	HDGFRP2	19	4501203	IGR	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	2619940	4501203	54627780	137	6216											
CARM1	10498	broad.mit.edu	37	chr19	11022882	11022882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcttgatgttggctgtgGctctgggatcctgtcgtttt	13	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:11022882G>A	ENST00000327064.4	+	5	771	c.581G>A	c.(580-582)gGc>gAc	p.G194D	CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	194	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTGGCTGTGGCTCTGGGATC	0.592																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(580-582)gGc>gAc		coactivator-associated arginine methyltransferase 1							351	279	303					19																	11022882		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022882G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.581G>A	19.37:g.11022882G>A	ENSP00000325690:p.Gly194Asp					CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	771	+			194					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.581G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987583	0.93106	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.77620	-1.11;-1.11	5.67	4.64	0.57946	.	0.058076	0.64402	N	0.000002	D	0.93354	0.7881	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95477	0.8557	10	0.87932	D	0	-4.2354	13.3148	0.60401	0.077:0.0:0.923:0.0	.	194	Q86X55	CARM1_HUMAN	D	194	ENSP00000325690:G194D;ENSP00000340934:G194D	ENSP00000325690:G194D	G	+	2	0	CARM1	10883882	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.233000	0.95337	1.403000	0.46800	0.655000	0.94253	GGC		0.592	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		29	1221	0	0	0	1	0	29	1221					A	11022882	G	A	11022882	3	1	50	1	0	0	0	0	1	0	0	0	2662	1203	42	2	599	2	CARM1	19	11022882	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6521679	11022882	48106101	138	6217											
AKAP8	10270	broad.mit.edu	37	chr19	15483674	15483674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttacccgatcccgatcCcgcatccgaggctgcgagcg	13	16	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:15483674C>T	ENST00000269701.2	-	5	909	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	283					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GATCCCGATCCCGCATCCGAG	0.592																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(847-849)cgG>cgA		A kinase (PRKA) anchor protein 8							23	25	25					19																	15483674		2203	4299	6502	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483674C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.849G>A	19.37:g.15483674C>T							p.R283R	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	909	-			283						Silent	SNP	ENST00000269701.2	37	c.849G>A	CCDS12329.1																																																																																				0.592	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		27	91	0	0	0	1	0	27	91					T	15483674	C	T	15483674	2	4	50	1	0	0	0	0	0	0	0	1	457	610	22	2		2	AKAP8	19	15483674	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	4460792	15483674	43645309	139	6218											
UPK1A	11045	broad.mit.edu	37	chr19	36168781	36168781	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatctcgtggtttgggtttgCcatcctgatgtggacggtga	14	7	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:36168781C>G	ENST00000222275.2	+	6	716	c.716C>G	c.(715-717)gCc>gGc	p.A239G	UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	239					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTGGGTTTGCCATCCTGATG	0.657																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(715-717)gCc>gGc		uroplakin 1A							77	63	67					19																	36168781		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36168781C>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.716C>G	19.37:g.36168781C>G	ENSP00000222275:p.Ala239Gly					UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	p.A239G	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	716	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		239					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.716C>G	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.625613|3.625613	0.66901|0.66901	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.77750|0.07216	-1.12|3.21	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|.	.|.	.|.	.|.	T|T	0.09423|0.09423	0.0232|0.0232	L|L	0.48642|0.48642	1.525|1.525	0.39783|0.39783	D|D	0.97232|0.97232	P|P	0.35328|0.37330	0.495|0.59	B|B	0.39339|0.30572	0.297|0.117	T|T	0.04607|0.04607	-1.0939|-1.0939	9|9	0.06236|0.87932	T|D	0.91|0	-5.748|-5.748	15.1232|15.1232	0.72460|0.72460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	239|272	O00322|O00322-2	UPK1A_HUMAN|.	G|A	239|272	ENSP00000222275:A239G|ENSP00000368298:P272A	ENSP00000222275:A239G|ENSP00000368298:P272A	A|P	+|+	2|1	0|0	UPK1A|UPK1A	40860621|40860621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.013000|5.013000	0.64023|0.64023	2.643000|2.643000	0.89663|0.89663	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.657	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			5	103	0	0	0	1	0	5	103					G	36168781	C	G	36168781	3	3	50	1	0	0	0	0	1	0	0	0	17061	739	26	5	738	5	UPK1A	19	36168781	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	20685107	36168781	22960202	140	6219											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590667	38590667	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaagcatgggaccggGcggggcctgcccttgaagga	16	13	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:38590667G>T	ENST00000222345.6	+	5	2240	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	577					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGGGACCGGGCGGGGCCTGC	0.632																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1729-1731)ggG>ggT		signal-induced proliferation-associated 1 like 3							67	62	63					19																	38590667		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590667G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1731G>T	19.37:g.38590667G>T							p.G577G	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2240	+			577					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1731G>T	CCDS33007.1																																																																																				0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		86	176	1	0	2.40943e-26	1	2.69289e-26	86	176					T	38590667	G	T	38590667	2	4	50	1	0	0	0	0	0	0	0	1	14381	1190	42	3		3	SIPA1L3	19	38590667	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2421886	38590667	20538316	141	6220											
MYH14	79784	broad.mit.edu	37	chr19	50753776	50753777	+	Frame_Shift_Ins	INS	-	-	C													gctgtcaatggccaggccaaINScccccctggactcctggccc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:50753776_50753777insC	ENST00000596571.1	+	13	1637_1638	c.1637_1638insC	c.(1636-1641)aaccccfs	p.NP546fs	MYH14_ENST00000440075.2_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000376970.2_Frame_Shift_Ins_p.NP546fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.NP554fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	546	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCAGGCCAACCCCCCTGGAC	0.574																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1660-1662)accfs		myosin, heavy chain 14, non-muscle																																				SO:0001589	frameshift_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50753776_50753777insC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1643dupC	19.37:g.50753782_50753782dupC	ENSP00000472819:p.Asn546fs					MYH14_ENST00000376970.2_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000596571.1_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.T554fs	p.T554fs			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	15	1708_1709	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	546			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Ins	INS	ENST00000596571.1	37	c.1661_1662insC	CCDS59411.1																																																																																				0.574	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		21	68						21	68	---	---	---	---	C	50753777	-	C	50753776	7	5	50	1	0	1	1	0	0	0	0	0	10074	43	2	0	1715	0	MYH14	19	50753776	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	12163109	50753776	8375207	142	6221											
ZNF600	162966	broad.mit.edu	37	chr19	53270312	53270312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtctacgatggcatgtaaGggatgatacctgactgaagg	13	6	1	3	rs566513144		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53270312G>T	ENST00000338230.3	-	3	964	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGCATGTAAGGGATGATACC	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(697-699)Ctt>Att		zinc finger protein 600																																				SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270312G>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.697C>A	19.37:g.53270312G>T	ENSP00000344791:p.Leu233Ile						p.L233I	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	964	-			233					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.697C>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.250086	0.59212	.	.	ENSG00000189190	ENST00000338230	T	0.10860	2.83	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37019	0.0988	M	0.89715	3.055	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.08066	-1.0740	9	0.87932	D	0	.	10.1661	0.42882	0.0:0.0:1.0:0.0	.	233	Q6ZNG1	ZN600_HUMAN	I	233	ENSP00000344791:L233I	ENSP00000344791:L233I	L	-	1	0	ZNF600	57962124	0.152000	0.22762	0.093000	0.20910	0.519000	0.34347	2.239000	0.43079	0.888000	0.36160	0.313000	0.20887	CTT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		36	523	1	0	1.07637e-12	1	1.15217e-12	36	523					T	53270312	G	T	53270312	3	4	50	1	0	0	0	0	1	0	0	0	18083	1000	35	3	1475	3	ZNF600	19	53270312	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2516536	53270312	5858671	143	6222											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					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.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	308	0	0	0	1	0	6	308					A	53855284	G	A	53855284	2	1	50	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	584972	53855284	5273699	144	6223											
CASS4	57091	broad.mit.edu	37	chr20	55033569	55033569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcactcagagcaagctggtCatcatggtgggacagaagct	12	9	4	2	rs372142142		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:55033569C>T	ENST00000360314.3	+	7	2352	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	CASS4_ENST00000434344.1_Silent_p.V272V|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.V709V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	709					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(2125-2127)gtC>gtT		Cas scaffolding protein family member 4		C	,,,	1,4405	2.1+/-5.4	0,1,2202	92	78	83		1965,816,2127,2127	4	0.9	20		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	655/733,272/350,709/787,709/787	55033569	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033569C>T	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.2127C>T	20.37:g.55033569C>T						CASS4_ENST00000360314.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V	p.V709V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			6	2328	+			709					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.2127C>T	CCDS33492.1																																																																																				0.617	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		78	151	0	0	0	1	0	78	151					T	55033569	C	T	55033569	2	4	50	1	0	0	0	0	0	0	0	1	2690	813	29	2		2	CASS4	20	55033569	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		55033569	7991951	145	6224											
CDH4	1002	broad.mit.edu	37	chr20	60511862	60511862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggtcttcgactacgAggggagcggctccaccgcag	14	14	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60511862A>G	ENST00000360469.5	+	16	2700	c.2612A>G	c.(2611-2613)gAg>gGg	p.E871G	CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	871					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCGACTACGAGGGGAGCGGC	0.627																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2611-2613)gAg>gGg		cadherin 4, type 1, R-cadherin (retinal)							48	46	47					20																	60511862		2203	4299	6502	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511862A>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2612A>G	20.37:g.60511862A>G	ENSP00000353656:p.Glu871Gly					CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	p.E871G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2700	+			871					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2612A>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433272	0.83776	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.87966	-2.32;-2.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95944	0.8949	9	.	.	.	.	13.8037	0.63218	1.0:0.0:0.0:0.0	.	871	P55283	CADH4_HUMAN	G	871;779;797	ENSP00000353656:E871G;ENSP00000443301:E797G	.	E	+	2	0	CDH4	59945257	1.000000	0.71417	0.695000	0.30226	0.635000	0.38103	9.016000	0.93645	1.681000	0.50988	0.383000	0.25322	GAG		0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		24	157	0	0	0	1	0	24	157					G	60511862	A	G	60511862	3	3	50	1	0	0	0	0	1	0	0	0	3121	304	11	4	2674	4	CDH4	20	60511862	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	5478293	60511862	2513658	146	6225											
LSM14B	149986	broad.mit.edu	37	chr20	60701454	60701454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggcccgctggcggccaGctccctgctcagccagcagt	12	18	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60701454G>A	ENST00000279068.6	+	3	546	c.386G>A	c.(385-387)aGc>aAc	p.S129N	LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N|LSM14B_ENST00000253001.4_Missense_Mutation_p.S129N	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	129					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTGGCGGCCAGCTCCCTGCTC	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(385-387)aGc>aAc		LSM14B, SCD6 homolog B (S. cerevisiae)							35	39	38					20																	60701454		2028	4169	6197	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701454G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.386G>A	20.37:g.60701454G>A	ENSP00000279068:p.Ser129Asn					LSM14B_ENST00000279068.6_Missense_Mutation_p.S129N|LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N	p.S129N			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	592	+	Breast(26;3.97e-09)		129					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.386G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724866	0.68959	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.55588	0.88;0.87;0.9;0.51	5.42	5.42	0.78866	.	0.162938	0.64402	D	0.000002	T	0.56001	0.1956	M	0.75264	2.295	0.40246	D	0.978013	B;P;P;P;B	0.44429	0.134;0.647;0.799;0.835;0.047	B;B;B;B;B	0.41666	0.037;0.146;0.156;0.363;0.031	T	0.63056	-0.6722	10	0.49607	T	0.09	.	14.7797	0.69756	0.0:0.144:0.856:0.0	.	10;10;129;155;129	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	N	129;129;129;10;155;129;10;10	ENSP00000279068:S129N;ENSP00000253001:S129N;ENSP00000383172:S155N;ENSP00000355209:S10N	ENSP00000253001:S129N	S	+	2	0	LSM14B	60134849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.529000	0.85273	0.511000	0.50034	AGC		0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		43	77	0	0	0	1	0	43	77					A	60701454	G	A	60701454	3	1	50	1	0	0	0	0	1	0	0	0	9093	971	34	2	396	2	LSM14B	20	60701454	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	189592	60701454	2324066	147	6226											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214913	28214913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgctttagaccactgccGtggaattctgccatcgactg	9	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:28214913G>A	ENST00000284984.3	-	2	1276	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(820-822)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							80	71	74					21																	28214913		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214913G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.822C>T	21.37:g.28214913G>A							p.H274H	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	2	1276	-		Breast(209;0.000962)	274			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.822C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	9.460	1.092734	0.20471	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.44	-1.59	0.08453	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56481	-0.7972	4	.	.	.	.	12.2727	0.54716	0.6587:0.0:0.3413:0.0	.	.	.	.	M	56	.	.	T	-	2	0	ADAMTS1	27136784	0.097000	0.21791	0.993000	0.49108	0.987000	0.75469	-0.483000	0.06536	-0.211000	0.10124	-0.768000	0.03414	ACG		0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			9	322	0	0	0	1	0	9	322					A	28214913	G	A	28214913	2	1	50	1	0	0	0	0	0	0	0	1	255	1136	40	1		1	ADAMTS1	21	28214913	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		28214913	19914982	148	6227											
TMPRSS3	64699	broad.mit.edu	37	chr21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcaaggccaaaaagcgatCggaatgagaagggggcttca	13	8	2	1	rs369418733		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAAGCGATCGGAATGAGAA	0.517																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(46-48)cGa>cAa		transmembrane protease, serine 3		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	117	102	107		47,47	4.5	1	21		107	0,8600		0,0,4300	no	missense,missense	TMPRSS3	NM_024022.2,NM_032405.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	16/455,16/345	43815480	1,13005	2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43815480C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.47G>A	21.37:g.43815480C>T	ENSP00000291532:p.Arg16Gln					TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q	p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			2	1002	-			16					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.47G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916630	0.73098	2.27E-4	0.0	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88354	-2.33;-2.33;-2.33;-2.37;-2.33	5.39	4.5	0.54988	.	0.132141	0.36628	N	0.002499	T	0.80276	0.4593	N	0.19112	0.55	0.28577	N	0.910325	D;P;P	0.57899	0.981;0.948;0.913	B;B;B	0.43916	0.436;0.237;0.12	T	0.74551	-0.3628	9	.	.	.	.	9.3585	0.38182	0.0:0.904:0.0:0.096	.	16;16;16	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Q	16;16;16;100;16	ENSP00000291532:R16Q;ENSP00000411013:R16Q;ENSP00000381442:R16Q;ENSP00000369762:R100Q;ENSP00000381434:R16Q	.	R	-	2	0	TMPRSS3	42688549	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	1.712000	0.37940	2.691000	0.91804	0.655000	0.94253	CGA		0.517	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			46	91	0	0	0	1	0	46	91					T	43815480	C	T	43815480	3	4	50	1	0	0	0	0	1	0	0	0	16300	884	31	1	1448	1	TMPRSS3	21	43815480	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	15600567	43815480	4314415	149	6228											
TRMT2A	27037	broad.mit.edu	37	chr22	20103778	20103778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggcaccatgcaaaaCgcgcagggccttgtccctct	11	15	1	1	rs200653246		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:20103778C>T	ENST00000252136.7	-	2	770	c.382G>A	c.(382-384)Gtt>Att	p.V128I	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	128	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCATGCAAAACGCGCAGGGCC	0.647																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(382-384)Gtt>Att		tRNA methyltransferase 2 homolog A (S. cerevisiae)							47	48	47					22																	20103778		2203	4299	6502	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103778C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.382G>A	22.37:g.20103778C>T	ENSP00000252136:p.Val128Ile					RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I	p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	770	-			128			RRM.		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.382G>A	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.960083|2.960083	0.53400|0.53400	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	.|T;T;T;T;T	.|0.41758	.|3.17;3.17;3.17;3.17;0.99	5.68|5.68	4.67|4.67	0.58626|0.58626	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.189905	.|0.47093	.|D	.|0.000254	T|T	0.33962|0.33962	0.0881|0.0881	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.50369	.|0.934;0.003;0.0	.|B;B;B	.|0.43478	.|0.421;0.005;0.003	T|T	0.05402|0.05402	-1.0887|-1.0887	6|10	0.54805|0.27785	T|T	0.06|0.31	-28.7311|-28.7311	14.5387|14.5387	0.67979|0.67979	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|128;128;128	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	M|I	24|128;128;128;128;116	.|ENSP00000252136:V128I;ENSP00000385807:V128I;ENSP00000384968:V128I;ENSP00000395738:V128I;ENSP00000393911:V116I	ENSP00000404724:T24M|ENSP00000252136:V128I	T|V	+|-	2|1	0|0	RANBP1|TRMT2A	18483778|18483778	0.851000|0.851000	0.29673|0.29673	0.928000|0.928000	0.36995|0.36995	0.657000|0.657000	0.38888|0.38888	2.040000|2.040000	0.41203|0.41203	1.422000|1.422000	0.47177|0.47177	-0.424000|-0.424000	0.05967|0.05967	ACG|GTT		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		62	151	0	0	0	1	0	62	151					T	20103778	C	T	20103778	3	4	50	1	0	0	0	0	1	0	0	0	16618	536	19	1	1539	1	TRMT2A	22	20103778	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		20103778	31200788	150	6229											
TOP3B	8940	broad.mit.edu	37	chr22	22316871	22316871	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgggtgggttcgtctgcttCtccagcatcttcacctcgcc	10	15	4	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22316871C>T	ENST00000398793.2	-	13	1889	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	485					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCGTCTGCTTCTCCAGCATCT	0.662																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1453-1455)gaG>gaA		topoisomerase (DNA) III beta							85	72	77					22																	22316871		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316871C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1455G>A	22.37:g.22316871C>T						TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	p.E485E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1889	-	Colorectal(54;0.105)		485					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.1455G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946274	0.18356	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.12	4.1	0.47936	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.1485	0.31126	0.0:0.7409:0.0:0.2591	.	.	.	.	K	280	.	.	R	-	2	0	TOP3B	20646871	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.352000	0.52239	1.141000	0.42275	0.563000	0.77884	AGA		0.662	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		13	211	0	0	0	1	0	13	211					T	22316871	C	T	22316871	2	4	50	1	0	0	0	0	0	0	0	1	16421	912	32	2		2	TOP3B	22	22316871	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2213093	22316871	28987695	151	6230											
SUSD2	56241	broad.mit.edu	37	chr22	24579030	24579030	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcctctcctccagatgccCaagagagctgctccatgcgc	8	17	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579030C>G	ENST00000358321.3	+	2	343	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	28	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGATGCCCAAGAGAGCTG	0.642																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(82-84)Caa>Gaa		sushi domain containing 2							55	65	62					22																	24579030		2202	4300	6502	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579030C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.82C>G	22.37:g.24579030C>G	ENSP00000351075:p.Gln28Glu						p.Q28E	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	343	+			28			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.82C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156549	0.21454	.	.	ENSG00000099994	ENST00000358321	T	0.42131	0.98	3.49	3.49	0.39957	Somatomedin B domain (3);	0.591391	0.14759	N	0.300115	T	0.35856	0.0946	L	0.54323	1.7	0.09310	N	1	B	0.33000	0.393	B	0.33846	0.171	T	0.21965	-1.0230	10	0.41790	T	0.15	-6.7537	7.0078	0.24846	0.0:0.8753:0.0:0.1247	.	28	Q9UGT4	SUSD2_HUMAN	E	28	ENSP00000351075:Q28E	ENSP00000351075:Q28E	Q	+	1	0	SUSD2	22909030	0.000000	0.05858	0.687000	0.30102	0.787000	0.44495	-0.114000	0.10757	2.007000	0.58848	0.449000	0.29647	CAA		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		16	343	0	0	0	1	0	16	343					G	24579030	C	G	24579030	3	3	50	1	0	0	0	0	1	0	0	0	15460	595	21	5	88	5	SUSD2	22	24579030	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2262159	24579030	26725536	152	6231											
SUSD2	56241	broad.mit.edu	37	chr22	24579094	24579094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcctgccacccgacgtgctCtggccttggcacctgctgct	10	17	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579094C>G	ENST00000358321.3	+	2	407	c.146C>G	c.(145-147)tCt>tGt	p.S49C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	49	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCGACGTGCTCTGGCCTTGGC	0.632																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(145-147)tCt>tGt		sushi domain containing 2							135	147	143					22																	24579094		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579094C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.146C>G	22.37:g.24579094C>G	ENSP00000351075:p.Ser49Cys						p.S49C	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	407	+			49			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.146C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.214	0.596096	0.13875	.	.	ENSG00000099994	ENST00000358321	T	0.44482	0.92	3.76	1.58	0.23477	Somatomedin B domain (4);	1.140860	0.06462	N	0.729556	T	0.38931	0.1059	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	P	0.44732	0.459	T	0.30679	-0.9970	10	0.51188	T	0.08	-8.1814	3.3614	0.07188	0.1932:0.5932:0.0:0.2136	.	49	Q9UGT4	SUSD2_HUMAN	C	49	ENSP00000351075:S49C	ENSP00000351075:S49C	S	+	2	0	SUSD2	22909094	0.000000	0.05858	0.353000	0.25747	0.062000	0.15995	-3.602000	0.00418	0.371000	0.24564	0.449000	0.29647	TCT		0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		57	542	0	0	0	1	0	57	542					G	24579094	C	G	24579094	3	3	50	1	0	0	0	0	1	0	0	0	15460	913	32	5	152	5	SUSD2	22	24579094	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	64	24579094	26725472	153	6232											
THOC5	8563	broad.mit.edu	37	chr22	29915009	29915009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctagggatgcaaacTgtttgtggagggccaggcgg	16	8	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:29915009T>C	ENST00000490103.1	-	15	1597	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	492					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGATGCAAACTGTTTGTGGAG	0.507																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1474-1476)cAg>cGg		THO complex 5							231	197	209					22																	29915009		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915009T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1475A>G	22.37:g.29915009T>C	ENSP00000420306:p.Gln492Arg					CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R	p.Q492R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			15	1597	-			492					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1475A>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858213	0.91433	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.29274	-1.0017	10	0.45353	T	0.12	-17.1228	15.0502	0.71862	0.0:0.0:0.0:1.0	.	492	Q13769	THOC5_HUMAN	R	492	ENSP00000420306:Q492R;ENSP00000380970:Q492R;ENSP00000380969:Q492R;ENSP00000380971:Q492R	ENSP00000380969:Q492R	Q	-	2	0	THOC5	28245009	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.779000	0.85648	2.201000	0.70794	0.533000	0.62120	CAG		0.507	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		59	577	0	0	0	1	0	59	577					C	29915009	T	C	29915009	3	2	50	1	0	0	0	0	1	0	0	0	15920	1580	55	4	600	4	THOC5	22	29915009	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	5335915	29915009	21389557	154	6233											
TMPRSS6	164656	broad.mit.edu	37	chr22	37466587	37466587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgatgagggcccccccaCagatgtgtcgaccccgaacc	11	17	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:37466587C>A	ENST00000346753.3	-	15	1921	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	602	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCCCCCCCACAGATGTGTCG	0.662																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1777-1779)tGt>tTt		transmembrane protease, serine 6							53	56	55					22																	37466587		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466587C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1805G>T	22.37:g.37466587C>A	ENSP00000334962:p.Cys602Phe					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.C602F	p.C593F			Q8IU80	TMPS6_HUMAN			15	1918	-			602			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1778G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928706	0.92389	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97650	1.0154	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	593;602	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	F	593;602;593;593	ENSP00000371211:C593F;ENSP00000334962:C602F;ENSP00000385453:C593F;ENSP00000384964:C593F	ENSP00000334962:C602F	C	-	2	0	TMPRSS6	35796533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.741000	0.84997	2.540000	0.85666	0.591000	0.81541	TGT		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		16	343	1	0	6.49762e-13	1	6.98801e-13	16	343					A	37466587	C	A	37466587	3	1	50	1	0	0	0	0	1	0	0	0	16303	478	17	3	646	3	TMPRSS6	22	37466587	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7551578	37466587	13837979	155	6234											
JOSD1	9929	broad.mit.edu	37	chr22	39084975	39084975	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctccaatccactcgggcatCttgagtttggagtcgaggtt	11	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:39084975C>A	ENST00000216039.5	-	3	1153	c.474G>T	c.(472-474)aaG>aaT	p.K158N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	158	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACTCGGGCATCTTGAGTTTGG	0.547																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(472-474)aaG>aaT		Josephin domain containing 1							127	108	114					22																	39084975		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39084975C>A		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.474G>T	22.37:g.39084975C>A	ENSP00000216039:p.Lys158Asn						p.K158N	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1153	-	Melanoma(58;0.04)		158			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.474G>T	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.826872|2.826872	0.50739|0.50739	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.42900	.|0.96	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.046800	.|0.85682	.|D	.|0.000000	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.14438	.|0.01	.|B	.|0.19666	.|0.026	T|T	0.08006|0.08006	-1.0743|-1.0743	5|10	.|0.27082	.|T	.|0.32	.|.	12.9775|12.9775	0.58546|0.58546	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|158	.|Q15040	.|JOS1_HUMAN	Y|N	110|158	.|ENSP00000216039:K158N	.|ENSP00000216039:K158N	D|K	-|-	1|3	0|2	JOSD1|JOSD1	37414921|37414921	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	2.113000|2.113000	0.41902|0.41902	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.547	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		17	417	1	0	2.5808e-16	1	2.78873e-16	17	417					A	39084975	C	A	39084975	3	1	50	1	0	0	0	0	1	0	0	0	7988	912	32	3	142	3	JOSD1	22	39084975	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1618388	39084975	12219591	156	6235											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620150	41620150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcgcctacggctcctcTacgaggatggtgacagtgac	15	11	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:41620150T>A	ENST00000216237.5	+	9	1227	c.1069T>A	c.(1069-1071)Tac>Aac	p.Y357N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	357					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGCTCCTCTACGAGGATGG	0.612																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1069-1071)Tac>Aac		l(3)mbt-like 2 (Drosophila)							75	67	70					22																	41620150		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620150T>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1069T>A	22.37:g.41620150T>A	ENSP00000216237:p.Tyr357Asn						p.Y357N	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1227	+			357					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1069T>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987915	0.93106	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72947	-0.4137	10	0.87932	D	0	.	15.1768	0.72920	0.0:0.0:0.0:1.0	.	357;357	Q969R5-3;Q969R5	.;LMBL2_HUMAN	N	357	ENSP00000216237:Y357N	ENSP00000216237:Y357N	Y	+	1	0	L3MBTL2	39950096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.305000	0.72805	2.008000	0.58898	0.533000	0.62120	TAC		0.612	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		119	169	0	0	0	1	0	119	169					A	41620150	T	A	41620150	3	1	50	1	0	0	0	0	1	0	0	0	8623	1522	53	5	1103	5	L3MBTL2	22	41620150	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	2535175	41620150	9684416	157	6236											
BIK	638	broad.mit.edu	37	chr22	43524566	43524566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgttcttagaagtttcatgGacggtttcaccacacttaag	8	8	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:43524566G>C	ENST00000216115.2	+	4	388	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	109					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				AAGTTTCATGGACGGTTTCAC	0.517																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(325-327)Gac>Cac		BCL2-interacting killer (apoptosis-inducing)							130	126	128					22																	43524566		2203	4300	6503	SO:0001583	missense	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43524566G>C	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.325G>C	22.37:g.43524566G>C	ENSP00000216115:p.Asp109His						p.D109H	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			4	388	+		Ovarian(80;0.0694)	109					Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	37	c.325G>C	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929535	0.34096	.	.	ENSG00000100290	ENST00000216115	T	0.25414	1.8	3.65	-1.33	0.09172	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.16958	-1.0385	9	0.38643	T	0.18	2.1384	4.952	0.14019	0.2262:0.357:0.4168:0.0	.	109	Q13323	BIK_HUMAN	H	109	ENSP00000216115:D109H	ENSP00000216115:D109H	D	+	1	0	BIK	41854510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.087000	0.12528	0.462000	0.41574	GAC		0.517	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		141	136	0	0	0	1	0	141	136					C	43524566	G	C	43524566	3	2	50	1	0	0	0	0	1	0	0	0	1433	1174	41	5	335	5	BIK	22	43524566	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1904416	43524566	7780000	158	6237											
PIR	8544	broad.mit.edu	37	chrX	15497935	15497946	+	Splice_Site	DEL	GATTTTTTAACT	GATTTTTTAACT	-													aaacagtaaaaacggatccaGattttttaactgaaataaaa					rs545530472		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:15497935_15497946delGATTTTTTAACT	ENST00000380421.3	-	3	557_566	c.97_106delAGTTAAAAAATC	c.(97-108)agttaaaaaatc>tc	p.S*KI33del	PIR_ENST00000380420.5_Splice_Site_p.S*KI33del|PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	33					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AACGGATCCAGATTTTTTAACTGAAATAAAAA	0.335																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e3-1		pirin (iron-binding nuclear protein)																																				SO:0001630	splice_region_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15497935_15497946delGATTTTTTAACT	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.97-1AGTTAAAAAATC>-	X.37:g.15497935_15497946delGATTTTTTAACT						BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Splice_Site_p.33_splice	p.33_splice	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			3	557_566	-	Hepatocellular(33;0.183)		33					Q5U0G0|Q6FHD2	Splice_Site	DEL	ENST00000380421.3	37	c.96_splice	CCDS14167.1																																																																																				0.335	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662	In_Frame_Del	9	170						9	170	---	---	---	---	-	15497946	GATTTTTTAACT	-	15497935	8	5	50	1	0	1	0	1	0	0	1	0	11986	933	33	0	798	0	PIR	23	15497935	Splice_Site	DEL	GATTTTTTAACT	TCGA-FB-AAPU-01A-31D-A40W-08		15497935	139772625	159	6238											
MAP3K15	389840	broad.mit.edu	37	chrX	19418752	19418752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtactgcctgctgtattgGttatcatctctttgaccaaa	7	11	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:19418752G>T	ENST00000338883.4	-	14	1873	c.1874C>A	c.(1873-1875)aCc>aAc	p.T625N	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	625							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGCTGTATTGGTTATCATCTC	0.433																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1873-1875)aCc>aAc		mitogen-activated protein kinase kinase kinase 15							313	268	283					X																	19418752		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19418752G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1874C>A	X.37:g.19418752G>T	ENSP00000345629:p.Thr625Asn					MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	p.T625N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			14	1873	-	Hepatocellular(33;0.183)		625					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1874C>A		.	.	.	.	.	.	.	.	.	.	G	11.64	1.698917	0.30142	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72615	-0.64;-0.67;-0.63	5.28	2.26	0.28386	.	0.382440	0.28371	N	0.015585	T	0.61800	0.2376	L	0.48642	1.525	0.09310	N	1	B;B	0.23650	0.089;0.024	B;B	0.28709	0.093;0.008	T	0.51616	-0.8683	10	0.33141	T	0.24	.	10.3167	0.43740	0.0:0.2752:0.5848:0.14	.	100;625	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	N	625;60;457	ENSP00000345629:T625N;ENSP00000352093:T60N;ENSP00000428356:T457N	ENSP00000345629:T625N	T	-	2	0	MAP3K15	19328673	0.896000	0.30565	0.038000	0.18304	0.704000	0.40688	2.177000	0.42509	0.397000	0.25310	0.597000	0.82753	ACC		0.433	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		7	1000	1	0	1.12685e-05	1	1.17316e-05	7	1000					T	19418752	G	T	19418752	3	4	50	1	0	0	0	0	1	0	0	0	9290	1261	44	3	2131	3	MAP3K15	23	19418752	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	3920817	19418752	135851808	160	6239											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		5	307	1	0	0.000602214	1	0.000615717	5	307					T	26212431	G	T	26212431	2	4	50	1	0	0	0	0	0	0	0	1	9220	1074	38	3		3	MAGEB6	23	26212431	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6793679	26212431	129058129	161	6240											
CXorf27	25763	broad.mit.edu	37	chrX	37850202	37850202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtggaccgcgttgtgcAagatgaacgagacgtccaaa	12	10	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:37850202A>T	ENST00000341016.3	+	1	133	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		37										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CGCGTTGTGCAAGATGAACGA	0.478																																						ENST00000341016.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(109-111)cAa>cTa		chromosome X open reading frame 27							87	81	83					X																	37850202		2011	4167	6178	SO:0001583	missense	25763						DNA binding	g.chrX:37850202A>T																												ENST00000341016.3:c.110A>T	X.37:g.37850202A>T	ENSP00000339511:p.Gln37Leu					TM4SF2_ENST00000465127.1_Intron	p.Q37L	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN			1	133	+			37					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.110A>T	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616948	0.46736	.	.	ENSG00000187516	ENST00000341016	T	0.48836	0.8	3.7	-3.49	0.04724	Histone-fold (2);	.	.	.	.	T	0.53238	0.1784	L	0.48642	1.525	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.52305	-0.8593	9	0.59425	D	0.04	.	9.1117	0.36732	0.443:0.0:0.557:0.0	.	37	O75409	HYPM_HUMAN	L	37	ENSP00000339511:Q37L	ENSP00000339511:Q37L	Q	+	2	0	CXorf27	37735146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.197000	0.17197	-0.845000	0.04179	0.417000	0.27973	CAA		0.478	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			59	120	0	0	0	1	0	59	120					T	37850202	A	T	37850202	3	4	50	1	0	0	0	0	1	0	0	0	4116	130	5	5	112	5	CXorf27	23	37850202	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	11637771	37850202	117420358	162	6241											
DGKK	139189	broad.mit.edu	37	chrX	50136189	50136189	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaataagtcgaacacttgaGatgggttaaggtattgcttg	11	5	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50136189G>T	ENST00000376025.2	-	0	1615							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACACTTGAGATGGGTTAAG	0.453																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							74	66	69					X																	50136189		1990	4141	6131			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136189G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136189G>T										Q5KSL6	DGKK_HUMAN			0	1615	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	84	1	0	0.00307968	1	0.00313467	7	84					T	50136189	G	T	50136189	1	4	50	0	1	0	0	0	0	0	0	0	4488	942	33	3		3	DGKK	23	50136189	RNA	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	12285987	50136189	105134371	163	6242											
SHROOM4	57477	broad.mit.edu	37	chrX	50378166	50378166	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccttctgtggcaaggggaCcacaggctcagatgccctgc	12	14	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50378166C>G	ENST00000289292.7	-	4	1190	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V303L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	303					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCAAGGGGACCACAGGCTCA	0.587																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(907-909)Gtc>Ctc		shroom family member 4							32	21	25					X																	50378166		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378166C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.907G>C	X.37:g.50378166C>G	ENSP00000289292:p.Val303Leu					SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.V303L	p.V303L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	932	-	Ovarian(276;0.236)		303					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.907G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	1.010	-0.688151	0.03328	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13538	2.99;2.99;2.58	5.95	5.1	0.69264	.	1.004360	0.08012	N	0.990475	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.32745	-0.9895	10	0.10636	T	0.68	.	13.1671	0.59577	0.0:0.9205:0.0:0.0795	.	303	Q9ULL8	SHRM4_HUMAN	L	303;303;187	ENSP00000289292:V303L;ENSP00000365188:V303L;ENSP00000421450:V187L	ENSP00000289292:V303L	V	-	1	0	SHROOM4	50394906	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	1.313000	0.33585	1.279000	0.44446	0.600000	0.82982	GTC		0.587	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		23	48	0	0	0	1	0	23	48					G	50378166	C	G	50378166	3	3	50	1	0	0	0	0	1	0	0	0	14346	507	18	5	3598	5	SHROOM4	23	50378166	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	241977	50378166	104892394	164	6243											
RNF128	79589	broad.mit.edu	37	chrX	105970227	105970227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtgcttcctgctggcCctgagtccgcaggcacccgg	14	15	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:105970227C>T	ENST00000255499.2	+	1	334	c.84C>T	c.(82-84)gcC>gcT	p.A28A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	28					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCCTGCTGGCCCTGAGTCCGC	0.711																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(82-84)gcC>gcT		ring finger protein 128, E3 ubiquitin protein ligase							12	11	11					X																	105970227		2191	4283	6474	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970227C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.84C>T	X.37:g.105970227C>T						RNF128_ENST00000324342.3_Intron	p.A28A	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			1	334	+			28					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.84C>T	CCDS14521.1																																																																																				0.711	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		11	26	0	0	0	1	0	11	26					T	105970227	C	T	105970227	2	4	50	1	0	0	0	0	0	0	0	1	13486	610	22	2		2	RNF128	23	105970227	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	55592061	105970227	49300333	165	6244											
ACSL4	2182	broad.mit.edu	37	chrX	108921610	108921610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatacataacaatggccatGtctgaaggcgttggtctact	10	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:108921610G>T	ENST00000469796.2	-	7	1209	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ACSL4_ENST00000340800.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	271					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CAATGGCCATGTCTGAAGGCG	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(811-813)gaC>gaA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						131	111	118					X																	108921610		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|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.chrX:108921610G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.813C>A	X.37:g.108921610G>T	ENSP00000419171:p.Asp271Glu					ACSL4_ENST00000469796.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E	p.D271E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			8	1317	-			271					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.813C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875527	0.72180	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.8	0.43715	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.92412	3.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.50734	-0.8793	10	0.87932	D	0	-16.4258	8.8404	0.35137	0.2351:0.0:0.7649:0.0	.	271	O60488	ACSL4_HUMAN	E	230;271;271	ENSP00000262835:D230E;ENSP00000419171:D271E;ENSP00000339787:D271E	ENSP00000339787:D271E	D	-	3	2	ACSL4	108808266	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.011000	0.40922	0.533000	0.28675	0.600000	0.82982	GAC		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		59	359	1	0	2.02627e-32	1	2.27581e-32	59	359					T	108921610	G	T	108921610	3	4	50	1	0	0	0	0	1	0	0	0	179	1368	48	3	1362	3	ACSL4	23	108921610	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2951383	108921610	46348950	166	6245											
KIAA1210	57481	broad.mit.edu	37	chrX	118221500	118221500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttggtgcttgacttcaggCtttgataaagatttggaagg	12	5	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:118221500C>A	ENST00000402510.2	-	11	3692	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1231										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACTTCAGGCTTTGATAAAG	0.448																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3691-3693)aaG>aaT		KIAA1210							39	36	37					X																	118221500		1879	4107	5986	SO:0001583	missense	57481							g.chrX:118221500C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3693G>T	X.37:g.118221500C>A	ENSP00000384670:p.Lys1231Asn						p.K1231N	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	3692	-			1231					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3693G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.176|8.176	0.792717|0.792717	0.16327|0.16327	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.38|4.38	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.37573	.|0.6	.|B	.|0.36289	.|0.221	T|T	0.22977|0.22977	-1.0201|-1.0201	5|9	.|0.40728	.|T	.|0.16	.|.	0.6478|0.6478	0.00821|0.00821	0.292:0.2336:0.2834:0.191|0.292:0.2336:0.2834:0.191	.|.	.|1231	.|Q9ULL0	.|K1210_HUMAN	S|N	638|1231	.|ENSP00000384670:K1231N	.|ENSP00000384670:K1231N	A|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105528|118105528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.729000|-0.729000	0.04920|0.04920	-0.638000|-0.638000	0.05509|0.05509	-0.192000|-0.192000	0.12808|0.12808	GCC|AAG		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		23	97	1	0	6.12954e-19	1	6.68677e-19	23	97					A	118221500	C	A	118221500	3	1	50	1	0	0	0	0	1	0	0	0	8244	796	28	3	1452	3	KIAA1210	23	118221500	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	9299890	118221500	37049060	167	6246											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1473						9	1473	---	---	---	---	-	140994641	CTC	-	140994639	7	5	50	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-FB-AAPU-01A-31D-A40W-08	22773139	140994639	14275921	168	6247											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	348						7	348	---	---	---	---	-	149639327	CAG	-	149639325	7	5	50	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-FB-AAPU-01A-31D-A40W-08	8644686	149639325	5631235	169	6248											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	100						9	100	---	---	---	---	-	4772585	CCA	-	4772583	7	5	51	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-FB-AAPZ-01A-11D-A40W-08		4772583	244478038	1	6249											
TAS1R2	80834	broad.mit.edu	37	chr1	19183978	19183978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaggaagtagagcacCggctggacattgttggagat	15	7	0	2	rs370454471	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:19183978C>T	ENST00000375371.3	-	2	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	110					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542													-|||	2	0.000399361	0.0	0.0	5008	,	,		22483	0.0		0.0	False		,,,				2504	0.002					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(328-330)ccG>ccA		taste receptor, type 1, member 2	Aspartame(DB00168)			1,4405		0,1,2202	195	146	163		330	-7.6	0.9	1		163	0,8600		0,0,4300	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		110/840	19183978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19183978C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.330G>A	1.37:g.19183978C>T						RP13-279N23.2_ENST00000494072.3_3'UTR	p.P110P	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	351	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	110					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.330G>A	CCDS187.1																																																																																				0.542	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			27	376	0	0	0	1	0	27	376					T	19183978	C	T	19183978	2	4	51	1	0	0	0	0	0	0	0	1	15615	639	23	1		1	TAS1R2	1	19183978	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	14411395	19183978	230066643	2	6250											
EPHA8	2046	broad.mit.edu	37	chr1	22924191	22924191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccggggaagtctgctaCgggaggctgcgggtgccagg	19	10	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:22924191C>T	ENST00000166244.3	+	11	2025	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGTCTGCTACGGGAGGCTGC	0.692																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1951-1953)taC>taT		EPH receptor A8							31	38	35					1																	22924191		2202	4299	6501	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924191C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1953C>T	1.37:g.22924191C>T							p.Y651Y	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2025	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	651			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1953C>T	CCDS225.1																																																																																				0.692	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		49	148	0	0	0	1	0	49	148					T	22924191	C	T	22924191	2	4	51	1	0	0	0	0	0	0	0	1	5191	547	19	1		1	EPHA8	1	22924191	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	3740213	22924191	226326430	3	6251											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc					rs370363181		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:35365852delC	ENST00000373347.1	-	4	1398	c.1130delG	c.(1129-1131)ggtfs	p.G377fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	377					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGGGTAACCCCCCCAGTC	0.602																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1129-1131)gtfs		discs, large (Drosophila) homolog-associated protein 3							81	82	81					1																	35365852		2203	4300	6503	SO:0001589	frameshift_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365852delC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1130delG	1.37:g.35365852delC	ENSP00000362444:p.Gly377fs					DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs	p.G377fs			O95886	DLGP3_HUMAN			4	1398	-		Myeloproliferative disorder(586;0.0393)	377					Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	ENST00000373347.1	37	c.1130delG	CCDS30670.1																																																																																				0.602	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	756						7	756	---	---	---	---	-	35365852	C	-	35365852	7	5	51	1	0	1	0	1	0	0	0	0	4577	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-FB-AAPZ-01A-11D-A40W-08	12441661	35365852	213884769	4	6252											
THRAP3	9967	broad.mit.edu	37	chr1	36752394	36752394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcttctaaggatagccGgccatctcaggctgccgggg	13	13	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:36752394G>A	ENST00000354618.5	+	4	787	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	188	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGATAGCCGGCCATCTCAG	0.527			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(562-564)cGg>cAg		thyroid hormone receptor associated protein 3							108	117	114					1																	36752394		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752394G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.563G>A	1.37:g.36752394G>A	ENSP00000346634:p.Arg188Gln					THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q	p.R188Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	787	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	188			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.563G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245450	0.59103	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13089	2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.18173	0.0436	L	0.41236	1.265	0.51233	D	0.999918	D	0.63046	0.992	P	0.45753	0.492	T	0.00273	-1.1858	10	0.54805	T	0.06	-2.4011	18.8828	0.92364	0.0:0.0:1.0:0.0	.	188	Q9Y2W1	TR150_HUMAN	Q	188	ENSP00000346634:R188Q;ENSP00000433825:R188Q	ENSP00000346634:R188Q	R	+	2	0	THRAP3	36524981	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.476000	0.73587	2.711000	0.92665	0.655000	0.94253	CGG		0.527	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	785	0	0	0	1	0	6	785					A	36752394	G	A	36752394	3	1	51	1	0	0	0	0	1	0	0	0	15926	1116	39	1	569	1	THRAP3	1	36752394	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	1386542	36752394	212498227	5	6253											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			10	593						10	593	---	---	---	---	-	44071948	GCG	-	44071946	7	5	51	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-FB-AAPZ-01A-11D-A40W-08	7319552	44071946	205178675	6	6254											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1578						7	1578	---	---	---	---	-	44489938	T	-	44489938	7	5	51	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-FB-AAPZ-01A-11D-A40W-08	417992	44489938	204760683	7	6255											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	962						12	962	---	---	---	---	-	74957826	CTT	-	74957824	6	5	51	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-FB-AAPZ-01A-11D-A40W-08	30467886	74957824	174292797	8	6256											
DENND2C	163259	broad.mit.edu	37	chr1	115130448	115130448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaggtgtgggacttacGgaatggttccctttggaaaa	15	6	0	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:115130448G>A	ENST00000393274.1	-	19	3182	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	DENND2C_ENST00000393277.1_Missense_Mutation_p.R741C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R796C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	853	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGACTTACGGAATGGTTCC	0.483																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2557-2559)Cgt>Tgt		DENN/MADD domain containing 2C							108	91	97					1																	115130448		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115130448G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2557C>T	1.37:g.115130448G>A	ENSP00000376955:p.Arg853Cys					DENND2C_ENST00000393277.1_Missense_Mutation_p.R741C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R796C	p.R853C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3182	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	853			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2557C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580899	0.65992	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.43294	0.95;0.95;0.95	5.9	5.9	0.94986	dDENN (3);	0.051427	0.85682	D	0.000000	T	0.36441	0.0967	L	0.52905	1.665	0.51767	D	0.999934	P;B	0.45715	0.865;0.113	B;B	0.43194	0.411;0.076	T	0.15122	-1.0448	10	0.46703	T	0.11	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	853;796	Q68D51;Q68D51-3	DEN2C_HUMAN;.	C	796;853;853;741	ENSP00000376957:R796C;ENSP00000376955:R853C;ENSP00000376958:R741C	ENSP00000358553:R853C	R	-	1	0	DENND2C	114931971	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.106000	0.71511	2.817000	0.96982	0.551000	0.68910	CGT		0.483	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		4	247	0	0	0	1	0	4	247					A	115130448	G	A	115130448	3	1	51	1	0	0	0	0	1	0	0	0	4446	1116	39	1	241	1	DENND2C	1	115130448	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	40172624	115130448	134120173	9	6257											
NBPF10	100132406	broad.mit.edu	37	chr1	145324376	145324376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgctggaggtagtaGcgcctgaagtcttgcaggac	17	8	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:145324376G>T	ENST00000342960.5	+	28	3606	c.3571G>T	c.(3571-3573)Gcg>Tcg	p.A1191S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAGGTAGTAGCGCCTGAAGT	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)Gcg>Tcg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324376G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3571G>T	1.37:g.145324376G>T	ENSP00000345684:p.Ala1191Ser					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.A1191S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3606	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3571G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	6.509	0.462112	0.12342	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.48387	-0.9040	5	0.37606	T	0.19	.	.	.	.	.	.	.	.	S	1191	ENSP00000345684:A1191S	ENSP00000345684:A1191S	A	+	1	0	NBPF10	144035733	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	-0.347000	0.07750	0.588000	0.29660	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	59	1	0	0.000157383	1	0.000160245	7	59					T	145324376	G	T	145324376	3	4	51	1	0	0	0	0	1	0	0	0	10234	971	34	3	3681	3	NBPF10	1	145324376	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	30193928	145324376	103926245	10	6258											
GBA	2629	broad.mit.edu	37	chr1	155209725	155209725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatactcagctccatccGtcgcccactgcgtgtactct	6	19	2	0	rs1141814		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:155209725G>A	ENST00000327247.5	-	4	491	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	GBA_ENST00000427500.3_Missense_Mutation_p.R87W|GBA_ENST00000536770.1_Intron|GBA_ENST00000428024.3_De_novo_Start_OutOfFrame|GBA_ENST00000368373.3_Missense_Mutation_p.R87W|GBA_ENST00000493842.1_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	87			R -> Q (in GD; 20% of normal activity).|R -> W (in GD; mild; dbSNP:rs1141814). {ECO:0000269|PubMed:10796875, ECO:0000269|PubMed:9153297, ECO:0000269|PubMed:9217217}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AGCTCCATCCGTCGCCCACTG	0.592									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM950561	GBA	M	rs1141814			glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						55	45	48					1																	155209725		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155209725G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.259C>T	1.37:g.155209725G>A	ENSP00000314508:p.Arg87Trp					GBA_ENST00000327247.5_Missense_Mutation_p.R87W|GBA_ENST00000368373.3_Missense_Mutation_p.R87W|GBA_ENST00000536770.1_Intron|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Missense_Mutation_p.R87W		NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		0	500	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Translation_Start_Site	SNP	ENST00000327247.5	37		CCDS1102.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906424	0.33628	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99652	-4.04;-6.3;-6.3	3.46	1.33	0.21861	.	0.081577	0.45867	N	0.000328	D	0.99278	0.9748	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.973	D	0.99107	1.0845	10	0.87932	D	0	.	3.8119	0.08801	0.1327:0.0:0.6312:0.2361	rs1141814;rs3205618;rs17401365	87;87	B7Z5G2;P04062	.;GLCM_HUMAN	W	87;87;87;44;87	ENSP00000402577:R87W;ENSP00000357357:R87W;ENSP00000314508:R87W	ENSP00000314508:R87W	R	-	1	2	GBA	153476349	1.000000	0.71417	0.240000	0.24138	0.020000	0.10135	2.947000	0.49058	0.802000	0.34089	-0.356000	0.07607	CGG		0.592	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		13	126	0	0	0	1	0	13	126					A	155209725	G	A	155209725	3	1	51	1	0	0	0	0	1	0	0	0	6294	1144	40	1	1387	1	GBA	1	155209725	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	9885349	155209725	94040896	11	6259											
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	10	10	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					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)			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)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				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						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191	193	192					1																	160261696		2203	4300	6503	SO:0001819	synonymous_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.chr1:160261696G>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.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	880	0	0	0	1	0	6	880					A	160261696	G	A	160261696	2	1	51	1	0	0	0	0	0	0	0	1	3736	1195	42	2		2	COPA	1	160261696	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	5051971	160261696	88988925	12	6260											
FAM5C	339479	broad.mit.edu	37	chr1	190067294	190067294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaaagatctagacgacGctgaccaggtggggagagtt	15	6	1	5	rs367715031		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:190067294G>A	ENST00000367462.3	-	8	2386	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R617C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	719					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R719C(1)									TCTAGACGACGCTGACCAGGT	0.488																																						ENST00000367462.3																			1	Substitution - Missense(1)	p.R719C(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(2155-2157)Cgt>Tgt				G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	103	104		2155	5.7	1	1		104	0,8600		0,0,4300	no	missense	FAM5C	NM_199051.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	719/767	190067294	1,13005	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067294G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2155C>T	1.37:g.190067294G>A	ENSP00000356432:p.Arg719Cys					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R617C	p.R719C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2386	-	Prostate(682;0.198)		719					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2155C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841797	0.71488	2.27E-4	0.0	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.72	5.72	0.89469	.	0.060620	0.64402	D	0.000002	T	0.16041	0.0386	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.958	P;B	0.47573	0.55;0.248	T	0.01914	-1.1248	10	0.48119	T	0.1	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	617;719	B7Z260;Q76B58	.;FAM5C_HUMAN	C	719;617	ENSP00000356432:R719C;ENSP00000438022:R617C	ENSP00000356432:R719C	R	-	1	0	FAM5C	188333917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.884000	0.87274	2.695000	0.91970	0.650000	0.86243	CGT		0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		139	191	0	0	0	1	0	139	191					A	190067294	G	A	190067294	3	1	51	1	0	0	0	0	1	0	0	0	5619	1087	38	1	149	1	FAM5C	1	190067294	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	29805598	190067294	59183327	13	6261											
CRB1	23418	broad.mit.edu	37	chr1	197313436	197313436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgaattggaaattgaCgaatgttggtcccagccttg	11	7	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:197313436C>T	ENST00000367400.3	+	3	813	c.678C>T	c.(676-678)gaC>gaT	p.D226D	CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.D226D|CRB1_ENST00000535699.1_Silent_p.D157D|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	226	EGF-like 6; calcium-binding. {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)			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						TGGAAATTGACGAATGTTGGT	0.418																																						ENST00000367400.3																			0				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						c.(676-678)gaC>gaT		crumbs homolog 1 (Drosophila)							204	202	203					1																	197313436		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313436C>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.678C>T	1.37:g.197313436C>T						CRB1_ENST00000538660.1_Silent_p.D226D|CRB1_ENST00000535699.1_Silent_p.D157D|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron	p.D226D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			3	813	+			226			EGF-like 6; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.678C>T	CCDS1390.1																																																																																				0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	862	0	0	0	1	0	6	862					T	197313436	C	T	197313436	2	4	51	1	0	0	0	0	0	0	0	1	3857	535	19	1		1	CRB1	1	197313436	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	7246142	197313436	51937185	14	6262											
LBR	3930	broad.mit.edu	37	chr1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaccacttcaccatcgGcaaatttcctacttggcatt	4	14	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(19-21)gCc>gTc		lamin B receptor							229	252	245					1																	225611758		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611758G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.20C>T	1.37:g.225611758G>A	ENSP00000339883:p.Ala7Val					LBR_ENST00000272163.4_Missense_Mutation_p.A7V	p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	145	-	Breast(184;0.165)		7			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.20C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112372	0.56398	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97041	-4.22;-4.22;0.44	5.51	4.58	0.56647	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.361768	0.29145	N	0.013017	D	0.93138	0.7815	N	0.19112	0.55	0.33255	D	0.558951	B;B	0.24258	0.1;0.02	B;B	0.28916	0.096;0.017	D	0.92783	0.6242	10	0.35671	T	0.21	-12.0216	12.7545	0.57325	0.0778:0.0:0.9222:0.0	.	7;7	C9JXK0;Q14739	.;LBR_HUMAN	V	7	ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V	ENSP00000272163:A7V	A	-	2	0	LBR	223678381	0.999000	0.42202	0.893000	0.35052	0.970000	0.65996	3.148000	0.50647	1.285000	0.44548	0.655000	0.94253	GCC		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		9	1592	0	0	0	1	0	9	1592					A	225611758	G	A	225611758	3	1	51	1	0	0	0	0	1	0	0	0	8683	1203	42	2	1879	2	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	28298322	225611758	23638863	15	6263											
RYR2	6262	broad.mit.edu	37	chr1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-													ttcttggacactataacaacTttttttttgccgctcacctt							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					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)			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)			CTATAACAACTTTTTTTTTGC	0.403																																						ENST00000366574.2																			0				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						c.(14209-14211)ttfs		ryanodine receptor 2 (cardiac)							241	211	220					1																	237969494		1888	4108	5996	SO:0001589	frameshift_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.chr1:237969494delT	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.14209delT	1.37:g.237969494delT	ENSP00000355533:p.Phe4739fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	p.F4739fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4739					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14209delT	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	203						7	203	---	---	---	---	-	237969494	T	-	237969494	7	5	51	1	0	1	0	1	0	0	0	0	13819	1609	56	0	14603	0	RYR2	1	237969494	Frame_Shift_Del	DEL	T	TCGA-FB-AAPZ-01A-11D-A40W-08	12357736	237969494	11281127	16	6264											
ITSN2	50618	broad.mit.edu	37	chr2	24432754	24432754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagagccagaggaaacaGcaaactgcttgaccatgtag	10	10	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:24432754G>A	ENST00000355123.4	-	35	4849	c.4406C>T	c.(4405-4407)gCt>gTt	p.A1469V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1442V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGAAACAGCAAACTGCTT	0.448																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4405-4407)gCt>gTt		intersectin 2							168	152	158					2																	24432754		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432754G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4406C>T	2.37:g.24432754G>A	ENSP00000347244:p.Ala1469Val					ITSN2_ENST00000361999.3_Missense_Mutation_p.A1442V	p.A1469V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			35	4849	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1469			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4406C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014094	0.54468	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.63417	-0.04;-0.04;-0.04	4.26	4.26	0.50523	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.48295	0.1492	L	0.36672	1.1	0.24826	N	0.992551	B;B	0.32829	0.386;0.267	B;B	0.25405	0.06;0.027	T	0.29366	-1.0014	9	0.21540	T	0.41	.	12.5625	0.56291	0.0:0.0:1.0:0.0	.	1442;1469	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	V	1442;1469;1442	ENSP00000354561:A1442V;ENSP00000347244:A1469V;ENSP00000370250:A1442V	ENSP00000347244:A1469V	A	-	2	0	ITSN2	24286258	0.970000	0.33590	0.372000	0.25991	0.973000	0.67179	2.938000	0.48987	2.102000	0.63906	0.455000	0.32223	GCT		0.448	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		6	697	0	0	0	1	0	6	697					A	24432754	G	A	24432754	3	1	51	1	0	0	0	0	1	0	0	0	7957	971	34	2	711	2	ITSN2	2	24432754	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		24432754	218766619	17	6265											
TMEM178	130733	broad.mit.edu	37	chr2	39934299	39934299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcttgacccagcacGtggctggactcctgttcctc	12	13	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:39934299G>A	ENST00000281961.2	+	3	681	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	209						integral component of membrane (GO:0016021)											GACCCAGCACGTGGCTGGACT	0.602																																						ENST00000281961.2																			0											c.(625-627)Gtg>Atg		transmembrane protein 178A							63	54	57					2																	39934299		2203	4300	6503	SO:0001583	missense	130733							g.chr2:39934299G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.625G>A	2.37:g.39934299G>A	ENSP00000281961:p.Val209Met					TMEM178A_ENST00000482239.1_3'UTR	p.V209M	NM_152390.2	NP_689603.2					3	681	+								Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.625G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478963	0.84747	.	.	ENSG00000152154	ENST00000281961	T	0.69040	-0.37	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.64404	1.975	0.58432	D	0.999996	D	0.76494	0.999	D	0.63793	0.918	T	0.77584	-0.2533	9	.	.	.	-11.7503	16.2065	0.82133	0.0:0.0:1.0:0.0	.	209	Q8NBL3	TM178_HUMAN	M	209	ENSP00000281961:V209M	.	V	+	1	0	TMEM178	39787803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.824000	0.69279	2.433000	0.82419	0.650000	0.86243	GTG		0.602	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		11	167	0	0	0	1	0	11	167					A	39934299	G	A	39934299	3	1	51	1	0	0	0	0	1	0	0	0	16147	1145	40	1	635	1	TMEM178	2	39934299	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	15501545	39934299	203265074	18	6266											
EHBP1	23301	broad.mit.edu	37	chr2	63223823	63223823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagtaggagaattggcaGcactagagaatgagcaaaag	13	4	0	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:63223823G>A	ENST00000263991.5	+	21	3720	c.3238G>A	c.(3238-3240)Gca>Aca	p.A1080T	EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T|EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1080						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAATTGGCAGCACTAGAGAA	0.443																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(3238-3240)Gca>Aca		EH domain binding protein 1							124	118	120					2																	63223823		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63223823G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3238G>A	2.37:g.63223823G>A	ENSP00000263991:p.Ala1080Thr					EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T	p.A1080T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		21	3720	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		1080					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.3238G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657246	0.88154	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.19	5.19	0.71726	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.57435	-0.7812	10	0.32370	T	0.25	.	18.7221	0.91698	0.0:0.0:1.0:0.0	.	1045;1009;1080	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	T	1009;1009;1080;1045;1045;51	ENSP00000384143:A1009T;ENSP00000403783:A1009T;ENSP00000263991:A1080T;ENSP00000346482:A1045T;ENSP00000385524:A1045T	ENSP00000263991:A1080T	A	+	1	0	EHBP1	63077327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.438000	0.82558	0.650000	0.86243	GCA		0.443	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		5	426	0	0	0	1	0	5	426					A	63223823	G	A	63223823	3	1	51	1	0	0	0	0	1	0	0	0	4991	971	34	2	3316	2	EHBP1	2	63223823	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	23289524	63223823	179975550	19	6267											
TCF7L1	83439	broad.mit.edu	37	chr2	85532397	85532397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcctggtctccagtcGgttctctcctcacatggtgg	11	14	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:85532397G>A	ENST00000282111.3	+	8	1135	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	287	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GTCTCCAGTCGGTTCTCTCCT	0.627																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(859-861)cGg>cAg		transcription factor 7-like 1 (T-cell specific, HMG-box)							118	118	118					2																	85532397		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532397G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.860G>A	2.37:g.85532397G>A	ENSP00000282111:p.Arg287Gln						p.R287Q	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			8	1135	+			287			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.860G>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381282	0.82792	.	.	ENSG00000152284	ENST00000282111	D	0.98617	-5.03	5.18	5.18	0.71444	.	0.057692	0.64402	D	0.000001	D	0.99001	0.9659	M	0.77820	2.39	0.45183	D	0.99819	D	0.76494	0.999	D	0.72625	0.978	D	0.99785	1.1029	10	0.72032	D	0.01	.	16.1893	0.81975	0.0:0.0:1.0:0.0	.	287	Q9HCS4	TF7L1_HUMAN	Q	287	ENSP00000282111:R287Q	ENSP00000282111:R287Q	R	+	2	0	TCF7L1	85385908	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.782000	0.99034	2.401000	0.81631	0.591000	0.81541	CGG		0.627	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		146	447	0	0	0	1	0	146	447					A	85532397	G	A	85532397	3	1	51	1	0	0	0	0	1	0	0	0	15749	1116	39	1	890	1	TCF7L1	2	85532397	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	22308574	85532397	157666976	20	6268											
CD8B	926	broad.mit.edu	37	chr2	87085431	87085431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctcagccagtagatgCgcatgttactgagggagatt	13	8	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:87085431C>T	ENST00000390655.6	-	2	210	c.152G>A	c.(151-153)cGc>cAc	p.R51H	CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	51	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCAGTAGATGCGCATGTTACT	0.552																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(151-153)cGc>cAc		CD8b molecule							132	113	119					2																	87085431		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085431C>T		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.152G>A	2.37:g.87085431C>T	ENSP00000375070:p.Arg51His					CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H	p.R51H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	210	-			51			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.152G>A	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796172	0.50208	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.49	0.103	0.14526	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.342240	0.04418	N	0.367173	T	0.63283	0.2498	N	0.08118	0	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;P;D;D	0.68943	0.961;0.961;0.93;0.899;0.91;0.934	T	0.56860	-0.7909	10	0.35671	T	0.21	-3.9365	7.4646	0.27314	0.0:0.3982:0.5015:0.1003	.	51;51;51;51;51;51	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	H	51	ENSP00000377358:R51H;ENSP00000377356:R51H;ENSP00000340592:R51H;ENSP00000331172:R51H;ENSP00000375070:R51H	ENSP00000331172:R51H	R	-	2	0	CD8B	86938942	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.174000	0.09839	0.009000	0.14813	-0.140000	0.14226	CGC		0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		117	225	0	0	0	1	0	117	225					T	87085431	C	T	87085431	3	4	51	1	0	0	0	0	1	0	0	0	3054	768	27	1	774	1	CD8B	2	87085431	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	1553034	87085431	156113942	21	6269											
RBM45	129831	broad.mit.edu	37	chr2	178990889	178990889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaatctaacaaacggCaaagaacttactgattcttg	8	7	2	4			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:178990889C>G	ENST00000286070.5	+	9	1503	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	473					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)			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)			TAACAAACGGCAAAGAACTTA	0.348																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1411-1413)Caa>Gaa		RNA binding motif protein 45							76	69	71					2																	178990889		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178990889C>G	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.1411C>G	2.37:g.178990889C>G	ENSP00000286070:p.Gln471Glu					RBM45_ENST00000464647.1_3'UTR	p.Q471E	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		9	1503	+			473					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.1411C>G	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.747532|3.747532	0.69533|0.69533	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000424099|ENST00000286070	.|T	.|0.05081	.|3.5	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.113073	.|0.64402	.|D	.|0.000007	T|T	0.10252|0.10252	0.0251|0.0251	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.46859	.|0.885	.|B	.|0.42593	.|0.392	T|T	0.02705|0.02705	-1.1121|-1.1121	5|10	.|0.44086	.|T	.|0.13	-14.8272|-14.8272	18.9873|18.9873	0.92777|0.92777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|471	.|Q8IUH3-3	.|.	G|E	69|471	.|ENSP00000286070:Q471E	.|ENSP00000286070:Q471E	A|Q	+|+	2|1	0|0	RBM45|RBM45	178699135|178699135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.796000|5.796000	0.69080|0.69080	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.348	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		112	184	0	0	0	1	0	112	184					G	178990889	C	G	178990889	3	3	51	1	0	0	0	0	1	0	0	0	13189	711	25	5	1445	5	RBM45	2	178990889	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	91905458	178990889	64208484	22	6270											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {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.R850C(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						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(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						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124	126	125					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>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.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	734	0	0	0	1	0	6	734					A	196825327	G	A	196825327	3	1	51	1	0	0	0	0	1	0	0	0	4622	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	17834438	196825327	46374046	23	6271											
C2orf67	151050	broad.mit.edu	37	chr2	210887849	210887849	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatcttgacataataAggctgccatgtcttcaccct	5	11	4	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:210887849A>T	ENST00000281772.9	-	15	3051	c.2788T>A	c.(2788-2790)Tta>Ata	p.L930I	KANSL1L_ENST00000418791.1_Missense_Mutation_p.L888I	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	930						histone acetyltransferase complex (GO:0000123)											TGACATAATAAGGCTGCCATG	0.433																																						ENST00000281772.9																			0											c.(2788-2790)Tta>Ata		KAT8 regulatory NSL complex subunit 1-like							95	94	94					2																	210887849		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210887849A>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2788T>A	2.37:g.210887849A>T	ENSP00000281772:p.Leu930Ile					KANSL1L_ENST00000418791.1_Missense_Mutation_p.L888I	p.L930I	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			15	3051	-			930					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2788T>A	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696932	0.48202	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.58	4.44	0.53790	.	0.000000	0.40728	N	0.001025	T	0.69975	0.3171	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.69760	-0.5058	9	0.42905	T	0.14	.	9.3678	0.38234	0.9182:0.0:0.0818:0.0	.	888;930	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	I	930;888	.	ENSP00000281772:L930I	L	-	1	2	C2orf67	210596094	1.000000	0.71417	0.987000	0.45799	0.213000	0.24496	4.078000	0.57606	2.131000	0.65755	0.472000	0.43445	TTA		0.433	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		97	403	0	0	0	1	0	97	403					T	210887849	A	T	210887849	3	4	51	1	0	0	0	0	1	0	0	0	2193	69	3	5	179	5	C2orf67	2	210887849	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	14062522	210887849	32311524	24	6272											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	444						8	444	---	---	---	---	-	227660810	GCT	-	227660808	7	5	51	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-FB-AAPZ-01A-11D-A40W-08	16772959	227660808	15538565	25	6273											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75	77	76					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		10	707						10	707	---	---	---	---	-	227896886	C	-	227896886	7	5	51	1	0	1	0	1	0	0	0	0	3702	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-FB-AAPZ-01A-11D-A40W-08	236078	227896886	15302487	26	6274											
RHOA	387	broad.mit.edu	37	chr3	49412957	49412957	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtccttgctgaagactatGagcaagcatgtctttccaca	9	10	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:49412957G>A	ENST00000418115.1	-	2	450	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RHOA_ENST00000422781.1_Silent_p.L22L|RHOA_ENST00000454011.2_Silent_p.L22L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGAAGACTATGAGCAAGCATG	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(64-66)ctC>ctT		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						148	133	138					3																	49412957		2203	4300	6503	SO:0001819	synonymous_variant	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412957G>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.66C>T	3.37:g.49412957G>A						RHOA_ENST00000454011.2_Silent_p.L22L|RHOA_ENST00000422781.1_Silent_p.L22L	p.L22L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	450	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.66C>T	CCDS2795.1																																																																																				0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		141	290	0	0	0	1	0	141	290					A	49412957	G	A	49412957	2	1	51	1	0	0	0	0	0	0	0	1	13381	1277	45	2		2	RHOA	3	49412957	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		49412957	148609473	27	6275											
TRAT1	50852	broad.mit.edu	37	chr3	108572493	108572493	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaacacagatgtgctaCgcctcacttgatcacagcgt	8	11	2	3	rs565838055	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:108572493C>A	ENST00000295756.6	+	6	560	c.330C>A	c.(328-330)taC>taA	p.Y110*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	110					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGTGCTACGCCTCACTTG	0.413																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(328-330)taC>taA		T cell receptor associated transmembrane adaptor 1							124	115	118					3																	108572493		2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572493C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.330C>A	3.37:g.108572493C>A	ENSP00000295756:p.Tyr110*					TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73*	p.Y110*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	560	+			110					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.330C>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740523	0.30865	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	.	.	.	5.63	-9.83	0.00482	.	0.110144	0.41001	D	0.000963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2088	16.9584	0.86266	0.0:0.7349:0.0:0.2651	.	.	.	.	X	110;73	.	ENSP00000295756:Y110X	Y	+	3	2	TRAT1	110055183	0.373000	0.25073	0.002000	0.10522	0.054000	0.15201	-0.978000	0.03778	-2.084000	0.00866	-0.140000	0.14226	TAC		0.413	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		58	413	1	0	3.74213e-36	1	4.19118e-36	58	413					A	108572493	C	A	108572493	4	1	51	1	0	0	0	0	0	1	0	0	16519	547	19	3	352	3	TRAT1	3	108572493	Nonsense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	59159536	108572493	89449937	28	6276											
PCOLCE2	26577	broad.mit.edu	37	chr3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-													tgttctgtagttgtaggcagTttttttggcctgaatatgta							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aaafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(811-813)aafs		procollagen C-endopeptidase enhancer 2							165	155	158					3																	142548586		2203	4300	6503	SO:0001589	frameshift_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548586delT	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.813delA	3.37:g.142548586delT	ENSP00000295992:p.Lys271fs					PCOLCE2_ENST00000485766.1_Intron	p.K271fs	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1119	-			271					B2RCH9|D3DNG4|Q9BRH3	Frame_Shift_Del	DEL	ENST00000295992.3	37	c.813delA	CCDS3127.1																																																																																				0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		7	973						7	973	---	---	---	---	-	142548586	T	-	142548586	7	5	51	1	0	1	0	1	0	0	0	0	11637	1722	60	0	450	0	PCOLCE2	3	142548586	Frame_Shift_Del	DEL	T	TCGA-FB-AAPZ-01A-11D-A40W-08	33976093	142548586	55473844	29	6277											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		11	336						11	336	---	---	---	---	-	149260196	CTG	-	149260194	7	5	51	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-FB-AAPZ-01A-11D-A40W-08	6711608	149260194	48762236	30	6278											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	841						8	841	---	---	---	---	-	150877786	C	-	150877786	7	5	51	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-FB-AAPZ-01A-11D-A40W-08	1617592	150877786	47144644	31	6279											
HS3ST1	9957	broad.mit.edu	37	chr4	11401393	11401393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctccgcggccgccacGtcggggtgcaggctgagcat	15	14	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:11401393G>A	ENST00000002596.5	-	2	1411	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.D79D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGGCCGCCACGTCGGGGTGCA	0.662																																						ENST00000002596.5																			1	Substitution - coding silent(1)	p.D79D(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(235-237)gaC>gaT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							59	50	53					4																	11401393		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401393G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.237C>T	4.37:g.11401393G>A							p.D79D	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1411	-			79					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.237C>T	CCDS3408.1																																																																																				0.662	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		8	313	0	0	0	1	0	8	313					A	11401393	G	A	11401393	2	1	51	1	0	0	0	0	0	0	0	1	7393	1136	40	1		1	HS3ST1	4	11401393	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		11401393	179752883	32	6280											
PROL1	58503	broad.mit.edu	37	chr4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaaattctcgccaaccGtcctcacacagtattgctca	4	15	4	0	rs369329579		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(631-633)cGt>cAt		proline rich, lacrimal 1		C	HIS/ARG	0,4052		0,0,2026	115	119	118		632	1.3	0	4		118	2,8366		0,2,4182	no	missense	PROL1	NM_021225.4	29	0,2,6208	AA,AG,GG		0.0239,0.0,0.0161	benign	211/249	71275677	2,12418	2026	4184	6210	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275677G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.632G>A	4.37:g.71275677G>A	ENSP00000382485:p.Arg211His						p.R211H	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	806	+		all_hematologic(202;0.196)	211			Thr-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.632G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361243	0.41801	0.0	2.39E-4	ENSG00000171199	ENST00000399575	T	0.42131	0.98	3.08	1.33	0.21861	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.08055	0.003	T	0.15206	-1.0445	9	0.44086	T	0.13	.	3.3539	0.07162	0.0:0.5226:0.2206:0.2569	.	211	Q99935	PROL1_HUMAN	H	211	ENSP00000382485:R211H	ENSP00000382485:R211H	R	+	2	0	PROL1	71310266	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.417000	0.07088	0.045000	0.15804	-0.187000	0.12897	CGT		0.448	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		101	289	0	0	0	1	0	101	289					A	71275677	G	A	71275677	3	1	51	1	0	0	0	0	1	0	0	0	12601	1145	40	1	638	1	PROL1	4	71275677	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	59874284	71275677	119878599	33	6281											
TIGD2	166815	broad.mit.edu	37	chr4	90035666	90035667	+	Frame_Shift_Ins	INS	-	-	A													aggcttcggaccataataagINSaaaaaaacagaagatccaaa							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:90035666_90035667insA	ENST00000317005.2	+	1	1699_1700	c.1541_1542insA	c.(1540-1545)agaaaafs	p.RK514fs	RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	514						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ACCATAATAAGAAAAAAACAGA	0.337																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(1540-1542)aaafs		tigger transposable element derived 2																																				SO:0001589	frameshift_variant	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90035666_90035667insA	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1548dupA	4.37:g.90035673_90035673dupA	ENSP00000317170:p.Arg514fs						p.K514fs	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	1699_1700	+		Hepatocellular(203;0.114)	514						Frame_Shift_Ins	INS	ENST00000317005.2	37	c.1541_1542insA	CCDS3633.1																																																																																				0.337	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		85	412						85	412	---	---	---	---	A	90035667	-	A	90035666	7	5	51	1	0	1	1	0	0	0	0	0	15948	942	33	0	1543	0	TIGD2	4	90035666	Frame_Shift_Ins	INS	-	TCGA-FB-AAPZ-01A-11D-A40W-08	18759989	90035666	101118610	34	6282											
ZDHHC11	79844	broad.mit.edu	37	chr5	840661	840661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcaccaagccaagaaAgtccagcaggagcacgagca	12	12	0	1	rs201008730		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:840661A>G	ENST00000283441.8	-	5	1116	c.733T>C	c.(733-735)Ttt>Ctt	p.F245L	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.F245L|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.F32L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	245						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F245L(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AAGCCAAGAAAGTCCAGCAGG	0.592																																						ENST00000283441.8																			2	Substitution - Missense(2)	p.F245L(2)	pancreas(2)	haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(733-735)Ttt>Ctt		zinc finger, DHHC-type containing 11																																				SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840661A>G	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.733T>C	5.37:g.840661A>G	ENSP00000283441:p.Phe245Leu					ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.F32L|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.F245L	p.F245L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		5	1116	-			245					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.733T>C	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.931045	0.00488	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511193;ENST00000511539	T;T;T;T	0.38560	1.96;1.96;1.59;1.13	2.74	-5.47	0.02600	.	.	.	.	.	T	0.14485	0.0350	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11690	-1.0577	9	0.19147	T	0.46	-6.725	3.1447	0.06467	0.0968:0.231:0.1463:0.5259	.	245;32	Q9H8X9;Q6UWR9	ZDH11_HUMAN;.	L	245;245;20;32	ENSP00000397719:F245L;ENSP00000283441:F245L;ENSP00000426873:F20L;ENSP00000427067:F32L	ENSP00000283441:F245L	F	-	1	0	ZDHHC11	893661	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.604000	0.02076	-2.822000	0.00343	-2.139000	0.00339	TTT		0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	1407	0	0	0	1	0	7	1407					G	840661	A	G	840661	3	3	51	1	0	0	0	0	1	0	0	0	17654	72	3	4	537	4	ZDHHC11	5	840661	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08		840661	180074599	35	6283											
TRIO	7204	broad.mit.edu	37	chr5	14358383	14358385	+	In_Frame_Del	DEL	CAG	CAG	-													acctcatcaagcgctttggcCagcagcagcagaccaccctg							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:14358383_14358385delCAG	ENST00000344204.4	+	12	2167_2169	c.2143_2145delCAG	c.(2143-2145)cagdel	p.Q718del	TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del|TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	718	Poly-Gln.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCTTTGGCCAGCAGCAGCAGA	0.631																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2143-2145)del		trio Rho guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14358383_14358385delCAG	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2143_2145delCAG	5.37:g.14358392_14358394delCAG	ENSP00000339299:p.Gln718del					TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del|TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del	p.Q718del	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			12	2167_2169	+	Lung NSC(4;0.000742)		718			Poly-Gln.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	In_Frame_Del	DEL	ENST00000344204.4	37	c.2143_2145delCAG	CCDS3883.1																																																																																				0.631	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		7	570						7	570	---	---	---	---	-	14358385	CAG	-	14358383	7	5	51	1	0	1	0	1	0	0	0	0	16605	595	21	0	2189	0	TRIO	5	14358383	In_Frame_Del	DEL	CAG	TCGA-FB-AAPZ-01A-11D-A40W-08	13517722	14358383	166556877	36	6284											
C5orf34	375444	broad.mit.edu	37	chr5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagtagctgaagagtttcGaaaatctagggctcgctgta	12	7	1	2	rs143336043	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.6_ENST00000512498.1_RNA|RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	75								p.R75*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289													G|||	2	0.000399361	0.0	0.0	5008	,	,		18001	0.001		0.001	False		,,,				2504	0.0					ENST00000306862.2																			1	Substitution - Nonsense(1)	p.R75*(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(223-225)Cga>Tga		chromosome 5 open reading frame 34		G	stop/ARG	0,4406		0,0,2203	84	99	94		223	3.3	1	5	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C5orf34	NM_198566.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/639	43508741	1,13005	2203	4300	6503	SO:0001587	stop_gained	375444							g.chr5:43508741G>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.223C>T	5.37:g.43508741G>A	ENSP00000303490:p.Arg75*					RP11-159F24.3_ENST00000505645.1_RNA	p.R75*	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			3	598	-	Lung NSC(6;2.07e-05)		75						Nonsense_Mutation	SNP	ENST00000306862.2	37	c.223C>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582089	0.97680	0.0	1.16E-4	ENSG00000172244	ENST00000306862	.	.	.	5.35	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7736	13.9037	0.63821	0.0:0.0:0.7113:0.2887	.	.	.	.	X	75	.	ENSP00000303490:R75X	R	-	1	2	C5orf34	43544498	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.350000	0.34010	1.184000	0.42957	0.655000	0.94253	CGA		0.289	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		179	306	0	0	0	1	0	179	306					A	43508741	G	A	43508741	4	1	51	1	0	0	0	0	0	1	0	0	2300	1066	37	1	1737	1	C5orf34	5	43508741	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	29150358	43508741	137406519	37	6285											
MEF2C	4208	broad.mit.edu	37	chr5	88027589	88027589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctggtggaataagaactCggagatctggtttacggtta	13	6	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:88027589C>T	ENST00000437473.2	-	7	1184	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000504921.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	256					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R256L(2)|p.R254L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATAAGAACTCGGAGATCTGG	0.378										HNSCC(66;0.2)																												ENST00000504921.2																			3	Substitution - Missense(3)	p.R256L(2)|p.R254L(1)	lung(3)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(766-768)cGa>cAa		myocyte enhancer factor 2C							112	106	108					5																	88027589		1843	4083	5926	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027589C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.767G>A	5.37:g.88027589C>T	ENSP00000396219:p.Arg256Gln	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000437473.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q	p.R256Q			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1439	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	256					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.767G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	37	6.088843	0.97271	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.998;0.974;0.999	T	0.67465	-0.5664	10	0.87932	D	0	-4.0687	20.5666	0.99351	0.0:1.0:0.0:0.0	.	254;274;256;256	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Q	274;254;256;256;256;256;256;256;256;208	ENSP00000340874:R274Q;ENSP00000389610:R254Q;ENSP00000421925:R256Q;ENSP00000426665:R256Q;ENSP00000396219:R256Q;ENSP00000422390:R256Q;ENSP00000425636:R256Q;ENSP00000423597:R256Q;ENSP00000424606:R256Q;ENSP00000441153:R208Q	ENSP00000340874:R274Q	R	-	2	0	MEF2C	88063345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	CGA		0.378	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		88	144	0	0	0	1	0	88	144					T	88027589	C	T	88027589	3	4	51	1	0	0	0	0	1	0	0	0	9498	884	31	1	674	1	MEF2C	5	88027589	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	44518848	88027589	92887671	38	6286											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039960	129039960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtggcaaaggcatacGtcatcggaccgttagatgta	12	8	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:129039960G>A	ENST00000274487.4	+	21	3315	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1057	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGGCATACGTCATCGGACC	0.423																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3169-3171)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							241	216	225					5																	129039960		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129039960G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3170G>A	5.37:g.129039960G>A	ENSP00000274487:p.Arg1057His					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.R1057H	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	21	3315	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1057			TSP type-1 4.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3170G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401303	0.25291	.	.	ENSG00000145808	ENST00000274487	T	0.57907	0.37	4.45	4.45	0.53987	.	0.078589	0.51477	D	0.000088	T	0.49864	0.1582	M	0.63169	1.94	0.50813	D	0.99989	B	0.30211	0.273	B	0.23275	0.045	T	0.49428	-0.8941	9	.	.	.	.	18.3946	0.90494	0.0:0.0:1.0:0.0	.	1057	Q8TE59	ATS19_HUMAN	H	1057	ENSP00000274487:R1057H	.	R	+	2	0	ADAMTS19	129067859	0.988000	0.35896	0.419000	0.26584	0.023000	0.10783	3.651000	0.54431	2.758000	0.94735	0.655000	0.94253	CGT		0.423	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		46	687	0	0	0	1	0	46	687					A	129039960	G	A	129039960	3	1	51	1	0	0	0	0	1	0	0	0	264	1145	40	1	3252	1	ADAMTS19	5	129039960	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	41012371	129039960	51875300	39	6287											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	532	1	0	2.27111e-07	1	2.41485e-07	7	532					T	140553994	G	T	140553994	2	4	51	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	11514034	140553994	40361266	40	6288											
KCTD16	57528	broad.mit.edu	37	chr5	143853641	143853641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgagagaaaacatccTtggcaatctgaacttttaag	7	8	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:143853641T>C	ENST00000507359.3	+	3	2342	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	KCTD16_ENST00000512467.1_Silent_p.P417P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	417					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAAAACATCCTTGGCAATCTG	0.378																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1249-1251)ccT>ccC		potassium channel tetramerization domain containing 16							48	56	54					5																	143853641		2191	4296	6487	SO:0001819	synonymous_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853641T>C	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1251T>C	5.37:g.143853641T>C						KCTD16_ENST00000512467.1_Silent_p.P417P	p.P417P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2342	+		all_hematologic(541;0.118)	417					Q9P2M9	Silent	SNP	ENST00000507359.3	37	c.1251T>C	CCDS34260.1																																																																																				0.378	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		169	329	0	0	0	1	0	169	329					C	143853641	T	C	143853641	2	2	51	1	0	0	0	0	0	0	0	1	8133	1596	56	4		4	KCTD16	5	143853641	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	3299647	143853641	37061619	41	6289											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		7	427						7	427	---	---	---	---	-	7393452	GAC	-	7393450	7	5	51	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-AAPZ-01A-11D-A40W-08		7393450	163721617	42	6290											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		10	921						10	921	---	---	---	---	-	33411203	CAC	-	33411201	7	5	51	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-FB-AAPZ-01A-11D-A40W-08	26017751	33411201	137703866	43	6291											
ENPP4	22875	broad.mit.edu	37	chr6	46108833	46108833	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaactgtagccctcatAtgaatgtttatctcaaagaa	6	7	2	3	rs201266533		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:46108833A>C	ENST00000321037.4	+	3	1101	c.871A>C	c.(871-873)Atg>Ctg	p.M291L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	291					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGCCCTCATATGAATGTTTA	0.323																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(871-873)Atg>Ctg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							61	59	60					6																	46108833		2202	4297	6499	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46108833A>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.871A>C	6.37:g.46108833A>C	ENSP00000318066:p.Met291Leu						p.M291L	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			3	1101	+			291					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.871A>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	9.051	0.992094	0.18966	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.74002	-0.8	6.16	0.723	0.18231	Alkaline-phosphatase-like, core domain (1);	0.189676	0.64402	N	0.000004	T	0.28830	0.0715	N	0.16307	0.4	0.49798	D	0.999825	B	0.11235	0.004	B	0.17979	0.02	T	0.38542	-0.9656	10	0.02654	T	1	-10.9395	9.624	0.39739	0.5348:0.3528:0.0:0.1124	.	291	Q9Y6X5	ENPP4_HUMAN	L	291	ENSP00000318066:M291L	ENSP00000318066:M291L	M	+	1	0	ENPP4	46216792	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	2.205000	0.42770	-0.084000	0.12595	0.528000	0.53228	ATG		0.323	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			136	303	0	0	0	1	0	136	303					C	46108833	A	C	46108833	3	2	51	1	0	0	0	0	1	0	0	0	5150	449	16	4	877	4	ENPP4	6	46108833	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	12697632	46108833	125006234	44	6292											
HEY2	23493	broad.mit.edu	37	chr6	126080635	126080635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccacgtttgcccatgCggattcagccctccgaatgc	10	16	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:126080635C>T	ENST00000368364.3	+	5	898	c.701C>T	c.(700-702)gCg>gTg	p.A234V	HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	234					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTTGCCCATGCGGATTCAGCC	0.647																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(700-702)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							174	159	164					6																	126080635		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080635C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.701C>T	6.37:g.126080635C>T	ENSP00000357348:p.Ala234Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	p.A234V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	898	+			234						Missense_Mutation	SNP	ENST00000368364.3	37	c.701C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194167	0.58017	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58797	0.31;0.31	4.95	4.95	0.65309	.	1.200460	0.05971	N	0.642316	T	0.34337	0.0894	L	0.29908	0.895	0.46376	D	0.999017	P	0.35011	0.48	B	0.26094	0.066	T	0.16276	-1.0408	10	0.30854	T	0.27	-28.093	18.3639	0.90384	0.0:1.0:0.0:0.0	.	234	Q9UBP5	HEY2_HUMAN	V	188;234	ENSP00000357349:A188V;ENSP00000357348:A234V	ENSP00000357348:A234V	A	+	2	0	HEY2	126122328	0.490000	0.26012	0.856000	0.33681	0.961000	0.63080	4.476000	0.60216	2.566000	0.86566	0.561000	0.74099	GCG		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			7	937	0	0	0	1	0	7	937					T	126080635	C	T	126080635	3	4	51	1	0	0	0	0	1	0	0	0	7109	768	27	1	719	1	HEY2	6	126080635	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	79971802	126080635	45034432	45	6293											
PEX7	5191	broad.mit.edu	37	chr6	137193340	137193340	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttttttttgtagttttCaccatttcatgcttctgtgc	5	8	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:137193340C>T	ENST00000318471.4	+	8	833	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	251					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTGTAGTTTTCACCATTTCAT	0.303																																						ENST00000318471.4																			0				lung(7)|prostate(1)	8						c.(751-753)tCa>tTa		peroxisomal biogenesis factor 7							116	121	120					6																	137193340		2202	4296	6498	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137193340C>T	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.752C>T	6.37:g.137193340C>T	ENSP00000315680:p.Ser251Leu					PEX7_ENST00000541292.1_3'UTR	p.S251L	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	8	833	+	Colorectal(23;0.24)		251					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.752C>T	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807831	0.50421	.	.	ENSG00000112357	ENST00000318471	T	0.65178	-0.14	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.127558	0.53938	D	0.000043	T	0.67702	0.2921	M	0.87758	2.905	0.80722	D	1	D	0.54964	0.969	P	0.46389	0.515	T	0.76637	-0.2886	10	0.87932	D	0	-19.2552	18.2383	0.89957	0.0:1.0:0.0:0.0	.	251	O00628	PEX7_HUMAN	L	251	ENSP00000315680:S251L	ENSP00000315680:S251L	S	+	2	0	PEX7	137235033	0.998000	0.40836	0.999000	0.59377	0.031000	0.12232	4.224000	0.58593	2.671000	0.90904	0.585000	0.79938	TCA		0.303	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		7	307	0	0	0	1	0	7	307					T	137193340	C	T	137193340	3	4	51	1	0	0	0	0	1	0	0	0	11793	838	29	2	782	2	PEX7	6	137193340	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	11112705	137193340	33921727	46	6294											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		6	357	0	0	0	1	0	6	357					A	150715311	G	A	150715311	3	1	51	1	0	0	0	0	1	0	0	0	7962	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	13521971	150715311	20399756	47	6295											
SEPT7	989	broad.mit.edu	37	chr7	35923505	35923505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactttgttttataggaccGtttacctcttgctgtggtag	9	7	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:35923505G>A	ENST00000435235.1	+	8	1001	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H|SEPT7_ENST00000494488.2_Missense_Mutation_p.R229H|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H			Q16181	SEPT7_HUMAN	septin 7	243	Septin-type G.				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)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTATAGGACCGTTTACCTCTT	0.358																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(685-687)cGt>cAt		septin 7							133	121	125					7																	35923505		1824	4077	5901	SO:0001583	missense	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.chr7:35923505G>A	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	ENST00000435235.1:c.569G>A	7.37:g.35923505G>A	ENSP00000413507:p.Arg190His					SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H|SEPT7_ENST00000435235.1_Missense_Mutation_p.R190H|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000432293.2_Intron	p.R229H			Q16181	SEPT7_HUMAN			8	686	+			243					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.686G>A		.	.	.	.	.	.	.	.	.	.	G	15.05	2.716738	0.48622	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T	0.79749	-1.3;1.4;1.4;1.4;1.4	4.88	4.88	0.63580	.	0.243404	0.30890	U	0.008678	T	0.72447	0.3461	L	0.37800	1.135	0.80722	D	1	B;B;B	0.16166	0.01;0.016;0.016	B;B;B	0.19391	0.024;0.025;0.025	T	0.67329	-0.5698	10	0.08599	T	0.76	.	18.4417	0.90669	0.0:0.0:1.0:0.0	.	188;242;243	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	H	190;244;242;242;188;190;229	ENSP00000413507:R190H;ENSP00000381992:R244H;ENSP00000344868:R242H;ENSP00000381993:R242H;ENSP00000438395:R229H	ENSP00000344868:R242H	R	+	2	0	SEPT7	35890030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.596000	0.82721	2.422000	0.82143	0.558000	0.71614	CGT		0.358	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		13	280	0	0	0	1	0	13	280					A	35923505	G	A	35923505	3	1	51	1	0	0	0	0	1	0	0	0	14119	1145	40	1	756	1	SEPT7	7	35923505	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		35923505	123215158	48	6296											
PKD1L1	168507	broad.mit.edu	37	chr7	47933504	47933504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccagggtcgtcagggtcGaaggactgggtccctctgag	16	12	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:47933504G>A	ENST00000289672.2	-	15	2474	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	808	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		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						CGTCAGGGTCGAAGGACTGGG	0.617																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(2422-2424)ttC>ttT		polycystic kidney disease 1 like 1							60	44	50					7																	47933504		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47933504G>A	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.2424C>T	7.37:g.47933504G>A							p.F808F	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2474	-			808			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.2424C>T	CCDS34633.1																																																																																				0.617	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		56	88	0	0	0	1	0	56	88					A	47933504	G	A	47933504	2	1	51	1	0	0	0	0	0	0	0	1	12006	1049	37	1		1	PKD1L1	7	47933504	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	12009999	47933504	111205159	49	6297											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	21	6	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80	82	81					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000437307.2_Intron	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		6	682	0	0	0	1	0	6	682					T	56142409	C	T	56142409	3	4	51	1	0	0	0	0	1	0	0	0	15438	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	8208905	56142409	102996254	50	6298											
COL1A2	1278	broad.mit.edu	37	chr7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactctagggtgatcctgGcaaaaacggtgataaaggtc	11	7	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1513-1515)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						278	248	258					7																	94042405		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94042405G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1514G>A	7.37:g.94042405G>A	ENSP00000297268:p.Gly505Asp	HNSCC(75;0.22)					p.G505D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		26	1985	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		505					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1514G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743563	0.69418	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96962	0.9702	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	505	P08123	CO1A2_HUMAN	D	505;506	ENSP00000297268:G505D	ENSP00000297268:G505D	G	+	2	0	COL1A2	93880341	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.817000	0.99352	2.861000	0.98227	0.655000	0.94253	GGC		0.398	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	502	0	0	0	1	0	5	502					A	94042405	G	A	94042405	3	1	51	1	0	0	0	0	1	0	0	0	3687	1203	42	2	1616	2	COL1A2	7	94042405	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	37899996	94042405	65096258	51	6299											
FOXD4	2298	broad.mit.edu	37	chr9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA													ctgctggctcgccgcctcctINScctcgtcttcatcttcctcc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gag>gTGGAAGACGAGGag	p.38_39insVEDE		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCTCCTCCTCGTCTTCA	0.668																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(115-117)gga>TGGAAGACGAGGgga		forkhead box D4																																				SO:0001652	inframe_insertion	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118004_118005insCCTCGTCTTCCA	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.115_116insTGGAAGACGAGG	9.37:g.118004_118005insCCTCGTCTTCCA	ENSP00000371940:p.Glu38_Glu39insValGluAspGlu						p.38_39insWKTR	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	412_413	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	38					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Ins	INS	ENST00000382500.2	37	c.115_116insTGGAAGACGAGG	CCDS34975.1																																																																																				0.668	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		15	348						15	348	---	---	---	---	CCTCGTCTTCCA	118005	-	CCTCGTCTTCCA	118004	7	5	51	1	0	1	1	0	0	0	0	0	6024	1551	54	0	1207	0	FOXD4	9	118004	In_Frame_Ins	INS	-	TCGA-FB-AAPZ-01A-11D-A40W-08		118004	141095427	52	6300											
FLJ46321	389763	broad.mit.edu	37	chr9	84606551	84606551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcattcttctgaggcctTtttaggggggcactctgtgg	12	10	4	1	rs376549982		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:84606551T>C	ENST00000344803.2	+	4	1213	c.1166T>C	c.(1165-1167)tTt>tCt	p.F389S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	389					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGAGGCCTTTTTAGGGGGG	0.473																																						ENST00000344803.2																			0											c.(1165-1167)tTt>tCt		SPATA31 subfamily D, member 1							109	96	100					9																	84606551		1844	4089	5933	SO:0001583	missense	389763							g.chr9:84606551T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1166T>C	9.37:g.84606551T>C	ENSP00000341988:p.Phe389Ser						p.F389S	NM_001001670.2	NP_001001670.1					4	1213	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1166T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.591898	0.00864	.	.	ENSG00000214929	ENST00000344803	T	0.04156	3.69	2.87	-2.57	0.06248	.	2.194420	0.02232	N	0.064965	T	0.01353	0.0044	N	0.00313	-1.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	10	0.19590	T	0.45	-2.0064	4.1319	0.10152	0.1638:0.4916:0.0:0.3445	.	389	Q6ZQQ2	F75D1_HUMAN	S	389	ENSP00000341988:F389S	ENSP00000341988:F389S	F	+	2	0	FAM75D1	83796371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.302000	0.08221	-0.612000	0.05701	-0.734000	0.03567	TTT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	269	0	0	0	1	0	7	269					C	84606551	T	C	84606551	3	2	51	1	0	0	0	0	1	0	0	0	5957	1841	64	4	1180	4	FLJ46321	9	84606551	Missense_Mutation	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	84488547	84606551	56606880	53	6301											
ALDOB	229	broad.mit.edu	37	chr9	104187206	104187206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccagtgcactggcctgCagggcccgtccataagagaa	13	13	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:104187206C>T	ENST00000374855.4	-	8	1042	c.918G>A	c.(916-918)ctG>ctA	p.L306L	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	306					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CACTGGCCTGCAGGGCCCGTC	0.552																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(916-918)ctG>ctA		aldolase B, fructose-bisphosphate							81	80	81					9																	104187206		2203	4300	6503	SO:0001819	synonymous_variant	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187206C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.918G>A	9.37:g.104187206C>T							p.L306L	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			8	1042	-		Acute lymphoblastic leukemia(62;0.0559)	306					Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	c.918G>A	CCDS6756.1																																																																																				0.552	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			6	422	0	0	0	1	0	6	422					T	104187206	C	T	104187206	2	4	51	1	0	0	0	0	0	0	0	1	508	697	25	2		2	ALDOB	9	104187206	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	19580655	104187206	37026225	54	6302											
PIK3AP1	118788	broad.mit.edu	37	chr10	98388169	98388169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaccttctaaaaacttgCggatcatagagtccttagtg	7	9	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:98388169C>T	ENST00000339364.5	-	9	1576	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H|PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	486					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TAAAAACTTGCGGATCATAGA	0.448																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1456-1458)cGc>cAc		phosphoinositide-3-kinase adaptor protein 1							162	165	164					10																	98388169		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98388169C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1457G>A	10.37:g.98388169C>T	ENSP00000339826:p.Arg486His					PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H|PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H	p.R486H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	9	1576	-		Colorectal(252;0.0442)	486					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1457G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905704	0.92107	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.40756	2.7;2.02;1.02	5.55	5.55	0.83447	.	0.126173	0.56097	D	0.000029	T	0.62356	0.2421	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56878	-0.7906	10	0.37606	T	0.19	-18.5849	18.856	0.92252	0.0:1.0:0.0:0.0	.	486;85	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	H	486;308;85	ENSP00000339826:R486H;ENSP00000360151:R308H;ENSP00000360150:R85H	ENSP00000339826:R486H	R	-	2	0	PIK3AP1	98378159	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.935000	0.63498	2.753000	0.94483	0.655000	0.94253	CGC		0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		6	874	0	0	0	1	0	6	874					T	98388169	C	T	98388169	3	4	51	1	0	0	0	0	1	0	0	0	11950	768	27	1	996	1	PIK3AP1	10	98388169	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		98388169	37146578	55	6303											
HTRA1	5654	broad.mit.edu	37	chr10	124266340	124266340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccacccagcgaggcgGcaaagagctggggctccgca	15	14	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:124266340G>A	ENST00000368984.3	+	4	1039	c.911G>A	c.(910-912)gGc>gAc	p.G304D		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	304	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAGCGAGGCGGCAAAGAGCTG	0.617																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(910-912)gGc>gAc		HtrA serine peptidase 1							81	65	70					10																	124266340		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124266340G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.911G>A	10.37:g.124266340G>A	ENSP00000357980:p.Gly304Asp						p.G304D	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			4	1039	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	304			Serine protease.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.911G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241471	0.95272	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.88201	-2.35;-2.34	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92821	0.6272	10	0.87932	D	0	-14.1768	18.8615	0.92273	0.0:0.0:1.0:0.0	.	304	Q92743	HTRA1_HUMAN	D	304;271;45	ENSP00000357980:G304D;ENSP00000412676:G45D	ENSP00000357980:G304D	G	+	2	0	HTRA1	124256330	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.613000	0.98350	2.456000	0.83038	0.655000	0.94253	GGC		0.617	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		6	286	0	0	0	1	0	6	286					A	124266340	G	A	124266340	3	1	51	1	0	0	0	0	1	0	0	0	7483	1203	42	2	925	2	HTRA1	10	124266340	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	25878171	124266340	11268407	56	6304											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292	278	283					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	1183	0	0	0	1	0	7	1183					A	129906577	G	A	129906577	3	1	51	1	0	0	0	0	1	0	0	0	9639	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	5640237	129906577	5628170	57	6305											
MUC5B	727897	broad.mit.edu	37	chr11	1268736	1268736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggaccacagccacAgccacacccagcaagacccg	7	20	0	1	rs71469870		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:1268736A>G	ENST00000529681.1	+	31	10684	c.10626A>G	c.(10624-10626)acA>acG	p.T3542T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3545T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		CCACAGCCACAGCCACACCCA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10633-10635)acA>acG		mucin 5B, oligomeric mucus/gel-forming							71	107	95					11																	1268736		2093	4209	6302	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268736A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10626A>G	11.37:g.1268736A>G						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T	p.T3545T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10693	+		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)	3542	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10635A>G	CCDS44515.2																																																																																				0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	524	0	0	0	1	0	5	524					G	1268736	A	G	1268736	2	3	51	1	0	0	0	0	0	0	0	1	10020	175	7	4		4	MUC5B	11	1268736	Silent	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08		1268736	133737780	58	6306											
GLYAT	10249	broad.mit.edu	37	chr11	58477299	58477299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggaacatgttgcagtgtGtaactcattttttgcatagc	10	6	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:58477299G>T	ENST00000344743.3	-	6	972	c.831C>A	c.(829-831)taC>taA	p.Y277*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	277					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTTGCAGTGTGTAACTCATTT	0.463																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(829-831)taC>taA		glycine-N-acyltransferase	Glycine(DB00145)						125	118	120					11																	58477299		2201	4295	6496	SO:0001587	stop_gained	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477299G>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.831C>A	11.37:g.58477299G>T	ENSP00000340200:p.Tyr277*					GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277*	p.Y277*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			6	972	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	277					O14833|Q96QK7	Nonsense_Mutation	SNP	ENST00000344743.3	37	c.831C>A	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064053	0.36373	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	.	.	.	6.06	-0.557	0.11800	.	2.072040	0.02028	N	0.048337	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6363	1.6509	0.02771	0.2466:0.3236:0.3044:0.1255	.	.	.	.	X	277	.	ENSP00000340200:Y277X	Y	-	3	2	GLYAT	58233875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.083000	0.11286	-0.048000	0.13401	-0.912000	0.02778	TAC		0.463	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			5	243	1	0	0.0215528	1	0.0216818	5	243					T	58477299	G	T	58477299	4	4	51	1	0	0	0	0	0	1	0	0	6508	1372	48	3	63	3	GLYAT	11	58477299	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	57208563	58477299	76529217	59	6307											
KDM2A	22992	broad.mit.edu	37	chr11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-													tggggggagaggaggaggaaGaggaggaggaggaggaggaa							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		9	118						9	118	---	---	---	---	-	67018081	GAG	-	67018079	7	5	51	1	0	1	0	1	0	0	0	0	8154	943	33	0	2640	0	KDM2A	11	67018079	In_Frame_Del	DEL	GAG	TCGA-FB-AAPZ-01A-11D-A40W-08	8540780	67018079	67988437	60	6308											
ANO1	55107	broad.mit.edu	37	chr11	69978186	69978186	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatggccctctgggGtaagcagggctccagagcac	13	12	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:69978186G>A	ENST00000355303.5	+	11	1563		c.e11+1		ANO1_ENST00000398543.2_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000531349.1_Splice_Site|ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000538023.1_Splice_Site	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GCCCTCTGGGGTAAGCAGGGC	0.597																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.e11+1		anoctamin 1, calcium activated chloride channel							20	24	23					11																	69978186		2043	4190	6233	SO:0001630	splice_region_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69978186G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1258+1G>A	11.37:g.69978186G>A						ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000538023.1_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000531349.1_Splice_Site		NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			11	1563	+								A8KAM3|Q8IYY8|Q8N7V3	Splice_Site	SNP	ENST00000355303.5	37		CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981281	0.74474	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	.	.	.	4.77	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3645	0.66795	0.0:0.0:0.8509:0.1491	.	.	.	.	.	-1	.	.	.	+	.	.	ANO1	69655834	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.683000	0.84093	0.995000	0.38917	0.555000	0.69702	.		0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	Intron	19	54	0	0	0	1	0	19	54					A	69978186	G	A	69978186	5	1	51	1	0	0	0	0	0	0	1	0	695	1275	44	2	1301	2	ANO1	11	69978186	Splice_Site	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	2960107	69978186	65028330	61	6309											
MRPL48	51642	broad.mit.edu	37	chr11	73555855	73555857	+	In_Frame_Del	DEL	AAG	AAG	-													ctttgttttctcttcagcccAagaagaagaagggaaaagtg							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:73555855_73555857delAAG	ENST00000310614.7	+	5	861_863	c.205_207delAAG	c.(205-207)aagdel	p.K72del	MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000535529.1_In_Frame_Del_p.K54del	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	72	Poly-Lys.					mitochondrial ribosome (GO:0005761)				kidney(1)	1						TCTTCAGCCCAAGAAGAAGAAGG	0.305																																						ENST00000535529.1																			0				kidney(1)	1						c.(151-153)del		mitochondrial ribosomal protein L48				0,3496		0,0,1748						3.5	1			64	4,7800		0,4,3898	no	coding	MRPL48	NM_016055.5		0,4,5646	A1A1,A1R,RR		0.0513,0.0,0.0354				4,11296				SO:0001651	inframe_deletion	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555855_73555857delAAG	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.205_207delAAG	11.37:g.73555864_73555866delAAG	ENSP00000308717:p.Lys72del					MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_In_Frame_Del_p.K72del|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000398483.3_5'UTR	p.K54del			Q96GC5	RM48_HUMAN			6	363_365	+			72					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	In_Frame_Del	DEL	ENST00000310614.7	37	c.151_153delAAG	CCDS44676.1																																																																																				0.305	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		7	286						7	286	---	---	---	---	-	73555857	AAG	-	73555855	7	5	51	1	0	1	0	1	0	0	0	0	9853	131	5	0	223	0	MRPL48	11	73555855	In_Frame_Del	DEL	AAG	TCGA-FB-AAPZ-01A-11D-A40W-08	3577669	73555855	61450661	62	6310											
NTF3	4908	broad.mit.edu	37	chr12	5603793	5603793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcacggcggaaacGgtacgcggagcataagagtc	13	10	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:5603793G>A	ENST00000331010.6	+	1	496	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NTF3_ENST00000423158.3_Missense_Mutation_p.R151Q|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	138					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			1	Substitution - Missense(1)	p.R138Q(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(451-453)cGg>cAg		neurotrophin 3							90	85	87					12																	5603793		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603793G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.413G>A	12.37:g.5603793G>A	ENSP00000328738:p.Arg138Gln					NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R138Q	p.R151Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	664	+			138					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.452G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265075	0.80358	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.70516	-0.49;-0.49	5.52	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.89601	3.045	0.47214	D	0.999355	P;D	0.54601	0.892;0.967	B;B	0.35859	0.212;0.212	T	0.76143	-0.3067	10	0.87932	D	0	-11.5385	11.2247	0.48877	0.1475:0.0:0.8525:0.0	.	138;151	P20783;B7Z1T5	NTF3_HUMAN;.	Q	151;138	ENSP00000397297:R151Q;ENSP00000328738:R138Q	ENSP00000328738:R138Q	R	+	2	0	NTF3	5474054	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.869000	0.99810	0.724000	0.32296	0.591000	0.81541	CGG		0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			222	285	0	0	0	1	0	222	285					A	5603793	G	A	5603793	3	1	51	1	0	0	0	0	1	0	0	0	10738	1116	39	1	458	1	NTF3	12	5603793	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		5603793	128248102	63	6311											
VWF	7450	broad.mit.edu	37	chr12	6105363	6105363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaaggtcacgatgtgCcgagtggagctgcctgtgca	13	11	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:6105363C>T	ENST00000261405.5	-	35	6122	c.5868G>A	c.(5866-5868)cgG>cgA	p.R1956R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1956	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACGATGTGCCGAGTGGAGC	0.522																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5866-5868)cgG>cgA		von Willebrand factor	Antihemophilic Factor(DB00025)						44	40	41					12																	6105363		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6105363C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5868G>A	12.37:g.6105363C>T							p.R1956R	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			35	6122	-			1956			VWFD 4.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5868G>A	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	160	0	0	0	1	0	4	160					T	6105363	C	T	6105363	2	4	51	1	0	0	0	0	0	0	0	1	17300	726	26	2		2	VWF	12	6105363	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	501570	6105363	127746532	64	6312											
CLEC1B	51266	broad.mit.edu	37	chr12	10147796	10147796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacctcattcgacttctggCgagataatccgacccaacga	8	13	2	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:10147796C>A	ENST00000298527.6	-	5	667	c.488G>T	c.(487-489)cGc>cTc	p.R163L	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R130L|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CGACTTCTGGCGAGATAATCC	0.433																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(388-390)cGc>cTc		C-type lectin domain family 1, member B							275	267	270					12																	10147796		1871	4091	5962	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10147796C>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.488G>T	12.37:g.10147796C>A	ENSP00000298527:p.Arg163Leu					CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R163L	p.R130L			Q9P126	CLC1B_HUMAN			6	658	-			163			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.389G>T	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236215	0.58886	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	3.83	3.83	0.44106	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.49305	D	0.000156	T	0.42539	0.1207	M	0.80332	2.49	0.44268	D	0.997128	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	T	0.39583	-0.9607	10	0.13853	T	0.58	.	11.1397	0.48396	0.0:1.0:0.0:0.0	.	130;163	Q9P126-2;Q9P126	.;CLC1B_HUMAN	L	70;130;163;130;70	ENSP00000381910:R70L;ENSP00000406338:R130L;ENSP00000298527:R163L;ENSP00000327169:R130L	ENSP00000298527:R163L	R	-	2	0	CLEC1B	10039063	0.991000	0.36638	0.902000	0.35471	0.685000	0.39939	2.087000	0.41653	1.954000	0.56735	0.298000	0.19748	CGC		0.433	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		92	1986	1	0	1.47197e-15	1	1.61628e-15	92	1986					A	10147796	C	A	10147796	3	1	51	1	0	0	0	0	1	0	0	0	3515	768	27	3	209	3	CLEC1B	12	10147796	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	4042433	10147796	123704099	65	6313											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		79	152	0	0	0	1	0	79	152					G	25398285	C	G	25398285	3	3	51	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	15250489	25398285	108453610	66	6314											
ABCD2	225	broad.mit.edu	37	chr12	40012541	40012541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctcgagtgcacataccGcaaatagccttttctatgtg	7	10	2	0	rs373640731		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:40012541G>A	ENST00000308666.3	-	1	1012	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	293	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCACATACCGCAAATAGCCT	0.413																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(877-879)Cgg>Tgg		ATP-binding cassette, sub-family D (ALD), member 2		G	TRP/ARG	0,4406		0,0,2203	121	117	118		877	5.5	1	12		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCD2	NM_005164.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/741	40012541	1,13005	2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012541G>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.877C>T	12.37:g.40012541G>A	ENSP00000310688:p.Arg293Trp						p.R293W	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	1012	-			293			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.877C>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859562	0.71834	0.0	1.16E-4	ENSG00000173208	ENST00000308666	D	0.99907	-7.8	5.52	5.52	0.82312	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.058987	0.64402	D	0.000002	D	0.99939	0.9973	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96110	0.9076	9	.	.	.	-8.5259	19.4311	0.94768	0.0:0.0:1.0:0.0	.	293	Q9UBJ2	ABCD2_HUMAN	W	293	ENSP00000310688:R293W	.	R	-	1	2	ABCD2	38298808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.330000	0.79181	2.590000	0.87494	0.563000	0.77884	CGG		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		6	596	0	0	0	1	0	6	596					A	40012541	G	A	40012541	3	1	51	1	0	0	0	0	1	0	0	0	61	1086	38	1	1385	1	ABCD2	12	40012541	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	14614256	40012541	93839354	67	6315											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	930						7	930	---	---	---	---	-	55615116	CTT	-	55615114	7	5	51	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-FB-AAPZ-01A-11D-A40W-08	15602573	55615114	78236781	68	6316											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-													cctccgtgtcgccctcgctgTcctcctcctcctcctctggc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	348						12	348	---	---	---	---	-	111758237	TCC	-	111758235	7	5	51	1	0	1	0	1	0	0	0	0	4076	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-FB-AAPZ-01A-11D-A40W-08	56143121	111758235	22093660	69	6317											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		8	751						8	751	---	---	---	---	-	121017156	CTC	-	121017154	7	5	51	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-FB-AAPZ-01A-11D-A40W-08	9258919	121017154	12834741	70	6318											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	389						7	389	---	---	---	---	-	20426145	CAT	-	20426143	7	5	51	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-FB-AAPZ-01A-11D-A40W-08		20426143	94743735	71	6319											
SKA3	221150	broad.mit.edu	37	chr13	21742393	21742393	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccgctcaagtccaaaatcTgaaagttgtggactacgtgg	10	9	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:21742393T>A	ENST00000314759.5	-	4	601	c.477A>T	c.(475-477)tcA>tcT	p.S159S	SKA3_ENST00000400018.3_Silent_p.S159S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	159					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCCAAAATCTGAAAGTTGTG	0.438																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(475-477)tcA>tcT		spindle and kinetochore associated complex subunit 3							126	130	128					13																	21742393		2203	4300	6503	SO:0001819	synonymous_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742393T>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.477A>T	13.37:g.21742393T>A						SKA3_ENST00000400018.3_Silent_p.S159S	p.S159S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			4	601	-			159					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	ENST00000314759.5	37	c.477A>T	CCDS31946.1																																																																																				0.438	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		5	575	0	0	0	1	0	5	575					A	21742393	T	A	21742393	2	1	51	1	0	0	0	0	0	0	0	1	14404	1567	55	5		5	SKA3	13	21742393	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	1316250	21742393	93427485	72	6320											
C13orf37	440145	broad.mit.edu	37	chr13	73293170	73293170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccttgttcacaaagccGtacacaaatagacagagttt	6	9	1	2	rs369419420		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:73293170G>A	ENST00000377818.3	-	2	229	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	49					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCACAAAGCCGTACACAAATA	0.353																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(145-147)Cgg>Tgg		mitotic spindle organizing protein 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	99	103	102		145	5.7	1	13		102	0,8600		0,0,4300	no	missense	MZT1	NM_001071775.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	49/83	73293170	1,13005	2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293170G>A		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"	613448	"chromosome 13 open reading frame 37"	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.145C>T	13.37:g.73293170G>A	ENSP00000367049:p.Arg49Trp						p.R49W	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	229	-			49					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.145C>T	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997302	0.74818	2.27E-4	0.0	ENSG00000204899	ENST00000377818	T	0.48836	0.8	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.71076	-0.4697	9	0.66056	D	0.02	-7.8554	13.3206	0.60430	0.0:0.0:0.7239:0.2761	.	49	Q08AG7	MZT1_HUMAN	W	49	ENSP00000367049:R49W	ENSP00000367049:R49W	R	-	1	2	MZT1	72191171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.846000	0.55888	2.692000	0.91855	0.591000	0.81541	CGG		0.353	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		7	852	0	0	0	1	0	7	852					A	73293170	G	A	73293170	3	1	51	1	0	0	0	0	1	0	0	0	1736	1144	40	1	111	1	C13orf37	13	73293170	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	51550777	73293170	41876708	73	6321											
OR4Q3	441669	broad.mit.edu	37	chr14	20215715	20215715	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctattgtcctgggaaacctCttgatagtggtaacagtgca	11	8	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:20215715C>A	ENST00000331723.1	+	1	129	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGAAACCTCTTGATAGTGG	0.408																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(127-129)ctC>ctA		olfactory receptor, family 4, subfamily Q, member 3							200	204	203					14																	20215715		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215715C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.129C>A	14.37:g.20215715C>A							p.L43L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	129	+	all_cancers(95;0.00108)		43					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.129C>A	CCDS32020.1																																																																																				0.408	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			436	435	1	0	1.03157e-228	1	1.17097e-228	436	435					A	20215715	C	A	20215715	2	1	51	1	0	0	0	0	0	0	0	1	11123	900	32	3		3	OR4Q3	14	20215715	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		20215715	87133825	74	6322											
OR4M1	441670	broad.mit.edu	37	chr14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-													ctggtggctctctcctggatGgggggcttcattcattctat							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:20248931delG	ENST00000315957.4	+	1	531	c.450delG	c.(448-450)atgfs	p.M150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTGGATGGGGGGCTTCA	0.502																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(448-450)atfs		olfactory receptor, family 4, subfamily M, member 1							246	258	254					14																	20248931		2203	4300	6503	SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248931delG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.450delG	14.37:g.20248931delG	ENSP00000319654:p.Met150fs						p.M150fs	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	531	+	all_cancers(95;0.00108)		150					B9EH18|Q6IFA3	Frame_Shift_Del	DEL	ENST00000315957.4	37	c.450delG	CCDS32021.1																																																																																				0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			7	1110						7	1110	---	---	---	---	-	20248931	G	-	20248931	7	5	51	1	0	1	0	1	0	0	0	0	11117	1348	47	0	452	0	OR4M1	14	20248931	Frame_Shift_Del	DEL	G	TCGA-FB-AAPZ-01A-11D-A40W-08	33216	20248931	87100609	75	6323											
SYNE2	23224	broad.mit.edu	37	chr14	64681074	64681074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcacgagcggtctggctgcGagacccctgtcagcgtggac	16	13	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:64681074G>A	ENST00000344113.4	+	106	19431	c.19219G>A	c.(19219-19221)Gag>Aag	p.E6407K	SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2792K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6407					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTCTGGCTGCGAGACCCCTGT	0.632																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8374-8376)Gag>Aag		spectrin repeat containing, nuclear envelope 2							90	87	88					14																	64681074		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64681074G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19219G>A	14.37:g.64681074G>A	ENSP00000341781:p.Glu6407Lys					SYNE2_ENST00000344113.4_Missense_Mutation_p.E6407K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K	p.E2792K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	107	19518	+			6407					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8374G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923682	0.73213	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.65549	0.24;3.64;0.23;-0.16;3.64;3.64;3.47;2.98;2.5	5.27	5.27	0.74061	.	0.000000	0.50627	D	0.000114	T	0.78220	0.4249	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.991;0.999;0.973;0.989;0.975;0.997	T	0.79374	-0.1830	10	0.72032	D	0.01	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	41;2792;41;795;6349;6407;6407	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	K	6407;2792;6407;6349;6355;3041;2792;285;190;41	ENSP00000350719:E6407K;ENSP00000349969:E2792K;ENSP00000341781:E6407K;ENSP00000452570:E6349K;ENSP00000450831:E3041K;ENSP00000378249:E2792K;ENSP00000451009:E285K;ENSP00000450605:E190K;ENSP00000391937:E41K	ENSP00000261678:E6355K	E	+	1	0	SYNE2	63750827	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.411000	0.97342	2.735000	0.93741	0.655000	0.94253	GAG		0.632	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		214	227	0	0	0	1	0	214	227					A	64681074	G	A	64681074	3	1	51	1	0	0	0	0	1	0	0	0	15498	1059	37	1	19637	1	SYNE2	14	64681074	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	44432143	64681074	42668466	76	6324											
ESR2	2100	broad.mit.edu	37	chr14	64746715	64746715	+	Frame_Shift_Del	DEL	A	A	-													gtaccttgaatgcttcttttAaaaaaggccttacatccttc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:64746715delA	ENST00000341099.4	-	3	936	c.519delT	c.(517-519)tttfs	p.F173fs	ESR2_ENST00000358599.5_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000557772.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555278.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000357782.2_Frame_Shift_Del_p.F173fs|ESR2_ENST00000553796.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000353772.3_Frame_Shift_Del_p.F173fs|ESR2_ENST00000542956.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000554572.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000267525.6_Frame_Shift_Del_p.F173fs	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	173					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGCTTCTTTTAAAAAAGGCCT	0.413																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(517-519)ttfs		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						198	203	201					14																	64746715		2203	4300	6503	SO:0001589	frameshift_variant	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64746715delA	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.519delT	14.37:g.64746715delA	ENSP00000343925:p.Phe173fs					ESR2_ENST00000357782.2_Frame_Shift_Del_p.F173fs|ESR2_ENST00000542956.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000358599.5_Frame_Shift_Del_p.F173fs|ESR2_ENST00000553796.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000353772.3_Frame_Shift_Del_p.F173fs|ESR2_ENST00000554572.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555278.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000341099.4_Frame_Shift_Del_p.F173fs|ESR2_ENST00000267525.6_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555483.1_Intron	p.F173fs	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	2	518	-			173					A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Frame_Shift_Del	DEL	ENST00000341099.4	37	c.519delT	CCDS9762.1																																																																																				0.413	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			8	1537						8	1537	---	---	---	---	-	64746715	A	-	64746715	7	5	51	1	0	1	0	1	0	0	0	0	5275	359	13	0	1187	0	ESR2	14	64746715	Frame_Shift_Del	DEL	A	TCGA-FB-AAPZ-01A-11D-A40W-08	65641	64746715	42602825	77	6325											
NRXN3	9369	broad.mit.edu	37	chr14	79175640	79175640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagatgaaaatctatggCgaagttgtgtttaagtgtga	11	4	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:79175640C>T	ENST00000554719.1	+	4	674	c.183C>T	c.(181-183)ggC>ggT	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.G61G(2)		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)		AAATCTATGGCGAAGTTGTGT	0.468																																						ENST00000554719.1																			2	Substitution - coding silent(2)	p.G61G(2)	large_intestine(1)|lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(181-183)ggC>ggT		neurexin 3							102	99	100					14																	79175640		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175640C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.183C>T	14.37:g.79175640C>T						RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.G61G	p.G61G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	674	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.183C>T	CCDS9870.1																																																																																				0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		209	200	0	0	0	1	0	209	200					T	79175640	C	T	79175640	2	4	51	1	0	0	0	0	0	0	0	1	10709	755	27	1		1	NRXN3	14	79175640	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	14428925	79175640	28173900	78	6326											
BEGAIN	57596	broad.mit.edu	37	chr14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtccccgtcccccccctCgctgggtgcatagccgggca	11	20	0	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:101004539C>T	ENST00000355173.2	-	7	1620	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000556751.1_Missense_Mutation_p.E453K	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	517						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCCCCCCCTCGCTGGGTGCA	0.731																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1357-1359)Gag>Aag		brain-enriched guanylate kinase-associated							5	6	5					14																	101004539		2064	4066	6130	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004539C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1549G>A	14.37:g.101004539C>T	ENSP00000347301:p.Glu517Lys					BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E517K	p.E453K			Q9BUH8	BEGIN_HUMAN			5	4761	-		Melanoma(154;0.212)	517					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1357G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.875165	0.33162	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.72	3.83	0.44106	.	0.564050	0.18819	N	0.130300	T	0.56031	0.1958	L	0.54323	1.7	0.42735	D	0.993725	B	0.28971	0.229	B	0.24269	0.052	T	0.52238	-0.8602	9	0.28530	T	0.3	.	14.6592	0.68858	0.0:0.8449:0.1551:0.0	.	517	Q9BUH8	BEGIN_HUMAN	K	517;453;517	.	ENSP00000347301:E517K	E	-	1	0	BEGAIN	100074292	1.000000	0.71417	0.893000	0.35052	0.164000	0.22412	3.288000	0.51739	0.948000	0.37687	0.450000	0.29827	GAG		0.731	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		20	18	0	0	0	1	0	20	18					T	101004539	C	T	101004539	3	4	51	1	0	0	0	0	1	0	0	0	1398	893	31	1	236	1	BEGAIN	14	101004539	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	21828899	101004539	6345001	79	6327											
ATP10A	57194	broad.mit.edu	37	chr15	25924552	25924552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcccttgaagtcctgatCggcctgagtggggctggaca	15	11	0	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:25924552C>T	ENST00000356865.6	-	21	4547	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1479					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGTCCTGATCGGCCTGAGTG	0.512																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4435-4437)cGa>cAa		ATPase, class V, type 10A							55	60	58					15																	25924552		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924552C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4436G>A	15.37:g.25924552C>T	ENSP00000349325:p.Arg1479Gln						p.R1479Q	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4547	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1479					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4436G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318296	0.23994	.	.	ENSG00000206190	ENST00000356865	T	0.10382	2.88	5.12	3.19	0.36642	.	6.590700	0.00166	N	0.000007	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.28011	0.085	T	0.32955	-0.9887	10	0.25751	T	0.34	11.1915	6.8241	0.23872	0.0:0.7845:0.0:0.2155	.	1479	O60312	AT10A_HUMAN	Q	1479	ENSP00000349325:R1479Q	ENSP00000349325:R1479Q	R	-	2	0	ATP10A	23475645	0.021000	0.18746	0.001000	0.08648	0.005000	0.04900	0.520000	0.22878	0.688000	0.31529	0.655000	0.94253	CGA		0.512	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		19	269	0	0	0	1	0	19	269					T	25924552	C	T	25924552	3	4	51	1	0	0	0	0	1	0	0	0	1117	884	31	1	67	1	ATP10A	15	25924552	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		25924552	76606840	80	6328											
TMOD3	29766	broad.mit.edu	37	chr15	52161561	52161562	+	Frame_Shift_Ins	INS	-	-	A													ctatgtgccctacactggagINSaaaaaaaaggtaagccccag							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:52161561_52161562insA	ENST00000308580.7	+	3	555_556	c.274_275insA	c.(274-276)gaafs	p.E92fs	TMOD3_ENST00000544199.1_Frame_Shift_Ins_p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	92						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CTACACTGGAGAAAAAAAAGGT	0.391																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(274-276)aaafs		tropomodulin 3 (ubiquitous)				4,4260		0,4,2128						5.2	1			82	2,8252		0,2,4125	no	frameshift	TMOD3	NM_014547.4		0,6,6253	A1A1,A1R,RR		0.0242,0.0938,0.0479				6,12512				SO:0001589	frameshift_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161561_52161562insA	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.282dupA	15.37:g.52161569_52161569dupA	ENSP00000308753:p.Glu92fs					TMOD3_ENST00000544199.1_Frame_Shift_Ins_p.K92fs	p.K92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	555_556	+			92					B2R6G7|Q9NT43|Q9NZR0	Frame_Shift_Ins	INS	ENST00000308580.7	37	c.274_275insA	CCDS10145.1																																																																																				0.391	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			7	319						7	319	---	---	---	---	A	52161562	-	A	52161561	7	5	51	1	0	1	1	0	0	0	0	0	16287	943	33	0	280	0	TMOD3	15	52161561	Frame_Shift_Ins	INS	-	TCGA-FB-AAPZ-01A-11D-A40W-08	26237009	52161561	50369831	81	6329											
FEM1B	10116	broad.mit.edu	37	chr15	68570843	68570843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcaaccggtctgaaAgcgacatccgctatctgctt	8	13	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:68570843A>G	ENST00000306917.4	+	1	703	c.88A>G	c.(88-90)Agc>Ggc	p.S30G	RP11-315D16.4_ENST00000563057.1_lincRNA	NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	30					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCGGTCTGAAAGCGACATCCG	0.632																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(88-90)Agc>Ggc		fem-1 homolog b (C. elegans)							67	62	64					15																	68570843		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68570843A>G		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.88A>G	15.37:g.68570843A>G	ENSP00000307298:p.Ser30Gly						p.S30G	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			1	703	+			30					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.88A>G	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041286	0.35989	.	.	ENSG00000169018	ENST00000306917	T	0.53640	0.61	4.29	4.29	0.51040	Ankyrin repeat-containing domain (1);	0.316936	0.33854	N	0.004490	T	0.24736	0.0600	N	0.08118	0	0.27961	N	0.936787	B	0.15473	0.013	B	0.14023	0.01	T	0.11203	-1.0597	10	0.23302	T	0.38	-27.3124	8.8849	0.35398	0.8112:0.1887:0.0:0.0	.	30	Q9UK73	FEM1B_HUMAN	G	30	ENSP00000307298:S30G	ENSP00000307298:S30G	S	+	1	0	FEM1B	66357897	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.542000	0.53625	1.812000	0.52913	0.454000	0.30748	AGC		0.632	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			124	61	0	0	0	1	0	124	61					G	68570843	A	G	68570843	3	3	51	1	0	0	0	0	1	0	0	0	5835	72	3	4	90	4	FEM1B	15	68570843	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	16409282	68570843	33960549	82	6330											
PDXDC1	23042	broad.mit.edu	37	chr16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcatttgcagagtcaaCggttgcaggaaagtttgaag	12	5	2	2	rs541688833		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGAGTCAACGGTTGCAGGA	0.368																																						ENST00000396410.4																			1	Substitution - Missense(1)	p.R366W(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cgg>Tgg		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						154	136	142					16																	15116567		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15116567C>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1096C>T	16.37:g.15116567C>T	ENSP00000379691:p.Arg366Trp					PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	p.R366W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			13	1193	+			366					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1096C>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292476	0.59976	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.96	1.5	0.22942	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.50922	0.1644	L	0.60455	1.87	0.29252	N	0.871901	D;D;D;D;D;D	0.71674	0.994;0.994;0.998;0.994;0.994;0.998	P;P;P;P;P;P	0.57776	0.614;0.724;0.719;0.724;0.614;0.827	T	0.51482	-0.8700	10	0.39692	T	0.17	-20.2729	12.2124	0.54388	0.7045:0.2955:0.0:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	W	351;275;366;366;338;72;343	ENSP00000322807:R351W;ENSP00000400310:R275W;ENSP00000437835:R366W;ENSP00000379691:R366W;ENSP00000391147:R338W;ENSP00000406703:R343W	ENSP00000322807:R351W	R	+	1	2	PDXDC1	15024068	0.814000	0.29104	0.092000	0.20876	0.975000	0.68041	1.446000	0.35090	0.452000	0.26830	0.478000	0.44815	CGG		0.368	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		5	213	0	0	0	1	0	5	213					T	15116567	C	T	15116567	3	4	51	1	0	0	0	0	1	0	0	0	11738	527	19	1	1146	1	PDXDC1	16	15116567	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		15116567	75238186	83	6331											
ACSM3	6296	broad.mit.edu	37	chr16	20781387	20781387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaccaggaagatgctaCgtcatgccaagtgttttcag	11	9	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:20781387C>T	ENST00000289416.5	+	2	506	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C|ACSM3_ENST00000450120.2_5'Flank	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	11					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAAGATGCTACGTCATGCCAA	0.438																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(31-33)Cgt>Tgt		acyl-CoA synthetase medium-chain family member 3							152	126	135					16																	20781387		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20781387C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.31C>T	16.37:g.20781387C>T	ENSP00000289416:p.Arg11Cys					ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C	p.R11C	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			2	506	+			11					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.31C>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	5.071	0.198692	0.09652	.	.	ENSG00000005187	ENST00000289416;ENST00000440284	T;T	0.44083	0.93;1.68	5.91	0.758	0.18432	.	0.674484	0.14670	N	0.305411	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16335	-1.0406	10	0.37606	T	0.19	-2.0692	8.0878	0.30782	0.0:0.5219:0.0:0.4781	.	11;11	Q53FZ2;Q53FZ2-2	ACSM3_HUMAN;.	C	11	ENSP00000289416:R11C;ENSP00000394565:R11C	ENSP00000289416:R11C	R	+	1	0	ACSM3	20688888	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.634000	0.24614	0.132000	0.18615	-0.137000	0.14449	CGT		0.438	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		171	111	0	0	0	1	0	171	111					T	20781387	C	T	20781387	3	4	51	1	0	0	0	0	1	0	0	0	185	536	19	1	33	1	ACSM3	16	20781387	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	5664820	20781387	69573366	84	6332											
CDIPT	10423	broad.mit.edu	37	chr16	29872467	29872467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggccacatccaaactcaTgctgatttggaagaacagcg	9	11	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:29872467T>C	ENST00000219789.6	-	3	1170	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000567459.1_5'Flank|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	98					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						TCCAAACTCATGCTGATTTGG	0.607																																						ENST00000219789.6																			0				endometrium(1)|lung(3)	4						c.(292-294)Atg>Gtg		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							83	67	73					16																	29872467		2197	4300	6497	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29872467T>C	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"phosphatidylinositol synthase"	605893	"CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.292A>G	16.37:g.29872467T>C	ENSP00000219789:p.Met98Val					CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V	p.M98V	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN			3	1170	-			98					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.292A>G	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156835	0.38119	.	.	ENSG00000103502	ENST00000219789;ENST00000403894	T	0.39056	1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	N	0.21142	0.635	0.58432	D	0.999994	B;B;P	0.50943	0.104;0.048;0.94	B;B;P	0.44946	0.051;0.086;0.465	T	0.05989	-1.0852	10	0.24483	T	0.36	-15.9386	14.0659	0.64828	0.0:0.0:0.0:1.0	.	53;98;122	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	V	98;151	ENSP00000219789:M98V	ENSP00000219789:M98V	M	-	1	0	CDIPT	29779968	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.797000	0.75150	2.220000	0.72140	0.533000	0.62120	ATG		0.607	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		78	99	0	0	0	1	0	78	99					C	29872467	T	C	29872467	3	2	51	1	0	0	0	0	1	0	0	0	3132	1464	51	4	365	4	CDIPT	16	29872467	Missense_Mutation	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	9091080	29872467	60482286	85	6333											
ZNF48	197407	broad.mit.edu	37	chr16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtgacagttctgcccGcatcaagcaccagcgtgggc	12	12	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCTGCCCGCATCAAGCAC	0.592																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1756-1758)cGc>cAc		zinc finger protein 48							105	108	107					16																	30410328		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410328G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1757G>A	16.37:g.30410328G>A	ENSP00000324056:p.Arg586His						p.R586H	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	2133	+			586					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1757G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709960	0.30322	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34507	N	0.003901	T	0.19765	0.0475	N	0.24115	0.695	0.27017	N	0.964547	B	0.26363	0.147	B	0.13407	0.009	T	0.14896	-1.0456	10	0.87932	D	0	-16.7957	10.3576	0.43974	0.0:0.0:0.8042:0.1958	.	586	Q96MX3	ZNF48_HUMAN	H	711;586	ENSP00000324056:R586H	ENSP00000324056:R586H	R	+	2	0	ZNF48	30317829	0.193000	0.23313	0.954000	0.39281	0.780000	0.44128	1.880000	0.39628	2.556000	0.86216	0.557000	0.71058	CGC		0.592	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		6	568	0	0	0	1	0	6	568					A	30410328	G	A	30410328	3	1	51	1	0	0	0	0	1	0	0	0	17987	1087	38	1	1763	1	ZNF48	16	30410328	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	537861	30410328	59944425	86	6334											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327045	77327045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcacacagccctcctgCagctcaggtctggggagact	11	15	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:77327045C>T	ENST00000282849.5	-	20	3535	c.3117G>A	c.(3115-3117)ctG>ctA	p.L1039L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1039	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCCTCCTGCAGCTCAGGTC	0.607																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3115-3117)ctG>ctA		ADAM metallopeptidase with thrombospondin type 1 motif, 18							85	81	82					16																	77327045		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327045C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3117G>A	16.37:g.77327045C>T							p.L1039L	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			20	3535	-			1039			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3117G>A	CCDS10926.1																																																																																				0.607	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			154	287	0	0	0	1	0	154	287					T	77327045	C	T	77327045	2	4	51	1	0	0	0	0	0	0	0	1	263	697	25	2		2	ADAMTS18	16	77327045	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	46916717	77327045	13027708	87	6335											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)	ENST00000420246.2		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"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		117	53	0	0	0	1	0	117	53					A	7578212	G	A	7578212	4	1	51	1	0	0	0	0	0	1	0	0	16434	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		7578212	73616998	88	6336											
ELAC2	60528	broad.mit.edu	37	chr17	12898183	12898183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcatgcttgcagtgccGcaccagacaggtctgaaact	10	12	1	2	rs373464578		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:12898183G>A	ENST00000338034.4	-	21	2166	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	ELAC2_ENST00000395962.2_Missense_Mutation_p.R624W|ELAC2_ENST00000426905.3_Missense_Mutation_p.R603W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	643					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTGCAGTGCCGCACCAGACAG	0.632																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1927-1929)Cgg>Tgg		elaC ribonuclease Z 2		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	68	73	71		1807,1927,1924	5.3	1	17		71	0,8600		0,0,4300	no	missense,missense,missense	ELAC2	NM_001165962.1,NM_018127.6,NM_173717.1	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	603/787,643/827,642/826	12898183	1,13005	2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12898183G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1927C>T	17.37:g.12898183G>A	ENSP00000337445:p.Arg643Trp					ELAC2_ENST00000395962.2_Missense_Mutation_p.R624W|ELAC2_ENST00000426905.3_Missense_Mutation_p.R603W	p.R643W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			21	2166	-			643					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1927C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921938	0.52653	2.27E-4	0.0	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.77229	-1.08;-1.08;-1.08	5.35	5.35	0.76521	Beta-lactamase-like (1);	0.286793	0.39834	N	0.001253	D	0.87334	0.6151	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;P;D;D;D;P	0.70935	0.971;0.948;0.951;0.892;0.971;0.971;0.93;0.894	D	0.87873	0.2672	10	0.62326	D	0.03	-33.2711	16.5911	0.84765	0.0:0.0:1.0:0.0	.	603;626;624;441;643;403;628;271	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	W	603;643;624	ENSP00000405223:R603W;ENSP00000337445:R643W;ENSP00000379291:R624W	ENSP00000337445:R643W	R	-	1	2	ELAC2	12838908	0.989000	0.36119	1.000000	0.80357	0.963000	0.63663	4.710000	0.61873	2.781000	0.95711	0.655000	0.94253	CGG		0.632	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			5	446	0	0	0	1	0	5	446					A	12898183	G	A	12898183	3	1	51	1	0	0	0	0	1	0	0	0	5065	1086	38	1	569	1	ELAC2	17	12898183	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	5319971	12898183	68297027	89	6337											
MYOM1	8736	broad.mit.edu	37	chr18	3086037	3086046	+	Splice_Site	DEL	TCTGTTATAA	TCTGTTATAA	-													tacatttataatcgcctaccTctgttataagcagggtacat					rs190368385|rs146346828		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:3086037_3086046delTCTGTTATAA	ENST00000356443.4	-	30	4574_4583	c.4241_4250delTTATAACAGA	c.(4240-4251)cttataacagag>cg	p.LITE1414fs	MYOM1_ENST00000261606.7_Splice_Site_p.LITE1318fs|MYOM1_ENST00000400569.3_Splice_Site_p.LITE1414fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1414	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCGCCTACCTCTGTTATAAGCAGGGTACA	0.371																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e30+1		myomesin 1																																				SO:0001630	splice_region_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3086037_3086046delTCTGTTATAA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4251+1TTATAACAGA>-	18.37:g.3086037_3086046delTCTGTTATAA						MYOM1_ENST00000356443.4_Splice_Site_p.LITE1414_splice|MYOM1_ENST00000261606.7_Splice_Site_p.LITE1318_splice	p.LITE1414_splice			P52179	MYOM1_HUMAN			30	4574_4583	-			1414			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Splice_Site	DEL	ENST00000356443.4	37	c.4251_splice	CCDS45824.1																																																																																				0.371	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Frame_Shift_Del	31	248						31	248	---	---	---	---	-	3086046	TCTGTTATAA	-	3086037	8	5	51	1	0	1	0	1	0	0	1	0	10132	1565	54	0	843	0	MYOM1	18	3086037	Splice_Site	DEL	TCTGTTATAA	TCGA-FB-AAPZ-01A-11D-A40W-08		3086037	74991211	90	6338											
ROCK1	6093	broad.mit.edu	37	chr18	18625398	18625398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtattccatcaccatgtagaGataacgatcatcttggaatg	8	8	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:18625398G>A	ENST00000399799.2	-	5	1385	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCATGTAGAGATAACGATCA	0.328																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(445-447)Ctc>Ttc		Rho-associated, coiled-coil containing protein kinase 1							95	85	88					18																	18625398		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18625398G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.445C>T	18.37:g.18625398G>A	ENSP00000382697:p.Leu149Phe						p.L149F	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			5	1385	-	Melanoma(1;0.165)		149			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.445C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699139	0.88830	.	.	ENSG00000067900	ENST00000399799	T	0.69175	-0.38	5.36	4.49	0.54785	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	0.78413	0.4279	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80892	-0.1179	10	0.87932	D	0	.	14.1018	0.65062	0.0719:0.0:0.9281:0.0	.	149	Q13464	ROCK1_HUMAN	F	149	ENSP00000382697:L149F	ENSP00000382697:L149F	L	-	1	0	ROCK1	16879396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	1.485000	0.48380	0.655000	0.94253	CTC		0.328	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		23	208	0	0	0	1	0	23	208					A	18625398	G	A	18625398	3	1	51	1	0	0	0	0	1	0	0	0	13567	942	33	2	3735	2	ROCK1	18	18625398	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	15539361	18625398	59451850	91	6339											
RNF165	494470	broad.mit.edu	37	chr18	44030346	44030346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagacacacctccgccGtacgggagagctatgaggta	12	13	0	3	rs373942142		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:44030346G>A	ENST00000269439.7	+	5	754	c.703G>A	c.(703-705)Gta>Ata	p.V235I	RNF165_ENST00000543885.1_Missense_Mutation_p.V43I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	235							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCTCCGCCGTACGGGAGAG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21674	0.0		0.0	False		,,,				2504	0.001					ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(703-705)Gta>Ata		ring finger protein 165		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	85	76	79		703	5.3	0.7	18		79	0,8600		0,0,4300	no	missense	RNF165	NM_152470.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	235/347	44030346	1,13005	2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44030346G>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.703G>A	18.37:g.44030346G>A	ENSP00000269439:p.Val235Ile					RNF165_ENST00000543885.1_Missense_Mutation_p.V43I	p.V235I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	5	754	+			235					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.703G>A	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653556	0.67472	2.27E-4	0.0	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.22945	2.18;1.93	5.28	5.28	0.74379	.	0.067191	0.64402	D	0.000015	T	0.35913	0.0948	L	0.60455	1.87	0.58432	D	0.999999	D	0.61080	0.989	P	0.49421	0.61	T	0.03852	-1.0998	10	0.20519	T	0.43	.	19.277	0.94036	0.0:0.0:1.0:0.0	.	235	Q6ZSG1	RN165_HUMAN	I	235;43	ENSP00000269439:V235I;ENSP00000444285:V43I	ENSP00000269439:V235I	V	+	1	0	RNF165	42284344	1.000000	0.71417	0.746000	0.31095	0.873000	0.50193	9.420000	0.97426	2.647000	0.89833	0.467000	0.42956	GTA		0.522	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		76	59	0	0	0	1	0	76	59					A	44030346	G	A	44030346	3	1	51	1	0	0	0	0	1	0	0	0	13506	1145	40	1	721	1	RNF165	18	44030346	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	25404948	44030346	34046902	92	6340											
ZNF443	10224	broad.mit.edu	37	chr19	12542364	12542364	+	Frame_Shift_Del	DEL	A	A	-													catatgtaataaactgggccAaaaaaacgctttcccacaca							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:12542364delA	ENST00000301547.5	-	4	819	c.622delT	c.(622-624)tggfs	p.W208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAACTGGGCCAAAAAAACGCT	0.408																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(622-624)ggfs		zinc finger protein 443							98	99	98					19																	12542364		2203	4299	6502	SO:0001589	frameshift_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542364delA	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.622delT	19.37:g.12542364delA	ENSP00000301547:p.Trp208fs					CTD-3105H18.16_ENST00000595562.1_Intron	p.W208fs	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	819	-			208						Frame_Shift_Del	DEL	ENST00000301547.5	37	c.622delT	CCDS32918.1																																																																																				0.408	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	909						8	909	---	---	---	---	-	12542364	A	-	12542364	7	5	51	1	0	1	0	1	0	0	0	0	17969	130	5	0	1397	0	ZNF443	19	12542364	Frame_Shift_Del	DEL	A	TCGA-FB-AAPZ-01A-11D-A40W-08		12542364	46586619	93	6341											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1474						7	1474	---	---	---	---	-	36054351	CTT	-	36054349	7	5	51	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-FB-AAPZ-01A-11D-A40W-08	23511985	36054349	23074634	94	6342											
ZNF546	339327	broad.mit.edu	37	chr19	40520572	40520572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatagaactcatactggTgagaaaccctatgaatgtaa	7	8	2	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:40520572T>C	ENST00000347077.4	+	7	1611	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.G439G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCATACTGGTGAGAAACCCT	0.403																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1393-1395)ggT>ggC		zinc finger protein 546							73	75	75					19																	40520572		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520572T>C	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1395T>C	19.37:g.40520572T>C						ZNF546_ENST00000600094.1_Silent_p.G439G|ZNF546_ENST00000596894.1_Intron	p.G465G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1611	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		465					A8K913	Silent	SNP	ENST00000347077.4	37	c.1395T>C	CCDS12548.1																																																																																				0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		205	311	0	0	0	1	0	205	311					C	40520572	T	C	40520572	2	2	51	1	0	0	0	0	0	0	0	1	18031	1683	59	4		4	ZNF546	19	40520572	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	4466223	40520572	18608411	95	6343											
PSG8	440533	broad.mit.edu	37	chr19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatattggtccc	13	11	0	1	rs200167716		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43259170G>A	ENST00000306511.4	-	4	1055	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C|PSG8_ENST00000404209.4_Missense_Mutation_p.R320C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483																																						ENST00000404209.4																			2	Substitution - Missense(2)	p.R320C(2)	large_intestine(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(958-960)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 8		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	185	185	185		958,592,958	-2	0	19		185	1,8597		0,1,4298	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/420,198/298,320/427	43259170	1,13003	2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43259170G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.958C>T	19.37:g.43259170G>A	ENSP00000305005:p.Arg320Cys					PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000306511.4_Missense_Mutation_p.R320C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C	p.R320C	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	1054	-		Prostate(69;0.00899)	320			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.958C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	4.888	0.164951	0.09287	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.38	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25494	0.0620	M	0.78285	2.405	0.09310	N	1	D;P;B;B;B;B	0.69078	0.997;0.594;0.02;0.005;0.005;0.006	P;B;B;B;B;B	0.61397	0.888;0.284;0.009;0.07;0.005;0.009	T	0.13737	-1.0498	9	0.51188	T	0.08	.	2.0334	0.03534	0.2288:0.0:0.475:0.2962	.	198;227;320;227;320;320	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	320;198;227;132;227;320	ENSP00000385869:R320C;ENSP00000385081:R198C;ENSP00000386090:R227C;ENSP00000305005:R320C	ENSP00000305005:R320C	R	-	1	0	PSG8	47951010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.436000	0.02421	-0.117000	0.11872	-1.261000	0.01458	CGC		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			302	474	0	0	0	1	0	302	474					A	43259170	G	A	43259170	3	1	51	1	0	0	0	0	1	0	0	0	12708	1116	39	1	351	1	PSG8	19	43259170	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	2738598	43259170	15869813	96	6344											
PSG11	5680	broad.mit.edu	37	chr19	43523094	43523094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaccattcatccaccaCaggtagcttgcgtccggagt	9	14	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43523094C>T	ENST00000401740.1	-	3	640	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PSG11_ENST00000306322.7_Silent_p.L57L|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	179	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCATCCACCACAGGTAGCTTG	0.512																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(535-537)ctG>ctA		pregnancy specific beta-1-glycoprotein 11							259	265	263					19																	43523094		2200	4297	6497	SO:0001819	synonymous_variant	5680				female pregnancy	extracellular region		g.chr19:43523094C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.537G>A	19.37:g.43523094C>T						PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000306322.7_Silent_p.L57L	p.L179L			Q9UQ72	PSG11_HUMAN			3	640	-		Prostate(69;0.00682)	179			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	c.537G>A	CCDS12614.2																																																																																				0.512	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		766	1160	0	0	0	1	0	766	1160					T	43523094	C	T	43523094	2	4	51	1	0	0	0	0	0	0	0	1	12701	465	17	2		2	PSG11	19	43523094	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	263924	43523094	15605889	97	6345											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			14	479						14	479	---	---	---	---	-	54675749	TCC	-	54675747	7	5	51	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-FB-AAPZ-01A-11D-A40W-08	11152653	54675747	4453236	98	6346											
TNNI3	7137	broad.mit.edu	37	chr19	55665406	55665406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacactcaccttctcggTgtcctccttcttcacctgct	5	19	4	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:55665406T>G	ENST00000344887.5	-	7	683	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	TNNI3_ENST00000590463.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	181					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTCTCGGTGTCCTCCTTC	0.627																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(541-543)Acc>Ccc		troponin I type 3 (cardiac)							65	69	67					19																	55665406		2053	4215	6268	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665406T>G	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.541A>C	19.37:g.55665406T>G	ENSP00000341838:p.Thr181Pro					TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P	p.T181P	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	683	-			181						Missense_Mutation	SNP	ENST00000344887.5	37	c.541A>C	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.337852	0.41398	.	.	ENSG00000129991	ENST00000344887	D	0.94723	-3.5	4.72	2.5	0.30297	.	0.581099	0.16498	N	0.211800	D	0.90079	0.6901	L	0.52573	1.65	0.35660	D	0.81242	B	0.02656	0.0	B	0.01281	0.0	D	0.86432	0.1761	10	0.54805	T	0.06	-21.4095	4.2672	0.10769	0.0:0.1778:0.1798:0.6424	.	181	P19429	TNNI3_HUMAN	P	181	ENSP00000341838:T181P	ENSP00000341838:T181P	T	-	1	0	TNNI3	60357218	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	3.726000	0.54977	0.714000	0.32081	0.477000	0.44152	ACC		0.627	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			252	376	0	0	0	1	0	252	376					G	55665406	T	G	55665406	3	3	51	1	0	0	0	0	1	0	0	0	16380	1696	59	4	99	4	TNNI3	19	55665406	Missense_Mutation	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	989659	55665406	3463577	99	6347											
ZNF132	7691	broad.mit.edu	37	chr19	58944797	58944797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgaactttctggtgccGaacaagtgtagatctttcac	11	8	3	2	rs202158029		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:58944797G>A	ENST00000254166.3	-	3	2414	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	672					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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCTGGTGCCGAACAAGTGTA	0.448																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(2014-2016)Cgg>Tgg		zinc finger protein 132							110	100	104					19																	58944797		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58944797G>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.2014C>T	19.37:g.58944797G>A	ENSP00000254166:p.Arg672Trp						p.R672W	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	2414	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	672					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.2014C>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412314	0.42817	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.26660	1.72	3.05	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44519	0.1297	M	0.75884	2.315	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.11991	-1.0565	9	0.62326	D	0.03	.	7.4495	0.27229	0.0:0.0:0.4465:0.5535	.	672	P52740	ZN132_HUMAN	W	672;387	ENSP00000254166:R672W	ENSP00000254166:R672W	R	-	1	2	ZNF132	63636609	0.000000	0.05858	0.998000	0.56505	0.965000	0.64279	-4.163000	0.00282	1.419000	0.47118	0.650000	0.86243	CGG		0.448	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		6	423	0	0	0	1	0	6	423					A	58944797	G	A	58944797	3	1	51	1	0	0	0	0	1	0	0	0	17775	1057	37	1	110	1	ZNF132	19	58944797	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	3279391	58944797	184186	100	6348											
PHACTR3	116154	broad.mit.edu	37	chr20	58381152	58381152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaagctaaggaaccggCcaagcaaacaggaactagaa	11	10	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr20:58381152C>T	ENST00000371015.1	+	8	1698	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	411						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGAACCGGCCAAGCAAACA	0.512																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(1231-1233)Cca>Tca		phosphatase and actin regulator 3							142	153	149					20																	58381152		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58381152C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1231C>T	20.37:g.58381152C>T	ENSP00000360054:p.Pro411Ser					PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S	p.P411S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		8	1698	+	all_lung(29;0.00344)		411					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1231C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446091	0.84101	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.43688	1.21;1.25;0.94;1.25;1.25;1.25;0.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.83012	2.62	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	T	0.73467	-0.3973	10	0.66056	D	0.02	-16.2549	17.8596	0.88777	0.0:1.0:0.0:0.0	.	300;411;408	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	S	408;411;300;370;370;370;300	ENSP00000353002:P408S;ENSP00000360054:P411S;ENSP00000379001:P300S;ENSP00000442483:P370S;ENSP00000347866:P370S;ENSP00000378998:P370S;ENSP00000354555:P300S	ENSP00000347866:P370S	P	+	1	0	PHACTR3	57814547	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	7.818000	0.86416	2.460000	0.83146	0.650000	0.86243	CCA		0.512	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		458	594	0	0	0	1	0	458	594					T	58381152	C	T	58381152	3	4	51	1	0	0	0	0	1	0	0	0	11853	739	26	2	1261	2	PHACTR3	20	58381152	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		58381152	4644368	101	6349											
APP	351	broad.mit.edu	37	chr21	27327982	27327982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgggatccaccatgcGcacatgctcgaaatgcttta	8	11	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:27327982G>A	ENST00000346798.3	-	12	1579	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	APP_ENST00000348990.5_Missense_Mutation_p.R441C|APP_ENST00000358918.3_Missense_Mutation_p.R516C|APP_ENST00000448388.2_Missense_Mutation_p.R406C|APP_ENST00000354192.3_Missense_Mutation_p.R385C|APP_ENST00000359726.3_Missense_Mutation_p.R460C|APP_ENST00000357903.3_Missense_Mutation_p.R497C|APP_ENST00000440126.3_Missense_Mutation_p.R492C|APP_ENST00000439274.2_Missense_Mutation_p.R460C	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	516	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCCACCATGCGCACATGCTCG	0.502																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1546-1548)Cgc>Tgc		amyloid beta (A4) precursor protein							208	163	178					21																	27327982		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27327982G>A	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1546C>T	21.37:g.27327982G>A	ENSP00000284981:p.Arg516Cys					APP_ENST00000359726.3_Missense_Mutation_p.R460C|APP_ENST00000354192.3_Missense_Mutation_p.R385C|APP_ENST00000348990.5_Missense_Mutation_p.R441C|APP_ENST00000448388.2_Missense_Mutation_p.R406C|APP_ENST00000346798.3_Missense_Mutation_p.R516C|APP_ENST00000440126.3_Missense_Mutation_p.R492C|APP_ENST00000439274.2_Missense_Mutation_p.R460C|APP_ENST00000357903.3_Missense_Mutation_p.R497C	p.R516C	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			12	1745	-		Breast(209;0.00295)	516			Heparin-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1546C>T	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.382987|4.382987	0.82792|0.82792	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850|ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	.|T;T;T;T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Amyloidogenic glycoprotein, E2 domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64371|0.64371	0.2592|0.2592	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;P;D;P;D;D;P	.|0.89917	.|0.834;0.733;1.0;0.801;1.0;1.0;0.863	.|B;B;P;B;P;P;B	.|0.61201	.|0.203;0.203;0.885;0.128;0.816;0.816;0.354	T|T	0.63350|0.63350	-0.6657|-0.6657	5|10	.|0.51188	.|T	.|0.08	-18.2398|-18.2398	18.0151|18.0151	0.89236|0.89236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|406;460;492;385;441;497;516	.|E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.|.;.;.;.;.;.;A4_HUMAN	V|C	418|516;385;441;497;516;460;406;492;460;103	.|ENSP00000284981:R516C;ENSP00000346129:R385C;ENSP00000345463:R441C;ENSP00000350578:R497C;ENSP00000351796:R516C;ENSP00000352760:R460C;ENSP00000388538:R406C;ENSP00000387483:R492C;ENSP00000398879:R460C;ENSP00000397795:R103C	.|ENSP00000284981:R516C	A|R	-|-	2|1	0|0	APP|APP	26249853|26249853	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.768000|0.768000	0.43524|0.43524	7.369000|7.369000	0.79578|0.79578	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.502	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		5	322	0	0	0	1	0	5	322					A	27327982	G	A	27327982	3	1	51	1	0	0	0	0	1	0	0	0	815	1087	38	1	794	1	APP	21	27327982	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		27327982	20801913	102	6350											
DSCAM	1826	broad.mit.edu	37	chr21	42080519	42080519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgccgttggggtggacGtggcggatcccggggacatc	19	9	0	1	rs371757548		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42080519G>A	ENST00000400454.1	-	2	699	c.222C>T	c.(220-222)caC>caT	p.H74H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	74	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGGTGGACGTGGCGGATCC	0.542																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(220-222)caC>caT		Down syndrome cell adhesion molecule		G		1,3929		0,1,1964	92	96	94		222	5.1	1	21		94	0,8308		0,0,4154	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6118	AA,AG,GG		0.0,0.0254,0.0082		74/2013	42080519	1,12237	1965	4154	6119	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080519G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.222C>T	21.37:g.42080519G>A							p.H74H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			2	699	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	74			Ig-like C2-type 1.		O60468	Silent	SNP	ENST00000400454.1	37	c.222C>T	CCDS42929.1																																																																																				0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		51	363	0	0	0	1	0	51	363					A	42080519	G	A	42080519	2	1	51	1	0	0	0	0	0	0	0	1	4784	1136	40	1		1	DSCAM	21	42080519	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	14752537	42080519	6049376	103	6351											
MX2	4600	broad.mit.edu	37	chr21	42749046	42749046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctcactttgaacaatcaGccaccaccaggaaacaggag	7	12	2	1	rs142593261		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42749046G>T	ENST00000330714.3	+	2	397	c.213G>T	c.(211-213)caG>caT	p.Q71H	MX2_ENST00000543692.1_Missense_Mutation_p.Q71H	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	71					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGAACAATCAGCCACCACCAG	0.552																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(211-213)caG>caT		myxovirus (influenza virus) resistance 2 (mouse)							116	127	123					21																	42749046		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42749046G>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.213G>T	21.37:g.42749046G>T	ENSP00000333657:p.Gln71His					MX2_ENST00000543692.1_Missense_Mutation_p.Q71H	p.Q71H	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	397	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	71					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.213G>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923572	0.33908	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	D;D	0.92397	-2.58;-3.03	2.47	1.58	0.23477	.	4.843280	0.00597	N	0.000371	D	0.90407	0.6997	L	0.50333	1.59	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.78957	-0.1999	10	0.59425	D	0.04	.	5.0852	0.14678	0.1707:0.0:0.8293:0.0	.	71	P20592	MX2_HUMAN	H	71	ENSP00000333657:Q71H;ENSP00000446017:Q71H	ENSP00000333657:Q71H	Q	+	3	2	MX2	41670916	0.005000	0.15991	0.002000	0.10522	0.018000	0.09664	1.088000	0.30877	0.614000	0.30107	0.561000	0.74099	CAG		0.552	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		302	412	1	0	3.24668e-178	1	3.66069e-178	302	412					T	42749046	G	T	42749046	3	4	51	1	0	0	0	0	1	0	0	0	10039	962	34	3	215	3	MX2	21	42749046	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	668527	42749046	5380849	104	6352											
CYBB	1536	broad.mit.edu	37	chrX	37653065	37653065	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgaaagagaataaaggTaagcctctcattatctgact	8	8	2	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:37653065T>C	ENST00000378588.4	+	5	550		c.e5+2		CYBB_ENST00000545017.1_Splice_Site|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide						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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AGAATAAAGGTAAGCCTCTCA	0.373																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32	GRCh37	CS961541	CYBB	S		c.e5+2		cytochrome b-245, beta polypeptide							77	68	71					X																	37653065		2201	4300	6501	SO:0001630	splice_region_variant	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:37653065T>C	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.483+2T>C	X.37:g.37653065T>C						CYBB_ENST00000545017.1_Splice_Site|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron		NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			5	550	+								A8K138|Q2PP16	Splice_Site	SNP	ENST00000378588.4	37		CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357925	0.61403	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9689	0.71217	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYBB	37538005	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.466000	0.60148	1.917000	0.55516	0.483000	0.47432	.		0.373	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		Intron	26	168	0	0	0	1	0	26	168					C	37653065	T	C	37653065	5	2	51	1	0	0	0	0	0	0	1	0	4144	1652	57	4	503	4	CYBB	23	37653065	Splice_Site	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08		37653065	117617495	105	6353											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		9	462						9	462	---	---	---	---	-	54011407	CTC	-	54011405	7	5	51	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-FB-AAPZ-01A-11D-A40W-08	16358340	54011405	101259155	106	6354											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		8	215						8	215	---	---	---	---	-	119694119	GAG	-	119694117	7	5	51	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-FB-AAPZ-01A-11D-A40W-08	65682712	119694117	35576443	107	6355											
SAGE1	55511	broad.mit.edu	37	chrX	134994561	134994561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgttgaatttaccatcaAggaagcagcaaggtgagtgc	11	6	1	2	rs200846172		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:134994561A>G	ENST00000370709.3	+	18	2603	c.2603A>G	c.(2602-2604)aAg>aGg	p.K868R	SAGE1_ENST00000324447.3_Missense_Mutation_p.K868R|SAGE1_ENST00000535938.1_Missense_Mutation_p.K868R|SAGE1_ENST00000537770.1_Missense_Mutation_p.K492R			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	868						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTACCATCAAGGAAGCAGCA	0.368																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2602-2604)aAg>aGg		sarcoma antigen 1							122	118	119					X																	134994561		2202	4300	6502	SO:0001583	missense	55511							g.chrX:134994561A>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2603A>G	X.37:g.134994561A>G	ENSP00000359743:p.Lys868Arg					SAGE1_ENST00000324447.3_Missense_Mutation_p.K868R|SAGE1_ENST00000537770.1_Missense_Mutation_p.K492R|SAGE1_ENST00000370709.3_Missense_Mutation_p.K868R	p.K868R	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			19	2770	+	Acute lymphoblastic leukemia(192;0.000127)		868					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2603A>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343088	0.41498	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.40756	1.02;1.02;1.07;1.02	2.15	2.15	0.27550	.	0.164350	0.52532	N	0.000077	T	0.27349	0.0671	L	0.33753	1.03	0.30180	N	0.800451	B;B	0.28713	0.015;0.22	B;B	0.22880	0.011;0.042	T	0.17258	-1.0375	10	0.37606	T	0.19	.	8.7677	0.34713	1.0:0.0:0.0:0.0	.	492;868	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	R	868;868;492;868	ENSP00000323191:K868R;ENSP00000445959:K868R;ENSP00000438276:K492R;ENSP00000359743:K868R	ENSP00000323191:K868R	K	+	2	0	SAGE1	134822227	1.000000	0.71417	0.996000	0.52242	0.672000	0.39443	3.638000	0.54332	0.862000	0.35528	0.150000	0.16122	AAG		0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		6	492	0	0	0	1	0	6	492					G	134994561	A	G	134994561	3	3	51	1	0	0	0	0	1	0	0	0	13859	72	3	4	2673	4	SAGE1	23	134994561	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	15300444	134994561	20275999	108	6356											
ZIC3	7547	broad.mit.edu	37	chrX	136651124	136651124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccaacagcagcgaccGtaagaagcacatgcatgtgc	10	12	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:136651124G>A	ENST00000287538.5	+	2	1674	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	375					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCAGCGACCGTAAGAAGCAC	0.502																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1123-1125)cGt>cAt		Zic family member 3							211	184	193					X																	136651124		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136651124G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1124G>A	X.37:g.136651124G>A	ENSP00000287538:p.Arg375His					ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H	p.R375H	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			2	1674	+	Acute lymphoblastic leukemia(192;0.000127)		375					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1124G>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308427	0.95629	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.07567	3.18;3.18	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00316	-1.1823	10	0.87932	D	0	.	17.7298	0.88374	0.0:0.0:1.0:0.0	.	375	O60481	ZIC3_HUMAN	H	375	ENSP00000287538:R375H;ENSP00000359638:R375H	ENSP00000287538:R375H	R	+	2	0	ZIC3	136478790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.405000	0.81733	0.600000	0.82982	CGT		0.502	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			6	837	0	0	0	1	0	6	837					A	136651124	G	A	136651124	3	1	51	1	0	0	0	0	1	0	0	0	17733	1145	40	1	1130	1	ZIC3	23	136651124	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	1656563	136651124	18619436	109	6357											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251922	12251922	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgagcaagcaggagggGtgccggctgtgcgcgccgct	19	12	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:12251922G>T	ENST00000376259.3	+	4	488	c.399G>T	c.(397-399)ggG>ggT	p.G133G	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.G133G|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	133					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	AGCAGGAGGGGTGCCGGCTGT	0.692																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(397-399)ggG>ggT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						24	25	25					1																	12251922		2202	4299	6501	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251922G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.399G>T	1.37:g.12251922G>T						TNFRSF1B_ENST00000536782.1_Silent_p.G133G|TNFRSF1B_ENST00000492361.1_3'UTR	p.G133G	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	488	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	133					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.399G>T	CCDS145.1																																																																																				0.692	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		30	97	1	0	1.06801e-11	1	1.14968e-11	30	97					T	12251922	G	T	12251922	2	4	52	1	0	0	0	0	0	0	0	1	16346	1248	44	3		3	TNFRSF1B	1	12251922	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		12251922	236998699	1	6358											
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	8	8	2	2	rs201055589		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63	41	49					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		8	239	0	0	0	1	0	8	239					G	21806606	T	G	21806606	3	3	52	1	0	0	0	0	1	0	0	0	10239	1841	64	4	1309	4	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	9554684	21806606	227444015	2	6359											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	245						7	245	---	---	---	---	-	46184898	AC	-	46184897	7	5	52	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-FB-AAQ0-01A-31D-A40W-08	24378291	46184897	203065724	3	6360											
INADL	10207	broad.mit.edu	37	chr1	62455974	62455974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatatttgtggtgggaAttaacccggaaggacctgct	13	7	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:62455974A>C	ENST00000371158.2	+	28	3919	c.3805A>C	c.(3805-3807)Att>Ctt	p.I1269L	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L|INADL_ENST00000543708.1_Missense_Mutation_p.I53L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1269	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGGTGGGAATTAACCCGGA	0.428																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3805-3807)Att>Ctt		InaD-like (Drosophila)							100	94	96					1																	62455974		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455974A>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3805A>C	1.37:g.62455974A>C	ENSP00000360200:p.Ile1269Leu					INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L	p.I1269L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3919	+			1269			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3805A>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175730	0.78564	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.84	5.84	0.93424	PDZ/DHR/GLGF (4);	0.078603	0.51477	D	0.000096	T	0.61664	0.2365	L	0.56396	1.775	0.80722	D	1	B;P;D;D;D	0.57571	0.028;0.911;0.966;0.973;0.98	P;D;D;D;D	0.81914	0.592;0.986;0.991;0.995;0.995	T	0.61028	-0.7145	10	0.48119	T	0.1	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	53;728;1269;1269;1269	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	L	1269;1269;1269;1269;53;53	ENSP00000360200:I1269L;ENSP00000326199:I1269L;ENSP00000307496:I53L;ENSP00000445790:I53L	ENSP00000307496:I53L	I	+	1	0	INADL	62228562	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.256000	0.72473	2.228000	0.72767	0.533000	0.62120	ATT		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		15	268	0	0	0	1	0	15	268					C	62455974	A	C	62455974	3	2	52	1	0	0	0	0	1	0	0	0	7761	101	4	4	3911	4	INADL	1	62455974	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	16271077	62455974	186794647	4	6361											
CLCA1	1179	broad.mit.edu	37	chr1	86961301	86961301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagttaacgcagccagaCggagagtgataccccagcag	14	10	0	3	rs373476030		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:86961301C>T	ENST00000234701.3	+	13	2407	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	686					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGCAGCCAGACGGAGAGTGAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20857	0.0		0.001	False		,,,				2504	0.0					ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2056-2058)Cgg>Tgg		chloride channel accessory 1		C	TRP/ARG	0,4406		0,0,2203	92	89	90		2056	3.8	0	1		90	2,8598	2.2+/-6.3	0,2,4298	no	missense	CLCA1	NM_001285.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	686/915	86961301	2,13004	2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86961301C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2056C>T	1.37:g.86961301C>T	ENSP00000234701:p.Arg686Trp					CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W	p.R686W			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	13	2407	+		Lung NSC(277;0.239)	686					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2056C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959770	0.34565	0.0	2.33E-4	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03152	4.03;4.03	5.69	3.76	0.43208	.	0.549745	0.17770	N	0.162617	T	0.01523	0.0049	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.43360	-0.9396	10	0.44086	T	0.13	-0.0463	16.1222	0.81365	0.0:0.747:0.253:0.0	.	686	A8K7I4	CLCA1_HUMAN	W	686	ENSP00000234701:R686W;ENSP00000378200:R686W	ENSP00000234701:R686W	R	+	1	2	CLCA1	86733889	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.487000	0.22356	0.816000	0.34421	-0.175000	0.13238	CGG		0.453	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		47	147	0	0	0	1	0	47	147					T	86961301	C	T	86961301	3	4	52	1	0	0	0	0	1	0	0	0	3466	527	19	1	2102	1	CLCA1	1	86961301	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	24505327	86961301	162289320	5	6362											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1	rs77113202		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	51	1	0	0.150653	1	0.151481	4	51					A	145324377	C	A	145324377	3	1	52	1	0	0	0	0	1	0	0	0	10234	768	27	3	3682	3	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	58363076	145324377	103926244	6	6363											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150527952	150527952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccggccccgtggcttcCgcttctatgtccgtcacact	9	17	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:150527952C>T	ENST00000369038.2	+	6	1483	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R428C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	428					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTGGCTTCCGCTTCTATGT	0.607																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1282-1284)Cgc>Tgc		ADAMTS-like 4							86	76	79					1																	150527952		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150527952C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1282C>T	1.37:g.150527952C>T	ENSP00000358034:p.Arg428Cys					RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C	p.R428C	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1518	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		428					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1282C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291565	0.80914	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68765	3.82;3.82;-0.35;3.82	4.69	4.69	0.59074	.	.	.	.	.	T	0.77631	0.4159	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.997;0.999	T	0.80717	-0.1258	9	0.87932	D	0	.	15.1631	0.72801	0.0:1.0:0.0:0.0	.	451;451;428;428	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	428;428;451;428	ENSP00000358037:R428C;ENSP00000271643:R428C;ENSP00000358035:R451C;ENSP00000358034:R428C	ENSP00000271643:R428C	R	+	1	0	ADAMTSL4	148794576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.720000	0.54933	2.426000	0.82243	0.561000	0.74099	CGC		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		8	191	0	0	0	1	0	8	191					T	150527952	C	T	150527952	3	4	52	1	0	0	0	0	1	0	0	0	277	652	23	1	1304	1	ADAMTSL4	1	150527952	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	5203575	150527952	98722669	7	6364											
ASH1L	55870	broad.mit.edu	37	chr1	155450526	155450527	+	Frame_Shift_Ins	INS	-	-	T													ccgaggttttcttccttttcINSttttttttaatggtttggac							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:155450526_155450527insT	ENST00000368346.3	-	3	2773_2774	c.2134_2135insA	c.(2134-2136)agafs	p.R712fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R712fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	712					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAAT	0.401																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2134-2136)aaafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450526_155450527insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2135dupA	1.37:g.155450534_155450534dupT	ENSP00000357330:p.Arg712fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs	p.K712fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2773_2774	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		712					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.2134_2135insA																																																																																					0.401	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	555						7	555	---	---	---	---	T	155450527	-	T	155450526	7	5	52	1	0	1	1	0	0	0	0	0	1042	913	32	0	6863	0	ASH1L	1	155450526	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ0-01A-31D-A40W-08	4922574	155450526	93800095	8	6365											
MEF2D	4209	broad.mit.edu	37	chr1	156437921	156437921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcataggatcccccggctGggctgctgagaccatcgcca	11	15	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:156437921G>A	ENST00000348159.4	-	11	1898	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	473					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCCGGCTGGGCTGCTGAG	0.706																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1417-1419)cCa>cTa		myocyte enhancer factor 2D							33	38	37					1																	156437921		2201	4296	6497	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156437921G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1418C>T	1.37:g.156437921G>A	ENSP00000271555:p.Pro473Leu					MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L	p.P473L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			11	1898	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		473					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1418C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075854	0.55646	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.58652	0.32;0.33;0.33;0.72;0.33;0.32	3.83	3.83	0.44106	.	0.187490	0.42420	D	0.000707	T	0.27559	0.0677	N	0.08118	0	0.36720	D	0.881122	P;P;P	0.48911	0.917;0.791;0.867	B;B;P	0.47346	0.401;0.342;0.544	T	0.33240	-0.9876	10	0.66056	D	0.02	-9.2416	8.8543	0.35219	0.0:0.0:0.6507:0.3493	.	478;473;466	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	L	473;472;466;427;466;465	ENSP00000271555:P473L;ENSP00000343159:P472L;ENSP00000357223:P466L;ENSP00000344705:P427L;ENSP00000353803:P466L;ENSP00000388505:P465L	ENSP00000343159:P472L	P	-	2	0	MEF2D	154704545	0.999000	0.42202	0.899000	0.35326	0.845000	0.48019	2.975000	0.49281	1.979000	0.57680	0.313000	0.20887	CCA		0.706	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		18	380	0	0	0	1	0	18	380					A	156437921	G	A	156437921	3	1	52	1	0	0	0	0	1	0	0	0	9499	1348	47	2	155	2	MEF2D	1	156437921	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	987395	156437921	92812700	9	6366											
PVRL4	81607	broad.mit.edu	37	chr1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-													caagagtgcggcgatcacacCcaccaccaccaccgaggctg							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)gtgggt>ggt	p.V353del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V87del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1057-1062)ggt>g		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044104_161044106delCCA	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1058_1060delTGG	1.37:g.161044113_161044115delCCA	ENSP00000356991:p.Val353del					PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	p.VG353del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1360_1362	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		353					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1058_1060delTGG	CCDS1216.1																																																																																				0.606	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	693						11	693	---	---	---	---	-	161044106	CCA	-	161044104	7	5	52	1	0	1	0	1	0	0	0	0	12892	623	22	0	488	0	PVRL4	1	161044104	In_Frame_Del	DEL	CCA	TCGA-FB-AAQ0-01A-31D-A40W-08	4606183	161044104	88206517	10	6367											
LHX9	56956	broad.mit.edu	37	chr1	197889248	197889248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagctggccctcgagtcCgagctcacctgctttgccaa	10	14	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:197889248C>T	ENST00000367387.4	+	2	746	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000561173.1_Silent_p.S113S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557																																						ENST00000367390.3																			2	Substitution - coding silent(2)	p.S107S(1)|p.S98S(1)	lung(2)	endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(292-294)tcC>tcT		LIM homeobox 9							217	205	209					1																	197889248		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889248C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.321C>T	1.37:g.197889248C>T						LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000367387.4_Silent_p.S107S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S	p.S98S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			3	321	+			107			LIM zinc-binding 1.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.294C>T	CCDS1393.1																																																																																				0.557	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		14	1352	0	0	0	1	0	14	1352					T	197889248	C	T	197889248	2	4	52	1	0	0	0	0	0	0	0	1	8809	639	23	1		1	LHX9	1	197889248	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	36845144	197889248	51361373	11	6368											
WNT3A	89780	broad.mit.edu	37	chr1	228238515	228238515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggggtggctgtagcgagGacatcgagtttggtgggatg	20	4	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228238515G>A	ENST00000284523.1	+	3	550	c.472G>A	c.(472-474)Gac>Aac	p.D158N	WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	158					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGTAGCGAGGACATCGAGTT	0.657																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(472-474)Gac>Aac		wingless-type MMTV integration site family, member 3A							114	109	110					1																	228238515		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238515G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.472G>A	1.37:g.228238515G>A	ENSP00000284523:p.Asp158Asn					WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			3	550	+		Prostate(94;0.0405)	158					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.472G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233798	0.22626	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.73469	-0.75;-0.75	4.78	3.85	0.44370	.	0.056503	0.64402	D	0.000002	T	0.60261	0.2255	N	0.12853	0.265	0.80722	D	1	B;B	0.21309	0.054;0.034	B;B	0.37833	0.259;0.084	T	0.51779	-0.8662	10	0.02654	T	1	.	14.9341	0.70938	0.0:0.144:0.856:0.0	.	158;158	P56704;Q3SY79	WNT3A_HUMAN;.	N	158	ENSP00000284523:D158N;ENSP00000355715:D158N	ENSP00000284523:D158N	D	+	1	0	WNT3A	226305138	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.927000	0.87577	1.010000	0.39314	0.591000	0.81541	GAC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		18	283	0	0	0	1	0	18	283					A	228238515	G	A	228238515	3	1	52	1	0	0	0	0	1	0	0	0	17443	1174	41	2	482	2	WNT3A	1	228238515	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	30349267	228238515	21012106	12	6369											
HIST3H3	8290	broad.mit.edu	37	chr1	228612733	228612733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagccccaccaggtaagaCtcgcacgcctcctgcagcgc	9	18	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228612733C>A	ENST00000366696.1	-	1	293	c.294G>T	c.(292-294)gaG>gaT	p.E98D		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	98					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCAGGTAAGACTCGCACGCCT	0.602																																						ENST00000366696.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(292-294)gaG>gaT		histone cluster 3, H3							96	87	90					1																	228612733		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612733C>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.294G>T	1.37:g.228612733C>A	ENSP00000355657:p.Glu98Asp						p.E98D	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	293	-		Prostate(94;0.0724)	98					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.294G>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592525	0.28357	.	.	ENSG00000168148	ENST00000366696	T	0.78595	-1.19	3.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.40064	N	0.001184	D	0.91808	0.7408	H	0.99972	5.13	0.34984	D	0.754365	P	0.48911	0.917	P	0.53988	0.739	D	0.94532	0.7737	10	0.87932	D	0	.	10.0089	0.41975	0.0:0.8982:0.0:0.1017	.	98	Q16695	H31T_HUMAN	D	98	ENSP00000355657:E98D	ENSP00000355657:E98D	E	-	3	2	HIST3H3	226679356	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	2.261000	0.43276	1.202000	0.43218	-0.162000	0.13425	GAG		0.602	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		26	441	1	0	2.24059e-21	1	2.45526e-21	26	441					A	228612733	C	A	228612733	3	1	52	1	0	0	0	0	1	0	0	0	7214	564	20	3	120	3	HIST3H3	1	228612733	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	374218	228612733	20637888	13	6370											
PLD5	200150	broad.mit.edu	37	chr1	242271086	242271086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaggagtcgaactctaaCgcttcgtaaaactaatgctt	7	8	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:242271086C>T	ENST00000536534.2	-	8	1367	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	PLD5_ENST00000442594.2_Missense_Mutation_p.V284I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	376						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGAACTCTAACGCTTCGTAAA	0.358																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(850-852)Gtt>Att		phospholipase D family, member 5							98	101	100					1																	242271086		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242271086C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1126G>A	1.37:g.242271086C>T	ENSP00000440896:p.Val376Ile					PLD5_ENST00000536534.1_Missense_Mutation_p.V376I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I	p.V284I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		9	1359	-	Melanoma(84;0.242)		376					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.850G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329054	0.41197	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.38240	1.15;1.15;1.15	5.38	5.38	0.77491	Phospholipase D/viral envelope (1);	0.067526	0.64402	D	0.000014	T	0.24851	0.0603	L	0.33245	0.995	0.47659	D	0.999489	B;B;B	0.29115	0.108;0.233;0.108	B;B;B	0.20384	0.014;0.029;0.009	T	0.06552	-1.0820	10	0.42905	T	0.14	-16.1879	8.703	0.34338	0.0:0.8646:0.0:0.1354	.	284;376;314	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	I	314;284;376	ENSP00000401285:V314I;ENSP00000414188:V284I;ENSP00000440896:V376I	ENSP00000401285:V314I	V	-	1	0	PLD5	240337709	0.962000	0.33011	0.995000	0.50966	0.992000	0.81027	2.078000	0.41567	2.497000	0.84241	0.643000	0.83706	GTT		0.358	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		150	444	0	0	0	1	0	150	444					T	242271086	C	T	242271086	3	4	52	1	0	0	0	0	1	0	0	0	12091	536	19	1	496	1	PLD5	1	242271086	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	13658353	242271086	6979535	14	6371											
KDM3A	55818	broad.mit.edu	37	chr2	86693827	86693827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacatgcaccttccccatCggatgtttcaaatgcaccag	7	13	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:86693827C>T	ENST00000409556.1	+	11	1705	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	447			S -> P (in dbSNP:rs34605051). {ECO:0000269|PubMed:17974005}.		androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTTCCCCATCGGATGTTTCA	0.448																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1339-1341)tCg>tTg		lysine (K)-specific demethylase 3A							110	108	109					2																	86693827		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86693827C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1340C>T	2.37:g.86693827C>T	ENSP00000386660:p.Ser447Leu					KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L	p.S447L			Q9Y4C1	KDM3A_HUMAN			11	1705	+			447		S -> P (in dbSNP:rs34605051).			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1340C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073442	0.36566	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.65	5.65	0.86999	.	0.170906	0.41712	D	0.000825	T	0.42698	0.1214	L	0.27053	0.805	0.09310	N	0.999999	P;P	0.39696	0.683;0.555	B;B	0.29716	0.106;0.049	T	0.45323	-0.9269	10	0.41790	T	0.15	.	16.8834	0.86069	0.0:1.0:0.0:0.0	.	395;447	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	447;447;447;447;395	ENSP00000386660:S447L;ENSP00000323659:S447L;ENSP00000386516:S447L;ENSP00000438324:S395L	ENSP00000323659:S447L	S	+	2	0	KDM3A	86547338	0.450000	0.25697	0.025000	0.17156	0.248000	0.25809	3.021000	0.49651	2.663000	0.90544	0.563000	0.77884	TCG		0.448	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		28	480	0	0	0	1	0	28	480					T	86693827	C	T	86693827	3	4	52	1	0	0	0	0	1	0	0	0	8156	893	31	1	1374	1	KDM3A	2	86693827	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		86693827	156505546	15	6372											
NEB	4703	broad.mit.edu	37	chr2	152376273	152376273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttatcgaaattttctcGgtatttaacctaacagcaaa	4	8	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:152376273G>A	ENST00000172853.10	-	126	17533	c.17386C>T	c.(17386-17388)Cga>Tga	p.R5796*	NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497*			P20929	NEBU_HUMAN	nebulin	5796					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)			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)		AAATTTTCTCGGTATTTAACC	0.353																																						ENST00000427231.2																			0				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						c.(22489-22491)Cga>Tga		nebulin							228	197	206					2																	152376273		1822	4074	5896	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.chr2:152376273G>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.17386C>T	2.37:g.152376273G>A	ENSP00000172853:p.Arg5796*					NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000172853.10_Nonsense_Mutation_p.R5796*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497*	p.R7497*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	154	22691	-			5796					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.22489C>T		.	.	.	.	.	.	.	.	.	.	G	58	30.674372	0.99977	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	6.16	6.16	0.99307	.	0.109561	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.6708	0.62424	0.0:0.0:0.7491:0.2509	.	.	.	.	X	5796;7497;7497;1845;2227;5796	.	ENSP00000172853:R5796X	R	-	1	2	NEB	152084519	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.539000	0.53604	2.937000	0.99478	0.650000	0.86243	CGA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	245	0	0	0	1	0	5	245					A	152376273	G	A	152376273	4	1	52	1	0	0	0	0	0	1	0	0	10344	1124	39	1	3204	1	NEB	2	152376273	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	65682446	152376273	90823100	16	6373											
TTN	7273	broad.mit.edu	37	chr2	179436797	179436797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattctgagctgaaacacGgaaagagtattcttcaccct	7	10	4	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:179436797G>A	ENST00000591111.1	-	276	69363	c.69139C>T	c.(69139-69141)Cgt>Tgt	p.R23047C	TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24688C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23047	Fibronectin type-III 67. {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)			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)			GCTGAAACACGGAAAGAGTAT	0.478																																						ENST00000589042.1																			0				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						c.(74062-74064)Cgt>Tgt		titin							76	70	72					2																	179436797		1970	4161	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436797G>A	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.69139C>T	2.37:g.179436797G>A	ENSP00000465570:p.Arg23047Cys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23047C	p.R24688C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74286	-			23047			Fibronectin type-III 79.		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.74062C>T		.	.	.	.	.	.	.	.	.	.	G	11.78	1.740484	0.30865	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.07	5.18	0.71444	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82986	0.5156	H	0.94306	3.52	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	0.88470	0.3061	9	0.87932	D	0	.	16.9885	0.86347	0.0:0.0:0.8717:0.1283	.	15623;15748;15815;23047	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22120;15623;15815;15748;15621	ENSP00000343764:R22120C;ENSP00000434586:R15623C;ENSP00000340554:R15815C;ENSP00000352154:R15748C	ENSP00000340554:R15815C	R	-	1	0	TTN	179145043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.586000	0.67503	1.556000	0.49512	0.650000	0.86243	CGT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	134	0	0	0	1	0	43	134					A	179436797	G	A	179436797	3	1	52	1	0	0	0	0	1	0	0	0	16789	1116	39	1	34065	1	TTN	2	179436797	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	27060524	179436797	63762576	17	6374											
ABCA12	26154	broad.mit.edu	37	chr2	215891634	215891634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatatatttaagagggCatcttcaaagttttccagaa	8	6	2	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:215891634C>T	ENST00000272895.7	-	10	1309	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	364					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAGAGGGCATCTTCAAAG	0.353																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1090-1092)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 12							108	118	115					2																	215891634		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215891634C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1090G>A	2.37:g.215891634C>T	ENSP00000272895:p.Ala364Thr					AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T	p.A364T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	10	1309	-		Renal(323;0.127)	364					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1090G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673387	0.29693	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.47528	0.84;0.84	5.78	2.97	0.34412	.	0.691400	0.13955	N	0.351234	T	0.22898	0.0553	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05886	-1.0858	10	0.19590	T	0.45	.	5.212	0.15322	0.1525:0.6287:0.0:0.2188	.	364;46	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	364;46	ENSP00000272895:A364T;ENSP00000374312:A46T	ENSP00000272895:A364T	A	-	1	0	ABCA12	215599879	0.993000	0.37304	0.962000	0.40283	0.878000	0.50629	0.882000	0.28186	0.766000	0.33244	0.655000	0.94253	GCC		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		139	531	0	0	0	1	0	139	531					T	215891634	C	T	215891634	3	4	52	1	0	0	0	0	1	0	0	0	30	710	25	2	6873	2	ABCA12	2	215891634	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	36454837	215891634	27307739	18	6375											
CAND2	23066	broad.mit.edu	37	chr3	12869094	12869094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggctgaaggaccactaCgacatccgggtaagaccaag	13	11	0	2	rs367749511		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3364-3366)taC>taT		cullin-associated and neddylation-dissociated 2 (putative)		C	,	1,4065		0,1,2032	108	108	108		3366,3015	-6	0.9	3		108	0,8350		0,0,4175	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6207	TT,TC,CC		0.0,0.0246,0.0081	,	1122/1237,1005/1120	12869094	1,12415	2033	4175	6208	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12869094C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3366C>T	3.37:g.12869094C>T						CAND2_ENST00000295989.5_Silent_p.Y1005Y	p.Y1122Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			13	3407	+			1122					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.3366C>T	CCDS54554.1																																																																																				0.562	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		69	236	0	0	0	1	0	69	236					T	12869094	C	T	12869094	2	4	52	1	0	0	0	0	0	0	0	1	2623	547	19	1		1	CAND2	3	12869094	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		12869094	185153336	19	6376											
RPL32	6161	broad.mit.edu	37	chr3	12877678	12877678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttccacgatggctttgCggttcttggaggaaacattg	11	9	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12877678C>T	ENST00000429711.2	-	4	422	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RPL32_ENST00000273223.6_Missense_Mutation_p.R126H|RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000396957.1_Missense_Mutation_p.R108H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GATGGCTTTGCGGTTCTTGGA	0.507																																						ENST00000429711.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(322-324)cGc>cAc		ribosomal protein L32							74	66	68					3																	12877678		2203	4298	6501	SO:0001583	missense	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12877678C>T	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.323G>A	3.37:g.12877678C>T	ENSP00000416429:p.Arg108His					RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H	p.R108H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN			4	422	-			108					B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	c.323G>A	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323886	0.81580	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.58969	1.84	0.80722	D	1	B	0.19817	0.039	B	0.22386	0.039	T	0.62553	-0.6830	9	0.48119	T	0.1	0.0875	17.0408	0.86489	0.0:1.0:0.0:0.0	.	108	P62910	RL32_HUMAN	H	108;108;126;108;108;108	.	ENSP00000339064:R126H	R	-	2	0	RPL32	12852678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.916000	0.69981	2.684000	0.91462	0.655000	0.94253	CGC		0.507	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		5	331	0	0	0	1	0	5	331					T	12877678	C	T	12877678	3	4	52	1	0	0	0	0	1	0	0	0	13632	768	27	1	88	1	RPL32	3	12877678	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	8584	12877678	185144752	20	6377											
BAP1	8314	broad.mit.edu	37	chr3	52439281	52439281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgggatggggcttgtgCgcatgaaccagccgcctcct	15	12	0	1	rs143891879		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:52439281C>T	ENST00000460680.1	-	11	1432	c.961G>A	c.(961-963)Gca>Aca	p.A321T	BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGGCTTGTGCGCATGAACCA	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"N, Mis, F, S, O"	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(961-963)Gca>Aca		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		C	THR/ALA	0,4406		0,0,2203	107	111	109		961	-1.8	0.8	3	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAP1	NM_004656.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	321/730	52439281	1,13005	2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439281C>T	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.961G>A	3.37:g.52439281C>T	ENSP00000417132:p.Ala321Thr					BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	p.A321T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1432	-			321					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.961G>A	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956758	0.02267	0.0	1.16E-4	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.55234	0.53;0.53	5.7	-1.84	0.07809	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	1.030140	0.07617	N	0.926461	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	10	0.12430	T	0.62	0.0472	1.5128	0.02500	0.1854:0.2765:0.3343:0.2038	.	321	Q92560	BAP1_HUMAN	T	321;303	ENSP00000417132:A321T;ENSP00000296288:A303T	ENSP00000296288:A303T	A	-	1	0	BAP1	52414321	0.982000	0.34865	0.833000	0.33012	0.079000	0.17450	0.076000	0.14712	-0.819000	0.04323	-3.451000	0.00036	GCA		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			6	653	0	0	0	1	0	6	653					T	52439281	C	T	52439281	3	4	52	1	0	0	0	0	1	0	0	0	1312	768	27	1	1256	1	BAP1	3	52439281	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	39561603	52439281	145583149	21	6378											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	528						15	528	---	---	---	---	-	53529195	GAT	-	53529193	7	5	52	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-FB-AAQ0-01A-31D-A40W-08	1089912	53529193	144493237	22	6379											
MORC1	27136	broad.mit.edu	37	chr3	108746697	108746697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatattgtgctcatggtGcccagtgggatggaaggtag	17	5	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:108746697G>T	ENST00000483760.1	-	17	1648	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	MORC1_ENST00000232603.5_Silent_p.G535G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCATGGTGCCCAGTGGGA	0.398																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1603-1605)ggC>ggA		MORC family CW-type zinc finger 1							158	147	151					3																	108746697		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108746697G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1605C>A	3.37:g.108746697G>T						MORC1_ENST00000483760.1_Silent_p.G535G	p.G535G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			17	1687	-			535						Silent	SNP	ENST00000483760.1	37	c.1605C>A																																																																																					0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	266	1	0	1.08611e-07	1	1.14229e-07	12	266					T	108746697	G	T	108746697	2	4	52	1	0	0	0	0	0	0	0	1	9742	1306	46	3		3	MORC1	3	108746697	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	55217504	108746697	89275733	23	6380											
ALG1L	200810	broad.mit.edu	37	chr3	125649457	125649457	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggccattttcttcatgtttCaccagctcatgtaaactgca	6	11	4	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	97							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CTTCATGTTTCACCAGCTCAT	0.597																																						ENST00000340333.3																			0				large_intestine(2)|lung(2)	4						c.(289-291)gtG>gtA		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like							51	55	53					3																	125649457		1368	2309	3677	SO:0001819	synonymous_variant	200810						transferase activity, transferring glycosyl groups	g.chr3:125649457C>T	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.291G>A	3.37:g.125649457C>T							p.V97V	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN			5	454	-			97					D3DNA5	Silent	SNP	ENST00000340333.3	37	c.291G>A	CCDS33840.1																																																																																				0.597	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		14	198	0	0	0	1	0	14	198					T	125649457	C	T	125649457	2	4	52	1	0	0	0	0	0	0	0	1	517	813	29	2		2	ALG1L	3	125649457	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	16902760	125649457	72372973	24	6381											
CNBP	7555	broad.mit.edu	37	chr3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaattgtgcattcccGtgcaaggtgccctgactcgc	10	14	1	1	rs190320743		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(505-507)Cgg>Tgg		CCHC-type zinc finger, nucleic acid binding protein							177	165	169					3																	128889325		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889325G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.505C>T	3.37:g.128889325G>A	ENSP00000410619:p.Arg169Trp					CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W	p.R169W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			5	665	-			169					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.505C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570676	0.65765	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.128051	0.52532	D	0.000070	D	0.83589	0.5287	M	0.82823	2.61	0.58432	D	0.999993	D;D;D	0.76494	0.994;0.993;0.999	P;P;D	0.72338	0.837;0.821;0.977	D	0.84859	0.0818	9	0.87932	D	0	-16.7435	18.1659	0.89727	0.0:0.0:1.0:0.0	.	152;162;169	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	W	162;169;170;164;152;159;171	.	ENSP00000410619:R169W	R	-	1	2	CNBP	130372015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.894000	0.99253	0.591000	0.81541	CGG		0.448	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		6	757	0	0	0	1	0	6	757					A	128889325	G	A	128889325	3	1	52	1	0	0	0	0	1	0	0	0	3601	1144	40	1	32	1	CNBP	3	128889325	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3239868	128889325	69133105	25	6382											
TRIM42	287015	broad.mit.edu	37	chr3	140406735	140406735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagagaatctagaagtgtCcaggcagaaggaaattgaaa	12	4	1	4			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:140406735C>T	ENST00000286349.3	+	3	1402	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	404						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTAGAAGTGTCCAGGCAGAAG	0.433																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1210-1212)tCc>tTc		tripartite motif containing 42							100	98	99					3																	140406735		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406735C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1211C>T	3.37:g.140406735C>T	ENSP00000286349:p.Ser404Phe						p.S404F	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1402	+			404					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1211C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134764	0.37728	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.33	3.43	0.39272	.	0.666605	0.14463	N	0.318026	T	0.19525	0.0469	N	0.08118	0	0.28555	N	0.911407	B	0.33379	0.41	B	0.28916	0.096	T	0.03784	-1.1004	10	0.56958	D	0.05	-11.2766	5.5628	0.17154	0.1968:0.7047:0.0:0.0985	.	404	Q8IWZ5	TRI42_HUMAN	F	404	ENSP00000286349:S404F	ENSP00000286349:S404F	S	+	2	0	TRIM42	141889425	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	1.214000	0.32419	2.676000	0.91093	0.555000	0.69702	TCC		0.433	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		89	220	0	0	0	1	0	89	220					T	140406735	C	T	140406735	3	4	52	1	0	0	0	0	1	0	0	0	16570	855	30	2	1221	2	TRIM42	3	140406735	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	11517410	140406735	57615695	26	6383											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	743						8	743	---	---	---	---	-	150877786	C	-	150877786	7	5	52	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-FB-AAQ0-01A-31D-A40W-08	10471051	150877786	47144644	27	6384											
DHX36	170506	broad.mit.edu	37	chr3	154018452	154018452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaactttatcatcctccatCatttctataacatctacagt	1	12	5	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:154018452C>T	ENST00000496811.1	-	11	1472	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	464					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATCCTCCATCATTTCTATAA	0.313																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1390-1392)atG>atA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							121	116	118					3																	154018452		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018452C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1392G>A	3.37:g.154018452C>T	ENSP00000417078:p.Met464Ile					DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		11	1472	-			464					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1392G>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785057	0.31593	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.75	5.75	0.90469	.	0.149837	0.85682	D	0.000000	T	0.02533	0.0077	L	0.31526	0.94	0.40269	D	0.978263	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.58364	-0.7649	10	0.21014	T	0.42	.	15.0769	0.72084	0.1418:0.8582:0.0:0.0	.	464;464;464	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	464;464;464;464;378	ENSP00000417078:M464I;ENSP00000309296:M464I;ENSP00000444247:M464I;ENSP00000330113:M464I;ENSP00000419862:M378I	ENSP00000309296:M464I	M	-	3	0	DHX36	155501146	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.423000	0.52756	2.866000	0.98385	0.650000	0.86243	ATG		0.313	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		29	347	0	0	0	1	0	29	347					T	154018452	C	T	154018452	3	4	52	1	0	0	0	0	1	0	0	0	4525	826	29	2	1694	2	DHX36	3	154018452	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	3140666	154018452	44003978	28	6385											
GBA3	57733	broad.mit.edu	37	chr4	22737642	22737642	+	RNA	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaaggcccttgtgtctggGacacatttactcatcaggga	11	9	3	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:22737642G>T	ENST00000503442.1	+	0	188				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTGTCTGGGACACATTTAC	0.448																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							112	115	114					4																	22737642		1931	4143	6074			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737642G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737642G>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	188	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.448	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			75	136	1	0	7.577e-32	1	8.35296e-32	75	136					T	22737642	G	T	22737642	1	4	52	0	1	0	0	0	0	0	0	0	6296	1174	41	3		3	GBA3	4	22737642	RNA	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		22737642	168416634	29	6386											
GRID2	2895	broad.mit.edu	37	chr4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggactttacgacacGttacatggactactcagtgg	12	8	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					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)			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)		TTTACGACACGTTACATGGAC	0.443																																						ENST00000282020.4																			0				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						c.(1615-1617)cGt>cAt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						160	144	149					4																	94376883		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.chr4:94376883G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1616G>A	4.37:g.94376883G>A	ENSP00000282020:p.Arg539His					GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	p.R539H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1874	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	539					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1616G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086141	0.94100	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59198	-0.7499	10	0.66056	D	0.02	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	444;539	E9PH24;O43424	.;GRID2_HUMAN	H	539;444	ENSP00000282020:R539H;ENSP00000421257:R444H	ENSP00000282020:R539H	R	+	2	0	GRID2	94595906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			9	386	0	0	0	1	0	9	386					A	94376883	G	A	94376883	3	1	52	1	0	0	0	0	1	0	0	0	6802	1145	40	1	1658	1	GRID2	4	94376883	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	71639241	94376883	96777393	30	6387											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			8	121	0	0	0	1	0	8	121					T	140811108	C	T	140811108	2	4	52	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	46434225	140811108	50343168	31	6388											
TBC1D9	23158	broad.mit.edu	37	chr4	141543578	141543578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgtgccctggccgctcCgcaccaggaccgtgtcctct	11	20	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:141543578C>T	ENST00000442267.2	-	21	3646	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1191							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGCTCCGCACCAGGAC	0.662																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3571-3573)cGg>cAg		TBC1 domain family, member 9 (with GRAM domain)							30	36	34					4																	141543578		2097	4196	6293	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543578C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3572G>A	4.37:g.141543578C>T	ENSP00000411197:p.Arg1191Gln						p.R1191Q	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3646	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1191					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3572G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101168	0.56183	.	.	ENSG00000109436	ENST00000442267	T	0.07908	3.15	5.01	4.17	0.49024	.	0.055070	0.85682	D	0.000000	T	0.03959	0.0111	N	0.12182	0.205	0.58432	D	0.999999	D	0.57257	0.979	B	0.36378	0.223	T	0.53380	-0.8447	10	0.13108	T	0.6	.	13.3474	0.60582	0.0:0.9239:0.0:0.0761	.	1191	Q6ZT07	TBCD9_HUMAN	Q	1191	ENSP00000411197:R1191Q	ENSP00000411197:R1191Q	R	-	2	0	TBC1D9	141763028	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	5.760000	0.68793	1.109000	0.41680	0.655000	0.94253	CGG		0.662	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		11	115	0	0	0	1	0	11	115					T	141543578	C	T	141543578	3	4	52	1	0	0	0	0	1	0	0	0	15679	652	23	1	232	1	TBC1D9	4	141543578	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	732470	141543578	49610698	32	6389											
WDR70	55100	broad.mit.edu	37	chr5	37725121	37725121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactggatcccctgaagtcGcataaacctgaacctcctgt	8	13	0	3	rs373785223		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1681-1683)tcG>tcA		WD repeat domain 70		G		1,4405	2.1+/-5.4	0,1,2202	114	111	112		1683	-7.6	0.7	5		112	0,8600		0,0,4300	no	coding-synonymous	WDR70	NM_018034.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/655	37725121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37725121G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1683G>A	5.37:g.37725121G>A							p.S561S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1839	+	all_lung(31;0.000285)		561					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1683G>A	CCDS34147.1																																																																																				0.527	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		5	459	0	0	0	1	0	5	459					A	37725121	G	A	37725121	2	1	52	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WDR70	5	37725121	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		37725121	143190139	33	6390											
PCDHB13	56123	broad.mit.edu	37	chr5	140594777	140594777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaatacctgagaacgCgcctgaaactgtggttgcac	10	13	0	2	rs148992616		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:140594777C>T	ENST00000341948.4	+	1	1269	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A361V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAACGCGCCTGAAACT	0.448																																						ENST00000341948.4																			1	Substitution - Missense(1)	p.A361V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1081-1083)gCg>gTg									195	183	187					5																	140594777		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594777C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1082C>T	5.37:g.140594777C>T	ENSP00000345491:p.Ala361Val						p.A361V	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1269	+			361			Cadherin 4.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1082C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	16.74	3.206586	0.58343	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.5	2.59	0.31030	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08447	0.0210	M	0.66506	2.035	0.09310	N	1	P	0.48911	0.917	P	0.49252	0.604	T	0.15752	-1.0426	9	0.66056	D	0.02	.	8.1381	0.31067	0.0:0.7799:0.0:0.2201	.	361	Q9Y5F0	PCDBD_HUMAN	V	361	ENSP00000345491:A361V	ENSP00000345491:A361V	A	+	2	0	PCDHB13	140574961	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	1.135000	0.31454	0.550000	0.28991	0.298000	0.19748	GCG		0.448	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		28	1028	0	0	0	1	0	28	1028					T	140594777	C	T	140594777	3	4	52	1	0	0	0	0	1	0	0	0	11580	768	27	1	1084	1	PCDHB13	5	140594777	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	102869656	140594777	40320483	34	6391											
TAP1	6890	broad.mit.edu	37	chr6	32820990	32820990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccgctgcataactgaCaacgaaggcggtagggtgac	14	10	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:32820990C>T	ENST00000354258.4	-	1	765	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	202					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCATAACTGACAACGAAGGCG	0.657																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(604-606)Gtc>Atc		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							25	22	23					6																	32820990		1509	2708	4217	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32820990C>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.604G>A	6.37:g.32820990C>T	ENSP00000346206:p.Val202Ile					PSMB9_ENST00000395330.1_Intron	p.V202I	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			1	765	-			202					Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.604G>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341922	0.24339	.	.	ENSG00000168394	ENST00000354258	D	0.86865	-2.18	4.34	0.387	0.16259	.	2.688260	0.01391	N	0.013250	T	0.55513	0.1925	N	0.14661	0.345	0.50632	D	0.999887	B	0.12013	0.005	B	0.04013	0.001	T	0.54344	-0.8308	10	0.15499	T	0.54	.	3.2607	0.06848	0.097:0.3375:0.4054:0.1601	.	202	Q03518	TAP1_HUMAN	I	202	ENSP00000346206:V202I	ENSP00000346206:V202I	V	-	1	0	TAP1	32928968	0.868000	0.29978	0.048000	0.18961	0.012000	0.07955	0.734000	0.26101	-0.139000	0.11414	-0.185000	0.12909	GTC		0.657	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		6	56	0	0	0	1	0	6	56					T	32820990	C	T	32820990	3	4	52	1	0	0	0	0	1	0	0	0	15602	478	17	2	1866	2	TAP1	6	32820990	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		32820990	138294077	35	6392											
SLC35B2	347734	broad.mit.edu	37	chr6	44223304	44223304	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtccgtaaagcgctcAcccggtgatgtggctgtggc	15	11	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:44223304A>T	ENST00000393812.3	-	4	581	c.438T>A	c.(436-438)ggT>ggA	p.G146G	SLC35B2_ENST00000393810.1_Nonstop_Mutation_p.*95R|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	146					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAAGCGCTCACCCGGTGATG	0.572																																						ENST00000393810.1																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(283-285)Tga>Aga		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							88	86	86					6																	44223304		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44223304A>T	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.438T>A	6.37:g.44223304A>T						SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000393812.3_Silent_p.G146G|SLC35B2_ENST00000537814.1_Silent_p.G13G	p.*95R			Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	426	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		0					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Nonstop_Mutation	SNP	ENST00000393812.3	37	c.283T>A	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	A	0.730	-0.780181	0.02929	.	.	ENSG00000157593	ENST00000393810	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7141	1.3736	0.02215	0.1841:0.2603:0.2932:0.2624	.	.	.	.	R	95	.	.	X	-	1	0	SLC35B2	44331282	0.000000	0.05858	0.182000	0.23118	0.791000	0.44710	-3.600000	0.00418	-2.176000	0.00770	-0.379000	0.06801	TGA		0.572	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			103	204	0	0	0	1	0	103	204					T	44223304	A	T	44223304	2	4	52	1	0	0	0	0	0	0	0	1	14626	146	6	5		5	SLC35B2	6	44223304	Silent	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	11402314	44223304	126891763	36	6393											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0	rs563987595	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0.0	5008	,	,		8050	0.002		0.0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		6	147	0	0	0	1	0	6	147					G	45390445	A	G	45390445	2	3	52	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	1167141	45390445	125724622	37	6394											
MDN1	23195	broad.mit.edu	37	chr6	90432759	90432759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataacacccaggggactggTcaaccagcatcaactgacac	8	14	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:90432759T>C	ENST00000369393.3	-	40	5997	c.5882A>G	c.(5881-5883)gAc>gGc	p.D1961G	MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1961					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGGACTGGTCAACCAGCAT	0.478																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5881-5883)gAc>gGc		MDN1, midasin homolog (yeast)							150	165	160					6																	90432759		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432759T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5882A>G	6.37:g.90432759T>C	ENSP00000358400:p.Asp1961Gly					MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G	p.D1961G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5997	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1961					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5882A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114971	0.56505	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39997	1.05;1.05	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	L	0.56769	1.78	0.80722	D	1	B	0.19200	0.034	B	0.27076	0.076	T	0.10177	-1.0641	10	0.36615	T	0.2	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1961	Q9NU22	MDN1_HUMAN	G	1961	ENSP00000358400:D1961G;ENSP00000413970:D1961G	ENSP00000358400:D1961G	D	-	2	0	MDN1	90489480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.367000	0.80283	0.528000	0.53228	GAC		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	805	0	0	0	1	0	7	805					C	90432759	T	C	90432759	3	2	52	1	0	0	0	0	1	0	0	0	9456	1667	58	4	11160	4	MDN1	6	90432759	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	45042314	90432759	80682308	38	6395											
UTRN	7402	broad.mit.edu	37	chr6	144759999	144759999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggatgatgatgtaAaatctctacaaaagctgcta	8	10	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:144759999A>C	ENST00000367545.3	+	11	1360	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	454	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGATGTAAAATCTCTACA	0.433																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1360-1362)Aaa>Caa		utrophin							89	87	88					6																	144759999		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144759999A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1360A>C	6.37:g.144759999A>C	ENSP00000356515:p.Lys454Gln						p.K454Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	11	1360	+		Ovarian(120;0.218)	454			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1360A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	3.826	-0.036673	0.07497	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47869	0.83	5.41	-8.38	0.00973	.	1.903270	0.02816	N	0.124960	T	0.07143	0.0181	N	0.00926	-1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.11329	0.006	T	0.09487	-1.0672	10	0.26408	T	0.33	.	16.917	0.86154	0.1863:0.6844:0.1293:0.0	.	454	P46939	UTRO_HUMAN	Q	454	ENSP00000356515:K454Q	ENSP00000356499:K454Q	K	+	1	0	UTRN	144801692	0.904000	0.30761	0.000000	0.03702	0.000000	0.00434	0.546000	0.23284	-1.159000	0.02807	-1.164000	0.01763	AAA		0.433	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			65	148	0	0	0	1	0	65	148					C	144759999	A	C	144759999	3	2	52	1	0	0	0	0	1	0	0	0	17157	15	1	4	1402	4	UTRN	6	144759999	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	54327240	144759999	26355068	39	6396											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		6	437	0	0	0	1	0	6	437					A	150715311	G	A	150715311	3	1	52	1	0	0	0	0	1	0	0	0	7962	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	5955312	150715311	20399756	40	6397											
TIAM2	26230	broad.mit.edu	37	chr6	155575617	155575617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagggagaacttcaggCgtcacataaagtgtgaatta	11	6	3	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:155575617C>T	ENST00000461783.3	+	28	5651	c.4378C>T	c.(4378-4380)Cgt>Tgt	p.R1460C	TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1460	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAACTTCAGGCGTCACATAAA	0.458																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4378-4380)Cgt>Tgt		T-cell lymphoma invasion and metastasis 2							150	132	138					6																	155575617		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155575617C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4378C>T	6.37:g.155575617C>T	ENSP00000437188:p.Arg1460Cys					TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C	p.R1460C			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	28	5651	+		Ovarian(120;0.196)	1460			PH 2.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4378C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400918	0.83120	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.13778	3.1;2.94;3.1;2.91;3.04;2.94;2.92;2.69;2.56	5.66	4.77	0.60923	.	0.051437	0.85682	D	0.000000	T	0.25382	0.0617	M	0.66939	2.045	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.994	T	0.03077	-1.1075	10	0.72032	D	0.01	.	14.0455	0.64702	0.151:0.849:0.0:0.0	.	796;1489;1484;1460	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	C	1460;1706;1489;1460;836;1484;1489;772;796;385	ENSP00000437188:R1460C;ENSP00000407746:R1489C;ENSP00000327315:R1460C;ENSP00000356142:R836C;ENSP00000353528:R1484C;ENSP00000433348:R1489C;ENSP00000407183:R772C;ENSP00000435335:R796C;ENSP00000275246:R385C	ENSP00000275246:R385C	R	+	1	0	TIAM2	155617309	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.413000	0.59795	1.342000	0.45619	0.650000	0.86243	CGT		0.458	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		81	226	0	0	0	1	0	81	226					T	155575617	C	T	155575617	3	4	52	1	0	0	0	0	1	0	0	0	15943	768	27	1	4468	1	TIAM2	6	155575617	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	4860306	155575617	15539450	41	6398											
IGF2R	3482	broad.mit.edu	37	chr6	160517606	160517606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagttcagtcacgagactgCcgactgccagtacctcttct	9	14	4	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:160517606C>T	ENST00000356956.1	+	45	6939	c.6791C>T	c.(6790-6792)gCc>gTc	p.A2264V	IGF2R_ENST00000475584.1_3'UTR|RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2264					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CACGAGACTGCCGACTGCCAG	0.537																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6790-6792)gCc>gTc		insulin-like growth factor 2 receptor							169	140	150					6																	160517606		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160517606C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6791C>T	6.37:g.160517606C>T	ENSP00000349437:p.Ala2264Val					IGF2R_ENST00000475584.1_3'UTR	p.A2264V	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6939	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2264					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6791C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481500	0.63849	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.69	4.82	0.62117	Mannose-6-phosphate receptor, binding (1);	0.169864	0.51477	D	0.000085	T	0.02571	0.0078	M	0.83692	2.655	0.35229	D	0.776725	P	0.43231	0.801	B	0.41036	0.346	T	0.48896	-0.8994	10	0.30078	T	0.28	-15.7351	16.1287	0.81412	0.1347:0.8653:0.0:0.0	.	2264	P11717	MPRI_HUMAN	V	2264	ENSP00000349437:A2264V	ENSP00000349437:A2264V	A	+	2	0	IGF2R	160437596	1.000000	0.71417	0.963000	0.40424	0.347000	0.29111	5.962000	0.70364	1.389000	0.46526	-0.169000	0.13324	GCC		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		5	381	0	0	0	1	0	5	381					T	160517606	C	T	160517606	3	4	52	1	0	0	0	0	1	0	0	0	7606	739	26	2	6969	2	IGF2R	6	160517606	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	4941989	160517606	10597461	42	6399											
LRRC17	10234	broad.mit.edu	37	chr7	102585031	102585031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcaaagaagcaaagcGtaataattactatagtagga	8	7	0	1	rs117261467	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:102585031G>A	ENST00000339431.4	+	4	1598	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	435					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGCAAAGCGTAATAATTAC	0.318													G|||	2	0.000399361	0.0	0.0	5008	,	,		19988	0.0		0.001	False		,,,				2504	0.001					ENST00000339431.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1303-1305)Gta>Ata		leucine rich repeat containing 17		G	ILE/VAL,,,	0,4406		0,0,2203	63	64	64		1303,,,	6	1	7	dbSNP_133	64	14,8586	10.5+/-38.8	0,14,4286	yes	missense,intron,utr-3,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	29,,,	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	possibly-damaging,,,	435/442,,,	102585031	14,12992	2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102585031G>A	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1303G>A	7.37:g.102585031G>A	ENSP00000344242:p.Val435Ile					FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR	p.V435I	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN			4	1598	+			435					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.1303G>A	CCDS34721.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.8	4.337605	0.81911	0.0	0.001628	ENSG00000128606	ENST00000339431	T	0.59638	0.25	6.03	6.03	0.97812	.	0.000000	0.52532	D	0.000068	T	0.58061	0.2096	M	0.62723	1.935	0.80722	D	1	D	0.58268	0.982	B	0.41374	0.355	T	0.57183	-0.7855	10	0.27785	T	0.31	-22.2805	20.5568	0.99304	0.0:0.0:1.0:0.0	.	435	Q8N6Y2	LRC17_HUMAN	I	435	ENSP00000344242:V435I	ENSP00000344242:V435I	V	+	1	0	LRRC17	102372267	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.860000	0.55995	2.861000	0.98227	0.655000	0.94253	GTA		0.318	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		73	229	0	0	0	1	0	73	229					A	102585031	G	A	102585031	3	1	52	1	0	0	0	0	1	0	0	0	9011	1145	40	1	1331	1	LRRC17	7	102585031	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		102585031	56553632	43	6400											
OR9A4	130075	broad.mit.edu	37	chr7	141618819	141618819	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtcatcatcatgattgtCtgtgtggataaacgtctgca	9	8	5	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:141618819C>T	ENST00000548136.1	+	1	203	c.144C>T	c.(142-144)gtC>gtT	p.V48V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATGATTGTCTGTGTGGATA	0.453																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(142-144)gtC>gtT		olfactory receptor, family 9, subfamily A, member 4							186	192	190					7																	141618819		2203	4300	6503	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618819C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.144C>T	7.37:g.141618819C>T						MGAM_ENST00000497554.1_Intron	p.V48V	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	203	+	Melanoma(164;0.0171)		48					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.144C>T	CCDS43661.1																																																																																				0.453	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		20	690	0	0	0	1	0	20	690					T	141618819	C	T	141618819	2	4	52	1	0	0	0	0	0	0	0	1	11291	900	32	2		2	OR9A4	7	141618819	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	39033788	141618819	17519844	44	6401											
MLL3	58508	broad.mit.edu	37	chr7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccgctttcctggaaatccaGacccacggccctatgtaaca	7	15	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2																			0											c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32	33	33					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F							16	2881	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	262	0	0	0	1	0	13	262					A	151933008	G	A	151933008	3	1	52	1	0	0	0	0	1	0	0	0	9663	942	33	2	12248	2	MLL3	7	151933008	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	10314189	151933008	7205655	45	6402											
XKR4	114786	broad.mit.edu	37	chr8	56015735	56015735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatcgccgcggccaacagCggcagcaacagcagcggggc	14	15	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:56015735C>A	ENST00000327381.6	+	1	787	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	229						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGGCCAACAGCGGCAGCAACA	0.647																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(685-687)agC>agA		XK, Kell blood group complex subunit-related family, member 4							40	43	42					8																	56015735		2202	4297	6499	SO:0001583	missense	114786					integral to membrane		g.chr8:56015735C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.687C>A	8.37:g.56015735C>A	ENSP00000328326:p.Ser229Arg						p.S229R	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	787	+			229					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.687C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146600	0.21288	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	4.54	1.58	0.23477	.	0.630387	0.15645	N	0.251674	T	0.69522	0.3120	N	0.22421	0.69	0.26813	N	0.968955	B	0.27286	0.174	B	0.31751	0.135	T	0.53753	-0.8394	10	0.12103	T	0.63	-2.5041	9.169	0.37069	0.0:0.8629:0.0:0.1371	.	229	Q5GH76	XKR4_HUMAN	R	229	ENSP00000328326:S229R	ENSP00000328326:S229R	S	+	3	2	XKR4	56178289	0.971000	0.33674	0.997000	0.53966	0.916000	0.54674	0.523000	0.22925	0.117000	0.18138	0.555000	0.69702	AGC		0.647	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		63	169	1	0	8.95546e-19	1	9.75505e-19	63	169					A	56015735	C	A	56015735	3	1	52	1	0	0	0	0	1	0	0	0	17487	767	27	3	689	3	XKR4	8	56015735	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		56015735	90348287	46	6403											
CYP7A1	1581	broad.mit.edu	37	chr8	59404241	59404241	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgtagctcccgatccaaaGggcatgtagtaatactttaa	8	8	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:59404241G>C	ENST00000301645.3	-	6	1445	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	436					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGATCCAAAGGGCATGTAGT	0.353									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1306-1308)ccC>ccG		cytochrome P450, family 7, subfamily A, polypeptide 1							116	125	122					8																	59404241		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404241G>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1308C>G	8.37:g.59404241G>C							p.P436P	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			6	1445	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	436					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.1308C>G	CCDS6171.1																																																																																				0.353	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		219	445	0	0	0	1	0	219	445					C	59404241	G	C	59404241	2	2	52	1	0	0	0	0	0	0	0	1	4207	987	35	5		5	CYP7A1	8	59404241	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3388506	59404241	86959781	47	6404											
PREX2	80243	broad.mit.edu	37	chr8	69033248	69033248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcttcccagcagcgtcCggactcttgctcagaacatc	9	14	3	1	rs143386950		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:69033248C>T	ENST00000288368.4	+	30	3965	c.3688C>T	c.(3688-3690)Cgg>Tgg	p.R1230W		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	1230					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)			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						CAGCAGCGTCCGGACTCTTGC	0.383																																						ENST00000288368.4																			0				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						c.(3688-3690)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75	73	74		3688	5.8	1	8	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PREX2	NM_024870.2	101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	1230/1607	69033248	3,13003	2203	4300	6503	SO:0001583	missense	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.chr8:69033248C>T	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.3688C>T	8.37:g.69033248C>T	ENSP00000288368:p.Arg1230Trp						p.R1230W	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			30	3965	+			1230					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3688C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154857	0.94686	2.27E-4	2.33E-4	ENSG00000046889	ENST00000288368	T	0.37752	1.18	5.82	5.82	0.92795	.	0.203092	0.44483	D	0.000444	T	0.34279	0.0892	N	0.22421	0.69	0.52501	D	0.99995	P	0.48694	0.914	P	0.44561	0.453	T	0.14448	-1.0472	10	0.72032	D	0.01	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	1230	Q70Z35	PREX2_HUMAN	W	1230	ENSP00000288368:R1230W	ENSP00000288368:R1230W	R	+	1	2	PREX2	69195802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.666000	0.61554	2.752000	0.94435	0.655000	0.94253	CGG		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		120	238	0	0	0	1	0	120	238					T	69033248	C	T	69033248	3	4	52	1	0	0	0	0	1	0	0	0	12524	643	23	1	4035	1	PREX2	8	69033248	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	9629007	69033248	77330774	48	6405											
ZFHX4	79776	broad.mit.edu	37	chr8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctagaaaaatttgctcGtcaatacagggaggcctatg	11	8	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.R1983H(2)	lung(1)|pancreas(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5947-5949)cGt>cAt		zinc finger homeobox 4							53	53	53					8																	77765105		1889	4117	6006	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765105G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5948G>A	8.37:g.77765105G>A	ENSP00000430497:p.Arg1983His	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H	p.R1983H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6396	+			1938			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5948G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423068	0.43020	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.74;0.74	4.2	4.2	0.49525	.	0.000000	0.44483	U	0.000460	T	0.49966	0.1588	M	0.62723	1.935	0.43271	D	0.995226	P;P;P	0.46020	0.796;0.871;0.871	B;B;B	0.42361	0.215;0.385;0.385	T	0.60747	-0.7202	10	0.66056	D	0.02	.	17.142	0.86756	0.0:0.0:1.0:0.0	.	1938;1938;1983	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1983;1983;1938;1938;1957	ENSP00000430497:R1983H;ENSP00000399605:R1938H;ENSP00000050961:R1938H;ENSP00000430848:R1957H	ENSP00000050961:R1938H	R	+	2	0	ZFHX4	77927660	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.860000	0.69546	2.365000	0.80145	0.539000	0.68188	CGT		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		49	113	0	0	0	1	0	49	113					A	77765105	G	A	77765105	3	1	52	1	0	0	0	0	1	0	0	0	17688	1145	40	1	5982	1	ZFHX4	8	77765105	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	8731857	77765105	68598917	49	6406											
MLLT3	4300	broad.mit.edu	37	chr9	20414334	20414334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctgctactgctgctgct	12	14	0	0	rs553184543	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:20414334G>A	ENST00000380338.4	-	5	796	c.510C>T	c.(508-510)agC>agT	p.S170S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S167S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	170	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.537			T	MLL	ALL								G|||	2	0.000399361	0.0008	0.0	5008	,	,		12442	0.0		0.0	False		,,,				2504	0.001					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(508-510)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10	17	15					9																	20414334		1758	3576	5334	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414334G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.510C>T	9.37:g.20414334G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S167S	p.S170S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	796	-			170			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.510C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	488	0	0	0	1	0	7	488					A	20414334	G	A	20414334	2	1	52	1	0	0	0	0	0	0	0	1	9669	1310	46	2		2	MLLT3	9	20414334	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		20414334	120799097	50	6407											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		8	771						8	771	---	---	---	---	T	21007046	-	T	21007045	7	5	52	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ0-01A-31D-A40W-08	592711	21007045	120206386	51	6408											
LHX6	26468	broad.mit.edu	37	chr9	124967022	124967022	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcccacgggcagatgCggaagtgccggcagcgttag	19	11	0	1	rs374714258		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:124967022C>T	ENST00000373755.2	-	0	1217				LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000541397.2_Silent_p.P353P|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000340587.3_Silent_p.P364P	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|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)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCAGATGCGGAAGTGCCG	0.682																																						ENST00000340587.3																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(1090-1092)ccG>ccA		LIM homeobox 6							28	31	30					9																	124967022		2203	4299	6502	SO:0001624	3_prime_UTR_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124967022C>T	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.*17G>A	9.37:g.124967022C>T						LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000541397.2_Silent_p.P353P	p.P364P	NM_199160.3	NP_954629.2	Q9UPM6	LHX6_HUMAN			9	1292	-			0					A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.1092G>A	CCDS56583.1																																																																																				0.682	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		30	25	0	0	0	1	0	30	25					T	124967022	C	T	124967022	1	4	52	0	1	0	0	0	0	0	0	0	8807	755	27	1		1	LHX6	9	124967022	3'UTR	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	103959977	124967022	16246409	52	6409											
C9orf69	90120	broad.mit.edu	37	chr9	139008444	139008446	+	In_Frame_Del	DEL	CAG	CAG	-													aagtccacgcgccggcggccCagcagcagcagcagcaccga							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139008444_139008446delCAG	ENST00000418388.1	-	2	803_805	c.301_303delCTG	c.(301-303)ctgdel	p.L101del	C9orf69_ENST00000561457.1_In_Frame_Del_p.C125del			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	101					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685																																						ENST00000561457.1																			0				endometrium(1)	1						c.(373-378)tgg>tg		chromosome 9 open reading frame 69				105,3965		8,89,1938						5.1	1			23	180,7946		12,156,3895	no	coding	C9orf69	NM_152833.2		20,245,5833	A1A1,A1R,RR		2.2151,2.5799,2.3368				285,11911				SO:0001651	inframe_deletion	90120							g.chr9:139008444_139008446delCAG		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.301_303delCTG	9.37:g.139008453_139008455delCAG	ENSP00000453019:p.Leu101del					C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del	p.CW125del	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	825_827	-		Myeloproliferative disorder(178;0.0511)							In_Frame_Del	DEL	ENST00000418388.1	37	c.375_377delCTG	CCDS59155.1																																																																																				0.685	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		7	105						7	105	---	---	---	---	-	139008446	CAG	-	139008444	7	5	52	1	0	1	0	1	0	0	0	0	2499	595	21	0	34	0	C9orf69	9	139008444	In_Frame_Del	DEL	CAG	TCGA-FB-AAQ0-01A-31D-A40W-08	14041422	139008444	2204987	53	6410											
C9orf139	401563	broad.mit.edu	37	chr9	139929195	139929195	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccatccttcctgttTgtgctgccaggctggcaggg	13	13	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139929195T>A	ENST00000314330.2	+	3	1776	c.262T>A	c.(262-264)Tgt>Agt	p.C88S	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	88										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCTTCCTGTTTGTGCTGCCAG	0.677																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(262-264)Tgt>Agt		chromosome 9 open reading frame 139							49	54	52					9																	139929195		2200	4294	6494	SO:0001583	missense	401563							g.chr9:139929195T>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.262T>A	9.37:g.139929195T>A	ENSP00000318119:p.Cys88Ser						p.C88S	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1776	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	88					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.262T>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	t	9.954	1.221083	0.22457	.	.	ENSG00000180539	ENST00000314330	T	0.55052	0.54	2.95	2.95	0.34219	.	.	.	.	.	T	0.41834	0.1176	N	0.08118	0	0.24195	N	0.995533	P	0.50272	0.933	P	0.52909	0.713	T	0.19257	-1.0311	9	0.87932	D	0	.	7.6935	0.28581	0.0:0.0:0.0:1.0	.	88	Q6ZV77	CI139_HUMAN	S	88	ENSP00000318119:C88S	ENSP00000318119:C88S	C	+	1	0	C9orf139	139049016	0.991000	0.36638	0.956000	0.39512	0.072000	0.16883	2.380000	0.44327	1.588000	0.49971	0.241000	0.17934	TGT		0.677	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		175	178	0	0	0	1	0	175	178					A	139929195	T	A	139929195	3	1	52	1	0	0	0	0	1	0	0	0	2466	1812	63	5	268	5	C9orf139	9	139929195	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	920751	139929195	1284236	54	6411											
ZNF485	220992	broad.mit.edu	37	chr10	44104721	44104721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcttctctcttccaaacCaaaactaattactcagttgg	6	11	3	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:44104721C>A	ENST00000361807.3	+	4	364	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TCTTCCAAACCAAAACTAATT	0.468																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(169-171)cCa>cAa		zinc finger protein 485							48	46	47					10																	44104721		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104721C>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.170C>A	10.37:g.44104721C>A	ENSP00000354694:p.Pro57Gln					ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q	p.P57Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			4	364	+			57			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.170C>A	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980972	0.34942	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00986	5.47;5.47;5.47	3.04	2.11	0.27256	Krueppel-associated box (3);	.	.	.	.	T	0.01695	0.0054	M	0.76328	2.33	0.80722	D	1	B	0.31548	0.328	B	0.34138	0.176	T	0.53732	-0.8397	9	0.52906	T	0.07	.	7.8094	0.29221	0.0:0.8675:0.0:0.1325	.	57	Q8NCK3	ZN485_HUMAN	Q	57	ENSP00000354694:P57Q;ENSP00000393570:P57Q;ENSP00000363558:P57Q	ENSP00000354694:P57Q	P	+	2	0	ZNF485	43424727	0.395000	0.25254	0.629000	0.29254	0.510000	0.34073	0.455000	0.21843	0.599000	0.29845	0.455000	0.32223	CCA		0.468	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		4	189	1	0	0.00909568	1	0.00919618	4	189					A	44104721	C	A	44104721	3	1	52	1	0	0	0	0	1	0	0	0	17991	594	21	3	180	3	ZNF485	10	44104721	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		44104721	91430026	55	6412											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389939	93389939	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtaagaaatgcagaaCtcaattttctgctcagttgg	10	7	3	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:93389939C>G	ENST00000238994.5	-	2	783	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AAATGCAGAACTCAATTTTCT	0.408																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(697-699)gaG>gaC		protein phosphatase 1, regulatory subunit 3C							98	91	93					10																	93389939		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93389939C>G	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.699G>C	10.37:g.93389939C>G	ENSP00000238994:p.Glu233Asp						p.E233D	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	783	-		Colorectal(252;0.235)	233			CBM21.|Interaction with EPM2A.			Missense_Mutation	SNP	ENST00000238994.5	37	c.699G>C	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493100	0.64186	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.65916	-0.18	5.73	4.82	0.62117	Putative phosphatase regulatory subunit (2);	0.054846	0.64402	D	0.000001	T	0.78641	0.4315	M	0.87097	2.86	0.58432	D	0.999993	D	0.71674	0.998	D	0.87578	0.998	T	0.79315	-0.1854	10	0.48119	T	0.1	-33.3203	8.699	0.34314	0.0:0.7879:0.0:0.2121	.	233	Q9UQK1	PPR3C_HUMAN	D	233;213;115	ENSP00000238994:E233D	ENSP00000238994:E233D	E	-	3	2	PPP1R3C	93379919	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.666000	0.25097	2.699000	0.92147	0.655000	0.94253	GAG		0.408	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		9	484	0	0	0	1	0	9	484					G	93389939	C	G	93389939	3	3	52	1	0	0	0	0	1	0	0	0	12420	564	20	5	258	5	PPP1R3C	10	93389939	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	49285218	93389939	42144808	56	6413											
TACC2	10579	broad.mit.edu	37	chr10	123988974	123988974	+	Frame_Shift_Del	DEL	C	C	-													cccgacttagcagaaaagaaCcccccactattcgctcagaa					rs147846497		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:123988974delC	ENST00000369005.1	+	15	8350	c.8010delC	c.(8008-8010)aacfs	p.N2670fs	TACC2_ENST00000513429.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.N2670fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369004.3_Frame_Shift_Del_p.N760fs|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000368999.1_Frame_Shift_Del_p.N760fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2670					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGAAAAGAACCCCCCACTAT	0.542																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8008-8010)aafs		transforming, acidic coiled-coil containing protein 2							268	281	277					10																	123988974		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123988974delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8010delC	10.37:g.123988974delC	ENSP00000358001:p.Asn2670fs					TACC2_ENST00000369004.3_Frame_Shift_Del_p.N760fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.N760fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.N2670fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.N816fs|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000260733.3_Frame_Shift_Del_p.N748fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000515603.1_Intron	p.N2670fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			15	8350	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2670					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.8010delC	CCDS7626.1																																																																																				0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	2219						8	2219	---	---	---	---	-	123988974	C	-	123988974	7	5	52	1	0	1	0	1	0	0	0	0	15554	506	18	0	8136	0	TACC2	10	123988974	Frame_Shift_Del	DEL	C	TCGA-FB-AAQ0-01A-31D-A40W-08	30599035	123988974	11545773	57	6414											
C10orf90	118611	broad.mit.edu	37	chr10	128193207	128193207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaaagatctctgatgccGacctggatgggcgccattgg	14	10	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:128193207G>A	ENST00000284694.7	-	3	682	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	188	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGATGCCGACCTGGATGG	0.627											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(562-564)Cgg>Tgg		chromosome 10 open reading frame 90							57	64	61					10																	128193207		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193207G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.562C>T	10.37:g.128193207G>A	ENSP00000284694:p.Arg188Trp		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W|C10orf90_ENST00000368674.1_5'UTR	p.R188W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	682	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	188					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.562C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723044	0.30503	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.26067	2.07;2.07;2.07;2.07;1.76	5.0	0.832	0.18867	.	2.152830	0.01694	N	0.026794	T	0.21427	0.0516	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.21381	0.041;0.041;0.055;0.015;0.022	B;B;B;B;B	0.12156	0.005;0.005;0.007;0.003;0.007	T	0.23868	-1.0176	10	0.45353	T	0.12	1.6789	7.9472	0.29993	0.1028:0.5018:0.3954:0.0	.	285;285;141;188;188	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	W	141;188;188;285;188;141;141	ENSP00000284694:R188W;ENSP00000398786:R188W;ENSP00000444369:R285W;ENSP00000405995:R188W;ENSP00000376459:R141W	ENSP00000284694:R188W	R	-	1	2	C10orf90	128183197	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.302000	0.08221	-0.005000	0.14395	0.655000	0.94253	CGG		0.627	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		6	555	0	0	0	1	0	6	555					A	128193207	G	A	128193207	3	1	52	1	0	0	0	0	1	0	0	0	1628	1057	37	1	1565	1	C10orf90	10	128193207	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	4204233	128193207	7341540	58	6415											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctccggctgtggaggctGtggctctggctgtgggggct	20	9	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(91-93)tGt>tTt		keratin associated protein 5-5							22	33	29					11																	1651162		2072	4152	6224	SO:0001583	missense	439915					keratin filament		g.chr11:1651162G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.92G>T	11.37:g.1651162G>T	ENSP00000382584:p.Cys31Phe						p.C31F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	130	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	31	C -> R (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.92G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261628	0.05791	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.02067	4.47	2.25	-0.0385	0.13880	.	.	.	.	.	T	0.04861	0.0131	M	0.84773	2.715	0.09310	N	1	P	0.44734	0.842	B	0.41571	0.36	T	0.22661	-1.0210	9	0.46703	T	0.11	.	7.6289	0.28228	0.0:0.5258:0.4742:0.0	.	31	Q701N2	KRA55_HUMAN	F	31;29	ENSP00000382584:C31F	ENSP00000382584:C31F	C	+	2	0	KRTAP5-5	1607738	0.996000	0.38824	0.001000	0.08648	0.090000	0.18270	3.139000	0.50577	0.010000	0.14839	0.448000	0.29417	TGT		0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			6	329	1	0	0.00448238	1	0.00458255	6	329					T	1651162	G	T	1651162	3	4	52	1	0	0	0	0	1	0	0	0	8595	1377	48	3	94	3	KRTAP5-5	11	1651162	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		1651162	133355354	59	6416											
DENND5A	23258	broad.mit.edu	37	chr11	9199797	9199799	+	In_Frame_Del	DEL	ATC	ATC	-													acccggagtacagggtctttAtcatcatcatcatgacacat					rs371085395		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:9199797_9199799delATC	ENST00000328194.3	-	8	2106_2108	c.1786_1788delGAT	c.(1786-1788)gatdel	p.D596del	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_In_Frame_Del_p.D596del	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	596	Poly-Asp.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGGGTCTTTATCATCATCATCA	0.453																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1786-1788)del		DENN/MADD domain containing 5A																																				SO:0001651	inframe_deletion	23258							g.chr11:9199797_9199799delATC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1786_1788delGAT	11.37:g.9199806_9199808delATC	ENSP00000328524:p.Asp596del					DENND5A_ENST00000530044.1_In_Frame_Del_p.D596del	p.D596del	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			8	2106_2108	-			596			Poly-Asp.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	In_Frame_Del	DEL	ENST00000328194.3	37	c.1786_1788delGAT	CCDS31423.1																																																																																				0.453	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		8	723						8	723	---	---	---	---	-	9199799	ATC	-	9199797	7	5	52	1	0	1	0	1	0	0	0	0	4452	446	16	0	2139	0	DENND5A	11	9199797	In_Frame_Del	DEL	ATC	TCGA-FB-AAQ0-01A-31D-A40W-08	7548635	9199797	125806719	60	6417											
QSER1	79832	broad.mit.edu	37	chr11	32956817	32956817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgtctgaaactggcgGtaacagtccatcagataaag	10	7	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:32956817G>A	ENST00000399302.2	+	4	3961	c.3626G>A	c.(3625-3627)gGt>gAt	p.G1209D	QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1209										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAAACTGGCGGTAACAGTCCA	0.423																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3625-3627)gGt>gAt		glutamine and serine rich 1							121	119	120					11																	32956817		1868	4102	5970	SO:0001583	missense	79832							g.chr11:32956817G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3626G>A	11.37:g.32956817G>A	ENSP00000382241:p.Gly1209Asp					QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	p.G1209D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3961	+	Breast(20;0.158)		1209					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3626G>A	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.800|1.800	-0.477377|-0.477377	0.04414|0.04414	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.25912|.	2.1;1.77|.	5.31|5.31	-3.69|-3.69	0.04450|0.04450	.|.	1.567240|.	0.03777|.	N|.	0.260673|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B;B|.	0.14438|.	0.01;0.007;0.0|.	B;B;B|.	0.16722|.	0.016;0.005;0.001|.	T|T	0.35992|0.35992	-0.9766|-0.9766	10|5	0.51188|.	T|.	0.08|.	.|.	1.3943|1.3943	0.02257|0.02257	0.192:0.2993:0.2876:0.2211|0.192:0.2993:0.2876:0.2211	.|.	970;970;1209|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	D|I	1209;970;970|230	ENSP00000382241:G1209D;ENSP00000432766:G970D|.	ENSP00000078652:G970D|.	G|V	+|+	2|1	0|0	QSER1|QSER1	32913393|32913393	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.313000|-0.313000	0.08103|0.08103	-0.633000|-0.633000	0.05545|0.05545	0.467000|0.467000	0.42956|0.42956	GGT|GTA		0.423	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		7	731	0	0	0	1	0	7	731					A	32956817	G	A	32956817	3	1	52	1	0	0	0	0	1	0	0	0	12932	1261	44	2	3632	2	QSER1	11	32956817	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	23757020	32956817	102049699	61	6418											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		11	639						11	639	---	---	---	---	-	77069992	CAT	-	77069990	7	5	52	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-FB-AAQ0-01A-31D-A40W-08	44113173	77069990	57936526	62	6419											
DYNC2H1	79659	broad.mit.edu	37	chr11	103057008	103057008	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatctcctccagactttcAcaaacctatggatacctact	4	13	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:103057008A>T	ENST00000375735.2	+	42	6815	c.6671A>T	c.(6670-6672)cAc>cTc	p.H2224L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2224					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAGACTTTCACAAACCTATG	0.393																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6670-6672)cAc>cTc		dynein, cytoplasmic 2, heavy chain 1							75	66	69					11																	103057008		1827	4087	5914	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103057008A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6671A>T	11.37:g.103057008A>T	ENSP00000364887:p.His2224Leu					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	42	6815	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2224					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6671A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821861	0.32237	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26660	1.72;1.72	5.61	5.61	0.85477	.	.	.	.	.	T	0.21921	0.0528	L	0.44542	1.39	0.30300	N	0.789519	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08351	-1.0726	9	0.41790	T	0.15	.	7.9822	0.30190	0.8427:0.0:0.1573:0.0	.	2224;2224	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	2224	ENSP00000364887:H2224L;ENSP00000381167:H2224L	ENSP00000364887:H2224L	H	+	2	0	DYNC2H1	102562218	0.999000	0.42202	0.999000	0.59377	0.965000	0.64279	3.816000	0.55658	2.127000	0.65507	0.454000	0.30748	CAC		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	155	0	0	0	1	0	4	155					T	103057008	A	T	103057008	3	4	52	1	0	0	0	0	1	0	0	0	4862	159	6	5	6837	5	DYNC2H1	11	103057008	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	25987018	103057008	31949508	63	6420											
PPP2R1B	5519	broad.mit.edu	37	chr11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttccacagcaaggaggcGcactgaatcctaaaggaaca	10	11	0	1	rs376765814	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAAGGAGGCGCACTGAATCC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		16535	0.002		0.0	False		,,,				2504	0.0					ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(697-699)Cgc>Tgc		protein phosphatase 2, regulatory subunit A, beta		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	87	68	74		697,316,697,697,505	5.5	1	11		74	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	180,180,180,180,180	0,3,6495	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	233/557,106/475,233/602,233/668,169/604	111626165	3,12993	2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111626165G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.697C>T	11.37:g.111626165G>A	ENSP00000437193:p.Arg233Cys					PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C	p.R233C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	6	762	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	233					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.697C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665575	0.88251	4.54E-4	1.16E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97077	3.935	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;0.994;1.0;1.0;0.998;1.0	D	0.88083	0.2808	10	0.87932	D	0	-6.6676	16.8722	0.86043	0.0:0.0:1.0:0.0	.	106;233;72;169;233;233	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	C	233;106;169;233;72;233;106	ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C	ENSP00000311344:R233C	R	-	1	0	PPP2R1B	111131375	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.360000	0.79487	2.585000	0.87301	0.655000	0.94253	CGC		0.448	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		35	215	0	0	0	1	0	35	215					A	111626165	G	A	111626165	3	1	52	1	0	0	0	0	1	0	0	0	12430	1087	38	1	1371	1	PPP2R1B	11	111626165	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	8569157	111626165	23380351	64	6421											
PUS3	83480	broad.mit.edu	37	chr11	125763815	125763816	+	Frame_Shift_Ins	INS	-	-	TCAA													catggaataaatgtgggtgcINStcaattcgtcccctacgtac							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:125763815_125763816insTCAA	ENST00000530811.1	-	3	1355_1356	c.1310_1311insTTGA	c.(1309-1311)gagfs	p.E437fs	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	437					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AATGTGGGTGCTCAATTCGTCC	0.465																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1309-1311)gcafs		pseudouridylate synthase 3																																				SO:0001589	frameshift_variant	83480					nucleus	RNA binding	g.chr11:125763815_125763816insTCAA	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1307_1310dupTTGA	11.37:g.125763816_125763819dupTCAA	ENSP00000432386:p.Glu437fs					HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Frame_Shift_Ins_p.A437fs	p.A437fs	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	4	1407_1408	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	437					B2RAM0|Q96D17|Q96J23|Q96NB4	Frame_Shift_Ins	INS	ENST00000530811.1	37	c.1310_1311insTTGA	CCDS8466.1																																																																																				0.465	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		284	694						284	694	---	---	---	---	TCAA	125763816	-	TCAA	125763815	7	5	52	1	0	1	1	0	0	0	0	0	12882	796	28	0	138	0	PUS3	11	125763815	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ0-01A-31D-A40W-08	14137650	125763815	9242701	65	6422											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		54	147	0	0	0	1	0	54	147					G	25398285	C	G	25398285	3	3	52	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		25398285	108453610	66	6423											
DNAH10	196385	broad.mit.edu	37	chr12	124323215	124323215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagcgacccactctgCgtccaggagcacatgatcaa	12	13	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:124323215C>T	ENST00000409039.3	+	28	4786	c.4761C>T	c.(4759-4761)tgC>tgT	p.C1587C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1587	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCACTCTGCGTCCAGGAGC	0.537																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4759-4761)tgC>tgT		dynein, axonemal, heavy chain 10							97	99	98					12																	124323215		1992	4169	6161	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124323215C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4761C>T	12.37:g.124323215C>T							p.C1587C	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	28	4786	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1587			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.4761C>T	CCDS9255.2																																																																																				0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	423	0	0	0	1	0	20	423					T	124323215	C	T	124323215	2	4	52	1	0	0	0	0	0	0	0	1	4614	776	27	1		1	DNAH10	12	124323215	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	98924930	124323215	9528680	67	6424											
RIMBP2	23504	broad.mit.edu	37	chr12	130926715	130926715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgcactgcagctcatcCgagctgcccctgctggtgac	12	15	1	1	rs138793493	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:130926715C>T	ENST00000261655.4	-	8	1294	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	RIMBP2_ENST00000536002.1_Silent_p.S285S|RIMBP2_ENST00000535703.1_Silent_p.S285S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		GCAGCTCATCCGAGCTGCCCC	0.637													C|||	14	0.00279553	0.0	0.0072	5008	,	,		20127	0.0		0.0089	False		,,,				2504	0.0					ENST00000261655.4																			0				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						c.(1129-1131)tcG>tcA		RIMS binding protein 2				2,4404	4.2+/-10.8	0,2,2201	114	105	108		1131	0	1	12	dbSNP_134	108	32,8568	21.6+/-65.8	0,32,4268	no	coding-synonymous	RIMBP2	NM_015347.4		0,34,6469	TT,TC,CC		0.3721,0.0454,0.2614		377/1053	130926715	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926715C>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.1131G>A	12.37:g.130926715C>T						RIMBP2_ENST00000536002.1_Silent_p.S285S|RIMBP2_ENST00000535703.1_Silent_p.S285S	p.S377S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1294	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	377			Fibronectin type-III 1.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1131G>A	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		39	164	0	0	0	1	0	39	164					T	130926715	C	T	130926715	2	4	52	1	0	0	0	0	0	0	0	1	13413	639	23	1		1	RIMBP2	12	130926715	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	6603500	130926715	2925180	68	6425											
MCF2L	23263	broad.mit.edu	37	chr13	113678964	113678964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctctccccaggtgggcGggggcaggacggaagcccgg	19	12	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr13:113678964G>A	ENST00000375608.3	+	4	318	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R90Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGTGGGCGGGGGCAGGAC	0.612																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(268-270)cGg>cAg		MCF.2 cell line derived transforming sequence-like							55	56	56					13																	113678964		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113678964G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.260G>A	13.37:g.113678964G>A	ENSP00000364758:p.Arg87Gln					MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q	p.R90Q			O15068	MCF2L_HUMAN			3	306	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	87			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.269G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.122466	0.94429	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000433807;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397024	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.16	4.16	0.48862	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.83774	2.66	0.46981	D	0.999278	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.84359	0.0537	10	0.87932	D	0	.	15.586	0.76482	0.0:0.0:1.0:0.0	.	55;57;114;55;87	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.;.;.;.;MCF2L_HUMAN	Q	87;87;114;90;57;57;61;61;63;63;28;55;55;55	ENSP00000364758:R87Q;ENSP00000401422:R87Q;ENSP00000364754:R114Q;ENSP00000380225:R90Q;ENSP00000440374:R57Q;ENSP00000397285:R61Q;ENSP00000364751:R61Q;ENSP00000407722:R63Q;ENSP00000386551:R28Q;ENSP00000405639:R55Q;ENSP00000364747:R55Q	ENSP00000364747:R55Q	R	+	2	0	MCF2L	112726965	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.629000	0.67798	2.037000	0.60232	0.462000	0.41574	CGG		0.612	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			26	400	0	0	0	1	0	26	400					A	113678964	G	A	113678964	3	1	52	1	0	0	0	0	1	0	0	0	9420	1116	39	1	446	1	MCF2L	13	113678964	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		113678964	1490914	69	6426											
FLJ10357	55701	broad.mit.edu	37	chr14	21544779	21544779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcattcatgatgaccttCcaactgaactctgtggattt	6	10	3	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:21544779C>T	ENST00000298694.4	+	7	2021	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	632						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGATGACCTTCCAACTGAACT	0.517																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1894-1896)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 40							168	165	166					14																	21544779		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21544779C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1894C>T	14.37:g.21544779C>T	ENSP00000298694:p.Pro632Ser					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S	p.P632S			Q8TER5	ARH40_HUMAN			7	2021	+			632					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1894C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752913	0.15778	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02682	4.26;4.2	5.76	2.85	0.33270	.	0.418092	0.20631	N	0.088588	T	0.02533	0.0077	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44574	-0.9319	10	0.25106	T	0.35	.	4.7742	0.13171	0.154:0.616:0.1486:0.0814	.	632	Q8TER5	ARH40_HUMAN	S	632	ENSP00000298694:P632S;ENSP00000298693:P632S	ENSP00000298693:P632S	P	+	1	0	ARHGEF40	20614619	0.002000	0.14202	0.122000	0.21767	0.147000	0.21601	1.030000	0.30153	0.776000	0.33473	0.561000	0.74099	CCA		0.517	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	472	0	0	0	1	0	8	472					T	21544779	C	T	21544779	3	4	52	1	0	0	0	0	1	0	0	0	5951	855	30	2	1920	2	FLJ10357	14	21544779	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		21544779	85804761	70	6427											
SDR39U1	23351	broad.mit.edu	37	chr14	24910070	24910073	+	3'UTR	DEL	AGTC	AGTC	-													ggttacgaggttggagaaaaAgtcaaagtcccctcctgggc							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:24910070_24910073delAGTC	ENST00000251343.5	+	0	5755_5758				SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000538105.2_Frame_Shift_Del_p.DF48fs|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000554698.1_Frame_Shift_Del_p.DF22fs|SDR39U1_ENST00000399390.1_Frame_Shift_Del_p.DF35fs|SDR39U1_ENST00000399395.3_Frame_Shift_Del_p.DF130fs|SDR39U1_ENST00000555365.1_5'UTR			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TTGGAGAAAAAGTCAAAGTCCCCT	0.559																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(64-69)ttfs		short chain dehydrogenase/reductase family 39U, member 1																																				SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24910070_24910073delAGTC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*3582AGTC>-	14.37:g.24910070_24910073delAGTC						SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000538105.2_Frame_Shift_Del_p.DF48fs|SDR39U1_ENST00000399390.1_Frame_Shift_Del_p.DF35fs|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Frame_Shift_Del_p.DF130fs	p.DF22fs			Q9NRG7	D39U1_HUMAN			3	571_574	-			156					Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	ENST00000251343.5	37	c.64_67delGACT	CCDS32058.1																																																																																				0.559	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			74	245						74	245	---	---	---	---	-	24910073	AGTC	-	24910070	6	5	52	0	1	1	0	1	0	0	0	0	14022	72	3	0		0	SDR39U1	14	24910070	3'UTR	DEL	AGTC	TCGA-FB-AAQ0-01A-31D-A40W-08	3365291	24910070	82439470	71	6428											
HECTD1	25831	broad.mit.edu	37	chr14	31575880	31575880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgctaagtggaggccCagaacctgatggattcttca	10	10	3	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:31575880C>T	ENST00000399332.1	-	38	7686	c.7198G>A	c.(7198-7200)Ggg>Agg	p.G2400R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2400	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTGGAGGCCCAGAACCTGAT	0.378																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(7198-7200)Ggg>Agg		HECT domain containing E3 ubiquitin protein ligase 1							90	84	86					14																	31575880		1869	4111	5980	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31575880C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7198G>A	14.37:g.31575880C>T	ENSP00000382269:p.Gly2400Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7686	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2400			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.7198G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519115	0.85495	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.41758	0.99;0.99	5.81	5.81	0.92471	HECT (4);	0.000000	0.64402	U	0.000001	T	0.64560	0.2609	M	0.77103	2.36	0.80722	D	1	D	0.58620	0.983	P	0.58266	0.836	T	0.66638	-0.5873	10	0.66056	D	0.02	-8.2215	20.0695	0.97716	0.0:1.0:0.0:0.0	.	2400	Q9ULT8	HECD1_HUMAN	R	2400;2402;2400	ENSP00000450697:G2400R;ENSP00000382269:G2400R	ENSP00000261312:G2402R	G	-	1	0	HECTD1	30645631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.484000	0.81180	2.738000	0.93877	0.655000	0.94253	GGG		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			9	375	0	0	0	1	0	9	375					T	31575880	C	T	31575880	3	4	52	1	0	0	0	0	1	0	0	0	7069	594	21	2	658	2	HECTD1	14	31575880	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	6665810	31575880	75773660	72	6429											
CGRRF1	10668	broad.mit.edu	37	chr14	55004518	55004518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgtatcaatatttactcTtggctcaaggtcaatttcat	5	7	5	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:55004518T>G	ENST00000216420.7	+	5	781	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	217					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATATTTACTCTTGGCTCAAGG	0.338																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(649-651)Ttg>Gtg		cell growth regulator with ring finger domain 1							83	80	81					14																	55004518		2203	4295	6498	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004518T>G	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.649T>G	14.37:g.55004518T>G	ENSP00000216420:p.Leu217Val					CGRRF1_ENST00000557512.1_3'UTR	p.L217V	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			5	781	+			217					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.649T>G	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458727	0.26248	.	.	ENSG00000100532	ENST00000216420	T	0.26810	1.71	5.97	3.04	0.35103	.	0.203895	0.42053	D	0.000762	T	0.17789	0.0427	L	0.60455	1.87	0.27023	N	0.964424	B;B	0.31383	0.018;0.321	B;B	0.20577	0.015;0.03	T	0.21415	-1.0246	10	0.15499	T	0.54	-2.8113	5.1776	0.15143	0.1238:0.6109:0.0:0.2653	.	217;217	B2RCX4;Q99675	.;CGRF1_HUMAN	V	217	ENSP00000216420:L217V	ENSP00000216420:L217V	L	+	1	2	CGRRF1	54074268	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.293000	0.43558	0.336000	0.23639	0.477000	0.44152	TTG		0.338	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		102	260	0	0	0	1	0	102	260					G	55004518	T	G	55004518	3	3	52	1	0	0	0	0	1	0	0	0	3315	1606	56	4	667	4	CGRRF1	14	55004518	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	23428638	55004518	52345022	73	6430											
DAAM1	23002	broad.mit.edu	37	chr14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-													ctctgctggctttagagaagGaagaagaagaagaaagaagt					rs141935137		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)gaadel	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTAGAGAAGGAAGAAGAAGAAG	0.325																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(373-375)del		dishevelled associated activator of morphogenesis 1																																				SO:0001651	inframe_deletion	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59787235_59787237delGAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.373_375delGAA	14.37:g.59787244_59787246delGAA	ENSP00000378557:p.Glu129del					DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	4	396_398	+			129			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	c.373_375delGAA	CCDS9737.1																																																																																				0.325	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		10	404						10	404	---	---	---	---	-	59787237	GAA	-	59787235	7	5	52	1	0	1	0	1	0	0	0	0	4226	1175	41	0	387	0	DAAM1	14	59787235	In_Frame_Del	DEL	GAA	TCGA-FB-AAQ0-01A-31D-A40W-08	4782717	59787235	47562305	74	6431											
DICER1	23405	broad.mit.edu	37	chr14	95572489	95572489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catactcaggggaaggaaatTtactgagtggggtaagatca	13	5	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:95572489T>A	ENST00000526495.1	-	20	3167	c.2876A>T	c.(2875-2877)aAa>aTa	p.K959I	DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I|DICER1_ENST00000556045.1_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	959	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAAGGAAATTTACTGAGTGG	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2875-2877)aAa>aTa		dicer 1, ribonuclease type III							107	116	113					14																	95572489		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572489T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2876A>T	14.37:g.95572489T>A	ENSP00000437256:p.Lys959Ile					DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I	p.K959I			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3167	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	959			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2876A>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418738	0.83559	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.69	4.52	0.55395	Argonaute/Dicer protein, PAZ (4);	0.043854	0.85682	D	0.000000	T	0.22399	0.0540	L	0.31371	0.925	0.80722	D	1	P	0.41748	0.761	P	0.51487	0.671	T	0.01205	-1.1419	10	0.48119	T	0.1	-20.6741	12.8648	0.57934	0.0:0.0:0.1361:0.8639	.	959	Q9UPY3	DICER_HUMAN	I	959	ENSP00000343745:K959I;ENSP00000437256:K959I;ENSP00000376783:K959I;ENSP00000435681:K959I;ENSP00000444719:K959I	ENSP00000343745:K959I	K	-	2	0	DICER1	94642242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.241000	0.72369	0.952000	0.37798	0.533000	0.62120	AAA		0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			24	454	0	0	0	1	0	24	454					A	95572489	T	A	95572489	3	1	52	1	0	0	0	0	1	0	0	0	4537	1841	64	5	2932	5	DICER1	14	95572489	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	35785254	95572489	11777051	75	6432											
MKRN3	7681	broad.mit.edu	37	chr15	23811532	23811532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtagaaagctgggcGgatgccattgagtttgttcc	15	7	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:23811532G>A	ENST00000314520.3	+	1	1079	c.603G>A	c.(601-603)gcG>gcA	p.A201A	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCTGGGCGGATGCCATTG	0.592																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(601-603)gcG>gcA		makorin ring finger protein 3							39	45	43					15																	23811532		2202	4300	6502	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811532G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.603G>A	15.37:g.23811532G>A						MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.A201A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1079	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	201						Silent	SNP	ENST00000314520.3	37	c.603G>A	CCDS10013.1																																																																																				0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		53	86	0	0	0	1	0	53	86					A	23811532	G	A	23811532	2	1	52	1	0	0	0	0	0	0	0	1	9649	1103	39	1		1	MKRN3	15	23811532	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		23811532	78719860	76	6433											
SPG11	80208	broad.mit.edu	37	chr15	44907750	44907750	+	Frame_Shift_Del	DEL	A	A	-													agtcttccagttcagatgccAaaaaaaccccattcctatgg							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:44907750delA	ENST00000261866.7	-	16	2865	c.2849delT	c.(2848-2850)ttgfs	p.L950fs	SPG11_ENST00000535302.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L950fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	950					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCAGATGCCAAAAAAACCCC	0.403																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(2848-2850)tgfs		spastic paraplegia 11 (autosomal recessive)							64	59	61					15																	44907750		2198	4298	6496	SO:0001589	frameshift_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44907750delA		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2849delT	15.37:g.44907750delA	ENSP00000261866:p.Leu950fs					SPG11_ENST00000535302.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L950fs	p.L950fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	16	2865	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	950					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Del	DEL	ENST00000261866.7	37	c.2849delT	CCDS10112.1																																																																																				0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			8	288						8	288	---	---	---	---	-	44907750	A	-	44907750	7	5	52	1	0	1	0	1	0	0	0	0	15093	131	5	0	4582	0	SPG11	15	44907750	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ0-01A-31D-A40W-08	21096218	44907750	57623642	77	6434											
RFX7	64864	broad.mit.edu	37	chr15	56387062	56387067	+	In_Frame_Del	DEL	GTGGGT	GTGGGT	-													gggttggggttggagtaggaGtgggtgtgggtgtgggtgtg					rs551989191	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:56387062_56387067delGTGGGT	ENST00000559447.2	-	9	2839_2844	c.2568_2573delACCCAC	c.(2566-2574)acacccact>act	p.856_858TPT>T	RFX7_ENST00000423270.1_In_Frame_Del_p.953_955TPT>T|RFX7_ENST00000422057.1_In_Frame_Del_p.856_858TPT>T|RFX7_ENST00000317318.6_In_Frame_Del_p.953_955TPT>T			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	856					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						tggagtAGGAgtgggtgtgggtgtgg	0.553														14	0.00279553	0.0008	0.0043	5008	,	,		22008	0.0		0.004	False		,,,				2504	0.0061					ENST00000423270.1																			0				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						c.(2857-2865)act>ac		regulatory factor X, 7																																				SO:0001651	inframe_deletion	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387062_56387067delGTGGGT			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.2568_2573delACCCAC	15.37:g.56387068_56387073delGTGGGT	ENSP00000453281:p.Thr866_Pro867del					RFX7_ENST00000559447.2_In_Frame_Del_p.TPT856del|RFX7_ENST00000317318.6_In_Frame_Del_p.TPT953del|RFX7_ENST00000422057.1_In_Frame_Del_p.TPT856del	p.TPT953del	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2858_2863	-			856					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	In_Frame_Del	DEL	ENST00000559447.2	37	c.2859_2864delACCCAC																																																																																					0.553	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		12	16						12	16	---	---	---	---	-	56387067	GTGGGT	-	56387062	7	5	52	1	0	1	0	1	0	0	0	0	13318	1029	36	0	1522	0	RFX7	15	56387062	In_Frame_Del	DEL	GTGGGT	TCGA-FB-AAQ0-01A-31D-A40W-08	11479312	56387062	46144330	78	6435											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	122						7	122	---	---	---	---	-	65943130	GAG	-	65943128	7	5	52	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ0-01A-31D-A40W-08	9556066	65943128	36588264	79	6436											
RASGRF1	5923	broad.mit.edu	37	chr15	79323771	79323771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagtttggacttggcGtagtccaggctgttgcgctc	12	12	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000558480.2_Silent_p.Y411Y|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	411	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGACTTGGCGTAGTCCAGGC	0.637																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1231-1233)taC>taT		Ras protein-specific guanine nucleotide-releasing factor 1							92	71	78					15																	79323771		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79323771G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1233C>T	15.37:g.79323771G>A						RASGRF1_ENST00000558480.2_Silent_p.Y411Y|RASGRF1_ENST00000560334.1_5'UTR	p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			8	1507	-			411			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1233C>T	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		7	52	0	0	0	1	0	7	52					A	79323771	G	A	79323771	2	1	52	1	0	0	0	0	0	0	0	1	13122	1140	40	1		1	RASGRF1	15	79323771	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	13380643	79323771	23207621	80	6437											
IGF1R	3480	broad.mit.edu	37	chr15	99482481	99482481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatgattcagatggccGgagagattgcagacggcatg	15	7	1	5			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:99482481G>A	ENST00000268035.6	+	18	3960	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCAGATGGCCGGAGAGATTGC	0.438																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3349-3351)Gga>Aga		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						132	125	127					15																	99482481		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99482481G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3349G>A	15.37:g.99482481G>A	ENSP00000268035:p.Gly1117Arg					IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	p.G1117R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		18	3960	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1117			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3349G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261478	0.95368	.	.	ENSG00000140443	ENST00000268035	D	0.88201	-2.35	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	D	0.85146	0.5630	N	0.00742	-1.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.91434	0.5168	10	0.59425	D	0.04	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	1116;1117	C9J5X1;P08069	.;IGF1R_HUMAN	R	1117	ENSP00000268035:G1117R	ENSP00000268035:G1117R	G	+	1	0	IGF1R	97300004	1.000000	0.71417	0.240000	0.24138	0.986000	0.74619	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	GGA		0.438	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		8	431	0	0	0	1	0	8	431					A	99482481	G	A	99482481	3	1	52	1	0	0	0	0	1	0	0	0	7601	1117	39	1	3419	1	IGF1R	15	99482481	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	20158710	99482481	3048911	81	6438											
MYH11	4629	broad.mit.edu	37	chr16	15841926	15841926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggaactcctggaagaCgatccggttggggaagccct	15	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:15841926C>T	ENST00000300036.5	-	17	2267	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I	MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I|MYH11_ENST00000576790.2_Missense_Mutation_p.V720I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	720	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)			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						TCCTGGAAGACGATCCGGTTG	0.647			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(2158-2160)Gtc>Atc		myosin, heavy chain 11, smooth muscle							74	61	65					16																	15841926		2197	4300	6497	SO:0001583	missense	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.chr16:15841926C>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.2158G>A	16.37:g.15841926C>T	ENSP00000300036:p.Val720Ile					MYH11_ENST00000576790.1_Missense_Mutation_p.V720I|MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I|MYH11_ENST00000300036.5_Missense_Mutation_p.V720I	p.V720I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			17	2264	-			720			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2158G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410585	0.42715	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.147580	0.44902	D	0.000402	T	0.61110	0.2321	N	0.26162	0.8	0.80722	D	1	B;B;B;B;B	0.13594	0.008;0.008;0.001;0.008;0.001	B;B;B;B;B	0.17098	0.017;0.01;0.017;0.01;0.01	T	0.59532	-0.7437	10	0.54805	T	0.06	.	16.918	0.86156	0.0:1.0:0.0:0.0	.	727;720;727;720;727	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	720;720;727;727;727	ENSP00000300036:V720I;ENSP00000345136:V720I;ENSP00000379616:V727I;ENSP00000407821:V727I	ENSP00000300036:V720I	V	-	1	0	MYH11	15749427	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.955000	0.63638	2.224000	0.72417	0.561000	0.74099	GTC		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		61	290	0	0	0	1	0	61	290					T	15841926	C	T	15841926	3	4	52	1	0	0	0	0	1	0	0	0	10072	536	19	1	3895	1	MYH11	16	15841926	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		15841926	74512827	82	6439											
IL4R	3566	broad.mit.edu	37	chr16	27356274	27356274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggtcagtgcggataaCtatacactggacctgtgggc	14	9	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:27356274C>A	ENST00000395762.2	+	5	553	c.294C>A	c.(292-294)aaC>aaA	p.N98K	IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	98					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGCGGATAACTATACACTGG	0.642																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(292-294)aaC>aaA		interleukin 4 receptor							107	91	97					16																	27356274		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27356274C>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.294C>A	16.37:g.27356274C>A	ENSP00000379111:p.Asn98Lys					IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K	p.N98K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			5	553	+			98					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.294C>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	c	9.462	1.093474	0.20471	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	3.4	-1.07	0.09968	Interleukin-4 receptor alpha chain, N-terminal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.766520	0.01326	N	0.011099	T	0.09024	0.0223	N	0.22421	0.69	0.09310	N	1	B;P;B	0.40578	0.346;0.722;0.298	B;B;B	0.30316	0.05;0.114;0.029	T	0.15752	-1.0426	10	0.06494	T	0.89	.	2.2459	0.04031	0.1909:0.3504:0.3448:0.1138	.	83;98;98	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	K	98;98;98;98;83;98	ENSP00000410322:N98K;ENSP00000379111:N98K;ENSP00000441667:N98K;ENSP00000370309:N83K;ENSP00000170630:N98K	ENSP00000170630:N98K	N	+	3	2	IL4R	27263775	0.006000	0.16342	0.000000	0.03702	0.021000	0.10359	0.000000	0.12993	-0.159000	0.11021	-0.642000	0.03964	AAC		0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			110	326	1	0	3.35719e-51	1	3.74614e-51	110	326					A	27356274	C	A	27356274	3	1	52	1	0	0	0	0	1	0	0	0	7728	564	20	3	304	3	IL4R	16	27356274	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	11514348	27356274	62998479	83	6440											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		10	3323						10	3323	---	---	---	---	-	28734581	GAG	-	28734579	7	5	52	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ0-01A-31D-A40W-08	1378305	28734579	61620174	84	6441											
HIRIP3	8479	broad.mit.edu	37	chr16	30005972	30005972	+	Frame_Shift_Del	DEL	T	T	-													tagtcttccccttgtaccccTtttcctcctcctcactgctc							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:30005972delT	ENST00000279392.3	-	4	1324	c.494delA	c.(493-495)aagfs	p.K165fs	HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	165	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTGTACCCCTTTTCCTCCTC	0.577																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(493-495)agfs		HIRA interacting protein 3							215	222	220					16																	30005972		2197	4300	6497	SO:0001589	frameshift_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005972delT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.494delA	16.37:g.30005972delT	ENSP00000279392:p.Lys165fs					HIRIP3_ENST00000564026.1_Intron	p.K165fs	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1324	-			165			Glu-rich.		H3BSR3|O75707|O75708	Frame_Shift_Del	DEL	ENST00000279392.3	37	c.494delA	CCDS10664.1																																																																																				0.577	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		7	1605						7	1605	---	---	---	---	-	30005972	T	-	30005972	7	5	52	1	0	1	0	1	0	0	0	0	7151	1609	56	0	1192	0	HIRIP3	16	30005972	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ0-01A-31D-A40W-08	1271393	30005972	60348781	85	6442											
AMFR	267	broad.mit.edu	37	chr16	56423115	56423115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accatcgaaatggaagaagtGattgtgttggtttaagcgag	13	4	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:56423115G>C	ENST00000290649.5	-	9	1468	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	420					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1258-1260)Cac>Gac		autocrine motility factor receptor, E3 ubiquitin protein ligase							155	145	148					16																	56423115		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423115G>C	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1258C>G	16.37:g.56423115G>C	ENSP00000290649:p.His420Asp						p.H420D	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			9	1468	-			420					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1258C>G	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738582	0.89573	.	.	ENSG00000159461	ENST00000290649	T	0.16897	2.31	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.77103	2.36	0.80722	D	1	D	0.59767	0.986	P	0.59487	0.858	T	0.21109	-1.0255	10	0.59425	D	0.04	-30.074	20.33	0.98713	0.0:0.0:1.0:0.0	.	420	Q9UKV5	AMFR2_HUMAN	D	420	ENSP00000290649:H420D	ENSP00000290649:H420D	H	-	1	0	AMFR	54980616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.810000	0.96702	0.585000	0.79938	CAC		0.423	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			16	461	0	0	0	1	0	16	461					C	56423115	G	C	56423115	3	2	52	1	0	0	0	0	1	0	0	0	571	1290	45	5	697	5	AMFR	16	56423115	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	26417143	56423115	33931638	86	6443											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	474						9	474	---	---	---	---	-	57731887	GGA	-	57731885	7	5	52	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-FB-AAQ0-01A-31D-A40W-08	1308770	57731885	32622868	87	6444											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		10	1749						10	1749	---	---	---	---	-	68718504	A	-	68718504	7	5	52	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ0-01A-31D-A40W-08	10986619	68718504	21636249	88	6445											
USP10	9100	broad.mit.edu	37	chr16	84806216	84806216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcacctgaaacgattcGtttatgagaagactggtggg	13	7	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:84806216G>A	ENST00000219473.7	+	12	2181	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	USP10_ENST00000570191.1_Missense_Mutation_p.V694I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	690	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAAACGATTCGTTTATGAGAA	0.443																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2068-2070)Gtt>Att		ubiquitin specific peptidase 10							164	157	159					16																	84806216		1919	4142	6061	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84806216G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2068G>A	16.37:g.84806216G>A	ENSP00000219473:p.Val690Ile					USP10_ENST00000570191.1_Missense_Mutation_p.V694I	p.V690I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			12	2181	+			690					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.2068G>A	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353656	0.24512	.	.	ENSG00000103194	ENST00000219473	T	0.30448	1.53	4.38	4.38	0.52667	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.33293	1	0.80722	D	1	D;P	0.57571	0.98;0.914	P;P	0.49683	0.572;0.619	T	0.03807	-1.1002	10	0.30854	T	0.27	-17.0169	16.2965	0.82776	0.0:0.0:1.0:0.0	.	694;690	Q14694-3;Q14694	.;UBP10_HUMAN	I	690	ENSP00000219473:V690I	ENSP00000219473:V690I	V	+	1	0	USP10	83363717	1.000000	0.71417	0.796000	0.32109	0.335000	0.28730	9.178000	0.94855	2.157000	0.67596	0.563000	0.77884	GTT		0.443	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			164	432	0	0	0	1	0	164	432					A	84806216	G	A	84806216	3	1	52	1	0	0	0	0	1	0	0	0	17095	1145	40	1	2114	1	USP10	16	84806216	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	16087712	84806216	5548537	89	6446											
ASPA	443	broad.mit.edu	37	chr17	3397713	3397713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgattacccccgggatgAaaatggagaaattgctgcta	11	7	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:3397713A>G	ENST00000263080.2	+	5	862	c.704A>G	c.(703-705)gAa>gGa	p.E235G	ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	235					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCCCGGGATGAAAATGGAGAA	0.343																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(703-705)gAa>gGa		aspartoacylase	L-Aspartic Acid(DB00128)						172	191	185					17																	3397713		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3397713A>G	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.704A>G	17.37:g.3397713A>G	ENSP00000263080:p.Glu235Gly					ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	p.E235G	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			5	862	+			235						Missense_Mutation	SNP	ENST00000263080.2	37	c.704A>G	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	a	13.26	2.183230	0.38511	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97850	-4.57;-4.57	5.72	3.44	0.39384	.	0.570209	0.20924	N	0.083222	D	0.94434	0.8209	L	0.43646	1.37	0.80722	D	1	B	0.17465	0.022	B	0.15484	0.013	D	0.89317	0.3637	10	0.38643	T	0.18	-6.3778	6.8856	0.24197	0.7727:0.1508:0.0765:0.0	.	235	P45381	ACY2_HUMAN	G	235	ENSP00000409976:E235G;ENSP00000263080:E235G	ENSP00000263080:E235G	E	+	2	0	ASPA	3344463	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	1.983000	0.40648	0.493000	0.27837	0.528000	0.53228	GAA		0.343	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		12	876	0	0	0	1	0	12	876					G	3397713	A	G	3397713	3	3	52	1	0	0	0	0	1	0	0	0	1051	246	9	4	722	4	ASPA	17	3397713	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08		3397713	77797497	90	6447											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	4	12	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:7578235T>G	ENST00000269305.4	-	6	803	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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)	ENST00000420246.2		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"		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(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						c.(613-615)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>G	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.614A>C	17.37:g.7578235T>G	ENSP00000269305:p.Tyr205Ser	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_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S	p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	746	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.614A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897640	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92738	3.34	0.58432	D	0.999999	P;D;P;P;D;P;P	0.58268	0.766;0.982;0.89;0.954;0.974;0.853;0.943	P;P;P;P;P;P;P	0.61940	0.714;0.829;0.681;0.781;0.896;0.781;0.623	D	0.97292	0.9925	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S	ENSP00000269305:Y205S	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		73	83	0	0	0	1	0	73	83					G	7578235	T	G	7578235	3	3	52	1	0	0	0	0	1	0	0	0	16434	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	4180522	7578235	73616975	91	6448											
RICH2	9912	broad.mit.edu	37	chr17	12883530	12883530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgcctgcagaccagaGtcctcacaccctccggaaag	9	18	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:12883530G>A	ENST00000379672.5	+	19	2219	c.1919G>A	c.(1918-1920)aGt>aAt	p.S640N	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N|ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	640					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCAGACCAGAGTCCTCACACC	0.642																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1918-1920)aGt>aAt		Rho GTPase activating protein 44							29	36	33					17																	12883530		1947	4154	6101	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12883530G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1919G>A	17.37:g.12883530G>A	ENSP00000368994:p.Ser640Asn					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N	p.S640N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			19	2219	+			640					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1919G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754676	0.89843	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T	0.35789	1.38;1.29	4.87	4.87	0.63330	.	0.092219	0.64402	D	0.000001	T	0.56352	0.1979	L	0.57536	1.79	0.58432	D	0.999997	D;D;D;D	0.71674	0.981;0.991;0.998;0.981	D;D;D;D	0.80764	0.954;0.988;0.994;0.954	T	0.59069	-0.7523	10	0.87932	D	0	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	634;98;296;640	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	N	640;296;634;98	ENSP00000368994:S640N;ENSP00000342566:S634N	ENSP00000262444:S98N	S	+	2	0	ARHGAP44	12824255	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.915000	0.75770	2.537000	0.85549	0.555000	0.69702	AGT		0.642	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		54	72	0	0	0	1	0	54	72					A	12883530	G	A	12883530	3	1	52	1	0	0	0	0	1	0	0	0	13407	1029	36	2	1993	2	RICH2	17	12883530	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	5305295	12883530	68311680	92	6449											
ACLY	47	broad.mit.edu	37	chr17	40030190	40030190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagatgctggtcatgaacGaggcaggtttgcggatcaaa	14	8	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:40030190G>A	ENST00000352035.2	-	23	2646	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000590151.1_Missense_Mutation_p.S839L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	839					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGTCATGAACGAGGCAGGTTT	0.587																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2515-2517)tCg>tTg		ATP citrate lyase							50	45	47					17																	40030190		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40030190G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2516C>T	17.37:g.40030190G>A	ENSP00000253792:p.Ser839Leu					ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L	p.S839L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			23	2646	-		Breast(137;0.000143)	839					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2516C>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265036	0.95399	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.76	5.76	0.90799	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.978;0.959;0.994;0.994;0.978	T	0.19321	-1.0309	10	0.35671	T	0.21	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	568;883;893;829;839	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	839;893;829;568;829	ENSP00000253792:S839L;ENSP00000345398:S829L;ENSP00000445349:S568L;ENSP00000377474:S829L	ENSP00000253792:S839L	S	-	2	0	ACLY	37283716	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.720000	0.98763	2.732000	0.93576	0.655000	0.94253	TCG		0.587	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		82	135	0	0	0	1	0	82	135					A	40030190	G	A	40030190	3	1	52	1	0	0	0	0	1	0	0	0	143	1059	37	1	817	1	ACLY	17	40030190	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	27146660	40030190	41165020	93	6450											
KIAA0802	23255	broad.mit.edu	37	chr18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-													cccaccgatcagctcaggggCccccccgttttacctgagca							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98	108	104					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			8	1115						8	1115	---	---	---	---	-	8793004	C	-	8793004	7	5	52	1	0	1	0	1	0	0	0	0	8224	726	26	0	1918	0	KIAA0802	18	8793004	Frame_Shift_Del	DEL	C	TCGA-FB-AAQ0-01A-31D-A40W-08		8793004	69284244	94	6451											
GNAL	2774	broad.mit.edu	37	chr18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggggtgtttgggcgGcaacagcaagacgacggaag	18	7	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557																																						ENST00000423027.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(16-18)gGc>gAc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							96	97	97					18																	11752449		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752449G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.17G>A	18.37:g.11752449G>A	ENSP00000408489:p.Gly6Asp					GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D	p.G6D			P38405	GNAL_HUMAN			1	338	+			6					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.17G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599844	0.87055	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.04	4.04	0.47022	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.34358	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.928000	0.92853	2.542000	0.85734	0.491000	0.48974	GGC		0.557	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		8	754	0	0	0	1	0	8	754					A	11752449	G	A	11752449	3	1	52	1	0	0	0	0	1	0	0	0	6536	1203	42	2	399	2	GNAL	18	11752449	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	2959445	11752449	66324799	95	6452											
NOL4	8715	broad.mit.edu	37	chr18	31538269	31538269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctccgaatcgtcatgGtcctcgtggtcatcttcgtc	8	13	4	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:31538269G>A	ENST00000261592.5	-	7	1467	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	390						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AATCGTCATGGTCCTCGTGGT	0.493																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1168-1170)gaC>gaT		nucleolar protein 4							275	234	248					18																	31538269		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31538269G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1170C>T	18.37:g.31538269G>A						NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D|NOL4_ENST00000535384.1_Silent_p.D105D	p.D390D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			7	1467	-			390					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1170C>T	CCDS11907.2																																																																																				0.493	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		23	469	0	0	0	1	0	23	469					A	31538269	G	A	31538269	2	1	52	1	0	0	0	0	0	0	0	1	10566	1252	44	2		2	NOL4	18	31538269	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	19785820	31538269	46538979	96	6453											
TCEB3CL	100506888	broad.mit.edu	37	chr18	44543098	44543099	+	Frame_Shift_Ins	INS	-	-	GC													ggtcactactcgcagccgctINSgctctcgggcgtcccgaagc					rs373334809		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:44543098_44543099insGC	ENST00000591973.2	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	425	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGCAGCCGCTGCTCTCGGGCG	0.554																																						ENST00000591973.2																			0											c.(1273-1275)gcgfs		transcription elongation factor B polypeptide 3C-like 2																																				SO:0001589	frameshift_variant	100506888							g.chr18:44543098_44543099insGC		CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1272_1273dupGC	18.37:g.44543099_44543100dupGC	ENSP00000468046:p.Gln425fs					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	p.A425fs	NM_001242907.1	NP_001229836.1					1	1508_1509	-									Frame_Shift_Ins	INS	ENST00000591973.2	37	c.1273_1274insGC	CCDS59316.1																																																																																				0.554	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451070.1	XM_929328		11	128						11	128	---	---	---	---	GC	44543099	-	GC	44543098	7	5	52	1	0	1	1	0	0	0	0	0	15736	1580	55	0	368	0	TCEB3CL	18	44543098	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ0-01A-31D-A40W-08	13004829	44543098	33534150	97	6454											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000585967.1_5'Flank|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	175						7	175	---	---	---	---	-	1578374	CTC	-	1578372	7	5	52	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-FB-AAQ0-01A-31D-A40W-08		1578372	57550611	98	6455											
ZNF43	7594	broad.mit.edu	37	chr19	21991818	21991818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcttcacatgtgtaggGtttctctccagtatgaattc	7	9	3	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:21991818G>A	ENST00000354959.4	-	4	1190	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	ZNF43_ENST00000595461.1_Missense_Mutation_p.P335S|ZNF43_ENST00000598381.1_Missense_Mutation_p.P335S|ZNF43_ENST00000594012.1_Missense_Mutation_p.P335S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	341					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATGTGTAGGGTTTCTCTCCA	0.383																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1003-1005)Ccc>Tcc		zinc finger protein 43							51	54	53					19																	21991818		2203	4297	6500	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991818G>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1021C>T	19.37:g.21991818G>A	ENSP00000347045:p.Pro341Ser					ZNF43_ENST00000354959.4_Missense_Mutation_p.P341S|ZNF43_ENST00000598381.1_Missense_Mutation_p.P335S|ZNF43_ENST00000595461.1_Missense_Mutation_p.P335S	p.P335S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1517	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	341					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1003C>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435278	0.43224	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16743	2.32	1.76	0.564	0.17302	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16342	0.0393	L	0.34521	1.04	0.31501	N	0.664739	P	0.41232	0.743	P	0.45946	0.498	T	0.20075	-1.0286	9	0.56958	D	0.05	.	7.9543	0.30033	0.0:0.0:0.7528:0.2472	.	341	P17038	ZNF43_HUMAN	S	340;341	ENSP00000347045:P341S	ENSP00000347045:P341S	P	-	1	0	ZNF43	21783658	0.998000	0.40836	0.000000	0.03702	0.042000	0.13812	2.954000	0.49113	0.052000	0.16007	0.305000	0.20034	CCC		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	431	0	0	0	1	0	6	431					A	21991818	G	A	21991818	3	1	52	1	0	0	0	0	1	0	0	0	17956	1261	44	2	1412	2	ZNF43	19	21991818	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	20413446	21991818	37137165	99	6456											
TSHZ3	57616	broad.mit.edu	37	chr19	31769290	31769290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcgacttccttcttgAcctccacattcagttttggg	7	13	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31769290A>C	ENST00000240587.4	-	2	1736	c.1409T>G	c.(1408-1410)gTc>gGc	p.V470G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	470					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCCTTCTTGACCTCCACATT	0.532																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1408-1410)gTc>gGc		teashirt zinc finger homeobox 3							154	155	155					19																	31769290		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769290A>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1409T>G	19.37:g.31769290A>C	ENSP00000240587:p.Val470Gly						p.V470G	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1736	-	Esophageal squamous(110;0.226)		470					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1409T>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	10.78	1.445905	0.25987	.	.	ENSG00000121297	ENST00000240587	T	0.38560	1.13	5.55	5.55	0.83447	.	0.238434	0.37669	N	0.001998	T	0.24005	0.0581	N	0.08118	0	0.58432	D	0.999998	P	0.36733	0.567	B	0.33521	0.165	T	0.10268	-1.0637	10	0.23891	T	0.37	-29.7855	15.7178	0.77681	1.0:0.0:0.0:0.0	.	470	Q63HK5	TSH3_HUMAN	G	470	ENSP00000240587:V470G	ENSP00000240587:V470G	V	-	2	0	TSHZ3	36461130	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.930000	0.92872	2.099000	0.63709	0.533000	0.62120	GTC		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		139	764	0	0	0	1	0	139	764					C	31769290	A	C	31769290	3	2	52	1	0	0	0	0	1	0	0	0	16678	275	10	4	1840	4	TSHZ3	19	31769290	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	9777472	31769290	27359693	100	6457											
TSHZ3	57616	broad.mit.edu	37	chr19	31770055	31770055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctgcagtccttacagCggaacttgctggcccccgtg	12	15	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31770055C>T	ENST00000240587.4	-	2	971	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	215					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCCTTACAGCGGAACTTGCT	0.612																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(643-645)cGc>cAc		teashirt zinc finger homeobox 3							108	99	102					19																	31770055		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770055C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.644G>A	19.37:g.31770055C>T	ENSP00000240587:p.Arg215His						p.R215H	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	971	-	Esophageal squamous(110;0.226)		215					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.644G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245903	0.80024	.	.	ENSG00000121297	ENST00000240587	T	0.15139	2.45	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.37561	1.115	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01858	-1.1259	10	0.42905	T	0.14	-25.4075	19.2151	0.93774	0.0:1.0:0.0:0.0	.	215	Q63HK5	TSH3_HUMAN	H	215	ENSP00000240587:R215H	ENSP00000240587:R215H	R	-	2	0	TSHZ3	36461895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.509000	0.84616	0.655000	0.94253	CGC		0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		24	505	0	0	0	1	0	24	505					T	31770055	C	T	31770055	3	4	52	1	0	0	0	0	1	0	0	0	16678	768	27	1	2605	1	TSHZ3	19	31770055	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	765	31770055	27358928	101	6458											
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	7	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					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.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3																			1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82	81	81					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser					ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S	p.F374S			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	326	0	0	0	1	0	7	326					C	35232275	T	C	35232275	3	2	52	1	0	0	0	0	1	0	0	0	17802	1841	64	4	1003	4	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	3462220	35232275	23896708	102	6459											
HAUS5	23354	broad.mit.edu	37	chr19	36104957	36104957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatggccaccaggacagtcCacaggtgagaagcatatgct	12	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:36104957C>G	ENST00000203166.5	+	4	240	c.215C>G	c.(214-216)cCa>cGa	p.P72R	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	72					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.P72L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGGACAGTCCACAGGTGAGA	0.537																																						ENST00000203166.5																			1	Substitution - Missense(1)	p.P72L(1)	large_intestine(1)	NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(214-216)cCa>cGa		HAUS augmin-like complex, subunit 5							57	60	59					19																	36104957		2201	4300	6501	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36104957C>G	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.215C>G	19.37:g.36104957C>G	ENSP00000439056:p.Pro72Arg					HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	p.P72R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			4	240	+			72					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.215C>G	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886990	0.72410	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.29917	1.55;1.55	4.98	4.98	0.66077	.	0.281001	0.35407	N	0.003229	T	0.32406	0.0828	N	0.08118	0	0.35460	D	0.796479	D	0.67145	0.996	D	0.67382	0.951	T	0.43893	-0.9363	10	0.39692	T	0.17	-11.1042	13.633	0.62206	0.0:1.0:0.0:0.0	.	72	O94927	HAUS5_HUMAN	R	72	ENSP00000439056:P72R;ENSP00000444373:P72R	ENSP00000439056:P72R	P	+	2	0	HAUS5	40796797	0.955000	0.32602	1.000000	0.80357	0.807000	0.45602	1.249000	0.32839	2.581000	0.87130	0.655000	0.94253	CCA		0.537	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			24	307	0	0	0	1	0	24	307					G	36104957	C	G	36104957	3	3	52	1	0	0	0	0	1	0	0	0	6999	594	21	5	229	5	HAUS5	19	36104957	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	872682	36104957	23024026	103	6460											
ZNF420	147923	broad.mit.edu	37	chr19	37618172	37618172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggattatttggaagccaaAggcaagatggagaagcaaca	13	5	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:37618172A>C	ENST00000337995.3	+	5	494	c.279A>C	c.(277-279)aaA>aaC	p.K93N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAGCCAAAGGCAAGATGG	0.368																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(277-279)aaA>aaC		zinc finger protein 420							90	90	90					19																	37618172		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618172A>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.279A>C	19.37:g.37618172A>C	ENSP00000338770:p.Lys93Asn					ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|ZNF585A_ENST00000588723.1_Intron	p.K93N	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	494	+			93					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.279A>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.743139	0.00675	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.07327	3.2;3.36	2.82	-0.616	0.11583	.	.	.	.	.	T	0.03390	0.0098	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43637	-0.9379	9	0.33940	T	0.23	.	0.4456	0.00493	0.4223:0.2249:0.1343:0.2184	.	93	Q8TAQ5	ZN420_HUMAN	N	93	ENSP00000306102:K93N;ENSP00000338770:K93N	ENSP00000306102:K93N	K	+	3	2	ZNF420	42310012	.	.	0.002000	0.10522	0.012000	0.07955	.	.	-0.232000	0.09811	-0.496000	0.04628	AAA		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		9	278	0	0	0	1	0	9	278					C	37618172	A	C	37618172	3	2	52	1	0	0	0	0	1	0	0	0	17950	69	3	4	289	4	ZNF420	19	37618172	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	1513215	37618172	21510811	104	6461											
PSG9	5678	broad.mit.edu	37	chr19	43763170	43763170	+	Frame_Shift_Del	DEL	T	T	-													tgacggggaggctctgaccgTttagccaccaaatgtaggtg							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:43763170delT	ENST00000270077.3	-	4	923	c.827delA	c.(826-828)aacfs	p.N276fs	PSG9_ENST00000418820.2_Frame_Shift_Del_p.N183fs|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Frame_Shift_Del_p.N183fs|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTCTGACCGTTTAGCCACCA	0.473																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(547-549)acfs		pregnancy specific beta-1-glycoprotein 9							219	230	227					19																	43763170		2150	4282	6432	SO:0001589	frameshift_variant	5678				female pregnancy	extracellular region		g.chr19:43763170delT	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.827delA	19.37:g.43763170delT	ENSP00000270077:p.Asn276fs					PSG9_ENST00000270077.3_Frame_Shift_Del_p.N276fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.N183fs|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron	p.N183fs			Q00887	PSG9_HUMAN			3	646	-		Prostate(69;0.00682)	183			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Del	DEL	ENST00000270077.3	37	c.548delA	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		7	1425						7	1425	---	---	---	---	-	43763170	T	-	43763170	7	5	52	1	0	1	0	1	0	0	0	0	12709	1725	60	0	465	0	PSG9	19	43763170	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ0-01A-31D-A40W-08	6144998	43763170	15365813	105	6462											
EMP3	2014	broad.mit.edu	37	chr19	48833591	48833591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactggcgccttgatctatgCcattcacgccgaggagatcc	10	13	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:48833591C>G	ENST00000270221.6	+	5	657	c.356C>G	c.(355-357)gCc>gGc	p.A119G	EMP3_ENST00000597279.1_Missense_Mutation_p.A119G|EMP3_ENST00000596315.1_Missense_Mutation_p.A50G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	119					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGATCTATGCCATTCACGCC	0.607																																						ENST00000270221.6																			0				lung(1)	1						c.(355-357)gCc>gGc		epithelial membrane protein 3							91	88	89					19																	48833591		2203	4300	6503	SO:0001583	missense	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48833591C>G	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.356C>G	19.37:g.48833591C>G	ENSP00000270221:p.Ala119Gly					EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	p.A119G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	5	657	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	119					Q6FH01	Missense_Mutation	SNP	ENST00000270221.6	37	c.356C>G	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898759	0.72639	.	.	ENSG00000142227	ENST00000270221	D	0.89123	-2.47	4.35	3.31	0.37934	.	0.115317	0.64402	D	0.000015	T	0.82010	0.4944	N	0.22421	0.69	0.38944	D	0.958205	B	0.30542	0.284	B	0.33568	0.166	T	0.82218	-0.0566	10	0.87932	D	0	.	11.387	0.49791	0.0:0.9088:0.0:0.0912	.	119	P54852	EMP3_HUMAN	G	119	ENSP00000270221:A119G	ENSP00000270221:A119G	A	+	2	0	EMP3	53525403	0.987000	0.35691	0.993000	0.49108	0.837000	0.47467	4.846000	0.62860	1.168000	0.42723	0.561000	0.74099	GCC		0.607	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	NM_001425		169	356	0	0	0	1	0	169	356					G	48833591	C	G	48833591	3	3	52	1	0	0	0	0	1	0	0	0	5121	739	26	5	370	5	EMP3	19	48833591	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	5070421	48833591	10295392	106	6463											
SLC17A7	57030	broad.mit.edu	37	chr19	49935855	49935855	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtccgcgatctggccgccGatgggcacgatgatggtcat	14	11	2	1	rs564881392		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:49935855G>T	ENST00000221485.3	-	9	1242	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	SLC17A7_ENST00000543531.1_Silent_p.I345I|SLC17A7_ENST00000600601.1_Silent_p.I290I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	357					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCTGGCCGCCGATGGGCACGA	0.672																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1069-1071)atC>atA		solute carrier family 17 (vesicular glutamate transporter), member 7							24	25	25					19																	49935855		2203	4299	6502	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935855G>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1071C>A	19.37:g.49935855G>T						SLC17A7_ENST00000543531.1_Silent_p.I345I|SLC17A7_ENST00000600601.1_Silent_p.I290I	p.I357I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1242	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	357					B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1071C>A	CCDS12764.1																																																																																				0.672	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			5	101	1	0	0.000602214	1	0.000622628	5	101					T	49935855	G	T	49935855	2	4	52	1	0	0	0	0	0	0	0	1	14472	1048	37	3		3	SLC17A7	19	49935855	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	1102264	49935855	9193128	107	6464											
LILRA3	11026	broad.mit.edu	37	chr19	54803682	54803682	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctcccctgacaccTgagggtcacaggactccctt	9	17	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:54803682T>G	ENST00000251390.3	-	3	233	c.142A>C	c.(142-144)Agg>Cgg	p.R48R	LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000391745.1_Silent_p.R65R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	48	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCTGAGGGTCACA	0.547																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(193-195)Agg>Cgg		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							89	79	82					19																	54803682		2194	4157	6351	SO:0001819	synonymous_variant	0							g.chr19:54803682T>G	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.142A>C	19.37:g.54803682T>G						LILRA3_ENST00000251390.3_Silent_p.R48R|LILRA3_ENST00000391744.3_Silent_p.R48R	p.R65R						GBM - Glioblastoma multiforme(193;0.105)	7	509	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.193A>C	CCDS12887.1																																																																																				0.547	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			135	239	0	0	0	1	0	135	239					G	54803682	T	G	54803682	2	3	52	1	0	0	0	0	0	0	0	1	8818	1579	55	4		4	LILRA3	19	54803682	Silent	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	4867827	54803682	4325301	108	6465											
NLRP9	338321	broad.mit.edu	37	chr19	56244180	56244180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtacagaccaaccagcaCgtaaagggattatggcacaa	9	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:56244180C>T	ENST00000332836.2	-	2	1044	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		CCAACCAGCACGTAAAGGGAT	0.413																																						ENST00000332836.2																			0				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						c.(1015-1017)acG>acA		NLR family, pyrin domain containing 9							104	99	101					19																	56244180		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244180C>T	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.1017G>A	19.37:g.56244180C>T							p.T339T	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1044	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	339			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1017G>A	CCDS12934.1																																																																																				0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		99	470	0	0	0	1	0	99	470					T	56244180	C	T	56244180	2	4	52	1	0	0	0	0	0	0	0	1	10526	523	19	1		1	NLRP9	19	56244180	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	1440498	56244180	2884803	109	6466											
PEG3	5178	broad.mit.edu	37	chr19	57327998	57327998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctaaaggtttccccGcgctcacgttcacgttcacg	10	15	3	0	rs143113379	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:57327998G>A	ENST00000326441.9	-	10	2175	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|PEG3_ENST00000598410.1_Silent_p.R480R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					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)			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)		AGGTTTCCCCGCGCtcacgtt	0.463																																						ENST00000326441.9																			0				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						c.(1810-1812)cgC>cgT		paternally expressed 3		A	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89	74	79		1812,1434,1812,1440,,,1812,	-3.9	0	19	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57327998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327998G>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.1812C>T	19.37:g.57327998G>A						ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|PEG3_ENST00000593695.1_Silent_p.R478R	p.R604R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2175	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1812C>T	CCDS12948.1																																																																																				0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			7	181	0	0	0	1	0	7	181					A	57327998	G	A	57327998	2	1	52	1	0	0	0	0	0	0	0	1	11762	1074	38	1		1	PEG3	19	57327998	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	1083818	57327998	1800985	110	6467											
GART	2618	broad.mit.edu	37	chr21	34878358	34878358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagataacaatatcaatttGtgcagagctatttggttccc	9	7	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:34878358G>A	ENST00000381831.3	-	19	2769	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	836	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATATCAATTTGTGCAGAGCTA	0.418																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2506-2508)Caa>Taa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						129	117	121					21																	34878358		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878358G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2506C>T	21.37:g.34878358G>A	ENSP00000371253:p.Gln836*					GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*	p.Q836*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			19	2769	-			836			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.2506C>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492713	0.96339	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	.	.	.	6.17	1.05	0.20165	.	0.719210	0.14613	N	0.308899	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.0033	11.6304	0.51171	0.1168:0.5242:0.359:0.0	.	.	.	.	X	100;836;836;836;388	.	ENSP00000371236:Q836X	Q	-	1	0	GART	33800228	0.634000	0.27190	0.002000	0.10522	0.413000	0.31143	1.309000	0.33539	-0.070000	0.12908	-0.150000	0.13652	CAA		0.418	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		6	387	0	0	0	1	0	6	387					A	34878358	G	A	34878358	4	1	52	1	0	0	0	0	0	1	0	0	6271	1386	48	2	542	2	GART	21	34878358	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		34878358	13251537	111	6468											
PCBP3	54039	broad.mit.edu	37	chr21	47355186	47355186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggacgccagcccaccGgccagcactcatgagctcac	11	17	3	1	rs576585779	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:47355186G>A	ENST00000400314.1	+	14	1214	c.876G>A	c.(874-876)ccG>ccA	p.P292P	PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400310.1_Silent_p.P272P|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400308.1_Silent_p.P266P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400309.1_Silent_p.P291P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	292					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGCCCACCGGCCAGCACTC	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		17881	0.001		0.0	False		,,,				2504	0.002					ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(874-876)ccG>ccA		poly(rC) binding protein 3							62	70	67					21																	47355186		2075	4200	6275	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355186G>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.876G>A	21.37:g.47355186G>A						PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.P272P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400308.1_Silent_p.P266P	p.P292P			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	14	1214	+	all_hematologic(128;0.24)		292					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.876G>A	CCDS42974.2																																																																																				0.582	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			20	79	0	0	0	1	0	20	79					A	47355186	G	A	47355186	2	1	52	1	0	0	0	0	0	0	0	1	11544	1103	39	1		1	PCBP3	21	47355186	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	12476828	47355186	774709	112	6469											
DMD	1756	broad.mit.edu	37	chrX	32486730	32486730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattctgattgatatttcCggctaatttcagagggcgct	9	8	2	3	rs139772014		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:32486730C>T	ENST00000357033.4	-	23	3253	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1016					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGATATTTCCGGCTAATTTC	0.433																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3046-3048)cGg>cAg		dystrophin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3833		0,0,0,1631,571	79	71	74		3023,3047,2678,3035,2678	-5.4	0	X	dbSNP_134	74	2,6726		0,1,1,2427,1871	no	missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	43,43,43,43,43	0,1,1,4058,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	benign,benign,benign,benign,benign	1008/3678,1016/3686,893/3563,1012/3682,893/3563	32486730	2,10559	2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486730C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3047G>A	X.37:g.32486730C>T	ENSP00000354923:p.Arg1016Gln					DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	p.R1016Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			23	3253	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1016					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3047G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370542	0.05069	0.0	2.97E-4	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.12	-5.38	0.02673	.	0.767750	0.10141	N	0.710788	T	0.21022	0.0506	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.31420	-0.9944	10	0.14252	T	0.57	.	17.6406	0.88135	0.0:0.1026:0.0:0.8974	.	1008;1016;1012	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1008;1012;1016;1016;893	ENSP00000367948:R1012Q;ENSP00000354923:R1016Q	ENSP00000354923:R1016Q	R	-	2	0	DMD	32396651	0.282000	0.24268	0.000000	0.03702	0.004000	0.04260	0.582000	0.23834	-1.546000	0.01717	-0.276000	0.10085	CGG		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	130	0	0	0	1	0	16	130					T	32486730	C	T	32486730	3	4	52	1	0	0	0	0	1	0	0	0	4596	652	23	1	8481	1	DMD	23	32486730	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		32486730	122783830	113	6470											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	567						7	567	---	---	---	---	-	149937528	GGC	-	149937526	7	5	52	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-FB-AAQ0-01A-31D-A40W-08	117450796	149937526	5333034	114	6471											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	240	0	0	0	1	0	5	240					A	150156360	G	A	150156360	2	1	52	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	218834	150156360	5114200	115	6472											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		9	369						9	369	---	---	---	---	-	150817144	GCT	-	150817142	7	5	52	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-FB-AAQ0-01A-31D-A40W-08	660782	150817142	4453418	116	6473											
OXCT2	64064	broad.mit.edu	37	chr1	40236249	40236249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacgttgaaattgcgggCgcttctcctgaagaccacgt	13	11	1	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:40236249C>T	ENST00000327582.5	-	1	771	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	227					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	AAATTGCGGGCGCTTCTCCTG	0.622											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327582.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(679-681)Gcc>Acc		3-oxoacid CoA transferase 2	Succinic acid(DB00139)						35	41	39					1																	40236249		2193	4292	6485	SO:0001583	missense	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40236249C>T	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.679G>A	1.37:g.40236249C>T	ENSP00000361914:p.Ala227Thr		OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	891	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	p.A227T	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	771	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	227					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	c.679G>A	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.614569	0.66672	.	.	ENSG00000198754	ENST00000327582;ENST00000542949	D	0.88201	-2.35	2.58	1.63	0.23807	.	0.055777	0.64402	U	0.000001	D	0.90628	0.7061	.	.	.	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	P;P	0.58660	0.843;0.843	D	0.88046	0.2784	9	0.41790	T	0.15	.	8.6338	0.33935	0.23:0.7699:0.0:0.0	.	227;227	B3KS89;Q9BYC2	.;SCOT2_HUMAN	T	227	ENSP00000361914:A227T	ENSP00000361914:A227T	A	-	1	0	OXCT2	40008836	1.000000	0.71417	0.145000	0.22337	0.003000	0.03518	3.115000	0.50391	0.610000	0.30035	0.604000	0.83254	GCC		0.622	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120		37	328	0	0	0	1	0	37	328					T	40236249	C	T	40236249	3	4	53	1	0	0	0	0	1	0	0	0	11372	768	27	1	878	1	OXCT2	1	40236249	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		40236249	209014372	1	6474											
TMEM59	9528	broad.mit.edu	37	chr1	54518728	54518728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggtggcaagacgccGtatcacccaagaccgagtca	12	14	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:54518728G>A	ENST00000234831.5	-	1	383	c.134C>T	c.(133-135)aCg>aTg	p.T45M	MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	45					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCAAGACGCCGTATCACCCAA	0.657																																						ENST00000234831.5																			0				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(133-135)aCg>aTg		transmembrane protein 59							72	79	76					1																	54518728		2203	4300	6503	SO:0001583	missense	9528					Golgi membrane|integral to membrane		g.chr1:54518728G>A	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.134C>T	1.37:g.54518728G>A	ENSP00000234831:p.Thr45Met					TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M	p.T45M	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN			1	383	-			45					B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	c.134C>T	CCDS586.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296523	0.60086	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.53423	0.63;0.63;0.62	5.12	5.12	0.69794	.	0.049713	0.85682	D	0.000000	T	0.61640	0.2363	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.959;0.931;0.953	T	0.63287	-0.6671	10	0.72032	D	0.01	-9.1589	14.3713	0.66840	0.0:0.1476:0.8524:0.0	.	45;45;45;45	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	M	45	ENSP00000234831:T45M;ENSP00000397772:T45M;ENSP00000360388:T45M	ENSP00000234831:T45M	T	-	2	0	TMEM59	54291316	1.000000	0.71417	0.989000	0.46669	0.173000	0.22820	7.028000	0.76470	2.653000	0.90120	0.655000	0.94253	ACG		0.657	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		6	283	0	0	0	1	0	6	283					A	54518728	G	A	54518728	3	1	53	1	0	0	0	0	1	0	0	0	16237	1145	40	1	869	1	TMEM59	1	54518728	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	14282479	54518728	194731893	2	6475											
ZRANB2	9406	broad.mit.edu	37	chr1	71532487	71532487	+	Frame_Shift_Del	DEL	T	T	-													tgaccgtgatcttgttcgtcTttttttgcgatcaccagatg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:71532487delT	ENST00000370920.3	-	9	1202	c.901delA	c.(901-903)agafs	p.R302fs	ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Frame_Shift_Del_p.R302fs|ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	302	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTTGTTCGTCTTTTTTTGCGA	0.383																																						ENST00000370920.3																			1	Substitution - Nonsense(1)	p.R301*(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(901-903)gafs		zinc finger, RAN-binding domain containing 2							125	121	122					1																	71532487		2203	4300	6503	SO:0001589	frameshift_variant	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71532487delT	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.901delA	1.37:g.71532487delT	ENSP00000359958:p.Arg302fs					ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Frame_Shift_Del_p.R302fs|ZRANB2-AS1_ENST00000426999.1_RNA	p.R302fs	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			9	1202	-			302			Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Frame_Shift_Del	DEL	ENST00000370920.3	37	c.901delA	CCDS659.1																																																																																				0.383	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		7	581						7	581	---	---	---	---	-	71532487	T	-	71532487	7	5	53	1	0	1	0	1	0	0	0	0	18276	1617	56	0	137	0	ZRANB2	1	71532487	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ1-01A-12D-A40W-08	17013759	71532487	177718134	3	6476											
FLG	2312	broad.mit.edu	37	chr1	152282228	152282228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctaccactggaccctcGgtttccactgtctccgacta	8	16	1	0	rs188394023		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:152282228G>A	ENST00000368799.1	-	3	5169	c.5134C>T	c.(5134-5136)Cga>Tga	p.R1712*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	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)			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)			CTGGACCCTCGGTTTCCACTG	0.587									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		20119	0.001		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				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						c.(5134-5136)Cga>Tga		filaggrin							224	228	227					1																	152282228		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152282228G>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.5134C>T	1.37:g.152282228G>A	ENSP00000357789:p.Arg1712*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1712*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5169	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1712			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.5134C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	41	8.752868	0.98941	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.51	-1.23	0.09465	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.6399	0.02750	0.1149:0.1803:0.3369:0.3679	.	.	.	.	X	1712	.	ENSP00000357789:R1712X	R	-	1	2	FLG	150548852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.579000	0.00907	-0.196000	0.10366	-0.840000	0.03056	CGA		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		248	1086	0	0	0	1	0	248	1086					A	152282228	G	A	152282228	4	1	53	1	0	0	0	0	0	1	0	0	5947	1124	39	1	7055	1	FLG	1	152282228	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	80749741	152282228	96968393	4	6477											
ATP8B2	57198	broad.mit.edu	37	chr1	154316375	154316375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgcctccaggagtacGcaggggaagggctgaggacc	15	12	1	1	rs141457358		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:154316375G>A	ENST00000368489.3	+	18	1864	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	608					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGAGTACGCAGGGGAAGG	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20116	0.0		0.0	False		,,,				2504	0.0					ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1864-1866)Gca>Aca		ATPase, aminophospholipid transporter, class I, type 8B, member 2		G	THR/ALA	0,4406		0,0,2203	43	42	42		1864	5.6	0.3	1	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP8B2	NM_020452.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	622/1224	154316375	1,13005	2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154316375G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1864G>A	1.37:g.154316375G>A	ENSP00000357475:p.Ala622Thr						p.A622T	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		18	1864	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		608					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1864G>A	CCDS1066.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.57	3.852315	0.71719	0.0	1.16E-4	ENSG00000143515	ENST00000368489	D	0.86297	-2.1	5.64	5.64	0.86602	.	0.059984	0.64402	D	0.000004	D	0.95865	0.8654	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96491	0.9364	10	0.87932	D	0	.	18.4499	0.90700	0.0:0.0:1.0:0.0	.	622	P98198-3	.	T	622	ENSP00000357475:A622T	ENSP00000357475:A622T	A	+	1	0	ATP8B2	152582999	1.000000	0.71417	0.288000	0.24862	0.015000	0.08874	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	GCA		0.592	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		44	197	0	0	0	1	0	44	197					A	154316375	G	A	154316375	3	1	53	1	0	0	0	0	1	0	0	0	1196	1087	38	1	2064	1	ATP8B2	1	154316375	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2034147	154316375	94934246	5	6478											
KCTD3	51133	broad.mit.edu	37	chr1	215747170	215747171	+	Frame_Shift_Ins	INS	-	-	T													cttatgtggattccagattcINSttttttttccaggtatgtct							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:215747170_215747171insT	ENST00000259154.4	+	2	419_420	c.125_126insT	c.(124-129)tcttttfs	p.SF42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCAGATTCTTTTTTTTCCA	0.228																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tttfs		potassium channel tetramerization domain containing 3																																				SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747170_215747171insT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.133dupT	1.37:g.215747178_215747178dupT	ENSP00000259154:p.Ser42fs						p.F42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	419_420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Ins	INS	ENST00000259154.4	37	c.125_126insT	CCDS1515.1																																																																																				0.228	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		8	817						8	817	---	---	---	---	T	215747171	-	T	215747170	7	5	53	1	0	1	1	0	0	0	0	0	8140	913	32	0	131	0	KCTD3	1	215747170	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	61430795	215747170	33503451	6	6479											
THADA	63892	broad.mit.edu	37	chr2	43787408	43787408	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttttgataacttcatcaGaagatcaaatgctaaaattt	5	5	3	3	rs78531159		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:43787408G>A	ENST00000405006.4	-	16	2779	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	THADA_ENST00000330266.7_Silent_p.L520L|THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000405975.2_Silent_p.L810L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	810										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTTCATCAGAAGATCAAAT	0.338																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(2428-2430)Ctg>Ttg		thyroid adenoma associated							66	66	66					2																	43787408		1820	4071	5891	SO:0001819	synonymous_variant	63892						binding	g.chr2:43787408G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2428C>T	2.37:g.43787408G>A						THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000330266.7_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000405975.2_Silent_p.L810L	p.L810L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			16	2779	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	810					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.2428C>T	CCDS46268.1																																																																																				0.338	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		24	67	0	0	0	1	0	24	67					A	43787408	G	A	43787408	2	1	53	1	0	0	0	0	0	0	0	1	15892	933	33	2		2	THADA	2	43787408	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		43787408	199411965	7	6480											
NCKAP5	344148	broad.mit.edu	37	chr2	133541011	133541011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgttatggcttttggCgggtgatgaggatgatgagg	19	3	0	4	rs371372513		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:133541011C>T	ENST00000409261.1	-	14	3746	c.3373G>A	c.(3373-3375)Gcc>Acc	p.A1125T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.							p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1125S(1)	kidney(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3373-3375)Gcc>Acc		NCK-associated protein 5							157	164	162					2																	133541011		2094	4227	6321	SO:0001583	missense	344148						protein binding	g.chr2:133541011C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3373G>A	2.37:g.133541011C>T	ENSP00000387128:p.Ala1125Thr					NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.A1125T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3746	-			1125			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3373G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	1.009	-0.688367	0.03328	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09723	2.95;2.95	5.24	1.46	0.22682	.	0.992366	0.08158	N	0.988883	T	0.03915	0.0110	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	10	0.20046	T	0.44	.	1.7347	0.02939	0.5677:0.1727:0.095:0.1646	.	1125	O14513	NCKP5_HUMAN	T	1125	ENSP00000387128:A1125T;ENSP00000380603:A1125T	ENSP00000380603:A1125T	A	-	1	0	NCKAP5	133257481	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.091000	0.17302	-0.291000	0.09656	GCC		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		6	779	0	0	0	1	0	6	779					T	133541011	C	T	133541011	3	4	53	1	0	0	0	0	1	0	0	0	10265	768	27	1	2384	1	NCKAP5	2	133541011	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	89753603	133541011	109658362	8	6481											
EPC2	26122	broad.mit.edu	37	chr2	149447828	149447829	+	Frame_Shift_Ins	INS	-	-	A													agcacagcaagtgtttagagINSaaaaaaaagagagtatggtc							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:149447828_149447829insA	ENST00000258484.6	+	2	233_234	c.199_200insA	c.(199-201)gaafs	p.E67fs	EPC2_ENST00000409654.1_Frame_Shift_Ins_p.E67fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	67					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTGTTTAGAGAAAAAAAAGAG	0.366																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(199-201)aaafs		enhancer of polycomb homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149447828_149447829insA	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.207dupA	2.37:g.149447836_149447836dupA	ENSP00000258484:p.Glu67fs					EPC2_ENST00000409654.1_Frame_Shift_Ins_p.K67fs	p.K67fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	2	233_234	+			67					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Frame_Shift_Ins	INS	ENST00000258484.6	37	c.199_200insA	CCDS46422.1																																																																																				0.366	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		9	382						9	382	---	---	---	---	A	149447829	-	A	149447828	7	5	53	1	0	1	1	0	0	0	0	0	5179	943	33	0	205	0	EPC2	2	149447828	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	15906817	149447828	93751545	9	6482											
MAP1D	254042	broad.mit.edu	37	chr2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacacagtatagttttgCcggctgcagtttcttcagct	8	10	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:172926348C>T	ENST00000315796.4	+	2	550	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	55					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TATAGTTTTGCCGGCTGCAGT	0.398																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(163-165)Ccg>Tcg		methionyl aminopeptidase type 1D (mitochondrial)							210	229	223					2																	172926348		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172926348C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.163C>T	2.37:g.172926348C>T	ENSP00000315152:p.Pro55Ser					METAP1D_ENST00000488581.1_3'UTR	p.P55S	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			2	550	+			55					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.163C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671201	0.88348	.	.	ENSG00000172878	ENST00000315796	T	0.47869	0.83	5.92	5.92	0.95590	Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.87097	2.86	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	T	0.75929	-0.3144	10	0.87932	D	0	-1.1687	20.3151	0.98650	0.0:1.0:0.0:0.0	.	55	Q6UB28	AMP1D_HUMAN	S	55	ENSP00000315152:P55S	ENSP00000315152:P55S	P	+	1	0	METAP1D	172634594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.955000	0.70306	2.809000	0.96659	0.467000	0.42956	CCG		0.398	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		8	1351	0	0	0	1	0	8	1351					T	172926348	C	T	172926348	3	4	53	1	0	0	0	0	1	0	0	0	9270	739	26	2	169	2	MAP1D	2	172926348	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	23478520	172926348	70273025	10	6483											
HECW2	57520	broad.mit.edu	37	chr2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacgcttgatgatgggaCggctcttggcaaatttgtct	12	7	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	271	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(811-813)cGt>cAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							131	137	135					2																	197187274		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197187274C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.812G>A	2.37:g.197187274C>T	ENSP00000260983:p.Arg271His					HECW2_ENST00000409111.1_5'UTR	p.R271H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			7	994	-			271			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.812G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137069	0.94517	.	.	ENSG00000138411	ENST00000260983	T	0.46451	0.87	5.49	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.191653	0.47455	D	0.000223	T	0.44973	0.1319	M	0.75447	2.3	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.51741	-0.8667	10	0.87932	D	0	.	14.9482	0.71050	0.0:0.9304:0.0:0.0696	.	271	Q9P2P5	HECW2_HUMAN	H	271	ENSP00000260983:R271H	ENSP00000260983:R271H	R	-	2	0	HECW2	196895519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.878000	0.98634	0.650000	0.86243	CGT		0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		63	516	0	0	0	1	0	63	516					T	197187274	C	T	197187274	3	4	53	1	0	0	0	0	1	0	0	0	7073	536	19	1	3998	1	HECW2	2	197187274	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	24260926	197187274	46012099	11	6484											
FZD7	8324	broad.mit.edu	37	chr2	202900003	202900003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttccccttctcatgcccCcgtcagctcaaggtgccccc	7	21	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:202900003C>T	ENST00000286201.1	+	1	694	c.633C>T	c.(631-633)ccC>ccT	p.P211P	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	211					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTCATGCCCCCGTCAGCTCA	0.711											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(631-633)ccC>ccT		frizzled family receptor 7							12	14	14					2																	202900003		2143	4222	6365	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900003C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.633C>T	2.37:g.202900003C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.P211P	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	694	+			211					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.633C>T	CCDS2351.1																																																																																				0.711	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		7	124	0	0	0	1	0	7	124					T	202900003	C	T	202900003	2	4	53	1	0	0	0	0	0	0	0	1	6162	610	22	2		2	FZD7	2	202900003	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	5712729	202900003	40299370	12	6485											
SPEG	10290	broad.mit.edu	37	chr2	220356970	220356970	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcttgcgaaaggttctctCtgtacatccctggtgagtga	10	10	3	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:220356970C>A	ENST00000312358.7	+	40	9731	c.9599C>A	c.(9598-9600)tCt>tAt	p.S3200Y	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3200	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGGTTCTCTCTGTACATCCC	0.612																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9598-9600)tCt>tAt		SPEG complex locus							83	88	86					2																	220356970		2045	4187	6232	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220356970C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9599C>A	2.37:g.220356970C>A	ENSP00000311684:p.Ser3200Tyr					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.S3200Y	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	40	9731	+		Renal(207;0.0183)	3200			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9599C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218399	0.58560	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66099	-0.19	4.29	4.29	0.51040	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	0.31450	U	0.007628	T	0.70675	0.3251	L	0.48362	1.52	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.73235	-0.4047	10	0.62326	D	0.03	.	13.2469	0.60028	0.0:0.8395:0.1605:0.0	.	3200	Q15772	SPEG_HUMAN	Y	3200	ENSP00000311684:S3200Y	ENSP00000265327:S3200Y	S	+	2	0	SPEG	220065214	0.998000	0.40836	1.000000	0.80357	0.935000	0.57460	3.968000	0.56809	2.229000	0.72834	0.467000	0.42956	TCT		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		5	286	1	0	1	1	1	5	286					A	220356970	C	A	220356970	3	1	53	1	0	0	0	0	1	0	0	0	15088	913	32	3	9769	3	SPEG	2	220356970	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	17456967	220356970	22842403	13	6486											
UBE2F	140739	broad.mit.edu	37	chr2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttttatttcaggatgtcGtttggggattaaactctttg	9	5	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	140					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TCAGGATGTCGTTTGGGGATT	0.338																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(418-420)Gtt>Att		ubiquitin-conjugating enzyme E2F (putative)							125	115	118					2																	238940869		2203	4299	6502	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238940869G>A	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.418G>A	2.37:g.238940869G>A	ENSP00000272930:p.Val140Ile					UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F-SCLY_ENST00000449191.1_Intron	p.V140I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	8	612	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	140					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.418G>A	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260616	0.23051	.	.	ENSG00000184182	ENST00000272930;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.87	4.87	0.63330	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.063698	0.64402	N	0.000007	T	0.50514	0.1620	N	0.05554	-0.025	0.44719	D	0.997713	B;B	0.17852	0.024;0.0	B;B	0.16289	0.015;0.004	T	0.47156	-0.9139	10	0.30854	T	0.27	-20.783	13.8838	0.63696	0.0:0.0:1.0:0.0	.	108;140	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	140;108;140;108;116;118;140;130	ENSP00000272930:V140I;ENSP00000390813:V108I;ENSP00000387299:V140I;ENSP00000399183:V108I;ENSP00000386680:V116I;ENSP00000387060:V118I;ENSP00000406113:V140I;ENSP00000414619:V130I	ENSP00000272930:V140I	V	+	1	0	UBE2F	238605608	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.227000	0.78070	2.419000	0.82065	0.655000	0.94253	GTT		0.338	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		9	157	0	0	0	1	0	9	157					A	238940869	G	A	238940869	3	1	53	1	0	0	0	0	1	0	0	0	16909	1145	40	1	444	1	UBE2F	2	238940869	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	18583899	238940869	4258504	14	6487											
DCLK3	85443	broad.mit.edu	37	chr3	36759634	36759634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggatatagaggatcacGccagcagcccacatgtccac	10	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:36759634G>A	ENST00000416516.2	-	4	2110	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G540G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGGATCACGCCAGCAGCCC	0.547																																						ENST00000416516.2																			1	Substitution - coding silent(1)	p.G540G(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1618-1620)ggC>ggT		doublecortin-like kinase 3							143	157	152					3																	36759634		2141	4281	6422	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36759634G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1620C>T	3.37:g.36759634G>A						DCLK3_ENST00000498047.1_5'UTR	p.G540G	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			4	2110	-			540			Protein kinase.			Silent	SNP	ENST00000416516.2	37	c.1620C>T	CCDS43064.1																																																																																				0.547	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		131	585	0	0	0	1	0	131	585					A	36759634	G	A	36759634	2	1	53	1	0	0	0	0	0	0	0	1	4304	1074	38	1		1	DCLK3	3	36759634	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		36759634	161262796	15	6488											
NKTR	4820	broad.mit.edu	37	chr3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-													ctccactagaatttggtgaaGaggaggaggaggagattgat							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	481						7	481	---	---	---	---	-	42680271	GAG	-	42680269	7	5	53	1	0	1	0	1	0	0	0	0	10490	943	33	0	3119	0	NKTR	3	42680269	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ1-01A-12D-A40W-08	5920635	42680269	155342161	16	6489											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	155						9	155	---	---	---	---	-	45636545	CAG	-	45636543	7	5	53	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-FB-AAQ1-01A-12D-A40W-08	2956274	45636543	152385887	17	6490											
BSN	8927	broad.mit.edu	37	chr3	49662573	49662574	+	In_Frame_Ins	INS	-	-	GTA													gtccccgcaggacgctgcagINSgtagacagcaggacacagag							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:49662573_49662574insGTA	ENST00000296452.4	+	2	504_505	c.390_391insGTA	c.(391-393)gta>GTAgta	p.131_131V>VV		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	131					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACGCTGCAGGTAGACAGCAG	0.653																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(388-393)cataga>caGTAtaga		bassoon presynaptic cytomatrix protein																																				SO:0001652	inframe_insertion	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662573_49662574insGTA	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.391_393dupGTA	3.37:g.49662574_49662576dupGTA	ENSP00000296452:p.Val131dup						p.130_130H>QY	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	504_505	+			130					O43161|Q7LGH3	In_Frame_Ins	INS	ENST00000296452.4	37	c.390_391insGTA	CCDS2800.1																																																																																				0.653	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		33	138						33	138	---	---	---	---	GTA	49662574	-	GTA	49662573	7	5	53	1	0	1	1	0	0	0	0	0	1534	991	35	0	396	0	BSN	3	49662573	In_Frame_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	4026030	49662573	148359857	18	6491											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	480						7	480	---	---	---	---	-	53529195	GAT	-	53529193	7	5	53	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-FB-AAQ1-01A-12D-A40W-08	3866620	53529193	144493237	19	6492											
FILIP1L	11259	broad.mit.edu	37	chr3	99648785	99648785	+	Frame_Shift_Del	DEL	T	T	-													tctggagagcctctaacaccTtttttggagtgacaaaccca							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:99648785delT	ENST00000354552.3	-	3	811	c.341delA	c.(340-342)aagfs	p.K114fs	FILIP1L_ENST00000331335.5_Frame_Shift_Del_p.K114fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Frame_Shift_Del_p.K114fs|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	114						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTCTAACACCTTTTTTGGAGT	0.443																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(340-342)agfs		filamin A interacting protein 1-like							133	126	128					3																	99648785		1883	4109	5992	SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99648785delT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.341delA	3.37:g.99648785delT	ENSP00000346560:p.Lys114fs					CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K114fs|FILIP1L_ENST00000398326.2_Frame_Shift_Del_p.K114fs|CMSS1_ENST00000496116.1_Intron	p.K114fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			3	811	-			114					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Del	DEL	ENST00000354552.3	37	c.341delA	CCDS43117.1																																																																																				0.443	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	577						8	577	---	---	---	---	-	99648785	T	-	99648785	7	5	53	1	0	1	0	1	0	0	0	0	5920	1609	56	0	3103	0	FILIP1L	3	99648785	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ1-01A-12D-A40W-08	46119592	99648785	98373645	20	6493											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		8	310						8	310	---	---	---	---	-	149260196	CTG	-	149260194	7	5	53	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-FB-AAQ1-01A-12D-A40W-08	49611409	149260194	48762236	21	6494											
BCHE	590	broad.mit.edu	37	chr3	165547794	165547794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacacccaccaaaatctggGtttttttaaattgtccaagt	5	9	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:165547794G>T	ENST00000264381.3	-	2	1194	c.1028C>A	c.(1027-1029)aCc>aAc	p.T343N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	343					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAA	0.383																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55	GRCh37	CI951904	BCHE	I		c.(1027-1029)aCc>aAc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						26	27	27					3																	165547794		2196	4281	6477	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547794G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1028C>A	3.37:g.165547794G>T	ENSP00000264381:p.Thr343Asn					BCHE_ENST00000540653.1_Intron	p.T343N	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1194	-			343					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1028C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913768	0.33815	.	.	ENSG00000114200	ENST00000264381	D	0.95342	-3.68	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.151216	0.64402	D	0.000015	D	0.97315	0.9122	M	0.86028	2.79	0.80722	D	1	P	0.48834	0.916	P	0.61477	0.889	D	0.97737	1.0206	10	0.87932	D	0	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	343	P06276	CHLE_HUMAN	N	343	ENSP00000264381:T343N	ENSP00000264381:T343N	T	-	2	0	BCHE	167030488	1.000000	0.71417	0.999000	0.59377	0.272000	0.26649	3.334000	0.52097	2.652000	0.90054	0.655000	0.94253	ACC		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			18	173	1	0	3.52763e-06	1	3.54954e-06	18	173					T	165547794	G	T	165547794	3	4	53	1	0	0	0	0	1	0	0	0	1359	1261	44	3	792	3	BCHE	3	165547794	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	16287600	165547794	32474636	22	6495											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		10	677						10	677	---	---	---	---	-	946207	TG	-	946206	7	5	53	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-FB-AAQ1-01A-12D-A40W-08		946206	190208070	23	6496											
BEND4	389206	broad.mit.edu	37	chr4	42127607	42127607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagacctacctctgtcGgctggtcagctggctgtggt	13	12	2	1	rs374001079		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:42127607G>A	ENST00000502486.1	-	4	1718	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	BEND4_ENST00000504360.1_Missense_Mutation_p.P376L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	380										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TACCTCTGTCGGCTGGTCAGC	0.458																																						ENST00000502486.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1138-1140)cCg>cTg		BEN domain containing 4		G	LEU/PRO,LEU/PRO	2,3864		0,2,1931	105	110	108		1139,1139	5.7	1	4		108	0,8260		0,0,4130	no	missense,missense	BEND4	NM_207406.3,NM_001159547.1	98,98	0,2,6061	AA,AG,GG		0.0,0.0517,0.0165	benign,benign	380/535,380/442	42127607	2,12124	1933	4130	6063	SO:0001583	missense	389206							g.chr4:42127607G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1139C>T	4.37:g.42127607G>A	ENSP00000421169:p.Pro380Leu					BEND4_ENST00000504360.1_Missense_Mutation_p.P376L	p.P380L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN			4	1718	-			380					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1139C>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219366	0.09863	5.17E-4	0.0	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.67	5.67	0.87782	.	0.061993	0.64402	D	0.000003	T	0.28962	0.0719	N	0.08118	0	0.80722	D	1	P;B;P	0.39862	0.692;0.233;0.692	B;B;B	0.28465	0.09;0.024;0.09	T	0.24799	-1.0150	9	0.09590	T	0.72	-9.3894	19.773	0.96379	0.0:0.0:1.0:0.0	.	302;380;380	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	251;380;376	.	ENSP00000412495:P251L	P	-	2	0	BEND4	41822364	1.000000	0.71417	0.961000	0.40146	0.018000	0.09664	7.109000	0.77062	2.677000	0.91161	0.655000	0.94253	CCG		0.458	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		52	136	0	0	0	1	0	52	136					A	42127607	G	A	42127607	3	1	53	1	0	0	0	0	1	0	0	0	1401	1116	39	1	477	1	BEND4	4	42127607	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	41181401	42127607	149026669	24	6497											
TIGD2	166815	broad.mit.edu	37	chr4	90034245	90034245	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacggaattggtgaatcCacagttcgtgatattaaaaa	10	5	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:90034245C>A	ENST00000317005.2	+	1	278	c.120C>A	c.(118-120)tcC>tcA	p.S40S	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	40	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTGGTGAATCCACAGTTCGTG	0.363																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(118-120)tcC>tcA		tigger transposable element derived 2							99	100	100					4																	90034245		2203	4300	6503	SO:0001819	synonymous_variant	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034245C>A	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.120C>A	4.37:g.90034245C>A							p.S40S	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	278	+		Hepatocellular(203;0.114)	40			HTH psq-type.			Silent	SNP	ENST00000317005.2	37	c.120C>A	CCDS3633.1																																																																																				0.363	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		44	290	1	0	6.48837e-15	1	6.87003e-15	44	290					A	90034245	C	A	90034245	2	1	53	1	0	0	0	0	0	0	0	1	15948	581	21	3		3	TIGD2	4	90034245	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	47906638	90034245	101120031	25	6498											
PPP3CA	5530	broad.mit.edu	37	chr4	102117102	102117102	+	Frame_Shift_Del	DEL	T	T	-													gcgcatcaatatccagcaaaTttttttcctgtcgaagaatt							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:102117102delT	ENST00000394854.3	-	2	913	c.230delA	c.(229-231)aatfs	p.N77fs	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.N77fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	77	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATCCAGCAAATTTTTTTCCTG	0.418																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(229-231)atfs		protein phosphatase 3, catalytic subunit, alpha isozyme							96	99	98					4																	102117102		2203	4300	6503	SO:0001589	frameshift_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102117102delT		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.230delA	4.37:g.102117102delT	ENSP00000378323:p.Asn77fs					PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.N77fs	p.N77fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	2	913	-			77			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Frame_Shift_Del	DEL	ENST00000394854.3	37	c.230delA	CCDS34037.1																																																																																				0.418	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		7	415						7	415	---	---	---	---	-	102117102	T	-	102117102	7	5	53	1	0	1	0	1	0	0	0	0	12444	1493	52	0	1387	0	PPP3CA	4	102117102	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ1-01A-12D-A40W-08	12082857	102117102	89037174	26	6499											
AP1AR	55435	broad.mit.edu	37	chr4	113181980	113181980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcattatgattccattgccGaaaaacaaaaagatcttgat	7	7	1	3	rs201026911		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:113181980G>A	ENST00000274000.5	+	5	599	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	82	Interaction with AP1G1.				cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TTCCATTGCCGAAAAACAAAA	0.299																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(244-246)Gaa>Aaa		adaptor-related protein complex 1 associated regulatory protein		G	LYS/GLU,LYS/GLU	0,4404		0,0,2202	32	33	33		244,244	5.5	1	4		33	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	AP1AR	NM_001128426.1,NM_018569.4	56,56	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	82/270,82/303	113181980	1,12989	2202	4293	6495	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113181980G>A	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.244G>A	4.37:g.113181980G>A	ENSP00000274000:p.Glu82Lys					AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K	p.E82K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			5	599	+			82			Interaction with AP1G1.		B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.244G>A	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991977	0.74703	0.0	1.16E-4	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.52526	0.71;0.66	5.51	5.51	0.81932	.	0.052746	0.85682	D	0.000000	T	0.44685	0.1305	L	0.50333	1.59	0.45607	D	0.998545	P;P;P	0.47034	0.889;0.889;0.889	B;B;B	0.36922	0.236;0.236;0.236	T	0.52764	-0.8532	10	0.66056	D	0.02	-10.341	19.3993	0.94621	0.0:0.0:1.0:0.0	.	82;82;82	B2RCV7;Q63HQ0-2;Q63HQ0	.;.;AP1AR_HUMAN	K	82	ENSP00000274000:E82K;ENSP00000309023:E82K	ENSP00000274000:E82K	E	+	1	0	AP1AR	113401429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.042000	0.70996	2.579000	0.87056	0.585000	0.79938	GAA		0.299	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		4	146	0	0	0	1	0	4	146					A	113181980	G	A	113181980	3	1	53	1	0	0	0	0	1	0	0	0	730	1059	37	1	262	1	AP1AR	4	113181980	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	11064878	113181980	77972296	27	6500											
DDX60	55601	broad.mit.edu	37	chr4	169182016	169182016	+	Splice_Site	DEL	A	A	-													aattaaattaaataacttacAaaaaaaatagtgcaggtaac							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:169182016delA	ENST00000393743.3	-	25	3689	c.3398delT	c.(3397-3399)tta>ta	p.L1133fs	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1133					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AATAACTTACAAAAAAAATAG	0.383																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.e25+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							55	62	60					4																	169182016		2201	4300	6501	SO:0001630	splice_region_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169182016delA	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3398+1T>-	4.37:g.169182016delA						DDX60_ENST00000505393.1_5'UTR	p.L1133_splice	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	25	3689	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1133					Q6PK35|Q9NVE3	Splice_Site	DEL	ENST00000393743.3	37	c.3398_splice	CCDS34097.1																																																																																				0.383	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	Frame_Shift_Del	7	366						7	366	---	---	---	---	-	169182016	A	-	169182016	8	5	53	1	0	1	0	1	0	0	1	0	4389	144	5	0	1796	0	DDX60	4	169182016	Splice_Site	DEL	A	TCGA-FB-AAQ1-01A-12D-A40W-08	56000036	169182016	21972260	28	6501											
STOX2	56977	broad.mit.edu	37	chr4	184930914	184930914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgccagctacgatccctcGggaagtagagatggaaatca	11	11	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:184930914G>A	ENST00000308497.4	+	3	2358	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	308					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACGATCCCTCGGGAAGTAGAG	0.502																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(922-924)cGg>cAg		storkhead box 2							25	25	25					4																	184930914		1942	4145	6087	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930914G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.923G>A	4.37:g.184930914G>A	ENSP00000311257:p.Arg308Gln					STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q	p.R308Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2358	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	308					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.923G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854494	0.71719	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.85629	-1.07;-2.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.91940	0.5562	10	0.72032	D	0.01	-18.9454	20.6634	0.99662	0.0:0.0:1.0:0.0	.	308	Q9P2F5	STOX2_HUMAN	Q	308	ENSP00000311257:R308Q;ENSP00000390127:R308Q	ENSP00000311257:R308Q	R	+	2	0	STOX2	185167908	1.000000	0.71417	0.986000	0.45419	0.053000	0.15095	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	CGG		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		24	82	0	0	0	1	0	24	82					A	184930914	G	A	184930914	3	1	53	1	0	0	0	0	1	0	0	0	15372	1116	39	1	933	1	STOX2	4	184930914	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	15748898	184930914	6223362	29	6502											
NIPBL	25836	broad.mit.edu	37	chr5	36985035	36985035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttcttcaggaagatAttgttggaagtcttaaatct	8	5	5	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:36985035A>G	ENST00000282516.8	+	10	2252	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	585					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)			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)			TCAGGAAGATATTGTTGGAAG	0.373																																						ENST00000282516.8																			0				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						c.(1753-1755)Att>Gtt		Nipped-B homolog (Drosophila)							79	79	79					5																	36985035		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.chr5:36985035A>G	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.1753A>G	5.37:g.36985035A>G	ENSP00000282516:p.Ile585Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V|NIPBL_ENST00000504430.1_3'UTR	p.I585V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2252	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		585					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1753A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.275777	0.00254	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92752	-3.1;-3.1	5.98	-0.428	0.12306	.	0.570820	0.19739	N	0.107161	T	0.80813	0.4695	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.66658	-0.5868	10	0.27785	T	0.31	.	7.573	0.27920	0.6467:0.1081:0.2451:0.0	.	585;585	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	585	ENSP00000282516:I585V;ENSP00000406266:I585V	ENSP00000282516:I585V	I	+	1	0	NIPBL	37020792	0.008000	0.16893	0.990000	0.47175	0.789000	0.44602	-0.310000	0.08135	-0.064000	0.13043	-1.140000	0.01884	ATT		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		27	353	0	0	0	1	0	27	353					G	36985035	A	G	36985035	3	3	53	1	0	0	0	0	1	0	0	0	10470	449	16	4	1787	4	NIPBL	5	36985035	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08		36985035	143930225	30	6503											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	258						7	258	---	---	---	---	-	44388717	AGC	-	44388715	7	5	53	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-FB-AAQ1-01A-12D-A40W-08	7403680	44388715	136526545	31	6504											
IL31RA	133396	broad.mit.edu	37	chr5	55203287	55203287	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttatgccaaagaaggCggtatgaatggacaagaccc	12	9	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:55203287C>T	ENST00000447346.2	+	10	1418	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	IL31RA_ENST00000354961.4_Splice_Site_p.G432G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000396834.1_Splice_Site_p.G432G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	419	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.e12+1		interleukin 31 receptor A							99	87	91					5																	55203287		2203	4300	6503	SO:0001630	splice_region_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55203287C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1354+1C>T	5.37:g.55203287C>T						IL31RA_ENST00000490985.1_Splice_Site_p.G309_splice|IL31RA_ENST00000396836.2_Splice_Site_p.G451_splice|IL31RA_ENST00000447346.2_Splice_Site_p.G451_splice|IL31RA_ENST00000354961.4_Splice_Site_p.G432_splice|IL31RA_ENST00000359040.5_Splice_Site_p.G451_splice|IL31RA_ENST00000297015.3_Splice_Site_p.G309_splice	p.G432_splice	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			12	1792	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	419			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Splice_Site	SNP	ENST00000447346.2	37	c.1297_splice	CCDS3970.2																																																																																				0.463	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	Silent	36	216	0	0	0	1	0	36	216					T	55203287	C	T	55203287	5	4	53	1	0	0	0	0	0	0	1	0	7721	782	27	1	1391	1	IL31RA	5	55203287	Splice_Site	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	10814572	55203287	125711973	32	6505											
DEPDC1B	55789	broad.mit.edu	37	chr5	59941390	59941390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcggtggacaagacgGcaagctggcacctctccaat	12	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:59941390G>A	ENST00000265036.5	-	4	574	c.507C>T	c.(505-507)tgC>tgT	p.C169C	DEPDC1B_ENST00000545085.1_Silent_p.C142C|DEPDC1B_ENST00000453022.2_Silent_p.C169C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	169					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GGACAAGACGGCAAGCTGGCA	0.438																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(505-507)tgC>tgT		DEP domain containing 1B							80	80	80					5																	59941390		2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59941390G>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.507C>T	5.37:g.59941390G>A						DEPDC1B_ENST00000545085.1_Silent_p.C142C|DEPDC1B_ENST00000453022.2_Silent_p.C169C	p.C169C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			4	574	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	169					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.507C>T	CCDS3977.1																																																																																				0.438	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		5	285	0	0	0	1	0	5	285					A	59941390	G	A	59941390	2	1	53	1	0	0	0	0	0	0	0	1	4456	1195	42	2		2	DEPDC1B	5	59941390	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	4738103	59941390	120973870	33	6506											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			12	1217						12	1217	---	---	---	---	-	79372776	TGA	-	79372774	7	5	53	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-FB-AAQ1-01A-12D-A40W-08	19431384	79372774	101542486	34	6507											
SPRY4	81848	broad.mit.edu	37	chr5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-													gagccgttggtcagaggatgTgctgctgctgctgctcacag							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:141694361_141694363delTGC	ENST00000434127.2	-	2	554_556	c.311_313delGCA	c.(310-315)agcaca>aca	p.S104del	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_In_Frame_Del_p.S127del	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	104	Poly-Ser.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.66									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(379-384)aca>a		sprouty homolog 4 (Drosophila)																																				SO:0001651	inframe_deletion	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694361_141694363delTGC	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.311_313delGCA	5.37:g.141694370_141694372delTGC	ENSP00000399468:p.Ser104del					SPRY4_ENST00000434127.2_In_Frame_Del_p.ST104del	p.ST127del	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	566_568	-		all_hematologic(541;0.118)	104					A4FVB2|A4FVB3|Q6QIX2|Q9C003	In_Frame_Del	DEL	ENST00000434127.2	37	c.380_382delGCA	CCDS47296.1																																																																																				0.66	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			9	577						9	577	---	---	---	---	-	141694363	TGC	-	141694361	7	5	53	1	0	1	0	1	0	0	0	0	15160	1696	59	0	590	0	SPRY4	5	141694361	In_Frame_Del	DEL	TGC	TCGA-FB-AAQ1-01A-12D-A40W-08	62321587	141694361	39220899	35	6508											
SPINK5	11005	broad.mit.edu	37	chr5	147510862	147510862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgagtattgcccaggaTaggttatctttgtccaaagg	10	9	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:147510862T>C	ENST00000256084.7	+	31	3047	c.3005T>C	c.(3004-3006)aTa>aCa	p.I1002T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I1032T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1002	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCCAGGATAGGTTATCTT	0.428																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(3094-3096)aTa>aCa		serine peptidase inhibitor, Kazal type 5							257	241	246					5																	147510862		1921	4133	6054	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147510862T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3005T>C	5.37:g.147510862T>C	ENSP00000256084:p.Ile1002Thr					SPINK5_ENST00000256084.7_Missense_Mutation_p.I1002T	p.I1032T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		32	3168	+			1002			Kazal-like 15.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.3095T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742273	0.30865	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.74421	-0.84;-0.84	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (2);	0.845660	0.10791	N	0.633739	T	0.61223	0.2330	N	0.16478	0.41	0.28781	N	0.899811	P;B	0.35139	0.486;0.254	B;B	0.39465	0.199;0.3	T	0.51764	-0.8664	10	0.14252	T	0.57	-0.0909	11.1055	0.48201	0.0:0.0:0.0:1.0	.	1032;1002	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	1032;1002	ENSP00000352936:I1032T;ENSP00000256084:I1002T	ENSP00000256084:I1002T	I	+	2	0	SPINK5	147491055	1.000000	0.71417	0.907000	0.35723	0.764000	0.43329	2.219000	0.42899	2.034000	0.60081	0.533000	0.62120	ATA		0.428	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		145	665	0	0	0	1	0	145	665					C	147510862	T	C	147510862	3	2	53	1	0	0	0	0	1	0	0	0	15114	1406	49	4	3233	4	SPINK5	5	147510862	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	5816501	147510862	33404398	36	6509											
OR10C1	442194	broad.mit.edu	37	chr6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcctgggctcctacGggcgtatcctcgttaccatc	9	16	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCTCCTACGGGCGTATCCT	0.582																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(652-654)Ggg>Agg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							199	213	208					6																	29408444		1511	2708	4219	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408444G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.652G>A	6.37:g.29408444G>A	ENSP00000419119:p.Gly218Arg					OR11A1_ENST00000377149.1_Intron	p.G218R	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1362	+			218					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.652G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919636	0.17982	.	.	ENSG00000206474	ENST00000444197	T	0.00115	8.71	3.49	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.205323	0.24373	N	0.039086	T	0.00178	0.0005	M	0.81614	2.55	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.27571	-1.0070	10	0.41790	T	0.15	.	7.9844	0.30202	0.0:0.176:0.6423:0.1818	.	218	Q96KK4	O10C1_HUMAN	R	218	ENSP00000419119:G218R	ENSP00000419119:G218R	G	+	1	0	OR10C1	29516423	0.000000	0.05858	0.117000	0.21633	0.024000	0.10985	-0.907000	0.04067	0.667000	0.31107	-0.234000	0.12200	GGG		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			155	600	0	0	0	1	0	155	600					A	29408444	G	A	29408444	3	1	53	1	0	0	0	0	1	0	0	0	10940	1116	39	1	654	1	OR10C1	6	29408444	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		29408444	141706623	37	6510											
PPP1R10	5514	broad.mit.edu	37	chr6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-													ctcctctggcgcctcggaatGgaggaggaggaggaggaggt							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.67	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	271						8	271	---	---	---	---	-	30570266	GGA	-	30570264	7	5	53	1	0	1	0	1	0	0	0	0	12399	1348	47	0	668	0	PPP1R10	6	30570264	In_Frame_Del	DEL	GGA	TCGA-FB-AAQ1-01A-12D-A40W-08	1161820	30570264	140544803	38	6511											
C6orf27	80737	broad.mit.edu	37	chr6	31737463	31737463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcacccggcagcgccGctcctgagtcagggattcca	11	16	3	1	rs576229707		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31737463G>A	ENST00000375688.4	-	9	1506	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	VWA7_ENST00000375686.3_Missense_Mutation_p.R436W|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R436W			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	436	VWFA.					extracellular region (GO:0005576)											CGGCAGCGCCGCTCCTGAGTC	0.572																																						ENST00000375686.3																			0											c.(1306-1308)Cgg>Tgg		von Willebrand factor A domain containing 7							114	124	120					6																	31737463		1508	2708	4216	SO:0001583	missense	80737					extracellular region		g.chr6:31737463G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1306C>T	6.37:g.31737463G>A	ENSP00000364840:p.Arg436Trp					VWA7_ENST00000447450.1_Missense_Mutation_p.R436W|VWA7_ENST00000375688.4_Missense_Mutation_p.R436W|VWA7_ENST00000467576.1_5'UTR	p.R436W	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			9	1543	-			436					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1306C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848586	0.71603	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97710	-4.5;-4.5;-4.5	5.62	4.73	0.59995	von Willebrand factor, type A (1);	0.217788	0.35838	N	0.002942	D	0.95689	0.8598	L	0.43152	1.355	0.30156	N	0.802624	D	0.71674	0.998	P	0.56916	0.809	D	0.92667	0.6146	10	0.37606	T	0.19	-15.2392	11.2808	0.49192	0.0:0.0:0.6566:0.3434	.	436	Q9Y334	G7C_HUMAN	W	436	ENSP00000364840:R436W;ENSP00000364838:R436W;ENSP00000390554:R436W	ENSP00000364838:R436W	R	-	1	2	C6orf27	31845442	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	1.934000	0.40163	1.321000	0.45227	0.561000	0.74099	CGG		0.572	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		47	389	0	0	0	1	0	47	389					A	31737463	G	A	31737463	3	1	53	1	0	0	0	0	1	0	0	0	2369	1086	38	1	1404	1	C6orf27	6	31737463	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1167199	31737463	139377604	39	6512											
VARS	7407	broad.mit.edu	37	chr6	31748522	31748522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccaaaccggagagcatcGgtgccacattcaggaatccc	9	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31748522G>A	ENST00000375663.3	-	24	3197	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	919					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGAGAGCATCGGTGCCACATT	0.612																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2755-2757)acC>acT		valyl-tRNA synthetase	L-Valine(DB00161)						87	80	83					6																	31748522		2203	4300	6503	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31748522G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2757C>T	6.37:g.31748522G>A						VARS_ENST00000482996.1_5'UTR	p.T919T	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			24	3197	-			919					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2757C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910187	0.17833	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.4231	9.2143	0.37337	0.7013:0.0811:0.1308:0.0867	.	.	.	.	X	237	.	.	R	-	1	2	VARS	31856501	0.000000	0.05858	0.237000	0.24090	0.967000	0.64934	-3.317000	0.00514	-2.299000	0.00659	-0.742000	0.03525	CGA		0.612	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		64	275	0	0	0	1	0	64	275					A	31748522	G	A	31748522	2	1	53	1	0	0	0	0	0	0	0	1	17177	1103	39	1		1	VARS	6	31748522	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	11059	31748522	139366545	40	6513											
TNXB	7148	broad.mit.edu	37	chr6	32012898	32012898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatcttgctctggtcGccgtccacgagcaaggcctg	13	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:32012898G>A	ENST00000375244.3	-	32	11013	c.10812C>T	c.(10810-10812)ggC>ggT	p.G3604G	TNXB_ENST00000451343.1_Silent_p.G33G|TNXB_ENST00000375247.2_Silent_p.G3602G			P22105	TENX_HUMAN	tenascin XB	3649	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCTGGTCGCCGTCCACGA	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10810-10812)ggC>ggT		tenascin XB							49	42	44					6																	32012898		1507	2705	4212	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32012898G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10812C>T	6.37:g.32012898G>A						TNXB_ENST00000451343.1_Silent_p.G33G|TNXB_ENST00000375247.2_Silent_p.G3602G	p.G3604G			P22105	TENX_HUMAN			32	11013	-			3649			Fibronectin type-III 28.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10812C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	158	0	0	0	1	0	5	158					A	32012898	G	A	32012898	2	1	53	1	0	0	0	0	0	0	0	1	16398	1074	38	1		1	TNXB	6	32012898	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	264376	32012898	139102169	41	6514											
IP6K3	117283	broad.mit.edu	37	chr6	33690903	33690903	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtctgaacccctccactGagagttttcttccatagtac	6	13	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:33690903G>T	ENST00000293756.4	-	6	1153	c.827C>A	c.(826-828)tCa>tAa	p.S276*	IP6K3_ENST00000451316.1_Nonsense_Mutation_p.S276*	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	276					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CCCCTCCACTGAGAGTTTTCT	0.453																																						ENST00000451316.1																			0				skin(1)	1						c.(826-828)tCa>tAa		inositol hexakisphosphate kinase 3							41	46	44					6																	33690903		2203	4300	6503	SO:0001587	stop_gained	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690903G>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.827C>A	6.37:g.33690903G>T	ENSP00000293756:p.Ser276*					IP6K3_ENST00000293756.4_Nonsense_Mutation_p.S276*	p.S276*	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1362	-			276					Q96MQ9	Nonsense_Mutation	SNP	ENST00000293756.4	37	c.827C>A	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	40	8.349889	0.98772	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	.	.	.	5.74	4.87	0.63330	.	0.121990	0.37715	N	0.001964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2462	11.4635	0.50223	0.0:0.136:0.7227:0.1413	.	.	.	.	X	276	.	ENSP00000293756:S276X	S	-	2	0	IP6K3	33798881	1.000000	0.71417	0.613000	0.29037	0.989000	0.77384	6.643000	0.74334	1.398000	0.46701	0.655000	0.94253	TCA		0.453	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		22	216	1	0	3.73808e-20	1	3.98401e-20	22	216					T	33690903	G	T	33690903	4	4	53	1	0	0	0	0	0	1	0	0	7820	1294	45	3	409	3	IP6K3	6	33690903	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1678005	33690903	137424164	42	6515											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		8	620						8	620	---	---	---	---	T	44269189	-	T	44269188	7	5	53	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	10578285	44269188	126845879	43	6516											
SLC22A16	85413	broad.mit.edu	37	chr6	110763856	110763856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaagtatcctgtcaaAgccaccagcagggttccaac	8	14	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:110763856A>G	ENST00000368919.3	-	4	840	c.774T>C	c.(772-774)gcT>gcC	p.A258A	SLC22A16_ENST00000330550.4_Silent_p.A224A|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.A258A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	258					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATCCTGTCAAAGCCACCAGCA	0.507																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(772-774)gcT>gcC		solute carrier family 22 (organic cation/carnitine transporter), member 16							95	93	94					6																	110763856		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763856A>G		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.774T>C	6.37:g.110763856A>G						SLC22A16_ENST00000330550.4_Silent_p.A224A|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000456137.2_3'UTR	p.A258A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	840	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	258					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.774T>C	CCDS5084.1																																																																																				0.507	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		62	200	0	0	0	1	0	62	200					G	110763856	A	G	110763856	2	3	53	1	0	0	0	0	0	0	0	1	14497	59	3	4		4	SLC22A16	6	110763856	Silent	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	66494668	110763856	60351211	44	6517											
RELN	5649	broad.mit.edu	37	chr7	103180720	103180720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgagtagaaccagaaCgggctttcaagggtatctcc	13	9	2	2	rs116394157		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:103180720C>T	ENST00000428762.1	-	44	7013	c.6854G>A	c.(6853-6855)cGt>cAt	p.R2285H	RELN_ENST00000343529.5_Missense_Mutation_p.R2285H|RELN_ENST00000424685.2_Missense_Mutation_p.R2285H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2285					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAACCAGAACGGGCTTTCAA	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6853-6855)cGt>cAt		reelin							96	89	91					7																	103180720		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180720C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6854G>A	7.37:g.103180720C>T	ENSP00000392423:p.Arg2285His					RELN_ENST00000428762.1_Missense_Mutation_p.R2285H|RELN_ENST00000343529.5_Missense_Mutation_p.R2285H	p.R2285H			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	7013	-			2285					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6854G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793262	0.90453	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	2.01;2.01;1.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.68593	2.085	0.80722	D	1	D;P	0.89917	1.0;0.857	D;B	0.83275	0.996;0.173	T	0.50355	-0.8838	10	0.59425	D	0.04	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	2285;2285	P78509-2;P78509	.;RELN_HUMAN	H	2285	ENSP00000392423:R2285H;ENSP00000345694:R2285H;ENSP00000388446:R2285H	ENSP00000345694:R2285H	R	-	2	0	RELN	102967956	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	4.462000	0.60121	2.717000	0.92951	0.655000	0.94253	CGT		0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		91	345	0	0	0	1	0	91	345					T	103180720	C	T	103180720	3	4	53	1	0	0	0	0	1	0	0	0	13270	536	19	1	3616	1	RELN	7	103180720	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		103180720	55957943	45	6518											
RBM28	55131	broad.mit.edu	37	chr7	127975996	127975996	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcttcatcatcatcAtcgtcatcatcatcgttttc	2	14	9	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:127975996A>G	ENST00000223073.2	-	7	828	c.714T>C	c.(712-714)gaT>gaC	p.D238D	RBM28_ENST00000415472.2_Silent_p.D97D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	238	Asp/Glu-rich (acidic).				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						catcatcatcatcgtcatcat	0.398																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(712-714)gaT>gaC		RNA binding motif protein 28							330	243	273					7																	127975996		2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127975996A>G	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.714T>C	7.37:g.127975996A>G						RBM28_ENST00000415472.2_Silent_p.D97D	p.D238D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			7	828	-			238			Asp/Glu-rich (acidic).		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.714T>C	CCDS5801.1																																																																																				0.398	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		69	240	0	0	0	1	0	69	240					G	127975996	A	G	127975996	2	3	53	1	0	0	0	0	0	0	0	1	13178	214	8	4		4	RBM28	7	127975996	Silent	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	24795276	127975996	31162667	46	6519											
NRF1	4899	broad.mit.edu	37	chr7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtccggagtgatgtccGcacagaagagcaaaagcaga	12	8	0	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493																																						ENST00000393232.1																			1	Substitution - Missense(1)	p.R248L(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(742-744)cGc>cAc		nuclear respiratory factor 1							122	124	124					7																	129349051		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129349051G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.743G>A	7.37:g.129349051G>A	ENSP00000376924:p.Arg248His					NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H	p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			6	860	+			248					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.743G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC		0.493	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		9	741	0	0	0	1	0	9	741					A	129349051	G	A	129349051	3	1	53	1	0	0	0	0	1	0	0	0	10688	1087	38	1	761	1	NRF1	7	129349051	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1373055	129349051	29789612	47	6520											
ABP1	26	broad.mit.edu	37	chr7	150556084	150556084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagatccactccatggccGaccaggtgctgcccccaggc	11	17	0	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:150556084G>A	ENST00000493429.1	+	5	2388	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	AOC1_ENST00000467291.1_Missense_Mutation_p.D602N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.D602N|AOC1_ENST00000416793.2_Missense_Mutation_p.D602N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	602					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTCCATGGCCGACCAGGTGCT	0.647																																						ENST00000493429.1																			0											c.(1804-1806)Gac>Aac		amine oxidase, copper containing 1							11	13	12					7																	150556084		1908	4114	6022	SO:0001583	missense	26							g.chr7:150556084G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1804G>A	7.37:g.150556084G>A	ENSP00000418614:p.Asp602Asn					AOC1_ENST00000416793.2_Missense_Mutation_p.D602N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.D602N|AOC1_ENST00000360937.4_Missense_Mutation_p.D602N	p.D602N							5	2388	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1804G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	7.392	0.630965	0.14322	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	5.57	2.5	0.30297	Copper amine oxidase, C-terminal (3);	0.512515	0.23477	N	0.047741	T	0.02455	0.0075	N	0.20610	0.595	0.21445	N	0.999682	B;B	0.24368	0.102;0.006	B;B	0.17722	0.019;0.004	T	0.46610	-0.9179	10	0.02654	T	1	-58.4235	6.6473	0.22943	0.1775:0.1462:0.6763:0.0	.	602;602	C9J690;P19801	.;ABP1_HUMAN	N	602;602;602;128;602;478	ENSP00000418614:D602N;ENSP00000418328:D602N;ENSP00000354193:D602N;ENSP00000411613:D602N	ENSP00000354193:D602N	D	+	1	0	ABP1	150187017	0.970000	0.33590	0.973000	0.42090	0.993000	0.82548	1.568000	0.36418	0.582000	0.29556	0.561000	0.74099	GAC		0.647	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		12	72	0	0	0	1	0	12	72					A	150556084	G	A	150556084	3	1	53	1	0	0	0	0	1	0	0	0	98	1058	37	1	1810	1	ABP1	7	150556084	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	21207033	150556084	8582579	48	6521											
RP1L1	94137	broad.mit.edu	37	chr8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggcctctaTaccttctgactctggctggg	11	13	5	1	rs200407750		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				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						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158	172	168					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	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.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	1179	0	0	0	1	0	7	1179					C	10465022	T	C	10465022	3	2	53	1	0	0	0	0	1	0	0	0	13583	1406	49	4	620	4	RP1L1	8	10465022	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08		10465022	135899000	49	6522											
EBF2	64641	broad.mit.edu	37	chr8	25890660	25890660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagcttttcttttcGcagcatcgactgtagattgg	8	10	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:25890660G>A	ENST00000520164.1	-	6	1029	c.492C>T	c.(490-492)tgC>tgT	p.C164C	EBF2_ENST00000408929.3_Silent_p.C16C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	164					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTTCTTTTCGCAGCATCGAC	0.393																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(490-492)tgC>tgT		early B-cell factor 2							129	127	128					8																	25890660		1941	4181	6122	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25890660G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.492C>T	8.37:g.25890660G>A						EBF2_ENST00000408929.3_Silent_p.C16C	p.C164C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	6	1029	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	164					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.492C>T	CCDS43726.1																																																																																				0.393	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		77	315	0	0	0	1	0	77	315					A	25890660	G	A	25890660	2	1	53	1	0	0	0	0	0	0	0	1	4897	1079	38	1		1	EBF2	8	25890660	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	15425638	25890660	120473362	50	6523											
INTS9	55756	broad.mit.edu	37	chr8	28669965	28669965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggagtcacctggaccGcaccaaaaagctcctaaaag	9	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:28669965G>A	ENST00000521022.1	-	8	704	c.623C>T	c.(622-624)gCg>gTg	p.A208V	INTS9_ENST00000521777.1_Missense_Mutation_p.A184V|INTS9_ENST00000397363.4_Missense_Mutation_p.A102V|INTS9_ENST00000416984.2_Missense_Mutation_p.A187V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	208					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACCTGGACCGCACCAAAAAG	0.463																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(559-561)gCg>gTg		integrator complex subunit 9							62	57	59					8																	28669965		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28669965G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.623C>T	8.37:g.28669965G>A	ENSP00000429065:p.Ala208Val					INTS9_ENST00000521777.1_Missense_Mutation_p.A184V|INTS9_ENST00000521022.1_Missense_Mutation_p.A208V|INTS9_ENST00000397363.4_Missense_Mutation_p.A102V	p.A187V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	7	919	-		Ovarian(32;0.0439)	208					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.560C>T	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978086	0.74360	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.46063	0.9;0.88;0.9;0.91	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.52266	1.64	0.80722	D	1	B;B;B	0.22541	0.071;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.006	T	0.11767	-1.0574	10	0.35671	T	0.21	-19.2771	20.2738	0.98482	0.0:0.0:1.0:0.0	.	187;208;208	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	V	208;187;52;184;102	ENSP00000429065:A208V;ENSP00000398208:A187V;ENSP00000430943:A184V;ENSP00000380520:A102V	ENSP00000380520:A102V	A	-	2	0	INTS9	28725884	1.000000	0.71417	0.973000	0.42090	0.795000	0.44927	7.883000	0.87264	2.894000	0.99253	0.655000	0.94253	GCG		0.463	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		5	219	0	0	0	1	0	5	219					A	28669965	G	A	28669965	3	1	53	1	0	0	0	0	1	0	0	0	7815	1087	38	1	1393	1	INTS9	8	28669965	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2779305	28669965	117694057	51	6524											
WRN	7486	broad.mit.edu	37	chr8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcccccagctattctgGcaacaaacaagatactggtg	8	11	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGCTATTCTGGCAACAAACAA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3535-3537)Gca>Aca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							97	98	98					8																	31004955		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31004955G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3535G>A	8.37:g.31004955G>A	ENSP00000298139:p.Ala1179Thr						p.A1179T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	30	3784	+		Breast(100;0.195)	1179			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3535G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767242	0.90020	.	.	ENSG00000165392	ENST00000298139	T	0.51574	0.7	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.77820	2.39	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74697	-0.3578	10	0.66056	D	0.02	-18.4415	18.1847	0.89789	0.0:0.0:1.0:0.0	.	589;1179	Q59F09;Q14191	.;WRN_HUMAN	T	1179	ENSP00000298139:A1179T	ENSP00000298139:A1179T	A	+	1	0	WRN	31124497	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.519000	0.81809	2.459000	0.83118	0.655000	0.94253	GCA		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	355	0	0	0	1	0	5	355					A	31004955	G	A	31004955	3	1	53	1	0	0	0	0	1	0	0	0	17456	1203	42	2	3649	2	WRN	8	31004955	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2334990	31004955	115359067	52	6525											
KCNB2	9312	broad.mit.edu	37	chr8	73848256	73848256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagctgcaggaaacggaCgaatttggacaactcaatga	12	9	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:73848256C>T	ENST00000523207.1	+	3	1254	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	222					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGAAACGGACGAATTTGGAC	0.473																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(664-666)gaC>gaT		potassium voltage-gated channel, Shab-related subfamily, member 2							195	174	181					8																	73848256		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848256C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.666C>T	8.37:g.73848256C>T							p.D222D	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1254	+	Breast(64;0.137)		222					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.666C>T	CCDS6209.1																																																																																				0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		95	350	0	0	0	1	0	95	350					T	73848256	C	T	73848256	2	4	53	1	0	0	0	0	0	0	0	1	8043	535	19	1		1	KCNB2	8	73848256	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	42843301	73848256	72515766	53	6526											
TOR2A	27433	broad.mit.edu	37	chr9	130496760	130496760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgggggctgggtcccGcacaaaggccttcagcgcct	15	13	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:130496760G>A	ENST00000373284.5	-	2	281	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373281.5_Missense_Mutation_p.R79W|TOR2A_ENST00000472723.1_5'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	79					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						GCTGGGTCCCGCACAAAGGCC	0.662											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373281.5																			0				NS(1)|endometrium(2)	3						c.(235-237)Cgg>Tgg		torsin family 2, member A							23	25	25					9																	130496760		2202	4297	6499	SO:0001583	missense	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130496760G>A	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.235C>T	9.37:g.130496760G>A	ENSP00000362381:p.Arg79Trp		OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1580	TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373284.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W	p.R79W	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN			2	258	-			79					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	c.235C>T	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172678	0.38413	.	.	ENSG00000160404	ENST00000336067;ENST00000373284;ENST00000373281	T;T;T	0.44482	0.92;0.92;0.92	5.23	-2.19	0.07015	.	0.571731	0.18845	N	0.129561	T	0.33614	0.0869	L	0.29908	0.895	0.09310	N	0.999998	B;D;D	0.71674	0.001;0.998;0.983	B;P;P	0.54174	0.0;0.744;0.545	T	0.20739	-1.0266	10	0.62326	D	0.03	-4.2007	3.9649	0.09426	0.0755:0.3385:0.3078:0.2782	.	79;79;79	Q5JU69-2;Q8N2E6;Q5JU69	.;TOR2X_HUMAN;TOR2A_HUMAN	W	79	ENSP00000338317:R79W;ENSP00000362381:R79W;ENSP00000362378:R79W	ENSP00000338317:R79W	R	-	1	2	TOR2A	129536581	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.227000	0.09126	-0.084000	0.12595	-0.448000	0.05591	CGG		0.662	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		4	105	0	0	0	1	0	4	105					A	130496760	G	A	130496760	3	1	53	1	0	0	0	0	1	0	0	0	16428	1086	38	1	915	1	TOR2A	9	130496760	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		130496760	10716671	54	6527											
ODF2	4957	broad.mit.edu	37	chr9	131256879	131256879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgaagctggctgagtgccaaGaccaactgcagggctatgag	14	10	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:131256879G>T	ENST00000434106.3	+	17	2206	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D591Y|ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D615Y	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	615					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGTGCCAAGACCAACTGCA	0.582																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1771-1773)Gac>Tac		outer dense fiber of sperm tails 2							77	67	70					9																	131256879		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131256879G>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1843G>T	9.37:g.131256879G>T	ENSP00000403453:p.Asp615Tyr					ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000372796.4_Missense_Mutation_p.D615Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000434106.2_Missense_Mutation_p.D615Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y	p.D591Y	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			19	2356	+			615					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1771G>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315892	0.60524	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.84070	1.27;-1.8;-0.05;-0.05;-0.05;-1.8;1.29;1.3	5.4	3.55	0.40652	.	0.293958	0.38326	N	0.001723	D	0.84361	0.5455	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.997;0.998;0.998;0.998;0.998;0.998	P;D;P;D;P;D;D	0.68192	0.904;0.916;0.904;0.956;0.904;0.953;0.916	D	0.83375	0.0009	10	0.72032	D	0.01	-20.1786	8.5962	0.33716	0.0774:0.2919:0.6307:0.0	.	596;610;534;615;596;615;591	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	Y	615;659;610;615;591;534;596;596	ENSP00000377166:D615Y;ENSP00000361901:D659Y;ENSP00000342581:D610Y;ENSP00000361882:D615Y;ENSP00000307781:D591Y;ENSP00000396687:D534Y;ENSP00000437579:D596Y;ENSP00000361877:D596Y	ENSP00000307781:D591Y	D	+	1	0	ODF2	130296700	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.221000	0.51215	0.643000	0.30638	-0.305000	0.09177	GAC		0.582	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			57	175	1	0	1.19403e-26	1	1.29821e-26	57	175					T	131256879	G	T	131256879	3	4	53	1	0	0	0	0	1	0	0	0	10869	942	33	3	1960	3	ODF2	9	131256879	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	760119	131256879	9956552	55	6528											
PPYR1	5540	broad.mit.edu	37	chr10	47087166	47087166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcatgtcggtgacggtctCcatcctctcgctcgtcctcg	11	15	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr10:47087166C>T	ENST00000395716.1	+	2	468	c.383C>T	c.(382-384)tCc>tTc	p.S128F	NPY4R_ENST00000374312.1_Missense_Mutation_p.S128F			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	128					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GTGACGGTCTCCATCCTCTCG	0.587																																						ENST00000374312.1																			0											c.(382-384)tCc>tTc		neuropeptide Y receptor Y4							300	269	279					10																	47087166		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087166C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.383C>T	10.37:g.47087166C>T	ENSP00000379066:p.Ser128Phe					NPY4R_ENST00000395716.1_Missense_Mutation_p.S128F	p.S128F	NM_005972.4	NP_005963.3					3	802	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.383C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189333	0.57909	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.56103	0.48;0.48	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88682	0.3203	10	0.87932	D	0	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	128	P50391	NPY4R_HUMAN	F	128	ENSP00000363431:S128F;ENSP00000379066:S128F	ENSP00000363431:S128F	S	+	2	0	PPYR1	46507172	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	7.443000	0.80521	2.464000	0.83262	0.609000	0.83330	TCC		0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			76	758	0	0	0	1	0	76	758					T	47087166	C	T	47087166	3	4	53	1	0	0	0	0	1	0	0	0	12463	855	30	2	385	2	PPYR1	10	47087166	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		47087166	88447581	56	6529											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	10	13	1	1	rs76949963	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94	97	96					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		6	593	0	0	0	1	0	6	593					C	126682486	T	C	126682486	2	2	53	1	0	0	0	0	0	0	0	1	4009	1606	56	4		4	CTBP2	10	126682486	Silent	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	79595320	126682486	8852261	57	6530			1	9		2	2	31	N	T_G	9.981179e-05
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		6	561	0	0	0	1	0	6	561					A	126682516	G	A	126682516	2	1	53	1	0	0	0	0	0	0	0	1	4009	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	30	126682516	8852231	58	6531			1	9		2	2	31	N	T_G	9.981179e-05
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	594	0	0	0	1	0	5	594					G	281566	A	G	281566	3	3	53	1	0	0	0	0	1	0	0	0	10523	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08		281566	134724950	59	6532											
CD81	975	broad.mit.edu	37	chr11	2411735	2411735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgggagacaagcccGcgcccaacaccttctatgta	11	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:2411735G>A	ENST00000263645.5	+	2	416	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	54					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGACAAGCCCGCGCCCAACAC	0.617																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(160-162)Gcg>Acg		CD81 molecule							86	78	81					11																	2411735		2202	4298	6500	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2411735G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.160G>A	11.37:g.2411735G>A	ENSP00000263645:p.Ala54Thr					CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000526072.1_5'UTR	p.A54T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	416	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	54					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.160G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341437	0.60963	.	.	ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.54	2.4	0.29515	.	0.596358	0.15996	N	0.234543	D	0.83248	0.5213	M	0.64997	1.995	0.39692	D	0.97106	D;D	0.71674	0.996;0.998	P;P	0.61275	0.774;0.886	D	0.84064	0.0376	10	0.62326	D	0.03	.	11.7463	0.51821	0.0:0.0:0.6812:0.3188	.	92;54	A6NMH8;P60033	.;CD81_HUMAN	T	54;49;43;46;92;47	ENSP00000263645:A54T;ENSP00000435633:A49T;ENSP00000433767:A43T;ENSP00000432497:A46T;ENSP00000370424:A92T;ENSP00000432249:A47T	ENSP00000263645:A54T	A	+	1	0	CD81	2368311	1.000000	0.71417	0.020000	0.16555	0.589000	0.36550	4.156000	0.58138	0.988000	0.38734	0.462000	0.41574	GCG		0.617	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		71	286	0	0	0	1	0	71	286					A	2411735	G	A	2411735	3	1	53	1	0	0	0	0	1	0	0	0	3048	1087	38	1	166	1	CD81	11	2411735	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2130169	2411735	132594781	60	6533											
TMEM41B	440026	broad.mit.edu	37	chr11	9304991	9304992	+	Frame_Shift_Ins	INS	-	-	T													tactcaaatttctgctttagINSttttttttggaagatggctg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:9304991_9304992insT	ENST00000528080.1	-	7	1193_1194	c.855_856insA	c.(853-858)aaactafs	p.L286fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	286					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCTGCTTTAGTTTTTTTTGGA	0.342																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(853-858)aataaafs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9304991_9304992insT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.856dupA	11.37:g.9304999_9304999dupT	ENSP00000433126:p.Leu286fs						p.NK285fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1193_1194	-			285					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.855_856insA	CCDS31424.1																																																																																				0.342	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			7	188						7	188	---	---	---	---	T	9304992	-	T	9304991	7	5	53	1	0	1	1	0	0	0	0	0	16217	1020	36	0	23	0	TMEM41B	11	9304991	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	6893256	9304991	125701525	61	6534											
C11orf9	745	broad.mit.edu	37	chr11	61549225	61549226	+	Frame_Shift_Ins	INS	-	-	C													cccagccttggtttccatggINSccgggcccgccgaggggccc							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:61549225_61549226insC	ENST00000278836.5	+	22	3041_3042	c.2945_2946insC	c.(2944-2949)ggccggfs	p.R983fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.R948fs|MYRF_ENST00000389602.4_Frame_Shift_Ins_p.R374fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	983					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTTTCCATGGCCGGGCCCGCC	0.673																																						ENST00000278836.5																			0											c.(2944-2946)gcgfs		myelin regulatory factor																																				SO:0001589	frameshift_variant	745							g.chr11:61549225_61549226insC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2947dupC	11.37:g.61549227_61549227dupC	ENSP00000278836:p.Arg983fs					MYRF_ENST00000265460.5_Frame_Shift_Ins_p.A947fs|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Frame_Shift_Ins_p.A373fs	p.A982fs	NM_001127392.1	NP_001120864.1					22	3041_3042	+								O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	c.2945_2946insC	CCDS44622.1																																																																																				0.673	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		66	271						66	271	---	---	---	---	C	61549226	-	C	61549225	7	5	53	1	0	1	1	0	0	0	0	0	1676	1203	42	0	3057	0	C11orf9	11	61549225	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	52244234	61549225	73457291	62	6535											
KDM2A	22992	broad.mit.edu	37	chr11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-													tggggggagaggaggaggaaGaggaggaggaggaggaggaa							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		8	107						8	107	---	---	---	---	-	67018081	GAG	-	67018079	7	5	53	1	0	1	0	1	0	0	0	0	8154	943	33	0	2640	0	KDM2A	11	67018079	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ1-01A-12D-A40W-08	5468854	67018079	67988437	63	6536											
TPCN2	219931	broad.mit.edu	37	chr11	68853221	68853221	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacttcgatgactttgcgGtgagccctgcgccctgtccc	10	15	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:68853221G>A	ENST00000294309.3	+	21	2021		c.e21+1		TPCN2_ENST00000442692.2_Splice_Site|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGACTTTGCGGTGAGCCCTGC	0.687																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e21+1		two pore segment channel 2							87	90	89					11																	68853221		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68853221G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1920+1G>A	11.37:g.68853221G>A						TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Intron		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		21	2021	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563865	0.45694	.	.	ENSG00000162341	ENST00000294309	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68609797	1.000000	0.71417	0.830000	0.32933	0.498000	0.33706	6.125000	0.71627	1.998000	0.58463	0.561000	0.74099	.		0.687	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	6	352	0	0	0	1	0	6	352					A	68853221	G	A	68853221	5	1	53	1	0	0	0	0	0	0	1	0	16449	1275	44	2	2003	2	TPCN2	11	68853221	Splice_Site	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1835142	68853221	66153295	64	6537											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	10	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(241-243)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							155	150	152					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp					MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		6	758	0	0	0	1	0	6	758					T	102826101	C	T	102826101	3	4	53	1	0	0	0	0	1	0	0	0	9693	739	26	2	1209	2	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	33972880	102826101	32180415	65	6538											
PRDM10	56980	broad.mit.edu	37	chr11	129800938	129800938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggctctgcgcatgtcGtcggctgtcagcgtgctctg	14	13	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:129800938G>A	ENST00000360871.3	-	11	1734	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	PRDM10_ENST00000358825.5_Silent_p.D501D|PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000526082.1_Silent_p.D415D|PRDM10_ENST00000423662.2_Silent_p.D415D|PRDM10_ENST00000528746.1_Silent_p.D475D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCGCATGTCGTCGGCTGTCA	0.622																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1501-1503)gaC>gaT		PR domain containing 10							129	119	122					11																	129800938		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800938G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1503C>T	11.37:g.129800938G>A						PRDM10_ENST00000526082.1_Silent_p.D415D|PRDM10_ENST00000360871.3_Silent_p.D501D|PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000423662.2_Silent_p.D415D	p.D501D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1734	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	501					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1503C>T	CCDS8484.1																																																																																				0.622	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		59	259	0	0	0	1	0	59	259					A	129800938	G	A	129800938	2	1	53	1	0	0	0	0	0	0	0	1	12498	1136	40	1		1	PRDM10	11	129800938	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	26974837	129800938	5205578	66	6539											
GRIN2B	2904	broad.mit.edu	37	chr12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttcattacagactggCgctcctcgatcgccacccca	10	15	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:13717533C>T	ENST00000609686.1	-	13	2848	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R880P(1)|p.R880H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACAGACTGGCGCTCCTCGAT	0.537																																						ENST00000279593.3																			2	Substitution - Missense(2)	p.R880P(1)|p.R880H(1)	lung(2)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2638-2640)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						110	99	103					12																	13717533		2203	4298	6501	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717533C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2639G>A	12.37:g.13717533C>T	ENSP00000477455:p.Arg880His						p.R880H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2848	-			880					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2639G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672612	0.47781	.	.	ENSG00000150086	ENST00000279593	T	0.12465	2.68	5.3	4.41	0.53225	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.277359	0.39687	N	0.001290	T	0.22244	0.0536	L	0.29908	0.895	0.52501	D	0.999953	D	0.58970	0.984	P	0.60236	0.871	T	0.01259	-1.1403	10	0.59425	D	0.04	.	13.8298	0.63373	0.0:0.9257:0.0:0.0743	.	880	Q13224	NMDE2_HUMAN	H	880	ENSP00000279593:R880H	ENSP00000279593:R880H	R	-	2	0	GRIN2B	13608800	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.986000	0.56937	1.238000	0.43771	0.563000	0.77884	CGC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			103	520	0	0	0	1	0	103	520					T	13717533	C	T	13717533	3	4	53	1	0	0	0	0	1	0	0	0	6810	768	27	1	1819	1	GRIN2B	12	13717533	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		13717533	120134362	67	6540											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		40	157	0	0	0	1	0	40	157					T	25398284	C	T	25398284	3	4	53	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	11680751	25398284	108453611	68	6541											
TMTC1	83857	broad.mit.edu	37	chr12	29659861	29659861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttccttcagcagtttgCtgtctggaaccagctgtaag	10	9	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:29659861C>T	ENST00000539277.1	-	18	2625	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N|TMTC1_ENST00000256062.5_Missense_Mutation_p.S748N	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	856						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAGCAGTTTGCTGTCTGGAAC	0.443																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2242-2244)aGc>aAc		transmembrane and tetratricopeptide repeat containing 1							212	211	211					12																	29659861		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659861C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2567G>A	12.37:g.29659861C>T	ENSP00000442046:p.Ser856Asn					TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.S856N|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N	p.S748N	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2716	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		856					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2243G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334993	0.81801	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.64618	0.83;0.83;0.83;-0.11	5.28	4.38	0.52667	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.093694	0.85682	D	0.000000	T	0.63861	0.2547	L	0.35288	1.05	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.91;0.997;0.998	T	0.58457	-0.7633	10	0.02654	T	1	-24.6549	13.0775	0.59095	0.0:0.9199:0.0:0.0801	.	856;918;201	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	N	619;748;918;880;856	ENSP00000256062:S748N;ENSP00000448112:S918N;ENSP00000449043:S880N;ENSP00000442046:S856N	ENSP00000256062:S748N	S	-	2	0	TMTC1	29551128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.779000	0.55379	2.463000	0.83235	0.650000	0.86243	AGC		0.443	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		6	612	0	0	0	1	0	6	612					T	29659861	C	T	29659861	3	4	53	1	0	0	0	0	1	0	0	0	16312	797	28	2	85	2	TMTC1	12	29659861	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	4261577	29659861	104192034	69	6542											
FAM19A2	338811	broad.mit.edu	37	chr12	62148670	62148670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatccacacatgatggaGcagctcgcgtggtgcctgcc	11	15	0	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:62148670G>T	ENST00000416284.3	-	3	1826	c.242C>A	c.(241-243)gCt>gAt	p.A81D	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	81						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACATGATGGAGCAGCTCGCGT	0.498																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(241-243)gCt>gAt		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							166	114	132					12																	62148670		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62148670G>T	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.242C>A	12.37:g.62148670G>T	ENSP00000393987:p.Ala81Asp					FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000551449.1_Intron	p.A81D	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1826	-			81					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.242C>A	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519733	0.44866	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.36672	1.1	0.80722	D	1	B	0.32010	0.351	B	0.36534	0.227	T	0.53099	-0.8486	8	.	.	.	.	18.8508	0.92227	0.0:0.0:1.0:0.0	.	81	Q8N3H0	F19A2_HUMAN	D	81;81;82;88;82	.	.	A	-	2	0	FAM19A2	60434937	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.381000	0.66208	2.455000	0.83008	0.558000	0.71614	GCT		0.498	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		46	162	1	0	9.22156e-22	1	9.89332e-22	46	162					T	62148670	G	T	62148670	3	4	53	1	0	0	0	0	1	0	0	0	5553	971	34	3	165	3	FAM19A2	12	62148670	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	32488809	62148670	71703225	70	6543											
DNAH10	196385	broad.mit.edu	37	chr12	124397822	124397822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggcggctgattgccGcagacaaactcatctcgggt	14	10	2	3	rs373522460		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:124397822G>A	ENST00000409039.3	+	59	9983	c.9958G>A	c.(9958-9960)Gca>Aca	p.A3320T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3320					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTGATTGCCGCAGACAAACT	0.537																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9958-9960)Gca>Aca		dynein, axonemal, heavy chain 10		G	THR/ALA	0,3840		0,0,1920	32	35	34		9958	5.4	0.1	12		34	1,8241		0,1,4120	no	missense	DNAH10	NM_207437.3	58	0,1,6040	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	3320/4472	124397822	1,12081	1920	4121	6041	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124397822G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9958G>A	12.37:g.124397822G>A	ENSP00000386770:p.Ala3320Thr						p.A3320T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	59	9983	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3320					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9958G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119935	0.77323	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.80214	-1.35	5.43	5.43	0.79202	Dynein heavy chain, coiled coil stalk (1);	0.116409	0.64402	D	0.000019	D	0.94026	0.8086	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96078	0.9051	10	0.87932	D	0	.	19.2307	0.93839	0.0:0.0:1.0:0.0	.	3320	Q8IVF4	DYH10_HUMAN	T	3320	ENSP00000386770:A3320T	ENSP00000386770:A3320T	A	+	1	0	DNAH10	122963775	1.000000	0.71417	0.096000	0.21009	0.031000	0.12232	9.869000	0.99810	2.534000	0.85438	0.655000	0.94253	GCA		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			18	46	0	0	0	1	0	18	46					A	124397822	G	A	124397822	3	1	53	1	0	0	0	0	1	0	0	0	4614	1087	38	1	10192	1	DNAH10	12	124397822	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	62249152	124397822	9454073	71	6544											
ZNF219	51222	broad.mit.edu	37	chr14	21559652	21559653	+	Frame_Shift_Ins	INS	-	-	C													gacaatccttgccggtggcgINSccccggcccccttcaggccg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:21559652_21559653insC	ENST00000360947.3	-	4	1892_1893	c.1481_1482insG	c.(1480-1482)ggcfs	p.G494fs	ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Frame_Shift_Ins_p.G494fs|ZNF219_ENST00000421093.2_Frame_Shift_Ins_p.G494fs	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	494					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCCGGTGGCGCCCCGGCCCCC	0.599																																						ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(1480-1482)ggcfs		zinc finger protein 219																																				SO:0001589	frameshift_variant	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21559652_21559653insC	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1482dupG	14.37:g.21559656_21559656dupC	ENSP00000354206:p.Gly494fs					RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Frame_Shift_Ins_p.G494fs|ZNF219_ENST00000451119.2_Frame_Shift_Ins_p.G494fs	p.G494fs	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	4	1892_1893	-	all_cancers(95;0.00185)		494					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Frame_Shift_Ins	INS	ENST00000360947.3	37	c.1481_1482insG	CCDS9568.1																																																																																				0.599	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			9	462						9	462	---	---	---	---	C	21559653	-	C	21559652	7	5	53	1	0	1	1	0	0	0	0	0	17826	1074	38	0	694	0	ZNF219	14	21559652	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08		21559652	85789888	72	6545											
SLC7A7	9056	broad.mit.edu	37	chr14	23244654	23244654	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccttgagttcacttacaTtgaagagcagagaaggcact	9	9	1	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:23244654T>A	ENST00000397532.3	-	7	1619	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	SLC7A7_ENST00000397528.4_Splice_Site_p.N365I|SLC7A7_ENST00000555702.1_Splice_Site_p.N365I|SLC7A7_ENST00000285850.7_Splice_Site_p.N365I|SLC7A7_ENST00000554517.1_Splice_Site_p.N99I|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Splice_Site_p.N365I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	365			N -> Y (in LPI). {ECO:0000269|PubMed:17764084}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTCACTTACATTGAAGAGCAG	0.473																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.e7+1		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							112	108	110					14																	23244654		2203	4300	6503	SO:0001630	splice_region_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23244654T>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1095+1A>T	14.37:g.23244654T>A						SLC7A7_ENST00000555702.1_Splice_Site_p.N365_splice|SLC7A7_ENST00000285850.7_Splice_Site_p.N365_splice|SLC7A7_ENST00000554517.1_Splice_Site_p.N99_splice|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Splice_Site_p.N365_splice|SLC7A7_ENST00000397528.4_Splice_Site_p.N365_splice	p.N365_splice			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	7	1619	-	all_cancers(95;8.44e-05)		365		N -> Y (in LPI).			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Splice_Site	SNP	ENST00000397532.3	37	c.1095_splice	CCDS9574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.059783|4.059783	0.76074|0.76074	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000556350|ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	.|D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Amino acid permease domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93861|0.93861	0.8036|0.8036	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	D|D	0.92497|0.92497	0.6005|0.6005	5|10	.|0.22706	.|T	.|0.39	.|.	14.9941|14.9941	0.71415|0.71415	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|365	.|Q9UM01	.|YLAT1_HUMAN	F|I	80|365;365;365;338;365;365;99	.|ENSP00000285850:N365I;ENSP00000451881:N365I;ENSP00000380666:N365I;ENSP00000380663:N365I;ENSP00000380662:N365I;ENSP00000452083:N99I	.|ENSP00000285850:N365I	I|N	-|-	1|2	0|0	SLC7A7|SLC7A7	22314494|22314494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.474000|0.474000	0.32979|0.32979	7.658000|7.658000	0.83755|0.83755	2.187000|2.187000	0.69744|0.69744	0.460000|0.460000	0.39030|0.39030	ATC|AAT		0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		Missense_Mutation	47	331	0	0	0	1	0	47	331					A	23244654	T	A	23244654	5	1	53	1	0	0	0	0	0	0	1	0	14753	1507	52	5	457	5	SLC7A7	14	23244654	Splice_Site	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	1685002	23244654	84104886	73	6546											
FBXO33	254170	broad.mit.edu	37	chr14	39868915	39868915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcaatgctttcttcGgtgacttcaagcactttcag	6	10	5	1	rs200556309		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:39868915G>A	ENST00000298097.7	-	4	1810	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	491					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGCTTTCTTCGGTGACTTCAA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19501	0.001		0.0	False		,,,				2504	0.0					ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(1471-1473)acC>acT		F-box protein 33							94	76	82					14																	39868915		2203	4300	6503	SO:0001819	synonymous_variant	254170							g.chr14:39868915G>A	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1473C>T	14.37:g.39868915G>A						FBXO33_ENST00000554190.1_3'UTR	p.T491T	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	4	1810	-	Hepatocellular(127;0.213)		491					Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	c.1473C>T	CCDS9677.1																																																																																				0.478	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			16	108	0	0	0	1	0	16	108					A	39868915	G	A	39868915	2	1	53	1	0	0	0	0	0	0	0	1	5768	1103	39	1		1	FBXO33	14	39868915	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	16624261	39868915	67480625	74	6547											
MGAT2	4247	broad.mit.edu	37	chr14	50088320	50088321	+	Frame_Shift_Ins	INS	-	-	C													gaatgtagataaggctggcaINScctgggccccccgggagctg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:50088320_50088321insC	ENST00000305386.2	+	1	832_833	c.334_335insC	c.(334-336)accfs	p.T112fs	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	112					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGGCTGGCACCTGGGCCCCC	0.614																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(334-336)ctgfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase																																				SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088320_50088321insC	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.336dupC	14.37:g.50088322_50088322dupC	ENSP00000307423:p.Thr112fs					RP11-649E7.5_ENST00000555043.1_RNA	p.L112fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	832_833	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		112					B3KPC5|B3KQM0	Frame_Shift_Ins	INS	ENST00000305386.2	37	c.334_335insC	CCDS9690.1																																																																																				0.614	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	725						7	725	---	---	---	---	C	50088321	-	C	50088320	7	5	53	1	0	1	1	0	0	0	0	0	9584	159	6	0	336	0	MGAT2	14	50088320	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	10219405	50088320	57261220	75	6548											
EIF2B2	8892	broad.mit.edu	37	chr14	75473358	75473358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactctggcactggcaGcaaaacaccattccacccca	5	18	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:75473358G>A	ENST00000266126.5	+	6	852	c.772G>A	c.(772-774)Gca>Aca	p.A258T	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	258					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GGCACTGGCAGCAAAACACCA	0.498																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(772-774)Gca>Aca		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							340	283	303					14																	75473358		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75473358G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.772G>A	14.37:g.75473358G>A	ENSP00000266126:p.Ala258Thr					RP11-950C14.3_ENST00000554430.1_RNA	p.A258T	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	6	852	+			258					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.772G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.938531	0.97122	.	.	ENSG00000119718	ENST00000266126;ENST00000554748	D	0.99239	-5.61	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98036	1.0379	10	0.87932	D	0	-16.1668	20.3081	0.98638	0.0:0.0:1.0:0.0	.	258	P49770	EI2BB_HUMAN	T	258;46	ENSP00000266126:A258T	ENSP00000266126:A258T	A	+	1	0	EIF2B2	74543111	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.795000	0.96236	0.655000	0.94253	GCA		0.498	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		6	904	0	0	0	1	0	6	904					A	75473358	G	A	75473358	3	1	53	1	0	0	0	0	1	0	0	0	5017	971	34	2	794	2	EIF2B2	14	75473358	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	25385038	75473358	31876182	76	6549											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	571						7	571	---	---	---	---	-	95921890	CTC	-	95921888	7	5	53	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-FB-AAQ1-01A-12D-A40W-08	20448530	95921888	11427652	77	6550											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	578						7	578	---	---	---	---	-	1824300	TGC	-	1824298	7	5	53	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-FB-AAQ1-01A-12D-A40W-08		1824298	88530455	78	6551											
DNAH3	55567	broad.mit.edu	37	chr16	20975272	20975272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcggctcgatgttggCcaggtccgagatacaaaaga	12	9	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:20975272C>T	ENST00000261383.3	-	53	9933	c.9934G>A	c.(9934-9936)Gcc>Acc	p.A3312T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3312					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)			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)		TCGATGTTGGCCAGGTCCGAG	0.507																																						ENST00000261383.3																			0				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						c.(9934-9936)Gcc>Acc		dynein, axonemal, heavy chain 3							111	104	107					16																	20975272		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.chr16:20975272C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9934G>A	16.37:g.20975272C>T	ENSP00000261383:p.Ala3312Thr					DNAH3_ENST00000415178.1_3'UTR	p.A3312T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9933	-			3312					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9934G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411746	0.62399	.	.	ENSG00000158486	ENST00000261383	T	0.54479	0.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.72181	-0.4368	10	0.54805	T	0.06	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	3312	Q8TD57	DYH3_HUMAN	T	3312	ENSP00000261383:A3312T	ENSP00000261383:A3312T	A	-	1	0	DNAH3	20882773	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.964000	0.56780	2.814000	0.96858	0.563000	0.77884	GCC		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		17	448	0	0	0	1	0	17	448					T	20975272	C	T	20975272	3	4	53	1	0	0	0	0	1	0	0	0	4619	739	26	2	2455	2	DNAH3	16	20975272	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	19150974	20975272	69379481	79	6552											
SRCAP	10847	broad.mit.edu	37	chr16	30750551	30750552	+	Frame_Shift_Ins	INS	-	-	C													ggatggaagccgccccctcaINScccgcctggcccgccttcgg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:30750551_30750552insC	ENST00000262518.4	+	34	9575_9576	c.9190_9191insC	c.(9190-9192)accfs	p.T3064fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.T3002fs|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.T2906fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3064					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGCCCCCTCACCCGCCTGGCC	0.604																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(9190-9192)ccgfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750551_30750552insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9193dupC	16.37:g.30750554_30750554dupC	ENSP00000262518:p.Thr3064fs					SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P3002fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P2906fs	p.P3064fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9575_9576	+			3064					B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.9190_9191insC	CCDS10689.2																																																																																				0.604	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		8	261						8	261	---	---	---	---	C	30750552	-	C	30750551	7	5	53	1	0	1	1	0	0	0	0	0	15187	159	6	0	9316	0	SRCAP	16	30750551	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	9775279	30750551	59604202	80	6553											
TP53	7157	broad.mit.edu	37	chr17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G													gctgctggtgcaggggccacINSggggggagcagcctctggca					rs56275308|rs587782423		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCAG	0.604		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)	ENST00000420246.2		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"		37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(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	GRCh37	CI920954	TP53	I		c.(214-219)cctggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579470_7579471insG	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.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	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_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs	p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348_349	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.216_217insC	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		169	587						169	587	---	---	---	---	G	7579471	-	G	7579470	7	5	53	1	0	1	1	0	0	0	0	0	16434	536	19	0	1085	0	TP53	17	7579470	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08		7579470	73615740	81	6554											
CCDC103	388389	broad.mit.edu	37	chr17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-													ctaagcctgctgagccgggcAgagagagagagctgcaaggg							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000331733.4_5'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644																																						ENST00000417826.2																			1	Substitution - Missense(1)	p.E187K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(556-561)gcagfs		coiled-coil domain containing 103																																				SO:0001589	frameshift_variant	388389							g.chr17:42980014_42980015delAG	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.558_559delAG	17.37:g.42980024_42980025delAG	ENSP00000391692:p.Glu187fs					FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs	p.AE186fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	653_654	+		Prostate(33;0.109)	186					A8K145|B8ZZU0	Frame_Shift_Del	DEL	ENST00000417826.2	37	c.558_559delAG	CCDS11490.1																																																																																				0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		8	237						8	237	---	---	---	---	-	42980015	AG	-	42980014	7	5	53	1	0	1	0	1	0	0	0	0	2745	175	7	0	568	0	CCDC103	17	42980014	Frame_Shift_Del	DEL	AG	TCGA-FB-AAQ1-01A-12D-A40W-08	35400544	42980014	38215196	82	6555											
SMCHD1	23347	broad.mit.edu	37	chr18	2666912	2666912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttatacctgctacagtcGgtcaatcagttactactgac	6	12	2	1	rs7229488	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:2666912G>A	ENST00000320876.6	+	3	644	c.306G>A	c.(304-306)tcG>tcA	p.S102S	SMCHD1_ENST00000261598.8_Silent_p.S102S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	102					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACAGTCGGTCAATCAGT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.0					ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(304-306)tcG>tcA		structural maintenance of chromosomes flexible hinge domain containing 1		G		6,3808		0,6,1901	108	95	99		306	0.2	1	18	dbSNP_116	99	0,8266		0,0,4133	no	coding-synonymous	SMCHD1	NM_015295.2		0,6,6034	AA,AG,GG		0.0,0.1573,0.0497		102/2006	2666912	6,12074	1907	4133	6040	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2666912G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.306G>A	18.37:g.2666912G>A						SMCHD1_ENST00000261598.8_Silent_p.S102S	p.S102S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			3	644	+			102					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.306G>A	CCDS45822.1																																																																																				0.388	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			32	132	0	0	0	1	0	32	132					A	2666912	G	A	2666912	2	1	53	1	0	0	0	0	0	0	0	1	14838	1103	39	1		1	SMCHD1	18	2666912	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		2666912	75410336	83	6556											
C18orf8	29919	broad.mit.edu	37	chr18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataggacgggaaagtttgCcctgaacgtggtggacaacc	13	8	0	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(799-801)gCc>gTc		chromosome 18 open reading frame 8							148	133	138					18																	21099089		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21099089C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.800C>T	18.37:g.21099089C>T	ENSP00000269221:p.Ala267Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	p.A267V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			9	910	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		267					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.800C>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469800	0.96274	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85396	0.1128	9	0.52906	T	0.07	-16.5741	19.4282	0.94754	0.0:1.0:0.0:0.0	.	267;219	Q96DM3;F5H2W0	MIC1_HUMAN;.	V	267;110;219;110	.	ENSP00000269221:A267V	A	+	2	0	C18orf8	19353087	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.421000	0.80204	2.599000	0.87857	0.491000	0.48974	GCC		0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		6	341	0	0	0	1	0	6	341					T	21099089	C	T	21099089	3	4	53	1	0	0	0	0	1	0	0	0	1914	739	26	2	834	2	C18orf8	18	21099089	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	18432177	21099089	56978159	84	6557											
PIAS2	9063	broad.mit.edu	37	chr18	44470558	44470558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctaaactcgtgggctTgatgagaacatcaaggacat	9	9	1	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:44470558T>C	ENST00000585916.1	-	2	483	c.484A>G	c.(484-486)Aag>Gag	p.K162E	PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	162	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTCGTGGGCTTGATGAGAACA	0.398																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(484-486)Aag>Gag		protein inhibitor of activated STAT, 2							67	60	62					18																	44470558		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470558T>C	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.484A>G	18.37:g.44470558T>C	ENSP00000465676:p.Lys162Glu					PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E	p.K162E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	483	-			162			PINIT.		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.484A>G	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208609	0.58343	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.44482	0.92	6.16	6.16	0.99307	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.66297	2.02	0.80722	D	1	D;B;B;B	0.64830	0.994;0.098;0.037;0.357	P;B;B;P	0.62560	0.904;0.364;0.085;0.6	T	0.64550	-0.6381	10	0.87932	D	0	-12.525	16.8061	0.85666	0.0:0.0:0.0:1.0	.	166;162;162;162	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	E	162;162;158;162	ENSP00000317163:K162E	ENSP00000262161:K162E	K	-	1	0	PIAS2	42724556	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	AAG		0.398	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		4	164	0	0	0	1	0	4	164					C	44470558	T	C	44470558	3	2	53	1	0	0	0	0	1	0	0	0	11918	1821	63	4	1508	4	PIAS2	18	44470558	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	23371469	44470558	33606690	85	6558											
PRAM1	84106	broad.mit.edu	37	chr19	8564207	8564207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggtttccgggccggcGcaccaggctccggcagcgag	18	14	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:8564207G>A	ENST00000423345.4	-	2	1005	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	210	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGGGCCGGCGCACCAGGCTC	0.672																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(484-486)gCg>gTg		PML-RARA regulated adaptor molecule 1							12	14	14					19																	8564207		1894	4029	5923	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564207G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.485C>T	19.37:g.8564207G>A	ENSP00000408342:p.Ala162Val					PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V	p.A162V			Q96QH2	PRAM_HUMAN			2	1005	-			210			8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.485C>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.207	1.029946	0.19512	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16324	2.35;2.35	3.36	-2.6	0.06190	.	3.218910	0.00964	N	0.003140	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	P;P	0.39022	0.516;0.655	B;B	0.28709	0.026;0.093	T	0.13361	-1.0512	10	0.17832	T	0.49	.	1.8153	0.03099	0.1117:0.1719:0.3659:0.3506	.	162;210	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	V	162	ENSP00000255612:A162V;ENSP00000408342:A162V	ENSP00000255612:A162V	A	-	2	0	PRAM1	8470207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.457000	0.07033	0.591000	0.81541	GCG		0.672	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		12	94	0	0	0	1	0	12	94					A	8564207	G	A	8564207	3	1	53	1	0	0	0	0	1	0	0	0	12470	1087	38	1	1560	1	PRAM1	19	8564207	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		8564207	50564776	86	6559											
ZNF560	147741	broad.mit.edu	37	chr19	9577789	9577789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttagtaagatctgagcGttctgtgaaggcttttccac	10	7	2	3	rs145243922		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:9577789G>A	ENST00000301480.4	-	10	2047	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	612					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.R612C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGATCTGAGCGTTCTGTGAAG	0.418																																						ENST00000301480.4																			1	Substitution - Missense(1)	p.R612C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1834-1836)Cgc>Tgc		zinc finger protein 560		G	CYS/ARG	0,4406		0,0,2203	162	144	150		1834	0.9	0	19	dbSNP_134	150	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF560	NM_152476.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	612/791	9577789	3,13003	2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577789G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1834C>T	19.37:g.9577789G>A	ENSP00000301480:p.Arg612Cys						p.R612C	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2047	-			612					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1834C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241694	0.58995	0.0	3.49E-4	ENSG00000198028	ENST00000301480	T	0.16073	2.37	1.89	0.846	0.18955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.49455	1.56	0.09310	N	1	D	0.76494	0.999	P	0.53954	0.738	T	0.11348	-1.0591	9	0.38643	T	0.18	.	4.7062	0.12851	0.8013:0.0:0.1987:0.0	.	612	Q96MR9	ZN560_HUMAN	C	612	ENSP00000301480:R612C	ENSP00000301480:R612C	R	-	1	0	ZNF560	9438789	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-0.740000	0.04861	0.199000	0.20427	0.313000	0.20887	CGC		0.418	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		53	486	0	0	0	1	0	53	486					A	9577789	G	A	9577789	3	1	53	1	0	0	0	0	1	0	0	0	18044	1145	40	1	542	1	ZNF560	19	9577789	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1013582	9577789	49551194	87	6560											
CILP2	148113	broad.mit.edu	37	chr19	19655586	19655586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggtgcgcgcctaCgccaacgacaagttcacccc	10	15	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:19655586C>T	ENST00000291495.5	+	8	2317	c.2232C>T	c.(2230-2232)taC>taT	p.Y744Y	CILP2_ENST00000586018.1_Silent_p.Y750Y	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	744						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCGCGCCTACGCCAACGACA	0.682																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2248-2250)taC>taT		cartilage intermediate layer protein 2							17	19	18					19																	19655586		2193	4284	6477	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655586C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2232C>T	19.37:g.19655586C>T						CILP2_ENST00000291495.4_Silent_p.Y744Y	p.Y750Y			Q8IUL8	CILP2_HUMAN			8	2352	+			744					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2250C>T	CCDS12405.1																																																																																				0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		18	126	0	0	0	1	0	18	126					T	19655586	C	T	19655586	2	4	53	1	0	0	0	0	0	0	0	1	3439	547	19	1		1	CILP2	19	19655586	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	10077797	19655586	39473397	88	6561											
ZNF737	100129842	broad.mit.edu	37	chr19	20727618	20727618	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgcagtaaggtgtgaggacGagttgaaggctttgccacat	15	6	0	2	rs572035753	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:20727618G>C	ENST00000427401.4	-	4	1485	c.1391C>G	c.(1390-1392)tCg>tGg	p.S464W		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTGTGAGGACGAGTTGAAGGC	0.423													c|||	9	0.00179712	0.0061	0.0	5008	,	,		22646	0.001		0.0	False		,,,				2504	0.0					ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1390-1392)tCg>tGg		zinc finger protein 737							99	97	97					19																	20727618		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727618G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1391C>G	19.37:g.20727618G>C	ENSP00000395733:p.Ser464Trp						p.S464W	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1485	-			464					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1391C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	0.083	-1.179663	0.01633	.	.	ENSG00000237440	ENST00000427401	T	0.37584	1.19	0.867	-1.69	0.08186	.	.	.	.	.	T	0.28300	0.0699	M	0.63208	1.945	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31052	-0.9957	9	0.21014	T	0.42	.	5.095	0.14729	0.0:0.0:0.6686:0.3314	.	464	C9JHM3	.	W	464	ENSP00000395733:S464W	ENSP00000395733:S464W	S	-	2	0	ZNF737	20519458	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-7.178000	0.00042	0.284000	0.22305	0.289000	0.19496	TCG		0.423	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		5	307	0	0	0	1	0	5	307					C	20727618	G	C	20727618	3	2	53	1	0	0	0	0	1	0	0	0	18179	1059	37	5	223	5	ZNF737	19	20727618	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1072032	20727618	38401365	89	6562											
LRFN1	57622	broad.mit.edu	37	chr19	39804696	39804696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctcggctgccacgagCcgacgctcagccgcagaatc	13	15	1	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:39804696C>T	ENST00000248668.4	-	1	1280	c.1281G>A	c.(1279-1281)cgG>cgA	p.R427R	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	427	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCCACGAGCCGACGCTCAG	0.677																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1279-1281)cgG>cgA		leucine rich repeat and fibronectin type III domain containing 1							17	24	21					19																	39804696		2030	4146	6176	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804696C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1281G>A	19.37:g.39804696C>T							p.R427R	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1280	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		427			Fibronectin type-III.		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.1281G>A	CCDS46071.1																																																																																				0.677	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		4	135	0	0	0	1	0	4	135					T	39804696	C	T	39804696	2	4	53	1	0	0	0	0	0	0	0	1	8975	726	26	2		2	LRFN1	19	39804696	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	19077078	39804696	19324287	90	6563											
FCGBP	8857	broad.mit.edu	37	chr19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcgtcacgtctacccGccagttccagtcatagctga	12	13	3	1	rs529826298		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		36603	0.0		0.0	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12598-12600)Cgg>Tgg		Fc fragment of IgG binding protein							180	193	188					19																	40368750		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368750G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12598C>T	19.37:g.40368750G>A	ENSP00000221347:p.Arg4200Trp						p.R4200W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12605	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4200			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12598C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214062	0.22289	.	.	ENSG00000090920	ENST00000221347	T	0.61274	0.12	3.37	1.05	0.20165	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.67487	0.2898	M	0.87180	2.865	0.09310	N	1	D	0.69078	0.997	P	0.54815	0.761	T	0.55879	-0.8071	9	0.39692	T	0.17	.	5.1058	0.14783	0.1084:0.0:0.328:0.5636	.	4200	Q9Y6R7	FCGBP_HUMAN	W	4200	ENSP00000221347:R4200W	ENSP00000221347:R4200W	R	-	1	2	FCGBP	45060590	0.000000	0.05858	0.390000	0.26220	0.110000	0.19582	-0.472000	0.06623	0.363000	0.24346	0.305000	0.20034	CGG		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	1628	0	0	0	1	0	9	1628					A	40368750	G	A	40368750	3	1	53	1	0	0	0	0	1	0	0	0	5803	1086	38	1	3655	1	FCGBP	19	40368750	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	564054	40368750	18760233	91	6564											
CEACAM6	4680	broad.mit.edu	37	chr19	42260672	42260672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaagagtggatggcaacAgtctaattgtaggatatgta	13	4	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:42260672A>C	ENST00000199764.6	+	2	447	c.229A>C	c.(229-231)Agt>Cgt	p.S77R	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	77	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGATGGCAACAGTCTAATTGT	0.502																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(229-231)Agt>Cgt		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							215	198	204					19																	42260672		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260672A>C	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.229A>C	19.37:g.42260672A>C	ENSP00000199764:p.Ser77Arg					CEA_ENST00000598976.1_Intron	p.S77R	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	447	+			77			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.229A>C	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	1.236	-0.622834	0.03636	.	.	ENSG00000086548	ENST00000199764	T	0.64438	-0.1	2.15	-4.29	0.03721	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19644	0.0472	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22906	-1.0203	9	0.26408	T	0.33	.	5.0844	0.14675	0.3708:0.2897:0.3395:0.0	.	77	P40199	CEAM6_HUMAN	R	77	ENSP00000199764:S77R	ENSP00000199764:S77R	S	+	1	0	CEACAM6	46952512	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.553000	0.00927	-1.856000	0.01161	-2.142000	0.00338	AGT		0.502	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			6	693	0	0	0	1	0	6	693					C	42260672	A	C	42260672	3	2	53	1	0	0	0	0	1	0	0	0	3205	188	7	4	235	4	CEACAM6	19	42260672	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	1891922	42260672	16868311	92	6565											
GYS1	2997	broad.mit.edu	37	chr19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacccataaaaatggccccGcacaaactcctggattcgag	8	13	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Cgg>Tgg		glycogen synthase 1 (muscle)							99	105	103					19																	49485993		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485993G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.925C>T	19.37:g.49485993G>A	ENSP00000317904:p.Arg309Trp					GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron	p.R309W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	6	1121	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	309					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.925C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		6	519	0	0	0	1	0	6	519					A	49485993	G	A	49485993	3	1	53	1	0	0	0	0	1	0	0	0	6942	1086	38	1	1332	1	GYS1	19	49485993	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	7225321	49485993	9642990	93	6566											
HAS1	3036	broad.mit.edu	37	chr19	52217079	52217079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagccaggccgcgaaggcCgccttggccagtgccacgcc	14	18	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:52217079C>T	ENST00000222115.1	-	5	1372	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	HAS1_ENST00000540069.2_Silent_p.A445A|HAS1_ENST00000601714.1_Silent_p.A453A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	446					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCGAAGGCCGCCTTGGCCA	0.697																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1333-1335)gcG>gcA		hyaluronan synthase 1							18	18	18					19																	52217079		2185	4273	6458	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217079C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1338G>A	19.37:g.52217079C>T						HAS1_ENST00000222115.1_Silent_p.A446A|HAS1_ENST00000601714.1_Silent_p.A453A	p.A445A			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1395	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	446					Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.1335G>A	CCDS12838.1																																																																																				0.697	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		12	66	0	0	0	1	0	12	66					T	52217079	C	T	52217079	2	4	53	1	0	0	0	0	0	0	0	1	6991	639	23	1		1	HAS1	19	52217079	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	2731086	52217079	6911904	94	6567											
ZNF347	84671	broad.mit.edu	37	chr19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacctccagtatgaactcTccgatgtcttgcaaggtgtg	9	10	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161	146	151					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	633	0	0	0	1	0	8	633					C	53644064	T	C	53644064	3	2	53	1	0	0	0	0	1	0	0	0	17914	1559	54	4	506	4	ZNF347	19	53644064	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	1426985	53644064	5484919	95	6568											
LILRA2	11027	broad.mit.edu	37	chr19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccctgggccctgtgagccCctcccacgggggccagtaca	12	18	0	1	rs560494676	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0.0	0.0029	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51	53	52					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	336	0	0	0	1	0	7	336					G	55086927	C	G	55086927	3	3	53	1	0	0	0	0	1	0	0	0	8817	623	22	5	878	5	LILRA2	19	55086927	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	1442863	55086927	4042056	96	6569											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600197	58600197	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcccgcaggggagcccagCagcatccctgtcaacagtgg	14	14	1	0	rs369976525		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:58600197C>A	ENST00000240727.6	-	3	810	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ZSCAN18_ENST00000600404.1_Silent_p.L193L|ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000421612.2_Silent_p.L2L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	137					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGAGCCCAGCAGCATCCCTG	0.602																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(409-411)ctG>ctT		zinc finger and SCAN domain containing 18		C	,,,	1,4405	2.1+/-5.4	0,1,2202	56	59	58		579,411,6,411	-1.1	0	19		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZSCAN18	NM_001145542.1,NM_001145543.1,NM_001145544.1,NM_023926.4	,,,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,,,	193/567,137/511,2/375,137/511	58600197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58600197C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.411G>T	19.37:g.58600197C>A						ZSCAN18_ENST00000421612.2_Silent_p.L2L|ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000600404.1_Silent_p.L193L	p.L137L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	810	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	137					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.411G>T	CCDS12971.1																																																																																				0.602	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		37	238	1	0	2.66277e-13	1	2.80109e-13	37	238					A	58600197	C	A	58600197	2	1	53	1	0	0	0	0	0	0	0	1	18283	697	25	3		3	ZSCAN18	19	58600197	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	3513270	58600197	528786	97	6570											
AVP	551	broad.mit.edu	37	chr20	3065237	3065237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggacatggccctcttgccGcccctcgggcagttctggaa	12	15	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:3065237G>A	ENST00000380293.3	-	1	133	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCCTCTTGCCGCCCCTCGGGC	0.647																																						ENST00000380293.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(82-84)ggC>ggT		arginine vasopressin							118	110	112					20																	3065237		2203	4300	6503	SO:0001819	synonymous_variant	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065237G>A	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.84C>T	20.37:g.3065237G>A							p.G28G	NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	133	-			28					A0AV35|O14935	Silent	SNP	ENST00000380293.3	37	c.84C>T	CCDS13045.1																																																																																				0.647	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		83	621	0	0	0	1	0	83	621					A	3065237	G	A	3065237	2	1	53	1	0	0	0	0	0	0	0	1	1230	1074	38	1		1	AVP	20	3065237	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		3065237	59960283	98	6571											
PTPN1	5770	broad.mit.edu	37	chr20	49195731	49195731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaaagacccttcttcCgttgatatcaagaaagtgct	9	8	2	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:49195731C>T	ENST00000371621.3	+	7	903	c.729C>T	c.(727-729)tcC>tcT	p.S243S	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.S170S	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	243	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.S243S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	ACCCTTCTTCCGTTGATATCA	0.483																																						ENST00000371621.3																			1	Substitution - coding silent(1)	p.S243S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(727-729)tcC>tcT		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						141	141	141					20																	49195731		2203	4300	6503	SO:0001819	synonymous_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195731C>T		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.729C>T	20.37:g.49195731C>T						PTPN1_ENST00000541713.1_Silent_p.S170S	p.S243S	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			7	903	+		Lung NSC(126;0.163)	243			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	c.729C>T	CCDS13430.1																																																																																				0.483	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			86	588	0	0	0	1	0	86	588					T	49195731	C	T	49195731	2	4	53	1	0	0	0	0	0	0	0	1	12827	639	23	1		1	PTPN1	20	49195731	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	46130494	49195731	13829789	99	6572											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31964845	31964845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctatgggtgctgtggctaCggaggcctgggctgtggtta	19	7	0	0	rs568427466		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr21:31964845C>T	ENST00000391624.1	+	1	87	c.60C>T	c.(58-60)taC>taT	p.Y20Y	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	20						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gctgtggctacggaggcctgg	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		15946	0.001		0.0	False		,,,				2504	0.0					ENST00000391624.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						c.(58-60)taC>taT		keratin associated protein 6-3							118	125	122					21																	31964845		2203	4300	6503	SO:0001819	synonymous_variant	337968							g.chr21:31964845C>T	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"Keratin associated proteins"	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.60C>T	21.37:g.31964845C>T							p.Y20Y	NM_181605.3	NP_853636.3					1	87	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.60C>T																																																																																					0.582	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		62	192	0	0	0	1	0	62	192					T	31964845	C	T	31964845	2	4	53	1	0	0	0	0	0	0	0	1	8602	547	19	1		1	KRTAP6-3	21	31964845	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		31964845	16165050	100	6573											
SGSM1	129049	broad.mit.edu	37	chr22	25294312	25294312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagttcatgtccatcaCgggcagcctggacatggccc	13	13	2	0	rs376575281		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:25294312C>T	ENST00000400359.4	+	20	2568	c.2561C>T	c.(2560-2562)aCg>aTg	p.T854M	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.T799M	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	854	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGTCCATCACGGGCAGCCTG	0.612																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2395-2397)aCg>aTg		small G protein signaling modulator 1		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4338		0,0,2169	57	64	61		2561,2396,2213,2378	4.2	0.4	22		61	1,8525		0,1,4262	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	81,81,81,81	0,1,6431	TT,TC,CC		0.0117,0.0,0.0078	benign,benign,benign,benign	854/1149,799/1094,738/1033,793/1088	25294312	1,12863	2169	4263	6432	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294312C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2561C>T	22.37:g.25294312C>T	ENSP00000383212:p.Thr854Met					SGSM1_ENST00000400359.4_Missense_Mutation_p.T854M	p.T799M	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2453	+			854			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2396C>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330557	0.24167	0.0	1.17E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07114	3.22;3.23	5.24	4.21	0.49690	Rab-GAP/TBC domain (2);	0.677319	0.14164	U	0.337193	T	0.10121	0.0248	L	0.34521	1.04	0.09310	N	1	P;P;D;P	0.59767	0.851;0.54;0.986;0.923	B;B;P;B	0.47206	0.204;0.023;0.541;0.266	T	0.17440	-1.0369	10	0.42905	T	0.14	-0.2681	11.6566	0.51322	0.1388:0.7275:0.1338:0.0	.	799;854;871;854	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	M	854;799;854	ENSP00000383211:T799M;ENSP00000383212:T854M	ENSP00000383211:T799M	T	+	2	0	SGSM1	23624312	0.004000	0.15560	0.388000	0.26195	0.808000	0.45660	1.049000	0.30392	1.327000	0.45338	0.591000	0.81541	ACG		0.612	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		54	175	0	0	0	1	0	54	175					T	25294312	C	T	25294312	3	4	53	1	0	0	0	0	1	0	0	0	14272	536	19	1	2639	1	SGSM1	22	25294312	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		25294312	26010254	101	6574											
SAMM50	25813	broad.mit.edu	37	chr22	44384997	44384997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttgcttaggagactAcctaggtggagaagcgtact	11	10	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:44384997A>G	ENST00000350028.4	+	13	1239	c.1082A>G	c.(1081-1083)tAc>tGc	p.Y361C	SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	361					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTAGGAGACTACCTAGGTGGA	0.517																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1081-1083)tAc>tGc		SAMM50 sorting and assembly machinery component							154	147	149					22																	44384997		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44384997A>G	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1082A>G	22.37:g.44384997A>G	ENSP00000345445:p.Tyr361Cys					SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C	p.Y361C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			13	1239	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	361					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.1082A>G	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988993	0.53934	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.42131	0.98;0.98	4.21	4.21	0.49690	Bacterial surface antigen (D15) (1);	0.063355	0.64402	D	0.000004	T	0.50888	0.1642	L	0.40543	1.245	0.80722	D	1	B;D	0.55385	0.022;0.971	B;P	0.62649	0.021;0.905	T	0.48305	-0.9047	10	0.41790	T	0.15	-20.455	12.8072	0.57619	1.0:0.0:0.0:0.0	.	166;361	B3KUE6;Q9Y512	.;SAM50_HUMAN	C	361;151	ENSP00000345445:Y361C;ENSP00000379505:Y151C	ENSP00000345445:Y361C	Y	+	2	0	SAMM50	42716330	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.497000	0.66924	1.682000	0.51000	0.528000	0.53228	TAC		0.517	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		130	377	0	0	0	1	0	130	377					G	44384997	A	G	44384997	3	3	53	1	0	0	0	0	1	0	0	0	13879	391	14	4	1132	4	SAMM50	22	44384997	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	19090685	44384997	6919569	102	6575											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	366						7	366	---	---	---	---	-	154157686	T	-	154157686	7	5	53	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ1-01A-12D-A40W-08		154157686	1112874	103	6576											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	108						9	108	---	---	---	---	-	4772585	CCA	-	4772583	7	5	54	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-FB-AAQ2-01A-31D-A40W-08		4772583	244478038	1	6577											
SLC25A33	84275	broad.mit.edu	37	chr1	9642431	9642431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggcgcgcctggtgttcCgggaagaaggctaccttgcc	15	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:9642431C>T	ENST00000302692.6	+	7	1048	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	280					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGTGTTCCGGGAAGAAGG	0.488																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(838-840)Cgg>Tgg		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							80	77	78					1																	9642431		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642431C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.838C>T	1.37:g.9642431C>T	ENSP00000306328:p.Arg280Trp						p.R280W	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	7	1048	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	280						Missense_Mutation	SNP	ENST00000302692.6	37	c.838C>T	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307851	0.60305	.	.	ENSG00000171612	ENST00000302692	T	0.80738	-1.41	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.329961	0.32852	N	0.005573	D	0.86896	0.6043	H	0.95950	3.745	0.47949	D	0.999552	B	0.33413	0.411	B	0.33254	0.16	D	0.88291	0.2943	10	0.87932	D	0	-12.7821	14.3012	0.66355	0.1483:0.8517:0.0:0.0	.	280	Q9BSK2	S2533_HUMAN	W	280	ENSP00000306328:R280W	ENSP00000306328:R280W	R	+	1	2	SLC25A33	9565018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.812000	0.55628	2.835000	0.97688	0.650000	0.86243	CGG		0.488	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		4	230	0	0	0	1	0	4	230					T	9642431	C	T	9642431	3	4	54	1	0	0	0	0	1	0	0	0	14547	643	23	1	864	1	SLC25A33	1	9642431	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	4869848	9642431	239608190	2	6578											
RCC2	55920	broad.mit.edu	37	chr1	17740096	17740096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagccccacgcccagGgaagtcaaacagcttcacca	10	15	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:17740096G>C	ENST00000375436.4	-	9	1331	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	RCC2_ENST00000375433.3_Missense_Mutation_p.P382A|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	382					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCACGCCCAGGGAAGTCAAAC	0.582																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1144-1146)Cct>Gct		regulator of chromosome condensation 2							77	80	79					1																	17740096		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17740096G>C		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1144C>G	1.37:g.17740096G>C	ENSP00000364585:p.Pro382Ala					RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	p.P382A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	9	1331	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	382					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1144C>G	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877573	0.91664	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.79749	-1.3;-1.3	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76342	-0.2994	10	0.07482	T	0.82	-25.2313	18.1015	0.89507	0.0:0.0:1.0:0.0	.	382	Q9P258	RCC2_HUMAN	A	382	ENSP00000364585:P382A;ENSP00000364582:P382A	ENSP00000364582:P382A	P	-	1	0	RCC2	17612683	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.831000	0.99420	2.687000	0.91594	0.655000	0.94253	CCT		0.582	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		6	499	0	0	0	1	0	6	499					C	17740096	G	C	17740096	3	2	54	1	0	0	0	0	1	0	0	0	13224	1232	43	5	444	5	RCC2	1	17740096	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8097665	17740096	231510525	3	6579											
MAP7D1	55700	broad.mit.edu	37	chr1	36636587	36636587	+	Frame_Shift_Del	DEL	C	C	-													ttcagctgtggtcgccaggaCccccccagagccaagacctt					rs145462639		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:36636587delC	ENST00000373151.2	+	2	278	c.62delC	c.(61-63)accfs	p.T21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.T21fs|MAP7D1_ENST00000316156.4_Frame_Shift_Del_p.T21fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTCGCCAGGACCCCCCCAGAG	0.612																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(61-63)acfs		MAP7 domain containing 1							59	64	62					1																	36636587		2203	4300	6503	SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636587delC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.62delC	1.37:g.36636587delC	ENSP00000362244:p.Thr21fs					MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.T21fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.T21fs	p.T21fs			Q3KQU3	MA7D1_HUMAN			2	515	+		Myeloproliferative disorder(586;0.0393)	21			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Del	DEL	ENST00000373151.2	37	c.62delC	CCDS30673.1																																																																																				0.612	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	393						7	393	---	---	---	---	-	36636587	C	-	36636587	7	5	54	1	0	1	0	1	0	0	0	0	9308	507	18	0	68	0	MAP7D1	1	36636587	Frame_Shift_Del	DEL	C	TCGA-FB-AAQ2-01A-31D-A40W-08	18896491	36636587	212614034	4	6580											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	12	7	1	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165	180	175					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	1284	0	0	0	1	0	8	1284					T	43783268	C	T	43783268	3	4	54	1	0	0	0	0	1	0	0	0	15945	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	7146681	43783268	205467353	5	6581											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145	153	150					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp					SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR	p.G222D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		7	1081	0	0	0	1	0	7	1081					T	54708959	C	T	54708959	3	4	54	1	0	0	0	0	1	0	0	0	15233	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	10925691	54708959	194541662	6	6582											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagttttgaactaataaaCgctctgaagccttttgggat	8	6	1	2	rs534493116	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:74507071C>T	ENST00000395089.1	-	6	1543	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R515H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15266	0.0		0.0	False		,,,				2504	0.0					ENST00000354431.4																			1	Substitution - Missense(1)	p.R515H(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1543-1545)cGt>cAt		leucine-rich repeats and IQ motif containing 3							102	100	101					1																	74507071		1797	4070	5867	SO:0001583	missense	127255							g.chr1:74507071C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1544G>A	1.37:g.74507071C>T	ENSP00000378524:p.Arg515His					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	p.R515H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1735	-			515					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1544G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383714	0.11524	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10382	2.88;2.88	5.86	2.52	0.30459	.	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B	0.34255	0.445	B	0.20184	0.028	T	0.44452	-0.9327	9	0.35671	T	0.21	.	8.4238	0.32716	0.0:0.7631:0.0:0.2369	.	515	A6PVS8	LRIQ3_HUMAN	H	515	ENSP00000378524:R515H;ENSP00000346414:R515H	ENSP00000346414:R515H	R	-	2	0	LRRIQ3	74279659	0.273000	0.24181	0.016000	0.15963	0.029000	0.11900	0.609000	0.24238	0.295000	0.22570	0.650000	0.86243	CGT		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		108	489	0	0	0	1	0	108	489					T	74507071	C	T	74507071	3	4	54	1	0	0	0	0	1	0	0	0	9068	536	19	1	338	1	LRRIQ3	1	74507071	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	19798112	74507071	174743550	7	6583											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	174						8	174	---	---	---	---	-	77334279	GCA	-	77334277	7	5	54	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-FB-AAQ2-01A-31D-A40W-08	2827206	77334277	171916344	8	6584											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		9	455						9	455	---	---	---	---	-	92447230	AGC	-	92447228	7	5	54	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-FB-AAQ2-01A-31D-A40W-08	15112951	92447228	156803393	9	6585											
GSTM5	2949	broad.mit.edu	37	chr1	110256173	110256173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcgctacattgcccGcaagcacaacctgtgtgagt	9	14	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:110256173G>A	ENST00000256593.3	+	4	303	c.245G>A	c.(244-246)cGc>cAc	p.R82H	GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H|GSTM5_ENST00000369813.1_Missense_Mutation_p.R41H|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	82	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.557																																						ENST00000369813.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(121-123)cGc>cAc		glutathione S-transferase mu 5	Glutathione(DB00143)						419	300	340					1																	110256173		2203	4300	6503	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110256173G>A	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.245G>A	1.37:g.110256173G>A	ENSP00000256593:p.Arg82His					GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H|GSTM5_ENST00000256593.3_Missense_Mutation_p.R82H|GSTM5_ENST00000492718.1_3'UTR	p.R41H			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1027	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	82			GST N-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.122G>A	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140693	0.77775	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.08634	3.07;3.07;3.07	4.42	3.51	0.40186	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.20170	0.0485	M	0.90252	3.1	0.45261	D	0.998267	D;D	0.69078	0.997;0.995	D;P	0.65010	0.931;0.866	T	0.02925	-1.1093	10	0.66056	D	0.02	.	9.8076	0.40803	0.0983:0.0:0.9017:0.0	.	41;82	Q5T8Q9;P46439	.;GSTM5_HUMAN	H	82;41;101	ENSP00000256593:R82H;ENSP00000358828:R41H;ENSP00000358827:R101H	ENSP00000256593:R82H	R	+	2	0	GSTM5	110057696	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.262000	0.58847	1.211000	0.43351	0.597000	0.82753	CGC		0.557	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		7	838	0	0	0	1	0	7	838					A	110256173	G	A	110256173	3	1	54	1	0	0	0	0	1	0	0	0	6871	1087	38	1	259	1	GSTM5	1	110256173	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	17808945	110256173	138994448	10	6586											
NBPF15	284565	broad.mit.edu	37	chr1	148594544	148594544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcatttgaggaagagcaTatcagcttcgccctttacgt	8	10	2	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:148594544T>C	ENST00000369187.3	+	19	2406	c.1917T>C	c.(1915-1917)caT>caC	p.H639H	NBPF15_ENST00000442702.2_Silent_p.H639H	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	639	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGGAAGAGCATATCAGCTTCG	0.433																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1915-1917)caT>caC		neuroblastoma breakpoint family, member 15							149	202	185					1																	148594544		2174	4293	6467	SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594544T>C	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1917T>C	1.37:g.148594544T>C						NBPF15_ENST00000369187.3_Silent_p.H639H	p.H639H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2984	+	all_hematologic(923;0.032)		639			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1917T>C	CCDS932.1																																																																																				0.433	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		9	1178	0	0	0	1	0	9	1178					C	148594544	T	C	148594544	2	2	54	1	0	0	0	0	0	0	0	1	10237	1403	49	4		4	NBPF15	1	148594544	Silent	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	38338371	148594544	100656077	11	6587											
OR6K3	391114	broad.mit.edu	37	chr1	158686997	158686997	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacactttttgaagacagaaCagttttttaatcgcattgtt	6	6	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:158686997C>G	ENST00000368146.1	-	1	956	c.957G>C	c.(955-957)ctG>ctC	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(955-957)ctG>ctC		olfactory receptor, family 6, subfamily K, member 3							125	128	127					1																	158686997		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686997C>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.957G>C	1.37:g.158686997C>G						OR6K3_ENST00000368145.1_Silent_p.L303L	p.L319L			Q8NGY3	OR6K3_HUMAN			1	956	-	all_hematologic(112;0.0378)		319					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.957G>C																																																																																					0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				6	628	0	0	0	1	0	6	628					G	158686997	C	G	158686997	2	3	54	1	0	0	0	0	0	0	0	1	11245	465	17	5		5	OR6K3	1	158686997	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	10092453	158686997	90563624	12	6588											
ATP1A2	477	broad.mit.edu	37	chr1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgcctggtgaagAacctggaggcggtggagacg	18	7	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					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)			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)			CCTGGTGAAGAACCTGGAGGC	0.587																																						ENST00000361216.3																			0				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						c.(1072-1074)Aac>Gac		ATPase, Na+/K+ transporting, alpha 2 polypeptide							108	96	100					1																	160098496		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098496A>G	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.1072A>G	1.37:g.160098496A>G	ENSP00000354490:p.Asn358Asp					ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D|ATP1A2_ENST00000472488.1_3'UTR	p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1161	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		358					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1072A>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994443	0.93167	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88896	-2.44;-2.44	4.77	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.70903	2.155	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;0.999;1.0	D	0.93459	0.6809	10	0.87932	D	0	.	13.5914	0.61961	1.0:0.0:0.0:0.0	.	203;358;258;358	B4DHD7;B1AKY9;F5GXJ7;P50993	.;.;.;AT1A2_HUMAN	D	203;358;358;61	ENSP00000354490:N358D;ENSP00000376066:N358D	ENSP00000354490:N358D	N	+	1	0	ATP1A2	158365120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.264000	0.95635	1.912000	0.55364	0.459000	0.35465	AAC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	393	0	0	0	1	0	10	393					G	160098496	A	G	160098496	3	3	54	1	0	0	0	0	1	0	0	0	1130	246	9	4	1106	4	ATP1A2	1	160098496	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	1411499	160098496	89152125	13	6589											
ATP1A4	480	broad.mit.edu	37	chr1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccaagactcgccGcaactcacttttccagcagg	6	16	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160151577G>A	ENST00000368081.4	+	19	3311	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	947					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)			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)			AAGACTCGCCGCAACTCACTT	0.527																																						ENST00000368081.4																			0				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						c.(2839-2841)cGc>cAc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							140	143	142					1																	160151577		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.chr1:160151577G>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.2840G>A	1.37:g.160151577G>A	ENSP00000357060:p.Arg947His					ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H	p.R947H	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	3311	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		947					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2840G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273977	0.59649	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.89050	-2.46;-2.46	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	M	0.93898	3.47	0.53688	D	0.999979	D	0.89917	1.0	D	0.69824	0.966	D	0.95874	0.8893	10	0.87932	D	0	.	14.3343	0.66578	0.0:0.0:1.0:0.0	.	947	Q13733	AT1A4_HUMAN	H	947;83	ENSP00000357060:R947H;ENSP00000433094:R83H	ENSP00000357060:R947H	R	+	2	0	ATP1A4	158418201	0.992000	0.36948	0.712000	0.30502	0.048000	0.14542	5.550000	0.67268	2.315000	0.78130	0.455000	0.32223	CGC		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		7	445	0	0	0	1	0	7	445					A	160151577	G	A	160151577	3	1	54	1	0	0	0	0	1	0	0	0	1132	1087	38	1	2914	1	ATP1A4	1	160151577	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	53081	160151577	89099044	14	6590											
PVRL4	81607	broad.mit.edu	37	chr1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-													caagagtgcggcgatcacacCcaccaccaccaccgaggctg							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)gtgggt>ggt	p.V353del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V87del|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1057-1062)ggt>g		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044104_161044106delCCA	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1058_1060delTGG	1.37:g.161044113_161044115delCCA	ENSP00000356991:p.Val353del					PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	p.VG353del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1360_1362	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		353					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1058_1060delTGG	CCDS1216.1																																																																																				0.606	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		7	556						7	556	---	---	---	---	-	161044106	CCA	-	161044104	7	5	54	1	0	1	0	1	0	0	0	0	12892	623	22	0	488	0	PVRL4	1	161044104	In_Frame_Del	DEL	CCA	TCGA-FB-AAQ2-01A-31D-A40W-08	892527	161044104	88206517	15	6591											
ASTN1	460	broad.mit.edu	37	chr1	176845741	176845741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgcttggcctggagcgcCgtcctgtgttgtccactccc	12	16	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:176845741C>T	ENST00000367654.3	-	21	3630	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1132L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGGAGCGCCGTCCTGTGTT	0.572																																						ENST00000367654.2																			1	Substitution - Missense(1)	p.R1132L(1)	lung(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3418-3420)cGg>cAg		astrotactin 1							118	89	99					1																	176845741		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176845741C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3419G>A	1.37:g.176845741C>T	ENSP00000356626:p.Arg1140Gln					ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q	p.R1140Q			O14525	ASTN1_HUMAN			21	3432	-			1140			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3419G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.786407	0.96937	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16196	2.36;2.78;2.78;2.36	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.16041	-1.0416	10	0.72032	D	0.01	-17.3769	18.3051	0.90177	0.0:1.0:0.0:0.0	.	1132;1132	O14525-2;B1AJS1	.;.	Q	1132;1132;1140;1132;1132	ENSP00000356629:R1132Q;ENSP00000354536:R1132Q;ENSP00000356626:R1140Q;ENSP00000395041:R1132Q	ENSP00000354536:R1132Q	R	-	2	0	ASTN1	175112364	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.390000	0.79816	2.400000	0.81607	0.655000	0.94253	CGG		0.572	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		43	141	0	0	0	1	0	43	141					T	176845741	C	T	176845741	3	4	54	1	0	0	0	0	1	0	0	0	1065	652	23	1	505	1	ASTN1	1	176845741	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	15801637	176845741	72404880	16	6592											
PRG4	10216	broad.mit.edu	37	chr1	186276130	186276130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccaccaccaccaagTctgcacccaccactcccaag	4	22	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:186276130T>C	ENST00000445192.2	+	7	1324	c.1279T>C	c.(1279-1281)Tct>Cct	p.S427P	PRG4_ENST00000367486.3_Missense_Mutation_p.S384P|PRG4_ENST00000367483.4_Missense_Mutation_p.S386P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.S334P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	427	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S427P(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGTCTGCACCCAC	0.657																																						ENST00000445192.2																			3	Substitution - Missense(3)	p.S427P(3)	endometrium(2)|skin(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						c.(1279-1281)Tct>Cct		proteoglycan 4							86	85	85					1																	186276130		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276130T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1279T>C	1.37:g.186276130T>C	ENSP00000399679:p.Ser427Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.S334P|PRG4_ENST00000367486.3_Missense_Mutation_p.S384P|PRG4_ENST00000367483.4_Missense_Mutation_p.S386P|PRG4_ENST00000367484.3_Intron	p.S427P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1324	+			427			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1279T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	4.035	0.003976	0.07866	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.43;3.56;3.41;3.57	2.81	-1.22	0.09494	.	.	.	.	.	T	0.01800	0.0057	N	0.01493	-0.835	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.48139	-0.9061	8	.	.	.	.	3.4198	0.07389	0.1975:0.5346:0.0:0.2678	.	293;334;427;386	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	384;293;386;334;427	ENSP00000356456:S384P;ENSP00000356453:S386P;ENSP00000356455:S334P;ENSP00000399679:S427P	.	S	+	1	0	PRG4	184542753	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.629000	0.05508	-0.061000	0.13110	-1.245000	0.01525	TCT		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	418	0	0	0	1	0	8	418					C	186276130	T	C	186276130	3	2	54	1	0	0	0	0	1	0	0	0	12528	1667	58	4	1301	4	PRG4	1	186276130	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	9430389	186276130	62974491	17	6593			1	10		2	2	14	N	T_CTC	4.493269e-05
PRG4	10216	broad.mit.edu	37	chr1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-													caccaagtctgcacccaccaCtcccaaggagcctgcaccca							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.P339del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	432	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						GCACCCACCACTCCCAAGGAGCC	0.655																																						ENST00000445192.2																			0				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						c.(1291-1296)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276143_186276145delCTC	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.1292_1294delCTC	1.37:g.186276143_186276145delCTC	ENSP00000399679:p.Pro432del					PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367484.3_Intron	p.TP431del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1337_1339	+			431			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1292_1294delCTC	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		10	546						10	546	---	---	---	---	-	186276145	CTC	-	186276143	7	5	54	1	0	1	0	1	0	0	0	0	12528	565	20	0	1314	0	PRG4	1	186276143	In_Frame_Del	DEL	CTC	TCGA-FB-AAQ2-01A-31D-A40W-08	13	186276143	62974478	18	6594			1	10		2	2	14	N	T_CTC	4.493269e-05
TPO	7173	broad.mit.edu	37	chr2	1426896	1426896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgccatgtacgccacgatGcagaggtgagccttgcggag	14	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:1426896G>T	ENST00000345913.4	+	3	265	c.174G>T	c.(172-174)atG>atT	p.M58I	TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(172-174)atG>atT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						69	60	63					2																	1426896		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426896G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.174G>T	2.37:g.1426896G>T	ENSP00000318820:p.Met58Ile					TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I	p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	265	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	58					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.174G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377425	0.24944	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		30	117	1	0	3.99451e-17	1	4.21955e-17	30	117					T	1426896	G	T	1426896	3	4	54	1	0	0	0	0	1	0	0	0	16463	1319	46	3	180	3	TPO	2	1426896	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		1426896	241772477	19	6595											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	385						7	385	---	---	---	---	-	26693556	CTT	-	26693554	7	5	54	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FB-AAQ2-01A-31D-A40W-08	25266658	26693554	216505819	20	6596											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	732	0	0	0	1	0	6	732					T	27324303	C	T	27324303	3	4	54	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	630749	27324303	215875070	21	6597											
LTBP1	4052	broad.mit.edu	37	chr2	33572565	33572565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcagtgccgctccCggacctccacaggtaagtcc	12	15	0	1	rs144093447		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:33572565C>T	ENST00000404816.2	+	26	4341	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1330					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.R1331R(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)				GTGCCGCTCCCGGACCTCCAC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.001					ENST00000404816.2																			1	Substitution - coding silent(1)	p.R1331R(1)	lung(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						c.(3988-3990)Cgg>Tgg		latent transforming growth factor beta binding protein 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405		0,1,2202	168	158	161		3010,2884,2851,2725,3988	5.2	0.5	2	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1004/1396,962/1354,951/1343,909/1301,1330/1722	33572565	1,13005	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.chr2:33572565C>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.3988C>T	2.37:g.33572565C>T	ENSP00000386043:p.Arg1330Trp					LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W	p.R1330W			Q14766	LTBP1_HUMAN			26	4341	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1330					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3988C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788854	0.90367	2.27E-4	0.0	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;T;T;T;T;T;D;D	0.85339	-1.53;-1.52;-1.46;-1.41;-1.45;-1.42;-1.42;-1.97;-1.61	5.19	5.19	0.71726	.	.	.	.	.	D	0.90896	0.7139	L	0.55213	1.73	0.53005	D	0.999965	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.972;0.971;0.987;0.999	P;P;D;P;P;P;P	0.75484	0.895;0.794;0.986;0.742;0.685;0.768;0.899	D	0.91362	0.5112	9	0.66056	D	0.02	.	19.0846	0.93198	0.0:1.0:0.0:0.0	.	228;1330;962;951;1004;1005;1331	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	W	1330;1331;1005;962;951;951;1004;228;166	ENSP00000386043:R1330W;ENSP00000346467:R1331W;ENSP00000374653:R1005W;ENSP00000393057:R962W;ENSP00000384373:R951W;ENSP00000385359:R951W;ENSP00000384091:R1004W;ENSP00000272273:R228W;ENSP00000395211:R166W	ENSP00000272273:R228W	R	+	1	2	LTBP1	33426069	0.493000	0.26035	0.536000	0.28039	0.799000	0.45148	2.319000	0.43788	2.594000	0.87642	0.561000	0.74099	CGG		0.557	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		7	332	0	0	0	1	0	7	332					T	33572565	C	T	33572565	3	4	54	1	0	0	0	0	1	0	0	0	9111	643	23	1	4145	1	LTBP1	2	33572565	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	6248262	33572565	209626808	22	6598											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A													tttccttacatctttctcagINSaaaaaaaagaagagaccatt							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	11	858						11	858	---	---	---	---	A	102638649	-	A	102638648	8	5	54	1	0	1	1	0	0	0	1	0	7689	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	69066083	102638648	140560725	23	6599											
NPHP1	4867	broad.mit.edu	37	chr2	110922260	110922260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaacaagacagaagatgCccgcctctgaaatcgctttc	8	11	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:110922260C>T	ENST00000393272.3	-	8	873	c.776G>A	c.(775-777)gGc>gAc	p.G259D	NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.G259D|NPHP1_ENST00000417665.1_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	259					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACAGAAGATGCCCGCCTCTGA	0.458																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(775-777)gGc>gAc		nephronophthisis 1 (juvenile)							124	133	130					2																	110922260		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110922260C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.776G>A	2.37:g.110922260C>T	ENSP00000376953:p.Gly259Asp					NPHP1_ENST00000393272.3_Missense_Mutation_p.G259D|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron	p.G259D			O15259	NPHP1_HUMAN			8	849	-			259					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.776G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102886	0.20632	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.64438	-0.1;-0.06	4.59	3.72	0.42706	.	0.678739	0.14107	N	0.341008	T	0.49321	0.1550	N	0.22421	0.69	0.19300	N	0.99997	P;P	0.44946	0.761;0.846	B;B	0.43194	0.234;0.411	T	0.39333	-0.9619	10	0.66056	D	0.02	-3.7449	8.7413	0.34558	0.0:0.8968:0.0:0.1032	.	259;259	O15259;O15259-4	NPHP1_HUMAN;.	D	259	ENSP00000313169:G259D;ENSP00000376953:G259D	ENSP00000313169:G259D	G	-	2	0	NPHP1	110279549	0.009000	0.17119	0.004000	0.12327	0.017000	0.09413	1.848000	0.39309	1.180000	0.42898	-0.219000	0.12488	GGC		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		6	638	0	0	0	1	0	6	638					T	110922260	C	T	110922260	3	4	54	1	0	0	0	0	1	0	0	0	10621	739	26	2	1477	2	NPHP1	2	110922260	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	8283612	110922260	132277113	24	6600											
FKBP7	65977	broad.mit.edu	37	chr2	179343217	179343217	+	5'Flank	DEL	T	T	-													tctgaataagaaatgcatggTttttggcatcggctccagca							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113	133	127					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		8	1262						8	1262	---	---	---	---	-	179343217	T	-	179343217	6	5	54	0	1	1	0	1	0	0	0	0	5938	1725	60	0		0	FKBP7	2	179343217	5'Flank	DEL	T	TCGA-FB-AAQ2-01A-31D-A40W-08	68420957	179343217	63856156	25	6601											
ZNF385B	151126	broad.mit.edu	37	chr2	180308122	180308122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgaggacacggctgccGccgctgcgagaggtgaggac	18	12	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:180308122G>A	ENST00000410066.1	-	10	1874	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	424	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACGGCTGCCGCCGCTGCGAG	0.607																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1270-1272)gCg>gTg		zinc finger protein 385B							23	32	29					2																	180308122		2202	4300	6502	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180308122G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1271C>T	2.37:g.180308122G>A	ENSP00000386845:p.Ala424Val					ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V	p.A424V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	1874	-			424					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.1271C>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998461	0.54147	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.35973	1.28;1.3;1.28;1.3	5.49	5.49	0.81192	.	0.257134	0.40728	N	0.001021	T	0.47248	0.1435	L	0.39147	1.195	0.58432	D	0.999999	D;D	0.65815	0.995;0.976	P;P	0.54815	0.761;0.488	T	0.43442	-0.9391	10	0.62326	D	0.03	-20.3691	19.3766	0.94512	0.0:0.0:1.0:0.0	.	424;348	Q569K4;Q569K4-2	Z385B_HUMAN;.	V	424;322;348;322	ENSP00000386845:A424V;ENSP00000338225:A322V;ENSP00000386379:A348V;ENSP00000386507:A322V	ENSP00000338225:A322V	A	-	2	0	ZNF385B	180016367	1.000000	0.71417	0.160000	0.22671	0.013000	0.08279	7.203000	0.77864	2.565000	0.86533	0.561000	0.74099	GCG		0.607	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		18	68	0	0	0	1	0	18	68					A	180308122	G	A	180308122	3	1	54	1	0	0	0	0	1	0	0	0	17930	1087	38	1	148	1	ZNF385B	2	180308122	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	964905	180308122	62891251	26	6602											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	280						8	280	---	---	---	---	-	227660810	GCT	-	227660808	7	5	54	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-FB-AAQ2-01A-31D-A40W-08	47352686	227660808	15538565	27	6603											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		7	245						7	245	---	---	---	---	T	234394237	-	T	234394236	7	5	54	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	6733428	234394236	8805137	28	6604											
SETD5	55209	broad.mit.edu	37	chr3	9506122	9506122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagacttgttgagcccAttaaagaaatggaagtctcg	9	8	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:9506122A>G	ENST00000406341.1	+	17	2680	c.2490A>G	c.(2488-2490)ccA>ccG	p.P830P	SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Silent_p.P732P|SETD5_ENST00000407969.1_Silent_p.P849P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	830										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)		TGTTGAGCCCATTAAAGAAAT	0.428																																						ENST00000402466.1																			0				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						c.(2194-2196)ccA>ccG		SET domain containing 5							158	152	154					3																	9506122		1908	4129	6037	SO:0001819	synonymous_variant	55209							g.chr3:9506122A>G	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.2490A>G	3.37:g.9506122A>G						SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000407969.1_Silent_p.P849P|SETD5_ENST00000406341.1_Silent_p.P830P	p.P732P			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	19	2964	+	Medulloblastoma(99;0.227)		830					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2196A>G	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.249061	0.22880	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.78	3.28	0.37604	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	-10.4749	5.9389	0.19181	0.4756:0.1792:0.0:0.3452	.	.	.	.	V	498;142	.	.	I	+	1	0	SETD5	9481122	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.507000	0.22675	0.386000	0.24997	0.533000	0.62120	ATT		0.428	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		197	635	0	0	0	1	0	197	635					G	9506122	A	G	9506122	2	3	54	1	0	0	0	0	0	0	0	1	14184	204	8	4		4	SETD5	3	9506122	Silent	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08		9506122	188516308	29	6605											
KALRN	8997	broad.mit.edu	37	chr3	123813705	123813705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgacggaccgcttctgggaCcagtggtatctctggtatct	12	10	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:123813705C>G	ENST00000240874.3	+	1	178	c.21C>G	c.(19-21)gaC>gaG	p.D7E	KALRN_ENST00000360013.3_Missense_Mutation_p.D7E|KALRN_ENST00000460856.1_Missense_Mutation_p.D7E|KALRN_ENST00000477496.1_3'UTR	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTCTGGGACCAGTGGTATC	0.557																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(19-21)gaC>gaG		kalirin, RhoGEF kinase							188	135	153					3																	123813705		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123813705C>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.21C>G	3.37:g.123813705C>G	ENSP00000240874:p.Asp7Glu					KALRN_ENST00000240874.3_Missense_Mutation_p.D7E|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_Missense_Mutation_p.D7E	p.D7E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			1	148	+			7					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.21C>G	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.619680	0.46736	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.59772	0.78;0.71;0.24	3.7	2.81	0.32909	.	0.724489	0.11133	U	0.596093	T	0.40767	0.1130	N	0.08118	0	0.80722	D	1	P;P;P	0.41597	0.643;0.643;0.756	B;B;P	0.49752	0.417;0.417;0.621	T	0.31558	-0.9939	10	0.02654	T	1	.	8.5829	0.33640	0.2295:0.7705:0.0:0.0	.	7;7;7	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	E	7	ENSP00000418611:D7E;ENSP00000240874:D7E;ENSP00000353109:D7E	ENSP00000240874:D7E	D	+	3	2	KALRN	125296395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.530000	0.23036	1.118000	0.41863	0.486000	0.48141	GAC		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		46	163	0	0	0	1	0	46	163					G	123813705	C	G	123813705	3	3	54	1	0	0	0	0	1	0	0	0	8005	506	18	5	23	5	KALRN	3	123813705	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	114307583	123813705	74208725	30	6606											
RASA2	5922	broad.mit.edu	37	chr3	141292025	141292025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtgaaatcgatcctAttaaattgaaagagggagat	9	5	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:141292025A>G	ENST00000452898.1	+	13	1356	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	RASA2_ENST00000286364.3_Missense_Mutation_p.I441V	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	441	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATCGATCCTATTAAATTGAA	0.264																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1321-1323)Att>Gtt		RAS p21 protein activator 2							26	30	29					3																	141292025		2182	4275	6457	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141292025A>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1321A>G	3.37:g.141292025A>G	ENSP00000391677:p.Ile441Val					RASA2_ENST00000452898.1_Missense_Mutation_p.I441V	p.I441V			Q15283	RASA2_HUMAN			13	1356	+			441			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1321A>G		.	.	.	.	.	.	.	.	.	.	A	1.433	-0.569702	0.03910	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.79141	-1.24;-1.24	5.48	2.98	0.34508	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.209202	0.42682	N	0.000671	T	0.51398	0.1672	N	0.03194	-0.395	0.29030	N	0.885756	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.006;0.003;0.006	T	0.42716	-0.9435	10	0.25106	T	0.35	.	7.8427	0.29408	0.692:0.2346:0.0734:0.0	.	33;441;441;441	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	V	441;441;33	ENSP00000286364:I441V;ENSP00000391677:I441V	ENSP00000286364:I441V	I	+	1	0	RASA2	142774715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.229000	0.42990	1.041000	0.40125	0.533000	0.62120	ATT		0.264	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		54	211	0	0	0	1	0	54	211					G	141292025	A	G	141292025	3	3	54	1	0	0	0	0	1	0	0	0	13111	449	16	4	1371	4	RASA2	3	141292025	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	17478320	141292025	56730405	31	6607											
DRD5	1816	broad.mit.edu	37	chr4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcgctgctggtcatGccctggaaggcagtcgccga	15	12	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGCTGGTCATGCCCTGGAAGG	0.637																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(283-285)atG>atA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783938G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.285G>A	4.37:g.9783938G>A	ENSP00000306129:p.Met95Ile						p.M95I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	681	+			95					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.285G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389198	0.82902	.	.	ENSG00000169676	ENST00000304374	T	0.73363	-0.74	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.72118	2.19	0.80722	D	1	B	0.27068	0.167	B	0.29942	0.109	T	0.76929	-0.2777	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	95	P21918	DRD5_HUMAN	I	95	ENSP00000306129:M95I	ENSP00000306129:M95I	M	+	3	0	DRD5	9393036	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	ATG		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	206	0	0	0	1	0	7	206					A	9783938	G	A	9783938	3	1	54	1	0	0	0	0	1	0	0	0	4776	1319	46	2	287	2	DRD5	4	9783938	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		9783938	181370338	32	6608											
PROL1	58503	broad.mit.edu	37	chr4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaaattctcgccaaccGtcctcacacagtattgctca	4	15	4	0	rs369329579		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(631-633)cGt>cAt		proline rich, lacrimal 1		C	HIS/ARG	0,4052		0,0,2026	115	119	118		632	1.3	0	4		118	2,8366		0,2,4182	no	missense	PROL1	NM_021225.4	29	0,2,6208	AA,AG,GG		0.0239,0.0,0.0161	benign	211/249	71275677	2,12418	2026	4184	6210	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275677G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.632G>A	4.37:g.71275677G>A	ENSP00000382485:p.Arg211His						p.R211H	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	806	+		all_hematologic(202;0.196)	211			Thr-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.632G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361243	0.41801	0.0	2.39E-4	ENSG00000171199	ENST00000399575	T	0.42131	0.98	3.08	1.33	0.21861	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.08055	0.003	T	0.15206	-1.0445	9	0.44086	T	0.13	.	3.3539	0.07162	0.0:0.5226:0.2206:0.2569	.	211	Q99935	PROL1_HUMAN	H	211	ENSP00000382485:R211H	ENSP00000382485:R211H	R	+	2	0	PROL1	71310266	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.417000	0.07088	0.045000	0.15804	-0.187000	0.12897	CGT		0.448	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		6	407	0	0	0	1	0	6	407					A	71275677	G	A	71275677	3	1	54	1	0	0	0	0	1	0	0	0	12601	1145	40	1	638	1	PROL1	4	71275677	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	61491739	71275677	119878599	33	6609											
DSPP	1834	broad.mit.edu	37	chr4	88534264	88534264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatattatgaccctgaagGcaaagaagatccccataatg	8	8	0	5			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:88534264G>A	ENST00000282478.7	+	3	959	c.926G>A	c.(925-927)gGc>gAc	p.G309D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G309D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	309					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)			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)		GACCCTGAAGGCAAAGAAGAT	0.438																																						ENST00000399271.1																			0				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						c.(925-927)gGc>gAc		dentin sialophosphoprotein							65	67	67					4																	88534264		1896	4111	6007	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534264G>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.926G>A	4.37:g.88534264G>A	ENSP00000282478:p.Gly309Asp					RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G309D	p.G309D	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1046	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	309					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.926G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	5.743	0.321511	0.10845	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	4.54	-3.71	0.04424	.	.	.	.	.	T	0.74898	0.3777	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.59721	-0.7401	9	0.05959	T	0.93	1.6285	10.5668	0.45177	0.2505:0.1385:0.6109:0.0	.	309	Q9NZW4	DSPP_HUMAN	D	309	ENSP00000382213:G309D;ENSP00000282478:G309D	ENSP00000282478:G309D	G	+	2	0	DSPP	88753288	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.014000	0.12656	-0.930000	0.03752	-0.484000	0.04775	GGC		0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		4	132	0	0	0	1	0	4	132					A	88534264	G	A	88534264	3	1	54	1	0	0	0	0	1	0	0	0	4798	1203	42	2	936	2	DSPP	4	88534264	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	17258587	88534264	102620012	34	6610											
TET2	54790	broad.mit.edu	37	chr4	106155430	106155430	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctccttcagatcaagAaattgaaacaagaccaaaag	8	9	2	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:106155430A>T	ENST00000540549.1	+	3	1191	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*|TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K132*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	111					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L107fs*8(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGATCAAGAAATTGAAACA	0.413			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.L107fs*8(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(394-396)Aaa>Taa		tet methylcytosine dioxygenase 2							61	59	60					4																	106155430		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155430A>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.331A>T	4.37:g.106155430A>T	ENSP00000442788:p.Lys111*					TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000540549.1_Nonsense_Mutation_p.K111*	p.K132*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1191	+		Myeloproliferative disorder(5;0.0393)	111					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.394A>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	35	5.499172	0.96355	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.51	5.51	0.81932	.	0.464604	0.16713	N	0.202570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	.	.	.	X	111;111;111;132;111;111;111;111	.	ENSP00000265149:K111X	K	+	1	0	TET2	106374879	1.000000	0.71417	0.891000	0.34965	0.970000	0.65996	6.405000	0.73272	2.095000	0.63458	0.528000	0.53228	AAA		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		6	243	0	0	0	1	0	6	243					T	106155430	A	T	106155430	4	4	54	1	0	0	0	0	0	1	0	0	15822	247	9	5	333	5	TET2	4	106155430	Nonsense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	17621166	106155430	84998846	35	6611											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	92	0	0	0	1	0	5	92					T	140811108	C	T	140811108	2	4	54	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	34655678	140811108	50343168	36	6612											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239387	5239387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcaccaccacaccaacCgtgagtactttagagctgcc	7	16	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						CCACACCAACCGTGAGTACTT	0.512																																						ENST00000274181.7																			0				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						c.e15+1		ADAM metallopeptidase with thrombospondin type 1 motif, 16							136	135	135					5																	5239387		2044	4196	6240	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239387C>T	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.2278+1C>T	5.37:g.5239387C>T							p.Q760_splice	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2416	+			760			Spacer.		C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37	c.2278_splice	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.165790	0.98686	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.5469	0.76108	0.0:0.8611:0.1389:0.0	.	.	.	.	X	760	.	ENSP00000274181:Q760X	Q	+	1	0	ADAMTS16	5292387	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.676000	0.46883	1.410000	0.46936	0.655000	0.94253	CAG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Nonsense_Mutation	101	338	0	0	0	1	0	101	338					T	5239387	C	T	5239387	5	4	54	1	0	0	0	0	0	0	1	0	261	666	23	1	2336	1	ADAMTS16	5	5239387	Splice_Site	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		5239387	175675873	37	6613											
DNAH5	1767	broad.mit.edu	37	chr5	13900472	13900472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaattcccctgtgcctGgagccttcaccaataatgaa	6	13	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:13900472G>A	ENST00000265104.4	-	15	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	701	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTGTGCCTGGAGCCTTCAC	0.413									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2101-2103)cCa>cTa		dynein, axonemal, heavy chain 5							72	74	73					5																	13900472		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13900472G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2102C>T	5.37:g.13900472G>A	ENSP00000265104:p.Pro701Leu						p.P701L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			15	2206	-	Lung NSC(4;0.00476)		701			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2102C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.55413	0.52	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.108809	0.64402	D	0.000006	T	0.67363	0.2885	M	0.85542	2.76	0.80722	D	1	B	0.31655	0.334	B	0.41174	0.349	T	0.67998	-0.5525	10	0.44086	T	0.13	.	19.3805	0.94530	0.0:0.0:1.0:0.0	.	701	Q8TE73	DYH5_HUMAN	L	701	ENSP00000265104:P701L	ENSP00000265104:P701L	P	-	2	0	DNAH5	13953472	1.000000	0.71417	0.900000	0.35374	0.939000	0.58152	7.508000	0.81686	2.583000	0.87209	0.650000	0.86243	CCA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		67	239	0	0	0	1	0	67	239					A	13900472	G	A	13900472	3	1	54	1	0	0	0	0	1	0	0	0	4620	1348	47	2	12032	2	DNAH5	5	13900472	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8661085	13900472	167014788	38	6614											
TTC37	9652	broad.mit.edu	37	chr5	94803623	94803623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctcagtaggtaccaacGtgcagttgatgcaatagatt	11	7	1	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:94803623G>A	ENST00000358746.2	-	42	4865	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1523						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGGTACCAACGTGCAGTTGAT	0.358																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4567-4569)Cgt>Tgt		tetratricopeptide repeat domain 37							119	110	113					5																	94803623		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94803623G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4567C>T	5.37:g.94803623G>A	ENSP00000351596:p.Arg1523Cys						p.R1523C	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			42	4865	-			1523					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4567C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737379	0.89482	.	.	ENSG00000198677	ENST00000358746	D	0.81659	-1.52	5.27	5.27	0.74061	.	0.073499	0.64402	D	0.000001	D	0.88540	0.6464	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89541	0.3792	10	0.87932	D	0	.	18.4885	0.90838	0.0:0.0:1.0:0.0	.	1523	Q6PGP7	TTC37_HUMAN	C	1523	ENSP00000351596:R1523C	ENSP00000351596:R1523C	R	-	1	0	TTC37	94829379	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.660000	0.61511	2.471000	0.83476	0.561000	0.74099	CGT		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		14	201	0	0	0	1	0	14	201					A	94803623	G	A	94803623	3	1	54	1	0	0	0	0	1	0	0	0	16759	1145	40	1	135	1	TTC37	5	94803623	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	80903151	94803623	86111637	39	6615											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		10	1039						10	1039	---	---	---	---	-	124079815	CTC	-	124079813	7	5	54	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-FB-AAQ2-01A-31D-A40W-08	29276190	124079813	56835447	40	6616											
GABRA6	2559	broad.mit.edu	37	chr5	161128572	161128572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaatagtttcatcttcCgaggccaataaagtgctcac	7	11	3	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			1	Substitution - coding silent(1)	p.S385S(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1123-1125)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104	104	104					5																	161128572		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128572C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1155C>T	5.37:g.161128572C>T		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.S385S	p.S375S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1367	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	385					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1125C>T	CCDS4356.1																																																																																				0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			92	317	0	0	0	1	0	92	317					T	161128572	C	T	161128572	2	4	54	1	0	0	0	0	0	0	0	1	6192	639	23	1		1	GABRA6	5	161128572	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	37048759	161128572	19786688	41	6617											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552086	178552086	+	Missense_Mutation	SNP	T	T	G													cgtgcacggagcgggtggtgTtgtcgtgtagcggctgaatg					rs376054177		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:178552086T>G	ENST00000251582.7	-	19	2947	c.2846A>C	c.(2845-2847)aAc>aCc	p.N949T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	949	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGGTGGTGTTGTCGTGTAG	0.697																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2845-2847)aAc>aCc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							111	112	112					5																	178552086		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552086T>G	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2846A>C	5.37:g.178552086T>G	ENSP00000251582:p.Asn949Thr						p.N949T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2947	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	949			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2846A>C	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344710	0.41498	.	.	ENSG00000087116	ENST00000251582	T	0.54071	0.59	5.31	4.16	0.48862	.	0.196433	0.35291	N	0.003319	T	0.56031	0.1958	L	0.46741	1.465	0.80722	D	1	D	0.52996	0.957	P	0.56434	0.798	T	0.52381	-0.8583	10	0.32370	T	0.25	.	9.8162	0.40853	0.0:0.0807:0.0:0.9193	.	949	O95450	ATS2_HUMAN	T	949	ENSP00000251582:N949T	ENSP00000251582:N949T	N	-	2	0	ADAMTS2	178484692	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	1.694000	0.37752	2.008000	0.58898	0.533000	0.62120	AAC		0.697	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	815	0	0	0	1	0	7	815					G	178552086	T	G	178552086	3	3	54	1	0	0	0	0	1	0	0	0	265	1725	60	4	805	4	ADAMTS2	5	178552086	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	17423514	178552086	2363174	42	6618	44	2									
ADAMTS2	9509	broad.mit.edu	37	chr5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T													cacggagcgggtggtgttgtCgtgtagcggctgaatgcagc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2842-2844)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 2							112	113	113					5																	178552090		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552090C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2842G>A	5.37:g.178552090C>T	ENSP00000251582:p.Asp948Asn						p.D948N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2943	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	948			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2842G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775731	0.02951	.	.	ENSG00000087116	ENST00000251582	T	0.53857	0.6	5.31	2.0	0.26442	.	0.301971	0.27792	N	0.017833	T	0.26774	0.0655	N	0.12422	0.21	0.80722	D	1	B	0.24317	0.101	B	0.22601	0.04	T	0.10730	-1.0617	10	0.06757	T	0.87	.	8.4694	0.32975	0.0:0.7177:0.0:0.2823	.	948	O95450	ATS2_HUMAN	N	948	ENSP00000251582:D948N	ENSP00000251582:D948N	D	-	1	0	ADAMTS2	178484696	0.966000	0.33281	0.957000	0.39632	0.030000	0.12068	1.550000	0.36223	0.026000	0.15269	-1.140000	0.01884	GAC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		9	833	0	0	0	1	0	9	833					T	178552090	C	T	178552090	3	4	54	1	0	0	0	0	1	0	0	0	265	884	31	1	809	1	ADAMTS2	5	178552090	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	4	178552090	2363170	43	6619	44	2									
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggacgaaatgCcggtgtcagggtggacctgc	15	11	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547																																						ENST00000607124.1																			2	Substitution - Missense(2)	p.G54D(2)	prostate(1)|kidney(1)	breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(160-162)gGc>gAc		histone cluster 1, H2bj							207	196	200					6																	27100369		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100369C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.161G>A	6.37:g.27100369C>T	ENSP00000476136:p.Gly54Asp					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D	p.G54D			P06899	H2B1J_HUMAN			1	160	-			54					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.161G>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377785	0.61735	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.69435	-0.4;-0.4	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83133	0.5188	M	0.93150	3.385	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	D	0.87687	0.2551	9	0.87932	D	0	.	14.8046	0.69942	0.0:1.0:0.0:0.0	.	54	P06899	H2B1J_HUMAN	D	54	ENSP00000445633:G54D;ENSP00000342886:G54D	ENSP00000342886:G54D	G	-	2	0	HIST1H2BJ	27208348	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	4.245000	0.58734	2.273000	0.75805	0.591000	0.81541	GGC		0.547	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		7	904	0	0	0	1	0	7	904					T	27100369	C	T	27100369	3	4	54	1	0	0	0	0	1	0	0	0	7179	739	26	2	223	2	HIST1H2BJ	6	27100369	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		27100369	144014698	44	6620											
C6orf154	221424	broad.mit.edu	37	chr6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-													cgccagcccctcctgccactTcctcctcctcctctccctca							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		7	280						7	280	---	---	---	---	-	43475291	TCC	-	43475289	7	5	54	1	0	1	0	1	0	0	0	0	2346	1783	62	0	173	0	C6orf154	6	43475289	In_Frame_Del	DEL	TCC	TCGA-FB-AAQ2-01A-31D-A40W-08	16374920	43475289	127639778	45	6621											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282	295	291					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		9	1283	0	0	0	1	0	9	1283					A	112522827	G	A	112522827	3	1	54	1	0	0	0	0	1	0	0	0	8639	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	69047538	112522827	58592240	46	6622											
RPS12	6206	broad.mit.edu	37	chr6	133138134	133138134	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactaggagaatgggtaggCctttgtaaaattgacagaga	12	4	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORD100_ENST00000408573.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69	67	67					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		4	195	0	0	0	1	0	4	195					G	133138134	C	G	133138134	2	3	54	1	0	0	0	0	0	0	0	1	13672	726	26	5		5	RPS12	6	133138134	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	20615307	133138134	37976933	47	6623											
ABCB4	5244	broad.mit.edu	37	chr7	87069091	87069091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagggcacgtgcaatggcGatcctctgcttctgcccacc	10	16	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:87069091G>A	ENST00000265723.4	-	14	1734	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000453593.1_Silent_p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		I -> F (in PFIC3). {ECO:0000269|PubMed:11313315}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCAATGGCGATCCTCTGCT	0.532																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1621-1623)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							130	116	121					7																	87069091		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069091G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1623C>T	7.37:g.87069091G>A						ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I	p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			14	1734	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		541		I -> F (in PFIC3).	ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1623C>T	CCDS5606.1																																																																																				0.532	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		6	396	0	0	0	1	0	6	396					A	87069091	G	A	87069091	2	1	54	1	0	0	0	0	0	0	0	1	43	1048	37	1		1	ABCB4	7	87069091	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		87069091	72069572	48	6624											
PTCD1	26024	broad.mit.edu	37	chr7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-													tcagagagggtcccaaaactCtcctcctcctcctcgtcttc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		8	606						8	606	---	---	---	---	-	99032607	CTC	-	99032605	7	5	54	1	0	1	0	1	0	0	0	0	12774	912	32	0	1869	0	PTCD1	7	99032605	In_Frame_Del	DEL	CTC	TCGA-FB-AAQ2-01A-31D-A40W-08	11963514	99032605	60106058	49	6625											
WNT2	7472	broad.mit.edu	37	chr7	116960785	116960785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacagctgccgctggctgCtcaccaggcctggcacatta	11	15	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:116960785C>A	ENST00000265441.3	-	2	445	c.146G>T	c.(145-147)aGc>aTc	p.S49I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	49					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCGCTGGCTGCTCACCAGGCC	0.592																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(145-147)aGc>aTc		wingless-type MMTV integration site family member 2							54	45	48					7																	116960785		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960785C>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.146G>T	7.37:g.116960785C>A	ENSP00000265441:p.Ser49Ile					AC002465.2_ENST00000436097.1_RNA	p.S49I	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	445	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		49					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.146G>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831442	0.71258	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76578	-1.03;-1.03	5.42	5.42	0.78866	.	0.040486	0.85682	D	0.000000	T	0.77691	0.4168	M	0.72894	2.215	0.44123	D	0.996904	P	0.44776	0.843	B	0.41917	0.37	T	0.79743	-0.1675	10	0.49607	T	0.09	.	14.2281	0.65873	0.0:0.851:0.149:0.0	.	49	P09544	WNT2_HUMAN	I	49	ENSP00000265441:S49I;ENSP00000419466:S49I	ENSP00000265441:S49I	S	-	2	0	WNT2	116748021	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.573000	0.23699	2.691000	0.91804	0.655000	0.94253	AGC		0.592	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		18	73	1	0	1.85244e-09	1	1.90319e-09	18	73					A	116960785	C	A	116960785	3	1	54	1	0	0	0	0	1	0	0	0	17440	797	28	3	952	3	WNT2	7	116960785	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	17928180	116960785	42177878	50	6626											
CUL1	8454	broad.mit.edu	37	chr7	148427298	148427298	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacgacctcagagccggcatCcagcaggtgtacacacggca	12	14	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:148427298C>A	ENST00000325222.4	+	2	363	c.84C>A	c.(82-84)atC>atA	p.I28I	CUL1_ENST00000409469.1_Silent_p.I28I|AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000602748.1_Silent_p.I28I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(82-84)atC>atA		cullin 1							103	90	94					7																	148427298		2203	4300	6503	SO:0001819	synonymous_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427298C>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.84C>A	7.37:g.148427298C>A						CUL1_ENST00000602748.1_Silent_p.I28I|CUL1_ENST00000409469.1_Silent_p.I28I	p.I28I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	363	+	Melanoma(164;0.15)		28					D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	c.84C>A	CCDS34772.1																																																																																				0.547	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		21	373	1	0	6.44725e-10	1	6.66957e-10	21	373					A	148427298	C	A	148427298	2	1	54	1	0	0	0	0	0	0	0	1	4065	845	30	3		3	CUL1	7	148427298	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	31466513	148427298	10711365	51	6627											
ARHGEF10	9639	broad.mit.edu	37	chr8	1857468	1857468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggtcgtttcagcccctctCatgacagccgtgtgatgagc	11	12	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:1857468C>T	ENST00000398564.1	+	18	2050	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.H683Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	684					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCCCCTCTCATGACAGCCG	0.502																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2047-2049)Cat>Tat		Rho guanine nucleotide exchange factor (GEF) 10							196	187	190					8																	1857468		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857468C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2050C>T	8.37:g.1857468C>T	ENSP00000381571:p.His684Tyr					ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H684Y	p.H683Y			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2210	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	684					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2047C>T		.	.	.	.	.	.	.	.	.	.	C	9.289	1.050147	0.19827	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	4.83	4.83	0.62350	.	1.318090	0.04904	N	0.451894	T	0.19127	0.0459	L	0.41961	1.31	0.58432	D	0.999998	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.002;0.002;0.005	T	0.08166	-1.0735	10	0.30854	T	0.27	-11.2687	10.5542	0.45107	0.0:0.9011:0.0:0.0989	.	684;621;659	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	Y	659;621;683;684;684;332	ENSP00000340297:H659Y;ENSP00000427909:H621Y;ENSP00000431012:H683Y;ENSP00000381571:H684Y;ENSP00000262112:H684Y;ENSP00000427768:H332Y	ENSP00000262112:H684Y	H	+	1	0	ARHGEF10	1844875	0.530000	0.26330	0.020000	0.16555	0.010000	0.07245	1.655000	0.37345	2.382000	0.81193	0.644000	0.83932	CAT		0.502	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				187	482	0	0	0	1	0	187	482					T	1857468	C	T	1857468	3	4	54	1	0	0	0	0	1	0	0	0	894	826	29	2	2041	2	ARHGEF10	8	1857468	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		1857468	144506554	52	6628											
RGS22	26166	broad.mit.edu	37	chr8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T													tcgtcttctaggactgccaaINStttttttttctgcttattat					rs7841915	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	412						7	412	---	---	---	---	T	100990178	-	T	100990177	7	5	54	1	0	1	1	0	0	0	0	0	13355	98	4	0	327	0	RGS22	8	100990177	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	99132709	100990177	45373845	53	6629											
KCNQ3	3786	broad.mit.edu	37	chr8	133150166	133150166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttatcctggaaagcatgtCgagatgcccggcagaatact	10	10	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:133150166C>T	ENST00000388996.4	-	12	2086	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N|KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	556					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAAGCATGTCGAGATGCCCG	0.453																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1666-1668)Gac>Aac		potassium voltage-gated channel, KQT-like subfamily, member 3							141	129	133					8																	133150166		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150166C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1666G>A	8.37:g.133150166C>T	ENSP00000373648:p.Asp556Asn					KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	p.D556N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2086	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		556					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1666G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507800	0.96386	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99758	-6.65;-6.65;-6.65	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98336	1.0536	10	0.87932	D	0	-28.2666	18.6955	0.91599	0.0:1.0:0.0:0.0	.	556;556	E7ET42;O43525	.;KCNQ3_HUMAN	N	556;436;556;545;435	ENSP00000373648:D556N;ENSP00000429799:D436N;ENSP00000428790:D556N	ENSP00000373648:D556N	D	-	1	0	KCNQ3	133219348	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	7.818000	0.86416	2.733000	0.93635	0.655000	0.94253	GAC		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		186	588	0	0	0	1	0	186	588					T	133150166	C	T	133150166	3	4	54	1	0	0	0	0	1	0	0	0	8114	884	31	1	968	1	KCNQ3	8	133150166	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	32159989	133150166	13213856	54	6630											
FOXD4	2298	broad.mit.edu	37	chr9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA													ctgctggctcgccgcctcctINScctcgtcttcatcttcctcc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gag>gTGGAAGACGAGGag	p.38_39insVEDE		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCTCCTCCTCGTCTTCA	0.668																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(115-117)gga>TGGAAGACGAGGgga		forkhead box D4																																				SO:0001652	inframe_insertion	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118004_118005insCCTCGTCTTCCA	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.115_116insTGGAAGACGAGG	9.37:g.118004_118005insCCTCGTCTTCCA	ENSP00000371940:p.Glu38_Glu39insValGluAspGlu						p.38_39insWKTR	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	412_413	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	38					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Ins	INS	ENST00000382500.2	37	c.115_116insTGGAAGACGAGG	CCDS34975.1																																																																																				0.668	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		13	366						13	366	---	---	---	---	CCTCGTCTTCCA	118005	-	CCTCGTCTTCCA	118004	7	5	54	1	0	1	1	0	0	0	0	0	6024	1551	54	0	1207	0	FOXD4	9	118004	In_Frame_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08		118004	141095427	55	6631											
CDKN2A	1029	broad.mit.edu	37	chr9	21974695	21974695	+	Frame_Shift_Del	DEL	G	G	-													acctggatcggcctccgaccGtaactattcggtgcgttggg							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:21974695delG	ENST00000304494.5	-	1	402	c.132delC	c.(130-132)tacfs	p.Y44fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.G45del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCG	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(3)|Deletion - In frame(2)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.G45del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(151)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI056876|CI075603|CM980323	CDKN2A	I|M		c.(130-132)tafs		cyclin-dependent kinase inhibitor 2A							56	66	63					9																	21974695		2203	4300	6503	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974695delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.132delC	9.37:g.21974695delG	ENSP00000307101:p.Tyr44fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Y44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron	p.Y44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	402	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.132delC	CCDS6510.1																																																																																				0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		156	379						156	379	---	---	---	---	-	21974695	G	-	21974695	7	5	54	1	0	1	0	1	0	0	0	0	3170	1140	40	0	551	0	CDKN2A	9	21974695	Frame_Shift_Del	DEL	G	TCGA-FB-AAQ2-01A-31D-A40W-08	21856691	21974695	119238736	56	6632											
ANXA1	301	broad.mit.edu	37	chr9	75775747	75775747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgatgaagatactctaaTtgagattttggcatcaagaa	8	5	2	5			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:75775747T>G	ENST00000376911.1	+	5	1295	c.413T>G	c.(412-414)aTt>aGt	p.I138S	ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S			P04083	ANXA1_HUMAN	annexin A1	138					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	GATACTCTAATTGAGATTTTG	0.358																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(412-414)aTt>aGt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						153	162	159					9																	75775747		2203	4299	6502	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775747T>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.413T>G	9.37:g.75775747T>G	ENSP00000366109:p.Ile138Ser					ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S	p.I138S			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	1295	+		all_epithelial(88;2.54e-11)	138						Missense_Mutation	SNP	ENST00000376911.1	37	c.413T>G	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754013	0.49362	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.06933	3.24;3.24;3.24	5.86	2.23	0.28157	Annexin repeat, conserved site (1);	0.189835	0.56097	D	0.000034	T	0.16342	0.0393	M	0.91459	3.21	0.58432	D	0.999997	B	0.22276	0.067	B	0.24006	0.05	T	0.01604	-1.1314	10	0.87932	D	0	.	8.3775	0.32451	0.1446:0.0724:0.0:0.7829	.	138	P04083	ANXA1_HUMAN	S	138;149;138	ENSP00000257497:I138S;ENSP00000412489:I149S;ENSP00000366109:I138S	ENSP00000257497:I138S	I	+	2	0	ANXA1	74965567	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	3.066000	0.50002	0.130000	0.18549	0.533000	0.62120	ATT		0.358	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		186	629	0	0	0	1	0	186	629					G	75775747	T	G	75775747	3	3	54	1	0	0	0	0	1	0	0	0	714	1493	52	4	431	4	ANXA1	9	75775747	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	53801052	75775747	65437684	57	6633											
OMD	4958	broad.mit.edu	37	chr9	95179346	95179346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaccaagaaggagtctTtccagagatttaggaagagg	12	5	1	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:95179346T>A	ENST00000375550.4	-	2	770	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	165					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|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)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAAGGAGTCTTTCCAGAGATT	0.353			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(493-495)gaA>gaT		osteomodulin							95	96	96					9																	95179346		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179346T>A	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.495A>T	9.37:g.95179346T>A	ENSP00000364700:p.Glu165Asp					CENPP_ENST00000375587.3_Intron	p.E165D	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	770	-			165					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.495A>T	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	t	16.29	3.081856	0.55861	.	.	ENSG00000127083	ENST00000375550	T	0.05258	3.47	5.41	4.27	0.50696	.	0.071747	0.53938	D	0.000044	T	0.06462	0.0166	L	0.60067	1.865	0.31296	N	0.688889	P	0.42692	0.787	B	0.33121	0.158	T	0.13255	-1.0516	10	0.56958	D	0.05	-20.6279	7.6328	0.28249	0.0:0.2438:0.0:0.7562	.	165	Q99983	OMD_HUMAN	D	165	ENSP00000364700:E165D	ENSP00000364700:E165D	E	-	3	2	OMD	94219167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.745000	0.26259	1.001000	0.39076	0.477000	0.44152	GAA		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		86	296	0	0	0	1	0	86	296					A	95179346	T	A	95179346	3	1	54	1	0	0	0	0	1	0	0	0	10907	1838	64	5	778	5	OMD	9	95179346	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	19403599	95179346	46034085	58	6634											
ALDOB	229	broad.mit.edu	37	chr9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagctgcaggaacagtacGgtggagagctgttacggtgg	16	7	0	1	rs201424676		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21426	0.0		0.0	False		,,,				2504	0.001					ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(775-777)Cgt>Tgt		aldolase B, fructose-bisphosphate							239	187	204					9																	104187759		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187759G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.775C>T	9.37:g.104187759G>A	ENSP00000363988:p.Arg259Cys						p.R259C	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			7	899	-		Acute lymphoblastic leukemia(62;0.0559)	259					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.775C>T	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543298	0.65198	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.89875	-2.58	6.06	4.2	0.49525	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.95203	0.8318	10	0.87932	D	0	-5.352	10.3726	0.44064	0.0695:0.0:0.792:0.1385	.	259	P05062	ALDOB_HUMAN	C	259;186;259	ENSP00000363988:R259C	ENSP00000363986:R186C	R	-	1	0	ALDOB	103227580	1.000000	0.71417	0.880000	0.34516	0.291000	0.27294	6.636000	0.74299	0.854000	0.35336	0.650000	0.86243	CGT		0.507	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			72	246	0	0	0	1	0	72	246					A	104187759	G	A	104187759	3	1	54	1	0	0	0	0	1	0	0	0	508	1116	39	1	331	1	ALDOB	9	104187759	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	9008413	104187759	37025672	59	6635											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130649855	130649855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagcctgtgctcaaccaCgaatgagacttctccctggg	9	14	2	1	rs368787289		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:130649855C>T	ENST00000373146.1	-	6	899	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000542456.1_Silent_p.S40S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	240					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCAACCACGAATGAGACT	0.597																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(718-720)tcG>tcA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6		C		0,4404		0,0,2202	167	93	118		720	-7.8	0.5	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC6	NM_013443.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		240/334	130649855	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130649855C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.720G>A	9.37:g.130649855C>T						ST6GALNAC6_ENST00000542456.1_Silent_p.S40S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S	p.S240S			Q969X2	SIA7F_HUMAN			6	899	-			240					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.720G>A	CCDS6882.1																																																																																				0.597	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		31	100	0	0	0	1	0	31	100					T	130649855	C	T	130649855	2	4	54	1	0	0	0	0	0	0	0	1	15280	523	19	1		1	ST6GALNAC6	9	130649855	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	26462096	130649855	10563576	60	6636											
GATA3	2625	broad.mit.edu	37	chr10	8100325	8100325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccctggctggacggcgGcaaagccctgggcagccacc	13	17	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:8100325G>A	ENST00000346208.3	+	3	754	c.299G>A	c.(298-300)gGc>gAc	p.G100D	GATA3_ENST00000379328.3_Missense_Mutation_p.G100D			P23771	GATA3_HUMAN	GATA binding protein 3	100					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGACGGCGGCAAAGCCCTG	0.677			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																															ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(298-300)gGc>gAc		GATA binding protein 3							53	65	61					10																	8100325		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100325G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.299G>A	10.37:g.8100325G>A	ENSP00000341619:p.Gly100Asp					GATA3_ENST00000346208.3_Missense_Mutation_p.G100D	p.G100D	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	867	+			100					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.299G>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231371	0.39399	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96365	-3.99;-3.98	5.31	5.31	0.75309	.	0.194098	0.53938	D	0.000041	D	0.95242	0.8457	L	0.50333	1.59	0.45205	D	0.998212	B;B	0.29136	0.191;0.234	B;B	0.33750	0.062;0.169	D	0.93958	0.7238	10	0.59425	D	0.04	-24.0814	18.9617	0.92679	0.0:0.0:1.0:0.0	.	100;100	P23771;P23771-2	GATA3_HUMAN;.	D	100	ENSP00000368632:G100D;ENSP00000341619:G100D	ENSP00000341619:G100D	G	+	2	0	GATA3	8140331	1.000000	0.71417	0.935000	0.37517	0.204000	0.24138	7.816000	0.86201	2.469000	0.83416	0.561000	0.74099	GGC		0.677	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		5	440	0	0	0	1	0	5	440					A	8100325	G	A	8100325	3	1	54	1	0	0	0	0	1	0	0	0	6283	1203	42	2	305	2	GATA3	10	8100325	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		8100325	127434422	61	6637											
GPRIN2	9721	broad.mit.edu	37	chr10	46999606	46999607	+	Frame_Shift_Ins	INS	-	-	GA													gtggcatgagggaggtgaggINSgctggtggctgctgccatgc					rs370294797|rs374420863		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:46999606_46999607insGA	ENST00000374317.1	+	3	999_1000	c.726_727insGA	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Ins_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGAGGTGAGGGCTGGTGGCTG	0.634																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(724-729)agctggfs		G protein regulated inducer of neurite outgrowth 2																																				SO:0001589	frameshift_variant	9721							g.chr10:46999606_46999607insGA	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	Exception_encountered	10.37:g.46999606_46999607insGA	ENSP00000363436:p.Ala243fs					GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs	p.SW242fs			O60269	GRIN2_HUMAN			1	1681_1682	+			242	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672).	R -> G (in dbSNP:rs3127683).			Q5SVF0	Frame_Shift_Ins	INS	ENST00000374317.1	37	c.726_727insGA	CCDS31192.1																																																																																				0.634	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		8	487						8	487	---	---	---	---	GA	46999607	-	GA	46999606	7	5	54	1	0	1	1	0	0	0	0	0	6760	1223	43	0	728	0	GPRIN2	10	46999606	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	38899281	46999606	88535141	62	6638											
PSTK	118672	broad.mit.edu	37	chr10	124746879	124746879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccttctcagagatgacaTttaagcaaagatgggtaaga	10	6	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:124746879T>C	ENST00000368887.3	+	6	1347	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	303					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		agagatgacatttaagcaaag	0.423																																						ENST00000368887.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13						c.(907-909)Ttt>Ctt		phosphoseryl-tRNA kinase							98	91	93					10																	124746879		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124746879T>C	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.907T>C	10.37:g.124746879T>C	ENSP00000357882:p.Phe303Leu					PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	p.F303L	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	6	1347	+		all_neural(114;0.169)|Glioma(114;0.222)	303					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.907T>C	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	T	5.062	0.197044	0.09599	.	.	ENSG00000179988	ENST00000368887	T	0.49432	0.78	2.11	2.11	0.27256	.	0.974060	0.08343	N	0.960511	T	0.11879	0.0289	N	0.00179	-1.91	0.20638	N	0.999873	B	0.06786	0.001	B	0.10450	0.005	T	0.32375	-0.9909	10	0.07030	T	0.85	.	6.2226	0.20689	0.0:0.0:0.0:1.0	.	303	Q8IV42	PSTK_HUMAN	L	303	ENSP00000357882:F303L	ENSP00000357882:F303L	F	+	1	0	PSTK	124736869	0.000000	0.05858	0.087000	0.20705	0.903000	0.53119	0.284000	0.18864	1.227000	0.43598	0.533000	0.62120	TTT		0.423	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		4	134	0	0	0	1	0	4	134					C	124746879	T	C	124746879	3	2	54	1	0	0	0	0	1	0	0	0	12767	1493	52	4	929	4	PSTK	10	124746879	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	77747273	124746879	10787868	63	6639											
MICALCL	84953	broad.mit.edu	37	chr11	12315169	12315170	+	Frame_Shift_Ins	INS	-	-	C													ccaagtcctcccaccccaaaINSctttcggaggcgagccgtag							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:12315169_12315170insC	ENST00000256186.2	+	3	482_483	c.191_192insC	c.(190-195)aactttfs	p.F65fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	65	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCACCCCAAACTTTCGGAGGC	0.535																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(190-192)attfs		MICAL C-terminal like																																				SO:0001589	frameshift_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315169_12315170insC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.192dupC	11.37:g.12315170_12315170dupC	ENSP00000256186:p.Phe65fs						p.I64fs	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	482_483	+			64			Interaction with MAPK1 (By similarity).		Q7RTP7|Q96JU6	Frame_Shift_Ins	INS	ENST00000256186.2	37	c.191_192insC	CCDS41620.1																																																																																				0.535	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		10	977						10	977	---	---	---	---	C	12315170	-	C	12315169	7	5	54	1	0	1	1	0	0	0	0	0	9613	43	2	0	197	0	MICALCL	11	12315169	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08		12315169	122691347	64	6640											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		7	1182	0	0	0	1	0	7	1182					T	71249545	C	T	71249545	2	4	54	1	0	0	0	0	0	0	0	1	8598	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	58934376	71249545	63756971	65	6641											
SYTL2	54843	broad.mit.edu	37	chr11	85437269	85437269	+	Intron	DEL	T	T	-													atttcctctcttgccataacTttttttgggcttagaagcac							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:85437269delT	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.K601fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCCATAACTTTTTTTGGGC	0.373																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1801-1803)aafs		synaptotagmin-like 2							185	180	182					11																	85437269		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85437269delT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1669A>-	11.37:g.85437269delT						SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron	p.K601fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	1802	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	113			Ser-rich.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	ENST00000528231.1	37	c.1803delA	CCDS53688.1																																																																																				0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		7	631						7	631	---	---	---	---	-	85437269	T	-	85437269	6	5	54	0	1	1	0	1	0	0	0	0	15535	1606	56	0		0	SYTL2	11	85437269	Intron	DEL	T	TCGA-FB-AAQ2-01A-31D-A40W-08	14187724	85437269	49569247	66	6642											
RAB39	54734	broad.mit.edu	37	chr11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtatttgacattactaacCgacgatcttttgaacatgtg	7	7	1	2	rs201681603		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CATTACTAACCGACGATCTTT	0.348																																						ENST00000320578.2																			0											c.(292-294)Cga>Tga		RAB39A, member RAS oncogene family							71	69	70					11																	107832736		2201	4298	6499	SO:0001587	stop_gained	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832736C>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"RAB, member RAS oncogene"	16521	protein-coding gene	gene with protein product	"rab-related GTP-binding protein"		"RAB39, member RAS oncogene family"	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.292C>T	11.37:g.107832736C>T	ENSP00000322594:p.Arg98*						p.R98*	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	358	+			98					A8KAA4|Q8N6W2	Nonsense_Mutation	SNP	ENST00000320578.2	37	c.292C>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627261	0.87560	.	.	ENSG00000179331	ENST00000320578	.	.	.	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.863	0.79040	0.1366:0.8634:0.0:0.0	.	.	.	.	X	98	.	ENSP00000322594:R98X	R	+	1	2	RAB39	107337946	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.526000	0.67116	1.512000	0.48834	-0.133000	0.14855	CGA		0.348	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		15	301	0	0	0	1	0	15	301					T	107832736	C	T	107832736	4	4	54	1	0	0	0	0	0	1	0	0	12979	644	23	1	298	1	RAB39	11	107832736	Nonsense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	22395467	107832736	27173780	67	6643											
ZC3H12C	85463	broad.mit.edu	37	chr11	110007605	110007605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaggatgaaaaagaggCgtctgaagagaatgcaagct	16	4	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:110007605C>T	ENST00000278590.3	+	2	290	c.239C>T	c.(238-240)gCg>gTg	p.A80V	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A49V|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	80							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.A80V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAGAGGCGTCTGAAGAG	0.448																																						ENST00000453089.2																			1	Substitution - Missense(1)	p.A80V(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(145-147)gCg>gTg		zinc finger CCCH-type containing 12C							61	58	59					11																	110007605		1946	4152	6098	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110007605C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.239C>T	11.37:g.110007605C>T	ENSP00000278590:p.Ala80Val					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A80V	p.A49V			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	1	1027	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	80					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.146C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	t	8.666	0.901758	0.17760	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.30981	1.51;1.51;1.51	5.62	5.62	0.85841	.	.	.	.	.	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31530	-0.9940	9	0.11182	T	0.66	-1.0609	6.3914	0.21589	0.0:0.2884:0.0:0.7116	.	81;80;80	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	V	80;81;49	ENSP00000278590:A80V;ENSP00000431821:A81V;ENSP00000413094:A49V	ENSP00000278590:A80V	A	+	2	0	ZC3H12C	109512815	0.021000	0.18746	1.000000	0.80357	0.098000	0.18820	0.260000	0.18424	0.966000	0.38159	-0.269000	0.10298	GCG		0.448	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		27	110	0	0	0	1	0	27	110					T	110007605	C	T	110007605	3	4	54	1	0	0	0	0	1	0	0	0	17616	768	27	1	245	1	ZC3H12C	11	110007605	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	2174869	110007605	24998911	68	6644											
OR8B2	26595	broad.mit.edu	37	chr11	124253123	124253123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagccaaggttgcctacCatggtgacaatgtagatcac	9	10	2	2	rs202110730	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:124253123C>T	ENST00000375013.2	-	1	135	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTTGCCTACCATGGTGACAA	0.418																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(115-117)atG>atA		olfactory receptor, family 8, subfamily B, member 2		C	ILE/MET	0,4402		0,0,2201	216	188	198		117	1.2	0	11		198	3,8595	3.0+/-9.4	0,3,4296	no	missense	OR8B2	NM_001005468.1	10	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	benign	39/314	124253123	3,12997	2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253123C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.117G>A	11.37:g.124253123C>T	ENSP00000364152:p.Met39Ile						p.M39I	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	135	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	39					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.117G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512128	0.27036	0.0	3.49E-4	ENSG00000204293	ENST00000375013	T	0.00524	6.82	4.2	1.17	0.20885	.	0.871881	0.10283	N	0.693231	T	0.00210	0.0006	N	0.01405	-0.89	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42965	-0.9420	10	0.54805	T	0.06	.	1.6651	0.02800	0.1587:0.3523:0.3088:0.1803	.	39	Q96RD0	OR8B2_HUMAN	I	39	ENSP00000364152:M39I	ENSP00000364152:M39I	M	-	3	0	OR8B2	123758333	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	-0.293000	0.08320	0.151000	0.19162	0.400000	0.26472	ATG		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		36	730	0	0	0	1	0	36	730					T	124253123	C	T	124253123	3	4	54	1	0	0	0	0	1	0	0	0	11269	594	21	2	827	2	OR8B2	11	124253123	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	14245518	124253123	10753393	69	6645											
LEPREL2	10536	broad.mit.edu	37	chr12	6939687	6939687	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaggaggatggggctgcGagccaggggggcctctatga	20	7	1	2	rs536565960		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:6939687G>A	ENST00000538102.1	+	0	40				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGGGCTGCGAGCCAGGGGG	0.642																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							11	12	12					12																	6939687		1960	4121	6081			10536							g.chr12:6939687G>A	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6939687G>A						LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	855	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37																																																																																						0.642	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		6	54	0	0	0	1	0	6	54					A	6939687	G	A	6939687	1	1	54	0	1	0	0	0	0	0	0	0	8762	1045	37	1		1	LEPREL2	12	6939687	RNA	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		6939687	126912208	70	6646											
C1RL	51279	broad.mit.edu	37	chr12	7249506	7249506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacggtggacagggtggttCcccagtttcagcatctcatc	11	12	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:7249506C>T	ENST00000266542.4	-	6	1037	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	315	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGGTGGTTCCCCAGTTTCA	0.552																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(943-945)ggG>ggA		complement component 1, r subcomponent-like							219	164	182					12																	7249506		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249506C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.945G>A	12.37:g.7249506C>T						C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	p.G315G	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1037	-			315			Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.945G>A	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124736	0.06795	.	.	ENSG00000139178	ENST00000534950	.	.	.	4.98	-9.95	0.00446	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.46185	D	0.998912	.	.	.	.	.	.	T	0.49835	-0.8897	4	.	.	.	.	5.2161	0.15344	0.0767:0.1221:0.3579:0.4432	.	.	.	.	K	148	.	.	E	-	1	0	C1RL	7140648	0.000000	0.05858	0.000000	0.03702	0.641000	0.38312	-2.582000	0.00905	-2.698000	0.00400	-0.350000	0.07774	GAA		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		9	458	0	0	0	1	0	9	458					T	7249506	C	T	7249506	2	4	54	1	0	0	0	0	0	0	0	1	1980	842	30	2		2	C1RL	12	7249506	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	309819	7249506	126602389	71	6647											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		62	145	0	0	0	1	0	62	145					T	25398284	C	T	25398284	3	4	54	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	18148778	25398284	108453611	72	6648											
LRP1	4035	broad.mit.edu	37	chr12	57569722	57569723	+	Frame_Shift_Ins	INS	-	-	C													ccgttcatcattttctccaaINSccgccatgaaatccggcgca							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:57569722_57569723insC	ENST00000243077.3	+	24	4290_4291	c.3824_3825insC	c.(3823-3828)aaccgcfs	p.R1276fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1276					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTTTCTCCAACCGCCATGAAA	0.609											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3823-3825)acgfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57569722_57569723insC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3826dupC	12.37:g.57569724_57569724dupC	ENSP00000243077:p.Arg1276fs		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.T1275fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	24	4290_4291	+			1275					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.3824_3825insC	CCDS8932.1																																																																																				0.609	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	820						7	820	---	---	---	---	C	57569723	-	C	57569722	7	5	54	1	0	1	1	0	0	0	0	0	8989	43	2	0	3918	0	LRP1	12	57569722	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	32171438	57569722	76282173	73	6649											
ACSS3	79611	broad.mit.edu	37	chr12	81647110	81647110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcccatggtaccgtgGcagactgtgctgttgttggc	12	11	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:81647110G>A	ENST00000548058.1	+	14	2654	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T|ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	582						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTACCGTGGCAGACTGTGC	0.373																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1744-1746)Gca>Aca		acyl-CoA synthetase short-chain family member 3							232	225	227					12																	81647110		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647110G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1744G>A	12.37:g.81647110G>A	ENSP00000449535:p.Ala582Thr					ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T|ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T	p.A582T			Q9H6R3	ACSS3_HUMAN			14	2654	+			582					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1744G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395361	0.62066	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.62105	0.05;0.05;0.05	6.0	4.17	0.49024	AMP-dependent synthetase/ligase (1);	0.383935	0.28809	N	0.014067	T	0.63522	0.2518	M	0.81179	2.53	0.37366	D	0.911421	B;B	0.32526	0.374;0.0	B;B	0.29267	0.1;0.003	T	0.69614	-0.5098	10	0.72032	D	0.01	-0.5583	13.4013	0.60885	0.1288:0.0:0.8712:0.0	.	264;582	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	T	582;581;264	ENSP00000449535:A582T;ENSP00000261206:A581T;ENSP00000448965:A264T	ENSP00000261206:A581T	A	+	1	0	ACSS3	80171241	1.000000	0.71417	0.279000	0.24732	0.981000	0.71138	5.191000	0.65110	0.869000	0.35703	-0.261000	0.10672	GCA		0.373	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		138	527	0	0	0	1	0	138	527					A	81647110	G	A	81647110	3	1	54	1	0	0	0	0	1	0	0	0	190	1203	42	2	1798	2	ACSS3	12	81647110	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	24077388	81647110	52204785	74	6650											
SPERT	220082	broad.mit.edu	37	chr13	46287859	46287859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtgaagaaggaccaCgtcgccctgcaggtgccccg	16	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:46287859C>T	ENST00000310521.1	+	3	779	c.699C>T	c.(697-699)caC>caT	p.H233H	SPERT_ENST00000378966.3_Silent_p.H197H	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	233						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAAGGACCACGTCGCCCTGC	0.682																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(589-591)caC>caT		spermatid associated							38	35	36					13																	46287859		2202	4298	6500	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287859C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.699C>T	13.37:g.46287859C>T						SPERT_ENST00000310521.1_Silent_p.H233H	p.H197H			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	1007	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	233					A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.591C>T	CCDS9399.1																																																																																				0.682	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		29	141	0	0	0	1	0	29	141					T	46287859	C	T	46287859	2	4	54	1	0	0	0	0	0	0	0	1	15091	535	19	1		1	SPERT	13	46287859	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		46287859	68882019	75	6651											
IPO5	3843	broad.mit.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	11	7	1	3	rs566255473		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95	92	93					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val					IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR	p.A563V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		5	535	0	0	0	1	0	5	535					T	98658520	C	T	98658520	3	4	54	1	0	0	0	0	1	0	0	0	7826	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	52370661	98658520	16511358	76	6652											
DLGAP5	9787	broad.mit.edu	37	chr14	55646352	55646353	+	Frame_Shift_Ins	INS	-	-	G													tgtttattctctaccttgtcINSgggttttgtttctacatttt					rs368885720		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:55646352_55646353insG	ENST00000247191.2	-	7	984_985	c.768_769insC	c.(766-771)cccgacfs	p.D257fs	DLGAP5_ENST00000395425.2_Frame_Shift_Ins_p.D257fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	257					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.D257Y(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTACCTTGTCGGGTTTTGTTT	0.302																																						ENST00000247191.2																			1	Substitution - Missense(1)	p.D257Y(1)	large_intestine(1)	biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(766-771)ccacaafs		discs, large (Drosophila) homolog-associated protein 5			,	6,4256		0,6,2125					,	4.4	1			114	9,8245		0,9,4118	no	frameshift,frameshift	DLGAP5	NM_014750.4,NM_001146015.1	,	0,15,6243	A1A1,A1R,RR		0.109,0.1408,0.1198	,	,		15,12501				SO:0001589	frameshift_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55646352_55646353insG	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.769dupC	14.37:g.55646355_55646355dupG	ENSP00000247191:p.Asp257fs					DLGAP5_ENST00000395425.2_Frame_Shift_Ins_p.Q257fs	p.Q257fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			7	984_985	-			257					A8MTM6|B4DRM8|Q86T11|Q8NG58	Frame_Shift_Ins	INS	ENST00000247191.2	37	c.768_769insC	CCDS9723.1																																																																																				0.302	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		7	197						7	197	---	---	---	---	G	55646353	-	G	55646352	7	5	54	1	0	1	1	0	0	0	0	0	4579	884	31	0	1918	0	DLGAP5	14	55646352	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08		55646352	51703188	77	6653											
ZFYVE26	23503	broad.mit.edu	37	chr14	68233050	68233050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcagcccggcatccacctCtgggttggtgaggcccttgg	15	13	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:68233050C>T	ENST00000347230.4	-	32	6043	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1969					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCATCCACCTCTGGGTTGGTG	0.577																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5905-5907)Gag>Aag		zinc finger, FYVE domain containing 26							77	78	77					14																	68233050		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68233050C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5905G>A	14.37:g.68233050C>T	ENSP00000251119:p.Glu1969Lys					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	32	6043	-			1969					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5905G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573986	0.96553	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34667	1.5;1.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.66654	-0.5869	10	0.72032	D	0.01	-18.437	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1969;1969	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	1969;1948;1969	ENSP00000251119:E1969K;ENSP00000450603:E1969K	ENSP00000251119:E1969K	E	-	1	0	ZFYVE26	67302803	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.771000	0.85420	2.704000	0.92352	0.555000	0.69702	GAG		0.577	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		113	378	0	0	0	1	0	113	378					T	68233050	C	T	68233050	3	4	54	1	0	0	0	0	1	0	0	0	17721	922	32	2	1758	2	ZFYVE26	14	68233050	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	12586698	68233050	39116490	78	6654											
PLA2G4D	283748	broad.mit.edu	37	chr15	42362977	42362977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcctgcggcctggccGgaacatggagggagagctgg	18	11	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:42362977G>A	ENST00000290472.3	-	18	2075	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	661	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGCCTGGCCGGAACATGGAG	0.657																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1981-1983)Cgg>Tgg		phospholipase A2, group IVD (cytosolic)							72	66	68					15																	42362977		2201	4298	6499	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42362977G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1981C>T	15.37:g.42362977G>A	ENSP00000290472:p.Arg661Trp						p.R661W	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	18	2075	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	661			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1981C>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711719	0.48517	.	.	ENSG00000159337	ENST00000290472	T	0.16073	2.37	4.46	3.54	0.40534	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.216636	0.29884	N	0.010944	T	0.25680	0.0625	M	0.89715	3.055	0.42428	D	0.992664	B	0.17268	0.021	B	0.06405	0.002	T	0.14008	-1.0488	10	0.66056	D	0.02	-11.7079	7.7234	0.28746	0.0883:0.0:0.7119:0.1998	.	661	Q86XP0	PA24D_HUMAN	W	661	ENSP00000290472:R661W	ENSP00000290472:R661W	R	-	1	2	PLA2G4D	40150269	0.961000	0.32948	0.990000	0.47175	0.986000	0.74619	0.984000	0.29565	1.224000	0.43551	0.573000	0.79308	CGG		0.657	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		15	30	0	0	0	1	0	15	30					A	42362977	G	A	42362977	3	1	54	1	0	0	0	0	1	0	0	0	12046	1115	39	1	487	1	PLA2G4D	15	42362977	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		42362977	60168415	79	6655											
UBL7	84993	broad.mit.edu	37	chr15	74743165	74743165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaagcatattgggatcagCgaagacagagaagaggtcct	12	7	2	3	rs199841006		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:74743165C>A	ENST00000567435.1	-	6	971	c.508G>T	c.(508-510)Gct>Tct	p.A170S	UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000564488.1_Missense_Mutation_p.A170S			Q96S82	UBL7_HUMAN	ubiquitin-like 7	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTGGGATCAGCGAAGACAGAG	0.502																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(508-510)Gct>Tct		ubiquitin-like 7 (bone marrow stromal cell-derived)							130	110	117					15																	74743165		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74743165C>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.508G>T	15.37:g.74743165C>A	ENSP00000457703:p.Ala170Ser					UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000564488.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S	p.A170S			Q96S82	UBL7_HUMAN			6	971	-			170					D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.508G>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864125	0.51482	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	.	0.169066	0.53938	D	0.000049	T	0.25754	0.0627	L	0.29908	0.895	0.42144	D	0.991528	P;P	0.44429	0.835;0.495	B;B	0.34824	0.19;0.145	T	0.07328	-1.0778	10	0.12103	T	0.63	-23.3972	12.6718	0.56872	0.0:0.9246:0.0:0.0754	.	210;170	D3DW56;Q96S82	.;UBL7_HUMAN	S	170	ENSP00000354883:A170S;ENSP00000378518:A170S	ENSP00000354883:A170S	A	-	1	0	UBL7	72530218	0.998000	0.40836	0.958000	0.39756	0.987000	0.75469	3.364000	0.52328	2.568000	0.86640	0.655000	0.94253	GCT		0.502	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		14	347	1	0	9.16793e-09	1	9.35503e-09	14	347					A	74743165	C	A	74743165	3	1	54	1	0	0	0	0	1	0	0	0	16944	768	27	3	658	3	UBL7	15	74743165	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	32380188	74743165	27788227	80	6656											
RASGRF1	5923	broad.mit.edu	37	chr15	79350772	79350772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccacgatctgcagcagGtgcaggtatttctgcattaa	10	10	3	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:79350772G>T	ENST00000419573.3	-	3	709	c.435C>A	c.(433-435)caC>caA	p.H145Q	RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	145					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGCAGCAGGTGCAGGTATT	0.562																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(433-435)caC>caA		Ras protein-specific guanine nucleotide-releasing factor 1							133	108	116					15																	79350772		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79350772G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.435C>A	15.37:g.79350772G>T	ENSP00000405963:p.His145Gln					RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q|RASGRF1_ENST00000560334.1_5'UTR	p.H145Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			3	709	-			145					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.435C>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578942	0.65878	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.40756	1.02	4.59	3.65	0.41850	.	0.060814	0.64402	D	0.000003	T	0.56514	0.1990	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73708	0.958;0.958;0.958;0.981	T	0.58907	-0.7553	10	0.87932	D	0	.	7.329	0.26571	0.1963:0.0:0.8037:0.0	.	145;145;145;145	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	145	ENSP00000405963:H145Q	ENSP00000378224:H145Q	H	-	3	2	RASGRF1	77137827	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.502000	0.53332	2.366000	0.80165	0.542000	0.68232	CAC		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		37	257	1	0	8.73648e-17	1	9.16414e-17	37	257					T	79350772	G	T	79350772	3	4	54	1	0	0	0	0	1	0	0	0	13122	1252	44	3	3490	3	RASGRF1	15	79350772	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	4607607	79350772	23180620	81	6657											
FAM169B	283777	broad.mit.edu	37	chr15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcaggtagcatgcacCggtgccatcaccacacagtc	11	14	1	0	rs557283476	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592													C|||	9	0.00179712	0.0	0.0	5008	,	,		20208	0.0		0.0	False		,,,				2504	0.0092					ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(208-210)Ggt>Agt		family with sequence similarity 169, member B							68	76	73					15																	98995216		2100	4230	6330	SO:0001583	missense	283777							g.chr15:98995216C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.208G>A	15.37:g.98995216C>T	ENSP00000453554:p.Gly70Ser					FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	457	-			70					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.208G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300196	0.05532	.	.	ENSG00000185087	ENST00000332908	T	0.12039	2.72	4.53	1.29	0.21616	.	0.284924	0.33980	N	0.004373	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	P	0.40638	0.725	B	0.31290	0.127	T	0.33497	-0.9866	10	0.12766	T	0.61	-2.8104	4.1212	0.10106	0.1846:0.5603:0.0:0.2552	.	70	Q8N8A8	F169B_HUMAN	S	70	ENSP00000332615:G70S	ENSP00000332615:G70S	G	-	1	0	FAM169B	96812739	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.072000	0.14617	0.515000	0.28320	0.650000	0.86243	GGT		0.592	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		38	119	0	0	0	1	0	38	119					T	98995216	C	T	98995216	3	4	54	1	0	0	0	0	1	0	0	0	5509	652	23	1	382	1	FAM169B	15	98995216	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	19644444	98995216	3536176	82	6658											
WDR90	197335	broad.mit.edu	37	chr16	701015	701015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctggggcccagtggGcaaagctgcccgtgactcct	12	15	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:701015G>A	ENST00000293879.4	+	6	580	c.580G>A	c.(580-582)Gca>Aca	p.A194T	WDR90_ENST00000549091.1_Missense_Mutation_p.A194T|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	194										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCAGTGGGCAAAGCTGCC	0.607																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(580-582)Gca>Aca		WD repeat domain 90							80	88	85					16																	701015		2163	4274	6437	SO:0001583	missense	197335							g.chr16:701015G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.580G>A	16.37:g.701015G>A	ENSP00000293879:p.Ala194Thr					WDR90_ENST00000293879.4_Missense_Mutation_p.A194T	p.A194T	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			6	672	+		Hepatocellular(780;0.0218)	194					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.580G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708198	0.30322	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.29917	1.59;1.55	4.95	0.105	0.14535	.	0.781301	0.10905	U	0.621191	T	0.20820	0.0501	L	0.41415	1.275	0.09310	N	1	B;B;B	0.23377	0.018;0.001;0.084	B;B;B	0.18561	0.008;0.007;0.022	T	0.24225	-1.0166	10	0.51188	T	0.08	.	3.5213	0.07743	0.163:0.1287:0.5759:0.1324	.	194;194;194	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	T	194	ENSP00000448122:A194T;ENSP00000293879:A194T	ENSP00000293879:A194T	A	+	1	0	WDR90	641016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.073000	0.14640	-0.197000	0.10350	-1.020000	0.02445	GCA		0.607	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		6	489	0	0	0	1	0	6	489					A	701015	G	A	701015	3	1	54	1	0	0	0	0	1	0	0	0	17391	1203	42	2	602	2	WDR90	16	701015	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		701015	89653738	83	6659											
IL4R	3566	broad.mit.edu	37	chr16	27367137	27367166	+	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-													tcccacttccagcctacaggGagcccttcgagcagcacctc					rs529668380		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENST00000395762.2	+	8	938_967	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	c.(679-708)gagcccttcgagcagcacctcctgctgggcdel	p.EPFEQHLLLG227del	IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	227					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTT	0.622																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(679-708)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	16.37:g.27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENSP00000379111:p.Glu227_Gly236del					IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del|IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del	p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	938_967	+			227					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	CCDS10629.1																																																																																				0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			19	270						19	270	---	---	---	---	-	27367166	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-	27367137	7	5	54	1	0	1	0	1	0	0	0	0	7728	1175	41	0	719	0	IL4R	16	27367137	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	TCGA-FB-AAQ2-01A-31D-A40W-08	26666122	27367137	62987616	84	6660											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		7	3099						7	3099	---	---	---	---	-	28734581	GAG	-	28734579	7	5	54	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ2-01A-31D-A40W-08	1367442	28734579	61620174	85	6661											
IRX6	79190	broad.mit.edu	37	chr16	55362807	55362807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagagggccgattggagcGcagggagtgcggcctggctg	20	9	0	1	rs377555554		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:55362807G>A	ENST00000290552.7	+	5	2249	c.917G>A	c.(916-918)cGc>cAc	p.R306H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATTGGAGCGCAGGGAGTGC	0.662																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(916-918)cGc>cAc		iroquois homeobox 6							46	50	48					16																	55362807		2196	4297	6493	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362807G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.917G>A	16.37:g.55362807G>A	ENSP00000290552:p.Arg306His					RP11-26L20.3_ENST00000558730.2_RNA	p.R306H	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2249	+			306					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.917G>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704584	0.68615	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.27	4.11	0.48088	.	0.618078	0.16748	N	0.201144	T	0.80407	0.4617	N	0.24115	0.695	0.09310	N	0.999997	D	0.56287	0.975	B	0.42062	0.374	T	0.72600	-0.4244	10	0.40728	T	0.16	-15.6593	9.6842	0.40089	0.111:0.0:0.889:0.0	.	306	P78412	IRX6_HUMAN	H	306	ENSP00000290552:R306H	ENSP00000290552:R306H	R	+	2	0	IRX6	53920308	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	0.202000	0.17295	2.463000	0.83235	0.462000	0.41574	CGC		0.662	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		75	269	0	0	0	1	0	75	269					A	55362807	G	A	55362807	3	1	54	1	0	0	0	0	1	0	0	0	7878	1087	38	1	935	1	IRX6	16	55362807	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	26628228	55362807	34991946	86	6662											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	10	16	1	0	rs17849781		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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)	ENST00000420246.2		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"		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(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	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)Cct>Tct	Other conserved DNA damage response genes	tumor protein p53							72	62	65					17																	7577106		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577106G>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.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S	p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	74	0	0	0	1	0	41	74					A	7577106	G	A	7577106	3	1	54	1	0	0	0	0	1	0	0	0	16434	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		7577106	73618104	87	6663											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389124	39389124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagagctgtggctccaActgctgccagccctgctgcc	10	16	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:39389124A>G	ENST00000411528.2	+	1	410	c.371A>G	c.(370-372)aAc>aGc	p.N124S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	124	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGGCTCCAACTGCTGCCAG	0.597																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(370-372)aAc>aGc		keratin associated protein 9-3							112	135	127					17																	39389124		2103	4300	6403	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39389124A>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.371A>G	17.37:g.39389124A>G	ENSP00000392189:p.Asn124Ser						p.N124S	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	410	+		Breast(137;0.000496)	124			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.371A>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.908407	0.00508	.	.	ENSG00000204873	ENST00000411528	T	0.01192	5.2	2.63	-3.44	0.04796	.	.	.	.	.	T	0.00271	0.0008	N	0.00165	-1.945	0.09310	N	1	.	.	.	.	.	.	T	0.47636	-0.9102	7	0.02654	T	1	.	0.8637	0.01198	0.2555:0.3318:0.2452:0.1675	.	.	.	.	S	124	ENSP00000392189:N124S	ENSP00000392189:N124S	N	+	2	0	KRTAP9-3	36642650	0.777000	0.28628	0.088000	0.20740	0.075000	0.17131	-0.265000	0.08644	-0.352000	0.08237	-1.366000	0.01203	AAC		0.597	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			5	540	0	0	0	1	0	5	540					G	39389124	A	G	39389124	3	3	54	1	0	0	0	0	1	0	0	0	8605	43	2	4	373	4	KRTAP9-3	17	39389124	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	31812018	39389124	41806086	88	6664											
CCDC40	55036	broad.mit.edu	37	chr17	78039368	78039368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtgggcatgaagcacCgcgacgaggcgcacagggcg	18	12	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:78039368C>T	ENST00000397545.4	+	10	1552	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692																																						ENST00000397545.4																			2	Substitution - Missense(2)	p.R509G(2)	kidney(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1525-1527)Cgc>Tgc		coiled-coil domain containing 40							45	53	50					17																	78039368		2128	4238	6366	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78039368C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1525C>T	17.37:g.78039368C>T	ENSP00000380679:p.Arg509Cys					CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C	p.R509C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		10	1552	+	all_neural(118;0.167)		509					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1525C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560125	0.45590	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.85171	0.02;-1.95;0.17	5.14	5.14	0.70334	.	.	.	.	.	D	0.92639	0.7661	M	0.84846	2.72	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93632	0.6957	9	0.87932	D	0	-17.7899	14.2557	0.66051	0.1497:0.8503:0.0:0.0	.	509;292	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	C	509	ENSP00000364011:R509C;ENSP00000269318:R509C;ENSP00000380679:R509C	ENSP00000269318:R509C	R	+	1	0	CCDC40	75653963	0.993000	0.37304	0.038000	0.18304	0.025000	0.11179	3.700000	0.54786	2.390000	0.81377	0.655000	0.94253	CGC		0.692	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		24	345	0	0	0	1	0	24	345					T	78039368	C	T	78039368	3	4	54	1	0	0	0	0	1	0	0	0	2819	652	23	1	1563	1	CCDC40	17	78039368	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	38650244	78039368	3155842	89	6665											
C18orf1	753	broad.mit.edu	37	chr18	13621266	13621266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgggaggacgggctgcCgcaggtgagtaccctggccg	20	11	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:13621266C>T	ENST00000359446.5	+	4	800	c.332C>T	c.(331-333)cCg>cTg	p.P111L	LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P111L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P34L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P111L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	111					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GACGGGCTGCCGCAGGTGAGT	0.632																																						ENST00000361205.4																			0											c.(331-333)cCg>cTg		low density lipoprotein receptor class A domain containing 4							33	34	33					18																	13621266		2201	4295	6496	SO:0001583	missense	753							g.chr18:13621266C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.332C>T	18.37:g.13621266C>T	ENSP00000352420:p.Pro111Leu					LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P34L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P111L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P111L	p.P111L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					5	1000	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.332C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685198	0.47991	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26373	1.82;1.74	5.58	3.14	0.36123	.	0.056656	0.64402	D	0.000001	T	0.11452	0.0279	N	0.12182	0.205	0.45490	D	0.998456	B;P;B;P;B;P	0.39131	0.283;0.524;0.283;0.524;0.283;0.661	B;B;B;B;B;B	0.30401	0.057;0.115;0.057;0.115;0.023;0.079	T	0.11567	-1.0582	10	0.48119	T	0.1	10.5895	8.2551	0.31751	0.7156:0.1607:0.0:0.1237	.	53;53;74;74;111;111	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	111;111;74;74;53;53	ENSP00000354753:P111L;ENSP00000382741:P111L	ENSP00000352420:P74L	P	+	2	0	C18orf1	13611266	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.477000	0.53151	0.374000	0.24650	-0.274000	0.10170	CCG		0.632	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		50	188	0	0	0	1	0	50	188					T	13621266	C	T	13621266	3	4	54	1	0	0	0	0	1	0	0	0	1901	652	23	1	423	1	C18orf1	18	13621266	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		13621266	64455982	90	6666											
RNF152	220441	broad.mit.edu	37	chr18	59483165	59483165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaggaggaagaccaagaCgcaagccaccaagatgacag	13	11	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:59483165C>T	ENST00000312828.3	-	2	1631	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	178					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AAGACCAAGACGCAAGCCACC	0.592																																						ENST00000312828.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(532-534)Gtc>Atc		ring finger protein 152							133	120	125					18																	59483165		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483165C>T	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.532G>A	18.37:g.59483165C>T	ENSP00000316628:p.Val178Ile						p.V178I	NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN			2	1631	-		Colorectal(73;0.186)	178					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.532G>A	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338338	0.41398	.	.	ENSG00000176641	ENST00000312828	D	0.84146	-1.81	4.69	4.69	0.59074	.	0.069218	0.56097	D	0.000024	T	0.75817	0.3901	N	0.17082	0.46	0.47862	D	0.999534	B	0.20550	0.046	B	0.14023	0.01	T	0.70733	-0.4791	10	0.32370	T	0.25	-0.1111	17.8094	0.88611	0.0:1.0:0.0:0.0	.	178	Q8N8N0	RN152_HUMAN	I	178	ENSP00000316628:V178I	ENSP00000316628:V178I	V	-	1	0	RNF152	57634145	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.036000	0.64164	2.461000	0.83175	0.563000	0.77884	GTC		0.592	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		86	243	0	0	0	1	0	86	243					T	59483165	C	T	59483165	3	4	54	1	0	0	0	0	1	0	0	0	13503	536	19	1	83	1	RNF152	18	59483165	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	45861899	59483165	18594083	91	6667											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		13	524	0	0	0	1	0	13	524					C	20807460	T	C	20807460	3	2	54	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08		20807460	38321523	92	6668											
ZNF536	9745	broad.mit.edu	37	chr19	30935540	30935540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtgttcagccaggcGtggttcctcaagggtcacat	14	10	4	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	357					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)			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)					TCAGCCAGGCGTGGTTCCTCA	0.652																																						ENST00000355537.3																			0				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						c.(1069-1071)gcG>gcA		zinc finger protein 536							104	112	110					19																	30935540		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935540G>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.1071G>A	19.37:g.30935540G>A							p.A357A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1218	+	Esophageal squamous(110;0.0834)		357					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1071G>A	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		165	607	0	0	0	1	0	165	607					A	30935540	G	A	30935540	2	1	54	1	0	0	0	0	0	0	0	1	18027	1132	40	1		1	ZNF536	19	30935540	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	10128080	30935540	28193443	93	6669											
RYR1	6261	broad.mit.edu	37	chr19	39016037	39016037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtactctgtgcagacGtcactgatcgtggccacact	11	13	2	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:39016037G>A	ENST00000359596.3	+	71	10521	c.10521G>A	c.(10519-10521)acG>acA	p.T3507T	RYR1_ENST00000355481.4_Silent_p.T3502T|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Silent_p.T3507T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3507					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)			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)	CTGTGCAGACGTCACTGATCG	0.627																																						ENST00000355481.4																			0				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						c.(10504-10506)acG>acA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						120	116	117					19																	39016037		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:39016037G>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.10521G>A	19.37:g.39016037G>A						RYR1_ENST00000359596.3_Silent_p.T3507T|RYR1_ENST00000360985.3_Silent_p.T3507T	p.T3502T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		70	10637	+	all_cancers(60;7.91e-06)		3507					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10506G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			87	264	0	0	0	1	0	87	264					A	39016037	G	A	39016037	2	1	54	1	0	0	0	0	0	0	0	1	13818	1132	40	1		1	RYR1	19	39016037	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8080497	39016037	20112946	94	6670											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		6	719	0	0	0	1	0	6	719					T	42132119	C	T	42132119	3	4	54	1	0	0	0	0	1	0	0	0	3203	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	3116082	42132119	16996864	95	6671											
TEX101	83639	broad.mit.edu	37	chr19	43922079	43922079	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacctgtgtggctttgggGacctgtttcagtgctccttc	11	12	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						ENST00000602198.1																			1	Substitution - coding silent(1)	p.G165G(1)	lung(1)	large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(493-495)ggG>ggT		testis expressed 101							327	268	288					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T						TEX101_ENST00000598265.1_Silent_p.G147G|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR	p.G165G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			7	937	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.495G>T	CCDS59393.1																																																																																				0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		7	660	1	0	0.27861	1	0.27861	7	660					T	43922079	G	T	43922079	2	4	54	1	0	0	0	0	0	0	0	1	15825	1161	41	3		3	TEX101	19	43922079	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	1789960	43922079	15206904	96	6672											
PRKD2	25865	broad.mit.edu	37	chr19	47193872	47193872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacctgcagaatggccacTtcattccggagctggctctc	10	13	2	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:47193872T>C	ENST00000291281.4	-	13	2019	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	PRKD2_ENST00000595515.1_Silent_p.E598E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000433867.1_Silent_p.E598E|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAATGGCCACTTCATTCCGGA	0.577																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1792-1794)gaA>gaG		protein kinase D2							115	102	106					19																	47193872		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47193872T>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1794A>G	19.37:g.47193872T>C						PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000595515.1_Silent_p.E598E|PRKD2_ENST00000291281.4_Silent_p.E598E	p.E598E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	14	2271	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	598			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1794A>G	CCDS12689.1																																																																																				0.577	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		63	308	0	0	0	1	0	63	308					C	47193872	T	C	47193872	2	2	54	1	0	0	0	0	0	0	0	1	12566	1606	56	4		4	PRKD2	19	47193872	Silent	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	3271793	47193872	11935111	97	6673											
SULT2B1	6820	broad.mit.edu	37	chr19	49079301	49079301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaacacccaagatgtgCgggacgacgacatctttatc	11	11	1	2	rs371112055		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49079301C>T	ENST00000201586.2	+	2	353	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	SULT2B1_ENST00000323090.4_Missense_Mutation_p.R44W	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCAAGATGTGCGGGACGACGA	0.632																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(130-132)Cgg>Tgg		sulfotransferase family, cytosolic, 2B, member 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	125	105	112		130,175	1.2	1	19		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SULT2B1	NM_004605.2,NM_177973.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	44/351,59/366	49079301	1,13005	2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49079301C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.175C>T	19.37:g.49079301C>T	ENSP00000201586:p.Arg59Trp					SULT2B1_ENST00000201586.2_Missense_Mutation_p.R59W	p.R44W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	1	505	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	59					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.130C>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413766	0.25465	0.0	1.16E-4	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02421	4.3;4.3	4.61	1.17	0.20885	.	0.895653	0.09103	N	0.848233	T	0.01387	0.0045	N	0.14661	0.345	0.25224	N	0.989883	B;P	0.41008	0.412;0.735	B;B	0.20955	0.026;0.032	T	0.46541	-0.9184	10	0.87932	D	0	.	3.1284	0.06415	0.2122:0.5639:0.0:0.2239	.	44;59	O00204-2;O00204	.;ST2B1_HUMAN	W	59;44	ENSP00000201586:R59W;ENSP00000312880:R44W	ENSP00000201586:R59W	R	+	1	2	SULT2B1	53771113	0.078000	0.21339	0.973000	0.42090	0.141000	0.21300	-0.040000	0.12104	1.061000	0.40601	0.561000	0.74099	CGG		0.632	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		116	377	0	0	0	1	0	116	377					T	49079301	C	T	49079301	3	4	54	1	0	0	0	0	1	0	0	0	15434	759	27	1	207	1	SULT2B1	19	49079301	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	1885429	49079301	10049682	98	6674											
NUP62	23636	broad.mit.edu	37	chr19	50412073	50412073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaggctctccagctgcGcgtaggtcatggcggagctg	15	11	3	1	rs377108835		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:50412073G>A	ENST00000596217.1	-	2	2879	c.992C>T	c.(991-993)gCg>gTg	p.A331V	NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A331V			P37198	NUP62_HUMAN	nucleoporin 62kDa	331	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCAGCTGCGCGTAGGTCAT	0.682																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(991-993)gCg>gTg		nucleoporin 62kDa		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,	0,4400		0,0,2200	46	52	50		992,992,992,992,992,	4.1	0.5	19		50	1,8595		0,1,4297	no	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	64,64,64,64,64,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,	331/523,331/523,331/523,331/523,331/523,	50412073	1,12995	2200	4298	6498	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412073G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.992C>T	19.37:g.50412073G>A	ENSP00000471191:p.Ala331Val					IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A331V	p.A331V			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2879	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	331			Ala-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.992C>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373391	0.42105	0.0	1.16E-4	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.76709	-1.04;-1.04;-1.04	5.2	4.14	0.48551	Nucleoporin, NSP1-like, C-terminal (2);	0.075566	0.51477	U	0.000094	T	0.74596	0.3737	L	0.55481	1.735	0.49213	D	0.99976	P	0.42584	0.784	B	0.42495	0.389	T	0.74368	-0.3688	9	.	.	.	-9.4439	13.7291	0.62776	0.0:0.1556:0.8444:0.0	.	331	P37198	NUP62_HUMAN	V	331	ENSP00000305503:A331V;ENSP00000407331:A331V;ENSP00000387991:A331V	.	A	-	2	0	NUP62	55103885	1.000000	0.71417	0.491000	0.27477	0.408000	0.30992	5.070000	0.64376	1.530000	0.49136	0.655000	0.94253	GCG		0.682	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		93	398	0	0	0	1	0	93	398					A	50412073	G	A	50412073	3	1	54	1	0	0	0	0	1	0	0	0	10810	1087	38	1	580	1	NUP62	19	50412073	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	1332772	50412073	8716910	99	6675											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	7	7	3	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22	21	21					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G						ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	284	0	0	0	1	0	8	284					G	53855452	A	G	53855452	2	3	54	1	0	0	0	0	0	0	0	1	18244	117	5	4		4	ZNF845	19	53855452	Silent	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	3443379	53855452	5273531	100	6676											
TM9SF4	9777	broad.mit.edu	37	chr20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaatttcctagtctccGggggctctgcattctacgtc	11	11	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:30749115G>A	ENST00000398022.2	+	17	1961	c.1726G>A	c.(1726-1728)Ggg>Agg	p.G576R	TM9SF4_ENST00000217315.5_Missense_Mutation_p.G559R	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1675-1677)Ggg>Agg		transmembrane 9 superfamily protein member 4							183	158	167					20																	30749115		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30749115G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1726G>A	20.37:g.30749115G>A	ENSP00000381104:p.Gly576Arg					TM9SF4_ENST00000398022.2_Missense_Mutation_p.G576R	p.G559R			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		17	2015	+			576					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1675G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	34	5.362345	0.95877	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.55413	0.52;0.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88401	0.3015	10	0.87932	D	0	-17.3153	18.9705	0.92713	0.0:0.0:1.0:0.0	.	483;576	B4DH88;Q92544	.;TM9S4_HUMAN	R	576;559	ENSP00000381104:G576R;ENSP00000217315:G559R	ENSP00000217315:G559R	G	+	1	0	TM9SF4	30212776	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.175000	0.94831	2.715000	0.92844	0.655000	0.94253	GGG		0.502	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		6	331	0	0	0	1	0	6	331					A	30749115	G	A	30749115	3	1	54	1	0	0	0	0	1	0	0	0	16032	1116	39	1	1792	1	TM9SF4	20	30749115	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		30749115	32276405	101	6677											
ZNF831	128611	broad.mit.edu	37	chr20	57769239	57769239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggctacctcctccccGcccactccaacgtgtgaggc	11	17	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:57769239G>A	ENST00000371030.2	+	1	3165	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1055							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCCTCCCCGCCCACTCCAA	0.647																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3163-3165)ccG>ccA		zinc finger protein 831							24	29	27					20																	57769239		2073	4218	6291	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769239G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3165G>A	20.37:g.57769239G>A							p.P1055P	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3165	+	all_lung(29;0.0085)		1055					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3165G>A	CCDS42894.1																																																																																				0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		8	91	0	0	0	1	0	8	91					A	57769239	G	A	57769239	2	1	54	1	0	0	0	0	0	0	0	1	18238	1074	38	1		1	ZNF831	20	57769239	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	27020124	57769239	5256281	102	6678											
BMX	660	broad.mit.edu	37	chrX	15554529	15554529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaggccaacaaggtccccGactctgtgtccctgggaaat	10	13	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000342014.6_Missense_Mutation_p.D401N|BMX_ENST00000348343.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	401					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAGGTCCCCGACTCTGTGTC	0.408																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1201-1203)Gac>Aac		BMX non-receptor tyrosine kinase							151	123	132					X																	15554529		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15554529G>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1201G>A	X.37:g.15554529G>A	ENSP00000350224:p.Asp401Asn					BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N	p.D401N			P51813	BMX_HUMAN			13	1389	+	Hepatocellular(33;0.183)		401					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1201G>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	g	5.048	0.194624	0.09599	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88975	-2.45;-2.45;-2.45	4.94	-0.125	0.13519	Protein kinase-like domain (1);	1.355510	0.04879	N	0.447326	T	0.73497	0.3594	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.60250	-0.7300	10	0.21014	T	0.42	.	1.3363	0.02145	0.2017:0.1429:0.4229:0.2324	.	401	P51813	BMX_HUMAN	N	401	ENSP00000350224:D401N;ENSP00000308774:D401N;ENSP00000340082:D401N	ENSP00000340082:D401N	D	+	1	0	BMX	15464450	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.656000	0.05342	0.242000	0.21303	0.519000	0.50382	GAC		0.408	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		125	309	0	0	0	1	0	125	309					A	15554529	G	A	15554529	3	1	54	1	0	0	0	0	1	0	0	0	1475	1058	37	1	1247	1	BMX	23	15554529	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		15554529	139716031	103	6679											
RBM10	8241	broad.mit.edu	37	chrX	47039289	47039289	+	Frame_Shift_Del	DEL	G	G	-													cttcccacagccatcattttGcgcaacctgaacccacacag							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:47039289delG	ENST00000377604.3	+	10	1654	c.912delG	c.(910-912)ttgfs	p.L304fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	304	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCATCATTTTGCGCAACCTGA	0.612																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(910-912)ttfs		RNA binding motif protein 10							48	25	33					X																	47039289		2202	4296	6498	SO:0001589	frameshift_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039289delG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.912delG	X.37:g.47039289delG	ENSP00000366829:p.Leu304fs					RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs	p.L304fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			10	1654	+			304			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	c.912delG	CCDS14274.1																																																																																				0.612	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		22	42						22	42	---	---	---	---	-	47039289	G	-	47039289	7	5	54	1	0	1	0	1	0	0	0	0	13161	1310	46	0	946	0	RBM10	23	47039289	Frame_Shift_Del	DEL	G	TCGA-FB-AAQ2-01A-31D-A40W-08	31484760	47039289	108231271	104	6680											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	180	0	0	0	1	0	4	180					A	51076024	G	A	51076024	2	1	54	1	0	0	0	0	0	0	0	1	10768	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	4036735	51076024	104194536	105	6681											
NKAP	79576	broad.mit.edu	37	chrX	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-													ggagctcccaattctccaatTctctctctctcacttaatct							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)agafs	p.R136fs	NKAP_ENST00000477789.1_5'Flank	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(406-408)afs		NFKB activating protein																																				SO:0001589	frameshift_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119072752_119072753delTC	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.407_408delGA	X.37:g.119072762_119072763delTC	ENSP00000360464:p.Arg136fs						p.R136fs	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			2	573_574	-			136					Q6IPW6|Q96BQ2|Q9H638	Frame_Shift_Del	DEL	ENST00000371410.3	37	c.407_408delGA	CCDS14592.1																																																																																				0.322	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		7	628						7	628	---	---	---	---	-	119072753	TC	-	119072752	7	5	54	1	0	1	0	1	0	0	0	0	10481	1780	62	0	871	0	NKAP	23	119072752	Frame_Shift_Del	DEL	TC	TCGA-FB-AAQ2-01A-31D-A40W-08	67996728	119072752	36197808	106	6682											
AFF2	2334	broad.mit.edu	37	chrX	148055040	148055040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaattatgctgatgccGccctctccttcactgaatgt	8	12	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:148055040G>A	ENST00000370460.2	+	16	3786	c.3307G>A	c.(3307-3309)Gcc>Acc	p.A1103T	AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T|AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1103					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.A1103T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGATGCCGCCCTCTCCTT	0.468																																						ENST00000370460.2																			1	Substitution - Missense(1)	p.A1103T(1)	kidney(1)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3307-3309)Gcc>Acc		AF4/FMR2 family, member 2							185	148	161					X																	148055040		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148055040G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3307G>A	X.37:g.148055040G>A	ENSP00000359489:p.Ala1103Thr					AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T|AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T	p.A1103T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			16	3786	+	Acute lymphoblastic leukemia(192;6.56e-05)		1103					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3307G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215490	0.95104	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.75020	0.955;0.889;0.985;0.939;0.939;0.964	D	0.85022	0.0912	10	0.66056	D	0.02	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	744;1068;1068;1064;1093;1103	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	1103;1068;1070;744	ENSP00000359489:A1103T;ENSP00000359486:A1068T;ENSP00000345459:A1070T;ENSP00000286437:A744T	ENSP00000286437:A744T	A	+	1	0	AFF2	147862729	1.000000	0.71417	0.964000	0.40570	0.734000	0.41952	9.827000	0.99397	2.404000	0.81709	0.600000	0.82982	GCC		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		106	301	0	0	0	1	0	106	301					A	148055040	G	A	148055040	3	1	54	1	0	0	0	0	1	0	0	0	357	1087	38	1	3424	1	AFF2	23	148055040	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	28982288	148055040	7215520	107	6683											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		8	311	0	0	0	1	0	8	311					A	150156360	G	A	150156360	2	1	54	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	2101320	150156360	5114200	108	6684											
AJAP1	55966	broad.mit.edu	37	chr1	4832475	4832475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatattcacggcctataaCgagaccctgcagtgttctca	8	12	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1051-1053)aaC>aaT		adherens junctions associated protein 1							78	67	71					1																	4832475		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832475C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1053C>T	1.37:g.4832475C>T						AJAP1_ENST00000378190.3_Silent_p.N351N	p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1434	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	351			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1053C>T	CCDS54.1																																																																																				0.597	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		18	151	0	0	0	1	0	18	151					T	4832475	C	T	4832475	2	4	55	1	0	0	0	0	0	0	0	1	438	535	19	1		1	AJAP1	1	4832475	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		4832475	244418146	1	6685											
RERE	473	broad.mit.edu	37	chr1	8555136	8555153	+	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-													gacttactgtgttcagtgcaTtcagagtggtgtcatcccga					rs186721543	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	ENST00000337907.3	-	11	1708_1725	c.1074_1091delGGATGACACCACTCTGAA	c.(1072-1092)cgggatgacaccactctgaat>cgt	p.DDTTLN359del	RERE_ENST00000377464.1_In_Frame_Del_p.DDTTLN91del|RERE_ENST00000400907.2_In_Frame_Del_p.DDTTLN359del|RERE_ENST00000400908.2_In_Frame_Del_p.DDTTLN359del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	359	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTCAGTGCATTCAGAGTGGTGTCATCCCGAGAGGCTG	0.491																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1072-1092)cgt>cg		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1074_1091delGGATGACACCACTCTGAA	1.37:g.8555136_8555153delTTCAGAGTGGTGTCATCC	ENSP00000338629:p.Asp359_Asn364del					RERE_ENST00000400907.2_In_Frame_Del_p.RDDTTLN358del|RERE_ENST00000377464.1_In_Frame_Del_p.RDDTTLN90del|RERE_ENST00000400908.2_In_Frame_Del_p.RDDTTLN358del	p.RDDTTLN358del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	11	1708_1725	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	358			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.1074_1091delGGATGACACCACTCTGAA	CCDS95.1																																																																																				0.491	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	1054						17	1054	---	---	---	---	-	8555153	TTCAGAGTGGTGTCATCC	-	8555136	7	5	55	1	0	1	0	1	0	0	0	0	13281	1493	52	0	3665	0	RERE	1	8555136	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TCGA-FB-AAQ3-01A-11D-A40W-08	3722661	8555136	240695485	2	6686											
NIPAL3	57185	broad.mit.edu	37	chr1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgacagtcaaggccGtggctgggatgcttgtcttg	16	8	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000374399.4	+	8	1035	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	NIPAL3_ENST00000003912.3_Missense_Mutation_p.V141M|NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557																																						ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(421-423)Gtg>Atg		NIPA-like domain containing 3							386	351	363					1																	24782657		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24782657G>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.667G>A	1.37:g.24782657G>A	ENSP00000363520:p.Val223Met					NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.V223M	p.V141M			Q6P499	NPAL3_HUMAN			9	1136	+			223					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.421G>A	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.938783|3.938783	0.73557|0.73557	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.91792	.|-2.91;-2.91;-2.91	5.79|5.79	4.87|4.87	0.63330|0.63330	.|.	.|0.107041	.|0.64402	.|D	.|0.000006	D|D	0.95953|0.95953	0.8682|0.8682	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.66351	.|0.923;0.943	D|D	0.95952|0.95952	0.8955|0.8955	5|10	.|0.62326	.|D	.|0.03	-32.0797|-32.0797	14.3693|14.3693	0.66828|0.66828	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|223;223	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	H|M	1|223;141;223	.|ENSP00000363520:V223M;ENSP00000003912:V141M;ENSP00000343549:V223M	.|ENSP00000003912:V141M	R|V	+|+	2|1	0|0	NIPAL3|NIPAL3	24655244|24655244	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.732000|0.732000	0.41865|0.41865	5.124000|5.124000	0.64709|0.64709	2.745000|2.745000	0.94114|0.94114	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.557	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		9	1270	0	0	0	1	0	9	1270					A	24782657	G	A	24782657	3	1	55	1	0	0	0	0	1	0	0	0	10468	1145	40	1	693	1	NIPAL3	1	24782657	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	16227521	24782657	224467964	3	6687											
MACF1	23499	broad.mit.edu	37	chr1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcccagcaggaaatgatGaagccaggccaggcagagga	14	10	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000372915.3	+	29	3990	c.3903G>A	c.(3901-3903)atG>atA	p.M1301I	MACF1_ENST00000564288.1_Missense_Mutation_p.M1296I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3886-3888)atG>atA		microtubule-actin crosslinking factor 1							75	65	68					1																	39784230		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39784230G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3903G>A	1.37:g.39784230G>A	ENSP00000362006:p.Met1301Ile					MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR	p.M1296I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		30	4665	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1301	TA -> LP (in Ref. 4; AAL39000).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3888G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584623|2.584623	0.46110|0.46110	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|.	.|.	.|.	.|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.34587	.|0.458;0.32;0.019	.|B;B;B	.|0.31869	.|0.137;0.077;0.032	T|T	0.05835|0.05835	-1.0861|-1.0861	5|9	.|0.10636	.|T	.|0.68	.|.	20.4387|20.4387	0.99107|0.99107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1301;1301;1266	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	K|I	435|1301;1301;1301;1301;1301;1259;1450	.|ENSP00000439537:M1301I;ENSP00000362006:M1301I;ENSP00000354573:M1301I;ENSP00000313438:M1301I;ENSP00000444364:M1301I;ENSP00000435070:M1259I;ENSP00000437059:M1450I	.|ENSP00000313438:M1301I	E|M	+|+	1|3	0|0	MACF1|MACF1	39556817|39556817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.371000|3.371000	0.52379|0.52379	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	157	0	0	0	1	0	18	157					A	39784230	G	A	39784230	3	1	55	1	0	0	0	0	1	0	0	0	9183	1290	45	2	4017	2	MACF1	1	39784230	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	15001573	39784230	209466391	4	6688											
EIF2B3	8891	broad.mit.edu	37	chr1	45407181	45407182	+	Frame_Shift_Ins	INS	-	-	T													ctccaatcttccttacctgcINStttttttttccccttttgac					rs148977100		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:45407181_45407182insT	ENST00000360403.2	-	4	576_577	c.450_451insA	c.(448-453)aaagcafs	p.A151fs	EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.A151fs|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	151					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTTACCTGCTTTTTTTTTCC	0.356																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(448-453)aacagtfs		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa																																				SO:0001589	frameshift_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407181_45407182insT	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.451dupA	1.37:g.45407190_45407190dupT	ENSP00000353575:p.Ala151fs					EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.NS150fs	p.NS150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			4	576_577	-	Acute lymphoblastic leukemia(166;0.155)		150					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Ins	INS	ENST00000360403.2	37	c.450_451insA	CCDS517.1																																																																																				0.356	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		8	423						8	423	---	---	---	---	T	45407182	-	T	45407181	7	5	55	1	0	1	1	0	0	0	0	0	5018	797	28	0	980	0	EIF2B3	1	45407181	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08	5622951	45407181	203843440	5	6689											
ODF2L	57489	broad.mit.edu	37	chr1	86826141	86826142	+	Frame_Shift_Ins	INS	-	-	T													atttcaataagggttttctgINSttttttttctacttcttgca					rs372782838		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:86826141_86826142insT	ENST00000359242.3	-	12	1502_1503	c.1221_1222insA	c.(1219-1224)aaacagfs	p.Q408fs	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.Q248fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.Q408fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.Q379fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	408						centrosome (GO:0005813)		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287																																						ENST00000359242.3																			2	Deletion - Frameshift(2)	p.K378fs*22(2)	lung(2)	endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1219-1224)aaagaafs		outer dense fiber of sperm tails 2-like			,,,	3,4259		0,3,2128					,,,	5.9	1			91	5,8229		0,5,4112	no	frameshift,frameshift,frameshift,frameshift	ODF2L	NM_020729.2,NM_001184766.1,NM_001184765.1,NM_001007022.2	,,,	0,8,6240	A1A1,A1R,RR		0.0607,0.0704,0.064	,,,	,,,		8,12488				SO:0001589	frameshift_variant	57489					centrosome		g.chr1:86826141_86826142insT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1222dupA	1.37:g.86826149_86826149dupT	ENSP00000359600:p.Gln408fs					ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs	p.E408fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1502_1503	-			408					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Ins	INS	ENST00000359242.3	37	c.1221_1222insA	CCDS41354.2																																																																																				0.287	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			7	364						7	364	---	---	---	---	T	86826142	-	T	86826141	7	5	55	1	0	1	1	0	0	0	0	0	10870	1386	48	0	892	0	ODF2L	1	86826141	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08	41418960	86826141	162424480	6	6690											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		8	412						8	412	---	---	---	---	-	92447230	AGC	-	92447228	7	5	55	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-FB-AAQ3-01A-11D-A40W-08	5621087	92447228	156803393	7	6691											
GLMN	11146	broad.mit.edu	37	chr1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taagaccattggaagctgatCaatatggatgccctgtacaa	9	8	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					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)			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)		GGAAGCTGATCAATATGGATG	0.318									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(901-903)Gat>Cat		glomulin, FKBP associated protein							173	167	169					1																	92737044		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.chr1:92737044C>G	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.901G>C	1.37:g.92737044C>G	ENSP00000359385:p.Asp301His					GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	8	982	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	301					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.901G>C	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871104	0.51695	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50001	0.76;0.78	5.08	4.17	0.49024	.	0.141925	0.64402	D	0.000007	T	0.50616	0.1626	M	0.63843	1.955	0.38063	D	0.936146	D;D	0.89917	0.989;1.0	P;D	0.69824	0.882;0.966	T	0.58064	-0.7702	10	0.87932	D	0	-13.4808	8.206	0.31456	0.0:0.7503:0.0:0.2497	.	301;301	B4DJ85;Q92990	.;GLMN_HUMAN	H	301	ENSP00000359385:D301H;ENSP00000440156:D301H	ENSP00000359385:D301H	D	-	1	0	GLMN	92509632	0.967000	0.33354	0.880000	0.34516	0.924000	0.55760	0.970000	0.29383	1.126000	0.42016	0.591000	0.81541	GAT		0.318	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		5	631	0	0	0	1	0	5	631					G	92737044	C	G	92737044	3	3	55	1	0	0	0	0	1	0	0	0	6477	826	29	5	931	5	GLMN	1	92737044	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	289816	92737044	156513577	8	6692											
SYCP1	6847	broad.mit.edu	37	chr1	115469134	115469134	+	Frame_Shift_Del	DEL	A	A	-													tttaacagaataaggccttgAaaaaaaaaggtacagcagaa							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:115469134delA	ENST00000369522.3	+	23	2116	c.1876delA	c.(1876-1878)aaafs	p.K628fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	628					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGCCTTGAAAAAAAAAGG	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1876-1878)aafs		synaptonemal complex protein 1							37	41	40					1																	115469134		2188	4275	6463	SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469134delA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1876delA	1.37:g.115469134delA	ENSP00000358535:p.Lys628fs					SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	p.K628fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	628					O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	c.1876delA	CCDS879.1																																																																																				0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		7	182						7	182	---	---	---	---	-	115469134	A	-	115469134	7	5	55	1	0	1	0	1	0	0	0	0	15483	247	9	0	1962	0	SYCP1	1	115469134	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ3-01A-11D-A40W-08	22732090	115469134	133781487	9	6693											
FLG	2312	broad.mit.edu	37	chr1	152284369	152284369	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgtctggagctgtctgcaGagtgcccgtgaccggctctg	14	11	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152284369G>C	ENST00000368799.1	-	3	3028	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	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.S998Y(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)			GCTGTCTGCAGAGTGCCCGTG	0.562									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.S998Y(1)	lung(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						c.(2992-2994)tCt>tGt		filaggrin							255	257	256					1																	152284369		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.chr1:152284369G>C	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.2993C>G	1.37:g.152284369G>C	ENSP00000357789:p.Ser998Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S998C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3028	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		998			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2993C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.893	0.165929	0.09339	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00808	5.67	2.29	2.29	0.28610	.	.	.	.	.	T	0.00637	0.0021	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	B	0.41917	0.37	T	0.51317	-0.8721	9	0.66056	D	0.02	.	7.8265	0.29318	0.0:0.0:1.0:0.0	.	998	P20930	FILA_HUMAN	C	998;205	ENSP00000357789:S998C	ENSP00000357789:S998C	S	-	2	0	FLG	150550993	0.008000	0.16893	0.001000	0.08648	0.062000	0.15995	2.614000	0.46359	1.117000	0.41842	0.291000	0.19559	TCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	1500	0	0	0	1	0	8	1500					C	152284369	G	C	152284369	3	2	55	1	0	0	0	0	1	0	0	0	5947	942	33	5	9196	5	FLG	1	152284369	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	36815235	152284369	96966252	10	6694											
ELK4	2005	broad.mit.edu	37	chr1	205589059	205589059	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaagggcaaataaatgaaAgcaatggtgacaccataaag	9	5	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:205589059A>C	ENST00000357992.4	-	3	1420				ELK4_ENST00000289703.4_Missense_Mutation_p.L372R|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)						cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATAAATGAAAGCAATGGTGA	0.408			T	SLC45A3	prostate																																	ENST00000289703.4				Dom	yes		1	1q32	2005	T	"ELK4, ETS-domain protein (SRF accessory protein 1)"			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(1114-1116)cTt>cGt		ELK4, ETS-domain protein (SRF accessory protein 1)							71	73	72					1																	205589059		2203	4300	6503	SO:0001627	intron_variant	2005							g.chr1:205589059A>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1080+34T>G	1.37:g.205589059A>C						ELK4_ENST00000357992.4_Intron	p.L372R	NM_021795.2	NP_068567.1			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1454	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.1115T>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995852	0.54147	.	.	ENSG00000158711	ENST00000289703	T	0.61392	0.11	5.81	3.25	0.37280	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.26154	N	0.980109	B	0.27791	0.189	B	0.30179	0.112	T	0.45041	-0.9288	8	0.72032	D	0.01	.	7.2071	0.25913	0.7602:0.0:0.2398:0.0	.	372	P28324-2	.	R	372	ENSP00000289703:L372R	ENSP00000289703:L372R	L	-	2	0	ELK4	203855682	0.000000	0.05858	0.010000	0.14722	0.029000	0.11900	0.764000	0.26532	0.357000	0.24183	0.533000	0.62120	CTT		0.408	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		42	159	0	0	0	1	0	42	159					C	205589059	A	C	205589059	1	2	55	0	1	0	0	0	0	0	0	0	5079	72	3	4		4	ELK4	1	205589059	Intron	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	53304690	205589059	43661562	11	6695											
GALNT2	2590	broad.mit.edu	37	chr1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcaggacccttacgcccGcaacaagttcaaccaggtgg	12	14	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	101					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(301-303)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							123	123	123					1																	230338964		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338964G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.302G>A	1.37:g.230338964G>A	ENSP00000355632:p.Arg101His					GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	p.R101H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			3	374	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	101					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.302G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625072	0.96671	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.56611	0.45;0.45;1.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.55017	1.72	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60609	0.853;0.877	T	0.66862	-0.5816	10	0.56958	D	0.05	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	101;63	Q10471;G3V1S6	GALT2_HUMAN;.	H	63;101;11	ENSP00000445017:R63H;ENSP00000355632:R101H;ENSP00000444346:R11H	ENSP00000355632:R101H	R	+	2	0	GALNT2	228405587	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.792000	0.99085	2.826000	0.97356	0.655000	0.94253	CGC		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		7	547	0	0	0	1	0	7	547					A	230338964	G	A	230338964	3	1	55	1	0	0	0	0	1	0	0	0	6241	1087	38	1	312	1	GALNT2	1	230338964	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	24749905	230338964	18911657	12	6696											
FIGN	55137	broad.mit.edu	37	chr2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtttgaaatgctgttgtCgggcattctgtacataggac	12	6	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:164467285C>T	ENST00000333129.3	-	3	1371	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	353					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTGTTGTCGGGCATTCTG	0.448																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1057-1059)Gac>Aac		fidgetin							130	124	126					2																	164467285		1940	4135	6075	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467285C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1057G>A	2.37:g.164467285C>T	ENSP00000333836:p.Asp353Asn					FIGN_ENST00000409634.1_Intron	p.D353N	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1371	-			353					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1057G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148351	0.57151	.	.	ENSG00000182263	ENST00000333129	D	0.92805	-3.11	5.94	5.94	0.96194	.	0.172226	0.49916	D	0.000132	D	0.95421	0.8513	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.93718	0.7030	10	0.35671	T	0.21	-28.7549	20.3666	0.98879	0.0:1.0:0.0:0.0	.	353	Q5HY92	FIGN_HUMAN	N	353	ENSP00000333836:D353N	ENSP00000333836:D353N	D	-	1	0	FIGN	164175531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.814000	0.96858	0.563000	0.77884	GAC		0.448	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		81	382	0	0	0	1	0	81	382					T	164467285	C	T	164467285	3	4	55	1	0	0	0	0	1	0	0	0	5916	884	31	1	1226	1	FIGN	2	164467285	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		164467285	78732088	13	6697											
PLEKHM3	389072	broad.mit.edu	37	chr2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaagctggtacgtgGcataaaggttttgattccca	12	6	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000427836.2	-	3	1253	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448																																						ENST00000457206.1																			2	Substitution - Missense(2)	p.A255V(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(763-765)gCc>gTc		pleckstrin homology domain containing, family M, member 3							197	192	194					2																	208842157		1980	4174	6154	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208842157G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.764C>T	2.37:g.208842157G>A	ENSP00000417003:p.Ala255Val					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A255V	p.A255V			Q6ZWE6	PKHM3_HUMAN			3	1191	-			255			PH 1.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.764C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363231	0.41902	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	T;T;T	0.29655	1.56;1.56;1.56	5.96	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.265266	0.36740	N	0.002437	T	0.20700	0.0498	N	0.19112	0.55	0.35452	D	0.795766	B;B	0.32573	0.376;0.1	B;B	0.26770	0.073;0.036	T	0.24977	-1.0145	10	0.59425	D	0.04	-18.8129	14.2231	0.65841	0.0:0.0:0.7279:0.2721	.	255;255	C9J119;Q6ZWE6	.;PKHM3_HUMAN	V	255	ENSP00000417003:A255V;ENSP00000373899:A255V;ENSP00000400150:A255V	ENSP00000373899:A255V	A	-	2	0	PLEKHM3	208550402	1.000000	0.71417	0.996000	0.52242	0.617000	0.37484	4.284000	0.58983	1.516000	0.48900	0.655000	0.94253	GCC		0.448	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		6	558	0	0	0	1	0	6	558					A	208842157	G	A	208842157	3	1	55	1	0	0	0	0	1	0	0	0	12124	1203	42	2	1545	2	PLEKHM3	2	208842157	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	44374872	208842157	34357216	14	6698											
MREG	55686	broad.mit.edu	37	chr2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgggacacatcatgggGcatactccataaattcttct	9	9	3	0	rs368256699		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438																																						ENST00000263268.6																			0				large_intestine(1)|lung(2)	3						c.(166-168)Ccc>Tcc		melanoregulin							133	131	131					2																	216861118		1902	4128	6030	SO:0001583	missense	55686					apical plasma membrane		g.chr2:216861118G>A	AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.166C>T	2.37:g.216861118G>A	ENSP00000263268:p.Pro56Ser						p.P56S	NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)	2	461	-		Renal(323;0.0328)	56					Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	37	c.166C>T	CCDS46513.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445649	0.84101	.	.	ENSG00000118242	ENST00000236976;ENST00000263268;ENST00000439791;ENST00000424992;ENST00000420348	T	0.57595	0.39	5.3	5.3	0.74995	.	0.053672	0.85682	D	0.000000	T	0.69602	0.3129	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71388	-0.4608	10	0.87932	D	0	-15.281	16.501	0.84256	0.0:0.0:1.0:0.0	.	56	Q8N565	MREG_HUMAN	S	56;56;2;2;2	ENSP00000263268:P56S	ENSP00000236976:P56S	P	-	1	0	MREG	216569363	1.000000	0.71417	0.943000	0.38184	0.969000	0.65631	5.223000	0.65283	2.759000	0.94783	0.557000	0.71058	CCC		0.438	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	NM_018000		5	371	0	0	0	1	0	5	371					A	216861118	G	A	216861118	3	1	55	1	0	0	0	0	1	0	0	0	9801	1203	42	2	494	2	MREG	2	216861118	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	8018961	216861118	26338255	15	6699											
ANKRD28	23243	broad.mit.edu	37	chr3	15762489	15762489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctccatgtgttgatgcaGcagcaaagtgcaaaggagta	12	7	0	1	rs369055825		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:15762489G>A	ENST00000399451.2	-	8	1206	c.839C>T	c.(838-840)gCt>gTt	p.A280V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	280						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTTGATGCAGCAGCAAAGTG	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(838-840)gCt>gTt		ankyrin repeat domain 28							147	142	144					3																	15762489		1912	4119	6031	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15762489G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.839C>T	3.37:g.15762489G>A	ENSP00000382379:p.Ala280Val					ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	p.A280V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			8	1206	-			280					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.839C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676064	0.96764	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.63417	-0.04;-0.04;-0.04	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70716	0.95;0.908;0.97	T	0.75434	-0.3319	10	0.51188	T	0.08	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	313;310;280	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	V	280;313;280	ENSP00000382379:A280V;ENSP00000373287:A313V;ENSP00000397341:A280V	ENSP00000373287:A313V	A	-	2	0	ANKRD28	15737493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.868000	0.98415	0.557000	0.71058	GCT		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		5	456	0	0	0	1	0	5	456					A	15762489	G	A	15762489	3	1	55	1	0	0	0	0	1	0	0	0	656	971	34	2	2406	2	ANKRD28	3	15762489	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		15762489	182259941	16	6700											
SETD2	29072	broad.mit.edu	37	chr3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtagaaagtttattgcGgtctttaattcgtactttct	7	7	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6337-6339)Cgc>Tgc		SET domain containing 2							56	58	57					3																	47098937		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098937G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6337C>T	3.37:g.47098937G>A	ENSP00000386759:p.Arg2113Cys						p.R2113C	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6379	-		Acute lymphoblastic leukemia(5;0.0169)	2113					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6337C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388690	0.82902	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24908	1.83	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000013	T	0.43122	0.1233	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.57679	0.825;0.825	T	0.36817	-0.9732	10	0.87932	D	0	.	18.4955	0.90864	0.0:0.0:1.0:0.0	.	2113;2113	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	2113	ENSP00000386759:R2113C	ENSP00000386759:R2113C	R	-	1	0	SETD2	47073941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.993000	0.70616	2.686000	0.91538	0.561000	0.74099	CGC		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		5	255	0	0	0	1	0	5	255					A	47098937	G	A	47098937	3	1	55	1	0	0	0	0	1	0	0	0	14181	1116	39	1	1385	1	SETD2	3	47098937	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	31336448	47098937	150923493	17	6701											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		11	285						11	285	---	---	---	---	-	49094316	TGC	-	49094314	7	5	55	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-FB-AAQ3-01A-11D-A40W-08	1995377	49094314	148928116	18	6702											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		10	631						10	631	---	---	---	---	-	49321971	TCT	-	49321969	7	5	55	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-FB-AAQ3-01A-11D-A40W-08	227655	49321969	148700461	19	6703											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	262						8	262	---	---	---	---	-	49723112	T	-	49723112	6	5	55	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-FB-AAQ3-01A-11D-A40W-08	401143	49723112	148299318	20	6704											
KALRN	8997	broad.mit.edu	37	chr3	124385955	124385955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggttgttctgcaagccGccaacgctgacatccagcag	12	12	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:124385955G>A	ENST00000291478.5	+	14	1697	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	KALRN_ENST00000428018.2_Missense_Mutation_p.A480T|KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000360013.3_Missense_Mutation_p.A2209T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2208					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCAAGCCGCCAACGCTGA	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6625-6627)Gcc>Acc		kalirin, RhoGEF kinase							94	89	91					3																	124385955		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124385955G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1534G>A	3.37:g.124385955G>A	ENSP00000291478:p.Ala512Thr					KALRN_ENST00000291478.4_Missense_Mutation_p.A512T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T	p.A2209T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			47	6752	+			2208			PH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6625G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274682	0.59649	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.31752	0.955	0.42745	D	0.993751	B;P;P;P	0.44309	0.011;0.757;0.492;0.832	B;B;B;B	0.24541	0.003;0.025;0.023;0.054	T	0.07731	-1.0757	10	0.44086	T	0.13	.	18.7483	0.91802	0.0:0.0:1.0:0.0	.	301;512;550;2208	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	T	2209;550;512;480;301	ENSP00000353109:A2209T;ENSP00000377134:A550T;ENSP00000291478:A512T;ENSP00000402419:A480T;ENSP00000420318:A301T	ENSP00000291478:A512T	A	+	1	0	KALRN	125868645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.522000	0.81844	2.665000	0.90641	0.462000	0.41574	GCC		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	300	0	0	0	1	0	5	300					A	124385955	G	A	124385955	3	1	55	1	0	0	0	0	1	0	0	0	8005	1087	38	1	6967	1	KALRN	3	124385955	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	74662843	124385955	73636475	21	6705											
MCM2	4171	broad.mit.edu	37	chr3	127327253	127327253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaactaccagcgtatccGaatccaggagagtccaggca	10	12	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:127327253G>A	ENST00000265056.7	+	7	1374	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	377					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CAGCGTATCCGAATCCAGGAG	0.577																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1129-1131)cGa>cAa		minichromosome maintenance complex component 2							134	139	138					3																	127327253		2203	4300	6503	SO:0001583	missense	4171				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327253G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1130G>A	3.37:g.127327253G>A	ENSP00000265056:p.Arg377Gln						p.R377Q	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			7	1374	+			377					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1130G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.513847|3.513847	0.64522|0.64522	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.30448	.|1.53	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.364383	.|0.28482	.|N	.|0.015195	T|T	0.16727|0.16727	0.0402|0.0402	L|L	0.31926|0.31926	0.97|0.97	0.33187|0.33187	D|D	0.550306|0.550306	.|P;B;B	.|0.43633	.|0.813;0.004;0.001	.|B;B;B	.|0.28553	.|0.091;0.002;0.002	T|T	0.35025|0.35025	-0.9805|-0.9805	5|10	.|0.87932	.|D	.|0	-10.9958|-10.9958	6.1021|6.1021	0.20053|0.20053	0.1218:0.1885:0.6897:0.0|0.1218:0.1885:0.6897:0.0	.|.	.|358;247;377	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	K|Q	240|377;281;358	.|ENSP00000265056:R377Q	.|ENSP00000265056:R377Q	E|R	+|+	1|2	0|0	MCM2|MCM2	128809943|128809943	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.992000|0.992000	0.81027|0.81027	4.447000|4.447000	0.60020|0.60020	2.476000|2.476000	0.83614|0.83614	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.577	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	835	0	0	0	1	0	6	835					A	127327253	G	A	127327253	3	1	55	1	0	0	0	0	1	0	0	0	9427	1058	37	1	1156	1	MCM2	3	127327253	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	2941298	127327253	70695177	22	6706											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				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)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	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.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	824						7	824	---	---	---	---	A	185212518	-	A	185212517	7	5	55	1	0	1	1	0	0	0	0	0	16216	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08	57885264	185212517	12809913	23	6707											
APBB2	323	broad.mit.edu	37	chr4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatgcagttgttgaccGcaacactacttttaccgggg	11	11	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000506352.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000513140.1_Missense_Mutation_p.A421V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			1	Substitution - Missense(1)	p.A421V(1)	urinary_tract(1)	central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1324-1326)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 2							206	213	211					4																	40895355		1997	4171	6168	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40895355G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1325C>T	4.37:g.40895355G>A	ENSP00000295974:p.Ala442Val					APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V	p.A442V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			11	1954	-			442			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1325C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243991	0.79912	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.999;0.999	T	0.17198	-1.0377	10	0.66056	D	0.02	-15.5656	19.7013	0.96054	0.0:0.0:1.0:0.0	.	404;443;421;442	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	V	442;441;421;443;421	ENSP00000295974:A442V;ENSP00000426018:A421V;ENSP00000427211:A443V;ENSP00000421539:A421V	ENSP00000295974:A442V	A	-	2	0	APBB2	40590112	1.000000	0.71417	0.604000	0.28916	0.138000	0.21146	9.771000	0.98977	2.657000	0.90304	0.655000	0.94253	GCG		0.502	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		6	831	0	0	0	1	0	6	831					A	40895355	G	A	40895355	3	1	55	1	0	0	0	0	1	0	0	0	761	1087	38	1	983	1	APBB2	4	40895355	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		40895355	150258921	24	6708											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		5	490	0	0	0	1	0	5	490					C	52777312	T	C	52777312	3	2	55	1	0	0	0	0	1	0	0	0	4327	1609	56	4	726	4	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	11881957	52777312	138376964	25	6709											
C4orf40	401137	broad.mit.edu	37	chr4	71024466	71024466	+	Missense_Mutation	SNP	C	C	T													tgcagaggcacctgttggagCtgagcctgctgcagaggcac					rs201012961		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:71024466C>T	ENST00000344526.5	+	3	686	c.497C>T	c.(496-498)gCt>gTt	p.A166V	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A166V	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		166	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTGTTGGAGCTGAGCCTGCT	0.632																																						ENST00000344526.5																			1	Substitution - Missense(1)	p.A166V(1)	lung(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(496-498)gCt>gTt		chromosome 4 open reading frame 40							30	30	30					4																	71024466		2203	4298	6501	SO:0001583	missense	401137					extracellular region		g.chr4:71024466C>T																												ENST00000344526.5:c.497C>T	4.37:g.71024466C>T	ENSP00000343172:p.Ala166Val					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A166V	p.A166V	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	686	+			166			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.497C>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250256	0.22880	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.33654	1.4;1.4	4.45	-4.02	0.04034	.	.	.	.	.	T	0.14874	0.0359	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.22880	0.042	T	0.14952	-1.0454	9	0.45353	T	0.12	-4.1741	1.4635	0.02401	0.1179:0.3066:0.2443:0.3312	.	166	Q6MZM9	CD040_HUMAN	V	166	ENSP00000426249:A166V;ENSP00000343172:A166V	ENSP00000343172:A166V	A	+	2	0	C4orf40	71059055	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.976000	0.01497	-0.789000	0.04498	0.609000	0.83330	GCT		0.632	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			18	116	0	0	0	1	0	18	116					T	71024466	C	T	71024466	3	4	55	1	0	0	0	0	1	0	0	0	2276	797	28	2	507	2	C4orf40	4	71024466	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	18247154	71024466	120129810	26	6710	45	2									
C4orf40	401137	broad.mit.edu	37	chr4	71024467	71024467	+	Silent	SNP	T	T	G													gcagaggcacctgttggagcTgagcctgctgcagaggcacc					rs201990073		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:71024467T>G	ENST00000344526.5	+	3	687	c.498T>G	c.(496-498)gcT>gcG	p.A166A	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.A166A	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		166	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGTTGGAGCTGAGCCTGCTG	0.627																																						ENST00000344526.5																			1	Substitution - Missense(1)	p.A166V(1)	lung(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(496-498)gcT>gcG		chromosome 4 open reading frame 40							30	31	30					4																	71024467		2203	4297	6500	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024467T>G																												ENST00000344526.5:c.498T>G	4.37:g.71024467T>G						C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.A166A	p.A166A	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	687	+			166			Ala-rich.		A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.498T>G	CCDS3535.1																																																																																				0.627	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			16	122	0	0	0	1	0	16	122					G	71024467	T	G	71024467	2	3	55	1	0	0	0	0	0	0	0	1	2276	1567	55	4		4	C4orf40	4	71024467	Silent	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	1	71024467	120129809	27	6711	45	2									
INPP4B	8821	broad.mit.edu	37	chr4	143033802	143033802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgactcaaacattctGgctggaagcttgacctctac	10	10	3	2	rs376859157		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000508116.1_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2167-2169)gcC>gcT		inositol polyphosphate-4-phosphatase, type II, 105kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	155	153	154		2169,2169	-9.7	0	4		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	INPP4B	NM_001101669.1,NM_003866.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	723/925,723/925	143033802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143033802G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2169C>T	4.37:g.143033802G>A						INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			23	2602	-	all_hematologic(180;0.158)		723					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.2169C>T	CCDS3757.1																																																																																				0.368	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		91	449	0	0	0	1	0	91	449					A	143033802	G	A	143033802	2	1	55	1	0	0	0	0	0	0	0	1	7783	1335	47	2		2	INPP4B	4	143033802	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	72009335	143033802	48120474	28	6712											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	153						7	153	---	---	---	---	A	190878556	-	A	190878555	7	5	55	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08	47844753	190878555	275721	29	6713											
THBS4	7060	broad.mit.edu	37	chr5	79336068	79336069	+	Frame_Shift_Ins	INS	-	-	T													tcaactgacaacagtaaataINSttttgaatttactgtgatgg							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:79336068_79336069insT	ENST00000350881.2	+	2	447_448	c.257_258insT	c.(256-261)tattttfs	p.YF86fs	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	86	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AACAGTAAATATTTTGAATTTA	0.371																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(256-258)tttfs		thrombospondin 4																																				SO:0001589	frameshift_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79336068_79336069insT		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.261dupT	5.37:g.79336072_79336072dupT	ENSP00000339730:p.Tyr86fs					THBS4_ENST00000511733.1_5'UTR	p.F86fs	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	2	447_448	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	86			TSP N-terminal.		B2R909|Q86TG2	Frame_Shift_Ins	INS	ENST00000350881.2	37	c.257_258insT	CCDS4049.1																																																																																				0.371	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			39	237						39	237	---	---	---	---	T	79336069	-	T	79336068	7	5	55	1	0	1	1	0	0	0	0	0	15908	449	16	0	263	0	THBS4	5	79336068	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08		79336068	101579192	30	6714											
SNCAIP	9627	broad.mit.edu	37	chr5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccaacaactctgaggacCccaagactaccccagtgagg	8	15	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261368.8	+	10	2324	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P735S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2203-2205)Ccc>Tcc		synuclein, alpha interacting protein							55	55	55					5																	121786604		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786604C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2062C>T	5.37:g.121786604C>T	ENSP00000261368:p.Pro688Ser					SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P688S	p.P735S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3631	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	688					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2203C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805916	0.70682	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.12465	4.49;5.02;2.73;2.68;5.02;4.99;2.68;4.71	6.06	6.06	0.98353	.	0.332317	0.35436	N	0.003205	T	0.15825	0.0381	L	0.29908	0.895	0.34659	D	0.72249	B;B;B;B;B;B;B;B	0.32467	0.208;0.354;0.208;0.241;0.312;0.372;0.372;0.156	B;B;B;B;B;B;B;B	0.35550	0.101;0.138;0.101;0.058;0.205;0.058;0.114;0.026	T	0.07731	-1.0757	10	0.56958	D	0.05	-24.3293	20.6208	0.99490	0.0:1.0:0.0:0.0	.	628;316;290;628;322;322;735;688	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	S	246;628;688;735;628;322;735;290;328	ENSP00000441681:P246S;ENSP00000422106:P628S;ENSP00000261368:P688S;ENSP00000368848:P735S;ENSP00000368851:P628S;ENSP00000368854:P322S;ENSP00000261367:P735S;ENSP00000394392:P290S	ENSP00000261367:P735S	P	+	1	0	SNCAIP	121814503	0.992000	0.36948	1.000000	0.80357	0.900000	0.52787	2.147000	0.42226	2.882000	0.98803	0.655000	0.94253	CCC		0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			45	198	0	0	0	1	0	45	198					T	121786604	C	T	121786604	3	4	55	1	0	0	0	0	1	0	0	0	14891	623	22	2	2096	2	SNCAIP	5	121786604	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	42450536	121786604	59128656	31	6715											
FAM13B	51306	broad.mit.edu	37	chr5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacctttaatttgcttccGcagttttgtaagctctgtca	6	9	2	0	rs375616241		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1849-1851)Cgg>Tgg		family with sequence similarity 13, member B		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	102	108	106		1849,1561,1849	3.9	1	5		106	0,8600		0,0,4300	no	missense,missense,missense	FAM13B	NM_001101800.1,NM_001101801.1,NM_016603.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	617/888,521/792,617/916	137288332	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288332G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1849C>T	5.37:g.137288332G>A	ENSP00000033079:p.Arg617Trp					FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			16	2300	-			617					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1849C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871297	0.72065	2.27E-4	0.0	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95788	-3.81;0.71;-3.81	5.92	3.94	0.45596	.	0.055638	0.64402	D	0.000002	D	0.97356	0.9135	M	0.82517	2.595	0.51482	D	0.999926	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73708	0.981;0.928;0.957	D	0.97740	1.0208	10	0.87932	D	0	-6.3967	12.1708	0.54157	0.0:0.0:0.4451:0.5549	.	521;617;617	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	W	617;521;617	ENSP00000033079:R617W;ENSP00000394669:R521W;ENSP00000388521:R617W	ENSP00000033079:R617W	R	-	1	2	FAM13B	137316231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.782000	0.55401	1.460000	0.47911	0.557000	0.71058	CGG		0.313	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			74	412	0	0	0	1	0	74	412					A	137288332	G	A	137288332	3	1	55	1	0	0	0	0	1	0	0	0	5474	1086	38	1	930	1	FAM13B	5	137288332	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	15501728	137288332	43626928	32	6716											
PCDHA8	56140	broad.mit.edu	37	chr5	140223264	140223264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatcagttgatgtaggCgaagagcaagatttaaatgt	13	4	1	3	rs370299201		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	786	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2356-2358)ggC>ggT									54	55	55					5																	140223264		2196	4263	6459	SO:0001819	synonymous_variant	0							g.chr5:140223264C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2358C>T	5.37:g.140223264C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.G786G	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2358	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2358C>T	CCDS54919.1																																																																																				0.448	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		41	199	0	0	0	1	0	41	199					T	140223264	C	T	140223264	2	4	55	1	0	0	0	0	0	0	0	1	11572	755	27	1		1	PCDHA8	5	140223264	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	2934932	140223264	40691996	33	6717											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacagatgaggccctggatCgggagcagaccccagagtac	13	11	0	4			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1234-1236)Cgg>Tgg									42	46	45					5																	140798660		2078	4186	6264	SO:0001583	missense	0							g.chr5:140798660C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1234C>T	5.37:g.140798660C>T	ENSP00000381594:p.Arg412Trp					PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.R412W	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1234	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1234C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	14.00	2.405532	0.42715	.	.	ENSG00000254122	ENST00000398594	T	0.01685	4.69	5.31	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	0.000000	0.28671	U	0.014540	T	0.19167	0.0460	H	0.97940	4.11	0.22648	N	0.998896	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44982	-0.9292	10	0.87932	D	0	.	19.8821	0.96901	0.8062:0.1938:0.0:0.0	.	412;412	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	W	412	ENSP00000381594:R412W	ENSP00000381594:R412W	R	+	1	2	PCDHGB7	140778844	0.029000	0.19370	0.019000	0.16419	0.952000	0.60782	-0.448000	0.06820	-0.478000	0.06823	0.561000	0.74099	CGG		0.473	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		8	165	0	0	0	1	0	8	165					T	140798660	C	T	140798660	3	4	55	1	0	0	0	0	1	0	0	0	11610	875	31	1	1236	1	PCDHGB7	5	140798660	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	575396	140798660	40116600	34	6718											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacctggcggcggtgttaGagtacctgaccgccgagatc	14	11	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(169-171)Gag>Aag		histone cluster 1, H2ac							50	51	51					6																	26124629		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124629G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.169G>A	6.37:g.26124629G>A	ENSP00000473534:p.Glu57Lys					HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K	p.E57K			Q93077	H2A1C_HUMAN			1	199	+			57					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.169G>A	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	33	5.221276	0.95139	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.61742	0.08;0.08	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000401	D	0.84124	0.5403	H	0.97516	4.02	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	D	0.88700	0.3215	10	0.87932	D	0	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	57	Q93077	H2A1C_HUMAN	K	57	ENSP00000367022:E57K;ENSP00000321389:E57K	ENSP00000321389:E57K	E	+	1	0	HIST1H2AC	26232608	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.460000	0.97641	2.894000	0.99253	0.591000	0.81541	GAG		0.662	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		57	212	0	0	0	1	0	57	212					A	26124629	G	A	26124629	3	1	55	1	0	0	0	0	1	0	0	0	7160	943	33	2	171	2	HIST1H2AC	6	26124629	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		26124629	144990438	35	6719											
KHDC1L	100129128	broad.mit.edu	37	chr6	73935126	73935126	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagcactcgttcccacGgccatgctgtgctcccacct	9	17	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:73935126G>T	ENST00000370388.3	-	1	49	c.6C>A	c.(4-6)gcC>gcA	p.A2A	KHDC1L_ENST00000471312.1_5'UTR|RP11-257K9.8_ENST00000423730.3_Missense_Mutation_p.P105Q	NM_001126063.2	NP_001119535.1	Q5JSQ8	KHDCL_HUMAN	KH homology domain containing 1-like	2										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						TCGTTCCCACGGCCATGCTGT	0.532																																						ENST00000423730.3																			0											c.(313-315)cCg>cAg									73	65	68					6																	73935126		692	1591	2283	SO:0001819	synonymous_variant	0							g.chr6:73935126G>T	BC004267	CCDS47450.1	6q13	2014-05-15			ENSG00000256980	ENSG00000256980			37274	protein-coding gene	gene with protein product							Standard	NM_001126063		Approved	RP11-257K9.7	uc003pgm.4	Q5JSQ8	OTTHUMG00000132474	ENST00000370388.3:c.6C>A	6.37:g.73935126G>T						KHDC1L_ENST00000370388.3_Silent_p.A2A|KHDC1L_ENST00000471312.1_5'UTR	p.P105Q							4	749	-								E1P535	Missense_Mutation	SNP	ENST00000370388.3	37	c.314C>A	CCDS47450.1	.	.	.	.	.	.	.	.	.	.	G	6.071	0.381371	0.11466	.	.	ENSG00000256980	ENST00000370385	.	.	.	1.91	1.01	0.19927	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26916	-1.0089	5	0.87932	D	0	.	4.4396	0.11568	0.207:0.0:0.793:0.0	.	.	.	.	Q	105	.	ENSP00000359412:P105Q	P	-	2	0	RP11-257K9.7	73991847	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.979000	0.29500	0.355000	0.24131	0.205000	0.17691	CCG		0.532	KHDC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255640.1	NM_001126063		22	126	1	0	1.5548e-18	1	1.69344e-18	22	126					T	73935126	G	T	73935126	2	4	55	1	0	0	0	0	0	0	0	1	8175	1103	39	3		3	KHDC1L	6	73935126	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	47810497	73935126	97179941	36	6720											
PHIP	55023	broad.mit.edu	37	chr6	79668316	79668316	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacattagggaagaaacccGccttaaaaaaacaaaatata	5	9	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e32-1		pleckstrin homology domain interacting protein							37	38	38					6																	79668316		2203	4299	6502	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79668316G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3657-1C>T	6.37:g.79668316G>A						PHIP_ENST00000479165.1_5'UTR	p.R1220_splice	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	32	3825	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1220			Bromo 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37	c.3656_splice	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383342	0.82792	.	.	ENSG00000146247	ENST00000275034	T	0.19394	2.15	5.9	5.9	0.94986	Bromodomain (5);	0.000000	0.64402	D	0.000002	T	0.44435	0.1293	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.45833	-0.9234	9	.	.	.	-9.9537	14.1372	0.65295	0.0:0.0:0.8502:0.1498	.	1220;1220	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	1220	ENSP00000275034:R1220W	.	R	-	1	2	PHIP	79725035	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.978000	0.88095	2.793000	0.96121	0.563000	0.77884	CGG		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Missense_Mutation	6	382	0	0	0	1	0	6	382					A	79668316	G	A	79668316	5	1	55	1	0	0	0	0	0	0	1	0	11884	1101	38	1	1843	1	PHIP	6	79668316	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	5733190	79668316	91446751	37	6721											
PRDM13	59336	broad.mit.edu	37	chr6	100061933	100061933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctctacggctcaccGgccaccaccgcttattaccc	8	18	2	0	rs377013141		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369215.4	+	4	1727	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1450-1452)ccG>ccA		PR domain containing 13		G		2,3800		0,2,1899	22	25	24		1422	-0.5	0.2	6		24	0,8186		0,0,4093	no	coding-synonymous	PRDM13	NM_021620.3		0,2,5992	AA,AG,GG		0.0,0.0526,0.0167		474/708	100061933	2,11986	1901	4093	5994	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061933G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1422G>A	6.37:g.100061933G>A						PRDM13_ENST00000369215.4_Silent_p.P474P	p.P484P	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1713	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	474					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1452G>A	CCDS43487.1																																																																																				0.632	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			50	197	0	0	0	1	0	50	197					A	100061933	G	A	100061933	2	1	55	1	0	0	0	0	0	0	0	1	12501	1103	39	1		1	PRDM13	6	100061933	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	20393617	100061933	71053134	38	6722											
MAN1A1	4121	broad.mit.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	7	8	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					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.R545W(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)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193	190	191					6																	119509656		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.chr6:119509656G>A	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.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp						p.R545W	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2074	-		all_epithelial(87;0.173)	545					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1633C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		6	467	0	0	0	1	0	6	467					A	119509656	G	A	119509656	3	1	55	1	0	0	0	0	1	0	0	0	9251	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	19447723	119509656	51605411	39	6723											
LATS1	9113	broad.mit.edu	37	chr6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatggatgagcttttatttCatcagcaccattcttgccta	6	9	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3007-3009)Gaa>Taa		large tumor suppressor kinase 1							130	132	131					6																	149983251		2203	4300	6503	SO:0001587	stop_gained	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149983251C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3007G>T	6.37:g.149983251C>A	ENSP00000437550:p.Glu1003*					LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	p.E1003*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3554	-		Ovarian(120;0.0164)	1003			Protein kinase.			Nonsense_Mutation	SNP	ENST00000543571.1	37	c.3007G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.619519	0.98888	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2848	0.94066	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	.	E	-	1	0	LATS1	150024944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.562000	0.86427	0.591000	0.81541	GAA		0.408	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		115	368	1	0	7.44014e-76	1	8.37016e-76	115	368					A	149983251	C	A	149983251	4	1	55	1	0	0	0	0	0	1	0	0	8677	835	29	3	389	3	LATS1	6	149983251	Nonsense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	30473595	149983251	21131816	40	6724											
RBM16	22828	broad.mit.edu	37	chr6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-													catccaccaccccgtggaccTtttcctccaggagatatttt							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)cctfs	p.P969fs	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2905-2907)ccfs		SR-related CTD-associated factor 8							106	116	113					6																	155153620		2203	4300	6503	SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153620delT	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2907delT	6.37:g.155153620delT	ENSP00000356146:p.Pro969fs					SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs	p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3483	+			969			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Del	DEL	ENST00000367178.3	37	c.2907delT	CCDS5247.1																																																																																				0.473	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		7	831						7	831	---	---	---	---	-	155153620	T	-	155153620	7	5	55	1	0	1	0	1	0	0	0	0	13168	1596	56	0	2985	0	RBM16	6	155153620	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ3-01A-11D-A40W-08	5170369	155153620	15961447	41	6725											
EEPD1	80820	broad.mit.edu	37	chr7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtcccatagccgcaaGttcagcgcagcctgtaactt	9	14	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(67-69)aaG>aaC		endonuclease/exonuclease/phosphatase family domain containing 1							76	72	73					7																	36194002		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194002G>C	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.69G>C	7.37:g.36194002G>C	ENSP00000242108:p.Lys23Asn					EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	787	+			23					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.69G>C	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466389	0.63625	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.25250	1.81;1.81	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.10660	-1.0620	10	0.49607	T	0.09	-36.8743	10.72	0.46034	0.1452:0.0:0.8548:0.0	.	23	Q7L9B9	EEPD1_HUMAN	N	23	ENSP00000242108:K23N;ENSP00000442692:K23N	ENSP00000242108:K23N	K	+	3	2	EEPD1	36160527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.540000	0.45727	1.403000	0.46800	0.561000	0.74099	AAG		0.632	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		44	219	0	0	0	1	0	44	219					C	36194002	G	C	36194002	3	2	55	1	0	0	0	0	1	0	0	0	4948	1020	36	5	71	5	EEPD1	7	36194002	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		36194002	122944661	42	6726											
BMP1	649	broad.mit.edu	37	chr8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgcatctctgtcacacCcggggagaaggtacgtgtgg	16	10	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1066-1068)cCc>cAc		bone morphogenetic protein 1							167	143	151					8																	22037986		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037986C>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1067C>A	8.37:g.22037986C>A	ENSP00000305714:p.Pro356His					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H	p.P356H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1737	+			356			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1067C>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561849	0.65538	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.66	5.66	0.87406	CUB (5);	0.000000	0.38272	U	0.001746	T	0.45637	0.1352	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.964;0.969	D;D;P;P	0.97110	0.986;1.0;0.864;0.752	T	0.11060	-1.0603	10	0.37606	T	0.19	.	18.5112	0.90917	0.0:1.0:0.0:0.0	.	356;429;356;356	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	356	ENSP00000305714:P356H;ENSP00000380917:P356H;ENSP00000306121:P356H;ENSP00000380915:P356H	ENSP00000306121:P356H	P	+	2	0	BMP1	22093931	1.000000	0.71417	0.727000	0.30756	0.525000	0.34531	7.772000	0.85439	2.665000	0.90641	0.561000	0.74099	CCC		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		5	359	1	0	0.00116845	1	0.00118227	5	359					A	22037986	C	A	22037986	3	1	55	1	0	0	0	0	1	0	0	0	1458	623	22	3	1097	3	BMP1	8	22037986	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		22037986	124326036	43	6727											
CHMP7	91782	broad.mit.edu	37	chr8	23114047	23114047	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgttggggtgtaccagctGatgcagagtgaacagcttct	14	7	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(730-732)ctG>ctA		charged multivesicular body protein 7							266	242	250					8																	23114047		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114047G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.732G>A	8.37:g.23114047G>A						CHMP7_ENST00000313219.7_Silent_p.L244L	p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1380	+		Prostate(55;0.0513)	244					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.732G>A	CCDS6040.1																																																																																				0.517	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		6	822	0	0	0	1	0	6	822					A	23114047	G	A	23114047	2	1	55	1	0	0	0	0	0	0	0	1	3370	1277	45	2		2	CHMP7	8	23114047	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	1076061	23114047	123249975	44	6728											
PI15	51050	broad.mit.edu	37	chr8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatataaagtaggggtacCatgttcatcttgtcctccaa	7	10	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(682-684)cCa>cAa		peptidase inhibitor 15							211	190	197					8																	75761394		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761394C>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.683C>A	8.37:g.75761394C>A	ENSP00000260113:p.Pro228Gln					PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	p.P228Q	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	862	+	Breast(64;0.137)		228					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.683C>A	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692584	0.88735	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.11821	2.74;2.74	5.15	5.15	0.70609	CAP domain (1);	0.051987	0.85682	D	0.000000	T	0.48554	0.1506	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57533	-0.7795	10	0.62326	D	0.03	.	19.1672	0.93562	0.0:1.0:0.0:0.0	.	228	O43692	PI15_HUMAN	Q	228	ENSP00000260113:P228Q;ENSP00000428567:P228Q	ENSP00000260113:P228Q	P	+	2	0	PI15	75923949	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.278000	0.78587	2.833000	0.97629	0.585000	0.79938	CCA		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		109	525	1	0	7.81258e-50	1	8.67501e-50	109	525					A	75761394	C	A	75761394	3	1	55	1	0	0	0	0	1	0	0	0	11910	594	21	3	701	3	PI15	8	75761394	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	52647347	75761394	70602628	45	6729											
DERL1	79139	broad.mit.edu	37	chr8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattctgatcagcagctcGcctcatgctagcagggggca	12	13	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(685-687)Cga>Tga		derlin 1							87	73	78					8																	124027758		2203	4300	6503	SO:0001587	stop_gained	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124027758G>A	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.685C>T	8.37:g.124027758G>A	ENSP00000259512:p.Arg229*					DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*	p.R229*	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		8	985	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		229					B3KW41|E9PH19	Nonsense_Mutation	SNP	ENST00000259512.4	37	c.685C>T	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943987	0.92593	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	6.17	4.31	0.51392	.	0.060136	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.4856	0.50352	0.0:0.1048:0.6045:0.2906	.	.	.	.	X	229;209;129;129;129	.	ENSP00000259512:R229X	R	-	1	2	DERL1	124096939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.468000	0.53086	1.590000	0.49995	0.655000	0.94253	CGA		0.627	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		6	397	0	0	0	1	0	6	397					A	124027758	G	A	124027758	4	1	55	1	0	0	0	0	0	1	0	0	4462	1095	38	1	74	1	DERL1	8	124027758	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	48266364	124027758	22336264	46	6730											
OR1L1	26737	broad.mit.edu	37	chr9	125424096	125424096	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgctgtgttcctccccatCtaccttatcacagtgatagg	7	12	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I	OR1L1_ENST00000309623.1_Silent_p.I34I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(250-252)atC>atA		olfactory receptor, family 1, subfamily L, member 1							114	100	105					9																	125424096		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424096C>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.252C>A	9.37:g.125424096C>A							p.I84I			Q8NH94	OR1L1_HUMAN			1	252	+			84					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.252C>A																																																																																					0.493	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				63	270	1	0	7.10676e-39	1	7.84036e-39	63	270					A	125424096	C	A	125424096	2	1	55	1	0	0	0	0	0	0	0	1	11005	903	32	3		3	OR1L1	9	125424096	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		125424096	15789335	47	6731											
TOR1A	1861	broad.mit.edu	37	chr9	132584984	132584984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctgacgaaatttttgCcggtgcctgtccacccgtgc	10	13	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:132584984C>T	ENST00000351698.4	-	2	368	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	107	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.G107D(4)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468																																						ENST00000351698.4																			4	Substitution - Missense(4)	p.G107D(4)	kidney(3)|lung(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(319-321)gGc>gAc		torsin family 1, member A (torsin A)							226	200	209					9																	132584984		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584984C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.320G>A	9.37:g.132584984C>T	ENSP00000345719:p.Gly107Asp					TOR1A_ENST00000473084.1_5'UTR	p.G107D	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			2	368	-		Ovarian(14;0.00556)	107					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.320G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838232	0.71373	.	.	ENSG00000136827	ENST00000351698	D	0.92099	-2.97	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98397	1.0566	10	0.87932	D	0	-8.4354	17.7332	0.88384	0.0:1.0:0.0:0.0	.	107;107	O14656-2;O14656	.;TOR1A_HUMAN	D	107	ENSP00000345719:G107D	ENSP00000345719:G107D	G	-	2	0	TOR1A	131624805	1.000000	0.71417	0.995000	0.50966	0.072000	0.16883	7.484000	0.81180	2.439000	0.82584	0.561000	0.74099	GGC		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		9	753	0	0	0	1	0	9	753					T	132584984	C	T	132584984	3	4	55	1	0	0	0	0	1	0	0	0	16424	739	26	2	694	2	TOR1A	9	132584984	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	7160888	132584984	8628447	48	6732											
BAT2L1	84726	broad.mit.edu	37	chr9	134351251	134351251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcccttccgacacatgCggatcccggcgacctacaga	10	15	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:134351251C>T	ENST00000357304.4	+	15	3790	c.3735C>T	c.(3733-3735)tgC>tgT	p.C1245C	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	1245							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGACACATGCGGATCCCGGC	0.592											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3733-3735)tgC>tgT		proline-rich coiled-coil 2B							40	44	43					9																	134351251		2073	4214	6287	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351251C>T	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.3735C>T	9.37:g.134351251C>T			OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	p.C1245C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3790	+			1245					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3735C>T	CCDS48044.1																																																																																				0.592	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	133	0	0	0	1	0	5	133					T	134351251	C	T	134351251	2	4	55	1	0	0	0	0	0	0	0	1	1321	776	27	1		1	BAT2L1	9	134351251	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	1766267	134351251	6862180	49	6733											
PCDH15	65217	broad.mit.edu	37	chr10	56077158	56077160	+	In_Frame_Del	DEL	GTG	GTG	-													ccagaacatccactgtgagaGtggtggtggtggttcgcctc							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:56077158_56077160delGTG	ENST00000320301.6	-	8	1141_1143	c.747_749delCAC	c.(745-750)accact>act	p.249_250TT>T	PCDH15_ENST00000373965.2_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395442.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395446.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395430.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395445.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395433.1_In_Frame_Del_p.227_228TT>T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395438.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000373955.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000414778.1_In_Frame_Del_p.254_255TT>T|PCDH15_ENST00000437009.1_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000361849.3_In_Frame_Del_p.249_250TT>T|PCDH15_ENST00000395432.2_In_Frame_Del_p.212_213TT>T|PCDH15_ENST00000373957.3_In_Frame_Del_p.227_228TT>T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	249	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T250N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGTGAGAGTGGTGGTGGTGG	0.463										HNSCC(58;0.16)																												ENST00000373965.2																			1	Substitution - Missense(1)	p.T250N(1)	ovary(1)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(745-750)act>ac		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56077158_56077160delGTG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.747_749delCAC	10.37:g.56077167_56077169delGTG	ENSP00000322604:p.Thr250del	HNSCC(58;0.16)				PCDH15_ENST00000320301.6_In_Frame_Del_p.TT249del|PCDH15_ENST00000373955.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000437009.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395438.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000373957.3_In_Frame_Del_p.TT227del|PCDH15_ENST00000361849.3_In_Frame_Del_p.TT249del|PCDH15_ENST00000395446.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000414778.1_In_Frame_Del_p.TT254del|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395445.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395432.2_In_Frame_Del_p.TT212del|PCDH15_ENST00000395440.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395442.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395433.1_In_Frame_Del_p.TT227del	p.TT249del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1141_1143	-		Melanoma(3;0.117)|Lung SC(717;0.238)	249			Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.747_749delCAC	CCDS7248.1																																																																																				0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	702						7	702	---	---	---	---	-	56077160	GTG	-	56077158	7	5	55	1	0	1	0	1	0	0	0	0	11553	1029	36	0	6866	0	PCDH15	10	56077158	In_Frame_Del	DEL	GTG	TCGA-FB-AAQ3-01A-11D-A40W-08		56077158	79457589	50	6734											
HPSE2	60495	broad.mit.edu	37	chr10	100503755	100503755	+	Frame_Shift_Del	DEL	A	A	-													cgacgcagtgcatttagagcAaatatcaggtggagtccaga							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:100503755delA	ENST00000370552.3	-	4	728	c.669delT	c.(667-669)tttfs	p.F223fs	HPSE2_ENST00000370546.1_Frame_Shift_Del_p.F223fs|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	223					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTTAGAGCAAATATCAGGT	0.428																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(667-669)ttfs		heparanase 2							98	94	96					10																	100503755		2203	4300	6503	SO:0001589	frameshift_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100503755delA	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.669delT	10.37:g.100503755delA	ENSP00000359583:p.Phe223fs					HPSE2_ENST00000370546.1_Frame_Shift_Del_p.F223fs|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron	p.F223fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	4	728	-			223					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Frame_Shift_Del	DEL	ENST00000370552.3	37	c.669delT	CCDS7477.1																																																																																				0.428	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		72	286						72	286	---	---	---	---	-	100503755	A	-	100503755	7	5	55	1	0	1	0	1	0	0	0	0	7375	127	5	0	1183	0	HPSE2	10	100503755	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ3-01A-11D-A40W-08	44426597	100503755	35030992	51	6735											
PPRC1	23082	broad.mit.edu	37	chr10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccctgttctagctggcCctgtacctgttgaccctggg	12	13	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1810-1812)Cct>Tct		peroxisome proliferator-activated receptor gamma, coactivator-related 1							140	118	125					10																	103900075		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900075C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1810C>T	10.37:g.103900075C>T	ENSP00000278070:p.Pro604Ser					PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1849	+		Colorectal(252;0.122)	604					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1810C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971154	0.53614	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.33438	1.41;1.41	4.3	-1.15	0.09709	.	0.231155	0.22393	N	0.060651	T	0.12135	0.0295	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.12156	0.003;0.007;0.003	T	0.13229	-1.0517	10	0.19147	T	0.46	.	0.2406	0.00191	0.2904:0.289:0.1519:0.2687	.	604;484;604	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	604	ENSP00000278070:P604S;ENSP00000399743:P604S	ENSP00000278070:P604S	P	+	1	0	PPRC1	103890065	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.480000	0.06559	-0.177000	0.10690	0.561000	0.74099	CCT		0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	378	0	0	0	1	0	5	378					T	103900075	C	T	103900075	3	4	55	1	0	0	0	0	1	0	0	0	12457	623	22	2	1828	2	PPRC1	10	103900075	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	3396320	103900075	31634672	52	6736											
DOCK1	1793	broad.mit.edu	37	chr10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccatgcagctgacgaacGacaagatcaacagcatggtg	11	10	1	3	rs369052092		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4504-4506)Gac>Aac		dedicator of cytokinesis 1		G	ASN/ASP	1,4397	2.1+/-5.4	0,1,2198	62	74	70		4459	4.8	1	10		70	0,8600		0,0,4300	no	missense	DOCK1	NM_001380.3	23	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1487/1851	129216680	1,12997	2199	4300	6499	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129216680G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4504G>A	10.37:g.129216680G>A	ENSP00000280333:p.Asp1502Asn						p.D1502N	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	45	4613	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1502			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4504G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999692	0.74818	2.27E-4	0.0	ENSG00000150760	ENST00000280333	T	0.16897	2.31	4.8	4.8	0.61643	.	0.060595	0.64402	D	0.000002	T	0.15782	0.0380	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48834	0.36;0.567;0.916	B;B;P	0.46320	0.22;0.09;0.512	T	0.04811	-1.0925	10	0.51188	T	0.08	.	18.0621	0.89380	0.0:0.0:1.0:0.0	.	1502;1568;1502	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	N	1502	ENSP00000280333:D1502N	ENSP00000280333:D1502N	D	+	1	0	DOCK1	129106670	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	9.595000	0.98260	2.492000	0.84095	0.555000	0.69702	GAC		0.587	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		34	135	0	0	0	1	0	34	135					A	129216680	G	A	129216680	3	1	55	1	0	0	0	0	1	0	0	0	4700	1058	37	1	4682	1	DOCK1	10	129216680	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	25316605	129216680	6318067	53	6737											
OR52R1	119695	broad.mit.edu	37	chr11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctctcaaaatcatcaCgtatgacataccaatgacaa	4	12	3	2	rs200440576		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000356069.2	-	1	663	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V301M	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(901-903)Gtg>Atg		olfactory receptor, family 52, subfamily R, member 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	91	77	82		664	-1.2	0.8	11		82	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52R1	NM_001005177.3	21	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign	222/316	4824947	2,12996	2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824947C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.664G>A	11.37:g.4824947C>T	ENSP00000348368:p.Val222Met					OR52R1_ENST00000356069.2_Missense_Mutation_p.V222M|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V301M			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	900	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	222					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.901G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	5.145	0.212274	0.09757	2.27E-4	1.16E-4	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00265	8.39;8.39	5.57	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	0.599214	0.14194	N	0.335121	T	0.00210	0.0006	L	0.54908	1.71	0.09310	N	1	B	0.33919	0.432	B	0.36134	0.218	T	0.26292	-1.0107	10	0.54805	T	0.06	.	11.3854	0.49782	0.0:0.482:0.0:0.518	.	222	Q8NGF1	O52R1_HUMAN	M	222;301	ENSP00000348368:V222M;ENSP00000369742:V301M	ENSP00000348368:V222M	V	-	1	0	OR52R1	4781523	0.000000	0.05858	0.813000	0.32504	0.024000	0.10985	-2.137000	0.01304	-0.109000	0.12044	-1.314000	0.01303	GTG		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		5	234	0	0	0	1	0	5	234					T	4824947	C	T	4824947	3	4	55	1	0	0	0	0	1	0	0	0	11173	536	19	1	286	1	OR52R1	11	4824947	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		4824947	130181569	54	6738											
OR5P2	120065	broad.mit.edu	37	chr11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagccagaaggacgcattCgactgttgcaaagaaagccg	13	10	0	2	rs569926953|rs147652902	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																						ENST00000329434.2																			1	Substitution - Missense(1)	p.E107K(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(319-321)Gaa>Aaa		olfactory receptor, family 5, subfamily P, member 2		C	LYS/GLU	2,4206		0,2,2102	97	113	108		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818171C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	11.37:g.7818171C>T	ENSP00000331823:p.Glu107Lys					RP11-35J10.5_ENST00000527565.1_lincRNA	p.E107K	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	349	-			107					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.319G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	OR5P2	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		101	426	0	0	0	1	0	101	426					T	7818171	C	T	7818171	3	4	55	1	0	0	0	0	1	0	0	0	11220	893	31	1	653	1	OR5P2	11	7818171	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	2993224	7818171	127188345	55	6739											
SLC22A11	55867	broad.mit.edu	37	chr11	64337198	64337198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgatcctgatgagccGccaagccctgcccctgctgc	9	19	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64337198G>A	ENST00000301891.4	+	9	1831	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	486					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CTGATGAGCCGCCAAGCCCTG	0.612																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1456-1458)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						113	111	111					11																	64337198		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64337198G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1457G>A	11.37:g.64337198G>A	ENSP00000301891:p.Arg486His					SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	p.R486H	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			9	1831	+			486					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1457G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544688	0.45280	.	.	ENSG00000168065	ENST00000301891;ENST00000377585	T;T	0.58797	0.31;0.31	3.49	0.46	0.16684	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.561891	0.16643	N	0.205556	T	0.45357	0.1338	M	0.64170	1.965	0.09310	N	1	B;P	0.36837	0.107;0.571	B;B	0.28553	0.009;0.091	T	0.30592	-0.9973	10	0.48119	T	0.1	.	7.0642	0.25143	0.3298:0.0:0.6702:0.0	.	378;486	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	H	486;378	ENSP00000301891:R486H;ENSP00000366809:R378H	ENSP00000301891:R486H	R	+	2	0	SLC22A11	64093774	0.007000	0.16637	0.000000	0.03702	0.238000	0.25445	1.579000	0.36536	-0.000000	0.14550	0.485000	0.47835	CGC		0.612	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		6	451	0	0	0	1	0	6	451					A	64337198	G	A	64337198	3	1	55	1	0	0	0	0	1	0	0	0	14492	1087	38	1	1491	1	SLC22A11	11	64337198	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	56519027	64337198	70669318	56	6740											
TAS2R19	259294	broad.mit.edu	37	chr12	11175073	11175073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgtgttaacccagtcaAtgacatttactagggctatg	9	8	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:11175073A>T	ENST00000390673.2	-	1	146	c.98T>A	c.(97-99)aTt>aAt	p.I33N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	33					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AACCCAGTCAATGACATTTAC	0.413																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(97-99)aTt>aAt		taste receptor, type 2, member 19							89	85	86					12																	11175073		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175073A>T	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.98T>A	12.37:g.11175073A>T	ENSP00000375091:p.Ile33Asn					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I33N	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	146	-			33					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.98T>A	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253240	0.22965	.	.	ENSG00000212124	ENST00000390673	T	0.37584	1.19	2.45	-0.701	0.11269	.	1.106060	0.07022	N	0.826990	T	0.45054	0.1323	M	0.86097	2.795	0.09310	N	1	B	0.31318	0.319	B	0.39935	0.314	T	0.51284	-0.8725	10	0.66056	D	0.02	.	3.0858	0.06277	0.6511:0.0:0.1397:0.2092	.	33	P59542	T2R19_HUMAN	N	33	ENSP00000375091:I33N	ENSP00000375091:I33N	I	-	2	0	TAS2R19	11066340	0.000000	0.05858	0.004000	0.12327	0.131000	0.20780	-0.485000	0.06520	-0.271000	0.09272	0.163000	0.16589	ATT		0.413	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		7	297	0	0	0	1	0	7	297					T	11175073	A	T	11175073	3	4	55	1	0	0	0	0	1	0	0	0	15622	101	4	5	804	5	TAS2R19	12	11175073	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08		11175073	122676822	57	6741											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		30	186	0	0	0	1	0	30	186					T	25398284	C	T	25398284	3	4	55	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	14223211	25398284	108453611	58	6742											
WNT10B	7480	broad.mit.edu	37	chr12	49360058	49360058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgttgcaggcccggccCcttgtccctggggagcccat	13	15	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					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)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642																																						ENST00000301061.4																			0				central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						c.(988-990)agG>agA		wingless-type MMTV integration site family, member 10B							31	33	32					12																	49360058		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:49360058C>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.990G>A	12.37:g.49360058C>T						WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	p.R330R	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN			5	1338	-			330					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.990G>A	CCDS8775.1																																																																																				0.642	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		37	149	0	0	0	1	0	37	149					T	49360058	C	T	49360058	2	4	55	1	0	0	0	0	0	0	0	1	17437	622	22	2		2	WNT10B	12	49360058	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	23961774	49360058	84491837	59	6743											
C12orf64	283310	broad.mit.edu	37	chr12	80651774	80651774	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaatggcaacataagggaTgattttctgtaagtatgatt	9	3	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:80651774T>A	ENST00000547103.1	+	17	1860	c.1854T>A	c.(1852-1854)gaT>gaA	p.D618E	OTOGL_ENST00000458043.2_Missense_Mutation_p.D618E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	618	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATAAGGGATGATTTTCTGT	0.308																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1852-1854)gaT>gaA		otogelin-like							135	133	133					12																	80651774		1861	4090	5951	SO:0001583	missense	283310							g.chr12:80651774T>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1854T>A	12.37:g.80651774T>A	ENSP00000447211:p.Asp618Glu					OTOGL_ENST00000547103.1_Missense_Mutation_p.D618E	p.D618E	NM_173591.3	NP_775862.3					17	1860	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1854T>A		.	.	.	.	.	.	.	.	.	.	T	21.0	4.078578	0.76528	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.65364	-0.15;-0.15	5.54	3.21	0.36854	.	.	.	.	.	D	0.84065	0.5390	H	0.97918	4.105	0.51767	D	0.999938	.	.	.	.	.	.	D	0.86287	0.1671	7	0.87932	D	0	.	9.3717	0.38258	0.0:0.1444:0.0:0.8556	.	.	.	.	E	618	ENSP00000447211:D618E;ENSP00000400895:D618E	ENSP00000400895:D618E	D	+	3	2	OTOGL	79175905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.562000	0.45914	0.944000	0.37579	0.533000	0.62120	GAT		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		30	119	0	0	0	1	0	30	119					A	80651774	T	A	80651774	3	1	55	1	0	0	0	0	1	0	0	0	1712	1461	51	5	1920	5	C12orf64	12	80651774	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	31291716	80651774	53200121	60	6744											
PPFIA2	8499	broad.mit.edu	37	chr12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aattctttcttccatatcttCcttttgtgccatggcctaca	4	12	3	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000549396.1	-	10	1160	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000550584.2_Missense_Mutation_p.E334Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	334	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1000-1002)Gaa>Caa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							174	159	163					12																	81769706		1855	4130	5985	SO:0001583	missense	8499							g.chr12:81769706C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1000G>C	12.37:g.81769706C>G	ENSP00000450337:p.Glu334Gln					PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q	p.E334Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			9	1295	-			260					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1000G>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.853780|4.853780	0.91355|0.91355	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.78246|.	1.25;1.25;1.25;-1.16;1.25;1.25;1.25|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	D;P|.	0.61080|.	0.989;0.9|.	D;B|.	0.72982|.	0.979;0.38|.	T|T	0.76369|0.76369	-0.2984|-0.2984	10|5	0.52906|.	T|.	0.07|.	-17.607|-17.607	19.0352|19.0352	0.92974|0.92974	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234;334|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	Q|S	334;316;260;345;316;334;235;334|151	ENSP00000450337:E334Q;ENSP00000450298:E316Q;ENSP00000385093:E260Q;ENSP00000327416:E316Q;ENSP00000449338:E334Q;ENSP00000388373:E235Q;ENSP00000447868:E334Q|.	ENSP00000327416:E316Q|.	E|R	-|-	1|3	0|2	PPFIA2|PPFIA2	80293837|80293837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.765000|7.765000	0.85310|0.85310	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	GAA|AGG		0.308	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			21	252	0	0	0	1	0	21	252					G	81769706	C	G	81769706	3	3	55	1	0	0	0	0	1	0	0	0	12352	864	30	5	2865	5	PPFIA2	12	81769706	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	1117932	81769706	52082189	61	6745											
C12orf26	84190	broad.mit.edu	37	chr12	82752352	82752352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgagcgtcatggcggCttcttgccctctcccggtga	15	12	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:82752352C>T	ENST00000248306.3	+	1	77	c.8C>T	c.(7-9)gCt>gTt	p.A3V	CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	3							methyltransferase activity (GO:0008168)										GTCATGGCGGCTTCTTGCCCT	0.637											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3																			0											c.(7-9)gCt>gTt		methyltransferase like 25							36	32	34					12																	82752352		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82752352C>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.8C>T	12.37:g.82752352C>T	ENSP00000248306:p.Ala3Val		OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1216	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	p.A3V	NM_032230.2	NP_115606.2					1	77	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.8C>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650798	0.67472	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.34472	1.36	5.22	5.22	0.72569	.	0.309791	0.30859	N	0.008727	T	0.42966	0.1226	M	0.77616	2.38	0.32731	N	0.509011	B	0.30793	0.295	B	0.32211	0.142	T	0.59209	-0.7497	10	0.54805	T	0.06	-8.6604	14.2838	0.66232	0.0:1.0:0.0:0.0	.	3	Q8N6Q8	CL026_HUMAN	V	3	ENSP00000248306:A3V	ENSP00000248306:A3V	A	+	2	0	C12orf26	81276483	0.824000	0.29247	0.929000	0.37066	0.134000	0.20937	1.580000	0.36547	2.436000	0.82500	0.650000	0.86243	GCT		0.637	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		17	118	0	0	0	1	0	17	118					T	82752352	C	T	82752352	3	4	55	1	0	0	0	0	1	0	0	0	1684	797	28	2	10	2	C12orf26	12	82752352	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	982646	82752352	51099543	62	6746											
PLXNC1	10154	broad.mit.edu	37	chr12	94658986	94658986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgttgtggcaggttccGgaattcagtactgtggtatg	15	6	1	0	rs545463488		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3580-3582)ccG>ccT		plexin C1							143	153	149					12																	94658986		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658986G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3582G>T	12.37:g.94658986G>T						PLXNC1_ENST00000547057.1_Silent_p.P241P|PLXNC1_ENST00000545312.1_5'UTR	p.P1194P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			21	3831	+			1194					Q59H25	Silent	SNP	ENST00000258526.4	37	c.3582G>T	CCDS9049.1																																																																																				0.453	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			131	681	1	0	2.47456e-63	1	2.76569e-63	131	681					T	94658986	G	T	94658986	2	4	55	1	0	0	0	0	0	0	0	1	12168	1103	39	3		3	PLXNC1	12	94658986	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	11906634	94658986	39192909	63	6747											
MED13L	23389	broad.mit.edu	37	chr12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgcaggaagccaaaagCcagcgctggtcgtgagacag	14	10	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5512-5514)tgG>tgT		mediator complex subunit 13-like							94	88	90					12																	116413394		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413394C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5514G>T	12.37:g.116413394C>A	ENSP00000281928:p.Trp1838Cys						p.W1838C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	24	5720	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1838					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5514G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652595|4.652595	0.88056|0.88056	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.98400	.|-4.91	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	-8.283|-8.283	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1838	.|Q71F56	.|MD13L_HUMAN	S|C	31|1838	.|ENSP00000281928:W1838C	.|ENSP00000281928:W1838C	A|W	-|-	1|3	0|0	MED13L|MED13L	114897777|114897777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|TGG		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			29	209	1	0	1.08312e-15	1	1.17224e-15	29	209					A	116413394	C	A	116413394	3	1	55	1	0	0	0	0	1	0	0	0	9472	740	26	3	1150	3	MED13L	12	116413394	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	21754408	116413394	17438501	64	6748											
FZD10	11211	broad.mit.edu	37	chr12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcatggacgtcaacGcgctcaccggcttcgtgctc	13	14	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000229030.4	+	1	1661	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R360H			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																																						ENST00000539839.1																			1	Substitution - Missense(1)	p.A393S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1078-1080)cGc>cAc		frizzled family receptor 10							119	108	112					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>A	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>A	12.37:g.130648664G>A	ENSP00000229030:p.Ala393Thr					FZD10_ENST00000229030.4_Missense_Mutation_p.A393T	p.R360H	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1661	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1079G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.790730|2.790730	0.50102|0.50102	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82526|.	-1.62|.	5.21|5.21	5.21|5.21	0.72293|0.72293	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.82549|0.82549	0.5061|0.5061	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	D|D	0.85526|0.85526	0.1206|0.1206	10|6	0.48119|0.87932	T|D	0.1|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|.	T|H	393|360	ENSP00000229030:A393T|.	ENSP00000229030:A393T|ENSP00000438460:R360H	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		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				52	266	0	0	0	1	0	52	266					A	130648664	G	A	130648664	3	1	55	1	0	0	0	0	1	0	0	0	6156	1087	38	1	1179	1	FZD10	12	130648664	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	14235270	130648664	3203231	65	6749											
LTB4R2	27141	broad.mit.edu	37	chr14	24779887	24779887	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgtcggtctgctaccGtcccccagggaacgagacac	12	13	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|LTB4R_ENST00000345363.3_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|CIDEB_ENST00000554411.1_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H|CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662																																						ENST00000336557.5																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7								cell death-inducing DFFA-like effector b							58	52	54					14																	24779887		2203	4300	6503			27141				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		g.chr14:24779887G>A	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.-589C>T	14.37:g.24779887G>A						LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H				Q9UHD4	CIDEB_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	0	714	-								D3DS73|Q546V8|Q9NNW9	Translation_Start_Site	SNP	ENST00000336557.5	37		CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033641	0.54896	.	.	ENSG00000213906	ENST00000527924;ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T;T	0.78246	-1.16;1.2;-0.33;-0.33;-0.33	5.26	3.08	0.35506	.	1.634670	0.03830	U	0.268870	T	0.65533	0.2700	N	0.19112	0.55	0.25938	N	0.982902	B	0.28208	0.203	B	0.17098	0.017	T	0.56092	-0.8036	10	0.48119	T	0.1	.	8.2552	0.31751	0.2082:0.0:0.7918:0.0	.	37	Q9NPC1	LT4R2_HUMAN	H	6;37;6;6;6	ENSP00000436668:R6H;ENSP00000432146:R37H;ENSP00000433290:R6H;ENSP00000445772:R6H;ENSP00000434760:R6H	ENSP00000337731:R37H	R	+	2	0	LTB4R2	23849727	0.000000	0.05858	0.423000	0.26634	0.986000	0.74619	-0.139000	0.10358	1.232000	0.43678	0.561000	0.74099	CGT		0.662	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			9	239	0	0	0	1	0	9	239					A	24779887	G	A	24779887	1	1	55	1	0	1	0	0	0	0	0	0	9110	1145	40	1		1	LTB4R2	14	24779887	De_novo_Start_OutOfFrame	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		24779887	82569653	66	6750											
EML1	2009	broad.mit.edu	37	chr14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgccactctctgggacGctgtgggtcaccgtcccgtc	12	15	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000334192.4_Missense_Mutation_p.A591T|EML1_ENST00000327921.9_Missense_Mutation_p.A560T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1714-1716)Gct>Act		echinoderm microtubule associated protein like 1							70	61	64					14																	100380996		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100380996G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1714G>A	14.37:g.100380996G>A	ENSP00000262233:p.Ala572Thr					EML1_ENST00000334192.4_Missense_Mutation_p.A591T|EML1_ENST00000327921.9_Missense_Mutation_p.A560T	p.A572T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			15	1853	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	572					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1714G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334759	0.81801	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.39229	1.09;1.09;1.09	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.050391	0.85682	D	0.000000	T	0.39200	0.1069	N	0.15975	0.35	0.58432	D	0.999998	D;B;D	0.61697	0.961;0.089;0.99	B;B;P	0.50970	0.371;0.006;0.655	T	0.32719	-0.9896	10	0.41790	T	0.15	-19.4889	18.6177	0.91308	0.0:0.0:1.0:0.0	.	560;572;591	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	T	560;572;591;591	ENSP00000327384:A560T;ENSP00000262233:A572T;ENSP00000334314:A591T	ENSP00000262233:A572T	A	+	1	0	EML1	99450749	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.708000	0.61859	2.396000	0.81511	0.655000	0.94253	GCT		0.453	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		24	100	0	0	0	1	0	24	100					A	100380996	G	A	100380996	3	1	55	1	0	0	0	0	1	0	0	0	5114	1087	38	1	1833	1	EML1	14	100380996	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	75601109	100380996	6968544	67	6751											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	15	9	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122	132	129					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		6	948	0	0	0	1	0	6	948					A	103174893	G	A	103174893	3	1	55	1	0	0	0	0	1	0	0	0	13232	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	2793897	103174893	4174647	68	6752											
MKRN3	7681	broad.mit.edu	37	chr15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtcgctattcgcacgacCtttctggtcggaagatggcc	11	12	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(361-363)Ctt>Att		makorin ring finger protein 3							56	58	57					15																	23811290		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811290C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.361C>A	15.37:g.23811290C>A	ENSP00000313881:p.Leu121Ile					MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.L121I	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	837	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	121						Missense_Mutation	SNP	ENST00000314520.3	37	c.361C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208879	0.79240	.	.	ENSG00000179455	ENST00000314520	T	0.35236	1.32	3.94	2.05	0.26809	Zinc finger, CCCH-type (2);	0.280449	0.29451	N	0.012115	T	0.26484	0.0647	L	0.47016	1.485	0.47245	D	0.999361	B	0.26935	0.164	B	0.23852	0.049	T	0.09400	-1.0676	10	0.59425	D	0.04	.	4.7645	0.13125	0.2134:0.6766:0.0:0.1099	.	121	Q13064	MKRN3_HUMAN	I	121	ENSP00000313881:L121I	ENSP00000313881:L121I	L	+	1	0	MKRN3	21362383	0.221000	0.23642	0.010000	0.14722	0.327000	0.28475	1.320000	0.33666	0.631000	0.30412	0.563000	0.77884	CTT		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	276	1	0	0.000157383	1	0.000160194	7	276					A	23811290	C	A	23811290	3	1	55	1	0	0	0	0	1	0	0	0	9649	681	24	3	363	3	MKRN3	15	23811290	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		23811290	78720102	69	6753											
APBA2	321	broad.mit.edu	37	chr15	29347038	29347038	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagtggccccacgagcaGgtaggaccctggctgtcctg	14	13	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951G>T	c.(949-951)caG>caT	p.Q317H	APBA2_ENST00000561069.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.e5+1		amyloid beta (A4) precursor protein-binding, family A, member 2							12	15	14					15																	29347038		2168	4226	6394	SO:0001630	splice_region_variant	321				nervous system development|protein transport		protein binding	g.chr15:29347038G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.951+1G>T	15.37:g.29347038G>T						APBA2_ENST00000411764.1_Splice_Site_p.Q317_splice|APBA2_ENST00000558259.1_Splice_Site_p.Q317_splice|APBA2_ENST00000561069.1_Splice_Site_p.Q317_splice|APBA2_ENST00000558330.1_Splice_Site_p.Q317_splice	p.Q317_splice			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1550	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	317					E9PGI4|O60571|Q5XKC0	Splice_Site	SNP	ENST00000558402.1	37	c.951_splice	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044513	0.36085	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.31247	1.5	5.24	5.24	0.73138	.	0.130714	0.51477	D	0.000095	T	0.37046	0.0989	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.43662	0.814;0.668;0.814	B;B;B	0.40477	0.33;0.186;0.33	T	0.29731	-1.0002	10	0.46703	T	0.11	.	17.8166	0.88637	0.0:0.0:1.0:0.0	.	317;317;317	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	H	317	ENSP00000409312:Q317H	ENSP00000219865:Q317H	Q	+	3	2	APBA2	27134330	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.205000	0.77881	2.422000	0.82143	0.650000	0.86243	CAG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	Missense_Mutation	10	68	1	0	1.08611e-07	1	1.14645e-07	10	68					T	29347038	G	T	29347038	5	4	55	1	0	0	0	0	0	0	1	0	757	1014	35	3	953	3	APBA2	15	29347038	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	5535748	29347038	73184354	70	6754											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		9	1279	0	0	0	1	0	9	1279					T	3293588	C	T	3293588	2	4	55	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		3293588	87061165	71	6755											
ZNF500	26048	broad.mit.edu	37	chr16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcacaatcaggatcTcttcctgttccaggtcctgc	6	16	3	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(61-63)gAg>gTg		zinc finger protein 500							65	58	60					16																	4815918		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815918T>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.62A>T	16.37:g.4815918T>A	ENSP00000219478:p.Glu21Val					ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V	p.E21V			O60304	ZN500_HUMAN			2	361	-			21					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.62A>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357740	0.41801	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07688	3.25;3.17	4.32	3.22	0.36961	.	.	.	.	.	T	0.15176	0.0366	M	0.80982	2.52	0.24263	N	0.995279	P;P	0.52316	0.952;0.952	P;P	0.45998	0.5;0.5	T	0.15435	-1.0437	9	0.72032	D	0.01	.	6.5932	0.22658	0.0:0.1129:0.0:0.8871	.	21;21	B4DNN9;O60304	.;ZN500_HUMAN	V	21	ENSP00000445714:E21V;ENSP00000219478:E21V	ENSP00000219478:E21V	E	-	2	0	ZNF500	4755919	0.130000	0.22417	0.709000	0.30452	0.828000	0.46876	0.360000	0.20250	0.540000	0.28808	0.533000	0.62120	GAG		0.602	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		11	361	0	0	0	1	0	11	361					A	4815918	T	A	4815918	3	1	55	1	0	0	0	0	1	0	0	0	18001	1551	54	5	1400	5	ZNF500	16	4815918	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	1522330	4815918	85538835	72	6756											
PDXDC1	23042	broad.mit.edu	37	chr16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcatttgcagagtcaaCggttgcaggaaagtttgaag	12	5	2	2	rs541688833		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGAGTCAACGGTTGCAGGA	0.368																																						ENST00000396410.4																			1	Substitution - Missense(1)	p.R366W(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cgg>Tgg		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						154	136	142					16																	15116567		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15116567C>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1096C>T	16.37:g.15116567C>T	ENSP00000379691:p.Arg366Trp					PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W	p.R366W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			13	1193	+			366					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1096C>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292476	0.59976	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.96	1.5	0.22942	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.50922	0.1644	L	0.60455	1.87	0.29252	N	0.871901	D;D;D;D;D;D	0.71674	0.994;0.994;0.998;0.994;0.994;0.998	P;P;P;P;P;P	0.57776	0.614;0.724;0.719;0.724;0.614;0.827	T	0.51482	-0.8700	10	0.39692	T	0.17	-20.2729	12.2124	0.54388	0.7045:0.2955:0.0:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	W	351;275;366;366;338;72;343	ENSP00000322807:R351W;ENSP00000400310:R275W;ENSP00000437835:R366W;ENSP00000379691:R366W;ENSP00000391147:R338W;ENSP00000406703:R343W	ENSP00000322807:R351W	R	+	1	2	PDXDC1	15024068	0.814000	0.29104	0.092000	0.20876	0.975000	0.68041	1.446000	0.35090	0.452000	0.26830	0.478000	0.44815	CGG		0.368	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		5	252	0	0	0	1	0	5	252					T	15116567	C	T	15116567	3	4	55	1	0	0	0	0	1	0	0	0	11738	527	19	1	1146	1	PDXDC1	16	15116567	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	10300649	15116567	75238186	73	6757											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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)			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						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				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						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		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.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		9	1241						9	1241	---	---	---	---	-	20370702	CCA	-	20370700	7	5	55	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-FB-AAQ3-01A-11D-A40W-08	5254133	20370700	69984053	74	6758											
ERN2	5347	broad.mit.edu	37	chr16	23702206	23702206	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgagtctggcgggtaGtagggcaggaagaggctctc	17	9	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:23702206G>C	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*|ERN2_ENST00000256797.4_Nonsense_Mutation_p.Y957*|CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCGGGTAGTAGGGCAGGA	0.632																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2869-2871)taC>taG		endoplasmic reticulum to nucleus signaling 2							49	49	49					16																	23702206		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702206G>C		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702206G>C						ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*	p.Y957*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	3039	-			909					Q15153|Q99746	Nonsense_Mutation	SNP	ENST00000300093.4	37	c.2871C>G	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446653	0.96205	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	.	.	.	5.22	3.27	0.37495	.	0.137924	0.50627	D	0.000116	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7745	0.40609	0.1703:0.0:0.8297:0.0	.	.	.	.	X	957;857	.	ENSP00000256797:Y957X	Y	-	3	2	ERN2	23609707	1.000000	0.71417	0.993000	0.49108	0.372000	0.29890	2.117000	0.41939	0.703000	0.31848	0.561000	0.74099	TAC		0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		26	157	0	0	0	1	0	26	157					C	23702206	G	C	23702206	1	2	55	0	1	0	0	0	0	0	0	0	5256	1024	36	5		5	ERN2	16	23702206	IGR	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	3331506	23702206	66652547	75	6759											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	247						7	247	---	---	---	---	-	69726422	CAG	-	69726420	7	5	55	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-FB-AAQ3-01A-11D-A40W-08	46024214	69726420	20628333	76	6760											
TP53	7157	broad.mit.edu	37	chr17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G													atctgagcagcgctcatggtINSgggggcagcgcctcacaacc							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:7578397_7578398insG	ENST00000269305.4	-	5	721_722	c.532_533insC	c.(532-534)cacfs	p.H178fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCGCTCATGGTGGGGGCAGCGC	0.644		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)	ENST00000420246.2		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"		107	Deletion - Frameshift(38)|Substitution - Missense(27)|Deletion - In frame(26)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(23)|breast(14)|upper_aerodigestive_tract(11)|ovary(9)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|endometrium(6)|skin(6)|oesophagus(5)|bone(5)|lung(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|biliary_tract(1)|urinary_tract(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	GRCh37	CD983489	TP53	D	rs68130327	c.(532-534)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578397_7578398insG	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.533dupC	17.37:g.7578402_7578402dupG	ENSP00000269305:p.His178fs	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_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	664_665	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.532_533insC	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	201						58	201	---	---	---	---	G	7578398	-	G	7578397	7	5	55	1	0	1	1	0	0	0	0	0	16434	1696	59	0	765	0	TP53	17	7578397	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08		7578397	73616813	77	6761											
C17orf42	79736	broad.mit.edu	37	chr17	29226555	29226555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaaacagagatgagttctGaatggaaagtcctgtttttt	11	4	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:29226555G>A	ENST00000581216.1	-	4	1336	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	239					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GATGAGTTCTGAATGGAAAGT	0.348																																						ENST00000581216.1																			0											c.(715-717)Cag>Tag		transcription elongation factor, mitochondrial							89	90	90					17																	29226555		1826	4081	5907	SO:0001587	stop_gained	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29226555G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.715C>T	17.37:g.29226555G>A	ENSP00000462963:p.Gln239*					TEFM_ENST00000580840.1_3'UTR	p.Q239*	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN			4	1336	-			239					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Nonsense_Mutation	SNP	ENST00000581216.1	37	c.715C>T	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	G	42	9.191115	0.99094	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.1159	13.3771	0.60745	0.0751:0.0:0.9249:0.0	.	.	.	.	X	239	.	ENSP00000306574:Q239X	Q	-	1	0	C17orf42	26250681	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	4.385000	0.59613	2.880000	0.98712	0.650000	0.86243	CAG		0.348	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		93	562	0	0	0	1	0	93	562					A	29226555	G	A	29226555	4	1	55	1	0	0	0	0	0	1	0	0	1862	1299	45	2	371	2	C17orf42	17	29226555	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	21648158	29226555	51968655	78	6762											
SYNRG	11276	broad.mit.edu	37	chr17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcacataccttgagggggtCttatcccacctgcaacagga	9	13	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(106-108)aGa>aCa		synergin, gamma							49	49	49					17																	35960421		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35960421C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.107G>C	17.37:g.35960421C>G	ENSP00000343610:p.Arg36Thr					SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T	p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			2	247	-			36					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.107G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098767	0.56183	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.46451	1.46;1.46;0.87;0.87;0.87	5.4	5.4	0.78164	.	0.171371	0.51477	D	0.000087	T	0.36635	0.0974	L	0.44542	1.39	0.38571	D	0.949948	P;B;B;P;B;B;P	0.41265	0.578;0.435;0.435;0.578;0.435;0.435;0.744	B;B;B;B;B;B;B	0.38842	0.283;0.157;0.157;0.157;0.157;0.283;0.21	T	0.23511	-1.0186	10	0.31617	T	0.26	-22.8269	15.0288	0.71691	0.0:1.0:0.0:0.0	.	36;36;36;36;36;36;36	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	T	36	ENSP00000005279:R36T;ENSP00000343610:R36T;ENSP00000315722:R36T;ENSP00000424893:R36T;ENSP00000377903:R36T	ENSP00000343610:R36T	R	-	2	0	SYNRG	33034534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.329000	0.65892	2.693000	0.91896	0.650000	0.86243	AGA		0.308	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	193	0	0	0	1	0	14	193					G	35960421	C	G	35960421	3	3	55	1	0	0	0	0	1	0	0	0	15512	913	32	5	3994	5	SYNRG	17	35960421	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	6733866	35960421	45234789	79	6763											
TCEB3C	162699	broad.mit.edu	37	chr18	44554927	44554928	+	Frame_Shift_Ins	INS	-	-	A													atcggattttcgtggtcactINSactcgcagccgctgctctcg					rs149635425	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:44554927_44554928insA	ENST00000330682.2	-	1	1521_1522	c.1286_1287insT	c.(1285-1287)gtafs	p.V429fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	429	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGTGGTCACTACTCGCAGCCG	0.559																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1285-1287)ggtfs		transcription elongation factor B polypeptide 3C (elongin A3)																																				SO:0001589	frameshift_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554927_44554928insA	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1287dupT	18.37:g.44554928_44554928dupA	ENSP00000328232:p.Val429fs					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.G429fs	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1521_1522	-			429			Activation domain (By similarity).			Frame_Shift_Ins	INS	ENST00000330682.2	37	c.1286_1287insT	CCDS11931.1																																																																																				0.559	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		10	118						10	118	---	---	---	---	A	44554928	-	A	44554927	7	5	55	1	0	1	1	0	0	0	0	0	15735	1509	53	0	2000	0	TCEB3C	18	44554927	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08		44554927	33522321	80	6764											
SMAD4	4089	broad.mit.edu	37	chr18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-													gcgtcagtgtcatcgacagaTgcagcagcaggcggctactg					rs377767362|rs377767363|rs377767361|rs587781359		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000342988.3	+	11	1878_1905	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1339-1368)atgcagcagcaggcggctactgcacaagctfs	p.MQQQAATAQA447fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452																																						ENST00000342988.3																			42	Whole gene deletion(36)|Deletion - Frameshift(4)|Unknown(2)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)	pancreas(27)|large_intestine(6)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CD064636|CM021631	SMAD4	D|M		c.(1339-1368)atfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	18.37:g.48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENSP00000341551:p.Met447fs					SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs	p.MQQQAATAQA447fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1878_1905	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	447			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	CCDS11950.1																																																																																				0.452	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		15	178						15	178	---	---	---	---	-	48603066	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	48603039	7	5	55	1	0	1	0	1	0	0	0	0	14810	1464	51	0	1378	0	SMAD4	18	48603039	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TCGA-FB-AAQ3-01A-11D-A40W-08	4048112	48603039	29474209	81	6765											
EEF2	1938	broad.mit.edu	37	chr19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggcaggatctgccagTggtcaaacacacactggggg	14	12	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCTGCCAGTGGTCAAACAC	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2446-2448)cAc>cTc		eukaryotic translation elongation factor 2							32	29	30					19																	3976682		2200	4299	6499	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3976682T>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2447A>T	19.37:g.3976682T>A	ENSP00000307940:p.His816Leu						p.H816L	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2535	-		Hepatocellular(1079;0.137)	816					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.2447A>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780856	0.90195	.	.	ENSG00000167658	ENST00000309311	T	0.64991	-0.13	5.5	4.48	0.54585	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	H	0.99890	4.9	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.90917	0.4780	10	0.87932	D	0	-51.5156	11.2148	0.48819	0.1372:0.0:0.0:0.8628	.	816	P13639	EF2_HUMAN	L	816	ENSP00000307940:H816L	ENSP00000307940:H816L	H	-	2	0	EEF2	3927682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.003000	0.70701	0.899000	0.36444	0.529000	0.55759	CAC		0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		11	51	0	0	0	1	0	11	51					A	3976682	T	A	3976682	3	1	55	1	0	0	0	0	1	0	0	0	4945	1696	59	5	133	5	EEF2	19	3976682	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08		3976682	55152301	82	6766											
NWD1	284434	broad.mit.edu	37	chr19	16884049	16884049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctggttccagttgtgCgcacaccctgtgctggtgcc	13	13	0	1	rs144961672		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000552788.1	+	9	2523	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000524140.2_Silent_p.C841C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		17353	0.0		0.001	False		,,,				2504	0.0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2521-2523)tgC>tgT		NACHT and WD repeat domain containing 1				0,4406		0,0,2203	60	57	58		2523	-1.3	0	19	dbSNP_134	58	1,8597		0,1,4298	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		841/1433	16884049	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16884049C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2523C>T	19.37:g.16884049C>T						NWD1_ENST00000552788.1_Silent_p.C841C|NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000339803.6_Silent_p.C706C	p.C841C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			11	2941	+			841					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2523C>T																																																																																					0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	270	0	0	0	1	0	6	270					T	16884049	C	T	16884049	2	4	55	1	0	0	0	0	0	0	0	1	10823	776	27	1		1	NWD1	19	16884049	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	12907367	16884049	42244934	83	6767											
PDE4C	5143	broad.mit.edu	37	chr19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgccagcttctgccccGtgtcctctgggagccgaggc	12	16	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTTCTGCCCCGTGTCCTCTGG	0.657																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(601-603)aCg>aTg		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						66	48	54					19																	18331319		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331319G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.602C>T	19.37:g.18331319G>A	ENSP00000347689:p.Thr201Met					PDE4C_ENST00000262805.11_Missense_Mutation_p.T169M|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.T201M|PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000594617.2_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.2_Missense_Mutation_p.T95M	p.T201M			Q08493	PDE4C_HUMAN			10	1473	-			201					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.602C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513874	0.44763	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.70986	-0.53;-0.52;-0.51	4.2	3.13	0.36017	.	0.547115	0.18791	N	0.131041	T	0.72622	0.3483	M	0.62723	1.935	0.80722	D	1	D;B	0.57571	0.98;0.451	P;B	0.50192	0.634;0.103	T	0.73193	-0.4060	10	0.54805	T	0.06	.	11.2003	0.48736	0.0:0.0:0.8144:0.1855	.	201;169	Q08493;Q08493-3	PDE4C_HUMAN;.	M	280;201;189;169;95;310	ENSP00000347689:T201M;ENSP00000262805:T169M;ENSP00000402091:T95M	ENSP00000262805:T169M	T	-	2	0	PDE4C	18192319	0.897000	0.30589	0.985000	0.45067	0.925000	0.55904	4.944000	0.63561	0.870000	0.35726	-0.513000	0.04457	ACG		0.657	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			25	110	0	0	0	1	0	25	110					A	18331319	G	A	18331319	3	1	55	1	0	0	0	0	1	0	0	0	11683	1145	40	1	1576	1	PDE4C	19	18331319	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	1447270	18331319	40797664	84	6768											
CILP2	148113	broad.mit.edu	37	chr19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagtgccgggagccaCcggccggacgacccagcctc	12	19	0	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000291495.5	+	8	3407	c.3322C>T	c.(3322-3324)Ccg>Tcg	p.P1108S	CILP2_ENST00000586018.1_Missense_Mutation_p.P1114S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(3340-3342)Ccg>Tcg		cartilage intermediate layer protein 2							11	11	11					19																	19656676		2094	4117	6211	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656676C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3322C>T	19.37:g.19656676C>T	ENSP00000291495:p.Pro1108Ser					CILP2_ENST00000291495.4_Missense_Mutation_p.P1108S	p.P1114S			Q8IUL8	CILP2_HUMAN			8	3442	+			1108					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.3340C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.516760	0.00975	.	.	ENSG00000160161	ENST00000291495	T	0.49139	0.79	5.57	0.901	0.19284	.	0.431826	0.25919	N	0.027455	T	0.29588	0.0738	L	0.38531	1.155	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.15809	-1.0424	10	0.17832	T	0.49	-2.1441	5.6241	0.17473	0.1343:0.5332:0.2595:0.0731	.	1108;1108	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	1108	ENSP00000291495:P1108S	ENSP00000291495:P1108S	P	+	1	0	CILP2	19517676	0.000000	0.05858	0.004000	0.12327	0.089000	0.18198	-0.586000	0.05787	0.035000	0.15519	-0.314000	0.08810	CCG		0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		11	69	0	0	0	1	0	11	69					T	19656676	C	T	19656676	3	4	55	1	0	0	0	0	1	0	0	0	3439	507	18	2	3352	2	CILP2	19	19656676	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	1325357	19656676	39472307	85	6769											
ZNF83	55769	broad.mit.edu	37	chr19	53116801	53116801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaggtttctctccagtGtggattctccagtgatttac	9	8	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53116801G>A	ENST00000597597.1	-	2	3270	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H339H			P51522	ZNF83_HUMAN	zinc finger protein 83	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1015-1017)caC>caT		zinc finger protein 83							118	120	120					19																	53116801		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116801G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1017C>T	19.37:g.53116801G>A						ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H339H	p.H339H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3270	-			339					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1017C>T	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		8	707	0	0	0	1	0	8	707					A	53116801	G	A	53116801	2	1	55	1	0	0	0	0	0	0	0	1	18236	1368	48	2		2	ZNF83	19	53116801	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	33460125	53116801	6012182	86	6770											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	962	0	0	0	1	0	6	962					A	53644386	T	A	53644386	2	1	55	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	527585	53644386	5484597	87	6771											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					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.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	394	0	0	0	1	0	6	394					A	53855284	G	A	53855284	2	1	55	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	210898	53855284	5273699	88	6772											
AVP	551	broad.mit.edu	37	chr20	3065264	3065264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagttctggaagtagcaCgcggaggagaaggccagtag	18	7	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in NDI; probably causes insufficient processing of precursor). {ECO:0000269|PubMed:12519420, ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8370682, ECO:0000269|PubMed:8514868, ECO:0000269|PubMed:8554046, ECO:0000269|PubMed:9580132}.|A -> V (in NDI). {ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8554046}.		cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637																																						ENST00000380293.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(55-57)gcG>gcA		arginine vasopressin							126	115	119					20																	3065264		2203	4300	6503	SO:0001819	synonymous_variant	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065264C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.57G>A	20.37:g.3065264C>T							p.A19A	NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	106	-			19		A -> T (in ADNDI; probably causes insufficient processing of precursor).|A -> V (in ADNDI).			A0AV35|O14935	Silent	SNP	ENST00000380293.3	37	c.57G>A	CCDS13045.1																																																																																				0.637	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		123	593	0	0	0	1	0	123	593					T	3065264	C	T	3065264	2	4	55	1	0	0	0	0	0	0	0	1	1230	523	19	1		1	AVP	20	3065264	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		3065264	59960256	89	6773											
ITPA	3704	broad.mit.edu	37	chr20	3193873	3193873	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcacagaaaattgaccGtatgtctctgttttgtttta	10	6	1	2	rs376142053		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000455664.2_Splice_Site|ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000399838.3_Intron	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403																																						ENST00000380113.3																			0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.e2+1		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)		G	,	0,4406		0,0,2203	180	174	176		,	5.4	1	20		176	1,8599	2.2+/-6.3	0,1,4299	no	splice-5,splice-5	ITPA	NM_033453.2,NM_181493.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	3193873	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3193873G>A	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.124+1G>A	20.37:g.3193873G>A						ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000455664.1_Splice_Site|ITPA_ENST00000399838.3_Intron		NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN			2	316	+									Splice_Site	SNP	ENST00000380113.3	37		CCDS13051.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987186	0.74589	0.0	1.16E-4	ENSG00000125877	ENST00000380113;ENST00000455664	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8694	0.70444	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPA	3141873	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.722000	0.84778	2.585000	0.87301	0.644000	0.83932	.		0.403	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2		Intron	6	554	0	0	0	1	0	6	554					A	3193873	G	A	3193873	5	1	55	1	0	0	0	0	0	0	1	0	7945	1159	40	1	131	1	ITPA	20	3193873	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	128609	3193873	59831647	90	6774											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		6	463	0	0	0	1	0	6	463					A	34241168	G	A	34241168	3	1	55	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	31047295	34241168	28784352	91	6775											
UBE2G2	7327	broad.mit.edu	37	chr21	46191357	46191357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgctcccggtcatcgcGccacattttggacgcatcca	9	15	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46191357G>A	ENST00000345496.2	-	6	703	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C|UBE2G2_ENST00000477954.1_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	145					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CGGTCATCGCGCCACATTTTG	0.532																																						ENST00000345496.2																			0				breast(3)|central_nervous_system(1)|lung(1)	5						c.(433-435)Cgc>Tgc		ubiquitin-conjugating enzyme E2G 2							196	170	179					21																	46191357		2203	4300	6503	SO:0001583	missense	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46191357G>A	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"Ubiquitin-conjugating enzymes E2"	12483	protein-coding gene	gene with protein product		603124	"ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)", "ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.433C>T	21.37:g.46191357G>A	ENSP00000338348:p.Arg145Cys					UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C|UBE2G2_ENST00000477954.1_5'UTR	p.R145C	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	6	703	-			145					A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	ENST00000345496.2	37	c.433C>T	CCDS13714.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220071	0.58560	.	.	ENSG00000184787	ENST00000345496;ENST00000330942	T;T	0.39056	1.1;1.1	5.19	4.31	0.51392	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.176152	0.51477	D	0.000086	T	0.54464	0.1860	M	0.93678	3.445	0.80722	D	1	P	0.45902	0.868	B	0.39805	0.31	T	0.69161	-0.5218	10	0.87932	D	0	-5.1704	13.5327	0.61631	0.0769:0.0:0.9231:0.0	.	145	P60604	UB2G2_HUMAN	C	145;117	ENSP00000338348:R145C;ENSP00000331384:R117C	ENSP00000331384:R117C	R	-	1	0	UBE2G2	45015785	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.458000	0.80787	1.165000	0.42670	-0.291000	0.09656	CGC		0.532	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	NM_182688		6	765	0	0	0	1	0	6	765					A	46191357	G	A	46191357	3	1	55	1	0	0	0	0	1	0	0	0	16911	1087	38	1	68	1	UBE2G2	21	46191357	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		46191357	1938538	92	6776											
CLCN4	1183	broad.mit.edu	37	chrX	10188809	10188809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcccctgaagctgcggcGcatcctgaacctcagcccgt	9	17	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:10188809G>A	ENST00000380833.4	+	12	2475	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCTGCGGCGCATCCTGAAC	0.592																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2083-2085)cGc>cAc		chloride channel, voltage-sensitive 4							142	114	123					X																	10188809		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188809G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2084G>A	X.37:g.10188809G>A	ENSP00000370213:p.Arg695His					CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	p.R695H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			12	2475	+			695					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2084G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979220	0.53827	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93604	-3.25;-3.25;-3.25	5.36	5.36	0.76844	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	N	0.17674	0.51	0.80722	D	1	B	0.15719	0.014	B	0.13407	0.009	D	0.83394	0.0019	10	0.18276	T	0.48	-31.0777	18.267	0.90055	0.0:0.0:1.0:0.0	.	695	P51793	CLCN4_HUMAN	H	695;664;601	ENSP00000370213:R695H;ENSP00000370209:R664H;ENSP00000405754:R601H	ENSP00000370209:R664H	R	+	2	0	CLCN4	10148809	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	5.378000	0.66190	2.253000	0.74438	0.591000	0.81541	CGC		0.592	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	859	0	0	0	1	0	7	859					A	10188809	G	A	10188809	3	1	55	1	0	0	0	0	1	0	0	0	3474	1087	38	1	2122	1	CLCN4	23	10188809	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		10188809	145081751	93	6777											
MAP3K15	389840	broad.mit.edu	37	chrX	19418734	19418734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccctccagctccaccGtactgcctgctgtattggtt	7	16	1	0	rs555050902		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:19418734G>A	ENST00000338883.4	-	14	1891	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T66M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T463M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	631							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGCTCCACCGTACTGCCTGC	0.448													g|||	2	0.000529801	0.0	0.0	3775	,	,		15533	0.0		0.001	False		,,,				2504	0.001					ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1891-1893)aCg>aTg		mitogen-activated protein kinase kinase kinase 15							359	307	325					X																	19418734		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19418734G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1892C>T	X.37:g.19418734G>A	ENSP00000345629:p.Thr631Met					MAP3K15_ENST00000469203.2_Missense_Mutation_p.T463M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.T66M	p.T631M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			14	1891	-	Hepatocellular(33;0.183)		631					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1892C>T		.	.	.	.	.	.	.	.	.	.	G	11.39	1.623360	0.28889	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73047	-0.67;-0.71;-0.66	5.28	3.5	0.40072	.	0.415363	0.28161	N	0.016374	T	0.75796	0.3898	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.64042	0.921;0.911	T	0.65759	-0.6090	10	0.33141	T	0.24	.	10.9509	0.47327	0.156:0.0:0.844:0.0	.	106;631	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	M	631;66;463	ENSP00000345629:T631M;ENSP00000352093:T66M;ENSP00000428356:T463M	ENSP00000345629:T631M	T	-	2	0	MAP3K15	19328655	0.996000	0.38824	0.001000	0.08648	0.081000	0.17604	5.930000	0.70104	0.444000	0.26612	0.597000	0.82753	ACG		0.448	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		8	1518	0	0	0	1	0	8	1518					A	19418734	G	A	19418734	3	1	55	1	0	0	0	0	1	0	0	0	9290	1145	40	1	2113	1	MAP3K15	23	19418734	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	9229925	19418734	135851826	94	6778											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766129	27766129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggactgtatacaattActgtgaatcccgccaatacc	8	10	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:27766129A>G	ENST00000451261.2	+	5	1516	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	373										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GTATACAATTACTGTGAATCC	0.403																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1117-1119)Act>Gct		DDB1 and CUL4 associated factor 8-like 2							122	87	98					X																	27766129		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766129A>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1117A>G	X.37:g.27766129A>G	ENSP00000462745:p.Thr373Ala						p.T373A	NM_001136533.1	NP_001130005.1					5	1516	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1117A>G	CCDS59162.1																																																																																				0.403	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		34	166	0	0	0	1	0	34	166					G	27766129	A	G	27766129	3	3	55	1	0	0	0	0	1	0	0	0	4289	391	14	4	1119	4	DCAF8L2	23	27766129	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	8347395	27766129	127504431	95	6779											
MAGEB1	4112	broad.mit.edu	37	chrX	30269201	30269201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgattgggactttcccagGaatgggcttctgatgcctct	11	9	2	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(589-591)agG>agA		melanoma antigen family B, 1							86	64	72					X																	30269201		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269201G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.591G>A	X.37:g.30269201G>A						MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	912	+			197			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.591G>A	CCDS14222.1																																																																																				0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		20	86	0	0	0	1	0	20	86					A	30269201	G	A	30269201	2	1	55	1	0	0	0	0	0	0	0	1	9213	1165	41	2		2	MAGEB1	23	30269201	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	2503072	30269201	125001359	96	6780											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	799	0	0	0	1	0	11	799					G	37028425	A	G	37028425	3	3	55	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	6759224	37028425	118242135	97	6781											
FAM47C	442444	broad.mit.edu	37	chrX	37028585	37028585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagactggagtgtcccGtctccacccagagcctccca	9	17	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2101-2103)cGt>cAt		family with sequence similarity 47, member C							50	49	49					X																	37028585		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028585G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2102G>A	X.37:g.37028585G>A	ENSP00000367913:p.Arg701His						p.R701H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2154	+			701					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2102G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.173	-1.069496	0.01918	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	1.03	-1.87	0.07737	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39313	-0.9620	9	0.39692	T	0.17	.	6.6045	0.22718	0.4044:0.0:0.5956:0.0	.	701	Q5HY64	FA47C_HUMAN	H	701	ENSP00000367913:R701H	ENSP00000367913:R701H	R	+	2	0	FAM47C	36938506	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.468000	0.06656	-1.790000	0.01263	-1.767000	0.00664	CGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	641	0	0	0	1	0	6	641					A	37028585	G	A	37028585	3	1	55	1	0	0	0	0	1	0	0	0	5596	1145	40	1	2104	1	FAM47C	23	37028585	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	160	37028585	118241975	98	6782											
PRAF2	11230	broad.mit.edu	37	chrX	48931491	48931491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagagcgaggccgatgccGaagcagagaaggtagttggt	18	7	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PRAF2_ENST00000491199.1_5'UTR|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Silent_p.F52F|WDR45_ENST00000553851.1_Intron	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	52					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657																																						ENST00000376390.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(154-156)ttC>ttT		PRA1 domain family, member 2							76	64	68					X																	48931491		2203	4300	6503	SO:0001819	synonymous_variant	11230							g.chrX:48931491G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"PRA1 domain family 2"			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.156C>T	X.37:g.48931491G>A						PRAF2_ENST00000376386.3_Silent_p.F52F|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'UTR	p.F52F	NM_007213.1	NP_009144.1					1	239	-								B2RD20	Silent	SNP	ENST00000376390.4	37	c.156C>T	CCDS14317.1																																																																																				0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		61	201	0	0	0	1	0	61	201					A	48931491	G	A	48931491	2	1	55	1	0	0	0	0	0	0	0	1	12469	1049	37	1		1	PRAF2	23	48931491	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	11902906	48931491	106339069	99	6783											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		4	115	0	0	0	1	0	4	115					T	66765161	A	T	66765161	3	4	55	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	17833670	66765161	88505399	100	6784											
CAPN6	827	broad.mit.edu	37	chrX	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-													gattccagctcctttcggccAaaaatagggttgttcacatt							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331	293	306					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	2533						7	2533	---	---	---	---	-	110494259	A	-	110494259	7	5	55	1	0	1	0	1	0	0	0	0	2637	127	5	0	905	0	CAPN6	23	110494259	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ3-01A-11D-A40W-08	43729098	110494259	44776301	101	6785											
STAG2	10735	broad.mit.edu	37	chrX	123181240	123181240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttggtgaatgtggcacTaaatcttagcattaatatgg	10	5	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(703-705)cTa>cAa		stromal antigen 2							85	80	82					X																	123181240		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123181240T>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.704T>A	X.37:g.123181240T>A	ENSP00000360202:p.Leu235Gln					STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q	p.L235Q			Q8N3U4	STAG2_HUMAN			9	994	+			235					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.704T>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531408	0.85706	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.69	5.69	0.88448	STAG (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.57725	0.2073	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.891;0.999	T	0.58747	-0.7582	10	0.27082	T	0.32	-12.9753	14.8699	0.70448	0.0:0.0:0.0:1.0	.	235;235	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	235;235;166;235;235;235;235	ENSP00000218089:L235Q;ENSP00000397265:L235Q;ENSP00000346555:L166Q;ENSP00000360202:L235Q;ENSP00000360199:L235Q;ENSP00000360187:L235Q;ENSP00000360186:L235Q	ENSP00000218089:L235Q	L	+	2	0	STAG2	123008921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.893000	0.54813	0.486000	0.48141	CTA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		8	430	0	0	0	1	0	8	430					A	123181240	T	A	123181240	3	1	55	1	0	0	0	0	1	0	0	0	15295	1522	53	5	730	5	STAG2	23	123181240	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	12686981	123181240	32089320	102	6786											
HS6ST2	90161	broad.mit.edu	37	chrX	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-													tcataaactgatacctctgcAaaaaaaggtctttggcatag							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)ttgfs	p.L496fs	HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1486-1488)tgfs		heparan sulfate 6-O-sulfotransferase 2							155	153	154					X																	131762582		1937	4110	6047	SO:0001589	frameshift_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762582delA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1487delT	X.37:g.131762582delA	ENSP00000359873:p.Leu496fs					HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	p.L496fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1902	-	Acute lymphoblastic leukemia(192;0.000127)		496					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Frame_Shift_Del	DEL	ENST00000370836.2	37	c.1487delT	CCDS48169.1																																																																																				0.453	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		7	1254						7	1254	---	---	---	---	-	131762582	A	-	131762582	7	5	55	1	0	1	0	1	0	0	0	0	7401	131	5	0	334	0	HS6ST2	23	131762582	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ3-01A-11D-A40W-08	8581342	131762582	23507978	103	6787											
MCF2	4168	broad.mit.edu	37	chrX	138678769	138678769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttctccactttcaacaCgccttttgcaaaaaacaatg	4	13	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000370576.4	-	19	2425	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000520602.1_Missense_Mutation_p.R799H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)					ACTTTCAACACGCCTTTTGCA	0.383																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2395-2397)cGt>cAt		MCF.2 cell line derived transforming sequence							107	88	94					X																	138678769		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:138678769C>T		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.2216G>A	X.37:g.138678769C>T	ENSP00000359608:p.Arg739His					MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000370576.4_Missense_Mutation_p.R739H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H	p.R799H			P10911	MCF2_HUMAN			22	2681	-	Acute lymphoblastic leukemia(192;0.000127)		739			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2396G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948071	0.92593	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.56611	0.99;0.88;0.79;0.99;0.99;0.45;1.05;0.9;0.95	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.93197	3.39	0.48830	D	0.999716	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;P;P;D;P	0.87578	0.834;0.994;0.886;0.834;0.886;0.834;0.998;0.834	D	0.85413	0.1138	10	0.66056	D	0.02	.	17.6181	0.88073	0.0:1.0:0.0:0.0	.	815;884;700;739;739;884;755;739	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	H	799;739;700;884;799;342;815;739;755	ENSP00000427745:R799H;ENSP00000359608:R739H;ENSP00000438155:R700H;ENSP00000359610:R884H;ENSP00000397055:R799H;ENSP00000405848:R342H;ENSP00000430276:R815H;ENSP00000359605:R739H;ENSP00000342204:R755H	ENSP00000342204:R755H	R	-	2	0	MCF2	138506435	1.000000	0.71417	0.719000	0.30619	0.940000	0.58332	6.066000	0.71185	2.376000	0.81061	0.600000	0.82982	CGT		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		73	364	0	0	0	1	0	73	364					T	138678769	C	T	138678769	3	4	55	1	0	0	0	0	1	0	0	0	9419	536	19	1	617	1	MCF2	23	138678769	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	6916187	138678769	16591791	104	6788											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-													ctgacaatcttacctcatcaTtttttttgttattggattca							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221	189	200					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		11	785						11	785	---	---	---	---	-	142605149	T	-	142605149	7	5	55	1	0	1	0	1	0	0	0	0	15044	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ3-01A-11D-A40W-08	3926380	142605149	12665411	105	6789											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	994						10	994	---	---	---	---	-	149937528	GGC	-	149937526	7	5	55	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-FB-AAQ3-01A-11D-A40W-08	7332377	149937526	5333034	106	6790											
FATE1	89885	broad.mit.edu	37	chrX	150890398	150890398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggacagatgcagtggCgcagactagcctggaagagt	15	10	0	3	rs144817068		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:150890398C>T	ENST00000370350.3	+	4	450	c.365C>T	c.(364-366)gCg>gTg	p.A122V		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGTGGCGCAGACTAGC	0.547																																						ENST00000370350.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(364-366)gCg>gTg		fetal and adult testis expressed 1		C	VAL/ALA	0,3835		0,0,1632,571	185	169	174		365	2.5	0	X	dbSNP_134	174	1,6727		0,1,2427,1872	yes	missense	FATE1	NM_033085.2	64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging	122/184	150890398	1,10562	2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150890398C>T	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.365C>T	X.37:g.150890398C>T	ENSP00000359375:p.Ala122Val						p.A122V	NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN			4	450	+	Acute lymphoblastic leukemia(192;6.56e-05)		122						Missense_Mutation	SNP	ENST00000370350.3	37	c.365C>T	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913166	0.52439	0.0	1.49E-4	ENSG00000147378	ENST00000370350	T	0.46819	0.86	4.34	2.54	0.30619	.	0.652461	0.13509	N	0.382674	T	0.23572	0.0570	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	B	0.35688	0.208	T	0.16719	-1.0393	10	0.02654	T	1	-3.6056	5.2887	0.15716	0.0:0.7368:0.0:0.2632	.	122	Q969F0	FATE1_HUMAN	V	122	ENSP00000359375:A122V	ENSP00000359375:A122V	A	+	2	0	FATE1	150641054	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.136000	0.31467	0.968000	0.38212	0.529000	0.55759	GCG		0.547	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		6	900	0	0	0	1	0	6	900					T	150890398	C	T	150890398	3	4	55	1	0	0	0	0	1	0	0	0	5718	768	27	1	379	1	FATE1	23	150890398	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	952872	150890398	4380162	107	6791											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		8	178						8	178	---	---	---	---	-	152087572	GAG	-	152087570	7	5	55	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-FB-AAQ3-01A-11D-A40W-08	1197172	152087570	3182990	108	6792											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	136	0	0	0	1	0	6	136					G	21806573	A	G	21806573	3	3	56	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08		21806573	227444048	1	6793											
RCAN3	11123	broad.mit.edu	37	chr1	24859625	24859625	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctatctcctgccgccccagcCtgtcaagcagttcctcatct	6	18	4	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:24859625C>G	ENST00000374395.4	+	4	735	c.422C>G	c.(421-423)cCt>cGt	p.P141R	RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	141					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CCGCCCCAGCCTGTCAAGCAG	0.567																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(421-423)cCt>cGt		RCAN family member 3							69	63	65					1																	24859625		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24859625C>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.422C>G	1.37:g.24859625C>G	ENSP00000363516:p.Pro141Arg					RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000374393.2_Intron	p.P141R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	4	735	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	141					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.422C>G	CCDS254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242107	0.79912	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.50548	0.76;0.75;0.74	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90650	3.135	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	T	0.80487	-0.1361	10	0.72032	D	0.01	-28.9874	19.094	0.93242	0.0:1.0:0.0:0.0	.	83;131;141	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	R	141;131;83	ENSP00000363516:P141R;ENSP00000414447:P131R;ENSP00000445401:P83R	ENSP00000363516:P141R	P	+	2	0	RCAN3	24732212	1.000000	0.71417	0.967000	0.41034	0.498000	0.33706	7.278000	0.78587	2.822000	0.97130	0.558000	0.71614	CCT		0.567	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			88	63	0	0	0	1	0	88	63					G	24859625	C	G	24859625	3	3	56	1	0	0	0	0	1	0	0	0	13220	681	24	5	432	5	RCAN3	1	24859625	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	3053052	24859625	224390996	2	6794											
SLC6A17	388662	broad.mit.edu	37	chr1	110738217	110738217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctctgtagtgggctgctGtgtctttgcattcctcgtgg	13	10	2	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:110738217G>A	ENST00000331565.4	+	10	1987	c.1502G>A	c.(1501-1503)tGt>tAt	p.C501Y		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	501					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGGCTGCTGTGTCTTTGCA	0.637																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1501-1503)tGt>tAt		solute carrier family 6 (neutral amino acid transporter), member 17							81	74	76					1																	110738217		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738217G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1502G>A	1.37:g.110738217G>A	ENSP00000330199:p.Cys501Tyr						p.C501Y	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	1987	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	501					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1502G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983175	0.93044	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76186	-1.0	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94494	0.7704	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	501	Q9H1V8	S6A17_HUMAN	Y	501	ENSP00000330199:C501Y	ENSP00000330199:C501Y	C	+	2	0	SLC6A17	110539740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	TGT		0.637	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		107	103	0	0	0	1	0	107	103					A	110738217	G	A	110738217	3	1	56	1	0	0	0	0	1	0	0	0	14730	1377	48	2	1536	2	SLC6A17	1	110738217	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	85878592	110738217	138512404	3	6795											
LASS2	29956	broad.mit.edu	37	chr1	150940315	150940315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacaatgacggccatgCcggcaatgaaggcaatcagg	11	12	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:150940315C>T	ENST00000271688.6	-	5	835	c.449G>A	c.(448-450)gGc>gAc	p.G150D	RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.G141D|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.G150D|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	150	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GACGGCCATGCCGGCAATGAA	0.537																																						ENST00000271688.6																			0											c.(448-450)gGc>gAc		ceramide synthase 2							154	134	141					1																	150940315		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940315C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.449G>A	1.37:g.150940315C>T	ENSP00000271688:p.Gly150Asp					CERS2_ENST00000368954.5_Missense_Mutation_p.G150D|CERS2_ENST00000561294.1_Missense_Mutation_p.G141D|CERS2_ENST00000345896.4_5'UTR	p.G150D	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			5	835	-			150			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.449G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776104	0.90195	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.88818	-2.43;-2.43;-2.43;-2.43;1.3	4.89	4.89	0.63831	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96875	0.9642	10	0.87932	D	0	-20.9281	17.8497	0.88742	0.0:1.0:0.0:0.0	.	150	Q96G23	CERS2_HUMAN	D	150;150;170;150;150	ENSP00000357950:G150D;ENSP00000271688:G150D;ENSP00000357945:G170D;ENSP00000355020:G150D;ENSP00000393239:G150D	ENSP00000271688:G150D	G	-	2	0	CERS2	149206939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.240000	0.78192	2.536000	0.85505	0.655000	0.94253	GGC		0.537	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		6	545	0	0	0	1	0	6	545					T	150940315	C	T	150940315	3	4	56	1	0	0	0	0	1	0	0	0	8670	739	26	2	721	2	LASS2	1	150940315	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	40202098	150940315	98310306	4	6796											
SNX27	81609	broad.mit.edu	37	chr1	151634647	151634647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttttcccccagaactaCaatggtgtgtccgacgtaga	9	11	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:151634647C>T	ENST00000458013.2	+	5	927	c.807C>T	c.(805-807)taC>taT	p.Y269Y	SNX27_ENST00000368838.1_Silent_p.Y176Y|SNX27_ENST00000368843.3_Silent_p.Y269Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27	269	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGAACTACAATGGTGTGT	0.418																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(805-807)taC>taT		sorting nexin family member 27							93	79	84					1																	151634647		2203	4300	6503	SO:0001819	synonymous_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151634647C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.807C>T	1.37:g.151634647C>T						SNX27_ENST00000458013.2_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y	p.Y269Y	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	927	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		269			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37	c.807C>T																																																																																					0.418	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		47	175	0	0	0	1	0	47	175					T	151634647	C	T	151634647	2	4	56	1	0	0	0	0	0	0	0	1	14947	489	17	2		2	SNX27	1	151634647	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	694332	151634647	97615974	5	6797											
GBA	2629	broad.mit.edu	37	chr1	155205555	155205555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatgggactgtcgacaaaGttacgcacccaattgggtcc	11	10	0	1	rs80356768		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:155205555G>T	ENST00000327247.5	-	10	1537	c.1305C>A	c.(1303-1305)aaC>aaA	p.N435K	GBA_ENST00000428024.3_Missense_Mutation_p.N348K|GBA_ENST00000368373.3_Missense_Mutation_p.N435K|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000427500.3_Missense_Mutation_p.N386K|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Missense_Mutation_p.N322K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	435			N -> T (in GD1; mild). {ECO:0000269|PubMed:8889591}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TGTCGACAAAGTTACGCACCC	0.547									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(1042-1044)aaC>aaA		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						141	109	120					1																	155205555		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155205555G>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1305C>A	1.37:g.155205555G>T	ENSP00000314508:p.Asn435Lys					GBA_ENST00000427500.2_Missense_Mutation_p.N386K|GBA_ENST00000536770.1_Missense_Mutation_p.N322K|GBA_ENST00000327247.5_Missense_Mutation_p.N435K|GBA_ENST00000368373.3_Missense_Mutation_p.N435K	p.N348K	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1546	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		435		A -> V (in GD).			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.1044C>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569455	0.45798	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	4.95	3.07	0.35406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	M	0.93939	3.475	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.994	D	0.99748	1.1017	10	0.87932	D	0	.	9.7187	0.40289	0.247:0.0:0.753:0.0	.	386;322;435	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	K	386;348;435;435;322;392;420	ENSP00000402577:N386K;ENSP00000397986:N348K;ENSP00000357357:N435K;ENSP00000314508:N435K;ENSP00000445560:N322K	ENSP00000314508:N435K	N	-	3	2	GBA	153472179	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.486000	0.53215	0.379000	0.24794	-0.797000	0.03246	AAC		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		33	144	1	0	4.3181e-19	1	4.55221e-19	33	144					T	155205555	G	T	155205555	3	4	56	1	0	0	0	0	1	0	0	0	6294	1020	36	3	317	3	GBA	1	155205555	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	3570908	155205555	94045066	6	6798											
CCDC19	25790	broad.mit.edu	37	chr1	159856380	159856380	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgctccacttccatcatctGatccaaccgcttctcttctg	4	18	4	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:159856380G>A	ENST00000368099.4	-	6	752	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q145*	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCATCATCTGATCCAACCGC	0.483																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(433-435)Cag>Tag		coiled-coil domain containing 19							310	281	291					1																	159856380		2203	4300	6503	SO:0001587	stop_gained	25790					mitochondrion|soluble fraction		g.chr1:159856380G>A																												ENST00000368099.4:c.688C>T	1.37:g.159856380G>A	ENSP00000357079:p.Gln230*					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.Q230*	p.Q145*			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		6	888	-	all_hematologic(112;0.0597)		230						Nonsense_Mutation	SNP	ENST00000368099.4	37	c.433C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	38	6.842086	0.97877	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	.	.	.	5.51	4.57	0.56435	.	0.368018	0.31519	N	0.007516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3392	13.8298	0.63373	0.0:0.1546:0.8454:0.0	.	.	.	.	X	230;145	.	.	Q	-	1	0	CCDC19	158123004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.719000	0.38011	1.273000	0.44346	0.563000	0.77884	CAG		0.483	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			105	1195	0	0	0	1	0	105	1195					A	159856380	G	A	159856380	4	1	56	1	0	0	0	0	0	1	0	0	2802	1299	45	2	995	2	CCDC19	1	159856380	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	4650825	159856380	89394241	7	6799											
C1orf110	339512	broad.mit.edu	37	chr1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggggaccctgtgccGgagataatgggcatttctgg	16	9	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(778-780)Cgg>Tgg		chromosome 1 open reading frame 110							84	82	82					1																	162824686		1883	4107	5990	SO:0001583	missense	339512							g.chr1:162824686G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	1.37:g.162824686G>A	ENSP00000356886:p.Arg260Trp					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron	p.R260W	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	898	-			260					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.778C>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		0.502	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		5	367	0	0	0	1	0	5	367					A	162824686	G	A	162824686	3	1	56	1	0	0	0	0	1	0	0	0	1990	1115	39	1	134	1	C1orf110	1	162824686	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2968306	162824686	86425935	8	6800											
FAM78B	149297	broad.mit.edu	37	chr1	166039919	166039919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtttctgtggtgttcccGtaccaagggtagctcacccc	10	13	2	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:166039919G>A	ENST00000338353.3	-	3	934	c.345C>T	c.(343-345)taC>taT	p.Y115Y	FAM78B_ENST00000354422.3_Silent_p.Y115Y			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	115										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGTGTTCCCGTACCAAGGGT	0.532																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(343-345)taC>taT		family with sequence similarity 78, member B							112	105	107					1																	166039919		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039919G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.345C>T	1.37:g.166039919G>A						FAM78B_ENST00000354422.3_Silent_p.Y115Y	p.Y115Y			Q5VT40	FA78B_HUMAN			3	934	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		115					B7Z693	Silent	SNP	ENST00000338353.3	37	c.345C>T	CCDS30931.1																																																																																				0.532	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		6	402	0	0	0	1	0	6	402					A	166039919	G	A	166039919	2	1	56	1	0	0	0	0	0	0	0	1	5652	1140	40	1		1	FAM78B	1	166039919	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	3215233	166039919	83210702	9	6801											
F5	2153	broad.mit.edu	37	chr1	169510549	169510549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgtctgactgagttctGgagagaggtttgtctggctg	16	5	3	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:169510549G>A	ENST00000367797.3	-	13	3980	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	F5_ENST00000367796.3_Missense_Mutation_p.P1265L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1260	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3793-3795)cCa>cTa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						209	227	221					1																	169510549		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510549G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3779C>T	1.37:g.169510549G>A	ENSP00000356771:p.Pro1260Leu					F5_ENST00000367797.3_Missense_Mutation_p.P1260L	p.P1265L			P12259	FA5_HUMAN			13	3995	-	all_hematologic(923;0.208)		1260			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3794C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535336	0.45176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38722	1.12;1.12	4.76	1.72	0.24424	.	.	.	.	.	T	0.21590	0.0520	M	0.70595	2.14	0.22366	N	0.999165	B	0.14805	0.011	B	0.14023	0.01	T	0.06516	-1.0822	8	0.59425	D	0.04	-2.6912	7.0922	0.25289	0.0846:0.0:0.6134:0.302	.	1260	P12259	FA5_HUMAN	L	1260;1265	ENSP00000356771:P1260L;ENSP00000356770:P1265L	ENSP00000356770:P1265L	P	-	2	0	F5	167777173	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	1.214000	0.32419	0.143000	0.18926	0.650000	0.86243	CCA		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		416	1120	0	0	0	1	0	416	1120					A	169510549	G	A	169510549	3	1	56	1	0	0	0	0	1	0	0	0	5366	1348	47	2	2947	2	F5	1	169510549	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	3470630	169510549	79740072	10	6802											
HMCN1	83872	broad.mit.edu	37	chr1	186017951	186017951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaaaactgaaaaaaActacaatgtcaacatttggg	8	6	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186017951A>T	ENST00000271588.4	+	42	6786	c.6557A>T	c.(6556-6558)aAc>aTc	p.N2186I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2186	Ig-like C2-type 19.				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)			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						ACTGAAAAAAACTACAATGTC	0.358																																						ENST00000271588.4																			0				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						c.(6556-6558)aAc>aTc		hemicentin 1							94	96	95					1																	186017951		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017951A>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.6557A>T	1.37:g.186017951A>T	ENSP00000271588:p.Asn2186Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			42	6786	+			2186			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6557A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600104	0.87055	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041576	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25890	0.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.70795	-0.4775	10	0.33141	T	0.24	.	15.4776	0.75497	1.0:0.0:0.0:0.0	.	2186	Q96RW7	HMCN1_HUMAN	I	2186	ENSP00000271588:N2186I;ENSP00000356462:N2186I	ENSP00000271588:N2186I	N	+	2	0	HMCN1	184284574	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.910000	0.92685	2.106000	0.64143	0.455000	0.32223	AAC		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	404	0	0	0	1	0	34	404					T	186017951	A	T	186017951	3	4	56	1	0	0	0	0	1	0	0	0	7250	43	2	5	6723	5	HMCN1	1	186017951	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	16507402	186017951	63232670	11	6803											
ASPM	259266	broad.mit.edu	37	chr1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagattgaagcaccagtaccGcatgacggagttcaatatac	9	9	1	3	rs368693433		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219	213	215		,5849	5.6	0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	1.37:g.197072532G>A	ENSP00000356379:p.Ala1950Val					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A1950V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6105	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5849C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	1201	0	0	0	1	0	9	1201					A	197072532	G	A	197072532	3	1	56	1	0	0	0	0	1	0	0	0	1057	1087	38	1	4628	1	ASPM	1	197072532	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	11054581	197072532	52178089	12	6804											
KLHL12	59349	broad.mit.edu	37	chr1	202864825	202864825	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggacactgaggccacataAcgtctcttacgagtgatgct	11	10	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:202864825A>T	ENST00000367261.3	-	8	1178	c.960T>A	c.(958-960)cgT>cgA	p.R320R	KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	320					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCCACATAACGTCTCTTAC	0.483																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(958-960)cgT>cgA		kelch-like family member 12							114	94	101					1																	202864825		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202864825A>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.960T>A	1.37:g.202864825A>T						KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	p.R320R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		8	1178	-			320					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.960T>A	CCDS1429.1																																																																																				0.483	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		5	225	0	0	0	1	0	5	225					T	202864825	A	T	202864825	2	4	56	1	0	0	0	0	0	0	0	1	8398	30	2	5		5	KLHL12	1	202864825	Silent	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	5792293	202864825	46385796	13	6805											
NFASC	23114	broad.mit.edu	37	chr1	204923462	204923462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatatcagtgcttcgcccGcaacaaatttggcacggccc	10	13	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:204923462G>A	ENST00000401399.1	+	5	561	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367172.4_Missense_Mutation_p.R121H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H			O94856	NFASC_HUMAN	neurofascin	121	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCTTCGCCCGCAACAAATTT	0.607																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(361-363)cGc>cAc		neurofascin							46	50	49					1																	204923462		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204923462G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.362G>A	1.37:g.204923462G>A	ENSP00000385637:p.Arg121His					NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000401399.1_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H	p.R121H			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		6	690	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		121			Ig-like C2-type 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.362G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351348|3.351348	0.61183|0.61183	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.53938	.|D	.|0.000050	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.72624|0.72624	2.21|2.21	0.40172|0.40172	D|D	0.977199|0.977199	.|P;P;B;P;P;D	.|0.54601	.|0.711;0.64;0.206;0.838;0.752;0.967	.|B;B;B;B;B;P	.|0.50270	.|0.1;0.083;0.162;0.144;0.083;0.636	T|T	0.77197|0.77197	-0.2676|-0.2676	5|10	.|0.46703	.|T	.|0.11	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;115;217;121;115;121	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	T|H	91|121;121;121;121;121;121;115;115;115;121;121;121;115;121;121;115;115;91	.|ENSP00000356140:R121H;ENSP00000356139:R121H;ENSP00000356138:R121H;ENSP00000342128:R121H;ENSP00000344786:R121H;ENSP00000343509:R121H;ENSP00000438614:R115H;ENSP00000353154:R115H;ENSP00000356137:R121H;ENSP00000412161:R121H;ENSP00000384875:R121H;ENSP00000385676:R115H;ENSP00000385637:R121H;ENSP00000427586:R121H;ENSP00000384061:R115H;ENSP00000425908:R115H;ENSP00000415031:R91H	.|ENSP00000295776:R115H	A|R	+|+	1|2	0|0	NFASC|NFASC	203190085|203190085	0.782000|0.782000	0.28689|0.28689	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.659000|2.659000	0.46741|0.46741	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		5	160	0	0	0	1	0	5	160					A	204923462	G	A	204923462	3	1	56	1	0	0	0	0	1	0	0	0	10401	1087	38	1	376	1	NFASC	1	204923462	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2058637	204923462	44327159	14	6806											
PGBD5	79605	broad.mit.edu	37	chr1	230492737	230492737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgtggtctggctggagCggaaggccacgacgtggaag	19	9	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:230492737C>T	ENST00000525115.1	-	2	478	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H|PGBD5_ENST00000321327.2_Missense_Mutation_p.R251H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGCTGGAGCGGAAGGCCAC	0.617																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(751-753)cGc>cAc		piggyBac transposable element derived 5							80	73	75					1																	230492737		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492737C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.455G>A	1.37:g.230492737C>T	ENSP00000431404:p.Arg152His					PGBD5_ENST00000525115.1_Missense_Mutation_p.R152H|PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H	p.R251H			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	751	-	Breast(184;0.0397)	Prostate(94;0.167)	152					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.549386	0.96501	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18016	2.24;2.24;2.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01512	-1.1336	10	0.48119	T	0.1	-48.7684	20.5568	0.99304	0.0:1.0:0.0:0.0	.	152	Q8N414	PGBD5_HUMAN	H	106;251;152	ENSP00000375733:R106H;ENSP00000322530:R251H;ENSP00000431404:R152H	ENSP00000322530:R251H	R	-	2	0	PGBD5	228559360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	CGC		0.617	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		63	280	0	0	0	1	0	63	280					T	230492737	C	T	230492737	3	4	56	1	0	0	0	0	1	0	0	0	11826	768	27	1	936	1	PGBD5	1	230492737	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	25569275	230492737	18757884	15	6807											
KIAA1804	84451	broad.mit.edu	37	chr1	233482283	233482283	+	Frame_Shift_Del	DEL	A	A	-													gggaatggcacaggaccaccAaaatgagcacagcaggcacc							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:233482283delA	ENST00000366624.3	+	2	1162	c.901delA	c.(901-903)aaafs	p.K301fs	MLK4_ENST00000366623.3_Frame_Shift_Del_p.K301fs	NM_032435.2	NP_115811.2																					CAGGACCACCAAAATGAGCAC	0.453																																						ENST00000366624.3																			0											c.(901-903)aafs									101	95	97					1																	233482283		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:233482283delA																												ENST00000366624.3:c.901delA	1.37:g.233482283delA	ENSP00000355583:p.Lys301fs					MLK4_ENST00000366623.3_Frame_Shift_Del_p.K301fs	p.K301fs	NM_032435.2	NP_115811.2					2	1162	+									Frame_Shift_Del	DEL	ENST00000366624.3	37	c.901delA	CCDS1598.1																																																																																				0.453	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			89	345						89	345	---	---	---	---	-	233482283	A	-	233482283	7	5	56	1	0	1	0	1	0	0	0	0	8289	131	5	0	907	0	KIAA1804	1	233482283	Frame_Shift_Del	DEL	A	TCGA-FB-AAQ6-01A-11D-A40W-08	2989546	233482283	15768338	16	6808											
LPIN1	23175	broad.mit.edu	37	chr2	11935562	11935562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagcagtgcttggctgGcaaggcccatagcaccggag	15	12	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:11935562G>A	ENST00000256720.2	+	13	1820	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	576					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCTTGGCTGGCAAGGCCCAT	0.557																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1726-1728)gGc>gAc		lipin 1							57	58	58					2																	11935562		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11935562G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1727G>A	2.37:g.11935562G>A	ENSP00000256720:p.Gly576Asp					LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D	p.G576D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	13	1820	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		576					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1727G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176287	0.21704	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80738	-1.41;-1.4;-1.38;-1.38;-1.24;-0.39;0.52	4.62	3.72	0.42706	.	0.160285	0.56097	D	0.000028	T	0.77164	0.4090	M	0.65975	2.015	0.38288	D	0.942626	B;B;B	0.14805	0.0;0.011;0.008	B;B;B	0.15870	0.002;0.014;0.007	T	0.73297	-0.4027	10	0.30854	T	0.27	-16.8688	12.3844	0.55325	0.0:0.1712:0.8288:0.0	.	77;661;576	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	D	661;618;582;576;306;77;103	ENSP00000397908:G661D;ENSP00000379406:G618D;ENSP00000401522:G582D;ENSP00000256720:G576D;ENSP00000379404:G306D;ENSP00000386120:G77D;ENSP00000413714:G103D	ENSP00000256720:G576D	G	+	2	0	LPIN1	11853013	0.713000	0.27926	0.024000	0.17045	0.016000	0.09150	2.551000	0.45820	0.923000	0.37045	0.655000	0.94253	GGC		0.557	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		5	363	0	0	0	1	0	5	363					A	11935562	G	A	11935562	3	1	56	1	0	0	0	0	1	0	0	0	8956	1203	42	2	1773	2	LPIN1	2	11935562	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		11935562	231263811	17	6809											
ELMOD3	84173	broad.mit.edu	37	chr2	85617280	85617280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgtaatcggcagcagAaggtcatccccgtggtgaac	14	9	1	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:85617280A>C	ENST00000409890.2	+	13	1502	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	ELMOD3_ENST00000315658.7_Missense_Mutation_p.K279Q|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	279	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TCGGCAGCAGAAGGTCATCCC	0.567																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(835-837)Aag>Cag		ELMO/CED-12 domain containing 3							100	83	88					2																	85617280		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85617280A>C	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.835A>C	2.37:g.85617280A>C	ENSP00000386304:p.Lys279Gln					ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q	p.K279Q	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			11	1094	+			279			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.835A>C	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	A	7.253	0.603569	0.14002	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.98	2.38	0.29361	Engulfment/cell motility, ELMO (2);	0.194639	0.44483	D	0.000460	T	0.08758	0.0217	N	0.01081	-1.03	0.80722	D	1	B;B	0.23937	0.094;0.01	B;B	0.19946	0.027;0.006	T	0.16867	-1.0388	10	0.09084	T	0.74	-18.2695	10.0611	0.42275	0.51:0.49:0.0:0.0	.	279;279	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	Q	279	ENSP00000387139:K279Q;ENSP00000386304:K279Q;ENSP00000386248:K279Q;ENSP00000377434:K279Q;ENSP00000318264:K279Q	ENSP00000318264:K279Q	K	+	1	0	ELMOD3	85470791	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	2.853000	0.48317	0.730000	0.32425	0.460000	0.39030	AAG		0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		9	326	0	0	0	1	0	9	326					C	85617280	A	C	85617280	3	2	56	1	0	0	0	0	1	0	0	0	5088	247	9	4	873	4	ELMOD3	2	85617280	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	73681718	85617280	157582093	18	6810											
FASTKD1	79675	broad.mit.edu	37	chr2	170411659	170411660	+	Frame_Shift_Ins	INS	-	-	A													agtaattctctaagtttcgcINSaaaaaactccttcctttgga							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:170411659_170411660insA	ENST00000453153.2	-	7	1534_1535	c.1188_1189insT	c.(1186-1191)tttgcgfs	p.A397fs	FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.A397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	397					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTAAGTTTCGCAAAAAACTCCT	0.302																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(1186-1191)ttcgaafs		FAST kinase domains 1																																				SO:0001589	frameshift_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170411659_170411660insA	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1189dupT	2.37:g.170411665_170411665dupA	ENSP00000400513:p.Ala397fs					FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.E397fs	p.E397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			7	1534_1535	-			397					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Frame_Shift_Ins	INS	ENST00000453153.2	37	c.1188_1189insT	CCDS33318.1																																																																																				0.302	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		87	243						87	243	---	---	---	---	A	170411660	-	A	170411659	7	5	56	1	0	1	1	0	0	0	0	0	5710	710	25	0	1390	0	FASTKD1	2	170411659	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08	84794379	170411659	72787714	19	6811											
EVX2	344191	broad.mit.edu	37	chr2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-													gaagtagcgaagggcgacgaAgccgcggccgccgcgcctga							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)gcagcctcaggcgcggcggccgcggctdel	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	300	Poly-Ala.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(898-924)del		even-skipped homeobox 2																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	2.37:g.176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENSP00000312385:p.Ala300_Ala308del						p.AASGAAAAA300del	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1034_1060	-			300			Poly-Ala.			In_Frame_Del	DEL	ENST00000308618.4	37	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	CCDS33333.1																																																																																				0.731	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			13	35						13	35	---	---	---	---	-	176945368	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-	176945342	7	5	56	1	0	1	0	1	0	0	0	0	5313	59	3	0	508	0	EVX2	2	176945342	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	TCGA-FB-AAQ6-01A-11D-A40W-08	6533683	176945342	66254031	20	6812											
OSBPL6	114880	broad.mit.edu	37	chr2	179253838	179253838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtaaccatcagaaaTaccaaaagcagtgtttgcat	9	7	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:179253838T>C	ENST00000190611.4	+	21	2635	c.2259T>C	c.(2257-2259)aaT>aaC	p.N753N	OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000359685.3_Silent_p.N717N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	753					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATCAGAAATACCAAAAGCA	0.348																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2257-2259)aaT>aaC		oxysterol binding protein-like 6							127	109	115					2																	179253838		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179253838T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2259T>C	2.37:g.179253838T>C						OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000359685.3_Silent_p.N717N	p.N753N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2635	+			753					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.2259T>C	CCDS2277.1																																																																																				0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		73	157	0	0	0	1	0	73	157					C	179253838	T	C	179253838	2	2	56	1	0	0	0	0	0	0	0	1	11323	1403	49	4		4	OSBPL6	2	179253838	Silent	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	2308496	179253838	63945535	21	6813											
BARD1	580	broad.mit.edu	37	chr2	215645418	215645418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttaatgtagaaggtggtgTacctggtgaaagactaatga	12	4	0	4	rs587782548		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:215645418T>C	ENST00000260947.4	-	4	1314	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	394					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGTGGTGTACCTGGTGAA	0.418									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1180-1182)Aca>Gca		BRCA1 associated RING domain 1							180	158	165					2																	215645418		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645418T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1180A>G	2.37:g.215645418T>C	ENSP00000260947:p.Thr394Ala					BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	p.T394A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1314	-		Renal(323;0.0243)	394					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1180A>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172231	0.38315	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74421	-0.84;-0.23	5.24	4.05	0.47172	.	0.507037	0.19811	N	0.105540	T	0.70806	0.3266	M	0.71581	2.175	0.26675	N	0.971643	B;B	0.30406	0.278;0.172	B;B	0.24974	0.057;0.039	T	0.64415	-0.6413	10	0.56958	D	0.05	-0.3721	11.0331	0.47785	0.0:0.0:0.2982:0.7018	.	250;394	E7EUI3;Q99728	.;BARD1_HUMAN	A	394;250	ENSP00000260947:T394A;ENSP00000406752:T250A	ENSP00000260947:T394A	T	-	1	0	BARD1	215353663	0.001000	0.12720	0.030000	0.17652	0.101000	0.19017	0.916000	0.28651	0.796000	0.33947	0.379000	0.24179	ACA		0.418	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		47	293	0	0	0	1	0	47	293					C	215645418	T	C	215645418	3	2	56	1	0	0	0	0	1	0	0	0	1313	1638	57	4	1185	4	BARD1	2	215645418	Missense_Mutation	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	36391580	215645418	27553955	22	6814											
ALPP	250	broad.mit.edu	37	chr2	233244230	233244230	+	Missense_Mutation	SNP	A	A	G													tctctgtccccagacatacaAtgtagacaaacatgtgccag					rs1130341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244230A>G	ENST00000392027.2	+	4	586	c.317A>G	c.(316-318)aAt>aGt	p.N106S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	106					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGACATACAATGTAGACAAA	0.577																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(316-318)aAt>aGt		alkaline phosphatase, placental		A	SER/ASN	1,4405		0,1,2202	56	51	52		317	-0.4	1	2	dbSNP_86	52	0,8600		0,0,4300	no	missense	ALPP	NM_001632.3	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	106/536	233244230	1,13005	2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244230A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.317A>G	2.37:g.233244230A>G	ENSP00000375881:p.Asn106Ser						p.N106S	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	586	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	106					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.317A>G	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	2.668	-0.278125	0.05679	2.27E-4	0.0	ENSG00000163283	ENST00000392027	D	0.95103	-3.61	2.31	-0.39	0.12450	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.295720	0.40818	N	0.001001	D	0.83487	0.5265	N	0.12831	0.26	0.29049	N	0.884612	B	0.30889	0.299	B	0.25405	0.06	T	0.75230	-0.3391	10	0.30854	T	0.27	.	6.227	0.20714	0.7126:0.1707:0.1167:0.0	rs1130341;rs3189051;rs17412756	106	P05187	PPB1_HUMAN	S	106	ENSP00000375881:N106S	ENSP00000375881:N106S	N	+	2	0	ALPP	232952474	0.992000	0.36948	0.984000	0.44739	0.510000	0.34073	0.843000	0.27640	-0.220000	0.09988	-0.817000	0.03123	AAT		0.577	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		7	115	0	0	0	1	0	7	115					G	233244230	A	G	233244230	3	3	56	1	0	0	0	0	1	0	0	0	548	101	4	4	331	4	ALPP	2	233244230	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	17598812	233244230	9955143	23	6815	46	2									
ALPP	250	broad.mit.edu	37	chr2	233244240	233244240	+	Silent	SNP	A	A	G													cagacatacaatgtagacaaAcatgtgccagacagtggagc					rs1130342		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244240A>G	ENST00000392027.2	+	4	596	c.327A>G	c.(325-327)aaA>aaG	p.K109K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	109					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ATGTAGACAAACATGTGCCAG	0.567																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(325-327)aaA>aaG		alkaline phosphatase, placental																																				SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244240A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.327A>G	2.37:g.233244240A>G							p.K109K	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	596	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	109					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.327A>G	CCDS2490.1																																																																																				0.567	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		8	117	0	0	0	1	0	8	117					G	233244240	A	G	233244240	2	3	56	1	0	0	0	0	0	0	0	1	548	40	2	4		4	ALPP	2	233244240	Silent	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	10	233244240	9955133	24	6816	46	2									
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		7	250						7	250	---	---	---	---	T	234394237	-	T	234394236	7	5	56	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08	1149996	234394236	8805137	25	6817											
TGFBR2	7048	broad.mit.edu	37	chr3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagtgtgtggcagaaCgcttcagtgagctggagcat	14	10	1	2	rs104893809		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). {ECO:0000269|PubMed:15235604}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.R537C(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809	c.(1609-1611)Cgc>Tgc		transforming growth factor, beta receptor II (70/80kDa)							83	80	81					3																	30732996		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732996C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1609C>T	3.37:g.30732996C>T	ENSP00000295754:p.Arg537Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	p.R537C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1991	+			537		R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1609C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	TGFBR2	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC		0.577	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			120	129	0	0	0	1	0	120	129					T	30732996	C	T	30732996	3	4	56	1	0	0	0	0	1	0	0	0	15874	536	19	1	1714	1	TGFBR2	3	30732996	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08		30732996	167289434	26	6818											
TRAK1	22906	broad.mit.edu	37	chr3	42251691	42251691	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccattctcacctctgTtccaggcaccatccgtagtg	9	14	2	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:42251691T>G	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_Missense_Mutation_p.V668G|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCACCTCTGTTCCAGGCACC	0.512																																					GBM(44;195 884 22595 31865 41850)	ENST00000341421.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2002-2004)gTt>gGt		trafficking protein, kinesin binding 1							256	273	267					3																	42251691		2203	4300	6503	SO:0001627	intron_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42251691T>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+214T>G	3.37:g.42251691T>G						TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron	p.V668G	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN			13	2196	+			0					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2003T>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757085	0.49468	.	.	ENSG00000182606	ENST00000341421	T	0.10005	2.92	5.11	5.11	0.69529	.	.	.	.	.	T	0.09598	0.0236	N	0.14661	0.345	0.37486	D	0.916183	.	.	.	.	.	.	T	0.44667	-0.9313	6	.	.	.	.	12.9395	0.58335	0.0:0.0:0.0:1.0	.	.	.	.	G	668	ENSP00000340702:V668G	.	V	+	2	0	TRAK1	42226695	0.995000	0.38212	0.969000	0.41365	0.988000	0.76386	3.462000	0.53042	2.043000	0.60533	0.533000	0.62120	GTT		0.512	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		405	480	0	0	0	1	0	405	480					G	42251691	T	G	42251691	1	3	56	0	1	0	0	0	0	0	0	0	16502	1725	60	4		4	TRAK1	3	42251691	Intron	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	11518695	42251691	155770739	27	6819											
PLXNB1	5364	broad.mit.edu	37	chr3	48462686	48462686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtctggggaggggcaCatcacaccagaaccagtcag	14	11	3	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:48462686C>T	ENST00000358536.4	-	8	2030	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	587					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGAGGGGCACATCACACCAG	0.642																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1759-1761)atG>atA		plexin B1							67	68	68					3																	48462686		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48462686C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1761G>A	3.37:g.48462686C>T	ENSP00000351338:p.Met587Ile					PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	2030	-			587					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1761G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408216	0.11754	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	5.02	5.02	0.67125	.	0.169599	0.52532	D	0.000070	T	0.02533	0.0077	N	0.13352	0.335	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.58239	-0.7671	10	0.21014	T	0.42	.	16.9108	0.86139	0.0:1.0:0.0:0.0	.	587;587	O43157;O43157-2	PLXB1_HUMAN;.	I	587	ENSP00000296440:M587I;ENSP00000351242:M587I;ENSP00000351338:M587I;ENSP00000414199:M587I	ENSP00000296440:M587I	M	-	3	0	PLXNB1	48437690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.851000	0.39338	2.350000	0.79820	0.561000	0.74099	ATG		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		149	179	0	0	0	1	0	149	179					T	48462686	C	T	48462686	3	4	56	1	0	0	0	0	1	0	0	0	12165	478	17	2	4770	2	PLXNB1	3	48462686	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	6210995	48462686	149559744	28	6820											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	904						7	904	---	---	---	---	-	66436627	GCT	-	66436625	7	5	56	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-FB-AAQ6-01A-11D-A40W-08	17973939	66436625	131585805	29	6821											
DNAJC13	23317	broad.mit.edu	37	chr3	132207849	132207849	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacacacataccaaacaggCtttcaagtcagaagaggtaa	7	9	2	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:132207849C>G	ENST00000260818.6	+	31	3700	c.3452C>G	c.(3451-3453)gCt>gGt	p.A1151G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1151					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCAAACAGGCTTTCAAGTCA	0.333																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3451-3453)gCt>gGt		DnaJ (Hsp40) homolog, subfamily C, member 13							64	64	64					3																	132207849		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207849C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3452C>G	3.37:g.132207849C>G	ENSP00000260818:p.Ala1151Gly						p.A1151G	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			31	3700	+			1151					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3452C>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718859	0.68844	.	.	ENSG00000138246	ENST00000260818	T	0.21031	2.03	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.69463	2.115	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.02567	-1.1140	10	0.34782	T	0.22	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	1151	O75165	DJC13_HUMAN	G	1151	ENSP00000260818:A1151G	ENSP00000260818:A1151G	A	+	2	0	DNAJC13	133690539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.950000	0.63603	2.770000	0.95276	0.650000	0.86243	GCT		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		72	185	0	0	0	1	0	72	185					G	132207849	C	G	132207849	3	3	56	1	0	0	0	0	1	0	0	0	4648	797	28	5	3570	5	DNAJC13	3	132207849	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	65771224	132207849	65814581	30	6822											
BOD1L	259282	broad.mit.edu	37	chr4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgcttctatgatcgGcatgcttttcagaattacta	8	8	3	2	rs543366380	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5																			0											c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158	165	163					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val						p.A1197V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	879	0	0	0	1	0	7	879					A	13604934	G	A	13604934	3	1	56	1	0	0	0	0	1	0	0	0	1485	1203	42	2	5633	2	BOD1L	4	13604934	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		13604934	177549342	31	6823											
C4orf35	85438	broad.mit.edu	37	chr4	71200877	71200877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaatcagaaacaactAttacttcagaaggagaccac	5	11	2	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:71200877A>G	ENST00000273936.5	+	1	195	c.121A>G	c.(121-123)Att>Gtt	p.I41V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	41					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.I41V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAAACAACTATTACTTCAGA	0.368																																						ENST00000273936.4																			1	Substitution - Missense(1)	p.I41V(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(121-123)Att>Gtt		calcium-binding protein, spermatid-specific 1							97	100	99					4																	71200877		2203	4299	6502	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71200877A>G	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.121A>G	4.37:g.71200877A>G	ENSP00000273936:p.Ile41Val						p.I41V	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	180	+			41					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.121A>G	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316266	0.60524	.	.	ENSG00000145309	ENST00000273936	T	0.32023	1.47	4.79	4.79	0.61399	.	0.000000	0.40144	N	0.001162	T	0.33702	0.0872	L	0.34521	1.04	0.28651	N	0.90667	P	0.50943	0.94	P	0.53450	0.726	T	0.11012	-1.0605	10	0.40728	T	0.16	-26.118	10.8986	0.47038	1.0:0.0:0.0:0.0	.	41	Q96KC9	CABS1_HUMAN	V	41	ENSP00000273936:I41V	ENSP00000273936:I41V	I	+	1	0	CABS1	71235466	0.997000	0.39634	0.984000	0.44739	0.825000	0.46686	3.771000	0.55318	2.142000	0.66516	0.528000	0.53228	ATT		0.368	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		12	528	0	0	0	1	0	12	528					G	71200877	A	G	71200877	3	3	56	1	0	0	0	0	1	0	0	0	2272	449	16	4	123	4	C4orf35	4	71200877	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	57595943	71200877	119953399	32	6824											
PDLIM3	27295	broad.mit.edu	37	chr4	186423581	186423581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttgaggttgcagtcgGcacacacgaagcactcaggg	15	9	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:186423581G>A	ENST00000284770.5	-	8	1035	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	321	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTTGCAGTCGGCACACACGAA	0.557																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(961-963)gCc>gTc		PDZ and LIM domain 3							129	115	120					4																	186423581		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186423581G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.962C>T	4.37:g.186423581G>A	ENSP00000284770:p.Ala321Val					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V	p.A321V	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1035	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	321			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.962C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047505	0.75846	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	D;D	0.88277	-2.36;-2.36	5.5	5.5	0.81552	Zinc finger, LIM-type (5);	0.104803	0.64402	D	0.000002	D	0.87293	0.6141	L	0.28649	0.875	0.80722	D	1	B;B	0.32302	0.363;0.24	B;B	0.39935	0.209;0.314	D	0.86544	0.1830	10	0.72032	D	0.01	-24.6852	19.757	0.96298	0.0:0.0:1.0:0.0	.	273;321	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	V	321;273	ENSP00000284770:A321V;ENSP00000284771:A273V	ENSP00000284770:A321V	A	-	2	0	PDLIM3	186660575	1.000000	0.71417	0.748000	0.31131	0.843000	0.47879	7.823000	0.86660	2.758000	0.94735	0.561000	0.74099	GCC		0.557	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		7	576	0	0	0	1	0	7	576					A	186423581	G	A	186423581	3	1	56	1	0	0	0	0	1	0	0	0	11723	1203	42	2	136	2	PDLIM3	4	186423581	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	115222704	186423581	4730695	33	6825											
C5orf42	65250	broad.mit.edu	37	chr5	37125474	37125474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatctctcttctttccttgtCagttctttgtgaatgtctgc	6	10	6	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:37125474C>G	ENST00000508244.1	-	45	8761	c.8668G>C	c.(8668-8670)Gac>Cac	p.D2890H	C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1788H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2890						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCAGTTCTTTGT	0.348																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5362-5364)Gac>Cac		chromosome 5 open reading frame 42							149	141	144					5																	37125474		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37125474C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8668G>C	5.37:g.37125474C>G	ENSP00000421690:p.Asp2890His					C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2890H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H	p.D1788H			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		46	8949	-	all_lung(31;0.000616)		2890					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5362G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633422	0.87660	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.97	5.97	0.96955	.	0.392756	0.27792	N	0.017821	T	0.43055	0.1230	L	0.29908	0.895	0.31060	N	0.714288	P;P	0.46220	0.547;0.874	B;B	0.44224	0.444;0.444	T	0.52859	-0.8519	10	0.66056	D	0.02	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	2890;1788	E9PH94;Q9H799	.;CE042_HUMAN	H	2890;2890;1788;1956	ENSP00000421690:D2890H;ENSP00000389014:D2890H;ENSP00000274258:D1788H;ENSP00000424223:D1956H	ENSP00000274258:D1788H	D	-	1	0	C5orf42	37161231	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.754000	0.55189	2.828000	0.97474	0.655000	0.94253	GAC		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		13	411	0	0	0	1	0	13	411					G	37125474	C	G	37125474	3	3	56	1	0	0	0	0	1	0	0	0	2308	826	29	5	953	5	C5orf42	5	37125474	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08		37125474	143789786	34	6826											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799542	140799542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtgctctttctcctcGcggtgattctagctattgct	8	11	4	1	rs372316838		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:140799542G>A	ENST00000398594.2	+	1	2116	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.557																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(2116-2118)Gcg>Acg				G	,,,,,,,,,,,,,,,THR/ALA,,THR/ALA	0,4324		0,0,2162	100	105	103		,,,,,,,,,,,,,,,2116,,2116	1.4	0	5		103	2,8512		0,2,4255	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,58,,58	0,2,6417	AA,AG,GG		0.0235,0.0,0.0156	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,706/930,,706/809	140799542	2,12836	2162	4257	6419	SO:0001583	missense	0							g.chr5:140799542G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2116G>A	5.37:g.140799542G>A	ENSP00000381594:p.Ala706Thr					PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.A706T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2116	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2116G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.656858	0.00779	0.0	2.35E-4	ENSG00000254122	ENST00000398594	T	0.14640	2.49	5.77	1.43	0.22495	.	0.277852	0.18696	U	0.133734	T	0.07279	0.0184	L	0.31578	0.945	0.09310	N	1	B;B	0.28470	0.213;0.141	B;B	0.25884	0.021;0.064	T	0.37430	-0.9706	10	0.13853	T	0.58	.	4.5122	0.11917	0.3841:0.0:0.4673:0.1486	.	706;706	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	706	ENSP00000381594:A706T	ENSP00000381594:A706T	A	+	1	0	PCDHGB7	140779726	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	1.191000	0.32138	0.352000	0.24053	0.561000	0.74099	GCG		0.557	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		114	214	0	0	0	1	0	114	214					A	140799542	G	A	140799542	3	1	56	1	0	0	0	0	1	0	0	0	11610	1087	38	1	2118	1	PCDHGB7	5	140799542	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	103674068	140799542	40115718	35	6827											
PDGFRB	5159	broad.mit.edu	37	chr5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C													tcggctggggcatgccccggINSccacgacagcggactgtctg							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)ggcfs	p.G438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1312-1314)gcgfs		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149510155_149510156insC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1314dupG	5.37:g.149510157_149510157dupC	ENSP00000261799:p.Gly438fs		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.A438fs	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1782_1783	-		all_hematologic(541;0.224)	438			Ig-like C2-type 5.		B5A957|Q8N5L4	Frame_Shift_Ins	INS	ENST00000261799.4	37	c.1313_1314insG	CCDS4303.1																																																																																				0.614	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		14	679						14	679	---	---	---	---	C	149510156	-	C	149510155	7	5	56	1	0	1	1	0	0	0	0	0	11704	1190	42	0	2066	0	PDGFRB	5	149510155	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08	8710613	149510155	31405105	36	6828											
FAT2	2196	broad.mit.edu	37	chr5	150891812	150891812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagcactgggtgaggGcttgtgtctccagcaagcct	16	10	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:150891812G>A	ENST00000261800.5	-	20	11831	c.11819C>T	c.(11818-11820)gCc>gTc	p.A3940V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3940	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)			CTGGGTGAGGGCTTGTGTCTC	0.607																																						ENST00000261800.5																			0				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						c.(11818-11820)gCc>gTc		FAT atypical cadherin 2							68	60	63					5																	150891812		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.chr5:150891812G>A	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.11819C>T	5.37:g.150891812G>A	ENSP00000261800:p.Ala3940Val					CTC-251D13.1_ENST00000606930.1_RNA	p.A3940V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11831	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3940			Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11819C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369196	0.05069	.	.	ENSG00000086570	ENST00000261800	T	0.69561	-0.41	5.16	3.33	0.38152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.459686	0.18025	N	0.154102	T	0.59293	0.2183	L	0.51422	1.61	0.09310	N	1	B;B	0.32245	0.361;0.136	B;B	0.35470	0.203;0.042	T	0.47484	-0.9114	10	0.29301	T	0.29	.	9.7829	0.40660	0.0:0.3639:0.503:0.1331	.	3940;1045	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3940	ENSP00000261800:A3940V	ENSP00000261800:A3940V	A	-	2	0	FAT2	150872005	0.971000	0.33674	0.132000	0.22025	0.017000	0.09413	1.409000	0.34680	0.638000	0.30545	-0.121000	0.15023	GCC		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		47	158	0	0	0	1	0	47	158					A	150891812	G	A	150891812	3	1	56	1	0	0	0	0	1	0	0	0	5715	1203	42	2	1246	2	FAT2	5	150891812	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1381657	150891812	30023448	37	6829											
GRM6	2916	broad.mit.edu	37	chr5	178413297	178413297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccaggaagagcctgCgggcggcacagaccgcggcc	16	16	0	2	rs62638622	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:178413297C>T	ENST00000517717.1	-	9	1996	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R653H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	653					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAAGAGCCTGCGGGCGGCACA	0.642																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1957-1959)cGc>cAc		glutamate receptor, metabotropic 6		C	HIS/ARG	0,4406		0,0,2203	39	42	41	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1958	5	0.1	5	dbSNP_129	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GRM6	NM_000843.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	653/878	178413297	2,13004	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413297C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1958G>A	5.37:g.178413297C>T	ENSP00000430767:p.Arg653His					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R653H	p.R653H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2136	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	653						Missense_Mutation	SNP	ENST00000517717.1	37	c.1958G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471230	0.63625	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90676	-2.71;-2.71	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96087	0.8725	M	0.90425	3.115	0.58432	D	0.999997	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.581	D	0.96814	0.9599	9	0.87932	D	0	.	16.2011	0.82078	0.0:1.0:0.0:0.0	rs62638622	809;653	E7EX65;O15303	.;GRM6_HUMAN	H	809;653;653	ENSP00000231188:R653H;ENSP00000430767:R653H	ENSP00000231188:R653H	R	-	2	0	GRM6	178345903	1.000000	0.71417	0.091000	0.20842	0.116000	0.19942	7.658000	0.83755	2.495000	0.84180	0.462000	0.41574	CGC		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	97	0	0	0	1	0	4	97					T	178413297	C	T	178413297	3	4	56	1	0	0	0	0	1	0	0	0	6831	768	27	1	687	1	GRM6	5	178413297	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	27521485	178413297	2501963	38	6830											
RREB1	6239	broad.mit.edu	37	chr6	7229470	7229470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgtcaggcctgcccccGccgaggagcccctgccggat	13	17	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7229470G>A	ENST00000349384.6	+	10	1452	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	RREB1_ENST00000334984.6_Missense_Mutation_p.A380T|RREB1_ENST00000379938.2_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	380					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCTGCCCCCGCCGAGGAGCC	0.652																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1138-1140)Gcc>Acc		ras responsive element binding protein 1																																				SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229470G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1138G>A	6.37:g.7229470G>A	ENSP00000305560:p.Ala380Thr					RREB1_ENST00000349384.6_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T	p.A380T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1675	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	380					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1138G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386212	0.04966	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.09723	3.07;3.05;3.07;2.95;3.1	5.71	-3.44	0.04796	.	0.637364	0.13362	N	0.393588	T	0.01905	0.0060	N	0.20685	0.6	0.09310	N	1	B;B;B	0.15473	0.009;0.013;0.002	B;B;B	0.09377	0.004;0.004;0.002	T	0.45687	-0.9244	10	0.56958	D	0.05	-3.7986	8.2984	0.31999	0.433:0.2:0.3669:0.0	.	380;380;380	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	380	ENSP00000369265:A380T;ENSP00000369270:A380T;ENSP00000305560:A380T;ENSP00000335574:A380T;ENSP00000419511:A380T	ENSP00000335574:A380T	A	+	1	0	RREB1	7174469	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-0.498000	0.06420	-0.332000	0.08489	-0.672000	0.03802	GCC		0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			35	143	0	0	0	1	0	35	143					A	7229470	G	A	7229470	3	1	56	1	0	0	0	0	1	0	0	0	13729	1087	38	1	1164	1	RREB1	6	7229470	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		7229470	163885597	39	6831											
NOL7	51406	broad.mit.edu	37	chr6	13620462	13620462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaataaaagctacttggccGtaaggctaaaagaccaagat	9	7	0	3	rs143778341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:13620462G>A	ENST00000451315.2	+	6	555	c.523G>A	c.(523-525)Gta>Ata	p.V175I	AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M|RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	175						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTACTTGGCCGTAAGGCTAAA	0.383																																						ENST00000451315.2																			0				breast(1)|large_intestine(3)|lung(1)	5						c.(523-525)Gta>Ata		nucleolar protein 7, 27kDa		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	95	95	95		523	-11.6	0	6	dbSNP_134	95	0,8600		0,0,4300	no	missense	NOL7	NM_016167.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	175/258	13620462	1,13005	2203	4300	6503	SO:0001583	missense	51406					mitochondrion|nucleolus		g.chr6:13620462G>A	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"chromosome 6 open reading frame 90", "polyglutamine binding protein 3"	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.523G>A	6.37:g.13620462G>A	ENSP00000405674:p.Val175Ile					NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	p.V175I	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)		6	555	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	175					Q5T297|Q9Y3U7	Missense_Mutation	SNP	ENST00000451315.2	37	c.523G>A	CCDS4528.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249688	0.22880	2.27E-4	0.0	ENSG00000225921	ENST00000451315	.	.	.	5.8	-11.6	0.00059	.	1.503030	0.04455	N	0.373256	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	B	0.32128	0.357	B	0.24394	0.053	T	0.20107	-1.0285	9	0.52906	T	0.07	-6.5213	23.1364	0.99980	0.0:0.6737:0.2507:0.0756	.	175	Q9UMY1	NOL7_HUMAN	I	175	.	ENSP00000405674:V175I	V	+	1	0	NOL7	13728441	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-1.036000	0.03560	-1.984000	0.00985	-0.211000	0.12701	GTA		0.383	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167		5	309	0	0	0	1	0	5	309					A	13620462	G	A	13620462	3	1	56	1	0	0	0	0	1	0	0	0	10568	1145	40	1	545	1	NOL7	6	13620462	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	6390992	13620462	157494605	40	6832											
NKAPL	222698	broad.mit.edu	37	chr6	28227596	28227596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcagctagattctgaCgaacataccccagttgagga	8	12	2	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:28227596C>T	ENST00000343684.3	+	1	499	c.447C>T	c.(445-447)gaC>gaT	p.D149D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	149										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TAGATTCTGACGAACATACCC	0.512																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(445-447)gaC>gaT		NFKB activating protein-like							96	104	101					6																	28227596		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227596C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.447C>T	6.37:g.28227596C>T							p.D149D	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	499	+			149					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.447C>T	CCDS34353.1																																																																																				0.512	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			181	487	0	0	0	1	0	181	487					T	28227596	C	T	28227596	2	4	56	1	0	0	0	0	0	0	0	1	10482	535	19	1		1	NKAPL	6	28227596	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	14607134	28227596	142887471	41	6833											
GABBR1	2550	broad.mit.edu	37	chr6	29581055	29581055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgaagagttcattgcccGgtagatttggtcggtaatgg	15	6	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:29581055G>A	ENST00000377034.4	-	12	1866	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	GABBR1_ENST00000377016.4_Missense_Mutation_p.R449W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R394W|GABBR1_ENST00000376977.3_Missense_Mutation_p.R511W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R394W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	511					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TTCATTGCCCGGTAGATTTGG	0.527																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1531-1533)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						121	135	130					6																	29581055		1510	2708	4218	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29581055G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1531C>T	6.37:g.29581055G>A	ENSP00000366233:p.Arg511Trp					GABBR1_ENST00000377016.4_Missense_Mutation_p.R449W|GABBR1_ENST00000376977.3_Missense_Mutation_p.R511W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R394W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R394W	p.R511W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			12	1866	-			511					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1531C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938510	0.73557	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.95	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.103697	0.56097	D	0.000021	D	0.87557	0.6207	M	0.69823	2.125	0.58432	D	0.999991	D;D;D;D	0.76494	0.999;0.998;0.996;0.999	P;P;P;D	0.63113	0.877;0.847;0.861;0.911	D	0.89000	0.3421	10	0.72032	D	0.01	-12.476	11.7244	0.51702	0.0:0.0:0.5621:0.4379	.	511;449;511;394	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	W	394;511;449;394;511	ENSP00000348248:R394W;ENSP00000366176:R511W;ENSP00000366215:R449W;ENSP00000366211:R394W;ENSP00000366233:R511W	ENSP00000348248:R394W	R	-	1	2	GABBR1	29689034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.957000	0.29215	1.502000	0.48669	0.655000	0.94253	CGG		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	448	0	0	0	1	0	6	448					A	29581055	G	A	29581055	3	1	56	1	0	0	0	0	1	0	0	0	6182	1115	39	1	1402	1	GABBR1	6	29581055	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1353459	29581055	141534012	42	6834											
PHF3	23469	broad.mit.edu	37	chr6	64412409	64412409	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctgttagaccatagaaatGattgagaaagagcagagaga	11	4	1	7			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64412409G>T	ENST00000262043.3	+	10	3451	c.3111G>T	c.(3109-3111)atG>atT	p.M1037I	PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I			Q92576	PHF3_HUMAN	PHD finger protein 3	1037	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATAGAAATGATTGAGAAAG	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3109-3111)atG>atT		PHD finger protein 3							62	58	59					6																	64412409		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64412409G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3111G>T	6.37:g.64412409G>T	ENSP00000262043:p.Met1037Ile					PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I	p.M1037I			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		10	3451	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1037			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3111G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971366	0.74246	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.46819	2.09;0.86;2.13;2.13	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (2);	0.000000	0.48286	D	0.000195	T	0.41696	0.1170	L	0.39147	1.195	0.80722	D	1	P	0.52842	0.956	P	0.48982	0.597	T	0.33189	-0.9878	10	0.52906	T	0.07	-16.5771	19.3501	0.94379	0.0:0.0:1.0:0.0	.	1037	Q92576	PHF3_HUMAN	I	851;306;1037;1037	ENSP00000424694:M851I;ENSP00000425338:M306I;ENSP00000262043:M1037I;ENSP00000377048:M1037I	ENSP00000262043:M1037I	M	+	3	0	PHF3	64470368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.773000	0.98989	2.576000	0.86940	0.591000	0.81541	ATG		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			38	207	1	0	3.76114e-14	1	3.91785e-14	38	207					T	64412409	G	T	64412409	3	4	56	1	0	0	0	0	1	0	0	0	11878	1290	45	3	3145	3	PHF3	6	64412409	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	34831354	64412409	106702658	43	6835			1	11		4	4	1096	G		1.466552e-08
PHF3	23469	broad.mit.edu	37	chr6	64413449	64413449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgccaataagtcattGgagaagccagaaggatctga	11	10	2	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413449G>A	ENST00000262043.3	+	11	3595	c.3255G>A	c.(3253-3255)ttG>ttA	p.L1085L	PHF3_ENST00000393387.1_Silent_p.L1085L			Q92576	PHF3_HUMAN	PHD finger protein 3	1085					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAGTCATTGGAGAAGCCAG	0.353																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3253-3255)ttG>ttA		PHD finger protein 3							78	82	81					6																	64413449		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413449G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3255G>A	6.37:g.64413449G>A						PHF3_ENST00000393387.1_Silent_p.L1085L	p.L1085L			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3595	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1085					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.3255G>A	CCDS4966.1																																																																																				0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			30	240	0	0	0	1	0	30	240					A	64413449	G	A	64413449	2	1	56	1	0	0	0	0	0	0	0	1	11878	1339	47	2		2	PHF3	6	64413449	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1040	64413449	106701618	44	6836			1	11		4	4	1096	G		1.466552e-08
PHF3	23469	broad.mit.edu	37	chr6	64413463	64413463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcattggagaagccagaagGatctgaaaaacaaaaagagg	12	5	2	4			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413463G>A	ENST00000262043.3	+	11	3609	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E			Q92576	PHF3_HUMAN	PHD finger protein 3	1090					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCCAGAAGGATCTGAAAAA	0.368																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3268-3270)gGa>gAa		PHD finger protein 3							91	93	92					6																	64413463		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413463G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3269G>A	6.37:g.64413463G>A	ENSP00000262043:p.Gly1090Glu					PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E	p.G1090E			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1090					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3269G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681306	0.29872	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.41758	2.35;0.99;2.37;2.37	5.54	1.03	0.20045	.	0.238263	0.21734	N	0.069931	T	0.02727	0.0082	N	0.02539	-0.55	0.25439	N	0.988114	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.02654	T	1	-7.4536	0.8723	0.01217	0.2381:0.1955:0.3717:0.1947	.	1090	Q92576	PHF3_HUMAN	E	904;359;1090;1090	ENSP00000424694:G904E;ENSP00000425338:G359E;ENSP00000262043:G1090E;ENSP00000377048:G1090E	ENSP00000262043:G1090E	G	+	2	0	PHF3	64471422	0.998000	0.40836	0.995000	0.50966	0.968000	0.65278	2.108000	0.41854	0.222000	0.20900	0.591000	0.81541	GGA		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	260	0	0	0	1	0	32	260					A	64413463	G	A	64413463	3	1	56	1	0	0	0	0	1	0	0	0	11878	1174	41	2	3307	2	PHF3	6	64413463	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	14	64413463	106701604	45	6837			1	11		4	4	1096	G		1.466552e-08
PHF3	23469	broad.mit.edu	37	chr6	64413504	64413504	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggttgactctatgtctaaaGataccactagtcaacacaga	7	9	3	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413504G>C	ENST00000262043.3	+	11	3650	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H			Q92576	PHF3_HUMAN	PHD finger protein 3	1104					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TATGTCTAAAGATACCACTAG	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3310-3312)Gat>Cat		PHD finger protein 3							107	107	107					6																	64413504		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413504G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3310G>C	6.37:g.64413504G>C	ENSP00000262043:p.Asp1104His					PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H	p.D1104H			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3650	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1104					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3310G>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133046	0.56828	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.59906	1.23;0.23;1.63;1.63	5.78	5.78	0.91487	.	0.000000	0.37348	N	0.002136	T	0.71247	0.3317	M	0.82193	2.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.75249	-0.3384	10	0.66056	D	0.02	-23.8579	12.4924	0.55907	0.0767:0.0:0.9233:0.0	.	1104	Q92576	PHF3_HUMAN	H	918;373;1104;1104	ENSP00000424694:D918H;ENSP00000425338:D373H;ENSP00000262043:D1104H;ENSP00000377048:D1104H	ENSP00000262043:D1104H	D	+	1	0	PHF3	64471463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.246000	0.78247	2.716000	0.92895	0.591000	0.81541	GAT		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			29	332	0	0	0	1	0	29	332					C	64413504	G	C	64413504	3	2	56	1	0	0	0	0	1	0	0	0	11878	942	33	5	3348	5	PHF3	6	64413504	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	41	64413504	106701563	46	6838			1	11		4	4	1096	G		1.466552e-08
PACRG	135138	broad.mit.edu	37	chr6	163510311	163510311	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccttgaacctccgaaacCgacaggtcatctgtgtcact	8	13	3	1	rs369094995		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:163510311C>T	ENST00000337019.3	+	5	708	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	162					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R162*(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCTCCGAAACCGACAGGTCAT	0.453																																						ENST00000337019.3																			1	Substitution - Nonsense(1)	p.R162*(1)	endometrium(1)	endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(484-486)Cga>Tga		PARK2 co-regulated		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	141	123	129		484,484,484	3.8	1	6		129	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	162/258,162/258,162/297	163510311	1,13005	2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163510311C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.484C>T	6.37:g.163510311C>T	ENSP00000337946:p.Arg162*					PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	708	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	162					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.484C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.811865|4.811865	0.90707|0.90707	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|.	.|.	.|.	5.63|5.63	3.76|3.76	0.43208|0.43208	.|.	.|0.126644	.|0.53938	.|D	.|0.000055	T|.	0.23688|.	0.0573|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08953|.	-1.0697|.	3|.	.|0.08381	.|T	.|0.77	-12.2326|-12.2326	14.4441|14.4441	0.67338|0.67338	0.2765:0.7235:0.0:0.0|0.2765:0.7235:0.0:0.0	.|.	.|.	.|.	.|.	L|X	77|162	.|.	.|ENSP00000337946:R162X	P|R	+|+	2|1	0|2	PACRG|PACRG	163430301|163430301	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.928000|0.928000	0.56348|0.56348	1.974000|1.974000	0.40559|0.40559	0.656000|0.656000	0.30886|0.30886	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		128	164	0	0	0	1	0	128	164					T	163510311	C	T	163510311	4	4	56	1	0	0	0	0	0	1	0	0	11412	644	23	1	498	1	PACRG	6	163510311	Nonsense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	99096807	163510311	7604756	47	6839											
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	11	14	0	0	rs369312237|rs62430309	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16	21	19					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	109	0	0	0	1	0	8	109					G	170871046	A	G	170871046	2	3	56	1	0	0	0	0	0	0	0	1	15696	40	2	4		4	TBP	6	170871046	Silent	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	7360735	170871046	244021	48	6840											
STAG3L4	64940	broad.mit.edu	37	chr7	66785098	66785098	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatgcagctgcattaAtactacattgtcaaagacaa	5	8	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:66785098A>C	ENST00000416602.2	+	0	728					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTGCATTAATACTACATTG	0.368																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															80	70	73					7																	66785098		1838	4080	5918			0							g.chr7:66785098A>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66785098A>C								NR_040586.1		Q8TBR4	STG34_HUMAN			0	728	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	a	4.956	0.177539	0.09443	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	2.19	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3172	0.21196	1.0:0.0:0.0:0.0	.	.	.	.	Y	151	.	.	X	+	3	2	STAG3L4	66422533	1.000000	0.71417	0.992000	0.48379	0.373000	0.29922	1.725000	0.38074	1.031000	0.39867	0.076000	0.15429	TAA		0.368	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		40	234	0	0	0	1	0	40	234					C	66785098	A	C	66785098	1	2	56	0	1	0	0	0	0	0	0	0	15299	108	4	4		4	STAG3L4	7	66785098	RNA	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08		66785098	92353565	49	6841											
DGKI	9162	broad.mit.edu	37	chr7	137092622	137092622	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcactatgcctacttaccGtggtcaaggatatatttcac	7	10	3	0	rs79823365		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:137092622G>A	ENST00000288490.5	-	31	2943	c.2943C>T	c.(2941-2943)caC>caT	p.H981H	DGKI_ENST00000446122.1_Splice_Site_p.H963H|DGKI_ENST00000424189.2_Splice_Site_p.H994H|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Splice_Site_p.H650H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	981					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACTTACCGTGGTCAAGGA	0.443																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.e30+1		diacylglycerol kinase, iota							206	170	182					7																	137092622		2203	4300	6503	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137092622G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2944+1C>T	7.37:g.137092622G>A						DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Splice_Site_p.H981_splice|DGKI_ENST00000446122.1_Splice_Site_p.H963_splice|DGKI_ENST00000424189.2_Splice_Site_p.H994_splice	p.H650_splice			O75912	DGKI_HUMAN			30	2489	-			981					A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	37	c.1951_splice	CCDS5845.1																																																																																				0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Silent	142	365	0	0	0	1	0	142	365					A	137092622	G	A	137092622	5	1	56	1	0	0	0	0	0	0	1	0	4487	1159	40	1	270	1	DGKI	7	137092622	Splice_Site	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	70307524	137092622	22046041	50	6842											
TAS2R4	50832	broad.mit.edu	37	chr7	141478409	141478409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtcaaaagccatagaAtctcctcttctgataggatt	8	9	4	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:141478409A>G	ENST00000247881.2	+	1	168	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	41					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAGCCATAGAATCTCCTCTTC	0.383																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(121-123)Atc>Gtc		taste receptor, type 2, member 4							165	162	163					7																	141478409		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478409A>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.121A>G	7.37:g.141478409A>G	ENSP00000247881:p.Ile41Val					SSBP1_ENST00000465582.1_Intron	p.I41V	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	168	+	Melanoma(164;0.0171)		41					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.121A>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810241	0.16537	.	.	ENSG00000127364	ENST00000247881	T	0.00873	5.59	5.57	2.23	0.28157	.	0.805187	0.11220	N	0.586826	T	0.01189	0.0039	L	0.49126	1.545	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.46992	-0.9151	10	0.30078	T	0.28	.	5.7936	0.18373	0.3662:0.4428:0.191:0.0	.	41	Q9NYW5	TA2R4_HUMAN	V	41	ENSP00000247881:I41V	ENSP00000247881:I41V	I	+	1	0	TAS2R4	141124878	0.000000	0.05858	0.136000	0.22124	0.939000	0.58152	-0.260000	0.08708	0.214000	0.20742	0.528000	0.53228	ATC		0.383	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			154	421	0	0	0	1	0	154	421					G	141478409	A	G	141478409	3	3	56	1	0	0	0	0	1	0	0	0	15629	101	4	4	123	4	TAS2R4	7	141478409	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	4385787	141478409	17660254	51	6843											
MLL3	58508	broad.mit.edu	37	chr7	151917775	151917775	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgtaactgagtcatccctGattcagtcaaacacacacca	5	13	4	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:151917775G>C	ENST00000262189.6	-	23	3763	c.3545C>G	c.(3544-3546)tCa>tGa	p.S1182*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1182*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1182					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTCATCCCTGATTCAGTCAA	0.368																																						ENST00000355193.2																			0											c.(3544-3546)tCa>tGa		lysine (K)-specific methyltransferase 2C							60	57	58					7																	151917775		2203	4297	6500	SO:0001587	stop_gained	58508							g.chr7:151917775G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3545C>G	7.37:g.151917775G>C	ENSP00000262189:p.Ser1182*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1182*	p.S1182*							23	3763	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3545C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	44	10.795837	0.99469	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.37053	U	0.002279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1182	.	ENSP00000262189:S1182X	S	-	2	0	MLL3	151548708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.193000	0.65120	2.161000	0.67846	0.484000	0.47621	TCA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			77	191	0	0	0	1	0	77	191					C	151917775	G	C	151917775	4	2	56	1	0	0	0	0	0	1	0	0	9663	1294	45	5	11338	5	MLL3	7	151917775	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	10439366	151917775	7220888	52	6844											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728914	37728914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttcaactctaccagCggagccctctgctgtggctt	8	12	3	0	rs201773104		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:37728914C>A	ENST00000330843.4	-	4	3418	c.3406G>T	c.(3406-3408)Gct>Tct	p.A1136S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1136					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.A1136T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTCTACCAGCGGAGCCCTCT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			1	Substitution - Missense(1)	p.A1136T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3406-3408)Gct>Tct		RAB11 family interacting protein 1 (class I)							109	118	115					8																	37728914		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728914C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3406G>T	8.37:g.37728914C>A	ENSP00000331342:p.Ala1136Ser		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.A1136S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3418	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1136					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3406G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911299	0.33721	.	.	ENSG00000156675	ENST00000330843	T	0.44881	0.91	5.29	0.0514	0.14297	.	0.867765	0.09895	N	0.741866	T	0.16938	0.0407	N	0.19112	0.55	0.20926	N	0.999823	P;B	0.43826	0.818;0.239	B;B	0.36378	0.223;0.054	T	0.08576	-1.0715	10	0.07030	T	0.85	-1.0042	1.2767	0.02032	0.2411:0.4183:0.1345:0.2061	.	465;1136	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1136	ENSP00000331342:A1136S	ENSP00000331342:A1136S	A	-	1	0	RAB11FIP1	37848072	0.003000	0.15002	0.106000	0.21319	0.878000	0.50629	0.172000	0.16704	-0.054000	0.13266	0.555000	0.69702	GCT		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		153	428	1	0	2.23979e-65	1	2.46517e-65	153	428					A	37728914	C	A	37728914	3	1	56	1	0	0	0	0	1	0	0	0	12943	768	27	3	457	3	RAB11FIP1	8	37728914	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08		37728914	108635108	53	6845											
RP1	6101	broad.mit.edu	37	chr8	55533850	55533850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctacctatgttcccaCggcaggaaggtgcagcctgt	12	12	0	0	rs141074157	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:55533850C>T	ENST00000220676.1	+	2	472	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	108	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGTTCCCACGGCAGGAAGG	0.682													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12906	0.0		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(322-324)caC>caT		retinitis pigmentosa 1 (autosomal dominant)		C		2,4404	4.2+/-10.8	0,2,2201	51	51	51		324	1.1	0.1	8	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	RP1	NM_006269.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		108/2157	55533850	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533850C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.324C>T	8.37:g.55533850C>T							p.H108H	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	472	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	108			Doublecortin 1.			Silent	SNP	ENST00000220676.1	37	c.324C>T	CCDS6160.1																																																																																				0.682	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		141	268	0	0	0	1	0	141	268					T	55533850	C	T	55533850	2	4	56	1	0	0	0	0	0	0	0	1	13582	535	19	1		1	RP1	8	55533850	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	17804936	55533850	90830172	54	6846											
CRISPLD1	83690	broad.mit.edu	37	chr8	75928804	75928804	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttctctaacagaaggGtcagacaggtattatccccc	8	12	2	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:75928804G>C	ENST00000262207.4	+	7	1200	c.732G>C	c.(730-732)ggG>ggC	p.G244G	CRISPLD1_ENST00000517786.1_Silent_p.G58G|CRISPLD1_ENST00000523524.1_Silent_p.G56G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(730-732)ggG>ggC		cysteine-rich secretory protein LCCL domain containing 1							103	108	106					8																	75928804		2203	4300	6503	SO:0001819	synonymous_variant	83690					extracellular region		g.chr8:75928804G>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.732G>C	8.37:g.75928804G>C						CRISPLD1_ENST00000517786.1_Silent_p.G58G|CRISPLD1_ENST00000523524.1_Silent_p.G56G	p.G244G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		7	1200	+	Breast(64;0.0799)		244					B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	c.732G>C	CCDS6219.1																																																																																				0.353	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		60	419	0	0	0	1	0	60	419					C	75928804	G	C	75928804	2	2	56	1	0	0	0	0	0	0	0	1	3891	1248	44	5		5	CRISPLD1	8	75928804	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	20394954	75928804	70435218	55	6847											
ENPP2	5168	broad.mit.edu	37	chr8	120633644	120633644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacacgtacctttgcaaacCacttggtaattggtacagca	7	10	0	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:120633644C>T	ENST00000075322.6	-	4	466	c.408G>A	c.(406-408)gtG>gtA	p.V136V	ENPP2_ENST00000259486.6_Silent_p.V136V|ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000427067.2_Silent_p.V132V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	136	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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)			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)			CTTTGCAAACCACTTGGTAAT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				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						c.(394-396)gtG>gtA		ectonucleotide pyrophosphatase/phosphodiesterase 2							112	103	106					8																	120633644		2203	4300	6503	SO:0001819	synonymous_variant	0				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.chr8:120633644C>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.408G>A	8.37:g.120633644C>T						ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000259486.6_Silent_p.V136V|ENPP2_ENST00000075322.6_Silent_p.V136V	p.V132V			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	576	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		136			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.396G>A	CCDS34936.1																																																																																				0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			86	201	0	0	0	1	0	86	201					T	120633644	C	T	120633644	2	4	56	1	0	0	0	0	0	0	0	1	5148	581	21	2		2	ENPP2	8	120633644	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	44704840	120633644	25730378	56	6848											
MYC	4609	broad.mit.edu	37	chr8	128748845	128748845	+	Frame_Shift_Del	DEL	T	T	-													gcagctgcttagacgctggaTttttttcgggtagtggaaaa							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:128748845delT	ENST00000377970.2	+	1	516	c.6delT	c.(4-6)gatfs	p.D2fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.D2fs|MYC_ENST00000259523.6_5'UTR|CASC11_ENST00000502463.3_lincRNA	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	0					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AGACGCTGGATTTTTTTCGGG	0.493		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(4-6)gafs		v-myc avian myelocytomatosis viral oncogene homolog							58	59	58					8																	128748845		2203	4300	6503	SO:0001589	frameshift_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128748845delT		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.6delT	8.37:g.128748845delT	ENSP00000367207:p.Asp2fs		OREG0018981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_5'UTR|MYC_ENST00000524013.1_Frame_Shift_Del_p.D2fs	p.D2fs	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	1	516	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	0					A8WFE7|P01107|Q14026	Frame_Shift_Del	DEL	ENST00000377970.2	37	c.6delT	CCDS6359.2																																																																																				0.493	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			8	2305						8	2305	---	---	---	---	-	128748845	T	-	128748845	7	5	56	1	0	1	0	1	0	0	0	0	10057	1490	52	0	8	0	MYC	8	128748845	Frame_Shift_Del	DEL	T	TCGA-FB-AAQ6-01A-11D-A40W-08	8115201	128748845	17615177	57	6849											
FAM135B	51059	broad.mit.edu	37	chr8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgctgttcactgtccGtaaagtgcagatccaccttg	8	13	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCACTGTCCGTAAAGTGCAG	0.458										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(352-354)aCg>aTg		family with sequence similarity 135, member B							106	102	103					8																	139268947		1973	4164	6137	SO:0001583	missense	51059							g.chr8:139268947G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.353C>T	8.37:g.139268947G>A	ENSP00000378710:p.Thr118Met	HNSCC(54;0.14)					p.T118M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	523	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		118					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.353C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	FAM135B	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	194	0	0	0	1	0	14	194					A	139268947	G	A	139268947	3	1	56	1	0	0	0	0	1	0	0	0	5470	1145	40	1	3931	1	FAM135B	8	139268947	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	10520102	139268947	7095075	58	6850											
JAK2	3717	broad.mit.edu	37	chr9	5064981	5064981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcattacctctgtaaAgaagtagcacctccagccgt	7	13	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr9:5064981A>G	ENST00000381652.3	+	9	1649	c.1155A>G	c.(1153-1155)aaA>aaG	p.K385K	JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	385					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCTCTGTAAAGAAGTAGCAC	0.348		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1153-1155)aaA>aaG		Janus kinase 2							83	80	81					9																	5064981		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5064981A>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1155A>G	9.37:g.5064981A>G						JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	p.K385K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	9	1649	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	385					O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.1155A>G	CCDS6457.1																																																																																				0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			68	78	0	0	0	1	0	68	78					G	5064981	A	G	5064981	2	3	56	1	0	0	0	0	0	0	0	1	7968	69	3	4		4	JAK2	9	5064981	Silent	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08		5064981	136148450	59	6851											
C10orf71	118461	broad.mit.edu	37	chr10	50532116	50532116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggacgtgcggaagcGtgttaagagcacatacagtt	12	9	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:50532116G>A	ENST00000374144.3	+	3	1814	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	509										endometrium(1)	1						GTGCGGAAGCGTGTTAAGAGC	0.493																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1525-1527)cGt>cAt		chromosome 10 open reading frame 71							58	62	61					10																	50532116		2071	4202	6273	SO:0001583	missense	118461							g.chr10:50532116G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1526G>A	10.37:g.50532116G>A	ENSP00000363259:p.Arg509His					C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H	p.R509H			Q711Q0	CJ071_HUMAN			3	1814	+			509					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1526G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552873	0.86127	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.20881	2.04;3.13	5.48	4.57	0.56435	.	0.401374	0.18493	N	0.139596	T	0.22244	0.0536	M	0.64997	1.995	0.42570	D	0.993178	P	0.46859	0.885	B	0.35688	0.208	T	0.10428	-1.0630	10	0.87932	D	0	.	14.0709	0.64858	0.0726:0.0:0.9274:0.0	.	509	Q711Q0-3	.	H	509	ENSP00000318713:R509H;ENSP00000363259:R509H	ENSP00000318713:R509H	R	+	2	0	C10orf71	50202122	0.918000	0.31147	0.862000	0.33874	0.940000	0.58332	3.531000	0.53546	1.320000	0.45209	0.586000	0.80456	CGT		0.493	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		50	121	0	0	0	1	0	50	121					A	50532116	G	A	50532116	3	1	56	1	0	0	0	0	1	0	0	0	1619	1145	40	1	1528	1	C10orf71	10	50532116	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		50532116	85002631	60	6852											
CSTF2T	23283	broad.mit.edu	37	chr10	53458724	53458724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcagtggtgtgacatGtatcttccgatgcagaattt	12	6	2	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:53458724G>T	ENST00000331173.4	-	1	631	c.586C>A	c.(586-588)Cat>Aat	p.H196N	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	196					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTGTGACATGTATCTTCCGA	0.512																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(586-588)Cat>Aat		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							142	122	129					10																	53458724		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458724G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.586C>A	10.37:g.53458724G>T	ENSP00000332444:p.His196Asn					PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	p.H196N	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	631	-			196					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.586C>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	0.601	-0.829212	0.02734	.	.	ENSG00000177613	ENST00000331173	T	0.19669	2.13	5.1	4.13	0.48395	.	0.669626	0.15530	N	0.257547	T	0.05410	0.0143	N	0.00583	-1.355	0.25045	N	0.991177	B	0.09022	0.002	B	0.01281	0.0	T	0.29397	-1.0013	10	0.09590	T	0.72	-4.1716	10.3859	0.44140	0.0:0.0:0.8051:0.1949	.	196	Q9H0L4	CSTFT_HUMAN	N	196	ENSP00000332444:H196N	ENSP00000332444:H196N	H	-	1	0	CSTF2T	53128730	0.160000	0.22878	0.948000	0.38648	0.987000	0.75469	1.930000	0.40124	2.824000	0.97209	0.655000	0.94253	CAT		0.512	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		94	195	1	0	1.55521e-42	1	1.70101e-42	94	195					T	53458724	G	T	53458724	3	4	56	1	0	0	0	0	1	0	0	0	3996	1377	48	3	1268	3	CSTF2T	10	53458724	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2926608	53458724	82076023	61	6853											
GOT1	2805	broad.mit.edu	37	chr10	101166530	101166530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtgttcttgttgtttgttCcattgtaccaacgcgctaag	10	8	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101166530C>A	ENST00000370508.5	-	3	404	c.377G>T	c.(376-378)gGa>gTa	p.G126V	GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	126					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GTTGTTTGTTCCATTGTACCA	0.468																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(376-378)gGa>gTa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						208	157	174					10																	101166530		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101166530C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.377G>T	10.37:g.101166530C>A	ENSP00000359539:p.Gly126Val					GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	p.G126V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	3	404	-		Ovarian(717;0.028)|Colorectal(252;0.234)	126					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.377G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596653	0.86953	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.20738	2.05;2.05	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.33137	0.985	0.80722	D	1	B	0.25772	0.134	B	0.27608	0.081	T	0.05733	-1.0867	10	0.17369	T	0.5	-3.717	19.9135	0.97033	0.0:1.0:0.0:0.0	.	126	P17174	AATC_HUMAN	V	126;79;105	ENSP00000359539:G126V;ENSP00000445578:G105V	ENSP00000359539:G126V	G	-	2	0	GOT1	101156520	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	7.379000	0.79691	2.807000	0.96579	0.549000	0.68633	GGA		0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		52	100	1	0	6.08268e-21	1	6.45133e-21	52	100					A	101166530	C	A	101166530	3	1	56	1	0	0	0	0	1	0	0	0	6608	855	30	3	892	3	GOT1	10	101166530	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	47707806	101166530	34368217	62	6854											
ABCC2	1244	broad.mit.edu	37	chr10	101563916	101563916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgttctacagattgtcttAtctatcttcttcctatggag	7	8	5	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101563916A>G	ENST00000370449.4	+	10	1463	c.1350A>G	c.(1348-1350)ttA>ttG	p.L450L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	450	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATTGTCTTATCTATCTTCT	0.463																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1348-1350)ttA>ttG		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						233	193	206					10																	101563916		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101563916A>G	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1350A>G	10.37:g.101563916A>G							p.L450L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	10	1463	+		Colorectal(252;0.234)	450			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.1350A>G	CCDS7484.1																																																																																				0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		50	242	0	0	0	1	0	50	242					G	101563916	A	G	101563916	2	3	56	1	0	0	0	0	0	0	0	1	53	446	16	4		4	ABCC2	10	101563916	Silent	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	397386	101563916	33970831	63	6855											
IGSF22	283284	broad.mit.edu	37	chr11	18738333	18738333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagcagagaactcgccGctgtcactgagtctggcatc	11	14	3	2	rs373454145	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:18738333G>A	ENST00000513874.1	-	10	1327	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	396										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGAACTCGCCGCTGTCACTGA	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21987	0.0		0.0	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1186-1188)agC>agT		immunoglobulin superfamily, member 22		G		6,4028		0,6,2011	152	150	151		1188	-7.4	0	11		151	0,8358		0,0,4179	no	coding-synonymous	IGSF22	NM_173588.3		0,6,6190	AA,AG,GG		0.0,0.1487,0.0484		396/1327	18738333	6,12386	2017	4179	6196	SO:0001819	synonymous_variant	283284							g.chr11:18738333G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1188C>T	11.37:g.18738333G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.S396S	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			10	1327	-			396					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1188C>T	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		80	416	0	0	0	1	0	80	416					A	18738333	G	A	18738333	2	1	56	1	0	0	0	0	0	0	0	1	7630	1078	38	1		1	IGSF22	11	18738333	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		18738333	116268183	64	6856											
MARK2	2011	broad.mit.edu	37	chr11	63665747	63665747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttttgaatcatcccaAcataggtgagcacaagttgt	10	7	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:63665747A>G	ENST00000509502.2	+	4	696	c.233A>G	c.(232-234)aAc>aGc	p.N78S	MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S|MARK2_ENST00000402010.2_Missense_Mutation_p.N111S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCATCCCAACATAGGTGAG	0.478																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(331-333)aAc>aGc		MAP/microtubule affinity-regulating kinase 2							192	184	187					11																	63665747		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63665747A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.233A>G	11.37:g.63665747A>G	ENSP00000423974:p.Asn78Ser					MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S|MARK2_ENST00000509502.2_Missense_Mutation_p.N78S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S	p.N111S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			4	911	+			111			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.332A>G	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683613	0.88639	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.17	5.17	0.71159	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	0.62036	0.2395	M	0.80508	2.5	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.998;0.939;0.999;1.0;0.987	D;P;P;D;D;P	0.87578	0.996;0.796;0.448;0.982;0.998;0.719	T	0.67677	-0.5609	10	0.87932	D	0	.	14.1235	0.65205	1.0:0.0:0.0:0.0	.	78;78;111;111;111;111	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	111;111;111;111;78;111;111;111;111;78;78;78;78;78;78	ENSP00000385751:N111S;ENSP00000326632:N111S;ENSP00000367040:N111S;ENSP00000389184:N111S;ENSP00000367041:N78S;ENSP00000425765:N111S;ENSP00000355091:N111S;ENSP00000294247:N111S;ENSP00000444956:N78S;ENSP00000437509:N78S;ENSP00000423974:N78S;ENSP00000421075:N78S;ENSP00000386128:N78S;ENSP00000415494:N78S	ENSP00000326632:N111S	N	+	2	0	MARK2	63422323	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.117000	0.94347	2.171000	0.68590	0.460000	0.39030	AAC		0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		173	502	0	0	0	1	0	173	502					G	63665747	A	G	63665747	3	3	56	1	0	0	0	0	1	0	0	0	9354	43	2	4	346	4	MARK2	11	63665747	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	44927414	63665747	71340769	65	6857											
PACS1	55690	broad.mit.edu	37	chr11	65978666	65978666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgcaaaggagaaaacGttacaagaatcggaccatct	9	9	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:65978666G>A	ENST00000320580.4	+	4	629	c.596G>A	c.(595-597)cGt>cAt	p.R199H		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	199				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGGAGAAAACGTTACAAGAAT	0.488																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(595-597)cGt>cAt		phosphofurin acidic cluster sorting protein 1							218	185	196					11																	65978666		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65978666G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.596G>A	11.37:g.65978666G>A	ENSP00000316454:p.Arg199His						p.R199H	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			4	629	+			199	Missing (in Ref. 2; BAC04831).				Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.596G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929309	0.92389	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.37584	1.19	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	T	0.72721	-0.4208	10	0.87932	D	0	-12.2263	17.1232	0.86707	0.0:0.0:1.0:0.0	.	199;199	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	H	199;96;101	ENSP00000316454:R199H	ENSP00000316454:R199H	R	+	2	0	PACS1	65735242	1.000000	0.71417	0.980000	0.43619	0.820000	0.46376	9.152000	0.94680	2.659000	0.90383	0.313000	0.20887	CGT		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	706	0	0	0	1	0	6	706					A	65978666	G	A	65978666	3	1	56	1	0	0	0	0	1	0	0	0	11414	1145	40	1	610	1	PACS1	11	65978666	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2312919	65978666	69027850	66	6858											
RNF169	254225	broad.mit.edu	37	chr11	74521280	74521280	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaagatcaaatccacAagctgttaccagaggataca	7	11	2	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:74521280A>T	ENST00000299563.4	+	3	641	c.628A>T	c.(628-630)Aag>Tag	p.K210*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	210					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TCAAATCCACAAGCTGTTACC	0.348																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(628-630)Aag>Tag		ring finger protein 169							108	102	104					11																	74521280		1810	4072	5882	SO:0001587	stop_gained	254225						zinc ion binding	g.chr11:74521280A>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.628A>T	11.37:g.74521280A>T	ENSP00000299563:p.Lys210*						p.K210*	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			3	641	+			210					Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	c.628A>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909386	0.92107	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.89	5.89	0.94794	.	0.177649	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.116	12.7076	0.57070	1.0:0.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000299563:K210X	K	+	1	0	RNF169	74198928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.003000	0.63959	2.254000	0.74563	0.533000	0.62120	AAG		0.348	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		5	417	0	0	0	1	0	5	417					T	74521280	A	T	74521280	4	4	56	1	0	0	0	0	0	1	0	0	13510	131	5	5	638	5	RNF169	11	74521280	Nonsense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08	8542614	74521280	60485236	67	6859											
C11orf87	399947	broad.mit.edu	37	chr11	109294680	109294680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgagcgggatcactgcagCggcagccgcggtggcggggg	20	10	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:109294680C>T	ENST00000327419.6	+	2	724	c.321C>T	c.(319-321)agC>agT	p.S107S	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	107						integral component of membrane (GO:0016021)		p.S107S(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATCACTGCAGCGGCAGCCGCG	0.642																																						ENST00000327419.6																			1	Substitution - coding silent(1)	p.S107S(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(319-321)agC>agT		chromosome 11 open reading frame 87							80	83	82					11																	109294680		2201	4298	6499	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294680C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.321C>T	11.37:g.109294680C>T						RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.S107S	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	724	+			107					B4E169	Silent	SNP	ENST00000327419.6	37	c.321C>T	CCDS31672.1																																																																																				0.642	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		99	286	0	0	0	1	0	99	286					T	109294680	C	T	109294680	2	4	56	1	0	0	0	0	0	0	0	1	1674	767	27	1		1	C11orf87	11	109294680	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	34773400	109294680	25711836	68	6860											
BCO2	83875	broad.mit.edu	37	chr11	112050059	112050059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtctttgggcagtgtcgGggtctgccatgtgttgcacc	15	11	2	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:112050059G>A	ENST00000357685.5	+	2	282	c.147G>A	c.(145-147)cgG>cgA	p.R49R	BCO2_ENST00000438022.1_Silent_p.R15R|BCO2_ENST00000531169.1_Silent_p.R15R|BCO2_ENST00000526088.1_Silent_p.R15R|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000361053.4_Silent_p.R49R|AP002884.3_ENST00000532612.1_Silent_p.R20R|BCO2_ENST00000393032.2_Silent_p.R15R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGCAGTGTCGGGGTCTGCCAT	0.488																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(145-147)cgG>cgA		beta-carotene oxygenase 2							83	85	84					11																	112050059		2201	4297	6498	SO:0001819	synonymous_variant	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050059G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.147G>A	11.37:g.112050059G>A						BCO2_ENST00000526088.1_Silent_p.R15R|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Silent_p.R15R|BCO2_ENST00000393032.2_Silent_p.R15R|BCO2_ENST00000361053.4_Silent_p.R49R|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000438022.1_Silent_p.R15R	p.R49R			Q9BYV7	BCDO2_HUMAN			2	282	+			49					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	c.147G>A	CCDS8358.2																																																																																				0.488	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		5	402	0	0	0	1	0	5	402					A	112050059	G	A	112050059	2	1	56	1	0	0	0	0	0	0	0	1	1386	1219	43	2		2	BCO2	11	112050059	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2755379	112050059	22956457	69	6861											
PCSK7	9159	broad.mit.edu	37	chr11	117079612	117079612	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgggcgggtgtacataCgagtccatgctgcggggggc	18	11	0	0	rs145370185	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:117079612C>T	ENST00000320934.3	-	13	2322		c.e13+1		PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Splice_Site	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGTACATACGAGTCCATGC	0.582			T	IGH@	MLCLS								C|||	6	0.00119808	0.0008	0.0029	5008	,	,		28569	0.0		0.002	False		,,,				2504	0.001					ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.e13+1		proprotein convertase subtilisin/kexin type 7		C		2,4400	2.1+/-5.4	0,2,2199	33	36	35			4.6	1	11	dbSNP_134	35	17,8575	11.2+/-40.8	0,17,4279	no	splice-5	PCSK7	NM_004716.2		0,19,6478	TT,TC,CC		0.1979,0.0454,0.1462			117079612	19,12975	2201	4296	6497	SO:0001630	splice_region_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117079612C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1691+1G>A	11.37:g.117079612C>T						PCSK7_ENST00000540028.1_Splice_Site		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	13	2322	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Splice_Site	SNP	ENST00000320934.3	37		CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637607	0.29157	4.54E-4	0.001979	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0225	0.58796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK7	116584822	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	7.075000	0.76798	2.531000	0.85337	0.467000	0.42956	.		0.582	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716	Intron	13	57	0	0	0	1	0	13	57					T	117079612	C	T	117079612	5	4	56	1	0	0	0	0	0	0	1	0	11647	550	19	1	685	1	PCSK7	11	117079612	Splice_Site	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	5029553	117079612	17926904	70	6862											
B3GAT1	27087	broad.mit.edu	37	chr11	134253672	134253672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcgcgcagccagcGcagggccaggttgcgctgca	16	13	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:134253672G>A	ENST00000524765.1	-	3	5067	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	175					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCAGCCAGCGCAGGGCCAGG	0.682																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(523-525)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							30	25	27					11																	134253672		2197	4289	6486	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253672G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.523C>T	11.37:g.134253672G>A	ENSP00000433847:p.Arg175Cys					B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C	p.R175C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	5067	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	175					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.523C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765228	0.69878	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.74647	2.275	0.80722	D	1	B;B	0.24576	0.106;0.055	B;B	0.19666	0.015;0.026	T	0.63545	-0.6613	10	0.59425	D	0.04	-29.3285	14.2768	0.66184	0.0:0.0:0.815:0.185	.	188;175	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	175;175;175;188	ENSP00000376359:R175C;ENSP00000307875:R175C;ENSP00000433847:R175C;ENSP00000445983:R188C	ENSP00000307875:R175C	R	-	1	0	B3GAT1	133758882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.623000	0.88846	0.561000	0.74099	CGC		0.682	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		8	37	0	0	0	1	0	8	37					A	134253672	G	A	134253672	3	1	56	1	0	0	0	0	1	0	0	0	1254	1087	38	1	493	1	B3GAT1	11	134253672	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	17174060	134253672	752844	71	6863											
ZNF384	171017	broad.mit.edu	37	chr12	6778208	6778208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcactgatgtgtatgCccgactgcagatagtgcagg	12	10	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:6778208C>T	ENST00000396801.3	-	10	1528	c.1321G>A	c.(1321-1323)Gca>Aca	p.A441T	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.A380T|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.A441T|ZNF384_ENST00000355772.4_Missense_Mutation_p.A325T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A364T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A380T	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	441					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GATGTGTATGCCCGACTGCAG	0.522			T	"EWSR1, TAF15 "	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1138-1140)Gca>Aca		zinc finger protein 384							211	154	173					12																	6778208		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6778208C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1321G>A	12.37:g.6778208C>T	ENSP00000380019:p.Ala441Thr					ZNF384_ENST00000396801.3_Missense_Mutation_p.A441T|ZNF384_ENST00000355772.4_Missense_Mutation_p.A325T|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.A441T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A380T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A364T	p.A380T			Q8TF68	ZN384_HUMAN			8	1635	-			441					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1138G>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213753	0.58452	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.169035	0.53938	D	0.000052	T	0.55893	0.1949	N	0.20328	0.56	0.47778	D	0.999518	P;P;D;D	0.71674	0.843;0.607;0.996;0.998	B;B;D;D	0.78314	0.388;0.146;0.987;0.991	T	0.55592	-0.8117	10	0.40728	T	0.16	-11.8599	19.2495	0.93917	0.0:1.0:0.0:0.0	.	441;325;364;380	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	T	364;380;441;441;325;380	ENSP00000321650:A364T;ENSP00000380013:A380T;ENSP00000380019:A441T;ENSP00000354592:A441T;ENSP00000348018:A325T;ENSP00000380017:A380T	ENSP00000321650:A364T	A	-	1	0	ZNF384	6648469	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	2.728000	0.47319	2.785000	0.95823	0.591000	0.81541	GCA		0.522	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			4	195	0	0	0	1	0	4	195					T	6778208	C	T	6778208	3	4	56	1	0	0	0	0	1	0	0	0	17928	739	26	2	420	2	ZNF384	12	6778208	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08		6778208	127073687	72	6864											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		48	170	1	0	1.04682e-39	1	1.13785e-39	48	170					A	25398284	C	A	25398284	3	1	56	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	18620076	25398284	108453611	73	6865											
KLHDC5	57542	broad.mit.edu	37	chr12	27950726	27950726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgtgacgtccacattcGcaagcagcagatggtgtctg	11	10	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:27950726G>A	ENST00000381271.2	+	3	1456	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	382					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTCCACATTCGCAAGCAGCAG	0.542																																						ENST00000381271.2																			0											c.(1144-1146)cGc>cAc		kelch-like family member 42							159	154	156					12																	27950726		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950726G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1145G>A	12.37:g.27950726G>A	ENSP00000370671:p.Arg382His						p.R382H	NM_020782.1	NP_065833.1					3	1456	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1145G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536505	0.85812	.	.	ENSG00000087448	ENST00000381271	T	0.67523	-0.27	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73297	-0.4027	10	0.15066	T	0.55	.	17.9151	0.88947	0.0:0.0:1.0:0.0	.	382	Q9P2K6	KLDC5_HUMAN	H	382	ENSP00000370671:R382H	ENSP00000370671:R382H	R	+	2	0	KLHDC5	27841993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.193000	0.94954	2.452000	0.82932	0.561000	0.74099	CGC		0.542	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		8	1014	0	0	0	1	0	8	1014					A	27950726	G	A	27950726	3	1	56	1	0	0	0	0	1	0	0	0	8389	1087	38	1	1155	1	KLHDC5	12	27950726	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2552442	27950726	105901169	74	6866											
KRT82	3888	broad.mit.edu	37	chr12	52793858	52793858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgatgatgccgtccaCgtccagctcccggctgttgt	11	15	1	1	rs529536223		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:52793858C>T	ENST00000257974.2	-	5	930	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	285	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.V285M(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCCGTCCACGTCCAGCTCC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20645	0.0		0.0	False		,,,				2504	0.0					ENST00000257974.2																			1	Substitution - Missense(1)	p.V285M(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(853-855)Gtg>Atg		keratin 82							102	86	92					12																	52793858		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793858C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.853G>A	12.37:g.52793858C>T	ENSP00000257974:p.Val285Met					RP3-416H24.4_ENST00000547174.1_RNA	p.V285M	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	930	-			285			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.853G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181497	0.01633	.	.	ENSG00000161850	ENST00000257974	D	0.88586	-2.4	5.18	1.04	0.20106	Filament (1);	0.532611	0.15770	N	0.245495	T	0.53916	0.1826	N	0.00186	-1.895	0.27603	N	0.948893	B	0.24533	0.105	B	0.21151	0.033	T	0.58393	-0.7644	10	0.10111	T	0.7	.	1.6566	0.02782	0.1103:0.3451:0.2299:0.3147	.	285	Q9NSB4	KRT82_HUMAN	M	285	ENSP00000257974:V285M	ENSP00000257974:V285M	V	-	1	0	KRT82	51080125	0.002000	0.14202	0.002000	0.10522	0.523000	0.34469	-0.851000	0.04313	0.300000	0.22699	0.561000	0.74099	GTG		0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		6	262	0	0	0	1	0	6	262					T	52793858	C	T	52793858	3	4	56	1	0	0	0	0	1	0	0	0	8526	536	19	1	708	1	KRT82	12	52793858	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	24843132	52793858	81058037	75	6867											
KIF5A	3798	broad.mit.edu	37	chr12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-													aaatggagcccgaagacagtGgggggattcactcccaaaag							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2461-2463)ggfs		kinesin family member 5A							98	97	97					12																	57972048		2203	4300	6503	SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972048delG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2461delG	12.37:g.57972048delG	ENSP00000408979:p.Gly822fs					KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	p.G822fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2735	+			822					A6H8M5|Q4LE26	Frame_Shift_Del	DEL	ENST00000455537.2	37	c.2461delG	CCDS8945.1																																																																																				0.502	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	797						7	797	---	---	---	---	-	57972048	G	-	57972048	7	5	56	1	0	1	0	1	0	0	0	0	8335	1348	47	0	2551	0	KIF5A	12	57972048	Frame_Shift_Del	DEL	G	TCGA-FB-AAQ6-01A-11D-A40W-08	5178190	57972048	75879847	76	6868											
C12orf66	144577	broad.mit.edu	37	chr12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgaagtatagatggtgCggatggaatccttcctgctg	13	7	0	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:64609707C>T	ENST00000398055.3	-	2	325	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C12orf66_ENST00000311915.8_Missense_Mutation_p.R91H|C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	91								p.R91H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATAGATGGTGCGGATGGAATC	0.507																																						ENST00000311915.8																			1	Substitution - Missense(1)	p.R91H(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(271-273)cGc>cAc		chromosome 12 open reading frame 66							48	51	50					12																	64609707		1993	4161	6154	SO:0001583	missense	144577							g.chr12:64609707C>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.272G>A	12.37:g.64609707C>T	ENSP00000381132:p.Arg91His					C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H|C12orf66_ENST00000398055.3_Missense_Mutation_p.R91H	p.R91H			Q96MD2	CL066_HUMAN			2	299	-			91					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.272G>A	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605524	0.87157	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.42131	0.98;0.98;0.98	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.98;0.999	P;D	0.64144	0.586;0.922	T	0.57631	-0.7778	9	.	.	.	-9.8646	14.7258	0.69343	0.0:0.9305:0.0:0.0695	.	38;91	F5H2Q3;Q96MD2	.;CL066_HUMAN	H	91;38;91	ENSP00000311486:R91H;ENSP00000445481:R38H;ENSP00000381132:R91H	.	R	-	2	0	C12orf66	62895974	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.518000	0.81795	1.428000	0.47296	0.491000	0.48974	CGC		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		27	96	0	0	0	1	0	27	96					T	64609707	C	T	64609707	3	4	56	1	0	0	0	0	1	0	0	0	1714	768	27	1	1073	1	C12orf66	12	64609707	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	6637659	64609707	69242188	77	6869											
KCNC2	3747	broad.mit.edu	37	chr12	75601178	75601178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggcccccgagccccgCcgcgtcctcgatgcccagcc	13	21	0	0	rs201721348		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:75601178C>T	ENST00000549446.1	-	2	1266	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	196					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCGAGCCCCGCCGCGTCCTCG	0.716																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(586-588)Gcg>Acg		potassium voltage-gated channel, Shaw-related subfamily, member 2							9	9	9					12																	75601178		2158	4207	6365	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601178C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.586G>A	12.37:g.75601178C>T	ENSP00000449253:p.Ala196Thr					KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T	p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	1266	-			196					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.586G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621045	0.28889	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97328	-4.33;-4.33;-4.32;-4.33;-4.33;-4.32;-4.32;-4.34	4.44	2.54	0.30619	.	.	.	.	.	D	0.92264	0.7546	N	0.08118	0	0.39638	D	0.970289	B;P;B;P;B	0.40332	0.403;0.551;0.411;0.713;0.051	B;B;B;P;B	0.46299	0.04;0.356;0.08;0.511;0.062	D	0.87929	0.2709	9	0.21540	T	0.41	.	9.6841	0.40087	0.1599:0.6863:0.1538:0.0	.	196;196;196;196;196	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	T	196	ENSP00000448301:A196T;ENSP00000449941:A196T;ENSP00000449253:A196T;ENSP00000340121:A196T;ENSP00000298972:A196T;ENSP00000319877:A196T;ENSP00000438423:A196T;ENSP00000376966:A196T	ENSP00000298972:A196T	A	-	1	0	KCNC2	73887445	0.222000	0.23652	0.681000	0.30009	0.804000	0.45430	1.796000	0.38794	0.557000	0.29117	-0.165000	0.13383	GCG		0.716	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		13	33	0	0	0	1	0	13	33					T	75601178	C	T	75601178	3	4	56	1	0	0	0	0	1	0	0	0	8045	739	26	2	1412	2	KCNC2	12	75601178	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	10991471	75601178	58250717	78	6870											
C12orf51	283450	broad.mit.edu	37	chr12	112632807	112632807	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaggcaacttcggggcgaaGatattgagcagggccatgcg	16	8	0	3			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:112632807G>A	ENST00000430131.2	-	55	8510	c.7365C>T	c.(7363-7365)atC>atT	p.I2455I	HECTD4_ENST00000377560.5_Silent_p.I2705I|HECTD4_ENST00000550722.1_Silent_p.I2731I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2455					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCGGGGCGAAGATATTGAGCA	0.597																																						ENST00000550722.1																			0											c.(8191-8193)atC>atT		HECT domain containing E3 ubiquitin protein ligase 4							54	59	57					12																	112632807		2130	4253	6383	SO:0001819	synonymous_variant	283450							g.chr12:112632807G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7365C>T	12.37:g.112632807G>A						HECTD4_ENST00000430131.2_Silent_p.I2455I|HECTD4_ENST00000377560.5_Silent_p.I2705I	p.I2731I	NM_001109662.3	NP_001103132.3					56	8588	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.8193C>T																																																																																					0.597	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		20	61	0	0	0	1	0	20	61					A	112632807	G	A	112632807	2	1	56	1	0	0	0	0	0	0	0	1	1701	932	33	2		2	C12orf51	12	112632807	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	37031629	112632807	21219088	79	6871											
ABCC4	10257	broad.mit.edu	37	chr13	95696015	95696016	+	Frame_Shift_Ins	INS	-	-	T													gtgggcaaatttctcccggaINStttttttttgtattaactca							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:95696015_95696016insT	ENST00000376887.4	-	29	3769_3770	c.3655_3656insA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Ins_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTTCTCCCGGATTTTTTTTTGT	0.376																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)ccgfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)																																			SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696015_95696016insT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3656dupA	13.37:g.95696024_95696024dupT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Ins_p.P1172fs	p.P1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769_3770	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Ins	INS	ENST00000376887.4	37	c.3655_3656insA	CCDS9474.1																																																																																				0.376	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		8	500						8	500	---	---	---	---	T	95696016	-	T	95696015	7	5	56	1	0	1	1	0	0	0	0	0	55	333	12	0	333	0	ABCC4	13	95696015	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08		95696015	19473863	80	6872											
ZIC5	85416	broad.mit.edu	37	chr13	100622524	100622524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggccttgaagggcttgCcctcgcgcggacagtcctcc	12	14	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:100622524C>T	ENST00000267294.4	-	1	1639	c.1406G>A	c.(1405-1407)gGc>gAc	p.G469D		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	469					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGGGCTTGCCCTCGCGCGG	0.637																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1405-1407)gGc>gAc		Zic family member 5							125	114	118					13																	100622524		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622524C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1406G>A	13.37:g.100622524C>T	ENSP00000267294:p.Gly469Asp						p.G469D	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1639	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		469					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1406G>A	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479834	0.84747	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.35236	1.32	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56124	0.1964	L	0.60845	1.875	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.60865	-0.7178	9	0.66056	D	0.02	.	15.2876	0.73838	0.0:1.0:0.0:0.0	.	469	Q96T25	ZIC5_HUMAN	D	107;469	ENSP00000267294:G469D	ENSP00000267294:G469D	G	-	2	0	ZIC5	99420525	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.656000	0.67988	1.852000	0.53769	0.313000	0.20887	GGC		0.637	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	413	0	0	0	1	0	5	413					T	100622524	C	T	100622524	3	4	56	1	0	0	0	0	1	0	0	0	17735	739	26	2	593	2	ZIC5	13	100622524	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	4926509	100622524	14547354	81	6873											
DAAM1	23002	broad.mit.edu	37	chr14	59793694	59793695	+	Frame_Shift_Ins	INS	-	-	A													gcagtggaaagaacaagcggINSaaaaaatgagaaaaggtaaa							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:59793694_59793695insA	ENST00000395125.1	+	11	1380_1381	c.1357_1358insA	c.(1357-1359)gaafs	p.E453fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E453fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E453fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	453					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAACAAGCGGAAAAAATGAGA	0.342																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1357-1359)aaafs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59793694_59793695insA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1363dupA	14.37:g.59793700_59793700dupA	ENSP00000378557:p.Glu453fs					DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.K453fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.K453fs	p.K453fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	11	1380_1381	+			453					Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.1357_1358insA	CCDS9737.1																																																																																				0.342	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		101	336						101	336	---	---	---	---	A	59793695	-	A	59793694	7	5	56	1	0	1	1	0	0	0	0	0	4226	1175	41	0	1399	0	DAAM1	14	59793694	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08		59793694	47555846	82	6874											
EIF2B2	8892	broad.mit.edu	37	chr14	75472642	75472642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgatgctgccatttttgCcgttatgtcaagagtcaaca	9	9	2	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:75472642C>T	ENST00000266126.5	+	5	751	c.671C>T	c.(670-672)gCc>gTc	p.A224V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	224					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCCATTTTTGCCGTTATGTCA	0.383																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(670-672)gCc>gTc		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							289	283	285					14																	75472642		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75472642C>T		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.671C>T	14.37:g.75472642C>T	ENSP00000266126:p.Ala224Val					RP11-950C14.3_ENST00000554430.1_RNA	p.A224V	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	5	751	+			224					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.671C>T	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048482	0.93740	.	.	ENSG00000119718	ENST00000266126;ENST00000554748	D	0.92752	-3.1	5.53	5.53	0.82687	.	0.049338	0.85682	D	0.000000	D	0.96944	0.9002	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97145	0.9827	10	0.87932	D	0	-11.3027	19.6556	0.95837	0.0:1.0:0.0:0.0	.	224	P49770	EI2BB_HUMAN	V	224;12	ENSP00000266126:A224V	ENSP00000266126:A224V	A	+	2	0	EIF2B2	74542395	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.773000	0.68898	2.882000	0.98803	0.655000	0.94253	GCC		0.383	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		8	1160	0	0	0	1	0	8	1160					T	75472642	C	T	75472642	3	4	56	1	0	0	0	0	1	0	0	0	5017	739	26	2	689	2	EIF2B2	14	75472642	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	15678948	75472642	31876898	83	6875											
TRPM1	4308	broad.mit.edu	37	chr15	31334358	31334358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggatactggaaccgaCtcacggcagggtcgtccaca	14	11	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:31334358C>A	ENST00000256552.6	-	17	2030	c.1883G>T	c.(1882-1884)aGt>aTt	p.S628I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000542188.1_Missense_Mutation_p.S645I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGAACCGACTCACGGCAGG	0.517																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1933-1935)aGt>aTt		transient receptor potential cation channel, subfamily M, member 1							67	75	72					15																	31334358		2168	4279	6447	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334358C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1883G>T	15.37:g.31334358C>A	ENSP00000256552:p.Ser628Ile					RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000256552.6_Missense_Mutation_p.S628I	p.S645I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2247	-		all_lung(180;1.92e-11)	606						Missense_Mutation	SNP	ENST00000256552.6	37	c.1934G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240885	0.79912	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.69926	-0.44;-0.44;-0.44	4.72	4.72	0.59763	.	0.042793	0.85682	D	0.000000	T	0.62196	0.2408	L	0.40543	1.245	0.80722	D	1	B;P	0.34934	0.137;0.476	B;B	0.36186	0.219;0.157	T	0.67995	-0.5526	10	0.87932	D	0	-20.8878	18.0463	0.89334	0.0:1.0:0.0:0.0	.	600;606	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	606;645;628;606	ENSP00000380897:S606I;ENSP00000437849:S645I;ENSP00000256552:S628I	ENSP00000256552:S628I	S	-	2	0	TRPM1	29121650	1.000000	0.71417	0.905000	0.35620	0.749000	0.42624	7.743000	0.85020	2.304000	0.77564	0.655000	0.94253	AGT		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		40	81	1	0	1.06522e-23	1	1.13667e-23	40	81					A	31334358	C	A	31334358	3	1	56	1	0	0	0	0	1	0	0	0	16638	565	20	3	3042	3	TRPM1	15	31334358	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08		31334358	71197034	84	6876											
LCMT2	9836	broad.mit.edu	37	chr15	43621570	43621570	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgctctccaaatcctcctGcactgagaataacgtctggg	8	14	2	1	rs371016069		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:43621570G>C	ENST00000305641.5	-	1	1233	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	373					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAATCCTCCTGCACTGAGAAT	0.547																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1117-1119)gCa>gGa		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						54	53	53					15																	43621570		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621570G>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1118C>G	15.37:g.43621570G>C	ENSP00000307214:p.Ala373Gly					LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR	p.A373G	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1233	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	373					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1118C>G	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998347	0.35226	.	.	ENSG00000168806	ENST00000305641	T	0.74526	-0.85	5.54	4.62	0.57501	.	0.176134	0.48767	D	0.000180	T	0.64821	0.2633	L	0.47716	1.5	0.31690	N	0.642009	B	0.28128	0.201	B	0.27608	0.081	T	0.65001	-0.6274	10	0.23302	T	0.38	-14.2982	10.1028	0.42515	0.0895:0.0:0.9105:0.0	.	373	O60294	LCMT2_HUMAN	G	373	ENSP00000307214:A373G	ENSP00000307214:A373G	A	-	2	0	LCMT2	41408862	0.163000	0.22920	0.377000	0.26055	0.889000	0.51656	2.230000	0.42999	1.573000	0.49748	0.655000	0.94253	GCA		0.547	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		67	141	0	0	0	1	0	67	141					C	43621570	G	C	43621570	3	2	56	1	0	0	0	0	1	0	0	0	8710	1319	46	5	946	5	LCMT2	15	43621570	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	12287212	43621570	58909822	85	6877											
CHRNB4	1143	broad.mit.edu	37	chr15	78921685	78921685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgctgggcgagcggTggtgcacattgagcacacag	18	8	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78921685T>G	ENST00000261751.3	-	5	1073	c.962A>C	c.(961-963)cAc>cCc	p.H321P	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	321					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGGCGAGCGGTGGTGCACATT	0.607																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(961-963)cAc>cCc		cholinergic receptor, nicotinic, beta 4 (neuronal)							105	91	96					15																	78921685		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921685T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.962A>C	15.37:g.78921685T>G	ENSP00000261751:p.His321Pro					CHRNB4_ENST00000412074.2_Intron	p.H321P	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1073	-			321					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.962A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366726	0.82463	.	.	ENSG00000117971	ENST00000261751	T	0.72282	-0.64	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93552	0.6887	10	0.72032	D	0.01	.	15.3749	0.74596	0.0:0.0:0.0:1.0	.	321	P30926	ACHB4_HUMAN	P	321	ENSP00000261751:H321P	ENSP00000261751:H321P	H	-	2	0	CHRNB4	76708740	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	CAC		0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			64	156	0	0	0	1	0	64	156					G	78921685	T	G	78921685	3	3	56	1	0	0	0	0	1	0	0	0	3402	1696	59	4	542	4	CHRNB4	15	78921685	Missense_Mutation	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	35300115	78921685	23609707	86	6878											
ALPK3	57538	broad.mit.edu	37	chr15	85384098	85384098	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgccgacgccccctgccCggcggagacatggcacccgg	15	17	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2194-2196)Cgg>Agg		alpha-kinase 3							29	34	32					15																	85384098		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384098C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2194C>A	15.37:g.85384098C>A							p.R732R	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2361	+			732					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2194C>A	CCDS10333.1																																																																																				0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		57	110	1	0	5.22555e-25	1	5.61026e-25	57	110					A	85384098	C	A	85384098	2	1	56	1	0	0	0	0	0	0	0	1	546	643	23	3		3	ALPK3	15	85384098	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	6462413	85384098	17147294	87	6879											
TSC2	7249	broad.mit.edu	37	chr16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaggccttccggtgccGcagcatcagtgtgtctgaac	13	13	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000353929.4_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2932-2934)cGc>cAc		tuberous sclerosis 2							68	66	66					16																	2127694		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2127694G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2933G>A	16.37:g.2127694G>A	ENSP00000219476:p.Arg978His					TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H	p.R978H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			26	3563	+		Hepatocellular(780;0.0202)	978					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2933G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688032	0.68271	.	.	ENSG00000103197	ENST00000219476;ENST00000350773	D;D	0.93604	-3.25;-3.17	5.02	4.05	0.47172	.	0.056249	0.64402	N	0.000001	D	0.91140	0.7210	L	0.54323	1.7	0.80722	D	1	B;B	0.23442	0.085;0.033	B;B	0.24701	0.055;0.012	D	0.88509	0.3088	10	0.56958	D	0.05	-20.9918	13.802	0.63206	0.0749:0.0:0.9251:0.0	.	978;978	P49815-4;P49815	.;TSC2_HUMAN	H	978	ENSP00000219476:R978H;ENSP00000344383:R978H	ENSP00000219476:R978H	R	+	2	0	TSC2	2067695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.929000	0.87595	1.103000	0.41568	0.655000	0.94253	CGC		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		5	414	0	0	0	1	0	5	414					A	2127694	G	A	2127694	3	1	56	1	0	0	0	0	1	0	0	0	16659	1087	38	1	3031	1	TSC2	16	2127694	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		2127694	88227059	88	6880											
ZNF434	54925	broad.mit.edu	37	chr16	3434742	3434742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctctcctcactttgcgGtaactcaactgtaggctttt	8	13	3	0	rs112696062	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:3434742G>A	ENST00000396852.4	-	6	1258	c.951C>T	c.(949-951)taC>taT	p.Y317Y	ZSCAN32_ENST00000439568.2_Silent_p.Y28Y|ZSCAN32_ENST00000573830.1_Silent_p.Y28Y|ZSCAN32_ENST00000396846.3_Silent_p.Y317Y|ZSCAN32_ENST00000304926.3_Silent_p.Y105Y|ZSCAN32_ENST00000574940.1_Silent_p.Y317Y|ZSCAN32_ENST00000422427.2_Silent_p.Y105Y	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	317					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)										TCACTTTGCGGTAACTCAACT	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.0					ENST00000396852.4																			0											c.(949-951)taC>taT		zinc finger and SCAN domain containing 32		G		9,4385	15.5+/-35.6	0,9,2188	163	168	166		315	1	0	16	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	ZNF434	NM_017810.2		0,9,6488	AA,AG,GG		0.0,0.2048,0.0693		105/486	3434742	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	54925							g.chr16:3434742G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.951C>T	16.37:g.3434742G>A						ZSCAN32_ENST00000396846.3_Silent_p.Y317Y|ZSCAN32_ENST00000439568.2_Silent_p.Y28Y|ZSCAN32_ENST00000304926.3_Silent_p.Y105Y|ZSCAN32_ENST00000573830.1_Silent_p.Y28Y|ZSCAN32_ENST00000422427.2_Silent_p.Y105Y|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Silent_p.Y317Y	p.Y317Y							6	1258	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37	c.951C>T																																																																																					0.547	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		6	847	0	0	0	1	0	6	847					A	3434742	G	A	3434742	2	1	56	1	0	0	0	0	0	0	0	1	17961	1256	44	2		2	ZNF434	16	3434742	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1307048	3434742	86920011	89	6881											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524582	10524582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaataagtcaaggaatgtTgaagcgctgaaaacagcaat	10	6	1	3	rs187860514		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:10524582T>C	ENST00000396560.2	+	3	332	c.105T>C	c.(103-105)gtT>gtC	p.V35V	ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.V35V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CAAGGAATGTTGAAGCGCTGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		17610	0.0		0.001	False		,,,				2504	0.0					ENST00000396560.2																			0				large_intestine(3)	3						c.(103-105)gtT>gtC		activating transcription factor 7 interacting protein 2							82	77	78					16																	10524582		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524582T>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.105T>C	16.37:g.10524582T>C						ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron	p.V35V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	332	+			35					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.105T>C	CCDS10540.1																																																																																				0.413	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		89	199	0	0	0	1	0	89	199					C	10524582	T	C	10524582	2	2	56	1	0	0	0	0	0	0	0	1	1089	1799	63	4		4	ATF7IP2	16	10524582	Silent	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	7089840	10524582	79830171	90	6882											
LOC100132247	100132247	broad.mit.edu	37	chr16	22546277	22546277	+	Missense_Mutation	SNP	G	G	T													cctgccgagcgtctgcggggGccgcttccaccctgagcgga					rs555070486		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546277G>T	ENST00000517539.1	+	8	2048	c.1973G>T	c.(1972-1974)gGc>gTc	p.G658V	NPIPB5_ENST00000424340.1_Missense_Mutation_p.G658V|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	658	Pro-rich.					integral component of membrane (GO:0016021)											GTCTGCGGGGGCCGCTTCCAC	0.567													.|||	1	0.000199681	0.0	0.0014	5008	,	,		33394	0.0		0.0	False		,,,				2504	0.0					ENST00000424340.1																			0											c.(1972-1974)gGc>gTc		nuclear pore complex interacting protein family, member B5							3	4	4					16																	22546277		612	1437	2049	SO:0001583	missense	100132247							g.chr16:22546277G>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1973G>T	16.37:g.22546277G>T	ENSP00000430633:p.Gly658Val					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.G658V	p.G658V	NM_001135865.1	NP_001129337.1					7	2252	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1973G>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.180	-1.062670	0.01950	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.25749	1.78;1.78	.	.	.	.	.	.	.	.	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	0.30854	T	0.27	.	.	.	.	.	651;658	F5GWX0;A8MRT5	.;K220L_HUMAN	V	658;651;415;536;658	ENSP00000440703:G658V;ENSP00000430633:G658V	ENSP00000441680:G651V	G	+	2	0	RP11-368J21.2	22453778	0.001000	0.12720	.	.	.	.	-2.274000	0.01163	.	.	.	.	GGC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		10	736	1	0	0.000442599	1	0.000445143	10	736					T	22546277	G	T	22546277	3	4	56	1	0	0	0	0	1	0	0	0	8903	1203	42	3	1999	3	LOC100132247	16	22546277	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	12021695	22546277	67808476	91	6883	47	2									
LOC100132247	100132247	broad.mit.edu	37	chr16	22546279	22546279	+	Missense_Mutation	SNP	C	C	T													tgccgagcgtctgcgggggcCgcttccaccctgagcggatg					rs574902725	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546279C>T	ENST00000517539.1	+	8	2050	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NPIPB5_ENST00000424340.1_Missense_Mutation_p.R659C|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	659	Pro-rich.					integral component of membrane (GO:0016021)											CTGCGGGGGCCGCTTCCACCC	0.572													.|||	5	0.000998403	0.0	0.0014	5008	,	,		33747	0.003		0.0	False		,,,				2504	0.001					ENST00000424340.1																			0											c.(1975-1977)Cgc>Tgc		nuclear pore complex interacting protein family, member B5							3	4	4					16																	22546279		612	1437	2049	SO:0001583	missense	100132247							g.chr16:22546279C>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1975C>T	16.37:g.22546279C>T	ENSP00000430633:p.Arg659Cys					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.R659C	p.R659C	NM_001135865.1	NP_001129337.1					7	2254	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1975C>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	6.628	0.484390	0.12641	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.23950	1.88;1.88	.	.	.	.	.	.	.	.	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	B;.	0.33748	0.423;.	B;.	0.31495	0.131;.	T	0.20806	-1.0264	6	0.37606	T	0.19	.	.	.	.	.	652;659	F5GWX0;A8MRT5	.;K220L_HUMAN	C	659;652;416;537;659	ENSP00000440703:R659C;ENSP00000430633:R659C	ENSP00000441680:R652C	R	+	1	0	RP11-368J21.2	22453780	0.003000	0.15002	.	.	.	.	0.064000	0.14437	.	.	.	.	CGC		0.572	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		6	731	0	0	0	1	0	6	731					T	22546279	C	T	22546279	3	4	56	1	0	0	0	0	1	0	0	0	8903	652	23	1	2001	1	LOC100132247	16	22546279	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	2	22546279	67808474	92	6884	47	2									
EDC4	23644	broad.mit.edu	37	chr16	67913803	67913803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagcagcagcagCagtagcagcagctcccttac	12	13	0	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36	33	34					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1872C>T	16.37:g.67913803C>T							p.S624S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	192	0	0	0	1	0	6	192					T	67913803	C	T	67913803	2	4	56	1	0	0	0	0	0	0	0	1	4924	709	25	2		2	EDC4	16	67913803	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	45367524	67913803	22440950	93	6885											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	13	10	1	1	rs368249657		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56	59	58					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	284	0	0	0	1	0	5	284					A	4712837	G	A	4712837	3	1	56	1	0	0	0	0	1	0	0	0	12088	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		4712837	76482373	94	6886											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	137	0	0	0	1	0	34	137					T	7577538	C	T	7577538	3	4	56	1	0	0	0	0	1	0	0	0	16434	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	2864701	7577538	73617672	95	6887											
DNAH2	146754	broad.mit.edu	37	chr17	7735977	7735977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgagctgtgggccagCcgggcccggcctcctgtgat	15	13	0	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7735977C>T	ENST00000572933.1	+	83	14267	c.12807C>T	c.(12805-12807)agC>agT	p.S4269S	DNAH2_ENST00000389173.2_Silent_p.S4269S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4269					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGGCCAGCCGGGCCCGGC	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12805-12807)agC>agT		dynein, axonemal, heavy chain 2							108	113	111					17																	7735977		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7735977C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12807C>T	17.37:g.7735977C>T						DNAH2_ENST00000389173.2_Silent_p.S4269S	p.S4269S			Q9P225	DYH2_HUMAN			83	14267	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4269					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12807C>T	CCDS32551.1																																																																																				0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	486	0	0	0	1	0	5	486					T	7735977	C	T	7735977	2	4	56	1	0	0	0	0	0	0	0	1	4618	738	26	2		2	DNAH2	17	7735977	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	158439	7735977	73459233	96	6888											
MED1	5469	broad.mit.edu	37	chr17	37564572	37564572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgacagctgtcaaggacGgcttcttgtttctgctggga	12	9	3	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:37564572G>A	ENST00000300651.6	-	17	4125	c.3902C>T	c.(3901-3903)cCg>cTg	p.P1301L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTCAAGGACGGCTTCTTGTT	0.522										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3901-3903)cCg>cTg		mediator complex subunit 1							62	69	67					17																	37564572		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564572G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3902C>T	17.37:g.37564572G>A	ENSP00000300651:p.Pro1301Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.P1301L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4125	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1301			Interaction with TP53.|Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3902C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808847	0.70797	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	5.07	5.07	0.68467	.	.	.	.	.	T	0.62146	0.2404	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66618	-0.5878	9	0.87932	D	0	-5.6283	19.0071	0.92856	0.0:0.0:1.0:0.0	.	1301	Q15648	MED1_HUMAN	L	1301	ENSP00000300651:P1301L	ENSP00000300651:P1301L	P	-	2	0	MED1	34818098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.290000	0.96065	2.793000	0.96121	0.563000	0.77884	CCG		0.522	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		101	236	0	0	0	1	0	101	236					A	37564572	G	A	37564572	3	1	56	1	0	0	0	0	1	0	0	0	9466	1116	39	1	847	1	MED1	17	37564572	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	29828595	37564572	43630638	97	6889											
PDE6G	5148	broad.mit.edu	37	chr17	79620284	79620284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggggtgacaggtccccCggccaccctggtggctgacc	15	16	0	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:79620284C>A	ENST00000331056.5	-	2	195	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.G18W|PDE6G_ENST00000571004.1_Missense_Mutation_p.G18W|PDE6G_ENST00000573076.1_Missense_Mutation_p.G68W	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	18					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	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)		Sildenafil(DB00203)|Vardenafil(DB00862)	ACAGGTCCCCCGGCCACCCTG	0.617																																					GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1																			0				lung(2)|urinary_tract(1)	3						c.(202-204)Ggg>Tgg		phosphodiesterase 6G, cGMP-specific, rod, gamma							52	57	56					17																	79620284		2203	4300	6503	SO:0001583	missense	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620284C>A		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.52G>T	17.37:g.79620284C>A	ENSP00000328412:p.Gly18Trp					PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_Missense_Mutation_p.G18W|PDE6G_ENST00000571224.1_Missense_Mutation_p.G18W|PDE6G_ENST00000571004.1_Missense_Mutation_p.G18W	p.G68W			P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	677	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		18					Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	c.202G>T	CCDS11783.1	.	.	.	.	.	.	.	.	.	.	c	31	5.091634	0.94149	.	.	ENSG00000185527	ENST00000331056	T	0.45276	0.9	5.56	5.56	0.83823	.	0.049104	0.85682	D	0.000000	T	0.67636	0.2914	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70594	-0.4829	9	0.72032	D	0.01	.	19.0952	0.93248	0.0:1.0:0.0:0.0	.	18	P18545	CNRG_HUMAN	W	18	ENSP00000328412:G18W	ENSP00000328412:G18W	G	-	1	0	PDE6G	77230689	1.000000	0.71417	0.879000	0.34478	0.926000	0.56050	5.441000	0.66569	2.624000	0.88883	0.556000	0.70494	GGG		0.617	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			5	285	1	0	0.000602214	1	0.000602214	5	285					A	79620284	C	A	79620284	3	1	56	1	0	0	0	0	1	0	0	0	11691	652	23	3	223	3	PDE6G	17	79620284	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	42055712	79620284	1574926	98	6890											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		12	637						12	637	---	---	---	---	T	21745097	-	T	21745096	7	5	56	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08		21745096	56332152	99	6891											
SMAD4	4089	broad.mit.edu	37	chr18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T													gccctattgttactgttgatGgatacgtggacccttctgga					rs121912581		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM024126	SMAD4	M	rs121912581	c.(1054-1056)Gga>Tga		SMAD family member 4							237	199	212					18																	48591891		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591891G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1054G>T	18.37:g.48591891G>T	ENSP00000341551:p.Gly352*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*	p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1592	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	352		G -> R (in JP/HHT and JPS).	MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1054G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		112	184	1	0	1.4093e-69	1	1.57088e-69	112	184					T	48591891	G	T	48591891	4	4	56	1	0	0	0	0	0	1	0	0	14810	1349	47	3	1084	3	SMAD4	18	48591891	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	26846795	48591891	29485357	100	6892	48	2									
SMAD4	4089	broad.mit.edu	37	chr18	48591892	48591892	+	Missense_Mutation	SNP	G	G	T													ccctattgttactgttgatgGatacgtggacccttctggag					rs377767345		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591892G>T	ENST00000342988.3	+	9	1593	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V|SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTGTTGATGGATACGTGGAC	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1054-1056)gGa>gTa		SMAD family member 4							237	199	212					18																	48591892		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591892G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1055G>T	18.37:g.48591892G>T	ENSP00000341551:p.Gly352Val					SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V	p.G352V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1593	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	352		G -> R (in JP/HHT and JPS).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1055G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624653	0.87560	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98329	-4.87;-4.87	5.86	4.99	0.66335	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.048668	0.85682	D	0.000000	D	0.99193	0.9720	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	.	13.6642	0.62384	0.075:0.0:0.925:0.0	.	352	Q13485	SMAD4_HUMAN	V	352	ENSP00000341551:G352V;ENSP00000381452:G352V	ENSP00000341551:G352V	G	+	2	0	SMAD4	46845890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.828000	0.86729	1.474000	0.48178	0.563000	0.77884	GGA		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		114	181	1	0	4.61678e-68	1	5.11353e-68	114	181					T	48591892	G	T	48591892	3	4	56	1	0	0	0	0	1	0	0	0	14810	1174	41	3	1085	3	SMAD4	18	48591892	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1	48591892	29485356	101	6893	48	2									
FAM108A1	81926	broad.mit.edu	37	chr19	1881263	1881263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgcagcgaacatacatGcaggagacgcggttgccgcg	15	12	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																						ENST00000292577.7																			3	Substitution - coding silent(3)	p.C101C(3)	lung(2)|endometrium(1)								c.(301-303)tgC>tgT		abhydrolase domain containing 17A							35	39	38					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926							g.chr19:1881263G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A						ABHD17A_ENST00000250974.9_Silent_p.C101C|ABHD17A_ENST00000590661.1_Silent_p.C101C	p.C101C	NM_001130111.1	NP_001123583.1					2	736	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.303C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		7	231	0	0	0	1	0	7	231					A	1881263	G	A	1881263	2	1	56	1	0	0	0	0	0	0	0	1	5412	1311	46	2		2	FAM108A1	19	1881263	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		1881263	57247720	102	6894											
GNA15	2769	broad.mit.edu	37	chr19	3162865	3162865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatgtacaccgggtgcgtgGacggccccgagggcagcaag	18	11	0	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:3162865G>A	ENST00000262958.3	+	7	1231	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	325					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGGGTGCGTGGACGGCCCCGA	0.597											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(973-975)Gac>Aac		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							102	78	86					19																	3162865		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3162865G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.973G>A	19.37:g.3162865G>A	ENSP00000262958:p.Asp325Asn		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.D325N	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	7	1231	+		Hepatocellular(1079;0.137)	325					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.973G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	9.418	1.082262	0.20309	.	.	ENSG00000060558	ENST00000262958	D	0.88509	-2.39	3.67	2.6	0.31112	.	0.720175	0.11882	N	0.520430	T	0.80919	0.4716	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.33568	0.166	T	0.71797	-0.4484	10	0.59425	D	0.04	.	10.6388	0.45582	0.0:0.1971:0.8029:0.0	.	325	P30679	GNA15_HUMAN	N	325	ENSP00000262958:D325N	ENSP00000262958:D325N	D	+	1	0	GNA15	3113865	0.109000	0.22037	0.004000	0.12327	0.002000	0.02628	3.225000	0.51246	0.722000	0.32252	0.561000	0.74099	GAC		0.597	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		76	157	0	0	0	1	0	76	157					A	3162865	G	A	3162865	3	1	56	1	0	0	0	0	1	0	0	0	6532	1174	41	2	999	2	GNA15	19	3162865	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1281602	3162865	55966118	103	6895											
XAB2	56949	broad.mit.edu	37	chr19	7686089	7686089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgcccgctccagcttgCggcccccatagcgggcaatg	12	18	0	0	rs373454646		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:7686089C>T	ENST00000358368.4	-	13	1749	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	571					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGCTTGCGGCCCCCATA	0.627								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1711-1713)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	29	31	31		1712	3.3	1	19		31	0,8598		0,0,4299	no	missense	XAB2	NM_020196.2	29	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	571/856	7686089	2,13002	2203	4299	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7686089C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1712G>A	19.37:g.7686089C>T	ENSP00000351137:p.Arg571His					XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	p.R571H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			13	1749	-			571					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1712G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190993	0.58017	4.54E-4	0.0	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03553	3.89;3.89	4.32	3.27	0.37495	Tetratricopeptide-like helical (1);	0.079176	0.49305	D	0.000157	T	0.03136	0.0092	L	0.29908	0.895	0.35535	D	0.802571	P	0.43701	0.815	B	0.40165	0.321	T	0.51655	-0.8678	10	0.51188	T	0.08	-22.9882	6.2129	0.20640	0.0:0.7055:0.0:0.2945	.	571	Q9HCS7	SYF1_HUMAN	H	571;568	ENSP00000351137:R571H;ENSP00000438225:R568H	ENSP00000351137:R571H	R	-	2	0	XAB2	7592089	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.857000	0.39399	1.021000	0.39600	0.467000	0.42956	CGC		0.627	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	177	0	0	0	1	0	6	177					T	7686089	C	T	7686089	3	4	56	1	0	0	0	0	1	0	0	0	17472	768	27	1	883	1	XAB2	19	7686089	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	4523224	7686089	51442894	104	6896											
MUC16	94025	broad.mit.edu	37	chr19	9064926	9064926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggagatggtacccattGccgatgtggctttggttgtc	13	7	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9064926G>A	ENST00000397910.4	-	3	22723	c.22520C>T	c.(22519-22521)gCa>gTa	p.A7507V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7509	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)				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						GGTACCCATTGCCGATGTGGC	0.463																																						ENST00000397910.4																			0				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						c.(22519-22521)gCa>gTa		mucin 16, cell surface associated							169	161	163					19																	9064926		1975	4151	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064926G>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.22520C>T	19.37:g.9064926G>A	ENSP00000381008:p.Ala7507Val						p.A7507V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22723	-			7509			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22520C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.534	0.659360	0.14645	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.91	0.462	0.16695	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	.	.	.	B	0.22146	0.065	B	0.19148	0.024	T	0.18241	-1.0343	8	0.87932	D	0	.	5.4895	0.16769	0.0:0.2195:0.5554:0.2251	.	7507	B5ME49	.	V	7507	ENSP00000381008:A7507V	ENSP00000381008:A7507V	A	-	2	0	MUC16	8925926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.221000	0.17680	0.201000	0.20466	0.508000	0.49915	GCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		107	257	0	0	0	1	0	107	257					A	9064926	G	A	9064926	3	1	56	1	0	0	0	0	1	0	0	0	10014	1319	46	2	21331	2	MUC16	19	9064926	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	1378837	9064926	50064057	105	6897											
ZNF317	57693	broad.mit.edu	37	chr19	9271674	9271674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatacgggtgcgatctctgCgggaaagctttcagcgcgag	14	11	2	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9271674C>T	ENST00000247956.6	+	7	1658	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	ZNF317_ENST00000360385.3_Silent_p.C419C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCGATCTCTGCGGGAAAGCTT	0.547																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1351-1353)tgC>tgT		zinc finger protein 317							63	60	61					19																	9271674		2203	4300	6503	SO:0001819	synonymous_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271674C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1353C>T	19.37:g.9271674C>T						ZNF317_ENST00000360385.3_Silent_p.C419C	p.C451C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1658	+			451					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	c.1353C>T	CCDS12210.1																																																																																				0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		41	120	0	0	0	1	0	41	120					T	9271674	C	T	9271674	2	4	56	1	0	0	0	0	0	0	0	1	17888	776	27	1		1	ZNF317	19	9271674	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	206748	9271674	49857309	106	6898											
MYO9B	4650	broad.mit.edu	37	chr19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgactctgcacgaccGcaccaccaagtccctactgc	7	18	1	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:17295729G>A	ENST00000594824.1	+	17	2576	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R810H			Q13459	MYO9B_HUMAN	myosin IXB	810	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582																																						ENST00000595618.1																			2	Substitution - Missense(2)	p.R810H(2)	endometrium(2)	breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(2428-2430)cGc>cAc		myosin IXB							127	140	135					19																	17295729		2138	4262	6400	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17295729G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2429G>A	19.37:g.17295729G>A	ENSP00000471367:p.Arg810His					MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000594824.1_Missense_Mutation_p.R810H	p.R810H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			17	2581	+			810			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.2429G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.871098	0.91587	.	.	ENSG00000099331	ENST00000397274	T	0.72835	-0.69	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000056	D	0.84220	0.5424	M	0.77313	2.365	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.964;0.964;1.0	D	0.84405	0.0562	10	0.42905	T	0.14	.	17.579	0.87960	0.0:0.0:1.0:0.0	.	810;810;816	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	810	ENSP00000380444:R810H	ENSP00000380444:R810H	R	+	2	0	MYO9B	17156729	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	9.674000	0.98633	2.395000	0.81488	0.561000	0.74099	CGC		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	423	0	0	0	1	0	5	423					A	17295729	G	A	17295729	3	1	56	1	0	0	0	0	1	0	0	0	10126	1087	38	1	2491	1	MYO9B	19	17295729	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	8024055	17295729	41833254	107	6899											
ZNF737	100129842	broad.mit.edu	37	chr19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattatcttatgtgta	8	5	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(838-840)aCt>aGt		zinc finger protein 737							35	35	35					19																	20728170		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728170G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.839C>G	19.37:g.20728170G>C	ENSP00000395733:p.Thr280Ser						p.T280S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	933	-			280					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.839C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.999	0.755032	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.24151	1.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.08492	0.0211	N	0.01257	-0.925	0.26687	N	0.97143	B	0.11235	0.004	B	0.20577	0.03	T	0.29852	-0.9998	9	0.56958	D	0.05	.	6.1513	0.20313	0.0:0.3233:0.6767:0.0	.	280	C9JHM3	.	S	280	ENSP00000395733:T280S	ENSP00000395733:T280S	T	-	2	0	ZNF737	20520010	0.013000	0.17824	0.087000	0.20705	0.088000	0.18126	0.098000	0.15189	-1.262000	0.02459	-1.289000	0.01358	ACT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		6	296	0	0	0	1	0	6	296					C	20728170	G	C	20728170	3	2	56	1	0	0	0	0	1	0	0	0	18179	1029	36	5	775	5	ZNF737	19	20728170	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	3432441	20728170	38400813	108	6900											
PRX	57716	broad.mit.edu	37	chr19	40901569	40901569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatttcaacagagggcactCggaagcccacttccctgacc	8	15	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:40901569C>T	ENST00000324001.7	-	7	2960	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	897					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGGCACTCGGAAGCCCAC	0.612																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2689-2691)cGa>cAa		periaxin							47	56	53					19																	40901569		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901569C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2690G>A	19.37:g.40901569C>T	ENSP00000326018:p.Arg897Gln					PRX_ENST00000291825.7_3'UTR	p.R897Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2960	-			897					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2690G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931525	0.34096	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	5.3	4.21	0.49690	.	0.354983	0.20353	N	0.094003	T	0.00724	0.0024	N	0.17082	0.46	0.37414	D	0.913344	B	0.33494	0.414	B	0.21360	0.034	T	0.64554	-0.6380	10	0.29301	T	0.29	-8.6739	4.1775	0.10358	0.0:0.6832:0.0:0.3168	.	897	Q9BXM0	PRAX_HUMAN	Q	897	ENSP00000326018:R897Q	ENSP00000326018:R897Q	R	-	2	0	PRX	45593409	0.000000	0.05858	0.928000	0.36995	0.979000	0.70002	0.904000	0.28491	2.496000	0.84212	0.650000	0.86243	CGA		0.612	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		98	295	0	0	0	1	0	98	295					T	40901569	C	T	40901569	3	4	56	1	0	0	0	0	1	0	0	0	12689	884	31	1	1699	1	PRX	19	40901569	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	20173399	40901569	18227414	109	6901											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522861	46522861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcacccgtgaagttcCagccacggccctcgtatacg	12	14	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:46522861C>G	ENST00000008938.4	-	2	375	c.332G>C	c.(331-333)tGg>tCg	p.W111S	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	111					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGTGAAGTTCCAGCCACGGCC	0.582																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(331-333)tGg>tCg		peptidoglycan recognition protein 1							67	58	61					19																	46522861		2203	4300	6503	SO:0001583	missense	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522861C>G	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.332G>C	19.37:g.46522861C>G	ENSP00000008938:p.Trp111Ser					CCDC61_ENST00000601763.1_Intron	p.W111S	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	375	-		all_neural(266;0.113)|Ovarian(192;0.127)	111					Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	c.332G>C	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139492	0.37728	.	.	ENSG00000008438	ENST00000008938	T	0.49720	0.77	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000027	T	0.74921	0.3780	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81551	-0.0881	10	0.87932	D	0	-27.3543	13.8728	0.63629	0.0:1.0:0.0:0.0	.	111	O75594	PGRP1_HUMAN	S	111	ENSP00000008938:W111S	ENSP00000008938:W111S	W	-	2	0	PGLYRP1	51214701	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	3.970000	0.56824	2.335000	0.79485	0.650000	0.86243	TGG		0.582	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		5	180	0	0	0	1	0	5	180					G	46522861	C	G	46522861	3	3	56	1	0	0	0	0	1	0	0	0	11835	595	21	5	266	5	PGLYRP1	19	46522861	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	5621292	46522861	12606122	110	6902											
TBC1D17	79735	broad.mit.edu	37	chr19	50385330	50385331	+	Frame_Shift_Ins	INS	-	-	C													tcccgcctctaccttgtcttINScccccacgactcctctgctc							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:50385330_50385331insC	ENST00000221543.5	+	6	859_860	c.560_561insC	c.(559-564)ttccccfs	p.FP187fs	TBC1D17_ENST00000535102.2_Frame_Shift_Ins_p.FP154fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	187					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TACCTTGTCTTCCCCCACGACT	0.629																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(559-561)tccfs		TBC1 domain family, member 17																																				SO:0001589	frameshift_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50385330_50385331insC	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.565dupC	19.37:g.50385335_50385335dupC	ENSP00000221543:p.Phe187fs					TBC1D17_ENST00000535102.2_Frame_Shift_Ins_p.S154fs	p.S187fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	6	859_860	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	187					B4DT12|B9A6L8|F5H1W7	Frame_Shift_Ins	INS	ENST00000221543.5	37	c.560_561insC	CCDS12785.1																																																																																				0.629	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		8	1874						8	1874	---	---	---	---	C	50385331	-	C	50385330	7	5	56	1	0	1	1	0	0	0	0	0	15658	1783	62	0	582	0	TBC1D17	19	50385330	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08	3862469	50385330	8743653	111	6903											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	778	0	0	0	1	0	9	778					A	53644386	T	A	53644386	2	1	56	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-FB-AAQ6-01A-11D-A40W-08	3259056	53644386	5484597	112	6904											
BTBD3	22903	broad.mit.edu	37	chr20	11899817	11899817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggactcaacggttgccagGacacaaagtaagcaacagct	11	10	1	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:11899817G>A	ENST00000405977.1	+	3	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|RP4-742J24.2_ENST00000439529.1_RNA	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	137	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGGTTGCCAGGACACAAAGTA	0.473																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(409-411)gGa>gAa		BTB (POZ) domain containing 3							104	94	97					20																	11899817		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899817G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.410G>A	20.37:g.11899817G>A	ENSP00000384545:p.Gly137Glu					BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E	p.G137E			Q9Y2F9	BTBD3_HUMAN			3	1035	+			137			BTB.		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.410G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482599	0.63962	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.72894	2.215	0.80722	D	1	P	0.41188	0.741	P	0.48141	0.568	T	0.09684	-1.0663	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	137	Q9Y2F9	BTBD3_HUMAN	E	76;76;137;76;137;26;26	ENSP00000254977:G76E;ENSP00000381971:G76E;ENSP00000384545:G137E;ENSP00000397809:G76E;ENSP00000367471:G137E;ENSP00000408817:G26E;ENSP00000404582:G26E	ENSP00000254977:G76E	G	+	2	0	BTBD3	11847817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.826000	0.97356	0.655000	0.94253	GGA		0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			35	104	0	0	0	1	0	35	104					A	11899817	G	A	11899817	3	1	56	1	0	0	0	0	1	0	0	0	1548	1174	41	2	416	2	BTBD3	20	11899817	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		11899817	51125703	113	6905											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	816						7	816	---	---	---	---	-	24524185	GGA	-	24524183	7	5	56	1	0	1	0	1	0	0	0	0	16271	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-FB-AAQ6-01A-11D-A40W-08	12624366	24524183	38501337	114	6906											
TMEM90B	79953	broad.mit.edu	37	chr20	24646110	24646110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtggccgtggccctcatCgcctacctctccaagaacaa	10	16	2	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24646110C>T	ENST00000376862.3	+	4	1380	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	249					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGCCCTCATCGCCTACCTCT	0.647																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(745-747)atC>atT		synapse differentiation inducing 1							101	100	100					20																	24646110		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24646110C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.747C>T	20.37:g.24646110C>T							p.I249I	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			4	1380	+			249					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.747C>T	CCDS13164.1																																																																																				0.647	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		210	321	0	0	0	1	0	210	321					T	24646110	C	T	24646110	2	4	56	1	0	0	0	0	0	0	0	1	16271	874	31	1		1	TMEM90B	20	24646110	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	121927	24646110	38379410	115	6907											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		6	511	0	0	0	1	0	6	511					A	34241168	G	A	34241168	3	1	56	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	9595058	34241168	28784352	116	6908											
ZMYND8	23613	broad.mit.edu	37	chr20	45875071	45875072	+	Frame_Shift_Ins	INS	-	-	T													ctgggtttgtaggcttgggcINSttttttttaacagcagatgg							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:45875071_45875072insT	ENST00000311275.7	-	14	2157_2158	c.1904_1905insA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.K583fs|ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.K662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.K572fs	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	635					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)			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)			TAGGCTTGGGCTTTTTTTTAAC	0.49																																						ENST00000311275.7																			0				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						c.(1903-1905)accfs		zinc finger, MYND-type containing 8																																				SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875071_45875072insT	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.1905dupA	20.37:g.45875079_45875079dupT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.T662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.T572fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.T583fs|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000468376.2_5'UTR	p.T635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157_2158	-			635					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	Frame_Shift_Ins	INS	ENST00000311275.7	37	c.1904_1905insA																																																																																					0.49	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		8	962						8	962	---	---	---	---	T	45875072	-	T	45875071	7	5	56	1	0	1	1	0	0	0	0	0	17764	796	28	0	1641	0	ZMYND8	20	45875071	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ6-01A-11D-A40W-08	11633903	45875071	17150449	117	6909											
TUBB1	81027	broad.mit.edu	37	chr20	57599154	57599155	+	Frame_Shift_Del	DEL	TC	TC	-													acgacacccacctatggggaTctcaaccacctagtgtcctt							TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57599154_57599155delTC	ENST00000217133.1	+	4	941_942	c.672_673delTC	c.(670-675)gatctcfs	p.L225fs		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	225					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTATGGGGATCTCAACCACCT	0.554																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(670-675)gatcfs		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)																																			SO:0001589	frameshift_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599154_57599155delTC	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.672_673delTC	20.37:g.57599156_57599157delTC	ENSP00000217133:p.Leu225fs						p.DL224fs	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	941_942	+	all_lung(29;0.00711)		224						Frame_Shift_Del	DEL	ENST00000217133.1	37	c.672_673delTC	CCDS13475.1																																																																																				0.554	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		12	621						12	621	---	---	---	---	-	57599155	TC	-	57599154	7	5	56	1	0	1	0	1	0	0	0	0	16807	1432	50	0	686	0	TUBB1	20	57599154	Frame_Shift_Del	DEL	TC	TCGA-FB-AAQ6-01A-11D-A40W-08	11724083	57599154	5426366	118	6910											
EDN3	1908	broad.mit.edu	37	chr20	57899466	57899466	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggcagtggactcgccctCgctccatctacctgcccccg	9	21	1	0	rs370508486		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57899466C>T	ENST00000337938.2	+	5	1055	c.669C>T	c.(667-669)ctC>ctT	p.L223L	EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	223					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)			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)					GACTCGCCCTCGCTCCATCTA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15503	0.0		0.001	False		,,,				2504	0.0					ENST00000337938.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(667-669)ctC>ctT		endothelin 3		C	,,,	0,4406		0,0,2203	96	97	97		669,,627,669	-0.7	0	20		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	223/239,,209/225,223/239	57899466	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:57899466C>T	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.669C>T	20.37:g.57899466C>T						EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000311585.7_3'UTR	p.L223L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN			5	1055	+	all_lung(29;0.0115)		223					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	c.669C>T	CCDS13477.1																																																																																				0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		8	692	0	0	0	1	0	8	692					T	57899466	C	T	57899466	2	4	56	1	0	0	0	0	0	0	0	1	4934	871	31	1		1	EDN3	20	57899466	Silent	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	300312	57899466	5126054	119	6911											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253686	32253686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcttgacagtggtccAggagccaagagccagtctgg	14	10	2	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:32253686A>G	ENST00000332378.4	-	1	188	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAGTGGTCCAGGAGCCAAGA	0.567																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(157-159)cTg>cCg		keratin associated protein 11-1							69	65	66					21																	32253686		2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253686A>G	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.158T>C	21.37:g.32253686A>G	ENSP00000330720:p.Leu53Pro						p.L53P	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	188	-			53					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.158T>C	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095059	0.56075	.	.	ENSG00000182591	ENST00000332378	T	0.03689	3.84	5.4	5.4	0.78164	.	0.167269	0.38272	N	0.001753	T	0.15305	0.0369	M	0.84948	2.725	0.58432	D	0.999998	D	0.61080	0.989	D	0.63113	0.911	T	0.00817	-1.1554	10	0.35671	T	0.21	-7.1524	8.316	0.32100	0.9117:0.0:0.0883:0.0	.	53	Q8IUC1	KR111_HUMAN	P	53	ENSP00000330720:L53P	ENSP00000330720:L53P	L	-	2	0	KRTAP11-1	31175557	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.106000	0.57804	2.197000	0.70478	0.529000	0.55759	CTG		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			48	182	0	0	0	1	0	48	182					G	32253686	A	G	32253686	3	3	56	1	0	0	0	0	1	0	0	0	8547	188	7	4	337	4	KRTAP11-1	21	32253686	Missense_Mutation	SNP	A	TCGA-FB-AAQ6-01A-11D-A40W-08		32253686	15876209	120	6912											
CRYZL1	9946	broad.mit.edu	37	chr21	34969588	34969588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatggtttctgatagtacctGaaggttttcttctgttgtta	9	5	3	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:34969588G>A	ENST00000381554.3	-	10	881	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.Q290*|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	266					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GATAGTACCTGAAGGTTTTCT	0.373																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(868-870)Cag>Tag		crystallin, zeta (quinone reductase)-like 1							200	186	191					21																	34969588		2203	4300	6503	SO:0001587	stop_gained	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34969588G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"quinone reductase-like 1"	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.796C>T	21.37:g.34969588G>A	ENSP00000370966:p.Gln266*					CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*	p.Q290*			O95825	QORL1_HUMAN			11	1007	-			266					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Nonsense_Mutation	SNP	ENST00000381554.3	37	c.868C>T	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674981|4.674981	0.88445|0.88445	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534|ENST00000441940;ENST00000440526	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74854	.|0.3771	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73461	.|-0.3975	.|4	0.42905|.	T|.	0.14|.	-16.5157|-16.5157	18.807|18.807	0.92041|0.92041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	266;251;266;290|41;209	.|.	ENSP00000290244:Q251X|.	Q|S	-|-	1|2	0|0	CRYZL1|CRYZL1	33891458|33891458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.661000|7.661000	0.83786|0.83786	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.373	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		120	253	0	0	0	1	0	120	253					A	34969588	G	A	34969588	4	1	56	1	0	0	0	0	0	1	0	0	3932	1299	45	2	269	2	CRYZL1	21	34969588	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	2715902	34969588	13160307	121	6913											
DSCAM	1826	broad.mit.edu	37	chr21	41741051	41741051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaaagtctggcgctgttGctctgcctcgtctctccggt	10	13	3	0			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:41741051G>T	ENST00000400454.1	-	4	1107	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	210	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCGCTGTTGCTCTGCCTCG	0.438																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(628-630)agC>agA		Down syndrome cell adhesion molecule							93	94	94					21																	41741051		1949	4142	6091	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741051G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.630C>A	21.37:g.41741051G>T	ENSP00000383303:p.Ser210Arg						p.S210R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1107	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	210			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.630C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137474	0.77775	.	.	ENSG00000171587	ENST00000400454	T	0.19394	2.15	6.07	-3.03	0.05429	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.83603	2.65	0.41002	D	0.98493	D	0.76494	0.999	D	0.83275	0.996	T	0.39542	-0.9609	10	0.66056	D	0.02	.	12.8167	0.57669	0.6272:0.0:0.3728:0.0	.	210	O60469	DSCAM_HUMAN	R	210	ENSP00000383303:S210R	ENSP00000383303:S210R	S	-	3	2	DSCAM	40662921	1.000000	0.71417	0.853000	0.33588	0.951000	0.60555	0.640000	0.24705	-1.031000	0.03308	0.655000	0.94253	AGC		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	326	1	0	3.86212e-05	1	3.92948e-05	9	326					T	41741051	G	T	41741051	3	4	56	1	0	0	0	0	1	0	0	0	4784	1310	46	3	5528	3	DSCAM	21	41741051	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	6771463	41741051	6388844	122	6914											
TRPM2	7226	broad.mit.edu	37	chr21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttccctgagtggctgaCggtcctcctactctgcctct	10	16	2	2	rs138586774	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:45833885C>T	ENST00000397928.1	+	20	3519	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1025					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGTGGCTGACGGTCCTCCTA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0031					ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3073-3075)aCg>aTg		transient receptor potential cation channel, subfamily M, member 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	217	218	218		3074	4.7	0.9	21	dbSNP_134	218	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1025/1504	45833885	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833885C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3074C>T	21.37:g.45833885C>T	ENSP00000381023:p.Thr1025Met					TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M	p.T1025M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			20	3519	+			1025					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3074C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347791	0.82022	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.88906	2.99	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.3961	18.1214	0.89572	0.0:1.0:0.0:0.0	.	1025;811;1025	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1025;1025;1005;1025	ENSP00000300482:T1025M;ENSP00000381023:T1025M;ENSP00000300481:T1005M;ENSP00000381026:T1025M	ENSP00000300481:T1005M	T	+	2	0	TRPM2	44658313	1.000000	0.71417	0.902000	0.35471	0.965000	0.64279	5.679000	0.68160	2.352000	0.79861	0.591000	0.81541	ACG		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		38	1242	0	0	0	1	0	38	1242					T	45833885	C	T	45833885	3	4	56	1	0	0	0	0	1	0	0	0	16639	536	19	1	3152	1	TRPM2	21	45833885	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	4092834	45833885	2296010	123	6915											
CHEK2	11200	broad.mit.edu	37	chr22	29130542	29130542	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggagctcagtgtcccagaGctggagtgagaggactggct	16	8	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:29130542G>C	ENST00000405598.1	-	3	359	c.168C>G	c.(166-168)agC>agG	p.S56R	CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382580.2_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R			O96017	CHK2_HUMAN	checkpoint kinase 2	56					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTGTCCCAGAGCTGGAGTGAG	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(166-168)agC>agG	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							127	119	122					22																	29130542		2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130542G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.168C>G	22.37:g.29130542G>C	ENSP00000386087:p.Ser56Arg					CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S56R|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R	p.S56R	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			2	243	-			56					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.168C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791600	0.70452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.95103	0.58;-0.25;-0.67;-3.61;-0.38;-0.38;-0.38;2.13;-0.25;0.58;0.03;2.13;-2.79	5.42	2.08	0.27032	.	0.125544	0.85682	D	0.000000	D	0.95446	0.8521	L	0.56769	1.78	0.41295	D	0.987004	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.85130	0.997;0.996;0.991;0.996;0.991;0.996	D	0.93676	0.6994	10	0.41790	T	0.15	-2.6501	9.8378	0.40980	0.2972:0.0:0.7028:0.0	.	56;56;56;56;56;56	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	R	56;56;56;56;56;56;56;56;56;56;56;56;56;66	ENSP00000329012:S56R;ENSP00000372021:S56R;ENSP00000372006:S56R;ENSP00000372007:S56R;ENSP00000329178:S56R;ENSP00000385747:S56R;ENSP00000386087:S56R;ENSP00000372023:S56R;ENSP00000384919:S56R;ENSP00000384835:S56R;ENSP00000397478:S56R;ENSP00000408065:S56R;ENSP00000381099:S66R	ENSP00000329178:S56R	S	-	3	2	CHEK2	27460542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.539000	0.23175	0.749000	0.32854	0.655000	0.94253	AGC		0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		108	295	0	0	0	1	0	108	295					C	29130542	G	C	29130542	3	2	56	1	0	0	0	0	1	0	0	0	3344	962	34	5	1652	5	CHEK2	22	29130542	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		29130542	22174024	124	6916											
NCF4	4689	broad.mit.edu	37	chr22	37273798	37273798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcccctcccagaagcGcctcttcccctggaagctgc	9	19	1	1	rs371008750		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:37273798G>A	ENST00000248899.6	+	10	1137	c.953G>A	c.(952-954)cGc>cAc	p.R318H	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	318	OPR.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TCCCAGAAGCGCCTCTTCCCC	0.617																																						ENST00000248899.6																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(952-954)cGc>cAc		neutrophil cytosolic factor 4, 40kDa		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51	42	45		,953	0.9	1	22		45	0,8600		0,0,4300	no	utr-3,missense	NCF4	NM_013416.3,NM_000631.4	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,318/340	37273798	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37273798G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.953G>A	22.37:g.37273798G>A	ENSP00000248899:p.Arg318His					NCF4_ENST00000397147.4_3'UTR	p.R318H	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN			10	1137	+			318					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.953G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067255	0.36470	2.27E-4	0.0	ENSG00000100365	ENST00000248899	T	0.23552	1.9	5.31	0.851	0.18989	Phox/Bem1p (2);	.	.	.	.	T	0.13157	0.0319	N	0.16233	0.39	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.10245	-1.0638	9	0.30854	T	0.27	.	6.9148	0.24354	0.4921:0.0:0.5079:0.0	.	318	Q15080	NCF4_HUMAN	H	318	ENSP00000248899:R318H	ENSP00000248899:R318H	R	+	2	0	NCF4	35603744	0.735000	0.28153	0.982000	0.44146	0.789000	0.44602	0.840000	0.27600	0.240000	0.21263	0.557000	0.71058	CGC		0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		41	85	0	0	0	1	0	41	85					A	37273798	G	A	37273798	3	1	56	1	0	0	0	0	1	0	0	0	10260	1087	38	1	1232	1	NCF4	22	37273798	Missense_Mutation	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08	8143256	37273798	14030768	125	6917											
EP300	2033	broad.mit.edu	37	chr22	41573306	41573306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accaactggccaacagccaaCcaccccgcagacgccccagc	7	21	0	1			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:41573306C>G	ENST00000263253.7	+	31	6810	c.5591C>G	c.(5590-5592)aCc>aGc	p.T1864S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1864					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACAGCCAACCACCCCGCAG	0.642			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5590-5592)aCc>aGc		E1A binding protein p300							95	93	94					22																	41573306		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573306C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5591C>G	22.37:g.41573306C>G	ENSP00000263253:p.Thr1864Ser					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.T1864S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6810	+			1864					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5591C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	4.675	0.125490	0.08931	.	.	ENSG00000100393	ENST00000263253	D	0.82081	-1.57	5.47	4.42	0.53409	.	0.509983	0.15738	N	0.247047	T	0.64283	0.2584	N	0.04508	-0.205	0.27890	N	0.939351	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.05721	T	0.95	-0.4911	16.0157	0.80439	0.0:0.8652:0.1348:0.0	.	1864	Q09472	EP300_HUMAN	S	1864	ENSP00000263253:T1864S	ENSP00000263253:T1864S	T	+	2	0	EP300	39903252	0.042000	0.20092	0.813000	0.32504	0.206000	0.24218	3.270000	0.51600	1.251000	0.43983	0.561000	0.74099	ACC		0.642	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		74	215	0	0	0	1	0	74	215					G	41573306	C	G	41573306	3	3	56	1	0	0	0	0	1	0	0	0	5166	507	18	5	5713	5	EP300	22	41573306	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	4299508	41573306	9731260	126	6918											
MSL3	10943	broad.mit.edu	37	chrX	11783721	11783721	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagaagcattgcagtctctGaggcggtccacgcgccacag	12	14	1	2			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:11783721G>C	ENST00000312196.4	+	9	1149	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	MSL3_ENST00000361672.2_Silent_p.L199L|MSL3_ENST00000380693.3_Silent_p.L182L|MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000337339.2_Silent_p.L348L	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	348	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGCAGTCTCTGAGGCGGTCCA	0.617																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1042-1044)ctG>ctC		male-specific lethal 3 homolog (Drosophila)							104	103	103					X																	11783721		2203	4300	6503	SO:0001819	synonymous_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783721G>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1044G>C	X.37:g.11783721G>C						MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000380693.3_Silent_p.L182L|MSL3_ENST00000312196.4_Silent_p.L348L|MSL3_ENST00000361672.2_Silent_p.L199L	p.L348L	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1071	+			348					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	ENST00000312196.4	37	c.1044G>C	CCDS14147.1																																																																																				0.617	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		4	352	0	0	0	1	0	4	352					C	11783721	G	C	11783721	2	2	56	1	0	0	0	0	0	0	0	1	9920	1277	45	5		5	MSL3	23	11783721	Silent	SNP	G	TCGA-FB-AAQ6-01A-11D-A40W-08		11783721	143486839	127	6919											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			13	21						13	21	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	56	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-FB-AAQ6-01A-11D-A40W-08	39455575	51239296	104031264	128	6920											
AIFM1	9131	broad.mit.edu	37	chrX	129265770	129265770	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaacatcggggcccaaatCactcctaagaagagagaaga	10	11	1	4			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:129265770C>A	ENST00000287295.3	-	14	1683	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	485					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GGGCCCAAATCACTCCTAAGA	0.443																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1453-1455)Gat>Tat		apoptosis-inducing factor, mitochondrion-associated, 1							113	101	105					X																	129265770		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129265770C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1453G>T	X.37:g.129265770C>A	ENSP00000287295:p.Asp485Tyr					AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y	p.D485Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			14	1683	-			485					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1453G>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819926	0.90873	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85258	0.59;0.57;-1.96;0.6;-0.96	5.8	5.8	0.92144	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.92555	3.32	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	0.95449	0.8532	10	0.87932	D	0	-18.3899	19.0045	0.92844	0.0:1.0:0.0:0.0	.	198;481;485	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	Y	146;198;481;133;485	ENSP00000431222:D146Y;ENSP00000316320:D198Y;ENSP00000315122:D481Y;ENSP00000405879:D133Y;ENSP00000287295:D485Y	ENSP00000287295:D485Y	D	-	1	0	AIFM1	129093451	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.487000	0.81328	2.436000	0.82500	0.600000	0.82982	GAT		0.443	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			186	121	1	0	2.45686e-96	1	2.7561e-96	186	121					A	129265770	C	A	129265770	3	1	56	1	0	0	0	0	1	0	0	0	426	826	29	3	400	3	AIFM1	23	129265770	Missense_Mutation	SNP	C	TCGA-FB-AAQ6-01A-11D-A40W-08	78026474	129265770	26004790	129	6921											
CLCNKA	1187	broad.mit.edu	37	chr1	16356526	16356526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgagggcattgtgactgGaggggttaccaatcccatca	12	11	1	2	rs71587743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16356526G>A	ENST00000331433.4	+	14	1383	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	455					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATTGTGACTGGAGGGGTTACC	0.662																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1363-1365)gGa>gAa		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						55	50	52					1																	16356526		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16356526G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1364G>A	1.37:g.16356526G>A	ENSP00000332771:p.Gly455Glu					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G455E	p.G455E			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1492	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	455					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1364G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045677	0.19748	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.85702	-1.95;-1.95;-2.02;-1.97	3.3	2.37	0.29283	Chloride channel, core (2);	0.313692	0.31177	N	0.008103	T	0.76905	0.4053	L	0.28694	0.88	0.48975	D	0.999735	P;B;B;B	0.38223	0.623;0.016;0.156;0.156	P;B;B;B	0.44647	0.456;0.05;0.158;0.158	T	0.74466	-0.3656	10	0.52906	T	0.07	.	3.1862	0.06602	0.238:0.2417:0.5202:0.0	.	191;412;455;455	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	E	455;455;412;455	ENSP00000364844:G455E;ENSP00000410353:G455E;ENSP00000414445:G412E;ENSP00000332771:G455E	ENSP00000332771:G455E	G	+	2	0	CLCNKA	16229113	1.000000	0.71417	0.995000	0.50966	0.108000	0.19459	4.011000	0.57124	1.821000	0.53095	0.313000	0.20887	GGA		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			15	298	0	0	0	1	0	15	298					A	16356526	G	A	16356526	3	1	57	1	0	0	0	0	1	0	0	0	3478	1174	41	2	1414	2	CLCNKA	1	16356526	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		16356526	232894095	1	6922											
CSMD2	114784	broad.mit.edu	37	chr1	34285425	34285425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgcaggtgaactggaCgctggatcctaacctgggag	14	10	0	1	rs369228743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34285425C>T	ENST00000373381.4	-	9	1389	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	365	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				GTGAACTGGACGCTGGATCCT	0.592																																						ENST00000373381.4																			0				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						c.(1213-1215)Gtc>Atc		CUB and Sushi multiple domains 2		C	ILE/VAL	0,4406		0,0,2203	94	86	89		1093	4.8	1	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	365/3488	34285425	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34285425C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1213G>A	1.37:g.34285425C>T	ENSP00000362479:p.Val405Ile						p.V405I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			9	1389	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	365			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1213G>A		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738794	0.49045	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.68331	-0.32	5.81	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.146208	0.46758	D	0.000267	T	0.51618	0.1685	L	0.42008	1.315	0.80722	D	1	B;B	0.24963	0.024;0.115	B;B	0.27500	0.05;0.08	T	0.46665	-0.9175	10	0.18276	T	0.48	.	4.3392	0.11101	0.0:0.7207:0.0:0.2793	.	365;405	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	405	ENSP00000362479:V405I	ENSP00000241312:V365I	V	-	1	0	CSMD2	34058012	0.808000	0.29022	1.000000	0.80357	0.990000	0.78478	1.213000	0.32407	2.746000	0.94184	0.655000	0.94253	GTC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		13	246	0	0	0	1	0	13	246					T	34285425	C	T	34285425	3	4	57	1	0	0	0	0	1	0	0	0	3956	536	19	1	9614	1	CSMD2	1	34285425	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	17928899	34285425	214965196	2	6923											
HMGB4	127540	broad.mit.edu	37	chr1	34329991	34329991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaagccctggccaaactcGacaaagcccgataccaggaa	9	13	0	1	rs369597433		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34329991G>A	ENST00000522796.1	+	4	2104	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N			Q8WW32	HMGB4_HUMAN	high mobility group box 4	67						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCAAACTCGACAAAGCCCG	0.458																																						ENST00000522796.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(199-201)Gac>Aac		high mobility group box 4		G	,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	122	139	133		,199	4.7	0.9	1		133	0,8600		0,0,4300	no	intron,missense	CSMD2,HMGB4	NM_052896.3,NM_145205.4	,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,67/187	34329991	1,13005	2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34329991G>A		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.199G>A	1.37:g.34329991G>A	ENSP00000430919:p.Asp67Asn					CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N|HMGB4_ENST00000425537.1_3'UTR	p.D67N			B2R4X7	B2R4X7_HUMAN			4	2104	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	67					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.199G>A	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783901	0.90282	2.27E-4	0.0	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.15603	2.41;2.41	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.85462	2.755	0.48288	D	0.999629	D	0.56746	0.977	P	0.46253	0.509	T	0.19289	-1.0310	10	0.62326	D	0.03	.	10.2395	0.43303	0.0883:0.0:0.9117:0.0	.	67	B2R4X7	.	N	67	ENSP00000429214:D67N;ENSP00000430919:D67N	ENSP00000429214:D67N	D	+	1	0	HMGB4	34102578	1.000000	0.71417	0.899000	0.35326	0.940000	0.58332	3.979000	0.56888	1.602000	0.50124	0.609000	0.83330	GAC		0.458	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		62	584	0	0	0	1	0	62	584					A	34329991	G	A	34329991	3	1	57	1	0	0	0	0	1	0	0	0	7258	1058	37	1	201	1	HMGB4	1	34329991	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	44566	34329991	214920630	3	6924											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031576	110031576	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaggggagtctcccaaggaGaagagcccagggcgcaagga	16	9	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110031576G>A	ENST00000369870.3	+	7	906	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	297	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCAAGGAGAAGAGCCCAG	0.652																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(889-891)gaG>gaA		ataxin 7-like 2							41	41	41					1																	110031576		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110031576G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.891G>A	1.37:g.110031576G>A							p.E297E	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	906	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	297			SCA7.			Silent	SNP	ENST00000369870.3	37	c.891G>A	CCDS30794.1																																																																																				0.652	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		12	268	0	0	0	1	0	12	268					A	110031576	G	A	110031576	2	1	57	1	0	0	0	0	0	0	0	1	1218	933	33	2		2	ATXN7L2	1	110031576	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	75701585	110031576	139219045	4	6925											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	862						7	862	---	---	---	---	T	110300580	-	T	110300579	7	5	57	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	269003	110300579	138950042	5	6926											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416603	204416603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatgtctttaagcttgCgctggtcttcttcccggagg	12	10	3	1	rs565159968	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204416603C>T	ENST00000367187.3	-	16	3006	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)			TTTAAGCTTGCGCTGGTCTTC	0.557													C|||	6	0.00119808	0.0	0.0	5008	,	,		15998	0.0		0.0	False		,,,				2504	0.0061					ENST00000367187.3																			0				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						c.(2449-2451)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							79	77	78					1																	204416603		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.chr1:204416603C>T	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.2450G>A	1.37:g.204416603C>T	ENSP00000356155:p.Arg817His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	p.R817H	NM_002646.3	NP_002637.3	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)		16	3006	-	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)		817					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2450G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072628	0.36566	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.63744	-0.06;-0.06	5.08	3.13	0.36017	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.52403	0.1732	L	0.47716	1.5	0.23210	N	0.998116	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.001	T	0.49322	-0.8952	10	0.48119	T	0.1	.	9.8335	0.40956	0.0:0.7533:0.0:0.2467	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	H	817	ENSP00000356155:R817H;ENSP00000400561:R817H	ENSP00000356155:R817H	R	-	2	0	PIK3C2B	202683226	0.992000	0.36948	0.749000	0.31150	0.778000	0.44026	1.609000	0.36858	1.232000	0.43678	0.462000	0.41574	CGC		0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		52	245	0	0	0	1	0	52	245					T	204416603	C	T	204416603	3	4	57	1	0	0	0	0	1	0	0	0	11952	768	27	1	2530	1	PIK3C2B	1	204416603	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	94116024	204416603	44834018	6	6927											
LRRN2	10446	broad.mit.edu	37	chr1	204589069	204589069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaccacgggcacagcggCagtggcaccagccacccaag	14	15	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204589069C>T	ENST00000367175.1	-	1	2264	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	18					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACAGCGGCAGTGGCACCA	0.647																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(52-54)Gcc>Acc		leucine rich repeat neuronal 2							18	21	20					1																	204589069		2199	4297	6496	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589069C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.52G>A	1.37:g.204589069C>T	ENSP00000356143:p.Ala18Thr					LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T	p.A18T			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2264	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		18					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.52G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735810	0.15574	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.28454	1.61;1.61;1.61	5.79	4.87	0.63330	.	0.170083	0.27846	N	0.017610	T	0.19886	0.0478	L	0.31420	0.93	0.29809	N	0.831823	B	0.12630	0.006	B	0.14578	0.011	T	0.19418	-1.0306	10	0.02654	T	1	.	13.2602	0.60101	0.0:0.9249:0.0:0.0751	.	18	O75325	LRRN2_HUMAN	T	18	ENSP00000356144:A18T;ENSP00000356145:A18T;ENSP00000356143:A18T	ENSP00000356143:A18T	A	-	1	0	LRRN2	202855692	0.360000	0.24964	0.273000	0.24645	0.971000	0.66376	1.376000	0.34306	1.431000	0.47355	0.650000	0.86243	GCC		0.647	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		9	98	0	0	0	1	0	9	98					T	204589069	C	T	204589069	3	4	57	1	0	0	0	0	1	0	0	0	9073	710	25	2	2093	2	LRRN2	1	204589069	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	172466	204589069	44661552	7	6928											
TTN	7273	broad.mit.edu	37	chr2	179576918	179576918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaacagacaccttaacCggctccaactgcttgacaaa	5	15	1	2	rs541105227		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179576918C>T	ENST00000591111.1	-	94	26912	c.26688G>A	c.(26686-26688)ccG>ccA	p.P8896P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P9213P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.P7969P			Q8WZ42	TITIN_HUMAN	titin	13042	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTTAACCGGCTCCAACT	0.443													c|||	1	0.000199681	0.0	0.0	5008	,	,		20062	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				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						c.(27637-27639)ccG>ccA		titin							66	65	65					2																	179576918		1906	4124	6030	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576918C>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.26688G>A	2.37:g.179576918C>T						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P8896P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P7969P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	p.P9213P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	27863	-			8896			Ig-like 75.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.27639G>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	328	0	0	0	1	0	15	328					T	179576918	C	T	179576918	2	4	57	1	0	0	0	0	0	0	0	1	16789	639	23	1		1	TTN	2	179576918	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		179576918	63622455	8	6929											
TTN	7273	broad.mit.edu	37	chr2	179643640	179643640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgtgggaatgtaagtcGgagctccaagtggtgcagca	15	7	0	0	rs144011561		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179643640G>A	ENST00000591111.1	-	24	4393	c.4169C>T	c.(4168-4170)cCg>cTg	p.P1390L	TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L|TTN_ENST00000589042.1_Missense_Mutation_p.P1390L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33590					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTAAGTCGGAGCTCCAAG	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20085	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(4168-4170)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	73	70	71		4031,4169,4169,4031,4031	5.9	1	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	98,98,98,98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1344/26927,1390/33424,1390/5605,1344/27052,1344/27119	179643640	2,13004	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179643640G>A	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.4169C>T	2.37:g.179643640G>A	ENSP00000465570:p.Pro1390Leu					TTN_ENST00000591111.1_Missense_Mutation_p.P1390L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L	p.P1390L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		24	4393	-			1390					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.4169C>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.301695	0.40694	2.27E-4	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63255	-0.03;0.06;0.06;0.05;0.2	5.91	5.91	0.95273	Ribonuclease H-like (1);	.	.	.	.	T	0.76227	0.3958	L	0.54323	1.7	0.43683	D	0.996121	D;D;D;D;D	0.89917	0.968;0.968;0.968;0.984;1.0	B;B;B;B;D	0.64687	0.265;0.265;0.265;0.401;0.928	T	0.76594	-0.2902	9	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1344;1344;1344;1390;1390	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1390;1344;1344;1344;1344;1390	ENSP00000343764:P1390L;ENSP00000434586:P1344L;ENSP00000340554:P1344L;ENSP00000352154:P1344L;ENSP00000354117:P1390L	ENSP00000340554:P1344L	P	-	2	0	TTN	179351885	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.805000	0.62561	2.813000	0.96785	0.655000	0.94253	CCG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	318	0	0	0	1	0	17	318					A	179643640	G	A	179643640	3	1	57	1	0	0	0	0	1	0	0	0	16789	1116	39	1	107175	1	TTN	2	179643640	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	66722	179643640	63555733	9	6930											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {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.R850C(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						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(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						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124	126	125					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>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.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	647	0	0	0	1	0	8	647					A	196825327	G	A	196825327	3	1	57	1	0	0	0	0	1	0	0	0	4622	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	17181687	196825327	46374046	10	6931											
CPS1	1373	broad.mit.edu	37	chr2	211532923	211532923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaacaggtggcttgctttgGtgaaggtattcatacagcct	11	7	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:211532923G>T	ENST00000233072.5	+	34	4212	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V	CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1339					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCTTGCTTTGGTGAAGGTATT	0.368																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4015-4017)gGt>gTt		carbamoyl-phosphate synthase 1, mitochondrial							71	67	68					2																	211532923		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211532923G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4016G>T	2.37:g.211532923G>T	ENSP00000233072:p.Gly1339Val					CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	p.G1339V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	34	4212	+			1339					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4016G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605102	0.87157	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.72835	-0.69;-0.69;-0.69	6.06	6.06	0.98353	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92954	0.6383	10	0.87932	D	0	-10.3162	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1349;1339	Q59HF8;P31327	.;CPSM_HUMAN	V	1345;1347;1339;888	ENSP00000402608:G1345V;ENSP00000233072:G1339V;ENSP00000406136:G888V	ENSP00000233072:G1339V	G	+	2	0	CPS1	211241168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.448000	0.97600	2.880000	0.98712	0.650000	0.86243	GGT		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			26	366	1	0	2.44723e-14	1	2.63369e-14	26	366					T	211532923	G	T	211532923	3	4	57	1	0	0	0	0	1	0	0	0	3832	1261	44	3	4172	3	CPS1	2	211532923	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	14707596	211532923	31666450	11	6932											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		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.G118D(26)		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)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	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						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	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.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	35	228	0	0	0	1	0	35	228					A	178917478	G	A	178917478	5	1	57	1	0	0	0	0	0	0	1	0	11955	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		178917478	19104952	12	6933											
LRRC33	375387	broad.mit.edu	37	chr3	196387199	196387199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcgggctcacgcggctgCgggtcctcaacgtcagctac	12	15	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:196387199C>T	ENST00000328557.4	+	3	888	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	229					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)											CACGCGGCTGCGGGTCCTCAA	0.647																																						ENST00000328557.4																			0											c.(685-687)Cgg>Tgg		negative regulator of reactive oxygen species							59	56	57					3																	196387199		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387199C>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.685C>T	3.37:g.196387199C>T	ENSP00000328625:p.Arg229Trp						p.R229W	NM_198565.1	NP_940967.1					3	888	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.685C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984479	0.35036	.	.	ENSG00000174004	ENST00000328557	T	0.01068	5.38	6.17	6.17	0.99709	.	0.705996	0.14458	N	0.318358	T	0.06234	0.0161	M	0.92507	3.315	0.80722	D	1	D	0.67145	0.996	P	0.47528	0.549	T	0.02226	-1.1192	10	0.66056	D	0.02	.	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	229	Q86YC3	LRC33_HUMAN	W	229	ENSP00000328625:R229W	ENSP00000328625:R229W	R	+	1	2	LRRC33	197871596	0.022000	0.18835	0.009000	0.14445	0.006000	0.05464	2.391000	0.44424	2.941000	0.99782	0.655000	0.94253	CGG		0.647	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		13	305	0	0	0	1	0	13	305					T	196387199	C	T	196387199	3	4	57	1	0	0	0	0	1	0	0	0	9026	759	27	1	691	1	LRRC33	3	196387199	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	17469721	196387199	1635231	13	6934											
WDR1	9948	broad.mit.edu	37	chr4	10080533	10080533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacacccccaattgccacCgtgtccccgccggggtgcac	9	20	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:10080533C>T	ENST00000499869.2	-	12	1570	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000382452.2_Silent_p.T459T|WDR1_ENST00000382451.2_Silent_p.T319T			O75083	WDR1_HUMAN	WD repeat domain 1	459					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAATTGCCACCGTGTCCCCGC	0.592																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1375-1377)acG>acA		WD repeat domain 1							78	95	90					4																	10080533		2010	4170	6180	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080533C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1377G>A	4.37:g.10080533C>T						WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000499869.2_Silent_p.T459T|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.T319T	p.T459T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1659	-			459					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1377G>A	CCDS54740.1																																																																																				0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			5	259	0	0	0	1	0	5	259					T	10080533	C	T	10080533	2	4	57	1	0	0	0	0	0	0	0	1	17326	639	23	1		1	WDR1	4	10080533	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		10080533	181073743	14	6935											
NPY2R	4887	broad.mit.edu	37	chr4	156135813	156135813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcattttcctacactcGcatttggagtaaattgaaga	6	7	1	2	rs201834148		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:156135813G>A	ENST00000329476.3	+	2	1211	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	241					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TCCTACACTCGCATTTGGAGT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22946	0.0		0.0	False		,,,				2504	0.0					ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(721-723)cGc>cAc		neuropeptide Y receptor Y2							97	99	98					4																	156135813		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135813G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.722G>A	4.37:g.156135813G>A	ENSP00000332591:p.Arg241His					NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1211	+	all_hematologic(180;0.24)	Renal(120;0.0854)	241					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.722G>A	CCDS3791.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.32	2.201932	0.38905	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.39056	1.1;1.1	5.74	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.168700	0.52532	D	0.000066	T	0.61677	0.2366	M	0.83953	2.67	0.38645	D	0.951695	D	0.64830	0.994	P	0.61328	0.887	T	0.68526	-0.5385	10	0.44086	T	0.13	.	12.5301	0.56109	0.1588:0.0:0.8412:0.0	.	241	P49146	NPY2R_HUMAN	H	241	ENSP00000332591:R241H;ENSP00000426366:R241H	ENSP00000332591:R241H	R	+	2	0	NPY2R	156355263	0.989000	0.36119	0.051000	0.19133	0.629000	0.37895	4.847000	0.62867	1.434000	0.47414	0.643000	0.83706	CGC		0.448	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		8	344	0	0	0	1	0	8	344					A	156135813	G	A	156135813	3	1	57	1	0	0	0	0	1	0	0	0	10651	1087	38	1	724	1	NPY2R	4	156135813	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	146055280	156135813	35018463	15	6936											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	370						8	370	---	---	---	---	-	186544622	GGT	-	186544620	7	5	57	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-FZ-5919-01A-11D-1609-08	30408807	186544620	4609656	16	6937											
RAD17	5884	broad.mit.edu	37	chr5	68669707	68669707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttctagagtgtagtggCgtctctactattactgccac	9	9	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:68669707C>T	ENST00000509734.1	+	4	771	c.93C>T	c.(91-93)ggC>ggT	p.G31G	RAD17_ENST00000361732.2_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000282891.6_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	31					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTGTAGTGGCGTCTCTACTA	0.363								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(91-93)ggC>ggT	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							88	86	87					5																	68669707		2203	4300	6503	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68669707C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.93C>T	5.37:g.68669707C>T						RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000361732.2_Silent_p.G20G	p.G31G			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	4	771	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	31					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.93C>T	CCDS4003.1																																																																																				0.363	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		47	324	0	0	0	1	0	47	324					T	68669707	C	T	68669707	2	4	57	1	0	0	0	0	0	0	0	1	13029	755	27	1		1	RAD17	5	68669707	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		68669707	112245553	17	6938											
GRM6	2916	broad.mit.edu	37	chr5	178413312	178413312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgggcggcacagaccGcggccccaggctcagccacc	14	19	1	1	rs61733863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:178413312G>A	ENST00000517717.1	-	9	1981	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	GRM6_ENST00000231188.5_Missense_Mutation_p.A648V|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	648					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A648V(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCACAGACCGCGGCCCCAGG	0.642													g|||	3	0.000599042	0.0015	0.0	5008	,	,		17344	0.001		0.0	False		,,,				2504	0.0					ENST00000231188.5																			1	Substitution - Missense(1)	p.A648V(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1942-1944)gCg>gTg		glutamate receptor, metabotropic 6		C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	38	38	38		1943	2.3	0	5	dbSNP_129	38	3,8595	3.0+/-9.4	0,3,4296	yes	missense	GRM6	NM_000843.3	64	0,7,6495	AA,AG,GG		0.0349,0.0908,0.0538	benign	648/878	178413312	7,12997	2203	4299	6502	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413312G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1943C>T	5.37:g.178413312G>A	ENSP00000430767:p.Ala648Val					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.A648V	p.A648V	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2121	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	648						Missense_Mutation	SNP	ENST00000517717.1	37	c.1943C>T	CCDS4442.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	0.005	-2.201130	0.00296	9.08E-4	3.49E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.88277	-2.36;-2.36	5.02	2.26	0.28386	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.78541	0.4299	N	0.13299	0.325	0.09310	N	1	P;B	0.42123	0.771;0.026	B;B	0.42555	0.391;0.025	T	0.65356	-0.6188	9	0.10377	T	0.69	.	9.5679	0.39409	0.1488:0.1203:0.7309:0.0	.	804;648	E7EX65;O15303	.;GRM6_HUMAN	V	804;648;648	ENSP00000231188:A648V;ENSP00000430767:A648V	ENSP00000231188:A648V	A	-	2	0	GRM6	178345918	0.083000	0.21467	0.000000	0.03702	0.004000	0.04260	1.437000	0.34991	0.016000	0.14998	-2.900000	0.00093	GCG		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	142	0	0	0	1	0	7	142					A	178413312	G	A	178413312	3	1	57	1	0	0	0	0	1	0	0	0	6831	1087	38	1	702	1	GRM6	5	178413312	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	109743605	178413312	2501948	18	6939											
ENPP5	59084	broad.mit.edu	37	chr6	46129388	46129388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagtgggtacaaatctgtgGagttcatggcttcttttgag	13	5	3	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:46129388G>T	ENST00000371383.2	-	5	1369	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATCTGTGGAGTTCATGGC	0.448																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1108-1110)tCc>tAc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							272	279	277					6																	46129388		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129388G>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1109C>A	6.37:g.46129388G>T	ENSP00000360436:p.Ser370Tyr					ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y	p.S370Y			Q9UJA9	ENPP5_HUMAN			5	1369	-			370						Missense_Mutation	SNP	ENST00000371383.2	37	c.1109C>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123031	0.77436	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75477	-0.94;-0.94	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.058148	0.64402	D	0.000001	T	0.78362	0.4271	M	0.84773	2.715	0.41991	D	0.990848	P	0.47545	0.897	P	0.49561	0.615	T	0.82637	-0.0359	10	0.72032	D	0.01	-14.2993	14.3827	0.66921	0.0:0.0:0.853:0.147	.	370	Q9UJA9	ENPP5_HUMAN	Y	370	ENSP00000360436:S370Y;ENSP00000230565:S370Y	ENSP00000230565:S370Y	S	-	2	0	ENPP5	46237347	0.305000	0.24481	1.000000	0.80357	0.998000	0.95712	1.583000	0.36579	2.656000	0.90262	0.655000	0.94253	TCC		0.448	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			42	1243	1	0	7.26314e-15	1	7.89168e-15	42	1243					T	46129388	G	T	46129388	3	4	57	1	0	0	0	0	1	0	0	0	5151	1174	41	3	328	3	ENPP5	6	46129388	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		46129388	124985679	19	6940											
RNGTT	8732	broad.mit.edu	37	chr6	89388128	89388128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atacaggaggccaacattctGaggaagtaacctacaaagaa	9	8	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:89388128G>C	ENST00000369485.4	-	14	1636	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E|RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	484	GTase.			Q -> P (in Ref. 1; AAB91559). {ECO:0000305}.	7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCAACATTCTGAGGAAGTAAC	0.294																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1450-1452)Cag>Gag		RNA guanylyltransferase and 5'-phosphatase							71	67	68					6																	89388128		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89388128G>C	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1450C>G	6.37:g.89388128G>C	ENSP00000358497:p.Gln484Glu					RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E|RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E	p.Q484E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	14	1636	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	484	Q -> P (in Ref. 1; AAB91559).		GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.1450C>G	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	4.666	0.123758	0.08931	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.27557	2.1;2.13;2.12;1.66	5.42	5.42	0.78866	Nucleic acid-binding, OB-fold-like (1);mRNA capping enzyme, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.157913	0.64402	D	0.000015	T	0.06690	0.0171	N	0.12182	0.205	0.49051	D	0.999749	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.10823	-1.0613	10	0.05436	T	0.98	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	401;484;461;484	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	E	484;461;401;455;484	ENSP00000358497:Q484E;ENSP00000265607:Q461E;ENSP00000442609:Q401E;ENSP00000358487:Q484E	ENSP00000265607:Q461E	Q	-	1	0	RNGTT	89444847	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.265000	0.58865	2.687000	0.91594	0.655000	0.94253	CAG		0.294	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			6	164	0	0	0	1	0	6	164					C	89388128	G	C	89388128	3	2	57	1	0	0	0	0	1	0	0	0	13553	1299	45	5	355	5	RNGTT	6	89388128	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	43258740	89388128	81726939	20	6941											
SHPRH	257218	broad.mit.edu	37	chr6	146207836	146207836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgtagttcattcaagCtcttcagtttctttggtaaa	7	7	6	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:146207836C>T	ENST00000367505.2	-	30	5307	c.5043G>A	c.(5041-5043)gaG>gaA	p.E1681E	SHPRH_ENST00000367503.3_Silent_p.E1685E|RP11-545I5.3_ENST00000606388.1_RNA|SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1681					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCATTCAAGCTCTTCAGTTT	0.398																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(5053-5055)gaG>gaA		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							81	79	80					6																	146207836		1866	4113	5979	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146207836C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.5043G>A	6.37:g.146207836C>T						SHPRH_ENST00000367505.2_Silent_p.E1681E|SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron	p.E1685E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	30	5453	-		Ovarian(120;0.0365)	1681					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.5055G>A	CCDS43513.2																																																																																				0.398	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	215	0	0	0	1	0	6	215					T	146207836	C	T	146207836	2	4	57	1	0	0	0	0	0	0	0	1	14341	796	28	2		2	SHPRH	6	146207836	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	56819708	146207836	24907231	21	6942											
SYNE1	23345	broad.mit.edu	37	chr6	152469332	152469332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagtccacactagccGgggtgtctcgtcctgaccgc	14	13	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:152469332G>A	ENST00000367255.5	-	137	25425	c.24824C>T	c.(24823-24825)cCg>cTg	p.P8275L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8275					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACACTAGCCGGGGTGTCTCG	0.617										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24823-24825)cCg>cTg		spectrin repeat containing, nuclear envelope 1							61	60	60					6																	152469332		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469332G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24824C>T	6.37:g.152469332G>A	ENSP00000356224:p.Pro8275Leu	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L|SYNE1_ENST00000347037.5_5'UTR	p.P8275L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25425	-		Ovarian(120;0.0955)	8275					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24824C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903203	0.92035	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	D;T;T;D;D;D;D;T;T;T	0.90900	-2.65;3.26;-1.25;-2.74;-2.75;-2.6;-2.05;-0.35;-1.28;2.16	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000044	D	0.95900	0.8665	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96316	0.9232	10	0.72032	D	0.01	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	8275;8275;8204;8204;477	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	L	8275;430;921;8204;8275;8204;7887;2799;437;432;1197;430	ENSP00000356224:P8275L;ENSP00000441052:P430L;ENSP00000356226:P921L;ENSP00000396024:P8204L;ENSP00000265368:P8275L;ENSP00000390975:P8204L;ENSP00000341887:P7887L;ENSP00000349276:P2799L;ENSP00000356220:P1197L;ENSP00000346701:P430L	ENSP00000265368:P8275L	P	-	2	0	SYNE1	152511025	1.000000	0.71417	0.954000	0.39281	0.723000	0.41478	7.621000	0.83083	2.471000	0.83476	0.563000	0.77884	CCG		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	253	0	0	0	1	0	6	253					A	152469332	G	A	152469332	3	1	57	1	0	0	0	0	1	0	0	0	15497	1116	39	1	1682	1	SYNE1	6	152469332	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	6261496	152469332	18645735	22	6943											
SDK1	221935	broad.mit.edu	37	chr7	4153009	4153009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggccccacccgacGtggctccaaccagcgtcacg	10	20	1	0	rs149058628		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:4153009G>A	ENST00000404826.2	+	24	3662	c.3523G>A	c.(3523-3525)Gtg>Atg	p.V1175M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1175					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACCCGACGTGGCTCCAAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3523-3525)Gtg>Atg		sidekick cell adhesion molecule 1		G	MET/VAL	0,4406		0,0,2203	113	120	118		3523	3.8	1	7	dbSNP_134	118	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SDK1	NM_152744.3	21	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign	1175/2214	4153009	8,12998	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153009G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3523G>A	7.37:g.4153009G>A	ENSP00000385899:p.Val1175Met					SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3662	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1175			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3523G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313323	0.23908	0.0	9.3E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61742	0.08;0.1	4.92	3.78	0.43462	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.219434	0.29152	N	0.012995	T	0.51805	0.1696	N	0.13352	0.335	0.33461	D	0.584885	B;D	0.67145	0.378;0.996	B;P	0.61397	0.064;0.888	T	0.58329	-0.7655	10	0.33141	T	0.24	.	8.9736	0.35921	0.2034:0.0:0.7966:0.0	.	1175;1175	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1175	ENSP00000385899:V1175M;ENSP00000374182:V1175M	ENSP00000374182:V1175M	V	+	1	0	SDK1	4119535	0.972000	0.33761	0.970000	0.41538	0.435000	0.31806	1.801000	0.38843	2.437000	0.82529	0.655000	0.94253	GTG		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		291	959	0	0	0	1	0	291	959					A	4153009	G	A	4153009	3	1	57	1	0	0	0	0	1	0	0	0	14018	1145	40	1	3617	1	SDK1	7	4153009	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		4153009	154985654	23	6944											
OCM	654231	broad.mit.edu	37	chr7	5923595	5923595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttgatggctgcggCggataatgatggagatggga	16	6	0	3			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:5923595C>T	ENST00000242104.5	+	3	361	c.269C>T	c.(268-270)gCg>gTg	p.A90V	OCM_ENST00000416608.1_Missense_Mutation_p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGGCTGCGGCGGATAATGAT	0.498																																						ENST00000242104.5																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(268-270)gCg>gTg		oncomodulin							43	39	40					7																	5923595		2202	4280	6482	SO:0001583	missense	654231						calcium ion binding	g.chr7:5923595C>T	BC069468	CCDS43548.1	7p22.1	2013-01-10						"EF-hand domain containing"	8105	protein-coding gene	gene with protein product	"oncomodulin 1"	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.269C>T	7.37:g.5923595C>T	ENSP00000242104:p.Ala90Val					OCM_ENST00000416608.1_Missense_Mutation_p.A90V	p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)	3	361	+		Ovarian(82;0.0694)	90			EF-hand 2.		B9EJH7|P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000242104.5	37	c.269C>T	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119736	0.20877	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	T;T	0.70986	-0.53;-0.53	4.21	4.21	0.49690	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	L	0.35249	1.045	0.49130	D	0.999757	D	0.61080	0.989	B	0.38020	0.263	T	0.58929	-0.7549	10	0.49607	T	0.09	-0.0783	9.4387	0.38655	0.0:0.8982:0.0:0.1018	.	90	P0CE72	ONCO_HUMAN	V	90	ENSP00000401365:A90V;ENSP00000242104:A90V	ENSP00000242104:A90V	A	+	2	0	OCM	5890121	0.958000	0.32768	0.097000	0.21041	0.115000	0.19883	2.095000	0.41729	2.065000	0.61736	0.502000	0.49764	GCG		0.498	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622		7	129	0	0	0	1	0	7	129					T	5923595	C	T	5923595	3	4	57	1	0	0	0	0	1	0	0	0	10863	768	27	1	279	1	OCM	7	5923595	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	1770586	5923595	153215068	24	6945											
GLI3	2737	broad.mit.edu	37	chr7	42005706	42005706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggctgcaggtggcgccGcccgtagccgtgggctcccc	17	16	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:42005706G>A	ENST00000395925.3	-	15	3049	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	989					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGTGGCGCCGCCCGTAGCCG	0.766									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2965-2967)Cgg>Tgg		GLI family zinc finger 3							4	5	4					7																	42005706		1824	3700	5524	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005706G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2965C>T	7.37:g.42005706G>A	ENSP00000379258:p.Arg989Trp					GLI3_ENST00000479210.1_5'UTR	p.R989W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3049	-			989					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2965C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151686	0.57151	.	.	ENSG00000106571	ENST00000395925	T	0.15372	2.43	4.98	3.13	0.36017	.	0.048653	0.85682	D	0.000000	T	0.23806	0.0576	M	0.68317	2.08	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.01464	-1.1348	10	0.66056	D	0.02	.	8.6697	0.34143	0.0:0.1206:0.4157:0.4637	.	989	P10071	GLI3_HUMAN	W	989	ENSP00000379258:R989W	ENSP00000379258:R989W	R	-	1	2	GLI3	41972231	1.000000	0.71417	0.942000	0.38095	0.702000	0.40608	2.959000	0.49153	0.457000	0.26962	0.563000	0.77884	CGG		0.766	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	60	0	0	0	1	0	12	60					A	42005706	G	A	42005706	3	1	57	1	0	0	0	0	1	0	0	0	6468	1086	38	1	1781	1	GLI3	7	42005706	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	36082111	42005706	117132957	25	6946											
HECW1	23072	broad.mit.edu	37	chr7	43540839	43540839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagagattatgtcctaCgtccccctgcaggctgcctt	10	12	0	2	rs367579167		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:43540839C>T	ENST00000395891.2	+	21	4154	c.3549C>T	c.(3547-3549)taC>taT	p.Y1183Y	HECW1_ENST00000453890.1_Silent_p.Y1149Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTATGTCCTACGTCCCCCTGC	0.438																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3547-3549)taC>taT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C		3,3803		0,3,1900	86	80	82		3549	-0.3	0.9	7		82	0,8222		0,0,4111	no	coding-synonymous	HECW1	NM_015052.3		0,3,6011	TT,TC,CC		0.0,0.0788,0.0249		1183/1607	43540839	3,12025	1903	4111	6014	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43540839C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3549C>T	7.37:g.43540839C>T						HECW1_ENST00000453890.1_Silent_p.Y1149Y	p.Y1183Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			21	4154	+			1183					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3549C>T	CCDS5469.2																																																																																				0.438	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		46	379	0	0	0	1	0	46	379					T	43540839	C	T	43540839	2	4	57	1	0	0	0	0	0	0	0	1	7072	547	19	1		1	HECW1	7	43540839	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	1535133	43540839	115597824	26	6947											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22960677	22960677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagttcgtcgtcgtcatcGtcgcggtcctgctgccagtg	12	12	1	0	rs147367612	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:22960677G>A	ENST00000356864.3	+	1	575	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	15					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGTCGTCATCGTCGCGGTCCT	0.701																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(43-45)Gtc>Atc		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							66	46	53					8																	22960677		2203	4298	6501	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22960677G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.43G>A	8.37:g.22960677G>A	ENSP00000349324:p.Val15Ile					TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I|TNFRSF10C_ENST00000520607.1_Intron	p.V15I	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	1	575	+		Prostate(55;0.0421)|Breast(100;0.067)	15					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.43G>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651694	0.14516	.	.	ENSG00000173535	ENST00000397703;ENST00000356864;ENST00000544885	T	0.63417	-0.04	1.76	-1.76	0.08006	.	4.787570	0.01028	U	0.004083	T	0.49881	0.1583	L	0.58101	1.795	0.21355	N	0.999717	P	0.37352	0.591	B	0.12156	0.007	T	0.41288	-0.9517	10	0.37606	T	0.19	.	5.6717	0.17725	0.0:0.0:0.6118:0.3882	.	15	O14798	TR10C_HUMAN	I	55;15;15	ENSP00000349324:V15I	ENSP00000349324:V15I	V	+	1	0	TNFRSF10C	23016622	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.237000	0.08990	-0.068000	0.12953	0.205000	0.17691	GTC		0.701	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			6	60	0	0	0	1	0	6	60					A	22960677	G	A	22960677	3	1	57	1	0	0	0	0	1	0	0	0	16334	1145	40	1	45	1	TNFRSF10C	8	22960677	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		22960677	123403345	27	6948											
GNE	10020	broad.mit.edu	37	chr9	36217507	36217507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttgacaatgtggataTagtgactggccaggactccg	12	9	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:36217507T>C	ENST00000539815.1	-	11	2064	c.2024A>G	c.(2023-2025)tAt>tGt	p.Y675C	GNE_ENST00000543356.2_Missense_Mutation_p.Y670C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000396594.3_Missense_Mutation_p.Y706C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000539208.1_Missense_Mutation_p.Y565C			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	675	N-acetylmannosamine kinase.		Y -> H (in IBM2). {ECO:0000269|PubMed:12409274}.		carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AATGTGGATATAGTGACTGGC	0.552																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2116-2118)tAt>tGt		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							119	91	100					9																	36217507		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36217507T>C	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2024A>G	9.37:g.36217507T>C	ENSP00000439155:p.Tyr675Cys					GNE_ENST00000539208.1_Missense_Mutation_p.Y565C|GNE_ENST00000539815.1_Missense_Mutation_p.Y675C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000543356.2_Missense_Mutation_p.Y670C	p.Y706C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	2228	-			675			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.2117A>G	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425353	0.83667	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99571	-4.83;-4.83;-4.83;-4.83;-6.19	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.984	D	0.98523	1.0624	10	0.52906	T	0.07	-0.3546	13.6629	0.62378	0.0:0.0:0.0:1.0	.	565;634;706;675;601	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	C	675;706;670;675;647;565;601	ENSP00000367134:Y675C;ENSP00000379839:Y706C;ENSP00000439155:Y675C;ENSP00000445117:Y565C;ENSP00000414760:Y601C	ENSP00000340770:Y670C	Y	-	2	0	GNE	36207507	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	7.649000	0.83500	2.119000	0.64992	0.459000	0.35465	TAT		0.552	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		8	229	0	0	0	1	0	8	229					C	36217507	T	C	36217507	3	2	57	1	0	0	0	0	1	0	0	0	6551	1406	49	4	148	4	GNE	9	36217507	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08		36217507	104995924	28	6949											
GRHPR	9380	broad.mit.edu	37	chr9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G													gagctagagcgaggtgtggcINSgggggcccacggcctgctct					rs369721488|rs150805048		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1	0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		10	330						10	330	---	---	---	---	G	37424908	-	G	37424907	7	5	57	1	0	1	1	0	0	0	0	0	6796	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	1207400	37424907	103788524	29	6950											
ZNF618	114991	broad.mit.edu	37	chr9	116812071	116812071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatcggcaaggtctGtgagctcatcaacgaggtga	14	8	4	3			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:116812071G>T	ENST00000374126.5	+	15	2588	c.2489G>T	c.(2488-2490)tGt>tTt	p.C830F	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.C737F			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCAAGGTCTGTGAGCTCATC	0.652																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2209-2211)tGt>tTt		zinc finger protein 618							59	66	64					9																	116812071		2067	4190	6257	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812071G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2489G>T	9.37:g.116812071G>T	ENSP00000363241:p.Cys830Phe					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C830F	p.C737F	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2309	+			830					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2210G>T		.	.	.	.	.	.	.	.	.	.	G	16.38	3.108342	0.56291	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21031	2.03;2.03	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	.	.	.	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.85130	0.982;0.994;0.997	T	0.50056	-0.8872	9	0.66056	D	0.02	-20.5356	19.0349	0.92972	0.0:0.0:1.0:0.0	.	797;830;737	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	F	830;737	ENSP00000363241:C830F;ENSP00000288466:C737F	ENSP00000288466:C737F	C	+	2	0	ZNF618	115851892	1.000000	0.71417	0.863000	0.33907	0.576000	0.36127	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	TGT		0.652	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		57	251	1	0	4.96213e-28	1	5.55169e-28	57	251					T	116812071	G	T	116812071	3	4	57	1	0	0	0	0	1	0	0	0	18095	1377	48	3	2264	3	ZNF618	9	116812071	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	79387164	116812071	24401360	30	6951											
PCDH15	65217	broad.mit.edu	37	chr10	55582841	55582842	+	Frame_Shift_Ins	INS	-	-	A													ttgggtgaaaatgggtctacINSaaaatctgttctctgtgaaa							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:55582841_55582842insA	ENST00000320301.6	-	33	5038_5039	c.4644_4645insT	c.(4642-4647)tttgtafs	p.V1549fs	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.V1509fs|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.V1546fs|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.V1480fs|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Frame_Shift_Ins_p.V1551fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.V1526fs	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1549					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTTC	0.411										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4648-4653)tttagafs		protocadherin-related 15																																				SO:0001589	frameshift_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582841_55582842insA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4645dupT	10.37:g.55582845_55582845dupA	ENSP00000322604:p.Val1549fs	HNSCC(58;0.16)				PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.R1546fs|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.R1526fs|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.R1549fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.R1509fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.R1480fs	p.R1551fs	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5044_5045	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1549					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Ins	INS	ENST00000320301.6	37	c.4650_4651insT	CCDS7248.1																																																																																				0.411	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		61	752						61	752	---	---	---	---	A	55582842	-	A	55582841	7	5	57	1	0	1	1	0	0	0	0	0	11553	478	17	0	2832	0	PCDH15	10	55582841	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08		55582841	79951906	31	6952											
MKI67	4288	broad.mit.edu	37	chr10	129904534	129904535	+	Frame_Shift_Ins	INS	-	-	T													ttgcggagatttgcagagtaINStttttttggtagttttctca							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:129904534_129904535insT	ENST00000368654.3	-	13	5944_5945	c.5569_5570insA	c.(5569-5571)atafs	p.I1857fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.I1497fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1857	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGCAGAGTATTTTTTTGGTA	0.48																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5569-5571)actfs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904534_129904535insT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5570dupA	10.37:g.129904541_129904541dupT	ENSP00000357643:p.Ile1857fs					MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1497fs	p.T1857fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5944_5945	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1857			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Ins	INS	ENST00000368654.3	37	c.5569_5570insA	CCDS7659.1																																																																																				0.48	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	1379						7	1379	---	---	---	---	T	129904535	-	T	129904534	7	5	57	1	0	1	1	0	0	0	0	0	9639	449	16	0	4212	0	MKI67	10	129904534	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	74321693	129904534	5630213	32	6953											
DCHS1	8642	broad.mit.edu	37	chr11	6652947	6652947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcacagtgcctgtggtgCtgcggggtgggctccctcca	15	13	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:6652947C>T	ENST00000299441.3	-	7	3986	c.3575G>A	c.(3574-3576)aGc>aAc	p.S1192N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1192	Cadherin 11. {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)			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)		GCCTGTGGTGCTGCGGGGTGG	0.617																																						ENST00000299441.3																			0				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						c.(3574-3576)aGc>aAc		dachsous cadherin-related 1							62	52	56					11																	6652947		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652947C>T	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.3575G>A	11.37:g.6652947C>T	ENSP00000299441:p.Ser1192Asn					RP11-732A19.6_ENST00000526633.1_RNA	p.S1192N	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	3986	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1192			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3575G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016238	0.54468	.	.	ENSG00000166341	ENST00000299441	T	0.01838	4.61	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000055	T	0.07279	0.0184	L	0.41906	1.305	0.48696	D	0.999692	D	0.61697	0.99	D	0.64042	0.921	T	0.53746	-0.8395	10	0.23891	T	0.37	.	17.9063	0.88919	0.0:1.0:0.0:0.0	.	1192	Q96JQ0	PCD16_HUMAN	N	1192	ENSP00000299441:S1192N	ENSP00000299441:S1192N	S	-	2	0	DCHS1	6609523	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	5.391000	0.66266	2.711000	0.92665	0.655000	0.94253	AGC		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	93	0	0	0	1	0	5	93					T	6652947	C	T	6652947	3	4	57	1	0	0	0	0	1	0	0	0	4298	797	28	2	6381	2	DCHS1	11	6652947	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		6652947	128353569	33	6954											
SLC6A5	9152	broad.mit.edu	37	chr11	20673951	20673951	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgttccgtcatctggatCccaattatgtttgtgataaa	8	9	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:20673951C>T	ENST00000525748.1	+	15	2460	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	729					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATCTGGATCCCAATTATGT	0.488																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2185-2187)atC>atT		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						213	206	209					11																	20673951		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673951C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2187C>T	11.37:g.20673951C>T						SLC6A5_ENST00000528440.1_3'UTR	p.I729I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			15	2460	+			729					O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2187C>T	CCDS7854.1																																																																																				0.488	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		25	770	0	0	0	1	0	25	770					T	20673951	C	T	20673951	2	4	57	1	0	0	0	0	0	0	0	1	14737	845	30	2		2	SLC6A5	11	20673951	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	14021004	20673951	114332565	34	6955											
SVIP	258010	broad.mit.edu	37	chr11	22849412	22849412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcaagctttgctctTttctcttcctaaataaatgt	5	11	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:22849412T>G	ENST00000354193.4	-	2	179	c.63A>C	c.(61-63)aaA>aaC	p.K21N	SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000525963.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000499625.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	21					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						GCTTTGCTCTTTTCTCTTCCT	0.274																																						ENST00000354193.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						c.(61-63)aaA>aaC		small VCP/p97-interacting protein							118	107	111					11																	22849412		1803	4068	5871	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22849412T>G	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.63A>C	11.37:g.22849412T>G	ENSP00000346130:p.Lys21Asn					SVIP_ENST00000533774.1_5'UTR	p.K21N	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN			2	179	-			21						Missense_Mutation	SNP	ENST00000354193.4	37	c.63A>C	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444716	0.43429	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.42	4.3	0.51218	.	0.000000	0.50627	D	0.000102	T	0.58991	0.2161	.	.	.	0.30377	N	0.782339	D	0.61697	0.99	P	0.59487	0.858	T	0.62618	-0.6816	8	0.72032	D	0.01	-16.2028	8.3153	0.32097	0.0:0.0903:0.0:0.9097	.	21	Q8NHG7	SVIP_HUMAN	N	21	.	ENSP00000346130:K21N	K	-	3	2	SVIP	22805988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.313000	0.43735	1.002000	0.39104	-0.256000	0.11100	AAA		0.274	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		12	221	0	0	0	1	0	12	221					G	22849412	T	G	22849412	3	3	57	1	0	0	0	0	1	0	0	0	15474	1838	64	4	182	4	SVIP	11	22849412	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08	2175461	22849412	112157104	35	6956											
AMBRA1	55626	broad.mit.edu	37	chr11	46568662	46568662	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcttaaggaaatactcaCgtgtaaatcccaaatcctaa	5	9	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:46568662C>T	ENST00000458649.2	-	4	797		c.e4+1		AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATACTCACGTGTAAATCC	0.463																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.e4+1		autophagy/beclin-1 regulator 1							102	93	96					11																	46568662		2201	4299	6500	SO:0001630	splice_region_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46568662C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.378+1G>A	11.37:g.46568662C>T						AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site				Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	4	797	-								A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	SNP	ENST00000458649.2	37			.	.	.	.	.	.	.	.	.	.	C	21.5	4.154684	0.78114	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7889	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMBRA1	46525238	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.497000	0.66924	2.671000	0.90904	0.655000	0.94253	.		0.463	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	Intron	6	347	0	0	0	1	0	6	347					T	46568662	C	T	46568662	5	4	57	1	0	0	0	0	0	0	1	0	565	550	19	1	3311	1	AMBRA1	11	46568662	Splice_Site	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	23719250	46568662	88437854	36	6957											
SPTBN2	6712	broad.mit.edu	37	chr11	66454976	66454976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctgctcctgggcagatGgctctgggcctcgaggcggc	15	14	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:66454976G>A	ENST00000533211.1	-	35	6975	c.6644C>T	c.(6643-6645)cCa>cTa	p.P2215L	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2215					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGGCAGATGGCTCTGGGCC	0.667																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6643-6645)cCa>cTa		spectrin, beta, non-erythrocytic 2							56	62	60					11																	66454976		2198	4292	6490	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454976G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6644C>T	11.37:g.66454976G>A	ENSP00000432568:p.Pro2215Leu					SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L	p.P2215L			O15020	SPTN2_HUMAN			35	6975	-			2215					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6644C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153763	0.06585	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.29397	1.57;1.57;1.57	4.92	1.35	0.21983	.	0.493128	0.20618	N	0.088823	T	0.10937	0.0267	N	0.02539	-0.55	0.25958	N	0.982667	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	10	0.25106	T	0.35	.	8.3493	0.32292	0.5453:0.0:0.4547:0.0	.	2215	O15020	SPTN2_HUMAN	L	2215;2215;2215;759	ENSP00000432568:P2215L;ENSP00000311489:P2215L;ENSP00000433593:P2215L	ENSP00000311489:P2215L	P	-	2	0	SPTBN2	66211552	0.987000	0.35691	0.960000	0.40013	0.210000	0.24377	0.995000	0.29706	0.050000	0.15949	-0.137000	0.14449	CCA		0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		56	506	0	0	0	1	0	56	506					A	66454976	G	A	66454976	3	1	57	1	0	0	0	0	1	0	0	0	15172	1348	47	2	544	2	SPTBN2	11	66454976	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	19886314	66454976	68551540	37	6958											
YAP1	10413	broad.mit.edu	37	chr11	101984938	101984938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttcgagctcattcctctCcagcttctctgcagttggga	9	12	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:101984938C>T	ENST00000282441.5	+	2	773	c.385C>T	c.(385-387)Cca>Tca	p.P129S	YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S|YAP1_ENST00000526343.1_Missense_Mutation_p.P129S	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	129					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCATTCCTCTCCAGCTTCTCT	0.507																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(385-387)Cca>Tca		Yes-associated protein 1							62	61	61					11																	101984938		2203	4299	6502	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:101984938C>T		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.385C>T	11.37:g.101984938C>T	ENSP00000282441:p.Pro129Ser					YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.P129S|YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S	p.P129S	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	2	773	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	129					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.385C>T	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958749	0.74016	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439	T;T	0.53857	0.6;0.6	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.75085	2.285	0.80722	D	1	B;P;B;B	0.48503	0.437;0.911;0.108;0.173	B;P;B;B	0.50860	0.095;0.652;0.042;0.09	T	0.69650	-0.5088	10	0.59425	D	0.04	.	19.4808	0.95008	0.0:1.0:0.0:0.0	.	129;129;129;129	E9PRV2;P46937-2;P46937;P46937-3	.;.;YAP1_HUMAN;.	S	129;129;129;129;44;129	ENSP00000434134:P129S;ENSP00000331023:P129S	ENSP00000282441:P129S	P	+	1	0	YAP1	101490148	1.000000	0.71417	0.931000	0.37212	0.956000	0.61745	7.792000	0.85828	2.611000	0.88343	0.563000	0.77884	CCA		0.507	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		10	295	0	0	0	1	0	10	295					T	101984938	C	T	101984938	3	4	57	1	0	0	0	0	1	0	0	0	17520	855	30	2	391	2	YAP1	11	101984938	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	35529962	101984938	33021578	38	6959											
PTPRO	5800	broad.mit.edu	37	chr12	15673188	15673188	+	Silent	SNP	G	G	A													aacttccgggttaccatggtGacgtggggagatccagaatt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673188G>A	ENST00000281171.4	+	10	2163	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	PTPRO_ENST00000348962.2_Silent_p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	611	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTACCATGGTGACGTGGGGAG	0.483																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1831-1833)gtG>gtA		protein tyrosine phosphatase, receptor type, O							139	127	131					12																	15673188		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15673188G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1833G>A	12.37:g.15673188G>A						PTPRO_ENST00000348962.2_Silent_p.V611V	p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			10	2163	+		Hepatocellular(102;0.244)	611					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1833G>A	CCDS8675.1																																																																																				0.483	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			121	463	0	0	0	1	0	121	463					A	15673188	G	A	15673188	2	1	57	1	0	0	0	0	0	0	0	1	12859	1277	45	2		2	PTPRO	12	15673188	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		15673188	118178707	39	6960	49	2									
PTPRO	5800	broad.mit.edu	37	chr12	15673198	15673198	+	Missense_Mutation	SNP	G	G	C													ttaccatggtgacgtggggaGatccagaattgagctgctgt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673198G>C	ENST00000281171.4	+	10	2173	c.1843G>C	c.(1843-1845)Gat>Cat	p.D615H	PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	615	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACGTGGGGAGATCCAGAATT	0.478																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1843-1845)Gat>Cat		protein tyrosine phosphatase, receptor type, O							138	124	129					12																	15673198		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15673198G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1843G>C	12.37:g.15673198G>C	ENSP00000281171:p.Asp615His					PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			10	2173	+		Hepatocellular(102;0.244)	615					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1843G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740810	0.89573	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.54279	3.78;0.58	5.2	5.2	0.72013	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.249218	0.27922	N	0.017316	T	0.52725	0.1752	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.927	P;P	0.54026	0.74;0.554	T	0.58053	-0.7704	10	0.72032	D	0.01	.	17.0929	0.86627	0.0:0.0:1.0:0.0	.	615;615	Q16827-2;Q16827	.;PTPRO_HUMAN	H	615	ENSP00000281171:D615H;ENSP00000343434:D615H	ENSP00000281171:D615H	D	+	1	0	PTPRO	15564465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.851000	0.92205	2.689000	0.91719	0.655000	0.94253	GAT		0.478	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			107	452	0	0	0	1	0	107	452					C	15673198	G	C	15673198	3	2	57	1	0	0	0	0	1	0	0	0	12859	942	33	5	1881	5	PTPRO	12	15673198	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	10	15673198	118178697	40	6961	49	2									
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		21	117	0	0	0	1	0	21	117					T	25398284	C	T	25398284	3	4	57	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	9725086	25398284	108453611	41	6962											
COL2A1	1280	broad.mit.edu	37	chr12	48372412	48372412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccaggctctcccttctCgccagggggtccagcaggac	11	16	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:48372412C>T	ENST00000380518.3	-	42	3027	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	955	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTCCCTTCTCGCCAGGGGGT	0.637																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2863-2865)Gag>Aag		collagen, type II, alpha 1	Collagenase(DB00048)						30	32	31					12																	48372412		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372412C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2863G>A	12.37:g.48372412C>T	ENSP00000369889:p.Glu955Lys					COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K|COL2A1_ENST00000493991.1_5'UTR	p.E955K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			42	3027	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	955			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2863G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987880	0.74589	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93247	-3.19;-3.19	5.33	4.43	0.53597	.	0.061183	0.64402	D	0.000007	D	0.90273	0.6958	L	0.48218	1.51	0.58432	D	0.999999	P;P	0.41524	0.747;0.753	B;B	0.37267	0.207;0.245	D	0.90190	0.4249	10	0.66056	D	0.02	.	15.1154	0.72397	0.1424:0.8576:0.0:0.0	.	886;955	P02458-1;P02458	.;CO2A1_HUMAN	K	955;886;886	ENSP00000369889:E955K;ENSP00000338213:E886K	ENSP00000338213:E886K	E	-	1	0	COL2A1	46658679	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.797000	0.62503	1.223000	0.43536	0.561000	0.74099	GAG		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		24	241	0	0	0	1	0	24	241					T	48372412	C	T	48372412	3	4	57	1	0	0	0	0	1	0	0	0	3696	893	31	1	1652	1	COL2A1	12	48372412	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	22974128	48372412	85479483	42	6963											
KRT7	3855	broad.mit.edu	37	chr12	52639214	52639214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgccaagttggaggccGccattgccgaggctgaggag	17	10	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:52639214G>A	ENST00000331817.5	+	7	1186	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	335	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GTTGGAGGCCGCCATTGCCGA	0.657																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1003-1005)Gcc>Acc		keratin 7							24	25	25					12																	52639214		2202	4299	6501	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639214G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1003G>A	12.37:g.52639214G>A	ENSP00000329243:p.Ala335Thr					RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	p.A335T	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1186	+			335			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.1003G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613607	0.66672	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	T	0.77229	-1.08	4.4	1.86	0.25419	Filament (1);	0.422512	0.17624	N	0.167626	T	0.71500	0.3347	L	0.58969	1.84	0.25362	N	0.988777	D	0.60160	0.987	P	0.45971	0.499	T	0.65331	-0.6194	10	0.87932	D	0	.	3.6871	0.08332	0.1184:0.1464:0.5855:0.1496	.	335	P08729	K2C7_HUMAN	T	335;311	ENSP00000329243:A335T	ENSP00000329243:A335T	A	+	1	0	KRT7	50925481	0.610000	0.26983	0.841000	0.33234	0.981000	0.71138	0.961000	0.29267	0.867000	0.35654	0.561000	0.74099	GCC		0.657	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		4	134	0	0	0	1	0	4	134					A	52639214	G	A	52639214	3	1	57	1	0	0	0	0	1	0	0	0	8513	1087	38	1	1029	1	KRT7	12	52639214	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	4266802	52639214	81212681	43	6964											
AVIL	10677	broad.mit.edu	37	chr12	58207947	58207947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaccgagaggatgacGtagcagtccccctcatagaa	11	12	2	3	rs141365699		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:58207947G>A	ENST00000257861.3	-	2	559	c.129C>T	c.(127-129)taC>taT	p.Y43Y	AVIL_ENST00000537081.1_Silent_p.Y36Y|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	43	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGATGACGTAGCAGTCCC	0.607																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(106-108)taC>taT		advillin		G		0,4406		0,0,2203	79	66	70		129	3.1	0.8	12	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AVIL	NM_006576.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		43/820	58207947	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207947G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.129C>T	12.37:g.58207947G>A						AVIL_ENST00000257861.3_Silent_p.Y43Y	p.Y36Y			O75366	AVIL_HUMAN			2	107	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		43			Core (By similarity).		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.108C>T	CCDS8959.1																																																																																				0.607	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		8	111	0	0	0	1	0	8	111					A	58207947	G	A	58207947	2	1	57	1	0	0	0	0	0	0	0	1	1228	1140	40	1		1	AVIL	12	58207947	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	5568733	58207947	75643948	44	6965											
CPM	1368	broad.mit.edu	37	chr12	69260780	69260780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcatgacagctccaacGtaatttcaaaacactgggcc	7	12	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:69260780G>A	ENST00000551568.1	-	7	896	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CPM_ENST00000338356.3_Missense_Mutation_p.T279M|CPM_ENST00000546373.1_Missense_Mutation_p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	279					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGCTCCAACGTAATTTCAAA	0.383																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(835-837)aCg>aTg		carboxypeptidase M							105	101	102					12																	69260780		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69260780G>A	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.836C>T	12.37:g.69260780G>A	ENSP00000448517:p.Thr279Met					CPM_ENST00000338356.3_Missense_Mutation_p.T279M|CPM_ENST00000546373.1_Missense_Mutation_p.T279M	p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		7	896	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		279					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.836C>T	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.779005|4.779005	0.90195|0.90195	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551897|ENST00000551568;ENST00000338356;ENST00000546373	.|T;T;T	.|0.05786	.|3.39;3.39;3.39	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Peptidase M14, carboxypeptidase A (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37945|0.37945	0.1022|0.1022	M|M	0.93150|0.93150	3.385|3.385	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.48864|0.48864	-0.8997|-0.8997	5|9	.|.	.|.	.|.	-16.4712|-16.4712	19.8696|19.8696	0.96845|0.96845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279	.|P14384	.|CBPM_HUMAN	C|M	82|279	.|ENSP00000448517:T279M;ENSP00000339157:T279M;ENSP00000447255:T279M	.|.	R|T	-|-	1|2	0|0	CPM|CPM	67547047|67547047	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.869000|0.869000	0.49853|0.49853	9.429000|9.429000	0.97481|0.97481	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.383	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		50	404	0	0	0	1	0	50	404					A	69260780	G	A	69260780	3	1	57	1	0	0	0	0	1	0	0	0	3817	1145	40	1	507	1	CPM	12	69260780	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	11052833	69260780	64591115	45	6966											
APAF1	317	broad.mit.edu	37	chr12	99071230	99071230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacatcacgaatctttcCcgcttagttgtccgccccca	5	15	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:99071230C>A	ENST00000551964.1	+	13	2557	c.1821C>A	c.(1819-1821)tcC>tcA	p.S607S	APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000357310.1_Silent_p.S607S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	607					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CGAATCTTTCCCGCTTAGTTG	0.368																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(1819-1821)tcC>tcA		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						87	75	79					12																	99071230		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99071230C>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1821C>A	12.37:g.99071230C>A						APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.S607S|APAF1_ENST00000333991.1_Intron	p.S607S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			13	2398	+			607					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.1821C>A	CCDS9069.1																																																																																				0.368	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		11	319	1	0	0.0692343	1	0.0704818	11	319					A	99071230	C	A	99071230	2	1	57	1	0	0	0	0	0	0	0	1	755	610	22	3		3	APAF1	12	99071230	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	29810450	99071230	34780665	46	6967											
ATP2A2	488	broad.mit.edu	37	chr12	110765385	110765385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgctgctgggaaagctAtgggagtggtggtagcaact	15	6	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:110765385A>G	ENST00000539276.2	+	8	767	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V|ATP2A2_ENST00000395494.2_Missense_Mutation_p.M193V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	220					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGGAAAGCTATGGGAGTGGT	0.463																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(577-579)Atg>Gtg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							192	191	192					12																	110765385		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765385A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.658A>G	12.37:g.110765385A>G	ENSP00000440045:p.Met220Val					ATP2A2_ENST00000539276.2_Missense_Mutation_p.M220V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V	p.M193V			P16615	AT2A2_HUMAN			7	1140	+			220					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.577A>G	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.218|9.218	1.032607|1.032607	0.19590|0.19590	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.90004|.	-2.6;-2.6;-2.6|.	5.38|5.38	5.38|5.38	0.77491|0.77491	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.135853|.	0.85682|.	D|.	0.000000|.	T|T	0.21267|0.21267	0.0512|0.0512	N|N	0.00760|0.00760	-1.21|-1.21	0.40109|0.40109	D|D	0.976467|0.976467	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.30909|0.30909	-0.9962|-0.9962	10|5	0.11794|.	T|.	0.64|.	.|.	15.7336|15.7336	0.77825|0.77825	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193;220;220|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	V|C	220;193;220|110	ENSP00000311186:M220V;ENSP00000378872:M193V;ENSP00000440045:M220V|.	ENSP00000311186:M220V|.	M|Y	+|+	1|2	0|0	ATP2A2|ATP2A2	109249768|109249768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.131000|6.131000	0.71670|0.71670	2.169000|2.169000	0.68431|0.68431	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		32	882	0	0	0	1	0	32	882					G	110765385	A	G	110765385	3	3	57	1	0	0	0	0	1	0	0	0	1138	449	16	4	688	4	ATP2A2	12	110765385	Missense_Mutation	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	11694155	110765385	23086510	47	6968											
AACS	65985	broad.mit.edu	37	chr12	125612743	125612743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcttcatgggccacaAtttttctcttcctgtgtata	6	12	2	0	rs548348280		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:125612743A>C	ENST00000316519.6	+	13	1552	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T	AACS_ENST00000543665.1_5'Flank|AACS_ENST00000261686.6_Missense_Mutation_p.N449T|AACS_ENST00000545511.1_Missense_Mutation_p.I29L|AACS_ENST00000316543.10_Missense_Mutation_p.N47T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	449					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGGCCACAATTTTTCTCTT	0.493																																						ENST00000545511.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(85-87)Att>Ctt		acetoacetyl-CoA synthetase							74	68	70					12																	125612743		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125612743A>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1346A>C	12.37:g.125612743A>C	ENSP00000324842:p.Asn449Thr					AACS_ENST00000316543.10_Missense_Mutation_p.N47T|AACS_ENST00000316519.6_Missense_Mutation_p.N449T|AACS_ENST00000261686.6_Missense_Mutation_p.N449T	p.I29L			Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	3	5072	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.85A>C	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.28|16.28	3.078593|3.078593	0.55753|0.55753	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000545511|ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118	.|T;T;T;T;T	.|0.39787	.|1.06;1.06;2.91;1.06;1.47	4.37|4.37	4.37|4.37	0.52481|0.52481	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52008|0.52008	0.1708|0.1708	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.55605	.|0.965;0.972	.|P;P	.|0.61070	.|0.814;0.883	T|T	0.49399|0.49399	-0.8944|-0.8944	6|10	0.87932|0.08837	D|T	0|0.75	.|.	13.5933|13.5933	0.61971|0.61971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|449;449	.|Q86V21-2;Q86V21	.|.;AACS_HUMAN	L|T	29|449;449;47;114;4	.|ENSP00000324842:N449T;ENSP00000261686:N449T;ENSP00000324929:N47T;ENSP00000441686:N114T;ENSP00000441331:N4T	ENSP00000441387:I29L|ENSP00000261686:N449T	I|N	+|+	1|2	0|0	AACS|AACS	124178696|124178696	1.000000|1.000000	0.71417|0.71417	0.719000|0.719000	0.30619|0.30619	0.531000|0.531000	0.34715|0.34715	8.730000|8.730000	0.91510|0.91510	1.610000|1.610000	0.50200|0.50200	0.260000|0.260000	0.18958|0.18958	ATT|AAT		0.493	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		24	133	0	0	0	1	0	24	133					C	125612743	A	C	125612743	3	2	57	1	0	0	0	0	1	0	0	0	9	101	4	4	1396	4	AACS	12	125612743	Missense_Mutation	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	14847358	125612743	8239152	48	6969											
COG3	83548	broad.mit.edu	37	chr13	46066374	46066374	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatttttcacaaaaccaacAtcaaaattagagtaggtgga	7	6	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:46066374A>T	ENST00000349995.5	+	11	1288	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	392					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAAAACCAACATCAAAATTAG	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1174-1176)acA>acT		component of oligomeric golgi complex 3							123	103	109					13																	46066374		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46066374A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1176A>T	13.37:g.46066374A>T						COG3_ENST00000465942.1_3'UTR	p.T392T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	11	1288	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	392					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.1176A>T	CCDS9398.1																																																																																				0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			15	158	0	0	0	1	0	15	158					T	46066374	A	T	46066374	2	4	57	1	0	0	0	0	0	0	0	1	3668	204	8	5		5	COG3	13	46066374	Silent	SNP	A	TCGA-FZ-5919-01A-11D-1609-08		46066374	69103504	49	6970											
PCDH17	27253	broad.mit.edu	37	chr13	58208534	58208534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctagacagcgacttcggCgagagcgggcgtctcaccta	13	14	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:58208534C>T	ENST00000377918.3	+	1	1880	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGACTTCGGCGAGAGCGGGC	0.657																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1852-1854)ggC>ggT		protocadherin 17							47	46	46					13																	58208534		2203	4298	6501	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208534C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1854C>T	13.37:g.58208534C>T							p.G618G	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1880	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	618			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1854C>T	CCDS31986.1																																																																																				0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	451	0	0	0	1	0	8	451					T	58208534	C	T	58208534	2	4	57	1	0	0	0	0	0	0	0	1	11554	755	27	1		1	PCDH17	13	58208534	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	12142160	58208534	56961344	50	6971											
DCT	1638	broad.mit.edu	37	chr13	95095781	95095781	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaaaggaaccatgttGtacatccgattgtgaccaat	11	7	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:95095781G>T	ENST00000377028.5	-	7	1703	c.1290C>A	c.(1288-1290)taC>taA	p.Y430*	DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	430					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAACCATGTTGTACATCCGAT	0.463																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1288-1290)taC>taA		dopachrome tautomerase							118	108	112					13																	95095781		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95095781G>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1290C>A	13.37:g.95095781G>T	ENSP00000366227:p.Tyr430*					DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	p.Y430*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	7	1703	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	430					Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.1290C>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	39	7.809290	0.98501	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	.	.	.	5.86	-1.14	0.09741	.	0.123114	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-14.94	14.3767	0.66884	0.417:0.0:0.583:0.0	.	.	.	.	X	37;430;463	.	ENSP00000366220:Y37X	Y	-	3	2	DCT	93893782	0.688000	0.27680	0.973000	0.42090	0.859000	0.49053	-0.101000	0.10973	-0.421000	0.07416	-0.142000	0.14014	TAC		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			33	245	1	0	1.71298e-08	1	1.79228e-08	33	245					T	95095781	G	T	95095781	4	4	57	1	0	0	0	0	0	1	0	0	4315	1372	48	3	277	3	DCT	13	95095781	Nonsense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	36887247	95095781	20074097	51	6972											
GPHN	10243	broad.mit.edu	37	chr14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgccaggacaagtcatgCgggttacaacaggtgctcca	11	10	1	0	rs376650247		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:67576890C>T	ENST00000315266.5	+	13	2349	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000478722.1_Missense_Mutation_p.R443W|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1327-1329)Cgg>Tgg		gephyrin							191	164	173					14																	67576890		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67576890C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1228C>T	14.37:g.67576890C>T	ENSP00000312771:p.Arg410Trp					GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W	p.R443W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	14	2448	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	410			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1327C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166244	0.78339	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.6	3.65	0.41850	MoeA, N-terminal and linker domain (2);	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;1.0	P;D;P;D	0.76071	0.691;0.987;0.647;0.983	D	0.84843	0.0809	9	0.87932	D	0	-4.9782	13.259	0.60095	0.4098:0.5902:0.0:0.0	.	379;456;410;443	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	W	410;443;456;379	.	ENSP00000303019:R379W	R	+	1	2	GPHN	66646643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.956000	0.40382	1.333000	0.45449	0.655000	0.94253	CGG		0.453	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		7	542	0	0	0	1	0	7	542					T	67576890	C	T	67576890	3	4	57	1	0	0	0	0	1	0	0	0	6639	759	27	1	1381	1	GPHN	14	67576890	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		67576890	39772650	52	6973											
FLRT2	23768	broad.mit.edu	37	chr14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcatcgttcaggagcGcatagtcagcggtgagaagc	17	8	2	1	rs200926038		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1405-1407)cGc>cAc		fibronectin leucine rich transmembrane protein 2							128	112	117					14																	86089264		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089264G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1406G>A	14.37:g.86089264G>A	ENSP00000332879:p.Arg469His					FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2173	+			469			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1406G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037144	0.75617	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.61667	-0.7016	10	0.45353	T	0.12	-24.0392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	469	O43155	FLRT2_HUMAN	H	469;469;122	ENSP00000332879:R469H;ENSP00000451050:R469H	ENSP00000332879:R469H	R	+	2	0	FLRT2	85159017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.947000	0.56652	2.941000	0.99782	0.655000	0.94253	CGC		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			9	559	0	0	0	1	0	9	559					A	86089264	G	A	86089264	3	1	57	1	0	0	0	0	1	0	0	0	5964	1087	38	1	1408	1	FLRT2	14	86089264	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	18512374	86089264	21260276	53	6974											
MEX3B	84206	broad.mit.edu	37	chr15	82335639	82335639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcgcggcaatcacttcGctctcgaagcacacggagca	10	15	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:82335639G>A	ENST00000329713.4	-	2	2007	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	524					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAATCACTTCGCTCTCGAAGC	0.637																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1570-1572)agC>agT		mex-3 RNA binding family member B							74	71	72					15																	82335639		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335639G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1572C>T	15.37:g.82335639G>A						MEX3B_ENST00000558133.1_3'UTR	p.S524S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	2007	-			524					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.1572C>T	CCDS10319.1																																																																																				0.637	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		21	394	0	0	0	1	0	21	394					A	82335639	G	A	82335639	2	1	57	1	0	0	0	0	0	0	0	1	9551	1078	38	1		1	MEX3B	15	82335639	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		82335639	20195753	54	6975											
SEPT12	124404	broad.mit.edu	37	chr16	4836091	4836091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaccatcgtggacttgCccagcccgctttgccctggg	11	15	1	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:4836091C>T	ENST00000268231.8	-	3	445	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	61	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTGGACTTGCCCAGCCCGCT	0.522																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(181-183)gGc>gAc		septin 12							59	51	54					16																	4836091		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4836091C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.182G>A	16.37:g.4836091C>T	ENSP00000268231:p.Gly61Asp					SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D|SEPT12_ENST00000591861.1_5'UTR	p.G61D	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			3	445	-			61					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.182G>A	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603864	0.87157	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	D;D	0.99418	-5.87;-4.05	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96482	0.9357	10	0.87932	D	0	.	16.283	0.82707	0.0:1.0:0.0:0.0	.	61;61	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	D	61	ENSP00000379922:G61D;ENSP00000268231:G61D	ENSP00000268231:G61D	G	-	2	0	SEPT12	4776092	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.545000	0.82128	2.399000	0.81585	0.563000	0.77884	GGC		0.522	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		16	172	0	0	0	1	0	16	172					T	4836091	C	T	4836091	3	4	57	1	0	0	0	0	1	0	0	0	14112	739	26	2	926	2	SEPT12	16	4836091	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		4836091	85518662	55	6976											
APOB48R	55911	broad.mit.edu	37	chr16	28509280	28509280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagacggctgaggccatggGcagtgccagaggaggtgctg	19	9	0	3			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:28509280G>A	ENST00000431282.1	+	3	2901	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G964D|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.G973D			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	964					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAGGCCATGGGCAGTGCCAGA	0.672																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(2917-2919)gGc>gAc		apolipoprotein B receptor							41	49	46					16																	28509280		2197	4298	6495	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509280G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2891G>A	16.37:g.28509280G>A	ENSP00000416094:p.Gly964Asp					APOBR_ENST00000328423.5_Missense_Mutation_p.G964D|APOBR_ENST00000431282.1_Missense_Mutation_p.G964D	p.G973D	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	2951	+			964					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2918G>A		.	.	.	.	.	.	.	.	.	.	G	12.47	1.948093	0.34377	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61627	0.09;0.09	4.17	-1.73	0.08081	.	.	.	.	.	T	0.44685	0.1305	N	0.19112	0.55	0.09310	N	1	D;D	0.53312	0.959;0.959	P;P	0.50934	0.654;0.58	T	0.36089	-0.9762	9	0.54805	T	0.06	-0.1378	4.5553	0.12133	0.2728:0.329:0.3982:0.0	.	964;964	Q0VD83;Q9NS13	APOBR_HUMAN;.	D	964	ENSP00000327669:G964D;ENSP00000416094:G964D	ENSP00000327669:G964D	G	+	2	0	APOBR	28416781	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.114000	0.10757	-0.557000	0.06126	0.457000	0.33378	GGC		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		29	181	0	0	0	1	0	29	181					A	28509280	G	A	28509280	3	1	57	1	0	0	0	0	1	0	0	0	786	1203	42	2	2901	2	APOB48R	16	28509280	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	23673189	28509280	61845473	56	6977											
CDYL2	124359	broad.mit.edu	37	chr16	80667060	80667060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccttttgtcaaagacGtagtccttctccgcttccag	8	13	2	2	rs370004377		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:80667060G>A	ENST00000570137.2	-	3	845	c.690C>T	c.(688-690)taC>taT	p.Y230Y	CDYL2_ENST00000562812.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y|CDYL2_ENST00000563890.1_Silent_p.Y231Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	230						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGTCAAAGACGTAGTCCTTCT	0.502																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(688-690)taC>taT		chromodomain protein, Y-like 2		G		1,4405	2.1+/-5.4	0,1,2202	179	150	160		690	-4.7	0.9	16		160	0,8600		0,0,4300	no	coding-synonymous	CDYL2	NM_152342.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		230/507	80667060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80667060G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.690C>T	16.37:g.80667060G>A						CDYL2_ENST00000563890.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y|CDYL2_ENST00000562812.1_Silent_p.Y231Y	p.Y230Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			3	845	-			230					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.690C>T	CCDS32493.1																																																																																				0.502	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		22	650	0	0	0	1	0	22	650					A	80667060	G	A	80667060	2	1	57	1	0	0	0	0	0	0	0	1	3195	1140	40	1		1	CDYL2	16	80667060	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	52157780	80667060	9687693	57	6978											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:7578413C>G	ENST00000269305.4	-	5	706	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	ENST00000420246.2		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"		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Ctg	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>G	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.517G>C	17.37:g.7578413C>G	ENSP00000269305:p.Val173Leu	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_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.517G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680628	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	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	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	239	0	0	0	1	0	36	239					G	7578413	C	G	7578413	3	3	57	1	0	0	0	0	1	0	0	0	16434	478	17	5	781	5	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		7578413	73616797	58	6979											
USP36	57602	broad.mit.edu	37	chr17	76800004	76800004	+	Frame_Shift_Del	DEL	T	T	-													tactggacagcaatgtggggTgggggctgaaggggggttgc							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:76800004delT	ENST00000542802.3	-	16	2716	c.2273delA	c.(2272-2274)cacfs	p.H758fs	USP36_ENST00000312010.6_Frame_Shift_Del_p.H758fs|USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	758					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)			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)			CAATGTGGGGTGGGGGCTGAA	0.627																																						ENST00000312010.6																			0				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						c.(2272-2274)ccfs		ubiquitin specific peptidase 36							22	31	28					17																	76800004		1787	3375	5162	SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76800004delT	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.2273delA	17.37:g.76800004delT	ENSP00000441214:p.His758fs					USP36_ENST00000542802.2_Frame_Shift_Del_p.H758fs|USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs	p.H758fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2597	-			758					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Del	DEL	ENST00000542802.3	37	c.2273delA	CCDS32755.1																																																																																				0.627	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		7	341						7	341	---	---	---	---	-	76800004	T	-	76800004	7	5	57	1	0	1	0	1	0	0	0	0	17121	1696	59	0	1118	0	USP36	17	76800004	Frame_Shift_Del	DEL	T	TCGA-FZ-5919-01A-11D-1609-08	69221591	76800004	4395206	59	6980											
CD209	30835	broad.mit.edu	37	chr19	7810584	7810584	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctggtagatctcctGctgcttagatttctctggaa	9	11	2	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:7810584G>A	ENST00000315599.7	-	4	590	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	190	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCTCCTGCTGCTTAGAT	0.547																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(568-570)Cag>Tag		CD209 molecule							58	55	56					19																	7810584		1869	3829	5698	SO:0001587	stop_gained	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810584G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.568C>T	19.37:g.7810584G>A	ENSP00000315477:p.Gln190*					CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*	p.Q190*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	590	-			190			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Nonsense_Mutation	SNP	ENST00000315599.7	37	c.568C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310188	0.40895	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	.	.	.	1.04	-0.307	0.12777	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.8708	0.13631	0.0:0.5693:0.4307:0.0	.	.	.	.	X	190;190;166;146;174	.	ENSP00000204801:Q146X	Q	-	1	0	CD209	7716584	0.988000	0.35896	0.031000	0.17742	0.064000	0.16182	0.224000	0.17738	-0.035000	0.13691	0.305000	0.20034	CAG		0.547	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		43	730	0	0	0	1	0	43	730					A	7810584	G	A	7810584	4	1	57	1	0	0	0	0	0	1	0	0	2993	1328	46	2	662	2	CD209	19	7810584	Nonsense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		7810584	51318399	60	6981											
PSG6	5675	broad.mit.edu	37	chr19	43411981	43411981	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtttaagttgttgatGgtgatgtaaggcatgggcag	17	3	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:43411981G>T	ENST00000292125.2	-	4	776	c.732C>A	c.(730-732)acC>acA	p.T244T	PSG6_ENST00000187910.2_Silent_p.T244T|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	244	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				AGTTGTTGATGGTGATGTAAG	0.478																																						ENST00000187910.2																			0				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						c.(730-732)acC>acA		pregnancy specific beta-1-glycoprotein 6							262	251	255					19																	43411981		2201	4298	6499	SO:0001819	synonymous_variant	5675							g.chr19:43411981G>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.732C>A	19.37:g.43411981G>T						PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.T244T	p.T244T	NM_001031850.3	NP_001027020.1					4	797	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.732C>A	CCDS12613.1																																																																																				0.478	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		89	905	1	0	4.01556e-35	1	4.53759e-35	89	905					T	43411981	G	T	43411981	2	4	57	1	0	0	0	0	0	0	0	1	12706	1335	47	3		3	PSG6	19	43411981	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	35601397	43411981	15717002	61	6982											
PLEKHA4	57664	broad.mit.edu	37	chr19	49355519	49355530	+	In_Frame_Del	DEL	GTCTCTCTTAAG	GTCTCTCTTAAG	-													ggtgcagcaggtactccagcGtctctcttaaggtgcccagc					rs192010295|rs147150671	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:49355519_49355530delGTCTCTCTTAAG	ENST00000263265.6	-	13	1935_1946	c.1380_1391delCTTAAGAGAGAC	c.(1378-1392)accttaagagagacg>acg	p.460_464TLRET>T	PLEKHA4_ENST00000355496.5_In_Frame_Del_p.435_439TLRET>T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	460						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT	0.566																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1378-1392)acg>ac		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001651	inframe_deletion	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49355519_49355530delGTCTCTCTTAAG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1380_1391delCTTAAGAGAGAC	19.37:g.49355519_49355530delGTCTCTCTTAAG	ENSP00000263265:p.Thr460_Glu463del					PLEKHA4_ENST00000355496.5_In_Frame_Del_p.TLRET435del	p.TLRET460del	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	13	1935_1946	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					Q8N4M8|Q8N658	In_Frame_Del	DEL	ENST00000263265.6	37	c.1380_1391delCTTAAGAGAGAC	CCDS12737.1																																																																																				0.566	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			22	464						22	464	---	---	---	---	-	49355530	GTCTCTCTTAAG	-	49355519	7	5	57	1	0	1	0	1	0	0	0	0	12100	1145	40	0	980	0	PLEKHA4	19	49355519	In_Frame_Del	DEL	GTCTCTCTTAAG	TCGA-FZ-5919-01A-11D-1609-08	5943538	49355519	9773464	62	6983											
CNOT3	4849	broad.mit.edu	37	chr19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagatggcggacaagcGcaaactccaaggtactagac	13	9	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(13-15)cGc>cAc		CCR4-NOT transcription complex, subunit 3							196	161	173					19																	54646728		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646728G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His					CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR	p.R5H			O75175	CNOT3_HUMAN			1	1617	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		5					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.14G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		0.527	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	536	0	0	0	1	0	8	536					A	54646728	G	A	54646728	3	1	57	1	0	0	0	0	1	0	0	0	3629	1087	38	1	16	1	CNOT3	19	54646728	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	5291209	54646728	4482255	63	6984											
ZNF784	147808	broad.mit.edu	37	chr19	56133798	56133798	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccggctcgggtccccAccctgcccgcctccctcggc	11	22	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:56133798A>C	ENST00000325351.4	-	2	330	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	97					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)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGGGTCCCCACCCTGCCCGC	0.711																																						ENST00000325351.4																			0				upper_aerodigestive_tract(1)	1						c.(289-291)ggT>ggG		zinc finger protein 784																																				SO:0001819	synonymous_variant	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133798A>C	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.291T>G	19.37:g.56133798A>C						ZNF784_ENST00000591479.1_3'UTR	p.G97G	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	330	-			97						Silent	SNP	ENST00000325351.4	37	c.291T>G	CCDS12930.1																																																																																				0.711	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		6	57	0	0	0	1	0	6	57					C	56133798	A	C	56133798	2	2	57	1	0	0	0	0	0	0	0	1	18209	146	6	4		4	ZNF784	19	56133798	Silent	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	1487070	56133798	2995185	64	6985											
FERMT1	55612	broad.mit.edu	37	chr20	6093196	6093196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgggttccttattattttTgtcttttttcttcttcttct	4	7	5	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:6093196T>G	ENST00000217289.4	-	4	1248	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	154	FERM.|Poly-Lys.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTATTATTTTTGTCTTTTTTC	0.318																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(460-462)Aaa>Caa		fermitin family member 1							103	107	106					20																	6093196		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6093196T>G	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.460A>C	20.37:g.6093196T>G	ENSP00000217289:p.Lys154Gln					FERMT1_ENST00000536936.1_5'UTR	p.K154Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			4	1248	-			154			FERM.|Poly-Lys.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.460A>C	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456891	0.63401	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.76839	-1.05	5.77	4.66	0.58398	FERM, N-terminal (1);Band 4.1 domain (1);	0.085490	0.85682	D	0.000000	T	0.80560	0.4646	L	0.51422	1.61	0.80722	D	1	D;D	0.59357	0.979;0.985	P;P	0.59889	0.865;0.864	T	0.75972	-0.3129	10	0.16420	T	0.52	-1.0761	12.477	0.55821	0.1256:0.0:0.0:0.8744	.	154;154	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	Q	154	ENSP00000217289:K154Q	ENSP00000217289:K154Q	K	-	1	0	FERMT1	6041196	1.000000	0.71417	0.966000	0.40874	0.980000	0.70556	7.190000	0.77755	1.089000	0.41292	0.533000	0.62120	AAA		0.318	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		26	526	0	0	0	1	0	26	526					G	6093196	T	G	6093196	3	3	57	1	0	0	0	0	1	0	0	0	5842	1821	63	4	1621	4	FERMT1	20	6093196	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08		6093196	56932324	65	6986											
TTLL9	164395	broad.mit.edu	37	chr20	30526969	30526969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaagggagaagcgagtCgggggctttgacctcatgtg	18	7	1	2	rs377006514		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:30526969C>T	ENST00000375938.4	+	14	1396	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	381					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCGAGTCGGGGGCTTTG	0.577																																						ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1141-1143)gtC>gtT		tubulin tyrosine ligase-like family, member 9							72	77	75					20																	30526969		1934	4123	6057	SO:0001819	synonymous_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30526969C>T	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1143C>T	20.37:g.30526969C>T						TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375934.4_3'UTR	p.V381V			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		14	1396	+			381					A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	c.1143C>T	CCDS42863.1																																																																																				0.577	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		43	395	0	0	0	1	0	43	395					T	30526969	C	T	30526969	2	4	57	1	0	0	0	0	0	0	0	1	16788	871	31	1		1	TTLL9	20	30526969	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	24433773	30526969	32498551	66	6987											
BCOR	54880	broad.mit.edu	37	chrX	39933048	39933048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgccattgttctcttcGttaggacttggcccgggcac	10	12	1	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:39933048G>A	ENST00000378444.4	-	4	1779	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000342274.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	517					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N517N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTCTCTTCGTTAGGACTTG	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		1	Substitution - coding silent(1)	p.N517N(1)	endometrium(1)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1549-1551)aaC>aaT		BCL6 corepressor							106	63	77					X																	39933048		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933048G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1551C>T	X.37:g.39933048G>A						BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000378444.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	p.N517N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1913	-			517					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1551C>T	CCDS48093.1																																																																																				0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		11	330	0	0	0	1	0	11	330					A	39933048	G	A	39933048	2	1	57	1	0	0	0	0	0	0	0	1	1387	1136	40	1		1	BCOR	23	39933048	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		39933048	115337512	67	6988											
MAGT1	84061	broad.mit.edu	37	chrX	77112307	77112307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagatacacaagtccaccaaTaacagccaaaagcaatccca	4	13	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:77112307T>A	ENST00000358075.6	-	5	777	c.691A>T	c.(691-693)Att>Ttt	p.I231F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	199					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTCCACCAATAACAGCCAAA	0.363																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(691-693)Att>Ttt		magnesium transporter 1							74	72	73					X																	77112307		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112307T>A		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.691A>T	X.37:g.77112307T>A	ENSP00000354649:p.Ile231Phe						p.I231F	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			5	777	-			199					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.691A>T	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176840	0.78564	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.79141	-1.24	4.42	4.42	0.53409	.	0.056630	0.64402	U	0.000002	D	0.82995	0.5158	M	0.69823	2.125	0.80722	D	1	P	0.52463	0.953	P	0.54431	0.752	D	0.84953	0.0872	10	0.72032	D	0.01	-9.4975	12.6456	0.56733	0.0:0.0:0.0:1.0	.	199	Q9H0U3	MAGT1_HUMAN	F	231;82	ENSP00000354649:I231F	ENSP00000354649:I231F	I	-	1	0	MAGT1	76998963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.537000	0.45702	1.428000	0.47296	0.486000	0.48141	ATT		0.363	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		34	482	0	0	0	1	0	34	482					A	77112307	T	A	77112307	3	1	57	1	0	0	0	0	1	0	0	0	9237	1406	49	5	436	5	MAGT1	23	77112307	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08	37179259	77112307	78158253	68	6989											
PLXNA3	55558	broad.mit.edu	37	chrX	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctcttccttgccgtGgggggggccctgggcaacag					rs375310385		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gtfs		plexin A3				47,59,3613		1,0,29,16,2,35,20,1525,499	34	32	33			0.6	0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688565delG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs						p.V14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	c.42delG	CCDS14752.1																																																																																				0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	689						8	689	---	---	---	---	-	153688565	G	-	153688565	7	5	57	1	0	1	0	1	0	0	0	0	12163	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Del	DEL	G	TCGA-FZ-5919-01A-11D-1609-08	76576258	153688565	1581995	69	6990											
MUL1	79594	broad.mit.edu	37	chr1	20827710	20827710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggatgcctttgggccGctcaccgctgatgtagtggc	13	12	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:20827710G>A	ENST00000264198.3	-	4	668	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	178					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R178W(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTTTGGGCCGCTCACCGCTG	0.582																																						ENST00000264198.3																			1	Substitution - Missense(1)	p.R178W(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)	11						c.(532-534)Cgg>Tgg		mitochondrial E3 ubiquitin protein ligase 1							86	86	86					1																	20827710		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827710G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.532C>T	1.37:g.20827710G>A	ENSP00000264198:p.Arg178Trp						p.R178W	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	668	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	178					B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.532C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230677	0.79688	.	.	ENSG00000090432	ENST00000264198	T	0.26373	1.74	6.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.49234	-0.8961	10	0.51188	T	0.08	-34.0517	13.3594	0.60646	0.0:0.0:0.5937:0.4063	.	178	Q969V5	MUL1_HUMAN	W	178	ENSP00000264198:R178W	ENSP00000264198:R178W	R	-	1	2	MUL1	20700297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.410000	0.59774	0.866000	0.35629	0.655000	0.94253	CGG		0.582	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	702	0	0	0	1	0	8	702					A	20827710	G	A	20827710	3	1	58	1	0	0	0	0	1	0	0	0	10025	1086	38	1	530	1	MUL1	1	20827710	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		20827710	228422911	1	6991											
CSMD2	114784	broad.mit.edu	37	chr1	34068135	34068135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggaagaagtgatgttccCgccacaagggactgccaggg	15	9	0	2	rs370588035		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:34068135C>A	ENST00000373380.1	-	22	3383	c.3163G>T	c.(3163-3165)Ggg>Tgg	p.G1055W	CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000489419.1_5'Flank|CSMD2_ENST00000373381.4_Missense_Mutation_p.G2182W|CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2184	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2184W(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)				GTGATGTTCCCGCCACAAGGG	0.592																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.G2184W(1)	lung(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						c.(6544-6546)Ggg>Tgg		CUB and Sushi multiple domains 2							44	40	41					1																	34068135		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068135C>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.3163G>T	1.37:g.34068135C>A	ENSP00000362478:p.Gly1055Trp					CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000373380.1_Missense_Mutation_p.G1055W|CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W	p.G2182W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			43	6720	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2184			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6544G>T		.	.	.	.	.	.	.	.	.	.	C	16.62	3.175302	0.57692	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.49	4.58	0.56647	Complement control module (1);CUB (5);	0.064020	0.64402	D	0.000005	T	0.71048	0.3294	H	0.96805	3.885	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.994;0.998	D;D;D	0.91635	0.999;0.937;0.985	T	0.79077	-0.1951	10	0.41790	T	0.15	.	13.4343	0.61076	0.0:0.9247:0.0:0.0753	.	1055;2184;2182	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	2182;1055;281;281	ENSP00000362479:G2182W;ENSP00000362478:G1055W;ENSP00000362475:G281W;ENSP00000362486:G281W	ENSP00000241312:G2184W	G	-	1	0	CSMD2	33840722	1.000000	0.71417	0.931000	0.37212	0.399000	0.30720	4.986000	0.63851	1.331000	0.45412	0.655000	0.94253	GGG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		4	58	1	0	0.150653	1	0.151446	4	58					A	34068135	C	A	34068135	3	1	58	1	0	0	0	0	1	0	0	0	3956	652	23	3	4017	3	CSMD2	1	34068135	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	13240425	34068135	215182486	2	6992											
HHIPL2	79802	broad.mit.edu	37	chr1	222716971	222716971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcttcttgtccaggcaCgaataataaatatagaactt	5	9	2	1	rs182148496	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:222716971C>T	ENST00000343410.6	-	2	940	c.882G>A	c.(880-882)tcG>tcA	p.S294S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTCCAGGCACGAATAATAAA	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21012	0.0		0.0	False		,,,				2504	0.0					ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(880-882)tcG>tcA		HHIP-like 2							166	190	182					1																	222716971		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716971C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.882G>A	1.37:g.222716971C>T							p.S294S	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	940	-			294					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.882G>A	CCDS1530.2																																																																																				0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		393	1597	0	0	0	1	0	393	1597					T	222716971	C	T	222716971	2	4	58	1	0	0	0	0	0	0	0	1	7124	523	19	1		1	HHIPL2	1	222716971	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	188648836	222716971	26533650	3	6993											
OR6F1	343169	broad.mit.edu	37	chr1	247875276	247875276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatctttgatagaggtgCggacgtgaaggaaaactgtg	15	5	1	3	rs149671274	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:247875276C>T	ENST00000302084.2	-	1	829	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATAGAGGTGCGGACGTGAAG	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21156	0.0		0.0	False		,,,				2504	0.0					ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(781-783)cGc>cAc		olfactory receptor, family 6, subfamily F, member 1		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	97	93	95		782	3.7	0	1	dbSNP_134	95	0,8600		0,0,4300	yes	missense	OR6F1	NM_001005286.1	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	261/309	247875276	3,13003	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875276C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.782G>A	1.37:g.247875276C>T	ENSP00000305640:p.Arg261His					RP11-634B7.4_ENST00000449298.1_RNA	p.R261H	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	829	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		261					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.782G>A	CCDS31095.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.53	1.666716	0.29604	6.81E-4	0.0	ENSG00000169214	ENST00000302084	T	0.37752	1.18	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	N	0.001813	T	0.56077	0.1961	M	0.76838	2.35	0.09310	N	1	D	0.89917	1.0	D	0.65773	0.938	T	0.48875	-0.8996	10	0.87932	D	0	-15.3921	10.785	0.46401	0.1902:0.8098:0.0:0.0	.	261	Q8NGZ6	OR6F1_HUMAN	H	261	ENSP00000305640:R261H	ENSP00000305640:R261H	R	-	2	0	OR6F1	245941899	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.028000	0.12350	2.057000	0.61298	0.591000	0.81541	CGC		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		99	515	0	0	0	1	0	99	515					T	247875276	C	T	247875276	3	4	58	1	0	0	0	0	1	0	0	0	11243	768	27	1	148	1	OR6F1	1	247875276	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25158305	247875276	1375345	4	6994											
HEATR5B	54497	broad.mit.edu	37	chr2	37259800	37259801	+	Frame_Shift_Ins	INS	-	-	T													tgctctctttgtcccctgtaINSttttttgccaggctcatggc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:37259800_37259801insT	ENST00000233099.5	-	22	3427_3428	c.3332_3333insA	c.(3331-3333)aatfs	p.N1111fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1111						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.N1111K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCCCCTGTATTTTTTGCCAG	0.386																																						ENST00000233099.5																			1	Substitution - Missense(1)	p.N1111K(1)	lung(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3331-3333)aacfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37259800_37259801insT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3333dupA	2.37:g.37259806_37259806dupT	ENSP00000233099:p.Asn1111fs					HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			22	3427_3428	-		all_hematologic(82;0.21)	1111					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.3332_3333insA	CCDS33181.1																																																																																				0.386	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		62	515						62	515	---	---	---	---	T	37259801	-	T	37259800	7	5	58	1	0	1	1	0	0	0	0	0	7062	446	16	0	2942	0	HEATR5B	2	37259800	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08		37259800	205939573	5	6995											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134	134	134					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		8	608						8	608	---	---	---	---	-	39213243	T	-	39213243	7	5	58	1	0	1	0	1	0	0	0	0	14986	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-FZ-5920-01A-11D-1609-08	1953443	39213243	203986130	6	6996											
OTX1	5013	broad.mit.edu	37	chr2	63283271	63283271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaggccaccaccaccaCcatcaccaccaccaccacca	2	24	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:63283271C>T	ENST00000282549.2	+	5	1161	c.885C>T	c.(883-885)caC>caT	p.H295H	OTX1_ENST00000366671.3_Silent_p.H295H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	295	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccaccatcaccacc	0.637																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(883-885)caC>caT		orthodenticle homeobox 1							102	77	85					2																	63283271		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283271C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.885C>T	2.37:g.63283271C>T						OTX1_ENST00000366671.3_Silent_p.H295H	p.H295H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1161	+	Lung NSC(7;0.121)|all_lung(7;0.211)		295			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.885C>T	CCDS1873.1																																																																																				0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			6	441	0	0	0	1	0	6	441					T	63283271	C	T	63283271	2	4	58	1	0	0	0	0	0	0	0	1	11362	506	18	2		2	OTX1	2	63283271	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	24070028	63283271	179916102	7	6997											
UGP2	7360	broad.mit.edu	37	chr2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-													ttctattttcacagcacaccAaaaaagacctggatggattt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161	191	181					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		7	1782						7	1782	---	---	---	---	-	64084969	A	-	64084969	7	5	58	1	0	1	0	1	0	0	0	0	16997	131	5	0	164	0	UGP2	2	64084969	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	801698	64084969	179114404	8	6998											
ZRANB3	84083	broad.mit.edu	37	chr2	136071117	136071117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccatgactgtctccatgGcacctgaatttggagttctc	8	13	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:136071117G>A	ENST00000264159.6	-	8	1024	c.908C>T	c.(907-909)gCc>gTc	p.A303V	ZRANB3_ENST00000401392.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	303	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTCTCCATGGCACCTGAATT	0.373																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(907-909)gCc>gTc		zinc finger, RAN-binding domain containing 3							154	148	150					2																	136071117		1859	4098	5957	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136071117G>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.908C>T	2.37:g.136071117G>A	ENSP00000264159:p.Ala303Val					ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A303V	p.A303V			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	8	1120	-			303					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.908C>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841104	0.32513	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.91068	-2.78;-2.78;-2.77	5.56	2.68	0.31781	.	0.387817	0.28214	N	0.016166	D	0.90442	0.7007	M	0.76170	2.325	0.19945	N	0.999946	B;B;B	0.20459	0.011;0.045;0.009	B;B;B	0.27170	0.018;0.077;0.015	T	0.80264	-0.1455	10	0.41790	T	0.15	-19.1055	16.6166	0.84917	0.0:0.3595:0.6405:0.0	.	243;303;303	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	V	303;303;303;243	ENSP00000383979:A303V;ENSP00000264159:A303V;ENSP00000441320:A303V	ENSP00000264159:A303V	A	-	2	0	ZRANB3	135787587	0.009000	0.17119	0.743000	0.31040	0.818000	0.46254	1.424000	0.34848	0.274000	0.22072	0.467000	0.42956	GCC		0.373	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		84	706	0	0	0	1	0	84	706					A	136071117	G	A	136071117	3	1	58	1	0	0	0	0	1	0	0	0	18277	1203	42	2	2387	2	ZRANB3	2	136071117	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	71986148	136071117	107128256	9	6999											
ZEB2	9839	broad.mit.edu	37	chr2	145147456	145147456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcatgtgctgcgagtaCgagcccgagtgtgagaagcg	15	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145147456C>T	ENST00000558170.2	-	10	4391	c.3207G>A	c.(3205-3207)tcG>tcA	p.S1069S	ZEB2_ENST00000303660.4_Silent_p.S1069S|ZEB2_ENST00000409487.3_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1069					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)			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)		GCTGCGAGTACGAGCCCGAGT	0.577																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(3205-3207)tcG>tcA		zinc finger E-box binding homeobox 2							59	56	57					2																	145147456		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147456C>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.3207G>A	2.37:g.145147456C>T						ZEB2_ENST00000303660.4_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S|ZEB2_ENST00000409487.3_Silent_p.S1069S	p.S1069S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4391	-			1069					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3207G>A	CCDS2186.1																																																																																				0.577	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		55	432	0	0	0	1	0	55	432					T	145147456	C	T	145147456	2	4	58	1	0	0	0	0	0	0	0	1	17677	523	19	1		1	ZEB2	2	145147456	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	9076339	145147456	98051917	10	7000											
ZEB2	9839	broad.mit.edu	37	chr2	145156919	145156919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatgaggctgcaggaccGccttgatctcttcattcatc	8	12	4	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145156919G>A	ENST00000558170.2	-	8	3019	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V|ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	612					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)			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)		CTGCAGGACCGCCTTGATCTC	0.433																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(1834-1836)gCg>gTg		zinc finger E-box binding homeobox 2							109	110	110					2																	145156919		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.chr2:145156919G>A	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.1835C>T	2.37:g.145156919G>A	ENSP00000454157:p.Ala612Val					ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V|ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V	p.A612V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3019	-			612					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1835C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848236	0.71603	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.15487	2.44;2.42;2.42;2.6	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.81914	0.991;0.98;0.98;0.995	T	0.03025	-1.1081	10	0.62326	D	0.03	-8.8128	19.9507	0.97198	0.0:0.0:1.0:0.0	.	588;477;611;612	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	588;612;612;612	ENSP00000443792:A588V;ENSP00000302501:A612V;ENSP00000386854:A612V;ENSP00000395496:A612V	ENSP00000302501:A612V	A	-	2	0	ZEB2	144873389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.705000	0.92388	0.655000	0.94253	GCG		0.433	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		48	483	0	0	0	1	0	48	483					A	145156919	G	A	145156919	3	1	58	1	0	0	0	0	1	0	0	0	17677	1087	38	1	1821	1	ZEB2	2	145156919	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	9463	145156919	98042454	11	7001											
FKBP7	65977	broad.mit.edu	37	chr2	179343164	179343164	+	5'Flank	DEL	A	A	-													ttcttttgtctctgagcagtAaaaaggccccacagataaaa							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179343164delA	ENST00000234453.5	+	0	0				FKBP7_ENST00000424785.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TCTGAGCAGTAAAAAGGCCCC	0.448																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(61-63)ttfs		FK506 binding protein 7							114	134	128					2																	179343164		2203	4300	6503	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343164delA	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343164delA	Exception_encountered					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs	p.F21fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	121	-			21					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.63delT	CCDS33336.1																																																																																				0.448	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		9	1413						9	1413	---	---	---	---	-	179343164	A	-	179343164	6	5	58	0	1	1	0	1	0	0	0	0	5938	359	13	0		0	FKBP7	2	179343164	5'Flank	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	34186245	179343164	63856209	12	7002											
TTN	7273	broad.mit.edu	37	chr2	179614364	179614364	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcgaattgactattttCtctataagtgacaggctcca	6	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179614364C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E4255*|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTATTTTCTCTATAAGTG	0.353																																						ENST00000360870.5																			0				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						c.(12763-12765)Gaa>Taa		titin							53	57	56					2																	179614364		2202	4298	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614364C>A	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.10360+3486G>T	2.37:g.179614364C>A						TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E4255*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12985	-			406					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.12763G>T		.	.	.	.	.	.	.	.	.	.	C	52	19.625844	0.99921	.	.	ENSG00000155657	ENST00000360870	.	.	.	6.06	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	3.1963	0.06634	0.3421:0.3843:0.1928:0.0808	.	.	.	.	X	4255	.	ENSP00000354117:E4255X	E	-	1	0	TTN	179322609	0.000000	0.05858	0.050000	0.19076	0.031000	0.12232	0.430000	0.21428	1.569000	0.49696	0.655000	0.94253	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	456	1	0	1.25972e-11	1	1.34417e-11	57	456					A	179614364	C	A	179614364	1	1	58	0	1	0	0	0	0	0	0	0	16789	922	32	3		3	TTN	2	179614364	Intron	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	271200	179614364	63585009	13	7003											
DNAH7	56171	broad.mit.edu	37	chr2	196729627	196729627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattatcaaaatccaaaCgctgaaaaagctcatgaaaa	4	9	3	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:196729627C>T	ENST00000312428.6	-	41	6852	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2251					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)			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						AAAATCCAAACGCTGAAAAAG	0.403																																						ENST00000312428.6																			0				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						c.(6751-6753)cGt>cAt		dynein, axonemal, heavy chain 7							134	121	125					2																	196729627		1897	4126	6023	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729627C>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.6752G>A	2.37:g.196729627C>T	ENSP00000311273:p.Arg2251His						p.R2251H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6852	-			2251					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6752G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.380008	0.00205	.	.	ENSG00000118997	ENST00000312428	T	0.22336	1.96	5.22	-6.7	0.01766	.	1.347210	0.04612	N	0.400496	T	0.04363	0.0120	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	10	0.06236	T	0.91	.	11.2731	0.49150	0.0:0.1324:0.1985:0.6691	.	2251	Q8WXX0	DYH7_HUMAN	H	2251	ENSP00000311273:R2251H	ENSP00000311273:R2251H	R	-	2	0	DNAH7	196437872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.573000	0.02134	-1.213000	0.02617	-0.983000	0.02560	CGT		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		168	592	0	0	0	1	0	168	592					T	196729627	C	T	196729627	3	4	58	1	0	0	0	0	1	0	0	0	4622	536	19	1	5422	1	DNAH7	2	196729627	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	17115263	196729627	46469746	14	7004											
CHL1	10752	broad.mit.edu	37	chr3	433473	433473	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggctatcttttgcaataTcagataagtaagtagaaatt	7	5	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:433473T>A	ENST00000256509.2	+	23	3549	c.2907T>A	c.(2905-2907)taT>taA	p.Y969*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	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.Y969Y(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)		TTTTGCAATATCAGATAAGTA	0.318																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.Y969Y(1)	large_intestine(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						c.(2905-2907)taT>taA		cell adhesion molecule L1-like							62	63	63					3																	433473		2203	4298	6501	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433473T>A	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.2907T>A	3.37:g.433473T>A	ENSP00000256509:p.Tyr969*					CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	p.Y969*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	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)	23	3549	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	953			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.2907T>A	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	45|45	11.791210|11.791210	0.99603|0.99603	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|.	.|.	.|.	5.62|5.62	1.71|1.71	0.24356|0.24356	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.20941|.	0.0504|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39461|.	-0.9613|.	3|.	.|0.02654	.|T	.|1	.|.	8.4022|8.4022	0.32592|0.32592	0.0:0.6048:0.0:0.3952|0.0:0.6048:0.0:0.3952	.|.	.|.	.|.	.|.	N|X	156|969;953	.|.	.|ENSP00000256509:Y969X	I|Y	+|+	2|3	0|2	CHL1|CHL1	408473|408473	0.532000|0.532000	0.26346|0.26346	0.997000|0.997000	0.53966|0.53966	0.933000|0.933000	0.57130|0.57130	-0.298000|-0.298000	0.08265|0.08265	0.017000|0.017000	0.15025|0.15025	-0.248000|-0.248000	0.11899|0.11899	ATC|TAT		0.318	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		30	350	0	0	0	1	0	30	350					A	433473	T	A	433473	4	1	58	1	0	0	0	0	0	1	0	0	3358	1442	50	5	2989	5	CHL1	3	433473	Nonsense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08		433473	197588957	15	7005											
LMCD1	29995	broad.mit.edu	37	chr3	8607273	8607273	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttctggaaggatggtgcAccctggtgcggccgccatta	13	11	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(877-879)gcA>gcC		LIM and cysteine-rich domains 1							25	24	24					3																	8607273		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8607273A>C	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.879A>C	3.37:g.8607273A>C						LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA	p.A293A	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	5	1111	+			293			LIM zinc-binding 1.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.879A>C	CCDS33688.1																																																																																				0.632	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		25	141	0	0	0	1	0	25	141					C	8607273	A	C	8607273	2	2	58	1	0	0	0	0	0	0	0	1	8877	146	6	4		4	LMCD1	3	8607273	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	8173800	8607273	189415157	16	7006											
RBM5	10181	broad.mit.edu	37	chr3	50141711	50141711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatttcaggaaaagactaAaatgcttccgatgtggagca	9	7	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:50141711A>G	ENST00000347869.3	+	8	773	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	200					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAAGACTAAAATGCTTCCG	0.398																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(598-600)Aaa>Gaa		RNA binding motif protein 5							81	80	80					3																	50141711		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50141711A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.598A>G	3.37:g.50141711A>G	ENSP00000343054:p.Lys200Glu						p.K200E	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	773	+			200					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.598A>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072147	0.93950	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	T	0.59224	0.28	6.17	6.17	0.99709	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	N	0.17379	0.485	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.61855	-0.6977	10	0.30078	T	0.28	-18.5041	16.8222	0.85835	1.0:0.0:0.0:0.0	.	200	P52756	RBM5_HUMAN	E	200;199	ENSP00000343054:K200E	ENSP00000343054:K200E	K	+	1	0	RBM5	50116715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	AAA		0.398	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		57	201	0	0	0	1	0	57	201					G	50141711	A	G	50141711	3	3	58	1	0	0	0	0	1	0	0	0	13193	15	1	4	624	4	RBM5	3	50141711	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	41534438	50141711	147880719	17	7007											
PTPRG	5793	broad.mit.edu	37	chr3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacattttagaccagtatgCgcgtgttggggaagaatacc	12	7	0	3			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:61975386C>T	ENST00000474889.1	+	3	655	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACCAGTATGCGCGTGTTGGG	0.488																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(277-279)gCg>gTg		protein tyrosine phosphatase, receptor type, G							117	107	110					3																	61975386		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975386C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.278C>T	3.37:g.61975386C>T	ENSP00000418112:p.Ala93Val					PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	655	+			93			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.278C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812150	0.70797	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.68025	-0.3;-0.3	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.172596	0.50627	D	0.000104	T	0.53174	0.1780	N	0.25992	0.78	0.44547	D	0.997501	P;B	0.40931	0.733;0.044	B;B	0.27887	0.084;0.01	T	0.61058	-0.7139	10	0.72032	D	0.01	.	20.2995	0.98608	0.0:1.0:0.0:0.0	.	93;93	P23470-2;P23470	.;PTPRG_HUMAN	V	93	ENSP00000418112:A93V;ENSP00000295874:A93V	ENSP00000295874:A93V	A	+	2	0	PTPRG	61950426	0.997000	0.39634	0.967000	0.41034	0.967000	0.64934	5.697000	0.68295	2.799000	0.96334	0.655000	0.94253	GCG		0.488	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	387	0	0	0	1	0	6	387					T	61975386	C	T	61975386	3	4	58	1	0	0	0	0	1	0	0	0	12852	768	27	1	288	1	PTPRG	3	61975386	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	11833675	61975386	136047044	18	7008											
SAMD7	344658	broad.mit.edu	37	chr3	169637339	169637339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagacaatcccactgaTcccctcaccatttgggcctc	7	17	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:169637339T>C	ENST00000428432.2	+	3	442	c.53T>C	c.(52-54)aTc>aCc	p.I18T	SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATCCCACTGATCCCCTCACCA	0.423																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(52-54)aTc>aCc		sterile alpha motif domain containing 7							156	152	154					3																	169637339		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169637339T>C	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.53T>C	3.37:g.169637339T>C	ENSP00000391299:p.Ile18Thr					SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		3	442	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		18						Missense_Mutation	SNP	ENST00000428432.2	37	c.53T>C	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	9.970	1.225194	0.22457	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.54071	0.59;0.59	5.54	3.03	0.35002	.	0.448320	0.21853	N	0.068158	T	0.34221	0.0890	L	0.29908	0.895	0.09310	N	0.999995	P	0.34462	0.454	B	0.25140	0.058	T	0.21930	-1.0231	10	0.72032	D	0.01	-0.0222	7.5589	0.27839	0.0:0.0725:0.141:0.7864	.	18	Q7Z3H4	SAMD7_HUMAN	T	18	ENSP00000391299:I18T;ENSP00000334668:I18T	ENSP00000334668:I18T	I	+	2	0	SAMD7	171120033	0.999000	0.42202	0.169000	0.22859	0.436000	0.31835	2.859000	0.48364	0.426000	0.26116	0.459000	0.35465	ATC		0.423	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		63	614	0	0	0	1	0	63	614					C	169637339	T	C	169637339	3	2	58	1	0	0	0	0	1	0	0	0	13874	1435	50	4	55	4	SAMD7	3	169637339	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	107661953	169637339	28385091	19	7009											
LAP3	51056	broad.mit.edu	37	chr4	17579127	17579127	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccggctgcggggcgagtagtCgtccgacgtctggccgtgag	18	12	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:17579127C>G	ENST00000226299.4	+	1	313	c.39C>G	c.(37-39)gtC>gtG	p.V13V	LAP3_ENST00000606142.1_5'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	13					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGCGAGTAGTCGTCCGACGTC	0.697																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(37-39)gtC>gtG		leucine aminopeptidase 3							23	22	22					4																	17579127		2198	4289	6487	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17579127C>G	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.39C>G	4.37:g.17579127C>G						LAP3_ENST00000606142.1_5'UTR	p.V13V	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			1	313	+			13					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.39C>G	CCDS3422.1																																																																																				0.697	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			5	37	0	0	0	1	0	5	37					G	17579127	C	G	17579127	2	3	58	1	0	0	0	0	0	0	0	1	8654	871	31	5		5	LAP3	4	17579127	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		17579127	173575149	20	7010											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	279						8	279	---	---	---	---	-	56304532	CTG	-	56304530	7	5	58	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-FZ-5920-01A-11D-1609-08	38725403	56304530	134849746	21	7011											
MAPK10	5602	broad.mit.edu	37	chr4	86950350	86950350	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattcacggagagtgagtacCtgaaggagaaggctgtcctt	13	7	1	4			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:86950350C>A	ENST00000359221.3	-	13	1778	c.1252G>T	c.(1252-1254)Ggt>Tgt	p.G418C	MAPK10_ENST00000395157.3_Splice_Site_p.G273C|MAPK10_ENST00000449047.2_Splice_Site_p.G273C|MAPK10_ENST00000395161.2_Splice_Site_p.A418S|MAPK10_ENST00000395160.3_Splice_Site_p.A273S|MAPK10_ENST00000361569.2_Splice_Site_p.A418S|MAPK10_ENST00000395166.1_Splice_Site_p.G380C|MAPK10_ENST00000395169.3_Splice_Site_p.G380C			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	418					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTGAGTACCTGAAGGAGAA	0.358																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.e13+1		mitogen-activated protein kinase 10							207	193	198					4																	86950350		2203	4300	6503	SO:0001630	splice_region_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86950350C>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1252+1G>T	4.37:g.86950350C>A						MAPK10_ENST00000395161.2_Splice_Site_p.A418_splice|MAPK10_ENST00000449047.2_Splice_Site_p.G273_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A273_splice|MAPK10_ENST00000359221.3_Splice_Site_p.G418_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A418_splice|MAPK10_ENST00000395166.1_Splice_Site_p.G380_splice|MAPK10_ENST00000395157.3_Splice_Site_p.G273_splice	p.G380_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	13	1858	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	418					A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Splice_Site	SNP	ENST00000359221.3	37	c.1138_splice	CCDS34026.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.8|28.8|28.8	4.954118|4.954118|4.954118	0.92726|0.92726|0.92726	.|.|.	.|.|.	ENSG00000109339|ENSG00000109339|ENSG00000109339	ENST00000361569;ENST00000395160;ENST00000395161|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000395166;ENST00000449047|ENST00000515400	T;T;T|T;T;T;T;T|T	0.80033|0.80480|0.73897	-0.87;-1.33;-0.87|-0.91;-0.92;-1.38;-0.91;-0.86|-0.79	5.96|5.96|5.96	5.96|5.96|5.96	0.96718|0.96718|0.96718	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.84266|0.84266|0.84266	0.5434|0.5434|0.5434	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	0.43321|0.43321|0.43321	D|D|D	0.99534|0.99534|0.99534	B;B|D;D;D|.	0.02656|0.67145|.	0.0;0.0|0.98;0.968;0.996|.	B;B|P;P;P|.	0.06405|0.57548|.	0.001;0.002|0.823;0.792;0.711|.	T|T|T	0.82155|0.82155|0.82155	-0.0597|-0.0597|-0.0597	8|9|6	.|.|.	.|.|.	.|.|.	-14.1347|-14.1347|-14.1347	20.0074|20.0074|20.0074	0.97437|0.97437|0.97437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	304;418|273;380;418|.	B7Z1Z1;P53779-2|Q499Y8;P53779-3;P53779|.	.;.|.;.;MK10_HUMAN|.	S|C|I	418;273;418|380;418;273;380;273|330	ENSP00000355297:A418S;ENSP00000378589:A273S;ENSP00000378590:A418S|ENSP00000378598:G380C;ENSP00000352157:G418C;ENSP00000378586:G273C;ENSP00000378595:G380C;ENSP00000414469:G273C|ENSP00000424154:S330I	.|.|.	A|G|S	-|-|-	1|1|2	0|0|0	MAPK10|MAPK10|MAPK10	87169374|87169374|87169374	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.788000|6.788000|6.788000	0.75105|0.75105|0.75105	2.824000|2.824000|2.824000	0.97209|0.97209|0.97209	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGT|AGC		0.358	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		Missense_Mutation	24	347	1	0	3.08376e-08	1	3.27221e-08	24	347					A	86950350	C	A	86950350	5	1	58	1	0	0	0	0	0	0	1	0	9313	695	24	3	155	3	MAPK10	4	86950350	Splice_Site	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	30645820	86950350	104203926	22	7012											
MMRN1	22915	broad.mit.edu	37	chr4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-													tgttggcagaggagtagctgAgcagcagcagcagcaaggct							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_ENST00000394981.1_In_Frame_Del_p.Q279del|MMRN1_ENST00000264790.2_In_Frame_Del_p.Q313del|MMRN1_ENST00000508372.1_In_Frame_Del_p.Q55del			Q13201	MMRN1_HUMAN	multimerin 1	313	Poly-Gln.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(922-927)gag>g		multimerin 1																																				SO:0001651	inframe_deletion	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844391_90844393delAGC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.923_925delAGC	4.37:g.90844400_90844402delAGC	ENSP00000378431:p.Gln313del					MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del	p.EQ308del			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	1242_1244	+		Hepatocellular(203;0.114)	308					Q4W5L1|Q6P3T8|Q6ZUL9	In_Frame_Del	DEL	ENST00000394980.1	37	c.923_925delAGC	CCDS3635.1																																																																																				0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		11	1518						11	1518	---	---	---	---	-	90844393	AGC	-	90844391	7	5	58	1	0	1	0	1	0	0	0	0	9711	304	11	0	937	0	MMRN1	4	90844391	In_Frame_Del	DEL	AGC	TCGA-FZ-5920-01A-11D-1609-08	3894041	90844391	100309885	23	7013											
COL25A1	84570	broad.mit.edu	37	chr4	109784477	109784477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttaagaataactcacctTtggtccgggggctccaggtt	11	9	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:109784477T>C	ENST00000399132.1	-	21	1680	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAACTCACCTTTGGTCCGGGG	0.438																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1150-1152)Aag>Gag		collagen, type XXV, alpha 1							55	56	56					4																	109784477		1823	4082	5905	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784477T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1150A>G	4.37:g.109784477T>C	ENSP00000382083:p.Lys384Glu					COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	p.K384E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1680	-		Hepatocellular(203;0.217)	384			Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1150A>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485354	0.63962	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.93247	-1.75;-3.19;-1.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	M	0.69358	2.11	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	D	0.95671	0.8723	9	.	.	.	-5.8371	15.6433	0.77025	0.0:0.0:0.0:1.0	.	384;384	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	384;386;365;380;384;314	ENSP00000382083:K384E;ENSP00000382078:K380E;ENSP00000382077:K384E	.	K	-	1	0	COL25A1	110003926	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	6.008000	0.70739	2.084000	0.62774	0.528000	0.53228	AAG		0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		26	181	0	0	0	1	0	26	181					C	109784477	T	C	109784477	3	2	58	1	0	0	0	0	1	0	0	0	3693	1850	64	4	970	4	COL25A1	4	109784477	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	18940086	109784477	81369799	24	7014											
HAND2	9464	broad.mit.edu	37	chr4	174450243	174450243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgccgctggcatactcGgggctgtaggacagggccat	17	12	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:174450243G>A	ENST00000359562.4	-	1	1137	c.198C>T	c.(196-198)ccC>ccT	p.P66P	HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000505032.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	66					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGGCATACTCGGGGCTGTAGG	0.741																																						ENST00000359562.4																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13						c.(196-198)ccC>ccT		heart and neural crest derivatives expressed 2							5	7	6					4																	174450243		2004	3977	5981	SO:0001819	synonymous_variant	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450243G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"Basic helix-loop-helix proteins"	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.198C>T	4.37:g.174450243G>A						HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	p.P66P	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1137	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	66					B6ECG9|O95300|O95301|P97833|Q494T1	Silent	SNP	ENST00000359562.4	37	c.198C>T	CCDS3819.1																																																																																				0.741	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			8	60	0	0	0	1	0	8	60					A	174450243	G	A	174450243	2	1	58	1	0	0	0	0	0	0	0	1	6980	1103	39	1		1	HAND2	4	174450243	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	64665766	174450243	16704033	25	7015											
SLC12A7	10723	broad.mit.edu	37	chr5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctcattagggaccGtatgttctgcgggagacagg	14	9	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2248-2250)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						46	46	46					5																	1065587		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065587G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2248C>T	5.37:g.1065587G>A	ENSP00000264930:p.Arg750Trp						p.R750W	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2291	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		750					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2248C>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.66|12.66	2.004241|2.004241	0.35320|0.35320	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.92911|.	-3.13|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.071090|.	0.64402|.	D|.	0.000017|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.73962|0.73962	2.25|2.25	0.41225|0.41225	D|D	0.986537|0.986537	D|.	0.76494|.	0.999|.	P|.	0.58172|.	0.834|.	T|T	0.73291|0.73291	-0.4029|-0.4029	10|5	0.87932|.	D|.	0|.	.|.	11.8435|11.8435	0.52368|0.52368	0.0:0.0:0.8241:0.1759|0.0:0.0:0.8241:0.1759	.|.	750|.	Q9Y666|.	S12A7_HUMAN|.	W|M	750|107	ENSP00000264930:R750W|.	ENSP00000264930:R750W|.	R|T	-|-	1|2	2|0	SLC12A7|SLC12A7	1118587|1118587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.056000|0.056000	0.15407|0.15407	2.862000|2.862000	0.48388|0.48388	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	CGG|ACG		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		6	302	0	0	0	1	0	6	302					A	1065587	G	A	1065587	3	1	58	1	0	0	0	0	1	0	0	0	14438	1144	40	1	1031	1	SLC12A7	5	1065587	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		1065587	179849673	26	7016											
MTMR12	54545	broad.mit.edu	37	chr5	32268842	32268842	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcgcataggaaaacAgaaataatcgtttaagcagt	9	7	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:32268842A>T	ENST00000382142.3	-	6	718	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	183						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAGGAAAACAGAAATAATCG	0.388																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(547-549)cTg>cAg		myotubularin related protein 12							126	118	121					5																	32268842		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32268842A>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.548T>A	5.37:g.32268842A>T	ENSP00000371577:p.Leu183Gln					MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q	p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			6	718	-			183					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.548T>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464656	0.84425	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.82711	-1.64;-1.64;-1.64	5.6	5.6	0.85130	.	0.275863	0.30302	N	0.009935	D	0.89441	0.6716	L	0.57536	1.79	0.43703	D	0.996166	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.972	D	0.90263	0.4302	10	0.66056	D	0.02	.	15.798	0.78428	1.0:0.0:0.0:0.0	.	183;183;183	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	183	ENSP00000280285:L183Q;ENSP00000371577:L183Q;ENSP00000264934:L183Q	ENSP00000264934:L183Q	L	-	2	0	MTMR12	32304599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.048000	0.71046	2.140000	0.66376	0.528000	0.53228	CTG		0.388	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		87	373	0	0	0	1	0	87	373					T	32268842	A	T	32268842	3	4	58	1	0	0	0	0	1	0	0	0	9982	188	7	5	1739	5	MTMR12	5	32268842	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	31203255	32268842	148646418	27	7017											
DMGDH	29958	broad.mit.edu	37	chr5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctcaaaccagtttgtgCggcgaaaacttggcctgaaa	11	10	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		dimethylglycine dehydrogenase							76	75	76					5																	78326807		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326807C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	5.37:g.78326807C>T	ENSP00000255189:p.Arg511His					DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H|DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H	p.R511H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	10	1560	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	511					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1532G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		5	264	0	0	0	1	0	5	264					T	78326807	C	T	78326807	3	4	58	1	0	0	0	0	1	0	0	0	4597	768	27	1	1096	1	DMGDH	5	78326807	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	46057965	78326807	102588453	28	7018											
CAMK4	814	broad.mit.edu	37	chr5	110819841	110819841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaatccaagatggcaacGaggacatgaaagctattcca	8	11	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:110819841G>A	ENST00000282356.4	+	11	1497	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	367					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGATGGCAACGAGGACATGAA	0.577																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1099-1101)Gag>Aag		calcium/calmodulin-dependent protein kinase IV							67	69	68					5																	110819841		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819841G>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1099G>A	5.37:g.110819841G>A	ENSP00000282356:p.Glu367Lys					CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K	p.E367K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1497	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	367					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1099G>A	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206213	0.39003	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.67171	-0.25;-0.25	5.61	0.729	0.18266	.	0.606770	0.16661	N	0.204778	T	0.37320	0.0999	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.17722	0.019	T	0.15378	-1.0439	10	0.24483	T	0.36	.	5.8075	0.18448	0.2789:0.2466:0.4745:0.0	.	367	Q16566	KCC4_HUMAN	K	367	ENSP00000422634:E367K;ENSP00000282356:E367K	ENSP00000282356:E367K	E	+	1	0	CAMK4	110847740	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.082000	0.30803	0.325000	0.23359	-0.218000	0.12543	GAG		0.577	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		41	446	0	0	0	1	0	41	446					A	110819841	G	A	110819841	3	1	58	1	0	0	0	0	1	0	0	0	2612	1059	37	1	1141	1	CAMK4	5	110819841	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	32493034	110819841	70095419	29	7019											
PDGFRB	5159	broad.mit.edu	37	chr5	149506172	149506172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccaccaccttaaaggGcaaggctggaggcagagatg	13	10	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:149506172G>A	ENST00000261799.4	-	11	2054	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	529					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTAAAGGGCAAGGCTGGA	0.557			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1585-1587)Ccc>Tcc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96	76	83					5																	149506172		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149506172G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1585C>T	5.37:g.149506172G>A	ENSP00000261799:p.Pro529Ser						p.P529S	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	2054	-		all_hematologic(541;0.224)	529					B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1585C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495535	0.26774	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76060	-0.99	4.62	4.62	0.57501	.	0.000000	0.52532	D	0.000070	D	0.83008	0.5161	M	0.64997	1.995	0.40691	D	0.982397	D;D	0.89917	0.972;1.0	P;D	0.68621	0.694;0.959	T	0.80714	-0.1259	10	0.22109	T	0.4	.	17.8409	0.88715	0.0:0.0:1.0:0.0	.	529;529	A8KAM8;P09619	.;PGFRB_HUMAN	S	529;199	ENSP00000261799:P529S	ENSP00000261799:P529S	P	-	1	0	PDGFRB	149486365	1.000000	0.71417	0.993000	0.49108	0.142000	0.21351	3.976000	0.56867	2.285000	0.76669	0.455000	0.32223	CCC		0.557	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		4	236	0	0	0	1	0	4	236					A	149506172	G	A	149506172	3	1	58	1	0	0	0	0	1	0	0	0	11704	1203	42	2	1787	2	PDGFRB	5	149506172	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	38686331	149506172	31409088	30	7020											
PROP1	5626	broad.mit.edu	37	chr5	177421251	177421251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcggcgccgggagtgCgggcggcccctctgtcctcc	18	16	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGAGTGCGGGCGGCCCC	0.662																																						ENST00000308304.2																			2	Substitution - coding silent(2)	p.P66P(2)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(196-198)ccG>ccA		PROP paired-like homeobox 1							34	37	36					5																	177421251		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421251C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T							p.P66P	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	506	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	66						Silent	SNP	ENST00000308304.2	37	c.198G>A	CCDS4430.1																																																																																				0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		5	393	0	0	0	1	0	5	393					T	177421251	C	T	177421251	2	4	58	1	0	0	0	0	0	0	0	1	12604	755	27	1		1	PROP1	5	177421251	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27915079	177421251	3494009	31	7021											
GRM6	2916	broad.mit.edu	37	chr5	178416069	178416069	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgggcaatggcgtacacCgcatcaatcacaaactgcac	10	13	2	0	rs544297690		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:178416069C>A	ENST00000517717.1	-	7	1259	c.1221G>T	c.(1219-1221)gcG>gcT	p.A407A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.A407A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A407A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGCGTACACCGCATCAATCA	0.647																																						ENST00000231188.5																			1	Substitution - coding silent(1)	p.A407A(1)	endometrium(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1219-1221)gcG>gcT		glutamate receptor, metabotropic 6							150	128	135					5																	178416069		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416069C>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1221G>T	5.37:g.178416069C>A						RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.A407A	p.A407A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1399	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	407						Silent	SNP	ENST00000517717.1	37	c.1221G>T	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	201	1	0	0.00909568	1	0.00919193	4	201					A	178416069	C	A	178416069	2	1	58	1	0	0	0	0	0	0	0	1	6831	639	23	3		3	GRM6	5	178416069	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	994818	178416069	2499191	32	7022											
RANBP9	10048	broad.mit.edu	37	chr6	13644862	13644862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattttggttctccactcccGcatatagtcttctatatcaa	5	11	4	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:13644862G>A	ENST00000011619.3	-	6	1085	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCCACTCCCGCATATAGTCT	0.438																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1027-1029)Cgg>Tgg		RAN binding protein 9							137	129	132					6																	13644862		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644862G>A	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1027C>T	6.37:g.13644862G>A	ENSP00000011619:p.Arg343Trp					RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	p.R343W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1085	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	343					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1027C>T	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024807	0.93518	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.60797	0.16;0.16	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69506	-0.5127	10	0.87932	D	0	-12.8075	13.9455	0.64082	0.0:0.0:0.8481:0.1519	.	343	Q96S59	RANB9_HUMAN	W	343;114	ENSP00000011619:R343W;ENSP00000438162:R114W	ENSP00000011619:R343W	R	-	1	2	RANBP9	13752841	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.879000	0.56138	2.557000	0.86248	0.557000	0.71058	CGG		0.438	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			84	590	0	0	0	1	0	84	590					A	13644862	G	A	13644862	3	1	58	1	0	0	0	0	1	0	0	0	13082	1086	38	1	1198	1	RANBP9	6	13644862	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		13644862	157470205	33	7023											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027283	26027283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggtcacggcgtcccggatCacgttctccagaaacacctt	9	14	3	1	rs192365376		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(196-198)gtG>gtA		histone cluster 1, H4b							105	88	94					6																	26027283		2203	4300	6503	SO:0001819	synonymous_variant	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027283C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.198G>A	6.37:g.26027283C>T			OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.V66V	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	197	-			66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	c.198G>A	CCDS4572.1																																																																																				0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		44	271	0	0	0	1	0	44	271					T	26027283	C	T	26027283	2	4	58	1	0	0	0	0	0	0	0	1	7196	813	29	2		2	HIST1H4B	6	26027283	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	12382421	26027283	145087784	34	7024											
SCAND3	114821	broad.mit.edu	37	chr6	28539892	28539892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaatctcagcaagctcAggatagtcatttttagcttt	7	8	3	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:28539892A>G	ENST00000452236.2	-	4	4391	c.3774T>C	c.(3772-3774)ccT>ccC	p.P1258P		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cagcaagctcaggatagtcat	0.358																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3772-3774)ccT>ccC		SCAN domain containing 3							67	70	69					6																	28539892		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539892A>G																												ENST00000452236.2:c.3774T>C	6.37:g.28539892A>G							p.P1258P	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	4391	-			1258						Silent	SNP	ENST00000452236.2	37	c.3774T>C	CCDS34355.1																																																																																				0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			13	351	0	0	0	1	0	13	351					G	28539892	A	G	28539892	2	3	58	1	0	0	0	0	0	0	0	1	13926	175	7	4		4	SCAND3	6	28539892	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	2512609	28539892	142575175	35	7025											
COL11A2	1302	broad.mit.edu	37	chr6	33143414	33143414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcgtccctttggcccCtcaggaccatcctctcccct	7	20	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:33143414C>A	ENST00000374708.4	-	28	2313	c.2055G>T	c.(2053-2055)gaG>gaT	p.E685D	COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000341947.2_Missense_Mutation_p.E771D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D|COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	771	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTTTGGCCCCTCAGGACCAT	0.657																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2311-2313)gaG>gaT		collagen, type XI, alpha 2							106	92	97					6																	33143414		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143414C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2055G>T	6.37:g.33143414C>A	ENSP00000363840:p.Glu685Asp					COL11A2_ENST00000374708.4_Missense_Mutation_p.E685D|COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D	p.E771D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			30	2540	-			771			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2313G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937110	0.52972	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.3	0.408	0.16377	.	0.063917	0.64402	D	0.000013	D	0.90359	0.6983	L	0.34521	1.04	0.48040	D	0.999577	P;B;D	0.67145	0.678;0.182;0.996	P;B;D	0.77004	0.645;0.315;0.989	D	0.88446	0.3045	10	0.62326	D	0.03	.	7.8121	0.29237	0.0:0.6189:0.0:0.3811	.	664;685;771	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	D	685;771;750;745;724;711;690;664	ENSP00000363840:E685D;ENSP00000339915:E771D;ENSP00000350079:E750D;ENSP00000363846:E745D;ENSP00000363845:E724D;ENSP00000378623:E711D;ENSP00000363844:E690D;ENSP00000355123:E664D	ENSP00000339915:E771D	E	-	3	2	COL11A2	33251392	1.000000	0.71417	0.918000	0.36340	0.984000	0.73092	0.805000	0.27112	-0.036000	0.13669	0.478000	0.44815	GAG		0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			5	488	1	0	0.217242	1	0.217242	5	488					A	33143414	C	A	33143414	3	1	58	1	0	0	0	0	1	0	0	0	3677	680	24	3	3045	3	COL11A2	6	33143414	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4603522	33143414	137971653	36	7026											
DST	667	broad.mit.edu	37	chr6	56357816	56357816	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgttcagcctgagtAagccagttgatgaagtcttg	13	7	3	3			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:56357816A>T	ENST00000361203.3	-	79	19513	c.19506T>A	c.(19504-19506)ctT>ctA	p.L6502L	DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000340834.4_5'Flank|DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000370754.5_Silent_p.L6791L|DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6502					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTGAGTAAGCCAGTTGA	0.428																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(20371-20373)ctT>ctA		dystonin							109	107	108					6																	56357816		1904	4141	6045	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357816A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19506T>A	6.37:g.56357816A>T						DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000361203.3_Silent_p.L6502L|DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000312431.6_3'UTR	p.L6791L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		84	20372	-	Lung NSC(77;0.103)		6611					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.20373T>A																																																																																					0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	108	0	0	0	1	0	17	108					T	56357816	A	T	56357816	2	4	58	1	0	0	0	0	0	0	0	1	4799	349	13	5		5	DST	6	56357816	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	23214402	56357816	114757251	37	7027											
STXBP5	134957	broad.mit.edu	37	chr6	147525792	147525792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagatccaggaaacgctcCagtccgagcactttcagctc	10	14	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:147525792C>T	ENST00000321680.6	+	1	124	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000179882.6_5'Flank|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000367477.3_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	42					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAAACGCTCCAGTCCGAGCA	0.632																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(124-126)Cag>Tag		syntaxin binding protein 5 (tomosyn)							34	39	37					6																	147525792		2203	4300	6503	SO:0001587	stop_gained	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147525792C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.124C>T	6.37:g.147525792C>T	ENSP00000321826:p.Gln42*					STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000321680.6_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*	p.Q42*	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	1	232	+		Ovarian(120;0.0164)	42					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	c.124C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	39	7.312511	0.98203	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	.	.	.	4.1	4.1	0.47936	.	0.071281	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3379	0.83071	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000321826:Q42X	Q	+	1	0	STXBP5	147567485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.835000	0.75344	1.830000	0.53286	0.591000	0.81541	CAG		0.632	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			17	156	0	0	0	1	0	17	156					T	147525792	C	T	147525792	4	4	58	1	0	0	0	0	0	1	0	0	15408	595	21	2	126	2	STXBP5	6	147525792	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	91167976	147525792	23589275	38	7028											
MAD1L1	8379	broad.mit.edu	37	chr7	2020096	2020096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacgtacctgagcgtGtccgcctcctccctggagaa	14	13	0	2	rs113127342		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:2020096G>A	ENST00000406869.1	-	15	2054	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	MAD1L1_ENST00000402746.1_Silent_p.D407D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000265854.7_Silent_p.D499D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	499	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGAGCGTGTCCGCCTCCT	0.617																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1495-1497)gaC>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							31	35	33					7																	2020096		2035	4168	6203	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2020096G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1497C>T	7.37:g.2020096G>A						MAD1L1_ENST00000402746.1_Silent_p.D407D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000265854.7_Silent_p.D499D	p.D499D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	15	2054	-		Ovarian(82;0.0272)	499			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1497C>T	CCDS43539.1																																																																																				0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		4	115	0	0	0	1	0	4	115					A	2020096	G	A	2020096	2	1	58	1	0	0	0	0	0	0	0	1	9186	1368	48	2		2	MAD1L1	7	2020096	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		2020096	157118567	39	7029											
TBX20	57057	broad.mit.edu	37	chr7	35271146	35271146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagcctggaggaatccCggaatcctttggcaaaagga	13	9	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:35271146C>T	ENST00000408931.3	-	6	1386	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAGGAATCCCGGAATCCTTT	0.378																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(859-861)cGg>cAg		T-box 20							87	78	81					7																	35271146		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35271146C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.860G>A	7.37:g.35271146C>T	ENSP00000386170:p.Arg287Gln						p.R287Q	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			6	1386	-			287					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.860G>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516337	0.96402	.	.	ENSG00000164532	ENST00000408931	D	0.90676	-2.71	5.46	5.46	0.80206	p53-like transcription factor, DNA-binding (1);	0.050580	0.85682	D	0.000000	D	0.97025	0.9028	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97965	1.0340	10	0.87932	D	0	.	19.2979	0.94131	0.0:1.0:0.0:0.0	.	287	Q9UMR3	TBX20_HUMAN	Q	287	ENSP00000386170:R287Q	ENSP00000386170:R287Q	R	-	2	0	TBX20	35237671	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.814000	0.86154	2.554000	0.86153	0.511000	0.50034	CGG		0.378	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		29	275	0	0	0	1	0	29	275					T	35271146	C	T	35271146	3	4	58	1	0	0	0	0	1	0	0	0	15708	652	23	1	496	1	TBX20	7	35271146	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	33251050	35271146	123867517	40	7030											
AMPH	273	broad.mit.edu	37	chr7	38433731	38433731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggacagtggccttctcCgcctctgcttcctctcctgg	11	16	3	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38433731C>T	ENST00000356264.2	-	18	1697	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.A452A|AMPH_ENST00000325590.5_Silent_p.A452A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	494					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGGCCTTCTCCGCCTCTGCTT	0.572																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1480-1482)gcG>gcA		amphiphysin							115	106	109					7																	38433731		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38433731C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1482G>A	7.37:g.38433731C>T						AMPH_ENST00000325590.5_Silent_p.A452A|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.A452A	p.A494A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			18	1697	-			494					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1482G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	7.274	0.607831	0.14002	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.93	-0.865	0.10662	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35847	-0.9772	4	.	.	.	-0.2186	5.4285	0.16440	0.0:0.3234:0.1423:0.5344	.	.	.	.	R	377	.	.	G	-	1	0	AMPH	38400256	0.002000	0.14202	0.827000	0.32855	0.572000	0.35998	-0.546000	0.06062	-0.364000	0.08088	-0.414000	0.06135	GGA		0.572	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		79	909	0	0	0	1	0	79	909					T	38433731	C	T	38433731	2	4	58	1	0	0	0	0	0	0	0	1	588	639	23	1		1	AMPH	7	38433731	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	3162585	38433731	120704932	41	7031											
ZNF679	168417	broad.mit.edu	37	chr7	63726845	63726845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggccaagcctttagCcgctcctcaacacttgctaa	8	13	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:63726845C>T	ENST00000421025.1	+	5	1103	c.834C>T	c.(832-834)agC>agT	p.S278S	ZNF679_ENST00000255746.4_Silent_p.S278S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGCCTTTAGCCGCTCCTCAA	0.438																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(832-834)agC>agT		zinc finger protein 679							33	33	33					7																	63726845		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726845C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.834C>T	7.37:g.63726845C>T						ZNF679_ENST00000255746.4_Silent_p.S278S	p.S278S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1103	+			278						Silent	SNP	ENST00000421025.1	37	c.834C>T	CCDS47592.1																																																																																				0.438	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		5	292	0	0	0	1	0	5	292					T	63726845	C	T	63726845	2	4	58	1	0	0	0	0	0	0	0	1	18139	738	26	2		2	ZNF679	7	63726845	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25293114	63726845	95411818	42	7032											
WBSCR27	155368	broad.mit.edu	37	chr7	73249275	73249275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagggtggcctccagaGcctccttgtattgaaggttg	13	10	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:73249275G>C	ENST00000297873.4	-	6	585	c.536C>G	c.(535-537)gCt>gGt	p.A179G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	179										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGCCTCCAGAGCCTCCTTGTA	0.662																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(535-537)gCt>gGt		Williams Beuren syndrome chromosome region 27							42	42	42					7																	73249275		2203	4300	6503	SO:0001583	missense	155368							g.chr7:73249275G>C	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.536C>G	7.37:g.73249275G>C	ENSP00000297873:p.Ala179Gly						p.A179G	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			6	585	-		Lung NSC(55;0.159)	179						Missense_Mutation	SNP	ENST00000297873.4	37	c.536C>G	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254788	0.22965	.	.	ENSG00000165171	ENST00000297873	T	0.35789	1.29	5.25	0.986	0.19784	.	0.490245	0.21283	N	0.077111	T	0.22898	0.0553	L	0.48642	1.525	0.09310	N	1	P	0.44627	0.839	B	0.38562	0.276	T	0.09552	-1.0669	10	0.23302	T	0.38	-1.5537	4.1074	0.10043	0.1799:0.0:0.4992:0.3208	.	179	Q8N6F8	WBS27_HUMAN	G	179	ENSP00000297873:A179G	ENSP00000297873:A179G	A	-	2	0	WBSCR27	72887211	0.000000	0.05858	0.073000	0.20177	0.598000	0.36846	-0.042000	0.12063	0.604000	0.29930	0.549000	0.68633	GCT		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		63	267	0	0	0	1	0	63	267					C	73249275	G	C	73249275	3	2	58	1	0	0	0	0	1	0	0	0	17320	971	34	5	205	5	WBSCR27	7	73249275	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	9522430	73249275	85889388	43	7033											
TMEM130	222865	broad.mit.edu	37	chr7	98453722	98453722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccacctcttcccactcCgccaccactttgagcttcac	5	20	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:98453722C>T	ENST00000416379.2	-	4	640	c.636G>A	c.(634-636)gcG>gcA	p.A212A	TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000450876.1_Silent_p.A128A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000339375.4_Silent_p.A212A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	212	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A212A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587																																						ENST00000450876.1																			1	Substitution - coding silent(1)	p.A212A(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(382-384)gcG>gcA		transmembrane protein 130							88	80	83					7																	98453722		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98453722C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.636G>A	7.37:g.98453722C>T						TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000339375.4_Silent_p.A212A|TMEM130_ENST00000416379.2_Silent_p.A212A	p.A128A			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1699	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		212					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.384G>A	CCDS47650.1																																																																																				0.587	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		23	182	0	0	0	1	0	23	182					T	98453722	C	T	98453722	2	4	58	1	0	0	0	0	0	0	0	1	16095	639	23	1		1	TMEM130	7	98453722	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25204447	98453722	60684941	44	7034											
ACHE	43	broad.mit.edu	37	chr7	100491142	100491142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcatgcccaccgaggCggctcccgcgctctccccaa	11	19	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:100491142C>T	ENST00000412389.1	-	1	867	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000302913.4_Missense_Mutation_p.A238T|ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	238					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCCACCGAGGCGGCTCCCGCG	0.706																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(712-714)Gcc>Acc		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						32	34	34					7																	100491142		2199	4295	6494	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491142C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.712G>A	7.37:g.100491142C>T	ENSP00000394976:p.Ala238Thr					ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000412389.1_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T	p.A238T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	850	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		238					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.712G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544391	0.45280	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.26	4.37	0.52481	Carboxylesterase, type B (1);	0.051896	0.85682	D	0.000000	T	0.45357	0.1338	M	0.67569	2.06	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71656	0.974;0.929;0.955;0.952	T	0.31364	-0.9946	10	0.36615	T	0.2	.	11.5157	0.50520	0.0:0.9106:0.0:0.0894	.	238;238;238;238	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	T	238	ENSP00000403474:A238T;ENSP00000241069:A238T;ENSP00000414858:A238T;ENSP00000303211:A238T;ENSP00000394976:A238T;ENSP00000397143:A238T;ENSP00000399725:A238T;ENSP00000404865:A238T	ENSP00000241069:A238T	A	-	1	0	ACHE	100329078	1.000000	0.71417	0.142000	0.22268	0.010000	0.07245	5.843000	0.69424	1.185000	0.42971	0.491000	0.48974	GCC		0.706	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		37	406	0	0	0	1	0	37	406					T	100491142	C	T	100491142	3	4	58	1	0	0	0	0	1	0	0	0	141	768	27	1	1283	1	ACHE	7	100491142	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	2037420	100491142	58647521	45	7035											
FOXP2	93986	broad.mit.edu	37	chr7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcaacaacagcagcagCaacaacaacaacaacagcag					rs576887296|rs398124272	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:114269971_114269973delCAA	ENST00000393494.2	+	5	787_789	c.508_510delCAA	c.(508-510)caadel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acagcagcagcaacaacaacaac	0.502														34	0.00678914	0.0015	0.0072	5008	,	,		16128	0.0228		0.004	False		,,,				2504	0.0					ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269971_114269973delCAA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.508_510delCAA	7.37:g.114269980_114269982delCAA	ENSP00000377132:p.Gln191del					FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA	p.Q116del			O15409	FOXP2_HUMAN			11	1103_1105	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.283_285delCAA	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		10	268						10	268	---	---	---	---	-	114269973	CAA	-	114269971	7	5	58	1	0	1	0	1	0	0	0	0	6054	711	25	0	656	0	FOXP2	7	114269971	In_Frame_Del	DEL	CAA	TCGA-FZ-5920-01A-11D-1609-08	13778829	114269971	44868692	46	7036											
WASL	8976	broad.mit.edu	37	chr7	123329093	123329094	+	Splice_Site	DEL	TA	TA	-													tctctctctctctctctctcTacctgaagaatgaatggctt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:123329093_123329094delTA	ENST00000223023.4	-	10	1789		c.e10+1			NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like						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)			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						tctctctctctACCTGAAGAAT	0.431																																						ENST00000223023.4																			0				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						c.e10+1		Wiskott-Aldrich syndrome-like																																				SO:0001630	splice_region_variant	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.chr7:123329093_123329094delTA	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.1456+1TA>-	7.37:g.123329093_123329094delTA								NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			10	1789	-								A1JUI9|Q7Z746	Splice_Site	DEL	ENST00000223023.4	37		CCDS34743.1																																																																																				0.431	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	Intron	8	1546						8	1546	---	---	---	---	-	123329094	TA	-	123329093	8	5	58	1	0	1	0	1	0	0	1	0	17310	1537	53	0		0	WASL	7	123329093	Splice_Site	DEL	TA	TCGA-FZ-5920-01A-11D-1609-08	9059122	123329093	35809570	47	7037											
FASTK	10922	broad.mit.edu	37	chr7	150776054	150776054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggcttcggagggaggCggagccttcgctcctgttcc	17	11	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:150776054C>T	ENST00000297532.6	-	3	637	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	187					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CGGAGGGAGGCGGAGCCTTCG	0.622																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(559-561)cGc>cAc		Fas-activated serine/threonine kinase							20	20	20					7																	150776054		2201	4299	6500	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776054C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.560G>A	7.37:g.150776054C>T	ENSP00000297532:p.Arg187His					FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H|FASTK_ENST00000489884.1_5'UTR	p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	637	-			187					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.560G>A	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274842	0.80580	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.53640	1.32;1.52;0.61	4.5	3.6	0.41247	.	0.259561	0.24445	N	0.038468	T	0.45836	0.1362	L	0.27053	0.805	0.80722	D	1	D;B;D	0.89917	1.0;0.066;0.989	D;B;B	0.83275	0.996;0.007;0.375	T	0.39210	-0.9625	10	0.07175	T	0.84	.	7.4946	0.27481	0.0:0.8866:0.0:0.1134	.	187;46;187	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	H	187;187;46;187;187	ENSP00000324817:R46H;ENSP00000297532:R187H;ENSP00000418516:R187H	ENSP00000297530:R187H	R	-	2	0	FASTK	150406987	1.000000	0.71417	0.974000	0.42286	0.911000	0.54048	0.566000	0.23593	2.427000	0.82271	0.655000	0.94253	CGC		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		21	61	0	0	0	1	0	21	61					T	150776054	C	T	150776054	3	4	58	1	0	0	0	0	1	0	0	0	5709	768	27	1	1121	1	FASTK	7	150776054	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27446961	150776054	8362609	48	7038											
DLC1	10395	broad.mit.edu	37	chr8	12957788	12957788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaccccagctttgagggCgctttgtgcttgctgtgatg	12	10	1	2	rs372344109		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:12957788C>T	ENST00000276297.4	-	9	2467	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A|DLC1_ENST00000358919.2_Silent_p.A249A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	686					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTTTGAGGGCGCTTTGTGCT	0.557																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2056-2058)gcG>gcA		deleted in liver cancer 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	99	93	95		525,747,2058	-5.9	0.2	8		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	175/1018,249/1092,686/1529	12957788	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957788C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2058G>A	8.37:g.12957788C>T						DLC1_ENST00000358919.2_Silent_p.A249A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A	p.A686A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2467	-			686					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2058G>A	CCDS5989.1																																																																																				0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		72	632	0	0	0	1	0	72	632					T	12957788	C	T	12957788	2	4	58	1	0	0	0	0	0	0	0	1	4566	755	27	1		1	DLC1	8	12957788	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		12957788	133406234	49	7039											
SGCZ	137868	broad.mit.edu	37	chr8	13948053	13948056	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													gcagacgcagagttcatacaCtgtctgtcgagaacttgagg							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:13948053_13948056delCTGT	ENST00000382080.1	-	8	1550_1553	c.835_838delACAG	c.(835-840)acagtgfs	p.TV279fs	SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	266					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGTTCATACACTGTCTGTCGAGAA	0.471																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(835-840)tgfs		sarcoglycan, zeta																																				SO:0001589	frameshift_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13948053_13948056delCTGT	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.835_838delACAG	8.37:g.13948057_13948060delCTGT	ENSP00000371512:p.Thr279fs					SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	p.TV279fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1550_1553	-			266					Q6REU0	Frame_Shift_Del	DEL	ENST00000382080.1	37	c.835_838delACAG	CCDS5992.2																																																																																				0.471	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		63	641						63	641	---	---	---	---	-	13948056	CTGT	-	13948053	7	5	58	1	0	1	0	1	0	0	0	0	14254	565	20	0	104	0	SGCZ	8	13948053	Frame_Shift_Del	DEL	CTGT	TCGA-FZ-5920-01A-11D-1609-08	990265	13948053	132415969	50	7040											
TUSC3	7991	broad.mit.edu	37	chr8	15601118	15601118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgatgttggaaaaagaCggagtaagtctctgtgttgc	14	5	1	1	rs554205458		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:15601118C>T	ENST00000503731.1	+	8	1082	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TUSC3_ENST00000382020.4_Missense_Mutation_p.R312W|TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	312					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGAAAAAGACGGAGTAAGTC	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.001					ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(934-936)Cgg>Tgg		tumor suppressor candidate 3							189	208	201					8																	15601118		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601118C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.934C>T	8.37:g.15601118C>T	ENSP00000424544:p.Arg312Trp					TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W|TUSC3_ENST00000503731.1_Missense_Mutation_p.R312W	p.R312W	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1142	+			312					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.934C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376707	0.82682	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000503731	T;T;T	0.79141	-1.24;-1.12;-1.24	5.55	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	L	0.55990	1.75	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.978	D	0.85068	0.0938	10	0.87932	D	0	-15.4138	11.6623	0.51354	0.5333:0.4667:0.0:0.0	.	312;312;312	D6RIY7;Q13454-2;Q13454	.;.;TUSC3_HUMAN	W	312	ENSP00000371450:R312W;ENSP00000425777:R312W;ENSP00000424544:R312W	ENSP00000221167:R312W	R	+	1	2	TUSC3	15645489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.589000	0.53972	1.440000	0.47531	0.585000	0.79938	CGG		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		26	815	0	0	0	1	0	26	815					T	15601118	C	T	15601118	3	4	58	1	0	0	0	0	1	0	0	0	16832	527	19	1	964	1	TUSC3	8	15601118	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	1653065	15601118	130762904	51	7041											
FBXO16	157574	broad.mit.edu	37	chr8	28314447	28314447	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccaatgccagcacaCctggaaaaacaattacaatt	5	11	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:28314447C>T	ENST00000380254.2	-	5	491	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	FBXO16_ENST00000518734.1_Splice_Site_p.V103M|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.V103M|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	115	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCCAGCACACCTGGAAAAAC	0.428																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.e5-1		F-box protein 16							51	47	48					8																	28314447		2203	4300	6503	SO:0001630	splice_region_variant	157574							g.chr8:28314447C>T	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.343-1G>A	8.37:g.28314447C>T						FBXO16_ENST00000346498.2_Splice_Site_p.V103_splice|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Splice_Site_p.V103_splice	p.V115_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	5	491	-		Ovarian(32;2.06e-05)	115			F-box.		Q3T1B2|Q3T1B3|Q3T1B4	Splice_Site	SNP	ENST00000380254.2	37	c.342_splice	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777186	0.70107	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.72942	-0.7;-0.7;-0.7	5.74	5.74	0.90152	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.64402	U	0.000003	D	0.90998	0.7169	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.94043	0.7311	10	0.87932	D	0	-32.9433	18.8919	0.92408	0.0:1.0:0.0:0.0	.	103;103;115	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	M	115;103;103	ENSP00000369604:V115M;ENSP00000341416:V103M;ENSP00000429687:V103M	ENSP00000341416:V103M	V	-	1	0	FBXO16	28370366	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.499000	0.81566	2.723000	0.93209	0.650000	0.86243	GTG		0.428	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	Missense_Mutation	22	259	0	0	0	1	0	22	259					T	28314447	C	T	28314447	5	4	58	1	0	0	0	0	0	0	1	0	5754	521	18	2	555	2	FBXO16	8	28314447	Splice_Site	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	12713329	28314447	118049575	52	7042											
POTEA	340441	broad.mit.edu	37	chr8	43197470	43197470	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcaaaatggattttaaCggtaggaccattgcataagt	8	7	1	0	rs373140737		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A		C	,	0,3718		0,0,1859	120	113	115		1221,1359	-0.5	0.4	8		115	1,8187		0,1,4093	no	coding-synonymous-near-splice,coding-synonymous-near-splice	POTEA	NM_001002920.1,NM_001005365.2	,	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	,	407/453,453/499	43197470	1,11905	1859	4094	5953			340441							g.chr8:43197470C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197470C>T										Q6S8J7	POTEA_HUMAN			0	1223	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.373	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		7	741	0	0	0	1	0	7	741					T	43197470	C	T	43197470	1	4	58	0	1	0	0	0	0	0	0	0	12303	550	19	1		1	POTEA	8	43197470	RNA	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	14883023	43197470	103166552	53	7043											
CDKN2A	1029	broad.mit.edu	37	chr9	21974679	21974679	+	Frame_Shift_Del	DEL	G	G	-													tgcagaccctctacccacctGgatcggcctccgaccgtaac							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:21974679delG	ENST00000304494.5	-	1	418	c.148delC	c.(148-150)cagfs	p.Q50fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(4)|Deletion - In frame(1)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023895	CDKN2A	M		c.(148-150)agfs		cyclin-dependent kinase inhibitor 2A							86	102	96					9																	21974679		2203	4300	6503	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974679delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.148delC	9.37:g.21974679delG	ENSP00000307101:p.Gln50fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs	p.Q50fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	418	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	50		Q -> R (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.148delC	CCDS6510.1																																																																																				0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		314	1020						314	1020	---	---	---	---	-	21974679	G	-	21974679	7	5	58	1	0	1	0	1	0	0	0	0	3170	1357	47	0	535	0	CDKN2A	9	21974679	Frame_Shift_Del	DEL	G	TCGA-FZ-5920-01A-11D-1609-08		21974679	119238752	54	7044											
APBA1	320	broad.mit.edu	37	chr9	72131100	72131100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgagatggcatcgcGcttctccttgctgtaccgct	12	14	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:72131100G>A	ENST00000265381.4	-	2	1249	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	343					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGGCATCGCGCTTCTCCTTG	0.706																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1027-1029)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family A, member 1							80	59	66					9																	72131100		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131100G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1027C>T	9.37:g.72131100G>A	ENSP00000265381:p.Arg343Cys						p.R343C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1249	-			343					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1027C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472528	0.63737	.	.	ENSG00000107282	ENST00000265381	T	0.06142	3.34	5.86	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01413	-1.1361	10	0.56958	D	0.05	-12.8155	13.123	0.59338	0.0:0.0:0.1396:0.8604	.	343	Q02410	APBA1_HUMAN	C	343	ENSP00000265381:R343C	ENSP00000265381:R343C	R	-	1	0	APBA1	71320920	0.992000	0.36948	1.000000	0.80357	0.977000	0.68977	1.460000	0.35244	1.055000	0.40461	-0.262000	0.10625	CGC		0.706	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		25	394	0	0	0	1	0	25	394					A	72131100	G	A	72131100	3	1	58	1	0	0	0	0	1	0	0	0	756	1087	38	1	1534	1	APBA1	9	72131100	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	50156421	72131100	69082331	55	7045											
FANCC	2176	broad.mit.edu	37	chr9	97864014	97864014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagttcgcagctctttaAggagctctcgggccagtttt	11	10	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:97864014A>G	ENST00000289081.3	-	15	1906	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P	FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	551					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCTCTTTAAGGAGCTCTCG	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1651-1653)cTt>cCt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							65	61	62					9																	97864014		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97864014A>G	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1652T>C	9.37:g.97864014A>G	ENSP00000289081:p.Leu551Pro					FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			15	1906	-		Acute lymphoblastic leukemia(62;0.138)	551					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1652T>C	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829233	0.50845	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.56776	0.44;0.44	4.76	4.76	0.60689	.	0.080287	0.51477	D	0.000081	T	0.68742	0.3034	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72235	-0.4352	10	0.87932	D	0	-15.4197	11.7773	0.51993	1.0:0.0:0.0:0.0	.	551	Q00597	FANCC_HUMAN	P	551	ENSP00000289081:L551P;ENSP00000364454:L551P	ENSP00000289081:L551P	L	-	2	0	FANCC	96903835	0.996000	0.38824	0.900000	0.35374	0.257000	0.26127	4.471000	0.60182	2.001000	0.58596	0.459000	0.35465	CTT		0.542	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		18	180	0	0	0	1	0	18	180					G	97864014	A	G	97864014	3	3	58	1	0	0	0	0	1	0	0	0	5689	72	3	4	28	4	FANCC	9	97864014	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	25732914	97864014	43349417	56	7046											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacttcacatgatccGcaacaggggaaggcaaaagt	10	9	1	1	rs201598200		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130	118	121		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		6	578	0	0	0	1	0	6	578					A	111970268	G	A	111970268	3	1	58	1	0	0	0	0	1	0	0	0	5174	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14106254	111970268	29243163	57	7047											
CRB2	286204	broad.mit.edu	37	chr9	126125189	126125189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcctcagacccgtGcgctccagggaccgagtgcc	13	16	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:126125189G>A	ENST00000373631.3	+	2	141	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	47					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCAGACCCGTGCGCTCCAGGG	0.647																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(139-141)tGc>tAc		crumbs homolog 2 (Drosophila)							53	59	57					9																	126125189		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125189G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.140G>A	9.37:g.126125189G>A	ENSP00000362734:p.Cys47Tyr					CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			2	141	+			47					A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.140G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425593	0.62733	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.86562	-2.14;-2.01	4.7	4.7	0.59300	.	0.000000	0.47093	D	0.000248	D	0.92525	0.7626	M	0.91972	3.26	0.18873	N	0.999989	P;D	0.59357	0.936;0.985	P;P	0.55222	0.498;0.771	D	0.87265	0.2282	10	0.87932	D	0	.	11.4942	0.50398	0.0:0.3017:0.6983:0.0	.	47;47	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Y	47	ENSP00000353092:C47Y;ENSP00000362734:C47Y	ENSP00000353092:C47Y	C	+	2	0	CRB2	125165010	0.163000	0.22920	0.432000	0.26747	0.490000	0.33462	1.102000	0.31050	2.452000	0.82932	0.448000	0.29417	TGC		0.647	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		88	673	0	0	0	1	0	88	673					A	126125189	G	A	126125189	3	1	58	1	0	0	0	0	1	0	0	0	3858	1319	46	2	146	2	CRB2	9	126125189	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14154921	126125189	15088242	58	7048											
CCBL1	883	broad.mit.edu	37	chr9	131597903	131597903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtagctgctgggttggCggaagagcagctgctcccgt	15	10	0	1	rs370680048		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:131597903C>T	ENST00000302586.3	-	10	1061	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.R394H|CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	300					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GCTGGGTTGGCGGAAGAGCAG	0.607																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1180-1182)cGc>cAc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4194		0,0,2097	48	50	49		899,749,899	5.3	1	9		49	2,8440		0,2,4219	no	missense,missense,missense	CCBL1	NM_001122671.1,NM_001122672.1,NM_004059.4	29,29,29	0,2,6316	TT,TC,CC		0.0237,0.0,0.0158	benign,benign,benign	300/423,250/373,300/423	131597903	2,12634	2097	4221	6318	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597903C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.899G>A	9.37:g.131597903C>T	ENSP00000302227:p.Arg300His					CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.R300H	p.R394H			Q16773	KAT1_HUMAN			12	1330	-			300					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1181G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625195	0.46840	0.0	2.37E-4	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90732	-2.72;-2.72;-2.72	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095480	0.64402	D	0.000001	T	0.77538	0.4145	N	0.02539	-0.55	0.33759	D	0.621641	D;B;P;B	0.53151	0.958;0.312;0.754;0.312	B;B;B;B	0.36719	0.231;0.068;0.229;0.068	D	0.85923	0.1447	10	0.62326	D	0.03	-23.4967	17.9232	0.88973	0.0:1.0:0.0:0.0	.	394;300;250;300	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	H	300;250;394	ENSP00000302227:R300H;ENSP00000317342:R250H;ENSP00000399415:R394H	ENSP00000302227:R300H	R	-	2	0	CCBL1	130637724	1.000000	0.71417	0.990000	0.47175	0.211000	0.24417	5.289000	0.65656	2.468000	0.83385	0.436000	0.28706	CGC		0.607	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			6	282	0	0	0	1	0	6	282					T	131597903	C	T	131597903	3	4	58	1	0	0	0	0	1	0	0	0	2739	768	27	1	385	1	CCBL1	9	131597903	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	5472714	131597903	9615528	59	7049											
PRF1	5551	broad.mit.edu	37	chr10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgagggccgatatgCggccacccagctccacagcc	14	15	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CM021668	PRF1	M		c.(694-696)cGc>cAc		perforin 1 (pore forming protein)							56	50	52					10																	72358782		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358782C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.695G>A	10.37:g.72358782C>T	ENSP00000398568:p.Arg232His					PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	855	-			232			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.695G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733686	0.69189	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.84873	-1.91;-1.91	5.76	3.9	0.45041	Membrane attack complex component/perforin (MACPF) domain (3);	0.489144	0.21436	N	0.074564	D	0.87317	0.6147	M	0.68952	2.095	0.28340	N	0.921407	D	0.65815	0.995	P	0.55785	0.784	T	0.80955	-0.1151	10	0.48119	T	0.1	-49.3741	8.5644	0.33531	0.0:0.7593:0.0:0.2407	.	232	P14222	PERF_HUMAN	H	232	ENSP00000362305:R232H;ENSP00000398568:R232H	ENSP00000316746:R232H	R	-	2	0	PRF1	72028788	0.002000	0.14202	0.888000	0.34837	0.739000	0.42172	-0.019000	0.12546	1.424000	0.47217	0.655000	0.94253	CGC		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		5	334	0	0	0	1	0	5	334					T	72358782	C	T	72358782	3	4	58	1	0	0	0	0	1	0	0	0	12525	768	27	1	976	1	PRF1	10	72358782	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		72358782	63175965	60	7050											
PTEN	5728	broad.mit.edu	37	chr10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatatttattacatcgggGcaaatttttaaaggcacaag	8	6	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)|NS(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(427-429)gGc>gAc		phosphatase and tensin homolog							83	83	83					10																	89692944		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692944G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.428G>A	10.37:g.89692944G>A	ENSP00000361021:p.Gly143Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G143D	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1785	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	143			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.428G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887387	0.91814	.	.	ENSG00000171862	ENST00000371953	D	0.85088	-1.94	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	M	0.69523	2.12	0.80722	D	1	P	0.51537	0.946	P	0.51079	0.658	D	0.88648	0.3180	9	.	.	.	-3.0248	18.7776	0.91918	0.0:0.0:1.0:0.0	.	143	P60484	PTEN_HUMAN	D	143	ENSP00000361021:G143D	.	G	+	2	0	PTEN	89682924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGC		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	666	0	0	0	1	0	7	666					A	89692944	G	A	89692944	3	1	58	1	0	0	0	0	1	0	0	0	12785	1203	42	2	446	2	PTEN	10	89692944	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	17334162	89692944	45841803	61	7051											
ABCC2	1244	broad.mit.edu	37	chr10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-													aaaaaaagaagtctgggaccAaaaaagatgttccaaaatcc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195	213	207					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	1738						7	1738	---	---	---	---	-	101559000	A	-	101559000	7	5	58	1	0	1	0	1	0	0	0	0	53	131	5	0	934	0	ABCC2	10	101559000	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	11866056	101559000	33975747	62	7052											
OR8H2	390151	broad.mit.edu	37	chr11	55873188	55873188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgttcattctctttAccatcctgaaaattaattcc	3	11	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:55873188A>G	ENST00000313503.1	+	1	670	c.670A>G	c.(670-672)Acc>Gcc	p.T224A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATTCTCTTTACCATCCTGAA	0.388										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(670-672)Acc>Gcc		olfactory receptor, family 8, subfamily H, member 2							144	135	138					11																	55873188		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873188A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.670A>G	11.37:g.55873188A>G	ENSP00000323982:p.Thr224Ala	HNSCC(53;0.14)					p.T224A	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	670	+	Esophageal squamous(21;0.00693)		224					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.670A>G	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.294180	0.00245	.	.	ENSG00000181767	ENST00000313503	T	0.00029	8.91	3.35	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.116946	0.39341	N	0.001399	T	0.00073	0.0002	N	0.13299	0.325	0.09310	N	1	B	0.26512	0.151	B	0.30782	0.12	T	0.26643	-1.0097	10	0.02654	T	1	.	3.683	0.08317	0.5643:0.0:0.099:0.3368	.	224	Q8N162	OR8H2_HUMAN	A	224	ENSP00000323982:T224A	ENSP00000323982:T224A	T	+	1	0	OR8H2	55629764	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.174000	0.16743	0.421000	0.25980	0.362000	0.22060	ACC		0.388	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		74	712	0	0	0	1	0	74	712					G	55873188	A	G	55873188	3	3	58	1	0	0	0	0	1	0	0	0	11280	391	14	4	672	4	OR8H2	11	55873188	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08		55873188	79133328	63	7053											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546346	65546356	+	Frame_Shift_Del	DEL	GCCAGCAAAGA	GCCAGCAAAGA	-													ctttgccagcatttgcaggtGccagcaaagagcttcatccc					rs370753088|rs576189594	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:65546346_65546356delGCCAGCAAAGA	ENST00000532090.2	-	2	1818_1828	c.1608_1618delTCTTTGCTGGC	c.(1606-1620)gctctttgctggcacfs	p.LCWH537fs		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	537					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						ATTTGCAGGTGCCAGCAAAGAGCTTCATCCC	0.597																																						ENST00000532090.2																			0				lung(1)	1						c.(1606-1620)gcacfs		adaptor-related protein complex 5, beta 1 subunit																																				SO:0001589	frameshift_variant	91056						protein binding	g.chr11:65546346_65546356delGCCAGCAAAGA	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1608_1618delTCTTTGCTGGC	11.37:g.65546346_65546356delGCCAGCAAAGA	ENSP00000454303:p.Leu537fs						p.ALCWH536fs	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1818_1828	-			479					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Frame_Shift_Del	DEL	ENST00000532090.2	37	c.1608_1618delTCTTTGCTGGC	CCDS58146.1																																																																																				0.597	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		10	139						10	139	---	---	---	---	-	65546356	GCCAGCAAAGA	-	65546346	7	5	58	1	0	1	0	1	0	0	0	0	4559	1319	46	0	1022	0	DKFZp761E198	11	65546346	Frame_Shift_Del	DEL	GCCAGCAAAGA	TCGA-FZ-5920-01A-11D-1609-08	9673158	65546346	69460170	64	7054											
ACTN3	8722	broad.mit.edu	37	chr11	66330622	66330622	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggagccctggactaCgtggccttctccagtgccct	12	16	1	0	rs79516407	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:66330622C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCTGGACTACGTGGCCTTCT	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		16750	0.0069		0.0	False		,,,				2504	0.0					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							41	45	44					11																	66330622		1958	4135	6093	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330622C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330622C>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2761	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.632	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		58	298	0	0	0	1	0	58	298					T	66330622	C	T	66330622	1	4	58	0	1	0	0	0	0	0	0	0	206	547	19	1		1	ACTN3	11	66330622	IGR	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	784276	66330622	68675894	65	7055											
UVRAG	7405	broad.mit.edu	37	chr11	75694431	75694431	+	Splice_Site	DEL	A	A	-													ctgtgattttatttatttagAaaaaaaaaagtgaatgcctg					rs369320979		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:75694431delA	ENST00000356136.3	+	8	941	c.700delA	c.(700-702)aaa>aa	p.K236fs	UVRAG_ENST00000528420.1_Splice_Site_p.K135fs|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	236					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATTTATTTAGAAAAAAAAAAG	0.303																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated				54,85,4123		1,0,52,3,79,1996	23	27	26			5.6	1	11		25	73,129,8046		0,0,73,4,121,3926	no	codingComplex-near-splice	UVRAG	NM_003369.3		1,0,125,7,200,5922	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4491,3.2614,2.7258			75694431	127,214,12169	2199	4293	6492	SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694431delA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1A>-	11.37:g.75694431delA						UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135_splice|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR	p.K236_splice	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	941	+			236					B3KTC1|O00392	Splice_Site	DEL	ENST00000356136.3	37	c.699_splice	CCDS8241.1																																																																																				0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Frame_Shift_Del	7	198						7	198	---	---	---	---	-	75694431	A	-	75694431	8	5	58	1	0	1	0	1	0	0	1	0	17162	260	9	0	730	0	UVRAG	11	75694431	Splice_Site	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	9363809	75694431	59312085	66	7056											
DCUN1D5	84259	broad.mit.edu	37	chr11	102933112	102933112	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtctgacggactttttgCcactcaacaaattcatcaag	7	10	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:102933112C>T	ENST00000260247.5	-	8	1032	c.690G>A	c.(688-690)tgG>tgA	p.W230*	DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	230	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		GGACTTTTTGCCACTCAACAA	0.368																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(688-690)tgG>tgA		DCN1, defective in cullin neddylation 1, domain containing 5							158	154	155					11																	102933112		2202	4299	6501	SO:0001587	stop_gained	84259							g.chr11:102933112C>T		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.690G>A	11.37:g.102933112C>T	ENSP00000260247:p.Trp230*					DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	p.W230*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	8	1032	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	230			DCUN1.		Q3ZTT2	Nonsense_Mutation	SNP	ENST00000260247.5	37	c.690G>A	CCDS8325.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711550	0.89112	.	.	ENSG00000137692	ENST00000527260;ENST00000260247;ENST00000531543	.	.	.	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4437	14.3027	0.66364	0.0:0.9283:0.0:0.0717	.	.	.	.	X	167;230;145	.	ENSP00000260247:W230X	W	-	3	0	DCUN1D5	102438322	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.671000	0.74472	1.406000	0.46857	0.650000	0.86243	TGG		0.368	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		6	524	0	0	0	1	0	6	524					T	102933112	C	T	102933112	4	4	58	1	0	0	0	0	0	1	0	0	4328	740	26	2	27	2	DCUN1D5	11	102933112	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27238681	102933112	32073404	67	7057											
HSPA8	3312	broad.mit.edu	37	chr11	122931494	122931494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaaatctgcgtccaatcAgacgtttggcatctgtaaaa	7	10	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:122931494A>G	ENST00000532636.1	-	3	337	c.218T>C	c.(217-219)cTg>cCg	p.L73P	HSPA8_ENST00000534624.1_Missense_Mutation_p.L73P|HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGTCCAATCAGACGTTTGGC	0.403																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(217-219)cTg>cCg		heat shock 70kDa protein 8							70	70	70					11																	122931494		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931494A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.218T>C	11.37:g.122931494A>G	ENSP00000437125:p.Leu73Pro					HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|HSPA8_ENST00000532636.1_Missense_Mutation_p.L73P|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P	p.L73P	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	494	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	73					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.218T>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321983	0.81580	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000003	T	0.48960	0.1529	H	0.99979	5.18	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	T	0.75575	-0.3270	10	0.87932	D	0	-14.075	13.9969	0.64407	1.0:0.0:0.0:0.0	.	73;73;73;73	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	P	73;73;73;73;73;73;13;73;73;73;73;73;73	ENSP00000437125:L73P;ENSP00000437189:L73P;ENSP00000432083:L73P;ENSP00000404372:L73P;ENSP00000227378:L73P;ENSP00000433584:L73P;ENSP00000432884:L13P;ENSP00000435154:L73P;ENSP00000431641:L73P;ENSP00000436183:L73P;ENSP00000434415:L73P;ENSP00000434565:L73P;ENSP00000434851:L73P	ENSP00000227378:L73P	L	-	2	0	HSPA8	122436704	1.000000	0.71417	0.975000	0.42487	0.970000	0.65996	9.337000	0.96545	1.752000	0.51891	0.402000	0.26972	CTG		0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			85	315	0	0	0	1	0	85	315					G	122931494	A	G	122931494	3	3	58	1	0	0	0	0	1	0	0	0	7446	188	7	4	1750	4	HSPA8	11	122931494	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	19998382	122931494	12075022	68	7058											
ZNF202	7753	broad.mit.edu	37	chr11	123597658	123597658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatatcctccaaactcagatCttcctgctccagacactctt	3	15	3	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:123597658C>G	ENST00000529691.1	-	7	1213	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000336139.4_Missense_Mutation_p.D332H			O95125	ZN202_HUMAN	zinc finger protein 202	332					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAACTCAGATCTTCCTGCTCC	0.468																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(994-996)Gat>Cat		zinc finger protein 202							133	157	149					11																	123597658		2189	4253	6442	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597658C>G	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.994G>C	11.37:g.123597658C>G	ENSP00000433881:p.Asp332His					ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D332H	p.D332H			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1356	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	332					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.994G>C	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380550	0.05000	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06142	3.34;3.34;3.34	3.05	1.11	0.20524	.	0.388682	0.18961	N	0.126414	T	0.03915	0.0110	N	0.22421	0.69	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	10	0.48119	T	0.1	-6.0238	4.3374	0.11092	0.0:0.6303:0.2357:0.1341	.	332	O95125	ZN202_HUMAN	H	332	ENSP00000337724:D332H;ENSP00000432504:D332H;ENSP00000433881:D332H	ENSP00000337724:D332H	D	-	1	0	ZNF202	123102868	0.000000	0.05858	0.456000	0.27044	0.378000	0.30076	0.100000	0.15231	0.316000	0.23135	-0.140000	0.14226	GAT		0.468	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		174	1483	0	0	0	1	0	174	1483					G	123597658	C	G	123597658	3	3	58	1	0	0	0	0	1	0	0	0	17816	913	32	5	956	5	ZNF202	11	123597658	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	666164	123597658	11408858	69	7059											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		52	116	0	0	0	1	0	52	116					T	25398284	C	T	25398284	3	4	58	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		25398284	108453611	70	7060											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		9	724						9	724	---	---	---	---	-	46318577	GGT	-	46318575	7	5	58	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-FZ-5920-01A-11D-1609-08	20920291	46318575	87533320	71	7061											
BIN2	51411	broad.mit.edu	37	chr12	51685907	51685907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcttcctcagaggagcttGcttcagatccttccttctct	6	14	4	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:51685907G>T	ENST00000267012.4	-	10	1044	c.983C>A	c.(982-984)gCa>gAa	p.A328E	BIN2_ENST00000544402.1_Missense_Mutation_p.A302E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000452142.2_Missense_Mutation_p.A296E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	328					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAGGAGCTTGCTTCAGATCC	0.547																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(982-984)gCa>gAa		bridging integrator 2							64	59	60					12																	51685907		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51685907G>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.983C>A	12.37:g.51685907G>T	ENSP00000267012:p.Ala328Glu					BIN2_ENST00000452142.2_Missense_Mutation_p.A296E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000544402.1_Missense_Mutation_p.A302E	p.A328E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			10	1044	-			328					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.983C>A	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279708	0.10458	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96745	-4.11;-0.09;-0.08	4.42	1.53	0.23141	.	1.455810	0.04136	N	0.318766	D	0.92694	0.7678	N	0.24115	0.695	0.09310	N	1	P;D;P	0.53462	0.928;0.96;0.933	P;P;B	0.51229	0.572;0.663;0.368	D	0.84506	0.0619	10	0.02654	T	1	1.1589	4.5791	0.12250	0.1995:0.1821:0.6185:0.0	.	302;296;328	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	E	296;328;302	ENSP00000410217:A296E;ENSP00000267012:A328E;ENSP00000445874:A302E	ENSP00000267012:A328E	A	-	2	0	BIN2	49972174	0.000000	0.05858	0.004000	0.12327	0.212000	0.24457	0.516000	0.22817	0.357000	0.24183	0.655000	0.94253	GCA		0.547	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			34	441	1	0	9.65021e-13	1	1.0355e-12	34	441					T	51685907	G	T	51685907	3	4	58	1	0	0	0	0	1	0	0	0	1435	1319	46	3	730	3	BIN2	12	51685907	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	5367332	51685907	82165988	72	7062											
ESPL1	9700	broad.mit.edu	37	chr12	53683280	53683280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgtccccctggcccGcatccagcgcctcttttcct	9	17	1	1	rs200673617		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:53683280G>A	ENST00000257934.4	+	22	5106	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1672					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)			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						CCCCTGGCCCGCATCCAGCGC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.001	False		,,,				2504	0.0				Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(5014-5016)cGc>cAc		extra spindle pole bodies homolog 1 (S. cerevisiae)							55	56	56					12																	53683280		2203	4300	6503	SO:0001583	missense	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.chr12:53683280G>A	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.5015G>A	12.37:g.53683280G>A	ENSP00000257934:p.Arg1672His					ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			22	5106	+			1672						Missense_Mutation	SNP	ENST00000257934.4	37	c.5015G>A	CCDS8852.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.87	2.959273	0.53400	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12569	2.67;2.67	5.26	4.27	0.50696	.	0.326875	0.34110	N	0.004252	T	0.08758	0.0217	N	0.17082	0.46	0.31480	N	0.66728	B	0.17465	0.022	B	0.10450	0.005	T	0.04551	-1.0943	10	0.52906	T	0.07	.	9.3148	0.37928	0.1058:0.0:0.8942:0.0	.	1672	Q14674	ESPL1_HUMAN	H	1672;1347;1672	ENSP00000257934:R1672H;ENSP00000449831:R1672H	ENSP00000257934:R1672H	R	+	2	0	ESPL1	51969547	0.077000	0.21312	1.000000	0.80357	0.976000	0.68499	0.633000	0.24598	1.289000	0.44618	0.563000	0.77884	CGC		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	535	0	0	0	1	0	7	535					A	53683280	G	A	53683280	3	1	58	1	0	0	0	0	1	0	0	0	5271	1087	38	1	5097	1	ESPL1	12	53683280	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	1997373	53683280	80168615	73	7063											
HOXC11	3227	broad.mit.edu	37	chr12	54367353	54367353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcctgcctccttccaccGtcaccgagatcctcatgaaa	7	16	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:54367353G>A	ENST00000546378.1	+	1	444	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	110					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|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)			large_intestine(1)|ovary(1)	2						TCCTTCCACCGTCACCGAGAT	0.642			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(328-330)Gtc>Atc		homeobox C11							100	116	110					12																	54367353		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367353G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.328G>A	12.37:g.54367353G>A	ENSP00000446680:p.Val110Ile					HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000424518.1_RNA	p.V110I			O43248	HXC11_HUMAN			1	444	+			110					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.328G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489782	0.26686	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42513	0.97;0.97	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.044361	0.85682	D	0.000000	T	0.22704	0.0548	N	0.19112	0.55	0.35685	D	0.814374	B	0.32829	0.386	B	0.29598	0.104	T	0.21143	-1.0254	10	0.27082	T	0.32	.	6.6818	0.23125	0.1962:0.0:0.8038:0.0	.	110	O43248	HXC11_HUMAN	I	110	ENSP00000446680:V110I;ENSP00000243082:V110I	ENSP00000243082:V110I	V	+	1	0	HOXC11	52653620	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	4.899000	0.63245	2.386000	0.81285	0.555000	0.69702	GTC		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			327	1247	0	0	0	1	0	327	1247					A	54367353	G	A	54367353	3	1	58	1	0	0	0	0	1	0	0	0	7340	1145	40	1	330	1	HOXC11	12	54367353	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	684073	54367353	79484542	74	7064											
NUAK1	9891	broad.mit.edu	37	chr12	106532400	106532400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccaagtcggggcggTcccccgccacaggcgcggcg	15	19	0	0	rs201298691		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:106532400T>C	ENST00000261402.2	-	1	1411	c.32A>G	c.(31-33)gAc>gGc	p.D11G		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	11					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCGGGGCGGTCCCCCGCCAC	0.771																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(31-33)gAc>gGc		NUAK family, SNF1-like kinase, 1							4	5	5					12																	106532400		2004	3866	5870	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106532400T>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.32A>G	12.37:g.106532400T>C	ENSP00000261402:p.Asp11Gly						p.D11G	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			1	1411	-			11					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.32A>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	T	5.712	0.315837	0.10789	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.72942	-0.7	2.76	1.52	0.23074	.	0.497641	0.16531	U	0.210347	T	0.44456	0.1294	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.31024	-0.9958	10	0.49607	T	0.09	.	4.6048	0.12372	0.0:0.1699:0.0:0.8301	.	11	O60285	NUAK1_HUMAN	G	11	ENSP00000261402:D11G	ENSP00000261402:D11G	D	-	2	0	NUAK1	105056530	0.000000	0.05858	0.774000	0.31636	0.236000	0.25371	-0.289000	0.08365	1.154000	0.42482	0.260000	0.18958	GAC		0.771	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		5	18	0	0	0	1	0	5	18					C	106532400	T	C	106532400	3	2	58	1	0	0	0	0	1	0	0	0	10754	1667	58	4	1981	4	NUAK1	12	106532400	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	52165047	106532400	27319495	75	7065											
KSR2	283455	broad.mit.edu	37	chr12	118105363	118105363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggagcggagggagcGctcggacagcagcggggagc	20	8	0	1	rs375751976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:118105363G>A	ENST00000339824.5	-	5	1814	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000425217.1_Missense_Mutation_p.R334C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGAGGGAGCGCTCGGACAGC	0.592																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1000-1002)Cgc>Tgc		kinase suppressor of ras 2							49	54	52					12																	118105363		2046	4180	6226	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118105363G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1087C>T	12.37:g.118105363G>A	ENSP00000339952:p.Arg363Cys					KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R363C	p.R334C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			5	1054	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		363					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.975356	0.74360	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.53423	0.62;0.62;0.62	4.77	3.8	0.43715	.	0.076645	0.53938	D	0.000048	T	0.41511	0.1162	L	0.34521	1.04	0.52501	D	0.99995	D	0.69078	0.997	P	0.47603	0.551	T	0.26087	-1.0113	10	0.37606	T	0.19	.	12.9567	0.58432	0.0:0.0:0.8375:0.1625	.	363	Q6VAB6	KSR2_HUMAN	C	334;363;60;35	ENSP00000389715:R334C;ENSP00000339952:R363C;ENSP00000305466:R60C	ENSP00000305466:R60C	R	-	1	0	KSR2	116589746	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.450000	0.80656	2.356000	0.79943	0.462000	0.41574	CGC		0.592	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		25	70	0	0	0	1	0	25	70					A	118105363	G	A	118105363	3	1	58	1	0	0	0	0	1	0	0	0	8613	1087	38	1	1829	1	KSR2	12	118105363	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	11572963	118105363	15746532	76	7066											
GCN1L1	10985	broad.mit.edu	37	chr12	120589168	120589168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctggcacaaggggtgGcaagcagctggctacggact	17	9	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:120589168G>A	ENST00000300648.6	-	34	4102	c.4090C>T	c.(4090-4092)Cca>Tca	p.P1364S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1364					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGGGGTGGCAAGCAGCTG	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4090-4092)Cca>Tca		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							26	29	28					12																	120589168		2121	4249	6370	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120589168G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4090C>T	12.37:g.120589168G>A	ENSP00000300648:p.Pro1364Ser						p.P1364S	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			34	4102	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1364					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4090C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169822	0.57584	.	.	ENSG00000089154	ENST00000300648	T	0.62788	-0.0	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.62209	1.925	0.80722	D	1	D	0.55800	0.973	P	0.51945	0.685	T	0.73579	-0.3938	10	0.54805	T	0.06	-24.285	19.1478	0.93475	0.0:0.0:1.0:0.0	.	1364	Q92616	GCN1L_HUMAN	S	1364	ENSP00000300648:P1364S	ENSP00000300648:P1364S	P	-	1	0	GCN1L1	119073551	1.000000	0.71417	0.994000	0.49952	0.663000	0.39108	7.518000	0.81795	2.548000	0.85928	0.561000	0.74099	CCA		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	225	0	0	0	1	0	4	225					A	120589168	G	A	120589168	3	1	58	1	0	0	0	0	1	0	0	0	6327	1203	42	2	4025	2	GCN1L1	12	120589168	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2483805	120589168	13262727	77	7067											
KLF12	11278	broad.mit.edu	37	chr13	74420080	74420080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtaccaccacggggatgCggtgaacatgactcagtttg	12	10	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:74420080C>T	ENST00000377669.2	-	3	580	c.554G>A	c.(553-555)cGc>cAc	p.R185H	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.R185H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	185					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CACGGGGATGCGGTGAACATG	0.502																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(553-555)cGc>cAc		Kruppel-like factor 12							115	96	102					13																	74420080		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420080C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.554G>A	13.37:g.74420080C>T	ENSP00000366897:p.Arg185His					KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.R185H	p.R185H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	580	-		Prostate(6;0.00217)|Breast(118;0.0838)	185					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.554G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422541	0.62622	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.41758	0.99;0.99	6.02	6.02	0.97574	.	0.045465	0.85682	D	0.000000	T	0.56485	0.1988	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.38067	-0.9678	10	0.22109	T	0.4	.	19.1188	0.93353	0.0:1.0:0.0:0.0	.	185	Q9Y4X4	KLF12_HUMAN	H	185	ENSP00000366897:R185H;ENSP00000366894:R185H	ENSP00000344057:R185H	R	-	2	0	KLF12	73318081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	2.865000	0.98341	0.655000	0.94253	CGC		0.502	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		5	388	0	0	0	1	0	5	388					T	74420080	C	T	74420080	3	4	58	1	0	0	0	0	1	0	0	0	8370	768	27	1	674	1	KLF12	13	74420080	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		74420080	40749798	78	7068											
NID2	22795	broad.mit.edu	37	chr14	52495453	52495453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacagatgcaagtatgCcggtcatctgcaaactcata	7	11	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:52495453C>T	ENST00000216286.5	-	11	2516	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	NID2_ENST00000541773.1_Silent_p.R786R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	839	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCAAGTATGCCGGTCATCTG	0.453																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2515-2517)cgG>cgA		nidogen 2 (osteonidogen)							93	87	89					14																	52495453		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52495453C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2517G>A	14.37:g.52495453C>T						NID2_ENST00000541773.1_Silent_p.R786R	p.R839R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			11	2516	-	Breast(41;0.0639)|all_epithelial(31;0.123)		839			EGF-like 3; calcium-binding (Potential).		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.2517G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	4.761	0.141516	0.09083	.	.	ENSG00000087303	ENST00000556572	.	.	.	5.94	0.438	0.16560	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.21473	N	0.999672	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	.	6.4789	0.22051	0.0:0.5716:0.1166:0.3118	.	.	.	.	T	156	.	.	A	-	1	0	NID2	51565203	0.034000	0.19679	0.053000	0.19242	0.679000	0.39708	0.210000	0.17455	0.026000	0.15269	-0.251000	0.11542	GCA		0.453	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			5	349	0	0	0	1	0	5	349					T	52495453	C	T	52495453	2	4	58	1	0	0	0	0	0	0	0	1	10457	726	26	2		2	NID2	14	52495453	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		52495453	54854087	79	7069											
C15orf2	23742	broad.mit.edu	37	chr15	24924064	24924064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaacccctatggatgGtgggagcattgggttcagca	14	9	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:24924064G>A	ENST00000329468.2	+	1	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1017					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTATGGATGGTGGGAGCATT	0.537																																						ENST00000329468.2																			0											c.(3049-3051)gGt>gAt		nuclear pore associated protein 1							61	57	59					15																	24924064		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924064G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3050G>A	15.37:g.24924064G>A	ENSP00000333735:p.Gly1017Asp						p.G1017D	NM_018958.2	NP_061831.2					1	3524	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3050G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.060752	0.36373	.	.	ENSG00000185823	ENST00000329468	T	0.06528	3.29	2.04	1.02	0.19986	.	2.011160	0.02104	N	0.054202	T	0.13200	0.0320	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	D	0.63703	0.917	T	0.31308	-0.9948	10	0.22109	T	0.4	.	6.1507	0.20310	0.0:0.3225:0.6775:0.0	.	1017	Q9NZP6	CO002_HUMAN	D	1017	ENSP00000333735:G1017D	ENSP00000333735:G1017D	G	+	2	0	C15orf2	22475157	0.020000	0.18652	0.001000	0.08648	0.307000	0.27823	0.128000	0.15810	0.357000	0.24183	0.313000	0.20887	GGT		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		31	292	0	0	0	1	0	31	292					A	24924064	G	A	24924064	3	1	58	1	0	0	0	0	1	0	0	0	1789	1261	44	2	3052	2	C15orf2	15	24924064	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		24924064	77607328	80	7070											
HERC2	8924	broad.mit.edu	37	chr15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC													agagctacacagcggaggcaINStacagggcgtagccagacgg							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)atgfs	p.M408fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAGCGGAGGCATACAGGGCGTA	0.515																																						ENST00000261609.7																			0				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						c.(1222-1224)gccfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_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.chr15:28515875_28515876insTC	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.1222_1223insGA	15.37:g.28515875_28515876insTC	ENSP00000261609:p.Met408fs						p.A408fs	NM_004667.5	NP_004658.3	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)	10	1330_1331	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	408						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1222_1223insGA	CCDS10021.1																																																																																				0.515	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		16	438						16	438	---	---	---	---	TC	28515876	-	TC	28515875	7	5	58	1	0	1	1	0	0	0	0	0	7088	217	8	0	13617	0	HERC2	15	28515875	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08	3591811	28515875	74015517	81	7071											
APBA2	321	broad.mit.edu	37	chr15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccagctgggcttcagcGtgcagaatggaattgtgagt	14	7	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V675M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.V675M(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(2023-2025)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family A, member 2							163	147	153					15																	29400578		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29400578G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2023G>A	15.37:g.29400578G>A	ENSP00000453293:p.Val675Met					APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M	p.V675M			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	14	2622	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	675			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2023G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067196	0.76301	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.34072	1.38	4.27	4.27	0.50696	PDZ/DHR/GLGF (4);	0.151772	0.41500	D	0.000866	T	0.62913	0.2467	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.939;0.914;0.985	T	0.70472	-0.4862	10	0.87932	D	0	.	16.2145	0.82195	0.0:0.0:1.0:0.0	.	663;663;675	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	663;675	ENSP00000409312:V663M	ENSP00000219865:V675M	V	+	1	0	APBA2	27187870	1.000000	0.71417	0.995000	0.50966	0.659000	0.38960	9.340000	0.97038	2.356000	0.79943	0.655000	0.94253	GTG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		113	448	0	0	0	1	0	113	448					A	29400578	G	A	29400578	3	1	58	1	0	0	0	0	1	0	0	0	757	1145	40	1	2061	1	APBA2	15	29400578	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	884703	29400578	73130814	82	7072											
KIF23	9493	broad.mit.edu	37	chr15	69715496	69715496	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacttttctttttttAgacgacaagtagatccagag	7	6	1	4			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:69715496A>T	ENST00000260363.4	+	7	680		c.e7-1		KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000558585.1_Splice_Site|KIF23_ENST00000537891.1_5'UTR	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCTTTTTTTAGACGACAAGT	0.383																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.e7-1		kinesin family member 23							62	71	68					15																	69715496		2199	4298	6497	SO:0001630	splice_region_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69715496A>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.564-1A>T	15.37:g.69715496A>T						KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000558585.1_Splice_Site		NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			7	680	+								Q8WVP0	Splice_Site	SNP	ENST00000260363.4	37		CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992553	0.35131	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2697	0.66145	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF23	67502550	1.000000	0.71417	0.913000	0.36048	0.321000	0.28281	9.161000	0.94739	2.104000	0.64026	0.460000	0.39030	.		0.383	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron	7	375	0	0	0	1	0	7	375					T	69715496	A	T	69715496	5	4	58	1	0	0	0	0	0	0	1	0	8321	434	15	5	588	5	KIF23	15	69715496	Splice_Site	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	40314918	69715496	32815896	83	7073											
IL27	246778	broad.mit.edu	37	chr16	28515269	28515269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgactgtgaactccCtccgcagctcctgcaggctc	11	16	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:28515269C>T	ENST00000356897.1	-	2	156	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGTGAACTCCCTCCGCAGCTC	0.642																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(133-135)aGg>aAg		interleukin 27							37	39	39					16																	28515269		2197	4299	6496	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515269C>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"Interleukins and interleukin receptors"	19157	protein-coding gene	gene with protein product		608273	"interleukin 30"	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.134G>A	16.37:g.28515269C>T	ENSP00000349365:p.Arg45Lys						p.R45K	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			2	156	-			45					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.134G>A	CCDS10633.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.468936	0.43839	.	.	ENSG00000197272	ENST00000356897	T	0.32023	1.47	4.37	-0.0235	0.13943	.	0.406946	0.21187	N	0.078701	T	0.22085	0.0532	L	0.50333	1.59	0.09310	N	0.999991	B	0.06786	0.001	B	0.10450	0.005	T	0.16012	-1.0417	10	0.49607	T	0.09	-1.419	3.9917	0.09539	0.0:0.514:0.1875:0.2985	.	45	Q8NEV9	IL27A_HUMAN	K	45	ENSP00000349365:R45K	ENSP00000349365:R45K	R	-	2	0	IL27	28422770	0.002000	0.14202	0.705000	0.30386	0.933000	0.57130	-0.282000	0.08445	0.278000	0.22164	0.549000	0.68633	AGG		0.642	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		85	298	0	0	0	1	0	85	298					T	28515269	C	T	28515269	3	4	58	1	0	0	0	0	1	0	0	0	7710	681	24	2	613	2	IL27	16	28515269	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		28515269	61839484	84	7074											
CETP	1071	broad.mit.edu	37	chr16	57003893	57003893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttccataagctgctcctGcatctccaaggggagcgaga	10	12	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57003893G>A	ENST00000566128.1	+	5	579	c.312G>A	c.(310-312)ctG>ctA	p.L104L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.L169L|CETP_ENST00000200676.3_Silent_p.L169L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCTGCTCCTGCATCTCCAAG	0.602																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(505-507)ctG>ctA		cholesteryl ester transfer protein, plasma							111	70	84					16																	57003893		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57003893G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.312G>A	16.37:g.57003893G>A						CETP_ENST00000566128.1_Silent_p.L104L|CETP_ENST00000379780.2_Silent_p.L169L|CETP_ENST00000569082.1_3'UTR	p.L169L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			5	637	+			169						Silent	SNP	ENST00000566128.1	37	c.507G>A																																																																																					0.602	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		4	166	0	0	0	1	0	4	166					A	57003893	G	A	57003893	2	1	58	1	0	0	0	0	0	0	0	1	3286	1306	46	2		2	CETP	16	57003893	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	28488624	57003893	33350860	85	7075											
GPR114	221188	broad.mit.edu	37	chr16	57601845	57601845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacatcgccttcctgcTgagccccgcattcgcaatgt	8	16	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57601845T>C	ENST00000340339.4	+	9	1422	c.899T>C	c.(898-900)cTg>cCg	p.L300P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	300					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCCTTCCTGCTGAGCCCCGCA	0.617																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(898-900)cTg>cCg		G protein-coupled receptor 114							99	77	84					16																	57601845		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601845T>C	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.899T>C	16.37:g.57601845T>C	ENSP00000342981:p.Leu300Pro					GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			9	1422	+			300					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.899T>C	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511275	0.44660	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.51071	0.72;0.72	4.22	4.22	0.49857	GPCR, family 2-like (1);	0.274664	0.19811	N	0.105533	T	0.69878	0.3160	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.85130	0.997;0.975	T	0.73544	-0.3949	10	0.87932	D	0	.	8.206	0.31456	0.0:0.0:0.2021:0.7979	.	300;300	B4E148;Q8IZF4	.;GP114_HUMAN	P	300	ENSP00000342981:L300P;ENSP00000290823:L300P	ENSP00000342981:L300P	L	+	2	0	GPR114	56159346	0.980000	0.34600	0.987000	0.45799	0.344000	0.29017	2.447000	0.44917	1.678000	0.50952	0.468000	0.43344	CTG		0.617	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		22	219	0	0	0	1	0	22	219					C	57601845	T	C	57601845	3	2	58	1	0	0	0	0	1	0	0	0	6660	1580	55	4	929	4	GPR114	16	57601845	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	597952	57601845	32752908	86	7076											
KIFC3	3801	broad.mit.edu	37	chr16	57829005	57829005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgggcgagctgcacttCgggcactggagtcctcgtca	16	12	1	0	rs369201056|rs147903082	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57829005C>T	ENST00000379655.4	-	3	478	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000566975.1_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	74					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGCTGCACTTCGGGCACTGGA	0.637																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(220-222)cGa>cAa		kinesin family member C3							43	48	46					16																	57829005		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57829005C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.221G>A	16.37:g.57829005C>T	ENSP00000368976:p.Arg74Gln					KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR	p.R74Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			3	478	-		all_neural(199;0.224)	74					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.221G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388000	0.82902	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000541240	T;T;T	0.77620	-1.11;-1.11;-1.11	6.02	3.91	0.45181	.	0.594661	0.16213	N	0.224391	T	0.58366	0.2117	N	0.14661	0.345	0.26776	N	0.969701	B;B	0.16166	0.016;0.016	B;B	0.06405	0.002;0.001	T	0.48502	-0.9030	10	0.41790	T	0.15	.	6.028	0.19665	0.0:0.7526:0.0:0.2474	.	96;74	B7Z484;Q9BVG8	.;KIFC3_HUMAN	Q	74;74;96	ENSP00000368976:R74Q;ENSP00000401696:R74Q;ENSP00000442008:R96Q	ENSP00000368976:R74Q	R	-	2	0	KIFC3	56386506	0.845000	0.29573	0.048000	0.18961	0.928000	0.56348	1.270000	0.33086	1.572000	0.49736	0.655000	0.94253	CGA		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		27	182	0	0	0	1	0	27	182					T	57829005	C	T	57829005	3	4	58	1	0	0	0	0	1	0	0	0	8344	884	31	1	2357	1	KIFC3	16	57829005	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	227160	57829005	32525748	87	7077											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	461						8	461	---	---	---	---	-	67913788	AGC	-	67913786	7	5	58	1	0	1	0	1	0	0	0	0	4924	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-FZ-5920-01A-11D-1609-08	10084781	67913786	22440967	88	7078											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	2407						7	2407	---	---	---	---	-	68718504	A	-	68718504	7	5	58	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	804718	68718504	21636249	89	7079											
TP53	7157	broad.mit.edu	37	chr17	7578464	7578476	+	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	GGGTGCCGGGCGG	-													gatggccatggcgcggacgcGggtgccgggcgggggtgtgg					rs137852790|rs137852791|rs137852793|rs563378859|rs587782705|rs137852789|rs72661116		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7578464_7578476delGGGTGCCGGGCGG	ENST00000269305.4	-	5	643_655	c.454_466delCCGCCCGGCACCC	c.(454-468)ccgcccggcacccgcfs	p.PPGTR152fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.PPGTR152fs	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(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)	GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA	0.606		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)	ENST00000420246.2		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"		433	Substitution - Missense(293)|Deletion - Frameshift(52)|Substitution - coding silent(29)|Insertion - Frameshift(23)|Deletion - In frame(16)|Whole gene deletion(8)|Insertion - In frame(7)|Unknown(5)	p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(1)	lung(79)|large_intestine(55)|oesophagus(38)|upper_aerodigestive_tract(36)|ovary(30)|central_nervous_system(27)|breast(25)|skin(23)|stomach(23)|urinary_tract(23)|haematopoietic_and_lymphoid_tissue(23)|prostate(12)|liver(12)|bone(7)|pancreas(5)|soft_tissue(3)|adrenal_gland(3)|vulva(2)|thyroid(2)|endometrium(1)|cervix(1)|eye(1)|genital_tract(1)|small_intestine(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	GRCh37	CD090894|CI920955|CM941327|CM942117|CM951223	TP53	D|I|M	rs137852789	c.(454-468)gcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578464_7578476delGGGTGCCGGGCGG	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.454_466delCCGCCCGGCACCC	17.37:g.7578464_7578476delGGGTGCCGGGCGG	ENSP00000269305:p.Pro152fs	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_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs	p.PPGTR152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	586_598	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.454_466delCCGCCCGGCACCC	CCDS11118.1																																																																																				0.606	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	351						50	351	---	---	---	---	-	7578476	GGGTGCCGGGCGG	-	7578464	7	5	58	1	0	1	0	1	0	0	0	0	16434	1116	39	0	832	0	TP53	17	7578464	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	TCGA-FZ-5920-01A-11D-1609-08		7578464	73616746	90	7080											
DNAH2	146754	broad.mit.edu	37	chr17	7707727	7707728	+	In_Frame_Ins	INS	-	-	GAG													ctgagttccagaagcagtgtINSgaggagtacctggtcatcat							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7707727_7707728insGAG	ENST00000572933.1	+	59	10586_10587	c.9126_9127insGAG	c.(9127-9129)gag>GAGgag	p.3043_3043E>EE	DNAH2_ENST00000389173.2_In_Frame_Ins_p.3043_3043E>EE			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3043	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCAGTGTGAGGAGTACCT	0.579																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9124-9129)tgagga>tgGAGagga		dynein, axonemal, heavy chain 2																																				SO:0001652	inframe_insertion	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7707727_7707728insGAG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9130_9132dupGAG	17.37:g.7707731_7707733dupGAG	ENSP00000458355:p.Glu3044dup					DNAH2_ENST00000389173.2_In_Frame_Ins_p.3042_3042*>WR	p.3042_3042*>WR			Q9P225	DYH2_HUMAN			59	10586_10587	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3042			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	In_Frame_Ins	INS	ENST00000572933.1	37	c.9126_9127insGAG	CCDS32551.1																																																																																				0.579	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		59	239						59	239	---	---	---	---	GAG	7707728	-	GAG	7707727	7	5	58	1	0	1	1	0	0	0	0	0	4618	1702	59	0	9356	0	DNAH2	17	7707727	In_Frame_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08	129263	7707727	73487483	91	7081											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	26	10	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(565-567)gAc>gCc		growth arrest-specific 2 like 2							20	26	24					17																	34077157		2188	4280	6468	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077157T>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala					GAS2L2_ENST00000587565.1_Intron	p.D189A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	593	-		Ovarian(249;0.17)	189					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.566A>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC		0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		31	375	0	0	0	1	0	31	375					G	34077157	T	G	34077157	3	3	58	1	0	0	0	0	1	0	0	0	6275	1667	58	4	2096	4	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	26369430	34077157	47118053	92	7082											
SPATA20	64847	broad.mit.edu	37	chr17	48631710	48631710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactggatggacaagtgtGtgtgcctattgaccgccttt	13	8	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:48631710G>A	ENST00000356488.4	+	14	2091	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	SPATA20_ENST00000006658.6_Missense_Mutation_p.V686M|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	670					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGACAAGTGTGTGTGCCTATT	0.632																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2056-2058)Gtg>Atg		spermatogenesis associated 20							147	108	121					17																	48631710		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631710G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2008G>A	17.37:g.48631710G>A	ENSP00000348878:p.Val670Met					SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M|SPATA20_ENST00000356488.4_Missense_Mutation_p.V670M	p.V686M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2176	+	Breast(11;1.23e-18)		670					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2056G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569296	0.45798	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.22336	1.96;1.96;1.97	5.25	5.25	0.73442	.	0.289778	0.31636	N	0.007305	T	0.19327	0.0464	N	0.20685	0.6	0.30024	N	0.814049	P;B	0.37101	0.582;0.014	B;B	0.39738	0.308;0.062	T	0.04796	-1.0926	10	0.46703	T	0.11	-18.4208	18.8839	0.92367	0.0:0.0:1.0:0.0	.	670;686	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	686;670;626	ENSP00000006658:V686M;ENSP00000348878:V670M;ENSP00000376935:V626M	ENSP00000006658:V686M	V	+	1	0	SPATA20	45986709	0.993000	0.37304	0.846000	0.33378	0.806000	0.45545	2.212000	0.42835	2.467000	0.83353	0.561000	0.74099	GTG		0.632	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		74	508	0	0	0	1	0	74	508					A	48631710	G	A	48631710	3	1	58	1	0	0	0	0	1	0	0	0	15058	1377	48	2	2114	2	SPATA20	17	48631710	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14554553	48631710	32563500	93	7083											
QRICH2	84074	broad.mit.edu	37	chr17	74288692	74288692	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtaccaaaccatgctgatCtgcaccaggttgcaccacat	7	13	1	1	rs140703547		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:74288692C>A	ENST00000262765.5	-	4	1797	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	540	Gln-rich.									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						CCATGCTGATCTGCACCAGGT	0.527																																						ENST00000262765.5																			0				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						c.(1618-1620)Gat>Tat		glutamine rich 2							202	160	174					17																	74288692		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288692C>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.1618G>T	17.37:g.74288692C>A	ENSP00000262765:p.Asp540Tyr						p.D540Y	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1797	-			540			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1618G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	c	6.193	0.403858	0.11754	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08634	3.07	5.22	-1.08	0.09936	.	.	.	.	.	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.46005	-0.9222	9	0.02654	T	1	3.2715	3.5686	0.07909	0.1213:0.491:0.2374:0.1503	.	540;540	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Y	540	ENSP00000262765:D540Y	ENSP00000262765:D540Y	D	-	1	0	QRICH2	71800287	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.188000	0.09642	-0.002000	0.14469	0.555000	0.69702	GAT		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		42	343	1	0	1.59361e-14	1	1.71966e-14	42	343					A	74288692	C	A	74288692	3	1	58	1	0	0	0	0	1	0	0	0	12930	913	32	3	3437	3	QRICH2	17	74288692	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25656982	74288692	6906518	94	7084											
CBX8	57332	broad.mit.edu	37	chr17	77769890	77769890	+	Frame_Shift_Del	DEL	T	T	-													ttttgggcttgggtccacgcTttttggggccatagagctcc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:77769890delT	ENST00000269385.4	-	4	329	c.212delA	c.(211-213)aagfs	p.K71fs	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	71					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTCCACGCTTTTTGGGGCC	0.512																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(211-213)agfs		chromobox homolog 8							188	191	190					17																	77769890		2203	4300	6503	SO:0001589	frameshift_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769890delT	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.212delA	17.37:g.77769890delT	ENSP00000269385:p.Lys71fs					CBX8_ENST00000485449.1_5'UTR	p.K71fs	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	329	-			71					Q96H39|Q9NR07	Frame_Shift_Del	DEL	ENST00000269385.4	37	c.212delA	CCDS11765.1																																																																																				0.512	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		7	1661						7	1661	---	---	---	---	-	77769890	T	-	77769890	7	5	58	1	0	1	0	1	0	0	0	0	2731	1606	56	0	940	0	CBX8	17	77769890	Frame_Shift_Del	DEL	T	TCGA-FZ-5920-01A-11D-1609-08	3481198	77769890	3425320	95	7085											
PLIN4	729359	broad.mit.edu	37	chr19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttactggtgtccacacCggtctgaatgcttcctctgg	10	12	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572																																						ENST00000301286.3																			2	Substitution - Missense(2)	p.G170S(1)|p.G242S(1)	lung(2)	NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(724-726)Ggt>Agt		perilipin 4							145	155	151					19																	4513206		2099	4221	6320	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513206C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.724G>A	19.37:g.4513206C>T	ENSP00000301286:p.Gly242Ser						p.G242S	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	723	-			242			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.724G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730100	0.69074	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	4.54	4.54	0.55810	.	0.116646	0.38548	N	0.001659	T	0.32852	0.0843	L	0.58428	1.81	0.18873	N	0.999986	D	0.76494	0.999	P	0.60173	0.87	T	0.07616	-1.0763	10	0.87932	D	0	-29.92	12.7755	0.57445	0.0:1.0:0.0:0.0	.	242	Q96Q06	PLIN4_HUMAN	S	242	ENSP00000301286:G242S	ENSP00000301286:G242S	G	-	1	0	PLIN4	4464206	0.000000	0.05858	0.068000	0.19968	0.023000	0.10783	0.243000	0.18106	2.076000	0.62316	0.511000	0.50034	GGT		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		30	1035	0	0	0	1	0	30	1035					T	4513206	C	T	4513206	3	4	58	1	0	0	0	0	1	0	0	0	12134	652	23	1	3365	1	PLIN4	19	4513206	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		4513206	54615777	96	7086											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaagacctgccccagccccGaggcctattccgtggagggg	14	15	0	1	rs146371166	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1996-1998)cGa>cAa		Rho/Rac guanine nucleotide exchange factor (GEF) 18							49	51	50					19																	7527146		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7527146G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1997G>A	19.37:g.7527146G>A	ENSP00000352995:p.Arg666Gln					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K	p.R666Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			11	2250	+		Renal(5;0.0902)	666					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1997G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781375	0.49891	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.34859	1.37;1.34	4.7	-2.21	0.06973	.	0.272643	0.24904	N	0.034666	T	0.31358	0.0794	M	0.78049	2.395	0.09310	N	1	P;D	0.53885	0.737;0.963	B;B	0.42062	0.285;0.374	T	0.36962	-0.9726	10	0.25751	T	0.34	-0.3464	7.2338	0.26057	0.3134:0.4932:0.1934:0.0	.	508;666	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	Q	508;666	ENSP00000319200:R508Q;ENSP00000352995:R666Q	ENSP00000319200:R508Q	R	+	2	0	ARHGEF18	7433146	0.000000	0.05858	0.002000	0.10522	0.831000	0.47069	0.707000	0.25704	-0.182000	0.10602	0.313000	0.20887	CGA		0.602	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		58	483	0	0	0	1	0	58	483					A	7527146	G	A	7527146	3	1	58	1	0	0	0	0	1	0	0	0	901	1058	37	1	2039	1	ARHGEF18	19	7527146	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	3013940	7527146	51601837	97	7087											
ZNF700	90592	broad.mit.edu	37	chr19	12059966	12059966	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcttttattctgccaagtCatttcaaacacatgaaaaaa	5	8	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12059966C>G	ENST00000254321.5	+	4	1270	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.S358*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTGCCAAGTCATTTCAAACA	0.343																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1072-1074)tCa>tGa		zinc finger protein 700							54	58	57					19																	12059966		2203	4300	6503	SO:0001587	stop_gained	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059966C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1127C>G	19.37:g.12059966C>G	ENSP00000254321:p.Ser376*					ZNF700_ENST00000254321.5_Nonsense_Mutation_p.S376*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.S358*			Q9H0M5	ZN700_HUMAN			3	1491	+			376					B9EGU4	Nonsense_Mutation	SNP	ENST00000254321.5	37	c.1073C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	17.49	3.403816	0.62288	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.672	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	5.4976	0.16811	0.3204:0.6795:0.0:0.0	.	.	.	.	X	376	.	ENSP00000254321:S376X	S	+	2	0	ZNF700	11920966	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-1.250000	0.02885	-0.270000	0.09285	0.305000	0.20034	TCA		0.343	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		107	320	0	0	0	1	0	107	320					G	12059966	C	G	12059966	4	3	58	1	0	0	0	0	0	1	0	0	18157	838	29	5	1141	5	ZNF700	19	12059966	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4532820	12059966	47069017	98	7088											
ZNF799	90576	broad.mit.edu	37	chr19	12502436	12502436	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtaatcagggaaggctttaGaacactgtttacattcatac	8	7	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12502436G>T	ENST00000430385.3	-	4	976	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S227Y	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTAGAACACTGTTT	0.378																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(679-681)tCt>tAt		zinc finger protein 799							93	101	98					19																	12502436		2203	4299	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502436G>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.776C>A	19.37:g.12502436G>T	ENSP00000411084:p.Ser259Tyr					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S259Y	p.S227Y			Q96GE5	ZN799_HUMAN			4	1429	-			259						Missense_Mutation	SNP	ENST00000430385.3	37	c.680C>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059898	0.36373	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.15952	2.38;2.38	1.31	-2.39	0.06602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20981	0.0505	M	0.70108	2.13	0.09310	N	1	P	0.41188	0.741	P	0.47603	0.551	T	0.25398	-1.0133	9	0.87932	D	0	.	0.6406	0.00810	0.2115:0.3001:0.3005:0.188	.	259	Q96GE5	ZN799_HUMAN	Y	227;259	ENSP00000415278:S227Y;ENSP00000411084:S259Y	ENSP00000415278:S227Y	S	-	2	0	ZNF799	12363436	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	-0.219000	0.09228	-0.442000	0.07190	0.430000	0.28490	TCT		0.378	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		70	748	1	0	7.62465e-47	1	8.32176e-47	70	748					T	12502436	G	T	12502436	3	4	58	1	0	0	0	0	1	0	0	0	18219	942	33	3	1159	3	ZNF799	19	12502436	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	442470	12502436	46626547	99	7089											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C													cggtctgggccccttaggggINScacgccgggccgccaagcca							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)gcafs	p.A898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.A732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCCTTAGGGGCACGCCGGGCC	0.693																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2692-2694)acgfs		zinc finger, SWIM-type containing 4																																				SO:0001589	frameshift_variant	65249						zinc ion binding	g.chr19:13941586_13941587insC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2693dupC	19.37:g.13941587_13941587dupC	ENSP00000254323:p.Ala898fs					ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	p.T898fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2881_2882	+			898						Frame_Shift_Ins	INS	ENST00000254323.2	37	c.2692_2693insC	CCDS32924.1																																																																																				0.693	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		13	615						13	615	---	---	---	---	C	13941587	-	C	13941586	7	5	58	1	0	1	1	0	0	0	0	0	18296	1203	42	0	2742	0	ZSWIM4	19	13941586	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08	1439150	13941586	45187397	100	7090											
CYP4F11	57834	broad.mit.edu	37	chr19	16024596	16024596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaagtccaccctctgcGcgcaatatcagctcgggttt	9	14	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:16024596G>A	ENST00000402119.4	-	12	1947	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Silent_p.R507R|CYP4F11_ENST00000591841.1_Silent_p.R182R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCCTCTGCGCGCAATATCA	0.612																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1519-1521)cgC>cgT		cytochrome P450, family 4, subfamily F, polypeptide 11							60	55	57					19																	16024596		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024596G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1521C>T	19.37:g.16024596G>A						CYP4F11_ENST00000248041.7_Silent_p.R507R|CYP4F11_ENST00000326742.7_3'UTR	p.R507R	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1947	-			507						Silent	SNP	ENST00000402119.4	37	c.1521C>T	CCDS12337.1																																																																																				0.612	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		23	211	0	0	0	1	0	23	211					A	16024596	G	A	16024596	2	1	58	1	0	0	0	0	0	0	0	1	4197	1074	38	1		1	CYP4F11	19	16024596	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2083010	16024596	43104387	101	7091											
ZNF536	9745	broad.mit.edu	37	chr19	30935498	30935498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgagcagtcggccaaCgagttccgctgcgaggtgtg	18	10	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:30935498C>T	ENST00000355537.3	+	2	1176	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	343					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)			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)					AGTCGGCCAACGAGTTCCGCT	0.647																																						ENST00000355537.3																			0				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						c.(1027-1029)aaC>aaT		zinc finger protein 536							89	100	97					19																	30935498		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935498C>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.1029C>T	19.37:g.30935498C>T							p.N343N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1176	+	Esophageal squamous(110;0.0834)		343					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1029C>T	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		124	1123	0	0	0	1	0	124	1123					T	30935498	C	T	30935498	2	4	58	1	0	0	0	0	0	0	0	1	18027	535	19	1		1	ZNF536	19	30935498	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	14910902	30935498	28193485	102	7092											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1778						10	1778	---	---	---	---	-	36255949	CTC	-	36255947	7	5	58	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-FZ-5920-01A-11D-1609-08	5320449	36255947	22873036	103	7093											
RYR1	6261	broad.mit.edu	37	chr19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccacaggcgagatgcGcgtgggctgggcgaggcccg	18	12	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38958370G>A	ENST00000359596.3	+	25	3299	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			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)	GGCGAGATGCGCGTGGGCTGG	0.627																																						ENST00000355481.4																			0				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						c.(3298-3300)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88	75	79					19																	38958370		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958370G>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.3299G>A	19.37:g.38958370G>A	ENSP00000352608:p.Arg1100His					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3430	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3299G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562473	0.65538	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71341	-0.56;-0.56;-0.56	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.87916	0.6298	H	0.95780	3.72	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91875	0.5511	10	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	H	1100	ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H	ENSP00000347667:R1100H	R	+	2	0	RYR1	43650210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.329000	0.96413	1.972000	0.57404	0.403000	0.27427	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			50	637	0	0	0	1	0	50	637					A	38958370	G	A	38958370	3	1	58	1	0	0	0	0	1	0	0	0	13818	1087	38	1	3397	1	RYR1	19	38958370	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2702423	38958370	20170613	104	7094											
CEACAM8	1088	broad.mit.edu	37	chr19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccctgccaggggatgCgccatctgcaggaaggggct	17	12	1	0	rs143763173		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106	97	100		35	-2.9	0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His					LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594624.2_RNA	p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			8	664	0	0	0	1	0	8	664					T	43098946	C	T	43098946	3	4	58	1	0	0	0	0	1	0	0	0	3207	768	27	1	1034	1	CEACAM8	19	43098946	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4140576	43098946	16030037	105	7095											
ZC3H4	23211	broad.mit.edu	37	chr19	47575243	47575243	+	Silent	SNP	T	T	A													ggcatgtctgcgtgcatgtcTgcgtgcatgtcagggtgcat					rs392366		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtctgcgtgcatgt	0.662																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1936-1938)gcA>gcT		zinc finger CCCH-type containing 4		C		1,4247		0,1,2123	31	36	34		1938	-10.4	0	19	dbSNP_80	34	6,8510		0,6,4252	no	coding-synonymous	ZC3H4	NM_015168.1		0,7,6375	AA,AT,TT		0.0705,0.0235,0.0548		646/1304	47575243	7,12757	2124	4258	6382	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47575243T>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1938A>T	19.37:g.47575243T>A						ZC3H4_ENST00000594019.1_Intron	p.A646A	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1975	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	646			Pro-rich.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1938A>T	CCDS42582.1																																																																																				0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			3	83	0	0	0	1	0	3	83					A	47575243	T	A	47575243	2	1	58	1	0	0	0	0	0	0	0	1	17623	1567	55	5		5	ZC3H4	19	47575243	Silent	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	4476297	47575243	11553740	106	7096	50	2									
ZC3H4	23211	broad.mit.edu	37	chr19	47575245	47575245	+	Missense_Mutation	SNP	C	C	G													catgtctgcgtgcatgtctgCgtgcatgtcagggtgcatgt					rs381976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575245C>G	ENST00000253048.5	-	13	1973	c.1936G>C	c.(1936-1938)Gca>Cca	p.A646P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		tgcatgtctgcgtgcatgtca	0.662																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1936-1938)Gca>Cca		zinc finger CCCH-type containing 4							31	35	34					19																	47575245		2118	4259	6377	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575245C>G	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1936G>C	19.37:g.47575245C>G	ENSP00000253048:p.Ala646Pro					ZC3H4_ENST00000594019.1_Intron	p.A646P	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1973	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	646			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1936G>C	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	1.939	-0.444005	0.04604	.	.	ENSG00000130749	ENST00000253048	T	0.17528	2.27	5.21	5.21	0.72293	.	0.405917	0.24076	N	0.041773	T	0.08044	0.0201	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.02654	T	1	.	13.2185	0.59873	0.0:0.1603:0.8397:0.0	rs381976;rs381976	646	Q9UPT8	ZC3H4_HUMAN	P	646	ENSP00000253048:A646P	ENSP00000253048:A646P	A	-	1	0	ZC3H4	52267085	1.000000	0.71417	0.916000	0.36221	0.011000	0.07611	4.019000	0.57181	1.200000	0.43188	-0.132000	0.14878	GCA		0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			4	76	0	0	0	1	0	4	76					G	47575245	C	G	47575245	3	3	58	1	0	0	0	0	1	0	0	0	17623	768	27	5	1987	5	ZC3H4	19	47575245	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	2	47575245	11553738	107	7097	50	2									
CDH22	64405	broad.mit.edu	37	chr20	44838993	44838993	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcccgcgccgtcaccacgccGaccagggagcccacctgcgc	11	21	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:44838993G>T	ENST00000372262.3	-	6	1639	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1237-1239)gtC>gtA		cadherin 22, type 2							2	3	3					20																	44838993		1641	3403	5044	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44838993G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1239C>A	20.37:g.44838993G>T						CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1639	-		Myeloproliferative disorder(115;0.0122)	413			Cadherin 4.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1239C>A	CCDS13395.1																																																																																				0.771	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		6	32	1	0	0.00116845	1	0.00119986	6	32					T	44838993	G	T	44838993	2	4	58	1	0	0	0	0	0	0	0	1	3116	1045	37	3		3	CDH22	20	44838993	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		44838993	18186527	108	7098											
SRMS	6725	broad.mit.edu	37	chr20	62172886	62172886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcccggtgcacaacgCgctgctcctccaggtagctc	10	17	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:62172886C>T	ENST00000217188.1	-	6	1074	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTGCACAACGCGCTGCTCCTC	0.706																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1033-1035)cGc>cAc		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							16	16	16					20																	62172886		2177	4284	6461	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172886C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1034G>A	20.37:g.62172886C>T	ENSP00000217188:p.Arg345His						p.R345H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		6	1074	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		345			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1034G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073526	0.20147	.	.	ENSG00000125508	ENST00000217188	T	0.11712	2.75	4.16	1.63	0.23807	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111999	0.39146	N	0.001459	T	0.06872	0.0175	N	0.26130	0.795	0.29588	N	0.848669	B	0.06786	0.001	B	0.06405	0.002	T	0.14254	-1.0479	10	0.59425	D	0.04	.	5.6526	0.17625	0.0:0.3106:0.0:0.6894	.	345	Q9H3Y6	SRMS_HUMAN	H	345	ENSP00000217188:R345H	ENSP00000217188:R345H	R	-	2	0	SRMS	61643330	0.905000	0.30787	0.012000	0.15200	0.005000	0.04900	0.591000	0.23969	0.308000	0.22923	0.561000	0.74099	CGC		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		12	71	0	0	0	1	0	12	71					T	62172886	C	T	62172886	3	4	58	1	0	0	0	0	1	0	0	0	15204	768	27	1	444	1	SRMS	20	62172886	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	17333893	62172886	852634	109	7099											
NCAM2	4685	broad.mit.edu	37	chr21	22658659	22658659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcagaagtggtttgCcgagttagcagttcacctgc	13	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:22658659C>T	ENST00000400546.1	+	4	657	c.408C>T	c.(406-408)tgC>tgT	p.C136C	NCAM2_ENST00000535285.1_Silent_p.C161C|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGTGGTTTGCCGAGTTAGCA	0.398																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(406-408)tgC>tgT		neural cell adhesion molecule 2							120	114	116					21																	22658659		2018	4191	6209	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658659C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.408C>T	21.37:g.22658659C>T						NCAM2_ENST00000535285.1_Silent_p.C161C|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	p.C136C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	657	+		Lung NSC(9;0.195)	136			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.408C>T	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		4	221	0	0	0	1	0	4	221					T	22658659	C	T	22658659	2	4	58	1	0	0	0	0	0	0	0	1	10245	747	26	2		2	NCAM2	21	22658659	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		22658659	25471236	110	7100											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692255	31692255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacatctccacagctcacGctggtagggcagaggtcgat	13	11	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:31692255G>A	ENST00000360542.3	-	1	352	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	33						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACAGCTCACGCTGGTAGGGC	0.552																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(97-99)agC>agT		keratin associated protein 26-1							91	90	90					21																	31692255		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692255G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.99C>T	21.37:g.31692255G>A							p.S33S	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	352	-			33					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.99C>T	CCDS13588.1																																																																																				0.552	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		64	412	0	0	0	1	0	64	412					A	31692255	G	A	31692255	2	1	58	1	0	0	0	0	0	0	0	1	8574	1078	38	1		1	KRTAP26-1	21	31692255	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	9033596	31692255	16437640	111	7101											
PI4KA	5297	broad.mit.edu	37	chr22	21064273	21064273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccagggagacgaccgcGtccatgtagggcctggggag	18	10	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:21064273G>A	ENST00000572273.1	-	53	6152	c.5922C>T	c.(5920-5922)gaC>gaT	p.D1974D	PI4KA_ENST00000255882.6_Silent_p.D2032D|PI4KA_ENST00000414196.3_Silent_p.D784D			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1974	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGACGACCGCGTCCATGTAGG	0.612																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(6094-6096)gaC>gaT		phosphatidylinositol 4-kinase, catalytic, alpha							98	79	86					22																	21064273		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064273G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5922C>T	22.37:g.21064273G>A						PI4KA_ENST00000414196.3_Silent_p.D784D|PI4KA_ENST00000572273.1_Silent_p.D1974D	p.D2032D	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		53	6182	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1974					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.6096C>T																																																																																					0.612	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		5	383	0	0	0	1	0	5	383					A	21064273	G	A	21064273	2	1	58	1	0	0	0	0	0	0	0	1	11915	1136	40	1		1	PI4KA	22	21064273	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		21064273	30240293	112	7102											
SUSD2	56241	broad.mit.edu	37	chr22	24583191	24583191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttcctgtcggtggctgCcggggacagggtctccatca	14	11	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24583191C>T	ENST00000358321.3	+	11	1925	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	555	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCGGTGGCTGCCGGGGACAGG	0.652																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1663-1665)gCc>gTc		sushi domain containing 2							74	69	71					22																	24583191		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583191C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1664C>T	22.37:g.24583191C>T	ENSP00000351075:p.Ala555Val						p.A555V	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	1925	+			555			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1664C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735908	0.15574	.	.	ENSG00000099994	ENST00000358321	T	0.20332	2.08	4.5	1.99	0.26369	von Willebrand factor, type D domain (3);	0.816161	0.11339	N	0.574287	T	0.18215	0.0437	L	0.39397	1.21	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.13899	-1.0492	10	0.41790	T	0.15	-2.6699	6.5498	0.22427	0.0:0.4452:0.4474:0.1074	.	555	Q9UGT4	SUSD2_HUMAN	V	555	ENSP00000351075:A555V	ENSP00000351075:A555V	A	+	2	0	SUSD2	22913191	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	0.215000	0.17562	0.992000	0.38840	0.449000	0.29647	GCC		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		5	273	0	0	0	1	0	5	273					T	24583191	C	T	24583191	3	4	58	1	0	0	0	0	1	0	0	0	15460	739	26	2	1706	2	SUSD2	22	24583191	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	3518918	24583191	26721375	113	7103											
MKL1	57591	broad.mit.edu	37	chr22	40813466	40813466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccatctgggcagaggggGcaggcgctggagagccaggc	20	10	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:40813466G>A	ENST00000355630.3	-	13	2686	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	RP5-1042K10.13_ENST00000609279.1_RNA|MKL1_ENST00000396617.3_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V|MKL1_ENST00000407029.1_Missense_Mutation_p.A699V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	699	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGAGGGGGCAGGCGCTGG	0.662			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2095-2097)gCc>gTc		megakaryoblastic leukemia (translocation) 1							13	14	14					22																	40813466		2202	4299	6501	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40813466G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2096C>T	22.37:g.40813466G>A	ENSP00000347847:p.Ala699Val					MKL1_ENST00000407029.1_Missense_Mutation_p.A699V|MKL1_ENST00000355630.3_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V	p.A699V			Q969V6	MKL1_HUMAN			13	2686	-			699			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2096C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011799	0.07912	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.44881	0.92;0.91;0.92;0.92	4.77	1.24	0.21308	.	0.930412	0.09097	N	0.849021	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.25047	-1.0143	10	0.20046	T	0.44	-13.9067	7.2519	0.26154	0.2811:0.334:0.3849:0.0	.	649;699;699	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	V	699;699;649;699	ENSP00000347847:A699V;ENSP00000379861:A699V;ENSP00000385584:A649V;ENSP00000385835:A699V	ENSP00000347847:A699V	A	-	2	0	MKL1	39143412	0.002000	0.14202	0.743000	0.31040	0.002000	0.02628	0.318000	0.19504	0.591000	0.29711	-0.165000	0.13383	GCC		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	45	0	0	0	1	0	3	45					A	40813466	G	A	40813466	3	1	58	1	0	0	0	0	1	0	0	0	9642	1203	42	2	711	2	MKL1	22	40813466	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	16230275	40813466	10491100	114	7104											
MXRA5	25878	broad.mit.edu	37	chrX	3240231	3240231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtggggtttgcttgtgCcggtggcggaatttgttggg	21	4	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:3240231C>T	ENST00000217939.6	-	5	3649	c.3495G>A	c.(3493-3495)cgG>cgA	p.R1165R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1165						extracellular vesicular exosome (GO:0070062)				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)				TTTGCTTGTGCCGGTGGCGGA	0.498																																						ENST00000217939.6																			0				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						c.(3493-3495)cgG>cgA		matrix-remodelling associated 5							124	126	125					X																	3240231		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240231C>T	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.3495G>A	X.37:g.3240231C>T							p.R1165R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3649	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1165					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3495G>A	CCDS14124.1																																																																																				0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	471	0	0	0	1	0	5	471					T	3240231	C	T	3240231	2	4	58	1	0	0	0	0	0	0	0	1	10044	726	26	2		2	MXRA5	23	3240231	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		3240231	152030329	115	7105											
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40	26	30					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	151	0	0	0	1	0	4	151					A	55172537	G	A	55172537	1	1	58	0	1	0	0	0	0	0	0	0	5407	1095	38	1		1	FAM104B	23	55172537	Intron	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	51932306	55172537	100098023	116	7106											
FAM104B	90736	broad.mit.edu	37	chrX	55185620	55185620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tattccttttgggctgggtgGaatgatggttgccctcttta	12	7	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55185620G>C	ENST00000358460.4	-	2	215	c.62C>G	c.(61-63)tCc>tGc	p.S21C	FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C|FAM104B_ENST00000425133.2_Missense_Mutation_p.S21C|FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000478918.1_5'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	21										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGGCTGGGTGGAATGATGGTT	0.383																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(61-63)tCc>tGc		family with sequence similarity 104, member B							159	124	136					X																	55185620		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55185620G>C	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.62C>G	X.37:g.55185620G>C	ENSP00000364101:p.Ser21Cys					FAM104B_ENST00000358460.4_Missense_Mutation_p.S21C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C|FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000478918.1_5'UTR	p.S21C	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			2	100	-			21					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.62C>G	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	5.431	0.264571	0.10294	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	2.47	0.585	0.17428	.	.	.	.	.	T	0.29223	0.0727	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20988	0.05;0.05;0.05	B;B;B	0.21360	0.015;0.034;0.034	T	0.26224	-1.0109	9	0.72032	D	0.01	-0.1127	3.1646	0.06531	0.1779:0.2802:0.5418:0.0	.	21;21;21	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	C	21;21;21;21;18;20	ENSP00000364101:S21C;ENSP00000333394:S21C;ENSP00000397188:S21C;ENSP00000420895:S21C;ENSP00000421161:S18C;ENSP00000423164:S20C	ENSP00000333394:S21C	S	-	2	0	FAM104B	55202345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.100000	0.10990	0.041000	0.15688	0.513000	0.50165	TCC		0.383	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	291	0	0	0	1	0	5	291					C	55185620	G	C	55185620	3	2	58	1	0	0	0	0	1	0	0	0	5407	1174	41	5	401	5	FAM104B	23	55185620	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	13083	55185620	100084940	117	7107											
NLGN3	54413	broad.mit.edu	37	chrX	70389238	70389238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggctgaaaccaagggtccGagatcattaccgggccacta	12	12	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:70389238G>A	ENST00000358741.3	+	8	2141	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	NLGN3_ENST00000374051.3_Missense_Mutation_p.R593Q|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAAGGGTCCGAGATCATTAC	0.522																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1777-1779)cGa>cAa		neuroligin 3							54	43	47					X																	70389238		2202	4298	6500	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389238G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1838G>A	X.37:g.70389238G>A	ENSP00000351591:p.Arg613Gln					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R613Q	p.R593Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2100	+	Renal(35;0.156)		613					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1778G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349596	0.82132	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.59224	0.28;0.28;0.28	4.96	4.96	0.65561	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.48218	1.51	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	P;D;P	0.63877	0.756;0.919;0.641	T	0.70299	-0.4910	10	0.51188	T	0.08	.	17.4934	0.87711	0.0:0.0:1.0:0.0	.	573;613;593	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	Q	573;593;613	ENSP00000445298:R573Q;ENSP00000363163:R593Q;ENSP00000351591:R613Q	ENSP00000351591:R613Q	R	+	2	0	NLGN3	70305963	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	7.816000	0.86201	2.315000	0.78130	0.431000	0.28591	CGA		0.522	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		17	48	0	0	0	1	0	17	48					A	70389238	G	A	70389238	3	1	58	1	0	0	0	0	1	0	0	0	10505	1058	37	1	1864	1	NLGN3	23	70389238	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	15203618	70389238	84881322	118	7108											
BEX4	56271	broad.mit.edu	37	chrX	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatgaggcactatatgCgcttccaaactcctgaacct	8	12	0	3	rs139178618	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418																																						ENST00000372695.5																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						c.(310-312)Cgc>Tgc		brain expressed, X-linked 4							198	170	179					X																	102471391		2203	4300	6503	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471391C>T	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"brain expressed X-linked-like 1", "BEX family member 4"	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.310C>T	X.37:g.102471391C>T	ENSP00000361780:p.Arg104Cys					BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN			3	545	+			104						Missense_Mutation	SNP	ENST00000372695.5	37	c.310C>T	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778944	0.49891	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49720	0.77;0.77	3.84	2.98	0.34508	.	0.159217	0.30277	N	0.009992	T	0.43344	0.1243	M	0.76170	2.325	0.09310	N	1	B	0.26195	0.144	B	0.21151	0.033	T	0.44907	-0.9297	10	0.59425	D	0.04	.	6.479	0.22053	0.0:0.8657:0.0:0.1343	.	104	Q9NWD9	BEX4_HUMAN	C	104	ENSP00000361780:R104C;ENSP00000361776:R104C	ENSP00000361776:R104C	R	+	1	0	BEX4	102358047	0.001000	0.12720	0.001000	0.08648	0.847000	0.48162	0.082000	0.14847	0.979000	0.38497	0.594000	0.82650	CGC		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		5	408	0	0	0	1	0	5	408					T	102471391	C	T	102471391	3	4	58	1	0	0	0	0	1	0	0	0	1414	768	27	1	312	1	BEX4	23	102471391	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	32082153	102471391	52799169	119	7109											
PTCHD2	57540	broad.mit.edu	37	chr1	11561569	11561569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctcccgagccccccgcGtcatccccgcggcctcactc	8	23	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:11561569G>A	ENST00000294484.6	+	2	658	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	174					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.V391I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCCCGCGTCATCCCCGC	0.682																																						ENST00000294484.6																			1	Substitution - Missense(1)	p.V391I(1)	endometrium(1)	NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(520-522)Gtc>Atc		patched domain containing 2							12	15	14					1																	11561569		1907	4110	6017	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561569G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.520G>A	1.37:g.11561569G>A	ENSP00000294484:p.Val174Ile					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	658	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	174					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.520G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571849	0.03882	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.42513	0.97;0.97	4.9	-7.89	0.01174	.	0.828788	0.10709	N	0.643079	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.10776	-1.0615	10	0.31617	T	0.26	0.6872	2.0702	0.03612	0.2878:0.092:0.1373:0.4829	.	174	Q9P2K9	PTHD2_HUMAN	I	174	ENSP00000294484:V174I;ENSP00000374226:V174I	ENSP00000294484:V174I	V	+	1	0	PTCHD2	11484156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.515000	0.06290	-2.087000	0.00862	-0.215000	0.12644	GTC		0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		11	126	0	0	0	1	0	11	126					A	11561569	G	A	11561569	3	1	59	1	0	0	0	0	1	0	0	0	12780	1145	40	1	522	1	PTCHD2	1	11561569	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		11561569	237689052	1	7110											
SYF2	25949	broad.mit.edu	37	chr1	25555531	25555531	+	Frame_Shift_Del	DEL	T	T	-													agttcccactccaaacgagcTtttttggcttcccaatttgc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:25555531delT	ENST00000236273.4	-	3	241	c.216delA	c.(214-216)aaafs	p.K72fs	SYF2_ENST00000476231.1_5'Flank|SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	72					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CCAAACGAGCTTTTTTGGCTT	0.348																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(214-216)aafs		SYF2 pre-mRNA-splicing factor							156	162	160					1																	25555531		2202	4300	6502	SO:0001589	frameshift_variant	25949					catalytic step 2 spliceosome		g.chr1:25555531delT	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 29"	607090	"CCNDBP1 interactor", "SYF2 homolog, RNA splicing factor (S. cerevisiae)"	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.216delA	1.37:g.25555531delT	ENSP00000236273:p.Lys72fs					SYF2_ENST00000354361.3_Intron	p.K72fs	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	3	241	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	72					Q5TH73	Frame_Shift_Del	DEL	ENST00000236273.4	37	c.216delA	CCDS259.1																																																																																				0.348	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		7	657						7	657	---	---	---	---	-	25555531	T	-	25555531	7	5	59	1	0	1	0	1	0	0	0	0	15489	1606	56	0	535	0	SYF2	1	25555531	Frame_Shift_Del	DEL	T	TCGA-FZ-5921-01A-11D-1609-08	13993962	25555531	223695090	2	7111											
WDR63	126820	broad.mit.edu	37	chr1	85561704	85561704	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgtatcaatgggcagGtacttaacagaatttttttc	10	6	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:85561704G>A	ENST00000294664.6	+	11	1443		c.e11+1		WDR63_ENST00000370596.1_Splice_Site|WDR63_ENST00000326813.8_Splice_Site	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAATGGGCAGGTACTTAACAG	0.388																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e11+1		WD repeat domain 63							129	123	125					1																	85561704		2203	4300	6503	SO:0001630	splice_region_variant	126820							g.chr1:85561704G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1263+1G>A	1.37:g.85561704G>A						WDR63_ENST00000370596.1_Splice_Site|WDR63_ENST00000326813.8_Splice_Site		NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	11	1443	+								A8K988|Q96L72|Q96NU4	Splice_Site	SNP	ENST00000294664.6	37		CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173447	0.78452	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2417	0.93887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR63	85334292	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.769000	0.91742	2.545000	0.85829	0.585000	0.79938	.		0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Intron	25	434	0	0	0	1	0	25	434					A	85561704	G	A	85561704	5	1	59	1	0	0	0	0	0	0	1	0	17368	1275	44	2	1302	2	WDR63	1	85561704	Splice_Site	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	60006173	85561704	163688917	3	7112											
NBPF10	100132406	broad.mit.edu	37	chr1	145367736	145367737	+	Frame_Shift_Ins	INS	-	-	A													ttgaaaagaaggggaaggggINSaaaaaaagaaggggaagaag							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:145367736_145367737insA	ENST00000342960.5	+	83	10367_10368	c.10332_10333insA	c.(10333-10335)aaafs	p.K3445fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaaggggaaaaaaagaag	0.416																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10330-10335)ggaaaafs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145367736_145367737insA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10339dupA	1.37:g.145367743_145367743dupA	ENSP00000345684:p.Lys3445fs					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.GK3444fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10367_10368	+	all_hematologic(923;0.032)		3444					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000342960.5	37	c.10332_10333insA	CCDS53355.1																																																																																				0.416	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	622						7	622	---	---	---	---	A	145367737	-	A	145367736	7	5	59	1	0	1	1	0	0	0	0	0	10234	1161	41	0	10662	0	NBPF10	1	145367736	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	59806032	145367736	103882885	4	7113											
PI4KB	5298	broad.mit.edu	37	chr1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-													tccaccagcagctgcagctgCtcctcagtcatgctcatgtg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:151265430_151265432delCTC	ENST00000368873.1	-	12	2515_2517	c.2347_2349delGAG	c.(2347-2349)gagdel	p.E783del	PI4KB_ENST00000368875.2_In_Frame_Del_p.E795del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					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)			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)			GCTGCAGCTGCTCCTCAGTCATG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2383-2385)del		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001651	inframe_deletion	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265430_151265432delCTC	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	ENST00000368873.1:c.2347_2349delGAG	1.37:g.151265433_151265435delCTC	ENSP00000357867:p.Glu783del					PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del	p.E795del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2963_2965	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		783					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	In_Frame_Del	DEL	ENST00000368873.1	37	c.2383_2385delGAG																																																																																					0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		62	381						62	381	---	---	---	---	-	151265432	CTC	-	151265430	7	5	59	1	0	1	0	1	0	0	0	0	11916	796	28	0	105	0	PI4KB	1	151265430	In_Frame_Del	DEL	CTC	TCGA-FZ-5921-01A-11D-1609-08	5897694	151265430	97985191	5	7114											
PYHIN1	149628	broad.mit.edu	37	chr1	158908939	158908939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaaagagcagactcggCcttcctgctctgcaggagcc	11	14	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:158908939C>T	ENST00000368140.1	+	4	726	c.481C>T	c.(481-483)Cct>Tct	p.P161S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	161					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGACTCGGCCTTCCTGCTC	0.483																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(481-483)Cct>Tct		pyrin and HIN domain family, member 1							112	102	105					1																	158908939		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908939C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.481C>T	1.37:g.158908939C>T	ENSP00000357122:p.Pro161Ser					PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S	p.P161S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			4	726	+	all_hematologic(112;0.0378)		161					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.481C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943813	0.18281	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T	0.28069	3.52;3.53;3.54;3.55;1.63	2.15	-2.19	0.07015	.	.	.	.	.	T	0.28499	0.0705	L	0.61387	1.9	0.09310	N	1	P;P;P;P;D	0.67145	0.909;0.909;0.909;0.853;0.996	P;P;P;B;D	0.78314	0.481;0.481;0.481;0.288;0.991	T	0.09952	-1.0651	8	.	.	.	.	6.3202	0.21213	0.0:0.3823:0.0:0.6177	.	152;161;152;161;161	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	161;152;161;152;161	ENSP00000357122:P161S;ENSP00000357120:P152S;ENSP00000376083:P161S;ENSP00000376082:P152S;ENSP00000357117:P161S	.	P	+	1	0	PYHIN1	157175563	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.463000	0.06696	-0.637000	0.05516	-0.262000	0.10625	CCT		0.483	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		45	273	0	0	0	1	0	45	273					T	158908939	C	T	158908939	3	4	59	1	0	0	0	0	1	0	0	0	12915	739	26	2	491	2	PYHIN1	1	158908939	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	7643509	158908939	90341682	6	7115											
CADM3	57863	broad.mit.edu	37	chr1	159169659	159169659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccactacttgatccgGcacaaaggtcagaggcacaa	10	12	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:159169659G>A	ENST00000368125.4	+	8	1228	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.R391R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	357					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.R391R(2)		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)					ACTTGATCCGGCACAAAGGTC	0.562																																						ENST00000368125.4																			2	Substitution - coding silent(2)	p.R391R(2)	endometrium(1)|central_nervous_system(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						c.(1069-1071)cgG>cgA		cell adhesion molecule 3							95	75	82					1																	159169659		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169659G>A	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.1071G>A	1.37:g.159169659G>A						CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.R391R|CTA-134P22.2_ENST00000415675.2_RNA	p.R357R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			8	1228	+	all_hematologic(112;0.0429)		357					Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1071G>A	CCDS44251.1																																																																																				0.562	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		5	180	0	0	0	1	0	5	180					A	159169659	G	A	159169659	2	1	59	1	0	0	0	0	0	0	0	1	2575	1190	42	2		2	CADM3	1	159169659	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	260720	159169659	90080962	7	7116											
SELP	6403	broad.mit.edu	37	chr1	169586589	169586589	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatttacgggaaatattcCatgagtatgcttttgtgctg	10	5	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:169586589C>T	ENST00000263686.6	-	3	195	c.158G>A	c.(157-159)tGg>tAg	p.W53*	SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	53					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGAAATATTCCATGAGTATGC	0.413																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(157-159)tGg>tAg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133	117	123					1																	169586589		2203	4299	6502	SO:0001587	stop_gained	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586589C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.158G>A	1.37:g.169586589C>T	ENSP00000263686:p.Trp53*					SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*	p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			3	195	-	all_hematologic(923;0.208)		53					Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	c.158G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.009615|5.009615	0.93346|0.93346	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.48286	.|D	.|0.000187	T|.	0.29882|.	0.0747|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20773|.	-1.0265|.	3|.	.|0.02654	.|T	.|1	-17.8413|-17.8413	17.7661|17.7661	0.88478|0.88478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	I|X	52|53;53;52;53;53;53;53;53;53;53;53;53;38	.|.	.|ENSP00000263686:W53X	M|W	-|-	3|2	0|0	SELP|SELP	167853213|167853213	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.353000|0.353000	0.29299|0.29299	5.616000|5.616000	0.67709|0.67709	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	ATG|TGG		0.413	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		48	615	0	0	0	1	0	48	615					T	169586589	C	T	169586589	4	4	59	1	0	0	0	0	0	1	0	0	14069	595	21	2	2390	2	SELP	1	169586589	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	10416930	169586589	79664032	8	7117											
OR2L2	26246	broad.mit.edu	37	chr1	248201829	248201829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttatgattttctgtatgGaaacaagtctatctccttca	7	7	4	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:248201829G>A	ENST00000366479.2	+	1	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			tttctgtatggaaacaagtct	0.418																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(259-261)gGa>gAa		olfactory receptor, family 2, subfamily L, member 2							194	178	184					1																	248201829		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201829G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.260G>A	1.37:g.248201829G>A	ENSP00000355435:p.Gly87Glu					OR2L13_ENST00000366478.2_Intron	p.G87E	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		87					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.260G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	9.017	0.983980	0.18889	.	.	ENSG00000203663	ENST00000366479	T	0.01516	4.81	1.9	0.883	0.19177	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31199	U	0.008075	T	0.01800	0.0057	L	0.43646	1.37	0.09310	N	1	B	0.25609	0.13	B	0.23852	0.049	T	0.42965	-0.9420	10	0.56958	D	0.05	.	5.8513	0.18694	0.3768:0.0:0.6232:0.0	.	87	Q8NH16	OR2L2_HUMAN	E	87	ENSP00000355435:G87E	ENSP00000355435:G87E	G	+	2	0	OR2L2	246268452	0.000000	0.05858	0.532000	0.27989	0.154000	0.21943	-0.213000	0.09305	0.897000	0.36392	0.194000	0.17425	GGA		0.418	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		81	897	0	0	0	1	0	81	897					A	248201829	G	A	248201829	3	1	59	1	0	0	0	0	1	0	0	0	11049	1174	41	2	262	2	OR2L2	1	248201829	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	78615240	248201829	1048792	9	7118											
GPR113	165082	broad.mit.edu	37	chr2	26536714	26536714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacgtggtgtcagccatcGggcagcgctgaacagccagc	14	13	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:26536714G>A	ENST00000311519.1	-	8	1189	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.P198L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	397					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.P198L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCGGGCAGCGCTG	0.597																																						ENST00000333478.6																			1	Substitution - Missense(1)	p.P198L(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(592-594)cCg>cTg		G protein-coupled receptor 113							99	95	96					2																	26536714		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536714G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1190C>T	2.37:g.26536714G>A	ENSP00000307831:p.Pro397Leu					GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.P397L	p.P198L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			5	1175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		397					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.593C>T	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	37	6.513339	0.97629	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.07908	3.15;3.15;3.15	5.8	5.8	0.92144	.	.	.	.	.	T	0.14960	0.0361	L	0.61218	1.895	0.80722	D	1	B;P;B	0.50617	0.04;0.937;0.002	B;P;B	0.45506	0.017;0.483;0.004	T	0.00197	-1.1930	9	0.54805	T	0.06	-25.3472	15.561	0.76244	0.0:0.0:1.0:0.0	.	328;198;397	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	L	198;328;397	ENSP00000327396:P198L;ENSP00000388537:P328L;ENSP00000307831:P397L	ENSP00000307831:P397L	P	-	2	0	GPR113	26390218	0.997000	0.39634	0.966000	0.40874	0.015000	0.08874	3.155000	0.50700	2.755000	0.94549	0.655000	0.94253	CCG		0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		19	241	0	0	0	1	0	19	241					A	26536714	G	A	26536714	3	1	59	1	0	0	0	0	1	0	0	0	6659	1116	39	1	2162	1	GPR113	2	26536714	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		26536714	216662659	10	7119											
CDKL4	344387	broad.mit.edu	37	chr2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgtttgccataataCgcttttgatcactccatcag	7	9	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(316-318)Gta>Ata		cyclin-dependent kinase-like 4							80	88	85					2																	39440588		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440588C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.316G>A	2.37:g.39440588C>T	ENSP00000378476:p.Val106Ile					CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	315	-		all_hematologic(82;0.248)	106			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.316G>A		.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA		0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		20	378	0	0	0	1	0	20	378					T	39440588	C	T	39440588	3	4	59	1	0	0	0	0	1	0	0	0	3165	536	19	1	655	1	CDKL4	2	39440588	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	12903874	39440588	203758785	11	7120											
ABCG5	64240	broad.mit.edu	37	chr2	44055164	44055164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatggagacccggcgccGctcacccgtggaaatgcccc	13	16	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:44055164G>A	ENST00000260645.1	-	5	731	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Missense_Mutation_p.R117W	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	198	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|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)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ACCCGGCGCCGCTCACCCGTG	0.597																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(349-351)Cgg>Tgg		ATP-binding cassette, sub-family G (WHITE), member 5							50	47	48					2																	44055164		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055164G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.592C>T	2.37:g.44055164G>A	ENSP00000260645:p.Arg198Trp					ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Missense_Mutation_p.R198W	p.R117W			Q9H222	ABCG5_HUMAN			4	1245	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	198			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.349C>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788431	0.70337	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;D	0.94758	-3.51;-3.51	5.51	1.04	0.20106	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	15.1209	0.72441	0.0:0.0:0.22:0.78	.	117;198	E7EX35;Q9H222	.;ABCG5_HUMAN	W	198;117	ENSP00000260645:R198W;ENSP00000384513:R117W	ENSP00000260645:R198W	R	-	1	2	ABCG5	43908668	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.290000	0.43531	0.247000	0.21414	-0.152000	0.13540	CGG		0.597	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		14	133	0	0	0	1	0	14	133					A	44055164	G	A	44055164	3	1	59	1	0	0	0	0	1	0	0	0	71	1086	38	1	1399	1	ABCG5	2	44055164	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4614576	44055164	199144209	12	7121											
ADD2	119	broad.mit.edu	37	chr2	70903959	70903959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcggcaatgacgctcGccaggagctgggactgaggc	14	12	2	2	rs373747708		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:70903959G>A	ENST00000264436.4	-	13	2006	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V|ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	521					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1561-1563)gCg>gTg		adducin 2 (beta)							67	69	68					2																	70903959		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.chr2:70903959G>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.1562C>T	2.37:g.70903959G>A	ENSP00000264436:p.Ala521Val					ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V	p.A521V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	2006	-			521					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1562C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028296	0.93518	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.56199	1.76	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;0.99;1.0	D;P;D;D;P;D	0.87578	0.988;0.804;0.998;0.98;0.709;0.996	T	0.22626	-1.0211	10	0.72032	D	0.01	-25.3371	16.036	0.80628	0.0:0.0:1.0:0.0	.	537;521;215;521;521;521	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	521;521;521;215;521;215;521;537	ENSP00000264436:A521V;ENSP00000384677:A521V;ENSP00000347972:A521V;ENSP00000430243:A215V;ENSP00000388072:A521V;ENSP00000398112:A537V	ENSP00000264436:A521V	A	-	2	0	ADD2	70757467	1.000000	0.71417	0.988000	0.46212	0.838000	0.47535	8.884000	0.92432	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		31	367	0	0	0	1	0	31	367					A	70903959	G	A	70903959	3	1	59	1	0	0	0	0	1	0	0	0	305	1087	38	1	811	1	ADD2	2	70903959	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	26848795	70903959	172295414	13	7122											
EN1	2019	broad.mit.edu	37	chr2	119600717	119600717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgctccgtgatgtagcGgtttgcctggaactccgcct	12	14	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119600717G>A	ENST00000295206.6	-	2	1486	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	326					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTGATGTAGCGGTTTGCCTGG	0.597																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(976-978)Cgc>Tgc		engrailed homeobox 1							52	46	48					2																	119600717		2203	4300	6503	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600717G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.976C>T	2.37:g.119600717G>A	ENSP00000295206:p.Arg326Cys						p.R326C	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1486	-			326					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.976C>T	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270170	0.80469	.	.	ENSG00000163064	ENST00000295206	D	0.95918	-3.85	4.72	4.72	0.59763	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98991	1.0808	10	0.87932	D	0	-16.2565	12.4103	0.55464	0.0:0.0:0.8317:0.1683	.	326	Q05925	HME1_HUMAN	C	326	ENSP00000295206:R326C	ENSP00000295206:R326C	R	-	1	0	EN1	119317187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.643000	0.74334	2.174000	0.68829	0.555000	0.69702	CGC		0.597	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			11	119	0	0	0	1	0	11	119					A	119600717	G	A	119600717	3	1	59	1	0	0	0	0	1	0	0	0	5127	1116	39	1	206	1	EN1	2	119600717	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	48696758	119600717	123598656	14	7123											
EN1	2019	broad.mit.edu	37	chr2	119604052	119604052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccggggctccccgcgCcgcctccactgccgccgcca	12	23	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119604052C>T	ENST00000295206.6	-	1	1202	c.692G>A	c.(691-693)gGc>gAc	p.G231D	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	231	Poly-Gly.				anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCCCGCGCCGCCTCCACT	0.766																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(691-693)gGc>gAc		engrailed homeobox 1							9	12	11					2																	119604052		2173	4260	6433	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604052C>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.692G>A	2.37:g.119604052C>T	ENSP00000295206:p.Gly231Asp						p.G231D	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	1202	-			231			Poly-Gly.		Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.692G>A	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	C	3.021	-0.201824	0.06219	.	.	ENSG00000163064	ENST00000295206	D	0.91631	-2.88	3.45	2.54	0.30619	.	1.116690	0.06678	N	0.767538	T	0.77391	0.4123	N	0.01874	-0.695	0.20403	N	0.999905	B	0.02656	0.0	B	0.04013	0.001	T	0.66736	-0.5848	10	0.11794	T	0.64	-1.4516	6.0907	0.19993	0.0:0.7538:0.0:0.2462	.	231	Q05925	HME1_HUMAN	D	231	ENSP00000295206:G231D	ENSP00000295206:G231D	G	-	2	0	EN1	119320522	0.953000	0.32496	0.930000	0.37139	0.128000	0.20619	3.168000	0.50801	0.749000	0.32854	0.505000	0.49811	GGC		0.766	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			15	84	0	0	0	1	0	15	84					T	119604052	C	T	119604052	3	4	59	1	0	0	0	0	1	0	0	0	5127	739	26	2	494	2	EN1	2	119604052	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3335	119604052	123595321	15	7124											
LRP1B	53353	broad.mit.edu	37	chr2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgactgccattgggtcGgctagaatcgatccaataga	11	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					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)			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)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9190-9192)Cga>Tga		low density lipoprotein receptor-related protein 1B							93	95	94					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>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.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)					p.R3064*	NM_018557.2	NP_061027.2	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)	58	10161	-		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)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		30	330	0	0	0	1	0	30	330					A	141245239	G	A	141245239	4	1	59	1	0	0	0	0	0	1	0	0	8993	1124	39	1	4745	1	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	21641187	141245239	101954134	16	7125											
TTN	7273	broad.mit.edu	37	chr2	179470381	179470381	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggggctctttccagtcaaGtgtgatagtggactttgtcc	13	9	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:179470381G>C	ENST00000591111.1	-	229	48942	c.48718C>G	c.(48718-48720)Ctt>Gtt	p.L16240V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V|TTN_ENST00000589042.1_Missense_Mutation_p.L17881V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16240	Fibronectin type-III 18. {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)			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)			TTCCAGTCAAGTGTGATAGTG	0.438																																						ENST00000589042.1																			0				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						c.(53641-53643)Ctt>Gtt		titin							103	99	101					2																	179470381		1933	4125	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179470381G>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.48718C>G	2.37:g.179470381G>C	ENSP00000465570:p.Leu16240Val					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16240V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V	p.L17881V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	53865	-			16240			Fibronectin type-III 29.		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.53641C>G		.	.	.	.	.	.	.	.	.	.	G	6.849	0.525950	0.13066	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.65	4.78	0.61160	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59985	0.2234	L	0.59436	1.845	0.47621	D	0.999476	P;P;P;P	0.47762	0.9;0.9;0.9;0.9	P;P;P;P	0.45794	0.493;0.493;0.493;0.493	T	0.65672	-0.6111	9	0.87932	D	0	.	14.6202	0.68579	0.0699:0.0:0.9301:0.0	.	8816;8941;9008;16240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15313;8816;9008;8941;8816	ENSP00000343764:L15313V;ENSP00000434586:L8816V;ENSP00000340554:L9008V;ENSP00000352154:L8941V	ENSP00000340554:L9008V	L	-	1	0	TTN	179178626	1.000000	0.71417	0.993000	0.49108	0.554000	0.35429	3.344000	0.52174	1.394000	0.46624	-0.140000	0.14226	CTT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	307	0	0	0	1	0	5	307					C	179470381	G	C	179470381	3	2	59	1	0	0	0	0	1	0	0	0	16789	1029	36	5	54388	5	TTN	2	179470381	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	38225142	179470381	63728992	17	7126											
C2orf85	285093	broad.mit.edu	37	chr2	242814188	242814188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaggccccagaccccGcctggagcgccaacgccaca	10	19	0	2	rs376986511		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:242814188G>A	ENST00000343216.3	+	2	509	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_173821.2	NP_776182.2																					CCCAGACCCCGCCTGGAGCGC	0.706																																						ENST00000343216.3																			0											c.(481-483)Gcc>Acc		CXXC finger protein 11			THR/ALA	0,3872		0,0,1936	7	9	8		481	-0.2	0	2		8	1,8197		0,1,4098	no	missense	C2orf85	NM_173821.2	58	0,1,6034	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	161/573	242814188	1,12069	1936	4099	6035	SO:0001583	missense	285093					integral to membrane		g.chr2:242814188G>A																												ENST00000343216.3:c.481G>A	2.37:g.242814188G>A	ENSP00000345374:p.Ala161Thr						p.A161T	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	509	+			161						Missense_Mutation	SNP	ENST00000343216.3	37	c.481G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	8.890	0.953715	0.18431	0.0	1.22E-4	ENSG00000188011	ENST00000343216	T	0.37752	1.18	2.88	-0.156	0.13391	.	.	.	.	.	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.42375	0.778	B	0.24155	0.051	T	0.19160	-1.0314	9	0.17369	T	0.5	-13.4968	4.5	0.11860	0.2398:0.1874:0.5728:0.0	.	161	Q14D33	CB085_HUMAN	T	161	ENSP00000345374:A161T	ENSP00000345374:A161T	A	+	1	0	C2orf85	242462861	0.001000	0.12720	0.000000	0.03702	0.357000	0.29423	0.115000	0.15540	-0.028000	0.13850	0.450000	0.29827	GCC		0.706	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	64	0	0	0	1	0	6	64					A	242814188	G	A	242814188	3	1	59	1	0	0	0	0	1	0	0	0	2207	1087	38	1	487	1	C2orf85	2	242814188	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	63343807	242814188	385185	18	7127											
SRGAP3	9901	broad.mit.edu	37	chr3	9036080	9036080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccatccacgccgttgtgCcggccctcccaccagtcctc	8	20	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:9036080C>T	ENST00000383836.3	-	19	2782	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SRGAP3_ENST00000360413.3_Silent_p.R761R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCCGTTGTGCCGGCCCTCCC	0.567			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2353-2355)cgG>cgA		SLIT-ROBO Rho GTPase activating protein 3							85	85	85					3																	9036080		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036080C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2355G>A	3.37:g.9036080C>T						SRGAP3_ENST00000360413.3_Silent_p.R761R	p.R785R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2782	-			785					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2355G>A	CCDS2572.1																																																																																				0.567	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			6	555	0	0	0	1	0	6	555					T	9036080	C	T	9036080	2	4	59	1	0	0	0	0	0	0	0	1	15199	726	26	2		2	SRGAP3	3	9036080	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		9036080	188986350	19	7128											
IQSEC1	9922	broad.mit.edu	37	chr3	12983364	12983364	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggcctcgccctcgaCgctgcagaggagagagaggt	18	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:12983364C>T	ENST00000273221.4	-	2	283	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	23					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGCCCTCGACGCTGCAGAGG	0.672																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e2-1		IQ motif and Sec7 domain 1							15	14	15					3																	12983364		2195	4292	6487	SO:0001630	splice_region_variant	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12983364C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.66-1G>A	3.37:g.12983364C>T						IQSEC1_ENST00000473088.1_5'UTR	p.V23_splice	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			2	283	-			23					O94863|Q96D85	Splice_Site	SNP	ENST00000273221.4	37	c.65_splice	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.86|14.86	2.660482|2.660482	0.47572|0.47572	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.78126	.|-1.15;2.09	4.31|4.31	3.44|3.44	0.39384|0.39384	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.86752|0.86752	0.6008|0.6008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.997	.|D;P	.|0.71184	.|0.972;0.686	D|D	0.87790|0.87790	0.2618|0.2618	4|9	.|0.72032	.|D	.|0.01	.|.	12.166|12.166	0.54131|0.54131	0.0:0.9167:0.0:0.0833|0.0:0.9167:0.0:0.0833	.|.	.|9;23	.|E9PG60;Q6DN90	.|.;IQEC1_HUMAN	H|I	23|23;9;9	.|ENSP00000273221:V23I;ENSP00000402299:V9I	.|ENSP00000273221:V23I	R|V	-|-	2|1	0|0	IQSEC1|IQSEC1	12958364|12958364	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.003000|0.003000	0.03518|0.03518	5.910000|5.910000	0.69931|0.69931	1.035000|1.035000	0.39972|0.39972	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		0.672	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	Missense_Mutation	7	49	0	0	0	1	0	7	49					T	12983364	C	T	12983364	5	4	59	1	0	0	0	0	0	0	1	0	7847	550	19	1	3421	1	IQSEC1	3	12983364	Splice_Site	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3947284	12983364	185039066	20	7129											
EXOG	9941	broad.mit.edu	37	chr3	38537984	38537984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagttcttccggagtcaGggcgctgagggagcgttgac	16	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38537984G>T	ENST00000287675.5	+	1	222	c.126G>T	c.(124-126)caG>caT	p.Q42H	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	42					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCCGGAGTCAGGGCGCTGAGG	0.672											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(124-126)caG>caT		endo/exonuclease (5'-3'), endonuclease G-like							49	48	48					3																	38537984		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537984G>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.126G>T	3.37:g.38537984G>T	ENSP00000287675:p.Gln42His		OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H	p.Q42H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			1	222	+			42					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.126G>T	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.353019|4.353019	0.82132|0.82132	.|.	.|.	ENSG00000157036|ENSG00000157036	ENST00000453767|ENST00000287675;ENST00000422077	.|T;T	.|0.49139	.|0.89;0.79	5.04|5.04	4.14|4.14	0.48551|0.48551	.|.	.|0.592761	.|0.16055	.|N	.|0.231752	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.29908|0.29908	0.895|0.895	0.30194|0.30194	N|N	0.799236|0.799236	.|P;P	.|0.40794	.|0.729;0.61	.|B;B	.|0.41236	.|0.351;0.191	T|T	0.21109|0.21109	-1.0255|-1.0255	5|10	.|0.33940	.|T	.|0.23	-0.4337|-0.4337	9.6255|9.6255	0.39748|0.39748	0.098:0.0:0.902:0.0|0.098:0.0:0.902:0.0	.|.	.|42;42	.|Q9Y2C4-4;Q9Y2C4	.|.;EXOG_HUMAN	W|H	5|42	.|ENSP00000287675:Q42H;ENSP00000404305:Q42H	.|ENSP00000287675:Q42H	G|Q	+|+	1|3	0|2	EXOG|EXOG	38512988|38512988	0.009000|0.009000	0.17119|0.17119	0.051000|0.051000	0.19133|0.19133	0.897000|0.897000	0.52465|0.52465	1.661000|1.661000	0.37408|0.37408	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.672	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		7	459	1	0	0.00198382	1	0.00199637	7	459					T	38537984	G	T	38537984	3	4	59	1	0	0	0	0	1	0	0	0	5330	991	35	3	128	3	EXOG	3	38537984	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	25554620	38537984	159484446	21	7130											
SCN5A	6331	broad.mit.edu	37	chr3	38592495	38592495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatagaacatatcgaagtCgtcctcactcaggggctcgg	10	12	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38592495C>T	ENST00000333535.4	-	28	5517	c.5368G>A	c.(5368-5370)Gac>Aac	p.D1790N	SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1790N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1790			D -> G (in LQT3). {ECO:0000269|PubMed:9686753}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATATCGAAGTCGTCCTCACTC	0.512																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5368-5370)Gac>Aac		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						70	74	73					3																	38592495		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592495C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5368G>A	3.37:g.38592495C>T	ENSP00000328968:p.Asp1790Asn					SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1790N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N	p.D1790N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5561	-	Medulloblastoma(35;0.163)		1790		D -> G (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5368G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522522	0.85600	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96651	-3.95;-3.98;-3.99;-4.04;-3.98;-3.95;-3.98;-4.08;-4.04;-4.04	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.95437	3.67	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;0.999;0.998;1.0;0.999	D	0.99698	1.1003	10	0.87932	D	0	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1736;1757;1772;1790;1789;1790	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	N	1772;1789;1790;1736;1789;1772;1790;1757;1736;1736	ENSP00000398962:D1772N;ENSP00000398266:D1789N;ENSP00000410257:D1790N;ENSP00000388797:D1736N;ENSP00000397915:D1789N;ENSP00000416634:D1772N;ENSP00000328968:D1790N;ENSP00000399524:D1757N;ENSP00000403355:D1736N;ENSP00000413996:D1736N	ENSP00000328968:D1790N	D	-	1	0	SCN5A	38567499	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.640000	0.83355	2.504000	0.84457	0.563000	0.77884	GAC		0.512	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		31	285	0	0	0	1	0	31	285					T	38592495	C	T	38592495	3	4	59	1	0	0	0	0	1	0	0	0	13972	884	31	1	686	1	SCN5A	3	38592495	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	54511	38592495	159429935	22	7131											
PFKFB4	5210	broad.mit.edu	37	chr3	48587623	48587623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtcttgcccctggcggGcaggcccaccatgacaatga	13	13	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:48587623G>A	ENST00000232375.3	-	2	254	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	48	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCTGGCGGGCAGGCCCACC	0.597																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(142-144)Ccc>Tcc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							125	97	107					3																	48587623		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48587623G>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.142C>T	3.37:g.48587623G>A	ENSP00000232375:p.Pro48Ser					PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S	p.P48S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	2	254	-			48			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.142C>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878733	0.91740	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.74	4.74	0.60224	6-phosphofructo-2-kinase (1);	0.056562	0.64402	D	0.000001	D	0.91019	0.7175	H	0.99525	4.61	0.80722	D	1	D;P;D;D	0.76494	0.999;0.942;0.992;0.999	D;P;P;D	0.85130	0.997;0.575;0.793;0.991	D	0.94606	0.7800	9	0.87932	D	0	-26.2505	15.262	0.73631	0.0:0.0:1.0:0.0	.	37;48;48;48	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	S	48;37;48;48;14;48;37;14;51	.	ENSP00000232375:P48S	P	-	1	0	PFKFB4	48562627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.530000	0.98051	2.462000	0.83206	0.655000	0.94253	CCC		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		5	276	0	0	0	1	0	5	276					A	48587623	G	A	48587623	3	1	59	1	0	0	0	0	1	0	0	0	11805	1203	42	2	1319	2	PFKFB4	3	48587623	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	9995128	48587623	149434807	23	7132											
DPPA4	55211	broad.mit.edu	37	chr3	109050853	109050853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggggttgtcagtgtgCtctgcctttttcttagggca	14	8	4	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:109050853C>T	ENST00000335658.6	-	3	258	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	68					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCAGTGTGCTCTGCCTTTT	0.423																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(202-204)gaG>gaA		developmental pluripotency associated 4							159	157	158					3																	109050853		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050853C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.204G>A	3.37:g.109050853C>T						DPPA4_ENST00000478791.1_5'UTR	p.E68E	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			3	258	-			68					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.204G>A	CCDS33814.1																																																																																				0.423	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		47	562	0	0	0	1	0	47	562					T	109050853	C	T	109050853	2	4	59	1	0	0	0	0	0	0	0	1	4752	796	28	2		2	DPPA4	3	109050853	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	60463230	109050853	88971577	24	7133											
ATR	545	broad.mit.edu	37	chr3	142218556	142218556	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttaattcatctgtccactCggacctattaaaagaaaccc	5	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:142218556C>A	ENST00000350721.4	-	31	5414	c.5293G>T	c.(5293-5295)Gag>Tag	p.E1765*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1765	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTGTCCACTCGGACCTATTA	0.328								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(5293-5295)Gag>Tag	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							103	101	102					3																	142218556		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142218556C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5293G>T	3.37:g.142218556C>A	ENSP00000343741:p.Glu1765*					ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	p.E1765*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			31	5414	-			1765			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.5293G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	45	12.012439	0.99627	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.95	4.95	0.65309	.	0.170465	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.3155	18.1893	0.89802	0.0:1.0:0.0:0.0	.	.	.	.	X	1765;1701	.	ENSP00000343741:E1765X	E	-	1	0	ATR	143701246	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.898000	0.63238	2.299000	0.77371	0.655000	0.94253	GAG		0.328	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		48	361	1	0	6.68952e-21	1	7.09089e-21	48	361					A	142218556	C	A	142218556	4	1	59	1	0	0	0	0	0	1	0	0	1205	893	31	3	2709	3	ATR	3	142218556	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	33167703	142218556	55803874	25	7134											
SH3TC1	54436	broad.mit.edu	37	chr4	8214499	8214499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctacagcagaccctcCggggccagctccgcctgctg	12	19	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:8214499C>T	ENST00000245105.3	+	4	386	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R31W	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	107										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGACCCTCCGGGGCCAGCT	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(91-93)Cgg>Tgg		SH3 domain and tetratricopeptide repeats 1							20	25	23					4																	8214499		2201	4298	6499	SO:0001583	missense	54436						binding	g.chr4:8214499C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.319C>T	4.37:g.8214499C>T	ENSP00000245105:p.Arg107Trp					SH3TC1_ENST00000245105.3_Missense_Mutation_p.R107W	p.R31W			Q8TE82	S3TC1_HUMAN			4	465	+			107					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.91C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012619	0.35511	.	.	ENSG00000125089	ENST00000509119;ENST00000245105;ENST00000539824	D;D	0.87650	-2.28;-2.18	3.4	0.0176	0.14113	.	0.086238	0.41097	D	0.000942	D	0.90133	0.6917	L	0.60455	1.87	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.82965	-0.0195	10	0.87932	D	0	-24.2913	10.6304	0.45532	0.7165:0.2835:0.0:0.0	.	107	Q8TE82	S3TC1_HUMAN	W	31;107;31	ENSP00000245105:R107W;ENSP00000441045:R31W	ENSP00000245105:R107W	R	+	1	2	SH3TC1	8265399	0.987000	0.35691	0.024000	0.17045	0.245000	0.25701	0.936000	0.28938	0.139000	0.18822	0.462000	0.41574	CGG		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		14	121	0	0	0	1	0	14	121					T	8214499	C	T	8214499	3	4	59	1	0	0	0	0	1	0	0	0	14311	643	23	1	329	1	SH3TC1	4	8214499	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		8214499	182939777	26	7135											
PF4V1	5197	broad.mit.edu	37	chr4	74719545	74719545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcctgtgtgtgaagaCcacctcccaggtccgtccca	11	15	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:74719545C>T	ENST00000226524.3	+	2	320	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	49					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTGTGAAGACCACCTCCCAG	0.612																																						ENST00000226524.3																			0				endometrium(1)|liver(2)	3						c.(145-147)aCc>aTc		platelet factor 4 variant 1							54	54	54					4																	74719545		2202	4296	6498	SO:0001583	missense	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719545C>T	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.146C>T	4.37:g.74719545C>T	ENSP00000226524:p.Thr49Ile						p.T49I	NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	320	+	Breast(15;0.00102)		49					A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	c.146C>T	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796258	0.50208	.	.	ENSG00000109272	ENST00000226524	T	0.05258	3.47	4.12	3.28	0.37604	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.210963	0.43260	D	0.000587	T	0.19167	0.0460	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01613	-1.1312	10	0.46703	T	0.11	.	7.8069	0.29209	0.0:0.8881:0.0:0.1119	.	49	P10720	PF4V_HUMAN	I	49	ENSP00000226524:T49I	ENSP00000226524:T49I	T	+	2	0	PF4V1	74938409	0.975000	0.34042	0.156000	0.22583	0.142000	0.21351	3.506000	0.53364	1.313000	0.45069	0.655000	0.94253	ACC		0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			13	83	0	0	0	1	0	13	83					T	74719545	C	T	74719545	3	4	59	1	0	0	0	0	1	0	0	0	11795	507	18	2	152	2	PF4V1	4	74719545	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	66505046	74719545	116434731	27	7136											
PAQR3	152559	broad.mit.edu	37	chr4	79847745	79847745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggaatcactccatatcccGaaacagaacaaaagatgata	6	9	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:79847745G>A	ENST00000512733.1	-	4	845	c.632C>T	c.(631-633)tCg>tTg	p.S211L	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	211					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCCATATCCCGAAACAGAACA	0.443																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(631-633)tCg>tTg		progestin and adipoQ receptor family member III							163	153	156					4																	79847745		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79847745G>A	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.632C>T	4.37:g.79847745G>A	ENSP00000421981:p.Ser211Leu					PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	p.S211L	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			4	845	-			211					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.632C>T	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298408	0.40694	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.29142	1.58;1.58	5.88	5.88	0.94601	.	0.104089	0.64402	D	0.000003	T	0.25195	0.0612	N	0.17474	0.49	0.80722	D	1	B	0.22851	0.076	B	0.22753	0.041	T	0.03761	-1.1006	10	0.51188	T	0.08	-2.2939	20.2187	0.98312	0.0:0.0:1.0:0.0	.	211	Q6TCH7	PAQR3_HUMAN	L	211	ENSP00000421981:S211L;ENSP00000370019:S211L	ENSP00000344203:S211L	S	-	2	0	PAQR3	80066769	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	7.938000	0.87678	2.780000	0.95670	0.655000	0.94253	TCG		0.443	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		27	476	0	0	0	1	0	27	476					A	79847745	G	A	79847745	3	1	59	1	0	0	0	0	1	0	0	0	11478	1059	37	1	315	1	PAQR3	4	79847745	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	5128200	79847745	111306531	28	7137											
BMP3	651	broad.mit.edu	37	chr4	81967430	81967430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgccctttccattgagcgGaggaagaagcgctctactgg	13	11	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:81967430G>A	ENST00000282701.2	+	2	1175	c.855G>A	c.(853-855)cgG>cgA	p.R285R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	285					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTGAGCGGAGGAAGAAGC	0.512																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(853-855)cgG>cgA		bone morphogenetic protein 3							69	75	73					4																	81967430		2203	4299	6502	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967430G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.855G>A	4.37:g.81967430G>A							p.R285R	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1175	+			285					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.855G>A	CCDS3588.1																																																																																				0.512	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			32	353	0	0	0	1	0	32	353					A	81967430	G	A	81967430	2	1	59	1	0	0	0	0	0	0	0	1	1463	1161	41	2		2	BMP3	4	81967430	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2119685	81967430	109186846	29	7138											
KIAA1109	84162	broad.mit.edu	37	chr4	123164205	123164205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagacagaggcatgcaacTttcaggatcaacttcaaagt	9	9	3	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:123164205T>G	ENST00000264501.4	+	30	5097	c.4724T>G	c.(4723-4725)cTt>cGt	p.L1575R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R			Q2LD37	K1109_HUMAN	KIAA1109	1575					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATGCAACTTTCAGGATCA	0.308																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4723-4725)cTt>cGt		KIAA1109							102	100	101					4																	123164205		1815	4086	5901	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123164205T>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4724T>G	4.37:g.123164205T>G	ENSP00000264501:p.Leu1575Arg					KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R	p.L1575R			Q2LD37	K1109_HUMAN			30	5097	+			1575					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4724T>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310599|4.310599	0.81358|0.81358	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.32515	.|2.05;2.05;1.45	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.184226	.|0.22649	.|U	.|0.057348	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.47276|0.47276	D|D	0.999372|0.999372	.|P;P	.|0.45176	.|0.852;0.567	.|P;B	.|0.45610	.|0.487;0.384	T|T	0.09037|0.09037	-1.0693|-1.0693	5|10	.|0.87932	.|D	.|0	.|.	15.6119|15.6119	0.76727|0.76727	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1574;1575	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	V|R	148|1575	.|ENSP00000264501:L1575R;ENSP00000373390:L1575R;ENSP00000389925:L1575R	.|ENSP00000264501:L1575R	F|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123383655|123383655	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	7.388000|7.388000	0.79795|0.79795	2.083000|2.083000	0.62718|0.62718	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.308	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		29	412	0	0	0	1	0	29	412					G	123164205	T	G	123164205	3	3	59	1	0	0	0	0	1	0	0	0	8238	1609	56	4	4834	4	KIAA1109	4	123164205	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	41196775	123164205	67990071	30	7139											
NPY2R	4887	broad.mit.edu	37	chr4	156135406	156135406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacactctgtgtctaccGttcactcttacctatacctt	5	13	4	1	rs148709959		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGTGTCTACCGTTCACTCTTA	0.493																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(313-315)ccG>ccA		neuropeptide Y receptor Y2							79	81	80					4																	156135406		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135406G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.315G>A	4.37:g.156135406G>A						NPY2R_ENST00000506608.1_Silent_p.P105P	p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	804	+	all_hematologic(180;0.24)	Renal(120;0.0854)	105					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.315G>A	CCDS3791.1																																																																																				0.493	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		21	246	0	0	0	1	0	21	246					A	156135406	G	A	156135406	2	1	59	1	0	0	0	0	0	0	0	1	10651	1132	40	1		1	NPY2R	4	156135406	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	32971201	156135406	35018870	31	7140											
TERT	7015	broad.mit.edu	37	chr5	1294328	1294328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcggctggcactgccccCgcgcctcctcgcacccgggg	12	20	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:1294328C>T	ENST00000310581.5	-	2	730	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000296820.5_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R|TERT_ENST00000522877.1_5'Flank	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	225	RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCACTGCCCCCGCGCCTCCTC	0.746									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(673-675)Ggg>Agg		telomerase reverse transcriptase							4	6	5					5																	1294328		2021	3975	5996	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294328C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.673G>A	5.37:g.1294328C>T	ENSP00000309572:p.Gly225Arg					TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R|TERT_ENST00000296820.5_Missense_Mutation_p.G225R	p.G225R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	730	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		225			RNA-interacting domain 1.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.673G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	2.596	-0.294105	0.05568	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96300	-3.97;-3.94;-3.87;-3.94	2.56	0.705	0.18127	.	2.448580	0.01590	N	0.021516	D	0.83658	0.5302	N	0.00246	-1.78	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.80832	-0.1206	10	0.15066	T	0.55	-25.6165	6.4339	0.21813	0.1225:0.5074:0.3702:0.0	.	225;225;225	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	R	225	ENSP00000309572:G225R;ENSP00000296820:G225R;ENSP00000334346:G225R;ENSP00000426042:G225R	ENSP00000296820:G225R	G	-	1	0	TERT	1347328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.063000	0.14410	0.155000	0.19261	-0.384000	0.06662	GGG		0.746	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			7	65	0	0	0	1	0	7	65					T	1294328	C	T	1294328	3	4	59	1	0	0	0	0	1	0	0	0	15816	652	23	1	2785	1	TERT	5	1294328	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		1294328	179620932	32	7141											
KCNN2	3781	broad.mit.edu	37	chr5	113698895	113698895	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgactacgcgctcatcttCggcatgttcggcatcgtggt	12	12	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:113698895C>T	ENST00000512097.3	+	2	1441	c.423C>T	c.(421-423)ttC>ttT	p.F141F	KCNN2_ENST00000264773.3_Silent_p.F141F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	141					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGCTCATCTTCGGCATGTTCG	0.602																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(421-423)ttC>ttT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							34	35	35					5																	113698895		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698895C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.423C>T	5.37:g.113698895C>T						KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.F141F	p.F141F			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1441	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	141					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.423C>T	CCDS4114.1																																																																																				0.602	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		13	208	0	0	0	1	0	13	208					T	113698895	C	T	113698895	2	4	59	1	0	0	0	0	0	0	0	1	8109	883	31	1		1	KCNN2	5	113698895	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	112404567	113698895	67216365	33	7142											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102	101	101					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	497						7	497	---	---	---	---	-	122881495	A	-	122881495	7	5	59	1	0	1	0	1	0	0	0	0	3967	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-FZ-5921-01A-11D-1609-08	9182600	122881495	58033765	34	7143											
PCDHB14	56122	broad.mit.edu	37	chr5	140604077	140604077	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaggaaaatgcacccttCtagttaaagttatggatata	7	6	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140604077C>T	ENST00000239449.4	+	1	1000	c.1000C>T	c.(1000-1002)Cta>Tta	p.L334L	PCDHB14_ENST00000515856.2_Silent_p.L181L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCCTTCTAGTTAAAGT	0.408																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1000-1002)Cta>Tta									82	88	86					5																	140604077		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604077C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1000C>T	5.37:g.140604077C>T						PCDHB14_ENST00000515856.2_Silent_p.L181L	p.L334L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1000	+			334			Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1000C>T	CCDS4256.1																																																																																				0.408	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		6	418	0	0	0	1	0	6	418					T	140604077	C	T	140604077	2	4	59	1	0	0	0	0	0	0	0	1	11581	912	32	2		2	PCDHB14	5	140604077	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	17722582	140604077	40311183	35	7144											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801533	140801533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaatgtttacacagtccGtatatcgcgtgagtgttcca	8	11	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140801533G>A	ENST00000398587.2	+	1	772	c.739G>A	c.(739-741)Gta>Ata	p.V247I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	247	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)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGTCCGTATATCGCGT	0.502																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(739-741)Gta>Ata									106	109	108					5																	140801533		1994	4170	6164	SO:0001583	missense	0							g.chr5:140801533G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.739G>A	5.37:g.140801533G>A	ENSP00000381589:p.Val247Ile					PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.V247I	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	772	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.739G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	7.771	0.707484	0.15239	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01767	4.65;4.65	5.96	4.16	0.48862	Cadherin (3);Cadherin-like (1);	0.655568	0.10334	U	0.687150	T	0.01558	0.0050	L	0.28054	0.825	0.09310	N	1	B;P;B	0.36944	0.181;0.574;0.276	B;B;B	0.21708	0.014;0.036;0.031	T	0.52525	-0.8564	10	0.30078	T	0.28	.	11.6301	0.51168	0.0674:0.1249:0.8077:0.0	.	247;247;247	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	I	247	ENSP00000381589:V247I;ENSP00000428333:V247I	ENSP00000381589:V247I	V	+	1	0	PCDHGA11	140781717	0.000000	0.05858	0.210000	0.23637	0.805000	0.45488	0.499000	0.22546	0.838000	0.34948	0.655000	0.94253	GTA		0.502	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		6	580	0	0	0	1	0	6	580					A	140801533	G	A	140801533	3	1	59	1	0	0	0	0	1	0	0	0	11594	1145	40	1	741	1	PCDHGA11	5	140801533	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	197456	140801533	40113727	36	7145											
GRIA1	2890	broad.mit.edu	37	chr5	153054198	153054198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgctcgagaccacacaCgggtggactggaagagaccc	14	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:153054198C>T	ENST00000285900.5	+	6	1181	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	280					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGACCACACACGGGTGGACTG	0.557																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(838-840)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						108	97	101					5																	153054198		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153054198C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.838C>T	5.37:g.153054198C>T	ENSP00000285900:p.Arg280Trp					GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W	p.R280W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	1181	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	280					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.838C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825906	0.71143	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.56	3.67	0.42095	Extracellular ligand-binding receptor (1);	0.058832	0.64402	D	0.000004	T	0.33000	0.0848	L	0.34521	1.04	0.50039	D	0.999845	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.996	D;D;B;D;D;P	0.67231	0.95;0.95;0.439;0.95;0.916;0.868	T	0.03545	-1.1026	10	0.66056	D	0.02	.	13.4245	0.61018	0.2865:0.7135:0.0:0.0	.	290;290;200;290;280;280	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	W	280;280;200;234;280;211;211;290;290	ENSP00000285900:R280W;ENSP00000427920:R200W;ENSP00000339343:R280W;ENSP00000427864:R211W;ENSP00000442108:R211W;ENSP00000428994:R290W;ENSP00000415569:R290W	ENSP00000285900:R280W	R	+	1	2	GRIA1	153034391	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	2.989000	0.49393	0.616000	0.30141	0.655000	0.94253	CGG		0.557	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			47	332	0	0	0	1	0	47	332					T	153054198	C	T	153054198	3	4	59	1	0	0	0	0	1	0	0	0	6797	527	19	1	860	1	GRIA1	5	153054198	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	12252665	153054198	27861062	37	7146											
TIMD4	91937	broad.mit.edu	37	chr5	156378788	156378788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggttgctgttctgtgCgtggttgttgaggctgtaac	17	5	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:156378788C>T	ENST00000274532.2	-	3	470	c.414G>A	c.(412-414)acG>acA	p.T138T	TIMD4_ENST00000407087.3_Silent_p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	138	Thr-rich.					integral component of membrane (GO:0016021)		p.T138T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTCTGTGCGTGGTTGTTG	0.493																																						ENST00000274532.2																			1	Substitution - coding silent(1)	p.T138T(1)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(412-414)acG>acA		T-cell immunoglobulin and mucin domain containing 4							665	578	607					5																	156378788		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156378788C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.414G>A	5.37:g.156378788C>T						TIMD4_ENST00000407087.3_Silent_p.T138T	p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	470	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	138			Thr-rich.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.414G>A	CCDS4332.1																																																																																				0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		79	1059	0	0	0	1	0	79	1059					T	156378788	C	T	156378788	2	4	59	1	0	0	0	0	0	0	0	1	15955	755	27	1		1	TIMD4	5	156378788	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3324590	156378788	24536472	38	7147											
GABRB2	2561	broad.mit.edu	37	chr5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgcaggcgaatcatgCggttcttaacagtcactccg	11	11	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:160886675C>T	ENST00000393959.1	-	4	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	GCGAATCATGCGGTTCTTAAC	0.448																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(412-414)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104	95	98					5																	160886675		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886675C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.413G>A	5.37:g.160886675C>T	ENSP00000377531:p.Arg138His					GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H	p.R138H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	630	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	138					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.413G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364320	0.95877	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102623	0.64402	D	0.000008	D	0.86875	0.6038	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.973;0.977;0.979	D	0.88229	0.2902	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	138;75;138;138	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	138;138;138;138;75	ENSP00000377531:R138H;ENSP00000274547:R138H;ENSP00000274546:R138H;ENSP00000429320:R138H;ENSP00000430532:R75H	ENSP00000274547:R138H	R	-	2	0	GABRB2	160819253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.455000	0.83008	0.655000	0.94253	CGC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			4	153	0	0	0	1	0	4	153					T	160886675	C	T	160886675	3	4	59	1	0	0	0	0	1	0	0	0	6194	768	27	1	1153	1	GABRB2	5	160886675	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	4507887	160886675	20028585	39	7148											
SQSTM1	8878	broad.mit.edu	37	chr5	179248115	179248115	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgttccccgcgctgcggcCtggcggcttccaggcgcact	13	18	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:179248115C>G	ENST00000389805.4	+	1	357	c.179C>G	c.(178-180)cCt>cGt	p.P60R	SQSTM1_ENST00000360718.5_5'Flank|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	60	Interaction with PAWR.|Interaction with PRKCZ and dimerization. {ECO:0000250}.|OPR.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGCTGCGGCCTGGCGGCTTC	0.801																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(178-180)cCt>cGt		sequestosome 1							2	2	2					5																	179248115		1002	2412	3414	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179248115C>G	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.179C>G	5.37:g.179248115C>G	ENSP00000374455:p.Pro60Arg					SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000402874.3_5'UTR	p.P60R	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	357	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	60			Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.179C>G	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602748	0.46423	.	.	ENSG00000161011	ENST00000389805;ENST00000504627;ENST00000510187	T;T;T	0.39406	1.92;1.08;1.92	4.61	4.61	0.57282	Phox/Bem1p (2);	0.628414	0.15843	N	0.241907	T	0.47451	0.1446	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.65233	0.933;0.922	T	0.24440	-1.0160	10	0.27785	T	0.31	-9.3298	12.9006	0.58123	0.0:0.8362:0.1638:0.0	.	60;60	Q13501;E7EMC7	SQSTM_HUMAN;.	R	60	ENSP00000374455:P60R;ENSP00000425957:P60R;ENSP00000424477:P60R	ENSP00000374455:P60R	P	+	2	0	SQSTM1	179180721	0.986000	0.35501	0.028000	0.17463	0.771000	0.43674	3.402000	0.52608	2.087000	0.62958	0.462000	0.41574	CCT		0.801	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			3	10	0	0	0	1	0	3	10					G	179248115	C	G	179248115	3	3	59	1	0	0	0	0	1	0	0	0	15182	681	24	5	181	5	SQSTM1	5	179248115	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	18361440	179248115	1667145	40	7149											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC													agggcggcggaagcggagagINSggcggcggcggcggcggcgg					rs370190435|rs536582109	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		5	6						5	6	---	---	---	---	GGC	22570347	-	GGC	22570346	7	5	59	1	0	1	1	0	0	0	0	0	7049	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08		22570346	148544721	41	7150											
OR2H2	7932	broad.mit.edu	37	chr6	29555744	29555744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaccaaagctccacacCgggcttcctccttctgggct	9	15	1	0	rs550213872	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:29555744C>T	ENST00000383640.2	+	1	62	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	8					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGCTCCACACCGGGCTTCCTC	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.002					ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(22-24)cCg>cTg		olfactory receptor, family 2, subfamily H, member 2							134	144	141					6																	29555744		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555744C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.23C>T	6.37:g.29555744C>T	ENSP00000373136:p.Pro8Leu					GABBR1_ENST00000355973.3_Intron	p.P8L	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	62	+			8					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.23C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.991784	0.00439	.	.	ENSG00000204657	ENST00000383640	T	0.00452	7.34	4.0	-8.0	0.01126	.	2.301840	0.02378	N	0.078587	T	0.00039	0.0001	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42766	-0.9432	10	0.34782	T	0.22	.	1.8197	0.03108	0.4082:0.2152:0.2648:0.1118	.	8	O95918	OR2H2_HUMAN	L	8	ENSP00000373136:P8L	ENSP00000373136:P8L	P	+	2	0	OR2H2	29663723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.499000	0.00035	-4.035000	0.00079	-1.815000	0.00603	CCG		0.522	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			6	509	0	0	0	1	0	6	509					T	29555744	C	T	29555744	3	4	59	1	0	0	0	0	1	0	0	0	11044	652	23	1	25	1	OR2H2	6	29555744	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6985398	29555744	141559323	42	7151											
BAI3	577	broad.mit.edu	37	chr6	69666614	69666614	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgggaaaggcgaataAggacctgtcagggtgcagtg	18	7	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:69666614A>C	ENST00000370598.1	+	8	2259	c.1438A>C	c.(1438-1440)Agg>Cgg	p.R480R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	480	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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)				AAGGCGAATAAGGACCTGTCA	0.507																																						ENST00000370598.1																			0				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						c.(1438-1440)Agg>Cgg		brain-specific angiogenesis inhibitor 3							163	154	157					6																	69666614		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666614A>C	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.1438A>C	6.37:g.69666614A>C							p.R480R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			8	2259	+		all_lung(197;0.212)	480			TSP type-1 4.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1438A>C	CCDS4968.1																																																																																				0.507	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			30	404	0	0	0	1	0	30	404					C	69666614	A	C	69666614	2	2	59	1	0	0	0	0	0	0	0	1	1301	63	3	4		4	BAI3	6	69666614	Silent	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	40110870	69666614	101448453	43	7152											
FILIP1	27145	broad.mit.edu	37	chr6	76022446	76022446	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgactttgaggattgtCcgtcccatgggcatttcctg	14	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76022446C>T	ENST00000237172.7	-	5	3432	c.3102G>A	c.(3100-3102)cgG>cgA	p.R1034R	FILIP1_ENST00000393004.2_Silent_p.R1034R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.R935R	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGGATTGTCCGTCCCATGG	0.468																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3100-3102)cgG>cgA		filamin A interacting protein 1							202	204	203					6																	76022446		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76022446C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3102G>A	6.37:g.76022446C>T						FILIP1_ENST00000237172.7_Silent_p.R1034R|FILIP1_ENST00000370020.1_Silent_p.R935R|FILIP1_ENST00000498523.1_5'UTR	p.R1034R			Q7Z7B0	FLIP1_HUMAN			5	3323	-			1034					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.3102G>A	CCDS4984.1																																																																																				0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		84	844	0	0	0	1	0	84	844					T	76022446	C	T	76022446	2	4	59	1	0	0	0	0	0	0	0	1	5919	842	30	2		2	FILIP1	6	76022446	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6355832	76022446	95092621	44	7153											
IMPG1	3617	broad.mit.edu	37	chr6	76751711	76751711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgcggatctttttgttCgatgctttgccaaatcgaat	8	7	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76751711C>T	ENST00000369950.3	-	2	389	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTTTTTGTTCGATGCTTTGC	0.363																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(199-201)cGa>cAa		interphotoreceptor matrix proteoglycan 1							162	154	156					6																	76751711		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751711C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.200G>A	6.37:g.76751711C>T	ENSP00000358966:p.Arg67Gln					IMPG1_ENST00000369963.3_Intron	p.R67Q	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	389	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	67						Missense_Mutation	SNP	ENST00000369950.3	37	c.200G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115017	0.94339	.	.	ENSG00000112706	ENST00000369950	T	0.79554	-1.28	6.07	5.21	0.72293	.	0.125602	0.36591	N	0.002519	D	0.88012	0.6323	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89237	0.3581	9	.	.	.	.	15.5075	0.75753	0.0:0.9339:0.0:0.0661	.	67	Q17R60	IMPG1_HUMAN	Q	67	ENSP00000358966:R67Q	.	R	-	2	0	IMPG1	76808431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.573000	0.53856	1.581000	0.49865	0.655000	0.94253	CGA		0.363	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		35	459	0	0	0	1	0	35	459					T	76751711	C	T	76751711	3	4	59	1	0	0	0	0	1	0	0	0	7758	884	31	1	2257	1	IMPG1	6	76751711	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	729265	76751711	94363356	45	7154											
HOXA7	3204	broad.mit.edu	37	chr7	27196029	27196029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaacggtcgaggcgaaggCgccggcgcccgccccgtagc	17	16	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:27196029C>T	ENST00000242159.3	-	1	269	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622																																						ENST00000242159.3																			2	Substitution - Missense(2)	p.A46P(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(136-138)Gcc>Acc		homeobox A7							36	49	44					7																	27196029		2195	4297	6492	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196029C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.136G>A	7.37:g.27196029C>T	ENSP00000242159:p.Ala46Thr						p.A46T	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	269	-			46					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.136G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535342	0.45176	.	.	ENSG00000122592	ENST00000242159	T	0.32272	1.46	5.32	4.45	0.53987	.	0.191100	0.45867	D	0.000333	T	0.23410	0.0566	L	0.58810	1.83	0.46478	D	0.999069	P	0.40834	0.73	B	0.23150	0.044	T	0.10019	-1.0648	10	0.66056	D	0.02	.	10.1261	0.42649	0.0:0.7917:0.136:0.0722	.	46	P31268	HXA7_HUMAN	T	46	ENSP00000242159:A46T	ENSP00000242159:A46T	A	-	1	0	HOXA7	27162554	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.973000	0.49264	1.400000	0.46741	-0.215000	0.12644	GCC		0.622	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			120	434	0	0	0	1	0	120	434					T	27196029	C	T	27196029	3	4	59	1	0	0	0	0	1	0	0	0	7327	768	27	1	564	1	HOXA7	7	27196029	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		27196029	131942634	46	7155											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C													cgccctgggccccggcgctgINSccccctttgcccccctgcag							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		10	88						10	88	---	---	---	---	C	44805119	-	C	44805118	7	5	59	1	0	1	1	0	0	0	0	0	17750	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	17609089	44805118	114333545	47	7156											
SRCRB4D	136853	broad.mit.edu	37	chr7	76028102	76028102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttgttgggggctgcGttggcaagaattctggaaag	14	7	2	1	rs376295317	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:76028102G>A	ENST00000275560.3	-	5	835	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.T163M(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGGGCTGCGTTGGCAAGAA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18746	0.0		0.0	False		,,,				2504	0.002					ENST00000275560.3																			1	Substitution - Missense(1)	p.T163M(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(487-489)aCg>aTg		scavenger receptor cysteine rich domain containing, group B (4 domains)		G	,MET/THR	0,4406		0,0,2203	241	226	231		,488	3.5	1	7		231	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ZP3,SRCRB4D	NM_007155.5,NM_080744.1	,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,possibly-damaging	,163/576	76028102	1,13005	2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76028102G>A																												ENST00000275560.3:c.488C>T	7.37:g.76028102G>A	ENSP00000275560:p.Thr163Met					ZP3_ENST00000336517.4_Intron	p.T163M	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			5	835	-			163						Missense_Mutation	SNP	ENST00000275560.3	37	c.488C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079291	0.55753	0.0	1.16E-4	ENSG00000146700	ENST00000275560	T	0.52295	0.67	3.46	3.46	0.39613	Speract/scavenger receptor-related (1);	2.688840	0.01849	N	0.035814	T	0.56934	0.2019	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.49528	0.614	T	0.56842	-0.7912	10	0.33141	T	0.24	.	10.7933	0.46445	0.0:0.0:1.0:0.0	.	163	Q8WTU2	SRB4D_HUMAN	M	163	ENSP00000275560:T163M	ENSP00000275560:T163M	T	-	2	0	SRCRB4D	75866038	0.997000	0.39634	0.955000	0.39395	0.914000	0.54420	4.022000	0.57203	2.268000	0.75426	0.306000	0.20318	ACG		0.507	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			60	822	0	0	0	1	0	60	822					A	76028102	G	A	76028102	3	1	59	1	0	0	0	0	1	0	0	0	15189	1145	40	1	1267	1	SRCRB4D	7	76028102	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	31222984	76028102	83110561	48	7157											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-													ttttgtcttcaggggttggcTttttttcttctaggagtggc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				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						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241	235	237					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	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.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	1670						8	1670	---	---	---	---	-	82595385	T	-	82595385	7	5	59	1	0	1	0	1	0	0	0	0	11625	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-FZ-5921-01A-11D-1609-08	6567283	82595385	76543278	49	7158											
ABCB4	5244	broad.mit.edu	37	chr7	87035608	87035608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactctttaacttacgtggGgtaacgtctcgatgaaagga	10	8	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:87035608G>A	ENST00000265723.4	-	26	3614	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1168	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		P -> S (in GBD1). {ECO:0000269|PubMed:11313316, ECO:0000269|PubMed:12891548}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTTACGTGGGGTAACGTCTC	0.398																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3502-3504)cCc>cTc		ATP-binding cassette, sub-family B (MDR/TAP), member 4							131	124	126					7																	87035608		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035608G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3503C>T	7.37:g.87035608G>A	ENSP00000265723:p.Pro1168Leu					ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L	p.P1168L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			26	3614	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1168		P -> S (in GBD1).	ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3503C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771837	0.69992	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96134	0.8740	M	0.77820	2.39	0.80722	D	1	D;P;P	0.76494	0.999;0.932;0.945	D;P;D	0.74348	0.983;0.878;0.926	D	0.96163	0.9117	10	0.87932	D	0	-12.8072	19.7602	0.96311	0.0:0.0:1.0:0.0	.	1114;1161;1168	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	L	1161;1114;1168;1114;1161	ENSP00000352135:P1161L;ENSP00000351172:P1114L;ENSP00000265723:P1168L;ENSP00000392983:P1114L;ENSP00000437465:P1161L	ENSP00000265723:P1168L	P	-	2	0	ABCB4	86873544	1.000000	0.71417	0.907000	0.35723	0.149000	0.21700	9.677000	0.98645	2.756000	0.94617	0.557000	0.71058	CCC		0.398	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		9	719	0	0	0	1	0	9	719					A	87035608	G	A	87035608	3	1	59	1	0	0	0	0	1	0	0	0	43	1232	43	2	369	2	ABCB4	7	87035608	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4440223	87035608	72103055	50	7159											
TES	26136	broad.mit.edu	37	chr7	115891866	115891866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacccagccatctatgCcgaaagggctggctatgata	12	10	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:115891866C>T	ENST00000358204.4	+	5	970	c.755C>T	c.(754-756)gCc>gTc	p.A252V	TES_ENST00000393481.2_Missense_Mutation_p.A243V|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Missense_Mutation_p.A10V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	252	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCCATCTATGCCGAAAGGGCT	0.463																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(754-756)gCc>gTc		testis derived transcript (3 LIM domains)							147	144	145					7																	115891866		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115891866C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.755C>T	7.37:g.115891866C>T	ENSP00000350937:p.Ala252Val					AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.A243V|TES_ENST00000537767.1_Missense_Mutation_p.A10V|AC002066.1_ENST00000446355.2_RNA	p.A252V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	970	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	252			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.755C>T	CCDS5763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.167171|5.167171	0.94768|0.94768	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481|ENST00000393484	D;T;D|.	0.86562|.	-2.14;0.59;-2.14|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Zinc finger, LIM-type (5);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.83718|0.83718	0.5315|0.5315	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.85379|0.85379	0.1118|0.1118	10|5	0.87932|.	D|.	0|.	-14.4227|-14.4227	19.3336|19.3336	0.94306|0.94306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	252|.	Q9UGI8|.	TES_HUMAN|.	V|S	252;10;252;243|39	ENSP00000350937:A252V;ENSP00000441607:A10V;ENSP00000377121:A243V|.	ENSP00000257721:A252V|.	A|P	+|+	2|1	0|0	TES|TES	115679102|115679102	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.782000|0.782000	0.44232|0.44232	7.422000|7.422000	0.80217|0.80217	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.463	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		87	596	0	0	0	1	0	87	596					T	115891866	C	T	115891866	3	4	59	1	0	0	0	0	1	0	0	0	15817	739	26	2	773	2	TES	7	115891866	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	28856258	115891866	43246797	51	7160											
SMO	6608	broad.mit.edu	37	chr7	128850261	128850261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcccatccctgactgtgaGatcaagaatcgcccgagcct	9	15	1	3	rs267601281		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:128850261G>T	ENST00000249373.3	+	9	1804	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	508					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGACTGTGAGATCAAGAATC	0.552			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1522-1524)gaG>gaT		smoothened, frizzled family receptor							125	108	114					7																	128850261		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128850261G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1524G>T	7.37:g.128850261G>T	ENSP00000249373:p.Glu508Asp		OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1568	RP11-286H14.8_ENST00000466717.1_RNA	p.E508D	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			9	1804	+			508					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1524G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507446	0.44558	.	.	ENSG00000128602	ENST00000249373	T	0.79141	-1.24	5.73	2.71	0.32032	.	0.199087	0.53938	D	0.000060	T	0.66645	0.2810	L	0.28115	0.83	0.41067	D	0.985423	B;P	0.39576	0.425;0.679	B;B	0.44315	0.315;0.446	T	0.57441	-0.7811	10	0.25751	T	0.34	.	7.9167	0.29822	0.1061:0.0:0.7622:0.1317	.	508;508	A4D1K5;Q99835	.;SMO_HUMAN	D	508	ENSP00000249373:E508D	ENSP00000249373:E508D	E	+	3	2	SMO	128637497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.677000	0.54619	0.250000	0.21479	0.511000	0.50034	GAG		0.552	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		74	378	1	0	3.31162e-33	1	3.53387e-33	74	378					T	128850261	G	T	128850261	3	4	59	1	0	0	0	0	1	0	0	0	14850	933	33	3	1558	3	SMO	7	128850261	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	12958395	128850261	30288402	52	7161											
KIAA1147	57189	broad.mit.edu	37	chr7	141385395	141385395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctccacgggcatgttgGcaaagcaggccaggccgaag	14	13	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:141385395G>A	ENST00000536163.1	-	3	409	c.410C>T	c.(409-411)gCc>gTc	p.A137V	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	137										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGGCATGTTGGCAAAGCAGGC	0.537																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(409-411)gCc>gTc		KIAA1147							76	78	78					7																	141385395		2048	4178	6226	SO:0001583	missense	57189							g.chr7:141385395G>A	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.410C>T	7.37:g.141385395G>A	ENSP00000445768:p.Ala137Val					KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	p.A137V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			3	409	-	Melanoma(164;0.0171)		137					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.410C>T	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102202	0.76983	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.21545	0.675	0.80722	D	1	P	0.40515	0.719	B	0.35182	0.197	T	0.28586	-1.0039	9	0.30078	T	0.28	-20.5547	17.3898	0.87427	0.0:0.0:1.0:0.0	.	137	A4D1U4	LCHN_HUMAN	V	137;46	.	ENSP00000297761:A137V	A	-	2	0	KIAA1147	141031864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.565000	0.73974	2.329000	0.79093	0.591000	0.81541	GCC		0.537	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			5	370	0	0	0	1	0	5	370					A	141385395	G	A	141385395	3	1	59	1	0	0	0	0	1	0	0	0	8240	1203	42	2	985	2	KIAA1147	7	141385395	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	12535134	141385395	17753268	53	7162											
RP1L1	94137	broad.mit.edu	37	chr8	10469289	10469289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggggaggtatgggggcCggcgagcatgtcctggaccc	20	9	0	0	rs376509567		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:10469289C>T	ENST00000382483.3	-	4	2542	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	773					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)		GTATGGGGGCCGGCGAGCATG	0.662																																						ENST00000382483.3																			0				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						c.(2317-2319)ccG>ccA		retinitis pigmentosa 1-like 1		C		1,3899		0,1,1949	51	58	56		2319	-8.8	0	8		56	10,8256		1,8,4124	no	coding-synonymous	RP1L1	NM_178857.5		1,9,6073	TT,TC,CC		0.121,0.0256,0.0904		773/2401	10469289	11,12155	1950	4133	6083	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469289C>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.2319G>A	8.37:g.10469289C>T							p.P773P	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2542	-			773					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2319G>A	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			86	527	0	0	0	1	0	86	527					T	10469289	C	T	10469289	2	4	59	1	0	0	0	0	0	0	0	1	13583	639	23	1		1	RP1L1	8	10469289	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		10469289	135894733	54	7163											
GFRA2	2675	broad.mit.edu	37	chr8	21560393	21560393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatctggcaaagaaggcGtcttctccacccgaggggcc	13	13	4	1	rs375798460		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:21560393G>A	ENST00000524240.1	-	7	1792	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	381					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAAAGAAGGCGTCTTCTCCAC	0.627																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(1141-1143)aCg>aTg		GDNF family receptor alpha 2							81	89	86					8																	21560393		2073	4191	6264	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21560393G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1142C>T	8.37:g.21560393G>A	ENSP00000428518:p.Thr381Met					GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	1792	-			381					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.1142C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604221	0.28534	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.32988	1.86;1.43;1.86;1.43;1.43	4.88	3.96	0.45880	.	0.540971	0.19628	N	0.109751	T	0.21103	0.0508	L	0.54323	1.7	0.34083	D	0.659752	P;P;B	0.39352	0.621;0.669;0.154	B;B;B	0.24006	0.05;0.046;0.01	T	0.38478	-0.9659	10	0.56958	D	0.05	0.0037	5.9009	0.18965	0.1161:0.1944:0.6895:0.0	.	248;276;381	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	M	381;276;381;248;276	ENSP00000428518:T381M;ENSP00000383592:T276M;ENSP00000429445:T381M;ENSP00000429206:T248M;ENSP00000429979:T276M	ENSP00000383592:T276M	T	-	2	0	GFRA2	21604673	0.909000	0.30893	0.610000	0.28997	0.771000	0.43674	1.310000	0.33551	1.109000	0.41680	0.561000	0.74099	ACG		0.627	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		17	76	0	0	0	1	0	17	76					A	21560393	G	A	21560393	3	1	59	1	0	0	0	0	1	0	0	0	6377	1145	40	1	264	1	GFRA2	8	21560393	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	11091104	21560393	124803629	55	7164											
ZFHX4	79776	broad.mit.edu	37	chr8	77767609	77767609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgacgccaccaccggagacGagggaaacactgaaatggaa	13	10	0	3	rs370973272		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:77767609G>A	ENST00000521891.2	+	10	8900	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCGGAGACGAGGGAAACAC	0.478										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8452-8454)Gag>Aag		zinc finger homeobox 4							52	52	52					8																	77767609		1954	4151	6105	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767609G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8452G>A	8.37:g.77767609G>A	ENSP00000430497:p.Glu2818Lys	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K	p.E2818K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8900	+			2773					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8452G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408350	0.42715	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60797	0.16;0.23;0.2;0.19	4.98	4.98	0.66077	.	0.000000	0.44688	U	0.000422	T	0.72827	0.3509	L	0.55990	1.75	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.79784	0.984;0.993;0.993	T	0.74881	-0.3513	10	0.66056	D	0.02	.	18.4359	0.90646	0.0:0.0:1.0:0.0	.	2773;2773;2818	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2818;2802;2773;2773;2792	ENSP00000430497:E2818K;ENSP00000399605:E2773K;ENSP00000050961:E2773K;ENSP00000430848:E2792K	ENSP00000050961:E2773K	E	+	1	0	ZFHX4	77930164	1.000000	0.71417	0.847000	0.33407	0.187000	0.23431	9.657000	0.98554	2.588000	0.87417	0.561000	0.74099	GAG		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		32	180	0	0	0	1	0	32	180					A	77767609	G	A	77767609	3	1	59	1	0	0	0	0	1	0	0	0	17688	1059	37	1	8486	1	ZFHX4	8	77767609	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	56207216	77767609	68596413	56	7165											
DMRT3	58524	broad.mit.edu	37	chr9	990182	990182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagagccctgagatagtgtCcgtggaggaagggggatacg	18	6	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990182C>T	ENST00000190165.2	+	2	634	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	199					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGATAGTGTCCGTGGAGGAA	0.562																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)tCc>tTc		doublesex and mab-3 related transcription factor 3							55	61	59					9																	990182		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990182C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.596C>T	9.37:g.990182C>T	ENSP00000190165:p.Ser199Phe						p.S199F	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	634	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	199					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.596C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777198	0.31411	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.34859	1.34;1.34	4.83	4.83	0.62350	.	0.641499	0.15958	N	0.236396	T	0.39517	0.1081	M	0.64997	1.995	0.38581	D	0.950197	P	0.34837	0.472	B	0.30495	0.116	T	0.50923	-0.8770	10	0.72032	D	0.01	-14.6031	17.9127	0.88939	0.0:1.0:0.0:0.0	.	199	Q9NQL9	DMRT3_HUMAN	F	199;62	ENSP00000190165:S199F;ENSP00000387472:S62F	ENSP00000190165:S199F	S	+	2	0	DMRT3	980182	1.000000	0.71417	0.239000	0.24122	0.159000	0.22180	7.088000	0.76901	2.233000	0.73108	0.557000	0.71058	TCC		0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		27	326	0	0	0	1	0	27	326					T	990182	C	T	990182	3	4	59	1	0	0	0	0	1	0	0	0	4603	855	30	2	602	2	DMRT3	9	990182	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		990182	140223249	57	7166			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990458	990458	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccttctgtccagccgatcctCagtcacgggagcagagcgaa	11	14	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990458C>G	ENST00000190165.2	+	2	910	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	291					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCGATCCTCAGTCACGGGA	0.582																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(871-873)tCa>tGa		doublesex and mab-3 related transcription factor 3							102	91	95					9																	990458		2203	4300	6503	SO:0001587	stop_gained	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990458C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.872C>G	9.37:g.990458C>G	ENSP00000190165:p.Ser291*						p.S291*	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	910	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	291					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Nonsense_Mutation	SNP	ENST00000190165.2	37	c.872C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694850	0.48202	.	.	ENSG00000064218	ENST00000190165	.	.	.	4.82	4.82	0.62117	.	0.460395	0.21960	N	0.066615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-24.3423	17.9156	0.88948	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000190165:S291X	S	+	2	0	DMRT3	980458	1.000000	0.71417	0.030000	0.17652	0.094000	0.18550	7.063000	0.76714	2.234000	0.73211	0.455000	0.32223	TCA		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		26	368	0	0	0	1	0	26	368					G	990458	C	G	990458	4	3	59	1	0	0	0	0	0	1	0	0	4603	838	29	5	878	5	DMRT3	9	990458	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	276	990458	140222973	58	7167			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990482	990482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgggagcagagcgaacttCcgcagaacctgagagtctag	13	11	1	3	rs373516356		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990482C>T	ENST00000190165.2	+	2	934	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGCGAACTTCCGCAGAACCT	0.577																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(895-897)tCc>tTc		doublesex and mab-3 related transcription factor 3		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	112	99	103		896	3.5	0	9		103	0,8600		0,0,4300	no	missense	DMRT3	NM_021240.2	155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	299/473	990482	1,13005	2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990482C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.896C>T	9.37:g.990482C>T	ENSP00000190165:p.Ser299Phe						p.S299F	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	934	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	299					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.896C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	c	2.822	-0.244583	0.05906	2.27E-4	0.0	ENSG00000064218	ENST00000190165	T	0.27104	1.69	4.45	3.55	0.40652	.	0.993291	0.08178	N	0.985908	T	0.20820	0.0501	N	0.19112	0.55	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.31861	-0.9928	10	0.72032	D	0.01	-2.1377	14.5068	0.67758	0.0:0.8522:0.1478:0.0	.	299	Q9NQL9	DMRT3_HUMAN	F	299	ENSP00000190165:S299F	ENSP00000190165:S299F	S	+	2	0	DMRT3	980482	0.162000	0.22906	0.001000	0.08648	0.003000	0.03518	4.314000	0.59166	0.883000	0.36040	-0.371000	0.07208	TCC		0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		25	350	0	0	0	1	0	25	350					T	990482	C	T	990482	3	4	59	1	0	0	0	0	1	0	0	0	4603	855	30	2	902	2	DMRT3	9	990482	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	24	990482	140222949	59	7168			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990525	990525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgccctccaatgggcacatCtttgaacacaccttgagctc	7	14	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990525C>G	ENST00000190165.2	+	2	977	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATGGGCACATCTTTGAACACA	0.557																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(937-939)atC>atG		doublesex and mab-3 related transcription factor 3							132	114	120					9																	990525		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990525C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.939C>G	9.37:g.990525C>G	ENSP00000190165:p.Ile313Met						p.I313M	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	977	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	313					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.939C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068464	0.20067	.	.	ENSG00000064218	ENST00000190165	T	0.23552	1.9	4.95	2.77	0.32553	.	0.371972	0.27941	N	0.017240	T	0.10981	0.0268	N	0.14661	0.345	0.24954	N	0.991776	P	0.34780	0.468	B	0.27500	0.08	T	0.14504	-1.0470	10	0.34782	T	0.22	-14.782	5.6081	0.17391	0.0:0.4703:0.3855:0.1441	.	313	Q9NQL9	DMRT3_HUMAN	M	313	ENSP00000190165:I313M	ENSP00000190165:I313M	I	+	3	3	DMRT3	980525	1.000000	0.71417	0.978000	0.43139	0.338000	0.28826	1.290000	0.33319	1.054000	0.40438	0.561000	0.74099	ATC		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		11	303	0	0	0	1	0	11	303					G	990525	C	G	990525	3	3	59	1	0	0	0	0	1	0	0	0	4603	903	32	5	945	5	DMRT3	9	990525	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	43	990525	140222906	60	7169			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990557	990557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagctcctaccccatctCgtcttccaaatggtctgtgg	8	14	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990557C>T	ENST00000190165.2	+	2	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	324					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(970-972)tCg>tTg		doublesex and mab-3 related transcription factor 3							123	110	114					9																	990557		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990557C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.971C>T	9.37:g.990557C>T	ENSP00000190165:p.Ser324Leu						p.S324L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1009	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	324					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.971C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332984	0.81801	.	.	ENSG00000064218	ENST00000190165	T	0.25414	1.8	4.95	4.95	0.65309	.	0.198940	0.45126	D	0.000386	T	0.42154	0.1190	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.36625	-0.9740	10	0.62326	D	0.03	-34.3234	18.2198	0.89898	0.0:1.0:0.0:0.0	.	324	Q9NQL9	DMRT3_HUMAN	L	324	ENSP00000190165:S324L	ENSP00000190165:S324L	S	+	2	0	DMRT3	980557	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.095000	0.76952	2.308000	0.77769	0.561000	0.74099	TCG		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		15	336	0	0	0	1	0	15	336					T	990557	C	T	990557	3	4	59	1	0	0	0	0	1	0	0	0	4603	893	31	1	977	1	DMRT3	9	990557	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	32	990557	140222874	61	7170			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990581	990581	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccaaatggtctgtgggatCagcctttcgagtcccagaca	10	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990581C>T	ENST00000190165.2	+	2	1033	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	332					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCTGTGGGATCAGCCTTTCGA	0.572																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(994-996)tCa>tTa		doublesex and mab-3 related transcription factor 3							116	105	109					9																	990581		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990581C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.995C>T	9.37:g.990581C>T	ENSP00000190165:p.Ser332Leu						p.S332L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1033	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	332					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.995C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360166	0.61403	.	.	ENSG00000064218	ENST00000190165	T	0.26223	1.75	4.95	4.95	0.65309	.	0.075406	0.56097	D	0.000040	T	0.24509	0.0594	L	0.32530	0.975	0.54753	D	0.999983	D	0.53151	0.958	B	0.42386	0.386	T	0.03202	-1.1061	10	0.51188	T	0.08	-22.4322	18.2198	0.89898	0.0:1.0:0.0:0.0	.	332	Q9NQL9	DMRT3_HUMAN	L	332	ENSP00000190165:S332L	ENSP00000190165:S332L	S	+	2	0	DMRT3	980581	1.000000	0.71417	0.254000	0.24359	0.960000	0.62799	5.393000	0.66279	2.308000	0.77769	0.561000	0.74099	TCA		0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		16	377	0	0	0	1	0	16	377					T	990581	C	T	990581	3	4	59	1	0	0	0	0	1	0	0	0	4603	838	29	2	1001	2	DMRT3	9	990581	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	24	990581	140222850	62	7171			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990814	990814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggtcccagtatgtcagtCctttccccagtaactctacc	7	14	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990814C>T	ENST00000190165.2	+	2	1266	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	410					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTATGTCAGTCCTTTCCCCAG	0.582																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1228-1230)Cct>Tct		doublesex and mab-3 related transcription factor 3							83	61	69					9																	990814		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990814C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1228C>T	9.37:g.990814C>T	ENSP00000190165:p.Pro410Ser						p.P410S	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1266	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	410					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1228C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786377	0.70337	.	.	ENSG00000064218	ENST00000190165	T	0.28454	1.61	5.33	4.41	0.53225	.	0.064446	0.64402	D	0.000006	T	0.45597	0.1350	L	0.32530	0.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.47736	-0.9094	10	0.72032	D	0.01	-13.425	15.8593	0.79009	0.0:0.8641:0.1359:0.0	.	410	Q9NQL9	DMRT3_HUMAN	S	410	ENSP00000190165:P410S	ENSP00000190165:P410S	P	+	1	0	DMRT3	980814	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.257000	0.78362	1.209000	0.43321	0.655000	0.94253	CCT		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		23	179	0	0	0	1	0	23	179					T	990814	C	T	990814	3	4	59	1	0	0	0	0	1	0	0	0	4603	855	30	2	1234	2	DMRT3	9	990814	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	233	990814	140222617	63	7172			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990923	990923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgggtgtccatttgtgtCaaagcagtccatttacaccg	10	9	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990923C>T	ENST00000190165.2	+	2	1375	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	446					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCATTTGTGTCAAAGCAGTCC	0.527																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1336-1338)tCa>tTa		doublesex and mab-3 related transcription factor 3							91	89	90					9																	990923		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990923C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1337C>T	9.37:g.990923C>T	ENSP00000190165:p.Ser446Leu						p.S446L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1375	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	446					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1337C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282623	0.40394	.	.	ENSG00000064218	ENST00000190165	T	0.24723	1.84	5.22	5.22	0.72569	.	0.558234	0.17930	N	0.157210	T	0.14743	0.0356	N	0.08118	0	0.24841	N	0.992468	B	0.17038	0.02	B	0.14023	0.01	T	0.13255	-1.0516	10	0.51188	T	0.08	-2.7083	12.1775	0.54194	0.0:0.922:0.0:0.078	.	446	Q9NQL9	DMRT3_HUMAN	L	446	ENSP00000190165:S446L	ENSP00000190165:S446L	S	+	2	0	DMRT3	980923	0.995000	0.38212	0.061000	0.19648	0.891000	0.51852	4.428000	0.59894	2.424000	0.82194	0.655000	0.94253	TCA		0.527	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		32	392	0	0	0	1	0	32	392					T	990923	C	T	990923	3	4	59	1	0	0	0	0	1	0	0	0	4603	838	29	2	1343	2	DMRT3	9	990923	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	109	990923	140222508	64	7173			1	12		9	9	799	C		2.438933e-25
DMRT3	58524	broad.mit.edu	37	chr9	990980	990980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggtctgactcctcagactCtagaacactcaacacatcat	6	13	5	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1393-1395)tCt>tGt		doublesex and mab-3 related transcription factor 3							109	108	109					9																	990980		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990980C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1394C>G	9.37:g.990980C>G	ENSP00000190165:p.Ser465Cys						p.S465C	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1432	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	465					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1394C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310284	0.60414	.	.	ENSG00000064218	ENST00000190165	T	0.37235	1.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55573	-0.8120	10	0.87932	D	0	-22.0637	18.7972	0.91999	0.0:1.0:0.0:0.0	.	465	Q9NQL9	DMRT3_HUMAN	C	465	ENSP00000190165:S465C	ENSP00000190165:S465C	S	+	2	0	DMRT3	980980	1.000000	0.71417	0.942000	0.38095	0.693000	0.40251	7.253000	0.78320	2.424000	0.82194	0.655000	0.94253	TCT		0.512	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		44	563	0	0	0	1	0	44	563					G	990980	C	G	990980	3	3	59	1	0	0	0	0	1	0	0	0	4603	913	32	5	1400	5	DMRT3	9	990980	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	57	990980	140222451	65	7174			1	12		9	9	799	C		2.438933e-25
GPR21	2844	broad.mit.edu	37	chr9	125797765	125797765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtaatttatagtctctCcaacagtgtattccaaagag	7	8	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:125797765C>T	ENST00000373642.1	+	1	960	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	307					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATAGTCTCTCCAACAGTGTA	0.473																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(919-921)tCc>tTc		G protein-coupled receptor 21							89	88	89					9																	125797765		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797765C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.920C>T	9.37:g.125797765C>T	ENSP00000362746:p.Ser307Phe					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	p.S307F	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	960	+			307					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.920C>T	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891884	0.72524	.	.	ENSG00000188394	ENST00000373642	T	0.35048	1.33	6.03	6.03	0.97812	.	0.077453	0.52532	U	0.000075	T	0.48484	0.1502	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.13575	-1.0504	10	0.08837	T	0.75	-15.6727	20.5568	0.99304	0.0:1.0:0.0:0.0	.	307	Q99679	GPR21_HUMAN	F	307	ENSP00000362746:S307F	ENSP00000362746:S307F	S	+	2	0	GPR21	124837586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCC		0.473	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		58	327	0	0	0	1	0	58	327					T	125797765	C	T	125797765	3	4	59	1	0	0	0	0	1	0	0	0	6710	855	30	2	922	2	GPR21	9	125797765	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	124806785	125797765	15415666	66	7175											
CRB2	286204	broad.mit.edu	37	chr9	126133673	126133673	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcacgtgggtgggaggcTccttgctgccgacagccagc	16	13	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:126133673T>A	ENST00000373631.3	+	8	2253	c.2252T>A	c.(2251-2253)cTc>cAc	p.L751H	CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	751	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGGAGGCTCCTTGCTGCC	0.682																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2251-2253)cTc>cAc		crumbs homolog 2 (Drosophila)							58	62	60					9																	126133673		2203	4299	6502	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133673T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2252T>A	9.37:g.126133673T>A	ENSP00000362734:p.Leu751His					CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	p.L751H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2253	+			751			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2252T>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	9.374	1.071371	0.20147	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79940	-1.32;-1.32;-1.32	4.92	-6.47	0.01902	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	2.093540	0.02225	N	0.064321	T	0.70954	0.3283	L	0.57536	1.79	0.09310	N	1	B;B	0.28933	0.085;0.228	B;B	0.26969	0.023;0.075	T	0.53767	-0.8392	10	0.18276	T	0.48	.	4.9666	0.14094	0.0919:0.4228:0.2781:0.2072	.	751;751	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	751;751;419	ENSP00000353092:L751H;ENSP00000362734:L751H;ENSP00000362732:L419H	ENSP00000353092:L751H	L	+	2	0	CRB2	125173494	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.114000	0.15520	-1.186000	0.02713	-0.376000	0.06991	CTC		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		45	443	0	0	0	1	0	45	443					A	126133673	T	A	126133673	3	1	59	1	0	0	0	0	1	0	0	0	3858	1551	54	5	2282	5	CRB2	9	126133673	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	335908	126133673	15079758	67	7176											
PRKCQ	5588	broad.mit.edu	37	chr10	6557092	6557092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaatccgaagaaatggCgacatggttgcgccctggaa	12	10	0	1	rs201768145		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:6557092C>T	ENST00000263125.5	-	2	105	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRKCQ_ENST00000397176.2_Silent_p.S2S|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GAAGAAATGGCGACATGGTTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19940	0.0		0.0	False		,,,				2504	0.001				Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(4-6)tcG>tcA		protein kinase C, theta							64	66	65					10																	6557092		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6557092C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.6G>A	10.37:g.6557092C>T						PRKCQ_ENST00000397176.2_Silent_p.S2S|PRKCQ_ENST00000539722.1_5'UTR	p.S2S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			2	105	-			2					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.6G>A	CCDS7079.1																																																																																				0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		21	244	0	0	0	1	0	21	244					T	6557092	C	T	6557092	2	4	59	1	0	0	0	0	0	0	0	1	12562	755	27	1		1	PRKCQ	10	6557092	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		6557092	128977655	68	7177											
MCM10	55388	broad.mit.edu	37	chr10	13234464	13234464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagggattatggggagCccaaaaccagccatcaagtc	11	10	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:13234464C>T	ENST00000484800.2	+	13	1747	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000378694.1_Silent_p.S547S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	548					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTATGGGGAGCCCAAAACCAG	0.542																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1639-1641)agC>agT		minichromosome maintenance complex component 10							99	96	97					10																	13234464		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13234464C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1644C>T	10.37:g.13234464C>T						MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000484800.2_Silent_p.S548S	p.S547S			Q7L590	MCM10_HUMAN			12	1716	+			548					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.1641C>T	CCDS7096.1																																																																																				0.542	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		29	322	0	0	0	1	0	29	322					T	13234464	C	T	13234464	2	4	59	1	0	0	0	0	0	0	0	1	9426	738	26	2		2	MCM10	10	13234464	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6677372	13234464	122300283	69	7178											
P4HA1	5033	broad.mit.edu	37	chr10	74770789	74770789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctcctcctgcagacacatCactcatctataagaaacaag	6	13	3	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:74770789C>T	ENST00000307116.2	-	13	1491	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N|P4HA1_ENST00000412021.2_Missense_Mutation_p.D459N			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	459	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGACACATCACTCATCTAT	0.353																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1375-1377)Gat>Aat		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						89	85	86					10																	74770789		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74770789C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1375G>A	10.37:g.74770789C>T	ENSP00000307318:p.Asp459Asn					P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000307116.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N	p.D459N	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			14	1708	-	Prostate(51;0.0198)		459			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1375G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.726004	0.96847	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.57107	0.47;0.5;0.47;0.47;0.5;0.42	5.83	5.83	0.93111	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.69823	2.125	0.80722	D	1	P;P;P	0.45011	0.848;0.828;0.828	P;P;P	0.58577	0.841;0.718;0.718	T	0.72090	-0.4395	10	0.87932	D	0	-19.7994	19.7187	0.96134	0.0:1.0:0.0:0.0	.	441;459;459	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	N	459;459;459;459;459;441	ENSP00000307318:D459N;ENSP00000362099:D459N;ENSP00000411688:D459N;ENSP00000378353:D459N;ENSP00000263556:D459N;ENSP00000414464:D441N	ENSP00000263556:D459N	D	-	1	0	P4HA1	74440795	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.202000	0.77856	2.765000	0.95021	0.555000	0.69702	GAT		0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		30	387	0	0	0	1	0	30	387					T	74770789	C	T	74770789	3	4	59	1	0	0	0	0	1	0	0	0	11398	826	29	2	241	2	P4HA1	10	74770789	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	61536325	74770789	60763958	70	7179											
ZNF503	84858	broad.mit.edu	37	chr10	77161100	77161101	+	In_Frame_Ins	INS	-	-	CCGCCTCCGCCT													tccaggcagggtctgcaccgINSccgcctccgcctccgccgcc					rs533859340|rs374168185	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:77161100_77161101insCCGCCTCCGCCT	ENST00000372524.4	-	1	563_564	c.77_78insAGGCGGAGGCGG	c.(76-78)ggc>ggAGGCGGAGGCGGc	p.26_26G>GGGGG	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_In_Frame_Ins_p.26_26G>GGGGG	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	26	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGTCTGCAccgccgcctccgcc	0.713																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(76-78)ggg>gAGGCGGAGGCGGgg		zinc finger protein 503																																				SO:0001652	inframe_insertion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161100_77161101insCCGCCTCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.66_77dupAGGCGGAGGCGG	10.37:g.77161100_77161101insCCGCCTCCGCCT	ENSP00000361602:p.GlyGlyGlyGly26dup					ZNF503_ENST00000535216.1_In_Frame_Ins_p.25_26insEAEA	p.25_26insEAEA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	563_564	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		25			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Ins	INS	ENST00000372524.4	37	c.77_78insAGGCGGAGGCGG	CCDS7350.1																																																																																				0.713	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		7	25						7	25	---	---	---	---	CCGCCTCCGCCT	77161101	-	CCGCCTCCGCCT	77161100	7	5	59	1	0	1	1	0	0	0	0	0	18004	1074	38	0	1870	0	ZNF503	10	77161100	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	2390311	77161100	58373647	71	7180											
SORCS3	22986	broad.mit.edu	37	chr10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctactacgtgtcttatcGaagagaggcctttgctcaga	10	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418					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)			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)		GTGTCTTATCGAAGAGAGGCC	0.502																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				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						c.(1252-1254)cGa>cAa		sortilin-related VPS10 domain containing receptor 3							186	170	176					10																	106899195		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899195G>A	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.1253G>A	10.37:g.106899195G>A	ENSP00000358715:p.Arg418Gln						p.R418Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	8	1480	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	418					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1253G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008494	0.54361	.	.	ENSG00000156395	ENST00000369701	T	0.32753	1.44	5.66	3.81	0.43845	VPS10 (1);	0.200706	0.43260	D	0.000585	T	0.20047	0.0482	L	0.31207	0.915	0.34890	D	0.745424	B	0.24675	0.109	B	0.17098	0.017	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.0783	0.30729	0.2916:0.0:0.7084:0.0	.	418	Q9UPU3	SORC3_HUMAN	Q	418	ENSP00000358715:R418Q	ENSP00000358715:R418Q	R	+	2	0	SORCS3	106889185	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.674000	0.37544	1.398000	0.46701	0.561000	0.74099	CGA		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		44	473	0	0	0	1	0	44	473					A	106899195	G	A	106899195	3	1	59	1	0	0	0	0	1	0	0	0	14982	1058	37	1	1283	1	SORCS3	10	106899195	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	29738095	106899195	28635552	72	7181											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57088170	57088170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgggcttgacagggggTttggcccgagtgtcacctac	16	9	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:57088170T>G	ENST00000532437.1	-	2	422	c.111A>C	c.(109-111)aaA>aaC	p.K37N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	37	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGACAGGGGGTTTGGCCCGAG	0.622																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(109-111)aaA>aaC		tankyrase 1 binding protein 1, 182kDa							15	18	17					11																	57088170		2185	4277	6462	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088170T>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.111A>C	11.37:g.57088170T>G	ENSP00000437271:p.Lys37Asn					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N	p.K37N			Q9C0C2	TB182_HUMAN			2	422	-		all_epithelial(135;0.21)	37			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.111A>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353826	0.61293	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.57907	0.37;0.37	4.58	0.88	0.19161	.	0.339353	0.21314	N	0.076592	T	0.52484	0.1737	N	0.24115	0.695	0.27584	N	0.949509	D	0.89917	1.0	D	0.87578	0.998	T	0.44937	-0.9295	10	0.45353	T	0.12	-10.6797	7.6681	0.28443	0.0:0.436:0.0:0.564	.	37	Q9C0C2	TB182_HUMAN	N	37	ENSP00000350990:K37N;ENSP00000437271:K37N	ENSP00000350990:K37N	K	-	3	2	TNKS1BP1	56844746	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	0.328000	0.19681	-0.020000	0.14032	0.460000	0.39030	AAA		0.622	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	123	0	0	0	1	0	4	123					G	57088170	T	G	57088170	3	3	59	1	0	0	0	0	1	0	0	0	16372	1722	60	4	5114	4	TNKS1BP1	11	57088170	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08		57088170	77918346	73	7182											
HEPHL1	341208	broad.mit.edu	37	chr11	93836096	93836096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaagtaaaaacttaTagatggaatatccctaaaag	8	5	0	2	rs374558812		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:93836096T>C	ENST00000315765.9	+	15	2600	c.2592T>C	c.(2590-2592)taT>taC	p.Y864Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	864	Plastocyanin-like 5.				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)			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)				TAAAAACTTATAGATGGAATA	0.328																																						ENST00000315765.9																			0				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						c.(2590-2592)taT>taC		hephaestin-like 1		T		0,3576		0,0,1788	56	54	54		2592	2.2	1	11		54	1,8107		0,1,4053	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,5841	CC,CT,TT		0.0123,0.0,0.0086		864/1160	93836096	1,11683	1788	4054	5842	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93836096T>C	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.2592T>C	11.37:g.93836096T>C							p.Y864Y	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			15	2600	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	864			Plastocyanin-like 5.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2592T>C	CCDS44710.1																																																																																				0.328	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		20	197	0	0	0	1	0	20	197					C	93836096	T	C	93836096	2	2	59	1	0	0	0	0	0	0	0	1	7085	1413	49	4		4	HEPHL1	11	93836096	Silent	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	36747926	93836096	41170420	74	7183											
MMP3	4314	broad.mit.edu	37	chr11	102706890	102706890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgttactcttcaaagtGtgtgtcactttctttgcatt	7	9	4	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:102706890G>T	ENST00000299855.5	-	10	1657	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	467					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCTTCAAAGTGTGTGTCACTT	0.358																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1399-1401)caC>caA		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						174	163	167					11																	102706890		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102706890G>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1401C>A	11.37:g.102706890G>T	ENSP00000299855:p.His467Gln					WTAPP1_ENST00000525739.2_RNA	p.H467Q	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	10	1657	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	467			Hemopexin-like 4.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1401C>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040042	0.19669	.	.	ENSG00000149968	ENST00000299855	T	0.02345	4.33	5.14	-4.09	0.03951	Hemopexin/matrixin (2);	0.401678	0.15968	N	0.235915	T	0.01765	0.0056	L	0.31526	0.94	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.42310	-0.9459	10	0.31617	T	0.26	.	3.2725	0.06887	0.3283:0.0957:0.4273:0.1487	.	467	P08254	MMP3_HUMAN	Q	467	ENSP00000299855:H467Q	ENSP00000299855:H467Q	H	-	3	2	MMP3	102212100	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-1.071000	0.03437	-0.464000	0.06963	-0.302000	0.09304	CAC		0.358	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		60	433	1	0	9.61844e-40	1	1.04036e-39	60	433					T	102706890	G	T	102706890	3	4	59	1	0	0	0	0	1	0	0	0	9707	1368	48	3	36	3	MMP3	11	102706890	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	8870794	102706890	32299626	75	7184											
GRIN2B	2904	broad.mit.edu	37	chr12	13768140	13768141	+	Frame_Shift_Ins	INS	-	-	C													cacagagaagtcgaccacctINSccgatcgttcctcattgatg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:13768140_13768141insC	ENST00000609686.1	-	7	1770_1771	c.1561_1562insG	c.(1561-1563)gagfs	p.E521fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	521					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E521K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCGACCACCTCCGATCGTTCC	0.5																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.E521K(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1561-1563)ggtfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768140_13768141insC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1562dupG	12.37:g.13768142_13768142dupC	ENSP00000477455:p.Glu521fs						p.G521fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			7	1770_1771	-			521					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.1561_1562insG	CCDS8662.1																																																																																				0.5	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	362						9	362	---	---	---	---	C	13768141	-	C	13768140	7	5	59	1	0	1	1	0	0	0	0	0	6810	1551	54	0	2920	0	GRIN2B	12	13768140	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08		13768140	120083755	76	7185											
EPS8	2059	broad.mit.edu	37	chr12	15818756	15818756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaacatccacctgggtgaCggtcccagggggcgcagggg	16	12	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:15818756C>T	ENST00000281172.5	-	8	1106	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	224					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCTGGGTGACGGTCCCAGGG	0.502																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(670-672)Gtc>Atc		epidermal growth factor receptor pathway substrate 8							48	50	49					12																	15818756		2203	4300	6503	SO:0001583	missense	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15818756C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.670G>A	12.37:g.15818756C>T	ENSP00000281172:p.Val224Ile					EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	8	1106	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	224					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.670G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709691	0.30322	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223	T;T;T	0.06068	3.35;3.35;3.35	5.35	3.18	0.36537	.	0.312613	0.30311	N	0.009915	T	0.05181	0.0138	L	0.33485	1.01	0.31727	N	0.63755	B	0.09022	0.002	B	0.04013	0.001	T	0.17137	-1.0379	10	0.10377	T	0.69	-13.0094	12.5259	0.56085	0.0:0.7884:0.0:0.2116	.	224	Q12929	EPS8_HUMAN	I	224	ENSP00000441867:V224I;ENSP00000281172:V224I;ENSP00000442388:V224I	ENSP00000281172:V224I	V	-	1	0	EPS8	15710023	0.014000	0.17966	0.329000	0.25429	0.646000	0.38490	0.219000	0.17641	1.247000	0.43917	0.591000	0.81541	GTC		0.502	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			6	397	0	0	0	1	0	6	397					T	15818756	C	T	15818756	3	4	59	1	0	0	0	0	1	0	0	0	5212	536	19	1	1854	1	EPS8	12	15818756	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	2050616	15818756	118033139	77	7186											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	91	1	0	8.00594e-06	1	8.10793e-06	15	91					A	25398284	C	A	25398284	3	1	59	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	9579528	25398284	108453611	78	7187											
SCN8A	6334	broad.mit.edu	37	chr12	52200183	52200183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcgccaaagggattcGtaccctgctctttgccttaa	9	12	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:52200183G>A	ENST00000354534.6	+	27	5091	c.4913G>A	c.(4912-4914)cGt>cAt	p.R1638H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1638					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)			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)	AAAGGGATTCGTACCCTGCTC	0.488																																						ENST00000354534.5																			0				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						c.(4912-4914)cGt>cAt		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						173	182	179					12																	52200183		2189	4297	6486	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.chr12:52200183G>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.4913G>A	12.37:g.52200183G>A	ENSP00000346534:p.Arg1638His					SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	p.R1638H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5091	+			1638					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4913G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342154	0.81911	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98889	-5.21;-5.21	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98503	1.0615	10	0.87932	D	0	.	19.5591	0.95366	0.0:0.0:1.0:0.0	.	1638	Q9UQD0	SCN8A_HUMAN	H	1638;1597	ENSP00000346534:R1638H;ENSP00000440360:R1597H	ENSP00000346534:R1638H	R	+	2	0	SCN8A	50486450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	CGT		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		13	619	0	0	0	1	0	13	619					A	52200183	G	A	52200183	3	1	59	1	0	0	0	0	1	0	0	0	13974	1145	40	1	5015	1	SCN8A	12	52200183	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	26801899	52200183	81651712	79	7188											
NAV3	89795	broad.mit.edu	37	chr12	78513106	78513106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcagatgcaggaaaaAgcagtggagatgaagggaaa	13	6	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:78513106A>G	ENST00000397909.2	+	15	3303	c.3130A>G	c.(3130-3132)Agc>Ggc	p.S1044G	NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1044	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						TGCAGGAAAAAGCAGTGGAGA	0.468										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(3130-3132)Agc>Ggc		neuron navigator 3							98	95	96					12																	78513106		1866	4109	5975	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513106A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3130A>G	12.37:g.78513106A>G	ENSP00000381007:p.Ser1044Gly	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G	p.S1044G			Q8IVL0	NAV3_HUMAN			15	3303	+			1044			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3130A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.777943|4.777943	0.90195|0.90195	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T|T;T;T;T	0.19105|0.29397	2.17|1.57;1.57;1.57;1.57	6.0|6.0	6.0|6.0	0.97389|0.97389	.|.	.|0.000000	.|0.48286	.|U	.|0.000198	T|T	0.55369|0.55369	0.1916|0.1916	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.989;0.999;0.998	.|D;P;D;D	.|0.87578	.|0.998;0.778;0.986;0.987	T|T	0.55535|0.55535	-0.8126|-0.8126	7|10	0.10902|0.54805	T|T	0.67|0.06	-16.7918|-16.7918	16.4953|16.4953	0.84238|0.84238	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1044;1044;1044;1044	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	R|G	115|1044	ENSP00000446644:K115R|ENSP00000446132:S1044G;ENSP00000381007:S1044G;ENSP00000228327:S1044G;ENSP00000266692:S1044G	ENSP00000446644:K115R|ENSP00000228327:S1044G	K|S	+|+	2|1	0|0	NAV3|NAV3	77037237|77037237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.064000|9.064000	0.93933|0.93933	2.287000|2.287000	0.76781|0.76781	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		78	542	0	0	0	1	0	78	542					G	78513106	A	G	78513106	3	3	59	1	0	0	0	0	1	0	0	0	10226	72	3	4	3188	4	NAV3	12	78513106	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	26312923	78513106	55338789	80	7189											
NOS1	4842	broad.mit.edu	37	chr12	117662844	117662844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttggatatcaaattgcCgctgttgccagaagcttcgg	12	8	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:117662844C>T	ENST00000338101.4	-	25	3909	c.3905G>A	c.(3904-3906)cGg>cAg	p.R1302Q	NOS1_ENST00000317775.6_Missense_Mutation_p.R1268Q|NOS1_ENST00000344089.3_3'UTR			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)			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)		ATCAAATTGCCGCTGTTGCCA	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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						c.(3802-3804)cGg>cAg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						147	159	155					12																	117662844		1948	4147	6095	SO:0001583	missense	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.chr12:117662844C>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.3905G>A	12.37:g.117662844C>T	ENSP00000337459:p.Arg1302Gln					NOS1_ENST00000338101.4_Missense_Mutation_p.R1302Q|NOS1_ENST00000344089.3_3'UTR	p.R1268Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4488	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1268						Missense_Mutation	SNP	ENST00000338101.4	37	c.3803G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536793	0.96460	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.84873	-1.91;-1.91	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.94649	0.7837	10	0.56958	D	0.05	-31.3949	18.3244	0.90248	0.0:1.0:0.0:0.0	.	1268	P29475	NOS1_HUMAN	Q	1163;1268;1302	ENSP00000320758:R1268Q;ENSP00000337459:R1302Q	ENSP00000320758:R1268Q	R	-	2	0	NOS1	116147227	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.629000	0.83207	2.555000	0.86185	0.561000	0.74099	CGG		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			116	1115	0	0	0	1	0	116	1115					T	117662844	C	T	117662844	3	4	59	1	0	0	0	0	1	0	0	0	10583	652	23	1	521	1	NOS1	12	117662844	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	39149738	117662844	16189051	81	7190											
GPR133	283383	broad.mit.edu	37	chr12	131621519	131621519	+	Splice_Site	SNP	G	G	T													ttcttccctttcttcccaggGactgttcatattcctctttc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2396G>T	c.(2395-2397)gGa>gTa	p.G799V	GPR133_ENST00000535015.1_Splice_Site_p.G831V|GPR133_ENST00000543617.1_Splice_Site_p.G318V|GPR133_ENST00000376682.4_Splice_Site_p.G485V|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e23-1		G protein-coupled receptor 133							270	217	235					12																	131621519		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621519G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2395-1G>T	12.37:g.131621519G>T						GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice|GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000540207.1_3'UTR	p.G799_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2955	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		799					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.2394_splice	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.528189|3.528189	0.64860|0.64860	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88	4.23|4.23	4.23|4.23	0.50019|0.50019	.|GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93471|0.93471	0.7917|0.7917	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	D|D	0.94887|0.94887	0.8044|0.8044	5|10	.|0.87932	.|D	.|0	.|.	14.4411|14.4411	0.67318|0.67318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|831;152;799	.|B7ZLF7;Q9NSM3;Q6QNK2	.|.;.;GP133_HUMAN	Y|V	153|799;831;485;318	.|ENSP00000261654:G799V;ENSP00000444425:G831V;ENSP00000365872:G485V;ENSP00000438021:G318V	.|ENSP00000261654:G799V	D|G	+|+	1|2	0|0	GPR133|GPR133	130187472|130187472	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.852000|0.852000	0.48524|0.48524	5.786000|5.786000	0.69006|0.69006	2.069000|2.069000	0.61940|0.61940	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.532	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation	13	274	1	0	7.07758e-08	1	7.35513e-08	13	274					T	131621519	G	T	131621519	5	4	59	1	0	0	0	0	0	0	1	0	6672	1188	41	3	2486	3	GPR133	12	131621519	Splice_Site	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	13958675	131621519	2230376	82	7191	51	2									
GPR133	283383	broad.mit.edu	37	chr12	131621523	131621523	+	Silent	SNP	G	G	A													tccctttcttcccagggactGttcatattcctctttcattg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621523G>A	ENST00000261654.5	+	23	2959	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	800					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGGACTGTTCATATTCC	0.527																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2398-2400)ctG>ctA		G protein-coupled receptor 133							269	217	235					12																	131621523		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621523G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2400G>A	12.37:g.131621523G>A						GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000540207.1_3'UTR	p.L800L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2959	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		800					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2400G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	6.887	0.533108	0.13188	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.23	-7.58	0.01313	.	.	.	.	.	T	0.45657	0.1353	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	.	6.2202	0.20677	0.0:0.2893:0.2457:0.4651	.	.	.	.	Y	154	.	.	C	+	2	0	GPR133	130187476	0.305000	0.24481	0.166000	0.22797	0.868000	0.49771	-0.870000	0.04228	-1.565000	0.01676	-0.314000	0.08810	TGT		0.527	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		13	282	0	0	0	1	0	13	282					A	131621523	G	A	131621523	2	1	59	1	0	0	0	0	0	0	0	1	6672	1364	48	2		2	GPR133	12	131621523	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4	131621523	2230372	83	7192	51	2									
GPR133	283383	broad.mit.edu	37	chr12	131621557	131621557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcattgtctcctgaattcaGaggtacgtccgctctgcttg	9	11	4	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621557G>C	ENST00000261654.5	+	23	2993	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	812					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTGAATTCAGAGGTACGTCC	0.532																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2434-2436)Gag>Cag		G protein-coupled receptor 133							200	168	179					12																	131621557		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621557G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2434G>C	12.37:g.131621557G>C	ENSP00000261654:p.Glu812Gln					GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000540207.1_3'UTR	p.E812Q	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2993	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		812					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2434G>C	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989595|3.989595	0.74589|0.74589	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617|ENST00000335486	T;T;T;T|.	0.42131|.	1.23;1.24;0.98;0.98|.	4.23|4.23	4.23|4.23	0.50019|0.50019	GPCR, family 2, secretin-like, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999986|0.999986	D;P;P|.	0.54601|.	0.967;0.757;0.877|.	D;B;P|.	0.64595|.	0.927;0.418;0.661|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.27082|.	T|.	0.32|.	.|.	14.4411|14.4411	0.67318|0.67318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	844;165;812|.	B7ZLF7;Q9NSM3;Q6QNK2|.	.;.;GP133_HUMAN|.	Q|H	812;844;498;331|165	ENSP00000261654:E812Q;ENSP00000444425:E844Q;ENSP00000365872:E498Q;ENSP00000438021:E331Q|.	ENSP00000261654:E812Q|.	E|Q	+|+	1|3	0|2	GPR133|GPR133	130187510|130187510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	5.786000|5.786000	0.69006|0.69006	2.069000|2.069000	0.61940|0.61940	0.561000|0.561000	0.74099|0.74099	GAG|CAG		0.532	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		13	260	0	0	0	1	0	13	260					C	131621557	G	C	131621557	3	2	59	1	0	0	0	0	1	0	0	0	6672	943	33	5	2524	5	GPR133	12	131621557	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	34	131621557	2230338	84	7193											
SACS	26278	broad.mit.edu	37	chr13	23910739	23910739	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattccttcactgattattcGtcggcaaagctgaaaattct	6	9	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:23910739G>A	ENST00000382292.3	-	9	7549	c.7276C>T	c.(7276-7278)Cga>Tga	p.R2426*	SACS_ENST00000382298.3_Nonsense_Mutation_p.R2426*|SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2426					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATTATTCGTCGGCAAAGC	0.333																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7276-7278)Cga>Tga		spastic ataxia of Charlevoix-Saguenay (sacsin)							54	56	55					13																	23910739		2203	4299	6502	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910739G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7276C>T	13.37:g.23910739G>A	ENSP00000371729:p.Arg2426*					SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*|SACS_ENST00000382292.3_Nonsense_Mutation_p.R2426*	p.R2426*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7864	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2426					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.7276C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	55	24.486824	0.99960	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.6	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0493	0.64725	0.0:0.0:0.3574:0.6425	.	.	.	.	X	2426;1676;2426	.	ENSP00000371729:R2426X	R	-	1	2	SACS	22808739	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	3.735000	0.55044	0.560000	0.29169	0.561000	0.74099	CGA		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		51	183	0	0	0	1	0	51	183					A	23910739	G	A	23910739	4	1	59	1	0	0	0	0	0	1	0	0	13854	1153	40	1	6467	1	SACS	13	23910739	Nonsense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		23910739	91259139	85	7194											
AP1G2	8906	broad.mit.edu	37	chr14	24033838	24033838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaggaccgcatttccgGcatttcggctggtgtccgtg	12	12	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:24033838G>A	ENST00000308724.5	-	8	1609	c.854C>T	c.(853-855)gCc>gTc	p.A285V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	285					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGCATTTCCGGCATTTCGGCT	0.547																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(853-855)gCc>gTc		adaptor-related protein complex 1, gamma 2 subunit							127	92	104					14																	24033838		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033838G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.854C>T	14.37:g.24033838G>A	ENSP00000312442:p.Ala285Val					AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1609	-	all_cancers(95;0.000251)		285					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.854C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	3.100	-0.185038	0.06340	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000535852	T;T	0.24908	1.83;1.83	3.98	3.98	0.46160	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.065396	0.64402	D	0.000013	T	0.10809	0.0264	N	0.02854	-0.475	0.46521	D	0.999086	B;B	0.22211	0.034;0.066	B;B	0.36666	0.098;0.23	T	0.19811	-1.0294	10	0.06099	T	0.92	-12.7253	7.4335	0.27141	0.1166:0.0:0.8834:0.0	.	285;140	O75843;Q86V28	AP1G2_HUMAN;.	V	285;285;140	ENSP00000312442:A285V;ENSP00000380309:A285V	ENSP00000312442:A285V	A	-	2	0	AP1G2	23103678	1.000000	0.71417	0.946000	0.38457	0.352000	0.29268	4.440000	0.59975	2.056000	0.61249	0.313000	0.20887	GCC		0.547	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		5	270	0	0	0	1	0	5	270					A	24033838	G	A	24033838	3	1	59	1	0	0	0	0	1	0	0	0	733	1203	42	2	1559	2	AP1G2	14	24033838	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		24033838	83315702	86	7195											
GPR135	64582	broad.mit.edu	37	chr14	59930958	59930958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaggacggtggtggcCgtgcgcacctcgctgaagaa	16	9	0	4			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:59930958C>T	ENST00000395116.1	-	1	1102	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGTGGTGGCCGTGCGCACCT	0.677																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(985-987)acG>acA		G protein-coupled receptor 135							22	23	22					14																	59930958		2197	4291	6488	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930958C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.987G>A	14.37:g.59930958C>T							p.T329T	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1102	-			329					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.987G>A	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	c	10.22	1.291528	0.23564	.	.	ENSG00000181619	ENST00000539022	.	.	.	4.31	-6.35	0.01975	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42548	-0.9445	5	0.23891	T	0.37	-15.0993	5.8628	0.18759	0.1015:0.3092:0.4579:0.1315	.	.	.	.	Q	316	.	ENSP00000444314:R316Q	R	-	2	0	GPR135	59000711	0.000000	0.05858	0.922000	0.36590	0.987000	0.75469	-2.834000	0.00741	-1.210000	0.02627	-0.308000	0.09152	CGG		0.677	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		8	157	0	0	0	1	0	8	157					T	59930958	C	T	59930958	2	4	59	1	0	0	0	0	0	0	0	1	6673	639	23	1		1	GPR135	14	59930958	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	35897120	59930958	47418582	87	7196											
SYT16	83851	broad.mit.edu	37	chr14	62541981	62541981	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacggcacatctcaccaaGagtccagtgtggtccaaagc	9	14	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62541981G>A	ENST00000430451.2	+	3	1062	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SYT16_ENST00000446982.2_Missense_Mutation_p.E289K|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	289					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTCACCAAGAGTCCAGTGT	0.527																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(865-867)Gag>Aag		synaptotagmin XVI							70	71	70					14																	62541981		1992	4177	6169	SO:0001583	missense	83851							g.chr14:62541981G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.865G>A	14.37:g.62541981G>A	ENSP00000394700:p.Glu289Lys					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E289K	p.E289K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1062	+			289					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.865G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026356	0.54683	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.36340	1.26;3.69	5.45	5.45	0.79879	.	0.563265	0.19757	N	0.106752	T	0.50120	0.1597	L	0.58101	1.795	0.29100	N	0.881545	D;B	0.59357	0.985;0.399	P;B	0.54270	0.747;0.15	T	0.42172	-0.9467	10	0.23891	T	0.37	-10.6923	19.4735	0.94973	0.0:0.0:1.0:0.0	.	289;289	B4DZH2;Q17RD7	.;SYT16_HUMAN	K	289	ENSP00000388023:E289K;ENSP00000394700:E289K	ENSP00000394700:E289K	E	+	1	0	SYT16	61611734	1.000000	0.71417	0.017000	0.16124	0.052000	0.14988	6.691000	0.74573	2.836000	0.97738	0.655000	0.94253	GAG		0.527	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		13	227	0	0	0	1	0	13	227					A	62541981	G	A	62541981	3	1	59	1	0	0	0	0	1	0	0	0	15524	943	33	2	875	2	SYT16	14	62541981	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2611023	62541981	44807559	88	7197											
SYT16	83851	broad.mit.edu	37	chr14	62542083	62542083	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaagattcctatgccactGacagctcctccatgtggagt	9	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62542083G>A	ENST00000430451.2	+	3	1164	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SYT16_ENST00000446982.2_Missense_Mutation_p.D323N|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	323					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTATGCCACTGACAGCTCCTC	0.498																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(967-969)Gac>Aac		synaptotagmin XVI							133	130	131					14																	62542083		1910	4115	6025	SO:0001583	missense	83851							g.chr14:62542083G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.967G>A	14.37:g.62542083G>A	ENSP00000394700:p.Asp323Asn					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.D323N	p.D323N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1164	+			323					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.967G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587356	0.86851	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.53857	0.6;3.46	5.41	4.5	0.54988	.	.	.	.	.	T	0.68348	0.2991	L	0.61218	1.895	0.48696	D	0.99969	D;P	0.71674	0.998;0.955	D;P	0.65874	0.939;0.616	T	0.72083	-0.4397	9	0.59425	D	0.04	-10.5917	15.9346	0.79691	0.0:0.1397:0.8603:0.0	.	323;323	B4DZH2;Q17RD7	.;SYT16_HUMAN	N	323	ENSP00000388023:D323N;ENSP00000394700:D323N	ENSP00000394700:D323N	D	+	1	0	SYT16	61611836	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	6.307000	0.72815	1.487000	0.48415	0.655000	0.94253	GAC		0.498	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		40	587	0	0	0	1	0	40	587					A	62542083	G	A	62542083	3	1	59	1	0	0	0	0	1	0	0	0	15524	1290	45	2	977	2	SYT16	14	62542083	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	102	62542083	44807457	89	7198											
AHNAK2	113146	broad.mit.edu	37	chr14	105419058	105419058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgcactttggggccGgctccctcgggcacagggcc	17	14	0	0	rs149453124	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:105419058G>A	ENST00000333244.5	-	7	2849	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	910						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGGCCGGCTCCCTCGG	0.617													.|||	3	0.000599042	0.0023	0.0	5008	,	,		16281	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2728-2730)gcC>gcT		AHNAK nucleoprotein 2		G		3,3691		0,3,1844	132	154	147		2730	-5.7	0	14	dbSNP_134	147	0,8182		0,0,4091	no	coding-synonymous	AHNAK2	NM_138420.2		0,3,5935	AA,AG,GG		0.0,0.0812,0.0253		910/5796	105419058	3,11873	1847	4091	5938	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419058G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2730C>T	14.37:g.105419058G>A						AHNAK2_ENST00000557457.1_Intron	p.A910A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2849	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	910					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2730C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		111	1325	0	0	0	1	0	111	1325					A	105419058	G	A	105419058	2	1	59	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105419058	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	42876975	105419058	1930482	90	7199											
ATP10A	57194	broad.mit.edu	37	chr15	25924728	25924728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggggggtcaccctgccGgtgctggcagctctcacctt	14	14	2	0	rs375852660	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:25924728G>T	ENST00000356865.6	-	21	4371	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1420					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACCCTGCCGGTGCTGGCAG	0.642																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4258-4260)acC>acA		ATPase, class V, type 10A							44	41	42					15																	25924728		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924728G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4260C>A	15.37:g.25924728G>T							p.T1420T	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4371	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1420					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4260C>A	CCDS32178.1																																																																																				0.642	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		56	266	1	0	6.56871e-35	1	7.05693e-35	56	266					T	25924728	G	T	25924728	2	4	59	1	0	0	0	0	0	0	0	1	1117	1103	39	3		3	ATP10A	15	25924728	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		25924728	76606664	91	7200											
ATP8B4	79895	broad.mit.edu	37	chr15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T													aatccaactccagctgctgcINStttttttcacaaactacatg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.K737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2209-2211)acafs		ATPase, class I, type 8B, member 4																																				SO:0001589	frameshift_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50193367_50193368insT	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2211dupA	15.37:g.50193374_50193374dupT	ENSP00000284509:p.Lys737fs					ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	21	2351_2352	-		all_lung(180;0.00183)	737					Q9H727	Frame_Shift_Ins	INS	ENST00000284509.6	37	c.2210_2211insA	CCDS32238.1																																																																																				0.361	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		42	252						42	252	---	---	---	---	T	50193368	-	T	50193367	7	5	59	1	0	1	1	0	0	0	0	0	1198	796	28	0	1399	0	ATP8B4	15	50193367	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	24268639	50193367	52338025	92	7201											
ITGA11	22801	broad.mit.edu	37	chr15	68612671	68612671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagactgtggtgtcgaagGacagcgtgtatgcggagcag	17	6	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:68612671G>A	ENST00000315757.7	-	20	2554	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	ITGA11_ENST00000423218.2_Missense_Mutation_p.S823F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	823					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGTGTCGAAGGACAGCGTGTA	0.592																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2467-2469)tCc>tTc		integrin, alpha 11	Tirofiban(DB00775)						51	51	51					15																	68612671		2118	4242	6360	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68612671G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2468C>T	15.37:g.68612671G>A	ENSP00000327290:p.Ser823Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.S823F	p.S823F			Q9UKX5	ITA11_HUMAN			20	2563	-			823					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2468C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740924	0.69304	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.60797	0.16;0.16	5.62	5.62	0.85841	Integrin alpha-2 (1);	0.299113	0.38436	N	0.001682	T	0.68485	0.3006	L	0.44542	1.39	0.54753	D	0.999986	D;D	0.67145	0.98;0.996	P;D	0.63381	0.883;0.914	T	0.66921	-0.5801	10	0.45353	T	0.12	.	18.6297	0.91355	0.0:0.0:1.0:0.0	.	823;823	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	823;823;458	ENSP00000327290:S823F;ENSP00000403392:S823F	ENSP00000327290:S823F	S	-	2	0	ITGA11	66399725	1.000000	0.71417	0.999000	0.59377	0.433000	0.31745	4.806000	0.62569	2.651000	0.90000	0.561000	0.74099	TCC		0.592	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		11	88	0	0	0	1	0	11	88					A	68612671	G	A	68612671	3	1	59	1	0	0	0	0	1	0	0	0	7904	1174	41	2	1142	2	ITGA11	15	68612671	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	18419304	68612671	33918721	93	7202											
CYP11A1	1583	broad.mit.edu	37	chr15	74636146	74636146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctttactgaaaatcacGtcccatgcagccacatggtc	6	14	2	1	rs371896933		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:74636146G>A	ENST00000268053.6	-	4	967	c.813C>T	c.(811-813)gaC>gaT	p.D271D	CYP11A1_ENST00000358632.4_Silent_p.D113D|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.D113D	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	271			D -> DGD (in AICSR; complete loss of activity). {ECO:0000269|PubMed:11502818}.		biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TGAAAATCACGTCCCATGCAG	0.592																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(337-339)gaC>gaT		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)		,	1,4393	2.1+/-5.4	0,1,2196	169	162	165		813,339	-8.7	0	15		165	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CYP11A1	NM_000781.2,NM_001099773.1	,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,	271/522,113/364	74636146	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636146G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.813C>T	15.37:g.74636146G>A						CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Silent_p.D271D|CYP11A1_ENST00000419019.2_Silent_p.D113D	p.D113D	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			4	1034	-			271					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.339C>T	CCDS32291.1																																																																																				0.592	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			177	860	0	0	0	1	0	177	860					A	74636146	G	A	74636146	2	1	59	1	0	0	0	0	0	0	0	1	4155	1136	40	1		1	CYP11A1	15	74636146	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	6023475	74636146	27895246	94	7203											
ACAN	176	broad.mit.edu	37	chr15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttcggggcatctgccGcccctgaggccagcagagaa	15	13	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:89402162G>A	ENST00000561243.1	+	11	6346	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000439576.2_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T			P16112	PGCA_HUMAN	aggrecan	2001	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6346-6348)Gcc>Acc		aggrecan							45	47	47					15																	89402162		1908	4116	6024	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402162G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6346G>A	15.37:g.89402162G>A	ENSP00000453342:p.Ala2116Thr					ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T	p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6720	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2116					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6346G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082406	0.08533	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02197	4.61;4.4	5.18	3.18	0.36537	.	0.000000	0.32503	N	0.006010	T	0.06005	0.0156	M	0.68317	2.08	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.60789	0.794;0.879	T	0.28964	-1.0027	10	0.20046	T	0.44	-7.8812	4.7799	0.13197	0.1896:0.1793:0.6311:0.0	.	2116;2116	E7ENV9;E7EX88	.;.	T	2116;2116;2002	ENSP00000387356:A2116T;ENSP00000341615:A2116T	ENSP00000268134:A2002T	A	+	1	0	ACAN	87203166	0.000000	0.05858	0.092000	0.20876	0.011000	0.07611	-0.226000	0.09139	1.170000	0.42753	0.555000	0.69702	GCC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	334	0	0	0	1	0	5	334					A	89402162	G	A	89402162	3	1	59	1	0	0	0	0	1	0	0	0	117	1087	38	1	6388	1	ACAN	15	89402162	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	14766016	89402162	13129230	95	7204											
USP7	7874	broad.mit.edu	37	chr16	9017122	9017122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatcctacgcttttttgGtgtggtctgtctggataaaa	10	6	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:9017122G>A	ENST00000344836.4	-	3	531	c.333C>T	c.(331-333)caC>caT	p.H111H	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	111	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTTTTTTGGTGTGGTCTGT	0.453																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(331-333)caC>caT		ubiquitin specific peptidase 7 (herpes virus-associated)							183	173	177					16																	9017122		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9017122G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.333C>T	16.37:g.9017122G>A						USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	p.H111H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	531	-			111			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.333C>T	CCDS32385.1																																																																																				0.453	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			6	489	0	0	0	1	0	6	489					A	9017122	G	A	9017122	2	1	59	1	0	0	0	0	0	0	0	1	17142	1252	44	2		2	USP7	16	9017122	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		9017122	81337631	96	7205											
GGA2	23062	broad.mit.edu	37	chr16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcttggagctggatgCcggctgcagcttcactctca	13	11	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1645-1647)Gca>Aca		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							87	81	83					16																	23480293		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23480293C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1645G>A	16.37:g.23480293C>T	ENSP00000311962:p.Ala549Thr					GGA2_ENST00000567468.1_Intron	p.A549T	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	16	1727	-			549			GAE.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1645G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488740	0.84962	.	.	ENSG00000103365	ENST00000309859	T	0.32515	1.45	5.73	5.73	0.89815	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.059618	0.64402	D	0.000003	T	0.54046	0.1834	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50701	-0.8797	10	0.44086	T	0.13	-18.3214	14.1168	0.65159	0.0:0.8496:0.1504:0.0	.	549	Q9UJY4	GGA2_HUMAN	T	549	ENSP00000311962:A549T	ENSP00000311962:A549T	A	-	1	0	GGA2	23387794	0.980000	0.34600	0.697000	0.30258	0.984000	0.73092	1.977000	0.40589	2.704000	0.92352	0.650000	0.86243	GCA		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			5	273	0	0	0	1	0	5	273					T	23480293	C	T	23480293	3	4	59	1	0	0	0	0	1	0	0	0	6382	739	26	2	204	2	GGA2	16	23480293	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	14463171	23480293	66874460	97	7206											
ARMC5	79798	broad.mit.edu	37	chr16	31474214	31474214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccctgagcgggcacAgggtggaagcttccggagcc	17	12	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31474214A>G	ENST00000563544.1	+	4	1892	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000457010.2_Missense_Mutation_p.Q449R|ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	449										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGCGGGCACAGGGTGGAAGC	0.607																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1345-1347)cAg>cGg		armadillo repeat containing 5							9	11	10					16																	31474214		2038	4185	6223	SO:0001583	missense	79798						binding	g.chr16:31474214A>G	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1346A>G	16.37:g.31474214A>G	ENSP00000456877:p.Gln449Arg					ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R|ARMC5_ENST00000563544.1_Missense_Mutation_p.Q449R	p.Q449R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	2047	+			449					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1346A>G	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	a	7.014	0.557317	0.13436	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.84	4.84	0.62591	.	0.225551	0.44688	D	0.000438	T	0.11623	0.0283	N	0.14661	0.345	0.20403	N	0.999907	B;B;B;B;P	0.38370	0.016;0.016;0.039;0.016;0.628	B;B;B;B;B	0.36922	0.015;0.015;0.015;0.015;0.236	T	0.13629	-1.0502	10	0.44086	T	0.13	.	7.2303	0.26038	0.8992:0.0:0.1008:0.0	.	481;481;544;449;449	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	R	544;481;449;449;93	ENSP00000386125:Q544R;ENSP00000443995:Q481R;ENSP00000268314:Q449R;ENSP00000399561:Q449R;ENSP00000400183:Q93R	ENSP00000268314:Q449R	Q	+	2	0	ARMC5	31381715	0.996000	0.38824	0.431000	0.26735	0.580000	0.36256	1.039000	0.30266	1.806000	0.52798	0.375000	0.23000	CAG		0.607	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	101	0	0	0	1	0	3	101					G	31474214	A	G	31474214	3	3	59	1	0	0	0	0	1	0	0	0	955	188	7	4	1356	4	ARMC5	16	31474214	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	7993921	31474214	58880539	98	7207											
SALL1	6299	broad.mit.edu	37	chr16	51173233	51173233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaaatccaaagccccaCcattcactggggtgggagac	10	12	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:51173233C>A	ENST00000251020.4	-	2	2933	c.2900G>T	c.(2899-2901)gGt>gTt	p.G967V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G870V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	967					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)			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)			CAAAGCCCCACCATTCACTGG	0.483																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(2608-2610)gGt>gTt		spalt-like transcription factor 1							53	44	47					16																	51173233		2198	4300	6498	SO:0001583	missense	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.chr16:51173233C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2900G>T	16.37:g.51173233C>A	ENSP00000251020:p.Gly967Val					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G967V	p.G870V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3040	-		all_cancers(37;0.0322)	967					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2609G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434841	0.25813	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79033	-1.23;-1.23	5.6	5.6	0.85130	.	0.251543	0.47455	D	0.000238	T	0.72835	0.3510	L	0.39147	1.195	0.58432	D	0.999999	B	0.18310	0.027	B	0.12837	0.008	T	0.66396	-0.5934	10	0.38643	T	0.18	.	19.6099	0.95600	0.0:1.0:0.0:0.0	.	967	Q9NSC2	SALL1_HUMAN	V	967;870;931	ENSP00000251020:G967V;ENSP00000407914:G870V	ENSP00000251020:G967V	G	-	2	0	SALL1	49730734	0.998000	0.40836	0.933000	0.37362	0.782000	0.44232	5.039000	0.64185	2.626000	0.88956	0.557000	0.71058	GGT		0.483	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		40	200	1	0	5.71845e-15	1	6.02141e-15	40	200					A	51173233	C	A	51173233	3	1	59	1	0	0	0	0	1	0	0	0	13860	507	18	3	1082	3	SALL1	16	51173233	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	19699019	51173233	39181520	99	7208											
C16orf46	123775	broad.mit.edu	37	chr16	81095233	81095233	+	Silent	SNP	G	G	A													cccatccttttccacatccaGcaccttctcttctgactgca							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095233G>A	ENST00000299578.5	-	4	956	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.L241L	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	241						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCACATCCAGCACCTTCTCT	0.468																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(721-723)Ctg>Ttg		chromosome 16 open reading frame 46							152	143	146					16																	81095233		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095233G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.721C>T	16.37:g.81095233G>A						C16orf46_ENST00000299578.5_Silent_p.L241L|RP11-303E16.8_ENST00000564536.1_RNA	p.L241L	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	836	-			241					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.721C>T	CCDS10932.1																																																																																				0.468	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		68	810	0	0	0	1	0	68	810					A	81095233	G	A	81095233	2	1	59	1	0	0	0	0	0	0	0	1	1820	962	34	2		2	C16orf46	16	81095233	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	29922000	81095233	9259520	100	7209	52	2									
C16orf46	123775	broad.mit.edu	37	chr16	81095234	81095234	+	Silent	SNP	C	C	G													ccatccttttccacatccagCaccttctcttctgactgcaa							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095234C>G	ENST00000299578.5	-	4	955	c.720G>C	c.(718-720)gtG>gtC	p.V240V	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.V240V	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	240						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCACATCCAGCACCTTCTCTT	0.473																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(718-720)gtG>gtC		chromosome 16 open reading frame 46							152	143	146					16																	81095234		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095234C>G	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.720G>C	16.37:g.81095234C>G						C16orf46_ENST00000299578.5_Silent_p.V240V|RP11-303E16.8_ENST00000564536.1_RNA	p.V240V	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	835	-			240					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.720G>C	CCDS10932.1																																																																																				0.473	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		68	809	0	0	0	1	0	68	809					G	81095234	C	G	81095234	2	3	59	1	0	0	0	0	0	0	0	1	1820	697	25	5		5	C16orf46	16	81095234	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1	81095234	9259519	101	7210	52	2									
GALNS	2588	broad.mit.edu	37	chr16	88908313	88908313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctaccgtttctgGcatgggcgttggtggtgtag	17	8	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:88908313G>A	ENST00000268695.5	-	3	399	c.311C>T	c.(310-312)gCc>gTc	p.A104V	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	104	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ACCGTTTCTGGCATGGGCGTT	0.632																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(310-312)gCc>gTc		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						139	95	110					16																	88908313		2195	4299	6494	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88908313G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.311C>T	16.37:g.88908313G>A	ENSP00000268695:p.Ala104Val					GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	p.A104V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	3	399	-			104					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.311C>T	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840298|2.840298	0.51057|0.51057	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000268695|ENST00000439266	D|.	0.98617|.	-5.03|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63153|0.63153	0.2487|0.2487	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.986;0.998|.	P;D|.	0.67382|.	0.742;0.951|.	T|T	0.66268|0.66268	-0.5966|-0.5966	10|6	0.35671|0.87932	T|D	0.21|0	.|.	19.199|19.199	0.93701|0.93701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	104;104|.	B2R6P1;P34059|.	.;GALNS_HUMAN|.	V|S	104|63	ENSP00000268695:A104V|.	ENSP00000268695:A104V|ENSP00000402127:P63S	A|P	-|-	2|1	0|0	GALNS|GALNS	87435814|87435814	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.657000|0.657000	0.38888|0.38888	9.556000|9.556000	0.98127|0.98127	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.632	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			3	89	0	0	0	1	0	3	89					A	88908313	G	A	88908313	3	1	59	1	0	0	0	0	1	0	0	0	6234	1203	42	2	1305	2	GALNS	16	88908313	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	7813079	88908313	1446440	102	7211											
PITPNM3	83394	broad.mit.edu	37	chr17	6364736	6364736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggccttctgccgcagcGggtcatgcaccagcccatcg	12	15	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:6364736G>A	ENST00000262483.8	-	18	2534	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.P780L	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	816					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGCCGCAGCGGGTCATGCAC	0.637																																						ENST00000262483.8																			0											c.(2446-2448)cCg>cTg									127	114	118					17																	6364736		2203	4300	6503	SO:0001583	missense	0							g.chr17:6364736G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2447C>T	17.37:g.6364736G>A	ENSP00000262483:p.Pro816Leu					ACKR6_ENST00000421306.3_Missense_Mutation_p.P780L|ACKR6_ENST00000576664.1_5'UTR	p.P816L	NM_031220.3	NP_112497.2					18	2534	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2447C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824658	0.90955	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	D;D	0.88664	-2.41;-2.41	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.91635	0.837;0.999	D	0.94319	0.7552	10	0.49607	T	0.09	.	15.6383	0.76973	0.0:0.0:1.0:0.0	.	780;816	F8WEW5;Q9BZ71	.;PITM3_HUMAN	L	816;780	ENSP00000262483:P816L;ENSP00000407882:P780L	ENSP00000262483:P816L	P	-	2	0	PITPNM3	6305460	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.744000	0.98853	2.293000	0.77203	0.462000	0.41574	CCG		0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		36	535	0	0	0	1	0	36	535					A	6364736	G	A	6364736	3	1	59	1	0	0	0	0	1	0	0	0	11994	1116	39	1	489	1	PITPNM3	17	6364736	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		6364736	74830474	103	7212											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	19	12	1	0	rs137852790|rs137852791|rs587782705		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:7578475G>A	ENST00000269305.4	-	5	644	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000420246.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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)	ENST00000420246.2		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"		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CM941327	TP53	M		c.(454-456)cCg>cTg	Other conserved DNA damage response genes	tumor protein p53							51	52	52					17																	7578475		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475G>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.455C>T	17.37:g.7578475G>A	ENSP00000269305:p.Pro152Leu	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_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L	p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.455C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796249	0.70567	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	5.59	0.84812	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	0.99904	0.9954	M	0.91768	3.24	0.80722	D	1	P;P;D;D;D;P;D	0.89917	0.95;0.94;1.0;0.991;0.99;0.951;0.968	P;P;D;P;D;P;B	0.79108	0.53;0.774;0.992;0.561;0.91;0.812;0.377	D	0.96418	0.9309	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152L;ENSP00000352610:P152L;ENSP00000269305:P152L;ENSP00000398846:P152L;ENSP00000391127:P152L;ENSP00000391478:P152L;ENSP00000425104:P20L;ENSP00000423862:P59L;ENSP00000424104:P152L	ENSP00000269305:P152L	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	233	0	0	0	1	0	45	233					A	7578475	G	A	7578475	3	1	59	1	0	0	0	0	1	0	0	0	16434	1116	39	1	843	1	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	1213739	7578475	73616735	104	7213											
C17orf59	54785	broad.mit.edu	37	chr17	8092931	8092931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggacccggcgccaccGcacgcctcgctcagcccgtc	11	21	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:8092931G>C	ENST00000389017.4	-	1	633	c.528C>G	c.(526-528)tgC>tgG	p.C176W	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	176										large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGCGCCACCGCACGCCTCGC	0.736																																						ENST00000389017.4																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(526-528)tgC>tgG		chromosome 17 open reading frame 59							9	11	10					17																	8092931		2167	4217	6384	SO:0001583	missense	54785							g.chr17:8092931G>C	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.528C>G	17.37:g.8092931G>C	ENSP00000373669:p.Cys176Trp						p.C176W	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN			1	633	-			176					Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.528C>G	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936469	0.52972	.	.	ENSG00000196544	ENST00000389017	.	.	.	4.83	1.63	0.23807	.	0.181301	0.48767	D	0.000164	T	0.47525	0.1450	L	0.27053	0.805	0.58432	D	0.999998	D	0.64830	0.994	P	0.56127	0.792	T	0.43814	-0.9368	9	0.87932	D	0	-13.6498	6.3485	0.21363	0.3242:0.0:0.6758:0.0	.	176	Q96GS4	CQ059_HUMAN	W	176	.	ENSP00000373669:C176W	C	-	3	2	C17orf59	8033656	1.000000	0.71417	0.926000	0.36857	0.930000	0.56654	0.859000	0.27858	0.212000	0.20703	-0.367000	0.07326	TGC		0.736	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		27	96	0	0	0	1	0	27	96					C	8092931	G	C	8092931	3	2	59	1	0	0	0	0	1	0	0	0	1873	1079	38	5	549	5	C17orf59	17	8092931	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	514456	8092931	73102279	105	7214											
PLCD3	113026	broad.mit.edu	37	chr17	43194110	43194110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctgctgctccagcccGcagtggttctccagggatag	13	14	1	0	rs369060547		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:43194110G>A	ENST00000322765.5	-	8	1415	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	434	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.C434C(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCTCCAGCCCGCAGTGGTTCT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15445	0.0		0.0	False		,,,				2504	0.001					ENST00000322765.5																			2	Substitution - coding silent(2)	p.C434C(2)	lung(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1300-1302)tgC>tgT		phospholipase C, delta 3	Phosphatidylserine(DB00144)	G		0,4292		0,0,2146	34	40	38		1302	-3.4	1	17		38	2,8520		0,2,4259	no	coding-synonymous	PLCD3	NM_133373.3		0,2,6405	AA,AG,GG		0.0235,0.0,0.0156		434/790	43194110	2,12812	2146	4261	6407	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43194110G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1302C>T	17.37:g.43194110G>A						PLCD3_ENST00000540511.1_5'UTR	p.C434C	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			8	1415	-			434			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.1302C>T																																																																																					0.647	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		24	270	0	0	0	1	0	24	270					A	43194110	G	A	43194110	2	1	59	1	0	0	0	0	0	0	0	1	12074	1079	38	1		1	PLCD3	17	43194110	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	35101179	43194110	38001100	106	7215											
SDK2	54549	broad.mit.edu	37	chr17	71382685	71382685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggacgtgaagggcttcAgcctgtagggagaaatcagg	16	6	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:71382685A>G	ENST00000392650.3	-	31	4397	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P	SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1466	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGGCTTCAGCCTGTAGGG	0.592																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4396-4398)cTg>cCg		sidekick cell adhesion molecule 2							53	39	44					17																	71382685		2190	4243	6433	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71382685A>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4397T>C	17.37:g.71382685A>G	ENSP00000376421:p.Leu1466Pro					SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			31	4397	-			1466			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4397T>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646124	0.67358	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	D;D;D	0.85171	-1.95;-1.95;-1.95	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.073886	0.56097	D	0.000028	D	0.95708	0.8604	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.991	D;D;D	0.76575	0.988;0.988;0.979	D	0.97515	1.0069	10	0.87932	D	0	.	14.523	0.67867	1.0:0.0:0.0:0.0	.	1466;1466;1466	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	P	1090;1466;1466;642;1466	ENSP00000376421:L1466P;ENSP00000373378:L1466P;ENSP00000407098:L642P	ENSP00000324967:L1466P	L	-	2	0	SDK2	68894280	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	9.246000	0.95438	1.923000	0.55706	0.496000	0.49642	CTG		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		2	11	0	0	0	1	0	2	11					G	71382685	A	G	71382685	3	3	59	1	0	0	0	0	1	0	0	0	14019	188	7	4	2181	4	SDK2	17	71382685	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	28188575	71382685	9812525	107	7216											
GRIN2C	2905	broad.mit.edu	37	chr17	72839130	72839131	+	In_Frame_Ins	INS	-	-	GCTCCGGGG													gagcagcggcaggtcctccaINSgctccgggaagagcgggagg					rs139495021|rs56348130	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:72839130_72839131insGCTCCGGGG	ENST00000293190.5	-	13	3291_3292	c.3145_3146insCCCCGGAGC	c.(3145-3147)ctg>cCCCCGGAGCtg	p.1048_1049insPPE		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1048				E -> EPPE (in Ref. 3; AAI40802). {ECO:0000305}.	directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGTCCTCCAGCTCCGGGAAG	0.762														3988	0.796326	0.8094	0.7954	5008	,	,		7028	0.7391		0.8946	False		,,,				2504	0.7372					ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(3145-3147)gga>CCCCGGAGCgga		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)			563,191		274,15,88						3	0.8		dbSNP_130	1	1433,215		704,25,95	no	coding	GRIN2C	NM_000835.3		978,40,183	A1A1,A1R,RR		13.0461,25.3316,16.9026				1996,406				SO:0001652	inframe_insertion	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72839130_72839131insGCTCCGGGG		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3145_3146insCCCCGGAGC	17.37:g.72839130_72839131insGCTCCGGGG	ENSP00000293190:p.Glu1048_Leu1049insProProGlu						p.1048_1049insPRS	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			13	3291_3292	-	all_lung(278;0.172)|Lung NSC(278;0.207)		1048	E -> EPPE (in Ref. 3; AAI40802).				B2RTT1	In_Frame_Ins	INS	ENST00000293190.5	37	c.3145_3146insCCCCGGAGC	CCDS32724.1																																																																																				0.762	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			3	2						3	2	---	---	---	---	GCTCCGGGG	72839131	-	GCTCCGGGG	72839130	7	5	59	1	0	1	1	0	0	0	0	0	6811	188	7	0	559	0	GRIN2C	17	72839130	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	1456445	72839130	8356080	108	7217											
QRICH2	84074	broad.mit.edu	37	chr17	74289257	74289257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttgatcgacgacaggCaatgtcaatccttgctggtc	10	11	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:74289257C>A	ENST00000262765.5	-	4	1232	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	351										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						CGACGACAGGCAATGTCAATC	0.483																																						ENST00000262765.5																			0				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						c.(1051-1053)ttG>ttT		glutamine rich 2							185	149	161					17																	74289257		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289257C>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.1053G>T	17.37:g.74289257C>A	ENSP00000262765:p.Leu351Phe						p.L351F	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1232	-			351					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1053G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941702	0.18281	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09538	2.97	4.17	-8.26	0.01021	.	.	.	.	.	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	P;B	0.36535	0.557;0.218	B;B	0.30495	0.116;0.116	T	0.41197	-0.9522	9	0.10111	T	0.7	3.8857	1.7044	0.02878	0.2002:0.3545:0.0994:0.3459	.	351;351	B5MD94;Q9H0J4	.;QRIC2_HUMAN	F	351	ENSP00000262765:L351F	ENSP00000262765:L351F	L	-	3	2	QRICH2	71800852	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.265000	0.01172	-1.079000	0.03113	0.563000	0.77884	TTG		0.483	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		97	415	1	0	4.08182e-41	1	4.44527e-41	97	415					A	74289257	C	A	74289257	3	1	59	1	0	0	0	0	1	0	0	0	12930	709	25	3	4002	3	QRICH2	17	74289257	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1450127	74289257	6905953	109	7218											
DNAH17	8632	broad.mit.edu	37	chr17	76455227	76455227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaccaggagcacaggccGgcggcggccgtggacttgga	17	12	0	0	rs139000751	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:76455227G>A	ENST00000585328.1	-	61	9826	c.9702C>T	c.(9700-9702)gcC>gcT	p.A3234A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.A3225A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3225	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)			AGCACAGGCCGGCGGCGGCCG	0.652																																						ENST00000389840.5																			0				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						c.(9673-9675)gcC>gcT		dynein, axonemal, heavy chain 17		G		3,4403	6.2+/-15.9	0,3,2200	165	179	174		9717	-10.7	0.1	17	dbSNP_134	174	0,8600		0,0,4300	no	coding-synonymous	DNAH17	NM_173628.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		3239/4463	76455227	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455227G>A	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.9702C>T	17.37:g.76455227G>A						DNAH17_ENST00000585328.1_Silent_p.A3234A|DNAH17_ENST00000586052.1_5'UTR	p.A3225A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9799	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9675C>T																																																																																					0.652	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		105	1145	0	0	0	1	0	105	1145					A	76455227	G	A	76455227	2	1	59	1	0	0	0	0	0	0	0	1	4617	1103	39	1		1	DNAH17	17	76455227	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2165970	76455227	4739983	110	7219											
LAMA1	284217	broad.mit.edu	37	chr18	7036029	7036029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaggttactgtctaccGtctctaccggaatatcgtag	9	10	2	1	rs148234507	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr18:7036029G>A	ENST00000389658.3	-	13	1889	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	599	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)			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)				ACTGTCTACCGTCTCTACCGG	0.448																																						ENST00000389658.3																			0				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						c.(1795-1797)aCg>aTg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	184	129	147		1796	5.8	0.1	18	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LAMA1	NM_005559.3	81	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging	599/3076	7036029	6,13000	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.chr18:7036029G>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.1796C>T	18.37:g.7036029G>A	ENSP00000374309:p.Thr599Met						p.T599M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			13	1889	-		Colorectal(10;0.172)	599			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1796C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249824	0.59212	9.08E-4	2.33E-4	ENSG00000101680	ENST00000389658	T	0.18502	2.21	5.78	5.78	0.91487	Laminin B type IV (2);Laminin B, subgroup (1);	0.231983	0.41294	D	0.000914	T	0.24928	0.0605	L	0.34521	1.04	0.33087	D	0.537462	D	0.63880	0.993	P	0.55749	0.783	T	0.10268	-1.0637	10	0.46703	T	0.11	.	14.4364	0.67284	0.0:0.2615:0.7385:0.0	.	599	P25391	LAMA1_HUMAN	M	599	ENSP00000374309:T599M	ENSP00000374309:T599M	T	-	2	0	LAMA1	7026029	0.245000	0.23899	0.115000	0.21578	0.599000	0.36880	2.078000	0.41567	2.731000	0.93534	0.655000	0.94253	ACG		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		22	235	0	0	0	1	0	22	235					A	7036029	G	A	7036029	3	1	59	1	0	0	0	0	1	0	0	0	8636	1145	40	1	7635	1	LAMA1	18	7036029	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		7036029	71041219	111	7220											
ZNF208	7757	broad.mit.edu	37	chr19	22156518	22156518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgttccataaGgtttgaggaccagttgaaag	9	5	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:22156518G>T	ENST00000397126.4	-	4	1466	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1318-1320)Ctt>Att		zinc finger protein 208							82	89	87					19																	22156518		2114	4251	6365	SO:0001583	missense	7757							g.chr19:22156518G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1318C>A	19.37:g.22156518G>T	ENSP00000380315:p.Leu440Ile					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.L440I	NM_007153.3	NP_009084.2					4	1466	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1318C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093235	0.36952	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.83	-1.07	0.09968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66117	0.2757	.	.	.	0.09310	N	1	P	0.52061	0.95	D	0.75484	0.986	T	0.55958	-0.8058	8	0.66056	D	0.02	.	7.5067	0.27549	0.4539:0.0:0.5461:0.0	.	440	O43345	ZN208_HUMAN	I	440	ENSP00000380315:L440I	ENSP00000380315:L440I	L	-	1	0	ZNF208	21948358	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.672000	0.05244	-0.162000	0.10964	0.306000	0.20318	CTT		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		35	392	1	0	6.90743e-12	1	7.22553e-12	35	392					T	22156518	G	T	22156518	3	4	59	1	0	0	0	0	1	0	0	0	17819	1000	35	3	2528	3	ZNF208	19	22156518	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		22156518	36972465	112	7221											
C19orf40	91442	broad.mit.edu	37	chr19	33467438	33467438	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcgaaccgtgcagcagatCccaggagttggaaaagttaa	11	9	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:33467438C>T	ENST00000588258.1	+	5	608	c.498C>T	c.(496-498)atC>atT	p.I166I	C19orf40_ENST00000590281.1_Silent_p.I166I|C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590179.1_Silent_p.I71I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	166	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGCAGCAGATCCCAGGAGTTG	0.532								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(496-498)atC>atT	Direct reversal of damage	chromosome 19 open reading frame 40							115	105	109					19																	33467438		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467438C>T	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.498C>T	19.37:g.33467438C>T			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590179.1_Silent_p.I71I|C19orf40_ENST00000590281.1_Silent_p.I166I	p.I166I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			5	608	+	Esophageal squamous(110;0.137)		166			RuvA domain 2-like.		B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.498C>T	CCDS12426.1																																																																																				0.532	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		94	583	0	0	0	1	0	94	583					T	33467438	C	T	33467438	2	4	59	1	0	0	0	0	0	0	0	1	1930	845	30	2		2	C19orf40	19	33467438	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	11310920	33467438	25661545	113	7222											
ATP4A	495	broad.mit.edu	37	chr19	36050067	36050067	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgcagttcttactggccagGcgcttggctgtcagggacag	14	11	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:36050067G>C	ENST00000262623.3	-	8	1111	c.1083C>G	c.(1081-1083)cgC>cgG	p.R361R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	361					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TACTGGCCAGGCGCTTGGCTG	0.622																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1081-1083)cgC>cgG		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						141	134	137					19																	36050067		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050067G>C		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1083C>G	19.37:g.36050067G>C							p.R361R	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1111	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		361					O00738	Silent	SNP	ENST00000262623.3	37	c.1083C>G	CCDS12467.1																																																																																				0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		106	859	0	0	0	1	0	106	859					C	36050067	G	C	36050067	2	2	59	1	0	0	0	0	0	0	0	1	1146	1190	42	5		5	ATP4A	19	36050067	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2582629	36050067	23078916	114	7223											
ZC3H4	23211	broad.mit.edu	37	chr19	47570533	47570533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgcagggccgcgggcaCggggggcactgcgtcctgct	19	12	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:47570533C>T	ENST00000253048.5	-	15	3029	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	998							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGCGGGCACGGGGGGCACT	0.741																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2992-2994)Gtg>Atg		zinc finger CCCH-type containing 4							32	39	37					19																	47570533		1994	4125	6119	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570533C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2992G>A	19.37:g.47570533C>T	ENSP00000253048:p.Val998Met					ZC3H4_ENST00000594019.1_5'UTR	p.V998M	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3029	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	998					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2992G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772652	0.31411	.	.	ENSG00000130749	ENST00000253048	T	0.21031	2.03	5.02	3.92	0.45320	.	0.646346	0.15558	N	0.256081	T	0.24812	0.0602	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	P	0.56788	0.806	T	0.03818	-1.1001	10	0.72032	D	0.01	.	10.2675	0.43464	0.1475:0.7089:0.1436:0.0	.	998	Q9UPT8	ZC3H4_HUMAN	M	998	ENSP00000253048:V998M	ENSP00000253048:V998M	V	-	1	0	ZC3H4	52262373	0.983000	0.35010	0.117000	0.21633	0.212000	0.24457	2.589000	0.46145	2.494000	0.84150	0.563000	0.77884	GTG		0.741	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			36	450	0	0	0	1	0	36	450					T	47570533	C	T	47570533	3	4	59	1	0	0	0	0	1	0	0	0	17623	536	19	1	923	1	ZC3H4	19	47570533	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	11520466	47570533	11558450	115	7224											
FUT1	2523	broad.mit.edu	37	chr19	49254216	49254216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaggataaaggcccggCggccgttgagctgggccaga	17	11	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:49254216C>T	ENST00000310160.3	-	4	1297	c.323G>A	c.(322-324)cGc>cAc	p.R108H	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAAGGCCCGGCGGCCGTTGAG	0.662																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(322-324)cGc>cAc		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							30	36	34					19																	49254216		2203	4299	6502	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254216C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.323G>A	19.37:g.49254216C>T	ENSP00000312021:p.Arg108His						p.R108H	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1297	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	108					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.323G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291428	0.40494	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96967	-4.19	4.53	3.5	0.40072	.	0.226724	0.28338	N	0.015702	D	0.96364	0.8814	L	0.59436	1.845	0.23293	N	0.997965	D	0.89917	1.0	D	0.70716	0.97	D	0.89515	0.3774	10	0.39692	T	0.17	-7.0379	6.213	0.20640	0.0:0.8027:0.0:0.1973	.	108	P19526	FUT1_HUMAN	H	108	ENSP00000312021:R108H	ENSP00000312021:R108H	R	-	2	0	FUT1	53946028	0.997000	0.39634	0.970000	0.41538	0.028000	0.11728	1.011000	0.29911	2.538000	0.85594	0.655000	0.94253	CGC		0.662	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		5	288	0	0	0	1	0	5	288					T	49254216	C	T	49254216	3	4	59	1	0	0	0	0	1	0	0	0	6128	768	27	1	778	1	FUT1	19	49254216	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1683683	49254216	9874767	116	7225											
KLK4	9622	broad.mit.edu	37	chr19	51411614	51411614	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctttcccctctctcaCgttgcaggagtccttctggt	7	17	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:51411614C>T	ENST00000324041.1	-	4	612		c.e4+1		KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4						amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCCTCTCTCACGTTGCAGGAG	0.622																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.e4+1		kallikrein-related peptidase 4							97	82	87					19																	51411614		2203	4300	6503	SO:0001630	splice_region_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411614C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.612+1G>A	19.37:g.51411614C>T						KLK4_ENST00000431178.2_Intron		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	4	612	-		all_neural(266;0.026)						Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Splice_Site	SNP	ENST00000324041.1	37		CCDS12809.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370974	0.24771	.	.	ENSG00000167749	ENST00000324041	.	.	.	3.68	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.915	0.47131	0.0:0.8071:0.1928:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLK4	56103426	0.993000	0.37304	0.493000	0.27502	0.005000	0.04900	4.004000	0.57068	0.845000	0.35118	0.555000	0.69702	.		0.622	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	Intron	47	520	0	0	0	1	0	47	520					T	51411614	C	T	51411614	5	4	59	1	0	0	0	0	0	0	1	0	8436	550	19	1	159	1	KLK4	19	51411614	Splice_Site	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	2157398	51411614	7717369	117	7226											
SNRPB	6628	broad.mit.edu	37	chr20	2442419	2442419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctagggccttggtgggcGcattcccgggggagggggcc	20	10	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:2442419G>A	ENST00000438552.2	-	7	868	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547																																						ENST00000438552.2																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(706-708)Cgc>Tgc		small nuclear ribonucleoprotein polypeptides B and B1							48	51	50					20																	2442419		2203	4300	6503	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr20:2442419G>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.706C>T	20.37:g.2442419G>A	ENSP00000412566:p.Arg236Cys					SNRPB_ENST00000381342.2_3'UTR	p.R236C	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN			7	868	-			236			Repeat-rich region.		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.706C>T	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066100	0.36470	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.45668	0.89	4.7	3.74	0.42951	.	0.298090	0.36338	N	0.002646	T	0.12263	0.0298	N	0.01874	-0.695	0.80722	D	1	P	0.50710	0.938	B	0.22753	0.041	T	0.16512	-1.0400	10	0.87932	D	0	.	10.0794	0.42379	0.1001:0.0:0.8999:0.0	.	236	P14678	RSMB_HUMAN	C	236;284	ENSP00000412566:R236C	ENSP00000303591:R284C	R	-	1	0	SNRPB	2390419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.037000	0.41174	1.315000	0.45114	0.561000	0.74099	CGC		0.547	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			5	393	0	0	0	1	0	5	393					A	2442419	G	A	2442419	3	1	59	1	0	0	0	0	1	0	0	0	14911	1087	38	1	20	1	SNRPB	20	2442419	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		2442419	60583101	118	7227											
SPTLC3	55304	broad.mit.edu	37	chr20	13098235	13098235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctctacatagatgaagctCacagtattggggccgtgggc	12	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:13098235C>T	ENST00000399002.2	+	8	1289	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	339					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGATGAAGCTCACAGTATTGG	0.507																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1015-1017)Cac>Tac		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						115	116	116					20																	13098235		1859	4106	5965	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098235C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1015C>T	20.37:g.13098235C>T	ENSP00000381968:p.His339Tyr					SPTLC3_ENST00000378194.4_Intron	p.H339Y	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1289	+			339					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1015C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	33	5.280596	0.95489	.	.	ENSG00000172296	ENST00000399002	D	0.82619	-1.63	5.86	5.86	0.93980	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95806	0.8837	10	0.87932	D	0	-22.4974	20.5632	0.99335	0.0:1.0:0.0:0.0	.	339	Q9NUV7	SPTC3_HUMAN	Y	339	ENSP00000381968:H339Y	ENSP00000381968:H339Y	H	+	1	0	SPTLC3	13046235	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	CAC		0.507	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		52	762	0	0	0	1	0	52	762					T	13098235	C	T	13098235	3	4	59	1	0	0	0	0	1	0	0	0	15177	826	29	2	1045	2	SPTLC3	20	13098235	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	10655816	13098235	49927285	119	7228											
PCIF1	63935	broad.mit.edu	37	chr20	44574946	44574946	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtcagcttcgagtgcttCgcctcacccctcaactgcta	9	16	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1534-1536)ttC>ttT		PDX1 C-terminal inhibiting factor 1							127	117	120					20																	44574946		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44574946C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1536C>T	20.37:g.44574946C>T						PCIF1_ENST00000479348.1_3'UTR	p.F512F	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			14	1900	+			512					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1536C>T	CCDS13388.1																																																																																				0.642	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		48	670	0	0	0	1	0	48	670					T	44574946	C	T	44574946	2	4	59	1	0	0	0	0	0	0	0	1	11622	883	31	1		1	PCIF1	20	44574946	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	31476711	44574946	18450574	120	7229											
PACSIN2	11252	broad.mit.edu	37	chr22	43272926	43272926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgtccttctcactgacGgtgctgcccgtgtcgtcctc	11	15	1	1	rs370438215	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43272926G>A	ENST00000263246.3	-	9	1320	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	373					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCTCACTGACGGTGCTGCCCG	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20533	0.0		0.0	False		,,,				2504	0.0					ENST00000263246.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1117-1119)acC>acT		protein kinase C and casein kinase substrate in neurons 2		G	,,	8,4302		0,8,2147	195	227	216		1119,,1119	3.8	1	22		216	0,8492		0,0,4246	no	coding-synonymous,intron,coding-synonymous	PACSIN2	NM_001184970.1,NM_001184971.1,NM_007229.3	,,	0,8,6393	AA,AG,GG		0.0,0.1856,0.0625	,,	373/487,,373/487	43272926	8,12794	2155	4246	6401	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272926G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1119C>T	22.37:g.43272926G>A						PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T|PACSIN2_ENST00000337959.4_Intron	p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			9	1320	-		Glioma(61;0.222)	373					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1119C>T	CCDS43023.1																																																																																				0.567	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		167	622	0	0	0	1	0	167	622					A	43272926	G	A	43272926	2	1	59	1	0	0	0	0	0	0	0	1	11417	1103	39	1		1	PACSIN2	22	43272926	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		43272926	8031640	121	7230											
PARVB	29780	broad.mit.edu	37	chr22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccacaatgtgtccttcGcctttgagctgatgctggac	11	11	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000404989.1_Missense_Mutation_p.A285T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.A355T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(964-966)Gcc>Acc		parvin, beta							130	94	107					22																	44559756		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44559756G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.964G>A	22.37:g.44559756G>A	ENSP00000342492:p.Ala322Thr					PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	p.A322T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			12	1027	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	322			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.964G>A	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC		0.627	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		30	321	0	0	0	1	0	30	321					A	44559756	G	A	44559756	3	1	59	1	0	0	0	0	1	0	0	0	11511	1087	38	1	1229	1	PARVB	22	44559756	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	1286830	44559756	6744810	122	7231											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685629	125685629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatgggagcccacggcGtacacagacatatcatcaca	11	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597																																						ENST00000371126.1																			1	Substitution - coding silent(1)	p.Y321Y(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(961-963)taC>taT		DDB1 and CUL4 associated factor 12-like 1							64	57	60					X																	125685629		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685629G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.963C>T	X.37:g.125685629G>A							p.Y321Y	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1205	-			321					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.963C>T	CCDS14610.1																																																																																				0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		5	375	0	0	0	1	0	5	375					A	125685629	G	A	125685629	2	1	59	1	0	0	0	0	0	0	0	1	4275	1140	40	1		1	DCAF12L1	23	125685629	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		125685629	29584931	123	7232											
FRMD7	90167	broad.mit.edu	37	chrX	131212649	131212649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgctggacgcacttTgcttgtgaggccagaatata	11	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:131212649T>G	ENST00000298542.4	-	12	1571	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q|FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	466					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGACGCACTTTGCTTGTGAGG	0.438																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1396-1398)Aaa>Caa		FERM domain containing 7							176	161	166					X																	131212649		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212649T>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1396A>C	X.37:g.131212649T>G	ENSP00000298542:p.Lys466Gln					FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q	p.K466Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1571	-	Acute lymphoblastic leukemia(192;0.000127)		466					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1396A>C	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857234	0.32791	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86432	-2.12;-1.78;-1.89	5.76	3.06	0.35304	.	0.865793	0.10146	N	0.710259	D	0.82435	0.5036	L	0.54323	1.7	0.22796	N	0.998721	P;P	0.43094	0.799;0.698	B;B	0.39840	0.311;0.115	T	0.70303	-0.4909	10	0.37606	T	0.19	.	5.8957	0.18937	0.0:0.4209:0.0:0.5791	.	451;466	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Q	346;466;451	ENSP00000359916:K346Q;ENSP00000298542:K466Q;ENSP00000417996:K451Q	ENSP00000298542:K466Q	K	-	1	0	FRMD7	131040330	0.200000	0.23398	0.958000	0.39756	0.764000	0.43329	1.090000	0.30902	0.806000	0.34183	0.486000	0.48141	AAA		0.438	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		85	1055	0	0	0	1	0	85	1055					G	131212649	T	G	131212649	3	3	59	1	0	0	0	0	1	0	0	0	6082	1821	63	4	752	4	FRMD7	23	131212649	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	5527020	131212649	24057911	124	7233											
OPN1LW	5956	broad.mit.edu	37	chrX	153416268	153416268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagttcaagaagctgCgccacccgctgaactggatc	10	13	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:153416268C>T	ENST00000369951.4	+	2	313	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	85					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGAAGCTGCGCCACCCGCT	0.562																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(253-255)Cgc>Tgc		opsin 1 (cone pigments), long-wave-sensitive							56	53	54					X																	153416268		2180	4261	6441	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416268C>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.253C>T	X.37:g.153416268C>T	ENSP00000358967:p.Arg85Cys					OPN1LW_ENST00000463296.1_3'UTR	p.R85C	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			2	313	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		85						Missense_Mutation	SNP	ENST00000369951.4	37	c.253C>T	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441885	0.63067	.	.	ENSG00000102076	ENST00000369951	T	0.46063	0.88	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.052609	0.85682	D	0.000000	T	0.75838	0.3904	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85517	0.1201	10	0.87932	D	0	.	14.6616	0.68876	0.0:1.0:0.0:0.0	.	85	P04000	OPSR_HUMAN	C	85	ENSP00000358967:R85C	ENSP00000358967:R85C	R	+	1	0	OPN1LW	153069462	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	5.900000	0.69853	1.771000	0.52183	0.436000	0.28706	CGC		0.562	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		21	333	0	0	0	1	0	21	333					T	153416268	C	T	153416268	3	4	59	1	0	0	0	0	1	0	0	0	10919	768	27	1	259	1	OPN1LW	23	153416268	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	22203619	153416268	1854292	125	7234											
ARID1A	8289	broad.mit.edu	37	chr1	27106165	27106165	+	Frame_Shift_Del	DEL	G	G	-													ctagcaccttgaccgaggatGgagctaagagttcagaggcc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:27106165delG	ENST00000324856.7	+	20	6147	c.5776delG	c.(5776-5778)ggafs	p.G1926fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1926					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACCGAGGATGGAGCTAAGAG	0.537			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5776-5778)gafs		AT rich interactive domain 1A (SWI-like)							120	119	119					1																	27106165		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106165delG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5776delG	1.37:g.27106165delG	ENSP00000320485:p.Gly1926fs					ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs	p.G1926fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6147	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1926					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5776delG	CCDS285.1																																																																																				0.537	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		177	612						177	612	---	---	---	---	-	27106165	G	-	27106165	7	5	60	1	0	1	0	1	0	0	0	0	913	1349	47	0	5854	0	ARID1A	1	27106165	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08		27106165	222144456	1	7235											
KCNQ4	9132	broad.mit.edu	37	chr1	41284263	41284263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcgctgcgcagcatgCgcttcctgcagatcctgcgc	12	17	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:41284263C>T	ENST00000347132.5	+	4	701	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	207					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCGCAGCATGCGCTTCCTGCA	0.682																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(619-621)Cgc>Tgc		potassium voltage-gated channel, KQT-like subfamily, member 4							26	25	25					1																	41284263		2202	4297	6499	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284263C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.619C>T	1.37:g.41284263C>T	ENSP00000262916:p.Arg207Cys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C	p.R207C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	701	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	207					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.619C>T	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.029102|5.029102	0.93518|0.93518	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99652	.|-6.3;-6.3	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99743|0.99743	0.9898|0.9898	H|H	0.95328|0.95328	3.655|3.655	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.97252|0.97252	0.9898|0.9898	5|10	.|0.87932	.|D	.|0	-22.544|-22.544	15.9289|15.9289	0.79644|0.79644	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|207;207	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|C	102|207	.|ENSP00000262916:R207C;ENSP00000423756:R207C	.|ENSP00000262916:R207C	A|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41056850|41056850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.064000|3.064000	0.49986|0.49986	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.682	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		5	199	0	0	0	1	0	5	199					T	41284263	C	T	41284263	3	4	60	1	0	0	0	0	1	0	0	0	8115	768	27	1	633	1	KCNQ4	1	41284263	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	14178098	41284263	207966358	2	7236											
SORT1	6272	broad.mit.edu	37	chr1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggatgacttgcgtagccGcagaaactgttctttgtagc	11	10	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGCGTAGCCGCAGAAACTGT	0.488																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1930-1932)Cgg>Tgg		sortilin 1							141	134	136					1																	109865648		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109865648G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1930C>T	1.37:g.109865648G>A	ENSP00000256637:p.Arg644Trp					SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	p.R644W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	15	1988	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	644			Interactions with LRPAP1 and NGFB.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1930C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317671	0.81469	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.46819	0.86;0.86	5.64	3.73	0.42828	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70353	-0.4895	10	0.87932	D	0	-17.4155	13.9284	0.63978	0.0:0.0:0.7226:0.2774	.	507;644	B4DWI3;Q99523	.;SORT_HUMAN	W	644;507	ENSP00000256637:R644W;ENSP00000438597:R507W	ENSP00000256637:R644W	R	-	1	2	SORT1	109667171	1.000000	0.71417	0.697000	0.30258	0.965000	0.64279	6.008000	0.70739	0.713000	0.32060	-0.268000	0.10319	CGG		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		5	426	0	0	0	1	0	5	426					A	109865648	G	A	109865648	3	1	60	1	0	0	0	0	1	0	0	0	14985	1086	38	1	589	1	SORT1	1	109865648	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	68581385	109865648	139384973	3	7237											
MPZL1	9019	broad.mit.edu	37	chr1	167734835	167734835	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagtgacagctggagtatCagccttggaagtatatacgc	11	8	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:167734835C>T	ENST00000359523.2	+	2	309	c.107C>T	c.(106-108)tCa>tTa	p.S36L	MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	36	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCTGGAGTATCAGCCTTGGAA	0.433																																						ENST00000359523.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(106-108)tCa>tTa		myelin protein zero-like 1							78	73	75					1																	167734835		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167734835C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.107C>T	1.37:g.167734835C>T	ENSP00000352513:p.Ser36Leu					MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L	p.S36L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN			2	309	+	all_hematologic(923;0.215)		36			Ig-like V-type.		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.107C>T	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093876	0.76870	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;T;T;D	0.97529	-1.41;-1.41;-1.41;-4.42	4.79	2.9	0.33743	Immunoglobulin-like (1);	0.487731	0.21597	N	0.072020	D	0.83815	0.5336	N	0.15975	0.35	0.49299	D	0.999778	B;B;B	0.33448	0.099;0.412;0.022	B;B;B	0.29598	0.041;0.104;0.011	T	0.79509	-0.1774	9	0.08179	T	0.78	.	10.8419	0.46720	0.0:0.8429:0.0:0.1571	.	36;36;36	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	L	36;36;36;10	ENSP00000352513:S36L;ENSP00000375968:S36L;ENSP00000420455:S36L;ENSP00000356827:S10L	ENSP00000352513:S36L	S	+	2	0	MPZL1	166001459	0.839000	0.29477	0.191000	0.23289	0.786000	0.44442	2.816000	0.48026	1.341000	0.45600	0.655000	0.94253	TCA		0.433	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		63	276	0	0	0	1	0	63	276					T	167734835	C	T	167734835	3	4	60	1	0	0	0	0	1	0	0	0	9790	838	29	2	113	2	MPZL1	1	167734835	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	57869187	167734835	81515786	4	7238											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-													caaaggtacaggagccccagAgcagcagcagcagtccccag					rs142739309|rs121917743		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctc>ct		renin	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del					REN_ENST00000272190.8_In_Frame_Del_p.LL15del	p.LL15del			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	88_90	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		7	750						7	750	---	---	---	---	-	204135377	AGC	-	204135375	7	5	60	1	0	1	0	1	0	0	0	0	13274	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-FZ-5922-01A-11D-1609-08	36400540	204135375	45115246	5	7239											
ACTA1	58	broad.mit.edu	37	chr1	229567782	229567782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctccgggcagcggaagCgctcgttgccgatggtgatg	17	11	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:229567782C>A	ENST00000366684.3	-	5	869	c.767G>T	c.(766-768)cGc>cTc	p.R256L	ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	256					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GCAGCGGAAGCGCTCGTTGCC	0.716																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(766-768)cGc>cTc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						25	24	25					1																	229567782		2202	4297	6499	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567782C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.767G>T	1.37:g.229567782C>A	ENSP00000355645:p.Arg256Leu					ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L	p.R256L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			5	869	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	256					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.767G>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609495	0.66558	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.97232	-4.3;-4.3	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.84082	2.675	0.80722	D	1	D	0.63880	0.993	D	0.77004	0.989	D	0.99686	1.1000	10	0.87932	D	0	.	16.8952	0.86098	0.0:1.0:0.0:0.0	.	256	P68133	ACTS_HUMAN	L	256;166;168;221	ENSP00000355645:R256L;ENSP00000355644:R168L	ENSP00000312351:R166L	R	-	2	0	ACTA1	227634405	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.575000	0.82447	2.201000	0.70794	0.563000	0.77884	CGC		0.716	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	119	1	0	1	1	1	4	119					A	229567782	C	A	229567782	3	1	60	1	0	0	0	0	1	0	0	0	191	768	27	3	378	3	ACTA1	1	229567782	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	25432407	229567782	19682839	6	7240											
KIF26B	55083	broad.mit.edu	37	chr1	245850589	245850589	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgcaaagaaagagaTgaaatttgaggacccgtggc	12	6	0	4	rs574497869		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:245850589T>A	ENST00000407071.2	+	12	4744	c.4304T>A	c.(4303-4305)aTg>aAg	p.M1435K	KIF26B_ENST00000366518.4_Missense_Mutation_p.M1054K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1435					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGAAAGAGATGAAATTTGAG	0.552													T|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.001		0.0	False		,,,				2504	0.0					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3160-3162)aTg>aAg		kinesin family member 26B							17	20	19					1																	245850589		1923	4129	6052	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850589T>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4304T>A	1.37:g.245850589T>A	ENSP00000385545:p.Met1435Lys					KIF26B_ENST00000407071.2_Missense_Mutation_p.M1435K	p.M1054K			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3265	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1435					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3161T>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440804	0.25900	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77620	-1.11;-1.1	5.4	5.4	0.78164	.	.	.	.	.	T	0.71796	0.3382	L	0.54323	1.7	0.37366	D	0.91143	P;B	0.34909	0.475;0.337	B;B	0.26770	0.073;0.031	T	0.76132	-0.3071	9	0.42905	T	0.14	.	15.7173	0.77677	0.0:0.0:0.0:1.0	.	1054;1435	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	1435;1054;1051	ENSP00000385545:M1435K;ENSP00000355475:M1054K	ENSP00000355475:M1054K	M	+	2	0	KIF26B	243917212	0.995000	0.38212	1.000000	0.80357	0.055000	0.15305	2.252000	0.43196	2.168000	0.68352	0.459000	0.35465	ATG		0.552	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		19	70	0	0	0	1	0	19	70					A	245850589	T	A	245850589	3	1	60	1	0	0	0	0	1	0	0	0	8325	1464	51	5	4350	5	KIF26B	1	245850589	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	16282807	245850589	3400032	7	7241											
KIF3C	3797	broad.mit.edu	37	chr2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-													atgggctggggcgggcggtgGttgttgttgttgtcatcctc					rs370364677		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1321-1323)del		kinesin family member 3C				2,4264		0,2,2131						1.5	1			92	6,8248		0,6,4121	no	coding	KIF3C	NM_002254.6		0,8,6252	A1A1,A1R,RR		0.0727,0.0469,0.0639				8,12512				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203464_26203466delGTT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1321_1323delAAC	2.37:g.26203473_26203475delGTT	ENSP00000264712:p.Asn441del					KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1900_1902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Poly-Asn.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1321_1323delAAC	CCDS1719.1																																																																																				0.621	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			7	1119						7	1119	---	---	---	---	-	26203466	GTT	-	26203464	7	5	60	1	0	1	0	1	0	0	0	0	8332	1252	44	0	1090	0	KIF3C	2	26203464	In_Frame_Del	DEL	GTT	TCGA-FZ-5922-01A-11D-1609-08		26203464	216995909	8	7242											
DGUOK	1716	broad.mit.edu	37	chr2	74184338	74184338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctgcatggccaacaCgaagcctggcttattcacaa	10	12	1	0	rs372217661		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:74184338C>T	ENST00000264093.4	+	5	763	c.678C>T	c.(676-678)caC>caT	p.H226H	DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Silent_p.H204H	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	226					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	ATGGCCAACACGAAGCCTGGC	0.478																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(676-678)caC>caT		deoxyguanosine kinase		C	,	0,4406		0,0,2203	78	66	70		678,	-0.8	1	2		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	DGUOK	NM_080916.1,NM_080918.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	226/278,	74184338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74184338C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.678C>T	2.37:g.74184338C>T						DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Silent_p.H204H	p.H226H	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			5	763	+			226					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.678C>T	CCDS1931.1																																																																																				0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			38	187	0	0	0	1	0	38	187					T	74184338	C	T	74184338	2	4	60	1	0	0	0	0	0	0	0	1	4491	535	19	1		1	DGUOK	2	74184338	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	47980874	74184338	169015035	9	7243											
MRPL35	51318	broad.mit.edu	37	chr2	86433365	86433366	+	Frame_Shift_Ins	INS	-	-	A													tttcctccactcccagacttINSaccacatctgagagaaacct							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:86433365_86433366insA	ENST00000337109.4	+	2	214_215	c.180_181insA	c.(181-183)accfs	p.T61fs	MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.T61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.T61fs|MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.T61fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	61					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						CTCCCAGACTTACCACATCTGA	0.406																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(178-183)ctccacfs		mitochondrial ribosomal protein L35																																				SO:0001589	frameshift_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433365_86433366insA	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.181dupA	2.37:g.86433366_86433366dupA	ENSP00000338389:p.Thr61fs					MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.H61fs	p.H61fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			2	214_215	+			61					A6NKV6|B2RB93|Q658U7|Q8WWA2	Frame_Shift_Ins	INS	ENST00000337109.4	37	c.180_181insA	CCDS1988.1																																																																																				0.406	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		169	905						169	905	---	---	---	---	A	86433366	-	A	86433365	7	5	60	1	0	1	1	0	0	0	0	0	9839	1741	61	0	186	0	MRPL35	2	86433365	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	12249027	86433365	156766008	10	7244											
THSD7B	80731	broad.mit.edu	37	chr2	138169334	138169334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcctcaccgaggactgCgggtacaagcagacagcaaa	14	11	1	1	rs564630499		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:138169334C>T	ENST00000409968.1	+	14	3029	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	951	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				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)		CCGAGGACTGCGGGTACAAGC	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18020	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				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						c.(2851-2853)Cgg>Tgg		thrombospondin, type I, domain containing 7B							114	113	113					2																	138169334		1955	4140	6095	SO:0001583	missense	80731							g.chr2:138169334C>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.2851C>T	2.37:g.138169334C>T	ENSP00000387145:p.Arg951Trp					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W	p.R951W						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3029	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2851C>T		.	.	.	.	.	.	.	.	.	.	C	7.438	0.640150	0.14386	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23754	2.42;2.28;1.89	5.62	-2.52	0.06346	.	0.773311	0.12237	N	0.486935	T	0.16214	0.0390	L	0.38531	1.155	0.19300	N	0.99998	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.22556	-1.0213	10	0.49607	T	0.09	.	6.1826	0.20480	0.1751:0.3831:0.0:0.4418	.	951;920	Q9C0I4;C9JKN6	THS7B_HUMAN;.	W	951;951;920	ENSP00000387145:R951W;ENSP00000272643:R951W;ENSP00000413841:R920W	ENSP00000272643:R951W	R	+	1	2	THSD7B	137885804	0.000000	0.05858	0.001000	0.08648	0.393000	0.30537	-0.033000	0.12246	-0.145000	0.11294	-0.259000	0.10710	CGG		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		7	666	0	0	0	1	0	7	666					T	138169334	C	T	138169334	3	4	60	1	0	0	0	0	1	0	0	0	15932	759	27	1	2808	1	THSD7B	2	138169334	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	51735969	138169334	105030039	11	7245											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.213delA	c.(211-213)aaa>aa	p.K71fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e2+1		RNA binding motif protein 43				9,4257		4,1,2128	78	82	81			4.6	1	2		80	6,8248		2,2,4123	no	frameshift-near-splice	RBM43	NM_198557.2		6,3,6251	A1A1,A1R,RR		0.0727,0.211,0.1198			152112048	15,12505	2203	4300	6503	SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112048delT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1A>-	2.37:g.152112048delT							p.K71_splice	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	364	-			71			RRM.		B2RMT5	Splice_Site	DEL	ENST00000331426.5	37	c.214_splice	CCDS2191.1																																																																																				0.289	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Frame_Shift_Del	7	852						7	852	---	---	---	---	-	152112048	T	-	152112048	8	5	60	1	0	1	0	1	0	0	1	0	13187	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-FZ-5922-01A-11D-1609-08	13942714	152112048	91087325	12	7246											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-													tagctcaaataacagcagggAaaaaaaggctgatagagatc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AACAGCAGGGAAAAAAAGGCT	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2035-2037)gafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						61	65	64					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493804delA	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2256	+			679					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.2036delA	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	451						7	451	---	---	---	---	-	170493804	A	-	170493804	7	5	60	1	0	1	0	1	0	0	0	0	12371	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-FZ-5922-01A-11D-1609-08	18381756	170493804	72705569	13	7247											
GMPPA	29926	broad.mit.edu	37	chr2	220371072	220371072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagtgaccctaaccccaacGatccccgagcccgcatggac	8	19	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:220371072G>T	ENST00000358215.3	+	12	1459	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	364					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACCCCAACGATCCCCGAGC	0.657																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1090-1092)Gat>Tat		GDP-mannose pyrophosphorylase A							56	58	58					2																	220371072		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371072G>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1090G>T	2.37:g.220371072G>T	ENSP00000350949:p.Asp364Tyr					GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y	p.D364Y	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	12	1459	+		Renal(207;0.0183)	364					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1090G>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317697	0.40996	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.19394	2.19;2.15;2.19;2.19;2.19	4.5	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.56769	1.78	0.58432	D	0.999999	B;B	0.30104	0.111;0.268	B;B	0.29716	0.068;0.106	T	0.04781	-1.0927	10	0.37606	T	0.19	-12.2674	11.5358	0.50636	0.0889:0.0:0.9111:0.0	.	417;364	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	Y	364;417;364;364;364	ENSP00000315925:D364Y;ENSP00000363027:D417Y;ENSP00000350949:D364Y;ENSP00000363016:D364Y;ENSP00000340760:D364Y	ENSP00000315925:D364Y	D	+	1	0	GMPPA	220079316	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	5.649000	0.67936	2.039000	0.60335	0.557000	0.71058	GAT		0.657	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		89	376	1	0	6.71967e-41	1	7.2402e-41	89	376					T	220371072	G	T	220371072	3	4	60	1	0	0	0	0	1	0	0	0	6523	1058	37	3	1132	3	GMPPA	2	220371072	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	49877268	220371072	22828301	14	7248											
ECEL1	9427	broad.mit.edu	37	chr2	233351013	233351013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgggtcgatgctggcGtccaggttggcggccaggaa	18	9	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:233351013G>A	ENST00000304546.1	-	2	561	c.351C>T	c.(349-351)gaC>gaT	p.D117D	ECEL1_ENST00000409941.1_Silent_p.D117D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	117					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGATGCTGGCGTCCAGGTTGG	0.726																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(349-351)gaC>gaT		endothelin converting enzyme-like 1							10	13	12					2																	233351013		2183	4288	6471	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233351013G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.351C>T	2.37:g.233351013G>A						ECEL1_ENST00000409941.1_Silent_p.D117D	p.D117D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	561	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	117					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.351C>T	CCDS2493.1																																																																																				0.726	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		13	70	0	0	0	1	0	13	70					A	233351013	G	A	233351013	2	1	60	1	0	0	0	0	0	0	0	1	4907	1136	40	1		1	ECEL1	2	233351013	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	12979941	233351013	9848360	15	7249											
UGT1A3	54659	broad.mit.edu	37	chr2	234637991	234637991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacatcaaagaagagaaCtttttcaccctgacaaccta	5	11	2	3	rs200579886	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:234637991C>A	ENST00000482026.1	+	1	238	c.219C>A	c.(217-219)aaC>aaA	p.N73K	UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.N73K|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	73					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AAGAAGAGAACTTTTTCACCC	0.517													C|||	3	0.000599042	0.0	0.0043	5008	,	,		21736	0.0		0.0	False		,,,				2504	0.0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(217-219)aaC>aaA				C	,,,,,,LYS/ASN,,	2,4404	4.2+/-10.8	0,2,2201	107	108	107		,,,,,,219,,	2.3	0.7	2		107	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,94,,	0,4,6499	AA,AC,CC		0.0233,0.0454,0.0308	,,,,,,,,	,,,,,,73/535,,	234637991	4,13002	2203	4300	6503	SO:0001583	missense	0							g.chr2:234637991C>A	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.219C>A	2.37:g.234637991C>A	ENSP00000418532:p.Asn73Lys					UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.N73K	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	238	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.219C>A	CCDS2509.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0	-2.648177	0.00111	4.54E-4	2.33E-4	ENSG00000243135	ENST00000482026	T	0.58506	0.33	4.31	2.31	0.28768	.	.	.	.	.	T	0.21590	0.0520	N	0.01134	-0.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.28522	-1.0041	9	0.07030	T	0.85	.	6.2784	0.20993	0.0:0.5725:0.2153:0.2122	.	73;73	Q5DT01;P35503	.;UD13_HUMAN	K	73	ENSP00000418532:N73K	ENSP00000418532:N73K	N	+	3	2	UGT1A3	234302730	0.000000	0.05858	0.657000	0.29651	0.024000	0.10985	-0.571000	0.05889	0.804000	0.34136	0.580000	0.79431	AAC		0.517	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		8	644	1	0	5.18039e-06	1	5.31946e-06	8	644					A	234637991	C	A	234637991	3	1	60	1	0	0	0	0	1	0	0	0	17000	564	20	3	221	3	UGT1A3	2	234637991	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1286978	234637991	8561382	16	7250											
CTNNB1	1499	broad.mit.edu	37	chr3	41277892	41277892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagctgcaggggtcctctGtgaacttgctcaggacaagg	14	9	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:41277892G>A	ENST00000349496.5	+	12	2136	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	619					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.C619Y(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGGGTCCTCTGTGAACTTGCT	0.438		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	1	Substitution - Missense(1)	p.C619Y(1)	large_intestine(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1855-1857)tGt>tAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						129	135	133					3																	41277892		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41277892G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1856G>A	3.37:g.41277892G>A	ENSP00000344456:p.Cys619Tyr					CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y	p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	12	2136	+			619					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1856G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352586	0.82132	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.040249	0.85682	D	0.000000	T	0.82208	0.4987	M	0.80616	2.505	0.80722	D	1	P;D;P	0.63046	0.837;0.992;0.923	B;D;P	0.65573	0.332;0.936;0.455	T	0.80353	-0.1418	10	0.33940	T	0.23	-14.298	19.6229	0.95667	0.0:0.0:1.0:0.0	.	547;54;619	B4DSW9;P35222-2;P35222	.;.;CTNB1_HUMAN	Y	619;619;619;612;619	ENSP00000385604:C619Y;ENSP00000379486:C619Y;ENSP00000344456:C619Y;ENSP00000411226:C612Y;ENSP00000379488:C619Y	ENSP00000344456:C619Y	C	+	2	0	CTNNB1	41252896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.628000	0.89032	0.655000	0.94253	TGT		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		176	812	0	0	0	1	0	176	812					A	41277892	G	A	41277892	3	1	60	1	0	0	0	0	1	0	0	0	4027	1377	48	2	1898	2	CTNNB1	3	41277892	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		41277892	156744538	17	7251											
CSPG5	10675	broad.mit.edu	37	chr3	47618421	47618421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggcaggagccgttatgCcgcacaaagccactgcggca	13	14	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94	97	96					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		8	865	0	0	0	1	0	8	865					T	47618421	C	T	47618421	2	4	60	1	0	0	0	0	0	0	0	1	3972	726	26	2		2	CSPG5	3	47618421	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	6340529	47618421	150404009	18	7252											
BAP1	8314	broad.mit.edu	37	chr3	52439312	52439312	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctcctctgcaccatcTgagacagggcaagaacacag	10	15	2	2	rs112194987		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:52439312T>G	ENST00000460680.1	-	11	1403		c.e11-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCACCATCTGAGACAGGGC	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"N, Mis, F, S, O"	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.e11-2		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							79	83	82					3																	52439312		2203	4300	6503	SO:0001630	splice_region_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439312T>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.932-2A>C	3.37:g.52439312T>G						BAP1_ENST00000296288.5_Splice_Site		NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1403	-								B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37		CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074700	0.76415	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5477	0.68044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414352	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	6.079000	0.71291	2.186000	0.69663	0.533000	0.62120	.		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron	157	515	0	0	0	1	0	157	515					G	52439312	T	G	52439312	5	3	60	1	0	0	0	0	0	0	1	0	1312	1594	55	4	1287	4	BAP1	3	52439312	Splice_Site	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	4820891	52439312	145583118	19	7253											
DRD3	1814	broad.mit.edu	37	chr3	113890593	113890593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtataccacccagggcaTcaccaaggtggccaccagca	10	15	1	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:113890593T>C	ENST00000460779.1	-	3	536	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000383673.2_Missense_Mutation_p.M83V	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	83					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCCAGGGCATCACCAAGGTG	0.557																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(247-249)Atg>Gtg		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						118	110	113					3																	113890593		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890593T>C		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.247A>G	3.37:g.113890593T>C	ENSP00000419402:p.Met83Val					DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000460779.1_Missense_Mutation_p.M83V	p.M83V	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			2	677	-			83					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.247A>G	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985192	0.74474	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.039827	0.85682	D	0.000000	D	0.82706	0.5095	M	0.79258	2.445	0.80722	D	1	P;P;P;D	0.61697	0.949;0.949;0.949;0.99	P;P;P;D	0.64144	0.786;0.786;0.786;0.922	D	0.85511	0.1197	10	0.87932	D	0	.	14.8765	0.70498	0.0:0.0:0.0:1.0	.	83;83;83;83	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	V	83	ENSP00000419402:M83V;ENSP00000420662:M83V;ENSP00000373169:M83V;ENSP00000295881:M83V	ENSP00000281274:M83V	M	-	1	0	DRD3	115373283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.979000	0.70508	2.104000	0.64026	0.533000	0.62120	ATG		0.557	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		7	740	0	0	0	1	0	7	740					C	113890593	T	C	113890593	3	2	60	1	0	0	0	0	1	0	0	0	4774	1435	50	4	979	4	DRD3	3	113890593	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	61451281	113890593	84131837	20	7254											
RAB6B	51560	broad.mit.edu	37	chr3	133560230	133560230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtgtcccagagctgcagtCgcacctgtctcagggagggc	14	13	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:133560230C>G	ENST00000285208.4	-	4	537	c.188G>C	c.(187-189)cGa>cCa	p.R63P	RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	63					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GAGCTGCAGTCGCACCTGTCT	0.647																																						ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(187-189)cGa>cCa		RAB6B, member RAS oncogene family							83	72	75					3																	133560230		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133560230C>G	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.188G>C	3.37:g.133560230C>G	ENSP00000285208:p.Arg63Pro					RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron	p.R63P	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			4	537	-			63					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.188G>C	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326902	0.81690	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865;ENST00000488969	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.7	4.7	0.59300	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.992;0.995	D	0.88909	0.3358	10	0.87932	D	0	-11.9051	16.7699	0.85534	0.0:1.0:0.0:0.0	.	50;63	B7Z337;Q9NRW1	.;RAB6B_HUMAN	P	63;63;50;30;9;30	ENSP00000285208:R63P;ENSP00000437797:R63P;ENSP00000419381:R50P;ENSP00000419941:R30P;ENSP00000419526:R9P;ENSP00000417433:R30P	ENSP00000285208:R63P	R	-	2	0	RAB6B	135042920	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.138000	0.77305	2.303000	0.77524	0.462000	0.41574	CGA		0.647	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			69	353	0	0	0	1	0	69	353					G	133560230	C	G	133560230	3	3	60	1	0	0	0	0	1	0	0	0	13002	884	31	5	458	5	RAB6B	3	133560230	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	19669637	133560230	64462200	21	7255											
TNIK	23043	broad.mit.edu	37	chr3	170783996	170783996	+	Frame_Shift_Del	DEL	G	G	-													cttatcatttctttcacataGaaactttaacctttgagctc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:170783996delG	ENST00000436636.2	-	32	4323	c.3979delC	c.(3979-3981)ctafs	p.L1327fs	TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1327	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTTCACATAGAAACTTTAAC	0.393																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3979-3981)tafs		TRAF2 and NCK interacting kinase							148	147	147					3																	170783996		1871	4111	5982	SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170783996delG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3979delC	3.37:g.170783996delG	ENSP00000399511:p.Leu1327fs					TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs	p.L1327fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		32	4323	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1327			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.3979delC	CCDS46956.1																																																																																				0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		67	434						67	434	---	---	---	---	-	170783996	G	-	170783996	7	5	60	1	0	1	0	1	0	0	0	0	16365	933	33	0	111	0	TNIK	3	170783996	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08	37223766	170783996	27238434	22	7256											
USP13	8975	broad.mit.edu	37	chr3	179472528	179472528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattttgcagatgtttctAttgatatgccagacctactt	6	9	2	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:179472528A>G	ENST00000263966.3	+	15	2278	c.1807A>G	c.(1807-1809)Att>Gtt	p.I603V	USP13_ENST00000496897.1_Missense_Mutation_p.I538V|USP13_ENST00000482333.1_Intron	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	603	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGATGTTTCTATTGATATGCC	0.443																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1807-1809)Att>Gtt		ubiquitin specific peptidase 13 (isopeptidase T-3)							129	127	127					3																	179472528		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179472528A>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1807A>G	3.37:g.179472528A>G	ENSP00000263966:p.Ile603Val					USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.I538V	p.I603V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		15	2278	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		603					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1807A>G	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	A	9.476	1.096934	0.20552	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.69685	-0.42;-0.42;-0.42	6.06	-0.364	0.12553	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.414552	0.27881	N	0.017477	T	0.38026	0.1025	N	0.10837	0.055	0.32629	N	0.522239	B	0.16603	0.018	B	0.20184	0.028	T	0.45702	-0.9243	10	0.02654	T	1	-6.9124	10.2671	0.43462	0.6864:0.0:0.3136:0.0	.	603	Q92995	UBP13_HUMAN	V	603;538;249	ENSP00000263966:I603V;ENSP00000417146:I538V;ENSP00000420057:I249V	ENSP00000263966:I603V	I	+	1	0	USP13	180955222	0.980000	0.34600	0.591000	0.28745	0.988000	0.76386	1.468000	0.35332	-0.264000	0.09365	-0.297000	0.09499	ATT		0.443	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			16	692	0	0	0	1	0	16	692					G	179472528	A	G	179472528	3	3	60	1	0	0	0	0	1	0	0	0	17098	449	16	4	1865	4	USP13	3	179472528	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	8688532	179472528	18549902	23	7257											
LIAS	6133	broad.mit.edu	37	chr4	39462521	39462521	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagattttgtatctggtgatCttgcagacaggagcacctgg	12	7	2	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:39462521C>G	ENST00000449470.2	-	0	0				RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Missense_Mutation_p.L53V|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V|LIAS_ENST00000513731.1_Missense_Mutation_p.L53V	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ATCTGGTGATCTTGCAGACAG	0.403																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(157-159)Ctt>Gtt		lipoic acid synthetase	Lipoic Acid(DB00166)						86	95	92					4																	39462521		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462521C>G	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462521C>G	Exception_encountered					LIAS_ENST00000340169.2_Missense_Mutation_p.L53V|LIAS_ENST00000513731.1_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V	p.L53V	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	275	+			53						Missense_Mutation	SNP	ENST00000449470.2	37	c.157C>G	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914826	0.33815	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.76709	-1.04;-1.03;-0.97;-1.03	6.06	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	N	0.11724	0.165	0.45076	D	0.998097	D;B;D;B;B	0.76494	0.998;0.012;0.999;0.002;0.104	D;B;D;B;B	0.83275	0.996;0.009;0.994;0.002;0.054	T	0.70733	-0.4791	10	0.20519	T	0.43	-17.8487	12.1762	0.54186	0.0:0.8692:0.0:0.1308	.	53;53;53;53;53	B4E0L7;C9JCF6;D6RCP8;O43766;Q6P5Q6	.;.;.;LIAS_HUMAN;.	V	53	ENSP00000340676:L53V;ENSP00000261434:L53V;ENSP00000425580:L53V;ENSP00000371270:L53V	ENSP00000261434:L53V	L	+	1	0	LIAS	39138916	0.914000	0.31030	1.000000	0.80357	0.979000	0.70002	1.681000	0.37618	2.880000	0.98712	0.650000	0.86243	CTT		0.403	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			134	635	0	0	0	1	0	134	635					G	39462521	C	G	39462521	1	3	60	0	1	0	0	0	0	0	0	0	8810	913	32	5		5	LIAS	4	39462521	5'Flank	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		39462521	151691755	24	7258											
SCFD2	152579	broad.mit.edu	37	chr4	54231749	54231749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctcggccgctgccgcCgctgggacatgattagctgt	12	14	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:54231749C>T	ENST00000401642.3	-	1	493	c.360G>A	c.(358-360)gcG>gcA	p.A120A	SCFD2_ENST00000388940.4_Silent_p.A120A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	120	Poly-Ala.				protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCGCTGCCGCCGCTGGGACAT	0.592																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(358-360)gcG>gcA		sec1 family domain containing 2							44	40	41					4																	54231749		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231749C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.360G>A	4.37:g.54231749C>T						SCFD2_ENST00000388940.4_Silent_p.A120A	p.A120A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	493	-			120			Poly-Ala.		Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.360G>A	CCDS33984.1																																																																																				0.592	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		72	251	0	0	0	1	0	72	251					T	54231749	C	T	54231749	2	4	60	1	0	0	0	0	0	0	0	1	13940	639	23	1		1	SCFD2	4	54231749	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	14769228	54231749	136922527	25	7259											
BTC	685	broad.mit.edu	37	chr4	75681140	75681140	+	Frame_Shift_Del	DEL	G	G	-													cagtaatgcttgtattgcttGgggcacctagagaagtggcc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:75681140delG	ENST00000395743.3	-	3	570	c.210delC	c.(208-210)cccfs	p.P70fs		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	70	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TGTATTGCTTGGGGCACCTAG	0.473																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(208-210)ccfs		betacellulin							237	217	224					4																	75681140		2203	4300	6503	SO:0001589	frameshift_variant	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75681140delG	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.210delC	4.37:g.75681140delG	ENSP00000379092:p.Pro70fs						p.P70fs	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		3	570	-			70			EGF-like.		Q96F48	Frame_Shift_Del	DEL	ENST00000395743.3	37	c.210delC	CCDS3566.1																																																																																				0.473	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			7	1362						7	1362	---	---	---	---	-	75681140	G	-	75681140	7	5	60	1	0	1	0	1	0	0	0	0	1553	1335	47	0	338	0	BTC	4	75681140	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08	21449391	75681140	115473136	26	7260											
DSPP	1834	broad.mit.edu	37	chr4	88534045	88534045	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaccaggcactggagaagAtgctggcctggataattccg	12	10	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:88534045A>T	ENST00000282478.7	+	3	740	c.707A>T	c.(706-708)gAt>gTt	p.D236V	DSPP_ENST00000399271.1_Missense_Mutation_p.D236V|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	236					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)			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)		ACTGGAGAAGATGCTGGCCTG	0.473																																						ENST00000399271.1																			0				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						c.(706-708)gAt>gTt		dentin sialophosphoprotein							105	114	111					4																	88534045		2030	4191	6221	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534045A>T	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.707A>T	4.37:g.88534045A>T	ENSP00000282478:p.Asp236Val					DSPP_ENST00000282478.7_Missense_Mutation_p.D236V|RP11-742B18.1_ENST00000506480.1_RNA	p.D236V	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	827	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	236					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.707A>T	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	8.916	0.959922	0.18507	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92199	-2.99;-2.99	4.59	2.06	0.26882	.	.	.	.	.	D	0.88043	0.6331	L	0.48642	1.525	0.47659	D	0.999486	P	0.37101	0.582	B	0.38803	0.282	D	0.83697	0.0180	9	0.72032	D	0.01	-0.0421	7.8545	0.29474	0.8119:0.0:0.1881:0.0	.	236	Q9NZW4	DSPP_HUMAN	V	236	ENSP00000382213:D236V;ENSP00000282478:D236V	ENSP00000282478:D236V	D	+	2	0	DSPP	88753069	0.968000	0.33430	0.296000	0.24974	0.128000	0.20619	1.284000	0.33249	0.256000	0.21614	0.455000	0.32223	GAT		0.473	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		56	222	0	0	0	1	0	56	222					T	88534045	A	T	88534045	3	4	60	1	0	0	0	0	1	0	0	0	4798	333	12	5	717	5	DSPP	4	88534045	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	12852905	88534045	102620231	27	7261											
DCHS2	54798	broad.mit.edu	37	chr4	155176731	155176731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttatcacaccactcagtGcatcaatctggaatgcttct	6	11	5	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:155176731G>A	ENST00000357232.4	-	21	5515	c.5516C>T	c.(5515-5517)gCa>gTa	p.A1839V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1839	Cadherin 16. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCACTCAGTGCATCAATCTG	0.458																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5515-5517)gCa>gTa		dachsous cadherin-related 2							152	137	142					4																	155176731		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176731G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5516C>T	4.37:g.155176731G>A	ENSP00000349768:p.Ala1839Val						p.A1839V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5515	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1839			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5516C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677861	0.47886	.	.	ENSG00000197410	ENST00000357232	T	0.52983	0.64	5.19	3.41	0.39046	Cadherin (4);Cadherin-like (1);	0.630001	0.14870	N	0.293609	T	0.46964	0.1420	L	0.53249	1.67	0.33806	D	0.627257	P	0.49696	0.927	P	0.49140	0.601	T	0.52366	-0.8585	10	0.16420	T	0.52	.	9.1579	0.37005	0.0788:0.0:0.771:0.1502	.	1839	Q6V1P9	PCD23_HUMAN	V	1839	ENSP00000349768:A1839V	ENSP00000349768:A1839V	A	-	2	0	DCHS2	155396181	0.135000	0.22499	0.000000	0.03702	0.027000	0.11550	2.878000	0.48515	0.650000	0.30769	0.650000	0.86243	GCA		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		46	197	0	0	0	1	0	46	197					A	155176731	G	A	155176731	3	1	60	1	0	0	0	0	1	0	0	0	4299	1319	46	2	3254	2	DCHS2	4	155176731	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	66642686	155176731	35977545	28	7262											
PCDHA9	9752	broad.mit.edu	37	chr5	140230590	140230590	+	Intron	DEL	T	T	-													ttttctagaaatccagcagaTtttttttctgataaagtaaa					rs17844337		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ATCCAGCAGATTTTTTTTCTG	0.279																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(2509-2511)atfs									66	77	74					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	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.2394+116T>-	5.37:g.140230590delT						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		11	1719						11	1719	---	---	---	---	-	140230590	T	-	140230590	6	5	60	0	1	1	0	1	0	0	0	0	11573	1493	52	0		0	PCDHA9	5	140230590	Intron	DEL	T	TCGA-FZ-5922-01A-11D-1609-08		140230590	40684670	29	7263											
PCDHB2	56133	broad.mit.edu	37	chr5	140476009	140476009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccggcgttgagcagCgaggcgctggtgcgcgtgct	18	13	0	1	rs147433427		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140476009C>T	ENST00000194155.4	+	1	1783	c.1635C>T	c.(1633-1635)agC>agT	p.S545S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CGTTGAGCAGCGAGGCGCTGG	0.706																																						ENST00000194155.4																			0				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						c.(1633-1635)agC>agT									35	39	37					5																	140476009		2200	4296	6496	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476009C>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.1635C>T	5.37:g.140476009C>T							p.S545S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1783	+			545			Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1635C>T	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		43	376	0	0	0	1	0	43	376					T	140476009	C	T	140476009	2	4	60	1	0	0	0	0	0	0	0	1	11584	767	27	1		1	PCDHB2	5	140476009	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	245419	140476009	40439251	30	7264											
FAT2	2196	broad.mit.edu	37	chr5	150911268	150911268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccgtgccaggtggggCgtcctcgggcacctgcacgc	14	17	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:150911268C>T	ENST00000261800.5	-	13	9703	c.9691G>A	c.(9691-9693)Gcc>Acc	p.A3231T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3231	Cadherin 29. {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)			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)			CCAGGTGGGGCGTCCTCGGGC	0.677																																						ENST00000261800.5																			0				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						c.(9691-9693)Gcc>Acc		FAT atypical cadherin 2							45	37	39					5																	150911268		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.chr5:150911268C>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.9691G>A	5.37:g.150911268C>T	ENSP00000261800:p.Ala3231Thr						p.A3231T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9703	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3231			Cadherin 29.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9691G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.620|1.620	-0.521644|-0.521644	0.04171|0.04171	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.55413|.	0.52|.	5.21|5.21	1.35|1.35	0.21983|0.21983	Cadherin (3);Cadherin-like (1);|.	0.252780|.	0.29668|.	N|.	0.011513|.	T|T	0.33818|0.33818	0.0876|0.0876	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	B|.	0.18968|.	0.032|.	B|.	0.16722|.	0.016|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.12103|.	T|.	0.63|.	.|.	9.4886|9.4886	0.38944|0.38944	0.0:0.7017:0.0:0.2983|0.0:0.7017:0.0:0.2983	.|.	3231|.	Q9NYQ8|.	FAT2_HUMAN|.	T|H	3231|89	ENSP00000261800:A3231T|.	ENSP00000261800:A3231T|.	A|R	-|-	1|2	0|0	FAT2|FAT2	150891461|150891461	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.115000|0.115000	0.19883|0.19883	-0.032000|-0.032000	0.12266|0.12266	-0.042000|-0.042000	0.13535|0.13535	-0.263000|-0.263000	0.10527|0.10527	GCC|CGC		0.677	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		44	225	0	0	0	1	0	44	225					T	150911268	C	T	150911268	3	4	60	1	0	0	0	0	1	0	0	0	5715	768	27	1	3402	1	FAT2	5	150911268	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	10435259	150911268	30003992	31	7265											
NUP153	9972	broad.mit.edu	37	chr6	17688753	17688753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacctcgcttgtgtctgTtgaacagctgcatacatctt	9	10	2	1	rs138192099		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:17688753T>C	ENST00000262077.2	-	2	207	c.208A>G	c.(208-210)Aca>Gca	p.T70A	NUP153_ENST00000537253.1_Missense_Mutation_p.T70A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	70					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTGTGTCTGTTGAACAGCTG	0.443																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(208-210)Aca>Gca		nucleoporin 153kDa		T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	160	150	153		208	-5.4	0.8	6	dbSNP_134	153	0,8600		0,0,4300	no	missense	NUP153	NM_005124.2	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	70/1476	17688753	1,13005	2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688753T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.208A>G	6.37:g.17688753T>C	ENSP00000262077:p.Thr70Ala					NUP153_ENST00000537253.1_Missense_Mutation_p.T70A	p.T70A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	207	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	70					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.208A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	6.897	0.535033	0.13188	2.27E-4	0.0	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06768	3.26;3.26	5.47	-5.39	0.02664	.	1.131680	0.06738	N	0.777800	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.006;0.003;0.001	T	0.48007	-0.9072	10	0.32370	T	0.25	0.0183	3.9755	0.09472	0.1172:0.4447:0.1194:0.3187	.	70;92;70	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	A	70;92;70	ENSP00000262077:T70A;ENSP00000444029:T70A	ENSP00000262077:T70A	T	-	1	0	NUP153	17796732	0.214000	0.23563	0.822000	0.32727	0.425000	0.31504	-0.801000	0.04550	-0.878000	0.04007	-0.256000	0.11100	ACA		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			41	721	0	0	0	1	0	41	721					C	17688753	T	C	17688753	3	2	60	1	0	0	0	0	1	0	0	0	10797	1725	60	4	4303	4	NUP153	6	17688753	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08		17688753	153426314	32	7266											
BAT4	7918	broad.mit.edu	37	chr6	31631675	31631675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctctccctgaccatgCgggctacctcagggaagcca	11	15	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:31631675C>T	ENST00000375906.1	-	3	1265	c.581G>A	c.(580-582)cGc>cAc	p.R194H	GPANK1_ENST00000375900.4_Missense_Mutation_p.R194H|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.R194H|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.R194H|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.R194H|CSNK2B_ENST00000375866.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	194							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCTGACCATGCGGGCTACCTC	0.607																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(580-582)cGc>cAc		G patch domain and ankyrin repeats 1							86	89	88					6																	31631675		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31631675C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.581G>A	6.37:g.31631675C>T	ENSP00000365071:p.Arg194His					GPANK1_ENST00000375896.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375895.2_Missense_Mutation_p.R194H|GPANK1_ENST00000375900.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375893.2_Missense_Mutation_p.R194H	p.R194H	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			3	1265	-			194					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.581G>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496138	0.85069	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.46	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.315937	0.31747	N	0.007135	T	0.48277	0.1491	L	0.46741	1.465	0.42968	D	0.994425	P	0.47962	0.903	P	0.48952	0.596	T	0.49542	-0.8929	10	0.36615	T	0.2	-2.1712	10.3773	0.44090	0.0:0.9089:0.0:0.0911	.	194	O95872	GPAN1_HUMAN	H	194	ENSP00000365071:R194H;ENSP00000365060:R194H;ENSP00000365057:R194H;ENSP00000365059:R194H;ENSP00000365065:R194H	ENSP00000365057:R194H	R	-	2	0	GPANK1	31739654	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	1.773000	0.38563	1.300000	0.44818	-0.291000	0.09656	CGC		0.607	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		6	489	0	0	0	1	0	6	489					T	31631675	C	T	31631675	3	4	60	1	0	0	0	0	1	0	0	0	1324	768	27	1	497	1	BAT4	6	31631675	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	13942922	31631675	139483392	33	7267											
RING1	6015	broad.mit.edu	37	chr6	33180151	33180151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccactggagctgtgctAtgctcccaccaaggatccaa	10	15	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:33180151A>G	ENST00000374656.4	+	7	1404	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	399	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGCTGTGCTATGCTCCCACC	0.577																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(1195-1197)tAt>tGt		ring finger protein 1							26	22	24					6																	33180151		1508	2708	4216	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33180151A>G		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1196A>G	6.37:g.33180151A>G	ENSP00000363787:p.Tyr399Cys					RING1_ENST00000478431.1_3'UTR	p.Y399C	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			7	1404	+			399			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.1196A>G	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	A	7.108	0.575369	0.13623	.	.	ENSG00000204227	ENST00000374656	D	0.91631	-2.88	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000004	D	0.92011	0.7469	L	0.46157	1.445	0.44547	D	0.9975	D	0.76494	0.999	P	0.62813	0.907	D	0.93243	0.6628	10	0.87932	D	0	-21.6827	12.5707	0.56334	1.0:0.0:0.0:0.0	.	399	Q06587	RING1_HUMAN	C	399	ENSP00000363787:Y399C	ENSP00000363787:Y399C	Y	+	2	0	RING1	33288129	1.000000	0.71417	0.041000	0.18516	0.001000	0.01503	3.901000	0.56303	2.046000	0.60703	0.523000	0.50628	TAT		0.577	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			10	34	0	0	0	1	0	10	34					G	33180151	A	G	33180151	3	3	60	1	0	0	0	0	1	0	0	0	13424	449	16	4	1218	4	RING1	6	33180151	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	1548476	33180151	137934916	34	7268											
COL12A1	1303	broad.mit.edu	37	chr6	75840656	75840656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtgtgtccggaatcagCcgctccagatgcaccatgcg	12	12	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:75840656C>T	ENST00000322507.8	-	36	6288	c.5979G>A	c.(5977-5979)cgG>cgA	p.R1993R	COL12A1_ENST00000416123.2_Silent_p.R1993R|COL12A1_ENST00000345356.6_Silent_p.R829R|COL12A1_ENST00000483888.2_Silent_p.R1993R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1993	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1993R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCGGAATCAGCCGCTCCAGAT	0.537																																						ENST00000322507.8																			1	Substitution - coding silent(1)	p.R1993R(1)	endometrium(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5977-5979)cgG>cgA		collagen, type XII, alpha 1							99	101	100					6																	75840656		2077	4227	6304	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840656C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5979G>A	6.37:g.75840656C>T						COL12A1_ENST00000483888.2_Silent_p.R1993R|COL12A1_ENST00000416123.2_Silent_p.R1993R|COL12A1_ENST00000345356.6_Silent_p.R829R	p.R1993R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6288	-			1993			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5979G>A	CCDS43482.1																																																																																				0.537	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	387	0	0	0	1	0	5	387					T	75840656	C	T	75840656	2	4	60	1	0	0	0	0	0	0	0	1	3678	726	26	2		2	COL12A1	6	75840656	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	42660505	75840656	95274411	35	7269											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		5	473	0	0	0	1	0	5	473					A	150715311	G	A	150715311	3	1	60	1	0	0	0	0	1	0	0	0	7962	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	74874655	150715311	20399756	36	7270											
MAP3K4	4216	broad.mit.edu	37	chr6	161529826	161529826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaactgcagacgaaTtgaaaatattcgaaggcatc	9	7	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:161529826T>C	ENST00000392142.4	+	22	4319	c.4171T>C	c.(4171-4173)Ttg>Ctg	p.L1391L	MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L|MAP3K4_ENST00000366919.2_Silent_p.L1341L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGACGAATTGAAAATATT	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4171-4173)Ttg>Ctg		mitogen-activated protein kinase kinase kinase 4							165	160	162					6																	161529826		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529826T>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4171T>C	6.37:g.161529826T>C						MAP3K4_ENST00000366919.2_Silent_p.L1341L|MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L	p.L1391L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4319	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1391			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4171T>C	CCDS34565.1																																																																																				0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			167	579	0	0	0	1	0	167	579					C	161529826	T	C	161529826	2	2	60	1	0	0	0	0	0	0	0	1	9293	1490	52	4		4	MAP3K4	6	161529826	Silent	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	10814515	161529826	9585241	37	7271											
SUN1	23353	broad.mit.edu	37	chr7	897577	897577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccggctgtgagacagtgGatgccgtacaagaaagagtg	15	7	0	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:897577G>A	ENST00000405266.1	+	14	1642	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SUN1_ENST00000456758.2_Missense_Mutation_p.D692N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	530					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.D420N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGACAGTGGATGCCGTACA	0.458																																						ENST00000456758.2																			1	Substitution - Missense(1)	p.D420N(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2074-2076)Gat>Aat		Sad1 and UNC84 domain containing 1							127	136	133					7																	897577		1972	4144	6116	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897577G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1618G>A	7.37:g.897577G>A	ENSP00000384116:p.Asp540Asn					SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000405266.1_Missense_Mutation_p.D540N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N	p.D692N			O94901	SUN1_HUMAN			19	2074	+			530			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2074G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.849577|2.849577	0.51270|0.51270	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.26223|.	2.03;2.09;2.1;2.09;2.09;2.09;1.75;1.8|.	4.84|4.84	3.0|3.0	0.34707|0.34707	.|.	0.259166|.	0.35525|.	N|.	0.003149|.	T|T	0.55513|0.55513	0.1925|0.1925	M|M	0.73598|0.73598	2.24|2.24	0.09310|0.09310	N|N	0.999999|0.999999	D;D;P;D;P;D|.	0.67145|.	0.991;0.996;0.952;0.991;0.799;0.986|.	P;P;P;P;B;P|.	0.60886|.	0.59;0.786;0.612;0.748;0.318;0.88|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.72032|.	D|.	0.01|.	-8.9673|-8.9673	9.6429|9.6429	0.39850|0.39850	0.1425:0.0:0.8575:0.0|0.1425:0.0:0.8575:0.0	.|.	301;400;503;692;530;420|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	N|E	692;420;400;540;503;530;420;428;301|351	ENSP00000388743:D692N;ENSP00000374225:D420N;ENSP00000413439:D400N;ENSP00000384116:D540N;ENSP00000384015:D503N;ENSP00000392309:D420N;ENSP00000409909:D428N;ENSP00000389313:D301N|.	ENSP00000297445:D530N|.	D|G	+|+	1|2	0|0	SUN1|SUN1	864103|864103	0.020000|0.020000	0.18652|0.18652	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.074000|1.074000	0.30703|0.30703	0.542000|0.542000	0.28846|0.28846	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.458	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		168	788	0	0	0	1	0	168	788					A	897577	G	A	897577	3	1	60	1	0	0	0	0	1	0	0	0	15443	1174	41	2	1740	2	SUN1	7	897577	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		897577	158241086	38	7272											
NDUFA4	4697	broad.mit.edu	37	chr7	10979660	10979660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgctcggatgcttcttggCctgaccgatgatctggcgga	13	11	2	2	rs368918684		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:10979660C>T	ENST00000339600.5	-	1	223	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGCTTCTTGGCCTGACCGATG	0.552																																						ENST00000339600.5																			0				large_intestine(2)|lung(1)	3						c.(25-27)Gcc>Acc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	NADH(DB00157)	C	THR/ALA	0,4406		0,0,2203	200	176	184		25	4	1	7		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDUFA4	NM_002489.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	9/82	10979660	1,13005	2203	4300	6503	SO:0001583	missense	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979660C>T	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit"	603833	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.25G>A	7.37:g.10979660C>T	ENSP00000339720:p.Ala9Thr					NDUFA4_ENST00000492822.1_5'UTR	p.A9T	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	223	-			9					A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	c.25G>A	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804259	0.31869	0.0	1.16E-4	ENSG00000189043	ENST00000339600	T	0.77877	-1.13	4.9	4.02	0.46733	.	0.138995	0.50627	D	0.000120	T	0.67154	0.2863	.	.	.	0.34989	D	0.754847	B	0.15719	0.014	B	0.16722	0.016	T	0.68784	-0.5317	9	0.32370	T	0.25	-12.8223	10.9216	0.47167	0.1873:0.8127:0.0:0.0	.	9	O00483	NDUA4_HUMAN	T	9	ENSP00000339720:A9T	ENSP00000339720:A9T	A	-	1	0	NDUFA4	10946185	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	2.226000	0.42963	1.439000	0.47511	-0.196000	0.12772	GCC		0.552	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		89	1070	0	0	0	1	0	89	1070					T	10979660	C	T	10979660	3	4	60	1	0	0	0	0	1	0	0	0	10308	739	26	2	236	2	NDUFA4	7	10979660	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	10082083	10979660	148159003	39	7273											
C7orf16	10842	broad.mit.edu	37	chr7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-													cctgaatgttgagtcagaccAaaaaaaaccaaggaggaaag							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142	138	140		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		7	869						7	869	---	---	---	---	-	31735179	A	-	31735179	7	5	60	1	0	1	0	1	0	0	0	0	2385	130	5	0	185	0	C7orf16	7	31735179	Frame_Shift_Del	DEL	A	TCGA-FZ-5922-01A-11D-1609-08	20755519	31735179	127403484	40	7274											
ZNF107	51427	broad.mit.edu	37	chr7	64166850	64166850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggatgagtgtacgggGcacaaaggaggtcataatac	14	6	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:64166850G>A	ENST00000395391.1	+	4	1543	c.168G>A	c.(166-168)ggG>ggA	p.G56G	ZNF107_ENST00000344930.3_Silent_p.G56G|ZNF107_ENST00000423627.1_Silent_p.G56G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGTGTACGGGGCACAAAGGAG	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(166-168)ggG>ggA		zinc finger protein 107							82	73	76					7																	64166850		2203	4300	6503	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166850G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.168G>A	7.37:g.64166850G>A						ZNF107_ENST00000423627.1_Silent_p.G56G|ZNF107_ENST00000344930.3_Silent_p.G56G	p.G56G			Q9UII5	ZN107_HUMAN			4	1543	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	56						Silent	SNP	ENST00000395391.1	37	c.168G>A	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		5	354	0	0	0	1	0	5	354					A	64166850	G	A	64166850	2	1	60	1	0	0	0	0	0	0	0	1	17768	1190	42	2		2	ZNF107	7	64166850	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	32431671	64166850	94971813	41	7275											
HYAL4	23553	broad.mit.edu	37	chr7	123508827	123508827	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatgtttacagacagaagtCaagaaagcttatttccgata	8	6	1	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:123508827C>G	ENST00000223026.4	+	3	1138	c.500C>G	c.(499-501)tCa>tGa	p.S167*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGACAGAAGTCAAGAAAGCTT	0.408																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(499-501)tCa>tGa		hyaluronoglucosaminidase 4							68	72	71					7																	123508827		2203	4299	6502	SO:0001587	stop_gained	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508827C>G	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.500C>G	7.37:g.123508827C>G	ENSP00000223026:p.Ser167*					HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167*	p.S167*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	1138	+			167					D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	ENST00000223026.4	37	c.500C>G	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914650	0.33815	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	.	.	.	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3562	11.6812	0.51458	0.0:0.8081:0.1241:0.0678	.	.	.	.	X	167	.	.	S	+	2	0	HYAL4	123296063	0.947000	0.32204	1.000000	0.80357	0.006000	0.05464	2.175000	0.42491	1.427000	0.47276	-0.136000	0.14681	TCA		0.408	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		113	496	0	0	0	1	0	113	496					G	123508827	C	G	123508827	4	3	60	1	0	0	0	0	0	1	0	0	7496	838	29	5	502	5	HYAL4	7	123508827	Nonsense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	59341977	123508827	35629836	42	7276											
GRM8	2918	broad.mit.edu	37	chr7	126173847	126173847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagcaagggacccctTtcaccgttttcttcctctcc	7	17	3	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:126173847T>G	ENST00000339582.2	-	9	2397	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	GRM8_ENST00000444921.2_Missense_Mutation_p.K530T|GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	530					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGGACCCCTTTCACCGTTTT	0.557										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1588-1590)aAa>aCa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						90	89	89					7																	126173847		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173847T>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1589A>C	7.37:g.126173847T>G	ENSP00000344173:p.Lys530Thr	HNSCC(24;0.065)				GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000444921.2_Missense_Mutation_p.K530T	p.K530T			O00222	GRM8_HUMAN			9	2397	-		Prostate(267;0.186)	530					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1589A>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195203	0.58017	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90261	-2.64;-2.64;-2.64	5.8	5.8	0.92144	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.91912	0.7439	M	0.84433	2.695	0.80722	D	1	P;B	0.45827	0.867;0.061	B;B	0.42282	0.382;0.063	D	0.92881	0.6323	10	0.62326	D	0.03	.	15.3289	0.74190	0.0:0.0:0.0:1.0	.	530;530	O00222-2;O00222	.;GRM8_HUMAN	T	530	ENSP00000344173:K530T;ENSP00000409790:K530T;ENSP00000351142:K530T	ENSP00000344173:K530T	K	-	2	0	GRM8	125961083	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.032000	0.88838	2.226000	0.72624	0.523000	0.50628	AAA		0.557	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			17	669	0	0	0	1	0	17	669					G	126173847	T	G	126173847	3	3	60	1	0	0	0	0	1	0	0	0	6833	1841	64	4	1199	4	GRM8	7	126173847	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	2665020	126173847	32964816	43	7277											
TNPO3	23534	broad.mit.edu	37	chr7	128658021	128658021	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggatttacctgcgttacaAtaacaggtgacaagtctttc	8	9	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:128658021A>T	ENST00000265388.5	-	2	454	c.311T>A	c.(310-312)aTt>aAt	p.I104N	TNPO3_ENST00000393245.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N			Q9Y5L0	TNPO3_HUMAN	transportin 3	104					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTGCGTTACAATAACAGGTGA	0.408																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(310-312)aTt>aAt		transportin 3							132	123	126					7																	128658021		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128658021A>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.311T>A	7.37:g.128658021A>T	ENSP00000265388:p.Ile104Asn					TNPO3_ENST00000265388.5_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N	p.I104N	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			2	684	-			104					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.311T>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215724	0.79352	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.92	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.84219	2.685	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.987;0.999;0.996	D	0.84571	0.0655	10	0.87932	D	0	.	10.0496	0.42208	0.9211:0.0:0.0789:0.0	.	104;104;104	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	N	104;104;38;104;104	ENSP00000376936:I104N;ENSP00000265388:I104N;ENSP00000420089:I38N;ENSP00000418646:I104N;ENSP00000418267:I104N	ENSP00000265388:I104N	I	-	2	0	TNPO3	128445257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	1.079000	0.41038	0.533000	0.62120	ATT		0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		64	303	0	0	0	1	0	64	303					T	128658021	A	T	128658021	3	4	60	1	0	0	0	0	1	0	0	0	16389	101	4	5	2544	5	TNPO3	7	128658021	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	2484174	128658021	30480642	44	7278											
EPHB6	2051	broad.mit.edu	37	chr7	142562188	142562188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccaacgcggcttctaCgtggccttccaggacacggg	11	16	2	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:142562188C>T	ENST00000392957.2	+	7	1417	c.630C>T	c.(628-630)taC>taT	p.Y210Y	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	210	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCGGCTTCTACGTGGCCTTCC	0.657																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(628-630)taC>taT		EPH receptor B6							86	98	94					7																	142562188		2200	4287	6487	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562188C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.630C>T	7.37:g.142562188C>T						EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y	p.Y210Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1417	+	Melanoma(164;0.059)		210					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.630C>T	CCDS5873.2																																																																																				0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			27	1379	0	0	0	1	0	27	1379					T	142562188	C	T	142562188	2	4	60	1	0	0	0	0	0	0	0	1	5196	547	19	1		1	EPHB6	7	142562188	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	13904167	142562188	16576475	45	7279											
PXDNL	137902	broad.mit.edu	37	chr8	52384793	52384793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggtttccttccgcccGgcaggtgaagtagacggtat	14	9	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:52384793G>A	ENST00000356297.4	-	8	866	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	256	Ig-like C2-type 1.				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)			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)				CCTTCCGCCCGGCAGGTGAAG	0.443																																						ENST00000356297.4																			0				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						c.(766-768)Cgg>Tgg		peroxidasin homolog (Drosophila)-like							172	166	168					8																	52384793		1881	4100	5981	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384793G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.766C>T	8.37:g.52384793G>A	ENSP00000348645:p.Arg256Trp					PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W	p.R256W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	866	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	256			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.766C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	5.881	0.346632	0.11126	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.75	-1.64	0.08318	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59702	0.2213	M	0.80982	2.52	0.26541	N	0.974078	B	0.33022	0.394	B	0.24848	0.056	T	0.50355	-0.8838	9	0.59425	D	0.04	.	5.0227	0.14369	0.3612:0.1446:0.4942:0.0	.	256	A1KZ92	PXDNL_HUMAN	W	256	ENSP00000348645:R256W;ENSP00000444865:R256W	ENSP00000348645:R256W	R	-	1	2	PXDNL	52547346	0.441000	0.25626	0.000000	0.03702	0.001000	0.01503	0.107000	0.15375	-0.936000	0.03723	-0.236000	0.12185	CGG		0.443	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	660	0	0	0	1	0	6	660					A	52384793	G	A	52384793	3	1	60	1	0	0	0	0	1	0	0	0	12898	1115	39	1	3689	1	PXDNL	8	52384793	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		52384793	93979229	46	7280											
OSR2	116039	broad.mit.edu	37	chr8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G													accatcacggagatggcggcINSggcgcagggcctcgtggacg							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:99961401_99961402insG	ENST00000297565.4	+	2	717_718	c.221_222insG	c.(220-225)gcggcgfs	p.A75fs	OSR2_ENST00000457907.2_Frame_Shift_Ins_p.A196fs|OSR2_ENST00000435298.2_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.A75fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	75					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(220-222)ggcfs		odd-skipped related transciption factor 2																																				SO:0001589	frameshift_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961401_99961402insG	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.223dupG	8.37:g.99961403_99961403dupG	ENSP00000297565:p.Ala75fs					OSR2_ENST00000435298.2_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.G195fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.G74fs	p.G74fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	717_718	+	Breast(36;4.14e-07)		74					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Frame_Shift_Ins	INS	ENST00000297565.4	37	c.221_222insG	CCDS47901.1																																																																																				0.649	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		7	750						7	750	---	---	---	---	G	99961402	-	G	99961401	7	5	60	1	0	1	1	0	0	0	0	0	11336	768	27	0	223	0	OSR2	8	99961401	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	47576608	99961401	46402621	47	7281											
PSAT1	29968	broad.mit.edu	37	chr9	80943962	80943962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacgttcagaagctggCcgccttcatgaaaaaatttt	9	8	2	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:80943962C>T	ENST00000376588.3	+	9	1141	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	358					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGAAGCTGGCCGCCTTCATG	0.418																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(1072-1074)gCc>gTc		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						95	90	92					9																	80943962		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80943962C>T	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.1073C>T	9.37:g.80943962C>T	ENSP00000365773:p.Ala358Val					PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V	p.A358V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			9	1141	+			358					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.1073C>T	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320249	0.23994	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.60548	0.18;0.18	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	N	0.16098	0.37	0.80722	D	1	B;P	0.37122	0.313;0.583	B;B	0.27887	0.084;0.042	T	0.41858	-0.9485	10	0.02654	T	1	-26.2845	19.6837	0.95973	0.0:1.0:0.0:0.0	.	312;358	Q9Y617-2;Q9Y617	.;SERC_HUMAN	V	182;312;358	ENSP00000317606:A312V;ENSP00000365773:A358V	ENSP00000317606:A312V	A	+	2	0	PSAT1	80133782	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	5.969000	0.70422	2.825000	0.97269	0.655000	0.94253	GCC		0.418	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		6	420	0	0	0	1	0	6	420					T	80943962	C	T	80943962	3	4	60	1	0	0	0	0	1	0	0	0	12691	739	26	2	1107	2	PSAT1	9	80943962	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		80943962	60269469	48	7282											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.34	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		8	531						8	531	---	---	---	---	-	100455964	TTC	-	100455962	7	5	60	1	0	1	0	1	0	0	0	0	17494	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-FZ-5922-01A-11D-1609-08	19512000	100455962	40757469	49	7283											
TGFBR1	7046	broad.mit.edu	37	chr9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctaggcttacagcattgcGgattaagaaaacattatcgc	9	8	0	1	rs113605875		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in LDS1). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16928994}.|R -> Q (in LDS1). {ECO:0000269|PubMed:16791849, ECO:0000269|PubMed:16928994, ECO:0000269|PubMed:22113417}.|R -> W (in LDS1). {ECO:0000269|PubMed:16928994}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27	GRCh37	CM050757|CM063198	TGFBR1	M	rs113605875	c.(1459-1461)cGg>cAg		transforming growth factor, beta receptor 1							87	79	82					9																	101911535		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101911535G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1460G>A	9.37:g.101911535G>A	ENSP00000364133:p.Arg487Gln					TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	p.R487Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			9	1577	+		Acute lymphoblastic leukemia(62;0.0559)	487		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).	Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1460G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907570	0.92107	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.916;0.999	D	0.95213	0.8327	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	410;487	P36897-3;P36897	.;TGFR1_HUMAN	Q	487;449;410;491;418	ENSP00000364133:R487Q;ENSP00000364129:R410Q;ENSP00000447297:R491Q;ENSP00000450052:R418Q	ENSP00000364129:R410Q	R	+	2	0	TGFBR1	100951356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CGG		0.373	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			53	165	0	0	0	1	0	53	165					A	101911535	G	A	101911535	3	1	60	1	0	0	0	0	1	0	0	0	15873	1116	39	1	1494	1	TGFBR1	9	101911535	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	1455573	101911535	39301896	50	7284											
GRIN3A	116443	broad.mit.edu	37	chr9	104432526	104432526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaacaagagggcataaCagatgttcaaggctgaagaa	11	7	1	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:104432526C>G	ENST00000361820.3	-	3	2768	c.2168G>C	c.(2167-2169)tGt>tCt	p.C723S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	723					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GAGGGCATAACAGATGTTCAA	0.433																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2167-2169)tGt>tCt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						116	114	114					9																	104432526		2202	4300	6502	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432526C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2168G>C	9.37:g.104432526C>G	ENSP00000355155:p.Cys723Ser						p.C723S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2768	-		Acute lymphoblastic leukemia(62;0.0568)	723					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2168G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052266	0.75960	.	.	ENSG00000198785	ENST00000361820	T	0.48201	0.82	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.31157	0.91	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.42899	-0.9424	10	0.12430	T	0.62	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	723	Q8TCU5	NMD3A_HUMAN	S	723	ENSP00000355155:C723S	ENSP00000355155:C723S	C	-	2	0	GRIN3A	103472347	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	TGT		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			6	610	0	0	0	1	0	6	610					G	104432526	C	G	104432526	3	3	60	1	0	0	0	0	1	0	0	0	6813	478	17	5	1207	5	GRIN3A	9	104432526	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	2520991	104432526	36780905	51	7285											
GDI2	2665	broad.mit.edu	37	chr10	5808002	5808002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatgtcattcttcttgcgCttcatttcctcaaagtcaaa	5	10	6	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:5808002C>T	ENST00000380191.4	-	11	1595	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	GDI2_ENST00000380132.4_Silent_p.K439K|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Silent_p.K390K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	435					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TCTTCTTGCGCTTCATTTCCT	0.348																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1303-1305)aaG>aaA		GDP dissociation inhibitor 2							240	212	221					10																	5808002		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808002C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1305G>A	10.37:g.5808002C>T						GDI2_ENST00000380132.4_Silent_p.K439K|GDI2_ENST00000380181.3_Silent_p.K390K|GDI2_ENST00000479928.1_5'UTR	p.K435K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			11	1595	-			435					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.1305G>A	CCDS7071.1																																																																																				0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		145	770	0	0	0	1	0	145	770					T	5808002	C	T	5808002	2	4	60	1	0	0	0	0	0	0	0	1	6350	796	28	2		2	GDI2	10	5808002	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		5808002	129726745	52	7286											
IL2RA	3559	broad.mit.edu	37	chr10	6067953	6067953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggctttgaatgtggCgtgtgggatctctggcgggt	18	7	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:6067953C>T	ENST00000379959.3	-	2	273	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T|RP11-536K7.5_ENST00000440436.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	34	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGAATGTGGCGTGTGGGATC	0.478																																						ENST00000379959.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(100-102)Gcc>Acc		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						117	101	107					10																	6067953		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6067953C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.100G>A	10.37:g.6067953C>T	ENSP00000369293:p.Ala34Thr					RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T	p.A34T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN			2	273	-			34			Sushi 1.		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.100G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037140	0.75617	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.65916	-0.18;-0.18;-0.18	4.81	4.81	0.61882	Complement control module (2);Sushi/SCR/CCP (3);	0.103338	0.42964	D	0.000624	T	0.75598	0.3871	M	0.64404	1.975	0.36553	D	0.87198	D;D	0.89917	0.996;1.0	P;D	0.91635	0.788;0.999	T	0.81228	-0.1028	10	0.87932	D	0	-21.561	13.5691	0.61836	0.0:1.0:0.0:0.0	.	34;34	Q5W005;P01589	.;IL2RA_HUMAN	T	34;20;34;34	ENSP00000369293:A34T;ENSP00000369287:A34T;ENSP00000256876:A34T	ENSP00000256876:A34T	A	-	1	0	IL2RA	6107959	0.965000	0.33210	0.451000	0.26982	0.007000	0.05969	3.001000	0.49488	2.649000	0.89929	0.650000	0.86243	GCC		0.478	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		70	339	0	0	0	1	0	70	339					T	6067953	C	T	6067953	3	4	60	1	0	0	0	0	1	0	0	0	7716	768	27	1	746	1	IL2RA	10	6067953	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	259951	6067953	129466794	53	7287											
TMEM26	219623	broad.mit.edu	37	chr10	63170199	63170199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactctcagaggtctgtgCccggcaaccatgttctcctt	8	16	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:63170199C>T	ENST00000399298.3	-	6	1356	c.988G>A	c.(988-990)Gca>Aca	p.A330T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	330						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGTCTGTGCCCGGCAACCA	0.597																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(988-990)Gca>Aca		transmembrane protein 26							76	82	80					10																	63170199		1976	4156	6132	SO:0001583	missense	219623					integral to membrane		g.chr10:63170199C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.988G>A	10.37:g.63170199C>T	ENSP00000382237:p.Ala330Thr					TMEM26_ENST00000507507.1_5'UTR	p.A330T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1356	-	Prostate(12;0.0112)		330					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.988G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426610	0.11987	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.65	-5.61	0.02489	.	1.601610	0.03470	N	0.213582	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.11792	-1.0573	9	0.12766	T	0.61	-14.2617	0.6012	0.00745	0.2555:0.2193:0.1483:0.377	.	330	Q6ZUK4	TMM26_HUMAN	T	330	.	ENSP00000382237:A330T	A	-	1	0	TMEM26	62840205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.246000	0.02896	-0.759000	0.04684	-0.812000	0.03155	GCA		0.597	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		7	421	0	0	0	1	0	7	421					T	63170199	C	T	63170199	3	4	60	1	0	0	0	0	1	0	0	0	16203	739	26	2	122	2	TMEM26	10	63170199	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	57102246	63170199	72364548	54	7288											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-													aaggaggccgtcatcttgtgCttcttcttcttctcctcaca							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		9	647						9	647	---	---	---	---	-	72358624	CTT	-	72358622	7	5	60	1	0	1	0	1	0	0	0	0	12525	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-FZ-5922-01A-11D-1609-08	9188423	72358622	63176125	55	7289											
C10orf58	84293	broad.mit.edu	37	chr10	82182230	82182230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggagctgtgattatggCcgtgcggaggccaggctgtt	16	7	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:82182230C>T	ENST00000372181.1	+	2	706	c.236C>T	c.(235-237)gCc>gTc	p.A79V	FAM213A_ENST00000372185.1_Missense_Mutation_p.A68V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A79V|FAM213A_ENST00000372188.1_Missense_Mutation_p.A79V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	79	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GTGATTATGGCCGTGCGGAGG	0.488																																						ENST00000372181.1																			0											c.(235-237)gCc>gTc		family with sequence similarity 213, member A							94	104	100					10																	82182230		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82182230C>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"		"chromosome 10 open reading frame 58"	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.236C>T	10.37:g.82182230C>T	ENSP00000361254:p.Ala79Val					FAM213A_ENST00000372188.1_Missense_Mutation_p.A79V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A79V|FAM213A_ENST00000372185.1_Missense_Mutation_p.A68V	p.A79V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			2	706	+			79					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.236C>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828224	0.90955	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.48877	1.53	0.80722	D	1	P	0.49559	0.925	P	0.45138	0.471	T	0.49707	-0.8911	9	0.19147	T	0.46	-2.5793	17.0103	0.86404	0.0:1.0:0.0:0.0	.	79	Q9BRX8	PAMM_HUMAN	V	79;79;68;79	.	ENSP00000361254:A79V	A	+	2	0	C10orf58	82172210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.300000	0.78841	2.615000	0.88500	0.655000	0.94253	GCC		0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			5	349	0	0	0	1	0	5	349					T	82182230	C	T	82182230	3	4	60	1	0	0	0	0	1	0	0	0	1615	739	26	2	242	2	C10orf58	10	82182230	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	9823608	82182230	53352517	56	7290											
MARCH5	54708	broad.mit.edu	37	chr10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttacgacaggcacaccGcaaaattctgaattatccag	6	10	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(799-801)cGc>cAc		membrane-associated ring finger (C3HC4) 5							82	78	79					10																	94110927		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94110927G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His						p.R267H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			6	1132	+			267						Missense_Mutation	SNP	ENST00000358935.2	37	c.800G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		6	417	0	0	0	1	0	6	417					A	94110927	G	A	94110927	3	1	60	1	0	0	0	0	1	0	0	0	9345	1087	38	1	822	1	MARCH5	10	94110927	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	11928697	94110927	41423820	57	7291											
PTPRE	5791	broad.mit.edu	37	chr10	129847884	129847884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctggaggaggagatccGtatcagatccgccgacgact	13	12	1	2	rs200125787	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:129847884G>A	ENST00000254667.3	+	6	653	c.374G>A	c.(373-375)cGt>cAt	p.R125H	PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H|PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000471218.1_Silent_p.P123P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	125					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GAGGAGATCCGTATCAGATCC	0.587													G|||	3	0.000599042	0.0	0.0	5008	,	,		17700	0.0		0.001	False		,,,				2504	0.002				Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(373-375)cGt>cAt		protein tyrosine phosphatase, receptor type, E							78	73	75					10																	129847884		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129847884G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.374G>A	10.37:g.129847884G>A	ENSP00000254667:p.Arg125His					PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H|PTPRE_ENST00000471218.1_Silent_p.P123P|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H	p.R125H	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			6	653	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	125					Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.374G>A	CCDS7657.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.50	3.404097	0.62288	.	.	ENSG00000132334	ENST00000254667;ENST00000442830;ENST00000439034;ENST00000419012;ENST00000430713;ENST00000455661;ENST00000306042	T;T;T	0.11604	2.76;2.76;2.76	3.53	3.53	0.40419	.	0.000000	0.64402	D	0.000001	T	0.29524	0.0736	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.989;0.993	D;P;P;P	0.76071	0.987;0.749;0.796;0.749	T	0.08086	-1.0739	10	0.66056	D	0.02	.	15.3137	0.74056	0.0:0.0:1.0:0.0	.	103;125;67;125	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	H	125;125;103;125;125;125;67	ENSP00000254667:R125H;ENSP00000402337:R125H;ENSP00000303350:R67H	ENSP00000254667:R125H	R	+	2	0	PTPRE	129737874	1.000000	0.71417	0.895000	0.35142	0.117000	0.20001	6.926000	0.75835	1.993000	0.58246	0.449000	0.29647	CGT		0.587	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			91	406	0	0	0	1	0	91	406					A	129847884	G	A	129847884	3	1	60	1	0	0	0	0	1	0	0	0	12850	1145	40	1	427	1	PTPRE	10	129847884	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	35736957	129847884	5686863	58	7292											
FAM111B	374393	broad.mit.edu	37	chr11	58892674	58892674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagttagacggaggccGcatctgggtaggcggtatgc	15	9	2	1	rs371989300		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		family with sequence similarity 111, member B		G	,,	1,4401	2.1+/-5.4	0,1,2200	68	75	73		1014,1014,1104	-0.8	0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A						FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	p.P368P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1295	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		8	746	0	0	0	1	0	8	746					A	58892674	G	A	58892674	2	1	60	1	0	0	0	0	0	0	0	1	5421	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		58892674	76113842	59	7293											
CD5	921	broad.mit.edu	37	chr11	60892527	60892527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccatcgcaaccacacgGcaaccgtccgatcccatgct	6	18	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:60892527G>A	ENST00000347785.3	+	9	1469	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	435					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAACCACACGGCAACCGTCCG	0.567																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1303-1305)Gca>Aca		CD5 molecule							209	139	162					11																	60892527		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892527G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1303G>A	11.37:g.60892527G>A	ENSP00000342681:p.Ala435Thr						p.A435T	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1469	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	435					A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1303G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619999	0.14193	.	.	ENSG00000110448	ENST00000347785	T	0.30981	1.51	4.25	3.34	0.38264	.	0.657382	0.14022	N	0.346708	T	0.19046	0.0457	N	0.19112	0.55	0.20821	N	0.999844	B	0.06786	0.001	B	0.04013	0.001	T	0.14504	-1.0470	10	0.41790	T	0.15	-9.3097	8.1369	0.31061	0.1115:0.0:0.8885:0.0	.	435	P06127	CD5_HUMAN	T	435	ENSP00000342681:A435T	ENSP00000342681:A435T	A	+	1	0	CD5	60649103	0.062000	0.20869	0.502000	0.27614	0.073000	0.16967	1.775000	0.38584	1.137000	0.42214	0.462000	0.41574	GCA		0.567	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	368	0	0	0	1	0	5	368					A	60892527	G	A	60892527	3	1	60	1	0	0	0	0	1	0	0	0	3030	1203	42	2	1337	2	CD5	11	60892527	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	1999853	60892527	74113989	60	7294											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		7	1326						7	1326	---	---	---	---	-	61607887	TCC	-	61607885	7	5	60	1	0	1	0	1	0	0	0	0	5387	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-FZ-5922-01A-11D-1609-08	715358	61607885	73398631	61	7295											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagatgagcttggagcGcacaaaagggtccttcagca	14	10	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCTTGGAGCGCACAAAAGGG	0.652																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4297-4299)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							133	114	120					11																	64594614		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594614G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4297C>T	11.37:g.64594614G>A	ENSP00000345133:p.Arg1433Cys						p.R1433C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4296	-			1433						Missense_Mutation	SNP	ENST00000342711.5	37	c.4297C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764319	0.69878	.	.	ENSG00000171219	ENST00000342711	T	0.76578	-1.03	4.72	4.72	0.59763	.	0.000000	0.43919	D	0.000518	D	0.87402	0.6168	M	0.82716	2.605	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.88618	0.3161	10	0.87932	D	0	.	10.7952	0.46455	0.0:0.0:0.8108:0.1892	.	1433	Q6DT37	MRCKG_HUMAN	C	1433	ENSP00000345133:R1433C	ENSP00000345133:R1433C	R	-	1	0	CDC42BPG	64351190	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.412000	0.34714	2.352000	0.79861	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		7	805	0	0	0	1	0	7	805					A	64594614	G	A	64594614	3	1	60	1	0	0	0	0	1	0	0	0	3083	1087	38	1	374	1	CDC42BPG	11	64594614	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	2986729	64594614	70411902	62	7296											
FOLH1B	219595	broad.mit.edu	37	chr11	89405142	89405142	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgttgttcatgaaaCtgtgaggagctttggaacac	12	7	1	2	rs3018757		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							208	185	193					11																	89405142		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405142C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405142C>T										Q9HBA9	FOH1B_HUMAN			0	1082	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.433	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	674	0	0	0	1	0	7	674					T	89405142	C	T	89405142	1	4	60	0	1	0	0	0	0	0	0	0	6005	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	24810528	89405142	45601374	63	7297											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	92						7	92	---	---	---	---	C	7080213	-	C	7080212	8	5	60	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-FZ-5922-01A-11D-1609-08		7080212	126771683	64	7298											
CLEC1B	51266	broad.mit.edu	37	chr12	10145836	10145836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgcattttcccattaTgaaaataagcacaattcata	6	7	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:10145836T>C	ENST00000298527.6	-	6	775	c.596A>G	c.(595-597)cAt>cGt	p.H199R	CLEC1B_ENST00000428126.2_Missense_Mutation_p.H166R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTCCCATTATGAAAATAAGC	0.368																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(496-498)cAt>cGt		C-type lectin domain family 1, member B							139	126	130					12																	10145836		1852	4090	5942	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145836T>C	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.596A>G	12.37:g.10145836T>C	ENSP00000298527:p.His199Arg					CLEC1B_ENST00000298527.6_Missense_Mutation_p.H199R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R	p.H166R			Q9P126	CLC1B_HUMAN			7	766	-			199			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.497A>G	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566783	0.28003	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T	0.17854	2.25;2.25;2.25	4.47	0.492	0.16872	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.252357	0.27856	N	0.017568	T	0.12305	0.0299	L	0.59912	1.85	0.27544	N	0.950708	B;B	0.12013	0.004;0.005	B;B	0.21546	0.035;0.014	T	0.23691	-1.0181	10	0.13470	T	0.59	.	2.8078	0.05432	0.1887:0.2176:0.0:0.5937	.	166;199	Q9P126-2;Q9P126	.;CLC1B_HUMAN	R	166;199;166;108	ENSP00000406338:H166R;ENSP00000298527:H199R;ENSP00000327169:H166R	ENSP00000298527:H199R	H	-	2	0	CLEC1B	10037103	0.979000	0.34478	0.999000	0.59377	0.930000	0.56654	0.458000	0.21892	0.552000	0.29026	0.402000	0.26972	CAT		0.368	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		137	671	0	0	0	1	0	137	671					C	10145836	T	C	10145836	3	2	60	1	0	0	0	0	1	0	0	0	3515	1464	51	4	97	4	CLEC1B	12	10145836	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	3065624	10145836	123706059	65	7299											
SOX5	6660	broad.mit.edu	37	chr12	23728637	23728637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggactagctaacgctgctgGgacagaggctttgagggggc	17	8	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:23728637G>C	ENST00000451604.2	-	10	1401	c.1300C>G	c.(1300-1302)Cca>Gca	p.P434A	SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A|SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000546136.1_Missense_Mutation_p.P421A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	434					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AACGCTGCTGGGACAGAGGCT	0.483																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1261-1263)Cca>Gca		SRY (sex determining region Y)-box 5							135	136	136					12																	23728637		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728637G>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1300C>G	12.37:g.23728637G>C	ENSP00000398273:p.Pro434Ala					SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000451604.2_Missense_Mutation_p.P434A|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A	p.P421A			P35711	SOX5_HUMAN			9	1263	-			434					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1261C>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071229	0.76301	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.52	4.63	0.57726	.	0.053759	0.85682	D	0.000000	T	0.58352	0.2116	M	0.80422	2.495	0.80722	D	1	B;P;B	0.44090	0.243;0.826;0.073	B;P;B	0.46850	0.197;0.529;0.088	T	0.64058	-0.6496	10	0.52906	T	0.07	.	14.2486	0.66004	0.0718:0.0:0.9282:0.0	.	399;434;48	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	A	421;421;434;386;399;48;424	ENSP00000437487:P421A;ENSP00000308927:P421A;ENSP00000398273:P434A;ENSP00000439832:P399A;ENSP00000379328:P48A;ENSP00000443520:P424A	ENSP00000308927:P421A	P	-	1	0	SOX5	23619904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.851000	0.92205	1.334000	0.45468	0.591000	0.81541	CCA		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		30	770	0	0	0	1	0	30	770					C	23728637	G	C	23728637	3	2	60	1	0	0	0	0	1	0	0	0	15004	1232	43	5	1015	5	SOX5	12	23728637	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	13582801	23728637	110123258	66	7300											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		22	141	1	0	2.98393e-07	1	3.10572e-07	22	141					A	25398284	C	A	25398284	3	1	60	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1669647	25398284	108453611	67	7301											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	1482						8	1482	---	---	---	---	-	55615116	CTT	-	55615114	7	5	60	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-FZ-5922-01A-11D-1609-08	30216830	55615114	78236781	68	7302											
TXNRD1	7296	broad.mit.edu	37	chr12	104682725	104682725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggacggtcgggccctGgaaggaacgctctcggaatt	15	10	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:104682725G>A	ENST00000525566.1	+	4	345	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000526691.1_Silent_p.L9L|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000542918.1_Silent_p.L7L	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	107	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GTCGGGCCCTGGAAGGAACGC	0.612																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(25-27)ctG>ctA		thioredoxin reductase 1							101	106	104					12																	104682725		1900	4115	6015	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104682725G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.321G>A	12.37:g.104682725G>A						TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000525566.1_Silent_p.L107L|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Silent_p.L7L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000526390.1_5'UTR	p.L9L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			2	483	+			107					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000525566.1	37	c.27G>A	CCDS53820.1																																																																																				0.612	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		121	633	0	0	0	1	0	121	633					A	104682725	G	A	104682725	2	1	60	1	0	0	0	0	0	0	0	1	16861	1335	47	2		2	TXNRD1	12	104682725	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	49067611	104682725	29169170	69	7303											
ACACB	32	broad.mit.edu	37	chr12	109625910	109625910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcctgcacgagtttgCggattcccaatttgggcact	13	10	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:109625910C>T	ENST00000338432.7	+	13	2206	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	696	Biotin carboxylation.				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)			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)	CACGAGTTTGCGGATTCCCAA	0.562																																						ENST00000338432.7																			0				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						c.(2086-2088)gCg>gTg		acetyl-CoA carboxylase beta	Biotin(DB00121)						138	124	129					12																	109625910		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.chr12:109625910C>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.2087C>T	12.37:g.109625910C>T	ENSP00000341044:p.Ala696Val					ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V	p.A696V			O00763	ACACB_HUMAN			13	2206	+			696			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2087C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.204492	0.79127	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81163	-1.46;-1.46;-1.46	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89539	0.6744	M	0.83774	2.66	0.80722	D	1	D	0.58620	0.983	P	0.60117	0.869	D	0.91035	0.4867	10	0.87932	D	0	.	18.6174	0.91308	0.0:1.0:0.0:0.0	.	696	O00763	ACACB_HUMAN	V	696	ENSP00000341044:A696V;ENSP00000367079:A696V;ENSP00000367085:A696V	ENSP00000341044:A696V	A	+	2	0	ACACB	108110293	1.000000	0.71417	0.675000	0.29917	0.220000	0.24768	7.688000	0.84153	2.509000	0.84616	0.531000	0.56144	GCG		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	696	0	0	0	1	0	6	696					T	109625910	C	T	109625910	3	4	60	1	0	0	0	0	1	0	0	0	107	768	27	1	2133	1	ACACB	12	109625910	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	4943185	109625910	24225985	70	7304											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	328	0	0	0	1	0	5	328					A	132547141	G	A	132547141	2	1	60	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	22921231	132547141	1304754	71	7305											
LNX2	222484	broad.mit.edu	37	chr13	28127529	28127529	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattgcaactgcctcactgtGacttaaattggtcaaatcaa	6	10	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:28127529G>A	ENST00000316334.3	-	8	1723	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	532	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCTCACTGTGACTTAAATTG	0.473																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1594-1596)Cac>Tac		ligand of numb-protein X 2							95	89	91					13																	28127529		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28127529G>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1594C>T	13.37:g.28127529G>A	ENSP00000325929:p.His532Tyr						p.H532Y	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	8	1723	-		Lung SC(185;0.0156)	532			PDZ 3.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1594C>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768570	0.49680	.	.	ENSG00000139517	ENST00000316334	T	0.46063	0.88	6.1	6.1	0.99115	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35414	1.06	0.80722	D	1	B	0.31581	0.329	B	0.42214	0.38	T	0.27020	-1.0086	10	0.42905	T	0.14	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	532	Q8N448	LNX2_HUMAN	Y	532	ENSP00000325929:H532Y	ENSP00000325929:H532Y	H	-	1	0	LNX2	27025529	1.000000	0.71417	0.974000	0.42286	0.714000	0.41099	9.476000	0.97823	2.902000	0.99343	0.650000	0.86243	CAC		0.473	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			83	410	0	0	0	1	0	83	410					A	28127529	G	A	28127529	3	1	60	1	0	0	0	0	1	0	0	0	8899	1290	45	2	490	2	LNX2	13	28127529	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		28127529	87042349	72	7306											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	477						7	477	---	---	---	---	T	96783572	-	T	96783571	7	5	60	1	0	1	1	0	0	0	0	0	1095	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08		96783571	10565969	73	7307											
FMN1	342184	broad.mit.edu	37	chr15	33261055	33261055	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgggggtgcaagtccTgggggtggtggagcaggagg	25	4	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:33261055T>G	ENST00000559047.1	-	5	2846	c.2847A>C	c.(2845-2847)ccA>ccC	p.P949P	FMN1_ENST00000334528.9_Silent_p.P726P|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Silent_p.P851P			Q68DA7	FMN1_HUMAN	formin 1	949	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GTGCAAGTCCTGGGGGTGGTG	0.622																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2176-2178)ccA>ccC		formin 1							26	27	27					15																	33261055		1775	3996	5771	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261055T>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2847A>C	15.37:g.33261055T>G						FMN1_ENST00000561249.1_Silent_p.P851P|FMN1_ENST00000559047.1_Silent_p.P949P	p.P726P	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2177	-		all_lung(180;1.14e-07)	949			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.2178A>C																																																																																					0.622	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		14	183	0	0	0	1	0	14	183					G	33261055	T	G	33261055	2	3	60	1	0	0	0	0	0	0	0	1	5974	1567	55	4		4	FMN1	15	33261055	Silent	SNP	T	TCGA-FZ-5922-01A-11D-1609-08		33261055	69270337	74	7308											
DISP2	85455	broad.mit.edu	37	chr15	40662363	40662363	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggagacagtgtatgaCccatcattgcccgcttccca	10	13	1	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:40662363C>G	ENST00000267889.3	+	8	4137	c.4050C>G	c.(4048-4050)gaC>gaG	p.D1350E	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1350					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGTATGACCCATCATTGC	0.637																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(4048-4050)gaC>gaG		dispatched homolog 2 (Drosophila)							99	101	100					15																	40662363		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40662363C>G	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.4050C>G	15.37:g.40662363C>G	ENSP00000267889:p.Asp1350Glu						p.D1350E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	4137	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1350					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.4050C>G	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264877	0.23136	.	.	ENSG00000140323	ENST00000267889	T	0.11604	2.76	5.0	-2.49	0.06403	.	0.055305	0.64402	D	0.000002	T	0.06554	0.0168	N	0.20986	0.625	0.22903	N	0.998586	P	0.46784	0.884	B	0.39152	0.292	T	0.23547	-1.0185	10	0.48119	T	0.1	-30.0653	12.9728	0.58522	0.0:0.2648:0.0:0.7352	.	1350	A7MBM2	DISP2_HUMAN	E	1350	ENSP00000267889:D1350E	ENSP00000267889:D1350E	D	+	3	2	DISP2	38449655	0.001000	0.12720	0.122000	0.21767	0.750000	0.42670	-0.103000	0.10940	-0.732000	0.04856	-0.254000	0.11334	GAC		0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		45	765	0	0	0	1	0	45	765					G	40662363	C	G	40662363	3	3	60	1	0	0	0	0	1	0	0	0	4556	506	18	5	4080	5	DISP2	15	40662363	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	7401308	40662363	61869029	75	7309											
TMEM87A	25963	broad.mit.edu	37	chr15	42520944	42520944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagcgtgttggtgaaatgCcgatacaaagagagttttac	11	5	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Silent_p.R341R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1204-1206)cgG>cgA		transmembrane protein 87A							126	119	121					15																	42520944		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42520944C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1206G>A	15.37:g.42520944C>T						TMEM87A_ENST00000448392.1_Silent_p.R341R	p.R402R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1470	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	402					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1206G>A	CCDS32205.1																																																																																				0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		6	519	0	0	0	1	0	6	519					T	42520944	C	T	42520944	2	4	60	1	0	0	0	0	0	0	0	1	16262	726	26	2		2	TMEM87A	15	42520944	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1858581	42520944	60010448	76	7310											
ADAL	161823	broad.mit.edu	37	chr15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A													ctttctttagattccaaaccINSaaaaaaaagaaacacaaata							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:43641114_43641115insA	ENST00000562188.1	+	8	659_660	c.643_644insA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000422466.2_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.Q188fs|ADAL_ENST00000389651.4_Frame_Shift_Ins_p.Q215fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)aaafs		adenosine deaminase-like																																				SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114_43641115insA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.651dupA	15.37:g.43641122_43641122dupA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs	p.K215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1217_1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Ins	INS	ENST00000562188.1	37	c.643_644insA																																																																																					0.455	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		7	476						7	476	---	---	---	---	A	43641115	-	A	43641114	7	5	60	1	0	1	1	0	0	0	0	0	233	595	21	0	673	0	ADAL	15	43641114	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	1120170	43641114	58890278	77	7311											
PKD1	5310	broad.mit.edu	37	chr16	2159313	2159313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcacgtggtttttgCcccgcacgctcaccacgtgg	10	17	2	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:2159313C>T	ENST00000262304.4	-	15	6063	c.5855G>A	c.(5854-5856)gGc>gAc	p.G1952D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1952	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.		G -> D. {ECO:0000269|PubMed:18837007}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGTTTTTGCCCCGCACGCT	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5854-5856)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							13	15	14					16																	2159313		2127	4181	6308	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159313C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5855G>A	16.37:g.2159313C>T	ENSP00000262304:p.Gly1952Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D	p.G1952D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6063	-			1952		G -> D.	PKD 15.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5855G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	10.49	1.365639	0.24684	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.60920	0.15;0.15	5.33	4.37	0.52481	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.116289	0.56097	D	0.000025	T	0.46560	0.1399	N	0.08118	0	0.26323	N	0.977647	P;P	0.43885	0.82;0.757	B;P	0.50617	0.351;0.646	T	0.42361	-0.9456	10	0.87932	D	0	.	9.8871	0.41268	0.0824:0.1474:0.7702:0.0	.	1952;1952	P98161-3;P98161	.;PKD1_HUMAN	D	1952;1952;231	ENSP00000262304:G1952D;ENSP00000399501:G1952D	ENSP00000262304:G1952D	G	-	2	0	PKD1	2099314	0.997000	0.39634	0.967000	0.41034	0.004000	0.04260	2.853000	0.48317	1.252000	0.44001	-0.341000	0.08007	GGC		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	218	0	0	0	1	0	4	218					T	2159313	C	T	2159313	3	4	60	1	0	0	0	0	1	0	0	0	12005	739	26	2	7184	2	PKD1	16	2159313	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		2159313	88195440	78	7312											
DNAH3	55567	broad.mit.edu	37	chr16	21065824	21065824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagctggacaatctgcGcaatctgatcattgctcttt	8	12	4	1	rs376419884		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:21065824G>A	ENST00000261383.3	-	28	3955	c.3956C>T	c.(3955-3957)gCg>gTg	p.A1319V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1319	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)			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)		GACAATCTGCGCAATCTGATC	0.542																																						ENST00000261383.3																			0				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						c.(3955-3957)gCg>gTg		dynein, axonemal, heavy chain 3		G	VAL/ALA	0,4402		0,0,2201	80	66	70		3956	5.8	1	16		70	3,8597	3.0+/-9.4	0,3,4297	no	missense	DNAH3	NM_017539.1	64	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	benign	1319/4117	21065824	3,12999	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.chr16:21065824G>A	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.3956C>T	16.37:g.21065824G>A	ENSP00000261383:p.Ala1319Val					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V	p.A1319V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	28	3955	-			1319			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3956C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864451	0.51482	0.0	3.49E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.59638	0.25;0.25	5.78	5.78	0.91487	.	0.071257	0.52532	D	0.000063	T	0.50565	0.1623	M	0.61703	1.905	0.40639	D	0.981922	P	0.39181	0.663	B	0.21708	0.036	T	0.59177	-0.7503	10	0.54805	T	0.06	.	15.6915	0.77457	0.0:0.2371:0.7629:0.0	.	1319	Q8TD57	DYH3_HUMAN	V	1319	ENSP00000261383:A1319V;ENSP00000394245:A1319V	ENSP00000261383:A1319V	A	-	2	0	DNAH3	20973325	0.190000	0.23276	1.000000	0.80357	0.968000	0.65278	0.421000	0.21280	2.894000	0.99253	0.591000	0.81541	GCG		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		73	259	0	0	0	1	0	73	259					A	21065824	G	A	21065824	3	1	60	1	0	0	0	0	1	0	0	0	4619	1087	38	1	8533	1	DNAH3	16	21065824	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	18906511	21065824	69288929	79	7313											
ELMO3	79767	broad.mit.edu	37	chr16	67237464	67237484	+	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	TCATTGCCCCCTCCAAGCGGG	-													ggaggaagcgtacctcaactTcattgccccctccaagcggg					rs148378199|rs142297883	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG	ENST00000360833.1	+	18	2093_2113	c.2036_2056delTCATTGCCCCCTCCAAGCGGG	c.(2035-2058)ttcattgccccctccaagcgggag>tag	p.679_686FIAPSKRE>*	ELMO3_ENST00000393997.2_In_Frame_Del_p.696_703FIAPSKRE>*|ELMO3_ENST00000477898.1_In_Frame_Del_p.530_537FIAPSKRE>*|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	643					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TACCTCAACTTCATTGCCCCCTCCAAGCGGGAGGTGAGTGT	0.629																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2086-2109)tag>t		engulfment and cell motility 3																																				SO:0001651	inframe_deletion	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2036_2056delTCATTGCCCCCTCCAAGCGGG	16.37:g.67237464_67237484delTCATTGCCCCCTCCAAGCGGG	ENSP00000354077:p.Phe679_Glu686delins*					ELMO3_ENST00000477898.1_In_Frame_Del_p.FIAPSKRE530del|ELMO3_ENST00000360833.1_In_Frame_Del_p.FIAPSKRE679del	p.FIAPSKRE696del	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2144_2164	+		Ovarian(137;0.0563)	643					B4DV86|Q9H8A5	In_Frame_Del	DEL	ENST00000360833.1	37	c.2087_2107delTCATTGCCCCCTCCAAGCGGG																																																																																					0.629	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		28	436						28	436	---	---	---	---	-	67237484	TCATTGCCCCCTCCAAGCGGG	-	67237464	7	5	60	1	0	1	0	1	0	0	0	0	5085	1783	62	0	2161	0	ELMO3	16	67237464	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	TCGA-FZ-5922-01A-11D-1609-08	46171640	67237464	23117289	80	7314											
ZNF276	92822	broad.mit.edu	37	chr16	89789731	89789731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgggtgcatggacatgCggccagctgcggggccctgc	20	11	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:89789731C>T	ENST00000443381.2	+	4	717	c.620C>T	c.(619-621)gCg>gTg	p.A207V	VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000289816.5_Missense_Mutation_p.A132V|ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATGGACATGCGGCCAGCTGC	0.642																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(394-396)gCg>gTg		zinc finger protein 276							48	48	48					16																	89789731		2197	4300	6497	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789731C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.620C>T	16.37:g.89789731C>T	ENSP00000415836:p.Ala207Val					ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W|ZNF276_ENST00000443381.2_Missense_Mutation_p.A207V	p.A132V	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	707	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	207			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.395C>T	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.220331|4.220331	0.79464|0.79464	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000289816;ENST00000443381|ENST00000446326	T;T|T	0.09073|0.07114	3.02;3.07|3.22	5.6|5.6	4.64|4.64	0.57946|0.57946	.|.	0.054294|.	0.85682|.	D|.	0.000000|.	T|T	0.14874|0.14874	0.0359|0.0359	M|M	0.68952|0.68952	2.095|2.095	0.30534|0.30534	N|N	0.767094|0.767094	D;D|D	0.89917|0.62365	0.998;1.0|0.991	P;D|B	0.83275|0.44315	0.825;0.996|0.446	T|T	0.05989|0.05989	-1.0852|-1.0852	10|9	0.72032|0.87932	D|D	0.01|0	-14.61|-14.61	15.0558|15.0558	0.71912|0.71912	0.1428:0.8572:0.0:0.0|0.1428:0.8572:0.0:0.0	.|.	45;207|4	B4DIT3;Q8N554|A8K186	.;ZN276_HUMAN|.	V|W	132;207|4	ENSP00000289816:A132V;ENSP00000415836:A207V|ENSP00000415999:R4W	ENSP00000289816:A132V|ENSP00000415999:R4W	A|R	+|+	2|1	0|2	ZNF276|ZNF276	88317232|88317232	1.000000|1.000000	0.71417|0.71417	0.054000|0.054000	0.19295|0.19295	0.874000|0.874000	0.50279|0.50279	5.160000|5.160000	0.64929|0.64929	1.368000|1.368000	0.46115|0.46115	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		78	379	0	0	0	1	0	78	379					T	89789731	C	T	89789731	3	4	60	1	0	0	0	0	1	0	0	0	17864	768	27	1	634	1	ZNF276	16	89789731	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	22552267	89789731	565022	81	7315											
NEURL4	84461	broad.mit.edu	37	chr17	7227181	7227181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgctgcgacagttgtggCggagggcggtgcggcccccg	18	13	0	0	rs201553991		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7227181C>A	ENST00000399464.2	-	12	2228	c.2213G>T	c.(2212-2214)cGc>cTc	p.R738L	NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L|NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	738	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAGTTGTGGCGGAGGGCGGT	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2212-2214)cGc>cTc		neuralized E3 ubiquitin protein ligase 4							75	85	82					17																	7227181		2095	4212	6307	SO:0001583	missense	84461							g.chr17:7227181C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2213G>T	17.37:g.7227181C>A	ENSP00000382390:p.Arg738Leu		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L|NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L	p.R738L	NM_032442.2	NP_115818.2					12	2228	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2213G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188290	0.94923	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73258	1.09;-0.73	5.54	5.54	0.83059	NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.85542	2.76	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88077	0.2804	10	0.87932	D	0	-18.6503	18.2515	0.90005	0.0:1.0:0.0:0.0	.	738;738	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	L	738	ENSP00000319826:R738L;ENSP00000382390:R738L	ENSP00000319826:R738L	R	-	2	0	NEURL4	7167905	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.319000	0.79040	2.606000	0.88127	0.655000	0.94253	CGC		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		92	654	1	0	5.5301e-39	1	5.91682e-39	92	654					A	7227181	C	A	7227181	3	1	60	1	0	0	0	0	1	0	0	0	10389	768	27	3	2547	3	NEURL4	17	7227181	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		7227181	73968029	82	7316											
B4GALNT2	124872	broad.mit.edu	37	chr17	47246916	47246916	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatgggctagggaccctactCgtggggtcatgcccagaagt	15	10	1	1	rs148956387	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:47246916C>A	ENST00000300404.2	+	11	1586	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	B4GALNT2_ENST00000393354.2_Silent_p.L449L|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Silent_p.L423L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	509					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGACCCTACTCGTGGGGTCAT	0.522																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1525-1527)ctC>ctA		beta-1,4-N-acetyl-galactosaminyl transferase 2							82	84	83					17																	47246916		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47246916C>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1527C>A	17.37:g.47246916C>A						B4GALNT2_ENST00000393354.2_Silent_p.L449L|B4GALNT2_ENST00000504681.1_Silent_p.L423L	p.L509L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1586	+			509					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1527C>A	CCDS11544.1																																																																																				0.522	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		96	472	1	0	1.54295e-31	1	1.62808e-31	96	472					A	47246916	C	A	47246916	2	1	60	1	0	0	0	0	0	0	0	1	1268	871	31	3		3	B4GALNT2	17	47246916	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	40019735	47246916	33948294	83	7317											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2	rs551732034		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59	50	53					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	224	0	0	0	1	0	4	224					A	77705082	G	A	77705082	3	1	60	1	0	0	0	0	1	0	0	0	5153	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	30458166	77705082	3490128	84	7318											
BAIAP2	10458	broad.mit.edu	37	chr17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgcaatggccgtatgCgggtgaaggccatcttctcc	14	11	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	378	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCGTATGCGGGTGAAGGC	0.642																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1132-1134)Cgg>Tgg		BAI1-associated protein 2							50	48	49					17																	79078379		2202	4299	6501	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79078379C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1132C>T	17.37:g.79078379C>T	ENSP00000316338:p.Arg378Trp					BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W	p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		10	1225	+	all_neural(118;0.101)		378			SH3.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1132C>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889006	0.72524	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37411	1.64;1.66;1.21;1.21;1.65;1.2	4.79	2.58	0.30949	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.91920	3.255	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.6775	13.6331	0.62206	0.3669:0.6331:0.0:0.0	.	241;300;379;378;378;378;378;379;378	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	378;378;378;378;300;241	ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W	ENSP00000315685:R378W	R	+	1	2	BAIAP2	76692974	0.985000	0.35326	1.000000	0.80357	0.889000	0.51656	0.882000	0.28186	1.110000	0.41699	0.484000	0.47621	CGG		0.642	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			5	413	0	0	0	1	0	5	413					T	79078379	C	T	79078379	3	4	60	1	0	0	0	0	1	0	0	0	1302	759	27	1	1170	1	BAIAP2	17	79078379	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1373297	79078379	2116831	85	7319											
C18orf19	125228	broad.mit.edu	37	chr18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-													gcaaaggatcaggctcttccTttttttccggagttccctga							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		8	960						8	960	---	---	---	---	-	13681751	T	-	13681751	7	5	60	1	0	1	0	1	0	0	0	0	1903	1609	56	0	504	0	C18orf19	18	13681751	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08		13681751	64395497	86	7320											
HMHA1	23526	broad.mit.edu	37	chr19	1073261	1073261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtggagacgctcaccGcagccggcaccctcattgcc	10	18	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:1073261G>A	ENST00000313093.2	+	3	766	c.535G>A	c.(535-537)Gca>Aca	p.A179T	HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	179					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GACGCTCACCGCAGCCGGCAC	0.637																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(535-537)Gca>Aca		histocompatibility (minor) HA-1							57	55	56					19																	1073261		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073261G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.535G>A	19.37:g.1073261G>A	ENSP00000316772:p.Ala179Thr					HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T	p.A179T	NM_012292.3	NP_036424.2	Q92619	HMHA1_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)	3	766	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	179					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.535G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594634	0.86953	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.36520	1.46;1.46;1.34;1.25	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.72894	2.215	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;0.996;1.0;0.995	D;P;D;P	0.91635	0.999;0.777;0.998;0.679	T	0.64206	-0.6462	10	0.62326	D	0.03	-15.814	15.0034	0.71492	0.0:0.0:1.0:0.0	.	19;195;62;179	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	T	195;179;179;19;173;62	ENSP00000439601:A195T;ENSP00000316772:A179T;ENSP00000445109:A19T;ENSP00000438979:A62T	ENSP00000316772:A179T	A	+	1	0	HMHA1	1024261	1.000000	0.71417	0.031000	0.17742	0.723000	0.41478	9.148000	0.94652	1.855000	0.53841	0.491000	0.48974	GCA		0.637	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			6	579	0	0	0	1	0	6	579					A	1073261	G	A	1073261	3	1	60	1	0	0	0	0	1	0	0	0	7270	1087	38	1	545	1	HMHA1	19	1073261	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		1073261	58055722	87	7321											
NFIC	4782	broad.mit.edu	37	chr19	3449068	3449068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccattcaacagcccgTccccccaggactctccccgc	6	21	3	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:3449068T>C	ENST00000443272.2	+	7	1066	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000589123.1_Missense_Mutation_p.S330P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	339					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACAGCCCGTCCCCCCAGGA	0.667																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(988-990)Tcc>Ccc		nuclear factor I/C (CCAAT-binding transcription factor)							98	72	81					19																	3449068		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3449068T>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1015T>C	19.37:g.3449068T>C	ENSP00000396843:p.Ser339Pro					NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P	p.S330P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	7	1108	+		Hepatocellular(1079;0.137)	339					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.988T>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506759	0.64410	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.55234	0.53;0.53;0.53	3.96	3.96	0.45880	.	0.072508	0.56097	D	0.000026	T	0.63943	0.2554	L	0.51422	1.61	0.42717	D	0.99366	P;D;P;D;P	0.69078	0.761;0.995;0.718;0.997;0.879	P;D;B;D;P	0.71414	0.478;0.943;0.426;0.973;0.662	T	0.66110	-0.6005	10	0.56958	D	0.05	-8.8863	11.6991	0.51560	0.0:0.0:0.0:1.0	.	339;339;330;339;330	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	P	330;330;306;339;339;339	ENSP00000378543:S330P;ENSP00000301935:S306P;ENSP00000342194:S339P	ENSP00000269778:S339P	S	+	1	0	NFIC	3400068	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	5.412000	0.66392	1.441000	0.47550	0.459000	0.35465	TCC		0.667	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		11	252	0	0	0	1	0	11	252					C	3449068	T	C	3449068	3	2	60	1	0	0	0	0	1	0	0	0	10414	1667	58	4	1048	4	NFIC	19	3449068	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	2375807	3449068	55679915	88	7322											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	203						7	203	---	---	---	---	-	50868838	GCA	-	50868836	7	5	60	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-FZ-5922-01A-11D-1609-08	47419768	50868836	8260147	89	7323											
ZHX3	23051	broad.mit.edu	37	chr20	39832962	39832962	+	Frame_Shift_Del	DEL	T	T	-													attctccttgagtgtatgaaTttttttggcttcagctttgc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr20:39832962delT	ENST00000309060.3	-	4	1010	c.595delA	c.(595-597)attfs	p.I199fs	ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	199					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGTGTATGAATTTTTTTGGCT	0.488																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(595-597)ttfs		zinc fingers and homeoboxes 3							108	106	107					20																	39832962		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832962delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.595delA	20.37:g.39832962delT	ENSP00000312222:p.Ile199fs					ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs	p.I199fs			Q9H4I2	ZHX3_HUMAN			4	1010	-		Myeloproliferative disorder(115;0.00425)	199					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.595delA	CCDS13315.1																																																																																				0.488	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		8	847						8	847	---	---	---	---	-	39832962	T	-	39832962	7	5	60	1	0	1	0	1	0	0	0	0	17730	1493	52	0	2283	0	ZHX3	20	39832962	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08		39832962	23192558	90	7324											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	333						7	333	---	---	---	---	-	27394184	GTG	-	27394182	7	5	60	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-FZ-5922-01A-11D-1609-08		27394182	20735713	91	7325											
SLC5A3	6526	broad.mit.edu	37	chr21	35467569	35467569	+	Frame_Shift_Del	DEL	T	T	-													atcctggtcatgtgcattggTttttttgccatgtggaaatc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:35467569delT	ENST00000381151.3	+	2	584	c.72delT	c.(70-72)ggtfs	p.G24fs	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Frame_Shift_Del_p.G24fs			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	24		Implicated in sodium coupling. {ECO:0000250}.			inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGTGCATTGGTTTTTTTGCCA	0.468																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(70-72)ggfs		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							195	188	191					21																	35467569		2203	4300	6503	SO:0001589	frameshift_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467569delT		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.72delT	21.37:g.35467569delT	ENSP00000370543:p.Gly24fs					MRPS6_ENST00000399312.2_Intron	p.G24fs	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	584	+			24				Implicated in sodium coupling (By similarity).	O43489	Frame_Shift_Del	DEL	ENST00000381151.3	37	c.72delT	CCDS33549.1																																																																																				0.468	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			7	972						7	972	---	---	---	---	-	35467569	T	-	35467569	7	5	60	1	0	1	0	1	0	0	0	0	14716	1712	60	0	74	0	SLC5A3	21	35467569	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08	8073387	35467569	12662326	92	7326											
AGPAT3	56894	broad.mit.edu	37	chr21	45402220	45402220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagactgataggagtaactGagatagaaaaaggctccagc	12	7	0	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:45402220G>A	ENST00000398063.2	+	9	1570	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067). {ECO:0000305}.	CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1078-1080)Gag>Aag		1-acylglycerol-3-phosphate O-acyltransferase 3							140	150	147					21																	45402220		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402220G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1078G>A	21.37:g.45402220G>A	ENSP00000381140:p.Glu360Lys					AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR	p.E360K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1570	+			360	VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).				D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.1078G>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651324	0.67472	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.64	4.64	0.57946	.	0.107744	0.64402	D	0.000008	T	0.81202	0.4773	L	0.41415	1.275	0.80722	D	1	P;B	0.44627	0.839;0.089	P;B	0.56563	0.801;0.062	T	0.79240	-0.1885	10	0.33141	T	0.24	-24.2516	17.7067	0.88310	0.0:0.0:1.0:0.0	.	380;360	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	K	360	ENSP00000291572:E360K;ENSP00000381138:E360K;ENSP00000332989:E360K;ENSP00000381140:E360K;ENSP00000381135:E360K;ENSP00000443510:E360K	ENSP00000291572:E360K	E	+	1	0	AGPAT3	44226648	1.000000	0.71417	0.856000	0.33681	0.918000	0.54935	8.597000	0.90847	2.409000	0.81822	0.563000	0.77884	GAG		0.453	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		206	1003	0	0	0	1	0	206	1003					A	45402220	G	A	45402220	3	1	60	1	0	0	0	0	1	0	0	0	388	1291	45	2	1108	2	AGPAT3	21	45402220	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	9934651	45402220	2727675	93	7327											
PPIL2	29799	broad.mit.edu	37	chr22	22049265	22049265	+	IGR	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacagctcaaggtagccccgGagaccaaagtgaagagcagc	12	12	1	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22049265G>T	ENST00000339468.3	-	0	4329				PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*|PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000335025.8_Nonsense_Mutation_p.E458*|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GGTAGCCCCGGAGACCAAAGT	0.642																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1372-1374)Gag>Tag		peptidylprolyl isomerase (cyclophilin)-like 2							64	74	71					22																	22049265		2203	4300	6503	SO:0001628	intergenic_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22049265G>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"yippee (Drosophila) homolog-like 1"			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22049265G>T						PPIL2_ENST00000335025.7_Nonsense_Mutation_p.E458*|PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*|PPIL2_ENST00000456792.2_Intron	p.E458*			Q13356	PPIL2_HUMAN			19	1432	+	Colorectal(54;0.105)		458					Q65ZA1|Q6GLI6	Nonsense_Mutation	SNP	ENST00000339468.3	37	c.1372G>T	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	G	38	6.651515	0.97734	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000446951	.	.	.	4.06	4.06	0.47325	.	0.454011	0.25135	N	0.032869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.2435	0.65973	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;458;458;238	.	ENSP00000334553:E458X	E	+	1	0	PPIL2	20379265	0.998000	0.40836	0.194000	0.23346	0.341000	0.28922	2.469000	0.45110	2.577000	0.86979	0.650000	0.86243	GAG		0.642	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		142	624	1	0	6.46734e-63	1	7.01776e-63	142	624					T	22049265	G	T	22049265	1	4	60	0	1	0	0	0	0	0	0	0	12374	1175	41	3		3	PPIL2	22	22049265	IGR	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		22049265	29255301	94	7328											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	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.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		9	612						9	612	---	---	---	---	-	26906185	TCA	-	26906183	7	5	60	1	0	1	0	1	0	0	0	0	15859	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-FZ-5922-01A-11D-1609-08	4856918	26906183	24398383	95	7329											
AP1B1	162	broad.mit.edu	37	chr22	29727462	29727462	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcccgtcctccacaaagaGgatgtgcagtgggtacaagg	12	11	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:29727462G>C	ENST00000405198.1	-	18	2531	c.2500C>G	c.(2500-2502)Ctc>Gtc	p.L834V	AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V|AP1B1_ENST00000357586.2_Missense_Mutation_p.L834V|AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	834					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCACAAAGAGGATGTGCAGT	0.577																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2500-2502)Ctc>Gtc		adaptor-related protein complex 1, beta 1 subunit							201	191	194					22																	29727462		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727462G>C	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2500C>G	22.37:g.29727462G>C	ENSP00000384194:p.Leu834Val					AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V|AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000405198.1_Missense_Mutation_p.L834V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V	p.L834V	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			19	2686	-			834					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2500C>G	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737456	0.15574	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.71;1.7;1.74;1.71;1.71	4.51	3.45	0.39498	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.060279	0.64402	N	0.000002	T	0.42426	0.1202	M	0.62088	1.915	0.80722	D	1	P;B;B;B;P;P	0.51351	0.858;0.294;0.294;0.194;0.47;0.944	B;B;B;B;B;P	0.60173	0.432;0.313;0.313;0.079;0.293;0.87	T	0.20806	-1.0264	10	0.30854	T	0.27	-14.8874	13.9467	0.64089	0.0:0.1536:0.8464:0.0	.	387;807;827;834;827;31	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	V	834;827;827;834;807;827;827	ENSP00000350199:L834V;ENSP00000348297:L827V;ENSP00000400065:L827V;ENSP00000384194:L834V;ENSP00000319361:L807V;ENSP00000386071:L827V;ENSP00000387612:L827V	ENSP00000319361:L807V	L	-	1	0	AP1B1	28057462	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	4.615000	0.61190	1.047000	0.40274	0.557000	0.71058	CTC		0.577	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		215	1127	0	0	0	1	0	215	1127					C	29727462	G	C	29727462	3	2	60	1	0	0	0	0	1	0	0	0	731	1000	35	5	369	5	AP1B1	22	29727462	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	2821279	29727462	21577104	96	7330											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38484914	38484914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcccccgccgccgcccGggcgctcgccaaaggagttg	15	18	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:38484914G>A	ENST00000381669.3	-	10	1103	c.959C>T	c.(958-960)cCg>cTg	p.P320L	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gccgccgcccgggcgcTCGCC	0.726																																						ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(958-960)cCg>cTg		BAI1-associated protein 2-like 2							4	5	5					22																	38484914		1681	3642	5323	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38484914G>A	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.959C>T	22.37:g.38484914G>A	ENSP00000371085:p.Pro320Leu						p.P320L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			10	1103	-	Melanoma(58;0.045)		320					B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.959C>T	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946115	0.53079	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T	0.42900	0.96	3.73	0.0867	0.14447	Src homology-3 domain (1);	1.088490	0.06950	N	0.814411	T	0.23330	0.0564	N	0.22421	0.69	0.18873	N	0.999982	B	0.09022	0.002	B	0.04013	0.001	T	0.24225	-1.0166	10	0.23891	T	0.37	-25.1177	1.3183	0.02112	0.1253:0.2933:0.3008:0.2805	.	320	Q6UXY1	BI2L2_HUMAN	L	320;320;11	ENSP00000410074:P11L	ENSP00000371085:P320L	P	-	2	0	BAIAP2L2	36814860	0.377000	0.25106	0.997000	0.53966	0.755000	0.42902	-0.337000	0.07852	0.642000	0.30620	0.462000	0.41574	CCG		0.726	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		3	63	0	0	0	1	0	3	63					A	38484914	G	A	38484914	3	1	60	1	0	0	0	0	1	0	0	0	1304	1116	39	1	650	1	BAIAP2L2	22	38484914	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	8757452	38484914	12819652	97	7331											
BMP15	9210	broad.mit.edu	37	chrX	50659096	50659096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttgagctctggcatgGcacttcatccttggacattg	11	10	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:50659096G>A	ENST00000252677.3	+	2	668	c.668G>A	c.(667-669)gGc>gAc	p.G223D		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	223					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CTCTGGCATGGCACTTCATCC	0.448																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(667-669)gGc>gAc		bone morphogenetic protein 15							154	121	132					X																	50659096		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659096G>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.668G>A	X.37:g.50659096G>A	ENSP00000252677:p.Gly223Asp						p.G223D	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	668	+	Ovarian(276;0.236)		223					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.668G>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.560023	0.00910	.	.	ENSG00000130385	ENST00000252677	T	0.79033	-1.23	5.13	0.985	0.19779	.	1.204080	0.05686	N	0.591429	T	0.72906	0.3519	M	0.64997	1.995	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.55872	-0.8072	10	0.46703	T	0.11	.	4.8746	0.13650	0.2936:0.2843:0.4221:0.0	.	223	O95972	BMP15_HUMAN	D	223	ENSP00000252677:G223D	ENSP00000252677:G223D	G	+	2	0	BMP15	50675836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.002000	0.12924	0.081000	0.16988	-0.497000	0.04613	GGC		0.448	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		5	468	0	0	0	1	0	5	468					A	50659096	G	A	50659096	3	1	60	1	0	0	0	0	1	0	0	0	1460	1203	42	2	674	2	BMP15	23	50659096	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		50659096	104611464	98	7332											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		9	524						9	524	---	---	---	---	-	54011407	CTC	-	54011405	7	5	60	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-FZ-5922-01A-11D-1609-08	3352309	54011405	101259155	99	7333											
LONRF3	79836	broad.mit.edu	37	chrX	118140187	118140187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccattgtgcaaagacGgtctttcacaggtaaatcaa	9	8	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:118140187G>A	ENST00000371628.3	+	6	1550	c.1519G>A	c.(1519-1521)Ggt>Agt	p.G507S	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S|LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	507							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTGCAAAGACGGTCTTTCACA	0.368																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1396-1398)Ggt>Agt		LON peptidase N-terminal domain and ring finger 3							202	189	193					X																	118140187		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118140187G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1519G>A	X.37:g.118140187G>A	ENSP00000360690:p.Gly507Ser					LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S|LONRF3_ENST00000371628.3_Missense_Mutation_p.G507S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S	p.G466S			Q496Y0	LONF3_HUMAN			5	1559	+			507					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1396G>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.658|2.658	-0.280337|-0.280337	0.05642|0.05642	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.15834|.	2.39;2.39;2.39;2.39|.	5.68|5.68	3.89|3.89	0.44902|0.44902	Zinc finger, RING/FYVE/PHD-type (1);|.	0.276612|.	0.35262|.	N|.	0.003335|.	T|T	0.29423|0.29423	0.0733|0.0733	N|N	0.16567|0.16567	0.415|0.415	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19817|.	0.039;0.018;0.021|.	B;B;B|.	0.15052|.	0.005;0.012;0.005|.	T|T	0.18085|0.18085	-1.0348|-1.0348	10|5	0.08381|.	T|.	0.77|.	-30.4685|-30.4685	10.8398|10.8398	0.46708|0.46708	0.1587:0.0:0.8413:0.0|0.1587:0.0:0.8413:0.0	.|.	251;466;507|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	S|Q	466;466;507;251|272	ENSP00000360691:G466S;ENSP00000307732:G466S;ENSP00000360690:G507S;ENSP00000408894:G251S|.	ENSP00000307732:G466S|.	G|R	+|+	1|2	0|0	LONRF3|LONRF3	118024215|118024215	0.386000|0.386000	0.25180|0.25180	0.854000|0.854000	0.33618|0.33618	0.966000|0.966000	0.64601|0.64601	2.033000|2.033000	0.41136|0.41136	1.146000|1.146000	0.42352|0.42352	0.594000|0.594000	0.82650|0.82650	GGT|CGG		0.368	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		267	499	0	0	0	1	0	267	499					A	118140187	G	A	118140187	3	1	60	1	0	0	0	0	1	0	0	0	8934	1116	39	1	1541	1	LONRF3	23	118140187	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	64128782	118140187	37130373	100	7334											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887547	12887547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacagtcaagggctgccGttctctcatccttggacagt	9	12	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:12887547G>A	ENST00000535591.1	-	3	505	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	104					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R104W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAGGGCTGCCGTTCTCTCATC	0.498																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.R104W(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(310-312)Cgg>Tgg		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887547G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.310C>T	1.37:g.12887547G>A	ENSP00000439551:p.Arg104Trp						p.R104W	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	505	-			104						Missense_Mutation	SNP	ENST00000535591.1	37	c.310C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	6.330	0.429024	0.11987	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.15603	2.41;2.41	1.48	-0.964	0.10326	.	1.741890	0.03491	N	0.216651	T	0.11495	0.0280	L	0.51422	1.61	0.09310	N	1	P	0.39282	0.666	B	0.23150	0.044	T	0.24404	-1.0161	10	0.37606	T	0.19	.	2.2748	0.04100	0.2046:0.0:0.5036:0.2918	.	104	O60813	PRA11_HUMAN	W	104;145;104	ENSP00000439551:R104W;ENSP00000391839:R104W	ENSP00000328783:R145W	R	-	1	2	PRAMEF11	12810134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.447000	0.06828	-0.254000	0.09500	0.400000	0.26472	CGG		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		170	1019	0	0	0	0.139131	0	170	1019					A	12887547	G	A	12887547	3	1	61	1	0	0	0	0	1	0	0	0	12474	1144	40	1	1008	1	PRAMEF11	1	12887547	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		12887547	236363074	1	7335											
RNF220	55182	broad.mit.edu	37	chr1	45111155	45111155	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcaagaacagcgacatCgagaagtaagtgtttggcca	11	9	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:45111155C>T	ENST00000355387.2	+	12	1890	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	RNF220_ENST00000361799.2_Silent_p.I480I|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372242.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	480					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ACAGCGACATCGAGAAGTAAG	0.592																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1438-1440)atC>atT		ring finger protein 220							105	90	95					1																	45111155		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45111155C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1440C>T	1.37:g.45111155C>T						TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.I480I	p.I480I			Q5VTB9	RN220_HUMAN			12	1890	+			480					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.1440C>T	CCDS510.1																																																																																				0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		6	225	0	0	0	0.02938	0	6	225					T	45111155	C	T	45111155	2	4	61	1	0	0	0	0	0	0	0	1	13533	874	31	1		1	RNF220	1	45111155	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	32223608	45111155	204139466	2	7336											
AMPD1	270	broad.mit.edu	37	chr1	115222920	115222920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaagtaaaaaattcatatCgtctaagaaggtgtccagat	8	6	2	2	rs587779379		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:115222920C>T	ENST00000520113.2	-	6	841	c.826G>A	c.(826-828)Gat>Aat	p.D276N	AMPD1_ENST00000369538.3_Missense_Mutation_p.D272N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	276					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAATTCATATCGTCTAAGAAG	0.393																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(814-816)Gat>Aat		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						178	164	168					1																	115222920		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222920C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.826G>A	1.37:g.115222920C>T	ENSP00000430075:p.Asp276Asn					AMPD1_ENST00000520113.2_Missense_Mutation_p.D276N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N	p.D272N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	861	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	243					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.814G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	35	5.574521	0.96553	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.93189	-3.18;-3.18;-3.18	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.87578	0.998;0.655	D	0.96505	0.9374	10	0.62326	D	0.03	-26.2208	20.6525	0.99598	0.0:1.0:0.0:0.0	.	272;243	Q5TF02;P23109	.;AMPD1_HUMAN	N	276;272;243	ENSP00000430075:D276N;ENSP00000358551:D272N;ENSP00000316520:D243N	ENSP00000316520:D243N	D	-	1	0	AMPD1	115024443	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.649000	0.83500	2.890000	0.99128	0.585000	0.79938	GAT		0.393	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			14	535	0	0	0	0.175082	0	14	535					T	115222920	C	T	115222920	3	4	61	1	0	0	0	0	1	0	0	0	585	884	31	1	1560	1	AMPD1	1	115222920	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	70111765	115222920	134027701	3	7337											
SEMA6C	10500	broad.mit.edu	37	chr1	151112146	151112146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccctccccttcttcttCggcttgaagatcgaaggaga	9	14	2	3	rs143410634		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:151112146C>T	ENST00000341697.3	-	5	1956	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	89	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTCTTCTTCGGCTTGAAGA	0.572																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(265-267)Gaa>Aaa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	54	52	53		265,265,265	4.1	1	1	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	89/963,89/923,89/931	151112146	1,13005	2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151112146C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.265G>A	1.37:g.151112146C>T	ENSP00000344148:p.Glu89Lys						p.E89K			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	1956	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		89			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.265G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279612	0.40294	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.99	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.461168	0.23296	N	0.049733	T	0.02380	0.0073	N	0.14661	0.345	0.21416	N	0.999699	B;B;B;B	0.27286	0.174;0.004;0.002;0.003	B;B;B;B	0.29942	0.109;0.006;0.002;0.003	T	0.42068	-0.9473	10	0.31617	T	0.26	.	11.4869	0.50358	0.0:0.1812:0.8188:0.0	.	89;89;89;89	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	89	ENSP00000357910:E89K;ENSP00000357908:E89K;ENSP00000357909:E89K;ENSP00000344148:E89K	ENSP00000344148:E89K	E	-	1	0	SEMA6C	149378770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.022000	0.41030	1.354000	0.45846	-0.228000	0.12330	GAA		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		9	231	0	0	0	0.058154	0	9	231					T	151112146	C	T	151112146	3	4	61	1	0	0	0	0	1	0	0	0	14091	893	31	1	2687	1	SEMA6C	1	151112146	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	35889226	151112146	98138475	4	7338											
TCHH	7062	broad.mit.edu	37	chr1	152085461	152085462	+	Frame_Shift_Ins	INS	-	-	A													gcttgagccactttgaaaatINSaaataggaggaattcgttga							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:152085461_152085462insA	ENST00000368804.1	-	2	230_231	c.231_232insT	c.(229-234)tttattfs	p.I78fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			ACTTTGAAAATAAATAGGAGGA	0.485																																						ENST00000368804.1																			0				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						c.(229-234)ttttttfs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085461_152085462insA	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.232dupT	1.37:g.152085464_152085464dupA	ENSP00000357794:p.Ile78fs						p.FF77fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	230_231	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		77			EF-hand 2.|S-100-like.		Q5VUI3	Frame_Shift_Ins	INS	ENST00000368804.1	37	c.231_232insT	CCDS41396.1																																																																																				0.485	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		11	400						11	400	---	---	---	---	A	152085462	-	A	152085461	7	5	61	1	0	1	1	0	0	0	0	0	15752	1406	49	0	5603	0	TCHH	1	152085461	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	973315	152085461	97165160	5	7339											
FMO2	2327	broad.mit.edu	37	chr1	171174741	171174741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattttcccaactgctgaacTtcaagctcgttgggtgacaa	8	11	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:171174741T>A	ENST00000209929.7	+	7	1309	c.1151T>A	c.(1150-1152)cTt>cAt	p.L384H	FMO2_ENST00000441535.1_Missense_Mutation_p.L384H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	383					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGCTGAACTTCAAGCTCGT	0.453																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1150-1152)cTt>cAt		flavin containing monooxygenase 2 (non-functional)							49	48	48					1																	171174741		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174741T>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1151T>A	1.37:g.171174741T>A	ENSP00000209929:p.Leu384His					RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.L384H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	p.L384H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1268	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		384					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1151T>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.823165	0.90873	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.59906	0.23;0.23	5.55	5.55	0.83447	.	0.049545	0.85682	D	0.000000	T	0.81093	0.4751	H	0.97186	3.955	0.46028	D	0.998827	D	0.71674	0.998	D	0.72982	0.979	D	0.87636	0.2519	10	0.87932	D	0	-26.2088	14.9772	0.71283	0.0:0.0:0.0:1.0	.	384	Q99518	FMO2_HUMAN	H	384	ENSP00000209929:L384H;ENSP00000405905:L384H	ENSP00000209929:L384H	L	+	2	0	FMO2	169441365	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	7.986000	0.88173	2.234000	0.73211	0.533000	0.62120	CTT		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		12	218	0	0	0	0.080935	0	12	218					A	171174741	T	A	171174741	3	1	61	1	0	0	0	0	1	0	0	0	5980	1609	56	5	1173	5	FMO2	1	171174741	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	19089280	171174741	78075880	6	7340											
OBSCN	84033	broad.mit.edu	37	chr1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtgtctcttgcagcgCgggaggtgacagtgacaggg	18	9	1	2	rs566340039		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:228467882C>T	ENST00000422127.1	+	29	7710	c.7666C>T	c.(7666-7668)Cgg>Tgg	p.R2556W	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2985W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2556	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17478	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8953-8955)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45	52	49					1																	228467882		2146	4243	6389	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467882C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7666C>T	1.37:g.228467882C>T	ENSP00000409493:p.Arg2556Trp					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2556W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W	p.R2985W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			34	9027	+		Prostate(94;0.0405)	1986			Ig-like 29.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8953C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.745370	0.49151	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.44482	0.92;0.92;0.92	5.35	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70413	0.3221	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;0.998;1.0	T	0.77713	-0.2485	10	0.62326	D	0.03	.	15.2306	0.73383	0.1417:0.8583:0.0:0.0	.	2556;2556;2556	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2556;2556;1403;255	ENSP00000284548:R2556W;ENSP00000409493:R2556W;ENSP00000352613:R1403W	ENSP00000284548:R2556W	R	+	1	2	OBSCN	226534505	0.997000	0.39634	0.755000	0.31263	0.332000	0.28634	3.708000	0.54845	1.211000	0.43351	0.550000	0.68814	CGG		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	331	0	0	0	0.144211	0	26	331					T	228467882	C	T	228467882	3	4	61	1	0	0	0	0	1	0	0	0	10854	759	27	1	7776	1	OBSCN	1	228467882	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	57293141	228467882	20782739	7	7341											
ARID4B	51742	broad.mit.edu	37	chr1	235377172	235377172	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actagcttcatacattttttGatttttccctcgtccatacc	3	12	1	1	rs141973838		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:235377172G>T	ENST00000264183.3	-	17	2250	c.1753C>A	c.(1753-1755)Caa>Aaa	p.Q585K	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.Q585K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	585					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q585K(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACATTTTTTGATTTTTCCCT	0.423																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.Q585K(1)	endometrium(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1753-1755)Caa>Aaa		AT rich interactive domain 4B (RBP1-like)		G	LYS/GLN,LYS/GLN,	0,4406		0,0,2203	285	272	276		1753,1753,	5.5	1	1	dbSNP_134	276	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	53,53,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	585/1313,585/1313,	235377172	1,13005	2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377172G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1753C>A	1.37:g.235377172G>T	ENSP00000264183:p.Gln585Lys					ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.Q585K	p.Q585K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2250	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	585					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1753C>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927324	0.92389	0.0	1.16E-4	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	T;T	0.24151	1.87;1.87	5.5	5.5	0.81552	Chromo domain-like (1);Chromo domain/shadow (1);Tudor domain (1);	0.074065	0.56097	D	0.000023	T	0.38161	0.1030	L	0.33093	0.98	0.58432	D	0.999994	D;D	0.67145	0.996;0.983	P;P	0.59056	0.851;0.824	T	0.04229	-1.0967	10	0.42905	T	0.14	-18.0014	19.403	0.94639	0.0:0.0:1.0:0.0	.	266;585	Q4LE39-4;Q4LE39	.;ARI4B_HUMAN	K	585	ENSP00000355562:Q585K;ENSP00000264183:Q585K	ENSP00000264183:Q585K	Q	-	1	0	ARID4B	233443795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.589000	0.87451	0.650000	0.86243	CAA		0.423	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		8	891	1	0	0.0135373	0.09319	0.0137864	8	891					T	235377172	G	T	235377172	3	4	61	1	0	0	0	0	1	0	0	0	920	1299	45	3	2217	3	ARID4B	1	235377172	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	6909290	235377172	13873449	8	7342											
FMN2	56776	broad.mit.edu	37	chr1	240374520	240374520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctctgatactatctcaaaGacgaaggctaaacaagtgag	8	8	2	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:240374520G>A	ENST00000319653.9	+	6	4280	c.4050G>A	c.(4048-4050)aaG>aaA	p.K1350K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1350	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATCTCAAAGACGAAGGCTA	0.328																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4048-4050)aaG>aaA		formin 2							112	114	114					1																	240374520		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240374520G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4050G>A	1.37:g.240374520G>A							p.K1350K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		6	4280	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1350			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4050G>A	CCDS31069.2																																																																																				0.328	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		18	545	0	0	0	0.175082	0	18	545					A	240374520	G	A	240374520	2	1	61	1	0	0	0	0	0	0	0	1	5975	933	33	2		2	FMN2	1	240374520	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	4997348	240374520	8876101	9	7343											
TMEM214	54867	broad.mit.edu	37	chr2	27259447	27259447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttttgccaacctcacCgagggactgaaaggtaacag	12	10	1	1	rs532355662		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27259447C>T	ENST00000238788.9	+	6	875	c.813C>T	c.(811-813)acC>acT	p.T271T	TMEM214_ENST00000404032.3_Silent_p.T226T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	271					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAACCTCACCGAGGGACTGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20937	0.0		0.0	False		,,,				2504	0.001					ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(811-813)acC>acT		transmembrane protein 214							94	93	94					2																	27259447		1926	4135	6061	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27259447C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.813C>T	2.37:g.27259447C>T						TMEM214_ENST00000404032.3_Silent_p.T226T	p.T271T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			6	875	+			271					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.813C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181700	0.21787	.	.	ENSG00000119777	ENST00000425720	.	.	.	5.36	-2.2	0.06994	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31861	-0.9928	4	.	.	.	-3.7222	4.0227	0.09673	0.1008:0.3716:0.0916:0.436	.	.	.	.	L	30	.	.	P	+	2	0	TMEM214	27112951	0.032000	0.19561	0.992000	0.48379	0.974000	0.67602	-0.752000	0.04797	-0.254000	0.09500	-0.291000	0.09656	CCG		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		63	672	0	0	0	0.139131	0	63	672					T	27259447	C	T	27259447	2	4	61	1	0	0	0	0	0	0	0	1	16189	639	23	1		1	TMEM214	2	27259447	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		27259447	215939926	10	7344											
AGBL5	60509	broad.mit.edu	37	chr2	27276415	27276415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggccacgctgggaaCgcattcgagaccggcccacc	11	19	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27276415C>T	ENST00000360131.4	+	3	520	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(361-363)Cgc>Tgc		ATP/GTP binding protein-like 5							60	61	61					2																	27276415		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276415C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.361C>T	2.37:g.27276415C>T	ENSP00000353249:p.Arg121Cys					AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C	p.R121C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			3	520	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		121					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.361C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284024	0.80803	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.25250	1.81;1.81	5.67	5.67	0.87782	.	0.044935	0.85682	D	0.000000	T	0.64832	0.2634	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75042	-0.3457	10	0.87932	D	0	-5.2161	18.5343	0.91004	0.0:1.0:0.0:0.0	.	121;121;121	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	C	121	ENSP00000323681:R121C;ENSP00000353249:R121C	ENSP00000323681:R121C	R	+	1	0	AGBL5	27129919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.413000	0.59795	2.666000	0.90696	0.561000	0.74099	CGC		0.502	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		39	374	0	0	0	0.086207	0	39	374					T	27276415	C	T	27276415	3	4	61	1	0	0	0	0	1	0	0	0	378	536	19	1	367	1	AGBL5	2	27276415	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	16968	27276415	215922958	11	7345											
NRBP1	29959	broad.mit.edu	37	chr2	27656328	27656328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagtcgccctgtgggcGctggcagaagaggcgagaag	19	8	0	4			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27656328G>A	ENST00000233557.3	+	3	1020	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	63				R -> G (in Ref. 4; BAD96856). {ECO:0000305}.	ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGGGCGCTGGCAGAAG	0.493																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(187-189)cGc>cAc		nuclear receptor binding protein 1							52	50	51					2																	27656328		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27656328G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.188G>A	2.37:g.27656328G>A	ENSP00000233557:p.Arg63His					NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H	p.R63H			Q9UHY1	NRBP_HUMAN			3	1020	+	Acute lymphoblastic leukemia(172;0.155)		63	R -> G (in Ref. 4; BAD96856).				B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.188G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101086	0.94245	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281;ENST00000356442	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99790	1.1031	10	0.87932	D	0	-7.28	15.5895	0.76517	0.0:0.0:1.0:0.0	.	63;63	F8W6G1;Q9UHY1	.;NRBP_HUMAN	H	63;43;63;63;63;63	ENSP00000233557:R63H;ENSP00000369181:R63H;ENSP00000369192:R63H;ENSP00000403916:R63H;ENSP00000415406:R63H	ENSP00000233557:R63H	R	+	2	0	NRBP1	27509832	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.469000	0.83416	0.563000	0.77884	CGC		0.493	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		28	163	0	0	0	0.099896	0	28	163					A	27656328	G	A	27656328	3	1	61	1	0	0	0	0	1	0	0	0	10684	1087	38	1	190	1	NRBP1	2	27656328	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	379913	27656328	215543045	12	7346											
ABCG5	64240	broad.mit.edu	37	chr2	44051560	44051560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttgggtatccactgAcgtcaggtccactaaaagtt	9	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:44051560A>G	ENST00000260645.1	-	8	1055	c.916T>C	c.(916-918)Tca>Cca	p.S306P	ABCG5_ENST00000405322.1_Missense_Mutation_p.S135P|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	306					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|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)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GTATCCACTGACGTCAGGTCC	0.393																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(403-405)Tca>Cca		ATP-binding cassette, sub-family G (WHITE), member 5							108	113	111					2																	44051560		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051560A>G	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.916T>C	2.37:g.44051560A>G	ENSP00000260645:p.Ser306Pro					ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.S306P	p.S135P			Q9H222	ABCG5_HUMAN			5	1299	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	306			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.403T>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625873	0.87560	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.80653	0.39;-1.4	5.75	5.75	0.90469	.	4.144900	0.00424	N	0.000069	D	0.87430	0.6175	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71510	-0.4571	10	0.72032	D	0.01	.	15.7322	0.77814	1.0:0.0:0.0:0.0	.	135;306	E7EX35;Q9H222	.;ABCG5_HUMAN	P	306;135	ENSP00000260645:S306P;ENSP00000384513:S135P	ENSP00000260645:S306P	S	-	1	0	ABCG5	43905064	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.328000	0.90014	2.194000	0.70268	0.533000	0.62120	TCA		0.393	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		67	727	0	0	0	0.139131	0	67	727					G	44051560	A	G	44051560	3	3	61	1	0	0	0	0	1	0	0	0	71	275	10	4	1063	4	ABCG5	2	44051560	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	16395232	44051560	199147813	13	7347											
BIN1	274	broad.mit.edu	37	chr2	127808793	127808794	+	Frame_Shift_Ins	INS	-	-	CCCG													cagccgcaggttgggtcccaINScccgccacctccgaggcctc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:127808793_127808794insCCCG	ENST00000316724.5	-	16	1808_1809	c.1397_1398insCGGG	c.(1396-1398)ggtfs	p.G466fs	BIN1_ENST00000393041.3_Frame_Shift_Ins_p.G348fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.G379fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.G391fs|BIN1_ENST00000259238.4_Frame_Shift_Ins_p.G370fs|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.G312fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.G327fs|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.G355fs|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.G423fs|BIN1_ENST00000348750.4_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	466					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTGGGTCCCACCCGCCACCTC	0.639																																						ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(1396-1398)gggfs		bridging integrator 1																																				SO:0001589	frameshift_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127808793_127808794insCCCG	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1394_1397dupCGGG	2.37:g.127808794_127808797dupCCCG	ENSP00000316779:p.Gly466fs					BIN1_ENST00000259238.4_Frame_Shift_Ins_p.-369fs|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.-311fs|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.-422fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.-378fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.-326fs|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.-354fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393041.3_Frame_Shift_Ins_p.-347fs|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.-390fs	p.-465fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	16	1808_1809	-	Colorectal(110;0.0831)							O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Frame_Shift_Ins	INS	ENST00000316724.5	37	c.1397_1398insCGGG	CCDS2138.1																																																																																				0.639	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		17	308						17	308	---	---	---	---	CCCG	127808794	-	CCCG	127808793	7	5	61	1	0	1	1	0	0	0	0	0	1434	146	6	0	399	0	BIN1	2	127808793	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	83757233	127808793	115390580	14	7348											
CHRNA1	1134	broad.mit.edu	37	chr2	175619033	175619033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaagggaaagtgggtgaCgatgatctcacagtagcttt	12	6	2	2	rs137852807		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:175619033C>T	ENST00000261007.5	-	6	595	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V152I|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	177			V -> L (in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2- fold decrease in gating efficiency). {ECO:0000269|PubMed:12588888}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AAGTGGGTGACGATGATCTCA	0.527																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37	GRCh37	CM030009	CHRNA1	M	rs137852807	c.(454-456)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							169	146	154					2																	175619033		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175619033C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.529G>A	2.37:g.175619033C>T	ENSP00000261007:p.Val177Ile					CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V177I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I	p.V152I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			5	531	-			177					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.454G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409412	0.96072	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.967;0.971;0.999	D	0.84898	0.0840	10	0.31617	T	0.26	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	152;152;177	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	152;177;152;152	ENSP00000261008:V152I;ENSP00000261007:V177I;ENSP00000386611:V152I;ENSP00000386684:V152I	ENSP00000261007:V177I	V	-	1	0	CHRNA1	175327279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GTC		0.527	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			22	386	0	0	0	0.076483	0	22	386					T	175619033	C	T	175619033	3	4	61	1	0	0	0	0	1	0	0	0	3390	536	19	1	939	1	CHRNA1	2	175619033	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	47810240	175619033	67580340	15	7349											
TTN	7273	broad.mit.edu	37	chr2	179569435	179569435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggataattaattttaatgtCaatttcaaagacagcatcat	5	5	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179569435C>T	ENST00000591111.1	-	103	29037	c.28813G>A	c.(28813-28815)Gac>Aac	p.D9605N	TTN_ENST00000589042.1_Missense_Mutation_p.D9922N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13681					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTAATGTCAATTTCAAAG	0.333																																						ENST00000589042.1																			0				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						c.(29764-29766)Gac>Aac		titin							44	40	41					2																	179569435		1808	4072	5880	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569435C>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.28813G>A	2.37:g.179569435C>T	ENSP00000465570:p.Asp9605Asn					TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN_ENST00000591111.1_Missense_Mutation_p.D9605N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.D9922N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	29988	-			9605			Pro-rich.		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.29764G>A		.	.	.	.	.	.	.	.	.	.	C	18.69	3.677742	0.68042	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55016	0.1894	N	0.12182	0.205	0.80722	D	1	P	0.36354	0.549	B	0.37198	0.243	T	0.61481	-0.7054	9	0.87932	D	0	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	9605	Q8WZ42	TITIN_HUMAN	N	8678	ENSP00000343764:D8678N	ENSP00000343764:D8678N	D	-	1	0	TTN	179277680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.872000	0.63050	2.767000	0.95098	0.655000	0.94253	GAC		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	133	0	0	0	0.09319	0	13	133					T	179569435	C	T	179569435	3	4	61	1	0	0	0	0	1	0	0	0	16789	826	29	2	74797	2	TTN	2	179569435	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3950402	179569435	63629938	16	7350											
TTN	7273	broad.mit.edu	37	chr2	179604915	179604915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtctgggggcatcaccaCgttgtcagaatgctcttctt	11	10	5	1	rs140847585		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179604915C>T	ENST00000591111.1	-	46	12318	c.12094G>A	c.(12094-12096)Gtg>Atg	p.V4032M	TTN_ENST00000589042.1_Missense_Mutation_p.V4349M|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4111M|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GGCATCACCACGTTGTCAGAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20411	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(13045-13047)Gtg>Atg		titin							96	93	94					2																	179604915		1892	4120	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604915C>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.12094G>A	2.37:g.179604915C>T	ENSP00000465570:p.Val4032Met					TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4032M|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M|TTN_ENST00000359218.5_Missense_Mutation_p.V4111M	p.V4349M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13269	-			4032			Ig-like 23.		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.13045G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.825	-0.471181	0.04445	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59224	0.33;0.28;0.28	5.79	-7.05	0.01573	.	.	.	.	.	T	0.25606	0.0623	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.17137	-1.0379	9	0.87932	D	0	.	1.9877	0.03439	0.1367:0.2419:0.1332:0.4882	.	3986;4111;4178	D3DPF9;E7EQE6;E7ET18	.;.;.	M	3986;4178;4111;3986	ENSP00000434586:V3986M;ENSP00000340554:V4178M;ENSP00000352154:V4111M	ENSP00000340554:V4178M	V	-	1	0	TTN	179313160	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.041000	0.13927	-0.967000	0.03582	-1.461000	0.01025	GTG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	440	0	0	0	0.139131	0	74	440					T	179604915	C	T	179604915	3	4	61	1	0	0	0	0	1	0	0	0	16789	536	19	1	91744	1	TTN	2	179604915	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	35480	179604915	63594458	17	7351											
SDPR	8436	broad.mit.edu	37	chr2	192701269	192701269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcttccaccttttcctCggcactgtcttccagggcct	6	16	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:192701269C>T	ENST00000304141.4	-	2	987	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ACCTTTTCCTCGGCACTGTCT	0.493																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(658-660)Gag>Aag		serum deprivation response	Phosphatidylserine(DB00144)						112	117	116					2																	192701269		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701269C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.658G>A	2.37:g.192701269C>T	ENSP00000305675:p.Glu220Lys						p.E220K	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	987	-			220						Missense_Mutation	SNP	ENST00000304141.4	37	c.658G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018931	0.35606	.	.	ENSG00000168497	ENST00000304141	T	0.60672	0.17	5.16	5.16	0.70880	.	0.056580	0.64402	D	0.000001	T	0.56046	0.1959	M	0.74881	2.28	0.48341	D	0.999638	P	0.40250	0.709	B	0.27887	0.084	T	0.66791	-0.5834	10	0.66056	D	0.02	-11.3916	18.8456	0.92205	0.0:1.0:0.0:0.0	.	220	O95810	SDPR_HUMAN	K	220	ENSP00000305675:E220K	ENSP00000305675:E220K	E	-	1	0	SDPR	192409514	0.429000	0.25530	0.102000	0.21198	0.015000	0.08874	1.282000	0.33226	2.698000	0.92095	0.563000	0.77884	GAG		0.493	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		60	741	0	0	0	0.139131	0	60	741					T	192701269	C	T	192701269	3	4	61	1	0	0	0	0	1	0	0	0	14020	893	31	1	623	1	SDPR	2	192701269	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	13096354	192701269	50498104	18	7352											
ADAM23	8745	broad.mit.edu	37	chr2	207452819	207452819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcctgtccccagggccGctgctacaatggcgagtgca	13	14	0	0	rs376901578		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:207452819G>A	ENST00000264377.3	+	20	2121	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	598	Cys-rich.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCAGGGCCGCTGCTACAAT	0.498																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1792-1794)cGc>cAc		ADAM metallopeptidase domain 23		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	142	119	127		1793	5.7	1	2		127	0,8600		0,0,4300	no	missense	ADAM23	NM_003812.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	598/833	207452819	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207452819G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1793G>A	2.37:g.207452819G>A	ENSP00000264377:p.Arg598His					ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H|ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H	p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	20	2121	+			598			Cys-rich.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1793G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373467	0.82573	2.27E-4	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.22134	1.97;1.97;1.97	5.73	5.73	0.89815	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000009	T	0.34745	0.0908	L	0.39514	1.22	0.80722	D	1	D	0.62365	0.991	P	0.55871	0.786	T	0.01212	-1.1417	10	0.52906	T	0.07	.	19.8948	0.96954	0.0:0.0:1.0:0.0	.	598	O75077	ADA23_HUMAN	H	598;598;492;598	ENSP00000264377:R598H;ENSP00000363537:R598H;ENSP00000363536:R598H	ENSP00000264377:R598H	R	+	2	0	ADAM23	207161064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.837000	0.99465	2.699000	0.92147	0.655000	0.94253	CGC		0.498	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		40	321	0	0	0	0.139131	0	40	321					A	207452819	G	A	207452819	3	1	61	1	0	0	0	0	1	0	0	0	245	1087	38	1	1871	1	ADAM23	2	207452819	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	14751550	207452819	35746554	19	7353											
ATG16L1	55054	broad.mit.edu	37	chr2	234182379	234182379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttagtaagcgactctcGcagcctgctggaggccttct	10	13	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:234182379G>A	ENST00000392017.4	+	8	1064	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000373525.5_Silent_p.S125S|SCARNA5_ENST00000516201.1_RNA	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	269					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCGACTCTCGCAGCCTGCTG	0.383																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(805-807)tcG>tcA		autophagy related 16-like 1 (S. cerevisiae)							132	138	136					2																	234182379		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234182379G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.807G>A	2.37:g.234182379G>A						ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000373525.5_Silent_p.S125S|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000347464.5_Intron	p.S269S	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	8	1064	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	269					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.807G>A	CCDS2503.2																																																																																				0.383	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		10	415	0	0	0	0.080935	0	10	415					A	234182379	G	A	234182379	2	1	61	1	0	0	0	0	0	0	0	1	1092	1074	38	1		1	ATG16L1	2	234182379	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	26729560	234182379	9016994	20	7354											
OSBPL10	114884	broad.mit.edu	37	chr3	31725318	31725318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcggccattgggtgttcgtGacagctggcaggagagcggg	18	8	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:31725318G>A	ENST00000396556.2	-	8	1656	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	512					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			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)		GGGTGTTCGTGACAGCTGGCA	0.537																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1534-1536)Cac>Tac		oxysterol binding protein-like 10							142	126	131					3																	31725318		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31725318G>A	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.1534C>T	3.37:g.31725318G>A	ENSP00000379804:p.His512Tyr					OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	p.H512Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	8	1656	-			512					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1534C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	5.951	0.359514	0.11239	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.22336	1.96;2.28	5.68	3.72	0.42706	.	1.818630	0.01854	N	0.036130	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P;B;B	0.43857	0.819;0.165;0.04	B;B;B	0.41510	0.359;0.075;0.233	T	0.42032	-0.9475	10	0.49607	T	0.09	-2.2597	12.1469	0.54028	0.0:0.4069:0.5931:0.0	.	448;512;280	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	Y	512;448	ENSP00000379804:H512Y;ENSP00000406124:H448Y	ENSP00000379804:H512Y	H	-	1	0	OSBPL10	31700322	0.015000	0.18098	0.005000	0.12908	0.002000	0.02628	1.856000	0.39389	1.514000	0.48869	0.591000	0.81541	CAC		0.537	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			45	539	0	0	0	0.139131	0	45	539					A	31725318	G	A	31725318	3	1	61	1	0	0	0	0	1	0	0	0	11317	1290	45	2	780	2	OSBPL10	3	31725318	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31725318	166297112	21	7355											
SETD2	29072	broad.mit.edu	37	chr3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttataattttcagtctgCgaaacattagtttcttggga	7	7	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCAGTCTGCGAAACATTAG	0.443			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5635-5637)cGc>cAc		SET domain containing 2							183	177	179					3																	47125634		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125634C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5636G>A	3.37:g.47125634C>T	ENSP00000386759:p.Arg1879His						p.R1879H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5678	-		Acute lymphoblastic leukemia(5;0.0169)	1879					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5636G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199606	0.79015	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.29	4.41	0.53225	.	0.000000	0.56097	D	0.000026	T	0.46034	0.1372	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.47995	-0.9073	10	0.72032	D	0.01	.	16.2841	0.82710	0.0:0.8673:0.1327:0.0	.	1879;1879	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1879	ENSP00000386759:R1879H	ENSP00000386759:R1879H	R	-	2	0	SETD2	47100638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.523000	0.60545	1.339000	0.45563	0.650000	0.86243	CGC		0.443	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		35	895	0	0	0	0.173368	0	35	895					T	47125634	C	T	47125634	3	4	61	1	0	0	0	0	1	0	0	0	14181	768	27	1	2098	1	SETD2	3	47125634	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	15400316	47125634	150896796	22	7356											
DHX30	22907	broad.mit.edu	37	chr3	47888007	47888007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaccgagggccgaggtgCccgctgcaatgttatcatca	13	11	2	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47888007C>T	ENST00000445061.1	+	11	1852	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	DHX30_ENST00000457607.1_Missense_Mutation_p.A510V|DHX30_ENST00000348968.4_Missense_Mutation_p.A454V|DHX30_ENST00000446256.2_Missense_Mutation_p.A443V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	482	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCGAGGTGCCCGCTGCAAT	0.652																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1327-1329)gCc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 30							81	84	83					3																	47888007		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888007C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1445C>T	3.37:g.47888007C>T	ENSP00000405620:p.Ala482Val					DHX30_ENST00000457607.1_Missense_Mutation_p.A510V|DHX30_ENST00000445061.1_Missense_Mutation_p.A482V|DHX30_ENST00000348968.4_Missense_Mutation_p.A454V	p.A443V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1900	+			482					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1328C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674700	0.88445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.08	4.2	0.49525	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	L	0.33710	1.025	0.58432	D	0.999999	D;D	0.71674	0.998;0.984	D;P	0.66602	0.945;0.863	T	0.00901	-1.1521	10	0.87932	D	0	.	12.5915	0.56445	0.0:0.9198:0.0:0.0802	.	482;443	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	443;482;454;510	ENSP00000392601:A443V;ENSP00000405620:A482V;ENSP00000343442:A454V;ENSP00000394682:A510V	ENSP00000343442:A454V	A	+	2	0	DHX30	47863011	1.000000	0.71417	0.561000	0.28357	0.995000	0.86356	6.007000	0.70731	1.135000	0.42183	0.655000	0.94253	GCC		0.652	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		8	755	0	0	0	0.047766	0	8	755					T	47888007	C	T	47888007	3	4	61	1	0	0	0	0	1	0	0	0	4520	739	26	2	1490	2	DHX30	3	47888007	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	762373	47888007	150134423	23	7357											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085557	64085557	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcaggcatggaaaatcGggataggtgctcctggcgct	16	8	1	0	rs557364621		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:64085557G>A	ENST00000295902.6	-	8	2290	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	569					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATGGAAAATCGGGATAGGTGC	0.537																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1705-1707)Cga>Tga		prickle homolog 2 (Drosophila)							129	133	132					3																	64085557		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085557G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1705C>T	3.37:g.64085557G>A	ENSP00000295902:p.Arg569*					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*|PRICKLE2-AS1_ENST00000460946.1_RNA	p.R569*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2290	-		Lung NSC(201;0.136)	569					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.1705C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	44	10.812074	0.99471	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8692	15.9644	0.79956	0.0:0.0:0.8647:0.1353	.	.	.	.	X	569	.	ENSP00000295902:R569X	R	-	1	2	PRICKLE2	64060597	1.000000	0.71417	0.792000	0.32020	0.980000	0.70556	2.489000	0.45285	2.655000	0.90218	0.591000	0.81541	CGA		0.537	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		68	718	0	0	0	0.139131	0	68	718					A	64085557	G	A	64085557	4	1	61	1	0	0	0	0	0	1	0	0	12534	1124	39	1	833	1	PRICKLE2	3	64085557	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	16197550	64085557	133936873	24	7358											
SENP7	57337	broad.mit.edu	37	chr3	101177867	101177867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatttttatggtctagagaGatgactttattccttaggct	8	5	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:101177867G>A	ENST00000394095.2	-	4	269	c.216C>T	c.(214-216)atC>atT	p.I72I	SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000394094.2_Silent_p.I72I|Y_RNA_ENST00000364684.1_RNA|SENP7_ENST00000314261.7_Silent_p.I72I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000394091.1_Silent_p.I39I	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	72						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTAGAGAGATGACTTTAT	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(214-216)atC>atT		SUMO1/sentrin specific peptidase 7							209	200	203					3																	101177867		2203	4300	6503	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101177867G>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.216C>T	3.37:g.101177867G>A						SENP7_ENST00000394091.1_Silent_p.I39I|SENP7_ENST00000394094.2_Silent_p.I72I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000314261.7_Silent_p.I72I	p.I72I	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			4	269	-			72					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.216C>T	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		26	791	0	0	0	0.099896	0	26	791					A	101177867	G	A	101177867	2	1	61	1	0	0	0	0	0	0	0	1	14101	932	33	2		2	SENP7	3	101177867	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	37092310	101177867	96844563	25	7359											
PEX5L	51555	broad.mit.edu	37	chr3	179519804	179519804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgagggcagtgagaaAattgctgaccgcttctctaa	10	9	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:179519804A>C	ENST00000467460.1	-	15	2023	c.1693T>G	c.(1693-1695)Ttt>Gtt	p.F565V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|RP11-494H4.3_ENST00000602704.1_lincRNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	565					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCAGTGAGAAAATTGCTGACC	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1693-1695)Ttt>Gtt		peroxisomal biogenesis factor 5-like							112	119	117					3																	179519804		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179519804A>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1693T>G	3.37:g.179519804A>C	ENSP00000419975:p.Phe565Val					PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V	p.F565V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		15	2023	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		565					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1693T>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998351	0.74818	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.995;0.994;0.998;0.998;0.999	D	0.83429	0.0037	10	0.87932	D	0	-16.2057	15.5389	0.76024	1.0:0.0:0.0:0.0	.	506;541;457;563;530;565	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	565;563;530;563;457;373;522;453;506;457;541	ENSP00000419975:F565V;ENSP00000263962:F563V;ENSP00000418440:F530V;ENSP00000376420:F457V;ENSP00000418665:F373V;ENSP00000420555:F522V;ENSP00000418054:F506V;ENSP00000417270:F457V;ENSP00000419348:F541V	ENSP00000263962:F563V	F	-	1	0	PEX5L	181002498	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.962000	0.93254	2.067000	0.61834	0.482000	0.46254	TTT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		92	542	0	0	0	0.139131	0	92	542					C	179519804	A	C	179519804	3	2	61	1	0	0	0	0	1	0	0	0	11791	14	1	4	191	4	PEX5L	3	179519804	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	78341937	179519804	18502626	26	7360											
ABCC5	10057	broad.mit.edu	37	chr3	183655752	183655752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttgcttcggaggtcgGcaaggccaatatcactgatt	12	8	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:183655752G>A	ENST00000334444.6	-	26	4031	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A1221V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1264	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCGGAGGTCGGCAAGGCCAAT	0.547																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3790-3792)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							88	89	88					3																	183655752		2067	4206	6273	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655752G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3791C>T	3.37:g.183655752G>A	ENSP00000333926:p.Ala1264Val					ABCC5_ENST00000265586.6_Missense_Mutation_p.A1221V	p.A1264V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	4031	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1264			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3791C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.681123	0.68042	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.93906	-3.31;-3.31	5.73	4.85	0.62838	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.107611	0.64402	N	0.000008	D	0.93933	0.8058	L	0.42581	1.335	0.54753	D	0.999985	P;B	0.34837	0.472;0.192	P;B	0.50270	0.636;0.19	D	0.93819	0.7117	10	0.62326	D	0.03	-17.6057	14.4739	0.67535	0.0702:0.0:0.9298:0.0	.	1221;1264	Q86UX3;O15440	.;MRP5_HUMAN	V	1264;1221	ENSP00000333926:A1264V;ENSP00000265586:A1221V	ENSP00000265586:A1221V	A	-	2	0	ABCC5	185138446	1.000000	0.71417	0.417000	0.26559	0.662000	0.39071	3.481000	0.53179	1.423000	0.47198	0.655000	0.94253	GCC		0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	348	0	0	0	0.014758	0	5	348					A	183655752	G	A	183655752	3	1	61	1	0	0	0	0	1	0	0	0	56	1203	42	2	542	2	ABCC5	3	183655752	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	4135948	183655752	14366678	27	7361											
C3orf21	152002	broad.mit.edu	37	chr3	194790812	194790812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccgggtctgggggtTctcatggcggaactgccaga	14	13	2	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:194790812T>C	ENST00000310380.6	-	4	922	c.814A>G	c.(814-816)Aac>Gac	p.N272D	XXYLT1_ENST00000429994.1_Missense_Mutation_p.N126D|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.N69D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.N69D|XXYLT1_ENST00000356740.5_Missense_Mutation_p.N66D	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	272						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GTCTGGGGGTTCTCATGGCGG	0.672																																						ENST00000310380.6																			0											c.(814-816)Aac>Gac		xyloside xylosyltransferase 1							20	25	23					3																	194790812		1830	3951	5781	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790812T>C	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.814A>G	3.37:g.194790812T>C	ENSP00000309640:p.Asn272Asp					XXYLT1_ENST00000356740.5_Missense_Mutation_p.N66D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.N126D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.N69D|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.N69D	p.N272D	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	922	-			272					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.814A>G	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686374	0.88639	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.72479	2.2	0.58432	D	0.999997	D;P;D	0.76494	0.969;0.921;0.999	P;P;P	0.60789	0.795;0.545;0.879	T	0.63699	-0.6578	10	0.56958	D	0.05	-13.015	15.3136	0.74056	0.0:0.0:0.0:1.0	.	272;69;66	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	D	272;69;69;126;66	ENSP00000309640:N272D;ENSP00000409865:N69D;ENSP00000347967:N69D;ENSP00000399422:N126D;ENSP00000349179:N66D	ENSP00000309640:N272D	N	-	1	0	C3orf21	196272101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.927000	0.63440	2.219000	0.72066	0.460000	0.39030	AAC		0.672	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		18	302	0	0	0	0.043863	0	18	302					C	194790812	T	C	194790812	3	2	61	1	0	0	0	0	1	0	0	0	2221	1783	62	4	371	4	C3orf21	3	194790812	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	11135060	194790812	3231618	28	7362											
LRCH3	84859	broad.mit.edu	37	chr3	197562601	197562601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgcaccgcagaggaagagGaggccgaggtgagacagccc	17	11	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:197562601G>T	ENST00000425562.2	+	9	1159	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	LRCH3_ENST00000438796.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	387	Poly-Glu.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		AGAGGAAGAGGAGGCCGAGGT	0.507																																						ENST00000438796.2																			0				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						c.(1159-1161)Gag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 3							146	127	133					3																	197562601		2203	4300	6503	SO:0001587	stop_gained	84859					extracellular region		g.chr3:197562601G>T	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.1159G>T	3.37:g.197562601G>T	ENSP00000393579:p.Glu387*					LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*	p.E387*			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)	9	1203	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		387			Poly-Glu.		B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37	c.1159G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.754857	0.98471	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.2774	19.6242	0.95671	0.0:0.0:1.0:0.0	.	.	.	.	X	387;261;387;387;387	.	ENSP00000334375:E387X	E	+	1	0	LRCH3	199046998	1.000000	0.71417	0.766000	0.31476	0.854000	0.48673	8.533000	0.90617	2.711000	0.92665	0.644000	0.83932	GAG		0.507	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		37	296	1	0	9.80977e-26	0.069456	1.07842e-25	37	296					T	197562601	G	T	197562601	4	4	61	1	0	0	0	0	0	1	0	0	8972	1175	41	3	1193	3	LRCH3	3	197562601	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	2771789	197562601	459829	29	7363											
ABLIM2	84448	broad.mit.edu	37	chr4	8021973	8021973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggtaggtggaggggGgcggcttgctgtcagagagc	20	8	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:8021973G>A	ENST00000341937.5	-	12	1290	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000296372.8_Missense_Mutation_p.P409L|ABLIM2_ENST00000546334.1_Intron|RP11-338K13.1_ENST00000608962.1_RNA|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	409					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGTGGAGGGGGGCGGCTTGCT	0.632																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(1225-1227)cCc>cTc		actin binding LIM protein family, member 2							33	38	37					4																	8021973		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021973G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1226C>T	4.37:g.8021973G>A	ENSP00000342813:p.Pro409Leu					ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Intron	p.P409L			Q6H8Q1	ABLM2_HUMAN			12	1368	-			409					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1226C>T	CCDS47013.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.79|14.79|14.79	2.639549|2.639549|2.639549	0.47153|0.47153|0.47153	.|.|.	.|.|.	ENSG00000163995|ENSG00000163995|ENSG00000163995	ENST00000400045|ENST00000296372;ENST00000545242;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277|ENST00000400045	.|T;T;T;T;T;T|.	.|0.41400|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	4.88|4.88|4.88	4.88|4.88|4.88	0.63580|0.63580|0.63580	.|.|.	.|0.760924|0.760924	.|0.12252|0.12252	.|N|N	.|0.485554|0.485554	.|T|T	.|0.66218|0.66218	.|0.2767|0.2767	L|L|L	0.53561|0.53561|0.53561	1.675|1.675|1.675	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;B;D;D|.	.|0.63046|.	.|0.958;0.0;0.992;0.971|.	.|D;B;P;P|.	.|0.66847|.	.|0.947;0.003;0.813;0.887|.	.|T|T	.|0.57400|0.57400	.|-0.7818|-0.7818	.|10|7	.|0.17369|0.11182	.|T|T	.|0.5|0.66	.|.|.	16.2207|16.2207|16.2207	0.82257|0.82257|0.82257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|409;409;409;442|.	.|Q6H8Q1-2;Q6H8Q1;Q6H8Q1-5;E9PF39|.	.|.;ABLM2_HUMAN;.;.|.	.|L|S	-1|409;409;442;409;409;210|442	.|ENSP00000296372:P409L;ENSP00000441255:P409L;ENSP00000393511:P442L;ENSP00000342813:P409L;ENSP00000355003:P409L;ENSP00000421718:P210L|.	.|ENSP00000296372:P409L|ENSP00000382920:P442S	.|P|P	-|-|-	.|2|1	.|0|0	ABLIM2|ABLIM2|ABLIM2	8072873|8072873|8072873	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.546000|0.546000|0.546000	0.28166|0.28166|0.28166	0.841000|0.841000|0.841000	0.47740|0.47740|0.47740	8.570000|8.570000|8.570000	0.90748|0.90748|0.90748	2.247000|2.247000|2.247000	0.74100|0.74100|0.74100	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	.|CCC|CCC		0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		6	207	0	0	0	0.038147	0	6	207					A	8021973	G	A	8021973	3	1	61	1	0	0	0	0	1	0	0	0	95	1232	43	2	665	2	ABLIM2	4	8021973	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		8021973	183132303	30	7364											
CCKAR	886	broad.mit.edu	37	chr4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-													tactccggatgcggttggccCtgctgctgctgccggtggac							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			9	737						9	737	---	---	---	---	-	26483674	CTG	-	26483672	7	5	61	1	0	1	0	1	0	0	0	0	2887	681	24	0	415	0	CCKAR	4	26483672	In_Frame_Del	DEL	CTG	TCGA-FZ-5923-01A-12D-1609-08	18461699	26483672	164670604	31	7365											
SRP72	6731	broad.mit.edu	37	chr4	57333839	57333839	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggggggtgtcagtacctgCgctgtggagtgaagtgaacc	18	8	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:57333839C>G	ENST00000342756.5	+	1	759	c.38C>G	c.(37-39)gCg>gGg	p.A13G	SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCAGTACCTGCGCTGTGGAGT	0.667																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(37-39)gCg>gGg		signal recognition particle 72kDa							21	22	21					4																	57333839		2203	4299	6502	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57333839C>G	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.38C>G	4.37:g.57333839C>G	ENSP00000342181:p.Ala13Gly					SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			1	759	+	Glioma(25;0.08)|all_neural(26;0.101)		13					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.38C>G	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188841	0.78789	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.41065	1.01;1.01	5.55	5.55	0.83447	Tetratricopeptide repeat-containing (1);	0.064408	0.64402	D	0.000005	T	0.38558	0.1045	L	0.58669	1.825	0.54753	D	0.999989	B;P	0.35944	0.063;0.529	B;B	0.31869	0.075;0.137	T	0.17653	-1.0362	10	0.25751	T	0.34	.	15.0181	0.71605	0.0:1.0:0.0:0.0	.	13;13	G5E9Z8;O76094	.;SRP72_HUMAN	G	13;19;13	ENSP00000342181:A13G;ENSP00000424576:A13G	ENSP00000342181:A13G	A	+	2	0	SRP72	57028596	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.905000	0.48727	2.590000	0.87494	0.655000	0.94253	GCG		0.667	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			16	122	0	0	0	0.146539	0	16	122					G	57333839	C	G	57333839	3	3	61	1	0	0	0	0	1	0	0	0	15209	768	27	5	40	5	SRP72	4	57333839	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	30850167	57333839	133820437	32	7366											
NUP54	53371	broad.mit.edu	37	chr4	77065403	77065403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgttgtgccaaaaccaGtaccaaatccaaaacctttg	6	12	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:77065403G>C	ENST00000264883.3	-	3	334	c.194C>G	c.(193-195)aCt>aGt	p.T65S	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	65	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GCCAAAACCAGTACCAAATCC	0.393																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(193-195)aCt>aGt		nucleoporin 54kDa							259	265	263					4																	77065403		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77065403G>C	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.194C>G	4.37:g.77065403G>C	ENSP00000264883:p.Thr65Ser					NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	p.T65S	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			3	334	-			65			9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.194C>G	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887677	0.33348	.	.	ENSG00000138750	ENST00000264883;ENST00000514901	.	.	.	6.06	6.06	0.98353	.	0.199124	0.53938	D	0.000051	T	0.41050	0.1142	N	0.12920	0.275	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.41251	-0.9519	9	0.02654	T	1	-20.5498	20.6282	0.99521	0.0:0.0:1.0:0.0	.	65	Q7Z3B4	NUP54_HUMAN	S	65;119	.	ENSP00000264883:T65S	T	-	2	0	NUP54	77284427	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.152000	0.94680	2.871000	0.98454	0.655000	0.94253	ACT		0.393	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			202	1444	0	0	0	0.139131	0	202	1444					C	77065403	G	C	77065403	3	2	61	1	0	0	0	0	1	0	0	0	10809	1029	36	5	1369	5	NUP54	4	77065403	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19731564	77065403	114088873	33	7367											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99325653	99325653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagaacagtttgccagTacaaacattgctgaagagct	9	7	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:99325653T>C	ENST00000408927.3	+	7	776	c.663T>C	c.(661-663)agT>agC	p.S221S	RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000408900.3_Silent_p.S172S|RAP1GDS1_ENST00000264572.7_Silent_p.S130S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	221					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGTTTGCCAGTACAAACATTG	0.299			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(661-663)agT>agC		RAP1, GTP-GDP dissociation stimulator 1							70	68	69					4																	99325653		1803	4070	5873	SO:0001819	synonymous_variant	5910						binding|GTPase activator activity	g.chr4:99325653T>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.663T>C	4.37:g.99325653T>C						RAP1GDS1_ENST00000264572.7_Silent_p.S130S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S|RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000408900.3_Silent_p.S172S	p.S221S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	7	776	+			221					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	c.663T>C	CCDS43253.1																																																																																				0.299	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		30	263	0	0	0	0.134883	0	30	263					C	99325653	T	C	99325653	2	2	61	1	0	0	0	0	0	0	0	1	13089	1635	57	4		4	RAP1GDS1	4	99325653	Silent	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	22260250	99325653	91828623	34	7368											
AGXT2L1	64850	broad.mit.edu	37	chr4	109670416	109670416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattaaaatattccatcccaGagctgctgaaggcttctgca	7	10	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:109670416G>A	ENST00000296486.3	-	8	1059	c.905C>T	c.(904-906)tCt>tTt	p.S302F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.S244F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S262F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S296F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	302						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TTCCATCCCAGAGCTGCTGAA	0.408																																						ENST00000296486.3																			0											c.(904-906)tCt>tTt		ethanolamine-phosphate phospho-lyase							68	67	68					4																	109670416		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109670416G>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.905C>T	4.37:g.109670416G>A	ENSP00000296486:p.Ser302Phe					ETNPPL_ENST00000510706.1_Missense_Mutation_p.S262F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S296F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S244F	p.S302F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					8	1059	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.905C>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696920	0.68386	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.32	4.47	0.54385	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101250	0.64402	D	0.000001	T	0.61362	0.2341	M	0.72118	2.19	0.48395	D	0.999649	P;P;D	0.57257	0.851;0.82;0.979	P;P;P	0.62649	0.738;0.693;0.905	T	0.63825	-0.6549	9	.	.	.	-15.1477	16.2621	0.82552	0.0:0.133:0.867:0.0	.	244;296;302	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	302;296;244;262	ENSP00000296486:S302F;ENSP00000392269:S296F;ENSP00000427065:S244F;ENSP00000423240:S262F	.	S	-	2	0	AGXT2L1	109889865	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.551000	0.67274	1.348000	0.45733	-0.181000	0.13052	TCT		0.408	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		20	301	0	0	0	0.069288	0	20	301					A	109670416	G	A	109670416	3	1	61	1	0	0	0	0	1	0	0	0	406	942	33	2	618	2	AGXT2L1	4	109670416	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	10344763	109670416	81483860	35	7369											
PCDH18	54510	broad.mit.edu	37	chr4	138442421	138442421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaatgcgtactggctGcccatgccgctaccccctgt	9	14	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:138442421G>T	ENST00000344876.4	-	4	3556	c.3170C>A	c.(3169-3171)gCa>gAa	p.A1057E	PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E|PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1057	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTACTGGCTGCCCATGCCGC	0.577																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3169-3171)gCa>gAa		protocadherin 18							42	41	42					4																	138442421		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442421G>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3170C>A	4.37:g.138442421G>T	ENSP00000355082:p.Ala1057Glu					PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E|PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E	p.A1057E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3556	-	all_hematologic(180;0.24)		1057			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3170C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822444	0.71028	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.57107	0.53;0.53;0.42;1.08;1.05	4.94	4.09	0.47781	.	0.000000	0.42964	D	0.000624	T	0.69269	0.3092	M	0.67953	2.075	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.72312	-0.4331	10	0.72032	D	0.01	.	13.204	0.59785	0.0774:0.0:0.9226:0.0	.	237;836;1056;1057	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	1057;1056;836;268;237	ENSP00000355082:A1057E;ENSP00000390688:A1056E;ENSP00000425903:A836E;ENSP00000424269:A268E;ENSP00000425647:A237E	ENSP00000355082:A1057E	A	-	2	0	PCDH18	138661871	1.000000	0.71417	0.945000	0.38365	0.954000	0.61252	9.176000	0.94839	1.088000	0.41272	0.586000	0.80456	GCA		0.577	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		6	299	1	0	0.0215528	0.021553	0.0218156	6	299					T	138442421	G	T	138442421	3	4	61	1	0	0	0	0	1	0	0	0	11555	1319	46	3	241	3	PCDH18	4	138442421	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	28772005	138442421	52711855	36	7370											
WDR17	116966	broad.mit.edu	37	chr4	177100634	177100634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtttttccttgaagaCgggaaatctgctatctcctt	8	10	2	2	rs142280699	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:177100634C>T	ENST00000280190.4	+	31	4029	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	WDR17_ENST00000507824.2_Silent_p.D1266D|WDR17_ENST00000508596.1_Silent_p.D1252D|WDR17_ENST00000393643.2_Silent_p.D1267D			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1291										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCTTGAAGACGGGAAATCTG	0.393													C|||	5	0.000998403	0.003	0.0014	5008	,	,		12223	0.0		0.0	False		,,,				2504	0.0					ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3799-3801)gaC>gaT		WD repeat domain 17		C	,	26,4380	32.6+/-62.9	0,26,2177	141	128	132		3873,3756	-1	1	4	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WDR17	NM_170710.4,NM_181265.3	,	0,26,6477	TT,TC,CC		0.0,0.5901,0.1999	,	1291/1323,1252/1284	177100634	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177100634C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3873C>T	4.37:g.177100634C>T						WDR17_ENST00000507824.2_Silent_p.D1266D|WDR17_ENST00000280190.4_Silent_p.D1291D|WDR17_ENST00000508596.1_Silent_p.D1252D	p.D1267D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	4053	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1291					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3801C>T	CCDS3825.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.732	0.699432	0.15106	0.005901	0.0	ENSG00000150627	ENST00000443118	.	.	.	5.51	-0.995	0.10222	.	.	.	.	.	T	0.49355	0.1552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51601	-0.8685	4	.	.	.	-22.5728	10.9129	0.47118	0.0:0.2665:0.0:0.7335	.	.	.	.	W	526	.	.	R	+	1	2	WDR17	177337628	0.960000	0.32886	0.997000	0.53966	0.928000	0.56348	0.052000	0.14163	-0.080000	0.12685	-1.099000	0.02127	CGG		0.393	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			16	506	0	0	0	0.132662	0	16	506					T	177100634	C	T	177100634	2	4	61	1	0	0	0	0	0	0	0	1	17331	535	19	1		1	WDR17	4	177100634	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	38658213	177100634	14053642	37	7371											
C5orf49	134121	broad.mit.edu	37	chr5	7835544	7835544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcatgttctctgtcatctCggtgcaacttctgatcataa	7	10	5	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:7835544C>T	ENST00000399810.2	-	2	683	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	72										large_intestine(3)|lung(5)|skin(1)	9						TCTGTCATCTCGGTGCAACTT	0.353																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(214-216)cGa>cAa		chromosome 5 open reading frame 49							138	132	134					5																	7835544		1824	4087	5911	SO:0001583	missense	134121							g.chr5:7835544C>T		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.215G>A	5.37:g.7835544C>T	ENSP00000382708:p.Arg72Gln					C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			2	683	-			72						Missense_Mutation	SNP	ENST00000399810.2	37	c.215G>A	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897071	0.91962	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.52754	0.65;0.65	4.95	4.95	0.65309	.	.	.	.	.	T	0.67534	0.2903	M	0.69823	2.125	0.44880	D	0.997896	D	0.89917	1.0	D	0.81914	0.995	T	0.71371	-0.4613	9	0.87932	D	0	-14.3012	15.5014	0.75700	0.0:1.0:0.0:0.0	.	72	A4QMS7	CE049_HUMAN	Q	72	ENSP00000382708:R72Q;ENSP00000426019:R72Q	ENSP00000382708:R72Q	R	-	2	0	C5orf49	7888544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.054000	0.64275	2.467000	0.83353	0.561000	0.74099	CGA		0.353	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		89	604	0	0	0	0.139131	0	89	604					T	7835544	C	T	7835544	3	4	61	1	0	0	0	0	1	0	0	0	2314	884	31	1	236	1	C5orf49	5	7835544	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		7835544	173079716	38	7372											
HCN1	348980	broad.mit.edu	37	chr5	45267329	45267329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcgaacactggcagtacGacgtcctttggtcagcaggc	12	12	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:45267329G>A	ENST00000303230.4	-	7	1702	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1645-1647)Cgt>Tgt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							120	110	114					5																	45267329		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267329G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1645C>T	5.37:g.45267329G>A	ENSP00000307342:p.Arg549Cys						p.R549C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1702	-			549						Missense_Mutation	SNP	ENST00000303230.4	37	c.1645C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564739	0.86439	.	.	ENSG00000164588	ENST00000303230	D	0.98028	-4.67	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000004	D	0.99248	0.9738	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98824	1.0748	10	0.87932	D	0	.	15.061	0.71955	0.0:0.0:0.8581:0.1419	.	549	O60741	HCN1_HUMAN	C	549	ENSP00000307342:R549C	ENSP00000307342:R549C	R	-	1	0	HCN1	45303086	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	4.327000	0.59247	2.813000	0.96785	0.655000	0.94253	CGT		0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		10	376	0	0	0	0.069234	0	10	376					A	45267329	G	A	45267329	3	1	61	1	0	0	0	0	1	0	0	0	7026	1058	37	1	1035	1	HCN1	5	45267329	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	37431785	45267329	135647931	39	7373											
SPZ1	84654	broad.mit.edu	37	chr5	79617205	79617205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggtacattttggaaaaaaGacagatcctgtagaagcctg	11	6	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:79617205G>T	ENST00000296739.4	+	1	1416	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	391					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTGGAAAAAAGACAGATCCTG	0.363																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(1171-1173)Gac>Tac		spermatogenic leucine zipper 1							79	78	78					5																	79617205		1846	4092	5938	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617205G>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1171G>T	5.37:g.79617205G>T	ENSP00000369611:p.Asp391Tyr						p.D391Y	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1416	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	391					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.1171G>T	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916976	0.33815	.	.	ENSG00000164299	ENST00000296739	T	0.34275	1.37	4.07	-0.985	0.10256	.	1.693690	0.03356	N	0.196825	T	0.30947	0.0781	N	0.24115	0.695	0.09310	N	1	P	0.47677	0.899	P	0.48141	0.568	T	0.18650	-1.0330	10	0.56958	D	0.05	-9.6529	4.5345	0.12022	0.3753:0.3186:0.306:0.0	.	391	Q9BXG8	SPZ1_HUMAN	Y	391	ENSP00000369611:D391Y	ENSP00000369611:D391Y	D	+	1	0	SPZ1	79652961	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.076000	0.11412	-0.210000	0.10140	0.557000	0.71058	GAC		0.363	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		30	333	1	0	4.74835e-14	0.153744	5.15181e-14	30	333					T	79617205	G	T	79617205	3	4	61	1	0	0	0	0	1	0	0	0	15179	942	33	3	1173	3	SPZ1	5	79617205	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	34349876	79617205	101298055	40	7374											
FSTL4	23105	broad.mit.edu	37	chr5	132534846	132534846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacctgacacctcacaccGcagcgtgttttgtctcccat	6	15	2	1	rs150466282		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:132534846G>A	ENST00000265342.7	-	16	2719	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	824						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTCACACCGCAGCGTGTTT	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17191	0.0		0.0	False		,,,				2504	0.0					ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2470-2472)Cgg>Tgg		follistatin-like 4		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70	67	68		2470	3.4	0.2	5	dbSNP_134	68	7,8593	5.7+/-21.5	0,7,4293	yes	missense	FSTL4	NM_015082.1	101	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	824/843	132534846	8,12998	2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132534846G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2470C>T	5.37:g.132534846G>A	ENSP00000265342:p.Arg824Trp					CTB-49A3.2_ENST00000509051.1_RNA	p.R824W	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2719	-		all_cancers(142;0.244)	824					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2470C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873565	0.33069	2.27E-4	8.14E-4	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60171	0.21	5.24	3.38	0.38709	Immunoglobulin-like (1);	0.348042	0.31636	N	0.007301	T	0.68128	0.2967	M	0.64997	1.995	0.26112	N	0.980672	D;D	0.76494	0.993;0.999	B;P	0.59703	0.405;0.862	T	0.63453	-0.6634	10	0.87932	D	0	-8.5055	12.7775	0.57457	0.0:0.0:0.692:0.308	.	824;473	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	W	824;655	ENSP00000265342:R824W	ENSP00000265342:R824W	R	-	1	2	FSTL4	132562745	1.000000	0.71417	0.192000	0.23308	0.183000	0.23260	3.063000	0.49978	0.529000	0.28599	0.650000	0.86243	CGG		0.577	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	256	0	0	0	0.069234	0	10	256					A	132534846	G	A	132534846	3	1	61	1	0	0	0	0	1	0	0	0	6106	1086	38	1	62	1	FSTL4	5	132534846	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	52917641	132534846	48380414	41	7375											
CD14	929	broad.mit.edu	37	chr5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-													cgcagagacgtgcaccagcgGcagcagcagcagcaacaagc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ctgccg>ccg	p.L12del	CD14_ENST00000401743.2_In_Frame_Del_p.L12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635																																						ENST00000302014.6																			1	Substitution - Missense(1)	p.P13S(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(34-39)ccg>c		CD14 molecule																																				SO:0001651	inframe_deletion	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012532_140012534delGCA		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.35_37delTGC	5.37:g.140012541_140012543delGCA	ENSP00000304236:p.Leu12del					CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	664_666	-			12					Q53XT5|Q96FR6|Q96L99|Q9UNS3	In_Frame_Del	DEL	ENST00000302014.6	37	c.35_37delTGC	CCDS4232.1																																																																																				0.635	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	222						7	222	---	---	---	---	-	140012534	GCA	-	140012532	7	5	61	1	0	1	0	1	0	0	0	0	2973	1203	42	0	1094	0	CD14	5	140012532	In_Frame_Del	DEL	GCA	TCGA-FZ-5923-01A-12D-1609-08	7477686	140012532	40902728	42	7376											
PCDHB8	56128	broad.mit.edu	37	chr5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcacatcggcagcGtcagcgccacagacagagac	11	17	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	474	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.V474I(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662																																						ENST00000239444.2																			2	Substitution - Missense(2)	p.V474I(2)	endometrium(1)|kidney(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1420-1422)Gtc>Atc									80	122	108					5																	140559035		2203	4293	6496	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559035G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1420G>A	5.37:g.140559035G>A	ENSP00000239444:p.Val474Ile						p.V474I	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1665	+			474			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1420G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260842	0.23051	.	.	ENSG00000120322	ENST00000239444	T	0.02787	4.16	4.26	1.9	0.25705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.51853	1.615	0.09310	N	0.999999	B	0.21071	0.051	B	0.24006	0.05	T	0.43081	-0.9413	9	0.25106	T	0.35	.	7.5775	0.27944	0.4462:0.0:0.5538:0.0	.	474	Q9UN66	PCDB8_HUMAN	I	474	ENSP00000239444:V474I	ENSP00000239444:V474I	V	+	1	0	PCDHB8	140539219	0.020000	0.18652	0.998000	0.56505	0.970000	0.65996	0.204000	0.17335	0.466000	0.27193	0.305000	0.20034	GTC		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		30	2000	0	0	0	0.058154	0	30	2000					A	140559035	G	A	140559035	3	1	61	1	0	0	0	0	1	0	0	0	11590	1145	40	1	1422	1	PCDHB8	5	140559035	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	546503	140559035	40356225	43	7377											
SLIT3	6586	broad.mit.edu	37	chr5	168244314	168244314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcctcacctgggcacaCgtactccttcttctgcacat	6	16	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:168244314C>T	ENST00000519560.1	-	8	1203	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	262	LRRCT 1.				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)			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)			CCTGGGCACACGTACTCCTTC	0.572																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(784-786)Gtg>Atg		slit homolog 3 (Drosophila)							98	88	92					5																	168244314		2203	4300	6503	SO:0001583	missense	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.chr5:168244314C>T	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.784G>A	5.37:g.168244314C>T	ENSP00000430333:p.Val262Met					SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1203	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	262			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.784G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476454	0.63737	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76709	-1.04;-1.04;-1.03	5.25	3.48	0.39840	Cysteine-rich flanking region, C-terminal (2);	0.170945	0.50627	D	0.000106	D	0.82765	0.5108	L	0.48362	1.52	0.50813	D	0.999892	D;P;P	0.89917	1.0;0.884;0.615	D;B;B	0.83275	0.996;0.301;0.219	T	0.81324	-0.0984	10	0.49607	T	0.09	.	11.7081	0.51610	0.0:0.8561:0.0:0.1439	.	262;262;262	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	M	262	ENSP00000430333:V262M;ENSP00000332164:V262M;ENSP00000384890:V262M	ENSP00000332164:V262M	V	-	1	0	SLIT3	168176892	0.572000	0.26668	0.984000	0.44739	0.910000	0.53928	1.726000	0.38085	0.610000	0.30035	0.462000	0.41574	GTG		0.572	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		18	235	0	0	0	0.160694	0	18	235					T	168244314	C	T	168244314	3	4	61	1	0	0	0	0	1	0	0	0	14791	536	19	1	3903	1	SLIT3	5	168244314	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	27685279	168244314	12670946	44	7378											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213219	28213219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccgcctaaaggctttgCcacacatattgcactggtat	7	11	0	0	rs184936839	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:28213219C>T	ENST00000377294.2	-	5	1556	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	438					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAGGCTTTGCCACACATATT	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		20912	0.002		0.0	False		,,,				2504	0.0					ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1312-1314)gGc>gAc		zinc finger with KRAB and SCAN domains 4							94	94	94					6																	28213219		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213219C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1313G>A	6.37:g.28213219C>T	ENSP00000366509:p.Gly438Asp					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	p.G438D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1556	-			438					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1313G>A	CCDS4647.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.90	3.913083	0.72983	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.34472	1.36;1.36	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51075	0.1653	M	0.62088	1.915	0.37173	D	0.903136	D	0.67145	0.996	D	0.66716	0.946	T	0.53975	-0.8362	9	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	438	Q969J2	ZKSC4_HUMAN	D	438;283;144;314	ENSP00000366509:G438D;ENSP00000401978:G283D	ENSP00000349249:G314D	G	-	2	0	ZKSCAN4	28321198	0.021000	0.18746	1.000000	0.80357	0.696000	0.40369	1.901000	0.39838	2.740000	0.93945	0.655000	0.94253	GGC		0.483	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		7	606	0	0	0	0.02938	0	7	606					T	28213219	C	T	28213219	3	4	61	1	0	0	0	0	1	0	0	0	17742	739	26	2	328	2	ZKSCAN4	6	28213219	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		28213219	142901848	45	7379											
OR2J3	442186	broad.mit.edu	37	chr6	29080438	29080438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctctttttcattccGgccatgtgcatgtatctcca	6	12	4	0	rs556178725	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21499	0.0		0.0	False		,,,				2504	0.001					ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(769-771)ccG>ccA		olfactory receptor, family 2, subfamily J, member 3							112	112	112					6																	29080438		1246	2560	3806	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080438G>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.771G>A	6.37:g.29080438G>A							p.P257P	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	771	+			257					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.771G>A	CCDS43433.1																																																																																				0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			52	397	0	0	0	0.139131	0	52	397					A	29080438	G	A	29080438	2	1	61	1	0	0	0	0	0	0	0	1	11046	1103	39	1		1	OR2J3	6	29080438	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	867219	29080438	142034629	46	7380											
C6orf97	80129	broad.mit.edu	37	chr6	151936716	151936716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagaacatgaggctaagGagaataaagaaagggccaga	12	7	0	5			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:151936716G>A	ENST00000239374.7	+	10	1948	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	CCDC170_ENST00000367290.5_Missense_Mutation_p.E624K|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	617																	TGAGGCTAAGGAGAATAAAGA	0.403																																						ENST00000367290.5																			0											c.(1870-1872)Gag>Aag		coiled-coil domain containing 170							152	147	148					6																	151936716		1854	4098	5952	SO:0001583	missense	80129							g.chr6:151936716G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1849G>A	6.37:g.151936716G>A	ENSP00000239374:p.Glu617Lys					CCDC170_ENST00000239374.7_Missense_Mutation_p.E617K	p.E624K			Q8IYT3	CF097_HUMAN			10	1959	+			617					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1870G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060934	0.93846	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.81078	2.98;-1.45	6.16	6.16	0.99307	.	0.170822	0.50627	D	0.000106	D	0.83418	0.5250	M	0.74881	2.28	0.48901	D	0.999722	P	0.47762	0.9	P	0.50791	0.65	T	0.79895	-0.1610	10	0.31617	T	0.26	-5.2365	20.8598	0.99761	0.0:0.0:1.0:0.0	.	617	Q8IYT3	CF097_HUMAN	K	617;624	ENSP00000239374:E617K;ENSP00000356259:E624K	ENSP00000239374:E617K	E	+	1	0	C6orf97	151978409	1.000000	0.71417	0.060000	0.19600	0.952000	0.60782	7.854000	0.86942	2.937000	0.99478	0.650000	0.86243	GAG		0.403	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		34	473	0	0	0	0.173368	0	34	473					A	151936716	G	A	151936716	3	1	61	1	0	0	0	0	1	0	0	0	2381	1175	41	2	1887	2	C6orf97	6	151936716	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	122856278	151936716	19178351	47	7381											
PDE1C	5137	broad.mit.edu	37	chr7	31890287	31890287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaattgttggtggttccGgtatgctcgtagtcatggat	14	5	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:31890287G>A	ENST00000396191.1	-	8	1274	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000396184.3_Silent_p.T273T|PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396182.2_Silent_p.T273T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T273T(2)|p.T333T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGTGGTTCCGGTATGCTCGT	0.448																																						ENST00000396184.3																			3	Substitution - coding silent(3)	p.T273T(2)|p.T333T(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(817-819)acC>acT		phosphodiesterase 1C, calmodulin-dependent 70kDa							206	182	190					7																	31890287		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890287G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.819C>T	7.37:g.31890287G>A						PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396182.2_Silent_p.T273T	p.T273T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		9	1023	-			273			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.819C>T	CCDS55099.1																																																																																				0.448	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			58	519	0	0	0	0.139131	0	58	519					A	31890287	G	A	31890287	2	1	61	1	0	0	0	0	0	0	0	1	11677	1103	39	1		1	PDE1C	7	31890287	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31890287	127248376	48	7382											
RSBN1L	222194	broad.mit.edu	37	chr7	77379157	77379157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgaactctcccacctgtctCctatggagatggagaggttt	10	11	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:77379157C>T	ENST00000334955.8	+	3	1147	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	374						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTGTCTCCTATGGAGAT	0.453																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1120-1122)Cct>Tct		round spermatid basic protein 1-like							119	112	114					7																	77379157		1875	4110	5985	SO:0001583	missense	222194					nucleus		g.chr7:77379157C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1120C>T	7.37:g.77379157C>T	ENSP00000334040:p.Pro374Ser					RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	p.P374S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	1147	+			374					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.1120C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595110	0.66219	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.95	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.68317	2.08	0.51233	D	0.999919	P	0.51057	0.941	D	0.63703	0.917	T	0.73946	-0.3822	9	0.42905	T	0.14	-11.5637	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	374	Q6PCB5	RSBNL_HUMAN	S	374;104	.	ENSP00000334040:P374S	P	+	1	0	RSBN1L	77217093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.981000	0.56902	2.824000	0.97209	0.655000	0.94253	CCT		0.453	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		74	623	0	0	0	0.139131	0	74	623					T	77379157	C	T	77379157	3	4	61	1	0	0	0	0	1	0	0	0	13747	855	30	2	1130	2	RSBN1L	7	77379157	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	45488870	77379157	81759506	49	7383											
NPTX2	4885	broad.mit.edu	37	chr7	98254349	98254349	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgccttcaccatctgCctgtggctgcggtccagcgc	11	16	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:98254349C>A	ENST00000265634.3	+	3	924	c.759C>A	c.(757-759)tgC>tgA	p.C253*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	253	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGCCTGTGGCTGC	0.597																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(757-759)tgC>tgA		neuronal pentraxin II							169	135	146					7																	98254349		2203	4300	6503	SO:0001587	stop_gained	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254349C>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.759C>A	7.37:g.98254349C>A	ENSP00000265634:p.Cys253*						p.C253*	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	924	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		253			Pentaxin.		A4D267|Q86XV7|Q96G70	Nonsense_Mutation	SNP	ENST00000265634.3	37	c.759C>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716400	0.97784	.	.	ENSG00000106236	ENST00000265634	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2072	14.0476	0.64714	0.0:0.9254:0.0:0.0746	.	.	.	.	X	253	.	ENSP00000265634:C253X	C	+	3	2	NPTX2	98092285	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.923000	0.63412	2.667000	0.90743	0.561000	0.74099	TGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		32	955	1	0	1.99505e-19	0.163468	2.17881e-19	32	955					A	98254349	C	A	98254349	4	1	61	1	0	0	0	0	0	1	0	0	10645	747	26	3	769	3	NPTX2	7	98254349	Nonsense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	20875192	98254349	60884314	50	7384											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914427	147914427	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggctacgatataactttCaggcaccagcaacaaatgcc	8	11	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:147914427C>T	ENST00000361727.3	+	19	3574	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					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)			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)			ATATAACTTTCAGGCACCAGC	0.493										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(3058-3060)Cag>Tag		contactin associated protein-like 2							118	119	118					7																	147914427		2203	4300	6503	SO:0001587	stop_gained	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.chr7:147914427C>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.3058C>T	7.37:g.147914427C>T	ENSP00000354778:p.Gln1020*	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	p.Q1020*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3574	+	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)	1020					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.3058C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.789081	0.98489	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	.	.	.	5.25	5.25	0.73442	.	0.244530	0.35772	N	0.003000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.4392	0.87561	0.0:1.0:0.0:0.0	.	.	.	.	X	1020;79	.	ENSP00000354778:Q1020X	Q	+	1	0	CNTNAP2	147545360	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.999000	0.49473	2.438000	0.82558	0.561000	0.74099	CAG		0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	606	0	0	0	0.11911	0	15	606					T	147914427	C	T	147914427	4	4	61	1	0	0	0	0	0	1	0	0	3656	827	29	2	3132	2	CNTNAP2	7	147914427	Nonsense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	49660078	147914427	11224236	51	7385											
FGF17	8822	broad.mit.edu	37	chr8	21900685	21900685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgattctctgctgtcAaactcaggtaggcgggcatt	12	10	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:21900685A>G	ENST00000359441.3	+	2	568	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	22					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTCTGCTGTCAAACTCAGGTA	0.622																																						ENST00000359441.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(64-66)cAa>cGa		fibroblast growth factor 17							82	74	76					8																	21900685		2203	4300	6503	SO:0001583	missense	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21900685A>G	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.65A>G	8.37:g.21900685A>G	ENSP00000352414:p.Gln22Arg					FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	2	568	+			22					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.65A>G	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675057	0.47781	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.76839	-1.05;-0.99	5.06	3.91	0.45181	.	0.152994	0.44285	D	0.000469	T	0.67951	0.2948	L	0.59436	1.845	0.24466	N	0.99442	B;B	0.16396	0.017;0.01	B;B	0.08055	0.003;0.001	T	0.51132	-0.8744	10	0.12103	T	0.63	-8.3178	7.58	0.27959	0.9017:0.0:0.0983:0.0	.	22;22	O60258-2;O60258	.;FGF17_HUMAN	R	22	ENSP00000431041:Q22R;ENSP00000352414:Q22R	ENSP00000352414:Q22R	Q	+	2	0	FGF17	21956631	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.635000	0.46537	0.892000	0.36259	0.459000	0.35465	CAA		0.622	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867		6	145	0	0	0	0.021553	0	6	145					G	21900685	A	G	21900685	3	3	61	1	0	0	0	0	1	0	0	0	5870	130	5	4	71	4	FGF17	8	21900685	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08		21900685	124463337	52	7386											
NEFL	4747	broad.mit.edu	37	chr8	24813396	24813396	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatcaagctgtcgatgcGcttctcgagctcggcgcgag	13	13	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:24813396G>A	ENST00000221169.5	-	0	1228				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGTCGATGCGCTTCTCGAGC	0.627																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							25	28	27					8																	24813396		1951	4132	6083			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813396G>A		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813396G>A										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1228	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.627	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		13	195	0	0	0	0.146539	0	13	195					A	24813396	G	A	24813396	1	1	61	0	1	0	0	0	0	0	0	0	10357	1087	38	1		1	NEFL	8	24813396	RNA	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	2912711	24813396	121550626	53	7387											
ADRA1A	148	broad.mit.edu	37	chr8	26627800	26627800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcttttacttctcacccGggctgtggtacaggaggatt	11	9	1	0	rs367786537		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:26627800G>A	ENST00000519229.1	-	2	1273	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0	Poly-Arg.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTTCTCACCCGGGCTGTGGTA	0.507																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1267-1269)Cgg>Tgg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	123	124	124		1267,1267,1267,1267	5.6	1	8		124	0,8600		0,0,4300	no	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	423/467,423/430,423/476,423/456	26627800	1,13005	2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627800G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1267C>T	8.37:g.26627800G>A	ENSP00000430793:p.Arg423Trp					ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron	p.R423W			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2290	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	423					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1267C>T		.	.	.	.	.	.	.	.	.	.	G	19.82	3.898005	0.72639	2.27E-4	0.0	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.63913	2.25;-0.01;-0.05;-0.07;0.01;0.01	5.63	5.63	0.86233	.	0.444361	0.20030	N	0.100736	T	0.72867	0.3514	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;P;P	0.62298	0.617;0.9;0.9;0.798	T	0.74583	-0.3617	10	0.87932	D	0	.	12.5529	0.56236	0.0:0.0:0.7251:0.2749	.	423;423;423;423	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	W	423	ENSP00000369960:R423W;ENSP00000369956:R423W;ENSP00000430793:R423W;ENSP00000346557:R423W;ENSP00000276393:R423W;ENSP00000369947:R423W	ENSP00000276393:R423W	R	-	1	2	ADRA1A	26683717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.013000	0.49582	2.651000	0.90000	0.655000	0.94253	CGG		0.507	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		42	626	0	0	0	0.09836	0	42	626					A	26627800	G	A	26627800	3	1	61	1	0	0	0	0	1	0	0	0	334	1115	39	1	428	1	ADRA1A	8	26627800	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1814404	26627800	119736222	54	7388											
WHSC1L1	54904	broad.mit.edu	37	chr8	38133932	38133932	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaacagtaatcttcatgcatCtgctttggttctgttttgat	7	7	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:38133932C>T	ENST00000317025.8	-	23	4471	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1318					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTCATGCATCTGCTTTGGTT	0.423			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3952-3954)caG>caA		Wolf-Hirschhorn syndrome candidate 1-like 1							243	226	232					8																	38133932		1981	4171	6152	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38133932C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3954G>A	8.37:g.38133932C>T						RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q	p.Q1318Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		23	4471	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1318					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.3954G>A	CCDS43729.1																																																																																				0.423	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		22	226	0	0	0	0.055883	0	22	226					T	38133932	C	T	38133932	2	4	61	1	0	0	0	0	0	0	0	1	17417	912	32	2		2	WHSC1L1	8	38133932	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	11506132	38133932	108230090	55	7389											
SLC45A4	57210	broad.mit.edu	37	chr8	142229763	142229763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttaccggcagagaaggcgTggatgttgagggccatgtcc	16	9	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:142229763T>C	ENST00000024061.3	-	3	750	c.443A>G	c.(442-444)cAc>cGc	p.H148R	SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R|SLC45A4_ENST00000519067.1_Missense_Mutation_p.H148R	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGAGAAGGCGTGGATGTTGAG	0.667																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(442-444)cAc>cGc		solute carrier family 45, member 4							78	51	60					8																	142229763		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229763T>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.443A>G	8.37:g.142229763T>C	ENSP00000024061:p.His148Arg					SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000024061.3_Missense_Mutation_p.H148R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R	p.H148R			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	746	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		199					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.443A>G	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601246	0.87055	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.80982	2.52	0.80722	D	1	D;D;B	0.89917	1.0;0.992;0.307	D;D;P	0.97110	1.0;0.971;0.698	D	0.95315	0.8415	10	0.37606	T	0.19	-50.8616	15.5816	0.76448	0.0:0.0:0.0:1.0	.	199;148;148	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	R	148;199;141;148;6	ENSP00000429059:H148R;ENSP00000428137:H199R;ENSP00000400799:H141R;ENSP00000024061:H148R;ENSP00000429033:H6R	ENSP00000024061:H148R	H	-	2	0	SLC45A4	142298945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.477000	0.81069	2.079000	0.62486	0.460000	0.39030	CAC		0.667	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		28	94	0	0	0	0.134883	0	28	94					C	142229763	T	C	142229763	3	2	61	1	0	0	0	0	1	0	0	0	14693	1696	59	4	1977	4	SLC45A4	8	142229763	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	104095831	142229763	4134259	56	7390											
LINGO2	158038	broad.mit.edu	37	chr9	27950456	27950456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaattcttcagggttgaCgctttttagcctgtttttac	8	7	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:27950456C>T	ENST00000379992.2	-	6	663	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	72						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAGGGTTGACGCTTTTTAGC	0.438																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(214-216)Gtc>Atc		leucine rich repeat and Ig domain containing 2							227	232	230					9																	27950456		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950456C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.214G>A	9.37:g.27950456C>T	ENSP00000369328:p.Val72Ile					LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	663	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	72					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.214G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345908	0.24426	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79940	-1.32;-1.32	5.74	-0.389	0.12455	.	0.260319	0.39146	N	0.001448	T	0.51058	0.1652	N	0.02916	-0.46	0.28877	N	0.894603	B	0.10296	0.003	B	0.16722	0.016	T	0.40997	-0.9533	9	.	.	.	.	6.2594	0.20891	0.0:0.4835:0.1174:0.3991	.	72	Q7L985	LIGO2_HUMAN	I	72	ENSP00000369328:V72I;ENSP00000310126:V72I	.	V	-	1	0	LINGO2	27940456	0.005000	0.15991	0.032000	0.17829	0.948000	0.59901	-0.024000	0.12435	-0.259000	0.09432	0.561000	0.74099	GTC		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		138	782	0	0	0	0.139131	0	138	782					T	27950456	C	T	27950456	3	4	61	1	0	0	0	0	1	0	0	0	8848	536	19	1	1610	1	LINGO2	9	27950456	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		27950456	113262975	57	7391											
ZFP37	7539	broad.mit.edu	37	chr9	115818910	115818912	+	In_Frame_Del	DEL	CTC	CTC	-													ctttggtcgtttccgcacttCtcctccggtccacggtctct							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:115818910_115818912delCTC	ENST00000374227.3	-	1	84_86	c.57_59delGAG	c.(55-60)aggaga>aga	p.19_20RR>R	ZFP37_ENST00000553380.1_In_Frame_Del_p.19_20RR>R|ZFP37_ENST00000555206.1_In_Frame_Del_p.19_20RR>R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R20K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTCCA	0.665																																						ENST00000374227.3																			1	Substitution - Missense(1)	p.R20K(1)	ovary(1)	NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(55-60)aga>ag		ZFP37 zinc finger protein																																				SO:0001651	inframe_deletion	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818910_115818912delCTC	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.57_59delGAG	9.37:g.115818913_115818915delCTC	ENSP00000363344:p.Arg20del					ZFP37_ENST00000555206.1_In_Frame_Del_p.RR19del|ZFP37_ENST00000553380.1_In_Frame_Del_p.RR19del	p.RR19del			Q9Y6Q3	ZFP37_HUMAN			1	84_86	-			19					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	In_Frame_Del	DEL	ENST00000374227.3	37	c.57_59delGAG	CCDS6787.1																																																																																				0.665	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		82	831						82	831	---	---	---	---	-	115818912	CTC	-	115818910	7	5	61	1	0	1	0	1	0	0	0	0	17701	913	32	0	1849	0	ZFP37	9	115818910	In_Frame_Del	DEL	CTC	TCGA-FZ-5923-01A-12D-1609-08	87868454	115818910	25394521	58	7392											
DOLPP1	57171	broad.mit.edu	37	chr9	131849065	131849065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagtacacggtaacccGggcagaagccaggtgagttc	14	9	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:131849065G>A	ENST00000372546.4	+	7	700	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	223					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGGTAACCCGGGCAGAAGCC	0.597																																						ENST00000372546.4																			0				endometrium(3)|kidney(2)|lung(7)|skin(1)	13						c.(667-669)cGg>cAg		dolichyldiphosphatase 1							87	79	81					9																	131849065		2203	4300	6503	SO:0001583	missense	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131849065G>A	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.668G>A	9.37:g.131849065G>A	ENSP00000361625:p.Arg223Gln					DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q	p.R223Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN			7	700	+			223					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	c.668G>A	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982410	0.97173	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.973	D;B	0.64237	0.923;0.352	T	0.79050	-0.1962	9	0.42905	T	0.14	-16.5821	18.7508	0.91814	0.0:0.0:1.0:0.0	.	180;223	B0QZG4;Q86YN1	.;DOPP1_HUMAN	Q	223;180;82	.	ENSP00000361625:R223Q	R	+	2	0	DOLPP1	130888886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.436000	0.97532	2.673000	0.90976	0.555000	0.69702	CGG		0.597	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		11	414	0	0	0	0.09319	0	11	414					A	131849065	G	A	131849065	3	1	61	1	0	0	0	0	1	0	0	0	4720	1116	39	1	694	1	DOLPP1	9	131849065	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	16030155	131849065	9364366	59	7393											
SARDH	1757	broad.mit.edu	37	chr9	136529088	136529088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcaccataggtcacccCcattctctccagggcatagt	9	15	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:136529088C>G	ENST00000371872.4	-	21	2937	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R	SARDH_ENST00000439388.1_Missense_Mutation_p.G894R|SARDH_ENST00000371868.1_Missense_Mutation_p.G344R|SARDH_ENST00000469828.1_5'Flank|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	894					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGGTCACCCCCATTCTCTCC	0.577																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2680-2682)Ggg>Cgg		sarcosine dehydrogenase							148	116	127					9																	136529088		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529088C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2680G>C	9.37:g.136529088C>G	ENSP00000360938:p.Gly894Arg					SARDH_ENST00000439388.1_Missense_Mutation_p.G894R|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R|SARDH_ENST00000371868.1_Missense_Mutation_p.G344R	p.G894R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2937	-			894					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2680G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119119	0.77323	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;D;T;T	0.82255	-0.91;-1.59;-0.91;-1.29	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.85542	2.76	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.53518	0.669;0.728	D	0.90708	0.4625	10	0.51188	T	0.08	-36.4626	18.1878	0.89797	0.0:1.0:0.0:0.0	.	894;344	Q9UL12;Q5SYV2	SARDH_HUMAN;.	R	894;344;894;726	ENSP00000360938:G894R;ENSP00000360934:G344R;ENSP00000403084:G894R;ENSP00000415537:G726R	ENSP00000360934:G344R	G	-	1	0	SARDH	135518909	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.779000	0.75057	2.478000	0.83669	0.561000	0.74099	GGG		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			19	411	0	0	0	0.175082	0	19	411					G	136529088	C	G	136529088	3	3	61	1	0	0	0	0	1	0	0	0	13891	623	22	5	80	5	SARDH	9	136529088	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	4680023	136529088	4684343	60	7394											
GLT6D1	360203	broad.mit.edu	37	chr9	138516228	138516228	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcccagggtctccaccccGaactcattctggaagacctg	11	15	3	1	rs199994242	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138516228G>A	ENST00000371763.1	-	5	799	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	182					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCTCCACCCCGAACTCATTCT	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16611	0.001		0.0	False		,,,				2504	0.0					ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(544-546)ttC>ttT		glycosyltransferase 6 domain containing 1							51	52	52					9																	138516228		1939	4123	6062	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516228G>A	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.546C>T	9.37:g.138516228G>A							p.F182F	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	799	-		Myeloproliferative disorder(178;0.0821)	182						Silent	SNP	ENST00000371763.1	37	c.546C>T	CCDS43900.1																																																																																				0.577	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		31	366	0	0	0	0.153744	0	31	366					A	138516228	G	A	138516228	2	1	61	1	0	0	0	0	0	0	0	1	6497	1049	37	1		1	GLT6D1	9	138516228	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1987140	138516228	2697203	61	7395											
KCNT1	57582	broad.mit.edu	37	chr9	138683989	138683989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaaccccgagactcgCgacgagacacagctctgagc	10	16	1	3	rs141521745	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138683989C>T	ENST00000263604.3	+	31	3675	c.3675C>T	c.(3673-3675)cgC>cgT	p.R1225R	KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000298480.5_Silent_p.R1251R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000487664.1_Silent_p.R1206R			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1225					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGAGACTCGCGACGAGACAC	0.667													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16358	0.0		0.0	False		,,,				2504	0.0					ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3751-3753)cgC>cgT		potassium channel, subfamily T, member 1		C		38,4364	37.6+/-69.7	0,38,2163	29	29	29		3690	-9.5	0	9	dbSNP_134	29	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNT1	NM_020822.2		0,40,6461	TT,TC,CC		0.0233,0.8632,0.3076		1230/1236	138683989	40,12962	2201	4300	6501	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138683989C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3675C>T	9.37:g.138683989C>T						KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000487664.1_Silent_p.R1206R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000263604.3_Silent_p.R1225R	p.R1251R			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	32	3827	+		Myeloproliferative disorder(178;0.0821)	1230					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.3753C>T																																																																																					0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		12	112	0	0	0	0.09319	0	12	112					T	138683989	C	T	138683989	2	4	61	1	0	0	0	0	0	0	0	1	8121	755	27	1		1	KCNT1	9	138683989	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	167761	138683989	2529442	62	7396											
ANUBL1	93550	broad.mit.edu	37	chr10	46143814	46143814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgaagagtcagataacGgtgttaaagtgccatctccc	9	9	3	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:46143814G>A	ENST00000344646.5	-	5	712	c.497C>T	c.(496-498)cCg>cTg	p.P166L	ZFAND4_ENST00000374366.3_Missense_Mutation_p.P92L|ZFAND4_ENST00000374371.2_Missense_Mutation_p.P166L|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	166							zinc ion binding (GO:0008270)										GTCAGATAACGGTGTTAAAGT	0.378																																						ENST00000374366.3																			0											c.(274-276)cCg>cTg		zinc finger, AN1-type domain 4							152	141	144					10																	46143814		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46143814G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.497C>T	10.37:g.46143814G>A	ENSP00000339484:p.Pro166Leu					ZFAND4_ENST00000374371.2_Missense_Mutation_p.P166L|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.P166L	p.P92L			Q86XD8	ANUB1_HUMAN			6	740	-			166			Ubiquitin-like.		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.275C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080722	0.94050	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.58797	0.76;0.31;0.72	5.34	5.34	0.76211	.	0.792256	0.10916	N	0.620082	T	0.74427	0.3715	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71941	-0.4440	10	0.87932	D	0	-14.7302	16.8904	0.86085	0.0:0.0:1.0:0.0	.	166;166	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	L	166;166;92;166;48	ENSP00000339484:P166L;ENSP00000363491:P166L;ENSP00000363486:P92L	ENSP00000339484:P166L	P	-	2	0	ANUBL1	45463820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.179000	0.94861	2.631000	0.89168	0.585000	0.79938	CCG		0.378	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		17	577	0	0	0	0.175082	0	17	577					A	46143814	G	A	46143814	3	1	61	1	0	0	0	0	1	0	0	0	713	1116	39	1	1710	1	ANUBL1	10	46143814	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		46143814	89390933	63	7397											
ANK3	288	broad.mit.edu	37	chr10	61946485	61946485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggttaccttattgctcagGttcacattcgcatttctacc	7	11	3	0	rs139111941		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61946485G>C	ENST00000280772.2	-	17	2264	c.2073C>G	c.(2071-2073)aaC>aaG	p.N691K	ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	691					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATTGCTCAGGTTCACATTCG	0.502																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2071-2073)aaC>aaG		ankyrin 3, node of Ranvier (ankyrin G)							197	143	161					10																	61946485		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61946485G>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2073C>G	10.37:g.61946485G>C	ENSP00000280772:p.Asn691Lys					ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	p.N691K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			17	2264	-			691					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2073C>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725966	0.69074	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000536348	T;T;T	0.18657	2.2;2.2;2.2	6.17	4.32	0.51571	Ankyrin repeat-containing domain (4);	0.000000	0.46145	D	0.000314	T	0.47728	0.1461	M	0.85197	2.74	0.80722	D	1	P;D;D;D;D	0.89917	0.921;0.999;1.0;0.992;0.999	B;D;D;P;P	0.97110	0.205;0.968;1.0;0.658;0.899	T	0.52837	-0.8522	10	0.72032	D	0.01	.	10.0022	0.41935	0.2962:0.0:0.7038:0.0	.	674;352;235;685;691	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	K	691;685;674;653;352;235	ENSP00000280772:N691K;ENSP00000362933:N685K;ENSP00000425236:N674K	ENSP00000280772:N691K	N	-	3	2	ANK3	61616491	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.484000	0.35508	1.632000	0.50472	0.655000	0.94253	AAC		0.502	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	181	0	0	0	0.058154	0	9	181					C	61946485	G	C	61946485	3	2	61	1	0	0	0	0	1	0	0	0	622	1252	44	5	11501	5	ANK3	10	61946485	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	15802671	61946485	73588262	64	7398											
MMRN2	79812	broad.mit.edu	37	chr10	88702296	88702296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggctgtggaagagccGctggtgctgctccaagctgc	15	10	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:88702296G>A	ENST00000372027.5	-	6	2566	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	749					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGAAGAGCCGCTGGTGCTGC	0.652																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2245-2247)Cgg>Tgg		multimerin 2							61	61	61					10																	88702296		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88702296G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2245C>T	10.37:g.88702296G>A	ENSP00000361097:p.Arg749Trp						p.R749W	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	2318	-			749					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2245C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071749	0.20147	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15603	2.41	5.48	2.46	0.29980	.	0.716735	0.13102	N	0.413666	T	0.18215	0.0437	L	0.50333	1.59	0.09310	N	1	D;D;D	0.63880	0.991;0.978;0.993	B;B;B	0.44315	0.446;0.328;0.405	T	0.09975	-1.0650	10	0.66056	D	0.02	-8.1891	8.627	0.33895	0.0:0.2566:0.3489:0.3945	.	527;688;749	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	W	749;527	ENSP00000361097:R749W	ENSP00000361097:R749W	R	-	1	2	MMRN2	88692276	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.175000	0.16762	0.212000	0.20703	0.455000	0.32223	CGG		0.652	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		13	414	0	0	0	0.11911	0	13	414					A	88702296	G	A	88702296	3	1	61	1	0	0	0	0	1	0	0	0	9712	1086	38	1	612	1	MMRN2	10	88702296	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	26755811	88702296	46832451	65	7399											
FOXI2	399823	broad.mit.edu	37	chr10	129536923	129536923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgggaggggccgaggcGccagcgctggagcccccgag	20	13	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:129536923G>A	ENST00000388920.4	+	2	690	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)				GGGCCGAGGCGCCAGCGCTGG	0.687																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(649-651)gcG>gcA		forkhead box I2							12	14	14					10																	129536923		2161	4224	6385	SO:0001819	synonymous_variant	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.chr10:129536923G>A	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.651G>A	10.37:g.129536923G>A							p.A217A	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			2	690	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	217						Silent	SNP	ENST00000388920.4	37	c.651G>A	CCDS7655.2																																																																																				0.687	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		12	44	0	0	0	0.080935	0	12	44					A	129536923	G	A	129536923	2	1	61	1	0	0	0	0	0	0	0	1	6037	1074	38	1		1	FOXI2	10	129536923	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	40834627	129536923	5997824	66	7400											
JAKMIP3	282973	broad.mit.edu	37	chr10	133958614	133958614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcccgtcctacagaccCgtgagcagctacaagccgaa	8	16	0	2	rs373222736		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:133958614C>T	ENST00000298622.4	+	11	1744	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	536						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTACAGACCCGTGAGCAGCT	0.572																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1606-1608)Cgt>Tgt		Janus kinase and microtubule interacting protein 3		C	CYS/ARG	0,4400		0,0,2200	24	24	24		1606	4.4	1	10		24	1,8585	1.2+/-3.3	0,1,4292	no	missense	JAKMIP3	NM_001105521.2	180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	536/845	133958614	1,12985	2200	4293	6493	SO:0001583	missense	282973							g.chr10:133958614C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1606C>T	10.37:g.133958614C>T	ENSP00000298622:p.Arg536Cys					JAKMIP3_ENST00000477275.1_3'UTR	p.R536C	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	11	1744	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1606C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451038	0.84209	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.28069	1.63	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67397	2.05	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.59380	-0.7465	10	0.62326	D	0.03	-6.9023	17.2152	0.86941	0.0:1.0:0.0:0.0	.	536	Q5VZ66	JKIP3_HUMAN	C	536	ENSP00000298622:R536C	ENSP00000298622:R536C	R	+	1	0	JAKMIP3	133808604	0.997000	0.39634	1.000000	0.80357	0.873000	0.50193	4.298000	0.59067	2.289000	0.77006	0.478000	0.44815	CGT		0.572	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		8	86	0	0	0	0.047766	0	8	86					T	133958614	C	T	133958614	3	4	61	1	0	0	0	0	1	0	0	0	7972	652	23	1	1648	1	JAKMIP3	10	133958614	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	4421691	133958614	1576133	67	7401											
B4GALNT4	338707	broad.mit.edu	37	chr11	373804	373804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacaagcaggacgaccgCggctcggaccacgtggaagt	14	13	0	0	rs149327151	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:373804C>T	ENST00000329962.6	+	8	759	c.759C>T	c.(757-759)cgC>cgT	p.R253R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	253					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACGACCGCGGCTCGGACC	0.642													.|||	11	0.00219649	0.0	0.0	5008	,	,		16813	0.001		0.0	False		,,,				2504	0.0102					ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(757-759)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 4		C		0,4390		0,0,2195	79	72	74		759	-8.8	0.2	11	dbSNP_134	74	7,8573	5.0+/-18.6	0,7,4283	no	coding-synonymous	B4GALNT4	NM_178537.4		0,7,6478	TT,TC,CC		0.0816,0.0,0.054		253/1040	373804	7,12963	2195	4290	6485	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373804C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.759C>T	11.37:g.373804C>T							p.R253R	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	759	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	253					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.759C>T	CCDS7694.1																																																																																				0.642	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		10	329	0	0	0	0.069234	0	10	329					T	373804	C	T	373804	2	4	61	1	0	0	0	0	0	0	0	1	1270	755	27	1		1	B4GALNT4	11	373804	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		373804	134632712	68	7402											
RBMXL2	27288	broad.mit.edu	37	chr11	7111150	7111150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacggctacggaggtcgcGaccgtgactacggggatcat	16	10	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7111150G>A	ENST00000306904.5	+	1	986	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	267	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGAGGTCGCGACCGTGACTA	0.672																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(799-801)Gac>Aac		RNA binding motif protein, X-linked-like 2							26	30	29					11																	7111150		2196	4293	6489	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111150G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.799G>A	11.37:g.7111150G>A	ENSP00000304139:p.Asp267Asn						p.D267N	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	986	+			267			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.799G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166618	0.38217	.	.	ENSG00000170748	ENST00000306904	T	0.79033	-1.23	3.08	2.16	0.27623	.	0.329620	0.31188	U	0.008081	T	0.63570	0.2522	M	0.62723	1.935	0.22185	N	0.999308	P	0.47545	0.897	B	0.26770	0.073	T	0.59343	-0.7472	10	0.41790	T	0.15	.	8.1948	0.31389	0.1269:0.0:0.8731:0.0	.	267	O75526	HNRGT_HUMAN	N	267	ENSP00000304139:D267N	ENSP00000304139:D267N	D	+	1	0	RBMXL2	7067726	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	4.576000	0.60915	0.850000	0.35239	0.467000	0.42956	GAC		0.672	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		32	189	0	0	0	0.163468	0	32	189					A	7111150	G	A	7111150	3	1	61	1	0	0	0	0	1	0	0	0	13204	1058	37	1	801	1	RBMXL2	11	7111150	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	6737346	7111150	127895366	69	7403											
USH1C	10083	broad.mit.edu	37	chr11	17531093	17531093	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtgggaacggatggcGggggagggatgggaatgggg	25	3	0	0	rs41282932	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:17531093G>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.P608L|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AACGGATGGCGGGGGAGGGAT	0.662																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48	GRCh37	CM024262	ush1cpst	M	rs41282932	c.(1822-1824)cCg>cTg		Usher syndrome 1C (autosomal recessive, severe)							20	22	21					11																	17531093		2200	4292	6492	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531093G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7566C>T	11.37:g.17531093G>A						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	p.P608L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1822	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1823C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462832	0.63513	.	.	ENSG00000006611	ENST00000005226	T	0.41065	1.01	5.84	5.84	0.93424	.	0.114258	0.64402	D	0.000012	T	0.41789	0.1174	.	.	.	0.51482	D	0.999926	D	0.63880	0.993	P	0.50136	0.632	T	0.07868	-1.0750	9	0.11485	T	0.65	.	17.0503	0.86517	0.0:0.0:1.0:0.0	.	608	Q7RTU8	.	L	608	ENSP00000005226:P608L	ENSP00000005226:P608L	P	-	2	0	USH1C	17487669	1.000000	0.71417	0.928000	0.36995	0.478000	0.33099	5.675000	0.68123	2.767000	0.95098	0.591000	0.81541	CCG		0.662	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		3	99	0	0	0	0.115264	0	3	99					A	17531093	G	A	17531093	1	1	61	0	1	0	0	0	0	0	0	0	17088	1116	39	1		1	USH1C	11	17531093	Intron	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	10419943	17531093	117475423	70	7404											
ATM	472	broad.mit.edu	37	chr11	108141784	108141791	+	Splice_Site	DEL	ATCTTAGT	ATCTTAGT	-													tgatttttttccctcctaccAtcttagtatctaatgctttt							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:108141784_108141791delATCTTAGT	ENST00000452508.2	+	20	3027_3028	c.2838_2839delATCTTAGT	c.(2836-2841)atatct>atct	p.S947fs	ATM_ENST00000278616.4_Splice_Site_p.S947fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	947					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCCTCCTACCATCTTAGTATCTAATGCT	0.389			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CX032786	ATM	X		c.e19-1	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001630	splice_region_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108141784_108141791delATCTTAGT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2839-1ATCTTAGT>-	11.37:g.108141784_108141791delATCTTAGT		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Splice_Site_p.I946_splice	p.I946_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	19	3223_3224	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	946					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	DEL	ENST00000452508.2	37	c.2838_splice	CCDS31669.1																																																																																				0.389	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Frame_Shift_Del	23	203						23	203	---	---	---	---	-	108141791	ATCTTAGT	-	108141784	8	5	61	1	0	1	0	1	0	0	1	0	1110	232	8	0		0	ATM	11	108141784	Splice_Site	DEL	ATCTTAGT	TCGA-FZ-5923-01A-12D-1609-08	90610691	108141784	26864732	71	7405											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	583						7	583	---	---	---	---	-	118427685	ATC	-	118427683	7	5	61	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-FZ-5923-01A-12D-1609-08	10285899	118427683	16578833	72	7406											
OR8B12	219858	broad.mit.edu	37	chr11	124413511	124413511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctggtgggttaagccttCgaggataaactctgtcacag	13	9	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:124413511C>T	ENST00000306842.2	-	1	64	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTAAGCCTTCGAGGATAAAC	0.527																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(40-42)Gaa>Aaa		olfactory receptor, family 8, subfamily B, member 12							35	39	38					11																	124413511		2199	4296	6495	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413511C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.40G>A	11.37:g.124413511C>T	ENSP00000307159:p.Glu14Lys						p.E14K	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	64	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	14					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.40G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	4.997	0.185119	0.09495	.	.	ENSG00000170953	ENST00000306842	T	0.00428	7.44	3.89	-2.85	0.05734	.	1.175280	0.06306	N	0.701801	T	0.00210	0.0006	L	0.28608	0.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	10	0.15952	T	0.53	.	0.5361	0.00637	0.2405:0.2212:0.3029:0.2355	.	14	Q8NGG6	OR8BC_HUMAN	K	14	ENSP00000307159:E14K	ENSP00000307159:E14K	E	-	1	0	OR8B12	123918721	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-2.011000	0.01452	-0.570000	0.06022	-0.188000	0.12872	GAA		0.527	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			46	341	0	0	0	0.139131	0	46	341					T	124413511	C	T	124413511	3	4	61	1	0	0	0	0	1	0	0	0	11268	893	31	1	894	1	OR8B12	11	124413511	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	5985828	124413511	10593005	73	7407											
LRTM2	654429	broad.mit.edu	37	chr12	1943539	1943539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgctcccagctggaggaCgagaatagctcagctgggct	13	11	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:1943539C>T	ENST00000543818.1	+	5	1607	c.765C>T	c.(763-765)gaC>gaT	p.D255D	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Silent_p.D255D|LRTM2_ENST00000535041.1_Silent_p.D255D|LRTM2_ENST00000543730.1_3'UTR	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	255						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCTGGAGGACGAGAATAGCT	0.637																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(763-765)gaC>gaT		leucine-rich repeats and transmembrane domains 2							55	44	48					12																	1943539		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943539C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.765C>T	12.37:g.1943539C>T						LRTM2_ENST00000299194.1_Silent_p.D255D|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.D255D	p.D255D	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1607	+	Ovarian(42;0.107)		255					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.765C>T	CCDS31726.1																																																																																				0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			23	237	0	0	0	0.069288	0	23	237					T	1943539	C	T	1943539	2	4	61	1	0	0	0	0	0	0	0	1	9083	535	19	1		1	LRTM2	12	1943539	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		1943539	131908356	74	7408											
C12orf39	80763	broad.mit.edu	37	chr12	21680123	21680123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctctacctgaaagggGcacgtaagttccaaatattt	8	9	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:21680123G>A	ENST00000256969.2	+	3	308	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		48					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTGAAAGGGGCACGTAAGTT	0.458																																						ENST00000256969.2																			0				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(142-144)Gca>Aca		chromosome 12 open reading frame 39							102	100	101					12																	21680123		2203	4300	6503	SO:0001583	missense	80763					extracellular region|nucleus|transport vesicle		g.chr12:21680123G>A																												ENST00000256969.2:c.142G>A	12.37:g.21680123G>A	ENSP00000256969:p.Ala48Thr						p.A48T	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN			3	308	+			48					B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	c.142G>A	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327122	0.60743	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.58	3.68	0.42216	.	0.064058	0.64402	D	0.000006	T	0.43942	0.1270	L	0.41710	1.295	0.36257	D	0.854307	P	0.46784	0.884	B	0.43155	0.41	T	0.52830	-0.8523	9	0.36615	T	0.2	-0.8569	11.4113	0.49927	0.0904:0.0:0.9096:0.0	.	48	Q9BT56	SPXN_HUMAN	T	48	.	ENSP00000256969:A48T	A	+	1	0	C12orf39	21571390	0.998000	0.40836	0.988000	0.46212	0.857000	0.48899	3.023000	0.49666	2.530000	0.85305	0.591000	0.81541	GCA		0.458	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			18	443	0	0	0	0.175082	0	18	443					A	21680123	G	A	21680123	3	1	61	1	0	0	0	0	1	0	0	0	1689	1203	42	2	152	2	C12orf39	12	21680123	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19736584	21680123	112171772	75	7409											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	108	0	0	0	0.080935	0	11	108					T	25398284	C	T	25398284	3	4	61	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3718161	25398284	108453611	76	7410											
ACCN2	41	broad.mit.edu	37	chr12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-													caaggatggaactgaaggccGaggaggaggaggtgggtggc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	610						7	610	---	---	---	---	-	50452567	GAG	-	50452565	7	5	61	1	0	1	0	1	0	0	0	0	129	1059	37	0	18	0	ACCN2	12	50452565	In_Frame_Del	DEL	GAG	TCGA-FZ-5923-01A-12D-1609-08	25054281	50452565	83399330	77	7411											
CNPY2	10330	broad.mit.edu	37	chr12	56705188	56705188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgggcctctgagcggGcataaggcacctagaaatgt	15	8	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:56705188G>A	ENST00000273308.4	-	4	755	c.215C>T	c.(214-216)gCc>gTc	p.A72V	CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A72V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	72	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CTCTGAGCGGGCATAAGGCAC	0.473																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(214-216)gCc>gTc		canopy FGF signaling regulator 2							108	107	108					12																	56705188		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705188G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.215C>T	12.37:g.56705188G>A	ENSP00000273308:p.Ala72Val					CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A72V|RP11-977G19.11_ENST00000549565.1_RNA	p.A72V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	755	-			72			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.215C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968230	0.92855	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.38	5.38	0.77491	Saposin B (1);	0.232964	0.42420	D	0.000707	T	0.60521	0.2275	M	0.77486	2.375	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	T	0.57877	-0.7735	10	0.34782	T	0.22	-14.6712	18.277	0.90087	0.0:0.0:1.0:0.0	.	72	Q9Y2B0	CNPY2_HUMAN	V	72;72;72;20	ENSP00000446743:A72V;ENSP00000273308:A72V;ENSP00000448809:A72V;ENSP00000446784:A20V	ENSP00000273308:A72V	A	-	2	0	RP11-977G19.10;CNPY2	54991455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.630000	0.98420	2.695000	0.91970	0.561000	0.74099	GCC		0.473	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		6	551	0	0	0	0.021553	0	6	551					A	56705188	G	A	56705188	3	1	61	1	0	0	0	0	1	0	0	0	3637	1203	42	2	345	2	CNPY2	12	56705188	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	6252623	56705188	77146707	78	7412											
THAP2	83591	broad.mit.edu	37	chr12	72070632	72070632	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcattaaactggaaaaagAaatagcaagcttaagaagaa	8	4	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:72070632A>T	ENST00000308086.2	+	3	1932	c.431A>T	c.(430-432)gAa>gTa	p.E144V	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	144						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGAAAAAGAAATAGCAAGC	0.358																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(430-432)gAa>gTa		THAP domain containing, apoptosis associated protein 2							74	77	76					12																	72070632		2203	4299	6502	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070632A>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.431A>T	12.37:g.72070632A>T	ENSP00000310796:p.Glu144Val					RP11-293I14.2_ENST00000548802.1_Intron	p.E144V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			3	1932	+			144					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.431A>T	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059949	0.55325	.	.	ENSG00000173451	ENST00000308086;ENST00000551488;ENST00000551238	D;D;D	0.96265	-3.96;-2.81;-2.81	6.04	6.04	0.98038	.	0.316535	0.29631	N	0.011609	D	0.94568	0.8250	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	D	0.95060	0.8195	10	0.40728	T	0.16	.	15.4125	0.74937	1.0:0.0:0.0:0.0	.	144	Q9H0W7	THAP2_HUMAN	V	144;72;72	ENSP00000310796:E144V;ENSP00000448904:E72V;ENSP00000446986:E72V	ENSP00000310796:E144V	E	+	2	0	THAP2	70356899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.682000	0.68182	2.317000	0.78254	0.460000	0.39030	GAA		0.358	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		33	248	0	0	0	0.163468	0	33	248					T	72070632	A	T	72070632	3	4	61	1	0	0	0	0	1	0	0	0	15896	246	9	5	441	5	THAP2	12	72070632	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	15365444	72070632	61781263	79	7413											
C12orf51	283450	broad.mit.edu	37	chr12	112622141	112622141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctgcccaggctgccGgtgctgcacagggaaatgtc	14	14	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:112622141G>A	ENST00000430131.2	-	60	10508	c.9363C>T	c.(9361-9363)acC>acT	p.T3121T	HECTD4_ENST00000550722.1_Silent_p.T3397T|HECTD4_ENST00000377560.5_Silent_p.T3371T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3121					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ccaggctgccGGTGCTGCACA	0.677																																						ENST00000550722.1																			0											c.(10189-10191)acC>acT		HECT domain containing E3 ubiquitin protein ligase 4							21	27	25					12																	112622141		1987	4164	6151	SO:0001819	synonymous_variant	283450							g.chr12:112622141G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9363C>T	12.37:g.112622141G>A						HECTD4_ENST00000377560.5_Silent_p.T3371T|HECTD4_ENST00000430131.2_Silent_p.T3121T	p.T3397T	NM_001109662.3	NP_001103132.3					61	10586	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10191C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	249	0	0	0	0.132662	0	16	249					A	112622141	G	A	112622141	2	1	61	1	0	0	0	0	0	0	0	1	1701	1103	39	1		1	C12orf51	12	112622141	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	40551509	112622141	21229754	80	7414											
NOS1	4842	broad.mit.edu	37	chr12	117768312	117768312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactctggttgctttcttcGcggggtcctggcctgggggc	16	11	2	1	rs374847966	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:117768312G>A	ENST00000338101.4	-	1	567	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V|NOS1_ENST00000317775.6_Missense_Mutation_p.A188V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				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)			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)		TGCTTTCTTCGCGGGGTCCTG	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		16394	0.0		0.0	False		,,,				2504	0.0041				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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						c.(562-564)gCg>gTg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	G	VAL/ALA,VAL/ALA	2,3990		0,2,1994	81	88	85		563,563	0.7	0	12		85	0,8350		0,0,4175	no	missense,missense	NOS1	NM_000620.4,NM_001204218.1	64,64	0,2,6169	AA,AG,GG		0.0,0.0501,0.0162	benign,benign	188/1435,188/1469	117768312	2,12340	1996	4175	6171	SO:0001583	missense	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.chr12:117768312G>A		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.563C>T	12.37:g.117768312G>A	ENSP00000337459:p.Ala188Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A188V|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V	p.A188V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1248	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		188			Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.			Missense_Mutation	SNP	ENST00000338101.4	37	c.563C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391357	0.25118	5.01E-4	0.0	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05717	4.97;3.4;4.97	4.74	0.685	0.18009	.	1.602270	0.03266	N	0.184023	T	0.04363	0.0120	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.12103	T	0.63	-10.0904	3.9763	0.09476	0.2403:0.0:0.3261:0.4336	.	188	P29475	NOS1_HUMAN	V	188	ENSP00000320758:A188V;ENSP00000339862:A188V;ENSP00000337459:A188V	ENSP00000320758:A188V	A	-	2	0	NOS1	116252695	0.000000	0.05858	0.011000	0.14972	0.032000	0.12392	0.306000	0.19279	-0.047000	0.13423	-0.263000	0.10527	GCG		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			31	775	0	0	0	0.134883	0	31	775					A	117768312	G	A	117768312	3	1	61	1	0	0	0	0	1	0	0	0	10583	1087	38	1	3853	1	NOS1	12	117768312	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	5146171	117768312	16083583	81	7415											
EP400	57634	broad.mit.edu	37	chr12	132466743	132466743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagaacgctgccagctTgcacaccccactgccgcagc	10	18	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:132466743T>C	ENST00000333577.4	+	6	1866	c.1757T>C	c.(1756-1758)tTg>tCg	p.L586S	EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S|EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S			Q96L91	EP400_HUMAN	E1A binding protein p400	586					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGCCAGCTTGCACACCCCA	0.697																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1756-1758)tTg>tCg		E1A binding protein p400							44	53	50					12																	132466743		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466743T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1757T>C	12.37:g.132466743T>C	ENSP00000333602:p.Leu586Ser					EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S	p.L586S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1866	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	586					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1757T>C		.	.	.	.	.	.	.	.	.	.	T	14.15	2.449734	0.43531	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93811	-3.29;-3.02;-2.99;-2.73;-2.96	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.96093	0.8727	M	0.67953	2.075	0.35443	D	0.79507	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99505	1.0954	10	0.59425	D	0.04	.	15.8317	0.78757	0.0:0.0:0.0:1.0	.	550;550;549;586;513	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	S	513;586;550;549;513;550;586;550;550	ENSP00000333602:L586S;ENSP00000374212:L550S;ENSP00000374213:L549S;ENSP00000331737:L513S;ENSP00000330620:L550S	ENSP00000330620:L550S	L	+	2	0	EP400	131032696	1.000000	0.71417	0.988000	0.46212	0.650000	0.38633	7.551000	0.82182	2.136000	0.66102	0.533000	0.62120	TTG		0.697	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		48	632	0	0	0	0.139131	0	48	632					C	132466743	T	C	132466743	3	2	61	1	0	0	0	0	1	0	0	0	5167	1821	63	4	1660	4	EP400	12	132466743	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	14698431	132466743	1385152	82	7416											
FLT1	2321	broad.mit.edu	37	chr13	28908198	28908198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccacagtccggcacgtagGtgatttcttaatgccaaatg	10	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:28908198G>T	ENST00000282397.4	-	18	2808	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGCACGTAGGTGATTTCTTA	0.428																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2557-2559)Cct>Act		fms-related tyrosine kinase 1	Sunitinib(DB01268)						195	174	181					13																	28908198		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28908198G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2557C>A	13.37:g.28908198G>T	ENSP00000282397:p.Pro853Thr					FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	p.P853T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	18	2808	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	853			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2557C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226424	0.22542	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.81996	-1.56;-1.56	5.76	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124676	0.56097	D	0.000027	T	0.67674	0.2918	N	0.11870	0.19	0.49582	D	0.999802	P	0.36086	0.536	B	0.39590	0.304	T	0.61217	-0.7107	10	0.30854	T	0.27	.	6.352	0.21381	0.0697:0.1325:0.6603:0.1375	.	853	P17948	VGFR1_HUMAN	T	853;71	ENSP00000282397:P853T;ENSP00000443311:P71T	ENSP00000282397:P853T	P	-	1	0	FLT1	27806198	0.991000	0.36638	0.604000	0.28916	0.812000	0.45895	2.164000	0.42387	0.744000	0.32741	0.655000	0.94253	CCT		0.428	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			96	700	1	0	1.90545e-35	0.139131	2.1087e-35	96	700					T	28908198	G	T	28908198	3	4	61	1	0	0	0	0	1	0	0	0	5966	1261	44	3	1511	3	FLT1	13	28908198	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		28908198	86261680	83	7417											
MTUS2	23281	broad.mit.edu	37	chr13	29598940	29598940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttaagtctgggagatacGaatgccaatcaaatcatgtt	8	7	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:29598940G>A	ENST00000431530.3	+	1	193	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	35						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGAGATACGAATGCCAATC	0.438																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(133-135)acG>acA		microtubule associated tumor suppressor candidate 2							63	60	61					13																	29598940		1933	4137	6070	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598940G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.135G>A	13.37:g.29598940G>A							p.T45T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	193	+			35					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.135G>A	CCDS45022.1																																																																																				0.438	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		10	214	0	0	0	0.058154	0	10	214					A	29598940	G	A	29598940	2	1	61	1	0	0	0	0	0	0	0	1	10007	1045	37	1		1	MTUS2	13	29598940	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	690742	29598940	85570938	84	7418											
SPTB	6710	broad.mit.edu	37	chr14	65271700	65271700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcttgatgagcatgCgcccatcccgcaggtccttg	11	15	0	2	rs200814297	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:65271700C>T	ENST00000389721.5	-	2	289	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPTB_ENST00000556626.1_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000389722.3_Missense_Mutation_p.R86H|SPTB_ENST00000389720.3_Missense_Mutation_p.R86H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	86	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGAGCATGCGCCCATCCCG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		17124	0.0		0.001	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(256-258)cGc>cAc		spectrin, beta, erythrocytic							88	86	87					14																	65271700		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65271700C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.257G>A	14.37:g.65271700C>T	ENSP00000374371:p.Arg86His					SPTB_ENST00000389720.3_Missense_Mutation_p.R86H|SPTB_ENST00000389721.5_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000556626.1_Missense_Mutation_p.R86H	p.R86H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	2	310	-		all_lung(585;4.15e-09)	86			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.257G>A	CCDS32100.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.3	4.818640	0.90790	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.67	3.79	0.43588	Calponin homology domain (5);	0.063724	0.64402	D	0.000018	T	0.54935	0.1889	N	0.04724	-0.175	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.978	T	0.64300	-0.6440	10	0.72032	D	0.01	.	12.1813	0.54214	0.0:0.915:0.0:0.085	.	86;90	P11277;Q59FP5	SPTB1_HUMAN;.	H	90;86;86;86;86;86	ENSP00000374372:R86H;ENSP00000451752:R86H;ENSP00000374371:R86H;ENSP00000443882:R86H;ENSP00000374370:R86H	ENSP00000374370:R86H	R	-	2	0	SPTB	64341453	1.000000	0.71417	0.924000	0.36721	0.990000	0.78478	5.779000	0.68948	1.338000	0.45544	0.650000	0.86243	CGC		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			7	474	0	0	0	0.038147	0	7	474					T	65271700	C	T	65271700	3	4	61	1	0	0	0	0	1	0	0	0	15170	768	27	1	6934	1	SPTB	14	65271700	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		65271700	42077840	85	7419											
FBN1	2200	broad.mit.edu	37	chr15	48780430	48780430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggagatatgcggcattCgtcaatgtctgcacaaaaac	10	9	3	1	rs137854478		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:48780430C>T	ENST00000316623.5	-	27	3672	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1073	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in MFS; severe neonatal; dbSNP:rs137854478). {ECO:0000269|PubMed:7611299, ECO:0000269|PubMed:8882780}.		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)			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)		ATGCGGCATTCGTCAATGTCT	0.453																																						ENST00000316623.5																			0				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	GRCh37	CM950442	FBN1	M	rs137854478	c.(3217-3219)Gaa>Aaa		fibrillin 1							63	57	59					15																	48780430		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.chr15:48780430C>T	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.3217G>A	15.37:g.48780430C>T	ENSP00000325527:p.Glu1073Lys						p.E1073K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	27	3672	-		all_lung(180;0.00279)	1073		E -> K (in MFS; severe neonatal).	EGF-like 16; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3217G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.205789	0.97376	.	.	ENSG00000166147	ENST00000316623	D	0.98849	-5.18	6.17	6.17	0.99709	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	0.99342	0.9769	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99208	1.0875	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1073	P35555	FBN1_HUMAN	K	1073	ENSP00000325527:E1073K	ENSP00000325527:E1073K	E	-	1	0	FBN1	46567722	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			31	296	0	0	0	0.134883	0	31	296					T	48780430	C	T	48780430	3	4	61	1	0	0	0	0	1	0	0	0	5727	893	31	1	5558	1	FBN1	15	48780430	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		48780430	53750962	86	7420											
POLG	5428	broad.mit.edu	37	chr15	89876526	89876526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcaacagcaagttggCcgcctccaggtagggcaggc	15	13	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:89876526C>T	ENST00000268124.5	-	2	793	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000442287.2_Missense_Mutation_p.A154T|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	154					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAAGTTGGCCGCCTCCAGG	0.731								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(460-462)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							10	11	10					15																	89876526		2134	4169	6303	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876526C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.460G>A	15.37:g.89876526C>T	ENSP00000268124:p.Ala154Thr					POLG_ENST00000442287.2_Missense_Mutation_p.A154T	p.A154T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	793	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		154					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.460G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353170	0.82132	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.90620	-2.7;-2.7	4.79	3.85	0.44370	Ribonuclease H-like (1);	0.170724	0.50627	D	0.000102	D	0.94745	0.8304	M	0.80746	2.51	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	D	0.93549	0.6885	10	0.31617	T	0.26	-13.4122	14.5144	0.67809	0.0:0.8522:0.1478:0.0	.	154	P54098	DPOG1_HUMAN	T	154	ENSP00000268124:A154T;ENSP00000399851:A154T	ENSP00000268124:A154T	A	-	1	0	POLG	87677530	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.507000	0.81676	0.978000	0.38470	0.561000	0.74099	GCC		0.731	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		3	51	0	0	0	0.115264	0	3	51					T	89876526	C	T	89876526	3	4	61	1	0	0	0	0	1	0	0	0	12242	739	26	2	3347	2	POLG	15	89876526	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	41096096	89876526	12654866	87	7421											
SOX8	30812	broad.mit.edu	37	chr16	1035280	1035280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcttccactcgccgcGccggccctacgcctcacccc	7	25	1	0	rs559279447		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:1035280G>A	ENST00000293894.3	+	3	1350	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	412					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CACTCGCCGCGCCGGCCCTAC	0.692																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(1234-1236)cGc>cAc		SRY (sex determining region Y)-box 8							19	20	20					16																	1035280		2197	4291	6488	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035280G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1235G>A	16.37:g.1035280G>A	ENSP00000293894:p.Arg412His						p.R412H	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1350	+		Hepatocellular(780;0.00308)	412					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.1235G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166989	0.57476	.	.	ENSG00000005513	ENST00000293894	D	0.84070	-1.8	4.31	4.31	0.51392	.	0.052428	0.85682	D	0.000000	D	0.90407	0.6997	M	0.79805	2.47	0.49483	D	0.999798	D	0.89917	1.0	D	0.64410	0.925	D	0.92120	0.5703	10	0.87932	D	0	.	16.0175	0.80455	0.0:0.0:1.0:0.0	.	412	P57073	SOX8_HUMAN	H	412	ENSP00000293894:R412H	ENSP00000293894:R412H	R	+	2	0	SOX8	975281	0.999000	0.42202	0.924000	0.36721	0.850000	0.48378	4.362000	0.59467	2.246000	0.74042	0.650000	0.86243	CGC		0.692	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			23	137	0	0	0	0.069288	0	23	137					A	1035280	G	A	1035280	3	1	61	1	0	0	0	0	1	0	0	0	15007	1087	38	1	1245	1	SOX8	16	1035280	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		1035280	89319473	88	7422											
CPPED1	55313	broad.mit.edu	37	chr16	12875067	12875067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtggatgaggtcgccGcacagaacgaagaatttggg	16	7	0	3	rs202024707		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000433677.2_Silent_p.C88C|CPPED1_ENST00000261660.4_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0					ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(262-264)tgC>tgT		calcineurin-like phosphoesterase domain containing 1		G	,	1,4135		0,1,2067	90	97	94		264,264	-8.1	0.7	16		94	3,8423		0,3,4210	no	coding-synonymous,coding-synonymous	CPPED1	NM_001099455.1,NM_018340.2	,	0,4,6277	AA,AG,GG		0.0356,0.0242,0.0318	,	88/173,88/315	12875067	4,12558	2068	4213	6281	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875067G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.264C>T	16.37:g.12875067G>A						CPPED1_ENST00000261660.4_Silent_p.C88C|CPPED1_ENST00000433677.2_Silent_p.C88C	p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			2	504	-			88					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.264C>T	CCDS42120.1																																																																																				0.532	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		4	127	0	0	0	0.014758	0	4	127					A	12875067	G	A	12875067	2	1	61	1	0	0	0	0	0	0	0	1	3831	1079	38	1		1	CPPED1	16	12875067	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	11839787	12875067	77479686	89	7423											
ZFHX3	463	broad.mit.edu	37	chr16	72830460	72830460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggtggagggggaggtgGtggtggctctggggtctggg	27	3	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:72830460G>T	ENST00000268489.5	-	9	6793	c.6121C>A	c.(6121-6123)Cca>Aca	p.P2041T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2041	Poly-Pro.				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)			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)				GGGGGAGGTGGTGGTGGCTCT	0.617																																						ENST00000268489.5																			0				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						c.(6121-6123)Cca>Aca		zinc finger homeobox 3							39	45	43					16																	72830460		2193	4285	6478	SO:0001583	missense	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.chr16:72830460G>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.6121C>A	16.37:g.72830460G>T	ENSP00000268489:p.Pro2041Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	p.P2041T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6793	-		Ovarian(137;0.13)	2041			Poly-Pro.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6121C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	3.790	-0.043817	0.07452	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.81	5.64	4.69	0.59074	.	0.000000	0.38663	N	0.001612	T	0.61350	0.2340	N	0.20986	0.625	0.44976	D	0.997991	B	0.14438	0.01	B	0.08055	0.003	T	0.56025	-0.8047	10	0.33940	T	0.23	.	13.9878	0.64345	0.0733:0.0:0.9267:0.0	.	2041	Q15911	ZFHX3_HUMAN	T	2041;1127	ENSP00000268489:P2041T;ENSP00000438926:P1127T	ENSP00000268489:P2041T	P	-	1	0	ZFHX3	71387961	1.000000	0.71417	0.013000	0.15412	0.084000	0.17831	6.194000	0.72082	1.372000	0.46190	0.655000	0.94253	CCA		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	277	1	0	2.89027e-11	0.069288	3.09538e-11	21	277					T	72830460	G	T	72830460	3	4	61	1	0	0	0	0	1	0	0	0	17687	1261	44	3	4998	3	ZFHX3	16	72830460	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	59955393	72830460	17524293	90	7424											
CHST6	4166	broad.mit.edu	37	chr16	75512997	75512997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtggctacggcacacctCgcgcaccacgcgcaggccgg	13	17	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:75512997C>T	ENST00000332272.4	-	3	909	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	244					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)			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						CGGCACACCTCGCGCACCACG	0.716																																						ENST00000332272.4																			0				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						c.(730-732)Gag>Aag		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							19	22	21					16																	75512997		2181	4275	6456	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512997C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.730G>A	16.37:g.75512997C>T	ENSP00000328983:p.Glu244Lys					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	909	-			244					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.730G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273669	0.40194	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.84070	-1.8;-1.8	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.054593	0.64402	D	0.000001	T	0.72407	0.3456	L	0.41415	1.275	0.54753	D	0.999985	P	0.43662	0.814	B	0.37508	0.252	T	0.72544	-0.4261	10	0.06365	T	0.9	.	14.9564	0.71116	0.0:1.0:0.0:0.0	.	244	Q9GZX3	CHST6_HUMAN	K	244	ENSP00000328983:E244K;ENSP00000375079:E244K	ENSP00000328983:E244K	E	-	1	0	CHST6	74070498	1.000000	0.71417	0.958000	0.39756	0.159000	0.22180	4.836000	0.62789	2.121000	0.65114	0.591000	0.81541	GAG		0.716	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		28	198	0	0	0	0.125774	0	28	198					T	75512997	C	T	75512997	3	4	61	1	0	0	0	0	1	0	0	0	3417	893	31	1	461	1	CHST6	16	75512997	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2682537	75512997	14841756	91	7425											
MYH4	4622	broad.mit.edu	37	chr17	10360755	10360755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcttcagcagtttgtgCcccagagaagaggaaagcca	11	11	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:10360755C>T	ENST00000255381.2	-	16	1989	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	627	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCAGTTTGTGCCCCAGAGAAG	0.458																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1879-1881)Gca>Aca		myosin, heavy chain 4, skeletal muscle							69	67	68					17																	10360755		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360755C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1879G>A	17.37:g.10360755C>T	ENSP00000255381:p.Ala627Thr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A627T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1989	-			627			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1879G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652326	0.29336	.	.	ENSG00000141048	ENST00000255381	D	0.87809	-2.3	5.01	3.02	0.34903	Myosin head, motor domain (2);	0.873392	0.09141	U	0.842917	T	0.78413	0.4279	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.66360	-0.5943	10	0.62326	D	0.03	.	5.0816	0.14659	0.1647:0.6585:0.0:0.1768	.	627	Q9Y623	MYH4_HUMAN	T	627	ENSP00000255381:A627T	ENSP00000255381:A627T	A	-	1	0	MYH4	10301480	.	.	0.294000	0.24946	0.121000	0.20230	.	.	0.639000	0.30564	-0.258000	0.10820	GCA		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	304	0	0	0	0.014758	0	5	304					T	10360755	C	T	10360755	3	4	61	1	0	0	0	0	1	0	0	0	10078	739	26	2	4040	2	MYH4	17	10360755	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		10360755	70834455	92	7426											
IGFBP4	3487	broad.mit.edu	37	chr17	38612726	38612726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctctggatgggcagcGtggcaagtgctggtgtgtgg	18	9	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:38612726G>A	ENST00000269593.4	+	4	943	c.668G>A	c.(667-669)cGt>cAt	p.R223H	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	223	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGGGCAGCGTGGCAAGTGC	0.627																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(667-669)cGt>cAt		insulin-like growth factor binding protein 4							54	57	56					17																	38612726		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38612726G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.668G>A	17.37:g.38612726G>A	ENSP00000269593:p.Arg223His					IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	p.R223H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	943	+		Breast(137;0.000496)	223			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.668G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045947	0.93685	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.65364	-0.15;-0.15	5.43	5.43	0.79202	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.80422	2.495	0.48395	D	0.999646	D	0.89917	1.0	D	0.97110	1.0	T	0.83160	-0.0099	10	0.87932	D	0	-17.5412	17.0572	0.86537	0.0:0.0:1.0:0.0	.	223	P22692	IBP4_HUMAN	H	123;223	ENSP00000437734:R123H;ENSP00000269593:R223H	ENSP00000269593:R223H	R	+	2	0	IGFBP4	35866252	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	8.449000	0.90337	2.546000	0.85860	0.655000	0.94253	CGT		0.627	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		9	443	0	0	0	0.069234	0	9	443					A	38612726	G	A	38612726	3	1	61	1	0	0	0	0	1	0	0	0	7611	1145	40	1	682	1	IGFBP4	17	38612726	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	28251971	38612726	42582484	93	7427											
ASB16	92591	broad.mit.edu	37	chr17	42255678	42255678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggttgggaagccgctgcCggcagggtgccacccggctg	17	14	0	0	rs75035743	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:42255678C>T	ENST00000293414.1	+	5	1366	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	428	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGCCGCTGCCGGCAGGGTGC	0.677													C|||	2	0.000399361	0.0	0.0	5008	,	,		14825	0.0		0.002	False		,,,				2504	0.0					ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(1282-1284)Cgg>Tgg		ankyrin repeat and SOCS box containing 16		C	TRP/ARG,	2,4394		0,2,2196	22	22	22		1282,	5.4	1	17	dbSNP_131	22	14,8572		0,14,4279	no	missense,intron	ASB16,C17orf65	NM_080863.4,NM_178542.3	101,	0,16,6475	TT,TC,CC		0.1631,0.0455,0.1232	probably-damaging,	428/454,	42255678	16,12966	2198	4293	6491	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42255678C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1282C>T	17.37:g.42255678C>T	ENSP00000293414:p.Arg428Trp					ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	p.R428W	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1366	+		Breast(137;0.00765)|Prostate(33;0.0313)	428			SOCS box.		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.1282C>T	CCDS11478.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.53	3.150073	0.57151	4.55E-4	0.001631	ENSG00000161664	ENST00000293414	T	0.42513	0.97	5.36	5.36	0.76844	SOCS protein, C-terminal (3);	0.611234	0.16143	N	0.227657	T	0.52917	0.1764	L	0.38175	1.15	0.35488	D	0.798742	D	0.76494	0.999	P	0.60609	0.877	T	0.55724	-0.8096	10	0.37606	T	0.19	-22.8101	18.0318	0.89286	0.0:1.0:0.0:0.0	.	428	Q96NS5	ASB16_HUMAN	W	428	ENSP00000293414:R428W	ENSP00000293414:R428W	R	+	1	2	ASB16	39611204	0.973000	0.33851	0.988000	0.46212	0.637000	0.38172	2.655000	0.46707	2.793000	0.96121	0.561000	0.74099	CGG		0.677	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			7	131	0	0	0	0.038147	0	7	131					T	42255678	C	T	42255678	3	4	61	1	0	0	0	0	1	0	0	0	1021	643	23	1	1300	1	ASB16	17	42255678	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3642952	42255678	38939532	94	7428											
SDK2	54549	broad.mit.edu	37	chr17	71354323	71354323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgcacgatgatgggcaCgccaggcggtcctggggcac	16	13	0	1	rs146597384		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:71354323C>T	ENST00000392650.3	-	40	5488	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1830	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGATGGGCACGCCAGGCGGT	0.652																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5488-5490)Gtg>Atg		sidekick cell adhesion molecule 2		C	MET/VAL	0,4406		0,0,2203	128	118	121		5488	4.1	1	17	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK2	NM_001144952.1	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1830/2173	71354323	2,13004	2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71354323C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5488G>A	17.37:g.71354323C>T	ENSP00000376421:p.Val1830Met					SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M|SDK2_ENST00000410094.1_5'UTR	p.V1830M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			40	5488	-			1830			Fibronectin type-III 13.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5488G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987639	0.35036	0.0	2.33E-4	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.60797	0.16;0.16;0.16	5.12	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.299519	0.31734	N	0.007160	T	0.37598	0.1009	N	0.16266	0.395	0.32151	N	0.58424	P;P;B	0.43169	0.8;0.468;0.413	B;B;B	0.38056	0.258;0.264;0.172	T	0.51036	-0.8756	10	0.39692	T	0.17	.	10.6128	0.45432	0.0:0.8683:0.0:0.1317	.	1830;1830;1811	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	1454;1830;1811;987;1830;171	ENSP00000376421:V1830M;ENSP00000373378:V1811M;ENSP00000407098:V987M	ENSP00000324967:V1830M	V	-	1	0	SDK2	68865918	0.976000	0.34144	0.993000	0.49108	0.212000	0.24457	2.454000	0.44979	2.377000	0.81083	0.655000	0.94253	GTG		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		82	780	0	0	0	0.139131	0	82	780					T	71354323	C	T	71354323	3	4	61	1	0	0	0	0	1	0	0	0	14019	536	19	1	1054	1	SDK2	17	71354323	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	29098645	71354323	9840887	95	7429											
SEC14L1	6397	broad.mit.edu	37	chr17	75205427	75205427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtttcttcttccagtgcGaagtgccagagggtggactg	14	8	2	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:75205427G>A	ENST00000413679.2	+	14	1783	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	494	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCCAGTGCGAAGTGCCAGA	0.547																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1480-1482)Gaa>Aaa		SEC14-like 1 (S. cerevisiae)							69	60	63					17																	75205427		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205427G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1480G>A	17.37:g.75205427G>A	ENSP00000394716:p.Glu494Lys					SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K	p.E494K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1783	+			494			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1480G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798562	0.31777	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.045342	0.85682	D	0.000000	T	0.22704	0.0548	L	0.39397	1.21	0.58432	D	0.999999	B;B;B	0.20052	0.024;0.041;0.024	B;B;B	0.19148	0.011;0.024;0.011	T	0.07233	-1.0783	10	0.09843	T	0.71	-30.3326	18.3308	0.90268	0.0:0.0:1.0:0.0	.	494;494;494	A5PLM6;Q92503-2;Q92503	.;.;S14L1_HUMAN	K	494;494;494;494;494;460	ENSP00000376268:E494K;ENSP00000406030:E494K;ENSP00000390392:E494K;ENSP00000408169:E494K;ENSP00000394716:E494K;ENSP00000389838:E460K	ENSP00000376268:E494K	E	+	1	0	SEC14L1	72717022	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.375000	0.97178	2.553000	0.86117	0.655000	0.94253	GAA		0.547	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		6	171	0	0	0	0.02938	0	6	171					A	75205427	G	A	75205427	3	1	61	1	0	0	0	0	1	0	0	0	14031	1059	37	1	1526	1	SEC14L1	17	75205427	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	3851104	75205427	5989783	96	7430											
TNRC6C	57690	broad.mit.edu	37	chr17	76047044	76047044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggttggaatgacaccaCgagatctgggaacagtggct	14	8	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:76047044C>T	ENST00000588061.1	+	5	2628	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	TNRC6C_ENST00000335749.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	634	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGACACCACGAGATCTGGG	0.507																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1900-1902)aCg>aTg		trinucleotide repeat containing 6C							57	59	58					17																	76047044		1970	4154	6124	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047044C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1901C>T	17.37:g.76047044C>T	ENSP00000468647:p.Thr634Met					TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M	p.T634M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2470	+			634			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1901C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315457	0.05422	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14893	2.47;2.49;2.49;2.47	6.08	6.08	0.98989	.	0.938760	0.09181	N	0.837386	T	0.27063	0.0663	L	0.36672	1.1	0.09310	N	1	P;P;P	0.48834	0.914;0.914;0.916	P;P;B	0.47470	0.548;0.548;0.346	T	0.42068	-0.9473	10	0.52906	T	0.07	1.6426	20.6634	0.99662	0.0:1.0:0.0:0.0	.	634;634;634	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	M	634	ENSP00000336783:T634M;ENSP00000301624:T634M;ENSP00000440310:T634M;ENSP00000442421:T634M	ENSP00000301624:T634M	T	+	2	0	TNRC6C	73558639	0.170000	0.23016	0.015000	0.15790	0.020000	0.10135	4.468000	0.60162	2.894000	0.99253	0.655000	0.94253	ACG		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	270	0	0	0	0.047766	0	9	270					T	76047044	C	T	76047044	3	4	61	1	0	0	0	0	1	0	0	0	16394	536	19	1	1903	1	TNRC6C	17	76047044	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	841617	76047044	5148166	97	7431											
ADCYAP1	116	broad.mit.edu	37	chr18	909573	909573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagaaatacttggcggcCgtcctagggaagaggtataa	13	7	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:909573C>T	ENST00000579794.1	+	4	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A	ADCYAP1_ENST00000450565.3_Silent_p.A156A|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	156	Important for receptor binding.				activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTTGGCGGCCGTCCTAGGGA	0.527																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(466-468)gcC>gcT		adenylate cyclase activating polypeptide 1 (pituitary)							104	122	116					18																	909573		2203	4300	6503	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909573C>T	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.468C>T	18.37:g.909573C>T						ADCYAP1_ENST00000450565.3_Silent_p.A156A	p.A156A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			4	746	+			156			Important for receptor binding.		B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.468C>T	CCDS11825.1																																																																																				0.527	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		48	781	0	0	0	0.139131	0	48	781					T	909573	C	T	909573	2	4	61	1	0	0	0	0	0	0	0	1	302	639	23	1		1	ADCYAP1	18	909573	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		909573	77167675	98	7432											
RBBP8	5932	broad.mit.edu	37	chr18	20572961	20572961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcacacatcacagtcttGggtctgaagtgaacaagatc	8	9	4	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:20572961G>A	ENST00000399722.2	+	11	1522	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	391					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCACAGTCTTGGGTCTGAAGT	0.333								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1171-1173)Ggg>Agg	Homologous recombination	retinoblastoma binding protein 8							60	64	62					18																	20572961		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572961G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1171G>A	18.37:g.20572961G>A	ENSP00000382628:p.Gly391Arg					RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R	p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1522	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		391					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.1171G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209431	0.58343	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.50813	0.82;0.73;0.82;0.8;0.82	6.17	6.17	0.99709	.	0.353536	0.28515	N	0.015062	T	0.72503	0.3468	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.77004	0.989;0.9;0.989	T	0.72786	-0.4188	10	0.87932	D	0	-2.7777	20.8794	0.99867	0.0:0.0:1.0:0.0	.	391;391;391	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	R	391	ENSP00000323050:G391R;ENSP00000382630:G391R;ENSP00000382628:G391R;ENSP00000382627:G391R;ENSP00000354024:G391R	ENSP00000323050:G391R	G	+	1	0	RBBP8	18826959	1.000000	0.71417	0.779000	0.31741	0.295000	0.27426	6.761000	0.74945	2.941000	0.99782	0.655000	0.94253	GGG		0.333	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		107	725	0	0	0	0.139131	0	107	725					A	20572961	G	A	20572961	3	1	61	1	0	0	0	0	1	0	0	0	13155	1348	47	2	1209	2	RBBP8	18	20572961	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19663388	20572961	57504287	99	7433											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179	149	159					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		35	333	0	0	0	0.173368	0	35	333					T	48591918	C	T	48591918	3	4	61	1	0	0	0	0	1	0	0	0	14810	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	28018957	48591918	29485330	100	7434											
PCSK4	54760	broad.mit.edu	37	chr19	1487059	1487059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcgtgcccagcccgccGcggccctgggaaaccaggag	15	15	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:1487059G>A	ENST00000300954.5	-	8	922	c.861C>T	c.(859-861)cgC>cgT	p.R287R	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCAGCCCGCCGCGGCCCTGGG	0.697																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(859-861)cgC>cgT		proprotein convertase subtilisin/kexin type 4							28	29	29					19																	1487059		2199	4296	6495	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487059G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.861C>T	19.37:g.1487059G>A							p.R287R	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_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)	8	922	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	287			Catalytic (By similarity).			Silent	SNP	ENST00000300954.5	37	c.861C>T	CCDS12069.2																																																																																				0.697	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		19	226	0	0	0	0.062417	0	19	226					A	1487059	G	A	1487059	2	1	61	1	0	0	0	0	0	0	0	1	11644	1074	38	1		1	PCSK4	19	1487059	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		1487059	57641924	101	7435											
OR2Z1	284383	broad.mit.edu	37	chr19	8841411	8841411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggggatgtgaatcagtcGgtggcctcagacttcattct	13	8	4	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:8841411G>A	ENST00000324060.2	+	1	96	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATCAGTCGGTGGCCTCAG	0.507																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(19-21)tcG>tcA		olfactory receptor, family 2, subfamily Z, member 1							73	68	70					19																	8841411		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841411G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.21G>A	19.37:g.8841411G>A							p.S7S	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	96	+			7					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.21G>A	CCDS32895.1																																																																																				0.507	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			10	255	0	0	0	0.069234	0	10	255					A	8841411	G	A	8841411	2	1	61	1	0	0	0	0	0	0	0	1	11078	1103	39	1		1	OR2Z1	19	8841411	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	7354352	8841411	50287572	102	7436											
KANK2	25959	broad.mit.edu	37	chr19	11304177	11304177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttccgcagggcaccCgccatctgctcccgcacgtg	11	19	1	0	rs192902851		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:11304177C>T	ENST00000586659.1	-	4	893	c.579G>A	c.(577-579)gcG>gcA	p.A193A	KANK2_ENST00000355150.5_Silent_p.A193A|KANK2_ENST00000589359.1_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000432929.2_Silent_p.A193A			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	193					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGGGCACCCGCCATCTGCT	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16541	0.0		0.0	False		,,,				2504	0.0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(577-579)gcG>gcA		KN motif and ankyrin repeat domains 2							16	18	18					19																	11304177		2115	4124	6239	SO:0001819	synonymous_variant	25959							g.chr19:11304177C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.579G>A	19.37:g.11304177C>T						KANK2_ENST00000586659.1_Silent_p.A193A|KANK2_ENST00000355150.5_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000589359.1_Silent_p.A193A	p.A193A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	939	-			193					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.579G>A	CCDS12255.1																																																																																				0.677	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		11	233	0	0	0	0.069234	0	11	233					T	11304177	C	T	11304177	2	4	61	1	0	0	0	0	0	0	0	1	8007	639	23	1		1	KANK2	19	11304177	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2462766	11304177	47824806	103	7437											
ZNF799	90576	broad.mit.edu	37	chr19	12502559	12502559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtttctctccagtgtgcGttctctcatgcatatgtaat	8	9	3	0	rs374091845		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:12502559G>A	ENST00000430385.3	-	4	853	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.T186M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCCAGTGTGCGTTCTCTCATG	0.403																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(556-558)aCg>aTg		zinc finger protein 799		A	MET/THR	2,4402	4.2+/-10.8	0,2,2200	108	111	110		653	-1.6	0	19		110	0,8596		0,0,4298	no	missense	ZNF799	NM_001080821.2	81	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	218/644	12502559	2,12998	2202	4298	6500	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502559G>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.653C>T	19.37:g.12502559G>A	ENSP00000411084:p.Thr218Met					ZNF799_ENST00000430385.3_Missense_Mutation_p.T218M|CTD-3105H18.14_ENST00000435033.1_Intron	p.T186M			Q96GE5	ZN799_HUMAN			4	1306	-			218						Missense_Mutation	SNP	ENST00000430385.3	37	c.557C>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	g	9.020	0.984583	0.18889	4.54E-4	0.0	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.13089	2.62;2.62	1.1	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	M	0.77103	2.36	0.09310	N	1	P	0.44521	0.837	B	0.39738	0.308	T	0.11842	-1.0571	9	0.54805	T	0.06	.	3.2494	0.06808	0.1831:0.0:0.567:0.2499	.	218	Q96GE5	ZN799_HUMAN	M	186;218	ENSP00000415278:T186M;ENSP00000411084:T218M	ENSP00000415278:T186M	T	-	2	0	ZNF799	12363559	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	-0.947000	0.03901	-0.419000	0.07439	-1.051000	0.02340	ACG		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		94	682	0	0	0	0.139131	0	94	682					A	12502559	G	A	12502559	3	1	61	1	0	0	0	0	1	0	0	0	18219	1145	40	1	1282	1	ZNF799	19	12502559	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1198382	12502559	46626424	104	7438											
EMR2	30817	broad.mit.edu	37	chr19	14862377	14862377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgagtagttgaccaccGtcaggttccgtgcagtgagg	14	9	1	3	rs45563436		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:14862377G>A	ENST00000315576.3	-	16	2346	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000353005.1_Missense_Mutation_p.T490M	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	632					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTGACCACCGTCAGGTTCCG	0.557																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1894-1896)aCg>aTg		egf-like module containing, mucin-like, hormone receptor-like 2							133	114	121					19																	14862377		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14862377G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1895C>T	19.37:g.14862377G>A	ENSP00000319883:p.Thr632Met					EMR2_ENST00000353005.1_Missense_Mutation_p.T490M|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M	p.T632M	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			16	2346	-			632					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1895C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	4.918	0.170666	0.09391	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	4.34	-8.68	0.00859	GPCR, family 2-like (1);	.	.	.	.	T	0.11793	0.0287	N	0.02685	-0.53	0.09310	N	1	B;B;B;B;B;B;B;B	0.32604	0.025;0.055;0.105;0.377;0.049;0.06;0.055;0.049	B;B;B;B;B;B;B;B	0.36289	0.067;0.058;0.221;0.133;0.04;0.097;0.098;0.04	T	0.30357	-0.9981	9	0.33940	T	0.23	.	2.7383	0.05246	0.4838:0.0821:0.2029:0.2313	rs45563436	574;539;632;490;583;632;632;621	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	M	632;621;583;539;490;574	ENSP00000319883:T632M;ENSP00000376694:T621M;ENSP00000263380:T583M;ENSP00000319454:T539M;ENSP00000319838:T490M;ENSP00000376692:T574M	ENSP00000319883:T632M	T	-	2	0	EMR2	14723377	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.432000	0.02430	-2.429000	0.00558	-1.478000	0.00992	ACG		0.557	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			46	344	0	0	0	0.124865	0	46	344					A	14862377	G	A	14862377	3	1	61	1	0	0	0	0	1	0	0	0	5123	1145	40	1	600	1	EMR2	19	14862377	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	2359818	14862377	44266606	105	7439											
LRP3	4037	broad.mit.edu	37	chr19	33696374	33696374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcctgtggagcggcGctgtgacggcttgcaggact	16	12	0	1	rs372645682		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:33696374G>A	ENST00000253193.7	+	5	900	c.698G>A	c.(697-699)cGc>cAc	p.R233H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	233	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GTGGAGCGGCGCTGTGACGGC	0.756																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(697-699)cGc>cAc		low density lipoprotein receptor-related protein 3							6	8	7					19																	33696374		1995	3993	5988	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696374G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.698G>A	19.37:g.33696374G>A	ENSP00000253193:p.Arg233His						p.R233H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	900	+	Esophageal squamous(110;0.137)		233			LDL-receptor class A 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.698G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808604	0.70797	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	D	0.95918	-3.85	4.55	4.55	0.56014	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.065509	0.64402	D	0.000016	D	0.96688	0.8919	L	0.54323	1.7	0.51767	D	0.999933	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73380	0.98;0.928;0.971	D	0.96652	0.9482	10	0.46703	T	0.11	-36.2965	16.3046	0.82843	0.0:0.0:1.0:0.0	.	107;233;151	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	H	107;233	ENSP00000253193:R233H	ENSP00000253193:R233H	R	+	2	0	LRP3	38388214	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.748000	0.62148	2.100000	0.63781	0.462000	0.41574	CGC		0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			3	46	0	0	0	0.115264	0	3	46					A	33696374	G	A	33696374	3	1	61	1	0	0	0	0	1	0	0	0	8996	1087	38	1	716	1	LRP3	19	33696374	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	18833997	33696374	25432609	106	7440											
CAPN12	147968	broad.mit.edu	37	chr19	39227921	39227921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccccgcgctgggccccGtgcccctgcagccccccagc	11	25	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:39227921G>C	ENST00000328867.4	-	10	1545	c.1237C>G	c.(1237-1239)Cgg>Ggg	p.R413G	CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	413	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGGCCCCGTGCCCCTGCA	0.682																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1237-1239)Cgg>Ggg		calpain 12							7	7	7					19																	39227921		2003	3966	5969	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39227921G>C	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1237C>G	19.37:g.39227921G>C	ENSP00000331636:p.Arg413Gly					CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G	p.R413G	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1545	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		413			Domain III.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1237C>G	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	G	0.622	-0.820871	0.02755	.	.	ENSG00000182472	ENST00000328867	D	0.87491	-2.26	3.63	-7.25	0.01470	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	1.096470	0.07239	N	0.864013	T	0.69646	0.3134	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	P	0.45474	0.482	T	0.67833	-0.5568	10	0.72032	D	0.01	.	0.5316	0.00630	0.2627:0.2117:0.3088:0.2169	.	413	Q6ZSI9	CAN12_HUMAN	G	413	ENSP00000331636:R413G	ENSP00000331636:R413G	R	-	1	2	CAPN12	43919761	0.004000	0.15560	0.000000	0.03702	0.020000	0.10135	-0.151000	0.10175	-2.733000	0.00383	-1.164000	0.01763	CGG		0.682	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			4	12	0	0	0	0.02938	0	4	12					C	39227921	G	C	39227921	3	2	61	1	0	0	0	0	1	0	0	0	2632	1144	40	5	970	5	CAPN12	19	39227921	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	5531547	39227921	19901062	107	7441											
SHKBP1	92799	broad.mit.edu	37	chr19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagaagttccccttgcGcatgaaagacaacgacctcc	9	13	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:41089528G>A	ENST00000291842.5	+	12	1119	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1069-1071)cGc>cAc		SH3KBP1 binding protein 1							141	119	127					19																	41089528		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41089528G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1070G>A	19.37:g.41089528G>A	ENSP00000291842:p.Arg357His					SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	p.R357H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1119	+			357					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1070G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877395	0.91664	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.69561	-0.41	5.57	3.43	0.39272	WD40 repeat-like-containing domain (1);	0.055489	0.64402	N	0.000001	T	0.82254	0.4997	M	0.86573	2.825	0.80722	D	1	D;D;B;B;D;B	0.89917	1.0;1.0;0.022;0.054;1.0;0.032	D;D;B;B;D;B	0.97110	1.0;1.0;0.011;0.017;0.996;0.007	D	0.83850	0.0262	10	0.87932	D	0	-14.3256	11.5145	0.50513	0.1493:0.0:0.8507:0.0	.	235;194;280;194;357;357	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	H	357;194	ENSP00000291842:R357H	ENSP00000291842:R357H	R	+	2	0	SHKBP1	45781368	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	9.216000	0.95154	0.723000	0.32274	0.555000	0.69702	CGC		0.622	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		54	615	0	0	0	0.139131	0	54	615					A	41089528	G	A	41089528	3	1	61	1	0	0	0	0	1	0	0	0	14334	1087	38	1	1116	1	SHKBP1	19	41089528	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1861607	41089528	18039455	108	7442											
VSTM1	284415	broad.mit.edu	37	chr19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctgcctcagacagggCgctggtgcttagctcagcat	13	11	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(637-639)Gcc>Acc		V-set and transmembrane domain containing 1							54	50	51					19																	54544289		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544289C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.637G>A	19.37:g.54544289C>T	ENSP00000343366:p.Ala213Thr					VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T	p.A213T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	812	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		213					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.637G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215136	0.09810	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.53640	1.95;6.86;5.64;0.61	2.67	0.505	0.16953	.	.	.	.	.	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	P;P	0.42871	0.572;0.792	B;B	0.22880	0.042;0.023	T	0.11991	-1.0565	9	0.20046	T	0.44	.	4.9295	0.13910	0.0:0.7045:0.0:0.2955	.	182;213	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	103;213;182;125	ENSP00000409412:A103T;ENSP00000343366:A213T;ENSP00000365813:A182T;ENSP00000444153:A125T	ENSP00000343366:A213T	A	-	1	0	VSTM1	59236101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.595000	0.05727	0.222000	0.20900	0.585000	0.79938	GCC		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		6	190	0	0	0	0.021553	0	6	190					T	54544289	C	T	54544289	3	4	61	1	0	0	0	0	1	0	0	0	17282	768	27	1	77	1	VSTM1	19	54544289	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	13454761	54544289	4584694	109	7443											
LILRB1	10859	broad.mit.edu	37	chr19	55147979	55147979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacccccaggcagtgaCgtatgccgaggtgaaacact	12	11	0	4	rs375960208		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:55147979C>T	ENST00000396331.1	+	15	2039	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	561					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCAGTGACGTATGCCGAG	0.567										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1681-1683)aCg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4403	2.1+/-5.4	0,1,2201	67	65	66		1688,1685,1685,1682	-2.8	0	19		66	0,8592		0,0,4296	no	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	81,81,81,81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	563/653,562/652,562/652,561/651	55147979	1,12995	2202	4296	6498	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147979C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1682C>T	19.37:g.55147979C>T	ENSP00000379622:p.Thr561Met	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M	p.T561M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2039	+			561					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1682C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	6.061	0.379572	0.11466	2.27E-4	0.0	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00524	6.9;6.97;6.9;6.89;6.93;6.9;6.91;6.82;6.97;6.93	1.41	-2.82	0.05787	.	.	.	.	.	T	0.01061	0.0035	M	0.67569	2.06	0.09310	N	1	P;D;D;D;D	0.89917	0.897;1.0;0.999;1.0;1.0	B;D;P;D;D	0.91635	0.229;0.999;0.818;0.973;0.982	T	0.37619	-0.9698	9	0.72032	D	0.01	.	3.5514	0.07848	0.0:0.3464:0.2071:0.4465	.	545;563;562;562;561	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	561;545;561;562;563;561;562;612;545;563	ENSP00000379614:T561M;ENSP00000391514:T545M;ENSP00000379622:T561M;ENSP00000379618:T562M;ENSP00000315997:T563M;ENSP00000405243:T561M;ENSP00000379623:T562M;ENSP00000395004:T612M;ENSP00000379610:T545M;ENSP00000379608:T563M	ENSP00000315997:T563M	T	+	2	0	LILRB1	59839791	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.135000	0.01306	-1.382000	0.02109	0.194000	0.17425	ACG		0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	319	0	0	0	0.02938	0	7	319					T	55147979	C	T	55147979	3	4	61	1	0	0	0	0	1	0	0	0	8822	536	19	1	1738	1	LILRB1	19	55147979	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	603690	55147979	3981004	110	7444											
ACSS1	84532	broad.mit.edu	37	chr20	24993297	24993297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctggtactgcagggtggtCggcctgtgtacaacagagaa	14	8	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:24993297C>T	ENST00000323482.4	-	12	1790	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.D488N	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	571					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGGGTGGTCGGCCTGTGTA	0.577																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1462-1464)Gac>Aac		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						161	159	160					20																	24993297		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993297C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1711G>A	20.37:g.24993297C>T	ENSP00000316924:p.Asp571Asn					ACSS1_ENST00000323482.4_Missense_Mutation_p.D571N|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000432802.2_Intron	p.D488N			Q9NUB1	ACS2L_HUMAN			10	2993	-			571		V -> M (in dbSNP:rs6050249).			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1462G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	4.698	0.129783	0.08981	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.56611	0.45;0.45;0.45	4.99	-0.479	0.12089	AMP-dependent synthetase/ligase (1);	0.657282	0.16258	N	0.222378	T	0.29355	0.0731	N	0.05487	-0.04	0.32980	D	0.52345	B;B;B;B	0.14012	0.009;0.002;0.002;0.004	B;B;B;B	0.13407	0.008;0.005;0.009;0.007	T	0.23868	-1.0176	10	0.62326	D	0.03	-46.939	9.8175	0.40862	0.0:0.5814:0.0:0.4186	.	366;569;571;488	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	N	571;366;488;450	ENSP00000316924:D571N;ENSP00000439304:D488N;ENSP00000437657:D450N	ENSP00000316924:D571N	D	-	1	0	ACSS1	24941297	0.009000	0.17119	0.897000	0.35233	0.145000	0.21501	-0.125000	0.10579	0.077000	0.16863	-0.367000	0.07326	GAC		0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		22	664	0	0	0	0.076483	0	22	664					T	24993297	C	T	24993297	3	4	61	1	0	0	0	0	1	0	0	0	188	884	31	1	370	1	ACSS1	20	24993297	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		24993297	38032223	111	7445											
PYGB	5834	broad.mit.edu	37	chr20	25259058	25259058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccaagttcggctgccGggaccctgtgagaacctgtt	13	12	0	1	rs369254260		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:25259058G>A	ENST00000216962.4	+	8	1069	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	320					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TTCGGCTGCCGGGACCCTGTG	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(958-960)cGg>cAg		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	G	GLN/ARG	0,4406		0,0,2203	85	79	81		959	3.6	1	20		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	320/844	25259058	1,13005	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259058G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.959G>A	20.37:g.25259058G>A	ENSP00000216962:p.Arg320Gln						p.R320Q	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			8	1069	+			320					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.959G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485682	0.63962	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.93189	-3.18	3.61	3.61	0.41365	.	0.057691	0.64402	D	0.000002	D	0.92469	0.7609	M	0.73962	2.25	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.91653	0.5336	10	0.62326	D	0.03	-35.0412	15.4242	0.75038	0.0:0.0:1.0:0.0	.	320	P11216	PYGB_HUMAN	Q	320	ENSP00000216962:R320Q	ENSP00000216962:R320Q	R	+	2	0	PYGB	25207058	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.075000	0.64407	2.027000	0.59764	0.462000	0.41574	CGG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		9	359	0	0	0	0.047766	0	9	359					A	25259058	G	A	25259058	3	1	61	1	0	0	0	0	1	0	0	0	12910	1116	39	1	989	1	PYGB	20	25259058	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	265761	25259058	37766462	112	7446											
DLGAP4	22839	broad.mit.edu	37	chr20	35060245	35060245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacggaggccttcgcccGcgaggcccgcttccccgggc	14	20	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:35060245G>A	ENST00000373907.2	+	2	324	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DLGAP4_ENST00000373913.3_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCTTCGCCCGCGAGGCCCGC	0.697																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(124-126)cGc>cAc		discs, large (Drosophila) homolog-associated protein 4							36	39	38					20																	35060245		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060245G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.125G>A	20.37:g.35060245G>A	ENSP00000363014:p.Arg42His					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R42H	p.R42H			Q9Y2H0	DLGP4_HUMAN			3	605	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	42					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.125G>A		.	.	.	.	.	.	.	.	.	.	G	8.687	0.906574	0.17833	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.67	4.73	0.59995	.	0.507297	0.22560	N	0.058475	T	0.31734	0.0806	L	0.44542	1.39	0.22266	N	0.99925	B	0.27971	0.196	B	0.17722	0.019	T	0.16247	-1.0409	10	0.15066	T	0.55	.	5.2335	0.15434	0.0776:0.1326:0.6355:0.1543	.	42	Q9Y2H0-1	.	H	42	ENSP00000363023:R42H;ENSP00000384954:R42H;ENSP00000363014:R42H;ENSP00000341633:R42H	ENSP00000341633:R42H	R	+	2	0	DLGAP4	34493659	0.743000	0.28239	0.642000	0.29436	0.421000	0.31385	1.615000	0.36922	1.418000	0.47098	-0.215000	0.12644	CGC		0.697	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		52	330	0	0	0	0.139131	0	52	330					A	35060245	G	A	35060245	3	1	61	1	0	0	0	0	1	0	0	0	4578	1087	38	1	127	1	DLGAP4	20	35060245	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	9801187	35060245	27965275	113	7447											
ADAMTS5	11096	broad.mit.edu	37	chr21	28337977	28337977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctgagcccccagcgggcGagagagcggactggtccaag	16	13	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:28337977G>A	ENST00000284987.5	-	1	855	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	245					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCAGCGGGCGAGAGAGCGGA	0.741																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(733-735)tCg>tTg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							7	9	8					21																	28337977		2171	4222	6393	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28337977G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.734C>T	21.37:g.28337977G>A	ENSP00000284987:p.Ser245Leu						p.S245L	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	855	-			245					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.734C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.656	0.305616	0.10678	.	.	ENSG00000154736	ENST00000284987	T	0.63417	-0.04	3.55	3.55	0.40652	.	0.833438	0.10427	N	0.675986	T	0.41373	0.1156	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.18561	0.022	T	0.07501	-1.0769	10	0.16420	T	0.52	.	13.4492	0.61161	0.0:0.0:1.0:0.0	.	245	Q9UNA0	ATS5_HUMAN	L	245	ENSP00000284987:S245L	ENSP00000284987:S245L	S	-	2	0	ADAMTS5	27259848	0.998000	0.40836	0.008000	0.14137	0.058000	0.15608	3.406000	0.52637	2.268000	0.75426	0.561000	0.74099	TCG		0.741	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	43	0	0	0	0.038147	0	7	43					A	28337977	G	A	28337977	3	1	61	1	0	0	0	0	1	0	0	0	269	1059	37	1	2090	1	ADAMTS5	21	28337977	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		28337977	19791918	114	7448											
CCT8	10694	broad.mit.edu	37	chr21	30435800	30435800	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatccatgaggttttcttCtcccttactaaaattcatca	4	11	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:30435800C>T	ENST00000286788.4	-	8	1020	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CCT8_ENST00000540844.1_Missense_Mutation_p.E199K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.E253K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	272					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTTTTCTTCTCCCTTACTA	0.398																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(814-816)Gaa>Aaa		chaperonin containing TCP1, subunit 8 (theta)							119	115	116					21																	30435800		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30435800C>T	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.814G>A	21.37:g.30435800C>T	ENSP00000286788:p.Glu272Lys					CCT8_ENST00000542732.1_Missense_Mutation_p.E253K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.E199K	p.E272K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			8	1020	-			272					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.814G>A	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441208	0.96187	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.77229	-1.08;-1.08;-1.08	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91369	0.7277	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.975;0.993;0.989;0.999	D	0.92797	0.6253	10	0.87932	D	0	-26.8816	19.7634	0.96333	0.0:1.0:0.0:0.0	.	199;253;272;271;272	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	K	271;272;253;199	ENSP00000286788:E272K;ENSP00000444984:E253K;ENSP00000442730:E199K	ENSP00000286788:E272K	E	-	1	0	CCT8	29357671	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.368000	0.79567	2.747000	0.94245	0.460000	0.39030	GAA		0.398	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			6	428	0	0	0	0.021553	0	6	428					T	30435800	C	T	30435800	3	4	61	1	0	0	0	0	1	0	0	0	2969	922	32	2	864	2	CCT8	21	30435800	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2097823	30435800	17694095	115	7449											
ITSN1	6453	broad.mit.edu	37	chr21	35147045	35147046	+	Frame_Shift_Ins	INS	-	-	A													gtcacaggctgcaaaacgggINSaacttgaaaggcaacgacaa							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:35147045_35147046insA	ENST00000381318.3	+	13	1606_1607	c.1318_1319insA	c.(1318-1320)gaafs	p.E440fs	ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.E440fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.E403fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.E440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.E440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	440	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAAAACGGGAACTTGAAAGG	0.376																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1318-1320)actfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35147045_35147046insA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1320dupA	21.37:g.35147047_35147047dupA	ENSP00000370719:p.Glu440fs					AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.T403fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.T440fs	p.T440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			13	1606_1607	+			440			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.1318_1319insA	CCDS33545.1																																																																																				0.376	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		12	216						12	216	---	---	---	---	A	35147046	-	A	35147045	7	5	61	1	0	1	1	0	0	0	0	0	7956	1175	41	0	1364	0	ITSN1	21	35147045	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	4711245	35147045	12982850	116	7450											
PRDM15	63977	broad.mit.edu	37	chr21	43256271	43256271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttaggctctctttgCggctgaacaattttgcacac	9	11	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:43256271C>T	ENST00000269844.3	-	17	2437	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	PRDM15_ENST00000422911.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	776					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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTCTCTTTGCGGCTGAACAA	0.493																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1339-1341)cGc>cAc		PR domain containing 15							263	198	220					21																	43256271		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43256271C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2327G>A	21.37:g.43256271C>T	ENSP00000269844:p.Arg776His					PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R776H	p.R447H			P57071	PRD15_HUMAN			10	1441	-			776			SET.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1340G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	33	5.222290	0.95139	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;1.57	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85225	0.5648	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.85463	0.1168	9	0.45353	T	0.12	-28.2378	16.557	0.84487	0.0:1.0:0.0:0.0	.	776;447;447	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	447;447;410;410;776;410	ENSP00000408592:R447H;ENSP00000381556:R447H;ENSP00000444044:R410H;ENSP00000390245:R410H;ENSP00000269844:R776H	ENSP00000269844:R776H	R	-	2	0	PRDM15	42129340	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.554000	0.82212	2.139000	0.66308	0.651000	0.88453	CGC		0.493	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		5	222	0	0	0	0.014758	0	5	222					T	43256271	C	T	43256271	3	4	61	1	0	0	0	0	1	0	0	0	12503	768	27	1	2256	1	PRDM15	21	43256271	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	8109226	43256271	4873624	117	7451											
C21orf2	755	broad.mit.edu	37	chr21	45753013	45753013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggttctcggccagccaCagcacccgcagacgcggcag	13	17	1	1	rs374507502		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:45753013C>T	ENST00000339818.4	-	4	483	c.276G>A	c.(274-276)ctG>ctA	p.L92L	AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Silent_p.L92L|C21orf2_ENST00000325223.7_Silent_p.L92L|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CGGCCAGCCACAGCACCCGCA	0.687																																						ENST00000339818.4																			0				endometrium(2)	2						c.(274-276)ctG>ctA		chromosome 21 open reading frame 2		C		0,4380		0,0,2190	15	17	16		276	-3.2	0.9	21		16	1,8529		0,1,4264	no	coding-synonymous	C21orf2	NM_004928.2		0,1,6454	TT,TC,CC		0.0117,0.0,0.0077		92/257	45753013	1,12909	2190	4265	6455	SO:0001819	synonymous_variant	755							g.chr21:45753013C>T	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.276G>A	21.37:g.45753013C>T						C21orf2_ENST00000325223.7_Silent_p.L92L|C21orf2_ENST00000397956.3_Silent_p.L92L|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR	p.L92L	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	483	-			92					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Silent	SNP	ENST00000339818.4	37	c.276G>A	CCDS13709.1																																																																																				0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		12	107	0	0	0	0.105934	0	12	107					T	45753013	C	T	45753013	2	4	61	1	0	0	0	0	0	0	0	1	2130	465	17	2		2	C21orf2	21	45753013	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2496742	45753013	2376882	118	7452											
COL6A2	1292	broad.mit.edu	37	chr21	47532319	47532319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggccgagcgggcccGcgaggagggcatccggctct	18	14	1	0	rs371640468		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:47532319G>A	ENST00000300527.4	+	3	646	c.542G>A	c.(541-543)cGc>cAc	p.R181H	COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	181	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCGGGCCCGCGAGGAGGGC	0.711																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(541-543)cGc>cAc		collagen, type VI, alpha 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4332		0,0,2166	11	17	15		542,542,542	4.3	1	21		15	2,8504		0,2,4251	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	29,29,29	0,2,6417	AA,AG,GG		0.0235,0.0,0.0156	probably-damaging,probably-damaging,probably-damaging	181/1020,181/919,181/829	47532319	2,12836	2166	4253	6419	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532319G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.542G>A	21.37:g.47532319G>A	ENSP00000300527:p.Arg181His					COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H	p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	646	+	Breast(49;0.245)		181			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.542G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948589	0.73787	0.0	2.35E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	4.34	4.34	0.51931	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	L	0.54323	1.7	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	D	0.88464	0.3057	10	0.56958	D	0.05	-18.7979	17.2361	0.86999	0.0:0.0:1.0:0.0	.	181;181;181	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	181	ENSP00000300527:R181H;ENSP00000350497:R181H;ENSP00000312529:R181H;ENSP00000387115:R181H;ENSP00000380870:R181H	ENSP00000300527:R181H	R	+	2	0	COL6A2	46356747	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	6.374000	0.73132	2.142000	0.66516	0.467000	0.42956	CGC		0.711	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			7	142	0	0	0	0.02938	0	7	142					A	47532319	G	A	47532319	3	1	61	1	0	0	0	0	1	0	0	0	3709	1087	38	1	548	1	COL6A2	21	47532319	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1779306	47532319	597576	119	7453											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctttcacacgctctcGtggatctggaaggacgtggg	12	10	5	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(304-306)Cga>Tga		eukaryotic translation initiation factor 4E nuclear import factor 1							56	57	56					22																	31859948		2203	4300	6503	SO:0001587	stop_gained	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859948G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.304C>T	22.37:g.31859948G>A	ENSP00000380659:p.Arg102*					EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	p.R102*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			5	527	-			102					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	c.304C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2781	11.1724	0.48579	0.0:0.0:0.6601:0.3399	.	.	.	.	X	102	.	ENSP00000328103:R102X	R	-	1	2	EIF4ENIF1	30189948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.528000	0.53524	2.792000	0.96026	0.557000	0.71058	CGA		0.502	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		14	310	0	0	0	0.105934	0	14	310					A	31859948	G	A	31859948	4	1	61	1	0	0	0	0	0	1	0	0	5053	1153	40	1	2716	1	EIF4ENIF1	22	31859948	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31859948	19444618	120	7454											
BEND2	139105	broad.mit.edu	37	chrX	18189251	18189251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctagccgacaggcttgcGcaagacttagtttttgccaa	9	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:18189251G>A	ENST00000380033.4	-	13	2187	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_ENST00000380030.3_Silent_p.C594C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.C685C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAGGCTTGCGCAAGACTTAG	0.428																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.C685C(1)	NS(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2053-2055)tgC>tgT		BEN domain containing 2							151	130	137					X																	18189251		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18189251G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2055C>T	X.37:g.18189251G>A						BEND2_ENST00000380030.3_Silent_p.C594C	p.C685C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			13	2187	-			685			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.2055C>T	CCDS14184.1																																																																																				0.428	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		33	304	0	0	0	0.144211	0	33	304					A	18189251	G	A	18189251	2	1	61	1	0	0	0	0	0	0	0	1	1399	1079	38	1		1	BEND2	23	18189251	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		18189251	137081309	121	7455											
LAS1L	81887	broad.mit.edu	37	chrX	64738237	64738237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgggggaggcctcagaGccctcctgcaccaggctgtt	13	14	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:64738237G>A	ENST00000374811.3	-	12	1597	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.G502G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	519					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGCCTCAGAGCCCTCCTGCA	0.582																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1555-1557)ggC>ggT		LAS1-like (S. cerevisiae)							66	63	64					X																	64738237		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64738237G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1557C>T	X.37:g.64738237G>A						LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000374807.5_Silent_p.G502G|LAS1L_ENST00000312391.8_3'UTR	p.G519G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			12	1597	-			519					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.1557C>T	CCDS14381.1																																																																																				0.582	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		20	278	0	0	0	0.055883	0	20	278					A	64738237	G	A	64738237	2	1	61	1	0	0	0	0	0	0	0	1	8667	958	34	2		2	LAS1L	23	64738237	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	46548986	64738237	90532323	122	7456											
SEPT6	23157	broad.mit.edu	37	chrX	118763358	118763358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggagcagctcagccgcCgtctttctttgcttgaaagc	11	12	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:118763358C>T	ENST00000343984.5	-	9	1467	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000489216.1_Silent_p.T401T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394610.1_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	401					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCAGCCGCCGTCTTTCTTT	0.507			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(1201-1203)acG>acA		septin 6							131	127	128					X																	118763358		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118763358C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1203G>A	X.37:g.118763358C>T						SEPT6_ENST00000343984.5_Silent_p.T401T|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000489216.1_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T	p.T401T	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			9	1467	-			401					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.1203G>A	CCDS14584.1																																																																																				0.507	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		8	551	0	0	0	0.038147	0	8	551					T	118763358	C	T	118763358	2	4	61	1	0	0	0	0	0	0	0	1	14118	639	23	1		1	SEPT6	23	118763358	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	54025121	118763358	36507202	123	7457											
CR2	1380	broad.mit.edu	37	chr1	207643052	207643052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctagaaattttttgccCatcacctccccctattctca	2	17	2	1	rs201791442		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:207643052C>T	ENST00000367058.3	+	6	1019	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Missense_Mutation_p.P277L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	277	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTTTGCCCATCACCTCCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20515	0.0		0.001	False		,,,				2504	0.0					ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(829-831)cCa>cTa		complement component (3d/Epstein Barr virus) receptor 2		C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	84	81	82		830,830	3.2	0.9	1	dbSNP_132	82	0,8600		0,0,4300	no	missense,missense	CR2	NM_001006658.2,NM_001877.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	277/1093,277/1034	207643052	1,13005	2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643052C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.830C>T	1.37:g.207643052C>T	ENSP00000356025:p.Pro277Leu					CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000367058.3_Missense_Mutation_p.P277L	p.P277L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1019	+			277			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.830C>T	CCDS1478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.87	2.066612	0.36470	2.27E-4	0.0	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.05	3.16	0.36331	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67069	0.2854	M	0.70275	2.135	0.37122	D	0.900841	B;B;B	0.28783	0.222;0.211;0.124	B;B;B	0.38803	0.261;0.282;0.149	T	0.67581	-0.5634	9	0.45353	T	0.12	.	7.6844	0.28532	0.0:0.7446:0.1652:0.0902	.	277;277;277	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	277	ENSP00000356025:P277L;ENSP00000356024:P277L;ENSP00000356026:P277L;ENSP00000404222:P277L	ENSP00000356024:P277L	P	+	2	0	CR2	205709675	0.000000	0.05858	0.906000	0.35671	0.635000	0.38103	0.040000	0.13905	0.796000	0.33947	0.556000	0.70494	CCA		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		87	455	0	0	0	0.870114	0	87	455					T	207643052	C	T	207643052	3	4	62	1	0	0	0	0	1	0	0	0	3851	594	21	2	852	2	CR2	1	207643052	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		207643052	41607569	1	7458											
PPP2R5A	5525	broad.mit.edu	37	chr1	212459533	212459533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacggcttcacccggaaAtcggtccgcaaggcgcagag	15	12	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:212459533A>G	ENST00000261461.2	+	1	655	c.81A>G	c.(79-81)aaA>aaG	p.K27K		NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	27					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCACCCGGAAATCGGTCCGCA	0.701																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(79-81)aaA>aaG		protein phosphatase 2, regulatory subunit B', alpha							13	13	13					1																	212459533		2187	4288	6475	SO:0001819	synonymous_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212459533A>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.81A>G	1.37:g.212459533A>G							p.K27K	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	1	655	+			27					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Silent	SNP	ENST00000261461.2	37	c.81A>G	CCDS1503.1																																																																																				0.701	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	80	0	0	0	0.870114	0	48	80					G	212459533	A	G	212459533	2	3	62	1	0	0	0	0	0	0	0	1	12439	98	4	4		4	PPP2R5A	1	212459533	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	4816481	212459533	36791088	2	7459											
PXDN	7837	broad.mit.edu	37	chr2	1668825	1668825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacgactctgtcctgaggcGtcacagtgaactgaggaaga	12	9	2	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:1668825G>A	ENST00000252804.4	-	11	1363	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	438	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTCCTGAGGCGTCACAGTGAA	0.532																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1312-1314)aCg>aTg		peroxidasin homolog (Drosophila)							44	46	45					2																	1668825		1936	4145	6081	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1668825G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1313C>T	2.37:g.1668825G>A	ENSP00000252804:p.Thr438Met						p.T438M	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	11	1363	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	438			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1313C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.879|9.879	1.201071|1.201071	0.22121|0.22121	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.67865	.|-0.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.360555	.|0.30177	.|N	.|0.010231	T|T	0.58278|0.58278	0.2111|0.2111	L|L	0.54323|0.54323	1.7|1.7	0.40173|0.40173	D|D	0.977201|0.977201	.|P;P	.|0.40681	.|0.727;0.64	.|B;B	.|0.33254	.|0.091;0.16	T|T	0.63844|0.63844	-0.6545|-0.6545	5|10	.|0.46703	.|T	.|0.11	-31.2675|-31.2675	12.7932|12.7932	0.57545|0.57545	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|438;438	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	C|M	434|438	.|ENSP00000252804:T438M	.|ENSP00000252804:T438M	R|T	-|-	1|2	0|0	PXDN|PXDN	1647832|1647832	0.995000|0.995000	0.38212|0.38212	0.915000|0.915000	0.36163|0.36163	0.106000|0.106000	0.19336|0.19336	2.285000|2.285000	0.43487|0.43487	2.604000|2.604000	0.88044|0.88044	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	69	0	0	0	0.608945	0	22	69					A	1668825	G	A	1668825	3	1	62	1	0	0	0	0	1	0	0	0	12897	1145	40	1	3178	1	PXDN	2	1668825	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		1668825	241530548	3	7460											
C2orf71	388939	broad.mit.edu	37	chr2	29295775	29295775	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcacatggggtgcttgtCcccagcttcaaaggtgggga	14	9	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:29295775C>T	ENST00000331664.5	-	1	1352	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	451					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGCTTGTCCCCAGCTTCA	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1351-1353)ggG>ggA		chromosome 2 open reading frame 71							87	92	90					2																	29295775		1969	4154	6123	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295775C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1353G>A	2.37:g.29295775C>T							p.G451G	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1352	-			451						Silent	SNP	ENST00000331664.5	37	c.1353G>A	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		127	389	0	0	0	0.870114	0	127	389					T	29295775	C	T	29295775	2	4	62	1	0	0	0	0	0	0	0	1	2198	842	30	2		2	C2orf71	2	29295775	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	27626950	29295775	213903598	4	7461											
XIRP2	129446	broad.mit.edu	37	chr2	168099977	168099977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggggatgtcaagactgTgagatacatgtttgaaactc	14	5	1	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:168099977T>C	ENST00000409195.1	+	9	2164	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	517					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)				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						GTCAAGACTGTGAGATACATG	0.403																																						ENST00000409195.1																			0				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						c.(2074-2076)gTg>gCg		xin actin-binding repeat containing 2							83	79	80					2																	168099977		1932	4139	6071	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099977T>C	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.2075T>C	2.37:g.168099977T>C	ENSP00000386840:p.Val692Ala					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000420519.1_Intron	p.V692A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2164	+			517					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2075T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456474	0.43634	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02395	4.31;4.31;4.32	5.93	5.93	0.95920	.	0.122271	0.56097	D	0.000038	T	0.01870	0.0059	N	0.25890	0.77	0.27210	N	0.959937	P;P;P	0.37731	0.473;0.607;0.607	B;B;B	0.32465	0.069;0.146;0.146	T	0.33085	-0.9882	10	0.02654	T	1	-9.9513	8.5794	0.33619	0.128:0.0:0.1337:0.7383	.	517;517;470	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	692;692;470	ENSP00000386840:V692A;ENSP00000295237:V692A;ENSP00000387255:V470A	ENSP00000295237:V692A	V	+	2	0	XIRP2	167808223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.948000	0.49066	2.271000	0.75665	0.533000	0.62120	GTG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		70	250	0	0	0	0.870114	0	70	250					C	168099977	T	C	168099977	3	2	62	1	0	0	0	0	1	0	0	0	17484	1696	59	4	2105	4	XIRP2	2	168099977	Missense_Mutation	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	138804202	168099977	75099396	5	7462											
NFE2L2	4780	broad.mit.edu	37	chr2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacttactccaagatctAtatcttgcctccaaagtatg	5	12	2	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		1	Substitution - Missense(1)	p.I28T(1)	lung(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(82-84)aTa>aCa		nuclear factor, erythroid 2-like 2							64	57	59					2																	178098962		1844	4100	5944	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098962A>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.83T>C	2.37:g.178098962A>G	ENSP00000380252:p.Ile28Thr	HNSCC(56;0.16)				NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	p.I28T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	637	-			28					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.83T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.744913	0.69418	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	.	0.042355	0.85682	D	0.000000	T	0.61961	0.2389	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.922;0.991;0.964;0.922	T	0.69254	-0.5193	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	12;12;12;28	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	T	12;28;12;12;12;12;12	ENSP00000380253:I12T;ENSP00000380252:I28T;ENSP00000411575:I12T;ENSP00000391590:I12T;ENSP00000400073:I12T;ENSP00000412191:I12T;ENSP00000410015:I12T	ENSP00000380252:I28T	I	-	2	0	NFE2L2	177807208	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	ATA		0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		62	207	0	0	0	0.870114	0	62	207					G	178098962	A	G	178098962	3	3	62	1	0	0	0	0	1	0	0	0	10410	449	16	4	1750	4	NFE2L2	2	178098962	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	9998985	178098962	65100411	6	7463											
ZDBF2	57683	broad.mit.edu	37	chr2	207172204	207172204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcttcaaagagaaaaGcacgctgaattccaaggtag	10	8	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207172204G>A	ENST00000374423.3	+	5	3338	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	984							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAGAAAAGCACGCTGAAT	0.398																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2950-2952)aaG>aaA		zinc finger, DBF-type containing 2							76	75	75					2																	207172204		1877	4108	5985	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207172204G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2952G>A	2.37:g.207172204G>A							p.K984K	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3338	+			984					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.2952G>A	CCDS46501.1																																																																																				0.398	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		77	254	0	0	0	0.870114	0	77	254					A	207172204	G	A	207172204	2	1	62	1	0	0	0	0	0	0	0	1	17652	962	34	2		2	ZDBF2	2	207172204	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	29073242	207172204	36027169	7	7464											
DYTN	391475	broad.mit.edu	37	chr2	207572064	207572064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggctcagagtgagttcCggagctctgggatgcacttg	15	8	2	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207572064C>T	ENST00000452335.2	-	3	374	c.258G>A	c.(256-258)ccG>ccA	p.P86P	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	86						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P86P(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGTGAGTTCCGGAGCTCTGG	0.522																																						ENST00000452335.2																			2	Substitution - coding silent(2)	p.P86P(2)	breast(2)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(256-258)ccG>ccA		dystrotelin							72	73	72					2																	207572064		1993	4160	6153	SO:0001819	synonymous_variant	391475					plasma membrane	zinc ion binding	g.chr2:207572064C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.258G>A	2.37:g.207572064C>T							p.P86P	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	3	374	-			86						Silent	SNP	ENST00000452335.2	37	c.258G>A	CCDS46502.1																																																																																				0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			13	64	0	0	0	0.435327	0	13	64					T	207572064	C	T	207572064	2	4	62	1	0	0	0	0	0	0	0	1	4877	639	23	1		1	DYTN	2	207572064	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	399860	207572064	35627309	8	7465											
KBTBD5	131377	broad.mit.edu	37	chr3	42728164	42728164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtccccaagaaccacGtcagcctggttaccaaggag	10	14	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:42728164G>A	ENST00000287777.4	+	1	1154	c.1054G>A	c.(1054-1056)Gtc>Atc	p.V352I		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	352					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CAAGAACCACGTCAGCCTGGT	0.557																																						ENST00000287777.4																			0											c.(1054-1056)Gtc>Atc		kelch-like family member 40							75	65	68					3																	42728164		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728164G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1054G>A	3.37:g.42728164G>A	ENSP00000287777:p.Val352Ile						p.V352I	NM_152393.2	NP_689606.2					1	1154	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1054G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	12.64	2.000007	0.35320	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.66815	-0.23	4.95	4.95	0.65309	Kelch-type beta propeller (1);	0.571627	0.19378	N	0.115734	T	0.69133	0.3077	M	0.72894	2.215	0.34487	D	0.704535	P	0.52692	0.955	B	0.42319	0.383	T	0.81890	-0.0725	10	0.66056	D	0.02	.	18.1806	0.89776	0.0:0.0:1.0:0.0	.	352	Q2TBA0	KBTB5_HUMAN	I	352;97	ENSP00000287777:V352I	ENSP00000287777:V352I	V	+	1	0	KBTBD5	42703168	0.801000	0.28930	0.983000	0.44433	0.986000	0.74619	1.091000	0.30915	2.317000	0.78254	0.557000	0.71058	GTC		0.557	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		84	225	0	0	0	0.870114	0	84	225					A	42728164	G	A	42728164	3	1	62	1	0	0	0	0	1	0	0	0	8026	1145	40	1	1056	1	KBTBD5	3	42728164	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		42728164	155294266	9	7466											
COL6A5	256076	broad.mit.edu	37	chr3	130095344	130095344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcgggtccctgcagatagGaaaggctcttcaggaggctc	15	10	2	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:130095344G>C	ENST00000432398.2	+	3	826	c.332G>C	c.(331-333)gGa>gCa	p.G111A	COL6A5_ENST00000265379.6_Missense_Mutation_p.G111A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	111	Nonhelical region.|VWFA 1. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGCAGATAGGAAAGGCTCTT	0.502																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(331-333)gGa>gCa		collagen, type VI, alpha 5							52	49	50					3																	130095344		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095344G>C	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.332G>C	3.37:g.130095344G>C	ENSP00000390895:p.Gly111Ala					COL6A5_ENST00000432398.2_Missense_Mutation_p.G111A	p.G111A			A8TX70	CO6A5_HUMAN			3	826	+			111			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.332G>C		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857444	0.32791	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.84873	-1.91;-1.91	5.14	5.14	0.70334	.	.	.	.	.	D	0.94374	0.8191	M	0.93808	3.46	0.50039	D	0.99984	D	0.89917	1.0	D	0.87578	0.998	D	0.95050	0.8186	9	0.52906	T	0.07	.	17.7384	0.88401	0.0:0.0:1.0:0.0	.	111	A8TX70-2	.	A	111	ENSP00000390895:G111A;ENSP00000265379:G111A	ENSP00000265379:G111A	G	+	2	0	COL6A5	131578034	1.000000	0.71417	0.101000	0.21167	0.011000	0.07611	6.732000	0.74790	2.552000	0.86080	0.557000	0.71058	GGA		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		15	42	0	0	0	0.457914	0	15	42					C	130095344	G	C	130095344	3	2	62	1	0	0	0	0	1	0	0	0	3711	1174	41	5	338	5	COL6A5	3	130095344	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	87367180	130095344	67927086	10	7467											
TERT	7015	broad.mit.edu	37	chr5	1268676	1268676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcttgttctccatgtcGccgtagcacaggctgcagag	11	12	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:1268676G>A	ENST00000310581.5	-	9	2598	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000296820.5_Nonsense_Mutation_p.R787*|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787*	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	847	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCTCCATGTCGCCGTAGCACA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000296820.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2359-2361)Cga>Tga		telomerase reverse transcriptase							60	56	57					5																	1268676		2203	4299	6502	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268676G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2541C>T	5.37:g.1268676G>A						TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000310581.5_Silent_p.G847G|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787*	p.R787*			O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	2416	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		0			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Nonsense_Mutation	SNP	ENST00000310581.5	37	c.2359C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317035	0.60524	.	.	ENSG00000164362	ENST00000296820;ENST00000508104	.	.	.	4.26	-8.53	0.00916	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-21.1925	2.2151	0.03957	0.1623:0.3775:0.2637:0.1966	.	.	.	.	X	787	.	ENSP00000296820:R787X	R	-	1	2	TERT	1321676	0.000000	0.05858	0.266000	0.24541	0.081000	0.17604	-2.665000	0.00848	-3.015000	0.00271	-1.036000	0.02392	CGA		0.627	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			68	264	0	0	0	0.870114	0	68	264					A	1268676	G	A	1268676	2	1	62	1	0	0	0	0	0	0	0	1	15816	1074	38	1		1	TERT	5	1268676	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		1268676	179646584	11	7468											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	1315						7	1315	---	---	---	---	-	24492973	A	-	24492973	7	5	62	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-FZ-5924-01A-13D-1609-08	23224297	24492973	156422287	12	7469											
IL31RA	133396	broad.mit.edu	37	chr5	55206448	55206448	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggtcatggccagcacCagtgctgggggaaccaacgg	15	11	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:55206448C>A	ENST00000447346.2	+	12	1655	c.1590C>A	c.(1588-1590)acC>acA	p.T530T	IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000354961.4_Silent_p.T511T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000396834.1_Silent_p.T511T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	498					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGCCAGCACCAGTGCTGGGG	0.473																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1531-1533)acC>acA		interleukin 31 receptor A							163	141	148					5																	55206448		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206448C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1590C>A	5.37:g.55206448C>A						IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000447346.2_Silent_p.T530T|IL31RA_ENST00000354961.4_Silent_p.T511T	p.T511T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			14	2029	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	498			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1533C>A	CCDS3970.2																																																																																				0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		134	584	1	0	4.28411e-51	0.870114	4.66074e-51	134	584					A	55206448	C	A	55206448	2	1	62	1	0	0	0	0	0	0	0	1	7721	581	21	3		3	IL31RA	5	55206448	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	30713475	55206448	125708812	13	7470											
WDR36	134430	broad.mit.edu	37	chr5	110428198	110428198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagcgcgctttttgCggggttccgggccttgggac	16	13	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:110428198C>T	ENST00000513710.2	+	1	216	c.212C>T	c.(211-213)gCg>gTg	p.A71V	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_Missense_Mutation_p.A15V|WDR36_ENST00000506538.2_Missense_Mutation_p.A71V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	71					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCGCTTTTTGCGGGGTTCCGG	0.612																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(211-213)gCg>gTg		WD repeat domain 36							35	41	39					5																	110428198		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428198C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.212C>T	5.37:g.110428198C>T	ENSP00000424628:p.Ala71Val					WDR36_ENST00000513710.2_Missense_Mutation_p.A71V|WDR36_ENST00000505303.1_Missense_Mutation_p.A15V	p.A71V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	785	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	71					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.212C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219042	0.58560	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.68479	-0.33;-0.33;0.19	5.98	5.08	0.68730	.	0.217240	0.49305	D	0.000155	T	0.59702	0.2213	L	0.45352	1.415	0.42862	D	0.994119	B	0.26547	0.152	B	0.15484	0.013	T	0.61584	-0.7033	10	0.87932	D	0	-11.1537	16.2611	0.82547	0.0:0.8678:0.1322:0.0	.	71	Q8NI36	WDR36_HUMAN	V	71;71;15	ENSP00000423067:A71V;ENSP00000424628:A71V;ENSP00000422158:A15V	ENSP00000422158:A15V	A	+	2	0	WDR36	110456097	0.989000	0.36119	1.000000	0.80357	0.671000	0.39405	3.096000	0.50243	2.835000	0.97688	0.650000	0.86243	GCG		0.612	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		7	357	0	0	0	0.248553	0	7	357					T	110428198	C	T	110428198	3	4	62	1	0	0	0	0	1	0	0	0	17344	768	27	1	214	1	WDR36	5	110428198	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	55221750	110428198	70487062	14	7471											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800914	140800914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcggtgccagaagagacCgaaaagggctccttcgtggg	14	9	0	2	rs147068995	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:140800914C>T	ENST00000398587.2	+	1	153	c.120C>T	c.(118-120)acC>acT	p.T40T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	40	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAAGAGACCGAAAAGGGCT	0.652													c|||	8	0.00159744	0.0	0.0	5008	,	,		15520	0.0079		0.0	False		,,,				2504	0.0					ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(118-120)acC>acT									33	39	37					5																	140800914		1969	4219	6188	SO:0001819	synonymous_variant	0							g.chr5:140800914C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.120C>T	5.37:g.140800914C>T						PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T40T	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	153	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.120C>T	CCDS47294.1																																																																																				0.652	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		119	200	0	0	0	0.870114	0	119	200					T	140800914	C	T	140800914	2	4	62	1	0	0	0	0	0	0	0	1	11594	639	23	1		1	PCDHGA11	5	140800914	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	30372716	140800914	40114346	15	7472											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	823						7	823	---	---	---	---	-	176301304	CAC	-	176301302	7	5	62	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-FZ-5924-01A-13D-1609-08	35500388	176301302	4613958	16	7473											
MPP6	51678	broad.mit.edu	37	chr7	24690147	24690147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgatctggtaattgcccGaatcctccatgggggaatga	11	8	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:24690147G>A	ENST00000222644.5	+	5	717	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MPP6_ENST00000396475.2_Missense_Mutation_p.R156Q|MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTAATTGCCCGAATCCTCCAT	0.353																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(466-468)cGa>cAa		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							86	90	88					7																	24690147		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24690147G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.467G>A	7.37:g.24690147G>A	ENSP00000222644:p.Arg156Gln					MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q|MPP6_ENST00000222644.4_Missense_Mutation_p.R156Q	p.R156Q	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			6	766	+			156			PDZ.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.467G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476117	0.96291	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.47093	D	0.000251	T	0.63165	0.2488	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.66834	-0.5823	10	0.72032	D	0.01	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	156	Q9NZW5	MPP6_HUMAN	Q	156;156;44;156;156	ENSP00000395859:R156Q;ENSP00000222644:R156Q;ENSP00000386262:R44Q;ENSP00000379737:R156Q;ENSP00000391020:R156Q	ENSP00000222644:R156Q	R	+	2	0	MPP6	24656672	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.130000	0.94437	2.882000	0.98803	0.655000	0.94253	CGA		0.353	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	400	0	0	0	0.27861	0	7	400					A	24690147	G	A	24690147	3	1	62	1	0	0	0	0	1	0	0	0	9779	1058	37	1	481	1	MPP6	7	24690147	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		24690147	134448516	17	7474											
MMP16	4325	broad.mit.edu	37	chr8	89086968	89086968	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcactcgccaaaaccactGgtcctgcaaaccaagcaaag	6	15	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:89086968G>A	ENST00000286614.6	-	7	1368	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	363					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)			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)	CAAAACCACTGGTCCTGCAAA	0.498																																						ENST00000286614.6																			0				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						c.(1087-1089)Cag>Tag		matrix metallopeptidase 16 (membrane-inserted)							149	142	144					8																	89086968		2203	4300	6503	SO:0001587	stop_gained	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.chr8:89086968G>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.1087C>T	8.37:g.89086968G>A	ENSP00000286614:p.Gln363*					MMP16_ENST00000544227.1_5'UTR	p.Q363*	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			7	1368	-			363			Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	c.1087C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	39	7.612203	0.98390	.	.	ENSG00000156103	ENST00000286614	.	.	.	4.88	4.88	0.63580	.	0.222920	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.4198	0.90586	0.0:0.0:1.0:0.0	.	.	.	.	X	363	.	ENSP00000286614:Q363X	Q	-	1	0	MMP16	89156084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.914000	0.87478	2.397000	0.81536	0.650000	0.86243	CAG		0.498	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		99	329	0	0	0	0.870114	0	99	329					A	89086968	G	A	89086968	4	1	62	1	0	0	0	0	0	1	0	0	9696	1357	47	2	908	2	MMP16	8	89086968	Nonsense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		89086968	57277054	18	7475											
TAF2	6873	broad.mit.edu	37	chr8	120843973	120843973	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgacctgatgggttgTatattaataaatataaaaag	9	4	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:120843973T>C	ENST00000378164.2	-	2	382		c.e2-2			NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						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)			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)			TGATGGGTTGtatattaataa	0.244																																						ENST00000378164.2																			0				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						c.e2-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							32	35	34					8																	120843973		2189	4297	6486	SO:0001630	splice_region_variant	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.chr8:120843973T>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.84-2A>G	8.37:g.120843973T>C								NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	382	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1																																																																																				0.244	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	60	158	0	0	0	0.870114	0	60	158					C	120843973	T	C	120843973	5	2	62	1	0	0	0	0	0	0	1	0	15576	1652	57	4	3617	4	TAF2	8	120843973	Splice_Site	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	31757005	120843973	25520049	19	7476											
OLFML2A	169611	broad.mit.edu	37	chr9	127549437	127549437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccgctgctcctgtaccGcacctccctcctctctcaac	5	21	2	0	rs147454300		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:127549437G>A	ENST00000373580.3	+	2	274	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	92					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTCCTGTACCGCACCTCCCTC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(274-276)Gca>Aca		olfactomedin-like 2A		G	THR/ALA	2,4304		0,2,2151	49	58	55		274	5.8	0.5	9	dbSNP_134	55	0,8506		0,0,4253	yes	missense	OLFML2A	NM_182487.2	58	0,2,6404	AA,AG,GG		0.0,0.0464,0.0156	probably-damaging	92/653	127549437	2,12810	2153	4253	6406	SO:0001583	missense	169611							g.chr9:127549437G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.274G>A	9.37:g.127549437G>A	ENSP00000362682:p.Ala92Thr						p.A92T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	274	+			92					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.274G>A	CCDS6857.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.3	4.397941	0.83120	4.64E-4	0.0	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.49432	0.78;0.78	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74844	-0.3526	10	0.87932	D	0	.	18.7171	0.91679	0.0:0.0:1.0:0.0	.	92;92	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	T	92	ENSP00000336425:A92T;ENSP00000362682:A92T	ENSP00000336425:A92T	A	+	1	0	OLFML2A	126589258	1.000000	0.71417	0.524000	0.27887	0.258000	0.26162	9.419000	0.97397	2.758000	0.94735	0.655000	0.94253	GCA		0.617	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		88	189	0	0	0	0.870114	0	88	189					A	127549437	G	A	127549437	3	1	62	1	0	0	0	0	1	0	0	0	10899	1087	38	1	280	1	OLFML2A	9	127549437	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		127549437	13663994	20	7477											
DHTKD1	55526	broad.mit.edu	37	chr10	12142180	12142180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaattttacagtccAgaatggagaagatgatggac	10	7	1	5			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:12142180A>G	ENST00000263035.4	+	9	1737	c.1675A>G	c.(1675-1677)Aga>Gga	p.R559G		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	559					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACAGTCCAGAATGGAGAA	0.413																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1675-1677)Aga>Gga		dehydrogenase E1 and transketolase domain containing 1							122	133	130					10																	12142180		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12142180A>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1675A>G	10.37:g.12142180A>G	ENSP00000263035:p.Arg559Gly						p.R559G	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		9	1737	+		Renal(717;0.228)	559					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1675A>G	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.29|16.29	3.082353|3.082353	0.55861|0.55861	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|D	.|0.91351	.|-2.83	5.39|5.39	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95579|0.95579	0.8563|0.8563	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95530|0.95530	0.8602|0.8602	5|10	.|0.87932	.|D	.|0	-10.1956|-10.1956	12.5082|12.5082	0.55993|0.55993	0.8603:0.1397:0.0:0.0|0.8603:0.1397:0.0:0.0	.|.	.|559	.|Q96HY7	.|DHTK1_HUMAN	R|G	110|559	.|ENSP00000263035:R559G	.|ENSP00000263035:R559G	Q|R	+|+	2|1	0|2	DHTKD1|DHTKD1	12182186|12182186	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.448000|0.448000	0.32197|0.32197	3.179000|3.179000	0.50887|0.50887	0.872000|0.872000	0.35775|0.35775	0.397000|0.397000	0.26171|0.26171	CAG|AGA		0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		259	802	0	0	0	0.870114	0	259	802					G	12142180	A	G	12142180	3	3	62	1	0	0	0	0	1	0	0	0	4516	180	7	4	1709	4	DHTKD1	10	12142180	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08		12142180	123392567	21	7478											
PLXDC2	84898	broad.mit.edu	37	chr10	20534299	20534299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagatgacagtgcagctgaGaagaaagggggaaccctcca	13	9	0	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:20534299G>C	ENST00000377252.4	+	13	2179	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	446					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTGCAGCTGAGAAGAAAGGGG	0.468																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1336-1338)gaG>gaC		plexin domain containing 2							129	116	120					10																	20534299		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20534299G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1338G>C	10.37:g.20534299G>C	ENSP00000366460:p.Glu446Asp					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D|PLXDC2_ENST00000377238.2_3'UTR	p.E446D	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			13	2179	+			446					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1338G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343622	0.41498	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.23552	1.9;1.94	5.9	3.0	0.34707	.	0.136616	0.64402	D	0.000002	T	0.15478	0.0373	N	0.20685	0.6	0.48452	D	0.999655	B;B	0.18013	0.025;0.005	B;B	0.18561	0.022;0.006	T	0.06734	-1.0810	10	0.21014	T	0.42	.	11.6336	0.51189	0.1965:0.0:0.8035:0.0	.	397;446	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	D	446;397;309;432	ENSP00000366460:E446D;ENSP00000366450:E397D	ENSP00000366446:E309D	E	+	3	2	PLXDC2	20574305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.102000	0.41796	0.819000	0.34492	0.650000	0.86243	GAG		0.468	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		84	329	0	0	0	0.870114	0	84	329					C	20534299	G	C	20534299	3	2	62	1	0	0	0	0	1	0	0	0	12160	933	33	5	1388	5	PLXDC2	10	20534299	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	8392119	20534299	115000448	22	7479											
ANKRD26	22852	broad.mit.edu	37	chr10	27324226	27324226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttttaggttagacacAtcaaaattcattttgtcctg	5	7	3	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27324226A>G	ENST00000376087.4	-	24	3318	c.3153T>C	c.(3151-3153)gaT>gaC	p.D1051D	ANKRD26_ENST00000376070.3_Silent_p.D608D|ANKRD26_ENST00000436985.2_Silent_p.D1067D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1050					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTAGACACATCAAAATTCA	0.343																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3151-3153)gaT>gaC		ankyrin repeat domain 26							95	88	90					10																	27324226		1857	4096	5953	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27324226A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3153T>C	10.37:g.27324226A>G						ANKRD26_ENST00000436985.2_Silent_p.D1067D|ANKRD26_ENST00000376070.3_Silent_p.D608D	p.D1051D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3318	-			1050					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.3153T>C	CCDS41499.1																																																																																				0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			128	332	0	0	0	0.870114	0	128	332					G	27324226	A	G	27324226	2	3	62	1	0	0	0	0	0	0	0	1	654	214	8	4		4	ANKRD26	10	27324226	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	6789927	27324226	108210521	23	7480											
PTCHD3	374308	broad.mit.edu	37	chr10	27702139	27702139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatgttggtaaattgatcGagcaaatgggtgagccactg	12	5	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27702139G>A	ENST00000438700.3	-	1	1158	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	347					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.L347L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAAATTGATCGAGCAAATGGG	0.517																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.L347L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1039-1041)ctC>ctT		patched domain containing 3							161	170	167					10																	27702139		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702139G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1041C>T	10.37:g.27702139G>A							p.L347L	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	1158	-			347					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1041C>T	CCDS31173.1																																																																																				0.517	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		346	1057	0	0	0	0.870114	0	346	1057					A	27702139	G	A	27702139	2	1	62	1	0	0	0	0	0	0	0	1	12781	1045	37	1		1	PTCHD3	10	27702139	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	377913	27702139	107832608	24	7481											
PLCE1	51196	broad.mit.edu	37	chr10	96005755	96005755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacatctttgagcaatccAaagaatacgactctcatggt	7	9	2	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:96005755A>G	ENST00000371380.3	+	7	2708	c.2473A>G	c.(2473-2475)Aaa>Gaa	p.K825E	PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E|PLCE1_ENST00000260766.3_Missense_Mutation_p.K825E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	825					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAGCAATCCAAAGAATACGA	0.433																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2473-2475)Aaa>Gaa		phospholipase C, epsilon 1							90	89	90					10																	96005755		1973	4171	6144	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005755A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2473A>G	10.37:g.96005755A>G	ENSP00000360431:p.Lys825Glu					PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E|PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371380.2_Missense_Mutation_p.K825E	p.K825E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3107	+		Colorectal(252;0.0458)	825					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2473A>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682643	0.47991	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.04	3.67	0.42095	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.175505	0.48286	D	0.000191	T	0.37265	0.0997	L	0.59436	1.845	0.36442	D	0.865526	D;P;B	0.53745	0.962;0.804;0.152	P;B;B	0.47786	0.557;0.225;0.043	T	0.46721	-0.9171	10	0.54805	T	0.06	.	13.2218	0.59892	0.7495:0.2505:0.0:0.0	.	825;517;825	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	E	825;825;517;517	ENSP00000260766:K825E;ENSP00000360431:K825E;ENSP00000360438:K517E;ENSP00000360426:K517E	ENSP00000260766:K825E	K	+	1	0	PLCE1	95995745	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	5.520000	0.67080	0.505000	0.28104	0.477000	0.44152	AAA		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		110	295	0	0	0	0.870114	0	110	295					G	96005755	A	G	96005755	3	3	62	1	0	0	0	0	1	0	0	0	12076	131	5	4	2785	4	PLCE1	10	96005755	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	68303616	96005755	39528992	25	7482											
TAF5	6877	broad.mit.edu	37	chr10	105128042	105128042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgacagactctactggCcgtgctgcagttcctacggc	11	14	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:105128042C>A	ENST00000369839.3	+	1	319	c.296C>A	c.(295-297)gCc>gAc	p.A99D	TAF5_ENST00000351396.4_Missense_Mutation_p.A99D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	99	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTCTACTGGCCGTGCTGCAG	0.756																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(295-297)gCc>gAc		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							6	7	7					10																	105128042		1953	3976	5929	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105128042C>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.296C>A	10.37:g.105128042C>A	ENSP00000358854:p.Ala99Asp					TAF5_ENST00000351396.4_Missense_Mutation_p.A99D	p.A99D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	319	+		Colorectal(252;0.0747)|Breast(234;0.128)	99			LisH.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.296C>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119267	0.94385	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.61742	0.47;0.08	4.25	4.25	0.50352	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.71941	-0.4440	10	0.72032	D	0.01	-8.6369	17.1956	0.86891	0.0:1.0:0.0:0.0	.	99;99	Q15542-2;Q15542	.;TAF5_HUMAN	D	99	ENSP00000358854:A99D;ENSP00000311024:A99D	ENSP00000311024:A99D	A	+	2	0	TAF5	105118032	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	6.469000	0.73555	2.354000	0.79902	0.561000	0.74099	GCC		0.756	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			3	52	1	0	6.4e-05	0.115264	6.66947e-05	3	52					A	105128042	C	A	105128042	3	1	62	1	0	0	0	0	1	0	0	0	15580	739	26	3	298	3	TAF5	10	105128042	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	9122287	105128042	30406705	26	7483											
EBF3	253738	broad.mit.edu	37	chr10	131639152	131639152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccattaagaaatccaggcGagccagggacccctagactg	11	12	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:131639152G>A	ENST00000355311.5	-	14	1589	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.S497L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	506	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAATCCAGGCGAGCCAGGGAC	0.522																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1489-1491)tCg>tTg		early B-cell factor 3							126	121	123					10																	131639152		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639152G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1517C>T	10.37:g.131639152G>A	ENSP00000347463:p.Ser506Leu					EBF3_ENST00000355311.5_Missense_Mutation_p.S506L	p.S497L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1562	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	506			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1490C>T		.	.	.	.	.	.	.	.	.	.	G	18.05	3.537959	0.65085	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.53423	0.62;0.62	4.89	4.89	0.63831	.	0.053405	0.85682	D	0.000000	T	0.56659	0.2000	M	0.74647	2.275	0.80722	D	1	P	0.39535	0.677	B	0.42738	0.396	T	0.64032	-0.6502	10	0.66056	D	0.02	-8.9619	18.2577	0.90024	0.0:0.0:1.0:0.0	.	497	Q9H4W6-2	.	L	506;497	ENSP00000347463:S506L;ENSP00000357637:S497L	ENSP00000347463:S506L	S	-	2	0	EBF3	131529142	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.607000	0.98328	2.523000	0.85059	0.655000	0.94253	TCG		0.522	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		162	519	0	0	0	0.870114	0	162	519					A	131639152	G	A	131639152	3	1	62	1	0	0	0	0	1	0	0	0	4898	1059	37	1	177	1	EBF3	10	131639152	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	26511110	131639152	3895595	27	7484											
SLC22A11	55867	broad.mit.edu	37	chr11	64323727	64323727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggggccccaccagtgcCgccgcttccgccagccacag	11	20	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:64323727C>T	ENST00000301891.4	+	1	630	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	86					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCACCAGTGCCGCCGCTTCCG	0.652											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(256-258)Cgc>Tgc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						54	63	60					11																	64323727		2193	4285	6478	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323727C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.256C>T	11.37:g.64323727C>T	ENSP00000301891:p.Arg86Cys		OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR	p.R86C	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			1	630	+			86					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.256C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714536	0.30413	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.15256	2.44;2.44;2.44	3.97	3.03	0.35002	.	0.303042	0.29932	U	0.010832	T	0.45577	0.1349	M	0.90082	3.085	0.19300	N	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.949;0.939;0.939;0.997	T	0.35549	-0.9784	10	0.72032	D	0.01	.	10.042	0.42164	0.0:0.8959:0.0:0.1041	.	86;86;86;86	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	C	86	ENSP00000301891:R86C;ENSP00000366809:R86C;ENSP00000366804:R86C	ENSP00000301891:R86C	R	+	1	0	SLC22A11	64080303	0.084000	0.21492	0.005000	0.12908	0.009000	0.06853	2.027000	0.41078	0.978000	0.38470	0.543000	0.68304	CGC		0.652	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		271	696	0	0	0	0.870114	0	271	696					T	64323727	C	T	64323727	3	4	62	1	0	0	0	0	1	0	0	0	14492	652	23	1	258	1	SLC22A11	11	64323727	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		64323727	70682789	28	7485											
LRFN4	78999	broad.mit.edu	37	chr11	66625342	66625342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgaggcctgctgtttgtgCcgcccaacgtggaccggcgc	14	15	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66625342C>T	ENST00000309602.4	+	1	370	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	43	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCTGTTTGTGCCGCCCAACGT	0.687																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(127-129)Ccg>Tcg		leucine rich repeat and fibronectin type III domain containing 4							44	38	40					11																	66625342		2199	4295	6494	SO:0001583	missense	78999					integral to membrane		g.chr11:66625342C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.127C>T	11.37:g.66625342C>T	ENSP00000312535:p.Pro43Ser					PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron	p.P43S	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	370	+			43			LRRNT.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.127C>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558192	0.86231	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.59083	0.29;0.29	4.41	4.41	0.53225	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.47455	D	0.000226	T	0.72684	0.3491	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75988	-0.3123	10	0.87932	D	0	.	14.8788	0.70516	0.0:1.0:0.0:0.0	.	43;43	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	S	43	ENSP00000377524:P43S;ENSP00000312535:P43S	ENSP00000312535:P43S	P	+	1	0	LRFN4	66381918	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.591000	0.82666	2.446000	0.82766	0.455000	0.32223	CCG		0.687	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		5	276	0	0	0	0.184627	0	5	276					T	66625342	C	T	66625342	3	4	62	1	0	0	0	0	1	0	0	0	8978	739	26	2	129	2	LRFN4	11	66625342	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	2301615	66625342	68381174	29	7486											
PC	5091	broad.mit.edu	37	chr11	66637839	66637839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggtccaggtgggcggcGggggcaatctcgaccacctt	17	12	1	0	rs369972881		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66637839G>A	ENST00000393958.2	-	8	930	c.837C>T	c.(835-837)ccC>ccT	p.P279P	PC_ENST00000393960.1_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P|PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	279	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGTGGGCGGCGGGGGCAATCT	0.637																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(835-837)ccC>ccT		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)	G	,,	0,4400		0,0,2200	53	55	54		837,837,837	-11.6	0.4	11		54	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PC	NM_000920.3,NM_001040716.1,NM_022172.2	,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,	279/1179,279/1179,279/1179	66637839	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66637839G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.837C>T	11.37:g.66637839G>A						PC_ENST00000393958.2_Silent_p.P279P|PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P	p.P279P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	9	1118	-		Melanoma(852;0.0525)	279			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.837C>T	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		79	435	0	0	0	0.870114	0	79	435					A	66637839	G	A	66637839	2	1	62	1	0	0	0	0	0	0	0	1	11539	1103	39	1		1	PC	11	66637839	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	12497	66637839	68368677	30	7487											
MYEOV	26579	broad.mit.edu	37	chr11	69063185	69063185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccctgcgtgttgcgGtgagaggagcatttgtgtct	15	10	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:69063185G>A	ENST00000308946.3	+	3	718	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	MYEOV_ENST00000535407.1_Missense_Mutation_p.V32M|MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	90										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCGTGTTGCGGTGAGAGGAGC	0.632																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(94-96)Gtg>Atg		myeloma overexpressed							80	82	81					11																	69063185		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063185G>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.268G>A	11.37:g.69063185G>A	ENSP00000308330:p.Val90Met					MYEOV_ENST00000308946.3_Missense_Mutation_p.V90M|MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M	p.V32M			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	737	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		90					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.94G>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869769	0.17322	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25085	1.82;1.82;1.82	1.25	0.0394	0.14204	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.26538	-1.0100	9	0.87932	D	0	.	3.0102	0.06042	0.6752:0.0:0.3248:0.0	.	90	Q96EZ4	MYEOV_HUMAN	M	90;90;32	ENSP00000412482:V90M;ENSP00000308330:V90M;ENSP00000438100:V32M	ENSP00000308330:V90M	V	+	1	0	MYEOV	68819761	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.366000	0.07563	0.001000	0.14605	-0.339000	0.08088	GTG		0.632	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			83	578	0	0	0	0.870114	0	83	578					A	69063185	G	A	69063185	3	1	62	1	0	0	0	0	1	0	0	0	10066	1261	44	2	274	2	MYEOV	11	69063185	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	2425346	69063185	65943331	31	7488											
B3GAT1	27087	broad.mit.edu	37	chr11	134254062	134254062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgggcggcgtttcgcGtcgggggtcactgccctcat	17	14	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:134254062G>A	ENST00000524765.1	-	3	4677	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	45					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGTTTCGCGTCGGGGGTCA	0.711																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(133-135)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							23	18	19					11																	134254062		2143	4197	6340	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134254062G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.133C>T	11.37:g.134254062G>A	ENSP00000433847:p.Arg45Cys					B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000531510.1_5'UTR	p.R45C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	4677	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	45					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.133C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951825	0.34471	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64991	-0.12;-0.12;-0.12;-0.13	4.7	4.7	0.59300	.	0.349373	0.29668	N	0.011515	T	0.57975	0.2090	L	0.44542	1.39	0.20489	N	0.999899	D;P	0.60575	0.988;0.942	P;B	0.46049	0.502;0.306	T	0.57625	-0.7779	10	0.62326	D	0.03	-5.4665	12.6982	0.57016	0.0:0.0:0.8351:0.1649	.	58;45	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	45;45;45;58	ENSP00000376359:R45C;ENSP00000307875:R45C;ENSP00000433847:R45C;ENSP00000445983:R58C	ENSP00000307875:R45C	R	-	1	0	B3GAT1	133759272	1.000000	0.71417	0.396000	0.26296	0.127000	0.20565	3.867000	0.56047	2.157000	0.67596	0.491000	0.48974	CGC		0.711	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		51	135	0	0	0	0.870114	0	51	135					A	134254062	G	A	134254062	3	1	62	1	0	0	0	0	1	0	0	0	1254	1145	40	1	883	1	B3GAT1	11	134254062	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	65190877	134254062	752454	32	7489											
DCP1B	196513	broad.mit.edu	37	chr12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-													tggcagaggaactggttatcTtttttggctcagaacaggtt							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(547-549)agfs		decapping mRNA 1B							190	184	186					12																	2064701		2203	4300	6503	SO:0001589	frameshift_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064701delT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.548delA	12.37:g.2064701delT	ENSP00000280665:p.Lys183fs					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs	p.K183fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	627	-			183					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Del	DEL	ENST00000280665.6	37	c.548delA	CCDS31727.1																																																																																				0.378	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		9	1014						9	1014	---	---	---	---	-	2064701	T	-	2064701	7	5	62	1	0	1	0	1	0	0	0	0	4310	1609	56	0	1321	0	DCP1B	12	2064701	Frame_Shift_Del	DEL	T	TCGA-FZ-5924-01A-13D-1609-08		2064701	131787194	33	7490											
CACNA1C	775	broad.mit.edu	37	chr12	2702421	2702421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgcctgtcggccctcGcccacgaccactctctgagc	10	17	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2702421G>A	ENST00000347598.4	+	19	2573	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	858					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)			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)	GTCGGCCCTCGCCCACGACCA	0.512																																						ENST00000399655.1																			0				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						c.(2572-2574)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						60	61	60					12																	2702421		1991	4172	6163	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.chr12:2702421G>A	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.2573G>A	12.37:g.2702421G>A	ENSP00000266376:p.Arg858His					CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H	p.R858H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	19	2838	+			858					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.2573G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701705	0.88924	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.08;-4.07;-4.03;-4.06;-4.05;-4.06;-4.08;-3.97;-4.0;-4.06;-3.99;-3.99;-4.06;-4.11;-3.97;-3.9;-4.12;-4.08;-4.07;-4.09;-4.0;-4.08;-4.13	4.86	4.86	0.63082	.	0.050825	0.85682	D	0.000000	D	0.98147	0.9388	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.862;1.0;0.961;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;P;D;D;D;D;D;D	0.91635	0.997;0.985;0.973;0.984;0.997;0.998;0.997;0.999;0.988;0.975;0.998;0.996;0.966;0.999;0.991;0.997;0.993;0.301;0.998;0.535;0.993;0.998;0.998;0.997;0.989;0.997	D	0.98708	1.0703	10	0.59425	D	0.04	.	18.1721	0.89749	0.0:0.0:1.0:0.0	.	858;855;858;858;858;858;858;858;858;858;858;858;829;858;858;858;858;858;858;858;858;858;858;858;858;858	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	883;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;699	ENSP00000336982:R883H;ENSP00000382563:R858H;ENSP00000437936:R858H;ENSP00000382552:R858H;ENSP00000382547:R858H;ENSP00000382506:R858H;ENSP00000382530:R858H;ENSP00000382546:R858H;ENSP00000382500:R858H;ENSP00000382549:R858H;ENSP00000266376:R858H;ENSP00000382515:R858H;ENSP00000382510:R858H;ENSP00000341092:R858H;ENSP00000382537:R858H;ENSP00000329877:R858H;ENSP00000382557:R858H;ENSP00000385724:R858H;ENSP00000382512:R858H;ENSP00000382542:R858H;ENSP00000382526:R858H;ENSP00000385896:R858H;ENSP00000382504:R858H	ENSP00000323129:R699H	R	+	2	0	CACNA1C	2572682	1.000000	0.71417	0.982000	0.44146	0.624000	0.37722	9.657000	0.98554	2.541000	0.85698	0.462000	0.41574	CGC		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		40	181	0	0	0	0.819951	0	40	181					A	2702421	G	A	2702421	3	1	62	1	0	0	0	0	1	0	0	0	2547	1087	38	1	2755	1	CACNA1C	12	2702421	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	637720	2702421	131149474	34	7491											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		19	138	0	0	0	0.624587	0	19	138					G	25398285	C	G	25398285	3	3	62	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	22695864	25398285	108453610	35	7492											
ANO6	196527	broad.mit.edu	37	chr12	45803201	45803201	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaaaagataaccccaCgatgggaacaggactaccat	9	10	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:45803201C>T	ENST00000320560.8	+	16	2144	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669*|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*|ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	648					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATAACCCCACGATGGGAACA	0.353																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1942-1944)Cga>Tga		anoctamin 6							118	119	119					12																	45803201		2203	4300	6503	SO:0001587	stop_gained	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45803201C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1942C>T	12.37:g.45803201C>T	ENSP00000320087:p.Arg648*					ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*|ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669*	p.R648*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			16	2144	+			648					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Nonsense_Mutation	SNP	ENST00000320560.8	37	c.1942C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	41	8.569374	0.98868	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	4.9	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7773	0.69740	0.145:0.855:0.0:0.0	.	.	.	.	X	648;669;648;648;630	.	ENSP00000320087:R648X	R	+	1	2	ANO6	44089468	0.978000	0.34361	1.000000	0.80357	0.999000	0.98932	2.049000	0.41288	2.652000	0.90054	0.655000	0.94253	CGA		0.353	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		160	332	0	0	0	0.870114	0	160	332					T	45803201	C	T	45803201	4	4	62	1	0	0	0	0	0	1	0	0	701	528	19	1	2024	1	ANO6	12	45803201	Nonsense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	20404916	45803201	88048694	36	7493											
FZD10	11211	broad.mit.edu	37	chr12	130647817	130647817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgccgggtcatgtgCgagcaggcccggctcaagtg	15	15	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:130647817C>T	ENST00000229030.4	+	1	814	c.330C>T	c.(328-330)tgC>tgT	p.C110C	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Nonsense_Mutation_p.R78*			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	110	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)			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)		GGGTCATGTGCGAGCAGGCCC	0.642																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(232-234)Cga>Tga		frizzled family receptor 10							73	71	72					12																	130647817		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:130647817C>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.330C>T	12.37:g.130647817C>T						FZD10_ENST00000229030.4_Silent_p.C110C	p.R78*	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	814	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.232C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	42	9.333676	0.99140	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.81	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0871	0.48093	0.0:0.8429:0.0:0.1571	.	.	.	.	X	78	.	ENSP00000438460:R78X	R	+	1	2	FZD10	129213770	0.060000	0.20803	1.000000	0.80357	0.998000	0.95712	-0.567000	0.05916	1.009000	0.39289	0.561000	0.74099	CGA		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				31	584	0	0	0	0.740014	0	31	584					T	130647817	C	T	130647817	2	4	62	1	0	0	0	0	0	0	0	1	6156	776	27	1		1	FZD10	12	130647817	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	84844616	130647817	3204078	37	7494											
SPTB	6710	broad.mit.edu	37	chr14	65266502	65266502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcggtaggtgctgaaggCctgcagctgctgctggacgc	18	10	0	1	rs149837193	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:65266502C>T	ENST00000389721.5	-	8	1059	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	SPTB_ENST00000542895.1_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T|SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000389722.3_Missense_Mutation_p.A343T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	343					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCTGAAGGCCTGCAGCTGC	0.617																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1027-1029)Gcc>Acc		spectrin, beta, erythrocytic		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	68	60	63		1027,1027	3.3	1	14	dbSNP_134	63	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	58,58	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign,benign	343/2138,343/2329	65266502	6,13000	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65266502C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1027G>A	14.37:g.65266502C>T	ENSP00000374371:p.Ala343Thr					SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000542895.1_Missense_Mutation_p.A343T|SPTB_ENST00000389721.5_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T	p.A343T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	8	1080	-		all_lung(585;4.15e-09)	343					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1027G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281123	0.59758	2.27E-4	5.81E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.31	3.31	0.37934	.	0.111803	0.64402	D	0.000009	T	0.58736	0.2143	L	0.46157	1.445	0.54753	D	0.999982	B;B	0.25169	0.058;0.119	B;B	0.33121	0.072;0.158	T	0.61431	-0.7064	10	0.56958	D	0.05	.	7.688	0.28550	0.2155:0.6935:0.0:0.091	.	343;347	P11277;Q59FP5	SPTB1_HUMAN;.	T	347;343;343;343;343;343	ENSP00000374372:A343T;ENSP00000451752:A343T;ENSP00000374371:A343T;ENSP00000443882:A343T;ENSP00000374370:A343T	ENSP00000374370:A343T	A	-	1	0	SPTB	64336255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.041000	0.41213	2.480000	0.83734	0.563000	0.77884	GCC		0.617	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			105	299	0	0	0	0.870114	0	105	299					T	65266502	C	T	65266502	3	4	62	1	0	0	0	0	1	0	0	0	15170	739	26	2	6140	2	SPTB	14	65266502	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		65266502	42083038	38	7495											
BRF1	2972	broad.mit.edu	37	chr14	105707720	105707720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctccccgaattccagcagGtgcgcaaagcgtggaatata	10	11	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:105707720G>T	ENST00000546474.1	-	6	15535	c.576C>A	c.(574-576)caC>caA	p.H192Q	BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q|BRF1_ENST00000392557.4_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	192					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATTCCAGCAGGTGCGCAAAGC	0.632																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(574-576)caC>caA		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							97	79	85					14																	105707720		2200	4300	6500	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105707720G>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.576C>A	14.37:g.105707720G>T	ENSP00000448323:p.His192Gln					BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q	p.H192Q	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	6	15535	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	192					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.576C>A	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.444|6.444	0.449987|0.449987	0.12223|0.12223	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513|ENST00000546417	.|.	.|.	.|.	4.51|4.51	1.6|1.6	0.23607|0.23607	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);|.	0.051380|.	0.85682|.	D|.	0.000000|.	T|T	0.53449|0.53449	0.1797|0.1797	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24186|.	0.067;0.081;0.099|.	B;B;B|.	0.29353|.	0.039;0.061;0.101|.	T|T	0.39375|0.39375	-0.9617|-0.9617	9|5	0.30854|.	T|.	0.27|.	.|.	7.7421|7.7421	0.28848|0.28848	0.2896:0.0:0.7104:0.0|0.2896:0.0:0.7104:0.0	.|.	77;165;192|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	Q|T	165;192;77;77|46	.|.	ENSP00000329029:H77Q|.	H|P	-|-	3|1	2|0	BRF1|BRF1	104778765|104778765	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.131000|0.131000	0.20780|0.20780	0.392000|0.392000	0.20801|0.20801	0.104000|0.104000	0.17725|0.17725	0.591000|0.591000	0.81541|0.81541	CAC|CCT		0.632	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		58	231	1	0	7.50695e-29	0.870114	8.07814e-29	58	231					T	105707720	G	T	105707720	3	4	62	1	0	0	0	0	1	0	0	0	1514	1252	44	3	1509	3	BRF1	14	105707720	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	40441218	105707720	1641820	39	7496											
ZFYVE19	84936	broad.mit.edu	37	chr15	41101367	41101367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcaggctgcctaagcttCagtgcagcagtgcctcggac	12	12	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:41101367C>T	ENST00000355341.4	+	2	831	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Silent_p.F87F	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	110					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTAAGCTTCAGTGCAGCAG	0.562																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(328-330)ttC>ttT		zinc finger, FYVE domain containing 19							64	70	68					15																	41101367		2022	4184	6206	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41101367C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.330C>T	15.37:g.41101367C>T						ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Silent_p.F87F	p.F110F	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	2	831	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	110					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.330C>T	CCDS42025.1																																																																																				0.562	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		9	476	0	0	0	0.307466	0	9	476					T	41101367	C	T	41101367	2	4	62	1	0	0	0	0	0	0	0	1	17718	825	29	2		2	ZFYVE19	15	41101367	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		41101367	61430025	40	7497											
SHC4	399694	broad.mit.edu	37	chr15	49255053	49255053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaggctgcggcgagcCcttgttcccgaccgagcctc	16	14	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:49255053C>T	ENST00000332408.4	-	1	588	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	54	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGCGGCGAGCCCTTGTTCCCG	0.662																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(160-162)Ggc>Agc		SHC (Src homology 2 domain containing) family, member 4							36	40	38					15																	49255053		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255053C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.160G>A	15.37:g.49255053C>T	ENSP00000329668:p.Gly54Ser						p.G54S	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	588	-		all_lung(180;0.00466)	54			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.160G>A	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049779	0.19827	.	.	ENSG00000185634	ENST00000332408	T	0.40225	1.04	4.63	1.66	0.24008	.	0.610891	0.15419	N	0.263333	T	0.26846	0.0657	L	0.34521	1.04	0.80722	D	1	B	0.18863	0.031	B	0.15870	0.014	T	0.06320	-1.0833	10	0.08837	T	0.75	-5.508	9.9608	0.41695	0.0:0.7689:0.0:0.2311	.	54	Q6S5L8	SHC4_HUMAN	S	54	ENSP00000329668:G54S	ENSP00000329668:G54S	G	-	1	0	SHC4	47042345	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	2.254000	0.43214	0.575000	0.29434	-0.140000	0.14226	GGC		0.662	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		150	418	0	0	0	0.870114	0	150	418					T	49255053	C	T	49255053	3	4	62	1	0	0	0	0	1	0	0	0	14323	623	22	2	1780	2	SHC4	15	49255053	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	8153686	49255053	53276339	41	7498											
ARNT2	9915	broad.mit.edu	37	chr15	80800573	80800573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatgtgcatgggctcGcggcggtctttcatctgcag	15	9	3	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:80800573G>A	ENST00000303329.4	+	6	864	c.699G>A	c.(697-699)tcG>tcA	p.S233S	ARNT2_ENST00000533983.1_Silent_p.S222S|ARNT2_ENST00000527771.1_Silent_p.S222S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	233					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGGCTCGCGGCGGTCTT	0.537																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(664-666)tcG>tcA		aryl-hydrocarbon receptor nuclear translocator 2							109	94	99					15																	80800573		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80800573G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.699G>A	15.37:g.80800573G>A						ARNT2_ENST00000303329.4_Silent_p.S233S|ARNT2_ENST00000527771.1_Silent_p.S222S	p.S222S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		7	1005	+			233					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.666G>A	CCDS32307.1																																																																																				0.537	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			79	320	0	0	0	0.870114	0	79	320					A	80800573	G	A	80800573	2	1	62	1	0	0	0	0	0	0	0	1	967	1074	38	1		1	ARNT2	15	80800573	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	31545520	80800573	21730819	42	7499											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086466	2086466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacccgggctcacctgccGcccgctctggcctccgcgcc	12	21	2	0	rs367680143	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:2086466G>A	ENST00000424542.2	+	3	694	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	186	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						CTCACCTGCCGCCCGCTCTGG	0.697													g|||	2	0.000399361	0.0008	0.0	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.001				Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(556-558)Gcc>Acc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2			THR/ALA,THR/ALA	0,4048		0,0,2024	12	16	15		556,556	3.5	0.8	16		15	1,8329		0,1,4164	no	missense,missense	SLC9A3R2	NM_001130012.1,NM_004785.4	58,58	0,1,6188	AA,AG,GG		0.012,0.0,0.0081	benign,benign	186/338,186/327	2086466	1,12377	2024	4165	6189	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086466G>A	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.556G>A	16.37:g.2086466G>A	ENSP00000408005:p.Ala186Thr					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T	p.A186T	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	694	+			186			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.556G>A	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.295508	0.23564	0.0	1.2E-4	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.29142	1.58;1.58	4.58	3.52	0.40303	PDZ/DHR/GLGF (4);	0.308253	0.34025	N	0.004336	T	0.42337	0.1198	M	0.85859	2.78	0.09310	N	0.999997	P;B;P	0.43633	0.813;0.041;0.683	B;B;B	0.43658	0.426;0.017;0.212	T	0.41627	-0.9498	10	0.59425	D	0.04	-9.3204	12.041	0.53452	0.0:0.0:0.6142:0.3858	.	221;186;186	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	T	186	ENSP00000408005:A186T;ENSP00000402857:A186T	ENSP00000408005:A186T	A	+	1	0	SLC9A3R2	2026467	0.941000	0.31946	0.771000	0.31576	0.005000	0.04900	3.134000	0.50538	0.699000	0.31761	0.306000	0.20318	GCC		0.697	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			20	71	0	0	0	0.608945	0	20	71					A	2086466	G	A	2086466	3	1	62	1	0	0	0	0	1	0	0	0	14765	1087	38	1	566	1	SLC9A3R2	16	2086466	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		2086466	88268287	43	7500											
GPT2	84706	broad.mit.edu	37	chr16	46956249	46956249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcggtgcgcctgtgcccccCagtgtctgggcaggccgcca	15	16	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:46956249C>A	ENST00000340124.4	+	9	1245	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	GPT2_ENST00000440783.2_Missense_Mutation_p.P278Q	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	378					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTGTGCCCCCCAGTGTCTGGG	0.607																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(832-834)cCa>cAa		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						87	75	79					16																	46956249		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46956249C>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1133C>A	16.37:g.46956249C>A	ENSP00000345282:p.Pro378Gln					GPT2_ENST00000340124.4_Missense_Mutation_p.P378Q	p.P278Q	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			9	1498	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	378					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.833C>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225738	0.79576	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;T	0.91351	-2.83;1.79	5.07	5.07	0.68467	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.92923	3.36	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	D	0.96651	0.9481	10	0.54805	T	0.06	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	378	Q8TD30	ALAT2_HUMAN	Q	378;278	ENSP00000345282:P378Q;ENSP00000413804:P278Q	ENSP00000345282:P378Q	P	+	2	0	GPT2	45513750	1.000000	0.71417	0.889000	0.34880	0.490000	0.33462	7.687000	0.84139	2.525000	0.85131	0.462000	0.41574	CCA		0.607	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			160	491	1	0	3.12418e-63	0.870114	3.47521e-63	160	491					A	46956249	C	A	46956249	3	1	62	1	0	0	0	0	1	0	0	0	6768	594	21	3	1163	3	GPT2	16	46956249	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	44869783	46956249	43398504	44	7501											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	156	0	0	0	0.870114	0	67	156					T	7577538	C	T	7577538	3	4	62	1	0	0	0	0	1	0	0	0	16434	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		7577538	73617672	45	7502											
SUZ12	23512	broad.mit.edu	37	chr17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccagccagaagaaaaCgaaatcgtgaggatggggaa	13	7	0	3	rs372162318		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R286*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(856-858)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							82	80	81					17																	30303572		2203	4300	6503	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30303572C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.856C>T	17.37:g.30303572C>T	ENSP00000316578:p.Arg286*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	p.R286*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			8	1085	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	286					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.856C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852282	0.97885	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.208	13.7539	0.62923	0.1543:0.8457:0.0:0.0	.	.	.	.	X	286	.	ENSP00000316578:R286X	R	+	1	2	SUZ12	27327685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.451000	0.44952	2.257000	0.74773	0.603000	0.83216	CGA		0.343	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		5	186	0	0	0	0.217242	0	5	186					T	30303572	C	T	30303572	4	4	62	1	0	0	0	0	0	1	0	0	15468	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	22726034	30303572	50891638	46	7503											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	26	10	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(565-567)gAc>gCc		growth arrest-specific 2 like 2							20	26	24					17																	34077157		2188	4280	6468	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077157T>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala					GAS2L2_ENST00000587565.1_Intron	p.D189A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	593	-		Ovarian(249;0.17)	189					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.566A>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC		0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		23	363	0	0	0	0.796494	0	23	363					G	34077157	T	G	34077157	3	3	62	1	0	0	0	0	1	0	0	0	6275	1667	58	4	2096	4	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	3773585	34077157	47118053	47	7504											
KRT39	390792	broad.mit.edu	37	chr17	39122914	39122914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagatgggcttgcgacaAaagcgaggagtgggttggca	18	5	0	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:39122914A>G	ENST00000355612.2	-	1	230	c.195T>C	c.(193-195)ttT>ttC	p.F65F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	65	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCTTGCGACAAAAGCGAGGAG	0.522																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(193-195)ttT>ttC		keratin 39							191	194	193					17																	39122914		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39122914A>G	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.195T>C	17.37:g.39122914A>G						AC004231.2_ENST00000418393.1_RNA	p.F65F	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	230	-		Breast(137;0.00043)|Ovarian(249;0.15)	65			Head.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.195T>C	CCDS11382.1																																																																																				0.522	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		214	753	0	0	0	0.870114	0	214	753					G	39122914	A	G	39122914	2	3	62	1	0	0	0	0	0	0	0	1	8506	11	1	4		4	KRT39	17	39122914	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	5045757	39122914	42072296	48	7505											
ZNF428	126299	broad.mit.edu	37	chr19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-													aggttccctcctcctcctctTcctcctcctcctcccgccca							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																						ENST00000300811.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(457-462)gaa>ga		zinc finger protein 428																																				SO:0001651	inframe_deletion	126299					intracellular	zinc ion binding	g.chr19:44111875_44111877delTCC	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del					SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	p.EE157del	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN			3	905_907	-		Prostate(69;0.0153)	157			Glu-rich.		O95054|Q6X3Y3	In_Frame_Del	DEL	ENST00000300811.3	37	c.459_461delGGA	CCDS12626.1																																																																																				0.66	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		7	189						7	189	---	---	---	---	-	44111877	TCC	-	44111875	7	5	62	1	0	1	0	1	0	0	0	0	17954	1783	62	0	109	0	ZNF428	19	44111875	In_Frame_Del	DEL	TCC	TCGA-FZ-5924-01A-13D-1609-08		44111875	15017108	49	7506											
SLC8A2	6543	broad.mit.edu	37	chr19	47935504	47935507	+	Frame_Shift_Del	DEL	GCGA	GCGA	-													cggtgcagccgaagtgggagGcgaggtccccaatgagggcg							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:47935504_47935507delGCGA	ENST00000236877.6	-	9	2701_2704	c.2306_2309delTCGC	c.(2305-2310)ctcgccfs	p.LA769fs	SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	769					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GAAGTGGGAGGCGAGGTCCCCAAT	0.623																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2305-2310)ccfs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935504_47935507delGCGA	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2306_2309delTCGC	19.37:g.47935504_47935507delGCGA	ENSP00000236877:p.Leu769fs					SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs	p.LA769fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2701_2704	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	769					B4DYQ9	Frame_Shift_Del	DEL	ENST00000236877.6	37	c.2306_2309delTCGC	CCDS33065.1																																																																																				0.623	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			97	337						97	337	---	---	---	---	-	47935507	GCGA	-	47935504	7	5	62	1	0	1	0	1	0	0	0	0	14757	1203	42	0	464	0	SLC8A2	19	47935504	Frame_Shift_Del	DEL	GCGA	TCGA-FZ-5924-01A-13D-1609-08	3823629	47935504	11193479	50	7507											
HRC	3270	broad.mit.edu	37	chr19	49658442	49658442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggggggaggagcaggctgGccaccccagcccagaggaca	17	14	0	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:49658442G>T	ENST00000252825.4	-	1	239	c.53C>A	c.(52-54)gCc>gAc	p.A18D	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.A18D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	18					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGCAGGCTGGCCACCCCAGC	0.667																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(52-54)gCc>gAc		histidine rich calcium binding protein							34	37	36					19																	49658442		2203	4299	6502	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658442G>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.53C>A	19.37:g.49658442G>T	ENSP00000252825:p.Ala18Asp					HRC_ENST00000595625.1_Missense_Mutation_p.A18D	p.A18D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	239	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	18					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.53C>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104823	0.56291	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.48522	0.81	3.48	1.29	0.21616	.	.	.	.	.	T	0.52996	0.1769	M	0.64997	1.995	0.09310	N	0.999999	D	0.64830	0.994	P	0.56343	0.796	T	0.41945	-0.9480	9	0.87932	D	0	-3.1555	3.8354	0.08891	0.2322:0.2024:0.5654:0.0	.	18	P23327	SRCH_HUMAN	D	18	ENSP00000252825:A18D	ENSP00000252825:A18D	A	-	2	0	HRC	54350254	0.999000	0.42202	0.131000	0.22000	0.898000	0.52572	0.374000	0.20501	0.443000	0.26582	0.561000	0.74099	GCC		0.667	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		107	313	1	0	4.22592e-57	0.870114	4.64852e-57	107	313					T	49658442	G	T	49658442	3	4	62	1	0	0	0	0	1	0	0	0	7382	1203	42	3	2070	3	HRC	19	49658442	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	1722938	49658442	9470541	51	7508											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	724						8	724	---	---	---	---	-	54675749	TCC	-	54675747	7	5	62	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-FZ-5924-01A-13D-1609-08	5017305	54675747	4453236	52	7509											
SNAP25	6616	broad.mit.edu	37	chr20	10273541	10273541	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctaaccagaacaactcgatCgtgtcgaagaaggcatgaac	9	11	0	3	rs146976467		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr20:10273541C>T	ENST00000254976.2	+	5	374				SNAP25_ENST00000304886.2_Missense_Mutation_p.R59C|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.R59C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACAACTCGATCGTGTCGAAGA	0.403																																						ENST00000304886.2																			1	Substitution - Missense(1)	p.R59C(1)	skin(1)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(175-177)Cgt>Tgt		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						107	101	103					20																	10273541		2203	4300	6503	SO:0001627	intron_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273541C>T		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-268C>T	20.37:g.10273541C>T						SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	p.R59C	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN			5	383	+			59			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.175C>T	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555852	0.65425	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	D	0.84224	0.5425	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84394	0.0556	7	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	59	P60880-2	.	C	59	.	ENSP00000307341:R59C	R	+	1	0	SNAP25	10221541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.937000	0.99478	0.650000	0.86243	CGT		0.403	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		94	344	0	0	0	0.870114	0	94	344					T	10273541	C	T	10273541	1	4	62	0	1	0	0	0	0	0	0	0	14880	884	31	1		1	SNAP25	20	10273541	Intron	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		10273541	52751979	53	7510											
COL6A1	1291	broad.mit.edu	37	chr21	47422162	47422162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcagtggatggcgggCggcaccttcacgggggaggc	19	11	1	0	rs537366421		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr21:47422162C>T	ENST00000361866.3	+	32	2211	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	699	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGATGGCGGGCGGCACCTTCA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14742	0.0		0.0	False		,,,				2504	0.001					ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2095-2097)ggC>ggT		collagen, type VI, alpha 1	Palifermin(DB00039)						11	11	11					21																	47422162		2160	4264	6424	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422162C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2097C>T	21.37:g.47422162C>T						COL6A1_ENST00000498614.1_3'UTR	p.G699G	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2211	+	all_hematologic(128;0.24)		699			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2097C>T	CCDS13727.1																																																																																				0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		21	54	0	0	0	0.592651	0	21	54					T	47422162	C	T	47422162	2	4	62	1	0	0	0	0	0	0	0	1	3708	755	27	1		1	COL6A1	21	47422162	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		47422162	707733	54	7511											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	97						7	97	---	---	---	---	-	47030563	GGA	-	47030561	7	5	62	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-FZ-5924-01A-13D-1609-08		47030561	108239999	55	7512											
SLC35A2	7355	broad.mit.edu	37	chrX	48761886	48761886	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagtgacctgggagaaaaGaccatctcccaaacccagag	9	13	2	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:48761886G>A	ENST00000247138.5	-	4	1167				SLC35A2_ENST00000445167.2_Missense_Mutation_p.S237F|SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000376521.1_3'UTR	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2						galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TGGGAGAAAAGACCATCTCCC	0.642																																						ENST00000445167.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(709-711)tCt>tTt		solute carrier family 35 (UDP-galactose transporter), member A2							18	16	17					X																	48761886		2198	4295	6493	SO:0001627	intron_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48761886G>A	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1163+136C>T	X.37:g.48761886G>A						SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000247138.5_Intron|SLC35A2_ENST00000376521.1_3'UTR|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000376529.3_Intron	p.S237F	NM_001032289.1	NP_001027460.1	P78381	S35A2_HUMAN			4	729	-			36					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.710C>T	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	G	0.577	-0.838599	0.02692	.	.	ENSG00000102100	ENST00000445167;ENST00000376515	.	.	.	3.75	-0.97	0.10306	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	8	0.87932	D	0	.	0.4415	0.00487	0.3116:0.1803:0.3211:0.187	.	237	P78381-3	.	F	237;213	.	ENSP00000365698:S213F	S	-	2	0	SLC35A2	48646830	0.087000	0.21565	0.009000	0.14445	0.122000	0.20287	-0.199000	0.09491	-0.367000	0.08052	0.600000	0.82982	TCT		0.642	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		27	19	0	0	0	0.706142	0	27	19					A	48761886	G	A	48761886	1	1	62	0	1	0	0	0	0	0	0	0	14621	942	33	2		2	SLC35A2	23	48761886	Intron	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	1731325	48761886	106508674	56	7513											
ZMYM3	9203	broad.mit.edu	37	chrX	70472554	70472555	+	Frame_Shift_Ins	INS	-	-	A													gcggggcatttgggctctgtINSggctgcccttggggaagctc							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:70472554_70472555insA	ENST00000353904.2	-	2	738_739	c.551_552insT	c.(550-552)ccafs	p.P184fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	184					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGGGCTCTGTGGCTGCCCTTG	0.604																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(550-552)ccafs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472554_70472555insA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.551_552insT	X.37:g.70472554_70472555insA	ENSP00000343909:p.Pro184fs					ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs	p.P184fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			2	1248_1249	-	Renal(35;0.156)		184					D3DVV3|O15089|Q96E26	Frame_Shift_Ins	INS	ENST00000353904.2	37	c.551_552insT	CCDS14409.1																																																																																				0.604	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		114	137						114	137	---	---	---	---	A	70472555	-	A	70472554	7	5	62	1	0	1	1	0	0	0	0	0	17754	1683	59	0	3674	0	ZMYM3	23	70472554	Frame_Shift_Ins	INS	-	TCGA-FZ-5924-01A-13D-1609-08	21710668	70472554	84798006	57	7514											
MMEL1	79258	broad.mit.edu	37	chr1	2530110	2530110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctggctgagtaggtgtcGatgatgttttcaaggttctg	13	7	2	2	rs368809746		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:2530110G>A	ENST00000378412.3	-	12	1322	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	MMEL1_ENST00000288709.6_Silent_p.I378I|MMEL1_ENST00000502556.1_Silent_p.I230I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	387						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGTAGGTGTCGATGATGTTTT	0.542																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1132-1134)atC>atT		membrane metallo-endopeptidase-like 1		G		1,4405	2.1+/-5.4	0,1,2202	135	125	128		1161	-2.3	0	1		128	0,8600		0,0,4300	no	coding-synonymous	MMEL1	NM_033467.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		387/780	2530110	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2530110G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1161C>T	1.37:g.2530110G>A						MMEL1_ENST00000502556.1_Silent_p.I230I|MMEL1_ENST00000378412.3_Silent_p.I387I	p.I378I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	12	1374	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	387					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1134C>T	CCDS30569.2																																																																																				0.542	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		27	313	0	0	0	0.681144	0	27	313					A	2530110	G	A	2530110	2	1	63	1	0	0	0	0	0	0	0	1	9687	1048	37	1		1	MMEL1	1	2530110	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		2530110	246720511	1	7515											
UBR4	23352	broad.mit.edu	37	chr1	19455510	19455510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggacaccgccaacgtttcGtaattgaggcagggtctgca	12	12	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:19455510G>A	ENST00000375254.3	-	61	8992	c.8965C>T	c.(8965-8967)Cga>Tga	p.R2989*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2989					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAACGTTTCGTAATTGAGGC	0.502																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8965-8967)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 4							146	122	130					1																	19455510		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19455510G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8965C>T	1.37:g.19455510G>A	ENSP00000364403:p.Arg2989*					UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*	p.R2989*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	61	8968	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2989					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.8965C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	41	9.027136	0.99040	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.43	4.51	0.55191	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	13.3492	0.60593	0.0:0.0:0.6586:0.3414	.	.	.	.	X	2989;2989;2982;2965;597;1675	.	ENSP00000364365:R2982X	R	-	1	2	UBR4	19328097	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	4.918000	0.63376	1.256000	0.44068	0.467000	0.42956	CGA		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		23	433	0	0	0	0.639603	0	23	433					A	19455510	G	A	19455510	4	1	63	1	0	0	0	0	0	1	0	0	16958	1153	40	1	6770	1	UBR4	1	19455510	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	16925400	19455510	229795111	2	7516											
CSMD2	114784	broad.mit.edu	37	chr1	34209014	34209014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaggacgggcgcctcGgcggtggccccatccttgat	15	15	0	1	rs547519483		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:34209014G>A	ENST00000373381.4	-	14	2216	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				CGGGCGCCTCGGCGGTGGCCC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17698	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				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						c.(2038-2040)gcC>gcT		CUB and Sushi multiple domains 2							68	68	68					1																	34209014		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209014G>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	ENST00000373381.4:c.2040C>T	1.37:g.34209014G>A							p.A680A	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2216	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	640			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2040C>T																																																																																					0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	401	0	0	0	0.769981	0	33	401					A	34209014	G	A	34209014	2	1	63	1	0	0	0	0	0	0	0	1	3956	1103	39	1		1	CSMD2	1	34209014	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14753504	34209014	215041607	3	7517											
C8A	731	broad.mit.edu	37	chr1	57378141	57378141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggccaagcgccagaaCctgcgccgcgccttggacca	13	16	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:57378141C>A	ENST00000361249.3	+	10	1542	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	482	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCGCCAGAACCTGCGCCGCG	0.622																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1444-1446)aaC>aaA		complement component 8, alpha polypeptide							63	66	65					1																	57378141		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378141C>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1446C>A	1.37:g.57378141C>A	ENSP00000354458:p.Asn482Lys						p.N482K	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1542	+			482			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1446C>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892211	0.72524	.	.	ENSG00000157131	ENST00000361249	D	0.84800	-1.9	5.73	3.82	0.43975	Membrane attack complex component/perforin (MACPF) domain (3);	0.458515	0.26847	N	0.022186	D	0.92388	0.7584	M	0.90542	3.125	0.48135	D	0.99959	D	0.89917	1.0	D	0.75484	0.986	D	0.91566	0.5268	10	0.62326	D	0.03	-31.1725	9.0762	0.36522	0.1463:0.7801:0.0:0.0736	.	482	P07357	CO8A_HUMAN	K	482	ENSP00000354458:N482K	ENSP00000354458:N482K	N	+	3	2	C8A	57150729	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	4.273000	0.58914	0.734000	0.32515	0.655000	0.94253	AAC		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		14	494	1	0	1.49906e-05	0.457914	1.56798e-05	14	494					A	57378141	C	A	57378141	3	1	63	1	0	0	0	0	1	0	0	0	2423	506	18	3	1484	3	C8A	1	57378141	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	23169127	57378141	191872480	4	7518											
HFM1	164045	broad.mit.edu	37	chr1	91851171	91851171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcaactgaaaaagatgGtgctttgaacatgccttctc	9	8	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:91851171G>T	ENST00000370425.3	-	5	813	c.715C>A	c.(715-717)Cca>Aca	p.P239T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	239					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAAAAAGATGGTGCTTTGAAC	0.338																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(715-717)Cca>Aca		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							74	72	73					1																	91851171		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851171G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.715C>A	1.37:g.91851171G>T	ENSP00000359454:p.Pro239Thr					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.P239T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	813	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	239					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.715C>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	g	9.857	1.195255	0.22037	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.59083	0.29	5.71	1.7	0.24286	.	30.057400	0.01273	U	0.009505	T	0.29158	0.0725	L	0.50333	1.59	0.20563	N	0.999885	B;B	0.30763	0.294;0.183	B;B	0.24974	0.057;0.039	T	0.07654	-1.0761	10	0.30854	T	0.27	.	7.7739	0.29026	0.4413:0.0:0.5587:0.0	.	239;239	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	239;272;98	ENSP00000359454:P239T	ENSP00000359454:P239T	P	-	1	0	HFM1	91623759	0.111000	0.22076	0.036000	0.18154	0.729000	0.41735	0.342000	0.19926	0.063000	0.16370	-0.119000	0.15052	CCA		0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	272	1	0	0.000442599	0.335167	0.000457688	9	272					T	91851171	G	T	91851171	3	4	63	1	0	0	0	0	1	0	0	0	7113	1261	44	3	3732	3	HFM1	1	91851171	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	34473030	91851171	157399450	5	7519											
SPAG17	200162	broad.mit.edu	37	chr1	118535130	118535130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcacctcattctttaTgacctcatgctgaatgaatt	5	10	4	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:118535130T>G	ENST00000336338.5	-	36	5385	c.5320A>C	c.(5320-5322)Ata>Cta	p.I1774L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1774						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		TCATTCTTTATGACCTCATGC	0.473																																						ENST00000336338.5																			0				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						c.(5320-5322)Ata>Cta		sperm associated antigen 17							114	111	112					1																	118535130		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118535130T>G		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.5320A>C	1.37:g.118535130T>G	ENSP00000337804:p.Ile1774Leu						p.I1774L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	36	5385	-	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)	1774					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5320A>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640522	0.47153	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19105	2.17	5.38	4.24	0.50183	.	0.209828	0.49916	D	0.000132	T	0.05135	0.0137	L	0.39085	1.19	0.28514	N	0.913392	B	0.13594	0.008	B	0.14578	0.011	T	0.38351	-0.9665	10	0.11182	T	0.66	.	10.8358	0.46685	0.1417:0.0:0.0:0.8583	.	1774	Q6Q759	SPG17_HUMAN	L	1774;254	ENSP00000337804:I1774L	ENSP00000337804:I1774L	I	-	1	0	SPAG17	118336653	1.000000	0.71417	0.971000	0.41717	0.944000	0.59088	1.938000	0.40203	0.854000	0.35336	0.533000	0.62120	ATA		0.473	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		13	547	0	0	0	0.457914	0	13	547					G	118535130	T	G	118535130	3	3	63	1	0	0	0	0	1	0	0	0	15031	1464	51	4	1403	4	SPAG17	1	118535130	Missense_Mutation	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	26683959	118535130	130715491	6	7520											
RGS21	431704	broad.mit.edu	37	chr1	192321195	192321195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtctagatgcttttcGaatatttctaaaatcagagt	8	6	3	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:192321195G>A	ENST00000417209.2	+	4	281	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	36	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATGCTTTTCGAATATTTCTA	0.299																																						ENST00000417209.2																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(106-108)cGa>cAa		regulator of G-protein signaling 21							56	53	54					1																	192321195		1801	4075	5876	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321195G>A	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.107G>A	1.37:g.192321195G>A	ENSP00000428343:p.Arg36Gln						p.R36Q	NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN			4	281	+			36			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.107G>A	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731842	0.48939	.	.	ENSG00000253148	ENST00000417209	T	0.02345	4.33	5.77	4.85	0.62838	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.31859	U	0.006944	T	0.04092	0.0114	L	0.49513	1.565	0.30984	N	0.722202	B	0.27823	0.19	B	0.22152	0.038	T	0.04678	-1.0934	10	0.34782	T	0.22	.	13.7828	0.63091	0.0749:0.0:0.9251:0.0	.	36	Q2M5E4	RGS21_HUMAN	Q	36	ENSP00000428343:R36Q	ENSP00000428343:R36Q	R	+	2	0	RGS21	190587818	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.432000	0.52824	1.439000	0.47511	0.557000	0.71058	CGA		0.299	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			17	158	0	0	0	0.575678	0	17	158					A	192321195	G	A	192321195	3	1	63	1	0	0	0	0	1	0	0	0	13354	1058	37	1	117	1	RGS21	1	192321195	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	73786065	192321195	56929426	7	7521											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	457						8	457	---	---	---	---	-	26693556	CTT	-	26693554	7	5	63	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FZ-5926-01A-11D-1609-08		26693554	216505819	8	7522											
GAD1	2571	broad.mit.edu	37	chr2	171702549	171702549	+	Frame_Shift_Del	DEL	A	A	-													attccagctgattttgaggcAaaaattcttgaagccaaaca							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:171702549delA	ENST00000358196.3	+	10	1528	c.978delA	c.(976-978)gcafs	p.A326fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	326					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATTTTGAGGCAAAAATTCTTG	0.353																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(976-978)gcfs		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						62	66	65					2																	171702549		2203	4300	6503	SO:0001589	frameshift_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702549delA		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.978delA	2.37:g.171702549delA	ENSP00000350928:p.Ala326fs						p.A326fs	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			10	1528	+			326					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Frame_Shift_Del	DEL	ENST00000358196.3	37	c.978delA	CCDS2239.1																																																																																				0.353	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			7	476						7	476	---	---	---	---	-	171702549	A	-	171702549	7	5	63	1	0	1	0	1	0	0	0	0	6206	117	5	0	1053	0	GAD1	2	171702549	Frame_Shift_Del	DEL	A	TCGA-FZ-5926-01A-11D-1609-08	145008995	171702549	71496824	9	7523											
TTC30A	92104	broad.mit.edu	37	chr2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagccctcggtggtcatgCccacacctagctcaggatgc	10	15	2	0	rs576095208		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:178482747C>T	ENST00000355689.5	-	1	947	c.683G>A	c.(682-684)gGc>gAc	p.G228D	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(682-684)gGc>gAc		tetratricopeptide repeat domain 30A							80	78	79					2																	178482747		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482747C>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.683G>A	2.37:g.178482747C>T	ENSP00000347915:p.Gly228Asp					AC073834.3_ENST00000357045.4_RNA	p.G228D	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	947	-			228					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.683G>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365539	0.82463	.	.	ENSG00000197557	ENST00000355689	T	0.25085	1.82	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71902	-0.4452	10	0.87932	D	0	.	20.0827	0.97786	0.0:1.0:0.0:0.0	.	228	Q86WT1	TT30A_HUMAN	D	228	ENSP00000347915:G228D	ENSP00000347915:G228D	G	-	2	0	TTC30A	178190993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.826000	0.69293	2.755000	0.94549	0.549000	0.68633	GGC		0.527	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	302	0	0	0	0.217242	0	5	302					T	178482747	C	T	178482747	3	4	63	1	0	0	0	0	1	0	0	0	16752	739	26	2	1318	2	TTC30A	2	178482747	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	6780198	178482747	64716626	10	7524											
DFNB59	494513	broad.mit.edu	37	chr2	179319081	179319081	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttcatcttatcaattactGaattatgaagatgaatcaga	5	5	4	5			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179319081G>C	ENST00000409117.3	+	3	590	c.234G>C	c.(232-234)ctG>ctC	p.L78L	DFNB59_ENST00000375129.4_Silent_p.L78L|PRKRA_ENST00000470200.1_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	78					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAATTACTGAATTATGAAG	0.299																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(232-234)ctG>ctC		deafness, autosomal recessive 59							77	74	75					2																	179319081		1829	4082	5911	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179319081G>C	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.234G>C	2.37:g.179319081G>C						DFNB59_ENST00000375129.4_Silent_p.L78L	p.L78L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	590	+			78					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.234G>C	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857360	0.17106	.	.	ENSG00000204311	ENST00000442710	.	.	.	5.97	5.1	0.69264	.	.	.	.	.	T	0.63390	0.2507	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62181	-0.6908	4	.	.	.	-4.9701	11.6167	0.51094	0.0694:0.1332:0.7975:0.0	.	.	.	.	Q	26	.	.	E	+	1	0	DFNB59	179027327	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.442000	0.21628	1.525000	0.49052	0.655000	0.94253	GAA		0.299	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			18	328	0	0	0	0.592651	0	18	328					C	179319081	G	C	179319081	2	2	63	1	0	0	0	0	0	0	0	1	4472	1277	45	5		5	DFNB59	2	179319081	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	836334	179319081	63880292	11	7525											
TTN	7273	broad.mit.edu	37	chr2	179569272	179569272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgctagcgatgtgtggaCcacaaaccaatcgataattg	10	9	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179569272C>T	ENST00000591111.1	-	103	29200	c.28976G>A	c.(28975-28977)gGt>gAt	p.G9659D	TTN_ENST00000589042.1_Missense_Mutation_p.G9976D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13735					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGTGGACCACAAACCAA	0.383																																						ENST00000589042.1																			0				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						c.(29926-29928)gGt>gAt		titin							95	88	91					2																	179569272		1898	4111	6009	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569272C>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.28976G>A	2.37:g.179569272C>T	ENSP00000465570:p.Gly9659Asp					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9659D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN-AS1_ENST00000585451.1_RNA	p.G9976D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	30151	-			9659			Glu-rich.		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.29927G>A		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189485	0.57909	.	.	ENSG00000155657	ENST00000342992	T	0.59224	0.28	5.75	5.75	0.90469	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77198	0.4095	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	9659	Q8WZ42	TITIN_HUMAN	D	8732	ENSP00000343764:G8732D	ENSP00000343764:G8732D	G	-	2	0	TTN	179277517	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	185	0	0	0	0.27861	0	8	185					T	179569272	C	T	179569272	3	4	63	1	0	0	0	0	1	0	0	0	16789	507	18	2	74634	2	TTN	2	179569272	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	250191	179569272	63630101	12	7526											
TFPI	7035	broad.mit.edu	37	chr2	188343525	188343525	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatcatttgttccttcttTtgtaactgtggatcacaaaa	5	9	3	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:188343525T>C	ENST00000233156.3	-	6	923				AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.K212E|TFPI_ENST00000339091.4_Missense_Mutation_p.K212E|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	GTTCCTTCTTTTGTAACTGTG	0.378																																						ENST00000409676.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(634-636)Aaa>Gaa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						128	114	119					2																	188343525		2203	4300	6503	SO:0001627	intron_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188343525T>C		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5325A>G	2.37:g.188343525T>C						AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.K212E	p.K212E			P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	898	-			0					O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.634A>G	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516209	0.64634	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.65732	-0.17;-0.17	4.72	3.52	0.40303	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	P	0.40731	0.728	B	0.36666	0.23	T	0.15752	-1.0426	8	0.15066	T	0.55	.	9.3735	0.38268	0.0:0.0:0.3816:0.6184	.	212	P10646-2	.	E	212	ENSP00000386344:K212E;ENSP00000342306:K212E	ENSP00000342306:K212E	K	-	1	0	TFPI	188051770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.937000	0.40193	0.607000	0.29982	0.455000	0.32223	AAA		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		20	190	0	0	0	0.639603	0	20	190					C	188343525	T	C	188343525	1	2	63	0	1	0	0	0	0	0	0	0	15860	1850	64	4		4	TFPI	2	188343525	Intron	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	8774253	188343525	54855848	13	7527											
ULK4	54986	broad.mit.edu	37	chr3	41504591	41504591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctacctgcaaagccagcCgtacaataccggaggtatag	9	13	1	0	rs374410332		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:41504591C>A	ENST00000301831.4	-	33	3842	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1127					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAAGCCAGCCGTACAATACC	0.443																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(3379-3381)cGg>cTg		unc-51 like kinase 4							122	119	120					3																	41504591		1958	4170	6128	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41504591C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3380G>T	3.37:g.41504591C>A	ENSP00000301831:p.Arg1127Leu						p.R1127L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	33	3842	-			1127					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3380G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718246	0.48622	.	.	ENSG00000168038	ENST00000301831	T	0.56941	0.43	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.137222	0.27591	U	0.018692	T	0.67515	0.2901	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.71613	-0.4540	10	0.87932	D	0	.	17.7419	0.88409	0.0:1.0:0.0:0.0	.	1127	Q96C45	ULK4_HUMAN	L	1127	ENSP00000301831:R1127L	ENSP00000301831:R1127L	R	-	2	0	ULK4	41479595	1.000000	0.71417	0.302000	0.25058	0.096000	0.18686	5.658000	0.68003	2.187000	0.69744	0.491000	0.48974	CGG		0.443	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		33	347	1	0	6.00712e-18	0.760397	6.8331e-18	33	347					A	41504591	C	A	41504591	3	1	63	1	0	0	0	0	1	0	0	0	17032	652	23	3	467	3	ULK4	3	41504591	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		41504591	156517839	14	7528											
C3orf63	23272	broad.mit.edu	37	chr3	56662562	56662562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttcattttgaataataatCaatagtttatctaattttga	3	4	4	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:56662562C>T	ENST00000493960.2	-	19	3838	c.3828G>A	c.(3826-3828)ttG>ttA	p.L1276L	FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000355628.5_Silent_p.L1215L|FAM208A_ENST00000431842.2_Silent_p.L839L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1276							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATAATAATCAATAGTTTAT	0.274																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2515-2517)ttG>ttA		family with sequence similarity 208, member A							63	68	66					3																	56662562		2198	4293	6491	SO:0001819	synonymous_variant	23272							g.chr3:56662562C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3828G>A	3.37:g.56662562C>T						FAM208A_ENST00000355628.5_Silent_p.L1215L|FAM208A_ENST00000493960.2_Silent_p.L1276L	p.L839L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			12	3441	-			1276					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.2517G>A	CCDS46853.1																																																																																				0.274	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		18	197	0	0	0	0.539581	0	18	197					T	56662562	C	T	56662562	2	4	63	1	0	0	0	0	0	0	0	1	2246	825	29	2		2	C3orf63	3	56662562	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	15157971	56662562	141359868	15	7529											
KALRN	8997	broad.mit.edu	37	chr3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcagttggctcagaCgggggaatgtgaccccgagg	17	9	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:124103747C>T	ENST00000240874.3	+	11	1977	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000360013.3_Missense_Mutation_p.T607M|KALRN_ENST00000460856.1_Missense_Mutation_p.T607M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1819-1821)aCg>aTg		kalirin, RhoGEF kinase							99	83	88					3																	124103747		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103747C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1820C>T	3.37:g.124103747C>T	ENSP00000240874:p.Thr607Met					KALRN_ENST00000460856.1_Missense_Mutation_p.T607M|KALRN_ENST00000240874.3_Missense_Mutation_p.T607M	p.T607M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	1947	+			607					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1820C>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.881079|4.881079	0.91740|0.91740	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.47177	.|0.85;0.85;0.95;0.85	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65354|0.65354	0.2683|0.2683	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.982;0.998;0.969	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.87932	.|D	.|0	.|.	18.7751|18.7751	0.91908|0.91908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|607;607;607	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	W|M	585|607;607;607;83	.|ENSP00000418611:T607M;ENSP00000240874:T607M;ENSP00000353109:T607M;ENSP00000402950:T83M	.|ENSP00000240874:T607M	R|T	+|+	1|2	2|0	KALRN|KALRN	125586437|125586437	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	7.606000|7.606000	0.82863|0.82863	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		12	384	0	0	0	0.38729	0	12	384					T	124103747	C	T	124103747	3	4	63	1	0	0	0	0	1	0	0	0	8005	536	19	1	1862	1	KALRN	3	124103747	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	67441185	124103747	73918683	16	7530											
EPHA5	2044	broad.mit.edu	37	chr4	66197831	66197831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagtgggctatgttctgcCaataaattagatactctaaa	7	8	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:66197831C>A	ENST00000273854.3	-	17	3468	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F|EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	956					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)			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						TATGTTCTGCCAATAAATTAG	0.323										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(2866-2868)ttG>ttT		EPH receptor A5							54	49	51					4																	66197831		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197831C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2868G>T	4.37:g.66197831C>A	ENSP00000273854:p.Leu956Phe	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F	p.L956F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3468	-			956					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2868G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235612	0.22626	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.75477	-0.94;-0.91;-0.92;-0.9	5.38	3.63	0.41609	.	0.137810	0.32987	N	0.005409	D	0.82472	0.5044	M	0.71581	2.175	0.42068	D	0.99119	D;D;D;D	0.76494	0.983;0.999;0.99;0.959	B;D;P;B	0.68765	0.425;0.96;0.629;0.274	T	0.83227	-0.0065	10	0.54805	T	0.06	.	10.2379	0.43294	0.0:0.7881:0.0:0.2119	.	935;957;934;956	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	956;793;934;957	ENSP00000273854:L956F;ENSP00000389208:L793F;ENSP00000346899:L934F;ENSP00000427638:L957F	ENSP00000273854:L956F	L	-	3	2	EPHA5	65880426	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	1.027000	0.30115	1.421000	0.47157	0.491000	0.48974	TTG		0.323	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		7	155	1	0	0.00198382	0.248553	0.00200586	7	155					A	66197831	C	A	66197831	3	1	63	1	0	0	0	0	1	0	0	0	5188	593	21	3	253	3	EPHA5	4	66197831	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		66197831	124956445	17	7531											
SCLT1	132320	broad.mit.edu	37	chr4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T													gaaaatacctttactttggcINSttttttttgagcctccaggg							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaagccfs	p.A541fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	541					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1623)aaccaafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864162_129864163insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1621dupA	4.37:g.129864170_129864170dupT	ENSP00000281142:p.Ala541fs					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	p.NQ540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123_2124	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.1620_1621insA	CCDS3740.1																																																																																				0.356	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	649						7	649	---	---	---	---	T	129864163	-	T	129864162	7	5	63	1	0	1	1	0	0	0	0	0	13956	797	28	0	465	0	SCLT1	4	129864162	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	63666331	129864162	61290114	18	7532											
NR2F1	7025	broad.mit.edu	37	chr5	92923762	92923762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagccctaccccacgtcGcgctacggcagccagtgcat	11	18	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:92923762G>A	ENST00000327111.3	+	2	2290	c.603G>A	c.(601-603)tcG>tcA	p.S201S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	201					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACCCCACGTCGCGCTACGGCA	0.667																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(601-603)tcG>tcA		nuclear receptor subfamily 2, group F, member 1							61	61	61					5																	92923762		2203	4299	6502	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923762G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.603G>A	5.37:g.92923762G>A							p.S201S	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2290	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	201						Silent	SNP	ENST00000327111.3	37	c.603G>A	CCDS4068.1																																																																																				0.667	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		14	393	0	0	0	0.520397	0	14	393					A	92923762	G	A	92923762	2	1	63	1	0	0	0	0	0	0	0	1	10669	1074	38	1		1	NR2F1	5	92923762	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		92923762	87991498	19	7533											
FBXW11	23291	broad.mit.edu	37	chr5	171303381	171303381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaaccaggacacggcGtaaagtgatgtcggtcgcag	15	10	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:171303381G>A	ENST00000265094.5	-	8	1203	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	FBXW11_ENST00000296933.6_Missense_Mutation_p.R343C|FBXW11_ENST00000425623.2_Missense_Mutation_p.R324C|FBXW11_ENST00000393802.2_Missense_Mutation_p.R322C|FBXW11_ENST00000522891.1_5'Flank	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	356					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGACACGGCGTAAAGTGATG	0.522																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1027-1029)Cgc>Tgc		F-box and WD repeat domain containing 11							112	78	89					5																	171303381		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171303381G>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1066C>T	5.37:g.171303381G>A	ENSP00000265094:p.Arg356Cys					FBXW11_ENST00000265094.5_Missense_Mutation_p.R356C|FBXW11_ENST00000425623.2_Missense_Mutation_p.R324C|FBXW11_ENST00000393802.2_Missense_Mutation_p.R322C	p.R343C	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1397	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	356					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1027C>T	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571419	0.86542	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.36157	1.27;2.21;1.27;1.27	5.29	4.42	0.53409	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	0.47340	0.1440	L	0.31157	0.91	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.73380	0.914;0.951;0.98;0.954	T	0.51116	-0.8746	10	0.87932	D	0	-10.1145	14.1428	0.65331	0.0732:0.0:0.9268:0.0	.	324;322;356;343	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	C	343;356;322;324	ENSP00000296933:R343C;ENSP00000265094:R356C;ENSP00000377391:R322C;ENSP00000444929:R324C	ENSP00000265094:R356C	R	-	1	0	FBXW11	171235986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.777000	0.85628	1.378000	0.46305	0.650000	0.86243	CGC		0.522	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		4	131	0	0	0	0.150653	0	4	131					A	171303381	G	A	171303381	3	1	63	1	0	0	0	0	1	0	0	0	5789	1145	40	1	582	1	FBXW11	5	171303381	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	78379619	171303381	9611879	20	7534											
TRIM40	135644	broad.mit.edu	37	chr6	30104878	30104878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgccaggagagcctgaAggaggccgtgagcaccaact	13	12	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:30104878A>G	ENST00000396581.1	+	2	451	c.65A>G	c.(64-66)aAg>aGg	p.K22R	TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	22					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGAGCCTGAAGGAGGCCGTG	0.602																																						ENST00000396581.1																			0				ovary(1)	1						c.(64-66)aAg>aGg		tripartite motif containing 40							89	71	78					6																	30104878		1510	2708	4218	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104878A>G	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.65A>G	6.37:g.30104878A>G	ENSP00000379826:p.Lys22Arg					TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR	p.K22R			Q6P9F5	TRI40_HUMAN			2	451	+			22					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.65A>G		.	.	.	.	.	.	.	.	.	.	A	13.79	2.340933	0.41498	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	D;D;D	0.83837	-1.77;-1.77;-1.77	4.81	1.02	0.19986	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.305411	0.23558	N	0.046897	T	0.50786	0.1636	N	0.11154	0.105	0.23563	N	0.997408	D;P	0.52996	0.957;0.905	P;B	0.55785	0.784;0.416	T	0.57906	-0.7730	10	0.07644	T	0.81	.	3.135	0.06436	0.5417:0.2213:0.237:0.0	.	22;22	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	R	22	ENSP00000379826:K22R;ENSP00000365914:K22R;ENSP00000308310:K22R	ENSP00000308310:K22R	K	+	2	0	TRIM40	30212857	0.827000	0.29292	0.985000	0.45067	0.943000	0.58893	0.053000	0.14184	0.315000	0.23110	0.467000	0.42956	AAG		0.602	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			8	290	0	0	0	0.27861	0	8	290					G	30104878	A	G	30104878	3	3	63	1	0	0	0	0	1	0	0	0	16568	72	3	4	67	4	TRIM40	6	30104878	Missense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		30104878	141010189	21	7535											
BAT2	7916	broad.mit.edu	37	chr6	31597456	31597457	+	Frame_Shift_Ins	INS	-	-	C													tgccagctccacaggctccaINScccccgccccccaaggccct							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:31597456_31597457insC	ENST00000376033.2	+	14	2322_2323	c.2088_2089insC	c.(2089-2091)cccfs	p.P697fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.P697fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	697	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2086-2091)ccccccfs		proline-rich coiled-coil 2A																																				SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31597456_31597457insC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2093dupC	6.37:g.31597461_31597461dupC	ENSP00000365201:p.Pro697fs					PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs	p.PP696fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			14	2322_2323	+			696			4 X 57 AA type A repeats.|Poly-Pro.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Ins	INS	ENST00000376033.2	37	c.2088_2089insC	CCDS4708.1																																																																																				0.649	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	153						8	153	---	---	---	---	C	31597457	-	C	31597456	7	5	63	1	0	1	1	0	0	0	0	0	1320	146	6	0	2138	0	BAT2	6	31597456	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	1492578	31597456	139517611	22	7536											
QKI	9444	broad.mit.edu	37	chr6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcgaaggcacgatatgCgtgtccatccttaccaaagg	10	10	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:163987788C>T	ENST00000361752.3	+	7	1521	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	QKI_ENST00000275262.7_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000361195.2_Missense_Mutation_p.R316C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	324					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCACGATATGCGTGTCCATCC	0.413																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(970-972)Cgt>Tgt		QKI, KH domain containing, RNA binding							132	111	118					6																	163987788		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163987788C>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.970C>T	6.37:g.163987788C>T	ENSP00000355094:p.Arg324Cys					QKI_ENST00000361195.2_Missense_Mutation_p.R316C|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR	p.R324C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	7	1521	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	324					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.970C>T	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.519896|2.519896	0.44866|0.44866	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000361752;ENST00000361195	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.101633	.|0.64402	.|D	.|0.000002	T|T	0.73337|0.73337	0.3574|0.3574	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.322	.|D;B	.|0.79108	.|0.992;0.041	T|T	0.74137|0.74137	-0.3762|-0.3762	5|9	.|0.87932	.|D	.|0	-1.504|-1.504	20.1358|20.1358	0.98028|0.98028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|316;324	.|Q96PU8-3;Q96PU8	.|.;QKI_HUMAN	V|C	220;157|324;316	.|.	.|ENSP00000354867:R316C	A|R	+|+	2|1	0|0	QKI|QKI	163907778|163907778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.833000|2.833000	0.97629|0.97629	0.585000|0.585000	0.79938|0.79938	GCG|CGT		0.413	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		10	156	0	0	0	0.361761	0	10	156					T	163987788	C	T	163987788	3	4	63	1	0	0	0	0	1	0	0	0	12923	768	27	1	1100	1	QKI	6	163987788	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	132390332	163987788	7127279	23	7537											
CPA2	1358	broad.mit.edu	37	chr7	129909574	129909574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagttcccttcgtcaaCgtccaggcagtcaaagtgtt	10	12	2	0	rs377057816	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:129909574C>T	ENST00000222481.4	+	3	274	c.219C>T	c.(217-219)aaC>aaT	p.N73N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	73					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCTTCGTCAACGTCCAGGCAG	0.502													C|||	5	0.000998403	0.0	0.0	5008	,	,		20494	0.0		0.0	False		,,,				2504	0.0051					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(217-219)aaC>aaT		carboxypeptidase A2 (pancreatic)							157	129	139					7																	129909574		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909574C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.219C>T	7.37:g.129909574C>T							p.N73N	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			3	274	+	Melanoma(18;0.0435)		73					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.219C>T	CCDS5817.2																																																																																				0.502	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		20	351	0	0	0	0.557998	0	20	351					T	129909574	C	T	129909574	2	4	63	1	0	0	0	0	0	0	0	1	3799	535	19	1		1	CPA2	7	129909574	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		129909574	29229089	24	7538											
MCM4	4173	broad.mit.edu	37	chr8	48887486	48887486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtctgcaactgatcccCggactggcatcgtggacata	11	12	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:48887486C>T	ENST00000262105.2	+	14	2538	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	777					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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACTGATCCCCGGACTGGCAT	0.408																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2329-2331)Cgg>Tgg		minichromosome maintenance complex component 4							104	114	111					8																	48887486		2203	4300	6503	SO:0001583	missense	4173				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|DNA binding|helicase activity|protein binding	g.chr8:48887486C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2329C>T	8.37:g.48887486C>T	ENSP00000262105:p.Arg777Trp					MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			14	2538	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	777					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2329C>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196210	0.58126	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.11495	2.77;2.77	5.54	1.16	0.20824	.	0.145914	0.64402	D	0.000010	T	0.15869	0.0382	M	0.76574	2.34	0.52501	D	0.999955	D;D	0.62365	0.991;0.991	P;P	0.46452	0.517;0.517	T	0.03051	-1.1078	10	0.66056	D	0.02	-19.7997	8.7111	0.34385	0.652:0.2655:0.0:0.0824	.	777;777	B3KMX0;P33991	.;MCM4_HUMAN	W	777;777;764;737;52;61;61	ENSP00000430194:R777W;ENSP00000262105:R777W	ENSP00000262105:R777W	R	+	1	2	MCM4	49050039	1.000000	0.71417	0.012000	0.15200	0.396000	0.30629	4.273000	0.58914	0.269000	0.21961	0.557000	0.71058	CGG		0.408	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		14	404	0	0	0	0.435327	0	14	404					T	48887486	C	T	48887486	3	4	63	1	0	0	0	0	1	0	0	0	9430	643	23	1	2383	1	MCM4	8	48887486	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		48887486	97476536	25	7539											
SULF1	23213	broad.mit.edu	37	chr8	70512900	70512900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattatgcagtacacaggacCaatgctgcccatccacatgg	9	12	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:70512900C>A	ENST00000260128.4	+	9	1514	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACACAGGACCAATGCTGCCC	0.393																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(796-798)cCa>cAa		sulfatase 1							156	147	150					8																	70512900		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512900C>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.797C>A	8.37:g.70512900C>A	ENSP00000260128:p.Pro266Gln					SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000521946.1_3'UTR	p.P266Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1514	+	Breast(64;0.0654)		266					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.797C>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288091	0.80803	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.02	6.02	0.97574	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.047800	0.85682	D	0.000000	D	0.98635	0.9543	M	0.72479	2.2	0.80722	D	1	P	0.37997	0.614	B	0.43838	0.433	D	0.98971	1.0801	10	0.45353	T	0.12	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	266	Q8IWU6	SULF1_HUMAN	Q	266	ENSP00000403040:P266Q;ENSP00000260128:P266Q;ENSP00000385704:P266Q;ENSP00000390315:P266Q	ENSP00000260128:P266Q	P	+	2	0	SULF1	70675454	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CCA		0.393	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		18	533	1	0	5.35267e-07	0.557998	5.79872e-07	18	533					A	70512900	C	A	70512900	3	1	63	1	0	0	0	0	1	0	0	0	15422	594	21	3	815	3	SULF1	8	70512900	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	21625414	70512900	75851122	26	7540											
KIAA1797	54914	broad.mit.edu	37	chr9	20789554	20789554	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgaagacaaaggacaaaatCttcaccaaatactcaaggtc	6	9	3	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:20789554C>T	ENST00000380249.1	+	13	1766	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L468F|SNORA30_ENST00000365319.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	468						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGGACAAAATCTTCACCAAAT	0.438																																						ENST00000380249.1																			0											c.(1402-1404)Ctt>Ttt		focadhesin							134	129	130					9																	20789554		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20789554C>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.1402C>T	9.37:g.20789554C>T	ENSP00000369599:p.Leu468Phe					FOCAD_ENST00000338382.6_Missense_Mutation_p.L468F	p.L468F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			13	1766	+			468					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1402C>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425574	0.83667	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08720	3.06;3.06	5.71	5.71	0.89125	.	0.126368	0.56097	D	0.000034	T	0.20495	0.0493	L	0.29908	0.895	0.49389	D	0.999783	D	0.76494	0.999	D	0.85130	0.997	T	0.00491	-1.1708	10	0.62326	D	0.03	-14.2471	18.0382	0.89311	0.0:1.0:0.0:0.0	.	468	Q5VW36	K1797_HUMAN	F	468	ENSP00000369599:L468F;ENSP00000344307:L468F	ENSP00000344307:L468F	L	+	1	0	KIAA1797	20779554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.983000	0.63832	2.696000	0.92011	0.655000	0.94253	CTT		0.438	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		31	364	0	0	0	0.750413	0	31	364					T	20789554	C	T	20789554	3	4	63	1	0	0	0	0	1	0	0	0	8288	913	32	2	1440	2	KIAA1797	9	20789554	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		20789554	120423877	27	7541											
COL5A1	1289	broad.mit.edu	37	chr9	137593108	137593108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaattcctcgaccgcagcGaccaccccatgatcgacatc	6	18	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:137593108G>A	ENST00000371817.3	+	4	997	c.583G>A	c.(583-585)Gac>Aac	p.D195N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	195	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGACCGCAGCGACCACCCCAT	0.527																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(583-585)Gac>Aac		collagen, type V, alpha 1							170	124	140					9																	137593108		2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593108G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.583G>A	9.37:g.137593108G>A	ENSP00000360882:p.Asp195Asn					COL5A1_ENST00000464187.1_3'UTR	p.D195N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	997	+		Myeloproliferative disorder(178;0.0341)	195			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.583G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324920	0.24080	.	.	ENSG00000130635	ENST00000371817	T	0.02050	4.48	5.07	3.16	0.36331	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.148628	0.45361	U	0.000371	T	0.02119	0.0066	L	0.31294	0.92	0.31583	N	0.654905	B	0.14012	0.009	B	0.12837	0.008	T	0.24333	-1.0163	10	0.21014	T	0.42	.	11.1493	0.48449	0.1571:0.0:0.8429:0.0	.	195	P20908	CO5A1_HUMAN	N	195	ENSP00000360882:D195N	ENSP00000360882:D195N	D	+	1	0	COL5A1	136732929	0.904000	0.30761	0.486000	0.27416	0.501000	0.33797	1.332000	0.33805	0.585000	0.29608	0.591000	0.81541	GAC		0.527	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	135	0	0	0	0.335167	0	9	135					A	137593108	G	A	137593108	3	1	63	1	0	0	0	0	1	0	0	0	3705	1058	37	1	597	1	COL5A1	9	137593108	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	116803554	137593108	3620323	28	7542											
NLRP10	338322	broad.mit.edu	37	chr11	7981305	7981305	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccatggacagaaggAcatttttgctcctccttagg	9	10	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:7981305A>T	ENST00000328600.2	-	2	2015	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACAGAAGGACATTTTTGCT	0.398																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1852-1854)tgT>tgA		NLR family, pyrin domain containing 10							97	89	92					11																	7981305		2201	4295	6496	SO:0001587	stop_gained	338322						ATP binding	g.chr11:7981305A>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1854T>A	11.37:g.7981305A>T	ENSP00000327763:p.Cys618*						p.C618*	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2015	-			618					Q2M3C4|Q6JGT0	Nonsense_Mutation	SNP	ENST00000328600.2	37	c.1854T>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580088	0.86645	.	.	ENSG00000182261	ENST00000328600	.	.	.	3.25	2.06	0.26882	.	1.346570	0.05421	N	0.544148	.	.	.	.	.	.	0.50632	D	0.999887	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.3929	0.21597	0.7464:0.2536:0.0:0.0	.	.	.	.	X	618	.	ENSP00000327763:C618X	C	-	3	2	NLRP10	7937881	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	0.712000	0.25779	0.607000	0.29982	0.460000	0.39030	TGT		0.398	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		14	333	0	0	0	0.435327	0	14	333					T	7981305	A	T	7981305	4	4	63	1	0	0	0	0	0	1	0	0	10514	273	10	5	117	5	NLRP10	11	7981305	Nonsense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		7981305	127025211	29	7543											
ST5	6764	broad.mit.edu	37	chr11	8724252	8724252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgagtccatgggccGccgcagctctaacacctgca	10	16	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:8724252G>A	ENST00000534127.1	-	17	2972	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ST5_ENST00000526757.1_Missense_Mutation_p.R443W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	863	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCCATGGGCCGCCGCAGCTCT	0.612																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2587-2589)Cgg>Tgg		suppression of tumorigenicity 5							64	60	61					11																	8724252		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8724252G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2587C>T	11.37:g.8724252G>A	ENSP00000433528:p.Arg863Trp					ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W|ST5_ENST00000526757.1_Missense_Mutation_p.R443W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W	p.R863W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	17	2972	-			863			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2587C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.957236	0.73902	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081;ENST00000533020	T;T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	4.72	3.79	0.43588	DENN (3);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.89917	0.981;0.999;1.0	P;D;D	0.91635	0.883;0.985;0.999	T	0.62158	-0.6913	10	0.87932	D	0	-9.9415	13.2336	0.59957	0.0:0.0:0.7124:0.2876	.	376;443;863	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	W	443;863;863;335;863;376;54;443;53;335	ENSP00000435097:R443W;ENSP00000433528:R863W;ENSP00000319678:R863W;ENSP00000432887:R335W;ENSP00000350294:R863W;ENSP00000436808:R376W;ENSP00000433349:R54W;ENSP00000436802:R443W;ENSP00000436067:R53W;ENSP00000433588:R335W	ENSP00000319678:R863W	R	-	1	2	ST5	8680828	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.822000	0.55708	0.934000	0.37316	0.486000	0.48141	CGG		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		13	288	0	0	0	0.435327	0	13	288					A	8724252	G	A	8724252	3	1	63	1	0	0	0	0	1	0	0	0	15272	1086	38	1	854	1	ST5	11	8724252	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	742947	8724252	126282264	30	7544											
ANO3	63982	broad.mit.edu	37	chr11	26619970	26619970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactgacctatacttgggaCcttatcgaatgggaagaaga	10	7	0	3	rs141900098		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:26619970C>A	ENST00000256737.3	+	15	2358	c.1506C>A	c.(1504-1506)gaC>gaA	p.D502E	ANO3_ENST00000525139.1_Missense_Mutation_p.D486E|ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	502					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATACTTGGGACCTTATCGAAT	0.388																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1504-1506)gaC>gaA		anoctamin 3							123	122	122					11																	26619970		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619970C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1506C>A	11.37:g.26619970C>A	ENSP00000256737:p.Asp502Glu					ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E|ANO3_ENST00000525139.1_Missense_Mutation_p.D486E	p.D502E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2358	+			502					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1506C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673082	0.67928	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.51	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.81802	2.56	0.58432	D	0.999996	D;P	0.56035	0.974;0.881	D;P	0.65140	0.932;0.74	T	0.73269	-0.4036	10	0.72032	D	0.01	.	8.8936	0.35449	0.0:0.5697:0.0:0.4303	.	404;502	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	E	486;486;502;404;356	ENSP00000440737:D486E;ENSP00000432576:D486E;ENSP00000256737:D502E;ENSP00000432394:D356E	ENSP00000256737:D502E	D	+	3	2	ANO3	26576546	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	0.913000	0.28611	0.044000	0.15775	-0.251000	0.11542	GAC		0.388	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		22	415	1	0	4.26978e-12	0.654019	4.73841e-12	22	415					A	26619970	C	A	26619970	3	1	63	1	0	0	0	0	1	0	0	0	698	506	18	3	1564	3	ANO3	11	26619970	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	17895718	26619970	108386546	31	7545											
FAT3	120114	broad.mit.edu	37	chr11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggcggggcgtggtcGtgtgcagtgtggcccccaac	17	14	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12844-12846)Gtg>Atg		FAT atypical cadherin 3							31	38	36					11																	92616466		2098	4197	6295	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616466G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12844G>A	11.37:g.92616466G>A	ENSP00000298047:p.Val4282Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M	p.V4282M			Q8TDW7	FAT3_HUMAN			23	12861	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4282					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12844G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.201275	0.94997	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.90261	-1.04;-1.32;-1.05;-2.64	5.85	5.85	0.93711	.	.	.	.	.	D	0.95736	0.8613	M	0.81497	2.545	0.80722	D	1	D;B	0.89917	1.0;0.382	D;B	0.91635	0.999;0.019	D	0.95204	0.8319	9	0.56958	D	0.05	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4282;4282	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4282;4282;4132;617	ENSP00000298047:V4282M;ENSP00000387040:V4282M;ENSP00000432586:V4132M;ENSP00000436399:V617M	ENSP00000298047:V4282M	V	+	1	0	FAT3	92256114	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.746000	0.98859	2.770000	0.95276	0.655000	0.94253	GTG		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	333	0	0	0	0.557998	0	19	333					A	92616466	G	A	92616466	3	1	63	1	0	0	0	0	1	0	0	0	5716	1145	40	1	12934	1	FAT3	11	92616466	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	65996496	92616466	42390050	32	7546											
CNTN5	53942	broad.mit.edu	37	chr11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccatctcgaatgatcCgcacaaatgaagcaggtaaa	8	12	1	2	rs370172429		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		TCGAATGATCCGCACAAATGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16249	0.0		0.0	False		,,,				2504	0.0					ENST00000524871.1																			0				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						c.(2299-2301)Cgc>Tgc		contactin 5		C	CYS/ARG,CYS/ARG	1,3835		0,1,1917	87	85	85		2299,2077	5.5	1	11		85	0,8262		0,0,4131	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	180,180	0,1,6048	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging	767/1101,693/1027	100141958	1,12097	1918	4131	6049	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141958C>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.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys					CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2589	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	767					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2299C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	CNTN5	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		4	137	0	0	0	0.150653	0	4	137					T	100141958	C	T	100141958	3	4	63	1	0	0	0	0	1	0	0	0	3653	652	23	1	2361	1	CNTN5	11	100141958	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	7525492	100141958	34864558	33	7547											
C11orf63	79864	broad.mit.edu	37	chr11	122805736	122805736	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaaaaataagaaacaactCaaacagccttatacagagac	4	10	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:122805736C>T	ENST00000531316.1	+	4	1679	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	C11orf63_ENST00000227349.2_Silent_p.L529L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	529					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAAACAACTCAAACAGCCTT	0.368																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1585-1587)ctC>ctT		chromosome 11 open reading frame 63							53	55	55					11																	122805736		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122805736C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1587C>T	11.37:g.122805736C>T						C11orf63_ENST00000531316.1_Silent_p.L529L	p.L529L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1884	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	529					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1587C>T	CCDS8438.1																																																																																				0.368	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		33	324	0	0	0	0.769981	0	33	324					T	122805736	C	T	122805736	2	4	63	1	0	0	0	0	0	0	0	1	1659	813	29	2		2	C11orf63	11	122805736	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	22663778	122805736	12200780	34	7548											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	125	0	0	0	0.457914	0	12	125					T	25398284	C	T	25398284	3	4	63	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		25398284	108453611	35	7549											
C12orf40	283461	broad.mit.edu	37	chr12	40044057	40044057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgcagtactgttaactGttctgattccttgctttcca	7	11	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:40044057G>C	ENST00000324616.5	+	7	741	c.587G>C	c.(586-588)tGt>tCt	p.C196S	C12orf40_ENST00000405531.3_Missense_Mutation_p.C196S|C12orf40_ENST00000398716.1_Missense_Mutation_p.C119S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	196										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTGTTAACTGTTCTGATTCC	0.279																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(586-588)tGt>tCt		chromosome 12 open reading frame 40							83	75	77					12																	40044057		1804	4064	5868	SO:0001583	missense	283461							g.chr12:40044057G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.587G>C	12.37:g.40044057G>C	ENSP00000317671:p.Cys196Ser					C12orf40_ENST00000398716.1_Missense_Mutation_p.C119S|C12orf40_ENST00000405531.3_Missense_Mutation_p.C196S	p.C196S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			7	741	+			196					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.587G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	1.331	-0.596896	0.03771	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44482	0.92;0.93	3.53	-4.21	0.03812	.	0.845638	0.09893	N	0.742091	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	0.99999	B	0.10296	0.003	B	0.06405	0.002	T	0.19976	-1.0289	10	0.24483	T	0.36	.	0.5707	0.00695	0.1926:0.164:0.2959:0.3476	.	196	Q86WS4	CL040_HUMAN	S	196;119;196	ENSP00000383897:C196S;ENSP00000317671:C196S	ENSP00000317671:C196S	C	+	2	0	C12orf40	38330324	0.401000	0.25303	0.046000	0.18839	0.262000	0.26303	0.148000	0.16224	-0.734000	0.04843	-0.188000	0.12872	TGT		0.279	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		3	149	0	0	0	0.115264	0	3	149					C	40044057	G	C	40044057	3	2	63	1	0	0	0	0	1	0	0	0	1691	1377	48	5	613	5	C12orf40	12	40044057	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14645773	40044057	93807838	36	7550											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771274	43771274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgataaactataggcCgaagtcgatggagcttatgt	10	6	1	1	rs112430320		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:43771274C>T	ENST00000389420.3	-	32	4888	c.4889G>A	c.(4888-4890)cGg>cAg	p.R1630Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4888-4890)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							132	121	125					12																	43771274		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771274C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4889G>A	12.37:g.43771274C>T	ENSP00000374071:p.Arg1630Gln						p.R1630Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4888	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1630			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4889G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	1.570	-0.534275	0.04082	.	.	ENSG00000173157	ENST00000389420	T	0.58060	0.36	5.08	3.26	0.37387	.	0.767160	0.11370	N	0.570964	T	0.43919	0.1269	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16808	-1.0390	10	0.10902	T	0.67	.	12.2067	0.54356	0.0:0.8589:0.0:0.1411	.	1630	P59510	ATS20_HUMAN	Q	1630	ENSP00000374071:R1630Q	ENSP00000374071:R1630Q	R	-	2	0	ADAMTS20	42057541	0.000000	0.05858	0.708000	0.30435	0.023000	0.10783	-0.573000	0.05874	0.820000	0.34516	-0.122000	0.15005	CGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	162	0	0	0	0.307466	0	7	162					T	43771274	C	T	43771274	3	4	63	1	0	0	0	0	1	0	0	0	266	652	23	1	874	1	ADAMTS20	12	43771274	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	3727217	43771274	90080621	37	7551											
GLI1	2735	broad.mit.edu	37	chr12	57861870	57861870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagtgcatggtcctgacGcccatgtgaccaaacggcac	11	13	0	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:57861870G>A	ENST00000228682.2	+	10	1262	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	GLI1_ENST00000543426.1_Missense_Mutation_p.A263T|GLI1_ENST00000546141.1_Missense_Mutation_p.A350T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	391					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCTGACGCCCATGTGAC	0.572																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1171-1173)Gcc>Acc		GLI family zinc finger 1							92	71	78					12																	57861870		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861870G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1171G>A	12.37:g.57861870G>A	ENSP00000228682:p.Ala391Thr					GLI1_ENST00000546141.1_Missense_Mutation_p.A350T|GLI1_ENST00000543426.1_Missense_Mutation_p.A263T	p.A391T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1262	+			391					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1171G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244674	0.79912	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.16073	2.5;2.37;2.46;2.46	4.52	4.52	0.55395	Zinc finger, C2H2 (1);	0.000000	0.49305	D	0.000145	T	0.24392	0.0591	N	0.12527	0.23	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.19877	-1.0292	10	0.72032	D	0.01	.	16.5576	0.84490	0.0:0.0:1.0:0.0	.	391	P08151	GLI1_HUMAN	T	263;391;350;350;263	ENSP00000437607:A263T;ENSP00000228682:A391T;ENSP00000441006:A350T;ENSP00000434408:A350T	ENSP00000228682:A391T	A	+	1	0	GLI1	56148137	1.000000	0.71417	0.919000	0.36401	0.324000	0.28378	9.595000	0.98260	2.505000	0.84491	0.655000	0.94253	GCC		0.572	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		14	243	0	0	0	0.500413	0	14	243					A	57861870	G	A	57861870	3	1	63	1	0	0	0	0	1	0	0	0	6466	1087	38	1	1205	1	GLI1	12	57861870	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14090596	57861870	75990025	38	7552											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792810	21792810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcttatggcacccgacCgttgtcgttatgtttggaaa	11	8	0	0	rs368192802	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:21792810C>T	ENST00000400017.2	+	14	1796	c.1796C>T	c.(1795-1797)cCg>cTg	p.P599L	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P599L|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	599					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCACCCGACCGTTGTCGTTA	0.473													c|||	5	0.000998403	0.003	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.001					ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1795-1797)cCg>cTg		retinitis pigmentosa GTPase regulator interacting protein 1		C	LEU/PRO	6,3922		0,6,1958	123	116	118		1796	-1.5	0.1	14		118	0,8284		0,0,4142	no	missense	RPGRIP1	NM_020366.3	98	0,6,6100	TT,TC,CC		0.0,0.1527,0.0491	benign	599/1287	21792810	6,12206	1964	4142	6106	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21792810C>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1796C>T	14.37:g.21792810C>T	ENSP00000382895:p.Pro599Leu					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P599L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000553500.1_3'UTR	p.P599L			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	1796	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	599					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1796C>T	CCDS45080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.75|10.75	1.437319|1.437319	0.25900|0.25900	0.001527|0.001527	0.0|0.0	ENSG00000092200|ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303|ENST00000307974	T;T;T;T;T|T	0.79454|0.79653	-0.9;-0.88;-0.88;-1.14;-1.27|-1.29	5.29|5.29	-1.47|-1.47	0.08772|0.08772	.|.	0.526964|.	0.21177|.	N|.	0.078886|.	T|T	0.65595|0.65595	0.2706|0.2706	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|P	0.10296|0.43094	0.0;0.0;0.003|0.799	B;B;B|B	0.04013|0.37780	0.001;0.001;0.001|0.258	T|T	0.56553|0.56553	-0.7960|-0.7960	10|9	0.37606|0.51188	T|T	0.19|0.08	-0.1041|-0.1041	7.2582|7.2582	0.26189|0.26189	0.2885:0.5442:0.1673:0.0|0.2885:0.5442:0.1673:0.0	.|.	74;215;599|8	G3V3I7;Q96KN7-5;Q96KN7|Q96KN7-3	.;.;RPGR1_HUMAN|.	L|C	561;599;599;74;61|8	ENSP00000451219:P561L;ENSP00000382895:P599L;ENSP00000206660:P599L;ENSP00000451262:P74L;ENSP00000450426:P61L|ENSP00000309721:R8C	ENSP00000206660:P599L|ENSP00000309721:R8C	P|R	+|+	2|1	0|0	RPGRIP1|RPGRIP1	20862650|20862650	0.000000|0.000000	0.05858|0.05858	0.083000|0.083000	0.20561|0.20561	0.971000|0.971000	0.66376|0.66376	-0.830000|-0.830000	0.04410|0.04410	-0.128000|-0.128000	0.11641|0.11641	-0.259000|-0.259000	0.10710|0.10710	CCG|CGT		0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		15	419	0	0	0	0.500413	0	15	419					T	21792810	C	T	21792810	3	4	63	1	0	0	0	0	1	0	0	0	13599	652	23	1	1850	1	RPGRIP1	14	21792810	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		21792810	85556730	39	7553											
PRKCH	5583	broad.mit.edu	37	chr14	61789073	61789073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggccacctcgagttggCcgtcttccacgagacgcccc	12	18	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:61789073C>T	ENST00000332981.5	+	1	639	c.254C>T	c.(253-255)gCc>gTc	p.A85V	RP11-902B17.1_ENST00000500036.2_RNA|PRKCH_ENST00000555082.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	85	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.A85V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCGAGTTGGCCGTCTTCCAC	0.642																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			2	Substitution - Missense(2)	p.A85V(2)	kidney(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(253-255)gCc>gTc		protein kinase C, eta							59	51	54					14																	61789073		2202	4299	6501	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61789073C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.254C>T	14.37:g.61789073C>T	ENSP00000329127:p.Ala85Val					RP11-902B17.1_ENST00000500036.2_RNA	p.A85V	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	1	639	+			85			C2.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.254C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841361	0.91197	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.69175	-0.38;-0.38	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108001	0.38436	N	0.001681	T	0.66096	0.2755	L	0.56396	1.775	0.80722	D	1	P	0.39809	0.689	P	0.45167	0.472	T	0.63265	-0.6676	10	0.05351	T	0.99	.	18.1711	0.89745	0.0:1.0:0.0:0.0	.	85	P24723	KPCL_HUMAN	V	85	ENSP00000452129:A85V;ENSP00000329127:A85V	ENSP00000329127:A85V	A	+	2	0	PRKCH	60858826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.518000	0.84900	0.655000	0.94253	GCC		0.642	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		5	267	0	0	0	0.217242	0	5	267					T	61789073	C	T	61789073	3	4	63	1	0	0	0	0	1	0	0	0	12560	739	26	2	256	2	PRKCH	14	61789073	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	39996263	61789073	45560467	40	7554											
C14orf4	64207	broad.mit.edu	37	chr14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG													ggctgcgctgttccaccgcaINSgcggcggcggcggcggcggc					rs61991619|rs371633333	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488dupCGC	14.37:g.77493654_77493656dupGCG	ENSP00000238647:p.Ala164dup						p.163_163G>AR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		9	57						9	57	---	---	---	---	GCG	77493648	-	GCG	77493647	7	5	63	1	0	1	1	0	0	0	0	0	1778	175	7	0	1905	0	C14orf4	14	77493647	In_Frame_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	15704574	77493647	29855893	41	7555											
GPR68	8111	broad.mit.edu	37	chr14	91700906	91700906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgctggttctcgtcctcGatgacctcctcgtgcatcag	11	14	2	1	rs145413696		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:91700906G>A	ENST00000531499.2	-	2	828	c.489C>T	c.(487-489)atC>atT	p.I163I	GPR68_ENST00000535815.1_Silent_p.I163I|GPR68_ENST00000238699.3_Silent_p.I173I|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	163					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCTCGTCCTCGATGACCTCCT	0.617																																						ENST00000531499.2																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(487-489)atC>atT		G protein-coupled receptor 68		G	,	1,4405	2.1+/-5.4	0,1,2202	84	61	69		489,489	-3	0.5	14	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPR68	NM_001177676.1,NM_003485.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	163/366,163/366	91700906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700906G>A	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.489C>T	14.37:g.91700906G>A						GPR68_ENST00000238699.3_Silent_p.I173I|GPR68_ENST00000535815.1_Silent_p.I163I	p.I163I			Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	828	-		all_cancers(154;0.0555)	163					Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.489C>T	CCDS9894.2																																																																																				0.617	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			9	138	0	0	0	0.361761	0	9	138					A	91700906	G	A	91700906	2	1	63	1	0	0	0	0	0	0	0	1	6736	1048	37	1		1	GPR68	14	91700906	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14207259	91700906	15648634	42	7556											
ATG2B	55102	broad.mit.edu	37	chr14	96790267	96790267	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcatctgacgatgttgtatCtccatctactccactagaca	6	12	4	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:96790267C>T	ENST00000359933.4	-	16	3399	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	836					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGTTGTATCTCCATCTACT	0.348																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2506-2508)Gat>Aat		autophagy related 2B							102	97	98					14																	96790267		1876	4105	5981	SO:0001583	missense	55102							g.chr14:96790267C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2506G>A	14.37:g.96790267C>T	ENSP00000353010:p.Asp836Asn						p.D836N	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	16	3399	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	836					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2506G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763763	0.69878	.	.	ENSG00000066739	ENST00000359933	T	0.10099	2.91	5.58	4.69	0.59074	.	0.283459	0.28026	U	0.016900	T	0.11024	0.0269	L	0.39633	1.23	0.51233	D	0.999911	B	0.09022	0.002	B	0.09377	0.004	T	0.05517	-1.0880	10	0.36615	T	0.2	.	14.2421	0.65963	0.0:0.9284:0.0:0.0716	.	836	Q96BY7	ATG2B_HUMAN	N	836	ENSP00000353010:D836N	ENSP00000353010:D836N	D	-	1	0	ATG2B	95860020	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	4.885000	0.63142	1.355000	0.45865	0.591000	0.81541	GAT		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		11	274	0	0	0	0.411799	0	11	274					T	96790267	C	T	96790267	3	4	63	1	0	0	0	0	1	0	0	0	1095	913	32	2	3838	2	ATG2B	14	96790267	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	5089361	96790267	10559273	43	7557											
CYP46A1	10858	broad.mit.edu	37	chr14	100182237	100182237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgggtccagcgccgcCgggaagccctgaagaggggc	19	12	0	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:100182237C>T	ENST00000261835.3	+	8	888	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP46A1_ENST00000554176.1_Missense_Mutation_p.R109W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	262					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGCGCCGCCGGGAAGCCCT	0.657																																						ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(325-327)Cgg>Tgg		cytochrome P450, family 46, subfamily A, polypeptide 1							27	32	30					14																	100182237		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182237C>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.784C>T	14.37:g.100182237C>T	ENSP00000261835:p.Arg262Trp					CYP46A1_ENST00000261835.3_Missense_Mutation_p.R262W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W	p.R109W			Q9Y6A2	CP46A_HUMAN			3	991	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	262					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.325C>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.870874|3.870874	0.72065|0.72065	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	.|T;T;T;T	.|0.71698	.|-0.59;-0.59;-0.59;-0.59	4.37|4.37	2.31|2.31	0.28768|0.28768	.|.	.|0.227351	.|0.43260	.|D	.|0.000591	T|T	0.79452|0.79452	0.4448|0.4448	M|M	0.73319|0.73319	2.225|2.225	0.35997|0.35997	D|D	0.837135|0.837135	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.70935	.|0.971;0.964	T|T	0.83233|0.83233	-0.0062|-0.0062	5|10	.|0.87932	.|D	.|0	.|.	8.7105|8.7105	0.34380|0.34380	0.4145:0.5855:0.0:0.0|0.4145:0.5855:0.0:0.0	.|.	.|109;262	.|Q8N2B0;Q9Y6A2	.|.;CP46A_HUMAN	L|W	248|262;165;109;15	.|ENSP00000261835:R262W;ENSP00000405779:R165W;ENSP00000450553:R109W;ENSP00000451602:R15W	.|ENSP00000261835:R262W	P|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99251990|99251990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.605000|0.605000	0.24179|0.24179	1.120000|1.120000	0.41904|0.41904	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.657	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			9	248	0	0	0	0.307466	0	9	248					T	100182237	C	T	100182237	3	4	63	1	0	0	0	0	1	0	0	0	4193	643	23	1	814	1	CYP46A1	14	100182237	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	3391970	100182237	7167303	44	7558											
CPEB1	64506	broad.mit.edu	37	chr15	83226611	83226611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggccgggtgtccaggcGtgatcctctaactgagggtg	17	9	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:83226611G>A	ENST00000562019.1	-	4	821	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|CPEB1_ENST00000563800.1_Missense_Mutation_p.R196C|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000398592.2_Intron|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	169					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGTCCAGGCGTGATCCTCTA	0.552																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(586-588)Cgc>Tgc		cytoplasmic polyadenylation element binding protein 1							80	82	82					15																	83226611		1955	4146	6101	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83226611G>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.505C>T	15.37:g.83226611G>A	ENSP00000457836:p.Arg169Cys					CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000562019.1_Missense_Mutation_p.R169C|CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C	p.R196C			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	2311	-			169			Ser-rich.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.586C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.282278	0.95489	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.84	5.84	0.93424	.	0.069321	0.56097	U	0.000024	T	0.68091	0.2963	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.83275	0.938;0.996;0.897;0.938	T	0.70608	-0.4825	9	0.87932	D	0	-13.3956	20.1379	0.98040	0.0:0.0:1.0:0.0	.	172;169;169;169	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	C	169;169;94;94;172	.	ENSP00000261723:R172C	R	-	1	0	CPEB1	81023666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.966000	0.70395	2.779000	0.95612	0.655000	0.94253	CGC		0.552	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		12	327	0	0	0	0.38729	0	12	327					A	83226611	G	A	83226611	3	1	63	1	0	0	0	0	1	0	0	0	3809	1145	40	1	1231	1	CPEB1	15	83226611	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		83226611	19304781	45	7559											
SRRM2	23524	broad.mit.edu	37	chr16	2817974	2817974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctggggcagtggcaaCgaccacgtcctctgctggtg	13	13	2	0	rs567024718		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:2817974C>T	ENST00000301740.8	+	11	7994	c.7445C>T	c.(7444-7446)aCg>aTg	p.T2482M	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2482	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGTGGCAACGACCACGTCC	0.602																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7444-7446)aCg>aTg		serine/arginine repetitive matrix 2							117	97	104					16																	2817974		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817974C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7445C>T	16.37:g.2817974C>T	ENSP00000301740:p.Thr2482Met					SRRM2_ENST00000574593.1_3'UTR	p.T2482M	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7994	+			2482			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7445C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	5.606	0.296563	0.10622	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77229	-1.08	5.91	3.69	0.42338	.	0.254140	0.34628	N	0.003801	T	0.53514	0.1801	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	B	0.31337	0.128	T	0.51293	-0.8724	10	0.59425	D	0.04	-13.6294	6.7485	0.23474	0.6891:0.1623:0.0:0.1487	.	2482	Q9UQ35	SRRM2_HUMAN	M	2482;2064;1734	ENSP00000301740:T2482M	ENSP00000301740:T2482M	T	+	2	0	SRRM2	2757975	0.903000	0.30736	0.019000	0.16419	0.235000	0.25334	1.785000	0.38684	0.503000	0.28060	-1.072000	0.02254	ACG		0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	333	0	0	0	0.411799	0	12	333					T	2817974	C	T	2817974	3	4	63	1	0	0	0	0	1	0	0	0	15221	536	19	1	7483	1	SRRM2	16	2817974	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		2817974	87536779	46	7560											
MEFV	4210	broad.mit.edu	37	chr16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacctgcttcaggtggCgcttacactgtggcaggggc	16	11	1	0	rs144998416		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R377H(1)|p.R166H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTTCAGGTGGCGCTTACACTG	0.647																																						ENST00000219596.1																			2	Substitution - Missense(2)	p.R377H(1)|p.R166H(1)	breast(2)	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1129-1131)cGc>cAc		Mediterranean fever	Colchicine(DB01394)	C	HIS/ARG,HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	53	47	49		1130,497	2.4	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging	377/782,166/446	3299561	2,12992	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299561C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1130G>A	16.37:g.3299561C>T	ENSP00000219596:p.Arg377His					MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H	p.R377H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1169	-			377					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1130G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892888	0.17613	4.55E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.35	2.37	0.29283	Zinc finger, B-box (3);	0.239831	0.30134	N	0.010337	T	0.27866	0.0686	L	0.37466	1.105	0.09310	N	1	P	0.36199	0.543	B	0.34346	0.18	T	0.12502	-1.0545	10	0.48119	T	0.1	-6.4133	5.7348	0.18061	0.0:0.6702:0.1599:0.1699	.	377	O15553	MEFV_HUMAN	H	377;377;197;166;166;166	ENSP00000219596:R377H;ENSP00000339639:R197H;ENSP00000438711:R166H;ENSP00000445079:R166H	ENSP00000219596:R377H	R	-	2	0	MEFV	3239562	0.000000	0.05858	0.928000	0.36995	0.031000	0.12232	0.044000	0.13992	0.506000	0.28125	-0.740000	0.03531	CGC		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		21	244	0	0	0	0.608945	0	21	244					T	3299561	C	T	3299561	3	4	63	1	0	0	0	0	1	0	0	0	9500	768	27	1	1247	1	MEFV	16	3299561	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	481587	3299561	87055192	47	7561											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	145	0	0	0	0.500413	0	17	145					T	7577120	C	T	7577120	3	4	63	1	0	0	0	0	1	0	0	0	16434	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		7577120	73618090	48	7562											
ALOX15B	247	broad.mit.edu	37	chr17	7942847	7942847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccagctgacaccgccGcggggcggccacctcctctt	12	17	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7942847G>A	ENST00000380183.4	+	2	430	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ALOX15B_ENST00000573359.1_Silent_p.P97P|ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	97	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGACACCGCCGCGGGGCGGCC	0.746																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(289-291)ccG>ccA		arachidonate 15-lipoxygenase, type B							3	3	3					17																	7942847		1942	3806	5748	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942847G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.291G>A	17.37:g.7942847G>A						ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000573359.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P	p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			2	430	+			97			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.291G>A	CCDS11128.1																																																																																				0.746	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			4	29	0	0	0	0.184627	0	4	29					A	7942847	G	A	7942847	2	1	63	1	0	0	0	0	0	0	0	1	539	1074	38	1		1	ALOX15B	17	7942847	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	365727	7942847	73252363	49	7563											
AP2B1	163	broad.mit.edu	37	chr17	33977630	33977630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgttacagctaaagaaGtagtcttgtctgagaagcca	9	9	2	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:33977630G>A	ENST00000262325.7	+	13	2171	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	540					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTAAAGAAGTAGTCTTGTC	0.473																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1618-1620)Gta>Ata		adaptor-related protein complex 2, beta 1 subunit							165	154	158					17																	33977630		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977630G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1618G>A	17.37:g.33977630G>A	ENSP00000262325:p.Val540Ile					AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000545922.2_3'UTR	p.V540I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2171	+		Ovarian(249;0.17)	540					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1618G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004336	0.74932	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.25094	0.71	0.80722	D	1	P;B;B;B	0.48764	0.915;0.009;0.004;0.001	D;B;B;B	0.68483	0.958;0.016;0.014;0.006	T	0.03130	-1.1069	10	0.20046	T	0.44	-3.0874	18.8762	0.92337	0.0:0.0:1.0:0.0	.	277;502;540;540	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	I	540;540;483;540;277	ENSP00000262325:V540I;ENSP00000314414:V540I;ENSP00000440563:V483I;ENSP00000437413:V540I	ENSP00000262325:V540I	V	+	1	0	AP2B1	31001743	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.857000	0.99534	2.720000	0.93068	0.591000	0.81541	GTA		0.473	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			47	572	0	0	0	0.864702	0	47	572					A	33977630	G	A	33977630	3	1	63	1	0	0	0	0	1	0	0	0	741	1029	36	2	1664	2	AP2B1	17	33977630	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	26034783	33977630	47217580	50	7564											
KRT12	3859	broad.mit.edu	37	chr17	39022893	39022894	+	Frame_Shift_Ins	INS	-	-	AGTG													tattcctgaggtcttcaatcINSagtggataatatttgctgta							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39022893_39022894insAGTG	ENST00000251643.4	-	1	568_569	c.545_546insCACT	c.(544-546)ctgfs	p.-182fs		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12						visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GGTCTTCAATCAGTGGATAATA	0.371																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(544-546)catfs		keratin 12																																				SO:0001589	frameshift_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39022893_39022894insAGTG		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.542_545dupCACT	17.37:g.39022894_39022897dupAGTG	ENSP00000251643:p.Leu182fs						p.H182fs	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			1	568_569	-		Breast(137;0.000301)	182			Linker 1.|Rod.		B2R9E0	Frame_Shift_Ins	INS	ENST00000251643.4	37	c.545_546insCACT	CCDS11378.1																																																																																				0.371	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		25	853						25	853	---	---	---	---	AGTG	39022894	-	AGTG	39022893	7	5	63	1	0	1	1	0	0	0	0	0	8479	813	29	0	970	0	KRT12	17	39022893	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	5045263	39022893	42172317	51	7565											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	13	15	2	1	rs138271368	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		19	377	0	0	0	0.575678	0	19	377					T	39673185	C	T	39673185	3	4	63	1	0	0	0	0	1	0	0	0	8482	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	650292	39673185	41522025	52	7566											
KCNJ2	3759	broad.mit.edu	37	chr17	68172063	68172063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgcagactttgaaatcGtggtcatactggaaggcatg	11	8	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:68172063G>A	ENST00000243457.3	+	2	1266	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	295					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTTTGAAATCGTGGTCATACT	0.458																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(883-885)Gtg>Atg		potassium inwardly-rectifying channel, subfamily J, member 2							73	74	74					17																	68172063		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172063G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.883G>A	17.37:g.68172063G>A	ENSP00000243457:p.Val295Met					KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	p.V295M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1266	+	Breast(10;1.64e-08)		295					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.883G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561962	0.65538	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95788	-3.81;-3.81	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98917	1.0782	9	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	295	P63252	IRK2_HUMAN	M	295	ENSP00000441848:V295M;ENSP00000243457:V295M	.	V	+	1	0	KCNJ2	65683658	1.000000	0.71417	0.153000	0.22517	0.927000	0.56198	8.009000	0.88606	2.885000	0.99019	0.655000	0.94253	GTG		0.458	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		13	303	0	0	0	0.435327	0	13	303					A	68172063	G	A	68172063	3	1	63	1	0	0	0	0	1	0	0	0	8081	1145	40	1	885	1	KCNJ2	17	68172063	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	28498878	68172063	13023147	53	7567											
RNF213	57674	broad.mit.edu	37	chr17	78321227	78321227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctcagaaggtgccggGtggagagcaggaagatgctg	17	8	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:78321227G>A	ENST00000582970.1	+	29	9235	c.9092G>A	c.(9091-9093)gGt>gAt	p.G3031D	RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D|RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3031					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGTGCCGGGTGGAGAGCAG	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9091-9093)gGt>gAt		ring finger protein 213							61	55	57					17																	78321227		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78321227G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9092G>A	17.37:g.78321227G>A	ENSP00000464087:p.Gly3031Asp					RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D|RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D	p.G3031D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9235	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9092G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	1.151	-0.646699	0.03531	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21031	2.03	5.1	0.667	0.17907	.	0.632866	0.14045	N	0.345181	T	0.15435	0.0372	L	0.56769	1.78	0.09310	N	1	B	0.22851	0.076	B	0.21360	0.034	T	0.41251	-0.9519	10	0.05525	T	0.97	.	7.3007	0.26418	0.1433:0.2588:0.5979:0.0	.	1104	Q63HN8	RN213_HUMAN	D	3031;3080;1104	ENSP00000338218:G1104D	ENSP00000338218:G1104D	G	+	2	0	RNF213	75935822	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.664000	0.25068	0.076000	0.16826	-0.986000	0.02555	GGT		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		20	243	0	0	0	0.575678	0	20	243					A	78321227	G	A	78321227	3	1	63	1	0	0	0	0	1	0	0	0	13527	1261	44	2	9521	2	RNF213	17	78321227	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	10149164	78321227	2873983	54	7568											
PTPRM	5797	broad.mit.edu	37	chr18	7774244	7774244	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaacaccttgactaaaccGacttctgatccatggatgcc	8	12	1	3	rs145799313		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:7774244G>A	ENST00000332175.8	+	2	1208	c.171G>A	c.(169-171)ccG>ccA	p.P57P	PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Silent_p.P57P|PTPRM_ENST00000580170.1_Silent_p.P57P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	57	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACTAAACCGACTTCTGATC	0.403																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(169-171)ccG>ccA		protein tyrosine phosphatase, receptor type, M		G	,	0,4406		0,0,2203	203	180	188		171,171	-6	1	18	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	57/1466,57/1453	7774244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7774244G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.171G>A	18.37:g.7774244G>A						PTPRM_ENST00000580170.1_Silent_p.P57P|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Silent_p.P57P	p.P57P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			2	1208	+		Colorectal(10;0.234)	57			MAM.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.171G>A	CCDS11840.1																																																																																				0.403	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			12	444	0	0	0	0.479597	0	12	444					A	7774244	G	A	7774244	2	1	63	1	0	0	0	0	0	0	0	1	12856	1045	37	1		1	PTPRM	18	7774244	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		7774244	70303004	55	7569											
FBN3	84467	broad.mit.edu	37	chr19	8206691	8206691	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacgcagctgcctccctGgcacaggcctggcacagcct	12	16	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:8206691G>A	ENST00000600128.1	-	8	1189	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*			Q75N90	FBN3_HUMAN	fibrillin 3	259	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCTCcctggcacaggcct	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(775-777)Cag>Tag		fibrillin 3							65	55	58					19																	8206691		2203	4300	6503	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206691G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.775C>T	19.37:g.8206691G>A	ENSP00000470498:p.Gln259*					FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*	p.Q259*			Q75N90	FBN3_HUMAN			8	1189	-			259			EGF-like 2; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.775C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	39	7.681677	0.98431	.	.	ENSG00000142449	ENST00000270509	.	.	.	3.63	3.63	0.41609	.	0.278041	0.30658	U	0.009155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.0316	0.64619	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000270509:Q259X	Q	-	1	0	FBN3	8112691	0.063000	0.20901	1.000000	0.80357	0.887000	0.51463	0.720000	0.25896	1.849000	0.53698	0.491000	0.48974	CAG		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		18	262	0	0	0	0.592651	0	18	262					A	8206691	G	A	8206691	4	1	63	1	0	0	0	0	0	1	0	0	5729	1357	47	2	7882	2	FBN3	19	8206691	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		8206691	50922292	56	7570											
EMR2	30817	broad.mit.edu	37	chr19	14854232	14854232	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaatgcgtgatcttacCgtgctgggtttggaggtgtc	16	7	1	1	rs202101555		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14854232C>T	ENST00000315576.3	-	20	2914	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	EMR2_ENST00000346057.1_Splice_Site_p.T772T|EMR2_ENST00000595839.1_Splice_Site_p.T679T|EMR2_ENST00000392965.3_Splice_Site_p.T763T|EMR2_ENST00000596991.2_Splice_Site_p.T810T|EMR2_ENST00000353005.1_Splice_Site_p.T679T|EMR2_ENST00000353876.1_Splice_Site_p.T728T|EMR2_ENST00000601345.1_Splice_Site_p.T810T|EMR2_ENST00000594076.1_Splice_Site_p.T728T|EMR2_ENST00000594294.1_Splice_Site_p.T772T|EMR2_ENST00000392967.2_Splice_Site_p.T810T	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	821					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATCTTACCGTGCTGGGTT	0.507																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.e20+1		egf-like module containing, mucin-like, hormone receptor-like 2							328	278	295					19																	14854232		2203	4300	6503	SO:0001630	splice_region_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14854232C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2463+1G>A	19.37:g.14854232C>T						EMR2_ENST00000392967.2_Splice_Site_p.T810_splice|EMR2_ENST00000353876.1_Splice_Site_p.T728_splice|EMR2_ENST00000594076.1_Splice_Site_p.T728_splice|EMR2_ENST00000594294.1_Splice_Site_p.T772_splice|EMR2_ENST00000596991.2_Splice_Site_p.T810_splice|EMR2_ENST00000392965.3_Splice_Site_p.T763_splice|EMR2_ENST00000595839.1_Splice_Site_p.T679_splice|EMR2_ENST00000346057.1_Splice_Site_p.T772_splice|EMR2_ENST00000601345.1_Splice_Site_p.T810_splice|EMR2_ENST00000353005.1_Splice_Site_p.T679_splice	p.T821_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			20	2914	-			821					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Splice_Site	SNP	ENST00000315576.3	37	c.2463_splice	CCDS32935.1																																																																																				0.507	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Silent	10	754	0	0	0	0.411799	0	10	754					T	14854232	C	T	14854232	5	4	63	1	0	0	0	0	0	0	1	0	5123	666	23	1	16	1	EMR2	19	14854232	Splice_Site	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	6647541	14854232	44274751	57	7571											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.66	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	546						7	546	---	---	---	---	-	44174237	AGC	-	44174235	7	5	63	1	0	1	0	1	0	0	0	0	12065	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-FZ-5926-01A-11D-1609-08	29320003	44174235	14954748	58	7572											
LILRA1	11024	broad.mit.edu	37	chr19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgggaacacacagggCggtatcgctgtttctacggt	12	11	2	0	rs372024491	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:55106342C>T	ENST00000251372.3	+	4	465	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R95W|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572													c|||	2	0.000399361	0.0	0.0	5008	,	,		19200	0.0		0.0	False		,,,				2504	0.002					ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(283-285)Cgg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		C	TRP/ARG	0,4406		0,0,2203	121	115	117		283	-1.3	0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	LILRA1	NM_006863.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	95/490	55106342	1,13005	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106342C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.283C>T	19.37:g.55106342C>T	ENSP00000251372:p.Arg95Trp					LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W	p.R95W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	453	+			95			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.283C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823541	0.16678	0.0	1.16E-4	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.13778	2.56;2.56	1.58	-1.3	0.09259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.639860	0.04121	N	0.316290	T	0.19604	0.0471	M	0.86740	2.835	0.09310	N	1	B;P	0.38440	0.097;0.631	B;B	0.32805	0.03;0.153	T	0.37842	-0.9688	10	0.72032	D	0.01	.	5.5529	0.17101	0.6042:0.3958:0.0:0.0	.	95;95	O75019-2;O75019	.;LIRA1_HUMAN	W	95	ENSP00000251372:R95W;ENSP00000413715:R95W	ENSP00000251372:R95W	R	+	1	2	LILRA1	59798154	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.728000	0.04925	-0.245000	0.09625	0.194000	0.17425	CGG		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		16	450	0	0	0	0.557998	0	16	450					T	55106342	C	T	55106342	3	4	63	1	0	0	0	0	1	0	0	0	8816	759	27	1	293	1	LILRA1	19	55106342	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	10932107	55106342	4022641	59	7573											
NKX2-2	4821	broad.mit.edu	37	chr20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgttcgcgctcgggcGccgacaggtaccgctgctgc	15	15	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:21492919G>A	ENST00000377142.4	-	2	820	c.464C>T	c.(463-465)gCg>gTg	p.A155V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	155					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCTCGGGCGCCGACAGGTA	0.672																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(463-465)gCg>gTg		NK2 homeobox 2							27	29	28					20																	21492919		2202	4299	6501	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492919G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.464C>T	20.37:g.21492919G>A	ENSP00000366347:p.Ala155Val					NKX2-2-AS1_ENST00000549659.1_RNA	p.A155V	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	820	-			155						Missense_Mutation	SNP	ENST00000377142.4	37	c.464C>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306965	0.95629	.	.	ENSG00000125820	ENST00000377142	D	0.96365	-3.99	4.98	4.98	0.66077	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97924	1.0316	10	0.87932	D	0	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	155	O95096	NKX22_HUMAN	V	155	ENSP00000366347:A155V	ENSP00000366347:A155V	A	-	2	0	NKX2-2	21440919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.792000	0.99085	2.291000	0.77112	0.462000	0.41574	GCG		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			5	131	0	0	0	0.184627	0	5	131					A	21492919	G	A	21492919	3	1	63	1	0	0	0	0	1	0	0	0	10492	1087	38	1	361	1	NKX2-2	20	21492919	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		21492919	41532601	60	7574											
REM1	28954	broad.mit.edu	37	chr20	30064350	30064350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcctggccgcctgagCacagtgccttccactcaatc	8	18	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:30064350C>T	ENST00000201979.2	+	2	395	c.102C>T	c.(100-102)agC>agT	p.S34S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	34					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S34R(2)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGCCTGAGCACAGTGCCTT	0.642																																						ENST00000201979.2																			2	Substitution - Missense(2)	p.S34R(2)	kidney(2)	kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(100-102)agC>agT		RAS (RAD and GEM)-like GTP-binding 1							79	87	84					20																	30064350		2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064350C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.102C>T	20.37:g.30064350C>T						DEFB124_ENST00000481595.1_Intron	p.S34S	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	395	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		34					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.102C>T	CCDS13181.1																																																																																				0.642	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		40	375	0	0	0	0.804634	0	40	375					T	30064350	C	T	30064350	2	4	63	1	0	0	0	0	0	0	0	1	13272	709	25	2		2	REM1	20	30064350	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	8571431	30064350	32961170	61	7575											
NCOA6	23054	broad.mit.edu	37	chr20	33324554	33324554	+	Nonsense_Mutation	SNP	G	G	A													ttcctttgagactaaattctGcgacggggctaaggcaagga							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324554G>A	ENST00000374796.2	-	13	8472	c.5902C>T	c.(5902-5904)Cag>Tag	p.Q1968*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1968	EP300/CRSP3-binding region.				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)			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						ACTAAATTCTGCGACGGGGCT	0.423																																						ENST00000374796.2																			0				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						c.(5902-5904)Cag>Tag		nuclear receptor coactivator 6							73	67	69					20																	33324554		2203	4300	6503	SO:0001587	stop_gained	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.chr20:33324554G>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.5902C>T	20.37:g.33324554G>A	ENSP00000363929:p.Gln1968*					NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*	p.Q1968*			Q14686	NCOA6_HUMAN			13	8472	-			1968			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.5902C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	57	29.054307	0.99975	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.82	5.82	0.92795	.	0.210894	0.33496	N	0.004842	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.2715	16.8083	0.85711	0.0:0.0:1.0:0.0	.	.	.	.	X	1968	.	ENSP00000351894:Q1968X	Q	-	1	0	NCOA6	32788215	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	3.764000	0.55264	2.765000	0.95021	0.591000	0.81541	CAG		0.423	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		20	182	0	0	0	0.575678	0	20	182					A	33324554	G	A	33324554	4	1	63	1	0	0	0	0	0	1	0	0	10275	1328	46	2	305	2	NCOA6	20	33324554	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	3260204	33324554	29700966	62	7576	53	2									
NCOA6	23054	broad.mit.edu	37	chr20	33324555	33324555	+	Silent	SNP	C	C	A													tcctttgagactaaattctgCgacggggctaaggcaaggaa					rs376017471		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324555C>A	ENST00000374796.2	-	13	8471	c.5901G>T	c.(5899-5901)tcG>tcT	p.S1967S	NCOA6_ENST00000359003.2_Silent_p.S1967S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1967	EP300/CRSP3-binding region.				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)			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						CTAAATTCTGCGACGGGGCTA	0.418																																						ENST00000374796.2																			0				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						c.(5899-5901)tcG>tcT		nuclear receptor coactivator 6							72	66	68					20																	33324555		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.chr20:33324555C>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.5901G>T	20.37:g.33324555C>A						NCOA6_ENST00000359003.2_Silent_p.S1967S	p.S1967S			Q14686	NCOA6_HUMAN			13	8471	-			1967			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5901G>T	CCDS13241.1																																																																																				0.418	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		19	181	1	0	3.99206e-14	0.557998	4.4849e-14	19	181					A	33324555	C	A	33324555	2	1	63	1	0	0	0	0	0	0	0	1	10275	755	27	3		3	NCOA6	20	33324555	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	1	33324555	29700965	63	7577	53	2									
SGK2	10110	broad.mit.edu	37	chr20	42198157	42198157	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatgtcaacgggggagagGtgggtgggcccacagggagg	20	7	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:42198157G>T	ENST00000341458.4	+	5	759		c.e5+1		SGK2_ENST00000423407.3_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000373100.1_Splice_Site|SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000485914.1_Splice_Site	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2						intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGGGGAGAGGTGGGTGGGCC	0.607																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e7+1		serum/glucocorticoid regulated kinase 2							55	46	49					20																	42198157		2203	4300	6503	SO:0001630	splice_region_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42198157G>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.540+1G>T	20.37:g.42198157G>T						SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000485914.1_Splice_Site|SGK2_ENST00000341458.4_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000423407.3_Splice_Site				Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	820	+		Myeloproliferative disorder(115;0.00452)						Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Splice_Site	SNP	ENST00000341458.4	37		CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973412	0.74246	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGK2	41631571	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.779000	0.99018	2.309000	0.77851	0.555000	0.69702	.		0.607	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		Intron	19	287	1	0	3.83957e-06	0.639603	4.1106e-06	19	287					T	42198157	G	T	42198157	5	4	63	1	0	0	0	0	0	0	1	0	14259	1275	44	3	559	3	SGK2	20	42198157	Splice_Site	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	8873602	42198157	20827363	64	7578											
MMP9	4318	broad.mit.edu	37	chr20	44641961	44641961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccacggctcccccgacGgtctgccccaccggaccccc	9	24	1	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:44641961G>A	ENST00000372330.3	+	9	1417	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTCCCCCGACGGTCTGCCCCA	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1396-1398)acG>acA		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						42	57	52					20																	44641961		2185	4275	6460	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641961G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1398G>A	20.37:g.44641961G>A			OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.T466T	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1417	+		Myeloproliferative disorder(115;0.0122)	466					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1398G>A	CCDS13390.1																																																																																				0.687	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			46	463	0	0	0	0.870114	0	46	463					A	44641961	G	A	44641961	2	1	63	1	0	0	0	0	0	0	0	1	9710	1103	39	1		1	MMP9	20	44641961	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	2443804	44641961	18383559	65	7579											
KDM6A	7403	broad.mit.edu	37	chrX	44936003	44936003	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggataaatgtccacctccaAgaccaccatcttcaccatac	4	15	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:44936003A>T	ENST00000377967.4	+	18	2805	c.2764A>T	c.(2764-2766)Aga>Tga	p.R922*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	922	Interaction with SUPT6H. {ECO:0000250}.		R -> K (in a patient with chronic myelomonocytic leukemia). {ECO:0000269|PubMed:21828135}.		canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCCACCTCCAAGACCACCATC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2764-2766)Aga>Tga		lysine (K)-specific demethylase 6A							260	197	218					X																	44936003		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44936003A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2764A>T	X.37:g.44936003A>T	ENSP00000367203:p.Arg922*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*	p.R922*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			18	2805	+			922					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.2764A>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	7.129326|7.129326	0.98081|0.98081	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.65|5.65	3.33|3.33	0.38152|0.38152	.|.	.|0.050169	.|0.85682	.|D	.|0.000000	T|.	0.32194|.	0.0821|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35226|.	-0.9797|.	3|.	.|0.02654	.|T	.|1	-2.4779|-2.4779	12.7932|12.7932	0.57545|0.57545	0.6538:0.3462:0.0:0.0|0.6538:0.3462:0.0:0.0	.|.	.|.	.|.	.|.	M|X	519;564|619;922;877;929;843	.|.	.|ENSP00000334340:R619X	K|R	+|+	2|1	0|2	KDM6A|KDM6A	44820947|44820947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.073000|2.073000	0.41519|0.41519	0.743000|0.743000	0.32719|0.32719	0.481000|0.481000	0.45027|0.45027	AAG|AGA		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		21	445	0	0	0	0.608945	0	21	445					T	44936003	A	T	44936003	4	4	63	1	0	0	0	0	0	1	0	0	8167	64	3	5	2834	5	KDM6A	23	44936003	Nonsense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		44936003	110334557	66	7580											
UBA1	7317	broad.mit.edu	37	chrX	47058941	47058941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacagccccgcctcgcTgagctcaacagctatgtgcc	9	16	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:47058941T>C	ENST00000335972.6	+	5	591	c.408T>C	c.(406-408)gcT>gcC	p.A136A	UBA1_ENST00000377351.4_Silent_p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	136	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCGCCTCGCTGAGCTCAACA	0.547																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(406-408)gcT>gcC		ubiquitin-like modifier activating enzyme 1							119	109	112					X																	47058941		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058941T>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.408T>C	X.37:g.47058941T>C						UBA1_ENST00000377351.4_Silent_p.A136A	p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			5	591	+			136			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.408T>C	CCDS14275.1																																																																																				0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		18	525	0	0	0	0.520397	0	18	525					C	47058941	T	C	47058941	2	2	63	1	0	0	0	0	0	0	0	1	16881	1567	55	4		4	UBA1	23	47058941	Silent	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	2122938	47058941	108211619	67	7581											
FAM155B	27112	broad.mit.edu	37	chrX	68725671	68725672	+	Frame_Shift_Ins	INS	-	-	A													cggccgagttcccctccgccINSaaaaaaaacttgctcaaagg							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:68725671_68725672insA	ENST00000252338.4	+	1	588_589	c.546_547insA	c.(547-549)aaafs	p.K183fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	183						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(544-549)gcaaaafs		family with sequence similarity 155, member B																																				SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725671_68725672insA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.554dupA	X.37:g.68725679_68725679dupA	ENSP00000252338:p.Lys183fs						p.AK182fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	588_589	+			182					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Ins	INS	ENST00000252338.4	37	c.546_547insA	CCDS35317.1																																																																																				0.589	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		8	342						8	342	---	---	---	---	A	68725672	-	A	68725671	7	5	63	1	0	1	1	0	0	0	0	0	5487	581	21	0	548	0	FAM155B	23	68725671	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	21666730	68725671	86544889	68	7582											
NONO	4841	broad.mit.edu	37	chrX	70519912	70519912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatttgccccaaacaaaCgtcgccgatactaataagtt	6	11	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:70519912C>T	ENST00000276079.8	+	12	1607	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000535149.1_Missense_Mutation_p.R379C|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1135-1137)Cgt>Tgt		non-POU domain containing, octamer-binding							92	80	84					X																	70519912		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70519912C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1402C>T	X.37:g.70519912C>T	ENSP00000276079:p.Arg468Cys					NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R468C	p.R379C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			10	1778	+	Renal(35;0.156)		468					B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1135C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	-	18.97	3.735989	0.69189	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21932	2.02;1.98;1.98;1.98	4.87	4.87	0.63330	.	0.114545	0.64402	D	0.000010	T	0.38480	0.1042	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.22871	-1.0204	10	0.87932	D	0	-5.6105	17.2567	0.87059	0.0:1.0:0.0:0.0	.	468	Q15233	NONO_HUMAN	C	379;468;468;468	ENSP00000441364:R379C;ENSP00000276079:R468C;ENSP00000362963:R468C;ENSP00000362947:R468C	ENSP00000276079:R468C	R	+	1	0	NONO	70436637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.161000	0.64935	2.256000	0.74724	0.529000	0.55759	CGT		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		30	480	0	0	0	0.769981	0	30	480					T	70519912	C	T	70519912	3	4	63	1	0	0	0	0	1	0	0	0	10576	536	19	1	1440	1	NONO	23	70519912	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	1794241	70519912	84750648	69	7583											
CPSF3L	54973	broad.mit.edu	37	chr1	1256428	1256428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatgacattcttgcccGcaatggagaccaggatgcag	11	12	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:1256428G>A	ENST00000435064.1	-	2	156	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A31V|CPSF3L_ENST00000545578.1_5'UTR|CPSF3L_ENST00000411962.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	25					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATTCTTGCCCGCAATGGAGAC	0.657																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(91-93)gCg>gTg		cleavage and polyadenylation specific factor 3-like							124	110	115					1																	1256428		2203	4299	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256428G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.74C>T	1.37:g.1256428G>A	ENSP00000413493:p.Ala25Val					CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_5'UTR	p.A31V	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	547	-	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)	25					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.92C>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282907	0.59867	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	T;T;T;T;T;T;T;T;T	0.79845	-1.31;0.92;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.8	1.7	0.24286	Beta-lactamase-like (2);	0.259540	0.38492	N	0.001676	D	0.82481	0.5046	L	0.58510	1.815	0.80722	D	1	P;P;D;P;P;B	0.67145	0.756;0.74;0.996;0.812;0.605;0.346	B;B;P;B;B;B	0.51487	0.222;0.22;0.671;0.217;0.131;0.099	D	0.83477	0.0062	10	0.72032	D	0.01	-18.2883	15.9488	0.79817	0.0:0.5284:0.4716:0.0	.	25;25;44;25;31;25	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	25;37;25;31;25;25;31;72;26;85	ENSP00000413493:A25V;ENSP00000404886:A25V;ENSP00000445001:A31V;ENSP00000392848:A25V;ENSP00000411233:A25V;ENSP00000436743:A31V;ENSP00000432009:A72V;ENSP00000435772:A26V;ENSP00000436824:A85V	ENSP00000294579:A37V	A	-	2	0	CPSF3L	1246291	0.823000	0.29233	0.865000	0.33974	0.979000	0.70002	1.705000	0.37867	0.056000	0.16144	0.645000	0.84053	GCG		0.657	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		6	580	0	0	0	1	0	6	580					A	1256428	G	A	1256428	3	1	64	1	0	0	0	0	1	0	0	0	3836	1087	38	1	1792	1	CPSF3L	1	1256428	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		1256428	247994193	1	7584											
CAMTA1	23261	broad.mit.edu	37	chr1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-													attccgaagttactatgaacAaaaaaaattccagcagagcc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1589fs*33(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)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Deletion - Frameshift(1)	p.K1589fs*33(1)	lung(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						c.(4759-4761)cafs		calmodulin binding transcription activator 1							143	160	154					1																	7811329		2203	4300	6503	SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811329delA	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.4760delA	1.37:g.7811329delA	ENSP00000306522:p.Gln1587fs					CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	p.Q1587fs	NM_015215.2	NP_056030.1	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)	20	4967	+	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)	1587			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Del	DEL	ENST00000303635.7	37	c.4760delA	CCDS30576.1																																																																																				0.473	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		7	1090						7	1090	---	---	---	---	-	7811329	A	-	7811329	7	5	64	1	0	1	0	1	0	0	0	0	2620	130	5	0	4838	0	CAMTA1	1	7811329	Frame_Shift_Del	DEL	A	TCGA-H8-A6C1-01A-11D-A32N-08	6554901	7811329	241439292	2	7585											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggacagtcctgcactggtGttttgttcctcttggcattg	11	9	1	0	rs2486717	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493													.|||	12	0.00239617	0.0	0.0	5008	,	,		19361	0.0079		0.0	False		,,,				2504	0.0041					ENST00000535591.1																			1	Substitution - Missense(1)	p.T93K(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(277-279)aCa>aAa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887579G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.278C>A	1.37:g.12887579G>T	ENSP00000439551:p.Thr93Lys						p.T93K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	473	-			93						Missense_Mutation	SNP	ENST00000535591.1	37	c.278C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.150051	0.01700	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04603	3.59;3.59	1.48	-2.96	0.05547	.	3.413660	0.01687	N	0.026476	T	0.01156	0.0038	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	10	0.12103	T	0.63	.	1.0378	0.01552	0.1543:0.2951:0.3093:0.2413	rs2486717	93	O60813	PRA11_HUMAN	K	93;134;93	ENSP00000439551:T93K;ENSP00000391839:T93K	ENSP00000328783:T134K	T	-	2	0	PRAMEF11	12810166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.627000	0.02033	-3.350000	0.00181	-0.731000	0.03576	ACA		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		8	1188	1	0	2.17888e-05	1	2.29665e-05	8	1188					T	12887579	G	T	12887579	3	4	64	1	0	0	0	0	1	0	0	0	12474	1377	48	3	1040	3	PRAMEF11	1	12887579	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5076250	12887579	236363042	3	7586											
SPEN	23013	broad.mit.edu	37	chr1	16260917	16260917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcacagtcaatgccGctgcgagtgcagtgaatgcc	12	14	1	1	rs377314260		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16260917G>A	ENST00000375759.3	+	11	8386	c.8182G>A	c.(8182-8184)Gct>Act	p.A2728T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2728	Interaction with RBPSUH. {ECO:0000250}.				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)			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)		AGTCAATGCCGCTGCGAGTGC	0.597																																						ENST00000375759.3																			0				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						c.(8182-8184)Gct>Act		spen family transcriptional repressor		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80	75	77		8182	-3.2	0	1		77	0,8600		0,0,4300	no	missense	SPEN	NM_015001.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2728/3665	16260917	1,13005	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.chr1:16260917G>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.8182G>A	1.37:g.16260917G>A	ENSP00000364912:p.Ala2728Thr						p.A2728T	NM_015001.2	NP_055816.2	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	8386	+		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)	2728			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8182G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580191	0.00879	2.27E-4	0.0	ENSG00000065526	ENST00000375759	T	0.11821	2.74	2.74	-3.23	0.05109	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42189	-0.9466	9	0.15066	T	0.55	0.0051	0.5368	0.00638	0.3557:0.1752:0.2912:0.1779	.	2728	Q96T58	MINT_HUMAN	T	2728	ENSP00000364912:A2728T	ENSP00000364912:A2728T	A	+	1	0	SPEN	16133504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.045000	0.03528	-0.787000	0.04510	-0.305000	0.09177	GCT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		6	360	0	0	0	1	0	6	360					A	16260917	G	A	16260917	3	1	64	1	0	0	0	0	1	0	0	0	15090	1087	38	1	8224	1	SPEN	1	16260917	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3373338	16260917	232989704	4	7587											
UBR4	23352	broad.mit.edu	37	chr1	19439063	19439063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctcctcccgcatggccGcagcccctcggcgaagatta	11	17	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:19439063G>A	ENST00000375254.3	-	78	11783	c.11756C>T	c.(11755-11757)gCg>gTg	p.A3919V	UBR4_ENST00000375267.2_Missense_Mutation_p.A3919V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3919					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATGGCCGCAGCCCCTCG	0.597																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11755-11757)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 4							63	69	67					1																	19439063		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19439063G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11756C>T	1.37:g.19439063G>A	ENSP00000364403:p.Ala3919Val					UBR4_ENST00000375254.3_Missense_Mutation_p.A3919V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V	p.A3919V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	78	11759	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3919					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11756C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847832	0.51164	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.85	5.85	0.93711	.	0.106897	0.64402	D	0.000006	T	0.43411	0.1246	N	0.11064	0.09	0.80722	D	1	B	0.27971	0.196	B	0.21151	0.033	T	0.35822	-0.9773	10	0.16420	T	0.52	.	18.7215	0.91697	0.0:0.0:1.0:0.0	.	3919	Q5T4S7	UBR4_HUMAN	V	3919;3919;3912;3895	ENSP00000364403:A3919V;ENSP00000364416:A3919V;ENSP00000364365:A3912V;ENSP00000364374:A3895V	ENSP00000364365:A3912V	A	-	2	0	UBR4	19311650	1.000000	0.71417	0.963000	0.40424	0.927000	0.56198	7.056000	0.76662	2.767000	0.95098	0.655000	0.94253	GCG		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	540	0	0	0	1	0	6	540					A	19439063	G	A	19439063	3	1	64	1	0	0	0	0	1	0	0	0	16958	1087	38	1	3911	1	UBR4	1	19439063	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3178146	19439063	229811558	5	7588											
MYOM3	127294	broad.mit.edu	37	chr1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtcaggatgaggcagtctCtgttcacatccaggcatcgg	12	10	3	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000374434.3	-	11	1319	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.R387K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGGCAGTCTCTGTTCACATC	0.647																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1159-1161)aGa>aAa		myomesin 3							52	59	57					1																	24418739		1951	4135	6086	SO:0001583	missense	127294							g.chr1:24418739C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1157G>A	1.37:g.24418739C>T	ENSP00000363557:p.Arg386Lys					MYOM3_ENST00000374434.3_Missense_Mutation_p.R386K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K|MYOM3_ENST00000475306.1_5'UTR	p.R387K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	11	1322	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	386			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1160G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404156	0.42613	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56275	0.47;0.47;0.47	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186233	0.52532	D	0.000063	T	0.27832	0.0685	N	0.04959	-0.14	0.26320	N	0.977686	B;B;B	0.23854	0.015;0.026;0.092	B;B;B	0.31101	0.124;0.035;0.045	T	0.29336	-1.0015	10	0.06625	T	0.88	.	8.5872	0.33666	0.0:0.8697:0.0:0.1303	.	43;386;386	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	K	386;387;386	ENSP00000363557:R386K;ENSP00000332670:R387K;ENSP00000328415:R386K	ENSP00000328415:R386K	R	-	2	0	MYOM3	24291326	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.132000	0.31418	2.601000	0.87937	0.563000	0.77884	AGA		0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		8	541	0	0	0	1	0	8	541					T	24418739	C	T	24418739	3	4	64	1	0	0	0	0	1	0	0	0	10134	913	32	2	3264	2	MYOM3	1	24418739	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	4979676	24418739	224831882	6	7589											
WASF2	10163	broad.mit.edu	37	chr1	27736340	27736340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccggaggaggaggaggAgggggaggaggaggtgctcc	24	7	0	0	rs71584884		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1183-1185)ccT>ccC		WAS protein family, member 2							51	53	52					1																	27736340		2203	4300	6503	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736340A>G	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185T>C	1.37:g.27736340A>G						WASF2_ENST00000536657.1_Intron	p.P395P	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	395			Poly-Pro.		B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.1185T>C	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		5	255	0	0	0	1	0	5	255					G	27736340	A	G	27736340	2	3	64	1	0	0	0	0	0	0	0	1	17307	291	11	4		4	WASF2	1	27736340	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	3317601	27736340	221514281	7	7590											
GRIK3	2899	broad.mit.edu	37	chr1	37356679	37356679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcgttggggccgtccGcatactcgaagattcctcct	12	14	0	1	rs371759736		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:37356679G>A	ENST00000373091.3	-	2	150	c.134C>T	c.(133-135)gCg>gTg	p.A45V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	45					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGGGCCGTCCGCATACTCGAA	0.502																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(133-135)gCg>gTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	G	VAL/ALA	0,4406		0,0,2203	211	196	201		134	5.8	1	1		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	45/920	37356679	1,13005	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356679G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.134C>T	1.37:g.37356679G>A	ENSP00000362183:p.Ala45Val					GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			2	150	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	45					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.134C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608645	0.28623	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22134	1.97;1.97	5.83	5.83	0.93111	.	0.070591	0.64402	D	0.000009	T	0.11665	0.0284	N	0.08118	0	0.29036	N	0.885411	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12016	-1.0564	10	0.27082	T	0.32	.	13.3361	0.60518	0.0719:0.0:0.9281:0.0	.	45;45	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	45	ENSP00000362183:A45V;ENSP00000362185:A45V	ENSP00000362183:A45V	A	-	2	0	GRIK3	37129266	0.073000	0.21202	0.956000	0.39512	0.920000	0.55202	1.202000	0.32271	2.749000	0.94314	0.650000	0.86243	GCG		0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		6	775	0	0	0	1	0	6	775					A	37356679	G	A	37356679	3	1	64	1	0	0	0	0	1	0	0	0	6805	1087	38	1	2685	1	GRIK3	1	37356679	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	9620339	37356679	211893942	8	7591											
LRRC41	10489	broad.mit.edu	37	chr1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-													ggtcccacgtagaacatgggAaaaaaaggcctccataaact							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)tccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(400-402)ccfs		leucine rich repeat containing 41							69	63	65					1																	46752129		2203	4300	6503	SO:0001589	frameshift_variant	10489							g.chr1:46752129delA	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.400delT	1.37:g.46752129delA	ENSP00000343298:p.Ser134fs					LRRC41_ENST00000472710.1_5'UTR	p.S134fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	685	-	Acute lymphoblastic leukemia(166;0.155)		134					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	ENST00000343304.6	37	c.400delT	CCDS533.1																																																																																				0.483	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		8	337						8	337	---	---	---	---	-	46752129	A	-	46752129	7	5	64	1	0	1	0	1	0	0	0	0	9037	246	9	0	2066	0	LRRC41	1	46752129	Frame_Shift_Del	DEL	A	TCGA-H8-A6C1-01A-11D-A32N-08	9395450	46752129	202498492	9	7592											
C1orf168	199920	broad.mit.edu	37	chr1	57224419	57224419	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaattccaacttcataAgttgctaaagtaaacataaa	3	8	3	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1066-1068)acT>acG		chromosome 1 open reading frame 168							50	49	49					1																	57224419		2202	4295	6497	SO:0001819	synonymous_variant	199920							g.chr1:57224419A>C	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1068T>G	1.37:g.57224419A>C						C1orf168_ENST00000484327.1_Intron	p.T356T	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			6	1148	-			356					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1068T>G	CCDS30729.1																																																																																				0.318	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		26	95	0	0	0	1	0	26	95					C	57224419	A	C	57224419	2	2	64	1	0	0	0	0	0	0	0	1	2019	59	3	4		4	C1orf168	1	57224419	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	10472290	57224419	192026202	10	7593											
ELTD1	64123	broad.mit.edu	37	chr1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtatcaggtgagtaattCcaaaatgcacatagactcct	8	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1117-1119)tgG>tgA		EGF, latrophilin and seven transmembrane domain containing 1							119	112	114					1																	79387436		1946	4138	6084	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387436C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1119G>A	1.37:g.79387436C>T	ENSP00000359778:p.Trp373*						p.W373*	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1182	-			373			GPS.		B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1119G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540107	0.85917	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	3	0	ELTD1	79160024	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG		0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		46	248	0	0	0	1	0	46	248					T	79387436	C	T	79387436	4	4	64	1	0	0	0	0	0	1	0	0	5102	856	30	2	981	2	ELTD1	1	79387436	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	22163017	79387436	169863185	11	7594											
LPHN2	23266	broad.mit.edu	37	chr1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggactccctatcgtAccgatactttaatagaatat	6	11	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCCTATCGTACCGATACTTT	0.393																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(538-540)Acc>Gcc		latrophilin 2							75	80	78					1																	82408793		2202	4298	6500	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408793A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.538A>G	1.37:g.82408793A>G	ENSP00000359763:p.Thr180Ala					LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A	p.T180A			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1183	+			180			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	A	18.66	3.672334	0.67928	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.38;-0.48;-0.45;-0.4;-0.42;-0.38;-0.42;-0.43;-0.43;-0.42;-0.42;-0.38;-0.4;-0.45	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.991	D;P;P	0.66716	0.946;0.861;0.835	T	0.83271	-0.0043	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	180;180;180	O95490-3;O95490-4;O95490-2	.;.;.	A	184;180;180;180;180;180;180;180;180;180;180;180;180;180	ENSP00000359756:T184A;ENSP00000359763:T180A;ENSP00000359765:T180A;ENSP00000359762:T180A;ENSP00000359760:T180A;ENSP00000359758:T180A;ENSP00000353006:T180A;ENSP00000359750:T180A;ENSP00000359748:T180A;ENSP00000322270:T180A;ENSP00000359752:T180A;ENSP00000378344:T180A;ENSP00000271029:T180A;ENSP00000337306:T180A	ENSP00000271029:T180A	T	+	1	0	LPHN2	82181381	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	ACC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		67	248	0	0	0	1	0	67	248					G	82408793	A	G	82408793	3	3	64	1	0	0	0	0	1	0	0	0	8954	391	14	4	552	4	LPHN2	1	82408793	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	3021357	82408793	166841828	12	7595											
ABCA4	24	broad.mit.edu	37	chr1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccagcgtctcctccagctCtctgaaaaggctggcatatg	10	13	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCCAGCTCTCTGAAAAGG	0.473																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3745-3747)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 4							107	109	108					1																	94502769		2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502769C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3745G>T	1.37:g.94502769C>A	ENSP00000359245:p.Glu1249*						p.E1249*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	25	3831	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1249					O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.3745G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	44	10.838638	0.99476	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	.	.	.	X	41;1249	.	ENSP00000359245:E1249X	E	-	1	0	ABCA4	94275357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.932000	0.70121	2.861000	0.98227	0.655000	0.94253	GAG		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	474	1	0	7.48243e-07	1	7.97308e-07	9	474					A	94502769	C	A	94502769	4	1	64	1	0	0	0	0	0	1	0	0	34	922	32	3	3180	3	ABCA4	1	94502769	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	12093976	94502769	154747852	13	7596											
TCHH	7062	broad.mit.edu	37	chr1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T													gcttctcagaagtggagacaINStttttttttctttccttcaa					rs141946179	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			AAGTGGAGACATTTTTTTTTCT	0.361																																						ENST00000368804.1																			0				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								trichohyalin																																				SO:0001582	initiator_codon_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152086555_152086556insT	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.2dupA	1.37:g.152086564_152086564dupT								NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	0_1	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)							Q5VUI3	Translation_Start_Site	INS	ENST00000368804.1	37		CCDS41396.1																																																																																				0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	188						7	188	---	---	---	---	T	152086556	-	T	152086555	7	5	64	1	0	1	1	0	0	0	0	0	15752	231	8	0	5837	0	TCHH	1	152086555	Start_Codon_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08	57583786	152086555	97164066	14	7597											
FLG2	388698	broad.mit.edu	37	chr1	152325720	152325720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcctgaatgtgtgtgCgagccccctgagtgcacttc	13	11	0	2	rs147635537		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514					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)			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)			AATGTGTGTGCGAGCCCCCTG	0.493																																						ENST00000388718.5																			0				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						c.(4540-4542)tcG>tcA		filaggrin family member 2		T		0,4406		0,0,2203	321	309	313		4542	-7.6	0	1	dbSNP_134	313	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1514/2392	152325720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325720C>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.4542G>A	1.37:g.152325720C>T						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1514S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4614	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1514					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4542G>A	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1456	0	0	0	1	0	9	1456					T	152325720	C	T	152325720	2	4	64	1	0	0	0	0	0	0	0	1	5948	755	27	1		1	FLG2	1	152325720	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	239165	152325720	96924901	15	7598											
SPRR4	163778	broad.mit.edu	37	chr1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-													tcttcccagcagcagcagcgGcagcagcagcagtgcccacc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	634						7	634	---	---	---	---	-	152944392	GCA	-	152944390	7	5	64	1	0	1	0	1	0	0	0	0	15156	1190	42	0	26	0	SPRR4	1	152944390	In_Frame_Del	DEL	GCA	TCGA-H8-A6C1-01A-11D-A32N-08	618670	152944390	96306231	16	7599											
DENND4B	9909	broad.mit.edu	37	chr1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgagttccaaggggtggCccccagcagaagcctggatg	14	12	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGGTGGCCCCCAGCAGA	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(220-222)gGc>gTc		DENN/MADD domain containing 4B							37	43	41					1																	153916630		1960	4151	6111	SO:0001583	missense	9909							g.chr1:153916630C>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.221G>T	1.37:g.153916630C>A	ENSP00000354597:p.Gly74Val						p.G74V	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	639	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		74			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.221G>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869151	0.72065	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.26957	1.7;1.7	4.16	4.16	0.48862	MABP domain (1);	.	.	.	.	T	0.44973	0.1319	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51545	-0.8692	9	0.87932	D	0	-4.3181	15.7271	0.77770	0.0:1.0:0.0:0.0	.	74	O75064	DEN4B_HUMAN	V	74;85	ENSP00000354597:G74V;ENSP00000357635:G85V	ENSP00000354597:G74V	G	-	2	0	DENND4B	152183254	1.000000	0.71417	0.999000	0.59377	0.494000	0.33585	5.711000	0.68400	2.310000	0.77875	0.462000	0.41574	GGC		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	163	1	0	1.12685e-05	1	1.19422e-05	7	163					A	153916630	C	A	153916630	3	1	64	1	0	0	0	0	1	0	0	0	4450	739	26	3	4377	3	DENND4B	1	153916630	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	972240	153916630	95333991	17	7600											
RIT1	6016	broad.mit.edu	37	chr1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-													ttagcctcttccatacactgTttttgggcttagattttttc					rs372170139		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(601-603)acfs		Ras-like without CAAX 1							302	310	308					1																	155870237		2203	4300	6503	SO:0001589	frameshift_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870237delT	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.602delA	1.37:g.155870237delT	ENSP00000357306:p.Asn201fs					RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	p.N201fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	806	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		201					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Frame_Shift_Del	DEL	ENST00000368323.3	37	c.602delA	CCDS1123.1																																																																																				0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		8	1756						8	1756	---	---	---	---	-	155870237	T	-	155870237	7	5	64	1	0	1	0	1	0	0	0	0	13436	1725	60	0	61	0	RIT1	1	155870237	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	1953607	155870237	93380384	18	7601											
FCRLB	127943	broad.mit.edu	37	chr1	161696656	161696656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccgcgcggtgcgccgcttCgactggggcgccgagtacac	16	15	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:161696656C>A	ENST00000367948.2	+	7	953	c.738C>A	c.(736-738)ttC>ttA	p.F246L	FCRLB_ENST00000367946.3_Nonsense_Mutation_p.S198*|FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Silent_p.R212R			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	246					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGCGCCGCTTCGACTGGGGCG	0.687																																						ENST00000367946.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(592-594)tCg>tAg		Fc receptor-like B							8	10	9					1																	161696656		2176	4273	6449	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161696656C>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.738C>A	1.37:g.161696656C>A	ENSP00000356925:p.Phe246Leu					FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367948.2_Missense_Mutation_p.F246L|FCRLB_ENST00000336830.5_Silent_p.R212R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR	p.S198*			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	607	+	all_hematologic(112;0.0359)		309					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	ENST00000367948.2	37	c.593C>A	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.331949|5.331949	0.95733|0.95733	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000367946;ENST00000367945	D;D|.	0.97186|.	-4.28;-4.28|.	4.43|4.43	0.293|0.293	0.15742|0.15742	.|.	0.715847|.	0.12717|.	N|.	0.444983|.	T|.	0.40670|.	0.1126|.	M|M	0.85542|0.85542	2.76|2.76	0.31219|0.31219	N|N	0.697653|0.697653	B|.	0.24426|.	0.103|.	B|.	0.20577|.	0.03|.	T|.	0.39542|.	-0.9609|.	10|.	0.22706|0.62326	T|D	0.39|0.03	.|.	3.0548|3.0548	0.06181|0.06181	0.0:0.4076:0.2231:0.3693|0.0:0.4076:0.2231:0.3693	.|.	246|.	Q6BAA4|.	FCRLB_HUMAN|.	L|X	246|198;191	ENSP00000356925:F246L;ENSP00000375999:F246L|.	ENSP00000356925:F246L|ENSP00000356922:S191X	F|S	+|+	3|2	2|0	FCRLB|FCRLB	159963280|159963280	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	-0.204000|-0.204000	0.09425|0.09425	0.324000|0.324000	0.23333|0.23333	0.555000|0.555000	0.69702|0.69702	TTC|TCG		0.687	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		12	61	1	0	0.00136819	1	0.00141914	12	61					A	161696656	C	A	161696656	3	1	64	1	0	0	0	0	1	0	0	0	5826	883	31	3	756	3	FCRLB	1	161696656	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	5826419	161696656	87553965	19	7602											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		12	212						12	212	---	---	---	---	-	200842778	TGC	-	200842776	7	5	64	1	0	1	0	1	0	0	0	0	6712	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-H8-A6C1-01A-11D-A32N-08	39146120	200842776	48407845	20	7603											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-													actcgctccgacttaggcctTggtggtggtggtggaagaga							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1405-1410)caa>ca		RAB11 family interacting protein 5 (class I)																																				SO:0001651	inframe_deletion	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315337_73315339delTGG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1407_1409delCCA	2.37:g.73315346_73315348delTGG	ENSP00000258098:p.His469del					RAB11FIP5_ENST00000493523.2_5'UTR	p.HQ469del	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1647_1649	-			469					O94939|Q9P0M1	In_Frame_Del	DEL	ENST00000258098.6	37	c.1407_1409delCCA	CCDS1923.1																																																																																				0.635	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		7	944						7	944	---	---	---	---	-	73315339	TGG	-	73315337	7	5	64	1	0	1	0	1	0	0	0	0	12947	1812	63	0	564	0	RAB11FIP5	2	73315337	In_Frame_Del	DEL	TGG	TCGA-H8-A6C1-01A-11D-A32N-08		73315337	169884036	21	7604											
RGPD3	653489	broad.mit.edu	37	chr2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttttatttctgaatccGcatttcgcaaagaaccattt	5	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gCg>gTg		RANBP2-like and GRIP domain containing 3							90	75	80					2																	107049632		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049632G>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val					RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2402	-			772					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2315C>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	1051	0	0	0	1	0	8	1051					A	107049632	G	A	107049632	3	1	64	1	0	0	0	0	1	0	0	0	13337	1087	38	1	2993	1	RGPD3	2	107049632	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	33734295	107049632	136149741	22	7605											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521591	125521591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcattttatacagaagcCtcttacctccactttcctac	3	14	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:125521591C>T	ENST00000431078.1	+	16	2761	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	799	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		ATACAGAAGCCTCTTACCTCC	0.428																																						ENST00000431078.1																			0				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						c.(2395-2397)gcC>gcT		contactin associated protein-like 5							133	126	128					2																	125521591		1854	4094	5948	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521591C>T	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.2397C>T	2.37:g.125521591C>T							p.A799A	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2761	+			799			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2397C>T	CCDS46401.1																																																																																				0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			5	359	0	0	0	1	0	5	359					T	125521591	C	T	125521591	2	4	64	1	0	0	0	0	0	0	0	1	3659	668	24	2		2	CNTNAP5	2	125521591	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	18471959	125521591	117677782	23	7606											
ANKAR	150709	broad.mit.edu	37	chr2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttccacacatttagccGtaaaacctcaagctcaacaa	4	12	2	0	rs368091573		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACATTTAGCCGTAAAACCTCA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1555-1557)cGt>cAt		ankyrin and armadillo repeat containing		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	131	132		1556	5.3	1	2	dbSNP_132	132	0,8600		0,0,4300	no	missense	ANKAR	NM_144708.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	519/1435	190560943	1,13005	2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190560943G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1556G>A	2.37:g.190560943G>A	ENSP00000427882:p.Arg519His					ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H	p.R519H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1644	+			519					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1556G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605014	0.66445	2.27E-4	0.0	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.26	5.26	0.73747	.	0.258488	0.27996	N	0.017011	T	0.52805	0.1757	L	0.34521	1.04	0.46356	D	0.999003	.	.	.	.	.	.	T	0.54503	-0.8284	8	0.59425	D	0.04	-13.6005	17.6415	0.88138	0.0:0.0:1.0:0.0	.	.	.	.	H	519;519;519;448;283	ENSP00000427882:R519H;ENSP00000313513:R519H;ENSP00000397243:R519H;ENSP00000393043:R448H;ENSP00000281412:R283H	ENSP00000281412:R283H	R	+	2	0	ANKAR	190269188	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.017000	0.64047	2.456000	0.83038	0.557000	0.71058	CGT		0.378	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		6	458	0	0	0	1	0	6	458					A	190560943	G	A	190560943	3	1	64	1	0	0	0	0	1	0	0	0	623	1145	40	1	1578	1	ANKAR	2	190560943	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	65039352	190560943	52638430	24	7607											
NRP2	8828	broad.mit.edu	37	chr2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtatacccggagaggtgGtcgccggcggggattgggat	20	8	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000357785.5	+	10	1765	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGAGAGGTGGTCGCCGGCGG	0.582																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1732-1734)tgG>tgA		neuropilin 2							80	75	77					2																	206610562		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206610562G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1734G>A	2.37:g.206610562G>A	ENSP00000350432:p.Trp578*					NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*	p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			10	2525	+			578			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.1734G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	45	11.386633	0.99554	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0155	19.648	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	ENSP00000272849:W578X	W	+	3	0	NRP2	206318807	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.886000	0.87288	2.637000	0.89404	0.655000	0.94253	TGG		0.582	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			57	184	0	0	0	1	0	57	184					A	206610562	G	A	206610562	4	1	64	1	0	0	0	0	0	1	0	0	10703	1270	44	2	1799	2	NRP2	2	206610562	Nonsense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	16049619	206610562	36588811	25	7608											
CRYGA	1418	broad.mit.edu	37	chr2	209025627	209025627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctcagcagatactgCcgcccccggtagttgggcat	12	15	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:209025627C>T	ENST00000304502.4	-	3	445	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCAGATACTGCCGCCCCCGGT	0.577																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(424-426)cgG>cgA		crystallin, gamma A							85	89	87					2																	209025627		2203	4300	6503	SO:0001819	synonymous_variant	1418							g.chr2:209025627C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.426G>A	2.37:g.209025627C>T							p.R142R	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	445	-								Q53ST5	Silent	SNP	ENST00000304502.4	37	c.426G>A	CCDS33367.1																																																																																				0.577	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		7	681	0	0	0	1	0	7	681					T	209025627	C	T	209025627	2	4	64	1	0	0	0	0	0	0	0	1	3923	726	26	2		2	CRYGA	2	209025627	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2415065	209025627	34173746	26	7609											
ZNF142	7701	broad.mit.edu	37	chr2	219507509	219507509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccttaaccggtgcaagcGcagtttcgagttggtaccaa	10	11	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:219507509G>A	ENST00000449707.1	-	8	4151	c.3730C>T	c.(3730-3732)Cgc>Tgc	p.R1244C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1244C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTGCAAGCGCAGTTTCGAG	0.542																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3730-3732)Cgc>Tgc		zinc finger protein 142							105	114	111					2																	219507509		2121	4232	6353	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507509G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3730C>T	2.37:g.219507509G>A	ENSP00000408643:p.Arg1244Cys					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1244C	p.R1244C			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4509	-		Renal(207;0.0474)	1244					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3730C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715052	0.89112	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.61510	0.1;0.1	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72398	-0.4306	10	0.56958	D	0.05	-53.5349	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1244;1081	P52746;A8MWU9	ZN142_HUMAN;.	C	1244	ENSP00000408643:R1244C;ENSP00000398798:R1244C	ENSP00000398798:R1244C	R	-	1	0	ZNF142	219215753	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	7.406000	0.80017	2.837000	0.97791	0.655000	0.94253	CGC		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		6	779	0	0	0	1	0	6	779					A	219507509	G	A	219507509	3	1	64	1	0	0	0	0	1	0	0	0	17784	1087	38	1	1345	1	ZNF142	2	219507509	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	10481882	219507509	23691864	27	7610											
TMEM40	55287	broad.mit.edu	37	chr3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-													atgaggaggatgaggaggaaGaggaggaggaggaagaagac							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	769						7	769	---	---	---	---	-	12790200	GAG	-	12790198	7	5	64	1	0	1	0	1	0	0	0	0	16215	942	33	0	574	0	TMEM40	3	12790198	In_Frame_Del	DEL	GAG	TCGA-H8-A6C1-01A-11D-A32N-08		12790198	185232232	28	7611											
LIMD1	8994	broad.mit.edu	37	chr3	45637462	45637462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggttcacagcagggtgCggtccctgggctggggccga	19	11	1	0	rs371029378		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:45637462C>T	ENST00000273317.4	+	1	1112	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	364					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAGCAGGGTGCGGTCCCTGGG	0.632																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1090-1092)gCg>gTg		LIM domains containing 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66	65	65		1091	-0.5	0	3		65	0,8600		0,0,4300	no	missense	LIMD1	NM_014240.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	364/677	45637462	1,13005	2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637462C>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1091C>T	3.37:g.45637462C>T	ENSP00000273317:p.Ala364Val					LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron	p.A364V	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1112	+			364					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1091C>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	C	4.329	0.060465	0.08339	2.27E-4	0.0	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57907	0.37;0.57	4.51	-0.47	0.12131	.	1.995580	0.02416	N	0.082088	T	0.34687	0.0906	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09079	-1.0691	10	0.22109	T	0.4	.	5.4033	0.16308	0.0:0.4736:0.1363:0.3901	.	364	Q9UGP4	LIMD1_HUMAN	V	364	ENSP00000394537:A364V;ENSP00000273317:A364V	ENSP00000273317:A364V	A	+	2	0	LIMD1	45612466	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.016000	0.12613	-0.337000	0.08426	0.655000	0.94253	GCG		0.632	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		5	266	0	0	0	1	0	5	266					T	45637462	C	T	45637462	3	4	64	1	0	0	0	0	1	0	0	0	8830	768	27	1	1093	1	LIMD1	3	45637462	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	32847264	45637462	152384968	29	7612											
LAMB2	3913	broad.mit.edu	37	chr3	49168195	49168195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaggcatgactatggccGtcctcagccggacgccaggg	13	14	1	1	rs150731491		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:49168195G>A	ENST00000418109.1	-	9	1178	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	LAMB2_ENST00000305544.4_Silent_p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	338	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTATGGCCGTCCTCAGCCG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.0		0.001	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1012-1014)gaC>gaT		laminin, beta 2 (laminin S)		G		1,4405	2.1+/-5.4	0,1,2202	144	138	140		1014	-9	0.7	3	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	LAMB2	NM_002292.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		338/1799	49168195	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168195G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1014C>T	3.37:g.49168195G>A						LAMB2_ENST00000305544.4_Silent_p.D338D	p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1178	-			338			Laminin EGF-like 1.		Q16321	Silent	SNP	ENST00000418109.1	37	c.1014C>T	CCDS2789.1																																																																																				0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		6	687	0	0	0	1	0	6	687					A	49168195	G	A	49168195	2	1	64	1	0	0	0	0	0	0	0	1	8642	1136	40	1		1	LAMB2	3	49168195	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3530733	49168195	148854235	30	7613											
IFRD2	7866	broad.mit.edu	37	chr3	50329757	50329757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacccggtgggtgtgggCtccaggccaacgagacgccg	18	12	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:50329757C>T	ENST00000429673.2	-	1	140	c.141G>A	c.(139-141)gaG>gaA	p.E47E	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.E149E|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	47						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTGTGGGCTCCAGGCCAA	0.756																																						ENST00000336089.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(445-447)gaG>gaA		interferon-related developmental regulator 2							4	9	7					3																	50329757		876	1926	2802	SO:0001819	synonymous_variant	7866						binding	g.chr3:50329757C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.141G>A	3.37:g.50329757C>T						IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000429673.2_Silent_p.E47E	p.E149E			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	446	-			47					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.447G>A	CCDS46831.1																																																																																				0.756	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		8	29	0	0	0	1	0	8	29					T	50329757	C	T	50329757	2	4	64	1	0	0	0	0	0	0	0	1	7584	796	28	2		2	IFRD2	3	50329757	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	1161562	50329757	147692673	31	7614											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	821						7	821	---	---	---	---	-	150877786	C	-	150877786	7	5	64	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-H8-A6C1-01A-11D-A32N-08	100548029	150877786	47144644	32	7615											
ECE2	9718	broad.mit.edu	37	chr3	184009866	184009866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtggtgctcggtccGcacaccagagagctctcacg	14	13	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:184009866G>A	ENST00000402825.3	+	19	2492	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	831	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.R684H(1)|p.R759H(1)|p.R831H(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)			TGCTCGGTCCGCACACCAGAG	0.662																																						ENST00000402825.3																			3	Substitution - Missense(3)	p.R684H(1)|p.R759H(1)|p.R831H(1)	breast(3)	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						c.(2491-2493)cGc>cAc		endothelin converting enzyme 2							37	38	38					3																	184009866		2203	4299	6502	SO:0001583	missense	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.chr3:184009866G>A	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.2492G>A	3.37:g.184009866G>A	ENSP00000384223:p.Arg831His					ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	p.R831H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2492	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		831			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2492G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863047	0.91511	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.964;1.0;1.0;1.0	B;D;D;D	0.75020	0.418;0.984;0.971;0.985	D	0.90975	0.4823	10	0.18276	T	0.48	-16.7804	15.5139	0.75806	0.0:0.0:1.0:0.0	.	713;759;684;831	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	H	831;684;713;759	ENSP00000384223:R831H;ENSP00000352052:R684H;ENSP00000385846:R713H;ENSP00000350066:R759H	ENSP00000350066:R759H	R	+	2	0	ECE2	185492560	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.925000	0.63425	2.515000	0.84797	0.491000	0.48974	CGC		0.662	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		5	287	0	0	0	1	0	5	287					A	184009866	G	A	184009866	3	1	64	1	0	0	0	0	1	0	0	0	4906	1087	38	1	3130	1	ECE2	3	184009866	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	33132080	184009866	14012564	33	7616											
CPN2	1370	broad.mit.edu	37	chr3	194062235	194062235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggccaggtggcagtcGcactgccaggggttaccgtg	17	10	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGGCAGTCGCACTGCCAGG	0.597																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1195-1197)tgC>tgT		carboxypeptidase N, polypeptide 2							74	78	77					3																	194062235		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062235G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1197C>T	3.37:g.194062235G>A						CPN2_ENST00000429275.1_Silent_p.C399C	p.C399C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1286	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		399			LRRCT.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1197C>T	CCDS33920.1																																																																																				0.597	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		67	234	0	0	0	1	0	67	234					A	194062235	G	A	194062235	2	1	64	1	0	0	0	0	0	0	0	1	3819	1079	38	1		1	CPN2	3	194062235	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	10052369	194062235	3960195	34	7617											
APOD	347	broad.mit.edu	37	chr3	195295972	195295972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcatagttctcatagtcGgtggccaggatccagtacgg	14	9	1	0	rs138771984	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:195295972G>A	ENST00000343267.3	-	5	730	c.369C>T	c.(367-369)acC>acT	p.T123T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	123					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTCATAGTCGGTGGCCAGGA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		17644	0.0		0.0	False		,,,				2504	0.002					ENST00000343267.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)acC>acT		apolipoprotein D		G		1,4405	2.1+/-5.4	0,1,2202	120	117	118		369	0.8	1	3	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOD	NM_001647.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		123/190	195295972	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195295972G>A		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.369C>T	3.37:g.195295972G>A							p.T123T	NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	5	730	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	123					B2R579|D3DNW6|Q6IBG6	Silent	SNP	ENST00000343267.3	37	c.369C>T	CCDS33925.1																																																																																				0.493	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		5	450	0	0	0	1	0	5	450					A	195295972	G	A	195295972	2	1	64	1	0	0	0	0	0	0	0	1	801	1103	39	1		1	APOD	3	195295972	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1233737	195295972	2726458	35	7618											
DRD5	1816	broad.mit.edu	37	chr4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcgctgctggtcatGccctggaaggcagtcgccga	15	12	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGCTGGTCATGCCCTGGAAGG	0.637																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(283-285)atG>atA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783938G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.285G>A	4.37:g.9783938G>A	ENSP00000306129:p.Met95Ile						p.M95I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	681	+			95					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.285G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389198	0.82902	.	.	ENSG00000169676	ENST00000304374	T	0.73363	-0.74	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.72118	2.19	0.80722	D	1	B	0.27068	0.167	B	0.29942	0.109	T	0.76929	-0.2777	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	95	P21918	DRD5_HUMAN	I	95	ENSP00000306129:M95I	ENSP00000306129:M95I	M	+	3	0	DRD5	9393036	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	ATG		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	295	0	0	0	1	0	7	295					A	9783938	G	A	9783938	3	1	64	1	0	0	0	0	1	0	0	0	4776	1319	46	2	287	2	DRD5	4	9783938	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		9783938	181370338	36	7619											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	239						7	239	---	---	---	---	-	56304532	CTG	-	56304530	7	5	64	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-H8-A6C1-01A-11D-A32N-08	46520592	56304530	134849746	37	7620											
PRKG2	5593	broad.mit.edu	37	chr4	82126039	82126039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgacagctgctcccGcagctccttcaaatggtact	8	15	1	0	rs138293539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:82126039G>A	ENST00000395578.1	-	2	279	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W|PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	55					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGCTGCTCCCGCAGCTCCTTC	0.547																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(163-165)Cgg>Tgg		protein kinase, cGMP-dependent, type II		G	TRP/ARG	0,4406		0,0,2203	110	109	109		163	3.3	1	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRKG2	NM_006259.1	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	55/763	82126039	2,13004	2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126039G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.163C>T	4.37:g.82126039G>A	ENSP00000378945:p.Arg55Trp					PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W	p.R55W			Q13237	KGP2_HUMAN			2	279	-			55					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.163C>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843526	0.51057	0.0	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83163	-1.69;-1.69;-1.69	5.1	3.3	0.37823	.	0.121430	0.56097	D	0.000029	T	0.67627	0.2913	N	0.08118	0	0.80722	D	1	P;D	0.53151	0.914;0.958	B;B	0.40741	0.339;0.339	T	0.72763	-0.4195	10	0.87932	D	0	-18.0268	13.5445	0.61695	0.0:0.0:0.7159:0.2841	.	55;55	E7EPE6;Q13237	.;KGP2_HUMAN	W	55	ENSP00000378945:R55W;ENSP00000264399:R55W;ENSP00000389038:R55W	ENSP00000264399:R55W	R	-	1	2	PRKG2	82345063	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.159000	0.50731	0.678000	0.31325	0.585000	0.79938	CGG		0.547	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		5	506	0	0	0	1	0	5	506					A	82126039	G	A	82126039	3	1	64	1	0	0	0	0	1	0	0	0	12570	1086	38	1	2197	1	PRKG2	4	82126039	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	25821509	82126039	109028237	38	7621											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	141	0	0	0	1	0	7	141					T	140811108	C	T	140811108	2	4	64	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	58685069	140811108	50343168	39	7622											
FHDC1	85462	broad.mit.edu	37	chr4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-													tagattttttctgtgaagacAaaaaaaccatgaaactggat							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aaafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1309-1311)aafs		FH2 domain containing 1							98	101	100					4																	153893619		2203	4300	6503	SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893619delA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1309delA	4.37:g.153893619delA	ENSP00000427567:p.Lys438fs					FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs	p.K438fs			Q9C0D6	FHDC1_HUMAN			11	1497	+	all_hematologic(180;0.093)		438			FH2.			Frame_Shift_Del	DEL	ENST00000511601.1	37	c.1309delA	CCDS34081.1																																																																																				0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	1882						7	1882	---	---	---	---	-	153893619	A	-	153893619	7	5	64	1	0	1	0	1	0	0	0	0	5901	131	5	0	1347	0	FHDC1	4	153893619	Frame_Shift_Del	DEL	A	TCGA-H8-A6C1-01A-11D-A32N-08	13082511	153893619	37260657	40	7623											
CEP72	55722	broad.mit.edu	37	chr5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-													cctgcaaagccgccttgctgAgcagcagcagcagcacgccc					rs141221365		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		9	338						9	338	---	---	---	---	-	640651	AGC	-	640649	7	5	64	1	0	1	0	1	0	0	0	0	3269	304	11	0	1503	0	CEP72	5	640649	In_Frame_Del	DEL	AGC	TCGA-H8-A6C1-01A-11D-A32N-08		640649	180274611	41	7624											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	626						7	626	---	---	---	---	-	32090061	TCC	-	32090059	7	5	64	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-H8-A6C1-01A-11D-A32N-08	31449410	32090059	148825201	42	7625											
WDR70	55100	broad.mit.edu	37	chr5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagaggatgtggcagcgGcaaacttgttttctttgagc	12	7	2	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1351-1353)gGc>gAc		WD repeat domain 70							119	109	112					5																	37703125		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37703125G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1352G>A	5.37:g.37703125G>A	ENSP00000265107:p.Gly451Asp						p.G451D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1508	+	all_lung(31;0.000285)		451					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1352G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254750	0.95336	.	.	ENSG00000082068	ENST00000265107	T	0.02369	4.32	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00351	-1.1796	10	0.59425	D	0.04	-20.8732	19.6155	0.95632	0.0:0.0:1.0:0.0	.	451	Q9NW82	WDR70_HUMAN	D	451	ENSP00000265107:G451D	ENSP00000265107:G451D	G	+	2	0	WDR70	37738882	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.891000	0.92485	2.801000	0.96364	0.650000	0.86243	GGC		0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		6	402	0	0	0	1	0	6	402					A	37703125	G	A	37703125	3	1	64	1	0	0	0	0	1	0	0	0	17375	1203	42	2	1402	2	WDR70	5	37703125	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5613066	37703125	143212135	43	7626											
LOC153328	153328	broad.mit.edu	37	chr5	135188312	135188312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgccgtctacaactccGtggtgtttggggtcttcagt	12	10	3	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135188312G>A	ENST00000420621.1	+	4	395	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000274513.5_Missense_Mutation_p.V75M|SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	75					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CTACAACTCCGTGGTGTTTGG	0.617																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(223-225)Gtg>Atg		solute carrier family 25, member 48							123	131	128					5																	135188312		2040	4197	6237	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188312G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.223G>A	5.37:g.135188312G>A	ENSP00000407973:p.Val75Met					SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000420621.1_Missense_Mutation_p.V75M|SLC25A48_ENST00000425402.1_Intron	p.V75M			Q6ZT89	S2548_HUMAN			4	395	+			75					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.223G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078213	0.76528	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.80566	-1.39;-1.39;-1.35;-1.39	5.08	5.08	0.68730	.	0.063063	0.64402	D	0.000004	D	0.85344	0.5675	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.988;0.996	P;P	0.56648	0.63;0.803	D	0.86464	0.1781	10	0.56958	D	0.05	-25.7293	18.4819	0.90815	0.0:0.0:1.0:0.0	.	75;75	Q6ZT89-3;Q6ZT89-2	.;.	M	75;75;21;75	ENSP00000274513:V75M;ENSP00000407973:V75M;ENSP00000399834:V21M;ENSP00000413049:V75M	ENSP00000274513:V75M	V	+	1	0	SLC25A48	135216211	1.000000	0.71417	0.911000	0.35937	0.938000	0.57974	3.128000	0.50492	2.359000	0.80004	0.462000	0.41574	GTG		0.617	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		6	766	0	0	0	1	0	6	766					A	135188312	G	A	135188312	3	1	64	1	0	0	0	0	1	0	0	0	8906	1145	40	1	237	1	LOC153328	5	135188312	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	97485187	135188312	45726948	44	7627											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	876	0	0	0	1	0	6	876					A	135390519	G	A	135390519	3	1	64	1	0	0	0	0	1	0	0	0	15872	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	202207	135390519	45524741	45	7628											
PCDHA9	9752	broad.mit.edu	37	chr5	140228551	140228551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtttccactagagggcgcGtccgatgcagatatcgggga	15	10	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000532602.1	+	1	1504	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A157A|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	157	Cadherin 2. {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)			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)			TAGAGGGCGCGTCCGATGCAG	0.537																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(469-471)gcG>gcA									43	41	41					5																	140228551		2197	4279	6476	SO:0001819	synonymous_variant	0							g.chr5:140228551G>A	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.471G>A	5.37:g.140228551G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A157A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A157A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1195	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.471G>A	CCDS54920.1																																																																																				0.537	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		50	255	0	0	0	1	0	50	255					A	140228551	G	A	140228551	2	1	64	1	0	0	0	0	0	0	0	1	11573	1132	40	1		1	PCDHA9	5	140228551	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	4838032	140228551	40686709	46	7629											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgagctggggactgCcgttgccctgatcaaaacac	12	11	1	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1093-1095)gCc>gTc									41	42	42					5																	140751055		1926	4142	6068	SO:0001583	missense	0							g.chr5:140751055C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1094C>T	5.37:g.140751055C>T	ENSP00000461862:p.Ala365Val					PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A365V	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1225	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1094C>T	CCDS58980.1																																																																																				0.408	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		6	149	0	0	0	1	0	6	149					T	140751055	C	T	140751055	3	4	64	1	0	0	0	0	1	0	0	0	11606	739	26	2	1096	2	PCDHGB3	5	140751055	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	522504	140751055	40164205	47	7630											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793857	140793857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaacagtcgtagcccTtttaaatgtgcatgatttag	10	7	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140793857T>C	ENST00000398610.2	+	1	1115	c.1115T>C	c.(1114-1116)cTt>cCt	p.L372P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGTAGCCCTTTTAAATGTG	0.398																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1114-1116)cTt>cCt									69	68	69					5																	140793857		1912	4120	6032	SO:0001583	missense	0							g.chr5:140793857T>C		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1115T>C	5.37:g.140793857T>C	ENSP00000381611:p.Leu372Pro					PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron	p.L372P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1115	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1115T>C	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	16.19	3.053234	0.55218	.	.	ENSG00000253846	ENST00000398610	T	0.52754	0.65	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78786	0.4338	H	0.96691	3.865	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.86326	0.1695	9	0.87932	D	0	.	14.7125	0.69244	0.0:0.0:0.0:1.0	.	372;372	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	372	ENSP00000381611:L372P	ENSP00000381611:L372P	L	+	2	0	PCDHGA10	140774041	0.873000	0.30073	0.996000	0.52242	0.668000	0.39293	5.180000	0.65048	1.949000	0.56562	0.528000	0.53228	CTT		0.398	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		4	163	0	0	0	1	0	4	163					C	140793857	T	C	140793857	3	2	64	1	0	0	0	0	1	0	0	0	11593	1609	56	4	1117	4	PCDHGA10	5	140793857	Missense_Mutation	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	42802	140793857	40121403	48	7631											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114296	27114296	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcgcacggccgtctggatCtccctggaggtgatggtcga	16	11	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:27114296C>G	ENST00000356950.1	-	1	281	c.282G>C	c.(280-282)gaG>gaC	p.E94D	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.E94D|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	94					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)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCGTCTGGATCTCCCTGGAGG	0.612																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(280-282)gaG>gaC		histone cluster 1, H2bk							60	66	64					6																	27114296		2203	4294	6497	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114296C>G	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.282G>C	6.37:g.27114296C>G	ENSP00000349430:p.Glu94Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E94D	p.E94D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	323	-			94					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.282G>C	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	19.09	3.760332	0.69763	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.44881	0.91;0.91	4.05	3.18	0.36537	Histone-fold (2);Histone core (1);	0.000000	0.38605	U	0.001623	T	0.39091	0.1065	M	0.75884	2.315	0.39826	D	0.972905	P	0.41313	0.745	P	0.48524	0.58	T	0.42327	-0.9458	10	0.66056	D	0.02	.	10.2352	0.43280	0.0:0.8974:0.0:0.1026	.	94	O60814	H2B1K_HUMAN	D	94	ENSP00000380100:E94D;ENSP00000349430:E94D	ENSP00000349430:E94D	E	-	3	2	HIST1H2BK	27222275	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.351000	0.66022	1.009000	0.39289	0.650000	0.86243	GAG		0.612	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		5	603	0	0	0	1	0	5	603					G	27114296	C	G	27114296	3	3	64	1	0	0	0	0	1	0	0	0	7180	912	32	5	102	5	HIST1H2BK	6	27114296	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		27114296	144000771	49	7632											
SCAND3	114821	broad.mit.edu	37	chr6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttagactttaatgaccGcaaaaaagttaactttgtac	5	8	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47	50	49					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp						p.R407W	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	277	0	0	0	1	0	5	277					A	28543263	G	A	28543263	3	1	64	1	0	0	0	0	1	0	0	0	13926	1086	38	1	2766	1	SCAND3	6	28543263	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1428967	28543263	142571804	50	7633											
AARS2	57505	broad.mit.edu	37	chr6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccactgataccacccGcacagggtctgggtaaacct	8	17	1	1	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATACCACCCGCACAGGGTCT	0.607													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18526	0.0		0.0	False		,,,				2504	0.0					ENST00000244571.4																			1	Substitution - Missense(1)	p.R722W(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2164-2166)Cgg>Tgg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)	G	TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	56	56	56		2164	5.3	1	6	dbSNP_134	56	0,8600		0,0,4300	yes	missense	AARS2	NM_020745.2	101	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging	722/986	44270894	11,12995	2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270894G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2164C>T	6.37:g.44270894G>A	ENSP00000244571:p.Arg722Trp					TMEM151B_ENST00000438774.2_Intron	p.R722W	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2166	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		722						Missense_Mutation	SNP	ENST00000244571.4	37	c.2164C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236023	0.79800	0.002497	0.0	ENSG00000124608	ENST00000244571	T	0.73681	-0.77	5.26	5.26	0.73747	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91733	0.5398	10	0.87932	D	0	-39.3663	14.8879	0.70584	0.0:0.0:0.8479:0.1521	.	722	Q5JTZ9	SYAM_HUMAN	W	722	ENSP00000244571:R722W	ENSP00000244571:R722W	R	-	1	2	AARS2	44378872	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	3.161000	0.50747	2.733000	0.93635	0.655000	0.94253	CGG		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		6	238	0	0	0	1	0	6	238					A	44270894	G	A	44270894	3	1	64	1	0	0	0	0	1	0	0	0	20	1086	38	1	821	1	AARS2	6	44270894	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	15727631	44270894	126844173	51	7634											
BCKDHB	594	broad.mit.edu	37	chr6	80878728	80878728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctgaagcattttttgCccattgcccaggaatcaagg	10	10	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:80878728C>T	ENST00000320393.6	+	5	661	c.614C>T	c.(613-615)gCc>gTc	p.A205V	BCKDHB_ENST00000545529.1_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V|BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	205					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCATTTTTTGCCCATTGCCCA	0.393																																						ENST00000545529.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(613-615)gCc>gTc		branched chain keto acid dehydrogenase E1, beta polypeptide							141	140	140					6																	80878728		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878728C>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.614C>T	6.37:g.80878728C>T	ENSP00000318351:p.Ala205Val					BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V|BCKDHB_ENST00000320393.6_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V	p.A205V			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	642	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	205					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.614C>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654329	0.88056	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.21	5.21	0.72293	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.95098	0.8228	10	0.54805	T	0.06	-12.0783	17.8034	0.88595	0.0:1.0:0.0:0.0	.	205	P21953	ODBB_HUMAN	V	205;205;205;205;135	ENSP00000358775:A205V;ENSP00000318351:A205V;ENSP00000348880:A205V;ENSP00000443564:A205V	ENSP00000318351:A205V	A	+	2	0	BCKDHB	80935447	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.677000	0.68142	2.444000	0.82710	0.579000	0.79373	GCC		0.393	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		5	413	0	0	0	1	0	5	413					T	80878728	C	T	80878728	3	4	64	1	0	0	0	0	1	0	0	0	1361	739	26	2	632	2	BCKDHB	6	80878728	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	36607834	80878728	90236339	52	7635											
KLHL32	114792	broad.mit.edu	37	chr6	97414940	97414940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacccagctggaaaatgCcgtctgaacgctgcctcagg	12	12	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:97414940C>T	ENST00000369261.4	+	2	367	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	2								p.P2S(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTGGAAAATGCCGTCTGAACG	0.478																																						ENST00000369261.4																			1	Substitution - Missense(1)	p.P2S(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(4-6)Ccg>Tcg		kelch-like family member 32							101	74	83					6																	97414940		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97414940C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.4C>T	6.37:g.97414940C>T	ENSP00000358265:p.Pro2Ser					KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S	p.P2S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	2	367	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	2					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.4C>T	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614806	0.46631	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.75938	-0.72;-0.95;-0.98;-0.87	4.96	4.96	0.65561	.	0.558433	0.18223	N	0.147804	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;P;P	0.58268	0.982;0.759;0.759;0.759	D;B;B;B	0.63033	0.91;0.245;0.328;0.328	T	0.72795	-0.4185	10	0.41790	T	0.15	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	2;2;2;2	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	S	2	ENSP00000358265:P2S;ENSP00000440382:P2S;ENSP00000441527:P2S;ENSP00000358258:P2S	ENSP00000358258:P2S	P	+	1	0	KLHL32	97521661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.640000	0.61368	2.583000	0.87209	0.655000	0.94253	CCG		0.478	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		4	142	0	0	0	1	0	4	142					T	97414940	C	T	97414940	3	4	64	1	0	0	0	0	1	0	0	0	8416	739	26	2	6	2	KLHL32	6	97414940	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	16536212	97414940	73700127	53	7636											
LAMA2	3908	broad.mit.edu	37	chr6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaccaagaatgagtccGgcatcattcttttgggaagt	10	9	3	2	rs200341138		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGAGTCCGGCATCATTCT	0.488																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7681-7683)Ggc>Agc		laminin, alpha 2							156	147	150					6																	129802516		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129802516G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7681G>A	6.37:g.129802516G>A	ENSP00000400365:p.Gly2561Ser					RP1-69D17.3_ENST00000442449.1_RNA	p.G2561S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	55	7730	+			2561			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7681G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383966	0.82792	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	D	0.89875	-2.58	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93996	0.7271	9	.	.	.	.	19.1509	0.93488	0.0:0.0:1.0:0.0	.	2562;2561	A6NF00;P24043	.;LAMA2_HUMAN	S	2561;2560;2561;579	ENSP00000400365:G2561S	.	G	+	1	0	LAMA2	129844209	1.000000	0.71417	0.982000	0.44146	0.337000	0.28794	9.278000	0.95766	2.599000	0.87857	0.563000	0.77884	GGC		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			101	402	0	0	0	1	0	101	402					A	129802516	G	A	129802516	3	1	64	1	0	0	0	0	1	0	0	0	8637	1116	39	1	7899	1	LAMA2	6	129802516	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	32387576	129802516	41312551	54	7637											
ARID1B	57492	broad.mit.edu	37	chr6	157528080	157528080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctctgtgtaccatcgcGcactggcaggactcgctggc	11	15	1	0	rs372334858		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:157528080G>A	ENST00000350026.5	+	19	5767	c.5766G>A	c.(5764-5766)gcG>gcA	p.A1922A	ARID1B_ENST00000346085.5_Silent_p.A1935A|ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5803-5805)gcG>gcA		AT rich interactive domain 1B (SWI1-like)							110	110	110					6																	157528080		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528080G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5766G>A	6.37:g.157528080G>A						ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000350026.5_Silent_p.A1922A	p.A1935A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5806	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1922					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5805G>A	CCDS5251.2																																																																																				0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	508	0	0	0	1	0	6	508					A	157528080	G	A	157528080	2	1	64	1	0	0	0	0	0	0	0	1	914	1074	38	1		1	ARID1B	6	157528080	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	27725564	157528080	13586987	55	7638											
CARD11	84433	broad.mit.edu	37	chr7	2968267	2968267	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctccttgtagcgtctgacGatggagtcgtttcccggggg	14	11	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:2968267G>T	ENST00000396946.4	-	13	2122	c.1719C>A	c.(1717-1719)atC>atA	p.I573I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	573					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I566I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCGTCTGACGATGGAGTCGT	0.642			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		1	Substitution - coding silent(1)	p.I566I(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1717-1719)atC>atA		caspase recruitment domain family, member 11							88	77	81					7																	2968267		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968267G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1719C>A	7.37:g.2968267G>T							p.I573I	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2122	-		Ovarian(82;0.0115)	573					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1719C>A	CCDS5336.2																																																																																				0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	627	1	0	1	1	1	5	627					T	2968267	G	T	2968267	2	4	64	1	0	0	0	0	0	0	0	1	2652	1048	37	3		3	CARD11	7	2968267	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		2968267	156170396	56	7639											
ZNF479	90827	broad.mit.edu	37	chr7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatGtgtagggtctctctccagta	7	12	4	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				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						c.(1396-1398)aCa>aAa		zinc finger protein 479							61	62	61					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	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.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys						p.T466K	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	425	1	0	0.00448238	1	0.00457625	5	425					T	57187725	G	T	57187725	3	4	64	1	0	0	0	0	1	0	0	0	17986	1377	48	3	181	3	ZNF479	7	57187725	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	54219458	57187725	101950938	57	7640											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			10	936	0	0	0	1	0	10	936					G	72398976	A	G	72398976	3	3	64	1	0	0	0	0	1	0	0	0	12281	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	15211251	72398976	86739687	58	7641											
ZAN	7455	broad.mit.edu	37	chr7	100350592	100350592	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatctccccagaaaaacTcaccatccccacagaaaaac	2	18	2	2	rs112032841	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100350592T>C	ENST00000348028.3	+	0	3029				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_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)				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)			CCAGAAAAACTCACCATCCCC	0.512													N|||	10	0.00199681	0.0	0.0043	5008	,	,		19015	0.001		0.005	False		,,,				2504	0.001					ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							235	279	265					7																	100350592		1871	4095	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350592T>C	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.100350592T>C						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3012	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	4.962	0.178753	0.09443	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63417	-0.04;-0.04;-0.04	2.8	2.8	0.32819	.	0.841065	0.09711	N	0.765773	T	0.36468	0.0968	N	0.02960	-0.455	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	8.2876	0.31939	0.0:0.8748:0.0:0.1252	.	955;955	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	955	ENSP00000445943:L955P;ENSP00000445091:L955P;ENSP00000444427:L955P	ENSP00000423579:L955P	L	+	2	0	ZAN	100188528	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.000000	0.12993	0.748000	0.32831	-0.230000	0.12252	CTC		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	619	0	0	0	1	0	14	619					C	100350592	T	C	100350592	1	2	64	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350592	RNA	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	27951616	100350592	58788071	59	7642											
EPHB4	2050	broad.mit.edu	37	chr7	100417815	100417815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaagtacccgacgcgGcactggcagacggctgatcc	14	15	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100417815G>A	ENST00000358173.3	-	5	1380	c.912C>T	c.(910-912)tgC>tgT	p.C304C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	304	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCCGACGCGGCACTGGCAGA	0.642																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(910-912)tgC>tgT		EPH receptor B4							95	107	103					7																	100417815		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417815G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.912C>T	7.37:g.100417815G>A						EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C	p.C304C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			5	1380	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		304			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.912C>T	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		6	807	0	0	0	1	0	6	807					A	100417815	G	A	100417815	2	1	64	1	0	0	0	0	0	0	0	1	5195	1195	42	2		2	EPHB4	7	100417815	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	67223	100417815	58720848	60	7643											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558325	113558325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttaggaacttctttccatgGttttacaggctccggctctt	9	10	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:113558325G>T	ENST00000284601.3	-	1	795	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	243					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTTCCATGGTTTTACAGGC	0.313																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(727-729)Cca>Aca		protein phosphatase 1, regulatory subunit 3A							107	111	110					7																	113558325		2201	4298	6499	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558325G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.727C>A	7.37:g.113558325G>T	ENSP00000284601:p.Pro243Thr						p.P243T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	795	-			243					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.727C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	3.618	-0.078195	0.07184	.	.	ENSG00000154415	ENST00000284601	T	0.18174	2.23	5.81	3.66	0.41972	.	0.317119	0.29956	N	0.010769	T	0.17023	0.0409	L	0.48642	1.525	0.09310	N	0.999995	B	0.28713	0.22	B	0.29267	0.1	T	0.16837	-1.0389	10	0.62326	D	0.03	-0.5475	12.1833	0.54223	0.0702:0.2266:0.7032:0.0	.	243	Q16821	PPR3A_HUMAN	T	243	ENSP00000284601:P243T	ENSP00000284601:P243T	P	-	1	0	PPP1R3A	113345561	0.185000	0.23213	0.213000	0.23690	0.163000	0.22366	1.606000	0.36826	1.437000	0.47472	0.591000	0.81541	CCA		0.313	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	492	1	0	0.00198382	1	0.0020468	5	492					T	113558325	G	T	113558325	3	4	64	1	0	0	0	0	1	0	0	0	12418	1261	44	3	2657	3	PPP1R3A	7	113558325	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	13140510	113558325	45580338	61	7644											
PBK	55872	broad.mit.edu	37	chr8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T													ctgctatcttaccagatttcINStttttttctgataatttgct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aagfs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322																																						ENST00000301905.4																			2	Substitution - coding silent(2)	p.K17K(2)	lung(2)	endometrium(1)|large_intestine(2)|lung(1)	4						c.(49-51)aaafs		PDZ binding kinase																																				SO:0001589	frameshift_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27690580_27690581insT	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.51dupA	8.37:g.27690587_27690587dupT	ENSP00000301905:p.Lys17fs					PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	2	513_514	-		Ovarian(32;0.000953)	17					B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Frame_Shift_Ins	INS	ENST00000301905.4	37	c.50_51insA	CCDS6063.1																																																																																				0.322	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		22	86						22	86	---	---	---	---	T	27690581	-	T	27690580	7	5	64	1	0	1	1	0	0	0	0	0	11530	912	32	0	945	0	PBK	8	27690580	Frame_Shift_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08		27690580	118673442	62	7645											
MYST3	7994	broad.mit.edu	37	chr8	41794801	41794801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatctgactcttcatcttCttcttcatctttagacttcc	2	13	9	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:41794801C>T	ENST00000396930.3	-	17	3868	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1109					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTTCATCTTCTTCTTCATCT	0.403																																						ENST00000396930.3																			0											c.(3325-3327)Gaa>Aaa		K(lysine) acetyltransferase 6A							114	111	112					8																	41794801		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41794801C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3325G>A	8.37:g.41794801C>T	ENSP00000380136:p.Glu1109Lys					KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K	p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			17	3868	-			1109					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3325G>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221713	0.58560	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59224	0.28;0.28;0.28	5.63	5.63	0.86233	.	0.572288	0.16272	N	0.221734	T	0.47210	0.1433	L	0.34521	1.04	0.52099	D	0.999942	B	0.20780	0.048	B	0.18263	0.021	T	0.39078	-0.9631	10	0.09084	T	0.74	-1.715	17.8777	0.88830	0.0:1.0:0.0:0.0	.	1109	Q92794	KAT6A_HUMAN	K	1109;1109;1109;689	ENSP00000265713:E1109K;ENSP00000385888:E1109K;ENSP00000380136:E1109K	ENSP00000265713:E1109K	E	-	1	0	KAT6A	41913958	0.978000	0.34361	0.988000	0.46212	0.906000	0.53458	4.279000	0.58953	2.663000	0.90544	0.650000	0.86243	GAA		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		45	212	0	0	0	1	0	45	212					T	41794801	C	T	41794801	3	4	64	1	0	0	0	0	1	0	0	0	10145	922	32	2	2697	2	MYST3	8	41794801	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	14104221	41794801	104569221	63	7646											
MSC	9242	broad.mit.edu	37	chr8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccagtccgatttaagCggtggttccacatagtctgt	11	9	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000537896.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493																																						ENST00000325509.4																			2	Substitution - Missense(2)	p.A206T(2)	lung(2)	endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(616-618)Gct>Act		musculin							380	380	380					8																	72754901		1955	4138	6093	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754901C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.616G>A	8.37:g.72754901C>T	ENSP00000321445:p.Ala206Thr					MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.A206T	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	905	-	Breast(64;0.176)		206					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.616G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491239	0.96339	.	.	ENSG00000178860	ENST00000325509	D	0.98400	-4.91	4.88	4.88	0.63580	.	0.695786	0.13008	N	0.421069	D	0.98245	0.9419	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98863	1.0763	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	206	O60682	MUSC_HUMAN	T	206	ENSP00000321445:A206T	ENSP00000321445:A206T	A	-	1	0	MSC	72917455	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.805000	0.75191	2.559000	0.86315	0.462000	0.41574	GCT		0.493	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		315	1295	0	0	0	1	0	315	1295					T	72754901	C	T	72754901	3	4	64	1	0	0	0	0	1	0	0	0	9909	768	27	1	8	1	MSC	8	72754901	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	30960100	72754901	73609121	64	7647											
RGS22	26166	broad.mit.edu	37	chr8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-													tgttggttttagatgggtccTtttttgtcctagggtgaact							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132	137	136					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	879						8	879	---	---	---	---	-	101076229	T	-	101076229	7	5	64	1	0	1	0	1	0	0	0	0	13355	1609	56	0	3107	0	RGS22	8	101076229	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	28321328	101076229	45287793	65	7648											
RIMS2	9699	broad.mit.edu	37	chr8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaagttctgtgctcGttgtggaggtcgagtgtcat	12	8	2	0	rs377666095		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			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)			TTCTGTGCTCGTTGTGGAGGT	0.413										HNSCC(12;0.0054)																												ENST00000406091.3																			0				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						c.(352-354)cGt>cAt		regulating synaptic membrane exocytosis 2		G	HIS/ARG	1,3917		0,1,1958	202	194	197		353	5.5	1	8		197	0,8322		0,0,4161	no	missense	RIMS2	NM_001100117.2	29	0,1,6119	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging	118/1350	104709490	1,12239	1959	4161	6120	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709490G>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		ENST00000406091.3:c.353G>A	8.37:g.104709490G>A	ENSP00000384892:p.Arg118His	HNSCC(12;0.0054)					p.R118H	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	353	+			149			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.353G>A	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260075	0.95368	2.55E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.77620	-1.11;-1.11	5.49	5.49	0.81192	.	.	.	.	.	D	0.90428	0.7003	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91861	0.5499	9	0.87932	D	0	.	19.3601	0.94434	0.0:0.0:1.0:0.0	.	118	F8WD47	.	H	118;149;118;149	ENSP00000427018:R118H;ENSP00000384892:R118H	ENSP00000332184:R149H	R	+	2	0	RIMS2	104778666	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.869000	0.99810	2.559000	0.86315	0.462000	0.41574	CGT		0.413	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		90	363	0	0	0	1	0	90	363					A	104709490	G	A	104709490	3	1	64	1	0	0	0	0	1	0	0	0	13418	1145	40	1	359	1	RIMS2	8	104709490	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3633261	104709490	41654532	66	7649											
RIMS2	9699	broad.mit.edu	37	chr8	105263855	105263855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctggggagattatggccGcatggatcacaaatctttta	11	8	3	1	rs200286153		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:105263855G>A	ENST00000436393.2	+	28	4152	c.3911G>A	c.(3910-3912)cGc>cAc	p.R1304H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1100H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1348	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			GATTATGGCCGCATGGATCAC	0.378										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(3298-3300)cGc>cAc		regulating synaptic membrane exocytosis 2							129	128	128					8																	105263855		1895	4148	6043	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263855G>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.3911G>A	8.37:g.105263855G>A	ENSP00000390665:p.Arg1304His	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1304H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H	p.R1100H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		22	3535	+			1348					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3299G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.134573	0.77662	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.64	5.64	0.86602	.	.	.	.	.	D	0.88020	0.6325	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.75020	0.984;0.978;0.978;0.985	D	0.90084	0.4172	9	0.87932	D	0	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1304;1125;1100;1286	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	H	1323;1286;1348;1125;1100;1304;222;222	ENSP00000384892:R1286H;ENSP00000262231:R1125H;ENSP00000423559:R1100H;ENSP00000390665:R1304H;ENSP00000428478:R222H;ENSP00000342051:R222H	ENSP00000262231:R1125H	R	+	2	0	RIMS2	105333031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	CGC		0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	530	0	0	0	1	0	6	530					A	105263855	G	A	105263855	3	1	64	1	0	0	0	0	1	0	0	0	13418	1087	38	1	4147	1	RIMS2	8	105263855	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	554365	105263855	41100167	67	7650											
TRAPPC9	83696	broad.mit.edu	37	chr8	141297778	141297778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacagaccagattcagccGgaagagaaagcgccgcaggg	15	10	1	3	rs200583642		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:141297778G>A	ENST00000438773.2	-	13	2043	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P735L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	637					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGATTCAGCCGGAAGAGAAAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17073	0.0		0.001	False		,,,				2504	0.0					ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2203-2205)cCg>cTg		trafficking protein particle complex 9							79	81	81					8																	141297778		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141297778G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1910C>T	8.37:g.141297778G>A	ENSP00000405060:p.Pro637Leu					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P637L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	p.P735L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			13	2218	-			637					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2204C>T	CCDS55278.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.1	4.599316	0.87055	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.85130	0.997;0.996;0.706;0.985	T	0.68074	-0.5505	9	0.26408	T	0.33	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	735;637;628;735	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	L	735;628;637	.	ENSP00000373978:P628L	P	-	2	0	TRAPPC9	141366960	1.000000	0.71417	0.283000	0.24790	0.890000	0.51754	8.748000	0.91615	2.518000	0.84900	0.655000	0.94253	CCG		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		5	361	0	0	0	1	0	5	361					A	141297778	G	A	141297778	3	1	64	1	0	0	0	0	1	0	0	0	16518	1116	39	1	1580	1	TRAPPC9	8	141297778	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	36033923	141297778	5066244	68	7651											
SMC2	10592	broad.mit.edu	37	chr9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaaggggggaactgaaaCgtcgatacactataattcca	10	7	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000374793.3_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C|SMC2_ENST00000303219.8_Missense_Mutation_p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	571	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACTGAAACGTCGATACAC	0.348																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1711-1713)Cgt>Tgt		structural maintenance of chromosomes 2							79	87	84					9																	106878520		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106878520C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1711C>T	9.37:g.106878520C>T	ENSP00000286398:p.Arg571Cys					SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C	p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			14	1999	+			571			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1711C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989673	0.74589	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.97	4.97	0.65823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.111906	0.64402	D	0.000007	D	0.93762	0.8006	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64410	0.925;0.903	D	0.94700	0.7882	10	0.87932	D	0	-4.1672	16.9734	0.86306	0.0:1.0:0.0:0.0	.	571;571	O95347;Q2KQ72	SMC2_HUMAN;.	C	571	ENSP00000286398:R571C;ENSP00000363925:R571C;ENSP00000306152:R571C;ENSP00000363919:R571C	ENSP00000286398:R571C	R	+	1	0	SMC2	105918341	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.886000	0.63149	2.593000	0.87608	0.591000	0.81541	CGT		0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			41	171	0	0	0	1	0	41	171					T	106878520	C	T	106878520	3	4	64	1	0	0	0	0	1	0	0	0	14833	536	19	1	1761	1	SMC2	9	106878520	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		106878520	34334911	69	7652											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22	24	23					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	32	64	0	0	0	1	0	32	64					G	124062285	T	G	124062285	5	3	64	1	0	0	0	0	0	0	1	0	6855	1710	59	4	148	4	GSN	9	124062285	Splice_Site	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	17183765	124062285	17151146	70	7653											
C10orf18	54906	broad.mit.edu	37	chr10	5781711	5781711	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcttcctgaaaactccatCgtcaactatgactcccaggc	6	14	2	2	rs375225511		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:5781711C>T	ENST00000328090.5	+	13	2203	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	526																	AAAACTCCATCGTCAACTATG	0.418																																						ENST00000328090.5																			0											c.(1576-1578)atC>atT		family with sequence similarity 208, member B		C		1,3835		0,1,1917	124	115	118		1578	-3.3	0	10		118	0,8274		0,0,4137	no	coding-synonymous	FAM208B	NM_017782.4		0,1,6054	TT,TC,CC		0.0,0.0261,0.0083		526/2431	5781711	1,12109	1918	4137	6055	SO:0001819	synonymous_variant	54906							g.chr10:5781711C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1578C>T	10.37:g.5781711C>T						RP11-336A10.2_ENST00000411512.2_RNA	p.I526I	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2203	+			526					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.1578C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.800	0.516549	0.12944	2.61E-4	0.0	ENSG00000108021	ENST00000380270	.	.	.	5.59	-3.27	0.05048	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32428	-0.9907	4	.	.	.	.	6.1052	0.20069	0.0:0.3142:0.3456:0.3402	.	.	.	.	C	225	.	.	R	+	1	0	C10orf18	5821717	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	-0.651000	0.05372	-0.493000	0.06678	-0.573000	0.04149	CGT		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		11	497	0	0	0	1	0	11	497					T	5781711	C	T	5781711	2	4	64	1	0	0	0	0	0	0	0	1	1601	874	31	1		1	C10orf18	10	5781711	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		5781711	129753036	71	7654											
ITIH5	80760	broad.mit.edu	37	chr10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaggtagctccagagaCgctcgatgtggttggtgtcc	16	8	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCTCCAGAGACGCTCGATGTG	0.627																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1723-1725)cGt>cAt		inter-alpha-trypsin inhibitor heavy chain family, member 5							47	47	47					10																	7618670		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618670C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1724G>A	10.37:g.7618670C>T	ENSP00000256861:p.Arg575His					ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H	p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1802	-			575					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1724G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.087754	0.76642	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	.	.	.	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83697	0.0180	9	0.87932	D	0	-15.0301	19.1863	0.93645	0.0:1.0:0.0:0.0	.	575;575;361	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	575;575;361;357;575	ENSP00000256861:R575H;ENSP00000380333:R575H;ENSP00000298441:R361H;ENSP00000387969:R357H;ENSP00000380332:R575H	ENSP00000256861:R575H	R	-	2	0	ITIH5	7658676	1.000000	0.71417	0.987000	0.45799	0.196000	0.23810	5.335000	0.65929	2.516000	0.84829	0.462000	0.41574	CGT		0.627	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		46	190	0	0	0	1	0	46	190					T	7618670	C	T	7618670	3	4	64	1	0	0	0	0	1	0	0	0	7937	536	19	1	1247	1	ITIH5	10	7618670	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	1836959	7618670	127916077	72	7655											
PCDH15	65217	broad.mit.edu	37	chr10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttgctgttcttccctgtCcactggttgaagtaaggtga	11	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000320301.6	-	12	1802	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373965.2_Missense_Mutation_p.D477N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTCCCTGTCCACTGGTTGA	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1429-1431)Gac>Aac		protocadherin-related 15							182	153	163					10																	55944926		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944926C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1408G>A	10.37:g.55944926C>T	ENSP00000322604:p.Asp470Asn	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	p.D477N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			13	1823	-		Melanoma(3;0.117)|Lung SC(717;0.238)	470			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1429G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869901	0.91587	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76578	-0.42;-0.04;-0.04;-1.03;-0.42;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85150	0.5631	L	0.51422	1.61	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.89917	0.999;1.0;1.0;0.988;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.907;0.924;0.999	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.97110	0.999;1.0;1.0;0.983;1.0;1.0;0.999;1.0;0.999;1.0;1.0;0.997;0.801;0.649;0.99	D	0.85509	0.1196	9	0.51188	T	0.08	.	17.3285	0.87256	0.0:1.0:0.0:0.0	.	448;470;470;475;470;433;470;470;477;477;470;475;470;448;470	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	477;475;470;470;81;477;470;433;470;448;448;470;470;475;470;470	ENSP00000363076:D477N;ENSP00000410304:D475N;ENSP00000378826:D470N;ENSP00000386693:D81N;ENSP00000378832:D477N;ENSP00000378833:D470N;ENSP00000378820:D433N;ENSP00000354950:D470N;ENSP00000378821:D448N;ENSP00000363068:D448N;ENSP00000322604:D470N;ENSP00000378818:D470N;ENSP00000412628:D470N;ENSP00000363066:D470N	ENSP00000322604:D470N	D	-	1	0	PCDH15	55614932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.465000	0.83290	0.591000	0.81541	GAC		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		52	238	0	0	0	1	0	52	238					T	55944926	C	T	55944926	3	4	64	1	0	0	0	0	1	0	0	0	11553	855	30	2	6166	2	PCDH15	10	55944926	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	48326256	55944926	79589821	73	7656											
DNA2	1763	broad.mit.edu	37	chr10	70179623	70179623	+	Frame_Shift_Del	DEL	T	T	-													gttacattgctcacaccaccTttttcaacttgttctggcgc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:70179623delT	ENST00000358410.3	-	18	2774	c.2724delA	c.(2722-2724)aaafs	p.K908fs	DNA2_ENST00000399179.2_Frame_Shift_Del_p.K670fs|DNA2_ENST00000399180.2_Frame_Shift_Del_p.K994fs	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	908	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCACACCACCTTTTTCAACTT	0.358																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2980-2982)aafs		DNA replication helicase/nuclease 2							125	126	125					10																	70179623		1825	4077	5902	SO:0001589	frameshift_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70179623delT	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2724delA	10.37:g.70179623delT	ENSP00000351185:p.Lys908fs					DNA2_ENST00000358410.3_Frame_Shift_Del_p.K908fs|DNA2_ENST00000399179.2_Frame_Shift_Del_p.K670fs	p.K994fs			P51530	DNA2L_HUMAN			18	2981	-			908					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Del	DEL	ENST00000358410.3	37	c.2982delA																																																																																					0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			7	520						7	520	---	---	---	---	-	70179623	T	-	70179623	7	5	64	1	0	1	0	1	0	0	0	0	4612	1606	56	0	474	0	DNA2	10	70179623	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	14234697	70179623	65355124	74	7657											
UNC5B	219699	broad.mit.edu	37	chr10	73047443	73047443	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcgcacccggacctgcacCaaccccgctccactcaacgg	8	20	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:73047443C>A	ENST00000335350.6	+	6	1238	c.822C>A	c.(820-822)acC>acA	p.T274T	UNC5B_ENST00000373192.4_Silent_p.T274T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	274	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGACCTGCACCAACCCCGCTC	0.662																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(820-822)acC>acA		unc-5 homolog B (C. elegans)							73	70	71					10																	73047443		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047443C>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.822C>A	10.37:g.73047443C>A						UNC5B_ENST00000373192.4_Silent_p.T274T	p.T274T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			6	1238	+			274			TSP type-1 1.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.822C>A	CCDS7309.1																																																																																				0.662	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		6	463	1	0	4.096e-09	1	4.43733e-09	6	463					A	73047443	C	A	73047443	2	1	64	1	0	0	0	0	0	0	0	1	17046	581	21	3		3	UNC5B	10	73047443	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2867820	73047443	62487304	75	7658											
FANK1	92565	broad.mit.edu	37	chr10	127693473	127693473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaatgctggcgtgctatgCgggacacctagatgttgtga	13	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:127693473C>T	ENST00000368693.1	+	7	664	c.560C>T	c.(559-561)gCg>gTg	p.A187V	FANK1_ENST00000368695.1_Missense_Mutation_p.A181V|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	187						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCGTGCTATGCGGGACACCTA	0.512																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(541-543)gCg>gTg		fibronectin type III and ankyrin repeat domains 1							153	143	146					10																	127693473		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693473C>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.560C>T	10.37:g.127693473C>T	ENSP00000357682:p.Ala187Val					FANK1_ENST00000368693.1_Missense_Mutation_p.A187V|FANK1_ENST00000477963.1_3'UTR	p.A181V	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	664	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	187					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.542C>T	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.941340|2.941340	0.53079|0.53079	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.66638|.	-0.22;-0.22;0.63|.	5.79|5.79	2.86|2.86	0.33363|0.33363	Ankyrin repeat-containing domain (4);|.	0.159505|.	0.42294|.	D|.	0.000728|.	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.39147|0.39147	1.195|1.195	0.21184|0.21184	N|N	0.999761|0.999761	D;D;D|.	0.61697|.	0.99;0.977;0.963|.	P;P;P|.	0.49597|.	0.616;0.536;0.548|.	T|T	0.20505|0.20505	-1.0273|-1.0273	10|5	0.12430|.	T|.	0.62|.	-24.42|-24.42	11.0179|11.0179	0.47701|0.47701	0.2611:0.6132:0.1257:0.0|0.2611:0.6132:0.1257:0.0	.|.	213;187;187|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	V|W	181;187;165;213|82	ENSP00000357684:A181V;ENSP00000357682:A187V;ENSP00000357680:A165V|.	ENSP00000357680:A165V|.	A|R	+|+	2|1	0|2	FANK1|FANK1	127683463|127683463	0.783000|0.783000	0.28701|0.28701	0.176000|0.176000	0.23000|0.23000	0.753000|0.753000	0.42808|0.42808	1.267000|1.267000	0.33050|0.33050	0.332000|0.332000	0.23536|0.23536	-0.152000|-0.152000	0.13540|0.13540	GCG|CGG		0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	539	0	0	0	1	0	6	539					T	127693473	C	T	127693473	3	4	64	1	0	0	0	0	1	0	0	0	5697	768	27	1	586	1	FANK1	10	127693473	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	54646030	127693473	7841274	76	7659											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930823	133930823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgccctgcgtgatggCggccccgaaaaggtcaagac	13	13	2	2	rs368486466		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:133930823C>T	ENST00000298622.4	+	2	516	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	126						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(376-378)ggC>ggT		Janus kinase and microtubule interacting protein 3		C		1,4317		0,1,2158	68	84	78		378	-1.9	0	10		78	0,8496		0,0,4248	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6406	TT,TC,CC		0.0,0.0232,0.0078		126/845	133930823	1,12813	2159	4248	6407	SO:0001819	synonymous_variant	282973							g.chr10:133930823C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.378C>T	10.37:g.133930823C>T							p.G126G	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	516	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.378C>T	CCDS44494.1																																																																																				0.617	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		5	390	0	0	0	1	0	5	390					T	133930823	C	T	133930823	2	4	64	1	0	0	0	0	0	0	0	1	7972	755	27	1		1	JAKMIP3	10	133930823	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	6237350	133930823	1603924	77	7660											
P4HA3	283208	broad.mit.edu	37	chr11	74013557	74013557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtacacgtcctgcagccGcatcagggcccttgctgctc	10	16	1	0	rs576514835		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:74013557G>A	ENST00000331597.4	-	3	469	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	142						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCCTGCAGCCGCATCAGGGCC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19246	0.001		0.0	False		,,,				2504	0.0					ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(424-426)Cgg>Tgg		prolyl 4-hydroxylase, alpha polypeptide III							111	109	110					11																	74013557		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74013557G>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.424C>T	11.37:g.74013557G>A	ENSP00000332170:p.Arg142Trp					P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			3	469	-	Breast(11;2.31e-05)		142					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.424C>T	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799253	0.70567	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.69926	-0.26;-0.44	4.96	3.02	0.34903	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.87547	2.89	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.83460	0.0053	10	0.87932	D	0	-23.6292	11.0144	0.47681	0.0:0.0:0.5057:0.4943	.	142;142	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	W	142	ENSP00000332170:R142W;ENSP00000401749:R142W	ENSP00000332170:R142W	R	-	1	2	P4HA3	73691205	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.407000	0.21049	0.746000	0.32786	0.563000	0.77884	CGG		0.537	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		7	598	0	0	0	1	0	7	598					A	74013557	G	A	74013557	3	1	64	1	0	0	0	0	1	0	0	0	11400	1086	38	1	1254	1	P4HA3	11	74013557	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		74013557	60992959	78	7661											
NARS2	79731	broad.mit.edu	37	chr11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcttgctttaagaTctccactgcttcagtataag	9	9	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000281038.5	-	10	1360	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGCTTTAAGATCTCCACTGCT	0.378																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(985-987)Atc>Ctc		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						120	112	115					11																	78180334		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78180334T>G	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.985A>C	11.37:g.78180334T>G	ENSP00000281038:p.Ile329Leu					NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	p.I329L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			10	1360	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		329					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.985A>C	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747435	0.49257	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	T;T	0.79033	-1.23;-1.23	5.49	5.49	0.81192	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.094278	0.64402	D	0.000001	T	0.64864	0.2637	N	0.21373	0.66	0.58432	D	0.999997	B	0.29378	0.243	B	0.32724	0.151	T	0.62562	-0.6828	10	0.32370	T	0.25	-16.1391	9.6183	0.39706	0.0:0.0804:0.0:0.9196	.	329	Q96I59	SYNM_HUMAN	L	329;102	ENSP00000281038:I329L;ENSP00000432635:I102L	ENSP00000281038:I329L	I	-	1	0	NARS2	77857982	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.419000	0.52728	2.304000	0.77564	0.528000	0.53228	ATC		0.378	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		41	207	0	0	0	1	0	41	207					G	78180334	T	G	78180334	3	3	64	1	0	0	0	0	1	0	0	0	10212	1435	50	4	468	4	NARS2	11	78180334	Missense_Mutation	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	4166777	78180334	56826182	79	7662											
MMP7	4316	broad.mit.edu	37	chr11	102395738	102395738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagacctgtcccaggcGcaaaggcatgagccagcgtg	13	14	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:102395738G>A	ENST00000260227.4	-	4	594	c.542C>T	c.(541-543)gCg>gTg	p.A181V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	181					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	TGTCCCAGGCGCAAAGGCATG	0.493																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(541-543)gCg>gTg		matrix metallopeptidase 7 (matrilysin, uterine)							102	85	91					11																	102395738		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395738G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.542C>T	11.37:g.102395738G>A	ENSP00000260227:p.Ala181Val						p.A181V	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	4	594	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	181					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.542C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122355	0.56613	.	.	ENSG00000137673	ENST00000260227	T	0.47528	0.84	5.12	-1.84	0.07809	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.307950	0.05276	N	0.518503	T	0.49881	0.1583	M	0.85041	2.73	0.09310	N	1	D;D	0.59767	0.986;0.97	B;B	0.43123	0.409;0.409	T	0.50890	-0.8774	10	0.54805	T	0.06	-4.058	4.1887	0.10411	0.1263:0.0955:0.2569:0.5214	.	181;181	Q53GF1;P09237	.;MMP7_HUMAN	V	181	ENSP00000260227:A181V	ENSP00000260227:A181V	A	-	2	0	MMP7	101900948	0.000000	0.05858	0.019000	0.16419	0.621000	0.37620	-0.240000	0.08952	-0.299000	0.08909	-0.182000	0.12963	GCG		0.493	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			5	276	0	0	0	1	0	5	276					A	102395738	G	A	102395738	3	1	64	1	0	0	0	0	1	0	0	0	9708	1087	38	1	273	1	MMP7	11	102395738	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	24215404	102395738	32610778	80	7663											
IFFO1	25900	broad.mit.edu	37	chr12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcacgtccaggccgCgcttcatgctgcacatctcc	8	18	3	0	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000396840.2	-	8	1558	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R203H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(607-609)cGc>cAc		intermediate filament family orphan 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	94	99		1529,1553,1526	5	1	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	510/564,518/572,509/563	6650735	2,13004	2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6650735C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1517G>A	12.37:g.6650735C>T	ENSP00000380052:p.Arg506His					IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H	p.R203H			Q0D2I5	IFFO1_HUMAN			10	1167	-			506					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.608G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.369195|5.369195	0.95900|0.95900	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|T;T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55;2.55	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.38108|0.38108	0.1028|0.1028	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.997;0.999;0.997;0.997;0.997;0.996	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.66056	.|D	.|0.02	-16.3948|-16.3948	18.3492|18.3492	0.90331|0.90331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|509;202;509;506;510;211	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	T|H	240|203;202;509;506;510;146	.|ENSP00000390721:R203H;ENSP00000436261:R202H;ENSP00000337593:R509H;ENSP00000380052:R506H;ENSP00000349364:R510H	.|ENSP00000337593:R509H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6520996|6520996	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.931000|0.931000	0.56810|0.56810	7.788000|7.788000	0.85771|0.85771	2.311000|2.311000	0.77944|0.77944	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.662	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		72	395	0	0	0	1	0	72	395					T	6650735	C	T	6650735	3	4	64	1	0	0	0	0	1	0	0	0	7540	768	27	1	170	1	IFFO1	12	6650735	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		6650735	127201160	81	7664											
CD163L1	283316	broad.mit.edu	37	chr12	7527078	7527078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccttgtgcctgcagtcGtgctgcccccagccgcggga	12	17	0	0	rs369447691		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:7527078G>A	ENST00000313599.3	-	13	3426	c.3369C>T	c.(3367-3369)caC>caT	p.H1123H	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1123	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCAGTCGTGCTGCCCCC	0.607																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3367-3369)caC>caT		CD163 molecule-like 1		G		0,4406		0,0,2203	78	69	72		3369	-3.8	0	12		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD163L1	NM_174941.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1123/1454	7527078	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527078G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3369C>T	12.37:g.7527078G>A						CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H	p.H1123H			Q9NR16	C163B_HUMAN			13	3426	-			1123			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3369C>T	CCDS8577.1																																																																																				0.607	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	332	0	0	0	1	0	6	332					A	7527078	G	A	7527078	2	1	64	1	0	0	0	0	0	0	0	1	2977	1136	40	1		1	CD163L1	12	7527078	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	876343	7527078	126324817	82	7665											
PDE3A	5139	broad.mit.edu	37	chr12	20766557	20766557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcccagagtgaatcccGtcacttcgctcagtgaaaac	8	13	2	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:20766557G>A	ENST00000359062.3	+	3	1232	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	398					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)			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)	AGTGAATCCCGTCACTTCGCT	0.483																																						ENST00000359062.3																			0				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						c.(1192-1194)Gtc>Atc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						93	91	92					12																	20766557		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.chr12:20766557G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1192G>A	12.37:g.20766557G>A	ENSP00000351957:p.Val398Ile					PDE3A_ENST00000544307.1_3'UTR	p.V398I	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1232	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	398					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1192G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335619	0.24253	.	.	ENSG00000172572	ENST00000359062	T	0.60672	0.17	5.87	-2.0	0.07433	.	32.968800	0.00166	N	0.000000	T	0.35970	0.0950	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12630	-1.0540	10	0.41790	T	0.15	.	0.8684	0.01209	0.3374:0.1811:0.3009:0.1806	.	398	Q14432	PDE3A_HUMAN	I	398	ENSP00000351957:V398I	ENSP00000351957:V398I	V	+	1	0	PDE3A	20657824	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.153000	0.10144	-0.240000	0.09696	-0.182000	0.12963	GTC		0.483	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	321	0	0	0	1	0	6	321					A	20766557	G	A	20766557	3	1	64	1	0	0	0	0	1	0	0	0	11679	1145	40	1	1202	1	PDE3A	12	20766557	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	13239479	20766557	113085338	83	7666											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	94	1	0	1.5739e-10	1	1.71458e-10	14	94					A	25398284	C	A	25398284	3	1	64	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	4631727	25398284	108453611	84	7667											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000544797.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		4	131	0	0	0	1	0	4	131					T	39735383	C	T	39735383	2	4	64	1	0	0	0	0	0	0	0	1	8318	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	14337099	39735383	94116512	85	7668											
TROAP	10024	broad.mit.edu	37	chr12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgttgcggcgtctcaCcgttcaacctaaaacccggt	9	13	3	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000257909.3	+	10	1125	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000551245.1_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				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						CGGCGTCTCACCGTTCAACCT	0.552																																						ENST00000551245.1																			0				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						c.(1048-1050)aCc>aTc		trophinin associated protein							217	208	211					12																	49722972		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49722972C>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.1049C>T	12.37:g.49722972C>T	ENSP00000257909:p.Thr350Ile					TROAP_ENST00000257909.3_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I	p.T350I			Q12815	TROAP_HUMAN			10	1160	+			350					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1049C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302681	0.40795	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.33	5.33	0.75918	.	0.344021	0.24647	N	0.036744	T	0.34919	0.0914	L	0.29908	0.895	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.38616	0.277;0.277;0.215	T	0.28554	-1.0040	9	0.38643	T	0.18	-3.668	14.505	0.67746	0.0:1.0:0.0:0.0	.	350;58;350	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	350;350;58	.	ENSP00000257909:T350I	T	+	2	0	TROAP	48009239	0.006000	0.16342	0.017000	0.16124	0.005000	0.04900	2.161000	0.42358	2.497000	0.84241	0.462000	0.41574	ACC		0.552	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		8	833	0	0	0	1	0	8	833					T	49722972	C	T	49722972	3	4	64	1	0	0	0	0	1	0	0	0	16628	507	18	2	1185	2	TROAP	12	49722972	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	9987589	49722972	84128923	86	7669											
GPR84	53831	broad.mit.edu	37	chr12	54756514	54756514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcttggcggaattggcgGttcatggctgcatagagcac	14	8	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:54756514G>A	ENST00000551809.1	-	1	1757	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGAATTGGCGGTTCATGGCTG	0.542																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1120-1122)aaC>aaT		G protein-coupled receptor 84							153	173	167					12																	54756514		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756514G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1122C>T	12.37:g.54756514G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N	p.N374N			Q9NQS5	GPR84_HUMAN			1	1757	-			374					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.1122C>T	CCDS8878.1																																																																																				0.542	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	878	0	0	0	1	0	7	878					A	54756514	G	A	54756514	2	1	64	1	0	0	0	0	0	0	0	1	6743	1252	44	2		2	GPR84	12	54756514	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5033542	54756514	79095381	87	7670											
NACA	4666	broad.mit.edu	37	chr12	57111542	57111542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcccctttggggggtgGggtagctgggcctccttttg	20	9	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:57111542G>A	ENST00000454682.1	-	3	4053	c.3772C>T	c.(3772-3774)Cca>Tca	p.P1258S	NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1258	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGGGGGGTGGGGTAGCTGGG	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3772-3774)Cca>Tca		nascent polypeptide-associated complex alpha subunit							43	63	57					12																	57111542		1214	2834	4048	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111542G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3772C>T	12.37:g.57111542G>A	ENSP00000403817:p.Pro1258Ser					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	p.P1258S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4053	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3772C>T		.	.	.	.	.	.	.	.	.	.	G	6.928	0.540853	0.13250	.	.	ENSG00000196531	ENST00000454682	T	0.55930	0.49	4.25	-2.16	0.07080	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.20955	0.032	T	0.15636	-1.0430	7	.	.	.	.	2.1941	0.03906	0.1317:0.3448:0.2917:0.2319	.	1258	E9PAV3	.	S	1258	ENSP00000403817:P1258S	.	P	-	1	0	NACA	55397809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.673000	0.05239	-0.084000	0.12595	0.298000	0.19748	CCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	713	0	0	0	1	0	8	713					A	57111542	G	A	57111542	3	1	64	1	0	0	0	0	1	0	0	0	10174	1232	43	2	2492	2	NACA	12	57111542	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	2355028	57111542	76740353	88	7671											
APPL2	55198	broad.mit.edu	37	chr12	105568136	105568136	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgttcgtttggatttccatCatcgtcatctggttgatcgt	9	8	3	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:105568136C>A	ENST00000258530.3	-	21	2176	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y|APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGATTTCCATCATCGTCATCT	0.463																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1951-1953)Gat>Tat		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							236	191	207					12																	105568136		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105568136C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1951G>T	12.37:g.105568136C>A	ENSP00000258530:p.Asp651Tyr					APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y	p.D651Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			21	2176	-			651					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1951G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165391	0.57476	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000546731;ENST00000551662;ENST00000553109	T;T;T	0.25749	2.59;1.78;2.36	5.93	5.04	0.67666	.	0.285633	0.39687	N	0.001298	T	0.21921	0.0528	N	0.24115	0.695	0.20307	N	0.999918	P;P	0.47253	0.892;0.828	B;B	0.43251	0.413;0.235	T	0.07558	-1.0766	10	0.72032	D	0.01	-12.4508	14.8676	0.70427	0.0:0.9316:0.0:0.0684	.	657;651	F8W1P5;Q8NEU8	.;DP13B_HUMAN	Y	651;608;94;657;182	ENSP00000258530:D651Y;ENSP00000444472:D608Y;ENSP00000446917:D657Y	ENSP00000258530:D651Y	D	-	1	0	APPL2	104092266	0.927000	0.31430	0.210000	0.23637	0.623000	0.37688	2.454000	0.44979	1.521000	0.48983	0.655000	0.94253	GAT		0.463	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		4	206	1	0	0.150653	1	0.15143	4	206					A	105568136	C	A	105568136	3	1	64	1	0	0	0	0	1	0	0	0	818	826	29	3	47	3	APPL2	12	105568136	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	48456594	105568136	28283759	89	7672											
USP30	84749	broad.mit.edu	37	chr12	109520716	109520716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcacgcctctgaagcgGcatgagcacgtgcagttcaa	12	13	2	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:109520716G>A	ENST00000257548.5	+	11	1110	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	USP30_ENST00000392784.2_Silent_p.R308R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	339	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R330R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTCTGAAGCGGCATGAGCACG	0.532																																						ENST00000257548.5																			1	Substitution - coding silent(1)	p.R330R(1)	lung(1)	endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1015-1017)cgG>cgA		ubiquitin specific peptidase 30							80	64	69					12																	109520716		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520716G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1017G>A	12.37:g.109520716G>A						USP30_ENST00000392784.2_Silent_p.R308R	p.R339R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			11	1110	+			339					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1017G>A	CCDS9123.2																																																																																				0.532	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		5	227	0	0	0	1	0	5	227					A	109520716	G	A	109520716	2	1	64	1	0	0	0	0	0	0	0	1	17115	1190	42	2		2	USP30	12	109520716	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3952580	109520716	24331179	90	7673											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-													cctccgtgtcgccctcgctgTcctcctcctcctcctctggc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		9	363						9	363	---	---	---	---	-	111758237	TCC	-	111758235	7	5	64	1	0	1	0	1	0	0	0	0	4076	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-H8-A6C1-01A-11D-A32N-08	2237519	111758235	22093660	91	7674											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	309	0	0	0	1	0	6	309					A	132547141	G	A	132547141	2	1	64	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	20788906	132547141	1304754	92	7675											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		9	285						9	285	---	---	---	---	-	20426145	CAT	-	20426143	7	5	64	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-H8-A6C1-01A-11D-A32N-08		20426143	94743735	93	7676											
HMGB1	3146	broad.mit.edu	37	chr13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttattcatcatcatcatcTtcttcttcatcttcatcttc	0	13	11	0	rs200836895	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0.0	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(628-630)gaA>gaT		high mobility group box 1							20	25	23					13																	31035512		1894	4135	6029	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035512T>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp					HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR	p.E210D			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1570	-		Lung SC(185;0.0257)	210			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.630A>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA		0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		5	146	0	0	0	1	0	5	146					A	31035512	T	A	31035512	3	1	64	1	0	0	0	0	1	0	0	0	7255	1606	56	5	21	5	HMGB1	13	31035512	Missense_Mutation	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	10609369	31035512	84134366	94	7677											
SPTB	6710	broad.mit.edu	37	chr14	65233466	65233466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgttctctcggtggccGcatggtgggaaactggagcc	17	10	1	0	rs369676353		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:65233466G>A	ENST00000389721.5	-	31	6355	c.6323C>T	c.(6322-6324)gCg>gTg	p.A2108V	SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389722.3_Missense_Mutation_p.A2108V|SPTB_ENST00000342835.4_5'Flank|SPTB_ENST00000389720.3_Silent_p.C2091C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2108					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCGGTGGCCGCATGGTGGGA	0.592																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6322-6324)gCg>gTg		spectrin, beta, erythrocytic		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	179	169	172		6323,6323	3.9	0	14		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2108/2138,2108/2329	65233466	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65233466G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6323C>T	14.37:g.65233466G>A	ENSP00000374371:p.Ala2108Val					SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C	p.A2108V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	31	6376	-		all_lung(585;4.15e-09)	2108					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6323C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360638	0.11296	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895	T;T;T;T;T	0.71934	-0.53;0.24;-0.53;-0.61;-0.61	4.78	3.88	0.44766	.	2.046820	0.01913	N	0.039967	T	0.52917	0.1764	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.40572	-0.9556	10	0.23891	T	0.37	.	8.2183	0.31526	0.1055:0.0:0.8945:0.0	.	892;2108;2112	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	2112;2108;892;773;2108;2108;2108	ENSP00000374372:A2108V;ENSP00000451324:A773V;ENSP00000451752:A2108V;ENSP00000374371:A2108V;ENSP00000443882:A2108V	ENSP00000334218:A892V	A	-	2	0	SPTB	64303219	0.172000	0.23043	0.019000	0.16419	0.017000	0.09413	3.604000	0.54081	2.648000	0.89879	0.462000	0.41574	GCG		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	892	0	0	0	1	0	6	892					A	65233466	G	A	65233466	3	1	64	1	0	0	0	0	1	0	0	0	15170	1087	38	1	752	1	SPTB	14	65233466	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		65233466	42116074	95	7678											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		7	306						7	306	---	---	---	---	-	40328599	TGC	-	40328597	7	5	64	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-H8-A6C1-01A-11D-A32N-08		40328597	62202795	96	7679											
MGA	23269	broad.mit.edu	37	chr15	41961798	41961798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagactgaattctttgcaGtaacagcttatcagaacatt	6	9	2	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:41961798G>A	ENST00000570161.1	+	1	706	c.706G>A	c.(706-708)Gta>Ata	p.V236I	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000545763.1_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000219905.7_Missense_Mutation_p.V236I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTTTGCAGTAACAGCTTA	0.438																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(706-708)Gta>Ata		MGA, MAX dimerization protein							75	71	72					15																	41961798		1883	4119	6002	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961798G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.706G>A	15.37:g.41961798G>A	ENSP00000457035:p.Val236Ile					MGA_ENST00000545763.1_Missense_Mutation_p.V236I|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000570161.1_Missense_Mutation_p.V236I|MGA_ENST00000568630.1_Intron	p.V236I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	887	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	236					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.706G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827704	0.90955	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.94417	-3.42;-3.42;-3.42	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	H	0.95365	3.66	0.58432	D	0.999999	D;D	0.69078	0.993;0.997	D;D	0.79784	0.987;0.993	D	0.98730	1.0712	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	236;236	F5H7K2;E7ENI0	.;.	I	236	ENSP00000219905:V236I;ENSP00000374586:V236I;ENSP00000442467:V236I	ENSP00000219905:V236I	V	+	1	0	MGA	39749090	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GTA		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		4	154	0	0	0	1	0	4	154					A	41961798	G	A	41961798	3	1	64	1	0	0	0	0	1	0	0	0	9581	1029	36	2	708	2	MGA	15	41961798	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1633201	41961798	60569594	97	7680											
AQP9	366	broad.mit.edu	37	chr15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaatgtgtctctttggaCggatgaaatggttcaaattg	11	5	2	1	rs200266534		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000219919.4	+	3	656	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCTCTTTGGACGGATGAAATG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20633	0.0		0.0	False		,,,				2504	0.001					ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(286-288)Cgg>Tgg		aquaporin 9							213	205	207					15																	58465314		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465314C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.286C>T	15.37:g.58465314C>T	ENSP00000219919:p.Arg96Trp					AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	656	+			96					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.286C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707646	0.68615	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.86030	-2.06;-2.06	5.46	2.41	0.29592	Aquaporin-like (2);	0.070870	0.56097	D	0.000024	D	0.94712	0.8294	H	0.96996	3.92	0.48901	D	0.99972	D	0.89917	1.0	D	0.91635	0.999	D	0.95693	0.8742	10	0.87932	D	0	.	15.3605	0.74469	0.7595:0.2405:0.0:0.0	.	96	O43315	AQP9_HUMAN	W	96	ENSP00000219919:R96W;ENSP00000441390:R96W	ENSP00000219919:R96W	R	+	1	2	AQP9	56252606	0.997000	0.39634	0.998000	0.56505	0.902000	0.53008	2.277000	0.43417	0.337000	0.23665	-0.182000	0.12963	CGG		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		14	805	0	0	0	1	0	14	805					T	58465314	C	T	58465314	3	4	64	1	0	0	0	0	1	0	0	0	833	527	19	1	296	1	AQP9	15	58465314	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	16503516	58465314	44066078	98	7681											
ISLR	3671	broad.mit.edu	37	chr15	74467397	74467397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggctgccaggcttgccGgagggtgccttcagggaggt	17	11	1	0	rs200581049		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ISLR_ENST00000395118.1_Silent_p.P66P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(196-198)ccG>ccA		immunoglobulin superfamily containing leucine-rich repeat		G	,	0,4396		0,0,2198	42	41	41		198,198	-8	0	15	dbSNP_134	41	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ISLR	NM_005545.3,NM_201526.1	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	66/429,66/429	74467397	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467397G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.198G>A	15.37:g.74467397G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P66P	p.P66P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	555	+			66						Silent	SNP	ENST00000249842.3	37	c.198G>A	CCDS10260.1																																																																																				0.667	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		6	401	0	0	0	1	0	6	401					A	74467397	G	A	74467397	2	1	64	1	0	0	0	0	0	0	0	1	7888	1103	39	1		1	ISLR	15	74467397	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	16002083	74467397	28063995	99	7682											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgggaaccagggaacCgggtaaagctaacacatcta	11	9	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGGAACCGGGTAAAGCT	0.478																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4654-4656)Cgg>Tgg		ADAMTS-like 3							69	68	68					15																	84694186		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84694186C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4654C>T	15.37:g.84694186C>T	ENSP00000286744:p.Arg1552Trp					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		27	4878	+			1552					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4654C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055902	0.36277	.	.	ENSG00000156218	ENST00000286744	T	0.64085	-0.08	5.0	5.0	0.66597	.	0.922843	0.08979	N	0.866129	T	0.62804	0.2458	L	0.46819	1.47	0.80722	D	1	P;B	0.48764	0.915;0.206	P;B	0.45138	0.471;0.006	T	0.62431	-0.6856	10	0.66056	D	0.02	.	13.6677	0.62405	0.0:1.0:0.0:0.0	.	1552;1552	P82987-2;P82987	.;ATL3_HUMAN	W	1552	ENSP00000286744:R1552W	ENSP00000286744:R1552W	R	+	1	2	ADAMTSL3	82485190	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	4.108000	0.57817	2.580000	0.87095	0.655000	0.94253	CGG		0.478	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		26	75	0	0	0	1	0	26	75					T	84694186	C	T	84694186	3	4	64	1	0	0	0	0	1	0	0	0	276	643	23	1	4756	1	ADAMTSL3	15	84694186	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	10226789	84694186	17837206	100	7683											
CACNA1H	8912	broad.mit.edu	37	chr16	1259139	1259139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagcctcaagcgccgCggccagtgtggggaacgtga	15	15	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:1259139C>T	ENST00000348261.5	+	17	3719	c.3471C>T	c.(3469-3471)cgC>cgT	p.R1157R	CACNA1H_ENST00000565831.1_Silent_p.R1157R|CACNA1H_ENST00000358590.4_Silent_p.R1157R|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1157					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCAAGCGCCGCGGCCAGTGTG	0.741																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3469-3471)cgC>cgT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						4	5	5					16																	1259139		1796	3827	5623	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259139C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3471C>T	16.37:g.1259139C>T						CACNA1H_ENST00000358590.4_Silent_p.R1157R|CACNA1H_ENST00000565831.1_Silent_p.R1157R	p.R1157R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			17	3719	+		Hepatocellular(780;0.00369)	1157					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.3471C>T	CCDS45375.1																																																																																				0.741	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	29	0	0	0	1	0	4	29					T	1259139	C	T	1259139	2	4	64	1	0	0	0	0	0	0	0	1	2552	755	27	1		1	CACNA1H	16	1259139	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		1259139	89095614	101	7684											
NMRAL1	57407	broad.mit.edu	37	chr16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaatagcagggcagccGcacactggtcatgggaacgc	12	12	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(451-453)Cgg>Tgg		NmrA-like family domain containing 1							95	89	91					16																	4516232		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516232G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp					NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR	p.R151W			Q9HBL8	NMRL1_HUMAN			4	1180	-			151						Missense_Mutation	SNP	ENST00000574733.1	37	c.451C>T	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG		0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		5	299	0	0	0	1	0	5	299					A	4516232	G	A	4516232	3	1	64	1	0	0	0	0	1	0	0	0	10543	1086	38	1	460	1	NMRAL1	16	4516232	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3257093	4516232	85838521	102	7685											
A2BP1	54715	broad.mit.edu	37	chr16	7568354	7568354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactccgagcagagcccggCggacacgagcgctcagaccg	14	16	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:7568354C>T	ENST00000550418.1	+	5	1221	c.233C>T	c.(232-234)gCg>gTg	p.A78V	RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A83V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	78					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGAGCCCGGCGGACACGAGC	0.652																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(247-249)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							91	89	90					16																	7568354		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568354C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.233C>T	16.37:g.7568354C>T	ENSP00000450031:p.Ala78Val					RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V	p.A83V			Q9NWB1	RFOX1_HUMAN			2	545	+			78					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.248C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439434	0.43326	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.91;1.36;1.66;1.62;1.64;1.74;1.36;1.46;1.64;1.64;1.35	4.28	4.28	0.50868	.	0.373739	0.27927	N	0.017282	T	0.18045	0.0433	N	0.08118	0	0.39474	D	0.967774	B;P;P;P;B;P;B;B;P	0.49185	0.201;0.733;0.778;0.628;0.278;0.92;0.081;0.081;0.879	B;B;B;B;B;B;B;B;B	0.36666	0.057;0.09;0.085;0.115;0.065;0.169;0.065;0.029;0.23	T	0.11665	-1.0578	10	0.48119	T	0.1	-0.0284	13.3828	0.60778	0.0:0.841:0.159:0.0	.	98;114;121;98;98;98;78;78;121	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	78;78;78;121;121;114;114;78;78;98;98;98;98;83	ENSP00000450402:A78V;ENSP00000450031:A78V;ENSP00000447753:A78V;ENSP00000446842:A121V;ENSP00000391269:A121V;ENSP00000447281:A78V;ENSP00000447717:A78V;ENSP00000402745:A98V;ENSP00000309117:A98V;ENSP00000347855:A98V;ENSP00000344196:A83V	ENSP00000309117:A98V	A	+	2	0	RBFOX1	7508355	0.942000	0.31987	0.927000	0.36925	0.680000	0.39746	3.805000	0.55575	1.915000	0.55452	0.557000	0.71058	GCG		0.652	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		165	612	0	0	0	1	0	165	612					T	7568354	C	T	7568354	3	4	64	1	0	0	0	0	1	0	0	0	3	768	27	1	330	1	A2BP1	16	7568354	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	3052122	7568354	82786399	103	7686											
TMC7	79905	broad.mit.edu	37	chr16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-													ccatctgctggatcggagccTttttctcaccccttctccct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:19058506delT	ENST00000304381.5	+	12	1805	c.1675delT	c.(1675-1677)tttfs	p.F560fs	TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000421369.3_Frame_Shift_Del_p.F450fs	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1345-1347)ttfs		transmembrane channel-like 7							294	304	300					16																	19058506		2197	4300	6497	SO:0001589	frameshift_variant	79905					integral to membrane		g.chr16:19058506delT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1675delT	16.37:g.19058506delT	ENSP00000304710:p.Phe560fs					TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs	p.F450fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1903	+			560					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Frame_Shift_Del	DEL	ENST00000304381.5	37	c.1345delT	CCDS10573.1																																																																																				0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		9	1688						9	1688	---	---	---	---	-	19058506	T	-	19058506	7	5	64	1	0	1	0	1	0	0	0	0	16042	1609	56	0	1721	0	TMC7	16	19058506	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	11490152	19058506	71296247	104	7687											
SULT1A2	6799	broad.mit.edu	37	chr16	28603714	28603714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccacagtctcctctggCagggagcgccccacaaactc	10	16	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:28603714C>T	ENST00000395630.1	-	7	995	c.645G>A	c.(643-645)ctG>ctA	p.L215L	SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000533150.1_Silent_p.L182L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	215					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTCTGGCAGGGAGCGCC	0.547																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(544-546)ctG>ctA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141	126	131					16																	28603714		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603714C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.645G>A	16.37:g.28603714C>T						SULT1A2_ENST00000395630.1_Silent_p.L215L|SULT1A2_ENST00000335715.4_Silent_p.L215L	p.L182L			P50226	ST1A2_HUMAN			3	1662	-			215					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.546G>A	CCDS10636.1																																																																																				0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		7	483	0	0	0	1	0	7	483					T	28603714	C	T	28603714	2	4	64	1	0	0	0	0	0	0	0	1	15425	697	25	2		2	SULT1A2	16	28603714	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	9545208	28603714	61751039	105	7688											
HAS3	3038	broad.mit.edu	37	chr16	69148379	69148379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccttgggcatgtaccGcaacagcctcctccagcagt	11	15	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69148379G>A	ENST00000306560.1	+	4	1028	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HAS3_ENST00000569188.1_Missense_Mutation_p.R291H|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	291					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCATGTACCGCAACAGCCTC	0.597																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(871-873)cGc>cAc		hyaluronan synthase 3							106	94	98					16																	69148379		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148379G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.872G>A	16.37:g.69148379G>A	ENSP00000304440:p.Arg291His					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R291H	p.R291H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1028	+		Ovarian(137;0.101)	291					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.872G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780423	0.90195	.	.	ENSG00000103044	ENST00000306560	T	0.68765	-0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90677	0.4602	10	0.87932	D	0	-7.9931	19.1646	0.93551	0.0:0.0:1.0:0.0	.	291	O00219	HAS3_HUMAN	H	291	ENSP00000304440:R291H	ENSP00000304440:R291H	R	+	2	0	HAS3	67705880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	CGC		0.597	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		5	406	0	0	0	1	0	5	406					A	69148379	G	A	69148379	3	1	64	1	0	0	0	0	1	0	0	0	6993	1087	38	1	882	1	HAS3	16	69148379	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	40544665	69148379	21206374	106	7689											
NQO1	1728	broad.mit.edu	37	chr16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatatcacaaggtctgCggcttccagcttcttttgtt	9	10	3	0	rs541026990	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174	182	180					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			7	1045	0	0	0	1	0	7	1045					T	69752046	C	T	69752046	3	4	64	1	0	0	0	0	1	0	0	0	10653	768	27	1	557	1	NQO1	16	69752046	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	603667	69752046	20602707	107	7690											
USP10	9100	broad.mit.edu	37	chr16	84793046	84793046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtattccaaagtgcaaagGccttgtacgtcaacacccat	7	12	1	0	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGTGCAAAGGCCTTGTACGT	0.448																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1360-1362)agG>agA		ubiquitin specific peptidase 10							126	110	115					16																	84793046		1974	4152	6126	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84793046G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1362G>A	16.37:g.84793046G>A						USP10_ENST00000570191.1_Silent_p.R458R	p.R454R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			6	1475	+			454					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1362G>A	CCDS45537.1																																																																																				0.448	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			8	261	0	0	0	1	0	8	261					A	84793046	G	A	84793046	2	1	64	1	0	0	0	0	0	0	0	1	17095	1194	42	2		2	USP10	16	84793046	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	15041000	84793046	5561707	108	7691											
TP53	7157	broad.mit.edu	37	chr17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-													ttaccagaacgttgttttcaGgaagtctgaaagacaagagc					rs397516438		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)	GTTGTTTTCAGGAAGTCTGAA	0.617		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)	ENST00000420246.2		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"		15	Whole gene deletion(8)|Deletion - Frameshift(7)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(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						c.(79-81)ctfs	Other conserved DNA damage response genes	tumor protein p53							42	42	42					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579716delG	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.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs	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_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs	p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	212	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	27			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.80delC	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	226						50	226	---	---	---	---	-	7579716	G	-	7579716	7	5	64	1	0	1	0	1	0	0	0	0	16434	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-H8-A6C1-01A-11D-A32N-08		7579716	73615494	109	7692											
CSF3	1440	broad.mit.edu	37	chr17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-													gagccaactccatagcggccTtttcctctaccaggggctcc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:38172769delT	ENST00000225474.2	+	4	375	c.344delT	c.(343-345)cttfs	p.L115fs	CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.L108fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CATAGCGGCCTTTTCCTCTAC	0.627																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(322-324)ctfs		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						97	107	104					17																	38172769		2203	4300	6503	SO:0001589	frameshift_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172769delT		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.344delT	17.37:g.38172769delT	ENSP00000225474:p.Leu115fs					CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs	p.L108fs			P09919	CSF3_HUMAN			3	539	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	115					A8MXR7	Frame_Shift_Del	DEL	ENST00000225474.2	37	c.323delT	CCDS11357.1																																																																																				0.627	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		8	1059						8	1059	---	---	---	---	-	38172769	T	-	38172769	7	5	64	1	0	1	0	1	0	0	0	0	3947	1609	56	0	358	0	CSF3	17	38172769	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	30593053	38172769	43022441	110	7693											
AOC2	314	broad.mit.edu	37	chr17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagctttggactcggccGtaacagccgaggcttggtgc	14	11	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTCGGCCGTAACAGCCGA	0.542																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1159-1161)cGt>cAt		amine oxidase, copper containing 2 (retina-specific)							72	71	71					17																	40997803		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997803G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1160G>A	17.37:g.40997803G>A	ENSP00000253799:p.Arg387His					AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1187	+		Breast(137;0.000143)	387					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1160G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	6.237	0.411948	0.11812	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03982	3.74;3.74	5.29	-3.98	0.04082	Copper amine oxidase, C-terminal (3);	0.269428	0.36034	N	0.002840	T	0.03305	0.0096	L	0.46885	1.475	0.09310	N	0.99999	B;B	0.15719	0.014;0.011	B;B	0.20955	0.032;0.019	T	0.45145	-0.9281	10	0.15499	T	0.54	-12.3524	4.1699	0.10324	0.3387:0.0:0.3364:0.3249	.	387;387	O75106;O75106-2	AOC2_HUMAN;.	H	387	ENSP00000253799:R387H;ENSP00000406134:R387H	ENSP00000253799:R387H	R	+	2	0	AOC2	38251329	0.000000	0.05858	0.007000	0.13788	0.118000	0.20060	0.278000	0.18753	-1.127000	0.02925	0.543000	0.68304	CGT		0.542	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	443	0	0	0	1	0	5	443					A	40997803	G	A	40997803	3	1	64	1	0	0	0	0	1	0	0	0	727	1145	40	1	1162	1	AOC2	17	40997803	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	2825034	40997803	40197407	111	7694											
KPNB1	3837	broad.mit.edu	37	chr17	45755737	45755737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttggaagcctatactGgaatcgtccagggattaaag	12	8	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45755737G>A	ENST00000290158.4	+	19	2718	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R	KPNB1_ENST00000535458.2_Missense_Mutation_p.G626R|KPNB1_ENST00000537679.1_Missense_Mutation_p.G555R|KPNB1_ENST00000540627.1_Missense_Mutation_p.G626R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	771					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCCTATACTGGAATCGTCCA	0.478																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2311-2313)Gga>Aga		karyopherin (importin) beta 1							121	108	112					17																	45755737		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45755737G>A	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2311G>A	17.37:g.45755737G>A	ENSP00000290158:p.Gly771Arg					KPNB1_ENST00000540627.1_Missense_Mutation_p.G626R|KPNB1_ENST00000537679.1_Missense_Mutation_p.G555R|KPNB1_ENST00000535458.2_Missense_Mutation_p.G626R	p.G771R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			19	2718	+			771					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2311G>A	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675623	0.47781	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	H	0.94925	3.6	0.46954	D	0.999263	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89952	0.4080	9	0.62326	D	0.03	-14.1215	19.9705	0.97284	0.0:0.0:1.0:0.0	.	555;771	F5H4R7;Q14974	.;IMB1_HUMAN	R	626;771;626;555	ENSP00000438253:G626R;ENSP00000290158:G771R;ENSP00000438964:G626R;ENSP00000445006:G555R	ENSP00000290158:G771R	G	+	1	0	KPNB1	43110736	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	9.841000	0.99482	2.728000	0.93425	0.655000	0.94253	GGA		0.478	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		5	379	0	0	0	1	0	5	379					A	45755737	G	A	45755737	3	1	64	1	0	0	0	0	1	0	0	0	8465	1349	47	2	2385	2	KPNB1	17	45755737	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	4757934	45755737	35439473	112	7695											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			8	353						8	353	---	---	---	---	-	48940612	GTG	-	48940610	7	5	64	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-H8-A6C1-01A-11D-A32N-08	3184873	48940610	32254600	113	7696											
GPRC5C	55890	broad.mit.edu	37	chr17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagcagaagggtcagaGcatgttcgtggagaacaagg	16	5	1	4			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000392627.1	+	2	2265	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	335					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGGTCAGAGCATGTTCGTG	0.577																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1138-1140)aGc>aAc		G protein-coupled receptor, family C, group 5, member C							95	93	94					17																	72436919		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436919G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1139G>A	17.37:g.72436919G>A	ENSP00000376403:p.Ser380Asn					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N	p.S380N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	2265	+			335					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1139G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552906	0.27739	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18657	2.2	5.42	5.42	0.78866	.	0.522318	0.24688	N	0.036404	T	0.17704	0.0425	N	0.21373	0.66	0.38149	D	0.938672	B;B;B	0.22800	0.045;0.045;0.075	B;B;B	0.22386	0.017;0.017;0.039	T	0.06826	-1.0805	10	0.33141	T	0.24	-17.489	18.2129	0.89876	0.0:0.0:1.0:0.0	.	335;335;347	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	N	335;380;46;347;335	ENSP00000376405:S347N	ENSP00000262616:S46N	S	+	2	0	GPRC5C	69948514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.785000	0.68998	2.549000	0.85964	0.561000	0.74099	AGC		0.577	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			7	267	0	0	0	1	0	7	267					A	72436919	G	A	72436919	3	1	64	1	0	0	0	0	1	0	0	0	6756	971	34	2	1153	2	GPRC5C	17	72436919	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	23496309	72436919	8758291	114	7697											
RNF213	57674	broad.mit.edu	37	chr17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaatacaaggctctccGtgatgctgtggccaaagctg	12	10	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4338					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13012-13014)cGt>cAt		ring finger protein 213							133	105	114					17																	78348328		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348328G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13013G>A	17.37:g.78348328G>A	ENSP00000464087:p.Arg4338His					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H	p.R4338H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		50	13156	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13013G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164767	0.78339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.35236	1.32	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.84219	2.685	0.35619	D	0.809306	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76310	-0.3006	10	0.72032	D	0.01	.	16.3893	0.83528	0.0:0.0:1.0:0.0	.	4387;2411	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4338;4387;2411	ENSP00000338218:R2411H	ENSP00000338218:R2411H	R	+	2	0	RNF213	75962923	1.000000	0.71417	0.113000	0.21522	0.520000	0.34377	7.735000	0.84939	2.357000	0.79964	0.561000	0.74099	CGT		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		75	279	0	0	0	1	0	75	279					A	78348328	G	A	78348328	3	1	64	1	0	0	0	0	1	0	0	0	13527	1145	40	1	13526	1	RNF213	17	78348328	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5911409	78348328	2846882	115	7698											
TXNDC2	84203	broad.mit.edu	37	chr18	9887527	9887527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaagtccccagaagaaAccatccagcccaagaagggt	8	15	0	3	rs145411351		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr18:9887527A>G	ENST00000306084.6	+	2	1250	c.1051A>G	c.(1051-1053)Acc>Gcc	p.T351A	TXNDC2_ENST00000357775.5_Missense_Mutation_p.T284A|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	351	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAGAAGAAACCATCCAGCC	0.572																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1051-1053)Acc>Gcc		thioredoxin domain containing 2 (spermatozoa)							152	144	147					18																	9887527		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887527A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1051A>G	18.37:g.9887527A>G	ENSP00000304908:p.Thr351Ala					TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.T284A	p.T351A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1250	+			351			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1051A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	8.263	0.811606	0.16537	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	4.01	-4.72	0.03269	.	.	.	.	.	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.22152	0.038	T	0.37979	-0.9682	8	.	.	.	-0.766	2.7973	0.05405	0.4449:0.1147:0.3278:0.1126	.	351	Q86VQ3	TXND2_HUMAN	A	149;284;351;336	ENSP00000350419:T284A;ENSP00000304908:T351A	.	T	+	1	0	TXNDC2	9877527	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.555000	0.02170	-1.404000	0.02050	-1.110000	0.02074	ACC		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	661	0	0	0	1	0	5	661					G	9887527	A	G	9887527	3	3	64	1	0	0	0	0	1	0	0	0	16851	43	2	4	1057	4	TXNDC2	18	9887527	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08		9887527	68189721	116	7699											
GNA11	2767	broad.mit.edu	37	chr19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgaccgacgttgaccGcatcgccaccttgggctacc	9	17	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							92	78	82					19																	3114962		2203	4299	6502	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His						p.R166H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	GNA11	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		6	557	0	0	0	1	0	6	557					A	3114962	G	A	3114962	3	1	64	1	0	0	0	0	1	0	0	0	6528	1087	38	1	511	1	GNA11	19	3114962	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		3114962	56014021	117	7700											
ZNRF4	148066	broad.mit.edu	37	chr19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagctcggtggactttgCggatctgccggcgctgttcg	15	12	1	0	rs199676664		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)gCg>gTg		zinc and ring finger 4							50	59	56					19																	5455843		2112	4215	6327	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455843C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.341C>T	19.37:g.5455843C>T	ENSP00000222033:p.Ala114Val						p.A114V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	418	+			114					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.341C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	5.011	0.187799	0.09547	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	4.34	0.627	0.17675	.	0.646960	0.14779	U	0.298908	T	0.03915	0.0110	L	0.58101	1.795	0.09310	N	1	P	0.35011	0.48	B	0.21360	0.034	T	0.38908	-0.9639	10	0.30854	T	0.27	.	4.0098	0.09618	0.0:0.3583:0.2521:0.3896	.	114	Q8WWF5	ZNRF4_HUMAN	V	114	ENSP00000222033:A114V	ENSP00000222033:A114V	A	+	2	0	ZNRF4	5406843	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	-0.284000	0.08422	0.267000	0.21916	0.491000	0.48974	GCG		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	618	0	0	0	1	0	6	618					T	5455843	C	T	5455843	3	4	64	1	0	0	0	0	1	0	0	0	18267	768	27	1	343	1	ZNRF4	19	5455843	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2340881	5455843	53673140	118	7701											
HNRNPM	4670	broad.mit.edu	37	chr19	8550904	8550904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcctgagcatggagcGcatggtgcccgcaggtatgg	17	10	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:8550904G>A	ENST00000325495.4	+	14	1633	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCATGGAGCGCATGGTGCCC	0.687																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1474-1476)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							48	51	50					19																	8550904		2202	4297	6499	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550904G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1592G>A	19.37:g.8550904G>A	ENSP00000325376:p.Arg531His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531H	p.R492H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1707	+			531			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1475G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841754	0.51057	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.8;1.65	5.62	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.60455	1.87	0.58432	D	0.999999	B;P;D;B	0.52996	0.014;0.928;0.957;0.102	B;B;B;B	0.39876	0.003;0.226;0.312;0.01	T	0.20042	-1.0287	10	0.72032	D	0.01	.	13.1101	0.59268	0.0774:0.0:0.9226:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	531;492;416;88	ENSP00000325376:R531H;ENSP00000325732:R492H	ENSP00000325376:R531H	R	+	2	0	HNRNPM	8456904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.842000	0.69417	1.375000	0.46248	0.591000	0.81541	CGC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	489	0	0	0	1	0	5	489					A	8550904	G	A	8550904	3	1	64	1	0	0	0	0	1	0	0	0	7301	1087	38	1	1646	1	HNRNPM	19	8550904	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	3095061	8550904	50578079	119	7702											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	513	0	0	0	1	0	6	513					T	12575380	C	T	12575380	2	4	64	1	0	0	0	0	0	0	0	1	18166	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	4024476	12575380	46553603	120	7703											
MAN2B1	4125	broad.mit.edu	37	chr19	12760241	12760241	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgggtcgataatcccGcctggggttgggggtgagct	18	9	0	1	rs569187294		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	MAN2B1_ENST00000221363.4_Splice_Site_p.R756W|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATAATCCCGCCTGGGGTTG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13369	0.0		0.0	False		,,,				2504	0.0					ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e19-1		mannosidase, alpha, class 2B, member 1							49	39	43					19																	12760241		2203	4300	6503	SO:0001630	splice_region_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760241G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2268-1C>T	19.37:g.12760241G>A						MAN2B1_ENST00000221363.4_Splice_Site_p.R756_splice	p.R757_splice	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			19	2309	-			757					G5E928|O15330|Q16680|Q93094|Q9BW13	Splice_Site	SNP	ENST00000456935.2	37	c.2267_splice	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562672	0.45694	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.84589	-1.87;-1.87	4.55	0.923	0.19413	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.873700	0.09327	N	0.817467	D	0.92893	0.7739	M	0.93062	3.375	0.33548	D	0.595735	D;D	0.89917	1.0;1.0	D;D	0.75484	0.926;0.986	D	0.88505	0.3085	10	0.72032	D	0.01	-30.2459	7.2715	0.26260	0.0:0.1649:0.3651:0.47	.	756;757	G5E928;O00754	.;MA2B1_HUMAN	W	757;696;756	ENSP00000395473:R757W;ENSP00000221363:R756W	ENSP00000221363:R756W	R	-	1	2	MAN2B1	12621241	1.000000	0.71417	0.950000	0.38849	0.337000	0.28794	2.679000	0.46909	0.113000	0.18004	0.561000	0.74099	CGG		0.522	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		Missense_Mutation	20	96	0	0	0	1	0	20	96					A	12760241	G	A	12760241	5	1	64	1	0	0	0	0	0	0	1	0	9257	1101	38	1	790	1	MAN2B1	19	12760241	Splice_Site	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	184861	12760241	46368742	121	7704											
C19orf55	148137	broad.mit.edu	37	chr19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtccctactgcgGtcaacgtgaccagtgcatcc	9	14	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F			Q2NL68	PRSR3_HUMAN		164										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			CCCTACTGCGGTCAACGTGAC	0.572																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(490-492)Gtc>Ttc		chromosome 19 open reading frame 55							66	71	69					19																	36253204		2025	4196	6221	SO:0001583	missense	148137							g.chr19:36253204G>T																												ENST00000544099.1:c.490G>T	19.37:g.36253204G>T	ENSP00000467267:p.Val164Phe					C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F	p.V164F			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	553	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		164					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.490G>T		.	.	.	.	.	.	.	.	.	.	G	10.66	1.413686	0.25465	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.88	-1.07	0.09968	.	1.131890	0.06870	N	0.800665	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.32;0.115;0.115	B;B;B	0.29267	0.086;0.1;0.1	T	0.22871	-1.0204	10	0.48119	T	0.1	-1.0686	6.7356	0.23407	0.5021:0.0:0.4979:0.0	.	164;163;164	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	F	78;164;163;79;78	ENSP00000394231:V78F;ENSP00000380116:V164F;ENSP00000301165:V163F;ENSP00000440357:V78F	ENSP00000301165:V163F	V	+	1	0	C19orf55	40945044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.503000	0.22610	-0.106000	0.12110	-0.781000	0.03364	GTC		0.572	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	52	1	0	7.48243e-07	1	7.97308e-07	10	52					T	36253204	G	T	36253204	3	4	64	1	0	0	0	0	1	0	0	0	1944	1261	44	3	508	3	C19orf55	19	36253204	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	23492963	36253204	22875779	122	7705											
HIPK4	147746	broad.mit.edu	37	chr19	40886790	40886790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacttgcagcgagaggcGgtagctgcgcagcgagagct	15	12	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:40886790G>A	ENST00000291823.2	-	3	1392	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	370					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCGAGAGGCGGTAGCTGCGC	0.677																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1108-1110)Cgc>Tgc		homeodomain interacting protein kinase 4							62	67	65					19																	40886790		2202	4297	6499	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886790G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1108C>T	19.37:g.40886790G>A	ENSP00000291823:p.Arg370Cys						p.R370C	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1392	-			370					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1108C>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596061	0.66332	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.55	5.55	0.83447	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000034	T	0.73241	0.3562	L	0.29908	0.895	0.53688	D	0.999979	D	0.89917	1.0	D	0.70016	0.967	T	0.75900	-0.3154	10	0.72032	D	0.01	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	370	Q8NE63	HIPK4_HUMAN	C	370;335	ENSP00000291823:R370C	ENSP00000291823:R370C	R	-	1	0	HIPK4	45578630	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	5.472000	0.66768	2.608000	0.88229	0.462000	0.41574	CGC		0.677	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		5	684	0	0	0	1	0	5	684					A	40886790	G	A	40886790	3	1	64	1	0	0	0	0	1	0	0	0	7149	1116	39	1	750	1	HIPK4	19	40886790	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	4633586	40886790	18242193	123	7706											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			9	739						9	739	---	---	---	---	-	47572403	CTC	-	47572401	7	5	64	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-H8-A6C1-01A-11D-A32N-08	6685611	47572401	11556582	124	7707											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	693	0	0	0	1	0	7	693					A	53644386	T	A	53644386	2	1	64	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	6071985	53644386	5484597	125	7708											
NLRP2	55655	broad.mit.edu	37	chr19	55494005	55494005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggagaagaagaagccGgtgcccgtcctcctggggag	17	10	0	3	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000391721.4_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(937-939)ccG>ccA		NLR family, pyrin domain containing 2		G	,,,	1,4405	2.1+/-5.4	0,1,2202	48	45	46		939,873,870,939	-3.1	0	19	dbSNP_129	46	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,,,	313/1063,291/1041,290/1040,313/1063	55494005	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494005G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.939G>A	19.37:g.55494005G>A						NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000391721.4_Silent_p.P289P	p.P313P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1082	+			313			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.939G>A	CCDS12913.1																																																																																				0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		69	263	0	0	0	1	0	69	263					A	55494005	G	A	55494005	2	1	64	1	0	0	0	0	0	0	0	1	10519	1103	39	1		1	NLRP2	19	55494005	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1849619	55494005	3634978	126	7709											
BMP2	650	broad.mit.edu	37	chr20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgagtgggaaaacaaccCggagattcttctttaattta	8	7	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GAAAACAACCCGGAGATTCTT	0.388																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(388-390)Cgg>Tgg		bone morphogenetic protein 2	Simvastatin(DB00641)						44	49	47					20																	6758933		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6758933C>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.388C>T	20.37:g.6758933C>T	ENSP00000368104:p.Arg130Trp						p.R130W	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			3	1607	+			130						Missense_Mutation	SNP	ENST00000378827.4	37	c.388C>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635820	0.47049	.	.	ENSG00000125845	ENST00000378827	T	0.65178	-0.14	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.053759	0.85682	D	0.000000	T	0.74928	0.3781	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.70040	-0.4981	10	0.37606	T	0.19	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	130	P12643	BMP2_HUMAN	W	130	ENSP00000368104:R130W	ENSP00000368104:R130W	R	+	1	2	BMP2	6706933	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.907000	0.63300	2.937000	0.99478	0.650000	0.86243	CGG		0.388	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			17	270	0	0	0	1	0	17	270					T	6758933	C	T	6758933	3	4	64	1	0	0	0	0	1	0	0	0	1461	643	23	1	394	1	BMP2	20	6758933	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		6758933	56266587	127	7710											
GZF1	64412	broad.mit.edu	37	chr20	23345148	23345148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagtatcagggtgtccGcaaagacttcatggcccaca	12	11	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:23345148G>A	ENST00000338121.5	+	2	205	c.128G>A	c.(127-129)cGc>cAc	p.R43H	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R43H|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGGGTGTCCGCAAAGACTTC	0.502																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(127-129)cGc>cAc		GDNF-inducible zinc finger protein 1							87	81	83					20																	23345148		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345148G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.128G>A	20.37:g.23345148G>A	ENSP00000338290:p.Arg43His					GZF1_ENST00000377051.2_Missense_Mutation_p.R43H|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron	p.R43H			Q9H116	GZF1_HUMAN			2	205	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		43			BTB.		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.128G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031588	0.08101	.	.	ENSG00000125812	ENST00000338121;ENST00000424216;ENST00000377051	T;T	0.67698	-0.28;-0.28	5.33	4.37	0.52481	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.252304	0.27686	N	0.018276	T	0.38054	0.1026	N	0.01874	-0.695	0.80722	D	1	B	0.27140	0.169	B	0.23419	0.046	T	0.32052	-0.9921	10	0.45353	T	0.12	.	9.8399	0.40993	0.1587:0.0:0.8413:0.0	.	43	Q9H116	GZF1_HUMAN	H	43	ENSP00000338290:R43H;ENSP00000366250:R43H	ENSP00000338290:R43H	R	+	2	0	GZF1	23293148	0.744000	0.28250	0.759000	0.31340	0.105000	0.19272	3.658000	0.54482	1.235000	0.43724	0.650000	0.86243	CGC		0.502	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		5	265	0	0	0	1	0	5	265					A	23345148	G	A	23345148	3	1	64	1	0	0	0	0	1	0	0	0	6944	1087	38	1	130	1	GZF1	20	23345148	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	16586215	23345148	39680372	128	7711											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			10	366						10	366	---	---	---	---	-	25657232	TG	-	25657231	7	5	64	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-H8-A6C1-01A-11D-A32N-08	2312083	25657231	37368289	129	7712											
L3MBTL	26013	broad.mit.edu	37	chr20	42161441	42161441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctgggcttccaggtggGcatgaagctggaggctgttg	16	10	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:42161441G>A	ENST00000427442.2	+	12	1406	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	348					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)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGTGGGCATGAAGCTG	0.612																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1042-1044)gGc>gAc		l(3)mbt-like 1 (Drosophila)							115	114	115					20																	42161441		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.chr20:42161441G>A	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.1247G>A	20.37:g.42161441G>A	ENSP00000402107:p.Gly416Asp					L3MBTL1_ENST00000427442.2_Missense_Mutation_p.G416D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D	p.G348D			Q9Y468	LMBL1_HUMAN			9	1175	+			348					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1043G>A	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.269847|5.269847	0.95429|0.95429	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000445228|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.|T;T;T;T;T;T	.|0.72615	.|-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85383|0.85383	0.5684|0.5684	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.985;0.995	D|D	0.87290|0.87290	0.2298|0.2298	5|10	.|0.87932	.|D	.|0	.|.	17.6309|17.6309	0.88108|0.88108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|416;348;348	.|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	T|D	39|416;416;348;348;348;134	.|ENSP00000402107:G416D;ENSP00000398516:G416D;ENSP00000362227:G348D;ENSP00000403316:G348D;ENSP00000362226:G348D;ENSP00000410139:G134D	.|ENSP00000362226:G348D	A|G	+|+	1|2	0|0	L3MBTL1|L3MBTL1	41594855|41594855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.598000|9.598000	0.98277|0.98277	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.612	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		6	859	0	0	0	1	0	6	859					A	42161441	G	A	42161441	3	1	64	1	0	0	0	0	1	0	0	0	8622	1203	42	2	1077	2	L3MBTL	20	42161441	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	16504210	42161441	20864079	130	7713											
SAMSN1	64092	broad.mit.edu	37	chr21	15884872	15884872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtttctatatgggtggGcattctctccatcttcctca	7	12	4	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15884872G>A	ENST00000400566.1	-	4	383	c.302C>T	c.(301-303)gCc>gTc	p.A101V	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.A169V	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	101					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATATGGGTGGGCATTCTCTCC	0.448																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(505-507)gCc>gTc		SAM domain, SH3 domain and nuclear localization signals 1							173	169	170					21																	15884872		1912	4122	6034	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15884872G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.302C>T	21.37:g.15884872G>A	ENSP00000383411:p.Ala101Val					SAMSN1_ENST00000400566.1_Missense_Mutation_p.A101V|SAMSN1_ENST00000400564.1_Intron	p.A169V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	5	680	-			101			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.506C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295914	0.10622	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.44881	0.91;0.91	5.72	1.77	0.24775	.	1.003330	0.08026	N	0.992717	T	0.37433	0.1003	L	0.49350	1.555	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.12156	0.007;0.004	T	0.30297	-0.9983	10	0.33940	T	0.23	-14.6082	9.394	0.38390	0.3109:0.0:0.6891:0.0	.	169;101	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	169;101	ENSP00000285670:A169V;ENSP00000383411:A101V	ENSP00000285670:A169V	A	-	2	0	SAMSN1	14806743	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.015000	0.13355	0.043000	0.15746	-0.355000	0.07637	GCC		0.448	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			5	422	0	0	0	1	0	5	422					A	15884872	G	A	15884872	3	1	64	1	0	0	0	0	1	0	0	0	13880	1203	42	2	839	2	SAMSN1	21	15884872	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		15884872	32245023	131	7714											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			10	1210						10	1210	---	---	---	---	-	34799292	T	-	34799292	7	5	64	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	18914420	34799292	13330603	132	7715											
MORC3	23515	broad.mit.edu	37	chr21	37741700	37741700	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagctgaagcaaagatAcatgaaacccaggaaaccac	9	9	0	4			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGCAAAGATACATGAAACCC	0.413																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2032-2034)atA>atT		MORC family CW-type zinc finger 3							80	74	76					21																	37741700		1934	4144	6078	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741700A>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2034A>T	21.37:g.37741700A>T						MORC3_ENST00000487909.1_3'UTR	p.I678I	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2110	+			678					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.2034A>T	CCDS42924.1																																																																																				0.413	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		42	201	0	0	0	1	0	42	201					T	37741700	A	T	37741700	2	4	64	1	0	0	0	0	0	0	0	1	9744	381	14	5		5	MORC3	21	37741700	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	2942408	37741700	10388195	133	7716											
SGSM1	129049	broad.mit.edu	37	chr22	25280108	25280108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctccagacttgccctgCgatgctggacagggactgac	13	12	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400359.4	+	16	1756	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	SGSM1_ENST00000400358.4_Silent_p.C528C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTGCCCTGCGATGCTGGAC	0.582																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1582-1584)tgC>tgT		small G protein signaling modulator 1							69	69	69					22																	25280108		2052	4189	6241	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25280108C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1749C>T	22.37:g.25280108C>T						SGSM1_ENST00000400359.4_Silent_p.C583C	p.C528C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			15	1641	+			583					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1584C>T	CCDS46674.1																																																																																				0.582	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		29	154	0	0	0	1	0	29	154					T	25280108	C	T	25280108	2	4	64	1	0	0	0	0	0	0	0	1	14272	776	27	1		1	SGSM1	22	25280108	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		25280108	26024458	134	7717											
TRIOBP	11078	broad.mit.edu	37	chr22	38151606	38151606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacctcaggcatccggcGgaactggatcgaggctctga	13	12	2	2	rs150426001	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38151606G>A	ENST00000406386.3	+	15	5882	c.5627G>A	c.(5626-5628)cGg>cAg	p.R1876Q	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1876	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCATCCGGCGGAACTGGATC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		20484	0.002		0.0	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(5626-5628)cGg>cAg		TRIO and F-actin binding protein		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121	86	98		5627,488,488	4.7	1	22	dbSNP_134	98	0,8600		0,0,4300	yes	missense,missense,missense	TRIOBP	NM_001039141.2,NM_007032.5,NM_138632.2	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1876/2366,163/653,163/432	38151606	1,13005	2203	4300	6503	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38151606G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5627G>A	22.37:g.38151606G>A	ENSP00000384312:p.Arg1876Gln					RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q	p.R1876Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			15	5882	+	Melanoma(58;0.0574)		1876			PH.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.5627G>A	CCDS43015.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	35	5.474222	0.96291	2.27E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.69	4.69	0.59074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.82384	0.5025	L	0.42632	1.34	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.994	D	0.84551	0.0644	9	0.72032	D	0.01	.	17.9959	0.89184	0.0:0.0:1.0:0.0	.	163;163;1876	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1876;163;163;122;92	ENSP00000384312:R1876Q;ENSP00000383913:R163Q;ENSP00000386026:R163Q;ENSP00000396946:R122Q;ENSP00000387881:R92Q	ENSP00000386026:R163Q	R	+	2	0	TRIOBP	36481552	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.307000	0.96226	2.310000	0.77875	0.561000	0.74099	CGG		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	264	0	0	0	1	0	4	264					A	38151606	G	A	38151606	3	1	64	1	0	0	0	0	1	0	0	0	16606	1116	39	1	5864	1	TRIOBP	22	38151606	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	12871498	38151606	13152960	135	7718											
ALG12	79087	broad.mit.edu	37	chr22	50298080	50298080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtggctgagtaggcgGcattcaccacgaggtgtccg	17	11	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:50298080G>A	ENST00000330817.6	-	8	1340	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	356					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTAGGCGGCATTCACCAC	0.537																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1066-1068)gCc>gTc		ALG12, alpha-1,6-mannosyltransferase							65	59	61					22																	50298080		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50298080G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1067C>T	22.37:g.50298080G>A	ENSP00000333813:p.Ala356Val						p.A356V	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	8	1340	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	356					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1067C>T	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.007|2.007	-0.428049|-0.428049	0.04701|0.04701	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	T|.	0.58652|.	0.32|.	4.77|4.77	3.75|3.75	0.43078|0.43078	.|.	0.105493|.	0.64402|.	N|.	0.000005|.	T|T	0.55178|0.55178	0.1904|0.1904	L|L	0.31476|0.31476	0.935|0.935	0.46654|0.46654	D|D	0.999148|0.999148	B|.	0.14805|.	0.011|.	B|.	0.16289|.	0.015|.	T|T	0.59511|0.59511	-0.7441|-0.7441	10|6	0.08381|0.87932	T|D	0.77|0	-15.2675|-15.2675	12.3635|12.3635	0.55217|0.55217	0.0843:0.0:0.9156:0.0|0.0843:0.0:0.9156:0.0	.|.	356|.	Q9BV10|.	ALG12_HUMAN|.	V|S	356|2	ENSP00000333813:A356V|.	ENSP00000333813:A356V|ENSP00000329560:P2S	A|P	-|-	2|1	0|0	ALG12|ALG12	48684084|48684084	0.980000|0.980000	0.34600|0.34600	0.003000|0.003000	0.11579|0.11579	0.004000|0.004000	0.04260|0.04260	3.622000|3.622000	0.54217|0.54217	1.104000|1.104000	0.41587|0.41587	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.537	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		5	290	0	0	0	1	0	5	290					A	50298080	G	A	50298080	3	1	64	1	0	0	0	0	1	0	0	0	514	1203	42	2	411	2	ALG12	22	50298080	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	12146474	50298080	1006486	136	7719											
RGAG1	57529	broad.mit.edu	37	chrX	109695238	109695238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctagagtaatgtccGcacagttaacaatggccaaa	8	11	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1393-1395)Gca>Aca		retrotransposon gag domain containing 1							151	131	138					X																	109695238		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695238G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1639	+			465					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1393G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	395	0	0	0	1	0	6	395					A	109695238	G	A	109695238	3	1	64	1	0	0	0	0	1	0	0	0	13324	1087	38	1	1395	1	RGAG1	23	109695238	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		109695238	45575322	137	7720											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	278						7	278	---	---	---	---	-	149639635	GCA	-	149639633	7	5	64	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-H8-A6C1-01A-11D-A32N-08	39944395	149639633	5630927	138	7721											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	166	0	0	0	1	0	5	166					A	150156360	G	A	150156360	2	1	64	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	516727	150156360	5114200	139	7722											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	290						7	290	---	---	---	---	-	151303908	AGG	-	151303906	7	5	64	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-H8-A6C1-01A-11D-A32N-08	1147546	151303906	3966654	140	7723											
AADACL3	126767	broad.mit.edu	37	chr1	12779503	12779503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatttgagaagctcagaatCtgttctatgccccaattttt	6	8	3	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12779503C>G	ENST00000359318.5	+	2	229	c.24C>G	c.(22-24)atC>atG	p.I8M	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	8							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGAATCTGTTCTATGC	0.478																																						ENST00000359318.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(22-24)atC>atG		arylacetamide deacetylase-like 3							208	212	211					1																	12779503		1913	4124	6037	SO:0001583	missense	126767						hydrolase activity	g.chr1:12779503C>G		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.24C>G	1.37:g.12779503C>G	ENSP00000352268:p.Ile8Met					AADACL3_ENST00000332530.3_Intron	p.I8M	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	229	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	8					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.24C>G	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112902	0.37242	.	.	ENSG00000188984	ENST00000359318	T	0.07114	3.22	4.44	4.44	0.53790	.	0.459980	0.21394	N	0.075257	T	0.25158	0.0611	M	0.77313	2.365	0.28056	N	0.933172	D	0.67145	0.996	D	0.63877	0.919	T	0.03121	-1.1070	10	0.72032	D	0.01	-22.8393	10.4714	0.44640	0.0:0.8025:0.1975:0.0	.	8	Q5VUY0	ADCL3_HUMAN	M	8	ENSP00000352268:I8M	ENSP00000352268:I8M	I	+	3	3	AADACL3	12702090	0.319000	0.24607	0.922000	0.36590	0.356000	0.29392	-0.363000	0.07593	2.307000	0.77673	0.491000	0.48974	ATC		0.478	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		181	859	0	0	0	1	0	181	859					G	12779503	C	G	12779503	3	3	65	1	0	0	0	0	1	0	0	0	12	903	32	5	34	5	AADACL3	1	12779503	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		12779503	236471118	1	7724											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg		leucine zipper protein 1		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418504G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp					LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		6	882	0	0	0	1	0	6	882					A	23418504	G	A	23418504	3	1	65	1	0	0	0	0	1	0	0	0	9124	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	10639001	23418504	225832117	2	7725											
CATSPER4	378807	broad.mit.edu	37	chr1	26524778	26524778	+	Splice_Site	DEL	T	T	-													gctcttttctctctgacaggTtttttccgtgtttggagtaa							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.e6-1		cation channel, sperm associated 4							297	312	307					1																	26524778		2203	4300	6503	SO:0001630	splice_region_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524778delT	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.679-1T>-	1.37:g.26524778delT							p.V227_splice	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	747	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	227					A1A4W6|Q5VY71	Splice_Site	DEL	ENST00000456354.2	37	c.678_splice	CCDS30645.1																																																																																				0.488	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	Frame_Shift_Del	8	2302						8	2302	---	---	---	---	-	26524778	T	-	26524778	8	5	65	1	0	1	0	1	0	0	1	0	2697	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	3106274	26524778	222725843	3	7726											
UBXN11	91544	broad.mit.edu	37	chr1	26608892	26608892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccgggaccgggaccGggacagggaccaggactgaa	19	11	0	1	rs367932248|rs200210107		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000357089.4_Silent_p.P454P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49	60	56		1101,1362,1461	0.6	0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	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.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374217.2_Silent_p.P454P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		7	444	0	0	0	1	0	7	444					A	26608892	G	A	26608892	2	1	65	1	0	0	0	0	0	0	0	1	16967	1103	39	1		1	UBXN11	1	26608892	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	84114	26608892	222641729	4	7727											
CSF3R	1441	broad.mit.edu	37	chr1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcccgtccttgggcaCgcagtccaggatggagtccc	13	15	1	0	rs186379741		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:36939177C>T	ENST00000373106.1	-	6	1079	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000373103.1_Missense_Mutation_p.V178M|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	178	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20168	0.0		0.0	False		,,,				2504	0.0					ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(532-534)Gtg>Atg		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						76	68	71					1																	36939177		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939177C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.532G>A	1.37:g.36939177C>T	ENSP00000362198:p.Val178Met					CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M	p.V178M	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			6	1079	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	178			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.532G>A	CCDS413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.097	0.573316	0.13623	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.22	-0.00103	0.14035	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.150820	0.06140	N	0.672141	T	0.21881	0.0527	L	0.31664	0.95	0.24342	N	0.99496	D;D;P;P	0.54047	0.964;0.958;0.929;0.723	B;B;B;B	0.36418	0.224;0.174;0.084;0.069	T	0.25606	-1.0127	10	0.34782	T	0.22	-5.3635	7.0679	0.25161	0.0:0.3842:0.0:0.6158	.	178;178;178;178	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	M	178	ENSP00000362198:V178M;ENSP00000362196:V178M;ENSP00000362195:V178M;ENSP00000355406:V178M;ENSP00000332180:V178M;ENSP00000401588:V178M;ENSP00000345013:V178M;ENSP00000397568:V178M	ENSP00000332180:V178M	V	-	1	0	CSF3R	36711764	0.188000	0.23250	0.026000	0.17262	0.003000	0.03518	0.000000	0.12993	0.159000	0.19401	-0.192000	0.12808	GTG		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		61	253	0	0	0	1	0	61	253					T	36939177	C	T	36939177	3	4	65	1	0	0	0	0	1	0	0	0	3948	536	19	1	2216	1	CSF3R	1	36939177	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	10330285	36939177	212311444	5	7728											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947303	37947303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctatgacgacagattcAttgtgaagctggcctacgag	12	8	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:37947303A>G	ENST00000373087.6	+	4	801	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGACAGATTCATTGTGAAGCT	0.572																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(685-687)Att>Gtt		zinc finger CCCH-type containing 12A							281	243	256					1																	37947303		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947303A>G		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.685A>G	1.37:g.37947303A>G	ENSP00000362179:p.Ile229Val						p.I229V	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			4	801	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	229						Missense_Mutation	SNP	ENST00000373087.6	37	c.685A>G	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753618	0.89753	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.56776	0.44	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.66939	2.045	0.80722	D	1	P	0.51351	0.944	D	0.64042	0.921	T	0.71258	-0.4646	10	0.54805	T	0.06	-24.1349	16.1549	0.81657	1.0:0.0:0.0:0.0	.	229	Q5D1E8	ZC12A_HUMAN	V	229	ENSP00000362179:I229V	ENSP00000362174:I229V	I	+	1	0	ZC3H12A	37719890	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.281000	0.95811	2.209000	0.71365	0.533000	0.62120	ATT		0.572	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		97	398	0	0	0	1	0	97	398					G	37947303	A	G	37947303	3	3	65	1	0	0	0	0	1	0	0	0	17614	217	8	4	695	4	ZC3H12A	1	37947303	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	1008126	37947303	211303318	6	7729											
DMRTB1	63948	broad.mit.edu	37	chr1	53930351	53930353	+	In_Frame_Del	DEL	GCC	GCC	-													ttccagccaagctactacctGccgccgccgccgccgccact					rs75818218|rs566504124|rs147307088|rs375544915	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:53930351_53930353delGCC	ENST00000371445.3	+	3	847_849	c.792_794delGCC	c.(790-795)ctgccg>ctg	p.P270del	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	270	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.67																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(790-795)ctg>ct		DMRT-like family B with proline-rich C-terminal, 1																																				SO:0001651	inframe_deletion	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930351_53930353delGCC	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.792_794delGCC	1.37:g.53930360_53930362delGCC	ENSP00000360500:p.Pro270del					DMRTB1_ENST00000463126.1_3'UTR	p.LP264del	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			3	847_849	+			264			Pro-rich.		Q96SD2	In_Frame_Del	DEL	ENST00000371445.3	37	c.792_794delGCC	CCDS581.1																																																																																				0.67	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			7	367						7	367	---	---	---	---	-	53930353	GCC	-	53930351	7	5	65	1	0	1	0	1	0	0	0	0	4606	1306	46	0	802	0	DMRTB1	1	53930351	In_Frame_Del	DEL	GCC	TCGA-HV-A7OL-01A-11D-A33T-08	15983048	53930351	195320270	7	7730											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T													tacatccatttttcgctttcINStttttttttctagacctatt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		8	325						8	325	---	---	---	---	T	91406040	-	T	91406039	7	5	65	1	0	1	1	0	0	0	0	0	18113	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	37475688	91406039	157844582	8	7731											
ADAM30	11085	broad.mit.edu	37	chr1	120438703	120438703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagaaaacgcgcagatgtCggggcaacagaagtctcttg	14	8	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:120438703C>T	ENST00000369400.1	-	1	415	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	86					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCGCAGATGTCGGGGCAACAG	0.527																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(256-258)cGa>cAa		ADAM metallopeptidase domain 30							73	68	70					1																	120438703		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438703C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.257G>A	1.37:g.120438703C>T	ENSP00000358407:p.Arg86Gln						p.R86Q	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	415	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	86					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.257G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590440	0.66219	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05996	3.36	4.56	1.5	0.22942	Peptidase M12B, propeptide (1);	0.000000	0.32655	U	0.005818	T	0.04227	0.0117	L	0.60957	1.885	0.09310	N	1	P	0.52842	0.956	P	0.53490	0.727	T	0.27262	-1.0079	10	0.56958	D	0.05	.	2.9046	0.05716	0.1851:0.5349:0.1794:0.1006	.	86	Q9UKF2	ADA30_HUMAN	Q	86	ENSP00000358407:R86Q	ENSP00000358407:R86Q	R	-	2	0	ADAM30	120240226	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-1.640000	0.02009	0.132000	0.18615	0.462000	0.41574	CGA		0.527	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		5	368	0	0	0	1	0	5	368					T	120438703	C	T	120438703	3	4	65	1	0	0	0	0	1	0	0	0	248	884	31	1	2119	1	ADAM30	1	120438703	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	29032664	120438703	128811918	9	7732											
NBPF10	100132406	broad.mit.edu	37	chr1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagacgaagaccaagAcccaccatgccccaggtaac	10	13	0	4	rs587687982	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:145328417A>G	ENST00000342960.5	+	33	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	763						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458													.|||	607	0.121206	0.1233	0.1744	5008	,	,		9720	0.1944		0.0636	False		,,,				2504	0.0644					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4264-4266)gAc>gGc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145328417A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4265A>G	1.37:g.145328417A>G	ENSP00000345684:p.Asp1422Gly					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.D1422G	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4300	+	all_hematologic(923;0.032)		1422					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4265A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565282	0.00903	.	.	ENSG00000163386	ENST00000342960	T	0.05717	3.4	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.46091	-0.9216	5	0.17369	T	0.5	.	.	.	.	.	.	.	.	G	1422	ENSP00000345684:D1422G	ENSP00000345684:D1422G	D	+	2	0	NBPF10	144039774	0.001000	0.12720	0.022000	0.16811	0.513000	0.34164	-0.743000	0.04845	0.000000	0.14550	0.000000	0.15137	GAC		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	187	0	0	0	1	0	6	187					G	145328417	A	G	145328417	3	3	65	1	0	0	0	0	1	0	0	0	10234	275	10	4	4395	4	NBPF10	1	145328417	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	24889714	145328417	103922204	10	7733											
NBPF14	25832	broad.mit.edu	37	chr1	148012532	148012532	+	Frame_Shift_Del	DEL	T	T	-													caagagaaaagccaacatgcTtttcctccaatgcataaaag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:148012532delT	ENST00000369219.1	-	12	1443	c.1427delA	c.(1426-1428)aagfs	p.K476fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCCAACATGCTTTTCCTCCAA	0.443																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)agfs		neuroblastoma breakpoint family, member 14							4	3	3					1																	148012532		870	1958	2828	SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012532delT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1427delA	1.37:g.148012532delT	ENSP00000358221:p.Lys476fs						p.K476fs			Q5TI25	NBPFE_HUMAN			12	1443	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1427delA																																																																																					0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		7	5455						7	5455	---	---	---	---	-	148012532	T	-	148012532	7	5	65	1	0	1	0	1	0	0	0	0	10236	1609	56	0	1382	0	NBPF14	1	148012532	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	2684115	148012532	101238089	11	7734											
KPRP	448834	broad.mit.edu	37	chr1	152732580	152732580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggcgtcctgcagtgtgCcagcctcagggaagattctc	14	11	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152732580C>T	ENST00000606109.1	+	1	544	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000368773.1_Silent_p.C172C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522																																						ENST00000368773.1																			1	Substitution - coding silent(1)	p.C172C(1)	lung(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(514-516)tgC>tgT		keratinocyte proline-rich protein							119	121	120					1																	152732580		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732580C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.516C>T	1.37:g.152732580C>T						KPRP_ENST00000606109.1_Silent_p.C172C	p.C172C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	574	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		172			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.516C>T	CCDS30862.1																																																																																				0.522	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		5	590	0	0	0	1	0	5	590					T	152732580	C	T	152732580	2	4	65	1	0	0	0	0	0	0	0	1	8466	747	26	2		2	KPRP	1	152732580	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	4720048	152732580	96518041	12	7735											
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	10	10	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					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)			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)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				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						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191	193	192					1																	160261696		2203	4300	6503	SO:0001819	synonymous_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.chr1:160261696G>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.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	1015	0	0	0	1	0	7	1015					A	160261696	G	A	160261696	2	1	65	1	0	0	0	0	0	0	0	1	3736	1195	42	2		2	COPA	1	160261696	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7529116	160261696	88988925	13	7736											
C1orf110	339512	broad.mit.edu	37	chr1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggggaccctgtgccGgagataatgggcatttctgg	16	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(778-780)Cgg>Tgg		chromosome 1 open reading frame 110							84	82	82					1																	162824686		1883	4107	5990	SO:0001583	missense	339512							g.chr1:162824686G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	1.37:g.162824686G>A	ENSP00000356886:p.Arg260Trp					C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron	p.R260W	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	898	-			260					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.778C>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		0.502	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		4	352	0	0	0	1	0	4	352					A	162824686	G	A	162824686	3	1	65	1	0	0	0	0	1	0	0	0	1990	1115	39	1	134	1	C1orf110	1	162824686	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2562990	162824686	86425935	14	7737											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q	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	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	817						7	817	---	---	---	---	-	212115193	TGC	-	212115191	7	5	65	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-HV-A7OL-01A-11D-A33T-08	49290505	212115191	37135430	15	7738											
MIA3	375056	broad.mit.edu	37	chr1	222802593	222802593	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagtgagaagataaggctCtctgagggagaagccaaaga	14	5	1	6			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:222802593C>T	ENST00000344922.5	+	4	2056	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L677L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	677					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L677L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATAAGGCTCTCTGAGGGAG	0.488																																						ENST00000344922.5																			1	Substitution - coding silent(1)	p.L677L(1)	pancreas(1)	breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(2029-2031)ctC>ctT		melanoma inhibitory activity family, member 3							69	71	70					1																	222802593		1929	4124	6053	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802593C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2031C>T	1.37:g.222802593C>T						MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	p.L677L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2056	+			677					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.2031C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.388	-0.340457	0.05243	.	.	ENSG00000154305	ENST00000354906	T	0.19806	2.12	4.36	-6.82	0.01698	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34354	-0.9832	6	0.10111	T	0.7	.	3.8314	0.08876	0.0778:0.2549:0.3136:0.3537	.	.	.	.	F	260	ENSP00000355062:L260F	ENSP00000355062:L260F	L	+	1	0	MIA3	220869216	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.357000	0.00128	-2.045000	0.00910	-2.178000	0.00318	CTC		0.488	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		90	438	0	0	0	1	0	90	438					T	222802593	C	T	222802593	2	4	65	1	0	0	0	0	0	0	0	1	9606	900	32	2		2	MIA3	1	222802593	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	10687402	222802593	26448028	16	7739											
KIAA1383	54627	broad.mit.edu	37	chr1	232940983	232940984	+	Frame_Shift_Ins	INS	-	-	A													cttaatacaaggttggtggcINSaaaaaacggctcacaagtat							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:232940983_232940984insA	ENST00000418460.1	+	1	341_342	c.214_215insA	c.(214-216)caafs	p.Q72fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AGGTTGGTGGCAAAAAACGGCT	0.45																																						ENST00000418460.1																			0											c.(214-216)aaafs		microtubule-associated protein 10																																				SO:0001589	frameshift_variant	54627							g.chr1:232940983_232940984insA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.220dupA	1.37:g.232940989_232940989dupA	ENSP00000403208:p.Gln72fs						p.K72fs	NM_019090.2	NP_061963.2					1	341_342	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	ENST00000418460.1	37	c.214_215insA	CCDS44334.1																																																																																				0.45	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		92	533						92	533	---	---	---	---	A	232940984	-	A	232940983	7	5	65	1	0	1	1	0	0	0	0	0	8258	711	25	0	216	0	KIAA1383	1	232940983	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	10138390	232940983	16309638	17	7740											
OR11L1	391189	broad.mit.edu	37	chr1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaaatgcacagcacggCaattgacaggatgaagatgg	11	7	0	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	205						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A205S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACAGCACGGCAATTGACAGG	0.478																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.A205S(1)	lung(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(613-615)Gcc>Tcc		olfactory receptor, family 11, subfamily L, member 1							90	92	91					1																	248004586		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004586C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.613G>T	1.37:g.248004586C>A	ENSP00000348033:p.Ala205Ser						p.A205S	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	668	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		205						Missense_Mutation	SNP	ENST00000355784.2	37	c.613G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399533	0.25291	.	.	ENSG00000197591	ENST00000355784	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004118	T	0.25494	0.0620	N	0.17312	0.475	0.09310	N	1	P	0.42993	0.797	P	0.47346	0.544	T	0.04495	-1.0947	10	0.46703	T	0.11	.	5.0642	0.14574	0.0:0.5142:0.2962:0.1896	.	205	Q8NGX0	O11L1_HUMAN	S	205	ENSP00000348033:A205S	ENSP00000348033:A205S	A	-	1	0	OR11L1	246071209	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	-0.791000	0.04599	1.145000	0.42336	0.543000	0.68304	GCC		0.478	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		18	429	1	0	9.16793e-09	1	9.75814e-09	18	429					A	248004586	C	A	248004586	3	1	65	1	0	0	0	0	1	0	0	0	10972	710	25	3	359	3	OR11L1	1	248004586	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	15063603	248004586	1246035	18	7741											
OR2L2	26246	broad.mit.edu	37	chr1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctccttgctgtctaccGcatgcactctgcagaaggga	11	12	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483																																						ENST00000366479.2																			1	Substitution - Missense(1)	p.R226L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(676-678)cGc>cAc		olfactory receptor, family 2, subfamily L, member 2							245	216	226					1																	248202246		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202246G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>A	1.37:g.248202246G>A	ENSP00000355435:p.Arg226His					OR2L13_ENST00000366478.2_Intron	p.R226H	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	773	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.677G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.602	-0.828549	0.02734	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	N	0.775456	T	0.00144	0.0004	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.17979	0.02	T	0.07121	-1.0789	10	0.13470	T	0.59	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	H	226	ENSP00000355435:R226H	ENSP00000355435:R226H	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		7	778	0	0	0	1	0	7	778					A	248202246	G	A	248202246	3	1	65	1	0	0	0	0	1	0	0	0	11049	1087	38	1	679	1	OR2L2	1	248202246	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	197660	248202246	1048375	19	7742											
ODC1	4953	broad.mit.edu	37	chr2	10583672	10583672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcacgaaggtctcaggatCggtacagccgcttcctacat	10	13	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:10583672C>T	ENST00000234111.4	-	7	1120	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ODC1_ENST00000405333.1_Missense_Mutation_p.D204N|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	204					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GTCTCAGGATCGGTACAGCCG	0.478																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(610-612)Gat>Aat		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						77	80	79					2																	10583672		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10583672C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.610G>A	2.37:g.10583672C>T	ENSP00000234111:p.Asp204Asn					ODC1_ENST00000405333.1_Missense_Mutation_p.D204N	p.D204N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	7	1120	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		204					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.610G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174909	0.78564	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.52754	0.65;0.65	5.79	4.88	0.63580	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46512	-0.9186	10	0.51188	T	0.08	.	16.9563	0.86260	0.0:0.873:0.127:0.0	.	204	P11926	DCOR_HUMAN	N	204;204;75	ENSP00000234111:D204N;ENSP00000385333:D204N	ENSP00000234111:D204N	D	-	1	0	ODC1	10501123	1.000000	0.71417	0.912000	0.35992	0.934000	0.57294	4.734000	0.62043	2.746000	0.94184	0.655000	0.94253	GAT		0.478	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			83	464	0	0	0	1	0	83	464					T	10583672	C	T	10583672	3	4	65	1	0	0	0	0	1	0	0	0	10867	884	31	1	799	1	ODC1	2	10583672	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		10583672	232615701	20	7743											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	458						7	458	---	---	---	---	-	26693556	CTT	-	26693554	7	5	65	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-HV-A7OL-01A-11D-A33T-08	16109882	26693554	216505819	21	7744											
C2orf16	84226	broad.mit.edu	37	chr2	27804477	27804477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagaggagccatcgcGgtccctcagagagaagccat	11	15	1	3	rs112465116		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:27804477G>A	ENST00000408964.2	+	1	5089	c.5038G>A	c.(5038-5040)Ggt>Agt	p.G1680S	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1680	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGCCATCGCGGTCCCTCAGA	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5038-5040)Ggt>Agt		chromosome 2 open reading frame 16							146	151	149					2																	27804477		1915	4123	6038	SO:0001583	missense	84226							g.chr2:27804477G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5038G>A	2.37:g.27804477G>A	ENSP00000386190:p.Gly1680Ser						p.G1680S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5089	+	Acute lymphoblastic leukemia(172;0.155)		1680			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5038G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351775	0.01256	.	.	ENSG00000221843	ENST00000408964	T	0.04454	3.62	3.19	-4.08	0.03963	.	.	.	.	.	T	0.01029	0.0034	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	9	0.02654	T	1	.	2.0493	0.03567	0.4884:0.1249:0.2645:0.1222	.	1680	Q68DN1	CB016_HUMAN	S	1680	ENSP00000386190:G1680S	ENSP00000386190:G1680S	G	+	1	0	C2orf16	27657981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.202000	0.17295	-1.349000	0.02202	-5.380000	0.00001	GGT		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	1196	0	0	0	1	0	7	1196					A	27804477	G	A	27804477	3	1	65	1	0	0	0	0	1	0	0	0	2164	1116	39	1	5040	1	C2orf16	2	27804477	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1110923	27804477	215394896	22	7745											
NLRC4	58484	broad.mit.edu	37	chr2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-													cacctgtgtcttctgcagccTtttcccatgaagccatagct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1876-1878)agfs		NLR family, CARD domain containing 4							156	171	166					2																	32475056		2203	4300	6503	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475056delT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1877delA	2.37:g.32475056delT	ENSP00000385090:p.Lys626fs					NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs	p.K626fs			Q9NPP4	NLRC4_HUMAN			5	2365	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		626					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.1877delA	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		8	1204						8	1204	---	---	---	---	-	32475056	T	-	32475056	7	5	65	1	0	1	0	1	0	0	0	0	10511	1609	56	0	1221	0	NLRC4	2	32475056	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	4670579	32475056	210724317	23	7746											
ATL2	64225	broad.mit.edu	37	chr2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacatagcaaacatgaccGcaaacagtgtggctggggta	11	8	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	480					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAACATGACCGCAAACAGTGT	0.408																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1438-1440)gCg>gTg		atlastin GTPase 2							131	118	123					2																	38525479		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525479G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1439C>T	2.37:g.38525479G>A	ENSP00000368237:p.Ala480Val					ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V	p.A480V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1440	-			480					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1439C>T	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796474	0.50208	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.31065	0.9	0.80722	D	1	P;B;P;B;B	0.49635	0.926;0.397;0.531;0.183;0.216	B;B;B;B;B	0.31495	0.115;0.062;0.131;0.08;0.05	D	0.91673	0.5352	10	0.18710	T	0.47	-14.909	19.0794	0.93175	0.0:0.0:1.0:0.0	.	309;462;462;480;480	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	480;309;309;309;462;480;462;309	ENSP00000368237:A480V;ENSP00000385446:A309V;ENSP00000384062:A309V;ENSP00000446192:A309V;ENSP00000333393:A462V;ENSP00000415336:A480V;ENSP00000390743:A462V;ENSP00000438938:A309V	ENSP00000333393:A462V	A	-	2	0	ATL2	38378983	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.583000	0.74053	2.746000	0.94184	0.591000	0.81541	GCG		0.408	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		6	411	0	0	0	1	0	6	411					A	38525479	G	A	38525479	3	1	65	1	0	0	0	0	1	0	0	0	1108	1087	38	1	432	1	ATL2	2	38525479	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6050423	38525479	204673894	24	7747											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	517						7	517	---	---	---	---	-	39095413	CCA	-	39095411	7	5	65	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-HV-A7OL-01A-11D-A33T-08	569932	39095411	204103962	25	7748											
ZFP36L2	678	broad.mit.edu	37	chr2	43452623	43452623	+	Frame_Shift_Del	DEL	C	C	-													tgagcagggctgtgccgccgCcccccgacggctccttaagg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:43452623delC	ENST00000282388.3	-	2	613	c.320delG	c.(319-321)ggcfs	p.G109fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	109	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGTGCCGCCGCCCCCCGACGG	0.692																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(319-321)gcfs		ZFP36 ring finger protein-like 2							16	20	19					2																	43452623		2190	4297	6487	SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452623delC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.320delG	2.37:g.43452623delC	ENSP00000282388:p.Gly109fs					THADA_ENST00000330266.7_Intron	p.G109fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	613	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	109			Poly-Gly.		Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	37	c.320delG	CCDS1811.1																																																																																				0.692	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		20	117						20	117	---	---	---	---	-	43452623	C	-	43452623	7	5	65	1	0	1	0	1	0	0	0	0	17700	739	26	0	1168	0	ZFP36L2	2	43452623	Frame_Shift_Del	DEL	C	TCGA-HV-A7OL-01A-11D-A33T-08	4357212	43452623	199746750	26	7749											
PSME4	23198	broad.mit.edu	37	chr2	54120082	54120082	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggaaggcatcatcaaAattcctgaatataccctata	7	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:54120082A>T	ENST00000404125.1	-	36	4109	c.4054T>A	c.(4054-4056)Ttt>Att	p.F1352I	PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.F1238V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATCATCAAAATTCCTGAAT	0.363																																						ENST00000404125.1																			1	Substitution - Missense(1)	p.F1238V(1)	pancreas(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4054-4056)Ttt>Att		proteasome (prosome, macropain) activator subunit 4							69	70	69					2																	54120082		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54120082A>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4054T>A	2.37:g.54120082A>T	ENSP00000384211:p.Phe1352Ile					PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	p.F1352I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		36	4109	-			1352					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4054T>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417319	0.83449	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64438	-0.1;-0.1	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.72118	2.19	0.80722	D	1	D;D;P	0.59357	0.985;0.959;0.954	P;P;P	0.59357	0.856;0.647;0.721	T	0.70230	-0.4929	10	0.15952	T	0.53	.	15.6258	0.76855	1.0:0.0:0.0:0.0	.	727;496;1352	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	I	496;1352	ENSP00000410830:F496I;ENSP00000384211:F1352I	ENSP00000384211:F1352I	F	-	1	0	PSME4	53973586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.105000	0.64084	0.454000	0.30748	TTT		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		54	237	0	0	0	1	0	54	237					T	54120082	A	T	54120082	3	4	65	1	0	0	0	0	1	0	0	0	12756	14	1	5	1521	5	PSME4	2	54120082	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	10667459	54120082	189079291	27	7750											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55	55	55					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		7	329						7	329	---	---	---	---	-	55549818	T	-	55549818	7	5	65	1	0	1	0	1	0	0	0	0	2870	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	1429736	55549818	187649555	28	7751											
XPO1	7514	broad.mit.edu	37	chr2	61710179	61710181	+	In_Frame_Del	DEL	CTT	CTT	-													ataaaaactctgagctgcagCttcttcttgtgcaacatttt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:61710179_61710181delCTT	ENST00000401558.2	-	22	3450_3452	c.2723_2725delAAG	c.(2722-2727)gaagct>gct	p.E908del	XPO1_ENST00000406957.1_In_Frame_Del_p.E908del|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|XPO1_ENST00000404992.2_In_Frame_Del_p.E908del|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	908					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAGCTGCAGCTTCTTCTTGTGC	0.345			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"exportin 1 (CRM1 homolog, yeast)"			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2722-2727)gct>g		exportin 1 (CRM1 homolog, yeast)																																				SO:0001651	inframe_deletion	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61710179_61710181delCTT	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2723_2725delAAG	2.37:g.61710185_61710187delCTT	ENSP00000384863:p.Glu908del					XPO1_ENST00000406957.1_In_Frame_Del_p.EA908del|XPO1_ENST00000404992.2_In_Frame_Del_p.EA908del|RP11-355B11.2_ENST00000578974.2_RNA	p.EA908del	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		22	3450_3452	-			908					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	In_Frame_Del	DEL	ENST00000401558.2	37	c.2723_2725delAAG	CCDS33205.1																																																																																				0.345	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		8	400						8	400	---	---	---	---	-	61710181	CTT	-	61710179	7	5	65	1	0	1	0	1	0	0	0	0	17499	797	28	0	506	0	XPO1	2	61710179	In_Frame_Del	DEL	CTT	TCGA-HV-A7OL-01A-11D-A33T-08	6160361	61710179	181489194	29	7752											
GPAT2	150763	broad.mit.edu	37	chr2	96690307	96690307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagggccacgtgcgcccGcagcaggctcagtgagtgct	15	14	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96690307G>A	ENST00000434632.1	-	16	1996	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	513					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						ACGTGCGCCCGCAGCAGGCTC	0.642																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1537-1539)Cgg>Tgg		glycerol-3-phosphate acyltransferase 2, mitochondrial							45	52	50					2																	96690307		2091	4225	6316	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690307G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1537C>T	2.37:g.96690307G>A	ENSP00000389395:p.Arg513Trp					GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W	p.R513W			Q6NUI2	GPAT2_HUMAN			16	1996	-			513					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1537C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.588560	0.46110	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77877	-1.12;-1.12;-0.13;-1.13	4.63	3.66	0.41972	.	0.754991	0.12365	N	0.475318	T	0.81730	0.4884	L	0.43152	1.355	0.32553	N	0.532168	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;1.0	D;P;P;P;D	0.66084	0.913;0.809;0.847;0.721;0.941	T	0.81138	-0.1069	10	0.66056	D	0.02	-5.7184	9.2268	0.37412	0.0:0.0:0.6973:0.3027	.	442;513;519;513;442	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	W	513;513;442;513	ENSP00000352547:R513W;ENSP00000389395:R513W;ENSP00000393770:R442W;ENSP00000366341:R513W	ENSP00000352547:R513W	R	-	1	2	GPAT2	96054034	0.001000	0.12720	0.992000	0.48379	0.233000	0.25261	0.401000	0.20948	0.964000	0.38108	0.637000	0.83480	CGG		0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	439	0	0	0	1	0	5	439					A	96690307	G	A	96690307	3	1	65	1	0	0	0	0	1	0	0	0	6618	1086	38	1	882	1	GPAT2	2	96690307	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	34980128	96690307	146509066	30	7753											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:99226304G>A	ENST00000357765.2	+	2	234	c.82G>A	c.(82-84)Gga>Aga	p.G28R	UNC50_ENST00000409975.1_Missense_Mutation_p.G45R|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(133-135)Gga>Aga		unc-50 homolog (C. elegans)							168	168	168					2																	99226304		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226304G>A		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.82G>A	2.37:g.99226304G>A	ENSP00000350409:p.Gly28Arg					UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|UNC50_ENST00000357765.2_Missense_Mutation_p.G28R	p.G45R			Q53HI1	UNC50_HUMAN			1	1263	+			28					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.133G>A	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		8	932	0	0	0	1	0	8	932					A	99226304	G	A	99226304	3	1	65	1	0	0	0	0	1	0	0	0	17044	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2535997	99226304	143973069	31	7754											
RGPD3	653489	broad.mit.edu	37	chr2	107032411	107032411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttctgaaccaattcTtctttagtaaattcagcata	5	9	4	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:107032411T>G	ENST00000409886.3	-	21	5046	c.4959A>C	c.(4957-4959)gaA>gaC	p.E1653D	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1653					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACCAATTCTTCTTTAGTAA	0.378																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4957-4959)gaA>gaC		RANBP2-like and GRIP domain containing 3							101	77	85					2																	107032411		670	1543	2213	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107032411T>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4959A>C	2.37:g.107032411T>G	ENSP00000386588:p.Glu1653Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			21	5046	-			1653					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.4959A>C	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.697	0.129520	0.08981	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.47869	0.83;0.83	0.701	0.701	0.18104	.	.	.	.	.	T	0.35335	0.0928	N	0.08118	0	0.23016	N	0.998425	P	0.52463	0.953	P	0.53988	0.739	T	0.16276	-1.0408	9	0.62326	D	0.03	-0.566	5.6646	0.17689	0.0:0.0:0.0:1.0	.	1653	A6NKT7	RGPD3_HUMAN	D	27;1653;1020;1653	ENSP00000386588:E1653D;ENSP00000303659:E1653D	ENSP00000303659:E1653D	E	-	3	2	RGPD3	106398843	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	0.557000	0.23454	0.561000	0.29186	0.138000	0.15974	GAA		0.378	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		47	296	0	0	0	1	0	47	296					G	107032411	T	G	107032411	3	3	65	1	0	0	0	0	1	0	0	0	13337	1606	56	4	329	4	RGPD3	2	107032411	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	7806107	107032411	136166962	32	7755											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257073	114257073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgagggcggcggcccgagCgacccctcagagtttggcac	15	14	1	1	rs374836136		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(238-240)agC>agT		forkhead box D4-like 1		C		1,4309		0,1,2154	45	65	59		240	-1	0	2		59	4,8362		0,4,4179	no	coding-synonymous	FOXD4L1	NM_012184.4		0,5,6333	TT,TC,CC		0.0478,0.0232,0.0394		80/409	114257073	5,12671	2155	4183	6338	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257073C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.240C>T	2.37:g.114257073C>T							p.S80S	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	413	+			80					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.240C>T	CCDS2117.1																																																																																				0.697	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		6	433	0	0	0	1	0	6	433					T	114257073	C	T	114257073	2	4	65	1	0	0	0	0	0	0	0	1	6025	767	27	1		1	FOXD4L1	2	114257073	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7224662	114257073	128942300	33	7756											
NCKAP5	344148	broad.mit.edu	37	chr2	133541011	133541011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgttatggcttttggCgggtgatgaggatgatgagg	19	3	0	4	rs371372513		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:133541011C>T	ENST00000409261.1	-	14	3746	c.3373G>A	c.(3373-3375)Gcc>Acc	p.A1125T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.							p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1125S(1)	kidney(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3373-3375)Gcc>Acc		NCK-associated protein 5							157	164	162					2																	133541011		2094	4227	6321	SO:0001583	missense	344148						protein binding	g.chr2:133541011C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3373G>A	2.37:g.133541011C>T	ENSP00000387128:p.Ala1125Thr					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000409213.1_Intron	p.A1125T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3746	-			1125			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3373G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	1.009	-0.688367	0.03328	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09723	2.95;2.95	5.24	1.46	0.22682	.	0.992366	0.08158	N	0.988883	T	0.03915	0.0110	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	10	0.20046	T	0.44	.	1.7347	0.02939	0.5677:0.1727:0.095:0.1646	.	1125	O14513	NCKP5_HUMAN	T	1125	ENSP00000387128:A1125T;ENSP00000380603:A1125T	ENSP00000380603:A1125T	A	-	1	0	NCKAP5	133257481	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.091000	0.17302	-0.291000	0.09656	GCC		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	1036	0	0	0	1	0	7	1036					T	133541011	C	T	133541011	3	4	65	1	0	0	0	0	1	0	0	0	10265	768	27	1	2384	1	NCKAP5	2	133541011	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	19283938	133541011	109658362	34	7757											
GORASP2	26003	broad.mit.edu	37	chr2	171818252	171818252	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaatccagctactacAttaccaggtaaccaccaggg	7	13	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:171818252A>C	ENST00000234160.4	+	8	1718	c.903A>C	c.(901-903)acA>acC	p.T301T	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	301	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAGCTACTACATTACCAGGTA	0.393																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(901-903)acA>acC		golgi reassembly stacking protein 2, 55kDa							231	195	207					2																	171818252		2203	4300	6503	SO:0001819	synonymous_variant	26003					Golgi membrane		g.chr2:171818252A>C		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.903A>C	2.37:g.171818252A>C						GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T	p.T301T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			8	1718	+			301			Pro-rich.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Silent	SNP	ENST00000234160.4	37	c.903A>C	CCDS33325.1																																																																																				0.393	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			107	469	0	0	0	1	0	107	469					C	171818252	A	C	171818252	2	2	65	1	0	0	0	0	0	0	0	1	6605	204	8	4		4	GORASP2	2	171818252	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	38277241	171818252	71381121	35	7758											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	586						11	586	---	---	---	---	T	201437004	-	T	201437003	7	5	65	1	0	1	1	0	0	0	0	0	14267	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	29618751	201437003	41762370	36	7759											
SPHKAP	80309	broad.mit.edu	37	chr2	228855826	228855826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcatctggacactctgGctccaggtcaaagttgatca	10	12	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:228855826G>T	ENST00000392056.3	-	11	4895	c.4849C>A	c.(4849-4851)Cca>Aca	p.P1617T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1617						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGACACTCTGGCTCCAGGTCA	0.557																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4849-4851)Cca>Aca		SPHK1 interactor, AKAP domain containing							47	49	48					2																	228855826		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228855826G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4849C>A	2.37:g.228855826G>T	ENSP00000375909:p.Pro1617Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	p.P1617T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	11	4895	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1617					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4849C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053706	0.75960	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05996	3.36;3.36	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.167578	0.52532	D	0.000066	T	0.24353	0.0590	M	0.78049	2.395	0.48341	D	0.999631	D;D	0.76494	0.999;0.999	D;D	0.74674	0.961;0.984	T	0.00043	-1.2223	10	0.44086	T	0.13	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	1617;1588	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1617;1588	ENSP00000375909:P1617T;ENSP00000339886:P1588T	ENSP00000339886:P1588T	P	-	1	0	SPHKAP	228564070	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.992000	0.63889	2.941000	0.99782	0.655000	0.94253	CCA		0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		66	260	1	0	7.82978e-24	1	8.59197e-24	66	260					T	228855826	G	T	228855826	3	4	65	1	0	0	0	0	1	0	0	0	15100	1203	42	3	261	3	SPHKAP	2	228855826	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	27418823	228855826	14343547	37	7760											
TMEM40	55287	broad.mit.edu	37	chr3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-													atgaggaggatgaggaggaaGaggaggaggaggaagaagac							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435575.1_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435575.1_Intron	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	968						8	968	---	---	---	---	-	12790200	GAG	-	12790198	7	5	65	1	0	1	0	1	0	0	0	0	16215	942	33	0	574	0	TMEM40	3	12790198	In_Frame_Del	DEL	GAG	TCGA-HV-A7OL-01A-11D-A33T-08		12790198	185232232	38	7761											
TGM4	7047	broad.mit.edu	37	chr3	44935102	44935102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctgatgaggacgagcGcaaagagtacatcctcaatg	11	10	1	3	rs147559877		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:44935102G>A	ENST00000296125.4	+	5	532	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	155					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGGACGAGCGCAAAGAGTAC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.0					ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(463-465)cGc>cAc		transglutaminase 4	L-Glutamine(DB00130)	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	129	115	120		464	-1.3	0	3	dbSNP_134	120	0,8600		0,0,4300	no	missense	TGM4	NM_003241.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	155/685	44935102	2,13004	2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44935102G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.464G>A	3.37:g.44935102G>A	ENSP00000296125:p.Arg155His						p.R155H	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	5	532	+			155					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.464G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455059	0.43634	4.54E-4	0.0	ENSG00000163810	ENST00000296125	D	0.92099	-2.97	2.32	-1.33	0.09172	.	0.000000	0.40818	U	0.001008	D	0.95056	0.8399	M	0.90870	3.155	0.09310	N	0.999991	D	0.89917	1.0	D	0.79784	0.993	D	0.88191	0.2877	10	0.66056	D	0.02	.	4.1154	0.10079	0.3177:0.0:0.5237:0.1586	.	155	P49221	TGM4_HUMAN	H	155	ENSP00000296125:R155H	ENSP00000296125:R155H	R	+	2	0	TGM4	44910106	0.694000	0.27738	0.000000	0.03702	0.008000	0.06430	1.522000	0.35921	-0.584000	0.05913	-0.518000	0.04402	CGC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		5	376	0	0	0	1	0	5	376					A	44935102	G	A	44935102	3	1	65	1	0	0	0	0	1	0	0	0	15884	1087	38	1	482	1	TGM4	3	44935102	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	32144904	44935102	153087328	39	7762											
CDCP1	64866	broad.mit.edu	37	chr3	45153640	45153640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtggaaccatgggaggTgtaaggccattttcactcct	14	8	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:45153640T>C	ENST00000296129.1	-	3	724	c.590A>G	c.(589-591)cAc>cGc	p.H197R	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	197						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCATGGGAGGTGTAAGGCCAT	0.522																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(589-591)cAc>cGc		CUB domain containing protein 1							166	158	161					3																	45153640		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153640T>C	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.590A>G	3.37:g.45153640T>C	ENSP00000296129:p.His197Arg					CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	724	-			197					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.590A>G	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419653	0.42918	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.41065	1.92;1.01	5.42	4.25	0.50352	.	0.712205	0.14693	N	0.304050	T	0.41050	0.1142	L	0.54323	1.7	0.27687	N	0.946243	B;B	0.30439	0.279;0.279	B;B	0.31101	0.124;0.124	T	0.34950	-0.9808	10	0.59425	D	0.04	.	12.6997	0.57024	0.0:0.0:0.1375:0.8625	.	197;197	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	R	197	ENSP00000296129:H197R;ENSP00000399342:H197R	ENSP00000296129:H197R	H	-	2	0	CDCP1	45128644	0.981000	0.34729	0.994000	0.49952	0.773000	0.43773	2.658000	0.46733	0.872000	0.35775	0.460000	0.39030	CAC		0.522	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		7	492	0	0	0	1	0	7	492					C	45153640	T	C	45153640	3	2	65	1	0	0	0	0	1	0	0	0	3102	1696	59	4	1956	4	CDCP1	3	45153640	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	218538	45153640	152868790	40	7763											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	245						7	245	---	---	---	---	-	51430824	CCA	-	51430822	7	5	65	1	0	1	0	1	0	0	0	0	13167	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-HV-A7OL-01A-11D-A33T-08	6277182	51430822	146591608	41	7764											
TLR9	54106	broad.mit.edu	37	chr3	52257640	52257640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgccagtttgacgatgCggttgtaggacaacagcaga	14	9	0	2	rs147300053		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52257640C>T	ENST00000360658.2	-	2	1325	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TLR9_ENST00000597542.1_Missense_Mutation_p.R255H|TLR9_ENST00000494383.1_Silent_p.P384P	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	231					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTTGACGATGCGGTTGTAGGA	0.617																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(763-765)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)	C	HIS/ARG	0,4406		0,0,2203	40	30	33		692	-8.8	0.2	3	dbSNP_134	33	3,8597	2.2+/-6.3	0,3,4297	no	missense	TLR9	NM_017442.3	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	231/1033	52257640	3,13003	2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257640C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.692G>A	3.37:g.52257640C>T	ENSP00000353874:p.Arg231His					TLR9_ENST00000494383.1_Silent_p.P384P|TLR9_ENST00000360658.2_Missense_Mutation_p.R231H	p.R255H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1721	-			231					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.764G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907217	0.17833	0.0	3.49E-4	ENSG00000239732	ENST00000360658	T	0.58210	0.35	5.38	-8.75	0.00834	.	0.955010	0.08543	N	0.930202	T	0.34337	0.0894	L	0.35288	1.05	0.09310	N	0.999997	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.25106	T	0.35	.	12.031	0.53397	0.1005:0.6148:0.0:0.2847	.	328;231	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	231	ENSP00000353874:R231H	ENSP00000353874:R231H	R	-	2	0	TLR9	52232680	0.003000	0.15002	0.245000	0.24217	0.163000	0.22366	-0.725000	0.04942	-1.469000	0.01890	-0.982000	0.02568	CGC		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	187	0	0	0	1	0	4	187					T	52257640	C	T	52257640	3	4	65	1	0	0	0	0	1	0	0	0	16010	768	27	1	2410	1	TLR9	3	52257640	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	826818	52257640	145764790	42	7765											
STAB1	23166	broad.mit.edu	37	chr3	52551596	52551596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgtgagggttacagcGgggatggcatccggacctgc	17	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52551596G>A	ENST00000321725.6	+	44	4670	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1532	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGTTACAGCGGGGATGGCAT	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4594-4596)Ggg>Agg		stabilin 1							49	51	50					3																	52551596		2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551596G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4594G>A	3.37:g.52551596G>A	ENSP00000312946:p.Gly1532Arg						p.G1532R	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	44	4670	+			1532			EGF-like 12.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4594G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965659	0.74131	.	.	ENSG00000010327	ENST00000321725	D	0.93953	-3.32	4.81	4.81	0.61882	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.485095	0.20593	N	0.089304	D	0.96445	0.8840	M	0.81942	2.565	0.46336	D	0.998995	D	0.89917	1.0	D	0.72982	0.979	D	0.96640	0.9473	10	0.62326	D	0.03	.	14.9699	0.71226	0.0:0.0:1.0:0.0	.	1532	Q9NY15	STAB1_HUMAN	R	1532	ENSP00000312946:G1532R	ENSP00000312946:G1532R	G	+	1	0	STAB1	52526636	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	3.707000	0.54838	2.380000	0.81148	0.655000	0.94253	GGG		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		59	270	0	0	0	1	0	59	270					A	52551596	G	A	52551596	3	1	65	1	0	0	0	0	1	0	0	0	15289	1116	39	1	4768	1	STAB1	3	52551596	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	293956	52551596	145470834	43	7766											
VGLL3	389136	broad.mit.edu	37	chr3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcaggaatcctggccGcatgcactgaaggcatcagc	15	11	1	1	rs368641887	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCCTGGCCGCATGCACTGA	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0031					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(805-807)gCg>gTg		vestigial like 3 (Drosophila)		G	VAL/ALA	0,4276		0,0,2138	69	70	70		806	5.7	0.5	3		70	1,8499		0,1,4249	no	missense	VGLL3	NM_016206.2	64	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	269/327	87017871	1,12775	2138	4250	6388	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017871G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.806C>T	3.37:g.87017871G>A	ENSP00000381436:p.Ala269Val					VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	p.A269V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1169	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	269						Missense_Mutation	SNP	ENST00000398399.2	37	c.806C>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945134	0.73672	0.0	1.18E-4	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52754	0.82;0.65	5.71	5.71	0.89125	.	0.486738	0.20579	N	0.089580	T	0.44953	0.1318	L	0.54323	1.7	0.47949	D	0.99955	P	0.45428	0.858	B	0.35655	0.207	T	0.48917	-0.8992	10	0.45353	T	0.12	-0.046	19.446	0.94847	0.0:0.0:1.0:0.0	.	269	A8MV65	VGLL3_HUMAN	V	269	ENSP00000381436:A269V;ENSP00000373199:A269V	ENSP00000373199:A269V	A	-	2	0	VGLL3	87100561	0.956000	0.32656	0.475000	0.27278	0.820000	0.46376	6.223000	0.72257	2.709000	0.92574	0.561000	0.74099	GCG		0.572	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		4	214	0	0	0	1	0	4	214					A	87017871	G	A	87017871	3	1	65	1	0	0	0	0	1	0	0	0	17214	1087	38	1	182	1	VGLL3	3	87017871	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	34466275	87017871	111004559	44	7767											
CEP97	79598	broad.mit.edu	37	chr3	101446386	101446386	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaaataatcttaagGtgaatggtttcttttttgtt	10	3	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:101446386G>A	ENST00000341893.3	+	3	1097		c.e3+1		CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa						cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAATCTTAAGGTGAATGGTTT	0.343																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.e3+1		centrosomal protein 97kDa							125	127	126					3																	101446386		2203	4300	6503	SO:0001630	splice_region_variant	79598					centrosome|nucleus	protein binding	g.chr3:101446386G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.345+1G>A	3.37:g.101446386G>A						CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site				Q8IW35	CEP97_HUMAN			3	1097	+								B5MDY8|Q8NA71|Q9H5T9	Splice_Site	SNP	ENST00000341893.3	37		CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419147	0.83559	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP97	102929076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	2.658000	0.90341	0.655000	0.94253	.		0.343	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	Intron	75	372	0	0	0	1	0	75	372					A	101446386	G	A	101446386	5	1	65	1	0	0	0	0	0	0	1	0	3272	1275	44	2	356	2	CEP97	3	101446386	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	14428515	101446386	96576044	45	7768											
CPNE4	131034	broad.mit.edu	37	chr3	131442441	131442441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtacactgggtttatgCaggtgcgaatcacctcagtc	11	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:131442441C>T	ENST00000512055.1	-	7	2335	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y			Q96A23	CPNE4_HUMAN	copine IV	70	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGGTTTATGCAGGTGCGAAT	0.418																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(208-210)tGc>tAc		copine IV							111	111	111					3																	131442441		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131442441C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.209G>A	3.37:g.131442441C>T	ENSP00000421705:p.Cys70Tyr					CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y	p.C70Y			Q96A23	CPNE4_HUMAN			7	2335	-			70			C2 1.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.209G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404858	0.62288	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.120680	0.85682	D	0.000000	T	0.58524	0.2128	M	0.77616	2.38	0.49299	D	0.999775	B;B	0.30482	0.147;0.281	B;B	0.42495	0.221;0.389	T	0.61973	-0.6952	10	0.72032	D	0.01	-7.8453	19.1819	0.93627	0.0:1.0:0.0:0.0	.	88;70	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Y	70;70;88;70;88;70;70;70	ENSP00000421705:C70Y;ENSP00000411904:C70Y;ENSP00000424853:C88Y;ENSP00000423811:C70Y;ENSP00000421646:C88Y;ENSP00000425506:C70Y;ENSP00000427561:C70Y;ENSP00000421394:C70Y	ENSP00000411904:C70Y	C	-	2	0	CPNE4	132925131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.542000	0.85734	0.555000	0.69702	TGC		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		6	724	0	0	0	1	0	6	724					T	131442441	C	T	131442441	3	4	65	1	0	0	0	0	1	0	0	0	3823	710	25	2	1520	2	CPNE4	3	131442441	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	29996055	131442441	66579989	46	7769											
GPR149	344758	broad.mit.edu	37	chr3	154056055	154056055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggcaagggcataaccGgaacgctggggacaaaaaca	14	8	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:154056055G>A	ENST00000389740.2	-	4	1728	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	543					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGGCATAACCGGAACGCTGGG	0.423																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1627-1629)tcC>tcT		G protein-coupled receptor 149							80	81	81					3																	154056055		1879	4100	5979	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056055G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1629C>T	3.37:g.154056055G>A							p.S543S	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1728	-			543						Silent	SNP	ENST00000389740.2	37	c.1629C>T	CCDS43162.1																																																																																				0.423	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		5	585	0	0	0	1	0	5	585					A	154056055	G	A	154056055	2	1	65	1	0	0	0	0	0	0	0	1	6683	1103	39	1		1	GPR149	3	154056055	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	22613614	154056055	43966375	47	7770											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				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)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	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.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		10	768						10	768	---	---	---	---	A	185212518	-	A	185212517	7	5	65	1	0	1	1	0	0	0	0	0	16216	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	31156462	185212517	12809913	48	7771											
ST6GAL1	6480	broad.mit.edu	37	chr3	186769122	186769122	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaaaaactaccattcgcctGatgaactctcaggtaaaatt	5	10	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:186769122G>C	ENST00000169298.3	+	5	1367	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	231					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATTCGCCTGATGAACTCTC	0.453																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(691-693)ctG>ctC		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							107	95	99					3																	186769122		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186769122G>C	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.693G>C	3.37:g.186769122G>C						ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	5	1367	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		231					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.693G>C	CCDS3285.1																																																																																				0.453	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		26	267	0	0	0	1	0	26	267					C	186769122	G	C	186769122	2	2	65	1	0	0	0	0	0	0	0	1	15273	1277	45	5		5	ST6GAL1	3	186769122	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1556605	186769122	11253308	49	7772											
FGFRL1	53834	broad.mit.edu	37	chr4	1019074	1019074	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacacacacacacacActctcacacacactcacacg	1	21	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1019074A>T	ENST00000398484.2	+	8	2034	c.1454A>T	c.(1453-1455)cAc>cTc	p.H485L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	485	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacacactctcacaca	0.607																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1453-1455)cAc>cTc		fibroblast growth factor receptor-like 1							12	15	14					4																	1019074		2176	4280	6456	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019074A>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1454A>T	4.37:g.1019074A>T	ENSP00000381498:p.His485Leu					FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L	p.H485L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2034	+			485			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1454A>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363242	0.11296	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	1.69	1.69	0.24217	.	0.000000	0.36002	N	0.002841	T	0.64249	0.2581	N	0.14661	0.345	0.23293	N	0.997964	D	0.71674	0.998	D	0.73708	0.981	T	0.59958	-0.7356	10	0.02654	T	1	.	5.4666	0.16646	1.0:0.0:0.0:0.0	.	485	Q8N441	FGRL1_HUMAN	L	485	ENSP00000381498:H485L;ENSP00000425025:H485L;ENSP00000423091:H485L;ENSP00000264748:H485L	ENSP00000264748:H485L	H	+	2	0	FGFRL1	1009074	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	6.796000	0.75145	1.039000	0.40074	0.533000	0.62120	CAC		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		5	142	0	0	0	1	0	5	142					T	1019074	A	T	1019074	3	4	65	1	0	0	0	0	1	0	0	0	5894	159	6	5	1476	5	FGFRL1	4	1019074	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08		1019074	190135202	50	7773											
CRIPAK	285464	broad.mit.edu	37	chr4	1388722	1388722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcctgctcacacgtgCccatgcggagtgcccgcctg	12	18	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1388722C>T	ENST00000324803.4	+	1	3383	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	141					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCCATGCGGAG	0.697																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(421-423)tgC>tgT		cysteine-rich PAK1 inhibitor							37	35	36					4																	1388722		1907	3673	5580	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388722C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.423C>T	4.37:g.1388722C>T							p.C141C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3383	+			141					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.423C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.335	0.247132	0.10130	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-0.286	0.12862	.	.	.	.	.	T	0.28532	0.0706	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29971	-0.9994	5	0.54805	T	0.06	.	2.9357	0.05814	0.3054:0.3898:0.3048:0.0	.	.	.	.	S	125	.	ENSP00000372402:P125S	P	+	1	0	CRIPAK	1378722	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.190000	0.03058	-0.076000	0.12775	0.121000	0.15741	CCC		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		13	2531	0	0	0	1	0	13	2531					T	1388722	C	T	1388722	2	4	65	1	0	0	0	0	0	0	0	1	3886	747	26	2		2	CRIPAK	4	1388722	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	369648	1388722	189765554	51	7774											
WHSC2	7469	broad.mit.edu	37	chr4	1993351	1993351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaagcgagcctgtgtccGgaaaggacttcaagatgtcg	14	8	1	1	rs376419751		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1993351G>A	ENST00000411638.2	-	2	317	c.302C>T	c.(301-303)cCg>cTg	p.P101L	NELFA_ENST00000382882.3_Missense_Mutation_p.P112L|NELFA_ENST00000542778.1_Intron	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	101					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCTGTGTCCGGAAAGGACTT	0.522																																						ENST00000382882.3																			0											c.(334-336)cCg>cTg		negative elongation factor complex member A		G	LEU/PRO	0,4406		0,0,2203	115	124	121		335	4.4	0.9	4		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	WHSC2	NM_005663.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	112/540	1993351	1,13005	2203	4300	6503	SO:0001583	missense	7469							g.chr4:1993351G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.302C>T	4.37:g.1993351G>A	ENSP00000399165:p.Pro101Leu					NELFA_ENST00000411638.1_Missense_Mutation_p.P101L|NELFA_ENST00000542778.1_Intron	p.P112L	NM_005663.4	NP_005654.3					2	1452	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707264|3.707264	0.68615|0.68615	0.0|0.0	1.16E-4|1.16E-4	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000411649	T;T;T;T|.	0.69926|.	1.63;-0.44;1.63;1.63|.	5.29|5.29	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	B|.	0.39027|.	0.288|.	T|T	0.76806|0.76806	-0.2823|-0.2823	10|5	0.41790|.	T|.	0.15|.	-16.7598|-16.7598	13.9996|13.9996	0.64424|0.64424	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	101|.	Q9H3P2|.	NELFA_HUMAN|.	L|W	112;105;101;117;31|85	ENSP00000372335:P112L;ENSP00000387647:P105L;ENSP00000399165:P101L;ENSP00000395761:P117L|.	ENSP00000372335:P112L|.	P|R	-|-	2|1	0|2	WHSC2|WHSC2	1963149|1963149	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.096000|0.096000	0.18686|0.18686	9.651000|9.651000	0.98493|0.98493	1.233000|1.233000	0.43693|0.43693	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.522	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		9	1134	0	0	0	1	0	9	1134					A	1993351	G	A	1993351	3	1	65	1	0	0	0	0	1	0	0	0	17418	1116	39	1	1324	1	WHSC2	4	1993351	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	604629	1993351	189160925	52	7775											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-													ctcacgtgtggtatcatggaCccccccgtcactgatgacat							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gacfs	p.D228fs	FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gafs		family with sequence similarity 193, member A							199	170	180					4																	2661593		2203	4300	6503	SO:0001589	frameshift_variant	8603							g.chr4:2661593delC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.684delC	4.37:g.2661593delC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs	p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.684delC	CCDS58875.1																																																																																				0.522	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		7	541						7	541	---	---	---	---	-	2661593	C	-	2661593	7	5	65	1	0	1	0	1	0	0	0	0	5545	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-HV-A7OL-01A-11D-A33T-08	668242	2661593	188492683	53	7776											
BOD1L	259282	broad.mit.edu	37	chr4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgcttctatgatcgGcatgcttttcagaattacta	8	8	3	2	rs543366380	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5																			0											c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158	165	163					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val						p.A1197V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	969	0	0	0	1	0	7	969					A	13604934	G	A	13604934	3	1	65	1	0	0	0	0	1	0	0	0	1485	1203	42	2	5633	2	BOD1L	4	13604934	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	10943341	13604934	177549342	54	7777											
SLC34A2	10568	broad.mit.edu	37	chr4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-													caccggctgcttccagatgcGctgctgctgctgctgccgcg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.64	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	313						8	313	---	---	---	---	-	25678150	GCT	-	25678148	7	5	65	1	0	1	0	1	0	0	0	0	14618	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCT	TCGA-HV-A7OL-01A-11D-A33T-08	12073214	25678148	165476128	55	7778											
MUC7	4589	broad.mit.edu	37	chr4	71347018	71347018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatcttcctcagctccacCagagaccacagctgccccac	5	20	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71347018C>A	ENST00000304887.5	+	3	747	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	MUC7_ENST00000456088.1_Missense_Mutation_p.P186Q|MUC7_ENST00000413702.1_Missense_Mutation_p.P186Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	186	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.582																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(556-558)cCa>cAa		mucin 7, secreted							327	265	286					4																	71347018		2203	4298	6501	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347018C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.557C>A	4.37:g.71347018C>A	ENSP00000302021:p.Pro186Gln					MUC7_ENST00000456088.1_Missense_Mutation_p.P186Q|MUC7_ENST00000304887.5_Missense_Mutation_p.P186Q	p.P186Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	845	+			186			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.557C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.509	0.462148	0.12342	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.50548	0.74;0.74;0.74	1.37	-1.58	0.08479	.	.	.	.	.	T	0.42921	0.1224	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.34976	-0.9807	8	.	.	.	.	6.2803	0.21003	0.0:0.5482:0.0:0.4518	.	186	Q8TAX7	MUC7_HUMAN	Q	186	ENSP00000407422:P186Q;ENSP00000400585:P186Q;ENSP00000302021:P186Q	.	P	+	2	0	MUC7	71381607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.705000	0.00821	-0.652000	0.05408	-0.136000	0.14681	CCA		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	837	1	0	8.12818e-05	1	8.32971e-05	6	837					A	71347018	C	A	71347018	3	1	65	1	0	0	0	0	1	0	0	0	10022	594	21	3	563	3	MUC7	4	71347018	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	45668870	71347018	119807258	56	7779											
ENAM	10117	broad.mit.edu	37	chr4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggaacgtaaacaagtagctCgtccaggaaatccagtttat	10	8	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1117-1119)Cgt>Agt		enamelin							109	114	112					4																	71508260		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508260C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1117C>A	4.37:g.71508260C>A	ENSP00000379383:p.Arg373Ser					ENAM_ENST00000472903.1_Intron	p.R373S	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1398	+			373					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1117C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996778	0.19043	.	.	ENSG00000132464	ENST00000396073	T	0.31510	1.49	5.93	1.05	0.20165	.	0.946121	0.08814	N	0.889824	T	0.37489	0.1005	M	0.69358	2.11	0.09310	N	1	P	0.43024	0.798	P	0.48488	0.579	T	0.24083	-1.0170	10	0.48119	T	0.1	0.5722	4.3221	0.11022	0.4017:0.3948:0.1299:0.0735	.	373	Q9NRM1	ENAM_HUMAN	S	373	ENSP00000379383:R373S	ENSP00000379383:R373S	R	+	1	0	ENAM	71727124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.768000	0.26590	-0.116000	0.11893	-0.182000	0.12963	CGT		0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		167	632	1	0	7.07589e-82	1	7.83402e-82	167	632					A	71508260	C	A	71508260	3	1	65	1	0	0	0	0	1	0	0	0	5130	884	31	3	1147	3	ENAM	4	71508260	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	161242	71508260	119646016	57	7780											
WDFY3	23001	broad.mit.edu	37	chr4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaagaatttgctcggcGcacaacagtaagaagtctga	10	9	2	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3379-3381)Cgc>Tgc		WD repeat and FYVE domain containing 3							131	132	132					4																	85715780		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715780G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C	p.R1127C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3786	-		Hepatocellular(203;0.114)	1127					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3379C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	WDFY3	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	641	0	0	0	1	0	6	641					A	85715780	G	A	85715780	3	1	65	1	0	0	0	0	1	0	0	0	17324	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	14207520	85715780	105438496	58	7781											
SLC12A7	10723	broad.mit.edu	37	chr5	1081769	1081769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacgtagggcagtgcgCtggcacggctctcctctgcc	14	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:1081769C>T	ENST00000264930.5	-	9	1263	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	407					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGGCAGTGCGCTGGCACGGCT	0.657																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1219-1221)aGc>aAc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						99	87	91					5																	1081769		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081769C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1220G>A	5.37:g.1081769C>T	ENSP00000264930:p.Ser407Asn						p.S407N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1263	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		407					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1220G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107775	0.08780	.	.	ENSG00000113504	ENST00000264930	D	0.84442	-1.85	4.09	1.77	0.24775	.	1.016290	0.07831	N	0.961315	T	0.77765	0.4179	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58713	-0.7588	10	0.15066	T	0.55	.	8.0261	0.30438	0.0:0.5903:0.3043:0.1054	.	407	Q9Y666	S12A7_HUMAN	N	407	ENSP00000264930:S407N	ENSP00000264930:S407N	S	-	2	0	SLC12A7	1134769	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.155000	0.16362	0.686000	0.31488	0.491000	0.48974	AGC		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	412	0	0	0	1	0	5	412					T	1081769	C	T	1081769	3	4	65	1	0	0	0	0	1	0	0	0	14438	797	28	2	2095	2	SLC12A7	5	1081769	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		1081769	179833491	59	7782											
ERBB2IP	55914	broad.mit.edu	37	chr5	65288599	65288599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaccatgtcgctgtctacGaggggaagaggagactgtca	15	8	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:65288599G>A	ENST00000284037.5	+	3	442	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	18					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)			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)		CGCTGTCTACGAGGGGAAGAG	0.363																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(52-54)cGa>cAa		erbb2 interacting protein							135	134	134					5																	65288599		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.chr5:65288599G>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.53G>A	5.37:g.65288599G>A	ENSP00000284037:p.Arg18Gln					ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q	p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	3	442	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	18					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.53G>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516152	0.96402	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40476	1.23;1.23;1.39;1.23;1.42;1.03;1.3;1.22;1.26;1.03	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.85130	0.922;0.997;0.934;0.996;0.99;0.992;0.983;0.994	T	0.64437	-0.6408	10	0.66056	D	0.02	.	18.6235	0.91330	0.0:0.0:1.0:0.0	.	18;18;18;18;18;18;18;18	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	18	ENSP00000284037:R18Q;ENSP00000370330:R18Q;ENSP00000397833:R18Q;ENSP00000370326:R18Q;ENSP00000370323:R18Q;ENSP00000370322:R18Q;ENSP00000370325:R18Q;ENSP00000422766:R18Q;ENSP00000426632:R18Q;ENSP00000422015:R18Q	ENSP00000284037:R18Q	R	+	2	0	ERBB2IP	65324355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.388000	0.81334	0.655000	0.94253	CGA		0.363	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		87	403	0	0	0	1	0	87	403					A	65288599	G	A	65288599	3	1	65	1	0	0	0	0	1	0	0	0	5225	1058	37	1	55	1	ERBB2IP	5	65288599	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	64206830	65288599	115626661	60	7783											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	1095						9	1095	---	---	---	---	-	124079815	CTC	-	124079813	7	5	65	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-HV-A7OL-01A-11D-A33T-08	58791214	124079813	56835447	61	7784											
PCDHA9	9752	broad.mit.edu	37	chr5	140230590	140230590	+	Intron	DEL	T	T	-													ttttctagaaatccagcagaTtttttttctgataaagtaaa					rs17844337		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ATCCAGCAGATTTTTTTTCTG	0.279																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(2509-2511)atfs									66	77	74					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	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.2394+116T>-	5.37:g.140230590delT						PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	1181						7	1181	---	---	---	---	-	140230590	T	-	140230590	6	5	65	0	1	1	0	1	0	0	0	0	11573	1493	52	0		0	PCDHA9	5	140230590	Intron	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	16150777	140230590	40684670	62	7785											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755802	140755802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcgctcagactgcagCgctggcacaagtcacgcctg	13	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140755802C>T	ENST00000517434.1	+	1	2152	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACTGCAGCGCTGGCACAA	0.647																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2152-2154)Cgc>Tgc									85	94	91					5																	140755802		2203	4300	6503	SO:0001583	missense	0							g.chr5:140755802C>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.2152C>T	5.37:g.140755802C>T	ENSP00000429601:p.Arg718Cys					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.R718C	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2152	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2152C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632413	0.29068	.	.	ENSG00000253731	ENST00000517434	T	0.23147	1.92	5.15	3.22	0.36961	.	2.171190	0.04336	U	0.353247	T	0.40448	0.1117	M	0.86651	2.83	0.28148	N	0.929514	B;B	0.32010	0.351;0.047	B;B	0.29176	0.099;0.066	T	0.49679	-0.8914	10	0.72032	D	0.01	.	12.5336	0.56131	0.3755:0.6245:0.0:0.0	.	718;718	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	C	718	ENSP00000429601:R718C	ENSP00000429601:R718C	R	+	1	0	PCDHGA6	140735986	0.000000	0.05858	0.961000	0.40146	0.199000	0.23934	0.469000	0.22067	1.511000	0.48818	0.655000	0.94253	CGC		0.647	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		137	553	0	0	0	1	0	137	553					T	140755802	C	T	140755802	3	4	65	1	0	0	0	0	1	0	0	0	11600	768	27	1	2154	1	PCDHGA6	5	140755802	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	525212	140755802	40159458	63	7786											
SYNPO	11346	broad.mit.edu	37	chr5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagagctgcctcgcccGccaagcccagctccttggac	9	19	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2503-2505)Gcc>Acc		synaptopodin							57	65	62					5																	150029608		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029608G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2503G>A	5.37:g.150029608G>A	ENSP00000377789:p.Ala835Thr					SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T	p.A835T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2877	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	835			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2503G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372055	0.42003	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24723	1.84;1.84;1.85	5.3	4.37	0.52481	.	0.271361	0.26450	N	0.024306	T	0.33265	0.0857	L	0.51422	1.61	0.29821	N	0.830848	D;D	0.65815	0.994;0.995	P;P	0.56278	0.795;0.748	T	0.09707	-1.0662	10	0.28530	T	0.3	-21.581	8.7709	0.34731	0.0:0.2979:0.5656:0.1365	.	591;835	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	T	835;835;591;591	ENSP00000377789:A835T;ENSP00000428378:A835T;ENSP00000429268:A591T	ENSP00000302139:A591T	A	+	1	0	SYNPO	150009801	0.986000	0.35501	0.939000	0.37840	0.469000	0.32828	0.835000	0.27531	2.480000	0.83734	0.462000	0.41574	GCC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	694	0	0	0	1	0	6	694					A	150029608	G	A	150029608	3	1	65	1	0	0	0	0	1	0	0	0	15508	1087	38	1	2509	1	SYNPO	5	150029608	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	9273806	150029608	30885652	64	7787											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		10	424						10	424	---	---	---	---	A	162917426	-	A	162917425	7	5	65	1	0	1	1	0	0	0	0	0	7272	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	12887817	162917425	17997835	65	7788											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	17	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105	102	103					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	8	555	0	0	0	1	0	8	555					A	179044053	G	A	179044053	5	1	65	1	0	0	0	0	0	0	1	0	7296	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	16126628	179044053	1871207	66	7789											
CNOT6	57472	broad.mit.edu	37	chr5	179992902	179992902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctactgtccatcatgggcGctaaactgggactacaggaa	12	10	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179992902G>A	ENST00000393356.1	+	9	1066	c.642G>A	c.(640-642)gcG>gcA	p.A214A	CNOT6_ENST00000261951.4_Silent_p.A214A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	214	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CATCATGGGCGCTAAACTGGG	0.418																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(640-642)gcG>gcA		CCR4-NOT transcription complex, subunit 6							116	108	111					5																	179992902		2203	4300	6503	SO:0001819	synonymous_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179992902G>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.642G>A	5.37:g.179992902G>A						CNOT6_ENST00000261951.4_Silent_p.A214A	p.A214A			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	9	1066	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	214					A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	c.642G>A	CCDS4455.1																																																																																				0.418	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		5	462	0	0	0	1	0	5	462					A	179992902	G	A	179992902	2	1	65	1	0	0	0	0	0	0	0	1	3631	1074	38	1		1	CNOT6	5	179992902	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	948849	179992902	922358	67	7790											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtacctagaagagaggCgggtcaaagaagtagtgaag	15	5	1	5			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAGAGAGGCGGGTCAAAGA	0.433																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(589-591)Cgg>Tgg		heat shock protein 90kDa alpha (cytosolic), class B member 1							101	105	104					6																	44217832		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217832C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.589C>T	6.37:g.44217832C>T	ENSP00000360609:p.Arg197Trp					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W	p.R197W			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	803	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		197					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.589C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774006	0.69992	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	2.63	0.31362	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000002	T	0.08088	0.0202	N	0.11255	0.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.988;0.991	T	0.22487	-1.0215	10	0.87932	D	0	-12.2293	6.6825	0.23127	0.1472:0.6922:0.0:0.1606	.	159;187;197	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	W	149;197;197;197	ENSP00000360709:R197W;ENSP00000325875:R197W;ENSP00000360609:R197W	ENSP00000325875:R197W	R	+	1	2	HSP90AB1	44325810	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.169000	0.31871	0.305000	0.22832	0.557000	0.71058	CGG		0.433	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		6	425	0	0	0	1	0	6	425					T	44217832	C	T	44217832	3	4	65	1	0	0	0	0	1	0	0	0	7432	759	27	1	603	1	HSP90AB1	6	44217832	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		44217832	126897235	68	7791											
FAM135A	57579	broad.mit.edu	37	chr6	71232278	71232278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagctgccattgcataCcaggaacttcagtgagtagt	11	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:71232278C>T	ENST00000418814.2	+	13	1706	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	FAM135A_ENST00000457062.2_Silent_p.Y347Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	364										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCATTGCATACCAGGAACTTC	0.333																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1090-1092)taC>taT		family with sequence similarity 135, member A							110	117	115					6																	71232278		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71232278C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1092C>T	6.37:g.71232278C>T						FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y	p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			13	1706	+			364					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.1092C>T	CCDS55028.1																																																																																				0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		108	345	0	0	0	1	0	108	345					T	71232278	C	T	71232278	2	4	65	1	0	0	0	0	0	0	0	1	5469	518	18	2		2	FAM135A	6	71232278	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	27014446	71232278	99882789	69	7792											
RRAGD	58528	broad.mit.edu	37	chr6	90097155	90097155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggaaacatcttcccgGcatatcttattagtgctctc	7	11	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428																																						ENST00000369415.4																			1	Substitution - coding silent(1)	p.C101C(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(301-303)tgC>tgT		Ras-related GTP binding D							158	174	169					6																	90097155		2203	4300	6503	SO:0001819	synonymous_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097155G>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.303C>T	6.37:g.90097155G>A						RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	p.C101C	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	579	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	101						Silent	SNP	ENST00000369415.4	37	c.303C>T	CCDS5022.1																																																																																				0.428	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		8	990	0	0	0	1	0	8	990					A	90097155	G	A	90097155	2	1	65	1	0	0	0	0	0	0	0	1	13725	1195	42	2		2	RRAGD	6	90097155	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	18864877	90097155	81017912	70	7793											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880692	111880693	+	Frame_Shift_Ins	INS	-	-	T													tcagcagccgcagcaggatgINSttttttttattcttgggcca					rs186097801	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:111880692_111880693insT	ENST00000340026.6	-	10	2234_2235	c.1640_1641insA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N538fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGCAGGATGTTTTTTTTATT	0.55																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)aatfs		TRAF3 interacting protein 2			,,,	0,4264		0,0,2132					,,,	2.5	1			119	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	TRAF3IP2	NM_147686.2,NM_001164283.1,NM_001164282.1,NM_001164281.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880692_111880693insT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1641dupA	6.37:g.111880700_111880700dupT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091_2092	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37	c.1613_1614insA																																																																																					0.55	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			8	587						8	587	---	---	---	---	T	111880693	-	T	111880692	7	5	65	1	0	1	1	0	0	0	0	0	16494	1368	48	0	87	0	TRAF3IP2	6	111880692	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	21783537	111880692	59234375	71	7794											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	790						7	790	---	---	---	---	T	129959603	-	T	129959602	7	5	65	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	18078910	129959602	41155465	72	7795											
ARG1	383	broad.mit.edu	37	chr6	131894445	131894445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgccaagtccagaaccaTagggattattggagctcctt	11	10	0	1	rs149310631		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:131894445T>C	ENST00000368087.3	+	1	162	c.23T>C	c.(22-24)aTa>aCa	p.I8T	ARG1_ENST00000356962.2_Missense_Mutation_p.I8T|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	8					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCAGAACCATAGGGATTATT	0.423																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(22-24)aTa>aCa		arginase 1	L-Ornithine(DB00129)						105	100	102					6																	131894445		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131894445T>C		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.23T>C	6.37:g.131894445T>C	ENSP00000357066:p.Ile8Thr					ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.I8T|ARG1_ENST00000356962.2_Missense_Mutation_p.I8T	p.I8T			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	1	162	+	Breast(56;0.0753)		8					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.23T>C	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883549	0.17467	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86366	-2.11;-2.11;-2.11	5.79	5.79	0.91817	Ureohydrolase domain (1);	0.325628	0.33290	N	0.005063	D	0.84325	0.5447	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.30793	0.251;0.295	B;B	0.40410	0.318;0.328	T	0.80315	-0.1434	10	0.56958	D	0.05	-5.487	8.5965	0.33718	0.0:0.085:0.0:0.915	.	8;8	P05089-2;P05089	.;ARGI1_HUMAN	T	8	ENSP00000357066:I8T;ENSP00000349446:I8T;ENSP00000417694:I8T	ENSP00000349446:I8T	I	+	2	0	ARG1	131936138	0.030000	0.19436	0.132000	0.22025	0.004000	0.04260	2.543000	0.45752	2.213000	0.71641	0.533000	0.62120	ATA		0.423	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			68	205	0	0	0	1	0	68	205					C	131894445	T	C	131894445	3	2	65	1	0	0	0	0	1	0	0	0	857	1406	49	4	25	4	ARG1	6	131894445	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	1934843	131894445	39220622	73	7796											
ECT2L	345930	broad.mit.edu	37	chr6	139206663	139206663	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaaatgataccagcAttccgaactttcctgaagag	9	9	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:139206663A>C	ENST00000423192.1	+	16	2210	c.2049A>C	c.(2047-2049)gcA>gcC	p.A683A	ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	683	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGATACCAGCATTCCGAACTT	0.443			"N, Splice, Mis"		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2047-2049)gcA>gcC		epithelial cell transforming sequence 2 oncogene-like							110	104	106					6																	139206663		1918	4121	6039	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139206663A>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2049A>C	6.37:g.139206663A>C						ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron	p.A683A			Q008S8	ECT2L_HUMAN			16	2210	+			683			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.2049A>C	CCDS43508.1																																																																																				0.443	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		6	376	0	0	0	1	0	6	376					C	139206663	A	C	139206663	2	2	65	1	0	0	0	0	0	0	0	1	4918	204	8	4		4	ECT2L	6	139206663	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	7312218	139206663	31908404	74	7797											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		14	199						14	199	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	65	1	0	1	1	0	0	0	0	0	16156	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08		1586662	157552001	75	7798											
POM121L12	285877	broad.mit.edu	37	chr7	53104235	53104235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgaggtcacccagtctGctggcccctttggctcctaa	9	17	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:53104235G>T	ENST00000408890.4	+	1	887	c.871G>T	c.(871-873)Gct>Tct	p.A291S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	291										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGTCTGCTGGCCCCTT	0.607																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(871-873)Gct>Tct		POM121 transmembrane nucleoporin-like 12							42	46	45					7																	53104235		1997	4169	6166	SO:0001583	missense	285877							g.chr7:53104235G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.871G>T	7.37:g.53104235G>T	ENSP00000386133:p.Ala291Ser						p.A291S	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	887	+			291					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.871G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179487	0.21787	.	.	ENSG00000221900	ENST00000408890	T	0.26810	1.71	1.78	0.86	0.19042	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.12578	-1.0542	9	0.87932	D	0	.	6.0476	0.19768	0.0:0.3261:0.6739:0.0	.	291	Q8N7R1	P1L12_HUMAN	S	291	ENSP00000386133:A291S	ENSP00000386133:A291S	A	+	1	0	POM121L12	53071729	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-0.523000	0.06230	0.316000	0.23135	-0.304000	0.09214	GCT		0.607	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		55	330	1	0	5.5144e-22	1	6.02455e-22	55	330					T	53104235	G	T	53104235	3	4	65	1	0	0	0	0	1	0	0	0	12283	1319	46	3	873	3	POM121L12	7	53104235	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	51517573	53104235	106034428	76	7799											
COL1A2	1278	broad.mit.edu	37	chr7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccaaggtccagttggcCgaactggagaagtaggtgca	15	8	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2488-2490)Cga>Tga		collagen, type I, alpha 2	Collagenase(DB00048)						156	145	149					7																	94052353		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052353C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2488C>T	7.37:g.94052353C>T	ENSP00000297268:p.Arg830*	HNSCC(75;0.22)					p.R830*	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2959	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		830		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.2488C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		105	424	0	0	0	1	0	105	424					T	94052353	C	T	94052353	4	4	65	1	0	0	0	0	0	1	0	0	3687	644	23	1	2646	1	COL1A2	7	94052353	Nonsense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	40948118	94052353	65086310	77	7800											
MEPCE	56257	broad.mit.edu	37	chr7	100030663	100030663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacgagggcctgaagcGcatgtttcgccggatctacc	15	11	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100030663G>A	ENST00000310512.2	+	2	2181	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H|RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	598	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTGAAGCGCATGTTTCGC	0.592																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1792-1794)cGc>cAc		methylphosphate capping enzyme							89	81	84					7																	100030663		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100030663G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1793G>A	7.37:g.100030663G>A	ENSP00000308546:p.Arg598His					MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H	p.R598H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			2	2181	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		598			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.1793G>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259612	0.95368	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	T;T	0.47528	0.84;0.88	5.15	5.15	0.70609	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.000000	0.64402	D	0.000001	T	0.66665	0.2812	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67405	-0.5679	10	0.51188	T	0.08	-18.4044	16.4721	0.84114	0.0:0.0:1.0:0.0	.	598	Q7L2J0	MEPCE_HUMAN	H	129;129;598	ENSP00000400875:R129H;ENSP00000308546:R598H	ENSP00000308546:R598H	R	+	2	0	MEPCE	99868599	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.992000	0.93519	2.553000	0.86117	0.462000	0.41574	CGC		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			6	562	0	0	0	1	0	6	562					A	100030663	G	A	100030663	3	1	65	1	0	0	0	0	1	0	0	0	9518	1087	38	1	1799	1	MEPCE	7	100030663	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	5978310	100030663	59108000	78	7801											
PCOLCE	5118	broad.mit.edu	37	chr7	100204241	100204241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggagaaaacagaggaatctCcttcagcccctggtgagtct	11	11	3	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100204241C>T	ENST00000223061.5	+	6	1208	c.928C>T	c.(928-930)Cct>Tct	p.P310S	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGGAATCTCCTTCAGCCCC	0.572																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(928-930)Cct>Tct		procollagen C-endopeptidase enhancer							30	32	31					7																	100204241		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100204241C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.928C>T	7.37:g.100204241C>T	ENSP00000223061:p.Pro310Ser						p.P310S	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			6	1208	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		310					B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.928C>T	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429560	0.25726	.	.	ENSG00000106333	ENST00000223061	T	0.19938	2.11	4.69	3.78	0.43462	.	0.932278	0.09080	N	0.851413	T	0.11580	0.0282	N	0.08118	0	0.18873	N	0.999988	B	0.23937	0.094	B	0.16722	0.016	T	0.22800	-1.0206	10	0.48119	T	0.1	-3.7786	7.9145	0.29810	0.0:0.8816:0.0:0.1184	.	310	Q15113	PCOC1_HUMAN	S	310	ENSP00000223061:P310S	ENSP00000223061:P310S	P	+	1	0	PCOLCE	100042177	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.043000	0.30316	1.134000	0.42165	0.407000	0.27541	CCT		0.572	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		30	139	0	0	0	1	0	30	139					T	100204241	C	T	100204241	3	4	65	1	0	0	0	0	1	0	0	0	11636	855	30	2	950	2	PCOLCE	7	100204241	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	173578	100204241	58934422	79	7802											
ABCB8	11194	broad.mit.edu	37	chr7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgggccagtgcaggccGcacggtgctggtaattgccc	16	13	0	0	rs575426628		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:150741223G>A	ENST00000297504.6	+	16	2048	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000358849.4_Missense_Mutation_p.R644H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	661	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGTGCAGGCCGCACGGTGCTG	0.642																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1930-1932)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							60	51	54					7																	150741223		2203	4299	6502	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150741223G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1982G>A	7.37:g.150741223G>A	ENSP00000297504:p.Arg661His					ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000356058.4_3'UTR	p.R644H	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	2024	+			661			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1931G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.237329	0.95240	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;T	0.85088	-1.94;-1.94;-1.94;-0.67	4.79	4.79	0.61399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.90458	0.4444	10	0.49607	T	0.09	-2.0118	15.719	0.77694	0.0:0.0:1.0:0.0	.	556;644;661;644	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	H	644;627;661;556;644	ENSP00000351717:R644H;ENSP00000297504:R661H;ENSP00000438776:R556H;ENSP00000418271:R644H	ENSP00000297504:R661H	R	+	2	0	ABCB8	150372156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.512000	0.60469	2.651000	0.90000	0.563000	0.77884	CGC		0.642	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		5	349	0	0	0	1	0	5	349					A	150741223	G	A	150741223	3	1	65	1	0	0	0	0	1	0	0	0	47	1087	38	1	1989	1	ABCB8	7	150741223	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	50536982	150741223	8397440	80	7803											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		12	350						12	350	---	---	---	---	-	155531074	CA	-	155531073	7	5	65	1	0	1	0	1	0	0	0	0	13180	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-HV-A7OL-01A-11D-A33T-08	4789850	155531073	3607590	81	7804											
MYOM2	9172	broad.mit.edu	37	chr8	2041801	2041801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtgtttctcaggttcGtggtgcacggcttaaccacg	11	12	1	0	rs367658424		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:2041801G>A	ENST00000262113.4	+	17	2149	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	670	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCAGGTTCGTGGTGCACGG	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2008-2010)Gtg>Atg		myomesin 2							141	115	124					8																	2041801		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041801G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2008G>A	8.37:g.2041801G>A	ENSP00000262113:p.Val670Met					MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	p.V670M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2149	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	670			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2008G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095427	0.76870	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.57595	0.39;0.39	5.44	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065948	0.64402	D	0.000013	T	0.70307	0.3209	M	0.76328	2.33	0.41362	D	0.987435	D	0.76494	0.999	D	0.65443	0.935	T	0.75238	-0.3388	10	0.72032	D	0.01	.	14.5057	0.67750	0.071:0.0:0.929:0.0	.	670	P54296	MYOM2_HUMAN	M	670;95	ENSP00000262113:V670M;ENSP00000428396:V95M	ENSP00000262113:V670M	V	+	1	0	MYOM2	2029208	1.000000	0.71417	0.913000	0.36048	0.847000	0.48162	6.115000	0.71566	1.298000	0.44778	0.655000	0.94253	GTG		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		67	324	0	0	0	1	0	67	324					A	2041801	G	A	2041801	3	1	65	1	0	0	0	0	1	0	0	0	10133	1145	40	1	2070	1	MYOM2	8	2041801	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		2041801	144322221	82	7805											
SGK223	157285	broad.mit.edu	37	chr8	8175797	8175797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatccaccgccttctccGcaaacttcatcatcatcagg	6	16	5	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:8175797G>A	ENST00000520004.1	-	6	4352	c.4088C>T	c.(4087-4089)gCg>gTg	p.A1363V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1363V			Q86YV5	SG223_HUMAN		1367							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGCCTTCTCCGCAAACTTCAT	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4087-4089)gCg>gTg									92	108	103					8																	8175797		2152	4236	6388	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175797G>A																												ENST00000520004.1:c.4088C>T	8.37:g.8175797G>A	ENSP00000428054:p.Ala1363Val					SGK223_ENST00000330777.4_Missense_Mutation_p.A1363V	p.A1363V			Q86YV5	SG223_HUMAN			6	4352	-			1363					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4088C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070835	0.93950	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.16743	2.32;2.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23833	-1.0177	10	0.72032	D	0.01	.	18.5141	0.90930	0.0:0.0:1.0:0.0	.	1363	Q86YV5	SG223_HUMAN	V	1363	ENSP00000330930:A1363V;ENSP00000428054:A1363V	ENSP00000330930:A1363V	A	-	2	0	AC068353.1	8213207	1.000000	0.71417	0.814000	0.32528	0.985000	0.73830	9.764000	0.98949	2.701000	0.92244	0.462000	0.41574	GCG		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			6	895	0	0	0	1	0	6	895					A	8175797	G	A	8175797	3	1	65	1	0	0	0	0	1	0	0	0	14260	1087	38	1	124	1	SGK223	8	8175797	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6133996	8175797	138188225	83	7806											
LZTS1	11178	broad.mit.edu	37	chr8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattttggagctggacttgCcgtgaccggagtcctgggag	15	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(157-159)gGc>gAc		leucine zipper, putative tumor suppressor 1							94	88	90					8																	20112535		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112535C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.158G>A	8.37:g.20112535C>T	ENSP00000370981:p.Gly53Asp					LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D	p.G53D			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	515	-			53					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.158G>A	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		5	526	0	0	0	1	0	5	526					T	20112535	C	T	20112535	3	4	65	1	0	0	0	0	1	0	0	0	9177	739	26	2	1644	2	LZTS1	8	20112535	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	11936738	20112535	126251487	84	7807											
SFTPC	649	broad.mit.edu	37	chr8	22019355	22019355	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagatggatgtgggcaGcaaagaggtcctgatggaga	16	6	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:22019355G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGGGCAGCAAAGAGGTC	0.582																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(13-15)aGc>aAc		surfactant protein C							164	188	180					8																	22019355		2168	4261	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019355G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019355G>A	Exception_encountered					SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N	p.S5N			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	46	+			5					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.14G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		6	535	0	0	0	1	0	6	535					A	22019355	G	A	22019355	1	1	65	0	1	0	0	0	0	0	0	0	14242	971	34	2		2	SFTPC	8	22019355	5'Flank	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1906820	22019355	124344667	85	7808											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	420						7	420	---	---	---	---	-	30945379	AAG	-	30945377	7	5	65	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-HV-A7OL-01A-11D-A33T-08	8926022	30945377	115418645	86	7809											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	76	0	0	0	1	0	21	76					A	21971120	G	A	21971120	4	1	65	1	0	0	0	0	0	1	0	0	3170	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		21971120	119242311	87	7810											
PRUNE2	158471	broad.mit.edu	37	chr9	79438590	79438590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggccacttttatttcTccatctgacagctcctttag	5	12	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:79438590T>C	ENST00000376718.3	-	6	837	c.714A>G	c.(712-714)ggA>ggG	p.G238G	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.G238G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	238					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTTATTTCTCCATCTGACA	0.373																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(712-714)ggA>ggG		prune homolog 2 (Drosophila)							162	134	144					9																	79438590		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79438590T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.714A>G	9.37:g.79438590T>C						PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.G238G	p.G238G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			6	837	-			238					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.714A>G	CCDS47982.1																																																																																				0.373	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		90	486	0	0	0	1	0	90	486					C	79438590	T	C	79438590	2	2	65	1	0	0	0	0	0	0	0	1	12688	1538	54	4		4	PRUNE2	9	79438590	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	57467470	79438590	61774841	88	7811											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			19	285						19	285	---	---	---	---	-	102590618	CAC	-	102590616	7	5	65	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HV-A7OL-01A-11D-A33T-08	23152026	102590616	38622815	89	7812											
FBXW2	26190	broad.mit.edu	37	chr9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaatcaggctctctgtccGcaagtccatgatgtacaggt	9	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(1177-1179)Cgg>Tgg		F-box and WD repeat domain containing 2							107	105	105					9																	123527025		1948	4154	6102	SO:0001583	missense	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123527025G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp					FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	p.R393W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			8	1364	-			393					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.1177C>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG		0.517	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			7	572	0	0	0	1	0	7	572					A	123527025	G	A	123527025	3	1	65	1	0	0	0	0	1	0	0	0	5791	1086	38	1	191	1	FBXW2	9	123527025	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	20936409	123527025	17686406	90	7813											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854112	129854112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaaagactttgcggccGgaccagtcctccatggtcac	10	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:129854112G>A	ENST00000373425.3	-	4	1736	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	373	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.S373S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTTTGCGGCCGGACCAGTCCT	0.552																																						ENST00000373425.3																			1	Substitution - coding silent(1)	p.S373S(1)	urinary_tract(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1117-1119)tcC>tcT		angiopoietin-like 2							191	192	192					9																	129854112		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854112G>A	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1119C>T	9.37:g.129854112G>A						RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S	p.S373S	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1736	-			373			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.1119C>T	CCDS6868.1																																																																																				0.552	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		8	1451	0	0	0	1	0	8	1451					A	129854112	G	A	129854112	2	1	65	1	0	0	0	0	0	0	0	1	614	1103	39	1		1	ANGPTL2	9	129854112	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6327087	129854112	11359319	91	7814											
PRRX2	51450	broad.mit.edu	37	chr9	132481624	132481624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagcgcgtgttcgagcGcacgcactaccccgacgcct	13	16	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:132481624G>A	ENST00000372469.4	+	2	601	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	125					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GTGTTCGAGCGCACGCACTAC	0.701																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(373-375)cGc>cAc		paired related homeobox 2							20	21	21					9																	132481624		2184	4291	6475	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481624G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.374G>A	9.37:g.132481624G>A	ENSP00000361547:p.Arg125His						p.R125H	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			2	601	+		Ovarian(14;0.00556)	125					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.374G>A	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.387915|5.387915	0.95988|0.95988	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000557730|ENST00000372469	.|D	.|0.96334	.|-3.98	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97340|0.97340	0.9130|0.9130	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.98098|0.98098	1.0413|1.0413	5|10	.|0.87932	.|D	.|0	.|.	15.6697|15.6697	0.77264|0.77264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|125	.|Q99811	.|PRRX2_HUMAN	T|H	40|125	.|ENSP00000361547:R125H	.|ENSP00000361547:R125H	A|R	+|+	1|2	0|0	PRRX2|PRRX2	131521445|131521445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.471000|5.471000	0.66762|0.66762	2.187000|2.187000	0.69744|0.69744	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.701	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		4	57	0	0	0	1	0	4	57					A	132481624	G	A	132481624	3	1	65	1	0	0	0	0	1	0	0	0	12660	1087	38	1	380	1	PRRX2	9	132481624	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2627512	132481624	8731807	92	7815											
FIBCD1	84929	broad.mit.edu	37	chr9	133779512	133779512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgagtgagtactgccagCcggtccaggaggaccactcc	12	13	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:133779512C>T	ENST00000372338.4	-	7	1567	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	442	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTACTGCCAGCCGGTCCAGGA	0.637																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1324-1326)gGc>gAc		fibrinogen C domain containing 1							75	71	72					9																	133779512		2203	4300	6503	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779512C>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1325G>A	9.37:g.133779512C>T	ENSP00000361413:p.Gly442Asp					FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D	p.G442D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1567	-	all_hematologic(7;0.0028)		442			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.1325G>A	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702186	0.88924	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	D;D;D	0.82619	-1.63;-1.63;-1.63	4.66	4.66	0.58398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92390	0.5920	10	0.66056	D	0.02	.	16.1061	0.81223	0.0:1.0:0.0:0.0	.	442	Q8N539	FBCD1_HUMAN	D	442;442;284	ENSP00000414501:G442D;ENSP00000361413:G442D;ENSP00000361412:G284D	ENSP00000361412:G284D	G	-	2	0	FIBCD1	132769333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.967000	0.70403	2.138000	0.66242	0.455000	0.32223	GGC		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		5	413	0	0	0	1	0	5	413					T	133779512	C	T	133779512	3	4	65	1	0	0	0	0	1	0	0	0	5909	739	26	2	64	2	FIBCD1	9	133779512	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1297888	133779512	7433919	93	7816											
TTF1	7270	broad.mit.edu	37	chr9	135277201	135277202	+	Frame_Shift_Ins	INS	-	-	T													cctggtgattggactttttcINSttttttttcttagacttgtt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:135277201_135277202insT	ENST00000334270.2	-	2	1046_1047	c.1007_1008insA	c.(1006-1008)aagfs	p.K336fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	336	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.51																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1006-1008)aaafs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277201_135277202insT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1008dupA	9.37:g.135277209_135277209dupT	ENSP00000333920:p.Lys336fs						p.K336fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1046_1047	-		Myeloproliferative disorder(178;0.204)	336			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.1007_1008insA	CCDS6948.1																																																																																				0.51	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		11	751						11	751	---	---	---	---	T	135277202	-	T	135277201	7	5	65	1	0	1	1	0	0	0	0	0	16772	912	32	0	1749	0	TTF1	9	135277201	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	1497689	135277201	5936230	94	7817											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95	106	102					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	1041						8	1041	---	---	---	---	-	135941982	G	-	135941982	7	5	65	1	0	1	0	1	0	0	0	0	3218	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-HV-A7OL-01A-11D-A33T-08	664781	135941982	5271449	95	7818											
COL5A1	1289	broad.mit.edu	37	chr9	137593148	137593148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcatcatcgtgtttgGcacccggatcctggatgagg	13	10	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:137593148G>A	ENST00000371817.3	+	4	1037	c.623G>A	c.(622-624)gGc>gAc	p.G208D	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	208	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGTGTTTGGCACCCGGATC	0.552																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(622-624)gGc>gAc		collagen, type V, alpha 1							142	108	119					9																	137593148		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593148G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.623G>A	9.37:g.137593148G>A	ENSP00000360882:p.Gly208Asp					COL5A1_ENST00000464187.1_3'UTR	p.G208D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	1037	+		Myeloproliferative disorder(178;0.0341)	208			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.623G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075833	0.55646	.	.	ENSG00000130635	ENST00000371817	D	0.95918	-3.85	4.93	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.97870	0.9300	H	0.95260	3.645	0.58432	D	0.999994	P	0.52692	0.955	P	0.57204	0.815	D	0.98523	1.0624	10	0.87932	D	0	.	13.5115	0.61515	0.0763:0.0:0.9237:0.0	.	208	P20908	CO5A1_HUMAN	D	208	ENSP00000360882:G208D	ENSP00000360882:G208D	G	+	2	0	COL5A1	136732969	1.000000	0.71417	0.742000	0.31022	0.439000	0.31926	9.489000	0.97949	1.196000	0.43129	0.491000	0.48974	GGC		0.552	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	142	0	0	0	1	0	8	142					A	137593148	G	A	137593148	3	1	65	1	0	0	0	0	1	0	0	0	3705	1203	42	2	637	2	COL5A1	9	137593148	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1651166	137593148	3620283	96	7819											
GRIN1	2902	broad.mit.edu	37	chr9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-													gccggttcaaggtgaacagcGaggaggaggaggaggacgca							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGAACAGCGAGGAGGAGGAGG	0.739																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1780-1782)del		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)		,,,,	95,4145		0,95,2025					,,,,	-5.9	1			22	193,8033		5,183,3925	no	coding,coding,coding,coding,coding	GRIN1	NM_021569.3,NM_007327.3,NM_001185091.1,NM_001185090.1,NM_000832.6	,,,,	5,278,5950	A1A1,A1R,RR		2.3462,2.2406,2.3103	,,,,	,,,,		288,12178				SO:0001651	inframe_deletion	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056884_140056886delGAG		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1780_1782delGAG	9.37:g.140056893_140056895delGAG	ENSP00000360616:p.Glu598del					GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del	p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	13	2877_2879	+	all_cancers(76;0.0926)		598					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	In_Frame_Del	DEL	ENST00000371561.3	37	c.1780_1782delGAG	CCDS7031.1																																																																																				0.739	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		8	235						8	235	---	---	---	---	-	140056886	GAG	-	140056884	7	5	65	1	0	1	0	1	0	0	0	0	6808	1059	37	0	1897	0	GRIN1	9	140056884	In_Frame_Del	DEL	GAG	TCGA-HV-A7OL-01A-11D-A33T-08	2463736	140056884	1156547	97	7820											
CUBN	8029	broad.mit.edu	37	chr10	16919089	16919089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagcttcccgtcacagcGgaacgagctggaaaaggcat	11	12	1	0	rs370685424		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:16919089G>A	ENST00000377833.4	-	57	8978	c.8913C>T	c.(8911-8913)tcC>tcT	p.S2971S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2971	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTCACAGCGGAACGAGCTG	0.453													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8911-8913)tcC>tcT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	A		3,4403	823.8+/-416.5	0,3,2200	62	49	53		8913	-11.8	0	10		53	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		2971/3624	16919089	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16919089G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8913C>T	10.37:g.16919089G>A							p.S2971S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			57	8978	-			2971			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8913C>T	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	152	0	0	0	1	0	4	152					A	16919089	G	A	16919089	2	1	65	1	0	0	0	0	0	0	0	1	4062	1103	39	1		1	CUBN	10	16919089	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		16919089	118615658	98	7821											
ARMC3	219681	broad.mit.edu	37	chr10	23250963	23250963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtctcgaacaatgctaagaGacaatcaaggattggaccat	9	8	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:23250963G>A	ENST00000298032.5	+	7	772	c.688G>A	c.(688-690)Gac>Aac	p.D230N	ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N|ARMC3_ENST00000376528.4_Intron	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	230						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATGCTAAGAGACAATCAAGG	0.368																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(688-690)Gac>Aac		armadillo repeat containing 3							76	69	72					10																	23250963		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23250963G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.688G>A	10.37:g.23250963G>A	ENSP00000298032:p.Asp230Asn					ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N	p.D230N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			7	772	+			230					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.688G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478799	0.63849	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.19105	2.17;2.17;2.17	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.258007	0.43747	D	0.000526	T	0.22322	0.0538	L	0.38531	1.155	0.80722	D	1	B;B	0.28713	0.07;0.22	B;B	0.28991	0.055;0.097	T	0.02026	-1.1227	10	0.48119	T	0.1	-1.008	19.746	0.96252	0.0:0.0:1.0:0.0	.	230;230	Q5W041-4;Q5W041	.;ARMC3_HUMAN	N	230;230;166;230	ENSP00000298032:D230N;ENSP00000386943:D230N;ENSP00000387288:D230N	ENSP00000298032:D230N	D	+	1	0	ARMC3	23290969	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	5.700000	0.68318	2.673000	0.90976	0.650000	0.86243	GAC		0.368	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		34	128	0	0	0	1	0	34	128					A	23250963	G	A	23250963	3	1	65	1	0	0	0	0	1	0	0	0	953	942	33	2	710	2	ARMC3	10	23250963	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6331874	23250963	112283784	99	7822											
DNA2	1763	broad.mit.edu	37	chr10	70182520	70182521	+	Frame_Shift_Ins	INS	-	-	A													cactaacacaaatctccgtgINSaaaaaaaaagggggcccaga							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:70182520_70182521insA	ENST00000358410.3	-	15	2385_2386	c.2335_2336insT	c.(2335-2337)tcafs	p.S779fs	DNA2_ENST00000399180.2_Frame_Shift_Ins_p.S865fs|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	779	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AAATCTCCGTGAAAAAAAAAGG	0.406																																						ENST00000399180.2																			2	Deletion - Frameshift(2)	p.S779fs*6(1)|p.S865fs*6(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2593-2595)acgfs		DNA replication helicase/nuclease 2																																				SO:0001589	frameshift_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182520_70182521insA	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2336dupT	10.37:g.70182529_70182529dupA	ENSP00000351185:p.Ser779fs					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Frame_Shift_Ins_p.T779fs	p.T865fs			P51530	DNA2L_HUMAN			15	2592_2593	-			779					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Ins	INS	ENST00000358410.3	37	c.2593_2594insT																																																																																					0.406	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			9	210						9	210	---	---	---	---	A	70182521	-	A	70182520	7	5	65	1	0	1	1	0	0	0	0	0	4612	1294	45	0	874	0	DNA2	10	70182520	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	46931557	70182520	65352227	100	7823											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-													aaggaggccgtcatcttgtgCttcttcttcttctcctcaca							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		8	436						8	436	---	---	---	---	-	72358624	CTT	-	72358622	7	5	65	1	0	1	0	1	0	0	0	0	12525	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-HV-A7OL-01A-11D-A33T-08	2176102	72358622	63176125	101	7824											
DUSP13	51207	broad.mit.edu	37	chr10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaacttgcctgcagcgGcattcacaacgtgggtgatt	12	11	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	78					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(619-621)gCc>gTc		dual specificity phosphatase 13							205	181	189					10																	76855494		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855494G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.233C>T	10.37:g.76855494G>A	ENSP00000444580:p.Ala78Val					DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372702.3_3'UTR	p.A207V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1162	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		70					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.620C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		0.577	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			6	747	0	0	0	1	0	6	747					A	76855494	G	A	76855494	3	1	65	1	0	0	0	0	1	0	0	0	4829	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	4496872	76855494	58679253	102	7825											
ABCC2	1244	broad.mit.edu	37	chr10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A													cctaggaagatgttgaaaagINSaaaaaaaagaagtctgggac							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(883-885)aaafs	p.K295fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	295					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTTGAAAAGAAAAAAAAGAA	0.441																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.K294N(1)	breast(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(880-885)aaaaaafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558978_101558979insA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.890dupA	10.37:g.101558986_101558986dupA	ENSP00000359478:p.Lys295fs						p.KK294fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	995_996	+		Colorectal(252;0.234)	294					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Ins	INS	ENST00000370449.4	37	c.882_883insA	CCDS7484.1																																																																																				0.441	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	909						7	909	---	---	---	---	A	101558979	-	A	101558978	7	5	65	1	0	1	1	0	0	0	0	0	53	933	33	0	912	0	ABCC2	10	101558978	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	24703484	101558978	33975769	103	7826											
SFXN4	119559	broad.mit.edu	37	chr10	120914629	120914629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttccttgtccatgaccGcaatccccttaatggattca	6	14	1	1	rs151157939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:120914629G>A	ENST00000355697.2	-	11	696	c.677C>T	c.(676-678)gCg>gTg	p.A226V	SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	226					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTCCATGACCGCAATCCCCTT	0.478																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(676-678)gCg>gTg		sideroflexin 4		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	148	124	132		677	2.4	0.8	10	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN4	NM_213649.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	226/338	120914629	2,13004	2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120914629G>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.677C>T	10.37:g.120914629G>A	ENSP00000347924:p.Ala226Val					SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	p.A226V	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	11	696	-		Lung NSC(174;0.094)|all_lung(145;0.123)	226					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.677C>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120310	0.20877	2.27E-4	1.16E-4	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.30714	1.52;1.52;1.52	4.77	2.38	0.29361	.	0.608708	0.17108	N	0.186736	T	0.19005	0.0456	L	0.36672	1.1	0.09310	N	1	P	0.47677	0.899	B	0.38755	0.281	T	0.08806	-1.0704	10	0.33940	T	0.23	-8.9942	5.8839	0.18870	0.0:0.0913:0.1753:0.7334	.	226	Q6P4A7	SFXN4_HUMAN	V	226;217;109;110	ENSP00000347924:A226V;ENSP00000333200:A217V;ENSP00000358127:A110V	ENSP00000333200:A217V	A	-	2	0	SFXN4	120904619	0.189000	0.23263	0.799000	0.32177	0.166000	0.22503	0.232000	0.17891	0.867000	0.35654	-0.281000	0.10026	GCG		0.478	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		5	417	0	0	0	1	0	5	417					A	120914629	G	A	120914629	3	1	65	1	0	0	0	0	1	0	0	0	14247	1087	38	1	352	1	SFXN4	10	120914629	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	19355651	120914629	14620118	104	7827											
TTC17	55761	broad.mit.edu	37	chr11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaacacatagattttgCcacccctatacagcagccag	6	14	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2809-2811)gCc>gTc		tetratricopeptide repeat domain 17							121	112	115					11																	43471655		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43471655C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2810C>T	11.37:g.43471655C>T	ENSP00000039989:p.Ala937Val						p.A937V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			20	2824	+			937					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2810C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC		0.473	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		6	684	0	0	0	1	0	6	684					T	43471655	C	T	43471655	3	4	65	1	0	0	0	0	1	0	0	0	16738	739	26	2	2888	2	TTC17	11	43471655	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		43471655	91534861	105	7828											
KBTBD4	55709	broad.mit.edu	37	chr11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-													ccacttgcactgtgcgggccAaaaaccgagagcattcctca							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174	172	173					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		7	945						7	945	---	---	---	---	-	47599139	A	-	47599139	7	5	65	1	0	1	0	1	0	0	0	0	8025	131	5	0	1155	0	KBTBD4	11	47599139	Frame_Shift_Del	DEL	A	TCGA-HV-A7OL-01A-11D-A33T-08	4127484	47599139	87407377	106	7829											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466302	57466302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggccaaccagacacgcaAtggaagcctatcttatgaca	8	13	1	2	rs369287219		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57466302A>G	ENST00000287169.3	+	11	2756	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	465					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGACACGCAATGGAAGCCTA	0.557																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1393-1395)aAt>aGt		zinc finger, DHHC-type containing 5		A	SER/ASN	0,4402		0,0,2201	96	75	82		1394	5.1	1	11		82	1,8591	1.2+/-3.3	0,1,4295	no	missense	ZDHHC5	NM_015457.2	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	465/716	57466302	1,12993	2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466302A>G	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1394A>G	11.37:g.57466302A>G	ENSP00000287169:p.Asn465Ser					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	p.N465S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2756	+			465					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1394A>G	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918245	0.73098	0.0	1.16E-4	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.85013	-0.09;0.89;-1.93	5.09	5.09	0.68999	.	0.269487	0.37219	N	0.002189	D	0.84224	0.5425	L	0.37561	1.115	0.80722	D	1	P	0.42827	0.791	P	0.48873	0.593	D	0.85335	0.1092	10	0.52906	T	0.07	-19.2371	14.709	0.69215	1.0:0.0:0.0:0.0	.	465	Q9C0B5	ZDHC5_HUMAN	S	412;465;299	ENSP00000432202:N412S;ENSP00000287169:N465S;ENSP00000435722:N299S	ENSP00000287169:N465S	N	+	2	0	ZDHHC5	57222878	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	8.502000	0.90505	2.146000	0.66826	0.460000	0.39030	AAT		0.557	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		48	236	0	0	0	1	0	48	236					G	57466302	A	G	57466302	3	3	65	1	0	0	0	0	1	0	0	0	17671	101	4	4	1432	4	ZDHHC5	11	57466302	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	9867163	57466302	77540214	107	7830											
CTNND1	1500	broad.mit.edu	37	chr11	57559074	57559074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacgtctcggcgcagctgGaacgcgtccgggtctcacca	13	16	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57559074G>A	ENST00000399050.4	+	3	660	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000524630.1_Missense_Mutation_p.E42K|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532463.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	42					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGCGCAGCTGGAACGCGTCCG	0.637																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(124-126)Gaa>Aaa		catenin (cadherin-associated protein), delta 1							40	45	44					11																	57559074		2089	4199	6288	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57559074G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.124G>A	11.37:g.57559074G>A	ENSP00000382004:p.Glu42Lys					CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Intron|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000529873.1_5'UTR	p.E42K			O60716	CTND1_HUMAN			3	637	+		all_epithelial(135;0.155)	42					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.124G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405970	0.83230	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000428599;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	.	0.176390	0.50627	D	0.000116	T	0.35913	0.0948	L	0.59436	1.845	0.36574	D	0.873151	P;P;P;P;P;P	0.42248	0.774;0.774;0.665;0.774;0.762;0.665	B;B;B;B;B;B	0.39379	0.236;0.236;0.119;0.236;0.298;0.119	T	0.47484	-0.9114	10	0.72032	D	0.01	-9.2286	18.7943	0.91988	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42	O60716-3;O60716-2;O60716;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.	K	42	ENSP00000436543:E42K;ENSP00000434808:E42K;ENSP00000381996:E42K;ENSP00000353902:E42K;ENSP00000354907:E42K;ENSP00000382004:E42K;ENSP00000354785:E42K;ENSP00000354823:E42K;ENSP00000351527:E42K;ENSP00000413586:E42K;ENSP00000432041:E42K	ENSP00000351527:E42K	E	+	1	0	CTNND1	57315650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.153000	0.89640	2.809000	0.96659	0.655000	0.94253	GAA		0.637	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		37	198	0	0	0	1	0	37	198					A	57559074	G	A	57559074	3	1	65	1	0	0	0	0	1	0	0	0	4030	1175	41	2	126	2	CTNND1	11	57559074	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	92772	57559074	77447442	108	7831											
DAGLA	747	broad.mit.edu	37	chr11	61511762	61511762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccccacggctctttgCcggctcagccgacccctcct	8	21	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:61511762C>T	ENST00000257215.5	+	20	3046	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCTCTTTGCCGGCTCAGCC	0.672																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2929-2931)gCc>gTc		diacylglycerol lipase, alpha							55	64	61					11																	61511762		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511762C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2930C>T	11.37:g.61511762C>T	ENSP00000257215:p.Ala977Val						p.A977V	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3046	+			977					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2930C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357139	0.82243	.	.	ENSG00000134780	ENST00000257215	T	0.38240	1.15	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.27053	0.805	0.58432	D	0.999998	D	0.61697	0.99	P	0.57204	0.815	T	0.49331	-0.8951	10	0.87932	D	0	-22.923	16.5651	0.84577	0.0:1.0:0.0:0.0	.	977	Q9Y4D2	DGLA_HUMAN	V	977	ENSP00000257215:A977V	ENSP00000257215:A977V	A	+	2	0	DAGLA	61268338	1.000000	0.71417	0.979000	0.43373	0.966000	0.64601	5.512000	0.67030	1.979000	0.57680	0.462000	0.41574	GCC		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	507	0	0	0	1	0	5	507					T	61511762	C	T	61511762	3	4	65	1	0	0	0	0	1	0	0	0	4237	739	26	2	3004	2	DAGLA	11	61511762	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3952688	61511762	73494754	109	7832											
ATG2A	23130	broad.mit.edu	37	chr11	64666137	64666137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacgtcgcggcatccGctcactcgtgtgtaggtaca	14	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:64666137G>A	ENST00000377264.3	-	32	4754	c.4642C>T	c.(4642-4644)Cgg>Tgg	p.R1548W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R1550W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1548					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)				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						CGCGGCATCCGCTCACTCGTG	0.607																																						ENST00000421419.2																			0				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						c.(4648-4650)Cgg>Tgg		autophagy related 2A							92	67	75					11																	64666137		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64666137G>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.4642C>T	11.37:g.64666137G>A	ENSP00000366475:p.Arg1548Trp					ATG2A_ENST00000377264.3_Missense_Mutation_p.R1548W	p.R1550W			Q2TAZ0	ATG2A_HUMAN			32	4762	-			1548					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4648C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352957|4.352957	0.82132|0.82132	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07444	.|3.19;3.19	4.27|4.27	3.28|3.28	0.37604|0.37604	.|.	.|0.058658	.|0.64402	.|D	.|0.000003	T|T	0.17408|0.17408	0.0418|0.0418	L|L	0.47716|0.47716	1.5|1.5	0.38104|0.38104	D|D	0.937356|0.937356	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.66084	.|0.874;0.941	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.66056	.|D	.|0.02	.|.	9.0664|9.0664	0.36467|0.36467	0.0:0.0:0.6774:0.3226|0.0:0.0:0.6774:0.3226	.|.	.|1548;1550	.|Q2TAZ0;Q2TAZ0-3	.|ATG2A_HUMAN;.	V|W	1351|1550;1548	.|ENSP00000410522:R1550W;ENSP00000366475:R1548W	.|ENSP00000366475:R1548W	A|R	-|-	2|1	0|2	ATG2A|ATG2A	64422713|64422713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	1.056000|1.056000	0.30480|0.30480	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.607	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		69	276	0	0	0	1	0	69	276					A	64666137	G	A	64666137	3	1	65	1	0	0	0	0	1	0	0	0	1094	1086	38	1	1214	1	ATG2A	11	64666137	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3154375	64666137	70340379	110	7833											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		10	1074	0	0	0	1	0	10	1074					A	66392698	G	A	66392698	3	1	65	1	0	0	0	0	1	0	0	0	13165	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1726561	66392698	68613818	111	7834											
SYT12	91683	broad.mit.edu	37	chr11	66807334	66807334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcggggaccacccagccGcaaaggcagtctcagcattg	12	15	1	0	rs34985365		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66807334G>A	ENST00000393946.2	+	7	1443	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	94						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCACCCAGCCGCAAAGGCAGT	0.637																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(280-282)cGc>cAc		synaptotagmin XII							78	83	81					11																	66807334		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807334G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.281G>A	11.37:g.66807334G>A	ENSP00000377520:p.Arg94His					SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H	p.R94H			Q8IV01	SYT12_HUMAN			7	1443	+			94						Missense_Mutation	SNP	ENST00000393946.2	37	c.281G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840495	0.71488	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.14391	2.51;2.51;2.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.00787	-1.1566	10	0.52906	T	0.07	.	13.8906	0.63736	0.0:0.0:1.0:0.0	rs34985365	94	Q8IV01	SYT12_HUMAN	H	94	ENSP00000377520:R94H;ENSP00000431400:R94H;ENSP00000435316:R94H	ENSP00000377520:R94H	R	+	2	0	SYT12	66563910	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	9.228000	0.95250	2.655000	0.90218	0.462000	0.41574	CGC		0.637	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		6	776	0	0	0	1	0	6	776					A	66807334	G	A	66807334	3	1	65	1	0	0	0	0	1	0	0	0	15520	1087	38	1	291	1	SYT12	11	66807334	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	414636	66807334	68199182	112	7835											
SHANK2	22941	broad.mit.edu	37	chr11	70332955	70332955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgggctccctgggcgtgGcactcggcatgggggatgac	17	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:70332955G>A	ENST00000423696.2	-	15	2342	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1149V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	769					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGGCGTGGCACTCGGCAT	0.687																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3445-3447)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							31	36	34					11																	70332955		2200	4289	6489	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332955G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2306C>T	11.37:g.70332955G>A	ENSP00000394536:p.Ala769Val					SHANK2_ENST00000423696.2_Missense_Mutation_p.A769V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V	p.A1149V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3445	-			769					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3446C>T		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.403109	0.00195	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.93	4.01	0.46588	.	0.553055	0.21123	N	0.079793	T	0.27489	0.0675	L	0.27053	0.805	0.28455	N	0.916148	B;B;B	0.14012	0.0;0.003;0.009	B;B;B	0.13407	0.004;0.006;0.009	T	0.15378	-1.0439	10	0.22109	T	0.4	.	9.1801	0.37136	0.1649:0.0:0.8351:0.0	.	769;1148;553	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	553;552;427;1149;769;787;772	ENSP00000399423:A553V;ENSP00000386491:A552V;ENSP00000402944:A427V;ENSP00000345193:A1149V;ENSP00000394536:A769V;ENSP00000294018:A772V	ENSP00000294018:A772V	A	-	2	0	SHANK2	70010603	0.876000	0.30132	0.002000	0.10522	0.013000	0.08279	4.880000	0.63107	1.070000	0.40811	0.561000	0.74099	GCC		0.687	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	446	0	0	0	1	0	5	446					A	70332955	G	A	70332955	3	1	65	1	0	0	0	0	1	0	0	0	14315	1203	42	2	2114	2	SHANK2	11	70332955	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3525621	70332955	64673561	113	7836											
NUMA1	4926	broad.mit.edu	37	chr11	71724163	71724163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccacttccagaaactgCcggccaaggttggcccgctc	9	16	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:71724163C>T	ENST00000393695.3	-	15	4717	c.4386G>A	c.(4384-4386)cgG>cgA	p.R1462R	NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGAAACTGCCGGCCAAGGT	0.622			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4384-4386)cgG>cgA		nuclear mitotic apparatus protein 1							93	97	95					11																	71724163		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724163C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4386G>A	11.37:g.71724163C>T						NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron	p.R1462R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4717	-			1462						Silent	SNP	ENST00000393695.3	37	c.4386G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466673	0.12402	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.14	4.23	0.50019	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	4	.	.	.	.	8.995	0.36048	0.0:0.7729:0.1485:0.0786	.	.	.	.	D	307	.	.	G	-	2	0	NUMA1	71401811	0.917000	0.31117	1.000000	0.80357	0.933000	0.57130	0.333000	0.19768	1.395000	0.46643	0.655000	0.94253	GGC		0.622	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	902	0	0	0	1	0	8	902					T	71724163	C	T	71724163	2	4	65	1	0	0	0	0	0	0	0	1	10792	726	26	2		2	NUMA1	11	71724163	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1391208	71724163	63282353	114	7837											
ARAP1	116985	broad.mit.edu	37	chr11	72404390	72404390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggacctccttgtagagccGcaagcagctgctgttgagga	13	12	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:72404390G>A	ENST00000393609.3	-	29	4136	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1312W	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1312	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGTAGAGCCGCAAGCAGCTG	0.612																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3934-3936)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							66	68	67					11																	72404390		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72404390G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3934C>T	11.37:g.72404390G>A	ENSP00000377233:p.Arg1312Trp					ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA	p.R1312W			Q96P48	ARAP1_HUMAN			29	4785	-			1312			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3934C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234264	0.58886	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.74	2.51	0.30379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.120365	0.53938	D	0.000046	T	0.77545	0.4146	L	0.38175	1.15	0.42463	D	0.99279	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;1.0;0.994;0.978;0.975	T	0.77175	-0.2684	10	0.66056	D	0.02	.	9.5284	0.39178	0.0765:0.0:0.6605:0.263	.	1067;1006;1312;1312;1072	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	W	1312;1312;1072;1067;1312;1067;1006;116	ENSP00000352332:R1312W;ENSP00000390461:R1312W;ENSP00000377230:R1072W;ENSP00000335506:R1067W;ENSP00000377233:R1312W;ENSP00000392264:R1067W;ENSP00000403127:R1006W;ENSP00000441741:R116W	ENSP00000335506:R1067W	R	-	1	2	ARAP1	72082038	0.998000	0.40836	1.000000	0.80357	0.524000	0.34500	2.315000	0.43752	0.761000	0.33130	-0.266000	0.10368	CGG		0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		5	429	0	0	0	1	0	5	429					A	72404390	G	A	72404390	3	1	65	1	0	0	0	0	1	0	0	0	838	1086	38	1	446	1	ARAP1	11	72404390	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	680227	72404390	62602126	115	7838											
CREBZF	58487	broad.mit.edu	37	chr11	85375165	85375165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacgcgtttgcccagcTcccgattctcggcccgcagc	10	18	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:85375165T>C	ENST00000527447.1	-	1	981	c.755A>G	c.(754-756)gAg>gGg	p.E252G	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	252	Leucine-zipper. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTTGCCCAGCTCCCGATTCTC	0.622											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(754-756)gAg>gGg		CREB/ATF bZIP transcription factor							106	120	116					11																	85375165		2119	4236	6355	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375165T>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.755A>G	11.37:g.85375165T>C	ENSP00000433459:p.Glu252Gly		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	p.E252G	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	981	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	252			Leucine-zipper.		B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.755A>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226321	0.39300	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	T;T	0.56611	0.45;0.45	4.89	4.89	0.63831	Basic-leucine zipper (bZIP) transcription factor (1);bZIP transcription factor, bZIP-1 (1);	0.096735	0.41938	D	0.000795	T	0.37128	0.0992	L	0.34521	1.04	0.34338	D	0.688429	B	0.24651	0.108	B	0.22386	0.039	T	0.45659	-0.9246	9	.	.	.	-7.8605	7.6471	0.28327	0.0:0.1284:0.0:0.8716	.	252	Q9NS37	ZHANG_HUMAN	G	170;252	ENSP00000381342:E170G;ENSP00000433459:E252G	.	E	-	2	0	CREBZF	85052813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	2.058000	0.61347	0.533000	0.62120	GAG		0.622	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		244	1091	0	0	0	1	0	244	1091					C	85375165	T	C	85375165	3	2	65	1	0	0	0	0	1	0	0	0	3872	1551	54	4	313	4	CREBZF	11	85375165	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	12970775	85375165	49631351	116	7839											
NCAM1	4684	broad.mit.edu	37	chr11	113078690	113078690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgagaacaaggctggCgagcaggatgcgaccatcca	13	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:113078690C>T	ENST00000533760.1	+	7	1127	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCAM1_ENST00000316851.7_Silent_p.G284G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G293G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	294	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACAAGGCTGGCGAGCAGGATG	0.532																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(850-852)ggC>ggT		neural cell adhesion molecule 1							56	56	56					11																	113078690		2067	4214	6281	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078690C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.528C>T	11.37:g.113078690C>T						NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000533760.1_Silent_p.G176G|NCAM1_ENST00000397957.4_3'UTR	p.G284G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	852	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	294			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.852C>T																																																																																					0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		18	72	0	0	0	1	0	18	72					T	113078690	C	T	113078690	2	4	65	1	0	0	0	0	0	0	0	1	10244	755	27	1		1	NCAM1	11	113078690	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	27703525	113078690	21927826	117	7840											
NLRX1	79671	broad.mit.edu	37	chr11	119050548	119050548	+	Frame_Shift_Del	DEL	C	C	-													agtatcctgggcgtggagggCccccggcgccacccagatga							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119050548delC	ENST00000409109.1	+	7	2405	c.1818delC	c.(1816-1818)ggcfs	p.G606fs	NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	606	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		GCGTGGAGGGCCCCCGGCGCC	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1816-1818)ggfs		NLR family member X1							90	97	94					11																	119050548		2200	4295	6495	SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050548delC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1818delC	11.37:g.119050548delC	ENSP00000387334:p.Gly606fs					NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs	p.G606fs			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2405	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	606			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Del	DEL	ENST00000409109.1	37	c.1818delC	CCDS8416.1																																																																																				0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		7	926						7	926	---	---	---	---	-	119050548	C	-	119050548	7	5	65	1	0	1	0	1	0	0	0	0	10527	726	26	0	1840	0	NLRX1	11	119050548	Frame_Shift_Del	DEL	C	TCGA-HV-A7OL-01A-11D-A33T-08	5971858	119050548	15955968	118	7841											
CBL	867	broad.mit.edu	37	chr11	119148958	119148958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaggatgtaaagaTtgagccctgtggacacctca	10	7	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119148958T>C	ENST00000264033.4	+	8	1554	c.1178T>C	c.(1177-1179)aTt>aCt	p.I393T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	393	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATGTAAAGATTGAGCCCTGT	0.368			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		16	Deletion - In frame(15)|Unknown(1)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(16)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1177-1179)aTt>aCt		Cbl proto-oncogene, E3 ubiquitin protein ligase							118	111	113					11																	119148958		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119148958T>C	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1178T>C	11.37:g.119148958T>C	ENSP00000264033:p.Ile393Thr						p.I393T	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	8	1554	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	393			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1178T>C	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515433	0.64634	.	.	ENSG00000110395	ENST00000264033	D	0.96011	-3.88	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97019	0.9742	10	0.87932	D	0	-15.1332	15.9527	0.79855	0.0:0.0:0.0:1.0	.	393	P22681	CBL_HUMAN	T	393	ENSP00000264033:I393T	ENSP00000264033:I393T	I	+	2	0	CBL	118654168	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	7.655000	0.83696	2.227000	0.72691	0.455000	0.32223	ATT		0.368	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		6	461	0	0	0	1	0	6	461					C	119148958	T	C	119148958	3	2	65	1	0	0	0	0	1	0	0	0	2707	1493	52	4	1208	4	CBL	11	119148958	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	98410	119148958	15857558	119	7842											
USP2	9099	broad.mit.edu	37	chr11	119230302	119230302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtcccgcatgtagagCctctggaggcagtaatctct	12	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119230302C>A	ENST00000260187.2	-	4	1188	c.894G>T	c.(892-894)agG>agT	p.R298S	USP2_ENST00000525735.1_Missense_Mutation_p.R89S|USP2_ENST00000455332.2_Missense_Mutation_p.R55S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	298	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCATGTAGAGCCTCTGGAGGC	0.582																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(892-894)agG>agT		ubiquitin specific peptidase 2							99	84	89					11																	119230302		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119230302C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.894G>T	11.37:g.119230302C>A	ENSP00000260187:p.Arg298Ser					USP2_ENST00000455332.2_Missense_Mutation_p.R55S|USP2_ENST00000525735.1_Missense_Mutation_p.R89S	p.R298S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	4	1188	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	298					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.894G>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811636	0.32053	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.29655	1.56;1.56;1.56	5.28	2.31	0.28768	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196121	0.52532	D	0.000067	T	0.17109	0.0411	N	0.25201	0.72	0.27590	N	0.949293	B;B;B	0.26483	0.15;0.048;0.0	B;B;B	0.28991	0.097;0.057;0.004	T	0.12760	-1.0535	10	0.34782	T	0.22	-7.6172	3.7498	0.08562	0.1619:0.4776:0.0:0.3605	.	55;298;89	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	S	55;298;45;89	ENSP00000407842:R55S;ENSP00000260187:R298S;ENSP00000436952:R89S	ENSP00000260187:R298S	R	-	3	2	USP2	118735512	0.993000	0.37304	0.995000	0.50966	0.905000	0.53344	1.262000	0.32992	0.339000	0.23719	-0.345000	0.07892	AGG		0.582	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	235	1	0	0.150653	1	0.151878	4	235					A	119230302	C	A	119230302	3	1	65	1	0	0	0	0	1	0	0	0	17105	738	26	3	963	3	USP2	11	119230302	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	81344	119230302	15776214	120	7843											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	231						8	231	---	---	---	---	-	119535680	CCT	-	119535678	7	5	65	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-HV-A7OL-01A-11D-A33T-08	305376	119535678	15470838	121	7844											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		22	510	0	0	0	1	0	22	510					C	3649787	T	C	3649787	3	2	65	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08		3649787	130202108	122	7845											
DDX47	51202	broad.mit.edu	37	chr12	12980302	12980302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaagcccaaaggtttgCccgaatggtatgcatctttc	10	11	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:12980302C>T	ENST00000358007.3	+	11	1251	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DDX47_ENST00000352940.4_Missense_Mutation_p.A361V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	410					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAAAGGTTTGCCCGAATGGTA	0.428																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1228-1230)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							223	220	221					12																	12980302		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12980302C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1229C>T	12.37:g.12980302C>T	ENSP00000350698:p.Ala410Val					DDX47_ENST00000352940.4_Missense_Mutation_p.A361V|RP11-59H1.3_ENST00000534843.1_3'UTR	p.A410V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	11	1251	+		Prostate(47;0.0526)	410					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.1229C>T	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628472	0.67015	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.28454	2.38;1.61	5.75	4.86	0.63082	.	0.055390	0.64402	D	0.000001	T	0.43299	0.1241	M	0.66378	2.025	0.80722	D	1	B;B	0.25850	0.115;0.136	B;B	0.41236	0.351;0.164	T	0.34378	-0.9831	10	0.35671	T	0.21	-11.3685	14.979	0.71299	0.0:0.9316:0.0:0.0684	.	361;410	G5E955;Q9H0S4	.;DDX47_HUMAN	V	361;410	ENSP00000319578:A361V;ENSP00000350698:A410V	ENSP00000319578:A361V	A	+	2	0	DDX47	12871569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.531000	0.81973	1.435000	0.47434	0.655000	0.94253	GCC		0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		6	934	0	0	0	1	0	6	934					T	12980302	C	T	12980302	3	4	65	1	0	0	0	0	1	0	0	0	4376	739	26	2	1271	2	DDX47	12	12980302	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	9330515	12980302	120871593	123	7846											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		27	84	0	0	0	1	0	27	84					T	25398284	C	T	25398284	3	4	65	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	12417982	25398284	108453611	124	7847											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		11	494						11	494	---	---	---	---	-	46318577	GGT	-	46318575	7	5	65	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-HV-A7OL-01A-11D-A33T-08	20920291	46318575	87533320	125	7848											
PFKM	5213	broad.mit.edu	37	chr12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgcagacctgtgaccGcatcaagcagtcagcagctg	11	13	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:48536575G>A	ENST00000312352.7	+	18	1703	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000340802.6_Missense_Mutation_p.R626H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	555	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1876-1878)cGc>cAc		phosphofructokinase, muscle							130	117	121					12																	48536575		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48536575G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1664G>A	12.37:g.48536575G>A	ENSP00000309438:p.Arg555His					PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H	p.R626H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			20	2101	+			555					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1877G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795504	0.90453	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	4.31	0.51392	Phosphofructokinase domain (2);	0.049858	0.85682	D	0.000000	D	0.91462	0.7305	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.953;0.933	D	0.93406	0.6764	10	0.62326	D	0.03	-12.3227	15.1275	0.72494	0.0:0.0:0.8573:0.1427	.	524;555;626	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	626;555;524;524;555;555;170	ENSP00000345771:R626H;ENSP00000352842:R555H;ENSP00000378656:R524H;ENSP00000448177:R524H;ENSP00000449426:R555H;ENSP00000309438:R555H;ENSP00000446519:R170H	ENSP00000309438:R555H	R	+	2	0	PFKM	46822842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	1.541000	0.49316	0.655000	0.94253	CGC		0.488	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		7	615	0	0	0	1	0	7	615					A	48536575	G	A	48536575	3	1	65	1	0	0	0	0	1	0	0	0	11807	1087	38	1	1951	1	PFKM	12	48536575	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2218000	48536575	85315320	126	7849											
CCNT1	904	broad.mit.edu	37	chr12	49087735	49087735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaggagattctgggcaGcatatgcatattgtgacttc	12	6	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49087735G>A	ENST00000261900.3	-	9	1484	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	421					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTCTGGGCAGCATATGCATA	0.463																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1261-1263)gCt>gTt		cyclin T1							138	144	142					12																	49087735		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087735G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1262C>T	12.37:g.49087735G>A	ENSP00000261900:p.Ala421Val						p.A421V	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1484	-			421					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1262C>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619480	0.66787	.	.	ENSG00000129315	ENST00000261900	T	0.20598	2.06	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.49126	1.545	0.58432	D	0.999998	P	0.41929	0.765	B	0.37198	0.243	T	0.03112	-1.1071	10	0.62326	D	0.03	-14.5086	18.0305	0.89282	0.0:0.0:1.0:0.0	.	421	O60563	CCNT1_HUMAN	V	421	ENSP00000261900:A421V	ENSP00000261900:A421V	A	-	2	0	CCNT1	47374002	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.377000	0.73145	2.634000	0.89283	0.561000	0.74099	GCT		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		6	800	0	0	0	1	0	6	800					A	49087735	G	A	49087735	3	1	65	1	0	0	0	0	1	0	0	0	2943	971	34	2	922	2	CCNT1	12	49087735	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	551160	49087735	84764160	127	7850											
TUBA1A	7846	broad.mit.edu	37	chr12	49579753	49579753	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaaaccaagaagccctgGagacccgtgcactggtcggc	13	12	0	2	rs1143560	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49579753G>A	ENST00000295766.5	-	4	875	c.396C>T	c.(394-396)ctC>ctT	p.L132L	TUBA1A_ENST00000550767.1_Silent_p.L97L|TUBA1A_ENST00000301071.7_Silent_p.L132L|TUBA1A_ENST00000546918.1_Missense_Mutation_p.S183F	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	132					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AGAAGCCCTGGAGACCCGTGC	0.438													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.0				Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000546918.1																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(547-549)tCc>tTc		tubulin, alpha 1a		G		3,4403	6.2+/-15.9	0,3,2200	37	39	38		396	-3.6	1	12	dbSNP_86	38	11,8589	9.1+/-34.3	0,11,4289	no	coding-synonymous	TUBA1A	NM_006009.2		0,14,6489	AA,AG,GG		0.1279,0.0681,0.1076		132/452	49579753	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579753G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.396C>T	12.37:g.49579753G>A						TUBA1A_ENST00000550767.1_Silent_p.L97L|TUBA1A_ENST00000301071.7_Silent_p.L132L|TUBA1A_ENST00000295766.5_Silent_p.L132L	p.S183F			Q71U36	TBA1A_HUMAN			3	634	-			0					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.548C>T	CCDS58227.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	2.113|2.113	-0.403319|-0.403319	0.04832|0.04832	6.81E-4|6.81E-4	0.001279|0.001279	ENSG00000167552|ENSG00000167552	ENST00000552250|ENST00000546918	.|T	.|0.63744	.|-0.06	5.09|5.09	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|T	0.33469|0.33469	0.0864|0.0864	.|.	.|.	.|.	0.27203|0.27203	N|N	0.960107|0.960107	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32107|0.32107	-0.9919|-0.9919	5|6	0.87932|0.07990	D|T	0|0.79	.|.	8.1491|8.1491	0.31130|0.31130	0.2645:0.2673:0.4682:0.0|0.2645:0.2673:0.4682:0.0	.|.	.|.	.|.	.|.	S|F	83|183	.|ENSP00000446613:S183F	ENSP00000449413:P83S|ENSP00000446613:S183F	P|S	-|-	1|2	0|0	TUBA1A|TUBA1A	47866020|47866020	0.006000|0.006000	0.16342|0.16342	0.952000|0.952000	0.39060|0.39060	0.427000|0.427000	0.31564|0.31564	-1.468000|-1.468000	0.02350|0.02350	-0.857000|-0.857000	0.04115|0.04115	-1.587000|-1.587000	0.00848|0.00848	CCA|TCC		0.438	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		6	279	0	0	0	1	0	6	279					A	49579753	G	A	49579753	2	1	65	1	0	0	0	0	0	0	0	1	16797	1161	41	2		2	TUBA1A	12	49579753	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	492018	49579753	84272142	128	7851											
DGKA	1606	broad.mit.edu	37	chr12	56347514	56347514	+	Frame_Shift_Del	DEL	C	C	-													tgcccatgctcatgggcccaCccccccgctccaccaatttc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:56347514delC	ENST00000331886.5	+	24	2624	c.2170delC	c.(2170-2172)cccfs	p.P725fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.P725fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.P725fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	725					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)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CATGGGCCCACCCCCCCGCTC	0.582																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2170-2172)ccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						100	94	96					12																	56347514		2203	4300	6503	SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347514delC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2170delC	12.37:g.56347514delC	ENSP00000328405:p.Pro725fs					DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.P725fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.P725fs	p.P725fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			24	2624	+			725					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Del	DEL	ENST00000331886.5	37	c.2170delC	CCDS8896.1																																																																																				0.582	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	613						7	613	---	---	---	---	-	56347514	C	-	56347514	7	5	65	1	0	1	0	1	0	0	0	0	4481	507	18	0	2260	0	DGKA	12	56347514	Frame_Shift_Del	DEL	C	TCGA-HV-A7OL-01A-11D-A33T-08	6767761	56347514	77504381	129	7852											
OBFC2B	79035	broad.mit.edu	37	chr12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatccccctcatactcccTcccacccacccagcacccga	2	25	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:56622875T>C	ENST00000380198.2	+	6	1012	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P|SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.S172P			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	172	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCATACTCCCTCCCACCCACC	0.597																																						ENST00000380198.2																			0											c.(514-516)Tcc>Ccc		nucleic acid binding protein 2							22	25	24					12																	56622875		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622875T>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.514T>C	12.37:g.56622875T>C	ENSP00000369545:p.Ser172Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P	p.S172P							6	1012	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.514T>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.137846	0.21123	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.30448	1.53;1.53;1.53	5.17	-1.86	0.07760	.	0.651280	0.14048	N	0.344943	T	0.12050	0.0293	N	0.15975	0.35	0.21802	N	0.99954	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	.	.	.	-13.4254	2.1112	0.03703	0.1502:0.3954:0.155:0.2994	.	172	Q9BQ15	SOSB1_HUMAN	P	172	ENSP00000267023:S172P;ENSP00000369545:S172P;ENSP00000368862:S172P	.	S	+	1	0	OBFC2B	54909142	0.001000	0.12720	0.094000	0.20943	0.304000	0.27724	-0.479000	0.06567	-0.156000	0.11079	-0.313000	0.08912	TCC		0.597	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		8	131	0	0	0	1	0	8	131					C	56622875	T	C	56622875	3	2	65	1	0	0	0	0	1	0	0	0	10851	1551	54	4	536	4	OBFC2B	12	56622875	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	275361	56622875	77229020	130	7853											
OSBPL8	114882	broad.mit.edu	37	chr12	76791663	76791663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataacttggtccagctcttTagagtaccacgaatctacag	7	11	2	1	rs35436760	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:76791663T>C	ENST00000261183.3	-	8	962	c.483A>G	c.(481-483)ctA>ctG	p.L161L	OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	161	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCAGCTCTTTAGAGTACCAC	0.363													T|||	13	0.00259585	0.0076	0.0	5008	,	,		17987	0.0		0.002	False		,,,				2504	0.001					ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(481-483)ctA>ctG		oxysterol binding protein-like 8		T	,	32,4374	36.8+/-68.6	0,32,2171	78	71	73		357,483	-4	0.9	12	dbSNP_126	73	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	OSBPL8	NM_001003712.1,NM_020841.4	,	0,36,6467	CC,CT,TT		0.0465,0.7263,0.2768	,	119/848,161/890	76791663	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76791663T>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.483A>G	12.37:g.76791663T>C						OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	p.L161L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			8	962	-			161			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.483A>G	CCDS31862.1																																																																																				0.363	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		58	224	0	0	0	1	0	58	224					C	76791663	T	C	76791663	2	2	65	1	0	0	0	0	0	0	0	1	11325	1741	61	4		4	OSBPL8	12	76791663	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	20168788	76791663	57060232	131	7854											
ANKS1B	56899	broad.mit.edu	37	chr12	99640630	99640630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggatcattgtcatcctgtCgggagaggtcatctgcaaaa	13	8	4	1	rs375089730		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:99640630C>T	ENST00000547776.2	-	13	1768	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	590						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTCATCCTGTCGGGAGAGGTC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18588	0.0		0.001	False		,,,				2504	0.0					ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1768-1770)cGa>cAa		ankyrin repeat and sterile alpha motif domain containing 1B		C	GLN/ARG	0,3774		0,0,1887	124	119	120		1769	3.3	1	12		120	1,8193		0,1,4096	no	missense	ANKS1B	NM_152788.4	43	0,1,5983	TT,TC,CC		0.0122,0.0,0.0084	benign	590/1249	99640630	1,11967	1887	4097	5984	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640630C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1769G>A	12.37:g.99640630C>T	ENSP00000449629:p.Arg590Gln					ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q	p.R590Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1768	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	590					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1769G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	0.986	-0.695588	0.03279	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.58358	1.15;0.34;1.16;1.06	5.76	3.26	0.37387	.	0.838349	0.10666	N	0.648107	T	0.23289	0.0563	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11966	-1.0566	9	.	.	.	-5.1323	5.7192	0.17978	0.1489:0.0808:0.0:0.7703	.	556;170;590	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Q	590;170;590;169;556	ENSP00000449629:R590Q;ENSP00000448512:R170Q;ENSP00000331381:R590Q;ENSP00000449894:R556Q	.	R	-	2	0	ANKS1B	98164761	0.847000	0.29606	0.995000	0.50966	0.026000	0.11368	0.765000	0.26546	1.124000	0.41980	-0.238000	0.12139	CGA		0.468	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		157	677	0	0	0	1	0	157	677					T	99640630	C	T	99640630	3	4	65	1	0	0	0	0	1	0	0	0	689	884	31	1	2321	1	ANKS1B	12	99640630	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	22848967	99640630	34211265	132	7855											
CUX2	23316	broad.mit.edu	37	chr12	111758041	111758041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaacggggccccggCcttggtgaagcaggaggagg	19	10	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:111758041C>A	ENST00000261726.6	+	17	2382	c.2228C>A	c.(2227-2229)gCc>gAc	p.A743D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	743					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGCCCCGGCCTTGGTGAAG	0.756																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2227-2229)gCc>gAc		cut-like homeobox 2							4	6	6					12																	111758041		1429	3326	4755	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758041C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2228C>A	12.37:g.111758041C>A	ENSP00000261726:p.Ala743Asp						p.A743D	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2382	+			743					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2228C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316955	0.23908	.	.	ENSG00000111249	ENST00000261726	T	0.49432	0.78	4.22	4.22	0.49857	.	0.488256	0.23708	N	0.045351	T	0.34308	0.0893	L	0.36672	1.1	0.25926	N	0.983054	B	0.20052	0.041	B	0.16289	0.015	T	0.21109	-1.0255	10	0.52906	T	0.07	-3.2681	6.6322	0.22863	0.1789:0.7291:0.0:0.092	.	743	O14529	CUX2_HUMAN	D	743	ENSP00000261726:A743D	ENSP00000261726:A743D	A	+	2	0	CUX2	110242424	0.985000	0.35326	0.297000	0.24988	0.186000	0.23388	3.416000	0.52707	1.909000	0.55274	0.485000	0.47835	GCC		0.756	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	59	1	0	7.03913e-09	1	7.52458e-09	12	59					A	111758041	C	A	111758041	3	1	65	1	0	0	0	0	1	0	0	0	4076	739	26	3	2294	3	CUX2	12	111758041	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	12117411	111758041	22093854	133	7856											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	932	0	0	0	1	0	6	932					A	123780522	G	A	123780522	3	1	65	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	12022481	123780522	10071373	134	7857											
GPR133	283383	broad.mit.edu	37	chr12	131487822	131487822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcacgccccaggtcacCgtggagggctcctctgccat	13	16	2	0	rs549833008		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.0		0.001	False		,,,				2504	0.0					ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1117-1119)acC>acT		G protein-coupled receptor 133							91	76	81					12																	131487822		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487822C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1119C>T	12.37:g.131487822C>T						GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T	p.T373T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1678	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		373					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1119C>T	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		92	354	0	0	0	1	0	92	354					T	131487822	C	T	131487822	2	4	65	1	0	0	0	0	0	0	0	1	6672	639	23	1		1	GPR133	12	131487822	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7707300	131487822	2364073	135	7858											
RNF17	56163	broad.mit.edu	37	chr13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattccttctcatcttatgCggtatccagctcgagccata	6	12	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	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)			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)		TCATCTTATGCGGTATCCAGC	0.403																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4612-4614)Cgg>Tgg		ring finger protein 17							79	82	81					13																	25451163		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.chr13:25451163C>T	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.4612C>T	13.37:g.25451163C>T	ENSP00000255324:p.Arg1538Trp					RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W	p.R1538W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4664	+		Lung SC(185;0.0225)|Breast(139;0.077)	1538			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4612C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149514	0.57151	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09911	2.93;2.93;2.93	5.66	2.7	0.31948	Tudor subgroup (1);Maternal tudor protein (1);	0.524360	0.17164	N	0.184547	T	0.15003	0.0362	L	0.29908	0.895	0.80722	D	1	D;D;B;D	0.76494	0.998;0.98;0.023;0.999	P;P;B;P	0.56916	0.663;0.72;0.004;0.809	T	0.03148	-1.1067	10	0.72032	D	0.01	-0.586	9.3923	0.38381	0.271:0.6531:0.0:0.0759	.	1534;548;1532;1538	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	W	1538;1496;548	ENSP00000255324:R1538W;ENSP00000371346:R1496W;ENSP00000344776:R548W	ENSP00000255324:R1538W	R	+	1	2	RNF17	24349163	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	1.157000	0.31724	1.384000	0.46424	0.555000	0.69702	CGG		0.403	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		6	560	0	0	0	1	0	6	560					T	25451163	C	T	25451163	3	4	65	1	0	0	0	0	1	0	0	0	13511	759	27	1	4746	1	RNF17	13	25451163	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		25451163	89718715	136	7859											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	639						9	639	---	---	---	---	T	60582734	-	T	60582733	7	5	65	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	35131570	60582733	54587145	137	7860											
IRS2	8660	broad.mit.edu	37	chr13	110434482	110434482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgggacccggcccccCgcacccgccgccggtgctgc	14	22	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:110434482C>T	ENST00000375856.3	-	1	4433	c.3919G>A	c.(3919-3921)Ggg>Agg	p.G1307R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1307					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCGGCCCCCCGCACCCGCCG	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3919-3921)Ggg>Agg		insulin receptor substrate 2							7	11	10					13																	110434482		2019	4064	6083	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434482C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3919G>A	13.37:g.110434482C>T	ENSP00000365016:p.Gly1307Arg						p.G1307R	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4433	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1307					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3919G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464796	0.26335	.	.	ENSG00000185950	ENST00000375856	T	0.59906	0.23	4.12	3.25	0.37280	.	0.226724	0.22451	U	0.059897	T	0.35128	0.0921	N	0.24115	0.695	0.09310	N	0.999996	P	0.42961	0.795	B	0.28709	0.093	T	0.19257	-1.0311	10	0.51188	T	0.08	-15.5233	10.7615	0.46268	0.1915:0.8085:0.0:0.0	.	1307	Q9Y4H2	IRS2_HUMAN	R	1307	ENSP00000365016:G1307R	ENSP00000365016:G1307R	G	-	1	0	IRS2	109232483	0.998000	0.40836	0.189000	0.23252	0.049000	0.14656	1.090000	0.30902	0.910000	0.36722	0.462000	0.41574	GGG		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		24	107	0	0	0	1	0	24	107					T	110434482	C	T	110434482	3	4	65	1	0	0	0	0	1	0	0	0	7871	652	23	1	105	1	IRS2	13	110434482	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	49851749	110434482	4735396	138	7861											
POTEM	641455	broad.mit.edu	37	chr14	20019883	20019883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcccactttgctcttgCcgctccccctgcagcagggg	13	16	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:20019883C>T	ENST00000551509.1	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	113										endometrium(4)|kidney(1)|lung(4)	9						TTTGCTCTTGCCGCTCCCCCT	0.602																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(337-339)gGc>gAc		POTE ankyrin domain family, member M							38	47	45					14																	20019883		306	1012	1318	SO:0001583	missense	641455							g.chr14:20019883C>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.338G>A	14.37:g.20019883C>T	ENSP00000452296:p.Gly113Asp						p.G113D	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	389	-			113						Missense_Mutation	SNP	ENST00000551509.1	37	c.338G>A	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	c	6.643	0.487210	0.12641	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28895	1.59	0.553	0.553	0.17235	.	.	.	.	.	T	0.29458	0.0734	L	0.58101	1.795	0.09310	N	1	P	0.47253	0.892	B	0.43575	0.424	T	0.14420	-1.0473	7	.	.	.	.	.	.	.	.	113	A6NI47	POTEM_HUMAN	D	113	ENSP00000452296:G113D	.	G	-	2	0	POTEM	19089883	0.000000	0.05858	0.011000	0.14972	0.102000	0.19082	-0.603000	0.05674	0.610000	0.30035	0.064000	0.15345	GGC		0.602	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		6	963	0	0	0	1	0	6	963					T	20019883	C	T	20019883	3	4	65	1	0	0	0	0	1	0	0	0	12310	739	26	2	1228	2	POTEM	14	20019883	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		20019883	87329657	139	7862											
YLPM1	56252	broad.mit.edu	37	chr14	75230759	75230759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcctcctgctcagccGtccccttcgcagtccccacc	6	22	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:75230759G>A	ENST00000552421.1	+	1	691	c.567G>A	c.(565-567)ccG>ccA	p.P189P	YLPM1_ENST00000325680.7_Silent_p.P189P|YLPM1_ENST00000238571.3_Silent_p.P189P			P49750	YLPM1_HUMAN	YLP motif containing 1	189	Pro-rich.				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)			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)		CTGCTCAGCCGTCCCCTTCGC	0.597																																						ENST00000325680.7																			0				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						c.(565-567)ccG>ccA		YLP motif containing 1							69	77	74					14																	75230759		2073	4196	6269	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230759G>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.567G>A	14.37:g.75230759G>A						YLPM1_ENST00000238571.3_Silent_p.P189P|YLPM1_ENST00000552421.1_Silent_p.P189P	p.P189P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	691	+			32			Pro-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.567G>A																																																																																					0.597	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		5	461	0	0	0	1	0	5	461					A	75230759	G	A	75230759	2	1	65	1	0	0	0	0	0	0	0	1	17540	1132	40	1		1	YLPM1	14	75230759	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	55210876	75230759	32118781	140	7863											
VIPAR	63894	broad.mit.edu	37	chr14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccctcgtgggttgagCcgctattaccagcagtctct	10	15	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259	204	222					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		7	830	0	0	0	1	0	7	830					T	77917637	C	T	77917637	3	4	65	1	0	0	0	0	1	0	0	0	17222	739	26	2	1313	2	VIPAR	14	77917637	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2686878	77917637	29431903	141	7864											
STON2	85439	broad.mit.edu	37	chr14	81743580	81743580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattgacacttgtggccGtcctgagtgtgaaaggcaag	12	11	0	3	rs201379766		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:81743580G>A	ENST00000267540.2	-	4	2275	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.T692M	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	692	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTGTGGCCGTCCTGAGTGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20808	0.0		0.0	False		,,,				2504	0.001					ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2074-2076)aCg>aTg		stonin 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	114	115		2075	6.1	1	14		115	0,8600		0,0,4300	yes	missense	STON2	NM_033104.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	692/906	81743580	1,13005	2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743580G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2075C>T	14.37:g.81743580G>A	ENSP00000267540:p.Thr692Met					STON2_ENST00000267540.2_Missense_Mutation_p.T692M	p.T692M	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2487	-			692			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2075C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572943	0.45798	2.27E-4	0.0	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19105	2.17;2.17	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.65498	2.005	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.27054	-1.0085	10	0.87932	D	0	-17.0297	14.7345	0.69406	0.0685:0.0:0.9315:0.0	.	692;692	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	692;704;692	ENSP00000450857:T692M;ENSP00000267540:T692M	ENSP00000267540:T692M	T	-	2	0	STON2	80813333	1.000000	0.71417	0.972000	0.41901	0.371000	0.29859	8.029000	0.88807	2.879000	0.98667	0.650000	0.86243	ACG		0.557	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		6	714	0	0	0	1	0	6	714					A	81743580	G	A	81743580	3	1	65	1	0	0	0	0	1	0	0	0	15370	1145	40	1	648	1	STON2	14	81743580	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3825943	81743580	25605960	142	7865											
LGMN	5641	broad.mit.edu	37	chr14	93199026	93199026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataccagccatttgaacCtgccacgatcaccacccagt	5	15	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:93199026C>T	ENST00000393218.2	-	3	443	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	36					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCATTTGAACCTGCCACGATC	0.443																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(106-108)Ggt>Agt		legumain							163	152	156					14																	93199026		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93199026C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.106G>A	14.37:g.93199026C>T	ENSP00000376911:p.Gly36Ser					LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S	p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	3	443	-		all_cancers(154;0.0706)	36					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.106G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832172	0.71258	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919;ENST00000554080;ENST00000553371	T;T;T;T;T;T;T;T;T	0.72942	0.48;0.4;0.52;0.4;0.51;0.38;0.38;-0.34;-0.7	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.996	D	0.90096	0.4181	10	0.62326	D	0.03	-23.6576	16.0812	0.81005	0.0:1.0:0.0:0.0	.	36;36;36	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	S	36;36;36;36;36;36;13;36;36;36;36;36;36	ENSP00000451861:G36S;ENSP00000334052:G36S;ENSP00000452572:G36S;ENSP00000376911:G36S;ENSP00000450854:G36S;ENSP00000450677:G36S;ENSP00000451916:G36S;ENSP00000452268:G36S;ENSP00000451797:G36S	ENSP00000262004:G36S	G	-	1	0	LGMN	92268779	1.000000	0.71417	0.146000	0.22360	0.387000	0.30353	6.348000	0.73009	2.086000	0.62901	0.313000	0.20887	GGT		0.443	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		8	981	0	0	0	1	0	8	981					T	93199026	C	T	93199026	3	4	65	1	0	0	0	0	1	0	0	0	8787	681	24	2	1247	2	LGMN	14	93199026	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	11455446	93199026	14150514	143	7866											
GABRA5	2558	broad.mit.edu	37	chr15	27128316	27128316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctgtctttcagagcGcatcactcaggtgaggaccg	12	11	5	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:27128316G>A	ENST00000335625.5	+	5	1100	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTTTCAGAGCGCATCACTCAG	0.612																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(211-213)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						70	80	77					15																	27128316		2147	4228	6375	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128316G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.212G>A	15.37:g.27128316G>A	ENSP00000335592:p.Arg71His					GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000557449.1_Intron	p.R71H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	1100	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	71					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.212G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426900	0.83667	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.13;-1.26;-1.26;-1.26	5.39	4.47	0.54385	Neurotransmitter-gated ion-channel ligand-binding (3);	0.318671	0.37857	N	0.001907	T	0.81054	0.4743	L	0.55481	1.735	0.36586	D	0.873815	D	0.58268	0.982	P	0.54372	0.75	D	0.86010	0.1500	10	0.72032	D	0.01	.	13.2492	0.60041	0.0765:0.0:0.9235:0.0	.	71	P31644	GBRA5_HUMAN	H	71;71;39;71;71;71;71;39	ENSP00000335592:R71H;ENSP00000347557:R71H;ENSP00000450653:R39H;ENSP00000382953:R71H;ENSP00000451527:R71H;ENSP00000450806:R71H;ENSP00000450717:R71H;ENSP00000450529:R39H	ENSP00000335592:R71H	R	+	2	0	GABRA5	24679409	0.996000	0.38824	0.989000	0.46669	0.806000	0.45545	3.505000	0.53356	1.405000	0.46838	0.555000	0.69702	CGC		0.612	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			4	223	0	0	0	1	0	4	223					A	27128316	G	A	27128316	3	1	65	1	0	0	0	0	1	0	0	0	6191	1087	38	1	222	1	GABRA5	15	27128316	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		27128316	75403076	144	7867											
RYR3	6263	broad.mit.edu	37	chr15	33954961	33954961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttgatgatgatgatgttCggcagatcctcctcctgatt	10	8	0	6	rs371562140		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:33954961C>T	ENST00000389232.4	+	35	5300	c.5230C>T	c.(5230-5232)Cgg>Tgg	p.R1744W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1744	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.R1744R(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)		TGATGATGTTCGGCAGATCCT	0.552																																						ENST00000389232.4																			1	Substitution - coding silent(1)	p.R1744R(1)	lung(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						c.(5230-5232)Cgg>Tgg		ryanodine receptor 3		T	TRP/ARG	1,4261		0,1,2130	131	139	136		5230	3.5	0.9	15		136	0,8502		0,0,4251	no	missense	RYR3	NM_001036.3	101	0,1,6381	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging	1744/4871	33954961	1,12763	2131	4251	6382	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954961C>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.5230C>T	15.37:g.33954961C>T	ENSP00000373884:p.Arg1744Trp					RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5300	+		all_lung(180;7.18e-09)	1744			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5230C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720660	0.48728	2.35E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74421	-0.84;-0.84	5.41	3.54	0.40534	.	0.359807	0.23604	N	0.046403	T	0.74030	0.3663	L	0.38175	1.15	0.09310	N	0.999998	D;D	0.61697	0.988;0.99	P;P	0.57502	0.766;0.822	T	0.65030	-0.6267	10	0.87932	D	0	.	8.8635	0.35272	0.3151:0.6124:0.0:0.0724	.	1744;1744	Q15413-2;Q15413	.;RYR3_HUMAN	W	1744	ENSP00000373884:R1744W;ENSP00000399610:R1744W	ENSP00000354735:R1744W	R	+	1	2	RYR3	31742253	0.938000	0.31826	0.868000	0.34077	0.894000	0.52154	1.918000	0.40006	0.862000	0.35528	-0.119000	0.15052	CGG		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			63	331	0	0	0	1	0	63	331					T	33954961	C	T	33954961	3	4	65	1	0	0	0	0	1	0	0	0	13820	875	31	1	5368	1	RYR3	15	33954961	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6826645	33954961	68576431	145	7868											
RYR3	6263	broad.mit.edu	37	chr15	34130099	34130099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagctgatgagaatgacaTgtttaattacgttgattttg	10	3	0	5			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:34130099T>C	ENST00000389232.4	+	89	11988	c.11918T>C	c.(11917-11919)aTg>aCg	p.M3973T	RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3973					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)			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)		GAGAATGACATGTTTAATTAC	0.428																																						ENST00000389232.4																			0				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						c.(11917-11919)aTg>aCg		ryanodine receptor 3							138	137	138					15																	34130099		1962	4145	6107	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130099T>C		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.11918T>C	15.37:g.34130099T>C	ENSP00000373884:p.Met3973Thr					RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	p.M3973T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11988	+		all_lung(180;7.18e-09)	3973					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11918T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109599	0.37242	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.81739	-1.53	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	N	0.12831	0.26	0.53005	D	0.99996	P;B	0.52316	0.952;0.012	P;B	0.54499	0.754;0.014	T	0.76389	-0.2977	10	0.30854	T	0.27	.	15.5941	0.76566	0.0:0.0:0.0:1.0	.	3968;3973	Q15413-2;Q15413	.;RYR3_HUMAN	T	3973;3969	ENSP00000373884:M3973T	ENSP00000354735:M3969T	M	+	2	0	RYR3	31917391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.272000	0.75746	0.450000	0.29827	ATG		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			142	572	0	0	0	1	0	142	572					C	34130099	T	C	34130099	3	2	65	1	0	0	0	0	1	0	0	0	13820	1464	51	4	12272	4	RYR3	15	34130099	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	175138	34130099	68401293	146	7869											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		8	402						8	402	---	---	---	---	T	41029894	-	T	41029893	7	5	65	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	6899794	41029893	61501499	147	7870											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		10	178						10	178	---	---	---	---	-	65943130	GAG	-	65943128	7	5	65	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-HV-A7OL-01A-11D-A33T-08	24913235	65943128	36588264	148	7871											
MYO9A	4649	broad.mit.edu	37	chr15	72338352	72338352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgaatgggttaataaCtattagaatactgccaacat	6	6	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:72338352C>T	ENST00000356056.5	-	2	1025	c.553G>A	c.(553-555)Gtt>Att	p.V185I	MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	185	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)			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						GGGTTAATAACTATTAGAATA	0.328																																						ENST00000356056.5																			0				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						c.(553-555)Gtt>Att		myosin IXA							64	68	67					15																	72338352		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.chr15:72338352C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.553G>A	15.37:g.72338352C>T	ENSP00000348349:p.Val185Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I	p.V185I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1025	-			185			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.553G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.825008	0.71143	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88201	-2.35;-2.35;-2.35	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.89037	0.6601	L	0.52573	1.65	0.50171	D	0.999851	P;B;B	0.35139	0.486;0.38;0.268	B;B;B	0.39339	0.268;0.197;0.297	D	0.88674	0.3197	9	0.87932	D	0	.	20.1223	0.97967	0.0:1.0:0.0:0.0	.	185;185;185	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	185	ENSP00000348349:V185I;ENSP00000399162:V185I;ENSP00000398250:V185I	ENSP00000261864:V185I	V	-	1	0	MYO9A	70125406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.749000	0.94314	0.650000	0.86243	GTT		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		81	332	0	0	0	1	0	81	332					T	72338352	C	T	72338352	3	4	65	1	0	0	0	0	1	0	0	0	10125	565	20	2	7257	2	MYO9A	15	72338352	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6395224	72338352	30193040	149	7872											
WDR90	197335	broad.mit.edu	37	chr16	703653	703653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccggagcccaatgcaCgttgtctgctctctcaggtg	11	13	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:703653C>T	ENST00000293879.4	+	12	1362	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	WDR90_ENST00000549091.1_Silent_p.H454H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	454										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCAATGCACGTTGTCTGCT	0.637																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1360-1362)caC>caT		WD repeat domain 90							54	60	58					16																	703653		2069	4192	6261	SO:0001819	synonymous_variant	197335							g.chr16:703653C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1362C>T	16.37:g.703653C>T						WDR90_ENST00000293879.4_Silent_p.H454H	p.H454H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			12	1454	+		Hepatocellular(780;0.0218)	454					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1362C>T	CCDS42092.1																																																																																				0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		68	252	0	0	0	1	0	68	252					T	703653	C	T	703653	2	4	65	1	0	0	0	0	0	0	0	1	17391	535	19	1		1	WDR90	16	703653	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		703653	89651100	150	7873											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	541						8	541	---	---	---	---	-	1824300	TGC	-	1824298	7	5	65	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-HV-A7OL-01A-11D-A33T-08	1120645	1824298	88530455	151	7874											
TBL3	10607	broad.mit.edu	37	chr16	2024605	2024605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagagggcagcgttaccCgcctgtggaaggcgatacac	15	11	0	1	rs573127986		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:2024605C>T	ENST00000568546.1	+	5	432	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGCGTTACCCGCCTGTGGAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0				Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(304-306)Cgc>Tgc		transducin (beta)-like 3							30	33	32					16																	2024605		2198	4298	6496	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024605C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.304C>T	16.37:g.2024605C>T	ENSP00000454836:p.Arg102Cys						p.R102C	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			5	432	+			102					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.304C>T	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674507	0.29693	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.53642	0.1809	M	0.86651	2.83	0.80722	D	1	P	0.42757	0.789	B	0.25614	0.062	T	0.60949	-0.7161	9	0.72032	D	0.01	-15.7473	10.7503	0.46205	0.0:0.8435:0.0:0.1565	.	102	Q12788	TBL3_HUMAN	C	102	.	ENSP00000331815:R102C	R	+	1	0	TBL3	1964606	0.998000	0.40836	0.556000	0.28293	0.678000	0.39670	3.772000	0.55325	0.505000	0.28104	-0.291000	0.09656	CGC		0.672	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		51	196	0	0	0	1	0	51	196					T	2024605	C	T	2024605	3	4	65	1	0	0	0	0	1	0	0	0	15695	652	23	1	322	1	TBL3	16	2024605	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	200307	2024605	88330148	152	7875											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	1242	0	0	0	1	0	7	1242					T	3293588	C	T	3293588	2	4	65	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1268983	3293588	87061165	153	7876											
CREBBP	1387	broad.mit.edu	37	chr16	3801767	3801767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacccagggtcacattctCgccctggatctctgtgaaac	9	14	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3801767C>T	ENST00000262367.5	-	20	4548	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1247	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCACATTCTCGCCCTGGATC	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3739-3741)Gag>Aag		CREB binding protein							276	193	221					16																	3801767		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3801767C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3739G>A	16.37:g.3801767C>T	ENSP00000262367:p.Glu1247Lys					CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	p.E1247K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	20	4548	-		Ovarian(90;0.0266)	1247			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3739G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303906	0.60305	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83992	-1.79;-1.71	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.75539	0.3863	L	0.42487	1.325	0.53688	D	0.999978	P;P	0.44195	0.828;0.828	B;B	0.28991	0.097;0.097	T	0.78703	-0.2101	10	0.46703	T	0.11	-29.1663	19.3082	0.94173	0.0:1.0:0.0:0.0	.	1277;1247	Q4LE28;Q92793	.;CBP_HUMAN	K	1247;1277;1209	ENSP00000262367:E1247K;ENSP00000371502:E1209K	ENSP00000262367:E1247K	E	-	1	0	CREBBP	3741768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.577000	0.67444	2.539000	0.85634	0.655000	0.94253	GAG		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		50	202	0	0	0	1	0	50	202					T	3801767	C	T	3801767	3	4	65	1	0	0	0	0	1	0	0	0	3870	893	31	1	3637	1	CREBBP	16	3801767	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	508179	3801767	86552986	154	7877											
C16orf71	146562	broad.mit.edu	37	chr16	4787893	4787893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctggctgaagatcctgcCgatggcgacaagtccagggc	15	11	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:4787893C>A	ENST00000299320.5	+	3	700	c.222C>A	c.(220-222)gcC>gcA	p.A74A	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	74										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGATCCTGCCGATGGCGACA	0.572																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(220-222)gcC>gcA		chromosome 16 open reading frame 71							72	69	70					16																	4787893		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4787893C>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.222C>A	16.37:g.4787893C>A						RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A	p.A74A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	700	+			74					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.222C>A	CCDS10521.1																																																																																				0.572	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		5	345	1	0	1	1	1	5	345					A	4787893	C	A	4787893	2	1	65	1	0	0	0	0	0	0	0	1	1835	639	23	3		3	C16orf71	16	4787893	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	986126	4787893	85566860	155	7878											
NAGPA	51172	broad.mit.edu	37	chr16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-													cgtgtgcagtcccgggggagGcgcgcgcgcgcgcgtggata							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	ALG1_ENST00000588623.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		7	165						7	165	---	---	---	---	-	5083679	GC	-	5083678	7	5	65	1	0	1	0	1	0	0	0	0	10185	1190	42	0	1445	0	NAGPA	16	5083678	Frame_Shift_Del	DEL	GC	TCGA-HV-A7OL-01A-11D-A33T-08	295785	5083678	85271075	156	7879											
FAM18A	780776	broad.mit.edu	37	chr16	10867202	10867203	+	Frame_Shift_Ins	INS	-	-	A													ttcaaggaaaataaggtgctINSaaaaaaaaacacaatccata							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:10867202_10867203insA	ENST00000299866.8	-	5	711_712	c.420_421insT	c.(418-423)tttagcfs	p.S141fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	141						integral component of membrane (GO:0016021)											AATAAGGTGCTAAAAAAAAACA	0.446																																						ENST00000299866.8																			0											c.(418-423)ttgcacfs		trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)				2,3608		1,0,1804						4.6	1			74	4,7846		0,4,3921	no	frameshift	FAM18A	NM_001079512.2		1,4,5725	A1A1,A1R,RR		0.051,0.0554,0.0524				6,11454				SO:0001589	frameshift_variant	780776							g.chr16:10867202_10867203insA		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.421dupT	16.37:g.10867211_10867211dupA	ENSP00000299866:p.Ser141fs					TVP23A_ENST00000572980.1_5'UTR	p.LH140fs	NM_001079512.2	NP_001072980.1					5	711_712	-								B2RUV4|B7ZW18	Frame_Shift_Ins	INS	ENST00000299866.8	37	c.420_421insT	CCDS45408.1																																																																																				0.446	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		12	322						12	322	---	---	---	---	A	10867203	-	A	10867202	7	5	65	1	0	1	1	0	0	0	0	0	5539	1522	53	0	232	0	FAM18A	16	10867202	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	5783524	10867202	79487551	157	7880											
NPIP	9284	broad.mit.edu	37	chr16	15045828	15045829	+	Frame_Shift_Del	DEL	GT	GT	-													aatctcaagacacctcccgaGtgtgtctgctcactcccctt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:15045828_15045829delGT	ENST00000328085.6	+	8	999_1000	c.999_1000delGT	c.(997-1002)gagtgtfs	p.C334fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	334	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CACCTCCCGAGTGTGTCTGCTC	0.455																																						ENST00000328085.6																			0											c.(997-1002)gagtfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045828_15045829delGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.999_1000delGT	16.37:g.15045832_15045833delGT	ENSP00000331843:p.Cys334fs					NPIPA1_ENST00000472413.1_3'UTR	p.EC333fs	NM_006985.2	NP_008916.2					8	999_1000	+								O15102	Frame_Shift_Del	DEL	ENST00000328085.6	37	c.999_1000delGT	CCDS10557.1																																																																																				0.455	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		8	1228						8	1228	---	---	---	---	-	15045829	GT	-	15045828	7	5	65	1	0	1	0	1	0	0	0	0	10626	1020	36	0	1029	0	NPIP	16	15045828	Frame_Shift_Del	DEL	GT	TCGA-HV-A7OL-01A-11D-A33T-08	4178626	15045828	75308925	158	7881											
DNAH3	55567	broad.mit.edu	37	chr16	20976524	20976524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttggccacgcgatcGtacacctccatggccctcac	7	19	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:20976524G>A	ENST00000261383.3	-	53	8681	c.8682C>T	c.(8680-8682)taC>taT	p.Y2894Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2894	Stalk. {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)			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)		CCACGCGATCGTACACCTCCA	0.562																																						ENST00000261383.3																			0				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						c.(8680-8682)taC>taT		dynein, axonemal, heavy chain 3							118	108	111					16																	20976524		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976524G>A	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.8682C>T	16.37:g.20976524G>A						DNAH3_ENST00000415178.1_3'UTR	p.Y2894Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8681	-			2894			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8682C>T	CCDS10594.1																																																																																				0.562	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		146	656	0	0	0	1	0	146	656					A	20976524	G	A	20976524	2	1	65	1	0	0	0	0	0	0	0	1	4619	1140	40	1		1	DNAH3	16	20976524	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	5930696	20976524	69378229	159	7882											
ATP2A1	487	broad.mit.edu	37	chr16	28912189	28912189	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagccctcgcacaaGtccaagattgtggagtacct	12	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:28912189G>C	ENST00000357084.3	+	15	2319	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N|ATP2A1_ENST00000395503.4_Missense_Mutation_p.K684N	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	684					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCGCACAAGTCCAAGATTG	0.627																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2050-2052)aaG>aaC		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							76	69	71					16																	28912189		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28912189G>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2052G>C	16.37:g.28912189G>C	ENSP00000349595:p.Lys684Asn					ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.K684N	p.K684N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			15	2236	+			684					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2052G>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296086	0.81025	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99769	-6.7;-6.7;-6.7	5.4	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.99783	4.775	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96211	0.9153	10	0.87932	D	0	.	13.0151	0.58753	0.0797:0.0:0.9203:0.0	.	559;684;684	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	N	684;684;721;559	ENSP00000349595:K684N;ENSP00000378879:K684N;ENSP00000443101:K559N	ENSP00000349595:K684N	K	+	3	2	ATP2A1	28819690	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.048000	0.57390	1.278000	0.44430	0.555000	0.69702	AAG		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		4	386	0	0	0	1	0	4	386					C	28912189	G	C	28912189	3	2	65	1	0	0	0	0	1	0	0	0	1137	1020	36	5	2110	5	ATP2A1	16	28912189	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7935665	28912189	61442564	160	7883											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	458						7	458	---	---	---	---	-	67913769	CAG	-	67913767	7	5	65	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HV-A7OL-01A-11D-A33T-08	39001578	67913767	22440986	161	7884											
PRPF8	10594	broad.mit.edu	37	chr17	1576724	1576724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcacttaggcaggatgCggcactcgaagccacacatg	13	12	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:1576724C>T	ENST00000572621.1	-	22	3849	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1195	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCAGGATGCGGCACTCGAA	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3583-3585)cGc>cAc		pre-mRNA processing factor 8							141	111	121					17																	1576724		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576724C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3584G>A	17.37:g.1576724C>T	ENSP00000460348:p.Arg1195His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H	p.R1195H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	22	3849	-			1195					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3584G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548538	0.96488	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95669	0.8722	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1195	Q6P2Q9	PRP8_HUMAN	H	1195	ENSP00000304350:R1195H	ENSP00000304350:R1195H	R	-	2	0	PRPF8	1523474	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.814000	0.86154	2.879000	0.98667	0.650000	0.86243	CGC		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	305	0	0	0	1	0	5	305					T	1576724	C	T	1576724	3	4	65	1	0	0	0	0	1	0	0	0	12622	768	27	1	3507	1	PRPF8	17	1576724	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		1576724	79618486	162	7885											
TP53	7157	broad.mit.edu	37	chr17	7578538	7578538	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggcaaaacatcttgTtgagggcaggggagtactgt	14	7	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7578538T>A	ENST00000269305.4	-	5	581	c.392A>T	c.(391-393)aAc>aTc	p.N131I	TP53_ENST00000420246.2_Missense_Mutation_p.N131I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I	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	131	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)	AAACATCTTGTTGAGGGCAGG	0.557		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)	ENST00000420246.2		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"		47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)	breast(8)|central_nervous_system(7)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|liver(4)|lung(3)|adrenal_gland(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|stomach(1)|biliary_tract(1)|pancreas(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						c.(391-393)aAc>aTc	Other conserved DNA damage response genes	tumor protein p53							46	46	46					17																	7578538		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578538T>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.392A>T	17.37:g.7578538T>A	ENSP00000269305:p.Asn131Ile	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_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_Missense_Mutation_p.N131I	p.N131I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	524	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	131		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.392A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405466	0.83230	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.48	5.48	0.80851	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	0.99757	0.9902	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.998;0.992;0.974;0.999;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-30.8858	13.8301	0.63375	0.0:0.0:0.0:1.0	.	92;131;131;38;131;131;131	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	131;131;131;131;131;131;120;38;38;131	ENSP00000410739:N131I;ENSP00000352610:N131I;ENSP00000269305:N131I;ENSP00000398846:N131I;ENSP00000391127:N131I;ENSP00000391478:N131I;ENSP00000423862:N38I;ENSP00000424104:N131I	ENSP00000269305:N131I	N	-	2	0	TP53	7519263	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	123	0	0	0	1	0	47	123					A	7578538	T	A	7578538	3	1	65	1	0	0	0	0	1	0	0	0	16434	1725	60	5	906	5	TP53	17	7578538	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	6001814	7578538	73616672	163	7886											
DHRS7C	201140	broad.mit.edu	37	chr17	9684814	9684814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttgctggggtcagcCacgctgatcaaggcatcata	10	12	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000330255.5	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000571134.1_Silent_p.V84V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	84					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTCAGCCACGCTGATCA	0.552																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(250-252)gtG>gtA		dehydrogenase/reductase (SDR family) member 7C							73	80	78					17																	9684814		2031	4182	6213	SO:0001819	synonymous_variant	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684814C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.252G>A	17.37:g.9684814C>T						DHRS7C_ENST00000571134.1_Silent_p.V84V	p.V84V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			2	264	-			84					B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	c.252G>A	CCDS56020.1																																																																																				0.552	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		47	168	0	0	0	1	0	47	168					T	9684814	C	T	9684814	2	4	65	1	0	0	0	0	0	0	0	1	4513	581	21	2		2	DHRS7C	17	9684814	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2106276	9684814	71510396	164	7887											
KRT14	3861	broad.mit.edu	37	chr17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcatctcgttcagaatgCggctcaggtccacgccaggt	11	14	3	1	rs375620492		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(844-846)cGc>cAc		keratin 14		C	HIS/ARG	0,4406		0,0,2203	183	153	163		845	3	1	17		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT14	NM_000526.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	282/473	39740094	1,13005	2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740094C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.845G>A	17.37:g.39740094C>T	ENSP00000167586:p.Arg282His						p.R282H	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	931	-		Breast(137;0.000307)	282			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.845G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195700	0.58126	0.0	1.16E-4	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.04	3.04	0.35103	Prefoldin (1);Filament (1);	0.000000	0.49916	D	0.000135	D	0.83649	0.5300	M	0.74546	2.27	0.29322	N	0.867318	D	0.76494	0.999	D	0.73708	0.981	T	0.76589	-0.2904	10	0.62326	D	0.03	.	4.864	0.13598	0.156:0.612:0.0:0.2321	.	282	P02533	K1C14_HUMAN	H	282	ENSP00000167586:R282H	ENSP00000167586:R282H	R	-	2	0	KRT14	36993620	0.000000	0.05858	0.997000	0.53966	0.504000	0.33889	0.450000	0.21762	1.258000	0.44101	-0.119000	0.15052	CGC		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	763	0	0	0	1	0	6	763					T	39740094	C	T	39740094	3	4	65	1	0	0	0	0	1	0	0	0	8481	768	27	1	593	1	KRT14	17	39740094	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	30055280	39740094	41455116	165	7888											
EFTUD2	9343	broad.mit.edu	37	chr17	42953434	42953434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagcctctcctgcaccGcatgcttgatcagccgctct	8	18	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42953434G>A	ENST00000426333.2	-	10	1034	c.737C>T	c.(736-738)gCg>gTg	p.A246V	EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	246	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCCTGCACCGCATGCTTGAT	0.517																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(736-738)gCg>gTg		elongation factor Tu GTP binding domain containing 2							134	118	123					17																	42953434		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953434G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.737C>T	17.37:g.42953434G>A	ENSP00000392094:p.Ala246Val					EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V	p.A246V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1034	-		Prostate(33;0.109)	246					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.737C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247992	0.95305	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.74632	-0.86;-0.86	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.957	D	0.91833	0.5477	10	0.87932	D	0	-9.0248	18.401	0.90516	0.0:0.0:1.0:0.0	.	236;246	B4DMC0;Q15029	.;U5S1_HUMAN	V	246;236;211	ENSP00000392094:A246V;ENSP00000385873:A211V	ENSP00000262414:A236V	A	-	2	0	EFTUD2	40308960	1.000000	0.71417	0.438000	0.26821	0.968000	0.65278	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCG		0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		7	778	0	0	0	1	0	7	778					A	42953434	G	A	42953434	3	1	65	1	0	0	0	0	1	0	0	0	4977	1087	38	1	2257	1	EFTUD2	17	42953434	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3213340	42953434	38241776	166	7889											
GFAP	2670	broad.mit.edu	37	chr17	42990738	42990738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgaggtctggcttggCcacgtcaagctccacatgga	14	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42990738C>T	ENST00000253408.5	-	4	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T|GFAP_ENST00000586793.1_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	227	Linker 12.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTGGCTTGGCCACGTCAAGC	0.607																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(679-681)Gcc>Acc		glial fibrillary acidic protein							92	72	79					17																	42990738		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42990738C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.679G>A	17.37:g.42990738C>T	ENSP00000253408:p.Ala227Thr					GFAP_ENST00000586793.1_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T	p.A227T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			4	744	-		Prostate(33;0.0959)	227			Linker 12.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.679G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544765	0.13312	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95853	-3.83;-3.83	4.93	2.92	0.33932	Filament (1);	0.204172	0.43110	D	0.000602	D	0.88644	0.6492	N	0.17674	0.51	0.30072	N	0.809996	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.007	T	0.82680	-0.0337	10	0.66056	D	0.02	.	4.7956	0.13270	0.4228:0.4185:0.0:0.1588	.	227;227	E9PAX3;P14136	.;GFAP_HUMAN	T	227;202;227	ENSP00000253408:A227T;ENSP00000403962:A227T	ENSP00000253408:A227T	A	-	1	0	GFAP	40346264	0.009000	0.17119	0.653000	0.29593	0.053000	0.15095	0.375000	0.20518	0.788000	0.33755	-0.181000	0.13052	GCC		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	406	0	0	0	1	0	5	406					T	42990738	C	T	42990738	3	4	65	1	0	0	0	0	1	0	0	0	6366	739	26	2	772	2	GFAP	17	42990738	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	37304	42990738	38204472	167	7890											
B4GALNT2	124872	broad.mit.edu	37	chr17	47247085	47247085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccatctccaatgtgccGcataaaggtgtgagggcata	11	9	1	2	rs199908433	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:47247085G>A	ENST00000300404.2	+	11	1755	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A480T|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A506T|RP11-708H21.4_ENST00000575159.1_lincRNA	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	566					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAATGTGCCGCATAAAGGTG	0.512													G|||	4	0.000798722	0.0008	0.0	5008	,	,		21396	0.003		0.0	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1696-1698)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 2		G	THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	61	50	54		1516,1438,1696	2.3	0	17		54	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	58,58,58	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	506/507,480/481,566/567	47247085	5,13001	2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247085G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1696G>A	17.37:g.47247085G>A	ENSP00000300404:p.Ala566Thr					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A506T|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A480T	p.A566T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1755	+			566					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1696G>A	CCDS11544.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.91	1.483184	0.26598	9.08E-4	1.16E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.27104	1.69;1.69;1.89	5.79	2.34	0.29019	.	0.735547	0.12189	N	0.491324	T	0.04182	0.0116	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38394	-0.9663	10	0.02654	T	1	.	1.6151	0.02701	0.5658:0.143:0.1537:0.1375	.	506;566	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	T	480;506;566	ENSP00000425510:A480T;ENSP00000377022:A506T;ENSP00000300404:A566T	ENSP00000300404:A566T	A	+	1	0	B4GALNT2	44602084	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.156000	0.16382	0.107000	0.17824	-1.762000	0.00668	GCA		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		4	225	0	0	0	1	0	4	225					A	47247085	G	A	47247085	3	1	65	1	0	0	0	0	1	0	0	0	1268	1087	38	1	1756	1	B4GALNT2	17	47247085	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	4256347	47247085	33948125	168	7891											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			8	268						8	268	---	---	---	---	-	48940612	GTG	-	48940610	7	5	65	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-HV-A7OL-01A-11D-A33T-08	1693525	48940610	32254600	169	7892											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-													tccctggccagcttgtcacaTgttgttgttgttgttgttgc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56056587_56056589delTGT	ENST00000581208.1	-	5	1102_1104	c.1062_1064delACA	c.(1060-1065)caacat>cat	p.Q354del	VEZF1_ENST00000584396.1_In_Frame_Del_p.Q345del	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1033-1038)cat>ca		vascular endothelial zinc finger 1				460,95,3709		10,1,439,6,82,1594						2	0.9			207	126,113,8013		0,1,125,12,88,3900	no	codingComplex	VEZF1	NM_007146.2		10,2,564,18,170,5494	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8963,13.0159,6.3439				586,208,11722				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056587_56056589delTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064delACA	17.37:g.56056596_56056598delTGT	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del	p.QH345del			Q14119	VEZF1_HUMAN			5	1123_1125	-			354			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1035_1037delACA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			42	1184						42	1184	---	---	---	---	-	56056589	TGT	-	56056587	7	5	65	1	0	1	0	1	0	0	0	0	17209	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Del	DEL	TGT	TCGA-HV-A7OL-01A-11D-A33T-08	7115977	56056587	25138623	170	7893											
RNF43	54894	broad.mit.edu	37	chr17	56448270	56448270	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagggcgaagtgtgagtctAccttgctagccagtgacagg	15	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGAGTCTACCTTGCTAGC	0.582																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.e2+1		ring finger protein 43							53	49	51					17																	56448270		2203	4300	6503	SO:0001630	splice_region_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448270A>G		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.375+1T>C	17.37:g.56448270A>G						RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA				Q68DV7	RNF43_HUMAN			2	2331	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Splice_Site	SNP	ENST00000584437.1	37		CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384458	0.82792	.	.	ENSG00000108375	ENST00000407977	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6985	0.69139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF43	53803269	1.000000	0.71417	0.997000	0.53966	0.837000	0.47467	5.913000	0.69957	2.066000	0.61787	0.533000	0.62120	.		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	Intron	116	245	0	0	0	1	0	116	245					G	56448270	A	G	56448270	5	3	65	1	0	0	0	0	0	0	1	0	13545	405	14	4	2006	4	RNF43	17	56448270	Splice_Site	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	391683	56448270	24746940	171	7894											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-													ttggacacttgggggatgggAaaaaaaatggatctggatgg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77	78	78		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	499						9	499	---	---	---	---	-	76046980	A	-	76046980	7	5	65	1	0	1	0	1	0	0	0	0	16394	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-HV-A7OL-01A-11D-A33T-08	19598710	76046980	5148230	172	7895											
THOC1	9984	broad.mit.edu	37	chr18	225118	225119	+	Frame_Shift_Ins	INS	-	-	G													tttgaaaatctttctccatcINSgggggggttttcagatagta					rs368677132		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:225118_225119insG	ENST00000261600.6	-	14	1114_1115	c.1107_1108insC	c.(1105-1110)cccgatfs	p.D370fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	370					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTCTCCATCGGGGGGGTTTT	0.386																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1105-1110)ccatggfs		THO complex 1																																				SO:0001589	frameshift_variant	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225118_225119insG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1108dupC	18.37:g.225125_225125dupG	ENSP00000261600:p.Asp370fs						p.W370fs	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			14	1114_1115	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	370					B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Ins	INS	ENST00000261600.6	37	c.1107_1108insC	CCDS45820.1																																																																																				0.386	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	56						7	56	---	---	---	---	G	225119	-	G	225118	7	5	65	1	0	1	1	0	0	0	0	0	15916	884	31	0	897	0	THOC1	18	225118	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08		225118	77852130	173	7896											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	15	6	1	2	rs190733334	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		21764	0.003		0.0	False		,,,				2504	0.0					ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(226-228)gCg>gTg		Rho GTPase activating protein 28							224	213	217					18																	6859874		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859874C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.704C>T	18.37:g.6859874C>T	ENSP00000372964:p.Ala235Val					ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V	p.A76V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			4	444	+		Colorectal(10;0.168)	58					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.227C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		6	450	0	0	0	1	0	6	450					T	6859874	C	T	6859874	3	4	65	1	0	0	0	0	1	0	0	0	877	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6634756	6859874	71217374	174	7897											
ANKRD12	23253	broad.mit.edu	37	chr18	9255365	9255365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttggaaagagaatttTtttaaaagtgatgaaactga	9	1	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:9255365T>C	ENST00000262126.4	+	9	2340	c.2100T>C	c.(2098-2100)ttT>ttC	p.F700F	ANKRD12_ENST00000383440.2_Silent_p.F677F|ANKRD12_ENST00000400020.3_Silent_p.F677F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	700						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aagagaatttttttaaaagtg	0.279																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(2029-2031)ttT>ttC		ankyrin repeat domain 12							39	44	42					18																	9255365		2108	4161	6269	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9255365T>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2100T>C	18.37:g.9255365T>C						ANKRD12_ENST00000262126.3_Silent_p.F700F|ANKRD12_ENST00000400020.3_Silent_p.F677F	p.F677F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	2288	+			700					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.2031T>C	CCDS11843.1																																																																																				0.279	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		4	206	0	0	0	1	0	4	206					C	9255365	T	C	9255365	2	2	65	1	0	0	0	0	0	0	0	1	640	1838	64	4		4	ANKRD12	18	9255365	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	2395491	9255365	68821883	175	7898											
DSC1	1823	broad.mit.edu	37	chr18	28725666	28725666	+	Frame_Shift_Del	DEL	T	T	-													atctgggatttgttgtaagaTtttatatttcagacgagtat					rs199684665		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:28725666delT	ENST00000257198.5	-	7	1108	c.847delA	c.(847-849)atcfs	p.I283fs	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Frame_Shift_Del_p.I283fs	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	283	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTTGTAAGATTTTATATTTC	0.413																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(847-849)tcfs		desmocollin 1							189	190	190					18																	28725666		2203	4300	6503	SO:0001589	frameshift_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725666delT	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.847delA	18.37:g.28725666delT	ENSP00000257198:p.Ile283fs					DSC1_ENST00000257198.5_Frame_Shift_Del_p.I283fs|RP11-408H20.2_ENST00000581836.1_RNA	p.I283fs	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1108	-			283			Cadherin 2.		Q9HB01	Frame_Shift_Del	DEL	ENST00000257198.5	37	c.847delA	CCDS11894.1																																																																																				0.413	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		95	365						95	365	---	---	---	---	-	28725666	T	-	28725666	7	5	65	1	0	1	0	1	0	0	0	0	4781	1493	52	0	1917	0	DSC1	18	28725666	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	19470301	28725666	49351582	176	7899											
ARID3A	1820	broad.mit.edu	37	chr19	964984	964984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgccaggcggggcacacGgcatgctctcctcacccaag	11	17	2	0	rs143163296		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:964984G>A	ENST00000263620.3	+	6	1429	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	368						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGGGGCACACGGCATGCTCTC	0.642																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1102-1104)Ggc>Agc		AT rich interactive domain 3A (BRIGHT-like)							66	63	64					19																	964984		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964984G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1102G>A	19.37:g.964984G>A	ENSP00000263620:p.Gly368Ser						p.G368S	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	6	1429	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	368					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.1102G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.361726	0.01235	.	.	ENSG00000116017	ENST00000263620	T	0.35236	1.32	4.44	-8.01	0.01122	.	0.462369	0.25104	N	0.033107	T	0.12860	0.0312	N	0.11201	0.11	0.18873	N	0.999989	B	0.17268	0.021	B	0.17979	0.02	T	0.25950	-1.0117	10	0.02654	T	1	-4.007	14.1794	0.65564	0.6916:0.0:0.3084:0.0	.	368	Q99856	ARI3A_HUMAN	S	368	ENSP00000263620:G368S	ENSP00000263620:G368S	G	+	1	0	ARID3A	915984	0.000000	0.05858	0.160000	0.22671	0.037000	0.13140	-0.803000	0.04540	-1.691000	0.01430	-0.993000	0.02533	GGC		0.642	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		5	452	0	0	0	1	0	5	452					A	964984	G	A	964984	3	1	65	1	0	0	0	0	1	0	0	0	916	1116	39	1	1120	1	ARID3A	19	964984	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		964984	58163999	177	7900											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_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;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	252						7	252	---	---	---	---	-	1578374	CTC	-	1578372	7	5	65	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-HV-A7OL-01A-11D-A33T-08	613388	1578372	57550611	178	7901											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		11	391						11	391	---	---	---	---	-	6531151	GCT	-	6531149	7	5	65	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-HV-A7OL-01A-11D-A33T-08	4952777	6531149	52597834	179	7902											
C3	718	broad.mit.edu	37	chr19	6714178	6714178	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctcctcctcttaccGtactccttcacctcaaactc	2	21	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6714178G>A	ENST00000245907.6	-	6	773	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	227					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCTCTTACCGTACTCCTTCA	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.e6+1		complement component 3							84	85	85					19																	6714178		2203	4300	6503	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714178G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.682+1C>T	19.37:g.6714178G>A							p.Y227_splice	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	6	773	-			227					A7E236	Splice_Site	SNP	ENST00000245907.6	37	c.682_splice	CCDS32883.1																																																																																				0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Silent	5	338	0	0	0	1	0	5	338					A	6714178	G	A	6714178	5	1	65	1	0	0	0	0	0	0	1	0	2211	1159	40	1	4454	1	C3	19	6714178	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	183029	6714178	52414805	180	7903											
RETN	56729	broad.mit.edu	37	chr19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-													gcaggatgaaagctctctgtCtcctcctcctccctgtcctg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	1027						7	1027	---	---	---	---	-	7734230	CTC	-	7734228	7	5	65	1	0	1	0	1	0	0	0	0	13286	913	32	0	18	0	RETN	19	7734228	In_Frame_Del	DEL	CTC	TCGA-HV-A7OL-01A-11D-A33T-08	1020050	7734228	51394755	181	7904											
ILF3	3609	broad.mit.edu	37	chr19	10793838	10793838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgatcctgacaaagcacgGcaagaacccagtcatggagc	11	13	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10793838G>A	ENST00000590261.1	+	13	1574	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000449870.1_Missense_Mutation_p.G529D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	525	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAGCACGGCAAGAACCCA	0.557																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1585-1587)gGc>gAc		interleukin enhancer binding factor 3, 90kDa							96	98	97					19																	10793838		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793838G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1574G>A	19.37:g.10793838G>A	ENSP00000468156:p.Gly525Asp					ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000590261.1_Missense_Mutation_p.G525D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D	p.G529D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	1903	+			525			DRBM 2.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1586G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288199	0.95517	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.18174	2.28;2.23;2.26;2.31;2.26	5.83	5.83	0.93111	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.113792	0.64402	D	0.000011	T	0.39572	0.1083	L	0.49126	1.545	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;0.998;0.999;0.999;0.176;0.992	D;D;D;D;B;P	0.91635	0.999;0.943;0.941;0.968;0.191;0.906	T	0.04467	-1.0949	10	0.87932	D	0	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	529;529;525;529;525;525	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	D	525;529;525;525;529;525	ENSP00000404121:G529D;ENSP00000315205:G525D;ENSP00000405436:G525D;ENSP00000384660:G529D;ENSP00000250241:G525D	ENSP00000250241:G525D	G	+	2	0	ILF3	10654838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.771000	0.98977	2.761000	0.94854	0.650000	0.86243	GGC		0.557	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			5	594	0	0	0	1	0	5	594					A	10793838	G	A	10793838	3	1	65	1	0	0	0	0	1	0	0	0	7742	1203	42	2	1636	2	ILF3	19	10793838	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3059610	10793838	48335145	182	7905											
UPF1	5976	broad.mit.edu	37	chr19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatcaccttgtgaggGcaaaatgcaaagaggtgacc	11	7	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.A163T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.A163T(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(487-489)Gca>Aca		UPF1 regulator of nonsense transcripts homolog (yeast)							89	88	88					19																	18960909		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960909G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.487G>A	19.37:g.18960909G>A	ENSP00000470142:p.Ala163Thr					UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			4	759	+			163			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		0.517	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	545	0	0	0	1	0	6	545					A	18960909	G	A	18960909	3	1	65	1	0	0	0	0	1	0	0	0	17057	1203	42	2	501	2	UPF1	19	18960909	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8167071	18960909	40168074	183	7906											
ZNF737	100129842	broad.mit.edu	37	chr19	20727843	20727843	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattCtcttatgtgtagtaaggtgt	9	6	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:20727843C>A	ENST00000427401.4	-	4	1260	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTATGAATTCTCTTATGTGT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1165-1167)aGa>aTa		zinc finger protein 737							58	59	59					19																	20727843		692	1590	2282	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727843C>A	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1166G>T	19.37:g.20727843C>A	ENSP00000395733:p.Arg389Ile						p.R389I	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1260	-			389					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1166G>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	4.358	0.065965	0.08388	.	.	ENSG00000237440	ENST00000427401	T	0.24908	1.83	0.801	0.801	0.18679	.	.	.	.	.	T	0.17577	0.0422	L	0.42008	1.315	0.41837	D	0.9901	B	0.14805	0.011	B	0.12156	0.007	T	0.08534	-1.0717	9	0.45353	T	0.12	.	3.2387	0.06773	0.0:0.6498:0.0:0.3502	.	389	C9JHM3	.	I	389	ENSP00000395733:R389I	ENSP00000395733:R389I	R	-	2	0	ZNF737	20519683	0.000000	0.05858	0.724000	0.30704	0.726000	0.41606	1.028000	0.30128	0.170000	0.19704	0.173000	0.16961	AGA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	111	1	0	0.000602214	1	0.000609588	4	111					A	20727843	C	A	20727843	3	1	65	1	0	0	0	0	1	0	0	0	18179	913	32	3	448	3	ZNF737	19	20727843	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1766934	20727843	38401140	184	7907											
WDR88	126248	broad.mit.edu	37	chr19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-													tgccagcagatacttcatcgTcatcatcatcatcggaaagg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	CTD-2540B15.10_ENST00000590117.1_RNA|WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527																																						ENST00000355868.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1360-1362)del		WD repeat domain 88																																				SO:0001651	inframe_deletion	126248							g.chr19:33666419_33666421delTCA	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1360_1362delTCA	19.37:g.33666428_33666430delTCA	ENSP00000348129:p.Ser458del					WDR88_ENST00000361680.2_3'UTR	p.S458del	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN			11	1436_1438	+	Esophageal squamous(110;0.137)		458			Poly-Ser.		Q8NEF8	In_Frame_Del	DEL	ENST00000355868.3	37	c.1360_1362delTCA	CCDS12429.1																																																																																				0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		9	833						9	833	---	---	---	---	-	33666421	TCA	-	33666419	7	5	65	1	0	1	0	1	0	0	0	0	17389	1667	58	0	1402	0	WDR88	19	33666419	In_Frame_Del	DEL	TCA	TCGA-HV-A7OL-01A-11D-A33T-08	12938576	33666419	25462564	185	7908											
PEPD	5184	broad.mit.edu	37	chr19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtactggacgtcgtccacgGcatacttctccttgaagtgc	10	13	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33991872G>A	ENST00000244137.7	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Missense_Mutation_p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	122					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.A122V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GTCGTCCACGGCATACTTCTC	0.557																																						ENST00000244137.6																			1	Substitution - Missense(1)	p.A122V(1)	lung(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(364-366)gCc>gTc		peptidase D							137	144	142					19																	33991872		2042	4206	6248	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33991872G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.365C>T	19.37:g.33991872G>A	ENSP00000244137:p.Ala122Val					PEPD_ENST00000397032.4_Missense_Mutation_p.A122V|PEPD_ENST00000436370.3_Intron	p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			4	398	-	Esophageal squamous(110;0.137)		122					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.365C>T	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068639	0.36470	.	.	ENSG00000124299	ENST00000244137;ENST00000397032	T;T	0.77098	-1.07;-1.07	5.39	5.39	0.77823	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.148969	0.64402	D	0.000010	T	0.74427	0.3715	L	0.58925	1.835	0.80722	D	1	B;B	0.17038	0.02;0.017	B;B	0.19666	0.026;0.009	T	0.69450	-0.5142	10	0.32370	T	0.25	-26.8327	14.6656	0.68904	0.0:0.0:1.0:0.0	.	122;122	A8MX47;P12955	.;PEPD_HUMAN	V	122	ENSP00000244137:A122V;ENSP00000380226:A122V	ENSP00000244137:A122V	A	-	2	0	PEPD	38683712	1.000000	0.71417	0.503000	0.27626	0.454000	0.32378	5.746000	0.68681	2.510000	0.84645	0.462000	0.41574	GCC		0.557	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		6	680	0	0	0	1	0	6	680					A	33991872	G	A	33991872	3	1	65	1	0	0	0	0	1	0	0	0	11770	1203	42	2	1164	2	PEPD	19	33991872	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	325453	33991872	25137111	186	7909											
MAP4K1	11184	broad.mit.edu	37	chr19	39100239	39100239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggattctctactcacgacAgcagtctgcatctgggatcc	9	12	4	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:39100239A>G	ENST00000591517.1	-	13	1031	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000586296.1_Splice_Site_p.C335R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	335					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACTCACGACAGCAGTCTGCA	0.582																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1003-1005)Tgt>Cgt		mitogen-activated protein kinase kinase kinase kinase 1							52	55	54					19																	39100239		1970	4177	6147	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39100239A>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1003T>C	19.37:g.39100239A>G	ENSP00000465039:p.Cys335Arg					MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000586296.1_Splice_Site_p.C335_splice|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR	p.C335R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1031	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		335						Missense_Mutation	SNP	ENST00000591517.1	37	c.1003T>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	10.01	1.234740	0.22626	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.71341	-0.56	4.25	0.715	0.18186	Protein kinase-like domain (1);	0.941218	0.09011	N	0.861554	T	0.50769	0.1635	L	0.29908	0.895	0.29651	N	0.843925	B;B	0.21905	0.062;0.057	B;B	0.17979	0.02;0.014	T	0.40251	-0.9573	10	0.11794	T	0.64	.	3.8459	0.08934	0.4194:0.2013:0.0:0.3793	.	335;335	Q92918-2;Q92918	.;M4K1_HUMAN	R	335	ENSP00000380066:C335R	ENSP00000221409:C335R	C	-	1	0	MAP4K1	43792079	0.569000	0.26643	0.816000	0.32577	0.990000	0.78478	0.529000	0.23019	0.176000	0.19873	0.459000	0.35465	TGT		0.582	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		42	98	0	0	0	1	0	42	98					G	39100239	A	G	39100239	3	3	65	1	0	0	0	0	1	0	0	0	9300	188	7	4	1640	4	MAP4K1	19	39100239	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	5108367	39100239	20028744	187	7910											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		8	1050	0	0	0	1	0	8	1050					T	42132119	C	T	42132119	3	4	65	1	0	0	0	0	1	0	0	0	3203	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3031880	42132119	16996864	188	7911											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	842						7	842	---	---	---	---	-	42753151	GAA	-	42753149	7	5	65	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-HV-A7OL-01A-11D-A33T-08	621030	42753149	16375834	189	7912											
TRPM4	54795	broad.mit.edu	37	chr19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcgtcgtgggctggtgCgggctgcccagagcacaggt	18	11	0	1	rs376262811		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	144					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGGCTGGTGCGGGCTGCCCA	0.731																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(430-432)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 4		C	TRP/ARG,TRP/ARG	1,4399		0,1,2199	28	33	31		430,430	2	1	19		31	0,8590		0,0,4295	no	missense,missense	TRPM4	NM_001195227.1,NM_017636.3	101,101	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	144/1070,144/1215	49671336	1,12989	2200	4295	6495	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671336C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.430C>T	19.37:g.49671336C>T	ENSP00000252826:p.Arg144Trp					TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	p.R144W	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	4	556	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	144					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.430C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880335	0.72294	2.27E-4	0.0	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.03301	3.98;3.98	4.33	1.96	0.26148	.	0.086004	0.46442	D	0.000284	T	0.12050	0.0293	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.952	T	0.01537	-1.1330	10	0.87932	D	0	-31.9032	10.4113	0.44294	0.5303:0.4697:0.0:0.0	.	144;144	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	W	144	ENSP00000252826:R144W;ENSP00000407492:R144W	ENSP00000252826:R144W	R	+	1	2	TRPM4	54363148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.336000	0.43938	1.142000	0.42291	0.491000	0.48974	CGG		0.731	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		5	474	0	0	0	1	0	5	474					T	49671336	C	T	49671336	3	4	65	1	0	0	0	0	1	0	0	0	16641	759	27	1	444	1	TRPM4	19	49671336	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6918187	49671336	9457647	190	7913											
PRMT1	199800	broad.mit.edu	37	chr19	50189963	50189963	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggcaccatcggcatgCggcccaacgccaagaacaac	9	16	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50189963C>T	ENST00000420022.3	+	0	0				PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.R292W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)							extracellular region (GO:0005576)		p.R314W(1)									CATCGGCATGCGGCCCAACGC	0.647																																						ENST00000532489.1																			1	Substitution - Missense(1)	p.R314W(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(874-876)Cgg>Tgg		protein arginine methyltransferase 1							47	41	43					19																	50189963		2203	4299	6502	SO:0001631	upstream_gene_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50189963C>T	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 76", "adrenomedullin 5 homolog (pig)"	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6			19.37:g.50189963C>T	Exception_encountered					PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W	p.R292W			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	10	1380	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	319						Missense_Mutation	SNP	ENST00000420022.3	37	c.874C>T	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582949	0.28268	.	.	ENSG00000126457	ENST00000532489;ENST00000391851;ENST00000454376	T;T;T	0.78246	-1.16;-1.16;-1.16	4.34	2.12	0.27331	.	0.064915	0.64402	D	0.000011	T	0.75162	0.3812	M	0.77616	2.38	0.33715	D	0.616208	B;B;B;B	0.17465	0.004;0.013;0.022;0.006	B;B;B;B	0.09377	0.001;0.001;0.003;0.004	T	0.76490	-0.2940	10	0.87932	D	0	-20.1242	10.0768	0.42366	0.5515:0.4485:0.0:0.0	.	328;292;320;314	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	W	292;320;338	ENSP00000433556:R292W;ENSP00000375724:R320W;ENSP00000406162:R338W	ENSP00000375724:R320W	R	+	1	2	PRMT1	54881775	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	2.706000	0.47135	0.414000	0.25790	0.447000	0.29281	CGG		0.647	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		6	301	0	0	0	1	0	6	301					T	50189963	C	T	50189963	1	4	65	0	1	0	0	0	0	0	0	0	12582	759	27	1		1	PRMT1	19	50189963	5'Flank	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	518627	50189963	8939020	191	7914											
ZNF473	25888	broad.mit.edu	37	chr19	50549989	50549989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttatgtttgtcaggaatgCgggaaagccttcacccagag	11	10	2	1	rs147792590	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50549989C>T	ENST00000595661.1	+	6	2784	c.2289C>T	c.(2287-2289)tgC>tgT	p.C763C	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C763C|ZNF473_ENST00000445728.3_Silent_p.C751C|ZNF473_ENST00000270617.3_Silent_p.C763C|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	763					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)			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)		GTCAGGAATGCGGGAAAGCCT	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				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						c.(2287-2289)tgC>tgT		zinc finger protein 473		C	,	0,4406		0,0,2203	82	81	81		2289,2289	-0.5	1	19	dbSNP_134	81	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	,	763/872,763/872	50549989	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:50549989C>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.2289C>T	19.37:g.50549989C>T			OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C763C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.C751C|ZNF473_ENST00000270617.3_Silent_p.C763C|ZNF473_ENST00000601364.1_Intron	p.C763C			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2784	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	763					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.2289C>T	CCDS33077.1																																																																																				0.522	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		6	581	0	0	0	1	0	6	581					T	50549989	C	T	50549989	2	4	65	1	0	0	0	0	0	0	0	1	17984	776	27	1		1	ZNF473	19	50549989	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	360026	50549989	8578994	192	7915											
KLK7	5650	broad.mit.edu	37	chr19	51480876	51480876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtcattgggttggccGcaagggaaagttccccagga	15	10	1	0	rs17855561		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			C -> W (in Ref. 9; AAH32005). {ECO:0000305}.	epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517																																						ENST00000391807.1																			1	Substitution - coding silent(1)	p.C226C(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(676-678)tgC>tgT		kallikrein-related peptidase 7							150	129	136					19																	51480876		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51480876G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.678C>T	19.37:g.51480876G>A						KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA	p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	6	779	-		all_neural(266;0.026)	226	C -> W (in Ref. 6; AAH32005).		Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.678C>T	CCDS12812.1																																																																																				0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		6	604	0	0	0	1	0	6	604					A	51480876	G	A	51480876	2	1	65	1	0	0	0	0	0	0	0	1	8439	1079	38	1		1	KLK7	19	51480876	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	930887	51480876	7648107	193	7916											
ZNF677	342926	broad.mit.edu	37	chr19	53740485	53740485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgagtaagatttgaacGttcagtaaaggctttgccac	10	7	1	3	rs140137479		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:53740485G>A	ENST00000598513.1	-	5	1645	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF677_ENST00000333952.4_Missense_Mutation_p.R499C	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGATTTGAACGTTCAGTAAAG	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19088	0.0		0.001	False		,,,				2504	0.0					ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1495-1497)Cgt>Tgt		zinc finger protein 677		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	85	86		1495	1.2	0.1	19	dbSNP_134	86	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF677	NM_182609.2	180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	499/585	53740485	2,13002	2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740485G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1495C>T	19.37:g.53740485G>A	ENSP00000469391:p.Arg499Cys					ZNF677_ENST00000598513.1_Missense_Mutation_p.R499C	p.R499C			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1660	-			499						Missense_Mutation	SNP	ENST00000598513.1	37	c.1495C>T	CCDS12861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.966	0.747973	0.15710	2.27E-4	1.16E-4	ENSG00000197928	ENST00000333952	T	0.36157	1.27	2.21	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.501906	0.15110	N	0.279990	T	0.26774	0.0655	L	0.49513	1.565	0.09310	N	1	B	0.27192	0.171	B	0.15052	0.012	T	0.13548	-1.0505	10	0.36615	T	0.2	.	6.8941	0.24247	0.1513:0.0:0.8487:0.0	.	499	Q86XU0	ZN677_HUMAN	C	499	ENSP00000334394:R499C	ENSP00000334394:R499C	R	-	1	0	ZNF677	58432297	0.000000	0.05858	0.082000	0.20525	0.912000	0.54170	-2.309000	0.01130	0.506000	0.28125	0.655000	0.94253	CGT		0.383	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		5	438	0	0	0	1	0	5	438					A	53740485	G	A	53740485	3	1	65	1	0	0	0	0	1	0	0	0	18137	1145	40	1	263	1	ZNF677	19	53740485	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2259609	53740485	5388498	194	7917											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	600						7	600	---	---	---	---	-	54675749	TCC	-	54675747	7	5	65	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-HV-A7OL-01A-11D-A33T-08	935262	54675747	4453236	195	7918											
KIR2DL1	3811	broad.mit.edu	37	chr19	55284925	55284925	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtttaacgacactttgCgcctcattggagaacaccat	9	10	1	1	rs375476159		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:55284925C>T	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R71C			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGACACTTTGCGCCTCATTGG	0.507																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(211-213)Cgc>Tgc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1		A	CYS/ARG	0,4350		0,0,2175	103	92	96		211	-1.5	0	19		96	3,8387		1,1,4193	no	missense	KIR2DL1	NM_014218.2	180	1,1,6368	TT,TC,CC		0.0358,0.0,0.0235		71/349	55284925	3,12737	2175	4195	6370	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284925C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44064C>T	19.37:g.55284925C>T						KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	p.R71C	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	251	+			71			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.211C>T		.	.	.	.	.	.	.	.	.	.	C	4.125	0.021358	0.08006	0.0	3.58E-4	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.22539	1.95;1.95	1.24	-1.49	0.08718	.	.	.	.	.	T	0.17408	0.0418	L	0.52126	1.63	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.19666	0.026;0.02	T	0.31251	-0.9950	9	0.59425	D	0.04	.	5.28	0.15670	0.0:0.6946:0.0:0.3054	.	71;71	Q6IST4;Q6H2H3	.;.	C	71	ENSP00000336769:R71C;ENSP00000291633:R71C	ENSP00000291633:R71C	R	+	1	0	KIR2DL1	59976737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.387000	0.02535	-0.432000	0.07297	-0.745000	0.03516	CGC		0.507	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		7	899	0	0	0	1	0	7	899					T	55284925	C	T	55284925	1	4	65	0	1	0	0	0	0	0	0	0	8346	768	27	1		1	KIR2DL1	19	55284925	Intron	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	609178	55284925	3844058	196	7919											
ZNF581	51545	broad.mit.edu	37	chr19	56156512	56156512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacactgcagaaacacaCgcggtggaagcatccatgag	11	11	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:56156512C>T	ENST00000587252.1	+	2	848	c.575C>T	c.(574-576)aCg>aTg	p.T192M	CCDC106_ENST00000586790.1_5'Flank|CCDC106_ENST00000308964.3_5'Flank|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M|ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAGAAACACACGCGGTGGAAG	0.632																																						ENST00000587252.1																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(574-576)aCg>aTg		zinc finger protein 581							39	40	40					19																	56156512		2203	4300	6503	SO:0001583	missense	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56156512C>T	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.575C>T	19.37:g.56156512C>T	ENSP00000466047:p.Thr192Met					ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M	p.T192M			Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	848	+		Ovarian(87;0.133)	192					B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	37	c.575C>T	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800114	0.31869	.	.	ENSG00000171425	ENST00000270451	T	0.09538	2.97	3.5	0.0648	0.14354	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.00760	-1.21	0.24781	N	0.992819	D	0.67145	0.996	P	0.53649	0.731	T	0.36432	-0.9748	9	0.87932	D	0	.	6.9073	0.24315	0.0:0.4032:0.0:0.5968	.	192	Q9P0T4	ZN581_HUMAN	M	192	ENSP00000270451:T192M	ENSP00000270451:T192M	T	+	2	0	ZNF581	60848324	0.000000	0.05858	0.014000	0.15608	0.453000	0.32348	-0.054000	0.11826	-0.004000	0.14419	0.407000	0.27541	ACG		0.632	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535		5	445	0	0	0	1	0	5	445					T	56156512	C	T	56156512	3	4	65	1	0	0	0	0	1	0	0	0	18066	536	19	1	577	1	ZNF581	19	56156512	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	871587	56156512	2972471	197	7920											
TRIM28	10155	broad.mit.edu	37	chr19	59061796	59061796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttcttcgagacgcGcatgaacgaggccttcggtg	14	12	1	2	rs553301230		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:59061796G>A	ENST00000253024.5	+	17	2673	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	795	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGAGACGCGCATGAACGAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.001		0.0	False		,,,				2504	0.0					ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2383-2385)cGc>cAc		tripartite motif containing 28							78	70	73					19																	59061796		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061796G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2384G>A	19.37:g.59061796G>A	ENSP00000253024:p.Arg795His					TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	p.R795H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	17	2673	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	795			Bromo.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2384G>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729403	0.48833	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.43688	0.94;0.94	5.06	2.95	0.34219	Bromodomain (2);	0.154547	0.40469	N	0.001086	T	0.28532	0.0706	L	0.27053	0.805	0.34967	D	0.752756	B;B;B	0.31054	0.306;0.01;0.204	B;B;B	0.31337	0.128;0.025;0.086	T	0.36939	-0.9727	10	0.46703	T	0.11	-21.0615	9.4971	0.38995	0.1711:0.0:0.8289:0.0	.	713;795;795	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	H	795;713	ENSP00000253024:R795H;ENSP00000342232:R713H	ENSP00000253024:R795H	R	+	2	0	TRIM28	63753608	0.633000	0.27181	0.989000	0.46669	0.989000	0.77384	1.837000	0.39201	0.857000	0.35407	0.462000	0.41574	CGC		0.602	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		5	612	0	0	0	1	0	5	612					A	59061796	G	A	59061796	3	1	65	1	0	0	0	0	1	0	0	0	16555	1087	38	1	2450	1	TRIM28	19	59061796	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2905284	59061796	67187	198	7921											
C20orf54	113278	broad.mit.edu	37	chr20	744268	744268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacagagggcagcatgCcgttggtgagcgcgttgacg	16	10	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:744268C>T	ENST00000217254.7	-	3	1188	c.947G>A	c.(946-948)gGc>gAc	p.G316D	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G316D	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	316					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGGCAGCATGCCGTTGGTGAG	0.632																																						ENST00000381944.3																			0											c.(946-948)gGc>gAc		solute carrier family 52 (riboflavin transporter), member 3							137	111	120					20																	744268		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744268C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.947G>A	20.37:g.744268C>T	ENSP00000217254:p.Gly316Asp					SLC52A3_ENST00000217254.7_Missense_Mutation_p.G316D|SLC52A3_ENST00000473664.1_Intron	p.G316D			Q9NQ40	RFT2_HUMAN			3	1188	-			316					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.947G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764578	0.89932	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80909	-1.43;-1.43	5.07	5.07	0.68467	.	0.046804	0.85682	D	0.000000	D	0.91012	0.7173	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.65773	0.897;0.938	D	0.92984	0.6409	10	0.87932	D	0	-18.2595	17.0351	0.86473	0.0:1.0:0.0:0.0	.	316;316	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	D	316	ENSP00000217254:G316D;ENSP00000371370:G316D	ENSP00000217254:G316D	G	-	2	0	C20orf54	692268	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.995000	0.70631	2.359000	0.80004	0.561000	0.74099	GGC		0.632	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		5	584	0	0	0	1	0	5	584					T	744268	C	T	744268	3	4	65	1	0	0	0	0	1	0	0	0	2121	739	26	2	474	2	C20orf54	20	744268	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		744268	62281252	199	7922											
RASSF2	9770	broad.mit.edu	37	chr20	4771183	4771183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctcacattgccacggcGacgcaccccaacatcactgc	7	19	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:4771183G>A	ENST00000379400.3	-	7	646	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTGCCACGGCGACGCACCCCA	0.592																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(451-453)Cgc>Tgc		Ras association (RalGDS/AF-6) domain family member 2							101	76	84					20																	4771183		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771183G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.451C>T	20.37:g.4771183G>A	ENSP00000368710:p.Arg151Cys					RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C|RASSF2_ENST00000478553.1_5'UTR	p.R151C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	646	-			151					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.451C>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097623	0.76870	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16897	2.31;2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.45381	-0.9265	10	0.87932	D	0	.	12.5495	0.56218	0.0:0.0:0.8336:0.1664	.	151	P50749	RASF2_HUMAN	C	151	ENSP00000368710:R151C;ENSP00000368684:R151C	ENSP00000368684:R151C	R	-	1	0	RASSF2	4719183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.709000	0.61867	2.706000	0.92434	0.563000	0.77884	CGC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		54	154	0	0	0	1	0	54	154					A	4771183	G	A	4771183	3	1	65	1	0	0	0	0	1	0	0	0	13136	1058	37	1	553	1	RASSF2	20	4771183	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	4026915	4771183	58254337	200	7923											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	505						7	505	---	---	---	---	-	25657232	TG	-	25657231	7	5	65	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-HV-A7OL-01A-11D-A33T-08	20886048	25657231	37368289	201	7924											
ADA	100	broad.mit.edu	37	chr20	43257762	43257762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtccatgccaatgacGttcagcagcccctctgctgt	10	14	2	1	rs189751145	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43257762G>A	ENST00000372874.4	-	3	278	c.144C>T	c.(142-144)aaC>aaT	p.N48N	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Silent_p.N48N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	48					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCCAATGACGTTCAGCAGCC	0.592									Adenosine Deaminase Deficiency				G|||	3	0.000599042	0.0	0.0014	5008	,	,		19734	0.001		0.001	False		,,,				2504	0.0					ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(142-144)aaC>aaT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						156	103	121					20																	43257762		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43257762G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.144C>T	20.37:g.43257762G>A						ADA_ENST00000537820.1_Silent_p.N48N	p.N48N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	278	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	48					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.144C>T	CCDS13335.1																																																																																				0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		6	441	0	0	0	1	0	6	441					A	43257762	G	A	43257762	2	1	65	1	0	0	0	0	0	0	0	1	230	1136	40	1		1	ADA	20	43257762	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	17600531	43257762	19767758	202	7925											
PABPC1L	80336	broad.mit.edu	37	chr20	43545506	43545506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgctgctgaatgaccGcaaagtgtgagtggctgggc	17	7	0	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43545506G>A	ENST00000217073.2	+	3	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PABPC1L_ENST00000255136.3_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R166H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGAATGACCGCAAAGTGTGA	0.592																																						ENST00000255136.3																			1	Substitution - Missense(1)	p.R166H(1)	kidney(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGc>cAc		poly(A) binding protein, cytoplasmic 1-like							81	74	76					20																	43545506		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43545506G>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.497G>A	20.37:g.43545506G>A	ENSP00000217073:p.Arg166His					PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H	p.R166H	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			3	579	+			166			RRM 2.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.497G>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878785	0.72294	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70787	2.145	0.58432	D	0.999999	P	0.43431	0.807	B	0.28638	0.092	D	0.90597	0.4541	10	0.66056	D	0.02	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	166	Q4VXU2	PAP1L_HUMAN	H	166	ENSP00000217074:R166H;ENSP00000255136:R166H;ENSP00000445661:R166H;ENSP00000217073:R166H	ENSP00000217073:R166H	R	+	2	0	PABPC1L	42978920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.896000	0.87350	2.375000	0.81037	0.563000	0.77884	CGC		0.592	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			7	448	0	0	0	1	0	7	448					A	43545506	G	A	43545506	3	1	65	1	0	0	0	0	1	0	0	0	11406	1087	38	1	507	1	PABPC1L	20	43545506	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	287744	43545506	19480014	203	7926											
ZNF217	7764	broad.mit.edu	37	chr20	52198591	52198591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcctccctcgaggacgGcattcctccttgtggagagt	12	12	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198591G>A	ENST00000371471.2	-	2	1200	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S			O75362	ZN217_HUMAN	zinc finger protein 217	259					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCGAGGACGGCATTCCTCCT	0.512																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(775-777)Ccg>Tcg		zinc finger protein 217							102	97	99					20																	52198591		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198591G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.775C>T	20.37:g.52198591G>A	ENSP00000360526:p.Pro259Ser					ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S	p.P259S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1200	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		259					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.775C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518688	0.04171	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08634	3.07;3.07	5.46	-0.716	0.11212	.	0.952709	0.08770	N	0.896438	T	0.05686	0.0149	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.43734	-0.9373	10	0.33141	T	0.24	-5.7251	2.3642	0.04315	0.1675:0.1085:0.1954:0.5286	.	259	O75362	ZN217_HUMAN	S	259	ENSP00000360526:P259S;ENSP00000304308:P259S	ENSP00000304308:P259S	P	-	1	0	ZNF217	51631998	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.254000	0.08781	0.235000	0.21160	0.591000	0.81541	CCG		0.512	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		6	731	0	0	0	1	0	6	731					A	52198591	G	A	52198591	3	1	65	1	0	0	0	0	1	0	0	0	17825	1203	42	2	2387	2	ZNF217	20	52198591	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8653085	52198591	10826929	204	7927											
ADRM1	11047	broad.mit.edu	37	chr20	60883799	60883799	+	Missense_Mutation	SNP	G	G	T													gacaagaaggacgaagaggaGgacatgagcctggactgagc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883799G>T	ENST00000253003.2	+	10	1252	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	402	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGAAGAGGAGGACATGAGCC	0.557																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1204-1206)gaG>gaT		adhesion regulating molecule 1							161	122	135					20																	60883799		2190	4294	6484	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883799G>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1206G>T	20.37:g.60883799G>T	ENSP00000253003:p.Glu402Asp					LAMA5_ENST00000492698.1_Intron	p.E402D	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1252	+	Breast(26;7.76e-09)		402			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1206G>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311241	0.81358	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.42581	1.335	0.80722	D	1	P	0.34699	0.464	P	0.53760	0.734	T	0.58847	-0.7564	9	0.31617	T	0.26	-32.0816	11.5512	0.50721	0.6719:0.0:0.3281:0.0	.	402	Q16186	ADRM1_HUMAN	D	402	.	ENSP00000253003:E402D	E	+	3	2	ADRM1	60317194	0.989000	0.36119	0.990000	0.47175	0.735000	0.41995	0.312000	0.19397	-0.272000	0.09259	0.561000	0.74099	GAG		0.557	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			32	167	1	0	3.1745e-13	1	3.42294e-13	32	167					T	60883799	G	T	60883799	3	4	65	1	0	0	0	0	1	0	0	0	345	991	35	3	1240	3	ADRM1	20	60883799	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8685208	60883799	2141721	205	7928	54	2									
ADRM1	11047	broad.mit.edu	37	chr20	60883800	60883800	+	Missense_Mutation	SNP	G	G	T													acaagaaggacgaagaggagGacatgagcctggactgagcc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883800G>T	ENST00000253003.2	+	10	1253	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	403	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGAAGAGGAGGACATGAGCCT	0.562																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1207-1209)Gac>Tac		adhesion regulating molecule 1							160	122	135					20																	60883800		2190	4294	6484	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883800G>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1207G>T	20.37:g.60883800G>T	ENSP00000253003:p.Asp403Tyr					LAMA5_ENST00000492698.1_Intron	p.D403Y	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1253	+	Breast(26;7.76e-09)		403			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1207G>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579440	0.86645	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	P	0.60415	0.874	T	0.80518	-0.1347	9	0.72032	D	0.01	-31.7805	16.5253	0.84329	0.0:0.131:0.869:0.0	.	403	Q16186	ADRM1_HUMAN	Y	403	.	ENSP00000253003:D403Y	D	+	1	0	ADRM1	60317195	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	9.313000	0.96297	1.414000	0.47017	0.561000	0.74099	GAC		0.562	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			32	159	1	0	3.1745e-13	1	3.42294e-13	32	159					T	60883800	G	T	60883800	3	4	65	1	0	0	0	0	1	0	0	0	345	1174	41	3	1241	3	ADRM1	20	60883800	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1	60883800	2141720	206	7929	54	2									
C20orf195	79025	broad.mit.edu	37	chr20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaccgaaaggcgtcggCggctcaccaggactgggccc	15	13	1	1	rs117659219	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16878	0.0		0.002	False		,,,				2504	0.0					ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(652-654)gCg>gTg		chromosome 20 open reading frame 195		C	VAL/ALA	0,4406		0,0,2203	93	98	96		653	3.2	1	20	dbSNP_132	96	6,8592	5.0+/-18.6	0,6,4293	yes	missense	C20orf195	NM_024059.2	64	0,6,6496	TT,TC,CC		0.0698,0.0,0.0461	benign	218/319	62187669	6,12998	2203	4299	6502	SO:0001583	missense	79025							g.chr20:62187669C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.653C>T	20.37:g.62187669C>T	ENSP00000359116:p.Ala218Val					C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	745	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		218						Missense_Mutation	SNP	ENST00000370098.3	37	c.653C>T	CCDS13526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.207	-0.381718	0.04966	0.0	6.98E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	3.22	0.36961	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.731967	0.11933	N	0.515501	T	0.13030	0.0316	N	0.02539	-0.55	0.24278	N	0.995215	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.02654	T	1	-20.5053	9.1521	0.36969	0.0:0.1496:0.0:0.8504	.	218	Q9BVV2	CT195_HUMAN	V	218	.	ENSP00000359115:A218V	A	+	2	0	C20orf195	61658113	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	2.401000	0.44513	0.393000	0.25203	-0.302000	0.09304	GCG		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		185	906	0	0	0	1	0	185	906					T	62187669	C	T	62187669	3	4	65	1	0	0	0	0	1	0	0	0	2107	768	27	1	655	1	C20orf195	20	62187669	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1303869	62187669	837851	207	7930											
TIAM1	7074	broad.mit.edu	37	chr21	32508274	32508274	+	Frame_Shift_Del	DEL	T	T	-													atgctgccaactctggttccTttttccacttgcccagcgag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:32508274delT	ENST00000286827.3	-	24	4331	c.3860delA	c.(3859-3861)aagfs	p.K1287fs	TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1287	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTGGTTCCTTTTTCCACTT	0.483																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3859-3861)agfs		T-cell lymphoma invasion and metastasis 1							108	103	105					21																	32508274		2203	4300	6503	SO:0001589	frameshift_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32508274delT		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3860delA	21.37:g.32508274delT	ENSP00000286827:p.Lys1287fs					TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs	p.K1287fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			24	4331	-			1287			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Frame_Shift_Del	DEL	ENST00000286827.3	37	c.3860delA	CCDS13609.1																																																																																				0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		8	687						8	687	---	---	---	---	-	32508274	T	-	32508274	7	5	65	1	0	1	0	1	0	0	0	0	15942	1609	56	0	939	0	TIAM1	21	32508274	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08		32508274	15621621	208	7931											
UMODL1	89766	broad.mit.edu	37	chr21	43543258	43543258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaccctcatgcagAgcgtaagaccaggagagcca	14	10	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000408910.2	+	17	3145	c.3145A>C	c.(3145-3147)Agc>Cgc	p.S1049R	UMODL1_ENST00000400427.1_Missense_Mutation_p.S1105R|UMODL1_ENST00000400424.2_Missense_Mutation_p.S977R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1049	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTCATGCAGAGCGTAAGACC	0.622																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3313-3315)Agc>Cgc		uromodulin-like 1							37	39	38					21																	43543258		2103	4211	6314	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543258A>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3145A>C	21.37:g.43543258A>C	ENSP00000386147:p.Ser1049Arg					UMODL1_ENST00000400424.1_Missense_Mutation_p.S977R|UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR	p.S1105R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			16	3709	+			1049			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3313A>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.328296	0.41197	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	3.13	3.13	0.36017	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.506608	0.16330	N	0.219167	D	0.84772	0.5546	L	0.52266	1.64	0.38979	D	0.958909	D;D	0.76494	0.999;0.999	D;D	0.73708	0.976;0.981	D	0.83927	0.0304	9	.	.	.	-11.4154	10.9262	0.47191	1.0:0.0:0.0:0.0	.	1177;1049	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1105;977;1177;1049	ENSP00000383279:S1105R;ENSP00000383276:S977R;ENSP00000386126:S1177R;ENSP00000386147:S1049R	.	S	+	1	0	UMODL1	42416327	1.000000	0.71417	0.959000	0.39883	0.192000	0.23643	4.772000	0.62324	1.674000	0.50907	0.260000	0.18958	AGC		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			30	166	0	0	0	1	0	30	166					C	43543258	A	C	43543258	3	2	65	1	0	0	0	0	1	0	0	0	17034	304	11	4	3591	4	UMODL1	21	43543258	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	11034984	43543258	4586637	209	7932											
RFPL1	5988	broad.mit.edu	37	chr22	29834846	29834846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattttcttcccttgtgCacttttcccctggcagtgga	9	11	1	0	rs61734572		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:29834846C>T	ENST00000354373.2	+	1	275	c.66C>T	c.(64-66)tgC>tgT	p.C22C	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	22							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCCCTTGTGCACTTTTCCCC	0.478																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(64-66)tgC>tgT		ret finger protein-like 1							104	100	102					22																	29834846		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29834846C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.66C>T	22.37:g.29834846C>T						RFPL1S_ENST00000461286.2_RNA	p.C22C	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	275	+			22					Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.66C>T	CCDS13857.2																																																																																				0.478	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		6	503	0	0	0	1	0	6	503					T	29834846	C	T	29834846	2	4	65	1	0	0	0	0	0	0	0	1	13303	718	25	2		2	RFPL1	22	29834846	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		29834846	21469720	210	7933											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377	317	337					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		7	961	0	0	0	1	0	7	961					T	17770059	C	T	17770059	2	4	65	1	0	0	0	0	0	0	0	1	13959	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		17770059	137500501	211	7934											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	65	1	0	1.024e-07	1	1.07153e-07	5	65					T	47030582	G	T	47030582	3	4	65	1	0	0	0	0	1	0	0	0	13161	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	29260523	47030582	108239978	212	7935											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		11	311	0	0	0	1	0	11	311					C	73811938	G	C	73811938	2	2	65	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	26781356	73811938	81458622	213	7936											
ZDHHC15	158866	broad.mit.edu	37	chrX	74649035	74649036	+	Splice_Site	INS	-	-	A													ccaatgcagttattaaccctINSaaaaaaaaagaaaaactaat							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:74649035_74649036insA	ENST00000373367.3	-	7	713		c.e7-2		ZDHHC15_ENST00000541184.1_Splice_Site|ZDHHC15_ENST00000373361.3_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15						establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTATTAACCCTAAAAAAAAAGA	0.366													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	3	0.000794702	0.0008	0.0014	3775	,	,		13814	0.0		0.001	False		,,,				2504	0.0					ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.e6-2		zinc finger, DHHC-type containing 15																																				SO:0001630	splice_region_variant	158866					integral to membrane	zinc ion binding	g.chrX:74649035_74649036insA	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.483-2->T	X.37:g.74649044_74649044dupA						ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Intron		NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			6	933	-								B3KVG7|Q3SY30|Q6UWH3	Splice_Site	INS	ENST00000373367.3	37		CCDS14430.1																																																																																				0.366	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	Intron	7	202						7	202	---	---	---	---	A	74649036	-	A	74649035	8	5	65	1	0	1	1	0	0	0	1	0	17658	1536	53	0	552	0	ZDHHC15	23	74649035	Splice_Site	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	837097	74649035	80621525	214	7937											
PCDH11X	27328	broad.mit.edu	37	chrX	91090548	91090548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcgcggtcctgctagcAtgcgtggtgttccactctgg	12	11	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:91090548A>G	ENST00000373094.1	+	1	890	c.45A>G	c.(43-45)gcA>gcG	p.A15A	PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000504220.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	15					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCTGCTAGCATGCGTGGTGT	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(43-45)gcA>gcG		protocadherin 11 X-linked							139	108	119					X																	91090548		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090548A>G	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.45A>G	X.37:g.91090548A>G						PCDH11X_ENST00000504220.1_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A	p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	890	+			15					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.45A>G	CCDS14461.1																																																																																				0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		6	208	0	0	0	1	0	6	208					G	91090548	A	G	91090548	2	3	65	1	0	0	0	0	0	0	0	1	11550	204	8	4		4	PCDH11X	23	91090548	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	16441513	91090548	64180012	215	7938											
DIAPH2	1730	broad.mit.edu	37	chrX	96185760	96185760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtttataaatgcccTtgtcacttctccttatgagc	6	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:96185760T>G	ENST00000324765.8	+	10	1354	c.1007T>G	c.(1006-1008)cTt>cGt	p.L336R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	336	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATAAATGCCCTTGTCACTTCT	0.303																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1006-1008)cTt>cGt		diaphanous-related formin 2							96	87	90					X																	96185760		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96185760T>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1007T>G	X.37:g.96185760T>G	ENSP00000321348:p.Leu336Arg					DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R	p.L336R			O60879	DIAP2_HUMAN			10	1354	+			336			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1007T>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234447	0.58886	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.93	4.93	0.64822	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	D	0.96411	0.8829	M	0.89095	3.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97111	0.9804	10	0.87932	D	0	.	13.9748	0.64265	0.0:0.0:0.0:1.0	.	336;336;343	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	336;332;336;336;336;343	ENSP00000362152:L336R;ENSP00000362145:L332R;ENSP00000348082:L336R;ENSP00000362140:L336R;ENSP00000321348:L336R	ENSP00000321348:L336R	L	+	2	0	DIAPH2	96072416	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.424000	0.80242	1.745000	0.51790	0.481000	0.45027	CTT		0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		65	125	0	0	0	1	0	65	125					G	96185760	T	G	96185760	3	3	65	1	0	0	0	0	1	0	0	0	4535	1609	56	4	1045	4	DIAPH2	23	96185760	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	5095212	96185760	59084800	216	7939											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	288						7	288	---	---	---	---	-	135585050	AAG	-	135585048	7	5	65	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-HV-A7OL-01A-11D-A33T-08	39399288	135585048	19685512	217	7940											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		11	260						11	260	---	---	---	---	-	149639327	CAG	-	149639325	7	5	65	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-HV-A7OL-01A-11D-A33T-08	14054277	149639325	5631235	218	7941											
NSDHL	50814	broad.mit.edu	37	chrX	152037520	152037520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaccttcacacccatgCgggtcgcactggctggcaca	10	17	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:152037520C>T	ENST00000370274.3	+	8	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	328					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCATGCGGGTCGCACT	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(982-984)Cgg>Tgg		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						77	61	66					X																	152037520		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037520C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.982C>T	X.37:g.152037520C>T	ENSP00000359297:p.Arg328Trp					NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1176	+	Acute lymphoblastic leukemia(192;6.56e-05)		328					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.982C>T	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84298	-1.83;-1.83	4.12	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.82323	2.585	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90694	0.4615	10	0.87932	D	0	-28.041	9.0154	0.36166	0.3959:0.6041:0.0:0.0	.	328	Q15738	NSDHL_HUMAN	W	328	ENSP00000359297:R328W;ENSP00000391854:R328W	ENSP00000359297:R328W	R	+	1	2	NSDHL	151788176	1.000000	0.71417	0.081000	0.20488	0.248000	0.25809	2.568000	0.45965	0.820000	0.34516	0.544000	0.68410	CGG		0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		4	210	0	0	0	1	0	4	210					T	152037520	C	T	152037520	3	4	65	1	0	0	0	0	1	0	0	0	10712	759	27	1	1008	1	NSDHL	23	152037520	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2398195	152037520	3233040	219	7942											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	419						8	419	---	---	---	---	-	154157686	T	-	154157686	7	5	65	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	2120166	154157686	1112874	220	7943											
MEGF6	1953	broad.mit.edu	37	chr1	3407102	3407102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctctactagtgcctcGctggtccaccgctccgggat	10	16	1	0	rs199963086		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:3407102G>A	ENST00000356575.4	-	37	4842	c.4616C>T	c.(4615-4617)gCg>gTg	p.A1539V	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTAGTGCCTCGCTGGTCCACC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14542	0.0		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(4615-4617)gCg>gTg		multiple EGF-like-domains 6							29	37	35					1																	3407102		1971	4145	6116	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3407102G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4616C>T	1.37:g.3407102G>A	ENSP00000348982:p.Ala1539Val					MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	p.A1539V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	37	4842	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1539					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.4616C>T	CCDS41237.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.095	0.775361	0.16051	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87809	-2.3;-1.88	3.16	-0.829	0.10796	.	.	.	.	.	T	0.72095	0.3418	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.59867	-0.7373	9	0.87932	D	0	.	2.7367	0.05242	0.4:0.0:0.3355:0.2644	.	1539;1227	O75095;O75095-2	MEGF6_HUMAN;.	V	1227;1539	ENSP00000294599:A1227V;ENSP00000348982:A1539V	ENSP00000294599:A1227V	A	-	2	0	MEGF6	3396962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.748000	0.04818	-0.156000	0.11079	-0.229000	0.12294	GCG		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		9	121	0	0	0	1	0	9	121					A	3407102	G	A	3407102	3	1	66	1	0	0	0	0	1	0	0	0	9503	1087	38	1	13	1	MEGF6	1	3407102	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		3407102	245843519	1	7944											
PTP4A2	8073	broad.mit.edu	37	chr1	32381581	32381582	+	In_Frame_Ins	INS	-	-	TAA													agtcgtcactccatacttctINStaagttcctttaaaaaaaaa							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:32381581_32381582insTAA	ENST00000602725.1	-	2	520_521	c.103_104insTTA	c.(103-105)aag>aTTAag	p.34_35insI	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000344035.6_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insI			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	34					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCCATACTTCTTAAGTTCCttt	0.361																																						ENST00000344035.6																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(103-105)gaa>TTAgaa		protein tyrosine phosphatase type IVA, member 2																																				SO:0001652	inframe_insertion	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32381581_32381582insTAA	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.101_103dupTTA	1.37:g.32381582_32381584dupTAA	ENSP00000473259:p.Leu34_Lys35insIle					PTP4A2_ENST00000602725.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insL|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000457805.2_Intron	p.34_35insL	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN			3	1096_1097	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	34					A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	In_Frame_Ins	INS	ENST00000602725.1	37	c.103_104insTTA	CCDS348.1																																																																																				0.361	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		59	33						59	33	---	---	---	---	TAA	32381582	-	TAA	32381581	7	5	66	1	0	1	1	0	0	0	0	0	12819	1609	56	0	415	0	PTP4A2	1	32381581	In_Frame_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	28974479	32381581	216869040	2	7945											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	257						7	257	---	---	---	---	-	44447009	AGC	-	44447007	7	5	66	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-HV-A7OP-01A-11D-A33T-08	12065426	44447007	204803614	3	7946											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		11	225						11	225	---	---	---	---	-	46184898	AC	-	46184897	7	5	66	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-HV-A7OP-01A-11D-A33T-08	1737890	46184897	203065724	4	7947											
LRRC41	10489	broad.mit.edu	37	chr1	46745230	46745230	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcatagcagcaaccatctCaggcagaaattgggctgggc	11	11	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46745230C>T	ENST00000343304.6	-	8	2362	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547																																						ENST00000343304.6																			1	Substitution - Missense(1)	p.E693Q(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2077-2079)Gag>Aag		leucine rich repeat containing 41							102	116	111					1																	46745230		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745230C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2077G>A	1.37:g.46745230C>T	ENSP00000343298:p.Glu693Lys					LRRC41_ENST00000472710.1_5'UTR	p.E693K	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			8	2362	-	Acute lymphoblastic leukemia(166;0.155)		693					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2077G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758208	0.31137	.	.	ENSG00000132128	ENST00000343304	T	0.53206	0.63	4.57	3.57	0.40892	.	0.202217	0.34291	N	0.004100	T	0.26011	0.0634	N	0.08118	0	0.34421	D	0.697446	B;B	0.23891	0.093;0.009	B;B	0.17433	0.018;0.008	T	0.28902	-1.0029	10	0.23891	T	0.37	-1.5883	13.1628	0.59554	0.0:0.9094:0.0:0.0906	.	693;693	Q15345-3;Q15345	.;LRC41_HUMAN	K	693	ENSP00000343298:E693K	ENSP00000343298:E693K	E	-	1	0	LRRC41	46517817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.622000	0.46427	2.368000	0.80403	0.561000	0.74099	GAG		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	509	0	0	0	1	0	7	509					T	46745230	C	T	46745230	3	4	66	1	0	0	0	0	1	0	0	0	9037	835	29	2	373	2	LRRC41	1	46745230	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	560333	46745230	202505391	5	7948											
PODN	127435	broad.mit.edu	37	chr1	53543466	53543466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgagggcctggacaacgagaCcttctggtgagtccttgtct	13	11	2	2	rs371289481		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:53543466C>G	ENST00000312553.5	+	7	999	c.992C>G	c.(991-993)aCc>aGc	p.T331S	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.T312S|PODN_ENST00000395871.2_Missense_Mutation_p.T189S	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	283					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAACGAGACCTTCTGGTGA	0.642																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(934-936)aCc>aGc		podocan							85	90	88					1																	53543466		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53543466C>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.992C>G	1.37:g.53543466C>G	ENSP00000308315:p.Thr331Ser					PODN_ENST00000312553.5_Missense_Mutation_p.T331S|PODN_ENST00000395871.2_Missense_Mutation_p.T189S|RP11-334A14.5_ENST00000447867.1_RNA	p.T312S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			9	1276	+			283					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.935C>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232191	0.79688	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.55234	0.53;0.53;0.53	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	N	0.12961	0.28	0.50813	D	0.999894	P;D;B	0.71674	0.532;0.998;0.332	B;D;P	0.81914	0.413;0.995;0.493	T	0.61192	-0.7112	10	0.40728	T	0.16	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	189;312;331	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	312;189;331	ENSP00000360555:T312S;ENSP00000379212:T189S;ENSP00000308315:T331S	ENSP00000308315:T331S	T	+	2	0	PODN	53316054	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.125000	0.77193	2.477000	0.83638	0.561000	0.74099	ACC		0.642	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		47	240	0	0	0	1	0	47	240					G	53543466	C	G	53543466	3	3	66	1	0	0	0	0	1	0	0	0	12220	507	18	5	1018	5	PODN	1	53543466	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6798236	53543466	195707155	6	7949											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		7	278						7	278	---	---	---	---	-	92447230	AGC	-	92447228	7	5	66	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-HV-A7OP-01A-11D-A33T-08	38903762	92447228	156803393	7	7950											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1	rs77113202		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	707	1	0	2.0095e-06	1	2.09165e-06	7	707					A	145324377	C	A	145324377	3	1	66	1	0	0	0	0	1	0	0	0	10234	768	27	3	3682	3	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	52877149	145324377	103926244	8	7951											
SV2A	9900	broad.mit.edu	37	chr1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-													catcactgggagcagggaagTcatcatcatcatcctcctcc					rs199556773		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gatgac>gac	p.56_57DD>D	SV2A_ENST00000369145.1_In_Frame_Del_p.56_57DD>D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCAGGGAAGTCATCATCATCAT	0.542																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(166-171)gac>ga		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001651	inframe_deletion	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885223_149885225delTCA	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.168_170delTGA	1.37:g.149885232_149885234delTCA	ENSP00000358142:p.Asp57del					SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	658_660	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		56			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	In_Frame_Del	DEL	ENST00000369146.3	37	c.168_170delTGA	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			9	1016						9	1016	---	---	---	---	-	149885225	TCA	-	149885223	7	5	66	1	0	1	0	1	0	0	0	0	15469	1667	58	0	2106	0	SV2A	1	149885223	In_Frame_Del	DEL	TCA	TCGA-HV-A7OP-01A-11D-A33T-08	4560846	149885223	99365398	9	7952											
APH1A	51107	broad.mit.edu	37	chr1	150240457	150240457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccgggcatctgaccGgtcggtcacatggaccaaga	14	12	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150240457G>A	ENST00000369109.3	-	2	372	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	APH1A_ENST00000360244.4_Missense_Mutation_p.R62W|APH1A_ENST00000461320.1_Intron|APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	62					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCTGACCGGTCGGTCACA	0.552																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(184-186)Cgg>Tgg		APH1A gamma secretase subunit							61	68	66					1																	150240457		1972	4143	6115	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240457G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.184C>T	1.37:g.150240457G>A	ENSP00000358105:p.Arg62Trp					APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.R62W|APH1A_ENST00000461320.1_Intron	p.R62W	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	676	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		62					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.184C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895172	0.72639	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.44881	0.91;0.91	5.0	4.08	0.47627	.	0.552403	0.18267	N	0.146425	T	0.21921	0.0528	N	0.08118	0	0.80722	D	1	P;P;P	0.48911	0.899;0.917;0.917	P;P;P	0.53185	0.526;0.657;0.72	T	0.15206	-1.0445	10	0.72032	D	0.01	-3.6332	10.4948	0.44770	0.0:0.0:0.6471:0.3528	.	62;62;62	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	W	62	ENSP00000358105:R62W;ENSP00000353380:R62W	ENSP00000353380:R62W	R	-	1	2	APH1A	148507081	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	2.104000	0.41815	1.307000	0.44944	0.591000	0.81541	CGG		0.552	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		6	733	0	0	0	1	0	6	733					A	150240457	G	A	150240457	3	1	66	1	0	0	0	0	1	0	0	0	771	1115	39	1	648	1	APH1A	1	150240457	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	355234	150240457	99010164	10	7953											
ECM1	1893	broad.mit.edu	37	chr1	150484272	150484272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttccagcgctgctgcCgccaggggaacaatcacacc	13	14	1	0	rs199951855		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150484272C>T	ENST00000369047.4	+	7	1173	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGCTGCTGCCGCCAGGGGAA	0.622																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(1048-1050)Cgc>Tgc		extracellular matrix protein 1							45	45	45					1																	150484272		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484272C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1048C>T	1.37:g.150484272C>T	ENSP00000358043:p.Arg350Cys					ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	p.R350C	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	1173	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		350			2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1048C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856028	0.71834	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.80214	-1.35;-1.35	4.19	4.19	0.49359	.	0.234553	0.32640	N	0.005821	D	0.83505	0.5269	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70716	0.862;0.97;0.91	D	0.85406	0.1134	10	0.87932	D	0	-15.5817	12.1957	0.54296	0.0:1.0:0.0:0.0	.	377;350;350	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	C	377;350	ENSP00000358045:R377C;ENSP00000358043:R350C	ENSP00000358043:R350C	R	+	1	0	ECM1	148750896	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.256000	0.43231	2.331000	0.79229	0.555000	0.69702	CGC		0.622	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		58	451	0	0	0	1	0	58	451					T	150484272	C	T	150484272	3	4	66	1	0	0	0	0	1	0	0	0	4913	652	23	1	1074	1	ECM1	1	150484272	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	243815	150484272	98766349	11	7954											
ANXA9	8416	broad.mit.edu	37	chr1	150959077	150959077	+	Splice_Site	DEL	G	G	-													aagaacagtttctcctcctaGgggggccgtgacagctactc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150959077delG	ENST00000368947.4	+	9	1028		c.e9-1			NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCCTCCTAGGGGGGCCGTG	0.522																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.e9-1		annexin A9				40,4226		19,2,2112	84	90	88			4.9	0.9	1		87	76,8178		37,2,4088	no	splice-3	ANXA9	NM_003568.2		56,4,6200	A1A1,A1R,RR		0.9208,0.9376,0.9265			150959077	116,12404	2203	4300	6503	SO:0001630	splice_region_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150959077delG	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.553-1G>-	1.37:g.150959077delG								NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1028	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)							Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Splice_Site	DEL	ENST00000368947.4	37		CCDS975.2																																																																																				0.522	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568	Intron	7	1109						7	1109	---	---	---	---	-	150959077	G	-	150959077	8	5	66	1	0	1	0	1	0	0	1	0	725	1014	35	0	578	0	ANXA9	1	150959077	Splice_Site	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	474805	150959077	98291544	12	7955											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	8	18	4	0	rs113946258	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				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						c.(3472-3474)cCg>cGg		trichohyalin							71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>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.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	722	0	0	0	1	0	6	722					C	152082220	G	C	152082220	3	2	66	1	0	0	0	0	1	0	0	0	15752	1116	39	5	2362	5	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1123143	152082220	97168401	13	7956											
TCHH	7062	broad.mit.edu	37	chr1	152082377	152082377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgacattgcctctcccGctcctggcgccttctcttct	6	20	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082377G>A	ENST00000368804.1	-	2	3315	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			TGCCTCTCCCGCTCCTGGCGC	0.617																																						ENST00000368804.1																			0				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						c.(3316-3318)Cgg>Tgg		trichohyalin							91	94	93					1																	152082377		1973	4135	6108	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082377G>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.3316C>T	1.37:g.152082377G>A	ENSP00000357794:p.Arg1106Trp						p.R1106W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1106			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3316C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	6.458	0.452668	0.12283	.	.	ENSG00000159450	ENST00000368804	T	0.12569	2.67	3.07	1.05	0.20165	.	.	.	.	.	T	0.02533	0.0077	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.34054	-0.9844	9	0.59425	D	0.04	.	1.5685	0.02609	0.1306:0.2115:0.4418:0.216	.	1106	Q07283	TRHY_HUMAN	W	1106	ENSP00000357794:R1106W	ENSP00000357794:R1106W	R	-	1	2	TCHH	150349001	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.401000	0.20948	0.038000	0.15604	0.462000	0.41574	CGG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	1264	0	0	0	1	0	8	1264					A	152082377	G	A	152082377	3	1	66	1	0	0	0	0	1	0	0	0	15752	1086	38	1	2519	1	TCHH	1	152082377	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	157	152082377	97168244	14	7957											
FLG	2312	broad.mit.edu	37	chr1	152286884	152286885	+	Frame_Shift_Ins	INS	-	-	T													ggtgaatatccttttctttcINSttttttttcagaactagatt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152286884_152286885insT	ENST00000368799.1	-	3	512_513	c.477_478insA	c.(475-480)aaagaafs	p.E160fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	160					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)			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)			CCTTTTCTTTCTTTTTTTTCAG	0.342									Ichthyosis																													ENST00000368799.1																			0				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						c.(475-480)aaaaagfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286884_152286885insT	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.478dupA	1.37:g.152286892_152286892dupT	ENSP00000357789:p.Glu160fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.KK159fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	512_513	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		159					Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.477_478insA	CCDS30860.1																																																																																				0.342	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	801						9	801	---	---	---	---	T	152286885	-	T	152286884	7	5	66	1	0	1	1	0	0	0	0	0	5947	922	32	0	11711	0	FLG	1	152286884	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	204507	152286884	96963737	15	7958											
LCE2C	353140	broad.mit.edu	37	chr1	152648576	152648576	+	Frame_Shift_Del	DEL	C	C	-													caaaatgtccacctaagtgtCcccccaaatgcccaccacag					rs561716750	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152648576delC	ENST00000368783.1	+	2	140	c.85delC	c.(85-87)cccfs	p.P30fs	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	30	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acctaagtgtccccccaaATG	0.592																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(85-87)ccfs		late cornified envelope 2C							118	126	123					1																	152648576		2203	4300	6503	SO:0001589	frameshift_variant	353140				keratinization			g.chr1:152648576delC		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.85delC	1.37:g.152648576delC	ENSP00000357772:p.Pro30fs					LCE2B_ENST00000417924.2_Intron	p.P30fs	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	140	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			Cys-rich.			Frame_Shift_Del	DEL	ENST00000368783.1	37	c.85delC	CCDS1019.1																																																																																				0.592	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		7	1453						7	1453	---	---	---	---	-	152648576	C	-	152648576	7	5	66	1	0	1	0	1	0	0	0	0	8698	855	30	0	87	0	LCE2C	1	152648576	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	361692	152648576	96602045	16	7959											
SLC27A3	11000	broad.mit.edu	37	chr1	153750295	153750295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctgggaagattgccaGcagcacagggtgacggtgtt	15	8	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153750295G>A	ENST00000368661.3	+	4	1301	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	SLC27A3_ENST00000271857.2_Silent_p.Q493Q|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	412					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTGCCAGCAGCACAGGG	0.592																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1477-1479)caG>caA		solute carrier family 27 (fatty acid transporter), member 3							79	68	72					1																	153750295		2203	4300	6503	SO:0001819	synonymous_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153750295G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1236G>A	1.37:g.153750295G>A						SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Silent_p.Q412Q	p.Q493Q			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	2239	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		412					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.1479G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979781	0.18812	.	.	ENSG00000143554	ENST00000458027	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50092	-0.8868	4	.	.	.	-15.1753	9.1178	0.36769	0.0974:0.0:0.9026:0.0	.	.	.	.	N	117	.	.	S	+	2	0	SLC27A3	152016919	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	0.692000	0.25482	2.553000	0.86117	0.491000	0.48974	AGC		0.592	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		6	641	0	0	0	1	0	6	641					A	153750295	G	A	153750295	2	1	66	1	0	0	0	0	0	0	0	1	14577	962	34	2		2	SLC27A3	1	153750295	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1101719	153750295	95500326	17	7960											
DENND4B	9909	broad.mit.edu	37	chr1	153905124	153905124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcccttacccccatGtgcccgttgcagagctgggg	13	16	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153905124G>T	ENST00000361217.4	-	23	4171	c.3753C>A	c.(3751-3753)caC>caA	p.H1251Q	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1251					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTACCCCCATGTGCCCGTTGC	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3751-3753)caC>caA		DENN/MADD domain containing 4B							44	50	48					1																	153905124		2002	4167	6169	SO:0001583	missense	9909							g.chr1:153905124G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3753C>A	1.37:g.153905124G>T	ENSP00000354597:p.His1251Gln					DENND4B_ENST00000474386.1_5'UTR	p.H1251Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		23	4171	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1251					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3753C>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648022	0.03506	.	.	ENSG00000198837	ENST00000361217	T	0.06142	3.34	5.31	0.252	0.15545	.	0.526818	0.20690	N	0.087470	T	0.00754	0.0025	N	0.03608	-0.345	0.20821	N	0.999842	B	0.19817	0.039	B	0.14023	0.01	T	0.46247	-0.9205	10	0.27082	T	0.32	-26.6206	7.4632	0.27306	0.4697:0.0:0.5303:0.0	.	1251	O75064	DEN4B_HUMAN	Q	1251	ENSP00000354597:H1251Q	ENSP00000354597:H1251Q	H	-	3	2	DENND4B	152171748	0.914000	0.31030	0.062000	0.19696	0.334000	0.28698	1.260000	0.32968	-0.097000	0.12307	-0.252000	0.11476	CAC		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	493	1	0	2.27111e-07	1	2.37892e-07	10	493					T	153905124	G	T	153905124	3	4	66	1	0	0	0	0	1	0	0	0	4450	1368	48	3	761	3	DENND4B	1	153905124	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	154829	153905124	95345497	18	7961											
DAP3	7818	broad.mit.edu	37	chr1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgagagctatttcccGcaccaatgagaatgacccgg	11	12	0	3	rs149919712		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.R50H|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000496863.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(148-150)cGc>cAc		death associated protein 3		G	HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	95	96	96		149,149,,149,149	4.3	1	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	29,29,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign,benign	50/399,50/365,,50/399,50/399	155686900	1,13005	2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155686900G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.149G>A	1.37:g.155686900G>A	ENSP00000357320:p.Arg50His					DAP3_ENST00000535183.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	p.R50H	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			3	273	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		50					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.149G>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380775	0.42207	0.0	1.16E-4	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.7;0.7;0.73	5.2	4.27	0.50696	.	0.376195	0.29389	N	0.012299	T	0.28466	0.0704	M	0.67397	2.05	0.49389	D	0.999788	B;B;B	0.33883	0.111;0.111;0.43	B;B;B	0.21917	0.008;0.008;0.037	T	0.37753	-0.9692	10	0.62326	D	0.03	-1.3092	10.2787	0.43526	0.1459:0.0:0.8541:0.0	.	50;50;50	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	H	50	ENSP00000357320:R50H;ENSP00000341692:R50H;ENSP00000412605:R50H	ENSP00000341692:R50H	R	+	2	0	DAP3	153953524	0.564000	0.26602	0.971000	0.41717	0.650000	0.38633	2.796000	0.47869	2.698000	0.92095	0.591000	0.81541	CGC		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		8	1101	0	0	0	1	0	8	1101					A	155686900	G	A	155686900	3	1	66	1	0	0	0	0	1	0	0	0	4245	1087	38	1	155	1	DAP3	1	155686900	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1781776	155686900	93563721	19	7962											
CCT3	7203	broad.mit.edu	37	chr1	156287015	156287015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctgtgatattggcccGcataaggtagtgctgagcta	14	7	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156287015G>A	ENST00000295688.3	-	10	1196	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	CCT3_ENST00000368261.3_Missense_Mutation_p.R261W|CCT3_ENST00000368259.2_Missense_Mutation_p.R268W|CCT3_ENST00000472765.2_Missense_Mutation_p.R261W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	306					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATATTGGCCCGCATAAGGTAG	0.438																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(916-918)Cgg>Tgg		chaperonin containing TCP1, subunit 3 (gamma)							156	149	152					1																	156287015		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156287015G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.916C>T	1.37:g.156287015G>A	ENSP00000295688:p.Arg306Trp					CCT3_ENST00000472765.2_Missense_Mutation_p.R261W|CCT3_ENST00000368259.2_Missense_Mutation_p.R268W|CCT3_ENST00000368261.3_Missense_Mutation_p.R261W	p.R306W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			10	1196	-	Hepatocellular(266;0.158)		306					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.916C>T	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024561	0.54683	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	6.14	4.24	0.50183	.	0.127553	0.51477	N	0.000084	T	0.36853	0.0982	L	0.31371	0.925	0.43830	D	0.996403	B;B;B	0.23490	0.008;0.019;0.086	B;B;B	0.20184	0.008;0.007;0.028	T	0.40156	-0.9578	10	0.87932	D	0	-7.3889	9.5181	0.39117	0.0:0.1396:0.5712:0.2892	.	268;305;306	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	W	306;268;261;261	ENSP00000295688:R306W;ENSP00000357242:R268W;ENSP00000357244:R261W;ENSP00000431543:R261W	ENSP00000295688:R306W	R	-	1	2	CCT3	154553639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.121000	0.41977	0.888000	0.36160	-0.185000	0.12909	CGG		0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		7	816	0	0	0	1	0	7	816					A	156287015	G	A	156287015	3	1	66	1	0	0	0	0	1	0	0	0	2963	1086	38	1	741	1	CCT3	1	156287015	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	600115	156287015	92963606	20	7963											
APOA1BP	128240	broad.mit.edu	37	chr1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-													agccaaccatctattaccccAaaaggcctaacaagcccctc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(430-432)aafs		apolipoprotein A-I binding protein							171	172	172					1																	156562376		2203	4300	6503	SO:0001589	frameshift_variant	128240					extracellular region	protein binding	g.chr1:156562376delA	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.430delA	1.37:g.156562376delA	ENSP00000357218:p.Lys144fs					APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs	p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			4	473	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		144			YjeF N-terminal.			Frame_Shift_Del	DEL	ENST00000368235.3	37	c.430delA	CCDS1145.1																																																																																				0.567	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	2062						7	2062	---	---	---	---	-	156562376	A	-	156562376	7	5	66	1	0	1	0	1	0	0	0	0	781	131	5	0	444	0	APOA1BP	1	156562376	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	275361	156562376	92688245	21	7964											
PRCC	5546	broad.mit.edu	37	chr1	156756500	156756500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccatgccttctcccGcaaaccctcggatggctccc	7	21	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156756500G>A	ENST00000271526.4	+	3	889	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.R206H	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	206					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCTCCCGCAAACCCTCG	0.552			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(616-618)cGc>cAc		papillary renal cell carcinoma (translocation-associated)							108	108	108					1																	156756500		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756500G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.617G>A	1.37:g.156756500G>A	ENSP00000271526:p.Arg206His					PRCC_ENST00000353233.3_Missense_Mutation_p.R206H|PRCC_ENST00000491853.1_3'UTR	p.R206H	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			3	889	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		206					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.617G>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206513	0.79127	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.52526	0.66;0.8	5.67	5.67	0.87782	.	0.059882	0.64402	D	0.000003	T	0.36331	0.0963	N	0.14661	0.345	0.40079	D	0.976116	D;D	0.76494	0.998;0.999	P;P	0.60117	0.818;0.869	T	0.42396	-0.9454	10	0.62326	D	0.03	-5.7113	11.7614	0.51905	0.0805:0.0:0.9195:0.0	.	206;206	A6NG79;Q92733	.;PRCC_HUMAN	H	206;206;150	ENSP00000271526:R206H;ENSP00000339300:R206H	ENSP00000271526:R206H	R	+	2	0	PRCC	155023124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.489000	0.60309	2.670000	0.90874	0.655000	0.94253	CGC		0.552	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		10	877	0	0	0	1	0	10	877					A	156756500	G	A	156756500	3	1	66	1	0	0	0	0	1	0	0	0	12494	1087	38	1	627	1	PRCC	1	156756500	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	194124	156756500	92494121	22	7965											
OR10K2	391107	broad.mit.edu	37	chr1	158390071	158390071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcatgaagatgacaatctGactaaagtggttatggtgag	13	4	1	5			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:158390071G>A	ENST00000314902.2	-	1	585	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGACAATCTGACTAAAGTGG	0.438																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(586-588)Cag>Tag		olfactory receptor, family 10, subfamily K, member 2							151	133	139					1																	158390071		2203	4300	6503	SO:0001587	stop_gained	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390071G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.586C>T	1.37:g.158390071G>A	ENSP00000324251:p.Gln196*						p.Q196*	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	585	-	all_hematologic(112;0.0378)		196						Nonsense_Mutation	SNP	ENST00000314902.2	37	c.586C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	6.590	0.477260	0.12521	.	.	ENSG00000180708	ENST00000314902	.	.	.	4.13	2.14	0.27477	.	0.000000	0.44688	D	0.000432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.8166	0.08818	0.0921:0.1662:0.5698:0.1718	.	.	.	.	X	196	.	ENSP00000324251:Q196X	Q	-	1	0	OR10K2	156656695	0.011000	0.17503	0.079000	0.20413	0.006000	0.05464	0.554000	0.23407	0.445000	0.26639	-0.532000	0.04303	CAG		0.438	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		191	605	0	0	0	1	0	191	605					A	158390071	G	A	158390071	4	1	66	1	0	0	0	0	0	1	0	0	10956	1299	45	2	354	2	OR10K2	1	158390071	Nonsense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1633571	158390071	90860550	23	7966											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		6	476	0	0	0	1	0	6	476					A	162769603	G	A	162769603	3	1	66	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4379532	162769603	86481018	24	7967											
DCAF6	55827	broad.mit.edu	37	chr1	168034905	168034905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattttcatctgggatcgGcacactgctgagcatttgat	9	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:168034905G>A	ENST00000312263.6	+	16	2448	c.2244G>A	c.(2242-2244)cgG>cgA	p.R748R	DCAF6_ENST00000367843.3_Silent_p.R768R|DCAF6_ENST00000367840.3_Silent_p.R839R|DCAF6_ENST00000432587.2_Silent_p.R808R	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGGATCGGCACACTGCTG	0.413																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2515-2517)cgG>cgA		DDB1 and CUL4 associated factor 6							75	72	73					1																	168034905		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168034905G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2244G>A	1.37:g.168034905G>A						DCAF6_ENST00000312263.6_Silent_p.R748R|DCAF6_ENST00000432587.2_Silent_p.R808R|DCAF6_ENST00000367843.3_Silent_p.R768R	p.R839R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			19	2611	+			748					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.2517G>A	CCDS30933.1																																																																																				0.413	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		5	397	0	0	0	1	0	5	397					A	168034905	G	A	168034905	2	1	66	1	0	0	0	0	0	0	0	1	4285	1190	42	2		2	DCAF6	1	168034905	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5265302	168034905	81215716	25	7968											
RASAL2	9462	broad.mit.edu	37	chr1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A													acaaggatgtggaaaaaaagINSaaaaaaaaggacaagaataa							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	975						8	975	---	---	---	---	A	178412041	-	A	178412040	7	5	66	1	0	1	1	0	0	0	0	0	13114	933	33	0	1205	0	RASAL2	1	178412040	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	10377135	178412040	70838581	26	7969											
PRG4	10216	broad.mit.edu	37	chr1	186276092	186276094	+	In_Frame_Del	DEL	CCA	CCA	-													cactcccaaggagcctgcacCcaccaccaccaaggagcctg					rs112431404		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276092_186276094delCCA	ENST00000445192.2	+	7	1286_1288	c.1241_1243delCCA	c.(1240-1245)cccacc>ccc	p.T417del	PRG4_ENST00000367485.4_In_Frame_Del_p.T324del|PRG4_ENST00000367486.3_In_Frame_Del_p.T374del|PRG4_ENST00000367483.4_In_Frame_Del_p.T376del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						GAGCCTGCACCCACCACCACCAA	0.66																																						ENST00000445192.2																			0				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						c.(1240-1245)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276092_186276094delCCA	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.1241_1243delCCA	1.37:g.186276101_186276103delCCA	ENSP00000399679:p.Thr417del					PRG4_ENST00000367483.4_In_Frame_Del_p.PT373del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT371del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT321del|PRG4_ENST00000367484.3_Intron	p.PT414del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1286_1288	+			414			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1241_1243delCCA	CCDS1369.1																																																																																				0.66	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1428						8	1428	---	---	---	---	-	186276094	CCA	-	186276092	7	5	66	1	0	1	0	1	0	0	0	0	12528	623	22	0	1263	0	PRG4	1	186276092	In_Frame_Del	DEL	CCA	TCGA-HV-A7OP-01A-11D-A33T-08	7864052	186276092	62974529	27	7970			1	13		3	3	473	N	CCA_C_A	1.033832e-05
PRG4	10216	broad.mit.edu	37	chr1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctgcacccaccactAccaaggagcctgcacccacc	6	20	1	0	rs549460989	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						ACCCACCACTACCAAGGAGCC	0.632													-|||	19	0.00379393	0.0023	0.0043	5008	,	,		6988	0.004		0.005	False		,,,				2504	0.0041					ENST00000445192.2																			0				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						c.(1600-1602)Acc>Ccc		proteoglycan 4							135	121	126					1																	186276451		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276451A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1600A>C	1.37:g.186276451A>C	ENSP00000399679:p.Thr534Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P	p.T534P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1645	+			534			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1600A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	3.488	-0.104447	0.06967	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.47;3.58;3.45;3.54	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.46048	-0.9219	8	.	.	.	.	11.4218	0.49987	0.2019:0.69:0.0:0.1082	.	400;441;534;493	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	491;400;493;441;534	ENSP00000356456:T491P;ENSP00000356453:T493P;ENSP00000356455:T441P;ENSP00000399679:T534P	.	T	+	1	0	PRG4	184543074	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.298000	0.00193	0.000000	0.15137	ACC		0.632	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		17	1289	0	0	0	1	0	17	1289					C	186276451	A	C	186276451	3	2	66	1	0	0	0	0	1	0	0	0	12528	391	14	4	1622	4	PRG4	1	186276451	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	359	186276451	62974170	28	7971			1	13		3	3	473	N	CCA_C_A	1.033832e-05
PRG4	10216	broad.mit.edu	37	chr1	186276564	186276564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggagcctgcacccacCacccccaagaagcctgcccc	7	22	0	1	rs534202903		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367483.4_Silent_p.T530T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T571T(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						CTGCACCCACCACCCCCAAGA	0.642													-|||	1	0.000199681	0.0	0.0	5008	,	,		7966	0.0		0.001	False		,,,				2504	0.0					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T571T(1)	prostate(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						c.(1711-1713)acC>acT		proteoglycan 4							99	98	98					1																	186276564		2203	4297	6500	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276564C>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.1713C>T	1.37:g.186276564C>T						PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T	p.T571T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1758	+			571			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1713C>T	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	963	0	0	0	1	0	14	963					T	186276564	C	T	186276564	2	4	66	1	0	0	0	0	0	0	0	1	12528	581	21	2		2	PRG4	1	186276564	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	113	186276564	62974057	29	7972			1	13		3	3	473	N	CCA_C_A	1.033832e-05
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	10	11	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGTGTTCCCGCAGCCAGATT	0.507																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)Cgg>Tgg		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						142	131	135					1																	186645692		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645692G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.877C>T	1.37:g.186645692G>A	ENSP00000356438:p.Arg293Trp					PTGS2_ENST00000490885.2_5'UTR	p.R293W	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			7	1013	-			293					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.877C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661102	0.67700	.	.	ENSG00000073756	ENST00000367468	D	0.81499	-1.5	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94695	0.7877	10	0.87932	D	0	-21.2931	13.7625	0.62975	0.0:0.0:0.6055:0.3945	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	W	293	ENSP00000356438:R293W	ENSP00000356438:R293W	R	-	1	2	PTGS2	184912315	0.980000	0.34600	0.944000	0.38274	0.794000	0.44872	1.795000	0.38784	1.321000	0.45227	-0.158000	0.13435	CGG		0.507	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	993	0	0	0	1	0	8	993					A	186645692	G	A	186645692	3	1	66	1	0	0	0	0	1	0	0	0	12804	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	369128	186645692	62604929	30	7973											
FAM5C	339479	broad.mit.edu	37	chr1	190067701	190067701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcacaggcataaaccagCtctcagagtggctgcctccg	9	14	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:190067701C>T	ENST00000367462.3	-	8	1979	c.1748G>A	c.(1747-1749)aGc>aAc	p.S583N	BRINP3_ENST00000534846.1_Missense_Mutation_p.S481N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	583					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CATAAACCAGCTCTCAGAGTG	0.468																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1747-1749)aGc>aAc									108	113	112					1																	190067701		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067701C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1748G>A	1.37:g.190067701C>T	ENSP00000356432:p.Ser583Asn					FAM5C_ENST00000534846.1_Missense_Mutation_p.S481N|FAM5C_ENST00000484105.1_5'UTR	p.S583N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1979	-	Prostate(682;0.198)		583					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1748G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858923	0.71834	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25912	2.02;1.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	T	0.50448	-0.8827	10	0.72032	D	0.01	-2.16	17.5848	0.87978	0.0:1.0:0.0:0.0	.	481;583	B7Z260;Q76B58	.;FAM5C_HUMAN	N	583;481	ENSP00000356432:S583N;ENSP00000438022:S481N	ENSP00000356432:S583N	S	-	2	0	FAM5C	188334324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.755000	0.94549	0.591000	0.81541	AGC		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		344	1051	0	0	0	1	0	344	1051					T	190067701	C	T	190067701	3	4	66	1	0	0	0	0	1	0	0	0	5619	797	28	2	556	2	FAM5C	1	190067701	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3422009	190067701	59182920	31	7974											
ASPM	259266	broad.mit.edu	37	chr1	197072497	197072497	+	Frame_Shift_Del	DEL	T	T	-													ttgaagctgtcttctcagtgTttttcccttccacatagatt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197072497delT	ENST00000367409.4	-	18	6140	c.5884delA	c.(5884-5886)acafs	p.T1962fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1962	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTCTCAGTGTTTTTCCCTTC	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5884-5886)cafs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							223	217	219					1																	197072497		2203	4299	6502	SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072497delT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5884delA	1.37:g.197072497delT	ENSP00000356379:p.Thr1962fs					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.T1962fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6140	-			1962			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	ENST00000367409.4	37	c.5884delA	CCDS1389.1																																																																																				0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	2084						9	2084	---	---	---	---	-	197072497	T	-	197072497	7	5	66	1	0	1	0	1	0	0	0	0	1057	1725	60	0	4593	0	ASPM	1	197072497	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	7004796	197072497	52178124	32	7975											
ASPM	259266	broad.mit.edu	37	chr1	197097650	197097650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacattgcaagtctacgGcaagatttgtaacggcaaaa	8	10	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197097650G>A	ENST00000367409.4	-	10	3162	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	ASPM_ENST00000367408.1_Missense_Mutation_p.A219V|ASPM_ENST00000294732.7_Missense_Mutation_p.A969V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	969	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAGTCTACGGCAAGATTTGT	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2905-2907)gCc>gTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							121	116	118					1																	197097650		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197097650G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2906C>T	1.37:g.197097650G>A	ENSP00000356379:p.Ala969Val					ASPM_ENST00000294732.7_Missense_Mutation_p.A969V|ASPM_ENST00000367408.1_Missense_Mutation_p.A219V	p.A969V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			10	3162	-			969			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2906C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594647	0.96602	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59638	0.25;0.25;0.25	5.77	5.77	0.91146	Calponin homology domain (4);	0.074702	0.56097	D	0.000036	T	0.74906	0.3778	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.73436	-0.3983	10	0.54805	T	0.06	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	969;969	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	969;969;219	ENSP00000356379:A969V;ENSP00000294732:A969V;ENSP00000356378:A219V	ENSP00000294732:A969V	A	-	2	0	ASPM	195364273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC		0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	934	0	0	0	1	0	6	934					A	197097650	G	A	197097650	3	1	66	1	0	0	0	0	1	0	0	0	1057	1203	42	2	7603	2	ASPM	1	197097650	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	25153	197097650	52152971	33	7976											
TNNT2	7139	broad.mit.edu	37	chr1	201332505	201332507	+	In_Frame_Del	DEL	CTC	CTC	-													tcctcagccttcctcctgttCtcctcctcctctcgtcgagc					rs397516470		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:201332505_201332507delCTC	ENST00000509001.1	-	11	773_775	c.487_489delGAG	c.(487-489)gagdel	p.E163del	TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del|TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	173					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCCTGTTCTCCTCCTCCTCT	0.522																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20	GRCh37	CD951865|CM951220	TNNT2	D|M		c.(487-489)del		troponin T type 2 (cardiac)																																				SO:0001651	inframe_deletion	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201332505_201332507delCTC	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.487_489delGAG	1.37:g.201332514_201332516delCTC	ENSP00000422031:p.Glu163del					TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del|TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR	p.E163del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			11	773_775	-			173					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	In_Frame_Del	DEL	ENST00000509001.1	37	c.487_489delGAG	CCDS30969.1																																																																																				0.522	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		7	1721						7	1721	---	---	---	---	-	201332507	CTC	-	201332505	7	5	66	1	0	1	0	1	0	0	0	0	16383	912	32	0	404	0	TNNT2	1	201332505	In_Frame_Del	DEL	CTC	TCGA-HV-A7OP-01A-11D-A33T-08	4234855	201332505	47918116	34	7977											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		7	1135	0	0	0	1	0	7	1135					T	204170871	C	T	204170871	2	4	66	1	0	0	0	0	0	0	0	1	6599	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2838366	204170871	45079750	35	7978											
RAB7L1	8934	broad.mit.edu	37	chr1	205741648	205741648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcccacagctgaagccGcactatctcgtagtcagacc	7	14	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:205741648G>A	ENST00000367139.3	-	3	475	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		58					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTGAAGCCGCACTATCTCG	0.373																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(172-174)Cgg>Tgg		RAB7, member RAS oncogene family-like 1							156	169	165					1																	205741648		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741648G>A																												ENST00000367139.3:c.172C>T	1.37:g.205741648G>A	ENSP00000356107:p.Arg58Trp					RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W	p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	475	-	Breast(84;0.0799)		58					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.172C>T	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098539	0.56183	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	3.31	0.37934	Small GTP-binding protein domain (1);	0.061028	0.64402	D	0.000015	D	0.89312	0.6679	M	0.91972	3.26	0.35934	D	0.83274	D	0.89917	1.0	D	0.85130	0.997	D	0.93256	0.6639	10	0.87932	D	0	-4.8893	12.3176	0.54966	0.0:0.0:0.5651:0.4349	.	58	O14966	RAB7L_HUMAN	W	58	ENSP00000356107:R58W;ENSP00000235932:R58W;ENSP00000402910:R58W	ENSP00000235932:R58W	R	-	1	2	RAB7L1	204008271	0.999000	0.42202	0.998000	0.56505	0.499000	0.33736	2.116000	0.41930	1.202000	0.43218	0.561000	0.74099	CGG		0.373	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			10	1700	0	0	0	1	0	10	1700					A	205741648	G	A	205741648	3	1	66	1	0	0	0	0	1	0	0	0	13005	1086	38	1	455	1	RAB7L1	1	205741648	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1570777	205741648	43508973	36	7979											
DYRK3	8444	broad.mit.edu	37	chr1	206821440	206821441	+	Frame_Shift_Ins	INS	-	-	A													tagacctttatgagctgattINSaaaaaaaataagtttcaggg					rs199522696	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:206821440_206821441insA	ENST00000367109.2	+	3	1065_1066	c.897_898insA	c.(898-900)aaafs	p.K300fs	DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.K280fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Frame_Shift_Ins_p.K280fs	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGAGCTGATTAAAAAAAATAA	0.406																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(835-840)ataaaafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3																																				SO:0001589	frameshift_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821440_206821441insA	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.905dupA	1.37:g.206821448_206821448dupA	ENSP00000356076:p.Lys300fs					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.IK299fs|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.IK279fs	p.IK279fs			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1310_1311	+	Breast(84;0.183)		299			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Frame_Shift_Ins	INS	ENST00000367109.2	37	c.837_838insA	CCDS30999.1																																																																																				0.406	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		8	1457						8	1457	---	---	---	---	A	206821441	-	A	206821440	7	5	66	1	0	1	1	0	0	0	0	0	4873	1742	61	0	928	0	DYRK3	1	206821440	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	1079792	206821440	42429181	37	7980											
CR1L	1379	broad.mit.edu	37	chr1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-													gcaatcttggaagcagagggAaaaaggtgtttgagcttgtg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aaafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(580-582)aafs		complement component (3b/4b) receptor 1-like							215	196	202					1																	207867814		1922	4144	6066	SO:0001589	frameshift_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207867814delA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.580delA	1.37:g.207867814delA	ENSP00000421736:p.Lys195fs					CR1L_ENST00000530905.1_Intron	p.K195fs	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	640	+			195			Sushi 3.		Q32MC9|Q8NEU7	Frame_Shift_Del	DEL	ENST00000508064.2	37	c.580delA	CCDS44310.1																																																																																				0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		7	1843						7	1843	---	---	---	---	-	207867814	A	-	207867814	7	5	66	1	0	1	0	1	0	0	0	0	3850	247	9	0	598	0	CR1L	1	207867814	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	1046374	207867814	41382807	38	7981											
RD3	343035	broad.mit.edu	37	chr1	211652533	211652533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggctgccgcggggccGcaggctccactggcgcgtca	17	16	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:211652533G>A	ENST00000367002.4	-	3	1596	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	145					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCGCGGGGCCGCAGGCTCCAC	0.682																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(433-435)Cgg>Tgg		retinal degeneration 3							23	22	23					1																	211652533		2200	4296	6496	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211652533G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.433C>T	1.37:g.211652533G>A	ENSP00000355969:p.Arg145Trp					RD3_ENST00000484910.1_5'UTR	p.R145W	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1596	-			145					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.433C>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997699	0.54147	.	.	ENSG00000198570	ENST00000367002	T	0.13089	2.62	4.33	0.889	0.19212	.	0.310531	0.32608	N	0.005867	T	0.15739	0.0379	M	0.68952	2.095	0.33741	D	0.619458	B	0.25007	0.116	B	0.19391	0.025	T	0.21348	-1.0248	10	0.87932	D	0	-17.1619	12.376	0.55281	0.0:0.0:0.301:0.699	.	145	Q7Z3Z2	RD3_HUMAN	W	145	ENSP00000355969:R145W	ENSP00000355969:R145W	R	-	1	2	RD3	209719156	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.776000	0.47709	0.337000	0.23665	0.555000	0.69702	CGG		0.682	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		4	206	0	0	0	1	0	4	206					A	211652533	G	A	211652533	3	1	66	1	0	0	0	0	1	0	0	0	13237	1086	38	1	158	1	RD3	1	211652533	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3784719	211652533	37598088	39	7982											
NSL1	25936	broad.mit.edu	37	chr1	212911779	212911779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagattaattttctttggccGcaatggataccattttctct	6	8	2	1	rs147647532	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:212911779G>A	ENST00000366977.3	-	6	835	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000366975.6_Missense_Mutation_p.R232W	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	273					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TTCTTTGGCCGCAATGGATAC	0.388													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0					ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(817-819)Cgg>Tgg		NSL1, MIS12 kinetochore complex component		G	,TRP/ARG	0,4406		0,0,2203	124	125	125		,817	4.6	0.9	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	NSL1	NM_001042549.1,NM_015471.3	,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,273/282	212911779	1,13005	2203	4300	6503	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212911779G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.817C>T	1.37:g.212911779G>A	ENSP00000355944:p.Arg273Trp					NSL1_ENST00000366975.6_Missense_Mutation_p.R232W|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR	p.R273W	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	6	835	-			273					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.817C>T	CCDS1509.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.87	3.906807	0.72868	0.0	1.16E-4	ENSG00000117697	ENST00000366977;ENST00000366975	T;T	0.40225	1.06;1.04	5.51	4.59	0.56863	.	0.640836	0.15946	N	0.236960	T	0.61098	0.2320	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65573	0.869;0.936	T	0.63559	-0.6610	10	0.87932	D	0	-7.7411	13.4969	0.61432	0.0:0.0:0.8436:0.1564	.	232;273	B4E071;Q96IY1	.;NSL1_HUMAN	W	273;232	ENSP00000355944:R273W;ENSP00000355942:R232W	ENSP00000355942:R232W	R	-	1	2	NSL1	210978402	0.903000	0.30736	0.875000	0.34327	0.896000	0.52359	1.110000	0.31147	1.447000	0.47661	0.650000	0.86243	CGG		0.388	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		7	1222	0	0	0	1	0	7	1222					A	212911779	G	A	212911779	3	1	66	1	0	0	0	0	1	0	0	0	10715	1086	38	1	32	1	NSL1	1	212911779	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1259246	212911779	36338842	40	7983											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-													ggagaattagatactatgtcAaaaaaaaccacggcactgga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5911-5913)tcfs		centromere protein F, 350/400kDa				15,4251		3,9,2121	53	58	56			1.9	0.1	1		57	17,8235		5,7,4114	no	frameshift	CENPF	NM_016343.3		8,16,6235	A1A1,A1R,RR		0.206,0.3516,0.2556			214818826	32,12486	2203	4300	6503	SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818826delA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5913delA	1.37:g.214818826delA	ENSP00000355922:p.Ser1971fs						p.S1971fs	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6081	+			2067					Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.5913delA	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		9	716						9	716	---	---	---	---	-	214818826	A	-	214818826	7	5	66	1	0	1	0	1	0	0	0	0	3240	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	1907047	214818826	34431795	41	7984											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	1250	0	0	0	1	0	10	1250					T	223176649	C	T	223176649	3	4	66	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	8357823	223176649	26073972	42	7985											
WNT3A	89780	broad.mit.edu	37	chr1	228238532	228238532	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggacatcgagtttggtggGatggtgtctcgggagttcgc	18	6	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:228238532G>T	ENST00000284523.1	+	3	567	c.489G>T	c.(487-489)ggG>ggT	p.G163G	WNT3A_ENST00000366753.2_Silent_p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	163					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AGTTTGGTGGGATGGTGTCTC	0.667																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(487-489)ggG>ggT		wingless-type MMTV integration site family, member 3A							107	102	104					1																	228238532		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238532G>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.489G>T	1.37:g.228238532G>T						WNT3A_ENST00000366753.2_Silent_p.G163G	p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			3	567	+		Prostate(94;0.0405)	163					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.489G>T	CCDS1564.1																																																																																				0.667	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		16	513	1	0	4.7546e-09	1	5.04415e-09	16	513					T	228238532	G	T	228238532	2	4	66	1	0	0	0	0	0	0	0	1	17443	1161	41	3		3	WNT3A	1	228238532	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5061883	228238532	21012089	43	7986											
COG2	22796	broad.mit.edu	37	chr1	230805103	230805103	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaccttttcttgcagcGtatagctggcattacagcca	7	13	1	0	rs147719039		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:230805103G>A	ENST00000366669.4	+	7	711	c.596G>A	c.(595-597)cGt>cAt	p.R199H	COG2_ENST00000534989.1_Splice_Site_p.R140H|COG2_ENST00000366668.3_Splice_Site_p.R199H|COG2_ENST00000535166.1_Splice_Site_p.R83H	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.R199H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCTTGCAGCGTATAGCTGGC	0.418																																						ENST00000534989.1																			1	Substitution - Missense(1)	p.R199H(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.e7-1		component of oligomeric golgi complex 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	107	107		596,596	5.5	1	1	dbSNP_134	107	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805103	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805103G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.595-1G>A	1.37:g.230805103G>A						COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Splice_Site_p.R83_splice|COG2_ENST00000366669.4_Splice_Site_p.R199_splice	p.R140_splice			Q14746	COG2_HUMAN			7	754	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	199					Q86U99	Splice_Site	SNP	ENST00000366669.4	37	c.417_splice	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222944	0.95139	2.27E-4	0.0	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.66991	-0.5783	10	0.87932	D	0	-13.1793	19.2959	0.94122	0.0:0.0:1.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	H	199;83;199;140	ENSP00000355629:R199H;ENSP00000445724:R83H;ENSP00000355628:R199H;ENSP00000440349:R140H	ENSP00000355628:R199H	R	+	2	0	COG2	228871726	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	9.579000	0.98204	2.564000	0.86499	0.655000	0.94253	CGT		0.418	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Missense_Mutation	6	864	0	0	0	1	0	6	864					A	230805103	G	A	230805103	5	1	66	1	0	0	0	0	0	0	1	0	3667	1159	40	1	622	1	COG2	1	230805103	Splice_Site	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2566571	230805103	18445518	44	7987											
KIAA1804	84451	broad.mit.edu	37	chr1	233489603	233489603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaagtcccctatcgggGcattgatggcctcgccgtgg	15	12	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:233489603G>A	ENST00000366624.3	+	3	1298	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	NM_032435.2	NP_115811.2																					CCCTATCGGGGCATTGATGGC	0.517																																						ENST00000366624.3																			0											c.(1036-1038)gGc>gAc									111	103	106					1																	233489603		2203	4300	6503	SO:0001583	missense	0							g.chr1:233489603G>A																												ENST00000366624.3:c.1037G>A	1.37:g.233489603G>A	ENSP00000355583:p.Gly346Asp					MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	p.G346D	NM_032435.2	NP_115811.2					3	1298	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1037G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817960	0.71028	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.90133	-2.62;-2.62	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	L	0.39085	1.19	0.80722	D	1	D;D	0.56287	0.975;0.963	D;P	0.63877	0.919;0.767	D	0.90114	0.4194	10	0.26408	T	0.33	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	346;346	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	346	ENSP00000355582:G346D;ENSP00000355583:G346D	ENSP00000355582:G346D	G	+	2	0	RP5-862P8.2	231556226	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.648000	0.98483	2.538000	0.85594	0.563000	0.77884	GGC		0.517	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			33	879	0	0	0	1	0	33	879					A	233489603	G	A	233489603	3	1	66	1	0	0	0	0	1	0	0	0	8289	1203	42	2	1047	2	KIAA1804	1	233489603	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2684500	233489603	15761018	45	7988											
RYR2	6262	broad.mit.edu	37	chr1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-													ttcttggacactataacaacTttttttttgccgctcacctt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					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)			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)			CTATAACAACTTTTTTTTTGC	0.403																																						ENST00000366574.2																			0				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						c.(14209-14211)ttfs		ryanodine receptor 2 (cardiac)							241	211	220					1																	237969494		1888	4108	5996	SO:0001589	frameshift_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.chr1:237969494delT	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.14209delT	1.37:g.237969494delT	ENSP00000355533:p.Phe4739fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	p.F4739fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4739					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14209delT	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	427						11	427	---	---	---	---	-	237969494	T	-	237969494	7	5	66	1	0	1	0	1	0	0	0	0	13819	1609	56	0	14603	0	RYR2	1	237969494	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	4479891	237969494	11281127	46	7989											
OR6F1	343169	broad.mit.edu	37	chr1	247875338	247875338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgagatgcgaggagcaCgtggagaaggctttgctccg	17	8	0	2	rs376931741	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:247875338C>T	ENST00000302084.2	-	1	767	c.720G>A	c.(718-720)acG>acA	p.T240T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCGAGGAGCACGTGGAGAAGG	0.527													C|||	4	0.000798722	0.003	0.0	5008	,	,		22682	0.0		0.0	False		,,,				2504	0.0					ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(718-720)acG>acA		olfactory receptor, family 6, subfamily F, member 1		C		5,4401	9.9+/-24.2	0,5,2198	116	106	109		720	-7.4	0	1		109	0,8600		0,0,4300	no	coding-synonymous	OR6F1	NM_001005286.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		240/309	247875338	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875338C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.720G>A	1.37:g.247875338C>T						RP11-634B7.4_ENST00000449298.1_RNA	p.T240T	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	767	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		240					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.720G>A	CCDS31095.1																																																																																				0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		85	905	0	0	0	1	0	85	905					T	247875338	C	T	247875338	2	4	66	1	0	0	0	0	0	0	0	1	11243	523	19	1		1	OR6F1	1	247875338	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	9905844	247875338	1375283	47	7990											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg					rs372045862		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45	47	46					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		17	909						17	909	---	---	---	---	-	248437112	T	-	248437112	7	5	66	1	0	1	0	1	0	0	0	0	11066	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	561774	248437112	813509	48	7991											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	498						7	498	---	---	---	---	-	20482979	GCT	-	20482977	7	5	66	1	0	1	0	1	0	0	0	0	12876	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-HV-A7OP-01A-11D-A33T-08		20482977	222716396	49	7992											
KCNK3	3777	broad.mit.edu	37	chr2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccagagcctgggcgagcGcatcaacaccttggtgaggt	14	11	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCGAGCGCATCAACACC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(391-393)cGc>cAc		potassium channel, subfamily K, member 3							86	78	81					2																	26950643		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950643G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His						p.R131H	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	517	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.392G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	KCNK3	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		6	556	0	0	0	1	0	6	556					A	26950643	G	A	26950643	3	1	66	1	0	0	0	0	1	0	0	0	8097	1087	38	1	398	1	KCNK3	2	26950643	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	6467666	26950643	216248730	50	7993											
MAPRE3	22924	broad.mit.edu	37	chr2	27248501	27248501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacatgcagacctctggcCggctgagcaatgtggccccc	11	14	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:27248501C>T	ENST00000233121.2	+	5	718	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	174					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCTGGCCGGCTGAGCAA	0.577																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(520-522)Cgg>Tgg		microtubule-associated protein, RP/EB family, member 3							62	60	61					2																	27248501		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27248501C>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.520C>T	2.37:g.27248501C>T	ENSP00000233121:p.Arg174Trp					MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W|MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W	p.R174W			Q9UPY8	MARE3_HUMAN			5	718	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		174					B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.520C>T	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.028586	0.75390	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.48201	0.82;0.82;0.86;0.82	4.95	4.95	0.65309	.	0.309930	0.30260	N	0.010038	T	0.57344	0.2047	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.64830	0.994;0.029	P;B	0.51999	0.687;0.008	T	0.62987	-0.6737	10	0.72032	D	0.01	-10.2383	16.97	0.86296	0.0:1.0:0.0:0.0	.	159;174	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	W	174;159;174;159	ENSP00000233121:R174W;ENSP00000383915:R159W;ENSP00000391705:R174W;ENSP00000385715:R159W	ENSP00000233121:R174W	R	+	1	2	MAPRE3	27102005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.666000	0.46799	2.310000	0.77875	0.556000	0.70494	CGG		0.577	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		21	405	0	0	0	1	0	21	405					T	27248501	C	T	27248501	3	4	66	1	0	0	0	0	1	0	0	0	9337	643	23	1	534	1	MAPRE3	2	27248501	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	297858	27248501	215950872	51	7994											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		15	573						15	573	---	---	---	---	-	39095413	CCA	-	39095411	7	5	66	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-HV-A7OP-01A-11D-A33T-08	11846910	39095411	204103962	52	7995											
FOXN2	3344	broad.mit.edu	37	chr2	48573666	48573667	+	Frame_Shift_Ins	INS	-	-	A													agcttgctaccagaacccagINSaaaaaaaatcagcgacttca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:48573666_48573667insA	ENST00000340553.3	+	3	574_575	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	105					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATCA	0.431																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(313-315)aaafs		forkhead box N2																																				SO:0001589	frameshift_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573666_48573667insA		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.321dupA	2.37:g.48573674_48573674dupA	ENSP00000343633:p.Glu105fs						p.K105fs	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	574_575	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	105					Q15769|Q6P4Q2	Frame_Shift_Ins	INS	ENST00000340553.3	37	c.313_314insA	CCDS1838.1																																																																																				0.431	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		7	729						7	729	---	---	---	---	A	48573667	-	A	48573666	7	5	66	1	0	1	1	0	0	0	0	0	6047	943	33	0	315	0	FOXN2	2	48573666	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	9478255	48573666	194625707	53	7996											
SPTBN1	6711	broad.mit.edu	37	chr2	54855304	54855304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttacagaagcacacccTggttgaagcagacattggca	10	11	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:54855304T>G	ENST00000356805.4	+	13	1996	c.1715T>G	c.(1714-1716)cTg>cGg	p.L572R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L559R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	572					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCACACCCTGGTTGAAGCA	0.517																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1675-1677)cTg>cGg		spectrin, beta, non-erythrocytic 1							166	138	148					2																	54855304		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54855304T>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1715T>G	2.37:g.54855304T>G	ENSP00000349259:p.Leu572Arg					SPTBN1_ENST00000356805.4_Missense_Mutation_p.L572R	p.L559R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		12	2061	+			572					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1676T>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001376	0.93227	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.48201	0.82;0.82;0.82	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.71039	0.3293	M	0.80422	2.495	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.75611	-0.3258	10	0.87932	D	0	.	16.0165	0.80443	0.0:0.0:0.0:1.0	.	559;572	Q01082-3;Q01082	.;SPTB2_HUMAN	R	572;572;559	ENSP00000349259:L572R;ENSP00000374630:L572R;ENSP00000334156:L559R	ENSP00000334156:L559R	L	+	2	0	SPTBN1	54708808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.984000	0.88150	2.190000	0.69967	0.519000	0.50382	CTG		0.517	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			90	153	0	0	0	1	0	90	153					G	54855304	T	G	54855304	3	3	66	1	0	0	0	0	1	0	0	0	15171	1580	55	4	1874	4	SPTBN1	2	54855304	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	6281638	54855304	188344069	54	7997											
AUP1	165545	broad.mit.edu	37	chr2	74754875	74754875	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatacctgactgggggcGcaatctggggtgtctttgtc	13	11	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R277C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(829-831)Cgc>Tgc		ancient ubiquitous protein 1							156	170	166					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered						p.R277C	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			8	1138	-			343					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.829C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	1041	0	0	0	1	0	7	1041					A	74754875	G	A	74754875	1	1	66	0	1	0	0	0	0	0	0	0	1221	1087	38	1		1	AUP1	2	74754875	5'Flank	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	19899571	74754875	168444498	55	7998											
RANBP2	5903	broad.mit.edu	37	chr2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-													atggaggaagtgcccatgggGatgatgatgatgacggtcct							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	748						7	748	---	---	---	---	-	109380487	GAT	-	109380485	7	5	66	1	0	1	0	1	0	0	0	0	13078	1174	41	0	3568	0	RANBP2	2	109380485	In_Frame_Del	DEL	GAT	TCGA-HV-A7OP-01A-11D-A33T-08	34625610	109380485	133818888	56	7999											
SLC35F5	80255	broad.mit.edu	37	chr2	114480773	114480774	+	Splice_Site	INS	-	-	A													gaggtaagaaagcagcccctINSaaaaaaaagaaaatatacat							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:114480773_114480774insA	ENST00000245680.2	-	13	1664		c.e13-2		SLC35F5_ENST00000470204.2_Splice_Site|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaagaa	0.337																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.e13-2		solute carrier family 35, member F5																																				SO:0001630	splice_region_variant	80255				transport	integral to membrane		g.chr2:114480773_114480774insA	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1251-2->T	2.37:g.114480781_114480781dupA						SLC35F5_ENST00000470204.2_Splice_Site		NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			13	1664	-								Q9H6P8|Q9H7D8	Splice_Site	INS	ENST00000245680.2	37		CCDS2119.1																																																																																				0.337	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	Intron	7	513						7	513	---	---	---	---	A	114480774	-	A	114480773	8	5	66	1	0	1	1	0	0	0	1	0	14642	1536	53	0	334	0	SLC35F5	2	114480773	Splice_Site	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	5100288	114480773	128718600	57	8000											
R3HDM1	23518	broad.mit.edu	37	chr2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-													ctccaccgccaccaccaccaCctcctcctcctcccctacca					rs139457585		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	461						7	461	---	---	---	---	-	136409482	CCT	-	136409480	7	5	66	1	0	1	0	1	0	0	0	0	12937	507	18	0	1859	0	R3HDM1	2	136409480	In_Frame_Del	DEL	CCT	TCGA-HV-A7OP-01A-11D-A33T-08	21928707	136409480	106789893	58	8001											
CSRNP3	80034	broad.mit.edu	37	chr2	166532950	166532950	+	Frame_Shift_Del	DEL	A	A	-													ttcctacaacctttgccaacAaaaaaacgaagagctctgct							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:166532950delA	ENST00000342316.4	+	4	809	c.537delA	c.(535-537)acafs	p.T179fs	CSRNP3_ENST00000314499.7_Frame_Shift_Del_p.T179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTTTGCCAACAAAAAAACGAA	0.478																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(535-537)acfs		cysteine-serine-rich nuclear protein 3							185	189	188					2																	166532950		2203	4300	6503	SO:0001589	frameshift_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532950delA	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.537delA	2.37:g.166532950delA	ENSP00000344042:p.Thr179fs					CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs	p.T179fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	913	+			179					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Del	DEL	ENST00000342316.4	37	c.537delA	CCDS2225.1																																																																																				0.478	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	1360						9	1360	---	---	---	---	-	166532950	A	-	166532950	7	5	66	1	0	1	0	1	0	0	0	0	3976	117	5	0	547	0	CSRNP3	2	166532950	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	30123470	166532950	76666423	59	8002											
ABCB11	8647	broad.mit.edu	37	chr2	169847419	169847419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcagctcatagtccGtaaacttggacacactctaa	7	12	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:169847419G>A	ENST00000263817.6	-	9	924	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	267	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTCATAGTCCGTAAACTTGGA	0.403																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(799-801)aCg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						118	115	116					2																	169847419		1861	4111	5972	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169847419G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.800C>T	2.37:g.169847419G>A	ENSP00000263817:p.Thr267Met						p.T267M	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			9	924	-			267			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.800C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428609	0.83667	.	.	ENSG00000073734	ENST00000263817	D	0.90563	-2.69	5.4	5.4	0.78164	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	0.96408	0.8828	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96809	0.9595	10	0.87932	D	0	1.906	19.5349	0.95247	0.0:0.0:1.0:0.0	.	267	O95342	ABCBB_HUMAN	M	267	ENSP00000263817:T267M	ENSP00000263817:T267M	T	-	2	0	ABCB11	169555665	1.000000	0.71417	0.982000	0.44146	0.806000	0.45545	9.779000	0.99018	2.687000	0.91594	0.563000	0.77884	ACG		0.403	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		5	595	0	0	0	1	0	5	595					A	169847419	G	A	169847419	3	1	66	1	0	0	0	0	1	0	0	0	42	1145	40	1	3245	1	ABCB11	2	169847419	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3314469	169847419	73351954	60	8003											
LRP2	4036	broad.mit.edu	37	chr2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgaacacacttacccgGcaaaaggatgaactaccacc	6	13	0	2	rs369600443		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTTACCCGGCAAAAGGATG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15832	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2509-2511)gCc>gTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						117	114	115					2																	170115538		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115538G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2510C>T	2.37:g.170115538G>A	ENSP00000263816:p.Ala837Val					LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	p.A837V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2795	-			837					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2510C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	560	0	0	0	1	0	5	560					A	170115538	G	A	170115538	3	1	66	1	0	0	0	0	1	0	0	0	8994	1203	42	2	11709	2	LRP2	2	170115538	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	268119	170115538	73083835	61	8004											
TTN	7273	broad.mit.edu	37	chr2	179483531	179483531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaccattgtcagaggcttGccaacatcaaccacaaggtc	7	14	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179483531G>T	ENST00000591111.1	-	201	42047	c.41823C>A	c.(41821-41823)ggC>ggA	p.G13941G	TTN_ENST00000342992.6_Silent_p.G13014G|TTN_ENST00000359218.5_Silent_p.G6642G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G15582G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.G6709G			Q8WZ42	TITIN_HUMAN	titin	13941	Ig-like 95.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGGCTTGCCAACATCAA	0.413																																						ENST00000589042.1																			0				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						c.(46744-46746)ggC>ggA		titin							72	73	73					2																	179483531		1939	4144	6083	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483531G>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.41823C>A	2.37:g.179483531G>T						TTN_ENST00000359218.5_Silent_p.G6642G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN_ENST00000342992.6_Silent_p.G13014G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.G6709G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G13941G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.G15582G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		251	46970	-			13941			Fibronectin type-III 13.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.46746C>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	179	1	0	1.17739e-12	1	1.25715e-12	23	179					T	179483531	G	T	179483531	2	4	66	1	0	0	0	0	0	0	0	1	16789	1306	46	3		3	TTN	2	179483531	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9367993	179483531	63715842	62	8005											
TTN	7273	broad.mit.edu	37	chr2	179546424	179546424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggttttgtgggaactgGttcttctgggacaggcttta	13	6	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179546424G>A	ENST00000591111.1	-	134	32409	c.32185C>T	c.(32185-32187)Cca>Tca	p.P10729S	TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11046S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11690	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGAACTGGTTCTTCTGGG	0.383																																						ENST00000589042.1																			0				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						c.(33136-33138)Cca>Tca		titin							144	137	139					2																	179546424		1812	4082	5894	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546424G>A	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.32185C>T	2.37:g.179546424G>A	ENSP00000465570:p.Pro10729Ser					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10729S|TTN-AS1_ENST00000589830.1_RNA	p.P11046S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		136	33360	-			10729			Glu-rich.|Pro-rich.		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.33136C>T		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444945	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.80994	-1.44;-0.02	5.53	5.53	0.82687	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.83622	0.5294	N	0.24115	0.695	0.80722	D	1	P;D	0.89917	0.856;1.0	P;D	0.71870	0.505;0.975	D	0.85682	0.1301	9	0.87932	D	0	.	18.0105	0.89221	0.0:0.0:1.0:0.0	.	10729;10465	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9802;660	ENSP00000343764:P9802S;ENSP00000401501:P660S	ENSP00000343764:P9802S	P	-	1	0	TTN	179254669	0.514000	0.26202	0.997000	0.53966	0.978000	0.69477	2.942000	0.49018	2.775000	0.95449	0.585000	0.79938	CCA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	465	0	0	0	1	0	27	465					A	179546424	G	A	179546424	3	1	66	1	0	0	0	0	1	0	0	0	16789	1261	44	2	71301	2	TTN	2	179546424	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	62893	179546424	63652949	63	8006											
COL5A2	1290	broad.mit.edu	37	chr2	189921735	189921735	+	Frame_Shift_Del	DEL	T	T	-													ccagctgtgccttcagcaccTttttctcctatgccaccctg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:189921735delT	ENST00000374866.3	-	35	2629	c.2355delA	c.(2353-2355)aaafs	p.K785fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	785					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTCAGCACCTTTTTCTCCTA	0.403																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2353-2355)aafs		collagen, type V, alpha 2							178	168	172					2																	189921735		2203	4300	6503	SO:0001589	frameshift_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189921735delT	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2355delA	2.37:g.189921735delT	ENSP00000364000:p.Lys785fs						p.K785fs	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		35	2629	-			785					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Del	DEL	ENST00000374866.3	37	c.2355delA	CCDS33350.1																																																																																				0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		9	909						9	909	---	---	---	---	-	189921735	T	-	189921735	7	5	66	1	0	1	0	1	0	0	0	0	3706	1606	56	0	2224	0	COL5A2	2	189921735	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	10375311	189921735	53277638	64	8007											
CYP27A1	1593	broad.mit.edu	37	chr2	219674321	219674321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttacaaggccaagtacGgtccaatgtggatgtcctac	10	10	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:219674321G>A	ENST00000258415.4	+	2	704	c.277G>A	c.(277-279)Ggt>Agt	p.G93S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCCAAGTACGGTCCAATGTG	0.557																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(277-279)Ggt>Agt		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						130	119	122					2																	219674321		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219674321G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.277G>A	2.37:g.219674321G>A	ENSP00000258415:p.Gly93Ser						p.G93S	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	2	704	+		Renal(207;0.0474)	93					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.277G>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957299	0.92726	.	.	ENSG00000135929	ENST00000258415	T	0.78003	-1.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91625	0.5314	10	0.87932	D	0	-18.4401	18.7612	0.91851	0.0:0.0:1.0:0.0	.	93	Q02318	CP27A_HUMAN	S	93	ENSP00000258415:G93S	ENSP00000258415:G93S	G	+	1	0	CYP27A1	219382565	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	9.765000	0.98953	2.677000	0.91161	0.655000	0.94253	GGT		0.557	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			21	433	0	0	0	1	0	21	433					A	219674321	G	A	219674321	3	1	66	1	0	0	0	0	1	0	0	0	4169	1116	39	1	283	1	CYP27A1	2	219674321	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	29752586	219674321	23525052	65	8008											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75	77	76					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		7	672						7	672	---	---	---	---	-	227896886	C	-	227896886	7	5	66	1	0	1	0	1	0	0	0	0	3702	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	8222565	227896886	15302487	66	8009											
UGT1A3	54659	broad.mit.edu	37	chr2	234638369	234638369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattcctagattactaacAaccaattcagaccacatgac	3	11	1	3	rs563184062		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:234638369A>G	ENST00000482026.1	+	1	616	c.597A>G	c.(595-597)acA>acG	p.T199T	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Silent_p.T199T|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	199					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.T199T(8)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GATTACTAACAACCAATTCAG	0.423													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22790	0.0		0.0	False		,,,				2504	0.0					ENST00000482026.1																			8	Substitution - coding silent(8)	p.T199T(8)	kidney(8)	breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(595-597)acA>acG									219	210	213					2																	234638369		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234638369A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.597A>G	2.37:g.234638369A>G						UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	p.T199T	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	616	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Silent	SNP	ENST00000482026.1	37	c.597A>G	CCDS2509.1																																																																																				0.423	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		7	1012	0	0	0	1	0	7	1012					G	234638369	A	G	234638369	2	3	66	1	0	0	0	0	0	0	0	1	17000	117	5	4		4	UGT1A3	2	234638369	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	6741483	234638369	8561004	67	8010											
RARB	5915	broad.mit.edu	37	chr3	25637964	25637964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctggatcaatgccacctCtcattcaagaaatgctggag	8	11	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25637964C>T	ENST00000404969.1	+	8	1225	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.L402F			P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(1204-1206)Ctc>Ttc		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						132	130	131					3																	25637964		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25637964C>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1225C>T	3.37:g.25637964C>T	ENSP00000385865:p.Leu409Phe					RARB_ENST00000404969.1_Missense_Mutation_p.L409F|RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR	p.L402F	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			8	1625	+			409			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.1204C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.997746	0.74818	.	.	ENSG00000077092	ENST00000404969;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.9	5.9	0.94986	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76610	-0.2896	9	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	409;402	P10826;F1D8S6	RARB_HUMAN;.	F	409;290;402;290	ENSP00000385865:L409F;ENSP00000398840:L290F;ENSP00000332296:L402F;ENSP00000391391:L290F	.	L	+	1	0	RARB	25612968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.804000	0.96469	0.655000	0.94253	CTC		0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		284	370	0	0	0	1	0	284	370					T	25637964	C	T	25637964	3	4	66	1	0	0	0	0	1	0	0	0	13103	913	32	2	1234	2	RARB	3	25637964	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		25637964	172384466	68	8011											
TOP2B	7155	broad.mit.edu	37	chr3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatatctaaacaagatgCgatgcctttccatatcagca	6	11	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25668727C>T	ENST00000264331.4	-	16	1966	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	TOP2B_ENST00000435706.2_Missense_Mutation_p.R651H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAACAAGATGCGATGCCTTTC	0.353																																						ENST00000435706.2																			2	Substitution - Missense(2)	p.R651H(2)	large_intestine(2)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1951-1953)cGc>cAc		topoisomerase (DNA) II beta 180kDa							169	169	169					3																	25668727		1896	4110	6006	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668727C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1967G>A	3.37:g.25668727C>T	ENSP00000264331:p.Arg656His					TOP2B_ENST00000264331.4_Missense_Mutation_p.R656H	p.R651H			Q02880	TOP2B_HUMAN			16	2153	-			656					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1952G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.420360	0.96111	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.54479	0.57;0.57	5.47	5.47	0.80525	.	0.047426	0.85682	D	0.000000	T	0.79667	0.4485	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83665	0.0163	10	0.72032	D	0.01	-11.4448	19.6613	0.95875	0.0:1.0:0.0:0.0	.	651	Q02880-2	.	H	651;656;651	ENSP00000396704:R651H;ENSP00000264331:R656H	ENSP00000264331:R656H	R	-	2	0	TOP2B	25643731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.711000	0.92665	0.650000	0.86243	CGC		0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				322	416	0	0	0	1	0	322	416					T	25668727	C	T	25668727	3	4	66	1	0	0	0	0	1	0	0	0	16419	768	27	1	2997	1	TOP2B	3	25668727	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	30763	25668727	172353703	69	8012											
SCN5A	6331	broad.mit.edu	37	chr3	38592917	38592917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagggacatcatgaggGcaaagagcagcgtgcggatc	16	9	1	2	rs199473289		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:38592917G>A	ENST00000333535.4	-	28	5095	c.4946C>T	c.(4945-4947)gCc>gTc	p.A1649V	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1649V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1616V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1649			A -> V (in BRGDA1). {ECO:0000269|PubMed:17081365}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCATGAGGGCAAAGAGCAG	0.582																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM067713	SCN5A	M		c.(4945-4947)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						144	141	142					3																	38592917		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592917G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4946C>T	3.37:g.38592917G>A	ENSP00000328968:p.Ala1649Val					SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1616V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1649V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V	p.A1649V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5139	-	Medulloblastoma(35;0.163)		1649		A -> V (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4946C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596086	0.86953	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;1.0;0.999;0.947	D;D;D;D;D;P	0.87578	0.981;0.996;0.994;0.998;0.99;0.715	D	0.99035	1.0822	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.0:1.0:0.0	.	1595;1616;1631;1649;1648;1649	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1631;1648;1649;1595;1648;1631;1649;1616;1595;1595	ENSP00000398962:A1631V;ENSP00000398266:A1648V;ENSP00000410257:A1649V;ENSP00000388797:A1595V;ENSP00000397915:A1648V;ENSP00000416634:A1631V;ENSP00000328968:A1649V;ENSP00000399524:A1616V;ENSP00000403355:A1595V;ENSP00000413996:A1595V	ENSP00000328968:A1649V	A	-	2	0	SCN5A	38567921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.641000	0.98458	2.353000	0.79882	0.561000	0.74099	GCC		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		6	642	0	0	0	1	0	6	642					A	38592917	G	A	38592917	3	1	66	1	0	0	0	0	1	0	0	0	13972	1203	42	2	1108	2	SCN5A	3	38592917	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	12924190	38592917	159429513	70	8013											
CTNNB1	1499	broad.mit.edu	37	chr3	41277224	41277224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttggcaggagggggtcCgcatggaagaaatagttgaa	15	5	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:41277224C>T	ENST00000349496.5	+	11	1973	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	565					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAGGGGGTCCGCATGGAAGA	0.403		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1693-1695)Cgc>Tgc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						103	106	105					3																	41277224		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41277224C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1693C>T	3.37:g.41277224C>T	ENSP00000344456:p.Arg565Cys					CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C	p.R565C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	11	1973	+			565					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1693C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188262	0.94923	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.61328	0.817;0.887	D	0.87162	0.2215	10	0.87932	D	0	-16.2508	19.661	0.95871	0.0:1.0:0.0:0.0	.	493;565	B4DSW9;P35222	.;CTNB1_HUMAN	C	565;565;565;558;565	ENSP00000385604:R565C;ENSP00000379486:R565C;ENSP00000344456:R565C;ENSP00000411226:R558C;ENSP00000379488:R565C	ENSP00000344456:R565C	R	+	1	0	CTNNB1	41252228	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.771000	0.85420	2.659000	0.90383	0.655000	0.94253	CGC		0.403	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		8	632	0	0	0	1	0	8	632					T	41277224	C	T	41277224	3	4	66	1	0	0	0	0	1	0	0	0	4027	652	23	1	1731	1	CTNNB1	3	41277224	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2684307	41277224	156745206	71	8014											
KIF9	64147	broad.mit.edu	37	chr3	47308515	47308515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatccaccaagttaattTtggaagtgatgtacttttcc	7	9	0	2	rs199777466		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:47308515T>G	ENST00000265529.3	-	8	1399	c.719A>C	c.(718-720)aAa>aCa	p.K240T	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000335044.2_Missense_Mutation_p.K240T|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	240	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGTTAATTTTGGAAGTGAT	0.483																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(718-720)aAa>aCa		kinesin family member 9							104	103	103					3																	47308515		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47308515T>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.719A>C	3.37:g.47308515T>G	ENSP00000265529:p.Lys240Thr					KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000265529.3_Missense_Mutation_p.K240T	p.K240T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	1076	-		Acute lymphoblastic leukemia(5;0.164)	240			Kinesin-motor.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.719A>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	32	5.115449	0.94339	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.93	5.93	0.95920	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	M	0.74647	2.275	0.48571	D	0.999679	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88949	0.3385	10	0.87932	D	0	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	240;240	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	240;240;240;240;147	ENSP00000333942:K240T;ENSP00000265529:K240T;ENSP00000414987:K240T;ENSP00000391100:K240T;ENSP00000292334:K147T	ENSP00000265529:K240T	K	-	2	0	KIF9	47283519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.547000	0.67249	2.265000	0.75225	0.533000	0.62120	AAA		0.483	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			73	430	0	0	0	1	0	73	430					G	47308515	T	G	47308515	3	3	66	1	0	0	0	0	1	0	0	0	8340	1841	64	4	1713	4	KIF9	3	47308515	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	6031291	47308515	150713915	72	8015											
WNT5A	7474	broad.mit.edu	37	chr3	55508500	55508500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccatagtcgatgttgtcGccgcagccgccccagagcca	11	15	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:55508500G>A	ENST00000474267.1	-	5	1070	c.549C>T	c.(547-549)ggC>ggT	p.G183G	WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	183					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGATGTTGTCGCCGCAGCCGC	0.716																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(547-549)ggC>ggT		wingless-type MMTV integration site family, member 5A							7	11	10					3																	55508500		1904	4083	5987	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508500G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.549C>T	3.37:g.55508500G>A						WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G	p.G183G			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1070	-			183					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.549C>T	CCDS46850.1																																																																																				0.716	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		39	51	0	0	0	1	0	39	51					A	55508500	G	A	55508500	2	1	66	1	0	0	0	0	0	0	0	1	17445	1074	38	1		1	WNT5A	3	55508500	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8199985	55508500	142513930	73	8016											
ADAMTS9	56999	broad.mit.edu	37	chr3	64667008	64667008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagtggttcaataaaaTaatccccatcatgagaccgg	8	9	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:64667008T>C	ENST00000498707.1	-	3	890	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	183					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCAATAAAATAATCCCCATC	0.448																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(547-549)tAt>tGt		ADAM metallopeptidase with thrombospondin type 1 motif, 9							146	138	141					3																	64667008		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64667008T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.548A>G	3.37:g.64667008T>C	ENSP00000418735:p.Tyr183Cys					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C	p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	3	890	-		Lung NSC(201;0.00682)	183					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.548A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670389	0.67814	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.16457	2.34;2.34;2.34	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.94462	3.54	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.976;0.997	T	0.68659	-0.5350	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	183;183;183;183	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	183	ENSP00000295903:Y183C;ENSP00000418735:Y183C;ENSP00000419217:Y183C	ENSP00000295903:Y183C	Y	-	2	0	ADAMTS9	64642048	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.282000	0.58971	2.317000	0.78254	0.459000	0.35465	TAT		0.448	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			21	257	0	0	0	1	0	21	257					C	64667008	T	C	64667008	3	2	66	1	0	0	0	0	1	0	0	0	273	1406	49	4	5407	4	ADAMTS9	3	64667008	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	9158508	64667008	133355422	74	8017											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	1630						7	1630	---	---	---	---	-	66436627	GCT	-	66436625	7	5	66	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-HV-A7OP-01A-11D-A33T-08	1769617	66436625	131585805	75	8018											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-													ccagagagtccttgatgcccTttttccgtaagtttgagatg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219	201	207					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	1042						7	1042	---	---	---	---	-	113505224	T	-	113505224	7	5	66	1	0	1	0	1	0	0	0	0	1178	1609	56	0	728	0	ATP6V1A	3	113505224	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	47068599	113505224	84517206	76	8019											
ZXDC	79364	broad.mit.edu	37	chr3	126194437	126194437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggcctcctgtgatccgGcagcctcggcggcagcgccg	15	17	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:126194437G>A	ENST00000389709.3	-	1	325	c.272C>T	c.(271-273)gCc>gTc	p.A91V	ZXDC_ENST00000336332.5_Missense_Mutation_p.A91V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	91					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGTGATCCGGCAGCCTCGGC	0.776																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(271-273)gCc>gTc		ZXD family zinc finger C							8	10	9					3																	126194437		1111	2637	3748	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126194437G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.272C>T	3.37:g.126194437G>A	ENSP00000374359:p.Ala91Val					ZXDC_ENST00000336332.5_Missense_Mutation_p.A91V	p.A91V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	325	-			91					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.272C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	6.539	0.467617	0.12402	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.29655	1.56;1.56	2.8	0.75	0.18387	.	6.749460	0.03419	U	0.206071	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.17098	0.017;0.011	T	0.16100	-1.0414	10	0.30854	T	0.27	-0.4056	1.4972	0.02469	0.1375:0.2022:0.4341:0.2261	.	91;91	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	V	91	ENSP00000374359:A91V;ENSP00000337694:A91V	ENSP00000337694:A91V	A	-	2	0	ZXDC	127677127	0.021000	0.18746	0.001000	0.08648	0.027000	0.11550	1.823000	0.39062	0.006000	0.14734	0.436000	0.28706	GCC		0.776	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		4	120	0	0	0	1	0	4	120					A	126194437	G	A	126194437	3	1	66	1	0	0	0	0	1	0	0	0	18305	1203	42	2	2350	2	ZXDC	3	126194437	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	12689213	126194437	71827993	77	8020											
COL6A6	131873	broad.mit.edu	37	chr3	130293015	130293015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggtgaaaaagagatatcaTttcagattgaaaacatcaag	8	4	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:130293015T>A	ENST00000358511.6	+	7	3224	c.3193T>A	c.(3193-3195)Ttt>Att	p.F1065I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1065	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)				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						AGAGATATCATTTCAGATTGA	0.478																																						ENST00000358511.6																			0				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						c.(3193-3195)Ttt>Att		collagen, type VI, alpha 6							74	72	72					3																	130293015		1916	4138	6054	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130293015T>A	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.3193T>A	3.37:g.130293015T>A	ENSP00000351310:p.Phe1065Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			7	3224	+			1065			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3193T>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.922	-0.715405	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77750	-1.12;-1.12	5.15	-10.3	0.00346	von Willebrand factor, type A (3);	1.854400	0.02610	N	0.102058	T	0.62183	0.2407	L	0.32530	0.975	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.52909	-0.8512	10	0.39692	T	0.17	.	5.7758	0.18279	0.2968:0.4686:0.0603:0.1743	.	1065	A6NMZ7	CO6A6_HUMAN	I	1065	ENSP00000351310:F1065I;ENSP00000399236:F1065I	ENSP00000351310:F1065I	F	+	1	0	COL6A6	131775705	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.371000	0.00494	-4.171000	0.00068	-3.121000	0.00061	TTT		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		155	191	0	0	0	1	0	155	191					A	130293015	T	A	130293015	3	1	66	1	0	0	0	0	1	0	0	0	3712	1493	52	5	3219	5	COL6A6	3	130293015	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	4098578	130293015	67729415	78	8021											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	421						9	421	---	---	---	---	-	149260196	CTG	-	149260194	7	5	66	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-HV-A7OP-01A-11D-A33T-08	18967179	149260194	48762236	79	8022											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	1036						7	1036	---	---	---	---	-	150877786	C	-	150877786	7	5	66	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	1617592	150877786	47144644	80	8023											
C3orf55	152078	broad.mit.edu	37	chr3	157289824	157289825	+	Frame_Shift_Ins	INS	-	-	A													acaggttaaagaatcagaagINSaaaaaaatgtaagattgata							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:157289824_157289825insA	ENST00000449199.2	+	4	435_436	c.294_295insA	c.(295-297)aaafs	p.K99fs	C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.K99fs|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		99										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGAATCAGAAGAAAAAAATGTA	0.302																																						ENST00000449199.2																			0				breast(1)|lung(1)	2						c.(292-297)aaaaaafs		chromosome 3 open reading frame 55																																				SO:0001589	frameshift_variant	152078							g.chr3:157289824_157289825insA																												ENST00000449199.2:c.301dupA	3.37:g.157289831_157289831dupA	ENSP00000413228:p.Lys99fs					C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.KK98fs	p.KK98fs	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)		4	435_436	+			98					C9JP04|C9JXB5|Q8N6Q6	Frame_Shift_Ins	INS	ENST00000449199.2	37	c.294_295insA	CCDS46943.1																																																																																				0.302	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352018.1			11	16						11	16	---	---	---	---	A	157289825	-	A	157289824	7	5	66	1	0	1	1	0	0	0	0	0	2241	933	33	0	304	0	C3orf55	3	157289824	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	6412038	157289824	40732606	81	8024											
PIK3CA	5290	broad.mit.edu	37	chr3	178951994	178951994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccagaactacaatcttttGatgacattgcatacattcga	6	9	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:178951994G>A	ENST00000263967.3	+	21	3206	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.D1017H(4)		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)	ACAATCTTTTGATGACATTGC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Substitution - Missense(4)	p.D1017H(4)	central_nervous_system(2)|urinary_tract(1)|endometrium(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						c.(3049-3051)Gat>Aat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							106	94	98					3																	178951994		1879	4117	5996	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.chr3:178951994G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3049G>A	3.37:g.178951994G>A	ENSP00000263967:p.Asp1017Asn	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.D1017N	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3206	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1017			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3049G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656347	0.88056	.	.	ENSG00000121879	ENST00000263967	T	0.80909	-1.43	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38733	1.17	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.82768	-0.0294	10	0.41790	T	0.15	-22.9512	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1017	P42336	PK3CA_HUMAN	N	1017	ENSP00000263967:D1017N	ENSP00000263967:D1017N	D	+	1	0	PIK3CA	180434688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.301000	0.96167	2.890000	0.99128	0.585000	0.79938	GAT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			174	243	0	0	0	1	0	174	243					A	178951994	G	A	178951994	3	1	66	1	0	0	0	0	1	0	0	0	11955	1290	45	2	3127	2	PIK3CA	3	178951994	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	21662170	178951994	19070436	82	8025											
FXR1	8087	broad.mit.edu	37	chr3	180688069	180688069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtaggcggtctcgtagacGaaggactgatgaagatgctg	15	7	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:180688069G>A	ENST00000357559.4	+	15	1910	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	509	Poly-Arg.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTCGTAGACGAAGGACTGAT	0.443																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1525-1527)cGa>cAa		fragile X mental retardation, autosomal homolog 1							134	115	122					3																	180688069		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688069G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1526G>A	3.37:g.180688069G>A	ENSP00000350170:p.Arg509Gln					FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q	p.R509Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1910	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		509			Poly-Arg.		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1526G>A	CCDS3238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.769247|5.769247	0.96914|0.96914	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000482125|ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.|T;T;T;T;T;T	.|0.46063	.|1.26;1.13;0.89;0.88;0.88;1.01	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65015|0.65015	0.2651|0.2651	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.997	.|D;D;D;D;D;D	.|0.87578	.|0.994;0.996;0.996;0.99;0.998;0.953	T|T	0.62393|0.62393	-0.6864|-0.6864	5|10	.|0.52906	.|T	.|0.07	-5.2416|-5.2416	20.3011|20.3011	0.98612|0.98612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|496;460;424;453;509;509	.|B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.|.;.;.;.;.;FXR1_HUMAN	K|Q	110|509;424;460;424;509;496	.|ENSP00000350170:R509Q;ENSP00000307633:R424Q;ENSP00000420643:R460Q;ENSP00000420515:R424Q;ENSP00000388828:R509Q;ENSP00000418097:R496Q	.|ENSP00000307633:R424Q	E|R	+|+	1|2	0|0	FXR1|FXR1	182170763|182170763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.804000|2.804000	0.96469|0.96469	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.443	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			26	418	0	0	0	1	0	26	418					A	180688069	G	A	180688069	3	1	66	1	0	0	0	0	1	0	0	0	6142	1058	37	1	1584	1	FXR1	3	180688069	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1736075	180688069	17334361	83	8026											
SPATA18	132671	broad.mit.edu	37	chr4	52938112	52938112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctcaggaggatgCccgccacagaaacacagatc	9	13	3	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:52938112C>T	ENST00000295213.4	+	6	922	c.548C>T	c.(547-549)gCc>gTc	p.A183V	SPATA18_ENST00000419395.2_Missense_Mutation_p.A151V|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	183					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGGAGGATGCCCGCCACAGA	0.547																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(547-549)gCc>gTc		spermatogenesis associated 18							51	51	51					4																	52938112		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52938112C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.548C>T	4.37:g.52938112C>T	ENSP00000295213:p.Ala183Val					SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.A151V	p.A183V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	922	+			183					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.548C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037735	0.54896	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;T	0.88509	-2.39;4.19	5.12	4.27	0.50696	.	0.926222	0.09388	N	0.809019	D	0.89996	0.6877	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49559	0.72;0.72;0.925	B;B;P	0.49752	0.346;0.346;0.621	T	0.79325	-0.1850	10	0.30078	T	0.28	-3.0099	11.5713	0.50834	0.0:0.8206:0.1794:0.0	.	151;183;183	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	V	183;151	ENSP00000295213:A183V;ENSP00000415309:A151V	ENSP00000295213:A183V	A	+	2	0	SPATA18	52632869	0.035000	0.19736	0.026000	0.17262	0.030000	0.12068	1.814000	0.38972	1.360000	0.45960	0.650000	0.86243	GCC		0.547	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	185	0	0	0	1	0	4	185					T	52938112	C	T	52938112	3	4	66	1	0	0	0	0	1	0	0	0	15055	739	26	2	570	2	SPATA18	4	52938112	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		52938112	138216164	84	8027											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	265						7	265	---	---	---	---	-	56304532	CTG	-	56304530	7	5	66	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-HV-A7OP-01A-11D-A33T-08	3366418	56304530	134849746	85	8028											
PTPN13	5783	broad.mit.edu	37	chr4	87653817	87653817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgggcaaagactggaaCtgacctgtgataccaaaact	10	9	0	4	rs558463399		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87653817C>A	ENST00000411767.2	+	12	1819	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M|PTPN13_ENST00000436978.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	586	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGACTGGAACTGACCTGTGA	0.368																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1756-1758)Ctg>Atg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							128	121	123					4																	87653817		1905	4137	6042	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87653817C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1756C>A	4.37:g.87653817C>A	ENSP00000407249:p.Leu586Met					PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L586M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M	p.L586M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	12	2236	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	586			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1756C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993492	0.35131	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.31	2.57	0.30868	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.196433	0.24962	N	0.034217	D	0.83027	0.5165	M	0.66939	2.045	0.52501	D	0.99995	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.80146	-0.1504	10	0.56958	D	0.05	.	5.0233	0.14372	0.1488:0.6263:0.0:0.2249	.	586;586;586;586	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	586;586;586;586;586;554	ENSP00000408368:L586M;ENSP00000394794:L586M;ENSP00000322675:L586M;ENSP00000407249:L586M;ENSP00000426626:L586M	ENSP00000322675:L586M	L	+	1	2	PTPN13	87872841	1.000000	0.71417	0.975000	0.42487	0.014000	0.08584	1.671000	0.37513	0.583000	0.29574	-0.251000	0.11542	CTG		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			29	244	1	0	2.08457e-15	1	2.24023e-15	29	244					A	87653817	C	A	87653817	3	1	66	1	0	0	0	0	1	0	0	0	12830	564	20	3	1798	3	PTPN13	4	87653817	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	31349287	87653817	103500459	86	8029											
AFF1	4299	broad.mit.edu	37	chr4	87968372	87968372	+	Frame_Shift_Del	DEL	C	C	-													attccaaccagcaaactcttCcccggacgcaaggaagcagc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87968372delC	ENST00000307808.6	+	3	1084	c.664delC	c.(664-666)cccfs	p.P222fs	AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	222					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAAACTCTTCCCCGGACGCA	0.512																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(664-666)ccfs		AF4/FMR2 family, member 1							133	133	133					4																	87968372		2203	4300	6503	SO:0001589	frameshift_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968372delC	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.664delC	4.37:g.87968372delC	ENSP00000305689:p.Pro222fs					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs	p.P222fs	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1084	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	222					B4DTU1|E9PBM3	Frame_Shift_Del	DEL	ENST00000307808.6	37	c.664delC	CCDS3616.1																																																																																				0.512	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		454	416						454	416	---	---	---	---	-	87968372	C	-	87968372	7	5	66	1	0	1	0	1	0	0	0	0	356	855	30	0	716	0	AFF1	4	87968372	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	314555	87968372	103185904	87	8030											
MMRN1	22915	broad.mit.edu	37	chr4	90857205	90857205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctattcagactttggtcaatGacaatcagagatataacttt	6	7	3	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:90857205G>A	ENST00000394980.1	+	7	2693	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N|MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	792					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGGTCAATGACAATCAGAG	0.378																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2374-2376)Gac>Aac		multimerin 1							54	54	54					4																	90857205		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857205G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2374G>A	4.37:g.90857205G>A	ENSP00000378431:p.Asp792Asn					MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N	p.D792N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2693	+		Hepatocellular(203;0.114)	792					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2374G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	7.845	0.722719	0.15439	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66280	0.14;0.14;-0.2	4.97	4.12	0.48240	.	0.395362	0.25598	N	0.029561	T	0.51024	0.1650	L	0.43152	1.355	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.44498	-0.9324	10	0.19147	T	0.46	.	12.8581	0.57897	0.0787:0.0:0.9213:0.0	.	792	Q13201	MMRN1_HUMAN	N	792;792;534	ENSP00000378431:D792N;ENSP00000264790:D792N;ENSP00000426461:D534N	ENSP00000264790:D792N	D	+	1	0	MMRN1	91076228	0.832000	0.29368	0.981000	0.43875	0.275000	0.26752	1.431000	0.34925	1.375000	0.46248	0.650000	0.86243	GAC		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		10	306	0	0	0	1	0	10	306					A	90857205	G	A	90857205	3	1	66	1	0	0	0	0	1	0	0	0	9711	1290	45	2	2396	2	MMRN1	4	90857205	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2888833	90857205	100297071	88	8031											
NHEDC1	150159	broad.mit.edu	37	chr4	103826768	103826768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagatatgtggttaaaattCgaacacataatgccaaactt	6	6	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:103826768C>T	ENST00000296422.7	-	11	1376	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGTTAAAATTCGAACACATAA	0.338																																						ENST00000296422.7																			0											c.(1234-1236)cGa>cAa		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							44	48	47					4																	103826768		2200	4294	6494	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103826768C>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1235G>A	4.37:g.103826768C>T	ENSP00000296422:p.Arg412Gln					SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q|SLC9B1_ENST00000512651.2_Intron	p.R412Q	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			11	1376	-			412					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.1235G>A	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654826	0.67472	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	T;T	0.24538	1.85;1.85	3.47	3.47	0.39725	.	0.000000	0.64402	D	0.000002	T	0.54711	0.1875	M	0.86740	2.835	0.43824	D	0.996397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.969;0.988;0.995	T	0.65865	-0.6064	10	0.87932	D	0	-27.7024	14.2383	0.65941	0.0:1.0:0.0:0.0	.	180;412;412	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	Q	412	ENSP00000378269:R412Q;ENSP00000296422:R412Q	ENSP00000296422:R412Q	R	-	2	0	SLC9B1	104046217	1.000000	0.71417	0.655000	0.29622	0.664000	0.39144	5.152000	0.64882	1.919000	0.55581	0.484000	0.47621	CGA		0.338	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		5	437	0	0	0	1	0	5	437					T	103826768	C	T	103826768	3	4	66	1	0	0	0	0	1	0	0	0	10442	884	31	1	420	1	NHEDC1	4	103826768	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	12969563	103826768	87327508	89	8032											
PCDH10	57575	broad.mit.edu	37	chr4	134073206	134073206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggactggcgcaccggggaGctgcgcacagcacgccgagt	16	13	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:134073206G>A	ENST00000264360.5	+	1	2737	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCACCGGGGAGCTGCGCACAG	0.677																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1909-1911)gaG>gaA		protocadherin 10							30	35	33					4																	134073206		2188	4281	6469	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073206G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1911G>A	4.37:g.134073206G>A							p.E637E	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2737	+			637			Cadherin 6.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1911G>A	CCDS34063.1																																																																																				0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		31	191	0	0	0	1	0	31	191					A	134073206	G	A	134073206	2	1	66	1	0	0	0	0	0	0	0	1	11549	962	34	2		2	PCDH10	4	134073206	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	30246438	134073206	57081070	90	8033											
DCLK2	166614	broad.mit.edu	37	chr4	151023709	151023709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attaatccaaactggtctgtGaacatcaagggtgggacatc	10	8	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:151023709G>A	ENST00000296550.7	+	2	1255	c.501G>A	c.(499-501)gtG>gtA	p.V167V	DCLK2_ENST00000302176.8_Silent_p.V167V|DCLK2_ENST00000506325.1_Silent_p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	167					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGGTCTGTGAACATCAAGG	0.403																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(499-501)gtG>gtA		doublecortin-like kinase 2							60	63	62					4																	151023709		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151023709G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.501G>A	4.37:g.151023709G>A						DCLK2_ENST00000302176.8_Silent_p.V167V|DCLK2_ENST00000506325.1_Silent_p.V167V	p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			2	1255	+	all_hematologic(180;0.151)		167					C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.501G>A	CCDS34076.1																																																																																				0.403	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		26	176	0	0	0	1	0	26	176					A	151023709	G	A	151023709	2	1	66	1	0	0	0	0	0	0	0	1	4303	1277	45	2		2	DCLK2	4	151023709	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	16950503	151023709	40130567	91	8034											
SLC6A18	348932	broad.mit.edu	37	chr5	1232476	1232476	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacctcagtggagtaggTaggccaccgtcctcgcttgc	12	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1232476T>A	ENST00000324642.3	+	2	424		c.e2+2		SLC6A18_ENST00000296821.4_Splice_Site	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGGAGTAGGTAGGCCACCGT	0.682																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.e2+2		solute carrier family 6 (neutral amino acid transporter), member 18							29	29	29					5																	1232476		2201	4299	6500	SO:0001630	splice_region_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232476T>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.301+2T>A	5.37:g.1232476T>A						SLC6A18_ENST00000296821.4_Splice_Site		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	424	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)								Splice_Site	SNP	ENST00000324642.3	37		CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128189	0.37533	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7277	0.62767	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A18	1285476	1.000000	0.71417	0.317000	0.25265	0.066000	0.16364	5.389000	0.66255	2.069000	0.61940	0.402000	0.26972	.		0.682	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	Intron	7	170	0	0	0	1	0	7	170					A	1232476	T	A	1232476	5	1	66	1	0	0	0	0	0	0	1	0	14731	1652	57	5	309	5	SLC6A18	5	1232476	Splice_Site	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08		1232476	179682784	92	8035											
SLC6A18	348932	broad.mit.edu	37	chr5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagattttcgacaattttgCcgcttccccgaacctgctca	8	13	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 18							147	147	147					5																	1244416		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244416C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	p.A475V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1547	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		475						Missense_Mutation	SNP	ENST00000324642.3	37	c.1424C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC		0.582	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		8	1324	0	0	0	1	0	8	1324					T	1244416	C	T	1244416	3	4	66	1	0	0	0	0	1	0	0	0	14731	739	26	2	1462	2	SLC6A18	5	1244416	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	11940	1244416	179670844	93	8036											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	472						7	472	---	---	---	---	-	1879671	CCT	-	1879669	7	5	66	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-HV-A7OP-01A-11D-A33T-08	635253	1879669	179035591	94	8037											
NSUN2	54888	broad.mit.edu	37	chr5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttattcagcagcacattccGcaactccttagaaaccatgt	6	12	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6605421G>A	ENST00000264670.6	-	15	2013	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W|NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1702-1704)Cgg>Tgg		NOP2/Sun RNA methyltransferase family, member 2							198	194	195					5																	6605421		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605421G>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.1702C>T	5.37:g.6605421G>A	ENSP00000264670:p.Arg568Trp					NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W|NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W	p.R568W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			15	2013	-			568					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1702C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186816	0.57909	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	-4.21	0.03812	.	0.047192	0.85682	D	0.000000	T	0.80396	0.4615	M	0.88377	2.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	D	0.84366	0.0541	10	0.87932	D	0	-35.1638	19.9151	0.97057	0.0:0.0:0.3569:0.6431	.	533;568	B4DQW2;Q08J23	.;NSUN2_HUMAN	W	568;332;533	ENSP00000264670:R568W;ENSP00000444338:R332W;ENSP00000420957:R533W	ENSP00000264670:R568W	R	-	1	2	NSUN2	6658421	0.723000	0.28027	0.073000	0.20177	0.463000	0.32649	0.158000	0.16422	-0.617000	0.05664	-0.311000	0.09066	CGG		0.478	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		7	1338	0	0	0	1	0	7	1338					A	6605421	G	A	6605421	3	1	66	1	0	0	0	0	1	0	0	0	10720	1086	38	1	621	1	NSUN2	5	6605421	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4725752	6605421	174309839	95	8038											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	1945						9	1945	---	---	---	---	-	24492973	A	-	24492973	7	5	66	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	17887552	24492973	156422287	96	8039											
PDZD2	23037	broad.mit.edu	37	chr5	32089279	32089279	+	Frame_Shift_Del	DEL	G	G	-													ctgcgaatgctgtgaaggctGgggggacggaccacaggaaa					rs541027562		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32089279delG	ENST00000438447.1	+	20	6113	c.5725delG	c.(5725-5727)gggfs	p.G1910fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.G1910fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1910					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTGAAGGCTGGGGGGACGGA	0.577																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5725-5727)ggfs		PDZ domain containing 2							85	89	88					5																	32089279		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089279delG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5725delG	5.37:g.32089279delG	ENSP00000402033:p.Gly1910fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.G1910fs	p.G1910fs			O15018	PDZD2_HUMAN			20	6113	+			1910					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.5725delG	CCDS34137.1																																																																																				0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	1149						8	1149	---	---	---	---	-	32089279	G	-	32089279	7	5	66	1	0	1	0	1	0	0	0	0	11743	1348	47	0	5799	0	PDZD2	5	32089279	Frame_Shift_Del	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	7596306	32089279	148825981	97	8040											
RXFP3	51289	broad.mit.edu	37	chr5	33936896	33936896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaataaggcagcaggCggggacaagctagcagaact	13	9	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:33936896C>T	ENST00000330120.3	+	1	406	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	17					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGCAGCAGGCGGGGACAAGC	0.582																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(49-51)ggC>ggT		relaxin/insulin-like family peptide receptor 3							72	77	75					5																	33936896		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33936896C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.51C>T	5.37:g.33936896C>T							p.G17G	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	406	+			17					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.51C>T	CCDS3900.1																																																																																				0.582	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		62	865	0	0	0	1	0	62	865					T	33936896	C	T	33936896	2	4	66	1	0	0	0	0	0	0	0	1	13811	755	27	1		1	RXFP3	5	33936896	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1847617	33936896	146978364	98	8041											
SPEF2	79925	broad.mit.edu	37	chr5	35776458	35776458	+	Frame_Shift_Del	DEL	A	A	-													tgatgtatataaactcatggAaaaatggcttggtgagaggt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:35776458delA	ENST00000356031.3	+	29	4332	c.4178delA	c.(4177-4179)gaafs	p.E1393fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.E1388fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'Flank	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1393					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCATGGAAAAATGGCTT	0.348																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4162-4164)gafs		sperm flagellar 2							152	144	147					5																	35776458		1820	4081	5901	SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35776458delA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4178delA	5.37:g.35776458delA	ENSP00000348314:p.Glu1393fs					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.E1393fs	p.E1388fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		29	4163	+	all_lung(31;7.56e-05)		1393					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	c.4163delA	CCDS43309.1																																																																																				0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		7	1295						7	1295	---	---	---	---	-	35776458	A	-	35776458	7	5	66	1	0	1	0	1	0	0	0	0	15087	246	9	0	4313	0	SPEF2	5	35776458	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	1839562	35776458	145138802	99	8042											
CARD6	84674	broad.mit.edu	37	chr5	40852928	40852928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttttggtgcttccccgGcaaatctctgatggcctggt	10	13	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1492-1494)cgG>cgA		caspase recruitment domain family, member 6							69	70	70					5																	40852928		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852928G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1494G>A	5.37:g.40852928G>A						CARD6_ENST00000381677.3_Intron	p.R498R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1693	+			498					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1494G>A	CCDS3935.1																																																																																				0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			6	877	0	0	0	1	0	6	877					A	40852928	G	A	40852928	2	1	66	1	0	0	0	0	0	0	0	1	2657	1190	42	2		2	CARD6	5	40852928	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5076470	40852928	140062332	100	8043											
HEATR7B2	133558	broad.mit.edu	37	chr5	41004527	41004528	+	Frame_Shift_Ins	INS	-	-	T													gtctgtcagcagctccaggaINSttttttttagagccttcaag							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:41004527_41004528insT	ENST00000399564.4	-	37	4564_4565	c.4114_4115insA	c.(4114-4116)atcfs	p.I1372fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.I927fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1372								p.I1372T(1)									CAGCTCCAGGATTTTTTTTAGA	0.436																																						ENST00000399564.4																			1	Substitution - Missense(1)	p.I1372T(1)	central_nervous_system(1)								c.(4114-4116)cctfs		maestro heat-like repeat family member 2B																																				SO:0001589	frameshift_variant	133558							g.chr5:41004527_41004528insT		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.4115dupA	5.37:g.41004535_41004535dupT	ENSP00000382476:p.Ile1372fs					MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.P927fs	p.P1372fs	NM_173489.4	NP_775760.3					37	4564_4565	-								Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	ENST00000399564.4	37	c.4114_4115insA	CCDS47202.1																																																																																				0.436	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	1080						7	1080	---	---	---	---	T	41004528	-	T	41004527	7	5	66	1	0	1	1	0	0	0	0	0	7065	333	12	0	666	0	HEATR7B2	5	41004527	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	151599	41004527	139910733	101	8044											
ARSB	411	broad.mit.edu	37	chr5	78264932	78264932	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtataacctgcttcttttagGagctggggcaggagtttttc	12	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:78264932G>C	ENST00000264914.4	-	2	932	c.396C>G	c.(394-396)ctC>ctG	p.L132L	ARSB_ENST00000565165.1_Silent_p.L132L|ARSB_ENST00000396151.3_Silent_p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	132					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTTCTTTTAGGAGCTGGGGCA	0.478																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(394-396)ctC>ctG		arylsulfatase B							152	161	158					5																	78264932		2203	4300	6503	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78264932G>C	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.396C>G	5.37:g.78264932G>C						ARSB_ENST00000565165.1_Silent_p.L132L|ARSB_ENST00000396151.3_Silent_p.L132L	p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	2	932	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	132					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.396C>G	CCDS4043.1																																																																																				0.478	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		16	578	0	0	0	1	0	16	578					C	78264932	G	C	78264932	2	2	66	1	0	0	0	0	0	0	0	1	989	1161	41	5		5	ARSB	5	78264932	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	37260405	78264932	102650328	102	8045											
APC	324	broad.mit.edu	37	chr5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacagtattacactaagaCgatatgctggaatggctttg	9	7	0	1	rs137854580		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*|CTC-554D6.1_ENST00000520401.1_5'Flank			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		6	Substitution - Nonsense(5)|Unknown(1)	p.R499*(5)|p.?(1)	large_intestine(5)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM930023	APC	M	rs137854580	c.(1495-1497)Cga>Tga		adenomatous polyposis coli							135	123	127					5																	112162891		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112162891C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1495C>T	5.37:g.112162891C>T	ENSP00000413133:p.Arg499*	TSP Lung(16;0.13)				APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*	p.R499*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	12	1875	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	499			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.1495C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025077	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3767	14.9298	0.70906	0.2732:0.7267:0.0:0.0	.	.	.	.	X	499;481;499;499;499	.	ENSP00000257430:R499X	R	+	1	2	APC	112190790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	1.461000	0.47929	0.655000	0.94253	CGA		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		163	33	0	0	0	1	0	163	33					T	112162891	C	T	112162891	4	4	66	1	0	0	0	0	0	1	0	0	763	528	19	1	1537	1	APC	5	112162891	Nonsense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	33897959	112162891	68752369	103	8046											
TCF7	6932	broad.mit.edu	37	chr5	133478560	133478560	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagcgctgccatcaaccagAtcctgggccgcagggtgaga	14	12	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:133478560A>T	ENST00000321584.4	+	7	1100	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000395029.1_Missense_Mutation_p.I302F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F|TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	302					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAACCAGATCCTGGGCCG	0.587																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(904-906)Atc>Ttc		transcription factor 7 (T-cell specific, HMG-box)							119	106	110					5																	133478560		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133478560A>T	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.904A>T	5.37:g.133478560A>T	ENSP00000326540:p.Ile302Phe					TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000321584.4_Missense_Mutation_p.I302F|TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F	p.I302F			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1099	+		Breast(839;0.058)	302					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.904A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.8|23.8|23.8	4.461467|4.461467|4.461467	0.84317|0.84317|0.84317	.|.|.	.|.|.	ENSG00000081059|ENSG00000081059|ENSG00000081059	ENST00000517855|ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000517799|ENST00000520699	.|D;D;D;D;D;D;D;D;D;D;D|.	.|0.98178|.	.|-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.83344|0.83344|0.83344	0.5234|0.5234|0.5234	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|0.999;0.997;1.0;0.987;1.0;0.999|.	.|D;D;D;D;D;D|.	.|0.91635|.	.|0.993;0.991;0.999;0.979;0.998;0.994|.	D|D|D	0.86089|0.86089|0.86089	0.1549|0.1549|0.1549	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	16.1728|16.1728|16.1728	0.81831|0.81831|0.81831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|116;302;302;100;302;302|.	.|B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.|.;.;.;.;TCF7_HUMAN;.|.	V|F|S	90|302;302;302;302;302;302;187;187;187;187;187;80|26	.|ENSP00000340347:I302F;ENSP00000326654:I302F;ENSP00000326540:I302F;ENSP00000367827:I302F;ENSP00000378472:I302F;ENSP00000367822:I187F;ENSP00000397946:I187F;ENSP00000429547:I187F;ENSP00000430179:I187F;ENSP00000378469:I187F;ENSP00000427968:I80F|.	.|ENSP00000326540:I302F|.	D|I|R	+|+|+	2|1|3	0|0|2	TCF7|TCF7|TCF7	133506459|133506459|133506459	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.832000|0.832000|0.832000	0.47134|0.47134|0.47134	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.228000|2.228000|2.228000	0.72767|0.72767|0.72767	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|AGA		0.587	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		23	208	0	0	0	1	0	23	208					T	133478560	A	T	133478560	3	4	66	1	0	0	0	0	1	0	0	0	15748	333	12	5	930	5	TCF7	5	133478560	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	21315669	133478560	47436700	104	8047											
PCDHA12	56137	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	12	14	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1360-1362)gcG>gcA									107	108	108					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140256419G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A						PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.A454A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1362G>A	CCDS47285.1																																																																																				0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		374	89	0	0	0	1	0	374	89					A	140256419	G	A	140256419	2	1	66	1	0	0	0	0	0	0	0	1	11564	1132	40	1		1	PCDHA12	5	140256419	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	6777859	140256419	40658841	105	8048											
PCDHB14	56122	broad.mit.edu	37	chr5	140603142	140603142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatattccttgttttgctggGattgtctcgggcaggtactg	12	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140603142G>T	ENST00000239449.4	+	1	65	c.65G>T	c.(64-66)gGa>gTa	p.G22V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	22					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTTGCTGGGATTGTCTCGG	0.478																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(64-66)gGa>gTa									101	99	100					5																	140603142		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603142G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.65G>T	5.37:g.140603142G>T	ENSP00000239449:p.Gly22Val					PCDHB14_ENST00000515856.2_Intron	p.G22V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	65	+			22					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.65G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	8.281	0.815658	0.16607	.	.	ENSG00000120327	ENST00000239449	T	0.49432	0.78	4.93	3.12	0.35913	.	.	.	.	.	T	0.37128	0.0992	L	0.49256	1.55	0.09310	N	0.999999	B	0.19817	0.039	B	0.20955	0.032	T	0.24657	-1.0154	9	0.16420	T	0.52	.	6.4783	0.22049	0.1727:0.153:0.6742:0.0	.	22	Q9Y5E9	PCDBE_HUMAN	V	22	ENSP00000239449:G22V	ENSP00000239449:G22V	G	+	2	0	PCDHB14	140583326	0.548000	0.26473	0.999000	0.59377	0.750000	0.42670	0.400000	0.20932	1.209000	0.43321	-0.136000	0.14681	GGA		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		122	25	1	0	3.90656e-58	1	4.29592e-58	122	25					T	140603142	G	T	140603142	3	4	66	1	0	0	0	0	1	0	0	0	11581	1174	41	3	67	3	PCDHB14	5	140603142	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	346723	140603142	40312118	106	8049											
SLC22A23	63027	broad.mit.edu	37	chr6	3284091	3284091	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcccatgacgcaccttatCaccgtcggggtgatctccgc	9	16	3	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:3284091C>G	ENST00000406686.3	-	9	1697	c.1698G>C	c.(1696-1698)gtG>gtC	p.V566V	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000436008.2_Silent_p.V574V|SLC22A23_ENST00000380302.4_Silent_p.V285V	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	566					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGCACCTTATCACCGTCGGGG	0.587																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1720-1722)gtG>gtC		solute carrier family 22, member 23							70	64	66					6																	3284091		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3284091C>G	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1698G>C	6.37:g.3284091C>G						SLC22A23_ENST00000380302.4_Silent_p.V285V|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000406686.3_Silent_p.V566V|PSMG4_ENST00000451246.2_Intron	p.V574V			A1A5C7	S22AN_HUMAN			10	2184	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	566					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1722G>C	CCDS47363.1																																																																																				0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		16	215	0	0	0	1	0	16	215					G	3284091	C	G	3284091	2	3	66	1	0	0	0	0	0	0	0	1	14502	813	29	5		5	SLC22A23	6	3284091	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		3284091	167830976	107	8050											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	445						10	445	---	---	---	---	-	7393452	GAC	-	7393450	7	5	66	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HV-A7OP-01A-11D-A33T-08	4109359	7393450	163721617	108	8051											
GMPR	2766	broad.mit.edu	37	chr6	16254859	16254859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagcatcctggaagctGtgccacaggttaagtttatt	10	9	0	1	rs370707259		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:16254859G>T	ENST00000259727.4	+	4	472	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	120					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTGGAAGCTGTGCCACAGGT	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(358-360)Gtg>Ttg		guanosine monophosphate reductase							213	202	206					6																	16254859		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254859G>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.358G>T	6.37:g.16254859G>T	ENSP00000259727:p.Val120Leu						p.V120L	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	472	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	120					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.358G>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	4.583	0.108402	0.08780	.	.	ENSG00000137198	ENST00000259727	T	0.17054	2.3	5.65	2.83	0.33086	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.181713	0.49305	N	0.000141	T	0.03564	0.0102	L	0.42245	1.32	0.46298	D	0.998973	B	0.11235	0.004	B	0.13407	0.009	T	0.32241	-0.9914	10	0.08599	T	0.76	-2.5539	4.6069	0.12382	0.2538:0.3194:0.4268:0.0	.	120	P36959	GMPR1_HUMAN	L	120	ENSP00000259727:V120L	ENSP00000259727:V120L	V	+	1	0	GMPR	16362838	0.999000	0.42202	0.342000	0.25602	0.606000	0.37113	3.281000	0.51685	0.293000	0.22520	-0.175000	0.13238	GTG		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			318	410	1	0	2.17704e-151	1	2.41003e-151	318	410					T	16254859	G	T	16254859	3	4	66	1	0	0	0	0	1	0	0	0	6525	1377	48	3	372	3	GMPR	6	16254859	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8861409	16254859	154860208	109	8052											
RBM24	221662	broad.mit.edu	37	chr6	17292126	17292128	+	In_Frame_Del	DEL	GCT	GCT	-													catacgcacaatactcagcaGctgctgctgctgccgccgcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:17292126_17292128delGCT	ENST00000379052.5	+	4	723_725	c.487_489delGCT	c.(487-489)gctdel	p.A172del	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	172	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(487-489)del		RNA binding motif protein 24																																				SO:0001651	inframe_deletion	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292126_17292128delGCT	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.487_489delGCT	6.37:g.17292135_17292137delGCT	ENSP00000368341:p.Ala172del					RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	p.A172del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	723_725	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	172			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	In_Frame_Del	DEL	ENST00000379052.5	37	c.487_489delGCT	CCDS47378.1																																																																																				0.606	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		10	494						10	494	---	---	---	---	-	17292128	GCT	-	17292126	7	5	66	1	0	1	0	1	0	0	0	0	13174	971	34	0	534	0	RBM24	6	17292126	In_Frame_Del	DEL	GCT	TCGA-HV-A7OP-01A-11D-A33T-08	1037267	17292126	153822941	110	8053											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgaagaagaaggcccGcaagtctgcaggtgcggcca	14	12	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647																																						ENST00000304218.3																			1	Substitution - Missense(1)	p.R25P(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(73-75)cGc>cAc		histone cluster 1, H1e							32	41	38					6																	26156692		2185	4281	6466	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156692G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.74G>A	6.37:g.26156692G>A	ENSP00000307705:p.Arg25His						p.R25H	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	134	+			25					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.74G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.618776	0.28801	.	.	ENSG00000168298	ENST00000304218	T	0.09163	3.01	5.49	4.39	0.52855	.	0.297668	0.33980	N	0.004377	T	0.01870	0.0059	N	0.08118	0	0.32768	N	0.504197	B	0.09022	0.002	B	0.01281	0.0	T	0.36407	-0.9749	10	0.66056	D	0.02	-2.4329	4.5977	0.12338	0.2792:0.0:0.7208:0.0	.	25	P10412	H14_HUMAN	H	25	ENSP00000307705:R25H	ENSP00000307705:R25H	R	+	2	0	HIST1H1E	26264671	0.008000	0.16893	1.000000	0.80357	0.089000	0.18198	1.543000	0.36147	2.727000	0.93392	0.655000	0.94253	CGC		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	540	0	0	0	1	0	7	540					A	26156692	G	A	26156692	3	1	66	1	0	0	0	0	1	0	0	0	7156	1087	38	1	76	1	HIST1H1E	6	26156692	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8864566	26156692	144958375	111	8054											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	519						7	519	---	---	---	---	-	29573438	CAG	-	29573436	7	5	66	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-HV-A7OP-01A-11D-A33T-08	3416744	29573436	141541631	112	8055											
RDBP	7936	broad.mit.edu	37	chr6	31922199	31922199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcctaggggctcgccGttcagggaatgaatccgacc	11	14	1	1	rs542263058		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31922199G>A	ENST00000375429.3	-	8	989	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NELFE_ENST00000375425.5_Missense_Mutation_p.R262W|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.R225W	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	255					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGGGCTCGCCGTTCAGGGAAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20535	0.0		0.0	False		,,,				2504	0.0					ENST00000375429.3																			0											c.(763-765)Cgg>Tgg		negative elongation factor complex member E							93	86	88					6																	31922199		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31922199G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.763C>T	6.37:g.31922199G>A	ENSP00000364578:p.Arg255Trp					NELFE_ENST00000444811.2_Missense_Mutation_p.R225W|NELFE_ENST00000375425.5_Missense_Mutation_p.R262W	p.R255W	NM_002904.5	NP_002895.3					8	989	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.763C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811057	0.70797	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.42	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);	0.112301	0.64402	D	0.000012	T	0.38161	0.1030	L	0.38175	1.15	0.45194	D	0.998201	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56474	0.799;0.799;0.799	T	0.27806	-1.0063	10	0.66056	D	0.02	-11.4519	13.973	0.64252	0.0885:0.0:0.9115:0.0	.	225;250;255	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	W	255;262;225;250;255;250	ENSP00000364578:R255W;ENSP00000364574:R262W;ENSP00000388400:R225W;ENSP00000397914:R250W;ENSP00000409389:R255W	ENSP00000364574:R262W	R	-	1	2	RDBP	32030178	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.032000	0.57274	2.549000	0.85964	0.655000	0.94253	CGG		0.468	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			5	521	0	0	0	1	0	5	521					A	31922199	G	A	31922199	3	1	66	1	0	0	0	0	1	0	0	0	13238	1144	40	1	395	1	RDBP	6	31922199	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2348763	31922199	139192868	113	8056											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	936						8	936	---	---	---	---	T	31975224	-	T	31975223	6	5	66	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	53024	31975223	139139844	114	8057											
ZNF318	24149	broad.mit.edu	37	chr6	43316256	43316256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcttctgcctcttgccGtagctctgcaatgtccttca	7	15	5	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:43316256G>A	ENST00000361428.2	-	6	2955	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	960					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCTCTTGCCGTAGCTCTGCA	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2878-2880)Cgg>Tgg		zinc finger protein 318							229	199	209					6																	43316256		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316256G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2878C>T	6.37:g.43316256G>A	ENSP00000354964:p.Arg960Trp					ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	2955	-			960					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2878C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181629	0.78677	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.38240	1.15;2.48	6.03	5.15	0.70609	.	0.216185	0.39759	N	0.001275	T	0.30448	0.0765	L	0.27053	0.805	0.31399	N	0.676859	D	0.89917	1.0	D	0.67231	0.95	T	0.29882	-0.9997	10	0.87932	D	0	-1.1854	10.7823	0.46384	0.0:0.1273:0.6091:0.2636	.	960	Q5VUA4	ZN318_HUMAN	W	960	ENSP00000323032:R960W;ENSP00000354964:R960W	ENSP00000323032:R960W	R	-	1	2	ZNF318	43424234	0.999000	0.42202	0.962000	0.40283	0.988000	0.76386	4.402000	0.59722	1.533000	0.49186	0.655000	0.94253	CGG		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	860	0	0	0	1	0	7	860					A	43316256	G	A	43316256	3	1	66	1	0	0	0	0	1	0	0	0	17889	1144	40	1	3981	1	ZNF318	6	43316256	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	11341033	43316256	127798811	115	8058											
TFAP2B	7021	broad.mit.edu	37	chr6	50807925	50807925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcgaaacggagtttcccGccaaagccgtctctgagtat	10	11	1	1	rs140210899	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:50807925G>A	ENST00000393655.3	+	6	1166	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A342T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	333					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGAGTTTCCCGCCAAAGCCGT	0.488																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1024-1026)Gcc>Acc		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							119	128	125					6																	50807925		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807925G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.997G>A	6.37:g.50807925G>A	ENSP00000377265:p.Ala333Thr					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A333T	p.A342T			Q92481	AP2B_HUMAN			7	1190	+	Lung NSC(77;0.156)		333					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1024G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744045	0.69418	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96992	-4.2;-4.2	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.051753	0.85682	D	0.000000	D	0.94915	0.8356	M	0.77820	2.39	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	D	0.91532	0.5243	10	0.59425	D	0.04	-16.997	19.7769	0.96398	0.0:0.0:1.0:0.0	.	333	Q92481	AP2B_HUMAN	T	333;342	ENSP00000377265:A333T;ENSP00000263046:A342T	ENSP00000263046:A342T	A	+	1	0	TFAP2B	50915884	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.497000	0.66924	2.692000	0.91855	0.655000	0.94253	GCC		0.488	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	784	0	0	0	1	0	7	784					A	50807925	G	A	50807925	3	1	66	1	0	0	0	0	1	0	0	0	15840	1087	38	1	1019	1	TFAP2B	6	50807925	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	7491669	50807925	120307142	116	8059											
PKHD1	5314	broad.mit.edu	37	chr6	51618013	51618013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttacctgaaaattcttctCggctggacttcctgaaggac	8	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:51618013C>T	ENST00000371117.3	-	57	9211	c.8936G>A	c.(8935-8937)cGa>cAa	p.R2979Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2979					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATTCTTCTCGGCTGGACTT	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8935-8937)cGa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							86	88	87					6																	51618013		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618013C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8936G>A	6.37:g.51618013C>T	ENSP00000360158:p.Arg2979Gln					PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			57	9211	-	Lung NSC(77;0.0605)		2979					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8936G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	2.637	-0.284992	0.05605	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.81739	-1.53;-1.53	5.97	3.22	0.36961	.	0.741936	0.12773	N	0.440333	T	0.35278	0.0926	N	0.14661	0.345	0.09310	N	1	P;B;P	0.41784	0.652;0.096;0.762	B;B;B	0.32149	0.068;0.028;0.141	T	0.23404	-1.0189	10	0.10902	T	0.67	.	8.1549	0.31162	0.1351:0.7287:0.0:0.1363	.	2979;2979;2979	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	2979	ENSP00000360158:R2979Q;ENSP00000341097:R2979Q	ENSP00000341097:R2979Q	R	-	2	0	PKHD1	51725972	0.011000	0.17503	0.005000	0.12908	0.115000	0.19883	2.559000	0.45888	0.410000	0.25675	-0.150000	0.13652	CGA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		213	305	0	0	0	1	0	213	305					T	51618013	C	T	51618013	3	4	66	1	0	0	0	0	1	0	0	0	12013	884	31	1	3371	1	PKHD1	6	51618013	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	810088	51618013	119497054	117	8060											
FAM135A	57579	broad.mit.edu	37	chr6	71246002	71246002	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatttaataattcgttcAgtgcttacaaggccaaggtt	9	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:71246002A>T	ENST00000418814.2	+	19	4619	c.4005A>T	c.(4003-4005)tcA>tcT	p.S1335S	FAM135A_ENST00000457062.2_Silent_p.S1122S|FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S|FAM135A_ENST00000505868.1_Silent_p.S1335S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1335										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATTCGTTCAGTGCTTACAA	0.348																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(4003-4005)tcA>tcT		family with sequence similarity 135, member A							136	138	137					6																	71246002		2202	4299	6501	SO:0001819	synonymous_variant	57579							g.chr6:71246002A>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4005A>T	6.37:g.71246002A>T						FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000505868.1_Silent_p.S1335S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000457062.2_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S	p.S1335S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			19	4619	+			1335					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.4005A>T	CCDS55028.1																																																																																				0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		157	224	0	0	0	1	0	157	224					T	71246002	A	T	71246002	2	4	66	1	0	0	0	0	0	0	0	1	5469	175	7	5		5	FAM135A	6	71246002	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	19627989	71246002	99869065	118	8061											
KCNQ5	56479	broad.mit.edu	37	chr6	73751750	73751750	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatagaggatggcaaggaaGactgaggtttgctcgaaagc	14	5	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:73751750G>A	ENST00000370398.1	+	3	690	c.581G>A	c.(580-582)aGa>aAa	p.R194K	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	194					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGCAAGGAAGACTGAGGTTT	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(580-582)aGa>aAa		potassium voltage-gated channel, KQT-like subfamily, member 5							320	287	298					6																	73751750		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73751750G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.581G>A	6.37:g.73751750G>A	ENSP00000359425:p.Arg194Lys					KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K	p.R194K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	979	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	194					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.581G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258154	0.95368	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	D;D;D;D;D;D;D;D;D;D	0.99552	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-6.15;-4.38	6.17	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	L	0.52364	1.645	0.48696	D	0.999691	P;D;D;D;D;D	0.89917	0.953;0.999;0.998;0.997;1.0;0.997	P;D;D;D;D;D	0.83275	0.859;0.987;0.983;0.989;0.996;0.98	D	0.99338	1.0911	10	0.39692	T	0.17	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	194;194;194;194;194;194	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	K	194;194;194;194;194;194;194;194;194;32;31	ENSP00000345055:R194K;ENSP00000347326:R194K;ENSP00000359425:R194K;ENSP00000359419:R194K;ENSP00000385501:R194K;ENSP00000347853:R194K;ENSP00000384453:R194K;ENSP00000409861:R194K;ENSP00000414829:R32K;ENSP00000391971:R31K	ENSP00000345055:R194K	R	+	2	0	KCNQ5	73808471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.602000	0.50124	0.655000	0.94253	AGA		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		54	858	0	0	0	1	0	54	858					A	73751750	G	A	73751750	3	1	66	1	0	0	0	0	1	0	0	0	8116	942	33	2	591	2	KCNQ5	6	73751750	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2505748	73751750	97363317	119	8062											
COL12A1	1303	broad.mit.edu	37	chr6	75884785	75884785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttcaccaaagagggcGtctccagccccagacgcata	9	15	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:75884785G>A	ENST00000322507.8	-	13	2988	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAAGAGGGCGTCTCCAGCCC	0.468																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2677-2679)gaC>gaT		collagen, type XII, alpha 1							190	186	187					6																	75884785		1983	4159	6142	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884785G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2679C>T	6.37:g.75884785G>A						COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000416123.2_Silent_p.D893D	p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2988	-			893			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2679C>T	CCDS43482.1																																																																																				0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		62	782	0	0	0	1	0	62	782					A	75884785	G	A	75884785	2	1	66	1	0	0	0	0	0	0	0	1	3678	1136	40	1		1	COL12A1	6	75884785	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2133035	75884785	95230282	120	8063											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			14	410						14	410	---	---	---	---	A	80751897	-	A	80751896	7	5	66	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	4867111	80751896	90363171	121	8064											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	465						8	465	---	---	---	---	-	88144700	A	-	88144700	7	5	66	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	7392804	88144700	82970367	122	8065											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-													ttataataataatagtaaggAtcatcatcatcatcagaggt					rs561556028		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.36	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	543						9	543	---	---	---	---	-	146264836	ATC	-	146264834	7	5	66	1	0	1	0	1	0	0	0	0	14341	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Del	DEL	ATC	TCGA-HV-A7OP-01A-11D-A33T-08	58120134	146264834	24850233	123	8066											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161016	151161017	+	Frame_Shift_Del	DEL	AG	AG	-													tgtatgaccagattgtattcAgagagtctcccttgaaaatt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:151161016_151161017delAG	ENST00000358517.2	+	16	3353_3354	c.3142_3143delAG	c.(3142-3144)agafs	p.R1048fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.R1048fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1048							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		GATTGTATTCAGAGAGTCTCCC	0.475																																						ENST00000367328.1																			0				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						c.(3142-3144)afs		pleckstrin homology domain containing, family G (with RhoGef domain) member 1																																				SO:0001589	frameshift_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161016_151161017delAG	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.3142_3143delAG	6.37:g.151161020_151161021delAG	ENSP00000351318:p.Arg1048fs					PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.R1048fs	p.R1048fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3454_3455	+			1048					Q5T1F2	Frame_Shift_Del	DEL	ENST00000358517.2	37	c.3142_3143delAG	CCDS34552.1																																																																																				0.475	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			209	345						209	345	---	---	---	---	-	151161017	AG	-	151161016	7	5	66	1	0	1	0	1	0	0	0	0	12110	180	7	0	3200	0	PLEKHG1	6	151161016	Frame_Shift_Del	DEL	AG	TCGA-HV-A7OP-01A-11D-A33T-08	4896182	151161016	19954051	124	8067											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg					rs547492676	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)del		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del					FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.65	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		7	157						7	157	---	---	---	---	-	159655081	GAC	-	159655079	7	5	66	1	0	1	0	1	0	0	0	0	5993	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-HV-A7OP-01A-11D-A33T-08	8494063	159655079	11459988	125	8068											
C6orf118	168090	broad.mit.edu	37	chr6	165715668	165715668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggtggtctttctgaAgccgattcagaagtttcttc	9	12	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:165715668A>G	ENST00000230301.8	-	2	163	c.143T>C	c.(142-144)cTt>cCt	p.L48P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	48										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)		GTCTTTCTGAAGCCGATTCAG	0.552																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(142-144)cTt>cCt		chromosome 6 open reading frame 118							85	93	90					6																	165715668		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715668A>G		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.143T>C	6.37:g.165715668A>G	ENSP00000230301:p.Leu48Pro					C6orf118_ENST00000543069.1_5'UTR	p.L48P	NM_144980.3	NP_659417.2	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	163	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	48					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.143T>C	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050425	0.55218	.	.	ENSG00000112539	ENST00000230301	T	0.17691	2.26	5.31	5.31	0.75309	.	0.707524	0.13218	N	0.404618	T	0.28200	0.0696	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.01657	-1.1302	10	0.87932	D	0	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	48	Q5T5N4	CF118_HUMAN	P	48	ENSP00000230301:L48P	ENSP00000230301:L48P	L	-	2	0	C6orf118	165635658	0.188000	0.23250	0.000000	0.03702	0.002000	0.02628	4.774000	0.62339	2.012000	0.59069	0.533000	0.62120	CTT		0.552	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		258	314	0	0	0	1	0	258	314					G	165715668	A	G	165715668	3	3	66	1	0	0	0	0	1	0	0	0	2330	72	3	4	1298	4	C6orf118	6	165715668	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	6060589	165715668	5399399	126	8069											
HEATR2	54919	broad.mit.edu	37	chr7	803512	803512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaggacctctaccgcaagCacattggtcccctcctggag	10	16	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:803512C>G	ENST00000297440.6	+	8	1704	c.1684C>G	c.(1684-1686)Cac>Gac	p.H562D	HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	562						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCGCAAGCACATTGGTCC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1684-1686)Cac>Gac		HEAT repeat containing 2							151	128	136					7																	803512		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:803512C>G	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1684C>G	7.37:g.803512C>G	ENSP00000297440:p.His562Asp					HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1704	+		Ovarian(82;0.0112)	562					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1684C>G	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.366824|2.366824	0.41902|0.41902	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.66280	.|-0.2;-0.2	5.03|5.03	3.23|3.23	0.37069|0.37069	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75376|0.75376	0.3841|0.3841	M|M	0.81239|0.81239	2.535|2.535	0.48975|0.48975	D|D	0.999731|0.999731	.|D;D	.|0.62365	.|0.973;0.991	.|P;P	.|0.60789	.|0.528;0.879	T|T	0.77349|0.77349	-0.2621|-0.2621	5|10	.|0.72032	.|D	.|0.01	-41.7014|-41.7014	11.5093|11.5093	0.50484|0.50484	0.0:0.8524:0.0:0.1476|0.0:0.8524:0.0:0.1476	.|.	.|562;308	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	G|D	363|562;562;308	.|ENSP00000297440:H562D;ENSP00000321451:H562D	.|ENSP00000297440:H562D	A|H	+|+	2|1	0|0	HEATR2|HEATR2	770038|770038	0.998000|0.998000	0.40836|0.40836	0.018000|0.018000	0.16275|0.16275	0.082000|0.082000	0.17680|0.17680	3.409000|3.409000	0.52657|0.52657	0.630000|0.630000	0.30394|0.30394	-0.254000|-0.254000	0.11334|0.11334	GCA|CAC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		287	445	0	0	0	1	0	287	445					G	803512	C	G	803512	3	3	66	1	0	0	0	0	1	0	0	0	7058	710	25	5	1714	5	HEATR2	7	803512	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		803512	158335151	127	8070											
DGKB	1607	broad.mit.edu	37	chr7	14661065	14661065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttattcttgtcaatcaCtttgtttggctgctgggaac	8	8	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:14661065C>T	ENST00000403951.2	-	15	1644	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M|DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					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)			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						TTGTCAATCACTTTGTTTGGC	0.313																																						ENST00000403951.2																			0				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						c.(1225-1227)Gtg>Atg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						134	118	123					7																	14661065		1832	4081	5913	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.chr7:14661065C>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.1225G>A	7.37:g.14661065C>T	ENSP00000385780:p.Val409Met					DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M	p.V409M			Q9Y6T7	DGKB_HUMAN			15	1644	-			409					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1225G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303842	0.23736	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.23;-1.23;-1.21;-1.32	4.86	2.91	0.33838	.	1.575650	0.03746	N	0.255779	T	0.71584	0.3357	N	0.22421	0.69	0.23893	N	0.996546	B;B;B;B	0.24651	0.033;0.035;0.069;0.108	B;B;B;B	0.28916	0.029;0.096;0.022;0.029	T	0.58446	-0.7635	10	0.31617	T	0.26	.	7.5278	0.27666	0.2534:0.4877:0.259:0.0	.	408;390;409;409	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	M	409;409;409;408;401;390;409	ENSP00000385780:V409M;ENSP00000382260:V409M;ENSP00000258767:V409M;ENSP00000384909:V408M;ENSP00000385031:V401M;ENSP00000388451:V390M;ENSP00000386066:V409M	ENSP00000258767:V409M	V	-	1	0	DGKB	14627590	0.027000	0.19231	0.999000	0.59377	0.704000	0.40688	0.425000	0.21346	1.179000	0.42884	-0.678000	0.03780	GTG		0.313	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		17	159	0	0	0	1	0	17	159					T	14661065	C	T	14661065	3	4	66	1	0	0	0	0	1	0	0	0	4482	565	20	2	1252	2	DGKB	7	14661065	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	13857553	14661065	144477598	128	8071											
STK31	56164	broad.mit.edu	37	chr7	23775341	23775341	+	Frame_Shift_Del	DEL	A	A	-													cagaactgacatctgtgaggAaaaaaaattggatcctggtc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:23775341delA	ENST00000355870.3	+	7	787	c.668delA	c.(667-669)gaafs	p.E223fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000354639.3_Frame_Shift_Del_p.E200fs|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																						ENST00000354639.3																			1	Substitution - Missense(1)	p.E223V(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(598-600)gafs		serine/threonine kinase 31			,,	10,4254		5,0,2127	102	100	101		,,	4.3	1	7		102	11,8243		5,1,4121	no	frameshift,frameshift,frameshift	STK31	NM_032944.2,NM_031414.3,NM_001122833.1	,,	10,1,6248	A1A1,A1R,RR		0.1333,0.2345,0.1678	,,	,,	23775341	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775341delA	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668delA	7.37:g.23775341delA	ENSP00000348132:p.Glu223fs					STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.E223fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000405627.3_3'UTR	p.E200fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	1063	+			223					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Del	DEL	ENST00000355870.3	37	c.599delA	CCDS5386.1																																																																																				0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		8	548						8	548	---	---	---	---	-	23775341	A	-	23775341	7	5	66	1	0	1	0	1	0	0	0	0	15348	246	9	0	694	0	STK31	7	23775341	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	9114276	23775341	135363322	129	8072											
PURB	5814	broad.mit.edu	37	chr7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-													catctcatccgcataccggcAaaaggcgcctccgaacttgc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95	104	101					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		9	1046						9	1046	---	---	---	---	-	44924131	A	-	44924131	7	5	66	1	0	1	0	1	0	0	0	0	12878	130	5	0	125	0	PURB	7	44924131	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	21148790	44924131	114214532	130	8073											
MYO1G	64005	broad.mit.edu	37	chr7	45005372	45005372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcagccaggtgagcccGcaccttgtgtctccggaacc	11	16	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:45005372G>A	ENST00000258787.7	-	17	2381	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	749						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGTGAGCCCGCACCTTGTGT	0.682																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(2245-2247)Cgg>Tgg		myosin IG							49	49	49					7																	45005372		2202	4300	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45005372G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2245C>T	7.37:g.45005372G>A	ENSP00000258787:p.Arg749Trp						p.R749W	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			17	2381	-			749					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2245C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847487	0.71603	.	.	ENSG00000136286	ENST00000258787	T	0.77620	-1.11	4.22	4.22	0.49857	.	0.511740	0.14505	U	0.315482	D	0.86514	0.5951	M	0.78344	2.41	0.36113	D	0.844913	D	0.89917	1.0	D	0.73708	0.981	D	0.88899	0.3351	10	0.87932	D	0	.	9.9996	0.41920	0.0:0.0:0.6808:0.3192	.	749	B0I1T2	MYO1G_HUMAN	W	749	ENSP00000258787:R749W	ENSP00000258787:R749W	R	-	1	2	MYO1G	44971897	0.997000	0.39634	0.814000	0.32528	0.885000	0.51271	3.511000	0.53400	2.050000	0.60909	0.462000	0.41574	CGG		0.682	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			5	435	0	0	0	1	0	5	435					A	45005372	G	A	45005372	3	1	66	1	0	0	0	0	1	0	0	0	10115	1086	38	1	835	1	MYO1G	7	45005372	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	81241	45005372	114133291	131	8074											
ABCA13	154664	broad.mit.edu	37	chr7	48313734	48313734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaatttgagattttattaGctcttttaaatgattccaca	4	6	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:48313734G>A	ENST00000435803.1	+	17	4495	c.4471G>A	c.(4471-4473)Gct>Act	p.A1491T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1491					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						GATTTTATTAGCTCTTTTAAA	0.294																																						ENST00000435803.1																			0				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						c.(4471-4473)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13							25	25	25					7																	48313734		1799	4053	5852	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313734G>A	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.4471G>A	7.37:g.48313734G>A	ENSP00000411096:p.Ala1491Thr						p.A1491T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4495	+			1491					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4471G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309902	0.05458	.	.	ENSG00000179869	ENST00000435803	D	0.84589	-1.87	5.44	2.11	0.27256	.	0.308537	0.22285	N	0.062075	T	0.57373	0.2049	N	0.01800	-0.715	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31138	-0.9954	9	.	.	.	.	3.223	0.06723	0.6327:0.0:0.1574:0.2098	.	1491	Q86UQ4	ABCAD_HUMAN	T	1491	ENSP00000411096:A1491T	.	A	+	1	0	ABCA13	48284280	0.195000	0.23338	1.000000	0.80357	0.964000	0.63967	1.733000	0.38156	0.211000	0.20683	0.563000	0.77884	GCT		0.294	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		48	76	0	0	0	1	0	48	76					A	48313734	G	A	48313734	3	1	66	1	0	0	0	0	1	0	0	0	31	971	34	2	4366	2	ABCA13	7	48313734	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3308362	48313734	110824929	132	8075											
ABCB1	5243	broad.mit.edu	37	chr7	87229495	87229495	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcggtccccttcaagAtccattccgacctgaagaga	8	14	1	3	rs373703839		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:87229495A>C	ENST00000265724.3	-	3	423	c.6T>G	c.(4-6)gaT>gaG	p.D2E	ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	2					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)			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)	CCCCTTCAAGATCCATTCCGA	0.458																																						ENST00000265724.3																			0				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						c.(4-6)gaT>gaG		ATP-binding cassette, sub-family B (MDR/TAP), 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)						80	76	78					7																	87229495		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.chr7:87229495A>C	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.6T>G	7.37:g.87229495A>C	ENSP00000265724:p.Asp2Glu					ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			3	423	-	Esophageal squamous(14;0.00164)		2					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.6T>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	7.979	0.750747	0.15778	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87966	-2.21;-2.32;1.9	3.89	-4.18	0.03846	.	1.413240	0.05199	N	0.504565	T	0.68284	0.2984	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.12156	0.0;0.007	T	0.54309	-0.8313	10	0.21540	T	0.41	-8.3796	1.998	0.03461	0.2186:0.4511:0.178:0.1522	.	2;2	B5AK60;P08183	.;MDR1_HUMAN	E	2	ENSP00000265724:D2E;ENSP00000444095:D2E;ENSP00000399419:D2E	ENSP00000265724:D2E	D	-	3	2	ABCB1	87067431	0.221000	0.23642	0.014000	0.15608	0.035000	0.12851	0.083000	0.14871	-0.773000	0.04596	0.533000	0.62120	GAT		0.458	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	139	0	0	0	1	0	14	139					C	87229495	A	C	87229495	3	2	66	1	0	0	0	0	1	0	0	0	40	330	12	4	3944	4	ABCB1	7	87229495	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	38915761	87229495	71909168	133	8076											
AKAP9	10142	broad.mit.edu	37	chr7	91674456	91674456	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctagtaaaagccagtcatCtgccagcctaatttggaggt	9	9	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:91674456C>A	ENST00000359028.2	+	22	5558	c.5333C>A	c.(5332-5334)tCt>tAt	p.S1778Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1778					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCCAGTCATCTGCCAGCCTA	0.418			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5332-5334)tCt>tAt		A kinase (PRKA) anchor protein 9							116	115	116					7																	91674456		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674456C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5333C>A	7.37:g.91674456C>A	ENSP00000351922:p.Ser1778Tyr					AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y	p.S1778Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		22	5558	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1778					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5333C>A		.	.	.	.	.	.	.	.	.	.	C	9.196	1.027183	0.19512	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03580	3.88;3.88;3.88	4.64	2.78	0.32641	.	0.383860	0.19323	N	0.117094	T	0.08891	0.0220	M	0.61703	1.905	0.09310	N	1	P;P;P	0.51351	0.906;0.944;0.944	P;P;P	0.51135	0.459;0.66;0.66	T	0.06534	-1.0821	10	0.87932	D	0	.	10.2829	0.43550	0.0:0.79:0.1354:0.0746	.	1778;1766;1766	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	1766;1778;1778;1778	ENSP00000348573:S1766Y;ENSP00000351922:S1778Y;ENSP00000350813:S1778Y	ENSP00000348573:S1766Y	S	+	2	0	AKAP9	91512392	0.042000	0.20092	0.035000	0.18076	0.487000	0.33371	1.006000	0.29847	0.657000	0.30906	0.650000	0.86243	TCT		0.418	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		252	306	1	0	6.46175e-136	1	7.12947e-136	252	306					A	91674456	C	A	91674456	3	1	66	1	0	0	0	0	1	0	0	0	459	913	32	3	5379	3	AKAP9	7	91674456	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4444961	91674456	67464207	134	8077											
COL1A2	1278	broad.mit.edu	37	chr7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactctagggtgatcctgGcaaaaacggtgataaaggtc	11	7	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1513-1515)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						278	248	258					7																	94042405		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94042405G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1514G>A	7.37:g.94042405G>A	ENSP00000297268:p.Gly505Asp	HNSCC(75;0.22)					p.G505D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		26	1985	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		505					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1514G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743563	0.69418	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96962	0.9702	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	505	P08123	CO1A2_HUMAN	D	505;506	ENSP00000297268:G505D	ENSP00000297268:G505D	G	+	2	0	COL1A2	93880341	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.817000	0.99352	2.861000	0.98227	0.655000	0.94253	GGC		0.398	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	891	0	0	0	1	0	6	891					A	94042405	G	A	94042405	3	1	66	1	0	0	0	0	1	0	0	0	3687	1203	42	2	1616	2	COL1A2	7	94042405	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2367949	94042405	65096258	135	8078											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1266	0	0	0	1	0	9	1266					G	99913460	A	G	99913460	2	3	66	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	5871055	99913460	59225203	136	8079											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			13	474						13	474	---	---	---	---	-	100028825	CCA	-	100028823	7	5	66	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-HV-A7OP-01A-11D-A33T-08	115363	100028823	59109840	137	8080											
MUC17	140453	broad.mit.edu	37	chr7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtctgtcagcaccatgCcggtggccagttctgaggct	13	11	3	1	rs540856466	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	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)					CAGCACCATGCCGGTGGCCAG	0.507													C|||	2	0.000399361	0.0	0.0029	5008	,	,		25028	0.0		0.0	False		,,,				2504	0.0					ENST00000306151.4																			0				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						c.(8992-8994)Ccg>Tcg		mucin 17, cell surface associated							250	262	258					7																	100683689		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683689C>T	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.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser						p.P2998S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9056	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2998			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8992C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	1947	0	0	0	1	0	10	1947					T	100683689	C	T	100683689	3	4	66	1	0	0	0	0	1	0	0	0	10015	739	26	2	9002	2	MUC17	7	100683689	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	654866	100683689	58454974	138	8081											
PIK3CG	5294	broad.mit.edu	37	chr7	106508584	106508584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggccagccgcgaccCcaagctctacgccatgcacc	12	17	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:106508584C>T	ENST00000359195.3	+	2	888	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	193					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCGCGACCCCAAGCTCTAC	0.617																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(577-579)cCc>cTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							71	75	74					7																	106508584		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508584C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.578C>T	7.37:g.106508584C>T	ENSP00000352121:p.Pro193Leu					PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L	p.P193L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	888	+			193					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.578C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977776	0.18812	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.5	4.61	0.57282	.	0.266178	0.43747	D	0.000530	T	0.61627	0.2362	L	0.42245	1.32	0.58432	D	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.57499	-0.7801	10	0.09843	T	0.71	-5.6703	16.5907	0.84764	0.0:0.8695:0.1305:0.0	.	193	P48736	PK3CG_HUMAN	L	193	ENSP00000392258:P193L;ENSP00000419260:P193L;ENSP00000352121:P193L	ENSP00000352121:P193L	P	+	2	0	PIK3CG	106295820	1.000000	0.71417	0.476000	0.27291	0.330000	0.28571	5.891000	0.69782	1.429000	0.47314	0.591000	0.81541	CCC		0.617	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			28	441	0	0	0	1	0	28	441					T	106508584	C	T	106508584	3	4	66	1	0	0	0	0	1	0	0	0	11958	623	22	2	580	2	PIK3CG	7	106508584	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	5824895	106508584	52630079	139	8082											
IMPDH1	3614	broad.mit.edu	37	chr7	128035019	128035019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggtacttcttgagccGcaccccgtctgagaagaagt	11	14	2	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:128035019G>A	ENST00000480861.1	-	11	1281	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R492W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTCTTGAGCCGCACCCCGTCT	0.617																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1474-1476)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						58	68	64					7																	128035019		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128035019G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1204C>T	7.37:g.128035019G>A	ENSP00000420185:p.Arg402Trp					IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000480861.1_Missense_Mutation_p.R402W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W	p.R492W	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			14	1824	-			407						Missense_Mutation	SNP	ENST00000480861.1	37	c.1474C>T	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577928	0.45902	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.56	1.1	0.20463	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	M	0.91768	3.24	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D	0.81914	0.972;0.981;0.97;0.989;0.995;0.991;0.993;0.968	D	0.89758	0.3945	10	0.87932	D	0	-12.0627	11.6853	0.51483	0.0:0.0:0.3774:0.6226	.	459;402;407;423;482;456;492;382	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	W	459;492;382;482;423;456;382;406;402	ENSP00000399400:R459W;ENSP00000345096:R492W;ENSP00000420803:R382W;ENSP00000346219:R482W;ENSP00000367989:R423W;ENSP00000265385:R456W;ENSP00000342438:R382W;ENSP00000417296:R406W;ENSP00000420185:R402W	ENSP00000345096:R492W	R	-	1	2	IMPDH1	127822255	0.861000	0.29849	0.997000	0.53966	0.983000	0.72400	1.127000	0.31357	0.002000	0.14630	-0.397000	0.06425	CGG		0.617	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		6	554	0	0	0	1	0	6	554					A	128035019	G	A	128035019	3	1	66	1	0	0	0	0	1	0	0	0	7756	1086	38	1	341	1	IMPDH1	7	128035019	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	21526435	128035019	31103644	140	8083											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	920						7	920	---	---	---	---	-	142562309	G	-	142562309	7	5	66	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	14527290	142562309	16576354	141	8084											
FAM131B	9715	broad.mit.edu	37	chr7	143053772	143053772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtgactccaggtcccgGcatcccgcatcctcttcctc	8	17	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:143053772G>A	ENST00000409408.1	-	6	2578	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000409346.1_Silent_p.C290C|FAM131B_ENST00000443739.2_Silent_p.C318C|FAM131B_ENST00000409222.3_Silent_p.C290C			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	290										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGTCCCGGCATCCCGCAT	0.622																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(868-870)tgC>tgT		family with sequence similarity 131, member B							163	169	167					7																	143053772		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053772G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.870C>T	7.37:g.143053772G>A						FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000409346.1_Silent_p.C290C|FAM131B_ENST00000409222.3_Silent_p.C290C|FAM131B_ENST00000443739.2_Silent_p.C318C	p.C290C			Q86XD5	F131B_HUMAN			6	2578	-	Melanoma(164;0.205)		290					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.870C>T	CCDS5882.1																																																																																				0.622	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		7	1204	0	0	0	1	0	7	1204					A	143053772	G	A	143053772	2	1	66	1	0	0	0	0	0	0	0	1	5461	1195	42	2		2	FAM131B	7	143053772	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	491463	143053772	16084891	142	8085											
ZNF398	57541	broad.mit.edu	37	chr7	148851398	148851398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaacttctggatcctgcGgctccctccaggtattaagg	11	12	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:148851398G>A	ENST00000475153.1	+	2	653	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	129					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGGATCCTGCGGCTCCCTCCA	0.517																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(385-387)cGg>cAg		zinc finger protein 398							47	50	49					7																	148851398		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851398G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.386G>A	7.37:g.148851398G>A	ENSP00000420418:p.Arg129Gln					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q	p.R129Q			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	653	+	Melanoma(164;0.15)		129					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.386G>A	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950016	0.92660	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10099	2.91;2.93	5.18	5.18	0.71444	.	0.000000	0.45126	D	0.000395	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	T	0.00548	-1.1677	10	0.48119	T	0.1	-22.5854	14.2249	0.65853	0.0:0.0:1.0:0.0	.	134;129	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	129;134	ENSP00000420418:R129Q;ENSP00000439340:R134Q	ENSP00000420418:R129Q	R	+	2	0	ZNF398	148482331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.370000	0.44240	2.420000	0.82092	0.655000	0.94253	CGG		0.517	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			208	266	0	0	0	1	0	208	266					A	148851398	G	A	148851398	3	1	66	1	0	0	0	0	1	0	0	0	17938	1116	39	1	392	1	ZNF398	7	148851398	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5797626	148851398	10287265	143	8086											
ACCN3	9311	broad.mit.edu	37	chr7	150746330	150746330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctgggcctggatcccGcagagcacgccgccttcctg	13	17	0	1	rs370369500		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:150746330G>A	ENST00000349064.5	+	1	556	c.358G>A	c.(358-360)Gca>Aca	p.A120T	ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T|ASIC3_ENST00000357922.4_Missense_Mutation_p.A120T	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	120					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTGGATCCCGCAGAGCACGC	0.701																																						ENST00000357922.4																			0											c.(358-360)Gca>Aca		acid-sensing (proton-gated) ion channel 3		G	THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	46	45	45		358,358,358	0.1	0	7		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	58,58,58	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	120/532,120/550,120/544	150746330	1,12999	2202	4298	6500	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746330G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.358G>A	7.37:g.150746330G>A	ENSP00000344838:p.Ala120Thr					ASIC3_ENST00000349064.5_Missense_Mutation_p.A120T|ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T	p.A120T	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	952	+			120					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.358G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	3.935	-0.015398	0.07681	0.0	1.16E-4	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64085	-0.08;-0.08;-0.08	5.2	0.107	0.14544	.	0.246910	0.20236	U	0.096388	T	0.39118	0.1066	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.003	T	0.10064	-1.0646	10	0.13853	T	0.58	-5.1697	1.9702	0.03404	0.3099:0.1254:0.4362:0.1285	.	120;120;120	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	T	120	ENSP00000350600:A120T;ENSP00000344838:A120T;ENSP00000297512:A120T	ENSP00000297512:A120T	A	+	1	0	ACCN3	150377263	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.269000	0.08596	0.032000	0.15435	-0.424000	0.05967	GCA		0.701	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	301	0	0	0	1	0	5	301					A	150746330	G	A	150746330	3	1	66	1	0	0	0	0	1	0	0	0	130	1087	38	1	360	1	ACCN3	7	150746330	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1894932	150746330	8392333	144	8087											
MCPH1	79648	broad.mit.edu	37	chr8	6301971	6301971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgatctttgtggaaactcagGatgtggaaatcaggaaagga	13	4	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:6301971G>T	ENST00000344683.5	+	8	804	c.728G>T	c.(727-729)gGa>gTa	p.G243V	MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V|MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	243					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAACTCAGGATGTGGAAAT	0.338																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(727-729)gGa>gTa		microcephalin 1							130	122	124					8																	6301971		1865	4104	5969	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6301971G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.728G>T	8.37:g.6301971G>T	ENSP00000342924:p.Gly243Val					MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V|MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V	p.G243V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	804	+		Hepatocellular(245;0.0663)	243					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.728G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968033	0.53507	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.12361	2.69;2.69;2.69	4.15	-5.5	0.02576	.	2.693600	0.00817	N	0.001556	T	0.18923	0.0454	M	0.65975	2.015	0.09310	N	1	P;P;P	0.42518	0.782;0.754;0.627	B;P;B	0.47603	0.42;0.551;0.343	T	0.37820	-0.9689	10	0.56958	D	0.05	-0.9339	1.6608	0.02792	0.4421:0.2628:0.1627:0.1323	.	195;243;243	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	V	243;243;195	ENSP00000342924:G243V;ENSP00000430962:G243V;ENSP00000430768:G195V	ENSP00000342924:G243V	G	+	2	0	MCPH1	6289379	0.000000	0.05858	0.000000	0.03702	0.479000	0.33129	-0.868000	0.04236	-1.093000	0.03058	-0.835000	0.03068	GGA		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		86	320	1	0	1.56177e-18	1	1.68937e-18	86	320					T	6301971	G	T	6301971	3	4	66	1	0	0	0	0	1	0	0	0	9439	1174	41	3	758	3	MCPH1	8	6301971	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		6301971	140062051	145	8088											
C8orf79	57604	broad.mit.edu	37	chr8	12870280	12870280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactggtagagattgcccGgaatagaggatgtgaagcca	14	8	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:12870280G>A	ENST00000524591.2	+	4	731	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	81							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGATTGCCCGGAATAGAGGA	0.483																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(241-243)cGg>cAg		KIAA1456							140	140	140					8																	12870280		1978	4167	6145	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12870280G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.242G>A	8.37:g.12870280G>A	ENSP00000432695:p.Arg81Gln					KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	731	+			81					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.242G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435344	0.83885	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T;T	0.50548	0.74;0.74	5.73	2.91	0.33838	Methyltransferase type 11 (1);	.	.	.	.	T	0.39545	0.1082	L	0.28054	0.825	0.80722	D	1	D;D	0.63046	0.992;0.982	P;P	0.50490	0.642;0.639	T	0.21449	-1.0245	9	0.56958	D	0.05	.	6.7573	0.23520	0.2527:0.1282:0.6191:0.0	.	81;81	E9PK20;Q9P272	.;K1456_HUMAN	Q	81	ENSP00000443288:R81Q;ENSP00000432695:R81Q	ENSP00000443288:R81Q	R	+	2	0	AC135352.2	12914651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.535000	0.53575	0.880000	0.35969	0.655000	0.94253	CGG		0.483	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		5	420	0	0	0	1	0	5	420					A	12870280	G	A	12870280	3	1	66	1	0	0	0	0	1	0	0	0	2445	1116	39	1	248	1	C8orf79	8	12870280	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	6568309	12870280	133493742	146	8089											
CPA6	57094	broad.mit.edu	37	chr8	68423884	68423884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttctgaagatcttctatGaggaccctgaatttggaatg	10	6	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:68423884G>A	ENST00000297770.4	-	4	539	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CPA6_ENST00000518549.1_Silent_p.L108L|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L108L(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)			GATCTTCTATGAGGACCCTGA	0.383																																						ENST00000297770.4																			1	Substitution - coding silent(1)	p.L108L(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(322-324)ctC>ctT		carboxypeptidase A6							140	143	142					8																	68423884		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68423884G>A	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.324C>T	8.37:g.68423884G>A						CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.L108L	p.L108L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		4	539	-			108					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.324C>T	CCDS6200.1																																																																																				0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		325	461	0	0	0	1	0	325	461					A	68423884	G	A	68423884	2	1	66	1	0	0	0	0	0	0	0	1	3803	1277	45	2		2	CPA6	8	68423884	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	55553604	68423884	77940138	147	8090											
ZBTB10	65986	broad.mit.edu	37	chr8	81399879	81399879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggctggtgccaaaagacCcctgcagatgggggaagcgt	16	10	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:81399879C>T	ENST00000430430.1	+	2	1613	c.834C>T	c.(832-834)acC>acT	p.T278T	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCAAAAGACCCCTGCAGATG	0.582																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(832-834)acC>acT		zinc finger and BTB domain containing 10							36	39	38					8																	81399879		1933	4120	6053	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81399879C>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.834C>T	8.37:g.81399879C>T						ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	p.T278T	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	1613	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		278					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.834C>T	CCDS47880.1																																																																																				0.582	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		9	188	0	0	0	1	0	9	188					T	81399879	C	T	81399879	2	4	66	1	0	0	0	0	0	0	0	1	17576	610	22	2		2	ZBTB10	8	81399879	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	12975995	81399879	64964143	148	8091											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96	103	101					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	855						8	855	---	---	---	---	-	92998419	T	-	92998419	7	5	66	1	0	1	0	1	0	0	0	0	13797	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	11598540	92998419	53365603	149	8092											
TP53INP1	94241	broad.mit.edu	37	chr8	95942776	95942776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgacttgccgagggtgGcaatccctggtaagattttg	13	8	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:95942776G>A	ENST00000342697.4	-	4	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.C163C|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	218					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.C218C(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCCGAGGGTGGCAATCCCTGG	0.468																																						ENST00000342697.4																			2	Substitution - coding silent(2)	p.C218C(2)	prostate(1)|kidney(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(652-654)tgC>tgT		tumor protein p53 inducible nuclear protein 1							199	207	204					8																	95942776		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis	PML body		g.chr8:95942776G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.654C>T	8.37:g.95942776G>A						TP53INP1_ENST00000448464.2_3'UTR|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.C163C	p.C218C	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			4	1061	-	Breast(36;8.75e-07)		218					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.654C>T	CCDS6265.1																																																																																				0.468	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			6	926	0	0	0	1	0	6	926					A	95942776	G	A	95942776	2	1	66	1	0	0	0	0	0	0	0	1	16441	1195	42	2		2	TP53INP1	8	95942776	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2944357	95942776	50421246	150	8093											
TRPS1	7227	broad.mit.edu	37	chr8	116599641	116599641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttagagtctggagttaGcagattgtagaccctgaagt	11	6	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:116599641G>A	ENST00000220888.5	-	4	2407	c.2248C>T	c.(2248-2250)Cta>Tta	p.L750L	TRPS1_ENST00000519076.1_Silent_p.L504L|TRPS1_ENST00000395715.3_Silent_p.L763L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000520276.1_Silent_p.L754L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	750	Mediates interaction with GLI3.				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)			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)			TCTGGAGTTAGCAGATTGTAG	0.498									Langer-Giedion syndrome																													ENST00000395715.3																			0				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						c.(2287-2289)Cta>Tta		trichorhinophalangeal syndrome I							195	201	199					8																	116599641		1946	4144	6090	SO:0001819	synonymous_variant	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.chr8:116599641G>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.2248C>T	8.37:g.116599641G>A						TRPS1_ENST00000520276.1_Silent_p.L754L|TRPS1_ENST00000220888.5_Silent_p.L750L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000519076.1_Silent_p.L504L	p.L763L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2864	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		750			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2287C>T																																																																																					0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		164	1068	0	0	0	1	0	164	1068					A	116599641	G	A	116599641	2	1	66	1	0	0	0	0	0	0	0	1	16646	962	34	2		2	TRPS1	8	116599641	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	20656865	116599641	29764381	151	8094											
COLEC10	10584	broad.mit.edu	37	chr8	120118316	120118316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgagggggaacccagCgacccctatggtcatgagga	15	9	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:120118316C>T	ENST00000332843.2	+	6	761	c.720C>T	c.(718-720)agC>agT	p.S240S		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	240	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGAACCCAGCGACCCCTATG	0.493																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(718-720)agC>agT		collectin sub-family member 10 (C-type lectin)							90	88	89					8																	120118316		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118316C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.720C>T	8.37:g.120118316C>T							p.S240S	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	761	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		240			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.720C>T	CCDS6327.1																																																																																				0.493	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			156	211	0	0	0	1	0	156	211					T	120118316	C	T	120118316	2	4	66	1	0	0	0	0	0	0	0	1	3719	767	27	1		1	COLEC10	8	120118316	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3518675	120118316	26245706	152	8095											
TG	7038	broad.mit.edu	37	chr8	134125688	134125688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgaggaaagtcgaggccGgaccagtagcaaaacagcct	12	9	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:134125688G>A	ENST00000220616.4	+	44	7635	c.7595G>A	c.(7594-7596)cGg>cAg	p.R2532Q	TG_ENST00000519543.1_Missense_Mutation_p.R665Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q|TG_ENST00000377869.1_Missense_Mutation_p.R2475Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2532					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)				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)		AGTCGAGGCCGGACCAGTAGC	0.483																																						ENST00000220616.4																			0				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						c.(7594-7596)cGg>cAg		thyroglobulin							72	79	77					8																	134125688		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134125688G>A	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.7595G>A	8.37:g.134125688G>A	ENSP00000220616:p.Arg2532Gln					TG_ENST00000519543.1_Missense_Mutation_p.R665Q|TG_ENST00000377869.1_Missense_Mutation_p.R2475Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q	p.R2532Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	44	7635	+	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)	2532					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7595G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686638	0.88639	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.83	4.83	0.62350	Carboxylesterase, type B (1);	0.497463	0.18205	N	0.148365	T	0.80336	0.4604	M	0.63428	1.95	0.37166	D	0.902838	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.984;0.976	D	0.84497	0.0614	10	0.87932	D	0	.	17.2863	0.87142	0.0:0.0:1.0:0.0	.	665;902;2532	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2475;1338;2532;902;665	ENSP00000367100:R2475Q;ENSP00000220616:R2532Q;ENSP00000441693:R902Q;ENSP00000430430:R665Q	ENSP00000220616:R2532Q	R	+	2	0	TG	134194870	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	7.210000	0.77924	2.381000	0.81170	0.655000	0.94253	CGG		0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	430	0	0	0	1	0	5	430					A	134125688	G	A	134125688	3	1	66	1	0	0	0	0	1	0	0	0	15865	1116	39	1	7769	1	TG	8	134125688	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	14007372	134125688	12238334	153	8096											
FAM135B	51059	broad.mit.edu	37	chr8	139145029	139145029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggttgttgatcatttctGcataaactggccctgtaaag	11	7	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:139145029G>T	ENST00000395297.1	-	20	4198	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCATTTCTGCATAAACTGG	0.493										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4027-4029)gCa>gAa		family with sequence similarity 135, member B							148	153	152					8																	139145029		1951	4145	6096	SO:0001583	missense	51059							g.chr8:139145029G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4028C>A	8.37:g.139145029G>T	ENSP00000378710:p.Ala1343Glu	HNSCC(54;0.14)					p.A1343E	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4198	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1343					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4028C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700513	0.88924	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.74	4.68	0.58851	.	0.120568	0.56097	D	0.000029	T	0.30262	0.0759	L	0.50333	1.59	0.38581	D	0.950185	D	0.89917	1.0	D	0.69307	0.963	T	0.02358	-1.1171	10	0.66056	D	0.02	-19.3604	14.7346	0.69406	0.0813:0.0:0.9187:0.0	.	1343	Q49AJ0	F135B_HUMAN	E	1343	ENSP00000378710:A1343E	ENSP00000378710:A1343E	A	-	2	0	FAM135B	139214211	1.000000	0.71417	0.833000	0.33012	0.994000	0.84299	6.617000	0.74210	2.723000	0.93209	0.655000	0.94253	GCA		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		65	917	1	0	2.93687e-30	1	3.19771e-30	65	917					T	139145029	G	T	139145029	3	4	66	1	0	0	0	0	1	0	0	0	5470	1319	46	3	196	3	FAM135B	8	139145029	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5019341	139145029	7218993	154	8097											
GRINA	2907	broad.mit.edu	37	chr8	145066693	145066693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatggtggtgctcttcAtcttcgccattctctgcatc	9	12	4	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:145066693A>G	ENST00000313269.5	+	6	1161	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	295						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGCTCTTCATCTTCGCCAT	0.617																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(883-885)Atc>Gtc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							123	95	105					8																	145066693		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066693A>G	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.883A>G	8.37:g.145066693A>G	ENSP00000314380:p.Ile295Val					GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	p.I295V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1161	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		295					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.883A>G	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.363144|1.363144	0.24684|0.24684	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000533044;ENST00000527194|ENST00000313269;ENST00000395068;ENST00000537637	.|T;T	.|0.41065	.|1.01;1.01	5.4|5.4	-5.08|-5.08	0.02929|0.02929	.|.	.|0.457240	.|0.23293	.|N	.|0.049778	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.12569|0.12569	0.235|0.235	0.22581|0.22581	N|N	0.998961|0.998961	.|B	.|0.19331	.|0.035	.|B	.|0.15870	.|0.014	T|T	0.29488|0.29488	-1.0010|-1.0010	5|10	.|0.10377	.|T	.|0.69	-14.2202|-14.2202	6.2907|6.2907	0.21059|0.21059	0.282:0.402:0.316:0.0|0.282:0.402:0.316:0.0	.|.	.|295	.|Q7Z429	.|GRINA_HUMAN	R|V	117;107|295;295;276	.|ENSP00000314380:I295V;ENSP00000378507:I295V	.|ENSP00000314380:I295V	H|I	+|+	2|1	0|0	GRINA|GRINA	145138681|145138681	0.000000|0.000000	0.05858|0.05858	0.104000|0.104000	0.21259|0.21259	0.997000|0.997000	0.91878|0.91878	-2.043000|-2.043000	0.01413|0.01413	-0.933000|-0.933000	0.03737|0.03737	0.529000|0.529000	0.55759|0.55759	CAT|ATC		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		78	122	0	0	0	1	0	78	122					G	145066693	A	G	145066693	3	3	66	1	0	0	0	0	1	0	0	0	6815	217	8	4	901	4	GRINA	8	145066693	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	5921664	145066693	1297329	155	8098											
FOXD4	2298	broad.mit.edu	37	chr9	118035	118035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctcctctcccaggaCatcgattttaccgtcttccc	4	17	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:118035C>T	ENST00000382500.2	-	1	382	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	29					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTCCCAGGACATCGATTTTA	0.652																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(85-87)Gtc>Atc		forkhead box D4							49	60	56					9																	118035		2203	4300	6503	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118035C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.85G>A	9.37:g.118035C>T	ENSP00000371940:p.Val29Ile						p.V29I	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	382	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	29					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.85G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	5.226	0.227116	0.09916	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	2.31	-0.482	0.12078	.	0.426697	0.13546	N	0.379836	D	0.82628	0.5078	N	0.04880	-0.145	0.23401	N	0.997757	B	0.06786	0.001	B	0.04013	0.001	T	0.69892	-0.5022	10	0.16420	T	0.52	.	5.686	0.17803	0.0:0.3505:0.0:0.6495	.	29	Q12950	FOXD4_HUMAN	I	29	ENSP00000371940:V29I	ENSP00000371940:V29I	V	-	1	0	FOXD4	108035	0.591000	0.26824	0.516000	0.27786	0.010000	0.07245	0.815000	0.27253	-0.311000	0.08754	-1.320000	0.01293	GTC		0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		31	666	0	0	0	1	0	31	666					T	118035	C	T	118035	3	4	66	1	0	0	0	0	1	0	0	0	6024	478	17	2	1238	2	FOXD4	9	118035	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		118035	141095396	156	8099											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	168	0	0	0	1	0	5	168					A	2039779	G	A	2039779	2	1	66	1	0	0	0	0	0	0	0	1	14819	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1921744	2039779	139173652	157	8100											
PIGO	84720	broad.mit.edu	37	chr9	35090143	35090143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgcatcccggagccGcatctccatcagtggctcct	11	16	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35090143G>A	ENST00000378617.3	-	9	3383	c.2989C>T	c.(2989-2991)Cgg>Tgg	p.R997W	PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W|PIGO_ENST00000361778.2_Missense_Mutation_p.R580W	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	997					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCCGGAGCCGCATCTCCATC	0.577																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2989-2991)Cgg>Tgg		phosphatidylinositol glycan anchor biosynthesis, class O							90	80	83					9																	35090143		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090143G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2989C>T	9.37:g.35090143G>A	ENSP00000367880:p.Arg997Trp					PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W|PIGO_ENST00000361778.2_Missense_Mutation_p.R580W	p.R997W	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3383	-			997					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2989C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550034	0.65311	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.41	1.4	0.22301	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.74881	2.28	0.27067	N	0.963411	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85774	0.1357	10	0.62326	D	0.03	-19.4639	16.391	0.83537	0.0:0.0:0.2488:0.7512	.	580;997	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	W	580;997;997;580	ENSP00000298004:R580W;ENSP00000367880:R997W;ENSP00000339382:R997W;ENSP00000354678:R580W	ENSP00000298004:R580W	R	-	1	2	PIGO	35080143	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.059000	0.41384	0.086000	0.17137	-0.181000	0.13052	CGG		0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	551	0	0	0	1	0	5	551					A	35090143	G	A	35090143	3	1	66	1	0	0	0	0	1	0	0	0	11936	1086	38	1	292	1	PIGO	9	35090143	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	33050364	35090143	106123288	158	8101											
NPR2	4882	broad.mit.edu	37	chr9	35800075	35800075	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgctatatgctgaagtcctGaatgagacaatacaggaagg	11	7	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35800075G>T	ENST00000342694.2	+	4	1299	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	348					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGAAGTCCTGAATGAGACAA	0.502																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1042-1044)ctG>ctT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						161	157	158					9																	35800075		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800075G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1044G>T	9.37:g.35800075G>T							p.L348L	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		4	1299	+	all_epithelial(49;0.161)		348					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.1044G>T	CCDS6590.1																																																																																				0.502	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			55	897	1	0	6.08268e-21	1	6.6012e-21	55	897					T	35800075	G	T	35800075	2	4	66	1	0	0	0	0	0	0	0	1	10637	1277	45	3		3	NPR2	9	35800075	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	709932	35800075	105413356	159	8102											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147	146	146					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	817	0	0	0	1	0	6	817					A	77354692	G	A	77354692	3	1	66	1	0	0	0	0	1	0	0	0	16643	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	41554617	77354692	63858739	160	8103											
VPS13A	23230	broad.mit.edu	37	chr9	79966268	79966268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagattccctccctcctgGtaaagccgtgttttatacat	7	11	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:79966268G>A	ENST00000360280.3	+	53	7585	c.7325G>A	c.(7324-7326)gGt>gAt	p.G2442D	VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2442					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCCTCCTGGTAAAGCCGTG	0.408																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7324-7326)gGt>gAt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							173	171	172					9																	79966268		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79966268G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7325G>A	9.37:g.79966268G>A	ENSP00000353422:p.Gly2442Asp					VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D	p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			53	7585	+			2442					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7325G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771926	0.69992	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.49	3.65	0.41850	Vacuolar protein sorting-associated protein (1);	0.131336	0.51477	D	0.000095	T	0.48021	0.1477	M	0.80183	2.485	0.80722	D	1	P;D;D;D	0.69078	0.925;0.997;0.996;0.996	P;D;D;D	0.69654	0.786;0.965;0.921;0.921	T	0.48581	-0.9023	10	0.18710	T	0.47	.	5.9851	0.19430	0.1934:0.0:0.659:0.1476	.	2403;2442;2442;2442	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	2442;2403;2442;2442	ENSP00000365821:G2442D;ENSP00000365823:G2403D;ENSP00000353422:G2442D;ENSP00000349985:G2442D	ENSP00000349985:G2442D	G	+	2	0	VPS13A	79156088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.688000	0.68227	0.675000	0.31264	0.555000	0.69702	GGT		0.408	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		58	696	0	0	0	1	0	58	696					A	79966268	G	A	79966268	3	1	66	1	0	0	0	0	1	0	0	0	17243	1261	44	2	7535	2	VPS13A	9	79966268	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2611576	79966268	61247163	161	8104											
NOL8	55035	broad.mit.edu	37	chr9	95077502	95077502	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attatactcctcacctccttCagagtcagctaattctgatg	5	12	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:95077502C>T	ENST00000535387.1	-	6	1404	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NOL8_ENST00000545558.1_Missense_Mutation_p.E469K|NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACCTCCTTCAGAGTCAGCT	0.443																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1405-1407)Gaa>Aaa		nucleolar protein 8							63	59	60					9																	95077502		1910	4144	6054	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077502C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1405G>A	9.37:g.95077502C>T	ENSP00000441300:p.Glu469Lys					NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000535387.1_Missense_Mutation_p.E469K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K	p.E469K			Q76FK4	NOL8_HUMAN			7	1897	-			469						Missense_Mutation	SNP	ENST00000535387.1	37	c.1405G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774843	0.31411	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.19669	2.41;2.42;2.41;2.62;2.42;2.13	5.69	4.79	0.61399	.	0.395189	0.30593	N	0.009286	T	0.23370	0.0565	L	0.38175	1.15	0.30787	N	0.741381	D	0.53619	0.961	P	0.47206	0.541	T	0.10894	-1.0610	10	0.72032	D	0.01	-10.2418	13.4958	0.61426	0.2841:0.7158:0.0:0.0	.	469	Q76FK4	NOL8_HUMAN	K	469;471;401;469;469;401;469	ENSP00000401177:E469K;ENSP00000351723:E401K;ENSP00000441140:E469K;ENSP00000441300:E469K;ENSP00000440709:E401K;ENSP00000414112:E469K	ENSP00000351723:E401K	E	-	1	0	NOL8	94117323	0.003000	0.15002	0.016000	0.15963	0.385000	0.30292	0.380000	0.20602	1.385000	0.46445	0.655000	0.94253	GAA		0.443	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		111	158	0	0	0	1	0	111	158					T	95077502	C	T	95077502	3	4	66	1	0	0	0	0	1	0	0	0	10569	835	29	2	2142	2	NOL8	9	95077502	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	15111234	95077502	46135929	162	8105											
COL27A1	85301	broad.mit.edu	37	chr9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-													cgcggggggcccgaggcacaGcggcggcggcggcggcgcgc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(37-39)del		collagen, type XXVII, alpha 1				52,1722		7,38,842						1.8	1			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918267_116918269delGCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del						p.A18del	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			1	428_430	+			18					Q66K43|Q96JF7	In_Frame_Del	DEL	ENST00000356083.3	37	c.37_39delGCG	CCDS6802.1																																																																																				0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		7	183						7	183	---	---	---	---	-	116918269	GCG	-	116918267	7	5	66	1	0	1	0	1	0	0	0	0	3694	971	34	0	39	0	COL27A1	9	116918267	In_Frame_Del	DEL	GCG	TCGA-HV-A7OP-01A-11D-A33T-08	21840765	116918267	24295164	163	8106											
AKNA	80709	broad.mit.edu	37	chr9	117099537	117099537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagaggctgtgggcgGccacttggcagctggttggg	22	7	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:117099537G>A	ENST00000307564.4	-	22	4278	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S|AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1373					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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTGTGGGCGGCCACTTGGCA	0.652																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4117-4119)Ccg>Tcg		AT-hook transcription factor							43	46	45					9																	117099537		2203	4299	6502	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099537G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4117C>T	9.37:g.117099537G>A	ENSP00000303769:p.Pro1373Ser					AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S	p.P1373S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			22	4278	-			1373					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4117C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701037	0.30142	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.48522	2.14;0.81;2.14;1.88;2.12	3.92	1.73	0.24493	.	.	.	.	.	T	0.32346	0.0826	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.15052	0.005;0.012	T	0.21724	-1.0237	9	0.42905	T	0.14	3.4487	7.9837	0.30198	0.0:0.0:0.4496:0.5504	.	1373;1292	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	S	1373;318;1373;833;1292	ENSP00000303769:P1373S;ENSP00000363192:P318S;ENSP00000363201:P1373S;ENSP00000223791:P833S;ENSP00000363188:P1292S	ENSP00000223791:P833S	P	-	1	0	AKNA	116139358	0.292000	0.24362	0.038000	0.18304	0.023000	0.10783	0.861000	0.27885	0.616000	0.30141	0.462000	0.41574	CCG		0.652	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		5	382	0	0	0	1	0	5	382					A	117099537	G	A	117099537	3	1	66	1	0	0	0	0	1	0	0	0	463	1203	42	2	206	2	AKNA	9	117099537	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	181270	117099537	24113894	164	8107											
RABEPK	10244	broad.mit.edu	37	chr9	127996170	127996171	+	In_Frame_Ins	INS	-	-	AGA													tgactcacatgaggaaagccINSagactgctacactgctctgt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:127996170_127996171insAGA	ENST00000373538.3	+	8	1340_1341	c.1030_1031insAGA	c.(1030-1032)cag>cAGAag	p.344_345insK	RABEPK_ENST00000259460.8_In_Frame_Ins_p.293_294insK|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_In_Frame_Ins_p.344_345insK	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	344					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGAGGAAAGCCAGACTGCTACA	0.436																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1030-1032)gac>AGAgac		Rab9 effector protein with kelch motifs																																				SO:0001652	inframe_insertion	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996170_127996171insAGA	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1031_1033dupAGA	9.37:g.127996171_127996173dupAGA	ENSP00000362639:p.Gln344_Thr345insLys					RABEPK_ENST00000394125.4_In_Frame_Ins_p.343_344insR|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_In_Frame_Ins_p.292_293insR	p.343_344insR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			8	1340_1341	+			343					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	In_Frame_Ins	INS	ENST00000373538.3	37	c.1030_1031insAGA	CCDS6862.1																																																																																				0.436	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		70	930						70	930	---	---	---	---	AGA	127996171	-	AGA	127996170	7	5	66	1	0	1	1	0	0	0	0	0	13013	595	21	0	1056	0	RABEPK	9	127996170	In_Frame_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	10896633	127996170	13217261	165	8108											
COL5A1	1289	broad.mit.edu	37	chr9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-													ggcaagaccggccctccaggCccccccggcgtggtcggccc					rs377265020		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2980-2982)ggfs		collagen, type V, alpha 1							67	67	67					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693829delC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	588						8	588	---	---	---	---	-	137693829	C	-	137693829	7	5	66	1	0	1	0	1	0	0	0	0	3705	726	26	0	3132	0	COL5A1	9	137693829	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	9697659	137693829	3519602	166	8109											
CARD9	64170	broad.mit.edu	37	chr9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggaccttgcactgccGcaggtaaggtgtgatgcgtg	15	9	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(103-105)Cgg>Tgg		caspase recruitment domain family, member 9							156	126	136					9																	139266428		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266428G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp					CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	268	-		Myeloproliferative disorder(178;0.0511)	35			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.103C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		10	726	0	0	0	1	0	10	726					A	139266428	G	A	139266428	3	1	66	1	0	0	0	0	1	0	0	0	2659	1086	38	1	1608	1	CARD9	9	139266428	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1572599	139266428	1947003	167	8110											
SFMBT2	57713	broad.mit.edu	37	chr10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacttggtcagatgtccGtacgattttgaccacagccc	10	12	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468																																						ENST00000361972.4																			1	Substitution - Missense(1)	p.R617G(1)	breast(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1849-1851)Cgg>Tgg		Scm-like with four mbt domains 2							108	107	107					10																	7218087		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7218087G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1849C>T	10.37:g.7218087G>A	ENSP00000355109:p.Arg617Trp					SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			17	1939	-			617					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1849C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648095	0.67358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72868	-0.4162	10	0.72032	D	0.01	.	16.3303	0.83006	0.0:0.0:0.8669:0.1331	.	617	Q5VUG0	SMBT2_HUMAN	W	617	ENSP00000355109:R617W;ENSP00000380353:R617W	ENSP00000355109:R617W	R	-	1	2	SFMBT2	7258093	1.000000	0.71417	0.041000	0.18516	0.283000	0.27025	5.140000	0.64807	1.468000	0.48064	0.655000	0.94253	CGG		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		8	848	0	0	0	1	0	8	848					A	7218087	G	A	7218087	3	1	66	1	0	0	0	0	1	0	0	0	14208	1144	40	1	855	1	SFMBT2	10	7218087	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		7218087	128316660	168	8111											
PIP4K2A	5305	broad.mit.edu	37	chr10	22862387	22862387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgacattccactatgtaCtgcataggagagaaagaaaa	8	8	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:22862387C>T	ENST00000376573.4	-	5	721		c.e5-1		PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha						megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCACTATGTACTGCATAGGAG	0.373																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.e5-1		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							83	72	76					10																	22862387		2203	4300	6503	SO:0001630	splice_region_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22862387C>T	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.493-1G>A	10.37:g.22862387C>T						PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			5	721	-								B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Splice_Site	SNP	ENST00000376573.4	37		CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485406	0.84854	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP4K2A	22902393	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.388000	0.79795	2.748000	0.94277	0.655000	0.94253	.		0.373	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	Intron	87	216	0	0	0	1	0	87	216					T	22862387	C	T	22862387	5	4	66	1	0	0	0	0	0	0	1	0	11978	579	20	2	752	2	PIP4K2A	10	22862387	Splice_Site	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	15644300	22862387	112672360	169	8112											
KIAA1217	56243	broad.mit.edu	37	chr10	24816938	24816938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagtttgagaagctccTagaagaagctcaggccaata	11	7	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:24816938T>C	ENST00000376454.3	+	14	3002	c.2972T>C	c.(2971-2973)cTa>cCa	p.L991P	KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000376451.2_Missense_Mutation_p.L674P|KIAA1217_ENST00000430453.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	991					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGAAGCTCCTAGAAGAAGCT	0.473																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2020-2022)cTa>cCa		KIAA1217							119	121	120					10																	24816938		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24816938T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2972T>C	10.37:g.24816938T>C	ENSP00000365637:p.Leu991Pro					KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L991P|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P	p.L674P			Q5T5P2	SKT_HUMAN			9	2281	+			991					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2021T>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231190	0.79688	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	6.11	4.98	0.66077	.	0.075760	0.53938	N	0.000052	T	0.74574	0.3734	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.859	D;D;D;D;D;D;D;B	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;0.999;0.435	T	0.75309	-0.3363	10	0.46703	T	0.11	.	12.0016	0.53235	0.0:0.0668:0.0:0.9332	.	956;956;674;674;674;674;991;991	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	P	911;956;674;991;956;674;674;674;674;674	ENSP00000365645:L911P;ENSP00000392625:L956P;ENSP00000365637:L991P;ENSP00000365635:L956P;ENSP00000302343:L674P;ENSP00000379722:L674P;ENSP00000365634:L674P;ENSP00000379723:L674P	ENSP00000302343:L674P	L	+	2	0	KIAA1217	24856944	0.998000	0.40836	0.954000	0.39281	0.986000	0.74619	7.670000	0.83925	1.142000	0.42291	0.533000	0.62120	CTA		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	824	0	0	0	1	0	29	824					C	24816938	T	C	24816938	3	2	66	1	0	0	0	0	1	0	0	0	8246	1522	53	4	3026	4	KIAA1217	10	24816938	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	1954551	24816938	110717809	170	8113											
MYO3A	53904	broad.mit.edu	37	chr10	26462759	26462760	+	Frame_Shift_Ins	INS	-	-	A													aacagagtgtatcagactccINSaaaaaaaatgaataatgtgt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:26462759_26462760insA	ENST00000265944.5	+	30	3732_3733	c.3566_3567insA	c.(3565-3570)ccaaaafs	p.PK1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATCAGACTCCAAAAAAAATGA	0.401																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)caafs		myosin IIIA																																				SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462759_26462760insA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3574dupA	10.37:g.26462767_26462767dupA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.Q1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3732_3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Ins	INS	ENST00000265944.5	37	c.3566_3567insA	CCDS7148.1																																																																																				0.401	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	513						8	513	---	---	---	---	A	26462760	-	A	26462759	7	5	66	1	0	1	1	0	0	0	0	0	10117	594	21	0	3676	0	MYO3A	10	26462759	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	1645821	26462759	109071988	171	8114											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	303						7	303	---	---	---	---	-	46969403	CAG	-	46969401	7	5	66	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-HV-A7OP-01A-11D-A33T-08	20506642	46969401	88565346	172	8115											
ANK3	288	broad.mit.edu	37	chr10	61834899	61834899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtattgcggtcatccGcattaggtcctctttcattt	8	10	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61834899G>A	ENST00000280772.2	-	37	5931	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1914					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCGGTCATCCGCATTAGGTCC	0.438																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5740-5742)Cgg>Tgg		ankyrin 3, node of Ranvier (ankyrin G)							132	117	122					10																	61834899		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834899G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5740C>T	10.37:g.61834899G>A	ENSP00000280772:p.Arg1914Trp					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R1914W	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5931	-			1914					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5740C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012675	0.75161	.	.	ENSG00000151150	ENST00000280772	T	0.69806	-0.43	5.59	2.34	0.29019	.	0.000000	0.38381	N	0.001719	T	0.77685	0.4167	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80790	-0.1225	10	0.87932	D	0	.	13.3221	0.60438	0.0:0.0:0.4595:0.5405	.	1914	Q12955	ANK3_HUMAN	W	1914	ENSP00000280772:R1914W	ENSP00000280772:R1914W	R	-	1	2	ANK3	61504905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.526000	0.45607	1.309000	0.44985	0.655000	0.94253	CGG		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		28	364	0	0	0	1	0	28	364					A	61834899	G	A	61834899	3	1	66	1	0	0	0	0	1	0	0	0	622	1086	38	1	7734	1	ANK3	10	61834899	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	14865498	61834899	73699848	173	8116											
CDH23	414152	broad.mit.edu	37	chr10	73472564	73472564	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccctgaaggccacagcatCttgcaggcaggtggcccgtg	13	13	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:73472564C>A	ENST00000441508.2	-	0	3730				CDH23_ENST00000224721.6_Silent_p.I1126I|C10orf105_ENST00000398786.2_3'UTR	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCCACAGCATCTTGCAGGCAG	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3376-3378)atC>atA		cadherin-related 23							29	31	31					10																	73472564		2042	4183	6225	SO:0001624	3_prime_UTR_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73472564C>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3129G>T	10.37:g.73472564C>A						C10orf105_ENST00000398786.2_3'UTR|C10orf105_ENST00000441508.2_3'UTR	p.I1126I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			27	3383	+			1121			Cadherin 11.			Silent	SNP	ENST00000441508.2	37	c.3378C>A	CCDS44430.1																																																																																				0.642	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		88	59	1	0	9.79205e-48	1	1.07323e-47	88	59					A	73472564	C	A	73472564	1	1	66	0	1	0	0	0	0	0	0	0	3117	903	32	3		3	CDH23	10	73472564	3'UTR	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	11637665	73472564	62062183	174	8117											
SEC24C	9632	broad.mit.edu	37	chr10	75527671	75527671	+	Missense_Mutation	SNP	T	T	A													ccaaggctgctgtgtagatcTctttctcttccctaaccagt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527671T>A	ENST00000339365.2	+	16	2249	c.2087T>A	c.(2086-2088)cTc>cAc	p.L696H	SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGTGTAGATCTCTTTCTCTTC	0.522																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2086-2088)cTc>cAc		SEC24 family member C							166	149	155					10																	75527671		2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75527671T>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2087T>A	10.37:g.75527671T>A	ENSP00000343405:p.Leu696His					SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	p.L696H	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			16	2249	+	Prostate(51;0.0112)		696					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2087T>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.983773	0.93044	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	D;D;D	0.81579	-1.51;-1.51;-1.51	5.98	5.98	0.97165	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.92169	0.7517	M	0.93016	3.37	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	0.93828	0.7125	10	0.87932	D	0	-14.9084	16.4728	0.84119	0.0:0.0:0.0:1.0	.	577;696;696	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	H	696;696;577	ENSP00000321845:L696H;ENSP00000343405:L696H;ENSP00000402913:L577H	ENSP00000343405:L696H	L	+	2	0	SEC24C	75197677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.296000	0.77279	0.482000	0.46254	CTC		0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			12	771	0	0	0	1	0	12	771					A	75527671	T	A	75527671	3	1	66	1	0	0	0	0	1	0	0	0	14046	1551	54	5	2141	5	SEC24C	10	75527671	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	2055107	75527671	60007076	175	8118	55	2									
SEC24C	9632	broad.mit.edu	37	chr10	75527672	75527672	+	Silent	SNP	C	C	T													caaggctgctgtgtagatctCtttctcttccctaaccagta							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527672C>T	ENST00000339365.2	+	16	2250	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTAGATCTCTTTCTCTTCC	0.522																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2086-2088)ctC>ctT		SEC24 family member C							165	149	155					10																	75527672		2203	4300	6503	SO:0001819	synonymous_variant	9632				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|zinc ion binding	g.chr10:75527672C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2088C>T	10.37:g.75527672C>T						SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	p.L696L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			16	2250	+	Prostate(51;0.0112)		696					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.2088C>T	CCDS7332.1																																																																																				0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			11	765	0	0	0	1	0	11	765					T	75527672	C	T	75527672	2	4	66	1	0	0	0	0	0	0	0	1	14046	900	32	2		2	SEC24C	10	75527672	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1	75527672	60007075	176	8119	55	2									
SH2D4B	387694	broad.mit.edu	37	chr10	82331253	82331253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaatgagaaagcccggatCttggcggagaagtggaaagt	15	7	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:82331253C>T	ENST00000470604.2	+	3	411	c.411C>T	c.(409-411)atC>atT	p.I137I	SH2D4B_ENST00000339284.2_Silent_p.I138I|SH2D4B_ENST00000313455.4_Silent_p.I89I			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	137	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGCCCGGATCTTGGCGGAGA	0.557																																						ENST00000339284.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(412-414)atC>atT		SH2 domain containing 4B							77	72	73					10																	82331253		2203	4300	6503	SO:0001819	synonymous_variant	387694							g.chr10:82331253C>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.411C>T	10.37:g.82331253C>T						SH2D4B_ENST00000313455.4_Silent_p.I89I|SH2D4B_ENST00000470604.2_Silent_p.I137I	p.I138I	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		3	844	+			137			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.414C>T																																																																																					0.557	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		66	465	0	0	0	1	0	66	465					T	82331253	C	T	82331253	2	4	66	1	0	0	0	0	0	0	0	1	14286	903	32	2		2	SH2D4B	10	82331253	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6803581	82331253	53203494	177	8120											
IFIT1	3434	broad.mit.edu	37	chr10	91162380	91162380	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agactggcagaagcccagacTtacctggacaaggtggagaa	13	9	0	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91162380T>A	ENST00000371804.3	+	2	515	c.348T>A	c.(346-348)acT>acA	p.T116T	IFIT1_ENST00000546318.1_Silent_p.T85T|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	116					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGCCCAGACTTACCTGGACA	0.493																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(253-255)acT>acA		interferon-induced protein with tetratricopeptide repeats 1							47	47	47					10																	91162380		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162380T>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.348T>A	10.37:g.91162380T>A						IFIT1_ENST00000371804.3_Silent_p.T116T|LIPA_ENST00000371837.1_Intron	p.T85T	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1542	+			116					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.255T>A	CCDS31243.1																																																																																				0.493	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		118	259	0	0	0	1	0	118	259					A	91162380	T	A	91162380	2	1	66	1	0	0	0	0	0	0	0	1	7551	1596	56	5		5	IFIT1	10	91162380	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	8831127	91162380	44372367	178	8121											
KIF20B	9585	broad.mit.edu	37	chr10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-													gaaacatttacttcaattaaAagaagaagaagaagaaacca					rs149688226	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				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)			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						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				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						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	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.chr10:91498335_91498337delAAG	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.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		8	473						8	473	---	---	---	---	-	91498337	AAG	-	91498335	7	5	66	1	0	1	0	1	0	0	0	0	8317	14	1	0	3691	0	KIF20B	10	91498335	In_Frame_Del	DEL	AAG	TCGA-HV-A7OP-01A-11D-A33T-08	335955	91498335	44036412	179	8122											
HECTD2	143279	broad.mit.edu	37	chr10	93221081	93221081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttttatctaacaacgtttGattctttcccagaattaaat	3	7	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:93221081G>A	ENST00000298068.5	+	4	572	c.478G>A	c.(478-480)Gat>Aat	p.D160N	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000446394.1_Missense_Mutation_p.D160N	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	160					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACAACGTTTGATTCTTTCCC	0.269																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(478-480)Gat>Aat		HECT domain containing E3 ubiquitin protein ligase 2							92	108	103					10																	93221081		2201	4288	6489	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221081G>A	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.478G>A	10.37:g.93221081G>A	ENSP00000298068:p.Asp160Asn					HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000298068.5_Missense_Mutation_p.D160N	p.D160N			Q5U5R9	HECD2_HUMAN			4	578	+			160					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.478G>A	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888072	0.72524	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.56275	1.16;0.47;1.17	5.1	5.1	0.69264	.	0.056638	0.64402	D	0.000002	T	0.66426	0.2788	L	0.50333	1.59	0.80722	D	1	B;B;D	0.71674	0.417;0.417;0.998	B;B;D	0.81914	0.158;0.158;0.995	T	0.60566	-0.7238	10	0.20519	T	0.43	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	160;160;160	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	N	160	ENSP00000401023:D160N;ENSP00000360746:D160N;ENSP00000298068:D160N	ENSP00000298068:D160N	D	+	1	0	HECTD2	93211061	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.253000	0.89842	2.372000	0.80975	0.467000	0.42956	GAT		0.269	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			30	939	0	0	0	1	0	30	939					A	93221081	G	A	93221081	3	1	66	1	0	0	0	0	1	0	0	0	7070	1290	45	2	492	2	HECTD2	10	93221081	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1722746	93221081	42313666	180	8123											
MMS19	64210	broad.mit.edu	37	chr10	99219886	99219886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacatgatccgcacttcgGcatggccagcacgagtcagc	12	13	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:99219886G>A	ENST00000438925.2	-	26	2908	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	MMS19_ENST00000370782.2_Missense_Mutation_p.A858V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.A760V|MMS19_ENST00000355839.6_Missense_Mutation_p.A815V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	858					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCGCACTTCGGCATGGCCAGC	0.557								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(2572-2574)gCc>gTc	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							95	83	87					10																	99219886		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99219886G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2573C>T	10.37:g.99219886G>A	ENSP00000412698:p.Ala858Val					MMS19_ENST00000370782.2_Missense_Mutation_p.A858V|MMS19_ENST00000355839.6_Missense_Mutation_p.A815V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.A760V	p.A858V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	26	2908	-		Colorectal(252;0.0846)	858					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.2573C>T	CCDS7464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.060836|5.060836	0.93846|0.93846	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839|ENST00000434538	T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;P;D|.	0.89917|.	1.0;1.0;1.0;0.803;1.0|.	D;D;D;P;D|.	0.91635|.	0.983;0.999;0.999;0.54;0.983|.	T|T	0.81703|0.81703	-0.0812|-0.0812	10|5	0.30078|.	T|.	0.28|.	.|.	19.7171|19.7171	0.96127|0.96127	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	879;760;815;858;815|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	V|S	858;858;760;837;815|433	ENSP00000412698:A858V;ENSP00000359818:A858V;ENSP00000320059:A760V;ENSP00000348097:A815V|.	ENSP00000320059:A760V|.	A|P	-|-	2|1	0|0	MMS19|MMS19	99209876|99209876	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.919000|0.919000	0.55068|0.55068	9.249000|9.249000	0.95470|0.95470	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.557	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			6	504	0	0	0	1	0	6	504					A	99219886	G	A	99219886	3	1	66	1	0	0	0	0	1	0	0	0	9713	1203	42	2	543	2	MMS19	10	99219886	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5998805	99219886	36314861	181	8124											
SCD	6319	broad.mit.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-													tccagatctctagctcctatAccaccaccaccaccattaca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(43-45)del		stearoyl-CoA desaturase (delta-9-desaturase)																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	424_426	+		Colorectal(252;0.0323)	19					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		7	1193						7	1193	---	---	---	---	-	102107838	ACC	-	102107836	7	5	66	1	0	1	0	1	0	0	0	0	13936	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-HV-A7OP-01A-11D-A33T-08	2887950	102107836	33426911	182	8125											
PSD	5662	broad.mit.edu	37	chr10	104176584	104176584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggtgagggggggccaCgcagaggtgtacagggtgct	21	8	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:104176584C>T	ENST00000020673.5	-	2	738	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PSD_ENST00000406432.1_Missense_Mutation_p.R71H|FBXL15_ENST00000224862.3_5'Flank|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	71	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGGGGCCACGCAGAGGTGT	0.672																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(211-213)cGt>cAt		pleckstrin and Sec7 domain containing							39	43	42					10																	104176584		2197	4288	6485	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176584C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.212G>A	10.37:g.104176584C>T	ENSP00000020673:p.Arg71His					PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R71H	p.R71H	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	738	-			71			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.212G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452370	0.63290	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26810	1.71;1.71	5.08	3.14	0.36123	.	0.205230	0.27876	N	0.017489	T	0.17280	0.0415	N	0.08118	0	0.27662	N	0.947057	D	0.54047	0.964	P	0.47744	0.556	T	0.05500	-1.0881	10	0.66056	D	0.02	.	10.5792	0.45246	0.1505:0.7046:0.1449:0.0	.	71	A5PKW4	PSD1_HUMAN	H	71	ENSP00000020673:R71H;ENSP00000384830:R71H	ENSP00000020673:R71H	R	-	2	0	PSD	104166574	1.000000	0.71417	0.880000	0.34516	0.986000	0.74619	3.738000	0.55067	0.495000	0.27882	0.561000	0.74099	CGT		0.672	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			183	531	0	0	0	1	0	183	531					T	104176584	C	T	104176584	3	4	66	1	0	0	0	0	1	0	0	0	12693	536	19	1	2926	1	PSD	10	104176584	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2068748	104176584	31358163	183	8126											
INA	9118	broad.mit.edu	37	chr10	105048170	105048170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccagtgggttaagcatttCggggctgaatccacttccca	10	12	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048170C>T	ENST00000369849.4	+	3	1293	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	415	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTAAGCATTTCGGGGCTGAAT	0.453																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1243-1245)tCg>tTg		internexin neuronal intermediate filament protein, alpha							120	115	116					10																	105048170		2203	4300	6503	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048170C>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1244C>T	10.37:g.105048170C>T	ENSP00000358865:p.Ser415Leu						p.S415L	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1293	+			415			Tail.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.1244C>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605805	0.46527	.	.	ENSG00000148798	ENST00000369849	D	0.84146	-1.81	5.17	3.31	0.37934	.	0.415688	0.24316	N	0.039593	T	0.70937	0.3281	N	0.19112	0.55	0.36157	D	0.847835	B	0.27264	0.173	B	0.18561	0.022	T	0.69698	-0.5075	10	0.72032	D	0.01	.	5.7714	0.18255	0.1578:0.6812:0.0:0.161	.	415	Q16352	AINX_HUMAN	L	415	ENSP00000358865:S415L	ENSP00000358865:S415L	S	+	2	0	INA	105038160	0.998000	0.40836	0.995000	0.50966	0.970000	0.65996	1.820000	0.39032	0.756000	0.33013	0.555000	0.69702	TCG		0.453	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		352	700	0	0	0	1	0	352	700					T	105048170	C	T	105048170	3	4	66	1	0	0	0	0	1	0	0	0	7760	893	31	1	1254	1	INA	10	105048170	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	871586	105048170	30486577	184	8127											
TECTB	6975	broad.mit.edu	37	chr10	114063060	114063060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatgttggggatttgtgCcgtgttataggagttagcca	14	5	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:114063060C>T	ENST00000369422.3	+	10	980	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	327						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGATTTGTGCCGTGTTATAG	0.498																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(979-981)gCc>gTc		tectorin beta							223	187	199					10																	114063060		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114063060C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.980C>T	10.37:g.114063060C>T	ENSP00000358430:p.Ala327Val						p.A327V	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	10	980	+		Colorectal(252;0.198)	327					Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.980C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251165	0.39797	.	.	ENSG00000119913	ENST00000369422	T	0.75589	-0.95	5.78	1.76	0.24704	.	0.746210	0.13690	N	0.369629	T	0.54886	0.1886	N	0.24115	0.695	0.23411	N	0.99774	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	10	0.16896	T	0.51	.	6.9036	0.24297	0.0:0.5419:0.3028:0.1552	.	327	Q96PL2	TECTB_HUMAN	V	327	ENSP00000358430:A327V	ENSP00000358430:A327V	A	+	2	0	TECTB	114053050	0.614000	0.27017	0.009000	0.14445	0.004000	0.04260	1.175000	0.31944	0.127000	0.18452	0.655000	0.94253	GCC		0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		6	865	0	0	0	1	0	6	865					T	114063060	C	T	114063060	3	4	66	1	0	0	0	0	1	0	0	0	15800	739	26	2	1018	2	TECTB	10	114063060	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	9014890	114063060	21471687	185	8128											
NRAP	4892	broad.mit.edu	37	chr10	115364582	115364582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcgctctgcagctggCccatgcgccggcagtgctgg	15	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:115364582C>T	ENST00000359988.3	-	35	4257	c.4013G>A	c.(4012-4014)gGc>gAc	p.G1338D	NRAP_ENST00000369358.4_Missense_Mutation_p.G1346D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCAGCTGGCCCATGCGCCG	0.592																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4036-4038)gGc>gAc		nebulin-related anchoring protein							78	81	80					10																	115364582		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364582C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4013G>A	10.37:g.115364582C>T	ENSP00000353078:p.Gly1338Asp					NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000359988.3_Missense_Mutation_p.G1338D	p.G1346D			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4281	-		Colorectal(252;0.0233)|Breast(234;0.188)	1338						Missense_Mutation	SNP	ENST00000359988.3	37	c.4037G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210899	0.79240	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.68	5.68	0.88126	.	0.051170	0.85682	D	0.000000	T	0.52917	0.1764	M	0.69358	2.11	0.51767	D	0.999938	B;D;D;D	0.67145	0.012;0.996;0.995;0.992	B;D;D;D	0.73380	0.004;0.955;0.98;0.955	T	0.51180	-0.8738	10	0.54805	T	0.06	.	14.2644	0.66107	0.0:0.734:0.266:0.0	.	496;1338;1303;1338	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1346;1311;1338;1303;496	ENSP00000358365:G1346D;ENSP00000358367:G1311D;ENSP00000353078:G1338D;ENSP00000353666:G1303D	ENSP00000353078:G1338D	G	-	2	0	NRAP	115354572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.780000	0.38634	2.691000	0.91804	0.650000	0.86243	GGC		0.592	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		6	930	0	0	0	1	0	6	930					T	115364582	C	T	115364582	3	4	66	1	0	0	0	0	1	0	0	0	10680	739	26	2	1211	2	NRAP	10	115364582	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1301522	115364582	20170165	186	8129											
VWA2	340706	broad.mit.edu	37	chr10	116045781	116045781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactctggacggcttcctgCgggccaaagtcttcgtgaag	12	13	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116045781C>T	ENST00000392982.3	+	11	1331	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	VWA2_ENST00000603594.1_Missense_Mutation_p.R361W			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	361	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCTTCCTGCGGGCCAAAGT	0.652																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1081-1083)Cgg>Tgg		von Willebrand factor A domain containing 2							72	76	74					10																	116045781		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045781C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1081C>T	10.37:g.116045781C>T	ENSP00000376708:p.Arg361Trp					VWA2_ENST00000392982.3_Missense_Mutation_p.R361W	p.R361W	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1402	+			361			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1081C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293428	0.80914	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83755	-1.76	5.7	2.64	0.31445	von Willebrand factor, type A (3);	0.335009	0.31589	N	0.007382	D	0.88005	0.6321	M	0.79475	2.455	0.30867	N	0.732839	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65323	0.923;0.934;0.891	D	0.85094	0.0953	10	0.66056	D	0.02	.	7.4549	0.27261	0.1256:0.6853:0.1213:0.0679	.	57;361;361	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	W	361	ENSP00000376708:R361W	ENSP00000298715:R361W	R	+	1	2	VWA2	116035771	1.000000	0.71417	0.986000	0.45419	0.895000	0.52256	3.791000	0.55469	0.729000	0.32403	0.563000	0.77884	CGG		0.652	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		6	968	0	0	0	1	0	6	968					T	116045781	C	T	116045781	3	4	66	1	0	0	0	0	1	0	0	0	17293	759	27	1	1119	1	VWA2	10	116045781	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	681199	116045781	19488966	187	8130											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-													aaattactcacaagagagagTttttggccgcactcacaata							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116062107delT	ENST00000304129.4	-	12	1450	c.1421delA	c.(1420-1422)aacfs	p.N474fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1420-1422)acfs		actin filament associated protein 1-like 2							154	171	165					10																	116062107		2203	4300	6503	SO:0001589	frameshift_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062107delT	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1421delA	10.37:g.116062107delT	ENSP00000303042:p.Asn474fs					AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs	p.N474fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1721	-		Colorectal(252;0.175)|Breast(234;0.231)	474					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	c.1421delA	CCDS31286.1																																																																																				0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		9	1635						9	1635	---	---	---	---	-	116062107	T	-	116062107	7	5	66	1	0	1	0	1	0	0	0	0	355	1725	60	0	1067	0	AFAP1L2	10	116062107	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	16326	116062107	19472640	188	8131											
HSPA12A	259217	broad.mit.edu	37	chr10	118460624	118460624	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgattggacacaccagggtCacctccctcccatcgcctgc	8	18	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:118460624C>T	ENST00000369209.3	-	4	375	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	91						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACACCAGGGTCACCTCCCTCC	0.527																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(271-273)Gac>Aac		heat shock 70kDa protein 12A							74	78	76					10																	118460624		2086	4220	6306	SO:0001583	missense	259217						ATP binding	g.chr10:118460624C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.271G>A	10.37:g.118460624C>T	ENSP00000358211:p.Asp91Asn						p.D91N	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	375	-			91						Missense_Mutation	SNP	ENST00000369209.3	37	c.271G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652948	0.88056	.	.	ENSG00000165868	ENST00000369209	T	0.44482	0.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.51764	-0.8664	10	0.29301	T	0.29	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	91	O43301	HS12A_HUMAN	N	91	ENSP00000358211:D91N	ENSP00000358211:D91N	D	-	1	0	HSPA12A	118450614	1.000000	0.71417	0.935000	0.37517	0.783000	0.44284	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GAC		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		27	607	0	0	0	1	0	27	607					T	118460624	C	T	118460624	3	4	66	1	0	0	0	0	1	0	0	0	7434	826	29	2	1792	2	HSPA12A	10	118460624	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2398517	118460624	17074123	189	8132											
C10orf90	118611	broad.mit.edu	37	chr10	128193005	128193005	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggacactgctgagacaccCtgaggtggacacaggaactg	13	11	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128193005C>G	ENST00000284694.7	-	3	884	c.764G>C	c.(763-765)aGg>aCg	p.R255T	C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	255					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGAGACACCCTGAGGTGGAC	0.522											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(763-765)aGg>aCg		chromosome 10 open reading frame 90							91	98	95					10																	128193005		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193005C>G	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.764G>C	10.37:g.128193005C>G	ENSP00000284694:p.Arg255Thr		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000368674.1_5'UTR	p.R255T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	884	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	255					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.764G>C	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485956	0.63962	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28666	1.89;1.89;1.92;1.89;1.6	5.38	1.46	0.22682	.	0.499548	0.18438	N	0.141218	T	0.42854	0.1221	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D	0.63880	0.98;0.993;0.977;0.98;0.98	P;P;P;P;P	0.59424	0.663;0.857;0.787;0.663;0.663	T	0.18461	-1.0336	10	0.87932	D	0	-9.3055	7.6307	0.28238	0.0:0.5722:0.0:0.4278	.	352;352;208;255;255	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	T	208;255;255;352;255;208;208	ENSP00000284694:R255T;ENSP00000398786:R255T;ENSP00000444369:R352T;ENSP00000405995:R255T;ENSP00000376459:R208T	ENSP00000284694:R255T	R	-	2	0	C10orf90	128182995	0.001000	0.12720	0.177000	0.23020	0.972000	0.66771	0.336000	0.19823	0.419000	0.25927	0.655000	0.94253	AGG		0.522	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		209	470	0	0	0	1	0	209	470					G	128193005	C	G	128193005	3	3	66	1	0	0	0	0	1	0	0	0	1628	681	24	5	1363	5	C10orf90	10	128193005	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	9732381	128193005	7341742	190	8133											
DOCK1	1793	broad.mit.edu	37	chr10	128923770	128923770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcttcccatgatgaccGatcagctcaagtaccatctg	7	14	3	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128923770G>A	ENST00000280333.6	+	26	2702	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	865					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGATGACCGATCAGCTCAA	0.547																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2593-2595)Gat>Aat		dedicator of cytokinesis 1							70	70	70					10																	128923770		2131	4246	6377	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128923770G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2593G>A	10.37:g.128923770G>A	ENSP00000280333:p.Asp865Asn						p.D865N	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	26	2702	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	865					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.2593G>A		.	.	.	.	.	.	.	.	.	.	G	20.1	3.941037	0.73557	.	.	ENSG00000150760	ENST00000280333	T	0.23754	1.89	4.88	4.88	0.63580	.	0.058840	0.64402	D	0.000004	T	0.31199	0.0789	M	0.78223	2.4	0.80722	D	1	B;P	0.39883	0.388;0.693	B;B	0.35770	0.067;0.21	T	0.22312	-1.0220	10	0.17832	T	0.49	.	18.4412	0.90667	0.0:0.0:1.0:0.0	.	865;865	B2RUU3;Q14185	.;DOCK1_HUMAN	N	865	ENSP00000280333:D865N	ENSP00000280333:D865N	D	+	1	0	DOCK1	128813760	1.000000	0.71417	0.703000	0.30354	0.981000	0.71138	9.618000	0.98365	2.399000	0.81585	0.557000	0.71058	GAT		0.547	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	258	0	0	0	1	0	5	258					A	128923770	G	A	128923770	3	1	66	1	0	0	0	0	1	0	0	0	4700	1058	37	1	2695	1	DOCK1	10	128923770	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	730765	128923770	6610977	191	8134											
MKI67	4288	broad.mit.edu	37	chr10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-													gcttccaaaagggagattcaTtttttttgctattgtcaaga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(697-699)atfs		marker of proliferation Ki-67							77	75	76					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913974delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs					MKI67_ENST00000368653.3_Intron	p.N233fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1073	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.698delA	CCDS7659.1																																																																																				0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	436						8	436	---	---	---	---	-	129913974	T	-	129913974	7	5	66	1	0	1	0	1	0	0	0	0	9639	1493	52	0	9108	0	MKI67	10	129913974	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	990204	129913974	5620773	192	8135											
TCERG1L	256536	broad.mit.edu	37	chr10	132915167	132915167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctctctctttgcctcCtctggcttgggactcccgca	8	16	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:132915167C>T	ENST00000368642.4	-	9	1375	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	430										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCTTTGCCTCCTCTGGCTTGG	0.582																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1288-1290)gaG>gaA		transcription elongation regulator 1-like							101	81	88					10																	132915167		2203	4297	6500	SO:0001819	synonymous_variant	256536							g.chr10:132915167C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1290G>A	10.37:g.132915167C>T							p.E430E	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	9	1375	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	430					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.1290G>A	CCDS7662.2																																																																																				0.582	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		27	68	0	0	0	1	0	27	68					T	132915167	C	T	132915167	2	4	66	1	0	0	0	0	0	0	0	1	15738	680	24	2		2	TCERG1L	10	132915167	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3001193	132915167	2619580	193	8136											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	617						7	617	---	---	---	---	-	6891255	TTC	-	6891253	7	5	66	1	0	1	0	1	0	0	0	0	10932	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-HV-A7OP-01A-11D-A33T-08		6891253	128115263	194	8137											
MICALCL	84953	broad.mit.edu	37	chr11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC													cacctccctgcgccaggcagINSctcctcctcctcctcctcct					rs3841216|rs573537447		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)gct>gCTCct	p.470_471insP		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.		T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCGCCAGGCAGctcctcctcct	0.604																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1366-1368)tcc>CTCtcc		MICAL C-terminal like																																				SO:0001652	inframe_insertion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316344_12316345insCTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1408dupCTC	11.37:g.12316351_12316353dupCTC	ENSP00000256186:p.Pro470_Pro470dup						p.455_456insL	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1657_1658	+			455					Q7RTP7|Q96JU6	In_Frame_Ins	INS	ENST00000256186.2	37	c.1366_1367insCTC	CCDS41620.1																																																																																				0.604	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	137						8	137	---	---	---	---	CTC	12316345	-	CTC	12316344	7	5	66	1	0	1	1	0	0	0	0	0	9613	971	34	0	1372	0	MICALCL	11	12316344	In_Frame_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	5425091	12316344	122690172	195	8138											
KCNC1	3746	broad.mit.edu	37	chr11	17794108	17794108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagagtgacacatgtccGctggcccaggaagaaatttt	10	10	1	3	rs370905066		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:17794108G>A	ENST00000379472.3	+	2	1497	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	KCNC1_ENST00000265969.6_Silent_p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	489					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACACATGTCCGCTGGCCCAGG	0.478																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1465-1467)ccG>ccA		potassium voltage-gated channel, Shaw-related subfamily, member 1		G	,	0,4400		0,0,2200	53	58	56		1467,1467	5.2	1	11		56	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous	KCNC1	NM_001112741.1,NM_004976.4	,	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	,	489/586,489/512	17794108	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794108G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1467G>A	11.37:g.17794108G>A						KCNC1_ENST00000265969.6_Silent_p.P489P	p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1497	+			489					K4DI87	Silent	SNP	ENST00000379472.3	37	c.1467G>A	CCDS7827.1																																																																																				0.478	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		5	376	0	0	0	1	0	5	376					A	17794108	G	A	17794108	2	1	66	1	0	0	0	0	0	0	0	1	8044	1074	38	1		1	KCNC1	11	17794108	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5477764	17794108	117212408	196	8139											
EHF	26298	broad.mit.edu	37	chr11	34668171	34668172	+	Frame_Shift_Ins	INS	-	-	G													gagtttgcaggagttcacccINSgggcggcagggacggcgggg					rs373708938|rs369404357		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:34668171_34668172insG	ENST00000533754.1	+	3	500_501	c.283_284insG	c.(283-285)cggfs	p.R95fs	EHF_ENST00000530286.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000450654.2_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.R117fs|EHF_ENST00000257831.3_Frame_Shift_Ins_p.R95fs					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGTTCACCCGGGCGGCAGGG	0.574																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(283-285)ggcfs		ets homologous factor																																				SO:0001589	frameshift_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668171_34668172insG	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.286dupG	11.37:g.34668174_34668174dupG	ENSP00000435837:p.Arg95fs					EHF_ENST00000450654.2_Frame_Shift_Ins_p.G95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.G117fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000533754.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.G95fs	p.G95fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	404_405	+		all_hematologic(20;0.117)	95			PNT.			Frame_Shift_Ins	INS	ENST00000533754.1	37	c.283_284insG	CCDS7894.1																																																																																				0.574	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		501	446						501	446	---	---	---	---	G	34668172	-	G	34668171	7	5	66	1	0	1	1	0	0	0	0	0	4997	643	23	0	289	0	EHF	11	34668171	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	16874063	34668171	100338345	197	8140											
OR5L1	219437	broad.mit.edu	37	chr11	55579038	55579038	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttcctgctgttcctTctcatctatggagtcacgtt	7	13	4	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:55579038T>A	ENST00000333973.2	+	1	185	c.96T>A	c.(94-96)ctT>ctA	p.L32L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGTTCCTTCTCATCTATG	0.512																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(94-96)ctT>ctA		olfactory receptor, family 5, subfamily L, member 1							263	237	246					11																	55579038		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579038T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.96T>A	11.37:g.55579038T>A							p.L32L	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	185	+		all_epithelial(135;0.208)	32					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.96T>A	CCDS31509.1																																																																																				0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		90	869	0	0	0	1	0	90	869					A	55579038	T	A	55579038	2	1	66	1	0	0	0	0	0	0	0	1	11212	1770	62	5		5	OR5L1	11	55579038	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	20910867	55579038	79427478	198	8141											
TMX2	51075	broad.mit.edu	37	chr11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggcaaggaggcaatgCggcggccacagattgacaag	16	8	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000388857.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125	114	118					11																	57506679		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp					TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	p.R231W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			7	703	+			231			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.691C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG		0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		5	578	0	0	0	1	0	5	578					T	57506679	C	T	57506679	3	4	66	1	0	0	0	0	1	0	0	0	16319	759	27	1	717	1	TMX2	11	57506679	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1927641	57506679	77499837	199	8142											
NRXN2	9379	broad.mit.edu	37	chr11	64428311	64428311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacagacgcccccattgCgacagggggcagatgcacac	12	15	0	2	rs373695786		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64428311C>T	ENST00000377551.1	-	9	2310	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669H|NRXN2_ENST00000265459.6_Missense_Mutation_p.R700H|NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	700	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCCATTGCGACAGGGGGC	0.647																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2098-2100)cGc>cAc		neurexin 2		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	72	70	71		2099,2006	4.4	1	11		71	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	700/1713,669/1643	64428311	1,12995	2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64428311C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2099G>A	11.37:g.64428311C>T	ENSP00000366774:p.Arg700His					NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669H|NRXN2_ENST00000377551.1_Missense_Mutation_p.R700H	p.R700H	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			10	2560	-			700			EGF-like 2.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2099G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141704	0.37825	0.0	1.16E-4	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.148030	0.27636	U	0.018492	T	0.50257	0.1605	N	0.13003	0.285	0.35368	D	0.788822	B;B;D	0.61080	0.046;0.071;0.989	B;B;P	0.47162	0.013;0.018;0.54	T	0.62784	-0.6781	10	0.40728	T	0.16	.	14.4926	0.67663	0.0:1.0:0.0:0.0	.	669;700;446	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	H	700;669;700;669;693	ENSP00000366774:R700H;ENSP00000366782:R669H;ENSP00000265459:R700H;ENSP00000386416:R693H	ENSP00000265459:R700H	R	-	2	0	NRXN2	64184887	0.000000	0.05858	0.998000	0.56505	0.811000	0.45836	0.031000	0.13710	2.266000	0.75297	0.555000	0.69702	CGC		0.647	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	292	0	0	0	1	0	6	292					T	64428311	C	T	64428311	3	4	66	1	0	0	0	0	1	0	0	0	10708	768	27	1	3364	1	NRXN2	11	64428311	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6921632	64428311	70578205	200	8143											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595249	64595249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgtcaggtagggggccGcataccctgcgggcacgcca	14	14	1	0	rs201898811		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64595249G>A	ENST00000342711.5	-	31	3973	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GTAGGGGGCCGCATACCCTGC	0.602																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3973-3975)gCg>gTg		CDC42 binding protein kinase gamma (DMPK-like)							79	67	71					11																	64595249		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595249G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3974C>T	11.37:g.64595249G>A	ENSP00000345133:p.Ala1325Val						p.A1325V	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			31	3973	-			1325			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.3974C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.620063	0.28801	.	.	ENSG00000171219	ENST00000342711	T	0.04758	3.56	4.8	4.8	0.61643	Citron-like (2);	0.355464	0.20396	N	0.093156	T	0.05777	0.0151	L	0.44542	1.39	0.24273	N	0.995235	P	0.41475	0.751	B	0.38106	0.265	T	0.41538	-0.9503	10	0.15952	T	0.53	.	15.7563	0.78030	0.0:0.0:1.0:0.0	.	1325	Q6DT37	MRCKG_HUMAN	V	1325	ENSP00000345133:A1325V	ENSP00000345133:A1325V	A	-	2	0	CDC42BPG	64351825	0.460000	0.25776	0.964000	0.40570	0.774000	0.43823	1.409000	0.34680	2.398000	0.81561	0.462000	0.41574	GCG		0.602	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	177	0	0	0	1	0	4	177					A	64595249	G	A	64595249	3	1	66	1	0	0	0	0	1	0	0	0	3083	1087	38	1	709	1	CDC42BPG	11	64595249	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	166938	64595249	70411267	201	8144											
TIGD3	220359	broad.mit.edu	37	chr11	65123359	65123368	+	Frame_Shift_Del	DEL	CCAAGATGTC	CCAAGATGTC	-													gctggaactcctggatgagtCcaagatgtcccagtcggagg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:65123359_65123368delCCAAGATGTC	ENST00000309880.5	+	2	287_296	c.80_89delCCAAGATGTC	c.(79-90)tccaagatgtccfs	p.SKMS27fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	27	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGATGAGTCCAAGATGTCCCAGTCGGAG	0.619																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(79-90)tcfs		tigger transposable element derived 3																																				SO:0001589	frameshift_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123359_65123368delCCAAGATGTC		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.80_89delCCAAGATGTC	11.37:g.65123359_65123368delCCAAGATGTC	ENSP00000308354:p.Ser27fs						p.SKMS27fs	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	287_296	+			27			HTH psq-type.			Frame_Shift_Del	DEL	ENST00000309880.5	37	c.80_89delCCAAGATGTC	CCDS8101.1																																																																																				0.619	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		20	413						20	413	---	---	---	---	-	65123368	CCAAGATGTC	-	65123359	7	5	66	1	0	1	0	1	0	0	0	0	15949	855	30	0	82	0	TIGD3	11	65123359	Frame_Shift_Del	DEL	CCAAGATGTC	TCGA-HV-A7OP-01A-11D-A33T-08	528110	65123359	69883157	202	8145											
ANO1	55107	broad.mit.edu	37	chr11	69972275	69972275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtcttcctgtacggatgCgccaccatggatgaaaacat	9	10	1	1	rs570844488		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:69972275C>T	ENST00000355303.5	+	10	1376	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000531349.1_Silent_p.C92C|ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	357					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGTACGGATGCGCCACCATGG	0.602																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1069-1071)tgC>tgT		anoctamin 1, calcium activated chloride channel							75	79	78					11																	69972275		2070	4203	6273	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69972275C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1071C>T	11.37:g.69972275C>T						ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C|ANO1_ENST00000531349.1_Silent_p.C92C	p.C357C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			10	1376	+			357					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1071C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715390	0.03206	.	.	ENSG00000131620	ENST00000530480	.	.	.	5.15	-7.75	0.01236	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	.	10.2927	0.43605	0.0:0.1776:0.187:0.6354	.	.	.	.	V	222	.	.	A	+	2	0	ANO1	69649923	0.322000	0.24634	0.410000	0.26471	0.220000	0.24768	-0.486000	0.06513	-1.962000	0.01014	-2.893000	0.00094	GCG		0.602	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		4	227	0	0	0	1	0	4	227					T	69972275	C	T	69972275	2	4	66	1	0	0	0	0	0	0	0	1	695	776	27	1		1	ANO1	11	69972275	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4848916	69972275	65034241	203	8146											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-													gtggctccggctgtgggggcTgtggctctggctgtggggga					rs554986629|rs201675734|rs572895813	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)tgtggctctggctgtgggggadel	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(70-90)del		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.70_90delTGTGGCTCTGGCTGTGGGGGA	11.37:g.71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENSP00000417330:p.Cys24_Gly30del						p.CGSGCGG24del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	104_124	+			24					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.70_90delTGTGGCTCTGGCTGTGGGGGA	CCDS41682.1																																																																																				0.665	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			7	1256						7	1256	---	---	---	---	-	71238436	TGTGGCTCTGGCTGTGGGGGA	-	71238416	7	5	66	1	0	1	0	1	0	0	0	0	8597	1580	55	0	72	0	KRTAP5-7	11	71238416	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TCGA-HV-A7OP-01A-11D-A33T-08	1266141	71238416	63768100	204	8147											
GRIA4	2893	broad.mit.edu	37	chr11	105483022	105483022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtctcttcatccgaaaCacagatcaggaatacactgc	9	11	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:105483022C>T	ENST00000530497.1	+	2	108	c.108C>T	c.(106-108)aaC>aaT	p.N36N	GRIA4_ENST00000393127.2_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	36					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCATCCGAAACACAGATCAGG	0.418																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(106-108)aaC>aaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						134	116	122					11																	105483022		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483022C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.108C>T	11.37:g.105483022C>T						GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000530497.1_Silent_p.N36N	p.N36N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	554	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	36					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.108C>T	CCDS8333.1																																																																																				0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			20	315	0	0	0	1	0	20	315					T	105483022	C	T	105483022	2	4	66	1	0	0	0	0	0	0	0	1	6800	477	17	2		2	GRIA4	11	105483022	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	34244606	105483022	29523494	205	8148											
BCL9L	283149	broad.mit.edu	37	chr11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-													caggcacttcatgctccagcGgggggccccctaggctctgt					rs147951163	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50	62	58			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	851						7	851	---	---	---	---	-	118773004	G	-	118773004	7	5	66	1	0	1	0	1	0	0	0	0	1383	1116	39	0	3063	0	BCL9L	11	118773004	Frame_Shift_Del	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	13289982	118773004	16233512	206	8149											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		16	254	0	0	0	1	0	16	254					C	3649787	T	C	3649787	3	2	66	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08		3649787	130202108	207	8150											
C1R	715	broad.mit.edu	37	chr12	7241475	7241475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccccggctgtccccCgactcatctgtgaagaacag	9	16	2	2	rs570489350		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:7241475C>T	ENST00000542285.1	-	6	1022	c.873G>A	c.(871-873)tcG>tcA	p.S291S	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	292	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCTGTCCCCCGACTCATCTG	0.607																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(871-873)tcG>tcA		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						19	21	20					12																	7241475		1914	4113	6027	SO:0001819	synonymous_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241475C>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.873G>A	12.37:g.7241475C>T							p.S291S			P00736	C1R_HUMAN			6	1022	-			292			CUB 2.		A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37	c.873G>A																																																																																					0.607	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		10	50	0	0	0	1	0	10	50					T	7241475	C	T	7241475	2	4	66	1	0	0	0	0	0	0	0	1	1979	639	23	1		1	C1R	12	7241475	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3591688	7241475	126610420	208	8151											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		59	16	0	0	0	1	0	59	16					T	25398284	C	T	25398284	3	4	66	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	18156809	25398284	108453611	209	8152											
ALG10B	144245	broad.mit.edu	37	chr12	38714204	38714204	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggaatgtcattgcacaaaAgttaactgaggcttggaaaa	11	5	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:38714204A>T	ENST00000308742.4	+	3	927	c.611A>T	c.(610-612)aAg>aTg	p.K204M	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	204					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)			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)				ATTGCACAAAAGTTAACTGAG	0.388																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(610-612)aAg>aTg		ALG10B, alpha-1,2-glucosyltransferase							158	160	159					12																	38714204		2203	4299	6502	SO:0001583	missense	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.chr12:38714204A>T	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.611A>T	12.37:g.38714204A>T	ENSP00000310120:p.Lys204Met					ALG10B_ENST00000551464.1_Intron	p.K204M	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	927	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	204					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.611A>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	8.765	0.924554	0.18056	.	.	ENSG00000175548	ENST00000308742	T	0.57436	0.4	3.24	2.04	0.26737	.	0.095913	0.64402	D	0.000001	T	0.40767	0.1130	L	0.45285	1.41	0.41659	D	0.989174	P	0.35527	0.507	B	0.37550	0.253	T	0.13764	-1.0497	10	0.31617	T	0.26	.	7.0859	0.25257	0.8831:0.0:0.1169:0.0	.	204	Q5I7T1	AG10B_HUMAN	M	204	ENSP00000310120:K204M	ENSP00000310120:K204M	K	+	2	0	ALG10B	37000471	1.000000	0.71417	0.004000	0.12327	0.540000	0.34992	4.001000	0.57046	0.595000	0.29777	0.448000	0.29417	AAG		0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		172	471	0	0	0	1	0	172	471					T	38714204	A	T	38714204	3	4	66	1	0	0	0	0	1	0	0	0	512	72	3	5	621	5	ALG10B	12	38714204	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	13315920	38714204	95137691	210	8153											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc					rs368789621		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:57860075delG	ENST00000228682.2	+	8	906	c.815delG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)tgfs		GLI family zinc finger 1							128	124	126					12																	57860075		2203	4300	6503	SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860075delG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.815delG	12.37:g.57860075delG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs	p.W272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	ENST00000228682.2	37	c.815delG	CCDS8940.1																																																																																				0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		7	507						7	507	---	---	---	---	-	57860075	G	-	57860075	7	5	66	1	0	1	0	1	0	0	0	0	6466	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	19145871	57860075	75991820	211	8154											
AGAP2	100130776	broad.mit.edu	37	chr12	58121196	58121196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgtcgctttcccacacGcggttggccgtgtcgttgcc	13	15	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58121196G>A	ENST00000542466.2	+	2	557	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Silent_p.R653R|AGAP2_ENST00000547588.1_Silent_p.R1009R					AGAP2 antisense RNA 1																		TTTCCCACACGCGGTTGGCCG	0.672																																						ENST00000542466.2																			0											c.(421-423)Gcg>Acg									57	47	50					12																	58121196		2203	4299	6502	SO:0001583	missense	0							g.chr12:58121196G>A	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"Long non-coding RNAs"	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.421G>A	12.37:g.58121196G>A	ENSP00000437523:p.Ala141Thr					AGAP2_ENST00000257897.3_Silent_p.R653R|AGAP2_ENST00000547588.1_Silent_p.R1009R	p.A141T							2	557	+									Missense_Mutation	SNP	ENST00000542466.2	37	c.421G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233844|3.233844	0.58886|0.58886	.|.	.|.	ENSG00000255737|ENSG00000135439	ENST00000542466|ENST00000328568	.|T	.|0.46451	.|0.87	5.0|5.0	2.18|2.18	0.27775|0.27775	.|.	.|0.269566	.|0.41823	.|D	.|0.000819	T|T	0.51143|0.51143	0.1657|0.1657	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.26614|.	0.071|.	T|T	0.50346|0.50346	-0.8839|-0.8839	7|7	0.87932|0.72032	D|D	0|0.01	.|.	9.7483|9.7483	0.40459|0.40459	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	141|.	B7Z718|.	.|.	T|C	141|853	.|ENSP00000328160:R853C	ENSP00000437523:A141T|ENSP00000328160:R853C	A|R	+|-	1|1	0|0	RP11-571M6.6|AGAP2	56407463|56407463	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.232000|1.232000	0.32636|0.32636	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.672	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1			56	9	0	0	0	1	0	56	9					A	58121196	G	A	58121196	3	1	66	1	0	0	0	0	1	0	0	0	368	1074	38	1	563	1	AGAP2	12	58121196	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	261121	58121196	75730699	212	8155											
CYP27B1	1594	broad.mit.edu	37	chr12	58158695	58158695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcctctgcctctcgccgctCcacgtgcctctgagctgcgt	10	18	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58158695C>G	ENST00000228606.4	-	5	1014	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	269					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCTCGCCGCTCCACGTGCCTC	0.607																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(805-807)Gag>Cag		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						74	71	72					12																	58158695		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158695C>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.805G>C	12.37:g.58158695C>G	ENSP00000228606:p.Glu269Gln						p.E269Q	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	1014	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		269					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.805G>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335080	0.60853	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70399	-0.48;-0.48	4.65	3.76	0.43208	.	0.052937	0.64402	D	0.000001	T	0.56819	0.2011	N	0.04959	-0.14	0.42532	D	0.993044	B	0.29188	0.236	P	0.45276	0.475	T	0.51116	-0.8746	10	0.17369	T	0.5	.	10.0556	0.42244	0.0:0.9043:0.0:0.0957	.	269	O15528	CP27B_HUMAN	Q	269;34	ENSP00000228606:E269Q;ENSP00000449472:E34Q	ENSP00000228606:E269Q	E	-	1	0	CYP27B1	56444962	1.000000	0.71417	0.993000	0.49108	0.494000	0.33585	6.260000	0.72502	1.188000	0.43014	0.561000	0.74099	GAG		0.607	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		223	43	0	0	0	1	0	223	43					G	58158695	C	G	58158695	3	3	66	1	0	0	0	0	1	0	0	0	4170	864	30	5	741	5	CYP27B1	12	58158695	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	37499	58158695	75693200	213	8156											
POLR3B	55703	broad.mit.edu	37	chr12	106826185	106826185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaaattagccagtaacttGggagtagaagatgtgaattt	11	3	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:106826185G>A	ENST00000228347.4	+	15	1776	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	POLR3B_ENST00000539066.1_Silent_p.L460L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	518					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGTAACTTGGGAGTAGAAG	0.373																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1552-1554)ttG>ttA		polymerase (RNA) III (DNA directed) polypeptide B							228	216	220					12																	106826185		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106826185G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1554G>A	12.37:g.106826185G>A						POLR3B_ENST00000539066.1_Silent_p.L460L	p.L518L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			15	1776	+			518					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.1554G>A	CCDS9105.1																																																																																				0.373	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		65	329	0	0	0	1	0	65	329					A	106826185	G	A	106826185	2	1	66	1	0	0	0	0	0	0	0	1	12271	1339	47	2		2	POLR3B	12	106826185	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	48667490	106826185	27025710	214	8157											
HPD	3242	broad.mit.edu	37	chr12	122285009	122285009	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctcattgatgggcatcttGatggactcttcatagttggc	12	8	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:122285009G>A	ENST00000289004.4	-	10	743	c.708C>T	c.(706-708)atC>atT	p.I236I	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Silent_p.I197I	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	236					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGGGCATCTTGATGGACTCTT	0.592																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(589-591)atC>atT		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						146	138	141					12																	122285009		2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122285009G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.708C>T	12.37:g.122285009G>A						HPD_ENST00000289004.4_Silent_p.I236I|HPD_ENST00000543869.2_5'UTR	p.I197I	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1036	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		236					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.591C>T	CCDS9224.1																																																																																				0.592	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		101	323	0	0	0	1	0	101	323					A	122285009	G	A	122285009	2	1	66	1	0	0	0	0	0	0	0	1	7362	1280	45	2		2	HPD	12	122285009	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	15458824	122285009	11566886	215	8158											
TUBA3C	7278	broad.mit.edu	37	chr13	19752465	19752465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtaattattggccGcatcttccttcccggtgatc	9	13	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:19752465G>A	ENST00000400113.3	-	3	400	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTATTGGCCGCATCTTCCTT	0.522																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(295-297)gCg>gTg		tubulin, alpha 3c							200	168	178					13																	19752465		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752465G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.296C>T	13.37:g.19752465G>A	ENSP00000382982:p.Ala99Val						p.A99V	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	400	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	99					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.296C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174721	0.38413	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74002	-0.8	1.53	1.53	0.23141	.	0.000000	0.46758	U	0.000271	T	0.77698	0.4169	.	.	.	0.45718	D	0.998626	.	.	.	.	.	.	T	0.78838	-0.2046	7	0.87932	D	0	.	9.0464	0.36349	0.0:0.0:1.0:0.0	.	.	.	.	V	99	ENSP00000382982:A99V	ENSP00000354037:A99V	A	-	2	0	TUBA3C	18650465	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	7.934000	0.87649	1.161000	0.42604	0.423000	0.28283	GCG		0.522	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		7	923	0	0	0	1	0	7	923					A	19752465	G	A	19752465	3	1	66	1	0	0	0	0	1	0	0	0	16800	1087	38	1	1068	1	TUBA3C	13	19752465	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		19752465	95417413	216	8159											
TNFRSF19	55504	broad.mit.edu	37	chr13	24200926	24200926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcctccttacgaacCgcactgtgagtgaacgcaac	7	17	0	2	rs368876279		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:24200926C>T	ENST00000382258.4	+	5	644	c.440C>T	c.(439-441)cCg>cTg	p.P147L	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P147L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTTACGAACCGCACTGTGAG	0.463																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(439-441)cCg>cTg		tumor necrosis factor receptor superfamily, member 19		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	99	85	90		440,44,440,440	5.5	0.9	13		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/418,15/286,147/424,147/418	24200926	1,13005	2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200926C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.440C>T	13.37:g.24200926C>T	ENSP00000371693:p.Pro147Leu					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P147L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	p.P147L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	624	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	147					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.440C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474459	0.63737	0.0	1.16E-4	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.52	5.52	0.82312	.	0.049178	0.85682	D	0.000000	T	0.49321	0.1550	M	0.74881	2.28	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.978	T	0.43065	-0.9414	10	0.48119	T	0.1	-16.8742	19.0446	0.93015	0.0:1.0:0.0:0.0	.	15;147;147	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	147;15;147;147	ENSP00000248484:P147L;ENSP00000385408:P15L;ENSP00000371693:P147L;ENSP00000371698:P147L	ENSP00000248484:P147L	P	+	2	0	TNFRSF19	23098926	1.000000	0.71417	0.926000	0.36857	0.092000	0.18411	6.410000	0.73294	2.608000	0.88229	0.585000	0.79938	CCG		0.463	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		93	244	0	0	0	1	0	93	244					T	24200926	C	T	24200926	3	4	66	1	0	0	0	0	1	0	0	0	16344	652	23	1	454	1	TNFRSF19	13	24200926	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4448461	24200926	90968952	217	8160											
ATP8A2	51761	broad.mit.edu	37	chr13	26273464	26273464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatttggcactctcgtgcAaagcggtcatatgctgcagg	13	9	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:26273464A>G	ENST00000381655.2	+	25	2507	c.2365A>G	c.(2365-2367)Aaa>Gaa	p.K789E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	749					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTCGTGCAAAGCGGTCAT	0.532																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2365-2367)Aaa>Gaa		ATPase, aminophospholipid transporter, class I, type 8A, member 2							66	66	66					13																	26273464		1956	4143	6099	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273464A>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2365A>G	13.37:g.26273464A>G	ENSP00000371070:p.Lys789Glu					ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E	p.K789E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2507	+		Breast(139;0.0201)|Lung SC(185;0.0225)	749					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2365A>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608460	0.66558	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.84516	-1.86;-1.86	5.88	5.88	0.94601	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.64997	1.995	0.54753	D	0.999989	D;D;D	0.62365	0.976;0.97;0.991	D;P;D	0.68039	0.93;0.885;0.955	D	0.91720	0.5388	10	0.87932	D	0	.	16.2824	0.82697	1.0:0.0:0.0:0.0	.	749;569;749	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	E	789;749;569	ENSP00000371070:K789E;ENSP00000255283:K749E	ENSP00000255283:K749E	K	+	1	0	ATP8A2	25171464	1.000000	0.71417	0.241000	0.24154	0.172000	0.22775	9.334000	0.96470	2.250000	0.74265	0.533000	0.62120	AAA		0.532	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		14	288	0	0	0	1	0	14	288					G	26273464	A	G	26273464	3	3	66	1	0	0	0	0	1	0	0	0	1194	131	5	4	2463	4	ATP8A2	13	26273464	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	2072538	26273464	88896414	218	8161											
B3GALTL	145173	broad.mit.edu	37	chr13	31858882	31858882	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctactgtggatttgggaatTcctaatacagatagaggtga	11	6	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:31858882T>A	ENST00000343307.4	+	11	1097	c.948T>A	c.(946-948)atT>atA	p.I316I	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	316					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTGGGAATTCCTAATACAG	0.348																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(946-948)atT>atA		beta 1,3-galactosyltransferase-like							98	95	96					13																	31858882		2203	4300	6503	SO:0001819	synonymous_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31858882T>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.948T>A	13.37:g.31858882T>A						B3GALTL_ENST00000461652.2_3'UTR	p.I316I	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	11	1097	+		Lung SC(185;0.0257)	316					A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	c.948T>A	CCDS9341.1																																																																																				0.348	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		29	293	0	0	0	1	0	29	293					A	31858882	T	A	31858882	2	1	66	1	0	0	0	0	0	0	0	1	1253	1771	62	5		5	B3GALTL	13	31858882	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	5585418	31858882	83310996	219	8162											
NBEA	26960	broad.mit.edu	37	chr13	35733662	35733663	+	Frame_Shift_Ins	INS	-	-	A													atggaagtgttggtatcattINSaaaaaaaatgaagaaaagga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:35733662_35733663insA	ENST00000400445.3	+	22	3888_3889	c.3354_3355insA	c.(3355-3357)aaafs	p.K1119fs	NBEA_ENST00000379939.2_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000540320.1_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.K1119fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1119					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3352-3357)ataaaafs		neurobeachin																																				SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733662_35733663insA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3362dupA	13.37:g.35733670_35733670dupA	ENSP00000383295:p.Lys1119fs					NBEA_ENST00000310336.4_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000400445.3_Frame_Shift_Ins_p.IK1118fs	p.IK1118fs			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3888_3889	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1118					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	ENST00000400445.3	37	c.3354_3355insA	CCDS45026.1																																																																																				0.356	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	308						7	308	---	---	---	---	A	35733663	-	A	35733662	7	5	66	1	0	1	1	0	0	0	0	0	10228	1742	61	0	3440	0	NBEA	13	35733662	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	3874780	35733662	79436216	220	8163											
FREM2	341640	broad.mit.edu	37	chr13	39454821	39454821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcagtgctgatgtgcaGgggcaaggaaagtttcaggg	16	6	1	1	rs142012270		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:39454821G>A	ENST00000280481.7	+	24	9623	c.9407G>A	c.(9406-9408)aGg>aAg	p.R3136K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3136					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATGTGCAGGGGCAAGGAA	0.582																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(9406-9408)aGg>aAg		FRAS1 related extracellular matrix protein 2		G	LYS/ARG	0,4406		0,0,2203	61	60	60		9407	-1.5	0	13	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	FREM2	NM_207361.4	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3136/3170	39454821	1,13005	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39454821G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9407G>A	13.37:g.39454821G>A	ENSP00000280481:p.Arg3136Lys						p.R3136K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	24	9623	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	3136					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.9407G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688906	0.14973	0.0	1.16E-4	ENSG00000150893	ENST00000280481	T	0.17528	2.27	5.43	-1.55	0.08558	.	0.443522	0.26549	N	0.023741	T	0.07728	0.0194	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25916	-1.0118	10	0.35671	T	0.21	.	10.0903	0.42443	0.6461:0.0:0.3539:0.0	.	3136	Q5SZK8	FREM2_HUMAN	K	3136	ENSP00000280481:R3136K	ENSP00000280481:R3136K	R	+	2	0	FREM2	38352821	0.184000	0.23200	0.002000	0.10522	0.049000	0.14656	0.940000	0.28992	-0.516000	0.06470	-0.253000	0.11424	AGG		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		15	441	0	0	0	1	0	15	441					A	39454821	G	A	39454821	3	1	66	1	0	0	0	0	1	0	0	0	6072	1000	35	2	9501	2	FREM2	13	39454821	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3721159	39454821	75715057	221	8164											
KBTBD7	84078	broad.mit.edu	37	chr13	41767432	41767434	+	In_Frame_Del	DEL	CTG	CTG	-													caagagagttgctgctgctaCtgctgctgctgctgtttggc					rs552076358		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41767432_41767434delCTG	ENST00000379483.3	-	1	1268_1270	c.960_962delCAG	c.(958-963)agcagt>agt	p.320_321SS>S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	320										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		gctgctgctactgctgctgctgc	0.512																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(958-963)agt>ag		kelch repeat and BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	84078						protein binding	g.chr13:41767432_41767434delCTG	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.960_962delCAG	13.37:g.41767441_41767443delCTG	ENSP00000368797:p.Ser324del						p.SS322del	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1268_1270	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	322					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	In_Frame_Del	DEL	ENST00000379483.3	37	c.960_962delCAG	CCDS9377.1																																																																																				0.512	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		12	268						12	268	---	---	---	---	-	41767434	CTG	-	41767432	7	5	66	1	0	1	0	1	0	0	0	0	8028	565	20	0	1096	0	KBTBD7	13	41767432	In_Frame_Del	DEL	CTG	TCGA-HV-A7OP-01A-11D-A33T-08	2312611	41767432	73402446	222	8165											
AKAP11	11215	broad.mit.edu	37	chr13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacattatgcaattttgCgggtgatctggcagcagaag	12	6	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3778-3780)gCg>gTg		A kinase (PRKA) anchor protein 11							68	71	70					13																	42876661		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876661C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3779C>T	13.37:g.42876661C>T	ENSP00000025301:p.Ala1260Val						p.A1260V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3954	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1260					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3779C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523180	0.85600	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.76828	0.4042	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1260	Q9UKA4	AKA11_HUMAN	V	1260	ENSP00000025301:A1260V	ENSP00000025301:A1260V	A	+	2	0	AKAP11	41774661	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	GCG		0.368	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		6	864	0	0	0	1	0	6	864					T	42876661	C	T	42876661	3	4	66	1	0	0	0	0	1	0	0	0	447	768	27	1	3801	1	AKAP11	13	42876661	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1109229	42876661	72293217	223	8166											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		22	1059						22	1059	---	---	---	---	T	60582734	-	T	60582733	7	5	66	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	17706072	60582733	54587145	224	8167											
SLITRK6	84189	broad.mit.edu	37	chr13	86370131	86370131	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttggaggaagactctcaatAgcattgtcatttaaaattaa	7	5	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:86370131A>T	ENST00000400286.2	-	2	1111	c.513T>A	c.(511-513)gcT>gcA	p.A171A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	171					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GACTCTCAATAGCATTGTCAT	0.368																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(511-513)gcT>gcA		SLIT and NTRK-like family, member 6							129	121	124					13																	86370131		1864	4091	5955	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86370131A>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.513T>A	13.37:g.86370131A>T							p.A171A	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1111	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		171					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.513T>A	CCDS41903.1																																																																																				0.368	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		270	663	0	0	0	1	0	270	663					T	86370131	A	T	86370131	2	4	66	1	0	0	0	0	0	0	0	1	14797	407	15	5		5	SLITRK6	13	86370131	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	25787398	86370131	28799747	225	8168											
SLITRK5	26050	broad.mit.edu	37	chr13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-													tacagcagcaaccaccacctGcagcagcagcagcagccgcc					rs552694563	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctgcag>ctg	p.Q797del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.Q556del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	797					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCACCTgcagcagcagcag	0.655																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2374-2379)ctg>ct		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88330019_88330021delGCA	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2376_2378delGCA	13.37:g.88330028_88330030delGCA	ENSP00000366283:p.Gln797del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	p.LQ792del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2595_2597	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		792					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2376_2378delGCA	CCDS9465.1																																																																																				0.655	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	410						8	410	---	---	---	---	-	88330021	GCA	-	88330019	7	5	66	1	0	1	0	1	0	0	0	0	14796	1306	46	0	2378	0	SLITRK5	13	88330019	In_Frame_Del	DEL	GCA	TCGA-HV-A7OP-01A-11D-A33T-08	1959888	88330019	26839859	226	8169											
TPP2	7174	broad.mit.edu	37	chr13	103298740	103298740	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatataactttcatcaAgtaagtgtttgcctagtaaa	6	7	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:103298740A>C	ENST00000376065.4	+	20	2526	c.2490A>C	c.(2488-2490)caA>caC	p.Q830H	TPP2_ENST00000376052.3_Splice_Site_p.Q830H	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	830					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)			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)					ACTTTCATCAAGTAAGTGTTT	0.343																																						ENST00000376052.3																			0				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						c.e20+1		tripeptidyl peptidase II							101	90	94					13																	103298740		2203	4300	6503	SO:0001630	splice_region_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103298740A>C	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.2490+1A>C	13.37:g.103298740A>C						TPP2_ENST00000376065.4_Splice_Site_p.Q830_splice	p.Q830_splice			P29144	TPP2_HUMAN			20	2506	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		830					Q5VZU8	Splice_Site	SNP	ENST00000376065.4	37	c.2490_splice	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675990	0.67928	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.98	-0.152	0.13407	Peptidase S8A, tripeptidyl peptidase II (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.73672	-0.3909	9	0.72032	D	0.01	.	11.9267	0.52823	0.4853:0.0:0.5147:0.0	.	830	P29144	TPP2_HUMAN	H	830	.	ENSP00000365220:Q830H	Q	+	3	2	TPP2	102096741	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	0.595000	0.24029	-0.206000	0.10203	0.482000	0.46254	CAA		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		Missense_Mutation	78	166	0	0	0	1	0	78	166					C	103298740	A	C	103298740	5	2	66	1	0	0	0	0	0	0	1	0	16465	86	3	4	2568	4	TPP2	13	103298740	Splice_Site	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	14968721	103298740	11871138	227	8170											
PRKD1	5587	broad.mit.edu	37	chr14	30047559	30047559	+	Frame_Shift_Del	DEL	A	A	-													tgcagcaaattgttgataagAtcaatggctgaaaaaaatta							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:30047559delA	ENST00000331968.5	-	17	2671	c.2442delT	c.(2440-2442)gatfs	p.D814fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTGATAAGATCAATGGCTG	0.333																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2440-2442)gafs		protein kinase D1							66	65	65					14																	30047559		2203	4300	6503	SO:0001589	frameshift_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30047559delA		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2442delT	14.37:g.30047559delA	ENSP00000333568:p.Asp814fs					PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	p.D814fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	17	2671	-	Hepatocellular(127;0.0604)		814			Protein kinase.		A6NL64|B2RAF6	Frame_Shift_Del	DEL	ENST00000331968.5	37	c.2442delT	CCDS9637.1																																																																																				0.333	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		23	82						23	82	---	---	---	---	-	30047559	A	-	30047559	7	5	66	1	0	1	0	1	0	0	0	0	12565	330	12	0	304	0	PRKD1	14	30047559	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08		30047559	77301981	228	8171											
EGLN3	112399	broad.mit.edu	37	chr14	34419830	34419830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcttgacgcgctccagGacgcagtcgcccaccacctc	10	18	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:34419830G>A	ENST00000250457.3	-	1	457	c.129C>T	c.(127-129)gtC>gtT	p.V43V	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000547327.2_Silent_p.V43V	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CGCGCTCCAGGACGCAGTCGC	0.692																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(127-129)gtC>gtT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						39	45	43					14																	34419830		2202	4298	6500	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419830G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 3"	606426	"EGL nine (C.elegans) homolog 3", "egl nine homolog 3 (C. elegans)"				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.129C>T	14.37:g.34419830G>A						EGLN3_ENST00000250457.3_Silent_p.V43V|EGLN3_ENST00000553215.1_Intron	p.V43V			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	457	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		43					Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.129C>T	CCDS9646.1																																																																																				0.692	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			22	136	0	0	0	1	0	22	136					A	34419830	G	A	34419830	2	1	66	1	0	0	0	0	0	0	0	1	4986	1161	41	2		2	EGLN3	14	34419830	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4372271	34419830	72929710	229	8172											
SSTR1	6751	broad.mit.edu	37	chr14	38678919	38678919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgatgagctgctcatgCtcagcgtgcccttcctagtc	10	13	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:38678919C>A	ENST00000267377.2	+	3	942	c.325C>A	c.(325-327)Ctc>Atc	p.L109I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	109					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCTGCTCATGCTCAGCGTGCC	0.567																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(325-327)Ctc>Atc		somatostatin receptor 1	Octreotide(DB00104)						206	186	193					14																	38678919		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678919C>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.325C>A	14.37:g.38678919C>A	ENSP00000267377:p.Leu109Ile						p.L109I	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	942	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		109						Missense_Mutation	SNP	ENST00000267377.2	37	c.325C>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093515	0.56075	.	.	ENSG00000139874	ENST00000267377	T	0.41065	1.01	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.55847	0.1946	L	0.43701	1.375	0.52501	D	0.999953	D	0.56287	0.975	D	0.63877	0.919	T	0.58624	-0.7604	10	0.72032	D	0.01	.	17.0253	0.86444	0.0:1.0:0.0:0.0	.	109	P30872	SSR1_HUMAN	I	109	ENSP00000267377:L109I	ENSP00000267377:L109I	L	+	1	0	SSTR1	37748670	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.936000	0.40183	2.505000	0.84491	0.655000	0.94253	CTC		0.567	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			5	520	1	0	0.0293803	1	0.0295589	5	520					A	38678919	C	A	38678919	3	1	66	1	0	0	0	0	1	0	0	0	15249	797	28	3	327	3	SSTR1	14	38678919	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4259089	38678919	68670621	230	8173											
FBXO33	254170	broad.mit.edu	37	chr14	39871612	39871612	+	Frame_Shift_Del	DEL	T	T	-													ccatataacttactgtttaaTttttttgccatcagggtcca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:39871612delT	ENST00000298097.7	-	2	1040	c.703delA	c.(703-705)attfs	p.I235fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TACTGTTTAATTTTTTTGCCA	0.323																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(703-705)ttfs		F-box protein 33							102	94	97					14																	39871612		2203	4300	6503	SO:0001589	frameshift_variant	254170							g.chr14:39871612delT	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.703delA	14.37:g.39871612delT	ENSP00000298097:p.Ile235fs					FBXO33_ENST00000554190.1_Intron	p.I235fs	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	2	1040	-	Hepatocellular(127;0.213)		235					Q6PIR2|Q86TR2|Q86YE0	Frame_Shift_Del	DEL	ENST00000298097.7	37	c.703delA	CCDS9677.1																																																																																				0.323	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			7	184						7	184	---	---	---	---	-	39871612	T	-	39871612	7	5	66	1	0	1	0	1	0	0	0	0	5768	1493	52	0	976	0	FBXO33	14	39871612	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	1192693	39871612	67477928	231	8174											
C14orf105	55195	broad.mit.edu	37	chr14	57938236	57938237	+	Frame_Shift_Ins	INS	-	-	T													ttcatgaagccatgtttccaINSttttgccaattttccaggga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:57938236_57938237insT	ENST00000216445.3	-	6	863_864	c.727_728insA	c.(727-729)atgfs	p.M243fs	C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.M242fs|C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.M283fs	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	243										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCATGTTTCCATTTTGCCAATT	0.396																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(727-729)ggafs		chromosome 14 open reading frame 105																																				SO:0001589	frameshift_variant	55195							g.chr14:57938236_57938237insT	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.728dupA	14.37:g.57938240_57938240dupT	ENSP00000216445:p.Met243fs					C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.G283fs|C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.G242fs	p.G243fs	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			6	863_864	-			243					Q53G04	Frame_Shift_Ins	INS	ENST00000216445.3	37	c.727_728insA	CCDS9730.1																																																																																				0.396	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		76	25						76	25	---	---	---	---	T	57938237	-	T	57938236	7	5	66	1	0	1	1	0	0	0	0	0	1742	217	8	0	166	0	C14orf105	14	57938236	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	18066624	57938236	49411304	232	8175											
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttcttcatcaacaccGaaagggacgatgactatgct	8	12	3	1	rs566389840		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205	208	207					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		6	755	0	0	0	1	0	6	755					A	39885651	G	A	39885651	3	1	66	1	0	0	0	0	1	0	0	0	15905	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		39885651	62645741	233	8176											
PLCB2	5330	broad.mit.edu	37	chr15	40591062	40591062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcacctggtcaggccGtgctggcgggaacagcaggg	17	13	1	0	rs201878648		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:40591062G>A	ENST00000260402.3	-	9	1036	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	263					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGTCAGGCCGTGCTGGCGGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22310	0.001		0.0	False		,,,				2504	0.0					ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(787-789)Cgg>Tgg		phospholipase C, beta 2							71	79	76					15																	40591062		2036	4181	6217	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591062G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.787C>T	15.37:g.40591062G>A	ENSP00000260402:p.Arg263Trp					PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W|PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W	p.R263W	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	1036	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	263					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.787C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569821	0.65765	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.44083	0.93;0.93	4.23	4.23	0.50019	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.184362	0.43416	D	0.000566	T	0.54515	0.1863	L	0.53249	1.67	0.25021	N	0.99133	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.66497	0.825;0.944;0.783	T	0.45934	-0.9227	10	0.87932	D	0	.	10.3919	0.44175	0.0:0.0:0.6601:0.3399	.	263;263;263	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	W	263	ENSP00000260402:R263W;ENSP00000411991:R263W	ENSP00000260402:R263W	R	-	1	2	PLCB2	38378354	1.000000	0.71417	0.897000	0.35233	0.995000	0.86356	3.917000	0.56424	2.350000	0.79820	0.561000	0.74099	CGG		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			22	248	0	0	0	1	0	22	248					A	40591062	G	A	40591062	3	1	66	1	0	0	0	0	1	0	0	0	12070	1144	40	1	2866	1	PLCB2	15	40591062	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	705411	40591062	61940330	234	8177											
FAM82A2	55177	broad.mit.edu	37	chr15	41043687	41043687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgtgaagtagacagagctgGagccagtggagtcactcctc	13	11	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:41043687G>T	ENST00000260385.6	-	3	1528	c.461C>A	c.(460-462)tCc>tAc	p.S154Y	RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	154					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GACAGAGCTGGAGCCAGTGGA	0.587																																						ENST00000260385.6																			0											c.(460-462)tCc>tAc		regulator of microtubule dynamics 3							87	87	87					15																	41043687		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41043687G>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.461C>A	15.37:g.41043687G>T	ENSP00000260385:p.Ser154Tyr					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y	p.S154Y							3	1528	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.461C>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557716	0.86231	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.71581	2.175	0.51482	D	0.999929	D	0.89917	1.0	D	0.70935	0.971	T	0.68303	-0.5444	10	0.72032	D	0.01	-10.391	18.4611	0.90738	0.0:0.0:1.0:0.0	.	154	Q96TC7	RMD3_HUMAN	Y	154;154;91	ENSP00000260385:S154Y;ENSP00000342493:S154Y	ENSP00000260385:S154Y	S	-	2	0	FAM82A2	38830979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.457000	0.83068	0.555000	0.69702	TCC		0.587	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		351	68	1	0	5.12724e-156	1	5.69502e-156	351	68					T	41043687	G	T	41043687	3	4	66	1	0	0	0	0	1	0	0	0	5656	1174	41	3	991	3	FAM82A2	15	41043687	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	452625	41043687	61487705	235	8178											
SMAD3	4088	broad.mit.edu	37	chr15	67482873	67482873	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgttccagtgtgtcttAgagacatcaagtatggtagg	12	8	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:67482873A>T	ENST00000327367.4	+	9	1587	c.1277A>T	c.(1276-1278)tAg>tTg	p.*426L	SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGTGTGTCTTAGAGACATCAA	0.537																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1276-1278)tAg>tTg		SMAD family member 3							51	44	46					15																	67482873		2201	4299	6500	SO:0001578	stop_lost	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67482873A>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1277A>T	15.37:g.67482873A>T	ENSP00000332973:p.*426Leuext*6					SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	p.*426L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	9	1587	+			0					A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonstop_Mutation	SNP	ENST00000327367.4	37	c.1277A>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119602	0.77323	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.22171	N	0.999318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6743	0.68967	1.0:0.0:0.0:0.0	.	.	.	.	L	426;426;321;382;231	.	.	X	+	2	0	SMAD3	65269927	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	9.224000	0.95209	1.880000	0.54463	0.459000	0.35465	TAG		0.537	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		89	23	0	0	0	1	0	89	23					T	67482873	A	T	67482873	4	4	66	1	0	0	0	0	0	0	0	0	14809	433	15	5	1389	5	SMAD3	15	67482873	Nonstop_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	26439186	67482873	35048519	236	8179											
SIN3A	25942	broad.mit.edu	37	chr15	75664478	75664478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccatttcacggggcaCatgctccttggtccatttat	9	12	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:75664478C>T	ENST00000394947.3	-	21	3978	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCACGGGGCACATGCTCCTTG	0.517																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(3664-3666)Gtg>Atg		SIN3 transcription regulator family member A							137	131	133					15																	75664478		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75664478C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3664G>A	15.37:g.75664478C>T	ENSP00000378402:p.Val1222Met					SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M	p.V1222M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			21	3978	-			1222						Missense_Mutation	SNP	ENST00000394947.3	37	c.3664G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402483	0.83230	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.55234	0.53;0.53;0.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78669	-0.2114	10	0.72032	D	0.01	-13.68	17.6621	0.88195	0.0:1.0:0.0:0.0	.	1222	Q96ST3	SIN3A_HUMAN	M	1222	ENSP00000378402:V1222M;ENSP00000378403:V1222M;ENSP00000353622:V1222M	ENSP00000353622:V1222M	V	-	1	0	SIN3A	73451531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.419000	0.82065	0.491000	0.48974	GTG		0.517	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		50	318	0	0	0	1	0	50	318					T	75664478	C	T	75664478	3	4	66	1	0	0	0	0	1	0	0	0	14375	478	17	2	161	2	SIN3A	15	75664478	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	8181605	75664478	26866914	237	8180											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84659900	84659900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcacaaccatctgtctGttgtggttggaggcatcgtg	13	9	2	1	rs181714834	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84659900G>T	ENST00000286744.5	+	23	4131	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F|AC027807.1_ENST00000408557.1_RNA	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1303	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATCTGTCTGTTGTGGTTGG	0.468																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(3907-3909)Gtt>Ttt		ADAMTS-like 3							255	233	241					15																	84659900		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84659900G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3907G>T	15.37:g.84659900G>T	ENSP00000286744:p.Val1303Phe					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F	p.V1303F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		23	4131	+			1303			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3907G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843177	0.16963	.	.	ENSG00000156218	ENST00000286744	T	0.68025	-0.3	5.34	2.3	0.28687	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521289	0.14289	N	0.329059	T	0.71962	0.3402	M	0.72118	2.19	0.09310	N	1	P;P	0.41313	0.745;0.664	P;B	0.51266	0.664;0.168	T	0.62562	-0.6828	10	0.72032	D	0.01	.	7.3249	0.26549	0.2092:0.1221:0.6686:0.0	.	1303;1303	P82987-2;P82987	.;ATL3_HUMAN	F	1303	ENSP00000286744:V1303F	ENSP00000286744:V1303F	V	+	1	0	ADAMTSL3	82450904	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.126000	0.15769	0.638000	0.30545	-0.140000	0.14226	GTT		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		7	708	1	0	0.248553	1	0.249306	7	708					T	84659900	G	T	84659900	3	4	66	1	0	0	0	0	1	0	0	0	276	1377	48	3	3993	3	ADAMTSL3	15	84659900	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8995422	84659900	17871492	238	8181											
ATXN2L	11273	broad.mit.edu	37	chr16	28847356	28847356	+	Frame_Shift_Del	DEL	C	C	-													caccccagagtcatggggggCccccccaaggcgcggtgccc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:28847356delC	ENST00000336783.4	+	22	3165	c.2998delC	c.(2998-3000)cccfs	p.P1001fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1001					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCATGGGGGGCCCCCCCAAGG	0.687																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2998-3000)ccfs		ataxin 2-like							30	40	37					16																	28847356		2145	4238	6383	SO:0001589	frameshift_variant	11273					membrane		g.chr16:28847356delC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2998delC	16.37:g.28847356delC	ENSP00000338718:p.Pro1001fs					RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs	p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3165	+			1001					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	c.2998delC	CCDS10641.1																																																																																				0.687	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		7	634						7	634	---	---	---	---	-	28847356	C	-	28847356	7	5	66	1	0	1	0	1	0	0	0	0	1213	739	26	0	3084	0	ATXN2L	16	28847356	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08		28847356	61507397	239	8182											
MVP	9961	broad.mit.edu	37	chr16	29848107	29848107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgtcccgccgcactgGggaggagtggctggtaacag	19	9	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:29848107G>T	ENST00000357402.5	+	7	875	c.737G>T	c.(736-738)gGg>gTg	p.G246V	MVP_ENST00000452209.2_Missense_Mutation_p.W60C|MVP_ENST00000395353.1_Missense_Mutation_p.G246V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	246					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCCGCACTGGGGAGGAGTGG	0.647																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(736-738)gGg>gTg		major vault protein							46	46	46					16																	29848107		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29848107G>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.737G>T	16.37:g.29848107G>T	ENSP00000349977:p.Gly246Val					MVP_ENST00000452209.2_Missense_Mutation_p.W60C|MVP_ENST00000395353.1_Missense_Mutation_p.G246V	p.G246V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			7	875	+			246					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.737G>T	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.845998|2.845998	0.51164|0.51164	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|T	0.50277|0.64991	0.75;0.75|-0.13	5.47|5.47	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81331|0.81331	0.4800|0.4800	M|M	0.92833|0.92833	3.35|3.35	0.50039|0.50039	D|D	0.999845|0.999845	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	D|D	0.85667|0.85667	0.1292|0.1292	10|7	0.87932|0.87932	D|D	0|0	-13.119|-13.119	12.5533|12.5533	0.56240|0.56240	0.0817:0.0:0.9183:0.0|0.0817:0.0:0.9183:0.0	.|.	246|.	Q14764|.	MVP_HUMAN|.	V|C	246|60	ENSP00000349977:G246V;ENSP00000378760:G246V|ENSP00000387916:W60C	ENSP00000349977:G246V|ENSP00000387916:W60C	G|W	+|+	2|3	0|0	MVP|MVP	29755608|29755608	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	7.661000|7.661000	0.83786|0.83786	1.435000|1.435000	0.47434|0.47434	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.647	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		21	262	1	0	2.39556e-15	1	2.56612e-15	21	262					T	29848107	G	T	29848107	3	4	66	1	0	0	0	0	1	0	0	0	10037	1232	43	3	759	3	MVP	16	29848107	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1000751	29848107	60506646	240	8183											
CHD9	80205	broad.mit.edu	37	chr16	53260337	53260337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagatatagaagggaaGcaatctgaagaagaggttaa	13	3	1	6			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:53260337G>T	ENST00000398510.3	+	4	2043	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	CHD9_ENST00000566029.1_Missense_Mutation_p.K652N|CHD9_ENST00000447540.1_Missense_Mutation_p.K652N|CHD9_ENST00000564845.1_Missense_Mutation_p.K652N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	652	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAGAAGGGAAGCAATCTGAAG	0.299																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1954-1956)aaG>aaT		chromodomain helicase DNA binding protein 9							82	81	81					16																	53260337		1794	4065	5859	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260337G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1956G>T	16.37:g.53260337G>T	ENSP00000381522:p.Lys652Asn					CHD9_ENST00000398510.3_Missense_Mutation_p.K652N|CHD9_ENST00000564845.1_Missense_Mutation_p.K652N|CHD9_ENST00000447540.1_Missense_Mutation_p.K652N	p.K652N			Q3L8U1	CHD9_HUMAN			5	2165	+		all_cancers(37;0.0212)	652			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1956G>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922549	0.52653	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.65549	-0.16;-0.16	5.39	-1.02	0.10135	.	0.093708	0.45867	D	0.000338	T	0.60090	0.2242	L	0.61218	1.895	0.36326	D	0.858544	B;P;P;P	0.44429	0.086;0.458;0.745;0.835	B;P;B;B	0.45577	0.031;0.486;0.247;0.429	T	0.63761	-0.6564	10	0.39692	T	0.17	-15.4851	12.4209	0.55520	0.4653:0.0:0.5347:0.0	.	178;652;652;652	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	N	652;652;178	ENSP00000396345:K652N;ENSP00000381522:K652N	ENSP00000219084:K178N	K	+	3	2	CHD9	51817838	0.679000	0.27596	0.982000	0.44146	0.992000	0.81027	-0.077000	0.11394	-0.501000	0.06605	-0.302000	0.09304	AAG		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	217	1	0	1	1	1	4	217					T	53260337	G	T	53260337	3	4	66	1	0	0	0	0	1	0	0	0	3341	962	34	3	1970	3	CHD9	16	53260337	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	23412230	53260337	37094416	241	8184											
RSPRY1	89970	broad.mit.edu	37	chr16	57243042	57243042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttattccactggaagaTccactgggaccagctgttat	10	9	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57243042T>C	ENST00000537866.1	+	4	1332	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RSPRY1_ENST00000394420.4_Silent_p.D153D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CACTGGAAGATCCACTGGGAC	0.338																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(457-459)gaT>gaC		ring finger and SPRY domain containing 1							213	203	206					16																	57243042		2198	4300	6498	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57243042T>C	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.459T>C	16.37:g.57243042T>C						RSPRY1_ENST00000394420.4_Silent_p.D153D	p.D153D			Q96DX4	RSPRY_HUMAN			4	1332	+			153					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.459T>C	CCDS10775.1																																																																																				0.338	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		87	752	0	0	0	1	0	87	752					C	57243042	T	C	57243042	2	2	66	1	0	0	0	0	0	0	0	1	13763	1432	50	4		4	RSPRY1	16	57243042	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	3982705	57243042	33111711	242	8185											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	423						8	423	---	---	---	---	-	57731887	GGA	-	57731885	7	5	66	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-HV-A7OP-01A-11D-A33T-08	488843	57731885	32622868	243	8186											
CES3	23491	broad.mit.edu	37	chr16	66998264	66998264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacactgcccccagcactGgagatgagcatgcacctggc	10	16	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:66998264G>A	ENST00000303334.4	+	5	636	c.565G>A	c.(565-567)Gga>Aga	p.G189R	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	189						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CCCCAGCACTGGAGATGAGCA	0.587																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(565-567)Gga>Aga		carboxylesterase 3							69	65	66					16																	66998264		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66998264G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.565G>A	16.37:g.66998264G>A	ENSP00000304782:p.Gly189Arg					CES3_ENST00000394037.1_Missense_Mutation_p.G189R	p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	5	636	+		Ovarian(137;0.0563)	189					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.565G>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374177	0.82573	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.70749	-0.51;-0.51	3.94	3.94	0.45596	Carboxylesterase, type B (1);	0.000000	0.42172	D	0.000752	D	0.82398	0.5028	M	0.81179	2.53	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.85959	0.1469	10	0.87932	D	0	.	15.0602	0.71947	0.0:0.0:1.0:0.0	.	189	Q6UWW8	EST3_HUMAN	R	189	ENSP00000304782:G189R;ENSP00000377602:G189R	ENSP00000304782:G189R	G	+	1	0	CES3	65555765	1.000000	0.71417	0.956000	0.39512	0.104000	0.19210	8.154000	0.89641	2.154000	0.67381	0.514000	0.50259	GGA		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		126	93	0	0	0	1	0	126	93					A	66998264	G	A	66998264	3	1	66	1	0	0	0	0	1	0	0	0	3280	1349	47	2	583	2	CES3	16	66998264	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9266379	66998264	23356489	244	8187											
DPEP3	64180	broad.mit.edu	37	chr16	68014188	68014188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctccgcgcgggttacGggctgccgcagcagcagcag	17	13	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68014188G>A	ENST00000268793.4	-	1	544	c.171C>T	c.(169-171)ccC>ccT	p.P57P	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	32					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGCGGGTTACGGGCTGCCgca	0.731																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(169-171)ccC>ccT		dipeptidase 3							4	7	6					16																	68014188		2014	3969	5983	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014188G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.171C>T	16.37:g.68014188G>A						DPEP3_ENST00000574342.1_5'UTR	p.P57P	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	544	-		Ovarian(137;0.192)	32					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.171C>T	CCDS10856.1																																																																																				0.731	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	51	0	0	0	1	0	7	51					A	68014188	G	A	68014188	2	1	66	1	0	0	0	0	0	0	0	1	4731	1103	39	1		1	DPEP3	16	68014188	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1015924	68014188	22340565	245	8188											
DPEP2	64174	broad.mit.edu	37	chr16	68024785	68024785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacacaccccgggcagccGagtgggagaagatcacaggt	14	12	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68024785G>A	ENST00000572888.1	-	6	1498	c.848C>T	c.(847-849)tCg>tTg	p.S283L	DPEP2_ENST00000412757.2_Missense_Mutation_p.S283L|DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	283					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCGGGCAGCCGAGTGGGAGAA	0.572																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(847-849)tCg>tTg		dipeptidase 2							118	118	118					16																	68024785		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68024785G>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.848C>T	16.37:g.68024785G>A	ENSP00000458977:p.Ser283Leu					DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L|DPEP2_ENST00000572888.1_Missense_Mutation_p.S283L	p.S283L			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1513	-		Ovarian(137;0.192)	283					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.848C>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509483	0.96386	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.39997	1.05;1.05	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83339	-0.0009	10	0.87932	D	0	-10.9443	16.3962	0.83605	0.0:0.0:1.0:0.0	.	283;196	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	L	283;283;196	ENSP00000377430:S283L;ENSP00000412549:S283L	ENSP00000314702:S196L	S	-	2	0	DPEP2	66582286	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	8.928000	0.92853	2.822000	0.97130	0.650000	0.86243	TCG		0.572	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		61	683	0	0	0	1	0	61	683					A	68024785	G	A	68024785	3	1	66	1	0	0	0	0	1	0	0	0	4730	1059	37	1	632	1	DPEP2	16	68024785	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	10597	68024785	22329968	246	8189											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	1375						7	1375	---	---	---	---	-	68718504	A	-	68718504	7	5	66	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	693719	68718504	21636249	247	8190											
ITGAE	3682	broad.mit.edu	37	chr17	3664312	3664314	+	In_Frame_Del	DEL	TCC	TCC	-													tctgcctcttctcaccagctTcctcctcctcctcgtcttcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:3664312_3664314delTCC	ENST00000263087.4	-	6	689_691	c.591_593delGGA	c.(589-594)gaggaa>gaa	p.197_198EE>E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	197	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCACCAGCTtcctcctcctcct	0.586																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(589-594)gaa>ga		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)																																				SO:0001651	inframe_deletion	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664312_3664314delTCC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.591_593delGGA	17.37:g.3664321_3664323delTCC	ENSP00000263087:p.Glu198del						p.EE197del	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	6	689_691	-			197			Glu-rich (acidic).|X-domain (extra domain).		Q17RS6|Q9NZU9	In_Frame_Del	DEL	ENST00000263087.4	37	c.591_593delGGA	CCDS32531.1																																																																																				0.586	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		7	422						7	422	---	---	---	---	-	3664314	TCC	-	3664312	7	5	66	1	0	1	0	1	0	0	0	0	7915	1783	62	0	3050	0	ITGAE	17	3664312	In_Frame_Del	DEL	TCC	TCGA-HV-A7OP-01A-11D-A33T-08		3664312	77530898	248	8191											
SLC16A11	162515	broad.mit.edu	37	chr17	6945098	6945098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgggggaggcgtggctGgaggggaggctggaccacag	21	8	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:6945098G>A	ENST00000308009.1	-	4	1653	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	439					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCGTGGCTGGAGGGGAGGC	0.642																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1315-1317)cCa>cTa		solute carrier family 16, member 11							24	32	29					17																	6945098		2200	4294	6494	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945098G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1316C>T	17.37:g.6945098G>A	ENSP00000310490:p.Pro439Leu					SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	p.P439L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1653	-			439						Missense_Mutation	SNP	ENST00000308009.1	37	c.1316C>T	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598178	0.28445	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.07114	3.22;3.23	5.12	3.12	0.35913	.	0.300428	0.30593	N	0.009284	T	0.06188	0.0160	L	0.36672	1.1	0.25669	N	0.985913	B	0.06786	0.001	B	0.06405	0.002	T	0.35748	-0.9776	10	0.25751	T	0.34	.	5.9864	0.19436	0.095:0.0:0.7042:0.2008	.	439	Q8NCK7	MOT11_HUMAN	L	439;407	ENSP00000310490:P439L;ENSP00000394449:P407L	ENSP00000310490:P439L	P	-	2	0	SLC16A11	6885822	0.958000	0.32768	0.072000	0.20136	0.838000	0.47535	2.862000	0.48388	0.702000	0.31825	0.650000	0.86243	CCA		0.642	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		4	217	0	0	0	1	0	4	217					A	6945098	G	A	6945098	3	1	66	1	0	0	0	0	1	0	0	0	14454	1348	47	2	103	2	SLC16A11	17	6945098	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3280786	6945098	74250112	249	8192											
KDM6B	23135	broad.mit.edu	37	chr17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcaccaccaccaGcagcagcagtagcagcagca	9	19	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7750709G>C	ENST00000448097.2	+	10	1527	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000254846.5_Missense_Mutation_p.S399T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672																																						ENST00000254846.5																			1	Substitution - Missense(1)	p.S399T(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1195-1197)aGc>aCc		lysine (K)-specific demethylase 6B							45	54	51					17																	7750709		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750709G>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1196G>C	17.37:g.7750709G>C	ENSP00000412513:p.Ser399Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.S399T	p.S399T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			10	1585	+			399			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1196G>C		.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002662	0.07819	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08458	3.09;3.09	2.79	0.726	0.18248	.	0.509864	0.16624	N	0.206341	T	0.03434	0.0099	N	0.08118	0	0.20196	N	0.999927	B	0.11235	0.004	B	0.13407	0.009	T	0.45205	-0.9277	10	0.05351	T	0.99	-5.8581	10.8708	0.46883	0.0:0.4056:0.5944:0.0	.	399	O15054-1	.	T	399	ENSP00000254846:S399T;ENSP00000412513:S399T	ENSP00000254846:S399T	S	+	2	0	KDM6B	7691434	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.396000	0.34531	0.250000	0.21479	-0.234000	0.12200	AGC		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		5	604	0	0	0	1	0	5	604					C	7750709	G	C	7750709	3	2	66	1	0	0	0	0	1	0	0	0	8168	971	34	5	1222	5	KDM6B	17	7750709	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	805611	7750709	73444501	250	8193											
CNTROB	116840	broad.mit.edu	37	chr17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtcctgcaggaagagCgggatgcagctcgggctggg	19	9	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7842903C>T	ENST00000563694.1	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000380262.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1000-1002)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein							82	77	79					17																	7842903		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842903C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1000C>T	17.37:g.7842903C>T	ENSP00000456335:p.Arg334Trp					CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W	p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1925	+		Prostate(122;0.173)	334					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1000C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277488	0.59758	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.65732	-0.17;0.72	5.26	5.26	0.73747	.	0.141093	0.32952	N	0.005452	T	0.61800	0.2376	L	0.29908	0.895	0.39509	D	0.968331	D;B;B;D	0.76494	0.999;0.124;0.124;0.998	P;B;B;P	0.56916	0.809;0.027;0.027;0.809	T	0.65882	-0.6060	10	0.62326	D	0.03	-11.6849	9.9811	0.41813	0.0:0.9069:0.0:0.0931	.	334;334;334;334	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	334	ENSP00000369614:R334W;ENSP00000369605:R334W	ENSP00000369605:R334W	R	+	1	2	CNTROB	7783628	0.992000	0.36948	0.998000	0.56505	0.192000	0.23643	2.031000	0.41117	2.475000	0.83589	0.313000	0.20887	CGG		0.592	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		6	699	0	0	0	1	0	6	699					T	7842903	C	T	7842903	3	4	66	1	0	0	0	0	1	0	0	0	3660	759	27	1	1030	1	CNTROB	17	7842903	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	92194	7842903	73352307	251	8194											
C17orf68	80169	broad.mit.edu	37	chr17	8135782	8135782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactgaaacctctctgcccGcaccaggcagcctagaggaa	9	15	1	2	rs200222583		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:8135782G>A	ENST00000315684.8	-	12	1964	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	653					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCTGCCCGCACCAGGCAG	0.547																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1957-1959)Cgg>Tgg		CTS telomere maintenance complex component 1		G	TRP/ARG	1,3823		0,1,1911	100	101	100		1957	2.9	1	17		100	0,8268		0,0,4134	yes	missense	CTC1	NM_025099.5	101	0,1,6045	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging	653/1218	8135782	1,12091	1912	4134	6046	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135782G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1957C>T	17.37:g.8135782G>A	ENSP00000313759:p.Arg653Trp						p.R653W	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			12	1964	-			653					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1957C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	8.701	0.909645	0.17833	2.62E-4	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84370	-1.84;-1.84	4.87	2.86	0.33363	.	0.447163	0.22531	N	0.058857	D	0.90490	0.7021	M	0.68317	2.08	0.33598	D	0.601972	D	0.89917	1.0	D	0.91635	0.999	D	0.92332	0.5874	10	0.72032	D	0.01	-25.5812	12.7044	0.57051	0.0:0.0:0.7046:0.2954	.	653	Q2NKJ3	CTC1_HUMAN	W	653;618	ENSP00000313759:R653W;ENSP00000396018:R618W	ENSP00000313759:R653W	R	-	1	2	CTC1	8076507	0.014000	0.17966	0.955000	0.39395	0.173000	0.22820	0.832000	0.27490	0.351000	0.24027	-0.808000	0.03180	CGG		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		7	747	0	0	0	1	0	7	747					A	8135782	G	A	8135782	3	1	66	1	0	0	0	0	1	0	0	0	1882	1086	38	1	1744	1	C17orf68	17	8135782	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	292879	8135782	73059428	252	8195											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205233	14205233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctttttcagtgggtctgGgagcaagcagctgccgcagg	15	10	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:14205233G>A	ENST00000360954.2	+	1	834	c.398G>A	c.(397-399)gGg>gAg	p.G133E	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	133					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		AGTGGGTCTGGGAGCAAGCAG	0.682																																						ENST00000360954.2																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(397-399)gGg>gAg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							11	13	12					17																	14205233		2198	4278	6476	SO:0001583	missense	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14205233G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.398G>A	17.37:g.14205233G>A	ENSP00000354213:p.Gly133Glu						p.G133E	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	834	+			133					B3KN58|D3DTS6	Missense_Mutation	SNP	ENST00000360954.2	37	c.398G>A	CCDS11167.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384840	0.61956	.	.	ENSG00000125430	ENST00000360954	T	0.43294	0.95	4.26	3.21	0.36854	.	0.000000	0.64402	U	0.000001	T	0.32585	0.0834	L	0.50993	1.605	0.58432	D	0.999996	P	0.39480	0.675	B	0.28385	0.089	T	0.40098	-0.9581	10	0.42905	T	0.14	.	14.8206	0.70070	0.0:0.1448:0.8552:0.0	.	133	Q9Y662	HS3SB_HUMAN	E	133	ENSP00000354213:G133E	ENSP00000354213:G133E	G	+	2	0	HS3ST3B1	14145958	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.788000	0.75105	2.375000	0.81037	0.555000	0.69702	GGG		0.682	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		38	52	0	0	0	1	0	38	52					A	14205233	G	A	14205233	3	1	66	1	0	0	0	0	1	0	0	0	7396	1232	43	2	400	2	HS3ST3B1	17	14205233	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	6069451	14205233	66989977	253	8196											
UBB	7314	broad.mit.edu	37	chr17	16285638	16285638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactacaacatccagaaGgagtcgaccctgcacctggt	9	13	1	2	rs534325931		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000302182.3_Silent_p.K139K|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		24534	0.001		0.0	False		,,,				2504	0.0				Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)aaG>aaA		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285638G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.K139K	p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	809	+			139			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.417G>A	CCDS11177.1																																																																																				0.567	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	561	0	0	0	1	0	5	561					A	16285638	G	A	16285638	2	1	66	1	0	0	0	0	0	0	0	1	16895	991	35	2		2	UBB	17	16285638	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2080405	16285638	64909572	254	8197											
FBXW10	10517	broad.mit.edu	37	chr17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taggctgttttctggaaaagGagacataaccaagccagggt	12	7	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																						ENST00000308799.4																			6	Substitution - Missense(6)	p.G245A(6)	endometrium(6)	NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(733-735)gGa>gCa		F-box and WD repeat domain containing 10							231	173	193					17																	18653098		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18653098G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala					FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A	p.G245A			Q5XX13	FBW10_HUMAN			3	953	+			245					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.734G>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	793	0	0	0	1	0	5	793					C	18653098	G	C	18653098	3	2	66	1	0	0	0	0	1	0	0	0	5788	1174	41	5	744	5	FBXW10	17	18653098	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2367460	18653098	62542112	255	8198											
DHRS7B	25979	broad.mit.edu	37	chr17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-													gatgttcttgctgctgtgggGaagaagaagaaagatgtgat							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(841-846)ggg>gg		dehydrogenase/reductase (SDR family) member 7B																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del					DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del	p.GK281del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1163_1165	+			281					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		7	1087						7	1087	---	---	---	---	-	21094333	GAA	-	21094331	7	5	66	1	0	1	0	1	0	0	0	0	4512	1161	41	0	869	0	DHRS7B	17	21094331	In_Frame_Del	DEL	GAA	TCGA-HV-A7OP-01A-11D-A33T-08	2441233	21094331	60100879	256	8199											
DLX3	1747	broad.mit.edu	37	chr17	48072343	48072343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgctgctgagcttgCgatcgaaggagccactcatc	13	10	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:48072343C>T	ENST00000434704.2	-	1	245	c.20G>A	c.(19-21)cGc>cAc	p.R7H	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	7					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGAGCTTGCGATCGAAGGA	0.647																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(19-21)cGc>cAc		distal-less homeobox 3							40	37	38					17																	48072343		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072343C>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.20G>A	17.37:g.48072343C>T	ENSP00000389870:p.Arg7His						p.R7H	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			1	245	-			7					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.20G>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318814	0.81469	.	.	ENSG00000064195	ENST00000434704	D	0.92149	-2.98	4.65	4.65	0.58169	.	0.064462	0.56097	D	0.000028	D	0.88819	0.6540	L	0.42245	1.32	0.80722	D	1	D	0.61080	0.989	P	0.46320	0.512	D	0.88470	0.3061	10	0.59425	D	0.04	-24.048	8.6145	0.33822	0.0:0.8977:0.0:0.1023	.	7	O60479	DLX3_HUMAN	H	7	ENSP00000389870:R7H	ENSP00000389870:R7H	R	-	2	0	DLX3	45427342	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.671000	0.25172	2.426000	0.82243	0.491000	0.48974	CGC		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			4	205	0	0	0	1	0	4	205					T	48072343	C	T	48072343	3	4	66	1	0	0	0	0	1	0	0	0	4588	768	27	1	855	1	DLX3	17	48072343	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	26978012	48072343	33122867	257	8200											
MRC2	9902	broad.mit.edu	37	chr17	60754766	60754766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgacgccggagctgccGgggccagatcccacgcccag	14	17	0	2	rs201376256		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:60754766G>A	ENST00000303375.5	+	12	2373	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					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)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCTGCCGGGGCCAGATC	0.667																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1969-1971)ccG>ccA		mannose receptor, C type 2		T		0,4378		0,0,2189	14	16	15		1971	-8.1	0.2	17		15	1,8567		0,1,4283	no	coding-synonymous	MRC2	NM_006039.3		0,1,6472	AA,AG,GG		0.0117,0.0,0.0077		657/1480	60754766	1,12945	2189	4284	6473	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60754766G>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.1971G>A	17.37:g.60754766G>A							p.P657P	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			12	2373	+			657					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1971G>A	CCDS11634.1																																																																																				0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			41	70	0	0	0	1	0	41	70					A	60754766	G	A	60754766	2	1	66	1	0	0	0	0	0	0	0	1	9799	1103	39	1		1	MRC2	17	60754766	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	12682423	60754766	20440444	258	8201											
FTSJ3	117246	broad.mit.edu	37	chr17	61901211	61901211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctcaaggagaacatgCcagtctccccctcgtctgca	10	14	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:61901211C>T	ENST00000427159.2	-	13	1901	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D		NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGAGAACATGCCAGTCTCCCC	0.567																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1255-1257)gGc>gAc		FtsJ homolog 3 (E. coli)							131	122	125					17																	61901211		2203	4300	6503	SO:0001583	missense	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901211C>T	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"SPB1 RNA methyltransferase homolog (S. cerevisiae)"						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1256G>A	17.37:g.61901211C>T	ENSP00000396673:p.Gly419Asp						p.G419D	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			13	1901	-			419						Missense_Mutation	SNP	ENST00000427159.2	37	c.1256G>A	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707650	0.48412	.	.	ENSG00000108592	ENST00000427159	T	0.27557	1.66	5.65	5.65	0.86999	.	0.142754	0.50627	D	0.000111	T	0.37265	0.0997	L	0.39898	1.24	0.40987	D	0.984821	D	0.65815	0.995	P	0.57425	0.82	T	0.03684	-1.1013	10	0.02654	T	1	-24.3144	17.2626	0.87075	0.0:1.0:0.0:0.0	.	419	Q8IY81	RRMJ3_HUMAN	D	419	ENSP00000396673:G419D	ENSP00000396673:G419D	G	-	2	0	FTSJ3	59254943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.528000	0.60580	2.941000	0.99782	0.655000	0.94253	GGC		0.567	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1			6	750	0	0	0	1	0	6	750					T	61901211	C	T	61901211	3	4	66	1	0	0	0	0	1	0	0	0	6116	739	26	2	1323	2	FTSJ3	17	61901211	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1146445	61901211	19293999	259	8202											
SCN4A	6329	broad.mit.edu	37	chr17	62045516	62045516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataccatgtgtcattgccGtaccacgtgtcattgctgta	8	12	2	0	rs201411232		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:62045516G>A	ENST00000435607.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000578147.1_Silent_p.Y301Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCATTGCCGTACCACGTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20556	0.0		0.001	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(901-903)taC>taT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						289	283	285					17																	62045516		2178	4279	6457	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045516G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.903C>T	17.37:g.62045516G>A						SCN4A_ENST00000435607.1_Silent_p.Y301Y	p.Y301Y			P35499	SCN4A_HUMAN			6	979	-			301					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.903C>T	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	704	0	0	0	1	0	6	704					A	62045516	G	A	62045516	2	1	66	1	0	0	0	0	0	0	0	1	13970	1140	40	1		1	SCN4A	17	62045516	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	144305	62045516	19149694	260	8203											
KIAA0802	23255	broad.mit.edu	37	chr18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-													cccaccgatcagctcaggggCccccccgttttacctgagca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98	108	104					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			10	1747						10	1747	---	---	---	---	-	8793004	C	-	8793004	7	5	66	1	0	1	0	1	0	0	0	0	8224	726	26	0	1918	0	KIAA0802	18	8793004	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08		8793004	69284244	261	8204											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		16	1534						16	1534	---	---	---	---	T	21745097	-	T	21745096	7	5	66	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	12952092	21745096	56332152	262	8205											
ASXL3	80816	broad.mit.edu	37	chr18	31241680	31241680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcttccttccagcagcaCaccaaaaaggctcttaaaca	6	13	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31241680C>T	ENST00000269197.5	+	5	456	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAGCAGCACACCAAAAAGG	0.408																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(454-456)caC>caT		additional sex combs like 3 (Drosophila)							73	69	70					18																	31241680		1924	4147	6071	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31241680C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.456C>T	18.37:g.31241680C>T							p.H152H	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			5	456	+			152					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.456C>T	CCDS45847.1																																																																																				0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			11	179	0	0	0	1	0	11	179					T	31241680	C	T	31241680	2	4	66	1	0	0	0	0	0	0	0	1	1069	477	17	2		2	ASXL3	18	31241680	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	9496584	31241680	46835568	263	8206											
NOL4	8715	broad.mit.edu	37	chr18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccgtttccacatgcatcGaataaataatgtcaaagaaa	6	10	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(340-342)tCg>tTg		nucleolar protein 4							125	111	116					18																	31709908		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31709908G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.341C>T	18.37:g.31709908G>A	ENSP00000261592:p.Ser114Leu					NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR	p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	638	-			114					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.341C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	33	5.198531	0.94997	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	D	0.82984	-1.67	5.72	5.72	0.89469	.	.	.	.	.	D	0.84826	0.5558	L	0.46157	1.445	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50617	0.646;0.569;0.569	D	0.86139	0.1580	9	0.72032	D	0.01	-2.6538	18.866	0.92292	0.0:0.0:1.0:0.0	.	40;114;114	B4DSQ0;O94818;O94818-2	.;NOL4_HUMAN;.	L	114;40	ENSP00000261592:S114L	ENSP00000261592:S114L	S	-	2	0	NOL4	29963906	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.268000	0.95675	2.710000	0.92621	0.585000	0.79938	TCG		0.388	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		151	431	0	0	0	1	0	151	431					A	31709908	G	A	31709908	3	1	66	1	0	0	0	0	1	0	0	0	10566	1059	37	1	1615	1	NOL4	18	31709908	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	468228	31709908	46367340	264	8207											
FHOD3	80206	broad.mit.edu	37	chr18	34310682	34310682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaacgccatcaatattgGtctgacggtgctgccccctc	10	13	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34310682G>A	ENST00000359247.4	+	16	2915	c.2915G>A	c.(2914-2916)gGt>gAt	p.G972D	FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G989D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000592128.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCAATATTGGTCTGACGGTG	0.428																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2965-2967)gGt>gAt		formin homology 2 domain containing 3							136	122	127					18																	34310682		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310682G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2915G>A	18.37:g.34310682G>A	ENSP00000352186:p.Gly972Asp					FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G972D	p.G989D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			17	3088	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	972			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2966G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680469	0.88542	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17213	2.29;2.29;2.29	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.976	T	0.52208	-0.8606	10	0.72032	D	0.01	.	17.6127	0.88059	0.0:0.0:1.0:0.0	.	951;972;989	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	D	989;972;951	ENSP00000257209:G989D;ENSP00000352186:G972D;ENSP00000411430:G951D	ENSP00000257209:G989D	G	+	2	0	FHOD3	32564680	1.000000	0.71417	0.457000	0.27056	0.991000	0.79684	9.756000	0.98918	2.479000	0.83701	0.557000	0.71058	GGT		0.428	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		6	691	0	0	0	1	0	6	691					A	34310682	G	A	34310682	3	1	66	1	0	0	0	0	1	0	0	0	5908	1261	44	2	3032	2	FHOD3	18	34310682	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2600774	34310682	43766566	265	8208											
CELF4	56853	broad.mit.edu	37	chr18	34855150	34855150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcctcgaaaaggcggcGcacgtcgtcctcggactgtt	13	12	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34855150G>A	ENST00000591282.1	-	4	504	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000591287.1_Missense_Mutation_p.R168C|CELF4_ENST00000420428.2_Missense_Mutation_p.R169C|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	169	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AAAAGGCGGCGCACGTCGTCC	0.622																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(505-507)Cgc>Tgc		CUGBP, Elav-like family member 4							69	71	71					18																	34855150		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34855150G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.505C>T	18.37:g.34855150G>A	ENSP00000464794:p.Arg169Cys					CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|CELF4_ENST00000591282.1_Missense_Mutation_p.R169C|CELF4_ENST00000591287.1_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C	p.R169C	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			4	900	-			169			RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.505C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246354	0.80024	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T;T	0.19669	2.3;2.13;2.13	4.38	2.49	0.30216	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115249	0.64402	D	0.000010	T	0.49270	0.1547	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.957;0.999;0.995;0.936;0.986	T	0.54721	-0.8251	10	0.87932	D	0	-7.9084	10.8412	0.46718	0.0:0.1421:0.7101:0.1477	.	168;158;159;168;169	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	C	169;169;168;159;52	ENSP00000355089:R169C;ENSP00000406823:R169C;ENSP00000335631:R159C	ENSP00000335631:R159C	R	-	1	0	CELF4	33109148	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.432000	0.73400	0.533000	0.28675	-0.176000	0.13171	CGC		0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		6	918	0	0	0	1	0	6	918					A	34855150	G	A	34855150	3	1	66	1	0	0	0	0	1	0	0	0	3227	1087	38	1	991	1	CELF4	18	34855150	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	544468	34855150	43222098	266	8209											
LRG1	116844	broad.mit.edu	37	chr19	4538264	4538264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggccagcttgttgccGttcaggaagaggtagcgcag	14	11	1	1	rs142530537		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4538264G>A	ENST00000306390.6	-	2	1192	c.732C>T	c.(730-732)aaC>aaT	p.N244N	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	244					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGTTGCCGTTCAGGAAGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18865	0.001		0.0	False		,,,				2504	0.0					ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(730-732)aaC>aaT		leucine-rich alpha-2-glycoprotein 1		G		0,4406		0,0,2203	163	178	173		732	-10.5	0	19	dbSNP_134	173	3,8597		0,3,4297	no	coding-synonymous	LRG1	NM_052972.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		244/348	4538264	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538264G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.732C>T	19.37:g.4538264G>A						CTB-50L17.14_ENST00000586020.1_Intron	p.N244N	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1192	-		Hepatocellular(1079;0.137)	244					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.732C>T	CCDS12130.1																																																																																				0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		9	1597	0	0	0	1	0	9	1597					A	4538264	G	A	4538264	2	1	66	1	0	0	0	0	0	0	0	1	8980	1136	40	1		1	LRG1	19	4538264	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		4538264	54590719	267	8210											
PTPRS	5802	broad.mit.edu	37	chr19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgaggggcgaggtcgGcattgttcaggaggcatttg	20	5	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:5218496G>A	ENST00000587303.1	-	24	4082	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1329V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCGAGGTCGGCATTGTTCAG	0.527																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3985-3987)gCc>gTc		protein tyrosine phosphatase, receptor type, S							241	212	222					19																	5218496		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218496G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3983C>T	19.37:g.5218496G>A	ENSP00000467537:p.Ala1328Val					PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000588552.1_5'UTR	p.A1329V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4219	-			1328					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3986C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867332	0.72065	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56776	0.59;0.58;0.56;0.44;0.53	4.3	4.3	0.51218	.	0.469026	0.18281	U	0.146037	T	0.67979	0.2951	L	0.52364	1.645	0.80722	D	1	P;P;D;B;D;D	0.89917	0.84;0.82;1.0;0.065;0.998;1.0	P;P;D;B;D;D	0.91635	0.709;0.535;0.999;0.059;0.968;0.997	T	0.70475	-0.4861	10	0.59425	D	0.04	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	910;897;901;1306;1328;923	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	923;1329;1328;1328;1319;1324;1306;910;901;897	ENSP00000361489:A1329V;ENSP00000349932:A1328V;ENSP00000262963:A1324V;ENSP00000269907:A1306V;ENSP00000327313:A897V	ENSP00000262963:A1324V	A	-	2	0	PTPRS	5169496	1.000000	0.71417	0.655000	0.29622	0.179000	0.23085	9.143000	0.94623	2.232000	0.73038	0.561000	0.74099	GCC		0.527	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	1295	0	0	0	1	0	8	1295					A	5218496	G	A	5218496	3	1	66	1	0	0	0	0	1	0	0	0	12861	1203	42	2	1919	2	PTPRS	19	5218496	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	680232	5218496	53910487	268	8211											
ILF3	3609	broad.mit.edu	37	chr19	10799894	10799894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaactccccggggtccgGccagaactacagtggccctc	10	17	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:10799894G>A	ENST00000590261.1	+	19	2591	c.2591G>A	c.(2590-2592)gGc>gAc	p.G864D	ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D|ILF3_ENST00000449870.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	864	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G864D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGGGGTCCGGCCAGAACTAC	0.602																																						ENST00000449870.1																			1	Substitution - Missense(1)	p.G864D(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2602-2604)gGc>gAc		interleukin enhancer binding factor 3, 90kDa							123	131	128					19																	10799894		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799894G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2591G>A	19.37:g.10799894G>A	ENSP00000468156:p.Gly864Asp					ILF3_ENST00000590261.1_Missense_Mutation_p.G864D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D|ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR	p.G868D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2920	+			864			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2603G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237512	0.58886	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14022	2.54;2.54	5.32	5.32	0.75619	.	0.675832	0.15183	N	0.276001	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B;B	0.27416	0.178;0.111	B;B	0.30251	0.113;0.053	T	0.17531	-1.0366	10	0.66056	D	0.02	.	11.9264	0.52823	0.0826:0.0:0.9174:0.0	.	868;864	G5E9M5;Q12906	.;ILF3_HUMAN	D	868;864	ENSP00000404121:G868D;ENSP00000315205:G864D	ENSP00000315205:G864D	G	+	2	0	ILF3	10660894	1.000000	0.71417	0.907000	0.35723	0.903000	0.53119	3.118000	0.50414	2.767000	0.95098	0.655000	0.94253	GGC		0.602	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	1196	0	0	0	1	0	7	1196					A	10799894	G	A	10799894	3	1	66	1	0	0	0	0	1	0	0	0	7742	1203	42	2	2749	2	ILF3	19	10799894	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5581398	10799894	48329089	269	8212											
FFAR3	2865	broad.mit.edu	37	chr19	35849914	35849914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggtggtcttcgtggGcaagctgcagcgccgcccgg	17	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35849914G>A	ENST00000327809.4	+	2	323	c.122G>A	c.(121-123)gGc>gAc	p.G41D	FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	41					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTCTTCGTGGGCAAGCTGCAG	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(121-123)gGc>gAc		free fatty acid receptor 3							170	154	160					19																	35849914		2199	4295	6494	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849914G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.122G>A	19.37:g.35849914G>A	ENSP00000328230:p.Gly41Asp					FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	323	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		41					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.122G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163154	0.38217	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.99	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.642786	0.15113	U	0.279845	T	0.33294	0.0858	M	0.64404	1.975	0.29428	N	0.860037	P	0.40360	0.714	B	0.40782	0.34	T	0.18587	-1.0332	10	0.35671	T	0.21	-10.7349	6.5349	0.22348	0.1713:0.1498:0.6788:0.0	.	41	O14843	FFAR3_HUMAN	D	41	ENSP00000328230:G41D	ENSP00000328230:G41D	G	+	2	0	FFAR3	40541754	0.000000	0.05858	0.992000	0.48379	0.704000	0.40688	-0.559000	0.05971	0.252000	0.21531	0.455000	0.32223	GGC		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		5	621	0	0	0	1	0	5	621					A	35849914	G	A	35849914	3	1	66	1	0	0	0	0	1	0	0	0	5854	1203	42	2	124	2	FFAR3	19	35849914	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	25050020	35849914	23279069	270	8213											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		14	2030	0	0	0	1	0	14	2030					A	40395919	G	A	40395919	3	1	66	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4546005	40395919	18733064	271	8214											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000450241.2_Silent_p.E527E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	804	0	0	0	1	0	5	804					C	40580666	T	C	40580666	2	2	66	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	184747	40580666	18548317	272	8215											
EGLN2	112398	broad.mit.edu	37	chr19	41307036	41307036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatatcgtgccctgcatgCggtactacggcatctgcgtc	10	13	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41307036C>T	ENST00000593726.1	+	1	1587	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	EGLN2_ENST00000594140.1_5'Flank|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	187					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.R187W(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGCATGCGGTACTACGG	0.692																																						ENST00000593726.1																			1	Substitution - Missense(1)	p.R187W(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(559-561)Cgg>Tgg		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						79	85	83					19																	41307036		2203	4299	6502	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307036C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.559C>T	19.37:g.41307036C>T	ENSP00000469686:p.Arg187Trp					RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W	p.R187W			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1587	+			187					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.559C>T	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688087	0.68271	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26223	1.75;1.75	4.16	3.1	0.35709	.	0.145189	0.42294	D	0.000737	T	0.34135	0.0887	L	0.34521	1.04	0.41426	D	0.987835	D	0.76494	0.999	D	0.65684	0.937	T	0.06625	-1.0816	10	0.51188	T	0.08	-11.9768	10.1844	0.42988	0.4904:0.5096:0.0:0.0	.	187	Q96KS0	EGLN2_HUMAN	W	187	ENSP00000307080:R187W;ENSP00000385253:R187W	ENSP00000307080:R187W	R	+	1	2	EGLN2	45998876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.109000	0.31135	1.078000	0.41014	0.591000	0.81541	CGG		0.692	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			6	835	0	0	0	1	0	6	835					T	41307036	C	T	41307036	3	4	66	1	0	0	0	0	1	0	0	0	4985	759	27	1	561	1	EGLN2	19	41307036	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	726370	41307036	17821947	273	8216											
CYP2F1	1572	broad.mit.edu	37	chr19	41622456	41622456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtgaaggaggccctggtgGaccagggagaggagtttagt	18	6	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41622456G>T	ENST00000331105.2	+	3	340	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	90					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCCCTGGTGGACCAGGGAGA	0.597																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(268-270)Gac>Tac		cytochrome P450, family 2, subfamily F, polypeptide 1							104	101	102					19																	41622456		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622456G>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.268G>T	19.37:g.41622456G>T	ENSP00000333534:p.Asp90Tyr						p.D90Y	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			3	340	+			90					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.268G>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455851	0.43634	.	.	ENSG00000197446	ENST00000331105	T	0.69926	-0.44	3.91	1.68	0.24146	.	0.188299	0.45361	N	0.000375	T	0.80031	0.4549	M	0.87456	2.885	0.34718	D	0.728485	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.82464	-0.0444	10	0.87932	D	0	.	7.1129	0.25401	0.0957:0.0:0.734:0.1703	.	90;90	Q32MN5;P24903	.;CP2F1_HUMAN	Y	90	ENSP00000333534:D90Y	ENSP00000333534:D90Y	D	+	1	0	CYP2F1	46314296	0.972000	0.33761	0.753000	0.31225	0.591000	0.36615	1.610000	0.36869	0.298000	0.22638	0.544000	0.68410	GAC		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			37	464	1	0	2.42023e-17	1	2.60944e-17	37	464					T	41622456	G	T	41622456	3	4	66	1	0	0	0	0	1	0	0	0	4182	1174	41	3	274	3	CYP2F1	19	41622456	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	315420	41622456	17506527	274	8217											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		7	154						7	154	---	---	---	---	-	45381751	GAG	-	45381749	6	5	66	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-HV-A7OP-01A-11D-A33T-08	3759293	45381749	13747234	275	8218											
MYH14	79784	broad.mit.edu	37	chr19	50781417	50781417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagaactgagcagcctGcagactgcacgtcaggaggg	16	11	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50781417G>A	ENST00000596571.1	+	27	3780	c.3780G>A	c.(3778-3780)ctG>ctA	p.L1260L	MYH14_ENST00000601313.1_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L|MYH14_ENST00000440075.2_Silent_p.L1301L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000598205.1_Silent_p.L1268L|MYH14_ENST00000262269.8_Silent_p.L1301L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1260					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAGCAGCCTGCAGACTGCAC	0.677																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3901-3903)ctG>ctA		myosin, heavy chain 14, non-muscle							23	28	26					19																	50781417		2052	4204	6256	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50781417G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3780G>A	19.37:g.50781417G>A						MYH14_ENST00000598205.1_Silent_p.L1268L|MYH14_ENST00000596571.1_Silent_p.L1260L|MYH14_ENST00000601313.1_Silent_p.L1301L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000262269.8_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L	p.L1301L			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	30	3950	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1260					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.3903G>A	CCDS59411.1																																																																																				0.677	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		4	139	0	0	0	1	0	4	139					A	50781417	G	A	50781417	2	1	66	1	0	0	0	0	0	0	0	1	10074	1306	46	2		2	MYH14	19	50781417	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5399668	50781417	8347566	276	8219											
SHANK1	50944	broad.mit.edu	37	chr19	51219944	51219944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgcaggtccgggatgCcaatcctgaagaccatcatg	12	11	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:51219944C>T	ENST00000293441.1	-	1	251	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D|SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	78					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCGGGATGCCAATCCTGAA	0.632																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(232-234)gGc>gAc		SH3 and multiple ankyrin repeat domains 1							97	81	87					19																	51219944		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219944C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.233G>A	19.37:g.51219944C>T	ENSP00000293441:p.Gly78Asp					SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D|SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D	p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	251	-		all_neural(266;0.057)	78					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.233G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754283	0.49362	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.39406	1.19;1.17;1.08	3.14	3.14	0.36123	.	0.578214	0.13868	U	0.357234	T	0.59376	0.2189	M	0.63843	1.955	0.51482	D	0.999926	D	0.89917	1.0	D	0.69654	0.965	T	0.59354	-0.7470	10	0.46703	T	0.11	.	13.4057	0.60911	0.0:1.0:0.0:0.0	.	78	Q9Y566	SHAN1_HUMAN	D	78	ENSP00000293441:G78D;ENSP00000351984:G78D;ENSP00000375690:G78D	ENSP00000293441:G78D	G	-	2	0	SHANK1	55911756	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.514000	0.60482	1.475000	0.48197	0.298000	0.19748	GGC		0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	493	0	0	0	1	0	6	493					T	51219944	C	T	51219944	3	4	66	1	0	0	0	0	1	0	0	0	14314	739	26	2	6344	2	SHANK1	19	51219944	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	438527	51219944	7909039	277	8220											
LILRB3	11025	broad.mit.edu	37	chr19	54721186	54721186	+	Splice_Site	DEL	A	A	-													gcctggagaggaaaggactcAcctcagtgtccatctgcctg					rs560928027	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:54721186delA	ENST00000391750.1	-	13	1886		c.e13+1		LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAAGGACTCACCTCAGTGTC	0.607													|||unknown(NO_COVERAGE)	4	0.000798722	0.0015	0.0014	5008	,	,		15822	0.0		0.001	False		,,,				2504	0.0					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.e13+1		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3			,	273,3943		12,249,1847	90	90	90		,	-0.9	0	19		93	386,7868		0,386,3741	no	splice-5,splice-5	LILRB3	NM_006864.2,NM_001081450.1	,	12,635,5588	A1A1,A1R,RR		4.6765,6.4753,5.2847	,	,	54721186	659,11811	2167	4299	6466	SO:0001630	splice_region_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721186delA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1749+1T>-	19.37:g.54721186delA						LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site				O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1886	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)							C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	DEL	ENST00000391750.1	37		CCDS33105.1																																																																																				0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	Intron	10	311						10	311	---	---	---	---	-	54721186	A	-	54721186	8	5	66	1	0	1	0	1	0	0	1	0	8824	173	6	0	152	0	LILRB3	19	54721186	Splice_Site	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	3501242	54721186	4407797	278	8221											
NLRP2	55655	broad.mit.edu	37	chr19	55494011	55494011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaagaagccggtgccCgtcctcctggggagtttgct	15	10	0	3	rs139643111		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494011C>T	ENST00000543010.1	+	6	1088	c.945C>T	c.(943-945)ccC>ccT	p.P315P	NLRP2_ENST00000538819.1_Silent_p.P291P|NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000391721.4_Silent_p.P291P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCCGGTGCCCGTCCTCCTGG	0.637																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(943-945)ccC>ccT		NLR family, pyrin domain containing 2		C	,,,	0,4406		0,0,2203	47	43	44		945,879,876,945	-3.1	0	19	dbSNP_134	44	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	315/1063,293/1041,292/1040,315/1063	55494011	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494011C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.945C>T	19.37:g.55494011C>T						NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000391721.4_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000538819.1_Silent_p.P291P	p.P315P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1088	+			315			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.945C>T	CCDS12913.1																																																																																				0.637	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		23	379	0	0	0	1	0	23	379					T	55494011	C	T	55494011	2	4	66	1	0	0	0	0	0	0	0	1	10519	639	23	1		1	NLRP2	19	55494011	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	772825	55494011	3634972	279	8222											
NLRP2	55655	broad.mit.edu	37	chr19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-													acaccctggagaaggaggagGaagaggatagggacggccac					rs3745905|rs386811006|rs61735083	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Poly-Glu.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1564-1566)del		NLR family, pyrin domain containing 2																																				SO:0001651	inframe_deletion	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494630_55494632delGAA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1564_1566delGAA	19.37:g.55494630_55494632delGAA	ENSP00000445135:p.Glu523del					NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del	p.E523del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1707_1709	+			523			NACHT.|Poly-Glu.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	In_Frame_Del	DEL	ENST00000543010.1	37	c.1564_1566delGAA	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		7	535						7	535	---	---	---	---	-	55494632	GAA	-	55494630	7	5	66	1	0	1	0	1	0	0	0	0	10519	1175	41	0	1582	0	NLRP2	19	55494630	In_Frame_Del	DEL	GAA	TCGA-HV-A7OP-01A-11D-A33T-08	619	55494630	3634353	280	8223											
RSPO4	343637	broad.mit.edu	37	chr20	944604	944604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggcctctggatgggaCatttccttgactcagaaagc	13	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:944604C>T	ENST00000217260.4	-	4	665	c.569G>A	c.(568-570)tGt>tAt	p.C190Y	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	190	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGATGGGACATTTCCTTGA	0.672																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(568-570)tGt>tAt		R-spondin 4							48	54	52					20																	944604		2011	4180	6191	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944604C>T	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.569G>A	20.37:g.944604C>T	ENSP00000217260:p.Cys190Tyr					RSPO4_ENST00000400634.2_Intron	p.C190Y	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	665	-			190			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.569G>A	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674741	0.67928	.	.	ENSG00000101282	ENST00000217260	D	0.93426	-3.22	4.44	4.44	0.53790	.	0.143259	0.46758	D	0.000279	D	0.96716	0.8928	M	0.92507	3.315	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	D	0.97849	1.0273	10	0.87932	D	0	-21.0985	16.0364	0.80631	0.0:1.0:0.0:0.0	.	190	Q2I0M5	RSPO4_HUMAN	Y	190	ENSP00000217260:C190Y	ENSP00000217260:C190Y	C	-	2	0	RSPO4	892604	1.000000	0.71417	0.959000	0.39883	0.814000	0.46013	5.886000	0.69743	2.206000	0.71126	0.298000	0.19748	TGT		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		55	382	0	0	0	1	0	55	382					T	944604	C	T	944604	3	4	66	1	0	0	0	0	1	0	0	0	13762	478	17	2	143	2	RSPO4	20	944604	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		944604	62080916	281	8224											
C20orf46	55321	broad.mit.edu	37	chr20	1161888	1161888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggaaaacgagggcGgaaacaaagccataatccac	9	12	1	0	rs151290339		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:1161888G>A	ENST00000381894.3	-	2	1046	c.375C>T	c.(373-375)tcC>tcT	p.S125S	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	125						integral component of membrane (GO:0016021)											AAACGAGGGCGGAAACAAAGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18961	0.0		0.001	False		,,,				2504	0.0					ENST00000381894.3																			0											c.(373-375)tcC>tcT		transmembrane protein 74B		G		1,4405	2.1+/-5.4	0,1,2202	89	90	90		375	-3.3	1	20	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	C20orf46	NM_018354.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		125/257	1161888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1161888G>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.375C>T	20.37:g.1161888G>A							p.S125S	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1046	-			125					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.375C>T	CCDS13011.1																																																																																				0.617	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		5	553	0	0	0	1	0	5	553					A	1161888	G	A	1161888	2	1	66	1	0	0	0	0	0	0	0	1	2120	1103	39	1		1	C20orf46	20	1161888	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	217284	1161888	61863632	282	8225											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-													caggccagatgtgattctggAaaaaggcgaagtgattgact							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:18142695delA	ENST00000435364.3	+	5	1255	c.914delA	c.(913-915)gaafs	p.E305fs	CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000377681.3_Frame_Shift_Del_p.E304fs	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	305					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGATTCTGGAAAAAGGCGAA	0.537																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(913-915)gafs		CSRP2 binding protein							118	134	129					20																	18142695		2203	4300	6503	SO:0001589	frameshift_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142695delA	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.914delA	20.37:g.18142695delA	ENSP00000392318:p.Glu305fs					CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs	p.E305fs			Q9H8E8	CSR2B_HUMAN			6	1564	+			305					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Del	DEL	ENST00000435364.3	37	c.914delA	CCDS13133.1																																																																																				0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		9	1044						9	1044	---	---	---	---	-	18142695	A	-	18142695	7	5	66	1	0	1	0	1	0	0	0	0	3979	246	9	0	932	0	CSRP2BP	20	18142695	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	16980807	18142695	44882825	283	8226											
THBD	7056	broad.mit.edu	37	chr20	23029062	23029062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggctccacacactcGccgtccaccaggtcgtagtt	9	17	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:23029062G>A	ENST00000377103.2	-	1	1316	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	360	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCACACACTCGCCGTCCACCA	0.617																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1078-1080)ggC>ggT		thrombomodulin	Drotrecogin alfa(DB00055)						69	57	61					20																	23029062		2203	4300	6503	SO:0001819	synonymous_variant	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029062G>A		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1080C>T	20.37:g.23029062G>A							p.G360G	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1316	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		360			EGF-like 3; calcium-binding (Potential).		Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	c.1080C>T	CCDS13148.1																																																																																				0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			68	350	0	0	0	1	0	68	350					A	23029062	G	A	23029062	2	1	66	1	0	0	0	0	0	0	0	1	15904	1074	38	1		1	THBD	20	23029062	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4886367	23029062	39996458	284	8227											
PXMP4	11264	broad.mit.edu	37	chr20	32295669	32295669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcccccacaccaccGcagtgagcagcgggaacggg	13	17	0	1	rs376487621		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:32295669G>A	ENST00000409299.3	-	4	574	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	161						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCACACCACCGCAGTGAGCAG	0.602																																						ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(481-483)gCg>gTg		peroxisomal membrane protein 4, 24kDa		G	VAL/ALA,	0,4406		0,0,2203	96	90	92		482,	-0.1	0	20		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	PXMP4	NM_007238.4,NM_183397.2	64,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	161/213,	32295669	1,13005	2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295669G>A	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.482C>T	20.37:g.32295669G>A	ENSP00000386385:p.Ala161Val					PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	p.A161V	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			4	574	-			161					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.482C>T	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934367	0.52866	0.0	1.16E-4	ENSG00000101417	ENST00000409299	T	0.52526	0.66	5.84	-0.0573	0.13802	.	0.250386	0.46758	D	0.000263	T	0.57873	0.2083	M	0.79011	2.435	0.80722	D	1	D	0.60160	0.987	P	0.48952	0.596	T	0.67795	-0.5578	10	0.38643	T	0.18	-5.9167	20.603	0.99464	0.0:0.6254:0.3746:0.0	.	161	Q9Y6I8	PXMP4_HUMAN	V	161	ENSP00000386385:A161V	ENSP00000386385:A161V	A	-	2	0	PXMP4	31759330	0.995000	0.38212	0.000000	0.03702	0.077000	0.17291	2.712000	0.47186	-0.204000	0.10235	0.638000	0.83543	GCG		0.602	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		8	680	0	0	0	1	0	8	680					A	32295669	G	A	32295669	3	1	66	1	0	0	0	0	1	0	0	0	12901	1087	38	1	160	1	PXMP4	20	32295669	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9266607	32295669	30729851	285	8228											
CHD6	84181	broad.mit.edu	37	chr20	40049687	40049687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcctcctcatcactgTggttctgactcaaaatcaat	4	13	6	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:40049687T>C	ENST00000373233.3	-	31	5765	c.5588A>G	c.(5587-5589)cAc>cGc	p.H1863R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ctcatcACTGTGGTTCTGACT	0.433																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5587-5589)cAc>cGc		chromodomain helicase DNA binding protein 6							87	91	90					20																	40049687		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049687T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5588A>G	20.37:g.40049687T>C	ENSP00000362330:p.His1863Arg						p.H1863R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5765	-		Myeloproliferative disorder(115;0.00425)	1863					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5588A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800657	0.31869	.	.	ENSG00000124177	ENST00000373233	D	0.85861	-2.04	5.47	3.09	0.35607	.	0.342208	0.25132	N	0.032892	T	0.73102	0.3544	L	0.27053	0.805	0.80722	D	1	B	0.20671	0.047	B	0.14023	0.01	T	0.66551	-0.5895	10	0.45353	T	0.12	-8.9998	6.7029	0.23234	0.0:0.0779:0.1533:0.7688	.	1863	Q8TD26	CHD6_HUMAN	R	1863	ENSP00000362330:H1863R	ENSP00000362330:H1863R	H	-	2	0	CHD6	39483101	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.274000	0.43390	0.924000	0.37069	0.533000	0.62120	CAC		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			189	225	0	0	0	1	0	189	225					C	40049687	T	C	40049687	3	2	66	1	0	0	0	0	1	0	0	0	3338	1696	59	4	2587	4	CHD6	20	40049687	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	7754018	40049687	22975833	286	8229											
SEMG1	6406	broad.mit.edu	37	chr20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttccacacggacaaaAgggccagcactattctggac	8	13	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	44					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(130-132)aAg>aGg		semenogelin I							114	118	117					20																	43836069		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836069A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.131A>G	20.37:g.43836069A>G	ENSP00000361867:p.Lys44Arg					SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	p.K44R	NM_003007.3	NP_002998.1					2	188	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.131A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	7.527	0.657848	0.14645	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06608	3.28;3.28	2.05	0.853	0.19001	.	.	.	.	.	T	0.05686	0.0149	L	0.45581	1.43	0.09310	N	1	B;B;B	0.27910	0.058;0.193;0.071	B;B;B	0.22152	0.022;0.036;0.038	T	0.36553	-0.9743	9	0.45353	T	0.12	.	4.1025	0.10020	0.8112:0.0:0.1888:0.0	.	44;44;44	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	R	44	ENSP00000244069:K44R;ENSP00000361867:K44R	ENSP00000244069:K44R	K	+	2	0	SEMG1	43269483	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	0.868000	0.27982	0.196000	0.20367	0.377000	0.23210	AAG		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		5	740	0	0	0	1	0	5	740					G	43836069	A	G	43836069	3	3	66	1	0	0	0	0	1	0	0	0	14094	72	3	4	137	4	SEMG1	20	43836069	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	3786382	43836069	19189451	287	8230											
C20orf106	200232	broad.mit.edu	37	chr20	55100020	55100020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatctaccagagcacacCcaaggctggcttgggagcaa	11	12	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:55100020C>T	ENST00000371328.3	+	1	479	c.156C>T	c.(154-156)acC>acT	p.T52T	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CAGAGCACACCCAAGGCTGGC	0.483																																						ENST00000371328.3																			0											c.(154-156)acC>acT		family with sequence similarity 209, member A							140	127	132					20																	55100020		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55100020C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.156C>T	20.37:g.55100020C>T						GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.T52T	NM_001012971.3	NP_001012989.2					1	479	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.156C>T	CCDS33493.1																																																																																				0.483	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			46	542	0	0	0	1	0	46	542					T	55100020	C	T	55100020	2	4	66	1	0	0	0	0	0	0	0	1	2083	610	22	2		2	C20orf106	20	55100020	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	11263951	55100020	7925500	288	8231											
APCDD1L	164284	broad.mit.edu	37	chr20	57036519	57036520	+	Frame_Shift_Ins	INS	-	-	G													ccaccagccgcccaggtgcaINSggggcagggccagagggggc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:57036519_57036520insG	ENST00000371149.3	-	4	1062_1063	c.832_833insC	c.(832-834)ctgfs	p.L278fs	APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.L289fs|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	278						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCAGGTGCAGGGGCAGGGCC	0.708																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(832-834)gcafs		adenomatosis polyposis coli down-regulated 1-like																																				SO:0001589	frameshift_variant	164284					integral to membrane		g.chr20:57036519_57036520insG	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.833dupC	20.37:g.57036523_57036523dupG	ENSP00000360191:p.Leu278fs					APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.A289fs|APCDD1L_ENST00000491015.1_5'UTR	p.A278fs	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1062_1063	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		278						Frame_Shift_Ins	INS	ENST00000371149.3	37	c.832_833insC	CCDS13467.1																																																																																				0.708	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		18	23						18	23	---	---	---	---	G	57036520	-	G	57036519	7	5	66	1	0	1	1	0	0	0	0	0	766	188	7	0	676	0	APCDD1L	20	57036519	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	1936499	57036519	5989001	289	8232											
DIDO1	11083	broad.mit.edu	37	chr20	61511303	61511303	+	Frame_Shift_Del	DEL	T	T	-													atcgcgaaggggtctgctcaTttttttcagaaaagggtgcg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:61511303delT	ENST00000266070.4	-	16	6330	c.6005delA	c.(6004-6006)aatfs	p.N2002fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2002	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCTGCTCATTTTTTTCAGA	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6004-6006)atfs		death inducer-obliterator 1							71	88	82					20																	61511303		2202	4298	6500	SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511303delT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6005delA	20.37:g.61511303delT	ENSP00000266070:p.Asn2002fs					DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6330	-	Breast(26;5.68e-08)		2002			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	c.6005delA	CCDS33506.1																																																																																				0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	1320						8	1320	---	---	---	---	-	61511303	T	-	61511303	7	5	66	1	0	1	0	1	0	0	0	0	4538	1493	52	0	721	0	DIDO1	20	61511303	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	4474784	61511303	1514217	290	8233											
TPTE	7179	broad.mit.edu	37	chr21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaatatgcaacatatctCttctgaaaagcaacagaaat	5	8	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000298232.7_Missense_Mutation_p.K373N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000361285.4_Missense_Mutation_p.K391N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	431	1	0	0.00116845	1	0.00119002	6	431					A	10916473	C	A	10916473	3	1	66	1	0	0	0	0	1	0	0	0	16483	912	32	3	502	3	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		10916473	37213422	291	8234											
COMT	1312	broad.mit.edu	37	chr22	19956208	19956208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatacagggaggtggtggaCggcctggagaaggccatcta	17	7	1	1	rs201893998		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:19956208C>T	ENST00000361682.6	+	6	1147	c.765C>T	c.(763-765)gaC>gaT	p.D255D	COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000403710.1_Silent_p.D255D|COMT_ENST00000449653.1_Silent_p.D205D|COMT_ENST00000407537.1_Silent_p.D205D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	255					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	AGGTGGTGGACGGCCTGGAGA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15485	0.0		0.0	False		,,,				2504	0.0					ENST00000361682.6																			0				kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5						c.(763-765)gaC>gaT		catechol-O-methyltransferase	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						75	63	67					22																	19956208		2203	4300	6503	SO:0001819	synonymous_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19956208C>T		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.765C>T	22.37:g.19956208C>T						COMT_ENST00000407537.1_Silent_p.D205D|COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000449653.1_Silent_p.D205D|COMT_ENST00000403710.1_Silent_p.D255D	p.D255D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN			6	1147	+	Colorectal(54;0.0993)		255					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	c.765C>T	CCDS13770.1																																																																																				0.647	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		6	288	0	0	0	1	0	6	288					T	19956208	C	T	19956208	2	4	66	1	0	0	0	0	0	0	0	1	3734	535	19	1		1	COMT	22	19956208	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		19956208	31348358	292	8235											
KLHL22	84861	broad.mit.edu	37	chr22	20800871	20800871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgttgctgcctggatcGtagcagtgtgtctctttcag	12	9	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:20800871G>A	ENST00000328879.4	-	6	1554	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	KLHL22_ENST00000440659.2_Silent_p.Y323Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	466					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCCTGGATCGTAGCAGTGTG	0.612																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1396-1398)taC>taT		kelch-like family member 22							245	189	208					22																	20800871		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800871G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1398C>T	22.37:g.20800871G>A						KLHL22_ENST00000440659.2_Silent_p.Y323Y	p.Y466Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1554	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	466					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1398C>T	CCDS13780.1																																																																																				0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		5	661	0	0	0	1	0	5	661					A	20800871	G	A	20800871	2	1	66	1	0	0	0	0	0	0	0	1	8407	1140	40	1		1	KLHL22	22	20800871	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	844663	20800871	30503695	293	8236											
TRIOBP	11078	broad.mit.edu	37	chr22	38120470	38120472	+	In_Frame_Del	DEL	CCT	CCT	-													ccagcgggacaatcccagagCctcctctcccaacagaacca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:38120470_38120472delCCT	ENST00000406386.3	+	7	2162_2164	c.1907_1909delCCT	c.(1906-1911)gcctcc>gcc	p.S638del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	638					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.586																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1906-1911)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120470_38120472delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1907_1909delCCT	22.37:g.38120473_38120475delCCT	ENSP00000384312:p.Ser638del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS636del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2162_2164	+	Melanoma(58;0.0574)		636					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1907_1909delCCT	CCDS43015.1																																																																																				0.586	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	721						8	721	---	---	---	---	-	38120472	CCT	-	38120470	7	5	66	1	0	1	0	1	0	0	0	0	16606	739	26	0	1925	0	TRIOBP	22	38120470	In_Frame_Del	DEL	CCT	TCGA-HV-A7OP-01A-11D-A33T-08	17319599	38120470	13184096	294	8237											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621925	41621925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcagaagaatgacaTtgagctcacaccgccaaaag	8	11	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:41621925T>C	ENST00000216237.5	+	12	1642	c.1484T>C	c.(1483-1485)aTt>aCt	p.I495T		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	495					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAATGACATTGAGCTCACA	0.602																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1483-1485)aTt>aCt		l(3)mbt-like 2 (Drosophila)							91	67	75					22																	41621925		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621925T>C	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1484T>C	22.37:g.41621925T>C	ENSP00000216237:p.Ile495Thr						p.I495T	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			12	1642	+			495					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1484T>C	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501313	0.85176	.	.	ENSG00000100395	ENST00000216237	T	0.43688	0.94	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.69143	-0.5223	10	0.40728	T	0.16	.	14.782	0.69774	0.0:0.0:0.0:1.0	.	495;495	Q969R5-3;Q969R5	.;LMBL2_HUMAN	T	495	ENSP00000216237:I495T	ENSP00000216237:I495T	I	+	2	0	L3MBTL2	39951871	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.840000	0.86819	1.897000	0.54924	0.459000	0.35465	ATT		0.602	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		100	157	0	0	0	1	0	100	157					C	41621925	T	C	41621925	3	2	66	1	0	0	0	0	1	0	0	0	8623	1493	52	4	1530	4	L3MBTL2	22	41621925	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	3501455	41621925	9682641	295	8238											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		10	458						10	458	---	---	---	---	-	54011407	CTC	-	54011405	7	5	66	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-HV-A7OP-01A-11D-A33T-08		54011405	101259155	296	8239											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		10	590						10	590	---	---	---	---	-	102004421	GAG	-	102004419	7	5	66	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-HV-A7OP-01A-11D-A33T-08	47993014	102004419	53266141	297	8240											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		10	994						10	994	---	---	---	---	C	107977803	-	C	107977802	7	5	66	1	0	1	1	0	0	0	0	0	7872	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	5973383	107977802	47292758	298	8241											
FAM70A	55026	broad.mit.edu	37	chrX	119425154	119425154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatggcacaacaaaaagcCgcaatcacaccaaagctgat	6	12	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:119425154C>T	ENST00000309720.5	-	4	429	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM255A_ENST00000371369.4_Silent_p.A102A|TMEM255A_ENST00000440464.1_Silent_p.A102A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	102						integral component of membrane (GO:0016021)											AACAAAAAGCCGCAATCACAC	0.468																																						ENST00000371369.4																			0											c.(304-306)gcG>gcA		transmembrane protein 255A							84	60	68					X																	119425154		2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119425154C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.306G>A	X.37:g.119425154C>T						TMEM255A_ENST00000440464.1_Silent_p.A102A|TMEM255A_ENST00000309720.5_Silent_p.A102A	p.A102A	NM_001104544.1	NP_001098014.1					4	532	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.306G>A	CCDS14597.1																																																																																				0.468	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		68	14	0	0	0	1	0	68	14					T	119425154	C	T	119425154	2	4	66	1	0	0	0	0	0	0	0	1	5630	639	23	1		1	FAM70A	23	119425154	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	11447352	119425154	35845406	299	8242											
F9	2158	broad.mit.edu	37	chrX	138643810	138643810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcccttctggaactggaCgaacccttagtgctaaacag	9	11	1	0	rs373107855		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(964-966)gaC>gaT		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	C		0,3835		0,0,0,1632,571	214	181	192		966	-6.8	0	X		192	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		322/462	138643810	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643810C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.966C>T	X.37:g.138643810C>T						F9_ENST00000394090.2_Silent_p.D284D	p.D322D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	973	+	Acute lymphoblastic leukemia(192;0.000127)		322			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.966C>T	CCDS14666.1																																																																																				0.408	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			302	35	0	0	0	1	0	302	35					T	138643810	C	T	138643810	2	4	66	1	0	0	0	0	0	0	0	1	5372	535	19	1		1	F9	23	138643810	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	19218656	138643810	16626750	300	8243											
AADACL3	126767	broad.mit.edu	37	chr1	12785321	12785321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtctgcggtgacagtttCggaggggcaatagccgcagt	17	8	1	1	rs370572357		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:12785321C>T	ENST00000359318.5	+	4	616	c.411C>T	c.(409-411)ttC>ttT	p.F137F	AADACL3_ENST00000332530.3_Silent_p.F67F	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	137							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGTTTCGGAGGGGCAA	0.572																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(199-201)ttC>ttT		arylacetamide deacetylase-like 3		C	,	1,3889		0,1,1944	89	93	92		201,411	-2.5	0	1		92	1,8287		0,1,4143	no	coding-synonymous,coding-synonymous	AADACL3	NM_001103169.1,NM_001103170.1	,	0,2,6087	TT,TC,CC		0.0121,0.0257,0.0164	,	67/281,137/351	12785321	2,12176	1945	4144	6089	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785321C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.411C>T	1.37:g.12785321C>T						AADACL3_ENST00000359318.5_Silent_p.F137F	p.F67F	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	427	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	137					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.201C>T	CCDS41253.1																																																																																				0.572	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		31	355	0	0	0	1	0	31	355					T	12785321	C	T	12785321	2	4	67	1	0	0	0	0	0	0	0	1	12	883	31	1		1	AADACL3	1	12785321	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		12785321	236465300	1	8244											
UBR4	23352	broad.mit.edu	37	chr1	19488970	19488970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcctccacccagtctgAgtctacttcaatggcccgct	6	17	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:19488970A>G	ENST00000375254.3	-	35	4927	c.4900T>C	c.(4900-4902)Tca>Cca	p.S1634P	UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375267.2_Missense_Mutation_p.S1634P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1634					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCCAGTCTGAGTCTACTTCA	0.507																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4900-4902)Tca>Cca		ubiquitin protein ligase E3 component n-recognin 4							130	119	122					1																	19488970		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488970A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4900T>C	1.37:g.19488970A>G	ENSP00000364403:p.Ser1634Pro					UBR4_ENST00000375254.3_Missense_Mutation_p.S1634P|UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P	p.S1634P			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4903	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1634					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4900T>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746021	0.89663	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.75488	0.3856	L	0.39898	1.24	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.76887	-0.2793	10	0.62326	D	0.03	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1634	Q5T4S7	UBR4_HUMAN	P	1634;1634;1634;1634;344;850	ENSP00000364403:S1634P;ENSP00000364416:S1634P;ENSP00000364365:S1634P;ENSP00000364374:S1634P	ENSP00000364365:S1634P	S	-	1	0	UBR4	19361557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.904000	0.92590	2.333000	0.79357	0.482000	0.46254	TCA		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		56	573	0	0	0	1	0	56	573					G	19488970	A	G	19488970	3	3	67	1	0	0	0	0	1	0	0	0	16958	304	11	4	10939	4	UBR4	1	19488970	Missense_Mutation	SNP	A	TCGA-HV-AA8V-01A-11D-A40W-08	6703649	19488970	229761651	2	8245											
SFRS11	9295	broad.mit.edu	37	chr1	70687376	70687377	+	Frame_Shift_Ins	INS	-	-	G													cgggccccagcggcgggcccINSggtggcggaggtggtggtgg							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:70687376_70687377insG	ENST00000370950.3	+	2	139_140	c.57_58insG	c.(58-60)ggtfs	p.G20fs	SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G20fs|RP4-677H15.4_ENST00000422107.1_RNA|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G20fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	20	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P19P(1)		large_intestine(3)|ovary(2)|skin(1)	6						GCGGCGGGCCcggtggcggagg	0.649																																						ENST00000370950.3																			1	Substitution - coding silent(1)	p.P19P(1)	lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(55-60)ccgtggfs		serine/arginine-rich splicing factor 11																																				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687376_70687377insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.59dupG	1.37:g.70687378_70687378dupG	ENSP00000359988:p.Gly20fs					SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs	p.W20fs			Q05519	SRS11_HUMAN			2	139_140	+			20			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.57_58insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		8	643						8	643	---	---	---	---	G	70687377	-	G	70687376	7	5	67	1	0	1	1	0	0	0	0	0	14216	639	23	0	59	0	SFRS11	1	70687376	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	51198406	70687376	178563245	3	8246											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	905						7	905	---	---	---	---	-	74957826	CTT	-	74957824	6	5	67	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-HV-AA8V-01A-11D-A40W-08	4270448	74957824	174292797	4	8247											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		8	771	0	0	0	1	0	8	771					A	144825409	G	A	144825409	3	1	67	1	0	0	0	0	1	0	0	0	10241	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	69867585	144825409	104425212	5	8248	56	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		8	809	1	0	0.000274275	1	0.000290012	8	809					T	144825416	G	T	144825416	3	4	67	1	0	0	0	0	1	0	0	0	10241	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	7	144825416	104425205	6	8249	56	2									
FLG	2312	broad.mit.edu	37	chr1	152285654	152285654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcatttcgtgtttGtctgcttgcacttctggatc	8	10	3	0	rs192402912	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:152285654G>T	ENST00000368799.1	-	3	1743	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	570	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)			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)			TTTCGTGTTTGTCTGCTTGCA	0.537									Ichthyosis				-|||	2	0.000399361	0.0	0.0	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.002					ENST00000368799.1																			0				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						c.(1708-1710)Caa>Aaa		filaggrin							432	406	415					1																	152285654		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.chr1:152285654G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1708C>A	1.37:g.152285654G>T	ENSP00000357789:p.Gln570Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q570K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		570			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1708C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.12	1.262635	0.23051	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03607	3.87	2.91	-0.732	0.11147	.	.	.	.	.	T	0.01730	0.0055	M	0.67953	2.075	0.09310	N	1	P	0.50443	0.935	P	0.52066	0.689	T	0.26189	-1.0110	9	0.06757	T	0.87	.	2.1593	0.03820	0.3561:0.0:0.3974:0.2465	.	570	P20930	FILA_HUMAN	K	570;102	ENSP00000357789:Q570K	ENSP00000357789:Q570K	Q	-	1	0	FLG	150552278	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.634000	0.24614	-0.294000	0.08973	0.603000	0.83216	CAA		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	1568	1	0	7.48243e-07	1	8.17994e-07	10	1568					T	152285654	G	T	152285654	3	4	67	1	0	0	0	0	1	0	0	0	5947	1386	48	3	10481	3	FLG	1	152285654	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	7460238	152285654	96964967	7	8250											
ADCY10	55811	broad.mit.edu	37	chr1	167802257	167802257	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcttgggcctgccgattCacataatgaaagtgtctgtt	9	10	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:167802257C>A	ENST00000367851.4	-	25	3745	c.3561G>T	c.(3559-3561)gtG>gtT	p.V1187V	ADCY10_ENST00000545172.1_Silent_p.V1034V|ADCY10_ENST00000367848.1_Silent_p.V1095V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1187					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTGCCGATTCACATAATGAA	0.488																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3283-3285)gtG>gtT		adenylate cyclase 10 (soluble)							147	150	149					1																	167802257		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802257C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3561G>T	1.37:g.167802257C>A						ADCY10_ENST00000545172.1_Silent_p.V1034V|ADCY10_ENST00000367851.4_Silent_p.V1187V|ADCY10_ENST00000485964.1_5'UTR	p.V1095V			Q96PN6	ADCYA_HUMAN			25	3782	-			1187					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3285G>T	CCDS1265.1																																																																																				0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		46	605	1	0	1.86633e-21	1	2.13059e-21	46	605					A	167802257	C	A	167802257	2	1	67	1	0	0	0	0	0	0	0	1	293	813	29	3		3	ADCY10	1	167802257	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	15516603	167802257	81448364	8	8251											
RAB7L1	8934	broad.mit.edu	37	chr1	205741648	205741648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcccacagctgaagccGcactatctcgtagtcagacc	7	14	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:205741648G>A	ENST00000367139.3	-	3	475	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		58					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTGAAGCCGCACTATCTCG	0.373																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(172-174)Cgg>Tgg		RAB7, member RAS oncogene family-like 1							156	169	165					1																	205741648		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741648G>A																												ENST00000367139.3:c.172C>T	1.37:g.205741648G>A	ENSP00000356107:p.Arg58Trp					RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron	p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	475	-	Breast(84;0.0799)		58					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.172C>T	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098539	0.56183	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	3.31	0.37934	Small GTP-binding protein domain (1);	0.061028	0.64402	D	0.000015	D	0.89312	0.6679	M	0.91972	3.26	0.35934	D	0.83274	D	0.89917	1.0	D	0.85130	0.997	D	0.93256	0.6639	10	0.87932	D	0	-4.8893	12.3176	0.54966	0.0:0.0:0.5651:0.4349	.	58	O14966	RAB7L_HUMAN	W	58	ENSP00000356107:R58W;ENSP00000235932:R58W;ENSP00000402910:R58W	ENSP00000235932:R58W	R	-	1	2	RAB7L1	204008271	0.999000	0.42202	0.998000	0.56505	0.499000	0.33736	2.116000	0.41930	1.202000	0.43218	0.561000	0.74099	CGG		0.373	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			7	887	0	0	0	1	0	7	887					A	205741648	G	A	205741648	3	1	67	1	0	0	0	0	1	0	0	0	13005	1086	38	1	455	1	RAB7L1	1	205741648	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	37939391	205741648	43508973	9	8252											
MAP4K3	8491	broad.mit.edu	37	chr2	39526942	39526942	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccatattccagttgcagatCctaatagtacaaaataaaat	4	8	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:39526942C>A	ENST00000263881.3	-	16	1444	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	MAP4K3_ENST00000437545.1_Splice_Site_p.D290Y|MAP4K3_ENST00000341681.5_Splice_Site_p.D353Y|MAP4K3_ENST00000536018.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	374					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTTGCAGATCCTAATAGTAC	0.264																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e16-1		mitogen-activated protein kinase kinase kinase kinase 3							34	37	36					2																	39526942		2200	4277	6477	SO:0001630	splice_region_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39526942C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1120-1G>T	2.37:g.39526942C>A						MAP4K3_ENST00000341681.5_Splice_Site_p.D353_splice|MAP4K3_ENST00000437545.1_Splice_Site_p.D290_splice|MAP4K3_ENST00000536018.1_5'UTR	p.D374_splice	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			16	1444	-		all_hematologic(82;0.211)	374					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Splice_Site	SNP	ENST00000263881.3	37	c.1119_splice	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242524	0.39598	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.15952	2.38;2.38;2.38	5.49	5.49	0.81192	Protein kinase-like domain (1);	0.149260	0.64402	D	0.000018	T	0.14700	0.0355	L	0.28274	0.84	0.80722	D	1	B;B	0.17465	0.001;0.022	B;B	0.10450	0.002;0.005	T	0.09640	-1.0665	9	.	.	.	.	19.3536	0.94401	0.0:1.0:0.0:0.0	.	353;374	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	374;290;353	ENSP00000263881:D374Y;ENSP00000416958:D290Y;ENSP00000345434:D353Y	.	D	-	1	0	MAP4K3	39380446	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.208000	0.72165	2.578000	0.87016	0.313000	0.20887	GAT		0.264	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Missense_Mutation	17	191	1	0	3.52763e-06	1	3.82407e-06	17	191					A	39526942	C	A	39526942	5	1	67	1	0	0	0	0	0	0	1	0	9302	869	30	3	1640	3	MAP4K3	2	39526942	Splice_Site	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		39526942	203672431	10	8253											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1038	0	0	0	1	0	7	1038					T	109371685	A	T	109371685	3	4	67	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-HV-AA8V-01A-11D-A40W-08	69844743	109371685	133827688	11	8254											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		10	269						10	269	---	---	---	---	-	128046946	TCT	-	128046944	7	5	67	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-HV-AA8V-01A-11D-A40W-08	18675259	128046944	115152429	12	8255											
FZD7	8324	broad.mit.edu	37	chr2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacctggtggacatgCggcgcttcagctacccagag	11	14	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	280					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(838-840)Cgg>Tgg		frizzled family receptor 7							116	117	117					2																	202900208		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900208C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.838C>T	2.37:g.202900208C>T	ENSP00000286201:p.Arg280Trp		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R280W	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	899	+			280					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.838C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097608	0.56075	.	.	ENSG00000155760	ENST00000286201	D	0.82893	-1.66	5.13	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.71036	2.16	0.58432	D	0.999994	D	0.76494	0.999	P	0.61658	0.892	D	0.89101	0.3489	10	0.72032	D	0.01	.	14.0995	0.65046	0.2941:0.7059:0.0:0.0	.	280	O75084	FZD7_HUMAN	W	280	ENSP00000286201:R280W	ENSP00000286201:R280W	R	+	1	2	FZD7	202608453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.396000	0.34531	0.677000	0.31305	0.563000	0.77884	CGG		0.662	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		7	993	0	0	0	1	0	7	993					T	202900208	C	T	202900208	3	4	67	1	0	0	0	0	1	0	0	0	6162	759	27	1	840	1	FZD7	2	202900208	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	74853264	202900208	40299165	13	8256											
ABCB6	10058	broad.mit.edu	37	chr2	220078577	220078577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagtgacaaagtatgCgcaaagcagggagccggcga	14	10	1	1	rs532805022		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:220078577C>T	ENST00000265316.3	-	9	1865	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	517	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAAGTATGCGCAAAGCAGG	0.562													c|||	1	0.000199681	0.0	0.0	5008	,	,		18603	0.001		0.0	False		,,,				2504	0.0					ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1549-1551)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 6							125	148	140					2																	220078577		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078577C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1549G>A	2.37:g.220078577C>T	ENSP00000265316:p.Ala517Thr					ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	p.A517T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1865	-		Renal(207;0.0474)	517			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1549G>A	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767470	0.96914	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94537	-3.45;-2.47	5.02	5.02	0.67125	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	0.96531	0.8868	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	D	0.96286	0.9210	10	0.45353	T	0.12	-10.3134	17.9575	0.89074	0.0:1.0:0.0:0.0	.	471;517	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	T	517;471	ENSP00000265316:A517T;ENSP00000394333:A471T	ENSP00000265316:A517T	A	-	1	0	ABCB6	219786821	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	7.678000	0.84035	2.331000	0.79229	0.591000	0.81541	GCA		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		8	1321	0	0	0	1	0	8	1321					T	220078577	C	T	220078577	3	4	67	1	0	0	0	0	1	0	0	0	45	768	27	1	1023	1	ABCB6	2	220078577	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	17178369	220078577	23120796	14	8257											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	282						8	282	---	---	---	---	-	227660810	GCT	-	227660808	7	5	67	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-HV-AA8V-01A-11D-A40W-08	7582231	227660808	15538565	15	8258											
IRS1	3667	broad.mit.edu	37	chr2	227660886	227660886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggacagcctcgtgggccGggccaggcggctattggtct	17	12	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:227660886G>A	ENST00000305123.5	-	1	3589	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	857					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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2569-2571)Cgg>Tgg		insulin receptor substrate 1							32	42	39					2																	227660886		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660886G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2569C>T	2.37:g.227660886G>A	ENSP00000304895:p.Arg857Trp						p.R857W	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3589	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	857						Missense_Mutation	SNP	ENST00000305123.5	37	c.2569C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025202	0.54683	.	.	ENSG00000169047	ENST00000305123	D	0.85484	-1.99	4.96	4.06	0.47325	.	0.000000	0.64402	D	0.000004	D	0.89301	0.6676	L	0.49126	1.545	0.39337	D	0.965517	D	0.89917	1.0	D	0.91635	0.999	D	0.90424	0.4419	10	0.87932	D	0	-13.9538	12.3313	0.55041	0.0:0.0:0.568:0.432	.	857	P35568	IRS1_HUMAN	W	857	ENSP00000304895:R857W	ENSP00000304895:R857W	R	-	1	2	IRS1	227369130	0.995000	0.38212	0.900000	0.35374	0.934000	0.57294	1.962000	0.40442	1.269000	0.44280	0.650000	0.86243	CGG		0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		33	274	0	0	0	1	0	33	274					A	227660886	G	A	227660886	3	1	67	1	0	0	0	0	1	0	0	0	7870	1115	39	1	1163	1	IRS1	2	227660886	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	78	227660886	15538487	16	8259											
HJURP	55355	broad.mit.edu	37	chr2	234749480	234749480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagttgagcccagtagaCtttttctgcaccccaggggt	11	11	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:234749480C>A	ENST00000411486.2	-	8	2011	c.1946G>T	c.(1945-1947)aGt>aTt	p.S649I	HJURP_ENST00000441687.1_Missense_Mutation_p.S564I|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.S595I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	649					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCCCAGTAGACTTTTTCTGCA	0.488																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1945-1947)aGt>aTt		Holliday junction recognition protein							91	94	93					2																	234749480		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749480C>A		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1946G>T	2.37:g.234749480C>A	ENSP00000414109:p.Ser649Ile					HJURP_ENST00000432087.1_Missense_Mutation_p.S595I|HJURP_ENST00000441687.1_Missense_Mutation_p.S564I	p.S649I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	2011	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	649					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.1946G>T	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144038	0.37825	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.11385	3.13;3.13;3.13;2.78	4.28	2.41	0.29592	.	0.821288	0.10885	N	0.623347	T	0.08670	0.0215	L	0.44542	1.39	0.09310	N	1	P;P;P	0.37955	0.612;0.612;0.478	B;B;B	0.33750	0.169;0.169;0.081	T	0.28650	-1.0037	10	0.42905	T	0.14	-0.0459	5.1147	0.14829	0.2129:0.6805:0.0:0.1066	.	564;595;649	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	649;595;564;564	ENSP00000414109:S649I;ENSP00000407208:S595I;ENSP00000401944:S564I;ENSP00000393253:S564I	ENSP00000414109:S649I	S	-	2	0	HJURP	234414219	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.131000	0.15870	0.696000	0.31696	0.563000	0.77884	AGT		0.488	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		24	360	1	0	7.92952e-12	1	8.81818e-12	24	360					A	234749480	C	A	234749480	3	1	67	1	0	0	0	0	1	0	0	0	7219	565	20	3	308	3	HJURP	2	234749480	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	7088594	234749480	8449893	17	8260											
CNTN4	152330	broad.mit.edu	37	chr3	3084848	3084848	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacaacccgaaagccacGtaagaacagacttgctcaga	9	11	1	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:3084848G>A	ENST00000397461.1	+	21	3082		c.e21+1		CNTN4_ENST00000418658.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4						axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGAAAGCCACGTAAGAACAGA	0.428																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e21+1		contactin 4							60	61	61					3																	3084848		2203	4300	6503	SO:0001630	splice_region_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084848G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2698+1G>A	3.37:g.3084848G>A						CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA		NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	3082	+		Ovarian(110;0.156)						B2RAX3|Q8IX14|Q8TC35	Splice_Site	SNP	ENST00000397461.1	37		CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400540	0.83120	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1349	0.93424	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN4	3059848	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.585000	0.98223	2.606000	0.88127	0.655000	0.94253	.		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Intron	11	164	0	0	0	1	0	11	164					A	3084848	G	A	3084848	5	1	67	1	0	0	0	0	0	0	1	0	3652	1159	40	1	2773	1	CNTN4	3	3084848	Splice_Site	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		3084848	194937582	18	8261											
SACM1L	22908	broad.mit.edu	37	chr3	45751115	45751115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaacactagtcctgaattCcaagaaatgagtctcttgga	7	10	1	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:45751115C>T	ENST00000389061.5	+	5	663	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000418611.1_Silent_p.F50F|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	153	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTGAATTCCAAGAAATGA	0.343																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(457-459)ttC>ttT		SAC1 suppressor of actin mutations 1-like (yeast)							89	84	85					3																	45751115		2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45751115C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.459C>T	3.37:g.45751115C>T						SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000418611.1_Silent_p.F50F|SACM1L_ENST00000464524.1_3'UTR	p.F153F	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	5	663	+			153			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	c.459C>T	CCDS33745.1																																																																																				0.343	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		22	246	0	0	0	1	0	22	246					T	45751115	C	T	45751115	2	4	67	1	0	0	0	0	0	0	0	1	13853	854	30	2		2	SACM1L	3	45751115	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	42666267	45751115	152271315	19	8262											
CACNA1D	776	broad.mit.edu	37	chr3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgctgccctggccGcagaggaccccatccgcagc	13	17	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	905					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2773-2775)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84	71	76					3																	53769492		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769492G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2713G>A	3.37:g.53769492G>A	ENSP00000288133:p.Ala905Thr					CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T	p.A925T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2891	+			905					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2773G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	333	0	0	0	1	0	5	333					A	53769492	G	A	53769492	3	1	67	1	0	0	0	0	1	0	0	0	2548	1087	38	1	2963	1	CACNA1D	3	53769492	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	8018377	53769492	144252938	20	8263											
GATA2	2624	broad.mit.edu	37	chr3	128199973	128199973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggagtggctgaagggCgggaggtggcccacaggtgc	20	9	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:128199973C>T	ENST00000341105.2	-	6	1663	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	GATA2_ENST00000430265.2_Silent_p.P430P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P444P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	444					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.P444P(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)		GGCTGAAGGGCGGGAGGTGGC	0.657			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - coding silent(1)	p.P444P(1)	lung(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						c.(1330-1332)ccG>ccA		GATA binding protein 2							97	87	91					3																	128199973		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.chr3:128199973C>T	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.1332G>A	3.37:g.128199973C>T						GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000430265.2_Silent_p.P430P|GATA2_ENST00000489987.1_5'UTR	p.P444P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1663	-			444					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1332G>A	CCDS3049.1																																																																																				0.657	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		21	216	0	0	0	1	0	21	216					T	128199973	C	T	128199973	2	4	67	1	0	0	0	0	0	0	0	1	6282	755	27	1		1	GATA2	3	128199973	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	74430481	128199973	69822457	21	8264											
LRRIQ4	344657	broad.mit.edu	37	chr3	169550783	169550783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatcttttcagctttgaaaGaattacggctggaggacaac	9	7	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:169550783G>A	ENST00000340806.6	+	4	1342	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	448										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGCTTTGAAAGAATTACGGCT	0.403																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1342-1344)Gaa>Aaa		leucine-rich repeats and IQ motif containing 4							60	59	59					3																	169550783		1836	4090	5926	SO:0001583	missense	344657							g.chr3:169550783G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1342G>A	3.37:g.169550783G>A	ENSP00000342188:p.Glu448Lys						p.E448K	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			4	1342	+			448						Missense_Mutation	SNP	ENST00000340806.6	37	c.1342G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	6.345	0.431770	0.12045	.	.	ENSG00000188306	ENST00000340806	T	0.57907	0.37	5.56	2.35	0.29111	.	0.249318	0.33180	N	0.005186	T	0.26484	0.0647	N	0.12663	0.25	0.28781	N	0.899839	B	0.18310	0.027	B	0.26310	0.068	T	0.11518	-1.0584	10	0.13108	T	0.6	.	2.8532	0.05564	0.3803:0.2331:0.3866:0.0	.	448	A6NIV6	LRIQ4_HUMAN	K	448	ENSP00000342188:E448K	ENSP00000342188:E448K	E	+	1	0	LRRIQ4	171033477	0.998000	0.40836	0.994000	0.49952	0.597000	0.36814	0.850000	0.27737	0.691000	0.31592	0.561000	0.74099	GAA		0.403	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		18	197	0	0	0	1	0	18	197					A	169550783	G	A	169550783	3	1	67	1	0	0	0	0	1	0	0	0	9069	943	33	2	1356	2	LRRIQ4	3	169550783	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	41350810	169550783	28471647	22	8265											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	6	10	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423																																						ENST00000317096.4																			1	Substitution - coding silent(1)	p.Y348Y(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		presenilin associated, rhomboid-like							123	127	126					3																	183547482		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547482G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A						PARL_ENST00000435888.1_Silent_p.Y264Y|PARL_ENST00000311101.5_Silent_p.Y298Y	p.Y348Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1104	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		348					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1044C>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		6	699	0	0	0	1	0	6	699					A	183547482	G	A	183547482	2	1	67	1	0	0	0	0	0	0	0	1	11493	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	13996699	183547482	14474948	23	8266											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		7	748						7	748	---	---	---	---	-	946207	TG	-	946206	7	5	67	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-HV-AA8V-01A-11D-A40W-08		946206	190208070	24	8267											
PHOX2B	8929	broad.mit.edu	37	chr4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-													ccgcagccaggcctccagctGccgccgctgccgctgccgcc					rs543135182|rs574093401|rs17884724|rs17879189	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENST00000226382.2	-	3	1115_1135	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)gcggcggcagcggcagcggcggca>gca	p.252_259AAAAAAAA>A	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252	Poly-Ala.		Missing. {ECO:0000269|PubMed:14566559}.		autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.819			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"Mis, F"	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(754-777)gca>gc		paired-like homeobox 2b				83,591		33,17,287						1.9	0		dbSNP_124	4	17,2419		3,11,1204	no	coding	PHOX2B	NM_003924.3		36,28,1491	A1A1,A1R,RR		0.6979,12.3145,3.2154				100,3010				SO:0001651	inframe_deletion	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.756_776delGGCGGCAGCGGCAGCGGCGGC	4.37:g.41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENSP00000226382:p.Ala252_Ala258del						p.AAAAAAAA252del	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			3	1115_1135	-			252			Poly-Ala.		Q6PJD9	In_Frame_Del	DEL	ENST00000226382.2	37	c.756_776delGGCGGCAGCGGCAGCGGCGGC	CCDS3463.1																																																																																				0.819	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			8	27						8	27	---	---	---	---	-	41748013	GCCGCCGCTGCCGCTGCCGCC	-	41747993	7	5	67	1	0	1	0	1	0	0	0	0	11901	1319	46	0	172	0	PHOX2B	4	41747993	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	TCGA-HV-AA8V-01A-11D-A40W-08	40801787	41747993	149406283	25	8268											
UGT2B15	7367	broad.mit.edu	37	chr4	69416515	69416515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgttatcatgttgatccGcaaacaagggaatgcccacc	8	11	1	1	rs377204498		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:69416515G>A	ENST00000317746.2	-	5	1235	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATGTTGATCCGCAAACAAGGG	0.463																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1192-1194)gCg>gTg		UDP glucuronosyltransferase 2 family, polypeptide B17							122	96	105					4																	69416515		2102	3970	6072	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416515G>A	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1193C>T	4.37:g.69416515G>A	ENSP00000320401:p.Ala398Val						p.A398V	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1235	-			398						Missense_Mutation	SNP	ENST00000317746.2	37	c.1193C>T	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	G	3.193	-0.165490	0.06461	.	.	ENSG00000197888	ENST00000317746	T	0.62364	0.03	2.7	-0.991	0.10235	.	0.163682	0.38436	U	0.001681	T	0.65249	0.2673	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.63453	-0.6634	8	0.72032	D	0.01	.	11.3198	0.49415	0.0:0.5198:0.4802:0.0	.	.	.	.	V	398	ENSP00000320401:A398V	ENSP00000320401:A398V	A	-	2	0	UGT2B17	69099110	0.000000	0.05858	0.108000	0.21378	0.078000	0.17371	-1.423000	0.02450	-0.100000	0.12241	0.393000	0.25936	GCG		0.463	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		7	857	0	0	0	1	0	7	857					A	69416515	G	A	69416515	3	1	67	1	0	0	0	0	1	0	0	0	17012	1087	38	1	407	1	UGT2B15	4	69416515	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	27668522	69416515	121737761	26	8269											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		9	237						9	237	---	---	---	---	A	89381266	-	A	89381265	7	5	67	1	0	1	1	0	0	0	0	0	7091	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	19964750	89381265	101773011	27	8270											
C4orf17	84103	broad.mit.edu	37	chr4	100460359	100460359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgattcattctgagcttgCcgagataaacctgttaactc	7	9	2	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:100460359C>T	ENST00000326581.4	+	7	1030	c.668C>T	c.(667-669)gCc>gTc	p.A223V	C4orf17_ENST00000514652.1_Missense_Mutation_p.A223V	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	223								p.A223V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCTGAGCTTGCCGAGATAAAC	0.433																																						ENST00000514652.1																			1	Substitution - Missense(1)	p.A223V(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(667-669)gCc>gTc		chromosome 4 open reading frame 17							141	148	146					4																	100460359		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100460359C>T	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.668C>T	4.37:g.100460359C>T	ENSP00000322582:p.Ala223Val					C4orf17_ENST00000326581.4_Missense_Mutation_p.A223V	p.A223V			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	7	1022	+			223					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.668C>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203325	0.58234	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.29655	1.56;1.56	5.09	5.09	0.68999	.	0.746276	0.12503	N	0.463172	T	0.43523	0.1251	M	0.73962	2.25	0.31836	N	0.624062	P	0.40180	0.705	B	0.44044	0.439	T	0.55418	-0.8144	10	0.72032	D	0.01	-5.7421	13.8612	0.63561	0.0:1.0:0.0:0.0	.	223	Q53FE4	CD017_HUMAN	V	223	ENSP00000322582:A223V;ENSP00000427663:A223V	ENSP00000322582:A223V	A	+	2	0	C4orf17	100679382	0.942000	0.31987	0.977000	0.42913	0.556000	0.35491	1.367000	0.34204	2.653000	0.90120	0.655000	0.94253	GCC		0.433	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		6	962	0	0	0	1	0	6	962					T	100460359	C	T	100460359	3	4	67	1	0	0	0	0	1	0	0	0	2259	739	26	2	690	2	C4orf17	4	100460359	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	11079094	100460359	90693917	28	8271											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	1194	0	0	0	1	0	8	1194					A	186544317	G	A	186544317	3	1	67	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	86083958	186544317	4609959	29	8272											
SDHA	6389	broad.mit.edu	37	chr5	236619	236619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcctgtgcctcggTacatggtgccaaccgcctcg	14	15	0	0	rs201741295	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1336-1338)gTa>gCa		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						75	69	71					5																	236619		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236619T>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1337T>C	5.37:g.236619T>C	ENSP00000264932:p.Val446Ala					SDHA_ENST00000510361.1_Missense_Mutation_p.V398A|SDHA_ENST00000504309.1_Missense_Mutation_p.V446A	p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1452	+			446					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1337T>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.628443	0.67015	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72835	-0.69;-0.69;-0.69	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.079100	0.50627	U	0.000109	D	0.85737	0.5766	M	0.89904	3.07	0.80722	D	1	P;D;D;P;D	0.76494	0.828;0.979;0.999;0.952;0.99	P;D;D;P;D	0.72982	0.654;0.936;0.979;0.863;0.909	D	0.88385	0.3004	10	0.66056	D	0.02	.	12.9547	0.58421	0.0:0.0:0.0:1.0	.	398;446;40;446;446	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	A	446;301;446;398	ENSP00000264932:V446A;ENSP00000426514:V446A;ENSP00000427703:V398A	ENSP00000264932:V446A	V	+	2	0	SDHA	289619	1.000000	0.71417	0.973000	0.42090	0.144000	0.21451	5.998000	0.70653	2.009000	0.58944	0.528000	0.53228	GTA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		6	341	0	0	0	1	0	6	341					C	236619	T	C	236619	3	2	67	1	0	0	0	0	1	0	0	0	14013	1638	57	4	1375	4	SDHA	5	236619	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08		236619	180678641	30	8273											
CMYA5	202333	broad.mit.edu	37	chr5	79084856	79084856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaatgataactactTtttctatgtgagggccatca	6	11	2	2	rs146960317		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:79084856T>G	ENST00000446378.2	+	10	11649	c.11618T>G	c.(11617-11619)tTt>tGt	p.F3873C	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3873	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATAACTACTTTTTCTATGTG	0.393													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19361	0.0		0.0	False		,,,				2504	0.0					ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11617-11619)tTt>tGt		cardiomyopathy associated 5							175	174	174					5																	79084856		1901	4120	6021	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79084856T>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11618T>G	5.37:g.79084856T>G	ENSP00000394770:p.Phe3873Cys					CTC-431G16.2_ENST00000421252.2_RNA	p.F3873C	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	10	11649	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3873			Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11618T>G	CCDS47238.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	22.5	4.298641	0.81025	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	5.75	5.75	0.90469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65026	0.2652	L	0.40543	1.245	0.47308	D	0.999382	D	0.89917	1.0	D	0.72625	0.978	T	0.67925	-0.5544	9	0.87932	D	0	.	15.7296	0.77790	0.0:0.0:0.0:1.0	.	3873	Q8N3K9	CMYA5_HUMAN	C	3873	ENSP00000394770:F3873C	ENSP00000394770:F3873C	F	+	2	0	CMYA5	79120612	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.181000	0.77682	2.188000	0.69820	0.528000	0.53228	TTT		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		55	600	0	0	0	1	0	55	600					G	79084856	T	G	79084856	3	3	67	1	0	0	0	0	1	0	0	0	3599	1841	64	4	11656	4	CMYA5	5	79084856	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	78848237	79084856	101830404	31	8274											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744450	140744450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctggatgtggtaagcGgaactgatggacaaaagtat	12	6	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:140744450G>A	ENST00000518069.1	+	1	553	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	185	Cadherin 2. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTAAGCGGAACTGATGG	0.552																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(553-555)Gga>Aga									62	63	63					5																	140744450		2024	4190	6214	SO:0001583	missense	0							g.chr5:140744450G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.553G>A	5.37:g.140744450G>A	ENSP00000429834:p.Gly185Arg					PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.G185R	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	553	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.553G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.381306	0.01204	.	.	ENSG00000253485	ENST00000518069	T	0.19532	2.14	5.52	4.6	0.57074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14614	0.0353	L	0.39514	1.22	0.09310	N	1	B;B	0.26809	0.16;0.1	B;B	0.25614	0.062;0.047	T	0.29058	-1.0024	9	0.08381	T	0.77	.	7.6206	0.28183	0.1456:0.1436:0.7108:0.0	.	185;185	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	R	185	ENSP00000429834:G185R	ENSP00000429834:G185R	G	+	1	0	PCDHGA5	140724634	0.000000	0.05858	0.525000	0.27900	0.701000	0.40568	0.662000	0.25038	2.756000	0.94617	0.563000	0.77884	GGA		0.552	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		22	236	0	0	0	1	0	22	236					A	140744450	G	A	140744450	3	1	67	1	0	0	0	0	1	0	0	0	11599	1117	39	1	555	1	PCDHGA5	5	140744450	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	61659594	140744450	40170810	32	8275											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137	136	136					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	995	0	0	0	1	0	9	995					A	141051740	G	A	141051740	3	1	67	1	0	0	0	0	1	0	0	0	840	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	307290	141051740	39863520	33	8276											
BMP5	653	broad.mit.edu	37	chr6	55739380	55739380	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactgagtactccgactctTcaggattttcttcattggtc	7	10	4	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:55739380T>A	ENST00000370830.3	-	1	982	c.284A>T	c.(283-285)gAa>gTa	p.E95V	BMP5_ENST00000446683.2_Missense_Mutation_p.E95V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	95					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)			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)			CTCCGACTCTTCAGGATTTTC	0.507																																						ENST00000370830.3																			0				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						c.(283-285)gAa>gTa		bone morphogenetic protein 5							143	134	137					6																	55739380		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739380T>A		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.284A>T	6.37:g.55739380T>A	ENSP00000359866:p.Glu95Val					BMP5_ENST00000446683.2_Missense_Mutation_p.E95V	p.E95V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	982	-	Lung NSC(77;0.0462)		95					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.284A>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611182	0.28712	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.74002	-0.8;-0.45	5.82	5.82	0.92795	Transforming growth factor-beta, N-terminal (1);	0.246245	0.43579	D	0.000543	T	0.57227	0.2039	L	0.46157	1.445	0.54753	D	0.99998	P;B	0.37141	0.584;0.083	B;B	0.37833	0.259;0.175	T	0.65792	-0.6082	10	0.54805	T	0.06	.	10.5161	0.44889	0.0:0.0719:0.0:0.9281	.	95;95	B4E0Y4;P22003	.;BMP5_HUMAN	V	95	ENSP00000359866:E95V;ENSP00000391818:E95V	ENSP00000359866:E95V	E	-	2	0	BMP5	55847339	0.896000	0.30565	0.939000	0.37840	0.945000	0.59286	1.407000	0.34657	2.216000	0.71823	0.528000	0.53228	GAA		0.507	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			27	473	0	0	0	1	0	27	473					A	55739380	T	A	55739380	3	1	67	1	0	0	0	0	1	0	0	0	1465	1783	62	5	1108	5	BMP5	6	55739380	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08		55739380	115375687	34	8277											
NT5E	4907	broad.mit.edu	37	chr6	86197162	86197162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctcctctcaatcatgCcgctttagagaatgcaacat	8	11	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1057-1059)tgC>tgT		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						163	155	158					6																	86197162		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197162C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1059C>T	6.37:g.86197162C>T						NT5E_ENST00000369651.3_Silent_p.C353C	p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1108	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	353					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1059C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103180	0.08731	.	.	ENSG00000135318	ENST00000416334;ENST00000437581	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61451	-0.7060	4	.	.	.	-11.8388	14.096	0.65021	0.0:0.9277:0.0:0.0723	.	.	.	.	V	118;49	.	.	A	+	2	0	NT5E	86253881	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.258000	0.43249	1.318000	0.45170	0.557000	0.71058	GCC		0.413	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			6	562	0	0	0	1	0	6	562					T	86197162	C	T	86197162	2	4	67	1	0	0	0	0	0	0	0	1	10735	747	26	2		2	NT5E	6	86197162	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	30457782	86197162	84917905	35	8278											
BEND3	57673	broad.mit.edu	37	chr6	107391539	107391539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggcactgcagccccGggagaagtccacgtcgctga	13	15	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:107391539G>A	ENST00000369042.1	-	4	1046	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	BEND3_ENST00000429433.2_Missense_Mutation_p.R286W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	286	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTGCAGCCCCGGGAGAAGTCC	0.637																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(856-858)Cgg>Tgg		BEN domain containing 3							18	18	18					6																	107391539		2189	4251	6440	SO:0001583	missense	57673							g.chr6:107391539G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.856C>T	6.37:g.107391539G>A	ENSP00000358038:p.Arg286Trp					BEND3_ENST00000369042.1_Missense_Mutation_p.R286W	p.R286W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	1505	-			286			BEN 1.		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.856C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101677	0.56183	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.45668	0.89;0.89	5.32	5.32	0.75619	BEN domain (2);	0.197966	0.40728	N	0.001029	T	0.48314	0.1493	L	0.56769	1.78	0.43494	D	0.995733	D	0.76494	0.999	D	0.63033	0.91	T	0.50440	-0.8828	10	0.87932	D	0	-0.939	11.8908	0.52628	0.0:0.0:0.7097:0.2903	.	286	Q5T5X7	BEND3_HUMAN	W	286	ENSP00000358038:R286W;ENSP00000411268:R286W	ENSP00000358038:R286W	R	-	1	2	BEND3	107498232	0.993000	0.37304	0.994000	0.49952	0.916000	0.54674	2.915000	0.48805	2.774000	0.95407	0.561000	0.74099	CGG		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		8	121	0	0	0	1	0	8	121					A	107391539	G	A	107391539	3	1	67	1	0	0	0	0	1	0	0	0	1400	1115	39	1	1634	1	BEND3	6	107391539	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	21194377	107391539	63723528	36	8279											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	854						7	854	---	---	---	---	T	129959603	-	T	129959602	7	5	67	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	22568063	129959602	41155465	37	8280											
RELN	5649	broad.mit.edu	37	chr7	103194237	103194237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttgtttacattatttccatCgataatgaagtcatcaacaa	5	7	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:103194237C>A	ENST00000428762.1	-	39	5998	c.5839G>T	c.(5839-5841)Gat>Tat	p.D1947Y	RELN_ENST00000424685.2_Missense_Mutation_p.D1947Y|RELN_ENST00000343529.5_Missense_Mutation_p.D1947Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1947					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTATTTCCATCGATAATGAAG	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5839-5841)Gat>Tat		reelin							151	141	145					7																	103194237		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103194237C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5839G>T	7.37:g.103194237C>A	ENSP00000392423:p.Asp1947Tyr					RELN_ENST00000428762.1_Missense_Mutation_p.D1947Y|RELN_ENST00000343529.5_Missense_Mutation_p.D1947Y	p.D1947Y			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	39	5998	-			1947					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5839G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465084	0.84425	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	6.07	6.07	0.98685	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.895	D;P	0.70935	0.971;0.674	T	0.30937	-0.9961	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1947;1947	P78509-2;P78509	.;RELN_HUMAN	Y	1947	ENSP00000392423:D1947Y;ENSP00000345694:D1947Y;ENSP00000388446:D1947Y	ENSP00000345694:D1947Y	D	-	1	0	RELN	102981473	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.818000	0.55678	2.885000	0.99019	0.655000	0.94253	GAT		0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	271	1	0	0.217242	1	0.218939	5	271					A	103194237	C	A	103194237	3	1	67	1	0	0	0	0	1	0	0	0	13270	884	31	3	4651	3	RELN	7	103194237	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		103194237	55944426	38	8281											
CALD1	800	broad.mit.edu	37	chr7	134613527	134613527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcctaccagaggaatgacGatgatgaagaggaggcagcc	14	9	0	5			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:134613527G>A	ENST00000361675.2	+	4	323	c.94G>A	c.(94-96)Gat>Aat	p.D32N	CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000361901.2_Missense_Mutation_p.D32N|CALD1_ENST00000361388.2_Missense_Mutation_p.D32N|CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N			Q05682	CALD1_HUMAN	caldesmon 1	32	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGGAATGACGATGATGAAGA	0.587																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(94-96)Gat>Aat		caldesmon 1							53	49	51					7																	134613527		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134613527G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.94G>A	7.37:g.134613527G>A	ENSP00000354826:p.Asp32Asn					CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N|CALD1_ENST00000361675.2_Missense_Mutation_p.D32N|CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000361901.2_Missense_Mutation_p.D32N	p.D32N	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			4	560	+			252			Myosin and calmodulin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.94G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.802103	0.70682	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000267	T	0.72203	0.3431	M	0.75264	2.295	0.31913	N	0.614431	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.998;0.998;0.999;0.999	T	0.73678	-0.3907	10	0.30078	T	0.28	-35.6861	17.6838	0.88251	0.0:0.0:1.0:0.0	.	37;32;26;26;32;32;32;32	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	N	32;32;32;32;32;32;32;46;32;26;26;26;37	ENSP00000398826:D32N;ENSP00000411476:D32N;ENSP00000355000:D32N;ENSP00000395710:D32N;ENSP00000401988:D32N;ENSP00000354826:D32N;ENSP00000354513:D32N;ENSP00000390926:D46N;ENSP00000416611:D32N;ENSP00000376826:D26N;ENSP00000393621:D26N;ENSP00000419673:D26N;ENSP00000445641:D37N	ENSP00000355000:D32N	D	+	1	0	CALD1	134264067	1.000000	0.71417	0.966000	0.40874	0.260000	0.26232	6.465000	0.73538	2.600000	0.87896	0.561000	0.74099	GAT		0.587	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		12	124	0	0	0	1	0	12	124					A	134613527	G	A	134613527	3	1	67	1	0	0	0	0	1	0	0	0	2588	1058	37	1	157	1	CALD1	7	134613527	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	31419290	134613527	24525136	39	8282											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394450	138394450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggacagcaaatacgGcaaaaataataaaaaccccg	7	10	1	0	rs575884895		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:138394450G>A	ENST00000310018.2	-	21	2630	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A783V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A783V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	783					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAAATACGGCAAAAATAAT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		12940	0.0		0.0	False		,,,				2504	0.001					ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2347-2349)gCc>gTc		ATPase, H+ transporting, lysosomal V0 subunit a4							146	146	146					7																	138394450		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394450G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2348C>T	7.37:g.138394450G>A	ENSP00000308122:p.Ala783Val					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A783V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A783V	p.A783V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2630	-			783					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2348C>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110738	0.56398	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87256	-2.23;-2.23;-2.23	5.71	5.71	0.89125	.	0.143577	0.48286	D	0.000199	D	0.90707	0.7084	M	0.76838	2.35	0.50171	D	0.999856	P	0.37207	0.587	P	0.44696	0.458	D	0.89757	0.3944	10	0.45353	T	0.12	-17.9449	19.8636	0.96797	0.0:0.0:1.0:0.0	.	783	Q9HBG4	VPP4_HUMAN	V	783	ENSP00000308122:A783V;ENSP00000376774:A783V;ENSP00000253856:A783V	ENSP00000308122:A783V	A	-	2	0	ATP6V0A4	138044990	0.709000	0.27886	0.801000	0.32222	0.498000	0.33706	3.924000	0.56476	2.694000	0.91930	0.655000	0.94253	GCC		0.532	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		7	840	0	0	0	1	0	7	840					A	138394450	G	A	138394450	3	1	67	1	0	0	0	0	1	0	0	0	1171	1203	42	2	182	2	ATP6V0A4	7	138394450	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	3780923	138394450	20744213	40	8283											
CLDN23	137075	broad.mit.edu	37	chr8	8560232	8560232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgctggcaggacgaGcccaacttcgtgctggcagg	16	12	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:8560232G>A	ENST00000519106.1	+	1	785	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	108					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGCAGGACGAGCCCAACTTCG	0.697																																						ENST00000519106.1																			0				endometrium(2)	2						c.(322-324)gaG>gaA		claudin 23							15	19	17					8																	8560232		2169	4252	6421	SO:0001819	synonymous_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560232G>A	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.324G>A	8.37:g.8560232G>A							p.E108E	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	785	+		Hepatocellular(245;0.217)	108					Q08AJ3	Silent	SNP	ENST00000519106.1	37	c.324G>A	CCDS55195.1																																																																																				0.697	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		12	118	0	0	0	1	0	12	118					A	8560232	G	A	8560232	2	1	67	1	0	0	0	0	0	0	0	1	3493	962	34	2		2	CLDN23	8	8560232	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		8560232	137803790	41	8284											
ENTPD4	9583	broad.mit.edu	37	chr8	23297388	23297388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtttggtgaacatcacatCccaagttaaattcagctaac	6	10	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:23297388C>A	ENST00000358689.4	-	9	1158	c.923G>T	c.(922-924)gGa>gTa	p.G308V	ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	308					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AACATCACATCCCAAGTTAAA	0.403																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(922-924)gGa>gTa		ectonucleoside triphosphate diphosphohydrolase 4							174	153	160					8																	23297388		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23297388C>A	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.923G>T	8.37:g.23297388C>A	ENSP00000351520:p.Gly308Val					ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V|ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V	p.G308V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	9	1158	-		Prostate(55;0.114)	308					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.923G>T	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747739	0.89663	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.10763	2.84;2.84;2.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.40194	-0.9576	10	0.51188	T	0.08	-20.4904	19.1586	0.93522	0.0:1.0:0.0:0.0	.	300;300;308	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	V	300;308;300	ENSP00000348536:G300V;ENSP00000351520:G308V;ENSP00000408573:G300V	ENSP00000348536:G300V	G	-	2	0	ENTPD4	23353333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.391000	0.79828	2.873000	0.98535	0.563000	0.77884	GGA		0.403	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		45	381	1	0	6.21074e-16	1	7.02794e-16	45	381					A	23297388	C	A	23297388	3	1	67	1	0	0	0	0	1	0	0	0	5159	855	30	3	947	3	ENTPD4	8	23297388	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	14737156	23297388	123066634	42	8285											
ADAM7	8756	broad.mit.edu	37	chr8	24324330	24324330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggattcttcagaataaaCgaccaaagatacctcattga	8	8	3	3	rs143068519		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:24324330C>T	ENST00000175238.6	+	6	491	c.408C>T	c.(406-408)aaC>aaT	p.N136N	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.N136N|ADAM7_ENST00000380789.1_Silent_p.N136N|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCAGAATAAACGACCAAAGAT	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0					ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(406-408)aaC>aaT		ADAM metallopeptidase domain 7		C		4,4402	6.2+/-15.9	0,4,2199	87	88	88		408	1.6	0.1	8	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM7	NM_003817.2		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		136/755	24324330	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324330C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.408C>T	8.37:g.24324330C>T						RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.N136N|ADAM7_ENST00000441335.2_Silent_p.N136N|RP11-624C23.1_ENST00000519689.1_RNA	p.N136N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	491	+		Prostate(55;0.0181)	136					A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.408C>T	CCDS6045.1																																																																																				0.373	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		24	398	0	0	0	1	0	24	398					T	24324330	C	T	24324330	2	4	67	1	0	0	0	0	0	0	0	1	251	535	19	1		1	ADAM7	8	24324330	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	1026942	24324330	122039692	43	8286											
GPR124	25960	broad.mit.edu	37	chr8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccatccagctgccccCgagtctattctcatcccttc	6	19	2	0	rs370919357		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	623					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12429	0.0		0.0	False		,,,				2504	0.0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1867-1869)cCg>cTg		G protein-coupled receptor 124		C	LEU/PRO	0,4406		0,0,2203	77	93	87		1868	5.3	1	8		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR124	NM_032777.9	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	623/1339	37693106	1,13005	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693106C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1868C>T	8.37:g.37693106C>T	ENSP00000406367:p.Pro623Leu					GPR124_ENST00000315215.7_Intron	p.P623L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1881	+			623					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1868C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106064	0.77096	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57595	0.39	5.29	5.29	0.74685	.	0.201328	0.43579	D	0.000547	T	0.50222	0.1603	L	0.59436	1.845	0.80722	D	1	P	0.40681	0.727	B	0.33960	0.173	T	0.58792	-0.7574	10	0.62326	D	0.03	-27.3238	18.9399	0.92601	0.0:1.0:0.0:0.0	.	623	Q96PE1	GP124_HUMAN	L	616;623	ENSP00000406367:P623L	ENSP00000406367:P623L	P	+	2	0	GPR124	37812264	0.998000	0.40836	1.000000	0.80357	0.748000	0.42578	2.875000	0.48491	2.497000	0.84241	0.655000	0.94253	CCG		0.647	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			55	762	0	0	0	1	0	55	762					T	37693106	C	T	37693106	3	4	67	1	0	0	0	0	1	0	0	0	6667	652	23	1	1897	1	GPR124	8	37693106	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	13368776	37693106	108670916	44	8287											
CLVS1	157807	broad.mit.edu	37	chr8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactatagagaaagctcGcctggaactgaatgaaaacc	10	8	0	4	rs187032551	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		19602	0.0		0.002	False		,,,				2504	0.0					ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(115-117)cGc>cAc		clavesin 1							81	75	77					8																	62212502		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212502G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.116G>A	8.37:g.62212502G>A	ENSP00000428402:p.Arg39His					CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron	p.R39H			Q8IUQ0	CLVS1_HUMAN			3	588	+			39					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.116G>A	CCDS6176.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	22.1	4.238068	0.79800	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.80653	-1.4;-1.4	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.68728	2.09	0.51482	D	0.99992	D;D;D	0.89917	1.0;0.995;0.999	D;D;P	0.67103	0.949;0.91;0.868	D	0.88451	0.3049	10	0.56958	D	0.05	-1.6018	20.0313	0.97540	0.0:0.0:1.0:0.0	.	39;39;39	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	H	39	ENSP00000428402:R39H;ENSP00000325506:R39H	ENSP00000325506:R39H	R	+	2	0	CLVS1	62375056	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.772000	0.55325	2.746000	0.94184	0.655000	0.94253	CGC		0.433	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		23	256	0	0	0	1	0	23	256					A	62212502	G	A	62212502	3	1	67	1	0	0	0	0	1	0	0	0	3580	1087	38	1	118	1	CLVS1	8	62212502	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	24519396	62212502	84151520	45	8288											
FAM84B	157638	broad.mit.edu	37	chr8	127569401	127569401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggagcattccacctcgtgCagccgcggatcgtagggctg	14	13	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:127569401C>A	ENST00000304916.3	-	2	689	c.234G>T	c.(232-234)ctG>ctT	p.L78L	RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	78						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCACCTCGTGCAGCCGCGGAT	0.716																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(232-234)ctG>ctT		family with sequence similarity 84, member B							11	12	12					8																	127569401		2147	4182	6329	SO:0001819	synonymous_variant	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569401C>A	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.234G>T	8.37:g.127569401C>A						RP11-103H7.5_ENST00000524320.1_RNA	p.L78L	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	689	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		78						Silent	SNP	ENST00000304916.3	37	c.234G>T	CCDS6358.1																																																																																				0.716	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		7	81	1	0	0.00198382	1	0.00206381	7	81					A	127569401	C	A	127569401	2	1	67	1	0	0	0	0	0	0	0	1	5667	697	25	3		3	FAM84B	8	127569401	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	65356899	127569401	18794621	46	8289											
BAI1	575	broad.mit.edu	37	chr8	143603456	143603456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgcctcatccgcaagcGcttcctctgcctgggctggg	12	16	2	0	rs200093247		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:143603456G>A	ENST00000517894.1	+	21	4049	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1052					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCGCAAGCGCTTCCTCTGC	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3154-3156)cGc>cAc		brain-specific angiogenesis inhibitor 1							31	41	38					8																	143603456		2199	4297	6496	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603456G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3155G>A	8.37:g.143603456G>A	ENSP00000430945:p.Arg1052His					BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H	p.R1052H			O14514	BAI1_HUMAN			21	4049	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1052						Missense_Mutation	SNP	ENST00000517894.1	37	c.3155G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.434877	0.83885	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.38722	1.12;1.12	3.78	3.78	0.43462	.	0.151347	0.45126	U	0.000396	T	0.48429	0.1499	L	0.54323	1.7	0.58432	D	0.999998	P	0.44734	0.842	P	0.48952	0.596	T	0.53351	-0.8451	10	0.54805	T	0.06	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1052	E9PBK0	.	H	1052	ENSP00000430945:R1052H;ENSP00000313046:R1052H	ENSP00000313046:R1052H	R	+	2	0	BAI1	143600458	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.490000	0.97952	1.641000	0.50575	0.305000	0.20034	CGC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		24	174	0	0	0	1	0	24	174					A	143603456	G	A	143603456	3	1	67	1	0	0	0	0	1	0	0	0	1299	1087	38	1	3233	1	BAI1	8	143603456	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	16034055	143603456	2760566	47	8290											
FBXL6	26233	broad.mit.edu	37	chr8	145580129	145580129	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaggctagggaagcctggTccgggagccacccctcgtcc	13	15	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:145580129T>A	ENST00000331890.5	-	7	1120	c.1056A>T	c.(1054-1056)ggA>ggT	p.G352G	SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.G346G|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	352					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGAAGCCTGGTCCGGGAGCCA	0.652																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1054-1056)ggA>ggT		F-box and leucine-rich repeat protein 6							40	44	43					8																	145580129		2203	4298	6501	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580129T>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1056A>T	8.37:g.145580129T>A						FBXL6_ENST00000455319.2_Silent_p.G346G|FBXL6_ENST00000526524.1_5'UTR	p.G352G	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	1120	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		352					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.1056A>T	CCDS6422.1																																																																																				0.652	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		13	277	0	0	0	1	0	13	277					A	145580129	T	A	145580129	2	1	67	1	0	0	0	0	0	0	0	1	5748	1654	58	5		5	FBXL6	8	145580129	Silent	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	1976673	145580129	783893	48	8291											
FOXD4	2298	broad.mit.edu	37	chr9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA													ctgctggctcgccgcctcctINScctcgtcttcatcttcctcc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gag>gTGGAAGACGAGGag	p.38_39insVEDE		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCTCCTCCTCGTCTTCA	0.668																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(115-117)gga>TGGAAGACGAGGgga		forkhead box D4																																				SO:0001652	inframe_insertion	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118004_118005insCCTCGTCTTCCA	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.115_116insTGGAAGACGAGG	9.37:g.118004_118005insCCTCGTCTTCCA	ENSP00000371940:p.Glu38_Glu39insValGluAspGlu						p.38_39insWKTR	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	412_413	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	38					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Ins	INS	ENST00000382500.2	37	c.115_116insTGGAAGACGAGG	CCDS34975.1																																																																																				0.668	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		12	459						12	459	---	---	---	---	CCTCGTCTTCCA	118005	-	CCTCGTCTTCCA	118004	7	5	67	1	0	1	1	0	0	0	0	0	6024	1551	54	0	1207	0	FOXD4	9	118004	In_Frame_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08		118004	141095427	49	8292											
ALDH1A1	216	broad.mit.edu	37	chr9	75531895	75531895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatatacttcttagcccGctcaacactccttcgaacaa	5	13	2	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:75531895G>A	ENST00000297785.3	-	9	1030	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	326					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTTAGCCCGCTCAACACTC	0.458																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(976-978)Cgg>Tgg		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						111	109	110					9																	75531895		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75531895G>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.976C>T	9.37:g.75531895G>A	ENSP00000297785:p.Arg326Trp					ALDH1A1_ENST00000376939.1_3'UTR	p.R326W	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			9	1030	-			326					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.976C>T	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767293	0.49574	.	.	ENSG00000165092	ENST00000297785	T	0.78003	-1.14	5.96	4.1	0.47936	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	D	0.89556	0.6749	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.91235	0.5017	10	0.87932	D	0	.	15.5066	0.75745	0.0:0.0:0.4719:0.5281	.	247;326	B4DDF8;P00352	.;AL1A1_HUMAN	W	326	ENSP00000297785:R326W	ENSP00000297785:R326W	R	-	1	2	ALDH1A1	74721715	0.000000	0.05858	0.988000	0.46212	0.417000	0.31264	0.133000	0.15912	0.834000	0.34852	-0.182000	0.12963	CGG		0.458	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			5	483	0	0	0	1	0	5	483					A	75531895	G	A	75531895	3	1	67	1	0	0	0	0	1	0	0	0	490	1086	38	1	549	1	ALDH1A1	9	75531895	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	75413891	75531895	65681536	50	8293											
FOXB2	442425	broad.mit.edu	37	chr9	79635329	79635329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggctgggctcggccgcCgccgctgccgccgcggccgc	17	19	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:79635329C>T	ENST00000376708.1	+	1	759	c.759C>T	c.(757-759)gcC>gcT	p.A253A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	253	Poly-Ala.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCTCGgccgccgccgctgccg	0.746																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(757-759)gcC>gcT		forkhead box B2							9	11	11					9																	79635329		2126	4196	6322	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635329C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.759C>T	9.37:g.79635329C>T							p.A253A	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	759	+			253			Poly-Ala.			Silent	SNP	ENST00000376708.1	37	c.759C>T	CCDS35045.1																																																																																				0.746	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		4	78	0	0	0	1	0	4	78					T	79635329	C	T	79635329	2	4	67	1	0	0	0	0	0	0	0	1	6018	639	23	1		1	FOXB2	9	79635329	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	4103434	79635329	61578102	51	8294											
TTF1	7270	broad.mit.edu	37	chr9	135266061	135266061	+	Frame_Shift_Del	DEL	T	T	-													caagatatgcccttgtagagTttttcccgaacaattgatag							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:135266061delT	ENST00000334270.2	-	7	2184	c.2145delA	c.(2143-2145)aaafs	p.K715fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	715	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCTTGTAGAGTTTTTCCCGAA	0.403																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2143-2145)aafs		transcription termination factor, RNA polymerase I							203	192	196					9																	135266061		2203	4300	6503	SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266061delT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2145delA	9.37:g.135266061delT	ENSP00000333920:p.Lys715fs						p.K715fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2184	-		Myeloproliferative disorder(178;0.204)	715			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Del	DEL	ENST00000334270.2	37	c.2145delA	CCDS6948.1																																																																																				0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		7	1010						7	1010	---	---	---	---	-	135266061	T	-	135266061	7	5	67	1	0	1	0	1	0	0	0	0	16772	1722	60	0	592	0	TTF1	9	135266061	Frame_Shift_Del	DEL	T	TCGA-HV-AA8V-01A-11D-A40W-08	55630732	135266061	5947370	52	8295											
C10orf93	54777	broad.mit.edu	37	chr10	134743281	134743282	+	Frame_Shift_Ins	INS	-	-	C													atttcaaggtcaaggaaaaaINScgcgccaattcaaaaagcaa					rs559471371|rs369847869	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr10:134743281_134743282insC	ENST00000368586.5	-	9	993_994	c.893_894insG	c.(892-894)cgtfs	p.R298fs	TTC40_ENST00000368585.3_Frame_Shift_Ins_p.R298fs|TTC40_ENST00000368582.2_Frame_Shift_Ins_p.R298fs	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCAAGGAAAAACGCGCCAATTC	0.495																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(892-894)cttfs		tetratricopeptide repeat domain 40																																				SO:0001589	frameshift_variant	54777							g.chr10:134743281_134743282insC																												ENST00000368586.5:c.894dupG	10.37:g.134743282_134743282dupC	ENSP00000357575:p.Arg298fs					TTC40_ENST00000368582.2_Frame_Shift_Ins_p.L298fs|TTC40_ENST00000368585.3_Frame_Shift_Ins_p.L298fs	p.L298fs	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			9	993_994	-			0						Frame_Shift_Ins	INS	ENST00000368586.5	37	c.893_894insG	CCDS58101.1																																																																																				0.495	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			7	269						7	269	---	---	---	---	C	134743282	-	C	134743281	7	5	67	1	0	1	1	0	0	0	0	0	1630	30	2	0	327	0	C10orf93	10	134743281	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08		134743281	791466	53	8296											
IPO7	10527	broad.mit.edu	37	chr11	9459508	9459508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagtggcttaatgatgttGactgtttcttggggtaagtg	13	5	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:9459508G>A	ENST00000379719.3	+	21	2618	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	826					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TAATGATGTTGACTGTTTCTT	0.313																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2476-2478)Gac>Aac		importin 7							77	75	76					11																	9459508		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9459508G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2476G>A	11.37:g.9459508G>A	ENSP00000369042:p.Asp826Asn						p.D826N	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	21	2618	+			826					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2476G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880990	0.91740	.	.	ENSG00000205339	ENST00000379719	T	0.49139	0.79	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.84683	2.71	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.71984	-0.4427	10	0.31617	T	0.26	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	826	O95373	IPO7_HUMAN	N	826	ENSP00000369042:D826N	ENSP00000369042:D826N	D	+	1	0	IPO7	9416084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.270000	0.75569	0.460000	0.39030	GAC		0.313	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		13	187	0	0	0	1	0	13	187					A	9459508	G	A	9459508	3	1	67	1	0	0	0	0	1	0	0	0	7827	1290	45	2	2558	2	IPO7	11	9459508	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		9459508	125547008	54	8297											
AMPD3	272	broad.mit.edu	37	chr11	10503680	10503680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatccgggagaagtatgCgcggctcgcctaccaccgct	12	13	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:10503680C>T	ENST00000396554.3	+	4	865	c.524C>T	c.(523-525)gCg>gTg	p.A175V	AMPD3_ENST00000444303.2_Missense_Mutation_p.A7V	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GAGAAGTATGCGCGGCTCGCC	0.607																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(19-21)gCg>gTg		adenosine monophosphate deaminase 3							112	118	116					11																	10503680		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503680C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.524C>T	11.37:g.10503680C>T	ENSP00000379802:p.Ala175Val					AMPD3_ENST00000396554.3_Missense_Mutation_p.A175V	p.A7V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	492	+			166					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.20C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692577	0.48202	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.88	5.88	0.94601	.	0.050747	0.85682	D	0.000000	T	0.29423	0.0733	N	0.04090	-0.28	0.38538	D	0.949131	B;B;B	0.26635	0.155;0.004;0.155	B;B;B	0.26416	0.069;0.002;0.069	T	0.20042	-1.0287	10	0.38643	T	0.18	-13.7119	16.4824	0.84161	0.0:0.8692:0.1308:0.0	.	173;166;175	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	7;175;166;166;173;166	ENSP00000396000:A7V;ENSP00000379802:A175V;ENSP00000433284:A166V;ENSP00000379801:A166V;ENSP00000436987:A173V;ENSP00000431648:A166V	ENSP00000379801:A166V	A	+	2	0	AMPD3	10460256	0.999000	0.42202	0.930000	0.37139	0.153000	0.21895	4.014000	0.57145	2.782000	0.95742	0.655000	0.94253	GCG		0.607	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		6	751	0	0	0	1	0	6	751					T	10503680	C	T	10503680	3	4	67	1	0	0	0	0	1	0	0	0	587	768	27	1	558	1	AMPD3	11	10503680	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	1044172	10503680	124502836	55	8298											
DEPDC7	91614	broad.mit.edu	37	chr11	33050274	33050274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaacctaagaggcagTccaccatggtcaacagcagt	8	13	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:33050274T>C	ENST00000241051.3	+	4	810	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P	DEPDC7_ENST00000311388.3_Missense_Mutation_p.S231P	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	240					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAAGAGGCAGTCCACCATGGT	0.413																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(691-693)Tcc>Ccc		DEP domain containing 7							119	114	115					11																	33050274		1931	4147	6078	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050274T>C		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.718T>C	11.37:g.33050274T>C	ENSP00000241051:p.Ser240Pro					DEPDC7_ENST00000241051.3_Missense_Mutation_p.S240P	p.S231P	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			4	1067	+			240					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.691T>C	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351861	0.05173	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.14266	2.53;2.52	6.07	2.0	0.26442	.	0.384731	0.32015	N	0.006715	T	0.04003	0.0112	N	0.02247	-0.625	0.22827	N	0.998685	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34104	-0.9842	10	0.31617	T	0.26	0.2132	2.4874	0.04601	0.1154:0.4476:0.1129:0.3241	.	231;240	G5E941;Q96QD5	.;DEPD7_HUMAN	P	240;231	ENSP00000241051:S240P;ENSP00000308971:S231P	ENSP00000241051:S240P	S	+	1	0	DEPDC7	33006850	0.907000	0.30839	0.989000	0.46669	0.025000	0.11179	0.078000	0.14761	0.400000	0.25396	-0.250000	0.11733	TCC		0.413	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		28	377	0	0	0	1	0	28	377					C	33050274	T	C	33050274	3	2	67	1	0	0	0	0	1	0	0	0	4460	1667	58	4	782	4	DEPDC7	11	33050274	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	22546594	33050274	101956242	56	8299											
CADM1	23705	broad.mit.edu	37	chr11	115047275	115047275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtctgcgtctgctgcGtcatcggctcctttggcttc	12	13	3	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:115047275G>A	ENST00000452722.3	-	10	1268	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	CADM1_ENST00000331581.6_Silent_p.D445D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000542447.2_Silent_p.D388D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.D416D(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CGTCTGCTGCGTCATCGGCTC	0.453																																						ENST00000542447.2																			2	Substitution - coding silent(2)	p.D416D(2)	cervix(1)|large_intestine(1)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1162-1164)gaC>gaT		cell adhesion molecule 1							235	212	220					11																	115047275		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047275G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1248C>T	11.37:g.115047275G>A						CADM1_ENST00000331581.6_Silent_p.D445D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000452722.2_Silent_p.D416D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D	p.D388D	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1292	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	416						Silent	SNP	ENST00000452722.3	37	c.1164C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	2.658	-0.280418	0.05642	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.36	3.36	0.38483	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52704	-0.8540	4	.	.	.	.	7.2924	0.26374	0.3073:0.0:0.6927:0.0	.	.	.	.	C	387	.	.	R	-	1	0	CADM1	114552485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.417000	0.44653	1.491000	0.48482	0.655000	0.94253	CGC		0.453	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		46	547	0	0	0	1	0	46	547					A	115047275	G	A	115047275	2	1	67	1	0	0	0	0	0	0	0	1	2573	1136	40	1		1	CADM1	11	115047275	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	81997001	115047275	19959241	57	8300											
BCL9L	283149	broad.mit.edu	37	chr11	118772046	118772047	+	Frame_Shift_Ins	INS	-	-	C													gccccatcaagtccccagggINSccccgcatcttctgcgacat							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:118772046_118772047insC	ENST00000334801.3	-	6	3369_3370	c.2405_2406insG	c.(2404-2406)ggcfs	p.G802fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	802	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCCCCAGGGCCCCGCATCTT	0.594																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(2404-2406)gccfs		B-cell CLL/lymphoma 9-like																																				SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772046_118772047insC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2406dupG	11.37:g.118772050_118772050dupC	ENSP00000335320:p.Gly802fs					BCL9L_ENST00000526143.1_5'UTR	p.A802fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3369_3370	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	802			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	c.2405_2406insG	CCDS8403.1																																																																																				0.594	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		8	245						8	245	---	---	---	---	C	118772047	-	C	118772046	7	5	67	1	0	1	1	0	0	0	0	0	1383	1190	42	0	2105	0	BCL9L	11	118772046	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	3724771	118772046	16234470	58	8301											
ACRBP	57121	broad.mit.edu	37	chr12	6747481	6747483	+	5'Flank	DEL	CTC	CTC	-													cctagagtcaaggtgctgaaCtcctggctccatcgaagcac							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:6747481_6747483delCTC	ENST00000329858.4	-	0	0				ACRBP_ENST00000414226.2_In_Frame_Del_p.E500del|ACRBP_ENST00000229243.2_In_Frame_Del_p.E533del|LPAR5_ENST00000540335.1_5'Flank|ACRBP_ENST00000542357.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGGTGCTGAACTCCTGGCTCCAT	0.542																																					NSCLC(74;891 2312 37538)	ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(1597-1599)del		acrosin binding protein																																				SO:0001631	upstream_gene_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6747481_6747483delCTC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0			12.37:g.6747481_6747483delCTC	Exception_encountered					ACRBP_ENST00000414226.2_In_Frame_Del_p.E500del	p.E533del	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			10	1690_1692	-			533						In_Frame_Del	DEL	ENST00000329858.4	37	c.1597_1599delGAG	CCDS8553.1																																																																																				0.542	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		19	273						19	273	---	---	---	---	-	6747483	CTC	-	6747481	6	5	67	0	1	1	0	1	0	0	0	0	170	564	20	0		0	ACRBP	12	6747481	5'Flank	DEL	CTC	TCGA-HV-AA8V-01A-11D-A40W-08		6747481	127104414	59	8302											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	172	1	0	4.96729e-08	1	5.47676e-08	18	172					A	25398284	C	A	25398284	3	1	67	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	18650803	25398284	108453611	60	8303											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449402	85449402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacaagaaaaagaaaaaaaTtctttgttaaaacagcagaa	5	5	1	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:85449402T>A	ENST00000393217.2	+	8	892	c.831T>A	c.(829-831)aaT>aaA	p.N277K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	277	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGAAAAAAATTCTTTGTTAA	0.279																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(829-831)aaT>aaA		leucine-rich repeats and IQ motif containing 1							24	27	26					12																	85449402		2158	4261	6419	SO:0001583	missense	84125							g.chr12:85449402T>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.831T>A	12.37:g.85449402T>A	ENSP00000376910:p.Asn277Lys						p.N277K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	892	+			277			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.831T>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.106995	0.00356	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.44881	0.91	5.27	-3.75	0.04372	.	1.107710	0.06767	N	0.782885	T	0.13884	0.0336	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.27123	-1.0083	10	0.02654	T	1	.	4.8548	0.13554	0.4249:0.0:0.2576:0.3174	.	277;252	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	277;252;277	ENSP00000376910:N277K	ENSP00000256007:N277K	N	+	3	2	LRRIQ1	83973533	0.000000	0.05858	0.006000	0.13384	0.025000	0.11179	-0.697000	0.05098	-0.763000	0.04658	0.260000	0.18958	AAT		0.279	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		16	241	0	0	0	1	0	16	241					A	85449402	T	A	85449402	3	1	67	1	0	0	0	0	1	0	0	0	9067	1490	52	5	857	5	LRRIQ1	12	85449402	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	60051118	85449402	48402493	61	8304											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		8	924						8	924	---	---	---	---	-	21961062	GCT	-	21961060	7	5	67	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-HV-AA8V-01A-11D-A40W-08		21961060	85388480	62	8305											
ACSBG1	23205	broad.mit.edu	37	chr15	78500376	78500376	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgggcattattcaccttcTctggcactgagagctcgaga	10	11	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr15:78500376T>A	ENST00000258873.4	-	2	405	c.200A>T	c.(199-201)gAg>gTg	p.E67V	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	67					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATTCACCTTCTCTGGCACTGA	0.597																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(199-201)gAg>gTg		acyl-CoA synthetase bubblegum family member 1							79	63	69					15																	78500376		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78500376T>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.200A>T	15.37:g.78500376T>A	ENSP00000258873:p.Glu67Val					ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	p.E67V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			2	405	-			67					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.200A>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351684	0.24512	.	.	ENSG00000103740	ENST00000258873	T	0.34859	1.34	3.78	0.137	0.14787	.	0.529823	0.16096	N	0.229804	T	0.29093	0.0723	L	0.61218	1.895	0.09310	N	1	B;B	0.31125	0.309;0.309	B;B	0.29785	0.081;0.107	T	0.18053	-1.0349	10	0.46703	T	0.11	-9.9024	4.2711	0.10787	0.3575:0.0:0.1854:0.4571	.	67;67	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	67	ENSP00000258873:E67V	ENSP00000258873:E67V	E	-	2	0	ACSBG1	76287431	0.015000	0.18098	0.022000	0.16811	0.030000	0.12068	0.155000	0.16362	0.007000	0.14760	0.402000	0.26972	GAG		0.597	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		4	113	0	0	0	1	0	4	113					A	78500376	T	A	78500376	3	1	67	1	0	0	0	0	1	0	0	0	173	1551	54	5	2026	5	ACSBG1	15	78500376	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08		78500376	24031016	63	8306											
TPSAB1	7177	broad.mit.edu	37	chr16	1291269	1291269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatactggatgcacttctgCgggggctccctcatccaccc	9	17	2	0	rs200858385		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr16:1291269C>T	ENST00000338844.3	+	3	210	c.177C>T	c.(175-177)tgC>tgT	p.C59C	TPSAB1_ENST00000461509.2_Silent_p.C66C	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCACTTCTGCGGGGGCTCCC	0.692																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(196-198)tgC>tgT		tryptase alpha/beta 1																																				SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291269C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.177C>T	16.37:g.1291269C>T						TPSAB1_ENST00000338844.3_Silent_p.C59C	p.C66C			P20231	TRYB2_HUMAN			2	392	+		Hepatocellular(780;0.00369)	59			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.198C>T	CCDS10431.1																																																																																				0.692	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		7	325	0	0	0	1	0	7	325					T	1291269	C	T	1291269	2	4	67	1	0	0	0	0	0	0	0	1	16476	776	27	1		1	TPSAB1	16	1291269	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		1291269	89063484	64	8307											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		14	315						14	315	---	---	---	---	-	67913769	CAG	-	67913767	7	5	67	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HV-AA8V-01A-11D-A40W-08	66622498	67913767	22440986	65	8308											
TP53	7157	broad.mit.edu	37	chr17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcgggtgccgggcgggGgtgtggaatcaacccacagc	19	11	1	0	rs137852790|rs137852791		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in 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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		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)	ENST00000420246.2		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"		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(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						c.(451-453)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							54	55	55					17																	7578478		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578478G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg	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_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R	p.P151R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	584	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.452C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	231	0	0	0	1	0	20	231					C	7578478	G	C	7578478	3	2	67	1	0	0	0	0	1	0	0	0	16434	1232	43	5	846	5	TP53	17	7578478	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		7578478	73616732	66	8309											
PROCA1	6830	broad.mit.edu	37	chr17	27031408	27031409	+	IGR	INS	-	-	C													tgacatgggagcaggttgggINScccgcgccccgggagctgct							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:27031408_27031409insC	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000301039.2_Frame_Shift_Ins_p.G91fs|PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.G93fs	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGCAGGTTGGGCCCGCGCCCCG	0.639																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(271-273)gccfs		protein interacting with cyclin A1																																				SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031408_27031409insC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031411_27031411dupC						PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.A93fs|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	p.A91fs	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			3	465_466	-	Lung NSC(42;0.00431)		119					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Frame_Shift_Ins	INS	ENST00000314616.6	37	c.272_273insG	CCDS32596.1																																																																																				0.639	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1221						7	1221	---	---	---	---	C	27031409	-	C	27031408	6	5	67	0	1	1	1	0	0	0	0	0	12593	1190	42	0		0	PROCA1	17	27031408	IGR	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	19452930	27031408	54163802	67	8310											
ABCA6	23460	broad.mit.edu	37	chr17	67125766	67125767	+	Frame_Shift_Ins	INS	-	-	A													ttaccaaagataagccatatINSaaaaaaaagagtataaatat							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:67125766_67125767insA	ENST00000284425.2	-	7	1091_1092	c.917_918insT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGAG	0.307																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(916-918)ttafs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67125766_67125767insA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.918dupT	17.37:g.67125774_67125774dupA	ENSP00000284425:p.Leu306fs						p.L306fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			7	1091_1092	-	Breast(10;5.65e-12)		306					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.917_918insT	CCDS11683.1																																																																																				0.307	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		7	497						7	497	---	---	---	---	A	67125767	-	A	67125766	7	5	67	1	0	1	1	0	0	0	0	0	36	1403	49	0	4067	0	ABCA6	17	67125766	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	40094358	67125766	14069444	68	8311											
NPC1	4864	broad.mit.edu	37	chr18	21121386	21121386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcacggctggcatcaCggacaatgctcctgtcgggg	16	11	1	0	rs146874573		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:21121386C>T	ENST00000269228.5	-	15	2811	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	NPC1_ENST00000412552.2_Missense_Mutation_p.V435M|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	753	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTGGCATCACGGACAATGCT	0.512																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2257-2259)Gtg>Atg		Niemann-Pick disease, type C1		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	77	69	72		2257	-11.8	0	18	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPC1	NM_000271.4	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	753/1279	21121386	2,13004	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21121386C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2257G>A	18.37:g.21121386C>T	ENSP00000269228:p.Val753Met					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V435M	p.V753M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			15	2811	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		753			SSD.		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2257G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370474	0.42003	2.27E-4	1.16E-4	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.91740	-2.9;-2.9	5.89	-11.8	0.00035	Sterol-sensing domain (1);	1.444430	0.03929	N	0.284945	T	0.81602	0.4857	L	0.38175	1.15	0.09310	N	1	P;P	0.38711	0.643;0.643	B;B	0.25884	0.064;0.064	T	0.75139	-0.3423	10	0.46703	T	0.11	-1.0E-4	7.997	0.30273	0.22:0.08:0.0709:0.6291	.	764;753	Q59GR1;O15118	.;NPC1_HUMAN	M	753;435;598	ENSP00000269228:V753M;ENSP00000408606:V435M	ENSP00000269228:V753M	V	-	1	0	NPC1	19375384	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.730000	0.04915	-3.092000	0.00247	-1.075000	0.02238	GTG		0.512	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		14	231	0	0	0	1	0	14	231					T	21121386	C	T	21121386	3	4	67	1	0	0	0	0	1	0	0	0	10612	536	19	1	1623	1	NPC1	18	21121386	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		21121386	56955862	69	8312											
SMAD4	4089	broad.mit.edu	37	chr18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaatattgtcagtatgCgtttgacttaaaatgtgata	8	3	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398																																						ENST00000342988.3																			43	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(3)	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)	pancreas(28)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(352-354)gCg>gTg		SMAD family member 4							171	153	159					18																	48575159		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575159C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.353C>T	18.37:g.48575159C>T	ENSP00000341551:p.Ala118Val					SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR	p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	891	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	118			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.353C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260508	0.95368	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78364	-1.17;-1.17;-1.17	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91673	0.5352	10	0.72032	D	0.01	.	18.1041	0.89515	0.0:1.0:0.0:0.0	.	118	Q13485	SMAD4_HUMAN	V	118	ENSP00000409551:A118V;ENSP00000341551:A118V;ENSP00000381452:A118V	ENSP00000341551:A118V	A	+	2	0	SMAD4	46829157	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.793000	0.85851	2.540000	0.85666	0.585000	0.79938	GCG		0.398	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		22	250	0	0	0	1	0	22	250					T	48575159	C	T	48575159	3	4	67	1	0	0	0	0	1	0	0	0	14810	768	27	1	359	1	SMAD4	18	48575159	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	27453773	48575159	29502089	70	8313											
KHSRP	8570	broad.mit.edu	37	chr19	6417818	6417818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctccactccggccaAtgaccacgccaacagaatgc	6	17	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:6417818A>G	ENST00000398148.3	-	11	1105	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	338	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ACTCCGGCCAATGACCACGCC	0.642											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1012-1014)aTt>aCt		KH-type splicing regulatory protein							51	56	54					19																	6417818		2116	4241	6357	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6417818A>G	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1013T>C	19.37:g.6417818A>G	ENSP00000381216:p.Ile338Thr		OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633		p.I338T	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			11	1105	-			338			Gly-rich.|KH 3.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.1013T>C	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495956	0.64186	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.63913	-0.07	5.22	5.22	0.72569	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.050085	0.85682	N	0.000000	D	0.86041	0.5838	H	0.97415	4	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	D	0.90820	0.4708	10	0.87932	D	0	.	14.1092	0.65111	1.0:0.0:0.0:0.0	.	338	Q92945	FUBP2_HUMAN	T	338;338;294	ENSP00000381216:I338T	ENSP00000201886:I338T	I	-	2	0	KHSRP	6368818	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	9.079000	0.94032	1.964000	0.57103	0.460000	0.39030	ATT		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			8	141	0	0	0	1	0	8	141					G	6417818	A	G	6417818	3	3	67	1	0	0	0	0	1	0	0	0	8181	101	4	4	1162	4	KHSRP	19	6417818	Missense_Mutation	SNP	A	TCGA-HV-AA8V-01A-11D-A40W-08		6417818	52711165	71	8314											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	529	0	0	0	1	0	6	529					C	20807460	T	C	20807460	3	2	67	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	14389642	20807460	38321523	72	8315											
ZNF99	7652	broad.mit.edu	37	chr19	22941404	22941404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctaagggctgagaaaCgcttaaaagctttgccacat	9	8	1	1	rs138536833	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:22941404C>T	ENST00000596209.1	-	4	1397	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	ZNF99_ENST00000397104.3_Missense_Mutation_p.R345H	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTGAGAAACGCTTAAAAGC	0.373													T|||	9	0.00179712	0.0053	0.0	5008	,	,		20160	0.001		0.001	False		,,,				2504	0.0					ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1033-1035)cGt>cAt		zinc finger protein 99		C	HIS/ARG	23,4053		0,23,2015	58	59	59		1034	-2.5	0	19	dbSNP_134	59	1,8437		0,1,4218	no	missense	ZNF99	NM_001080409.2	29	0,24,6233	TT,TC,CC		0.0119,0.5643,0.1918	benign	345/912	22941404	24,12490	2038	4219	6257	SO:0001583	missense	7652							g.chr19:22941404C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1307G>A	19.37:g.22941404C>T	ENSP00000472969:p.Arg436His					ZNF99_ENST00000596209.1_Missense_Mutation_p.R436H	p.R345H							5	1033	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1034G>A	CCDS59369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	N	0.029	-1.350827	0.01256	0.005643	1.19E-4	ENSG00000213973	ENST00000397104	T	0.36157	1.27	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	N	0.26162	0.8	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.16928	-1.0386	9	0.23891	T	0.37	.	4.9174	0.13853	0.0:0.5488:0.1812:0.27	.	345	A8MXY4	ZNF99_HUMAN	H	345	ENSP00000380293:R345H	ENSP00000380293:R345H	R	-	2	0	ZNF99	22733244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.272000	0.00135	-1.776000	0.01285	-1.867000	0.00556	CGT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	276	0	0	0	1	0	5	276					T	22941404	C	T	22941404	3	4	67	1	0	0	0	0	1	0	0	0	18257	536	19	1	2090	1	ZNF99	19	22941404	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	2133944	22941404	36187579	73	8316											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1275						10	1275	---	---	---	---	-	36255949	CTC	-	36255947	7	5	67	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-HV-AA8V-01A-11D-A40W-08	13314543	36255947	22873036	74	8317											
KIRREL2	84063	broad.mit.edu	37	chr19	36357152	36357153	+	Frame_Shift_Ins	INS	-	-	C													tctcttcctgccaccaccctINSccccccttgggcccccaggg					rs377502033		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:36357152_36357153insC	ENST00000360202.5	+	15	2083_2084	c.1885_1886insC	c.(1885-1887)tccfs	p.S629fs	APLP1_ENST00000221891.4_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.S594fs	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	629	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCACCACCCTCCCCCCTTGGG	0.624																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(1885-1887)cccfs		kin of IRRE like 2 (Drosophila)																																				SO:0001589	frameshift_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357152_36357153insC	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1891dupC	19.37:g.36357158_36357158dupC	ENSP00000353331:p.Ser629fs					KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Frame_Shift_Ins_p.P609fs|KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.P594fs|NPHS1_ENST00000591817.1_Intron	p.P629fs	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2083_2084	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		629			Pro-rich.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Frame_Shift_Ins	INS	ENST00000360202.5	37	c.1885_1886insC	CCDS12481.1																																																																																				0.624	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		7	408						7	408	---	---	---	---	C	36357153	-	C	36357152	7	5	67	1	0	1	1	0	0	0	0	0	8355	1551	54	0	1943	0	KIRREL2	19	36357152	Frame_Shift_Ins	INS	-	TCGA-HV-AA8V-01A-11D-A40W-08	101205	36357152	22771831	75	8318											
NPEPL1	79716	broad.mit.edu	37	chr20	57268896	57268896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccctgcagggtgagccGgcacaacagcccctcggccg	13	18	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57268896G>A	ENST00000356091.6	+	2	542	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	85						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGGGTGAGCCGGCACAACAGC	0.682																																						ENST00000356091.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(253-255)cGg>cAg		aminopeptidase-like 1							25	32	30					20																	57268896		2092	4199	6291	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57268896G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.254G>A	20.37:g.57268896G>A	ENSP00000348395:p.Arg85Gln					NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q|STX16-NPEPL1_ENST00000530122.1_3'UTR	p.R85Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		2	542	+	all_lung(29;0.0175)		85					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.254G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.923514	0.97110	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.58358	0.39;0.47;0.34	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	M	0.83384	2.64	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	T	0.79841	-0.1633	10	0.72032	D	0.01	-28.8711	17.2194	0.86953	0.0:0.0:1.0:0.0	.	85;37;57	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	Q	57;37;85	ENSP00000434810:R57Q;ENSP00000437112:R37Q;ENSP00000348395:R85Q	ENSP00000348395:R85Q	R	+	2	0	NPEPL1	56702303	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	9.378000	0.97191	2.304000	0.77564	0.505000	0.49811	CGG		0.682	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		11	149	0	0	0	1	0	11	149					A	57268896	G	A	57268896	3	1	67	1	0	0	0	0	1	0	0	0	10616	1116	39	1	106	1	NPEPL1	20	57268896	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		57268896	5756624	76	8319											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		24	259	0	0	0	1	0	24	259					T	57484420	C	T	57484420	3	4	67	1	0	0	0	0	1	0	0	0	6539	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	215524	57484420	5541100	77	8320											
NDUFV3	4731	broad.mit.edu	37	chr21	44317096	44317096	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacggtttctttgtctgcGgaatcagggaagagtgaaaa	12	6	4	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr21:44317096G>T	ENST00000340344.4	+	2	174	c.108G>T	c.(106-108)gcG>gcT	p.A36A	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.A36A	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	36					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CTTTGTCTGCGGAATCAGGGA	0.418																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(106-108)gcG>gcT		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						80	79	80					21																	44317096		2203	4300	6503	SO:0001819	synonymous_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44317096G>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.108G>T	21.37:g.44317096G>T						NDUFV3_ENST00000340344.3_Silent_p.A36A|NDUFV3_ENST00000460259.1_3'UTR	p.A36A	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	2	177	+			36					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	37	c.108G>T	CCDS33573.1																																																																																				0.418	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			26	359	1	0	2.44723e-14	1	2.74516e-14	26	359					T	44317096	G	T	44317096	2	4	67	1	0	0	0	0	0	0	0	1	10343	1103	39	3		3	NDUFV3	21	44317096	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		44317096	3812799	78	8321											
CECR1	51816	broad.mit.edu	37	chr22	17662742	17662742	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggccagctgtttgagggtCctcaggtcagccttcatccc	11	13	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:17662742C>T	ENST00000399839.1	-	9	1680	c.1410G>A	c.(1408-1410)agG>agA	p.R470R	CECR1_ENST00000449907.2_Silent_p.R428R|CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000399837.2_Silent_p.R470R|CECR1_ENST00000330232.4_Silent_p.R229R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	470					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTTTGAGGGTCCTCAGGTCAG	0.547																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1408-1410)agG>agA		cat eye syndrome chromosome region, candidate 1							91	78	82					22																	17662742		2203	4300	6503	SO:0001819	synonymous_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662742C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1410G>A	22.37:g.17662742C>T						CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000330232.4_Silent_p.R229R|CECR1_ENST00000399837.2_Silent_p.R470R|CECR1_ENST00000449907.2_Silent_p.R428R	p.R470R			Q9NZK5	CECR1_HUMAN			9	1680	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	470					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	c.1410G>A	CCDS13742.1																																																																																				0.547	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			20	312	0	0	0	1	0	20	312					T	17662742	C	T	17662742	2	4	67	1	0	0	0	0	0	0	0	1	3214	854	30	2		2	CECR1	22	17662742	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		17662742	33641824	79	8322											
MED15	51586	broad.mit.edu	37	chr22	20939239	20939239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatccgctcacctgtctTcaaccattccctgtaccgca	4	18	3	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:20939239T>C	ENST00000263205.7	+	15	1970	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.F483S|MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000541476.1_Missense_Mutation_p.F568S|MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000406969.1_Missense_Mutation_p.F568S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	634					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCACCTGTCTTCAACCATTCC	0.647																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1900-1902)tTc>tCc		mediator complex subunit 15							173	152	159					22																	20939239		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939239T>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1901T>C	22.37:g.20939239T>C	ENSP00000263205:p.Phe634Ser					MED15_ENST00000541476.1_Missense_Mutation_p.F568S|MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000406969.1_Missense_Mutation_p.F568S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.F483S	p.F634S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	1970	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	634					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1901T>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334132	0.81801	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.72	4.72	0.59763	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.997;0.999;0.997	D;D;D;D;D;D	0.83275	0.984;0.995;0.996;0.991;0.988;0.995	T	0.74115	-0.3769	9	0.30854	T	0.27	.	12.1678	0.54139	0.0:0.0:0.0:1.0	.	564;613;250;568;594;634	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	S	483;594;634;568;523;568;564	.	ENSP00000263205:F634S	F	+	2	0	MED15	19269239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.597000	0.82733	1.771000	0.52183	0.459000	0.35465	TTC		0.647	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		49	573	0	0	0	1	0	49	573					C	20939239	T	C	20939239	3	2	67	1	0	0	0	0	1	0	0	0	9474	1783	62	4	1959	4	MED15	22	20939239	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	3276497	20939239	30365327	80	8323											
MYH9	4627	broad.mit.edu	37	chr22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtcctccatctccgtgCggaactgcttgttgagccgc	11	13	1	1	rs549408311		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				c|||	1	0.000199681	0.0	0.0	5008	,	,		19132	0.0		0.0	False		,,,				2504	0.001					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4507-4509)cGc>cAc		myosin, heavy chain 9, non-muscle							103	77	86					22																	36685180		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36685180C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4508G>A	22.37:g.36685180C>T	ENSP00000216181:p.Arg1503His						p.R1503H	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			32	4738	-			1503					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4508G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	c	27.6	4.849169	0.91277	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78003	-1.14	5.2	5.2	0.72013	Myosin tail (1);	0.179769	0.49305	D	0.000160	D	0.86293	0.5898	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.87483	0.2422	10	0.87932	D	0	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	1503	P35579	MYH9_HUMAN	H	925;105;1503	ENSP00000216181:R1503H	ENSP00000216181:R1503H	R	-	2	0	MYH9	35015126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.586000	0.87340	0.556000	0.70494	CGC		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		11	191	0	0	0	1	0	11	191					T	36685180	C	T	36685180	3	4	67	1	0	0	0	0	1	0	0	0	10083	768	27	1	1414	1	MYH9	22	36685180	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	15745941	36685180	14619386	81	8324											
MAGEB10	139422	broad.mit.edu	37	chrX	27839749	27839749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgatagctttcccagagGccctgtagatgagaaagtaa	10	9	0	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:27839749G>T	ENST00000356790.2	+	3	571	c.326G>T	c.(325-327)gGc>gTc	p.G109V		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	109										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TTTCCCAGAGGCCCTGTAGAT	0.433																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(325-327)gGc>gTc		melanoma antigen family B, 10							51	44	46					X																	27839749		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839749G>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.326G>T	X.37:g.27839749G>T	ENSP00000368304:p.Gly109Val						p.G109V	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	571	+			109					Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.326G>T	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	6.997	0.554038	0.13374	.	.	ENSG00000177689	ENST00000356790	T	0.01725	4.67	2.62	-1.12	0.09808	.	2.059270	0.02888	U	0.133736	T	0.02688	0.0081	L	0.58669	1.825	0.09310	N	1	P	0.42827	0.791	B	0.39419	0.299	T	0.37709	-0.9694	10	0.87932	D	0	.	2.8839	0.05656	0.4159:0.2379:0.3461:0.0	.	109	Q96LZ2	MAGBA_HUMAN	V	109	ENSP00000368304:G109V	ENSP00000368304:G109V	G	+	2	0	MAGEB10	27749670	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.294000	0.19047	-0.403000	0.07622	0.422000	0.28245	GGC		0.433	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		13	59	1	0	5.50884e-06	1	5.922e-06	13	59					T	27839749	G	T	27839749	3	4	67	1	0	0	0	0	1	0	0	0	9214	1203	42	3	328	3	MAGEB10	23	27839749	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		27839749	127430811	82	8325											
MORF4L2	9643	broad.mit.edu	37	chrX	102931572	102931572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagccatggttttaaTtcttcaggaatcttcacttt	5	9	5	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:102931572T>A	ENST00000441076.2	-	4	688	c.384A>T	c.(382-384)gaA>gaT	p.E128D	MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000423833.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	128	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						ATGGTTTTAATTCTTCAGGAA	0.478																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(382-384)gaA>gaT		mortality factor 4 like 2							170	181	177					X																	102931572		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931572T>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.384A>T	X.37:g.102931572T>A	ENSP00000391969:p.Glu128Asp					MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000372620.1_Missense_Mutation_p.E10D|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D	p.E128D			Q15014	MO4L2_HUMAN			3	1609	-			128					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.384A>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178374	0.57692	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	4.58	0.833	0.18875	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.77406	2.37	0.49915	D	0.999839	D	0.55385	0.971	P	0.61722	0.893	T	0.03433	-1.1037	10	0.25106	T	0.35	-4.4154	7.0906	0.25282	0.0:0.4174:0.0:0.5826	.	128	Q15014	MO4L2_HUMAN	D	128;10;128;128;128;110;128;128;128;128;128	ENSP00000353643:E128D;ENSP00000361703:E10D;ENSP00000415476:E128D;ENSP00000394417:E128D;ENSP00000410532:E128D;ENSP00000391969:E128D;ENSP00000416120:E128D;ENSP00000413664:E128D;ENSP00000393283:E128D;ENSP00000400938:E128D	ENSP00000353643:E128D	E	-	3	2	MORF4L2	102818228	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.755000	0.26405	0.035000	0.15519	0.486000	0.48141	GAA		0.478	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		93	641	0	0	0	1	0	93	641					A	102931572	T	A	102931572	3	1	67	1	0	0	0	0	1	0	0	0	9748	1490	52	5	486	5	MORF4L2	23	102931572	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	75091823	102931572	52338988	83	8326											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	139						7	139	---	---	---	---	-	149639327	CAG	-	149639325	7	5	67	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-HV-AA8V-01A-11D-A40W-08	46707753	149639325	5631235	84	8327											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	530						7	530	---	---	---	---	-	149984526	GTG	-	149984524	7	5	67	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HV-AA8V-01A-11D-A40W-08	345199	149984524	5286036	85	8328											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	12	8	3	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		paraneoplastic Ma antigen family member 5							43	44	43					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His					PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H	p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1301	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		25	180	0	0	0	1	0	25	180					T	152159280	C	T	152159280	3	4	67	1	0	0	0	0	1	0	0	0	12198	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	2174756	152159280	3111280	86	8329											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	340						7	340	---	---	---	---	-	154157686	T	-	154157686	7	5	67	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-HV-AA8V-01A-11D-A40W-08	1998406	154157686	1112874	87	8330											
GABRD	2563	broad.mit.edu	37	chr1	1956774	1956774	+	Splice_Site	DEL	C	C	-													ttctgctctttccttgcaggCccccccgtgaatgtggccct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.183delC	c.(181-183)ggc>gg	p.G61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCTTGCAGGCCCCCCCGTGA	0.647																																						ENST00000378585.4																			1	Insertion - Frameshift(1)	p.V64fs*365(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, delta							70	76	74					1																	1956774		2203	4299	6502	SO:0001630	splice_region_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956774delC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1C>-	1.37:g.1956774delC							p.G61_splice	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	266	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	61					Q8N4N9	Splice_Site	DEL	ENST00000378585.4	37	c.181_splice	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	Frame_Shift_Del	7	913						7	913	---	---	---	---	-	1956774	C	-	1956774	8	5	68	1	0	1	0	1	0	0	1	0	6196	753	26	0	193	0	GABRD	1	1956774	Splice_Site	DEL	C	TCGA-HV-AA8X-01A-11D-A397-08		1956774	247293847	1	8331											
PER3	8863	broad.mit.edu	37	chr1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcgccatcgtttttgCcatgtccattcctgggggcg	12	11	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000361923.2	+	17	2774	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P875S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	867	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTTTTGCCATGTCCATT	0.537																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2623-2625)Cca>Tca		period circadian clock 3							179	174	175					1																	7887612		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887612C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2599C>T	1.37:g.7887612C>T	ENSP00000355031:p.Pro867Ser					PER3_ENST00000361923.2_Missense_Mutation_p.P867S	p.P875S			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2847	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	867			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2623C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234770	0.39498	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13196	2.61;2.65	4.32	4.32	0.51571	.	0.845655	0.10846	N	0.627733	T	0.12178	0.0296	L	0.41573	1.285	0.09310	N	0.999997	P;P;P;P	0.46784	0.816;0.816;0.884;0.816	B;B;B;B	0.39152	0.152;0.152;0.292;0.152	T	0.13176	-1.0519	10	0.46703	T	0.11	.	9.4843	0.38919	0.0:0.892:0.0:0.108	.	867;875;875;867	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	875;867;78	ENSP00000366755:P875S;ENSP00000355031:P867S	ENSP00000355031:P867S	P	+	1	0	PER3	7810199	0.001000	0.12720	0.049000	0.19019	0.057000	0.15508	0.675000	0.25232	2.240000	0.73641	0.555000	0.69702	CCA		0.537	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		7	761	0	0	0	1	0	7	761					T	7887612	C	T	7887612	3	4	68	1	0	0	0	0	1	0	0	0	11773	739	26	2	2665	2	PER3	1	7887612	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	5930838	7887612	241363009	2	8332											
RERE	473	broad.mit.edu	37	chr1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtcagcgatgccatgcGctctgcgtggatacgctcgg	15	12	2	0	rs368040659		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1405					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGCCATGCGCTCTGCGTGG	0.642																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4213-4215)Cgc>Tgc		arginine-glutamic acid dipeptide (RE) repeats		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	78	64	69		4213,2551,4213	5.6	1	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	180,180,180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1405/1567,851/1013,1405/1567	8418382	1,12997	2199	4300	6499	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418382G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4213C>T	1.37:g.8418382G>A	ENSP00000338629:p.Arg1405Cys					RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	p.R1405C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4847	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1405					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4213C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347872	0.82022	0.0	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.60548	0.18;0.2;0.18	5.61	5.61	0.85477	.	.	.	.	.	T	0.78065	0.4225	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79732	-0.1680	9	0.87932	D	0	-28.4026	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1405	Q9P2R6	RERE_HUMAN	C	1405;1137;851;1405	ENSP00000338629:R1405C;ENSP00000366684:R1137C;ENSP00000383700:R1405C	ENSP00000338629:R1405C	R	-	1	0	RERE	8340969	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.049000	0.57397	2.793000	0.96121	0.655000	0.94253	CGC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			11	86	0	0	0	1	0	11	86					A	8418382	G	A	8418382	3	1	68	1	0	0	0	0	1	0	0	0	13281	1087	38	1	503	1	RERE	1	8418382	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	530770	8418382	240832239	3	8333											
RAD54L	8438	broad.mit.edu	37	chr1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattctcagtaaggttttgCggcctcatcagagagaggta	11	8	3	2	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0	0.0	5008	,	,		22956	0.001		0.0	False		,,,				2504	0.0					ENST00000371975.4																			1	Substitution - Missense(1)	p.R154W(1)	cervix(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(460-462)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	139	128	132		460,460	3.8	1	1	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	154/748,154/748	46726266	2,13004	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726266C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.460C>T	1.37:g.46726266C>T	ENSP00000361043:p.Arg154Trp					RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	6	1134	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	154					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.460C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614125	0.66672	4.54E-4	0.0	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.95205	-3.64;-3.64	5.75	3.8	0.43715	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	-18.6346	13.7348	0.62811	0.4359:0.5641:0.0:0.0	.	154	Q92698	RAD54_HUMAN	W	154	ENSP00000396113:R154W;ENSP00000361043:R154W	ENSP00000361043:R154W	R	+	1	2	RAD54L	46498853	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	1.055000	0.30467	0.698000	0.31739	0.655000	0.94253	CGG		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		5	342	0	0	0	1	0	5	342					T	46726266	C	T	46726266	3	4	68	1	0	0	0	0	1	0	0	0	13043	759	27	1	482	1	RAD54L	1	46726266	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	38307884	46726266	202524355	4	8334											
DAB1	1600	broad.mit.edu	37	chr1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-													actgcttatccttttgtgccTttttttctaattcttctctt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:57537235delT	ENST00000371231.1	-	5	552	c.518delA	c.(517-519)aagfs	p.K173fs	DAB1_ENST00000371236.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(517-519)agfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							225	198	207					1																	57537235		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57537235delT	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.518delA	1.37:g.57537235delT	ENSP00000360275:p.Lys173fs					DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR	p.K173fs			O75553	DAB1_HUMAN			6	781	-			173			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.518delA																																																																																					0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		8	332						8	332	---	---	---	---	-	57537235	T	-	57537235	7	5	68	1	0	1	0	1	0	0	0	0	4228	1609	56	0	1185	0	DAB1	1	57537235	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	10810969	57537235	191713386	5	8335											
RPRD2	23248	broad.mit.edu	37	chr1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-													tacccccgagagctctccaaTtctgtatctacatatcgacc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000369068.4	+	11	2356	c.2352delT	c.(2350-2352)aatfs	p.N784fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	784	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTCTCCAATTCTGTATCTA	0.507																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2272-2274)aafs		regulation of nuclear pre-mRNA domain containing 2							85	79	81					1																	150443776		1887	4110	5997	SO:0001589	frameshift_variant	23248						protein binding	g.chr1:150443776delT	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2352delT	1.37:g.150443776delT	ENSP00000358064:p.Asn784fs					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Frame_Shift_Del_p.N784fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	p.N758fs			Q5VT52	RPRD2_HUMAN			10	2339	+			784			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Frame_Shift_Del	DEL	ENST00000369068.4	37	c.2274delT	CCDS44216.1																																																																																				0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		106	100						106	100	---	---	---	---	-	150443776	T	-	150443776	7	5	68	1	0	1	0	1	0	0	0	0	13667	1490	52	0	2394	0	RPRD2	1	150443776	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	92906541	150443776	98806845	6	8336											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		9	388						9	388	---	---	---	---	A	183515267	-	A	183515266	7	5	68	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	33071490	183515266	65735355	7	8337											
SYT2	127833	broad.mit.edu	37	chr1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-													ctttgcccttctccttcttgTtcttcttcttcttgcagcag							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_ENST00000367268.4_In_Frame_Del_p.K93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		7	389						7	389	---	---	---	---	-	202573649	TTC	-	202573647	7	5	68	1	0	1	0	1	0	0	0	0	15526	1725	60	0	1006	0	SYT2	1	202573647	In_Frame_Del	DEL	TTC	TCGA-HV-AA8X-01A-11D-A397-08	19058381	202573647	46676974	8	8338											
CR1	1378	broad.mit.edu	37	chr1	207749012	207749012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccattggagcacgaagccGccaatttgtcaacgtgagtt	11	11	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000367051.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.P1058P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4522-4524)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)							291	281	284					1																	207749012		1899	4129	6028	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207749012G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4524G>A	1.37:g.207749012G>A						CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367051.1_Silent_p.P1058P|CR1_ENST00000367052.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA	p.P1508P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			28	4524	+			1058			Sushi 23.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.4524G>A	CCDS44308.1																																																																																				0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	963	0	0	0	1	0	6	963					A	207749012	G	A	207749012	2	1	68	1	0	0	0	0	0	0	0	1	3849	1074	38	1		1	CR1	1	207749012	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	5175365	207749012	41501609	9	8339											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132	118	122					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T							p.R647R	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		6	469	0	0	0	1	0	6	469					T	226037743	C	T	226037743	2	4	68	1	0	0	0	0	0	0	0	1	16242	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	18288731	226037743	23212878	10	8340											
FMN2	56776	broad.mit.edu	37	chr1	240371604	240371604	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggagcgggcatacccccAcctccccctctacccggagc	9	22	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:240371604A>T	ENST00000319653.9	+	5	3722	c.3492A>T	c.(3490-3492)ccA>ccT	p.P1164P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1164	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3490-3492)ccA>ccT		formin 2							4	5	5					1																	240371604		1953	3919	5872	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371604A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3492A>T	1.37:g.240371604A>T							p.P1164P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3722	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1164			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3492A>T	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	43	0	0	0	1	0	4	43					T	240371604	A	T	240371604	2	4	68	1	0	0	0	0	0	0	0	1	5975	146	6	5		5	FMN2	1	240371604	Silent	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	14333861	240371604	8879017	11	8341											
C1orf101	257044	broad.mit.edu	37	chr1	244724041	244724041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatccattcttcttaaGtttgccagattagtaactac	6	10	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000366533.4_Silent_p.K367K|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						CatSper complex (GO:0036128)		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408																																						ENST00000366534.4																			1	Substitution - Missense(1)	p.K367N(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1099-1101)aaG>aaA		chromosome 1 open reading frame 101							95	97	96					1																	244724041		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724041G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1101G>A	1.37:g.244724041G>A						C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000366533.4_Silent_p.K367K	p.K367K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1155	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		367					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1101G>A	CCDS44340.1																																																																																				0.408	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		11	386	0	0	0	1	0	11	386					A	244724041	G	A	244724041	2	1	68	1	0	0	0	0	0	0	0	1	1983	1020	36	2		2	C1orf101	1	244724041	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	4352437	244724041	4526580	12	8342											
SOX11	6664	broad.mit.edu	37	chr2	5833606	5833606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggacgaggaaccaccGcaccagcagctcctgcagcc	13	15	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P	AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	251					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAACCACCGCACCAGCAGC	0.657																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(751-753)ccG>ccA		SRY (sex determining region Y)-box 11							11	10	10					2																	5833606		2070	4101	6171	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833606G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.753G>A	2.37:g.5833606G>A							p.P251P	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	808	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		251					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.753G>A	CCDS1654.1																																																																																				0.657	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		10	28	0	0	0	1	0	10	28					A	5833606	G	A	5833606	2	1	68	1	0	0	0	0	0	0	0	1	14992	1074	38	1		1	SOX11	2	5833606	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		5833606	237365767	13	8343											
C2orf71	388939	broad.mit.edu	37	chr2	29296840	29296840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggatgaagaggttttGgttcctgggatcagtccttc	14	7	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	96					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGAGGTTTTGGTTCCTGGGA	0.483																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(286-288)acC>acT		chromosome 2 open reading frame 71							250	234	239					2																	29296840		1943	4137	6080	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296840G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.288C>T	2.37:g.29296840G>A							p.T96T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	287	-			96						Silent	SNP	ENST00000331664.5	37	c.288C>T	CCDS42669.1																																																																																				0.483	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		184	392	0	0	0	1	0	184	392					A	29296840	G	A	29296840	2	1	68	1	0	0	0	0	0	0	0	1	2198	1335	47	2		2	C2orf71	2	29296840	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	23463234	29296840	213902533	14	8344											
VWA3B	200403	broad.mit.edu	37	chr2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccccgcggccgggcGtctaggactcagcagccacg	12	18	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1256										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						GCGGCCGGGCGTCTAGGACTC	0.607																																						ENST00000477737.1																			0				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						c.(3766-3768)cGt>cAt		von Willebrand factor A domain containing 3B							48	57	54					2																	98928694		2088	4216	6304	SO:0001583	missense	200403							g.chr2:98928694G>A	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.3767G>A	2.37:g.98928694G>A	ENSP00000417955:p.Arg1256His					VWA3B_ENST00000490947.2_3'UTR	p.R1256H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			28	3971	+			1256					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3767G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136653	0.21123	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	T	0.07216	3.21	4.09	-2.35	0.06684	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.41466	-0.9507	9	0.39692	T	0.17	.	1.1526	0.01789	0.3414:0.1436:0.3684:0.1466	.	1256	Q502W6	VWA3B_HUMAN	H	1256;722;378	ENSP00000417955:R1256H	ENSP00000351009:R378H	R	+	2	0	VWA3B	98295126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.062000	0.11674	-0.480000	0.06803	-1.121000	0.02013	CGT		0.607	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		68	112	0	0	0	1	0	68	112					A	98928694	G	A	98928694	3	1	68	1	0	0	0	0	1	0	0	0	17295	1145	40	1	3873	1	VWA3B	2	98928694	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	69631854	98928694	144270679	15	8345											
RGPD3	653489	broad.mit.edu	37	chr2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33	53	47					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	1679						9	1679	---	---	---	---	-	107041534	A	-	107041534	7	5	68	1	0	1	0	1	0	0	0	0	13337	127	5	0	2403	0	RGPD3	2	107041534	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	8112840	107041534	136157839	16	8346											
DPP10	57628	broad.mit.edu	37	chr2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaactgggaagtaacagCcctccacagagaaactggaa	11	9	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000393147.2_Missense_Mutation_p.S30R|DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(76-78)agC>agA		dipeptidyl-peptidase 10 (non-functional)							185	170	175					2																	116066832		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066832C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.78C>A	2.37:g.116066832C>A	ENSP00000386565:p.Ser26Arg					DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	p.S26R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	558	+			26			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.78C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011923	0.35511	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.6	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.66939	2.045	0.49389	D	0.999782	B;B;B;B	0.34103	0.331;0.437;0.113;0.192	B;B;B;B	0.32342	0.144;0.117;0.046;0.046	T	0.48139	-0.9061	10	0.87932	D	0	-1.0384	10.6572	0.45682	0.0:0.7958:0.0:0.2042	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	R	26;22;30;19	ENSP00000386565:S26R;ENSP00000376854:S22R;ENSP00000376855:S30R;ENSP00000309066:S19R	ENSP00000309066:S19R	S	+	3	2	DPP10	115783302	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.653000	0.24902	1.369000	0.46134	0.655000	0.94253	AGC		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		48	129	1	0	6.17242e-35	1	6.69687e-35	48	129					A	116066832	C	A	116066832	3	1	68	1	0	0	0	0	1	0	0	0	4743	738	26	3	255	3	DPP10	2	116066832	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	9025298	116066832	127132541	17	8347											
NEB	4703	broad.mit.edu	37	chr2	152420121	152420121	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggacatttacttaccGcactcctcatcttttggaaa	6	10	2	0	rs375357016		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000172853.10	-	91	13736	c.13589C>T	c.(13588-13590)gCg>gTg	p.A4530V	NEB_ENST00000397345.3_Splice_Site_p.A6231V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000603639.1_Splice_Site_p.A6231V			P20929	NEBU_HUMAN	nebulin	4530					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.A4530E(1)|p.A6231E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACCGCACTCCTCAT	0.473																																						ENST00000397345.3																			2	Substitution - Missense(2)	p.A4530E(1)|p.A6231E(1)	endometrium(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						c.e119+1		nebulin		G	VAL/ALA,VAL/ALA,VAL/ALA	1,3955		0,1,1977	234	222	226		13589,18692,18692	-5	0.5	2		226	0,8318		0,0,4159	no	missense-near-splice,missense-near-splice,missense-near-splice	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	64,64,64	0,1,6136	AA,AG,GG		0.0,0.0253,0.0081	benign,benign,benign	4530/6670,6231/8526,6231/8526	152420121	1,12273	1978	4159	6137	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420121G>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.13590+1C>T	2.37:g.152420121G>A						NEB_ENST00000427231.2_Splice_Site_p.A6231_splice|NEB_ENST00000409198.1_Splice_Site_p.A4530_splice|NEB_ENST00000603639.1_Splice_Site_p.A6231_splice|NEB_ENST00000172853.10_Splice_Site_p.A4530_splice|NEB_ENST00000604864.1_Splice_Site_p.A6231_splice	p.A6231_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18894	-			6213					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.18693_splice		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225906	0.39300	2.53E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.54	-4.98	0.03019	.	0.604415	0.18713	N	0.133230	T	0.22859	0.0552	L	0.44542	1.39	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.01805	-1.1270	10	0.39692	T	0.17	.	14.0005	0.64431	0.6299:0.0:0.3701:0.0	.	4530;961	P20929;Q14215	NEBU_HUMAN;.	V	4530;6231;6231;579;961;4530	ENSP00000386259:A4530V;ENSP00000380505:A6231V;ENSP00000416578:A6231V;ENSP00000410961:A961V;ENSP00000172853:A4530V	ENSP00000172853:A4530V	A	-	2	0	NEB	152128367	0.876000	0.30132	0.537000	0.28052	0.860000	0.49131	0.075000	0.14686	-1.451000	0.01933	-0.259000	0.10710	GCG		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation	193	595	0	0	0	1	0	193	595					A	152420121	G	A	152420121	5	1	68	1	0	0	0	0	0	0	1	0	10344	1101	38	1	7250	1	NEB	2	152420121	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	36353289	152420121	90779252	18	8348											
TTN	7273	broad.mit.edu	37	chr2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttcagggtttttgggcGgatcagggggtccataagga	15	7	3	0	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000591111.1	-	276	67975	c.67751C>T	c.(67750-67752)cCg>cTg	p.P22584L	TTN_ENST00000589042.1_Missense_Mutation_p.P24225L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22584	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTGGGCGGATCAGGGGG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				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						c.(72673-72675)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,3808		0,0,1904	99	99	99		45479,64970,45854,46055	6.1	1	2	dbSNP_129	99	3,8251		0,3,4124	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,3,6028	AA,AG,GG		0.0363,0.0,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	15160/26927,21657/33424,15285/27052,15352/27119	179438185	3,12059	1904	4127	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438185G>A	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.67751C>T	2.37:g.179438185G>A	ENSP00000465570:p.Pro22584Leu					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22584L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.P24225L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72898	-			22584			Ig-like 121.		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.72674C>T		.	.	.	.	.	.	.	.	.	.	G	15.34	2.804563	0.50315	0.0	3.63E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84656	0.5520	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87855	0.2660	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	rs55992239	15160;15285;15352;22584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21657;15160;15352;15285;15158	ENSP00000343764:P21657L;ENSP00000434586:P15160L;ENSP00000340554:P15352L;ENSP00000352154:P15285L	ENSP00000340554:P15352L	P	-	2	0	TTN	179146431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	472	0	0	0	1	0	5	472					A	179438185	G	A	179438185	3	1	68	1	0	0	0	0	1	0	0	0	16789	1116	39	1	35453	1	TTN	2	179438185	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	27018064	179438185	63761188	19	8349											
TTN	7273	broad.mit.edu	37	chr2	179635138	179635138	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttctaaatcaacttaCtctccacgtgcagtctggca	7	11	4	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000591111.1	-	35	8605		c.e35+1		TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCAACTTACTCTCCACGTG	0.433																																						ENST00000589042.1																			0				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						c.e35+1		titin							70	69	69					2																	179635138		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635138C>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.8380+1G>A	2.37:g.179635138C>T						TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000585451.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8605	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	21.0	4.080897	0.76528	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179343383	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	11	363	0	0	0	1	0	11	363					T	179635138	C	T	179635138	5	4	68	1	0	0	0	0	0	0	1	0	16789	579	20	2	102919	2	TTN	2	179635138	Splice_Site	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	196953	179635138	63564235	20	8350											
FN1	2335	broad.mit.edu	37	chr2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttcaggcctttgatgGtgtaggagtttaagtggcct	14	7	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000359671.1	-	14	2265	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000354785.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1	667	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTTTGATGGTGTAGGAGTT	0.488																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1999-2001)aCc>aTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						180	171	174					2																	216274779		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274779G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2000C>T	2.37:g.216274779G>A	ENSP00000352696:p.Thr667Ile					FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000359671.1_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I	p.T667I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2369	-		Renal(323;0.127)	667			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2000C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187476	0.78789	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.65	2.88	0.33553	.	0.312951	0.30969	N	0.008503	T	0.67711	0.2922	L	0.55990	1.75	0.80722	D	1	D;D;P;P;P;D;D;P;P;D	0.89917	1.0;0.999;0.85;0.894;0.913;1.0;1.0;0.894;0.894;1.0	D;D;P;P;P;D;D;P;P;D	0.91635	0.999;0.995;0.521;0.701;0.711;0.989;0.999;0.701;0.701;0.999	T	0.65429	-0.6170	10	0.41790	T	0.15	.	10.4784	0.44678	0.2083:0.0:0.7917:0.0	.	667;667;667;667;667;667;667;667;667;667	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	I	667	ENSP00000394423:T667I;ENSP00000323534:T667I;ENSP00000338200:T667I;ENSP00000350534:T667I;ENSP00000346839:T667I;ENSP00000352696:T667I;ENSP00000265312:T667I;ENSP00000273049:T667I;ENSP00000349509:T667I;ENSP00000410422:T667I;ENSP00000415018:T667I;ENSP00000399538:T667I;ENSP00000348285:T667I	ENSP00000265313:T667I	T	-	2	0	FN1	215983024	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.754000	0.68743	0.870000	0.35726	0.655000	0.94253	ACC		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		107	103	0	0	0	1	0	107	103					A	216274779	G	A	216274779	3	1	68	1	0	0	0	0	1	0	0	0	5987	1261	44	2	5565	2	FN1	2	216274779	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	36639641	216274779	26924594	21	8351											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	239						8	239	---	---	---	---	T	234394237	-	T	234394236	7	5	68	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	18119457	234394236	8805137	22	8352											
CAND2	23066	broad.mit.edu	37	chr3	12856671	12856671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacagcgatgacgatgaCatgagctggaaggtgcgccg	16	8	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	346	Poly-Asp.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGACGATGACATGAGCTGGA	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1036-1038)gaC>gaT		cullin-associated and neddylation-dissociated 2 (putative)							60	67	65					3																	12856671		2156	4255	6411	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856671C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1038C>T	3.37:g.12856671C>T						CAND2_ENST00000295989.5_Silent_p.D253D	p.D346D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1079	+			346			Poly-Asp.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1038C>T	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		65	74	0	0	0	1	0	65	74					T	12856671	C	T	12856671	2	4	68	1	0	0	0	0	0	0	0	1	2623	477	17	2		2	CAND2	3	12856671	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		12856671	185165759	23	8353											
NEK10	152110	broad.mit.edu	37	chr3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaatcttacctgcttAtgagtctatttttcaccaag	6	9	3	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	119					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCTGCTTATGAGTCTATT	0.368																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(355-357)aTa>aAa		NIMA-related kinase 10							96	80	85					3																	27385769		1566	3579	5145	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27385769A>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.356T>A	3.37:g.27385769A>T	ENSP00000395849:p.Ile119Lys					NEK10_ENST00000341435.5_Missense_Mutation_p.I119K	p.I119K			Q6ZWH5	NEK10_HUMAN			6	718	-			119					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.356T>A		.	.	.	.	.	.	.	.	.	.	A	14.38	2.516764	0.44763	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750	T;T	0.69806	-0.43;1.43	5.77	4.6	0.57074	.	0.321330	0.34362	N	0.004032	T	0.43322	0.1242	N	0.08118	0	0.80722	D	1	B	0.27068	0.167	B	0.23275	0.045	T	0.39165	-0.9627	10	0.59425	D	0.04	.	7.8361	0.29371	0.7204:0.1429:0.0:0.1367	.	119	Q6ZWH5	NEK10_HUMAN	K	119	ENSP00000343847:I119K;ENSP00000395338:I119K	ENSP00000343847:I119K	I	-	2	0	NEK10	27360773	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.392000	0.34486	1.093000	0.41377	0.533000	0.62120	ATA		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		61	68	0	0	0	1	0	61	68					T	27385769	A	T	27385769	3	4	68	1	0	0	0	0	1	0	0	0	10364	449	16	5	1862	5	NEK10	3	27385769	Missense_Mutation	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	14529098	27385769	170636661	24	8354											
STAB1	23166	broad.mit.edu	37	chr3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccactttgagacccGgcccctgcgactggtgaggg	14	13	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1879					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGAGACCCGGCCCCTGCGA	0.652																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5635-5637)cGg>cAg		stabilin 1							45	44	44					3																	52554552		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554552G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5636G>A	3.37:g.52554552G>A	ENSP00000312946:p.Arg1879Gln						p.R1879Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	53	5712	+			1879					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5636G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579134	0.13686	.	.	ENSG00000010327	ENST00000321725	D	0.84442	-1.85	5.58	-3.3	0.05003	.	0.623306	0.16047	N	0.232123	T	0.56863	0.2014	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.48603	-0.9021	10	0.25751	T	0.34	.	1.1024	0.01687	0.4049:0.1113:0.1451:0.3386	.	1879	Q9NY15	STAB1_HUMAN	Q	1879	ENSP00000312946:R1879Q	ENSP00000312946:R1879Q	R	+	2	0	STAB1	52529592	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.111000	0.15458	-0.269000	0.09298	-0.136000	0.14681	CGG		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		45	71	0	0	0	1	0	45	71					A	52554552	G	A	52554552	3	1	68	1	0	0	0	0	1	0	0	0	15289	1116	39	1	5846	1	STAB1	3	52554552	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	25168783	52554552	145467878	25	8355											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	398						7	398	---	---	---	---	-	113380090	T	-	113380090	7	5	68	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	60825538	113380090	84642340	26	8356											
TXNRD3IT1	645840	broad.mit.edu	37	chr3	126291164	126291164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtacagatctggcttgcaGtgccctggagatcttcagta	13	9	3	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:126291164G>T	ENST00000404489.2	-	1	315	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.L75M			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	75										endometrium(1)|large_intestine(2)|skin(2)	5						ctggcttgcagtgccctggAG	0.542																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(223-225)Ctg>Atg		thioredoxin reductase 3 neighbor							59	60	60					3																	126291164		2203	4300	6503	SO:0001583	missense	645840							g.chr3:126291164G>T	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"thioredoxin reductase 3 new transcript 1"		"thioredoxin reductase 3 intronic transcript 1"	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.223C>A	3.37:g.126291164G>T	ENSP00000384071:p.Leu75Met					TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L75M	p.L75M	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			3	701	-			75						Missense_Mutation	SNP	ENST00000404489.2	37	c.223C>A	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729854	0.03135	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.72982	0.979	T	0.22312	-1.0220	7	0.87932	D	0	.	.	.	.	.	75	Q6F5E7	TR3N_HUMAN	M	75	.	ENSP00000373066:L75M	L	-	1	2	TXNRD3NB	127773854	0.001000	0.12720	0.003000	0.11579	0.012000	0.07955	0.026000	0.13599	0.639000	0.30564	0.467000	0.42956	CTG		0.542	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		58	162	1	0	1.4709e-25	1	1.56519e-25	58	162					T	126291164	G	T	126291164	3	4	68	1	0	0	0	0	1	0	0	0	16863	1020	36	3	186	3	TXNRD3IT1	3	126291164	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	12911074	126291164	71731266	27	8357											
HPS3	84343	broad.mit.edu	37	chr3	148875180	148875180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtcaaaacccagagctGcattcaccttctcagtgagg	9	12	3	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:148875180G>A	ENST00000296051.2	+	9	1693	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	518					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCAGAGCTGCATTCACCTT	0.448									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1552-1554)tGc>tAc		Hermansky-Pudlak syndrome 3							112	98	103					3																	148875180		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148875180G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1553G>A	3.37:g.148875180G>A	ENSP00000296051:p.Cys518Tyr					HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	p.C518Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1693	+			518					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1553G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618932	0.28801	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.60299	0.2;0.2	5.68	5.68	0.88126	.	0.107611	0.64402	D	0.000005	T	0.71195	0.3311	L	0.55103	1.725	0.48571	D	0.999674	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.63010	-0.6732	10	0.15499	T	0.54	-14.6517	19.7964	0.96487	0.0:0.0:1.0:0.0	.	353;518	G5E9V4;Q969F9	.;HPS3_HUMAN	Y	518;353	ENSP00000296051:C518Y;ENSP00000418230:C353Y	ENSP00000296051:C518Y	C	+	2	0	HPS3	150357870	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.884000	0.56175	2.702000	0.92279	0.655000	0.94253	TGC		0.448	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		5	319	0	0	0	1	0	5	319					A	148875180	G	A	148875180	3	1	68	1	0	0	0	0	1	0	0	0	7370	1319	46	2	1587	2	HPS3	3	148875180	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	22584016	148875180	49147250	28	8358											
GPR171	29909	broad.mit.edu	37	chr3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcaatcagttatgaCttctgtctggctgagggtat	13	6	3	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTTATGACTTCTGTCTGG	0.458																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(757-759)Gtc>Atc		G protein-coupled receptor 171							112	110	110					3																	150916417		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916417C>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.757G>A	3.37:g.150916417C>T	ENSP00000308479:p.Val253Ile					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.V253I	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	987	-			253					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.757G>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016594	0.35606	.	.	ENSG00000174946	ENST00000309180	T	0.20738	2.05	5.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.245951	0.32028	N	0.006693	T	0.12944	0.0314	L	0.33485	1.01	0.31077	N	0.712308	B	0.10296	0.003	B	0.13407	0.009	T	0.22730	-1.0208	10	0.19147	T	0.46	-10.4765	6.008	0.19557	0.2855:0.5747:0.0:0.1398	.	253	O14626	GP171_HUMAN	I	253	ENSP00000308479:V253I	ENSP00000308479:V253I	V	-	1	0	GPR171	152399107	0.035000	0.19736	0.207000	0.23584	0.987000	0.75469	0.419000	0.21247	0.241000	0.21283	0.650000	0.86243	GTC		0.458	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	241	0	0	0	1	0	4	241					T	150916417	C	T	150916417	3	4	68	1	0	0	0	0	1	0	0	0	6697	565	20	2	206	2	GPR171	3	150916417	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	2041237	150916417	47106013	29	8359											
GAK	2580	broad.mit.edu	37	chr4	845556	845556	+	Frame_Shift_Del	DEL	C	C	-													accaaagctgggtgcgcggaCcccccgctcctcccgcgccc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:845556delC	ENST00000314167.4	-	25	3600	c.3490delG	c.(3490-3492)gtcfs	p.V1164fs	GAK_ENST00000511163.1_Frame_Shift_Del_p.V1085fs|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1164					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGTGCGCGGACCCCCCGCTCC	0.592																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3490-3492)tcfs		cyclin G associated kinase							37	42	40					4																	845556		2203	4293	6496	SO:0001589	frameshift_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845556delC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3490delG	4.37:g.845556delC	ENSP00000314499:p.Val1164fs					GAK_ENST00000511163.1_Frame_Shift_Del_p.V1085fs|GAK_ENST00000509566.1_5'UTR	p.V1164fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3600	-			1164					Q5U4P5|Q9BVY6	Frame_Shift_Del	DEL	ENST00000314167.4	37	c.3490delG	CCDS3340.1																																																																																				0.592	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		8	3116						8	3116	---	---	---	---	-	845556	C	-	845556	7	5	68	1	0	1	0	1	0	0	0	0	6223	507	18	0	461	0	GAK	4	845556	Frame_Shift_Del	DEL	C	TCGA-HV-AA8X-01A-11D-A397-08		845556	190308720	30	8360											
DGKQ	1609	broad.mit.edu	37	chr4	956369	956369	+	Frame_Shift_Del	DEL	C	C	-													gtcctcgccgctgtagcccgCcccccagcggaggactcgac							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:956369delC	ENST00000273814.3	-	18	2141	c.2068delG	c.(2068-2070)gcgfs	p.A690fs	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	690	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGTAGCCCGCCCCCCAGCGG	0.657																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2068-2070)cgfs		diacylglycerol kinase, theta 110kDa							43	42	42					4																	956369		2198	4299	6497	SO:0001589	frameshift_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956369delC	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2068delG	4.37:g.956369delC	ENSP00000273814:p.Ala690fs						p.A690fs	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2141	-			690			DAGKc.		Q6P3W4	Frame_Shift_Del	DEL	ENST00000273814.3	37	c.2068delG	CCDS3342.1																																																																																				0.657	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			8	2126						8	2126	---	---	---	---	-	956369	C	-	956369	7	5	68	1	0	1	0	1	0	0	0	0	4489	739	26	0	784	0	DGKQ	4	956369	Frame_Shift_Del	DEL	C	TCGA-HV-AA8X-01A-11D-A397-08	110813	956369	190197907	31	8361											
CRIPAK	285464	broad.mit.edu	37	chr4	1388722	1388722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcctgctcacacgtgCccatgcggagtgcccgcctg	12	18	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1388722C>T	ENST00000324803.4	+	1	3383	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	141					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCCATGCGGAG	0.697																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(421-423)tgC>tgT		cysteine-rich PAK1 inhibitor							37	35	36					4																	1388722		1907	3673	5580	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388722C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.423C>T	4.37:g.1388722C>T							p.C141C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3383	+			141					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.423C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.335	0.247132	0.10130	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-0.286	0.12862	.	.	.	.	.	T	0.28532	0.0706	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29971	-0.9994	5	0.54805	T	0.06	.	2.9357	0.05814	0.3054:0.3898:0.3048:0.0	.	.	.	.	S	125	.	ENSP00000372402:P125S	P	+	1	0	CRIPAK	1378722	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.190000	0.03058	-0.076000	0.12775	0.121000	0.15741	CCC		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		15	2672	0	0	0	1	0	15	2672					T	1388722	C	T	1388722	2	4	68	1	0	0	0	0	0	0	0	1	3886	747	26	2		2	CRIPAK	4	1388722	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	432353	1388722	189765554	32	8362											
WHSC1	7468	broad.mit.edu	37	chr4	1936885	1936885	+	Frame_Shift_Del	DEL	A	A	-													tccaaggtaatgtaaatgggAaaaaaagaaaccacacaaag							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1936885delA	ENST00000382895.3	+	9	2001	c.1570delA	c.(1570-1572)aaafs	p.K525fs	WHSC1_ENST00000503128.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000420906.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K525fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	525					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTAAATGGGAAAAAAAGAAA	0.463			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(1570-1572)aafs		Wolf-Hirschhorn syndrome candidate 1							97	94	95					4																	1936885		2203	4300	6503	SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1936885delA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1570delA	4.37:g.1936885delA	ENSP00000372351:p.Lys525fs					WHSC1_ENST00000420906.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382895.3_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.K525fs	p.K525fs			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	7	1777	+		all_epithelial(65;1.34e-05)	525					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	ENST00000382895.3	37	c.1570delA	CCDS33940.1																																																																																				0.463	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		9	902						9	902	---	---	---	---	-	1936885	A	-	1936885	7	5	68	1	0	1	0	1	0	0	0	0	17416	247	9	0	1592	0	WHSC1	4	1936885	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	548163	1936885	189217391	33	8363											
MAD2L1	4085	broad.mit.edu	37	chr4	120987848	120987848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgatttcggcgctcccGcgcagggtgattccctgctc	12	16	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:120987848G>A	ENST00000296509.6	-	1	381	c.42C>T	c.(40-42)cgC>cgT	p.R14R	RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	14	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CGGCGCTCCCGCGCAGGGTGA	0.632																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(40-42)cgC>cgT		MAD2 mitotic arrest deficient-like 1 (yeast)							38	40	39					4																	120987848		2203	4300	6503	SO:0001819	synonymous_variant	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120987848G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.42C>T	4.37:g.120987848G>A							p.R14R	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			1	381	-			14			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	ENST00000296509.6	37	c.42C>T	CCDS3715.1																																																																																				0.632	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			5	209	0	0	0	1	0	5	209					A	120987848	G	A	120987848	2	1	68	1	0	0	0	0	0	0	0	1	9187	1074	38	1		1	MAD2L1	4	120987848	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	119050963	120987848	70166428	34	8364											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaacccctcggccagagCgcagctgctgcccgacgctg	11	19	0	1	rs550504360		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1022	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						TCGGCCAGAGCGCAGCTGCTG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17388	0.0		0.0	False		,,,				2504	0.001					ENST00000274181.7																			0				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						c.(3064-3066)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 16							42	51	48					5																	5303758		2155	4269	6424	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303758C>T	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.3065C>T	5.37:g.5303758C>T	ENSP00000274181:p.Ala1022Val						p.A1022V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			20	3203	+			1022			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3065C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580800	0.28180	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.79	4.79	0.61399	.	0.128592	0.52532	D	0.000076	T	0.43211	0.1237	L	0.33753	1.03	0.32102	N	0.590414	B;B	0.25719	0.132;0.101	B;B	0.23716	0.048;0.03	T	0.51671	-0.8676	10	0.36615	T	0.2	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1022;1022	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	1022	ENSP00000274181:A1022V	ENSP00000274181:A1022V	A	+	2	0	ADAMTS16	5356758	0.630000	0.27155	0.040000	0.18447	0.026000	0.11368	3.024000	0.49674	2.359000	0.80004	0.650000	0.86243	GCG		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	163	0	0	0	1	0	5	163					T	5303758	C	T	5303758	3	4	68	1	0	0	0	0	1	0	0	0	261	768	27	1	3143	1	ADAMTS16	5	5303758	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		5303758	175611502	35	8365											
CCNO	10309	broad.mit.edu	37	chr5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgggccgcgagacccGcagcatgcggtccgccagcg	15	17	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	296					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCGAGACCCGCAGCATGCGG	0.667																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(886-888)Cgg>Tgg		cyclin O							34	36	35					5																	54527370		2203	4299	6502	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527370G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.886C>T	5.37:g.54527370G>A	ENSP00000282572:p.Arg296Trp						p.R296W	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1042	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	296					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.886C>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540955	0.45280	.	.	ENSG00000152669	ENST00000282572	T	0.44881	0.91	5.61	-1.39	0.08997	Cyclin, C-terminal (1);Cyclin-like (3);	1.557100	0.03904	N	0.280760	T	0.30823	0.0777	N	0.14661	0.345	0.09310	N	1	D	0.58620	0.983	P	0.47376	0.545	T	0.28004	-1.0057	10	0.72032	D	0.01	.	5.1563	0.15036	0.0643:0.1857:0.3444:0.4056	.	296	P22674	CCNO_HUMAN	W	296	ENSP00000282572:R296W	ENSP00000282572:R296W	R	-	1	2	CCNO	54563127	0.030000	0.19436	0.006000	0.13384	0.430000	0.31655	0.723000	0.25939	0.006000	0.14734	-0.500000	0.04577	CGG		0.667	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		47	126	0	0	0	1	0	47	126					A	54527370	G	A	54527370	3	1	68	1	0	0	0	0	1	0	0	0	2942	1086	38	1	170	1	CCNO	5	54527370	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	49223612	54527370	126387890	36	8366											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-													atcacatctgctgttgatggAaaaaatatagtcaggagcaa							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					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)			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)		CTGTTGATGGAAAAAATATAG	0.378																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2719-2721)ggfs		erbb2 interacting protein							571	551	558					5																	65349867		2203	4300	6503	SO:0001589	frameshift_variant	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.chr5:65349867delA		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.2721delA	5.37:g.65349867delA	ENSP00000284037:p.Gly907fs					ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs	p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3110	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	907					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	ENST00000284037.5	37	c.2721delA	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		7	1346						7	1346	---	---	---	---	-	65349867	A	-	65349867	7	5	68	1	0	1	0	1	0	0	0	0	5225	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	10822497	65349867	115565393	37	8367											
ZFYVE16	9765	broad.mit.edu	37	chr5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catttgtcctaaatgctaatCtactcgtgaatgtcaaattc	5	9	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1067					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)			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)		AAATGCTAATCTACTCGTGAA	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(3199-3201)Cta>Gta		zinc finger, FYVE domain containing 16							137	126	130					5																	79745505		2202	4299	6501	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.chr5:79745505C>G	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.3199C>G	5.37:g.79745505C>G	ENSP00000337159:p.Leu1067Val					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	p.L1067V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	8	3379	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1067					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3199C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352893	0.61293	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.91	5.91	0.95273	.	0.000000	0.49305	D	0.000142	T	0.75057	0.3798	M	0.71036	2.16	0.49687	D	0.999811	D	0.65815	0.995	D	0.64144	0.922	T	0.77099	-0.2713	10	0.87932	D	0	-8.6405	11.5991	0.50993	0.0:0.8886:0.0:0.1114	.	1067	Q7Z3T8	ZFY16_HUMAN	V	1067	ENSP00000337159:L1067V;ENSP00000423663:L1067V;ENSP00000426848:L1067V	ENSP00000337159:L1067V	L	+	1	2	ZFYVE16	79781261	1.000000	0.71417	0.991000	0.47740	0.459000	0.32528	3.339000	0.52135	2.804000	0.96469	0.650000	0.86243	CTA		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		112	314	0	0	0	1	0	112	314					G	79745505	C	G	79745505	3	3	68	1	0	0	0	0	1	0	0	0	17717	912	32	5	3225	5	ZFYVE16	5	79745505	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	14395638	79745505	101169755	38	8368											
NR2F1	7025	broad.mit.edu	37	chr5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcgtcgtggccttcatgGaccacatccgcatcttccag	9	16	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	297					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGCCTTCATGGACCACATCCG	0.657																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(889-891)Gac>Aac		nuclear receptor subfamily 2, group F, member 1							40	40	40					5																	92924048		2202	4300	6502	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92924048G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.889G>A	5.37:g.92924048G>A	ENSP00000325819:p.Asp297Asn						p.D297N	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2576	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	297						Missense_Mutation	SNP	ENST00000327111.3	37	c.889G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521082	0.96416	.	.	ENSG00000175745	ENST00000327111	D	0.96967	-4.19	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.170267	0.49305	D	0.000157	D	0.97486	0.9177	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98117	1.0423	10	0.62326	D	0.03	.	16.543	0.84407	0.0:0.0:1.0:0.0	.	297	P10589	COT1_HUMAN	N	297	ENSP00000325819:D297N	ENSP00000325819:D297N	D	+	1	0	NR2F1	92949804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.535000	0.98064	2.205000	0.71048	0.313000	0.20887	GAC		0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		48	252	0	0	0	1	0	48	252					A	92924048	G	A	92924048	3	1	68	1	0	0	0	0	1	0	0	0	10669	1174	41	2	895	2	NR2F1	5	92924048	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	13178543	92924048	87991212	39	8369											
TRIM36	55521	broad.mit.edu	37	chr5	114506859	114506859	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagtctgtcgctgtggCaagttccgtcgtcttcccac	12	12	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:114506859C>T	ENST00000282369.3	-	2	185				TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000379618.2_Missense_Mutation_p.A42T|TRIM36_ENST00000513154.1_5'Flank|TRIM36_ENST00000515104.1_5'Flank	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTCGCTGTGGCAAGTTCCGTC	0.473																																						ENST00000379618.2																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(124-126)Gcc>Acc		tripartite motif containing 36							161	171	168					5																	114506859		2202	4300	6502	SO:0001627	intron_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114506859C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-7410G>A	5.37:g.114506859C>T						TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Intron	p.A42T	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	632	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	0					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.124G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874607	0.51695	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.72	-0.427	0.12310	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.27400	-1.0075	7	0.87932	D	0	.	4.467	0.11694	0.2814:0.5796:0.0:0.139	.	42	Q0P5Z9	.	T	42	.	ENSP00000368938:A42T	A	-	1	0	TRIM36	114534758	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	0.007000	0.13174	-0.114000	0.11936	0.585000	0.79938	GCC		0.473	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		97	206	0	0	0	1	0	97	206					T	114506859	C	T	114506859	1	4	68	0	1	0	0	0	0	0	0	0	16563	710	25	2		2	TRIM36	5	114506859	Intron	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	21582811	114506859	66408401	40	8370											
DMXL1	1657	broad.mit.edu	37	chr5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccaggactttgtgatGcatgtaagtatttttgaatg	9	6	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1076										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)		ACTTTGTGATGCATGTAAGTA	0.413																																						ENST00000311085.8																			0				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						c.(3226-3228)atG>atT		Dmx-like 1							156	158	158					5																	118484750		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484750G>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.3228G>T	5.37:g.118484750G>T	ENSP00000309690:p.Met1076Ile					DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3308	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1076						Missense_Mutation	SNP	ENST00000311085.8	37	c.3228G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339688	0.41398	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.30182	1.54;1.54	5.65	5.65	0.86999	.	0.039008	0.85682	D	0.000000	T	0.31949	0.0813	L	0.42581	1.335	0.51012	D	0.999902	B;B	0.21821	0.061;0.021	B;B	0.19946	0.027;0.012	T	0.03278	-1.1053	10	0.41790	T	0.15	-15.3466	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1076;1076	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1076	ENSP00000309690:M1076I;ENSP00000439479:M1076I	ENSP00000309690:M1076I	M	+	3	0	DMXL1	118512649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.824000	0.97209	0.655000	0.94253	ATG		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		59	319	1	0	7.89702e-26	1	8.45746e-26	59	319					T	118484750	G	T	118484750	3	4	68	1	0	0	0	0	1	0	0	0	4610	1319	46	3	3298	3	DMXL1	5	118484750	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	3977891	118484750	62430510	41	8371											
CD14	929	broad.mit.edu	37	chr5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-													cgcagagacgtgcaccagcgGcagcagcagcagcaacaagc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ctgccg>ccg	p.L12del	CD14_ENST00000401743.2_In_Frame_Del_p.L12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635																																						ENST00000302014.6																			1	Substitution - Missense(1)	p.P13S(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(34-39)ccg>c		CD14 molecule																																				SO:0001651	inframe_deletion	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012532_140012534delGCA		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.35_37delTGC	5.37:g.140012541_140012543delGCA	ENSP00000304236:p.Leu12del					CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	664_666	-			12					Q53XT5|Q96FR6|Q96L99|Q9UNS3	In_Frame_Del	DEL	ENST00000302014.6	37	c.35_37delTGC	CCDS4232.1																																																																																				0.635	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	173						7	173	---	---	---	---	-	140012534	GCA	-	140012532	7	5	68	1	0	1	0	1	0	0	0	0	2973	1203	42	0	1094	0	CD14	5	140012532	In_Frame_Del	DEL	GCA	TCGA-HV-AA8X-01A-11D-A397-08	21527782	140012532	40902728	42	8372											
PCDHA8	56140	broad.mit.edu	37	chr5	140222650	140222650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcgagcaagctggtgCcgcggtctgtgggcgcgggc	20	12	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140222650C>T	ENST00000531613.1	+	1	1744	c.1744C>T	c.(1744-1746)Ccg>Tcg	p.P582S	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	582	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)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGGTGCCGCGGTCTGT	0.682																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1744-1746)Ccg>Tcg									54	58	56					5																	140222650		2195	4260	6455	SO:0001583	missense	0							g.chr5:140222650C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1744C>T	5.37:g.140222650C>T	ENSP00000434655:p.Pro582Ser					PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.P582S	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1744	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1744C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336787	0.24253	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20463	2.07;2.07	3.5	-7.0	0.01599	Cadherin (2);Cadherin-like (1);	0.842667	0.09628	N	0.776582	T	0.09598	0.0236	N	0.16233	0.39	0.09310	N	1	B;B	0.21071	0.051;0.041	B;B	0.16722	0.016;0.009	T	0.28490	-1.0042	10	0.28530	T	0.3	.	7.616	0.28158	0.0:0.4823:0.2798:0.2379	.	582;582	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	S	582	ENSP00000434655:P582S;ENSP00000367363:P582S	ENSP00000367363:P582S	P	+	1	0	PCDHA8	140202834	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.284000	0.18864	-2.061000	0.00892	0.306000	0.20318	CCG		0.682	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		5	341	0	0	0	1	0	5	341					T	140222650	C	T	140222650	3	4	68	1	0	0	0	0	1	0	0	0	11572	739	26	2	1746	2	PCDHA8	5	140222650	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	210118	140222650	40692610	43	8373											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcctcgtggtggccGtccaggaccacggccagccc	14	16	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			V -> I (in Ref. 1; AAD43717). {ECO:0000305}.	homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.711																																						ENST00000253812.6																			0				breast(1)	1						c.(1936-1938)Gtc>Atc									13	21	19					5																	140725536		2150	4266	6416	SO:0001583	missense	0							g.chr5:140725536G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1936G>A	5.37:g.140725536G>A	ENSP00000253812:p.Val646Ile					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V646I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1936G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.31	3.802551	0.70682	.	.	ENSG00000254245	ENST00000253812	T	0.61510	0.1	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.30329	U	0.009862	T	0.69566	0.3125	M	0.85462	2.755	0.30617	N	0.75885	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.458	T	0.75789	-0.3194	10	0.72032	D	0.01	.	12.0577	0.53544	0.0807:0.0:0.9193:0.0	.	646;646	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	646	ENSP00000253812:V646I	ENSP00000253812:V646I	V	+	1	0	PCDHGA3	140705720	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	5.628000	0.67791	2.566000	0.86566	0.558000	0.71614	GTC		0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		19	330	0	0	0	1	0	19	330					A	140725536	G	A	140725536	3	1	68	1	0	0	0	0	1	0	0	0	11597	1145	40	1	1938	1	PCDHGA3	5	140725536	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	502886	140725536	40189724	44	8374											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				14	1288						14	1288	---	---	---	---	T	31975224	-	T	31975223	6	5	68	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-HV-AA8X-01A-11D-A397-08		31975223	139139844	45	8375											
VPS52	6293	broad.mit.edu	37	chr6	33234430	33234430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagatgaaaaggtattcGcggcaggaattgtctaggag	13	6	2	2	rs571192587|rs184438144		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	395					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGGTATTCGCGGCAGGAAT	0.512																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1183-1185)cgC>cgT		vacuolar protein sorting 52 homolog (S. cerevisiae)							72	73	73					6																	33234430		1511	2709	4220	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33234430G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1185C>T	6.37:g.33234430G>A						VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R	p.R395R	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			12	1403	-			395					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.1185C>T	CCDS4770.2																																																																																				0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		8	248	0	0	0	1	0	8	248					A	33234430	G	A	33234430	2	1	68	1	0	0	0	0	0	0	0	1	17268	1074	38	1		1	VPS52	6	33234430	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	1259207	33234430	137880637	46	8376											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	602						7	602	---	---	---	---	-	33411203	CAC	-	33411201	7	5	68	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-HV-AA8X-01A-11D-A397-08	176771	33411201	137703866	47	8377											
UBR2	23304	broad.mit.edu	37	chr6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaagtgaattgccaGcagatttagagatggtgtaa	11	3	0	4			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372901.1_Missense_Mutation_p.A216T|UBR2_ENST00000372903.2_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	216					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A216T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAATTGCCAGCAGATTTAGA	0.313																																						ENST00000372899.1																			1	Substitution - Missense(1)	p.A216T(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(646-648)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 2							116	123	121					6																	42571440		2203	4297	6500	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42571440G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.646G>A	6.37:g.42571440G>A	ENSP00000361990:p.Ala216Thr					UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		5	904	+	Colorectal(47;0.196)		216					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.646G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928522	0.34002	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73469	-0.75;0.21;0.21	5.58	1.67	0.24075	.	0.829390	0.10744	N	0.639102	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.004;0.013	B;B	0.25506	0.007;0.061	T	0.25187	-1.0139	10	0.12430	T	0.62	-7.2156	6.1466	0.20289	0.0821:0.3568:0.4611:0.1	.	216;216	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	T	216	ENSP00000361994:A216T;ENSP00000361990:A216T;ENSP00000361992:A216T	ENSP00000361990:A216T	A	+	1	0	UBR2	42679418	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	0.427000	0.21379	0.728000	0.32382	0.650000	0.86243	GCA		0.313	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		110	258	0	0	0	1	0	110	258					A	42571440	G	A	42571440	3	1	68	1	0	0	0	0	1	0	0	0	16956	971	34	2	664	2	UBR2	6	42571440	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	9160239	42571440	128543627	48	8378											
MEP1A	4224	broad.mit.edu	37	chr6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttaccttgctttttgCccacatagcagctgtaccgg	7	12	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348																																						ENST00000230588.4																			1	Substitution - Missense(1)	p.A17V(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(49-51)gCc>gTc		meprin A, alpha (PABA peptide hydrolase)							218	199	205					6																	46761185		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761185C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.50C>T	6.37:g.46761185C>T	ENSP00000230588:p.Ala17Val						p.A17V	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	59	+			17					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.50C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	3.305	-0.142020	0.06669	.	.	ENSG00000112818	ENST00000230588	T	0.24151	1.87	5.21	-0.00269	0.14028	.	0.705821	0.14141	N	0.338738	T	0.04272	0.0118	N	0.25890	0.77	0.09310	N	0.999995	B;B	0.12013	0.004;0.005	B;B	0.10450	0.005;0.002	T	0.45673	-0.9245	10	0.11794	T	0.64	-3.8338	7.5808	0.27963	0.0:0.4834:0.0:0.5166	.	17;17	B7ZL91;Q16819	.;MEP1A_HUMAN	V	17	ENSP00000230588:A17V	ENSP00000230588:A17V	A	+	2	0	MEP1A	46869144	0.004000	0.15560	0.783000	0.31826	0.135000	0.20990	-0.290000	0.08354	-0.016000	0.14127	0.655000	0.94253	GCC		0.348	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	531	0	0	0	1	0	5	531					T	46761185	C	T	46761185	3	4	68	1	0	0	0	0	1	0	0	0	9516	739	26	2	52	2	MEP1A	6	46761185	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	4189745	46761185	124353882	49	8379											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			8	354						8	354	---	---	---	---	A	80751897	-	A	80751896	7	5	68	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	33990711	80751896	90363171	50	8380											
BEND3	57673	broad.mit.edu	37	chr6	107391144	107391144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagagctcggggaagagCcggtggaggaggaagacggc	20	7	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000369042.1	-	4	1441	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000429433.2_Silent_p.R417R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	417	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGGAAGAGCCGGTGGAGGA	0.632																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1249-1251)cgG>cgA		BEN domain containing 3							49	53	52					6																	107391144		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391144C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1251G>A	6.37:g.107391144C>T						BEND3_ENST00000369042.1_Silent_p.R417R	p.R417R	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	1900	-			417			BEN 2.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1251G>A	CCDS34507.1																																																																																				0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		4	167	0	0	0	1	0	4	167					T	107391144	C	T	107391144	2	4	68	1	0	0	0	0	0	0	0	1	1400	726	26	2		2	BEND3	6	107391144	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	26639248	107391144	63723923	51	8381											
TMEM200A	114801	broad.mit.edu	37	chr6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaggcgccggccccgggcaGatgttgtggttgttcgtggc	17	11	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000296978.3	+	3	1010	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y|TMEM200A_ENST00000392429.1_Missense_Mutation_p.D47Y	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	47						integral component of membrane (GO:0016021)				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)		GCCCCGGGCAGATGTTGTGGT	0.507																																						ENST00000392429.1																			0				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						c.(139-141)Gat>Tat		transmembrane protein 200A							123	126	125					6																	130761706		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761706G>T	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.139G>T	6.37:g.130761706G>T	ENSP00000296978:p.Asp47Tyr					TMEM200A_ENST00000296978.3_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	p.D47Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2517	+			47					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.139G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935617	0.73442	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77446	-0.2585	9	0.87932	D	0	.	19.6088	0.95594	0.0:0.0:1.0:0.0	.	47	Q86VY9	T200A_HUMAN	Y	47	.	ENSP00000296978:D47Y	D	+	1	0	TMEM200A	130803399	1.000000	0.71417	0.657000	0.29651	0.908000	0.53690	9.668000	0.98619	2.623000	0.88846	0.650000	0.86243	GAT		0.507	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		154	158	1	0	4.58859e-59	1	5.07804e-59	154	158					T	130761706	G	T	130761706	3	4	68	1	0	0	0	0	1	0	0	0	16175	942	33	3	141	3	TMEM200A	6	130761706	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	23370562	130761706	40353361	52	8382											
RBM16	22828	broad.mit.edu	37	chr6	155148314	155148314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgtctaggtttcatgCcgcctccagttcccccacct	6	16	3	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:155148314C>T	ENST00000367178.3	+	18	2656	c.2080C>T	c.(2080-2082)Ccg>Tcg	p.P694S	SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	694	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGTTTCATGCCGCCTCCAGT	0.368																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2080-2082)Ccg>Tcg		SR-related CTD-associated factor 8							130	135	133					6																	155148314		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155148314C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2080C>T	6.37:g.155148314C>T	ENSP00000356146:p.Pro694Ser					SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S	p.P694S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			18	2656	+			694			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2080C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802481	0.70682	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.53206	0.66;0.66;0.63	5.13	5.13	0.70059	.	0.452954	0.20053	U	0.100251	T	0.58495	0.2126	M	0.62723	1.935	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;D;D;P	0.80764	0.994;0.932;0.994;0.874	T	0.52313	-0.8592	10	0.30854	T	0.27	.	17.7112	0.88322	0.0:1.0:0.0:0.0	.	739;760;772;694	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	S	694;694;760	ENSP00000356146:P694S;ENSP00000413098:P694S;ENSP00000356154:P760S	ENSP00000356146:P694S	P	+	1	0	SCAF8	155190006	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.732000	0.62029	2.532000	0.85374	0.561000	0.74099	CCG		0.368	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		5	307	0	0	0	1	0	5	307					T	155148314	C	T	155148314	3	4	68	1	0	0	0	0	1	0	0	0	13168	739	26	2	2150	2	RBM16	6	155148314	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	24386608	155148314	15966753	53	8383											
HOXA5	3202	broad.mit.edu	37	chr7	27182747	27182747	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggctcgctctgcgcactCgcctgctcgctgctggcagg	13	17	1	0	rs202017218		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10202	0.0		0.0	False		,,,				2504	0.0				Colon(119;75 2200 7557 42868)	ENST00000222726.3																			2	Substitution - coding silent(2)	p.A160A(2)	lung(2)	central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(478-480)gcG>gcA		homeobox A5							57	70	65					7																	27182747		2199	4295	6494	SO:0001819	synonymous_variant	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182747C>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"Homeoboxes / ANTP class : HOXL subclass"	5106	protein-coding gene	gene with protein product		142952	"homeo box A5"	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.480G>A	7.37:g.27182747C>T						HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	p.A160A	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	540	-			160					A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	c.480G>A	CCDS5406.1																																																																																				0.692	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			184	332	0	0	0	1	0	184	332					T	27182747	C	T	27182747	2	4	68	1	0	0	0	0	0	0	0	1	7325	871	31	1		1	HOXA5	7	27182747	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		27182747	131955916	54	8384											
SLC12A9	56996	broad.mit.edu	37	chr7	100463601	100463601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggccagcggggccttgCcccctgagcggctgagccgg	17	17	0	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100463601C>T	ENST00000354161.3	+	14	2244	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	707					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGGGCCTTGCCCCCTGAGCG	0.711																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2119-2121)Ccc>Tcc		solute carrier family 12, member 9							39	51	47					7																	100463601		2186	4270	6456	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463601C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2119C>T	7.37:g.100463601C>T	ENSP00000275730:p.Pro707Ser						p.P707S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2244	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		707					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2119C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394309	0.42410	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.90504	-2.68	5.44	5.44	0.79542	.	0.153325	0.42420	D	0.000713	D	0.86569	0.5964	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.81514	-0.0898	10	0.32370	T	0.25	.	16.7553	0.85498	0.0:1.0:0.0:0.0	.	707	Q9BXP2	S12A9_HUMAN	S	707;333	ENSP00000275730:P707S	ENSP00000275730:P707S	P	+	1	0	SLC12A9	100301537	0.942000	0.31987	1.000000	0.80357	0.717000	0.41224	2.321000	0.43805	2.564000	0.86499	0.555000	0.69702	CCC		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	439	0	0	0	1	0	5	439					T	100463601	C	T	100463601	3	4	68	1	0	0	0	0	1	0	0	0	14440	739	26	2	2169	2	SLC12A9	7	100463601	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	73280854	100463601	58675062	55	8385											
TSPAN12	23554	broad.mit.edu	37	chr7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaacagcaatcatgaccGgatgaaccacaggaaagtaa	9	9	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373																																						ENST00000222747.3																			1	Substitution - Missense(1)	p.P65Q(1)	lung(1)	endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)cCg>cTg		tetraspanin 12							162	153	156					7																	120478922		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120478922G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"Tetraspanins"	21641	protein-coding gene	gene with protein product		613138	"transmembrane 4 superfamily member 12"	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.194C>T	7.37:g.120478922G>A	ENSP00000222747:p.Pro65Leu					TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			4	801	-	all_neural(327;0.117)		65					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.194C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127309	0.77549	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.99	5.99	0.97316	.	0.052782	0.85682	D	0.000000	T	0.70500	0.3231	L	0.45581	1.43	0.80722	D	1	B	0.32829	0.386	B	0.32465	0.146	T	0.65047	-0.6263	10	0.21540	T	0.41	-14.5881	20.5371	0.99232	0.0:0.0:1.0:0.0	.	65	O95859	TSN12_HUMAN	L	65	ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L	ENSP00000222747:P65L	P	-	2	0	TSPAN12	120266158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.398000	0.90195	2.857000	0.98124	0.650000	0.86243	CCG		0.373	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		6	541	0	0	0	1	0	6	541					A	120478922	G	A	120478922	3	1	68	1	0	0	0	0	1	0	0	0	16689	1116	39	1	743	1	TSPAN12	7	120478922	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	20015321	120478922	38659741	56	8386											
ASB15	142685	broad.mit.edu	37	chr7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcgctgtattttggcGtttctaataatgacgttcat	9	7	2	2	rs370081452	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V358I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTATTTTGGCGTTTCTAATAA	0.458													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21776	0.0		0.0	False		,,,				2504	0.0					ENST00000451558.1																			1	Substitution - Missense(1)	p.V358I(1)	endometrium(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)Gtt>Att		ankyrin repeat and SOCS box containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	153	138	143		1072	5.3	0.9	7		143	0,8600		0,0,4300	no	missense	ASB15	NM_080928.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	358/589	123269120	1,13005	2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269120G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1072G>A	7.37:g.123269120G>A	ENSP00000397655:p.Val358Ile					ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I	p.V358I			Q8WXK1	ASB15_HUMAN			12	1593	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1072G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.523476	0.85600	2.27E-4	0.0	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.17	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.082444	0.50627	N	0.000109	T	0.73001	0.3531	L	0.45137	1.4	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.75938	-0.3141	10	0.72032	D	0.01	.	15.8585	0.79005	0.0644:0.0:0.9356:0.0	.	358	Q8WXK1	ASB15_HUMAN	I	358;358;358;358;147;358	ENSP00000397655:V358I;ENSP00000390963:V358I;ENSP00000416433:V358I;ENSP00000438643:V358I;ENSP00000275699:V358I	ENSP00000275699:V358I	V	+	1	0	ASB15	123056356	1.000000	0.71417	0.950000	0.38849	0.882000	0.50991	7.633000	0.83260	1.644000	0.50603	-0.119000	0.15052	GTT		0.458	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			94	250	0	0	0	1	0	94	250					A	123269120	G	A	123269120	3	1	68	1	0	0	0	0	1	0	0	0	1020	1145	40	1	1098	1	ASB15	7	123269120	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	2790198	123269120	35869543	57	8387											
PRSS1	5644	broad.mit.edu	37	chr7	142458419	142458421	+	In_Frame_Del	DEL	TGA	TGA	-													actccagttgctgcccccttTgatgatgatgacaagatcgt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142458419_142458421delTGA	ENST00000311737.7	+	2	60_62	c.54_56delTGA	c.(52-57)tttgat>ttt	p.D22del	PRSS1_ENST00000486171.1_In_Frame_Del_p.D22del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	22			D -> G (in PCTT; increased rate of activation). {ECO:0000269|PubMed:10930381}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGCCCCCTTTGATGATGATGAC	0.527																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	GRCh37	CM035652	PRSS1	M		c.(52-57)ttt>tt		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458419_142458421delTGA	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.54_56delTGA	7.37:g.142458428_142458430delTGA	ENSP00000308720:p.Asp22del					PRSS1_ENST00000311737.7_In_Frame_Del_p.FD18del	p.FD18del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	71_73	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	18					A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.54_56delTGA	CCDS5872.1																																																																																				0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			148	956						148	956	---	---	---	---	-	142458421	TGA	-	142458419	7	5	68	1	0	1	0	1	0	0	0	0	12661	1809	63	0	60	0	PRSS1	7	142458419	In_Frame_Del	DEL	TGA	TCGA-HV-AA8X-01A-11D-A397-08	19189299	142458419	16680244	58	8388											
SSPO	23145	broad.mit.edu	37	chr7	149516508	149516508	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccagcagcgccgcctgCgggcataccgtccccctggg	15	17	0	0	rs376818048		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:149516508C>T	ENST00000378016.2	+	0	11911							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGCCGCCTGCGGGCATACCG	0.706																																						ENST00000378016.2																			0													SCO-spondin		C		0,3896		0,0,1948	14	19	17		11925	3.2	1	7		17	11,8233		0,11,4111	no	coding-notMod3	SSPO	NM_198455.2		0,11,6059	TT,TC,CC		0.1334,0.0,0.0906			149516508	11,12129	1948	4122	6070			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149516508C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516508C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11911	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.706	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	108	0	0	0	1	0	19	108					T	149516508	C	T	149516508	1	4	68	0	1	0	0	0	0	0	0	0	15241	759	27	1		1	SSPO	7	149516508	RNA	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	7058089	149516508	9622155	59	8389											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-													gcggagccctctgctgtggcTtttttttgagattctgctgt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134	143	140					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	680						8	680	---	---	---	---	-	37728933	T	-	37728933	7	5	68	1	0	1	0	1	0	0	0	0	12943	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08		37728933	108635089	60	8390											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	77	0	0	0	1	0	7	77					G	41790659	T	G	41790659	2	3	68	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	4061726	41790659	104573363	61	8391											
MAPK15	225689	broad.mit.edu	37	chr8	144804265	144804265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctccccggcttcctccGgaggcccggcccggccggag	14	20	0	0	rs369868387	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	493					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTCCTCCGGAGGCCCGGC	0.652													g|||	2	0.000399361	0.0	0.0	5008	,	,		11717	0.0		0.0	False		,,,				2504	0.002					ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(1477-1479)ccG>ccA		mitogen-activated protein kinase 15		G		1,3737		0,1,1868	57	65	63		1479	-0.7	0	8		63	1,8163		0,1,4081	no	coding-synonymous	MAPK15	NM_139021.2		0,2,5949	AA,AG,GG		0.0122,0.0268,0.0168		493/545	144804265	2,11900	1869	4082	5951	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144804265G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1479G>A	8.37:g.144804265G>A							p.P493P	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		14	1598	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		493					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.1479G>A	CCDS6409.2																																																																																				0.652	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		141	298	0	0	0	1	0	141	298					A	144804265	G	A	144804265	2	1	68	1	0	0	0	0	0	0	0	1	9318	1103	39	1		1	MAPK15	8	144804265	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	103013606	144804265	1559757	62	8392											
C9orf93	203238	broad.mit.edu	37	chr9	15666164	15666164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtcgtccggtagttaCggattcgagaccttgaagga	13	8	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:15666164C>T	ENST00000380701.3	+	9	1247	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	307	Glu-rich.																CCGGTAGTTACGGATTCGAGA	0.368																																						ENST00000380701.3																			0											c.(919-921)Cgg>Tgg		coiled-coil domain containing 171							72	72	72					9																	15666164		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15666164C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.919C>T	9.37:g.15666164C>T	ENSP00000370077:p.Arg307Trp					CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			9	1247	+			307			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.919C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236589	0.58886	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.21361	2.01;2.01	5.04	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;P;P	0.59288	0.855;0.799;0.855	T	0.09640	-1.0665	10	0.87932	D	0	-5.486	14.6238	0.68605	0.4658:0.5342:0.0:0.0	.	307;307;307	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	W	307	ENSP00000297641:R307W;ENSP00000370077:R307W	ENSP00000297641:R307W	R	+	1	2	C9orf93	15656164	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	0.480000	0.22244	0.594000	0.29761	-0.230000	0.12252	CGG		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	222	0	0	0	1	0	6	222					T	15666164	C	T	15666164	3	4	68	1	0	0	0	0	1	0	0	0	2513	527	19	1	949	1	C9orf93	9	15666164	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		15666164	125547267	63	8393											
GRHPR	9380	broad.mit.edu	37	chr9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G													gagctagagcgaggtgtggcINSgggggcccacggcctgctct					rs369721488|rs150805048		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1	0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		7	257						7	257	---	---	---	---	G	37424908	-	G	37424907	7	5	68	1	0	1	1	0	0	0	0	0	6796	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	21758743	37424907	103788524	64	8394											
HABP4	22927	broad.mit.edu	37	chr9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C													attcccatgttttccggaaaINScccgccaatgacatcacatc					rs372277294		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1045-1047)cccfs	p.P349fs	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.P244fs	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.53																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1042-1047)aaccgcfs		hyaluronan binding protein 4																																				SO:0001589	frameshift_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250415_99250416insC	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1047dupC	9.37:g.99250418_99250418dupC	ENSP00000364398:p.Pro349fs					HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs	p.R349fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			7	1119_1120	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	349						Frame_Shift_Ins	INS	ENST00000375249.4	37	c.1044_1045insC	CCDS6719.1																																																																																				0.53	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		9	546						9	546	---	---	---	---	C	99250416	-	C	99250415	7	5	68	1	0	1	1	0	0	0	0	0	6969	40	2	0	1070	0	HABP4	9	99250415	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	61825508	99250415	41963016	65	8395											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95	106	102					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			9	695						9	695	---	---	---	---	-	135941982	G	-	135941982	7	5	68	1	0	1	0	1	0	0	0	0	3218	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-HV-AA8X-01A-11D-A397-08	36691567	135941982	5271449	66	8396											
RBM17	84991	broad.mit.edu	37	chr10	6157416	6157416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttgtttgcctttcagCggttgttgacttgaatggga	12	6	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Splice_Site_p.A368V	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.e12-1		RNA binding motif protein 17							173	159	164					10																	6157416		2203	4300	6503	SO:0001630	splice_region_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157416C>T	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1103-1C>T	10.37:g.6157416C>T						RBM17_ENST00000379888.4_Splice_Site_p.A368_splice|RBM17_ENST00000476706.1_3'UTR	p.A368_splice	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			12	1747	+			368			RRM.		Q96GY6	Splice_Site	SNP	ENST00000446108.1	37	c.1102_splice	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653982	0.88056	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.93	4.93	0.64822	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91544	0.5252	8	.	.	.	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	368	Q96I25	SPF45_HUMAN	V	368	.	.	A	+	2	0	RBM17	6197422	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.091000	0.76923	2.424000	0.82194	0.655000	0.94253	GCG		0.353	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905	Missense_Mutation	11	289	0	0	0	1	0	11	289					T	6157416	C	T	6157416	5	4	68	1	0	0	0	0	0	0	1	0	13169	782	27	1	1145	1	RBM17	10	6157416	Splice_Site	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		6157416	129377331	67	8397											
MYO3A	53904	broad.mit.edu	37	chr10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcccctcttagatatgtttCtgcaaaagccaatgggttta	9	9	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	780	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGATATGTTTCTGCAAAAGCC	0.383																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2338-2340)Ctg>Atg		myosin IIIA							140	137	138					10																	26432452		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432452C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2338C>A	10.37:g.26432452C>A	ENSP00000265944:p.Leu780Met					MYO3A_ENST00000543632.1_Intron	p.L780M	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			21	2504	+			780			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2338C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159247	0.78226	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	6.02	6.02	0.97574	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91867	0.5504	10	0.72032	D	0.01	.	11.775	0.51981	0.0:0.8651:0.0:0.1349	.	780	Q8NEV4	MYO3A_HUMAN	M	780	ENSP00000265944:L780M	ENSP00000265944:L780M	L	+	1	2	MYO3A	26472458	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.744000	0.47450	2.857000	0.98124	0.650000	0.86243	CTG		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		88	238	1	0	1.4597e-55	1	1.60471e-55	88	238					A	26432452	C	A	26432452	3	1	68	1	0	0	0	0	1	0	0	0	10117	912	32	3	2412	3	MYO3A	10	26432452	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	20275036	26432452	109102295	68	8398											
LZTS2	84445	broad.mit.edu	37	chr10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgcgagaggactgtgCggcccaggcacagcgggcac	17	14	0	1	rs368966948		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTGTGCGGCCCAGGCA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1129-1131)gCg>gTg		leucine zipper, putative tumor suppressor 2		C	VAL/ALA	1,4395		0,1,2197	22	27	25		1130	1.6	0	10		25	0,8564		0,0,4282	no	missense	LZTS2	NM_032429.2	64	0,1,6479	TT,TC,CC		0.0,0.0227,0.0077	benign	377/670	102765276	1,12959	2198	4282	6480	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102765276C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1130C>T	10.37:g.102765276C>T	ENSP00000359240:p.Ala377Val					LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V	p.A377V			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	4193	+			377						Missense_Mutation	SNP	ENST00000370220.1	37	c.1130C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941222	0.34283	2.27E-4	0.0	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.48836	0.8;0.8	5.09	1.64	0.23874	.	0.379079	0.28284	N	0.015912	T	0.33644	0.0870	L	0.31420	0.93	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.29119	-1.0022	10	0.48119	T	0.1	4.0816	10.9855	0.47520	0.0:0.7431:0.0:0.2569	.	377	Q9BRK4	LZTS2_HUMAN	V	377	ENSP00000359243:A377V;ENSP00000359240:A377V	ENSP00000314437:A377V	A	+	2	0	LZTS2	102755266	0.000000	0.05858	0.000000	0.03702	0.364000	0.29643	0.846000	0.27682	0.519000	0.28406	0.561000	0.74099	GCG		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		5	223	0	0	0	1	0	5	223					T	102765276	C	T	102765276	3	4	68	1	0	0	0	0	1	0	0	0	9178	768	27	1	1140	1	LZTS2	10	102765276	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	76332824	102765276	32769471	69	8399											
PNLIP	5406	broad.mit.edu	37	chr10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A													acagatgggtcactatgctgINSatagatatcctgggaaaaca							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)gatfs	p.D329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	329					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(985-987)tagfs		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)																																			SO:0001589	frameshift_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318720_118318721insA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.986dupA	10.37:g.118318721_118318721dupA	ENSP00000358223:p.Asp329fs						p.*329fs	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	1013_1014	+			329					Q5VSQ2	Frame_Shift_Ins	INS	ENST00000369221.2	37	c.985_986insA	CCDS7594.1																																																																																				0.401	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		124	270						124	270	---	---	---	---	A	118318721	-	A	118318720	7	5	68	1	0	1	1	0	0	0	0	0	12191	1290	45	0	1019	0	PNLIP	10	118318720	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	15553444	118318720	17216027	70	8400											
INPP5F	22876	broad.mit.edu	37	chr10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG													cagaggcagagcactggggaINSgagggacggtcggcccctct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-588)gagaggfs	p.-196fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs|INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCACTGGGGAGAGGGACGGTC	0.5																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(583-585)gagfs		inositol polyphosphate-5-phosphatase F																																				SO:0001589	frameshift_variant	22876						phosphoric ester hydrolase activity	g.chr10:121551520_121551521insGAGG	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.585_588dupGAGG	10.37:g.121551521_121551524dupGAGG	ENSP00000354519:p.Arg196fs					INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.E99fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.E195fs	p.E195fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	750_751	+		Lung NSC(174;0.109)|all_lung(145;0.142)	195			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	ENST00000361976.2	37	c.584_585insGAGG	CCDS7616.1																																																																																				0.5	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		129	444						129	444	---	---	---	---	GAGG	121551521	-	GAGG	121551520	7	5	68	1	0	1	1	0	0	0	0	0	7788	304	11	0	602	0	INPP5F	10	121551520	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	3232800	121551520	13983227	71	8401											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	822	0	0	0	1	0	6	822					A	1629156	T	A	1629156	3	1	68	1	0	0	0	0	1	0	0	0	8593	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08		1629156	133377360	72	8402											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642976	1642976	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagccccccttggaAcccccacaggagccacagcc	9	20	0	0	rs569029116	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1642976A>G	ENST00000399682.1	-	1	392	c.348T>C	c.(346-348)ggT>ggC	p.G116G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662													a|||	5	0.000998403	0.0023	0.0	5008	,	,		10207	0.002		0.0	False		,,,				2504	0.0					ENST00000399682.1																			3	Substitution - coding silent(3)	p.G116G(3)	endometrium(2)|prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(346-348)ggT>ggC		keratin associated protein 5-4							10	20	17					11																	1642976		677	1565	2242	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642976A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.348T>C	11.37:g.1642976A>G							p.G116G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	392	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	116			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.348T>C																																																																																					0.662	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		13	277	0	0	0	1	0	13	277					G	1642976	A	G	1642976	2	3	68	1	0	0	0	0	0	0	0	1	8594	30	2	4		4	KRTAP5-4	11	1642976	Silent	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	13820	1642976	133363540	73	8403											
GALNTL4	374378	broad.mit.edu	37	chr11	11398786	11398786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggggggatttaggtagCggcaccacagctcccagtca	13	12	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:11398786C>T	ENST00000227756.4	-	5	1331	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	307					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATTTAGGTAGCGGCACCACAG	0.532																																						ENST00000227756.4																			0											c.(919-921)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							71	69	70					11																	11398786		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11398786C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.920G>A	11.37:g.11398786C>T	ENSP00000227756:p.Arg307His						p.R307H	NM_198516.2	NP_940918.2					5	1331	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.920G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054867	0.75960	.	.	ENSG00000110328	ENST00000227756	T	0.59364	0.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.45744	1.44	0.48236	D	0.999614	D	0.89917	1.0	D	0.85130	0.997	T	0.68424	-0.5412	10	0.49607	T	0.09	.	12.6283	0.56642	0.1657:0.8343:0.0:0.0	.	307	Q6P9A2	GLTL4_HUMAN	H	307	ENSP00000227756:R307H	ENSP00000227756:R307H	R	-	2	0	GALNTL4	11355362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.708000	0.61859	2.473000	0.83533	0.655000	0.94253	CGC		0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		94	239	0	0	0	1	0	94	239					T	11398786	C	T	11398786	3	4	68	1	0	0	0	0	1	0	0	0	6251	768	27	1	931	1	GALNTL4	11	11398786	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	9755810	11398786	123607730	74	8404											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	5	23	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33	36	35					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	190	0	0	0	1	0	4	190					C	68216515	T	C	68216515	3	2	68	1	0	0	0	0	1	0	0	0	8998	1667	58	4	4915	4	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	56817729	68216515	66790001	75	8405											
GDPD4	220032	broad.mit.edu	37	chr11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctttccaaacatgccaCgtagaaggccacaggccaga	8	13	1	2	rs367777591		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000376217.2	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000315938.4_Missense_Mutation_p.V127M|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	127					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAACATGCCACGTAGAAGGCC	0.483																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(379-381)Gtg>Atg		glycerophosphodiester phosphodiesterase domain containing 4		C	MET/VAL	0,4400		0,0,2200	94	83	87		379	-2	0	11		87	1,8583	1.2+/-3.3	0,1,4291	no	missense	GDPD4	NM_182833.1	21	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	127/521	76982196	1,12983	2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76982196C>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.379G>A	11.37:g.76982196C>T	ENSP00000365390:p.Val127Met					GDPD4_ENST00000376217.2_Missense_Mutation_p.V127M	p.V127M	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			6	629	-			127					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228315	0.06022	0.0	1.16E-4	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16073	2.37;2.43	4.55	-2.0	0.07433	.	0.670270	0.15204	N	0.274867	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	1	P	0.38167	0.621	B	0.26969	0.075	T	0.21109	-1.0255	10	0.39692	T	0.17	-0.5584	5.3776	0.16174	0.5872:0.1974:0.0:0.2154	.	127	Q6W3E5-2	.	M	127	ENSP00000365390:V127M;ENSP00000320815:V127M	ENSP00000320815:V127M	V	-	1	0	GDPD4	76659844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.182000	0.09726	-0.554000	0.06150	-0.500000	0.04577	GTG		0.483	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		43	112	0	0	0	1	0	43	112					T	76982196	C	T	76982196	3	4	68	1	0	0	0	0	1	0	0	0	6355	536	19	1	1227	1	GDPD4	11	76982196	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	8765681	76982196	58024320	76	8406											
ROBO3	64221	broad.mit.edu	37	chr11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaagcggtccaggccGtgcccctggcagcccagcgg	16	14	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1308					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		GGTCCAGGCCGTGCCCCTGGC	0.692																																						ENST00000397801.1																			0				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						c.(3922-3924)Gtg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							12	17	15					11																	124749808		2027	4174	6201	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124749808G>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.3922G>A	11.37:g.124749808G>A	ENSP00000380903:p.Val1308Met					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M	p.V1308M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	26	4114	+	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)	1308						Missense_Mutation	SNP	ENST00000397801.1	37	c.3922G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279841	0.10458	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.64438	-0.1;-0.09;0.88	5.28	-0.16	0.13375	.	1.155830	0.06713	N	0.773491	T	0.45276	0.1334	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23119	-1.0197	10	0.29301	T	0.29	.	7.3071	0.26453	0.2549:0.0:0.6225:0.1226	.	1308	Q96MS0	ROBO3_HUMAN	M	1308;1286;71	ENSP00000380903:V1308M;ENSP00000441797:V1286M;ENSP00000438799:V71M	ENSP00000380903:V1308M	V	+	1	0	ROBO3	124255018	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	0.938000	0.28965	-0.348000	0.08286	-1.004000	0.02495	GTG		0.692	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		16	39	0	0	0	1	0	16	39					A	124749808	G	A	124749808	3	1	68	1	0	0	0	0	1	0	0	0	13565	1145	40	1	4024	1	ROBO3	11	124749808	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	47767612	124749808	10256708	77	8407											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		22	142	0	0	0	1	0	22	142					C	3649787	T	C	3649787	3	2	68	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08		3649787	130202108	78	8408											
NOP2	4839	broad.mit.edu	37	chr12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagccggttcaggtattcaGaacgagaccgcccttcctcc	10	14	2	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000322166.5	-	8	912	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(778-780)tCt>tTt		NOP2 nucleolar protein							75	76	76					12																	6672578		1940	4143	6083	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672578G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.791C>T	12.37:g.6672578G>A	ENSP00000313272:p.Ser264Phe		OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F	p.S260F			P46087	NOP2_HUMAN			8	1267	-			264					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.779C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005824	0.54254	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.48201	2.4;2.42;2.43;2.4;2.4;2.4;0.82	5.19	5.19	0.71726	.	1.209700	0.05601	N	0.576322	T	0.66247	0.2770	M	0.84082	2.675	0.20563	N	0.999886	P	0.41131	0.739	P	0.49276	0.605	T	0.56463	-0.7975	10	0.66056	D	0.02	-1.1433	11.9695	0.53055	0.0:0.0:0.7038:0.2962	.	260	P46087-2	.	F	264;297;260;260;264;260;140	ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F	ENSP00000313272:S264F	S	-	2	0	NOP2	6542839	0.016000	0.18221	0.035000	0.18076	0.993000	0.82548	1.893000	0.39758	2.436000	0.82500	0.561000	0.74099	TCT		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		24	33	0	0	0	1	0	24	33					A	6672578	G	A	6672578	3	1	68	1	0	0	0	0	1	0	0	0	10580	942	33	2	1683	2	NOP2	12	6672578	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	3022791	6672578	127179317	79	8409											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		50	156	0	0	0	1	0	50	156					T	25398284	C	T	25398284	3	4	68	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	18725706	25398284	108453611	80	8410											
TUBA1B	10376	broad.mit.edu	37	chr12	49523505	49523505	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggagatgcactcacGctgcgggaaggaaaaaagat	15	6	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	2					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGCACTCACGCTGCGGGAAG	0.468																																						ENST00000336023.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.e2-1		tubulin, alpha 1b							51	49	49					12																	49523505		2203	4300	6503	SO:0001630	splice_region_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523505G>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.4-1C>T	12.37:g.49523505G>A						RP11-386G11.10_ENST00000547387.1_RNA	p.R2_splice	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN			2	98	-			2					P04687|P05209|Q27I68|Q8WU19	Splice_Site	SNP	ENST00000336023.5	37	c.3_splice	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	16.25	3.071607	0.55646	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.71698	-0.59;-0.59	4.85	4.85	0.62838	Tubulin/FtsZ, GTPase domain (2);	0.000000	0.47455	U	0.000228	D	0.86543	0.5958	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89528	0.3783	10	0.87932	D	0	.	16.7309	0.85434	0.0:0.0:1.0:0.0	.	2	P68363	TBA1B_HUMAN	C	2	ENSP00000336799:R2C;ENSP00000449325:R2C	ENSP00000336799:R2C	R	-	1	0	TUBA1B	47809772	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.776000	0.99001	2.235000	0.73313	0.655000	0.94253	CGT		0.468	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	Missense_Mutation	65	86	0	0	0	1	0	65	86					A	49523505	G	A	49523505	5	1	68	1	0	0	0	0	0	0	1	0	16798	1101	38	1	1363	1	TUBA1B	12	49523505	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	24125221	49523505	84328390	81	8411											
OSBPL8	114882	broad.mit.edu	37	chr12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcatttctaatacctgttCagcaatataaaaagttttgc	5	7	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	510					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATACCTGTTCAGCAATATAA	0.318																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1528-1530)Gaa>Taa		oxysterol binding protein-like 8							44	42	43					12																	76779953		2203	4298	6501	SO:0001587	stop_gained	114882				lipid transport		lipid binding	g.chr12:76779953C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1528G>T	12.37:g.76779953C>A	ENSP00000261183:p.Glu510*					OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*	p.E510*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			14	2007	-			510					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Nonsense_Mutation	SNP	ENST00000261183.3	37	c.1528G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	43	9.950176	0.99303	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	.	.	.	5.65	5.65	0.86999	.	0.094278	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0275	19.724	0.96154	0.0:1.0:0.0:0.0	.	.	.	.	X	468;510;495;468;510;510;485	.	ENSP00000261183:E510X	E	-	1	0	OSBPL8	75304084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.092000	0.71414	2.654000	0.90174	0.557000	0.71058	GAA		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		59	84	1	0	8.4772e-36	1	9.258e-36	59	84					A	76779953	C	A	76779953	4	1	68	1	0	0	0	0	0	1	0	0	11325	835	29	3	1185	3	OSBPL8	12	76779953	Nonsense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	27256448	76779953	57071942	82	8412											
KSR2	283455	broad.mit.edu	37	chr12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtaggggagaaggcgGcgtggcactaggagggaggg	24	4	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000339824.5	-	10	2351	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P513S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGCGGCGTGGCACTA	0.647																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1537-1539)Ccg>Tcg		kinase suppressor of ras 2							69	80	77					12																	117977587		2122	4211	6333	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977587G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1624C>T	12.37:g.117977587G>A	ENSP00000339952:p.Pro542Ser					KSR2_ENST00000339824.5_Missense_Mutation_p.P542S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S|KSR2_ENST00000545002.1_5'UTR	p.P513S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1591	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		542			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260144	0.80246	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86297	-1.27;-1.26;-2.1	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.29908	0.895	0.80722	D	1	D	0.59357	0.985	P	0.53102	0.718	T	0.80214	-0.1475	10	0.02654	T	1	.	18.5691	0.91128	0.0:0.0:1.0:0.0	.	542	Q6VAB6	KSR2_HUMAN	S	513;542;239;214	ENSP00000389715:P513S;ENSP00000339952:P542S;ENSP00000305466:P239S	ENSP00000305466:P239S	P	-	1	0	KSR2	116461970	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.569000	0.98170	2.601000	0.87937	0.655000	0.94253	CCG		0.647	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		61	84	0	0	0	1	0	61	84					A	117977587	G	A	117977587	3	1	68	1	0	0	0	0	1	0	0	0	8613	1203	42	2	1272	2	KSR2	12	117977587	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	41197634	117977587	15874308	83	8413											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	295						7	295	---	---	---	---	-	20426145	CAT	-	20426143	7	5	68	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-HV-AA8X-01A-11D-A397-08		20426143	94743735	84	8414											
OR4K17	390436	broad.mit.edu	37	chr14	20586444	20586444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatctacatttggcccttCggcaaccactctgtagataa	6	11	2	1	rs374355972		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCTTCGGCAACCACT	0.418																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(877-879)ttC>ttT		olfactory receptor, family 4, subfamily K, member 17		C		0,4406		0,0,2203	95	87	90		879	-1.4	0.1	14		90	1,8599		0,1,4299	no	coding-synonymous	OR4K17	NM_001004715.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		293/344	20586444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586444C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.879C>T	14.37:g.20586444C>T							p.F293F	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	879	+	all_cancers(95;0.00108)		265					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.879C>T	CCDS32030.1																																																																																				0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			72	104	0	0	0	1	0	72	104					T	20586444	C	T	20586444	2	4	68	1	0	0	0	0	0	0	0	1	11113	883	31	1		1	OR4K17	14	20586444	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		20586444	86763096	85	8415											
NPAS3	64067	broad.mit.edu	37	chr14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggacgttaacagccccGgctttggcctcgaccccaag	11	15	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000356141.4	+	12	2578	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S	NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000346562.2_Missense_Mutation_p.G828S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	860					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACAGCCCCGGCTTTGGCCT	0.652																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2482-2484)Ggc>Agc		neuronal PAS domain protein 3							43	29	34					14																	34270091		2202	4300	6502	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270091G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2578G>A	14.37:g.34270091G>A	ENSP00000348460:p.Gly860Ser					NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000356141.4_Missense_Mutation_p.G860S	p.G828S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2556	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		860					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2482G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751605	0.31046	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11169	3.07;2.9;2.96;2.96;2.93;2.8	5.02	5.02	0.67125	.	0.054609	0.64402	D	0.000001	T	0.08133	0.0203	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.17667	0.023;0.013;0.023;0.023	B;B;B;B	0.15052	0.012;0.005;0.012;0.012	T	0.19192	-1.0313	10	0.37606	T	0.19	.	9.6998	0.40180	0.1303:0.0:0.8697:0.0	.	830;860;828;847	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	834;865;828;830;860;847	ENSP00000448373:G834S;ENSP00000450392:G865S;ENSP00000319610:G828S;ENSP00000448916:G830S;ENSP00000348460:G860S;ENSP00000350446:G847S	ENSP00000319610:G828S	G	+	1	0	NPAS3	33339842	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.058000	0.57463	2.310000	0.77875	0.484000	0.47621	GGC		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			13	24	0	0	0	1	0	13	24					A	34270091	G	A	34270091	3	1	68	1	0	0	0	0	1	0	0	0	10606	1116	39	1	2679	1	NPAS3	14	34270091	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	13683647	34270091	73079449	86	8416											
MGAT2	4247	broad.mit.edu	37	chr14	50088597	50088597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacctgccgaagaatgCcgctttgaaattggggtgca	13	9	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:50088597C>T	ENST00000305386.2	+	1	1109	c.611C>T	c.(610-612)gCc>gTc	p.A204V	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	204					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCGAAGAATGCCGCTTTGAAA	0.502																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(610-612)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							110	108	109					14																	50088597		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088597C>T	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.611C>T	14.37:g.50088597C>T	ENSP00000307423:p.Ala204Val					RP11-649E7.5_ENST00000555043.1_RNA	p.A204V	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1109	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		204					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.611C>T	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111448	0.37242	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	6.0	4.05	0.47172	.	0.297229	0.35772	N	0.002990	D	0.84151	0.5409	L	0.36672	1.1	0.32186	N	0.57978	B	0.20164	0.042	B	0.28305	0.088	T	0.82491	-0.0431	10	0.30078	T	0.28	-7.4052	13.5965	0.61994	0.3978:0.6022:0.0:0.0	.	204	Q10469	MGAT2_HUMAN	V	204;210	ENSP00000307423:A204V	ENSP00000307423:A204V	A	+	2	0	MGAT2	49158347	0.998000	0.40836	0.994000	0.49952	0.897000	0.52465	3.624000	0.54231	1.520000	0.48965	0.555000	0.69702	GCC		0.502	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		6	461	0	0	0	1	0	6	461					T	50088597	C	T	50088597	3	4	68	1	0	0	0	0	1	0	0	0	9584	739	26	2	613	2	MGAT2	14	50088597	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	15818506	50088597	57260943	87	8417											
GPHN	10243	broad.mit.edu	37	chr14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatccattttggcaggGtttttatgaaaccagggtat	10	7	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000315266.5	+	18	2916	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000478722.1_Missense_Mutation_p.V632F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	599	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTTTGGCAGGGTTTTTATGAA	0.333			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1894-1896)Gtt>Ttt		gephyrin							163	164	163					14																	67626189		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67626189G>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1795G>T	14.37:g.67626189G>T	ENSP00000312771:p.Val599Phe					GPHN_ENST00000543237.1_Missense_Mutation_p.V645F|GPHN_ENST00000315266.5_Missense_Mutation_p.V599F|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000544752.2_3'UTR	p.V632F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	19	3015	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	599			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1894G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845302	0.91197	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.66	5.66	0.87406	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.98005	4.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	D	0.95232	0.8343	10	0.87932	D	0	-9.3676	18.5075	0.90902	0.0:0.0:1.0:0.0	.	568;645;599;632	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	599;632;645;568;124	ENSP00000312771:V599F;ENSP00000417901:V632F;ENSP00000438404:V645F;ENSP00000303019:V568F;ENSP00000452009:V124F	ENSP00000303019:V568F	V	+	1	0	GPHN	66695942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.669000	0.90835	0.591000	0.81541	GTT		0.333	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		5	464	1	0	0.000602214	1	0.000617084	5	464					T	67626189	G	T	67626189	3	4	68	1	0	0	0	0	1	0	0	0	6639	1261	44	3	1968	3	GPHN	14	67626189	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	17537592	67626189	39723351	88	8418											
C15orf41	84529	broad.mit.edu	37	chr15	36989551	36989551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatgagcatgaggtcctGctgagagacttgcttctaga	13	8	2	5			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000567389.1_Silent_p.L70L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	168										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATGAGGTCCTGCTGAGAGACT	0.423																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(502-504)ctG>ctA		chromosome 15 open reading frame 41							189	189	189					15																	36989551		1918	4141	6059	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36989551G>A	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.504G>A	15.37:g.36989551G>A						C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR	p.L168L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	8	754	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	168					B2RD87	Silent	SNP	ENST00000566621.1	37	c.504G>A	CCDS45215.1																																																																																				0.423	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		19	402	0	0	0	1	0	19	402					A	36989551	G	A	36989551	2	1	68	1	0	0	0	0	0	0	0	1	1800	1306	46	2		2	C15orf41	15	36989551	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		36989551	65541841	89	8419											
RPAP1	26015	broad.mit.edu	37	chr15	41813192	41813192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagactggctcgggctggCgagcaatgagtcaggtagca	16	9	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1064	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGGCTGGCGAGCAATGAG	0.662																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3190-3192)tcG>tcA		RNA polymerase II associated protein 1							50	47	48					15																	41813192		2202	4298	6500	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813192C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3192G>A	15.37:g.41813192C>T						RPAP1_ENST00000561603.1_Intron	p.S1064S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3308	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1064			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.3192G>A	CCDS10079.1																																																																																				0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		60	177	0	0	0	1	0	60	177					T	41813192	C	T	41813192	2	4	68	1	0	0	0	0	0	0	0	1	13591	755	27	1		1	RPAP1	15	41813192	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	4823641	41813192	60718200	90	8420											
ADAL	161823	broad.mit.edu	37	chr15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A													ctttctttagattccaaaccINSaaaaaaaagaaacacaaata							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:43641114_43641115insA	ENST00000562188.1	+	8	659_660	c.643_644insA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000389651.4_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000422466.2_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.Q188fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)aaafs		adenosine deaminase-like																																				SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114_43641115insA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.651dupA	15.37:g.43641122_43641122dupA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs	p.K215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1217_1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Ins	INS	ENST00000562188.1	37	c.643_644insA																																																																																					0.455	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		8	215						8	215	---	---	---	---	A	43641115	-	A	43641114	7	5	68	1	0	1	1	0	0	0	0	0	233	595	21	0	673	0	ADAL	15	43641114	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	1827922	43641114	58890278	91	8421											
ACAN	176	broad.mit.edu	37	chr15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaggtgatgcatggcatcGaggacagcgaggccaccctg	16	11	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000561243.1	+	2	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000439576.2_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K			P16112	PGCA_HUMAN	aggrecan	140	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATGGCATCGAGGACAGCGA	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(418-420)Gag>Aag		aggrecan							87	96	93					15																	89382241		2120	4236	6356	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382241G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.418G>A	15.37:g.89382241G>A	ENSP00000453342:p.Glu140Lys					ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000561243.1_Missense_Mutation_p.E140K	p.E140K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	792	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		140					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.418G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980547	0.92982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02656	4.21;4.21	5.6	5.6	0.85130	.	0.000000	0.33005	N	0.005399	T	0.20820	0.0501	M	0.88570	2.965	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.931;0.949;0.995	T	0.00379	-1.1777	10	0.72032	D	0.01	-10.703	18.9733	0.92724	0.0:0.0:1.0:0.0	.	140;140;140	E7ENV9;E7EX88;Q6PID9	.;.;.	K	140	ENSP00000387356:E140K;ENSP00000341615:E140K	ENSP00000268134:E140K	E	+	1	0	ACAN	87183245	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	9.715000	0.98748	2.806000	0.96561	0.655000	0.94253	GAG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		145	282	0	0	0	1	0	145	282					A	89382241	G	A	89382241	3	1	68	1	0	0	0	0	1	0	0	0	117	1059	37	1	424	1	ACAN	15	89382241	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	45741127	89382241	13149151	92	8422											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007522	93007522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctcccaggccagcccGcataccatgcccttggagtt	8	17	0	0	rs377119605		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|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)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGGCCAGCCCGCATACCATGC	0.572																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1033-1035)ccG>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							92	85	88					15																	93007522		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007522G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1035G>A	15.37:g.93007522G>A						ST8SIA2_ENST00000539113.1_Silent_p.P324P	p.P345P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1272	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		345					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1035G>A	CCDS10372.1																																																																																				0.572	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		22	384	0	0	0	1	0	22	384					A	93007522	G	A	93007522	2	1	68	1	0	0	0	0	0	0	0	1	15284	1074	38	1		1	ST8SIA2	15	93007522	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	3625281	93007522	9523870	93	8423											
SLC5A11	115584	broad.mit.edu	37	chr16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctgtgctgatgttgGcctggatcttcctacccatc	9	11	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGATGTTGGCCTGGATCTT	0.517																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(337-339)Gcc>Acc		solute carrier family 5 (sodium/inositol cotransporter), member 11							327	295	306					16																	24883505		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24883505G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.337G>A	16.37:g.24883505G>A	ENSP00000289932:p.Ala113Thr					SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T	p.A113T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	5	959	+			113						Missense_Mutation	SNP	ENST00000347898.3	37	c.337G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.226797	0.79576	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.25;-2.3	4.89	-1.42	0.08913	.	0.240762	0.41001	D	0.000971	D	0.93396	0.7894	M	0.91140	3.18	0.37318	D	0.909431	P;P;B;D	0.64830	0.783;0.877;0.444;0.994	P;P;B;D	0.69479	0.542;0.628;0.36;0.964	D	0.93660	0.6981	10	0.87932	D	0	.	13.9133	0.63881	0.0:0.0:0.3469:0.6531	.	78;113;113;49	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	113;49;113;78;49	ENSP00000289932:A113T;ENSP00000389606:A49T;ENSP00000416782:A113T;ENSP00000441384:A78T;ENSP00000441018:A49T	ENSP00000289932:A113T	A	+	1	0	SLC5A11	24791006	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	0.404000	0.20999	-0.547000	0.06207	0.443000	0.29094	GCC		0.517	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		9	166	0	0	0	1	0	9	166					A	24883505	G	A	24883505	3	1	68	1	0	0	0	0	1	0	0	0	14713	1203	42	2	351	2	SLC5A11	16	24883505	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		24883505	65471248	94	8424											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	244						7	244	---	---	---	---	-	30982811	TCC	-	30982809	7	5	68	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-HV-AA8X-01A-11D-A397-08	6099304	30982809	59371944	95	8425											
TPPP3	51673	broad.mit.edu	37	chr16	67424140	67424140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcacgtagccactgtcGtccaggatgtcctgccgtcc	11	16	1	0	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000393957.2_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000562206.1_Silent_p.D156D			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	156					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGCCACTGTCGTCCAGGATGT	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19622	0.0		0.0	False		,,,				2504	0.0					ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(466-468)gaC>gaT		tubulin polymerization-promoting protein family member 3			,	4,4392	8.1+/-20.4	0,4,2194	124	97	106		468,468	0.5	1	16	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,5,6493	AA,AG,GG		0.0116,0.091,0.0385	,	156/177,156/177	67424140	5,12991	2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424140G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.468C>T	16.37:g.67424140G>A						TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D	p.D156D			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1309	-		Ovarian(137;0.0563)	156					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.468C>T	CCDS10835.1																																																																																				0.627	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		90	223	0	0	0	1	0	90	223					A	67424140	G	A	67424140	2	1	68	1	0	0	0	0	0	0	0	1	16468	1136	40	1		1	TPPP3	16	67424140	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	36441331	67424140	22930613	96	8426											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		8	1233						8	1233	---	---	---	---	-	68718504	A	-	68718504	7	5	68	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	1294364	68718504	21636249	97	8427											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	198						7	198	---	---	---	---	-	69726422	CAG	-	69726420	7	5	68	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-HV-AA8X-01A-11D-A397-08	1007916	69726420	20628333	98	8428											
TAF1C	9013	broad.mit.edu	37	chr16	84213941	84213942	+	Frame_Shift_Del	DEL	AG	AG	-													aaggcgctcgtccactaggtAgagagagaactggggcccga							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:84213941_84213942delAG	ENST00000567759.1	-	12	1577_1578	c.1395_1396delCT	c.(1393-1398)ctctacfs	p.Y466fs	TAF1C_ENST00000341690.6_Frame_Shift_Del_p.Y373fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.Y373fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.Y466fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.Y440fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.Y134fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	466					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCACTAGGTAGAGAGAGAACT	0.668																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1393-1398)ctacfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa																																				SO:0001589	frameshift_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213941_84213942delAG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1395_1396delCT	16.37:g.84213947_84213948delAG	ENSP00000455265:p.Tyr466fs					TAF1C_ENST00000378541.4_Frame_Shift_Del_p.LY465fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.LY439fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.LY133fs	p.LY465fs	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			12	1577_1578	-			465					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	ENST00000567759.1	37	c.1395_1396delCT	CCDS32496.1																																																																																				0.668	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		2	4						2	4	---	---	---	---	-	84213942	AG	-	84213941	7	5	68	1	0	1	0	1	0	0	0	0	15573	420	15	0	1225	0	TAF1C	16	84213941	Frame_Shift_Del	DEL	AG	TCGA-HV-AA8X-01A-11D-A397-08	14487521	84213941	6140812	99	8429											
C16orf74	404550	broad.mit.edu	37	chr16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggggcgtgatgatgatgtCgggcacgtccaggtgcttgt	19	7	0	3	rs377716191		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000284245.4	-	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662																																						ENST00000602583.1																			0											c.(73-75)Gac>Aac		chromosome 16 open reading frame 74							17	22	20					16																	85743833		2133	4236	6369	SO:0001583	missense	404550							g.chr16:85743833C>T	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.109G>A	16.37:g.85743833C>T	ENSP00000284245:p.Asp37Asn					C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_Missense_Mutation_p.D37N|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602675.1_5'UTR	p.D25N			Q96GX8	CP074_HUMAN			1	623	-			37						Missense_Mutation	SNP	ENST00000284245.4	37	c.73G>A	CCDS45540.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356442	0.11239	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	-0.84	0.10755	.	0.448478	0.20948	N	0.082807	T	0.12220	0.0297	.	.	.	0.24242	N	0.995352	B	0.12630	0.006	B	0.06405	0.002	T	0.34725	-0.9817	8	0.02654	T	1	-27.196	8.0544	0.30596	0.0:0.3031:0.0:0.6969	.	37	Q96GX8	CP074_HUMAN	N	37	.	ENSP00000284245:D37N	D	-	1	0	C16orf74	84301334	0.980000	0.34600	0.996000	0.52242	0.986000	0.74619	-0.165000	0.09968	-0.129000	0.11620	0.561000	0.74099	GAC		0.662	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		20	33	0	0	0	1	0	20	33					T	85743833	C	T	85743833	3	4	68	1	0	0	0	0	1	0	0	0	1838	884	31	1	129	1	C16orf74	16	85743833	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	1529892	85743833	4610920	100	8430											
TP53	7157	broad.mit.edu	37	chr17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgacctggagTcttccagtgtgatgatggtg	14	8	1	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(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)	TGACCTGGAGTCTTCCAGTGT	0.587		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)	ENST00000420246.2		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"		41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)	lung(8)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|liver(2)|skin(2)|pancreas(1)|breast(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						c.(775-777)gAc>gTc	Other conserved DNA damage response genes	tumor protein p53							134	95	108					17																	7577505		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577505T>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.776A>T	17.37:g.7577505T>A	ENSP00000269305:p.Asp259Val	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_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	908	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	259		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.776A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636906	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.6416	0.28296	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.616000	0.46376	2.036000	0.60181	0.379000	0.24179	GAC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	63	0	0	0	1	0	42	63					A	7577505	T	A	7577505	3	1	68	1	0	0	0	0	1	0	0	0	16434	1667	58	5	514	5	TP53	17	7577505	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08		7577505	73617705	101	8431											
PSMD11	5717	broad.mit.edu	37	chr17	30806379	30806379	+	Frame_Shift_Del	DEL	T	T	-													ctgatccgagtcattgagccTttttccagagtacaggtgag							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:30806379delT	ENST00000261712.3	+	10	1286	c.1023delT	c.(1021-1023)cctfs	p.P341fs	PSMD11_ENST00000457654.2_Frame_Shift_Del_p.P341fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	341	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCATTGAGCCTTTTTCCAGAG	0.507																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1021-1023)ccfs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							121	117	118					17																	30806379		2203	4300	6503	SO:0001589	frameshift_variant	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30806379delT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1023delT	17.37:g.30806379delT	ENSP00000261712:p.Pro341fs					PSMD11_ENST00000457654.2_Frame_Shift_Del_p.P341fs	p.P341fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1286	+		Breast(31;0.159)|Ovarian(249;0.182)	341			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Frame_Shift_Del	DEL	ENST00000261712.3	37	c.1023delT	CCDS11272.1																																																																																				0.507	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		8	1040						8	1040	---	---	---	---	-	30806379	T	-	30806379	7	5	68	1	0	1	0	1	0	0	0	0	12741	1596	56	0	1061	0	PSMD11	17	30806379	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	23228874	30806379	50388831	102	8432											
SLFN13	146857	broad.mit.edu	37	chr17	33771812	33771812	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaacacttctacgattttGgtgctgtactctacccgagg	8	11	2	0	rs372414173		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	296						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTACGATTTTGGTGCTGTACT	0.413																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(886-888)acC>acA		schlafen family member 13		G		0,4406		0,0,2203	179	171	174		888	0.1	0	17		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLFN13	NM_144682.5		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		296/898	33771812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33771812G>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.888C>A	17.37:g.33771812G>T						SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron	p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1163	-			296					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.888C>A	CCDS32620.1																																																																																				0.413	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		144	689	1	0	1.19641e-65	1	1.33292e-65	144	689					T	33771812	G	T	33771812	2	4	68	1	0	0	0	0	0	0	0	1	14786	1335	47	3		3	SLFN13	17	33771812	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	2965433	33771812	47423398	103	8433											
STARD3	10948	broad.mit.edu	37	chr17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttcacctgcgacagcGcatcagcgagctgggggccc	13	15	2	0	rs35874339		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H|TCAP_ENST00000578283.1_5'Flank|STARD3_ENST00000580611.1_Missense_Mutation_p.A419T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCGACAGCGCATCAGCGAG	0.667																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1309-1311)cGc>cAc		StAR-related lipid transfer (START) domain containing 3							95	93	94					17																	37819133		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37819133G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1310G>A	17.37:g.37819133G>A	ENSP00000337446:p.Arg437His					STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H	p.R437H	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		15	1528	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		437			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1310G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675964	0.67928	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79141	-1.24;-1.24;-1.24	5.42	5.42	0.78866	Lipid-binding START (3);START-like domain (1);	0.113059	0.64402	D	0.000020	T	0.71392	0.3334	L	0.43757	1.38	0.40933	D	0.984408	B;B;B;B;B	0.30889	0.187;0.299;0.008;0.123;0.021	B;B;B;B;B	0.25405	0.035;0.06;0.005;0.041;0.017	T	0.68934	-0.5278	10	0.29301	T	0.29	.	18.8211	0.92097	0.0:0.0:1.0:0.0	.	437;202;437;419;437	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	H	437;437;419	ENSP00000337446:R437H;ENSP00000439869:R437H;ENSP00000377794:R419H	ENSP00000337446:R437H	R	+	2	0	STARD3	35072659	1.000000	0.71417	0.969000	0.41365	0.686000	0.39977	7.494000	0.81503	2.544000	0.85801	0.561000	0.74099	CGC		0.667	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			6	860	0	0	0	1	0	6	860					A	37819133	G	A	37819133	3	1	68	1	0	0	0	0	1	0	0	0	15309	1087	38	1	1377	1	STARD3	17	37819133	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	4047321	37819133	43376077	104	8434											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacggcctctgggtcccCgcaactttcctagggggcca	13	15	1	0	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000591022.1	-	6	1045	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G220R|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	220					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCTGGGTCCCCGCAACTTTCC	0.597																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(658-660)Ggg>Agg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	64	69	67		658	2.4	0.2	17	dbSNP_134	67	0,8600		0,0,4300	yes	missense	PLEKHH3	NM_024927.4	125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	220/794	40825305	2,13004	2203	4300	6503	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40825305C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.658G>A	17.37:g.40825305C>T	ENSP00000468678:p.Gly220Arg					PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	p.G220R			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	6	1088	-		Breast(137;0.00116)	220					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.658G>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186768	0.38609	4.54E-4	0.0	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.45276	0.9;0.9	5.55	2.39	0.29439	.	0.526619	0.17507	N	0.171775	T	0.19485	0.0468	N	0.14661	0.345	0.09310	N	1	B;B	0.30741	0.143;0.293	B;B	0.15484	0.013;0.01	T	0.13202	-1.0518	10	0.22706	T	0.39	-25.3623	6.8604	0.24064	0.0:0.4169:0.428:0.155	.	220;220	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	R	220	ENSP00000293349:G220R;ENSP00000411885:G220R	ENSP00000293349:G220R	G	-	1	0	PLEKHH3	38078831	0.000000	0.05858	0.202000	0.23494	0.954000	0.61252	0.178000	0.16820	0.415000	0.25817	0.655000	0.94253	GGG		0.597	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		96	137	0	0	0	1	0	96	137					T	40825305	C	T	40825305	3	4	68	1	0	0	0	0	1	0	0	0	12120	652	23	1	1755	1	PLEKHH3	17	40825305	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	3006172	40825305	40369905	105	8435											
CACNA1G	8913	broad.mit.edu	37	chr17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgcggtctggacTatgaggcctacaacagctcc	10	15	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000359106.5	+	6	904	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(904-906)Tat>Cat		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						38	43	41					17																	48650072		2108	4225	6333	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650072T>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.904T>C	17.37:g.48650072T>C	ENSP00000352011:p.Tyr302His					CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y302H	p.Y302H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1276	+	Breast(11;6.7e-17)		302					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.904T>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	10.56	1.385505	0.25031	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.04;-4.04;-4.19;-3.98;-4.03;-4.04;-4.06;-4.14;-4.1;-4.12;-4.13;-4.0;-4.01;-4.08;-4.03;-3.98;-4.06;-4.02;-4.0;-4.07;-4.04;-4.01;-4.06;-4.0;-4.06;-4.06	5.36	4.29	0.51040	Ion transport (1);	0.408184	0.18169	N	0.149521	D	0.96163	0.8749	L	0.39245	1.2	0.34568	D	0.713136	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.89917	0.999;0.015;0.99;0.998;0.994;0.999;0.999;0.014;0.999;0.015;0.014;0.012;0.015;0.014;1.0;0.007;0.999;0.028;0.015;0.015;0.999;0.015;0.014;0.016;0.002;0.998	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.87578	0.997;0.035;0.942;0.986;0.942;0.972;0.998;0.035;0.994;0.035;0.016;0.021;0.035;0.035;0.998;0.035;0.992;0.011;0.035;0.035;0.996;0.035;0.027;0.052;0.003;0.985	D	0.96169	0.9121	10	0.42905	T	0.14	.	8.0638	0.30648	0.0:0.1531:0.0:0.8469	.	302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	302	ENSP00000353990:Y302H;ENSP00000339302:Y302H;ENSP00000392390:Y302H;ENSP00000347078:Y302H;ENSP00000409759:Y302H;ENSP00000425522:Y302H;ENSP00000426261:Y302H;ENSP00000425451:Y302H;ENSP00000422407:Y302H;ENSP00000426814:Y302H;ENSP00000427238:Y302H;ENSP00000423112:Y302H;ENSP00000420918:Y302H;ENSP00000426172:Y302H;ENSP00000423045:Y302H;ENSP00000427173:Y302H;ENSP00000426098:Y302H;ENSP00000425698:Y302H;ENSP00000426232:Y302H;ENSP00000423317:Y302H;ENSP00000350979:Y302H;ENSP00000352011:Y302H;ENSP00000414388:Y302H;ENSP00000423155:Y302H;ENSP00000422268:Y302H;ENSP00000421518:Y302H	ENSP00000339302:Y302H	Y	+	1	0	CACNA1G	46005071	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.449000	0.44935	2.055000	0.61198	0.414000	0.27820	TAT		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		37	78	0	0	0	1	0	37	78					C	48650072	T	C	48650072	3	2	68	1	0	0	0	0	1	0	0	0	2551	1522	53	4	926	4	CACNA1G	17	48650072	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	7824767	48650072	32545138	106	8436											
VEZF1	7716	broad.mit.edu	37	chr17	56060674	56060674	+	Frame_Shift_Del	DEL	A	A	-													ggaagcaatggtttctgatcAgggggctccacggcagagct					rs532205407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56060674delA	ENST00000581208.1	-	2	154	c.114delT	c.(112-114)cctfs	p.P38fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.P29fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(85-87)ccfs		vascular endothelial zinc finger 1							96	104	101					17																	56060674		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060674delA	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.114delT	17.37:g.56060674delA	ENSP00000462337:p.Pro38fs					VEZF1_ENST00000581208.1_Frame_Shift_Del_p.P38fs	p.P29fs			Q14119	VEZF1_HUMAN			2	175	-			38						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.87delT	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			17	381						17	381	---	---	---	---	-	56060674	A	-	56060674	7	5	68	1	0	1	0	1	0	0	0	0	17209	175	7	0	1471	0	VEZF1	17	56060674	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	7410602	56060674	25134536	107	8437											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Frame_Shift_Del	DEL	T	T	-													ctgacagggtcaggtagcccTttttcaggtaactgaaccag							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:76993313delT	ENST00000302345.2	-	2	886	c.392delA	c.(391-393)aagfs	p.K131fs	CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)agfs		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001589	frameshift_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313delT	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392delA	17.37:g.76993313delT	ENSP00000307674:p.Lys131fs					CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs|CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs	p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Frame_Shift_Del	DEL	ENST00000302345.2	37	c.392delA	CCDS11760.1																																																																																				0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	1361						7	1361	---	---	---	---	-	76993313	T	-	76993313	7	5	68	1	0	1	0	1	0	0	0	0	2624	1609	56	0	825	0	CANT1	17	76993313	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	20932639	76993313	4201897	108	8438											
OSBPL1A	114876	broad.mit.edu	37	chr18	21894217	21894217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaatccataagattacctctCttgactgctgaaggctattc	7	10	1	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894217C>G	ENST00000319481.3	-	12	1171	c.965G>C	c.(964-966)aGa>aCa	p.R322T	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	322	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATTACCTCTCTTGACTGCTG	0.378																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(964-966)aGa>aCa		oxysterol binding protein-like 1A							94	92	92					18																	21894217		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894217C>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.965G>C	18.37:g.21894217C>G	ENSP00000320291:p.Arg322Thr						p.R322T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			12	1171	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		322			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.965G>C	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388844	0.82902	.	.	ENSG00000141447	ENST00000319481	T	0.59772	0.24	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.422043	0.28414	N	0.015439	T	0.81564	0.4849	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.999;0.981	D;D	0.78314	0.991;0.966	D	0.83501	0.0075	10	0.52906	T	0.07	-25.6707	19.8161	0.96568	0.0:1.0:0.0:0.0	.	322;322	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	322	ENSP00000320291:R322T	ENSP00000320291:R322T	R	-	2	0	OSBPL1A	20148215	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.495000	0.73665	2.680000	0.91292	0.585000	0.79938	AGA		0.378	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		48	262	0	0	0	1	0	48	262					G	21894217	C	G	21894217	3	3	68	1	0	0	0	0	1	0	0	0	11319	913	32	5	1955	5	OSBPL1A	18	21894217	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		21894217	56183031	109	8439			1	14		4	4	4381	C		1.445588e-06
OSBPL1A	114876	broad.mit.edu	37	chr18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaatggtgtcatcaaagCatttaataaagaagaggcag	10	5	2	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTCATCAAAGCATTTAATAAA	0.363																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(907-909)tGc>tAc		oxysterol binding protein-like 1A							102	102	102					18																	21894274		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894274C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.908G>A	18.37:g.21894274C>T	ENSP00000320291:p.Cys303Tyr						p.C303Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			12	1114	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		303			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.908G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328865	0.81690	.	.	ENSG00000141447	ENST00000319481	T	0.43688	0.94	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.986	T	0.62676	-0.6804	10	0.45353	T	0.12	-16.9032	19.8161	0.96568	0.0:1.0:0.0:0.0	.	303;303	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	303	ENSP00000320291:C303Y	ENSP00000320291:C303Y	C	-	2	0	OSBPL1A	20148272	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.709000	0.74665	2.680000	0.91292	0.585000	0.79938	TGC		0.363	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		65	305	0	0	0	1	0	65	305					T	21894274	C	T	21894274	3	4	68	1	0	0	0	0	1	0	0	0	11319	710	25	2	2012	2	OSBPL1A	18	21894274	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	57	21894274	56182974	110	8440			1	14		4	4	4381	C		1.445588e-06
OSBPL1A	114876	broad.mit.edu	37	chr18	21897296	21897296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcataatacttactgtttCctataccatgaaaggactcc	5	10	1	1	rs367725053		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	267	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTACTGTTTCCTATACCATG	0.313																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(799-801)agG>agA		oxysterol binding protein-like 1A		C		0,4406		0,0,2203	107	116	113		801	3.8	1	18		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OSBPL1A	NM_080597.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		267/951	21897296	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21897296C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.801G>A	18.37:g.21897296C>T							p.R267R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			10	1007	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		267			PH.		B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.801G>A	CCDS11884.1																																																																																				0.313	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		189	251	0	0	0	1	0	189	251					T	21897296	C	T	21897296	2	4	68	1	0	0	0	0	0	0	0	1	11319	854	30	2		2	OSBPL1A	18	21897296	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	3022	21897296	56179952	111	8441			1	14		4	4	4381	C		1.445588e-06
OSBPL1A	114876	broad.mit.edu	37	chr18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatatcgtttcaatgCtttgtagatgacctgtcaaa	7	10	3	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	234	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CGTTTCAATGCTTTGTAGATG	0.279																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(700-702)Gca>Tca		oxysterol binding protein-like 1A							40	41	41					18																	21898597		2202	4295	6497	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21898597C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.700G>T	18.37:g.21898597C>A	ENSP00000320291:p.Ala234Ser						p.A234S	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			9	906	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		234					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.700G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	4.909	0.169002	0.09339	.	.	ENSG00000141447	ENST00000319481	T	0.44881	0.91	5.56	1.49	0.22878	Ankyrin repeat-containing domain (2);	0.491348	0.21599	N	0.071965	T	0.22551	0.0544	N	0.25647	0.755	0.58432	D	0.999998	B;B	0.12630	0.006;0.006	B;B	0.15870	0.014;0.014	T	0.07731	-1.0757	10	0.08599	T	0.76	-5.6116	6.4427	0.21859	0.1097:0.4683:0.3476:0.0743	.	234;234	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	S	234	ENSP00000320291:A234S	ENSP00000320291:A234S	A	-	1	0	OSBPL1A	20152595	0.676000	0.27567	0.851000	0.33527	0.873000	0.50193	0.364000	0.20325	0.284000	0.22305	0.650000	0.86243	GCA		0.279	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		89	343	1	0	1.39521e-32	1	1.50393e-32	89	343					A	21898597	C	A	21898597	3	1	68	1	0	0	0	0	1	0	0	0	11319	797	28	3	2232	3	OSBPL1A	18	21898597	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	1301	21898597	56178651	112	8442			1	14		4	4	4381	C		1.445588e-06
SMAD4	4089	broad.mit.edu	37	chr18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccatatcactacgaaCgagttgtatcacctggaatt	7	9	2	1	rs377767326		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R135*(4)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328																																						ENST00000342988.3																			44	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(4)	p.0?(36)|p.R135*(4)|p.?(4)	pancreas(27)|large_intestine(4)|stomach(3)|breast(3)|upper_aerodigestive_tract(2)|lung(2)|gastrointestinal_tract_(site_indeterminate)(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM064283	SMAD4	M		c.(403-405)Cga>Tga		SMAD family member 4							128	115	119					18																	48575209		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575209C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.403C>T	18.37:g.48575209C>T	ENSP00000341551:p.Arg135*					SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*	p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	941	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	135			MH1.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.403C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.183954	0.99092	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5925	0.68378	0.1465:0.8535:0.0:0.0	.	.	.	.	X	135	.	ENSP00000341551:R135X	R	+	1	2	SMAD4	46829207	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	2.540000	0.85666	0.585000	0.79938	CGA		0.328	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		9	120	0	0	0	1	0	9	120					T	48575209	C	T	48575209	4	4	68	1	0	0	0	0	0	1	0	0	14810	528	19	1	409	1	SMAD4	18	48575209	Nonsense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	26676612	48575209	29502039	113	8443											
ALPK2	115701	broad.mit.edu	37	chr18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attattagcagttaatgttgTtggcttctcccaaggaaaac	8	7	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	990						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAATGTTGTTGGCTTCTCC	0.488																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2968-2970)Aca>Gca		alpha-kinase 2							109	101	104					18																	56204451		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204451T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2968A>G	18.37:g.56204451T>C	ENSP00000354991:p.Thr990Ala					RP11-1151B14.4_ENST00000591360.1_RNA	p.T990A	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3181	-			990					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2968A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065556	0.20067	.	.	ENSG00000198796	ENST00000361673	T	0.52295	0.67	5.41	-6.33	0.01988	.	1.692290	0.03097	N	0.160562	T	0.28234	0.0697	L	0.31926	0.97	0.09310	N	1	B;B	0.22909	0.077;0.046	B;B	0.19391	0.025;0.011	T	0.07986	-1.0744	10	0.22109	T	0.4	0.3807	0.8581	0.01187	0.2972:0.1997:0.0999:0.4031	.	990;990	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	990	ENSP00000354991:T990A	ENSP00000354991:T990A	T	-	1	0	ALPK2	54355431	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.379000	0.07437	-1.405000	0.02048	-2.480000	0.00198	ACA		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	228	0	0	0	1	0	4	228					C	56204451	T	C	56204451	3	2	68	1	0	0	0	0	1	0	0	0	545	1725	60	4	3580	4	ALPK2	18	56204451	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	7629242	56204451	21872797	114	8444											
ZNF266	10781	broad.mit.edu	37	chr19	9526402	9526402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctttggttttaagttgCactttccattctgaagctga	7	8	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTTAAGTTGCACTTTCCATT	0.418																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(130-132)gtG>gtA		zinc finger protein 266							121	114	116					19																	9526402		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526402C>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.132G>A	19.37:g.9526402C>T						ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V	p.V44V			Q14584	ZN266_HUMAN			4	2208	-			44					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	c.132G>A	CCDS12213.1																																																																																				0.418	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			9	232	0	0	0	1	0	9	232					T	9526402	C	T	9526402	2	4	68	1	0	0	0	0	0	0	0	1	17858	697	25	2		2	ZNF266	19	9526402	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		9526402	49602581	115	8445											
ABHD8	79575	broad.mit.edu	37	chr19	17411740	17411740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcatgtcctcagccagcGcatagaaggtgtaggctgcg	13	12	1	1	rs376723965		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:17411740G>A	ENST00000247706.3	-	2	925	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCAGCCAGCGCATAGAAGGT	0.602																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(685-687)gCg>gTg		abhydrolase domain containing 8		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69	75	73		686	5.6	1	19		73	0,8598		0,0,4299	no	missense	ABHD8	NM_024527.4	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	229/440	17411740	1,13003	2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411740G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.686C>T	19.37:g.17411740G>A	ENSP00000247706:p.Ala229Val					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A229V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	925	-			229					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.686C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158303	0.94686	2.27E-4	0.0	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.67865	-0.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.71871	2.18	0.80722	D	1	D	0.56287	0.975	P	0.51415	0.669	T	0.71833	-0.4473	10	0.28530	T	0.3	-40.0914	17.1044	0.86658	0.0:0.0:1.0:0.0	.	229	Q96I13	ABHD8_HUMAN	V	229;175	ENSP00000247706:A229V	ENSP00000247706:A229V	A	-	2	0	ABHD8	17272740	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	9.173000	0.94815	2.644000	0.89710	0.561000	0.74099	GCG		0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		6	455	0	0	0	1	0	6	455					A	17411740	G	A	17411740	3	1	68	1	0	0	0	0	1	0	0	0	87	1087	38	1	649	1	ABHD8	19	17411740	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	7885338	17411740	41717243	116	8446											
RAB3A	5864	broad.mit.edu	37	chr19	18311123	18311151	+	Splice_Site	DEL	TGGGGTACACTCACCAGTCCTGCACTGCA	TGGGGTACACTCACCAGTCCTGCACTGCA	-													aaagaaaaaaaaagagcaagTggggtacactcaccagtcct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA	ENST00000222256.4	-	3	511_526	c.333_348delTGCAGTGCAGGACTGGTGAGTGTACCCCA	c.(331-348)aatgcagtgcaggactgg>aa	p.NAVQDW111fs	RAB3A_ENST00000464076.3_Splice_Site_p.NAVQDW16fs	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	111					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						aaagaGCAAGTGGGGTACACTCACCAGTCCTGCACTGCATTGAAGGATT	0.528																																						ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e3+1		RAB3A, member RAS oncogene family																																				SO:0001630	splice_region_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.347+1TGCAGTGCAGGACTGGTGAGTGTACCCCA>-	19.37:g.18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA						RAB3A_ENST00000464076.2_Splice_Site_p.16_splice	p.111_splice	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			3	511_526	-			111					A8K0J4|Q9NYE1	Splice_Site	DEL	ENST00000222256.4	37	c.347_splice	CCDS12372.1																																																																																				0.528	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866	Frame_Shift_Del	21	209						21	209	---	---	---	---	-	18311151	TGGGGTACACTCACCAGTCCTGCACTGCA	-	18311123	8	5	68	1	0	1	0	1	0	0	1	0	12981	1711	59	0		0	RAB3A	19	18311123	Splice_Site	DEL	TGGGGTACACTCACCAGTCCTGCACTGCA	TCGA-HV-AA8X-01A-11D-A397-08	899383	18311123	40817860	117	8447											
ZNF43	7594	broad.mit.edu	37	chr19	22002025	22002026	+	Splice_Site	INS	-	-	A													cataaatgtcaatggtccctINSaaaaaaaacaacacatacac							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						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.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	7	319						7	319	---	---	---	---	A	22002026	-	A	22002025	8	5	68	1	0	1	1	0	0	0	1	0	17956	1536	53	0	2439	0	ZNF43	19	22002025	Splice_Site	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	3690902	22002025	37126958	118	8448											
IL4I1	259307	broad.mit.edu	37	chr19	50399114	50399114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggcggccaccagcccGgccacaccagcgccaaccac	9	21	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000391826.2	-	3	352	c.210C>T	c.(208-210)gcC>gcT	p.A70A	IL4I1_ENST00000595948.1_Silent_p.A92A|IL4I1_ENST00000341114.3_Silent_p.A92A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCACCAGCCCGGCCACACCAG	0.627																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gcC>gcT		interleukin 4 induced 1							100	107	105					19																	50399114		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50399114G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.210C>T	19.37:g.50399114G>A						IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	p.A92A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	5	896	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	70					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.276C>T	CCDS12787.1																																																																																				0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			31	655	0	0	0	1	0	31	655					A	50399114	G	A	50399114	2	1	68	1	0	0	0	0	0	0	0	1	7727	1103	39	1		1	IL4I1	19	50399114	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	28397089	50399114	8729869	119	8449											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacccgctcctcagtgcTcaccctcatcccacagcccc	4	24	3	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	202	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTCAGTGCTCACCCTCATC	0.657																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(604-606)cTc>cCc		sialic acid binding Ig-like lectin 7							63	62	62					19																	51647834		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647834T>C	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.605T>C	19.37:g.51647834T>C	ENSP00000323328:p.Leu202Pro					SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.L202P	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	674	+		all_neural(266;0.0199)	202			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.605T>C	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.404089	0.42613	.	.	ENSG00000168995	ENST00000317643	T	0.09630	2.96	2.9	2.9	0.33743	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35555	N	0.003139	T	0.34600	0.0903	M	0.90483	3.12	0.43662	D	0.996083	D	0.89917	1.0	D	0.97110	1.0	T	0.16335	-1.0406	10	0.66056	D	0.02	.	7.6424	0.28300	0.0:0.0:0.0:1.0	.	202	Q9Y286	SIGL7_HUMAN	P	202	ENSP00000323328:L202P	ENSP00000323328:L202P	L	+	2	0	SIGLEC7	56339646	0.058000	0.20735	0.647000	0.29507	0.017000	0.09413	3.019000	0.49635	1.360000	0.45960	0.432000	0.28606	CTC		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		5	359	0	0	0	1	0	5	359					C	51647834	T	C	51647834	3	2	68	1	0	0	0	0	1	0	0	0	14363	1551	54	4	611	4	SIGLEC7	19	51647834	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	1248720	51647834	7481149	120	8450											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	273						9	273	---	---	---	---	-	54675749	TCC	-	54675747	7	5	68	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-HV-AA8X-01A-11D-A397-08	3027913	54675747	4453236	121	8451											
TSEN34	79042	broad.mit.edu	37	chr19	54696142	54696142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccacgagctgcgctaCagtatctacagagacctgtg	10	14	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000302937.4_Silent_p.Y221Y|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000396388.2_Silent_p.Y221Y|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000474910.1_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	221					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGCGCTACAGTATCTACA	0.642																																					Esophageal Squamous(37;841 964 4869 42824)	ENST00000396383.1																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(661-663)taC>taT		TSEN34 tRNA splicing endonuclease subunit							60	63	62					19																	54696142		1947	4134	6081	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54696142C>T	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.663C>T	19.37:g.54696142C>T						TSEN34_ENST00000302937.4_Silent_p.Y221Y|TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y	p.Y221Y			Q9BSV6	SEN34_HUMAN			4	974	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		221					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.663C>T	CCDS42609.1																																																																																				0.642	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		51	240	0	0	0	1	0	51	240					T	54696142	C	T	54696142	2	4	68	1	0	0	0	0	0	0	0	1	16666	489	17	2		2	TSEN34	19	54696142	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	20395	54696142	4432841	122	8452											
LILRB1	10859	broad.mit.edu	37	chr19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccagtacagatgctAcggtgcacacaacctctcct	11	14	1	1	rs563262541	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	298	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TACAGATGCTACGGTGCACAC	0.672										HNSCC(37;0.09)			a|||	2	0.000399361	0.0015	0.0	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(892-894)tAc>tCc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							47	49	49					19																	55144146		2203	4298	6501	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144146A>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.893A>C	19.37:g.55144146A>C	ENSP00000379622:p.Tyr298Ser	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S	p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1250	+			298			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.893A>C	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	5.091	0.202429	0.09652	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	2.03	0.938	0.19500	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.252811	0.20873	N	0.084132	T	0.16557	0.0398	M	0.74467	2.265	0.09310	N	0.999994	B;B;P;B;B	0.37233	0.34;0.004;0.588;0.01;0.005	B;B;P;B;B	0.45506	0.261;0.031;0.483;0.031;0.052	T	0.08848	-1.0702	10	0.48119	T	0.1	.	5.3334	0.15945	0.7111:0.2889:0.0:0.0	.	298;298;298;298;298	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	298;298;298;298;298;298;298;298;334;298;298	ENSP00000379614:Y298S;ENSP00000391514:Y298S;ENSP00000409968:Y298S;ENSP00000379622:Y298S;ENSP00000379618:Y298S;ENSP00000315997:Y298S;ENSP00000405243:Y298S;ENSP00000379623:Y298S;ENSP00000395004:Y334S;ENSP00000379610:Y298S;ENSP00000379608:Y298S	ENSP00000315997:Y298S	Y	+	2	0	LILRB1	59835958	0.000000	0.05858	0.217000	0.23759	0.009000	0.06853	-0.248000	0.08854	0.015000	0.14971	-1.341000	0.01249	TAC		0.672	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	276	0	0	0	1	0	4	276					C	55144146	A	C	55144146	3	2	68	1	0	0	0	0	1	0	0	0	8822	391	14	4	911	4	LILRB1	19	55144146	Missense_Mutation	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	448004	55144146	3984837	123	8453											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378105	55378105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagataccagcgtgtacacGgaacttccaaatgctgagcc	9	12	0	2	rs190401211		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL2_ENST00000270442.5_Silent_p.T412T|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Silent_p.T429T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	429					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				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)		GCGTGTACACGGAACTTCCAA	0.522																																						ENST00000326321.3																			0				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						c.(1285-1287)acG>acA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							288	281	283					19																	55378105		2203	4300	6503	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378105G>A	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.1287G>A	19.37:g.55378105G>A						KIR3DL1_ENST00000402254.2_Silent_p.T429T|KIR3DL2_ENST00000270442.5_Silent_p.T412T	p.T429T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1320	+			429					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1287G>A	CCDS12906.1																																																																																				0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			286	596	0	0	0	1	0	286	596					A	55378105	G	A	55378105	2	1	68	1	0	0	0	0	0	0	0	1	8351	1103	39	1		1	KIR3DL2	19	55378105	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	233959	55378105	3750878	124	8454											
KIF16B	55614	broad.mit.edu	37	chr20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatgttcacattttaaaCactctaggatctcctgttct	5	10	5	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	863	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACATTTTAAACACTCTAGGAT	0.403																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2587-2589)tGt>tCt		kinesin family member 16B							151	148	149					20																	16360059		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360059C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2588G>C	20.37:g.16360059C>G	ENSP00000347076:p.Cys863Ser					KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S	p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2745	-			863			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2588G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878412	0.02550	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.6	-10.4	0.00318	.	0.880733	0.10214	N	0.701715	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.001;0.001	B;B;B;B	0.13407	0.006;0.009;0.009;0.003	T	0.26780	-1.0093	10	0.17832	T	0.49	.	5.1572	0.15040	0.1466:0.2449:0.073:0.5355	.	863;863;863;863	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	863;863;707;89;863	ENSP00000347076:C863S;ENSP00000347995:C863S;ENSP00000367242:C89S;ENSP00000384164:C863S	ENSP00000347076:C863S	C	-	2	0	KIF16B	16308059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.795000	0.04580	-2.085000	0.00864	-0.781000	0.03364	TGT		0.403	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		9	485	0	0	0	1	0	9	485					G	16360059	C	G	16360059	3	3	68	1	0	0	0	0	1	0	0	0	8308	478	17	5	1397	5	KIF16B	20	16360059	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		16360059	46665461	125	8455											
MYH7B	26133	broad.mit.edu	37	chr20	33588844	33588844	+	IGR	DEL	G	G	-													caggacacaagtgcacacctGgaacggatgaagaagacgct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33588844delG	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Frame_Shift_Del_p.L1828fs			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCACACCTGGAACGGATGA	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5482-5484)ctfs		myosin, heavy chain 7B, cardiac muscle, beta							57	69	65					20																	33588844		2201	4299	6500	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588844delG	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588844delG							p.L1828fs	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5576	+			1786					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Frame_Shift_Del	DEL	ENST00000252015.2	37	c.5484delG	CCDS13246.1																																																																																				0.652	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		91	210						91	210	---	---	---	---	-	33588844	G	-	33588844	6	5	68	0	1	1	0	1	0	0	0	0	10081	1335	47	0		0	MYH7B	20	33588844	IGR	DEL	G	TCGA-HV-AA8X-01A-11D-A397-08	17228785	33588844	29436676	126	8456											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	156						7	156	---	---	---	---	-	27394184	GTG	-	27394182	7	5	68	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-HV-AA8X-01A-11D-A397-08		27394182	20735713	127	8457											
NEFH	4744	broad.mit.edu	37	chr22	29885876	29885877	+	In_Frame_Ins	INS	-	-	GAAGAA													aagctaagtccccagagaagINSgccaagtccccagagaaggc					rs59890097|rs532587474	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:29885876_29885877insGAAGAA	ENST00000310624.6	+	4	2280_2281	c.2247_2248insGAAGAA	c.(2248-2250)gcc>GAAGAAgcc	p.749_750insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	755	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGCCAAGTCCCC	0.55																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2245-2250)aaccaa>aaGAAGAAccaa		neurofilament, heavy polypeptide																																				SO:0001652	inframe_insertion	4744				cell death|nervous system development	neurofilament		g.chr22:29885876_29885877insGAAGAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885876_29885877insGAAGAA	ENSP00000311997:p.Lys749_Ala750insGluGlu						p.748_749insKK	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2280_2281	+			754			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	c.2247_2248insGAAGAA	CCDS13858.1																																																																																				0.55	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		9	348						9	348	---	---	---	---	GAAGAA	29885877	-	GAAGAA	29885876	7	5	68	1	0	1	1	0	0	0	0	0	10356	991	35	0	2261	0	NEFH	22	29885876	In_Frame_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08		29885876	21418690	128	8458											
MCM5	4174	broad.mit.edu	37	chr22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacgaggggcaggcccGcaaatcgcagctgcagaggc	17	13	0	1	rs367630495		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(79-81)cGc>cAc		minichromosome maintenance complex component 5							37	42	40					22																	35796511		2203	4299	6502	SO:0001583	missense	4174				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|DNA binding|helicase activity|protein binding	g.chr22:35796511G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.80G>A	22.37:g.35796511G>A	ENSP00000216122:p.Arg27His					MCM5_ENST00000382011.5_Missense_Mutation_p.R27H|CTA-286B10.7_ENST00000417343.1_RNA	p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			2	234	+			27					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.80G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874705	0.72180	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.08	5.08	0.68730	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.41628	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.5797	0.50883	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.291000	0.72719	2.342000	0.79632	0.455000	0.32223	CGC		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	281	0	0	0	1	0	5	281					A	35796511	G	A	35796511	3	1	68	1	0	0	0	0	1	0	0	0	9431	1087	38	1	82	1	MCM5	22	35796511	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	5910635	35796511	15508055	129	8459											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		13	231						13	231	---	---	---	---	-	13764946	A	-	13764946	7	5	68	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08		13764946	141505614	130	8460											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	143						7	143	---	---	---	---	-	21627680	GAG	-	21627678	7	5	68	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-HV-AA8X-01A-11D-A397-08	7862732	21627678	133642882	131	8461											
KDM6A	7403	broad.mit.edu	37	chrX	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-													gtctatgaccaatttacattAgtaagtcaaatcaacatgtg							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176delAGTAAGTCAA	c.(4174-4176)tta>tt	p.L1392fs	KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1392					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTTACATTAGTAAGTCAAATCAACATGT	0.376			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969494_44969503delAGTAAGTCAA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1AGTAAGTCAA>-	X.37:g.44969494_44969503delAGTAAGTCAA						KDM6A_ENST00000536777.1_Splice_Site_p.1347_splice|KDM6A_ENST00000543216.1_Splice_Site_p.1313_splice|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.1399_splice	p.1392_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4217	+			1392					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4176_splice	CCDS14265.1																																																																																				0.376	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	41	185						41	185	---	---	---	---	-	44969503	AGTAAGTCAA	-	44969494	8	5	68	1	0	1	0	1	0	0	1	0	8167	434	15	0	4286	0	KDM6A	23	44969494	Splice_Site	DEL	AGTAAGTCAA	TCGA-HV-AA8X-01A-11D-A397-08	23341816	44969494	110301066	132	8462											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	346						10	346	---	---	---	---	-	54578341	GAA	-	54578339	7	5	68	1	0	1	0	1	0	0	0	0	6567	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-HV-AA8X-01A-11D-A397-08	9608845	54578339	100692221	133	8463											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		4	135	0	0	0	1	0	4	135					T	66765161	A	T	66765161	3	4	68	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	12186822	66765161	88505399	134	8464											
DLG3	1741	broad.mit.edu	37	chrX	69713266	69713266	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagagtttccgcctctctcGaaagtttccattttacaaga	6	10	1	2	rs181757438		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:69713266G>A	ENST00000374360.3	+	12	2006				DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374355.3_Missense_Mutation_p.R268Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGCCTCTCTCGAAAGTTTCCA	0.448																																						ENST00000374355.3																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(802-804)cGa>cAa		discs, large homolog 3 (Drosophila)							60	51	54					X																	69713266		1985	4147	6132	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69713266G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1773+820G>A	X.37:g.69713266G>A						DLG3_ENST00000194900.4_Intron|DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000374360.3_Intron	p.R268Q	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN			7	1120	+	Renal(35;0.156)		592			PDZ 2.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.803G>A	CCDS14403.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.94	2.980848	0.53827	.	.	ENSG00000082458	ENST00000374355;ENST00000542398	T;T	0.17854	2.25;2.99	4.79	3.92	0.45320	.	.	.	.	.	T	0.11836	0.0288	.	.	.	0.26602	N	0.972998	B;B	0.16166	0.016;0.016	B;B	0.10450	0.004;0.005	T	0.25710	-1.0124	7	.	.	.	.	11.3159	0.49392	0.0898:0.0:0.9102:0.0	.	122;268	B4E0H1;Q5JUW6	.;.	Q	268;122	ENSP00000363475:R268Q;ENSP00000441393:R122Q	.	R	+	2	0	DLG3	69629991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.184000	0.94893	1.015000	0.39444	-0.192000	0.12808	CGA		0.448	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		40	99	0	0	0	1	0	40	99					A	69713266	G	A	69713266	1	1	68	0	1	0	0	0	0	0	0	0	4572	1058	37	1		1	DLG3	23	69713266	Intron	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	2948105	69713266	85557294	135	8465											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	153						9	153	---	---	---	---	-	70360682	GCA	-	70360680	7	5	68	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-HV-AA8X-01A-11D-A397-08	647414	70360680	84909880	136	8466											
BRWD3	254065	broad.mit.edu	37	chrX	79985487	79985487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatactgccaaattcttgccGttccatctcgacttccacta	5	14	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1159-1161)aCg>aTg		bromodomain and WD repeat domain containing 3							157	132	140					X																	79985487		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79985487G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1160C>T	X.37:g.79985487G>A	ENSP00000362372:p.Thr387Met						p.T387M	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			13	1376	-			387					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1160C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	174	0	0	0	1	0	5	174					A	79985487	G	A	79985487	3	1	68	1	0	0	0	0	1	0	0	0	1530	1145	40	1	4364	1	BRWD3	23	79985487	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	9624807	79985487	75285073	137	8467											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		11	670						11	670	---	---	---	---	-	102004421	GAG	-	102004419	7	5	68	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-HV-AA8X-01A-11D-A397-08	22018932	102004419	53266141	138	8468											
CAPN6	827	broad.mit.edu	37	chrX	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-													gattccagctcctttcggccAaaaatagggttgttcacatt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331	293	306					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	1763						7	1763	---	---	---	---	-	110494259	A	-	110494259	7	5	68	1	0	1	0	1	0	0	0	0	2637	127	5	0	905	0	CAPN6	23	110494259	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	8489840	110494259	44776301	139	8469											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299404	125299404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctgttggggttttcGccgccggtggccagaagcgt	17	11	0	1	rs200451403		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000360028.2	-	1	530	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000538699.1_Silent_p.G168G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	168										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGGGTTTTCGCCGCCGGTGG	0.672													G|||	8	0.00211921	0.0053	0.0	3775	,	,		10935	0.001		0.0	False		,,,				2504	0.0					ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(502-504)ggC>ggT		DDB1 and CUL4 associated factor 12-like 2		G		18,3817		0,14,4,1618,567	62	69	67		504	-7.2	0	X		67	0,6728		0,0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,14,4,4046,2439	AA,AG,A,GG,G		0.0,0.4694,0.1704		168/464	125299404	18,10545	2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299404G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.504C>T	X.37:g.125299404G>A						DCAF12L2_ENST00000360028.2_Silent_p.G168G	p.G168G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	584	-			168					B2RN42	Silent	SNP	ENST00000360028.2	37	c.504C>T	CCDS43991.1																																																																																				0.672	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		78	222	0	0	0	1	0	78	222					A	125299404	G	A	125299404	2	1	68	1	0	0	0	0	0	0	0	1	4276	1074	38	1		1	DCAF12L2	23	125299404	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	14805145	125299404	29971156	140	8470											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686253	125686253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttacacttggtgccGcacaccacctgcctggagtt	11	13	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(337-339)tgC>tgT		DDB1 and CUL4 associated factor 12-like 1							112	85	94					X																	125686253		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686253G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.339C>T	X.37:g.125686253G>A							p.C113C	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	581	-			113					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.339C>T	CCDS14610.1																																																																																				0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		5	291	0	0	0	1	0	5	291					A	125686253	G	A	125686253	2	1	68	1	0	0	0	0	0	0	0	1	4275	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	386849	125686253	29584307	141	8471											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1439	0	0	0	1	0	9	1439					A	140994960	G	A	140994960	2	1	68	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	15308707	140994960	14275600	142	8472											
MAGEC1	9947	broad.mit.edu	37	chrX	140995016	140995016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactccatgtctcctcTctactttcctcagagtcctc	7	15	3	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193	205	201					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1208	0	0	0	1	0	9	1208					A	140995016	T	A	140995016	3	1	68	1	0	0	0	0	1	0	0	0	9221	1551	54	5	1832	5	MAGEC1	23	140995016	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	56	140995016	14275544	143	8473											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	197						9	197	---	---	---	---	-	149639327	CAG	-	149639325	7	5	68	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-HV-AA8X-01A-11D-A397-08	8644309	149639325	5631235	144	8474											
GDI1	2664	broad.mit.edu	37	chrX	153665646	153665646	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggaccggtctcaccGtaagtgcggccccggcgccc	15	16	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e1+1		GDP dissociation inhibitor 1							68	45	53					X																	153665646		2201	4300	6501	SO:0001630	splice_region_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153665646G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.45+1G>A	X.37:g.153665646G>A								NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			1	380	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Splice_Site	SNP	ENST00000447750.2	37		CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469539	0.43839	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1083	0.53825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDI1	153318840	1.000000	0.71417	0.982000	0.44146	0.236000	0.25371	8.579000	0.90781	1.690000	0.51089	0.284000	0.19432	.		0.697	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493	Intron	4	149	0	0	0	1	0	4	149					A	153665646	G	A	153665646	5	1	68	1	0	0	0	0	0	0	1	0	6349	1159	40	1	48	1	GDI1	23	153665646	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	4026321	153665646	1604914	145	8475											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	476						8	476	---	---	---	---	-	154157686	T	-	154157686	7	5	68	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	492040	154157686	1112874	146	8476											
CELA3A	10136	broad.mit.edu	37	chr1	22331987	22331987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctaccacacgtgtggCggtagcctcatcgcccccga	10	16	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:22331987C>T	ENST00000290122.3	+	3	196	c.177C>T	c.(175-177)ggC>ggT	p.G59G	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Silent_p.G59G	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACACGTGTGGCGGTAGCCTCA	0.622											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(175-177)ggC>ggT		chymotrypsin-like elastase family, member 3A							89	103	98					1																	22331987		2197	4300	6497	SO:0001819	synonymous_variant	10136							g.chr1:22331987C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.177C>T	1.37:g.22331987C>T			OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3A_ENST00000374663.1_Silent_p.G59G	p.G59G	NM_005747.4	NP_005738.4					3	196	+								B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	c.177C>T	CCDS220.1																																																																																				0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		51	504	0	0	0	1	0	51	504					T	22331987	C	T	22331987	2	4	69	1	0	0	0	0	0	0	0	1	3222	755	27	1		1	CELA3A	1	22331987	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		22331987	226918634	1	8477											
DMAP1	55929	broad.mit.edu	37	chr1	44680376	44680376	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctaaacctccctgccaggGatgcacccccactgctaccc	6	21	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:44680376G>C	ENST00000372289.2	+	3	462	c.199G>C	c.(199-201)Gat>Cat	p.D67H	DMAP1_ENST00000315913.5_Splice_Site_p.D67H|DMAP1_ENST00000361745.6_Splice_Site_p.D67H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	67					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCCTGCCAGGGATGCACCCCC	0.537																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.e3-1		DNA methyltransferase 1 associated protein 1							90	83	85					1																	44680376		2203	4300	6503	SO:0001630	splice_region_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680376G>C	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.198-1G>C	1.37:g.44680376G>C						DMAP1_ENST00000315913.5_Splice_Site_p.D67_splice|DMAP1_ENST00000361745.6_Splice_Site_p.D67_splice	p.D67_splice	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			3	462	+	Acute lymphoblastic leukemia(166;0.155)		67					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Splice_Site	SNP	ENST00000372289.2	37	c.197_splice	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008721	0.93346	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.85945	2.785	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	0.80764	0.99;0.993;0.994;0.991;0.991;0.99	T	0.63756	-0.6565	10	0.66056	D	0.02	-13.9902	19.3227	0.94248	0.0:0.0:1.0:0.0	.	67;67;67;67;93;67	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	H	67;67;93;67;93;93;67;67;38	ENSP00000354697:D67H;ENSP00000409200:D67H;ENSP00000401099:D67H;ENSP00000400269:D93H;ENSP00000402494:D93H;ENSP00000312697:D67H;ENSP00000361363:D67H;ENSP00000361364:D38H	ENSP00000312697:D67H	D	+	1	0	DMAP1	44452963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.655000	0.94253	GAT		0.537	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	Missense_Mutation	58	390	0	0	0	1	0	58	390					C	44680376	G	C	44680376	5	2	69	1	0	0	0	0	0	0	1	0	4592	1188	41	5	209	5	DMAP1	1	44680376	Splice_Site	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	22348389	44680376	204570245	2	8478											
ZSWIM5	57643	broad.mit.edu	37	chr1	45486422	45486422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaatgaatgtgcttctGtattgcttccagaattgttc	10	6	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:45486422G>T	ENST00000359600.5	-	12	2693	c.2488C>A	c.(2488-2490)Cag>Aag	p.Q830K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	830						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTGCTTCTGTATTGCTTCC	0.448																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2488-2490)Cag>Aag		zinc finger, SWIM-type containing 5							266	258	260					1																	45486422		1944	4143	6087	SO:0001583	missense	57643						zinc ion binding	g.chr1:45486422G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2488C>A	1.37:g.45486422G>T	ENSP00000352614:p.Gln830Lys						p.Q830K	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			12	2693	-	Acute lymphoblastic leukemia(166;0.155)		830					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2488C>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028140	0.93518	.	.	ENSG00000162415	ENST00000359600	T	0.49720	0.77	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.79258	2.445	0.80722	D	1	D	0.58620	0.983	D	0.63488	0.915	T	0.69468	-0.5137	10	0.48119	T	0.1	-12.8264	19.6388	0.95749	0.0:0.0:1.0:0.0	.	830	Q9P217	ZSWM5_HUMAN	K	830	ENSP00000352614:Q830K	ENSP00000352614:Q830K	Q	-	1	0	ZSWIM5	45259009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.173000	0.94815	2.815000	0.96918	0.561000	0.74099	CAG		0.448	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		160	990	1	0	4.16832e-71	1	4.66577e-71	160	990					T	45486422	G	T	45486422	3	4	69	1	0	0	0	0	1	0	0	0	18297	1386	48	3	1081	3	ZSWIM5	1	45486422	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	806046	45486422	203764199	3	8479											
CDCP2	200008	broad.mit.edu	37	chr1	54605517	54605517	+	Frame_Shift_Del	DEL	T	T	-													ttgtggcttgaggtcacgggTggtggcaggtggtgtccaca							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:54605517delT	ENST00000371330.1	-	4	1873	c.1026delA	c.(1024-1026)ccafs	p.P343fs	CDCP2_ENST00000530059.1_5'UTR|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	343	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGGTCACGGGTGGTGGCAGGT	0.632																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1024-1026)ccfs		CUB domain containing protein 2							46	49	48					1																	54605517		2203	4300	6503	SO:0001589	frameshift_variant	200008					extracellular region		g.chr1:54605517delT		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1026delA	1.37:g.54605517delT	ENSP00000360381:p.Pro343fs					CDCP2_ENST00000530059.1_5'UTR	p.P343fs	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	1873	-			343			CUB 3.		Q6ZWJ3	Frame_Shift_Del	DEL	ENST00000371330.1	37	c.1026delA	CCDS588.2																																																																																				0.632	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		43	270						43	270	---	---	---	---	-	54605517	T	-	54605517	7	5	69	1	0	1	0	1	0	0	0	0	3103	1683	59	0	327	0	CDCP2	1	54605517	Frame_Shift_Del	DEL	T	TCGA-HZ-7918-01A-11D-2154-08	9119095	54605517	194645104	4	8480											
KCNC4	3749	broad.mit.edu	37	chr1	110768648	110768664	+	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	-													gctgtctgatgaggagggagCtggcctcacccaacccctgg					rs371019224		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	ENST00000369787.3	+	3	1694_1710	c.1667_1683delCTGGCCTCACCCAACCC	c.(1666-1683)gctggcctcacccaacccfs	p.AGLTQP556fs	KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	556					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT	0.641																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1666-1683)gfs		potassium voltage-gated channel, Shaw-related subfamily, member 4																																				SO:0001589	frameshift_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1667_1683delCTGGCCTCACCCAACCC	1.37:g.110768648_110768664delCTGGCCTCACCCAACCC	ENSP00000358802:p.Ala556fs					KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron	p.AGLTQP556fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1694_1710	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	556					Q3MIM4|Q5TBI6	Frame_Shift_Del	DEL	ENST00000369787.3	37	c.1667_1683delCTGGCCTCACCCAACCC	CCDS821.1																																																																																				0.641	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		51	300						51	300	---	---	---	---	-	110768664	CTGGCCTCACCCAACCC	-	110768648	7	5	69	1	0	1	0	1	0	0	0	0	8047	797	28	0	1811	0	KCNC4	1	110768648	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	TCGA-HZ-7918-01A-11D-2154-08	56163131	110768648	138481973	5	8481											
C1orf162	128346	broad.mit.edu	37	chr1	112020662	112020662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacaactttcaaactctcaGaagaaaagagcaatcacttg	6	10	3	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:112020662G>A	ENST00000343534.5	+	6	635	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	129						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAACTCTCAGAAGAAAAGAG	0.433																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(385-387)Gaa>Aaa		chromosome 1 open reading frame 162							104	99	100					1																	112020662		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020662G>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.385G>A	1.37:g.112020662G>A	ENSP00000344218:p.Glu129Lys					C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K|C1orf162_ENST00000464591.1_3'UTR	p.E129K	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	635	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	129					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.385G>A	CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790336	0.70337	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96168	-3.93;-3.93	5.33	2.41	0.29592	.	0.433811	0.19760	N	0.106688	T	0.80849	0.4702	N	0.20986	0.625	0.09310	N	1	P	0.36144	0.539	B	0.33799	0.17	T	0.74064	-0.3785	10	0.39692	T	0.17	-7.762	5.2195	0.15362	0.181:0.169:0.65:0.0	.	129	Q8NEQ5	CA162_HUMAN	K	129;104	ENSP00000344218:E129K;ENSP00000358732:E104K	ENSP00000344218:E129K	E	+	1	0	C1orf162	111822185	0.001000	0.12720	0.017000	0.16124	0.172000	0.22775	0.239000	0.18023	0.365000	0.24400	0.655000	0.94253	GAA		0.433	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		67	339	0	0	0	1	0	67	339					A	112020662	G	A	112020662	3	1	69	1	0	0	0	0	1	0	0	0	2017	943	33	2	403	2	C1orf162	1	112020662	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1252014	112020662	137229959	6	8482											
CD58	965	broad.mit.edu	37	chr1	117087113	117087113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccagttctgcaacttTatccttttgttttttccata	3	9	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:117087113T>C	ENST00000369489.5	-	2	250	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CD58_ENST00000369487.3_Missense_Mutation_p.K62E|CD58_ENST00000457047.2_Missense_Mutation_p.K62E	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	62	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCTGCAACTTTATCCTTTTGT	0.348																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(184-186)Aaa>Gaa		CD58 molecule							78	77	77					1																	117087113		2203	4300	6503	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117087113T>C	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.184A>G	1.37:g.117087113T>C	ENSP00000358501:p.Lys62Glu					CD58_ENST00000369489.5_Missense_Mutation_p.K62E|CD58_ENST00000369487.3_Missense_Mutation_p.K62E	p.K62E	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	237	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	62					A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.184A>G	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436430	0.62955	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	3.86	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.138000	0.06498	N	0.735875	T	0.28433	0.0703	L	0.58810	1.83	0.25688	N	0.985724	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.985;0.994	T	0.12528	-1.0544	10	0.56958	D	0.05	-31.9159	9.2366	0.37470	0.0:0.0:0.0:1.0	.	62;62;62	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	E	62;62;34;62	ENSP00000358501:K62E;ENSP00000409080:K62E;ENSP00000433648:K34E;ENSP00000358499:K62E	ENSP00000358499:K62E	K	-	1	0	CD58	116888636	0.934000	0.31675	0.828000	0.32881	0.100000	0.18952	1.517000	0.35867	1.740000	0.51718	0.459000	0.35465	AAA		0.348	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		38	168	0	0	0	1	0	38	168					C	117087113	T	C	117087113	3	2	69	1	0	0	0	0	1	0	0	0	3034	1763	61	4	592	4	CD58	1	117087113	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	5066451	117087113	132163508	7	8483											
OTUD7B	56957	broad.mit.edu	37	chr1	149920861	149920869	+	Splice_Site	DEL	CCTGGCTTA	CCTGGCTTA	-													aaatagatgaaaagactaggCctggcttacctggccaatcg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:149920861_149920869delCCTGGCTTA	ENST00000369135.4	-	10	1533		c.e10+1			NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B						mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGACTAGGCCTGGCTTACCTGGCCAAT	0.498																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e10+1		OTU domain containing 7B																																				SO:0001630	splice_region_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149920861_149920869delCCTGGCTTA	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1238+1TAAGCCAGG>-	1.37:g.149920861_149920869delCCTGGCTTA								NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		10	1533	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Splice_Site	DEL	ENST00000369135.4	37		CCDS41389.1																																																																																				0.498	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205	Intron	26	353						26	353	---	---	---	---	-	149920869	CCTGGCTTA	-	149920861	8	5	69	1	0	1	0	1	0	0	1	0	11361	754	26	0		0	OTUD7B	1	149920861	Splice_Site	DEL	CCTGGCTTA	TCGA-HZ-7918-01A-11D-2154-08	32833748	149920861	99329760	8	8484											
UBE2Q1	55585	broad.mit.edu	37	chr1	154525225	154525225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactcaccgcctttgaaactCtgtgatcggtatatatccct	6	12	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154525225C>G	ENST00000292211.4	-	6	880	c.801G>C	c.(799-801)caG>caC	p.Q267H	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	267					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGAAACTCTGTGATCGGT	0.572																																						ENST00000292211.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(799-801)caG>caC		ubiquitin-conjugating enzyme E2Q family member 1							59	63	62					1																	154525225		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154525225C>G	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.801G>C	1.37:g.154525225C>G	ENSP00000292211:p.Gln267His					UBE2Q1_ENST00000497453.1_5'UTR	p.Q267H	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	880	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		267					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.801G>C	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493961	0.44352	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	4.19	0.49359	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.62723	1.935	0.42318	D	0.992249	B	0.22851	0.076	B	0.21546	0.035	T	0.55566	-0.8121	9	0.66056	D	0.02	-10.7848	9.0263	0.36232	0.0:0.8603:0.0:0.1397	.	267	Q7Z7E8	UB2Q1_HUMAN	H	267	.	ENSP00000292211:Q267H	Q	-	3	2	UBE2Q1	152791849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.740000	0.47418	2.701000	0.92244	0.563000	0.77884	CAG		0.572	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		20	465	0	0	0	1	0	20	465					G	154525225	C	G	154525225	3	3	69	1	0	0	0	0	1	0	0	0	16923	912	32	5	499	5	UBE2Q1	1	154525225	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4604364	154525225	94725396	9	8485											
CHRNB2	1141	broad.mit.edu	37	chr1	154544140	154544140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctcacggtcttcctgCtgctcatctccaagatcgtg	10	14	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154544140C>G	ENST00000368476.3	+	5	1105	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	281					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGTCTTCCTGCTGCTCATCTC	0.577																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(841-843)Ctg>Gtg		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						244	181	202					1																	154544140		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544140C>G	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.841C>G	1.37:g.154544140C>G	ENSP00000357461:p.Leu281Val						p.L281V	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1105	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		281					Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.841C>G	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549775	0.65311	.	.	ENSG00000160716	ENST00000368476	D	0.87571	-2.27	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.95085	0.8408	H	0.96015	3.755	0.58432	D	0.999999	D	0.64830	0.994	D	0.85130	0.997	D	0.96704	0.9520	10	0.87932	D	0	.	15.8078	0.78527	0.0:1.0:0.0:0.0	.	281	P17787	ACHB2_HUMAN	V	281	ENSP00000357461:L281V	ENSP00000357461:L281V	L	+	1	2	CHRNB2	152810764	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.888000	0.56204	2.024000	0.59613	0.313000	0.20887	CTG		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		71	623	0	0	0	1	0	71	623					G	154544140	C	G	154544140	3	3	69	1	0	0	0	0	1	0	0	0	3400	796	28	5	859	5	CHRNB2	1	154544140	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	18915	154544140	94706481	10	8486											
OR10K2	391107	broad.mit.edu	37	chr1	158390123	158390123	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggacaggagcaatgtcacaGaagaagtgatgtagttgatt	13	4	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158390123G>A	ENST00000314902.2	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAATGTCACAGAAGAAGTGAT	0.463																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(532-534)ttC>ttT		olfactory receptor, family 10, subfamily K, member 2							158	139	146					1																	158390123		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390123G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.534C>T	1.37:g.158390123G>A							p.F178F	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	533	-	all_hematologic(112;0.0378)		178						Silent	SNP	ENST00000314902.2	37	c.534C>T	CCDS30896.1																																																																																				0.463	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		91	470	0	0	0	1	0	91	470					A	158390123	G	A	158390123	2	1	69	1	0	0	0	0	0	0	0	1	10956	933	33	2		2	OR10K2	1	158390123	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	3845983	158390123	90860498	11	8487											
OR6Y1	391112	broad.mit.edu	37	chr1	158517108	158517108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgggacgggcatagGtgaaaagtgtcatggaatag	16	3	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158517108G>T	ENST00000302617.3	-	1	787	c.788C>A	c.(787-789)aCc>aAc	p.T263N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACGGGCATAGGTGAAAAGTGT	0.483																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(787-789)aCc>aAc		olfactory receptor, family 6, subfamily Y, member 1							201	191	194					1																	158517108		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517108G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.788C>A	1.37:g.158517108G>T	ENSP00000304807:p.Thr263Asn						p.T263N	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	787	-	all_hematologic(112;0.0378)		263					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.788C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625712	0.46840	.	.	ENSG00000197532	ENST00000302617	T	0.00145	8.67	5.34	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.00109	0.0003	L	0.35542	1.07	0.23649	N	0.997204	D	0.89917	1.0	D	0.79108	0.992	T	0.54186	-0.8331	10	0.41790	T	0.15	.	9.8124	0.40831	0.1588:0.0:0.8412:0.0	.	263	Q8NGX8	OR6Y1_HUMAN	N	263	ENSP00000304807:T263N	ENSP00000304807:T263N	T	-	2	0	OR6Y1	156783732	0.009000	0.17119	0.996000	0.52242	0.943000	0.58893	0.043000	0.13971	2.763000	0.94921	0.655000	0.94253	ACC		0.483	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		98	608	1	0	9.86815e-39	1	1.09557e-38	98	608					T	158517108	G	T	158517108	3	4	69	1	0	0	0	0	1	0	0	0	11255	1261	44	3	191	3	OR6Y1	1	158517108	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	126985	158517108	90733513	12	8488											
PPOX	5498	broad.mit.edu	37	chr1	161139773	161139773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcagtgtctgtagctGtggtgaatctgcagtaccaa	11	9	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161139773G>T	ENST00000367999.4	+	9	1212	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	316					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTGTAGCTGTGGTGAATCT	0.577																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(946-948)Gtg>Ttg		protoporphyrinogen oxidase							72	62	66					1																	161139773		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139773G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.946G>T	1.37:g.161139773G>T	ENSP00000356978:p.Val316Leu					PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron	p.V316L	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1212	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		316					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.946G>T	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401786	0.83120	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92805	-3.11;-3.11	5.43	5.43	0.79202	Amine oxidase (1);	0.060479	0.64402	D	0.000004	D	0.88753	0.6522	L	0.38838	1.175	0.80722	D	1	P;D;P	0.54047	0.506;0.964;0.618	P;P;B	0.51101	0.534;0.659;0.357	D	0.88229	0.2902	10	0.41790	T	0.15	-15.1906	14.6179	0.68562	0.0:0.0:1.0:0.0	.	283;154;316	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	L	316;316;283	ENSP00000343943:V316L;ENSP00000356978:V316L	ENSP00000343943:V316L	V	+	1	0	PPOX	159406397	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	7.018000	0.76406	2.823000	0.97156	0.650000	0.86243	GTG		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		19	187	1	0	8.28177e-16	1	8.73117e-16	19	187					T	161139773	G	T	161139773	3	4	69	1	0	0	0	0	1	0	0	0	12395	1377	48	3	976	3	PPOX	1	161139773	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	2622665	161139773	88110848	13	8489											
HMCN1	83872	broad.mit.edu	37	chr1	185966578	185966578	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagaaccacccacagtggaaGatctagaacctccatataac	6	12	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:185966578G>C	ENST00000271588.4	+	25	4025	c.3796G>C	c.(3796-3798)Gat>Cat	p.D1266H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1266	Ig-like C2-type 10.				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)			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						CACAGTGGAAGATCTAGAACC	0.383																																						ENST00000271588.4																			0				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						c.(3796-3798)Gat>Cat		hemicentin 1							120	108	112					1																	185966578		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185966578G>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.3796G>C	1.37:g.185966578G>C	ENSP00000271588:p.Asp1266His					HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			25	4025	+			1266			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3796G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660822	0.88154	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.21	5.51	5.51	0.81932	Immunoglobulin-like (1);	0.211109	0.48286	D	0.000184	T	0.62539	0.2436	L	0.43923	1.385	0.51012	D	0.999907	B	0.15930	0.015	B	0.15052	0.012	T	0.55774	-0.8088	10	0.36615	T	0.2	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	1266	Q96RW7	HMCN1_HUMAN	H	1266	ENSP00000271588:D1266H;ENSP00000356462:D1266H	ENSP00000271588:D1266H	D	+	1	0	HMCN1	184233201	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.922000	0.70036	2.736000	0.93811	0.655000	0.94253	GAT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		50	282	0	0	0	1	0	50	282					C	185966578	G	C	185966578	3	2	69	1	0	0	0	0	1	0	0	0	7250	942	33	5	3894	5	HMCN1	1	185966578	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	24826805	185966578	63284043	14	8490											
CRB1	23418	broad.mit.edu	37	chr1	197404147	197404147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccagacctccaggtggCaaatggaagtggacaacgaa	12	10	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:197404147C>G	ENST00000367400.3	+	9	3289	c.3154C>G	c.(3154-3156)Caa>Gaa	p.Q1052E	CRB1_ENST00000367397.1_Missense_Mutation_p.Q433E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1052	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CTCCAGGTGGCAAATGGAAGT	0.453																																						ENST00000367397.1																			0				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						c.(1297-1299)Caa>Gaa		crumbs homolog 1 (Drosophila)							78	81	80					1																	197404147		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.chr1:197404147C>G		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.3154C>G	1.37:g.197404147C>G	ENSP00000356370:p.Gln1052Glu					CRB1_ENST00000367400.3_Missense_Mutation_p.Q1052E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|CRB1_ENST00000538660.1_Intron	p.Q433E			P82279	CRUM1_HUMAN			5	2155	+			1052		Y -> C (in RP12).	EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1297C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113985	0.20795	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.7	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70509	0.3232	M	0.68317	2.08	0.38634	D	0.951453	P;P;B;P	0.38280	0.571;0.571;0.228;0.625	B;B;B;B	0.38156	0.121;0.229;0.083;0.266	T	0.68112	-0.5495	9	0.02654	T	1	.	10.6667	0.45734	0.1324:0.7976:0.0:0.0701	.	1028;940;701;1052	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	E	1028;1052;940;533;433;701	ENSP00000438786:Q1028E;ENSP00000356370:Q1052E;ENSP00000356369:Q940E;ENSP00000444556:Q533E;ENSP00000356367:Q433E	ENSP00000356367:Q433E	Q	+	1	0	CRB1	195670770	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.552000	0.45828	2.681000	0.91329	0.650000	0.86243	CAA		0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		22	492	0	0	0	1	0	22	492					G	197404147	C	G	197404147	3	3	69	1	0	0	0	0	1	0	0	0	3857	711	25	5	3188	5	CRB1	1	197404147	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	11437569	197404147	51846474	15	8491											
DYRK3	8444	broad.mit.edu	37	chr1	206822032	206822032	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatgactacttgtttataGagttcttgaaaaggtgtctt	10	4	2	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:206822032G>A	ENST00000367109.2	+	3	1657	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.E477K	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGTTTATAGAGTTCTTGAA	0.547																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1429-1431)Gag>Aag		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							59	62	61					1																	206822032		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206822032G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1489G>A	1.37:g.206822032G>A	ENSP00000356076:p.Glu497Lys					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000367109.2_Missense_Mutation_p.E497K	p.E477K			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1902	+	Breast(84;0.183)		497			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1429G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763548	0.69878	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20332	2.08;2.08;2.08	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100076	0.64402	D	0.000001	T	0.25005	0.0607	N	0.26130	0.795	0.58432	D	0.999997	P;P	0.45902	0.486;0.868	P;P	0.48189	0.484;0.57	T	0.01326	-1.1384	10	0.87932	D	0	.	18.1352	0.89617	0.0:0.0:1.0:0.0	.	497;477	O43781;O43781-2	DYRK3_HUMAN;.	K	497;477;477	ENSP00000356076:E497K;ENSP00000356075:E477K;ENSP00000356073:E477K	ENSP00000356073:E477K	E	+	1	0	DYRK3	204888655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.765000	0.95021	0.555000	0.69702	GAG		0.547	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		19	575	0	0	0	1	0	19	575					A	206822032	G	A	206822032	3	1	69	1	0	0	0	0	1	0	0	0	4873	943	33	2	1520	2	DYRK3	1	206822032	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	9417885	206822032	42428589	16	8492											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220326745	220326745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgacaactttcaataAgaacttgaaaatggagaaag	8	6	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:220326745A>C	ENST00000358951.2	-	33	3765	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1217					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.L1217V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACTTTCAATAAGAACTTGAAA	0.408																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.L1217V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3649-3651)Tta>Gta		RAB3 GTPase activating protein subunit 2 (non-catalytic)							115	115	115					1																	220326745		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220326745A>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3649T>G	1.37:g.220326745A>C	ENSP00000351832:p.Leu1217Val						p.L1217V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	33	3765	-			1217					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3649T>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816980	0.70912	.	.	ENSG00000118873	ENST00000358951	T	0.61627	0.09	5.69	3.39	0.38822	.	0.080791	0.49916	D	0.000135	T	0.64249	0.2581	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63510	-0.6621	10	0.66056	D	0.02	.	9.892	0.41296	0.8627:0.0:0.1373:0.0	.	1217;1217	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1217	ENSP00000351832:L1217V	ENSP00000351832:L1217V	L	-	1	2	RAB3GAP2	218393368	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	0.975000	0.29449	0.538000	0.28769	0.529000	0.55759	TTA		0.408	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		80	370	0	0	0	1	0	80	370					C	220326745	A	C	220326745	3	2	69	1	0	0	0	0	1	0	0	0	12986	69	3	4	544	4	RAB3GAP2	1	220326745	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	13504713	220326745	28923876	17	8493											
PLB1	151056	broad.mit.edu	37	chr2	28849295	28849295	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggatcttctgtcccctcagGacatcaacctggagaaagac	9	12	4	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:28849295G>T	ENST00000327757.5	+	51	3624	c.3580G>T	c.(3580-3582)Gac>Tac	p.D1194Y	PLB1_ENST00000422425.2_Splice_Site_p.D1183Y|PLB1_ENST00000541605.1_Splice_Site_p.D159Y	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1194	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCCCTCAGGACATCAACCT	0.547																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e50-1		phospholipase B1							124	105	111					2																	28849295		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28849295G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3580-1G>T	2.37:g.28849295G>T						PLB1_ENST00000327757.5_Splice_Site_p.D1194_splice|PLB1_ENST00000541605.1_Splice_Site_p.D159_splice	p.D1183_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			50	3591	+	Acute lymphoblastic leukemia(172;0.155)		1194			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37	c.3546_splice	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964975	0.53507	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.15372	2.43;2.43;2.43	5.48	1.65	0.23941	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.593899	0.17524	N	0.171149	T	0.19248	0.0462	N	0.24115	0.695	0.29330	N	0.866772	D;D	0.62365	0.966;0.991	P;P	0.60541	0.627;0.876	T	0.09015	-1.0694	9	.	.	.	-5.1346	7.0461	0.25046	0.3801:0.0:0.6199:0.0	.	1183;1194	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	Y	1194;1183;159	ENSP00000330442:D1194Y;ENSP00000416440:D1183Y;ENSP00000437426:D159Y	.	D	+	1	0	PLB1	28702799	0.999000	0.42202	0.989000	0.46669	0.685000	0.39939	0.871000	0.28023	0.026000	0.15269	0.561000	0.74099	GAC		0.547	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Missense_Mutation	33	246	1	0	3.11337e-16	1	3.29509e-16	33	246					T	28849295	G	T	28849295	5	4	69	1	0	0	0	0	0	0	1	0	12066	1188	41	3	3815	3	PLB1	2	28849295	Splice_Site	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		28849295	214350078	18	8494											
EML4	27436	broad.mit.edu	37	chr2	42511790	42511790	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttagccttgctatacatcctGacaaaattaggattgcaact	6	9	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:42511790G>T	ENST00000318522.5	+	9	1220	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	EML4_ENST00000402711.2_Missense_Mutation_p.D262Y|EML4_ENST00000401738.3_Missense_Mutation_p.D331Y	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	320					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TATACATCCTGACAAAATTAG	0.378			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(958-960)Gac>Tac		echinoderm microtubule associated protein like 4							166	155	158					2																	42511790		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42511790G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.958G>T	2.37:g.42511790G>T	ENSP00000320663:p.Asp320Tyr					EML4_ENST00000401738.3_Missense_Mutation_p.D331Y|EML4_ENST00000402711.2_Missense_Mutation_p.D262Y	p.D320Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			9	1220	+			320					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.958G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366057	0.82463	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57107	0.42;0.42;0.42	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.80634	-0.1295	10	0.87932	D	0	-12.2515	17.8854	0.88852	0.0:0.0:1.0:0.0	.	262;320	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Y	320;262;331	ENSP00000320663:D320Y;ENSP00000385059:D262Y;ENSP00000384939:D331Y	ENSP00000320663:D320Y	D	+	1	0	EML4	42365294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.393000	0.97256	2.282000	0.76494	0.484000	0.47621	GAC		0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		43	274	1	0	1.23103e-26	1	1.34474e-26	43	274					T	42511790	G	T	42511790	3	4	69	1	0	0	0	0	1	0	0	0	5117	1290	45	3	992	3	EML4	2	42511790	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13662495	42511790	200687583	19	8495											
BCL11A	53335	broad.mit.edu	37	chr2	60688255	60688255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccattaacagtgccatcgtCtatgcggtccgactcgccgg	11	14	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:60688255C>A	ENST00000335712.6	-	4	2019	c.1792G>T	c.(1792-1794)Gac>Tac	p.D598Y	BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	598					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCCATCGTCTATGCGGTCC	0.697			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1792-1794)Gac>Tac		B-cell CLL/lymphoma 11A (zinc finger protein)							20	24	23					2																	60688255		2184	4277	6461	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688255C>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1792G>T	2.37:g.60688255C>A	ENSP00000338774:p.Asp598Tyr					BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	p.D598Y	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2019	-			598					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1792G>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952165	0.34471	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.33;3.2;3.32;3.27	6.01	6.01	0.97437	.	0.234402	0.42172	D	0.000755	T	0.17662	0.0424	L	0.40543	1.245	0.58432	D	0.999994	P;P;P;P;P	0.50710	0.923;0.894;0.763;0.938;0.895	B;B;P;B;P	0.47430	0.442;0.367;0.447;0.328;0.547	T	0.00055	-1.2179	10	0.62326	D	0.03	-3.9852	20.5211	0.99222	0.0:1.0:0.0:0.0	.	564;267;564;598;598	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	Y	598;623;564;267;598;564	ENSP00000349300:D598Y;ENSP00000438303:D564Y;ENSP00000443712:D267Y;ENSP00000338774:D598Y;ENSP00000351307:D564Y	ENSP00000338774:D598Y	D	-	1	0	BCL11A	60541759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	2.861000	0.98227	0.650000	0.86243	GAC		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		34	188	1	0	2.09667e-21	1	2.24525e-21	34	188					A	60688255	C	A	60688255	3	1	69	1	0	0	0	0	1	0	0	0	1364	913	32	3	825	3	BCL11A	2	60688255	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	18176465	60688255	182511118	20	8496											
ZNF514	84874	broad.mit.edu	37	chr2	95815575	95815575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcgctgatggcgcctaaGttctgactggaagtgaaagg	13	8	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:95815575G>T	ENST00000295208.2	-	5	1117	c.655C>A	c.(655-657)Ctt>Att	p.L219I	ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	219					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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGGCGCCTAAGTTCTGACTGG	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(655-657)Ctt>Att		zinc finger protein 514							125	132	129					2																	95815575		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815575G>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.655C>A	2.37:g.95815575G>T	ENSP00000295208:p.Leu219Ile					ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I	p.L219I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			5	1117	-			219					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.655C>A	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829490	0.50845	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	T;T	0.53857	0.6;0.6	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74176	0.3682	M	0.89478	3.035	0.23577	N	0.997371	B;D	0.53462	0.227;0.96	P;D	0.64506	0.493;0.926	T	0.64360	-0.6426	9	0.87932	D	0	.	12.6058	0.56523	0.0:0.0:1.0:0.0	.	219;38	Q96K75;Q658L7	ZN514_HUMAN;.	I	219;219;4	ENSP00000295208:L219I;ENSP00000405509:L219I	ENSP00000295208:L219I	L	-	1	0	ZNF514	95179302	0.924000	0.31332	0.977000	0.42913	0.771000	0.43674	2.436000	0.44819	2.065000	0.61736	0.655000	0.94253	CTT		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		26	783	1	0	4.06085e-26	1	4.4182e-26	26	783					T	95815575	G	T	95815575	3	4	69	1	0	0	0	0	1	0	0	0	18012	1029	36	3	551	3	ZNF514	2	95815575	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	35127320	95815575	147383798	21	8497											
EDAR	10913	broad.mit.edu	37	chr2	109524464	109524464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcattctcggatgagGcatcgttctcgctgcaaaaa	10	11	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109524464G>A	ENST00000258443.2	-	10	1245	c.815C>T	c.(814-816)gCc>gTc	p.A272V	EDAR_ENST00000409271.1_Missense_Mutation_p.A304V|EDAR_ENST00000376651.1_Missense_Mutation_p.A304V	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	272					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCGGATGAGGCATCGTTCTC	0.607																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(910-912)gCc>gTc		ectodysplasin A receptor							30	30	30					2																	109524464		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109524464G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.815C>T	2.37:g.109524464G>A	ENSP00000258443:p.Ala272Val					EDAR_ENST00000376651.1_Missense_Mutation_p.A304V|EDAR_ENST00000258443.2_Missense_Mutation_p.A272V	p.A304V			Q9UNE0	EDAR_HUMAN			10	1354	-			272					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.911C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077967	0.76528	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94828	-3.53;-3.32;-3.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.985	D	0.97373	0.9977	10	0.72032	D	0.01	-31.1079	19.7084	0.96083	0.0:0.0:1.0:0.0	.	304;272	E9PC98;Q9UNE0	.;EDAR_HUMAN	V	304;272;304	ENSP00000386371:A304V;ENSP00000258443:A272V;ENSP00000365839:A304V	ENSP00000258443:A272V	A	-	2	0	EDAR	108890896	1.000000	0.71417	0.938000	0.37757	0.188000	0.23474	9.110000	0.94302	2.648000	0.89879	0.561000	0.74099	GCC		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			25	173	0	0	0	1	0	25	173					A	109524464	G	A	109524464	3	1	69	1	0	0	0	0	1	0	0	0	4921	1203	42	2	543	2	EDAR	2	109524464	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13708889	109524464	133674909	22	8498											
ZRANB3	84083	broad.mit.edu	37	chr2	135988368	135988368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgcagctgtttttgTagggtctgatgacactacag	10	8	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:135988368T>C	ENST00000264159.6	-	13	1785	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000401392.1_Missense_Mutation_p.T557A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	557					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GCTGTTTTTGTAGGGTCTGAT	0.413																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1669-1671)Aca>Gca		zinc finger, RAN-binding domain containing 3							148	142	144					2																	135988368		1890	4117	6007	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988368T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1669A>G	2.37:g.135988368T>C	ENSP00000264159:p.Thr557Ala					ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.T557A|ZRANB3_ENST00000412849.1_5'UTR	p.T557A			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1881	-			557					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1669A>G	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	2.144	-0.396008	0.04899	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90563	-2.69;-2.69;-2.67	5.5	0.8	0.18672	.	1.127580	0.06294	N	0.699719	T	0.81049	0.4742	N	0.24115	0.695	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.17979	0.014;0.02	T	0.64162	-0.6472	10	0.09843	T	0.71	-1.9716	5.2144	0.15334	0.0:0.4531:0.1793:0.3676	.	557;557	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	22;22;557;557;557	ENSP00000383979:T557A;ENSP00000264159:T557A;ENSP00000441320:T557A	ENSP00000264159:T557A	T	-	1	0	ZRANB3	135704838	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.242000	0.08928	0.121000	0.18284	-0.371000	0.07208	ACA		0.413	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		33	415	0	0	0	1	0	33	415					C	135988368	T	C	135988368	3	2	69	1	0	0	0	0	1	0	0	0	18277	1638	57	4	1606	4	ZRANB3	2	135988368	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	26463904	135988368	107211005	23	8499											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959733	143959733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaggaatcattcacagCatatcttgaaagatgtcatt	7	7	4	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:143959733C>T	ENST00000295095.6	+	3	363	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.H66Y	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	66					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCATTCACAGCATATCTTGAA	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(196-198)Cat>Tat		Rho GTPase activating protein 15							120	120	120					2																	143959733		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959733C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.196C>T	2.37:g.143959733C>T	ENSP00000295095:p.His66Tyr					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H66Y	p.H66Y			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	373	+			66					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.196C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600439	0.66332	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08102	3.13	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.34521	1.04	0.41455	D	0.988008	D;B	0.76494	0.999;0.355	D;B	0.83275	0.996;0.046	T	0.09487	-1.0672	10	0.10636	T	0.68	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	66;66	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	66	ENSP00000295095:H66Y	ENSP00000295095:H66Y	H	+	1	0	ARHGAP15	143676203	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.000000	0.63940	2.646000	0.89796	0.585000	0.79938	CAT		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		66	306	0	0	0	1	0	66	306					T	143959733	C	T	143959733	3	4	69	1	0	0	0	0	1	0	0	0	866	710	25	2	202	2	ARHGAP15	2	143959733	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	7971365	143959733	99239640	24	8500											
MYO3B	140469	broad.mit.edu	37	chr2	171323216	171323216	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcctttttgaagaatttgtGaaaaggtcagaccgtcatct	8	7	3	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:171323216G>C	ENST00000408978.4	+	25	3152	c.3009G>C	c.(3007-3009)gtG>gtC	p.V1003V	MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000334231.6_Silent_p.V1012V|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1003	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGAATTTGTGAAAAGGTCAG	0.532																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(3034-3036)gtG>gtC		myosin IIIB							61	61	61					2																	171323216		1934	4154	6088	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171323216G>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3009G>C	2.37:g.171323216G>C						MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000408978.4_Silent_p.V1003V	p.V1012V			Q8WXR4	MYO3B_HUMAN			25	3036	+			1003			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3036G>C	CCDS42773.1																																																																																				0.532	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			59	385	0	0	0	1	0	59	385					C	171323216	G	C	171323216	2	2	69	1	0	0	0	0	0	0	0	1	10118	1277	45	5		5	MYO3B	2	171323216	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	27363483	171323216	71876157	25	8501											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116	104	108					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	339						7	339	---	---	---	---	-	191161629	T	-	191161629	7	5	69	1	0	1	0	1	0	0	0	0	7130	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-HZ-7918-01A-11D-2154-08	19838413	191161629	52037744	26	8502											
C3orf31	132001	broad.mit.edu	37	chr3	11851103	11851103	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgatttatctgttgctgtaaGgttttgggcaatgtcatcag	11	5	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:11851103G>C	ENST00000444133.2	-	6	904	c.762C>G	c.(760-762)acC>acG	p.T254T	TAMM41_ENST00000455809.1_Silent_p.T254T|TAMM41_ENST00000273037.5_Silent_p.T254T			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	254					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										GTTGCTGTAAGGTTTTGGGCA	0.418																																						ENST00000444133.2																			0											c.(760-762)acC>acG		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							149	143	145					3																	11851103		2203	4300	6503	SO:0001819	synonymous_variant	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11851103G>C		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"chromosome 3 open reading frame 31"	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.762C>G	3.37:g.11851103G>C						TAMM41_ENST00000273037.5_Silent_p.T254T|TAMM41_ENST00000455809.1_Silent_p.T254T	p.T254T			Q96BW9	MMP37_HUMAN			6	904	-			254					B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37	c.762C>G																																																																																					0.418	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		39	457	0	0	0	1	0	39	457					C	11851103	G	C	11851103	2	2	69	1	0	0	0	0	0	0	0	1	2228	987	35	5		5	C3orf31	3	11851103	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		11851103	186171327	27	8503											
NEK10	152110	broad.mit.edu	37	chr3	27297832	27297832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgagtttactgtttTcttgtttttgctttgccagg	11	6	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27297832T>C	ENST00000429845.2	-	24	2407	c.2045A>G	c.(2044-2046)gAa>gGa	p.E682G	NEK10_ENST00000341435.5_Missense_Mutation_p.E682G|NEK10_ENST00000357467.2_Missense_Mutation_p.E79G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTACTGTTTTCTTGTTTTTG	0.358																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2044-2046)gAa>gGa		NIMA-related kinase 10							122	117	119					3																	27297832		2202	4300	6502	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27297832T>C	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2045A>G	3.37:g.27297832T>C	ENSP00000395849:p.Glu682Gly					NEK10_ENST00000357467.2_Missense_Mutation_p.E79G|NEK10_ENST00000341435.5_Missense_Mutation_p.E682G	p.E682G			Q6ZWH5	NEK10_HUMAN			24	2407	-			682			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.2045A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.852640|2.852640	0.51270|0.51270	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435|ENST00000424275	T;T|.	0.66638|.	-0.22;-0.22|.	4.96|4.96	4.96|4.96	0.65561|0.65561	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|T	0.58061|0.58061	0.2096|0.2096	L|L	0.41961|0.41961	1.31|1.31	0.39166|0.39166	D|D	0.962504|0.962504	B;B|.	0.26635|.	0.155;0.042|.	B;B|.	0.18871|.	0.022;0.023|.	T|T	0.58707|0.58707	-0.7589|-0.7589	9|5	0.48119|.	T|.	0.1|.	.|.	12.4529|12.4529	0.55686|0.55686	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	682;79|.	Q6ZWH5;Q8N774|.	NEK10_HUMAN;.|.	G|E	79;682|169	ENSP00000350059:E79G;ENSP00000343847:E682G|.	ENSP00000343847:E682G|.	E|K	-|-	2|1	0|0	NEK10|NEK10	27272836|27272836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.508000|5.508000	0.67006|0.67006	1.984000|1.984000	0.57885|0.57885	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		12	117	0	0	0	1	0	12	117					C	27297832	T	C	27297832	3	2	69	1	0	0	0	0	1	0	0	0	10364	1783	62	4	101	4	NEK10	3	27297832	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	15446729	27297832	170724598	28	8504											
EOMES	8320	broad.mit.edu	37	chr3	27759190	27759190	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taaagtgttgacaaagggctCcgggaagaaggattgaacgc	14	6	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27759190C>A	ENST00000295743.4	-	6	1635	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*|EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*			O95936	EOMES_HUMAN	eomesodermin	478					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACAAAGGGCTCCGGGAAGAAG	0.527																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1432-1434)Gag>Tag		eomesodermin							79	84	82					3																	27759190		2203	4300	6503	SO:0001587	stop_gained	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759190C>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1432G>T	3.37:g.27759190C>A	ENSP00000295743:p.Glu478*					EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*	p.E478*			O95936	EOMES_HUMAN			6	1635	-			478					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Nonsense_Mutation	SNP	ENST00000295743.4	37	c.1432G>T	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	38	7.132100	0.98085	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	5.1	5.1	0.69264	.	1.323980	0.04968	N	0.463351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4135	0.94685	0.0:1.0:0.0:0.0	.	.	.	.	X	478;497;202;362	.	ENSP00000295743:E478X	E	-	1	0	EOMES	27734194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.769000	0.95229	0.655000	0.94253	GAG		0.527	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		40	435	1	0	1.96642e-18	1	2.09751e-18	40	435					A	27759190	C	A	27759190	4	1	69	1	0	0	0	0	0	1	0	0	5165	864	30	3	632	3	EOMES	3	27759190	Nonsense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	461358	27759190	170263240	29	8505											
LARS2	23395	broad.mit.edu	37	chr3	45533136	45533136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggcagcggtactgggGcacaccaatccccattgtcc	10	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:45533136G>A	ENST00000415258.1	+	12	1508	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	LARS2_ENST00000265537.3_Missense_Mutation_p.G456D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.G413D			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	456					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CGGTACTGGGGCACACCAATC	0.582																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1366-1368)gGc>gAc		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						113	108	109					3																	45533136		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45533136G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1367G>A	3.37:g.45533136G>A	ENSP00000408576:p.Gly456Asp					LARS2_ENST00000414984.1_Missense_Mutation_p.G413D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.G456D	p.G456D			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1508	+			456						Missense_Mutation	SNP	ENST00000415258.1	37	c.1367G>A	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618477	0.87359	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	D;D;D	0.97114	-4.25;-4.25;-4.25	5.88	4.99	0.66335	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.050320	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98237	1.0486	10	0.87932	D	0	-32.9792	16.2532	0.82497	0.0:0.0:0.8663:0.1337	.	413;456	E9PHM2;Q15031	.;SYLM_HUMAN	D	456;456;413	ENSP00000265537:G456D;ENSP00000408576:G456D;ENSP00000412893:G413D	ENSP00000265537:G456D	G	+	2	0	LARS2	45508140	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.460000	0.97641	1.446000	0.47643	0.561000	0.74099	GGC		0.582	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		65	298	0	0	0	1	0	65	298					A	45533136	G	A	45533136	3	1	69	1	0	0	0	0	1	0	0	0	8666	1203	42	2	1409	2	LARS2	3	45533136	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	17773946	45533136	152489294	30	8506											
C3orf37	56941	broad.mit.edu	37	chr3	129020839	129020839	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcagtttctaaatggcttGactttggtgaagtctcaact	10	7	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:129020839G>C	ENST00000383463.4	+	6	771	c.682G>C	c.(682-684)Gac>Cac	p.D228H	HMCES_ENST00000417226.2_Missense_Mutation_p.D186H|HMCES_ENST00000502878.2_Missense_Mutation_p.D228H|HMCES_ENST00000389735.3_Missense_Mutation_p.D228H	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	228							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TAAATGGCTTGACTTTGGTGA	0.463																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(682-684)Gac>Cac									122	127	126					3																	129020839		2203	4300	6503	SO:0001583	missense	0							g.chr3:129020839G>C	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.682G>C	3.37:g.129020839G>C	ENSP00000372955:p.Asp228His					C3orf37_ENST00000389735.3_Missense_Mutation_p.D228H|C3orf37_ENST00000502878.2_Missense_Mutation_p.D228H|C3orf37_ENST00000417226.2_Missense_Mutation_p.D186H	p.D228H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			6	771	+			228					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.682G>C	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287703	0.59976	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	5.2	1.37	0.22104	.	0.140572	0.64402	D	0.000007	T	0.78266	0.4256	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.72338	0.977;0.947	T	0.76919	-0.2781	9	0.62326	D	0.03	-16.3914	9.1141	0.36746	0.3126:0.0:0.6874:0.0	.	186;228	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	180;228;186;138;228;228;228;138	.	ENSP00000372955:D228H	D	+	1	0	C3orf37	130503529	1.000000	0.71417	0.326000	0.25389	0.982000	0.71751	3.284000	0.51708	0.035000	0.15519	0.591000	0.81541	GAC		0.463	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		86	455	0	0	0	1	0	86	455					C	129020839	G	C	129020839	3	2	69	1	0	0	0	0	1	0	0	0	2234	1290	45	5	700	5	C3orf37	3	129020839	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	83487703	129020839	69001591	31	8507											
SLITRK3	22865	broad.mit.edu	37	chr3	164908435	164908435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgtaaatcctttactgtCacaatgtatatgaaagaggc	7	6	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:164908435C>T	ENST00000475390.1	-	2	627	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	62					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTACTGTCACAATGTATA	0.373										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(184-186)Gac>Aac		SLIT and NTRK-like family, member 3							98	101	100					3																	164908435		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908435C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.184G>A	3.37:g.164908435C>T	ENSP00000420091:p.Asp62Asn	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N	p.D62N			O94933	SLIK3_HUMAN			2	627	-			62					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.184G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325014	0.81580	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.83506	0.67;0.67;-1.73	6.11	6.11	0.99139	.	0.000000	0.40064	N	0.001194	D	0.87474	0.6186	L	0.29908	0.895	0.58432	D	0.999998	D	0.63880	0.993	D	0.74674	0.984	D	0.87135	0.2199	10	0.56958	D	0.05	-26.058	20.7342	0.99715	0.0:1.0:0.0:0.0	.	62	O94933	SLIK3_HUMAN	N	62	ENSP00000420091:D62N;ENSP00000241274:D62N;ENSP00000419611:D62N	ENSP00000241274:D62N	D	-	1	0	SLITRK3	166391129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAC		0.373	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		61	505	0	0	0	1	0	61	505					T	164908435	C	T	164908435	3	4	69	1	0	0	0	0	1	0	0	0	14794	826	29	2	2753	2	SLITRK3	3	164908435	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	35887596	164908435	33113995	32	8508											
CLCN2	1181	broad.mit.edu	37	chr3	184079221	184079221	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagggtctgctcgtacTgcagcgcccgtggctccatc	11	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:184079221T>G	ENST00000265593.4	-	1	218	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	POLR2H_ENST00000452961.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|POLR2H_ENST00000430783.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|POLR2H_ENST00000429568.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCTCGTACTGCAGCGCCCG	0.706																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(46-48)cAg>cCg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						57	60	59					3																	184079221		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079221T>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.47A>C	3.37:g.184079221T>G	ENSP00000265593:p.Gln16Pro					CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR	p.Q16P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	218	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		16					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.47A>C	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.254718	0.22965	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	3.81	3.81	0.43845	.	0.245968	0.25741	N	0.028603	T	0.78027	0.4219	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.25105	0.046;0.072;0.072;0.118;0.072	B;B;B;B;B	0.28232	0.026;0.054;0.087;0.079;0.054	T	0.74748	-0.3560	10	0.44086	T	0.13	-14.9975	9.2202	0.37373	0.0:0.0:0.0:1.0	.	16;16;16;16;16	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	16	ENSP00000265593:Q16P;ENSP00000345056:Q16P;ENSP00000400425:Q16P;ENSP00000391928:Q16P	ENSP00000265593:Q16P	Q	-	2	0	CLCN2	185561915	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	2.573000	0.46007	1.742000	0.51746	0.370000	0.22315	CAG		0.706	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			44	298	0	0	0	1	0	44	298					G	184079221	T	G	184079221	3	3	69	1	0	0	0	0	1	0	0	0	3472	1580	55	4	2745	4	CLCN2	3	184079221	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	19170786	184079221	13943209	33	8509											
CC2D2A	57545	broad.mit.edu	37	chr4	15572024	15572024	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccacccttcctttaggatGaccgtgaaagaggaagtgga	11	10	0	3	rs371998498		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:15572024G>T	ENST00000503292.1	+	29	3679	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1167	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCTTTAGGATGACCGTGAAAG	0.408																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(3499-3501)Gac>Tac		coiled-coil and C2 domain containing 2A							69	63	64					4																	15572024		1865	4113	5978	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15572024G>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3499G>T	4.37:g.15572024G>T	ENSP00000421809:p.Asp1167Tyr					CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y	p.D1167Y			Q9P2K1	C2D2A_HUMAN			28	3753	+			1167			C2.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.3499G>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820380	0.71028	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.85861	-2.0;-2.0;-2.0;-2.04	5.65	4.81	0.61882	C2 calcium-dependent membrane targeting (1);	0.108853	0.64402	D	0.000008	D	0.90235	0.6947	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89006	0.3425	10	0.36615	T	0.2	.	11.7426	0.51801	0.1419:0.0:0.8581:0.0	.	1167;1118	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Y	1167;1167;1118;1118;1167;1118	ENSP00000403465:D1167Y;ENSP00000398391:D1167Y;ENSP00000421809:D1167Y;ENSP00000374303:D1118Y	ENSP00000374303:D1118Y	D	+	1	0	CC2D2A	15181122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.179000	0.71974	1.390000	0.46547	0.561000	0.74099	GAC		0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		10	42	1	0	1.58986e-06	1	1.62573e-06	10	42					T	15572024	G	T	15572024	3	4	69	1	0	0	0	0	1	0	0	0	2735	1290	45	3	3808	3	CC2D2A	4	15572024	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		15572024	175582252	34	8510											
COMMD8	54951	broad.mit.edu	37	chr4	47462175	47462175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttacctcttcatcaggtaAgtttttaccaactatggctt	6	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:47462175A>C	ENST00000381571.4	-	2	275	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	70										large_intestine(2)|lung(5)|prostate(1)	8						TCATCAGGTAAGTTTTTACCA	0.343																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(208-210)Tta>Gta		COMM domain containing 8							102	106	105					4																	47462175		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47462175A>C	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.208T>G	4.37:g.47462175A>C	ENSP00000370984:p.Leu70Val						p.L70V	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			2	275	-			70					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.208T>G	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	A	1.293	-0.606993	0.03717	.	.	ENSG00000169019	ENST00000381571	T	0.09163	3.01	5.48	-0.28	0.12886	.	0.649849	0.15783	N	0.244813	T	0.03827	0.0108	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.41980	-0.9478	10	0.02654	T	1	-13.9887	1.6707	0.02811	0.3234:0.3696:0.1699:0.137	.	70	Q9NX08	COMD8_HUMAN	V	70	ENSP00000370984:L70V	ENSP00000370984:L70V	L	-	1	2	COMMD8	47156932	0.001000	0.12720	0.986000	0.45419	0.274000	0.26718	-0.138000	0.10374	0.352000	0.24053	-0.346000	0.07831	TTA		0.343	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		58	397	0	0	0	1	0	58	397					C	47462175	A	C	47462175	3	2	69	1	0	0	0	0	1	0	0	0	3731	69	3	4	359	4	COMMD8	4	47462175	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	31890151	47462175	143692101	35	8511											
FRYL	285527	broad.mit.edu	37	chr4	48605373	48605373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcatctccacaaaatttttCaaacagggaacattcacttc	4	11	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:48605373C>G	ENST00000503238.1	-	9	866	c.867G>C	c.(865-867)ttG>ttC	p.L289F	FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L289F			O94915	FRYL_HUMAN	FRY-like	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(865-867)ttG>ttC		FRY-like							67	63	64					4																	48605373		1811	4058	5869	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48605373C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.867G>C	4.37:g.48605373C>G	ENSP00000426064:p.Leu289Phe					FRYL_ENST00000503238.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000358350.4_Missense_Mutation_p.L289F	p.L289F			O94915	FRYL_HUMAN			12	1471	-			289					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.867G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730434	0.89390	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.16	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.53938	U	0.000057	T	0.81711	0.4880	M	0.71581	2.175	0.80722	D	1	D;P	0.69078	0.997;0.943	D;P	0.79108	0.992;0.874	T	0.80795	-0.1223	10	0.45353	T	0.12	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	289;289	F2Z2S2;O94915	.;FRYL_HUMAN	F	289	ENSP00000426064:L289F;ENSP00000351113:L289F;ENSP00000441114:L289F;ENSP00000421584:L289F	ENSP00000351113:L289F	L	-	3	2	FRYL	48300130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	2.628000	0.89032	0.655000	0.94253	TTG		0.289	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			46	318	0	0	0	1	0	46	318					G	48605373	C	G	48605373	3	3	69	1	0	0	0	0	1	0	0	0	6091	825	29	5	8386	5	FRYL	4	48605373	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	1143198	48605373	142548903	36	8512											
FAT4	79633	broad.mit.edu	37	chr4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-													ggcacacttttctaattgggAaaaatggaacagcaacagta							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:126408614delA	ENST00000394329.3	+	16	12944	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4311	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTAATTGGGAAAAATGGAAC	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12931-12933)aafs		FAT atypical cadherin 4							82	83	83					4																	126408614		2203	4300	6503	SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408614delA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12931delA	4.37:g.126408614delA	ENSP00000377862:p.Lys4311fs					FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	p.K4311fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			16	12944	+			4311			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	c.12931delA	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	677						8	677	---	---	---	---	-	126408614	A	-	126408614	7	5	69	1	0	1	0	1	0	0	0	0	5717	247	9	0	12993	0	FAT4	4	126408614	Frame_Shift_Del	DEL	A	TCGA-HZ-7918-01A-11D-2154-08	77803241	126408614	64745662	37	8513											
PLK4	10733	broad.mit.edu	37	chr4	128804674	128804674	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatgaacaggtatctAaagaatagagtgaaaccctt	10	5	1	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:128804674A>G	ENST00000270861.5	+	4	577	c.303A>G	c.(301-303)ctA>ctG	p.L101L	PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000507249.1_Silent_p.L101L|PLK4_ENST00000515069.1_Silent_p.L101L|PLK4_ENST00000514379.1_Silent_p.L60L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTATCTAAAGAATAGAG	0.323																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(301-303)ctA>ctG		polo-like kinase 4							60	65	63					4																	128804674		2201	4294	6495	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128804674A>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.303A>G	4.37:g.128804674A>G						PLK4_ENST00000507249.1_Silent_p.L101L|PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000514379.1_Silent_p.L60L|PLK4_ENST00000515069.1_Silent_p.L101L	p.L101L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			4	577	+			101			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.303A>G	CCDS3735.1																																																																																				0.323	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			86	257	0	0	0	1	0	86	257					G	128804674	A	G	128804674	2	3	69	1	0	0	0	0	0	0	0	1	12140	349	13	4		4	PLK4	4	128804674	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	2396060	128804674	62349602	38	8514											
PET112L	5188	broad.mit.edu	37	chr4	152638043	152638043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctacctgccctgttcaaatCaatgagcgtctgagacctca	7	14	4	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:152638043C>T	ENST00000515812.1	-	4	641	c.625G>A	c.(625-627)Gat>Aat	p.D209N	PET112_ENST00000263985.6_Missense_Mutation_p.D209N|PET112_ENST00000512306.1_Missense_Mutation_p.D209N																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CTGTTCAAATCAATGAGCGTC	0.493																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(625-627)Gat>Aat		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						152	131	138					4																	152638043		2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152638043C>T																												ENST00000515812.1:c.625G>A	4.37:g.152638043C>T	ENSP00000426859:p.Asp209Asn					PET112_ENST00000515812.1_Missense_Mutation_p.D209N|PET112_ENST00000512306.1_Missense_Mutation_p.D209N	p.D209N	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			4	665	-			209						Missense_Mutation	SNP	ENST00000515812.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.158723	0.94686	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.66638	-0.07;-0.22;0.22	6.08	6.08	0.98989	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87023	0.2130	10	0.87932	D	0	-23.3706	20.6647	0.99678	0.0:1.0:0.0:0.0	.	209;209	D6RDU9;O75879	.;GATB_HUMAN	N	209	ENSP00000263985:D209N;ENSP00000426859:D209N;ENSP00000420831:D209N	ENSP00000263985:D209N	D	-	1	0	PET112	152857493	1.000000	0.71417	0.909000	0.35828	0.866000	0.49608	7.544000	0.82117	2.890000	0.99128	0.655000	0.94253	GAT		0.493	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			58	462	0	0	0	1	0	58	462					T	152638043	C	T	152638043	3	4	69	1	0	0	0	0	1	0	0	0	11776	826	29	2	1088	2	PET112L	4	152638043	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	23833369	152638043	38516233	39	8515											
FBXW7	55294	broad.mit.edu	37	chr4	153332931	153332931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcgtcgtcttttgctgcCcacagagagcagttcctgat	10	11	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:153332931C>T	ENST00000281708.4	-	2	1254	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	9					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTTGCTGCCCACAGAGAGC	0.483			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(25-27)Ggc>Agc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							63	55	57					4																	153332931		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332931C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.25G>A	4.37:g.153332931C>T	ENSP00000281708:p.Gly9Ser					FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S	p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1254	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	9					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.25G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332824	0.81801	.	.	ENSG00000109670	ENST00000281708	T	0.66995	-0.24	5.67	5.67	0.87782	.	0.073729	0.52532	D	0.000071	T	0.71896	0.3394	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.66256	-0.5969	10	0.18276	T	0.48	-5.609	19.7677	0.96349	0.0:1.0:0.0:0.0	.	9;9	G0Z2K0;Q969H0	.;FBXW7_HUMAN	S	9	ENSP00000281708:G9S	ENSP00000281708:G9S	G	-	1	0	FBXW7	153552381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.668000	0.90789	0.650000	0.86243	GGC		0.483	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			37	171	0	0	0	1	0	37	171					T	153332931	C	T	153332931	3	4	69	1	0	0	0	0	1	0	0	0	5794	623	22	2	2558	2	FBXW7	4	153332931	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	694888	153332931	37821345	40	8516											
TRIML1	339976	broad.mit.edu	37	chr4	189065010	189065010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggaagtgagaggagccctgGaaaggtaggctttcattctg	15	6	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:189065010G>C	ENST00000332517.3	+	4	894	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	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	252					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		AGGAGCCCTGGAAAGGTAGGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				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						c.(754-756)Gaa>Caa		tripartite motif family-like 1							226	224	225					4																	189065010		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065010G>C	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.754G>C	4.37:g.189065010G>C	ENSP00000327738:p.Glu252Gln					TRIML1_ENST00000507581.1_3'UTR	p.E252Q	NM_178556.3	NP_848651.2	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)	4	894	+		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)	252					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.754G>C	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797499	0.31777	.	.	ENSG00000184108	ENST00000332517	T	0.04862	3.54	5.82	3.75	0.43078	.	0.347035	0.25112	N	0.033041	T	0.05686	0.0149	L	0.55017	1.72	0.26449	N	0.975649	P	0.35433	0.501	B	0.30495	0.116	T	0.28870	-1.0030	10	0.17832	T	0.49	-15.7788	6.591	0.22646	0.2351:0.0:0.7649:0.0	.	252	Q8N9V2	TRIML_HUMAN	Q	252	ENSP00000327738:E252Q	ENSP00000327738:E252Q	E	+	1	0	TRIML1	189302004	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.020000	0.30027	1.614000	0.50241	0.639000	0.83563	GAA		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		155	741	0	0	0	1	0	155	741					C	189065010	G	C	189065010	3	2	69	1	0	0	0	0	1	0	0	0	16603	1175	41	5	768	5	TRIML1	4	189065010	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	35732079	189065010	2089266	41	8517											
PDE8B	8622	broad.mit.edu	37	chr5	76507011	76507011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttccgcagcccccgccgcGaccaccagcaggggccggag	15	18	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:76507011G>A	ENST00000264917.5	+	1	306	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PDE8B_ENST00000333194.4_Silent_p.A87A|PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	87					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCCCCGCCGCGACCACCAGCA	0.751																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(259-261)gcG>gcA		phosphodiesterase 8B							3	3	3					5																	76507011		1136	2730	3866	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76507011G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.261G>A	5.37:g.76507011G>A						PDE8B_ENST00000333194.4_Silent_p.A87A|PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A	p.A87A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	1	306	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	87					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.261G>A	CCDS4037.1																																																																																				0.751	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		7	10	0	0	0	1	0	7	10					A	76507011	G	A	76507011	2	1	69	1	0	0	0	0	0	0	0	1	11696	1045	37	1		1	PDE8B	5	76507011	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		76507011	104408249	42	8518											
SNX24	28966	broad.mit.edu	37	chr5	122272452	122272452	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttaagatagaagtgctaatGaatggaagaaaacattttgt	9	2	0	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:122272452G>C	ENST00000261369.4	+	2	269	c.84G>C	c.(82-84)atG>atC	p.M28I	SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	28	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AAGTGCTAATGAATGGAAGAA	0.313																																						ENST00000261369.4																			0				lung(5)	5						c.(82-84)atG>atC		sorting nexin 24							108	101	103					5																	122272452		2203	4299	6502	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122272452G>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.84G>C	5.37:g.122272452G>C	ENSP00000261369:p.Met28Ile					SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I|SNX24_ENST00000511211.1_3'UTR	p.M28I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	269	+		Prostate(80;0.0387)	28			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.84G>C	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082045	0.36758	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.69	5.69	0.88448	Phox homologous domain (5);	0.103032	0.85682	D	0.000000	T	0.25082	0.0609	N	0.11284	0.12	0.53688	D	0.99997	B;B	0.19073	0.033;0.005	B;B	0.17098	0.017;0.015	T	0.09122	-1.0689	10	0.19590	T	0.45	-12.9133	14.3626	0.66782	0.0706:0.0:0.9294:0.0	.	28;28	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	I	28;28;61;28	ENSP00000261369:M28I;ENSP00000424149:M28I;ENSP00000378837:M61I;ENSP00000422535:M28I	ENSP00000261369:M28I	M	+	3	0	SNX24	122300351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.323000	0.72891	2.840000	0.97914	0.655000	0.94253	ATG		0.313	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		49	172	0	0	0	1	0	49	172					C	122272452	G	C	122272452	3	2	69	1	0	0	0	0	1	0	0	0	14945	1290	45	5	90	5	SNX24	5	122272452	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	45765441	122272452	58642808	43	8519											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		13	539						13	539	---	---	---	---	-	149216459	GGA	-	149216457	7	5	69	1	0	1	0	1	0	0	0	0	12343	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-HZ-7918-01A-11D-2154-08	26944005	149216457	31698803	44	8520											
KIF4B	285643	broad.mit.edu	37	chr5	154395716	154395716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaaacgccatctgaatgAcctccttgaagacagaaaga	8	11	1	6			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:154395716A>C	ENST00000435029.4	+	1	2457	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	766	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCTGAATGACCTCCTTGAA	0.458																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2296-2298)gAc>gCc		kinesin family member 4B							76	74	75					5																	154395716		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395716A>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2297A>C	5.37:g.154395716A>C	ENSP00000387875:p.Asp766Ala						p.D766A	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2457	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	766			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2297A>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	14.79	2.641957	0.47153	.	.	ENSG00000226650	ENST00000435029	T	0.68181	-0.31	2.14	2.14	0.27477	.	.	.	.	.	T	0.55226	0.1907	L	0.55481	1.735	0.49915	D	0.999833	B	0.22909	0.077	B	0.23275	0.045	T	0.42999	-0.9418	9	0.15952	T	0.53	.	8.1524	0.31148	1.0:0.0:0.0:0.0	.	766	Q2VIQ3	KIF4B_HUMAN	A	766	ENSP00000387875:D766A	ENSP00000387875:D766A	D	+	2	0	KIF4B	154375909	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	3.984000	0.56923	0.939000	0.37446	0.460000	0.39030	GAC		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			41	255	0	0	0	1	0	41	255					C	154395716	A	C	154395716	3	2	69	1	0	0	0	0	1	0	0	0	8334	275	10	4	2299	4	KIF4B	5	154395716	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	5179259	154395716	26519544	45	8521											
FLT4	2324	broad.mit.edu	37	chr5	180056837	180056837	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatagagctcgttgccTgttgacacgcacacagtgac	10	11	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:180056837T>A	ENST00000261937.6	-	6	755		c.e6-2		FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4						blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGTTGCCTGTTGACACGC	0.607																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e6-2		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						80	70	74					5																	180056837		2200	4296	6496	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056837T>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.677-2A>T	5.37:g.180056837T>A						FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	6	755	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)						A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37		CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422002	0.62622	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8506	0.70295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT4	179989443	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.474000	0.81024	1.976000	0.57569	0.459000	0.35465	.		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Intron	70	93	0	0	0	1	0	70	93					A	180056837	T	A	180056837	5	1	69	1	0	0	0	0	0	0	1	0	5969	1594	55	5	3524	5	FLT4	5	180056837	Splice_Site	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	25661121	180056837	858423	46	8522											
SERPINB1	1992	broad.mit.edu	37	chr6	2838132	2838132	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccttctgtctgtcctttGacccactggtttatggtctt	7	12	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:2838132G>A	ENST00000380739.5	-	4	610	c.408C>T	c.(406-408)gtC>gtT	p.V136V	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	136					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTGTCCTTTGACCCACTGGT	0.488																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(406-408)gtC>gtT		serpin peptidase inhibitor, clade B (ovalbumin), member 1							337	303	314					6																	2838132		2203	4300	6503	SO:0001819	synonymous_variant	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2838132G>A	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.408C>T	6.37:g.2838132G>A						SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	p.V136V			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	4	610	-	Ovarian(93;0.0412)		136					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	ENST00000380739.5	37	c.408C>T	CCDS4477.1																																																																																				0.488	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			90	936	0	0	0	1	0	90	936					A	2838132	G	A	2838132	2	1	69	1	0	0	0	0	0	0	0	1	14146	1277	45	2		2	SERPINB1	6	2838132	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2838132	168276935	47	8523											
SCGN	10590	broad.mit.edu	37	chr6	25670278	25670278	+	Nonsense_Mutation	SNP	A	A	T													aaaaggccatttctgaggctAaactggaagaatacactggc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670278A>T	ENST00000377961.2	+	6	613	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTGAGGCTAAACTGGAAGA	0.463																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(445-447)Aaa>Taa		secretagogin, EF-hand calcium binding protein							137	140	139					6																	25670278		2203	4300	6503	SO:0001587	stop_gained	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670278A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.445A>T	6.37:g.25670278A>T	ENSP00000367197:p.Lys149*					SCGN_ENST00000334979.6_3'UTR	p.K149*	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	613	+			149			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Nonsense_Mutation	SNP	ENST00000377961.2	37	c.445A>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	38	6.687892	0.97764	.	.	ENSG00000079689	ENST00000377961	.	.	.	5.6	4.45	0.53987	.	0.042749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8856	0.41260	0.9171:0.0:0.0829:0.0	.	.	.	.	X	149	.	ENSP00000367197:K149X	K	+	1	0	SCGN	25778257	1.000000	0.71417	0.760000	0.31359	0.974000	0.67602	4.953000	0.63624	0.958000	0.37956	0.460000	0.39030	AAA		0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			101	544	0	0	0	1	0	101	544					T	25670278	A	T	25670278	4	4	69	1	0	0	0	0	0	1	0	0	13953	363	13	5	467	5	SCGN	6	25670278	Nonsense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	22832146	25670278	145444789	48	8524	57	2									
SCGN	10590	broad.mit.edu	37	chr6	25670281	25670281	+	Missense_Mutation	SNP	C	C	A													aggccatttctgaggctaaaCtggaagaatacactggcacc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670281C>A	ENST00000377961.2	+	6	616	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGGCTAAACTGGAAGAATA	0.463																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(448-450)Ctg>Atg		secretagogin, EF-hand calcium binding protein							136	138	137					6																	25670281		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670281C>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.448C>A	6.37:g.25670281C>A	ENSP00000367197:p.Leu150Met					SCGN_ENST00000334979.6_3'UTR	p.L150M	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	616	+			150			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.448C>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356514	0.82243	.	.	ENSG00000079689	ENST00000377961	T	0.72615	-0.67	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83576	0.0115	10	0.72032	D	0.01	.	18.3956	0.90497	0.0:1.0:0.0:0.0	.	150	O76038	SEGN_HUMAN	M	150	ENSP00000367197:L150M	ENSP00000367197:L150M	L	+	1	2	SCGN	25778260	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.209000	0.42806	2.618000	0.88619	0.563000	0.77884	CTG		0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			97	533	1	0	2.44874e-31	1	2.70755e-31	97	533					A	25670281	C	A	25670281	3	1	69	1	0	0	0	0	1	0	0	0	13953	564	20	3	470	3	SCGN	6	25670281	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3	25670281	145444786	49	8525	57	2									
TNXB	7148	broad.mit.edu	37	chr6	32020759	32020759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctgtgggggcgggagtttCttcctctgcagctgagaaga	15	8	3	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:32020759C>G	ENST00000375244.3	-	26	9004	c.8803G>C	c.(8803-8805)Gaa>Caa	p.E2935Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q			P22105	TENX_HUMAN	tenascin XB	2980	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGGGAGTTTCTTCCTCTGCA	0.637																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8803-8805)Gaa>Caa		tenascin XB							32	39	36					6																	32020759		1225	2527	3752	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020759C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8803G>C	6.37:g.32020759C>G	ENSP00000364393:p.Glu2935Gln					TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q	p.E2935Q			P22105	TENX_HUMAN			26	9004	-			2980			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8803G>C		.	.	.	.	.	.	.	.	.	.	c	15.55	2.867263	0.51588	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58652	0.55;0.32	4.61	3.74	0.42951	.	0.168845	0.27896	N	0.017419	T	0.53706	0.1813	L	0.59967	1.855	0.23089	N	0.99831	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.22706	T	0.39	.	9.9562	0.41668	0.0:0.9014:0.0:0.0986	.	2933	P22105-3	.	Q	2935;2933	ENSP00000364393:E2935Q;ENSP00000364396:E2933Q	ENSP00000364393:E2935Q	E	-	1	0	TNXB	32128737	0.007000	0.16637	0.989000	0.46669	0.628000	0.37860	1.759000	0.38420	0.916000	0.36871	0.591000	0.81541	GAA		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		47	209	0	0	0	1	0	47	209					G	32020759	C	G	32020759	3	3	69	1	0	0	0	0	1	0	0	0	16398	922	32	5	5992	5	TNXB	6	32020759	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	6350478	32020759	139094308	50	8526											
ZNF318	24149	broad.mit.edu	37	chr6	43305986	43305986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattctctagcccctcctcaCtaacaactgaaactccttgc	3	16	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:43305986C>A	ENST00000361428.2	-	10	5827	c.5750G>T	c.(5749-5751)aGt>aTt	p.S1917I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1917					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTCCTCACTAACAACTGA	0.438																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5749-5751)aGt>aTt		zinc finger protein 318							96	97	97					6																	43305986		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305986C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5750G>T	6.37:g.43305986C>A	ENSP00000354964:p.Ser1917Ile					ZNF318_ENST00000318149.3_Intron	p.S1917I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5827	-			1917					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5750G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932489	0.18131	.	.	ENSG00000171467	ENST00000361428	T	0.12984	2.63	4.96	0.819	0.18785	.	0.554792	0.17839	N	0.160277	T	0.02119	0.0066	N	0.24115	0.695	0.19775	N	0.999955	P	0.36837	0.571	B	0.34385	0.181	T	0.39210	-0.9625	10	0.56958	D	0.05	-0.9562	1.1873	0.01858	0.1517:0.4198:0.1482:0.2803	.	1917	Q5VUA4	ZN318_HUMAN	I	1917	ENSP00000354964:S1917I	ENSP00000354964:S1917I	S	-	2	0	ZNF318	43413964	0.000000	0.05858	0.826000	0.32828	0.342000	0.28953	-0.130000	0.10498	0.257000	0.21650	0.644000	0.83932	AGT		0.438	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		75	509	1	0	3.66258e-25	1	3.96901e-25	75	509					A	43305986	C	A	43305986	3	1	69	1	0	0	0	0	1	0	0	0	17889	565	20	3	1093	3	ZNF318	6	43305986	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	11285227	43305986	127809081	51	8527											
MCM3	4172	broad.mit.edu	37	chr6	52146932	52146932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcttagtagcaggacAgtagtggacactgcggacga	14	8	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52146932A>G	ENST00000229854.7	-	4	518	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R	MCM3_ENST00000476448.1_5'Flank|MCM3_ENST00000596288.1_Missense_Mutation_p.C193R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	148					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTAGCAGGACAGTAGTGGACA	0.488																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(577-579)Tgt>Cgt		minichromosome maintenance complex component 3							162	142	149					6																	52146932		2203	4300	6503	SO:0001583	missense	4172				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52146932A>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.442T>C	6.37:g.52146932A>G	ENSP00000229854:p.Cys148Arg					MCM3_ENST00000229854.7_Missense_Mutation_p.C148R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R	p.C193R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			4	604	-	Lung NSC(77;0.0931)		148					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.577T>C		.	.	.	.	.	.	.	.	.	.	A	19.72	3.879725	0.72294	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.20200	2.09;2.09	5.69	5.69	0.88448	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	T	0.67902	-0.5550	10	0.87932	D	0	-9.9587	15.9495	0.79823	1.0:0.0:0.0:0.0	.	102;148	B4DUQ9;P25205	.;MCM3_HUMAN	R	148;102	ENSP00000229854:C148R;ENSP00000388647:C102R	ENSP00000229854:C148R	C	-	1	0	MCM3	52254891	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	9.242000	0.95408	2.173000	0.68751	0.460000	0.39030	TGT		0.488	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			69	465	0	0	0	1	0	69	465					G	52146932	A	G	52146932	3	3	69	1	0	0	0	0	1	0	0	0	9428	188	7	4	2040	4	MCM3	6	52146932	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	8840946	52146932	118968135	52	8528											
GCM1	8521	broad.mit.edu	37	chr6	52996784	52996811	+	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	-													tcagtaatgaaactctcacgTaactaactcaaaaatccaac					rs374003490		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	ENST00000259803.7	-	4	646_653	c.435_442delTTTCCAGGTTGGATTTTTGAGTTAGTTA	c.(433-444)tttttccaggtt>tttt	p.FQV146fs		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	146					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC	0.518																																						ENST00000259803.7																			1	Unknown(1)	p.?(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.e4+1		glial cells missing homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.441+1TTTCCAGGTTGGATTTTTGAGTTAGTTA>-	6.37:g.52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA							p.F145_splice	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			4	646_653	-	Lung NSC(77;0.0755)		145					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Splice_Site	DEL	ENST00000259803.7	37	c.441_splice	CCDS4950.1																																																																																				0.518	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		Frame_Shift_Del	8	161						8	161	---	---	---	---	-	52996811	TAACTAACTCAAAAATCCAACCTGGAAA	-	52996784	8	5	69	1	0	1	0	1	0	0	1	0	6325	1653	57	0		0	GCM1	6	52996784	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TCGA-HZ-7918-01A-11D-2154-08	849852	52996784	118118283	53	8529											
TBX18	9096	broad.mit.edu	37	chr6	85457659	85457659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgattctgataggcagtGacggttgtgaagacagtttc	13	6	1	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:85457659G>A	ENST00000369663.5	-	5	1255	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V148V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(916-918)gtC>gtT		T-box 18							112	95	101					6																	85457659		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457659G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.918C>T	6.37:g.85457659G>A						TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	p.V306V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	1255	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	306					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.918C>T	CCDS34495.1																																																																																				0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		30	190	0	0	0	1	0	30	190					A	85457659	G	A	85457659	2	1	69	1	0	0	0	0	0	0	0	1	15705	1277	45	2		2	TBX18	6	85457659	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	32460875	85457659	85657408	54	8530											
RBM16	22828	broad.mit.edu	37	chr6	155123170	155123170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccttccattctgcaggcCctagatgctggtcttgttgt	10	12	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:155123170C>T	ENST00000367178.3	+	7	1248	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SCAF8_ENST00000417268.1_Silent_p.A224A|SCAF8_ENST00000367186.4_Silent_p.A290A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	224	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGCAGGCCCTAGATGCTG	0.443																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(670-672)gcC>gcT		SR-related CTD-associated factor 8							82	83	83					6																	155123170		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155123170C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.672C>T	6.37:g.155123170C>T						SCAF8_ENST00000367186.4_Silent_p.A290A|SCAF8_ENST00000417268.1_Silent_p.A224A	p.A224A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			7	1248	+			224			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.672C>T	CCDS5247.1																																																																																				0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		81	276	0	0	0	1	0	81	276					T	155123170	C	T	155123170	2	4	69	1	0	0	0	0	0	0	0	1	13168	610	22	2		2	RBM16	6	155123170	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	69665511	155123170	15991897	55	8531											
IGF2R	3482	broad.mit.edu	37	chr6	160492963	160492963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actccaggcccatgttcatcAgcgccgtggaggactgtgag	13	12	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:160492963A>C	ENST00000356956.1	+	32	4613	c.4465A>C	c.(4465-4467)Agc>Cgc	p.S1489R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1489				S -> N (in Ref. 2; AAA59866). {ECO:0000305}.	insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CATGTTCATCAGCGCCGTGGA	0.517																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4465-4467)Agc>Cgc		insulin-like growth factor 2 receptor							192	164	173					6																	160492963		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160492963A>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4465A>C	6.37:g.160492963A>C	ENSP00000349437:p.Ser1489Arg						p.S1489R	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	32	4613	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1489	S -> N (in Ref. 2; AAA59866).				Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4465A>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005983	0.74932	.	.	ENSG00000197081	ENST00000356956	T	0.02050	4.48	5.36	5.36	0.76844	Mannose-6-phosphate receptor, binding (1);	0.279013	0.41605	D	0.000852	T	0.05135	0.0137	M	0.67625	2.065	0.46586	D	0.999118	D	0.71674	0.998	D	0.72338	0.977	T	0.28933	-1.0028	10	0.45353	T	0.12	-6.113	10.2898	0.43588	0.8527:0.0:0.0:0.1473	.	1489	P11717	MPRI_HUMAN	R	1489	ENSP00000349437:S1489R	ENSP00000349437:S1489R	S	+	1	0	IGF2R	160412953	1.000000	0.71417	0.977000	0.42913	0.905000	0.53344	5.343000	0.65976	2.024000	0.59613	0.533000	0.62120	AGC		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	589	0	0	0	1	0	24	589					C	160492963	A	C	160492963	3	2	69	1	0	0	0	0	1	0	0	0	7606	188	7	4	4591	4	IGF2R	6	160492963	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	5369793	160492963	10622104	56	8532											
GLI3	2737	broad.mit.edu	37	chr7	42012195	42012195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtctgtgtaacgcttaGtgcagcctgggattttgcac	13	8	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:42012195G>C	ENST00000395925.3	-	13	1928	c.1844C>G	c.(1843-1845)aCt>aGt	p.T615S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	615					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTAACGCTTAGTGCAGCCTGG	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1843-1845)aCt>aGt		GLI family zinc finger 3							76	74	74					7																	42012195		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42012195G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1844C>G	7.37:g.42012195G>C	ENSP00000379258:p.Thr615Ser					GLI3_ENST00000479210.1_5'UTR	p.T615S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			13	1928	-			615					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1844C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015304	0.93404	.	.	ENSG00000106571	ENST00000395925	T	0.50277	0.75	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.10760	0.04	0.80722	D	1	B	0.32893	0.389	P	0.45071	0.468	T	0.52510	-0.8566	10	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	615	P10071	GLI3_HUMAN	S	615	ENSP00000379258:T615S	ENSP00000379258:T615S	T	-	2	0	GLI3	41978720	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	ACT		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		40	226	0	0	0	1	0	40	226					C	42012195	G	C	42012195	3	2	69	1	0	0	0	0	1	0	0	0	6468	1029	36	5	2910	5	GLI3	7	42012195	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		42012195	117126468	57	8533											
ABCB1	5243	broad.mit.edu	37	chr7	87178760	87178760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttgcgaaccagggcAcgtgcaatggcgatcctctg	15	10	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:87178760A>G	ENST00000265724.3	-	15	2046	c.1629T>C	c.(1627-1629)cgT>cgC	p.R543R	ABCB1_ENST00000543898.1_Silent_p.R479R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	543	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	GAACCAGGGCACGTGCAATGG	0.547																																						ENST00000265724.3																			0				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						c.(1627-1629)cgT>cgC		ATP-binding cassette, sub-family B (MDR/TAP), 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)						134	113	121					7																	87178760		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:87178760A>G	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.1629T>C	7.37:g.87178760A>G						ABCB1_ENST00000543898.1_Silent_p.R479R	p.R543R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			15	2046	-	Esophageal squamous(14;0.00164)		543			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.1629T>C	CCDS5608.1																																																																																				0.547	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		76	392	0	0	0	1	0	76	392					G	87178760	A	G	87178760	2	3	69	1	0	0	0	0	0	0	0	1	40	146	6	4		4	ABCB1	7	87178760	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	45166565	87178760	71959903	58	8534											
SLC25A13	10165	broad.mit.edu	37	chr7	95818665	95818665	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagaggagcaatccGttcaatgtctgctaaggtca	9	11	4	1	rs142308242		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:95818665G>T	ENST00000265631.5	-	9	1010	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	SLC25A13_ENST00000416240.2_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	292					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGAGCAATCCGTTCAATGTCT	0.408																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(874-876)Cgg>Agg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94	92	93					7																	95818665		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818665G>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.874C>A	7.37:g.95818665G>T						SLC25A13_ENST00000265631.5_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R	p.R292R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1064	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		292					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.874C>A	CCDS5645.1																																																																																				0.408	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		31	148	1	0	9.17885e-22	1	9.86817e-22	31	148					T	95818665	G	T	95818665	2	4	69	1	0	0	0	0	0	0	0	1	14525	1144	40	3		3	SLC25A13	7	95818665	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8639905	95818665	63319998	59	8535											
FAM180A	389558	broad.mit.edu	37	chr7	135418815	135418815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcgcccagatgtccttctGatggccgtgggacagggctg	15	12	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:135418815G>C	ENST00000338588.3	-	3	695	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	144						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGTCCTTCTGATGGCCGTGG	0.607																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(430-432)Cag>Gag		family with sequence similarity 180, member A							107	91	96					7																	135418815		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418815G>C	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.430C>G	7.37:g.135418815G>C	ENSP00000342336:p.Gln144Glu					FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E	p.Q144E	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	695	-			144					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.430C>G	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458856	0.84317	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	5.65	0.86999	.	0.053099	0.85682	D	0.000000	T	0.53642	0.1809	M	0.72894	2.215	0.53688	D	0.999978	D	0.67145	0.996	D	0.76071	0.987	T	0.42015	-0.9476	10	0.19147	T	0.46	-11.6415	17.225	0.86967	0.0:0.0:1.0:0.0	.	144	Q6UWF9	F180A_HUMAN	E	144	ENSP00000342336:Q144E;ENSP00000395467:Q144E	ENSP00000342336:Q144E	Q	-	1	0	FAM180A	135069355	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	8.517000	0.90555	2.677000	0.91161	0.561000	0.74099	CAG		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		39	281	0	0	0	1	0	39	281					C	135418815	G	C	135418815	3	2	69	1	0	0	0	0	1	0	0	0	5528	1299	45	5	95	5	FAM180A	7	135418815	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	39600150	135418815	23719848	60	8536											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864416	22864416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagttctggaagtccCacctccgcaatgtgcagcgg	11	14	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:22864416C>G	ENST00000251822.6	+	5	1195	c.658C>G	c.(658-660)Cac>Gac	p.H220D	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	220					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGGAAGTCCCACCTCCGCAA	0.652																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(658-660)Cac>Gac		Rho-related BTB domain containing 2							92	90	91					8																	22864416		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864416C>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.658C>G	8.37:g.22864416C>G	ENSP00000251822:p.His220Asp					RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D|RP11-875O11.1_ENST00000523884.1_RNA	p.H220D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1195	+		Prostate(55;0.0513)|Breast(100;0.214)	220					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.658C>G	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052210	0.75960	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09538	2.97;2.98;2.98	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.03394	-1.1041	10	0.72032	D	0.01	.	17.1413	0.86754	0.0:1.0:0.0:0.0	.	227;220;242	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	D	242;227;220	ENSP00000427926:H242D;ENSP00000429141:H227D;ENSP00000251822:H220D	ENSP00000251822:H220D	H	+	1	0	RHOBTB2	22920361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.368000	0.80403	0.563000	0.77884	CAC		0.652	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			82	529	0	0	0	1	0	82	529					G	22864416	C	G	22864416	3	3	69	1	0	0	0	0	1	0	0	0	13384	594	21	5	757	5	RHOBTB2	8	22864416	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		22864416	123499606	61	8537											
MYST3	7994	broad.mit.edu	37	chr8	41834718	41834718	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	attgctatctctgcagaagtCcaagccatctatccgctcta	6	13	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:41834718C>G	ENST00000396930.3	-	8	1714	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H|KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	391	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGCAGAAGTCCAAGCCATCT	0.453																																						ENST00000396930.3																			0											c.(1171-1173)Gac>Cac		K(lysine) acetyltransferase 6A							129	117	121					8																	41834718		2203	4299	6502	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834718C>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1171G>C	8.37:g.41834718C>G	ENSP00000380136:p.Asp391His					KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H|KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H	p.D391H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			8	1714	-			391			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1171G>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056858	0.36277	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84370	0.21;0.21;0.21;-1.84	5.37	5.37	0.77165	.	0.152609	0.44902	D	0.000402	D	0.82811	0.5118	N	0.24115	0.695	0.29750	N	0.836435	P;D	0.58620	0.641;0.983	B;P	0.49708	0.125;0.62	T	0.80084	-0.1530	10	0.42905	T	0.14	-12.106	19.1648	0.93551	0.0:1.0:0.0:0.0	.	391;391	A5PLL3;Q92794	.;KAT6A_HUMAN	H	391	ENSP00000265713:D391H;ENSP00000385888:D391H;ENSP00000380136:D391H;ENSP00000430606:D391H	ENSP00000265713:D391H	D	-	1	0	KAT6A	41953875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.550000	0.53691	2.505000	0.84491	0.650000	0.86243	GAC		0.453	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		47	491	0	0	0	1	0	47	491					G	41834718	C	G	41834718	3	3	69	1	0	0	0	0	1	0	0	0	10145	855	30	5	4887	5	MYST3	8	41834718	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	18970302	41834718	104529304	62	8538											
PRKDC	5591	broad.mit.edu	37	chr8	48744458	48744458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcataaaccgtctgcgcaGtcgtagtaggtccgtccggc	11	14	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:48744458G>A	ENST00000314191.2	-	61	8235	c.8179C>T	c.(8179-8181)Ctg>Ttg	p.L2727L	PRKDC_ENST00000338368.3_Silent_p.L2727L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2728	KIP-binding.				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)			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)	CGTCTGCGCAGTCGTAGTAGG	0.552								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(8179-8181)Ctg>Ttg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							173	178	177					8																	48744458		1980	4165	6145	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744458G>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.8179C>T	8.37:g.48744458G>A						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2727L	p.L2727L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			61	8235	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2728			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.8179C>T																																																																																					0.552	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		142	774	0	0	0	1	0	142	774					A	48744458	G	A	48744458	2	1	69	1	0	0	0	0	0	0	0	1	12568	1020	36	2		2	PRKDC	8	48744458	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	6909740	48744458	97619564	63	8539											
CSPP1	79848	broad.mit.edu	37	chr8	68062034	68062034	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgatttgaataggatGcacagacaaaatatagatgc	9	6	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:68062034G>C	ENST00000262210.5	+	16	2008	c.1977G>C	c.(1975-1977)atG>atC	p.M659I	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	694					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAATAGGATGCACAGACAAA	0.328																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1975-1977)atG>atC		centrosome and spindle pole associated protein 1							197	191	193					8																	68062034		1834	4086	5920	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68062034G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1977G>C	8.37:g.68062034G>C	ENSP00000262210:p.Met659Ile					CSPP1_ENST00000412460.1_Intron	p.M659I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	2008	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	694					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1977G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428415	0.83667	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75821	-0.97	5.96	5.96	0.96718	.	0.000000	0.53938	U	0.000057	D	0.83193	0.5201	L	0.43152	1.355	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.75484	0.986;0.986;0.986	T	0.83223	-0.0067	10	0.66056	D	0.02	-10.4183	20.0142	0.97474	0.0:0.0:1.0:0.0	.	659;694;694	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	I	659;694	ENSP00000262210:M659I	ENSP00000262210:M659I	M	+	3	0	CSPP1	68224588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.094000	0.76944	2.831000	0.97527	0.650000	0.86243	ATG		0.328	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		111	851	0	0	0	1	0	111	851					C	68062034	G	C	68062034	3	2	69	1	0	0	0	0	1	0	0	0	3973	1319	46	5	2152	5	CSPP1	8	68062034	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	19317576	68062034	78301988	64	8540											
PTDSS1	9791	broad.mit.edu	37	chr8	97311970	97311970	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgccgagtgctggtgggatCaagtcattctggacatcctg	13	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:97311970C>G	ENST00000517309.1	+	6	975	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	217					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGGTGGGATCAAGTCATTCT	0.493																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(649-651)Caa>Gaa		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						232	207	216					8																	97311970		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97311970C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.649C>G	8.37:g.97311970C>G	ENSP00000430548:p.Gln217Glu					PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E	p.Q217E	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			6	975	+	Breast(36;6.18e-05)		217					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.649C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783092	0.90282	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.43294	0.98;0.98;0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.54323	1.7	0.80722	D	1	P	0.46621	0.881	P	0.52710	0.707	T	0.45614	-0.9249	10	0.38643	T	0.18	-13.9545	17.8705	0.88810	0.0:1.0:0.0:0.0	.	217	P48651	PTSS1_HUMAN	E	217;71;14	ENSP00000430548:Q217E;ENSP00000401248:Q71E;ENSP00000430928:Q14E	ENSP00000401248:Q71E	Q	+	1	0	PTDSS1	97381146	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.818000	0.86416	2.648000	0.89879	0.650000	0.86243	CAA		0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			64	841	0	0	0	1	0	64	841					G	97311970	C	G	97311970	3	3	69	1	0	0	0	0	1	0	0	0	12783	827	29	5	671	5	PTDSS1	8	97311970	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	29249936	97311970	49052052	65	8541											
VPS13B	157680	broad.mit.edu	37	chr8	100155279	100155279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagtccaccaaaagcCttgttataggtcctcttgat	9	9	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:100155279C>G	ENST00000358544.2	+	13	1840	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V	VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000395996.1_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	577					protein transport (GO:0015031)					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)			CACCAAAAGCCTTGTTATAGG	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(1729-1731)Ctt>Gtt		vacuolar protein sorting 13 homolog B (yeast)							122	119	120					8																	100155279		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100155279C>G	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.1729C>G	8.37:g.100155279C>G	ENSP00000351346:p.Leu577Val					VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V|VPS13B_ENST00000358544.2_Missense_Mutation_p.L577V	p.L577V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		13	1840	+	Breast(36;3.73e-07)		577					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1729C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.122042	0.20877	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.76709	-1.04;-0.33;-0.33;-0.03	5.43	5.43	0.79202	.	0.097761	0.44285	D	0.000464	T	0.65729	0.2719	L	0.27053	0.805	0.44085	D	0.996848	P;P;P;P;P	0.40211	0.565;0.707;0.583;0.565;0.565	B;B;B;B;B	0.37888	0.26;0.26;0.133;0.26;0.26	T	0.64149	-0.6475	10	0.20046	T	0.44	.	14.9991	0.71459	0.1513:0.8487:0.0:0.0	.	577;577;577;577;577	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	577	ENSP00000347281:L577V;ENSP00000349685:L577V;ENSP00000351346:L577V;ENSP00000379318:L577V	ENSP00000347281:L577V	L	+	1	0	VPS13B	100224455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.304000	0.43655	2.531000	0.85337	0.591000	0.81541	CTT		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		143	335	0	0	0	1	0	143	335					G	100155279	C	G	100155279	3	3	69	1	0	0	0	0	1	0	0	0	17244	681	24	5	1817	5	VPS13B	8	100155279	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2843309	100155279	46208743	66	8542											
ZHX1	11244	broad.mit.edu	37	chr8	124267697	124267697	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgtagattctgcttgctCtgcattctcctctttaacaa	5	11	5	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124267697C>T	ENST00000522655.1	-	3	1030	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ZHX1_ENST00000395571.3_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	164					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGCTTGCTCTGCATTCTCC	0.323																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(490-492)Gag>Aag		zinc fingers and homeoboxes 1							106	105	105					8																	124267697		2201	4300	6501	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267697C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.490G>A	8.37:g.124267697C>T	ENSP00000428821:p.Glu164Lys					ZHX1_ENST00000522655.1_Missense_Mutation_p.E164K|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.E164K	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1107	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		164					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.490G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492037	0.26774	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.55234	0.53;0.53;0.53	5.51	5.51	0.81932	.	0.252609	0.31989	N	0.006746	T	0.51244	0.1663	.	.	.	0.46499	D	0.99907	B	0.23058	0.079	B	0.21917	0.037	T	0.49716	-0.8910	9	0.66056	D	0.02	-15.5127	19.4207	0.94720	0.0:1.0:0.0:0.0	.	164	Q9UKY1	ZHX1_HUMAN	K	164	ENSP00000297857:E164K;ENSP00000378938:E164K;ENSP00000428821:E164K	ENSP00000297857:E164K	E	-	1	0	ZHX1	124336878	0.999000	0.42202	0.940000	0.37924	0.155000	0.21991	5.457000	0.66672	2.581000	0.87130	0.555000	0.69702	GAG		0.323	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			29	636	0	0	0	1	0	29	636					T	124267697	C	T	124267697	3	4	69	1	0	0	0	0	1	0	0	0	17728	922	32	2	2135	2	ZHX1	8	124267697	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	24112418	124267697	22096325	67	8543											
KLHL38	340359	broad.mit.edu	37	chr8	124664765	124664792	+	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-													ctgatcatacccaggcagttGctgggggccaactggctctg					rs200378303|rs7387544|rs372636699	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENST00000325995.7	-	1	398_425	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	c.(373-402)tcgtacttgcagagccagttggcccccagcfs	p.SYLQSQLAPS125fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	125								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG	0.575																																						ENST00000325995.7																			1	Substitution - Missense(1)	p.S134R(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(373-402)tcfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	8.37:g.124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENSP00000321475:p.Ser125fs					CTD-2552K11.2_ENST00000524355.1_RNA	p.SYLQSQLAPS125fs	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	398_425	-			125					A0PK12	Frame_Shift_Del	DEL	ENST00000325995.7	37	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	CCDS43766.1																																																																																				0.575	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			15	279						15	279	---	---	---	---	-	124664792	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	124664765	7	5	69	1	0	1	0	1	0	0	0	0	8420	1310	46	0	1355	0	KLHL38	8	124664765	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	TCGA-HZ-7918-01A-11D-2154-08	397068	124664765	21699257	68	8544											
LRRC6	23639	broad.mit.edu	37	chr8	133595976	133595976	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctcctgtccgaggtAgttttcatagatttgaatgc	9	9	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:133595976A>T	ENST00000519595.1	-	11	1289	c.1191T>A	c.(1189-1191)acT>acA	p.T397T	LRRC6_ENST00000250173.1_Silent_p.T397T|LRRC6_ENST00000518642.1_Silent_p.T394T			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	397					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCCGAGGTAGTTTTCATAG	0.403																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(1189-1191)acT>acA		leucine rich repeat containing 6							210	180	191					8																	133595976		2203	4300	6503	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133595976A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1191T>A	8.37:g.133595976A>T						LRRC6_ENST00000250173.1_Silent_p.T397T|LRRC6_ENST00000518642.1_Silent_p.T394T	p.T397T			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1289	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		397					Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.1191T>A																																																																																					0.403	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		32	325	0	0	0	1	0	32	325					T	133595976	A	T	133595976	2	4	69	1	0	0	0	0	0	0	0	1	9054	407	15	5		5	LRRC6	8	133595976	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	8931211	133595976	12768046	69	8545											
SLC45A4	57210	broad.mit.edu	37	chr8	142222650	142222650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagttcccggggctgtggtgGatgtactgcaagagaggaaa	17	6	0	1	rs372268272		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:142222650G>C	ENST00000024061.3	-	7	2101	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	SLC45A4_ENST00000519067.1_Missense_Mutation_p.I598M|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTGTGGTGGATGTACTGCA	0.567																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1792-1794)atC>atG		solute carrier family 45, member 4		G	MET/ILE	1,4405	2.1+/-5.4	0,1,2202	43	47	46		1794	-5.7	0.5	8		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A4	NM_001080431.1	10	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	benign	598/799	142222650	2,13004	2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142222650G>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1794C>G	8.37:g.142222650G>C	ENSP00000024061:p.Ile598Met					SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M|SLC45A4_ENST00000024061.3_Missense_Mutation_p.I598M	p.I598M			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2097	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		649					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1794C>G	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649682	0.29336	2.27E-4	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15718	2.42;2.41;2.41;2.4	4.96	-5.67	0.02444	.	0.431121	0.24978	N	0.034084	T	0.15955	0.0384	L	0.40543	1.245	0.37636	D	0.92185	P;P;P	0.52170	0.756;0.951;0.842	B;P;P	0.51516	0.352;0.672;0.554	T	0.09952	-1.0651	10	0.48119	T	0.1	-36.1766	9.3309	0.38021	0.2522:0.4998:0.248:0.0	.	649;598;598	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	598;649;591;598	ENSP00000429059:I598M;ENSP00000428137:I649M;ENSP00000400799:I591M;ENSP00000024061:I598M	ENSP00000024061:I598M	I	-	3	3	SLC45A4	142291832	0.040000	0.19996	0.457000	0.27056	0.275000	0.26752	-0.578000	0.05841	-0.748000	0.04753	-0.245000	0.11935	ATC		0.567	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		11	204	0	0	0	1	0	11	204					C	142222650	G	C	142222650	3	2	69	1	0	0	0	0	1	0	0	0	14693	1164	41	5	610	5	SLC45A4	8	142222650	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8626674	142222650	4141372	70	8546											
TSNARE1	203062	broad.mit.edu	37	chr8	143427196	143427196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggttctgcagcttgctcTctggcgacgggcaggggaaa	16	10	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:143427196T>G	ENST00000307180.3	-	3	263	c.146A>C	c.(145-147)gAg>gCg	p.E49A	TSNARE1_ENST00000524325.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	49					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCTTGCTCTCTGGCGACGG	0.597																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(145-147)gAg>gCg		t-SNARE domain containing 1							123	100	108					8																	143427196		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143427196T>G			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.146A>C	8.37:g.143427196T>G	ENSP00000303437:p.Glu49Ala					TSNARE1_ENST00000307180.3_Missense_Mutation_p.E49A|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron	p.E49A			Q96NA8	TSNA1_HUMAN			3	321	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		49					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.146A>C	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717466	0.30413	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.32988	2.35;2.34;2.35;1.48;1.43	2.62	2.62	0.31277	.	0.250633	0.20123	U	0.098772	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.884	B;B;B	0.40659	0.336;0.336;0.336	T	0.10382	-1.0632	10	0.87932	D	0	-5.9914	7.1523	0.25618	0.0:0.0:0.0:1.0	.	49;49;49	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	A	49;49;49;49;65	ENSP00000428763:E49A;ENSP00000303437:E49A;ENSP00000427770:E49A;ENSP00000429626:E49A;ENSP00000430789:E65A	ENSP00000303437:E49A	E	-	2	0	TSNARE1	143425103	0.539000	0.26402	0.131000	0.22000	0.847000	0.48162	0.972000	0.29409	1.450000	0.47717	0.528000	0.53228	GAG		0.597	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		22	329	0	0	0	1	0	22	329					G	143427196	T	G	143427196	3	3	69	1	0	0	0	0	1	0	0	0	16683	1551	54	4	1439	4	TSNARE1	8	143427196	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	1204546	143427196	2936826	71	8547											
C8orf73	642475	broad.mit.edu	37	chr8	144650380	144650380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgaccaactcctccaGcaggccccagcaaaaggcgt	10	16	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:144650380G>T	ENST00000398882.3	-	11	1952	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	MROH6_ENST00000533679.1_Intron|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000534459.1_De_novo_Start_InFrame	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	566																	AACTCCTCCAGCAGGCCCCAG	0.652																																						ENST00000398882.3																			0											c.(1696-1698)Ctg>Atg		maestro heat-like repeat family member 6							25	28	27					8																	144650380		1952	4143	6095	SO:0001583	missense	642475							g.chr8:144650380G>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1696C>A	8.37:g.144650380G>T	ENSP00000381857:p.Leu566Met					MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000534459.1_De_novo_Start_InFrame	p.L566M	NM_001100878.1	NP_001094348.1					11	1952	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1696C>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344607	0.41498	.	.	ENSG00000204839	ENST00000398882	T	0.52295	0.67	4.82	3.73	0.42828	Armadillo-type fold (1);	.	.	.	.	T	0.56645	0.1999	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53092	-0.8487	9	0.30854	T	0.27	-35.1542	6.1398	0.20253	0.1112:0.0:0.699:0.1898	.	566	A6NGR9	CH073_HUMAN	M	566	ENSP00000381857:L566M	ENSP00000381857:L566M	L	-	1	2	C8orf73	144721523	0.987000	0.35691	1.000000	0.80357	0.480000	0.33159	1.228000	0.32588	2.232000	0.73038	0.448000	0.29417	CTG		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		16	95	1	0	1.00905e-13	1	1.05562e-13	16	95					T	144650380	G	T	144650380	3	4	69	1	0	0	0	0	1	0	0	0	2442	962	34	3	479	3	C8orf73	8	144650380	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1223184	144650380	1713642	72	8548											
SHARPIN	81858	broad.mit.edu	37	chr8	145154701	145154701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccacttgggctgcccccttCtcgtctccacctgcaatagc	8	18	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:145154701C>G	ENST00000398712.2	-	4	1000	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	188	Interaction with SHANK1. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCCCCCTTCTCGTCTCCAC	0.637																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(562-564)gaG>gaC		SHANK-associated RH domain interactor							43	50	48					8																	145154701		2034	4175	6209	SO:0001583	missense	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154701C>G	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.564G>C	8.37:g.145154701C>G	ENSP00000381698:p.Glu188Asp					SHARPIN_ENST00000533948.1_5'UTR	p.E188D	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1000	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188			Interaction with SHANK1 (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	c.564G>C	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518604	0.27211	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.34472	1.78;1.36	4.25	4.25	0.50352	.	0.633863	0.16154	N	0.227113	T	0.35008	0.0917	M	0.67953	2.075	0.09310	N	1	P	0.46395	0.877	B	0.37650	0.255	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.0205	0.53340	0.0:1.0:0.0:0.0	.	188	Q9H0F6	SHRPN_HUMAN	D	188	ENSP00000381698:E188D;ENSP00000352551:E188D	ENSP00000352551:E188D	E	-	3	2	SHARPIN	145226689	0.000000	0.05858	0.022000	0.16811	0.642000	0.38348	-0.083000	0.11286	2.207000	0.71202	0.462000	0.41574	GAG		0.637	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		44	379	0	0	0	1	0	44	379					G	145154701	C	G	145154701	3	3	69	1	0	0	0	0	1	0	0	0	14317	912	32	5	619	5	SHARPIN	8	145154701	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	504321	145154701	1209321	73	8549											
RFX3	5991	broad.mit.edu	37	chr9	3271027	3271027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcggtaatggtagtgccaTcagttggagtagagggagaa	15	4	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:3271027T>C	ENST00000382004.3	-	11	1489	c.1178A>G	c.(1177-1179)gAt>gGt	p.D393G	RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	393					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGTAGTGCCATCAGTTGGAGT	0.368																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1177-1179)gAt>gGt		regulatory factor X, 3 (influences HLA class II expression)							187	168	175					9																	3271027		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3271027T>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1178A>G	9.37:g.3271027T>C	ENSP00000371434:p.Asp393Gly					RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	p.D393G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	11	1489	-			393					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1178A>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.806532	0.50421	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.08102	3.13;3.13;3.13	5.46	5.46	0.80206	.	0.096942	0.64402	D	0.000001	T	0.18173	0.0436	L	0.28400	0.85	0.80722	D	1	D;B;P	0.76494	0.999;0.008;0.57	D;B;B	0.68192	0.956;0.017;0.147	T	0.01397	-1.1365	10	0.46703	T	0.11	-13.5119	15.8559	0.78977	0.0:0.0:0.0:1.0	.	393;393;393	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	G	393	ENSP00000371434:D393G;ENSP00000351574:D393G;ENSP00000303847:D393G	ENSP00000303847:D393G	D	-	2	0	RFX3	3261027	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	7.624000	0.83124	2.211000	0.71520	0.524000	0.50904	GAT		0.368	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		48	362	0	0	0	1	0	48	362					C	3271027	T	C	3271027	3	2	69	1	0	0	0	0	1	0	0	0	13314	1435	50	4	1259	4	RFX3	9	3271027	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		3271027	137942404	74	8550											
TAF1L	138474	broad.mit.edu	37	chr9	32634851	32634851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttcggtgacacttggcaAcagcttggtggcatcatgct	12	9	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:32634851A>G	ENST00000242310.4	-	1	816	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	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	243					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)			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)		ACACTTGGCAACAGCTTGGTG	0.488																																						ENST00000242310.4																			0				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						c.(727-729)Ttg>Ctg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							136	124	128					9																	32634851		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634851A>G	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.727T>C	9.37:g.32634851A>G						RP11-555J4.4_ENST00000430787.1_RNA	p.L243L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	816	-			243					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.727T>C	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			46	523	0	0	0	1	0	46	523					G	32634851	A	G	32634851	2	3	69	1	0	0	0	0	0	0	0	1	15575	40	2	4		4	TAF1L	9	32634851	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	29363824	32634851	108578580	75	8551											
NOL6	65083	broad.mit.edu	37	chr9	33468069	33468069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggatcatgggtttgggagtCatcaacagcaggtggaaccc	14	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33468069C>T	ENST00000379471.2	-	11	1470	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.M409I			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	461					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTTTGGGAGTCATCAACAGCA	0.567																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1381-1383)atG>atA		nucleolar protein 6 (RNA-associated)							125	123	124					9																	33468069		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468069C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1383G>A	9.37:g.33468069C>T	ENSP00000368784:p.Met461Ile					NOL6_ENST00000455041.2_Missense_Mutation_p.M409I|NOL6_ENST00000464829.1_Intron	p.M461I			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	11	1470	-			461					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1383G>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544742	0.86022	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.46	5.46	0.80206	.	0.069975	0.85682	D	0.000000	T	0.49304	0.1549	L	0.49350	1.555	0.80722	D	1	D;D;D;P;D	0.63046	0.992;0.99;0.99;0.532;0.992	D;P;P;B;D	0.63033	0.91;0.853;0.853;0.259;0.91	T	0.27606	-1.0069	10	0.10377	T	0.69	.	17.0911	0.86622	0.0:1.0:0.0:0.0	.	409;458;461;461;461	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	I	461;461;461;17;461;409	ENSP00000313978:M461I;ENSP00000297990:M461I;ENSP00000368784:M461I;ENSP00000395915:M409I	ENSP00000297990:M461I	M	-	3	0	NOL6	33458069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.937000	0.75898	2.575000	0.86900	0.561000	0.74099	ATG		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		29	590	0	0	0	1	0	29	590					T	33468069	C	T	33468069	3	4	69	1	0	0	0	0	1	0	0	0	10567	826	29	2	2121	2	NOL6	9	33468069	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	833218	33468069	107745362	76	8552											
PIGO	84720	broad.mit.edu	37	chr9	35095294	35095294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacaggaggctctctaggcAcgtgtgaatgctggggctgg	17	8	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:35095294A>T	ENST00000378617.3	-	2	663	c.269T>A	c.(268-270)gTg>gAg	p.V90E	PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	90					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTCTAGGCACGTGTGAATG	0.577																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(268-270)gTg>gAg		phosphatidylinositol glycan anchor biosynthesis, class O							118	120	120					9																	35095294		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095294A>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.269T>A	9.37:g.35095294A>T	ENSP00000367880:p.Val90Glu					PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E	p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	663	-			90					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.269T>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	A	6.740	0.505242	0.12822	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.54479	0.58;0.57;0.57;0.58	5.18	-3.57	0.04612	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.152970	0.06125	N	0.669484	T	0.29389	0.0732	N	0.13235	0.315	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.15665	-1.0429	10	0.22109	T	0.4	-30.4467	5.0997	0.14753	0.304:0.4722:0.1382:0.0856	.	90;90	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	E	90	ENSP00000298004:V90E;ENSP00000367880:V90E;ENSP00000339382:V90E;ENSP00000354678:V90E	ENSP00000298004:V90E	V	-	2	0	PIGO	35085294	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.567000	0.05916	-0.401000	0.07644	-0.400000	0.06385	GTG		0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		48	717	0	0	0	1	0	48	717					T	35095294	A	T	35095294	3	4	69	1	0	0	0	0	1	0	0	0	11936	159	6	5	3040	5	PIGO	9	35095294	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	1627225	35095294	106118137	77	8553											
RNF38	152006	broad.mit.edu	37	chr9	36390574	36390574	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcacaaatcaccttgttagGatggccaggtagagatgctg	11	8	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:36390574G>C	ENST00000259605.6	-	2	159	c.52C>G	c.(52-54)Cct>Gct	p.P18A	RNF38_ENST00000357058.3_De_novo_Start_OutOfFrame|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	18					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11								ring finger protein 38							122	120	120					9																	36390574		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36390574G>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.52C>G	9.37:g.36390574G>C	ENSP00000259605:p.Pro18Ala					RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000259605.6_Missense_Mutation_p.P18A|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000350199.4_Intron		NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		0	409	-								A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Translation_Start_Site	SNP	ENST00000259605.6	37		CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931570	0.52866	.	.	ENSG00000137075	ENST00000259605	T	0.13196	2.61	5.73	4.81	0.61882	.	0.311822	0.27258	N	0.020186	T	0.08268	0.0206	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14172	-1.0482	10	0.56958	D	0.05	-3.2253	12.6286	0.56644	0.0:0.1663:0.8337:0.0	.	18	Q9H0F5	RNF38_HUMAN	A	18	ENSP00000259605:P18A	ENSP00000259605:P18A	P	-	1	0	RNF38	36380574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.956000	0.49129	1.371000	0.46172	0.655000	0.94253	CCT		0.488	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		74	488	0	0	0	1	0	74	488					C	36390574	G	C	36390574	3	2	69	1	0	0	0	0	1	0	0	0	13540	1174	41	5	1539	5	RNF38	9	36390574	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1295280	36390574	104822857	78	8554											
TMOD1	7111	broad.mit.edu	37	chr9	100328234	100328234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtaatgaccccgtggcGtatgtatgtacctttctgtt	11	9	1	1	rs142987399		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100328234G>A	ENST00000259365.4	+	7	936	c.723G>A	c.(721-723)gcG>gcA	p.A241A	TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000395211.2_Silent_p.A241A	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	241					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGTGGCGTATGTATGTA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21167	0.0		0.0	False		,,,				2504	0.0					ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(721-723)gcG>gcA		tropomodulin 1		G	,	3,4403	6.2+/-15.9	0,3,2200	187	192	191		723,723	-10.1	0	9	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMOD1	NM_001166116.1,NM_003275.3	,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,	241/360,241/360	100328234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100328234G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.723G>A	9.37:g.100328234G>A						TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000259365.3_Silent_p.A241A	p.A241A	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	7	859	+		Acute lymphoblastic leukemia(62;0.154)	241					B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	c.723G>A	CCDS6726.1																																																																																				0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		59	300	0	0	0	1	0	59	300					A	100328234	G	A	100328234	2	1	69	1	0	0	0	0	0	0	0	1	16285	1132	40	1		1	TMOD1	9	100328234	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	63937660	100328234	40885197	79	8555											
OR1J2	26740	broad.mit.edu	37	chr9	125273681	125273681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagctggtcatgttcAcagtaggggtggtggtcatt	14	6	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:125273681A>G	ENST00000335302.5	+	1	601	c.601A>G	c.(601-603)Aca>Gca	p.T201A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTCATGTTCACAGTAGGGGT	0.517																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(601-603)Aca>Gca		olfactory receptor, family 1, subfamily J, member 2							143	116	125					9																	125273681		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273681A>G		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.601A>G	9.37:g.125273681A>G	ENSP00000335575:p.Thr201Ala						p.T201A	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	601	+			201					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.601A>G	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897443	0.33535	.	.	ENSG00000197233	ENST00000335302	T	0.00051	8.81	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.190676	0.25391	U	0.031011	T	0.00144	0.0004	N	0.20401	0.57	0.09310	N	1	B	0.14438	0.01	B	0.26693	0.072	T	0.44907	-0.9297	10	0.38643	T	0.18	.	13.7117	0.62672	1.0:0.0:0.0:0.0	.	201	Q8NGS2	OR1J2_HUMAN	A	201	ENSP00000335575:T201A	ENSP00000335575:T201A	T	+	1	0	OR1J2	124313502	0.000000	0.05858	0.174000	0.22961	0.009000	0.06853	0.633000	0.24598	2.085000	0.62840	0.529000	0.55759	ACA		0.517	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			74	330	0	0	0	1	0	74	330					G	125273681	A	G	125273681	3	3	69	1	0	0	0	0	1	0	0	0	11002	159	6	4	603	4	OR1J2	9	125273681	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	24945447	125273681	15939750	80	8556											
METTL11A	28989	broad.mit.edu	37	chr9	132395107	132395107	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacatctccagcatcgacaTcaacagctcccggaagtttc	6	16	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132395107T>A	ENST00000372486.1	+	2	474	c.125T>A	c.(124-126)aTc>aAc	p.I42N	NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	42					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGCATCGACATCAACAGCTCC	0.567																																						ENST00000372486.1																			0											c.(124-126)aTc>aAc		N-terminal Xaa-Pro-Lys N-methyltransferase 1							157	140	146					9																	132395107		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132395107T>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.125T>A	9.37:g.132395107T>A	ENSP00000361564:p.Ile42Asn					NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N|NTMT1_ENST00000486391.2_Intron	p.I42N							2	474	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.125T>A	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651900	0.88056	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.15	5.15	0.70609	.	0.190467	0.43919	D	0.000514	T	0.60586	0.2280	M	0.89904	3.07	0.58432	D	0.999998	D;D	0.76494	0.999;0.994	D;D	0.65443	0.935;0.927	T	0.69687	-0.5078	10	0.66056	D	0.02	8.0E-4	13.8086	0.63248	0.0:0.0:0.0:1.0	.	42;42	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	N	42	ENSP00000361564:I42N;ENSP00000361561:I42N;ENSP00000361559:I42N;ENSP00000361558:I42N	ENSP00000361558:I42N	I	+	2	0	METTL11A	131434928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.160000	0.71862	1.954000	0.56735	0.459000	0.35465	ATC		0.567	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		108	569	0	0	0	1	0	108	569					A	132395107	T	A	132395107	3	1	69	1	0	0	0	0	1	0	0	0	9536	1435	50	5	127	5	METTL11A	9	132395107	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	7121426	132395107	8818324	81	8557											
FNBP1	23048	broad.mit.edu	37	chr9	132662705	132662705	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgtgcagatactgtacCtctcacggtcctgggcgcag	13	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132662705C>T	ENST00000446176.2	-	14	1736	c.1550G>A	c.(1549-1551)aGc>aAc	p.S517N	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Splice_Site_p.S488N|FNBP1_ENST00000420781.1_Splice_Site_p.S508N|FNBP1_ENST00000443566.2_Splice_Site_p.S145N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	517	Interaction with PDE6G. {ECO:0000250}.|Interaction with RND2. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GATACTGTACCTCTCACGGTC	0.572			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.e14+1		formin binding protein 1							39	44	42					9																	132662705		2025	4174	6199	SO:0001630	splice_region_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132662705C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1550+1G>A	9.37:g.132662705C>T						FNBP1_ENST00000443566.2_Splice_Site_p.S145_splice|FNBP1_ENST00000446176.2_Splice_Site_p.S517_splice|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Splice_Site_p.S488_splice	p.S508_splice			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	14	1741	-		Ovarian(14;0.000536)	517			Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Splice_Site	SNP	ENST00000446176.2	37	c.1523_splice	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869244|3.869244	0.72065|0.72065	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|0.178639	.|0.64402	.|D	.|0.000015	D|D	0.85026|0.85026	0.5603|0.5603	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D;P;D;D;D	.|0.89917	.|0.997;0.999;0.997;0.967;0.794;1.0;0.979;0.999	.|D;D;D;P;P;D;P;D	.|0.73380	.|0.922;0.978;0.938;0.852;0.618;0.98;0.835;0.942	D|D	0.85688|0.85688	0.1305|0.1305	5|9	.|.	.|.	.|.	-34.4769|-34.4769	16.4132|16.4132	0.83726|0.83726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|512;507;145;451;488;468;512;517	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|N	469|517;517;508;517;145;488	.|ENSP00000413625:S517N;ENSP00000407548:S508N;ENSP00000389117:S145N;ENSP00000347907:S488N	.|.	A|S	-|-	1|2	0|0	FNBP1|FNBP1	131702526|131702526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	6.738000|6.738000	0.74822|0.74822	2.405000|2.405000	0.81733|0.81733	0.462000|0.462000	0.41574|0.41574	GCC|AGC		0.572	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		Missense_Mutation	9	73	0	0	0	1	0	9	73					T	132662705	C	T	132662705	5	4	69	1	0	0	0	0	0	0	1	0	5990	695	24	2	319	2	FNBP1	9	132662705	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	267598	132662705	8550726	82	8558											
PITRM1	10531	broad.mit.edu	37	chr10	3185639	3185639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattcacccacgtaattcaCcgggaagggcatcaggaagt	11	11	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:3185639C>A	ENST00000224949.4	-	23	2621	c.2587G>T	c.(2587-2589)Gtg>Ttg	p.V863L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Missense_Mutation_p.V864L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	863					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGTAATTCACCGGGAAGGGC	0.592																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2590-2592)Gtg>Ttg		pitrilysin metallopeptidase 1							111	117	115					10																	3185639		2060	4199	6259	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3185639C>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2587G>T	10.37:g.3185639C>A	ENSP00000224949:p.Val863Leu					PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000224949.4_Missense_Mutation_p.V863L|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA	p.V864L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			23	2628	-			765					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2590G>T	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.85|19.85	3.903997|3.903997	0.72754|0.72754	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.|T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72045|0.72045	0.3412|0.3412	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.927;0.991;0.993;0.993;0.993	T|T	0.79347|0.79347	-0.1841|-0.1841	5|10	.|0.87932	.|D	.|0	-29.6242|-29.6242	18.5462|18.5462	0.91047|0.91047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|856;765;864;863;856	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	V|L	196|863;856;864;421;765;44	.|ENSP00000224949:V863L;ENSP00000370377:V864L;ENSP00000370382:V421L;ENSP00000401201:V765L;ENSP00000399307:V44L	.|ENSP00000224949:V863L	G|V	-|-	2|1	0|0	PITRM1|PITRM1	3175639|3175639	1.000000|1.000000	0.71417|0.71417	0.211000|0.211000	0.23655|0.23655	0.121000|0.121000	0.20230|0.20230	7.541000|7.541000	0.82084|0.82084	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			18	272	1	0	0.000566183	1	0.000570377	18	272					A	3185639	C	A	3185639	3	1	69	1	0	0	0	0	1	0	0	0	11995	507	18	3	546	3	PITRM1	10	3185639	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		3185639	132349108	83	8559											
C1QL3	389941	broad.mit.edu	37	chr10	16562659	16562659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgtagccttcatgctGccgcttgaggccggcgtaga	12	14	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:16562659G>A	ENST00000298943.3	-	1	1345	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	136	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTCATGCTGCCGCTTGAGG	0.687																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(406-408)Cag>Tag		complement component 1, q subcomponent-like 3							127	106	113					10																	16562659		2203	4300	6503	SO:0001587	stop_gained	389941					collagen		g.chr10:16562659G>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.406C>T	10.37:g.16562659G>A	ENSP00000298943:p.Gln136*						p.Q136*	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1345	-			136			C1q.		A0PJY4|A0PJY5	Nonsense_Mutation	SNP	ENST00000298943.3	37	c.406C>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	44	10.640110	0.99442	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	.	.	.	3.56	3.56	0.40772	.	0.194179	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.3	0.73940	0.0:0.0:1.0:0.0	.	.	.	.	X	136;113	.	ENSP00000298943:Q136X	Q	-	1	0	C1QL3	16602665	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	7.685000	0.84117	1.992000	0.58205	0.637000	0.83480	CAG		0.687	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		12	318	0	0	0	1	0	12	318					A	16562659	G	A	16562659	4	1	69	1	0	0	0	0	0	1	0	0	1967	1328	46	2	369	2	C1QL3	10	16562659	Nonsense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13377020	16562659	118972088	84	8560											
CCDC6	8030	broad.mit.edu	37	chr10	61552865	61552865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcttctccgtggtgaaGgcctctgcagaggggacagg	16	9	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:61552865G>A	ENST00000263102.6	-	9	1466	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	412						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCGTGGTGAAGGCCTCTGCAG	0.562			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1234-1236)cCt>cTt		coiled-coil domain containing 6							114	110	111					10																	61552865		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61552865G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1235C>T	10.37:g.61552865G>A	ENSP00000263102:p.Pro412Leu						p.P412L	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	9	1466	-			412					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1235C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166263	0.57476	.	.	ENSG00000108091	ENST00000263102	T	0.52754	0.65	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.67803	-0.5576	10	0.72032	D	0.01	-10.9482	19.4045	0.94643	0.0:0.0:1.0:0.0	.	412	Q16204	CCDC6_HUMAN	L	412	ENSP00000263102:P412L	ENSP00000263102:P412L	P	-	2	0	CCDC6	61222871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.637000	0.89404	0.563000	0.77884	CCT		0.562	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		21	134	0	0	0	1	0	21	134					A	61552865	G	A	61552865	3	1	69	1	0	0	0	0	1	0	0	0	2837	1000	35	2	193	2	CCDC6	10	61552865	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	44990206	61552865	73981882	85	8561											
DLG5	9231	broad.mit.edu	37	chr10	79589222	79589222	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccccattgaggagcgccttGatggcctgcttcttgtcctt	10	13	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:79589222G>A	ENST00000372391.2	-	12	2081	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG5_ENST00000372388.2_Silent_p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	692	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCGCCTTGATGGCCTGCT	0.587																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2074-2076)atC>atT		discs, large homolog 5 (Drosophila)							195	165	175					10																	79589222		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589222G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2076C>T	10.37:g.79589222G>A						DLG5_ENST00000372388.2_Silent_p.I692I	p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		12	2081	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		692			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.2076C>T	CCDS7353.2																																																																																				0.587	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			25	750	0	0	0	1	0	25	750					A	79589222	G	A	79589222	2	1	69	1	0	0	0	0	0	0	0	1	4574	1280	45	2		2	DLG5	10	79589222	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	18036357	79589222	55945525	86	8562											
HBE1	3046	broad.mit.edu	37	chr11	5289744	5289744	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggcgacagcagacaccagCttctgccaggcagcctgcac	11	15	1	1	rs529015660		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:5289744C>G	ENST00000380237.1	-	5	743	c.399G>C	c.(397-399)aaG>aaC	p.K133N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	133					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACACCAGCTTCTGCCAGG	0.532																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(397-399)aaG>aaC		hemoglobin, epsilon 1							161	141	148					11																	5289744		2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289744C>G	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.399G>C	11.37:g.5289744C>G	ENSP00000369586:p.Lys133Asn					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380252.1_Intron	p.K133N			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	743	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	133					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.399G>C	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853467	0.71719	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.95482	-3.72;-3.72	6.06	2.03	0.26663	Globin-like (1);Globin, structural domain (1);	0.065321	0.64402	U	0.000014	D	0.97971	0.9332	H	0.96662	3.86	0.58432	D	0.999993	D	0.76494	0.999	D	0.65874	0.939	D	0.96683	0.9505	10	0.87932	D	0	-25.6695	8.6332	0.33933	0.0:0.6625:0.0:0.3375	.	133	P02100	HBE_HUMAN	N	133	ENSP00000369586:K133N;ENSP00000292896:K133N	ENSP00000292896:K133N	K	-	3	2	HBE1	5246320	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.268000	0.33062	0.113000	0.18004	-0.150000	0.13652	AAG		0.532	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		109	531	0	0	0	1	0	109	531					G	5289744	C	G	5289744	3	3	69	1	0	0	0	0	1	0	0	0	7010	796	28	5	48	5	HBE1	11	5289744	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		5289744	129716772	87	8563											
SLC3A2	6520	broad.mit.edu	37	chr11	62648627	62648627	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagaatggtctggtgaaGatcaaggtggcggaagacga	17	4	2	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:62648627G>C	ENST00000377890.2	+	4	603	c.435G>C	c.(433-435)aaG>aaC	p.K145N	SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.K176N	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	145					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTCTGGTGAAGATCAAGGTGG	0.657											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(526-528)aaG>aaC		solute carrier family 3 (amino acid transporter heavy chain), member 2							26	30	29					11																	62648627		2200	4297	6497	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62648627G>C		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.435G>C	11.37:g.62648627G>C	ENSP00000367122:p.Lys145Asn		OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.K145N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N	p.K176N			P08195	4F2_HUMAN			5	752	+			145					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.528G>C	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.105228|4.105228	0.77096|0.77096	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000544377;ENST00000338663;ENST00000539458;ENST00000422606|ENST00000538084	T;T;T;T;T;T;T|.	0.77098|.	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07|.	4.82|4.82	3.91|3.91	0.45181|0.45181	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.58510|0.58510	1.815|1.815	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0;1.0|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.36615|.	T|.	0.2|.	-25.3552|-25.3552	10.8823|10.8823	0.46946|0.46946	0.0915:0.0:0.9085:0.0|0.0915:0.0:0.9085:0.0	.|.	83;114;145;44;176|.	P08195-3;F5GZS6;P08195;P08195-2;P08195-4|.	.;.;4F2_HUMAN;.;.|.	N|T	176;146;145;146;83;114;44;44;44;44|116	ENSP00000367124:K176N;ENSP00000367123:K146N;ENSP00000367122:K145N;ENSP00000367121:K83N;ENSP00000444236:K114N;ENSP00000442135:K44N;ENSP00000340815:K44N|.	ENSP00000340815:K44N|.	K|R	+|+	3|2	2|0	SLC3A2|SLC3A2	62405203|62405203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	4.407000|4.407000	0.59754|0.59754	1.261000|1.261000	0.44149|0.44149	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA		0.657	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		8	44	0	0	0	1	0	8	44					C	62648627	G	C	62648627	3	2	69	1	0	0	0	0	1	0	0	0	14677	933	33	5	549	5	SLC3A2	11	62648627	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	57358883	62648627	72357889	88	8564											
CDCA5	113130	broad.mit.edu	37	chr11	64847203	64847203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcttgaaaaggtcCtccttagtaagctccctgcc	9	12	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:64847203C>T	ENST00000275517.3	-	5	472	c.300G>A	c.(298-300)gaG>gaA	p.E100E	CDCA5_ENST00000404147.3_Silent_p.E100E	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	100					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAAAAGGTCCTCCTTAGTAA	0.567																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(298-300)gaG>gaA		cell division cycle associated 5							18	17	18					11																	64847203		2200	4297	6497	SO:0001819	synonymous_variant	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847203C>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.300G>A	11.37:g.64847203C>T						CDCA5_ENST00000404147.3_Silent_p.E100E	p.E100E	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	472	-			100					A8K625	Silent	SNP	ENST00000275517.3	37	c.300G>A	CCDS8091.1																																																																																				0.567	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		4	67	0	0	0	1	0	4	67					T	64847203	C	T	64847203	2	4	69	1	0	0	0	0	0	0	0	1	3098	680	24	2		2	CDCA5	11	64847203	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2198576	64847203	70159313	89	8565											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351822	65351822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccacatcctggcgcaaCggcttggccttctgtgccat	9	15	2	0	rs533123747	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:65351822C>G	ENST00000309295.4	+	10	3469	c.3204C>G	c.(3202-3204)aaC>aaG	p.N1068K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1068	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGCGCAACGGCTTGGCCT	0.622																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3202-3204)aaC>aaG		EH domain binding protein 1-like 1							62	70	67					11																	65351822		2171	4266	6437	SO:0001583	missense	254102							g.chr11:65351822C>G	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3204C>G	11.37:g.65351822C>G	ENSP00000312671:p.Asn1068Lys						p.N1068K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			10	3469	+			1068			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3204C>G	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.82|19.82	3.897825|3.897825	0.72639|0.72639	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	D;D|.	0.95724|.	-3.79;-3.79|.	5.31|5.31	0.137|0.137	0.14787|0.14787	Calponin homology domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.87932|.	D|.	0|.	.|.	8.6876|8.6876	0.34247|0.34247	0.0:0.4974:0.0:0.5026|0.0:0.4974:0.0:0.5026	.|.	485;1068|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	K|G	1068;485|118	ENSP00000312671:N1068K;ENSP00000431996:N485K|.	ENSP00000312671:N1068K|.	N|R	+|+	3|1	2|2	EHBP1L1|EHBP1L1	65108398|65108398	0.001000|0.001000	0.12720|0.12720	0.984000|0.984000	0.44739|0.44739	0.985000|0.985000	0.73830|0.73830	-1.676000|-1.676000	0.01946|0.01946	-0.226000|-0.226000	0.09899|0.09899	0.561000|0.561000	0.74099|0.74099	AAC|CGG		0.622	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		16	415	0	0	0	1	0	16	415					G	65351822	C	G	65351822	3	3	69	1	0	0	0	0	1	0	0	0	4992	535	19	5	3242	5	EHBP1L1	11	65351822	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	504619	65351822	69654694	90	8566											
CTSF	8722	broad.mit.edu	37	chr11	66331559	66331559	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagccagcaagactcacCttctcaccccagtcagtgcc	7	18	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66331559C>T	ENST00000310325.5	-	12	1489	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	460				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGACTCACCTTCTCACCCC	0.612																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e12+1		cathepsin F							68	62	64					11																	66331559		2200	4295	6495	SO:0001630	splice_region_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66331559C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1380+1G>A	11.37:g.66331559C>T							p.K460_splice	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			12	1489	-			460	SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).				B2R964|O95240|Q9NSU4|Q9UKQ5	Splice_Site	SNP	ENST00000310325.5	37	c.1380_splice	CCDS8144.1																																																																																				0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	Silent	14	112	0	0	0	1	0	14	112					T	66331559	C	T	66331559	5	4	69	1	0	0	0	0	0	0	1	0	4045	695	24	2	82	2	CTSF	11	66331559	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	979737	66331559	68674957	91	8567											
ANKRD13D	338692	broad.mit.edu	37	chr11	67067334	67067334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccttcctggggatggCgcagcagcattcctcccaca	10	16	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67067334C>T	ENST00000447274.2	+	9	1831	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V|ANKRD13D_ENST00000515828.1_5'Flank|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	219						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGGGATGGCGCAGCAGCAT	0.687																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(655-657)gCg>gTg		ankyrin repeat domain 13 family, member D							57	51	53					11																	67067334		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67067334C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.656C>T	11.37:g.67067334C>T	ENSP00000402616:p.Ala219Val					ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V	p.A219V			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1831	+			219					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.656C>T		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312689	0.60414	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000004	T	0.42966	0.1226	L	0.41079	1.255	0.80722	D	1	D;D	0.56746	0.977;0.973	P;P	0.50537	0.56;0.643	T	0.15694	-1.0428	10	0.15066	T	0.55	-19.9301	17.0487	0.86511	0.0:1.0:0.0:0.0	.	306;219	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	V	219;306;219;219	ENSP00000402616:A219V;ENSP00000427130:A306V;ENSP00000310874:A219V;ENSP00000444404:A219V	ENSP00000310874:A219V	A	+	2	0	ANKRD13D	66823910	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.355000	0.79434	2.351000	0.79841	0.313000	0.20887	GCG		0.687	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		27	291	0	0	0	1	0	27	291					T	67067334	C	T	67067334	3	4	69	1	0	0	0	0	1	0	0	0	644	768	27	1	951	1	ANKRD13D	11	67067334	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	735775	67067334	67939182	92	8568											
SSH3	54961	broad.mit.edu	37	chr11	67076881	67076899	+	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	-													gggacagggtcacccacatcTtgaacatggcccgggagatt					rs201014608|rs200425789|rs371608162|rs74859815	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	ENST00000308127.4	+	11	1253_1271	c.1075_1093delTTGAACATGGCCCGGGAGA	c.(1075-1095)ttgaacatggcccgggagattfs	p.LNMAREI359fs	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	359	Tyrosine-protein phosphatase.				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)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT	0.635																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1075-1095)ttfs		slingshot protein phosphatase 3																																				SO:0001589	frameshift_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1075_1093delTTGAACATGGCCCGGGAGA	11.37:g.67076881_67076899delTTGAACATGGCCCGGGAGA	ENSP00000312081:p.Leu359fs					SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron	p.LNMAREI359fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1253_1271	+			359			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Frame_Shift_Del	DEL	ENST00000308127.4	37	c.1075_1093delTTGAACATGGCCCGGGAGA	CCDS8157.1																																																																																				0.635	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		24	415						24	415	---	---	---	---	-	67076899	TTGAACATGGCCCGGGAGA	-	67076881	7	5	69	1	0	1	0	1	0	0	0	0	15238	1606	56	0	1117	0	SSH3	11	67076881	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TCGA-HZ-7918-01A-11D-2154-08	9547	67076881	67929635	93	8569											
MRPL48	51642	broad.mit.edu	37	chr11	73555970	73555980	+	Frame_Shift_Del	DEL	CCCAGTATGTT	CCCAGTATGTT	-													gaccctggcagagagttatgCccagtatgttcacaacctct					rs528945216		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:73555970_73555980delCCCAGTATGTT	ENST00000310614.7	+	5	976_986	c.320_330delCCCAGTATGTT	c.(319-330)gcccagtatgttfs	p.AQYV107fs	MRPL48_ENST00000314282.7_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	107						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GAGAGTTATGCCCAGTATGTTCACAACCTCT	0.403																																						ENST00000314282.7																			0				kidney(1)	1						c.(22-33)gfs		mitochondrial ribosomal protein L48																																				SO:0001589	frameshift_variant	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555970_73555980delCCCAGTATGTT	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.320_330delCCCAGTATGTT	11.37:g.73555970_73555980delCCCAGTATGTT	ENSP00000308717:p.Ala107fs					MRPL48_ENST00000310614.7_Frame_Shift_Del_p.AQYV107fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs	p.AQYV8fs			Q96GC5	RM48_HUMAN			2	1374_1384	+			107					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Frame_Shift_Del	DEL	ENST00000310614.7	37	c.23_33delCCCAGTATGTT	CCDS44676.1																																																																																				0.403	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		40	241						40	241	---	---	---	---	-	73555980	CCCAGTATGTT	-	73555970	7	5	69	1	0	1	0	1	0	0	0	0	9853	739	26	0	338	0	MRPL48	11	73555970	Frame_Shift_Del	DEL	CCCAGTATGTT	TCGA-HZ-7918-01A-11D-2154-08	6479089	73555970	61450546	94	8570											
NCAM1	4684	broad.mit.edu	37	chr11	113105776	113105776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggagggcatcgtcaCcatcgtgggcctgaagcccg	14	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:113105776C>A	ENST00000533760.1	+	13	1930	c.1331C>A	c.(1330-1332)aCc>aAc	p.T444N	NCAM1_ENST00000316851.7_Missense_Mutation_p.T562N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	572	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCATCGTCACCATCGTGGGC	0.547																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1684-1686)aCc>aAc		neural cell adhesion molecule 1							24	26	25					11																	113105776		1979	4153	6132	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105776C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1331C>A	11.37:g.113105776C>A	ENSP00000473281:p.Thr444Asn					NCAM1_ENST00000533760.1_Missense_Mutation_p.T444N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N	p.T562N	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1685	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	572			Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1685C>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.055207	0.75960	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.60920	0.15;0.15	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.279835	0.32578	U	0.005902	T	0.79100	0.4389	.	.	.	0.47214	D	0.99935	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.77004	0.985;0.973;0.984;0.989	T	0.80538	-0.1338	9	0.87932	D	0	-43.2019	20.1336	0.98010	0.0:1.0:0.0:0.0	.	572;562;572;562	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	N	444;571;562;6	ENSP00000384055:T571N;ENSP00000318472:T562N	ENSP00000318472:T562N	T	+	2	0	NCAM1	112610986	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.184000	0.42575	2.767000	0.95098	0.591000	0.81541	ACC		0.547	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		10	35	1	0	0.000442599	1	0.000447535	10	35					A	113105776	C	A	113105776	3	1	69	1	0	0	0	0	1	0	0	0	10244	507	18	3	1770	3	NCAM1	11	113105776	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	39549806	113105776	21900740	95	8571											
MLL	4297	broad.mit.edu	37	chr11	118375783	118375783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctactgatagtcctggccCgtctcagatttccaatgcag	8	12	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:118375783C>T	ENST00000389506.5	+	27	9167	c.9167C>T	c.(9166-9168)cCg>cTg	p.P3056L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3059L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3056					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGTCCTGGCCCGTCTCAGATT	0.507																																						ENST00000534358.1																			0											c.(9175-9177)cCg>cTg		lysine (K)-specific methyltransferase 2A							111	104	106					11																	118375783		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118375783C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9167C>T	11.37:g.118375783C>T	ENSP00000374157:p.Pro3056Leu					KMT2A_ENST00000389506.5_Missense_Mutation_p.P3056L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L	p.P3059L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	9199	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9176C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862681	0.32884	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85013	-1.93;-1.93;-1.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53006	0.715;0.715	D	0.86967	0.2095	10	0.51188	T	0.08	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3059;3056	E9PQG7;Q03164	.;MLL1_HUMAN	L	3059;3056;3018;1966	ENSP00000436786:P3059L;ENSP00000374157:P3056L;ENSP00000346516:P3018L	ENSP00000346516:P3018L	P	+	2	0	MLL	117880993	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCG		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		30	753	0	0	0	1	0	30	753					T	118375783	C	T	118375783	3	4	69	1	0	0	0	0	1	0	0	0	9661	652	23	1	9273	1	MLL	11	118375783	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	5270007	118375783	16630733	96	8572											
BSX	390259	broad.mit.edu	37	chr11	122850021	122850021	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctccactcgttctggcgtgGacaggtagcgctggatctcg	14	12	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:122850021G>C	ENST00000343035.2	-	2	455	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	136					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TTCTGGCGTGGACAGGTAGCG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(406-408)tCc>tGc		brain-specific homeobox							63	74	70					11																	122850021		2080	4203	6283	SO:0001583	missense	390259							g.chr11:122850021G>C		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.407C>G	11.37:g.122850021G>C	ENSP00000344285:p.Ser136Cys						p.S136C	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	455	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136						Missense_Mutation	SNP	ENST00000343035.2	37	c.407C>G	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604204	0.87157	.	.	ENSG00000188909	ENST00000343035	D	0.96522	-4.04	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053098	0.85682	D	0.000000	D	0.97632	0.9224	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.25751	T	0.34	.	15.2252	0.73345	0.0:0.1409:0.8591:0.0	.	136	Q3C1V8	BSH_HUMAN	C	136	ENSP00000344285:S136C	ENSP00000344285:S136C	S	-	2	0	BSX	122355231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.525000	0.73795	2.454000	0.82982	0.655000	0.94253	TCC		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		24	459	0	0	0	1	0	24	459					C	122850021	G	C	122850021	3	2	69	1	0	0	0	0	1	0	0	0	1539	1174	41	5	301	5	BSX	11	122850021	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4474238	122850021	12156495	97	8573											
CACNA1C	775	broad.mit.edu	37	chr12	2760901	2760901	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agccgtggggagggcatccgGacgctgctgtggaccttcat	16	11	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:2760901G>C	ENST00000347598.4	+	34	4185	c.4185G>C	c.(4183-4185)cgG>cgC	p.R1395R	CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399655.1_Silent_p.R1347R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000402845.3_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000399601.1_Silent_p.R1347R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1395					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)			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)	AGGGCATCCGGACGCTGCTGT	0.637																																						ENST00000399655.1																			0				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						c.(4039-4041)cgG>cgC		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						50	60	57					12																	2760901		2200	4299	6499	SO:0001819	synonymous_variant	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.chr12:2760901G>C	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.4185G>C	12.37:g.2760901G>C						CACNA1C_ENST00000399601.1_Silent_p.R1347R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000347598.4_Silent_p.R1395R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000402845.3_Silent_p.R1347R	p.R1347R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	4306	+			1395					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	Silent	SNP	ENST00000347598.4	37	c.4041G>C	CCDS44788.1																																																																																				0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		39	205	0	0	0	1	0	39	205					C	2760901	G	C	2760901	2	2	69	1	0	0	0	0	0	0	0	1	2547	1161	41	5		5	CACNA1C	12	2760901	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2760901	131090994	98	8574											
CHD4	1108	broad.mit.edu	37	chr12	6692545	6692545	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttctacctcctcttcctcCtgggacagagggagggccag	12	14	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:6692545C>A	ENST00000357008.2	-	26	4043		c.e26-1		RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000540960.1_Intron	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCTCTTCCTCCTGGGACAGAG	0.532																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.e26-1		chromodomain helicase DNA binding protein 4							122	120	121					12																	6692545		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692545C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3880-1G>T	12.37:g.6692545C>A						CHD4_ENST00000540960.1_Intron|CHD4_ENST00000357008.2_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site				Q14839	CHD4_HUMAN			26	4043	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388725	0.61956	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6562806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.832000	0.97577	0.655000	0.94253	.		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	24	660	1	0	3.5997e-14	1	3.78038e-14	24	660					A	6692545	C	A	6692545	5	1	69	1	0	0	0	0	0	0	1	0	3336	695	24	3	1919	3	CHD4	12	6692545	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3931644	6692545	127159350	99	8575											
PHC1	1911	broad.mit.edu	37	chr12	9087018	9087032	+	In_Frame_Del	DEL	ATTCTCACCCACATC	ATTCTCACCCACATC	-													aggccatcgtgaagccccagAttctcacccacatcattgaa							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:9087018_9087032delATTCTCACCCACATC	ENST00000543824.1	+	11	2529_2543	c.2197_2211delATTCTCACCCACATC	c.(2197-2211)attctcacccacatcdel	p.ILTHI733del	PHC1_ENST00000433083.2_In_Frame_Del_p.ILTHI688del|PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	733					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAAGCCCCAGATTCTCACCCACATCATTGAAGGCT	0.544																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2062-2076)del		polyhomeotic homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087018_9087032delATTCTCACCCACATC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2197_2211delATTCTCACCCACATC	12.37:g.9087018_9087032delATTCTCACCCACATC	ENSP00000440674:p.Ile733_Ile737del					PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del|PHC1_ENST00000543824.1_In_Frame_Del_p.ILTHI733del	p.ILTHI688del			P78364	PHC1_HUMAN			9	2207_2221	+			733					D3DUV4|Q8WVM3|Q9BU63	In_Frame_Del	DEL	ENST00000543824.1	37	c.2062_2076delATTCTCACCCACATC	CCDS8597.1																																																																																				0.544	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		8	507						8	507	---	---	---	---	-	9087032	ATTCTCACCCACATC	-	9087018	7	5	69	1	0	1	0	1	0	0	0	0	11858	333	12	0	2231	0	PHC1	12	9087018	In_Frame_Del	DEL	ATTCTCACCCACATC	TCGA-HZ-7918-01A-11D-2154-08	2394473	9087018	124764877	100	8576											
KIAA1467	57613	broad.mit.edu	37	chr12	13219646	13219646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtgaagtacaacatcGttggagttgggaatctgatt	12	6	1	2	rs145573782		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:13219646G>A	ENST00000197268.8	+	6	1045	c.925G>A	c.(925-927)Gtt>Att	p.V309I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	309						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTACAACATCGTTGGAGTTGG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20873	0.001		0.0	False		,,,				2504	0.0					ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(925-927)Gtt>Att		KIAA1467							182	156	165					12																	13219646		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13219646G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.925G>A	12.37:g.13219646G>A	ENSP00000197268:p.Val309Ile						p.V309I	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	6	1045	+		Prostate(47;0.184)	309					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.925G>A	CCDS31750.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.65	1.702571	0.30232	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.21734	1.99	5.58	2.75	0.32379	.	0.151025	0.64402	D	0.000015	T	0.12305	0.0299	L	0.31294	0.92	0.26197	N	0.9795	B	0.25235	0.121	B	0.14023	0.01	T	0.13469	-1.0508	10	0.34782	T	0.22	-13.0986	6.2254	0.20706	0.352:0.0:0.648:0.0	.	309	A2RU67	K1467_HUMAN	I	309;85	ENSP00000437974:V85I	ENSP00000197268:V309I	V	+	1	0	KIAA1467	13110913	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.709000	0.37909	1.352000	0.45808	0.650000	0.86243	GTT		0.507	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		18	399	0	0	0	1	0	18	399					A	13219646	G	A	13219646	3	1	69	1	0	0	0	0	1	0	0	0	8265	1145	40	1	947	1	KIAA1467	12	13219646	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4132628	13219646	120632249	101	8577											
SLC2A13	114134	broad.mit.edu	37	chr12	40499348	40499348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggaagccgcccagcgcgGagaagacggccaccacgtac	13	15	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:40499348G>A	ENST00000280871.4	-	1	313	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	88					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCCAGCGCGGAGAAGACGGC	0.721										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(262-264)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 13							10	11	11					12																	40499348		2159	4233	6392	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499348G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.263C>T	12.37:g.40499348G>A	ENSP00000280871:p.Ser88Phe	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			1	313	-		Lung NSC(34;0.105)|all_lung(34;0.123)	88					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.263C>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491660	0.84962	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58940	0.3;0.3	3.88	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.235349	0.36932	N	0.002323	T	0.74152	0.3679	M	0.79805	2.47	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.99	T	0.77661	-0.2504	10	0.87932	D	0	-9.45	10.6446	0.45613	0.095:0.0:0.905:0.0	.	88;88	Q96QE2;E9PE47	MYCT_HUMAN;.	F	88	ENSP00000280871:S88F;ENSP00000370239:S88F	ENSP00000280871:S88F	S	-	2	0	SLC2A13	38785615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.537000	0.73847	1.710000	0.51325	0.462000	0.41574	TCC		0.721	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			6	34	0	0	0	1	0	6	34					A	40499348	G	A	40499348	3	1	69	1	0	0	0	0	1	0	0	0	14592	1174	41	2	1723	2	SLC2A13	12	40499348	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	27279702	40499348	93352547	102	8578											
ARID2	196528	broad.mit.edu	37	chr12	46245520	46245520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcaggaattaccatgagcgGaacgcagacaggagttggac	14	8	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:46245520G>C	ENST00000334344.6	+	15	3786	c.3614G>C	c.(3613-3615)gGa>gCa	p.G1205A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.G815A|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1205					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCATGAGCGGAACGCAGACA	0.483			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3613-3615)gGa>gCa		AT rich interactive domain 2 (ARID, RFX-like)							69	64	66					12																	46245520		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245520G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3614G>C	12.37:g.46245520G>C	ENSP00000335044:p.Gly1205Ala					ARID2_ENST00000444670.1_Missense_Mutation_p.G815A|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A|ARID2_ENST00000479608.1_3'UTR	p.G1205A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3786	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1205					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3614G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	5.049	0.194686	0.09599	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.33865	1.39	6.17	6.17	0.99709	.	0.101926	0.64402	D	0.000003	T	0.32010	0.0815	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46859	0.885;0.885;0.817	P;P;B	0.45753	0.492;0.492;0.23	T	0.02813	-1.1107	10	0.06099	T	0.92	-8.32	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1205;815;1205	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1205;322;322;1056;815	ENSP00000335044:G1205A	ENSP00000335044:G1205A	G	+	2	0	ARID2	44531787	1.000000	0.71417	0.869000	0.34112	0.004000	0.04260	7.071000	0.76770	2.941000	0.99782	0.655000	0.94253	GGA		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		50	249	0	0	0	1	0	50	249					C	46245520	G	C	46245520	3	2	69	1	0	0	0	0	1	0	0	0	915	1174	41	5	3672	5	ARID2	12	46245520	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	5746172	46245520	87606375	103	8579											
TDG	6996	broad.mit.edu	37	chr12	104373759	104373759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacacatttaaagtaaaaaGaaaagtagaccgttttaatg	7	4	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:104373759G>A	ENST00000392872.3	+	3	551	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	106					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)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGTAAAAAGAAAAGTAGAC	0.353								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(316-318)aGa>aAa	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							68	65	66					12																	104373759		2203	4300	6503	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.chr12:104373759G>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.317G>A	12.37:g.104373759G>A	ENSP00000376611:p.Arg106Lys					TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K	p.R106K	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	3	551	+			106					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.317G>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187914	0.78789	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T	0.46451	2.06;2.06;0.87	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.58669	1.825	0.80722	D	1	D;P;P	0.89917	1.0;0.518;0.518	D;B;B	0.83275	0.996;0.443;0.443	T	0.53114	-0.8484	10	0.14252	T	0.57	-10.642	18.4652	0.90752	0.0:0.0:1.0:0.0	.	106;106;106	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	K	106;81;102;106	ENSP00000376611:R106K;ENSP00000266775:R102K;ENSP00000439825:R106K	ENSP00000266775:R102K	R	+	2	0	TDG	102897889	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	9.042000	0.93793	2.348000	0.79779	0.557000	0.71058	AGA		0.353	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			29	294	0	0	0	1	0	29	294					A	104373759	G	A	104373759	3	1	69	1	0	0	0	0	1	0	0	0	15777	942	33	2	327	2	TDG	12	104373759	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	58128239	104373759	29478136	104	8580											
SNRNP35	11066	broad.mit.edu	37	chr12	123950763	123950764	+	Frame_Shift_Del	DEL	GA	GA	-													tgtggcccgacaatgactggGagagagagagggacttcaga					rs140314616		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:123950763_123950764delGA	ENST00000526639.2	+	2	1255_1256	c.676_677delGA	c.(676-678)gagfs	p.E226fs	SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	226	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E226*(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAATGACTGGGAGAGAGAGAGG	0.554																																						ENST00000526639.2																			1	Substitution - Nonsense(1)	p.E226*(1)	NS(1)	NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(676-678)gfs		small nuclear ribonucleoprotein 35kDa (U11/U12)																																				SO:0001589	frameshift_variant	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950763_123950764delGA	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.676_677delGA	12.37:g.123950771_123950772delGA	ENSP00000432595:p.Glu226fs					SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs	p.E226fs	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1255_1256	+			226			Arg-rich.		A8K262|Q5XKN9	Frame_Shift_Del	DEL	ENST00000526639.2	37	c.676_677delGA	CCDS9249.1																																																																																				0.554	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		7	344						7	344	---	---	---	---	-	123950764	GA	-	123950763	7	5	69	1	0	1	0	1	0	0	0	0	14905	1175	41	0	697	0	SNRNP35	12	123950763	Frame_Shift_Del	DEL	GA	TCGA-HZ-7918-01A-11D-2154-08	19577004	123950763	9901132	105	8581											
ZIC5	85416	broad.mit.edu	37	chr13	100617947	100617947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgagtgtaggatttgTcacagcctcgaatcttgcag	13	7	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:100617947T>A	ENST00000267294.4	-	2	1909	c.1676A>T	c.(1675-1677)gAc>gTc	p.D559V		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	559					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGGATTTGTCACAGCCTCG	0.522																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1675-1677)gAc>gTc		Zic family member 5							203	177	186					13																	100617947		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617947T>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1676A>T	13.37:g.100617947T>A	ENSP00000267294:p.Asp559Val						p.D559V	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1909	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		559					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1676A>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304563	0.81136	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.54279	0.58	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71350	0.3329	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74487	-0.3649	9	0.87932	D	0	.	15.8149	0.78592	0.0:0.0:0.0:1.0	.	559	Q96T25	ZIC5_HUMAN	V	197;559	ENSP00000267294:D559V	ENSP00000267294:D559V	D	-	2	0	ZIC5	99415948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.198000	0.70561	0.533000	0.62120	GAC		0.522	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		140	394	0	0	0	1	0	140	394					A	100617947	T	A	100617947	3	1	69	1	0	0	0	0	1	0	0	0	17735	1667	58	5	319	5	ZIC5	13	100617947	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		100617947	14551931	106	8582											
CHD8	57680	broad.mit.edu	37	chr14	21861651	21861651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacttagcttctcttccttCtcatcctcactctcatcagt	2	16	6	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:21861651C>T	ENST00000557364.1	-	32	6566	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.E1822E|CHD8_ENST00000399982.2_Silent_p.E2101E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2101					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTCTTCCTTCTCATCCTCAC	0.498																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6301-6303)gaG>gaA		chromodomain helicase DNA binding protein 8							17	18	18					14																	21861651		2075	4204	6279	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861651C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6303G>A	14.37:g.21861651C>T						CHD8_ENST00000430710.3_Silent_p.E1822E|CHD8_ENST00000557364.1_Silent_p.E2101E	p.E2101E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6367	-	all_cancers(95;0.00121)		2101					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6303G>A	CCDS53885.1																																																																																				0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	37	0	0	0	1	0	7	37					T	21861651	C	T	21861651	2	4	69	1	0	0	0	0	0	0	0	1	3340	912	32	2		2	CHD8	14	21861651	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		21861651	85487889	107	8583											
COCH	1690	broad.mit.edu	37	chr14	31355263	31355270	+	Frame_Shift_Del	DEL	GCTGTACA	GCTGTACA	-													acattggtgccaagatagctGctgtacagtttacttatgat							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:31355263_31355270delGCTGTACA	ENST00000396618.3	+	11	1278_1285	c.1222_1229delGCTGTACA	c.(1222-1230)gctgtacagfs	p.AVQ408fs	RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000460581.2_Frame_Shift_Del_p.AVQ296fs	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	408	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CAAGATAGCTGCTGTACAGTTTACTTAT	0.442																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(886-894)gfs		cochlin																																				SO:0001589	frameshift_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355263_31355270delGCTGTACA		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1222_1229delGCTGTACA	14.37:g.31355263_31355270delGCTGTACA	ENSP00000379862:p.Ala408fs					RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000396618.3_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs	p.AVQ296fs			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1432_1439	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		408			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Frame_Shift_Del	DEL	ENST00000396618.3	37	c.886_893delGCTGTACA	CCDS9640.1																																																																																				0.442	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		38	417						38	417	---	---	---	---	-	31355270	GCTGTACA	-	31355263	7	5	69	1	0	1	0	1	0	0	0	0	3665	1319	46	0	1260	0	COCH	14	31355263	Frame_Shift_Del	DEL	GCTGTACA	TCGA-HZ-7918-01A-11D-2154-08	9493612	31355263	75994277	108	8584											
NFKBIA	4792	broad.mit.edu	37	chr14	35873637	35873637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacttacgagtccccgtcctCggtgagctgctgcttccagg	11	15	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:35873637C>G	ENST00000216797.5	-	1	315	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	NFKBIA_ENST00000557389.1_5'Flank|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	72					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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 DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TCCCCGTCCTCGGTGAGCTGC	0.741																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(214-216)Gag>Cag		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							11	12	12					14																	35873637		2170	4249	6419	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35873637C>G		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.214G>C	14.37:g.35873637C>G	ENSP00000216797:p.Glu72Gln					NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q	p.E72Q	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	1	315	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		72					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.214G>C	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827293	0.90955	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;D	0.88509	0.79;0.71;-2.39	3.87	3.87	0.44632	Ankyrin repeat-containing domain (1);	.	.	.	.	D	0.92567	0.7639	M	0.86864	2.845	0.80722	D	1	P;P	0.52463	0.953;0.701	P;B	0.49999	0.628;0.052	D	0.94296	0.7533	9	0.72032	D	0.01	-19.5044	16.1623	0.81730	0.0:1.0:0.0:0.0	.	72;72	G3V3I4;P25963	.;IKBA_HUMAN	Q	72;72;48	ENSP00000216797:E72Q;ENSP00000451257:E72Q;ENSP00000451281:E48Q	ENSP00000216797:E72Q	E	-	1	0	NFKBIA	34943388	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.977000	0.76141	1.853000	0.53794	0.313000	0.20887	GAG		0.741	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		11	71	0	0	0	1	0	11	71					G	35873637	C	G	35873637	3	3	69	1	0	0	0	0	1	0	0	0	10419	893	31	5	763	5	NFKBIA	14	35873637	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4518374	35873637	71475903	109	8585											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	219						7	219	---	---	---	---	-	93397926	GAG	-	93397924	7	5	69	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-HZ-7918-01A-11D-2154-08	57524287	93397924	13951616	110	8586											
TRMT61A	115708	broad.mit.edu	37	chr14	103996579	103996579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcacgcagatcctctaCtccacagacatcgccctcat	5	19	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:103996579C>T	ENST00000389749.4	+	2	371	c.264C>T	c.(262-264)taC>taT	p.Y88Y	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	88						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						AGATCCTCTACTCCACAGACA	0.622																																						ENST00000389749.4																			0				skin(1)	1						c.(262-264)taC>taT		tRNA methyltransferase 61 homolog A (S. cerevisiae)							87	95	92					14																	103996579		2186	4280	6466	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996579C>T	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.264C>T	14.37:g.103996579C>T							p.Y88Y	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			2	371	+			88					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.264C>T	CCDS41994.1																																																																																				0.622	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		91	444	0	0	0	1	0	91	444					T	103996579	C	T	103996579	2	4	69	1	0	0	0	0	0	0	0	1	16622	576	20	2		2	TRMT61A	14	103996579	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	10598655	103996579	3352961	111	8587											
DPP8	54878	broad.mit.edu	37	chr15	65793003	65793003	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccactaccggcttgaaacaGaaatgttccacttccttggt	7	12	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:65793003G>A	ENST00000341861.5	-	4	2115	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	DPP8_ENST00000300141.6_Silent_p.L163L|DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	179					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.L163V(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						GCTTGAAACAGAAATGTTCCA	0.403																																						ENST00000341861.5																			1	Substitution - Missense(1)	p.L163V(1)	lung(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						c.(535-537)Ctg>Ttg		dipeptidyl-peptidase 8							192	181	185					15																	65793003		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65793003G>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.535C>T	15.37:g.65793003G>A						DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000300141.6_Silent_p.L163L	p.L179L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			4	2115	-			179					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.535C>T	CCDS10207.1																																																																																				0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		102	757	0	0	0	1	0	102	757					A	65793003	G	A	65793003	2	1	69	1	0	0	0	0	0	0	0	1	4748	933	33	2		2	DPP8	15	65793003	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		65793003	36738389	112	8588											
ADPGK	83440	broad.mit.edu	37	chr15	73045100	73045100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcaagatccagaagAggatgtcactgaccatgccc	9	11	3	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:73045100A>G	ENST00000311669.8	-	7	1166	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	359	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GATCCAGAAGAGGATGTCACT	0.517																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1072-1074)cTc>cCc		ADP-dependent glucokinase							92	90	91					15																	73045100		2005	4174	6179	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045100A>G	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1073T>C	15.37:g.73045100A>G	ENSP00000312250:p.Leu358Pro					ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P	p.L358P	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1166	-			359			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1073T>C	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738815	0.89573	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.52057	0.68;0.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.996;0.996	T	0.74359	-0.3691	10	0.87932	D	0	-27.9599	16.5446	0.84426	1.0:0.0:0.0:0.0	.	301;359;358;84	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	P	358;278;84;237	ENSP00000312250:L358P;ENSP00000397694:L84P	ENSP00000312250:L358P	L	-	2	0	ADPGK	70832153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.311000	0.77944	0.533000	0.62120	CTC		0.517	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		84	390	0	0	0	1	0	84	390					G	73045100	A	G	73045100	3	3	69	1	0	0	0	0	1	0	0	0	330	304	11	4	421	4	ADPGK	15	73045100	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	7252097	73045100	29486292	113	8589											
MESDC1	59274	broad.mit.edu	37	chr15	81295381	81295381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgggcccctggtgcagGcagtgagcgccctggtaggc	17	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:81295381G>T	ENST00000267984.2	+	1	2087	c.769G>T	c.(769-771)Gca>Tca	p.A257S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	257										endometrium(1)|lung(2)	3						CCTGGTGCAGGCAGTGAGCGC	0.736																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(769-771)Gca>Tca		mesoderm development candidate 1							5	6	6					15																	81295381		2085	4044	6129	SO:0001583	missense	59274							g.chr15:81295381G>T	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.769G>T	15.37:g.81295381G>T	ENSP00000267984:p.Ala257Ser						p.A257S	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2087	+			257						Missense_Mutation	SNP	ENST00000267984.2	37	c.769G>T	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420368	0.25552	.	.	ENSG00000140406	ENST00000267984	T	0.07567	3.18	4.75	4.75	0.60458	.	0.068778	0.56097	D	0.000026	T	0.06962	0.0177	N	0.20986	0.625	0.51012	D	0.9999	B	0.15930	0.015	B	0.14023	0.01	T	0.25606	-1.0127	10	0.42905	T	0.14	-13.9108	12.7618	0.57370	0.0:0.0:0.7918:0.2082	.	257	Q9H1K6	MESD1_HUMAN	S	257	ENSP00000267984:A257S	ENSP00000267984:A257S	A	+	1	0	MESDC1	79082436	1.000000	0.71417	0.979000	0.43373	0.023000	0.10783	3.578000	0.53892	2.180000	0.69256	0.462000	0.41574	GCA		0.736	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		4	40	1	0	0.00909568	1	0.00912924	4	40					T	81295381	G	T	81295381	3	4	69	1	0	0	0	0	1	0	0	0	9521	1203	42	3	771	3	MESDC1	15	81295381	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8250281	81295381	21236011	114	8590											
SPG7	6687	broad.mit.edu	37	chr16	89611106	89611106	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcgtccacgaaccgagctGacattttggacggtgctctg	13	11	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89611106G>A	ENST00000268704.2	+	10	1390	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1375-1377)Gac>Aac		spastic paraplegia 7 (pure and complicated autosomal recessive)							163	129	141					16																	89611106		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89611106G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1375G>A	16.37:g.89611106G>A	ENSP00000268704:p.Asp459Asn						p.D459N	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	10	1390	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	459					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1375G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546089	0.96488	.	.	ENSG00000197912	ENST00000268704	D	0.95307	-3.67	5.0	5.0	0.66597	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97468	1.0039	10	0.87932	D	0	-0.9236	18.2856	0.90113	0.0:0.0:1.0:0.0	.	459	Q9UQ90	SPG7_HUMAN	N	459	ENSP00000268704:D459N	ENSP00000268704:D459N	D	+	1	0	SPG7	88138607	1.000000	0.71417	0.980000	0.43619	0.902000	0.53008	9.610000	0.98337	2.342000	0.79632	0.462000	0.41574	GAC		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		68	428	0	0	0	1	0	68	428					A	89611106	G	A	89611106	3	1	69	1	0	0	0	0	1	0	0	0	15096	1290	45	2	1563	2	SPG7	16	89611106	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		89611106	743647	115	8591											
SPATA2L	124044	broad.mit.edu	37	chr16	89764126	89764126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaggttccagcccctcCtccaaggccccatatggtgg	11	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89764126C>T	ENST00000289805.5	-	3	959	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	297										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCAGCCCCTCCTCCAAGGCCC	0.682																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(889-891)gaG>gaA		spermatogenesis associated 2-like							25	27	27					16																	89764126		2195	4294	6489	SO:0001819	synonymous_variant	124044							g.chr16:89764126C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.891G>A	16.37:g.89764126C>T						SPATA2L_ENST00000335360.7_Intron	p.E297E	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	959	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	297					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.891G>A	CCDS10985.1																																																																																				0.682	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		15	104	0	0	0	1	0	15	104					T	89764126	C	T	89764126	2	4	69	1	0	0	0	0	0	0	0	1	15061	680	24	2		2	SPATA2L	16	89764126	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	153020	89764126	590627	116	8592											
ITGAE	3682	broad.mit.edu	37	chr17	3661083	3661083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcctcgaatatgccacCatcggtgagcaccaccatga	11	13	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:3661083C>A	ENST00000263087.4	-	9	1035	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AATATGCCACCATCGGTGAGC	0.542																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(937-939)Ggt>Tgt		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							232	213	220					17																	3661083		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661083C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.937G>T	17.37:g.3661083C>A	ENSP00000263087:p.Gly313Cys						p.G313C	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1035	-			313			VWFA.		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.937G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353139	0.82132	.	.	ENSG00000083457	ENST00000263087	D	0.93019	-3.15	5.56	5.56	0.83823	von Willebrand factor, type A (3);	.	.	.	.	D	0.97424	0.9157	M	0.91872	3.25	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.97965	1.0340	9	0.87932	D	0	.	17.3887	0.87424	0.0:1.0:0.0:0.0	.	313	P38570	ITAE_HUMAN	C	313	ENSP00000263087:G313C	ENSP00000263087:G313C	G	-	1	0	ITGAE	3607832	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	5.183000	0.65065	2.787000	0.95880	0.514000	0.50259	GGT		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		186	981	1	0	2.29838e-65	1	2.56212e-65	186	981					A	3661083	C	A	3661083	3	1	69	1	0	0	0	0	1	0	0	0	7915	594	21	3	2694	3	ITGAE	17	3661083	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		3661083	77534127	117	8593											
DNAH9	1770	broad.mit.edu	37	chr17	11650939	11650939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtggcgctggtaccGgcaagtcacaggtgctgagg	19	8	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:11650939G>A	ENST00000262442.4	+	32	6534	c.6466G>A	c.(6466-6468)Ggc>Agc	p.G2156S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2156	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTGGTACCGGCAAGTCACA	0.572																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6466-6468)Ggc>Agc		dynein, axonemal, heavy chain 9							76	71	73					17																	11650939		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650939G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6466G>A	17.37:g.11650939G>A	ENSP00000262442:p.Gly2156Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S	p.G2156S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6534	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2156			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6466G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208342	0.79240	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.92048	-2.96;-2.96	4.5	4.5	0.54988	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99301	1.0901	10	0.87932	D	0	.	17.416	0.87500	0.0:0.0:1.0:0.0	.	2156	Q9NYC9	DYH9_HUMAN	S	2156;2156;738	ENSP00000262442:G2156S;ENSP00000414874:G2156S	ENSP00000262442:G2156S	G	+	1	0	DNAH9	11591664	1.000000	0.71417	0.928000	0.36995	0.327000	0.28475	9.556000	0.98127	2.346000	0.79739	0.557000	0.71058	GGC		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		43	334	0	0	0	1	0	43	334					A	11650939	G	A	11650939	3	1	69	1	0	0	0	0	1	0	0	0	4624	1116	39	1	6592	1	DNAH9	17	11650939	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	7989856	11650939	69544271	118	8594											
NOS2	4843	broad.mit.edu	37	chr17	26108128	26108128	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctggtagccagcataGcggatgagctgagcattcca	13	10	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:26108128G>T	ENST00000313735.6	-	8	1031	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	266				R -> H (in Ref. 8; AAC19133). {ECO:0000305}.	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)			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)	AGCCAGCATAGCGGATGAGCT	0.612																																						ENST00000313735.6																			0				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						c.(796-798)cgC>cgA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						91	79	83					17																	26108128		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:26108128G>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.798C>A	17.37:g.26108128G>T							p.R266R	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			8	1031	-			266	R -> H (in Ref. 8; AAC19133).				A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.798C>A	CCDS11223.1																																																																																				0.612	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		13	406	1	0	1.05317e-09	1	1.08508e-09	13	406					T	26108128	G	T	26108128	2	4	69	1	0	0	0	0	0	0	0	1	10585	958	34	3		3	NOS2	17	26108128	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	14457189	26108128	55087082	119	8595											
TAOK1	57551	broad.mit.edu	37	chr17	27857472	27857472	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaggatacctgcaaaatCcaaaccagacagtacaaagc	6	11	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:27857472C>T	ENST00000261716.3	+	18	2715	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TAOK1_ENST00000536202.1_Silent_p.I584I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	732					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCTGCAAAATCCAAACCAGAC	0.393																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2194-2196)atC>atT		TAO kinase 1							69	62	64					17																	27857472		2203	4300	6503	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27857472C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2196C>T	17.37:g.27857472C>T						TAOK1_ENST00000536202.1_Silent_p.I584I	p.I732I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		18	2715	+			732					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.2196C>T	CCDS32601.1																																																																																				0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		27	198	0	0	0	1	0	27	198					T	27857472	C	T	27857472	2	4	69	1	0	0	0	0	0	0	0	1	15599	845	30	2		2	TAOK1	17	27857472	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	1749344	27857472	53337738	120	8596											
RNF135	84282	broad.mit.edu	37	chr17	29325974	29325984	+	Frame_Shift_Del	DEL	GCCAGCTCTCT	GCCAGCTCTCT	-													tgtggaatggaaggggactaGccagctctctgcatggcaca							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:29325974_29325984delGCCAGCTCTCT	ENST00000328381.5	+	5	1937_1947	c.1064_1074delGCCAGCTCTCT	c.(1063-1074)agccagctctctfs	p.SQLS355fs	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAGGGGACTAGCCAGCTCTCTGCATGGCACA	0.573																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(1063-1074)afs		ring finger protein 135																																				SO:0001589	frameshift_variant	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325974_29325984delGCCAGCTCTCT	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1064_1074delGCCAGCTCTCT	17.37:g.29325974_29325984delGCCAGCTCTCT	ENSP00000328340:p.Ser355fs					RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	p.SQLS355fs	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1937_1947	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	355			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Frame_Shift_Del	DEL	ENST00000328381.5	37	c.1064_1074delGCCAGCTCTCT	CCDS11262.1																																																																																				0.573	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		35	308						35	308	---	---	---	---	-	29325984	GCCAGCTCTCT	-	29325974	7	5	69	1	0	1	0	1	0	0	0	0	13490	971	34	0	1151	0	RNF135	17	29325974	Frame_Shift_Del	DEL	GCCAGCTCTCT	TCGA-HZ-7918-01A-11D-2154-08	1468502	29325974	51869236	121	8597											
WIPF2	147179	broad.mit.edu	37	chr17	38421174	38421176	+	In_Frame_Del	DEL	CTC	CTC	-													accaagtggccagtctctggCtcctcctcctccgccttacc					rs151273872	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:38421174_38421176delCTC	ENST00000323571.4	+	5	986_988	c.746_748delCTC	c.(745-750)gctcct>gct	p.P254del	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.P254del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_In_Frame_Del_p.P254del|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	254	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGTCTCTGGCTCCTCCTCCTCC	0.596										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(745-750)gct>g		WAS/WASL interacting protein family, member 2																																				SO:0001651	inframe_deletion	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421174_38421176delCTC	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.746_748delCTC	17.37:g.38421183_38421185delCTC	ENSP00000320924:p.Pro254del	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del	p.AP249del	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	986_988	+			249					A8K0L3|Q658J8|Q71RE1|Q8TE44	In_Frame_Del	DEL	ENST00000323571.4	37	c.746_748delCTC	CCDS11364.1																																																																																				0.596	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		7	1163						7	1163	---	---	---	---	-	38421176	CTC	-	38421174	7	5	69	1	0	1	0	1	0	0	0	0	17422	797	28	0	760	0	WIPF2	17	38421174	In_Frame_Del	DEL	CTC	TCGA-HZ-7918-01A-11D-2154-08	9095200	38421174	42774036	122	8598											
KRT39	390792	broad.mit.edu	37	chr17	39114945	39114945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctccttggtgatggtgcAaattttaaccagtatccggg	10	8	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:39114945A>G	ENST00000355612.2	-	7	1419	c.1384T>C	c.(1384-1386)Tgc>Cgc	p.C462R	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	462	Tail.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGATGGTGCAAATTTTAACC	0.507																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1384-1386)Tgc>Cgc		keratin 39							133	122	126					17																	39114945		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39114945A>G	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1384T>C	17.37:g.39114945A>G	ENSP00000347823:p.Cys462Arg					AC004231.2_ENST00000418393.1_RNA	p.C462R	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			7	1419	-		Breast(137;0.00043)|Ovarian(249;0.15)	462			Tail.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1384T>C	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	A	9.108	1.005788	0.19199	.	.	ENSG00000196859	ENST00000355612	T	0.81078	-1.45	5.54	2.11	0.27256	.	0.716870	0.12158	N	0.494267	T	0.69142	0.3078	L	0.52573	1.65	0.43485	D	0.995715	B	0.13145	0.007	B	0.06405	0.002	T	0.54105	-0.8343	10	0.02654	T	1	.	7.8536	0.29470	0.6667:0.0:0.3333:0.0	.	462	Q6A163	K1C39_HUMAN	R	462	ENSP00000347823:C462R	ENSP00000347823:C462R	C	-	1	0	KRT39	36368471	0.842000	0.29525	0.990000	0.47175	0.882000	0.50991	1.164000	0.31810	0.075000	0.16796	-0.290000	0.09829	TGC		0.507	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		16	513	0	0	0	1	0	16	513					G	39114945	A	G	39114945	3	3	69	1	0	0	0	0	1	0	0	0	8506	130	5	4	95	4	KRT39	17	39114945	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	693771	39114945	42080265	123	8599											
KLHL11	55175	broad.mit.edu	37	chr17	40010103	40010103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggttttgaggcataggGtatctctgtgtgccatgcaa	12	7	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:40010103G>A	ENST00000319121.3	-	2	2076	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	672										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAGGCATAGGGTATCTCTGTG	0.527																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(2014-2016)taC>taT		kelch-like family member 11							225	199	208					17																	40010103		2203	4300	6503	SO:0001819	synonymous_variant	55175					extracellular region		g.chr17:40010103G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2016C>T	17.37:g.40010103G>A							p.Y672Y	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	2076	-		Breast(137;0.00156)	672						Silent	SNP	ENST00000319121.3	37	c.2016C>T	CCDS11411.1																																																																																				0.527	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		97	574	0	0	0	1	0	97	574					A	40010103	G	A	40010103	2	1	69	1	0	0	0	0	0	0	0	1	8397	1256	44	2		2	KLHL11	17	40010103	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	895158	40010103	41185107	124	8600											
C17orf47	284083	broad.mit.edu	37	chr17	56620313	56620313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggaccgaggaggcaagGgcctaggggtcagttccagt	17	8	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:56620313G>T	ENST00000321691.3	-	1	1416	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	412										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAGGCAAGGGCCTAGGGGT	0.547																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1234-1236)cCc>cAc		chromosome 17 open reading frame 47							137	132	134					17																	56620313		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620313G>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1235C>A	17.37:g.56620313G>T	ENSP00000354874:p.Pro412His					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	p.P412H	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1416	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		412					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1235C>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832788	0.71258	.	.	ENSG00000181013	ENST00000321691	T	0.66099	-0.19	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000006	T	0.70996	0.3288	L	0.34521	1.04	0.39463	D	0.967593	D	0.89917	1.0	D	0.97110	1.0	T	0.74234	-0.3731	10	0.87932	D	0	-15.4301	15.5506	0.76148	0.0:0.0:1.0:0.0	.	412	Q8NEP4	CQ047_HUMAN	H	412	ENSP00000354874:P412H	ENSP00000354874:P412H	P	-	2	0	C17orf47	53975312	0.999000	0.42202	1.000000	0.80357	0.769000	0.43574	3.256000	0.51492	2.739000	0.93911	0.561000	0.74099	CCC		0.547	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		58	567	1	0	1.19403e-26	1	1.30959e-26	58	567					T	56620313	G	T	56620313	3	4	69	1	0	0	0	0	1	0	0	0	1864	1232	43	3	485	3	C17orf47	17	56620313	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	16610210	56620313	24574897	125	8601											
NACA2	342538	broad.mit.edu	37	chr17	59668536	59668536	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggtttctgtggcttcgccCggcattttgtgcagggaacg	14	10	1	0	rs112308210		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:59668536C>G	ENST00000521764.1	-	1	27	c.6G>C	c.(4-6)ccG>ccC	p.P2P		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	2					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGGCTTCGCCCGGCATTTTGT	0.577																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(4-6)ccG>ccC		nascent polypeptide-associated complex alpha subunit 2							51	48	49					17																	59668536		2203	4300	6503	SO:0001819	synonymous_variant	342538				protein transport	cytoplasm|nucleus		g.chr17:59668536C>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.6G>C	17.37:g.59668536C>G							p.P2P	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	27	-	all_epithelial(1;3.12e-14)		2					Q2VIR9	Silent	SNP	ENST00000521764.1	37	c.6G>C	CCDS11630.1																																																																																				0.577	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		13	382	0	0	0	1	0	13	382					G	59668536	C	G	59668536	2	3	69	1	0	0	0	0	0	0	0	1	10175	639	23	5		5	NACA2	17	59668536	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3048223	59668536	21526674	126	8602											
FASN	2194	broad.mit.edu	37	chr17	80049208	80049208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggcatggcggtggcgGggacagccgcgatgtcgttc	20	9	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:80049208G>A	ENST00000306749.2	-	9	1600	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	461	Acyl and malonyl transferases. {ECO:0000250}.			AVPA -> LSPT (in Ref. 2; AAA73576). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCGGTGGCGGGGACAGCCGC	0.701																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(1381-1383)cCc>cTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						15	19	17					17																	80049208		2184	4282	6466	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049208G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1382C>T	17.37:g.80049208G>A	ENSP00000304592:p.Pro461Leu						p.P461L	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		9	1600	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461	AVPA -> LSPT (in Ref. 2; AAA73576).		Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.1382C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231188	0.58777	.	.	ENSG00000169710	ENST00000306749	T	0.25414	1.8	4.41	4.41	0.53225	.	0.269718	0.36482	N	0.002567	T	0.35740	0.0942	L	0.28776	0.89	0.43902	D	0.996533	D	0.65815	0.995	P	0.58820	0.846	T	0.21484	-1.0244	10	0.62326	D	0.03	-5.7597	17.1601	0.86802	0.0:0.0:1.0:0.0	.	461	P49327	FAS_HUMAN	L	461	ENSP00000304592:P461L	ENSP00000304592:P461L	P	-	2	0	FASN	77642497	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	7.495000	0.81514	2.298000	0.77334	0.484000	0.47621	CCC		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		15	87	0	0	0	1	0	15	87					A	80049208	G	A	80049208	3	1	69	1	0	0	0	0	1	0	0	0	5708	1232	43	2	6293	2	FASN	17	80049208	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	20380672	80049208	1146002	127	8603											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	284						7	284	---	---	---	---	-	12986929	TCC	-	12986927	6	5	69	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-HZ-7918-01A-11D-2154-08		12986927	65090321	128	8604											
DYM	54808	broad.mit.edu	37	chr18	46783384	46783384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagttcatatttacctgaTgatcctctgggcagcatact	7	9	2	2	rs61758455		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:46783384T>A	ENST00000269445.6	-	13	1913	c.1456A>T	c.(1456-1458)Atc>Ttc	p.I486F	DYM_ENST00000442713.2_Missense_Mutation_p.I296F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	486					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTTACCTGATGATCCTCTGG	0.403																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1456-1458)Atc>Ttc		dymeclin							119	100	106					18																	46783384		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46783384T>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1456A>T	18.37:g.46783384T>A	ENSP00000269445:p.Ile486Phe					DYM_ENST00000442713.2_Missense_Mutation_p.I296F	p.I486F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			13	1913	-			486					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1456A>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953857	0.73902	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.85258	-1.96;-1.96	5.54	4.38	0.52667	.	0.044822	0.85682	D	0.000000	D	0.87067	0.6085	L	0.45137	1.4	0.80722	D	1	D;P;D;D	0.64830	0.991;0.926;0.993;0.994	P;P;D;P	0.63192	0.858;0.46;0.912;0.892	D	0.85578	0.1238	10	0.45353	T	0.12	.	10.5173	0.44898	0.0:0.0775:0.0:0.9225	.	296;40;308;486	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	F	91;296;486	ENSP00000395942:I296F;ENSP00000269445:I486F	ENSP00000269445:I486F	I	-	1	0	DYM	45037382	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.925000	0.70062	0.933000	0.37291	0.533000	0.62120	ATC		0.403	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		34	181	0	0	0	1	0	34	181					A	46783384	T	A	46783384	3	1	69	1	0	0	0	0	1	0	0	0	4856	1464	51	5	573	5	DYM	18	46783384	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	33796457	46783384	31293864	129	8605											
ZNF556	80032	broad.mit.edu	37	chr19	2877458	2877458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgataaggcacaaaagaGctcactctggacaaaaatta	7	10	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:2877458G>A	ENST00000307635.2	+	4	589	c.502G>A	c.(502-504)Gct>Act	p.A168T	ZNF556_ENST00000586426.1_Missense_Mutation_p.A167T	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAAAGAGCTCACTCTGG	0.438																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(499-501)Gct>Act		zinc finger protein 556							107	104	105					19																	2877458		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877458G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.502G>A	19.37:g.2877458G>A	ENSP00000302603:p.Ala168Thr					ZNF556_ENST00000307635.2_Missense_Mutation_p.A168T	p.A167T			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	586	+			168					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.499G>A	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666085	0.14710	.	.	ENSG00000172000	ENST00000307635	T	0.00840	5.63	2.27	-0.126	0.13515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00384	0.0012	N	0.00996	-1.065	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42965	-0.9420	9	0.18276	T	0.48	.	2.4888	0.04605	0.6077:0.0:0.1578:0.2345	.	168	Q9HAH1	ZN556_HUMAN	T	168	ENSP00000302603:A168T	ENSP00000302603:A168T	A	+	1	0	ZNF556	2828458	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.042000	0.12063	-0.395000	0.07715	-0.481000	0.04817	GCT		0.438	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		87	440	0	0	0	1	0	87	440					A	2877458	G	A	2877458	3	1	69	1	0	0	0	0	1	0	0	0	18040	971	34	2	516	2	ZNF556	19	2877458	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2877458	56251525	130	8606											
PRR22	163154	broad.mit.edu	37	chr19	5783339	5783339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcccagggacctcgcAcagggtaccctcaggctcag	14	16	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:5783339A>T	ENST00000419421.2	-	3	1023	c.919T>A	c.(919-921)Tgc>Agc	p.C307S		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	307										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGACCTCGCACAGGGTACCC	0.642																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(919-921)Tgc>Agc		proline rich 22							35	39	38					19																	5783339		2199	4293	6492	SO:0001583	missense	163154							g.chr19:5783339A>T	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.919T>A	19.37:g.5783339A>T	ENSP00000407653:p.Cys307Ser						p.C307S	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	1023	-			305					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.919T>A	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	A	7.405	0.633633	0.14322	.	.	ENSG00000212123	ENST00000419421	T	0.41400	1.0	3.52	-2.21	0.06973	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.18263	0.021;0.021	T	0.28522	-1.0041	9	0.07482	T	0.82	.	3.7653	0.08620	0.3513:0.185:0.4637:0.0	.	307;305	E9PB31;Q8IZ63	.;PRR22_HUMAN	S	307	ENSP00000407653:C307S	ENSP00000407653:C307S	C	-	1	0	PRR22	5734339	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.854000	0.01664	-0.314000	0.08716	-0.736000	0.03550	TGC		0.642	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		39	290	0	0	0	1	0	39	290					T	5783339	A	T	5783339	3	4	69	1	0	0	0	0	1	0	0	0	12640	159	6	5	353	5	PRR22	19	5783339	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	2905881	5783339	53345644	131	8607											
C19orf59	199675	broad.mit.edu	37	chr19	7743463	7743463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtcaggagcaagAttgatagattagagacgaca	11	7	2	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:7743463A>G	ENST00000333598.3	+	5	914	c.460A>G	c.(460-462)Att>Gtt	p.I154V	TRAPPC5_ENST00000596148.1_5'Flank|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G|TRAPPC5_ENST00000317378.5_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		154						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGGAGCAAGATTGATAGATT	0.522											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333598.3																			0				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						c.(460-462)Att>Gtt		chromosome 19 open reading frame 59							140	137	138					19																	7743463		2203	4300	6503	SO:0001583	missense	199675					integral to membrane		g.chr19:7743463A>G																												ENST00000333598.3:c.460A>G	19.37:g.7743463A>G	ENSP00000329920:p.Ile154Val		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G	p.I154V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN			5	914	+			154					Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	c.460A>G	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159286	0.01686	.	.	ENSG00000183019	ENST00000333598	T	0.25749	1.78	2.97	-1.59	0.08453	.	1.091820	0.07270	N	0.868924	T	0.08758	0.0217	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37384	-0.9708	10	0.09590	T	0.72	-3.8449	7.6052	0.28097	0.6562:0.0:0.3438:0.0	.	154	Q8IX19	MCEM1_HUMAN	V	154	ENSP00000329920:I154V	ENSP00000329920:I154V	I	+	1	0	C19orf59	7649463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.282000	0.08445	-0.582000	0.05929	-0.119000	0.15052	ATT		0.522	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			43	236	0	0	0	1	0	43	236					G	7743463	A	G	7743463	3	3	69	1	0	0	0	0	1	0	0	0	1947	333	12	4	478	4	C19orf59	19	7743463	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	1960124	7743463	51385520	132	8608											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661292	8661292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacattccgcccaccggggcCaggcctgggaagacggacat	13	15	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:8661292C>A	ENST00000597188.1	-	10	1359	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.L363L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	363	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCGGGGCCAGGCCTGGGA	0.657																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1087-1089)ctG>ctT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							33	32	33					19																	8661292		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661292C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1089G>T	19.37:g.8661292C>A						ADAMTS10_ENST00000597188.1_Silent_p.L363L	p.L363L			Q9H324	ATS10_HUMAN			9	1355	-			363			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1089G>T	CCDS12206.1																																																																																				0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		15	137	1	0	3.45872e-05	1	3.51034e-05	15	137					A	8661292	C	A	8661292	2	1	69	1	0	0	0	0	0	0	0	1	256	581	21	3		3	ADAMTS10	19	8661292	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	917829	8661292	50467691	133	8609											
WDR83	84292	broad.mit.edu	37	chr19	12786384	12786384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccggtgtggtgcagtcGctggcctaccacccaacaga	13	13	0	1	rs142130654	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:12786384G>A	ENST00000418543.3	+	11	1195	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WDR83_ENST00000242796.4_Silent_p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	282					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						TGGTGCAGTCGCTGGCCTACC	0.657											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		15677	0.001		0.001	False		,,,				2504	0.0					ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(844-846)tcG>tcA		WD repeat domain 83		G	,	0,4406		0,0,2203	52	47	49		846,846	-11.8	0.5	19	dbSNP_134	49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	WDR83	NM_001099737.2,NM_032332.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	282/316,282/316	12786384	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12786384G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.846G>A	19.37:g.12786384G>A			OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682	WDR83_ENST00000242796.4_Silent_p.S282S	p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			11	1195	+			282					B2RAF1|Q53FT6	Silent	SNP	ENST00000418543.3	37	c.846G>A	CCDS12275.1																																																																																				0.657	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		33	226	0	0	0	1	0	33	226					A	12786384	G	A	12786384	2	1	69	1	0	0	0	0	0	0	0	1	17386	1074	38	1		1	WDR83	19	12786384	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4125092	12786384	46342599	134	8610											
BRD4	23476	broad.mit.edu	37	chr19	15354198	15354198	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggagcaggggtgtttgggtCaaggctggtgacacggctgg	21	6	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:15354198C>G	ENST00000263377.2	-	14	2903	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	894					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGTTTGGGTCAAGGCTGGTG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2680-2682)ttG>ttC		bromodomain containing 4							9	11	11					19																	15354198		2173	4280	6453	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15354198C>G	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2682G>C	19.37:g.15354198C>G	ENSP00000263377:p.Leu894Phe						p.L894F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		14	2903	-			894					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2682G>C	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	3.540	-0.093932	0.07053	.	.	ENSG00000141867	ENST00000263377	T	0.36157	1.27	4.34	3.26	0.37387	.	0.000000	0.36002	N	0.002844	T	0.32164	0.0820	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.08229	-1.0732	10	0.56958	D	0.05	-13.9508	5.6884	0.17815	0.3:0.4573:0.2427:0.0	.	894	O60885	BRD4_HUMAN	F	894	ENSP00000263377:L894F	ENSP00000263377:L894F	L	-	3	2	BRD4	15215198	0.998000	0.40836	0.826000	0.32828	0.102000	0.19082	0.756000	0.26419	1.945000	0.56424	0.556000	0.70494	TTG		0.682	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		5	65	0	0	0	1	0	5	65					G	15354198	C	G	15354198	3	3	69	1	0	0	0	0	1	0	0	0	1508	825	29	5	1434	5	BRD4	19	15354198	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2567814	15354198	43774785	135	8611											
MYO9B	4650	broad.mit.edu	37	chr19	17311139	17311139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttttctgcataaaaccaagGataaaaaatacagcctggag	7	7	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:17311139G>C	ENST00000594824.1	+	25	4423	c.4276G>C	c.(4276-4278)Gat>Cat	p.D1426H	MYO9B_ENST00000595618.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H			Q13459	MYO9B_HUMAN	myosin IXB	1426	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TAAAACCAAGGATAAAAAATA	0.507																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4276-4278)Gat>Cat		myosin IXB							36	39	38					19																	17311139		1962	4146	6108	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311139G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4276G>C	19.37:g.17311139G>C	ENSP00000471367:p.Asp1426His					MYO9B_ENST00000594824.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H	p.D1426H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			25	4428	+			1426			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4276G>C		.	.	.	.	.	.	.	.	.	.	G	21.5	4.155468	0.78114	.	.	ENSG00000099331	ENST00000397274	D	0.86030	-2.06	4.76	4.76	0.60689	.	0.212611	0.32204	N	0.006434	D	0.90693	0.7080	M	0.63843	1.955	0.43603	D	0.995964	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.87578	0.903;0.903;0.998	D	0.91619	0.5309	10	0.72032	D	0.01	.	14.486	0.67616	0.0:0.0:1.0:0.0	.	1426;1426;1432	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	1426	ENSP00000380444:D1426H	ENSP00000380444:D1426H	D	+	1	0	MYO9B	17172139	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.736000	0.62059	2.193000	0.70182	0.491000	0.48974	GAT		0.507	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			9	105	0	0	0	1	0	9	105					C	17311139	G	C	17311139	3	2	69	1	0	0	0	0	1	0	0	0	10126	1174	41	5	4370	5	MYO9B	19	17311139	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1956941	17311139	41817844	136	8612											
LSM14A	26065	broad.mit.edu	37	chr19	34685499	34685499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttactgtttgtgagCcaccaaaaccacagtgttct	7	11	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:34685499C>T	ENST00000433627.5	+	2	313	c.238C>T	c.(238-240)Cca>Tca	p.P80S	LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000544216.3_Missense_Mutation_p.P80S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	80					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGTTTGTGAGCCACCAAAACC	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(238-240)Cca>Tca		LSM14A, SCD6 homolog A (S. cerevisiae)							219	186	197					19																	34685499		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685499C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.238C>T	19.37:g.34685499C>T	ENSP00000413964:p.Pro80Ser					LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000433627.5_Missense_Mutation_p.P80S	p.P80S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	315	+	Esophageal squamous(110;0.162)		80					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.238C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619262	0.87460	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.33216	1.42;1.42;1.45	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.54323	1.7	0.80722	D	1	P;D;D	0.69078	0.624;0.997;0.995	P;D;D	0.68192	0.525;0.932;0.956	T	0.32481	-0.9905	10	0.33940	T	0.23	-0.7743	19.5786	0.95455	0.0:1.0:0.0:0.0	.	80;80;80	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	80	ENSP00000446271:P80S;ENSP00000413964:P80S;ENSP00000446451:P80S	ENSP00000314768:P80S	P	+	1	0	LSM14A	39377339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.711000	0.92665	0.655000	0.94253	CCA		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		90	611	0	0	0	1	0	90	611					T	34685499	C	T	34685499	3	4	69	1	0	0	0	0	1	0	0	0	9092	739	26	2	244	2	LSM14A	19	34685499	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	17374360	34685499	24443484	137	8613											
MAP3K10	4294	broad.mit.edu	37	chr19	40711993	40711993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccccgggtccgcaagcGcaagggcaacttcaagcgca	13	14	1	0	rs371667509		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:40711993G>A	ENST00000253055.3	+	5	1652	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	455	Arg/Lys-rich (basic).				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTCCGCAAGCGCAAGGGCAAC	0.672																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1363-1365)cGc>cAc		mitogen-activated protein kinase kinase kinase 10		G	HIS/ARG	0,4404		0,0,2202	22	23	23		1364	4.5	1	19		23	1,8599		0,1,4299	no	missense	MAP3K10	NM_002446.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	455/955	40711993	1,13003	2202	4300	6502	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40711993G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1364G>A	19.37:g.40711993G>A	ENSP00000253055:p.Arg455His						p.R455H	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			5	1652	+			455			Arg/Lys-rich (basic).		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1364G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010501	0.93346	0.0	1.16E-4	ENSG00000130758	ENST00000253055	T	0.12672	2.66	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.80508	2.5	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	15.1095	0.72343	0.0:0.0:1.0:0.0	.	455	Q02779	M3K10_HUMAN	H	455	ENSP00000253055:R455H	ENSP00000253055:R455H	R	+	2	0	MAP3K10	45403833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.803000	0.99136	2.204000	0.70986	0.491000	0.48974	CGC		0.672	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		31	128	0	0	0	1	0	31	128					A	40711993	G	A	40711993	3	1	69	1	0	0	0	0	1	0	0	0	9285	1087	38	1	1382	1	MAP3K10	19	40711993	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	6026494	40711993	18416990	138	8614											
TMEM91	641649	broad.mit.edu	37	chr19	41884321	41884321	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgagctggggtcccccttaaGagagatagcctttgccgagt	13	10	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:41884321G>C	ENST00000392002.2	+	2	767	c.107G>C	c.(106-108)aGa>aCa	p.R36T	BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|TMEM91_ENST00000539627.1_Missense_Mutation_p.R36T|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R36T|CTC-435M10.3_ENST00000604424.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	36					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TCCCCCTTAAGAGAGATAGCC	0.612																																						ENST00000540732.1																			0											c.(106-108)aGa>aCa									75	76	76					19																	41884321		1886	4128	6014	SO:0001583	missense	0							g.chr19:41884321G>C	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.107G>C	19.37:g.41884321G>C	ENSP00000375859:p.Arg36Thr					TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|TMEM91_ENST00000539627.1_Missense_Mutation_p.R36T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000392002.2_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T	p.R36T							2	234	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.107G>C	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571696	0.13623	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000546050;ENST00000540732	D;D	0.97870	-3.71;-4.58	4.22	0.558	0.17266	.	1.027160	0.07754	N	0.948972	D	0.93207	0.7836	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.012;0.0;0.001;0.012	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.002;0.003;0.001;0.001;0.004	D	0.87025	0.2131	10	0.62326	D	0.03	.	5.6687	0.17711	0.1153:0.418:0.4667:0.0	.	36;36;36;36;36;36;36	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	T	36;36;36;36;36;36;36;36;36;36;22;36	ENSP00000375859:R36T;ENSP00000443246:R36T	ENSP00000443246:R36T	R	+	2	0	CTC-435M10.3;TMEM91	46576161	0.011000	0.17503	0.077000	0.20336	0.192000	0.23643	0.330000	0.19715	0.517000	0.28361	0.561000	0.74099	AGA		0.612	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			32	601	0	0	0	1	0	32	601					C	41884321	G	C	41884321	3	2	69	1	0	0	0	0	1	0	0	0	16272	942	33	5	109	5	TMEM91	19	41884321	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1172328	41884321	17244662	139	8615											
BCAM	4059	broad.mit.edu	37	chr19	45315574	45315574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccaggtgggcgacgAgcgagactacgtgtgcgtgg	19	9	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:45315574A>C	ENST00000270233.6	+	3	381	c.359A>C	c.(358-360)gAg>gCg	p.E120A	BCAM_ENST00000589651.1_Missense_Mutation_p.E120A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	120	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGGGCGACGAGCGAGACTAC	0.682																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(358-360)gAg>gCg		basal cell adhesion molecule (Lutheran blood group)							24	28	27					19																	45315574		2203	4298	6501	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45315574A>C	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.359A>C	19.37:g.45315574A>C	ENSP00000270233:p.Glu120Ala					BCAM_ENST00000270233.6_Missense_Mutation_p.E120A	p.E120A			P50895	BCAM_HUMAN			3	403	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	120			Ig-like V-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.359A>C	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245746	0.22796	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.26223	1.75;1.75	3.43	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21761	0.0524	L	0.29908	0.895	0.27355	N	0.95613	P	0.36874	0.572	B	0.43754	0.43	T	0.16012	-1.0417	9	0.42905	T	0.14	-14.82	5.7766	0.18283	0.8682:0.0:0.1318:0.0	.	120	P50895	BCAM_HUMAN	A	120	ENSP00000270233:E120A;ENSP00000375817:E120A	ENSP00000270233:E120A	E	+	2	0	BCAM	50007414	1.000000	0.71417	0.691000	0.30163	0.294000	0.27393	1.634000	0.37123	0.456000	0.26937	0.260000	0.18958	GAG		0.682	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		13	208	0	0	0	1	0	13	208					C	45315574	A	C	45315574	3	2	69	1	0	0	0	0	1	0	0	0	1345	304	11	4	369	4	BCAM	19	45315574	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	3431253	45315574	13813409	140	8616											
LHB	3972	broad.mit.edu	37	chr19	49520322	49520322	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggccctgtagtcttAcctggagcatctccatcctt	9	15	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:49520322A>C	ENST00000221421.2	-	1	15		c.e1+1		CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide						cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGTAGTCTTACCTGGAGCAT	0.602																																						ENST00000221421.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.e1+1		luteinizing hormone beta polypeptide	Lutropin alfa(DB00044)|Menotropins(DB00032)						243	198	213					19																	49520322		2203	4300	6503	SO:0001630	splice_region_variant	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49520322A>C		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.15+1T>G	19.37:g.49520322A>C								NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	15	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						Q9UDI0	Splice_Site	SNP	ENST00000221421.2	37		CCDS12748.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505370	0.26949	.	.	ENSG00000104826	ENST00000221421	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1486	0.36948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHB	54212134	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.488000	0.45276	1.736000	0.51660	0.379000	0.24179	.		0.602	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894	Intron	80	921	0	0	0	1	0	80	921					C	49520322	A	C	49520322	5	2	69	1	0	0	0	0	0	0	1	0	8793	405	14	4	420	4	LHB	19	49520322	Splice_Site	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	4204748	49520322	9608661	141	8617											
KLK8	11202	broad.mit.edu	37	chr19	51503919	51503919	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccactgtgggttcaaatgGacacacggcaagttctccgc	12	12	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:51503919G>A	ENST00000600767.1	-	4	560				KLK8_ENST00000291726.7_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000391806.2_Silent_p.V42V|KLK9_ENST00000376832.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTCAAATGGACACACGGCA	0.587																																						ENST00000391806.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(124-126)gtC>gtT		kallikrein-related peptidase 8							77	77	77					19																	51503919		2203	4300	6503	SO:0001627	intron_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503919G>A	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-80C>T	19.37:g.51503919G>A						KLK8_ENST00000291726.7_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron	p.V42V			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	3	206	-		all_neural(266;0.026)	23			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.126C>T	CCDS12813.1																																																																																				0.587	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		38	401	0	0	0	1	0	38	401					A	51503919	G	A	51503919	1	1	69	0	1	0	0	0	0	0	0	0	8440	1161	41	2		2	KLK8	19	51503919	Intron	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1983597	51503919	7625064	142	8618											
ZNF615	284370	broad.mit.edu	37	chr19	52497760	52497760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgttgcttaatgaacTgggacttattaataggtttt	8	5	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:52497760T>C	ENST00000602063.1	-	6	918	c.569A>G	c.(568-570)cAg>cGg	p.Q190R	ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	190					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTAATGAACTGGGACTTATT	0.363																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(568-570)cAg>cGg		zinc finger protein 615							188	189	189					19																	52497760		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497760T>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.569A>G	19.37:g.52497760T>C	ENSP00000473089:p.Gln190Arg					ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R	p.Q190R			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	918	-		all_neural(266;0.117)	190					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.569A>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	9.187	1.025164	0.19433	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07567	3.2;3.18	3.2	-0.408	0.12381	.	.	.	.	.	T	0.04497	0.0123	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.29037	0.089;0.231;0.231;0.089	B;B;B;B	0.27796	0.038;0.083;0.083;0.038	T	0.45760	-0.9239	9	0.21540	T	0.41	.	5.0526	0.14516	0.3115:0.0:0.1615:0.527	.	195;197;201;190	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	R	190;200;195;200	ENSP00000365906:Q190R;ENSP00000375672:Q195R	ENSP00000347019:Q200R	Q	-	2	0	ZNF615	57189572	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.644000	0.24766	-0.316000	0.08690	0.533000	0.62120	CAG		0.363	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		119	854	0	0	0	1	0	119	854					C	52497760	T	C	52497760	3	2	69	1	0	0	0	0	1	0	0	0	18093	1580	55	4	1630	4	ZNF615	19	52497760	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	993841	52497760	6631223	143	8619											
EPS8L1	54869	broad.mit.edu	37	chr19	55597500	55597501	+	Frame_Shift_Ins	INS	-	-	A													agggatatgtgccctacaacINSatcctgacaccctaccccgg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55597500_55597501insA	ENST00000201647.6	+	16	1646_1647	c.1590_1591insA	c.(1591-1593)atcfs	p.I531fs	EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.I217fs|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.I404fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.I467fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	531	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCCCTACAACATCCTGACACC	0.629																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1588-1593)aatcctfs		EPS8-like 1																																				SO:0001589	frameshift_variant	54869					cytoplasm		g.chr19:55597500_55597501insA	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1591dupA	19.37:g.55597501_55597501dupA	ENSP00000201647:p.Ile531fs					EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.NP403fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.NP466fs|EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.NP216fs	p.NP530fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	16	1646_1647	+			530			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Ins	INS	ENST00000201647.6	37	c.1590_1591insA	CCDS12914.1																																																																																				0.629	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		22	492						22	492	---	---	---	---	A	55597501	-	A	55597500	7	5	69	1	0	1	1	0	0	0	0	0	5213	477	17	0	1700	0	EPS8L1	19	55597500	Frame_Shift_Ins	INS	-	TCGA-HZ-7918-01A-11D-2154-08	3099740	55597500	3531483	144	8620											
C19orf51	352909	broad.mit.edu	37	chr19	55670960	55670961	+	In_Frame_Ins	INS	-	-	AGA													aggccccaagctcagggatgINSagaagatggaccatactgca							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55670960_55670961insAGA	ENST00000524407.2	-	11	1211_1212	c.1178_1179insTCT	c.(1177-1179)ctc>ctTCTc	p.393_393L>LL	DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000527223.2_In_Frame_Ins_p.460_460L>LL|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_In_Frame_Ins_p.339_339L>LL|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000391720.4_In_Frame_Ins_p.440_440L>LL|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.4_ENST00000587871.1_In_Frame_Ins_p.54_55insS			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	393					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCTCAGGGATGAGAAGATGGAC	0.599																																						ENST00000527223.2																			0											c.(1378-1380)cat>cTCTat		dynein, axonemal, assembly factor 3																																				SO:0001652	inframe_insertion	352909							g.chr19:55670960_55670961insAGA	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1176_1178dupTCT	19.37:g.55670964_55670966dupAGA	ENSP00000432046:p.Leu393dup					CTD-2587H24.4_ENST00000587871.1_In_Frame_Ins_p.54_55SS>SLS|DNAAF3_ENST00000391720.4_In_Frame_Ins_p.440_440H>LY|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_In_Frame_Ins_p.393_393H>LY|DNAAF3_ENST00000455045.1_In_Frame_Ins_p.339_339H>LY|DNAAF3_ENST00000587789.2_5'UTR	p.460_460H>LY	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			11	1380_1381	-			393					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	In_Frame_Ins	INS	ENST00000524407.2	37	c.1379_1380insTCT	CCDS59422.1																																																																																				0.599	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		9	813						9	813	---	---	---	---	AGA	55670961	-	AGA	55670960	7	5	69	1	0	1	1	0	0	0	0	0	1940	1277	45	0	454	0	C19orf51	19	55670960	In_Frame_Ins	INS	-	TCGA-HZ-7918-01A-11D-2154-08	73460	55670960	3458023	145	8621											
NLRP5	126206	broad.mit.edu	37	chr19	56565133	56565133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggttgctgcgctgtgCgagggactgaagcaaaagaa	18	6	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56565133C>T	ENST00000390649.3	+	13	3258	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1086					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGCGCTGTGCGAGGGACTGA	0.622																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3256-3258)tgC>tgT		NLR family, pyrin domain containing 5							95	99	98					19																	56565133		2101	4218	6319	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56565133C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3258C>T	19.37:g.56565133C>T							p.C1086C	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	13	3258	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1086					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.3258C>T	CCDS12938.1																																																																																				0.622	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		47	308	0	0	0	1	0	47	308					T	56565133	C	T	56565133	2	4	69	1	0	0	0	0	0	0	0	1	10522	776	27	1		1	NLRP5	19	56565133	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	894173	56565133	2563850	146	8622											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701318	56701318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgggtgcgctggtgaaCgttcaggttccccttgtggc	17	9	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56701318C>T	ENST00000586855.2	-	5	1679	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	456					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)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1366-1368)Gtt>Att		zinc finger and SCAN domain containing 5B							90	91	91					19																	56701318		2090	4246	6336	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701318C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1366G>A	19.37:g.56701318C>T	ENSP00000466072:p.Val456Ile					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I	p.V456I			A6NJL1	ZSA5B_HUMAN			5	1679	-			456						Missense_Mutation	SNP	ENST00000586855.2	37	c.1366G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457212	0.12342	.	.	ENSG00000197213	ENST00000358992	T	0.35973	1.28	3.57	-0.0824	0.13698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	N	0.22421	0.69	0.09310	N	1	P	0.47350	0.894	B	0.36808	0.233	T	0.16012	-1.0417	9	0.56958	D	0.05	.	0.8009	0.01075	0.1894:0.3971:0.1855:0.2281	.	456	A6NJL1	ZSA5B_HUMAN	I	456	ENSP00000351883:V456I	ENSP00000351883:V456I	V	-	1	0	ZSCAN5B	61393130	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.153000	0.01287	-0.021000	0.14009	-0.384000	0.06662	GTT		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		11	248	0	0	0	1	0	11	248					T	56701318	C	T	56701318	3	4	69	1	0	0	0	0	1	0	0	0	18292	536	19	1	125	1	ZSCAN5B	19	56701318	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	136185	56701318	2427665	147	8623											
STK4	6789	broad.mit.edu	37	chr20	43703783	43703783	+	Missense_Mutation	SNP	T	T	A													gcagcccatcctggatgccaTagaggctaagaagagacggc					rs201001614		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703783T>A	ENST00000372806.3	+	11	1525	c.1430T>A	c.(1429-1431)aTa>aAa	p.I477K	STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	477	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTGGATGCCATAGAGGCTAAG	0.572																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1429-1431)aTa>aAa		serine/threonine kinase 4							43	42	43					20																	43703783		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703783T>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1430T>A	20.37:g.43703783T>A	ENSP00000361892:p.Ile477Lys					STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR	p.I477K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1525	+		Myeloproliferative disorder(115;0.0122)	477			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1430T>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448883	0.84101	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74947	-0.89;0.09	5.99	3.72	0.42706	SARAH domain (1);SARAH (1);	0.102004	0.64402	D	0.000012	D	0.82751	0.5105	M	0.75777	2.31	0.80722	D	1	D;D	0.60575	0.986;0.988	D;D	0.69654	0.94;0.965	T	0.83048	-0.0154	10	0.87932	D	0	.	8.4572	0.32906	0.0:0.0674:0.1329:0.7997	.	422;477	F5H5B4;Q13043	.;STK4_HUMAN	K	477;422	ENSP00000361892:I477K;ENSP00000443514:I422K	ENSP00000361892:I477K	I	+	2	0	STK4	43137197	1.000000	0.71417	0.938000	0.37757	0.961000	0.63080	5.914000	0.69964	1.061000	0.40601	0.533000	0.62120	ATA		0.572	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		11	216	0	0	0	1	0	11	216					A	43703783	T	A	43703783	3	1	69	1	0	0	0	0	1	0	0	0	15358	1406	49	5	1472	5	STK4	20	43703783	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		43703783	19321737	148	8624	58	2									
STK4	6789	broad.mit.edu	37	chr20	43703792	43703792	+	Missense_Mutation	SNP	A	A	T													cctggatgccatagaggctaAgaagagacggcaacaaaact							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703792A>T	ENST00000372806.3	+	11	1534	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	480	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATAGAGGCTAAGAAGAGACGG	0.562																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1438-1440)aAg>aTg		serine/threonine kinase 4							41	41	41					20																	43703792		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703792A>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1439A>T	20.37:g.43703792A>T	ENSP00000361892:p.Lys480Met					STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR	p.K480M	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1534	+		Myeloproliferative disorder(115;0.0122)	480			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1439A>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900543	0.92035	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.79454	-1.27;-0.4	5.99	5.99	0.97316	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90456	0.4442	10	0.87932	D	0	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	425;480	F5H5B4;Q13043	.;STK4_HUMAN	M	480;425	ENSP00000361892:K480M;ENSP00000443514:K425M	ENSP00000361892:K480M	K	+	2	0	STK4	43137206	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.893000	0.92498	2.296000	0.77279	0.533000	0.62120	AAG		0.562	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		10	211	0	0	0	1	0	10	211					T	43703792	A	T	43703792	3	4	69	1	0	0	0	0	1	0	0	0	15358	72	3	5	1481	5	STK4	20	43703792	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	9	43703792	19321728	149	8625	58	2									
SLC17A9	63910	broad.mit.edu	37	chr20	61591929	61591929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagccttcacctacagCatcgtgggcgccggctccca	12	16	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:61591929C>T	ENST00000370351.4	+	4	602	c.471C>T	c.(469-471)agC>agT	p.S157S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.S151S	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	157					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCACCTACAGCATCGTGGGCG	0.652																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(451-453)agC>agT		solute carrier family 17 (vesicular nucleotide transporter), member 9							49	58	55					20																	61591929		1971	4152	6123	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61591929C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.471C>T	20.37:g.61591929C>T						SLC17A9_ENST00000370351.4_Silent_p.S157S|SLC17A9_ENST00000488738.1_3'UTR	p.S151S			Q9BYT1	S17A9_HUMAN			5	657	+			157					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.453C>T	CCDS42901.1																																																																																				0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		17	157	0	0	0	1	0	17	157					T	61591929	C	T	61591929	2	4	69	1	0	0	0	0	0	0	0	1	14474	709	25	2		2	SLC17A9	20	61591929	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	17888137	61591929	1433591	150	8626											
OPRL1	4987	broad.mit.edu	37	chr20	62729444	62729444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtcaatgtggccatcTgggccctggcctctgttgtc	13	12	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:62729444T>A	ENST00000349451.3	+	5	935	c.523T>A	c.(523-525)Tgg>Agg	p.W175R	OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	175					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTGGCCATCTGGGCCCTGGC	0.627																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(523-525)Tgg>Agg		opiate receptor-like 1							97	86	90					20																	62729444		2203	4296	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729444T>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.523T>A	20.37:g.62729444T>A	ENSP00000336764:p.Trp175Arg					OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R	p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	935	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		175					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.523T>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796426	0.70567	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	D;D;D	0.88896	-2.44;-2.44;-2.44	5.0	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.062472	0.64402	N	0.000001	D	0.96864	0.8976	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96110	0.9076	10	0.87932	D	0	.	10.6469	0.45626	0.0:0.0765:0.0:0.9235	.	170;175	P41146-2;P41146	.;OPRX_HUMAN	R	175	ENSP00000336843:W175R;ENSP00000347848:W175R;ENSP00000336764:W175R	ENSP00000336843:W175R	W	+	1	0	OPRL1	62199888	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.942000	0.63547	0.764000	0.33197	0.369000	0.22263	TGG		0.627	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		49	488	0	0	0	1	0	49	488					A	62729444	T	A	62729444	3	1	69	1	0	0	0	0	1	0	0	0	10928	1580	55	5	529	5	OPRL1	20	62729444	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	1137515	62729444	296076	151	8627											
LSS	4047	broad.mit.edu	37	chr21	47614458	47614458	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttatggatctgggactgGgcactctgcaaataacgccg	13	9	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr21:47614458G>T	ENST00000397728.3	-	20	2013	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A|LSS_ENST00000522411.1_Silent_p.A634A|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	645					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTGGGACTGGGCACTCTGCA	0.632																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1933-1935)gcC>gcA		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							104	82	90					21																	47614458		2203	4300	6503	SO:0001819	synonymous_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47614458G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1935C>A	21.37:g.47614458G>T						LSS_ENST00000522411.1_Silent_p.A634A|LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A	p.A645A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			20	2013	-	Breast(49;0.214)		645					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	c.1935C>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779646	0.02929	.	.	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.18	0.20946	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.22873	N	0.998627	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	.	5.5508	0.17089	0.282:0.0:0.5927:0.1253	.	.	.	.	T	13	.	.	P	-	1	0	LSS	46438886	0.003000	0.15002	0.004000	0.12327	0.120000	0.20174	0.464000	0.21988	0.009000	0.14813	-0.727000	0.03589	CCA		0.632	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			41	147	1	0	4.92203e-23	1	5.31266e-23	41	147					T	47614458	G	T	47614458	2	4	69	1	0	0	0	0	0	0	0	1	9103	1219	43	3		3	LSS	21	47614458	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		47614458	515437	152	8628											
TIMP1	7076	broad.mit.edu	37	chrX	47446054	47446054	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgggagccagggctGtgcacctggcagtccctgcg	15	15	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:47446054G>C	ENST00000218388.4	+	6	758	c.588G>C	c.(586-588)ctG>ctC	p.L196L	SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|MIR4769_ENST00000584126.1_RNA|TIMP1_ENST00000377017.1_Silent_p.L132L	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	196					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						AGCCAGGGCTGTGCACCTGGC	0.612																																						ENST00000218388.4																			0				endometrium(1)|large_intestine(2)	3						c.(586-588)ctG>ctC		TIMP metallopeptidase inhibitor 1							72	57	63					X																	47446054		2203	4300	6503	SO:0001819	synonymous_variant	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47446054G>C		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.588G>C	X.37:g.47446054G>C						SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Silent_p.L132L	p.L196L	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN			6	758	+			196					Q14252|Q9UCU1	Silent	SNP	ENST00000218388.4	37	c.588G>C	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855188	0.17106	.	.	ENSG00000102265	ENST00000445623	.	.	.	5.23	2.08	0.27032	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	.	6.0618	0.19842	0.1181:0.2872:0.5947:0.0	.	.	.	.	S	154	.	.	C	+	2	0	TIMP1	47330998	0.949000	0.32298	0.940000	0.37924	0.878000	0.50629	0.087000	0.14958	0.928000	0.37168	0.523000	0.50628	TGT		0.612	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		12	201	0	0	0	1	0	12	201					C	47446054	G	C	47446054	2	2	69	1	0	0	0	0	0	0	0	1	15969	1364	48	5		5	TIMP1	23	47446054	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		47446054	107824506	153	8629											
GLOD5	392465	broad.mit.edu	37	chrX	48624245	48624245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttttctttttttagtcatgGagggacagcagtcagacccc	9	9	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48624245G>T	ENST00000303227.6	+	2	110	c.69G>T	c.(67-69)tgG>tgT	p.W23C	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	23										endometrium(1)|lung(2)	3						TTTAGTCATGGAGGGACAGCA	0.473																																						ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(67-69)tgG>tgT		glyoxalase domain containing 5							52	42	45					X																	48624245		1937	4122	6059	SO:0001583	missense	392465							g.chrX:48624245G>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.69G>T	X.37:g.48624245G>T	ENSP00000302552:p.Trp23Cys					GLOD5_ENST00000470676.1_3'UTR	p.W23C	NM_001080489.2	NP_001073958.2					2	110	+									Missense_Mutation	SNP	ENST00000303227.6	37	c.69G>T	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	g	15.29	2.788427	0.49997	.	.	ENSG00000171433	ENST00000303227	.	.	.	4.59	2.76	0.32466	.	0.885835	0.09943	N	0.735617	T	0.35770	0.0943	L	0.36672	1.1	0.25045	N	0.991171	D;D	0.58620	0.983;0.981	P;P	0.51193	0.533;0.662	T	0.12528	-1.0544	9	0.38643	T	0.18	.	6.9832	0.24713	0.1047:0.1779:0.7173:0.0	.	11;20	A6NK44;C9J7J3	GLOD5_HUMAN;.	C	23	.	ENSP00000302552:W23C	W	+	3	0	GLOD5	48509189	0.952000	0.32445	0.318000	0.25279	0.186000	0.23388	1.907000	0.39897	1.054000	0.40438	0.464000	0.42555	TGG		0.473	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		5	65	1	0	1	1	1	5	65					T	48624245	G	T	48624245	3	4	69	1	0	0	0	0	1	0	0	0	6480	1183	41	3	75	3	GLOD5	23	48624245	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1178191	48624245	106646315	154	8630											
WDR45	11152	broad.mit.edu	37	chrX	48932556	48932556	+	Missense_Mutation	SNP	C	C	T													agacatatttgtggaaggtcCcatctacgcagatggctggg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932556C>T	ENST00000376372.3	-	11	1170	c.989G>A	c.(988-990)gGg>gAg	p.G330E	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Nonsense_Mutation_p.W247*|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	330					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTGGAAGGTCCCATCTACGCA	0.537																																						ENST00000473974.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(739-741)tgG>tgA		WD repeat domain 45							66	65	65					X																	48932556		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932556C>T	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.989G>A	X.37:g.48932556C>T	ENSP00000365551:p.Gly330Glu					WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E|WDR45_ENST00000376372.3_Missense_Mutation_p.G330E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|WDR45_ENST00000553851.1_Intron	p.W247*			Q9Y484	WIPI4_HUMAN			9	879	-			247					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	ENST00000376372.3	37	c.741G>A	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.518097|4.518097	0.85495|0.85495	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375;ENST00000473974;ENST00000475977	D;D;D;D;D;D|.	0.86627|.	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77445|.	0.4131|.	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.994|.	T|.	0.79050|.	-0.1962|.	10|.	0.87932|.	D|.	0|.	-13.1114|-13.1114	16.6575|16.6575	0.85232|0.85232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341;295;331;330|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	E|X	330;341;331;295;331;316|50;256;247;109	ENSP00000365551:G330E;ENSP00000365543:G341E;ENSP00000348848:G331E;ENSP00000419897:G295E;ENSP00000365546:G331E;ENSP00000379913:G316E|.	ENSP00000365543:G341E|.	G|W	-|-	2|3	0|0	WDR45|WDR45	48819500|48819500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.234000|7.234000	0.78134|0.78134	2.392000|2.392000	0.81423|0.81423	0.600000|0.600000	0.82982|0.82982	GGG|TGG		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		20	291	0	0	0	1	0	20	291					T	48932556	C	T	48932556	3	4	69	1	0	0	0	0	1	0	0	0	17351	623	22	2	97	2	WDR45	23	48932556	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	308311	48932556	106338004	155	8631	59	2									
WDR45	11152	broad.mit.edu	37	chrX	48932560	48932560	+	Missense_Mutation	SNP	C	C	G													atatttgtggaaggtcccatCtacgcagatggctgggggag							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932560C>G	ENST00000376372.3	-	11	1166	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000356463.3_Missense_Mutation_p.D330H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	329					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AAGGTCCCATCTACGCAGATG	0.537																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(988-990)Gat>Cat		WD repeat domain 45							60	59	59					X																	48932560		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932560C>G	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.985G>C	X.37:g.48932560C>G	ENSP00000365551:p.Asp329His					WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H|WDR45_ENST00000376372.3_Missense_Mutation_p.D329H|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|WDR45_ENST00000553851.1_Intron	p.D330H	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			12	1426	-			329					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.988G>C	CCDS35250.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.82|17.82|17.82	3.483550|3.483550|3.483550	0.63962|0.63962|0.63962	.|.|.	.|.|.	ENSG00000196998|ENSG00000196998|ENSG00000196998	ENST00000486337|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000367375;ENST00000473974;ENST00000475977	.|D;D;D;D;D;D|T;T	.|0.81659|0.79033	.|-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|-1.23;-0.07	4.98|4.98|4.98	4.12|4.12|4.12	0.48240|0.48240|0.48240	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.76026|0.76026	.|0.3930|0.3930	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|B	.|0.89917|0.02656	.|1.0;1.0;1.0;1.0|0.0	.|D;D;D;D|B	.|0.87578|0.01281	.|0.998;0.992;0.996;0.985|0.0	.|T|T	.|0.71368|0.71368	.|-0.4614|-0.4614	.|10|8	.|0.87932|.	.|D|.	.|0|.	.|-10.0566|-10.0566	11.9902|11.9902|11.9902	0.53171|0.53171|0.53171	0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09	.|.|.	.|340;294;330;329|246	.|Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|C9J471	.|.;.;.;WIPI4_HUMAN|.	.|H|T	-1|329;340;330;294;330;315|255;246;108	.|ENSP00000365551:D329H;ENSP00000365543:D340H;ENSP00000348848:D330H;ENSP00000419897:D294H;ENSP00000365546:D330H;ENSP00000379913:D315H|ENSP00000417211:R246T;ENSP00000417754:R108T	.|ENSP00000365543:D340H|.	.|D|R	-|-|-	.|1|2	.|0|0	WDR45|WDR45|WDR45	48819504|48819504|48819504	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.234000|7.234000|7.234000	0.78134|0.78134|0.78134	1.169000|1.169000|1.169000	0.42739|0.42739|0.42739	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	.|GAT|AGA		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		18	278	0	0	0	1	0	18	278					G	48932560	C	G	48932560	3	3	69	1	0	0	0	0	1	0	0	0	17351	913	32	5	101	5	WDR45	23	48932560	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4	48932560	106338000	156	8632	59	2									
TRPC5	7224	broad.mit.edu	37	chrX	111090417	111090418	+	Frame_Shift_Ins	INS	-	-	C													atcgatagctctggtttcatINSaatagaagtaaagctggttc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:111090417_111090418insC	ENST00000262839.2	-	6	2542_2543	c.1624_1625insG	c.(1624-1626)tatfs	p.Y542fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	542					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGGTTTCATAATAGAAGTAA	0.441																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1624-1626)tgafs		transient receptor potential cation channel, subfamily C, member 5																																				SO:0001589	frameshift_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090417_111090418insC	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1624_1625insG	X.37:g.111090417_111090418insC	ENSP00000262839:p.Tyr542fs						p.*542fs	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2542_2543	-			542					B2RP53|O75233|Q5JXY8|Q9Y514	Frame_Shift_Ins	INS	ENST00000262839.2	37	c.1624_1625insG	CCDS14561.1																																																																																				0.441	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		7	486						7	486	---	---	---	---	C	111090418	-	C	111090417	7	5	69	1	0	1	1	0	0	0	0	0	16635	1406	49	0	1320	0	TRPC5	23	111090417	Frame_Shift_Ins	INS	-	TCGA-HZ-7918-01A-11D-2154-08	62157857	111090417	44180143	157	8633											
AGTR2	186	broad.mit.edu	37	chrX	115303595	115303595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccagcggtcttcacttcgGgcttgtgaacatctctggca	10	12	3	1	rs121917810	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:115303595G>T	ENST00000371906.4	+	3	252	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	21			G -> V (rare variant found in patients with X-linked mental retardation; unknown pathological significance; dbSNP:rs121917810). {ECO:0000269|PubMed:12089445}.		aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CTTCACTTCGGGCTTGTGAAC	0.413													G|||	3	0.000794702	0.0	0.0	3775	,	,		13495	0.0		0.002	False		,,,				2504	0.001					ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24	GRCh37	CM021241	AGTR2	M	rs121917810	c.(61-63)gGg>gTg		angiotensin II receptor, type 2		G	VAL/GLY	2,3833		0,2,0,1630,571	97	84	88	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	62	3.6	0	X	dbSNP_133	88	31,6697		0,21,10,2407,1862	yes	missense	AGTR2	NM_000686.4	109	0,23,10,4037,2433	TT,TG,T,GG,G		0.4608,0.0522,0.3124	benign	21/364	115303595	33,10530	2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303595G>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.62G>T	X.37:g.115303595G>T	ENSP00000360973:p.Gly21Val						p.G21V	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	252	+			21					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.62G>T	CCDS14569.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.023	-1.397364	0.01175	5.22E-4	0.004608	ENSG00000180772	ENST00000371906	T	0.69561	-0.41	3.6	3.6	0.41247	.	0.816960	0.10552	N	0.661402	T	0.45836	0.1362	N	0.08118	0	0.18873	A	1.31539e-05	B	0.02656	0.0	B	0.01281	0.0	T	0.50004	-0.8878	9	0.36615	T	0.2	-0.1329	9.8249	0.40905	0.0:0.0:1.0:0.0	.	21	P50052	AGTR2_HUMAN	V	21	ENSP00000360973:G21V	ENSP00000360973:G21V	G	+	2	0	AGTR2	115217623	0.000000	0.05858	0.011000	0.14972	0.032000	0.12392	0.242000	0.18087	1.661000	0.50771	0.506000	0.49869	GGG		0.413	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		34	228	1	0	2.42023e-17	1	2.5715e-17	34	228					T	115303595	G	T	115303595	3	4	69	1	0	0	0	0	1	0	0	0	402	1232	43	3	64	3	AGTR2	23	115303595	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4213178	115303595	39966965	158	8634											
SMARCA1	6594	broad.mit.edu	37	chrX	128624058	128624058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttgtataacaattgaatCgagtctcagttttatctcag	7	6	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128624058C>T	ENST00000371122.4	-	15	2056	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	643	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACAATTGAATCGAGTCTCAGT	0.328																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1927-1929)Gat>Aat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							114	96	102					X																	128624058		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624058C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1927G>A	X.37:g.128624058C>T	ENSP00000360163:p.Asp643Asn					SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N	p.D643N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2056	-			643			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1927G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153859	0.94645	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.97253	0.9102	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.995;0.998;0.995	D	0.98047	1.0385	10	0.87932	D	0	-17.4212	18.1631	0.89716	0.0:1.0:0.0:0.0	.	622;643;631;643	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	631;631;643;622	ENSP00000360162:D631N;ENSP00000360164:D631N;ENSP00000360163:D643N;ENSP00000404275:D622N	ENSP00000360162:D631N	D	-	1	0	SMARCA1	128451739	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAT		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		26	84	0	0	0	1	0	26	84					T	128624058	C	T	128624058	3	4	69	1	0	0	0	0	1	0	0	0	14818	884	31	1	1277	1	SMARCA1	23	128624058	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	13320463	128624058	26646502	159	8635											
OCRL	4952	broad.mit.edu	37	chrX	128696369	128696369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaactcataggttcaactGgtgcgccttgttgggatgat	13	8	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128696369G>A	ENST00000371113.4	+	11	1113	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OCRL_ENST00000357121.5_Silent_p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	316	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTTCAACTGGTGCGCCTTG	0.403																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(946-948)ctG>ctA		oculocerebrorenal syndrome of Lowe							176	157	164					X																	128696369		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696369G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.948G>A	X.37:g.128696369G>A						OCRL_ENST00000357121.5_Silent_p.L316L	p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			11	1113	+			316					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.948G>A	CCDS35393.1																																																																																				0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		85	328	0	0	0	1	0	85	328					A	128696369	G	A	128696369	2	1	69	1	0	0	0	0	0	0	0	1	10865	1335	47	2		2	OCRL	23	128696369	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	72311	128696369	26574191	160	8636											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	518						8	518	---	---	---	---	-	150817144	GCT	-	150817142	7	5	69	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HZ-7918-01A-11D-2154-08	22120773	150817142	4453418	161	8637											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	232						8	232	---	---	---	---	-	77334279	GCA	-	77334277	7	5	70	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08		77334277	171916344	1	8638											
PRCC	5546	broad.mit.edu	37	chr1	156761536	156761536	+	Frame_Shift_Del	DEL	C	C	-													gcacaggacccggccctggtCcccccccaggaaattgcccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:156761536delC	ENST00000271526.4	+	4	1403	c.1131delC	c.(1129-1131)gtcfs	p.V377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCCCTGGTCCCCCCCCAGG	0.527			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gtfs		papillary renal cell carcinoma (translocation-associated)							74	74	74					1																	156761536		2203	4300	6503	SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761536delC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1131delC	1.37:g.156761536delC	ENSP00000271526:p.Val377fs					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	p.V377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Del	DEL	ENST00000271526.4	37	c.1131delC	CCDS1157.1																																																																																				0.527	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		7	517						7	517	---	---	---	---	-	156761536	C	-	156761536	7	5	70	1	0	1	0	1	0	0	0	0	12494	842	30	0	1145	0	PRCC	1	156761536	Frame_Shift_Del	DEL	C	TCGA-HZ-7925-01A-11D-2154-08	79427259	156761536	92489085	2	8639											
ZC3H11A	9877	broad.mit.edu	37	chr1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacaaattgtctgtccaGtccaatccttcccctcagct	5	15	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(382-384)caG>caT		zinc finger CCCH-type containing 11A							81	80	81					1																	203798664		2203	4297	6500	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798664G>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.384G>T	1.37:g.203798664G>T	ENSP00000438527:p.Gln128His					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H	p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	4211	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		128					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.384G>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819026	0.90873	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.87	5.87	0.94306	.	0.238543	0.43416	D	0.000563	T	0.65460	0.2693	L	0.55481	1.735	0.47737	D	0.999509	D	0.89917	1.0	D	0.78314	0.991	T	0.63800	-0.6555	10	0.59425	D	0.04	-26.9465	17.4969	0.87720	0.0:0.0:1.0:0.0	.	128	O75152	ZC11A_HUMAN	H	128;128;74;128;128;128;128	ENSP00000356183:Q128H;ENSP00000356181:Q128H;ENSP00000333253:Q128H;ENSP00000438527:Q128H;ENSP00000356179:Q128H	ENSP00000333253:Q128H	Q	+	3	2	ZC3H11A	202065287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	2.941000	0.99782	0.655000	0.94253	CAG		0.478	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		53	520	1	0	2.81731e-22	1	3.12465e-22	53	520					T	203798664	G	T	203798664	3	4	70	1	0	0	0	0	1	0	0	0	17613	1020	36	3	398	3	ZC3H11A	1	203798664	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	47037128	203798664	45451957	3	8640											
KCNH1	3756	broad.mit.edu	37	chr1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccttacctctgccaggCgggagtgcttgtggacattc	12	12	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000271751.4	-	5	575	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R183H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(547-549)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							131	112	118					1																	211256132		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211256132C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.548G>A	1.37:g.211256132C>T	ENSP00000271751:p.Arg183His					KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	717	-			183					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.548G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564274	0.65651	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98958	-5.21;-5.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	L	0.41710	1.295	0.80722	D	1	B;B	0.15141	0.008;0.012	B;B	0.14023	0.006;0.01	D	0.94651	0.7839	10	0.39692	T	0.17	.	17.6243	0.88090	0.0:1.0:0.0:0.0	.	183;183	Q14CL3;O95259	.;KCNH1_HUMAN	H	183	ENSP00000271751:R183H;ENSP00000355974:R183H	ENSP00000271751:R183H	R	-	2	0	KCNH1	209322755	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.477000	0.83638	0.561000	0.74099	CGC		0.547	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		147	499	0	0	0	1	0	147	499					T	211256132	C	T	211256132	3	4	70	1	0	0	0	0	1	0	0	0	8061	768	27	1	2449	1	KCNH1	1	211256132	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	7457468	211256132	37994489	4	8641											
USH2A	7399	broad.mit.edu	37	chr1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatagtcactccttgaTtaagctgtgtaatgtttgta	8	6	1	2			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000307340.3	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366943.2_Missense_Mutation_p.N366S|USH2A_ENST00000366942.3_Missense_Mutation_p.N366S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1096-1098)aAt>aGt		Usher syndrome 2A (autosomal recessive, mild)							116	104	108					1																	216498693		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498693T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1097A>G	1.37:g.216498693T>C	ENSP00000305941:p.Asn366Ser	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S	p.N366S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1483	-			366			Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1097A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013265	0.19277	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.55;2.54;2.12	5.36	4.23	0.50019	Laminin, N-terminal (3);	0.963531	0.08481	N	0.939588	T	0.19485	0.0468	L	0.45228	1.405	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	.	11.0938	0.48132	0.0:0.0725:0.0:0.9275	.	366;366	O75445-2;O75445	.;USH2A_HUMAN	S	366	ENSP00000305941:N366S;ENSP00000355910:N366S;ENSP00000355909:N366S	ENSP00000305941:N366S	N	-	2	0	USH2A	214565316	0.222000	0.23652	0.040000	0.18447	0.877000	0.50540	3.185000	0.50934	0.880000	0.35969	0.528000	0.53228	AAT		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		48	393	0	0	0	1	0	48	393					C	216498693	T	C	216498693	3	2	70	1	0	0	0	0	1	0	0	0	17090	1493	52	4	14793	4	USH2A	1	216498693	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	5242561	216498693	32751928	5	8642											
DISC1	27185	broad.mit.edu	37	chr1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagacttggcccaggccGcaaggaacagctccaggcca	12	15	0	1	rs367543086		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000602281.1	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.A281T	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	281	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCAGGCCGCAAGGAACAG	0.612																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(841-843)Gca>Aca		disrupted in schizophrenia 1							49	53	52					1																	231830345		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830345G>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.841G>A	1.37:g.231830345G>A	ENSP00000473425:p.Ala281Thr					DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T	p.A281T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	894	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	281			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.841G>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	0.711	-0.786971	0.02907	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.14144	3.16;2.53;2.99;2.98;2.79;3.17;2.8;2.8;2.78	4.64	-6.62	0.01813	.	0.905177	0.09699	N	0.767312	T	0.02156	0.0067	N	0.01438	-0.865	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28880	0.001;0.089;0.089;0.226;0.033;0.041;0.089;0.089;0.033;0.089;0.001;0.093;0.013;0.089;0.015;0.093;0.093;0.015;0.093;0.093;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16722	0.001;0.009;0.013;0.013;0.005;0.016;0.009;0.009;0.005;0.009;0.001;0.008;0.005;0.009;0.005;0.005;0.008;0.005;0.005;0.005;0.003	T	0.34403	-0.9830	10	0.02654	T	1	-0.1398	1.0607	0.01600	0.4317:0.1966:0.1615:0.2103	.	281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	T	281;281;281;281;281;281;281;281;281;281;281;281;132	ENSP00000403888:A281T;ENSP00000320784:A281T;ENSP00000355596:A281T;ENSP00000443996:A281T;ENSP00000440909:A281T;ENSP00000355593:A281T;ENSP00000440953:A281T;ENSP00000295051:A281T;ENSP00000441193:A281T	ENSP00000295051:A281T	A	+	1	0	DISC1	229896968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.175000	0.03102	-1.334000	0.02244	-1.019000	0.02448	GCA		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		31	342	0	0	0	1	0	31	342					A	231830345	G	A	231830345	3	1	70	1	0	0	0	0	1	0	0	0	4554	1087	38	1	847	1	DISC1	1	231830345	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	15331652	231830345	17420276	6	8643											
TAF1B	9014	broad.mit.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A													aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg					rs528368939		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																						ENST00000263663.5																			1	Insertion - Frameshift(1)	p.K63fs*1(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(184-189)ctaaaafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa																																				SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9989570_9989571insA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.LK62fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			3	374_375	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	ENST00000263663.5	37	c.186_187insA	CCDS33143.1																																																																																				0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		8	44						8	44	---	---	---	---	A	9989571	-	A	9989570	7	5	70	1	0	1	1	0	0	0	0	0	15572	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		9989570	233209803	7	8644											
NCKAP5	344148	broad.mit.edu	37	chr2	133542683	133542683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcggccatggccttgGccctgtgggcccctctccct	12	18	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000317721.6_Silent_p.G567G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1699-1701)ggC>ggT		NCK-associated protein 5							77	79	78					2																	133542683		1994	4158	6152	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133542683G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1701C>T	2.37:g.133542683G>A						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G	p.G567G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2074	-			567					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1701C>T	CCDS46418.1																																																																																				0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		62	427	0	0	0	1	0	62	427					A	133542683	G	A	133542683	2	1	70	1	0	0	0	0	0	0	0	1	10265	1190	42	2		2	NCKAP5	2	133542683	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	123553113	133542683	109656690	8	8645											
TTN	7273	broad.mit.edu	37	chr2	179621444	179621444	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctctcctcctttgTgaaagaggaatctgccactg	8	10	2	2	rs370496599		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000589042.1_Missense_Mutation_p.T3587A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCTTTGTGAAAGAGGAA	0.403																																						ENST00000589042.1																			0				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						c.(10759-10761)Aca>Gca		titin							77	74	75					2																	179621444		1891	4112	6003	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621444T>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.10303+2266A>G	2.37:g.179621444T>C						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	p.T3587A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10983	-			3273					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.10759A>G		.	.	.	.	.	.	.	.	.	.	T	12.01	1.808778	0.31961	.	.	ENSG00000155657	ENST00000342175	T	0.61392	0.11	5.8	4.62	0.57501	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44498	-0.9324	8	0.87932	D	0	.	6.238	0.20774	0.1425:0.0743:0.0:0.7832	.	3416	E7ET18	.	A	3416	ENSP00000340554:T3416A	ENSP00000340554:T3416A	T	-	1	0	TTN	179329689	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	1.923000	0.40055	0.993000	0.38866	0.533000	0.62120	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	191	0	0	0	1	0	24	191					C	179621444	T	C	179621444	1	2	70	0	1	0	0	0	0	0	0	0	16789	1696	59	4		4	TTN	2	179621444	Intron	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	46078761	179621444	63577929	9	8646											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116	104	108					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	292						7	292	---	---	---	---	-	191161629	T	-	191161629	7	5	70	1	0	1	0	1	0	0	0	0	7130	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08	11540185	191161629	52037744	10	8647											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		9	452						9	452	---	---	---	---	-	113380090	T	-	113380090	7	5	70	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08		113380090	84642340	11	8648											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs202184856|rs200441916|rs2114202	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1456-1464)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792161_79792169delCAGCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1456_1464delCAGCACCAC	4.37:g.79792161_79792169delCAGCACCAC	ENSP00000334836:p.Gln486_His488del					BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1622_1630	+			486	Missing (in Ref. 2; CAB70863).	Q -> H (in dbSNP:rs2114202).	Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1456_1464delCAGCACCAC	CCDS47083.1																																																																																				0.488	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		11	234						11	234	---	---	---	---	-	79792169	CAGCACCAC	-	79792161	7	5	70	1	0	1	0	1	0	0	0	0	1462	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-HZ-7925-01A-11D-2154-08		79792161	111362115	12	8649											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	279						7	279	---	---	---	---	-	146077125	CAG	-	146077123	7	5	70	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HZ-7925-01A-11D-2154-08	66284962	146077123	45077153	13	8650											
FHDC1	85462	broad.mit.edu	37	chr4	153896050	153896058	+	In_Frame_Del	DEL	CCCGCCGCT	CCCGCCGCT	-													ctcctaccggcccccgaacaCccgccgctcccgcctctccc					rs61753618|rs377374100|rs35455722	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:153896050_153896058delCCCGCCGCT	ENST00000511601.1	+	12	1795_1803	c.1607_1615delCCCGCCGCT	c.(1606-1617)acccgccgctcc>acc	p.RRS537del	FHDC1_ENST00000260008.3_In_Frame_Del_p.RRS537del			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	537									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCCCGAACACCCGCCGCTCCCGCCTCTC	0.675																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1606-1617)acc>a		FH2 domain containing 1																																				SO:0001651	inframe_deletion	85462				actin cytoskeleton organization		actin binding	g.chr4:153896050_153896058delCCCGCCGCT	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1607_1615delCCCGCCGCT	4.37:g.153896050_153896058delCCCGCCGCT	ENSP00000427567:p.Arg537_Ser539del					FHDC1_ENST00000260008.3_In_Frame_Del_p.TRRS536del	p.TRRS536del			Q9C0D6	FHDC1_HUMAN			12	1795_1803	+	all_hematologic(180;0.093)		536						In_Frame_Del	DEL	ENST00000511601.1	37	c.1607_1615delCCCGCCGCT	CCDS34081.1																																																																																				0.675	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	113						7	113	---	---	---	---	-	153896058	CCCGCCGCT	-	153896050	7	5	70	1	0	1	0	1	0	0	0	0	5901	507	18	0	1649	0	FHDC1	4	153896050	In_Frame_Del	DEL	CCCGCCGCT	TCGA-HZ-7925-01A-11D-2154-08	7818927	153896050	37258226	14	8651											
CEP72	55722	broad.mit.edu	37	chr5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-													cctgcaaagccgccttgctgAgcagcagcagcagcacgccc					rs141221365		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		7	390						7	390	---	---	---	---	-	640651	AGC	-	640649	7	5	70	1	0	1	0	1	0	0	0	0	3269	304	11	0	1503	0	CEP72	5	640649	In_Frame_Del	DEL	AGC	TCGA-HZ-7925-01A-11D-2154-08		640649	180274611	15	8652											
AQPEP	206338	broad.mit.edu	37	chr5	115327959	115327959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctatgttgtctcccaCgagattggacaccaggcatg	9	12	2	1	rs376904306		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTGTCTCCCACGAGATTGGAC	0.388																																						ENST00000357872.4																			0											c.(1243-1245)caC>caT				C		1,4403	2.1+/-5.4	0,1,2201	128	134	132		1245	-4.2	0.9	5		132	0,8600		0,0,4300	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		415/991	115327959	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327959C>T																												ENST00000357872.4:c.1245C>T	5.37:g.115327959C>T						AQPEP_ENST00000395528.2_5'UTR	p.H415H	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1369	+			415					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1245C>T	CCDS4124.1																																																																																				0.388	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			62	381	0	0	0	1	0	62	381					T	115327959	C	T	115327959	2	4	70	1	0	0	0	0	0	0	0	1	834	535	19	1		1	AQPEP	5	115327959	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	114687310	115327959	65587301	16	8653											
PHF15	23338	broad.mit.edu	37	chr5	133914449	133914451	+	In_Frame_Del	DEL	ACC	ACC	-													cgcctgcctgccaagaagaaAccaccaccaccaccaccgca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:133914449_133914451delACC	ENST00000282605.4	+	12	2033_2035	c.1947_1949delACC	c.(1945-1950)aaacca>aaa	p.P655del	PHF15_ENST00000395003.1_In_Frame_Del_p.P611del|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_In_Frame_Del_p.P612del																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAGAAGAAACCACCACCACCA	0.66																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1813-1818)aaa>aa																																						SO:0001651	inframe_deletion	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914449_133914451delACC																												ENST00000282605.4:c.1947_1949delACC	5.37:g.133914458_133914460delACC	ENSP00000282605:p.Pro655del					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_In_Frame_Del_p.KP606del|PHF15_ENST00000282605.4_In_Frame_Del_p.KP649del	p.KP605del	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1994_1996	+			605			Pro-rich.			In_Frame_Del	DEL	ENST00000282605.4	37	c.1815_1817delACC																																																																																					0.66	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			7	306						7	306	---	---	---	---	-	133914451	ACC	-	133914449	7	5	70	1	0	1	0	1	0	0	0	0	11868	40	2	0	1853	0	PHF15	5	133914449	In_Frame_Del	DEL	ACC	TCGA-HZ-7925-01A-11D-2154-08	18586490	133914449	47000811	17	8654											
PCDHA8	56140	broad.mit.edu	37	chr5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgcagccgctggaccacGaggagctagagctgctgcag	15	13	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1576-1578)Gag>Aag									67	79	75					5																	140222482		2196	4265	6461	SO:0001583	missense	0							g.chr5:140222482G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1576G>A	5.37:g.140222482G>A	ENSP00000434655:p.Glu526Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.E526K	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1576	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1576G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173878	0.78452	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.72394	-0.65;-0.65	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.000000	0.37053	U	0.002270	D	0.90614	0.7057	H	0.99169	4.455	0.43622	D	0.996001	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94761	0.7936	10	0.87932	D	0	.	15.5151	0.75818	0.0:0.0:1.0:0.0	.	526;526	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	526	ENSP00000434655:E526K;ENSP00000367363:E526K	ENSP00000367363:E526K	E	+	1	0	PCDHA8	140202666	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	9.188000	0.94921	1.790000	0.52503	0.306000	0.20318	GAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		115	946	0	0	0	1	0	115	946					A	140222482	G	A	140222482	3	1	70	1	0	0	0	0	1	0	0	0	11572	1059	37	1	1578	1	PCDHA8	5	140222482	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	6308033	140222482	40692778	18	8655											
CPEB4	80315	broad.mit.edu	37	chr5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtttgtgtctacaggatCgccccaggacattcgacatg	11	11	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000522336.1_5'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1129-1131)Cgc>Tgc		cytoplasmic polyadenylation element binding protein 4							98	103	101					5																	173337529		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173337529C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1129C>T	5.37:g.173337529C>T	ENSP00000265085:p.Arg377Cys					CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	2583	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	377					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1129C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923383	0.92319	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.61859	0.24;0.09;0.2;0.07	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.943;0.975;0.974;0.962	T	0.76217	-0.3040	10	0.87932	D	0	-13.1041	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377;377	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	377	ENSP00000265085:R377C;ENSP00000429092:R377C;ENSP00000334533:R377C;ENSP00000429048:R377C	ENSP00000265085:R377C	R	+	1	0	CPEB4	173270135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.885000	0.99019	0.655000	0.94253	CGC		0.368	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		75	422	0	0	0	1	0	75	422					T	173337529	C	T	173337529	3	4	70	1	0	0	0	0	1	0	0	0	3812	884	31	1	1135	1	CPEB4	5	173337529	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	33115047	173337529	7577731	19	8656											
PHACTR1	221692	broad.mit.edu	37	chr6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagacggatgaggagCggctggagctgaggcaacag	18	9	0	3	rs370759003		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGATGAGGAGCGGCTGGAGCT	0.587																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1351-1353)Cgg>Tgg		phosphatase and actin regulator 1		C	TRP/ARG,TRP/ARG	0,4100		0,0,2050	31	32	32		1351,1351	-1.6	0.8	6		32	1,8399		0,1,4199	no	missense,missense	PHACTR1	NM_030948.2,NM_001242648.1	101,101	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	451/581,451/581	13230385	1,12499	2050	4200	6250	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13230385C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1351C>T	6.37:g.13230385C>T	ENSP00000368655:p.Arg451Trp					PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron	p.R451W			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1480	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	451					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1351C>T		.	.	.	.	.	.	.	.	.	.	C	19.87	3.906594	0.72868	0.0	1.19E-4	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.39406	1.08;1.14;1.23	5.47	-1.6	0.08426	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.47716	1.5	0.80722	D	1	D;B;D	0.89917	1.0;0.274;1.0	D;B;D	0.83275	0.994;0.053;0.996	T	0.53774	-0.8391	10	0.59425	D	0.04	-14.544	17.6799	0.88240	0.3077:0.6923:0.0:0.0	.	520;451;451	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	W	451;451;520;306	ENSP00000368655:R451W;ENSP00000329880:R451W;ENSP00000397669:R306W	ENSP00000329880:R451W	R	+	1	2	PHACTR1	13338364	0.983000	0.35010	0.846000	0.33378	0.987000	0.75469	0.326000	0.19646	-0.430000	0.07318	0.557000	0.71058	CGG		0.587	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		11	76	0	0	0	1	0	11	76					T	13230385	C	T	13230385	3	4	70	1	0	0	0	0	1	0	0	0	11851	759	27	1	1381	1	PHACTR1	6	13230385	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		13230385	157884682	20	8657											
TNXB	7148	broad.mit.edu	37	chr6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctccttgcccccaacaCgcaccgcccggggccgccca	8	23	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4249-4251)cGt>cAt		tenascin XB							105	120	115					6																	32046935		1305	2558	3863	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H	p.R1417H			P22105	TENX_HUMAN			11	4451	-			1504			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4250G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		79	729	0	0	0	1	0	79	729					T	32046935	C	T	32046935	3	4	70	1	0	0	0	0	1	0	0	0	16398	536	19	1	10599	1	TNXB	6	32046935	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	18816550	32046935	139068132	21	8658											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	502						7	502	---	---	---	---	-	137815212	TGG	-	137815210	7	5	70	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-HZ-7925-01A-11D-2154-08	105768275	137815210	33299857	22	8659											
HOXA3	3200	broad.mit.edu	37	chr7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggggggcacggggctgCgacttggagactggcccccc	17	15	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACGGGGCTGCGACTTGGAGA	0.602																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(796-798)cGc>cAc		homeobox A3							116	113	114					7																	27148069		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148069C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.797G>A	7.37:g.27148069C>T	ENSP00000379640:p.Arg266His					HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA	p.R266H	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	996	-			266					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.797G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964113	0.53507	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87256	-2.23;-2.23	5.56	5.56	0.83823	.	0.053164	0.64402	D	0.000001	D	0.84097	0.5397	L	0.52206	1.635	0.53688	D	0.999979	P	0.38300	0.626	B	0.32022	0.139	D	0.84641	0.0695	10	0.49607	T	0.09	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	266	O43365	HXA3_HUMAN	H	266;266;108	ENSP00000379640:R266H;ENSP00000324884:R266H	ENSP00000324884:R266H	R	-	2	0	HOXA3	27114594	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.592000	0.53993	2.620000	0.88729	0.655000	0.94253	CGC		0.602	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			80	633	0	0	0	1	0	80	633					T	27148069	C	T	27148069	3	4	70	1	0	0	0	0	1	0	0	0	7323	768	27	1	538	1	HOXA3	7	27148069	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		27148069	131990594	23	8660											
ZAN	7455	broad.mit.edu	37	chr7	100350354	100350355	+	RNA	INS	-	-	A													aaaactcaccatccccacggINSaaaaactcaccatccccacg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:100350354_100350355insA	ENST00000348028.3	+	0	2791_2792				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_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)				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)			CATCCCCACGGAAAAACTCACC	0.505																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350354_100350355insA	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.100350359_100350359dupA						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2774_2775	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		87	691						87	691	---	---	---	---	A	100350355	-	A	100350354	6	5	70	0	1	1	1	0	0	0	0	0	17567	1175	41	0		0	ZAN	7	100350354	RNA	INS	-	TCGA-HZ-7925-01A-11D-2154-08	73202285	100350354	58788309	24	8661											
TRPM6	140803	broad.mit.edu	37	chr9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctagtgtagttgctgCgatatgctctaccaatgagg	11	7	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1576-1578)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							256	243	247					9																	77423011		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423011C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His					TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H	p.R526H			Q9BX84	TRPM6_HUMAN			14	1814	-			526					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1577G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		53	395	0	0	0	1	0	53	395					T	77423011	C	T	77423011	3	4	70	1	0	0	0	0	1	0	0	0	16643	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		77423011	63790420	25	8662											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	335						10	335	---	---	---	---	-	102590618	CAC	-	102590616	7	5	70	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HZ-7925-01A-11D-2154-08	25167605	102590616	38622815	26	8663											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	315						7	315	---	---	---	---	T	63958149	-	T	63958148	7	5	70	1	0	1	1	0	0	0	0	0	13773	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		63958148	71576599	27	8664											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052021	81052023	+	In_Frame_Del	DEL	GCA	GCA	-													ccgctgcagcagcggcagtgGcagcagcagcagccacagct					rs551280800		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:81052021_81052023delGCA	ENST00000334512.5	+	11	1437_1439	c.865_867delGCA	c.(865-867)gcadel	p.A293del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	293	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagcag	0.65																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(865-867)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052021_81052023delGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.865_867delGCA	10.37:g.81052030_81052032delGCA	ENSP00000334474:p.Ala293del					ZMIZ1_ENST00000478357.1_3'UTR	p.A293del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1437_1439	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		293			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.865_867delGCA	CCDS7357.1																																																																																				0.65	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	726						9	726	---	---	---	---	-	81052023	GCA	-	81052021	7	5	70	1	0	1	0	1	0	0	0	0	17749	1203	42	0	891	0	ZMIZ1	10	81052021	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08	17093873	81052021	54482726	28	8665											
OR51F2	119694	broad.mit.edu	37	chr11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatggccaatgtcttTctgctaatccctcctgtgct	6	13	4	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(880-882)ttT>ttG		olfactory receptor, family 51, subfamily F, member 2							235	189	205					11																	4843497		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843497T>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.882T>G	11.37:g.4843497T>G	ENSP00000323952:p.Phe294Leu					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.F294L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	947	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	294					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.882T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739947	0.49045	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.71	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.179185	0.26684	U	0.023031	T	0.00210	0.0006	L	0.48642	1.525	0.09310	N	0.999996	P	0.43287	0.802	P	0.47251	0.542	T	0.46527	-0.9185	10	0.87932	D	0	.	11.1978	0.48724	0.0:0.907:0.0:0.093	.	294	Q8NH61	O51F2_HUMAN	L	294	ENSP00000323952:F294L	ENSP00000323952:F294L	F	+	3	2	OR51F2	4800073	0.000000	0.05858	0.928000	0.36995	0.619000	0.37552	-0.058000	0.11750	1.312000	0.45043	-0.366000	0.07423	TTT		0.423	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		22	453	0	0	0	1	0	22	453					G	4843497	T	G	4843497	3	3	70	1	0	0	0	0	1	0	0	0	11139	1780	62	4	884	4	OR51F2	11	4843497	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08		4843497	130163019	29	8666											
NAALAD2	10003	broad.mit.edu	37	chr11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggagtgggaatcccccGaatacctgtacatcccattg	10	11	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(841-843)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase 2							115	120	118					11																	89891358		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891358G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.842G>A	11.37:g.89891358G>A	ENSP00000432481:p.Arg281Gln					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000525171.1_Intron	p.R281Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			7	1072	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	281			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.842G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285494	0.40394	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.41758	0.99;0.99	5.13	3.99	0.46301	.	0.797499	0.11731	N	0.534986	T	0.21801	0.0525	N	0.05414	-0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05084	-1.0907	9	.	.	.	0.2934	8.4175	0.32681	0.8469:0.0:0.1531:0.0	.	281;281	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	Q	281	ENSP00000432481:R281Q;ENSP00000320083:R281Q	.	R	+	2	0	NAALAD2	89531006	0.968000	0.33430	0.443000	0.26883	0.982000	0.71751	3.300000	0.51834	0.919000	0.36945	-0.341000	0.08007	CGA		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		62	539	0	0	0	1	0	62	539					A	89891358	G	A	89891358	3	1	70	1	0	0	0	0	1	0	0	0	10169	1058	37	1	868	1	NAALAD2	11	89891358	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	85047861	89891358	45115158	30	8667											
FAM55B	120406	broad.mit.edu	37	chr11	114569054	114569054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgagggaccacttgggAcacaggaagcaatatggtgg	17	6	0	1	rs1712838	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:114569054A>G	ENST00000389586.4	+	3	610	c.420A>G	c.(418-420)ggA>ggG	p.G140G	NXPE2_ENST00000375475.5_Silent_p.G140G	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	140						integral component of membrane (GO:0016021)											ACCACTTGGGACACAGGAAGC	0.552													A|||	3819	0.76258	0.674	0.8329	5008	,	,		20885	0.8224		0.7773	False		,,,				2504	0.7556					ENST00000375475.5																			0											c.(418-420)ggA>ggG		neurexophilin and PC-esterase domain family, member 2		A		990,394		354,282,56	121	105	110		420	-0.8	0	11	dbSNP_89	110	2490,692		966,558,67	no	coding-synonymous	FAM55B	NM_182495.5		1320,840,123	GG,GA,AA		21.7473,28.4682,23.7845		140/560	114569054	3480,1086	692	1591	2283	SO:0001819	synonymous_variant	120406							g.chr11:114569054A>G	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.420A>G	11.37:g.114569054A>G						NXPE2_ENST00000389586.4_Silent_p.G140G	p.G140G							3	518	+								Q2NKI8	Silent	SNP	ENST00000389586.4	37	c.420A>G	CCDS44738.1																																																																																				0.552	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		9	156	0	0	0	1	0	9	156					G	114569054	A	G	114569054	2	3	70	1	0	0	0	0	0	0	0	1	5610	262	10	4		4	FAM55B	11	114569054	Silent	SNP	A	TCGA-HZ-7925-01A-11D-2154-08	24677696	114569054	20437462	31	8668											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	218						8	218	---	---	---	---	-	119535680	CCT	-	119535678	7	5	70	1	0	1	0	1	0	0	0	0	12889	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-HZ-7925-01A-11D-2154-08	4966624	119535678	15470838	32	8669											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	113	1	0	2.98522e-18	1	3.25175e-18	14	113					A	25398284	C	A	25398284	3	1	70	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		25398284	108453611	33	8670											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		8	1243						8	1243	---	---	---	---	-	56628999	CTG	-	56628997	7	5	70	1	0	1	0	1	0	0	0	0	14671	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-HZ-7925-01A-11D-2154-08	31230713	56628997	77222898	34	8671											
C12orf64	283310	broad.mit.edu	37	chr12	80632702	80632702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagatgacaccaaatgtGtactcacaccctcagatttt	5	13	2	3			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:80632702G>T	ENST00000547103.1	+	9	868	c.862G>T	c.(862-864)Gta>Tta	p.V288L	OTOGL_ENST00000458043.2_Missense_Mutation_p.V288L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	288	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAATGTGTACTCACACC	0.443																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(862-864)Gta>Tta		otogelin-like							92	95	94					12																	80632702		1936	4132	6068	SO:0001583	missense	283310							g.chr12:80632702G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.862G>T	12.37:g.80632702G>T	ENSP00000447211:p.Val288Leu					OTOGL_ENST00000547103.1_Missense_Mutation_p.V288L	p.V288L	NM_173591.3	NP_775862.3					9	868	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	4.303	0.055553	0.08291	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15256	2.44;2.44	5.24	2.39	0.29439	.	.	.	.	.	T	0.10121	0.0248	N	0.25485	0.75	0.28364	N	0.920332	.	.	.	.	.	.	T	0.32402	-0.9908	7	0.07644	T	0.81	.	7.3855	0.26880	0.2065:0.0:0.6736:0.1199	.	.	.	.	L	288	ENSP00000447211:V288L;ENSP00000400895:V288L	ENSP00000400895:V288L	V	+	1	0	OTOGL	79156833	1.000000	0.71417	0.984000	0.44739	0.608000	0.37181	1.249000	0.32839	0.727000	0.32360	-0.229000	0.12294	GTA		0.443	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	57	1	0	0.000442599	1	0.000442599	10	57					T	80632702	G	T	80632702	3	4	70	1	0	0	0	0	1	0	0	0	1712	1377	48	3	896	3	C12orf64	12	80632702	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	24003705	80632702	53219193	35	8672											
ATXN2	6311	broad.mit.edu	37	chr12	112036754	112036756	+	In_Frame_Del	DEL	GCT	GCT	-													attggcagccgcgggcggcgGctgctgctgctgctgctgct					rs200089873|rs10560189|rs67658094	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112036754_112036756delGCT	ENST00000377617.3	-	1	724_726	c.563_565delAGC	c.(562-567)cagccg>ccg	p.Q188del	ATXN2_ENST00000608853.1_In_Frame_Del_p.Q28del|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_In_Frame_Del_p.Q188del|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	188				Missing (in Ref. 1; AAB19200 and 5; CAA69589). {ECO:0000305}.	cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCGGGCGGCGgctgctgctgctg	0.709														4763	0.951078	0.8729	0.9438	5008	,	,		4679	1.0		0.9682	False		,,,				2504	0.9939					ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(562-567)ccg>c		ataxin 2				330,50		162,6,22						-6.2	0.3		dbSNP_119	1	1419,127		701,17,55	no	coding	ATXN2	NM_002973.3		863,23,77	A1A1,A1R,RR		8.2147,13.1579,9.19				1749,177				SO:0001651	inframe_deletion	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:112036754_112036756delGCT	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.563_565delAGC	12.37:g.112036763_112036765delGCT	ENSP00000366843:p.Gln188del					ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000542287.2_Intron	p.QP188del	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			1	724_726	-			188	Missing (in Ref. 1; AAB19200 and 5; CAA69589).				A6NLD4|Q6ZQZ7|Q99493	In_Frame_Del	DEL	ENST00000377617.3	37	c.563_565delAGC	CCDS31902.1																																																																																				0.709	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		9	3						9	3	---	---	---	---	-	112036756	GCT	-	112036754	7	5	70	1	0	1	0	1	0	0	0	0	1212	1203	42	0	3476	0	ATXN2	12	112036754	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08	31404052	112036754	21815141	36	8673											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	384						8	384	---	---	---	---	-	20426145	CAT	-	20426143	7	5	70	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-HZ-7925-01A-11D-2154-08		20426143	94743735	37	8674											
CTSG	1511	broad.mit.edu	37	chr14	25043947	25043947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcggatggctctgcgCgcagtgatgtgttgctgggt	20	7	1	1	rs533433194		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.A91A(1)	urinary_tract(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(271-273)gcG>gcA		cathepsin G							211	169	183					14																	25043947		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043947C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.273G>A	14.37:g.25043947C>T							p.A91A	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	309	-			91			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.273G>A	CCDS9631.1																																																																																				0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		103	361	0	0	0	1	0	103	361					T	25043947	C	T	25043947	2	4	70	1	0	0	0	0	0	0	0	1	4046	755	27	1		1	CTSG	14	25043947	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		25043947	82305593	38	8675											
C14orf149	112849	broad.mit.edu	37	chr14	59946013	59946013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaatgcataaaatgcacCgccatatgcaatgtccacca	5	12	0	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:59946013C>T	ENST00000247194.4	-	2	678	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	189					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TAAAATGCACCGCCATATGCA	0.423																																						ENST00000247194.4																			0											c.(565-567)Ggt>Agt		L-3-hydroxyproline dehydratase (trans-)							92	85	87					14																	59946013		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59946013C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.565G>A	14.37:g.59946013C>T	ENSP00000247194:p.Gly189Ser					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S|RP11-701B16.2_ENST00000554253.1_RNA	p.G189S	NM_144581.1	NP_653182.1					2	678	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.565G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596368	0.96602	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.71341	-0.56;-0.56;-0.56	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91456	0.5185	10	0.87932	D	0	.	19.1044	0.93287	0.0:1.0:0.0:0.0	.	189	Q96EM0	PRCM_HUMAN	S	189;18;18	ENSP00000247194:G189S;ENSP00000431608:G18S;ENSP00000423874:G18S	ENSP00000247194:G189S	G	-	1	0	C14orf149	59015766	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.254000	0.78329	2.505000	0.84491	0.467000	0.42956	GGT		0.423	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		53	280	0	0	0	1	0	53	280					T	59946013	C	T	59946013	3	4	70	1	0	0	0	0	1	0	0	0	1757	652	23	1	515	1	C14orf149	14	59946013	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	34902066	59946013	47403527	39	8676											
BEGAIN	57596	broad.mit.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-													cgggaaggccgccgcctcggCctcctcctcctcctcggccg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(622-627)gcc>g		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del	p.EA210del			Q9BUH8	BEGIN_HUMAN			5	4027_4029	-		Melanoma(154;0.212)	274					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.623_625delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		8	140						8	140	---	---	---	---	-	101005273	CCT	-	101005271	7	5	70	1	0	1	0	1	0	0	0	0	1398	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-HZ-7925-01A-11D-2154-08	41059258	101005271	6344269	40	8677											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		10	387						10	387	---	---	---	---	-	40328599	TGC	-	40328597	7	5	70	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-HZ-7925-01A-11D-2154-08		40328597	62202795	41	8678											
TLN2	83660	broad.mit.edu	37	chr15	62993388	62993388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctatcacggccggaacGgcttcagttgttaacctcac	10	12	3	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1669-1671)acG>acA		talin 2							81	69	73					15																	62993388		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993388G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1671G>A	15.37:g.62993388G>A						TLN2_ENST00000306829.6_Silent_p.T557T	p.T557T			Q9Y4G6	TLN2_HUMAN			16	1901	+			557					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.1671G>A	CCDS32261.1																																																																																				0.418	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			38	218	0	0	0	1	0	38	218					A	62993388	G	A	62993388	2	1	70	1	0	0	0	0	0	0	0	1	16000	1103	39	1		1	TLN2	15	62993388	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	22664791	62993388	39538004	42	8679											
RASGRF1	5923	broad.mit.edu	37	chr15	79296394	79296394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgccggcggctcggtgaCgatgtcttggtgatggacag	16	10	1	2	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16615	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2245-2247)tcG>tcA		Ras protein-specific guanine nucleotide-releasing factor 1		C	,,	0,4392		0,0,2196	54	56	55		2199,2247,	-8.7	0	15	dbSNP_134	55	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,utr-5	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,,	733/1258,749/1274,	79296394	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296394C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2247G>A	15.37:g.79296394C>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR	p.S749S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2521	-			749			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2247G>A	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		51	428	0	0	0	1	0	51	428					T	79296394	C	T	79296394	2	4	70	1	0	0	0	0	0	0	0	1	13122	523	19	1		1	RASGRF1	15	79296394	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	16303006	79296394	23234998	43	8680											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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)			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						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				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						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		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.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		8	1315						8	1315	---	---	---	---	-	20370702	CCA	-	20370700	7	5	70	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-HZ-7925-01A-11D-2154-08		20370700	69984053	44	8681											
CENPT	80152	broad.mit.edu	37	chr16	67863789	67863789	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcttctaccctgctGggtccttgtgctcctgttgc	9	15	3	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Silent_p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547																																						ENST00000562787.1																			1	Substitution - coding silent(1)	p.P355P(1)	lung(1)	NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1063-1065)ccC>ccG		centromere protein T							272	282	279					16																	67863789		2124	4247	6371	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863789G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1065C>G	16.37:g.67863789G>C						CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron	p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1613	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	355					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1065C>G	CCDS42182.1																																																																																				0.547	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		156	1058	0	0	0	1	0	156	1058					C	67863789	G	C	67863789	2	2	70	1	0	0	0	0	0	0	0	1	3251	1335	47	5		5	CENPT	16	67863789	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	47493089	67863789	22490964	45	8682											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139	137	138					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			8	695						8	695	---	---	---	---	-	67963919	T	-	67963919	7	5	70	1	0	1	0	1	0	0	0	0	4039	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08	100130	67963919	22390834	46	8683											
ZFHX3	463	broad.mit.edu	37	chr16	72991716	72991718	+	In_Frame_Del	DEL	CCG	CCG	-													tgccgccgccgccgcagccaCcgccgccgccgccgccccgg					rs544025035|rs576903188	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:72991716_72991718delCCG	ENST00000268489.5	-	2	2999_3001	c.2327_2329delCGG	c.(2326-2331)gcggtg>gtg	p.A776del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				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)			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)				gccgcagccaccgccgccgccgc	0.635																																						ENST00000268489.5																			0				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						c.(2326-2331)gtg>g		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	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.chr16:72991716_72991718delCCG	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.2327_2329delCGG	16.37:g.72991725_72991727delCCG	ENSP00000268489:p.Ala776del					ZFHX3_ENST00000397992.5_Intron	p.AV776del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2999_3001	-		Ovarian(137;0.13)	776			Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2327_2329delCGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	724						7	724	---	---	---	---	-	72991718	CCG	-	72991716	7	5	70	1	0	1	0	1	0	0	0	0	17687	507	18	0	8818	0	ZFHX3	16	72991716	In_Frame_Del	DEL	CCG	TCGA-HZ-7925-01A-11D-2154-08	5027797	72991716	17363037	47	8684											
TP53	7157	broad.mit.edu	37	chr17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtcttggccagttgGcaaaacatcttgttgagggc	15	8	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000269305.4	-	5	594	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TGGCCAGTTGGCAAAACATCT	0.567		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)	ENST00000420246.2		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"		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(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						c.(403-405)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578525		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578525G>T	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.405C>A	17.37:g.7578525G>T	ENSP00000269305:p.Cys135*	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_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*	p.C135*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	537	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.405C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678815	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	.	.	.	X	135;135;135;135;135;135;124;42;3;42;3;135	.	ENSP00000269305:C135X	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	173	1	0	3.28513e-13	1	3.45505e-13	23	173					T	7578525	G	T	7578525	4	4	70	1	0	0	0	0	0	1	0	0	16434	1195	42	3	893	3	TP53	17	7578525	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08		7578525	73616685	48	8685											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	401						8	401	---	---	---	---	-	18167780	GCT	-	18167778	7	5	70	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08	10589253	18167778	63027432	49	8686											
KIAA1267	284058	broad.mit.edu	37	chr17	44109630	44109631	+	Frame_Shift_Ins	INS	-	-	G													ggggttggcactgcccagctINSggggggttgtccggccgtct					rs147378906		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:44109630_44109631insG	ENST00000262419.6	-	14	3342_3343	c.2872_2873insC	c.(2872-2874)cagfs	p.Q958fs	KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.Q958fs|KANSL1_ENST00000393476.3_Frame_Shift_Ins_p.Q252fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.Q958fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.Q894fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.Q958fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	958	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACTGCCCAGCTGGGGGGTTGTC	0.579																																						ENST00000262419.6																			0											c.(2872-2874)gctfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44109630_44109631insG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2873dupC	17.37:g.44109636_44109636dupG	ENSP00000262419:p.Gln958fs					KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000393476.3_Frame_Shift_Ins_p.A252fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.A894fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.A958fs	p.A958fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			14	3342_3343	-			958					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	ENST00000262419.6	37	c.2872_2873insC	CCDS11503.1																																																																																				0.579	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		54	415						54	415	---	---	---	---	G	44109631	-	G	44109630	7	5	70	1	0	1	1	0	0	0	0	0	8249	1580	55	0	452	0	KIAA1267	17	44109630	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	25941852	44109630	37085580	50	8687											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000499247.2_In_Frame_Del_p.P256del|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			11	265						11	265	---	---	---	---	-	48940612	GTG	-	48940610	7	5	70	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-HZ-7925-01A-11D-2154-08	4830980	48940610	32254600	51	8688											
MPO	4353	broad.mit.edu	37	chr17	56356676	56356676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagccaccgggaagccGttgcgcttgaccccgggcgt	14	15	0	2			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56356676G>A	ENST00000225275.3	-	5	836	c.660C>T	c.(658-660)aaC>aaT	p.N220N	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Silent_p.N252N	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	220					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCGGGAAGCCGTTGCGCTTGA	0.731																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(754-756)aaC>aaT		myeloperoxidase	Cefdinir(DB00535)						8	12	10					17																	56356676		2124	4168	6292	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356676G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.660C>T	17.37:g.56356676G>A						MPO_ENST00000225275.3_Silent_p.N220N	p.N252N			P05164	PERM_HUMAN			4	932	-			220					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.756C>T	CCDS11604.1																																																																																				0.731	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			9	43	0	0	0	1	0	9	43					A	56356676	G	A	56356676	2	1	70	1	0	0	0	0	0	0	0	1	9773	1136	40	1		1	MPO	17	56356676	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	7416066	56356676	24838534	52	8689											
SMAD4	4089	broad.mit.edu	37	chr18	48584825	48584826	+	Splice_Site	INS	-	-	TG													cgccccatcccggacattacINStgtaagctcttgtttttgtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:48584825_48584826insTG	ENST00000342988.3	+	7	1441_1442	c.903_904insTG	c.(904-906)tgg>TGtgg	p.W302fs	SMAD4_ENST00000398417.2_Splice_Site_p.W302fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	302	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W302R(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCGGACATTACTGTAAGCTCTT	0.411																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	p.0?(36)|p.?(2)|p.W302R(1)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.e7+1		SMAD family member 4																																				SO:0001630	splice_region_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584825_48584826insTG	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.904+1->TG	18.37:g.48584826_48584827dupTG						SMAD4_ENST00000398417.2_Splice_Site_p.*A301_splice|SMAD4_ENST00000588745.1_Intron	p.*A301_splice	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1441_1442	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	301			SAD.		A8K405	Splice_Site	INS	ENST00000342988.3	37	c.904_splice	CCDS11950.1																																																																																				0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	Frame_Shift_Ins	52	361						52	361	---	---	---	---	TG	48584826	-	TG	48584825	8	5	70	1	0	1	1	0	0	0	1	0	14810	579	20	0	925	0	SMAD4	18	48584825	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08		48584825	29492423	53	8690											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		9	379						9	379	---	---	---	---	-	6531151	GCT	-	6531149	7	5	70	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08		6531149	52597834	54	8691											
IL29	282618	broad.mit.edu	37	chr19	39787112	39787112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttggtgctaggcttggcCgtggcaggccctgtccccac	13	14	0	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:39787112C>T	ENST00000333625.2	+	1	148	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	17					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TAGGCTTGGCCGTGGCAGGCC	0.587																																						ENST00000333625.2																			0											c.(49-51)gcC>gcT		interferon, lambda 1							98	88	91					19																	39787112		2203	4300	6503	SO:0001819	synonymous_variant	282618							g.chr19:39787112C>T	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.51C>T	19.37:g.39787112C>T							p.A17A	NM_172140.1	NP_742152.1					1	148	+								A0AV25|Q17R34	Silent	SNP	ENST00000333625.2	37	c.51C>T	CCDS12531.1																																																																																				0.587	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		49	365	0	0	0	1	0	49	365					T	39787112	C	T	39787112	2	4	70	1	0	0	0	0	0	0	0	1	7715	639	23	1		1	IL29	19	39787112	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	33255963	39787112	19341871	55	8692											
CIC	23152	broad.mit.edu	37	chr19	42795823	42795824	+	Frame_Shift_Ins	INS	-	-	C													gtcagtgcggggtggaggggINSccggccagccactgccactg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:42795823_42795824insC	ENST00000575354.2	+	11	2852_2853	c.2812_2813insC	c.(2812-2814)gccfs	p.A938fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A1847fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A938fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTGGAGGGGCCGGCCAGCCA	0.693			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5539-5541)cggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795823_42795824insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2814dupC	19.37:g.42795825_42795825dupC	ENSP00000458663:p.Ala938fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs	p.R1847fs			Q96RK0	CIC_HUMAN			12	5607_5608	+		Prostate(69;0.00682)	938					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5539_5540insC	CCDS12601.1																																																																																				0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			11	714						11	714	---	---	---	---	C	42795824	-	C	42795823	7	5	70	1	0	1	1	0	0	0	0	0	3433	1203	42	0	2854	0	CIC	19	42795823	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3008711	42795823	16333160	56	8693											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		8	198						8	198	---	---	---	---	-	50868838	GCA	-	50868836	7	5	70	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08	8073013	50868836	8260147	57	8694											
SYT3	84258	broad.mit.edu	37	chr19	51133283	51133283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccagtcccctggtacaGctctggcttaatctgcccaa	10	14	2	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(820-822)Ctg>Ttg		synaptotagmin III							70	72	71					19																	51133283		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133283G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.820C>T	19.37:g.51133283G>A						SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L	p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1453	-		all_neural(266;0.131)	274					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.820C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		81	554	0	0	0	1	0	81	554					A	51133283	G	A	51133283	2	1	70	1	0	0	0	0	0	0	0	1	15527	962	34	2		2	SYT3	19	51133283	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	264447	51133283	7995700	58	8695											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	528						8	528	---	---	---	---	-	54675749	TCC	-	54675747	7	5	70	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-HZ-7925-01A-11D-2154-08	3542464	54675747	4453236	59	8696											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	208						7	208	---	---	---	---	-	27394184	GTG	-	27394182	7	5	70	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-HZ-7925-01A-11D-2154-08		27394182	20735713	60	8697											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296615	28296615	+	Frame_Shift_Del	DEL	A	A	-													ggagtggacttcttgggaacAaaaaagctataacggacatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:28296615delA	ENST00000284987.5	-	8	2671	c.2550delT	c.(2548-2550)tttfs	p.F850fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	850	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTGGGAACAAAAAAGCTAT	0.478																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2548-2550)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 5							114	119	117					21																	28296615		2203	4300	6503	SO:0001589	frameshift_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296615delA	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2550delT	21.37:g.28296615delA	ENSP00000284987:p.Phe850fs					AP001601.2_ENST00000426771.1_RNA	p.F850fs	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2671	-			850			Spacer.		Q52LV4|Q9UKP2	Frame_Shift_Del	DEL	ENST00000284987.5	37	c.2550delT	CCDS13579.1																																																																																				0.478	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	747						9	747	---	---	---	---	-	28296615	A	-	28296615	7	5	70	1	0	1	0	1	0	0	0	0	269	127	5	0	246	0	ADAMTS5	21	28296615	Frame_Shift_Del	DEL	A	TCGA-HZ-7925-01A-11D-2154-08	902433	28296615	19833280	61	8698											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		7	277						7	277	---	---	---	---	-	54578341	GAA	-	54578339	7	5	70	1	0	1	0	1	0	0	0	0	6567	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-HZ-7925-01A-11D-2154-08		54578339	100692221	62	8699											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	150						9	150	---	---	---	---	-	72433666	TCC	-	72433664	7	5	70	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HZ-7925-01A-11D-2154-08	17855325	72433664	82836896	63	8700											
L1CAM	3897	broad.mit.edu	37	chrX	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttgttgtggttctGgtaggtgacacggtcggctg	17	7	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(871-873)Cag>Tag		L1 cell adhesion molecule							189	170	176					X																	153135631		2203	4300	6503	SO:0001587	stop_gained	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135631G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.871C>T	X.37:g.153135631G>A	ENSP00000359077:p.Gln291*					L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	p.Q291*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			9	1060	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		291			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	ENST00000370060.1	37	c.871C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.085530	0.97271	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.15	4.22	0.49857	.	0.222293	0.31210	N	0.008045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.2623	0.54658	0.0:0.2934:0.7066:0.0	.	.	.	.	X	291;293;291;293;286;286;291	.	ENSP00000355380:Q291X	Q	-	1	0	L1CAM	152788825	0.838000	0.29461	1.000000	0.80357	0.908000	0.53690	0.530000	0.23036	2.283000	0.76528	0.529000	0.55759	CAG		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		199	598	0	0	0	1	0	199	598					A	153135631	G	A	153135631	4	1	70	1	0	0	0	0	0	1	0	0	8619	1357	47	2	2986	2	L1CAM	23	153135631	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	80701967	153135631	2134929	64	8701											
PARK7	11315	broad.mit.edu	37	chr1	8031011	8031011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggaagggcctgatagccGccatctgtgcaggtgacgtg	15	11	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:8031011G>A	ENST00000493678.1	+	5	377	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T			Q99497	PARK7_HUMAN	parkinson protein 7	104			A -> T (in PARK7). {ECO:0000269|PubMed:15254937}.		adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGATAGCCGCCATCTGTGC	0.488																																						ENST00000493678.1																			0				large_intestine(1)	1	GRCh37	CM032052	PARK7	M		c.(310-312)Gcc>Acc		parkinson protein 7							111	104	106					1																	8031011		2203	4300	6503	SO:0001583	missense	0				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8031011G>A	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"Parkinson disease"	16369	protein-coding gene	gene with protein product			"Parkinson disease (autosomal recessive, early onset) 7"			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.310G>A	1.37:g.8031011G>A	ENSP00000418770:p.Ala104Thr					PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T	p.A104T			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	5	377	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	104		A -> T (in PARK7).			B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.310G>A	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592116	0.86953	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.11	5.11	0.69529	ThiJ/PfpI (1);	0.098549	0.64402	D	0.000001	D	0.92805	0.7712	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.93915	0.7200	10	0.72032	D	0.01	.	14.4721	0.67523	0.0:0.0:1.0:0.0	.	104	Q99497	PARK7_HUMAN	T	104	ENSP00000340278:A104T;ENSP00000418770:A104T;ENSP00000366711:A104T;ENSP00000366708:A104T	ENSP00000340278:A104T	A	+	1	0	PARK7	7953598	1.000000	0.71417	0.970000	0.41538	0.583000	0.36354	8.154000	0.89641	2.542000	0.85734	0.650000	0.86243	GCC		0.488	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		5	411	0	0	0	1	0	5	411					A	8031011	G	A	8031011	3	1	71	1	0	0	0	0	1	0	0	0	11492	1087	38	1	324	1	PARK7	1	8031011	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		8031011	241219610	1	8702											
C1orf127	148345	broad.mit.edu	37	chr1	11008867	11008867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctggcctcttctcgccGgtttggctgtttgcaggaat	12	10	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:11008867G>A	ENST00000377008.4	-	11	1270	c.824C>T	c.(823-825)cCg>cTg	p.P275L	C1orf127_ENST00000377004.4_Missense_Mutation_p.P442L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	275	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCTTCTCGCCGGTTTGGCTGT	0.577																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1324-1326)cCg>cTg		chromosome 1 open reading frame 127							40	47	45					1																	11008867		2203	4296	6499	SO:0001583	missense	148345							g.chr1:11008867G>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.824C>T	1.37:g.11008867G>A	ENSP00000366207:p.Pro275Leu					C1orf127_ENST00000377008.4_Missense_Mutation_p.P275L	p.P442L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1324	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	293					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1325C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.776639|2.776639	0.49786|0.49786	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.38401|.	1.14;1.14|.	4.89|4.89	2.85|2.85	0.33270|0.33270	.|.	0.179711|.	0.27415|.	N|.	0.019463|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.70016|.	0.967;0.923;0.967|.	T|T	0.19877|0.19877	-1.0292|-1.0292	10|5	0.72032|.	D|.	0.01|.	-9.7783|-9.7783	9.7508|9.7508	0.40475|0.40475	0.0:0.0:0.6245:0.3755|0.0:0.0:0.6245:0.3755	.|.	293;267;275|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	L|W	442;275|277;394	ENSP00000366203:P442L;ENSP00000366207:P275L|.	ENSP00000366203:P442L|.	P|R	-|-	2|1	0|2	C1orf127|C1orf127	10931454|10931454	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.010000|0.010000	0.07245|0.07245	0.278000|0.278000	0.18753|0.18753	1.183000|1.183000	0.42943|0.42943	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.577	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		5	441	0	0	0	1	0	5	441					A	11008867	G	A	11008867	3	1	71	1	0	0	0	0	1	0	0	0	2001	1116	39	1	1150	1	C1orf127	1	11008867	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2977856	11008867	238241754	2	8703											
NUDC	10726	broad.mit.edu	37	chr1	27269375	27269375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagctggcggtcccttTctgtgtgaacttccggctga	12	11	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:27269375T>C	ENST00000321265.5	+	6	683	c.560T>C	c.(559-561)tTc>tCc	p.F187S		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	187	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGTCCCTTTCTGTGTGAAC	0.617																																						ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(559-561)tTc>tCc		nudC nuclear distribution protein							47	45	46					1																	27269375		2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269375T>C		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.560T>C	1.37:g.27269375T>C	ENSP00000319664:p.Phe187Ser						p.F187S	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	6	683	+			187			CS.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.560T>C	CCDS292.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450465	0.63290	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	T	0.76578	-1.03	5.37	5.37	0.77165	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.73962	2.25	0.80722	D	1	P;P	0.49090	0.919;0.732	P;P	0.54499	0.754;0.551	D	0.86304	0.1682	10	0.59425	D	0.04	-1.6956	15.4283	0.75072	0.0:0.0:0.0:1.0	.	138;187	Q9H2R7;Q9Y266	.;NUDC_HUMAN	S	191;187	ENSP00000319664:F187S	ENSP00000319664:F187S	F	+	2	0	NUDC	27141962	1.000000	0.71417	0.939000	0.37840	0.122000	0.20287	7.697000	0.84279	2.056000	0.61249	0.451000	0.29950	TTC		0.617	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			23	219	0	0	0	1	0	23	219					C	27269375	T	C	27269375	3	2	71	1	0	0	0	0	1	0	0	0	10763	1783	62	4	582	4	NUDC	1	27269375	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16260508	27269375	221981246	3	8704											
RPA2	6118	broad.mit.edu	37	chr1	28240575	28240575	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatactcctttcaacctactGatttcttttcggcttgagaa	5	10	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:28240575G>A	ENST00000373912.3	-	2	415	c.116C>T	c.(115-117)tCa>tTa	p.S39L	RPA2_ENST00000313433.7_Splice_Site_p.S127L|RPA2_ENST00000373909.3_Splice_Site_p.S47L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	39	Arg/Lys-rich (basic).				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTACTGATTTCTTTTC	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.e2+1	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							63	72	69					1																	28240575		2203	4300	6503	SO:0001630	splice_region_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240575G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.117+1C>T	1.37:g.28240575G>A						RPA2_ENST00000373909.3_Splice_Site_p.S47_splice|RPA2_ENST00000313433.7_Splice_Site_p.S127_splice	p.S39_splice	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	415	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	39			Arg/Lys-rich (basic).		Q52II0|Q5TEI9|Q5TEJ5	Splice_Site	SNP	ENST00000373912.3	37	c.117_splice	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126577	0.56721	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.25085	2.12;2.12;2.09;1.82	4.59	4.59	0.56863	.	0.415066	0.27088	N	0.020998	T	0.31482	0.0798	L	0.53249	1.67	0.42689	D	0.993576	B;P	0.35944	0.161;0.529	B;B	0.39840	0.081;0.311	T	0.20706	-1.0267	10	0.59425	D	0.04	-0.0166	16.5256	0.84330	0.0:0.0:1.0:0.0	.	39;47	P15927;P15927-2	RFA2_HUMAN;.	L	39;47;127;43	ENSP00000363021:S39L;ENSP00000363017:S47L;ENSP00000363015:S127L;ENSP00000387649:S43L	ENSP00000363015:S127L	S	-	2	0	RPA2	28113162	0.998000	0.40836	0.966000	0.40874	0.153000	0.21895	2.806000	0.47947	2.261000	0.74972	0.555000	0.69702	TCA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	Missense_Mutation	5	222	0	0	0	1	0	5	222					A	28240575	G	A	28240575	5	1	71	1	0	0	0	0	0	0	1	0	13587	1304	45	2	728	2	RPA2	1	28240575	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	971200	28240575	221010046	4	8705											
IQCC	55721	broad.mit.edu	37	chr1	32673443	32673443	+	Frame_Shift_Del	DEL	G	G	-													atcatctgggatggtaccttGggggggccagagcatagtgt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:32673443delG	ENST00000291358.6	+	5	1182	c.1161delG	c.(1159-1161)ttgfs	p.L387fs	IQCC_ENST00000537469.1_Frame_Shift_Del_p.L467fs|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGGTACCTTGGGGGGGCCAG	0.552																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)ttfs		IQ motif containing C							82	89	87					1																	32673443		2203	4300	6503	SO:0001589	frameshift_variant	55721							g.chr1:32673443delG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1161delG	1.37:g.32673443delG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Del_p.L387fs	p.L467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Del	DEL	ENST00000291358.6	37	c.1401delG	CCDS355.1																																																																																				0.552	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		9	982						9	982	---	---	---	---	-	32673443	G	-	32673443	7	5	71	1	0	1	0	1	0	0	0	0	7834	1339	47	0	1419	0	IQCC	1	32673443	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	4432868	32673443	216577178	5	8706											
MAP7D1	55700	broad.mit.edu	37	chr1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C													ttctccagaaggtgacccttINScccccccaccaccaccaatg					rs200289388		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636625_36636626insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs					MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs	p.P34fs			Q3KQU3	MA7D1_HUMAN			2	553_554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.100_101insC	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	685						8	685	---	---	---	---	C	36636626	-	C	36636625	7	5	71	1	0	1	1	0	0	0	0	0	9308	1783	62	0	106	0	MAP7D1	1	36636625	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	3963182	36636625	212613996	6	8707											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	888						12	888	---	---	---	---	-	44071948	GCG	-	44071946	7	5	71	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-HZ-8637-01A-11D-2396-08	7435321	44071946	205178675	7	8708											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	2153						7	2153	---	---	---	---	-	44489938	T	-	44489938	7	5	71	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	417992	44489938	204760683	8	8709											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T													tacatccatttttcgctttcINStttttttttctagacctatt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	344						12	344	---	---	---	---	T	91406040	-	T	91406039	7	5	71	1	0	1	1	0	0	0	0	0	18113	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	46916101	91406039	157844582	9	8710											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		9	556						9	556	---	---	---	---	-	92447230	AGC	-	92447228	7	5	71	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	1041189	92447228	156803393	10	8711											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144	130	135					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	871						7	871	---	---	---	---	-	109477407	T	-	109477407	7	5	71	1	0	1	0	1	0	0	0	0	3469	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	17030179	109477407	139773214	11	8712											
SPAG17	200162	broad.mit.edu	37	chr1	118584455	118584455	+	Frame_Shift_Del	DEL	G	G	-													tatcttaggttctggttggtGgggggactcttctgttactt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:118584455delG	ENST00000336338.5	-	21	3090	c.3025delC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		TCTGGTTGGTGGGGGGACTCT	0.373																																						ENST00000336338.5																			0				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						c.(3025-3027)acfs		sperm associated antigen 17							304	305	305					1																	118584455		2203	4300	6503	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584455delG		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.3025delC	1.37:g.118584455delG	ENSP00000337804:p.His1009fs						p.H1009fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090	-	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)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.3025delC	CCDS899.1																																																																																				0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	1791						7	1791	---	---	---	---	-	118584455	G	-	118584455	7	5	71	1	0	1	0	1	0	0	0	0	15031	1348	47	0	3758	0	SPAG17	1	118584455	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	9107048	118584455	130666166	12	8713											
PBXIP1	57326	broad.mit.edu	37	chr1	154918663	154918663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttcccggccagatTcttccttcttatgtttccag	5	14	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:154918663T>A	ENST00000368463.3	-	10	1558	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCAGATTCTTCCTTCTT	0.572																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1486-1488)gAa>gTa		pre-B-cell leukemia homeobox interacting protein 1							169	177	174					1																	154918663		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918663T>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1487A>T	1.37:g.154918663T>A	ENSP00000357448:p.Glu496Val					PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V	p.E496V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1558	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		496					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1487A>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003675	0.19121	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.33;2.32;2.4;2.35	5.0	-0.118	0.13547	.	0.910077	0.09504	N	0.793175	T	0.05868	0.0153	L	0.46157	1.445	0.25606	N	0.986545	P	0.49358	0.923	P	0.46110	0.504	T	0.18967	-1.0320	10	0.41790	T	0.15	-1.4959	1.4242	0.02319	0.1407:0.1709:0.1462:0.5422	.	496	Q96AQ6	PBIP1_HUMAN	V	467;496;496;323;272;341	ENSP00000357450:E467V;ENSP00000357448:E496V;ENSP00000440142:E323V;ENSP00000438584:E341V	ENSP00000295523:E496V	E	-	2	0	PBXIP1	153185287	0.002000	0.14202	0.074000	0.20217	0.034000	0.12701	-0.111000	0.10807	-0.172000	0.10779	-0.377000	0.06932	GAA		0.572	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		16	1839	0	0	0	1	0	16	1839					A	154918663	T	A	154918663	3	1	71	1	0	0	0	0	1	0	0	0	11538	1783	62	5	716	5	PBXIP1	1	154918663	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	36334208	154918663	94331958	13	8714											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914928	156914928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccgcttcattcacataCttgagaatctcccggcactg	6	13	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:156914928C>T	ENST00000361409.2	-	29	3496	c.2754G>A	c.(2752-2754)aaG>aaA	p.K918K	ARHGEF11_ENST00000368194.3_Silent_p.K958K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	918	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTCACATACTTGAGAATCT	0.587																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2872-2874)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 11							93	97	95					1																	156914928		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914928C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2754G>A	1.37:g.156914928C>T						ARHGEF11_ENST00000361409.2_Silent_p.K918K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K	p.K958K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			30	3913	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		918					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.2874G>A	CCDS1162.1																																																																																				0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		124	743	0	0	0	1	0	124	743					T	156914928	C	T	156914928	2	4	71	1	0	0	0	0	0	0	0	1	896	564	20	2		2	ARHGEF11	1	156914928	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1996265	156914928	92335693	14	8715											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		10	1194						10	1194	---	---	---	---	-	182845333	T	-	182845333	7	5	71	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	25930405	182845333	66405288	15	8716											
ASPM	259266	broad.mit.edu	37	chr1	197072159	197072159	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaatacctcgataccatctCtgaattataatagctgaagc	5	9	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:197072159C>T	ENST00000367409.4	-	18	6478	c.6222G>A	c.(6220-6222)caG>caA	p.Q2074Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2074	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2074Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATACCATCTCTGAATTATAA	0.323																																						ENST00000367409.4																			1	Substitution - coding silent(1)	p.Q2074Q(1)	cervix(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6220-6222)caG>caA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							74	81	79					1																	197072159		2202	4293	6495	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072159C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6222G>A	1.37:g.197072159C>T						ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.Q2074Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6478	-			2074			IQ 15.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6222G>A	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		21	688	0	0	0	1	0	21	688					T	197072159	C	T	197072159	2	4	71	1	0	0	0	0	0	0	0	1	1057	912	32	2		2	ASPM	1	197072159	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14226826	197072159	52178462	16	8717											
CR1L	1379	broad.mit.edu	37	chr1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-													gcaatcttggaagcagagggAaaaaggtgtttgagcttgtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aaafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(580-582)aafs		complement component (3b/4b) receptor 1-like							215	196	202					1																	207867814		1922	4144	6066	SO:0001589	frameshift_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207867814delA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.580delA	1.37:g.207867814delA	ENSP00000421736:p.Lys195fs					CR1L_ENST00000530905.1_Intron	p.K195fs	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	640	+			195			Sushi 3.		Q32MC9|Q8NEU7	Frame_Shift_Del	DEL	ENST00000508064.2	37	c.580delA	CCDS44310.1																																																																																				0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		7	1394						7	1394	---	---	---	---	-	207867814	A	-	207867814	7	5	71	1	0	1	0	1	0	0	0	0	3850	247	9	0	598	0	CR1L	1	207867814	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	10795655	207867814	41382807	17	8718											
TOMM20	9804	broad.mit.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	13	8	2	1	rs1130507		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																						ENST00000366607.4																			0				lung(2)|prostate(1)	3						c.(76-78)cGc>cAc		translocase of outer mitochondrial membrane 20 homolog (yeast)							138	127	131					1																	235291954		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291954C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type II"	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His						p.R26H	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	297	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	26					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.77G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		7	1098	0	0	0	1	0	7	1098					T	235291954	C	T	235291954	3	4	71	1	0	0	0	0	1	0	0	0	16406	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	27424140	235291954	13958667	18	8719											
OR2T10	127069	broad.mit.edu	37	chr1	248756363	248756363	+	Frame_Shift_Del	DEL	T	T	-													aggagcaggtggtgaaggccTttttccgaccctcaactgag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:248756363delT	ENST00000330500.2	-	1	737	c.707delA	c.(706-708)aagfs	p.K236fs	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GGTGAAGGCCTTTTTCCGACC	0.478																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(706-708)agfs		olfactory receptor, family 2, subfamily T, member 10							91	87	88					1																	248756363		2049	4237	6286	SO:0001589	frameshift_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756363delT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.707delA	1.37:g.248756363delT	ENSP00000329210:p.Lys236fs						p.K236fs	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	737	-	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)		236					B2RNK7	Frame_Shift_Del	DEL	ENST00000330500.2	37	c.707delA	CCDS31121.1																																																																																				0.478	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		7	541						7	541	---	---	---	---	-	248756363	T	-	248756363	7	5	71	1	0	1	0	1	0	0	0	0	11059	1609	56	0	234	0	OR2T10	1	248756363	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	13464409	248756363	494258	19	8720											
PUM2	23369	broad.mit.edu	37	chr2	20494235	20494235	+	Frame_Shift_Del	DEL	C	C	-													aaataagttggctggatacaCcccccatggaacgccgtaat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20494235delC	ENST00000361078.2	-	8	1076	c.1054delG	c.(1054-1056)gtgfs	p.V352fs	PUM2_ENST00000338086.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.V352fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.V296fs			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	352	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGATACACCCCCCATGGA	0.507																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1054-1056)tgfs		pumilio RNA-binding family member 2							140	138	139					2																	20494235		2203	4300	6503	SO:0001589	frameshift_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20494235delC	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1054delG	2.37:g.20494235delC	ENSP00000354370:p.Val352fs					PUM2_ENST00000536417.1_Frame_Shift_Del_p.V296fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.V352fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.V352fs	p.V352fs			Q8TB72	PUM2_HUMAN			8	1076	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		352			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Frame_Shift_Del	DEL	ENST00000361078.2	37	c.1054delG																																																																																					0.507	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	1254						7	1254	---	---	---	---	-	20494235	C	-	20494235	7	5	71	1	0	1	0	1	0	0	0	0	12876	507	18	0	2192	0	PUM2	2	20494235	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08		20494235	222705138	20	8721											
HS1BP3	64342	broad.mit.edu	37	chr2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-													acaggaccttcctgggtagtGgggggaggctggctgctgca					rs77941615	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20840864delG	ENST00000304031.3	-	3	300	c.275delC	c.(274-276)ccafs	p.P92fs	HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000402541.1_Frame_Shift_Del_p.P92fs	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGTAGTGGGGGGAGGCT	0.537																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(274-276)cafs		HCLS1 binding protein 3							162	164	164					2																	20840864		2203	4300	6503	SO:0001589	frameshift_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840864delG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.275delC	2.37:g.20840864delG	ENSP00000305193:p.Pro92fs					HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	p.P92fs			Q53T59	H1BP3_HUMAN			3	289	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		92			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Frame_Shift_Del	DEL	ENST00000304031.3	37	c.275delC	CCDS1700.1																																																																																				0.537	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		7	1597						7	1597	---	---	---	---	-	20840864	G	-	20840864	7	5	71	1	0	1	0	1	0	0	0	0	7391	1348	47	0	923	0	HS1BP3	2	20840864	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	346629	20840864	222358509	21	8722											
UGP2	7360	broad.mit.edu	37	chr2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-													ttctattttcacagcacaccAaaaaagacctggatggattt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161	191	181					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		7	2277						7	2277	---	---	---	---	-	64084969	A	-	64084969	7	5	71	1	0	1	0	1	0	0	0	0	16997	131	5	0	164	0	UGP2	2	64084969	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	43244105	64084969	179114404	22	8723											
LRRTM1	347730	broad.mit.edu	37	chr2	80530477	80530477	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttccgcagcccgtggaaGaggtcgggcgcgagcgcctg	17	13	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:80530477G>T	ENST00000295057.3	-	2	1124	c.468C>A	c.(466-468)ctC>ctA	p.L156L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	156					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCCCGTGGAAGAGGTCGGGCG	0.637										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(466-468)ctC>ctA		leucine rich repeat transmembrane neuronal 1							81	88	85					2																	80530477		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530477G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.468C>A	2.37:g.80530477G>T		HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.L156L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1124	-			156					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.468C>A	CCDS1966.1																																																																																				0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	472	1	0	0.00010058	1	0.000105874	13	472					T	80530477	G	T	80530477	2	4	71	1	0	0	0	0	0	0	0	1	9077	929	33	3		3	LRRTM1	2	80530477	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	16445508	80530477	162668896	23	8724											
SNRNP200	23020	broad.mit.edu	37	chr2	96943638	96943638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttggtcttgacgtgCggatcattgaacttagggtt	14	6	2	2	rs191125461		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:96943638C>T	ENST00000323853.5	-	40	5738	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1887	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGACGTGCGGATCATTGA	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		24027	0.0		0.0	False		,,,				2504	0.0					ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(5659-5661)ccG>ccA		small nuclear ribonucleoprotein 200kDa (U5)							133	140	138					2																	96943638		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96943638C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5661G>A	2.37:g.96943638C>T						SNRNP200_ENST00000349783.5_Intron	p.P1887P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			40	5738	-			1887			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.5661G>A	CCDS2020.1																																																																																				0.498	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		21	755	0	0	0	1	0	21	755					T	96943638	C	T	96943638	2	4	71	1	0	0	0	0	0	0	0	1	14902	755	27	1		1	SNRNP200	2	96943638	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	16413161	96943638	146255735	24	8725											
RNF149	284996	broad.mit.edu	37	chr2	101898405	101898405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggggaggctgatggtgGactgctgtcatcacttccgt	15	9	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:101898405G>A	ENST00000295317.3	-	6	1182	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	359					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCTGATGGTGGACTGCTGTCA	0.507																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1075-1077)Cca>Tca		ring finger protein 149							168	150	157					2																	101898405		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898405G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1075C>T	2.37:g.101898405G>A	ENSP00000295317:p.Pro359Ser						p.P359S	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1182	-			359					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1075C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388625	0.11581	.	.	ENSG00000163162	ENST00000295317	T	0.09255	3.0	5.63	0.874	0.19124	.	1.265960	0.05900	N	0.629823	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.06099	T	0.92	.	4.9472	0.13994	0.5279:0.0:0.3314:0.1408	.	359	Q8NC42	RN149_HUMAN	S	359	ENSP00000295317:P359S	ENSP00000295317:P359S	P	-	1	0	RNF149	101264837	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.190000	0.20209	0.563000	0.77884	CCA		0.507	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		6	657	0	0	0	1	0	6	657					A	101898405	G	A	101898405	3	1	71	1	0	0	0	0	1	0	0	0	13500	1174	41	2	135	2	RNF149	2	101898405	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4954767	101898405	141300968	25	8726											
CCDC74A	90557	broad.mit.edu	37	chr2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-													cagatgggggcgggggcacaCcccccaatgatcctgcccct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)cafs		coiled-coil domain containing 74A							103	106	105					2																	132290249		2203	4300	6503	SO:0001589	frameshift_variant	90557							g.chr2:132290249delC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.771delC	2.37:g.132290249delC	ENSP00000295171:p.His257fs					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs	p.H257fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	909	+			257					Q6P4I5	Frame_Shift_Del	DEL	ENST00000295171.6	37	c.771delC	CCDS2167.1																																																																																				0.602	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		7	1037						7	1037	---	---	---	---	-	132290249	C	-	132290249	7	5	71	1	0	1	0	1	0	0	0	0	2854	506	18	0	789	0	CCDC74A	2	132290249	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	30391844	132290249	110909124	26	8727											
NEB	4703	broad.mit.edu	37	chr2	152466345	152466345	+	Frame_Shift_Del	DEL	T	T	-													cactctgcaggtcataggccTtttttgcttggataatgtcg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:152466345delT	ENST00000172853.10	-	77	11726	c.11579delA	c.(11578-11580)aagfs	p.K3860fs	NEB_ENST00000427231.2_Frame_Shift_Del_p.K4103fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K4103fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K3860fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K4103fs			P20929	NEBU_HUMAN	nebulin	3860					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)			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)		GTCATAGGCCTTTTTTGCTTG	0.448																																						ENST00000427231.2																			0				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						c.(12307-12309)agfs		nebulin							207	195	198					2																	152466345		1951	4146	6097	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466345delT	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.11579delA	2.37:g.152466345delT	ENSP00000172853:p.Lys3860fs					NEB_ENST00000603639.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K3860fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K4103fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K3860fs	p.K4103fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12510	-			4102					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.12308delA																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	1000						7	1000	---	---	---	---	-	152466345	T	-	152466345	7	5	71	1	0	1	0	1	0	0	0	0	10344	1609	56	0	13786	0	NEB	2	152466345	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	20176096	152466345	90733028	27	8728											
TANK	10010	broad.mit.edu	37	chr2	162088014	162088014	+	Frame_Shift_Del	DEL	T	T	-													ctggacccatctgatgcaccTtttccctcactcgattcccc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:162088014delT	ENST00000392749.2	+	7	1292	c.1053delT	c.(1051-1053)cctfs	p.P351fs	TANK_ENST00000259075.2_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	351					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTGATGCACCTTTTCCCTCAC	0.438																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1051-1053)ccfs		TRAF family member-associated NFKB activator							60	58	58					2																	162088014		2203	4300	6503	SO:0001589	frameshift_variant	10010					cytosol	metal ion binding|protein binding	g.chr2:162088014delT	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1053delT	2.37:g.162088014delT	ENSP00000376505:p.Pro351fs					TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000445372.1_RNA	p.P351fs	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			7	1292	+			351					D3DPB5|Q7Z4J6|Q92885	Frame_Shift_Del	DEL	ENST00000392749.2	37	c.1053delT	CCDS2215.1																																																																																				0.438	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		7	549						7	549	---	---	---	---	-	162088014	T	-	162088014	7	5	71	1	0	1	0	1	0	0	0	0	15598	1596	56	0	1108	0	TANK	2	162088014	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	9621669	162088014	81111359	28	8729											
SCN3A	6328	broad.mit.edu	37	chr2	165986734	165986734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggtttcctagagcccCcacagaattgccaatgatct	10	11	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:165986734C>T	ENST00000360093.3	-	17	3129	c.2638G>A	c.(2638-2640)Ggg>Agg	p.G880R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G880R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	880					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTAGAGCCCCCACAGAATTG	0.433																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2638-2640)Ggg>Agg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						126	126	126					2																	165986734		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986734C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2638G>A	2.37:g.165986734C>T	ENSP00000353206:p.Gly880Arg					SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R|SCN3A_ENST00000283254.7_Missense_Mutation_p.G880R	p.G880R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3129	-			880					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2638G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.092709	0.94149	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.97983	0.9336	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	880;831;831;831;880	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	880;880;831;831	ENSP00000353206:G880R;ENSP00000283254:G880R;ENSP00000386726:G831R;ENSP00000403348:G831R	ENSP00000283254:G880R	G	-	1	0	SCN3A	165694980	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.571000	0.86741	0.563000	0.77884	GGG		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	913	0	0	0	1	0	7	913					T	165986734	C	T	165986734	3	4	71	1	0	0	0	0	1	0	0	0	13968	623	22	2	3412	2	SCN3A	2	165986734	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	3898720	165986734	77212639	29	8730											
CSRNP3	80034	broad.mit.edu	37	chr2	166514474	166514474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaggagaggctccacCgggagatgttgagagaacac	17	8	0	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:166514474C>T	ENST00000342316.4	+	3	624	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	118					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGGCTCCACCGGGAGATGTT	0.507																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(352-354)Cgg>Tgg		cysteine-serine-rich nuclear protein 3							52	47	48					2																	166514474		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514474C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.352C>T	2.37:g.166514474C>T	ENSP00000344042:p.Arg118Trp					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W	p.R118W	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	728	+			118					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.352C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553765	0.65425	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.44	3.43	0.39272	.	0.108850	0.64402	D	0.000015	T	0.32704	0.0838	L	0.59912	1.85	0.43160	D	0.994949	D	0.71674	0.998	P	0.59643	0.861	T	0.14172	-1.0482	10	0.56958	D	0.05	-9.7028	14.2181	0.65807	0.3795:0.6205:0.0:0.0	.	118	Q8WYN3	CSRN3_HUMAN	W	118;125;118;118;118;150	ENSP00000412081:R118W;ENSP00000318258:R118W;ENSP00000386278:R118W;ENSP00000344042:R118W;ENSP00000387195:R150W	ENSP00000318258:R118W	R	+	1	2	CSRNP3	166222720	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	2.123000	0.41996	1.263000	0.44181	0.563000	0.77884	CGG		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		25	245	0	0	0	1	0	25	245					T	166514474	C	T	166514474	3	4	71	1	0	0	0	0	1	0	0	0	3976	643	23	1	358	1	CSRNP3	2	166514474	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	527740	166514474	76684899	30	8731											
FKBP7	65977	broad.mit.edu	37	chr2	179343217	179343217	+	5'Flank	DEL	T	T	-													tctgaataagaaatgcatggTttttggcatcggctccagca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113	133	127					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		11	1859						11	1859	---	---	---	---	-	179343217	T	-	179343217	6	5	71	0	1	1	0	1	0	0	0	0	5938	1725	60	0		0	FKBP7	2	179343217	5'Flank	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	12828743	179343217	63856156	31	8732											
CRYGA	1418	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:209025577delC	ENST00000304502.4	-	3	495	c.476delG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCATCTGCACCCCCCCAGTC	0.532																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(475-477)gtfs		crystallin, gamma A							79	86	84					2																	209025577		2203	4300	6503	SO:0001589	frameshift_variant	1418							g.chr2:209025577delC		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.476delG	2.37:g.209025577delC	ENSP00000302105:p.Gly159fs						p.G159fs	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	495	-								Q53ST5	Frame_Shift_Del	DEL	ENST00000304502.4	37	c.476delG	CCDS33367.1																																																																																				0.532	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		9	1141						9	1141	---	---	---	---	-	209025577	C	-	209025577	7	5	71	1	0	1	0	1	0	0	0	0	3923	507	18	0	52	0	CRYGA	2	209025577	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	29682360	209025577	34173796	32	8733											
ABCA12	26154	broad.mit.edu	37	chr2	216002880	216002880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggctgcctttttacacCtagccaatttttccagacca	5	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216002880C>T	ENST00000272895.7	-	1	271	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	18					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTACACCTAGCCAATTT	0.438																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(52-54)Ggt>Agt		ATP-binding cassette, sub-family A (ABC1), member 12							205	211	209					2																	216002880		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:216002880C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.52G>A	2.37:g.216002880C>T	ENSP00000272895:p.Gly18Ser					ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	1	271	-		Renal(323;0.127)	18					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.52G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885770	0.51908	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	D;D	0.88277	-2.36;-2.36	5.62	5.62	0.85841	.	0.525226	0.20241	N	0.096299	T	0.71719	0.3373	N	0.02011	-0.69	0.36056	D	0.841115	B	0.21821	0.061	B	0.15052	0.012	T	0.72087	-0.4396	10	0.23302	T	0.38	.	10.6298	0.45530	0.0:0.9127:0.0:0.0873	.	18	Q86UK0	ABCAC_HUMAN	S	18	ENSP00000272895:G18S;ENSP00000400231:G18S	ENSP00000272895:G18S	G	-	1	0	ABCA12	215711125	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	2.827000	0.48112	2.641000	0.89580	0.555000	0.69702	GGT		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		10	1914	0	0	0	1	0	10	1914					T	216002880	C	T	216002880	3	4	71	1	0	0	0	0	1	0	0	0	30	681	24	2	7978	2	ABCA12	2	216002880	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6977303	216002880	27196493	33	8734											
FN1	2335	broad.mit.edu	37	chr2	216246983	216246983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actctctccgcttggattctGagcatagacactaaccacat	6	13	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216246983G>C	ENST00000359671.1	-	31	5108	c.4843C>G	c.(4843-4845)Cag>Gag	p.Q1615E	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000354785.4_Missense_Mutation_p.Q1706E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E			P02751	FINC_HUMAN	fibronectin 1	1615	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTTGGATTCTGAGCATAGACA	0.448																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(5116-5118)Cag>Gag		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100	90	94					2																	216246983		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216246983G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4843C>G	2.37:g.216246983G>C	ENSP00000352696:p.Gln1615Glu					FN1_ENST00000359671.1_Missense_Mutation_p.Q1615E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E	p.Q1706E			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	32	5485	-		Renal(323;0.127)	1705			Fibronectin type-III 12; extra domain.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5116C>G		.	.	.	.	.	.	.	.	.	.	G	17.49	3.403313	0.62288	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.91	5.91	0.95273	.	0.089806	0.48286	D	0.000200	T	0.65893	0.2735	L	0.34521	1.04	0.20638	N	0.999873	D;P;P;P;D;D;D;D;D;P;P;D	0.62365	0.991;0.904;0.946;0.478;0.975;0.989;0.991;0.971;0.981;0.946;0.946;0.973	D;D;D;P;P;D;D;P;D;D;D;D	0.79784	0.993;0.953;0.953;0.693;0.832;0.989;0.993;0.77;0.993;0.953;0.953;0.98	T	0.60974	-0.7156	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1406;1615;1706;1706;1615;1615;1615;1615;1616;1615;1615;1706	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	E	1615;1706;1615;1615;1706;1616;1615;1615;1615;1615;1615;1615;1706;1615;422	ENSP00000394423:Q1615E;ENSP00000323534:Q1706E;ENSP00000338200:Q1615E;ENSP00000350534:Q1615E;ENSP00000346839:Q1706E;ENSP00000352696:Q1615E;ENSP00000265312:Q1615E;ENSP00000273049:Q1615E;ENSP00000349509:Q1615E;ENSP00000410422:Q1615E;ENSP00000415018:Q1615E;ENSP00000399538:Q1706E;ENSP00000348285:Q1615E;ENSP00000416139:Q422E	ENSP00000265313:Q1616E	Q	-	1	0	FN1	215955228	1.000000	0.71417	0.988000	0.46212	0.692000	0.40212	6.444000	0.73452	2.793000	0.96121	0.655000	0.94253	CAG		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		32	323	0	0	0	1	0	32	323					C	216246983	G	C	216246983	3	2	71	1	0	0	0	0	1	0	0	0	5987	1299	45	5	2377	5	FN1	2	216246983	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	244103	216246983	26952390	34	8735											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000273077.4_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|PNKD_ENST00000248451.3_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		8	2830						8	2830	---	---	---	---	-	219134766	G	-	219134766	7	5	71	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	2887783	219134766	24064607	35	8736											
IRS1	3667	broad.mit.edu	37	chr2	227660234	227660234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaggactgaggttcaccCgggtgaaggcgctcatgccc	15	11	2	2	rs146268112	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227660234C>A	ENST00000305123.5	-	1	4241	c.3221G>T	c.(3220-3222)cGg>cTg	p.R1074L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1074					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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGGTTCACCCGGGTGAAGGC	0.642																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3220-3222)cGg>cTg		insulin receptor substrate 1							59	60	59					2																	227660234		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660234C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3221G>T	2.37:g.227660234C>A	ENSP00000304895:p.Arg1074Leu						p.R1074L	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4241	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1074						Missense_Mutation	SNP	ENST00000305123.5	37	c.3221G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685914	0.47991	.	.	ENSG00000169047	ENST00000305123	T	0.53206	0.63	5.28	5.28	0.74379	.	0.175706	0.36338	N	0.002644	T	0.32645	0.0836	N	0.22421	0.69	0.43688	D	0.996136	D	0.54207	0.965	P	0.45071	0.468	T	0.09907	-1.0653	10	0.06891	T	0.86	-9.3769	11.8558	0.52437	0.0:0.9167:0.0:0.0833	.	1074	P35568	IRS1_HUMAN	L	1074	ENSP00000304895:R1074L	ENSP00000304895:R1074L	R	-	2	0	IRS1	227368478	0.000000	0.05858	0.996000	0.52242	0.538000	0.34931	0.914000	0.28624	2.733000	0.93635	0.655000	0.94253	CGG		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		5	586	1	0	0.00198382	1	0.00202995	5	586					A	227660234	C	A	227660234	3	1	71	1	0	0	0	0	1	0	0	0	7870	652	23	3	511	3	IRS1	2	227660234	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	8525468	227660234	15539139	36	8737											
COL4A4	1286	broad.mit.edu	37	chr2	227945177	227945177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaggtcctggatccccTttttctccagcatgtccatc	8	14	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		collagen, type IV, alpha 4							126	126	126					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C						COL4A4_ENST00000329662.7_Silent_p.K595K	p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	1992	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	932	0	0	0	1	0	8	932					C	227945177	T	C	227945177	2	2	71	1	0	0	0	0	0	0	0	1	3702	1606	56	4		4	COL4A4	2	227945177	Silent	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	284943	227945177	15254196	37	8738											
ALPPL2	251	broad.mit.edu	37	chr2	233273223	233273223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagggtgcccggtacGtgtggaaccgcactgagctc	14	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:233273223G>A	ENST00000295453.3	+	7	848	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	266					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCCCGGTACGTGTGGAACCG	0.677																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(796-798)Gtg>Atg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						83	77	79					2																	233273223		2201	4283	6484	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273223G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.796G>A	2.37:g.233273223G>A	ENSP00000295453:p.Val266Met						p.V266M	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	848	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	266					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.796G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475270	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.98313	-4.86	3.37	3.37	0.38596	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97587	4.035	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	.	15.0806	0.72110	0.0:0.0:1.0:0.0	.	266	P10696	PPBN_HUMAN	M	266	ENSP00000295453:V266M	ENSP00000295453:V266M	V	+	1	0	ALPPL2	232981467	1.000000	0.71417	0.667000	0.29798	0.103000	0.19146	4.761000	0.62243	1.572000	0.49736	0.411000	0.27672	GTG		0.677	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		91	876	0	0	0	1	0	91	876					A	233273223	G	A	233273223	3	1	71	1	0	0	0	0	1	0	0	0	549	1145	40	1	822	1	ALPPL2	2	233273223	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5328046	233273223	9926150	38	8739											
FANCD2	2177	broad.mit.edu	37	chr3	10115018	10115018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcagaatgtgaccctaCgccatctcatagaggccagc	8	12	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:10115018C>T	ENST00000419585.1	+	28	2848	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M|FANCD2_ENST00000287647.3_Missense_Mutation_p.T896M			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	896					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGACCCTACGCCATCTCAT	0.398			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2686-2688)aCg>aTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							124	131	128					3																	10115018		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10115018C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2687C>T	3.37:g.10115018C>T	ENSP00000398754:p.Thr896Met					FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000419585.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M	p.T896M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	28	2780	+			896					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2687C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394940	0.42512	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	4.05	0.47172	.	0.379519	0.32593	N	0.005899	T	0.49270	0.1547	L	0.57536	1.79	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.48815	0.467;0.591	T	0.44682	-0.9312	10	0.56958	D	0.05	.	9.5192	0.39124	0.0:0.8619:0.0:0.1381	.	896;896	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	896	ENSP00000287647:T896M;ENSP00000373318:T896M;ENSP00000373317:T896M;ENSP00000398754:T896M	ENSP00000287647:T896M	T	+	2	0	FANCD2	10090018	0.010000	0.17322	0.007000	0.13788	0.567000	0.35839	1.540000	0.36115	0.834000	0.34852	0.650000	0.86243	ACG		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	1056	0	0	0	1	0	7	1056					T	10115018	C	T	10115018	3	4	71	1	0	0	0	0	1	0	0	0	5690	536	19	1	2793	1	FANCD2	3	10115018	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		10115018	187907412	39	8740											
TRANK1	9881	broad.mit.edu	37	chr3	36872996	36872996	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgccagttcatccatcTcatcctggccaaactcacac	4	16	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:36872996T>A	ENST00000429976.2	-	21	8193	c.7946A>T	c.(7945-7947)gAg>gTg	p.E2649V	TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2649							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCATCCATCTCATCCTGGCC	0.532																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7945-7947)gAg>gTg		tetratricopeptide repeat and ankyrin repeat containing 1							71	73	72					3																	36872996		2058	4189	6247	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872996T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7946A>T	3.37:g.36872996T>A	ENSP00000416168:p.Glu2649Val					TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V	p.E2649V			O15050	TRNK1_HUMAN			21	8193	-			2649					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.7946A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160380	0.38119	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35236	1.32;1.73;1.32	5.6	4.41	0.53225	.	0.096709	0.44902	D	0.000403	T	0.31482	0.0798	M	0.65975	2.015	0.30121	N	0.805724	P	0.40731	0.728	B	0.28139	0.086	T	0.43734	-0.9373	10	0.87932	D	0	.	11.1111	0.48232	0.0:0.0:0.1553:0.8447	.	2649	O15050	TRNK1_HUMAN	V	2099;2649;2099	ENSP00000416826:E2099V;ENSP00000416168:E2649V;ENSP00000301807:E2099V	ENSP00000301807:E2099V	E	-	2	0	TRANK1	36848000	0.949000	0.32298	0.652000	0.29579	0.537000	0.34900	2.449000	0.44935	1.035000	0.39972	0.459000	0.35465	GAG		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		11	123	0	0	0	1	0	11	123					A	36872996	T	A	36872996	3	1	71	1	0	0	0	0	1	0	0	0	16507	1551	54	5	843	5	TRANK1	3	36872996	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	26757978	36872996	161149434	40	8741											
GRM2	2912	broad.mit.edu	37	chr3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgacggctcttatgCgacccatggtgatgctccca	10	16	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A127V	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	127					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTCTTATGCGACCCATGGT	0.587																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(379-381)gCg>gTg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						59	46	50					3																	51743379		2203	4297	6500	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743379C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.380C>T	3.37:g.51743379C>T	ENSP00000378492:p.Ala127Val					GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron	p.A127V	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	614	+			127					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.380C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981130	0.93044	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.84589	-1.87;-1.87	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.062472	0.64402	D	0.000006	D	0.85500	0.5711	L	0.37630	1.12	0.80722	D	1	P	0.48230	0.907	P	0.49887	0.625	D	0.86902	0.2055	10	0.66056	D	0.02	.	19.2362	0.93861	0.0:1.0:0.0:0.0	.	127	Q14416	GRM2_HUMAN	V	127	ENSP00000378492:A127V;ENSP00000408906:A127V	ENSP00000296479:A127V	A	+	2	0	GRM2	51718419	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.026000	0.70873	2.555000	0.86185	0.655000	0.94253	GCG		0.587	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	202	0	0	0	1	0	5	202					T	51743379	C	T	51743379	3	4	71	1	0	0	0	0	1	0	0	0	6827	768	27	1	382	1	GRM2	3	51743379	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14870383	51743379	146279051	41	8742											
ITIH4	3700	broad.mit.edu	37	chr3	52847474	52847474	+	Frame_Shift_Del	DEL	G	G	-													agcaggaaatctccactcccGggggcccctcctggtaatcc					rs140372968		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:52847474delG	ENST00000266041.4	-	24	2852	c.2756delC	c.(2755-2757)ccgfs	p.P919fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	919					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACTCCCGGGGGCCCCTC	0.582																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2755-2757)cgfs		inter-alpha-trypsin inhibitor heavy chain family, member 4							65	74	71					3																	52847474		2203	4300	6503	SO:0001589	frameshift_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52847474delG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2756delC	3.37:g.52847474delG	ENSP00000266041:p.Pro919fs					ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs	p.P919fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	24	2852	-			919					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	c.2756delC	CCDS2865.1																																																																																				0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	863						8	863	---	---	---	---	-	52847474	G	-	52847474	7	5	71	1	0	1	0	1	0	0	0	0	7936	1116	39	0	40	0	ITIH4	3	52847474	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	1104095	52847474	145174956	42	8743											
EPHA3	2042	broad.mit.edu	37	chr3	89445093	89445093	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggatcatattggactacgaGgtcaaatactatgaaaaggt	11	5	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:89445093G>C	ENST00000336596.2	+	6	1638	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	471	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		TGGACTACGAGGTCAAATACT	0.448										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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						c.(1411-1413)gaG>gaC		EPH receptor A3							181	172	175					3																	89445093		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89445093G>C	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.1413G>C	3.37:g.89445093G>C	ENSP00000337451:p.Glu471Asp	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D	p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	6	1638	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	471			Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1413G>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668961	0.67814	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59083	0.29;0.29;0.29	5.96	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.64260	1.97	0.58432	D	0.999992	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.971	T	0.68758	-0.5324	9	.	.	.	.	10.9314	0.47220	0.1937:0.0:0.8063:0.0	.	471;471	P29320;P29320-2	EPHA3_HUMAN;.	D	471	ENSP00000337451:E471D;ENSP00000399926:E471D;ENSP00000419190:E471D	.	E	+	3	2	EPHA3	89527783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	0.863000	0.35553	0.655000	0.94253	GAG		0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	1031	0	0	0	1	0	10	1031					C	89445093	G	C	89445093	3	2	71	1	0	0	0	0	1	0	0	0	5186	991	35	5	1435	5	EPHA3	3	89445093	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	36597619	89445093	108577337	43	8744											
MYH15	22989	broad.mit.edu	37	chr3	108129678	108129678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagggcgtccccgagcTccagctgcagctggtgcctg	14	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:108129678T>C	ENST00000273353.3	-	32	4363	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1436						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTCCCCGAGCTCCAGCTGCAG	0.627																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4306-4308)gAg>gGg		myosin, heavy chain 15							35	37	36					3																	108129678		2054	4193	6247	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108129678T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4307A>G	3.37:g.108129678T>C	ENSP00000273353:p.Glu1436Gly						p.E1436G	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			32	4363	-			1436						Missense_Mutation	SNP	ENST00000273353.3	37	c.4307A>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.267172	0.59540	.	.	ENSG00000144821	ENST00000273353	D	0.85629	-2.01	5.2	5.2	0.72013	Myosin tail (1);	.	.	.	.	D	0.93141	0.7816	M	0.88512	2.96	0.54753	D	0.999989	D	0.69078	0.997	D	0.73708	0.981	D	0.94435	0.7653	9	0.87932	D	0	.	15.0504	0.71865	0.0:0.0:0.0:1.0	.	1436	Q9Y2K3	MYH15_HUMAN	G	1436	ENSP00000273353:E1436G	ENSP00000273353:E1436G	E	-	2	0	MYH15	109612368	1.000000	0.71417	0.076000	0.20297	0.040000	0.13550	5.798000	0.69095	1.962000	0.57031	0.459000	0.35465	GAG		0.627	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		16	287	0	0	0	1	0	16	287					C	108129678	T	C	108129678	3	2	71	1	0	0	0	0	1	0	0	0	10075	1551	54	4	1577	4	MYH15	3	108129678	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	18684585	108129678	89892752	44	8745											
PLXNA1	5361	broad.mit.edu	37	chr3	126736303	126736303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacaccaccatggtatgCcgcgccccgtctgtggccaa	10	15	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000393409.2	+	17	3312	c.3312C>T	c.(3310-3312)tgC>tgT	p.C1104C	PLXNA1_ENST00000251772.4_Silent_p.C1081C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1104	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATGGTATGCCGCGCCCCGT	0.677																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3310-3312)tgC>tgT		plexin A1							47	48	48					3																	126736303		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736303C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3312C>T	3.37:g.126736303C>T						PLXNA1_ENST00000251772.4_Silent_p.C1081C	p.C1104C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	17	3312	+			1104			IPT/TIG 3.			Silent	SNP	ENST00000393409.2	37	c.3312C>T	CCDS33847.2																																																																																				0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	372	0	0	0	1	0	5	372					T	126736303	C	T	126736303	2	4	71	1	0	0	0	0	0	0	0	1	12161	747	26	2		2	PLXNA1	3	126736303	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18606625	126736303	71286127	45	8746											
ACAP2	23527	broad.mit.edu	37	chr3	195022345	195022345	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctaaagttaaagatcGtacttttgaaaaatgaaccc	8	6	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:195022345G>A	ENST00000326793.6	-	15	1584	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	452	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GTTAAAGATCGTACTTTTGAA	0.328																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1354-1356)Cga>Tga		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							49	54	53					3																	195022345		2200	4299	6499	SO:0001587	stop_gained	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022345G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1354C>T	3.37:g.195022345G>A	ENSP00000324287:p.Arg452*						p.R452*	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			15	1584	-			452			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	c.1354C>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.281303|5.281303	0.95489|0.95489	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000450200	.|.	.|.	.|.	5.89|5.89	4.02|4.02	0.46733|0.46733	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63850	.|0.2546	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69405	.|-0.5154	.|3	0.02654|.	T|.	1|.	.|.	13.6884|13.6884	0.62531|0.62531	0.0:0.0:0.4133:0.5867|0.0:0.0:0.4133:0.5867	.|.	.|.	.|.	.|.	X|M	452|10	.|.	ENSP00000324287:R452X|.	R|T	-|-	1|2	2|0	ACAP2|ACAP2	196503634|196503634	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.966000|0.966000	0.64601|0.64601	2.762000|2.762000	0.47597|0.47597	0.738000|0.738000	0.32606|0.32606	-0.274000|-0.274000	0.10170|0.10170	CGA|ACG		0.328	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		6	344	0	0	0	1	0	6	344					A	195022345	G	A	195022345	4	1	71	1	0	0	0	0	0	1	0	0	119	1153	40	1	1018	1	ACAP2	3	195022345	Nonsense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	68286042	195022345	3000085	46	8747											
CCKAR	886	broad.mit.edu	37	chr4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-													tactccggatgcggttggccCtgctgctgctgccggtggac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	811						8	811	---	---	---	---	-	26483674	CTG	-	26483672	7	5	71	1	0	1	0	1	0	0	0	0	2887	681	24	0	415	0	CCKAR	4	26483672	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08		26483672	164670604	47	8748											
N4BP2	55728	broad.mit.edu	37	chr4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-													aagaagcttatcggatagggAaaaaaaatgtcgccaccttt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88	88	88					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		8	623						8	623	---	---	---	---	-	40144449	A	-	40144449	7	5	71	1	0	1	0	1	0	0	0	0	10151	247	9	0	4992	0	N4BP2	4	40144449	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	13660777	40144449	151009827	48	8749											
KIAA1211	57482	broad.mit.edu	37	chr4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcgaccaacaggcagaacAgaagaagaagaagaggcaca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cagaag>cag	p.K870del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.K870del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.K863del			Q6ZU35	K1211_HUMAN	KIAA1211	870	Poly-Lys.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCAGAACAGAAGAAGAAGAA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2596-2601)cag>c		KIAA1211				13,4193		0,13,2090						4.9	0.2			52	31,8179		2,27,4076	no	coding	KIAA1211	NM_020722.1		2,40,6166	A1A1,A1R,RR		0.3776,0.3091,0.3544				44,12372				SO:0001651	inframe_deletion	57482							g.chr4:57182265_57182267delAGA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2597_2599delAGA	4.37:g.57182274_57182276delAGA	ENSP00000423366:p.Lys870del					KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del	p.QK866del			Q6ZU35	K1211_HUMAN			6	2702_2704	+	Glioma(25;0.08)|all_neural(26;0.101)		866					Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.2597_2599delAGA	CCDS43230.1																																																																																				0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	370						7	370	---	---	---	---	-	57182267	AGA	-	57182265	7	5	71	1	0	1	0	1	0	0	0	0	8245	188	7	0	2615	0	KIAA1211	4	57182265	In_Frame_Del	DEL	AGA	TCGA-HZ-8637-01A-11D-2396-08	17037816	57182265	133972011	49	8750											
FAT1	2195	broad.mit.edu	37	chr4	187629556	187629556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtagtaccaatgggcaCgttctcatcaaaagcagctt	9	10	2	0	rs374511634		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:187629556C>T	ENST00000441802.2	-	2	1635	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	476	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATGGGCACGTTCTCATCA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1426-1428)Gtg>Atg		FAT atypical cadherin 1		C	MET/VAL	1,4055		0,1,2027	159	154	156		1426	4.6	0.4	4		156	0,8374		0,0,4187	no	missense	FAT1	NM_005245.3	21	0,1,6214	TT,TC,CC		0.0,0.0247,0.0080	benign	476/4589	187629556	1,12429	2028	4187	6215	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629556C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1426G>A	4.37:g.187629556C>T	ENSP00000406229:p.Val476Met	HNSCC(5;0.00058)					p.V476M	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1635	-			476			Cadherin 4.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1426G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	6.902	0.536012	0.13188	2.47E-4	0.0	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61274	0.65;0.12	5.45	4.61	0.57282	Cadherin (4);Cadherin-like (1);	0.247216	0.41194	D	0.000928	T	0.49098	0.1537	L	0.56396	1.775	0.28076	N	0.932393	P	0.34724	0.465	B	0.29785	0.107	T	0.51911	-0.8645	10	0.46703	T	0.11	.	9.1518	0.36967	0.1454:0.7818:0.0:0.0729	.	476	Q14517	FAT1_HUMAN	M	476	ENSP00000406229:V476M;ENSP00000423736:V476M	ENSP00000260147:V476M	V	-	1	0	FAT1	187866550	0.512000	0.26186	0.440000	0.26846	0.186000	0.23388	1.869000	0.39519	1.538000	0.49270	0.561000	0.74099	GTG		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	840	0	0	0	1	0	6	840					T	187629556	C	T	187629556	3	4	71	1	0	0	0	0	1	0	0	0	5714	536	19	1	12444	1	FAT1	4	187629556	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	130447291	187629556	3524720	50	8751											
AHRR	57491	broad.mit.edu	37	chr5	424055	424055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgctgcttcatctgccGtgtgcgctgcctgctggaca	12	15	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:424055G>A	ENST00000505113.1	+	7	727	c.683G>A	c.(682-684)cGt>cAt	p.R228H	AHRR_ENST00000316418.5_Missense_Mutation_p.R228H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTCATCTGCCGTGTGCGCTGC	0.662																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(682-684)cGt>cAt		aryl-hydrocarbon receptor repressor							47	55	52					5																	424055		2030	4190	6220	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424055G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.683G>A	5.37:g.424055G>A	ENSP00000424601:p.Arg228His					AHRR_ENST00000505113.1_Missense_Mutation_p.R228H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H	p.R228H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	727	+			228					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.683G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841778	0.91197	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.72615	0.56;0.48;-0.57;-0.67	3.96	3.96	0.45880	.	0.121518	0.56097	D	0.000027	D	0.85444	0.5698	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.88474	0.3064	10	0.87932	D	0	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	84;228;228	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	228;228;74;84	ENSP00000424601:R228H;ENSP00000323816:R228H;ENSP00000424880:R74H;ENSP00000426932:R84H	ENSP00000323816:R228H	R	+	2	0	AHRR	477055	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	CGT		0.662	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		17	492	0	0	0	1	0	17	492					A	424055	G	A	424055	3	1	71	1	0	0	0	0	1	0	0	0	417	1145	40	1	709	1	AHRR	5	424055	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		424055	180491205	51	8752											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		11	24						11	24	---	---	---	---	-	1038449	CAC	-	1038447	7	5	71	1	0	1	0	1	0	0	0	0	10484	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-HZ-8637-01A-11D-2396-08	614392	1038447	179876813	52	8753											
IRX4	50805	broad.mit.edu	37	chr5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtgctggtggtctcgcGcgtggcgttcttgcgccgcg	18	12	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	151					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(451-453)Cgc>Tgc		iroquois homeobox 4							127	95	106					5																	1879903		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879903G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.451C>T	5.37:g.1879903G>A	ENSP00000423161:p.Arg151Cys					IRX4_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000505938.1_5'UTR	p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	907	-			151					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.451C>T	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509935	0.85282	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84370	-1.84;-1.84;-1.84;-0.39	4.55	3.64	0.41730	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93692	0.7008	10	0.87932	D	0	-27.2035	12.7693	0.57410	0.0:0.0:0.8352:0.1647	.	151	P78413	IRX4_HUMAN	C	151;151;151;177	ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C	ENSP00000231357:R151C	R	-	1	0	IRX4	1932903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.297000	0.59061	2.067000	0.61834	0.462000	0.41574	CGC		0.637	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		68	421	0	0	0	1	0	68	421					A	1879903	G	A	1879903	3	1	71	1	0	0	0	0	1	0	0	0	7876	1087	38	1	1116	1	IRX4	5	1879903	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	841456	1879903	179035357	53	8754											
DMGDH	29958	broad.mit.edu	37	chr5	78325780	78325780	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaagaaactccccaggAgattggtgagaaacagtcag	10	7	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:78325780A>C	ENST00000255189.3	-	11	1789	c.1761T>G	c.(1759-1761)tcT>tcG	p.S587S	DMGDH_ENST00000380311.4_Silent_p.S386S|DMGDH_ENST00000540686.1_Silent_p.S207S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	587					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTCCCCAGGAGATTGGTGAG	0.353																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1759-1761)tcT>tcG		dimethylglycine dehydrogenase							72	75	74					5																	78325780		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78325780A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1761T>G	5.37:g.78325780A>C						DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S	p.S587S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	11	1789	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	587					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1761T>G	CCDS4044.1																																																																																				0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		6	251	0	0	0	1	0	6	251					C	78325780	A	C	78325780	2	2	71	1	0	0	0	0	0	0	0	1	4597	291	11	4		4	DMGDH	5	78325780	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	76445877	78325780	102589480	54	8755											
SNX2	6643	broad.mit.edu	37	chr5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatacacaggctctgagtgGagcaggaatattgaggatgg	14	5	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:122152644G>A	ENST00000379516.2	+	9	941	c.833G>A	c.(832-834)gGa>gAa	p.G278E	SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	278					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GCTCTGAGTGGAGCAGGAATA	0.443																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(832-834)gGa>gAa		sorting nexin 2							71	69	69					5																	122152644		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122152644G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.833G>A	5.37:g.122152644G>A	ENSP00000368831:p.Gly278Glu					SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	p.G278E	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	9	941	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	278					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.833G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778916	0.90195	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.27104	1.74;1.69	5.93	5.93	0.95920	.	0.161709	0.56097	D	0.000027	T	0.43478	0.1249	M	0.87180	2.865	0.80722	D	1	B	0.24920	0.114	B	0.28916	0.096	T	0.44205	-0.9343	10	0.87932	D	0	-20.0384	20.3334	0.98727	0.0:0.0:1.0:0.0	.	278	O60749	SNX2_HUMAN	E	278;161	ENSP00000368831:G278E;ENSP00000421663:G161E	ENSP00000368831:G278E	G	+	2	0	SNX2	122180543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.688000	0.98670	2.818000	0.97014	0.591000	0.81541	GGA		0.443	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		6	208	0	0	0	1	0	6	208					A	122152644	G	A	122152644	3	1	71	1	0	0	0	0	1	0	0	0	14941	1174	41	2	867	2	SNX2	5	122152644	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	43826864	122152644	58762616	55	8756											
PCDHB8	56128	broad.mit.edu	37	chr5	140559337	140559337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctccgcgccctgcacCgagctggtgccccgggcggc	15	17	0	0	rs374710779		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:140559337C>T	ENST00000239444.2	+	1	1967	c.1722C>T	c.(1720-1722)acC>acT	p.T574T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1720-1722)acC>acT									9	18	15					5																	140559337		2148	4213	6361	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559337C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1722C>T	5.37:g.140559337C>T							p.T574T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1967	+			574			Cadherin 6.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1722C>T	CCDS4250.1																																																																																				0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		8	1332	0	0	0	1	0	8	1332					T	140559337	C	T	140559337	2	4	71	1	0	0	0	0	0	0	0	1	11590	639	23	1		1	PCDHB8	5	140559337	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18406693	140559337	40355923	56	8757											
POU4F3	5459	broad.mit.edu	37	chr5	145719395	145719395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcggcctgggcgctccGgaacactcggtgatgcccgc	16	14	0	2	rs145372405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145719395G>A	ENST00000230732.4	+	2	494	c.405G>A	c.(403-405)ccG>ccA	p.P135P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	135					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCGCTCCGGAACACTCGG	0.687																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(403-405)ccG>ccA		POU class 4 homeobox 3		G		1,4405	2.1+/-5.4	0,1,2202	58	58	58		405	-4.4	1	5	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	POU4F3	NM_002700.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		135/339	145719395	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719395G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.405G>A	5.37:g.145719395G>A						CTC-359M8.1_ENST00000515598.1_RNA	p.P135P	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	494	+			135					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.405G>A	CCDS4281.1																																																																																				0.687	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		33	321	0	0	0	1	0	33	321					A	145719395	G	A	145719395	2	1	71	1	0	0	0	0	0	0	0	1	12322	1103	39	1		1	POU4F3	5	145719395	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5160058	145719395	35195865	57	8758											
TCERG1	10915	broad.mit.edu	37	chr5	145826931	145826931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taatggcggagcgtggcgggGacgggggcgagagtgaacga	22	6	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145826931G>T	ENST00000296702.5	+	1	57	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	7					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGCGGGGACGGGGGCGA	0.617											OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(19-21)Gac>Tac		transcription elongation regulator 1							27	28	28					5																	145826931		2202	4299	6501	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145826931G>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.19G>T	5.37:g.145826931G>T	ENSP00000296702:p.Asp7Tyr		OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1697	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	57	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	7					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.19G>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985832	0.53934	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.231983	0.38837	N	0.001560	T	0.19685	0.0473	N	0.14661	0.345	0.35204	D	0.774513	P;P;P	0.50943	0.94;0.902;0.842	B;P;B	0.47981	0.36;0.563;0.36	T	0.12116	-1.0560	10	0.72032	D	0.01	-11.5435	9.5825	0.39497	0.0931:0.0:0.9069:0.0	.	7;7;7	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Y	7	ENSP00000296702:D7Y;ENSP00000377943:D7Y	ENSP00000296702:D7Y	D	+	1	0	TCERG1	145807124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.332000	0.52083	2.782000	0.95742	0.655000	0.94253	GAC		0.617	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	104	1	0	0.000157383	1	0.000164878	6	104					T	145826931	G	T	145826931	3	4	71	1	0	0	0	0	1	0	0	0	15737	1174	41	3	21	3	TCERG1	5	145826931	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	107536	145826931	35088329	58	8759											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		7	606						7	606	---	---	---	---	-	149216459	GGA	-	149216457	7	5	71	1	0	1	0	1	0	0	0	0	12343	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-HZ-8637-01A-11D-2396-08	3389526	149216457	31698803	59	8760											
GEMIN5	25929	broad.mit.edu	37	chr5	154287370	154287370	+	Frame_Shift_Del	DEL	T	T	-													ttttttctccaattcaatacTttttttgcctacaagaatca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:154287370delT	ENST00000285873.7	-	16	2251	c.2176delA	c.(2176-2178)agtfs	p.S726fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	726					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATTCAATACTTTTTTTGCCT	0.373																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2176-2178)gtfs		gem (nuclear organelle) associated protein 5							109	112	111					5																	154287370		2203	4300	6503	SO:0001589	frameshift_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154287370delT	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2176delA	5.37:g.154287370delT	ENSP00000285873:p.Ser726fs						p.S726fs	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		16	2251	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	726					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Frame_Shift_Del	DEL	ENST00000285873.7	37	c.2176delA	CCDS4330.1																																																																																				0.373	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			7	574						7	574	---	---	---	---	-	154287370	T	-	154287370	7	5	71	1	0	1	0	1	0	0	0	0	6360	1609	56	0	2402	0	GEMIN5	5	154287370	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	5070913	154287370	26627890	60	8761											
RANBP9	10048	broad.mit.edu	37	chr6	13632610	13632610	+	Frame_Shift_Del	DEL	T	T	-													aaatatattcaccttcaacaTttttttgtttgcagtgttct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:13632610delT	ENST00000011619.3	-	12	1997	c.1939delA	c.(1939-1941)atgfs	p.M647fs	NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	647	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ACCTTCAACATTTTTTTGTTT	0.378																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1939-1941)tgfs		RAN binding protein 9							147	140	143					6																	13632610		2203	4300	6503	SO:0001589	frameshift_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13632610delT	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1939delA	6.37:g.13632610delT	ENSP00000011619:p.Met647fs					RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|NOL7_ENST00000474485.1_Intron	p.M647fs	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		12	1997	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	647			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Frame_Shift_Del	DEL	ENST00000011619.3	37	c.1939delA	CCDS4529.1																																																																																				0.378	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			9	802						9	802	---	---	---	---	-	13632610	T	-	13632610	7	5	71	1	0	1	0	1	0	0	0	0	13082	1493	52	0	262	0	RANBP9	6	13632610	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08		13632610	157482457	61	8762											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	17	10	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					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)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106	96	99					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	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.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		9	1121	0	0	0	1	0	9	1121					T	27114417	C	T	27114417	3	4	71	1	0	0	0	0	1	0	0	0	7180	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	13481807	27114417	144000650	62	8763											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			8	314	0	0	0	1	0	8	314					T	33287900	C	T	33287900	2	4	71	1	0	0	0	0	0	0	0	1	4254	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6173483	33287900	137827167	63	8764											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-													ggcagccagggcaacagcaaCagcagcagcagccgcctcag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aacagc>aac	p.S308del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.S308del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	308							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(910-915)aac>aa		UHRF1 binding protein 1																																				SO:0001651	inframe_deletion	54887							g.chr6:34804004_34804006delCAG	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.912_914delCAG	6.37:g.34804013_34804015delCAG	ENSP00000192788:p.Ser308del					UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1083_1085	+			304					Q9NXE0	In_Frame_Del	DEL	ENST00000192788.5	37	c.912_914delCAG	CCDS43455.1																																																																																				0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	1552						7	1552	---	---	---	---	-	34804006	CAG	-	34804004	7	5	71	1	0	1	0	1	0	0	0	0	17022	477	17	0	942	0	UHRF1BP1	6	34804004	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	1516104	34804004	136311063	64	8765											
STK38	11329	broad.mit.edu	37	chr6	36475332	36475332	+	Frame_Shift_Del	DEL	T	T	-													taaaattctgtcctatgtgcTtttttcagtcctgtgcaaag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:36475332delT	ENST00000229812.7	-	8	1002	c.717delA	c.(715-717)aaafs	p.K239fs	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTATGTGCTTTTTTCAGTC	0.423																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(715-717)aafs		serine/threonine kinase 38							247	259	255					6																	36475332		2203	4300	6503	SO:0001589	frameshift_variant	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.chr6:36475332delT		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.717delA	6.37:g.36475332delT	ENSP00000229812:p.Lys239fs						p.K239fs	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			8	1002	-			239			Protein kinase.			Frame_Shift_Del	DEL	ENST00000229812.7	37	c.717delA	CCDS4822.1																																																																																				0.423	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		9	2084						9	2084	---	---	---	---	-	36475332	T	-	36475332	7	5	71	1	0	1	0	1	0	0	0	0	15355	1606	56	0	708	0	STK38	6	36475332	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1671328	36475332	134639735	65	8766											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		9	967						9	967	---	---	---	---	T	44269189	-	T	44269188	7	5	71	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	7793856	44269188	126845879	66	8767											
TBX18	9096	broad.mit.edu	37	chr6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-													tggcatgatatactggagctGgggggacattcccgaaatct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)cagfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTGGAGCTGGGGGGACATT	0.537																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1483-1485)agfs		T-box 18							162	167	166					6																	85446744		2203	4300	6503	SO:0001589	frameshift_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446744delG	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1483delC	6.37:g.85446744delG	ENSP00000358677:p.Gln495fs					TBX18_ENST00000606784.1_Intron	p.Q495fs	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1820	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	495					A2RU13|Q7Z6U4|Q9UJI6	Frame_Shift_Del	DEL	ENST00000369663.5	37	c.1483delC	CCDS34495.1																																																																																				0.537	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		8	1467						8	1467	---	---	---	---	-	85446744	G	-	85446744	7	5	71	1	0	1	0	1	0	0	0	0	15705	1357	47	0	344	0	TBX18	6	85446744	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	41177556	85446744	85668323	67	8768											
STX11	8676	broad.mit.edu	37	chr6	144508554	144508554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccaaggcgcaggtgCggaaggccgtgcagtacgag	18	11	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:144508554C>T	ENST00000367568.4	+	2	973	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	264	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCGCAGGTGCGGAAGGCCGT	0.662									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(790-792)Cgg>Tgg		syntaxin 11							53	42	46					6																	144508554		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508554C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.790C>T	6.37:g.144508554C>T	ENSP00000356540:p.Arg264Trp						p.R264W	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	973	+			264			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.790C>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859393	0.71834	.	.	ENSG00000135604	ENST00000367568	T	0.46819	0.86	5.72	-0.0131	0.13985	Target SNARE coiled-coil domain (3);	0.166104	0.50627	D	0.000102	T	0.54498	0.1862	M	0.81341	2.54	0.41833	D	0.990089	D	0.76494	0.999	D	0.66979	0.948	T	0.62627	-0.6814	10	0.87932	D	0	-8.3158	11.0735	0.48016	0.6554:0.252:0.0926:0.0	.	264	O75558	STX11_HUMAN	W	264	ENSP00000356540:R264W	ENSP00000356540:R264W	R	+	1	2	STX11	144550247	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.975000	0.40569	0.045000	0.15804	0.655000	0.94253	CGG		0.662	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			31	214	0	0	0	1	0	31	214					T	144508554	C	T	144508554	3	4	71	1	0	0	0	0	1	0	0	0	15389	759	27	1	792	1	STX11	6	144508554	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	59061810	144508554	26606513	68	8769											
SYNE1	23345	broad.mit.edu	37	chr6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtattgctgctgtagagccGcagcctcctgaacacaggaa	11	12	0	2	rs566004273	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587										HNSCC(10;0.0054)			G|||	18	0.00359425	0.0	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.0184					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4888-4890)gCg>gTg		spectrin repeat containing, nuclear envelope 1							142	143	143					6																	152749427		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749427G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4889C>T	6.37:g.152749427G>A	ENSP00000356224:p.Ala1630Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V	p.A1630V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5490	-		Ovarian(120;0.0955)	1630					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4889C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764279	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	1.26;1.26;1.26;1.26;0.65;0.65	5.87	-3.59	0.04583	.	1.567860	0.03778	N	0.260842	T	0.13841	0.0335	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.24092	0.001;0.003;0.009;0.003;0.097	B;B;B;B;B	0.15484	0.001;0.001;0.004;0.001;0.013	T	0.07986	-1.0744	10	0.29301	T	0.29	.	1.7392	0.02948	0.3723:0.0905:0.3194:0.2177	.	1613;1630;1630;1630;1637	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1630;1637;1630;1637;1700;1630	ENSP00000356224:A1630V;ENSP00000396024:A1637V;ENSP00000265368:A1630V;ENSP00000390975:A1637V;ENSP00000341887:A1700V;ENSP00000356222:A1630V	ENSP00000265368:A1630V	A	-	2	0	SYNE1	152791120	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.564000	0.05936	-0.565000	0.06061	-0.122000	0.15005	GCG		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	1217	0	0	0	1	0	8	1217					A	152749427	G	A	152749427	3	1	71	1	0	0	0	0	1	0	0	0	15497	1087	38	1	22017	1	SYNE1	6	152749427	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8240873	152749427	18365640	69	8770											
TBP	6908	broad.mit.edu	37	chr6	170871047	170871049	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag					rs369312237|rs56241301		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:170871047_170871049delCAG	ENST00000392092.2	+	3	502_504	c.223_225delCAG	c.(223-225)cagdel	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcaacagcaacagcagcagcagc	0.571																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q75Q(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(223-225)del		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871047_170871049delCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.223_225delCAG	6.37:g.170871056_170871058delCAG	ENSP00000375942:p.Gln95del					TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	502_504	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.223_225delCAG	CCDS5315.1																																																																																				0.571	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	386						7	386	---	---	---	---	-	170871049	CAG	-	170871047	7	5	71	1	0	1	0	1	0	0	0	0	15696	479	17	0	229	0	TBP	6	170871047	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	18121620	170871047	244020	70	8771											
C7orf10	79783	broad.mit.edu	37	chr7	40899967	40899967	+	Frame_Shift_Del	DEL	G	G	-													tcagaggccaggccgcccccGctgctcgggcagcacacaac					rs2010706	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:40899967delG	ENST00000335693.4	+	14	1250	c.1227delG	c.(1225-1227)ccgfs	p.P409fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Frame_Shift_Del_p.P435fs|C7orf10_ENST00000401647.2_Frame_Shift_Del_p.P361fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		409					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGCCGCCCCCGCTGCTCGGGC	0.577																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1303-1305)ccfs		chromosome 7 open reading frame 10							99	109	106					7																	40899967		2095	4226	6321	SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899967delG																												ENST00000335693.4:c.1227delG	7.37:g.40899967delG	ENSP00000338475:p.Pro409fs					C7orf10_ENST00000401647.2_Frame_Shift_Del_p.P361fs|C7orf10_ENST00000335693.4_Frame_Shift_Del_p.P409fs|C7orf10_ENST00000464028.1_3'UTR	p.P435fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1329	+			409					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Del	DEL	ENST00000335693.4	37	c.1305delG	CCDS55105.1																																																																																				0.577	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			9	1247						9	1247	---	---	---	---	-	40899967	G	-	40899967	7	5	71	1	0	1	0	1	0	0	0	0	2383	1074	38	0	1252	0	C7orf10	7	40899967	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08		40899967	118238696	71	8772											
HECW1	23072	broad.mit.edu	37	chr7	43351558	43351558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacactgacctggtcacctCggacagccgctccacgctca	9	18	2	1	rs368244752		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000395891.2	+	4	829	c.224C>T	c.(223-225)tCg>tTg	p.S75L	HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	75					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGTCACCTCGGACAGCCGC	0.612																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(223-225)tCg>tTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C	LEU/SER	0,4238		0,0,2119	57	65	62		224	5.8	1	7		62	1,8469		0,1,4234	no	missense	HECW1	NM_015052.3	145	0,1,6353	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	75/1607	43351558	1,12707	2119	4235	6354	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351558C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.224C>T	7.37:g.43351558C>T	ENSP00000379228:p.Ser75Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			4	829	+			75					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.224C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	35	5.425853	0.96131	0.0	1.18E-4	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.3;1.3	5.76	5.76	0.90799	.	0.129505	0.56097	D	0.000040	T	0.45135	0.1327	L	0.39147	1.195	0.80722	D	1	D;B;D	0.71674	0.998;0.017;0.978	P;B;B	0.51385	0.668;0.005;0.357	T	0.39143	-0.9628	10	0.87932	D	0	.	19.9521	0.97203	0.0:1.0:0.0:0.0	.	75;107;75	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	75;75;74	ENSP00000379228:S75L;ENSP00000407774:S75L	ENSP00000265522:S74L	S	+	2	0	HECW1	43318083	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	5.920000	0.70017	2.708000	0.92522	0.655000	0.94253	TCG		0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		48	376	0	0	0	1	0	48	376					T	43351558	C	T	43351558	3	4	71	1	0	0	0	0	1	0	0	0	7072	893	31	1	230	1	HECW1	7	43351558	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	2451591	43351558	115787105	72	8773											
FGL2	10875	broad.mit.edu	37	chr7	76828879	76828881	+	In_Frame_Del	DEL	CCT	CCT	-													gttttggacttctttgaacaCctcctcgatcctgctgaatt					rs375839514		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:76828879_76828881delCCT	ENST00000248598.5	-	1	262_264	c.230_232delAGG	c.(229-234)gaggtg>gtg	p.E77del	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	77						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTTGAACACCTCCTCGATCCT	0.517																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(229-234)gtg>g		fibrinogen-like 2																																				SO:0001651	inframe_deletion	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828879_76828881delCCT	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.230_232delAGG	7.37:g.76828882_76828884delCCT	ENSP00000248598:p.Glu77del					CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	p.EV77del	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	262_264	-			77						In_Frame_Del	DEL	ENST00000248598.5	37	c.230_232delAGG	CCDS5591.1																																																																																				0.517	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		15	678						15	678	---	---	---	---	-	76828881	CCT	-	76828879	7	5	71	1	0	1	0	1	0	0	0	0	5898	507	18	0	1095	0	FGL2	7	76828879	In_Frame_Del	DEL	CCT	TCGA-HZ-8637-01A-11D-2396-08	33477321	76828879	82309784	73	8774											
CCDC132	55610	broad.mit.edu	37	chr7	92923947	92923948	+	Splice_Site	INS	-	-	G													ggacttacacgaatatggcaINSggtttggtttttttaaaatt					rs140810598		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:92923947_92923948insG	ENST00000305866.5	+	14	1294_1295	c.1166_1167insG	c.(1165-1170)caggat>caGggat	p.D390fs	CCDC132_ENST00000544910.1_Splice_Site_p.D360fs|CCDC132_ENST00000541136.1_Splice_Site_p.D201fs|CCDC132_ENST00000535481.1_Splice_Site_p.D110fs|CCDC132_ENST00000317751.6_Splice_Site_p.D121fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	390						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.e15+1		coiled-coil domain containing 132																																				SO:0001630	splice_region_variant	55610							g.chr7:92923947_92923948insG	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1167+1->G	7.37:g.92923949_92923949dupG						CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice	p.R359_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		15	1296_1297	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		389					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Splice_Site	INS	ENST00000305866.5	37	c.1077_splice	CCDS43617.1																																																																																				0.272	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Frame_Shift_Ins	7	742						7	742	---	---	---	---	G	92923948	-	G	92923947	8	5	71	1	0	1	1	0	0	0	1	0	2774	202	7	0	1262	0	CCDC132	7	92923947	Splice_Site	INS	-	TCGA-HZ-8637-01A-11D-2396-08	16095068	92923947	66214716	74	8775											
COL1A2	1278	broad.mit.edu	37	chr7	94050355	94050355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggtcctgctggaagtcGtggtgatggaggcccccctg	15	14	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:94050355G>A	ENST00000297268.6	+	38	2801	c.2330G>A	c.(2329-2331)cGt>cAt	p.R777H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	777			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGAAGTCGTGGTGATGGA	0.423										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2329-2331)cGt>cAt		collagen, type I, alpha 2	Collagenase(DB00048)						159	154	156					7																	94050355		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94050355G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2330G>A	7.37:g.94050355G>A	ENSP00000297268:p.Arg777His	HNSCC(75;0.22)					p.R777H	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		38	2801	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		777		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2330G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962324	0.92791	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93811	-3.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.94542	3.55	0.58432	D	0.999999	D	0.76494	0.999	P	0.58013	0.831	D	0.97940	1.0325	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	777	P08123	CO1A2_HUMAN	H	777;778	ENSP00000297268:R777H	ENSP00000297268:R777H	R	+	2	0	COL1A2	93888291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.330000	0.72925	2.824000	0.97209	0.655000	0.94253	CGT		0.423	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		27	352	0	0	0	1	0	27	352					A	94050355	G	A	94050355	3	1	71	1	0	0	0	0	1	0	0	0	3687	1145	40	1	2480	1	COL1A2	7	94050355	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1126408	94050355	65088308	75	8776											
PTPRZ1	5803	broad.mit.edu	37	chr7	121694078	121694078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactggtggttatgattcctGatggccaaaacatggtaagt	11	6	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:121694078G>A	ENST00000393386.2	+	26	6778	c.6367G>A	c.(6367-6369)Gat>Aat	p.D2123N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2123	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATGATTCCTGATGGCCAAAA	0.428																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6367-6369)Gat>Aat		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							180	172	175					7																	121694078		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121694078G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6367G>A	7.37:g.121694078G>A	ENSP00000377047:p.Asp2123Asn					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	p.D2123N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			26	6778	+			2123			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6367G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029859	0.54790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11063	2.81;2.81	5.39	4.5	0.54988	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.077127	0.53938	D	0.000057	T	0.20659	0.0497	L	0.31371	0.925	0.53688	D	0.999979	B;P;P	0.46987	0.449;0.888;0.775	B;P;P	0.60236	0.202;0.871;0.697	T	0.01413	-1.1361	10	0.62326	D	0.03	.	16.0827	0.81014	0.0:0.1344:0.8656:0.0	.	1262;1256;2123	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	N	2123;1256	ENSP00000377047:D2123N;ENSP00000410000:D1256N	ENSP00000377047:D2123N	D	+	1	0	PTPRZ1	121481314	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.788000	0.99064	1.251000	0.43983	-0.274000	0.10170	GAT		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		61	636	0	0	0	1	0	61	636					A	121694078	G	A	121694078	3	1	71	1	0	0	0	0	1	0	0	0	12864	1290	45	2	6469	2	PTPRZ1	7	121694078	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	27643723	121694078	37444585	76	8777											
FAM71F1	84691	broad.mit.edu	37	chr7	128356955	128356956	+	Frame_Shift_Ins	INS	-	-	C													tcggtaccctgcctgcccctINSccccaacatcctactcatgg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:128356955_128356956insC	ENST00000315184.5	+	2	391_392	c.338_339insC	c.(337-342)ctccccfs	p.LP113fs	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Frame_Shift_Ins_p.P35fs	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	113										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTGCCCCTCCCCAACATCC	0.569																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(337-339)cccfs		family with sequence similarity 71, member F1																																				SO:0001589	frameshift_variant	84691							g.chr7:128356955_128356956insC	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.342dupC	7.37:g.128356959_128356959dupC	ENSP00000326652:p.Leu113fs					FAM71F1_ENST00000485070.1_Frame_Shift_Ins_p.PP34fs|FAM71F1_ENST00000469348.1_3'UTR	p.P113fs	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			2	391_392	+			113					Q8IY75|Q8NA48	Frame_Shift_Ins	INS	ENST00000315184.5	37	c.338_339insC	CCDS5804.1																																																																																				0.569	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		8	285						8	285	---	---	---	---	C	128356956	-	C	128356955	7	5	71	1	0	1	1	0	0	0	0	0	5637	1551	54	0	344	0	FAM71F1	7	128356955	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	6662877	128356955	30781708	77	8778											
TAS2R4	50832	broad.mit.edu	37	chr7	141478534	141478534	+	Frame_Shift_Del	DEL	T	T	-													aggtcagtctacctgtctgcTttttttgtgttgtgtttcat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:141478534delT	ENST00000247881.2	+	1	293	c.246delT	c.(244-246)gctfs	p.A82fs	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	82					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ACCTGTCTGCTTTTTTTGTGT	0.428																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(244-246)gcfs		taste receptor, type 2, member 4							249	223	232					7																	141478534		2203	4300	6503	SO:0001589	frameshift_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478534delT	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.246delT	7.37:g.141478534delT	ENSP00000247881:p.Ala82fs					SSBP1_ENST00000465582.1_Intron	p.A82fs	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	293	+	Melanoma(164;0.0171)		82					Q645W5|Q75MV8	Frame_Shift_Del	DEL	ENST00000247881.2	37	c.246delT	CCDS5868.1																																																																																				0.428	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			7	872						7	872	---	---	---	---	-	141478534	T	-	141478534	7	5	71	1	0	1	0	1	0	0	0	0	15629	1596	56	0	248	0	TAS2R4	7	141478534	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	13121579	141478534	17660129	78	8779											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189370	11189370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcccagtgacctcctgaGttggagttgtgtgggggcag	17	8	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:11189370G>A	ENST00000382435.4	+	1	974	c.755G>A	c.(754-756)aGt>aAt	p.S252N		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	252						integral component of membrane (GO:0016021)											GACCTCCTGAGTTGGAGTTGT	0.632																																						ENST00000382435.4																			0											c.(754-756)aGt>aAt		solute carrier family 35, member G5							88	92	91					8																	11189370		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189370G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.755G>A	8.37:g.11189370G>A	ENSP00000371872:p.Ser252Asn						p.S252N	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	974	+			252					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.755G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879568	0.33162	.	.	ENSG00000177710	ENST00000382435	T	0.69040	-0.37	.	.	.	.	0.149427	0.31188	N	0.008094	T	0.55800	0.1943	L	0.44542	1.39	0.25557	N	0.98702	P	0.47484	0.896	P	0.48952	0.596	T	0.47368	-0.9123	9	0.19147	T	0.46	-4.5807	3.6132	0.08067	2.0E-4:0.4969:0.5026:2.0E-4	.	252	Q96KT7	S35G5_HUMAN	N	252	ENSP00000371872:S252N	ENSP00000371872:S252N	S	+	2	0	SLC35G5	11226780	0.969000	0.33509	0.202000	0.23494	0.204000	0.24138	1.472000	0.35376	0.088000	0.17205	0.089000	0.15464	AGT		0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		7	674	0	0	0	1	0	7	674					A	11189370	G	A	11189370	3	1	71	1	0	0	0	0	1	0	0	0	560	1029	36	2	757	2	AMAC1L2	8	11189370	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		11189370	135174652	79	8780											
PSD3	23362	broad.mit.edu	37	chr8	18729796	18729796	+	Frame_Shift_Del	DEL	T	T	-													aaagaggtatttctggtaaaTttttttggccagcagggagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:18729796delT	ENST00000327040.8	-	3	680	c.578delA	c.(577-579)aatfs	p.N193fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.N193fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	193					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTGGTAAATTTTTTTGGCC	0.438																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(577-579)atfs		pleckstrin and Sec7 domain containing 3							98	95	96					8																	18729796		1850	4089	5939	SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729796delT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.578delA	8.37:g.18729796delT	ENSP00000324127:p.Asn193fs					PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs	p.N193fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	680	-			193					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	ENST00000327040.8	37	c.578delA	CCDS43720.1																																																																																				0.438	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	919						7	919	---	---	---	---	-	18729796	T	-	18729796	7	5	71	1	0	1	0	1	0	0	0	0	12695	1493	52	0	2657	0	PSD3	8	18729796	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	7540426	18729796	127634226	80	8781											
KCNU1	157855	broad.mit.edu	37	chr8	36788639	36788639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcttctgtccttacaCgaaaccattttatcagacgt	8	11	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:36788639C>T	ENST00000399881.3	+	25	2944	c.2907C>T	c.(2905-2907)caC>caT	p.H969H	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	969					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.H969H(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)		TGTCCTTACACGAAACCATTT	0.418																																						ENST00000399881.3																			2	Substitution - coding silent(2)	p.H969H(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2905-2907)caC>caT		potassium channel, subfamily U, member 1							136	129	131					8																	36788639		1890	4114	6004	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36788639C>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.2907C>T	8.37:g.36788639C>T						KCNU1_ENST00000518904.1_3'UTR	p.H969H	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	25	2944	+			969						Silent	SNP	ENST00000399881.3	37	c.2907C>T	CCDS55220.1																																																																																				0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		54	597	0	0	0	1	0	54	597					T	36788639	C	T	36788639	2	4	71	1	0	0	0	0	0	0	0	1	8123	535	19	1		1	KCNU1	8	36788639	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18058843	36788639	109575383	81	8782											
ST18	9705	broad.mit.edu	37	chr8	53062293	53062293	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatatggaaacaataccTctttctcctcctctgtcttc	4	13	4	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	684					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)			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)				AAACAATACCTCTTTCTCCTC	0.418																																						ENST00000276480.7																			0				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						c.e16+1		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							65	65	65					8																	53062293		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062293T>C	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.2052+1A>G	8.37:g.53062293T>C							p.E684_splice	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			16	2734	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	684					Q17RY1	Splice_Site	SNP	ENST00000276480.7	37	c.2052_splice	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256218	0.80246	.	.	ENSG00000147488	ENST00000276480	T	0.53857	0.6	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.146632	0.64402	D	0.000011	T	0.72819	0.3508	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75082	-0.3443	10	0.49607	T	0.09	-25.523	15.6592	0.77169	0.0:0.0:0.0:1.0	.	684	O60284	ST18_HUMAN	G	684	ENSP00000276480:E684G	ENSP00000276480:E684G	E	-	2	0	ST18	53224846	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.945000	0.70226	2.110000	0.64415	0.377000	0.23210	GAG		0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Missense_Mutation	32	220	0	0	0	1	0	32	220					C	53062293	T	C	53062293	5	2	71	1	0	0	0	0	0	0	1	0	15264	1565	54	4	1136	4	ST18	8	53062293	Splice_Site	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16273654	53062293	93301729	82	8783											
CHD7	55636	broad.mit.edu	37	chr8	61735158	61735158	+	Frame_Shift_Del	DEL	T	T	-													ttgaaaggaatccatggcccTtttttagtaattgccccatt					rs201320784		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61735158delT	ENST00000423902.2	+	12	3533	c.3054delT	c.(3052-3054)cctfs	p.P1018fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Del_p.P1018fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1018	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)			TCCATGGCCCTTTTTTAGTAA	0.418																																						ENST00000423902.2																			0				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						c.(3052-3054)ccfs		chromodomain helicase DNA binding protein 7							171	166	168					8																	61735158		1840	4084	5924	SO:0001589	frameshift_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.chr8:61735158delT	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.3054delT	8.37:g.61735158delT	ENSP00000392028:p.Pro1018fs					CHD7_ENST00000525508.1_Frame_Shift_Del_p.P1018fs|CHD7_ENST00000524602.1_Intron	p.P1018fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3533	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1018			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Del	DEL	ENST00000423902.2	37	c.3054delT	CCDS47865.1																																																																																				0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	1359						8	1359	---	---	---	---	-	61735158	T	-	61735158	7	5	71	1	0	1	0	1	0	0	0	0	3339	1596	56	0	3096	0	CHD7	8	61735158	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	8672865	61735158	84628864	83	8784											
CHD7	55636	broad.mit.edu	37	chr8	61757622	61757622	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccttggtcaaccattccGgtaggtctccaccatgctgt	10	13	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61757622G>A	ENST00000423902.2	+	22	5529	c.5050G>A	c.(5050-5052)Ggt>Agt	p.G1684S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1684			G -> S (in CHARGES). {ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537}.		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)			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)			CAACCATTCCGGTAGGTCTCC	0.458																																						ENST00000423902.2																			0				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	GRCh37	CM081210	CHD7	M		c.e22+1		chromodomain helicase DNA binding protein 7							128	130	129					8																	61757622		1995	4177	6172	SO:0001630	splice_region_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.chr8:61757622G>A	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.5050+1G>A	8.37:g.61757622G>A						CHD7_ENST00000524602.1_Intron	p.G1684_splice	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		22	5529	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1684					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Splice_Site	SNP	ENST00000423902.2	37	c.5050_splice	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949354	0.92660	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.89485	-2.52	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	D	0.64776	0.929	D	0.94615	0.7808	10	0.87932	D	0	-15.9541	20.054	0.97641	0.0:0.0:1.0:0.0	.	1684	Q9P2D1	CHD7_HUMAN	S	1684	ENSP00000392028:G1684S	ENSP00000307304:G1684S	G	+	1	0	CHD7	61920176	1.000000	0.71417	0.963000	0.40424	0.505000	0.33919	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GGT		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Missense_Mutation	6	916	0	0	0	1	0	6	916					A	61757622	G	A	61757622	5	1	71	1	0	0	0	0	0	0	1	0	3339	1130	39	1	5132	1	CHD7	8	61757622	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22464	61757622	84606400	84	8785											
VPS13B	157680	broad.mit.edu	37	chr8	100654474	100654474	+	Frame_Shift_Del	DEL	A	A	-													gcatttcttttccttcagggAaaaaaataggggtcctctct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:100654474delA	ENST00000358544.2	+	34	5842	c.5731delA	c.(5731-5733)aaafs	p.K1912fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1912					protein transport (GO:0015031)					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)			TCCTTCAGGGAAAAAAATAGG	0.458																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(5731-5733)aafs		vacuolar protein sorting 13 homolog B (yeast)							109	118	115					8																	100654474		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100654474delA	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.5731delA	8.37:g.100654474delA	ENSP00000351346:p.Lys1912fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs|VPS13B_ENST00000395996.1_3'UTR	p.K1912fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5842	+	Breast(36;3.73e-07)		1912					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.5731delA	CCDS6280.1																																																																																				0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	1052						8	1052	---	---	---	---	-	100654474	A	-	100654474	7	5	71	1	0	1	0	1	0	0	0	0	17244	247	9	0	6055	0	VPS13B	8	100654474	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	38896852	100654474	45709548	85	8786											
RNF19A	25897	broad.mit.edu	37	chr8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtctttagaatgccGcaaaaggcacaaagggcact	9	9	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(412-414)Cgg>Tgg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							107	108	107					8																	101299991		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299991G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp					RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	p.R138W	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	728	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		138					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.412C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		6	873	0	0	0	1	0	6	873					A	101299991	G	A	101299991	3	1	71	1	0	0	0	0	1	0	0	0	13520	1086	38	1	2140	1	RNF19A	8	101299991	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	645517	101299991	45064031	86	8787											
BAI1	575	broad.mit.edu	37	chr8	143599550	143599550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatcgtgggctgtggcGtgtcctctctcaccctgctc	11	16	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:143599550G>A	ENST00000517894.1	+	19	3763	c.2869G>A	c.(2869-2871)Gtg>Atg	p.V957M	BAI1_ENST00000323289.5_Missense_Mutation_p.V957M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	957					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTGTGGCGTGTCCTCTCT	0.642																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2869-2871)Gtg>Atg		brain-specific angiogenesis inhibitor 1							200	199	199					8																	143599550		2203	4298	6501	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143599550G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2869G>A	8.37:g.143599550G>A	ENSP00000430945:p.Val957Met					BAI1_ENST00000323289.5_Missense_Mutation_p.V957M	p.V957M			O14514	BAI1_HUMAN			19	3763	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		957						Missense_Mutation	SNP	ENST00000517894.1	37	c.2869G>A		.	.	.	.	.	.	.	.	.	.	G	18.33	3.600387	0.66332	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.41758	0.99;0.99	3.22	2.32	0.28847	.	0.205293	0.31760	U	0.007115	T	0.55878	0.1948	M	0.61703	1.905	0.52099	D	0.999948	D	0.76494	0.999	D	0.65233	0.933	T	0.57551	-0.7792	10	0.87932	D	0	.	10.8578	0.46808	0.0:0.194:0.806:0.0	.	957	E9PBK0	.	M	957	ENSP00000430945:V957M;ENSP00000313046:V957M	ENSP00000313046:V957M	V	+	1	0	BAI1	143596552	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	6.006000	0.70724	0.531000	0.28639	-0.332000	0.08345	GTG		0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	677	0	0	0	1	0	6	677					A	143599550	G	A	143599550	3	1	71	1	0	0	0	0	1	0	0	0	1299	1145	40	1	2939	1	BAI1	8	143599550	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	42299559	143599550	2764472	87	8788											
SCRIB	23513	broad.mit.edu	37	chr8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctgaggactaccctctTcctcctcctcctcctccttc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:144890900_144890902delTCC	ENST00000320476.3	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_ENST00000377533.3_In_Frame_Del_p.583_584EE>E|SCRIB_ENST00000356994.2_In_Frame_Del_p.664_665EE>E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1990-1995)gaa>ga		scribbled planar cell polarity protein																																				SO:0001651	inframe_deletion	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890900_144890902delTCC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1992_1994delGGA	8.37:g.144890909_144890911delTCC	ENSP00000322938:p.Glu666del					SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del|SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del	p.EE664del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1998_2000	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		664			Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	In_Frame_Del	DEL	ENST00000320476.3	37	c.1992_1994delGGA	CCDS6411.1																																																																																				0.665	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		8	346						8	346	---	---	---	---	-	144890902	TCC	-	144890900	7	5	71	1	0	1	0	1	0	0	0	0	13987	1783	62	0	3065	0	SCRIB	8	144890900	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	1291350	144890900	1473122	88	8789											
IFNA7	3444	broad.mit.edu	37	chr9	21201878	21201878	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgttcccaagcagcagatGagtcctctgtgctgaagaga	11	10	2	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:21201878G>T	ENST00000239347.3	-	1	326	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	96					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|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)|response to virus (GO:0009615)|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)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGCAGATGAGTCCTCTGT	0.493																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(286-288)tCa>tAa		interferon, alpha 7							52	56	54					9																	21201878		2202	4281	6483	SO:0001587	stop_gained	3444				blood coagulation|cell-cell signaling|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.chr9:21201878G>T		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.287C>A	9.37:g.21201878G>T	ENSP00000239347:p.Ser96*						p.S96*	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	326	-			96					Q14607|Q5VV14	Nonsense_Mutation	SNP	ENST00000239347.3	37	c.287C>A	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365583	0.41902	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.56	0.28	0.15682	.	0.828141	0.10926	N	0.618941	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2755	0.31871	0.0:0.4864:0.3482:0.1654	.	.	.	.	X	96	.	ENSP00000239347:S96X	S	-	2	0	IFNA7	21191878	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.117000	0.15583	-0.191000	0.10448	0.586000	0.80456	TCA		0.493	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		9	653	1	0	7.48243e-07	1	8.02992e-07	9	653					T	21201878	G	T	21201878	4	4	71	1	0	0	0	0	0	1	0	0	7572	1294	45	3	286	3	IFNA7	9	21201878	Nonsense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		21201878	120011553	89	8790											
PRUNE2	158471	broad.mit.edu	37	chr9	79318999	79318999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttccaattctgaTatttccttgctggcacctag	5	11	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:79318999T>C	ENST00000376718.3	-	9	7653	c.7530A>G	c.(7528-7530)atA>atG	p.I2510M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I2151M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2510					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAATTCTGATATTTCCTTGC	0.363																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6451-6453)atA>atG		prune homolog 2 (Drosophila)							112	103	106					9																	79318999		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318999T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7530A>G	9.37:g.79318999T>C	ENSP00000365908:p.Ile2510Met					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2510M	p.I2151M			Q8WUY3	PRUN2_HUMAN			9	7653	-			2510					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6453A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.506|8.506	0.865365|0.865365	0.17250|0.17250	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.46451|0.43294	0.88;0.87|0.95	5.76|5.76	-4.85|-4.85	0.03142|0.03142	.|.	0.937666|0.937666	0.08922|0.08922	N|N	0.874209|0.874209	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.25486|.	0.127|.	B|.	0.19148|.	0.024|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|8	0.66056|0.17832	D|T	0.02|0.49	-0.3915|-0.3915	0.7931|0.7931	0.01061|0.01061	0.2162:0.3068:0.1812:0.2958|0.2162:0.3068:0.1812:0.2958	.|.	2510|.	Q8WUY3|.	PRUN2_HUMAN|.	M|V	2510;2151;2509|1832	ENSP00000365908:I2510M;ENSP00000397425:I2151M|ENSP00000389706:I1832V	ENSP00000365908:I2510M|ENSP00000389706:I1832V	I|I	-|-	3|1	3|0	PRUNE2|PRUNE2	78508819|78508819	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.769000|0.769000	0.43574|0.43574	-2.307000|-2.307000	0.01132|0.01132	-0.425000|-0.425000	0.07371|0.07371	0.533000|0.533000	0.62120|0.62120	ATA|ATC		0.363	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	630	0	0	0	1	0	5	630					C	79318999	T	C	79318999	3	2	71	1	0	0	0	0	1	0	0	0	12688	1396	49	4	1780	4	PRUNE2	9	79318999	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	58117121	79318999	61894432	90	8791											
NTRK2	4915	broad.mit.edu	37	chr9	87338511	87338511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatctgcaaatctggccGcacctaacctcactgtggag	9	14	3	0	rs117250170		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:87338511G>A	ENST00000323115.4	+	6	960	c.607G>A	c.(607-609)Gca>Aca	p.A203T	NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	203	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AAATCTGGCCGCACCTAACCT	0.398										TSP Lung(25;0.17)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18578	0.0		0.001	False		,,,				2504	0.0					ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(607-609)Gca>Aca		neurotrophic tyrosine kinase, receptor, type 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	179	153	162		607,607,607,607,607	4.5	0.9	9	dbSNP_132	162	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	58,58,58,58,58	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign,benign,benign,benign,benign	203/478,203/823,203/554,203/538,203/839	87338511	7,12999	2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338511G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.607G>A	9.37:g.87338511G>A	ENSP00000314586:p.Ala203Thr	TSP Lung(25;0.17)				NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T	p.A203T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			7	1090	+			203			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.607G>A	CCDS35050.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.40	1.340322	0.24339	2.27E-4	6.98E-4	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.64	4.52	0.55395	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177702	0.49916	D	0.000137	T	0.12050	0.0293	N	0.01438	-0.865	0.27631	N	0.948042	B;B;B;B;B;B;B;B	0.29936	0.029;0.013;0.013;0.016;0.001;0.005;0.262;0.013	B;B;B;B;B;B;B;B	0.17722	0.019;0.009;0.009;0.016;0.004;0.004;0.019;0.009	T	0.13656	-1.0501	10	0.15952	T	0.53	.	4.7532	0.13071	0.2675:0.0:0.7325:0.0	.	47;203;203;203;203;203;249;203	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	T	203;203;203;203;203;203;203;203;47	ENSP00000365387:A203T;ENSP00000365386:A203T;ENSP00000379221:A203T;ENSP00000365381:A203T;ENSP00000306167:A203T;ENSP00000277120:A203T;ENSP00000314586:A203T;ENSP00000352906:A203T;ENSP00000379207:A47T	ENSP00000277120:A203T	A	+	1	0	NTRK2	86528331	0.010000	0.17322	0.901000	0.35422	0.850000	0.48378	1.337000	0.33862	2.807000	0.96579	0.591000	0.81541	GCA		0.398	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			5	394	0	0	0	1	0	5	394					A	87338511	G	A	87338511	3	1	71	1	0	0	0	0	1	0	0	0	10749	1087	38	1	629	1	NTRK2	9	87338511	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8019512	87338511	53874920	91	8792											
ZNF462	58499	broad.mit.edu	37	chr9	109686870	109686870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagaggttgtggagcGcagcatcttagagtctatgg	15	8	2	2	rs374076395		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:109686870G>A	ENST00000277225.5	+	3	966	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	226					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTGTGGAGCGCAGCATCTTA	0.582																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(676-678)cGc>cAc		zinc finger protein 462		G	HIS/ARG	0,4406		0,0,2203	61	60	60		677	5.8	1	9		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF462	NM_021224.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	226/2507	109686870	1,13005	2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686870G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.677G>A	9.37:g.109686870G>A	ENSP00000277225:p.Arg226His					ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H	p.R226H			Q96JM2	ZN462_HUMAN			3	966	+			226					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.677G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176741	0.57692	0.0	1.16E-4	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08102	3.13;3.58	5.82	5.82	0.92795	.	0.117145	0.64402	D	0.000013	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	T	0.01249	-1.1406	9	.	.	.	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	226;226	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	226	ENSP00000277225:R226H;ENSP00000414570:R226H	.	R	+	2	0	ZNF462	108726691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.515000	0.67049	2.761000	0.94854	0.655000	0.94253	CGC		0.582	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	364	0	0	0	1	0	6	364					A	109686870	G	A	109686870	3	1	71	1	0	0	0	0	1	0	0	0	17979	1087	38	1	683	1	ZNF462	9	109686870	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22348359	109686870	31526561	92	8793											
CRAT	1384	broad.mit.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-													tggttcatgcacagtggcttCccccccaggtactccacggg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-495)ggfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)						196	189	191					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864814delC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs					CRAT_ENST00000464290.1_5'UTR	p.G165fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789	-			165					Q5T952|Q9BW16	Frame_Shift_Del	DEL	ENST00000318080.2	37	c.495delG	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	2021						7	2021	---	---	---	---	-	131864814	C	-	131864814	7	5	71	1	0	1	0	1	0	0	0	0	3856	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	22177944	131864814	9348617	93	8794											
OGDHL	55753	broad.mit.edu	37	chr10	50946000	50946000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggagactcaccggcttgCggaagggcagcaggatctgc	16	11	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:50946000C>T	ENST00000374103.4	-	19	2595	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R628H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R780H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	837					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.R837L(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						CACCGGCTTGCGGAAGGGCAG	0.647																																						ENST00000374103.4																			1	Substitution - Missense(1)	p.R837L(1)	pancreas(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						c.(2509-2511)cGc>cAc		oxoglutarate dehydrogenase-like							103	107	105					10																	50946000		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946000C>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.2510G>A	10.37:g.50946000C>T	ENSP00000363216:p.Arg837His					OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R628H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R780H	p.R837H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			19	2595	-			837					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2510G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939356	0.92526	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92545	-3.06;-3.06;-3.06	5.05	4.14	0.48551	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.84773	2.715	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	0.96219	0.9159	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.9228:0.0:0.0772	.	780;628;837	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	837;780;628	ENSP00000363216:R837H;ENSP00000401356:R780H;ENSP00000390240:R628H	ENSP00000363216:R837H	R	-	2	0	OGDHL	50616006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.803000	0.85983	1.111000	0.41721	0.650000	0.86243	CGC		0.647	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		8	1084	0	0	0	1	0	8	1084					T	50946000	C	T	50946000	3	4	71	1	0	0	0	0	1	0	0	0	10882	768	27	1	542	1	OGDHL	10	50946000	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		50946000	84588747	94	8795											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489912	72489912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcctggagcaggtgtgtCgctgggcacactcccagcag	15	13	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:72489912C>T	ENST00000373207.1	+	6	1009	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R337C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCAGGTGTGTCGCTGGGCACA	0.667																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1009-1011)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							77	71	73					10																	72489912		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489912C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1009C>T	10.37:g.72489912C>T	ENSP00000362303:p.Arg337Cys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R337C	p.R337C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			6	1009	+			337			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1009C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163344	0.94727	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.64260	-0.09;-0.09	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	D	0.84031	0.0359	10	0.87932	D	0	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	337;337	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	C	337	ENSP00000362304:R337C;ENSP00000362303:R337C	ENSP00000362303:R337C	R	+	1	0	ADAMTS14	72159918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.739000	0.68622	2.608000	0.88229	0.655000	0.94253	CGC		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		35	414	0	0	0	1	0	35	414					T	72489912	C	T	72489912	3	4	71	1	0	0	0	0	1	0	0	0	259	884	31	1	1031	1	ADAMTS14	10	72489912	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	21543912	72489912	63044835	95	8796											
DNTT	1791	broad.mit.edu	37	chr10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaagaagaaatttttgCgcatctgggattggattata	11	3	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1480-1482)gCg>gTg		DNA nucleotidylexotransferase							119	118	119					10																	98097935		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097935C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val					DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	p.A494V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1651	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	495			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1481C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG		0.333	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		5	438	0	0	0	1	0	5	438					T	98097935	C	T	98097935	3	4	71	1	0	0	0	0	1	0	0	0	4696	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	25608023	98097935	37436812	96	8797											
SFXN3	81855	broad.mit.edu	37	chr10	102798946	102798946	+	Frame_Shift_Del	DEL	C	C	-													ccccagcctggtatttgcaaCccccctgtgctgtgccctat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:102798946delC	ENST00000224807.5	+	11	1304	c.848delC	c.(847-849)accfs	p.T283fs	SFXN3_ENST00000393459.1_Frame_Shift_Del_p.T279fs|SFXN3_ENST00000466982.1_3'UTR	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	283					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GTATTTGCAACCCCCCTGTGC	0.577																																						ENST00000393459.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(835-837)acfs		sideroflexin 3							102	91	95					10																	102798946		2203	4300	6503	SO:0001589	frameshift_variant	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102798946delC	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"Sideroflexins"	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.848delC	10.37:g.102798946delC	ENSP00000224807:p.Thr283fs					SFXN3_ENST00000224807.5_Frame_Shift_Del_p.T283fs|SFXN3_ENST00000466982.1_3'UTR	p.T279fs			Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	11	1309	+		Colorectal(252;0.234)	283					Q8NCJ0|Q9NTP4	Frame_Shift_Del	DEL	ENST00000224807.5	37	c.836delC	CCDS7508.2																																																																																				0.577	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		7	943						7	943	---	---	---	---	-	102798946	C	-	102798946	7	5	71	1	0	1	0	1	0	0	0	0	14246	507	18	0	886	0	SFXN3	10	102798946	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	4701011	102798946	32735801	97	8798											
PPRC1	23082	broad.mit.edu	37	chr10	103908248	103908248	+	Frame_Shift_Del	DEL	C	C	-													aagccgctcacgatccccatCcccccgccggagaagtgaca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:103908248delC	ENST00000278070.2	+	10	4559	c.4520delC	c.(4519-4521)tccfs	p.S1507fs	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Frame_Shift_Del_p.S474fs|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.S1243fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGATCCCCATCCCCCCGCCGG	0.557																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4519-4521)tcfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1							113	100	104					10																	103908248		2203	4300	6503	SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908248delC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4520delC	10.37:g.103908248delC	ENSP00000278070:p.Ser1507fs					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.S1243fs|PPRC1_ENST00000370012.1_Frame_Shift_Del_p.S474fs	p.S1507fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4559	+		Colorectal(252;0.122)	1507			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Del	DEL	ENST00000278070.2	37	c.4520delC	CCDS7529.1																																																																																				0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	1805						7	1805	---	---	---	---	-	103908248	C	-	103908248	7	5	71	1	0	1	0	1	0	0	0	0	12457	855	30	0	4558	0	PPRC1	10	103908248	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	1109302	103908248	31626499	98	8799											
COL17A1	1308	broad.mit.edu	37	chr10	105799216	105799216	+	Frame_Shift_Del	DEL	G	G	-													cactgacctttgtcacctttGggtccctgggggccaggtgg					rs2296219	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:105799216delG	ENST00000353479.5	-	43	3173	c.2883delC	c.(2881-2883)cccfs	p.P961fs	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	961	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCACCTTTGGGTCCCTGGG	0.597																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2881-2883)ccfs		collagen, type XVII, alpha 1							69	69	69					10																	105799216		2203	4300	6503	SO:0001589	frameshift_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105799216delG	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2883delC	10.37:g.105799216delG	ENSP00000340937:p.Pro961fs					COL17A1_ENST00000369733.3_Intron	p.P961fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	43	3173	-		Colorectal(252;0.103)|Breast(234;0.122)	961			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	37	c.2883delC	CCDS7554.1																																																																																				0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		8	448						8	448	---	---	---	---	-	105799216	G	-	105799216	7	5	71	1	0	1	0	1	0	0	0	0	3683	1335	47	0	1666	0	COL17A1	10	105799216	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	1890968	105799216	29735531	99	8800											
HMX2	3167	broad.mit.edu	37	chr10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C													gtaaagacttggttccagaaINSccgccgcaacaagtggaagc					rs369511308		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-600)aaccgcfs	p.R200fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGTTCCAGAACCGCCGCAACA	0.649																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(595-597)acgfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909413_124909414insC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.598dupC	10.37:g.124909415_124909415dupC	ENSP00000341108:p.Arg200fs						p.T199fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	853_854	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	199					B2RNV5	Frame_Shift_Ins	INS	ENST00000339992.3	37	c.596_597insC	CCDS31305.1																																																																																				0.649	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		7	210						7	210	---	---	---	---	C	124909414	-	C	124909413	7	5	71	1	0	1	1	0	0	0	0	0	7277	43	2	0	602	0	HMX2	10	124909413	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	19110197	124909413	10625334	100	8801											
CTR9	9646	broad.mit.edu	37	chr11	10776660	10776660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacaggctcggaaagaAaagaataaggacaataaaaa	9	5	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:10776660A>G	ENST00000361367.2	+	3	726	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	100					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCGGAAAGAAAAGAATAAGG	0.358																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(298-300)gaA>gaG		CTR9, Paf1/RNA polymerase II complex component							108	112	111					11																	10776660		2201	4294	6495	SO:0001819	synonymous_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10776660A>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.300A>G	11.37:g.10776660A>G							p.E100E	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	3	726	+			100					D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.300A>G	CCDS7805.1																																																																																				0.358	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		6	614	0	0	0	1	0	6	614					G	10776660	A	G	10776660	2	3	71	1	0	0	0	0	0	0	0	1	4035	11	1	4		4	CTR9	11	10776660	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		10776660	124229856	101	8802											
PTPRJ	5795	broad.mit.edu	37	chr11	48168446	48168446	+	Frame_Shift_Del	DEL	T	T	-													aggtgtcatctgtggagcggTttttggctgtatctttggtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:48168446delT	ENST00000418331.2	+	15	3282	c.2930delT	c.(2929-2931)gttfs	p.V977fs		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	977					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTGGAGCGGTTTTTGGCTGT	0.448																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2929-2931)gtfs		protein tyrosine phosphatase, receptor type, J							323	284	297					11																	48168446		2201	4298	6499	SO:0001589	frameshift_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48168446delT	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2930delT	11.37:g.48168446delT	ENSP00000400010:p.Val977fs						p.V977fs	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			15	3282	+			977					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Frame_Shift_Del	DEL	ENST00000418331.2	37	c.2930delT	CCDS7945.1																																																																																				0.448	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			7	1531						7	1531	---	---	---	---	-	48168446	T	-	48168446	7	5	71	1	0	1	0	1	0	0	0	0	12854	1725	60	0	2997	0	PTPRJ	11	48168446	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	37391786	48168446	86838070	102	8803											
OR4C11	219429	broad.mit.edu	37	chr11	55371698	55371698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggggcttcctagtgtcCggctggacttgatggtcaca	13	10	1	1	rs140943798		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:55371698C>T	ENST00000302231.4	-	1	176	c.152G>A	c.(151-153)cGg>cAg	p.R51Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCCTAGTGTCCGGCTGGACTT	0.408													c|||	1	0.000199681	0.0008	0.0	5008	,	,		12783	0.0		0.0	False		,,,				2504	0.0					ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(151-153)cGg>cAg		olfactory receptor, family 4, subfamily C, member 11		C	GLN/ARG	0,4358		0,0,2179	76	72	74		152	-3.5	0	11	dbSNP_134	74	12,7998		2,8,3995	yes	missense	OR4C11	NM_001004700.2	43	2,8,6174	TT,TC,CC		0.1498,0.0,0.097	benign	51/311	55371698	12,12356	2179	4005	6184	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371698C>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.152G>A	11.37:g.55371698C>T	ENSP00000306651:p.Arg51Gln						p.R51Q	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	176	-			51					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.152G>A	CCDS31503.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.153505	0.00325	0.0	0.001498	ENSG00000172188	ENST00000302231	T	0.01076	5.37	4.34	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	0.915015	0.09091	N	0.849832	T	0.00666	0.0022	N	0.05414	-0.055	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.46541	-0.9184	10	0.16896	T	0.51	.	6.9427	0.24502	0.0:0.2633:0.1376:0.5991	.	51	Q6IEV9	OR4CB_HUMAN	Q	51	ENSP00000306651:R51Q	ENSP00000306651:R51Q	R	-	2	0	OR4C11	55128274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.195000	0.00563	-0.427000	0.07350	-0.701000	0.03672	CGG		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		67	545	0	0	0	1	0	67	545					T	55371698	C	T	55371698	3	4	71	1	0	0	0	0	1	0	0	0	11087	652	23	1	782	1	OR4C11	11	55371698	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7203252	55371698	79634818	103	8804											
HTR3A	3359	broad.mit.edu	37	chr11	113857759	113857759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaagccaccaagactgatGactgctcaggtgagaaacag	10	12	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:113857759G>A	ENST00000504030.2	+	8	1574	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	377					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CAAGACTGATGACTGCTCAGG	0.582																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1129-1131)Gac>Aac		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						26	29	28					11																	113857759		2197	4292	6489	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857759G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1129G>A	11.37:g.113857759G>A	ENSP00000424189:p.Asp377Asn					HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N	p.D377N			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1574	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	377					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1129G>A		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383357	0.25031	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.83914	-1.78;1.9;-1.78;1.9;-1.78;-1.78	5.5	3.26	0.37387	.	1.090970	0.06727	N	0.775992	T	0.76772	0.4034	L	0.38175	1.15	0.38660	D	0.952058	B;B;B	0.14012	0.002;0.008;0.009	B;B;B	0.19666	0.01;0.012;0.026	T	0.64162	-0.6472	10	0.29301	T	0.29	-20.6259	9.712	0.40251	0.2049:0.0:0.7951:0.0	.	362;415;383	B4DSY6;G5E986;Q7KZM7	.;.;.	N	377;415;383;409;121;362	ENSP00000424189:D377N;ENSP00000347754:D415N;ENSP00000364648:D383N;ENSP00000424776:D409N;ENSP00000437776:D121N;ENSP00000299961:D362N	ENSP00000299961:D362N	D	+	1	0	HTR3A	113362969	0.956000	0.32656	0.839000	0.33178	0.112000	0.19704	1.552000	0.36244	1.459000	0.47892	0.655000	0.94253	GAC		0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		10	416	0	0	0	1	0	10	416					A	113857759	G	A	113857759	3	1	71	1	0	0	0	0	1	0	0	0	7474	1290	45	2	1295	2	HTR3A	11	113857759	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	58486061	113857759	21148757	104	8805											
TECTA	7007	broad.mit.edu	37	chr11	120998885	120998885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctacgccttcccctcCgagttctcctacaccctcct	4	22	1	0	rs397517145		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:120998885C>T	ENST00000392793.1	+	9	2470	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	TECTA_ENST00000264037.2_Silent_p.S733S			O75443	TECTA_HUMAN	tectorin alpha	733	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTCCCCTCCGAGTTCTCCT	0.612																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2197-2199)tcC>tcT		tectorin alpha							99	89	93					11																	120998885		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998885C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2199C>T	11.37:g.120998885C>T						TECTA_ENST00000264037.2_Silent_p.S733S	p.S733S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2470	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	733			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2199C>T	CCDS8434.1																																																																																				0.612	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		190	683	0	0	0	1	0	190	683					T	120998885	C	T	120998885	2	4	71	1	0	0	0	0	0	0	0	1	15799	639	23	1		1	TECTA	11	120998885	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7141126	120998885	14007631	105	8806											
GLB1L3	112937	broad.mit.edu	37	chr11	134181005	134181005	+	Frame_Shift_Del	DEL	C	C	-													ttcctcccaaggctgtgtatCcccccgtgagaccgtcgctg					rs370128549		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:134181005delC	ENST00000431683.2	+	13	1228	c.1228delC	c.(1228-1230)cccfs	p.P411fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	411					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGCTGTGTATCCCCCCGTGAG	0.602																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1228-1230)ccfs		galactosidase, beta 1-like 3							209	215	213					11																	134181005		2033	4179	6212	SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181005delC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1228delC	11.37:g.134181005delC	ENSP00000396615:p.Pro411fs						p.P411fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	411					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Del	DEL	ENST00000431683.2	37	c.1228delC	CCDS44780.1																																																																																				0.602	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	2601						11	2601	---	---	---	---	-	134181005	C	-	134181005	7	5	71	1	0	1	0	1	0	0	0	0	6459	855	30	0	1278	0	GLB1L3	11	134181005	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	13182120	134181005	825511	106	8807											
CAPZA3	93661	broad.mit.edu	37	chr12	18891410	18891410	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcatcgatggaaatccaGtactcttgtctcaccacaat	6	12	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:18891410G>C	ENST00000317658.3	+	1	366	c.208G>C	c.(208-210)Gta>Cta	p.V70L	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	70					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGGAAATCCAGTACTCTTGTC	0.423																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(208-210)Gta>Cta		capping protein (actin filament) muscle Z-line, alpha 3							118	107	111					12																	18891410		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891410G>C	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.208G>C	12.37:g.18891410G>C	ENSP00000326238:p.Val70Leu						p.V70L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	366	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	70					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.208G>C	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661852	0.67700	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.76849	0.4045	M	0.72353	2.195	0.41152	D	0.986031	D	0.63046	0.992	D	0.76071	0.987	T	0.80065	-0.1538	9	0.72032	D	0.01	-16.3283	13.8066	0.63236	0.0:0.0:1.0:0.0	.	70	Q96KX2	CAZA3_HUMAN	L	70	.	ENSP00000326238:V70L	V	+	1	0	CAPZA3	18782677	0.990000	0.36364	0.889000	0.34880	0.991000	0.79684	4.256000	0.58810	2.278000	0.76064	0.462000	0.41574	GTA		0.423	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		59	512	0	0	0	1	0	59	512					C	18891410	G	C	18891410	3	2	71	1	0	0	0	0	1	0	0	0	2649	1029	36	5	210	5	CAPZA3	12	18891410	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		18891410	114960485	107	8808											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	88	1	0	2.80697e-09	1	3.04204e-09	11	88					A	25398284	C	A	25398284	3	1	71	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6506874	25398284	108453611	108	8809											
ITPR2	3709	broad.mit.edu	37	chr12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-													caattcattgtcatcgtcccTttttttgttacctaaatcta							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					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)		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)	TCATCGTCCCTTTTTTTGTTA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(5509-5511)ggfs		inositol 1,4,5-trisphosphate receptor, type 2							206	188	193					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	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.chr12:26640046delT	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.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs						p.R1837fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5925	-	Colorectal(261;0.0847)		1837					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.5509delA	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	697						7	697	---	---	---	---	-	26640046	T	-	26640046	7	5	71	1	0	1	0	1	0	0	0	0	7951	1608	56	0	2668	0	ITPR2	12	26640046	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1241762	26640046	107211849	109	8810											
C12orf40	283461	broad.mit.edu	37	chr12	40076535	40076535	+	Frame_Shift_Del	DEL	G	G	-													acactcaatacagcatatttGggggaaaaatggaaaggaag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:40076535delG	ENST00000324616.5	+	8	963	c.809delG	c.(808-810)tggfs	p.W270fs	C12orf40_ENST00000405531.3_Frame_Shift_Del_p.W270fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.W193fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	270										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGCATATTTGGGGGAAAAAT	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(808-810)tgfs		chromosome 12 open reading frame 40							132	132	132					12																	40076535		1838	4083	5921	SO:0001589	frameshift_variant	283461							g.chr12:40076535delG	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.809delG	12.37:g.40076535delG	ENSP00000317671:p.Trp270fs					C12orf40_ENST00000405531.3_Frame_Shift_Del_p.W270fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.W193fs	p.W270fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	963	+			270					B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	37	c.809delG	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	802						8	802	---	---	---	---	-	40076535	G	-	40076535	7	5	71	1	0	1	0	1	0	0	0	0	1691	1357	47	0	839	0	C12orf40	12	40076535	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	13436489	40076535	93775360	110	8811											
ADCY6	112	broad.mit.edu	37	chr12	49164673	49164673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatcgtaggtgctggcGttcagccctgaggcagccat	13	12	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:49164673G>A	ENST00000307885.4	-	19	3826	c.3132C>T	c.(3130-3132)aaC>aaT	p.N1044N	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1044					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.N1044N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGTGCTGGCGTTCAGCCCTG	0.567																																						ENST00000307885.4																			1	Substitution - coding silent(1)	p.N1044N(1)	endometrium(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3130-3132)aaC>aaT		adenylate cyclase 6							114	96	102					12																	49164673		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164673G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3132C>T	12.37:g.49164673G>A						ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	p.N1044N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			19	3826	-			1044					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.3132C>T	CCDS8767.1																																																																																				0.567	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	427	0	0	0	1	0	5	427					A	49164673	G	A	49164673	2	1	71	1	0	0	0	0	0	0	0	1	298	1136	40	1		1	ADCY6	12	49164673	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	9088138	49164673	84687222	111	8812											
KRT4	3851	broad.mit.edu	37	chr12	53202186	53202186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccatgttggtcaaccgaGatctggagctgctggaccta	11	11	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000551956.1	-	6	1509	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	KRT4_ENST00000458244.2_Silent_p.I319I|KRT4_ENST00000293774.4_Silent_p.I413I			P19013	K2C4_HUMAN	keratin 4	353	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTCAACCGAGATCTGGAGCT	0.498																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1015-1017)atC>atT		keratin 4							93	94	94					12																	53202186		2185	4295	6480	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202186G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1017C>T	12.37:g.53202186G>A						KRT4_ENST00000293774.4_Silent_p.I413I|KRT4_ENST00000458244.2_Silent_p.I319I	p.I339I			B4DRS2	B4DRS2_HUMAN			6	1509	-			339					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.1017C>T	CCDS41787.2																																																																																				0.498	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		15	507	0	0	0	1	0	15	507					A	53202186	G	A	53202186	2	1	71	1	0	0	0	0	0	0	0	1	8507	932	33	2		2	KRT4	12	53202186	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4037513	53202186	80649709	112	8813											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1454						7	1454	---	---	---	---	-	56628999	CTG	-	56628997	7	5	71	1	0	1	0	1	0	0	0	0	14671	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08	3426811	56628997	77222898	113	8814											
LRIG3	121227	broad.mit.edu	37	chr12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G													ctgctattgtcaatatggcaINSggtccctttgaaacaaaaat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acctgcfs	p.C901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.C841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2698-2703)acgccafs		leucine-rich repeats and immunoglobulin-like domains 3																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59268350_59268351insG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2701dupC	12.37:g.59268352_59268352dupG	ENSP00000326759:p.Cys901fs					LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	p.P901fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		17	2986_2987	-			901					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.2700_2701insC	CCDS8960.1																																																																																				0.401	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		10	537						10	537	---	---	---	---	G	59268351	-	G	59268350	7	5	71	1	0	1	1	0	0	0	0	0	8984	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	2639353	59268350	74583545	114	8815											
ACSS3	79611	broad.mit.edu	37	chr12	81568670	81568670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcaattagagcaatccGtcaacaggaccctggggcag	11	11	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:81568670G>A	ENST00000548058.1	+	8	2112	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	401						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGAGCAATCCGTCAACAGGAC	0.502																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1201-1203)cGt>cAt		acyl-CoA synthetase short-chain family member 3							117	98	105					12																	81568670		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568670G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1202G>A	12.37:g.81568670G>A	ENSP00000449535:p.Arg401His					ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H|ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H	p.R401H			Q9H6R3	ACSS3_HUMAN			8	2112	+			401					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1202G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332027	0.95733	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40756	1.02;1.02;1.02	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57130	1.785	0.80722	D	1	P;D	0.89917	0.956;1.0	B;D	0.77004	0.412;0.989	T	0.63769	-0.6562	10	0.72032	D	0.01	-13.3289	20.126	0.97982	0.0:0.0:1.0:0.0	.	83;401	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	H	401;400;83	ENSP00000449535:R401H;ENSP00000261206:R400H;ENSP00000448965:R83H	ENSP00000261206:R400H	R	+	2	0	ACSS3	80092801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.056000	0.93881	2.749000	0.94314	0.655000	0.94253	CGT		0.502	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		15	279	0	0	0	1	0	15	279					A	81568670	G	A	81568670	3	1	71	1	0	0	0	0	1	0	0	0	190	1145	40	1	1232	1	ACSS3	12	81568670	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22300320	81568670	52283225	115	8816											
LRRC43	254050	broad.mit.edu	37	chr12	122669269	122669269	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccatccggaacccgctgacGatcacagacaccttcttcta	7	16	3	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:122669269G>T	ENST00000339777.4	+	2	382	c.354G>T	c.(352-354)acG>acT	p.T118T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	118										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCGCTGACGATCACAGACA	0.582																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(352-354)acG>acT		leucine rich repeat containing 43							42	43	43					12																	122669269		2005	4166	6171	SO:0001819	synonymous_variant	254050							g.chr12:122669269G>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.354G>T	12.37:g.122669269G>T						LRRC43_ENST00000425921.1_5'UTR	p.T118T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	382	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		118					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.354G>T	CCDS45001.1																																																																																				0.582	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	124	1	0	6.72482e-11	1	7.3605e-11	16	124					T	122669269	G	T	122669269	2	4	71	1	0	0	0	0	0	0	0	1	9039	1045	37	3		3	LRRC43	12	122669269	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	41100599	122669269	11182626	116	8817											
PARP4	143	broad.mit.edu	37	chr13	25044068	25044068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccattgatgaaggcttcGaagccacacacagcggcctt	9	13	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2008-2010)ttC>ttT		poly (ADP-ribose) polymerase family, member 4							90	69	76					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25044068G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A							p.F670F	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	16	2115	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	670			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2010C>T	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		5	224	0	0	0	1	0	5	224					A	25044068	G	A	25044068	2	1	71	1	0	0	0	0	0	0	0	1	11505	1049	37	1		1	PARP4	13	25044068	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		25044068	90125810	117	8818											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	8	485						8	485	---	---	---	---	-	27250863	GT	-	27250862	8	5	71	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-HZ-8637-01A-11D-2396-08	2206794	27250862	87919016	118	8819											
LCP1	3936	broad.mit.edu	37	chr13	46718595	46718595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgtacaaatgattgactCgagggttaacacccagggag	11	9	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46718595C>T	ENST00000398576.2	-	14	1623	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGATTGACTCGAGGGTTAAC	0.423			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)cGa>cAa		lymphocyte cytosolic protein 1 (L-plastin)							129	119	122					13																	46718595		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718595C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1235G>A	13.37:g.46718595C>T	ENSP00000381581:p.Arg412Gln					LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q	p.R412Q			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1623	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1235G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492704	0.64074	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94828	-3.53;-3.53	5.91	5.07	0.68467	Calponin homology domain (5);	0.117460	0.64402	N	0.000014	D	0.89969	0.6869	L	0.33624	1.015	0.80722	D	1	P	0.39060	0.657	B	0.35353	0.201	D	0.88903	0.3354	10	0.37606	T	0.19	-1.5	14.0981	0.65037	0.0:0.9281:0.0:0.0719	.	412	P13796	PLSL_HUMAN	Q	412	ENSP00000315757:R412Q;ENSP00000381581:R412Q	ENSP00000315757:R412Q	R	-	2	0	LCP1	45616596	0.989000	0.36119	0.995000	0.50966	0.996000	0.88848	2.576000	0.46033	1.507000	0.48752	0.555000	0.69702	CGA		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		15	345	0	0	0	1	0	15	345					T	46718595	C	T	46718595	3	4	71	1	0	0	0	0	1	0	0	0	8722	884	31	1	672	1	LCP1	13	46718595	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	19467733	46718595	68451283	119	8820											
PCDH9	5101	broad.mit.edu	37	chr13	67802512	67802512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataagttcttgagctattgCggaatccagccttaaacagg	9	8	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:67802512C>T	ENST00000377865.2	-	1	195	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A21T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T			Q9HC56	PCDH9_HUMAN	protocadherin 9	21					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A21T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGAGCTATTGCGGAATCCAGC	0.383																																						ENST00000544246.1																			1	Substitution - Missense(1)	p.A21T(1)	endometrium(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(61-63)Gca>Aca		protocadherin 9							73	73	73					13																	67802512		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802512C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.61G>A	13.37:g.67802512C>T	ENSP00000367096:p.Ala21Thr					PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000377865.2_Missense_Mutation_p.A21T	p.A21T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	752	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	21					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.61G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463505	0.26248	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54866	0.61;0.61;0.55;0.55;0.57	5.82	5.82	0.92795	.	0.104012	0.64402	D	0.000003	T	0.45657	0.1353	L	0.29908	0.895	0.45490	D	0.998456	B;B;B;B	0.21071	0.051;0.0;0.005;0.022	B;B;B;B	0.15870	0.006;0.0;0.014;0.006	T	0.23583	-1.0184	10	0.41790	T	0.15	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	21;21;21;21	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	21	ENSP00000442186:A21T;ENSP00000367096:A21T;ENSP00000401699:A21T;ENSP00000332060:A21T;ENSP00000367092:A21T	ENSP00000332060:A21T	A	-	1	0	PCDH9	66700513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.754000	0.94517	0.650000	0.86243	GCA		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	389	0	0	0	1	0	5	389					T	67802512	C	T	67802512	3	4	71	1	0	0	0	0	1	0	0	0	11560	768	27	1	3668	1	PCDH9	13	67802512	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	21083917	67802512	47367366	120	8821											
TEP1	7011	broad.mit.edu	37	chr14	20851408	20851408	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagccgggcccgagcAgaggcctccagaggccccaa	12	18	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20851408A>C	ENST00000262715.5	-	27	4012	c.3972T>G	c.(3970-3972)tcT>tcG	p.S1324S	TEP1_ENST00000556935.1_Silent_p.S1216S|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCCCGAGCAGAGGCCTCCA	0.647																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3970-3972)tcT>tcG		telomerase-associated protein 1							32	35	34					14																	20851408		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20851408A>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3972T>G	14.37:g.20851408A>C						TEP1_ENST00000556935.1_Silent_p.S1216S	p.S1324S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	27	4012	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1324			NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.3972T>G	CCDS9548.1																																																																																				0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		21	199	0	0	0	1	0	21	199					C	20851408	A	C	20851408	2	2	71	1	0	0	0	0	0	0	0	1	15811	175	7	4		4	TEP1	14	20851408	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		20851408	86498132	121	8822											
MMP14	4323	broad.mit.edu	37	chr14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-													cttctgttcctgataaacccAaaaaccccacctatgggccc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aaafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGATAAACCCAAAAACCCCAC	0.577																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(928-930)aafs		matrix metallopeptidase 14 (membrane-inserted)							107	115	112					14																	23312996		2203	4300	6503	SO:0001589	frameshift_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312996delA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.928delA	14.37:g.23312996delA	ENSP00000308208:p.Lys310fs					MMP14_ENST00000548162.1_3'UTR	p.K310fs	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	6	1189	+	all_cancers(95;9.47e-05)		310					A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	c.928delA	CCDS9577.1																																																																																				0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		7	1283						7	1283	---	---	---	---	-	23312996	A	-	23312996	7	5	71	1	0	1	0	1	0	0	0	0	9694	131	5	0	950	0	MMP14	14	23312996	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	2461588	23312996	84036544	122	8823											
REC8	9985	broad.mit.edu	37	chr14	24642564	24642564	+	Frame_Shift_Del	DEL	T	T	-													tagaagatgctccagatcccTtttttgggatgatgtctgtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:24642564delT	ENST00000311457.3	+	6	1005	c.406delT	c.(406-408)tttfs	p.F137fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.F137fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	137					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCAGATCCCTTTTTTGGGAT	0.532																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(406-408)ttfs		REC8 meiotic recombination protein							194	199	197					14																	24642564		1969	4152	6121	SO:0001589	frameshift_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642564delT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.406delT	14.37:g.24642564delT	ENSP00000308699:p.Phe137fs					REC8_ENST00000559919.1_Frame_Shift_Del_p.F137fs	p.F137fs			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	1005	+			137					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Del	DEL	ENST00000311457.3	37	c.406delT	CCDS41932.1																																																																																				0.532	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		7	1443						7	1443	---	---	---	---	-	24642564	T	-	24642564	7	5	71	1	0	1	0	1	0	0	0	0	13249	1609	56	0	424	0	REC8	14	24642564	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1329568	24642564	82706976	123	8824											
NPAS3	64067	broad.mit.edu	37	chr14	34269751	34269751	+	Frame_Shift_Del	DEL	G	G	-													gcccccgtcgcctccgacccGctgtcacccccgctctcggc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:34269751delG	ENST00000356141.4	+	12	2238	c.2238delG	c.(2236-2238)ccgfs	p.P746fs	NPAS3_ENST00000551492.1_Frame_Shift_Del_p.P751fs|NPAS3_ENST00000346562.2_Frame_Shift_Del_p.P714fs|NPAS3_ENST00000548645.1_Frame_Shift_Del_p.P716fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.P733fs			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	746	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTCCGACCCGCTGTCACCCC	0.841																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2140-2142)ccfs		neuronal PAS domain protein 3																																				SO:0001589	frameshift_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269751delG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2238delG	14.37:g.34269751delG	ENSP00000348460:p.Pro746fs					NPAS3_ENST00000548645.1_Frame_Shift_Del_p.P716fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.P733fs|NPAS3_ENST00000356141.4_Frame_Shift_Del_p.P746fs|NPAS3_ENST00000551492.1_Frame_Shift_Del_p.P751fs	p.P714fs	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2216	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		746			Gly-rich.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Frame_Shift_Del	DEL	ENST00000356141.4	37	c.2142delG	CCDS53891.1																																																																																				0.841	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			2	4						2	4	---	---	---	---	-	34269751	G	-	34269751	7	5	71	1	0	1	0	1	0	0	0	0	10606	1074	38	0	2339	0	NPAS3	14	34269751	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	9627187	34269751	73079789	124	8825											
KIAA1409	57578	broad.mit.edu	37	chr14	94038340	94038340	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctataatgtgatcaatcaatCtgtctgggagtgtattatgc	9	6	4	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:94038340C>A	ENST00000393151.2	+	15	1856	c.1856C>A	c.(1855-1857)tCt>tAt	p.S619Y	UNC79_ENST00000553484.1_Missense_Mutation_p.S619Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S442Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S619Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	619					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCAATCAATCTGTCTGGGAG	0.458																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1855-1857)tCt>tAt		unc-79 homolog (C. elegans)							89	85	87					14																	94038340		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94038340C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1856C>A	14.37:g.94038340C>A	ENSP00000376858:p.Ser619Tyr					UNC79_ENST00000393151.2_Missense_Mutation_p.S619Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S442Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S619Y	p.S619Y			Q9P2D8	UNC79_HUMAN			15	2010	+			619					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1856C>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312739	0.60414	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.83	5.83	0.93111	.	0.131908	0.49916	D	0.000137	T	0.11452	0.0279	N	0.08118	0	0.37678	D	0.923394	P	0.41569	0.755	B	0.34301	0.179	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.7204	14.9138	0.70778	0.1431:0.8569:0.0:0.0	.	619	C9JQL1	.	Y	442;619;619;619;619	ENSP00000256339:S442Y;ENSP00000450868:S619Y;ENSP00000451360:S619Y;ENSP00000376858:S619Y	ENSP00000256339:S442Y	S	+	2	0	KIAA1409	93108093	1.000000	0.71417	0.986000	0.45419	0.820000	0.46376	5.662000	0.68032	2.766000	0.95052	0.650000	0.86243	TCT		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	343	1	0	6.40141e-05	1	6.80343e-05	12	343					A	94038340	C	A	94038340	3	1	71	1	0	0	0	0	1	0	0	0	8260	913	32	3	1371	3	KIAA1409	14	94038340	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	59768589	94038340	13311200	125	8826											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		11	951						11	951	---	---	---	---	-	95921890	CTC	-	95921888	7	5	71	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-HZ-8637-01A-11D-2396-08	1883548	95921888	11427652	126	8827											
BEGAIN	57596	broad.mit.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-													cgggaaggccgccgcctcggCctcctcctcctcctcggccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(622-627)gcc>g		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del	p.EA210del			Q9BUH8	BEGIN_HUMAN			5	4027_4029	-		Melanoma(154;0.212)	274					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.623_625delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		8	182						8	182	---	---	---	---	-	101005273	CCT	-	101005271	7	5	71	1	0	1	0	1	0	0	0	0	1398	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-HZ-8637-01A-11D-2396-08	5083383	101005271	6344269	127	8828											
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttcttcatcaacaccGaaagggacgatgactatgct	8	12	3	1	rs566389840		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205	208	207					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		9	1514	0	0	0	1	0	9	1514					A	39885651	G	A	39885651	3	1	71	1	0	0	0	0	1	0	0	0	15905	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		39885651	62645741	128	8829											
SPTBN5	51332	broad.mit.edu	37	chr15	42147503	42147503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaggcgtcgaggagcagGgtctctcgctccagctggtg	16	12	1	0	rs577570685	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:42147503G>T	ENST00000320955.6	-	55	9569	c.9342C>A	c.(9340-9342)acC>acA	p.T3114T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3114					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGGAGCAGGGTCTCTCGCT	0.682																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9340-9342)acC>acA		spectrin, beta, non-erythrocytic 5							22	27	25					15																	42147503		2048	4175	6223	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147503G>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9342C>A	15.37:g.42147503G>T							p.T3114T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9569	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3114						Silent	SNP	ENST00000320955.6	37	c.9342C>A																																																																																					0.682	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		13	149	1	0	9.31168e-06	1	9.94451e-06	13	149					T	42147503	G	T	42147503	2	4	71	1	0	0	0	0	0	0	0	1	15174	1219	43	3		3	SPTBN5	15	42147503	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2261852	42147503	60383889	129	8830											
SPPL2A	84888	broad.mit.edu	37	chr15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagcaggttgccccTttttcatcagcaccagaaca	10	11	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	460					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1378-1380)aAg>aGg		signal peptide peptidase like 2A							128	111	117					15																	51012246		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51012246T>C		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1379A>G	15.37:g.51012246T>C	ENSP00000261854:p.Lys460Arg						p.K460R	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	14	1653	-			460					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.1379A>G	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG		0.408	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		6	437	0	0	0	1	0	6	437					C	51012246	T	C	51012246	3	2	71	1	0	0	0	0	1	0	0	0	15140	1609	56	4	191	4	SPPL2A	15	51012246	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	8864743	51012246	51519146	130	8831											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		13	705						13	705	---	---	---	---	-	59144134	GCT	-	59144132	7	5	71	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-HZ-8637-01A-11D-2396-08	8131886	59144132	43387260	131	8832											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	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.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		13	448						13	448	---	---	---	---	-	29994533	GAG	-	29994531	7	5	71	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-HZ-8637-01A-11D-2396-08		29994531	60360222	132	8833											
FUS	2521	broad.mit.edu	37	chr16	31201632	31201634	+	In_Frame_Del	DEL	GTG	GTG	-													aggctatggaggtggtggcaGtggtggtggtggccgaggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:31201632_31201634delGTG	ENST00000254108.7	+	12	1310_1312	c.1205_1207delGTG	c.(1204-1209)agtggt>agt	p.G406del	FUS_ENST00000380244.3_In_Frame_Del_p.G405del|FUS_ENST00000568685.1_In_Frame_Del_p.G407del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	406	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggcagtggtggtggtgg	0.557			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"fusion, derived from t(12;16) malignant liposarcoma"			"M, L"	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"		"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1204-1209)agt>a		fused in sarcoma																																				SO:0001651	inframe_deletion	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31201632_31201634delGTG	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1205_1207delGTG	16.37:g.31201641_31201643delGTG	ENSP00000254108:p.Gly406del					FUS_ENST00000380244.3_In_Frame_Del_p.SG401del|FUS_ENST00000568685.1_In_Frame_Del_p.SG403del|FUS_ENST00000474990.1_3'UTR	p.SG402del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	12	1310_1312	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	402			Arg/Gly-rich.		Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	c.1205_1207delGTG	CCDS10707.1																																																																																				0.557	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		7	555						7	555	---	---	---	---	-	31201634	GTG	-	31201632	7	5	71	1	0	1	0	1	0	0	0	0	6127	1029	36	0	1251	0	FUS	16	31201632	In_Frame_Del	DEL	GTG	TCGA-HZ-8637-01A-11D-2396-08	1207101	31201632	59153121	133	8834											
CNGB1	1258	broad.mit.edu	37	chr16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-													actcagtcacctcctcctctTcctcctcctcctcctcttcc					rs141566950|rs528199212		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:57983275_57983277delTCC	ENST00000251102.8	-	14	1161_1163	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_ENST00000564654.1_5'Flank|CNGB1_ENST00000564448.1_In_Frame_Del_p.361_362EE>E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	367	Poly-Glu.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1081-1086)gaa>ga		cyclic nucleotide gated channel beta 1				50,422,3678		24,0,2,33,356,1660						-4.3	0.1		dbSNP_134	89	253,4,7879		123,0,7,0,4,3934	no	codingComplex	CNGB1	NM_001297.4		147,0,9,33,360,5594	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1588,11.3735,5.9336				303,426,11557				SO:0001651	inframe_deletion	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57983275_57983277delTCC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1101_1103delGGA	16.37:g.57983284_57983286delTCC	ENSP00000251102:p.Glu371del					CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del	p.EE363del			Q14028	CNGB1_HUMAN			14	1143_1145	-			369			Poly-Glu.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	In_Frame_Del	DEL	ENST00000251102.8	37	c.1083_1085delGGA	CCDS42169.1																																																																																				0.586	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	430						7	430	---	---	---	---	-	57983277	TCC	-	57983275	7	5	71	1	0	1	0	1	0	0	0	0	3609	1783	62	0	2732	0	CNGB1	16	57983275	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	26781643	57983275	32371478	134	8835											
C16orf70	80262	broad.mit.edu	37	chr16	67180989	67180989	+	Frame_Shift_Del	DEL	C	C	-													gcctcggtgaccctgtatggCccccccaggcctggtagcca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67180989delC	ENST00000219139.3	+	16	1412	c.1224delC	c.(1222-1224)ggcfs	p.G408fs	C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCCTGTATGGCCCCCCCAGGC	0.597																																						ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)ggfs		chromosome 16 open reading frame 70				2,4262		0,2,2130	181	156	164			6.2	1	16		165	0,8254		0,0,4127	no	frameshift	C16orf70	NM_025187.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016			67180989	2,12516	2198	4300	6498	SO:0001589	frameshift_variant	80262							g.chr16:67180989delC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1224delC	16.37:g.67180989delC	ENSP00000219139:p.Gly408fs					C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Del	DEL	ENST00000219139.3	37	c.1224delC	CCDS10828.1																																																																																				0.597	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		8	976						8	976	---	---	---	---	-	67180989	C	-	67180989	7	5	71	1	0	1	0	1	0	0	0	0	1834	726	26	0	1286	0	C16orf70	16	67180989	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	9197714	67180989	23173764	135	8836											
HSF4	3299	broad.mit.edu	37	chr16	67203674	67203674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacttgggcccggaagccAgtccctccccctaagacccc	8	20	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67203674A>G	ENST00000521374.1	+	13	1465	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.S489G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S459G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	489					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCGGAAGCCAGTCCCTCCCC	0.667											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1465-1467)Agt>Ggt		heat shock transcription factor 4							40	46	44					16																	67203674		1851	4075	5926	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203674A>G	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1465A>G	16.37:g.67203674A>G	ENSP00000430947:p.Ser489Gly		OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000584272.1_Missense_Mutation_p.S459G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000521374.1_Missense_Mutation_p.S489G	p.S489G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2430	+		Ovarian(137;0.0563)	489					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1465A>G	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.29|11.29	1.593884|1.593884	0.28445|0.28445	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.47|3.47	0.39725|0.39725	.|.	.|0.322852	.|0.26812	.|N	.|0.022370	T|T	0.24509|0.24509	0.0594|0.0594	N|N	0.19112|0.19112	0.55|0.55	0.25125|0.25125	N|N	0.990618|0.990618	.|B;B	.|0.17268	.|0.021;0.012	.|B;B	.|0.21151	.|0.033;0.014	T|T	0.13656|0.13656	-1.0501|-1.0501	5|9	.|0.29301	.|T	.|0.29	-17.1419|-17.1419	6.2709|6.2709	0.20953|0.20953	0.8712:0.0:0.1288:0.0|0.8712:0.0:0.1288:0.0	.|.	.|459;489	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|G	220;132|459;489;413;489	.|.	.|ENSP00000264009:S489G	Q|S	+|+	2|1	0|0	HSF4|HSF4	65761175|65761175	0.525000|0.525000	0.26290|0.26290	0.986000|0.986000	0.45419|0.45419	0.152000|0.152000	0.21847|0.21847	0.176000|0.176000	0.16782|0.16782	0.841000|0.841000	0.35020|0.35020	0.460000|0.460000	0.39030|0.39030	CAG|AGT		0.667	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		36	592	0	0	0	1	0	36	592					G	67203674	A	G	67203674	3	3	71	1	0	0	0	0	1	0	0	0	7428	188	7	4	1529	4	HSF4	16	67203674	Missense_Mutation	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	22685	67203674	23151079	136	8837											
WWP2	11060	broad.mit.edu	37	chr16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcccagtggtgtccGcaaagcccaaggtgcataat	9	12	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|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 potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(79-81)Gca>Aca		WW domain containing E3 ubiquitin protein ligase 2							117	115	116					16																	69832593		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69832593G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.79G>A	16.37:g.69832593G>A	ENSP00000352069:p.Ala27Thr		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T	p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			3	180	+			27			C2.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.79G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		7	734	0	0	0	1	0	7	734					A	69832593	G	A	69832593	3	1	71	1	0	0	0	0	1	0	0	0	17470	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2628919	69832593	20522160	137	8838											
ANKRD11	29123	broad.mit.edu	37	chr16	89341354	89341354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcctgctcacaggatacGatcagcttctcctgaaggag	9	12	4	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:89341354G>A	ENST00000301030.4	-	11	8041	c.7581C>T	c.(7579-7581)atC>atT	p.I2527I	ANKRD11_ENST00000378330.2_Silent_p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2527					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACAGGATACGATCAGCTTCT	0.637																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7579-7581)atC>atT		ankyrin repeat domain 11							52	49	50					16																	89341354		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341354G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7581C>T	16.37:g.89341354G>A						ANKRD11_ENST00000378330.2_Silent_p.I2527I	p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8041	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2527					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7581C>T	CCDS32513.1																																																																																				0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		45	335	0	0	0	1	0	45	335					A	89341354	G	A	89341354	2	1	71	1	0	0	0	0	0	0	0	1	639	1048	37	1		1	ANKRD11	16	89341354	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	19508761	89341354	1013399	138	8839											
PHF23	79142	broad.mit.edu	37	chr17	7140034	7140034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccatcactgtcggccGcactctctcctcgcaatgga	8	18	2	0	rs563385673		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7140034G>A	ENST00000320316.3	-	4	438	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PHF23_ENST00000571362.1_Intron|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.A67V|PHF23_ENST00000576955.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	71							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ACTGTCGGCCGCACTCTCTCC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0					ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(211-213)gCg>gTg		PHD finger protein 23							68	75	73					17																	7140034		1929	4143	6072	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140034G>A	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.212C>T	17.37:g.7140034G>A	ENSP00000322579:p.Ala71Val					PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Missense_Mutation_p.A67V|PHF23_ENST00000570753.1_5'UTR	p.A71V	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	438	-			71					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.212C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992654	0.74703	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.32753	1.44;1.44	4.8	4.8	0.61643	.	0.141790	0.45606	D	0.000348	T	0.30355	0.0762	L	0.29908	0.895	0.42771	D	0.993835	D	0.61697	0.99	P	0.47470	0.548	T	0.08785	-1.0705	10	0.62326	D	0.03	-10.6011	15.399	0.74823	0.0:0.0:1.0:0.0	.	71	Q9BUL5	PHF23_HUMAN	V	71;67;71	ENSP00000322579:A71V;ENSP00000414607:A67V	ENSP00000043410:A71V	A	-	2	0	PHF23	7080758	0.993000	0.37304	0.992000	0.48379	0.795000	0.44927	2.697000	0.47060	2.488000	0.83962	0.557000	0.71058	GCG		0.552	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		8	922	0	0	0	1	0	8	922					A	7140034	G	A	7140034	3	1	71	1	0	0	0	0	1	0	0	0	11877	1087	38	1	1007	1	PHF23	17	7140034	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		7140034	74055176	139	8840											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		81	319	0	0	0	1	0	81	319					T	7577548	C	T	7577548	3	4	71	1	0	0	0	0	1	0	0	0	16434	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	437514	7577548	73617662	140	8841											
CHD3	1107	broad.mit.edu	37	chr17	7812062	7812062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatgatgctcaatttgCcattatcaacgagccattta	6	10	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7812062C>T	ENST00000330494.7	+	36	5459	c.5309C>T	c.(5308-5310)gCc>gTc	p.A1770V	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V|CHD3_ENST00000380358.4_Missense_Mutation_p.A1829V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1770	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCTCAATTTGCCATTATCAAC	0.463																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5485-5487)gCc>gTc		chromodomain helicase DNA binding protein 3							151	149	150					17																	7812062		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7812062C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5309C>T	17.37:g.7812062C>T	ENSP00000332628:p.Ala1770Val					CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V|CHD3_ENST00000330494.7_Missense_Mutation_p.A1770V	p.A1829V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			36	5487	+		Prostate(122;0.202)	1770			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5486C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823177	0.50739	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.90844	-2.74;-2.67;-2.68	4.78	4.78	0.61160	CHD, C-terminal 2 (1);	0.000000	0.44902	D	0.000410	D	0.91570	0.7337	L	0.45581	1.43	0.58432	D	0.999999	B;B;B;P	0.40302	0.316;0.057;0.096;0.712	B;B;B;P	0.54499	0.23;0.113;0.173;0.754	D	0.91066	0.4889	10	0.51188	T	0.08	-15.3285	11.8981	0.52667	0.0:0.9084:0.0:0.0916	.	347;1736;1770;1829	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	V	1829;1736;1770;98;62	ENSP00000369716:A1829V;ENSP00000350907:A1736V;ENSP00000332628:A1770V	ENSP00000332628:A1770V	A	+	2	0	CHD3	7752787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.127000	0.42035	2.480000	0.83734	0.561000	0.74099	GCC		0.463	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	1351	0	0	0	1	0	7	1351					T	7812062	C	T	7812062	3	4	71	1	0	0	0	0	1	0	0	0	3335	739	26	2	5732	2	CHD3	17	7812062	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	234514	7812062	73383148	141	8842											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg					rs557733194	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		7	732						7	732	---	---	---	---	-	8370273	CTC	-	8370271	7	5	71	1	0	1	0	1	0	0	0	0	10286	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-HZ-8637-01A-11D-2396-08	558209	8370271	72824939	142	8843											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	816						7	816	---	---	---	---	-	17394707	CAG	-	17394705	7	5	71	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	9024434	17394705	63800505	143	8844											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	811	0	0	0	1	0	6	811					C	33520392	G	C	33520392	3	2	71	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	16125687	33520392	47674818	144	8845											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		12	620						12	620	---	---	---	---	-	62291440	TCC	-	62291438	7	5	71	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	28771046	62291438	18903772	145	8846											
ABCA10	10349	broad.mit.edu	37	chr17	67144973	67144973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggttcttcattttaagGgtcttcctgtgggagaagtt	13	5	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:67144973G>A	ENST00000269081.4	-	40	5536	c.4627C>T	c.(4627-4629)Cct>Tct	p.P1543S	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1543					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					TCATTTTAAGGGTCTTCCTGT	0.338																																						ENST00000269081.4																			0				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						c.(4627-4629)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 10							82	85	84					17																	67144973		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67144973G>A	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.4627C>T	17.37:g.67144973G>A	ENSP00000269081:p.Pro1543Ser					ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	p.P1543S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			40	5536	-	Breast(10;6.95e-12)		1543					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4627C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225136	0.39300	.	.	ENSG00000154263	ENST00000269081	D	0.88586	-2.4	3.81	0.564	0.17302	.	.	.	.	.	D	0.88295	0.6398	L	0.29908	0.895	0.19775	N	0.999955	D;D	0.76494	0.994;0.999	P;D	0.69142	0.878;0.962	T	0.77186	-0.2680	9	0.87932	D	0	.	5.6355	0.17534	0.3789:0.0:0.6211:0.0	.	535;1543	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	S	1543	ENSP00000269081:P1543S	ENSP00000269081:P1543S	P	-	1	0	ABCA10	64656568	0.128000	0.22383	0.004000	0.12327	0.010000	0.07245	0.205000	0.17356	0.216000	0.20781	-0.267000	0.10333	CCT		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		13	276	0	0	0	1	0	13	276					A	67144973	G	A	67144973	3	1	71	1	0	0	0	0	1	0	0	0	29	1232	43	2	8	2	ABCA10	17	67144973	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4853535	67144973	14050237	146	8847											
TXNDC2	84203	broad.mit.edu	37	chr18	9886941	9886941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccaagtcctcagcaaaAcccatccagcccaagctggg	7	17	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.5_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(463-465)aaA>aaG		thioredoxin domain containing 2 (spermatozoa)							131	137	135					18																	9886941		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886941A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.465A>G	18.37:g.9886941A>G						TXNDC2_ENST00000357775.4_Silent_p.K88K|TXNDC2_ENST00000536353.2_Silent_p.K88K	p.K155K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	664	+			155			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.465A>G	CCDS42414.1																																																																																				0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	1322	0	0	0	1	0	8	1322					G	9886941	A	G	9886941	2	3	71	1	0	0	0	0	0	0	0	1	16851	40	2	4		4	TXNDC2	18	9886941	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		9886941	68190307	147	8848											
AQP4	361	broad.mit.edu	37	chr18	24436320	24436320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccacctccatgtagCttccttttgtttgctgggca	8	13	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:24436320C>T	ENST00000383168.4	-	5	955	c.827G>A	c.(826-828)aGc>aAc	p.S276N	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	276					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CTCCATGTAGCTTCCTTTTGT	0.488																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(826-828)aGc>aAc		aquaporin 4							277	237	251					18																	24436320		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436320C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.827G>A	18.37:g.24436320C>T	ENSP00000372654:p.Ser276Asn					AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4_ENST00000583022.1_5'UTR	p.S276N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	955	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		276					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.827G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806238	0.31961	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85955	-2.05	5.75	3.87	0.44632	.	0.399736	0.30492	N	0.009517	T	0.65037	0.2653	N	0.08118	0	0.23401	N	0.997751	B	0.02656	0.0	B	0.06405	0.002	T	0.44283	-0.9338	10	0.31617	T	0.26	.	3.4375	0.07452	0.0:0.4876:0.278:0.2344	.	276	P55087	AQP4_HUMAN	N	276;256;172	ENSP00000372654:S276N	ENSP00000372654:S276N	S	-	2	0	AQP4	22690318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	2.717000	0.92951	0.650000	0.86243	AGC		0.488	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		22	1405	0	0	0	1	0	22	1405					T	24436320	C	T	24436320	3	4	71	1	0	0	0	0	1	0	0	0	828	797	28	2	148	2	AQP4	18	24436320	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14549379	24436320	53640928	148	8849											
ARRDC5	645432	broad.mit.edu	37	chr19	4891312	4891313	+	Frame_Shift_Ins	INS	-	-	G													gtggtgttgaagcgggtcacINSgggggtgttggcctcctgcc					rs192736838	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:4891312_4891313insG	ENST00000381781.2	-	3	773_774	c.774_775insC	c.(772-777)cccgtgfs	p.V259fs	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	259										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AAGCGGGTCACGGGGGTGTTGG	0.624																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(772-777)cctgacfs		arrestin domain containing 5																																				SO:0001589	frameshift_variant	645432				signal transduction			g.chr19:4891312_4891313insG		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.775dupC	19.37:g.4891317_4891317dupG	ENSP00000371200:p.Val259fs						p.D259fs	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	773_774	-			259						Frame_Shift_Ins	INS	ENST00000381781.2	37	c.774_775insC	CCDS45929.1																																																																																				0.624	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		7	343						7	343	---	---	---	---	G	4891313	-	G	4891312	7	5	71	1	0	1	1	0	0	0	0	0	987	536	19	0	257	0	ARRDC5	19	4891312	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08		4891312	54237671	149	8850											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				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						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	465	0	0	0	1	0	5	465					G	9090831	A	G	9090831	2	3	71	1	0	0	0	0	0	0	0	1	10014	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	4199519	9090831	50038152	150	8851											
TYK2	7297	broad.mit.edu	37	chr19	10476252	10476252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaccagtgcctgtcaCcagcacctcgtgggttgggg	14	13	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:10476252C>G	ENST00000525621.1	-	7	1433	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L	TYK2_ENST00000264818.6_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|TYK2_ENST00000529370.1_Missense_Mutation_p.V318L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	318	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGCCTGTCACCAGCACCTCG	0.677																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(952-954)Gtg>Ctg		tyrosine kinase 2							50	61	57					19																	10476252		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476252C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.952G>C	19.37:g.10476252C>G	ENSP00000431885:p.Val318Leu					TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|TYK2_ENST00000264818.6_Missense_Mutation_p.V318L	p.V318L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1433	-			318			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.952G>C	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086512|4.086512	0.76642|0.76642	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	D;D;D;D|.	0.87650|.	-1.59;-1.56;-1.56;-2.28|.	5.18|5.18	5.18|5.18	0.71444|0.71444	FERM domain (1);|.	0.130327|.	0.32218|.	N|.	0.006403|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81682|0.81682	2.555|2.555	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.67145|.	0.994;0.996|.	P;P|.	0.60286|.	0.804;0.872|.	T|T	0.78966|0.78966	-0.1995|-0.1995	10|5	0.87932|.	D|.	0|.	-30.7247|-30.7247	16.2126|16.2126	0.82170|0.82170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	318;318|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	L|C	133;318;318;65;318|96	ENSP00000433203:V133L;ENSP00000431885:V318L;ENSP00000264818:V318L;ENSP00000432728:V318L|.	ENSP00000264818:V318L|.	V|W	-|-	1|3	0|0	TYK2|TYK2	10337252|10337252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.489000|0.489000	0.33432|0.33432	4.262000|4.262000	0.58847|0.58847	2.422000|2.422000	0.82143|0.82143	0.561000|0.561000	0.74099|0.74099	GTG|TGG		0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			7	494	0	0	0	1	0	7	494					G	10476252	C	G	10476252	3	3	71	1	0	0	0	0	1	0	0	0	16864	507	18	5	2687	5	TYK2	19	10476252	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1385421	10476252	48652731	151	8852											
RGL3	57139	broad.mit.edu	37	chr19	11526663	11526663	+	Frame_Shift_Del	DEL	A	A	-													gctctcgctcagcctcctccAaaaaatcttccagaagcttc					rs151155820	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:11526663delA	ENST00000380456.3	-	5	650	c.587delT	c.(586-588)ttgfs	p.L196fs	RGL3_ENST00000393423.3_Frame_Shift_Del_p.L196fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	196	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGCCTCCTCCAAAAAATCTTC	0.582																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(586-588)tgfs		ral guanine nucleotide dissociation stimulator-like 3							130	145	140					19																	11526663		2203	4300	6503	SO:0001589	frameshift_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526663delA	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.587delT	19.37:g.11526663delA	ENSP00000369823:p.Leu196fs					RGL3_ENST00000393423.3_Frame_Shift_Del_p.L196fs	p.L196fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			5	650	-			196			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Frame_Shift_Del	DEL	ENST00000380456.3	37	c.587delT	CCDS32910.1																																																																																				0.582	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		8	2015						8	2015	---	---	---	---	-	11526663	A	-	11526663	7	5	71	1	0	1	0	1	0	0	0	0	13328	131	5	0	1623	0	RGL3	19	11526663	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	1050411	11526663	47602320	152	8853											
CYP4F3	4051	broad.mit.edu	37	chr19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-													cattatctgcctcatcagtgTttttggaacccatcacaacc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:15769322delT	ENST00000221307.8	+	11	1318	c.1271delT	c.(1270-1272)gttfs	p.V424fs	CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1270-1272)gtfs		cytochrome P450, family 4, subfamily F, polypeptide 3							139	148	145					19																	15769322		2203	4300	6503	SO:0001589	frameshift_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769322delT	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1271delT	19.37:g.15769322delT	ENSP00000221307:p.Val424fs					CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs	p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			11	1319	+			424					B7Z8Z3|O60634|Q5U740	Frame_Shift_Del	DEL	ENST00000221307.8	37	c.1271delT	CCDS12332.1																																																																																				0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		8	1938						8	1938	---	---	---	---	-	15769322	T	-	15769322	7	5	71	1	0	1	0	1	0	0	0	0	4201	1725	60	0	1309	0	CYP4F3	19	15769322	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	4242659	15769322	43359661	153	8854											
LTBP4	8425	broad.mit.edu	37	chr19	41120241	41120241	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggacgaatgtcgcgagCgaggcccagccctgtgcggg	17	12	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41120241C>T	ENST00000308370.7	+	22	2902	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	968	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGCGAGCGAGGCCCAGC	0.662																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2902-2904)Cga>Tga		latent transforming growth factor beta binding protein 4							37	40	39					19																	41120241		1988	4156	6144	SO:0001587	stop_gained	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120241C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2902C>T	19.37:g.41120241C>T	ENSP00000311905:p.Arg968*					LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000602240.1_3'UTR	p.R968*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2902	+			968			Cys-rich.		O00508|O75412|O75413	Nonsense_Mutation	SNP	ENST00000308370.7	37	c.2902C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.375412	0.98784	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	4.42	3.32	0.38043	.	0.436821	0.16974	N	0.191978	.	.	.	.	.	.	0.25981	N	0.982375	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.7137	0.05181	0.1743:0.5273:0.1922:0.1063	.	.	.	.	X	931;421;968;901;66	.	ENSP00000204005:R931X	R	+	1	2	LTBP4	45812081	0.474000	0.25886	0.998000	0.56505	0.950000	0.60333	0.304000	0.19228	2.280000	0.76307	0.455000	0.32223	CGA		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	339	0	0	0	1	0	6	339					T	41120241	C	T	41120241	4	4	71	1	0	0	0	0	0	1	0	0	9114	760	27	1	3281	1	LTBP4	19	41120241	Nonsense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	25350919	41120241	18008742	154	8855											
ATP5SL	55101	broad.mit.edu	37	chr19	41942324	41942324	+	Frame_Shift_Del	DEL	A	A	-													cgcctccctgcttcaggatgAaaaaggcacctgcgccgtat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41942324delA	ENST00000221943.9	-	3	274	c.269delT	c.(268-270)ttcfs	p.F90fs	ATP5SL_ENST00000589970.1_Frame_Shift_Del_p.F90fs|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000301183.11_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000595425.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	90						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTTCAGGATGAAAAAGGCACC	0.552																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(268-270)tcfs		ATP5S-like							154	128	137					19																	41942324		2203	4300	6503	SO:0001589	frameshift_variant	55101							g.chr19:41942324delA	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.269delT	19.37:g.41942324delA	ENSP00000221943:p.Phe90fs					ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000301183.11_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000589970.1_Frame_Shift_Del_p.F90fs|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000438807.3_Intron	p.F90fs	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			3	274	-			90					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Frame_Shift_Del	DEL	ENST00000221943.9	37	c.269delT	CCDS33032.1																																																																																				0.552	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		10	1158						10	1158	---	---	---	---	-	41942324	A	-	41942324	7	5	71	1	0	1	0	1	0	0	0	0	1165	246	9	0	520	0	ATP5SL	19	41942324	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	822083	41942324	17186659	155	8856											
ZNF576	79177	broad.mit.edu	37	chr19	44102990	44102990	+	Frame_Shift_Del	DEL	G	G	-													ccacattcctcaggccacctGggggccccgaagtgcacccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44102990delG	ENST00000336564.4	+	3	247	c.93delG	c.(91-93)ctgfs	p.L31fs	ZNF576_ENST00000528387.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000525771.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.L31fs|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	31					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)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CAGGCCACCTGGGGGCCCCGA	0.592																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(91-93)ctfs		zinc finger protein 576							46	56	53					19																	44102990		2203	4300	6503	SO:0001589	frameshift_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44102990delG	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.93delG	19.37:g.44102990delG	ENSP00000337852:p.Leu31fs					ZNF576_ENST00000525771.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000528387.1_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.L31fs	p.L31fs	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	247	+		Prostate(69;0.0199)	31					Q9BU03	Frame_Shift_Del	DEL	ENST00000336564.4	37	c.93delG	CCDS12625.1																																																																																				0.592	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		7	880						7	880	---	---	---	---	-	44102990	G	-	44102990	7	5	71	1	0	1	0	1	0	0	0	0	18061	1335	47	0	99	0	ZNF576	19	44102990	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	2160666	44102990	15025993	156	8857											
ZNF576	79177	broad.mit.edu	37	chr19	44103397	44103397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactacattcggcatgcccGgggggagctctgagtgcagc	14	12	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44103397G>A	ENST00000336564.4	+	3	654	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	167					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)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CGGCATGCCCGGGGGGAGCTC	0.622																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(499-501)cGg>cAg		zinc finger protein 576							29	26	27					19																	44103397		2203	4299	6502	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103397G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.500G>A	19.37:g.44103397G>A	ENSP00000337852:p.Arg167Gln					ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron	p.R167Q	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	654	+		Prostate(69;0.0199)	167					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.500G>A	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013050	0.75161	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99;4.99	4.04	3.01	0.34805	Zinc finger, C2H2 (1);	0.190264	0.34580	N	0.003841	T	0.01189	0.0039	L	0.41236	1.265	0.80722	D	1	P	0.47106	0.89	B	0.31547	0.132	T	0.67738	-0.5593	10	0.66056	D	0.02	-20.071	7.5009	0.27518	0.1158:0.0:0.8842:0.0	.	167	Q9H609	ZN576_HUMAN	Q	167	ENSP00000375827:R167Q;ENSP00000436182:R167Q;ENSP00000435899:R167Q;ENSP00000435934:R167Q;ENSP00000435463:R167Q;ENSP00000337852:R167Q	ENSP00000337852:R167Q	R	+	2	0	ZNF576	48795237	0.064000	0.20934	0.993000	0.49108	0.676000	0.39594	1.784000	0.38674	1.306000	0.44926	0.655000	0.94253	CGG		0.622	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		13	252	0	0	0	1	0	13	252					A	44103397	G	A	44103397	3	1	71	1	0	0	0	0	1	0	0	0	18061	1116	39	1	506	1	ZNF576	19	44103397	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	407	44103397	15025586	157	8858											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.66	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		9	889						9	889	---	---	---	---	-	44174237	AGC	-	44174235	7	5	71	1	0	1	0	1	0	0	0	0	12065	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	70838	44174235	14954748	158	8859											
TMEM143	55260	broad.mit.edu	37	chr19	48866688	48866688	+	Frame_Shift_Del	DEL	G	G	-													tgccagcgatgagagggcccGggggggcccgaggagcgcgg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:48866688delG	ENST00000293261.3	-	2	440	c.124delC	c.(124-126)cggfs	p.R42fs	SYNGR4_ENST00000344846.2_5'Flank|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.R42fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	42					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGAGGGCCCGGGGGGGCCCG	0.682																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(124-126)ggfs		transmembrane protein 143							24	31	29					19																	48866688		2202	4296	6498	SO:0001589	frameshift_variant	55260					integral to membrane|mitochondrion		g.chr19:48866688delG	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.124delC	19.37:g.48866688delG	ENSP00000293261:p.Arg42fs					TMEM143_ENST00000436660.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000541566.1_Intron	p.R42fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	440	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	42					A8K656|Q6UXY4|Q9NV49	Frame_Shift_Del	DEL	ENST00000293261.3	37	c.124delC	CCDS12716.1																																																																																				0.682	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		10	541						10	541	---	---	---	---	-	48866688	G	-	48866688	7	5	71	1	0	1	0	1	0	0	0	0	16109	1115	39	0	1283	0	TMEM143	19	48866688	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	4692453	48866688	10262295	159	8860											
TRPM4	54795	broad.mit.edu	37	chr19	49714750	49714750	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcttttctctcttcccccaGactgagccctgctggcggac	8	17	3	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49714750G>C	ENST00000252826.5	+	25	3766		c.e25-1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTTCCCCCAGACTGAGCCCT	0.567																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e25-1		transient receptor potential cation channel, subfamily M, member 4							116	127	123					19																	49714750		2203	4300	6503	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714750G>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3641-1G>C	19.37:g.49714750G>C						TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site		NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	25	3766	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)						A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	SNP	ENST00000252826.5	37		CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130328	0.37630	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1224	0.65198	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM4	54406562	1.000000	0.71417	0.993000	0.49108	0.377000	0.30045	2.826000	0.48104	2.494000	0.84150	0.655000	0.94253	.		0.567	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron	9	1132	0	0	0	1	0	9	1132					C	49714750	G	C	49714750	5	2	71	1	0	0	0	0	0	0	1	0	16641	956	33	5	3738	5	TRPM4	19	49714750	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	848062	49714750	9414233	160	8861											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629104	51629104	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggggccagcgtgaccacGaacaagaccgtccatctcaa	10	15	1	2	rs368922715		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:51629104G>A	ENST00000250360.3	+	2	739	c.672G>A	c.(670-672)acG>acA	p.T224T	SIGLEC9_ENST00000440804.3_Silent_p.T224T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	224	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTGACCACGAACAAGACCG	0.662													.|||	1	0.000199681	0.0	0.0	5008	,	,		17718	0.0		0.0	False		,,,				2504	0.001					ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(670-672)acG>acA		sialic acid binding Ig-like lectin 9		G	,	1,4405		0,1,2202	86	82	84		672,672	-5.8	0	19		84	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC9	NM_001198558.1,NM_014441.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	224/480,224/464	51629104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629104G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.672G>A	19.37:g.51629104G>A						SIGLEC9_ENST00000250360.3_Silent_p.T224T	p.T224T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	739	+		all_neural(266;0.0529)	224			Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.672G>A	CCDS12825.1																																																																																				0.662	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		6	679	0	0	0	1	0	6	679					A	51629104	G	A	51629104	2	1	71	1	0	0	0	0	0	0	0	1	14365	1045	37	1		1	SIGLEC9	19	51629104	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1914354	51629104	7499879	161	8862											
NLRP12	91662	broad.mit.edu	37	chr19	54314419	54314419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatggggtttgagtgcTccttcaccagcaggagccgg	14	12	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:54314419T>C	ENST00000324134.6	-	3	662	c.494A>G	c.(493-495)gAg>gGg	p.E165G	NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	165					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTGAGTGCTCCTTCACCAG	0.612																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(493-495)gAg>gGg		NLR family, pyrin domain containing 12							77	72	74					19																	54314419		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314419T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.494A>G	19.37:g.54314419T>C	ENSP00000319377:p.Glu165Gly					NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G	p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	662	-	Ovarian(34;0.19)		165					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.494A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998559	0.54147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	4.25	3.21	0.36854	.	0.156011	0.29707	N	0.011410	D	0.90745	0.7095	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.66716	0.922;0.946;0.922;0.946	D	0.89923	0.4060	10	0.72032	D	0.01	.	5.111	0.14809	0.0:0.221:0.0:0.7789	.	165;165;165;165	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	165	ENSP00000319377:E165G;ENSP00000438030:E165G;ENSP00000340473:E165G;ENSP00000346231:E165G;ENSP00000375655:E165G;ENSP00000375653:E165G;ENSP00000375652:E165G	ENSP00000319377:E165G	E	-	2	0	NLRP12	59006231	0.002000	0.14202	0.979000	0.43373	0.937000	0.57800	1.332000	0.33805	1.716000	0.51395	0.254000	0.18369	GAG		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	606	0	0	0	1	0	5	606					C	54314419	T	C	54314419	3	2	71	1	0	0	0	0	1	0	0	0	10516	1551	54	4	2819	4	NLRP12	19	54314419	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2685315	54314419	4814564	162	8863											
NLRP7	199713	broad.mit.edu	37	chr19	55435113	55435113	+	Frame_Shift_Del	DEL	A	A	-													gcgatcccaggctgctcagcAaaaaaagtcacagcacggag					rs373484034		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55435113delA	ENST00000590030.1	-	9	2978	c.2938delT	c.(2938-2940)tgcfs	p.C980fs	NLRP7_ENST00000592784.1_Frame_Shift_Del_p.C1037fs|NLRP7_ENST00000588756.1_Frame_Shift_Del_p.C1037fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.C1065fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.C1009fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	980							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTGCTCAGCAAAAAAAGTCA	0.478																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(3109-3111)gcfs		NLR family, pyrin domain containing 7							107	107	107					19																	55435113		2203	4300	6503	SO:0001589	frameshift_variant	199713						ATP binding	g.chr19:55435113delA	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2938delT	19.37:g.55435113delA	ENSP00000465520:p.Cys980fs					NLRP7_ENST00000340844.2_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.C1065fs|NLRP7_ENST00000590030.1_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.C1037fs	p.C1037fs			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	13	3595	-			0					E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Del	DEL	ENST00000590030.1	37	c.3109delT	CCDS33109.1																																																																																				0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		7	768						7	768	---	---	---	---	-	55435113	A	-	55435113	7	5	71	1	0	1	0	1	0	0	0	0	10524	130	5	0	8	0	NLRP7	19	55435113	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	1120694	55435113	3693870	163	8864											
NLRP7	199713	broad.mit.edu	37	chr19	55450705	55450705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgtccccgatgtcccaGgcgtggccgtccctgtcctc	11	17	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55450705G>A	ENST00000590030.1	-	3	1522	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000446217.1_Silent_p.A522A|NLRP7_ENST00000328092.5_Silent_p.A494A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	494							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGATGTCCCAGGCGTGGCCGT	0.567																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1564-1566)gcC>gcT		NLR family, pyrin domain containing 7							67	65	66					19																	55450705		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450705G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1482C>T	19.37:g.55450705G>A						NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000590030.1_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A	p.A522A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1968	-			494					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1566C>T	CCDS33109.1																																																																																				0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		14	480	0	0	0	1	0	14	480					A	55450705	G	A	55450705	2	1	71	1	0	0	0	0	0	0	0	1	10524	987	35	2		2	NLRP7	19	55450705	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	15592	55450705	3678278	164	8865											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607462	55607462	+	Frame_Shift_Del	DEL	C	C	-													tcctcgtcctggatggggggCcccccagccccaccaggccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55607462delC	ENST00000263433.3	-	8	1125	c.1110delG	c.(1108-1110)gggfs	p.G370fs	PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGATGGGGGGCCCCCCAGCCC	0.647																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1108-1110)ggfs		protein phosphatase 1, regulatory subunit 12C							46	58	54					19																	55607462		2203	4300	6503	SO:0001589	frameshift_variant	54776					cytoplasm		g.chr19:55607462delC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1110delG	19.37:g.55607462delC	ENSP00000263433:p.Gly370fs					PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs	p.G370fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1125	-			370						Frame_Shift_Del	DEL	ENST00000263433.3	37	c.1110delG	CCDS12916.1																																																																																				0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		8	791						8	791	---	---	---	---	-	55607462	C	-	55607462	7	5	71	1	0	1	0	1	0	0	0	0	12403	726	26	0	1298	0	PPP1R12C	19	55607462	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	156757	55607462	3521521	165	8866											
ZNF749	388567	broad.mit.edu	37	chr19	57956396	57956396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagatatcgctgtacacTgagtagacatcagaaagttc	8	8	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:57956396T>C	ENST00000334181.4	+	3	2130	c.1880T>C	c.(1879-1881)cTg>cCg	p.L627P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGCTGTACACTGAGTAGACAT	0.363																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1879-1881)cTg>cCg		zinc finger protein 749							61	65	64					19																	57956396		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956396T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1880T>C	19.37:g.57956396T>C	ENSP00000333980:p.Leu627Pro					AC004076.9_ENST00000596831.1_Intron	p.L627P	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2130	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	627						Missense_Mutation	SNP	ENST00000334181.4	37	c.1880T>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521528	0.44866	.	.	ENSG00000186230	ENST00000334181	T	0.53857	0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73009	0.3532	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60042	-0.7340	9	0.87932	D	0	.	9.3548	0.38159	0.0:0.0:0.0:1.0	.	627	O43361	ZN749_HUMAN	P	627	ENSP00000333980:L627P	ENSP00000333980:L627P	L	+	2	0	ZNF749	62648208	0.071000	0.21146	0.001000	0.08648	0.364000	0.29643	2.842000	0.48230	1.069000	0.40788	0.260000	0.18958	CTG		0.363	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		14	571	0	0	0	1	0	14	571					C	57956396	T	C	57956396	3	2	71	1	0	0	0	0	1	0	0	0	18184	1580	55	4	1890	4	ZNF749	19	57956396	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2348934	57956396	1172587	166	8867											
ANKRD5	63926	broad.mit.edu	37	chr20	10030553	10030553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtacgcgtttccacgcCggcaggatggtgggccaccg	15	13	0	1	rs114206956	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:10030553C>T	ENST00000378380.3	+	6	1665	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R446W|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	446							calcium ion binding (GO:0005509)										GTTTCCACGCCGGCAGGATGG	0.458													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.0					ENST00000378380.3																			0											c.(1336-1338)Cgg>Tgg		ankyrin repeat and EF-hand domain containing 1		C	TRP/ARG,TRP/ARG	14,4392	22.3+/-47.3	0,14,2189	86	81	83		1336,1336	3.9	0	20	dbSNP_132	83	0,8600		0,0,4300	yes	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	101,101	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	benign,benign	446/777,446/777	10030553	14,12992	2203	4300	6503	SO:0001583	missense	63926							g.chr20:10030553C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1336C>T	20.37:g.10030553C>T	ENSP00000367631:p.Arg446Trp					ANKEF1_ENST00000378392.1_Missense_Mutation_p.R446W|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	p.R446W	NM_198798.1	NP_942093.1					6	1665	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1336C>T	CCDS13108.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.59	1.393374	0.25205	0.003177	0.0	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70749	-0.51;-0.51	5.87	3.88	0.44766	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.77103	2.36	0.54753	D	0.999982	D	0.89917	1.0	D	0.67548	0.952	D	0.84772	0.0768	10	0.62326	D	0.03	4.5514	14.9915	0.71393	0.3887:0.6113:0.0:0.0	.	446	Q9NU02	ANKR5_HUMAN	W	446	ENSP00000367644:R446W;ENSP00000367631:R446W	ENSP00000367631:R446W	R	+	1	2	ANKRD5	9978553	0.288000	0.24324	0.014000	0.15608	0.232000	0.25224	0.881000	0.28173	0.886000	0.36113	0.655000	0.94253	CGG		0.458	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		67	513	0	0	0	1	0	67	513					T	10030553	C	T	10030553	3	4	71	1	0	0	0	0	1	0	0	0	676	643	23	1	1354	1	ANKRD5	20	10030553	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		10030553	52994967	167	8868											
NDRG3	57446	broad.mit.edu	37	chr20	35294743	35294743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttggttgatgtcttggGcaatatgcattctgtaggtt	12	5	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:35294743G>A	ENST00000349004.1	-	10	722	c.641C>T	c.(640-642)gCc>gTc	p.A214V	NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|Y_RNA_ENST00000365385.1_RNA|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V|NDRG3_ENST00000373803.2_Missense_Mutation_p.A214V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	214					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GATGTCTTGGGCAATATGCAT	0.398																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(640-642)gCc>gTc		NDRG family member 3							211	186	195					20																	35294743		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35294743G>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.641C>T	20.37:g.35294743G>A	ENSP00000345292:p.Ala214Val					NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V|NDRG3_ENST00000349004.1_Missense_Mutation_p.A214V|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V	p.A214V			Q9UGV2	NDRG3_HUMAN			10	697	-		Myeloproliferative disorder(115;0.00878)	214					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.641C>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782077	0.31502	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.03	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.17723	0.515	0.58432	D	0.999999	B;B;D	0.69078	0.081;0.081;0.997	B;B;D	0.68621	0.061;0.051;0.959	T	0.03597	-1.1021	10	0.22706	T	0.39	.	11.5003	0.50433	0.0873:0.0:0.9127:0.0	.	119;202;214	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	V	214;214;202;119;110	ENSP00000345292:A214V;ENSP00000362909:A214V;ENSP00000352703:A202V;ENSP00000362878:A119V;ENSP00000442813:A110V	ENSP00000345292:A214V	A	-	2	0	NDRG3	34728157	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	8.737000	0.91562	1.493000	0.48517	0.655000	0.94253	GCC		0.398	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			5	412	0	0	0	1	0	5	412					A	35294743	G	A	35294743	3	1	71	1	0	0	0	0	1	0	0	0	10295	1203	42	2	514	2	NDRG3	20	35294743	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	25264190	35294743	27730777	168	8869											
SLC12A5	57468	broad.mit.edu	37	chr20	44685057	44685057	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccccagcagctccccgtcCccaggggaggagcctgaggg	15	16	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000454036.2	+	23	3082	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	SLC12A5_ENST00000243964.3_Silent_p.S988S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1011					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTCCCCAGGGGAGG	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3031-3033)tcC>tcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						34	33	34					20																	44685057		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685057C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3033C>A	20.37:g.44685057C>A						SLC12A5_ENST00000243964.3_Silent_p.S988S	p.S1011S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			23	3109	+		Myeloproliferative disorder(115;0.0122)	1011					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3033C>A	CCDS46610.1																																																																																				0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	208	1	0	1	1	1	5	208					A	44685057	C	A	44685057	2	1	71	1	0	0	0	0	0	0	0	1	14436	610	22	3		3	SLC12A5	20	44685057	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	9390314	44685057	18340463	169	8870											
ZNF831	128611	broad.mit.edu	37	chr20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctacaagcacaggcggaCgcagacgcacctcaacaact	8	15	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:57766652C>T	ENST00000371030.2	+	1	578	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGGCGGACGCAGACGCAC	0.662																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(577-579)aCg>aTg		zinc finger protein 831							48	56	54					20																	57766652		2055	4202	6257	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766652C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.578C>T	20.37:g.57766652C>T	ENSP00000360069:p.Thr193Met						p.T193M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	578	+	all_lung(29;0.0085)		193					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.578C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690629	0.48097	.	.	ENSG00000124203	ENST00000371030	T	0.31510	1.49	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	L	0.27053	0.805	0.41770	D	0.989768	D	0.89917	1.0	D	0.85130	0.997	T	0.45614	-0.9249	9	0.87932	D	0	-12.0165	14.5325	0.67936	0.1475:0.8525:0.0:0.0	.	193	Q5JPB2	ZN831_HUMAN	M	193	ENSP00000360069:T193M	ENSP00000360069:T193M	T	+	2	0	ZNF831	57200047	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.755000	0.85180	1.259000	0.44117	0.561000	0.74099	ACG		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	758	0	0	0	1	0	6	758					T	57766652	C	T	57766652	3	4	71	1	0	0	0	0	1	0	0	0	18238	536	19	1	580	1	ZNF831	20	57766652	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	13081595	57766652	5258868	170	8871											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		8	218						8	218	---	---	---	---	-	27394184	GTG	-	27394182	7	5	71	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-HZ-8637-01A-11D-2396-08		27394182	20735713	171	8872											
TTC3	7267	broad.mit.edu	37	chr21	38538054	38538054	+	Frame_Shift_Del	DEL	A	A	-													aggttgcatcacggctcaagAaaaaaaggaagaagaaaaac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:38538054delA	ENST00000399017.2	+	33	6285	c.3538delA	c.(3538-3540)aaafs	p.K1181fs	TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1181	Arg/Lys-rich (basic).				negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACGGCTCAAGAAAAAAAGGAA	0.383																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3538-3540)aafs		tetratricopeptide repeat domain 3							119	131	127					21																	38538054		2198	4299	6497	SO:0001589	frameshift_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538054delA	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3538delA	21.37:g.38538054delA	ENSP00000381981:p.Lys1181fs					TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000479930.1_3'UTR	p.K1181fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6285	+		Myeloproliferative disorder(46;0.0412)	1181			Arg/Lys-rich (basic).		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	ENST00000399017.2	37	c.3538delA	CCDS13651.1																																																																																				0.383	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	1247						7	1247	---	---	---	---	-	38538054	A	-	38538054	7	5	71	1	0	1	0	1	0	0	0	0	16751	247	9	0	3664	0	TTC3	21	38538054	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	11143872	38538054	9591841	172	8873											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		24	232	0	0	0	1	0	24	232					A	44524456	G	A	44524456	3	1	71	1	0	0	0	0	1	0	0	0	16875	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5986402	44524456	3605439	173	8874											
CABIN1	23523	broad.mit.edu	37	chr22	24567686	24567686	+	Frame_Shift_Del	DEL	G	G	-													tgtttgtcctcacaggcctcGggggacacccccaccactcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:24567686delG	ENST00000398319.2	+	34	6148	c.5763delG	c.(5761-5763)tcgfs	p.S1921fs	CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S346fs|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S1921fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S1842fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1921					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGGCCTCGGGGGACACCC	0.627																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5761-5763)tcfs		calcineurin binding protein 1							101	115	110					22																	24567686		2203	4300	6503	SO:0001589	frameshift_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567686delG	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5763delG	22.37:g.24567686delG	ENSP00000381364:p.Ser1921fs					CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S346fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S1842fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S1921fs|CABIN1_ENST00000485008.1_3'UTR	p.S1921fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			34	6148	+			1921					G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	ENST00000398319.2	37	c.5763delG	CCDS13823.1																																																																																				0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		7	1366						7	1366	---	---	---	---	-	24567686	G	-	24567686	7	5	71	1	0	1	0	1	0	0	0	0	2535	1103	39	0	5893	0	CABIN1	22	24567686	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08		24567686	26736880	174	8875											
TCF20	6942	broad.mit.edu	37	chr22	42610948	42610948	+	Frame_Shift_Del	DEL	G	G	-													attgccaaagctgctcccctGggggggtccatagctctgca					rs138734341		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:42610948delG	ENST00000359486.3	-	1	500	c.364delC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCCCTGGGGGGGTCCA	0.567																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)agfs		transcription factor 20 (AR1)							92	97	95					22																	42610948		2203	4300	6503	SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610948delG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.364delC	22.37:g.42610948delG	ENSP00000352463:p.Gln122fs					TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	500	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	ENST00000359486.3	37	c.364delC	CCDS14033.1																																																																																				0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	1209						8	1209	---	---	---	---	-	42610948	G	-	42610948	7	5	71	1	0	1	0	1	0	0	0	0	15742	1357	47	0	5556	0	TCF20	22	42610948	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	18043262	42610948	8693618	175	8876											
ZFX	7543	broad.mit.edu	37	chrX	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-													acgtggctgcccacaagggcAaaaaaatgcaccagtgtaga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aaafs	p.K688fs	ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CCACAAGGGCAAAAAAATGCA	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2059-2061)aafs		zinc finger protein, X-linked							121	110	114					X																	24229134		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229134delA		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2059delA	X.37:g.24229134delA	ENSP00000368475:p.Lys688fs					ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs	p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2486	+			688					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.2059delA	CCDS14211.1																																																																																				0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	780						7	780	---	---	---	---	-	24229134	A	-	24229134	7	5	71	1	0	1	0	1	0	0	0	0	17714	131	5	0	2144	0	ZFX	23	24229134	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08		24229134	131041426	176	8877											
DMD	1756	broad.mit.edu	37	chrX	32563424	32563424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtctgtgttagtgatgGctgagtggtggtgacagcct	16	5	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:32563424G>A	ENST00000357033.4	-	17	2226	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	674					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTAGTGATGGCTGAGTGGTG	0.463																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2020-2022)Cca>Tca		dystrophin							194	141	159					X																	32563424		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32563424G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2020C>T	X.37:g.32563424G>A	ENSP00000354923:p.Pro674Ser					DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	p.P674S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			17	2226	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	674					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2020C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212886	0.22289	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.71461	0.2;0.2;-0.57	5.64	4.69	0.59074	.	0.253065	0.20010	U	0.101151	T	0.56790	0.2009	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.20887	0.049;0.003;0.007;0.002	B;B;B;B	0.19666	0.026;0.015;0.003;0.007	T	0.51284	-0.8725	10	0.18710	T	0.47	.	12.1345	0.53964	0.0:0.0:0.6831:0.3169	.	666;666;674;670	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	S	666;670;674;674;551;666	ENSP00000367948:P670S;ENSP00000354923:P674S;ENSP00000288447:P666S	ENSP00000288447:P666S	P	-	1	0	DMD	32473345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.541000	0.45735	2.356000	0.79943	0.506000	0.49869	CCA		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	374	0	0	0	1	0	12	374					A	32563424	G	A	32563424	3	1	71	1	0	0	0	0	1	0	0	0	4596	1203	42	2	9532	2	DMD	23	32563424	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8334290	32563424	122707136	177	8878											
GRIPAP1	56850	broad.mit.edu	37	chrX	48841735	48841737	+	In_Frame_Del	DEL	CTG	CTG	-													ataaggtcctcgtactcagcCtgctgctgctgcaactcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:48841735_48841737delCTG	ENST00000376441.1	-	14	1154_1156	c.1120_1122delCAG	c.(1120-1122)cagdel	p.Q374del	GRIPAP1_ENST00000376423.4_In_Frame_Del_p.Q321del|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_In_Frame_Del_p.Q343del|GRIPAP1_ENST00000376444.3_In_Frame_Del_p.Q329del	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	374						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGTACTCAGCCTGCTGCTGCTGC	0.517																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(961-963)del		GRIP1 associated protein 1																																				SO:0001651	inframe_deletion	56850					early endosome		g.chrX:48841735_48841737delCTG	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1120_1122delCAG	X.37:g.48841744_48841746delCTG	ENSP00000365624:p.Gln374del					GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_In_Frame_Del_p.Q343del|GRIPAP1_ENST00000376444.3_In_Frame_Del_p.Q329del|GRIPAP1_ENST00000376441.1_In_Frame_Del_p.Q374del	p.Q321del	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			13	993_995	-			374					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	In_Frame_Del	DEL	ENST00000376441.1	37	c.961_963delCAG	CCDS35248.1																																																																																				0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		7	336						7	336	---	---	---	---	-	48841737	CTG	-	48841735	7	5	71	1	0	1	0	1	0	0	0	0	6819	680	24	0	1509	0	GRIPAP1	23	48841735	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08	16278311	48841735	106428825	178	8879											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		20	72						20	72	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	71	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	366560	49208295	106062265	179	8880											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	408						12	408	---	---	---	---	-	70360682	GCA	-	70360680	7	5	71	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-HZ-8637-01A-11D-2396-08	21152385	70360680	84909880	180	8881											
TBX22	50945	broad.mit.edu	37	chrX	79279655	79279655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgccggtggattccaaAcgctataggtaatgggcccc	14	10	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:79279655A>G	ENST00000373294.5	+	3	478	c.450A>G	c.(448-450)aaA>aaG	p.K150K	TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000442340.1_Silent_p.K30K|TBX22_ENST00000373291.1_Silent_p.K30K	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	150					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGATTCCAAACGCTATAGGT	0.527																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(88-90)aaA>aaG		T-box 22							152	118	129					X																	79279655		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279655A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.450A>G	X.37:g.79279655A>G						TBX22_ENST00000373291.1_Silent_p.K30K|TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000373294.5_Silent_p.K150K	p.K30K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			4	580	+			150					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.90A>G	CCDS14445.1																																																																																				0.527	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		101	438	0	0	0	1	0	101	438					G	79279655	A	G	79279655	2	3	71	1	0	0	0	0	0	0	0	1	15710	40	2	4		4	TBX22	23	79279655	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	8918975	79279655	75990905	181	8882											
SYTL4	94121	broad.mit.edu	37	chrX	99956515	99956515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtatgcggcagtcccGacacaccaggtgattacaac	9	13	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:99956515G>A	ENST00000372989.1	-	5	596	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	SYTL4_ENST00000372981.1_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	89	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGGCAGTCCCGACACACCAGG	0.572																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(265-267)Cgg>Tgg		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107	90	96					X																	99956515		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956515G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.265C>T	X.37:g.99956515G>A	ENSP00000362080:p.Arg89Trp					SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000372989.1_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W	p.R89W			Q96C24	SYTL4_HUMAN			3	451	-			89			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.265C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920656	0.52653	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.25	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.262657	0.37530	N	0.002046	D	0.82356	0.5019	M	0.63843	1.955	0.29637	N	0.845039	D;D	0.76494	0.999;0.986	P;P	0.62382	0.901;0.487	T	0.77707	-0.2487	9	.	.	.	-4.0888	8.1107	0.30914	0.0833:0.0:0.7602:0.1565	.	89;89	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	89	ENSP00000362080:R89W;ENSP00000390252:R89W;ENSP00000403556:R89W;ENSP00000276141:R89W;ENSP00000263033:R89W;ENSP00000362072:R89W	.	R	-	1	2	SYTL4	99843171	0.987000	0.35691	0.961000	0.40146	0.629000	0.37895	3.328000	0.52052	1.119000	0.41883	0.600000	0.82982	CGG		0.572	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		153	820	0	0	0	1	0	153	820					A	99956515	G	A	99956515	3	1	71	1	0	0	0	0	1	0	0	0	15537	1057	37	1	1810	1	SYTL4	23	99956515	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	20676860	99956515	55314045	182	8883											
DRP2	1821	broad.mit.edu	37	chrX	100505940	100505940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcattgaagcatcccagtTcctggagtgggtcaacctgg	12	10	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:100505940T>C	ENST00000395209.3	+	16	2260	c.1733T>C	c.(1732-1734)tTc>tCc	p.F578S	DRP2_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	578					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCATCCCAGTTCCTGGAGTGG	0.542																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1732-1734)tTc>tCc		dystrophin related protein 2							164	134	144					X																	100505940		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100505940T>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1733T>C	X.37:g.100505940T>C	ENSP00000378635:p.Phe578Ser					DRP2_ENST00000402866.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S	p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			16	2260	+			578					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1733T>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885168	0.91814	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.06	6.06	0.98353	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93684	0.7001	10	0.87932	D	0	-16.046	15.4998	0.75687	0.0:0.0:0.0:1.0	.	578	Q13474	DRP2_HUMAN	S	578;578;500;578	ENSP00000385038:F578S;ENSP00000378635:F578S;ENSP00000444752:F500S;ENSP00000441051:F578S	ENSP00000378635:F578S	F	+	2	0	DRP2	100392596	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		33	1198	0	0	0	1	0	33	1198					C	100505940	T	C	100505940	3	2	71	1	0	0	0	0	1	0	0	0	4780	1783	62	4	1787	4	DRP2	23	100505940	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	549425	100505940	54764620	183	8884											
RNF128	79589	broad.mit.edu	37	chrX	105937255	105937256	+	Frame_Shift_Ins	INS	-	-	T													aaccaggagaataggtccagINSttttttttggctccttgtaa							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:105937255_105937256insT	ENST00000324342.3	+	1	188_189	c.23_24insT	c.(22-27)agttttfs	p.SF8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AATAGGTCCAGTTTTTTTTGGC	0.347																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)attfs		ring finger protein 128, E3 ubiquitin protein ligase				5,3716		0,5,0,1587,537						3.2	0			72	9,6473		0,3,6,2354,1762	no	frameshift	RNF128	NM_024539.3		0,8,6,3941,2299	A1A1,A1R,A1,RR,R		0.1388,0.1344,0.1372				14,10189				SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937255_105937256insT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.31dupT	X.37:g.105937263_105937263dupT	ENSP00000316127:p.Ser8fs						p.I8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	188_189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Ins	INS	ENST00000324342.3	37	c.23_24insT	CCDS14520.1																																																																																				0.347	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		8	474						8	474	---	---	---	---	T	105937256	-	T	105937255	7	5	71	1	0	1	1	0	0	0	0	0	13486	1029	36	0	25	0	RNF128	23	105937255	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	5431315	105937255	49333305	184	8885											
IRS4	8471	broad.mit.edu	37	chrX	107979420	107979420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtggagagccacatggctCccggacaagacgacccggtc	13	15	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:107979420C>G	ENST00000372129.2	-	1	231	c.155G>C	c.(154-156)gGa>gCa	p.G52A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	52					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCACATGGCTCCCGGACAAGA	0.672																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(154-156)gGa>gCa		insulin receptor substrate 4							20	23	22					X																	107979420		2174	4212	6386	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979420C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.155G>C	X.37:g.107979420C>G	ENSP00000361202:p.Gly52Ala						p.G52A	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	231	-			52						Missense_Mutation	SNP	ENST00000372129.2	37	c.155G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.450387	0.43531	.	.	ENSG00000133124	ENST00000372129	T	0.57436	0.4	3.0	2.13	0.27403	.	0.434509	0.17021	N	0.190111	T	0.31979	0.0814	N	0.14661	0.345	0.26220	N	0.979178	B	0.18461	0.028	B	0.12156	0.007	T	0.22243	-1.0222	10	0.56958	D	0.05	-3.0499	7.3287	0.26569	0.0:0.8609:0.0:0.1391	.	52	O14654	IRS4_HUMAN	A	52	ENSP00000361202:G52A	ENSP00000361202:G52A	G	-	2	0	IRS4	107866076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.679000	0.31345	0.431000	0.28591	GGA		0.672	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		54	562	0	0	0	1	0	54	562					G	107979420	C	G	107979420	3	3	71	1	0	0	0	0	1	0	0	0	7872	855	30	5	3622	5	IRS4	23	107979420	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	2042165	107979420	47291140	185	8886											
KCNE1L	23630	broad.mit.edu	37	chrX	108868206	108868206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagctcgagcaacaggCggctcagaagggttcgcagc	16	11	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:108868206C>T	ENST00000372101.2	-	1	187	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	15					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GAGCAACAGGCGGCTCAGAAG	0.682																																						ENST00000372101.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(43-45)cGc>cAc		KCNE1-like							11	12	12					X																	108868206		2163	4218	6381	SO:0001583	missense	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108868206C>T	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.44G>A	X.37:g.108868206C>T	ENSP00000361173:p.Arg15His					RP1-136J15.3_ENST00000439581.1_RNA	p.R15H	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN			1	187	-			15						Missense_Mutation	SNP	ENST00000372101.2	37	c.44G>A	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906858	0.52333	.	.	ENSG00000176076	ENST00000372101	T	0.71817	-0.6	4.74	1.66	0.24008	.	0.242758	0.27437	N	0.019376	T	0.41880	0.1178	N	0.08118	0	0.28357	N	0.920618	B	0.13145	0.007	B	0.10450	0.005	T	0.21861	-1.0233	10	0.48119	T	0.1	-25.7468	0.7581	0.01002	0.1549:0.2966:0.2664:0.2821	.	15	Q9UJ90	KCE1L_HUMAN	H	15	ENSP00000361173:R15H	ENSP00000361173:R15H	R	-	2	0	KCNE1L	108754862	0.985000	0.35326	0.988000	0.46212	0.851000	0.48451	0.065000	0.14466	0.476000	0.27440	0.523000	0.50628	CGC		0.682	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		6	146	0	0	0	1	0	6	146					T	108868206	C	T	108868206	3	4	71	1	0	0	0	0	1	0	0	0	8052	768	27	1	388	1	KCNE1L	23	108868206	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	888786	108868206	46402354	186	8887											
CAPN6	827	broad.mit.edu	37	chrX	110494868	110494868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcactgaagacttccacaaGtctctctccaagacgaattt	6	12	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:110494868G>T	ENST00000324068.1	-	6	969	c.802C>A	c.(802-804)Ctt>Att	p.L268I	CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	268	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTTCCACAAGTCTCTCTCCA	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(802-804)Ctt>Att		calpain 6							279	277	278					X																	110494868		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494868G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.802C>A	X.37:g.110494868G>T	ENSP00000317214:p.Leu268Ile					CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	p.L268I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			6	969	-			268			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.802C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074557	0.76415	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90444	-2.67;-2.28	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.072434	0.56097	D	0.000033	D	0.92496	0.7617	L	0.58428	1.81	0.47276	D	0.999375	D	0.60575	0.988	P	0.61722	0.893	D	0.91917	0.5544	10	0.52906	T	0.07	.	9.6606	0.39952	0.0718:0.0:0.7883:0.1398	.	268	Q9Y6Q1	CAN6_HUMAN	I	268;13	ENSP00000317214:L268I;ENSP00000441736:L13I	ENSP00000317214:L268I	L	-	1	0	CAPN6	110381524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.051000	0.49885	1.355000	0.45865	0.600000	0.82982	CTT		0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			29	3209	1	0	0.0135373	1	0.013788	29	3209					T	110494868	G	T	110494868	3	4	71	1	0	0	0	0	1	0	0	0	2637	1029	36	3	1155	3	CAPN6	23	110494868	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1626662	110494868	44775692	187	8888											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		7	431	0	0	0	1	0	7	431					T	112058796	C	T	112058796	2	4	71	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1563928	112058796	43211764	188	8889											
NDUFA1	4694	broad.mit.edu	37	chrX	119005896	119005896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttcgagattctccccGgactctccgtcatgggcgtg	13	12	3	1	rs104894884		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119005896G>A	ENST00000371437.4	+	1	447	c.22G>A	c.(22-24)Gga>Aga	p.G8R	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	8			G -> R (in MT-C1D). {ECO:0000269|PubMed:17262856}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						GATTCTCCCCGGACTCTCCGT	0.582																																						ENST00000371437.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5	GRCh37	CM070206	NDUFA1	M	rs104894884	c.(22-24)Gga>Aga		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NADH(DB00157)						184	149	161					X																	119005896		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119005896G>A		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"Mitochondrial respiratory chain complex / Complex I"	7683	protein-coding gene	gene with protein product	"NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit"	300078	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.22G>A	X.37:g.119005896G>A	ENSP00000360492:p.Gly8Arg						p.G8R	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN			1	447	+			8		G -> R (in MT-C1D).				Missense_Mutation	SNP	ENST00000371437.4	37	c.22G>A	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436087	0.43224	.	.	ENSG00000125356	ENST00000371437	T	0.78481	-1.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.86588	0.1858	9	0.42905	T	0.14	-17.2435	13.6857	0.62515	0.0:0.0:1.0:0.0	.	8	O15239	NDUA1_HUMAN	R	8	ENSP00000360492:G8R	ENSP00000360492:G8R	G	+	1	0	NDUFA1	118889924	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	3.502000	0.53332	2.300000	0.77407	0.600000	0.82982	GGA		0.582	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		34	1455	0	0	0	1	0	34	1455					A	119005896	G	A	119005896	3	1	71	1	0	0	0	0	1	0	0	0	10301	1117	39	1	24	1	NDUFA1	23	119005896	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	6947100	119005896	36264664	189	8890											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		12	581						12	581	---	---	---	---	-	119694119	GAG	-	119694117	7	5	71	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-HZ-8637-01A-11D-2396-08	688221	119694117	35576443	190	8891											
TFDP3	51270	broad.mit.edu	37	chrX	132351106	132351106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcactgaggtcgtcatcGttgttgtcctcctcctcttc	7	14	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	394	Asp/Glu-rich (acidic; NCB domain).				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCGTCATCGTTGTTGTCCT	0.498																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(1180-1182)aaC>aaT		transcription factor Dp family, member 3							95	93	94					X																	132351106		2201	4299	6500	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351106G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1182C>T	X.37:g.132351106G>A							p.N394N	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	1270	-	Acute lymphoblastic leukemia(192;0.000127)		394			Asp/Glu-rich (acidic; NCB domain).		Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.1182C>T	CCDS14636.2																																																																																				0.498	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		184	768	0	0	0	1	0	184	768					A	132351106	G	A	132351106	2	1	71	1	0	0	0	0	0	0	0	1	15851	1136	40	1		1	TFDP3	23	132351106	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	12656989	132351106	22919454	191	8892											
UBE2NL	389898	broad.mit.edu	37	chrX	142967510	142967510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccagccctgcagatccGcacagttctgctatcgatcc	8	17	1	1	rs150007003		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:142967510G>A	ENST00000370494.1	+	1	338	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGATCCGCACAGTTCTG	0.423																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(307-309)cGc>cAc		ubiquitin-conjugating enzyme E2N-like		G	HIS/ARG	1,3834		0,1,1631,571	110	95	100		308	1.2	1	X	dbSNP_134	100	1,6727		0,1,2427,1872	no	missense	UBE2NL	NM_001012989.1	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	possibly-damaging	103/154	142967510	2,10561	2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967510G>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.308G>A	X.37:g.142967510G>A	ENSP00000359525:p.Arg103His						p.R103H	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	338	+	Acute lymphoblastic leukemia(192;6.56e-05)		103					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.308G>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	8.376	0.836434	0.16891	2.61E-4	1.49E-4	ENSG00000102069	ENST00000370494	T	0.38560	1.13	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.50990	0.1648	M	0.92970	3.365	0.58432	D	0.999995	B	0.31009	0.303	B	0.35278	0.199	T	0.57476	-0.7805	10	0.56958	D	0.05	11.1641	7.9726	0.30136	0.0:0.0:1.0:0.0	.	103	Q5JXB2	UE2NL_HUMAN	H	103	ENSP00000359525:R103H	ENSP00000359525:R103H	R	+	2	0	UBE2NL	142795176	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	6.239000	0.72356	0.899000	0.36444	0.181000	0.17075	CGC		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		6	964	0	0	0	1	0	6	964					A	142967510	G	A	142967510	3	1	71	1	0	0	0	0	1	0	0	0	16921	1087	38	1	310	1	UBE2NL	23	142967510	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	10616404	142967510	12303050	192	8893											
MAMLD1	10046	broad.mit.edu	37	chrX	149639651	149639651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcagcagcaAcagcagcagcagcctgacca	11	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77	68	71					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		6	1007	0	0	0	1	0	6	1007					G	149639651	A	G	149639651	2	3	71	1	0	0	0	0	0	0	0	1	9249	40	2	4		4	MAMLD1	23	149639651	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	6672141	149639651	5630909	193	8894											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		24	1742						24	1742	---	---	---	---	-	149937528	GGC	-	149937526	7	5	71	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-HZ-8637-01A-11D-2396-08	297875	149937526	5333034	194	8895											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		13	566	0	0	0	1	0	13	566					A	150156360	G	A	150156360	2	1	71	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	218834	150156360	5114200	195	8896											
GABRE	2564	broad.mit.edu	37	chrX	151138810	151138810	+	Frame_Shift_Del	DEL	G	G	-													attttccagaggctggggctGggggccatagacaacatcac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:151138810delG	ENST00000370328.3	-	2	174	c.121delC	c.(121-123)cagfs	p.Q41fs	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Frame_Shift_Del_p.Q41fs	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	41					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCTGGGGCTGGGGGCCATAG	0.512																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(121-123)agfs		gamma-aminobutyric acid (GABA) A receptor, epsilon							121	117	118					X																	151138810		2203	4300	6503	SO:0001589	frameshift_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138810delG	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.121delC	X.37:g.151138810delG	ENSP00000359353:p.Gln41fs					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Frame_Shift_Del_p.Q41fs	p.Q41fs			P78334	GBRE_HUMAN			2	174	-	Acute lymphoblastic leukemia(192;6.56e-05)		41					E7ET93|O15345|O15346|Q6PCD2|Q99520	Frame_Shift_Del	DEL	ENST00000370328.3	37	c.121delC	CCDS14703.1																																																																																				0.512	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		8	1920						8	1920	---	---	---	---	-	151138810	G	-	151138810	7	5	71	1	0	1	0	1	0	0	0	0	6197	1357	47	0	1431	0	GABRE	23	151138810	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	982450	151138810	4131750	196	8897											
PNMA3	29944	broad.mit.edu	37	chrX	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G													gagatgctacagatgtggcaINSggtgcccgagggggaaaaga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152225996_152225997insG	ENST00000370264.4	+	1	610_611	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.V196fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(583-585)cgtfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225996_152225997insG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.586dupG	X.37:g.152225998_152225998dupG	ENSP00000359286:p.Val196fs					PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs	p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	920_921	+	Acute lymphoblastic leukemia(192;6.56e-05)		195					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.584_585insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		11	1297						11	1297	---	---	---	---	G	152225997	-	G	152225996	7	5	71	1	0	1	1	0	0	0	0	0	12197	188	7	0	586	0	PNMA3	23	152225996	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	1087186	152225996	3044564	197	8898	60	2									
PNMA3	29944	broad.mit.edu	37	chrX	152226003	152226004	+	Frame_Shift_Ins	INS	-	-	G													tacagatgtggcaggtgcccINSgagggggaaaagaggcggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152226003_152226004insG	ENST00000370264.4	+	1	617_618	c.591_592insG	c.(592-594)gagfs	p.E198fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.E198fs|PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.E198fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaaa	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(589-594)ccagggfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226003_152226004insG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.592dupG	X.37:g.152226004_152226004dupG	ENSP00000359286:p.Glu198fs					PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs	p.G198fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	927_928	+	Acute lymphoblastic leukemia(192;6.56e-05)		198					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.591_592insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		9	1169						9	1169	---	---	---	---	G	152226004	-	G	152226003	7	5	71	1	0	1	1	0	0	0	0	0	12197	639	23	0	593	0	PNMA3	23	152226003	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	7	152226003	3044557	198	8899	60	2									
PDZD4	57595	broad.mit.edu	37	chrX	153069953	153069953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctcgttgcggttgaCgtccagggcgctgttgcctc	14	13	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:153069953C>T	ENST00000164640.4	-	8	1356	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCGGTTGACGTCCAGGGCG	0.632																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1165-1167)Gtc>Atc		PDZ domain containing 4							48	40	43					X																	153069953		2203	4300	6503	SO:0001583	missense	57595					cell cortex		g.chrX:153069953C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1165G>A	X.37:g.153069953C>T	ENSP00000164640:p.Val389Ile					PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I|PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I	p.V389I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1356	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		389					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1165G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020509	0.35606	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04706	3.57;3.57;3.77	5.02	5.02	0.67125	.	0.000000	0.34338	U	0.004046	T	0.09291	0.0229	L	0.46157	1.445	0.43857	D	0.996456	D;P;D;D;D	0.60575	0.98;0.956;0.988;0.988;0.98	P;P;B;P;P	0.48488	0.579;0.475;0.38;0.539;0.579	T	0.15636	-1.0430	10	0.39692	T	0.17	-44.1464	16.1719	0.81822	0.0:1.0:0.0:0.0	.	280;395;389;314;293	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	I	389;314;293;280	ENSP00000164640:V389I;ENSP00000377355:V314I;ENSP00000442033:V280I	ENSP00000164640:V389I	V	-	1	0	PDZD4	152723147	0.830000	0.29337	0.989000	0.46669	0.807000	0.45602	2.646000	0.46630	2.069000	0.61940	0.436000	0.28706	GTC		0.632	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		18	346	0	0	0	1	0	18	346					T	153069953	C	T	153069953	3	4	71	1	0	0	0	0	1	0	0	0	11745	536	19	1	1148	1	PDZD4	23	153069953	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	843950	153069953	2200607	199	8900											
IL9R	3581	broad.mit.edu	37	chrX	155239799	155239801	+	In_Frame_Del	DEL	AGC	AGC	-													cagactcagagggcagcaggAgcagcagcagcagcagcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:155239799_155239801delAGC	ENST00000244174.5	+	9	1470_1472	c.1291_1293delAGC	c.(1291-1293)agcdel	p.S438del	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_In_Frame_Del_p.S417del	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGgcagcaggagcagcagcagca	0.621														360	0.071885	0.2579	0.013	5008	,	,		19133	0.001		0.005	False		,,,				2504	0.0041					ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1228-1230)del		interleukin 9 receptor																																				SO:0001651	inframe_deletion	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239799_155239801delAGC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1291_1293delAGC	X.37:g.155239808_155239810delAGC	ENSP00000244174:p.Ser438del					IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_In_Frame_Del_p.S438del|IL9R_ENST00000540897.1_3'UTR	p.S417del			Q01113	IL9R_HUMAN			10	1595_1597	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		438					B9ZVT0|Q14634|Q8WWU1|Q96TF0	In_Frame_Del	DEL	ENST00000244174.5	37	c.1228_1230delAGC	CCDS14771.4																																																																																				0.621	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		8	218						8	218	---	---	---	---	-	155239801	AGC	-	155239799	7	5	71	1	0	1	0	1	0	0	0	0	7738	304	11	0	1325	0	IL9R	23	155239799	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	2169846	155239799	30761	200	8901											
ZBTB17	7709	broad.mit.edu	37	chr1	16269204	16269204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccggttgaagccacgccCacacttatcacacaggtaag	8	14	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:16269204C>A	ENST00000375743.4	-	14	2090	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375733.2_Missense_Mutation_p.G620W	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	620					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCACGCCCACACTTATCA	0.612																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(1858-1860)Ggg>Tgg		zinc finger and BTB domain containing 17							70	56	61					1																	16269204		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269204C>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1858G>T	1.37:g.16269204C>A	ENSP00000364895:p.Gly620Trp					ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G620W	p.G620W			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	14	2096	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	620					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1858G>T	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210920|4.210920	0.79240|0.79240	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	T;T;T|.	0.02525|.	4.26;4.26;4.26|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.997;0.999|.	D|D	0.89151|0.89151	0.3523|0.3523	10|5	0.87932|.	D|.	0|.	.|.	14.9728|14.9728	0.71246|0.71246	0.0:0.8577:0.1423:0.0|0.0:0.8577:0.1423:0.0	.|.	620;538;620|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	W|L	620;620;539;538;176|19	ENSP00000364895:G620W;ENSP00000364885:G620W;ENSP00000438529:G538W|.	ENSP00000364881:G176W|.	G|W	-|-	1|2	0|0	ZBTB17|ZBTB17	16141791|16141791	0.999000|0.999000	0.42202|0.42202	0.890000|0.890000	0.34922|0.34922	0.996000|0.996000	0.88848|0.88848	4.586000|4.586000	0.60984|0.60984	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.612	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		25	213	1	0	2.41591e-17	1	2.66757e-17	25	213					A	16269204	C	A	16269204	3	1	72	1	0	0	0	0	1	0	0	0	17580	594	21	3	565	3	ZBTB17	1	16269204	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		16269204	232981417	1	8902											
EPHA8	2046	broad.mit.edu	37	chr1	22928191	22928191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcattcagaccatgcGggcccagctgaccagcaccc	12	16	1	2	rs199804540		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:22928191G>A	ENST00000166244.3	+	17	3047	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	992	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGACCATGCGGGCCCAGCTG	0.682																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2974-2976)cGg>cAg		EPH receptor A8		G	GLN/ARG	0,4356		0,0,2178	17	18	18		2975	5.2	1	1		18	2,8558		0,2,4278	yes	missense	EPHA8	NM_020526.3	43	0,2,6456	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	992/1006	22928191	2,12914	2178	4280	6458	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22928191G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2975G>A	1.37:g.22928191G>A	ENSP00000166244:p.Arg992Gln						p.R992Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	17	3047	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	992			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2975G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928399	0.92389	0.0	2.34E-4	ENSG00000070886	ENST00000166244	T	0.52983	0.64	5.23	5.23	0.72850	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.64182	0.2575	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61422	-0.7066	10	0.42905	T	0.14	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	992	P29322	EPHA8_HUMAN	Q	992	ENSP00000166244:R992Q	ENSP00000166244:R992Q	R	+	2	0	EPHA8	22800778	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.524000	0.73791	2.722000	0.93159	0.491000	0.48974	CGG		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		6	38	0	0	0	1	0	6	38					A	22928191	G	A	22928191	3	1	72	1	0	0	0	0	1	0	0	0	5191	1116	39	1	3214	1	EPHA8	1	22928191	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	6658987	22928191	226322430	2	8903											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947235	37947235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaactggagaagaagaAgatcctggtgttcacaccat	13	8	1	4	rs201388317		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:37947235A>T	ENST00000373087.6	+	4	733	c.617A>T	c.(616-618)aAg>aTg	p.K206M		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.K206R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGAAGAAGATCCTGGTG	0.607													A|||	1	0.000199681	0.0	0.0	5008	,	,		21032	0.0		0.001	False		,,,				2504	0.0					ENST00000373087.6																			1	Substitution - Missense(1)	p.K206R(1)	kidney(1)	NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(616-618)aAg>aTg		zinc finger CCCH-type containing 12A		A	MET/LYS	0,4406		0,0,2203	215	196	203		617	5.4	1	1		203	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZC3H12A	NM_025079.2	95	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	206/600	37947235	1,13005	2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947235A>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.617A>T	1.37:g.37947235A>T	ENSP00000362179:p.Lys206Met						p.K206M	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			4	733	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	206						Missense_Mutation	SNP	ENST00000373087.6	37	c.617A>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957246	0.92726	0.0	1.16E-4	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.45668	0.89	5.42	5.42	0.78866	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64871	-0.6305	10	0.62326	D	0.03	-37.7323	15.4665	0.75406	1.0:0.0:0.0:0.0	.	206	Q5D1E8	ZC12A_HUMAN	M	206	ENSP00000362179:K206M	ENSP00000362174:K206M	K	+	2	0	ZC3H12A	37719822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	2.054000	0.61138	0.459000	0.35465	AAG		0.607	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		72	397	0	0	0	1	0	72	397					T	37947235	A	T	37947235	3	4	72	1	0	0	0	0	1	0	0	0	17614	72	3	5	627	5	ZC3H12A	1	37947235	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	15019044	37947235	211303386	3	8904											
MACF1	23499	broad.mit.edu	37	chr1	39950371	39950371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcaatagttcttccccGgcctccacaggtgccaaaac	7	16	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:39950371G>A	ENST00000372915.3	+	96	21966	c.21879G>A	c.(21877-21879)ccG>ccA	p.P7293P	MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000567887.1_Silent_p.P7497P|MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000564288.1_Silent_p.P7460P|MACF1_ENST00000539005.1_Silent_p.P5205P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7293	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCTTCCCCGGCCTCCACAG	0.488																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22378-22380)ccG>ccA		microtubule-actin crosslinking factor 1							91	99	96					1																	39950371		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950371G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21879G>A	1.37:g.39950371G>A						MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000372915.3_Silent_p.P7293P|MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000567887.1_Silent_p.P7497P	p.P7460P			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		100	23157	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7293					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.22380G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331374|1.331374	0.24167|0.24167	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046	.|.	.|.	.|.	6.03|6.03	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.39655|0.39655	0.1086|0.1086	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30357|0.30357	-0.9981|-0.9981	4|4	.|.	.|.	.|.	.|.	2.3493|2.3493	0.04280|0.04280	0.2315:0.3717:0.2762:0.1206|0.2315:0.3717:0.2762:0.1206	.|.	.|.	.|.	.|.	S|Q	4339;360|448;273	.|.	.|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39722958|39722958	0.005000|0.005000	0.15991|0.15991	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	-1.287000|-1.287000	0.02785|0.02785	-0.376000|-0.376000	0.07943|0.07943	-0.290000|-0.290000	0.09829|0.09829	GGC|CGG		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		106	561	0	0	0	1	0	106	561					A	39950371	G	A	39950371	2	1	72	1	0	0	0	0	0	0	0	1	9183	1103	39	1		1	MACF1	1	39950371	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	2003136	39950371	209300250	4	8905											
COL24A1	255631	broad.mit.edu	37	chr1	86372901	86372901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcctttaggaccttgactCccaggtggtcctcttgcccc	9	15	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:86372901C>T	ENST00000370571.2	-	28	3120	c.2754G>A	c.(2752-2754)ggG>ggA	p.G918G	COL24A1_ENST00000436319.1_Silent_p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	918	Collagen-like 7.				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)			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)		GACCTTGACTCCCAGGTGGTC	0.348																																						ENST00000370571.2																			0				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						c.(2752-2754)ggG>ggA		collagen, type XXIV, alpha 1							89	88	88					1																	86372901		1822	4072	5894	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86372901C>T	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.2754G>A	1.37:g.86372901C>T						COL24A1_ENST00000436319.1_Silent_p.G918G	p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	28	3120	-			918			Collagen-like 7.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.2754G>A	CCDS41353.1																																																																																				0.348	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		69	451	0	0	0	1	0	69	451					T	86372901	C	T	86372901	2	4	72	1	0	0	0	0	0	0	0	1	3692	842	30	2		2	COL24A1	1	86372901	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	46422530	86372901	162877720	5	8906											
TSPAN2	10100	broad.mit.edu	37	chr1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-													gtgatgagtgtcccattgccTtttcccctgtctttaaggta							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aaafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs|TSPAN2_ENST00000491992.1_5'Flank	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418																																						ENST00000369516.2																			0				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(409-411)aafs		tetraspanin 2							276	251	259					1																	115601537		2203	4300	6503	SO:0001589	frameshift_variant	10100					integral to membrane		g.chr1:115601537delT	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.411delA	1.37:g.115601537delT	ENSP00000358529:p.Lys137fs					TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs|TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs	p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	442	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	137					D6PTH4|Q5TET2|Q8WU05	Frame_Shift_Del	DEL	ENST00000369516.2	37	c.411delA	CCDS881.1																																																																																				0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		7	1172						7	1172	---	---	---	---	-	115601537	T	-	115601537	7	5	72	1	0	1	0	1	0	0	0	0	16697	1606	56	0	270	0	TSPAN2	1	115601537	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	29228636	115601537	133649084	6	8907											
SEMA4A	64218	broad.mit.edu	37	chr1	156128241	156128241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccatctctacacctgCggcaccttcgccttcagccc	6	20	3	0	rs371685429		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:156128241C>T	ENST00000368285.3	+	5	693	c.426C>T	c.(424-426)tgC>tgT	p.C142C	SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	142	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTACACCTGCGGCACCTTCG	0.537																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(424-426)tgC>tgT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A		C	,,,	2,4404	4.2+/-10.8	0,2,2201	195	181	186		426,426,,426	-6.4	0.9	1		186	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	142/762,142/762,,142/762	156128241	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156128241C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.426C>T	1.37:g.156128241C>T						SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.C142C	p.C142C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			5	693	+	Hepatocellular(266;0.158)		142			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.426C>T	CCDS1132.1																																																																																				0.537	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		149	787	0	0	0	1	0	149	787					T	156128241	C	T	156128241	2	4	72	1	0	0	0	0	0	0	0	1	14081	776	27	1		1	SEMA4A	1	156128241	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	40526704	156128241	93122380	7	8908											
HSPA6	3310	broad.mit.edu	37	chr1	161495096	161495096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggttctctccattgacgcTggtgtctttgaggtgaaagc	12	9	2	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:161495096T>G	ENST00000309758.4	+	1	1061	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					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.A216A(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)			CCATTGACGCTGGTGTCTTTG	0.597																																						ENST00000309758.4																			1	Substitution - coding silent(1)	p.A216A(1)	endometrium(1)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(646-648)gcT>gcG		heat shock 70kDa protein 6 (HSP70B')							45	48	47					1																	161495096		2203	4300	6503	SO:0001819	synonymous_variant	3310				response to unfolded protein		ATP binding	g.chr1:161495096T>G		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.648T>G	1.37:g.161495096T>G							p.A216A	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1061	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		216					Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.648T>G	CCDS1231.1																																																																																				0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		31	226	0	0	0	1	0	31	226					G	161495096	T	G	161495096	2	3	72	1	0	0	0	0	0	0	0	1	7445	1567	55	4		4	HSPA6	1	161495096	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	5366855	161495096	87755525	8	8909											
FAM5B	57795	broad.mit.edu	37	chr1	177199125	177199125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgtctcagccacggCggctgctgtggtccccgagc	15	14	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:177199125C>T	ENST00000361539.4	+	2	425	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	38					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCAGCCACGGCGGCTGCTGTG	0.687																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(112-114)gCg>gTg									27	32	30					1																	177199125		2203	4298	6501	SO:0001583	missense	0					extracellular region		g.chr1:177199125C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.113C>T	1.37:g.177199125C>T	ENSP00000354481:p.Ala38Val						p.A38V	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			2	425	+			38					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.113C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292458	0.23564	.	.	ENSG00000198797	ENST00000361539	T	0.14766	2.48	5.41	4.4	0.53042	.	0.194829	0.32852	N	0.005567	T	0.04861	0.0131	N	0.03115	-0.41	0.31179	N	0.702305	B	0.13145	0.007	B	0.06405	0.002	T	0.30387	-0.9980	10	0.07644	T	0.81	-3.279	7.9245	0.29865	0.0:0.8443:0.0:0.1557	.	38	Q9C0B6	FAM5B_HUMAN	V	38	ENSP00000354481:A38V	ENSP00000354481:A38V	A	+	2	0	FAM5B	175465748	0.958000	0.32768	0.942000	0.38095	0.940000	0.58332	2.131000	0.42074	1.012000	0.39366	0.655000	0.94253	GCG		0.687	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		52	314	0	0	0	1	0	52	314					T	177199125	C	T	177199125	3	4	72	1	0	0	0	0	1	0	0	0	5618	768	27	1	115	1	FAM5B	1	177199125	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	15704029	177199125	72051496	9	8910											
CEP350	9857	broad.mit.edu	37	chr1	180063129	180063129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcctcagttaatagaaGtagaagccttaaaatagaaa	8	5	1	4			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:180063129G>A	ENST00000367607.3	+	34	8307	c.7889G>A	c.(7888-7890)aGt>aAt	p.S2630N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388																																						ENST00000367607.3																			2	Substitution - Missense(2)	p.S2630I(2)	kidney(2)	central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7888-7890)aGt>aAt		centrosomal protein 350kDa							37	40	39					1																	180063129		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180063129G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7889G>A	1.37:g.180063129G>A	ENSP00000356579:p.Ser2630Asn					CEP350_ENST00000490141.1_3'UTR	p.S2630N	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	8307	+			2630					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7889G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.521005	0.00967	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.59083	0.29	2.15	0.983	0.19767	.	.	.	.	.	T	0.41282	0.1152	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23084	-1.0198	8	.	.	.	.	5.4385	0.16494	0.6897:0.0:0.3103:0.0	.	2630;2630	E7EU22;Q5VT06	.;CE350_HUMAN	N	2630;94	ENSP00000356579:S2630N	.	S	+	2	0	CEP350	178329752	0.000000	0.05858	0.551000	0.28230	0.817000	0.46193	0.141000	0.16076	0.258000	0.21686	-0.383000	0.06682	AGT		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	215	0	0	0	1	0	8	215					A	180063129	G	A	180063129	3	1	72	1	0	0	0	0	1	0	0	0	3263	1029	36	2	8019	2	CEP350	1	180063129	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	2864004	180063129	69187492	10	8911											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_5'UTR	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	1174						7	1174	---	---	---	---	-	183616828	TTC	-	183616826	7	5	72	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-HZ-A49I-01A-12D-A26I-08	3553697	183616826	65633795	11	8912											
CR2	1380	broad.mit.edu	37	chr1	207647654	207647654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttggttcaaaaagaTtccactttgtaaaggtaagt	9	4	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207647654T>A	ENST00000367058.3	+	12	2321	c.2132T>A	c.(2131-2133)aTt>aAt	p.I711N	CR2_ENST00000367059.3_Missense_Mutation_p.I711N|CR2_ENST00000367057.3_Missense_Mutation_p.I770N|CR2_ENST00000458541.2_Missense_Mutation_p.I684N	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	711	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCAAAAAGATTCCACTTTGT	0.388																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2308-2310)aTt>aAt		complement component (3d/Epstein Barr virus) receptor 2							103	109	107					1																	207647654		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647654T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2132T>A	1.37:g.207647654T>A	ENSP00000356025:p.Ile711Asn					CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N|CR2_ENST00000367058.3_Missense_Mutation_p.I711N	p.I770N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			13	2498	+			840			Sushi 12.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2309T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622221	0.28889	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.66	0.325	0.15903	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62392	0.2424	M	0.69823	2.125	0.09310	N	0.999998	P;P;P	0.48294	0.87;0.908;0.565	P;P;P	0.53006	0.632;0.715;0.568	T	0.51236	-0.8731	9	0.17832	T	0.49	.	2.5985	0.04860	0.1401:0.0791:0.2912:0.4896	.	711;711;770	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	711;770;711;684	ENSP00000356025:I711N;ENSP00000356024:I770N;ENSP00000356026:I711N;ENSP00000404222:I684N	ENSP00000356024:I770N	I	+	2	0	CR2	205714277	0.840000	0.29493	0.001000	0.08648	0.112000	0.19704	-0.039000	0.12124	-0.193000	0.10415	-0.336000	0.08194	ATT		0.388	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		18	520	0	0	0	1	0	18	520					A	207647654	T	A	207647654	3	1	72	1	0	0	0	0	1	0	0	0	3851	1493	52	5	2359	5	CR2	1	207647654	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	24030828	207647654	41602967	12	8913											
CR1L	1379	broad.mit.edu	37	chr1	207867914	207867914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcagtgcattatacCtaacaaatgcacgcctccaa	5	15	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207867914C>G	ENST00000508064.2	+	5	740	c.680C>G	c.(679-681)cCt>cGt	p.P227R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	227						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCATTATACCTAACAAATGC	0.448																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(679-681)cCt>cGt		complement component (3b/4b) receptor 1-like							197	189	191					1																	207867914		1891	4111	6002	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867914C>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.680C>G	1.37:g.207867914C>G	ENSP00000421736:p.Pro227Arg					CR1L_ENST00000530905.1_Intron	p.P227R	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	740	+			227					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.680C>G	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714144	0.15306	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.35605	1.3	2.38	-0.917	0.10485	.	.	.	.	.	T	0.24890	0.0604	L	0.35644	1.08	0.09310	N	1	P	0.38800	0.648	B	0.39419	0.299	T	0.15780	-1.0425	9	0.35671	T	0.21	.	4.9771	0.14146	0.0:0.4127:0.0:0.5873	.	227	Q2VPA4	CR1L_HUMAN	R	227	ENSP00000421736:P227R	ENSP00000434864:P171R	P	+	2	0	CR1L	205934537	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.336000	0.19823	-0.069000	0.12931	0.298000	0.19748	CCT		0.448	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		265	1150	0	0	0	1	0	265	1150					G	207867914	C	G	207867914	3	3	72	1	0	0	0	0	1	0	0	0	3850	681	24	5	698	5	CR1L	1	207867914	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	220260	207867914	41382707	13	8914											
RHOU	58480	broad.mit.edu	37	chr1	228879333	228879333	+	Frame_Shift_Del	DEL	A	A	-													cgagtgttcagccttgactcAaaaaaacctcaaagaggtct							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:228879333delA	ENST00000366691.3	+	3	1289	c.623delA	c.(622-624)caafs	p.Q208fs		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCCTTGACTCAAAAAAACCTC	0.493																																						ENST00000366691.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13						c.(622-624)cafs		ras homolog family member U							84	96	92					1																	228879333		2203	4300	6503	SO:0001589	frameshift_variant	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879333delA		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.623delA	1.37:g.228879333delA	ENSP00000355652:p.Gln208fs						p.Q208fs	NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN			3	1289	+	Breast(184;0.162)	Prostate(94;0.183)	208						Frame_Shift_Del	DEL	ENST00000366691.3	37	c.623delA	CCDS1575.1																																																																																				0.493	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		7	848						7	848	---	---	---	---	-	228879333	A	-	228879333	7	5	72	1	0	1	0	1	0	0	0	0	13395	130	5	0	633	0	RHOU	1	228879333	Frame_Shift_Del	DEL	A	TCGA-HZ-A49I-01A-12D-A26I-08	21011419	228879333	20371288	14	8915											
OR2M7	391196	broad.mit.edu	37	chr1	248487356	248487356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagtgggctatttccCgagacccacagtaggagaag	13	9	0	3	rs145948434		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:248487356C>T	ENST00000317965.2	-	1	543	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172L(1)|p.R172Q(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGCTATTTCCCGAGACCCACA	0.433																																						ENST00000317965.2																			2	Substitution - Missense(2)	p.R172L(1)|p.R172Q(1)	lung(1)|skin(1)	breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(514-516)cGg>cAg		olfactory receptor, family 2, subfamily M, member 7							178	185	183					1																	248487356		2203	4298	6501	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487356C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.515G>A	1.37:g.248487356C>T	ENSP00000324557:p.Arg172Gln						p.R172Q	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	543	-	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)		172					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.515G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199628	0.22121	.	.	ENSG00000177186	ENST00000317965	T	0.00044	8.83	1.54	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	0.295108	0.18339	U	0.144258	T	0.00109	0.0003	L	0.43701	1.375	0.09310	N	1	B	0.31519	0.327	B	0.32583	0.148	T	0.21965	-1.0230	10	0.52906	T	0.07	.	3.5068	0.07693	0.0:0.4143:0.0:0.5857	.	172	Q8NG81	OR2M7_HUMAN	Q	172	ENSP00000324557:R172Q	ENSP00000324557:R172Q	R	-	2	0	OR2M7	246553979	0.002000	0.14202	0.390000	0.26220	0.131000	0.20780	0.708000	0.25719	0.845000	0.35118	0.184000	0.17185	CGG		0.433	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		313	1485	0	0	0	1	0	313	1485					T	248487356	C	T	248487356	3	4	72	1	0	0	0	0	1	0	0	0	11056	652	23	1	426	1	OR2M7	1	248487356	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	19608023	248487356	763265	15	8916											
SLC4A5	57835	broad.mit.edu	37	chr2	74452025	74452025	+	Frame_Shift_Del	DEL	T	T	-													tcctcttcttgtctgtctccTttttttccttctctgggagg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:74452025delT	ENST00000377634.4	-	29	3635	c.3236delA	c.(3235-3237)aagfs	p.K1079fs	SLC4A5_ENST00000423644.1_3'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K982fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K982fs|SLC4A5_ENST00000394019.2_Frame_Shift_Del_p.K1063fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTCTGTCTCCTTTTTTTCCTT	0.517																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3187-3189)agfs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							140	140	140					2																	74452025		2203	4300	6503	SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74452025delT	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3236delA	2.37:g.74452025delT	ENSP00000366861:p.Lys1079fs					SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K982fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K982fs|SLC4A5_ENST00000483195.1_5'UTR	p.K1063fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			28	3585	-			1079						Frame_Shift_Del	DEL	ENST00000377634.4	37	c.3188delA	CCDS1936.1																																																																																				0.517	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	664						8	664	---	---	---	---	-	74452025	T	-	74452025	7	5	72	1	0	1	0	1	0	0	0	0	14707	1609	56	0	189	0	SLC4A5	2	74452025	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08		74452025	168747348	16	8917											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		8	713						8	713	---	---	---	---	-	99977777	TGA	-	99977775	7	5	72	1	0	1	0	1	0	0	0	0	5062	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-HZ-A49I-01A-12D-A26I-08	25525750	99977775	143221598	17	8918											
LRP1B	53353	broad.mit.edu	37	chr2	141200116	141200116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacagtctggatcctcGtcacaaacccacagcttgga	8	14	3	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:141200116G>A	ENST00000389484.3	-	66	11342	c.10371C>T	c.(10369-10371)gaC>gaT	p.D3457D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3457	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		CTGGATCCTCGTCACAAACCC	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(10369-10371)gaC>gaT		low density lipoprotein receptor-related protein 1B							156	144	148					2																	141200116		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200116G>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.10371C>T	2.37:g.141200116G>A		TSP Lung(27;0.18)					p.D3457D	NM_018557.2	NP_061027.2	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)	66	11342	-		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)	3457			LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10371C>T	CCDS2182.1																																																																																				0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		81	431	0	0	0	1	0	81	431					A	141200116	G	A	141200116	2	1	72	1	0	0	0	0	0	0	0	1	8993	1136	40	1		1	LRP1B	2	141200116	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	41222341	141200116	101999257	18	8919											
RBM43	375287	broad.mit.edu	37	chr2	152112047	152112048	+	Splice_Site	INS	-	-	T													aaatttgacttggaaataccINSttttttttctttgaatatta							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:152112047_152112048insT	ENST00000331426.5	-	2	364_365	c.213_214insA	c.(211-216)aaagtt>aaaAgtt	p.V72fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e2+1		RNA binding motif protein 43																																				SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112047_152112048insT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1->A	2.37:g.152112055_152112055dupT							p.NC71_splice	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	364_365	-			71			RRM.		B2RMT5	Splice_Site	INS	ENST00000331426.5	37	c.214_splice	CCDS2191.1																																																																																				0.287	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Frame_Shift_Ins	7	864						7	864	---	---	---	---	T	152112048	-	T	152112047	8	5	72	1	0	1	1	0	0	0	1	0	13187	695	24	0	871	0	RBM43	2	152112047	Splice_Site	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08	10911931	152112047	91087326	19	8920											
TTN	7273	broad.mit.edu	37	chr2	179583694	179583694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggtttgttcaaaagatGgtggttctagatattgcaag	13	4	2	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:179583694G>T	ENST00000591111.1	-	82	23506	c.23282C>A	c.(23281-23283)cCa>cAa	p.P7761Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8078Q|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13299	Ig-like 60.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAAGATGGTGGTTCTAG	0.443																																						ENST00000589042.1																			0				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						c.(24232-24234)cCa>cAa		titin							53	50	51					2																	179583694		1871	4111	5982	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583694G>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.23282C>A	2.37:g.179583694G>T	ENSP00000465570:p.Pro7761Gln					TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.P8078Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	24457	-			7761			Ig-like 63.		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.24233C>A		.	.	.	.	.	.	.	.	.	.	G	13.44	2.237650	0.39598	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94241	0.8151	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95629	0.8688	9	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	7761	Q8WZ42	TITIN_HUMAN	Q	6834	ENSP00000343764:P6834Q	ENSP00000343764:P6834Q	P	-	2	0	TTN	179291939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CCA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	82	1	0	0.00621372	1	0.00627289	9	82					T	179583694	G	T	179583694	3	4	72	1	0	0	0	0	1	0	0	0	16789	1348	47	3	80412	3	TTN	2	179583694	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	27471647	179583694	63615679	20	8921											
UGT1A4	54657	broad.mit.edu	37	chr2	234627977	234627977	+	Frame_Shift_Del	DEL	T	T	-													acctgtcgattcctgctgtgTttttttggaggtacattcca							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:234627977delT	ENST00000373409.3	+	1	554	c.511delT	c.(511-513)tttfs	p.F172fs	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	172					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TCCTGCTGTGTTTTTTTGGAG	0.458																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(511-513)ttfs									175	171	172					2																	234627977		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234627977delT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.511delT	2.37:g.234627977delT	ENSP00000362508:p.Phe172fs					UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	p.F172fs	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	554	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Frame_Shift_Del	DEL	ENST00000373409.3	37	c.511delT	CCDS33405.1																																																																																				0.458	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		7	1219						7	1219	---	---	---	---	-	234627977	T	-	234627977	7	5	72	1	0	1	0	1	0	0	0	0	17001	1725	60	0	513	0	UGT1A4	2	234627977	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	55044283	234627977	8571396	21	8922											
GRM7	2917	broad.mit.edu	37	chr3	7621012	7621013	+	Frame_Shift_Ins	INS	-	-	T													atggcttgccttcattccaaINSttttttttggcaccgctcaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:7621012_7621013insT	ENST00000357716.4	+	8	2693_2694	c.2419_2420insT	c.(2419-2421)attfs	p.I807fs	GRM7_ENST00000402647.2_Frame_Shift_Ins_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Frame_Shift_Ins_p.I807fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTTCATTCCAATTTTTTTTGGC	0.381																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2419-2421)tttfs		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)		,	2,4264		0,2,2131					,	6.2	0.9			38	6,8246		0,6,4120	no	frameshift,frameshift	GRM7	NM_181874.2,NM_000844.3	,	0,8,6251	A1A1,A1R,RR		0.0727,0.0469,0.0639	,	,		8,12510				SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7621012_7621013insT	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2427dupT	3.37:g.7621020_7621020dupT	ENSP00000350348:p.Ile807fs					GRM7_ENST00000403881.1_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.F807fs	p.F807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2693_2694	+			807					Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Ins	INS	ENST00000357716.4	37	c.2419_2420insT	CCDS43042.1																																																																																				0.381	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	223						8	223	---	---	---	---	T	7621013	-	T	7621012	7	5	72	1	0	1	1	0	0	0	0	0	6832	101	4	0	2449	0	GRM7	3	7621012	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08		7621012	190401418	22	8923											
FANCD2	2177	broad.mit.edu	37	chr3	10106107	10106107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggactcctgtgttgttcCggaagggtaggtattgttta	14	5	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:10106107C>T	ENST00000419585.1	+	22	2176	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000287647.3_Missense_Mutation_p.P672L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGTTGTTCCGGAAGGGTAG	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2014-2016)cCg>cTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							262	240	247					3																	10106107		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106107C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2015C>T	3.37:g.10106107C>T	ENSP00000398754:p.Pro672Leu					FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000419585.1_Missense_Mutation_p.P672L	p.P672L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2108	+			672					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2015C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654704	0.29425	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.58	4.65	0.58169	.	0.272563	0.42172	D	0.000754	T	0.31606	0.0802	L	0.46741	1.465	0.38805	D	0.955286	B;B	0.18610	0.016;0.029	B;B	0.11329	0.006;0.006	T	0.15954	-1.0419	10	0.27785	T	0.31	.	6.7806	0.23643	0.1764:0.7359:0.0:0.0877	.	672;672	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	672	ENSP00000287647:P672L;ENSP00000373318:P672L;ENSP00000373317:P672L;ENSP00000398754:P672L	ENSP00000287647:P672L	P	+	2	0	FANCD2	10081107	0.601000	0.26907	0.984000	0.44739	0.786000	0.44442	2.069000	0.41481	2.808000	0.96608	0.585000	0.79938	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			39	730	0	0	0	1	0	39	730					T	10106107	C	T	10106107	3	4	72	1	0	0	0	0	1	0	0	0	5690	652	23	1	2097	1	FANCD2	3	10106107	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	2485095	10106107	187916323	23	8924											
NEK10	152110	broad.mit.edu	37	chr3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgcacaaagtaggcGcagcaactccgctgttagtc	12	12	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	275					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAGTAGGCGCAGCAACTCC	0.502																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(823-825)Cgc>Tgc		NIMA-related kinase 10							44	41	42					3																	27346443		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27346443G>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.823C>T	3.37:g.27346443G>A	ENSP00000395849:p.Arg275Cys					NEK10_ENST00000341435.5_Missense_Mutation_p.R275C	p.R275C			Q6ZWH5	NEK10_HUMAN			13	1185	-			275					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	G	14.46	2.541047	0.45280	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.51071	0.72	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67608	-0.5627	10	0.87932	D	0	.	14.7031	0.69168	0.0717:0.0:0.9283:0.0	.	275	Q6ZWH5	NEK10_HUMAN	C	275	ENSP00000343847:R275C	ENSP00000343847:R275C	R	-	1	0	NEK10	27321447	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	4.640000	0.61368	2.695000	0.91970	0.650000	0.86243	CGC		0.502	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		6	136	0	0	0	1	0	6	136					A	27346443	G	A	27346443	3	1	72	1	0	0	0	0	1	0	0	0	10364	1087	38	1	1367	1	NEK10	3	27346443	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	17240336	27346443	170675987	24	8925											
SLC6A20	54716	broad.mit.edu	37	chr3	45817325	45817325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaggaggcacagcgcCggctcccactgcacaccccc	12	19	0	0	rs376095861		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:45817325C>T	ENST00000358525.4	-	4	625	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC6A20_ENST00000456124.2_Silent_p.P170P|SLC6A20_ENST00000353278.4_Silent_p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	170					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCACAGCGCCGGCTCCCACT	0.622																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(508-510)ccG>ccA		solute carrier family 6 (proline IMINO transporter), member 20		C	,	0,4406		0,0,2203	131	118	123		510,510	-4.2	0.7	3		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	170/593,170/556	45817325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45817325C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.510G>A	3.37:g.45817325C>T						SLC6A20_ENST00000456124.2_Silent_p.P170P|SLC6A20_ENST00000353278.4_Silent_p.P170P	p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	4	625	-			170					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.510G>A	CCDS43077.1																																																																																				0.622	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		107	448	0	0	0	1	0	107	448					T	45817325	C	T	45817325	2	4	72	1	0	0	0	0	0	0	0	1	14734	639	23	1		1	SLC6A20	3	45817325	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	18470882	45817325	152205105	25	8926											
PIK3CB	5291	broad.mit.edu	37	chr3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-													cagaagctctagggcctcccGggggggcagtttaggccaaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:138413710delG	ENST00000477593.1	-	13	1883	c.1810delC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.R604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.R50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)	AGGGCCTCCCGGGGGGGCAGT	0.468																																						ENST00000477593.1																			0				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						c.(1810-1812)ggfs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							50	58	55					3																	138413710		2203	4300	6503	SO:0001589	frameshift_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.chr3:138413710delG		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.1810delC	3.37:g.138413710delG	ENSP00000418143:p.Arg604fs					PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.R604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.R50fs	p.R604fs			P42338	PK3CB_HUMAN			13	1883	-			604			PI3K helical.		D3DNF0|Q24JU2	Frame_Shift_Del	DEL	ENST00000477593.1	37	c.1810delC	CCDS3104.1																																																																																				0.468	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			8	643						8	643	---	---	---	---	-	138413710	G	-	138413710	7	5	72	1	0	1	0	1	0	0	0	0	11956	1115	39	0	1444	0	PIK3CB	3	138413710	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08	92596385	138413710	59608720	26	8927											
RNF168	165918	broad.mit.edu	37	chr3	196214353	196214353	+	Frame_Shift_Del	DEL	T	T	-													tcgccttttttctgcctgtcTtttttcctcttcttcctcct							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:196214353delT	ENST00000318037.3	-	3	1069	c.475delA	c.(475-477)agafs	p.R159fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	159	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TCTGCCTGTCTTTTTTCCTCT	0.458																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(475-477)gafs		ring finger protein 168, E3 ubiquitin protein ligase							440	409	419					3																	196214353		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214353delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.475delA	3.37:g.196214353delT	ENSP00000320898:p.Arg159fs						p.R159fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1069	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		159			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.475delA	CCDS3317.1																																																																																				0.458	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		9	1642						9	1642	---	---	---	---	-	196214353	T	-	196214353	7	5	72	1	0	1	0	1	0	0	0	0	13509	1617	56	0	1256	0	RNF168	3	196214353	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	57800643	196214353	1808077	27	8928											
NUDT9	53343	broad.mit.edu	37	chr4	88370318	88370318	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggatagcagtggaaaTaaaatcatgcatcctgtttc	9	6	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:88370318T>A	ENST00000302174.4	+	5	879	c.555T>A	c.(553-555)aaT>aaA	p.N185K	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000473942.1_Missense_Mutation_p.N135K	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	185	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GCAGTGGAAATAAAATCATGC	0.338																																						ENST00000473942.1																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(403-405)aaT>aaA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							96	95	95					4																	88370318		2203	4299	6502	SO:0001583	missense	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88370318T>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.555T>A	4.37:g.88370318T>A	ENSP00000303575:p.Asn185Lys					NUDT9_ENST00000302174.4_Missense_Mutation_p.N185K|NUDT9_ENST00000515371.1_3'UTR	p.N135K	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	5	527	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	185					Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	c.405T>A	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607206	0.14002	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.18	3.95	0.45737	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.390200	0.31697	N	0.007215	T	0.08626	0.0214	L	0.34521	1.04	0.38231	D	0.941037	B;B	0.34200	0.144;0.441	B;B	0.30401	0.019;0.115	T	0.19289	-1.0310	10	0.09590	T	0.72	-20.4549	9.3747	0.38275	0.0:0.0829:0.0:0.9171	.	185;185	Q96KB3;Q9BW91	.;NUDT9_HUMAN	K	185;135;135;153	ENSP00000303575:N185K;ENSP00000424702:N135K;ENSP00000421811:N135K;ENSP00000410270:N153K	ENSP00000303575:N185K	N	+	3	2	NUDT9	88589342	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.139000	0.31504	0.878000	0.35920	0.460000	0.39030	AAT		0.338	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			77	198	0	0	0	1	0	77	198					A	88370318	T	A	88370318	3	1	72	1	0	0	0	0	1	0	0	0	10788	1403	49	5	573	5	NUDT9	4	88370318	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08		88370318	102783958	28	8929											
ENPP6	133121	broad.mit.edu	37	chr4	185033945	185033945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcatgtgttccactgtGctcagtttgttatatatctg	8	8	3	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:185033945G>A	ENST00000296741.2	-	6	1014	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	291					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTCCACTGTGCTCAGTTTGT	0.398																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(871-873)agC>agT		ectonucleotide pyrophosphatase/phosphodiesterase 6							145	141	142					4																	185033945		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185033945G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.873C>T	4.37:g.185033945G>A							p.S291S	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	6	1014	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	291					Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.873C>T	CCDS3834.1																																																																																				0.398	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		107	444	0	0	0	1	0	107	444					A	185033945	G	A	185033945	2	1	72	1	0	0	0	0	0	0	0	1	5152	1310	46	2		2	ENPP6	4	185033945	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	96663627	185033945	6120331	29	8930											
MTMR12	54545	broad.mit.edu	37	chr5	32235181	32235181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaattcaaatgccggggGatgctggtgcaccagctgcc	14	10	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:32235181G>A	ENST00000382142.3	-	14	1569	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	467	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCCGGGGGATGCTGGTGC	0.453																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1399-1401)Ccc>Tcc		myotubularin related protein 12							55	56	56					5																	32235181		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32235181G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1399C>T	5.37:g.32235181G>A	ENSP00000371577:p.Pro467Ser					MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|MTMR12_ENST00000264934.5_Intron	p.P467S	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			14	1569	-			467			Interaction with MTM1.|Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1399C>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097433	0.56075	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.96619	-4.07;-4.07	5.12	3.3	0.37823	Myotubularin phosphatase domain (1);	0.281329	0.35903	N	0.002906	D	0.94430	0.8208	M	0.73753	2.245	0.80722	D	1	B;P	0.48503	0.116;0.911	B;B	0.39840	0.051;0.311	D	0.91776	0.5431	10	0.54805	T	0.06	.	9.7409	0.40418	0.0733:0.0:0.7865:0.1402	.	467;467	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	S	467	ENSP00000280285:P467S;ENSP00000371577:P467S	ENSP00000280285:P467S	P	-	1	0	MTMR12	32270938	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.051000	0.64257	0.529000	0.28599	0.462000	0.41574	CCC		0.453	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		8	268	0	0	0	1	0	8	268					A	32235181	G	A	32235181	3	1	72	1	0	0	0	0	1	0	0	0	9982	1174	41	2	856	2	MTMR12	5	32235181	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		32235181	148680079	30	8931											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		13	435						13	435	---	---	---	---	-	44388717	AGC	-	44388715	7	5	72	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-HZ-A49I-01A-12D-A26I-08	12153534	44388715	136526545	31	8932											
ITGA1	3672	broad.mit.edu	37	chr5	52235424	52235424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttcatttctagaatgCaaactgcagaccccatatct	4	10	3	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:52235424C>T	ENST00000282588.6	+	25	3541	c.3083C>T	c.(3082-3084)gCa>gTa	p.A1028V	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1028					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTAGAATGCAAACTGCAGA	0.383																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3082-3084)gCa>gTa		integrin, alpha 1							91	90	90					5																	52235424		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52235424C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3083C>T	5.37:g.52235424C>T	ENSP00000282588:p.Ala1028Val					CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	p.A1028V	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			25	3541	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1028					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3083C>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976553	0.18736	.	.	ENSG00000213949	ENST00000282588	T	0.43688	0.94	6.05	0.357	0.16079	Integrin alpha-2 (1);	0.925991	0.09267	N	0.825684	T	0.12347	0.0300	N	0.00583	-1.355	0.20489	N	0.999896	B	0.02656	0.0	B	0.04013	0.001	T	0.31194	-0.9952	10	0.13108	T	0.6	.	8.9331	0.35684	0.0:0.5162:0.0:0.4838	.	1028	P56199	ITA1_HUMAN	V	1028	ENSP00000282588:A1028V	ENSP00000282588:A1028V	A	+	2	0	ITGA1	52271181	0.062000	0.20869	0.366000	0.25914	0.548000	0.35241	0.078000	0.14761	0.099000	0.17552	0.650000	0.86243	GCA		0.383	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		36	238	0	0	0	1	0	36	238					T	52235424	C	T	52235424	3	4	72	1	0	0	0	0	1	0	0	0	7902	710	25	2	3181	2	ITGA1	5	52235424	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	7846709	52235424	128679836	32	8933											
PRL	5617	broad.mit.edu	37	chr6	22292852	22292852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccttggtaatgaaccccCggccatgggtataccgttta	11	11	0	1	rs570230762		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:22292852C>T	ENST00000306482.1	-	3	745	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	76					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AATGAACCCCCGGCCATGGGT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		16481	0.001		0.0	False		,,,				2504	0.0					ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(226-228)cGg>cAg		prolactin							110	91	97					6																	22292852		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22292852C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.227G>A	6.37:g.22292852C>T	ENSP00000302150:p.Arg76Gln					RP3-404K8.2_ENST00000561912.1_RNA	p.R76Q	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			3	745	-	Ovarian(93;0.163)		76					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.227G>A	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178944	0.38511	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.88431	-2.38	6.07	3.33	0.38152	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.249538	0.42294	N	0.000740	T	0.71290	0.3322	L	0.54863	1.705	0.09310	N	0.999997	B;P	0.43826	0.024;0.818	B;B	0.33799	0.023;0.17	T	0.61662	-0.7017	10	0.33940	T	0.23	2.0715	9.4164	0.38523	0.0:0.7519:0.1196:0.1286	.	76;77	P01236;Q5I0G2	PRL_HUMAN;.	Q	76;45	ENSP00000302150:R76Q	ENSP00000302150:R76Q	R	-	2	0	PRL	22400831	0.014000	0.17966	0.001000	0.08648	0.607000	0.37147	0.491000	0.22419	0.443000	0.26582	0.655000	0.94253	CGG		0.458	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		51	183	0	0	0	1	0	51	183					T	22292852	C	T	22292852	3	4	72	1	0	0	0	0	1	0	0	0	12575	652	23	1	468	1	PRL	6	22292852	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		22292852	148822215	33	8934											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		9	1716						9	1716	---	---	---	---	-	27420810	T	-	27420810	7	5	72	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	5127958	27420810	143694257	34	8935											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-													ctttagccttctgcacatgcTttttttgcatcatgcctttc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170	155	159					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	690						7	690	---	---	---	---	-	34826124	T	-	34826124	7	5	72	1	0	1	0	1	0	0	0	0	17022	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	7405314	34826124	136288943	35	8936											
BACH2	60468	broad.mit.edu	37	chr6	90661558	90661558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaggcaaactgtaacagCggcccaaagcccctggctgt	12	12	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.P89P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(265-267)ccG>ccA		BTB and CNC homology 1, basic leucine zipper transcription factor 2							46	46	46					6																	90661558		2202	4297	6499	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661558C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.267G>A	6.37:g.90661558C>T						RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA	p.P89P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	974	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	89			BTB.		E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.267G>A	CCDS5026.1																																																																																				0.527	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		8	280	0	0	0	1	0	8	280					T	90661558	C	T	90661558	2	4	72	1	0	0	0	0	0	0	0	1	1285	755	27	1		1	BACH2	6	90661558	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	55835434	90661558	80453509	36	8937											
SKAP2	8935	broad.mit.edu	37	chr7	26883668	26883668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagagggggcttcatcGtctttatcatatcgttctga	9	10	5	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:26883668G>A	ENST00000345317.2	-	4	601	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	96					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGCTTCATCGTCTTTATCAT	0.408																																						ENST00000539623.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17								src kinase associated phosphoprotein 2							196	193	194					7																	26883668		2203	4300	6503	SO:0001819	synonymous_variant	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26883668G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.288C>T	7.37:g.26883668G>A						SKAP2_ENST00000345317.2_Silent_p.D96D				O75563	SKAP2_HUMAN			0	390	-								A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Translation_Start_Site	SNP	ENST00000345317.2	37		CCDS5400.1																																																																																				0.408	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			144	811	0	0	0	1	0	144	811					A	26883668	G	A	26883668	2	1	72	1	0	0	0	0	0	0	0	1	14406	1136	40	1		1	SKAP2	7	26883668	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		26883668	132254995	37	8938											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094411	30094411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctggatcagactcaagtTgctctccggaatgcctctgg	11	11	5	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:30094411T>G	ENST00000449726.1	+	8	1233	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	295					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGACTCAAGTTGCTCTCCGGA	0.403																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(883-885)Tgc>Ggc		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							154	149	151					7																	30094411		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094411T>G	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.883T>G	7.37:g.30094411T>G	ENSP00000397947:p.Cys295Gly					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G	p.C295G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			8	1233	+			295					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.883T>G	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	T	6.983	0.551408	0.13374	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.63	1.47	0.22746	.	1.546830	0.03461	N	0.212180	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.16541	-1.0399	9	0.20046	T	0.44	-5.9383	0.163	0.00105	0.2309:0.1762:0.2132:0.3797	.	295;295;295;295	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	G	295;295;295;295;321	.	ENSP00000258679:C295G	C	+	1	0	PLEKHA8	30060936	0.141000	0.22595	0.004000	0.12327	0.048000	0.14542	1.196000	0.32198	0.445000	0.26639	0.533000	0.62120	TGC		0.403	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		102	548	0	0	0	1	0	102	548					G	30094411	T	G	30094411	3	3	72	1	0	0	0	0	1	0	0	0	12104	1812	63	4	913	4	PLEKHA8	7	30094411	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	3210743	30094411	129044252	38	8939											
MLL3	58508	broad.mit.edu	37	chr7	151856009	151856009	+	Frame_Shift_Del	DEL	T	T	-													cttgtttctcctcttcgtccTttttccttttctttgagcga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:151856009delT	ENST00000262189.6	-	44	11827	c.11609delA	c.(11608-11610)aagfs	p.K3870fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K3870fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3870					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTCTTCGTCCTTTTTCCTTTT	0.458																																						ENST00000355193.2																			0											c.(11608-11610)agfs		lysine (K)-specific methyltransferase 2C							371	334	346					7																	151856009		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151856009delT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11609delA	7.37:g.151856009delT	ENSP00000262189:p.Lys3870fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K3870fs	p.K3870fs							44	11827	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.11609delA	CCDS5931.1																																																																																				0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	1752						8	1752	---	---	---	---	-	151856009	T	-	151856009	7	5	72	1	0	1	0	1	0	0	0	0	9663	1609	56	0	3190	0	MLL3	7	151856009	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	121761598	151856009	7282654	39	8940											
MFHAS1	9258	broad.mit.edu	37	chr8	8749703	8749703	+	Frame_Shift_Del	DEL	G	G	-													ccaggggcagcagcgcggcaGggaactcctcgaagaggttg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:8749703delG	ENST00000276282.6	-	1	1452	c.866delC	c.(865-867)cctfs	p.P289fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	289										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGCGCGGCAGGGAACTCCTC	0.627																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(865-867)ctfs		malignant fibrous histiocytoma amplified sequence 1							26	29	28					8																	8749703		2202	4300	6502	SO:0001589	frameshift_variant	9258							g.chr8:8749703delG	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.866delC	8.37:g.8749703delG	ENSP00000276282:p.Pro289fs						p.P289fs	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1452	-		Hepatocellular(245;0.217)	289					Q96CI0	Frame_Shift_Del	DEL	ENST00000276282.6	37	c.866delC	CCDS34844.1																																																																																				0.627	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		55	229						55	229	---	---	---	---	-	8749703	G	-	8749703	7	5	72	1	0	1	0	1	0	0	0	0	9562	1000	35	0	2304	0	MFHAS1	8	8749703	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08		8749703	137614319	40	8941											
RP1L1	94137	broad.mit.edu	37	chr8	10470187	10470187	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccgtcctccggggtcCtggggcagcaggaggactct	14	16	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:10470187C>G	ENST00000382483.3	-	4	1644	c.1421G>C	c.(1420-1422)aGg>aCg	p.R474T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	474					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)		CTCCGGGGTCCTGGGGCAGCA	0.701																																						ENST00000382483.3																			0				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						c.(1420-1422)aGg>aCg		retinitis pigmentosa 1-like 1							25	30	28					8																	10470187		1954	4118	6072	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470187C>G	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.1421G>C	8.37:g.10470187C>G	ENSP00000371923:p.Arg474Thr						p.R474T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1644	-			474					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1421G>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778440	0.31502	.	.	ENSG00000183638	ENST00000382483	T	0.04917	3.53	4.99	4.99	0.66335	.	0.443402	0.16804	U	0.198863	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	P	0.48764	0.915	P	0.45232	0.474	T	0.38394	-0.9663	10	0.30854	T	0.27	-7.7844	8.8491	0.35188	0.0:0.8913:0.0:0.1087	.	474	A6NKC6	.	T	474	ENSP00000371923:R474T	ENSP00000371923:R474T	R	-	2	0	RP1L1	10507597	0.041000	0.20044	0.010000	0.14722	0.065000	0.16274	1.394000	0.34509	2.302000	0.77476	0.561000	0.74099	AGG		0.701	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			67	324	0	0	0	1	0	67	324					G	10470187	C	G	10470187	3	3	72	1	0	0	0	0	1	0	0	0	13583	681	24	5	5785	5	RP1L1	8	10470187	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	1720484	10470187	135893835	41	8942											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203	182	189					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		7	1026						7	1026	---	---	---	---	-	38205092	T	-	38205092	7	5	72	1	0	1	0	1	0	0	0	0	17417	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	27734905	38205092	108158930	42	8943											
OTUD6B	51633	broad.mit.edu	37	chr8	92097044	92097046	+	In_Frame_Del	DEL	ATT	ATT	-													tgcatatggcttaggagaacAttataattcggttacacggt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:92097044_92097046delATT	ENST00000285420.4	+	7	1019_1021	c.920_922delATT	c.(919-924)cattat>cat	p.Y308del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.Y177del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	278							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTAGGAGAACATTATAATTCGGT	0.276																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(919-924)cat>c		OTU domain containing 6B																																				SO:0001651	inframe_deletion	51633							g.chr8:92097044_92097046delATT		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.920_922delATT	8.37:g.92097044_92097046delATT	ENSP00000285420:p.Tyr308del					OTUD6B_ENST00000404789.3_In_Frame_Del_p.HY176del	p.HY307del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		7	1019_1021	+			277					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	In_Frame_Del	DEL	ENST00000285420.4	37	c.920_922delATT	CCDS6253.2																																																																																				0.276	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		17	76						17	76	---	---	---	---	-	92097046	ATT	-	92097044	7	5	72	1	0	1	0	1	0	0	0	0	11359	217	8	0	946	0	OTUD6B	8	92097044	In_Frame_Del	DEL	ATT	TCGA-HZ-A49I-01A-12D-A26I-08	53891952	92097044	54266978	43	8944											
VPS13B	157680	broad.mit.edu	37	chr8	100861089	100861089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catcactgtggccccagaagGaaaagcaggacctattttaa	9	10	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:100861089G>T	ENST00000358544.2	+	55	10214	c.10103G>T	c.(10102-10104)gGa>gTa	p.G3368V	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					protein transport (GO:0015031)					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)			GCCCCAGAAGGAAAAGCAGGA	0.398																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(10102-10104)gGa>gTa		vacuolar protein sorting 13 homolog B (yeast)							175	158	164					8																	100861089		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100861089G>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.10103G>T	8.37:g.100861089G>T	ENSP00000351346:p.Gly3368Val					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V	p.G3368V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		55	10214	+	Breast(36;3.73e-07)		3368					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10103G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707973	0.68615	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73469	-0.75;-0.75	5.83	4.04	0.47022	.	0.181715	0.47852	D	0.000206	T	0.73458	0.3589	L	0.40543	1.245	0.80722	D	1	P;P	0.47191	0.836;0.891	P;P	0.52343	0.696;0.617	T	0.68762	-0.5323	10	0.27785	T	0.31	.	12.4675	0.55768	0.1326:0.0:0.8674:0.0	.	3343;3368	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	3343;3368	ENSP00000349685:G3343V;ENSP00000351346:G3368V	ENSP00000349685:G3343V	G	+	2	0	VPS13B	100930265	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.888000	0.69758	0.817000	0.34445	0.650000	0.86243	GGA		0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		16	618	1	0	1.15088e-07	1	1.20785e-07	16	618					T	100861089	G	T	100861089	3	4	72	1	0	0	0	0	1	0	0	0	17244	1174	41	3	10511	3	VPS13B	8	100861089	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	8764045	100861089	45502933	44	8945											
PLEC	5339	broad.mit.edu	37	chr8	144992083	144992083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaccggtggccgcctgcGcctccaggagctcaaaggct	13	15	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:144992083G>A	ENST00000322810.4	-	32	12486	c.12317C>T	c.(12316-12318)gCg>gTg	p.A4106V	PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4106	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCGCCTGCGCCTCCAGGAG	0.632																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12316-12318)gCg>gTg		plectin							27	32	31					8																	144992083		2114	4221	6335	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992083G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12317C>T	8.37:g.144992083G>A	ENSP00000323856:p.Ala4106Val					PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V	p.A4106V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12486	-			4106			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12317C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506057	0.12883	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.08	4.21	0.49690	.	0.000000	0.64402	U	0.000008	D	0.89410	0.6707	M	0.93854	3.465	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.61940	0.833;0.833;0.833;0.896;0.833;0.833;0.833;0.833	D	0.91813	0.5461	10	0.66056	D	0.02	.	13.6323	0.62202	0.0753:0.0:0.9247:0.0	.	3996;3955;3947;4106;3937;3969;3973;3969	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3969;3973;3969;3937;4106;3947;3955;3996;3992	ENSP00000344848:A3969V;ENSP00000350277:A3973V;ENSP00000346602:A3969V;ENSP00000381756:A3937V;ENSP00000323856:A4106V;ENSP00000347044:A3947V;ENSP00000348702:A3955V;ENSP00000388180:A3996V;ENSP00000434583:A3992V	ENSP00000323856:A4106V	A	-	2	0	PLEC	145064071	1.000000	0.71417	0.926000	0.36857	0.002000	0.02628	6.524000	0.73791	1.397000	0.46682	-0.237000	0.12165	GCG		0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		27	163	0	0	0	1	0	27	163					A	144992083	G	A	144992083	3	1	72	1	0	0	0	0	1	0	0	0	12094	1087	38	1	1741	1	PLEC	8	144992083	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	44130994	144992083	1371939	45	8946											
HNRNPK	3190	broad.mit.edu	37	chr9	86586806	86586808	+	In_Frame_Del	DEL	GGT	GGT	-													aaacaacttacccccctctaGgtggtggtggtggaggaaga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:86586806_86586808delGGT	ENST00000376264.2	-	11	1200_1202	c.942_944delACC	c.(940-945)ccacct>cct	p.314_315PP>P	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_In_Frame_Del_p.314_315PP>P|HNRNPK_ENST00000360384.5_In_Frame_Del_p.314_315PP>P|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_In_Frame_Del_p.314_315PP>P|HNRNPK_ENST00000376263.3_In_Frame_Del_p.314_315PP>P	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	314	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Poly-Pro.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGGTG	0.522																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(940-945)cct>cc		heterogeneous nuclear ribonucleoprotein K																																				SO:0001651	inframe_deletion	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	g.chr9:86586806_86586808delGGT		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.942_944delACC	9.37:g.86586815_86586817delGGT	ENSP00000365440:p.Pro315del					HNRNPK_ENST00000351839.3_In_Frame_Del_p.PP314del|HNRNPK_ENST00000360384.5_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376281.4_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376264.2_In_Frame_Del_p.PP314del	p.PP314del	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			11	1165_1167	-			314			2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	In_Frame_Del	DEL	ENST00000376264.2	37	c.942_944delACC	CCDS6667.1																																																																																				0.522	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			9	670						9	670	---	---	---	---	-	86586808	GGT	-	86586806	7	5	72	1	0	1	0	1	0	0	0	0	7299	1000	35	0	513	0	HNRNPK	9	86586806	In_Frame_Del	DEL	GGT	TCGA-HZ-A49I-01A-12D-A26I-08		86586806	54626625	46	8947											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		9	1848						9	1848	---	---	---	---	-	94172779	T	-	94172779	7	5	72	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	7585973	94172779	47040652	47	8948											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:123954450delT	ENST00000373840.4	-	3	342	c.105delA	c.(103-105)aaa>aa	p.K35fs		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	35					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGAACTTACATTTTTTTTCTG	0.294																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.e3+1		RAB14, member RAS oncogene family							135	138	137					9																	123954450		2202	4297	6499	SO:0001630	splice_region_variant	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123954450delT	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"RAB, member RAS oncogene"	16524	protein-coding gene	gene with protein product	"F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14"	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.106+1A>-	9.37:g.123954450delT							p.K35_splice	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			3	342	-			35					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Splice_Site	DEL	ENST00000373840.4	37	c.106_splice	CCDS6827.1																																																																																				0.294	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322	Frame_Shift_Del	7	579						7	579	---	---	---	---	-	123954450	T	-	123954450	8	5	72	1	0	1	0	1	0	0	1	0	12950	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	29781671	123954450	17258981	48	8949											
NR6A1	2649	broad.mit.edu	37	chr9	127316820	127316820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaaatgagacaggttcGttgttcagcccgatcatctg	9	12	3	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:127316820G>A	ENST00000487099.2	-	3	329	c.172C>T	c.(172-174)Cga>Tga	p.R58*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	58					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGACAGGTTCGTTGTTCAGCC	0.463																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(172-174)Cga>Tga		nuclear receptor subfamily 6, group A, member 1							94	87	90					9																	127316820		2203	4300	6503	SO:0001587	stop_gained	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127316820G>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.172C>T	9.37:g.127316820G>A	ENSP00000420267:p.Arg58*					NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*	p.R58*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			3	329	-			58					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	37	c.172C>T	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168299	0.94768	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.3582	0.55188	0.0:0.0:0.6932:0.3068	.	.	.	.	X	58;54;54;58;16	.	ENSP00000341135:R58X	R	-	1	2	NR6A1	126356641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.424000	0.59868	1.256000	0.44068	0.563000	0.77884	CGA		0.463	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			82	357	0	0	0	1	0	82	357					A	127316820	G	A	127316820	4	1	72	1	0	0	0	0	0	1	0	0	10679	1153	40	1	1302	1	NR6A1	9	127316820	Nonsense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	3362370	127316820	13896611	49	8950											
CUBN	8029	broad.mit.edu	37	chr10	17026279	17026279	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcggggcctccatagatCtaacatgggatgtaggaaaa	11	7	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17026279C>A	ENST00000377833.4	-	30	4416		c.e30-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATAGATCTAACATGGGA	0.473																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.e30-1		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						57	56	57					10																	17026279		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17026279C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4351-1G>T	10.37:g.17026279C>A								NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			30	4416	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37		CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547261	0.65311	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17066285	1.000000	0.71417	0.929000	0.37066	0.742000	0.42306	7.165000	0.77544	2.826000	0.97356	0.655000	0.94253	.		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	48	232	1	0	2.40228e-13	1	2.59838e-13	48	232					A	17026279	C	A	17026279	5	1	72	1	0	0	0	0	0	0	1	0	4062	927	32	3	6673	3	CUBN	10	17026279	Splice_Site	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		17026279	118508468	50	8951											
STAM	8027	broad.mit.edu	37	chr10	17756616	17756618	+	In_Frame_Del	DEL	CTG	CTG	-													tagtcctcctcctgccgctaCtgctgctgctgcaactgccg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17756616_17756618delCTG	ENST00000377524.3	+	14	1675_1677	c.1460_1462delCTG	c.(1459-1464)actgct>act	p.A491del	STAM_ENST00000540523.1_In_Frame_Del_p.A380del	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	491					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCCGCTACTGCTGCTGCTGC	0.493																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1459-1464)act>a		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1																																				SO:0001651	inframe_deletion	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17756616_17756618delCTG	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1460_1462delCTG	10.37:g.17756625_17756627delCTG	ENSP00000366746:p.Ala491del					STAM_ENST00000540523.1_In_Frame_Del_p.TA376del	p.TA487del	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			14	1675_1677	+			487					B0YJ99|D3DRU5|Q8N6D9	In_Frame_Del	DEL	ENST00000377524.3	37	c.1460_1462delCTG	CCDS7122.1																																																																																				0.493	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		7	653						7	653	---	---	---	---	-	17756618	CTG	-	17756616	7	5	72	1	0	1	0	1	0	0	0	0	15300	565	20	0	1514	0	STAM	10	17756616	In_Frame_Del	DEL	CTG	TCGA-HZ-A49I-01A-12D-A26I-08	730337	17756616	117778131	51	8952											
ARL5B	221079	broad.mit.edu	37	chr10	18961589	18961595	+	Frame_Shift_Del	DEL	ACTAGCT	ACTAGCT	-													gatagcattgacagggaacgActagctattacaaaagaaga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:18961589_18961595delACTAGCT	ENST00000377275.3	+	4	527_533	c.294_300delACTAGCT	c.(292-300)cgactagctfs	p.RLA98fs		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	98					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						ACAGGGAACGACTAGCTATTACAAAAG	0.309																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(292-300)cgfs		ADP-ribosylation factor-like 5B																																				SO:0001589	frameshift_variant	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18961589_18961595delACTAGCT	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.294_300delACTAGCT	10.37:g.18961589_18961595delACTAGCT	ENSP00000366487:p.Arg98fs						p.RLA98fs	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			4	527_533	+			98						Frame_Shift_Del	DEL	ENST00000377275.3	37	c.294_300delACTAGCT	CCDS7131.1																																																																																				0.309	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		43	507						43	507	---	---	---	---	-	18961595	ACTAGCT	-	18961589	7	5	72	1	0	1	0	1	0	0	0	0	941	262	10	0	308	0	ARL5B	10	18961589	Frame_Shift_Del	DEL	ACTAGCT	TCGA-HZ-A49I-01A-12D-A26I-08	1204973	18961589	116573158	52	8953											
ANKRD26	22852	broad.mit.edu	37	chr10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-													ctttcttttttgaattaatcCatcatcatcatcatcatctt					rs561705414	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gatgga>gga	p.D579del	ANKRD26_ENST00000376070.3_In_Frame_Del_p.D136del|ANKRD26_ENST00000436985.2_In_Frame_Del_p.D595del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.				glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAATTAATCcatcatcatcatc	0.345														3	0.000599042	0.0	0.0	5008	,	,		17873	0.001		0.0	False		,,,				2504	0.002					ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1735-1740)gga>g		ankyrin repeat domain 26																																				SO:0001651	inframe_deletion	22852					centrosome		g.chr10:27337806_27337808delCAT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1736_1738delATG	10.37:g.27337815_27337817delCAT	ENSP00000365255:p.Asp579del					ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del	p.DG579del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			17	1901_1903	-			579			Poly-Asp.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Del	DEL	ENST00000376087.4	37	c.1736_1738delATG	CCDS41499.1																																																																																				0.345	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	299						7	299	---	---	---	---	-	27337808	CAT	-	27337806	7	5	72	1	0	1	0	1	0	0	0	0	654	603	21	0	3466	0	ANKRD26	10	27337806	In_Frame_Del	DEL	CAT	TCGA-HZ-A49I-01A-12D-A26I-08	8376217	27337806	108196941	53	8954											
ARHGAP12	94134	broad.mit.edu	37	chr10	32143120	32143120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgtagtagttttcTtccgatgaaagaagctacaa	10	6	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:32143120T>C	ENST00000344936.2	-	5	1197	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000375250.5_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	321					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTAGTTTTCTTCCGATGAAA	0.348																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(961-963)gaA>gaG		Rho GTPase activating protein 12							74	68	70					10																	32143120		2203	4300	6503	SO:0001819	synonymous_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32143120T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.963A>G	10.37:g.32143120T>C						ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron	p.E321E	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			5	1204	-		Prostate(175;0.0199)	321					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.963A>G	CCDS7170.1																																																																																				0.348	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			73	296	0	0	0	1	0	73	296					C	32143120	T	C	32143120	2	2	72	1	0	0	0	0	0	0	0	1	865	1606	56	4		4	ARHGAP12	10	32143120	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	4805314	32143120	103391627	54	8955											
P4HA1	5033	broad.mit.edu	37	chr10	74806700	74806700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacccttggttttgctaggtCtttgacgatttcaatttctg	8	8	3	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:74806700C>G	ENST00000307116.2	-	8	1176	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	P4HA1_ENST00000412021.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	354					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTGCTAGGTCTTTGACGATT	0.328																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1060-1062)Gac>Cac		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						106	106	106					10																	74806700		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806700C>G		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1060G>C	10.37:g.74806700C>G	ENSP00000307318:p.Asp354His					P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H	p.D354H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1393	-	Prostate(51;0.0198)		354					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1060G>C		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047064	0.55110	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.45668	0.9;0.9;0.9;0.9;0.9;0.89	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.204990	0.49916	D	0.000139	T	0.36082	0.0954	L	0.29908	0.895	0.44188	D	0.997006	B;P;P	0.41159	0.002;0.626;0.74	B;B;B	0.36534	0.006;0.227;0.227	T	0.18871	-1.0323	10	0.56958	D	0.05	-16.6435	20.369	0.98888	0.0:1.0:0.0:0.0	.	354;354;354	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	354	ENSP00000307318:D354H;ENSP00000362099:D354H;ENSP00000411688:D354H;ENSP00000378353:D354H;ENSP00000263556:D354H;ENSP00000414464:D354H	ENSP00000263556:D354H	D	-	1	0	P4HA1	74476706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.698000	0.61789	2.819000	0.97034	0.650000	0.86243	GAC		0.328	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		17	670	0	0	0	1	0	17	670					G	74806700	C	G	74806700	3	3	72	1	0	0	0	0	1	0	0	0	11398	913	32	5	651	5	P4HA1	10	74806700	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	42663580	74806700	60728047	55	8956											
GRID1	2894	broad.mit.edu	37	chr10	87628834	87628834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcggtggttgttcctcGtgcatttctgattgtccttt	11	8	1	2	rs143353694		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:87628834G>A	ENST00000327946.7	-	6	969	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	295					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTTGTTCCTCGTGCATTTCTG	0.572										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(883-885)aCg>aTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	A	MET/THR	0,4406		0,0,2203	211	160	177		884	4.6	1	10	dbSNP_134	177	3,8597	819.1+/-406.8	0,3,4297	yes	missense	GRID1	NM_017551.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	295/1010	87628834	3,13003	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628834G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.884C>T	10.37:g.87628834G>A	ENSP00000330148:p.Thr295Met	Multiple Myeloma(13;0.14)					p.T295M	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			6	969	-			295					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.884C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117851	0.37339	0.0	3.49E-4	ENSG00000182771	ENST00000327946	D	0.82526	-1.62	5.71	4.58	0.56647	Extracellular ligand-binding receptor (1);	0.283290	0.48286	N	0.000183	T	0.50769	0.1635	N	0.00436	-1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44697	-0.9311	10	0.15066	T	0.55	.	8.8037	0.34925	0.8007:0.0:0.1993:0.0	.	295	Q9ULK0	GRID1_HUMAN	M	295	ENSP00000330148:T295M	ENSP00000330148:T295M	T	-	2	0	GRID1	87618814	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.464000	0.60134	0.991000	0.38814	-0.254000	0.11334	ACG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		90	370	0	0	0	1	0	90	370					A	87628834	G	A	87628834	3	1	72	1	0	0	0	0	1	0	0	0	6801	1145	40	1	2189	1	GRID1	10	87628834	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	12822134	87628834	47905913	56	8957											
TLL2	7093	broad.mit.edu	37	chr10	98145915	98145915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgggatactccttcGgccacccagggctggtgatg	14	10	0	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:98145915G>A	ENST00000357947.3	-	15	2135	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	637	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATACTCCTTCGGCCACCCAGG	0.532																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1909-1911)cCg>cTg		tolloid-like 2							113	109	110					10																	98145915		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98145915G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1910C>T	10.37:g.98145915G>A	ENSP00000350630:p.Pro637Leu						p.P637L	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	15	2135	-		Colorectal(252;0.0846)	637			CUB 3.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1910C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175833	0.94807	.	.	ENSG00000095587	ENST00000357947	T	0.53206	0.63	4.98	4.98	0.66077	CUB (5);	0.000000	0.45361	D	0.000367	T	0.78578	0.4305	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84878	0.0829	10	0.72032	D	0.01	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	637	Q9Y6L7	TLL2_HUMAN	L	637	ENSP00000350630:P637L	ENSP00000350630:P637L	P	-	2	0	TLL2	98135905	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	9.601000	0.98297	2.761000	0.94854	0.585000	0.79938	CCG		0.532	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			85	515	0	0	0	1	0	85	515					A	98145915	G	A	98145915	3	1	72	1	0	0	0	0	1	0	0	0	15998	1116	39	1	1165	1	TLL2	10	98145915	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	10517081	98145915	37388832	57	8958											
PSD	5662	broad.mit.edu	37	chr10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaggggcaagtggggCgggagctggtgggtcgggcc	22	7	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1375-1377)Gcc>Acc		pleckstrin and Sec7 domain containing							36	44	42					10																	104173704		2203	4298	6501	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173704C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1375G>A	10.37:g.104173704C>T	ENSP00000020673:p.Ala459Thr					PSD_ENST00000406432.1_Missense_Mutation_p.A459T	p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1901	-			459			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1375G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			74	326	0	0	0	1	0	74	326					T	104173704	C	T	104173704	3	4	72	1	0	0	0	0	1	0	0	0	12693	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	6027789	104173704	31361043	58	8959											
SLC22A24	283238	broad.mit.edu	37	chr11	62911079	62911079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggtatcattgtcagacacaGtgtcattgtccaggaggggg	14	8	3	1	rs1939748	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:62911079G>C	ENST00000417740.1	-	1	614	c.173C>G	c.(172-174)aCt>aGt	p.T58S	SLC22A24_ENST00000326192.5_Missense_Mutation_p.T58S|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	58					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GTCAGACACAGTGTCATTGTC	0.517													G|||	3776	0.753994	0.4766	0.8559	5008	,	,		20158	0.8899		0.825	False		,,,				2504	0.8436					ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(172-174)aCt>aGt		solute carrier family 22, member 24		G	SER/THR	717,667		187,343,162	115	114	114		173	2.3	0.7	11	dbSNP_92	114	2635,547		1090,455,46	yes	missense	SLC22A24	NM_001136506.2	58	1277,798,208	CC,CG,GG		17.1904,48.1936,26.5878	probably-damaging	58/553	62911079	3352,1214	692	1591	2283	SO:0001583	missense	283238							g.chr11:62911079G>C		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.173C>G	11.37:g.62911079G>C	ENSP00000396586:p.Thr58Ser					SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.T58S	p.T58S	NM_001136506.2	NP_001129978.2					1	614	-									Missense_Mutation	SNP	ENST00000417740.1	37	c.173C>G		1714	0.7847985347985348	257	0.5223577235772358	302	0.8342541436464088	524	0.916083916083916	631	0.8324538258575198	G	11.42	1.634062	0.29068	0.518064	0.828096	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.36340	1.26;1.26	2.29	2.29	0.28610	.	0.331051	0.28409	U	0.015455	T	0.00012	0.0000	.	.	.	0.47441	P	5.800000000000249E-4	D	0.89917	1.0	D	0.91635	0.999	T	0.07195	-1.0785	8	0.35671	T	0.21	.	10.3962	0.44203	0.0:0.0:1.0:0.0	rs1939748;rs17157837;rs17846086;rs17859088;rs52834485;rs1939748	58	C9JC66	.	S	58	ENSP00000396586:T58S;ENSP00000321549:T58S	ENSP00000321549:T58S	T	-	2	0	SLC22A24	62667655	0.246000	0.23909	0.709000	0.30452	0.778000	0.44026	0.469000	0.22067	1.314000	0.45095	0.383000	0.25322	ACT		0.517	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		6	180	0	0	0	1	0	6	180					C	62911079	G	C	62911079	3	2	72	1	0	0	0	0	1	0	0	0	14503	1029	36	5	1520	5	SLC22A24	11	62911079	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		62911079	72095437	59	8960											
SYTL2	54843	broad.mit.edu	37	chr11	85437269	85437269	+	Intron	DEL	T	T	-													atttcctctcttgccataacTttttttgggcttagaagcac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:85437269delT	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.K601fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCCATAACTTTTTTTGGGC	0.373																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1801-1803)aafs		synaptotagmin-like 2							185	180	182					11																	85437269		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85437269delT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1669A>-	11.37:g.85437269delT						SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs	p.K601fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	1802	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	113			Ser-rich.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	ENST00000528231.1	37	c.1803delA	CCDS53688.1																																																																																				0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		7	807						7	807	---	---	---	---	-	85437269	T	-	85437269	6	5	72	0	1	1	0	1	0	0	0	0	15535	1606	56	0		0	SYTL2	11	85437269	Intron	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	22526190	85437269	49569247	60	8961											
GLB1L2	89944	broad.mit.edu	37	chr11	134244879	134244879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtcatcgtttttgAggagacgatggcgggccctg	14	10	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:134244879A>C	ENST00000535456.2	+	19	2026	c.1838A>C	c.(1837-1839)gAg>gCg	p.E613A	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	613					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			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)		ATCGTTTTTGAGGAGACGATG	0.627																																						ENST00000535456.2																			0				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						c.(1837-1839)gAg>gCg		galactosidase, beta 1-like 2							49	43	45					11																	134244879		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244879A>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.1838A>C	11.37:g.134244879A>C	ENSP00000444628:p.Glu613Ala					GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A	p.E613A	NM_138342.3	NP_612351.2	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)	19	2026	+	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)	613					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1838A>C	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.280796|3.280796	0.59758|0.59758	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.95001|.	-3.58;-3.58;-3.58|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Galactose-binding domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86497|.	0.5947|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70016|.	0.967|.	D|.	0.90373|.	0.4382|.	10|.	0.87932|.	D|.	0|.	-36.4735|-36.4735	13.8558|13.8558	0.63527|0.63527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	613|.	Q8IW92|.	GLBL2_HUMAN|.	A|C	613|551	ENSP00000344659:E613A;ENSP00000444628:E613A;ENSP00000374531:E613A|.	ENSP00000344659:E613A|.	E|X	+|+	2|3	0|0	GLB1L2|GLB1L2	133750089|133750089	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.192000|0.192000	0.23643|0.23643	6.939000|6.939000	0.75911|0.75911	2.001000|2.001000	0.58596|0.58596	0.482000|0.482000	0.46254|0.46254	GAG|TGA		0.627	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		21	103	0	0	0	1	0	21	103					C	134244879	A	C	134244879	3	2	72	1	0	0	0	0	1	0	0	0	6458	304	11	4	1912	4	GLB1L2	11	134244879	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	48807610	134244879	761637	61	8962											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		43	101	0	0	0	1	0	43	101					T	25398284	C	T	25398284	3	4	72	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		25398284	108453611	62	8963											
MDM2	4193	broad.mit.edu	37	chr12	69218184	69218184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtgagtgagaacaggtgtCaccttgaaggtgggagtgat	16	5	1	4			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:69218184C>G	ENST00000350057.5	+	4	307	c.307C>G	c.(307-309)Cac>Gac	p.H103D	MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.H134D|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	128	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAACAGGTGTCACCTTGAAGG	0.423			A		"sarcoma, glioma, colorectal, other"																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(400-402)Cac>Gac		MDM2 oncogene, E3 ubiquitin protein ligase							95	91	92					12																	69218184		1835	4089	5924	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69218184C>G		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.307C>G	12.37:g.69218184C>G	ENSP00000266624:p.His103Asp					MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.H103D|MDM2_ENST00000348801.2_Intron	p.H134D	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		6	702	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		128					A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.400C>G		.	.	.	.	.	.	.	.	.	.	C	0.304	-0.971751	0.02215	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000311440;ENST00000311420;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T	0.43688	1.54;0.94;1.54	5.65	3.79	0.43588	.	0.565311	0.20923	N	0.083253	T	0.20455	0.0492	N	0.08118	0	0.26660	N	0.971938	B;B;B;B	0.19331	0.0;0.023;0.035;0.0	B;B;B;B	0.14023	0.001;0.01;0.009;0.001	T	0.17258	-1.0375	9	.	.	.	-9.2634	8.905	0.35519	0.1483:0.7763:0.0:0.0755	.	83;128;128;134	Q00987-9;Q00987;Q8NDW2;Q00987-11	.;MDM2_HUMAN;.;.	D	134;83;128;89;128;128;159;103	ENSP00000417281:H134D;ENSP00000444430:H128D;ENSP00000266624:H103D	.	H	+	1	0	MDM2	67504451	0.104000	0.21937	0.032000	0.17829	0.219000	0.24729	1.031000	0.30165	0.833000	0.34828	0.585000	0.79938	CAC		0.423	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		44	247	0	0	0	1	0	44	247					G	69218184	C	G	69218184	3	3	72	1	0	0	0	0	1	0	0	0	9454	826	29	5	422	5	MDM2	12	69218184	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	43819900	69218184	64633711	63	8964											
RSRC2	65117	broad.mit.edu	37	chr12	122999745	122999745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaacttctgctaaatcttCtcggcttttcaattctcttc	3	11	5	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122999745C>T	ENST00000331738.7	-	6	777	c.632G>A	c.(631-633)aGa>aAa	p.R211K	RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K|RSRC2_ENST00000392442.2_5'Flank	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	211							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTAAATCTTCTCGGCTTTTC	0.378																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(631-633)aGa>aAa		arginine/serine-rich coiled-coil 2							212	205	208					12																	122999745		2203	4300	6503	SO:0001583	missense	65117							g.chr12:122999745C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.632G>A	12.37:g.122999745C>T	ENSP00000330188:p.Arg211Lys					RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K	p.R211K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	6	777	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		211					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.632G>A	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802748	0.70682	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.23950	2.35;1.88;1.88	5.63	5.63	0.86233	.	0.144353	0.64402	D	0.000005	T	0.21590	0.0520	L	0.27053	0.805	0.39090	D	0.961074	P;B;P;B	0.40834	0.73;0.397;0.73;0.397	B;B;B;B	0.38755	0.281;0.173;0.281;0.173	T	0.02909	-1.1095	10	0.20519	T	0.43	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	211;163;211;152	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	K	211;163;211;152	ENSP00000330188:R211K;ENSP00000346678:R163K;ENSP00000343315:R152K	ENSP00000330188:R211K	R	-	2	0	RSRC2	121565698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.692000	0.54727	2.814000	0.96858	0.655000	0.94253	AGA		0.378	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		70	333	0	0	0	1	0	70	333					T	122999745	C	T	122999745	3	4	72	1	0	0	0	0	1	0	0	0	13765	913	32	2	692	2	RSRC2	12	122999745	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	53781561	122999745	10852150	64	8965											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	578						8	578	---	---	---	---	-	20426145	CAT	-	20426143	7	5	72	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-HZ-A49I-01A-12D-A26I-08		20426143	94743735	65	8966											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-													gatgaaacatcttataaaggAaaaaaaataccgaaagacca					rs80359307|rs80359309		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30	32	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		8	386						8	386	---	---	---	---	-	32907421	A	-	32907421	7	5	72	1	0	1	0	1	0	0	0	0	1503	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-HZ-A49I-01A-12D-A26I-08	12481278	32907421	82262457	66	8967											
GPR183	1880	broad.mit.edu	37	chr13	99947840	99947840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatttagtttcttcaAagtttggatactccatgcat	8	6	2	1	rs576971706		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:99947840A>G	ENST00000376414.4	-	2	643	c.560T>C	c.(559-561)tTt>tCt	p.F187S	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	187					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGTTTCTTCAAAGTTTGGATA	0.413													A|||	1	0.000199681	0.0	0.0	5008	,	,		20688	0.0		0.0	False		,,,				2504	0.001					ENST00000376414.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						c.(559-561)tTt>tCt		G protein-coupled receptor 183							92	87	89					13																	99947840		2203	4300	6503	SO:0001583	missense	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99947840A>G	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.560T>C	13.37:g.99947840A>G	ENSP00000365596:p.Phe187Ser					UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	p.F187S	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN			2	643	-			187					B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	c.560T>C	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213653	0.79352	.	.	ENSG00000169508	ENST00000376414	T	0.38401	1.14	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.053527	0.85682	D	0.000000	T	0.54111	0.1838	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.50189	-0.8857	9	.	.	.	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	187	P32249	GP183_HUMAN	S	187	ENSP00000365596:F187S	.	F	-	2	0	GPR183	98745841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.962000	0.93254	2.191000	0.70037	0.533000	0.62120	TTT		0.413	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		88	416	0	0	0	1	0	88	416					G	99947840	A	G	99947840	3	3	72	1	0	0	0	0	1	0	0	0	6707	14	1	4	529	4	GPR183	13	99947840	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	67040419	99947840	15222038	67	8968											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	514						8	514	---	---	---	---	T	39746243	-	T	39746242	7	5	72	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08		39746242	67603298	68	8969											
SERPINA6	866	broad.mit.edu	37	chr14	94780770	94780770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacagcatagctaaggcCatggagatgctcacagggga	15	8	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94780770C>T	ENST00000341584.3	-	2	362	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	72					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)			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)	TAGCTAAGGCCATGGAGATGC	0.547																																						ENST00000341584.3																			0				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						c.(214-216)atG>atA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	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)						84	85	85					14																	94780770		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780770C>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.216G>A	14.37:g.94780770C>T	ENSP00000342850:p.Met72Ile						p.M72I	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	362	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	72					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.216G>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920648	0.17982	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.87103	-2.21;-1.55	5.07	-2.48	0.06423	Serpin domain (3);	0.436617	0.21388	N	0.075360	T	0.72961	0.3526	L	0.38649	1.16	0.27668	N	0.946854	B	0.10296	0.003	B	0.14023	0.01	T	0.57551	-0.7792	10	0.09590	T	0.72	.	5.0497	0.14501	0.4235:0.254:0.0:0.3226	.	72	P08185	CBG_HUMAN	I	72	ENSP00000342850:M72I;ENSP00000452018:M72I	ENSP00000342850:M72I	M	-	3	0	SERPINA6	93850523	0.158000	0.22850	0.484000	0.27391	0.982000	0.71751	-0.421000	0.07053	-0.761000	0.04670	0.563000	0.77884	ATG		0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		61	257	0	0	0	1	0	61	257					T	94780770	C	T	94780770	3	4	72	1	0	0	0	0	1	0	0	0	14143	594	21	2	1017	2	SERPINA6	14	94780770	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	55034528	94780770	12568770	69	8970											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	873						12	873	---	---	---	---	-	31196894	A	-	31196894	7	5	72	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-HZ-A49I-01A-12D-A26I-08		31196894	71334498	70	8971											
C16orf79	283870	broad.mit.edu	37	chr16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-													acccccacagcggccagcacCagcagcagcagcagcaggag					rs371145262		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.66	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		9	251						9	251	---	---	---	---	-	2260588	CAG	-	2260586	7	5	72	1	0	1	0	1	0	0	0	0	1841	581	21	0	589	0	C16orf79	16	2260586	In_Frame_Del	DEL	CAG	TCGA-HZ-A49I-01A-12D-A26I-08		2260586	88094167	71	8972											
NLRC3	197358	broad.mit.edu	37	chr16	3607671	3607671	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttactgatctggttctcCgccaagctgcccaaggaaag	10	11	2	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:3607671C>T	ENST00000301749.7	-	0	2427				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTGGTTCTCCGCCAAGCTGC	0.527																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							73	71	71					16																	3607671		2008	4170	6178			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3607671C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3607671C>T						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2427	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.527	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		20	110	0	0	0	1	0	20	110					T	3607671	C	T	3607671	1	4	72	0	1	0	0	0	0	0	0	0	10510	639	23	1		1	NLRC3	16	3607671	RNA	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	1347085	3607671	86747082	72	8973											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		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.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	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.chr16:51175656_51175658delGCT	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.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		10	331						10	331	---	---	---	---	-	51175658	GCT	-	51175656	7	5	72	1	0	1	0	1	0	0	0	0	13860	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-HZ-A49I-01A-12D-A26I-08	47567985	51175656	39179097	73	8974											
ZFHX3	463	broad.mit.edu	37	chr16	72822009	72822011	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgcacttttTgctgctgctgctgctgtagt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822009_72822011delTGC	ENST00000268489.5	-	10	10836_10838	c.10164_10166delGCA	c.(10162-10167)cagcaa>caa	p.3388_3389QQ>Q	ZFHX3_ENST00000397992.5_In_Frame_Del_p.2474_2475QQ>Q|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3388	Poly-Gln.				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)			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)				ctgcactttttgctgctgctgct	0.591																																						ENST00000268489.5																			0				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						c.(10162-10167)caa>ca		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	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.chr16:72822009_72822011delTGC	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.10164_10166delGCA	16.37:g.72822018_72822020delTGC	ENSP00000268489:p.Gln3389del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2474del	p.QQ3388del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10836_10838	-		Ovarian(137;0.13)	3388			Poly-Gln.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10164_10166delGCA	CCDS10908.1																																																																																				0.591	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	289						8	289	---	---	---	---	-	72822011	TGC	-	72822009	7	5	72	1	0	1	0	1	0	0	0	0	17687	1812	63	0	949	0	ZFHX3	16	72822009	In_Frame_Del	DEL	TGC	TCGA-HZ-A49I-01A-12D-A26I-08	21646353	72822009	17532744	74	8975											
ZFHX3	463	broad.mit.edu	37	chr16	72822586	72822586	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctgctgctgctgctGggggggttgctgagggccca							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822586delG	ENST00000268489.5	-	10	10261	c.9589delC	c.(9589-9591)cagfs	p.Q3204fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3204	Poly-Gln.				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)			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)				tgctgctgctgGGGGGGTTGC	0.657																																						ENST00000268489.5																			0				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						c.(9589-9591)agfs		zinc finger homeobox 3							54	64	61					16																	72822586		2196	4296	6492	SO:0001589	frameshift_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.chr16:72822586delG	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.9589delC	16.37:g.72822586delG	ENSP00000268489:p.Gln3204fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs	p.Q3204fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10261	-		Ovarian(137;0.13)	3204			Poly-Gln.		D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.9589delC	CCDS10908.1																																																																																				0.657	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	950						8	950	---	---	---	---	-	72822586	G	-	72822586	7	5	72	1	0	1	0	1	0	0	0	0	17687	1357	47	0	1526	0	ZFHX3	16	72822586	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08	577	72822586	17532167	75	8976											
TP53	7157	broad.mit.edu	37	chr17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgggcctccggttcAtgccgcccatgcaggaactg	14	12	1	1	rs587780074|rs397516437		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:7577544A>C	ENST00000269305.4	-	7	926	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000420246.2_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M246R	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in 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.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CCTCCGGTTCATGCCGCCCAT	0.572		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)	ENST00000420246.2		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"		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	breast(10)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(6)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|skin(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|lung(1)|autonomic_ganglia(1)|pancreas(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						c.(736-738)aTg>aGg	Other conserved DNA damage response genes	tumor protein p53							152	113	126					17																	7577544		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577544A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.737T>G	17.37:g.7577544A>C	ENSP00000269305:p.Met246Arg	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_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000269305.4_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R	p.M246R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	869	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.737T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177746	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	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	0.99736	0.9896	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.96;1.0;1.0;0.998	D	0.97237	0.9888	10	0.87932	D	0	-28.5667	12.3101	0.54924	1.0:0.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246R;ENSP00000352610:M246R;ENSP00000269305:M246R;ENSP00000398846:M246R;ENSP00000391127:M246R;ENSP00000391478:M246R;ENSP00000425104:M114R;ENSP00000423862:M153R	ENSP00000269305:M246R	M	-	2	0	TP53	7518269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	215	0	0	0	1	0	38	215					C	7577544	A	C	7577544	3	2	72	1	0	0	0	0	1	0	0	0	16434	217	8	4	553	4	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		7577544	73617666	76	8977											
SPAG9	9043	broad.mit.edu	37	chr17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-													ccactcgggtctgtaagtccTttttttcctgttcttgagag							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)aagfs	p.K115fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(343-345)agfs		sperm associated antigen 9							133	131	132					17																	49157025		2203	4299	6502	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49157025delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.344delA	17.37:g.49157025delT	ENSP00000262013:p.Lys115fs					RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs	p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		2	552	-			115					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.344delA	CCDS45740.1																																																																																				0.313	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		7	811						7	811	---	---	---	---	-	49157025	T	-	49157025	7	5	72	1	0	1	0	1	0	0	0	0	15037	1609	56	0	3737	0	SPAG9	17	49157025	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	41579481	49157025	32038185	77	8978											
CASKIN2	57513	broad.mit.edu	37	chr17	73497867	73497867	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcccctcttacctgctccGggcaccttgaggagggcagc	11	17	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:73497867G>T	ENST00000321617.3	-	18	3874	c.3288C>A	c.(3286-3288)ccC>ccA	p.P1096P	CASKIN2_ENST00000433559.2_Silent_p.P1014P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1096	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCTGCTCCGGGCACCTTGA	0.637																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3286-3288)ccC>ccA		CASK interacting protein 2							42	54	50					17																	73497867		2194	4266	6460	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73497867G>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3288C>A	17.37:g.73497867G>T						CASKIN2_ENST00000433559.2_Silent_p.P1014P	p.P1096P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3874	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1096			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.3288C>A	CCDS11723.1																																																																																				0.637	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		15	703	1	0	2.35188e-11	1	2.51818e-11	15	703					T	73497867	G	T	73497867	2	4	72	1	0	0	0	0	0	0	0	1	2674	1103	39	3		3	CASKIN2	17	73497867	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	24340842	73497867	7697343	78	8979											
TCF4	6925	broad.mit.edu	37	chr18	52924608	52924608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctccatttctagaccAaacagctgtgcctgctgata	7	13	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:52924608A>G	ENST00000356073.4	-	14	1695	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000354452.3_Missense_Mutation_p.W362R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	362					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCTAGACCAAACAGCTGTG	0.408																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1084-1086)Tgg>Cgg		transcription factor 4							182	165	170					18																	52924608		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52924608A>G	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1084T>C	18.37:g.52924608A>G	ENSP00000348374:p.Trp362Arg					TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R	p.W362R	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	14	1695	-			362					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1084T>C	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446962	0.84101	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;0.999	D	0.84986	0.0891	10	0.72032	D	0.01	-8.4202	15.2952	0.73898	1.0:0.0:0.0:0.0	.	338;362;202;464;362;320;291;202;359	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	R	362;202;362;320;338;338;291;232;464	ENSP00000346440:W362R;ENSP00000409447:W202R;ENSP00000348374:W362R;ENSP00000439656:W320R;ENSP00000445202:W338R;ENSP00000440731:W338R;ENSP00000441562:W291R;ENSP00000439827:W232R;ENSP00000381382:W464R	ENSP00000346440:W362R	W	-	1	0	TCF4	51075606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.685000	0.91246	2.246000	0.74042	0.533000	0.62120	TGG		0.408	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		16	609	0	0	0	1	0	16	609					G	52924608	A	G	52924608	3	3	72	1	0	0	0	0	1	0	0	0	15747	130	5	4	955	4	TCF4	18	52924608	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		52924608	25152640	79	8980											
ZNF532	55205	broad.mit.edu	37	chr18	56585592	56585592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacatcccagatatggtcGatcctaaagcagctattgag	9	9	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:56585592G>A	ENST00000336078.4	+	4	849	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGATATGGTCGATCCTAAAGC	0.468																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(73-75)Gat>Aat		zinc finger protein 532							94	80	85					18																	56585592		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585592G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.73G>A	18.37:g.56585592G>A	ENSP00000338217:p.Asp25Asn					ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N	p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	849	+			25					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.73G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584685	0.96578	.	.	ENSG00000074657	ENST00000336078	T	0.07688	3.17	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07424	-1.0773	10	0.87932	D	0	-18.7627	18.9367	0.92589	0.0:0.0:1.0:0.0	.	25	Q9HCE3	ZN532_HUMAN	N	25	ENSP00000338217:D25N	ENSP00000338217:D25N	D	+	1	0	ZNF532	54736572	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	9.403000	0.97302	2.560000	0.86352	0.555000	0.69702	GAT		0.468	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		70	282	0	0	0	1	0	70	282					A	56585592	G	A	56585592	3	1	72	1	0	0	0	0	1	0	0	0	18025	1058	37	1	75	1	ZNF532	18	56585592	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	3660984	56585592	21491656	80	8981											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-													tgggcttctctttgtgggccTtttccctgggaacagaccga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)aagfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(88-90)agfs		UBX domain protein 6							102	115	111					19																	4454085		2203	4300	6503	SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454085delT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.89delA	19.37:g.4454085delT	ENSP00000301281:p.Lys30fs					UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	p.K30fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	213	-			30					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Del	DEL	ENST00000301281.6	37	c.89delA	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	1232						8	1232	---	---	---	---	-	4454085	T	-	4454085	7	5	72	1	0	1	0	1	0	0	0	0	16971	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08		4454085	54674898	81	8982											
CLEC4G	339390	broad.mit.edu	37	chr19	7796974	7796974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgccccacttgctgtaCctggtggtgtccatggcgat	12	14	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:7796974C>T	ENST00000328853.5	-	1	83	c.15G>A	c.(13-15)agG>agA	p.R5R	CLEC4G_ENST00000598081.1_Splice_Site	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	5						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTTGCTGTACCTGGTGGTGT	0.612																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000598081.1																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.e1+1		C-type lectin domain family 4, member G							58	53	55					19																	7796974		2203	4300	6503	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7796974C>T	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.15G>A	19.37:g.7796974C>T						CLEC4G_ENST00000328853.5_Silent_p.R5R				Q6UXB4	CLC4G_HUMAN			1	117	-									Splice_Site	SNP	ENST00000328853.5	37		CCDS12185.1																																																																																				0.612	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		49	256	0	0	0	1	0	49	256					T	7796974	C	T	7796974	2	4	72	1	0	0	0	0	0	0	0	1	3526	506	18	2		2	CLEC4G	19	7796974	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	3342889	7796974	51332009	82	8983											
FAM129C	199786	broad.mit.edu	37	chr19	17660273	17660273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgaaaaagacccttggtGccaatgatgtatcctgcact	8	9	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:17660273G>T	ENST00000335393.4	+	15	1918	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	594										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GACCCTTGGTGCCAATGATGT	0.527																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1780-1782)Gcc>Tcc		family with sequence similarity 129, member C							130	124	126					19																	17660273		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17660273G>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1780G>T	19.37:g.17660273G>T	ENSP00000335040:p.Ala594Ser					FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S	p.A594S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			15	1918	+			594					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1780G>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719856	0.30503	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000449408	T;T;T;T	0.46819	1.8;1.82;0.86;1.43	2.87	0.639	0.17747	.	0.762112	0.11046	N	0.605581	T	0.38904	0.1058	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.36909	0.573;0.573;0.573;0.573	B;B;B;B	0.38378	0.272;0.272;0.272;0.272	T	0.25187	-1.0139	10	0.11182	T	0.66	-4.5539	5.3444	0.16000	0.2787:0.0:0.7213:0.0	.	594;594;558;594	Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	NIBL2_HUMAN;.;.;.	S	594;594;558;320	ENSP00000335040:A594S;ENSP00000333447:A594S;ENSP00000341067:A558S;ENSP00000394929:A320S	ENSP00000333447:A594S	A	+	1	0	FAM129C	17521273	0.005000	0.15991	0.002000	0.10522	0.082000	0.17680	0.151000	0.16283	0.270000	0.21984	0.557000	0.71058	GCC		0.527	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		106	721	1	0	4.07119e-57	1	4.69072e-57	106	721					T	17660273	G	T	17660273	3	4	72	1	0	0	0	0	1	0	0	0	5459	1319	46	3	1838	3	FAM129C	19	17660273	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	9863299	17660273	41468710	83	8984											
FPR3	2359	broad.mit.edu	37	chr19	52327875	52327875	+	Frame_Shift_Del	DEL	T	T	-													acccaacaagctccttggccTtttttaacagctgcctcaac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:52327875delT	ENST00000339223.4	+	2	1053	c.874delT	c.(874-876)tttfs	p.F293fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	293					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCCTTGGCCTTTTTTAACAG	0.428																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(874-876)ttfs		formyl peptide receptor 3							161	158	159					19																	52327875		2203	4300	6503	SO:0001589	frameshift_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327875delT		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.874delT	19.37:g.52327875delT	ENSP00000341821:p.Phe293fs					FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs	p.F293fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1053	+			293						Frame_Shift_Del	DEL	ENST00000339223.4	37	c.874delT	CCDS12841.1																																																																																				0.428	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		8	989						8	989	---	---	---	---	-	52327875	T	-	52327875	7	5	72	1	0	1	0	1	0	0	0	0	6067	1609	56	0	876	0	FPR3	19	52327875	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	34667602	52327875	6801108	84	8985											
ZNF611	81856	broad.mit.edu	37	chr19	53208246	53208247	+	Frame_Shift_Ins	INS	-	-	A													gaaaggtgtgattgttgattINSaaaagccttcccacattcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:53208246_53208247insA	ENST00000319783.1	-	7	2377_2378	c.2061_2062insT	c.(2059-2064)tttaatfs	p.N688fs	ZNF611_ENST00000453741.2_Frame_Shift_Ins_p.N619fs|ZNF611_ENST00000602162.1_Frame_Shift_Ins_p.N619fs|ZNF611_ENST00000540744.1_Frame_Shift_Ins_p.N688fs|ZNF611_ENST00000595798.1_Frame_Shift_Ins_p.N619fs|ZNF611_ENST00000543227.1_Frame_Shift_Ins_p.N688fs	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GATTGTTGATTAAAAGCCTTCC	0.391																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2059-2064)ttatcafs		zinc finger protein 611																																				SO:0001589	frameshift_variant	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208246_53208247insA	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.2062dupT	19.37:g.53208250_53208250dupA	ENSP00000322427:p.Asn688fs					ZNF611_ENST00000319783.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000540744.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000595798.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000602162.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000453741.2_Frame_Shift_Ins_p.LS618fs	p.LS687fs	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2335_2336	-			687					B3KRD5|Q69YG9	Frame_Shift_Ins	INS	ENST00000319783.1	37	c.2061_2062insT	CCDS12855.1																																																																																				0.391	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		140	568						140	568	---	---	---	---	A	53208247	-	A	53208246	7	5	72	1	0	1	1	0	0	0	0	0	18090	1754	61	0	59	0	ZNF611	19	53208246	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08	880371	53208246	5920737	85	8986											
NLRP2	55655	broad.mit.edu	37	chr19	55501388	55501388	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcctatttctcccacAggttggtgtcttgttccgct	10	12	2	0	rs202152161	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTCCCACAGGTTGGTGTC	0.517													A|||	2	0.000399361	0.0	0.0	5008	,	,		17714	0.0		0.002	False		,,,				2504	0.0					ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.e9-1		NLR family, pyrin domain containing 2							87	79	82					19																	55501388		2203	4300	6503	SO:0001630	splice_region_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501388A>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2367-1A>G	19.37:g.55501388A>G						NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site		NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2509	+								B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Splice_Site	SNP	ENST00000543010.1	37		CCDS12913.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	8.379	0.836995	0.16891	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.37549	D	0.918615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9916	0.24758	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP2	60193200	0.776000	0.28616	0.108000	0.21378	0.127000	0.20565	3.149000	0.50655	1.407000	0.46875	0.529000	0.55759	.		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	Intron	52	291	0	0	0	1	0	52	291					G	55501388	A	G	55501388	5	3	72	1	0	0	0	0	0	0	1	0	10519	202	7	4	2395	4	NLRP2	19	55501388	Splice_Site	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	2293142	55501388	3627595	86	8987											
KIAA1755	85449	broad.mit.edu	37	chr20	36855620	36855620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggaagagaatagccCggatagaggctgggacctga	14	11	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36855620C>T	ENST00000279024.4	-	7	2259	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	663										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGAATAGCCCGGATAGAGGC	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1987-1989)cGg>cAg		KIAA1755							47	43	44					20																	36855620		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36855620C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1988G>A	20.37:g.36855620C>T	ENSP00000279024:p.Arg663Gln						p.R663Q	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			7	2259	-		Myeloproliferative disorder(115;0.00874)	663					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1988G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474685	0.26511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.61158	0.13;1.2	4.53	0.919	0.19392	.	0.986535	0.08237	N	0.976570	T	0.36552	0.0971	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.21211	-1.0252	10	0.19590	T	0.45	.	6.2707	0.20953	0.0:0.4404:0.0:0.5596	.	663	Q5JYT7	K1755_HUMAN	Q	663;210;1	ENSP00000279024:R663Q;ENSP00000393503:R1Q	ENSP00000279024:R663Q	R	-	2	0	KIAA1755	36289034	0.204000	0.23447	0.000000	0.03702	0.000000	0.00434	1.432000	0.34936	0.215000	0.20761	-0.808000	0.03180	CGG		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		21	139	0	0	0	1	0	21	139					T	36855620	C	T	36855620	3	4	72	1	0	0	0	0	1	0	0	0	8287	652	23	1	1646	1	KIAA1755	20	36855620	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		36855620	26169900	87	8988											
KIAA1755	85449	broad.mit.edu	37	chr20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaccagaagcaggggcCgcccggccctgtcccggcca	13	17	0	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1768-1770)cGg>cAg		KIAA1755							46	44	44					20																	36859706		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36859706C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1769G>A	20.37:g.36859706C>T	ENSP00000279024:p.Arg590Gln						p.R590Q	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			5	2040	-		Myeloproliferative disorder(115;0.00874)	590					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1769G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG		0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		23	85	0	0	0	1	0	23	85					T	36859706	C	T	36859706	3	4	72	1	0	0	0	0	1	0	0	0	8287	652	23	1	1873	1	KIAA1755	20	36859706	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	4086	36859706	26165814	88	8989											
RTEL1	51750	broad.mit.edu	37	chr20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgtcatcctggggcaacGctgctgctgctgctggagac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:62292822_62292824delGCT	ENST00000360203.5	+	3	599_601	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000318100.4_In_Frame_Del_p.A96del					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(274-276)del		regulator of telomere elongation helicase 1																																				SO:0001651	inframe_deletion	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62292822_62292824delGCT	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.274_276delGCT	20.37:g.62292831_62292833delGCT	ENSP00000353332:p.Ala96del					RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR	p.A96del			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		3	1101_1103	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		96			Helicase ATP-binding.			In_Frame_Del	DEL	ENST00000360203.5	37	c.274_276delGCT																																																																																					0.645	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		7	203						7	203	---	---	---	---	-	62292824	GCT	-	62292822	7	5	72	1	0	1	0	1	0	0	0	0	13770	1087	38	0	280	0	RTEL1	20	62292822	In_Frame_Del	DEL	GCT	TCGA-HZ-A49I-01A-12D-A26I-08	25433116	62292822	732698	89	8990											
SON	6651	broad.mit.edu	37	chr21	34925124	34925124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgaaaatacttggcCtacagaggtgccatcatcac	8	11	2	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:34925124C>T	ENST00000356577.4	+	3	4062	c.3587C>T	c.(3586-3588)cCt>cTt	p.P1196L	SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1196L|SON_ENST00000300278.4_Missense_Mutation_p.P1196L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1196					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)			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						AATACTTGGCCTACAGAGGTG	0.527																																						ENST00000356577.4																			0				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						c.(3586-3588)cCt>cTt		SON DNA binding protein							116	119	118					21																	34925124		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.chr21:34925124C>T	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.3587C>T	21.37:g.34925124C>T	ENSP00000348984:p.Pro1196Leu					SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000381679.4_Missense_Mutation_p.P1196L	p.P1196L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	4062	+			1196					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3587C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840064	0.51057	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12672	2.85;2.84;2.83;2.66	5.42	5.42	0.78866	.	0.627323	0.14275	N	0.329894	T	0.15522	0.0374	L	0.40543	1.245	0.19775	N	0.999954	P;P;B;P;P	0.49253	0.804;0.872;0.015;0.804;0.921	B;B;B;B;B	0.40864	0.288;0.139;0.014;0.288;0.342	T	0.10989	-1.0606	10	0.72032	D	0.01	.	16.7237	0.85416	0.0:1.0:0.0:0.0	.	1196;1196;877;1196;1196	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	L	1196	ENSP00000348984:P1196L;ENSP00000290239:P1196L;ENSP00000300278:P1196L;ENSP00000371095:P1196L	ENSP00000290239:P1196L	P	+	2	0	SON	33846994	0.862000	0.29867	0.893000	0.35052	0.752000	0.42762	3.035000	0.49759	2.549000	0.85964	0.563000	0.77884	CCT		0.527	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		157	775	0	0	0	1	0	157	775					T	34925124	C	T	34925124	3	4	72	1	0	0	0	0	1	0	0	0	14976	681	24	2	3597	2	SON	21	34925124	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		34925124	13204771	90	8991											
BRWD1	54014	broad.mit.edu	37	chr21	40650700	40650700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacaaagcatttgaacGcctggcctaggcttttcagt	10	9	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:40650700G>A	ENST00000333229.2	-	10	1299	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000342449.3_Silent_p.G324G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(970-972)ggC>ggT		bromodomain and WD repeat domain containing 1							84	91	88					21																	40650700		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40650700G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.972C>T	21.37:g.40650700G>A						BRWD1_ENST00000333229.2_Silent_p.G324G|BRWD1_ENST00000380800.3_Silent_p.G324G	p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			10	1050	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	324					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.972C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312047	0.23821	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.1	-9.33	0.00639	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	1.5457	0.02564	0.4764:0.1997:0.1196:0.2044	.	.	.	.	C	36	.	.	R	-	1	0	BRWD1	39572570	0.000000	0.05858	0.822000	0.32727	0.997000	0.91878	-2.790000	0.00767	-1.651000	0.01504	0.591000	0.81541	CGT		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		124	553	0	0	0	1	0	124	553					A	40650700	G	A	40650700	2	1	72	1	0	0	0	0	0	0	0	1	1529	1074	38	1		1	BRWD1	21	40650700	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	5725576	40650700	7479195	91	8992											
PARVB	29780	broad.mit.edu	37	chr22	44559738	44559738	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccccttccttggcagGtccacaatgtgtccttcgcc	7	19	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000338758.7	+	12	1009	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	PARVB_ENST00000404989.1_Splice_Site_p.V279F|PARVB_ENST00000406477.3_Splice_Site_p.V349F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	316	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCCTTGGCAGGTCCACAATGT	0.622																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.e12-1		parvin, beta							128	92	104					22																	44559738		2203	4300	6503	SO:0001630	splice_region_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44559738G>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.946-1G>T	22.37:g.44559738G>T						PARVB_ENST00000404989.1_Splice_Site_p.V279_splice|PARVB_ENST00000406477.3_Splice_Site_p.V349_splice	p.V316_splice	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			12	1009	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	316			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Splice_Site	SNP	ENST00000338758.7	37	c.945_splice	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744371	0.69418	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	D;D;D	0.95307	-3.67;-3.67;-3.67	5.42	3.34	0.38264	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.88842	2.985	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;0.995;0.992	D	0.96302	0.9222	9	.	.	.	-1.022	9.6282	0.39763	0.1707:0.0:0.8293:0.0	.	316;279;316;349	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	F	349;316;279	ENSP00000384515:V349F;ENSP00000342492:V316F;ENSP00000384353:V279F	.	V	+	1	0	PARVB	42891071	1.000000	0.71417	0.993000	0.49108	0.614000	0.37383	7.331000	0.79192	0.662000	0.31006	0.491000	0.48974	GTC		0.622	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828	Missense_Mutation	8	338	1	0	0.00621372	1	0.00627289	8	338					T	44559738	G	T	44559738	5	4	72	1	0	0	0	0	0	0	1	0	11511	1275	44	3	1211	3	PARVB	22	44559738	Splice_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		44559738	6744828	92	8993											
KIAA0562	9731	broad.mit.edu	37	chr1	3742426	3742426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttccccacaaaaaatacAcaaactgaaagcaaagcaaa	3	12	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:3742426A>G	ENST00000378230.3	-	18	2584	c.2260T>C	c.(2260-2262)Tgt>Cgt	p.C754R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	754						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CAAAAAATACACAAACTGAAA	0.468																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2260-2262)Tgt>Cgt		centrosomal protein 104kDa							97	87	90					1																	3742426		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3742426A>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2260T>C	1.37:g.3742426A>G	ENSP00000367476:p.Cys754Arg						p.C754R	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			18	2584	-			754					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2260T>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668522	0.47677	.	.	ENSG00000116198	ENST00000378230	T	0.71817	-0.6	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87378	0.2355	10	0.72032	D	0.01	.	13.6283	0.62181	1.0:0.0:0.0:0.0	.	754	O60308	CE104_HUMAN	R	754	ENSP00000367476:C754R	ENSP00000367476:C754R	C	-	1	0	CEP104	3732286	1.000000	0.71417	0.155000	0.22561	0.230000	0.25150	8.875000	0.92372	1.819000	0.53055	0.533000	0.62120	TGT		0.468	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		4	299	0	0	0	1	0	4	299					G	3742426	A	G	3742426	3	3	73	1	0	0	0	0	1	0	0	0	8214	159	6	4	537	4	KIAA0562	1	3742426	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08		3742426	245508195	1	8994											
AKR7L	246181	broad.mit.edu	37	chr1	19595852	19595852	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatacttgtacttgccGgtcagcaggccccctgcggg	11	15	2	0	rs570127845		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88	89	89					1																	19595852		692	1591	2283			246181							g.chr1:19595852G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595852G>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	274	0	0	0	1	0	4	274					A	19595852	G	A	19595852	1	1	73	0	1	0	0	0	0	0	0	0	477	1103	39	1		1	AKR7L	1	19595852	RNA	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	15853426	19595852	229654769	2	8995											
HNRNPR	10236	broad.mit.edu	37	chr1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaggtgtttaccagggCgaatttcatagctgtcacac	9	11	2	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:23648137C>T	ENST00000374612.1	-	7	818	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(391-393)cGc>cAc		heterogeneous nuclear ribonucleoprotein R							112	117	115					1																	23648137		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23648137C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.695G>A	1.37:g.23648137C>T	ENSP00000363741:p.Arg232His					HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H	p.R131H	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	6	663	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	232			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.392G>A	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC		0.378	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		147	314	0	0	0	1	0	147	314					T	23648137	C	T	23648137	3	4	73	1	0	0	0	0	1	0	0	0	7302	768	27	1	1235	1	HNRNPR	1	23648137	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	4052285	23648137	225602484	3	8996											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636531	43636531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaagactgcaagcactgCggcctgggcttggcgatagc	16	10	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:43636531C>T	ENST00000236051.2	-	4	484	c.343G>A	c.(343-345)Gca>Aca	p.A115T	EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A170T|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	115					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCACTGCGGCCTGGGCT	0.507																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(508-510)Gca>Aca		EBNA1 binding protein 2							150	146	148					1																	43636531		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636531C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.343G>A	1.37:g.43636531C>T	ENSP00000236051:p.Ala115Thr					EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A115T	p.A170T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			5	656	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	115					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.508G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505573	0.44558	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.59502	0.26;0.26	5.2	3.34	0.38264	.	0.096406	0.64402	N	0.000001	T	0.58963	0.2159	M	0.81942	2.565	0.47698	D	0.99949	P;P	0.52577	0.954;0.954	P;P	0.44673	0.457;0.457	T	0.60707	-0.7210	10	0.54805	T	0.06	-1.6037	7.64	0.28288	0.133:0.7246:0.0:0.1424	.	115;115	Q6IB29;Q99848	.;EBP2_HUMAN	T	170;115	ENSP00000407323:A170T;ENSP00000236051:A115T	ENSP00000236051:A115T	A	-	1	0	EBNA1BP2	43409118	0.988000	0.35896	0.020000	0.16555	0.286000	0.27126	2.517000	0.45529	0.708000	0.31955	-0.145000	0.13849	GCA		0.507	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			5	685	0	0	0	1	0	5	685					T	43636531	C	T	43636531	3	4	73	1	0	0	0	0	1	0	0	0	4901	768	27	1	601	1	EBNA1BP2	1	43636531	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	19988394	43636531	205614090	4	8997											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		8	342						8	342	---	---	---	---	-	92447230	AGC	-	92447228	7	5	73	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-HZ-A77O-01A-11D-A33T-08	48810697	92447228	156803393	5	8998											
RBM15	64783	broad.mit.edu	37	chr1	110884183	110884183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgacaagcgagaccGtaaaaactctgcatcagctg	11	11	2	2	rs148790140		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:110884183G>A	ENST00000369784.3	+	1	3056	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	RBM15_ENST00000487146.2_Missense_Mutation_p.R719H|RBM15_ENST00000602849.1_Missense_Mutation_p.R719H|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	719	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGCGAGACCGTAAAAACTCT	0.512			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2155-2157)cGt>cAt		RNA binding motif protein 15		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	80	80		2156,2156	4.7	1	1	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense	RBM15	NM_001201545.1,NM_022768.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	719/970,719/978	110884183	1,13005	2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884183G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2156G>A	1.37:g.110884183G>A	ENSP00000358799:p.Arg719His					RBM15_ENST00000602849.1_Missense_Mutation_p.R719H|RBM15_ENST00000487146.2_Missense_Mutation_p.R719H	p.R719H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3056	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	719			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2156G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712649	0.30413	2.27E-4	0.0	ENSG00000162775	ENST00000369784	T	0.19938	2.11	4.72	4.72	0.59763	.	0.000000	0.45126	D	0.000385	T	0.07188	0.0182	N	0.24115	0.695	0.38370	D	0.944855	B;B	0.22983	0.003;0.078	B;B	0.09377	0.003;0.004	T	0.07009	-1.0795	10	0.59425	D	0.04	-8.5054	12.3211	0.54985	0.0819:0.0:0.9181:0.0	.	719;719	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	719	ENSP00000358799:R719H	ENSP00000358799:R719H	R	+	2	0	RBM15	110685706	0.933000	0.31639	1.000000	0.80357	0.997000	0.91878	1.479000	0.35453	2.461000	0.83175	0.655000	0.94253	CGT		0.512	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		5	383	0	0	0	1	0	5	383					A	110884183	G	A	110884183	3	1	73	1	0	0	0	0	1	0	0	0	13166	1145	40	1	2158	1	RBM15	1	110884183	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	18436955	110884183	138366438	6	8999											
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagagcctgaagtcttAcaggactcactggatagatg	13	7	2	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	995	0	0	0	1	0	7	995					G	148594439	A	G	148594439	2	3	73	1	0	0	0	0	0	0	0	1	10237	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	37710256	148594439	100656182	7	9000											
FLG	2312	broad.mit.edu	37	chr1	152278047	152278047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaatggtgtcctgaccGtattgggatgctgagtgcct	13	10	0	2	rs200815866	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:152278047G>A	ENST00000368799.1	-	3	9350	c.9315C>T	c.(9313-9315)taC>taT	p.Y3105Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3105	Ser-rich.		Y -> D (in dbSNP:rs2065958).		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)			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)			TGTCCTGACCGTATTGGGATG	0.602									Ichthyosis				g|||	19	0.00379393	0.0	0.0086	5008	,	,		12362	0.0079		0.001	False		,,,				2504	0.0041					ENST00000368799.1																			0				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						c.(9313-9315)taC>taT		filaggrin		C		0,3880		0,0,1940	201	257	239		9315	-8.4	0	1		239	3,8431		0,3,4214	no	coding-synonymous	FLG	NM_002016.1		0,3,6154	AA,AG,GG		0.0356,0.0,0.0244		3105/4062	152278047	3,12311	1940	4217	6157	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278047G>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.9315C>T	1.37:g.152278047G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y3105Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3105		Y -> D (in dbSNP:rs2065958).	Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.9315C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	1212	0	0	0	1	0	7	1212					A	152278047	G	A	152278047	2	1	73	1	0	0	0	0	0	0	0	1	5947	1140	40	1		1	FLG	1	152278047	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	3683608	152278047	96972574	8	9001											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167857	161167857	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatgggaccttgaccgctGgcaggactcttccggcgtag	13	13	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.5	-	1	989	c.561C>A	c.(559-561)gcC>gcA	p.A187A	ADAMTS4_ENST00000367995.3_Silent_p.A187A|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	187					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CTTGACCGCTGGCAGGACTCT	0.632																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(559-561)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 4							62	61	61					1																	161167857		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167857G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.561C>A	1.37:g.161167857G>T						ADAMTS4_ENST00000367995.3_Silent_p.A187A	p.A187A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	989	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		187					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.561C>A	CCDS1223.1																																																																																				0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		117	396	1	0	3.68091e-61	1	3.98017e-61	117	396					T	161167857	G	T	161167857	2	4	73	1	0	0	0	0	0	0	0	1	268	1335	47	3		3	ADAMTS4	1	161167857	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	8889810	161167857	88082764	9	9002											
TOMM40L	84134	broad.mit.edu	37	chr1	161198845	161198845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttcctcaatcactggcGcaacagattccattgtggct	8	13	2	1	rs368124911		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161198845G>A	ENST00000367988.3	+	10	1156	c.887G>A	c.(886-888)cGc>cAc	p.R296H	TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	296	Required for mitochondrial targeting. {ECO:0000250}.				ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATCACTGGCGCAACAGATTC	0.582																																						ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(886-888)cGc>cAc		translocase of outer mitochondrial membrane 40 homolog (yeast)-like		G	HIS/ARG	0,4406		0,0,2203	140	122	128		887	5.2	1	1		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOMM40L	NM_032174.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/309	161198845	1,13005	2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198845G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.887G>A	1.37:g.161198845G>A	ENSP00000356967:p.Arg296His					TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000474486.1_3'UTR	p.R296H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1156	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		296			Required for mitochondrial targeting (By similarity).		B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.887G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382008	0.61845	0.0	1.16E-4	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.42900	0.96;0.96;0.96	5.25	5.25	0.73442	.	0.301075	0.30920	N	0.008603	T	0.24470	0.0593	N	0.14661	0.345	0.32193	N	0.5787640000000001	D;D;D	0.54207	0.965;0.965;0.965	P;B;P	0.52881	0.712;0.285;0.712	T	0.12192	-1.0557	9	0.56958	D	0.05	-18.8218	9.9862	0.41843	0.0898:0.0:0.9102:0.0	.	262;178;296	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	296;262;198;296	ENSP00000356967:R296H;ENSP00000443233:R262H;ENSP00000356966:R296H	ENSP00000356966:R296H	R	+	2	0	TOMM40L	159465469	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.874000	0.48483	2.885000	0.99019	0.655000	0.94253	CGC		0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		6	616	0	0	0	1	0	6	616					A	161198845	G	A	161198845	3	1	73	1	0	0	0	0	1	0	0	0	16411	1087	38	1	921	1	TOMM40L	1	161198845	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	30988	161198845	88051776	10	9003											
ASPM	259266	broad.mit.edu	37	chr1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagattgaagcaccagtaccGcatgacggagttcaatatac	9	9	1	3	rs368693433		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219	213	215		,5849	5.6	0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	1.37:g.197072532G>A	ENSP00000356379:p.Ala1950Val					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A1950V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6105	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5849C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		7	1150	0	0	0	1	0	7	1150					A	197072532	G	A	197072532	3	1	73	1	0	0	0	0	1	0	0	0	1057	1087	38	1	4628	1	ASPM	1	197072532	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	35873687	197072532	52178089	11	9004											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		8	170						8	170	---	---	---	---	-	200842778	TGC	-	200842776	7	5	73	1	0	1	0	1	0	0	0	0	6712	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-HZ-A77O-01A-11D-A33T-08	3770244	200842776	48407845	12	9005											
TAF5L	27097	broad.mit.edu	37	chr1	229750171	229750171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgagtccacgtactgcCggcgtttgaggtagcaggac	13	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:229750171C>T	ENST00000366676.1	-	1	58	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000366675.3_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	20					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGTACTGCCGGCGTTTGAG	0.562																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(58-60)cGg>cAg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							110	94	100					1																	229750171		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229750171C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.59G>A	1.37:g.229750171C>T	ENSP00000355636:p.Arg20Gln					TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q	p.R20Q	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			2	147	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	20					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.59G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878785	0.97055	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.66460	-0.21;-0.21;0.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.61275	0.572;0.886	T	0.77776	-0.2461	9	.	.	.	-20.2862	20.0015	0.97412	0.0:1.0:0.0:0.0	.	20;20	O75529-2;O75529	.;TAF5L_HUMAN	Q	20	ENSP00000355636:R20Q;ENSP00000258281:R20Q;ENSP00000355635:R20Q	.	R	-	2	0	TAF5L	227816794	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	2.732000	0.93576	0.563000	0.77884	CGG		0.562	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		81	317	0	0	0	1	0	81	317					T	229750171	C	T	229750171	3	4	73	1	0	0	0	0	1	0	0	0	15581	652	23	1	1732	1	TAF5L	1	229750171	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	28907395	229750171	19500450	13	9006											
TRIM58	25893	broad.mit.edu	37	chr1	248023988	248023988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgactcaggaggccaacGtggggaaaaagactgtcatt	12	9	2	2	rs201462673		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248023988G>A	ENST00000366481.3	+	2	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	164						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V164L(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)			GGAGGCCAACGTGGGGAAAAA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19435	0.001		0.0	False		,,,				2504	0.0					ENST00000366481.3																			1	Substitution - Missense(1)	p.V164L(1)	lung(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						c.(490-492)Gtg>Atg		tripartite motif containing 58		G	MET/VAL	0,4406		0,0,2203	106	105	106		490	2.1	0.4	1		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRIM58	NM_015431.3	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	164/487	248023988	3,13003	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023988G>A	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.490G>A	1.37:g.248023988G>A	ENSP00000355437:p.Val164Met						p.V164M	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	538	+	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)	164					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.490G>A	CCDS1636.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.615	-0.289792	0.05568	0.0	3.49E-4	ENSG00000162722	ENST00000366481	T	0.61510	0.1	4.02	2.13	0.27403	.	0.287861	0.24601	N	0.037136	T	0.43055	0.1230	L	0.46157	1.445	0.23210	N	0.998114	B	0.28512	0.214	B	0.17433	0.018	T	0.32981	-0.9886	10	0.49607	T	0.09	.	5.6579	0.17652	0.1092:0.2001:0.6907:0.0	.	164	Q8NG06	TRI58_HUMAN	M	164	ENSP00000355437:V164M	ENSP00000355437:V164M	V	+	1	0	TRIM58	246090611	0.045000	0.20229	0.400000	0.26346	0.001000	0.01503	0.046000	0.14035	0.467000	0.27218	-0.150000	0.13652	GTG		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		57	197	0	0	0	1	0	57	197					A	248023988	G	A	248023988	3	1	73	1	0	0	0	0	1	0	0	0	16584	1145	40	1	496	1	TRIM58	1	248023988	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	18273817	248023988	1226633	14	9007											
OR2T4	127074	broad.mit.edu	37	chr1	248524937	248524937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcggatttcatcctgAtgggactcttcagacaatcc	10	10	3	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248524937A>T	ENST00000366475.1	+	1	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TTTCATCCTGATGGGACTCTT	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(55-57)Atg>Ttg		olfactory receptor, family 2, subfamily T, member 4							94	84	88					1																	248524937		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524937A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.55A>T	1.37:g.248524937A>T	ENSP00000355431:p.Met19Leu						p.M19L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	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)		19					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.55A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788354	0.16258	.	.	ENSG00000196944	ENST00000366475	T	0.01464	4.86	1.18	-0.177	0.13307	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48151	-0.9060	9	0.07990	T	0.79	.	3.8757	0.09056	0.685:0.0:0.315:0.0	.	19	Q8NH00	OR2T4_HUMAN	L	19	ENSP00000355431:M19L	ENSP00000355431:M19L	M	+	1	0	OR2T4	246591560	0.000000	0.05858	0.143000	0.22291	0.062000	0.15995	-0.693000	0.05121	-0.020000	0.14032	0.381000	0.24937	ATG		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		6	382	0	0	0	1	0	6	382					T	248524937	A	T	248524937	3	4	73	1	0	0	0	0	1	0	0	0	11069	333	12	5	57	5	OR2T4	1	248524937	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	500949	248524937	725684	15	9008											
CPSF3	51692	broad.mit.edu	37	chr2	9595887	9595888	+	Splice_Site	DEL	GT	GT	-													ccagctgcagaaattgacagGtgtgtgtgtgtactgaaatt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:9595887_9595888delGT	ENST00000238112.3	+	13	1809		c.e13+1		CPSF3_ENST00000460593.1_Splice_Site	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAATTGACAGGTGTGTGTGTGT	0.366																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e13+1		cleavage and polyadenylation specific factor 3, 73kDa																																				SO:0001630	splice_region_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9595887_9595888delGT	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1603+1GT>-	2.37:g.9595897_9595898delGT						CPSF3_ENST00000238112.3_Splice_Site				Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	13	2630	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)						O14769|Q53RS2|Q96F36	Splice_Site	DEL	ENST00000238112.3	37		CCDS1664.1																																																																																				0.366	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	Intron	7	304						7	304	---	---	---	---	-	9595888	GT	-	9595887	8	5	73	1	0	1	0	1	0	0	1	0	3835	1275	44	0	1654	0	CPSF3	2	9595887	Splice_Site	DEL	GT	TCGA-HZ-A77O-01A-11D-A33T-08		9595887	233603486	16	9009											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			10	486						10	486	---	---	---	---	-	26693556	CTT	-	26693554	7	5	73	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-HZ-A77O-01A-11D-A33T-08	17097667	26693554	216505819	17	9010											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	7	19	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103	111	108					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		9	1147	0	0	0	1	0	9	1147					A	27373157	G	A	27373157	3	1	73	1	0	0	0	0	1	0	0	0	15744	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	679603	27373157	215826216	18	9011											
NLRC4	58484	broad.mit.edu	37	chr2	32474685	32474685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttacaatacccggcagccGttgattctgtaggtcatgaa	9	9	2	2	rs549398450		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:32474685G>A	ENST00000404025.2	-	5	2736	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W|NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	750					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCGGCAGCCGTTGATTCTGT	0.393																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2248-2250)Cgg>Tgg		NLR family, CARD domain containing 4							197	200	199					2																	32474685		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474685G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2248C>T	2.37:g.32474685G>A	ENSP00000385090:p.Arg750Trp					NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W	p.R750W			Q9NPP4	NLRC4_HUMAN			5	2736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		750					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2248C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890014	0.33348	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.12774	2.65;2.65;2.65	3.16	3.16	0.36331	.	0.736937	0.11138	N	0.595589	T	0.13030	0.0316	L	0.44542	1.39	0.22489	N	0.999055	D	0.64830	0.994	B	0.41299	0.353	T	0.14952	-1.0454	9	0.66056	D	0.02	-2.4537	10.1027	0.42515	0.0:0.0:0.7988:0.2011	.	750	Q9NPP4	NLRC4_HUMAN	W	750	ENSP00000354159:R750W;ENSP00000385428:R750W;ENSP00000385090:R750W	ENSP00000354159:R750W	R	-	1	2	NLRC4	32328189	0.001000	0.12720	0.024000	0.17045	0.018000	0.09664	0.309000	0.19332	2.087000	0.62958	0.537000	0.68136	CGG		0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		8	1287	0	0	0	1	0	8	1287					A	32474685	G	A	32474685	3	1	73	1	0	0	0	0	1	0	0	0	10511	1144	40	1	850	1	NLRC4	2	32474685	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	5101528	32474685	210724688	19	9012											
SLC4A5	57835	broad.mit.edu	37	chr2	74479414	74479416	+	In_Frame_Del	DEL	CCA	CCA	-													tgccagccccgccgccactgCcaccaccaccaccacctcca							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:74479414_74479416delCCA	ENST00000377634.4	-	16	1767_1769	c.1368_1370delTGG	c.(1366-1371)ggtggc>ggc	p.456_457GG>G	SLC4A5_ENST00000377632.1_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000358683.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000423644.1_In_Frame_Del_p.456_457GG>G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000394019.2_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000359484.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000357822.5_In_Frame_Del_p.456_457GG>G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						gccgccactgccaccaccaccac	0.635																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1366-1371)ggc>gg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001651	inframe_deletion	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74479414_74479416delCCA	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1368_1370delTGG	2.37:g.74479423_74479425delCCA	ENSP00000366861:p.Gly457del					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_In_Frame_Del_p.GG456del|SLC4A5_ENST00000359484.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000377634.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000346834.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000358683.4_In_Frame_Del_p.GG392del|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000377632.1_In_Frame_Del_p.GG456del	p.GG456del	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			16	1765_1767	-			456			Gly-rich.			In_Frame_Del	DEL	ENST00000377634.4	37	c.1368_1370delTGG	CCDS1936.1																																																																																				0.635	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	317						8	317	---	---	---	---	-	74479416	CCA	-	74479414	7	5	73	1	0	1	0	1	0	0	0	0	14707	739	26	0	2107	0	SLC4A5	2	74479414	In_Frame_Del	DEL	CCA	TCGA-HZ-A77O-01A-11D-A33T-08	42004729	74479414	168719959	20	9013											
ACTR1B	10120	broad.mit.edu	37	chr2	98273974	98273974	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcggtctccgaagccTgtgaacacaaagctggctga	11	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:98273974T>A	ENST00000289228.5	-	9	1142		c.e9-2			NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTCCGAAGCCTGTGAACACAA	0.587																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.e9-2		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							93	101	98					2																	98273974		2203	4300	6503	SO:0001630	splice_region_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98273974T>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.926-2A>T	2.37:g.98273974T>A								NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			9	1142	-								D3DVH2|Q53SK5|Q9BRB7	Splice_Site	SNP	ENST00000289228.5	37		CCDS2033.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600952	0.87055	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3258	0.60459	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTR1B	97640406	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.639000	0.83342	2.034000	0.60081	0.459000	0.35465	.		0.587	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	Intron	5	547	0	0	0	1	0	5	547					A	98273974	T	A	98273974	5	1	73	1	0	0	0	0	0	0	1	0	210	1594	55	5	218	5	ACTR1B	2	98273974	Splice_Site	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	23794560	98273974	144925399	21	9014											
LYG1	129530	broad.mit.edu	37	chr2	99907775	99907775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctggacaagacaccagcGatcacggcaggatccatgca	10	13	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	86					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(256-258)atC>atT		lysozyme G-like 1							177	145	156					2																	99907775		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99907775G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.258C>T	2.37:g.99907775G>A						LYG1_ENST00000308528.4_Silent_p.I86I	p.I86I			Q8N1E2	LYG1_HUMAN			6	574	-			86					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.258C>T	CCDS2043.1																																																																																				0.488	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		98	296	0	0	0	1	0	98	296					A	99907775	G	A	99907775	2	1	73	1	0	0	0	0	0	0	0	1	9143	1048	37	1		1	LYG1	2	99907775	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1633801	99907775	143291598	22	9015											
RANBP2	5903	broad.mit.edu	37	chr2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcgatgggcagaagatcAgaattctttactgaaaatga	9	7	2	5			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGAAGATCAGAATTCTTTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2419-2421)cAg>cGg		RAN binding protein 2							148	169	162					2																	109371669		2201	4299	6500	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371669A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2420A>G	2.37:g.109371669A>G	ENSP00000283195:p.Gln807Arg						p.Q807R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2546	+			807					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2420A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.182482	0.57800	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25749	1.78	5.8	5.8	0.92144	.	.	.	.	.	T	0.30634	0.0771	L	0.36672	1.1	0.37082	D	0.89904	P	0.52463	0.953	P	0.50109	0.631	T	0.11251	-1.0595	9	0.30854	T	0.27	-7.4262	16.1496	0.81605	1.0:0.0:0.0:0.0	.	807	P49792	RBP2_HUMAN	R	807	ENSP00000283195:Q807R	ENSP00000283195:Q807R	Q	+	2	0	RANBP2	108738101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	CAG		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		11	1159	0	0	0	1	0	11	1159					G	109371669	A	G	109371669	3	3	73	1	0	0	0	0	1	0	0	0	13078	188	7	4	2486	4	RANBP2	2	109371669	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	9463894	109371669	133827704	23	9016			1	15		2	2	17	A		9.923053e-05
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		10	1102	0	0	0	1	0	10	1102					T	109371685	A	T	109371685	3	4	73	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	16	109371685	133827688	24	9017			1	15		2	2	17	A		9.923053e-05
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-													gaagaatggccgtggtgtgaTttttggccaaacaagtagca							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5809-5811)atfs		RAN binding protein 2							93	111	105					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1804						7	1804	---	---	---	---	-	109382805	T	-	109382805	7	5	73	1	0	1	0	1	0	0	0	0	13078	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	11120	109382805	133816568	25	9018											
PLA2R1	22925	broad.mit.edu	37	chr2	160801442	160801442	+	Frame_Shift_Del	DEL	T	T	-													tccattttacatataaagccTtttttttcttgacacgggga							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:160801442delT	ENST00000283243.7	-	28	4325	c.4119delA	c.(4117-4119)aaafs	p.K1373fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1373	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATAAAGCCTTTTTTTTCTT	0.403																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4119)aafs		phospholipase A2 receptor 1, 180kDa							137	138	138					2																	160801442		2203	4300	6503	SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801442delT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4119delA	2.37:g.160801442delT	ENSP00000283243:p.Lys1373fs					PLA2R1_ENST00000460710.1_5'UTR	p.K1373fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325	-			1373			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Del	DEL	ENST00000283243.7	37	c.4119delA	CCDS33309.1																																																																																				0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			8	890						8	890	---	---	---	---	-	160801442	T	-	160801442	7	5	73	1	0	1	0	1	0	0	0	0	12052	1606	56	0	284	0	PLA2R1	2	160801442	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	51418637	160801442	82397931	26	9019											
XIRP2	129446	broad.mit.edu	37	chr2	168104998	168105000	+	In_Frame_Del	DEL	CCT	CCT	-													gttcatcgatgtttctgccgCctcctcctcctccaactcca							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:168104998_168105000delCCT	ENST00000409195.1	+	9	7185_7187	c.7096_7098delCCT	c.(7096-7098)cctdel	p.P2370del	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2195					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)				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						GTTTCTGCCGCCTCCTCCTCCTC	0.468																																						ENST00000409195.1																			0				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						c.(7096-7098)del		xin actin-binding repeat containing 2																																				SO:0001651	inframe_deletion	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104998_168105000delCCT	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.7096_7098delCCT	2.37:g.168105007_168105009delCCT	ENSP00000386840:p.Pro2370del					XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del	p.P2370del	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7185_7187	+			2195					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	In_Frame_Del	DEL	ENST00000409195.1	37	c.7096_7098delCCT	CCDS42769.1																																																																																				0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	728						8	728	---	---	---	---	-	168105000	CCT	-	168104998	7	5	73	1	0	1	0	1	0	0	0	0	17484	739	26	0	7126	0	XIRP2	2	168104998	In_Frame_Del	DEL	CCT	TCGA-HZ-A77O-01A-11D-A33T-08	7303556	168104998	75094375	27	9020											
DHRS9	10170	broad.mit.edu	37	chr2	169940070	169940070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatactccatccaaatatgCagtggaaggtttcaatgaca	7	9	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:169940070C>T	ENST00000327239.4	+	6	2049	c.545C>T	c.(544-546)gCa>gTa	p.A182V	DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	182					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAAATATGCAGTGGAAGGT	0.403																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(544-546)gCa>gTa		dehydrogenase/reductase (SDR family) member 9							64	60	62					2																	169940070		2203	4299	6502	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169940070C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.545C>T	2.37:g.169940070C>T	ENSP00000316670:p.Ala182Val					DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V	p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			6	2049	+			182					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.545C>T	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898824	0.91962	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.95554	-3.05;-3.05;-3.05;-3.05;-3.74;-3.05;-3.05	5.93	5.05	0.67936	NAD(P)-binding domain (1);	0.097035	0.64402	D	0.000002	D	0.98595	0.9530	H	0.98068	4.14	0.45452	D	0.99842	D;D	0.67145	0.996;0.984	D;D	0.70487	0.969;0.925	D	0.99470	1.0945	10	0.87932	D	0	.	15.27	0.73693	0.0:0.583:0.417:0.0	.	242;182	B7Z416;Q9BPW9	.;DHRS9_HUMAN	V	182;182;242;182;35;182;182	ENSP00000316670:A182V;ENSP00000350154:A182V;ENSP00000389241:A242V;ENSP00000388564:A182V;ENSP00000388066:A35V;ENSP00000407167:A182V;ENSP00000407747:A182V	ENSP00000316670:A182V	A	+	2	0	DHRS9	169648316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.657000	0.61490	1.505000	0.48720	0.655000	0.94253	GCA		0.403	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		62	245	0	0	0	1	0	62	245					T	169940070	C	T	169940070	3	4	73	1	0	0	0	0	1	0	0	0	4514	710	25	2	551	2	DHRS9	2	169940070	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	1835072	169940070	73259303	28	9021											
DNAH7	56171	broad.mit.edu	37	chr2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T													agtcagagtcatcgctaataINStttttttttacaagtgatga					rs397987193|rs71015736|rs34468832		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {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)			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						CATCGCTAATATTTTTTTTTAC	0.421																																						ENST00000312428.6																			0				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						c.(3769-3771)aatfs		dynein, axonemal, heavy chain 7				0,3664		0,0,1832						-9.7	0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788373_196788374insT	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.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870_3871	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.3770_3771insA	CCDS42794.1																																																																																				0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	416						7	416	---	---	---	---	T	196788374	-	T	196788373	7	5	73	1	0	1	1	0	0	0	0	0	4622	446	16	0	8475	0	DNAH7	2	196788373	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	26848303	196788373	46411000	29	9022											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		9	652						9	652	---	---	---	---	T	201437004	-	T	201437003	7	5	73	1	0	1	1	0	0	0	0	0	14267	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	4648630	201437003	41762370	30	9023											
PRKAG3	53632	broad.mit.edu	37	chr2	219691687	219691687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtgcagacacacgccGgtccacaaagatgtccagtg	12	12	0	2	rs376397046		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:219691687G>A	ENST00000529249.1	-	10	1447	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R194W|PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R353W			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	378	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GACACACGCCGGTCCACAAAG	0.602																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1057-1059)Cgg>Tgg		protein kinase, AMP-activated, gamma 3 non-catalytic subunit		G	TRP/ARG	0,4406		0,0,2203	91	85	87		1132	5.8	1	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKAG3	NM_017431.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	378/490	219691687	1,13005	2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691687G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1132C>T	2.37:g.219691687G>A	ENSP00000436068:p.Arg378Trp					PRKAG3_ENST00000545803.1_Missense_Mutation_p.R194W|PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R378W	p.R353W	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1152	-		Renal(207;0.0474)	378					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1057C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389513	0.82902	0.0	1.16E-4	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96766	0.9565	10	0.87932	D	0	-20.4027	13.8848	0.63702	0.0:0.0:0.8478:0.1522	.	378	Q9UGI9	AAKG3_HUMAN	W	353;194;378	ENSP00000397133:R353W;ENSP00000444536:R194W;ENSP00000436068:R378W	ENSP00000233944:R378W	R	-	1	2	PRKAG3	219399931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.979000	0.49313	2.729000	0.93468	0.655000	0.94253	CGG		0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			5	516	0	0	0	1	0	5	516					A	219691687	G	A	219691687	3	1	73	1	0	0	0	0	1	0	0	0	12549	1115	39	1	353	1	PRKAG3	2	219691687	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	18254684	219691687	23507686	31	9024											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		11	456						11	456	---	---	---	---	-	227660810	GCT	-	227660808	7	5	73	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-HZ-A77O-01A-11D-A33T-08	7969121	227660808	15538565	32	9025											
TRPM8	79054	broad.mit.edu	37	chr2	234879010	234879010	+	Frame_Shift_Del	DEL	C	C	-													gatttccattcggtgccacaCccccccgagctggtcctgta					rs201204922		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:234879010delC	ENST00000324695.4	+	17	2335	c.2295delC	c.(2293-2295)cacfs	p.H765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGTGCCACACCCCCCCGAGC	0.577																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2293-2295)cafs		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						309	295	300					2																	234879010		2203	4300	6503	SO:0001589	frameshift_variant	79054					integral to membrane		g.chr2:234879010delC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2295delC	2.37:g.234879010delC	ENSP00000323926:p.His765fs					TRPM8_ENST00000433712.2_Intron	p.H765fs	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2335	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	765					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Frame_Shift_Del	DEL	ENST00000324695.4	37	c.2295delC	CCDS33407.1																																																																																				0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		11	1850						11	1850	---	---	---	---	-	234879010	C	-	234879010	7	5	73	1	0	1	0	1	0	0	0	0	16645	506	18	0	2357	0	TRPM8	2	234879010	Frame_Shift_Del	DEL	C	TCGA-HZ-A77O-01A-11D-A33T-08	7218202	234879010	8320363	33	9026											
PER2	8864	broad.mit.edu	37	chr2	239169499	239169499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtgagtcctcatggccGttgctgtcgctggaggaggt	17	10	1	1	rs145850151		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:239169499G>A	ENST00000254657.3	-	13	1791	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	504					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)			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)		CCTCATGGCCGTTGCTGTCGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.001	False		,,,				2504	0.0					ENST00000254657.3																			0				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						c.(1510-1512)aaC>aaT		period circadian clock 2							173	191	185					2																	239169499		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239169499G>A	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.1512C>T	2.37:g.239169499G>A						PER2_ENST00000254658.3_3'UTR	p.N504N	NM_022817.2	NP_073728.1	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)	13	1791	-		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)	504					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.1512C>T	CCDS2528.1																																																																																				0.602	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		9	1274	0	0	0	1	0	9	1274					A	239169499	G	A	239169499	2	1	73	1	0	0	0	0	0	0	0	1	11772	1136	40	1		1	PER2	2	239169499	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	4290489	239169499	4029874	34	9027											
PASK	23178	broad.mit.edu	37	chr2	242066535	242066535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccccgccagctgacCcttggcctggggcttggcca	13	18	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242066535C>T	ENST00000405260.1	-	10	2493	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S	PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000403638.3_Missense_Mutation_p.G599S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	599					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAGCTGACCCTTGGCCTGG	0.667																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1795-1797)Ggt>Agt		PAS domain containing serine/threonine kinase							31	37	35					2																	242066535		2201	4295	6496	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066535C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1795G>A	2.37:g.242066535C>T	ENSP00000384016:p.Gly599Ser					PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S|PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S	p.G599S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1886	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	599					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1795G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009368	0.35415	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.72167	-0.63;-0.62;-0.63;-0.58;-0.6;0.26	4.63	2.74	0.32292	.	0.226096	0.30732	N	0.008999	T	0.63307	0.2500	L	0.34521	1.04	0.09310	N	1	B;D;B;D;B	0.61697	0.214;0.99;0.319;0.977;0.214	B;P;B;P;B	0.51806	0.056;0.68;0.121;0.566;0.056	T	0.54316	-0.8312	10	0.49607	T	0.09	.	5.8111	0.18467	0.0:0.7558:0.0:0.2442	.	564;413;599;599;599	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	599;413;599;599;383;599	ENSP00000234040:G599S;ENSP00000441374:G413S;ENSP00000384016:G599S;ENSP00000351475:G599S;ENSP00000443083:G383S;ENSP00000384438:G599S	ENSP00000234040:G599S	G	-	1	0	PASK	241715208	0.000000	0.05858	0.033000	0.17914	0.044000	0.14063	0.026000	0.13599	1.211000	0.43351	0.561000	0.74099	GGT		0.667	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		48	498	0	0	0	1	0	48	498					T	242066535	C	T	242066535	3	4	73	1	0	0	0	0	1	0	0	0	11514	623	22	2	2212	2	PASK	2	242066535	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2897036	242066535	1132838	35	9028											
HDLBP	3069	broad.mit.edu	37	chr2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcaccttgcgaattttgCcgccccccttgccgatgagg	11	16	0	1	rs199968516		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170	158	162					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	730	0	0	0	1	0	6	730					T	242179464	C	T	242179464	3	4	73	1	0	0	0	0	1	0	0	0	7055	739	26	2	1607	2	HDLBP	2	242179464	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	112929	242179464	1019909	36	9029											
MST1	327	broad.mit.edu	37	chr3	49721622	49721622	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggcccccgtagtcacCctggcaggtaggagaactga	14	11	1	2	rs200268600		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Splice_Site_p.G673S|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.e18-1		macrophage stimulating 1 (hepatocyte growth factor-like)							19	19	19					3																	49721622		2202	4294	6496	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721622C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T							p.G673_splice	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	18	2378	-			659			Peptidase S1.		Q9BQ33|Q9P0Y2	Splice_Site	SNP	ENST00000296456.5	37	c.2016_splice	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			10	202	0	0	0	1	0	10	202					T	49721622	C	T	49721622	1	4	73	0	1	0	0	0	0	0	0	0	9931	637	22	2		2	MST1	3	49721622	IGR	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		49721622	148300808	37	9030											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	519						9	519	---	---	---	---	-	53529195	GAT	-	53529193	7	5	73	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-HZ-A77O-01A-11D-A33T-08	3807571	53529193	144493237	38	9031											
ROBO1	6091	broad.mit.edu	37	chr3	78683085	78683085	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggttcatcttacttacCagatgtactactgccccggt	7	12	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:78683085C>T	ENST00000464233.1	-	24	3594	c.3481G>A	c.(3481-3483)Ggg>Agg	p.G1161R	ROBO1_ENST00000467549.1_Splice_Site_p.G1061R|ROBO1_ENST00000436010.2_Splice_Site_p.G1122R|ROBO1_ENST00000495273.1_Splice_Site_p.G1116R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1161					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)			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)		TCTTACTTACCAGATGTACTA	0.428																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.e22+1		roundabout, axon guidance receptor, homolog 1 (Drosophila)							202	189	193					3																	78683085		1919	4131	6050	SO:0001630	splice_region_variant	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.chr3:78683085C>T	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.3481+1G>A	3.37:g.78683085C>T						ROBO1_ENST00000495273.1_Splice_Site_p.G1116_splice|ROBO1_ENST00000467549.1_Splice_Site_p.G1061_splice|ROBO1_ENST00000464233.1_Splice_Site_p.G1161_splice	p.G1122_splice			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)	22	4361	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1161					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Splice_Site	SNP	ENST00000464233.1	37	c.3364_splice	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319845	0.81469	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	M	0.65498	2.005	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.942;1.0;0.997;0.992	D;P;D;P;P	0.91635	0.999;0.749;0.999;0.852;0.904	D	0.90475	0.4456	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1125;1161;1116;1061;1122	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	1122;1116;1161;1116;1061;1165	ENSP00000406043:G1122R;ENSP00000420321:G1161R;ENSP00000420637:G1116R;ENSP00000417992:G1061R	.	G	-	1	0	ROBO1	78765775	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.273000	0.78527	2.760000	0.94817	0.655000	0.94253	GGG		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Missense_Mutation	4	286	0	0	0	1	0	4	286					T	78683085	C	T	78683085	5	4	73	1	0	0	0	0	0	0	1	0	13563	608	21	2	1506	2	ROBO1	3	78683085	Splice_Site	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	25153892	78683085	119339345	39	9032											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	630						8	630	---	---	---	---	-	113380090	T	-	113380090	7	5	73	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	34697005	113380090	84642340	40	9033											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		6	412	0	0	0	1	0	6	412					A	129370592	T	A	129370592	3	1	73	1	0	0	0	0	1	0	0	0	16044	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	15990502	129370592	68651838	41	9034											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		5	333	0	0	0	1	0	5	333					A	129695840	G	A	129695840	2	1	73	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	325248	129695840	68326590	42	9035											
FAM194A	131831	broad.mit.edu	37	chr3	150384656	150384656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtcttgttctaagatgCggactccaatataacggttc	8	9	3	1	rs199929972		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:150384656C>T	ENST00000295910.6	-	13	1698	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	FAM194A_ENST00000491361.1_Missense_Mutation_p.R403H	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTAAGATGCGGACTCCAAT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19456	0.0		0.0	False		,,,				2504	0.001					ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1645-1647)cGc>cAc		family with sequence similarity 194, member A							121	117	118					3																	150384656		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150384656C>T																												ENST00000295910.6:c.1646G>A	3.37:g.150384656C>T	ENSP00000295910:p.Arg549His					FAM194A_ENST00000491361.1_Missense_Mutation_p.R403H	p.R549H	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			13	1698	-			549						Missense_Mutation	SNP	ENST00000295910.6	37	c.1646G>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571845	0.86542	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.16597	2.33;2.33	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000009	T	0.43853	0.1266	M	0.69823	2.125	0.42916	D	0.994271	D	0.89917	1.0	D	0.91635	0.999	T	0.38499	-0.9658	10	0.87932	D	0	-15.9343	17.9829	0.89147	0.0:1.0:0.0:0.0	.	549	Q7L0X2	F194A_HUMAN	H	549;403;507	ENSP00000295910:R549H;ENSP00000419366:R403H	ENSP00000295910:R549H	R	-	2	0	FAM194A	151867346	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.067000	0.64357	2.544000	0.85801	0.655000	0.94253	CGC		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			5	475	0	0	0	1	0	5	475					T	150384656	C	T	150384656	3	4	73	1	0	0	0	0	1	0	0	0	5547	768	27	1	353	1	FAM194A	3	150384656	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	20688816	150384656	47637774	43	9036											
SLC2A2	6514	broad.mit.edu	37	chr3	170723136	170723136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactagaataggctgtcGgtagctggaattggtgaaga	14	6	0	3	rs121909743		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:170723136G>A	ENST00000314251.3	-	7	980	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	301					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.R301*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATAGGCTGTCGGTAGCTGGAA	0.418																																						ENST00000314251.3																			1	Substitution - Nonsense(1)	p.R301*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	GRCh37	CM971382	SLC2A2	M	rs121909743	c.(901-903)Cga>Tga		solute carrier family 2 (facilitated glucose transporter), member 2							201	182	189					3																	170723136		2203	4300	6503	SO:0001587	stop_gained	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170723136G>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.901C>T	3.37:g.170723136G>A	ENSP00000323568:p.Arg301*					SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	p.R301*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		7	980	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		301					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Nonsense_Mutation	SNP	ENST00000314251.3	37	c.901C>T	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930078	0.52759	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	.	.	.	5.53	2.71	0.32032	.	0.053497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9913	0.41872	0.0638:0.0:0.5056:0.4306	.	.	.	.	X	301;182	.	ENSP00000323568:R301X	R	-	1	2	SLC2A2	172205830	1.000000	0.71417	0.209000	0.23619	0.110000	0.19582	1.608000	0.36847	0.357000	0.24183	0.591000	0.81541	CGA		0.418	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		10	441	0	0	0	1	0	10	441					A	170723136	G	A	170723136	4	1	73	1	0	0	0	0	0	1	0	0	14594	1124	39	1	693	1	SLC2A2	3	170723136	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	20338480	170723136	27299294	44	9037											
PPP2R2C	5522	broad.mit.edu	37	chr4	6473911	6473911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacatagctgtggtcccGcaggaagctgtggttaattt	12	8	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:6473911G>A	ENST00000382599.4	-	1	262	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	16					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTGTGGTCCCGCAGGAAGCTG	0.642																																						ENST00000382599.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(46-48)Cgg>Tgg		protein phosphatase 2, regulatory subunit B, gamma							173	156	162					4																	6473911		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473911G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.46C>T	4.37:g.6473911G>A	ENSP00000372042:p.Arg16Trp					PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron	p.R16W			Q9Y2T4	2ABG_HUMAN			1	262	-			16					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	g	9.528	1.109960	0.20714	.	.	ENSG00000074211	ENST00000382599	T	0.32272	1.46	2.38	2.38	0.29361	WD40 repeat-like-containing domain (1);	14.402700	0.00754	U	0.001094	T	0.29749	0.0743	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.25759	0.063	T	0.11036	-1.0604	9	0.72032	D	0.01	.	11.6695	0.51393	0.0:0.0:1.0:0.0	.	16	Q9Y2T4	2ABG_HUMAN	W	16	ENSP00000372042:R16W	ENSP00000372042:R16W	R	-	1	2	PPP2R2C	6524812	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.519000	0.73768	0.885000	0.36088	0.152000	0.16155	CGG		0.642	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		6	745	0	0	0	1	0	6	745					A	6473911	G	A	6473911	3	1	73	1	0	0	0	0	1	0	0	0	12433	1086	38	1	1407	1	PPP2R2C	4	6473911	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		6473911	184680365	45	9038											
SH3TC1	54436	broad.mit.edu	37	chr4	8218705	8218705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccttctttgtcctgtgtcCtgaccaccatgtgagagtga	10	12	1	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:8218705C>G	ENST00000245105.3	+	7	717	c.650C>G	c.(649-651)cCt>cGt	p.P217R	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P141R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	217										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTCCTGTGTCCTGACCACCAT	0.682																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(421-423)cCt>cGt		SH3 domain and tetratricopeptide repeats 1							108	94	99					4																	8218705		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8218705C>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.650C>G	4.37:g.8218705C>G	ENSP00000245105:p.Pro217Arg					SH3TC1_ENST00000245105.3_Missense_Mutation_p.P217R	p.P141R			Q8TE82	S3TC1_HUMAN			7	796	+			217					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.422C>G	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057449	0.36277	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76186	-1.0;-0.99;0.19	3.92	3.06	0.35304	.	0.353893	0.25523	N	0.030088	T	0.79240	0.4412	L	0.43152	1.355	0.34759	D	0.732591	D	0.62365	0.991	D	0.66847	0.947	D	0.83857	0.0266	10	0.72032	D	0.01	-1.8145	11.6341	0.51194	0.0:0.8195:0.1805:0.0	.	217	Q8TE82	S3TC1_HUMAN	R	217;141;46;26	ENSP00000245105:P217R;ENSP00000441045:P141R;ENSP00000426035:P26R	ENSP00000245105:P217R	P	+	2	0	SH3TC1	8269605	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	2.970000	0.49240	0.617000	0.30160	0.313000	0.20887	CCT		0.682	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		84	374	0	0	0	1	0	84	374					G	8218705	C	G	8218705	3	3	73	1	0	0	0	0	1	0	0	0	14311	681	24	5	672	5	SH3TC1	4	8218705	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	1744794	8218705	182935571	46	9039											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444203	15444203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacacaatgggcaataccGgataaagaccttcgacgcca	10	11	0	1	rs150953206	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:15444203G>A	ENST00000444304.2	+	3	976	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.R224Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	217	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGGCAATACCGGATAAAGACC	0.458													G|||	4	0.000798722	0.0	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0041					ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(670-672)cGg>cAg		C1q and tumor necrosis factor related protein 7		G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	116	120	119		671,650,650	3.9	1	4	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	43,43,43	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	possibly-damaging,possibly-damaging,possibly-damaging	224/297,217/290,217/290	15444203	7,12999	2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444203G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.650G>A	4.37:g.15444203G>A	ENSP00000388914:p.Arg217Gln					C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R217Q	p.R224Q	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	930	+			217			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.671G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276090	0.59649	4.54E-4	5.81E-4	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74947	-0.89;-0.89;-0.89	5.91	3.88	0.44766	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.208186	0.40469	N	0.001094	T	0.59487	0.2197	L	0.27975	0.815	0.40721	D	0.982661	P	0.42993	0.797	B	0.39531	0.302	T	0.59257	-0.7488	9	.	.	.	.	10.9568	0.47362	0.2194:0.0:0.7806:0.0	.	217	Q9BXJ2	C1QT7_HUMAN	Q	224;217;217	ENSP00000295297:R224Q;ENSP00000410722:R217Q;ENSP00000388914:R217Q	.	R	+	2	0	C1QTNF7	15053301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.162000	0.58177	1.505000	0.48720	0.655000	0.94253	CGG		0.458	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			6	835	0	0	0	1	0	6	835					A	15444203	G	A	15444203	3	1	73	1	0	0	0	0	1	0	0	0	1975	1116	39	1	681	1	C1QTNF7	4	15444203	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	7225498	15444203	175710073	47	9040											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	10	10	2	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206	217	213					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	1119	0	0	0	1	0	9	1119					T	22390725	C	T	22390725	2	4	73	1	0	0	0	0	0	0	0	1	6668	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	6946522	22390725	168763551	48	9041											
CCDC158	339965	broad.mit.edu	37	chr4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-													catgctgtcatgttcacataTttttttgcctgaggcttctt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(610-612)tafs		coiled-coil domain containing 158							106	97	100					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965							g.chr4:77305357delT	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs					CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	762	-			204					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.610delA	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		10	653						10	653	---	---	---	---	-	77305357	T	-	77305357	7	5	73	1	0	1	0	1	0	0	0	0	2797	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	54914632	77305357	113848919	49	9042											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	377						8	377	---	---	---	---	-	81123252	CAG	-	81123250	7	5	73	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-HZ-A77O-01A-11D-A33T-08	3817893	81123250	110031026	50	9043											
SCD5	79966	broad.mit.edu	37	chr4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttactttctctggatcCggaccacaggatcagcaagc	8	13	3	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	186					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCTCTGGATCCGGACCACAGG	0.512																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(556-558)cGg>cAg		stearoyl-CoA desaturase 5							85	80	81					4																	83601872		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83601872C>T	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.557G>A	4.37:g.83601872C>T	ENSP00000316329:p.Arg186Gln					SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			3	876	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	186					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.557G>A	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603393	0.46423	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.13538	2.58;2.58	5.34	-3.29	0.05017	Fatty acid desaturase, type 1 (1);	0.274691	0.36034	N	0.002837	T	0.05135	0.0137	L	0.31664	0.95	0.54753	D	0.99998	P;B	0.41265	0.744;0.104	B;B	0.30401	0.115;0.025	T	0.42965	-0.9420	10	0.39692	T	0.17	-11.999	1.765	0.03000	0.1963:0.3386:0.0973:0.3678	.	186;186	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	Q	186	ENSP00000316329:R186Q;ENSP00000273908:R186Q	ENSP00000273908:R186Q	R	-	2	0	SCD5	83820896	0.809000	0.29036	0.950000	0.38849	0.985000	0.73830	0.050000	0.14120	-0.917000	0.03813	0.591000	0.81541	CGG		0.512	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		73	283	0	0	0	1	0	73	283					T	83601872	C	T	83601872	3	4	73	1	0	0	0	0	1	0	0	0	13937	652	23	1	653	1	SCD5	4	83601872	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2478622	83601872	107552404	51	9044											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	551						8	551	---	---	---	---	-	106863684	CCA	-	106863682	7	5	73	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-HZ-A77O-01A-11D-A33T-08	23261810	106863682	84290594	52	9045											
CLCN3	1182	broad.mit.edu	37	chr4	170618538	170618538	+	Frame_Shift_Del	DEL	T	T	-													ttggagggctttggggagccTttttcattagggcaaatatt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:170618538delT	ENST00000513761.1	+	9	1775	c.1216delT	c.(1216-1218)tttfs	p.F407fs	CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	407					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1216-1218)ttfs		chloride channel, voltage-sensitive 3							145	144	144					4																	170618538		2203	4300	6503	SO:0001589	frameshift_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618538delT	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1216delT	4.37:g.170618538delT	ENSP00000424603:p.Phe407fs					CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs	p.F407fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1775	+		Prostate(90;0.00601)|Renal(120;0.0183)	407					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	c.1216delT	CCDS34101.1																																																																																				0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			8	910						8	910	---	---	---	---	-	170618538	T	-	170618538	7	5	73	1	0	1	0	1	0	0	0	0	3473	1609	56	0	1246	0	CLCN3	4	170618538	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	63754856	170618538	20535738	53	9046											
ODZ3	55714	broad.mit.edu	37	chr4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggacagtgatctaccGttatgacggcctgggaaggc	15	9	1	2	rs201200379	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2228					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2228H(1)									GTGATCTACCGTTATGACGGC	0.463													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18725	0.0		0.001	False		,,,				2504	0.0					ENST00000511685.1																			1	Substitution - Missense(1)	p.R2228H(1)	large_intestine(1)								c.(6682-6684)cGt>cAt		teneurin transmembrane protein 3							78	80	79					4																	183714508		1898	4121	6019	SO:0001583	missense	55714							g.chr4:183714508G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6683G>A	4.37:g.183714508G>A	ENSP00000424226:p.Arg2228His					TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H	p.R2228H							26	6806	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6683G>A	CCDS47165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.04	1.242130	0.22796	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	4.65	4.65	0.58169	.	.	.	.	.	D	0.93223	0.7841	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.91401	0.5143	9	0.15952	T	0.53	.	17.7429	0.88412	0.0:0.0:1.0:0.0	.	2228	Q9P273	TEN3_HUMAN	H	2228	ENSP00000424226:R2228H;ENSP00000385276:R2228H	ENSP00000385276:R2228H	R	+	2	0	ODZ3	183951502	1.000000	0.71417	0.900000	0.35374	0.648000	0.38561	7.767000	0.85331	2.417000	0.82017	0.563000	0.77884	CGT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			70	244	0	0	0	1	0	70	244					A	183714508	G	A	183714508	3	1	73	1	0	0	0	0	1	0	0	0	10878	1145	40	1	6781	1	ODZ3	4	183714508	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	13095970	183714508	7439768	54	9047											
FAT1	2195	broad.mit.edu	37	chr4	187540378	187540378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatggcttcagggcgtgCcggtgcaggtttgagagggt	17	6	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:187540378C>T	ENST00000441802.2	-	10	7571	c.7362G>A	c.(7360-7362)cgG>cgA	p.R2454R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2454	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGGGCGTGCCGGTGCAGGT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7360-7362)cgG>cgA		FAT atypical cadherin 1							169	175	173					4																	187540378		2049	4187	6236	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540378C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7362G>A	4.37:g.187540378C>T		HNSCC(5;0.00058)					p.R2454R	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7571	-			2454			Cadherin 22.			Silent	SNP	ENST00000441802.2	37	c.7362G>A	CCDS47177.1																																																																																				0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	1032	0	0	0	1	0	7	1032					T	187540378	C	T	187540378	2	4	73	1	0	0	0	0	0	0	0	1	5714	726	26	2		2	FAT1	4	187540378	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	3825870	187540378	3613898	55	9048											
GDF9	2661	broad.mit.edu	37	chr5	132199861	132199861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggagcctgcttgtgcCgggtacagggggtgaagagc	17	10	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:132199861C>T	ENST00000378673.2	-	2	1231	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q|GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTTGTGCCGGGTACAGGG	0.463																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(364-366)cGg>cAg		growth differentiation factor 9							107	121	116					5																	132199861		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132199861C>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.365G>A	5.37:g.132199861C>T	ENSP00000367942:p.Arg122Gln					GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q	p.R122Q			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	1231	-		all_cancers(142;0.105)|Breast(839;0.198)	122					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.365G>A	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456158	0.12283	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.57436	0.4;0.4	5.61	1.73	0.24493	.	0.400271	0.24909	N	0.034632	T	0.09024	0.0223	N	0.00025	-2.675	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.06365	T	0.9	.	6.5274	0.22309	0.2293:0.0674:0.0:0.7032	.	122	O60383	GDF9_HUMAN	Q	122	ENSP00000367942:R122Q;ENSP00000296875:R122Q	ENSP00000296875:R122Q	R	-	2	0	GDF9	132227760	0.974000	0.33945	0.894000	0.35097	0.991000	0.79684	1.412000	0.34714	0.044000	0.15775	-0.294000	0.09567	CGG		0.463	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		8	651	0	0	0	1	0	8	651					T	132199861	C	T	132199861	3	4	73	1	0	0	0	0	1	0	0	0	6348	652	23	1	1007	1	GDF9	5	132199861	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		132199861	48715399	56	9049											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:137627690delT	ENST00000323760.6	-	8	1009	c.731delA	c.(730-732)aagfs	p.K244fs	CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	244					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGAAAAATACTTTTTTTTAAC	0.388																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(730-732)agfs		cell division cycle 25C							132	136	135					5																	137627690		2203	4300	6503	SO:0001589	frameshift_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137627690delT	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.731delA	5.37:g.137627690delT	ENSP00000321656:p.Lys244fs					CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs	p.K244fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	1009	-			244					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Frame_Shift_Del	DEL	ENST00000323760.6	37	c.731delA	CCDS4202.1																																																																																				0.388	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			7	673						7	673	---	---	---	---	-	137627690	T	-	137627690	7	5	73	1	0	1	0	1	0	0	0	0	3073	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	5427829	137627690	43287570	57	9050											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169	167	168					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		7	1418						7	1418	---	---	---	---	-	149375600	T	-	149375600	7	5	73	1	0	1	0	1	0	0	0	0	15952	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	11747910	149375600	31539660	58	9051											
EHMT2	10919	broad.mit.edu	37	chr6	31851582	31851582	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgggccccctactcaCctgcaggtgggtgatgttgc	14	15	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31851582C>A	ENST00000375537.4	-	22	2923		c.e22+1		EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCCTACTCACCTGCAGGTGG	0.577																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.e21+1		euchromatic histone-lysine N-methyltransferase 2							129	133	131					6																	31851582		2203	4300	6503	SO:0001630	splice_region_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31851582C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2916+1G>T	6.37:g.31851582C>A						EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000375537.4_Splice_Site				Q96KQ7	EHMT2_HUMAN			21	3087	-								B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	ENST00000375537.4	37		CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611253	0.66558	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5583	0.76216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31959561	1.000000	0.71417	0.994000	0.49952	0.797000	0.45037	7.543000	0.82106	2.402000	0.81655	0.655000	0.94253	.		0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	Intron	11	1092	1	0	0.00307968	1	0.00315075	11	1092					A	31851582	C	A	31851582	5	1	73	1	0	0	0	0	0	0	1	0	5000	521	18	3	743	3	EHMT2	6	31851582	Splice_Site	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		31851582	139263485	59	9052											
EHMT2	10919	broad.mit.edu	37	chr6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-													cctcttcctcctcctcttccTcttcttcttcttcctcctct					rs138941874		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31857309_31857311delTCT	ENST00000375537.4	-	8	939_941	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_ENST00000395728.3_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000375530.4_In_Frame_Del_p.311_312EE>E	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ctcctcttcctcttcttcttctt	0.493																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1102-1107)gag>ga		euchromatic histone-lysine N-methyltransferase 2																																				SO:0001651	inframe_deletion	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31857309_31857311delTCT	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.933_935delAGA	6.37:g.31857318_31857320delTCT	ENSP00000364687:p.Glu323del					EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000480912.1_5'UTR	p.EE378del			Q96KQ7	EHMT2_HUMAN			7	1103_1105	-			321					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	In_Frame_Del	DEL	ENST00000375537.4	37	c.1104_1106delAGA	CCDS4725.1																																																																																				0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		9	648						9	648	---	---	---	---	-	31857311	TCT	-	31857309	7	5	73	1	0	1	0	1	0	0	0	0	5000	1551	54	0	2781	0	EHMT2	6	31857309	In_Frame_Del	DEL	TCT	TCGA-HZ-A77O-01A-11D-A33T-08	5727	31857309	139257758	60	9053											
C2	717	broad.mit.edu	37	chr6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagaaagcctgggccGtaaaatccaaatccagcgct	8	13	1	1	rs201130773		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000442278.2_Missense_Mutation_p.R111H|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0					ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(727-729)cGt>cAt		complement component 2							108	113	112					6																	31901955		2203	4300	6503	SO:0001583	missense	717							g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron	p.R243H	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	6	1004	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			7	1076	0	0	0	1	0	7	1076					A	31901955	G	A	31901955	3	1	73	1	0	0	0	0	1	0	0	0	2081	1145	40	1	827	1	C2	6	31901955	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	44646	31901955	139213112	61	9054											
PEX6	5190	broad.mit.edu	37	chr6	42933521	42933521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcagccctggccctgGcaaacactgaagagagagag	14	11	0	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:42933521G>A	ENST00000304611.8	-	13	2438	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	PEX6_ENST00000244546.4_Missense_Mutation_p.P708S	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	790					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCTGGCCCTGGCAAACACTGA	0.577																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2368-2370)gCc>gTc		peroxisomal biogenesis factor 6							61	70	67					6																	42933521		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933521G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2369C>T	6.37:g.42933521G>A	ENSP00000303511:p.Ala790Val					PEX6_ENST00000244546.4_Missense_Mutation_p.P708S	p.A790V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		13	2438	-			790					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2369C>T	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600802|3.600802	0.66332|0.66332	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000304611|ENST00000244546	D|D	0.93247|0.94650	-3.19|-3.48	5.86|5.86	5.86|5.86	0.93980|0.93980	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.675668|.	0.16389|.	N|.	0.216557|.	D|D	0.92381|0.92381	0.7582|0.7582	L|L	0.35414|0.35414	1.06|1.06	0.21762|0.21762	N|N	0.999553|0.999553	B|.	0.29955|.	0.263|.	B|.	0.32022|.	0.139|.	D|D	0.89468|0.89468	0.3741|0.3741	10|7	0.45353|0.87932	T|D	0.12|0	-6.5206|-6.5206	19.8035|19.8035	0.96518|0.96518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	790|.	Q13608|.	PEX6_HUMAN|.	V|S	790|708	ENSP00000303511:A790V|ENSP00000244546:P708S	ENSP00000303511:A790V|ENSP00000244546:P708S	A|P	-|-	2|1	0|0	PEX6|PEX6	43041499|43041499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.864000|2.864000	0.48404|0.48404	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		6	864	0	0	0	1	0	6	864					A	42933521	G	A	42933521	3	1	73	1	0	0	0	0	1	0	0	0	11792	1203	42	2	593	2	PEX6	6	42933521	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	11031566	42933521	128181546	62	9055											
CUL9	23113	broad.mit.edu	37	chr6	43164434	43164434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaacctacttttgtgCaaccaccacactctgggaga	7	14	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:43164434C>T	ENST00000252050.4	+	11	2721	c.2637C>T	c.(2635-2637)tgC>tgT	p.C879C	CUL9_ENST00000354495.3_Silent_p.C769C|CUL9_ENST00000372647.2_Silent_p.C879C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	879					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TACTTTTGTGCAACCACCACA	0.502																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2635-2637)tgC>tgT		cullin 9							203	187	192					6																	43164434		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43164434C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2637C>T	6.37:g.43164434C>T						CUL9_ENST00000354495.3_Silent_p.C769C|CUL9_ENST00000372647.2_Silent_p.C879C	p.C879C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			11	2721	+			879					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2637C>T	CCDS4890.1																																																																																				0.502	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	1116	0	0	0	1	0	7	1116					T	43164434	C	T	43164434	2	4	73	1	0	0	0	0	0	0	0	1	4072	718	25	2		2	CUL9	6	43164434	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	230913	43164434	127950633	63	9056											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-													ccgccctgctatcttctggcTtttcccttgaggatccccag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)tttfs	p.F668fs	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2002-2004)ttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1							332	336	334					6																	44221052		2203	4300	6503	SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221052delT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2002delT	6.37:g.44221052delT	ENSP00000360609:p.Phe668fs					HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs	p.F668fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2216	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		668					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.2002delT	CCDS4909.1																																																																																				0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		8	3195						8	3195	---	---	---	---	-	44221052	T	-	44221052	7	5	73	1	0	1	0	1	0	0	0	0	7432	1609	56	0	2040	0	HSP90AB1	6	44221052	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	1056618	44221052	126894015	64	9057											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	451						9	451	---	---	---	---	A	46660415	-	A	46660414	7	5	73	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	2439362	46660414	124454653	65	9058											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T													caagaaagcaaaagcctctgINSttttttttcttgtcatccgg							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	757						8	757	---	---	---	---	T	86332354	-	T	86332353	7	5	73	1	0	1	1	0	0	0	0	0	15496	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	39671939	86332353	84782714	66	9059											
GRM1	2911	broad.mit.edu	37	chr6	146351187	146351187	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaacctgctccagctcttCgacatcccccagatcgctta	6	17	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:146351187C>T	ENST00000282753.1	+	1	769	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000392299.2_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCAGCTCTTCGACATCCCCC	0.542																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(532-534)ttC>ttT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						83	84	84					6																	146351187		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351187C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.534C>T	6.37:g.146351187C>T						GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F	p.F178F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1004	+		Ovarian(120;0.0387)	178					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.534C>T	CCDS5209.1																																																																																				0.542	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		191	358	0	0	0	1	0	191	358					T	146351187	C	T	146351187	2	4	73	1	0	0	0	0	0	0	0	1	6826	883	31	1		1	GRM1	6	146351187	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	60018834	146351187	24763880	67	9060											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		11	193						11	193	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	73	1	0	1	1	0	0	0	0	0	16156	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08		1586662	157552001	68	9061											
PURB	5814	broad.mit.edu	37	chr7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-													catctcatccgcataccggcAaaaggcgcctccgaacttgc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95	104	101					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		7	1076						7	1076	---	---	---	---	-	44924131	A	-	44924131	7	5	73	1	0	1	0	1	0	0	0	0	12878	130	5	0	125	0	PURB	7	44924131	Frame_Shift_Del	DEL	A	TCGA-HZ-A77O-01A-11D-A33T-08	43337469	44924131	114214532	69	9062											
ZNF479	90827	broad.mit.edu	37	chr7	57194311	57194311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacccagggagaccaGgtttctgtagttctctaaca	8	12	3	1	rs547142284		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:57194311G>A	ENST00000331162.4	-	3	424	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			AGGGAGACCAGGTTTCTGTAG	0.378													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21106	0.0		0.0	False		,,,				2504	0.0					ENST00000331162.4																			0				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						c.(154-156)Ctg>Ttg		zinc finger protein 479							93	95	95					7																	57194311		2200	4299	6499	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194311G>A	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.154C>T	7.37:g.57194311G>A							p.L52L	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	424	-			52			KRAB.			Silent	SNP	ENST00000331162.4	37	c.154C>T	CCDS43590.1																																																																																				0.378	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		6	696	0	0	0	1	0	6	696					A	57194311	G	A	57194311	2	1	73	1	0	0	0	0	0	0	0	1	17986	991	35	2		2	ZNF479	7	57194311	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	12270180	57194311	101944352	70	9063											
ASL	435	broad.mit.edu	37	chr7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcctattacctggtccGcaaaggggtaagtgtgtagc	12	10	0	0	rs200853731		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Silent_p.P147P	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95	92	93					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.R353H	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		6	697	0	0	0	1	0	6	697					A	65557066	G	A	65557066	3	1	73	1	0	0	0	0	1	0	0	0	1045	1087	38	1	1190	1	ASL	7	65557066	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	8362755	65557066	93581597	71	9064											
GTF2I	2969	broad.mit.edu	37	chr7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacatgagcttctgaAttcaacacgtgaagatttac	7	8	3	5			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358																																						ENST00000324896.4																			7	Substitution - Missense(7)	p.N440S(7)	endometrium(7)	NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1318-1320)aAt>aGt		general transcription factor IIi							111	102	105					7																	74148279		2201	4300	6501	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74148279A>G	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1319A>G	7.37:g.74148279A>G	ENSP00000322542:p.Asn440Ser					GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S	p.N440S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			16	1708	+			440					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.1319A>G	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085752	0.55861	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.35236	1.34;1.32;1.32;1.32	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	T	0.40670	0.1126	N	0.16368	0.405	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.971;0.99;0.998;0.982	D;P;D;D;D	0.76071	0.97;0.717;0.979;0.987;0.952	T	0.31052	-0.9957	10	0.45353	T	0.12	-19.2887	11.2081	0.48782	1.0:0.0:0.0:0.0	.	418;399;420;419;440	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	440;435;420;419;399	ENSP00000322542:N440S;ENSP00000322671:N420S;ENSP00000322599:N419S;ENSP00000387651:N399S	ENSP00000322542:N440S	N	+	2	0	GTF2I	73786215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.703000	0.54808	1.839000	0.53478	0.477000	0.44152	AAT		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		5	728	0	0	0	1	0	5	728					G	74148279	A	G	74148279	3	3	73	1	0	0	0	0	1	0	0	0	6897	101	4	4	1377	4	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	8591213	74148279	84990384	72	9065											
SAMD9	54809	broad.mit.edu	37	chr7	92732859	92732859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagttgctgtattacggcaAtactgtctgggatccttgca	11	8	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:92732859A>G	ENST00000379958.2	-	3	2821	c.2552T>C	c.(2551-2553)aTt>aCt	p.I851T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	851						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTACGGCAATACTGTCTGG	0.343																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2551-2553)aTt>aCt		sterile alpha motif domain containing 9							64	62	63					7																	92732859		2203	4297	6500	SO:0001583	missense	54809					cytoplasm		g.chr7:92732859A>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2552T>C	7.37:g.92732859A>G	ENSP00000369292:p.Ile851Thr						p.I851T	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2821	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		851					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2552T>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	7.577	0.668027	0.14710	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81499	-1.5;-1.5	4.32	4.32	0.51571	.	0.103207	0.41294	U	0.000918	T	0.76730	0.4028	M	0.65975	2.015	0.26245	N	0.978804	B	0.33694	0.421	B	0.28139	0.086	T	0.73898	-0.3837	10	0.87932	D	0	-2.2486	12.4185	0.55508	1.0:0.0:0.0:0.0	.	851	Q5K651	SAMD9_HUMAN	T	851	ENSP00000369292:I851T;ENSP00000414529:I851T	ENSP00000369292:I851T	I	-	2	0	SAMD9	92570795	0.022000	0.18835	0.116000	0.21606	0.070000	0.16714	2.972000	0.49256	1.813000	0.52934	0.496000	0.49642	ATT		0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		97	333	0	0	0	1	0	97	333					G	92732859	A	G	92732859	3	3	73	1	0	0	0	0	1	0	0	0	13876	101	4	4	2221	4	SAMD9	7	92732859	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	18584580	92732859	66405804	73	9066											
ACTL6B	51412	broad.mit.edu	37	chr7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G													tctccttcttcttccagtttINSgggggggcaccctcccggac							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)ccafs	p.P232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(694-696)caafs		actin-like 6B																																				SO:0001589	frameshift_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100245130_100245131insG	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.696dupC	7.37:g.100245137_100245137dupG	ENSP00000160382:p.Pro232fs						p.Q232fs	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			8	801_802	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		232					A4D2D0|O75421	Frame_Shift_Ins	INS	ENST00000160382.5	37	c.695_696insC	CCDS5702.1																																																																																				0.609	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		7	675						7	675	---	---	---	---	G	100245131	-	G	100245130	7	5	73	1	0	1	1	0	0	0	0	0	199	1799	63	0	612	0	ACTL6B	7	100245130	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	7512271	100245130	58893533	74	9067											
RBM28	55131	broad.mit.edu	37	chr7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcatcacgggtcaccGccaagtcaaccttgagctgc	9	16	4	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1249-1251)gCg>gTg		RNA binding motif protein 28							161	166	164					7																	127964701		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964701G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val					RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	p.A417V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			12	1364	-			417			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1250C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG		0.552	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		7	1143	0	0	0	1	0	7	1143					A	127964701	G	A	127964701	3	1	73	1	0	0	0	0	1	0	0	0	13178	1087	38	1	1061	1	RBM28	7	127964701	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	27719571	127964701	31173962	75	9068											
IRF5	3663	broad.mit.edu	37	chr7	128588348	128588348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaagaatggcctgaccGcaaaccccgagagaagaagc	14	10	0	4	rs201569154		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:128588348G>A	ENST00000402030.2	+	8	1289	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	IRF5_ENST00000473745.1_Missense_Mutation_p.R406H|IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	406					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCCTGACCGCAAACCCCGA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20523	0.0		0.001	False		,,,				2504	0.0					ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1216-1218)cGc>cAc		interferon regulatory factor 5							121	120	120					7																	128588348		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588348G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1217G>A	7.37:g.128588348G>A	ENSP00000385352:p.Arg406His					IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000473745.1_Missense_Mutation_p.R406H	p.R406H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			8	1289	+			406					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1217G>A	CCDS5808.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.838	1.190210	0.21954	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.39	-1.38	0.09027	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	1.924310	0.02538	N	0.094301	D	0.87581	0.6213	N	0.25647	0.755	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.73665	-0.3911	10	0.25106	T	0.35	-0.8749	0.5929	0.00731	0.2382:0.1348:0.2381:0.3889	.	320;406;422	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	422;320;406;406;406;396	ENSP00000349770:R422H;ENSP00000419950:R320H;ENSP00000385352:R406H;ENSP00000249375:R406H;ENSP00000419149:R406H	ENSP00000249375:R406H	R	+	2	0	IRF5	128375584	0.000000	0.05858	0.889000	0.34880	0.936000	0.57629	-1.254000	0.02874	-0.263000	0.09378	-0.311000	0.09066	CGC		0.527	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		6	468	0	0	0	1	0	6	468					A	128588348	G	A	128588348	3	1	73	1	0	0	0	0	1	0	0	0	7863	1087	38	1	1291	1	IRF5	7	128588348	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	623647	128588348	30550315	76	9069											
PRSS2	154754	broad.mit.edu	37	chr7	142481251	142481251	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgaacaatgacatcAtgctgatcaagctctccaca	5	11	4	3	rs200856228		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201	140	159					7																	142481251		684	1494	2178			0							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	124	0	0	0	1	0	6	124					C	142481251	A	C	142481251	1	2	73	0	1	0	0	0	0	0	0	0	12664	217	8	4		4	PRSS2	7	142481251	RNA	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	13892903	142481251	16657412	77	9070											
MLL3	58508	broad.mit.edu	37	chr7	151921103	151921103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatagcacaatacctaTcacattgtctacattgcaga	4	9	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:151921103T>C	ENST00000262189.6	-	20	3538	c.3320A>G	c.(3319-3321)gAt>gGt	p.D1107G	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1107G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1107					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAATACCTATCACATTGTCT	0.328																																						ENST00000355193.2																			0											c.(3319-3321)gAt>gGt		lysine (K)-specific methyltransferase 2C							47	43	44					7																	151921103		2203	4298	6501	SO:0001583	missense	58508							g.chr7:151921103T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3320A>G	7.37:g.151921103T>C	ENSP00000262189:p.Asp1107Gly					KMT2C_ENST00000262189.6_Missense_Mutation_p.D1107G	p.D1107G							20	3538	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3320A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.202827	0.58234	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.63913	-0.07;-0.07	5.39	5.39	0.77823	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47852	D	0.000208	T	0.76905	0.4053	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.903;0.998	T	0.79403	-0.1818	10	0.72032	D	0.01	.	10.6261	0.45508	0.1432:0.0:0.0:0.8568	.	1107;168	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1107	ENSP00000262189:D1107G;ENSP00000347325:D1107G	ENSP00000262189:D1107G	D	-	2	0	MLL3	151552036	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.146000	0.71777	2.045000	0.60652	0.528000	0.53228	GAT		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			74	194	0	0	0	1	0	74	194					C	151921103	T	C	151921103	3	2	73	1	0	0	0	0	1	0	0	0	9663	1435	50	4	11575	4	MLL3	7	151921103	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	9439852	151921103	7217560	78	9071											
SLC7A2	6542	broad.mit.edu	37	chr8	17412559	17412559	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagaggcagtcaccagTtgctgccacgttgactgcag	13	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:17412559T>G	ENST00000494857.1	+	8	1413				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Missense_Mutation_p.V427G|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGTCACCAGTTGCTGCCACG	0.458																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1279-1281)gTt>gGt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						165	152	156					8																	17412559		2203	4300	6503	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17412559T>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1195+351T>G	8.37:g.17412559T>G						SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G	p.V427G			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	9	1397	+			388					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1280T>G	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378903	0.82682	.	.	ENSG00000003989	ENST00000470360;ENST00000398090	D;D	0.90955	-2.76;-2.76	5.15	5.15	0.70609	.	0.388539	0.26951	N	0.021677	D	0.87943	0.6305	.	.	.	0.58432	D	0.99999	B	0.33739	0.422	B	0.31245	0.126	D	0.88418	0.3026	9	0.87932	D	0	.	15.2847	0.73819	0.0:0.0:0.0:1.0	.	427	P52569-2	.	G	427	ENSP00000419873:V427G;ENSP00000381164:V427G	ENSP00000381164:V427G	V	+	2	0	SLC7A2	17456851	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.997000	0.88414	2.085000	0.62840	0.377000	0.23210	GTT		0.458	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		208	530	0	0	0	1	0	208	530					G	17412559	T	G	17412559	1	3	73	0	1	0	0	0	0	0	0	0	14747	1725	60	4		4	SLC7A2	8	17412559	Intron	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		17412559	128951463	79	9072											
KCNB2	9312	broad.mit.edu	37	chr8	73848238	73848238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctctcaatacgctgccGgagctgcaggaaacggacga	12	11	2	0	rs535772866		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P216P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATACGCTGCCGGAGCTGCAGG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.0					ENST00000523207.1																			1	Substitution - coding silent(1)	p.P216P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(646-648)ccG>ccA		potassium voltage-gated channel, Shab-related subfamily, member 2							197	184	188					8																	73848238		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848238G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.648G>A	8.37:g.73848238G>A							p.P216P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1236	+	Breast(64;0.137)		216					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.648G>A	CCDS6209.1																																																																																				0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	816	0	0	0	1	0	5	816					A	73848238	G	A	73848238	2	1	73	1	0	0	0	0	0	0	0	1	8043	1103	39	1		1	KCNB2	8	73848238	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	56435679	73848238	72515784	80	9073											
KCNS2	3788	broad.mit.edu	37	chr8	99440425	99440425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagttctacttcgaccGcaaccctgagctcttcccct	9	16	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:99440425G>A	ENST00000287042.4	+	2	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R73H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACTTCGACCGCAACCCTGAG	0.597																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.R73H(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(217-219)cGc>cAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							131	101	111					8																	99440425		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440425G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.218G>A	8.37:g.99440425G>A	ENSP00000287042:p.Arg73His					KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	568	+	Breast(36;2.4e-06)		73					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.218G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.699534	0.88830	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	H	0.96430	3.82	0.53005	D	0.999963	D	0.89917	1.0	D	0.87578	0.998	D	0.98218	1.0476	10	0.87932	D	0	.	19.1824	0.93629	0.0:0.0:1.0:0.0	.	73	Q9ULS6	KCNS2_HUMAN	H	73	ENSP00000287042:R73H;ENSP00000430712:R73H	ENSP00000287042:R73H	R	+	2	0	KCNS2	99509601	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.866000	0.99616	2.523000	0.85059	0.558000	0.71614	CGC		0.597	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		6	587	0	0	0	1	0	6	587					A	99440425	G	A	99440425	3	1	73	1	0	0	0	0	1	0	0	0	8119	1087	38	1	220	1	KCNS2	8	99440425	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	25592187	99440425	46923597	81	9074											
TRMT12	55039	broad.mit.edu	37	chr8	125463327	125463327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgtggaaaagatgccGgatggctcggtggcgctacc	15	11	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:125463327G>A	ENST00000328599.3	+	1	280	c.159G>A	c.(157-159)ccG>ccA	p.P53P	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	53					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGATGCCGGATGGCTCGG	0.557																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(157-159)ccG>ccA		tRNA methyltransferase 12 homolog (S. cerevisiae)							59	60	60					8																	125463327		2203	4300	6503	SO:0001819	synonymous_variant	55039				tRNA processing		methyltransferase activity	g.chr8:125463327G>A	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.159G>A	8.37:g.125463327G>A						TRMT12_ENST00000521443.1_3'UTR	p.P53P	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	280	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		53					Q6PKB9|Q96F21|Q9NWK6	Silent	SNP	ENST00000328599.3	37	c.159G>A	CCDS6349.1																																																																																				0.557	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		5	375	0	0	0	1	0	5	375					A	125463327	G	A	125463327	2	1	73	1	0	0	0	0	0	0	0	1	16617	1103	39	1		1	TRMT12	8	125463327	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	26022902	125463327	20900695	82	9075											
COL22A1	169044	broad.mit.edu	37	chr8	139767411	139767411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacttacccgagctcctgGaggaccgggggcgccttggt	14	13	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:139767411G>A	ENST00000303045.6	-	21	2466	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	674	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			CGAGCTCCTGGAGGACCGGGG	0.567										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(2020-2022)Cca>Tca		collagen, type XXII, alpha 1							72	79	77					8																	139767411		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767411G>A	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.2020C>T	8.37:g.139767411G>A	ENSP00000303153:p.Pro674Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		21	2466	-	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)		674			Collagen-like 4.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2020C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542600	0.45280	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.41;-3.19	4.98	4.98	0.66077	.	0.308551	0.23002	U	0.053079	D	0.95411	0.8510	L	0.58669	1.825	0.50039	D	0.999843	D	0.89917	1.0	D	0.80764	0.994	D	0.94829	0.7994	10	0.51188	T	0.08	.	13.636	0.62223	0.0:0.0:1.0:0.0	.	674	Q8NFW1	COMA1_HUMAN	S	674;674;387	ENSP00000303153:P674S;ENSP00000387655:P674S	ENSP00000303153:P674S	P	-	1	0	COL22A1	139836593	0.996000	0.38824	0.977000	0.42913	0.042000	0.13812	2.770000	0.47662	2.597000	0.87782	0.591000	0.81541	CCA		0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	647	0	0	0	1	0	21	647					A	139767411	G	A	139767411	3	1	73	1	0	0	0	0	1	0	0	0	3690	1174	41	2	3040	2	COL22A1	8	139767411	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	14304084	139767411	6596611	83	9076											
TSTA3	7264	broad.mit.edu	37	chr8	144696605	144696605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggtgaaggtgcagccGtactgctggaagtaggccct	15	10	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144696605G>A	ENST00000425753.2	-	6	586	c.483C>T	c.(481-483)taC>taT	p.Y161Y	TSTA3_ENST00000529064.1_Silent_p.Y161Y	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	161					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGTGCAGCCGTACTGCTGGA	0.657																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(481-483)taC>taT		tissue specific transplantation antigen P35B	NADH(DB00157)						123	113	117					8																	144696605		2201	4300	6501	SO:0001819	synonymous_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696605G>A	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.483C>T	8.37:g.144696605G>A						TSTA3_ENST00000529064.1_Silent_p.Y161Y	p.Y161Y	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	586	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		161					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	37	c.483C>T	CCDS6408.1																																																																																				0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		5	291	0	0	0	1	0	5	291					A	144696605	G	A	144696605	2	1	73	1	0	0	0	0	0	0	0	1	16727	1140	40	1		1	TSTA3	8	144696605	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	4929194	144696605	1667417	84	9077											
EPPK1	83481	broad.mit.edu	37	chr8	144946416	144946416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcgtctacccacagccGctggcctgtgatggggtcca	12	15	1	1	rs371426204		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144946416G>A	ENST00000525985.1	-	2	1077	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W				P58107	EPIPL_HUMAN	epiplakin 1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCACAGCCGCTGGCCTGTG	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1006-1008)Cgg>Tgg		epiplakin 1		G	TRP/ARG	0,3960		0,0,1980	26	31	29		1006	1.9	0	8		29	3,8275		0,3,4136	no	missense	EPPK1	NM_031308.1	101	0,3,6116	AA,AG,GG		0.0362,0.0,0.0245	benign	336/2420	144946416	3,12235	1980	4139	6119	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946416G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1006C>T	8.37:g.144946416G>A	ENSP00000436337:p.Arg336Trp						p.R336W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1077	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		336					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1006C>T		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875370	0.33162	0.0	3.62E-4	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.96	1.85	0.25348	.	.	.	.	.	T	0.76350	0.3975	M	0.88979	2.995	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.70139	-0.4954	9	0.66056	D	0.02	.	2.7639	0.05315	0.0966:0.144:0.485:0.2743	.	336	E9PPU0	.	W	336	ENSP00000436337:R336W	ENSP00000436337:R336W	R	-	1	2	EPPK1	145018404	0.000000	0.05858	0.004000	0.12327	0.830000	0.47004	0.727000	0.25999	0.647000	0.30713	0.511000	0.50034	CGG		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	353	0	0	0	1	0	6	353					A	144946416	G	A	144946416	3	1	73	1	0	0	0	0	1	0	0	0	5208	1086	38	1	6260	1	EPPK1	8	144946416	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	249811	144946416	1417606	85	9078											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y	p.A97V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		38	84	0	0	0	1	0	38	84					A	21971111	G	A	21971111	3	1	73	1	0	0	0	0	1	0	0	0	3170	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		21971111	119242320	86	9079											
FAM75A6	389730	broad.mit.edu	37	chr9	43630642	43630642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacacccatggtgtggaGctgggggcgtttagcgatga	15	9	0	1	rs2808959		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:43630642G>A	ENST00000332857.6	-	1	88	c.60C>T	c.(58-60)agC>agT	p.S20S	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	20					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S20S(1)									ATGGTGTGGAGCTGGGGGCGT	0.473																																						ENST00000332857.6																			1	Substitution - coding silent(1)	p.S20S(1)	endometrium(1)								c.(58-60)agC>agT		SPATA31 subfamily A, member 6																																				SO:0001819	synonymous_variant	389730							g.chr9:43630642G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.60C>T	9.37:g.43630642G>A							p.S20S	NM_001145196.1	NP_001138668.1					1	88	-									Silent	SNP	ENST00000332857.6	37	c.60C>T	CCDS47973.1																																																																																				0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		5	473	0	0	0	1	0	5	473					A	43630642	G	A	43630642	2	1	73	1	0	0	0	0	0	0	0	1	5647	962	34	2		2	FAM75A6	9	43630642	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	21659531	43630642	97582789	87	9080											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147	146	146					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	664	0	0	0	1	0	8	664					A	77354692	G	A	77354692	3	1	73	1	0	0	0	0	1	0	0	0	16643	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	33724050	77354692	63858739	88	9081											
SUSD1	64420	broad.mit.edu	37	chr9	114911537	114911537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtacctgtacaaaaggtGccatcgttgggaatgaatgt	12	6	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:114911537G>T	ENST00000374270.3	-	3	532	c.360C>A	c.(358-360)ggC>ggA	p.G120G	SUSD1_ENST00000374263.3_Silent_p.G120G|SUSD1_ENST00000374264.2_Silent_p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	120						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TACAAAAGGTGCCATCGTTGG	0.468																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(358-360)ggC>ggA		sushi domain containing 1							306	286	293					9																	114911537		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114911537G>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.360C>A	9.37:g.114911537G>T						SUSD1_ENST00000374264.2_Silent_p.G120G|SUSD1_ENST00000374263.3_Silent_p.G120G	p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			3	532	-			120					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.360C>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094271	0.20471	.	.	ENSG00000106868	ENST00000355396	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	T	0.63873	0.2548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62296	-0.6884	4	.	.	.	-25.4964	12.7168	0.57119	0.0814:0.0:0.9186:0.0	.	.	.	.	N	104	.	.	H	-	1	0	SUSD1	113951358	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.281000	0.43452	1.205000	0.43262	0.655000	0.94253	CAC		0.468	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		399	834	1	0	3.56204e-131	1	3.88321e-131	399	834					T	114911537	G	T	114911537	2	4	73	1	0	0	0	0	0	0	0	1	15459	1306	46	3		3	SUSD1	9	114911537	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	37556845	114911537	26301894	89	9082											
AKNA	80709	broad.mit.edu	37	chr9	117099578	117099578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtaggtcctgcaggcGcatagtacctgaggagagaa	15	8	0	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117099578G>A	ENST00000307564.4	-	22	4237	c.4076C>T	c.(4075-4077)gCg>gTg	p.A1359V	AKNA_ENST00000374079.4_Missense_Mutation_p.A304V|AKNA_ENST00000374075.5_Missense_Mutation_p.A1278V|AKNA_ENST00000374088.3_Missense_Mutation_p.A1359V|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.A819V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1359					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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCTGCAGGCGCATAGTACCT	0.637																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4075-4077)gCg>gTg		AT-hook transcription factor							39	42	41					9																	117099578		2203	4299	6502	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099578G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4076C>T	9.37:g.117099578G>A	ENSP00000303769:p.Ala1359Val					AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.A1278V|AKNA_ENST00000223791.3_Missense_Mutation_p.A819V|AKNA_ENST00000374079.4_Missense_Mutation_p.A304V|AKNA_ENST00000374088.3_Missense_Mutation_p.A1359V	p.A1359V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			22	4237	-			1359					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4076C>T	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.924013|1.924013	0.34002|0.34002	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.24908|.	2.47;1.83;2.47;2.24;2.46|.	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	.|.	.|.	.|.	.|.	T|T	0.34774|0.34774	0.0909|0.0909	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.27117|.	0.105;0.168|.	B;B|.	0.21151|.	0.015;0.033|.	T|T	0.27434|0.27434	-1.0074|-1.0074	9|6	0.13108|0.87932	T|D	0.6|0	.|.	7.7356|7.7356	0.28812|0.28812	0.1261:0.0:0.8739:0.0|0.1261:0.0:0.8739:0.0	.|.	1359;1278|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	V|C	1359;304;1359;819;1278|370	ENSP00000303769:A1359V;ENSP00000363192:A304V;ENSP00000363201:A1359V;ENSP00000223791:A819V;ENSP00000363188:A1278V|.	ENSP00000223791:A819V|ENSP00000314538:R370C	A|R	-|-	2|1	0|0	AKNA|AKNA	116139399|116139399	0.019000|0.019000	0.18553|0.18553	0.132000|0.132000	0.22025|0.22025	0.814000|0.814000	0.46013|0.46013	1.760000|1.760000	0.38430|0.38430	1.058000|1.058000	0.40530|0.40530	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.637	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		5	447	0	0	0	1	0	5	447					A	117099578	G	A	117099578	3	1	73	1	0	0	0	0	1	0	0	0	463	1087	38	1	247	1	AKNA	9	117099578	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2188041	117099578	24113853	90	9083											
AKNA	80709	broad.mit.edu	37	chr9	117122000	117122002	+	In_Frame_Del	DEL	TCC	TCC	-													gggagtcacctcccccctctTcctcctcctcctcctctcct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117122000_117122002delTCC	ENST00000307564.4	-	11	2525_2527	c.2364_2366delGGA	c.(2362-2367)gaggaa>gaa	p.788_789EE>E	AKNA_ENST00000374075.5_In_Frame_Del_p.707_708EE>E|AKNA_ENST00000312033.3_In_Frame_Del_p.788_789EE>E|AKNA_ENST00000374088.3_In_Frame_Del_p.788_789EE>E|AKNA_ENST00000223791.3_In_Frame_Del_p.248_249EE>E	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	788	PEST.				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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCccccctcttcctcctcctcct	0.596																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(2362-2367)gaa>ga		AT-hook transcription factor																																				SO:0001651	inframe_deletion	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117122000_117122002delTCC	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.2364_2366delGGA	9.37:g.117122009_117122011delTCC	ENSP00000303769:p.Glu790del					AKNA_ENST00000374088.3_In_Frame_Del_p.EE788del|AKNA_ENST00000374075.5_In_Frame_Del_p.EE707del|AKNA_ENST00000223791.3_In_Frame_Del_p.EE248del|AKNA_ENST00000312033.3_In_Frame_Del_p.EE788del	p.EE788del	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			11	2525_2527	-			788			PEST.		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	In_Frame_Del	DEL	ENST00000307564.4	37	c.2364_2366delGGA	CCDS6805.1																																																																																				0.596	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		8	452						8	452	---	---	---	---	-	117122002	TCC	-	117122000	7	5	73	1	0	1	0	1	0	0	0	0	463	1783	62	0	2001	0	AKNA	9	117122000	In_Frame_Del	DEL	TCC	TCGA-HZ-A77O-01A-11D-A33T-08	22422	117122000	24091431	91	9084											
TNC	3371	broad.mit.edu	37	chr9	117848907	117848907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgctgcagtccacaccgGcaaagccctcatcacataca	6	17	3	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117848907G>A	ENST00000350763.4	-	3	1514	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	368	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						GTCCACACCGGCAAAGCCCTC	0.602																																						ENST00000350763.4																			0				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						c.(1102-1104)gCc>gTc		tenascin C							110	100	103					9																	117848907		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848907G>A		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.1103C>T	9.37:g.117848907G>A	ENSP00000265131:p.Ala368Val					TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V	p.A368V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1514	-			368			EGF-like 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1103C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	5.410	0.260837	0.10239	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96	5.44	4.54	0.55810	EGF-like region, conserved site (2);	0.375062	0.35040	N	0.003489	T	0.04092	0.0114	L	0.35854	1.095	0.09310	N	1	B;B	0.24426	0.103;0.093	B;B	0.26864	0.023;0.074	T	0.34104	-0.9842	10	0.46703	T	0.11	.	9.1964	0.37231	0.0844:0.1504:0.7652:0.0	.	368;368	E9PC84;P24821	.;TENA_HUMAN	V	368	ENSP00000344400:A368V;ENSP00000438152:A368V;ENSP00000344555:A368V;ENSP00000345861:A368V;ENSP00000265131:A368V;ENSP00000339553:A368V;ENSP00000411406:A368V;ENSP00000443478:A368V;ENSP00000442242:A368V	ENSP00000344400:A368V	A	-	2	0	TNC	116888728	0.008000	0.16893	0.002000	0.10522	0.001000	0.01503	1.741000	0.38238	1.412000	0.46977	-0.302000	0.09304	GCC		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	455	0	0	0	1	0	5	455					A	117848907	G	A	117848907	3	1	73	1	0	0	0	0	1	0	0	0	16322	1203	42	2	5606	2	TNC	9	117848907	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	726907	117848907	23364524	92	9085											
DAB2IP	153090	broad.mit.edu	37	chr9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagtaccctgatgaccGcactgcccgcaccctcaccc	9	19	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGATGACCGCACTGCCCGC	0.627																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1636-1638)cGc>cAc		DAB2 interacting protein							165	146	153					9																	124528949		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528949G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1637G>A	9.37:g.124528949G>A	ENSP00000386183:p.Arg546His					DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H	p.R546H			Q5VWQ8	DAB2P_HUMAN			9	1819	+			546			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1637G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.659874	0.88154	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.89826	0.3992	10	0.87932	D	0	.	17.225	0.86967	0.0:0.0:1.0:0.0	.	518	G3XA90	.	H	518;546;455;422	ENSP00000259371:R518H;ENSP00000386183:R546H;ENSP00000362887:R455H;ENSP00000310827:R422H	ENSP00000259371:R518H	R	+	2	0	DAB2IP	123568770	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	9.813000	0.99286	2.364000	0.80123	0.655000	0.94253	CGC		0.627	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		6	795	0	0	0	1	0	6	795					A	124528949	G	A	124528949	3	1	73	1	0	0	0	0	1	0	0	0	4230	1087	38	1	1587	1	DAB2IP	9	124528949	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	6680042	124528949	16684482	93	9086											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aacfs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATGACGACAACCCCCCCGTGT	0.627																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(640-642)aafs		WD repeat domain 5							250	223	232					9																	137019598		2203	4300	6503	SO:0001589	frameshift_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019598delC	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.642delC	9.37:g.137019598delC	ENSP00000351446:p.Asn214fs					WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	10	813	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	214					Q91VA5|Q9NWX7|Q9UGP9	Frame_Shift_Del	DEL	ENST00000358625.3	37	c.642delC	CCDS6981.1																																																																																				0.627	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		12	1554						12	1554	---	---	---	---	-	137019598	C	-	137019598	7	5	73	1	0	1	0	1	0	0	0	0	17357	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-HZ-A77O-01A-11D-A33T-08	12490649	137019598	4193833	94	9087											
C9orf139	401563	broad.mit.edu	37	chr9	139929395	139929395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggggctcgggggttttgCccagaaatgggtcagaacga	16	8	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:139929395C>T	ENST00000314330.2	+	3	1976	c.462C>T	c.(460-462)tgC>tgT	p.C154C	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	154										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGGGTTTTGCCCAGAAATGG	0.622																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(460-462)tgC>tgT		chromosome 9 open reading frame 139							40	51	47					9																	139929395		2201	4290	6491	SO:0001819	synonymous_variant	401563							g.chr9:139929395C>T		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.462C>T	9.37:g.139929395C>T							p.C154C	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1976	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	154					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Silent	SNP	ENST00000314330.2	37	c.462C>T	CCDS7023.1																																																																																				0.622	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		5	535	0	0	0	1	0	5	535					T	139929395	C	T	139929395	2	4	73	1	0	0	0	0	0	0	0	1	2466	747	26	2		2	C9orf139	9	139929395	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2909797	139929395	1284036	95	9088											
FBXO18	84893	broad.mit.edu	37	chr10	5956233	5956233	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattatggcctttgccgGtaagggagcccacatcaggt	12	9	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:5956233G>A	ENST00000362091.4	+	8	1511		c.e8+1		FBXO18_ENST00000379999.5_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCTTTGCCGGTAAGGGAGCC	0.488																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.e9+1		F-box protein, helicase, 18							96	96	96					10																	5956233		2203	4300	6503	SO:0001630	splice_region_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5956233G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1396+1G>A	10.37:g.5956233G>A						FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000379994.1_Splice_Site		NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			9	1653	+								Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Splice_Site	SNP	ENST00000362091.4	37		CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655814	0.29425	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6551	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO18	5996239	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	8.218000	0.89768	2.496000	0.84212	0.561000	0.74099	.		0.488	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	Intron	5	321	0	0	0	1	0	5	321					A	5956233	G	A	5956233	5	1	73	1	0	0	0	0	0	0	1	0	5756	1275	44	2	1589	2	FBXO18	10	5956233	Splice_Site	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		5956233	129578514	96	9089											
MYO3A	53904	broad.mit.edu	37	chr10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-													aacagagtgtatcagactccAaaaaaaatgaataatgtgta							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67	66	67					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	290						8	290	---	---	---	---	-	26462760	A	-	26462760	7	5	73	1	0	1	0	1	0	0	0	0	10117	117	5	0	3677	0	MYO3A	10	26462760	Frame_Shift_Del	DEL	A	TCGA-HZ-A77O-01A-11D-A33T-08	20506527	26462760	109071987	97	9090											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3	rs569602183	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		9	269	1	0	0.00448238	1	0.00456825	9	269					T	51754173	G	T	51754173	3	4	73	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	25291413	51754173	83780574	98	9091											
AGAP6	414189	broad.mit.edu	37	chr10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actattcctcctccattccaTcgactcccagcaccagccag	4	19	0	0	rs368970869		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51768543T>C	ENST00000374056.4	+	7	987	c.589T>C	c.(589-591)Tcg>Ccg	p.S197P	AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	197					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S220P(3)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTCCATTCCATCGACTCCCAG	0.532																																						ENST00000374056.4																			3	Substitution - Missense(3)	p.S220P(3)	endometrium(2)|NS(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(589-591)Tcg>Ccg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768543T>C		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.589T>C	10.37:g.51768543T>C	ENSP00000363168:p.Ser197Pro					AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P	p.S197P			C9IYN2	C9IYN2_HUMAN			7	987	+			220						Missense_Mutation	SNP	ENST00000374056.4	37	c.589T>C		.	.	.	.	.	.	.	.	.	.	.	7.332	0.619129	0.14129	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	T	0.56776	0.44	0.0465	0.0465	0.14256	.	0.149774	0.46145	D	0.000318	T	0.42314	0.1197	M	0.65498	2.005	0.37828	D	0.92861	B	0.14012	0.009	B	0.13407	0.009	T	0.20140	-1.0284	10	0.31617	T	0.26	.	4.565	0.12180	0.0:6.0E-4:0.0:0.9994	.	220	C9IYN2	.	P	220;197	ENSP00000400972:S197P	ENSP00000363168:S220P	S	+	1	0	AGAP6	51438549	1.000000	0.71417	0.059000	0.19551	0.060000	0.15804	3.691000	0.54720	0.115000	0.18071	0.113000	0.15668	TCG		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	454	0	0	0	1	0	5	454					C	51768543	T	C	51768543	3	2	73	1	0	0	0	0	1	0	0	0	372	1435	50	4	688	4	AGAP6	10	51768543	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	14370	51768543	83766204	99	9092											
DMBT1	1755	broad.mit.edu	37	chr10	124377777	124377777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctcaggacacgagtcTtacctgtggagctgccccca	11	15	2	0	rs547970500		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:124377777T>C	ENST00000338354.3	+	38	4855	c.4749T>C	c.(4747-4749)tcT>tcC	p.S1583S	DMBT1_ENST00000368956.2_Silent_p.S955S|DMBT1_ENST00000344338.3_Silent_p.S1573S|DMBT1_ENST00000368909.3_Silent_p.S1583S|DMBT1_ENST00000359586.6_Silent_p.S434S|DMBT1_ENST00000330163.4_Silent_p.S955S|DMBT1_ENST00000368955.3_Silent_p.S1573S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1583	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.			S -> P (in Ref. 2; CAB56155). {ECO:0000305}.	defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACACGAGTCTTACCTGTGGA	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4747-4749)tcT>tcC		deleted in malignant brain tumors 1							107	104	105					10																	124377777		1947	4153	6100	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377777T>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4749T>C	10.37:g.124377777T>C						DMBT1_ENST00000368956.2_Silent_p.S955S|DMBT1_ENST00000359586.6_Silent_p.S434S|DMBT1_ENST00000338354.3_Silent_p.S1583S|DMBT1_ENST00000368955.3_Silent_p.S1573S|DMBT1_ENST00000344338.3_Silent_p.S1573S|DMBT1_ENST00000330163.4_Silent_p.S955S	p.S1583S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			38	4855	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1583	S -> P (in Ref. 2; CAB56155).		SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.4749T>C																																																																																					0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	724	0	0	0	1	0	6	724					C	124377777	T	C	124377777	2	2	73	1	0	0	0	0	0	0	0	1	4593	1596	56	4		4	DMBT1	10	124377777	Silent	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	72609234	124377777	11156970	100	9093											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292	278	283					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	1199	0	0	0	1	0	7	1199					A	129906577	G	A	129906577	3	1	73	1	0	0	0	0	1	0	0	0	9639	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	5528800	129906577	5628170	101	9094											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs188153920	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {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)			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)		TGGGCCCTCCGGGGGGGTGAA	0.587																																						ENST00000299441.3																			0				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						c.(703-705)ggfs		dachsous cadherin-related 1							100	101	101					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662142delG	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.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs						p.R236fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	236			Cadherin 2.		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	c.703delC	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	909						7	909	---	---	---	---	-	6662142	G	-	6662142	7	5	73	1	0	1	0	1	0	0	0	0	4298	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HZ-A77O-01A-11D-A33T-08		6662142	128344374	102	9095											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235268	57235268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagaacaacctcatccGcacgctgcggccaggcacct	9	18	1	1	rs537129988	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:57235268G>A	ENST00000533205.1	+	2	227	c.218G>A	c.(217-219)cGc>cAc	p.R73H	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000335099.3_Missense_Mutation_p.R73H					reticulon 4 receptor-like 2									p.R73H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AACCTCATCCGCACGCTGCGG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18678	0.0		0.0	False		,,,				2504	0.002					ENST00000335099.3																			1	Substitution - Missense(1)	p.R73H(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(217-219)cGc>cAc		reticulon 4 receptor-like 2							186	160	169					11																	57235268		2201	4296	6497	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235268G>A	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.218G>A	11.37:g.57235268G>A	ENSP00000435606:p.Arg73His					RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.R73H	p.R73H	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			2	535	+			73						Missense_Mutation	SNP	ENST00000533205.1	37	c.218G>A		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654652	0.47467	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;D;D	0.83914	4.26;-1.78;-1.78	4.96	4.96	0.65561	.	0.186921	0.22985	N	0.053277	T	0.80486	0.4632	L	0.32530	0.975	0.30119	N	0.805883	P	0.48407	0.91	P	0.48921	0.595	T	0.79172	-0.1913	10	0.49607	T	0.09	.	13.8855	0.63706	0.0:0.153:0.847:0.0	.	73	Q86UN3	R4RL2_HUMAN	H	73	ENSP00000335397:R73H;ENSP00000435606:R73H;ENSP00000378552:R73H	ENSP00000335397:R73H	R	+	2	0	RTN4RL2	56991844	0.548000	0.26473	1.000000	0.80357	0.793000	0.44817	2.710000	0.47169	2.471000	0.83476	0.561000	0.74099	CGC		0.622	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		6	833	0	0	0	1	0	6	833					A	57235268	G	A	57235268	3	1	73	1	0	0	0	0	1	0	0	0	13782	1087	38	1	224	1	RTN4RL2	11	57235268	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	50573126	57235268	77771248	103	9096											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagatgagcttggagcGcacaaaagggtccttcagca	14	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCTTGGAGCGCACAAAAGGG	0.652																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4297-4299)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							133	114	120					11																	64594614		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594614G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4297C>T	11.37:g.64594614G>A	ENSP00000345133:p.Arg1433Cys						p.R1433C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4296	-			1433						Missense_Mutation	SNP	ENST00000342711.5	37	c.4297C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764319	0.69878	.	.	ENSG00000171219	ENST00000342711	T	0.76578	-1.03	4.72	4.72	0.59763	.	0.000000	0.43919	D	0.000518	D	0.87402	0.6168	M	0.82716	2.605	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.88618	0.3161	10	0.87932	D	0	.	10.7952	0.46455	0.0:0.0:0.8108:0.1892	.	1433	Q6DT37	MRCKG_HUMAN	C	1433	ENSP00000345133:R1433C	ENSP00000345133:R1433C	R	-	1	0	CDC42BPG	64351190	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.412000	0.34714	2.352000	0.79861	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		7	698	0	0	0	1	0	7	698					A	64594614	G	A	64594614	3	1	73	1	0	0	0	0	1	0	0	0	3083	1087	38	1	374	1	CDC42BPG	11	64594614	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	7359346	64594614	70411902	104	9097											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	14	15	1	0	rs147615662	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	104	104		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		7	913	0	0	0	1	0	7	913					T	65618619	C	T	65618619	3	4	73	1	0	0	0	0	1	0	0	0	14952	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	1024005	65618619	69387897	105	9098											
TRIM49	57093	broad.mit.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcattctgattcttctcTttccgatacatattacagac	3	11	4	2	rs560492199	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74	79	77					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		5	613	0	0	0	1	0	5	613					C	89531568	T	C	89531568	2	2	73	1	0	0	0	0	0	0	0	1	16577	1606	56	4		4	TRIM49	11	89531568	Silent	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	23912949	89531568	45474948	106	9099											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343151	130343151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggtacagcggcacggGcacagcggtggagagcctgc	18	12	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:130343151G>A	ENST00000299164.2	+	8	2288	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	763	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCGGCACGGGCACAGCGGTG	0.672																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2287-2289)gGc>gAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							62	58	60					11																	130343151		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343151G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2288G>A	11.37:g.130343151G>A	ENSP00000299164:p.Gly763Asp						p.G763D	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2288	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	763			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2288G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608254	0.46527	.	.	ENSG00000166106	ENST00000299164	T	0.48522	0.81	5.91	4.98	0.66077	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.28632	0.0709	N	0.03154	-0.405	0.49130	D	0.999751	B	0.32653	0.379	B	0.37091	0.241	T	0.12941	-1.0528	9	0.13853	T	0.58	.	16.8982	0.86106	0.0:0.1282:0.8718:0.0	.	763	Q8TE58	ATS15_HUMAN	D	763	ENSP00000299164:G763D	ENSP00000299164:G763D	G	+	2	0	ADAMTS15	129848361	1.000000	0.71417	0.901000	0.35422	0.984000	0.73092	2.463000	0.45058	1.475000	0.48197	0.655000	0.94253	GGC		0.672	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		5	504	0	0	0	1	0	5	504					A	130343151	G	A	130343151	3	1	73	1	0	0	0	0	1	0	0	0	260	1203	42	2	2318	2	ADAMTS15	11	130343151	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	40811583	130343151	4663365	107	9100											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		26	546	0	0	0	1	0	26	546					C	3649787	T	C	3649787	3	2	73	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		3649787	130202108	108	9101											
ACSM4	341392	broad.mit.edu	37	chr12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-													tcctttgggaaccatgaagaTttttttccgctaccagacat							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134	130	131					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	1006						8	1006	---	---	---	---	-	7456935	T	-	7456935	7	5	73	1	0	1	0	1	0	0	0	0	186	1493	52	0	10	0	ACSM4	12	7456935	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	3807148	7456935	126394960	109	9102											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		27	110	1	0	4.87955e-14	1	5.23372e-14	27	110					A	25398284	C	A	25398284	3	1	73	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	17941349	25398284	108453611	110	9103											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		10	459						10	459	---	---	---	---	-	46318577	GGT	-	46318575	7	5	73	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-HZ-A77O-01A-11D-A33T-08	20920291	46318575	87533320	111	9104											
MLXIP	22877	broad.mit.edu	37	chr12	122623025	122623025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtacatcaccaagctgcagCaggagagaggccagatgcag	13	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:122623025C>A	ENST00000319080.7	+	14	2443	c.2311C>A	c.(2311-2313)Cag>Aag	p.Q771K	MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCTGCAGCAGGAGAGAGG	0.627																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2311-2313)Cag>Aag		MLX interacting protein							40	47	45					12																	122623025		2185	4279	6464	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122623025C>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2311C>A	12.37:g.122623025C>A	ENSP00000312834:p.Gln771Lys					MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K	p.Q771K			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	14	2443	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	771			Leucine-zipper.			Missense_Mutation	SNP	ENST00000319080.7	37	c.2311C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.385722|5.385722	0.95967|0.95967	.|.	.|.	ENSG00000175727|ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000366272|ENST00000542417	D;D;D|.	0.98345|.	-4.88;-4.88;-4.88|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Helix-loop-helix DNA-binding (3);|.	0.057709|.	0.64402|.	D|.	0.000001|.	T|T	0.74313|0.74313	0.3700|0.3700	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.49799|.	0.622|.	T|T	0.73978|0.73978	-0.3812|-0.3812	9|4	0.27785|.	T|.	0.31|.	-21.0894|-21.0894	18.3685|18.3685	0.90399|0.90399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	771|.	Q9HAP2|.	MLXIP_HUMAN|.	K|R	771;378;242|106	ENSP00000312834:Q771K;ENSP00000440769:Q378K;ENSP00000445891:Q242K|.	ENSP00000312834:Q771K|.	Q|S	+|+	1|3	0|2	MLXIP|MLXIP	121188978|121188978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.634000|7.634000	0.83273|0.83273	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.627	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		6	222	1	0	1	1	1	6	222					A	122623025	C	A	122623025	3	1	73	1	0	0	0	0	1	0	0	0	9677	711	25	3	2365	3	MLXIP	12	122623025	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	76304450	122623025	11228870	112	9105											
C13orf18	80183	broad.mit.edu	37	chr13	46946147	46946147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggatatggggaggtgGccaaaatcccagggcttgtg	15	8	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:46946147G>A	ENST00000429979.1	-	3	1068	c.464C>T	c.(463-465)gCc>gTc	p.A155V	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20V|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155V|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155V|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000480935.1_5'Flank	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	155										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGGAGGTGGCCAAAATCCC	0.507																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(463-465)gCc>gTc		KIAA0226-like							71	69	70					13																	46946147		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946147G>A	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.464C>T	13.37:g.46946147G>A	ENSP00000396935:p.Ala155Val					KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88V|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155V	p.A155V	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	1068	-			155					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.464C>T	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235398	0.22626	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000534925;ENST00000417405;ENST00000439642	T;T;T;T;T;T;T;T;T	0.58506	0.38;0.54;0.48;0.55;0.54;0.48;0.63;0.44;0.33	5.83	1.91	0.25777	.	0.973510	0.08458	N	0.942813	T	0.36580	0.0972	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17852	0.024;0.013;0.003;0.006;0.013	B;B;B;B;B	0.22601	0.04;0.022;0.003;0.008;0.022	T	0.31806	-0.9930	10	0.59425	D	0.04	-1.9327	5.9517	0.19250	0.0743:0.2475:0.5512:0.1271	.	155;155;155;88;155	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	V	155;155;155;88;155;155;20;20;155	ENSP00000368057:A155V;ENSP00000396935:A155V;ENSP00000368074:A155V;ENSP00000368061:A88V;ENSP00000374558:A155V;ENSP00000368064:A155V;ENSP00000437501:A20V;ENSP00000402357:A20V;ENSP00000414579:A155V	ENSP00000368057:A155V	A	-	2	0	KIAA0226L	45844148	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.370000	0.20433	0.105000	0.17753	-1.854000	0.00565	GCC		0.507	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		4	231	0	0	0	1	0	4	231					A	46946147	G	A	46946147	3	1	73	1	0	0	0	0	1	0	0	0	1725	1203	42	2	1576	2	C13orf18	13	46946147	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		46946147	68223731	113	9106											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		14	706						14	706	---	---	---	---	T	60582734	-	T	60582733	7	5	73	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	13636586	60582733	54587145	114	9107											
KDELC1	79070	broad.mit.edu	37	chr13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-													ggatgtttgaattggatttcTttttttccaaaggccagtct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(730-732)agfs		KDEL (Lys-Asp-Glu-Leu) containing 1							203	218	213					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	79070					endoplasmic reticulum lumen		g.chr13:103443722delT	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs					KDELC1_ENST00000460338.1_5'UTR	p.K245fs	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1067	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		245					Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	ENST00000376004.4	37	c.731delA	CCDS9504.1																																																																																				0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			7	1616						7	1616	---	---	---	---	-	103443722	T	-	103443722	7	5	73	1	0	1	0	1	0	0	0	0	8147	1609	56	0	801	0	KDELC1	13	103443722	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	42860989	103443722	11726156	115	9108											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			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)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				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						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	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.chr13:111862267G>A	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.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	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)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		10	1188	0	0	0	1	0	10	1188					A	111862267	G	A	111862267	3	1	73	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	8418545	111862267	3307611	116	9109											
OR4K17	390436	broad.mit.edu	37	chr14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacccttgcttcttttgCcacccctaaggtgattctga	7	12	2	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398																																						ENST00000315543.4																			1	Substitution - Missense(1)	p.A108V(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(322-324)gCc>gTc		olfactory receptor, family 4, subfamily K, member 17							161	168	166					14																	20585888		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585888C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.323C>T	14.37:g.20585888C>T	ENSP00000319197:p.Ala108Val						p.A108V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	323	+	all_cancers(95;0.00108)		80					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.323C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	9.977	1.226987	0.22542	.	.	ENSG00000176230	ENST00000315543	T	0.00597	6.31	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.246509	0.20479	U	0.091527	T	0.00384	0.0012	N	0.04260	-0.245	0.24184	N	0.995571	B	0.06786	0.001	B	0.10450	0.005	T	0.47315	-0.9127	10	0.49607	T	0.09	.	8.9177	0.35592	0.0:0.8792:0.0:0.1208	.	80	Q8NGC6	OR4KH_HUMAN	V	108	ENSP00000319197:A108V	ENSP00000319197:A108V	A	+	2	0	OR4K17	19655728	0.000000	0.05858	0.997000	0.53966	0.547000	0.35210	0.338000	0.19858	0.509000	0.28195	0.404000	0.27445	GCC		0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			7	1215	0	0	0	1	0	7	1215					T	20585888	C	T	20585888	3	4	73	1	0	0	0	0	1	0	0	0	11113	739	26	2	325	2	OR4K17	14	20585888	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		20585888	86763652	117	9110											
TEP1	7011	broad.mit.edu	37	chr14	20841276	20841276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagccacagcagtgacgGctgcagaactccttggtata	10	13	0	2	rs370861793		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:20841276G>A	ENST00000262715.5	-	48	6885	c.6845C>T	c.(6844-6846)gCc>gTc	p.A2282V	TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V|TEP1_ENST00000545983.1_Missense_Mutation_p.A620V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2282					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCAGTGACGGCTGCAGAACT	0.512																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6844-6846)gCc>gTc		telomerase-associated protein 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71	69	69		6845	4.6	0.9	14		69	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2282/2628	20841276	1,13005	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841276G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6845C>T	14.37:g.20841276G>A	ENSP00000262715:p.Ala2282Val					TEP1_ENST00000545983.1_Missense_Mutation_p.A620V|TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V	p.A2282V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6885	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2282					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6845C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083157	0.36758	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.17;2.17;-1.45	5.47	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.722991	0.13739	N	0.366119	T	0.73466	0.3590	L	0.50333	1.59	0.41394	D	0.987636	B;B;B;B	0.18166	0.007;0.018;0.026;0.011	B;B;B;B	0.19946	0.005;0.027;0.015;0.012	T	0.63786	-0.6558	10	0.11182	T	0.66	-5.363	10.9068	0.47084	0.0886:0.0:0.9114:0.0	.	620;2174;1625;2282	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	2282;2282;2174;620	ENSP00000262715:A2282V;ENSP00000452574:A2174V;ENSP00000438849:A620V	ENSP00000262715:A2282V	A	-	2	0	TEP1	19911116	0.974000	0.33945	0.948000	0.38648	0.818000	0.46254	1.121000	0.31283	1.416000	0.47057	0.655000	0.94253	GCC		0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	501	0	0	0	1	0	5	501					A	20841276	G	A	20841276	3	1	73	1	0	0	0	0	1	0	0	0	15811	1203	42	2	1070	2	TEP1	14	20841276	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	255388	20841276	86508264	118	9111											
FERMT2	10979	broad.mit.edu	37	chr14	53339633	53339633	+	Frame_Shift_Del	DEL	T	T	-													tgtaacctttcagagtcagcTtttttggcctatgtatcaaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:53339633delT	ENST00000395631.2	-	10	1373	c.1157delA	c.(1156-1158)aagfs	p.K386fs	FERMT2_ENST00000341590.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000553373.1_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000343279.4_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000399304.3_Frame_Shift_Del_p.K386fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	386	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAGAGTCAGCTTTTTTGGCCT	0.343																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1156-1158)agfs		fermitin family member 2							146	132	137					14																	53339633		2203	4300	6503	SO:0001589	frameshift_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53339633delT	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1157delA	14.37:g.53339633delT	ENSP00000378993:p.Lys386fs					FERMT2_ENST00000399304.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000341590.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000553373.1_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000343279.4_Frame_Shift_Del_p.K386fs	p.K386fs			Q96AC1	FERM2_HUMAN			10	1373	-	Breast(41;0.0342)		386			FERM.|PH.		B5TJY2|Q14840|Q86TY7	Frame_Shift_Del	DEL	ENST00000395631.2	37	c.1157delA	CCDS9713.1																																																																																				0.343	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		7	496						7	496	---	---	---	---	-	53339633	T	-	53339633	7	5	73	1	0	1	0	1	0	0	0	0	5843	1609	56	0	946	0	FERMT2	14	53339633	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	32498357	53339633	54009907	119	9112											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	10	377						10	377	---	---	---	---	A	75601712	-	A	75601711	8	5	73	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	22262078	75601711	31747829	120	9113											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		8	242						8	242	---	---	---	---	-	93397926	GAG	-	93397924	7	5	73	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-HZ-A77O-01A-11D-A33T-08	17796213	93397924	13951616	121	9114											
ASB2	51676	broad.mit.edu	37	chr14	94417346	94417346	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacccttagccactcaccGtacttggctaagaacctcaa	8	14	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:94417346G>A	ENST00000315988.4	-	4	1223	c.735C>T	c.(733-735)taC>taT	p.Y245Y	ASB2_ENST00000555019.1_Splice_Site_p.Y293Y|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	245					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCACTCACCGTACTTGGCTA	0.577																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.e6+1		ankyrin repeat and SOCS box containing 2							222	216	218					14																	94417346		2203	4300	6503	SO:0001630	splice_region_variant	51676				intracellular signal transduction			g.chr14:94417346G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.736+1C>T	14.37:g.94417346G>A						ASB2_ENST00000315988.4_Splice_Site_p.Y245_splice|ASB2_ENST00000556337.1_Intron	p.Y293_splice	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1309	-		all_cancers(154;0.13)	245					B2RDP9|B4E166|Q9NSU5|Q9Y567	Splice_Site	SNP	ENST00000315988.4	37	c.880_splice	CCDS9915.1																																																																																				0.577	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		Silent	8	1504	0	0	0	1	0	8	1504					A	94417346	G	A	94417346	5	1	73	1	0	0	0	0	0	0	1	0	1024	1159	40	1	1048	1	ASB2	14	94417346	Splice_Site	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1019422	94417346	12932194	122	9115											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G													atgggtccccagccatcggcINSgggtgaacccacccacactg							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		9	406						9	406	---	---	---	---	G	105174271	-	G	105174270	7	5	73	1	0	1	1	0	0	0	0	0	7764	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	10756924	105174270	2175270	123	9116											
AKT1	207	broad.mit.edu	37	chr14	105239615	105239615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtactcaggtgtgccGcaaaaggtcttcatggtggc	14	10	3	0	rs146847196		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:105239615G>A	ENST00000554581.1	-	9	2410	c.930C>T	c.(928-930)tgC>tgT	p.C310C	AKT1_ENST00000555458.1_Silent_p.C5C|AKT1_ENST00000554192.1_Silent_p.C30C|AKT1_ENST00000544168.1_Silent_p.C248C|AKT1_ENST00000402615.2_Silent_p.C310C|AKT1_ENST00000349310.3_Silent_p.C310C|AKT1_ENST00000407796.2_Silent_p.C310C|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554848.1_Silent_p.C310C|AKT1_ENST00000555528.1_Silent_p.C310C			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CAGGTGTGCCGCAAAAGGTCT	0.602		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(928-930)tgC>tgT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	A	,,	1,4405	2.1+/-5.4	0,1,2202	165	113	131		930,930,930	-3.2	0.9	14	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	310/481,310/481,310/481	105239615	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239615G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.930C>T	14.37:g.105239615G>A						AKT1_ENST00000554192.1_Silent_p.C30C|AKT1_ENST00000555528.1_Silent_p.C310C|AKT1_ENST00000555458.1_Silent_p.C5C|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000544168.1_Silent_p.C248C|AKT1_ENST00000554848.1_Silent_p.C310C|AKT1_ENST00000407796.2_Silent_p.C310C|AKT1_ENST00000402615.2_Silent_p.C310C|AKT1_ENST00000349310.3_Silent_p.C310C	p.C310C			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	9	2410	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	310			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.930C>T	CCDS9994.1																																																																																				0.602	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		5	251	0	0	0	1	0	5	251					A	105239615	G	A	105239615	2	1	73	1	0	0	0	0	0	0	0	1	478	1079	38	1		1	AKT1	14	105239615	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	65345	105239615	2109925	124	9117											
EIF3J	8669	broad.mit.edu	37	chr15	44829395	44829397	+	Start_Codon_Del	DEL	GGC	GGC	-													gctcacacccggctcgagatGgcggcggcggcggcggcggc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:44829395_44829397delGGC	ENST00000535391.1	+	0	15_17				EIF3J_ENST00000424492.3_Start_Codon_Del|EIF3J_ENST00000261868.5_Start_Codon_Del|EIF3J-AS1_ENST00000313807.4_lincRNA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGCTCGAGATggcggcggcggcg	0.719																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9								eukaryotic translation initiation factor 3, subunit J				1,1,72,3298		0,0,0,1,0,0,1,8,56,1620						4.4	1			13	26,28,170,6976		4,0,0,18,1,0,26,11,148,3392	no	codingComplex	EIF3J	NM_003758.2		4,0,0,19,1,0,27,19,204,5012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.1111,2.1945,2.8188				27,29,242,10274				SO:0001582	initiator_codon_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829395_44829397delGGC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44829404_44829406delGGC						EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del		NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	0	141_143	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)							Translation_Start_Site	DEL	ENST00000535391.1	37																																																																																						0.719	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		8	122						8	122	---	---	---	---	-	44829397	GGC	-	44829395	7	5	73	1	0	1	0	1	0	0	0	0	5038	1348	47	0	5	0	EIF3J	15	44829395	Start_Codon_Del	DEL	GGC	TCGA-HZ-A77O-01A-11D-A33T-08		44829395	57701997	125	9118											
FGF7	2252	broad.mit.edu	37	chr15	49776611	49776611	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacggaggggaaatgtttgtTgccttaaatcaaaaggggat	13	4	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAATGTTTGTTGCCTTAAATC	0.358																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.V165V(1)	lung(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(493-495)gtT>gtG		fibroblast growth factor 7	Palifermin(DB00039)						38	37	38					15																	49776611		2027	3862	5889	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776611T>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.495T>G	15.37:g.49776611T>G						FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	p.V165V	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1106	+		all_lung(180;0.00391)	165					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.495T>G	CCDS10131.1																																																																																				0.358	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		8	292	0	0	0	1	0	8	292					G	49776611	T	G	49776611	2	3	73	1	0	0	0	0	0	0	0	1	5882	1799	63	4		4	FGF7	15	49776611	Silent	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	4947216	49776611	52754781	126	9119											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954612	72954612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaagcccccatccctggcGcccccagcagtgacctctgt	9	19	1	1	rs201791007		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						ENST00000421285.3																			1	Substitution - coding silent(1)	p.A289A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(865-867)gcG>gcA		golgin A6 family, member B							32	31	32					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A							p.A289A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	867	+			289					A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	262	0	0	0	1	0	5	262					A	72954612	G	A	72954612	2	1	73	1	0	0	0	0	0	0	0	1	6587	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	23178001	72954612	29576780	127	9120											
SIN3A	25942	broad.mit.edu	37	chr15	75684712	75684712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcttgggaacaaatccGtagcagcctcaggcagagaa	12	10	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:75684712G>A	ENST00000394947.3	-	15	3036	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAACAAATCCGTAGCAGCCTC	0.453																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2722-2724)Cgg>Tgg		SIN3 transcription regulator family member A							132	126	128					15																	75684712		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684712G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2722C>T	15.37:g.75684712G>A	ENSP00000378402:p.Arg908Trp					SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W	p.R908W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3036	-			908						Missense_Mutation	SNP	ENST00000394947.3	37	c.2722C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178429	0.78564	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.6	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.66712	-0.5854	10	0.72032	D	0.01	-24.3297	16.3591	0.83246	0.0:0.0:0.8595:0.1405	.	908	Q96ST3	SIN3A_HUMAN	W	908	ENSP00000378402:R908W;ENSP00000378403:R908W;ENSP00000353622:R908W	ENSP00000353622:R908W	R	-	1	2	SIN3A	73471765	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	3.068000	0.50018	2.644000	0.89710	0.655000	0.94253	CGG		0.453	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		5	654	0	0	0	1	0	5	654					A	75684712	G	A	75684712	3	1	73	1	0	0	0	0	1	0	0	0	14375	1144	40	1	1127	1	SIN3A	15	75684712	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2730100	75684712	26846680	128	9121											
FBXO22	26263	broad.mit.edu	37	chr15	76196872	76196872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtgcgcagagtattgCggacccatcggagcgtaacc	14	10	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:76196872C>T	ENST00000308275.3	+	2	286	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FBXO22_ENST00000453211.2_Missense_Mutation_p.R61W|FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	61	F-box.				cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTATTGCGGACCCATCG	0.612																																						ENST00000308275.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(181-183)Cgg>Tgg		F-box protein 22							142	120	128					15																	76196872		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76196872C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.181C>T	15.37:g.76196872C>T	ENSP00000307833:p.Arg61Trp					FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.R61W	p.R61W	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN			2	286	+			61			F-box.		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.181C>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195308	0.78902	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	T	0.23754	1.89	4.07	3.07	0.35406	F-box domain, cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.15350	-1.0440	10	0.87932	D	0	-15.7903	10.6956	0.45896	0.2919:0.7081:0.0:0.0	.	61;61	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	W	61	ENSP00000307833:R61W	ENSP00000307833:R61W	R	+	1	2	FBXO22	73983927	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	2.157000	0.42320	2.250000	0.74265	0.563000	0.77884	CGG		0.612	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		5	667	0	0	0	1	0	5	667					T	76196872	C	T	76196872	3	4	73	1	0	0	0	0	1	0	0	0	5759	759	27	1	187	1	FBXO22	15	76196872	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	512160	76196872	26334520	129	9122											
BLM	641	broad.mit.edu	37	chr15	91304138	91304139	+	Frame_Shift_Ins	INS	-	-	A													gctgaaacaccaagactaggINSaaaaaaaaatgaaagctctt					rs367543043		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:91304138_91304139insA	ENST00000355112.3	+	7	1653_1654	c.1535_1536insA	c.(1534-1539)ggaaaafs	p.GK512fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.GK512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	512	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.N515fs*16(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCAAGACTAGGAAAAAAAAATG	0.371			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			1	Deletion - Frameshift(1)	p.N515fs*16(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1534-1536)gaafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like																																				SO:0001589	frameshift_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304138_91304139insA	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1544dupA	15.37:g.91304147_91304147dupA	ENSP00000347232:p.Gly512fs					BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs	p.E512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1653_1654	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		512					Q52M96	Frame_Shift_Ins	INS	ENST00000355112.3	37	c.1535_1536insA	CCDS10363.1																																																																																				0.371	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	439						8	439	---	---	---	---	A	91304139	-	A	91304138	7	5	73	1	0	1	1	0	0	0	0	0	1447	1174	41	0	1557	0	BLM	15	91304138	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	15107266	91304138	11227254	130	9123											
FURIN	5045	broad.mit.edu	37	chr15	91420170	91420170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaggcggcctgggcGcagggctacacagggcacgg	18	10	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:91420170G>A	ENST00000268171.3	+	5	696	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	139					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGGCCTGGGCGCAGGGCTACA	0.567																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(415-417)gcG>gcA		furin (paired basic amino acid cleaving enzyme)							116	101	106					15																	91420170		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91420170G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.417G>A	15.37:g.91420170G>A							p.A139A	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		5	696	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		139					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.417G>A	CCDS10364.1																																																																																				0.567	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		5	618	0	0	0	1	0	5	618					A	91420170	G	A	91420170	2	1	73	1	0	0	0	0	0	0	0	1	6126	1074	38	1		1	FURIN	15	91420170	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	116032	91420170	11111222	131	9124											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812947	1812947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcttcagccagcgccGcaaccatgccatgtgcccga	11	17	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:1812947G>A	ENST00000250894.4	+	16	1992	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R606H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	612					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCCAGCGCCGCAACCATGCC	0.652																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1834-1836)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 3							58	71	67					16																	1812947		2009	4178	6187	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812947G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1835G>A	16.37:g.1812947G>A	ENSP00000250894:p.Arg612His					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R606H	p.R612H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	1992	+			612					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1835G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715755	0.68844	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34667	1.35;1.35	5.37	4.42	0.53409	.	0.107337	0.64402	D	0.000003	T	0.47154	0.1430	M	0.65498	2.005	0.80722	D	1	B;B;P	0.51147	0.081;0.045;0.942	B;B;P	0.49999	0.069;0.018;0.628	T	0.52555	-0.8560	10	0.72032	D	0.01	-25.222	13.7114	0.62670	0.0754:0.0:0.9246:0.0	.	613;606;612	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	H	612;606	ENSP00000250894:R612H;ENSP00000348290:R606H	ENSP00000250894:R612H	R	+	2	0	MAPK8IP3	1752948	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	9.310000	0.96267	1.267000	0.44247	0.561000	0.74099	CGC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	778	0	0	0	1	0	6	778					A	1812947	G	A	1812947	3	1	73	1	0	0	0	0	1	0	0	0	9327	1087	38	1	1913	1	MAPK8IP3	16	1812947	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		1812947	88541806	132	9125											
ADCY9	115	broad.mit.edu	37	chr16	4016765	4016765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtctgcctggtcccGcatgctctggatcttggtgc	12	14	3	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:4016765G>A	ENST00000294016.3	-	11	3611	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1025					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCTGGTCCCGCATGCTCTGG	0.577																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3073-3075)Cgg>Tgg		adenylate cyclase 9							151	131	138					16																	4016765		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016765G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3073C>T	16.37:g.4016765G>A	ENSP00000294016:p.Arg1025Trp						p.R1025W	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3611	-			1025					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3073C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090001	0.55968	.	.	ENSG00000162104	ENST00000294016	D	0.84873	-1.91	5.52	0.205	0.15204	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	L	0.58101	1.795	0.49483	D	0.999795	D	0.89917	1.0	D	0.91635	0.999	D	0.90009	0.4120	10	0.87932	D	0	.	18.4251	0.90606	0.0:0.0:0.7116:0.2884	.	1025	O60503	ADCY9_HUMAN	W	1025	ENSP00000294016:R1025W	ENSP00000294016:R1025W	R	-	1	2	ADCY9	3956766	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	0.692000	0.25482	-0.162000	0.10964	-0.467000	0.05162	CGG		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	871	0	0	0	1	0	6	871					A	4016765	G	A	4016765	3	1	73	1	0	0	0	0	1	0	0	0	301	1086	38	1	992	1	ADCY9	16	4016765	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2203818	4016765	86337988	133	9126											
COQ7	10229	broad.mit.edu	37	chr16	19089416	19089416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacaggctccagcctatgCcgtcctgaagagcattatcc	8	13	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:19089416C>T	ENST00000321998.5	+	6	656	c.590C>T	c.(589-591)gCc>gTc	p.A197V	COQ7_ENST00000544894.2_Missense_Mutation_p.A159V|COQ7_ENST00000569127.1_Missense_Mutation_p.A174V|COQ7_ENST00000568985.1_Missense_Mutation_p.A197V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	197	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CCAGCCTATGCCGTCCTGAAG	0.418																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(589-591)gCc>gTc		coenzyme Q7 homolog, ubiquinone (yeast)							98	91	93					16																	19089416		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19089416C>T	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.590C>T	16.37:g.19089416C>T	ENSP00000322316:p.Ala197Val					COQ7_ENST00000568985.1_Missense_Mutation_p.A197V|COQ7_ENST00000569127.1_Missense_Mutation_p.A174V|COQ7_ENST00000544894.2_Missense_Mutation_p.A159V	p.A197V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			6	656	+			197			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.590C>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384116	0.25031	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.43294	0.95;0.95	5.43	1.13	0.20643	.	1.184410	0.05552	N	0.567563	T	0.32224	0.0822	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.22800	-1.0206	10	0.29301	T	0.29	-8.3605	5.8507	0.18691	0.0:0.5888:0.1268:0.2844	.	174;197	Q49A71;Q99807	.;COQ7_HUMAN	V	197;159	ENSP00000322316:A197V;ENSP00000442923:A159V	ENSP00000322316:A197V	A	+	2	0	COQ7	18996917	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	0.101000	0.15251	0.241000	0.21283	-0.150000	0.13652	GCC		0.418	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		4	210	0	0	0	1	0	4	210					T	19089416	C	T	19089416	3	4	73	1	0	0	0	0	1	0	0	0	3759	739	26	2	612	2	COQ7	16	19089416	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	15072651	19089416	71265337	134	9127											
DNAH3	55567	broad.mit.edu	37	chr16	21011731	21011731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtgatggctgatttgCcagtgcctgtgggacccacg	15	9	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:21011731C>T	ENST00000261383.3	-	43	6235	c.6236G>A	c.(6235-6237)gGc>gAc	p.G2079D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2079	AAA 3. {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)			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)		GGCTGATTTGCCAGTGCCTGT	0.498																																						ENST00000261383.3																			0				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						c.(6235-6237)gGc>gAc		dynein, axonemal, heavy chain 3							217	180	192					16																	21011731		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.chr16:21011731C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6236G>A	16.37:g.21011731C>T	ENSP00000261383:p.Gly2079Asp					DNAH3_ENST00000415178.1_3'UTR	p.G2079D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6235	-			2079			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6236G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032588	0.93575	.	.	ENSG00000158486	ENST00000261383	D	0.92099	-2.97	5.52	5.52	0.82312	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.87932	D	0	.	19.8041	0.96521	0.0:1.0:0.0:0.0	.	2079	Q8TD57	DYH3_HUMAN	D	2079	ENSP00000261383:G2079D	ENSP00000261383:G2079D	G	-	2	0	DNAH3	20919232	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.516000	0.81772	2.756000	0.94617	0.563000	0.77884	GGC		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	356	0	0	0	1	0	5	356					T	21011731	C	T	21011731	3	4	73	1	0	0	0	0	1	0	0	0	4619	739	26	2	6193	2	DNAH3	16	21011731	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	1922315	21011731	69343022	135	9128											
CES2	51647	broad.mit.edu	37	chr16	66969542	66969542	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccagcgagccgaccatgCggctgcacagacttcgtgcg	13	14	0	2	rs151081443		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:66969542C>T	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.R66W|CES2_ENST00000417689.1_Missense_Mutation_p.R66W	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCGACCATGCGGCTGCACAG	0.697																																						ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(196-198)Cgg>Tgg		carboxylesterase 2							58	67	64					16																	66969542		2200	4299	6499	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969542C>T		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969542C>T	Exception_encountered					CES2_ENST00000417689.1_Missense_Mutation_p.R66W	p.R66W	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1180	+		Ovarian(137;0.0563)	2						Missense_Mutation	SNP	ENST00000422424.2	37	c.196C>T	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721415	0.68959	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.68025	-0.3;-0.3	4.36	-6.52	0.01872	.	.	.	.	.	T	0.44329	0.1288	N	0.08118	0	0.09310	N	0.999997	D;D	0.65815	0.995;0.995	P;P	0.51657	0.676;0.676	T	0.41360	-0.9513	9	0.56958	D	0.05	.	0.4286	0.00467	0.3124:0.2919:0.1368:0.2589	.	2;66	O00748;A8K367	EST2_HUMAN;.	W	66	ENSP00000394452:R66W;ENSP00000317842:R66W	ENSP00000317842:R66W	R	+	1	2	CES2	65527043	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.252000	0.00539	-1.317000	0.02292	-0.140000	0.14226	CGG		0.697	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		8	893	0	0	0	1	0	8	893					T	66969542	C	T	66969542	1	4	73	0	1	0	0	0	0	0	0	0	3279	759	27	1		1	CES2	16	66969542	5'Flank	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	45957811	66969542	23385211	136	9129											
NQO1	1728	broad.mit.edu	37	chr16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatatcacaaggtctgCggcttccagcttcttttgtt	9	10	3	0	rs541026990	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174	182	180					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			6	992	0	0	0	1	0	6	992					T	69752046	C	T	69752046	3	4	73	1	0	0	0	0	1	0	0	0	10653	768	27	1	557	1	NQO1	16	69752046	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2782504	69752046	20602707	137	9130											
ZFHX3	463	broad.mit.edu	37	chr16	72821425	72821425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagactgcgaggtagatgCggtgctaggatcggggaagc	19	7	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:72821425C>T	ENST00000268489.5	-	10	11422	c.10750G>A	c.(10750-10752)Gca>Aca	p.A3584T	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2670T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3584					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)			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)				GAGGTAGATGCGGTGCTAGGA	0.612																																						ENST00000268489.5																			0				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						c.(10750-10752)Gca>Aca		zinc finger homeobox 3							290	224	246					16																	72821425		2198	4300	6498	SO:0001583	missense	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.chr16:72821425C>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.10750G>A	16.37:g.72821425C>T	ENSP00000268489:p.Ala3584Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2670T	p.A3584T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11422	-		Ovarian(137;0.13)	3584					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10750G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406520	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.30448	1.53;1.53	3.95	3.95	0.45737	.	0.000000	0.49916	D	0.000136	T	0.12518	0.0304	N	0.05441	-0.05	0.80722	D	1	B	0.32507	0.373	B	0.16289	0.015	T	0.13575	-1.0504	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3584	Q15911	ZFHX3_HUMAN	T	3584;2670	ENSP00000268489:A3584T;ENSP00000438926:A2670T	ENSP00000268489:A3584T	A	-	1	0	ZFHX3	71378926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.471000	0.35365	1.914000	0.55421	0.557000	0.71058	GCA		0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	733	0	0	0	1	0	9	733					T	72821425	C	T	72821425	3	4	73	1	0	0	0	0	1	0	0	0	17687	768	27	1	365	1	ZFHX3	16	72821425	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	3069379	72821425	17533328	138	9131											
PRPF8	10594	broad.mit.edu	37	chr17	1577073	1577073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcatgaggcgcatgcggGcatctcggggccagcacttc	14	12	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:1577073G>A	ENST00000572621.1	-	21	3678	c.3413C>T	c.(3412-3414)gCc>gTc	p.A1138V	PRPF8_ENST00000304992.6_Missense_Mutation_p.A1138V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1138	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCGCATGCGGGCATCTCGGGG	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3412-3414)gCc>gTc		pre-mRNA processing factor 8							173	160	164					17																	1577073		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577073G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3413C>T	17.37:g.1577073G>A	ENSP00000460348:p.Ala1138Val					PRPF8_ENST00000304992.6_Missense_Mutation_p.A1138V	p.A1138V			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3678	-			1138					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3413C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512129	0.85389	.	.	ENSG00000174231	ENST00000304992	D	0.81821	-1.54	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.81942	2.565	0.80722	D	1	B	0.27117	0.168	B	0.34489	0.184	D	0.83667	0.0164	10	0.72032	D	0.01	.	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1138	Q6P2Q9	PRP8_HUMAN	V	1138	ENSP00000304350:A1138V	ENSP00000304350:A1138V	A	-	2	0	PRPF8	1523823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	2.833000	0.97629	0.585000	0.79938	GCC		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	582	0	0	0	1	0	5	582					A	1577073	G	A	1577073	3	1	73	1	0	0	0	0	1	0	0	0	12622	1203	42	2	3682	2	PRPF8	17	1577073	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		1577073	79618137	139	9132											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	17	4	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7578550G>A	ENST00000269305.4	-	5	569	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000420246.2_Missense_Mutation_p.S127F|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		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)	ENST00000420246.2		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"		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(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						c.(379-381)tCc>tTc	Other conserved DNA damage response genes	tumor protein p53							44	44	44					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>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.380C>T	17.37:g.7578550G>A	ENSP00000269305:p.Ser127Phe	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_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F	p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	512	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.380C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338648	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	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	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127F;ENSP00000352610:S127F;ENSP00000269305:S127F;ENSP00000398846:S127F;ENSP00000391127:S127F;ENSP00000391478:S127F;ENSP00000423862:S34F;ENSP00000424104:S127F;ENSP00000426252:S127F	ENSP00000269305:S127F	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	104	0	0	0	1	0	58	104					A	7578550	G	A	7578550	3	1	73	1	0	0	0	0	1	0	0	0	16434	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	6001477	7578550	73616660	140	9133											
CHD3	1107	broad.mit.edu	37	chr17	7810228	7810228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcgttggtcaatgccGgaactgatgcctgaccccag	13	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7810228G>A	ENST00000330494.7	+	30	4695	c.4545G>A	c.(4543-4545)ccG>ccA	p.P1515P	CHD3_ENST00000380358.4_Silent_p.P1574P|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.P1515P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1515P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGTCAATGCCGGAACTGATGC	0.587																																						ENST00000380358.4																			1	Substitution - coding silent(1)	p.P1515P(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4720-4722)ccG>ccA		chromodomain helicase DNA binding protein 3							125	124	124					17																	7810228		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7810228G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4545G>A	17.37:g.7810228G>A						CHD3_ENST00000358181.4_Silent_p.P1515P|CHD3_ENST00000330494.7_Silent_p.P1515P	p.P1574P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			30	4723	+		Prostate(122;0.202)	1515			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4722G>A	CCDS32554.1																																																																																				0.587	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	684	0	0	0	1	0	6	684					A	7810228	G	A	7810228	2	1	73	1	0	0	0	0	0	0	0	1	3335	1103	39	1		1	CHD3	17	7810228	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	231678	7810228	73384982	141	9134											
FOXN1	8456	broad.mit.edu	37	chr17	26851719	26851719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttggctttgaggaggccGcagcaagcagccctgggcga	16	11	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:26851719G>A	ENST00000226247.2	+	2	351	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	108					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGAGGAGGCCGCAGCAAGCAG	0.667																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(322-324)Gca>Aca		forkhead box N1							25	27	26					17																	26851719		2202	4298	6500	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851719G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.322G>A	17.37:g.26851719G>A	ENSP00000226247:p.Ala108Thr					FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	351	+	Lung NSC(42;0.00431)		108					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.322G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775438	0.49786	.	.	ENSG00000109101	ENST00000226247	D	0.91894	-2.93	5.49	0.553	0.17235	.	0.444607	0.23141	N	0.051470	T	0.76969	0.4062	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63479	-0.6628	10	0.18276	T	0.48	.	6.5115	0.22224	0.117:0.3429:0.4602:0.0799	.	108	O15353	FOXN1_HUMAN	T	108	ENSP00000226247:A108T	ENSP00000226247:A108T	A	+	1	0	FOXN1	23875846	0.002000	0.14202	0.082000	0.20525	0.786000	0.44442	-0.092000	0.11129	0.034000	0.15491	-1.168000	0.01747	GCA		0.667	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			4	166	0	0	0	1	0	4	166					A	26851719	G	A	26851719	3	1	73	1	0	0	0	0	1	0	0	0	6046	1087	38	1	328	1	FOXN1	17	26851719	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	19041491	26851719	54343491	142	9135											
CCDC55	84081	broad.mit.edu	37	chr17	28505166	28505167	+	Frame_Shift_Ins	INS	-	-	A													gtatttatgatgaaatgcagINSaaaaaaaaggaggaaaataa					rs143842750	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:28505166_28505167insA	ENST00000247026.5	+	4	312_313	c.249_250insA	c.(250-252)aaafs	p.K84fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	84					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(247-252)caaaaafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28505166_28505167insA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.257dupA	17.37:g.28505174_28505174dupA	ENSP00000247026:p.Lys84fs					NSRP1_ENST00000540900.3_3'UTR	p.QK83fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			4	312_313	+			83					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.249_250insA	CCDS11255.1																																																																																				0.332	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		7	425						7	425	---	---	---	---	A	28505167	-	A	28505166	7	5	73	1	0	1	1	0	0	0	0	0	2832	933	33	0	263	0	CCDC55	17	28505166	Frame_Shift_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	1653447	28505166	52690044	143	9136											
EVI2A	2123	broad.mit.edu	37	chr17	29646024	29646024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtgtgttccatgtccGtgggcatgcttggcaatctg	13	10	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:29646024G>A	ENST00000462804.2	-	2	407	c.8C>T	c.(7-9)aCg>aTg	p.T3M	EVI2A_ENST00000247270.3_Missense_Mutation_p.T26M|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|NF1_ENST00000581113.2_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	3					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCCATGTCCGTGGGCATGCT	0.383																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(76-78)aCg>aTg		ecotropic viral integration site 2A							202	196	198					17																	29646024		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29646024G>A	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.8C>T	17.37:g.29646024G>A	ENSP00000420557:p.Thr3Met					NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|NF1_ENST00000581113.2_Intron	p.T26M	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	413	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	3					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.77C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118278	0.06838	.	.	ENSG00000126860	ENST00000394755;ENST00000461237;ENST00000247270	.	.	.	5.6	-4.93	0.03066	.	0.975316	0.08382	N	0.954343	T	0.15392	0.0371	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.28299	-1.0048	9	0.17832	T	0.49	.	4.1869	0.10402	0.3857:0.1046:0.414:0.0957	.	3;26	P22794;P22794-2	EVI2A_HUMAN;.	M	3;3;26	.	ENSP00000247270:T26M	T	-	2	0	EVI2A	26670150	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	-0.955000	0.03869	-0.659000	0.05359	-0.238000	0.12139	ACG		0.383	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		17	1100	0	0	0	1	0	17	1100					A	29646024	G	A	29646024	3	1	73	1	0	0	0	0	1	0	0	0	5305	1145	40	1	706	1	EVI2A	17	29646024	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1140858	29646024	51549186	144	9137											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	12	15	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																						ENST00000306271.4																			1	Substitution - Missense(1)	p.I116V(1)	NS(1)	NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(346-348)Atc>Gtc		keratin associated protein 1-1							22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197304T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val						p.I116V	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	409	-		Breast(137;0.000496)	116					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.346A>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC		0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		5	221	0	0	0	1	0	5	221					C	39197304	T	C	39197304	3	2	73	1	0	0	0	0	1	0	0	0	8532	1406	49	4	191	4	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	9551280	39197304	41997906	145	9138											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262015	39262015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcatctccagctgctgTcgccccagctgctgtgtgtc	11	15	1	0	rs376253266		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(373-375)tgT>tgC		keratin associated protein 4-9							16	22	20					17																	39262015		691	1590	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262015T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.375T>C	17.37:g.39262015T>C							p.C125C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	432	+			125			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.375T>C	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	221	0	0	0	1	0	9	221					C	39262015	T	C	39262015	2	2	73	1	0	0	0	0	0	0	0	1	8588	1673	58	4		4	KRTAP4-9	17	39262015	Silent	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	64711	39262015	41933195	146	9139											
KRT13	3860	broad.mit.edu	37	chr17	39661661	39661661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaaccacagctcacgcCgcctccatagcccccagctg	6	20	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39661661C>T	ENST00000246635.3	-	1	188	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S|KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	48	Gly-rich.|Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				cAGCTCACGCCGCCTCCATAG	0.622																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(142-144)Ggc>Agc		keratin 13							112	115	114					17																	39661661		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661661C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.142G>A	17.37:g.39661661C>T	ENSP00000246635:p.Gly48Ser					KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S	p.G48S	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			1	188	-		Breast(137;0.000286)	48			Gly-rich.|Head.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.142G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.987263	0.02180	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89485	-2.52;-2.52	4.82	4.82	0.62117	.	0.134022	0.33457	N	0.004886	T	0.76586	0.4008	L	0.35341	1.055	0.09310	N	1	P;P;P	0.42871	0.697;0.697;0.792	B;B;B	0.32624	0.11;0.11;0.149	T	0.67795	-0.5578	10	0.07813	T	0.8	.	9.3512	0.38140	0.0:0.8545:0.0:0.1455	.	48;48;48	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	S	48	ENSP00000246635:G48S;ENSP00000336604:G48S	ENSP00000157775:G48S	G	-	1	0	KRT13	36915187	0.006000	0.16342	0.312000	0.25196	0.027000	0.11550	0.771000	0.26633	2.509000	0.84616	0.655000	0.94253	GGC		0.622	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		9	356	0	0	0	1	0	9	356					T	39661661	C	T	39661661	3	4	73	1	0	0	0	0	1	0	0	0	8480	652	23	1	1266	1	KRT13	17	39661661	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	399646	39661661	41533549	147	9140											
NPEPPS	9520	broad.mit.edu	37	chr17	45662927	45662927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaagtgaagtttgcccGcacacctgttatgtctacat	10	9	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:45662927G>A	ENST00000322157.4	+	6	947	c.710G>A	c.(709-711)cGc>cAc	p.R237H	NPEPPS_ENST00000544660.1_Missense_Mutation_p.R157H|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R233H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	237					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AAGTTTGCCCGCACACCTGTT	0.353																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(709-711)cGc>cAc		aminopeptidase puromycin sensitive							120	113	115					17																	45662927		1842	4088	5930	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45662927G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.710G>A	17.37:g.45662927G>A	ENSP00000320324:p.Arg237His					NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R233H|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R157H	p.R237H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			6	947	+			237					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.710G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959496	0.74016	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.02763	4.17;4.17;4.17	5.52	5.52	0.82312	Peptidase M1, membrane alanine aminopeptidase, N-terminal (4);	0.085770	0.64402	D	0.000002	T	0.20659	0.0497	M	0.91140	3.18	0.53688	D	0.999978	D;D;D	0.71674	0.998;0.973;0.973	D;P;P	0.63381	0.914;0.738;0.791	T	0.02471	-1.1154	10	0.62326	D	0.03	.	19.4252	0.94739	0.0:0.0:1.0:0.0	.	237;233;237	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	H	233;237;224;157	ENSP00000433287:R233H;ENSP00000320324:R237H;ENSP00000442461:R157H	ENSP00000320324:R237H	R	+	2	0	NPEPPS	43017926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.166000	0.71896	2.600000	0.87896	0.650000	0.86243	CGC		0.353	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	651	0	0	0	1	0	7	651					A	45662927	G	A	45662927	3	1	73	1	0	0	0	0	1	0	0	0	10617	1087	38	1	732	1	NPEPPS	17	45662927	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	6001266	45662927	35532283	148	9141											
SEC14L1	6397	broad.mit.edu	37	chr17	75202351	75202351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggaagggctgaacatgCgccacttgtggagacctggt	14	9	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:75202351C>T	ENST00000413679.2	+	12	1513	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	404	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCTGAACATGCGCCACTTGTG	0.567																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1210-1212)Cgc>Tgc		SEC14-like 1 (S. cerevisiae)							94	76	82					17																	75202351		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75202351C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1210C>T	17.37:g.75202351C>T	ENSP00000394716:p.Arg404Cys					SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C	p.R404C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			12	1513	+			404			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1210C>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848721	0.71603	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.31	3.18	0.36537	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88459	0.6442	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91378	0.5125	10	0.87932	D	0	-46.6044	14.1214	0.65189	0.4118:0.5882:0.0:0.0	.	404;404	Q92503-2;Q92503	.;S14L1_HUMAN	C	404;404;404;404;404;370	ENSP00000376268:R404C;ENSP00000406030:R404C;ENSP00000390392:R404C;ENSP00000408169:R404C;ENSP00000394716:R404C;ENSP00000389838:R370C	ENSP00000376268:R404C	R	+	1	0	SEC14L1	72713946	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.122000	0.41987	1.348000	0.45733	0.655000	0.94253	CGC		0.567	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		5	302	0	0	0	1	0	5	302					T	75202351	C	T	75202351	3	4	73	1	0	0	0	0	1	0	0	0	14031	768	27	1	1248	1	SEC14L1	17	75202351	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	29539424	75202351	5992859	149	9142											
RNF213	57674	broad.mit.edu	37	chr17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccattgaaaagcatgCccgcttccggcagatgtgca	12	11	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:78343322C>T	ENST00000582970.1	+	45	12319	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4059					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAAGCATGCCCGCTTCCGG	0.498																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12175-12177)gCc>gTc		ring finger protein 213							116	115	115					17																	78343322		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78343322C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12176C>T	17.37:g.78343322C>T	ENSP00000464087:p.Ala4059Val					RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.A4059V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12319	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12176C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156124	0.57259	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	5.22	4.23	0.50019	Zinc finger, RING/FYVE/PHD-type (1);	0.223032	0.45606	D	0.000343	T	0.24736	0.0600	L	0.56280	1.765	0.30288	N	0.790668	P;B	0.52316	0.952;0.174	B;B	0.41440	0.357;0.114	T	0.28870	-1.0030	10	0.59425	D	0.04	.	11.096	0.48145	0.0:0.8528:0.0:0.1472	.	4108;2132	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4059;4108;2132	ENSP00000338218:A2132V	ENSP00000338218:A2132V	A	+	2	0	RNF213	75957917	1.000000	0.71417	0.971000	0.41717	0.894000	0.52154	4.258000	0.58822	2.603000	0.88011	0.650000	0.86243	GCC		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	659	0	0	0	1	0	5	659					T	78343322	C	T	78343322	3	4	73	1	0	0	0	0	1	0	0	0	13527	739	26	2	12669	2	RNF213	17	78343322	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	3140971	78343322	2851888	150	9143											
SLC38A10	124565	broad.mit.edu	37	chr17	79226066	79226066	+	Frame_Shift_Del	DEL	T	T	-													gcggcggtccccccttggccTtttcccctccacccaccgcc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:79226066delT	ENST00000374759.3	-	13	2257	c.1874delA	c.(1873-1875)aagfs	p.K625fs	SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.K625fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	625					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				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)			CCCCTTGGCCTTTTCCCCTCC	0.706																																						ENST00000374759.3																			0				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						c.(1873-1875)agfs		solute carrier family 38, member 10							24	30	28					17																	79226066		2196	4289	6485	SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226066delT	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.1874delA	17.37:g.79226066delT	ENSP00000363891:p.Lys625fs					SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.K625fs	p.K625fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	2257	-	all_neural(118;0.0804)|Melanoma(429;0.242)		625					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.1874delA	CCDS42397.1																																																																																				0.706	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		7	485						7	485	---	---	---	---	-	79226066	T	-	79226066	7	5	73	1	0	1	0	1	0	0	0	0	14652	1609	56	0	1779	0	SLC38A10	17	79226066	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	882744	79226066	1969144	151	9144											
EPB41L3	23136	broad.mit.edu	37	chr18	5416153	5416153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtccccttgccagtttgCtgtctgtagctaaaagccac	10	12	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr18:5416153C>T	ENST00000341928.2	-	13	2071	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.Q577Q|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	577	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCCAGTTTGCTGTCTGTAGC	0.572																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1729-1731)caG>caA		erythrocyte membrane protein band 4.1-like 3							106	97	100					18																	5416153		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416153C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1731G>A	18.37:g.5416153C>T						EPB41L3_ENST00000342933.3_Silent_p.Q577Q|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron	p.Q577Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2071	-			577			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.1731G>A	CCDS11838.1																																																																																				0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		6	531	0	0	0	1	0	6	531					T	5416153	C	T	5416153	2	4	73	1	0	0	0	0	0	0	0	1	5172	796	28	2		2	EPB41L3	18	5416153	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		5416153	72661095	152	9145											
LAMA1	284217	broad.mit.edu	37	chr18	7044806	7044806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgttacagctctccccGcaagtattatgctcacattg	6	14	2	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr18:7044806G>A	ENST00000389658.3	-	7	984	c.891C>T	c.(889-891)tgC>tgT	p.C297C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	297	Laminin EGF-like 1. {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)			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)				AGCTCTCCCCGCAAGTATTAT	0.448																																						ENST00000389658.3																			0				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						c.(889-891)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118	113	115					18																	7044806		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:7044806G>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.891C>T	18.37:g.7044806G>A							p.C297C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			7	984	-		Colorectal(10;0.172)	297			Laminin EGF-like 1.			Silent	SNP	ENST00000389658.3	37	c.891C>T	CCDS32787.1																																																																																				0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	798	0	0	0	1	0	6	798					A	7044806	G	A	7044806	2	1	73	1	0	0	0	0	0	0	0	1	8636	1079	38	1		1	LAMA1	18	7044806	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1628653	7044806	71032442	153	9146											
TRMT1	55621	broad.mit.edu	37	chr19	13215786	13215786	+	Frame_Shift_Del	DEL	G	G	-													cagcggcagccccaggtccaGggggggtctggttggaggtc					rs371881044		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:13215786delG	ENST00000592062.1	-	18	2513	c.1943delC	c.(1942-1944)cctfs	p.P648fs	TRMT1_ENST00000221504.8_Frame_Shift_Del_p.P619fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.P648fs|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Frame_Shift_Del_p.P648fs			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	648							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCCAGGTCCAGGGGGGGTCTG	0.602											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1942-1944)ctfs		tRNA methyltransferase 1 homolog (S. cerevisiae)							103	118	113					19																	13215786		2203	4300	6503	SO:0001589	frameshift_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13215786delG	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1943delC	19.37:g.13215786delG	ENSP00000466967:p.Pro648fs		OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	TRMT1_ENST00000437766.1_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000221504.8_Frame_Shift_Del_p.P619fs	p.P648fs			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	18	2513	-			648					O76103|Q548Y5|Q8WVA6	Frame_Shift_Del	DEL	ENST00000592062.1	37	c.1943delC	CCDS12293.1																																																																																				0.602	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		7	1471						7	1471	---	---	---	---	-	13215786	G	-	13215786	7	5	73	1	0	1	0	1	0	0	0	0	16614	1000	35	0	40	0	TRMT1	19	13215786	Frame_Shift_Del	DEL	G	TCGA-HZ-A77O-01A-11D-A33T-08		13215786	45913197	154	9147											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59	62	61					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		5	465	0	0	0	1	0	5	465					C	20807460	T	C	20807460	3	2	73	1	0	0	0	0	1	0	0	0	18103	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	7591674	20807460	38321523	155	9148											
MEGF8	1954	broad.mit.edu	37	chr19	42862961	42862961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcgtatgaggaatgtgcGtggctcatctcggggtctgg	16	7	3	2	rs371976691		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:42862961G>A	ENST00000251268.6	+	30	5198	c.5198G>A	c.(5197-5199)cGt>cAt	p.R1733H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1666H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1733					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAATGTGCGTGGCTCATCT	0.612																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4996-4998)cGt>cAt		multiple EGF-like-domains 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	63	57	59		4997	0.5	0	19		59	0,8598		0,0,4299	no	missense	MEGF8	NM_001410.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1666/2779	42862961	1,13003	2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42862961G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5198G>A	19.37:g.42862961G>A	ENSP00000251268:p.Arg1733His					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1733H	p.R1666H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			29	5632	+		Prostate(69;0.00682)	1733					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4997G>A		.	.	.	.	.	.	.	.	.	.	G	4.386	0.071245	0.08436	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	2.71	0.483	0.16820	Galactose oxidase/kelch, beta-propeller (1);	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	P;B	0.36660	0.564;0.127	B;B	0.26517	0.03;0.07	T	0.27706	-1.0066	9	0.21540	T	0.41	1.3309	3.1445	0.06467	0.1486:0.0:0.5888:0.2626	.	1733;1666	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1666;1733	ENSP00000334219:R1666H;ENSP00000251268:R1733H	ENSP00000251268:R1733H	R	+	2	0	MEGF8	47554801	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	0.661000	0.25023	0.208000	0.20626	0.462000	0.41574	CGT		0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		20	68	0	0	0	1	0	20	68					A	42862961	G	A	42862961	3	1	73	1	0	0	0	0	1	0	0	0	9504	1145	40	1	5111	1	MEGF8	19	42862961	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	22055501	42862961	16266022	156	9149											
ZNF285	26974	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	6	11	4	2	rs140033872		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89	89	89					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		10	731	0	0	0	1	0	10	731					T	44892133	C	T	44892133	3	4	73	1	0	0	0	0	1	0	0	0	17875	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2029172	44892133	14236850	157	9150											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		8	158						8	158	---	---	---	---	-	45381751	GAG	-	45381749	6	5	73	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-HZ-A77O-01A-11D-A33T-08	489616	45381749	13747234	158	9151											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			10	847						10	847	---	---	---	---	-	47572403	CTC	-	47572401	7	5	73	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-HZ-A77O-01A-11D-A33T-08	2190652	47572401	11556582	159	9152											
BBC3	27113	broad.mit.edu	37	chr19	47725042	47725042	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagtccctgacgtccacCgggcgggtgcaggcacctaa	13	16	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47725042C>T	ENST00000439096.2	-	0	879				BBC3_ENST00000449228.1_Silent_p.P234P|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000341983.4_3'UTR	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		TGACGTCCACCGGGCGGGTGC	0.657																																						ENST00000449228.1																			0				endometrium(1)|lung(2)|skin(1)	4						c.(700-702)ccG>ccA		BCL2 binding component 3							22	24	23					19																	47725042		2203	4299	6502	SO:0001624	3_prime_UTR_variant	27113				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding	g.chr19:47725042C>T	AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.*17G>A	19.37:g.47725042C>T						BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000439096.2_3'UTR	p.P234P	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)	4	865	-		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	0					B9EGI3|O00171|Q96PG9	Silent	SNP	ENST00000439096.2	37	c.702G>A	CCDS12697.1																																																																																				0.657	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466874.1	NM_014417		7	191	0	0	0	1	0	7	191					T	47725042	C	T	47725042	1	4	73	0	1	0	0	0	0	0	0	0	1334	639	23	1		1	BBC3	19	47725042	3'UTR	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	152641	47725042	11403941	160	9153											
GLTSCR2	29997	broad.mit.edu	37	chr19	48259965	48259965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaacgcaagtacaaggTgaagctggtggagaagcggg	16	6	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:48259965T>G	ENST00000246802.5	+	12	1432	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	465				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGTACAAGGTGAAGCTGGTG	0.657																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1393-1395)gTg>gGg		glioma tumor suppressor candidate region gene 2							63	62	62					19																	48259965		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48259965T>G	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1394T>G	19.37:g.48259965T>G	ENSP00000246802:p.Val465Gly					GLTSCR2_ENST00000598681.1_3'UTR	p.V465G	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	12	1432	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	465	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1394T>G	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879942	0.72294	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33438	1.41	4.79	3.73	0.42828	.	0.221650	0.37393	N	0.002114	T	0.35158	0.0922	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.16867	-1.0388	10	0.87932	D	0	-26.9135	8.437	0.32793	0.0:0.0:0.1978:0.8022	.	465	Q9NZM5	GSCR2_HUMAN	G	465;459;250	ENSP00000246802:V465G	ENSP00000246802:V465G	V	+	2	0	GLTSCR2	52951777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.128000	0.50492	0.918000	0.36919	0.533000	0.62120	GTG		0.657	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		49	227	0	0	0	1	0	49	227					G	48259965	T	G	48259965	3	3	73	1	0	0	0	0	1	0	0	0	6504	1696	59	4	1440	4	GLTSCR2	19	48259965	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	534923	48259965	10869018	161	9154											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	220						7	220	---	---	---	---	-	50868838	GCA	-	50868836	7	5	73	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-HZ-A77O-01A-11D-A33T-08	2608871	50868836	8260147	162	9155											
ZNF610	162963	broad.mit.edu	37	chr19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaagtctttgggcGcaaattatacctaaccaacc	7	10	1	1	rs150692972		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:52869863G>A	ENST00000403906.3	+	6	1688	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_ENST00000601151.1_Missense_Mutation_p.R368H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H|ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19080	0.0		0.0	False		,,,				2504	0.0					ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1102-1104)cGc>cAc		zinc finger protein 610		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	58	55	56		1232,1232,1103,1232	-3.8	0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	411/463,411/463,368/420,411/463	52869863	2,13004	2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869863G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1232G>A	19.37:g.52869863G>A	ENSP00000383922:p.Arg411His					ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H|ZNF610_ENST00000403906.3_Missense_Mutation_p.R411H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H	p.R368H	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1555	+			411					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1103G>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	1.007	-0.688972	0.03328	4.54E-4	0.0	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07327	3.2;3.2	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	L	0.39020	1.185	0.09310	N	1	B;B	0.29378	0.205;0.243	B;B	0.11329	0.004;0.006	T	0.44847	-0.9301	9	0.10636	T	0.68	.	0.1648	0.00107	0.3126:0.152:0.2481:0.2874	.	368;411	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	411;368;411	ENSP00000383922:R411H;ENSP00000327597:R411H	ENSP00000324441:R368H	R	+	2	0	ZNF610	57561675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-2.397000	0.00581	-1.058000	0.02302	CGC		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		5	419	0	0	0	1	0	5	419					A	52869863	G	A	52869863	3	1	73	1	0	0	0	0	1	0	0	0	18089	1087	38	1	1246	1	ZNF610	19	52869863	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2001027	52869863	6259120	163	9156											
LILRA6	79168	broad.mit.edu	37	chr19	54744217	54744217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttggagctgtatgagccGtagcacctgtaggtccccgc	15	11	0	1	rs78401423	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:54744217G>A	ENST00000396365.2	-	6	1230	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Silent_p.Y397Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	397	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTATGAGCCGTAGCACCTGT	0.597													.|||	2	0.000399361	0.0	0.0014	5008	,	,		24490	0.001		0.0	False		,,,				2504	0.0					ENST00000419410.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1189-1191)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		G		1,4405		0,1,2202	79	111	100		1191	-0.7	0.1	19	dbSNP_131	100	0,8600		0,0,4300	no	coding-synonymous	LILRA6	NM_024318.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		397/482	54744217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79168							g.chr19:54744217G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1191C>T	19.37:g.54744217G>A						LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron	p.Y397Y						GBM - Glioblastoma multiforme(193;0.105)	6	1192	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.1191C>T	CCDS42610.1																																																																																				0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		7	1070	0	0	0	1	0	7	1070					A	54744217	G	A	54744217	2	1	73	1	0	0	0	0	0	0	0	1	8821	1140	40	1		1	LILRA6	19	54744217	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1874354	54744217	4384766	164	9157											
RPL28	6158	broad.mit.edu	37	chr19	55899328	55899328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccacctcctatgtgcGgaccaccatcaacaagaatg	8	15	1	1	rs34259396		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:55899328G>A	ENST00000344063.2	+	4	865	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	RPL28_ENST00000560055.1_Missense_Mutation_p.R79Q|RPL28_ENST00000558131.1_Missense_Mutation_p.G73R|RPL28_ENST00000558815.1_Missense_Mutation_p.R79Q|RPL28_ENST00000458349.2_Missense_Mutation_p.R79Q|RPL28_ENST00000559463.1_Missense_Mutation_p.R79Q|RPL28_ENST00000560583.1_Missense_Mutation_p.R79Q			P46779	RL28_HUMAN	ribosomal protein L28	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R79L(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TCCTATGTGCGGACCACCATC	0.612																																						ENST00000344063.2																			2	Substitution - Missense(2)	p.R79L(2)	lung(2)	endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(235-237)cGg>cAg		ribosomal protein L28							87	85	86					19																	55899328		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899328G>A	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.236G>A	19.37:g.55899328G>A	ENSP00000342787:p.Arg79Gln					RPL28_ENST00000558131.1_Missense_Mutation_p.G73R|RPL28_ENST00000560055.1_Missense_Mutation_p.R79Q|RPL28_ENST00000560583.1_Missense_Mutation_p.R79Q|RPL28_ENST00000558815.1_Missense_Mutation_p.R79Q|RPL28_ENST00000458349.2_Missense_Mutation_p.R79Q|RPL28_ENST00000559463.1_Missense_Mutation_p.R79Q	p.R79Q			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	865	+	Breast(117;0.191)	Renal(1328;0.245)	79					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.236G>A	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170899	0.38315	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.44482	0.92;0.92	3.44	3.44	0.39384	.	0.209809	0.38005	N	0.001845	T	0.28134	0.0694	L	0.37630	1.12	0.28876	N	0.89467	P;P;B	0.43314	0.637;0.803;0.116	B;B;B	0.37692	0.083;0.256;0.026	T	0.17018	-1.0383	10	0.40728	T	0.16	.	7.3219	0.26531	0.129:0.0:0.871:0.0	.	79;79;79	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	Q	79	ENSP00000342787:R79Q;ENSP00000401450:R79Q	ENSP00000342787:R79Q	R	+	2	0	RPL28	60591140	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.627000	0.67784	1.864000	0.54056	0.462000	0.41574	CGG		0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		7	709	0	0	0	1	0	7	709					A	55899328	G	A	55899328	3	1	73	1	0	0	0	0	1	0	0	0	13627	1116	39	1	314	1	RPL28	19	55899328	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1155111	55899328	3229655	165	9158											
CHMP2A	27243	broad.mit.edu	37	chr19	59063736	59063736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcctggatgttggcccGcatcaatacaaacttgcgca	9	13	1	0	rs146786448		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:59063736G>A	ENST00000600118.1	-	2	663	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W|CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	80	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTTGGCCCGCATCAATACA	0.537																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(238-240)Cgg>Tgg		charged multivesicular body protein 2A		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	167	144	152		238,238	4.2	1	19	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHMP2A	NM_014453.2,NM_198426.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	80/223,80/223	59063736	1,13005	2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063736G>A	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.238C>T	19.37:g.59063736G>A	ENSP00000469240:p.Arg80Trp					CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W	p.R80W			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	663	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	80			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.238C>T	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163553	0.78226	0.0	1.16E-4	ENSG00000130724	ENST00000312547	T	0.73047	-0.71	5.21	4.17	0.49024	.	0.059857	0.64402	D	0.000006	D	0.84669	0.5523	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.87404	0.2371	10	0.87932	D	0	.	13.3112	0.60380	0.0:0.0:0.8406:0.1594	.	80	O43633	CHM2A_HUMAN	W	80	ENSP00000310440:R80W	ENSP00000310440:R80W	R	-	1	2	CHMP2A	63755548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.248000	0.32827	1.327000	0.45338	0.655000	0.94253	CGG		0.537	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		6	770	0	0	0	1	0	6	770					A	59063736	G	A	59063736	3	1	73	1	0	0	0	0	1	0	0	0	3363	1086	38	1	446	1	CHMP2A	19	59063736	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	3164408	59063736	65247	166	9159											
GSS	2937	broad.mit.edu	37	chr20	33519827	33519827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacatctccagcatgCccggcctgcttagctcctgc	10	16	1	0	rs199916857	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:33519827C>T	ENST00000216951.2	-	10	1042	c.944G>A	c.(943-945)gGc>gAc	p.G315D	GSS_ENST00000541098.1_Missense_Mutation_p.G187D|GSS_ENST00000451957.2_Missense_Mutation_p.G204D	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	315					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CTCCAGCATGCCCGGCCTGCT	0.632																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(943-945)gGc>gAc		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						76	72	74					20																	33519827		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33519827C>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.944G>A	20.37:g.33519827C>T	ENSP00000216951:p.Gly315Asp					GSS_ENST00000451957.2_Missense_Mutation_p.G204D|GSS_ENST00000541098.1_Missense_Mutation_p.G187D	p.G315D	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		10	1042	-			315					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.944G>A	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364901	0.82463	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.91577	-2.87;-2.87;-2.87	5.65	5.65	0.86999	Glutathione synthase, alpha-helical, eukaryotic (1);	0.095693	0.64402	D	0.000001	D	0.93354	0.7881	L	0.58101	1.795	0.80722	D	1	P;D	0.76494	0.928;0.999	P;D	0.70487	0.671;0.969	D	0.92282	0.5834	10	0.40728	T	0.16	-15.3197	12.9878	0.58602	0.0:0.9264:0.0:0.0736	.	204;315	B6F210;P48637	.;GSHB_HUMAN	D	315;187;204	ENSP00000216951:G315D;ENSP00000439744:G187D;ENSP00000407517:G204D	ENSP00000216951:G315D	G	-	2	0	GSS	32983488	1.000000	0.71417	0.290000	0.24890	0.973000	0.67179	6.051000	0.71072	2.665000	0.90641	0.650000	0.86243	GGC		0.632	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			6	639	0	0	0	1	0	6	639					T	33519827	C	T	33519827	3	4	73	1	0	0	0	0	1	0	0	0	6859	739	26	2	496	2	GSS	20	33519827	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		33519827	29505693	167	9160											
TOX2	84969	broad.mit.edu	37	chr20	42680013	42680013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggcccctgctgggtcGcccggcaatgctggccagcc	15	18	0	0	rs199879040		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:42680013G>A	ENST00000358131.5	+	4	714	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000423191.2_Missense_Mutation_p.R118H|TOX2_ENST00000341197.4_Missense_Mutation_p.R160H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	169					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGGGTCGCCCGGCAATG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(505-507)cGc>cAc		TOX high mobility group box family member 2							23	25	25					20																	42680013		2201	4298	6499	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42680013G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.506G>A	20.37:g.42680013G>A	ENSP00000350849:p.Arg169His					TOX2_ENST00000423191.1_Missense_Mutation_p.R118H|TOX2_ENST00000341197.3_Missense_Mutation_p.R160H|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_Missense_Mutation_p.R38H	p.R169H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	714	+		Myeloproliferative disorder(115;0.00452)	169					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.506G>A	CCDS42875.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.49	2.847712	0.51164	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.32515	2.66;1.45;2.68;2.68;2.46;2.42	5.76	4.81	0.61882	.	0.172966	0.52532	D	0.000077	T	0.49064	0.1535	L	0.52905	1.665	0.49582	D	0.999809	B;D;B;D;D	0.89917	0.154;1.0;0.089;0.999;1.0	B;D;B;P;D	0.83275	0.025;0.996;0.01;0.908;0.991	T	0.37641	-0.9697	10	0.22706	T	0.39	.	15.2536	0.73568	0.0:0.0:0.8586:0.1414	.	38;160;118;169;118	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	H	160;118;118;118;169;38	ENSP00000344724:R160H;ENSP00000396584:R118H;ENSP00000390278:R118H;ENSP00000362090:R118H;ENSP00000350849:R169H;ENSP00000396777:R38H	ENSP00000344724:R160H	R	+	2	0	TOX2	42113427	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	4.308000	0.59129	1.406000	0.46857	-0.181000	0.13052	CGC		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			68	200	0	0	0	1	0	68	200					A	42680013	G	A	42680013	3	1	73	1	0	0	0	0	1	0	0	0	16431	1087	38	1	623	1	TOX2	20	42680013	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	9160186	42680013	20345507	168	9161											
MMP9	4318	broad.mit.edu	37	chr20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctttcctcctggccccgGcattcagggagacgcccatt	10	17	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTGGCCCCGGCATTCAGGGA	0.602																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(589-591)gGc>gAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						86	80	82					20																	44639630		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639630G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp						p.G197D	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			4	609	+		Myeloproliferative disorder(115;0.0122)	197					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.590G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			6	682	0	0	0	1	0	6	682					A	44639630	G	A	44639630	3	1	73	1	0	0	0	0	1	0	0	0	9710	1203	42	2	604	2	MMP9	20	44639630	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1959617	44639630	18385890	169	9162											
PREX1	57580	broad.mit.edu	37	chr20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgacttcagtgttgattcGacccctgaagatgtagaggg	12	8	1	5			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:47309258G>A	ENST00000371941.3	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.R330*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(988-990)Cga>Tga		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							231	182	199					20																	47309258		2203	4300	6503	SO:0001587	stop_gained	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47309258G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.988C>T	20.37:g.47309258G>A	ENSP00000361009:p.Arg330*					PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330*	p.R330*			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		8	1010	-			330			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Nonsense_Mutation	SNP	ENST00000371941.3	37	c.988C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315272	0.97467	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	5.22	5.22	0.72569	.	0.000000	0.46145	U	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0674	0.64839	0.0:0.0:0.8494:0.1506	.	.	.	.	X	330	.	ENSP00000361009:R330X	R	-	1	2	PREX1	46742665	1.000000	0.71417	0.768000	0.31515	0.923000	0.55619	3.913000	0.56394	2.601000	0.87937	0.650000	0.86243	CGA		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		95	358	0	0	0	1	0	95	358					A	47309258	G	A	47309258	4	1	73	1	0	0	0	0	0	1	0	0	12523	1066	37	1	4123	1	PREX1	20	47309258	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2669628	47309258	15716262	170	9163											
OGFR	11054	broad.mit.edu	37	chr20	61444809	61444809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgcaggggacgagccAgccgagagcccatcggagac	16	13	0	2	rs574057701	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:61444809A>G	ENST00000290291.6	+	7	1867	c.1842A>G	c.(1840-1842)ccA>ccG	p.P614P	OGFR_ENST00000370461.1_Silent_p.P562P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	614	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.756													N|||	12	0.00239617	0.0008	0.0029	5008	,	,		10149	0.0		0.003	False		,,,				2504	0.0061					ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1684-1686)ccA>ccG		opioid growth factor receptor							4	7	6					20																	61444809		1785	3645	5430	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444809A>G	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1842A>G	20.37:g.61444809A>G						OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P614P	p.P562P			Q9NZT2	OGFR_HUMAN			5	3963	+	Breast(26;3.65e-08)		614			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1686A>G	CCDS13504.1																																																																																				0.756	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			7	152	0	0	0	1	0	7	152					G	61444809	A	G	61444809	2	3	73	1	0	0	0	0	0	0	0	1	10885	175	7	4		4	OGFR	20	61444809	Silent	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	14135551	61444809	1580711	171	9164											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	1510						7	1510	---	---	---	---	-	34799292	T	-	34799292	7	5	73	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08		34799292	13330603	172	9165											
DOPEY2	9980	broad.mit.edu	37	chr21	37618297	37618297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaccgagacattctcgGcaaccgggacgtgcaggtca	12	14	2	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:37618297G>A	ENST00000399151.3	+	19	4104	c.4019G>A	c.(4018-4020)gGc>gAc	p.G1340D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1340					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACATTCTCGGCAACCGGGAC	0.552																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(4018-4020)gGc>gAc		dopey family member 2							115	105	109					21																	37618297		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618297G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4019G>A	21.37:g.37618297G>A	ENSP00000382104:p.Gly1340Asp						p.G1340D	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	4104	+			1340					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4019G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838266	0.71373	.	.	ENSG00000142197	ENST00000399151	T	0.39787	1.06	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.81497	2.545	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.69932	-0.5011	10	0.49607	T	0.09	.	18.8976	0.92430	0.0:0.0:1.0:0.0	.	1340;1340	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	D	1340	ENSP00000382104:G1340D	ENSP00000382104:G1340D	G	+	2	0	DOPEY2	36540167	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	5.137000	0.64789	2.552000	0.86080	0.655000	0.94253	GGC		0.552	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		6	689	0	0	0	1	0	6	689					A	37618297	G	A	37618297	3	1	73	1	0	0	0	0	1	0	0	0	4724	1203	42	2	4089	2	DOPEY2	21	37618297	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2819005	37618297	10511598	173	9166											
MCM3AP	8888	broad.mit.edu	37	chr21	47663397	47663397	+	Frame_Shift_Del	DEL	G	G	-													acctgatgtaacaggaagccGggggggcgtccagtctctca							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:47663397delG	ENST00000397708.1	-	25	5532	c.5278delC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACAGGAAGCCGGGGGGGCGTC	0.527																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)ggfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663397delG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5278delC	21.37:g.47663397delG	ENSP00000380820:p.Arg1760fs					MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA	p.R1760fs			O60318	MCM3A_HUMAN			25	5532	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.5278delC	CCDS13734.1																																																																																				0.527	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		9	879						9	879	---	---	---	---	-	47663397	G	-	47663397	7	5	73	1	0	1	0	1	0	0	0	0	9429	1115	39	0	684	0	MCM3AP	21	47663397	Frame_Shift_Del	DEL	G	TCGA-HZ-A77O-01A-11D-A33T-08	10045100	47663397	466498	174	9167											
POTEH	23784	broad.mit.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110	126	120					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	1733	0	0	0	1	0	8	1733					G	16287673	C	G	16287673	3	3	73	1	0	0	0	0	1	0	0	0	12309	508	18	5	1464	5	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		16287673	35016893	175	9168											
RTN4R	65078	broad.mit.edu	37	chr22	20229361	20229361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccgctgcctgcctggCccagacggcagtggctgcgg	14	18	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20229361C>T	ENST00000043402.7	-	2	1733	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	432					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCTGGCCCAGACGGCA	0.731																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(1294-1296)gGc>gAc		reticulon 4 receptor							8	9	9					22																	20229361		2114	4160	6274	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229361C>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1295G>A	22.37:g.20229361C>T	ENSP00000043402:p.Gly432Asp						p.G432D	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	1733	-	Colorectal(54;0.0993)		432					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.1295G>A	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.541897|2.541897	0.45280|0.45280	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.62105	.|0.05	3.35|3.35	2.31|2.31	0.28768|0.28768	.|.	.|.	.|.	.|.	.|.	T|T	0.58524|0.58524	0.2128|0.2128	L|L	0.39898|0.39898	1.24|1.24	0.36293|0.36293	D|D	0.856517|0.856517	.|D	.|0.69078	.|0.997	.|P	.|0.55011	.|0.766	T|T	0.59215|0.59215	-0.7496|-0.7496	5|9	.|0.25106	.|T	.|0.35	.|.	6.5148|6.5148	0.22242|0.22242	0.0:0.8615:0.0:0.1385|0.0:0.8615:0.0:0.1385	.|.	.|432	.|Q9BZR6	.|RTN4R_HUMAN	T|D	452;518|432	.|ENSP00000043402:G432D	.|ENSP00000043402:G432D	A|G	-|-	1|2	0|0	RTN4R|RTN4R	18609361|18609361	0.057000|0.057000	0.20700|0.20700	0.998000|0.998000	0.56505|0.56505	0.878000|0.878000	0.50629|0.50629	0.829000|0.829000	0.27449|0.27449	0.740000|0.740000	0.32651|0.32651	0.305000|0.305000	0.20034|0.20034	GCC|GGC		0.731	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			22	67	0	0	0	1	0	22	67					T	20229361	C	T	20229361	3	4	73	1	0	0	0	0	1	0	0	0	13780	739	26	2	130	2	RTN4R	22	20229361	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	3941688	20229361	31075205	176	9169											
MED15	51586	broad.mit.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcaggcggcgctaCagcagcagcagcagcagcag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	167						7	167	---	---	---	---	-	20918819	CAG	-	20918817	7	5	73	1	0	1	0	1	0	0	0	0	9474	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-HZ-A77O-01A-11D-A33T-08	689456	20918817	30385749	177	9170											
EWSR1	2130	broad.mit.edu	37	chr22	29695624	29695624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggccctggtggcatgCggggaggaagaggtggcctc	21	8	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:29695624C>T	ENST00000397938.2	+	16	2033	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	572	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R572W(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGTGGCATGCGGGGAGGAAG	0.632			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R572W(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1714-1716)Cgg>Tgg		EWS RNA-binding protein 1							96	78	84					22																	29695624		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695624C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1714C>T	22.37:g.29695624C>T	ENSP00000381031:p.Arg572Trp					EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W	p.R572W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2033	+			572			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1714C>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964150|2.964150	0.53507|0.53507	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.97404	.|-4.28;-3.83;-3.93;-4.37;-3.96;-3.84	5.18|5.18	-0.132|-0.132	0.13489|0.13489	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.94032|0.94032	0.8088|0.8088	L|L	0.53249|0.53249	1.67|1.67	0.51233|0.51233	D|D	0.999913|0.999913	.|B;B;B;B;B	.|0.15473	.|0.004;0.013;0.013;0.013;0.013	.|B;B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.001;0.001	D|D	0.88555|0.88555	0.3119|0.3119	5|10	.|0.66056	.|D	.|0.02	.|.	9.693|9.693	0.40141|0.40141	0.4598:0.4707:0.0:0.0695|0.4598:0.4707:0.0:0.0695	.|.	.|516;571;516;577;572	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	V|W	223|499;572;571;534;577;516	.|ENSP00000330896:R499W;ENSP00000381031:R572W;ENSP00000385726:R571W;ENSP00000330516:R534W;ENSP00000400142:R577W;ENSP00000331699:R516W	.|ENSP00000330516:R534W	A|R	+|+	2|1	0|2	EWSR1|EWSR1	28025624|28025624	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	0.457000|0.457000	0.21875|0.21875	0.179000|0.179000	0.19938|0.19938	0.305000|0.305000	0.20034|0.20034	GCG|CGG		0.632	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		4	191	0	0	0	1	0	4	191					T	29695624	C	T	29695624	3	4	73	1	0	0	0	0	1	0	0	0	5314	759	27	1	1893	1	EWSR1	22	29695624	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	8776807	29695624	21608942	178	9171											
SULT4A1	25830	broad.mit.edu	37	chr22	44237769	44237769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctcatcggggtcagcGccctggctcaccaagtagac	11	15	3	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:44237769G>A	ENST00000330884.4	-	2	333	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SULT4A1_ENST00000249130.5_Silent_p.G71G|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGGGTCAGCGCCCTGGCTCA	0.667																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(211-213)ggC>ggT		sulfotransferase family 4A, member 1							55	53	54					22																	44237769		2203	4300	6503	SO:0001819	synonymous_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44237769G>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.213C>T	22.37:g.44237769G>A						SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.G71G	p.G71G	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	2	333	-		Ovarian(80;0.024)|all_neural(38;0.0416)	71					B2R7N3|O43728	Silent	SNP	ENST00000330884.4	37	c.213C>T	CCDS14051.1																																																																																				0.667	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		46	279	0	0	0	1	0	46	279					A	44237769	G	A	44237769	2	1	73	1	0	0	0	0	0	0	0	1	15435	1074	38	1		1	SULT4A1	22	44237769	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	14542145	44237769	7066797	179	9172											
ATXN10	25814	broad.mit.edu	37	chr22	46098600	46098600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatccggacaaaaaaattGttgcctactcttcaatgatt	5	9	3	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:46098600G>A	ENST00000252934.5	+	5	785	c.520G>A	c.(520-522)Gtt>Att	p.V174I	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	174					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAAAAAATTGTTGCCTACTC	0.323																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(520-522)Gtt>Att		ataxin 10							101	94	96					22																	46098600		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46098600G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.520G>A	22.37:g.46098600G>A	ENSP00000252934:p.Val174Ile					ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	p.V174I	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	5	785	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	174					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.520G>A	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687268	0.68157	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.50277	0.75;0.75	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.059143	0.64402	D	0.000002	T	0.38772	0.1053	N	0.20986	0.625	0.53005	D	0.999969	P;P	0.45176	0.73;0.852	B;B	0.41299	0.353;0.243	T	0.09773	-1.0659	10	0.28530	T	0.3	-9.6916	19.2565	0.93948	0.0:0.0:1.0:0.0	.	110;174	A6NLC4;Q9UBB4	.;ATX10_HUMAN	I	110;174;174	ENSP00000370449:V110I;ENSP00000252934:V174I	ENSP00000252934:V174I	V	+	1	0	ATXN10	44477264	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.370000	0.44240	2.800000	0.96347	0.591000	0.81541	GTT		0.323	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		94	273	0	0	0	1	0	94	273					A	46098600	G	A	46098600	3	1	73	1	0	0	0	0	1	0	0	0	1211	1377	48	2	538	2	ATXN10	22	46098600	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1860831	46098600	5205966	180	9173											
CA5B	11238	broad.mit.edu	37	chrX	15800764	15800764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaagcgaaacccaagccgGccaccagccaagcaaccccc	7	19	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:15800764G>A	ENST00000318636.3	+	8	1067	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CA5B_ENST00000454127.2_Missense_Mutation_p.A311T	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					ACCCAAGCCGGCCACCAGCCA	0.438																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(931-933)Gcc>Acc		carbonic anhydrase VB, mitochondrial							85	75	78					X																	15800764		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15800764G>A	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.931G>A	X.37:g.15800764G>A	ENSP00000314099:p.Ala311Thr					CA5B_ENST00000454127.2_Missense_Mutation_p.A311T	p.A311T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN			8	1067	+	Hepatocellular(33;0.183)		311					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.931G>A	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366850	0.11352	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.68765	-0.35;-0.35	5.39	-0.177	0.13307	.	1.471110	0.03979	N	0.293022	T	0.29190	0.0726	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	10	0.02654	T	1	2.289	0.7556	0.00998	0.2176:0.1744:0.3577:0.2504	.	311	Q9Y2D0	CAH5B_HUMAN	T	311	ENSP00000314099:A311T;ENSP00000417021:A311T	ENSP00000314099:A311T	A	+	1	0	CA5B	15710685	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.033000	0.13754	-0.422000	0.07405	0.600000	0.82982	GCC		0.438	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		5	589	0	0	0	1	0	5	589					A	15800764	G	A	15800764	3	1	73	1	0	0	0	0	1	0	0	0	2527	1203	42	2	957	2	CA5B	23	15800764	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		15800764	139469796	181	9174											
FAM120C	54954	broad.mit.edu	37	chrX	54099471	54099471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccatcttcagcttatcagtCctctttccgttgtgccacag	7	14	4	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:54099471C>A	ENST00000375180.2	-	16	3342	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1096							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTATCAGTCCTCTTTCCGT	0.418																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(3286-3288)Gac>Tac		family with sequence similarity 120C							235	186	203					X																	54099471		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54099471C>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3286G>T	X.37:g.54099471C>A	ENSP00000364324:p.Asp1096Tyr					FAM120C_ENST00000328235.4_3'UTR	p.D1096Y	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			16	3342	-			1096					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.3286G>T	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579228	0.46006	.	.	ENSG00000184083	ENST00000375180	T	0.24908	1.83	4.52	2.74	0.32292	.	0.372810	0.22141	N	0.064050	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	D	0.53885	0.963	P	0.50708	0.648	T	0.05131	-1.0904	10	0.87932	D	0	.	8.735	0.34523	0.0:0.7975:0.0:0.2025	.	1096	Q9NX05	F120C_HUMAN	Y	1096	ENSP00000364324:D1096Y	ENSP00000364324:D1096Y	D	-	1	0	FAM120C	54116196	0.994000	0.37717	0.837000	0.33122	0.604000	0.37047	1.002000	0.29796	0.434000	0.26340	-0.192000	0.12808	GAC		0.418	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		231	816	1	0	8.35633e-98	1	9.07258e-98	231	816					A	54099471	C	A	54099471	3	1	73	1	0	0	0	0	1	0	0	0	5439	855	30	3	8	3	FAM120C	23	54099471	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	38298707	54099471	101171089	182	9175											
LAS1L	81887	broad.mit.edu	37	chrX	64753566	64753566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatccaagagcttacagcGtatcaggtcagcagtagaag	10	9	2	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:64753566G>A	ENST00000374811.3	-	2	326	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.R96C|LAS1L_ENST00000374807.5_Missense_Mutation_p.R96C	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGCTTACAGCGTATCAGGTCA	0.527																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(286-288)Cgc>Tgc		LAS1-like (S. cerevisiae)							189	134	152					X																	64753566		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64753566G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.286C>T	X.37:g.64753566G>A	ENSP00000363944:p.Arg96Cys					LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.R96C|LAS1L_ENST00000374807.5_Missense_Mutation_p.R96C	p.R96C	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			2	326	-			96					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.286C>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727566	0.69074	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000312391	.	.	.	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.72623	-0.4237	9	0.62326	D	0.03	.	12.1979	0.54309	0.0:0.0:0.8295:0.1705	.	96;96	Q9Y4W2-2;Q9Y4W2	.;LAS1L_HUMAN	C	96	.	ENSP00000308649:R96C	R	-	1	0	LAS1L	64670291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.193000	0.58385	1.212000	0.43366	0.600000	0.82982	CGC		0.527	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	570	0	0	0	1	0	6	570					A	64753566	G	A	64753566	3	1	73	1	0	0	0	0	1	0	0	0	8667	1145	40	1	1970	1	LAS1L	23	64753566	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	10654095	64753566	90516994	183	9176											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		13	607	0	0	0	1	0	13	607					C	73811938	G	C	73811938	2	2	73	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	9058372	73811938	81458622	184	9177											
ATRX	546	broad.mit.edu	37	chrX	76855019	76855019	+	Frame_Shift_Del	DEL	T	T	-													cttccacttgagctactatcTtttttcccctttttcccttt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:76855019delT	ENST00000373344.5	-	25	6031	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1939	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTACTATCTTTTTTCCCCT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5815-5817)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						380	352	362					X																	76855019		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855019delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5817delA	X.37:g.76855019delT	ENSP00000362441:p.Lys1939fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs|ATRX_ENST00000480283.1_5'UTR	p.K1939fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6031	-			1939			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5817delA	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	2372						8	2372	---	---	---	---	-	76855019	T	-	76855019	7	5	73	1	0	1	0	1	0	0	0	0	1209	1606	56	0	1705	0	ATRX	23	76855019	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	3043081	76855019	78415541	185	9178											
DRP2	1821	broad.mit.edu	37	chrX	100506020	100506020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattgctgagcaagtgAagcatcagaccaagtgctct	9	11	3	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:100506020A>G	ENST00000395209.3	+	16	2340	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	DRP2_ENST00000402866.1_Missense_Mutation_p.K605E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	605					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGCAAGTGAAGCATCAGAC	0.502																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1813-1815)Aag>Gag		dystrophin related protein 2							169	136	147					X																	100506020		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100506020A>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1813A>G	X.37:g.100506020A>G	ENSP00000378635:p.Lys605Glu					DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E|DRP2_ENST00000402866.1_Missense_Mutation_p.K605E	p.K605E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			16	2340	+			605					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1813A>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	33	5.278266	0.95459	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.06	6.06	0.98353	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94735	0.7913	10	0.87932	D	0	-23.2752	15.4998	0.75687	1.0:0.0:0.0:0.0	.	605	Q13474	DRP2_HUMAN	E	605;605;527;605	ENSP00000385038:K605E;ENSP00000378635:K605E;ENSP00000444752:K527E;ENSP00000441051:K605E	ENSP00000378635:K605E	K	+	1	0	DRP2	100392676	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.044000	0.60594	0.486000	0.48141	AAG		0.502	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		202	661	0	0	0	1	0	202	661					G	100506020	A	G	100506020	3	3	73	1	0	0	0	0	1	0	0	0	4780	247	9	4	1867	4	DRP2	23	100506020	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	23651001	100506020	54764540	186	9179											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011310	105011310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccatgttctggactccGcagaacaaggactttttgga	12	9	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:105011310G>A	ENST00000372582.1	+	11	2473	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A573T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	573					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTGGACTCCGCAGAACAAGG	0.433																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1717-1719)Gca>Aca		interleukin 1 receptor accessory protein-like 2							84	81	82					X																	105011310		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011310G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1717G>A	X.37:g.105011310G>A	ENSP00000361663:p.Ala573Thr					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A573T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.A178T	p.A573T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			11	2473	+			573					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1717G>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109021	0.37242	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04551	3.91;3.91;3.6	5.78	4.91	0.64330	.	0.083120	0.52532	N	0.000078	T	0.04407	0.0121	L	0.44542	1.39	0.38969	D	0.958716	P	0.43352	0.804	B	0.28553	0.091	T	0.48843	-0.8999	10	0.40728	T	0.16	.	12.8899	0.58066	0.0796:0.0:0.9204:0.0	.	573	Q9NP60	IRPL2_HUMAN	T	573;573;178	ENSP00000361663:A573T;ENSP00000344976:A573T;ENSP00000445576:A178T	ENSP00000344976:A573T	A	+	1	0	IL1RAPL2	104897966	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	6.010000	0.70753	1.189000	0.43028	0.600000	0.82982	GCA		0.433	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		6	741	0	0	0	1	0	6	741					A	105011310	G	A	105011310	3	1	73	1	0	0	0	0	1	0	0	0	7692	1087	38	1	1755	1	IL1RAPL2	23	105011310	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	4505290	105011310	50259250	187	9180											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		17	689						17	689	---	---	---	---	-	110406208	GAA	-	110406206	7	5	73	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-HZ-A77O-01A-11D-A33T-08	5394896	110406206	44864354	188	9181											
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	11	12	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3																			2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128	105	113					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys					DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		7	481	0	0	0	1	0	7	481					A	110644391	G	A	110644391	3	1	73	1	0	0	0	0	1	0	0	0	4329	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	238185	110644391	44626169	189	9182											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		8	600						8	600	---	---	---	---	-	135585050	AAG	-	135585048	7	5	73	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-HZ-A77O-01A-11D-A33T-08	24940657	135585048	19685512	190	9183											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		15	1262						15	1262	---	---	---	---	-	149984526	GTG	-	149984524	7	5	73	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HZ-A77O-01A-11D-A33T-08	14399476	149984524	5286036	191	9184											
OPN1LW	5956	broad.mit.edu	37	chrX	153420210	153420210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaagtgtggctggccatccGagcggtaagccccccgattc	12	15	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:153420210G>C	ENST00000369951.4	+	4	800	c.740G>C	c.(739-741)cGa>cCa	p.R247P	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	247					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCATCCGAGCGGTAAGC	0.567																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(739-741)cGa>cCa		opsin 1 (cone pigments), long-wave-sensitive							191	141	158					X																	153420210		2186	4245	6431	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420210G>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.740G>C	X.37:g.153420210G>C	ENSP00000358967:p.Arg247Pro					OPN1LW_ENST00000463296.1_Intron	p.R247P	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			4	800	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		247						Missense_Mutation	SNP	ENST00000369951.4	37	c.740G>C	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940087	0.52972	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.44083	0.93;0.93	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.064338	0.64402	D	0.000007	T	0.51227	0.1662	M	0.86343	2.81	0.47862	D	0.999536	B	0.25955	0.138	B	0.26969	0.075	T	0.60414	-0.7268	10	0.72032	D	0.01	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	247	P04000	OPSR_HUMAN	P	247;110	ENSP00000358967:R247P;ENSP00000402493:R110P	ENSP00000358967:R247P	R	+	2	0	OPN1LW	153073404	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	5.820000	0.69250	1.888000	0.54679	0.372000	0.22366	CGA		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		33	1492	0	0	0	1	0	33	1492					C	153420210	G	C	153420210	3	2	73	1	0	0	0	0	1	0	0	0	10919	1058	37	5	754	5	OPN1LW	23	153420210	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	3435686	153420210	1850350	192	9185											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		8	199						8	199	---	---	---	---	-	4772585	CCA	-	4772583	7	5	74	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-HZ-A77P-01A-11D-A33T-08		4772583	244478038	1	9186											
EXOSC10	5394	broad.mit.edu	37	chr1	11128120	11128120	+	Frame_Shift_Del	DEL	T	T	-													gtttcccaccgactgtttaaTttttttggctgcaatgcatt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:11128120delT	ENST00000376936.4	-	24	2621	c.2572delA	c.(2572-2574)attfs	p.I858fs	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	858					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GACTGTTTAATTTTTTTGGCT	0.478																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2572-2574)ttfs		exosome component 10							120	117	118					1																	11128120		2203	4300	6503	SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11128120delT	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2572delA	1.37:g.11128120delT	ENSP00000366135:p.Ile858fs					EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs|EXOSC10_ENST00000544779.1_3'UTR	p.I858fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	24	2621	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	858					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL	ENST00000376936.4	37	c.2572delA	CCDS30584.1																																																																																				0.478	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		7	475						7	475	---	---	---	---	-	11128120	T	-	11128120	7	5	74	1	0	1	0	1	0	0	0	0	5332	1493	52	0	93	0	EXOSC10	1	11128120	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	6355537	11128120	238122501	2	9187											
TMCO4	255104	broad.mit.edu	37	chr1	20009717	20009717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggtctgtggacatgGccaatttggaggtgtctccg	17	8	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:20009717G>A	ENST00000294543.6	-	16	1962	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	TMCO4_ENST00000375122.2_Missense_Mutation_p.A534V|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	574						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGTGGACATGGCCAATTTGGA	0.657																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1720-1722)gCc>gTc		transmembrane and coiled-coil domains 4							65	70	68					1																	20009717		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009717G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1721C>T	1.37:g.20009717G>A	ENSP00000294543:p.Ala574Val					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.A534V	p.A574V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1962	-		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)	574					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1721C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355876	0.41700	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.35236	1.35;1.32	4.28	4.28	0.50868	.	0.903450	0.09118	N	0.846116	T	0.29458	0.0734	L	0.29908	0.895	0.09310	N	1	B;B	0.26809	0.004;0.16	B;B	0.28305	0.004;0.088	T	0.11324	-1.0592	10	0.34782	T	0.22	-1.2179	11.0494	0.47878	0.0:0.1894:0.8106:0.0	.	574;534	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	V	574;534	ENSP00000294543:A574V;ENSP00000364264:A534V	ENSP00000294543:A574V	A	-	2	0	TMCO4	19882304	0.009000	0.17119	0.119000	0.21687	0.220000	0.24768	1.747000	0.38298	2.312000	0.78011	0.591000	0.81541	GCC		0.657	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		5	563	0	0	0	1	0	5	563					A	20009717	G	A	20009717	3	1	74	1	0	0	0	0	1	0	0	0	16050	1203	42	2	187	2	TMCO4	1	20009717	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8881597	20009717	229240904	3	9188											
EIF2C1	26523	broad.mit.edu	37	chr1	36383988	36383988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcacccacccatttgaGtttgacttctatctgtgcag	6	12	3	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:36383988G>A	ENST00000373204.4	+	17	2442	c.2229G>A	c.(2227-2229)gaG>gaA	p.E743E	AGO1_ENST00000373206.1_Silent_p.E668E	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	743	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACCCATTTGAGTTTGACTTCT	0.478																																						ENST00000373204.4																			0											c.(2227-2229)gaG>gaA		argonaute RISC catalytic component 1							306	277	287					1																	36383988		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36383988G>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2229G>A	1.37:g.36383988G>A						AGO1_ENST00000373206.1_Silent_p.E668E	p.E743E	NM_012199.2	NP_036331.1					17	2442	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.2229G>A	CCDS398.1																																																																																				0.478	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			21	1045	0	0	0	1	0	21	1045					A	36383988	G	A	36383988	2	1	74	1	0	0	0	0	0	0	0	1	5021	1020	36	2		2	EIF2C1	1	36383988	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16374271	36383988	212866633	4	9189											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		8	486						8	486	---	---	---	---	-	44447009	AGC	-	44447007	7	5	74	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-HZ-A77P-01A-11D-A33T-08	8063019	44447007	204803614	5	9190											
PTCH2	8643	broad.mit.edu	37	chr1	45297924	45297924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctctccctcctggcgtgCggtctgtatcagcatctgag	11	13	4	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:45297924C>T	ENST00000372192.3	-	3	485	c.355G>A	c.(355-357)Gca>Aca	p.A119T	PTCH2_ENST00000447098.2_Missense_Mutation_p.A119T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	119					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCGTGCGGTCTGTATC	0.587									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(355-357)Gca>Aca		patched 2							256	223	234					1																	45297924		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45297924C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.355G>A	1.37:g.45297924C>T	ENSP00000361266:p.Ala119Thr					PTCH2_ENST00000372192.3_Missense_Mutation_p.A119T	p.A119T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			3	366	-	Acute lymphoblastic leukemia(166;0.155)		119					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.355G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682229	0.29872	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92348	-3.02;-3.02	4.67	1.71	0.24356	.	0.141093	0.32785	N	0.005643	D	0.87038	0.6078	L	0.46157	1.445	0.25495	N	0.987606	B	0.21520	0.057	B	0.23018	0.043	T	0.77161	-0.2689	10	0.48119	T	0.1	-2.0844	8.1039	0.30874	0.235:0.2467:0.5183:0.0	.	119	Q9Y6C5	PTC2_HUMAN	T	119	ENSP00000389703:A119T;ENSP00000361266:A119T	ENSP00000361266:A119T	A	-	1	0	PTCH2	45070511	0.832000	0.29368	0.277000	0.24703	0.447000	0.32167	1.199000	0.32235	0.186000	0.20125	-0.268000	0.10319	GCA		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		8	1385	0	0	0	1	0	8	1385					T	45297924	C	T	45297924	3	4	74	1	0	0	0	0	1	0	0	0	12778	768	27	1	3356	1	PTCH2	1	45297924	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	850917	45297924	203952697	6	9191											
C1orf87	127795	broad.mit.edu	37	chr1	60505830	60505830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtcttcatttgttgtcCcacttgggctctggccaata	9	11	3	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:60505830C>A	ENST00000371201.3	-	5	613	c.506G>T	c.(505-507)gGg>gTg	p.G169V	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	169							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTTGTTGTCCCACTTGGGCT	0.443																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(505-507)gGg>gTg		chromosome 1 open reading frame 87							77	83	81					1																	60505830		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60505830C>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.506G>T	1.37:g.60505830C>A	ENSP00000360244:p.Gly169Val					C1orf87_ENST00000450089.2_Intron	p.G169V	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			5	613	-			169					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.506G>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064301	0.01934	.	.	ENSG00000162598	ENST00000371201	T	0.17054	2.3	5.18	1.96	0.26148	.	0.298004	0.24492	N	0.038048	T	0.10723	0.0262	L	0.38175	1.15	0.09310	N	1	B	0.26809	0.16	B	0.25291	0.059	T	0.18777	-1.0326	10	0.33940	T	0.23	-0.638	3.8549	0.08971	0.3723:0.4397:0.0:0.188	.	169	Q8N0U7	CA087_HUMAN	V	169	ENSP00000360244:G169V	ENSP00000360244:G169V	G	-	2	0	C1orf87	60278418	0.000000	0.05858	0.304000	0.25085	0.013000	0.08279	0.043000	0.13971	0.728000	0.32382	0.650000	0.86243	GGG		0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		5	487	1	0	0.0215528	1	0.0217148	5	487					A	60505830	C	A	60505830	3	1	74	1	0	0	0	0	1	0	0	0	2071	623	22	3	1166	3	C1orf87	1	60505830	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	15207906	60505830	188744791	7	9192											
FOXD3	27022	broad.mit.edu	37	chr1	63789346	63789346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaagatcccccgcgagcCgggcaacccgggcaagggca	14	16	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:63789346C>T	ENST00000371116.2	+	1	617	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCGCGAGCCGGGCAACCCG	0.632																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2																			0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(616-618)cCg>cTg		forkhead box D3							86	101	96					1																	63789346		2203	4300	6503	SO:0001583	missense	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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.chr1:63789346C>T	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.617C>T	1.37:g.63789346C>T	ENSP00000360157:p.Pro206Leu					RP4-792G4.2_ENST00000427268.1_RNA	p.P206L	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	617	+			206					Q9BYM2|Q9UDD1	Missense_Mutation	SNP	ENST00000371116.2	37	c.617C>T	CCDS624.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038446	0.75617	.	.	ENSG00000187140	ENST00000371116	D	0.95412	-3.7	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.96288	0.8789	M	0.72353	2.195	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	D	0.96508	0.9376	10	0.87932	D	0	.	13.9222	0.63940	0.0:1.0:0.0:0.0	.	206	Q9UJU5	FOXD3_HUMAN	L	206	ENSP00000360157:P206L	ENSP00000360157:P206L	P	+	2	0	FOXD3	63561934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.344000	0.44010	1.759000	0.51996	0.460000	0.39030	CCG		0.632	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			94	762	0	0	0	1	0	94	762					T	63789346	C	T	63789346	3	4	74	1	0	0	0	0	1	0	0	0	6023	652	23	1	619	1	FOXD3	1	63789346	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	3283516	63789346	185461275	8	9193											
HIPK1	204851	broad.mit.edu	37	chr1	114516040	114516040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaccaacaccagtttgCcacccaatcctacattgggt	6	14	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:114516040C>T	ENST00000369558.1	+	16	3771	c.3539C>T	c.(3538-3540)gCc>gTc	p.A1180V	HIPK1_ENST00000369555.2_Missense_Mutation_p.A1135V|HIPK1_ENST00000340480.4_Missense_Mutation_p.A806V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A1180V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A1135V|HIPK1_ENST00000406344.1_Missense_Mutation_p.A786V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A1146V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A786V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1180					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCAGTTTGCCACCCAATCC	0.542																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3538-3540)gCc>gTc		homeodomain interacting protein kinase 1							141	134	136					1																	114516040		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114516040C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3539C>T	1.37:g.114516040C>T	ENSP00000358571:p.Ala1180Val					HIPK1_ENST00000340480.4_Missense_Mutation_p.A806V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A786V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A1135V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A1146V|HIPK1_ENST00000369555.2_Missense_Mutation_p.A1135V|HIPK1_ENST00000406344.1_Missense_Mutation_p.A786V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A1180V	p.A1180V			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3771	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1180					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.3539C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780030	0.70222	.	.	ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.46;0.4;0.4;0.46;0.39;3.46;2.54;2.54	5.69	4.77	0.60923	.	0.079709	0.52532	D	0.000074	T	0.58395	0.2119	L	0.50333	1.59	0.80722	D	1	D;D;B	0.76494	0.999;0.969;0.399	D;P;B	0.72075	0.976;0.688;0.2	T	0.62506	-0.6840	10	0.51188	T	0.08	.	16.0254	0.80538	0.1356:0.8644:0.0:0.0	.	472;786;1180	E9PCF6;Q86Z02-4;Q86Z02	.;.;HIPK1_HUMAN	V	1251;1180;1135;1135;1180;1146;806;786;786	ENSP00000407442:A1251V;ENSP00000409673:A1180V;ENSP00000358567:A1135V;ENSP00000358568:A1135V;ENSP00000358571:A1180V;ENSP00000358574:A1146V;ENSP00000340956:A806V;ENSP00000358566:A786V;ENSP00000384960:A786V	ENSP00000340956:A806V	A	+	2	0	HIPK1	114317563	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.625000	0.83145	1.390000	0.46547	-0.309000	0.09137	GCC		0.542	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		6	691	0	0	0	1	0	6	691					T	114516040	C	T	114516040	3	4	74	1	0	0	0	0	1	0	0	0	7146	739	26	2	3699	2	HIPK1	1	114516040	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	50726694	114516040	134734581	9	9194											
FLG	2312	broad.mit.edu	37	chr1	152286884	152286885	+	Frame_Shift_Ins	INS	-	-	T													ggtgaatatccttttctttcINSttttttttcagaactagatt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:152286884_152286885insT	ENST00000368799.1	-	3	512_513	c.477_478insA	c.(475-480)aaagaafs	p.E160fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	160					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)			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)			CCTTTTCTTTCTTTTTTTTCAG	0.342									Ichthyosis																													ENST00000368799.1																			0				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						c.(475-480)aaaaagfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286884_152286885insT	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.478dupA	1.37:g.152286892_152286892dupT	ENSP00000357789:p.Glu160fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.KK159fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	512_513	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		159					Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.477_478insA	CCDS30860.1																																																																																				0.342	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	478						8	478	---	---	---	---	T	152286885	-	T	152286884	7	5	74	1	0	1	1	0	0	0	0	0	5947	922	32	0	11711	0	FLG	1	152286884	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	37770844	152286884	96963737	10	9195											
ATP1A2	477	broad.mit.edu	37	chr1	160098814	160098814	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacgtggacggccctgtctCgaattgctggtctctgcaac	11	13	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:160098814C>T	ENST00000361216.3	+	10	1350	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	421					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)			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)			GGCCCTGTCTCGAATTGCTGG	0.562																																						ENST00000361216.3																			0				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						c.(1261-1263)Cga>Tga		ATPase, Na+/K+ transporting, alpha 2 polypeptide							44	36	39					1																	160098814		2203	4300	6503	SO:0001587	stop_gained	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098814C>T	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.1261C>T	1.37:g.160098814C>T	ENSP00000354490:p.Arg421*					ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*	p.R421*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		10	1350	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		421					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Nonsense_Mutation	SNP	ENST00000361216.3	37	c.1261C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313929	0.97467	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.13	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6931	0.51527	0.322:0.678:0.0:0.0	.	.	.	.	X	421;421;124	.	ENSP00000354490:R421X	R	+	1	2	ATP1A2	158365438	0.565000	0.26610	0.987000	0.45799	0.612000	0.37316	1.260000	0.32968	0.472000	0.27344	0.561000	0.74099	CGA		0.562	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	109	0	0	0	1	0	10	109					T	160098814	C	T	160098814	4	4	74	1	0	0	0	0	0	1	0	0	1130	876	31	1	1299	1	ATP1A2	1	160098814	Nonsense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	7811930	160098814	89151807	11	9196											
CEP350	9857	broad.mit.edu	37	chr1	179989235	179989235	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaattttgcataaggattttGaatctattttaccaaccagg	7	6	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989235G>T	ENST00000367607.3	+	12	2744	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	776					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGGATTTTGAATCTATTTT	0.403																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2326-2328)Gaa>Taa		centrosomal protein 350kDa							107	108	108					1																	179989235		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:179989235G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2326G>T	1.37:g.179989235G>T	ENSP00000356579:p.Glu776*						p.E776*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2744	+			776					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.2326G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	42	9.531776	0.99196	.	.	ENSG00000135837	ENST00000367607	.	.	.	6.02	6.02	0.97574	.	0.258735	0.26812	N	0.022367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3137	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	X	776	.	.	E	+	1	0	CEP350	178255858	1.000000	0.71417	0.991000	0.47740	0.696000	0.40369	6.394000	0.73223	2.865000	0.98341	0.655000	0.94253	GAA		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		61	500	1	0	7.10663e-31	1	8.07024e-31	61	500					T	179989235	G	T	179989235	4	4	74	1	0	0	0	0	0	1	0	0	3263	1291	45	3	2368	3	CEP350	1	179989235	Nonsense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	19890421	179989235	69261386	12	9197			1	16		3	3	559	N	TCAGAAG_G	7.065679e-06
CEP350	9857	broad.mit.edu	37	chr1	179989588	179989594	+	Frame_Shift_Del	DEL	TCAGAAG	TCAGAAG	-													gatgttttctctgccagaatTcagaagatgctgggaagctg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989588_179989594delTCAGAAG	ENST00000367607.3	+	12	3097_3103	c.2679_2685delTCAGAAG	c.(2677-2685)attcagaagfs	p.IQK893fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	893					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGCCAGAATTCAGAAGATGCTGGGAA	0.425																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2677-2685)atfs		centrosomal protein 350kDa																																				SO:0001589	frameshift_variant	9857					centrosome|nucleus|spindle		g.chr1:179989588_179989594delTCAGAAG	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2679_2685delTCAGAAG	1.37:g.179989588_179989594delTCAGAAG	ENSP00000356579:p.Ile893fs						p.IQK893fs	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	3097_3103	+			893					O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	37	c.2679_2685delTCAGAAG	CCDS1336.1																																																																																				0.425	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		47	460						47	460	---	---	---	---	-	179989594	TCAGAAG	-	179989588	7	5	74	1	0	1	0	1	0	0	0	0	3263	1771	62	0	2721	0	CEP350	1	179989588	Frame_Shift_Del	DEL	TCAGAAG	TCGA-HZ-A77P-01A-11D-A33T-08	353	179989588	69261033	13	9198			1	16		3	3	559	N	TCAGAAG_G	7.065679e-06
CEP350	9857	broad.mit.edu	37	chr1	179989793	179989793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agactgactcttctagctctGatatgcaagcctgttctcaa	7	11	4	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989793G>C	ENST00000367607.3	+	12	3302	c.2884G>C	c.(2884-2886)Gat>Cat	p.D962H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	962					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCTAGCTCTGATATGCAAGC	0.468																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2884-2886)Gat>Cat		centrosomal protein 350kDa							114	118	117					1																	179989793		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989793G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2884G>C	1.37:g.179989793G>C	ENSP00000356579:p.Asp962His						p.D962H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	3302	+			962					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2884G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593039	0.46214	.	.	ENSG00000135837	ENST00000367607	T	0.14022	2.54	6.02	6.02	0.97574	.	0.124193	0.35585	N	0.003120	T	0.19565	0.0470	L	0.29908	0.895	0.39682	D	0.970914	D;B	0.54397	0.966;0.303	P;B	0.52710	0.707;0.095	T	0.00756	-1.1579	9	.	.	.	.	17.26	0.87067	0.0:0.0:1.0:0.0	.	962;962	E7EU22;Q5VT06	.;CE350_HUMAN	H	962	ENSP00000356579:D962H	.	D	+	1	0	CEP350	178256416	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.938000	0.87678	2.865000	0.98341	0.655000	0.94253	GAT		0.468	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		86	531	0	0	0	1	0	86	531					C	179989793	G	C	179989793	3	2	74	1	0	0	0	0	1	0	0	0	3263	1290	45	5	2926	5	CEP350	1	179989793	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	205	179989793	69260828	14	9199			1	16		3	3	559	N	TCAGAAG_G	7.065679e-06
CACNA1E	777	broad.mit.edu	37	chr1	181453073	181453073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcagaactgtttcaccGtcaacagatccctgttcatc	7	14	3	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:181453073G>A	ENST00000367573.2	+	1	193	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V65I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V16I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V65I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V16I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V65I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	65					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGTTTCACCGTCAACAGATC	0.537																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(193-195)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit							135	142	140					1																	181453073		1917	4126	6043	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181453073G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.193G>A	1.37:g.181453073G>A	ENSP00000356545:p.Val65Ile					CACNA1E_ENST00000367570.1_Missense_Mutation_p.V65I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V65I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V16I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V16I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V65I	p.V65I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			1	358	+			65					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.193G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138456	0.56936	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	T;T;T;D;D;T;T	0.96168	0.57;0.57;0.57;-3.93;-3.93;0.57;0.57	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000009	D	0.97281	0.9111	M	0.81179	2.53	0.80722	D	1	D	0.71674	0.998	P	0.58130	0.833	D	0.97704	1.0186	10	0.87932	D	0	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	65	Q15878-3	.	I	65;65;65;16;16;65;65	ENSP00000432038:V65I;ENSP00000356542:V65I;ENSP00000434814:V65I;ENSP00000350183:V16I;ENSP00000351101:V16I;ENSP00000353222:V65I;ENSP00000356545:V65I	ENSP00000350183:V16I	V	+	1	0	CACNA1E	179719696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.667000	0.90743	0.561000	0.74099	GTC		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	937	0	0	0	1	0	7	937					A	181453073	G	A	181453073	3	1	74	1	0	0	0	0	1	0	0	0	2549	1145	40	1	195	1	CACNA1E	1	181453073	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	1463280	181453073	67797548	15	9200											
ZNF648	127665	broad.mit.edu	37	chr1	182027016	182027016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagcggtgccctctttttCggcctccccaccatcttcat	7	17	4	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:182027016C>T	ENST00000339948.3	-	2	337	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTCTTTTTCGGCCTCCCCA	0.577																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(130-132)Gaa>Aaa		zinc finger protein 648							94	91	92					1																	182027016		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182027016C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.130G>A	1.37:g.182027016C>T	ENSP00000344129:p.Glu44Lys						p.E44K	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	337	-			44					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.130G>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262519	0.10294	.	.	ENSG00000179930	ENST00000339948	T	0.07114	3.22	2.76	0.83	0.18854	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.07813	T	0.8	.	9.5485	0.39295	0.0:0.782:0.0:0.218	.	44	Q5T619	ZN648_HUMAN	K	44	ENSP00000344129:E44K	ENSP00000344129:E44K	E	-	1	0	ZNF648	180293639	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	-0.031000	0.13781	-1.814000	0.00607	GAA		0.577	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		48	405	0	0	0	1	0	48	405					T	182027016	C	T	182027016	3	4	74	1	0	0	0	0	1	0	0	0	18116	893	31	1	1580	1	ZNF648	1	182027016	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	573943	182027016	67223605	16	9201											
ASPM	259266	broad.mit.edu	37	chr1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagattgaagcaccagtaccGcatgacggagttcaatatac	9	9	1	3	rs368693433		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219	213	215		,5849	5.6	0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	1.37:g.197072532G>A	ENSP00000356379:p.Ala1950Val					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A1950V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6105	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5849C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	946	0	0	0	1	0	6	946					A	197072532	G	A	197072532	3	1	74	1	0	0	0	0	1	0	0	0	1057	1087	38	1	4628	1	ASPM	1	197072532	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	15045516	197072532	52178089	17	9202											
CDK18	5129	broad.mit.edu	37	chr1	205493455	205493455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagatctgcccaagccGctcagccgcatgtcccgccg	10	19	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:205493455G>A	ENST00000360066.2	+	4	670	c.369G>A	c.(367-369)ccG>ccA	p.P123P	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Silent_p.P123P|CDK18_ENST00000506784.1_Silent_p.P153P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	121							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGCCCAAGCCGCTCAGCCGCA	0.612											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(367-369)ccG>ccA		cyclin-dependent kinase 18							80	85	83					1																	205493455		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205493455G>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.369G>A	1.37:g.205493455G>A			OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2152	CDK18_ENST00000429964.2_Silent_p.P123P|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Silent_p.P153P	p.P123P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			4	670	+			121					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.369G>A	CCDS44300.1																																																																																				0.612	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		6	750	0	0	0	1	0	6	750					A	205493455	G	A	205493455	2	1	74	1	0	0	0	0	0	0	0	1	3143	1074	38	1		1	CDK18	1	205493455	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8420923	205493455	43757166	18	9203											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)			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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	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.chr2:26693554_26693556delCTT	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			16	489						16	489	---	---	---	---	-	26693556	CTT	-	26693554	7	5	74	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-HZ-A77P-01A-11D-A33T-08		26693554	216505819	19	9204											
UGP2	7360	broad.mit.edu	37	chr2	64117237	64117237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagattatctaagaagatTtgaaagtataccagatatgc	7	5	2	5			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:64117237T>C	ENST00000337130.5	+	9	1813	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	UGP2_ENST00000445915.2_Missense_Mutation_p.F455S|UGP2_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	446					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTAAGAAGATTTGAAAGTATA	0.303																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(1336-1338)tTt>tCt		UDP-glucose pyrophosphorylase 2							76	79	78					2																	64117237		2202	4300	6502	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64117237T>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1337T>C	2.37:g.64117237T>C	ENSP00000338703:p.Phe446Ser					UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S|UGP2_ENST00000394417.2_Missense_Mutation_p.F435S	p.F446S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			9	1813	+			446					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.1337T>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881893	0.91740	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.82	5.82	0.92795	.	0.044427	0.85682	D	0.000000	T	0.59514	0.2199	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72127	-0.4384	10	0.87932	D	0	-9.7442	16.1814	0.81903	0.0:0.0:0.0:1.0	.	455;446	E7EUC7;Q16851	.;UGPA_HUMAN	S	435;435;446;455	ENSP00000377939:F435S;ENSP00000420793:F435S;ENSP00000338703:F446S;ENSP00000411803:F455S	ENSP00000338703:F446S	F	+	2	0	UGP2	63970741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	TTT		0.303	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		28	277	0	0	0	1	0	28	277					C	64117237	T	C	64117237	3	2	74	1	0	0	0	0	1	0	0	0	16997	1841	64	4	1371	4	UGP2	2	64117237	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	37423683	64117237	179082136	20	9205											
POLR1A	25885	broad.mit.edu	37	chr2	86270262	86270262	+	Frame_Shift_Del	DEL	T	T	-													gctctgaagtggtggagagcTtttttgggatctgctctgga							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:86270262delT	ENST00000263857.6	-	23	3570	c.3192delA	c.(3190-3192)aaafs	p.K1064fs	POLR1A_ENST00000409681.1_Frame_Shift_Del_p.K1064fs			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1064					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTGGAGAGCTTTTTTGGGAT	0.408																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(3190-3192)aafs		polymerase (RNA) I polypeptide A, 194kDa							197	191	193					2																	86270262		1887	4126	6013	SO:0001589	frameshift_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86270262delT	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3192delA	2.37:g.86270262delT	ENSP00000263857:p.Lys1064fs					POLR1A_ENST00000409681.1_Frame_Shift_Del_p.K1064fs	p.K1064fs			O95602	RPA1_HUMAN			23	3570	-			1064					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Del	DEL	ENST00000263857.6	37	c.3192delA	CCDS42706.1																																																																																				0.408	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		9	1193						9	1193	---	---	---	---	-	86270262	T	-	86270262	7	5	74	1	0	1	0	1	0	0	0	0	12251	1606	56	0	2018	0	POLR1A	2	86270262	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	22153025	86270262	156929111	21	9206											
PSD4	23550	broad.mit.edu	37	chr2	113942980	113942980	+	Frame_Shift_Del	DEL	T	T	-													ggctggcagagaggaggtccTttttggccccaggtgactct							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:113942980delT	ENST00000245796.6	+	4	1407	c.1212delT	c.(1210-1212)cctfs	p.P404fs	PSD4_ENST00000441564.3_Frame_Shift_Del_p.P404fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	404					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGAGGTCCTTTTTGGCCCC	0.567																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1210-1212)ccfs		pleckstrin and Sec7 domain containing 4							91	97	95					2																	113942980		2203	4300	6503	SO:0001589	frameshift_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942980delT	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1212delT	2.37:g.113942980delT	ENSP00000245796:p.Pro404fs					PSD4_ENST00000441564.2_Frame_Shift_Del_p.P404fs	p.P404fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			4	1407	+			404					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL	ENST00000245796.6	37	c.1212delT	CCDS33276.1																																																																																				0.567	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	1349						7	1349	---	---	---	---	-	113942980	T	-	113942980	7	5	74	1	0	1	0	1	0	0	0	0	12696	1596	56	0	1222	0	PSD4	2	113942980	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	27672718	113942980	129256393	22	9207											
YSK4	80122	broad.mit.edu	37	chr2	135744610	135744610	+	Frame_Shift_Del	DEL	T	T	-													agatgcaaggaaatgattgcTttttaggtttctgagtccgg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:135744610delT	ENST00000375845.3	-	7	1862	c.1832delA	c.(1831-1833)aagfs	p.K611fs	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Frame_Shift_Del_p.K498fs|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Frame_Shift_Del_p.K628fs|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	611							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AAATGATTGCTTTTTAGGTTT	0.438																																						ENST00000375845.3																			0											c.(1831-1833)agfs		mitogen-activated protein kinase kinase kinase 19							150	159	156					2																	135744610		2203	4300	6503	SO:0001589	frameshift_variant	80122							g.chr2:135744610delT	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1832delA	2.37:g.135744610delT	ENSP00000365005:p.Lys611fs					MAP3K19_ENST00000392915.1_Frame_Shift_Del_p.K628fs|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Frame_Shift_Del_p.K498fs|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	p.K611fs	NM_025052.3	NP_079328.3					7	1862	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Frame_Shift_Del	DEL	ENST00000375845.3	37	c.1832delA	CCDS2176.2																																																																																				0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		7	1653						7	1653	---	---	---	---	-	135744610	T	-	135744610	7	5	74	1	0	1	0	1	0	0	0	0	17549	1609	56	0	2170	0	YSK4	2	135744610	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	21801630	135744610	107454763	23	9208											
XIRP2	129446	broad.mit.edu	37	chr2	168104998	168105000	+	In_Frame_Del	DEL	CCT	CCT	-													gttcatcgatgtttctgccgCctcctcctcctccaactcca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:168104998_168105000delCCT	ENST00000409195.1	+	9	7185_7187	c.7096_7098delCCT	c.(7096-7098)cctdel	p.P2370del	XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2195					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)				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						GTTTCTGCCGCCTCCTCCTCCTC	0.468																																						ENST00000409195.1																			0				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						c.(7096-7098)del		xin actin-binding repeat containing 2																																				SO:0001651	inframe_deletion	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104998_168105000delCCT	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.7096_7098delCCT	2.37:g.168105007_168105009delCCT	ENSP00000386840:p.Pro2370del					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del	p.P2370del	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7185_7187	+			2195					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	In_Frame_Del	DEL	ENST00000409195.1	37	c.7096_7098delCCT	CCDS42769.1																																																																																				0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	785						7	785	---	---	---	---	-	168105000	CCT	-	168104998	7	5	74	1	0	1	0	1	0	0	0	0	17484	739	26	0	7126	0	XIRP2	2	168104998	In_Frame_Del	DEL	CCT	TCGA-HZ-A77P-01A-11D-A33T-08	32360388	168104998	75094375	24	9209											
LRP2	4036	broad.mit.edu	37	chr2	170063689	170063689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttaagaagaacacggcGgtaagtagtattgatccgca	11	7	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:170063689G>A	ENST00000263816.3	-	39	6826	c.6541C>T	c.(6541-6543)Cgc>Tgc	p.R2181C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2181					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGAACACGGCGGTAAGTAGTA	0.418																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6541-6543)Cgc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						88	86	87					2																	170063689		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063689G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6541C>T	2.37:g.170063689G>A	ENSP00000263816:p.Arg2181Cys						p.R2181C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6826	-			2181					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6541C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467030	0.84533	.	.	ENSG00000081479	ENST00000263816	D	0.93659	-3.26	5.98	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96608	0.8893	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97145	0.9827	10	0.87932	D	0	.	15.3261	0.74164	0.0667:0.0:0.9333:0.0	.	2181	P98164	LRP2_HUMAN	C	2181	ENSP00000263816:R2181C	ENSP00000263816:R2181C	R	-	1	0	LRP2	169771935	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.869000	0.99810	1.539000	0.49286	0.650000	0.86243	CGC		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	493	0	0	0	1	0	5	493					A	170063689	G	A	170063689	3	1	74	1	0	0	0	0	1	0	0	0	8994	1116	39	1	7590	1	LRP2	2	170063689	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	1958691	170063689	73135684	25	9210											
OSBPL6	114880	broad.mit.edu	37	chr2	179196281	179196281	+	Frame_Shift_Del	DEL	T	T	-													ggtgtttggttcttgcagcgTttttttgtcctggataatgg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:179196281delT	ENST00000190611.4	+	6	697	c.321delT	c.(319-321)cgtfs	p.R107fs	OSBPL6_ENST00000315022.2_Frame_Shift_Del_p.R86fs|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000357080.4_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000359685.3_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000409631.1_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000409045.3_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000392505.2_Frame_Shift_Del_p.R107fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTTGCAGCGTTTTTTTGTCC	0.363																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(319-321)cgfs		oxysterol binding protein-like 6							233	233	233					2																	179196281		2203	4300	6503	SO:0001589	frameshift_variant	114880				lipid transport		lipid binding	g.chr2:179196281delT	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.321delT	2.37:g.179196281delT	ENSP00000190611:p.Arg107fs					OSBPL6_ENST00000392505.2_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000359685.3_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000357080.4_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Frame_Shift_Del_p.R86fs|OSBPL6_ENST00000409631.1_Frame_Shift_Del_p.R107fs|OSBPL6_ENST00000409045.3_Frame_Shift_Del_p.R107fs	p.R107fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		6	697	+			107			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Frame_Shift_Del	DEL	ENST00000190611.4	37	c.321delT	CCDS2277.1																																																																																				0.363	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		7	992						7	992	---	---	---	---	-	179196281	T	-	179196281	7	5	74	1	0	1	0	1	0	0	0	0	11323	1712	60	0	378	0	OSBPL6	2	179196281	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	9132592	179196281	64003092	26	9211											
CWC22	57703	broad.mit.edu	37	chr2	180815411	180815411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaacatctggtttctgCgccacaatgacctttggtgt	9	11	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:180815411C>T	ENST00000410053.3	-	19	2267	c.1968G>A	c.(1966-1968)gcG>gcA	p.A656A	CWC22_ENST00000295749.6_Silent_p.A656A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	656			A -> V (in dbSNP:rs17778270).		mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTGGTTTCTGCGCCACAATGA	0.408																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(1966-1968)gcG>gcA		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							163	165	165					2																	180815411		1995	4170	6165	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180815411C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1968G>A	2.37:g.180815411C>T						CWC22_ENST00000295749.6_Silent_p.A656A	p.A656A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			19	2267	-			656		A -> V (in dbSNP:rs17778270).			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.1968G>A	CCDS46465.1																																																																																				0.408	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		6	677	0	0	0	1	0	6	677					T	180815411	C	T	180815411	2	4	74	1	0	0	0	0	0	0	0	1	4079	755	27	1		1	CWC22	2	180815411	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	1619130	180815411	62383962	27	9212											
FZD7	8324	broad.mit.edu	37	chr2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacctggtggacatgCggcgcttcagctacccagag	11	14	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	280					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(838-840)Cgg>Tgg		frizzled family receptor 7							116	117	117					2																	202900208		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900208C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.838C>T	2.37:g.202900208C>T	ENSP00000286201:p.Arg280Trp		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R280W	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	899	+			280					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.838C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097608	0.56075	.	.	ENSG00000155760	ENST00000286201	D	0.82893	-1.66	5.13	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.71036	2.16	0.58432	D	0.999994	D	0.76494	0.999	P	0.61658	0.892	D	0.89101	0.3489	10	0.72032	D	0.01	.	14.0995	0.65046	0.2941:0.7059:0.0:0.0	.	280	O75084	FZD7_HUMAN	W	280	ENSP00000286201:R280W	ENSP00000286201:R280W	R	+	1	2	FZD7	202608453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.396000	0.34531	0.677000	0.31305	0.563000	0.77884	CGG		0.662	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		7	1312	0	0	0	1	0	7	1312					T	202900208	C	T	202900208	3	4	74	1	0	0	0	0	1	0	0	0	6162	759	27	1	840	1	FZD7	2	202900208	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	22084797	202900208	40299165	28	9213											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	203						8	203	---	---	---	---	T	234394237	-	T	234394236	7	5	74	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	31494028	234394236	8805137	29	9214											
SEC13	6396	broad.mit.edu	37	chr3	10354280	10354280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgaggagtcgtgtcccGcatgctcgtggctcttctcc	11	14	2	1	rs371793854		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:10354280G>A	ENST00000350697.3	-	4	424	c.299C>T	c.(298-300)gCg>gTg	p.A100V	SEC13_ENST00000337354.4_Missense_Mutation_p.A103V|SEC13_ENST00000383801.2_Missense_Mutation_p.A146V|SEC13_ENST00000397117.1_Missense_Mutation_p.A86V|SEC13_ENST00000397109.3_Missense_Mutation_p.A86V	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	100					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GTCGTGTCCCGCATGCTCGTG	0.592																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(256-258)gCg>gTg		SEC13 homolog (S. cerevisiae)		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	117	121	120		299,257	4.1	0.1	3		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEC13	NM_183352.1,NM_001136232.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	100/323,86/309	10354280	1,13005	2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10354280G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.299C>T	3.37:g.10354280G>A	ENSP00000312122:p.Ala100Val					SEC13_ENST00000337354.4_Missense_Mutation_p.A103V|SEC13_ENST00000383801.2_Missense_Mutation_p.A146V|SEC13_ENST00000350697.3_Missense_Mutation_p.A100V|SEC13_ENST00000397109.3_Missense_Mutation_p.A86V	p.A86V			P55735	SEC13_HUMAN			4	848	-			100					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.257C>T	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775890	0.31411	0.0	1.16E-4	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;0.22;0.22	4.93	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.166722	0.52532	D	0.000064	T	0.45736	0.1357	L	0.28694	0.88	0.30198	N	0.798863	B;B;B;B;B	0.31859	0.343;0.324;0.298;0.17;0.081	B;B;B;B;B	0.17433	0.016;0.008;0.018;0.007;0.005	T	0.51332	-0.8719	10	0.59425	D	0.04	.	10.9665	0.47416	0.0916:0.0:0.9084:0.0	.	100;100;86;146;100	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	V	86;103;100;86;146;100	ENSP00000380298:A86V;ENSP00000336566:A103V;ENSP00000312122:A100V;ENSP00000380306:A86V;ENSP00000373312:A146V	ENSP00000336566:A103V	A	-	2	0	SEC13	10329280	1.000000	0.71417	0.124000	0.21820	0.198000	0.23893	5.610000	0.67668	1.061000	0.40601	0.561000	0.74099	GCG		0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			6	600	0	0	0	1	0	6	600					A	10354280	G	A	10354280	3	1	74	1	0	0	0	0	1	0	0	0	14030	1087	38	1	693	1	SEC13	3	10354280	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		10354280	187668150	30	9215											
ATP2B2	491	broad.mit.edu	37	chr3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagggagatgatggcgGcaatctccaggatgatgagc	15	10	1	4			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:10452358G>A	ENST00000352432.4	-	2	410	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A114V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(340-342)gCc>gTc		ATPase, Ca++ transporting, plasma membrane 2							177	185	182					3																	10452358		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452358G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.341C>T	3.37:g.10452358G>A	ENSP00000324172:p.Ala114Val					ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V	p.A114V			Q01814	AT2B2_HUMAN			5	916	-			114					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.341C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774816	0.96922	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94931	-1.87;-1.87;-1.87;-1.87;-1.87;-3.56	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.997	D;P;D	0.81914	0.995;0.897;0.947	D	0.98630	1.0671	10	0.87932	D	0	-37.8211	19.7543	0.96284	0.0:0.0:1.0:0.0	.	114;126;114	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	114;114;114;114;114;80;1;114	ENSP00000324172:A114V;ENSP00000373311:A114V;ENSP00000380267:A114V;ENSP00000353414:A114V;ENSP00000344677:A114V;ENSP00000414854:A1V	ENSP00000342954:A114V	A	-	2	0	ATP2B2	10427358	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCC		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		7	1347	0	0	0	1	0	7	1347					A	10452358	G	A	10452358	3	1	74	1	0	0	0	0	1	0	0	0	1141	1203	42	2	3474	2	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	98078	10452358	187570072	31	9216											
TMEM40	55287	broad.mit.edu	37	chr3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-													tttaaatctctgctatacctGaggaggaggaggatgaagaa							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tcctca>tca	p.69_70SS>S	TMEM40_ENST00000264728.8_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.85_86SS>S|TMEM40_ENST00000435575.1_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(205-210)tca>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790156_12790158delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.207_209delCTC	3.37:g.12790165_12790167delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	563_565	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.207_209delCTC	CCDS2613.1																																																																																				0.394	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	760						7	760	---	---	---	---	-	12790158	GAG	-	12790156	7	5	74	1	0	1	0	1	0	0	0	0	16215	1294	45	0	532	0	TMEM40	3	12790156	In_Frame_Del	DEL	GAG	TCGA-HZ-A77P-01A-11D-A33T-08	2337798	12790156	185232274	32	9217											
RFTN1	23180	broad.mit.edu	37	chr3	16535368	16535368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctaacttgttcaatccGcaacccatttcagcagctgc	5	14	3	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:16535368G>A	ENST00000334133.4	-	2	281	c.9C>T	c.(7-9)tgC>tgT	p.C3C		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	3					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTCAATCCGCAACCCATTT	0.418																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(7-9)tgC>tgT		raftlin, lipid raft linker 1							104	113	110					3																	16535368		2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16535368G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.9C>T	3.37:g.16535368G>A							p.C3C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			2	281	-			3					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.9C>T	CCDS33712.1																																																																																				0.418	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		9	881	0	0	0	1	0	9	881					A	16535368	G	A	16535368	2	1	74	1	0	0	0	0	0	0	0	1	13308	1079	38	1		1	RFTN1	3	16535368	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	3745212	16535368	181487062	33	9218											
TBC1D5	9779	broad.mit.edu	37	chr3	17300085	17300086	+	Splice_Site	INS	-	-	A													cactggtcttggatttctctINSaaaaaaaaatacatttttaa					rs566419471|rs546735695	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:17300085_17300086insA	ENST00000253692.7	-	16	2910		c.e16-2		TBC1D5_ENST00000429924.2_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site|TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000414318.2_Splice_Site	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5							retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGGATTTCTCTAAAAAAAAATA	0.312																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.e16-2		TBC1 domain family, member 5			,,	14,4238		0,14,2112					,,	5.8	1			71	14,8238		0,14,4112	no	splice-3,splice-3,splice-3	TBC1D5	NM_014744.2,NM_001134381.1,NM_001134380.1	,,	0,28,6224	A1A1,A1R,RR		0.1697,0.3293,0.2239	,,	,,		28,12476				SO:0001630	splice_region_variant	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17300085_17300086insA	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1246-2->T	3.37:g.17300094_17300094dupA						TBC1D5_ENST00000429924.2_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site|TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000414318.2_Splice_Site		NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			16	2910	-								A6NP25|C9JP52	Splice_Site	INS	ENST00000253692.7	37		CCDS33714.1																																																																																				0.312	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	Intron	10	421						10	421	---	---	---	---	A	17300086	-	A	17300085	8	5	74	1	0	1	1	0	0	0	1	0	15675	1536	53	0	1241	0	TBC1D5	3	17300085	Splice_Site	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	764717	17300085	180722345	34	9219											
SCN5A	6331	broad.mit.edu	37	chr3	38622673	38622673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggcggcaagggctgCgggcttctgaggccgctgcc	18	14	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:38622673C>T	ENST00000333535.4	-	17	3126	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	993					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAAGGGCTGCGGGCTTCTGA	0.692																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2977-2979)Gca>Aca		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						12	13	13					3																	38622673		1922	4105	6027	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622673C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2977G>A	3.37:g.38622673C>T	ENSP00000328968:p.Ala993Thr					SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T	p.A993T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3170	-	Medulloblastoma(35;0.163)		993					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2977G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	2.132	-0.398935	0.04865	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.38	2.53	0.30540	Sodium ion transport-associated (1);	1.066670	0.07154	N	0.849551	T	0.76104	0.3941	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.002;0.003;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.003;0.003;0.003;0.002	T	0.54925	-0.8220	10	0.13853	T	0.58	.	9.7536	0.40490	0.0:0.7672:0.0:0.2328	.	993;993;993;993;993;993;993	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	T	993	ENSP00000398962:A993T;ENSP00000398266:A993T;ENSP00000410257:A993T;ENSP00000388797:A993T;ENSP00000397915:A993T;ENSP00000416634:A993T;ENSP00000328968:A993T;ENSP00000399524:A993T;ENSP00000403355:A993T;ENSP00000413996:A993T	ENSP00000328968:A993T	A	-	1	0	SCN5A	38597677	0.014000	0.17966	0.000000	0.03702	0.045000	0.14185	0.343000	0.19944	0.221000	0.20879	0.561000	0.74099	GCA		0.692	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		15	100	0	0	0	1	0	15	100					T	38622673	C	T	38622673	3	4	74	1	0	0	0	0	1	0	0	0	13972	768	27	1	3121	1	SCN5A	3	38622673	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	21322588	38622673	159399757	35	9220											
PTPN23	25930	broad.mit.edu	37	chr3	47453787	47453787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagctctggtgtgggccGcacgggagcctttgcactgc	15	13	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:47453787G>A	ENST00000265562.4	+	23	4270	c.4193G>A	c.(4192-4194)cGc>cAc	p.R1398H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1272H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1398	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTGTGGGCCGCACGGGAGCC	0.637																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4192-4194)cGc>cAc		protein tyrosine phosphatase, non-receptor type 23							68	73	71					3																	47453787		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47453787G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4193G>A	3.37:g.47453787G>A	ENSP00000265562:p.Arg1398His					PTPN23_ENST00000431726.1_Missense_Mutation_p.R1272H	p.R1398H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	4270	+			1398			Tyrosine-protein phosphatase.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4193G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277639	0.80692	.	.	ENSG00000076201	ENST00000265562	T	0.55052	0.54	3.99	3.99	0.46301	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.141041	0.45361	D	0.000364	T	0.80592	0.4652	H	0.95950	3.745	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.87465	0.2410	10	0.87932	D	0	-20.1585	15.0391	0.71774	0.0:0.0:1.0:0.0	.	1398	Q9H3S7	PTN23_HUMAN	H	1398	ENSP00000265562:R1398H	ENSP00000265562:R1398H	R	+	2	0	PTPN23	47428791	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.055000	0.93873	2.045000	0.60652	0.563000	0.77884	CGC		0.637	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		6	727	0	0	0	1	0	6	727					A	47453787	G	A	47453787	3	1	74	1	0	0	0	0	1	0	0	0	12838	1087	38	1	4283	1	PTPN23	3	47453787	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8831114	47453787	150568643	36	9221											
CDC25A	993	broad.mit.edu	37	chr3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-													ggtattcattacccaggcgaTctctctctctcacataccgg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	383						7	383	---	---	---	---	-	48200923	TC	-	48200922	7	5	74	1	0	1	0	1	0	0	0	0	3071	1435	50	0	236	0	CDC25A	3	48200922	Frame_Shift_Del	DEL	TC	TCGA-HZ-A77P-01A-11D-A33T-08	747135	48200922	149821508	37	9222											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	515						7	515	---	---	---	---	-	49094316	TGC	-	49094314	7	5	74	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-HZ-A77P-01A-11D-A33T-08	893392	49094314	148928116	38	9223											
NFKBIZ	64332	broad.mit.edu	37	chr3	101574269	101574269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggagcagtgggaagtaatCagtttgtggatcttgaggca	16	4	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:101574269C>A	ENST00000326172.5	+	8	1736	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	541	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGGAAGTAATCAGTTTGTGGA	0.413																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1621-1623)Cag>Aag		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							136	137	137					3																	101574269		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101574269C>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1621C>A	3.37:g.101574269C>A	ENSP00000325663:p.Gln541Lys					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K	p.Q541K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			8	1736	+			541			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1621C>A	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294456	0.81025	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.43919	0.1269	N	0.16708	0.43	0.54753	D	0.99998	P;D	0.53885	0.907;0.963	P;P	0.60682	0.568;0.878	T	0.36065	-0.9763	10	0.42905	T	0.14	-20.6546	19.7324	0.96188	0.0:1.0:0.0:0.0	.	419;541	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	441;441;419;541	ENSP00000419800:Q441K;ENSP00000377618:Q441K;ENSP00000325593:Q419K;ENSP00000325663:Q541K	ENSP00000325593:Q419K	Q	+	1	0	NFKBIZ	103056959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.654000	0.61469	2.663000	0.90544	0.655000	0.94253	CAG		0.413	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		59	458	1	0	1.53122e-18	1	1.71702e-18	59	458					A	101574269	C	A	101574269	3	1	74	1	0	0	0	0	1	0	0	0	10425	827	29	3	1651	3	NFKBIZ	3	101574269	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	52479955	101574269	96448161	39	9224											
MYH15	22989	broad.mit.edu	37	chr3	108110745	108110745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggcaatggtgtcttgCttcttcttcagttcttctga	10	8	6	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:108110745C>A	ENST00000273353.3	-	38	5408	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1784						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGTGTCTTGCTTCTTCTTCA	0.428																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5350-5352)aaG>aaT		myosin, heavy chain 15							219	204	209					3																	108110745		1884	4121	6005	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108110745C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5352G>T	3.37:g.108110745C>A	ENSP00000273353:p.Lys1784Asn						p.K1784N	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			38	5408	-			1784						Missense_Mutation	SNP	ENST00000273353.3	37	c.5352G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101562	0.56183	.	.	ENSG00000144821	ENST00000273353	T	0.77489	-1.1	5.62	0.606	0.17559	Myosin tail (1);	.	.	.	.	T	0.65709	0.2717	N	0.19112	0.55	0.34830	D	0.739586	B	0.29671	0.254	B	0.39465	0.3	T	0.65212	-0.6223	9	0.87932	D	0	.	5.9578	0.19283	0.121:0.6092:0.0:0.2698	.	1784	Q9Y2K3	MYH15_HUMAN	N	1784	ENSP00000273353:K1784N	ENSP00000273353:K1784N	K	-	3	2	MYH15	109593435	1.000000	0.71417	0.823000	0.32752	0.870000	0.49936	1.227000	0.32576	0.040000	0.15660	0.655000	0.94253	AAG		0.428	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		88	753	1	0	8.55712e-49	1	9.75875e-49	88	753					A	108110745	C	A	108110745	3	1	74	1	0	0	0	0	1	0	0	0	10075	796	28	3	508	3	MYH15	3	108110745	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6536476	108110745	89911685	40	9225											
SPSB4	92369	broad.mit.edu	37	chr3	140866041	140866041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgctcggccctgggccGccagcgcctgcaggacatca	12	18	1	0	rs79933965		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:140866041G>A	ENST00000310546.2	+	3	1496	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCTGGGCCGCCAGCGCCTG	0.617																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(751-753)cGc>cAc		splA/ryanodine receptor domain and SOCS box containing 4		G	HIS/ARG	0,4406		0,0,2203	51	51	51		752	5.7	1	3	dbSNP_131	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPSB4	NM_080862.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	251/274	140866041	1,13005	2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140866041G>A		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.752G>A	3.37:g.140866041G>A	ENSP00000311609:p.Arg251His					SPSB4_ENST00000507895.1_3'UTR	p.R251H	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			3	1496	+			251			SOCS box.			Missense_Mutation	SNP	ENST00000310546.2	37	c.752G>A	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892680	0.91889	0.0	1.16E-4	ENSG00000175093	ENST00000310546	T	0.47528	0.84	5.67	5.67	0.87782	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72353	2.195	0.47621	D	0.999479	B	0.31655	0.334	B	0.28011	0.085	T	0.45789	-0.9237	10	0.34782	T	0.22	-25.8085	17.2564	0.87057	0.0:0.0:1.0:0.0	.	251	Q96A44	SPSB4_HUMAN	H	251	ENSP00000311609:R251H	ENSP00000311609:R251H	R	+	2	0	SPSB4	142348731	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.577000	0.82486	2.676000	0.91093	0.561000	0.74099	CGC		0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		26	257	0	0	0	1	0	26	257					A	140866041	G	A	140866041	3	1	74	1	0	0	0	0	1	0	0	0	15167	1087	38	1	758	1	SPSB4	3	140866041	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	32755296	140866041	57156389	41	9226											
SEC62	7095	broad.mit.edu	37	chr3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A													agacaaaaaaagaaaaagagINSaaaaaaaaagatggtgaaaa							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(421-423)aaafs	p.K141fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K141fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	141					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(418-423)gaaaaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700663_169700664insA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.429dupA	3.37:g.169700672_169700672dupA	ENSP00000337688:p.Lys141fs					SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	p.EK140fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	478_479	+			140					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.420_421insA	CCDS3210.1																																																																																				0.277	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			7	209						7	209	---	---	---	---	A	169700664	-	A	169700663	7	5	74	1	0	1	1	0	0	0	0	0	14054	933	33	0	434	0	SEC62	3	169700663	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	28834622	169700663	28321767	42	9227											
LETM1	3954	broad.mit.edu	37	chr4	1838239	1838239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaaactccatgaacgGcaccaccacgaacacaagga	8	14	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:1838239G>A	ENST00000302787.2	-	4	951	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	219	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCATGAACGGCACCACCACG	0.557																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(655-657)Ccg>Tcg		leucine zipper-EF-hand containing transmembrane protein 1							168	136	147					4																	1838239		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1838239G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.655C>T	4.37:g.1838239G>A	ENSP00000305653:p.Pro219Ser						p.P219S	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		4	951	-			219			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.655C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839614	0.91117	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.79033	-1.23	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.948	D	0.93036	0.6453	10	0.87932	D	0	-35.3303	16.3116	0.82873	0.0:0.0:1.0:0.0	.	219;219	O95202-3;O95202	.;LETM1_HUMAN	S	219;179	ENSP00000305653:P219S	ENSP00000305653:P219S	P	-	1	0	LETM1	1808037	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG		0.557	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			8	543	0	0	0	1	0	8	543					A	1838239	G	A	1838239	3	1	74	1	0	0	0	0	1	0	0	0	8765	1203	42	2	1608	2	LETM1	4	1838239	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		1838239	189316037	43	9228											
WHSC2	7469	broad.mit.edu	37	chr4	1985154	1985154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttgtgctaccctggccGtccgccttgggcaggtcctc	13	14	0	0	rs143453281		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:1985154G>A	ENST00000411638.2	-	11	1494	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	NELFA_ENST00000382882.3_Silent_p.D504D|NELFA_ENST00000542778.1_Silent_p.D358D|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	493					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TACCCTGGCCGTCCGCCTTGG	0.602																																						ENST00000382882.3																			0											c.(1510-1512)gaC>gaT		negative elongation factor complex member A		A		0,4406		0,0,2203	202	180	188		1512	-4.8	0.2	4	dbSNP_134	188	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WHSC2	NM_005663.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		504/540	1985154	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7469							g.chr4:1985154G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1479C>T	4.37:g.1985154G>A						NELFA_ENST00000411638.1_Silent_p.D493D|NELFA_ENST00000542778.1_Silent_p.D358D	p.D504D	NM_005663.4	NP_005654.3					11	2629	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1512C>T																																																																																					0.602	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		6	946	0	0	0	1	0	6	946					A	1985154	G	A	1985154	2	1	74	1	0	0	0	0	0	0	0	1	17418	1136	40	1		1	WHSC2	4	1985154	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	146915	1985154	189169122	44	9229											
BMP2K	55589	broad.mit.edu	37	chr4	79792142	79792142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcaacagcaGcagcagcagcagcagcagca	11	14	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:79792142G>A	ENST00000335016.5	+	11	1603	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q	BMP2K_ENST00000502871.1_Silent_p.Q479Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	479	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcaacagcagcagcagcagc	0.507																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1435-1437)caG>caA		BMP2 inducible kinase																																				SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792142G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1437G>A	4.37:g.79792142G>A						BMP2K_ENST00000502871.1_Silent_p.Q479Q	p.Q479Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1603	+			479	Missing (in Ref. 2; CAB70863).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1437G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.592	-0.528765	0.04112	.	.	ENSG00000138756	ENST00000502613	.	.	.	.	.	.	.	.	.	.	.	T	0.57301	0.2044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51276	-0.8726	2	.	.	.	.	.	.	.	.	.	.	.	T	172	.	.	A	+	1	0	BMP2K	80011166	0.996000	0.38824	0.204000	0.23530	0.070000	0.16714	0.268000	0.18571	0.161000	0.19458	0.163000	0.16589	GCA		0.507	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	256	0	0	0	1	0	5	256					A	79792142	G	A	79792142	2	1	74	1	0	0	0	0	0	0	0	1	1462	962	34	2		2	BMP2K	4	79792142	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	77806988	79792142	111362134	45	9230											
C4orf22	255119	broad.mit.edu	37	chr4	81791253	81791254	+	Frame_Shift_Ins	INS	-	-	A													tttgaagtctactttactggINSaaaaaaaagacttcttccaa					rs146690045		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:81791253_81791254insA	ENST00000358105.3	+	4	489_490	c.440_441insA	c.(439-444)ggaaaafs	p.GK147fs	C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.GK164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371																																						ENST00000358105.3																			1	Substitution - Missense(1)	p.G147E(1)	skin(1)	NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)gaafs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791253_81791254insA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.448dupA	4.37:g.81791261_81791261dupA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.E164fs	p.E147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	489_490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Ins	INS	ENST00000358105.3	37	c.440_441insA	CCDS3587.1																																																																																				0.371	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		8	550						8	550	---	---	---	---	A	81791254	-	A	81791253	7	5	74	1	0	1	1	0	0	0	0	0	2262	1174	41	0	454	0	C4orf22	4	81791253	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	1999111	81791253	109363023	46	9231											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	Intron	DEL	GCT	GCT	-													ccaagcgcatggaaagacacGctgctgctgctgctgtccaa					rs370831945		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		7	274						7	274	---	---	---	---	-	159091489	GCT	-	159091487	6	5	74	0	1	1	0	1	0	0	0	0	5550	1087	38	0		0	FAM198B	4	159091487	Intron	DEL	GCT	TCGA-HZ-A77P-01A-11D-A33T-08	77300234	159091487	32062789	47	9232											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		11	162						11	162	---	---	---	---	A	190878556	-	A	190878555	7	5	74	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	31787068	190878555	275721	48	9233											
AHRR	57491	broad.mit.edu	37	chr5	434517	434517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcccagccaggtgtgGctgggggccagtgacaggag	19	9	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:434517G>T	ENST00000505113.1	+	11	1718	c.1674G>T	c.(1672-1674)tgG>tgT	p.W558C	AHRR_ENST00000506456.1_Missense_Mutation_p.W414C|AHRR_ENST00000316418.5_Missense_Mutation_p.W576C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	558	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCAGGTGTGGCTGGGGGCCA	0.607																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1726-1728)tgG>tgT		aryl-hydrocarbon receptor repressor							51	60	57					5																	434517		2131	4244	6375	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434517G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1674G>T	5.37:g.434517G>T	ENSP00000424601:p.Trp558Cys					AHRR_ENST00000505113.1_Missense_Mutation_p.W558C|AHRR_ENST00000506456.1_Missense_Mutation_p.W414C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C	p.W576C	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1772	+			558			Needed for transcriptional repression (By similarity).		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1728G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580075	0.28180	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.73152	0.77;0.82;0.59;0.58;-0.72	4.74	2.94	0.34122	.	0.201899	0.46758	N	0.000278	T	0.74512	0.3726	L	0.36672	1.1	0.54753	D	0.999981	B;D;D	0.89917	0.023;1.0;1.0	B;D;D	0.91635	0.024;0.998;0.999	T	0.72903	-0.4151	10	0.56958	D	0.05	.	9.5858	0.39514	0.0:0.1544:0.6854:0.1602	.	414;558;576	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	C	558;576;404;414;213	ENSP00000424601:W558C;ENSP00000323816:W576C;ENSP00000424880:W404C;ENSP00000426932:W414C;ENSP00000426076:W213C	ENSP00000323816:W576C	W	+	3	0	AHRR	487517	1.000000	0.71417	0.841000	0.33234	0.040000	0.13550	3.498000	0.53302	0.523000	0.28482	0.555000	0.69702	TGG		0.607	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		18	191	1	0	1.96292e-10	1	2.12122e-10	18	191					T	434517	G	T	434517	3	4	74	1	0	0	0	0	1	0	0	0	417	1212	42	3	1774	3	AHRR	5	434517	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		434517	180480743	49	9234											
C9	735	broad.mit.edu	37	chr5	39288944	39288944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttggcatgtgtggcatTttcttacactaaattcattg	7	7	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:39288944T>C	ENST00000263408.4	-	10	1621	c.1526A>G	c.(1525-1527)aAa>aGa	p.K509R		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	509	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGTGGCATTTTCTTACACT	0.363																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1525-1527)aAa>aGa		complement component 9							158	149	152					5																	39288944		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39288944T>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1526A>G	5.37:g.39288944T>C	ENSP00000263408:p.Lys509Arg						p.K509R	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		10	1621	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	509			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1526A>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037856	0.54896	.	.	ENSG00000113600	ENST00000263408	D	0.84442	-1.85	5.57	4.37	0.52481	Membrane attack complex component/perforin (MACPF) domain (1);	0.101963	0.64402	N	0.000004	T	0.81288	0.4791	M	0.67397	2.05	0.36730	D	0.881672	P	0.35050	0.482	B	0.32393	0.145	T	0.79279	-0.1869	10	0.23302	T	0.38	-26.4813	11.4893	0.50371	0.0:0.0719:0.0:0.9281	.	509	P02748	CO9_HUMAN	R	509	ENSP00000263408:K509R	ENSP00000263408:K509R	K	-	2	0	C9	39324701	1.000000	0.71417	0.200000	0.23457	0.250000	0.25880	3.838000	0.55828	0.904000	0.36572	0.533000	0.62120	AAA		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			4	462	0	0	0	1	0	4	462					C	39288944	T	C	39288944	3	2	74	1	0	0	0	0	1	0	0	0	2450	1841	64	4	161	4	C9	5	39288944	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	38854427	39288944	141626316	50	9235											
SNX2	6643	broad.mit.edu	37	chr5	122163297	122163297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgaaggattttaaaaccGttatcatcaagtacttagaa	8	5	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:122163297G>A	ENST00000379516.2	+	14	1573	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V372I	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	489					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.V489I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAAAACCGTTATCATCAA	0.299																																						ENST00000379516.2																			1	Substitution - Missense(1)	p.V489I(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1465-1467)Gtt>Att		sorting nexin 2							83	87	86					5																	122163297		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122163297G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1465G>A	5.37:g.122163297G>A	ENSP00000368831:p.Val489Ile					SNX2_ENST00000514949.1_Missense_Mutation_p.V372I|SNX2_ENST00000510372.1_3'UTR	p.V489I	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	14	1573	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	489					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.1465G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539584	0.27563	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.57907	0.37;0.37	5.72	4.85	0.62838	Vps5 C-terminal (1);	0.118494	0.64402	D	0.000018	T	0.32823	0.0842	N	0.11255	0.115	0.41069	D	0.985434	B	0.02656	0.0	B	0.06405	0.002	T	0.12268	-1.0554	10	0.14252	T	0.57	-0.4711	15.1561	0.72743	0.068:0.0:0.932:0.0	.	489	O60749	SNX2_HUMAN	I	489;372	ENSP00000368831:V489I;ENSP00000421663:V372I	ENSP00000368831:V489I	V	+	1	0	SNX2	122191196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.406000	0.59748	1.551000	0.49450	0.650000	0.86243	GTT		0.299	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		23	229	0	0	0	1	0	23	229					A	122163297	G	A	122163297	3	1	74	1	0	0	0	0	1	0	0	0	14941	1145	40	1	1519	1	SNX2	5	122163297	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	82874353	122163297	58751963	51	9236											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037148	129037148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcagagcagacaagtgGcctgtacccaacaactgagc	11	11	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:129037148G>A	ENST00000274487.4	+	20	3149	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1002	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGACAAGTGGCCTGTACCCA	0.532																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3004-3006)Gcc>Acc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							126	113	118					5																	129037148		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037148G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3004G>A	5.37:g.129037148G>A	ENSP00000274487:p.Ala1002Thr					CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.A1002T	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3149	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1002			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3004G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487084	0.26686	.	.	ENSG00000145808	ENST00000274487	T	0.50813	0.73	4.0	3.13	0.36017	.	0.088465	0.44902	D	0.000406	T	0.15478	0.0373	N	0.00869	-1.13	0.38121	D	0.93784	B	0.14012	0.009	B	0.15052	0.012	T	0.09037	-1.0693	9	.	.	.	.	9.1005	0.36664	0.1723:0.0:0.8277:0.0	.	1002	Q8TE59	ATS19_HUMAN	T	1002	ENSP00000274487:A1002T	.	A	+	1	0	ADAMTS19	129065047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.694000	0.54742	1.273000	0.44346	0.650000	0.86243	GCC		0.532	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		47	398	0	0	0	1	0	47	398					A	129037148	G	A	129037148	3	1	74	1	0	0	0	0	1	0	0	0	264	1203	42	2	3082	2	ADAMTS19	5	129037148	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	6873851	129037148	51878112	52	9237											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725483	140725483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	17	14	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140725483C>T	ENST00000253812.6	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697																																						ENST00000253812.6																			0				breast(1)	1						c.(1882-1884)aCg>aTg									8	12	11					5																	140725483		1985	3985	5970	SO:0001583	missense	0							g.chr5:140725483C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1883C>T	5.37:g.140725483C>T	ENSP00000253812:p.Thr628Met					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.T628M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1883	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1883C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.230592	0.79688	.	.	ENSG00000254245	ENST00000253812	T	0.56941	0.43	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004248	T	0.80586	0.4651	H	0.95402	3.665	0.40444	D	0.980074	D;D	0.89917	1.0;0.998	D;D	0.64776	0.928;0.929	D	0.86843	0.2018	10	0.72032	D	0.01	.	18.9241	0.92537	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	628	ENSP00000253812:T628M	ENSP00000253812:T628M	T	+	2	0	PCDHGA3	140705667	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.478000	0.81082	2.636000	0.89361	0.558000	0.71614	ACG		0.697	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		46	385	0	0	0	1	0	46	385					T	140725483	C	T	140725483	3	4	74	1	0	0	0	0	1	0	0	0	11597	536	19	1	1885	1	PCDHGA3	5	140725483	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	11688335	140725483	40189777	53	9238											
PCDHGB1	56104	broad.mit.edu	37	chr5	140729951	140729951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaggagctagccaacGgctcacgggtggggaaactt	14	10	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140729951G>A	ENST00000523390.1	+	1	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCCAACGGCTCACGGGT	0.527											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(124-126)Ggc>Agc									51	51	51					5																	140729951		1888	4126	6014	SO:0001583	missense	0							g.chr5:140729951G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.124G>A	5.37:g.140729951G>A	ENSP00000429273:p.Gly42Ser		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.G42S	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	124	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.124G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.796737	0.90453	.	.	ENSG00000254221	ENST00000523390	T	0.51574	0.7	5.52	5.52	0.82312	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78923	0.4360	H	0.95260	3.645	0.39854	D	0.97328	D;D	0.76494	0.998;0.999	D;D	0.71870	0.947;0.975	D	0.85452	0.1161	9	0.72032	D	0.01	.	19.4222	0.94726	0.0:0.0:1.0:0.0	.	42;42	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	42	ENSP00000429273:G42S	ENSP00000429273:G42S	G	+	1	0	PCDHGB1	140710135	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	6.223000	0.72257	2.756000	0.94617	0.563000	0.77884	GGC		0.527	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		13	144	0	0	0	1	0	13	144					A	140729951	G	A	140729951	3	1	74	1	0	0	0	0	1	0	0	0	11604	1116	39	1	126	1	PCDHGB1	5	140729951	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	4468	140729951	40185309	54	9239											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856777	140856777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagtacccgaggatgCccctctggggactgtcatcg	12	15	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140856777C>T	ENST00000308177.3	+	1	1198	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGGATGCCCCTCTGGGG	0.582																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1093-1095)gCc>gTc									48	44	45					5																	140856777		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856777C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1094C>T	5.37:g.140856777C>T	ENSP00000312070:p.Ala365Val					PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.A365V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1198	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1094C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706593	0.89018	.	.	ENSG00000240184	ENST00000308177	T	0.55588	0.51	5.49	5.49	0.81192	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69450	0.3112	L	0.54965	1.715	0.39337	D	0.965512	D;D	0.89917	0.999;1.0	D;D	0.75020	0.985;0.984	T	0.68375	-0.5425	9	0.48119	T	0.1	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	365;365	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	365	ENSP00000312070:A365V	ENSP00000312070:A365V	A	+	2	0	PCDHGC3	140836961	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	5.915000	0.69973	2.865000	0.98341	0.655000	0.94253	GCC		0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		5	259	0	0	0	1	0	5	259					T	140856777	C	T	140856777	3	4	74	1	0	0	0	0	1	0	0	0	11611	739	26	2	1096	2	PCDHGC3	5	140856777	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	126826	140856777	40058483	55	9240											
ARAP3	64411	broad.mit.edu	37	chr5	141044614	141044614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggctgcgttccatgccGtgaagtccagccggccctct	11	15	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:141044614G>A	ENST00000239440.4	-	19	2740	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	892					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTCCATGCCGTGAAGTCCAG	0.657											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2674-2676)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							26	29	28					5																	141044614		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141044614G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2675C>T	5.37:g.141044614G>A	ENSP00000239440:p.Thr892Met		OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1661	ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M	p.T892M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			19	2740	-			892					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2675C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687765	0.29962	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.29655	1.56;1.56;1.56	4.83	4.83	0.62350	Pleckstrin homology domain (1);	0.555087	0.17874	N	0.159088	T	0.19127	0.0459	N	0.24115	0.695	0.24003	N	0.996205	B;B;B	0.27498	0.155;0.18;0.113	B;B;B	0.23574	0.047;0.01;0.005	T	0.12142	-1.0559	10	0.16896	T	0.51	.	11.2395	0.48962	0.0843:0.0:0.9157:0.0	.	554;794;892	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	M	794;892;554	ENSP00000421826:T794M;ENSP00000239440:T892M;ENSP00000421468:T554M	ENSP00000239440:T892M	T	-	2	0	ARAP3	141024798	0.979000	0.34478	0.993000	0.49108	0.395000	0.30598	4.406000	0.59748	2.518000	0.84900	0.650000	0.86243	ACG		0.657	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	188	0	0	0	1	0	5	188					A	141044614	G	A	141044614	3	1	74	1	0	0	0	0	1	0	0	0	840	1145	40	1	2019	1	ARAP3	5	141044614	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	187837	141044614	39870646	56	9241											
ARAP3	64411	broad.mit.edu	37	chr5	141051750	141051750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagtccgcacactgccGgttggcccgattagaccaga	10	16	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:141051750G>A	ENST00000239440.4	-	10	1569	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	ARAP3_ENST00000508305.1_Missense_Mutation_p.R424W|ARAP3_ENST00000513878.1_Missense_Mutation_p.R164W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	502	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R502W(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACACTGCCGGTTGGCCCGA	0.617																																						ENST00000239440.4																			1	Substitution - Missense(1)	p.R502W(1)	lung(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1504-1506)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							130	129	129					5																	141051750		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051750G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1504C>T	5.37:g.141051750G>A	ENSP00000239440:p.Arg502Trp					ARAP3_ENST00000508305.1_Missense_Mutation_p.R424W|ARAP3_ENST00000513878.1_Missense_Mutation_p.R164W	p.R502W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1569	-			502			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1504C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893415	0.52121	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.47177	0.85;0.85;0.85	3.51	3.51	0.40186	.	0.149828	0.41396	U	0.000892	T	0.68174	0.2972	M	0.87328	2.875	0.33547	D	0.595635	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.70016	0.946;0.967;0.817	T	0.79135	-0.1928	10	0.87932	D	0	.	9.5352	0.39218	0.0:0.0:0.7891:0.2109	.	164;424;502	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	424;502;164	ENSP00000421826:R424W;ENSP00000239440:R502W;ENSP00000421468:R164W	ENSP00000239440:R502W	R	-	1	2	ARAP3	141031934	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.739000	0.38217	1.789000	0.52484	0.563000	0.77884	CGG		0.617	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	1192	0	0	0	1	0	8	1192					A	141051750	G	A	141051750	3	1	74	1	0	0	0	0	1	0	0	0	840	1115	39	1	3226	1	ARAP3	5	141051750	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	7136	141051750	39863510	57	9242											
SLC26A2	1836	broad.mit.edu	37	chr5	149360264	149360264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcccactgggtttatgCcacccaaagtaccagaatgg	8	11	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:149360264C>T	ENST00000286298.4	+	3	1376	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	370					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.P370S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGTTTATGCCACCCAAAGT	0.383																																						ENST00000286298.4																			1	Substitution - Missense(1)	p.P370S(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1108-1110)Cca>Tca		solute carrier family 26 (anion exchanger), member 2							112	102	106					5																	149360264		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360264C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1108C>T	5.37:g.149360264C>T	ENSP00000286298:p.Pro370Ser						p.P370S	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1376	+			370					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1108C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733035	0.69189	.	.	ENSG00000155850	ENST00000286298	D	0.93076	-3.16	5.6	4.73	0.59995	Sulphate transporter (1);	0.162045	0.56097	D	0.000028	D	0.93501	0.7926	L	0.39085	1.19	0.51767	D	0.999933	P	0.52692	0.955	P	0.58620	0.842	D	0.93313	0.6686	10	0.48119	T	0.1	.	14.464	0.67470	0.0:0.9294:0.0:0.0706	.	370	P50443	S26A2_HUMAN	S	370	ENSP00000286298:P370S	ENSP00000286298:P370S	P	+	1	0	SLC26A2	149340457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.776000	0.62354	1.363000	0.46019	0.650000	0.86243	CCA		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		4	269	0	0	0	1	0	4	269					T	149360264	C	T	149360264	3	4	74	1	0	0	0	0	1	0	0	0	14567	739	26	2	1114	2	SLC26A2	5	149360264	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	8308514	149360264	31554996	58	9243											
RNF145	153830	broad.mit.edu	37	chr5	158621763	158621763	+	Frame_Shift_Del	DEL	A	A	-													catagaggagcagagcagtcAaaaaatatagataaagctga							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:158621763delA	ENST00000424310.2	-	3	613	c.254delT	c.(253-255)ttgfs	p.L85fs	RNF145_ENST00000519865.1_Frame_Shift_Del_p.L85fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.L102fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.L115fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.L99fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.L113fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	85						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGCAGTCAAAAAATATAG	0.343																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(253-255)tgfs		ring finger protein 145							102	116	111					5																	158621763		2203	4300	6503	SO:0001589	frameshift_variant	153830					integral to membrane	zinc ion binding	g.chr5:158621763delA	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.254delT	5.37:g.158621763delA	ENSP00000409064:p.Leu85fs					RNF145_ENST00000520638.1_Frame_Shift_Del_p.L99fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.L113fs|RNF145_ENST00000519865.1_Frame_Shift_Del_p.L85fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.L102fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.L115fs	p.L85fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	613	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	85					B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	c.254delT	CCDS56390.1																																																																																				0.343	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		7	881						7	881	---	---	---	---	-	158621763	A	-	158621763	7	5	74	1	0	1	0	1	0	0	0	0	13497	131	5	0	1773	0	RNF145	5	158621763	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	9261499	158621763	22293497	59	9244											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		7	473						7	473	---	---	---	---	A	162917426	-	A	162917425	7	5	74	1	0	1	1	0	0	0	0	0	7272	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	4295662	162917425	17997835	60	9245											
DSP	1832	broad.mit.edu	37	chr6	7585776	7585776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatagatggccgcgccGcacagaggctgcaagacacc	13	13	1	3	rs376751288		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:7585776G>A	ENST00000379802.3	+	24	8622	c.8281G>A	c.(8281-8283)Gca>Aca	p.A2761T	DSP_ENST00000418664.2_Missense_Mutation_p.A2162T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2761	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGCCGCGCCGCACAGAGGCT	0.522																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8281-8283)Gca>Aca		desmoplakin		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	63	72	69		6484,8281	5.5	1	6		69	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2162/2273,2761/2872	7585776	1,13005	2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585776G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8281G>A	6.37:g.7585776G>A	ENSP00000369129:p.Ala2761Thr					DSP_ENST00000418664.2_Missense_Mutation_p.A2162T	p.A2761T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8622	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2761			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8281G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799195	0.70567	2.27E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.78003	-1.14;-1.14	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000007	D	0.85890	0.5802	M	0.86502	2.82	0.33280	D	0.562155	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	D	0.84014	0.0350	10	0.22706	T	0.39	.	15.9693	0.80001	0.0:0.0:0.8647:0.1353	.	2209;2761	Q4LE79;P15924	.;DESP_HUMAN	T	2761;2162	ENSP00000369129:A2761T;ENSP00000396591:A2162T	ENSP00000369129:A2761T	A	+	1	0	DSP	7530775	1.000000	0.71417	0.991000	0.47740	0.747000	0.42532	5.643000	0.67895	2.736000	0.93811	0.655000	0.94253	GCA		0.522	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	598	0	0	0	1	0	5	598					A	7585776	G	A	7585776	3	1	74	1	0	0	0	0	1	0	0	0	4797	1087	38	1	8375	1	DSP	6	7585776	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		7585776	163529291	61	9246											
HIVEP1	3096	broad.mit.edu	37	chr6	12125936	12125936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctatactgattggacaGtaagcgccagtaatccaaat	8	10	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:12125936G>A	ENST00000379388.2	+	4	6240	c.5908G>A	c.(5908-5910)Gta>Ata	p.V1970I	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1970					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGATTGGACAGTAAGCGCCAG	0.418																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(5908-5910)Gta>Ata		human immunodeficiency virus type I enhancer binding protein 1							102	99	100					6																	12125936		1874	4111	5985	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125936G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5908G>A	6.37:g.12125936G>A	ENSP00000368698:p.Val1970Ile						p.V1970I	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	6240	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1970					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5908G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.674084	0.14841	.	.	ENSG00000095951	ENST00000379388	T	0.09538	2.97	6.07	5.03	0.67393	.	0.000000	0.33005	N	0.005392	T	0.02418	0.0074	N	0.13003	0.285	0.80722	D	1	B	0.25719	0.132	B	0.24006	0.05	T	0.46857	-0.9161	9	.	.	.	-23.7413	10.2367	0.43288	0.1813:0.0:0.8187:0.0	.	1970	P15822	ZEP1_HUMAN	I	1970	ENSP00000368698:V1970I	.	V	+	1	0	HIVEP1	12233922	0.825000	0.29262	0.983000	0.44433	0.989000	0.77384	1.224000	0.32539	2.884000	0.98904	0.655000	0.94253	GTA		0.418	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		5	456	0	0	0	1	0	5	456					A	12125936	G	A	12125936	3	1	74	1	0	0	0	0	1	0	0	0	7216	1029	36	2	5918	2	HIVEP1	6	12125936	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	4540160	12125936	158989131	62	9247											
BTN3A1	11119	broad.mit.edu	37	chr6	26406286	26406286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcaggtggtgaacgtgTatgcagatggaaaggaagtg	17	3	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26406286T>C	ENST00000289361.6	+	3	603	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	79	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAACGTGTATGCAGATGG	0.562																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(235-237)Tat>Cat		butyrophilin, subfamily 3, member A1							54	84	74					6																	26406286		2200	4295	6495	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26406286T>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.235T>C	6.37:g.26406286T>C	ENSP00000289361:p.Tyr79His					BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H	p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			3	603	+			79			Ig-like V-type 1.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.235T>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371832	0.42003	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;4.1;-0.12	2.21	-3.57	0.04612	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56217	0.1970	M	0.67625	2.065	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.50725	-0.8794	9	0.54805	T	0.06	.	4.3804	0.11291	0.0:0.3702:0.1798:0.4499	.	79;79;79;79	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	79	ENSP00000420010:Y79H;ENSP00000289361:Y79H;ENSP00000394937:Y79H;ENSP00000396684:Y79H;ENSP00000427013:Y79H;ENSP00000406667:Y79H	ENSP00000289361:Y79H	Y	+	1	0	BTN3A1	26514265	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.501000	0.06398	-0.918000	0.03808	0.454000	0.30748	TAT		0.562	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			63	574	0	0	0	1	0	63	574					C	26406286	T	C	26406286	3	2	74	1	0	0	0	0	1	0	0	0	1566	1638	57	4	241	4	BTN3A1	6	26406286	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	14280350	26406286	144708781	63	9248											
GPX5	2880	broad.mit.edu	37	chr6	28501886	28501886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggtcccaccgggctaCggtcagctcagtcaagacag	13	14	3	1	rs371361550		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28501886C>T	ENST00000412168.2	+	5	697	c.608C>T	c.(607-609)aCg>aTg	p.T203M	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	203					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CACCGGGCTACGGTCAGCTCA	0.522																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(607-609)aCg>aTg		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)	C	MET/THR,	0,4406		0,0,2203	84	82	83		608,	2.7	0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	GPX5	NM_001509.2,NM_003996.3	81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	203/222,	28501886	1,13005	2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28501886C>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.608C>T	6.37:g.28501886C>T	ENSP00000392398:p.Thr203Met					GPX5_ENST00000442674.2_3'UTR	p.T203M	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			5	697	+			203					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.608C>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666106	0.14710	0.0	1.16E-4	ENSG00000224586	ENST00000412168	T	0.04194	3.68	4.52	2.7	0.31948	Thioredoxin-like fold (2);	0.659654	0.15691	N	0.249449	T	0.02727	0.0082	M	0.63843	1.955	0.09310	N	1	D	0.59767	0.986	P	0.44772	0.46	T	0.40117	-0.9580	10	0.48119	T	0.1	-14.0316	7.4322	0.27134	0.1803:0.73:0.0:0.0897	.	203	O75715	GPX5_HUMAN	M	203	ENSP00000392398:T203M	ENSP00000392398:T203M	T	+	2	0	GPX5	28609865	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.329000	0.33770	0.793000	0.33875	-0.119000	0.15052	ACG		0.522	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			50	401	0	0	0	1	0	50	401					T	28501886	C	T	28501886	3	4	74	1	0	0	0	0	1	0	0	0	6773	536	19	1	626	1	GPX5	6	28501886	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2095600	28501886	142613181	64	9249											
SCAND3	114821	broad.mit.edu	37	chr6	28542562	28542562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggctacaagttatttgCcgaccacagccctcagtccc	7	15	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28542562C>T	ENST00000452236.2	-	3	2537	c.1920G>A	c.(1918-1920)cgG>cgA	p.R640R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAGTTATTTGCCGACCACAGC	0.403																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1918-1920)cgG>cgA		SCAN domain containing 3							109	104	105					6																	28542562		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542562C>T																												ENST00000452236.2:c.1920G>A	6.37:g.28542562C>T							p.R640R	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	2537	-			640						Silent	SNP	ENST00000452236.2	37	c.1920G>A	CCDS34355.1																																																																																				0.403	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	400	0	0	0	1	0	5	400					T	28542562	C	T	28542562	2	4	74	1	0	0	0	0	0	0	0	1	13926	726	26	2		2	SCAND3	6	28542562	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	40676	28542562	142572505	65	9250											
OR2J2	26707	broad.mit.edu	37	chr6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-													gaaaaagatgaatgatgattAaaaaaaatgcaagttcggaa					rs556940268|rs201438710	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aaafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													AAAAAAAA|AAAAAAAA|AAAAAAA|deletion	21	0.00419329	0.0144	0.0014	5008	,	,		19015	0.0		0.001	False		,,,				2504	0.0					ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(10-12)aafs		olfactory receptor, family 2, subfamily J, member 2							105	102	103					6																	29141422		1836	4079	5915	SO:0001589	frameshift_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141422delA		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.10delA	6.37:g.29141422delA	ENSP00000366372:p.Lys5fs						p.K5fs	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	112	+			5					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Frame_Shift_Del	DEL	ENST00000377167.2	37	c.10delA	CCDS43434.1																																																																																				0.358	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			7	592						7	592	---	---	---	---	-	29141422	A	-	29141422	7	5	74	1	0	1	0	1	0	0	0	0	11045	363	13	0	12	0	OR2J2	6	29141422	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	598860	29141422	141973645	66	9251											
PPP1R10	5514	broad.mit.edu	37	chr6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-													ctcctctggcgcctcggaatGgaggaggaggaggaggaggt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.67	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		10	361						10	361	---	---	---	---	-	30570266	GGA	-	30570264	7	5	74	1	0	1	0	1	0	0	0	0	12399	1348	47	0	668	0	PPP1R10	6	30570264	In_Frame_Del	DEL	GGA	TCGA-HZ-A77P-01A-11D-A33T-08	1428842	30570264	140544803	67	9252											
BRD2	6046	broad.mit.edu	37	chr6	32944348	32944348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctgcagaaaaaaggcGtaaagcggaaagcagatact	10	7	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:32944348G>A	ENST00000374825.4	+	7	2536	c.835G>A	c.(835-837)Gta>Ata	p.V279I	BRD2_ENST00000374831.4_Missense_Mutation_p.V279I|BRD2_ENST00000395287.1_Missense_Mutation_p.V279I|BRD2_ENST00000443797.2_Missense_Mutation_p.V159I|BRD2_ENST00000449085.2_Missense_Mutation_p.V232I|BRD2_ENST00000395289.2_Missense_Mutation_p.V279I	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	279					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GAAAAAAGGCGTAAAGCGGAA	0.527																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(835-837)Gta>Ata		bromodomain containing 2							97	82	88					6																	32944348		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944348G>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.835G>A	6.37:g.32944348G>A	ENSP00000363958:p.Val279Ile					BRD2_ENST00000449085.2_Missense_Mutation_p.V232I|BRD2_ENST00000395287.1_Missense_Mutation_p.V279I|BRD2_ENST00000374831.4_Missense_Mutation_p.V279I|BRD2_ENST00000443797.2_Missense_Mutation_p.V159I|BRD2_ENST00000374825.4_Missense_Mutation_p.V279I	p.V279I			P25440	BRD2_HUMAN			7	2436	+			279					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.835G>A	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802795	0.50315	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.10668	3.0;3.0;2.93;2.85;2.93;3.0	5.19	4.3	0.51218	.	0.152896	0.30501	N	0.009496	T	0.07503	0.0189	M	0.79011	2.435	0.49798	D	0.999826	P;B	0.42357	0.777;0.337	B;B	0.35859	0.212;0.117	T	0.06250	-1.0837	10	0.48119	T	0.1	-14.9696	12.9546	0.58418	0.0:0.0:0.8368:0.1631	.	279;279	A2AAU0;P25440	.;BRD2_HUMAN	I	279;279;279;159;279;232	ENSP00000363958:V279I;ENSP00000363964:V279I;ENSP00000378704:V279I;ENSP00000413495:V159I;ENSP00000378702:V279I;ENSP00000409145:V232I	ENSP00000363958:V279I	V	+	1	0	BRD2	33052326	1.000000	0.71417	0.953000	0.39169	0.878000	0.50629	9.592000	0.98245	1.516000	0.48900	0.549000	0.68633	GTA		0.527	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			5	417	0	0	0	1	0	5	417					A	32944348	G	A	32944348	3	1	74	1	0	0	0	0	1	0	0	0	1506	1145	40	1	857	1	BRD2	6	32944348	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	2374084	32944348	138170719	68	9253											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	169	0	0	0	1	0	7	169					A	45390463	G	A	45390463	2	1	74	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	12446115	45390463	125724604	69	9254	61	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	159	0	0	0	1	0	5	159					G	45390466	A	G	45390466	2	3	74	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	3	45390466	125724601	70	9255	61	2									
FILIP1	27145	broad.mit.edu	37	chr6	76022448	76022448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactttgaggattgtccGtcccatgggcatttcctggg	14	9	0	2	rs201283216		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:76022448G>A	ENST00000237172.7	-	5	3430	c.3100C>T	c.(3100-3102)Cgg>Tgg	p.R1034W	FILIP1_ENST00000393004.2_Missense_Mutation_p.R1034W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGATTGTCCGTCCCATGGGC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20359	0.001		0.0	False		,,,				2504	0.0					ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3100-3102)Cgg>Tgg		filamin A interacting protein 1		G	TRP/ARG	0,4406		0,0,2203	195	198	197		3100	4.9	1	6		197	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FILIP1	NM_015687.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1034/1214	76022448	2,13004	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022448G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3100C>T	6.37:g.76022448G>A	ENSP00000237172:p.Arg1034Trp					FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR	p.R1034W			Q7Z7B0	FLIP1_HUMAN			5	3321	-			1034					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3100C>T	CCDS4984.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.48	3.632208	0.67015	0.0	2.33E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21543	2.0;2.0;2.01	6.03	4.88	0.63580	.	0.090765	0.64402	D	0.000001	T	0.29458	0.0734	L	0.55481	1.735	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.994	T	0.07347	-1.0777	10	0.72032	D	0.01	-28.613	12.2258	0.54459	0.0:0.0:0.2831:0.7169	.	1034;1034;1034	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	1034;1034;935	ENSP00000376728:R1034W;ENSP00000237172:R1034W;ENSP00000359037:R935W	ENSP00000237172:R1034W	R	-	1	2	FILIP1	76079168	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.142000	0.42177	1.110000	0.41699	-0.262000	0.10625	CGG		0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		6	1029	0	0	0	1	0	6	1029					A	76022448	G	A	76022448	3	1	74	1	0	0	0	0	1	0	0	0	5919	1144	40	1	549	1	FILIP1	6	76022448	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	30631982	76022448	95092619	71	9256											
GRIK2	2898	broad.mit.edu	37	chr6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaataagtattttgtaccGcaagcccaatggtacaaacc	8	9	0	0	rs141189363		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:102337618G>A	ENST00000421544.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R543H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	543					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)			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)	ATTTTGTACCGCAAGCCCAAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14787	0.0		0.0	False		,,,				2504	0.0					ENST00000369138.1																			0				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						c.(1627-1629)cGc>cAc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	179	174	176		1628,1628,1628	5.6	1	6	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	29,29,29	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	possibly-damaging,possibly-damaging,possibly-damaging	543/893,543/909,543/870	102337618	5,13001	2203	4300	6503	SO:0001583	missense	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.chr6:102337618G>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.1628G>A	6.37:g.102337618G>A	ENSP00000397026:p.Arg543His					GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	p.R543H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	11	2118	+		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)	543					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1628G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374924	0.82573	6.81E-4	2.33E-4	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.54071	2.55;2.55;2.55;0.59;2.55;2.55;2.55	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.104915	0.64402	D	0.000002	T	0.45617	0.1351	M	0.69463	2.115	0.80722	D	1	P;P;P	0.40875	0.731;0.611;0.731	B;B;B	0.37888	0.26;0.133;0.26	T	0.56025	-0.8047	10	0.66056	D	0.02	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	543;543;543	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	543;543;543;543;543;543;494;142	ENSP00000397026:R543H;ENSP00000405596:R543H;ENSP00000358134:R543H;ENSP00000358133:R543H;ENSP00000313276:R543H;ENSP00000358130:R494H;ENSP00000407140:R142H	ENSP00000313276:R543H	R	+	2	0	GRIK2	102444311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	CGC		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	790	0	0	0	1	0	6	790					A	102337618	G	A	102337618	3	1	74	1	0	0	0	0	1	0	0	0	6804	1087	38	1	1670	1	GRIK2	6	102337618	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	26315170	102337618	68777449	72	9257											
FOXO3	2309	broad.mit.edu	37	chr6	108985227	108985227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggataacatcacgctcccGccatcccagccatcgcccac	6	20	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:108985227G>A	ENST00000343882.6	+	3	1495	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	FOXO3_ENST00000406360.1_Silent_p.P397P|FOXO3_ENST00000540898.1_Silent_p.P177P	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	397					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TCACGCTCCCGCCATCCCAGC	0.587																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1189-1191)ccG>ccA		forkhead box O3							39	41	40					6																	108985227		2202	4298	6500	SO:0001819	synonymous_variant	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985227G>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1191G>A	6.37:g.108985227G>A						FOXO3_ENST00000343882.6_Silent_p.P397P|FOXO3_ENST00000540898.1_Silent_p.P177P	p.P397P	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1534	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	397					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	c.1191G>A	CCDS5068.1																																																																																				0.587	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			5	411	0	0	0	1	0	5	411					A	108985227	G	A	108985227	2	1	74	1	0	0	0	0	0	0	0	1	6051	1074	38	1		1	FOXO3	6	108985227	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	6647609	108985227	62129840	73	9258											
MAN1A1	4121	broad.mit.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	7	8	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					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.R545W(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)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193	190	191					6																	119509656		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.chr6:119509656G>A	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.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp						p.R545W	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2074	-		all_epithelial(87;0.173)	545					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1633C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		5	647	0	0	0	1	0	5	647					A	119509656	G	A	119509656	3	1	74	1	0	0	0	0	1	0	0	0	9251	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	10524429	119509656	51605411	74	9259											
GRM1	2911	broad.mit.edu	37	chr6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-													agggcttgccccctcctctcCagcagcagcagcaaccccct							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.66	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		9	831						9	831	---	---	---	---	-	146755401	CAG	-	146755399	7	5	74	1	0	1	0	1	0	0	0	0	6826	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-HZ-A77P-01A-11D-A33T-08	27245743	146755399	24359668	75	9260											
GTF2I	2969	broad.mit.edu	37	chr7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacatgagcttctgaAttcaacacgtgaagatttac	7	8	3	5			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358																																						ENST00000324896.4																			7	Substitution - Missense(7)	p.N440S(7)	endometrium(7)	NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1318-1320)aAt>aGt		general transcription factor IIi							111	102	105					7																	74148279		2201	4300	6501	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74148279A>G	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1319A>G	7.37:g.74148279A>G	ENSP00000322542:p.Asn440Ser					GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	p.N440S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			16	1708	+			440					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.1319A>G	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085752	0.55861	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.35236	1.34;1.32;1.32;1.32	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	T	0.40670	0.1126	N	0.16368	0.405	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.971;0.99;0.998;0.982	D;P;D;D;D	0.76071	0.97;0.717;0.979;0.987;0.952	T	0.31052	-0.9957	10	0.45353	T	0.12	-19.2887	11.2081	0.48782	1.0:0.0:0.0:0.0	.	418;399;420;419;440	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	440;435;420;419;399	ENSP00000322542:N440S;ENSP00000322671:N420S;ENSP00000322599:N419S;ENSP00000387651:N399S	ENSP00000322542:N440S	N	+	2	0	GTF2I	73786215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.703000	0.54808	1.839000	0.53478	0.477000	0.44152	AAT		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		6	645	0	0	0	1	0	6	645					G	74148279	A	G	74148279	3	3	74	1	0	0	0	0	1	0	0	0	6897	101	4	4	1377	4	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08		74148279	84990384	76	9261											
ABCB4	5244	broad.mit.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A													gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	135						7	135	---	---	---	---	A	87074282	-	A	87074281	7	5	74	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	12926002	87074281	72064382	77	9262											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		7	24						7	24	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	74	1	0	1	1	0	0	0	0	0	4591	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	9561139	96635420	62503243	78	9263											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	334						8	334	---	---	---	---	-	114270018	CAG	-	114270016	7	5	74	1	0	1	0	1	0	0	0	0	6054	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HZ-A77P-01A-11D-A33T-08	17634596	114270016	44868647	79	9264											
FAM71F1	84691	broad.mit.edu	37	chr7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtctcagatttttgCcgacttacaccagcagaacc	7	14	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5																			1	Substitution - Missense(1)	p.A261V(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc		family with sequence similarity 71, member F1							118	116	117					7																	128363345		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128363345C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val					FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	p.A261V	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			4	835	+			261					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	FAM71F1	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		6	699	0	0	0	1	0	6	699					T	128363345	C	T	128363345	3	4	74	1	0	0	0	0	1	0	0	0	5637	739	26	2	796	2	FAM71F1	7	128363345	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	14093329	128363345	30775318	80	9265											
EXOC4	60412	broad.mit.edu	37	chr7	132990791	132990791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactagccgagttgtgcagcGtaacaaggaaaaagggaaaa	13	6	0	0	rs140653799		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:132990791G>A	ENST00000253861.4	+	4	661	c.632G>A	c.(631-633)cGt>cAt	p.R211H	EXOC4_ENST00000393161.2_Missense_Mutation_p.R211H|EXOC4_ENST00000539845.1_Missense_Mutation_p.R110H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	211					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGTGCAGCGTAACAAGGAA	0.428																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(631-633)cGt>cAt		exocyst complex component 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	109	95	100		632,632	2.9	0.7	7	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EXOC4	NM_001037126.1,NM_021807.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	211/474,211/975	132990791	1,13005	2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132990791G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.632G>A	7.37:g.132990791G>A	ENSP00000253861:p.Arg211His					EXOC4_ENST00000539845.1_Missense_Mutation_p.R110H|EXOC4_ENST00000393161.2_Missense_Mutation_p.R211H	p.R211H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			4	661	+		Esophageal squamous(399;0.129)	211					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.632G>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039673	0.55003	0.0	1.16E-4	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	4.91	2.93	0.34026	.	0.265519	0.36665	N	0.002470	T	0.44808	0.1311	L	0.45581	1.43	0.80722	D	1	B;B	0.16802	0.019;0.001	B;B	0.04013	0.001;0.0	T	0.20874	-1.0262	9	0.18710	T	0.47	.	8.6968	0.34301	0.0857:0.0:0.7673:0.147	.	211;211	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	211;211;110	.	ENSP00000253861:R211H	R	+	2	0	EXOC4	132641331	0.975000	0.34042	0.678000	0.29963	0.990000	0.78478	1.560000	0.36331	0.470000	0.27294	0.655000	0.94253	CGT		0.428	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		5	301	0	0	0	1	0	5	301					A	132990791	G	A	132990791	3	1	74	1	0	0	0	0	1	0	0	0	5324	1145	40	1	646	1	EXOC4	7	132990791	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	4627446	132990791	26147872	81	9266											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-													agacgcaggccagtggggctGggggggcctccctggtggca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46	59	55			-4.1	1	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			8	926						8	926	---	---	---	---	-	142562309	G	-	142562309	7	5	74	1	0	1	0	1	0	0	0	0	5196	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-HZ-A77P-01A-11D-A33T-08	9571518	142562309	16576354	82	9267											
MLL3	58508	broad.mit.edu	37	chr7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatacctatcacattgtctAcattgcagaataagatcttc	4	10	3	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																						ENST00000355193.2																			10	Substitution - Nonsense(10)	p.C1103*(10)	kidney(6)|endometrium(4)								c.(3307-3309)tgT>tgA		lysine (K)-specific methyltransferase 2C							56	51	52					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151921114A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C1103*	p.C1103*							20	3527	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3309T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	338	0	0	0	1	0	5	338					T	151921114	A	T	151921114	4	4	74	1	0	0	0	0	0	1	0	0	9663	389	14	5	11586	5	MLL3	7	151921114	Nonsense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	9358805	151921114	7217549	83	9268											
RP1L1	94137	broad.mit.edu	37	chr8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggcctctaTaccttctgactctggctggg	11	13	5	1	rs200407750		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				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						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158	172	168					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	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.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			11	1657	0	0	0	1	0	11	1657					C	10465022	T	C	10465022	3	2	74	1	0	0	0	0	1	0	0	0	13583	1406	49	4	620	4	RP1L1	8	10465022	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08		10465022	135899000	84	9269											
XPO7	23039	broad.mit.edu	37	chr8	21846540	21846540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgaagtactggggccGttgtgaaccaatcacctcca	9	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:21846540G>A	ENST00000252512.9	+	16	1914	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000434536.1_Missense_Mutation_p.R614H	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	605					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACTGGGGCCGTTGTGAACCA	0.448																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1840-1842)cGt>cAt		exportin 7							109	113	112					8																	21846540		1900	4123	6023	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21846540G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1814G>A	8.37:g.21846540G>A	ENSP00000252512:p.Arg605His					XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000252512.9_Missense_Mutation_p.R605H	p.R614H			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	16	1943	+			605					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1841G>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390951	0.42410	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65916	-0.18;-0.18;-0.18	5.89	5.89	0.94794	Armadillo-type fold (1);	0.052693	0.85682	D	0.000000	T	0.50240	0.1604	N	0.16656	0.425	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.36359	-0.9751	10	0.37606	T	0.19	-10.0541	19.8455	0.96706	0.0:0.0:1.0:0.0	.	606;614;605	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	H	614;605;606	ENSP00000404853:R614H;ENSP00000252512:R605H;ENSP00000410249:R606H	ENSP00000252512:R605H	R	+	2	0	XPO7	21902486	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.327000	0.79147	2.800000	0.96347	0.650000	0.86243	CGT		0.448	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		16	148	0	0	0	1	0	16	148					A	21846540	G	A	21846540	3	1	74	1	0	0	0	0	1	0	0	0	17503	1145	40	1	1928	1	XPO7	8	21846540	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	11381518	21846540	124517482	85	9270											
CNBD1	168975	broad.mit.edu	37	chr8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctttggtgagattagcGtccttcttcaagttcctttc	8	10	2	1	rs376314855		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323																																						ENST00000518476.1																			1	Substitution - Missense(1)	p.V407I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1219-1221)Gtc>Atc		cyclic nucleotide binding domain containing 1		G	ILE/VAL	1,3681		0,1,1840	101	98	99		1219	2.7	0.4	8		99	2,8166		0,2,4082	no	missense	CNBD1	NM_173538.2	29	0,3,5922	AA,AG,GG		0.0245,0.0272,0.0253	benign	407/437	88365930	3,11847	1841	4084	5925	SO:0001583	missense	168975							g.chr8:88365930G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1219G>A	8.37:g.88365930G>A	ENSP00000430073:p.Val407Ile						p.V407I	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1270	+			407						Missense_Mutation	SNP	ENST00000518476.1	37	c.1219G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388099	0.25118	2.72E-4	2.45E-4	ENSG00000176571	ENST00000518476	D	0.92397	-3.03	4.98	2.73	0.32206	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.322185	0.21804	N	0.068869	T	0.75273	0.3827	N	0.11560	0.145	0.09310	N	1	P	0.36647	0.563	B	0.28011	0.085	T	0.69789	-0.5050	10	0.05351	T	0.99	-13.7869	6.2957	0.21085	0.2887:0.0:0.7113:0.0	.	407	Q8NA66	CNBD1_HUMAN	I	407	ENSP00000430073:V407I	ENSP00000430073:V407I	V	+	1	0	CNBD1	88435046	0.171000	0.23029	0.437000	0.26809	0.931000	0.56810	-0.057000	0.11768	0.288000	0.22398	0.555000	0.69702	GTC		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		32	219	0	0	0	1	0	32	219					A	88365930	G	A	88365930	3	1	74	1	0	0	0	0	1	0	0	0	3600	1145	40	1	1257	1	CNBD1	8	88365930	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	66519390	88365930	57998092	86	9271											
SLC26A7	115111	broad.mit.edu	37	chr8	92378867	92378867	+	Frame_Shift_Del	DEL	A	A	-													ccgcttgttttcctgaatgcAaaaaaattttatactgattt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:92378867delA	ENST00000276609.3	+	14	1787	c.1548delA	c.(1546-1548)gcafs	p.A516fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTGAATGCAAAAAAATTTT	0.348																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1546-1548)gcfs		solute carrier family 26 (anion exchanger), member 7							61	66	64					8																	92378867		2203	4298	6501	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378867delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1548delA	8.37:g.92378867delA	ENSP00000276609:p.Ala516fs					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs	p.A516fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		14	1787	+			516			STAS.			Frame_Shift_Del	DEL	ENST00000276609.3	37	c.1548delA	CCDS6254.1																																																																																				0.348	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			7	513						7	513	---	---	---	---	-	92378867	A	-	92378867	7	5	74	1	0	1	0	1	0	0	0	0	14572	117	5	0	1598	0	SLC26A7	8	92378867	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	4012937	92378867	53985155	87	9272											
MATN2	4147	broad.mit.edu	37	chr8	99045355	99045355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatctgtttgaagaagaCaatcttttacggtctacaca	7	7	3	4			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:99045355C>T	ENST00000520016.1	+	16	2791	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000524308.1_Silent_p.D848D|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Silent_p.D889D|MATN2_ENST00000522025.2_Silent_p.D605D			O00339	MATN2_HUMAN	matrilin 2	889						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			TTGAAGAAGACAATCTTTTAC	0.358																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2665-2667)gaC>gaT		matrilin 2							86	74	78					8																	99045355		1821	4084	5905	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99045355C>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.2667C>T	8.37:g.99045355C>T						RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000522025.2_Silent_p.D605D|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000520016.1_Silent_p.D889D	p.D889D	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		17	2898	+	Breast(36;1.43e-06)		889					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.2667C>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.191|8.191	0.795925|0.795925	0.16327|0.16327	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000519582;ENST00000522135	.|.	.|.	.|.	5.76|5.76	1.72|1.72	0.24424|0.24424	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51736	.|0.1692	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42899	.|-0.9424	.|4	.|.	.|.	.|.	-37.6152|-37.6152	5.185|5.185	0.15180|0.15180	0.0:0.5998:0.1496:0.2506|0.0:0.5998:0.1496:0.2506	.|.	.|.	.|.	.|.	X|I	653|126;52	.|.	.|.	Q|T	+|+	1|2	0|0	MATN2|MATN2	99114531|99114531	0.064000|0.064000	0.20934|0.20934	0.989000|0.989000	0.46669|0.46669	0.981000|0.981000	0.71138|0.71138	-0.162000|-0.162000	0.10012|0.10012	0.790000|0.790000	0.33803|0.33803	-0.137000|-0.137000	0.14449|0.14449	CAA|ACA		0.358	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			6	80	0	0	0	1	0	6	80					T	99045355	C	T	99045355	2	4	74	1	0	0	0	0	0	0	0	1	9375	477	17	2		2	MATN2	8	99045355	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6666488	99045355	47318667	88	9273											
TAF2	6873	broad.mit.edu	37	chr8	120770369	120770369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagccattgcagttcttcAtaacttctgtccactgaaaa	6	10	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:120770369A>G	ENST00000378164.2	-	21	3010	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	904					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)			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)			GCAGTTCTTCATAACTTCTGT	0.289																																						ENST00000378164.2																			0				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						c.(2710-2712)taT>taC		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							139	140	140					8																	120770369		2203	4298	6501	SO:0001819	synonymous_variant	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.chr8:120770369A>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2712T>C	8.37:g.120770369A>G						TAF2_ENST00000519355.1_5'UTR	p.Y904Y	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		21	3010	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		904					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.2712T>C	CCDS34937.1																																																																																				0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		62	616	0	0	0	1	0	62	616					G	120770369	A	G	120770369	2	3	74	1	0	0	0	0	0	0	0	1	15576	224	8	4		4	TAF2	8	120770369	Silent	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	21725014	120770369	25593653	89	9274											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	11	279						11	279	---	---	---	---	T	124140521	-	T	124140520	8	5	74	1	0	1	1	0	0	0	1	0	17372	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	3370151	124140520	22223502	90	9275											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	1320						7	1320	---	---	---	---	-	94172779	T	-	94172779	7	5	74	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08		94172779	47040652	91	9276											
KLF4	9314	broad.mit.edu	37	chr9	110249364	110249364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgtaggttttgccGcagcccgcgtaatcacaagt	10	11	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:110249364G>A	ENST00000374672.4	-	4	1682	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	437	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						AGGTTTTGCCGCAGCCCGCGT	0.602																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1207-1209)tgC>tgT		Kruppel-like factor 4 (gut)							272	244	254					9																	110249364		2203	4300	6503	SO:0001819	synonymous_variant	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249364G>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1209C>T	9.37:g.110249364G>A							p.C403C	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1682	-			437			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Silent	SNP	ENST00000374672.4	37	c.1209C>T	CCDS6770.2																																																																																				0.602	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		7	867	0	0	0	1	0	7	867					A	110249364	G	A	110249364	2	1	74	1	0	0	0	0	0	0	0	1	8378	1079	38	1		1	KLF4	9	110249364	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16076585	110249364	30964067	92	9277											
COL27A1	85301	broad.mit.edu	37	chr9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-													cgcggggggcccgaggcacaGcggcggcggcggcggcgcgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(37-39)del		collagen, type XXVII, alpha 1				52,1722		7,38,842						1.8	1			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918267_116918269delGCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del						p.A18del	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			1	428_430	+			18					Q66K43|Q96JF7	In_Frame_Del	DEL	ENST00000356083.3	37	c.37_39delGCG	CCDS6802.1																																																																																				0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		9	131						9	131	---	---	---	---	-	116918269	GCG	-	116918267	7	5	74	1	0	1	0	1	0	0	0	0	3694	971	34	0	39	0	COL27A1	9	116918267	In_Frame_Del	DEL	GCG	TCGA-HZ-A77P-01A-11D-A33T-08	6668903	116918267	24295164	93	9278											
LCN12	286256	broad.mit.edu	37	chr9	139847425	139847425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctgaacgctttcaccGcaacttttgagctaagtgat	9	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:139847425G>A	ENST00000371633.3	+	2	196	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	66					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCTTTCACCGCAACTTTTGA	0.617																																						ENST00000371633.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(196-198)Gca>Aca		lipocalin 12							111	129	123					9																	139847425		2172	4264	6436	SO:0001583	missense	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847425G>A	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.196G>A	9.37:g.139847425G>A	ENSP00000360696:p.Ala66Thr						p.A66T	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	196	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	66					A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	c.196G>A	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	G	1.973	-0.435992	0.04636	.	.	ENSG00000184925	ENST00000371633	T	0.09445	2.98	3.9	-1.13	0.09775	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.826239	0.09867	N	0.745394	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	P;P	0.52577	0.761;0.954	B;B	0.44224	0.444;0.339	T	0.10941	-1.0608	10	0.02654	T	1	-4.8758	8.9568	0.35823	0.6364:0.0:0.3636:0.0	.	66;66	Q8IW14;Q6JVE5	.;LCN12_HUMAN	T	66	ENSP00000360696:A66T	ENSP00000360696:A66T	A	+	1	0	LCN12	138967246	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.865000	0.04250	-0.071000	0.12886	-0.367000	0.07326	GCA		0.617	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		7	986	0	0	0	1	0	7	986					A	139847425	G	A	139847425	3	1	74	1	0	0	0	0	1	0	0	0	8713	1087	38	1	202	1	LCN12	9	139847425	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	22929158	139847425	1366006	94	9279											
ENTPD2	954	broad.mit.edu	37	chr9	139946106	139946106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgcatagctggagatgCccccacctagagggaggcag	14	11	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:139946106C>T	ENST00000355097.2	-	3	289	c.242G>A	c.(241-243)gGc>gAc	p.G81D	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Missense_Mutation_p.G81D	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	81					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGGAGATGCCCCCACCTAG	0.647																																						ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(241-243)gGc>gAc		ectonucleoside triphosphate diphosphohydrolase 2							34	35	34					9																	139946106		2197	4297	6494	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139946106C>T	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.242G>A	9.37:g.139946106C>T	ENSP00000347213:p.Gly81Asp					ENTPD2_ENST00000312665.5_Missense_Mutation_p.G81D	p.G81D	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	289	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	81					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.242G>A	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771136	0.90108	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.26957	1.7;1.7	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.68265	-0.5454	10	0.87932	D	0	-20.3732	15.4121	0.74933	0.0:1.0:0.0:0.0	.	81;81	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	D	81	ENSP00000347213:G81D;ENSP00000312494:G81D	ENSP00000312494:G81D	G	-	2	0	ENTPD2	139065927	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.742000	0.68646	2.099000	0.63709	0.561000	0.74099	GGC		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		4	199	0	0	0	1	0	4	199					T	139946106	C	T	139946106	3	4	74	1	0	0	0	0	1	0	0	0	5157	739	26	2	1273	2	ENTPD2	9	139946106	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	98681	139946106	1267325	95	9280											
SVIL	6840	broad.mit.edu	37	chr10	29822208	29822208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggacatagccacggattGgctgtcgtgtagagcctgct	14	9	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:29822208G>A	ENST00000355867.4	-	8	1840	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.P363L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	363					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCCACGGATTGGCTGTCGTGT	0.557																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1087-1089)cCa>cTa		supervillin							89	75	79					10																	29822208		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822208G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1088C>T	10.37:g.29822208G>A	ENSP00000348128:p.Pro363Leu					SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P363L	p.P363L			O95425	SVIL_HUMAN			10	1537	-		Breast(68;0.103)	363					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1088C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222354	0.58560	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.50277	0.75;0.75	5.85	4.01	0.46588	.	0.127449	0.51477	N	0.000083	T	0.50394	0.1613	M	0.71581	2.175	0.80722	D	1	P	0.51933	0.949	P	0.45310	0.476	T	0.51710	-0.8671	9	.	.	.	-7.9583	12.1685	0.54144	0.137:0.0:0.863:0.0	.	363	O95425	SVIL_HUMAN	L	363	ENSP00000364547:P363L;ENSP00000348128:P363L	.	P	-	2	0	SVIL	29862214	0.999000	0.42202	0.113000	0.21522	0.654000	0.38779	2.965000	0.49200	0.823000	0.34589	0.655000	0.94253	CCA		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			39	343	0	0	0	1	0	39	343					A	29822208	G	A	29822208	3	1	74	1	0	0	0	0	1	0	0	0	15473	1348	47	2	5680	2	SVIL	10	29822208	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		29822208	105712539	96	9281											
CUL2	8453	broad.mit.edu	37	chr10	35317808	35317808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgagtaagaggccacGcaccagcctagaaggaaaaa	12	10	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:35317808G>A	ENST00000374748.1	-	17	1860	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V			Q13617	CUL2_HUMAN	cullin 2	516					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGAGGCCACGCACCAGCCTA	0.318																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1546-1548)gCg>gTg		cullin 2							35	37	36					10																	35317808		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35317808G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1547C>T	10.37:g.35317808G>A	ENSP00000363880:p.Ala516Val					CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V	p.A516V			Q13617	CUL2_HUMAN			17	1860	-			516					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1547C>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511389	0.96386	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.995	D	0.84150	0.0422	10	0.59425	D	0.04	-21.1493	20.3626	0.98863	0.0:0.0:1.0:0.0	.	516;535;516	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	516;516;516;516;459;516;535	ENSP00000363883:A516V;ENSP00000363880:A516V;ENSP00000363878:A516V;ENSP00000363881:A516V;ENSP00000363874:A516V;ENSP00000444856:A535V	ENSP00000363874:A516V	A	-	2	0	CUL2	35357814	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	9.864000	0.99589	2.885000	0.99019	0.655000	0.94253	GCG		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		25	201	0	0	0	1	0	25	201					A	35317808	G	A	35317808	3	1	74	1	0	0	0	0	1	0	0	0	4066	1087	38	1	714	1	CUL2	10	35317808	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5495600	35317808	100216939	97	9282											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87	78	81					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N	p.K951N			Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	478	0	0	0	1	0	9	478					C	37486356	G	C	37486356	3	2	74	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	2168548	37486356	98048391	98	9283											
BMS1	9790	broad.mit.edu	37	chr10	43318566	43318566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttgctatacctgtagGgaatgtttaattctgccttg	8	7	2	0	rs200948384		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e20-1		BMS1 ribosome biogenesis factor							73	81	78					10																	43318566		2202	4298	6500	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318566G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3133-1G>A	10.37:g.43318566G>A							p.G1045_splice	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3196	+			1045					Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37	c.3132_splice	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473226	0.84640	.	.	ENSG00000165733	ENST00000374518	T	0.16457	2.34	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59984	-0.7351	9	.	.	.	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1045	Q14692	BMS1_HUMAN	R	1045	ENSP00000363642:G1045R	.	G	+	1	0	BMS1	42638572	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.439000	0.97543	2.250000	0.74265	0.454000	0.30748	GGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Missense_Mutation	6	655	0	0	0	1	0	6	655					A	43318566	G	A	43318566	5	1	74	1	0	0	0	0	0	0	1	0	1474	1246	43	2	3207	2	BMS1	10	43318566	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5832210	43318566	92216181	99	9284											
HK1	3098	broad.mit.edu	37	chr10	71075738	71075738	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcacagcctgagtttgCcctgtcgaggtgctgaggcc	15	11	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:71075738C>T	ENST00000359426.6	+	0	0				HK1_ENST00000448642.2_Intron|HK1_ENST00000360289.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000298649.3_Missense_Mutation_p.P10S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCTGAGTTTGCCCTGTCGAGG	0.587																																						ENST00000298649.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(28-30)Ccc>Tcc		hexokinase 1							232	194	207					10																	71075738		2203	4300	6503	SO:0001631	upstream_gene_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71075738C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380		10.37:g.71075738C>T	Exception_encountered					HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron|HK1_ENST00000448642.2_Intron	p.P10S	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN			1	129	+			0			Hydrophobic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.28C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553897	0.13374	.	.	ENSG00000156515	ENST00000436817;ENST00000298649	D;D	0.98221	-4.8;-4.26	4.12	-1.95	0.07548	.	.	.	.	.	D	0.91660	0.7364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84254	0.0479	9	0.72032	D	0.01	.	0.8486	0.01167	0.1528:0.3408:0.1742:0.3323	.	10	P19367-2	.	S	10	ENSP00000415949:P10S;ENSP00000298649:P10S	ENSP00000298649:P10S	P	+	1	0	HK1	70745744	0.000000	0.05858	0.023000	0.16930	0.186000	0.23388	-1.295000	0.02764	-0.333000	0.08476	0.555000	0.69702	CCC		0.587	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		7	744	0	0	0	1	0	7	744					T	71075738	C	T	71075738	1	4	74	0	1	0	0	0	0	0	0	0	7220	739	26	2		2	HK1	10	71075738	5'Flank	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	27757172	71075738	64459009	100	9285											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406948	75406948	+	Frame_Shift_Del	DEL	A	A	-													gagttcgggccgcctgggggAaaaagggagagagcagtggg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:75406948delA	ENST00000394810.2	-	4	2611	c.2462delT	c.(2461-2463)ttcfs	p.F821fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	821	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCCTGGGGGAAAAAGGGAGA	0.592																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2461-2463)tcfs		synaptopodin 2-like							59	71	67					10																	75406948		2201	4300	6501	SO:0001589	frameshift_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406948delA	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2462delT	10.37:g.75406948delA	ENSP00000378289:p.Phe821fs					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs	p.F821fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2611	-	Prostate(51;0.0112)		821			Pro-rich.		A5PKV9|Q68A20	Frame_Shift_Del	DEL	ENST00000394810.2	37	c.2462delT	CCDS44438.1																																																																																				0.592	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		7	841						7	841	---	---	---	---	-	75406948	A	-	75406948	7	5	74	1	0	1	0	1	0	0	0	0	15510	246	9	0	475	0	SYNPO2L	10	75406948	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	4331210	75406948	60127799	101	9286											
EXOC6	54536	broad.mit.edu	37	chr10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttagatgcttgtatccGtaatcatgacaaggaaattg	9	5	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:94653171G>A	ENST00000260762.6	+	2	181	c.167G>A	c.(166-168)cGt>cAt	p.R56H	EXOC6_ENST00000443748.2_Missense_Mutation_p.R56H|EXOC6_ENST00000371543.1_Missense_Mutation_p.R56H|EXOC6_ENST00000371547.4_Missense_Mutation_p.R72H|EXOC6_ENST00000371552.4_Missense_Mutation_p.R51H	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	56					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(151-153)cGt>cAt		exocyst complex component 6							103	105	104					10																	94653171		2203	4297	6500	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94653171G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.167G>A	10.37:g.94653171G>A	ENSP00000260762:p.Arg56His					EXOC6_ENST00000371547.4_Missense_Mutation_p.R72H|EXOC6_ENST00000371543.1_Missense_Mutation_p.R56H|EXOC6_ENST00000443748.2_Missense_Mutation_p.R56H|EXOC6_ENST00000260762.6_Missense_Mutation_p.R56H	p.R51H	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			2	181	+		Colorectal(252;0.123)	56					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.152G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953411	0.73902	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.52011	1.625	0.31188	N	0.701319	D;D;B;P;P	0.89917	0.998;1.0;0.347;0.603;0.603	P;D;B;B;B	0.64410	0.815;0.925;0.097;0.111;0.066	T	0.46884	-0.9159	10	0.46703	T	0.11	-11.6453	20.6397	0.99537	0.0:0.0:1.0:0.0	.	72;56;48;56;51	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	H	72;51;56;56;56	ENSP00000360602:R72H;ENSP00000360607:R51H;ENSP00000360598:R56H;ENSP00000396206:R56H;ENSP00000260762:R56H	ENSP00000260762:R56H	R	+	2	0	EXOC6	94643151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.948000	0.87774	2.880000	0.98712	0.650000	0.86243	CGT		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		5	414	0	0	0	1	0	5	414					A	94653171	G	A	94653171	3	1	74	1	0	0	0	0	1	0	0	0	5326	1145	40	1	263	1	EXOC6	10	94653171	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	19246223	94653171	40881576	102	9287											
KCNIP2	30819	broad.mit.edu	37	chr10	103590842	103590842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgctttcactgactgaGggcagggcttggggcccgca	14	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:103590842G>A	ENST00000356640.2	-	2	431	c.156C>T	c.(154-156)ccC>ccT	p.P52P	KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000358038.3_Silent_p.P52P|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000353068.3_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	52					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CACTGACTGAGGGCAGGGCTT	0.637																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(154-156)ccC>ccT		Kv channel interacting protein 2							41	42	41					10																	103590842		2203	4300	6503	SO:0001819	synonymous_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103590842G>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.156C>T	10.37:g.103590842G>A						KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000356640.2_Silent_p.P52P|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Intron	p.P52P	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	2	507	-		Colorectal(252;0.122)	52					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Silent	SNP	ENST00000356640.2	37	c.156C>T	CCDS7522.1																																																																																				0.637	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			19	117	0	0	0	1	0	19	117					A	103590842	G	A	103590842	2	1	74	1	0	0	0	0	0	0	0	1	8070	987	35	2		2	KCNIP2	10	103590842	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8937671	103590842	31943905	103	9288											
ITPRIP	85450	broad.mit.edu	37	chr10	106075090	106075090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccaccttgatctggccGtagccctggcgatccagggg	14	14	1	1	rs551319968		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:106075090G>A	ENST00000337478.1	-	2	891	c.720C>T	c.(718-720)taC>taT	p.Y240Y	ITPRIP_ENST00000358187.2_Silent_p.Y240Y|ITPRIP_ENST00000278071.2_Silent_p.Y240Y|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	240						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGATCTGGCCGTAGCCCTGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		19115	0.0		0.0	False		,,,				2504	0.001					ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(718-720)taC>taT		inositol 1,4,5-trisphosphate receptor interacting protein							38	40	39					10																	106075090		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075090G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.720C>T	10.37:g.106075090G>A						ITPRIP_ENST00000337478.1_Silent_p.Y240Y|ITPRIP_ENST00000358187.2_Silent_p.Y240Y	p.Y240Y	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1172	-			240					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.720C>T	CCDS7557.1																																																																																				0.647	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		5	354	0	0	0	1	0	5	354					A	106075090	G	A	106075090	2	1	74	1	0	0	0	0	0	0	0	1	7953	1140	40	1		1	ITPRIP	10	106075090	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	2484248	106075090	29459657	104	9289											
DUSP5	1847	broad.mit.edu	37	chr10	112257969	112257969	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctcgactgccggccCtatctggccttcgctgcctc	12	16	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:112257969C>A	ENST00000369583.3	+	1	374	c.90C>A	c.(88-90)ccC>ccA	p.P30P	RP11-525A16.4_ENST00000609514.1_lincRNA	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	30	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ACTGCCGGCCCTATCTGGCCT	0.736																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(88-90)ccC>ccA		dual specificity phosphatase 5							20	20	20					10																	112257969		2095	4135	6230	SO:0001819	synonymous_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112257969C>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.90C>A	10.37:g.112257969C>A							p.P30P	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	374	+		Breast(234;0.0848)	30			Rhodanese.		Q12997|Q5T603	Silent	SNP	ENST00000369583.3	37	c.90C>A	CCDS7566.1																																																																																				0.736	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		4	227	1	0	0.217242	1	0.218056	4	227					A	112257969	C	A	112257969	2	1	74	1	0	0	0	0	0	0	0	1	4844	668	24	3		3	DUSP5	10	112257969	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6182879	112257969	23276778	105	9290											
BAG3	9531	broad.mit.edu	37	chr10	121429561	121429561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgattccgaactgaggcgGcagcagcggctcctcagagg	15	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:121429561G>A	ENST00000369085.3	+	2	685	c.379G>A	c.(379-381)Gca>Aca	p.A127T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	127	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AACTGAGGCGGCAGCAGCGGC	0.622																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(379-381)Gca>Aca		BCL2-associated athanogene 3							70	75	73					10																	121429561		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429561G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.379G>A	10.37:g.121429561G>A	ENSP00000358081:p.Ala127Thr						p.A127T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	685	+		Lung NSC(174;0.109)|all_lung(145;0.142)	127			WW 2.		A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.379G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604491	0.14002	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74106	-0.81;-0.81	4.62	4.62	0.57501	.	0.408217	0.29376	N	0.012331	T	0.57036	0.2026	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.026;0.026	T	0.35351	-0.9792	10	0.13470	T	0.59	-12.5316	9.3142	0.37924	0.1631:0.0:0.8369:0.0	.	127;127	O95817;Q53GY1	BAG3_HUMAN;.	T	127;69	ENSP00000358081:A127T;ENSP00000410036:A69T	ENSP00000358081:A127T	A	+	1	0	BAG3	121419551	0.566000	0.26618	0.101000	0.21167	0.123000	0.20343	2.405000	0.44548	2.507000	0.84556	0.561000	0.74099	GCA		0.622	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		7	754	0	0	0	1	0	7	754					A	121429561	G	A	121429561	3	1	74	1	0	0	0	0	1	0	0	0	1289	1203	42	2	385	2	BAG3	10	121429561	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	9171592	121429561	14105186	106	9291											
TALDO1	6888	broad.mit.edu	37	chr11	763457	763457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccccatttgttgggcGcatccttgattggcatgtgg	11	11	1	1	rs151052416		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:763457G>A	ENST00000319006.3	+	5	728	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TALDO1_ENST00000528097.1_Missense_Mutation_p.R192H			P37837	TALDO_HUMAN	transaldolase 1	192					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TTTGTTGGGCGCATCCTTGAT	0.582																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14	GRCh37	CM051653	TALDO1	M	rs151052416	c.(574-576)cGc>cAc		transaldolase 1		G	HIS/ARG	0,4406		0,0,2203	154	143	147		575	4	1	11	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	TALDO1	NM_006755.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	192/338	763457	1,13005	2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763457G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.575G>A	11.37:g.763457G>A	ENSP00000321259:p.Arg192His					TALDO1_ENST00000528097.1_Missense_Mutation_p.R192H	p.R192H			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	728	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	192					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.575G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940722	0.92526	0.0	1.16E-4	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.94862	-3.54;-3.54	4.96	4.02	0.46733	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98221	1.0478	10	0.87932	D	0	-16.3729	11.764	0.51920	0.0919:0.0:0.9081:0.0	.	192;192	F2Z393;P37837	.;TALDO_HUMAN	H	192	ENSP00000321259:R192H;ENSP00000437098:R192H	ENSP00000321259:R192H	R	+	2	0	TALDO1	753457	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	9.262000	0.95591	1.162000	0.42619	0.491000	0.48974	CGC		0.582	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		6	798	0	0	0	1	0	6	798					A	763457	G	A	763457	3	1	74	1	0	0	0	0	1	0	0	0	15595	1087	38	1	593	1	TALDO1	11	763457	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		763457	134243059	107	9292											
MUC2	4583	broad.mit.edu	37	chr11	1084365	1084365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacctgtattcttccggcGccaagatcaaggtggactgc	11	12	2	1	rs377143806		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:1084365G>A	ENST00000441003.2	+	19	2524	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T	MUC2_ENST00000359061.5_Missense_Mutation_p.A833T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	833					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCTTCCGGCGCCAAGATCAA	0.647																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2497-2499)Gcc>Acc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	G	THR/ALA	0,4268		0,0,2134	79	90	86		2497	-0.3	0	11		86	1,8487		0,1,4243	no	missense	MUC2	NM_002457.2	58	0,1,6377	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	833/2813	1084365	1,12755	2134	4244	6378	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1084365G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2497G>A	11.37:g.1084365G>A	ENSP00000415183:p.Ala833Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A833T	p.A833T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	19	2524	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	833					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2497G>A		.	.	.	.	.	.	.	.	.	.	G	2.859	-0.236581	0.05944	0.0	1.18E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.64618	-0.11;-0.11	4.22	-0.284	0.12870	.	1.647590	0.03595	N	0.232422	T	0.40171	0.1106	N	0.11724	0.165	0.09310	N	1	P	0.35124	0.485	B	0.24848	0.056	T	0.37549	-0.9701	10	0.59425	D	0.04	.	6.242	0.20795	0.2258:0.3718:0.4024:0.0	.	833	E7EUV1	.	T	833	ENSP00000415183:A833T;ENSP00000351956:A833T	ENSP00000351956:A833T	A	+	1	0	MUC2	1074365	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.456000	0.06754	0.073000	0.16731	0.555000	0.69702	GCC		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	219	0	0	0	1	0	4	219					A	1084365	G	A	1084365	3	1	74	1	0	0	0	0	1	0	0	0	10016	1087	38	1	2571	1	MUC2	11	1084365	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	320908	1084365	133922151	108	9293											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	1445	0	0	0	1	0	7	1445					A	1629156	T	A	1629156	3	1	74	1	0	0	0	0	1	0	0	0	8593	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	544791	1629156	133377360	109	9294											
OR51A4	401666	broad.mit.edu	37	chr11	4968175	4968175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgcaaggagggctctgtCttgatgataaaaagaatggt	12	5	3	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:4968175C>A	ENST00000380373.2	-	1	181	c.156G>T	c.(154-156)aaG>aaT	p.K52N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCTCTGTCTTGATGATAA	0.433																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(154-156)aaG>aaT		olfactory receptor, family 51, subfamily A, member 4							139	128	132					11																	4968175		2198	4298	6496	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968175C>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.156G>T	11.37:g.4968175C>A	ENSP00000369731:p.Lys52Asn					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.K52N	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	181	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	52						Missense_Mutation	SNP	ENST00000380373.2	37	c.156G>T	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	6.353	0.433199	0.12045	.	.	ENSG00000205497	ENST00000380373	T	0.03004	4.08	3.53	-0.808	0.10868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08714	0.0216	M	0.82433	2.59	0.09310	N	1	B	0.27498	0.18	B	0.37451	0.25	T	0.27706	-1.0066	9	0.41790	T	0.15	.	8.3068	0.32047	0.0:0.6345:0.0:0.3655	.	52	Q8NGJ6	O51A4_HUMAN	N	52	ENSP00000369731:K52N	ENSP00000369731:K52N	K	-	3	2	OR51A4	4924751	0.000000	0.05858	0.254000	0.24359	0.361000	0.29550	-2.701000	0.00824	-0.259000	0.09432	0.562000	0.76482	AAG		0.433	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		7	573	1	0	1.61788e-16	1	1.79914e-16	7	573					A	4968175	C	A	4968175	3	1	74	1	0	0	0	0	1	0	0	0	11129	912	32	3	787	3	OR51A4	11	4968175	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	3339019	4968175	130038341	110	9295											
ARNTL	406	broad.mit.edu	37	chr11	13408297	13408297	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgacttgccatggccGctgtaaacactacatgttgc	9	10	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:13408297G>T	ENST00000403290.1	+	20	2230	c.1875G>T	c.(1873-1875)ccG>ccT	p.P625P	ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000403510.3_Silent_p.P581P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000401424.1_Silent_p.P582P			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	625					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCCATGGCCGCTGTAAACAC	0.468																																						ENST00000401424.1																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(1744-1746)ccG>ccT		aryl hydrocarbon receptor nuclear translocator-like							147	121	130					11																	13408297		2200	4294	6494	SO:0001819	synonymous_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13408297G>T	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1875G>T	11.37:g.13408297G>T						ARNTL_ENST00000403290.1_Silent_p.P625P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000403510.3_Silent_p.P581P	p.P582P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	20	2272	+			625					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37	c.1746G>T																																																																																					0.468	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		40	449	1	0	1.06644e-07	1	1.12081e-07	40	449					T	13408297	G	T	13408297	2	4	74	1	0	0	0	0	0	0	0	1	968	1074	38	3		3	ARNTL	11	13408297	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8440122	13408297	121598219	111	9296											
PAX6	5080	broad.mit.edu	37	chr11	31823124	31823124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacgcttggtatgttatcGttggtacagaccccctcgga	10	11	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:31823124G>A	ENST00000379132.3	-	5	622	c.342C>T	c.(340-342)aaC>aaT	p.N114N	PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000419022.1_Silent_p.N128N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000241001.8_Silent_p.N114N			P26367	PAX6_HUMAN	paired box 6	114	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTATGTTATCGTTGGTACAGA	0.512									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(382-384)aaC>aaT		paired box 6							82	78	79					11																	31823124		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31823124G>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.342C>T	11.37:g.31823124G>A						PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000379132.3_Silent_p.N114N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N	p.N128N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			7	852	-	Lung SC(675;0.225)		114		R -> C (in FOVHYP; isolated).	Paired.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.384C>T	CCDS31451.1																																																																																				0.512	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		46	371	0	0	0	1	0	46	371					A	31823124	G	A	31823124	2	1	74	1	0	0	0	0	0	0	0	1	11525	1136	40	1		1	PAX6	11	31823124	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	18414827	31823124	103183392	112	9297											
HSD17B12	51144	broad.mit.edu	37	chr11	43852525	43852525	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttgctttctctcttgcaGatgacacaattggtactgcc	8	10	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:43852525G>T	ENST00000278353.4	+	7	620		c.e7-1		RP11-613D13.5_ENST00000524643.1_RNA|RP11-613D13.5_ENST00000499066.2_RNA|RP11-613D13.5_ENST00000530450.1_RNA|HSD17B12_ENST00000529261.1_Splice_Site	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CTCTCTTGCAGATGACACAAT	0.428																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4																			0				endometrium(2)|large_intestine(4)|lung(4)	10						c.e7-1		hydroxysteroid (17-beta) dehydrogenase 12							184	160	168					11																	43852525		2203	4300	6503	SO:0001630	splice_region_variant	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43852525G>T	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.502-1G>T	11.37:g.43852525G>T						RP11-613D13.5_ENST00000499066.2_RNA|HSD17B12_ENST00000529261.1_Splice_Site		NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN			7	620	+								A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Splice_Site	SNP	ENST00000278353.4	37		CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108041	0.77096	.	.	ENSG00000149084	ENST00000531185;ENST00000278353	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B12	43809101	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.590000	0.82653	2.937000	0.99478	0.650000	0.86243	.		0.428	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1		Intron	35	416	1	0	2.95478e-19	1	3.32723e-19	35	416					T	43852525	G	T	43852525	5	4	74	1	0	0	0	0	0	0	1	0	7411	956	33	3	527	3	HSD17B12	11	43852525	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	12029401	43852525	91153991	113	9298											
KBTBD4	55709	broad.mit.edu	37	chr11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-													ccacttgcactgtgcgggccAaaaaccgagagcattcctca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|NDUFS3_ENST00000533507.1_Intron|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174	172	173					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		8	1026						8	1026	---	---	---	---	-	47599139	A	-	47599139	7	5	74	1	0	1	0	1	0	0	0	0	8025	131	5	0	1155	0	KBTBD4	11	47599139	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	3746614	47599139	87407377	114	9299											
OR4A47	403253	broad.mit.edu	37	chr11	48510911	48510911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaactggtctgcactgaCacccatgctattggcctctt	8	12	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:48510911C>A	ENST00000446524.1	+	1	643	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTGCACTGACACCCATGCTA	0.438																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(565-567)gaC>gaA		olfactory receptor, family 4, subfamily A, member 47							155	149	151					11																	48510911		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510911C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.567C>A	11.37:g.48510911C>A	ENSP00000412752:p.Asp189Glu						p.D189E	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	643	+			189						Missense_Mutation	SNP	ENST00000446524.1	37	c.567C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	8.025	0.760507	0.15914	.	.	ENSG00000237388	ENST00000446524	T	0.00227	8.5	4.59	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.222293	0.31415	N	0.007693	T	0.00300	0.0009	M	0.88105	2.93	0.18873	N	0.999985	B	0.23442	0.085	B	0.28784	0.094	T	0.31308	-0.9948	10	0.72032	D	0.01	.	8.1997	0.31417	0.0:0.728:0.0:0.272	.	189	Q6IF82	O4A47_HUMAN	E	189	ENSP00000412752:D189E	ENSP00000412752:D189E	D	+	3	2	OR4A47	48467487	0.229000	0.23729	0.652000	0.29579	0.089000	0.18198	-0.085000	0.11250	0.911000	0.36747	0.205000	0.17691	GAC		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		71	704	1	0	5.26073e-25	1	5.94884e-25	71	704					A	48510911	C	A	48510911	3	1	74	1	0	0	0	0	1	0	0	0	11084	477	17	3	569	3	OR4A47	11	48510911	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	911772	48510911	86495605	115	9300											
SIPA1	6494	broad.mit.edu	37	chr11	65408965	65408965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccctgcactgcccaaCgcggccgtgtccatcctgga	11	18	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:65408965C>T	ENST00000394224.3	+	2	869	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SIPA1_ENST00000527525.1_Silent_p.N191N|SIPA1_ENST00000534313.1_Silent_p.N191N|SIPA1_ENST00000394227.3_Silent_p.N191N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	191					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACTGCCCAACGCGGCCGTGT	0.637																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(571-573)aaC>aaT		signal-induced proliferation-associated 1							38	38	38					11																	65408965		2201	4296	6497	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408965C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.573C>T	11.37:g.65408965C>T						SIPA1_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N|SIPA1_ENST00000534313.1_Silent_p.N191N	p.N191N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	869	+			191					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.573C>T	CCDS8108.1																																																																																				0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		34	387	0	0	0	1	0	34	387					T	65408965	C	T	65408965	2	4	74	1	0	0	0	0	0	0	0	1	14378	535	19	1		1	SIPA1	11	65408965	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	16898054	65408965	69597551	116	9301											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggggggctgtggttcttGtggctgctcccagtgcagct	16	9	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74	97	89					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			11	1550	0	0	0	1	0	11	1550					A	71238615	G	A	71238615	3	1	74	1	0	0	0	0	1	0	0	0	8597	1377	48	2	271	2	KRTAP5-7	11	71238615	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5829650	71238615	63767901	117	9302											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275785	130275785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggctctggcaagggccGgaagctctgcaggcgctcca	15	13	2	1	rs374630396		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:130275785G>A	ENST00000257359.6	-	9	3044	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	780	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCAAGGGCCGGAAGCTCTGC	0.577																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2338-2340)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 8		G	TRP/ARG	0,3994		0,0,1997	98	104	102		2338	2.3	1	11		102	1,8311		0,1,4155	no	missense	ADAMTS8	NM_007037.4	101	0,1,6152	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	780/890	130275785	1,12305	1997	4156	6153	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275785G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2338C>T	11.37:g.130275785G>A	ENSP00000257359:p.Arg780Trp						p.R780W	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3044	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	780			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2338C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942441	0.73672	0.0	1.2E-4	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.52526	0.66	5.34	2.32	0.28847	ADAM-TS Spacer 1 (1);	0.359497	0.30547	N	0.009396	T	0.54935	0.1889	M	0.63428	1.95	0.32698	N	0.513282	D;D	0.76494	0.999;0.986	P;P	0.59595	0.849;0.86	T	0.63919	-0.6528	10	0.87932	D	0	.	5.7895	0.18353	0.2132:0.0:0.652:0.1348	.	780;261	Q9UP79;B3KVX9	ATS8_HUMAN;.	W	178;780;809	ENSP00000257359:R780W	ENSP00000257359:R780W	R	-	1	2	ADAMTS8	129780995	0.257000	0.24022	1.000000	0.80357	0.987000	0.75469	0.545000	0.23268	0.630000	0.30394	0.460000	0.39030	CGG		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		6	854	0	0	0	1	0	6	854					A	130275785	G	A	130275785	3	1	74	1	0	0	0	0	1	0	0	0	272	1115	39	1	335	1	ADAMTS8	11	130275785	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	59037170	130275785	4730731	118	9303											
ERC1	23085	broad.mit.edu	37	chr12	1137347	1137347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaccatgacacttggccGttctgggggacgtctgcctt	12	12	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:1137347G>A	ENST00000397203.2	+	2	684	c.278G>A	c.(277-279)cGt>cAt	p.R93H	ERC1_ENST00000546231.2_Missense_Mutation_p.R93H|ERC1_ENST00000589028.1_Missense_Mutation_p.R93H|ERC1_ENST00000543086.3_Missense_Mutation_p.R93H|ERC1_ENST00000355446.5_Missense_Mutation_p.R93H|ERC1_ENST00000360905.4_Missense_Mutation_p.R93H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	93					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACACTTGGCCGTTCTGGGGGA	0.488																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(277-279)cGt>cAt		ELKS/RAB6-interacting/CAST family member 1							127	121	123					12																	1137347		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137347G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.278G>A	12.37:g.1137347G>A	ENSP00000380386:p.Arg93His					ERC1_ENST00000355446.5_Missense_Mutation_p.R93H|ERC1_ENST00000543086.3_Missense_Mutation_p.R93H|ERC1_ENST00000546231.2_Missense_Mutation_p.R93H|ERC1_ENST00000589028.1_Missense_Mutation_p.R93H|ERC1_ENST00000360905.4_Missense_Mutation_p.R93H	p.R93H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	684	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		93					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.278G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367299	0.82463	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.81	5.81	0.92471	.	0.102401	0.64402	D	0.000003	D	0.91095	0.7197	L	0.34521	1.04	0.58432	D	0.999997	B;B;D	0.76494	0.025;0.067;0.999	B;B;P	0.60789	0.004;0.015;0.879	D	0.91641	0.5327	10	0.72032	D	0.01	-9.8009	20.0621	0.97678	0.0:0.0:1.0:0.0	.	93;93;93	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	H	93	ENSP00000340054:R93H;ENSP00000380386:R93H;ENSP00000438546:R93H;ENSP00000445336:R93H;ENSP00000442976:R93H;ENSP00000442739:R93H;ENSP00000347621:R93H;ENSP00000354158:R93H;ENSP00000410064:R93H	ENSP00000299183:R93H	R	+	2	0	ERC1	1007608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.744000	0.74854	2.750000	0.94351	0.655000	0.94253	CGT		0.488	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		5	682	0	0	0	1	0	5	682					A	1137347	G	A	1137347	3	1	74	1	0	0	0	0	1	0	0	0	5228	1145	40	1	280	1	ERC1	12	1137347	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		1137347	132714548	119	9304											
FGF23	8074	broad.mit.edu	37	chr12	4479899	4479899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtagacgtcgtacccGttttccagcgtctggtgttg	14	9	1	1	rs145147639		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:4479899G>A	ENST00000237837.1	-	3	511	c.366C>T	c.(364-366)aaC>aaT	p.N122N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	122					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGTACCCGTTTTCCAGCG	0.607																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(364-366)aaC>aaT		fibroblast growth factor 23		G		0,4406		0,0,2203	107	105	106		366	0.6	1	12	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGF23	NM_020638.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		122/252	4479899	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479899G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.366C>T	12.37:g.4479899G>A							p.N122N	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	511	-			122					Q4V758	Silent	SNP	ENST00000237837.1	37	c.366C>T	CCDS8526.1																																																																																				0.607	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			78	663	0	0	0	1	0	78	663					A	4479899	G	A	4479899	2	1	74	1	0	0	0	0	0	0	0	1	5877	1136	40	1		1	FGF23	12	4479899	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	3342552	4479899	129371996	120	9305											
SPSB2	84727	broad.mit.edu	37	chr12	6981428	6981428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgcccaggtagcggatgCggacctggcactggccccag	14	14	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:6981428C>T	ENST00000524270.1	-	2	824	c.638G>A	c.(637-639)cGc>cAc	p.R213H	SPSB2_ENST00000519357.1_Missense_Mutation_p.R213H|SPSB2_ENST00000523102.1_Missense_Mutation_p.R213H|LRRC23_ENST00000433346.1_5'Flank|RPL13P5_ENST00000412023.1_RNA	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	213	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GTAGCGGATGCGGACCTGGCA	0.622											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519357.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(637-639)cGc>cAc		splA/ryanodine receptor domain and SOCS box containing 2							95	104	101					12																	6981428		2203	4300	6503	SO:0001583	missense	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981428C>T	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.638G>A	12.37:g.6981428C>T	ENSP00000428338:p.Arg213His		OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_ENST00000523102.1_Missense_Mutation_p.R213H|SPSB2_ENST00000524270.1_Missense_Mutation_p.R213H	p.R213H			Q99619	SPSB2_HUMAN			2	824	-			213			B30.2/SPRY.		B7Z4W1|D3DUT0	Missense_Mutation	SNP	ENST00000524270.1	37	c.638G>A	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045554	0.75846	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.42131	0.98;0.98;0.98	3.69	3.69	0.42338	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SOCS protein, C-terminal (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.175174	0.36303	N	0.002675	T	0.49932	0.1586	L	0.58101	1.795	0.27409	N	0.954618	D;D	0.76494	0.999;0.999	P;P	0.58331	0.837;0.665	T	0.41840	-0.9486	10	0.56958	D	0.05	.	7.215	0.25955	0.0:0.8783:0.0:0.1217	.	213;213	B7Z4W1;Q99619	.;SPSB2_HUMAN	H	213	ENSP00000430872:R213H;ENSP00000428338:R213H;ENSP00000431037:R213H	ENSP00000431037:R213H	R	-	2	0	SPSB2	6851689	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.363000	0.20301	2.052000	0.61016	0.563000	0.77884	CGC		0.622	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		7	1050	0	0	0	1	0	7	1050					T	6981428	C	T	6981428	3	4	74	1	0	0	0	0	1	0	0	0	15165	768	27	1	161	1	SPSB2	12	6981428	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2501529	6981428	126870467	121	9306											
PDE3A	5139	broad.mit.edu	37	chr12	20801641	20801641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtgctatataacgatcGttcagttttggagaatcatc	11	7	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:20801641G>A	ENST00000359062.3	+	13	2625	c.2585G>A	c.(2584-2586)cGt>cAt	p.R862H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	862	Catalytic. {ECO:0000250}.				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)			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)	TATAACGATCGTTCAGTTTTG	0.363																																						ENST00000359062.3																			0				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						c.(2584-2586)cGt>cAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						142	135	137					12																	20801641		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.chr12:20801641G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2585G>A	12.37:g.20801641G>A	ENSP00000351957:p.Arg862His					PDE3A_ENST00000544307.1_3'UTR	p.R862H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2625	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	862			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2585G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017327	0.93404	.	.	ENSG00000172572	ENST00000359062	D	0.81908	-1.55	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097634	0.64402	D	0.000001	D	0.91988	0.7462	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92298	0.5847	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	862	Q14432	PDE3A_HUMAN	H	862	ENSP00000351957:R862H	ENSP00000351957:R862H	R	+	2	0	PDE3A	20692908	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.412000	0.97347	2.722000	0.93159	0.650000	0.86243	CGT		0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			59	536	0	0	0	1	0	59	536					A	20801641	G	A	20801641	3	1	74	1	0	0	0	0	1	0	0	0	11679	1145	40	1	2635	1	PDE3A	12	20801641	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	13820213	20801641	113050254	122	9307											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	116	1	0	0.010729	1	0.0108916	9	116					A	25398284	C	A	25398284	3	1	74	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4596643	25398284	108453611	123	9308											
CNTN1	1272	broad.mit.edu	37	chr12	41422888	41422888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacagacctgatggccaGcatgatggcaagctgtattc	10	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:41422888G>A	ENST00000551295.2	+	23	2964	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	CNTN1_ENST00000348761.2_Silent_p.Q938Q|CNTN1_ENST00000347616.1_Silent_p.Q949Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	949	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGATGGCCAGCATGATGGCA	0.423																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2845-2847)caG>caA		contactin 1							143	133	136					12																	41422888		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422888G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2847G>A	12.37:g.41422888G>A						CNTN1_ENST00000348761.2_Silent_p.Q938Q|CNTN1_ENST00000347616.1_Silent_p.Q949Q	p.Q949Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	2964	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	949			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2847G>A	CCDS8737.1																																																																																				0.423	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		7	601	0	0	0	1	0	7	601					A	41422888	G	A	41422888	2	1	74	1	0	0	0	0	0	0	0	1	3649	962	34	2		2	CNTN1	12	41422888	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16024604	41422888	92429007	124	9309											
ADAMTS20	80070	broad.mit.edu	37	chr12	43847747	43847747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggttgcactttcgattcCgcctccacatgttcttgaac	7	14	1	1	rs150619594		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:43847747C>T	ENST00000389420.3	-	12	1722	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	575	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCGATTCCGCCTCCACAT	0.418																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1723-1725)Gga>Aga		ADAM metallopeptidase with thrombospondin type 1 motif, 20		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	118	93	102		1723	4.8	1	12	dbSNP_134	102	0,8600		0,0,4300	no	missense	ADAMTS20	NM_025003.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	575/1911	43847747	1,13005	2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847747C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1723G>A	12.37:g.43847747C>T	ENSP00000374071:p.Gly575Arg					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1722	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	575			TSP type-1 1.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1723G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774087	0.90108	2.27E-4	0.0	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.83673	-1.75;-1.75	4.77	4.77	0.60923	.	0.279795	0.24949	N	0.034312	D	0.94847	0.8335	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96742	0.9547	10	0.87932	D	0	.	18.6648	0.91485	0.0:1.0:0.0:0.0	.	575	P59510	ATS20_HUMAN	R	575	ENSP00000374071:G575R;ENSP00000448341:G575R	ENSP00000374068:G575R	G	-	1	0	ADAMTS20	42134014	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.196000	0.77805	2.586000	0.87340	0.585000	0.79938	GGA		0.418	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	83	0	0	0	1	0	7	83					T	43847747	C	T	43847747	3	4	74	1	0	0	0	0	1	0	0	0	266	661	23	1	4120	1	ADAMTS20	12	43847747	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2424859	43847747	90004148	125	9310											
COL2A1	1280	broad.mit.edu	37	chr12	48367243	48367243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcctgctcgggccctcCtatgtccatgggtgcaatgt	11	12	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:48367243C>T	ENST00000380518.3	-	54	4575	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1471	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGGCCCTCCTATGTCCATG	0.527																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(4411-4413)Gga>Aga		collagen, type II, alpha 1	Collagenase(DB00048)						155	146	149					12																	48367243		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48367243C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4411G>A	12.37:g.48367243C>T	ENSP00000369889:p.Gly1471Arg					COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R	p.G1471R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			54	4575	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1471			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.4411G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940351	0.73557	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.78126	-1.15;-1.15	4.65	4.65	0.58169	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91112	0.7202	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93677	0.6995	10	0.87932	D	0	.	17.4825	0.87677	0.0:1.0:0.0:0.0	.	1402;1471	P02458-1;P02458	.;CO2A1_HUMAN	R	1471;1402;1402	ENSP00000369889:G1471R;ENSP00000338213:G1402R	ENSP00000338213:G1402R	G	-	1	0	COL2A1	46653510	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.725000	0.84808	2.274000	0.75844	0.561000	0.74099	GGA		0.527	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		63	540	0	0	0	1	0	63	540					T	48367243	C	T	48367243	3	4	74	1	0	0	0	0	1	0	0	0	3696	690	24	2	56	2	COL2A1	12	48367243	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4519496	48367243	85484652	126	9311											
SCN8A	6334	broad.mit.edu	37	chr12	52180350	52180350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaatgccttggtgggcGccatcccctccatcatgaat	11	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52180350G>A	ENST00000354534.6	+	22	4145	c.3967G>A	c.(3967-3969)Gcc>Acc	p.A1323T	SCN8A_ENST00000545061.1_Missense_Mutation_p.A1282T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1323					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)			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)	CTTGGTGGGCGCCATCCCCTC	0.502																																						ENST00000354534.5																			0				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						c.(3967-3969)Gcc>Acc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						80	84	83					12																	52180350		2152	4279	6431	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.chr12:52180350G>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.3967G>A	12.37:g.52180350G>A	ENSP00000346534:p.Ala1323Thr					SCN8A_ENST00000545061.1_Missense_Mutation_p.A1282T	p.A1323T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	22	4145	+			1323					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3967G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361879	0.95877	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.98512	-4.97;-4.97;-4.97	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.99734	1.1013	10	0.87932	D	0	.	19.5591	0.95366	0.0:0.0:1.0:0.0	.	1282;1323	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	T	1323;1282;1282	ENSP00000346534:A1323T;ENSP00000440360:A1282T;ENSP00000347255:A1282T	ENSP00000346534:A1323T	A	+	1	0	SCN8A	50466617	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	GCC		0.502	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	203	0	0	0	1	0	5	203					A	52180350	G	A	52180350	3	1	74	1	0	0	0	0	1	0	0	0	13974	1087	38	1	4049	1	SCN8A	12	52180350	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	3813107	52180350	81671545	127	9312											
KRT86	3892	broad.mit.edu	37	chr12	52695732	52695732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttactgtggtggccgcgCcttcagctgcatctcggcct	11	14	3	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52695732C>A	ENST00000423955.2	+	3	210	c.32C>A	c.(31-33)gCc>gAc	p.A11D	KRT86_ENST00000544024.1_Missense_Mutation_p.A11D|KRT86_ENST00000293525.5_Missense_Mutation_p.A11D			O43790	KRT86_HUMAN	keratin 86	11	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(31-33)gCc>gAc		keratin 86							49	55	53					12																	52695732		2166	4279	6445	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52695732C>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.32C>A	12.37:g.52695732C>A	ENSP00000444533:p.Ala11Asp					KRT86_ENST00000423955.2_Missense_Mutation_p.A11D|KRT86_ENST00000544024.1_Missense_Mutation_p.A11D	p.A11D	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	84	+			11			Head.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.32C>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225010	0.39300	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81330	-1.48;-1.48;-1.48	5.01	5.01	0.66863	.	1.824800	0.03602	U	0.233611	T	0.75064	0.3799	L	0.27053	0.805	0.34929	D	0.749164	B	0.06786	0.001	B	0.04013	0.001	T	0.58411	-0.7641	10	0.56958	D	0.05	.	11.9409	0.52901	0.0:0.8097:0.1903:0.0	.	11	O43790	KRT86_HUMAN	D	11	ENSP00000443169:A11D;ENSP00000444533:A11D;ENSP00000293525:A11D	ENSP00000293525:A11D	A	+	2	0	AC021066.1;KRT86	50981999	0.630000	0.27155	0.988000	0.46212	0.777000	0.43975	0.609000	0.24238	2.320000	0.78422	0.643000	0.83706	GCC		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		12	575	1	0	0.00010058	1	0.000104075	12	575					A	52695732	C	A	52695732	3	1	74	1	0	0	0	0	1	0	0	0	8530	739	26	3	34	3	KRT86	12	52695732	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	515382	52695732	81156163	128	9313											
SLC16A7	9194	broad.mit.edu	37	chr12	60168856	60168856	+	Frame_Shift_Del	DEL	T	T	-													aatgtcattatgttcctaggTttttttgcccccattatatt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:60168856delT	ENST00000261187.4	+	4	944	c.780delT	c.(778-780)ggtfs	p.G260fs	SLC16A7_ENST00000552432.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000547379.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000552024.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000543448.1_Frame_Shift_Del_p.G161fs	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	260					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.G260G(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGTTCCTAGGTTTTTTTGCCC	0.353																																						ENST00000261187.4																			1	Substitution - coding silent(1)	p.G260G(1)	lung(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(778-780)ggfs		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						84	82	83					12																	60168856		2203	4300	6503	SO:0001589	frameshift_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168856delT	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.780delT	12.37:g.60168856delT	ENSP00000261187:p.Gly260fs					SLC16A7_ENST00000552432.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000547379.1_Frame_Shift_Del_p.G260fs|SLC16A7_ENST00000543448.1_Frame_Shift_Del_p.G161fs|SLC16A7_ENST00000552024.1_Frame_Shift_Del_p.G260fs	p.G260fs	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	944	+			260					Q8NEM3|Q9UPB3	Frame_Shift_Del	DEL	ENST00000261187.4	37	c.780delT	CCDS8961.1																																																																																				0.353	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		7	449						7	449	---	---	---	---	-	60168856	T	-	60168856	7	5	74	1	0	1	0	1	0	0	0	0	14463	1712	60	0	790	0	SLC16A7	12	60168856	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	7473124	60168856	73683039	129	9314											
CHST11	50515	broad.mit.edu	37	chr12	105150764	105150764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctgcaccagatgcGgcgggaccaggtgacagaca	14	12	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:105150764G>T	ENST00000303694.5	+	3	681	c.242G>T	c.(241-243)cGg>cTg	p.R81L	CHST11_ENST00000549260.1_Missense_Mutation_p.R76L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	81					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACCAGATGCGGCGGGACCAG	0.567																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(241-243)cGg>cTg		carbohydrate (chondroitin 4) sulfotransferase 11							51	47	48					12																	105150764		2200	4294	6494	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150764G>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.242G>T	12.37:g.105150764G>T	ENSP00000305725:p.Arg81Leu					CHST11_ENST00000549260.1_Missense_Mutation_p.R76L	p.R81L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	681	+			81					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.242G>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816480	0.90790	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.80653	-1.4;-1.39;-1.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89921	0.4059	10	0.87932	D	0	-14.4493	19.4315	0.94772	0.0:0.0:1.0:0.0	.	76;81	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	L	76;81;41	ENSP00000450004:R76L;ENSP00000305725:R81L;ENSP00000449095:R41L	ENSP00000305725:R81L	R	+	2	0	CHST11	103674894	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.430000	0.97488	2.600000	0.87896	0.655000	0.94253	CGG		0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		28	316	1	0	5.45727e-16	1	6.04359e-16	28	316					T	105150764	G	T	105150764	3	4	74	1	0	0	0	0	1	0	0	0	3408	1116	39	3	252	3	CHST11	12	105150764	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	44981908	105150764	28701131	130	9315											
ATP2A2	488	broad.mit.edu	37	chr12	110778544	110778544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgtgaagctgtgccgGcaagcaggcatccgggtcat	13	13	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:110778544G>A	ENST00000539276.2	+	14	1951	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R	ATP2A2_ENST00000308664.6_Silent_p.R614R|ATP2A2_ENST00000395494.2_Silent_p.R587R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCTGTGCCGGCAAGCAGGCA	0.577																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1759-1761)cgG>cgA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							95	93	94					12																	110778544		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778544G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1842G>A	12.37:g.110778544G>A						ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R	p.R587R			P16615	AT2A2_HUMAN			13	2324	+			614			Interacts with HAX1.		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1761G>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211730	0.22289	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	-1.46	0.08800	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38415	-0.9662	4	.	.	.	.	6.5171	0.22254	0.3725:0.3045:0.323:0.0	.	.	.	.	T	505	.	.	A	+	1	0	ATP2A2	109262927	0.478000	0.25917	0.955000	0.39395	0.960000	0.62799	-0.155000	0.10115	-0.590000	0.05866	-0.889000	0.02933	GCA		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		5	556	0	0	0	1	0	5	556					A	110778544	G	A	110778544	2	1	74	1	0	0	0	0	0	0	0	1	1138	1190	42	2		2	ATP2A2	12	110778544	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5627780	110778544	23073351	131	9316											
GOLGA3	2802	broad.mit.edu	37	chr12	133384969	133384969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctccctaggatgtgccGgaagccccaggctgcccacc	10	16	1	0	rs540458037		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:133384969G>A	ENST00000450791.2	-	4	869	c.686C>T	c.(685-687)cCg>cTg	p.P229L	GOLGA3_ENST00000545875.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P229L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.P229L			Q08378	GOGA3_HUMAN	golgin A3	229	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGATGTGCCGGAAGCCCCAG	0.512																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(685-687)cCg>cTg		golgin A3							139	161	153					12																	133384969		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384969G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.686C>T	12.37:g.133384969G>A	ENSP00000410378:p.Pro229Leu					GOLGA3_ENST00000537452.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P229L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P229L	p.P229L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1244	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	229			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.686C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188375	0.01607	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.34	2.73	0.32206	.	0.159337	0.56097	N	0.000025	T	0.07728	0.0194	N	0.01146	-0.985	0.80722	D	1	B;B;B	0.16802	0.004;0.002;0.019	B;B;B	0.15484	0.003;0.003;0.013	T	0.27400	-1.0075	10	0.02654	T	1	.	6.1621	0.20370	0.6192:0.0:0.3808:0.0	.	229;229;229	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	229	ENSP00000204726:P229L;ENSP00000410378:P229L;ENSP00000409303:P229L;ENSP00000442143:P229L;ENSP00000442603:P229L	ENSP00000204726:P229L	P	-	2	0	GOLGA3	131895042	1.000000	0.71417	0.992000	0.48379	0.081000	0.17604	3.241000	0.51376	0.981000	0.38548	-0.482000	0.04802	CCG		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		7	1249	0	0	0	1	0	7	1249					A	133384969	G	A	133384969	3	1	74	1	0	0	0	0	1	0	0	0	6583	1116	39	1	4028	1	GOLGA3	12	133384969	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	22606425	133384969	466926	132	9317											
CDK8	1024	broad.mit.edu	37	chr13	26975609	26975611	+	In_Frame_Del	DEL	CAG	CAG	-													tttaaccaattgagaagaacCagcagcagcagcagggcaat							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:26975609_26975611delCAG	ENST00000381527.3	+	12	1620_1622	c.1117_1119delCAG	c.(1117-1119)cagdel	p.Q377del	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	377	Poly-Gln.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAGAAGAACCAGCAGCAGCAGC	0.463																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(1117-1119)del		cyclin-dependent kinase 8																																				SO:0001651	inframe_deletion	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26975609_26975611delCAG	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1117_1119delCAG	13.37:g.26975618_26975620delCAG	ENSP00000370938:p.Gln377del					CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	p.Q377del	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	12	1620_1622	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	377			Poly-Gln.		Q5VUF3|Q6ISB5	In_Frame_Del	DEL	ENST00000381527.3	37	c.1117_1119delCAG	CCDS9317.1																																																																																				0.463	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			9	260						9	260	---	---	---	---	-	26975611	CAG	-	26975609	7	5	74	1	0	1	0	1	0	0	0	0	3159	595	21	0	1163	0	CDK8	13	26975609	In_Frame_Del	DEL	CAG	TCGA-HZ-A77P-01A-11D-A33T-08		26975609	88194269	133	9318											
FRY	10129	broad.mit.edu	37	chr13	32783787	32783787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctttagccaacaatgagaaAtggagcaacaacctgaggat	10	8	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:32783787A>T	ENST00000380250.3	+	33	4837	c.4341A>T	c.(4339-4341)aaA>aaT	p.K1447N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1447						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAATGAGAAATGGAGCAACA	0.463																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(4339-4341)aaA>aaT		furry homolog (Drosophila)							164	163	163					13																	32783787		1962	4151	6113	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783787A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4341A>T	13.37:g.32783787A>T	ENSP00000369600:p.Lys1447Asn						p.K1447N	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	33	4837	+		Lung SC(185;0.0271)	1447					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4341A>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827518	0.50845	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23754	1.89	5.48	-6.97	0.01616	.	0.048340	0.85682	D	0.000000	T	0.15609	0.0376	N	0.22421	0.69	0.58432	D	0.999997	B	0.33345	0.409	B	0.38755	0.281	T	0.03335	-1.1047	10	0.18710	T	0.47	.	16.3704	0.83355	0.4617:0.0:0.5383:0.0	.	1447	Q5TBA9	FRY_HUMAN	N	1447;284	ENSP00000369600:K1447N	ENSP00000369600:K1447N	K	+	3	2	FRY	31681787	0.173000	0.23056	0.847000	0.33407	0.862000	0.49288	-0.307000	0.08167	-1.244000	0.02516	-0.379000	0.06801	AAA		0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		93	463	0	0	0	1	0	93	463					T	32783787	A	T	32783787	3	4	74	1	0	0	0	0	1	0	0	0	6090	98	4	5	4471	5	FRY	13	32783787	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	5808178	32783787	82386091	134	9319											
CDADC1	81602	broad.mit.edu	37	chr13	49852632	49852632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatacatcatacatgcGgaacagaatgccttgacatt	7	9	2	3	rs140788779		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:49852632G>A	ENST00000251108.6	+	7	1310	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	CDADC1_ENST00000444959.1_Silent_p.A201A	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TCATACATGCGGAACAGAATG	0.353																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1195-1197)gcG>gcA		cytidine and dCMP deaminase domain containing 1		G	,	0,4406		0,0,2203	229	200	210		1197,1197	-9.4	0.2	13	dbSNP_134	210	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CDADC1	NM_001193478.1,NM_030911.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	399/492,399/515	49852632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	81602						hydrolase activity|zinc ion binding	g.chr13:49852632G>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1197G>A	13.37:g.49852632G>A						CDADC1_ENST00000444959.1_Silent_p.A201A	p.A399A	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	7	1310	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	399					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	c.1197G>A	CCDS9415.1																																																																																				0.353	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		5	839	0	0	0	1	0	5	839					A	49852632	G	A	49852632	2	1	74	1	0	0	0	0	0	0	0	1	3062	1103	39	1		1	CDADC1	13	49852632	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	17068845	49852632	65317246	135	9320											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			9	409						9	409	---	---	---	---	-	88329796	CGG	-	88329794	7	5	74	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-HZ-A77P-01A-11D-A33T-08	38477162	88329794	26840084	136	9321			2	17		2	2	15	N	G_CGG	9.451474e-05
SLITRK5	26050	broad.mit.edu	37	chr13	88329808	88329808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtacggcggcggcggcgGcacgggcggccacccacacg	18	16	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:88329808G>A	ENST00000325089.6	+	2	2384	c.2165G>A	c.(2164-2166)gGc>gAc	p.G722D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G481D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCGGCGGCGGCACGGGCGGC	0.652																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2164-2166)gGc>gAc		SLIT and NTRK-like family, member 5							41	49	46					13																	88329808		2201	4296	6497	SO:0001583	missense	26050					integral to membrane		g.chr13:88329808G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2165G>A	13.37:g.88329808G>A	ENSP00000366283:p.Gly722Asp					SLITRK5_ENST00000400028.3_Missense_Mutation_p.G481D	p.G722D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2384	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		722					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2165G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030477	0.19512	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58060	0.36;0.69	4.96	4.96	0.65561	.	0.000000	0.47093	D	0.000247	T	0.41351	0.1155	N	0.14661	0.345	0.28328	N	0.921937	D;B	0.58620	0.983;0.079	P;B	0.47864	0.559;0.021	T	0.31696	-0.9934	9	.	.	.	-10.8324	13.6992	0.62597	0.0:0.0:1.0:0.0	.	481;722	B4DSH5;O94991	.;SLIK5_HUMAN	D	722;481	ENSP00000366283:G722D;ENSP00000442244:G481D	.	G	+	2	0	SLITRK5	87127809	0.899000	0.30636	0.673000	0.29887	0.154000	0.21943	0.683000	0.25349	2.258000	0.74832	0.555000	0.69702	GGC		0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			5	400	0	0	0	1	0	5	400					A	88329808	G	A	88329808	3	1	74	1	0	0	0	0	1	0	0	0	14796	1203	42	2	2167	2	SLITRK5	13	88329808	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	14	88329808	26840070	137	9322			2	17		2	2	15	N	G_CGG	9.451474e-05
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			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)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				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						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	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.chr13:111862267G>A	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.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	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)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		9	1066	0	0	0	1	0	9	1066					A	111862267	G	A	111862267	3	1	74	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	23532459	111862267	3307611	138	9323											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		14	1270						14	1270	---	---	---	---	-	21961062	GCT	-	21961060	7	5	74	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-HZ-A77P-01A-11D-A33T-08		21961060	85388480	139	9324											
ESR2	2100	broad.mit.edu	37	chr14	64727336	64727336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctcggggctcagggcGtccagcagcagctcccgcac	14	16	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:64727336G>A	ENST00000341099.4	-	5	1200	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000557772.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	261	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D261D(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGCTCAGGGCGTCCAGCAGCA	0.682																																						ENST00000557772.1																			2	Substitution - coding silent(2)	p.D261D(2)	endometrium(2)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(781-783)gaC>gaT		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						26	28	27					14																	64727336		2202	4293	6495	SO:0001819	synonymous_variant	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727336G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.783C>T	14.37:g.64727336G>A						ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000341099.4_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000357782.2_Silent_p.D261D	p.D261D	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	782	-			261			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.783C>T	CCDS9762.1																																																																																				0.682	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			76	269	0	0	0	1	0	76	269					A	64727336	G	A	64727336	2	1	74	1	0	0	0	0	0	0	0	1	5275	1136	40	1		1	ESR2	14	64727336	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	42766276	64727336	42622204	140	9325											
SEL1L	6400	broad.mit.edu	37	chr14	81952666	81952666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctgcattgctttgtgCcacttcatagccctgttcag	9	11	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:81952666C>T	ENST00000336735.4	-	17	1881	c.1765G>A	c.(1765-1767)Gca>Aca	p.A589T		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	589	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A589T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTGCTTTGTGCCACTTCATAG	0.428																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.A589T(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1765-1767)Gca>Aca		sel-1 suppressor of lin-12-like (C. elegans)							252	255	254					14																	81952666		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81952666C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1765G>A	14.37:g.81952666C>T	ENSP00000337053:p.Ala589Thr						p.A589T	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	17	1881	-			589			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1765G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646842	0.96714	.	.	ENSG00000071537	ENST00000336735	T	0.62232	0.04	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	589	Q9UBV2	SE1L1_HUMAN	T	589	ENSP00000337053:A589T	ENSP00000337053:A589T	A	-	1	0	SEL1L	81022419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.476000	0.81055	2.813000	0.96785	0.561000	0.74099	GCA		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		7	1313	0	0	0	1	0	7	1313					T	81952666	C	T	81952666	3	4	74	1	0	0	0	0	1	0	0	0	14060	739	26	2	639	2	SEL1L	14	81952666	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	17225330	81952666	25396874	141	9326											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		12	367						12	367	---	---	---	---	-	40328599	TGC	-	40328597	7	5	74	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-HZ-A77P-01A-11D-A33T-08		40328597	62202795	142	9327											
GCHFR	2644	broad.mit.edu	37	chr15	41059453	41059453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtcgatgaccctccccGcatagtcctggacaagctgg	10	15	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:41059453G>A	ENST00000260447.4	+	3	322	c.161G>A	c.(160-162)cGc>cAc	p.R54H	GCHFR_ENST00000559445.1_Missense_Mutation_p.R43H|GCHFR_ENST00000558467.1_Missense_Mutation_p.R37H|DNAJC17_ENST00000558727.1_5'Flank|GCHFR_ENST00000559932.1_Missense_Mutation_p.R37H|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558670.1_3'UTR	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	54					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCTCCCCGCATAGTCCTG	0.587																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(109-111)cGc>cAc		GTP cyclohydrolase I feedback regulator							112	104	107					15																	41059453		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059453G>A	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"GTP cyclohydrolase I feedback regulatory protein"			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.161G>A	15.37:g.41059453G>A	ENSP00000260447:p.Arg54His					GCHFR_ENST00000260447.4_Missense_Mutation_p.R54H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.R43H|GCHFR_ENST00000559932.1_Missense_Mutation_p.R37H	p.R37H			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	332	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	54					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.110G>A	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422062	0.96111	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.83076	-0.0140	8	0.54805	T	0.06	-17.0578	19.642	0.95762	0.0:0.0:1.0:0.0	.	43;54	B7ZLM8;P30047	.;GFRP_HUMAN	H	54	.	ENSP00000260447:R54H	R	+	2	0	GCHFR	38846745	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.245000	0.95431	2.815000	0.96918	0.561000	0.74099	CGC		0.587	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		6	716	0	0	0	1	0	6	716					A	41059453	G	A	41059453	3	1	74	1	0	0	0	0	1	0	0	0	6320	1087	38	1	171	1	GCHFR	15	41059453	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	730856	41059453	61471939	143	9328											
VPS13C	54832	broad.mit.edu	37	chr15	62174905	62174905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctacgaatagggaggcGcatttccattggatctttat	12	7	1	0	rs372160182		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:62174905G>A	ENST00000261517.5	-	69	9587	c.9514C>T	c.(9514-9516)Cgc>Tgc	p.R3172C	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3129C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3172C|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3129C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAGGGAGGCGCATTTCCATT	0.363																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9514-9516)Cgc>Tgc		vacuolar protein sorting 13 homolog C (S. cerevisiae)		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	102	102		9514,9385,9385,9514	5.3	1	15		102	0,8600		0,0,4300	no	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	3172/3629,3129/3711,3129/3586,3172/3754	62174905	1,13005	2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62174905G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9514C>T	15.37:g.62174905G>A	ENSP00000261517:p.Arg3172Cys					VPS13C_ENST00000249837.3_Missense_Mutation_p.R3129C|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3129C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3172C	p.R3172C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			69	9587	-			3172						Missense_Mutation	SNP	ENST00000261517.5	37	c.9514C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507406	0.85282	2.27E-4	0.0	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47528	0.84;0.84;1.02	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.962;0.975;0.992;0.982	T	0.67635	-0.5620	10	0.38643	T	0.18	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	3129;3172;3129;3172	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	3129;3172;3172;3172	ENSP00000249837:R3129C;ENSP00000261517:R3172C;ENSP00000379233:R3172C	ENSP00000249837:R3129C	R	-	1	0	VPS13C	59962197	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.211000	0.77933	2.665000	0.90641	0.585000	0.79938	CGC		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	437	0	0	0	1	0	5	437					A	62174905	G	A	62174905	3	1	74	1	0	0	0	0	1	0	0	0	17245	1087	38	1	1843	1	VPS13C	15	62174905	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	21115452	62174905	40356487	144	9329											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		9	694	0	0	0	1	0	9	694					C	72954797	T	C	72954797	3	2	74	1	0	0	0	0	1	0	0	0	6587	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	10779892	72954797	29576595	145	9330											
SRRM2	23524	broad.mit.edu	37	chr16	2817587	2817587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctcctgtgaatattgCcggctccagaaccgccgcag	10	15	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:2817587C>T	ENST00000301740.8	+	11	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2353	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGAATATTGCCGGCTCCAGA	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7057-7059)gCc>gTc		serine/arginine repetitive matrix 2							97	102	101					16																	2817587		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817587C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7058C>T	16.37:g.2817587C>T	ENSP00000301740:p.Ala2353Val					SRRM2_ENST00000574593.1_3'UTR	p.A2353V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7607	+			2353			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7058C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187072	0.38609	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78595	-1.19	5.77	4.81	0.61882	.	0.092240	0.47852	D	0.000218	T	0.67739	0.2925	N	0.17082	0.46	0.32131	N	0.586702	P	0.38395	0.629	B	0.42282	0.382	T	0.75202	-0.3401	10	0.52906	T	0.07	-6.4687	12.9496	0.58391	0.0:0.8379:0.1621:0.0	.	2353	Q9UQ35	SRRM2_HUMAN	V	2353;1605	ENSP00000301740:A2353V	ENSP00000301740:A2353V	A	+	2	0	SRRM2	2757588	0.960000	0.32886	1.000000	0.80357	0.911000	0.54048	1.106000	0.31098	1.424000	0.47217	0.655000	0.94253	GCC		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			8	1115	0	0	0	1	0	8	1115					T	2817587	C	T	2817587	3	4	74	1	0	0	0	0	1	0	0	0	15221	739	26	2	7096	2	SRRM2	16	2817587	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		2817587	87537166	146	9331											
PRKCB	5579	broad.mit.edu	37	chr16	24202517	24202517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgggagaaacttgaacGcaaagagatccagccccctt	10	10	0	4	rs563116744		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:24202517G>A	ENST00000321728.7	+	16	2004	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R610H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	610	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R610H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAACTTGAACGCAAAGAGATC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18802	0.0		0.0	False		,,,				2504	0.001					ENST00000303531.7																			2	Substitution - Missense(2)	p.R610H(2)	large_intestine(2)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1828-1830)cGc>cAc		protein kinase C, beta	Vitamin E(DB00163)						120	122	122					16																	24202517		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202517G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1829G>A	16.37:g.24202517G>A	ENSP00000318315:p.Arg610His					PRKCB_ENST00000321728.7_Missense_Mutation_p.R610H	p.R610H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			16	1981	+			610			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1829G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536078	0.64972	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.54071	0.59;0.59	5.79	5.79	0.91817	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.124523	0.56097	D	0.000028	T	0.42787	0.1218	L	0.31207	0.915	0.42943	D	0.994353	B;B	0.21225	0.053;0.031	B;B	0.14578	0.011;0.005	T	0.24154	-1.0168	10	0.18710	T	0.47	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	610;610	P05771-2;P05771	.;KPCB_HUMAN	H	610	ENSP00000318315:R610H;ENSP00000305355:R610H	ENSP00000305355:R610H	R	+	2	0	PRKCB	24110018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.857000	0.48349	2.744000	0.94065	0.650000	0.86243	CGC		0.478	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	637	0	0	0	1	0	5	637					A	24202517	G	A	24202517	3	1	74	1	0	0	0	0	1	0	0	0	12555	1087	38	1	1891	1	PRKCB	16	24202517	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	21384930	24202517	66152236	147	9332											
ZNF423	23090	broad.mit.edu	37	chr16	49670484	49670484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttcttaagcagcatgCcctgcaggtcagcaggctca	12	12	3	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:49670484C>T	ENST00000561648.1	-	4	2632	c.2579G>A	c.(2578-2580)gGc>gAc	p.G860D	ZNF423_ENST00000535559.1_Missense_Mutation_p.G743D|ZNF423_ENST00000262383.2_Missense_Mutation_p.G860D|ZNF423_ENST00000563137.2_Missense_Mutation_p.G800D|ZNF423_ENST00000562871.1_Missense_Mutation_p.G800D|ZNF423_ENST00000562520.1_Missense_Mutation_p.G800D|ZNF423_ENST00000567169.1_Missense_Mutation_p.G743D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	860					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGCAGCATGCCCTGCAGGTC	0.612																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2578-2580)gGc>gAc		zinc finger protein 423							76	68	71					16																	49670484		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670484C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2579G>A	16.37:g.49670484C>T	ENSP00000455426:p.Gly860Asp					ZNF423_ENST00000535559.1_Missense_Mutation_p.G743D|ZNF423_ENST00000562520.1_Missense_Mutation_p.G800D|ZNF423_ENST00000262383.2_Missense_Mutation_p.G860D|ZNF423_ENST00000562871.1_Missense_Mutation_p.G800D|ZNF423_ENST00000563137.2_Missense_Mutation_p.G800D|ZNF423_ENST00000567169.1_Missense_Mutation_p.G743D	p.G860D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2632	-		all_cancers(37;0.0155)	860					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2579G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232426	0.22626	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08458	3.09;3.12	4.81	3.62	0.41486	.	0.293109	0.41500	D	0.000870	T	0.05777	0.0151	N	0.24115	0.695	0.31521	N	0.662419	B	0.18166	0.026	B	0.25405	0.06	T	0.12243	-1.0555	9	.	.	.	-35.8422	8.8114	0.34969	0.0:0.8147:0.0:0.1853	.	860	Q2M1K9	ZN423_HUMAN	D	860;743	ENSP00000262383:G860D;ENSP00000442321:G743D	.	G	-	2	0	ZNF423	48227985	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	0.815000	0.27253	2.234000	0.73211	0.561000	0.74099	GGC		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	361	0	0	0	1	0	5	361					T	49670484	C	T	49670484	3	4	74	1	0	0	0	0	1	0	0	0	17951	739	26	2	1295	2	ZNF423	16	49670484	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	25467967	49670484	40684269	148	9333											
SALL1	6299	broad.mit.edu	37	chr16	51175413	51175415	+	In_Frame_Del	DEL	CTG	CTG	-													atcaattgcagctggtggatCtgctgctgctgcagagctag					rs527415423		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:51175413_51175415delCTG	ENST00000251020.4	-	2	751_753	c.718_720delCAG	c.(718-720)cagdel	p.Q240del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.Q143del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	240	Poly-Gln.				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)			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)			GCTGGTGGATCTGCTGCTGCTGC	0.562																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(427-429)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	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.chr16:51175413_51175415delCTG	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.718_720delCAG	16.37:g.51175422_51175424delCTG	ENSP00000251020:p.Gln240del					SALL1_ENST00000251020.4_In_Frame_Del_p.Q240del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.Q143del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	858_860	-		all_cancers(37;0.0322)	240					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.427_429delCAG	CCDS10747.1																																																																																				0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	660						7	660	---	---	---	---	-	51175415	CTG	-	51175413	7	5	74	1	0	1	0	1	0	0	0	0	13860	912	32	0	3262	0	SALL1	16	51175413	In_Frame_Del	DEL	CTG	TCGA-HZ-A77P-01A-11D-A33T-08	1504929	51175413	39179340	149	9334											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	588						9	588	---	---	---	---	-	57731887	GGA	-	57731885	7	5	74	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-HZ-A77P-01A-11D-A33T-08	6556472	57731885	32622868	150	9335											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139	137	138					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			7	773						7	773	---	---	---	---	-	67963919	T	-	67963919	7	5	74	1	0	1	0	1	0	0	0	0	4039	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	10232034	67963919	22390834	151	9336											
SLC7A6	84138	broad.mit.edu	37	chr16	68330539	68330539	+	IGR	DEL	T	T	-													ctctatttcagctgagcgtgTttttccccatcgtgttctgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:68330539delT	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.F428fs|SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		GCTGAGCGTGTTTTTCCCCAT	0.522																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(1279-1281)ttfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							263	230	241					16																	68330539		2198	4300	6498	SO:0001628	intergenic_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68330539delT		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		16.37:g.68330539delT						SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	11	1548	+		Ovarian(137;0.0563)	428					Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	ENST00000263997.6	37	c.1279delT	CCDS10865.1																																																																																				0.522	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		7	1170						7	1170	---	---	---	---	-	68330539	T	-	68330539	6	5	74	0	1	1	0	1	0	0	0	0	14751	1725	60	0		0	SLC7A6	16	68330539	IGR	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	366620	68330539	22024214	152	9337											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	319						7	319	---	---	---	---	-	69726422	CAG	-	69726420	7	5	74	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-HZ-A77P-01A-11D-A33T-08	1395881	69726420	20628333	153	9338											
WWP2	11060	broad.mit.edu	37	chr16	69951707	69951707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaccgcggagtacgtgcGcaactatgagcagtggcagt	14	11	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69951707G>A	ENST00000359154.2	+	10	1201	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R251H|WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000448661.1_Missense_Mutation_p.R367H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	367					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|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 potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGTACGTGCGCAACTATGAG	0.592																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1099-1101)cGc>cAc		WW domain containing E3 ubiquitin protein ligase 2							63	58	60					16																	69951707		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69951707G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1100G>A	16.37:g.69951707G>A	ENSP00000352069:p.Arg367His					WWP2_ENST00000448661.1_Missense_Mutation_p.R367H|WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R251H	p.R367H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			10	1201	+			367					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1100G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217011	0.95104	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.34072	1.4;1.4;1.4;1.38	5.72	4.77	0.60923	.	0.102760	0.64402	D	0.000006	T	0.55641	0.1933	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	T	0.59177	-0.7503	9	.	.	.	.	14.8283	0.70130	0.0689:0.0:0.9311:0.0	.	367	O00308	WWP2_HUMAN	H	367;367;367;254;251	ENSP00000352069:R367H;ENSP00000396871:R367H;ENSP00000348283:R367H;ENSP00000445616:R251H	.	R	+	2	0	WWP2	68509208	1.000000	0.71417	0.931000	0.37212	0.958000	0.62258	9.869000	0.99810	1.417000	0.47077	0.655000	0.94253	CGC		0.592	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		5	306	0	0	0	1	0	5	306					A	69951707	G	A	69951707	3	1	74	1	0	0	0	0	1	0	0	0	17470	1087	38	1	1138	1	WWP2	16	69951707	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	225287	69951707	20403046	154	9339											
SF3B3	23450	broad.mit.edu	37	chr16	70569300	70569300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgaccagccagatatcCgctgtccaattcccaggagg	11	12	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:70569300C>A	ENST00000302516.5	+	6	1013	c.802C>A	c.(802-804)Cgc>Agc	p.R268S	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	268					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.R268C(1)|p.R268S(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCCAGATATCCGCTGTCCAAT	0.413																																						ENST00000302516.5																			2	Substitution - Missense(2)	p.R268C(1)|p.R268S(1)	lung(1)|endometrium(1)	breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(802-804)Cgc>Agc		splicing factor 3b, subunit 3, 130kDa							130	135	133					16																	70569300		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569300C>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.802C>A	16.37:g.70569300C>A	ENSP00000305790:p.Arg268Ser						p.R268S	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			6	1013	+		Ovarian(137;0.0694)	268					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.802C>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517308	0.64634	.	.	ENSG00000189091	ENST00000302516	T	0.40756	1.02	4.84	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.69523	2.12	0.80722	D	1	P	0.46859	0.885	P	0.54706	0.759	T	0.52253	-0.8600	10	0.18276	T	0.48	.	15.9059	0.79430	0.1767:0.8233:0.0:0.0	.	268	Q15393	SF3B3_HUMAN	S	268	ENSP00000305790:R268S	ENSP00000305790:R268S	R	+	1	0	SF3B3	69126801	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.092000	0.50207	2.236000	0.73375	0.484000	0.47621	CGC		0.413	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		5	812	1	0	0.014758	1	0.0149251	5	812					A	70569300	C	A	70569300	3	1	74	1	0	0	0	0	1	0	0	0	14202	652	23	3	820	3	SF3B3	16	70569300	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	617593	70569300	19785453	155	9340											
C16orf46	123775	broad.mit.edu	37	chr16	81095682	81095682	+	Frame_Shift_Del	DEL	T	T	-													caccttcccctaccctcgccTtttttggtatcttcctcggc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:81095682delT	ENST00000299578.5	-	4	507	c.272delA	c.(271-273)aagfs	p.K91fs	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000378611.4_Frame_Shift_Del_p.K91fs	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	91						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TACCCTCGCCTTTTTTGGTAT	0.592																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(271-273)agfs		chromosome 16 open reading frame 46							90	87	88					16																	81095682		2202	4300	6502	SO:0001589	frameshift_variant	123775							g.chr16:81095682delT	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.272delA	16.37:g.81095682delT	ENSP00000299578:p.Lys91fs					C16orf46_ENST00000299578.5_Frame_Shift_Del_p.K91fs|C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA	p.K91fs	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	387	-			91					Q96MA7	Frame_Shift_Del	DEL	ENST00000299578.5	37	c.272delA	CCDS10932.1																																																																																				0.592	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		7	1055						7	1055	---	---	---	---	-	81095682	T	-	81095682	7	5	74	1	0	1	0	1	0	0	0	0	1820	1609	56	0	947	0	C16orf46	16	81095682	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	10526382	81095682	9259071	156	9341											
PRPF8	10594	broad.mit.edu	37	chr17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcatgtttcatgaggcGcatgcgggcatctcggggcc	13	11	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3421-3423)Cgc>Tgc		pre-mRNA processing factor 8							156	145	149					17																	1577065		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577065G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3421C>T	17.37:g.1577065G>A	ENSP00000460348:p.Arg1141Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C	p.R1141C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3686	-			1141					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3421C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993235	0.74703	.	.	ENSG00000174231	ENST00000304992	D	0.84800	-1.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-7.3509	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1141	Q6P2Q9	PRP8_HUMAN	C	1141	ENSP00000304350:R1141C	ENSP00000304350:R1141C	R	-	1	0	PRPF8	1523815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.833000	0.97629	0.585000	0.79938	CGC		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	589	0	0	0	1	0	5	589					A	1577065	G	A	1577065	3	1	74	1	0	0	0	0	1	0	0	0	12622	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		1577065	79618145	157	9342											
OR3A1	4994	broad.mit.edu	37	chr17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggactgtctgactcatgCgggtgctgtaggtgaggggc	17	8	3	2	rs143631940		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:3195464C>T	ENST00000323404.1	-	1	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		21033	0.001		0.0	False		,,,				2504	0.0				GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(412-414)cGc>cAc		olfactory receptor, family 3, subfamily A, member 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	111	113		413	0.9	0.9	17	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR3A1	NM_002550.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	138/316	3195464	2,13004	2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195464C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.413G>A	17.37:g.3195464C>T	ENSP00000313803:p.Arg138His					RP11-64J4.2_ENST00000573491.1_RNA	p.R138H	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	412	-			138					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.413G>A	CCDS11023.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.393	0.840240	0.16891	2.27E-4	1.16E-4	ENSG00000180090	ENST00000323404	T	0.00397	7.57	5.31	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.36962	-0.9726	10	0.30854	T	0.27	-13.4225	3.982	0.09499	0.2805:0.4667:0.0:0.2528	.	138	P47881	OR3A1_HUMAN	H	138	ENSP00000313803:R138H	ENSP00000313803:R138H	R	-	2	0	OR3A1	3142214	0.000000	0.05858	0.923000	0.36655	0.826000	0.46750	-0.014000	0.12656	0.785000	0.33685	0.650000	0.86243	CGC		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			5	614	0	0	0	1	0	5	614					T	3195464	C	T	3195464	3	4	74	1	0	0	0	0	1	0	0	0	11079	768	27	1	538	1	OR3A1	17	3195464	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	1618399	3195464	77999746	158	9343											
ZZEF1	23140	broad.mit.edu	37	chr17	3917678	3917678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacttctgctgagacccGctgaagctgtgtcggtcttg	11	12	2	2	rs140208035		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:3917678G>A	ENST00000381638.2	-	50	8401	c.8277C>T	c.(8275-8277)agC>agT	p.S2759S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2759							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGAGACCCGCTGAAGCTGT	0.453																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8275-8277)agC>agT		zinc finger, ZZ-type with EF-hand domain 1		G		1,4405	2.1+/-5.4	0,1,2202	128	121	124		8277	-6.8	0.9	17	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2759/2962	3917678	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3917678G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8277C>T	17.37:g.3917678G>A							p.S2759S	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			50	8401	-			2759					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.8277C>T	CCDS11043.1																																																																																				0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	634	0	0	0	1	0	6	634					A	3917678	G	A	3917678	2	1	74	1	0	0	0	0	0	0	0	1	18308	1078	38	1		1	ZZEF1	17	3917678	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	722214	3917678	77277532	159	9344											
MYBBP1A	10514	broad.mit.edu	37	chr17	4442801	4442801	+	Frame_Shift_Del	DEL	T	T	-													tgaccaaagacagccttgccTttttccgtgccagcgcggac					rs78578064	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:4442801delT	ENST00000254718.4	-	26	4202	c.3896delA	c.(3895-3897)aagfs	p.K1299fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1299	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGCCTTGCCTTTTTCCGTGC	0.582																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3895-3897)agfs		MYB binding protein (P160) 1a							166	165	165					17																	4442801		2203	4300	6503	SO:0001589	frameshift_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4442801delT	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3896delA	17.37:g.4442801delT	ENSP00000254718:p.Lys1299fs					MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs	p.K1299fs			Q9BQG0	MBB1A_HUMAN			26	4202	-			1299			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Del	DEL	ENST00000254718.4	37	c.3896delA	CCDS11046.1																																																																																				0.582	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		7	1299						7	1299	---	---	---	---	-	4442801	T	-	4442801	7	5	74	1	0	1	0	1	0	0	0	0	10049	1609	56	0	134	0	MYBBP1A	17	4442801	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	525123	4442801	76752409	160	9345											
POLR2A	5430	broad.mit.edu	37	chr17	7400144	7400144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggcctagagttgtatgCggaatggaagcacgttaatg	13	6	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7400144C>T	ENST00000322644.6	+	5	998	c.599C>T	c.(598-600)gCg>gTg	p.A200V	POLR2A_ENST00000572844.1_Missense_Mutation_p.A200V	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	200					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGTTGTATGCGGAATGGAAG	0.562																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(598-600)gCg>gTg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							95	85	89					17																	7400144		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7400144C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.599C>T	17.37:g.7400144C>T	ENSP00000314949:p.Ala200Val					POLR2A_ENST00000572844.1_Missense_Mutation_p.A200V	p.A200V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			5	998	+		Prostate(122;0.173)	200					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.599C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097243	0.76870	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.66995	-0.24	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.52126	1.63	0.80722	D	1	P;D	0.67145	0.659;0.996	B;P	0.59487	0.216;0.858	T	0.78206	-0.2294	10	0.87932	D	0	-9.1798	18.1461	0.89655	0.0:1.0:0.0:0.0	.	200;200	P24928;Q6NX41	RPB1_HUMAN;.	V	156;200	ENSP00000314949:A200V	ENSP00000314949:A200V	A	+	2	0	SLC35G6	7340868	1.000000	0.71417	0.982000	0.44146	0.557000	0.35523	7.158000	0.77470	2.584000	0.87258	0.563000	0.77884	GCG		0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	271	0	0	0	1	0	4	271					T	7400144	C	T	7400144	3	4	74	1	0	0	0	0	1	0	0	0	12256	768	27	1	617	1	POLR2A	17	7400144	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2957343	7400144	73795066	161	9346											
TP53	7157	broad.mit.edu	37	chr17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A													ggtgccgggcgggggtgtggINSaatcaacccacagctgcaca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7578484_7578485insA	ENST00000269305.4	-	5	634_635	c.445_446insT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs	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	149	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(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)	CGGGGGTGTGGAATCAACCCAC	0.604		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)	ENST00000420246.2		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"		35	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)	upper_aerodigestive_tract(5)|breast(5)|lung(4)|bone(4)|central_nervous_system(3)|skin(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|thyroid(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|oesophagus(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						c.(445-447)cacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578484_7578485insA	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.446dupT	17.37:g.7578486_7578486dupA	ENSP00000269305:p.Ser149fs	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_ENST00000269305.4_Frame_Shift_Ins_p.H149fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H149fs	p.H149fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	577_578	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	149		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.445_446insT	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	310						31	310	---	---	---	---	A	7578485	-	A	7578484	7	5	74	1	0	1	1	0	0	0	0	0	16434	1174	41	0	852	0	TP53	17	7578484	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	178340	7578484	73616726	162	9347											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	340						7	340	---	---	---	---	-	8397097	CCT	-	8397095	7	5	74	1	0	1	0	1	0	0	0	0	10071	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-HZ-A77P-01A-11D-A33T-08	818611	8397095	72798115	163	9348											
UBB	7314	broad.mit.edu	37	chr17	16285438	16285438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccctgcacctggtcctgcgtCtgagaggtggtatgcagatc	13	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:16285438C>G	ENST00000395837.1	+	2	398	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000302182.3_Missense_Mutation_p.L73V	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	73	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGTCCTGCGTCTGAGAGGTGG	0.547																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(217-219)Ctg>Gtg		ubiquitin B							64	64	64					17																	16285438		2203	4297	6500	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285438C>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.217C>G	17.37:g.16285438C>G	ENSP00000379178:p.Leu73Val					UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000395837.1_Missense_Mutation_p.L73V	p.L73V	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	609	+			73			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.217C>G	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999368	0.35226	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.42420	U	0.000711	T	0.79347	0.4430	M	0.88181	2.935	0.80722	D	1	B	0.10296	0.003	B	0.20955	0.032	T	0.81180	-0.1050	10	0.87932	D	0	.	15.641	0.77001	0.0:1.0:0.0:0.0	.	73	P0CG47	UBB_HUMAN	V	73	ENSP00000304697:L73V;ENSP00000437475:L73V;ENSP00000379180:L73V;ENSP00000379178:L73V	ENSP00000304697:L73V	L	+	1	2	UBB	16226163	1.000000	0.71417	0.926000	0.36857	0.847000	0.48162	4.164000	0.58190	1.989000	0.58080	0.644000	0.83932	CTG		0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		54	391	0	0	0	1	0	54	391					G	16285438	C	G	16285438	3	3	74	1	0	0	0	0	1	0	0	0	16895	912	32	5	219	5	UBB	17	16285438	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	7888343	16285438	64909772	164	9349											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	387						8	387	---	---	---	---	-	34071996	TCC	-	34071994	7	5	74	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-HZ-A77P-01A-11D-A33T-08	17786556	34071994	47123216	165	9350											
KCNH4	23415	broad.mit.edu	37	chr17	40332934	40332934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccaggaaggtgttttgCggggccagcaaccccttcat	13	11	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:40332934C>T	ENST00000264661.3	-	1	362	c.30G>A	c.(28-30)ccG>ccA	p.P10P	KCNH4_ENST00000607371.1_Silent_p.P10P	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	10					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGTGTTTTGCGGGGCCAGCA	0.692																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(28-30)ccG>ccA		potassium voltage-gated channel, subfamily H (eag-related), member 4							99	93	95					17																	40332934		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40332934C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.30G>A	17.37:g.40332934C>T						KCNH4_ENST00000607371.1_Silent_p.P10P	p.P10P	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	1	362	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	10						Silent	SNP	ENST00000264661.3	37	c.30G>A	CCDS11420.1																																																																																				0.692	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		6	809	0	0	0	1	0	6	809					T	40332934	C	T	40332934	2	4	74	1	0	0	0	0	0	0	0	1	8064	755	27	1		1	KCNH4	17	40332934	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6260940	40332934	40862276	166	9351											
DDX42	11325	broad.mit.edu	37	chr17	61886234	61886234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatcttcgatcagtggccGtatatggaggagggagtatg	14	5	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:61886234G>A	ENST00000578681.1	+	11	1679	c.1078G>A	c.(1078-1080)Gta>Ata	p.V360I	DDX42_ENST00000389924.2_Missense_Mutation_p.V360I|DDX42_ENST00000583590.1_Missense_Mutation_p.V360I|DDX42_ENST00000359353.5_Missense_Mutation_p.V241I|DDX42_ENST00000457800.2_Missense_Mutation_p.V360I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	360	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATCAGTGGCCGTATATGGAGG	0.438																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1078-1080)Gta>Ata		DEAD (Asp-Glu-Ala-Asp) box helicase 42							172	158	163					17																	61886234		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61886234G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1078G>A	17.37:g.61886234G>A	ENSP00000464050:p.Val360Ile					DDX42_ENST00000583590.1_Missense_Mutation_p.V360I|DDX42_ENST00000457800.2_Missense_Mutation_p.V360I|DDX42_ENST00000389924.2_Missense_Mutation_p.V360I|DDX42_ENST00000359353.5_Missense_Mutation_p.V241I	p.V360I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			11	1679	+			360			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1078G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459580	0.84317	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.12672	2.66;2.66	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	N	0.13198	0.31	0.80722	D	1	P	0.39116	0.66	B	0.35510	0.204	T	0.19614	-1.0300	10	0.35671	T	0.21	-11.361	18.8992	0.92435	0.0:0.0:1.0:0.0	.	360	Q86XP3	DDX42_HUMAN	I	360;360;96	ENSP00000374574:V360I;ENSP00000390121:V360I	ENSP00000352308:V96I	V	+	1	0	DDX42	59239966	1.000000	0.71417	0.897000	0.35233	0.984000	0.73092	9.869000	0.99810	2.728000	0.93425	0.585000	0.79938	GTA		0.438	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		5	587	0	0	0	1	0	5	587					A	61886234	G	A	61886234	3	1	74	1	0	0	0	0	1	0	0	0	4373	1145	40	1	1112	1	DDX42	17	61886234	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	21553300	61886234	19308976	167	9352											
C17orf28	283987	broad.mit.edu	37	chr17	72958062	72958062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcggagaagcatgtcaGcagcagtttcagcagctcca	12	12	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:72958062G>A	ENST00000425042.2	-	6	711	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	212					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AAGCATGTCAGCAGCAGTTTC	0.597											OREG0024723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425042.2																			0											c.(634-636)Ctg>Ttg		HID1 domain containing							64	59	60					17																	72958062		2203	4300	6503	SO:0001819	synonymous_variant	283987							g.chr17:72958062G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.634C>T	17.37:g.72958062G>A			OREG0024723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141		p.L212L	NM_030630.2	NP_085133.1					6	711	-								Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.634C>T	CCDS32726.1																																																																																				0.597	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		4	145	0	0	0	1	0	4	145					A	72958062	G	A	72958062	2	1	74	1	0	0	0	0	0	0	0	1	1859	962	34	2		2	C17orf28	17	72958062	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	11071828	72958062	8237148	168	9353											
LRRC45	201255	broad.mit.edu	37	chr17	79983019	79983019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggaggagctggcccTagccctgaagggcaacacca	16	13	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:79983019T>G	ENST00000306688.3	+	4	839	c.497T>G	c.(496-498)cTa>cGa	p.L166R	STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000584347.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	166						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGCTGGCCCTAGCCCTGAAG	0.687																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(496-498)cTa>cGa		leucine rich repeat containing 45							20	24	23					17																	79983019		2182	4288	6470	SO:0001583	missense	201255					centrosome		g.chr17:79983019T>G	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.497T>G	17.37:g.79983019T>G	ENSP00000306760:p.Leu166Arg					LRRC45_ENST00000583383.1_3'UTR	p.L166R	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	839	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		166						Missense_Mutation	SNP	ENST00000306688.3	37	c.497T>G	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085981	0.55861	.	.	ENSG00000169683	ENST00000306688	T	0.51817	0.69	3.85	2.75	0.32379	.	0.387055	0.24833	N	0.035239	T	0.36248	0.0960	N	0.04373	-0.215	0.36634	D	0.876484	D	0.53462	0.96	P	0.59424	0.857	T	0.32107	-0.9919	9	.	.	.	-12.8284	8.6719	0.34156	0.0:0.0939:0.0:0.9061	.	166	Q96CN5	LRC45_HUMAN	R	166	ENSP00000306760:L166R	.	L	+	2	0	LRRC45	77576308	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	3.635000	0.54309	1.530000	0.49136	0.460000	0.39030	CTA		0.687	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		13	106	0	0	0	1	0	13	106					G	79983019	T	G	79983019	3	3	74	1	0	0	0	0	1	0	0	0	9040	1522	53	4	511	4	LRRC45	17	79983019	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	7024957	79983019	1212191	169	9354											
EPB41L3	23136	broad.mit.edu	37	chr18	5419762	5419762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcttcccccttcctcCgtttgtcctcttcctcgtcc	4	19	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:5419762C>T	ENST00000341928.2	-	12	1794	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccccttcctccgtttgtcctc	0.552																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1453-1455)cGg>cAg		erythrocyte membrane protein band 4.1-like 3							198	128	152					18																	5419762		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419762C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1454G>A	18.37:g.5419762C>T	ENSP00000343158:p.Arg485Gln					EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000542652.2_5'UTR	p.R485Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			12	1794	-			485			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1454G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703468	0.30232	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;D;T;D	0.82255	-1.37;-1.56;-1.37;-1.59	5.61	4.73	0.59995	.	1.452490	0.04085	N	0.310269	T	0.76723	0.4027	L	0.49126	1.545	0.30694	N	0.751003	P;D;B;P;P	0.54601	0.938;0.967;0.357;0.709;0.535	B;B;B;B;B	0.37267	0.245;0.124;0.038;0.131;0.023	T	0.69209	-0.5205	10	0.40728	T	0.16	.	4.881	0.13679	0.18:0.644:0.0:0.1761	.	503;64;394;503;485	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	485;394;503;394;485;503	ENSP00000343158:R485Q;ENSP00000441174:R503Q;ENSP00000341138:R485Q;ENSP00000382981:R503Q	ENSP00000343158:R485Q	R	-	2	0	EPB41L3	5409762	0.999000	0.42202	0.059000	0.19551	0.335000	0.28730	2.452000	0.44961	1.469000	0.48083	0.655000	0.94253	CGG		0.552	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		47	318	0	0	0	1	0	47	318					T	5419762	C	T	5419762	3	4	74	1	0	0	0	0	1	0	0	0	5172	652	23	1	1853	1	EPB41L3	18	5419762	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		5419762	72657486	170	9355											
TCF4	6925	broad.mit.edu	37	chr18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaacctggaggaacttttCgaactttctttgtctgtacc	8	10	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:53017618C>T	ENST00000356073.4	-	8	1132	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000354452.3_Missense_Mutation_p.R174Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	174					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(520-522)cGa>cAa		transcription factor 4							141	122	128					18																	53017618		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53017618C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.521G>A	18.37:g.53017618C>T	ENSP00000348374:p.Arg174Gln					TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q	p.R174Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	8	1132	-			174					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.521G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347222	0.82022	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.48	5.48	0.80851	.	0.105285	0.42172	D	0.000742	T	0.69269	0.3092	M	0.71036	2.16	0.35708	D	0.816131	D;P;D;D;P;D;D	0.62365	0.991;0.938;0.991;0.984;0.88;0.973;0.973	P;B;P;P;B;P;B	0.47376	0.545;0.346;0.545;0.465;0.115;0.545;0.406	T	0.79983	-0.1573	10	0.87932	D	0	-15.0974	18.1047	0.89516	0.0:1.0:0.0:0.0	.	150;174;150;276;174;132;103	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	Q	174;174;132;150;150;103;44;276	ENSP00000346440:R174Q;ENSP00000348374:R174Q;ENSP00000439656:R132Q;ENSP00000445202:R150Q;ENSP00000440731:R150Q;ENSP00000441562:R103Q;ENSP00000439827:R44Q;ENSP00000381382:R276Q	ENSP00000346440:R174Q	R	-	2	0	TCF4	51168616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.985000	0.70556	2.582000	0.87167	0.491000	0.48974	CGA		0.368	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		36	217	0	0	0	1	0	36	217					T	53017618	C	T	53017618	3	4	74	1	0	0	0	0	1	0	0	0	15747	884	31	1	1542	1	TCF4	18	53017618	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	47597856	53017618	25059630	171	9356											
ANKRD24	170961	broad.mit.edu	37	chr19	4219626	4219626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagagtgagcgacaCgcagccgaggcacagctggc	14	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:4219626C>T	ENST00000600132.1	+	19	3318	c.3042C>T	c.(3040-3042)caC>caT	p.H1014H	ANKRD24_ENST00000262970.5_Silent_p.H1104H|ANKRD24_ENST00000318934.4_Silent_p.H1014H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1014										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAGCGACACGCAGCCGAGG	0.652																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3040-3042)caC>caT		ankyrin repeat domain 24							59	70	66					19																	4219626		2197	4293	6490	SO:0001819	synonymous_variant	170961							g.chr19:4219626C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3042C>T	19.37:g.4219626C>T						ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H	p.H1014H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3318	+			1014					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.3042C>T	CCDS45925.1																																																																																				0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		60	495	0	0	0	1	0	60	495					T	4219626	C	T	4219626	2	4	74	1	0	0	0	0	0	0	0	1	653	535	19	1		1	ANKRD24	19	4219626	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		4219626	54909357	172	9357											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		10	387						10	387	---	---	---	---	-	11038364	GCT	-	11038362	7	5	74	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-HZ-A77P-01A-11D-A33T-08	6818736	11038362	48090621	173	9358											
ZNF799	90576	broad.mit.edu	37	chr19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcatgatactcatAtggtttgtgcccagcaccaa	6	12	2	1	rs2902319		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:12502821A>G	ENST00000430385.3	-	4	591	c.391T>C	c.(391-393)Tat>Cat	p.Y131H	ZNF799_ENST00000419318.1_Missense_Mutation_p.Y99H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					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.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448																																						ENST00000419318.1																			1	Substitution - Missense(1)	p.Y131H(1)	prostate(1)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(295-297)Tat>Cat		zinc finger protein 799							169	155	160					19																	12502821		2203	4299	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502821A>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.391T>C	19.37:g.12502821A>G	ENSP00000411084:p.Tyr131His					ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron	p.Y99H			Q96GE5	ZN799_HUMAN			4	1044	-			131						Missense_Mutation	SNP	ENST00000430385.3	37	c.295T>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	3.267	-0.149998	0.06585	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08282	3.11;3.25	1.12	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	9	0.49607	T	0.09	.	3.7569	0.08589	0.4985:0.1981:0.3033:0.0	rs2902319	131	Q96GE5	ZN799_HUMAN	H	99;131	ENSP00000415278:Y99H;ENSP00000411084:Y131H	ENSP00000415278:Y99H	Y	-	1	0	ZNF799	12363821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.678000	0.01942	-2.231000	0.00718	-1.432000	0.01085	TAT		0.448	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	535	0	0	0	1	0	5	535					G	12502821	A	G	12502821	3	3	74	1	0	0	0	0	1	0	0	0	18219	449	16	4	1544	4	ZNF799	19	12502821	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	1464459	12502821	46626162	174	9359											
OR10H2	26538	broad.mit.edu	37	chr19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcctgggctggtggctCggtcatggggatggtggtga	19	8	1	1	rs139469467		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(457-459)tCg>tTg		olfactory receptor, family 10, subfamily H, member 2							91	75	81					19																	15839311		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839311C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu						p.S153L	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	478	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		153					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.458C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			6	369	0	0	0	1	0	6	369					T	15839311	C	T	15839311	3	4	74	1	0	0	0	0	1	0	0	0	10948	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	3336490	15839311	43289672	175	9360											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		8	1469						8	1469	---	---	---	---	-	36054351	CTT	-	36054349	7	5	74	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-HZ-A77P-01A-11D-A33T-08	20215038	36054349	23074634	176	9361											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1271						10	1271	---	---	---	---	-	36255949	CTC	-	36255947	7	5	74	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-HZ-A77P-01A-11D-A33T-08	201598	36255947	22873036	177	9362											
MRPS12	6183	broad.mit.edu	37	chr19	39423126	39423126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtgcacgtttacccGcaagccgaagaagcccaact	10	14	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:39423126G>A	ENST00000407800.2	+	2	544	c.203G>A	c.(202-204)cGc>cAc	p.R68H	CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R68H|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000600042.1_5'Flank|MRPS12_ENST00000402029.3_Missense_Mutation_p.R68H|SARS2_ENST00000221431.6_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	68					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACGTTTACCCGCAAGCCGAAG	0.687																																						ENST00000407800.2																			0				endometrium(1)|large_intestine(1)	2						c.(202-204)cGc>cAc		mitochondrial ribosomal protein S12							51	49	50					19																	39423126		2203	4300	6503	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423126G>A	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.203G>A	19.37:g.39423126G>A	ENSP00000384952:p.Arg68His					MRPS12_ENST00000402029.3_Missense_Mutation_p.R68H|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R68H|CTC-360G5.8_ENST00000599996.1_Intron	p.R68H	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	544	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		68					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.203G>A	CCDS12525.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054345	0.75960	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.43688	0.94;0.94;0.94	6.07	5.04	0.67666	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.105878	0.64402	D	0.000004	T	0.71904	0.3395	M	0.89968	3.075	0.52099	D	0.999947	D	0.89917	1.0	D	0.77004	0.989	T	0.79047	-0.1963	10	0.87932	D	0	-28.3604	17.4404	0.87563	0.0:0.0:0.8728:0.1272	.	68	O15235	RT12_HUMAN	H	68	ENSP00000308845:R68H;ENSP00000384952:R68H;ENSP00000384579:R68H	ENSP00000308845:R68H	R	+	2	0	MRPS12	44114966	1.000000	0.71417	0.754000	0.31244	0.663000	0.39108	6.111000	0.71541	0.907000	0.36646	-0.808000	0.03180	CGC		0.687	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			5	439	0	0	0	1	0	5	439					A	39423126	G	A	39423126	3	1	74	1	0	0	0	0	1	0	0	0	9864	1087	38	1	209	1	MRPS12	19	39423126	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	3167179	39423126	19705857	178	9363											
C19orf51	352909	broad.mit.edu	37	chr19	55672738	55672738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgagttcaaaggcgaCgcctgtgtcccgccagcgtc	12	15	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:55672738C>T	ENST00000524407.2	-	7	745	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	DNAAF3_ENST00000527223.2_Missense_Mutation_p.V306I|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.V285I|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000455045.1_Missense_Mutation_p.V184I|DNAAF3_ENST00000587789.2_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	238					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TCAAAGGCGACGCCTGTGTCC	0.657																																						ENST00000527223.2																			0											c.(916-918)Gtc>Atc		dynein, axonemal, assembly factor 3							18	25	23					19																	55672738		2018	4168	6186	SO:0001583	missense	352909							g.chr19:55672738C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.712G>A	19.37:g.55672738C>T	ENSP00000432046:p.Val238Ile					DNAAF3_ENST00000455045.1_Missense_Mutation_p.V184I|DNAAF3_ENST00000524407.2_Missense_Mutation_p.V238I|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.V285I	p.V306I	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			7	917	-			238					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.916G>A	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537784	0.45176	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.15952	2.38;2.38	4.15	3.11	0.35812	.	0.072738	0.52532	D	0.000075	T	0.17023	0.0409	L	0.43923	1.385	0.24705	N	0.993234	D;D;B;P	0.71674	0.998;0.975;0.078;0.861	P;B;B;B	0.49361	0.608;0.406;0.012;0.123	T	0.07347	-1.0777	10	0.27785	T	0.31	-27.8995	6.7445	0.23454	0.0:0.7852:0.0:0.2148	.	306;184;259;238	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	I	306;184;285	ENSP00000394343:V184I;ENSP00000375600:V285I	ENSP00000301249:V306I	V	-	1	0	C19orf51	60364550	0.845000	0.29573	0.780000	0.31762	0.995000	0.86356	1.542000	0.36137	1.101000	0.41535	0.549000	0.68633	GTC		0.657	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		16	134	0	0	0	1	0	16	134					T	55672738	C	T	55672738	3	4	74	1	0	0	0	0	1	0	0	0	1940	536	19	1	937	1	C19orf51	19	55672738	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	16249612	55672738	3456245	179	9364											
MZF1	7593	broad.mit.edu	37	chr19	59073841	59073841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaagcgctggccacaCtcggggcaggcaaagggttt	16	10	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:59073841C>G	ENST00000215057.2	-	6	2363	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	601					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGGCCACACTCGGGGCAGG	0.662																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1801-1803)gaG>gaC		myeloid zinc finger 1							24	20	22					19																	59073841		2202	4297	6499	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073841C>G	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1803G>C	19.37:g.59073841C>G	ENSP00000215057:p.Glu601Asp					AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E601D	p.E601D	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2363	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	601					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.1803G>C	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300340	0.40694	.	.	ENSG00000099326	ENST00000215057	T	0.32988	1.43	3.21	0.896	0.19253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.231155	0.22357	N	0.061125	T	0.15869	0.0382	N	0.17594	0.5	0.31431	N	0.673168	B	0.06786	0.001	B	0.09377	0.004	T	0.09509	-1.0671	10	0.37606	T	0.19	-7.1772	7.2841	0.26328	0.1919:0.6218:0.1863:0.0	.	601	P28698	MZF1_HUMAN	D	601	ENSP00000215057:E601D	ENSP00000215057:E601D	E	-	3	2	MZF1	63765653	0.000000	0.05858	0.985000	0.45067	0.990000	0.78478	-1.097000	0.03349	0.320000	0.23234	0.462000	0.41574	GAG		0.662	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		11	73	0	0	0	1	0	11	73					G	59073841	C	G	59073841	3	3	74	1	0	0	0	0	1	0	0	0	10149	564	20	5	405	5	MZF1	19	59073841	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	3401103	59073841	55142	180	9365											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493317	20493317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttgagcattttggcGcaaaatgacctcaatgattt	7	9	2	3	rs372317603		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:20493317G>A	ENST00000202677.7	-	32	4703	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1566					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCATTTTGGCGCAAAATGACC	0.473																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4696-4698)Cgc>Tgc		Ral GTPase activating protein, alpha subunit 2 (catalytic)		G	CYS/ARG	0,3852		0,0,1926	134	126	128		4696	4.8	1	20		128	1,8287		0,1,4143	no	missense	RALGAPA2	NM_020343.3	180	0,1,6069	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	1566/1874	20493317	1,12139	1926	4144	6070	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493317G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4696C>T	20.37:g.20493317G>A	ENSP00000202677:p.Arg1566Cys						p.R1566C	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			32	4838	-			1566					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4696C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897522	0.33535	0.0	1.21E-4	ENSG00000188559	ENST00000202677	D	0.94966	-3.57	5.97	4.84	0.62591	.	0.354493	0.30879	N	0.008681	D	0.92381	0.7582	M	0.75447	2.3	0.40991	D	0.984855	B;B;B	0.16603	0.001;0.018;0.001	B;B;B	0.08055	0.002;0.003;0.001	D	0.87717	0.2570	9	.	.	.	.	9.9276	0.41503	0.0776:0.0:0.6845:0.2379	.	1404;1566;1566	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	C	1566	ENSP00000202677:R1566C	.	R	-	1	0	RALGAPA2	20441317	0.865000	0.29922	1.000000	0.80357	0.975000	0.68041	1.804000	0.38873	2.838000	0.97847	0.561000	0.74099	CGC		0.473	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	293	0	0	0	1	0	5	293					A	20493317	G	A	20493317	3	1	74	1	0	0	0	0	1	0	0	0	13064	1087	38	1	957	1	RALGAPA2	20	20493317	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		20493317	42532203	181	9366											
DEFB119	245932	broad.mit.edu	37	chr20	29978252	29978252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactggttcttctatggccAgaaggatggcaagaaacagg	12	8	3	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29978252A>G	ENST00000376321.3	-	1	154	c.35T>C	c.(34-36)cTg>cCg	p.L12P	DEFB119_ENST00000339144.3_Missense_Mutation_p.L12P|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTATGGCCAGAAGGATGGC	0.547																																						ENST00000339144.3																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(34-36)cTg>cCg		defensin, beta 119							158	145	150					20																	29978252		2203	4300	6503	SO:0001583	missense	245932				defense response to bacterium	extracellular region		g.chr20:29978252A>G	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.35T>C	20.37:g.29978252A>G	ENSP00000365499:p.Leu12Pro					DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P|DEFB119_ENST00000376321.3_Missense_Mutation_p.L12P	p.L12P			Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	141	-	all_hematologic(12;0.158)		12					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.35T>C	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	A	8.498	0.863675	0.17250	.	.	ENSG00000180483	ENST00000339144;ENST00000376321;ENST00000376315	T;T	0.50277	0.9;0.75	3.56	3.56	0.40772	.	0.251087	0.21123	N	0.079786	T	0.64103	0.2568	.	.	.	0.45066	D	0.998088	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.952;0.98	T	0.66976	-0.5787	9	0.87932	D	0	-10.6634	8.8245	0.35047	1.0:0.0:0.0:0.0	.	12;12;12	Q8N690-2;Q8N690;Q5TH42	.;DB119_HUMAN;.	P	12	ENSP00000365499:L12P;ENSP00000365492:L12P	ENSP00000345768:L12P	L	-	2	0	DEFB119	29441913	0.995000	0.38212	0.957000	0.39632	0.058000	0.15608	3.346000	0.52190	1.865000	0.54081	0.374000	0.22700	CTG		0.547	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		76	566	0	0	0	1	0	76	566					G	29978252	A	G	29978252	3	3	74	1	0	0	0	0	1	0	0	0	4422	188	7	4	481	4	DEFB119	20	29978252	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	9484935	29978252	33047268	182	9367											
BPIL3	128859	broad.mit.edu	37	chr20	31624301	31624301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatatgttctgatgtccGcaccagccaccacagccagc	7	15	2	1	rs145056603		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:31624301G>A	ENST00000349552.1	+	7	628	c.628G>A	c.(628-630)Gca>Aca	p.A210T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	210						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTGATGTCCGCACCAGCCAC	0.587													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19377	0.0		0.0	False		,,,				2504	0.0					ENST00000349552.1																			0											c.(628-630)Gca>Aca		BPI fold containing family B, member 6		A	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	134	121	125		628	-0.9	0	20	dbSNP_134	125	1,8599	819.2+/-406.8	0,1,4299	yes	missense	BPIFB6	NM_174897.2	58	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	210/454	31624301	3,13003	2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31624301G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.628G>A	20.37:g.31624301G>A	ENSP00000344929:p.Ala210Thr						p.A210T	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			7	628	+			210						Missense_Mutation	SNP	ENST00000349552.1	37	c.628G>A	CCDS13211.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	2.632	-0.286052	0.05605	4.54E-4	1.16E-4	ENSG00000167104	ENST00000349552	T	0.04502	3.61	4.65	-0.848	0.10727	.	0.837757	0.10566	N	0.659738	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.09843	T	0.71	.	1.3326	0.02138	0.3295:0.1696:0.3472:0.1538	.	210	Q8NFQ5	BPIB6_HUMAN	T	210	ENSP00000344929:A210T	ENSP00000344929:A210T	A	+	1	0	BPIFB6	31087962	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.658000	0.05329	-0.714000	0.04975	-0.390000	0.06520	GCA		0.587	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		12	1146	0	0	0	1	0	12	1146					A	31624301	G	A	31624301	3	1	74	1	0	0	0	0	1	0	0	0	1497	1087	38	1	654	1	BPIL3	20	31624301	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	1646049	31624301	31401219	183	9368											
CHD6	84181	broad.mit.edu	37	chr20	40052280	40052280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttttcttttcttgatcGtaaacaacaccaaaggaaga	7	7	2	2	rs148419318		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:40052280G>A	ENST00000373233.3	-	30	4584	c.4407C>T	c.(4405-4407)taC>taT	p.Y1469Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1469	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTCTTGATCGTAAACAACAC	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18633	0.0		0.0	False		,,,				2504	0.0					ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4405-4407)taC>taT		chromodomain helicase DNA binding protein 6		G		6,4400	11.4+/-27.6	0,6,2197	134	138	137		4407	1	1	20	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	CHD6	NM_032221.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		1469/2716	40052280	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052280G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4407C>T	20.37:g.40052280G>A							p.Y1469Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			30	4584	-		Myeloproliferative disorder(115;0.00425)	1469					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4407C>T	CCDS13317.1																																																																																				0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			6	821	0	0	0	1	0	6	821					A	40052280	G	A	40052280	2	1	74	1	0	0	0	0	0	0	0	1	3338	1140	40	1		1	CHD6	20	40052280	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8427979	40052280	22973240	184	9369											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-													ctgggtttgtaggcttgggcTtttttttaacagcagatggc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs	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	635					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)			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)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				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						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203	199	200					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	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.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					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	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		9	1211						9	1211	---	---	---	---	-	45875072	T	-	45875072	7	5	74	1	0	1	0	1	0	0	0	0	17764	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	5822792	45875072	17150448	185	9370											
KCNB1	3745	broad.mit.edu	37	chr20	47989628	47989628	+	Frame_Shift_Del	DEL	T	T	-													ttttcctgaccactggggccTtttccagtcaatgcttctgt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:47989628delT	ENST00000371741.4	-	2	2635	c.2469delA	c.(2467-2469)aaafs	p.K823fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	823					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CACTGGGGCCTTTTCCAGTCA	0.507																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2467-2469)aafs		potassium voltage-gated channel, Shab-related subfamily, member 1							120	119	119					20																	47989628		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989628delT	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2469delA	20.37:g.47989628delT	ENSP00000360806:p.Lys823fs						p.K823fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2635	-			823					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2469delA	CCDS13418.1																																																																																				0.507	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	734						7	734	---	---	---	---	-	47989628	T	-	47989628	7	5	74	1	0	1	0	1	0	0	0	0	8042	1606	56	0	111	0	KCNB1	20	47989628	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	2114556	47989628	15035892	186	9371											
NFATC2	4773	broad.mit.edu	37	chr20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatcatcggggtatgCgggtccggagggtgggctgg	20	8	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.A59T(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							49	57	54					20																	50140605		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr					NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	NFATC2	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		6	613	0	0	0	1	0	6	613					T	50140605	C	T	50140605	3	4	74	1	0	0	0	0	1	0	0	0	10404	768	27	1	2686	1	NFATC2	20	50140605	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2150977	50140605	12884915	187	9372											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	333						8	333	---	---	---	---	T	58452519	-	T	58452518	7	5	74	1	0	1	1	0	0	0	0	0	15484	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	8311913	58452518	4573002	188	9373											
SLC17A9	63910	broad.mit.edu	37	chr20	61594101	61594101	+	Frame_Shift_Del	DEL	A	A	-													gtacaggtacctgctgagtgAaaaaggtaacgcaggccggg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:61594101delA	ENST00000370351.4	+	5	754	c.623delA	c.(622-624)gaafs	p.E208fs	SLC17A9_ENST00000370349.3_Frame_Shift_Del_p.E202fs|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	208					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTGCTGAGTGAAAAAGGTAAC	0.642																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(604-606)gafs		solute carrier family 17 (vesicular nucleotide transporter), member 9							104	118	114					20																	61594101		1961	4133	6094	SO:0001589	frameshift_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594101delA	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.623delA	20.37:g.61594101delA	ENSP00000359376:p.Glu208fs					SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.E208fs|SLC17A9_ENST00000488738.1_3'UTR	p.E202fs			Q9BYT1	S17A9_HUMAN			6	809	+			208					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Frame_Shift_Del	DEL	ENST00000370351.4	37	c.605delA	CCDS42901.1																																																																																				0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		7	1093						7	1093	---	---	---	---	-	61594101	A	-	61594101	7	5	74	1	0	1	0	1	0	0	0	0	14474	246	9	0	641	0	SLC17A9	20	61594101	Frame_Shift_Del	DEL	A	TCGA-HZ-A77P-01A-11D-A33T-08	3141583	61594101	1431419	189	9374											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	10	14	1	0	rs398123018		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105	112	110					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		10	1007	0	0	0	1	0	10	1007					T	62324513	C	T	62324513	3	4	74	1	0	0	0	0	1	0	0	0	13770	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	730412	62324513	701007	190	9375											
TPTE	7179	broad.mit.edu	37	chr21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaatatgcaacatatctCttctgaaaagcaacagaaat	5	8	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000298232.7_Missense_Mutation_p.K373N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	566	1	0	0.00116845	1	0.0011952	6	566					A	10916473	C	A	10916473	3	1	74	1	0	0	0	0	1	0	0	0	16483	912	32	3	502	3	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		10916473	37213422	191	9376											
SON	6651	broad.mit.edu	37	chr21	34922087	34922087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaccaatgaatcccctGcagttgtgctagaacctcct	8	13	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:34922087G>T	ENST00000356577.4	+	3	1025	c.550G>T	c.(550-552)Gca>Tca	p.A184S	SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.A184S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	184					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)			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						TGAATCCCCTGCAGTTGTGCT	0.448											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000356577.4																			0				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						c.(550-552)Gca>Tca		SON DNA binding protein							89	89	89					21																	34922087		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.chr21:34922087G>T	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.550G>T	21.37:g.34922087G>T	ENSP00000348984:p.Ala184Ser		OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.A184S|SON_ENST00000381679.4_Missense_Mutation_p.A184S	p.A184S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	1025	+			184					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.550G>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185090	0.38609	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14144	2.72;2.71;2.71;2.53	5.77	-1.16	0.09678	.	0.483837	0.19324	N	0.117068	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46859	0.817;0.885;0.794	B;B;B	0.43052	0.23;0.406;0.406	T	0.23119	-1.0197	10	0.62326	D	0.03	.	1.2414	0.01964	0.1591:0.2573:0.3049:0.2787	.	184;184;184	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	184	ENSP00000348984:A184S;ENSP00000290239:A184S;ENSP00000300278:A184S;ENSP00000371095:A184S	ENSP00000290239:A184S	A	+	1	0	SON	33843957	0.268000	0.24133	0.147000	0.22382	0.381000	0.30169	0.044000	0.13992	-0.100000	0.12241	0.655000	0.94253	GCA		0.448	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		55	416	1	0	1.70232e-10	1	1.84705e-10	55	416					T	34922087	G	T	34922087	3	4	74	1	0	0	0	0	1	0	0	0	14976	1319	46	3	560	3	SON	21	34922087	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	24005614	34922087	13207808	192	9377											
SEPT5	5413	broad.mit.edu	37	chr22	19707641	19707641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccttccccgtagagcGcatcagccagacggtagaga	12	14	1	3	rs138702635		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:19707641G>A	ENST00000455784.2	+	5	367	c.242G>A	c.(241-243)cGc>cAc	p.R81H	SEPT5_ENST00000406395.1_Missense_Mutation_p.R81H|SEPT5_ENST00000438754.2_Missense_Mutation_p.R90H|SEPT5_ENST00000383045.3_Missense_Mutation_p.R90H|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	81	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCCGTAGAGCGCATCAGCCAG	0.607																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(268-270)cGc>cAc		septin 5							80	69	73					22																	19707641		2202	4300	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707641G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.242G>A	22.37:g.19707641G>A	ENSP00000391311:p.Arg81His					SEPT5_ENST00000406395.1_Missense_Mutation_p.R81H|SEPT5_ENST00000455784.2_Missense_Mutation_p.R81H|SEPT5_ENST00000383045.3_Missense_Mutation_p.R90H	p.R90H	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			4	549	+	Colorectal(54;0.0993)		81					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.269G>A	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429670	0.83776	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.52754	1.38;1.38;1.38;1.38;1.38;1.38;0.65	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71510	-0.4571	10	0.87932	D	0	.	16.1133	0.81278	0.0:0.0:1.0:0.0	.	81	Q99719	SEPT5_HUMAN	H	81;81;52;34;119;90;90;34	ENSP00000391311:R81H;ENSP00000384535:R81H;ENSP00000408678:R34H;ENSP00000414488:R119H;ENSP00000372515:R90H;ENSP00000394541:R90H;ENSP00000378541:R34H	ENSP00000372515:R90H	R	+	2	0	SEPT5	18087641	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.561000	0.82288	2.108000	0.64289	0.400000	0.26472	CGC		0.607	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		4	222	0	0	0	1	0	4	222					A	19707641	G	A	19707641	3	1	74	1	0	0	0	0	1	0	0	0	14117	1087	38	1	260	1	SEPT5	22	19707641	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		19707641	31596925	193	9378											
C22orf36	2678	broad.mit.edu	37	chr22	24982258	24982258	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggtccagcaccgccaGcacagcaccatggctgctca	10	17	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:24982258G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Silent_p.L182L	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGCACCGCCAGCACAGCACCA	0.652																																						ENST00000318753.8																			0											c.(544-546)Ctg>Ttg		family with sequence similarity 211, member B							105	118	113					22																	24982258		2182	4290	6472	SO:0001627	intron_variant	388886							g.chr22:24982258G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2482G>A	22.37:g.24982258G>A						GGT1_ENST00000248923.4_Intron	p.L182L	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	567	-			182					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.544C>T	CCDS42992.1																																																																																				0.652	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		6	938	0	0	0	1	0	6	938					A	24982258	G	A	24982258	1	1	74	0	1	0	0	0	0	0	0	0	2153	962	34	2		2	C22orf36	22	24982258	Intron	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5274617	24982258	26322308	194	9379											
SEZ6L	23544	broad.mit.edu	37	chr22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaaggaatgactcctgctCggatttacccgagatccaga	9	11	1	3	rs574275567		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:26743709C>T	ENST00000248933.6	+	11	2332	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	746	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACTCCTGCTCGGATTTACCC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18252	0.001		0.0	False		,,,				2504	0.0					ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2236-2238)tCg>tTg		seizure related 6 homolog (mouse)-like							74	70	71					22																	26743709		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26743709C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2237C>T	22.37:g.26743709C>T	ENSP00000248933:p.Ser746Leu					SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L	p.S746L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			11	2433	+			746			Sushi 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2237C>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592053	0.66219	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.88	3.84	0.44239	Complement control module (2);Sushi/SCR/CCP (3);	0.161209	0.29100	N	0.013144	T	0.47764	0.1463	L	0.35487	1.065	0.80722	D	1	B;B;B;P;B;B;B	0.35208	0.429;0.192;0.083;0.49;0.228;0.115;0.115	B;B;B;B;B;B;B	0.28305	0.088;0.08;0.016;0.081;0.081;0.08;0.08	T	0.57136	-0.7863	10	0.72032	D	0.01	.	12.7022	0.57041	0.0:0.9192:0.0:0.0808	.	746;746;519;746;746;746;746	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	746;746;746;746;746;519;519	ENSP00000384772:S746L;ENSP00000437037:S746L;ENSP00000354185:S746L;ENSP00000248933:S746L;ENSP00000342661:S746L;ENSP00000384838:S519L;ENSP00000384733:S519L	ENSP00000248933:S746L	S	+	2	0	SEZ6L	25073709	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	5.529000	0.67135	2.543000	0.85770	0.655000	0.94253	TCG		0.517	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			42	330	0	0	0	1	0	42	330					T	26743709	C	T	26743709	3	4	74	1	0	0	0	0	1	0	0	0	14193	893	31	1	2279	1	SEZ6L	22	26743709	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	1761451	26743709	24560857	195	9380											
MN1	4330	broad.mit.edu	37	chr22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													tttggcgctgctgctgctgcTgctgttgctgttgctgttgc					rs202212250|rs530519178	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					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						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(1630-1638)cag>ca		meningioma (disrupted in balanced translocation) 1				149,3245		28,93,1576						0.6	1		dbSNP_131	5	263,6801		42,179,3311	no	coding	MN1	NM_002430.2		70,272,4887	A1A1,A1R,RR		3.7231,4.3901,3.9396				412,10046				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194895_28194900delTGCTGT	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.1632_1637delACAGCA	22.37:g.28194901_28194906delTGCTGT	ENSP00000304956:p.Gln548_Gln549del						p.QQQ547del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2586_2591	-			547			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1632_1637delACAGCA	CCDS42998.1																																																																																				0.646	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	25						10	25	---	---	---	---	-	28194900	TGCTGT	-	28194895	7	5	74	1	0	1	0	1	0	0	0	0	9714	1580	55	0	2333	0	MN1	22	28194895	In_Frame_Del	DEL	TGCTGT	TCGA-HZ-A77P-01A-11D-A33T-08	1451186	28194895	23109671	196	9381											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143	145	144					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		9	967						9	967	---	---	---	---	-	30050682	T	-	30050682	7	5	74	1	0	1	0	1	0	0	0	0	10399	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	1855787	30050682	21253884	197	9382											
PATZ1	23598	broad.mit.edu	37	chr22	31740475	31740475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgggacagcttgtgccGgttaagatgatacacatcac	12	8	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:31740475G>A	ENST00000266269.5	-	1	1743	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	PATZ1_ENST00000215919.3_Missense_Mutation_p.R372W|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.R372W|PATZ1_ENST00000351933.4_Missense_Mutation_p.R372W	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGCTTGTGCCGGTTAAGATGA	0.582																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1114-1116)Cgg>Tgg		POZ (BTB) and AT hook containing zinc finger 1							113	108	109					22																	31740475		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740475G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1114C>T	22.37:g.31740475G>A	ENSP00000266269:p.Arg372Trp					PATZ1_ENST00000405309.3_Missense_Mutation_p.R372W|PATZ1_ENST00000351933.4_Missense_Mutation_p.R372W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R372W	p.R372W	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1743	-			372					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1114C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062779	0.76187	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.78	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.992;0.999;0.992	T	0.11717	-1.0576	10	0.87932	D	0	-16.1243	13.372	0.60719	0.0:0.0:0.8413:0.1587	.	372;372;372;372	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	W	372	ENSP00000266269:R372W;ENSP00000384173:R372W;ENSP00000337520:R372W;ENSP00000215919:R372W	ENSP00000215919:R372W	R	-	1	2	PATZ1	30070475	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.665000	0.74442	0.992000	0.38840	-0.314000	0.08810	CGG		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	607	0	0	0	1	0	5	607					A	31740475	G	A	31740475	3	1	74	1	0	0	0	0	1	0	0	0	11518	1115	39	1	1252	1	PATZ1	22	31740475	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	1689793	31740475	19564091	198	9383											
PKDREJ	10343	broad.mit.edu	37	chr22	46657222	46657222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagtgggagcctgtgcGgtggcatgcaaagtcacctg	15	9	2	0	rs372770860		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:46657222G>A	ENST00000253255.5	-	1	1997	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	666	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAGCCTGTGCGGTGGCATGCA	0.433																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1996-1998)acC>acT		polycystin (PKD) family receptor for egg jelly		G		1,4405		0,1,2202	75	82	80		1998	-9.9	0	22		80	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		666/2254	46657222	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657222G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1998C>T	22.37:g.46657222G>A							p.T666T	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1997	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	666			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1998C>T	CCDS14073.1																																																																																				0.433	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	639	0	0	0	1	0	5	639					A	46657222	G	A	46657222	2	1	74	1	0	0	0	0	0	0	0	1	12012	1103	39	1		1	PKDREJ	22	46657222	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	14916747	46657222	4647344	199	9384											
PPP2R3B	28227	broad.mit.edu	37	chrX	299380	299380	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagtctcctcggccaccagGatgtcgtactcctcggccgc	11	17	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:299380G>T	ENST00000390665.3	-	12	1554	c.1536C>A	c.(1534-1536)atC>atA	p.I512I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	512					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCACCAGGATGTCGTACT	0.692																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1534-1536)atC>atA		protein phosphatase 2, regulatory subunit B'', beta							91	82	85					X																	299380		2183	4281	6464	SO:0001819	synonymous_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:299380G>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1536C>A	X.37:g.299380G>T							p.I512I	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			12	1554	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	512					Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	c.1536C>A	CCDS14104.1																																																																																				0.692	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		13	153	1	0	9.05144e-12	1	9.90117e-12	13	153					T	299380	G	T	299380	2	4	74	1	0	0	0	0	0	0	0	1	12436	1164	41	3		3	PPP2R3B	23	299380	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		299380	154971180	200	9385											
CXorf36	79742	broad.mit.edu	37	chrX	45011191	45011191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagccggaaaccaggcaGctaaaaatgtctttattctc	9	10	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:45011191G>A	ENST00000398000.2	-	5	1082	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	336						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						AAACCAGGCAGCTAAAAATGT	0.542																																						ENST00000398000.2																			0				endometrium(1)|large_intestine(2)|lung(4)	7						c.(1006-1008)agC>agT		chromosome X open reading frame 36							27	27	27					X																	45011191		1562	3574	5136	SO:0001819	synonymous_variant	79742					extracellular region		g.chrX:45011191G>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1008C>T	X.37:g.45011191G>A						CXorf36_ENST00000477281.1_5'UTR	p.S336S	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN			5	1082	-			336					A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	c.1008C>T	CCDS48096.1																																																																																				0.542	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		8	23	0	0	0	1	0	8	23					A	45011191	G	A	45011191	2	1	74	1	0	0	0	0	0	0	0	1	4117	962	34	2		2	CXorf36	23	45011191	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	44711811	45011191	110259369	201	9386											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	326						8	326	---	---	---	---	-	76907784	TCC	-	76907782	7	5	74	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-HZ-A77P-01A-11D-A33T-08	31896591	76907782	78362778	202	9387											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	342						7	342	---	---	---	---	-	110406208	GAA	-	110406206	7	5	74	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-HZ-A77P-01A-11D-A33T-08	33498424	110406206	44864354	203	9388											
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	11	12	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3																			2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128	105	113					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys					DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		4	270	0	0	0	1	0	4	270					A	110644391	G	A	110644391	3	1	74	1	0	0	0	0	1	0	0	0	4329	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	238185	110644391	44626169	204	9389											
MAGEC1	9947	broad.mit.edu	37	chrX	140993906	140993908	+	In_Frame_Del	DEL	CCT	CCT	-													tctccagattcctgtgagccCctcctcctcctccactttac					rs146816736|rs140572967	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:140993906_140993908delCCT	ENST00000285879.4	+	4	1002_1004	c.716_718delCCT	c.(715-720)ccctcc>ccc	p.S243del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	243										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAGCCCCTCCTCCTCCTC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(715-720)ccc>c		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140993906_140993908delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.716_718delCCT	X.37:g.140993915_140993917delCCT	ENSP00000285879:p.Ser243del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.PS239del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1002_1004	+	Acute lymphoblastic leukemia(192;6.56e-05)		239	P -> S (in Ref. 1 and 2).				A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.716_718delCCT	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1144						7	1144	---	---	---	---	-	140993908	CCT	-	140993906	7	5	74	1	0	1	0	1	0	0	0	0	9221	623	22	0	722	0	MAGEC1	23	140993906	In_Frame_Del	DEL	CCT	TCGA-HZ-A77P-01A-11D-A33T-08	30349515	140993906	14276654	205	9390											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	1373						8	1373	---	---	---	---	-	140994846	CCT	-	140994844	7	5	74	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-HZ-A77P-01A-11D-A33T-08	938	140994844	14275716	206	9391											
SPANXN2	494119	broad.mit.edu	37	chrX	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-													ctaacaatcttacctcatcaTtttttttgttattggattca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214	197	202			-0.2	0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		8	571						8	571	---	---	---	---	-	142803692	T	-	142803692	7	5	74	1	0	1	0	1	0	0	0	0	15043	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08	1808848	142803692	12466868	207	9392											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	351						10	351	---	---	---	---	-	149639635	GCA	-	149639633	7	5	74	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-HZ-A77P-01A-11D-A33T-08	6835941	149639633	5630927	208	9393											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	592						7	592	---	---	---	---	-	149984526	GTG	-	149984524	7	5	74	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HZ-A77P-01A-11D-A33T-08	344891	149984524	5286036	209	9394											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	217	0	0	0	1	0	6	217					A	150156360	G	A	150156360	2	1	74	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	171836	150156360	5114200	210	9395											
ANGPTL7	10218	broad.mit.edu	37	chr1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctaccagaagaactacCgcatctctggagtgtataag	8	12	2	2	rs572517061		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs28991002). {ECO:0000269|Ref.6}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(418-420)Cgc>Agc		angiopoietin-like 7							198	160	173					1																	11252368		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11252368C>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.418C>A	1.37:g.11252368C>A	ENSP00000366015:p.Arg140Ser					MTOR_ENST00000361445.4_Intron	p.R140S	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	2	657	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	140		R -> H (in dbSNP:rs28991002).	Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.418C>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	ANGPTL7	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC		0.512	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		10	911	1	0	0.000673444	0.000673444	0.00785517	10	911					A	11252368	C	A	11252368	3	1	75	1	0	0	0	0	1	0	0	0	619	652	23	3	424	3	ANGPTL7	1	11252368	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		11252368	237998253	1	9396											
PRDM2	7799	broad.mit.edu	37	chr1	14108532	14108532	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagctcagcaaaatgtcgtcGaataagctcaaattaaatgc	8	8	2	0	rs559689099		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000311066.5_Silent_p.S1414S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4240-4242)tcG>tcT		PR domain containing 2, with ZNF domain							69	75	73					1																	14108532		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108532G>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4242G>T	1.37:g.14108532G>T						PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S	p.S1414S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5098	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1414			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4242G>T	CCDS150.1																																																																																				0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		9	412	1	0	3.86212e-05	0.000673444	0.000778902	9	412					T	14108532	G	T	14108532	2	4	75	1	0	0	0	0	0	0	0	1	12505	1045	37	3		3	PRDM2	1	14108532	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2856164	14108532	235142089	2	9397											
RSC1A1	6248	broad.mit.edu	37	chr1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgccacagatattgacCgcattctccgtgctggcttt	8	13	1	2	rs374978366		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1735-1737)Cgc>Agc		regulatory solute carrier protein, family 1, member 1							219	201	207					1																	15988098		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988098C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1735C>A	1.37:g.15988098C>A	ENSP00000341963:p.Arg579Ser					DDI2_ENST00000480945.1_3'UTR	p.R579S	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1735	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	579			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1735C>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291445	0.59976	.	.	ENSG00000215695	ENST00000345034	T	0.56103	0.48	5.96	5.03	0.67393	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.54062	0.1835	N	0.08118	0	0.37857	D	0.929571	D	0.89917	1.0	D	0.91635	0.999	T	0.67745	-0.5591	10	0.87932	D	0	-44.9555	14.8264	0.70117	0.1494:0.8506:0.0:0.0	.	579	Q92681	RSCA1_HUMAN	S	579	ENSP00000341963:R579S	ENSP00000341963:R579S	R	+	1	0	RSC1A1	15860685	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.805000	0.47939	1.466000	0.48025	0.655000	0.94253	CGC		0.468	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		11	700	1	0	0.00010058	0.00010058	0.00173709	11	700					A	15988098	C	A	15988098	3	1	75	1	0	0	0	0	1	0	0	0	13748	652	23	3	1737	3	RSC1A1	1	15988098	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1879566	15988098	233262523	3	9398											
NBPF1	55672	broad.mit.edu	37	chr1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgggctgagcttttGgacaaggtgctgtgccagtc	13	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K|NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562																																						ENST00000430580.2																			0											c.(2104-2106)Caa>Aaa		neuroblastoma breakpoint family, member 1							124	139	133					1																	16902777		1509	2700	4209	SO:0001583	missense	55672					cytoplasm		g.chr1:16902777G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2104C>A	1.37:g.16902777G>T	ENSP00000474456:p.Gln702Lys					NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	p.Q702K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2991	-			702					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2104C>A																																																																																					0.562	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		19	2025	1	0	1.58986e-06	0.000673444	4.62318e-05	19	2025					T	16902777	G	T	16902777	3	4	75	1	0	0	0	0	1	0	0	0	10233	1357	47	3	1364	3	NBPF1	1	16902777	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	914679	16902777	232347844	4	9399											
SH2D5	400745	broad.mit.edu	37	chr1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggtaggcccccgagCggatcaccttgctgcgaatg	14	14	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000444387.2	-	7	1134	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	246								p.R162H(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)		GGCCCCCGAGCGGATCACCTT	0.667																																						ENST00000375031.1																			1	Substitution - Missense(1)	p.R162H(1)	prostate(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(484-486)cGc>cAc		SH2 domain containing 5							46	55	52					1																	21050638		2093	4200	6293	SO:0001583	missense	400745							g.chr1:21050638C>T	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.737G>A	1.37:g.21050638C>T	ENSP00000406026:p.Arg246His					SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H|SH2D5_ENST00000460804.1_5'UTR	p.R162H	NM_001103160.1	NP_001096630.1	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)	6	1109	-		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)	162					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.485G>A	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	SH2D5	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC		0.667	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		36	215	0	0	0	0.000814825	0	36	215					T	21050638	C	T	21050638	3	4	75	1	0	0	0	0	1	0	0	0	14287	768	27	1	550	1	SH2D5	1	21050638	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4147861	21050638	228199983	5	9400											
EIF4G3	8672	broad.mit.edu	37	chr1	21180069	21180069	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctagttaaggtccttcGggaatcaaactctacaggcg	9	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000264211.8	-	21	3561	c.3367C>A	c.(3367-3369)Cga>Aga	p.R1123R	EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000602326.1_Silent_p.R1129R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000400422.1_Silent_p.R1123R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3385-3387)Cga>Aga		eukaryotic translation initiation factor 4 gamma, 3							112	100	104					1																	21180069		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21180069G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3367C>A	1.37:g.21180069G>T						EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000264211.8_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R	p.R1129R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	25	3968	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1123					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.3385C>A	CCDS214.1																																																																																				0.507	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		6	172	1	0	5.18039e-06	0.000157383	0.000141431	6	172					T	21180069	G	T	21180069	2	4	75	1	0	0	0	0	0	0	0	1	5056	1124	39	3		3	EIF4G3	1	21180069	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	129431	21180069	228070552	6	9401											
CSMD2	114784	broad.mit.edu	37	chr1	33985222	33985222	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggttctcaaatgtggcccGaacattggtgttctcgtggc	13	9	2	0	rs144356782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:33985222G>T	ENST00000373381.4	-	70	10968	c.10792C>A	c.(10792-10794)Cgg>Agg	p.R3598R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3454W(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)				AATGTGGCCCGAACATTGGTG	0.537																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.R3454W(1)	skin(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						c.(10792-10794)Cgg>Agg		CUB and Sushi multiple domains 2							316	275	289					1																	33985222		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985222G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10792C>A	1.37:g.33985222G>T							p.R3598R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			70	10968	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3454					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10792C>A																																																																																					0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	1162	1	0	1.49906e-05	0.000219431	0.000353665	15	1162					T	33985222	G	T	33985222	2	4	75	1	0	0	0	0	0	0	0	1	3956	1057	37	3		3	CSMD2	1	33985222	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12805153	33985222	215265399	7	9402											
EIF2C4	192670	broad.mit.edu	37	chr1	36291547	36291547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctgcaactgctttctacCgggctcagcctatcattgag	8	12	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:36291547C>A	ENST00000373210.3	+	6	891	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	216					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGCTTTCTACCGGGCTCAGCC	0.423																																						ENST00000373210.3																			0											c.(646-648)Cgg>Agg		argonaute RISC catalytic component 4							185	184	184					1																	36291547		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36291547C>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.646C>A	1.37:g.36291547C>A							p.R216R	NM_017629.3	NP_060099.2					6	891	+								A7MD27	Silent	SNP	ENST00000373210.3	37	c.646C>A	CCDS397.1																																																																																				0.423	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		10	930	1	0	0.000673444	0.000673444	0.00785517	10	930					A	36291547	C	A	36291547	2	1	75	1	0	0	0	0	0	0	0	1	5024	643	23	3		3	EIF2C4	1	36291547	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2306325	36291547	212959074	8	9403											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		8	867						8	867	---	---	---	---	-	38166151	GAA	-	38166149	7	5	75	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-HZ-A77Q-01A-11D-A36O-08	1874602	38166149	211084472	9	9404											
MACF1	23499	broad.mit.edu	37	chr1	39852861	39852861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttattttctcatttcagccGatcgcattaacagactccag	5	11	2	1	rs569180777	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39852861G>T	ENST00000372915.3	+	57	14449	c.14362G>T	c.(14362-14364)Gat>Tat	p.D4788Y	MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000564288.1_Missense_Mutation_p.D4783Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4788					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTCAGCCGATCGCATTAA	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14347-14349)Gat>Tat		microtubule-actin crosslinking factor 1							103	116	111					1																	39852861		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852861G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14362G>T	1.37:g.39852861G>T	ENSP00000362006:p.Asp4788Tyr					MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000372915.3_Missense_Mutation_p.D4788Y	p.D4783Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15124	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4788					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14347G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.07|17.07	3.293902|3.293902	0.60086|0.60086	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35973|.	1.28;1.28;1.28;1.28;1.28;1.28|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.748;0.701|.	D;B;P|.	0.97110|.	1.0;0.362;0.481|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.59425|.	D|.	0.04|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4788;2721;2665|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Y|L	2721;4788;2721;2721;2700;3223|1833	ENSP00000439537:D2721Y;ENSP00000362006:D4788Y;ENSP00000354573:D2721Y;ENSP00000313438:D2721Y;ENSP00000444364:D2700Y;ENSP00000289893:D3223Y|.	ENSP00000289893:D3223Y|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39625448|39625448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.679000|5.679000	0.68160|0.68160	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	634	1	0	0.000442599	0.000442599	0.00556767	8	634					T	39852861	G	T	39852861	3	4	75	1	0	0	0	0	1	0	0	0	9183	1058	37	3	14522	3	MACF1	1	39852861	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1686712	39852861	209397760	10	9405											
MACF1	23499	broad.mit.edu	37	chr1	39907708	39907708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctcaatactgttaaagatCagttaaatgaaatgaaggtt	7	5	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39907708C>A	ENST00000372915.3	+	74	18541	c.18454C>A	c.(18454-18456)Cag>Aag	p.Q6152K	MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000564288.1_Missense_Mutation_p.Q6253K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6152					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTAAAGATCAGTTAAATGA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18757-18759)Cag>Aag		microtubule-actin crosslinking factor 1							105	99	101					1																	39907708		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907708C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18454C>A	1.37:g.39907708C>A	ENSP00000362006:p.Gln6152Lys					MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000372915.3_Missense_Mutation_p.Q6152K	p.Q6253K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19534	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6262					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.18757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762666|4.762666	0.89932|0.89932	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.81861|.	0.4912|.	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.995;1.0|.	D;D|.	0.91635|.	0.983;0.999|.	T|.	0.81797|.	-0.0768|.	10|.	0.87932|.	D|.	0|.	.|.	19.6758|19.6758	0.95932|0.95932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6152;4194|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	K|X	4194;6152;4194;4194;4064;4696|3197	ENSP00000439537:Q4194K;ENSP00000362006:Q6152K;ENSP00000354573:Q4194K;ENSP00000313438:Q4194K;ENSP00000444364:Q4064K;ENSP00000289893:Q4696K|.	ENSP00000289893:Q4696K|.	Q|S	+|+	1|2	0|0	MACF1|MACF1	39680295|39680295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	482	1	0	5.50884e-06	0.00010058	0.000142319	9	482					A	39907708	C	A	39907708	3	1	75	1	0	0	0	0	1	0	0	0	9183	827	29	3	19013	3	MACF1	1	39907708	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	54847	39907708	209342913	11	9406											
B4GALT2	8704	broad.mit.edu	37	chr1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctaggtttaccaagattCaaaacacgaagctgaccatg	7	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K|CCDC24_ENST00000372318.3_5'Flank	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(982-984)Caa>Aaa		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						234	259	250					1																	44455983		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455983C>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.982C>A	1.37:g.44455983C>A	ENSP00000349293:p.Gln328Lys					B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K	p.Q328K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1772	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	328					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.982C>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291477	0.10567	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.37630	1.12	0.54753	D	0.999985	B;B;B	0.24882	0.013;0.113;0.069	B;B;B	0.26517	0.004;0.07;0.032	T	0.04650	-1.0936	10	0.05721	T	0.95	-5.8311	15.6663	0.77234	0.1383:0.8617:0.0:0.0	.	357;262;328	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	K	328;262;328;357	ENSP00000361399:Q328K;ENSP00000407468:Q262K;ENSP00000349293:Q328K;ENSP00000310696:Q357K	ENSP00000310696:Q357K	Q	+	1	0	B4GALT2	44228570	0.962000	0.33011	1.000000	0.80357	0.990000	0.78478	1.823000	0.39062	1.356000	0.45884	0.543000	0.68304	CAA		0.473	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		14	1226	1	0	5.3912e-06	0.00074312	0.000142319	14	1226					A	44455983	C	A	44455983	3	1	75	1	0	0	0	0	1	0	0	0	1272	827	29	3	1004	3	B4GALT2	1	44455983	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4548275	44455983	204794638	12	9407											
KIF2C	11004	broad.mit.edu	37	chr1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttatgttttcatagttcGgaggaaatcatgtcttgtga	9	4	3	1	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372224.4	+	7	679	c.566G>T	c.(565-567)cGg>cTg	p.R189L	KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(403-405)cGg>cTg		kinesin family member 2C							58	66	63					1																	45219408		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45219408G>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.566G>T	1.37:g.45219408G>T	ENSP00000361298:p.Arg189Leu					KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000493027.1_3'UTR	p.R135L			Q99661	KIF2C_HUMAN			6	755	+	Acute lymphoblastic leukemia(166;0.155)		189			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.404G>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	KIF2C	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG		0.398	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		7	225	1	0	1.12685e-05	0.000274275	0.000275198	7	225					T	45219408	G	T	45219408	3	4	75	1	0	0	0	0	1	0	0	0	8329	1116	39	3	592	3	KIF2C	1	45219408	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	763425	45219408	204031213	13	9408											
ATPAF1	64756	broad.mit.edu	37	chr1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaacccgtaggtctctttcCgatcagtagcgtagaagagc	10	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000371937.4	-	9	955	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000576409.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(919-921)cGg>cTg		ATP synthase mitochondrial F1 complex assembly factor 1							219	218	219					1																	47101584		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47101584C>A	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"Mitochondrial respiratory chain complex assembly factors"	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.851G>T	1.37:g.47101584C>A	ENSP00000361005:p.Arg284Leu					ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L	p.R307L			Q5TC12	ATPF1_HUMAN			9	982	-	Acute lymphoblastic leukemia(166;0.155)		284					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.920G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	ATPAF1|ATPAF1	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG		0.458	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		10	926	1	0	0.000673444	0.000673444	0.00785517	10	926					A	47101584	C	A	47101584	3	1	75	1	0	0	0	0	1	0	0	0	1201	652	23	3	139	3	ATPAF1	1	47101584	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1882176	47101584	202149037	14	9409											
SPATA6	54558	broad.mit.edu	37	chr1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaagaaattgtaggctgttCgtagttttttgcatttatac	9	4	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408																																						ENST00000371847.3																			1	Substitution - Nonsense(1)	p.E207*(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(619-621)Gaa>Taa		spermatogenesis associated 6							259	262	261					1																	48865184		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865184C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.619G>T	1.37:g.48865184C>A	ENSP00000360913:p.Glu207*					SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	p.E207*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			7	783	-			207					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.619G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	37	6.599110	0.97692	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.57	5.57	0.84162	.	0.120087	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:1.0:0.0:0.0	.	.	.	.	X	207;207;135;48	.	ENSP00000360907:E48X	E	-	1	0	SPATA6	48637771	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.736000	0.38187	2.611000	0.88343	0.555000	0.69702	GAA		0.408	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		19	772	1	0	0.000229342	0.000229342	0.00356678	19	772					A	48865184	C	A	48865184	4	1	75	1	0	0	0	0	0	1	0	0	15065	893	31	3	875	3	SPATA6	1	48865184	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1763600	48865184	200385437	15	9410											
DIO1	1733	broad.mit.edu	37	chr1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctgaccttcatttatgttCaaatttgaccagttcaagag	6	9	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(391-393)ttC>ttA		deiodinase, iodothyronine, type I							271	244	253					1																	54370394		1907	4123	6030	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370394C>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.393C>A	1.37:g.54370394C>A	ENSP00000354643:p.Phe131Leu					DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L	p.F131L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN			2	417	+			131					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.393C>A	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595138	0.28445	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.57;1.57	5.37	3.49	0.39957	Thioredoxin-like fold (1);	0.395803	0.20764	N	0.086110	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15930	0.002;0.002;0.015	B;B;B	0.15484	0.002;0.003;0.013	T	0.04946	-1.0916	10	0.11182	T	0.66	.	6.6538	0.22977	0.1409:0.6659:0.1215:0.0717	.	131;131;67	P49895-5;P49895;P49895-2	.;IOD1_HUMAN;.	L	88;131;131;67;2	ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L	ENSP00000323198:F131L	F	+	3	2	DIO1	54142982	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.814000	0.27239	0.637000	0.30526	0.655000	0.94253	TTC		0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			12	696	1	0	7.93312e-07	0.000219431	2.45534e-05	12	696					A	54370394	C	A	54370394	3	1	75	1	0	0	0	0	1	0	0	0	4540	825	29	3	399	3	DIO1	1	54370394	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5505210	54370394	194880227	16	9411											
HSPB11	51668	broad.mit.edu	37	chr1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttaccaaagtaactttGgattacaagcctttcaatcc	5	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318																																						ENST00000194214.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(193-195)Caa>Aaa		heat shock protein family B (small), member 11							81	75	77					1																	54395724		1794	4060	5854	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395724G>T	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"Intraflagellar transport homologs", "Heat shock proteins / HSPB"	25019	protein-coding gene	gene with protein product	"intraflagellar transport 25 homolog (Chlamydomonas)"		"chromosome 1 open reading frame 41"	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.193C>A	1.37:g.54395724G>T	ENSP00000194214:p.Gln65Lys					HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K	p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN			3	582	-			65					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.193C>A	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798150	0.31777	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.237149	0.43260	D	0.000593	D	0.96614	0.8895	L	0.55103	1.725	0.40074	D	0.976054	B;B	0.28801	0.223;0.052	B;B	0.32724	0.151;0.038	D	0.95288	0.8392	10	0.13853	T	0.58	-16.6923	15.9014	0.79380	0.0:0.0:1.0:0.0	.	65;65	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	65	ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K	ENSP00000194214:Q65K	Q	-	1	0	HSPB11	54168312	1.000000	0.71417	0.831000	0.32960	0.703000	0.40648	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	CAA		0.318	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		9	373	1	0	1.58986e-06	0.000673444	4.62318e-05	9	373					T	54395724	G	T	54395724	3	4	75	1	0	0	0	0	1	0	0	0	7449	1357	47	3	257	3	HSPB11	1	54395724	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25330	54395724	194854897	17	9412											
LEPR	3953	broad.mit.edu	37	chr1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatcattttatccccattGagaagtaccagttcagtctt	6	10	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2413-2415)Gag>Tag		leptin receptor							74	74	74					1																	66085628		2203	4296	6499	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66085628G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2413G>T	1.37:g.66085628G>T	ENSP00000330393:p.Glu805*					LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*	p.E805*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	17	2598	+			805			Fibronectin type-III 4.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2413G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	44	10.974545	0.99497	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6903	19.9253	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000340884:E805X	E	+	1	0	LEPR	65858216	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.292000	0.65673	2.692000	0.91855	0.650000	0.86243	GAG		0.279	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		9	512	1	0	0.000151284	0.000151284	0.00252221	9	512					T	66085628	G	T	66085628	4	4	75	1	0	0	0	0	0	1	0	0	8759	1291	45	3	2471	3	LEPR	1	66085628	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11689904	66085628	183164993	18	9413											
DEPDC1	55635	broad.mit.edu	37	chr1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcacagcataacacacatCgagaaaaggtatgtatcatc	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1954-1956)cGa>cTa		DEP domain containing 1							56	51	52					1																	68944984		2203	4298	6501	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944984C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1955G>T	1.37:g.68944984C>A	ENSP00000412292:p.Arg652Leu					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L	p.R652L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2069	-			652			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1955G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981842	0.93044	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.40476	1.03;1.03	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.060315	0.64402	D	0.000001	T	0.61211	0.2329	M	0.76328	2.33	0.41882	D	0.990322	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.979	T	0.63651	-0.6589	10	0.66056	D	0.02	0.652	19.76	0.96311	0.0:1.0:0.0:0.0	.	652;368	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	L	652;368	ENSP00000412292:R652L;ENSP00000360005:R368L	ENSP00000360005:R368L	R	-	2	0	DEPDC1	68717572	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.996000	0.76263	2.670000	0.90874	0.585000	0.79938	CGA		0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		6	221	1	0	0.000157383	0.000157383	0.00254253	6	221					A	68944984	C	A	68944984	3	1	75	1	0	0	0	0	1	0	0	0	4455	884	31	3	492	3	DEPDC1	1	68944984	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2859356	68944984	180305637	19	9414											
LPHN2	23266	broad.mit.edu	37	chr1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttttgaaagtgaatattCaaggaaaaaatattactatg	7	2	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*			O95490	LPHN2_HUMAN	latrophilin 2	948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2842-2844)tCa>tAa		latrophilin 2							133	133	133					1																	82436119		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436119C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2843C>A	1.37:g.82436119C>A	ENSP00000359763:p.Ser948*					LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron	p.S948*			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3488	+			948					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.2843C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.738490|12.738490	0.99692|0.99692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32971|.	0.0847|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	3|.	.|0.02654	.|T	.|1	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	816|873;948;948;948;948;935;935;935;935;935;948;935;948;948	.|.	.|ENSP00000271029:S948X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82208707|82208707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		11	470	1	0	0.00010058	0.00010058	0.00173709	11	470					A	82436119	C	A	82436119	4	1	75	1	0	0	0	0	0	1	0	0	8954	838	29	3	2854	3	LPHN2	1	82436119	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13491135	82436119	166814502	20	9415											
HFM1	164045	broad.mit.edu	37	chr1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctctgcatttaaatgttCaataagatgtctgtgcaaac	6	7	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2092-2094)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							119	110	113					1																	91816409		1836	4089	5925	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91816409C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2092G>T	1.37:g.91816409C>A	ENSP00000359454:p.Glu698*					HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR	p.E698*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	18	2190	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	698			Helicase C-terminal.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.2092G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	40	8.503240	0.98838	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	.	.	.	5.32	4.4	0.53042	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7422	0.77910	0.1376:0.8624:0.0:0.0	.	.	.	.	X	698;377;382	.	ENSP00000359450:E382X	E	-	1	0	HFM1	91588997	1.000000	0.71417	0.986000	0.45419	0.768000	0.43524	7.720000	0.84759	1.355000	0.45865	0.460000	0.39030	GAA		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		10	440	1	0	4.36969e-10	0.000151284	1.67603e-08	10	440					A	91816409	C	A	91816409	4	1	75	1	0	0	0	0	0	1	0	0	7113	835	29	3	2303	3	HFM1	1	91816409	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9380290	91816409	157434212	21	9416											
ABCD3	5825	broad.mit.edu	37	chr1	94956786	94956786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatggagatgttttgatcCgagaccttaattttgaagta	9	5	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.R384R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1369-1371)Cga>Aga		ATP-binding cassette, sub-family D (ALD), member 3							51	53	52					1																	94956786		2202	4295	6497	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94956786C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1369C>A	1.37:g.94956786C>A						ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000536817.1_Silent_p.R384R	p.R457R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	16	1393	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	457			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1369C>A	CCDS749.1																																																																																				0.264	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		7	426	1	0	0.000442599	0.000442599	0.00556767	7	426					A	94956786	C	A	94956786	2	1	75	1	0	0	0	0	0	0	0	1	62	644	23	3		3	ABCD3	1	94956786	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3140377	94956786	154293835	22	9417											
DBT	1629	broad.mit.edu	37	chr1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcccaatttctggaggcGgttcagttcagtggcgatgt	14	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.4	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	376					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423																																						ENST00000370132.3																			1	Substitution - Missense(1)	p.R376S(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(1126-1128)Cgc>Agc		dihydrolipoamide branched chain transacylase E2							199	204	202					1																	100672084		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672084G>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1126C>A	1.37:g.100672084G>T	ENSP00000359151:p.Arg376Ser						p.R376S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1139	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	376					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1126C>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603745	0.87157	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.44083	0.93	5.84	5.84	0.93424	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.75020	0.88;0.985	T	0.66575	-0.5889	10	0.72032	D	0.01	-4.8811	20.1386	0.98045	0.0:0.0:1.0:0.0	.	195;376	F5H1F9;P11182	.;ODB2_HUMAN	S	195;376	ENSP00000359151:R376S	ENSP00000359151:R376S	R	-	1	0	DBT	100444672	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.348000	0.97062	2.767000	0.95098	0.561000	0.74099	CGC		0.423	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		12	1206	1	0	3.86212e-05	0.000673444	0.000778902	12	1206					T	100672084	G	T	100672084	3	4	75	1	0	0	0	0	1	0	0	0	4269	1116	39	3	334	3	DBT	1	100672084	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5715298	100672084	148578537	23	9418											
SLC30A7	148867	broad.mit.edu	37	chr1	101387303	101387303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatacacttggaagtattGgtgtaattgcttctgccatc	9	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:101387303G>T	ENST00000370112.4	+	8	935	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	250					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGAAGTATTGGTGTAATTGC	0.303																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(748-750)Ggt>Tgt		solute carrier family 30 (zinc transporter), member 7							169	159	163					1																	101387303		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101387303G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.748G>T	1.37:g.101387303G>T	ENSP00000359130:p.Gly250Cys					SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	8	935	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	250					B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.748G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471709	0.84533	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.67865	-0.29;-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90939	0.4796	10	0.66056	D	0.02	-8.6001	19.3501	0.94379	0.0:0.0:1.0:0.0	.	250	Q8NEW0	ZNT7_HUMAN	C	250	ENSP00000359130:G250C;ENSP00000350278:G250C	ENSP00000350278:G250C	G	+	1	0	SLC30A7	101159891	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.254000	0.95512	2.639000	0.89480	0.655000	0.94253	GGT		0.303	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		10	1041	1	0	1.58986e-06	0.000673444	4.62318e-05	10	1041					T	101387303	G	T	101387303	3	4	75	1	0	0	0	0	1	0	0	0	14610	1348	47	3	778	3	SLC30A7	1	101387303	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	715219	101387303	147863318	24	9419											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	7	13	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183	188	186					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		6	857	0	0	0	3.59834e-05	0	6	857					C	109369904	T	C	109369904	3	2	75	1	0	0	0	0	1	0	0	0	464	1609	56	4	675	4	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	7982601	109369904	139880717	25	9420											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144	130	135					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	740						7	740	---	---	---	---	-	109477407	T	-	109477407	7	5	75	1	0	1	0	1	0	0	0	0	3469	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	107503	109477407	139773214	26	9421											
PTPN22	26191	broad.mit.edu	37	chr1	114380531	114380531	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatatggcagtgaataattCagttctgctgaagaaacatg	9	6	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114380531C>A	ENST00000359785.5	-	13	1626	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L	PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000525799.1_Silent_p.L370L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	497					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAATAATTCAGTTCTGCTG	0.363																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1489-1491)ctG>ctT		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							123	118	120					1																	114380531		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380531C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1491G>T	1.37:g.114380531C>A						PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000525799.1_Silent_p.L370L	p.L497L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1626	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	497					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.1491G>T	CCDS863.1																																																																																				0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		9	481	1	0	0.000673444	0.000673444	0.00785517	9	481					A	114380531	C	A	114380531	2	1	75	1	0	0	0	0	0	0	0	1	12837	813	29	3		3	PTPN22	1	114380531	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4903124	114380531	134870090	27	9422											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	9	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74	81	78					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		6	336	0	0	0	3.59834e-05	0	6	336					A	114442814	G	A	114442814	3	1	75	1	0	0	0	0	1	0	0	0	751	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	62283	114442814	134807807	28	9423											
SEC22B	9554	broad.mit.edu	37	chr1	145109678	145109678	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgaccctattcctttattGaatttggtaagtttttgccc	6	11	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:145109678G>T	ENST00000453618.1	+	0	667							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTCCTTTATTGAATTTGGTAA	0.383																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							570	566	567					1																	145109678		1964	4150	6114			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109678G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109678G>T										O75396	SC22B_HUMAN			0	667	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.383	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		20	2414	1	0	0.000151284	0.000151284	0.00252221	20	2414					T	145109678	G	T	145109678	1	4	75	0	1	0	0	0	0	0	0	0	14039	1291	45	3		3	SEC22B	1	145109678	RNA	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	30666864	145109678	104140943	29	9424											
GJA8	2703	broad.mit.edu	37	chr1	147381108	147381108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgcagaggagggagcCgaacccgaggtgggagagaa	18	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1024-1026)gcC>gcT		gap junction protein, alpha 8, 50kDa							33	32	32					1																	147381108		2202	4299	6501	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381108C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1026C>T	1.37:g.147381108C>T						GJA8_ENST00000369235.1_Silent_p.A342A	p.A342A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1079	+	all_hematologic(923;0.0276)		342					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1026C>T	CCDS30834.1																																																																																				0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		3	27	0	0	0	6.4e-05	0	3	27					T	147381108	C	T	147381108	2	4	75	1	0	0	0	0	0	0	0	1	6434	639	23	1		1	GJA8	1	147381108	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2271430	147381108	101869513	30	9425											
TMOD4	79005	broad.mit.edu	37	chr1	151143009	151143009	+	IGR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actcacgtagttcattgtttCgggtcatggcctgggctgcc	12	11	3	0	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Missense_Mutation_p.R265L	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(793-795)cGa>cTa		tropomodulin 4 (muscle)							176	167	170					1																	151143009		2203	4300	6503	SO:0001628	intergenic_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151143009C>A	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143009C>A							p.R265L			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	893	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		334					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.794G>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087532	0.55968	.	.	ENSG00000163157	ENST00000295314;ENST00000416280	D;D	0.93859	-3.3;-3.3	5.88	4.0	0.46444	.	0.120572	0.52532	D	0.000062	D	0.92899	0.7741	M	0.86268	2.805	0.80722	D	1	D;P;B	0.56968	0.978;0.546;0.325	P;B;B	0.49752	0.621;0.226;0.176	D	0.93279	0.6658	10	0.87932	D	0	-20.417	9.6355	0.39804	0.0:0.7799:0.0:0.2201	.	265;334;334	B7Z6N9;Q9NZQ9;B2R891	.;TMOD4_HUMAN;.	L	334;265	ENSP00000295314:R334L;ENSP00000414180:R265L	ENSP00000295314:R334L	R	-	2	0	TMOD4	149409633	0.012000	0.17670	0.975000	0.42487	0.986000	0.74619	1.410000	0.34691	1.502000	0.48669	0.561000	0.74099	CGA		0.537	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		8	759	1	0	6.40141e-05	6.40141e-05	0.00117365	8	759					A	151143009	C	A	151143009	1	1	75	0	1	0	0	0	0	0	0	0	16288	884	31	3		3	TMOD4	1	151143009	IGR	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3761901	151143009	98107612	31	9426											
FLG	2312	broad.mit.edu	37	chr1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggtctgcagagtgccCgtgaccggctctgtcttcgt	15	12	3	2	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	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)			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)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis																													ENST00000368799.1																			0				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						c.(9793-9795)Ggg>Tgg		filaggrin							263	266	265					1																	152277569		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.chr1:152277569C>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.9793G>T	1.37:g.152277569C>A	ENSP00000357789:p.Gly3265Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3265W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9828	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3265			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9793G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	1429	1	0	0.000673444	0.000673444	0.00785517	11	1429					A	152277569	C	A	152277569	3	1	75	1	0	0	0	0	1	0	0	0	5947	652	23	3	2396	3	FLG	1	152277569	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1134560	152277569	96973052	32	9427											
FLG	2312	broad.mit.edu	37	chr1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacgaatggtgtcctgacCgtattgggatgctgagtgcc	13	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	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)			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)			GTGTCCTGACCGTATTGGGAT	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(9316-9318)Ggt>Tgt		filaggrin							195	253	235					1																	152278046		1968	4219	6187	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.chr1:152278046C>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.9316G>T	1.37:g.152278046C>A	ENSP00000357789:p.Gly3106Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3106C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9351	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3106			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9316G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393587	0.25205	.	.	ENSG00000143631	ENST00000368799	T	0.07800	3.16	4.17	-3.75	0.04372	.	.	.	.	.	T	0.05181	0.0138	M	0.77616	2.38	0.09310	N	1	D	0.60575	0.988	P	0.45639	0.488	T	0.18777	-1.0326	9	0.56958	D	0.05	.	8.0889	0.30788	0.0:0.2914:0.5653:0.1432	.	3106	P20930	FILA_HUMAN	C	3106	ENSP00000357789:G3106C	ENSP00000357789:G3106C	G	-	1	0	FLG	150544670	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.414000	0.07114	-0.500000	0.06614	0.449000	0.29647	GGT		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	1230	1	0	0.00010058	0.00010058	0.00173709	11	1230					A	152278046	C	A	152278046	3	1	75	1	0	0	0	0	1	0	0	0	5947	652	23	3	2873	3	FLG	1	152278046	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	477	152278046	96972575	33	9428											
SPRR2E	6704	broad.mit.edu	37	chr1	153066021	153066021	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctgttacttgctcttGggtggacactttggctggca	13	8	1	1	rs79132921	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153066021G>C	ENST00000368751.1	-	2	281	c.207C>G	c.(205-207)ccC>ccG	p.P69P	SPRR2E_ENST00000368750.3_Silent_p.P69P|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	69					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTGGGTGGACACT	0.522																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(205-207)ccC>ccG		small proline-rich protein 2E							248	239	242					1																	153066021		2203	4300	6503	SO:0001819	synonymous_variant	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066021G>C	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.207C>G	1.37:g.153066021G>C						SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Silent_p.P69P	p.P69P			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	281	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		69					Q5T9T4|Q96RM2	Silent	SNP	ENST00000368751.1	37	c.207C>G	CCDS30866.1																																																																																				0.522	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			9	849	0	0	0	0.000566183	0	9	849					C	153066021	G	C	153066021	2	2	75	1	0	0	0	0	0	0	0	1	15152	1335	47	5		5	SPRR2E	1	153066021	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	787975	153066021	96184600	34	9429											
S100A7	6278	broad.mit.edu	37	chr1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcacgtctggtgtatttgtGaaacatgtcgatcatgccta	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(52-54)Cac>Aac		S100 calcium binding protein A7							275	234	248					1																	153431438		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431438G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.52C>A	1.37:g.153431438G>T	ENSP00000357712:p.His18Asn					S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	162	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		18			EF-hand 1.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.52C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.809499	0.50421	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.15256	2.44;2.44	2.1	1.13	0.20643	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.17109	0.0411	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04855	-1.0922	9	0.72032	D	0.01	.	5.0686	0.14594	0.1839:0.0:0.8161:0.0	.	18	P31151	S10A7_HUMAN	N	18	ENSP00000357712:H18N;ENSP00000357711:H18N	ENSP00000357711:H18N	H	-	1	0	S100A7	151698062	0.007000	0.16637	0.003000	0.11579	0.749000	0.42624	0.739000	0.26173	0.441000	0.26529	0.194000	0.17425	CAC		0.438	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		11	562	1	0	0.000422831	0.000422831	0.00556767	11	562					T	153431438	G	T	153431438	3	4	75	1	0	0	0	0	1	0	0	0	13833	1290	45	3	261	3	S100A7	1	153431438	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	365417	153431438	95819183	35	9430											
ASH1L	55870	broad.mit.edu	37	chr1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgacttcgatgagtgatcCgaatttcacttaggcgactt	10	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3904-3906)cGg>cTg		ash1 (absent, small, or homeotic)-like (Drosophila)							100	105	103					1																	155448756		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448756C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3905G>T	1.37:g.155448756C>A	ENSP00000357330:p.Arg1302Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L	p.R1302L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4544	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1302					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3905G>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	ASH1L	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	560	1	0	6.40141e-05	6.40141e-05	0.00117365	10	560					A	155448756	C	A	155448756	3	1	75	1	0	0	0	0	1	0	0	0	1042	652	23	3	5093	3	ASH1L	1	155448756	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2017318	155448756	93801865	36	9431											
DCAF6	55827	broad.mit.edu	37	chr1	167921055	167921055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaagagaatttatcCaaagattaaaacttgaagca	8	5	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:167921055C>A	ENST00000312263.6	+	2	319	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K|DCAF6_ENST00000367840.3_Missense_Mutation_p.Q39K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	39					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAATTTATCCAAAGATTAAA	0.303																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(115-117)Caa>Aaa		DDB1 and CUL4 associated factor 6							48	52	51					1																	167921055		2201	4294	6495	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167921055C>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.115C>A	1.37:g.167921055C>A	ENSP00000311949:p.Gln39Lys					DCAF6_ENST00000312263.6_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K	p.Q39K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			2	209	+			39					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.115C>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234090	0.79688	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80738	-1.41;0.0;-1.41;-1.41	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.120335	0.56097	D	0.000022	T	0.80618	0.4657	L	0.27053	0.805	0.80722	D	1.000000	P;D;D;D	0.67145	0.924;0.982;0.987;0.996	P;D;P;D	0.72982	0.9;0.968;0.831;0.979	T	0.81667	-0.0829	9	0.45353	T	0.12	.	17.9178	0.88957	0.0:1.0:0.0:0.0	.	39;39;39;39	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	K	39	ENSP00000356817:Q39K;ENSP00000396238:Q39K;ENSP00000311949:Q39K;ENSP00000356814:Q39K	ENSP00000311949:Q39K	Q	+	1	0	DCAF6	166187679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.524000	0.85096	0.557000	0.71058	CAA		0.303	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		8	766	1	0	6.40141e-05	6.40141e-05	0.00117365	8	766					A	167921055	C	A	167921055	3	1	75	1	0	0	0	0	1	0	0	0	4285	595	21	3	121	3	DCAF6	1	167921055	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12472299	167921055	81329566	37	9432											
SEC16B	89866	broad.mit.edu	37	chr1	177913756	177913756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtactcgaagatttcCgtcctctggattgcctcagt	9	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					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.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483																																						ENST00000308284.6																			1	Substitution - coding silent(1)	p.T608T(1)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1819-1821)acG>acT		SEC16 homolog B (S. cerevisiae)							149	153	152					1																	177913756		1904	4130	6034	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913756C>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.1821G>T	1.37:g.177913756C>A						RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.T607T	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			15	1910	-			607					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1821G>T	CCDS44281.1																																																																																				0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		9	533	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	533					A	177913756	C	A	177913756	2	1	75	1	0	0	0	0	0	0	0	1	14037	639	23	3		3	SEC16B	1	177913756	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9992701	177913756	71336865	38	9433											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	699						7	699	---	---	---	---	-	182845333	T	-	182845333	7	5	75	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	4931577	182845333	66405288	39	9434											
FAM129A	116496	broad.mit.edu	37	chr1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgagatcctgcaggcgctCgtgaagcaggttgactttag	13	9	0	3	rs371190847		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1252-1254)Gag>Tag		family with sequence similarity 129, member A							105	110	108					1																	184777291		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777291C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1252G>T	1.37:g.184777291C>A	ENSP00000356481:p.Glu418*					FAM129A_ENST00000487074.1_5'UTR	p.E418*	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			10	1445	-			418					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.1252G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	FAM129A	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG		0.517	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			9	387	1	0	0.000442599	0.000442599	0.00556767	9	387					A	184777291	C	A	184777291	4	1	75	1	0	0	0	0	0	1	0	0	5457	893	31	3	1554	3	FAM129A	1	184777291	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1931958	184777291	64473330	40	9435											
ASPM	259266	broad.mit.edu	37	chr1	197062302	197062302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcgtatatatttttgtatGatcaaagcagcagatttctg	8	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197062302G>T	ENST00000367409.4	-	21	9430	c.9174C>A	c.(9172-9174)atC>atA	p.I3058I	ASPM_ENST00000367408.1_Silent_p.I723I|ASPM_ENST00000294732.7_Silent_p.I1473I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3058	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTTGTATGATCAAAGCAG	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9172-9174)atC>atA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							72	77	75					1																	197062302		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062302G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9174C>A	1.37:g.197062302G>T						ASPM_ENST00000367408.1_Silent_p.I723I|ASPM_ENST00000294732.7_Silent_p.I1473I	p.I3058I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			21	9430	-			3058			IQ 36.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9174C>A	CCDS1389.1																																																																																				0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	578	1	0	0.000442599	0.000442599	0.00556767	10	578					T	197062302	G	T	197062302	2	4	75	1	0	0	0	0	0	0	0	1	1057	1280	45	3		3	ASPM	1	197062302	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12285011	197062302	52188319	41	9436											
ASPM	259266	broad.mit.edu	37	chr1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgatgctgctttattttGaactttttccagcttttcct	6	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4039-4041)Caa>Aaa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114	123	120					1																	197086945		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197086945G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4039C>A	1.37:g.197086945G>T	ENSP00000356379:p.Gln1347Lys					ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K	p.Q1347K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			17	4295	-			1347			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4039C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569453	0.13560	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70282	0.3;-0.47;-0.47	5.72	4.79	0.61399	.	0.624908	0.15769	N	0.245535	T	0.67382	0.2887	M	0.76574	2.34	0.09310	N	1	B;B	0.27765	0.001;0.188	B;B	0.22880	0.003;0.042	T	0.55425	-0.8143	10	0.15952	T	0.53	.	12.3172	0.54964	0.0:0.0:0.6346:0.3654	.	1347;1347	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1347;1347;597	ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K	ENSP00000294732:Q1347K	Q	-	1	0	ASPM	195353568	0.978000	0.34361	0.019000	0.16419	0.325000	0.28411	2.287000	0.43505	1.384000	0.46424	0.557000	0.71058	CAA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	798	1	0	0.00010058	0.00010058	0.00173709	12	798					T	197086945	G	T	197086945	3	4	75	1	0	0	0	0	1	0	0	0	1057	1299	45	3	6442	3	ASPM	1	197086945	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	24643	197086945	52163676	42	9437											
CACNA1S	779	broad.mit.edu	37	chr1	201019522	201019522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagattggactcacttagcCtctgggtcatactctgccca	8	13	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					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)			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)	CTCACTTAGCCTCTGGGTCAT	0.532																																						ENST00000362061.3																			0				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						c.(4234-4236)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						85	82	83					1																	201019522		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.chr1:201019522C>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.4236G>A	1.37:g.201019522C>T						CACNA1S_ENST00000367338.3_Silent_p.E1393E	p.E1412E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			34	4462	-			1412					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.4236G>A	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		25	223	0	0	0	0.00047179	0	25	223					T	201019522	C	T	201019522	2	4	75	1	0	0	0	0	0	0	0	1	2554	680	24	2		2	CACNA1S	1	201019522	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3932577	201019522	48231099	43	9438											
RCOR3	55758	broad.mit.edu	37	chr1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaggtggaattgaagaattCaaacctcctgaggtatgtta	11	5	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(829-831)ttC>ttA		REST corepressor 3							110	108	109					1																	211469083		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211469083C>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.831C>A	1.37:g.211469083C>A	ENSP00000355972:p.Phe277Leu					RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	p.F277L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	8	972	+			277					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.831C>A	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.201|9.201	1.028368|1.028368	0.19512|0.19512	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Homeodomain-like (1);|.	0.197157|.	0.56097|.	D|.	0.000037|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.10837|0.10837	0.055|0.055	0.48762|0.48762	D|D	0.999706|0.999706	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.003|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.05833|.	T|.	0.94|.	-8.0213|-8.0213	17.0544|17.0544	0.86529|0.86529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;277;335;335|.	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|.	.;RCOR3_HUMAN;.;.|.	L|K	335;335;335;277;95|122	ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|.	ENSP00000355972:F277L|.	F|Q	+|+	3|1	2|0	RCOR3|RCOR3	209535706|209535706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.693000|3.693000	0.54735|0.54735	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.353	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		7	262	1	0	2.17888e-05	0.000442599	0.00047966	7	262					A	211469083	C	A	211469083	3	1	75	1	0	0	0	0	1	0	0	0	13234	825	29	3	1039	3	RCOR3	1	211469083	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10449561	211469083	37781538	44	9439											
FLVCR1	28982	broad.mit.edu	37	chr1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttacctccctttgggttttGaatttgctgttgaaatcact	8	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGTTTTGAATTTGCTGT	0.383																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1342-1344)Gaa>Taa		feline leukemia virus subgroup C cellular receptor 1							204	188	194					1																	213061865		2203	4300	6503	SO:0001587	stop_gained	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213061865G>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1342G>T	1.37:g.213061865G>T	ENSP00000355938:p.Glu448*					FLVCR1_ENST00000483790.1_3'UTR	p.E448*	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	7	1540	+			448					Q1HE16|Q86XY9|Q9NVR9	Nonsense_Mutation	SNP	ENST00000366971.4	37	c.1342G>T	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.416920|6.416920	0.97550|0.97550	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.87932|.	D|.	0|.	-27.963|-27.963	19.5996|19.5996	0.95554|0.95554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	448|246	.|.	ENSP00000355938:E448X|.	E|L	+|+	1|3	0|2	FLVCR1|FLVCR1	211128488|211128488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.238000|9.238000	0.95380|0.95380	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.383	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		9	462	1	0	2.27111e-07	0.00010058	7.55265e-06	9	462					T	213061865	G	T	213061865	4	4	75	1	0	0	0	0	0	1	0	0	5970	1291	45	3	1368	3	FLVCR1	1	213061865	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1592782	213061865	36188756	45	9440											
TGFB2	7042	broad.mit.edu	37	chr1	218578555	218578555	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaccctacttcagaattgttCgatttgacgtctcagcaatg	8	10	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:218578555C>A	ENST00000366930.4	+	2	858	c.391C>A	c.(391-393)Cga>Aga	p.R131R	TGFB2_ENST00000366929.4_Silent_p.R159R	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	131					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R131*(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGAATTGTTCGATTTGACGT	0.418																																						ENST00000366929.4																			1	Substitution - Nonsense(1)	p.R131*(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(475-477)Cga>Aga		transforming growth factor, beta 2							231	223	226					1																	218578555		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218578555C>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.391C>A	1.37:g.218578555C>A						TGFB2_ENST00000366930.4_Silent_p.R131R	p.R159R	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	3	942	+			131					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.475C>A	CCDS1521.1																																																																																				0.418	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		14	1075	1	0	1.49906e-05	0.000219431	0.000353665	14	1075					A	218578555	C	A	218578555	2	1	75	1	0	0	0	0	0	0	0	1	15870	876	31	3		3	TGFB2	1	218578555	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5516690	218578555	30672066	46	9441											
ACBD3	64746	broad.mit.edu	37	chr1	226352490	226352491	+	Splice_Site	INS	-	-	T													ccatgccctcaaacttcaccINStttttttttcttgctcttcc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	9	451						9	451	---	---	---	---	T	226352491	-	T	226352490	8	5	75	1	0	1	1	0	0	0	1	0	123	695	24	0	1041	0	ACBD3	1	226352490	Splice_Site	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	7773935	226352490	22898131	47	9442											
URB2	9816	broad.mit.edu	37	chr1	229763469	229763469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactagctcactttgcttGgatttctcaccagtgctttc	6	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:229763469G>T	ENST00000258243.2	+	2	225	c.89G>T	c.(88-90)tGg>tTg	p.W30L	TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000477957.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	30						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTTTGCTTGGATTTCTCAC	0.338																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(88-90)tGg>tTg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							99	111	107					1																	229763469		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229763469G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.89G>T	1.37:g.229763469G>T	ENSP00000258243:p.Trp30Leu						p.W30L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			2	225	+			30					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.89G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169822	0.78452	.	.	ENSG00000135763	ENST00000258243	T	0.75938	-0.98	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79150	-0.1922	9	.	.	.	-14.7331	18.8725	0.92320	0.0:0.0:1.0:0.0	.	30	Q14146	URB2_HUMAN	L	30	ENSP00000258243:W30L	.	W	+	2	0	URB2	227830092	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.968000	0.70413	2.525000	0.85131	0.561000	0.74099	TGG		0.338	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	542	1	0	3.86212e-05	0.000673444	0.000778902	8	542					T	229763469	G	T	229763469	3	4	75	1	0	0	0	0	1	0	0	0	17079	1357	47	3	91	3	URB2	1	229763469	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3410979	229763469	19487152	48	9443											
LYST	1130	broad.mit.edu	37	chr1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatcatggtttctagcgctCgtctctgaactggatcttca	8	10	5	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000389793.2_Missense_Mutation_p.R3398L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10192-10194)cGa>cTa		lysosomal trafficking regulator							139	141	140					1																	235866228		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866228C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10193G>T	1.37:g.235866228C>A	ENSP00000374444:p.Arg3398Leu					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L	p.R3398L			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3398			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10193G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	LYST	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			11	688	1	0	0.000673444	0.000673444	0.00785517	11	688					A	235866228	C	A	235866228	3	1	75	1	0	0	0	0	1	0	0	0	9167	884	31	3	1248	3	LYST	1	235866228	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6102759	235866228	13384393	49	9444											
TPO	7173	broad.mit.edu	37	chr2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttctgcggcctgcctcGcctggagacccccgctgacc	13	17	1	2	rs375314609		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)cGc>cAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	52	48	49		1805,1805,1634,1634,1805,1286	4	0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497610	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497610G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1805G>A	2.37:g.1497610G>A	ENSP00000318820:p.Arg602His					TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H	p.R602H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1896	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	602					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1805G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	TPO|TPO	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		23	115	0	0	0	0.000586117	0	23	115					A	1497610	G	A	1497610	3	1	75	1	0	0	0	0	1	0	0	0	16463	1087	38	1	1843	1	TPO	2	1497610	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		1497610	241701763	50	9445											
GEN1	348654	broad.mit.edu	37	chr2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttcagaattgttaagactcGaatcagaaatggagttcatt	8	5	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1216-1218)cGa>cTa	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							79	86	84					2																	17959283		2199	4269	6468	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17959283G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1217G>T	2.37:g.17959283G>T	ENSP00000370653:p.Arg406Leu					GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	p.R406L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			12	1431	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		406					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1217G>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449211	0.84101	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	T	0.66723	0.2818	M	0.76002	2.32	0.50467	D	0.999871	D	0.89917	1.0	D	0.85130	0.997	T	0.70238	-0.4927	10	0.87932	D	0	-14.2737	18.7563	0.91833	0.0:0.0:1.0:0.0	.	406	Q17RS7	GEN_HUMAN	L	406;406;177;43	ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L	ENSP00000318977:R406L	R	+	2	0	GEN1	17822764	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	4.945000	0.63568	2.601000	0.87937	0.655000	0.94253	CGA		0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		11	653	1	0	6.40141e-05	6.40141e-05	0.00117365	11	653					T	17959283	G	T	17959283	3	4	75	1	0	0	0	0	1	0	0	0	6364	1058	37	3	1259	3	GEN1	2	17959283	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16461673	17959283	225240090	51	9446											
RASGRP3	25780	broad.mit.edu	37	chr2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atttggatcttggtttgattCgtatgactgaggaatttcgg	12	4	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423																																						ENST00000403687.3																			2	Substitution - Missense(2)	p.R97S(2)	urinary_tract(1)|lung(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(289-291)Cgt>Agt		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							258	252	254					2																	33745672		1894	4112	6006	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.chr2:33745672C>A	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.289C>A	2.37:g.33745672C>A	ENSP00000384192:p.Arg97Ser					RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S	p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1029	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.289C>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	RASGRP3	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT		0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		10	844	1	0	0.000442599	0.000442599	0.00556767	10	844					A	33745672	C	A	33745672	3	1	75	1	0	0	0	0	1	0	0	0	13126	884	31	3	303	3	RASGRP3	2	33745672	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15786389	33745672	209453701	52	9447											
PLEKHH2	130271	broad.mit.edu	37	chr2	43924402	43924402	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctttgggtgctttttatctCgagcaaggagtcctcctcaa	9	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTTTATCTCGAGCAAGGAG	0.428																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(595-597)Cga>Aga		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							118	118	118					2																	43924402		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924402C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.595C>A	2.37:g.43924402C>A							p.R199R	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			7	705	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	199					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.595C>A	CCDS1812.1																																																																																				0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		12	532	1	0	0.000219431	0.000219431	0.00342116	12	532					A	43924402	C	A	43924402	2	1	75	1	0	0	0	0	0	0	0	1	12119	876	31	3		3	PLEKHH2	2	43924402	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10178730	43924402	199274971	53	9448											
SRBD1	55133	broad.mit.edu	37	chr2	45826684	45826684	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggatatgtctcagtcttGattttctttaaagcggactg	10	6	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(550-552)atC>atA		S1 RNA binding domain 1							254	243	247					2																	45826684		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826684G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.552C>A	2.37:g.45826684G>T							p.I184I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	614	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	184					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.552C>A	CCDS1823.1																																																																																				0.448	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		10	801	1	0	0.000673444	0.000673444	0.00785517	10	801					T	45826684	G	T	45826684	2	4	75	1	0	0	0	0	0	0	0	1	15185	1280	45	3		3	SRBD1	2	45826684	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1902282	45826684	197372689	54	9449											
NRXN1	9378	broad.mit.edu	37	chr2	50765565	50765565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacttcagccatttgccGgatatctttgctttggccat	8	10	2	1	rs200844126		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000406316.2	-	10	3445	c.1969C>A	c.(1969-1971)Cgg>Agg	p.R657R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000404971.1_Silent_p.R697R|NRXN1_ENST00000401669.2_Silent_p.R657R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			GCCATTTGCCGGATATCTTTG	0.502																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2089-2091)Cgg>Agg		neurexin 1							262	273	269					2																	50765565		2194	4294	6488	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765565G>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.1969C>A	2.37:g.50765565G>T						NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R	p.R697R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3428	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	657			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2089C>A	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			12	1285	1	0	0.000274275	0.000274275	0.0039602	12	1285					T	50765565	G	T	50765565	2	4	75	1	0	0	0	0	0	0	0	1	10707	1115	39	3		3	NRXN1	2	50765565	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4938881	50765565	192433808	55	9450											
CCDC85A	114800	broad.mit.edu	37	chr2	56419683	56419683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctggatgatgaccgGcagaaaggcaagagggtgtc	15	7	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)cgG>cgA		coiled-coil domain containing 85A							75	82	80					2																	56419683		1972	4162	6134	SO:0001819	synonymous_variant	114800							g.chr2:56419683G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.348G>A	2.37:g.56419683G>A						RP11-482H16.1_ENST00000607540.1_RNA	p.R116R	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	850	+			116						Silent	SNP	ENST00000407595.2	37	c.348G>A	CCDS46290.1																																																																																				0.532	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	287	0	0	0	0.000602214	0	5	287					A	56419683	G	A	56419683	2	1	75	1	0	0	0	0	0	0	0	1	2866	1190	42	2		2	CCDC85A	2	56419683	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5654118	56419683	186779690	56	9451											
AHSA2	9736	broad.mit.edu	37	chr2	61412663	61412663	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatctccagtggcactGggtgtaaggattcccactgt	11	12	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000398571.2	-	0	11357				AHSA2_ENST00000410073.1_Silent_p.L34L|AHSA2_ENST00000394457.3_Silent_p.L34L|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						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)			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)			CAGTGGCACTGGGTGTAAGGA	0.458																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(100-102)ctG>ctT		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							161	147	152					2																	61412663		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61412663G>T	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		2.37:g.61412663G>T						AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	p.L34L	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		4	1845	+			196					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.102G>T	CCDS42686.1																																																																																				0.458	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			10	547	1	0	2.17888e-05	0.000442599	0.00047966	10	547					T	61412663	G	T	61412663	1	4	75	0	1	0	0	0	0	0	0	0	419	1335	47	3		3	AHSA2	2	61412663	IGR	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4992980	61412663	181786710	57	9452											
PCYOX1	51449	broad.mit.edu	37	chr2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actatgccttcagtagtgtcGaaaaattacttcatgctcta	6	9	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(538-540)Gaa>Taa		prenylcysteine oxidase 1							140	135	136					2																	70502134		2203	4300	6503	SO:0001587	stop_gained	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502134G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.538G>T	2.37:g.70502134G>T	ENSP00000387654:p.Glu180*					PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*	p.E180*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			4	566	+			180					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	ENST00000433351.2	37	c.538G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	36	5.695587	0.96802	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	.	.	.	5.4	5.4	0.78164	.	0.044521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.5204	17.9005	0.88902	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;103;180;180;103;102	.	ENSP00000264441:E180X	E	+	1	0	PCYOX1	70355638	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	9.581000	0.98210	2.811000	0.96726	0.555000	0.69702	GAA		0.423	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		12	557	1	0	6.40141e-05	6.40141e-05	0.00117365	12	557					T	70502134	G	T	70502134	4	4	75	1	0	0	0	0	0	1	0	0	11650	1059	37	3	552	3	PCYOX1	2	70502134	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9089471	70502134	172697239	58	9453											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctaaagaggatgcatatGaatataaaaagcgtttaacc	7	6	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1357-1359)Gaa>Taa		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							166	180	175					2																	71368410		2203	4300	6503	SO:0001587	stop_gained	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368410G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1357G>T	2.37:g.71368410G>T	ENSP00000244230:p.Glu453*						p.E453*	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			7	1709	+			453					A0AVJ8	Nonsense_Mutation	SNP	ENST00000244230.2	37	c.1357G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	42	9.318101	0.99135	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	.	.	.	5.52	5.52	0.82312	.	0.151884	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	.	.	.	X	453;313	.	ENSP00000244230:E453X	E	+	1	0	MPHOSPH10	71221918	1.000000	0.71417	0.944000	0.38274	0.985000	0.73830	5.629000	0.67798	2.769000	0.95229	0.491000	0.48974	GAA		0.363	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		11	883	1	0	1.5842e-08	0.000151284	5.6922e-07	11	883					T	71368410	G	T	71368410	4	4	75	1	0	0	0	0	0	1	0	0	9766	1291	45	3	1383	3	MPHOSPH10	2	71368410	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	866276	71368410	171830963	59	9454											
MRPL35	51318	broad.mit.edu	37	chr2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctttacaggaatcctacGgcccctgaatattttggcat	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(52-54)cGg>cTg		mitochondrial ribosomal protein L35							137	135	136					2																	86433238		2203	4300	6503	SO:0001583	missense	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433238G>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.53G>T	2.37:g.86433238G>T	ENSP00000338389:p.Arg18Leu					MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L	p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			2	87	+			18					A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	c.53G>T	CCDS1988.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297990	0.81025	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.17054	2.31;2.57;2.3	5.62	5.62	0.85841	.	0.049873	0.85682	D	0.000000	T	0.42966	0.1226	M	0.75264	2.295	0.43168	D	0.994969	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.66056	D	0.02	-10.9098	15.5672	0.76303	0.0:0.0:1.0:0.0	.	18	Q9NZE8	RM35_HUMAN	L	18	ENSP00000254644:R18L;ENSP00000338389:R18L;ENSP00000386255:R18L	ENSP00000254644:R18L	R	+	2	0	MRPL35	86286749	0.967000	0.33354	0.992000	0.48379	0.914000	0.54420	3.300000	0.51834	2.820000	0.97059	0.650000	0.86243	CGG		0.368	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		8	701	1	0	0.000274275	0.000274275	0.0039602	8	701					T	86433238	G	T	86433238	3	4	75	1	0	0	0	0	1	0	0	0	9839	1116	39	3	59	3	MRPL35	2	86433238	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15064828	86433238	156766135	60	9455											
TEKT4	150483	broad.mit.edu	37	chr2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcaggaacacaacgtggCggcactgaagcaggccatca	12	11	2	2	rs112344899		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		20016	0.001		0.0	False		,,,				2504	0.0					ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(973-975)gCg>gTg		tektin 4							194	161	172					2																	95541370		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95541370C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	2.37:g.95541370C>T	ENSP00000295201:p.Ala325Val					AC097374.2_ENST00000568768.1_RNA	p.A325V	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			5	1111	+			325						Missense_Mutation	SNP	ENST00000295201.4	37	c.974C>T	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		33	278	0	0	0	0.000339439	0	33	278					T	95541370	C	T	95541370	3	4	75	1	0	0	0	0	1	0	0	0	15807	768	27	1	992	1	TEKT4	2	95541370	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9108132	95541370	147658003	61	9456											
ANKRD36B	57730	broad.mit.edu	37	chr2	98177188	98177188	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atttgaaacagaatctttgtCgtcacttgtagcctgaatgg	9	7	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:98177188C>A	ENST00000443455.1	-	0	915							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GAATCTTTGTCGTCACTTGTA	0.323																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							78	83	81					2																	98177188		1013	2192	3205			57730							g.chr2:98177188C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177188C>A										Q8N2N9	AN36B_HUMAN			0	915	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.323	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		8	436	1	0	6.40141e-05	6.40141e-05	0.00117365	8	436					A	98177188	C	A	98177188	1	1	75	0	1	0	0	0	0	0	0	0	666	884	31	3		3	ANKRD36B	2	98177188	RNA	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2635818	98177188	145022185	62	9457											
SULT1C3	442038	broad.mit.edu	37	chr2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-													gaaaaacgctcccacgatggAaaaaaagccagaactgttta							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000376700.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90	96	94					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs	p.E12fs			Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		7	646						7	646	---	---	---	---	-	108863685	A	-	108863685	7	5	75	1	0	1	0	1	0	0	0	0	15430	246	9	0	37	0	SULT1C3	2	108863685	Frame_Shift_Del	DEL	A	TCGA-HZ-A77Q-01A-11D-A36O-08	10686497	108863685	134335688	63	9458											
MKI67IP	84365	broad.mit.edu	37	chr2	122488581	122488581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgttagtgtccgattcCgattataccgtttcactgat	8	8	1	1	rs182148570		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:122488581C>A	ENST00000285814.4	-	4	524	c.452G>T	c.(451-453)cGg>cTg	p.R151L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		151					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R151L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGTCCGATTCCGATTATACCG	0.353																																						ENST00000285814.4																			1	Substitution - Missense(1)	p.R151L(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(451-453)cGg>cTg									110	107	108					2																	122488581		2203	4299	6502	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122488581C>A																												ENST00000285814.4:c.452G>T	2.37:g.122488581C>A	ENSP00000285814:p.Arg151Leu						p.R151L	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			4	524	-			151					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.452G>T	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791026	0.31685	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000447132;ENST00000451734	T;T;T	0.46451	2.33;0.87;1.48	5.65	-0.183	0.13284	.	0.805371	0.11532	N	0.554599	T	0.29223	0.0727	L	0.32530	0.975	0.09310	N	1	B;B	0.32040	0.353;0.2	B;B	0.28991	0.097;0.029	T	0.15037	-1.0451	10	0.62326	D	0.03	-1.0E-4	8.7795	0.34783	0.0:0.2839:0.0:0.7161	.	151;151	B4DSM4;Q9BYG3	.;MK67I_HUMAN	L	151;151;46;119	ENSP00000285814:R151L;ENSP00000406227:R46L;ENSP00000398116:R119L	ENSP00000285814:R151L	R	-	2	0	MKI67IP	122205051	0.009000	0.17119	0.002000	0.10522	0.687000	0.40016	0.009000	0.13219	-0.249000	0.09569	-0.345000	0.07892	CGG		0.353	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			10	578	1	0	2.17888e-05	0.000442599	0.00047966	10	578					A	122488581	C	A	122488581	3	1	75	1	0	0	0	0	1	0	0	0	9640	652	23	3	445	3	MKI67IP	2	122488581	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13624896	122488581	120710792	64	9459											
LRP1B	53353	broad.mit.edu	37	chr2	141816539	141816539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatatcagtcccattaaatcGgtttatccttacgatattgt	5	8	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					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)			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)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(1321-1323)Cga>Aga		low density lipoprotein receptor-related protein 1B							102	105	104					2																	141816539		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816539G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1321C>A	2.37:g.141816539G>T		TSP Lung(27;0.18)					p.R441R	NM_018557.2	NP_061027.2	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)	9	2292	-		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)	441					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1321C>A	CCDS2182.1																																																																																				0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	494	1	0	1.58986e-06	0.000673444	4.62318e-05	11	494					T	141816539	G	T	141816539	2	4	75	1	0	0	0	0	0	0	0	1	8993	1124	39	3		3	LRP1B	2	141816539	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	19327958	141816539	101382834	65	9460											
LRP1B	53353	broad.mit.edu	37	chr2	141946086	141946086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaattacaaacaaagatcCggtcaccgacatggtccaca	8	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141946086C>A	ENST00000389484.3	-	7	1888	c.917G>T	c.(916-918)cGg>cTg	p.R306L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					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.R306Q(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)		AACAAAGATCCGGTCACCGAC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.R306Q(1)	lung(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						c.(916-918)cGg>cTg		low density lipoprotein receptor-related protein 1B							108	96	100					2																	141946086		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141946086C>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.917G>T	2.37:g.141946086C>A	ENSP00000374135:p.Arg306Leu	TSP Lung(27;0.18)					p.R306L	NM_018557.2	NP_061027.2	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)	7	1888	-		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)	306					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.917G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146250	0.77888	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073163	0.53938	U	0.000060	D	0.94814	0.8325	M	0.82823	2.61	0.35523	D	0.801614	P	0.40970	0.734	B	0.43155	0.41	D	0.96461	0.9341	10	0.30078	T	0.28	.	15.1366	0.72572	0.0:0.8583:0.1417:0.0	.	306	Q9NZR2	LRP1B_HUMAN	L	306;244	ENSP00000374135:R306L	ENSP00000374135:R306L	R	-	2	0	LRP1B	141662556	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.923000	0.48868	2.406000	0.81754	0.655000	0.94253	CGG		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	422	1	0	6.40141e-05	6.40141e-05	0.00117365	10	422					A	141946086	C	A	141946086	3	1	75	1	0	0	0	0	1	0	0	0	8993	652	23	3	13222	3	LRP1B	2	141946086	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	129547	141946086	101253287	66	9461											
ARHGAP15	55843	broad.mit.edu	37	chr2	144314047	144314047	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagttaagatttattgtCaaccaaggtaagtgatttcc	8	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(994-996)gtC>gtA		Rho GTPase activating protein 15							166	171	169					2																	144314047		2203	4297	6500	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144314047C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.996C>A	2.37:g.144314047C>A						RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	p.V332V	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1163	+			332			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.996C>A	CCDS2184.1																																																																																				0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	807	1	0	3.99206e-14	9.7654e-05	1.5897e-12	15	807					A	144314047	C	A	144314047	2	1	75	1	0	0	0	0	0	0	0	1	866	813	29	3		3	ARHGAP15	2	144314047	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2367961	144314047	98885326	67	9462											
ACVR2A	92	broad.mit.edu	37	chr2	148657040	148657041	+	Frame_Shift_Ins	INS	-	-	A													ttataggactgattgtgtagINSaaaaaaaagacagccctgaa							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:148657040_148657041insA	ENST00000241416.7	+	3	913_914	c.277_278insA	c.(277-279)gaafs	p.E93fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.E93fs|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(277-279)aaafs		activin A receptor, type IIA																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657040_148657041insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.285dupA	2.37:g.148657048_148657048dupA	ENSP00000241416:p.Glu93fs					AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs|ACVR2A_ENST00000535787.1_5'UTR	p.K93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	913_914	+			93					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.277_278insA	CCDS33301.1																																																																																				0.302	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		7	584						7	584	---	---	---	---	A	148657041	-	A	148657040	7	5	75	1	0	1	1	0	0	0	0	0	223	943	33	0	287	0	ACVR2A	2	148657040	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	4342993	148657040	94542333	68	9463											
NEB	4703	broad.mit.edu	37	chr2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccacaccagggaattcacCgatcacttttccagccaggt	7	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000172853.10	-	91	13684	c.13537G>T	c.(13537-13539)Ggt>Tgt	p.G4513C	NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C|NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C			P20929	NEBU_HUMAN	nebulin	4513					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)			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)		GGGAATTCACCGATCACTTTT	0.438																																						ENST00000427231.2																			0				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						c.(18640-18642)Ggt>Tgt		nebulin							332	311	317					2																	152420173		1920	4137	6057	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.chr2:152420173C>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.13537G>T	2.37:g.152420173C>A	ENSP00000172853:p.Gly4513Cys					NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C|NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C	p.G6214C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18842	-			6196					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18640G>T		.	.	.	.	.	.	.	.	.	.	C	16.83	3.232555	0.58777	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.3;3.28;3.29;3.27;3.3	5.54	-1.62	0.08372	.	0.415688	0.27258	N	0.020192	T	0.13030	0.0316	L	0.60067	1.865	0.09310	N	1	P;P	0.50066	0.92;0.931	P;P	0.52909	0.713;0.696	T	0.06588	-1.0818	10	0.62326	D	0.03	.	7.5055	0.27542	0.0:0.2894:0.1079:0.6027	.	4513;944	P20929;Q14215	NEBU_HUMAN;.	C	4513;6214;6214;562;944;4513	ENSP00000386259:G4513C;ENSP00000380505:G6214C;ENSP00000416578:G6214C;ENSP00000410961:G944C;ENSP00000172853:G4513C	ENSP00000172853:G4513C	G	-	1	0	NEB	152128419	0.952000	0.32445	0.428000	0.26697	0.966000	0.64601	1.256000	0.32921	-0.425000	0.07371	-0.262000	0.10625	GGT		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		11	1023	1	0	0.000673444	0.000673444	0.00785517	11	1023					A	152420173	C	A	152420173	3	1	75	1	0	0	0	0	1	0	0	0	10344	652	23	3	7302	3	NEB	2	152420173	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3763133	152420173	90779200	69	9464											
NEB	4703	broad.mit.edu	37	chr2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcatcttcaatgttcCgggctccaatgtggtggccg	14	10	3	0	rs201965465		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000172853.10	-	65	9302	c.9155G>T	c.(9154-9156)cGg>cTg	p.R3052L	NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L			P20929	NEBU_HUMAN	nebulin	3052					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)			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)		TTCAATGTTCCGGGCTCCAAT	0.438																																						ENST00000427231.2																			0				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						c.(9883-9885)cGg>cTg		nebulin							243	228	233					2																	152484296		1901	4118	6019	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.chr2:152484296C>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.9155G>T	2.37:g.152484296C>A	ENSP00000172853:p.Arg3052Leu					NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L	p.R3295L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	69	10086	-			3295					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9884G>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	NEB	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	1158	1	0	1.12685e-05	0.000274275	0.000275198	10	1158					A	152484296	C	A	152484296	3	1	75	1	0	0	0	0	1	0	0	0	10344	652	23	3	16258	3	NEB	2	152484296	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	64123	152484296	90715077	70	9465											
MARCH7	64844	broad.mit.edu	37	chr2	160605292	160605292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgggagtaatttgacCgacaatgtcatgatcacagt	10	8	2	2	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1489-1491)acC>acA		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							176	193	187					2																	160605292		2203	4300	6503	SO:0001819	synonymous_variant	64844						ligase activity|zinc ion binding	g.chr2:160605292C>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1491C>A	2.37:g.160605292C>A						MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T	p.T497T	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1613	+			497					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	c.1491C>A	CCDS2210.1																																																																																				0.423	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		12	1096	1	0	0.000673444	0.000673444	0.00785517	12	1096					A	160605292	C	A	160605292	2	1	75	1	0	0	0	0	0	0	0	1	9347	639	23	3		3	MARCH7	2	160605292	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8120996	160605292	82594081	71	9466											
SCN9A	6335	broad.mit.edu	37	chr2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttatcttctttttctgttGgttgaaattatctatgatga	6	5	4	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000409435.1	-	23	4383	c.4384C>A	c.(4384-4386)Caa>Aaa	p.Q1462K	SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCTGTTGGTTGAAATTA	0.264																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4387-4389)Caa>Aaa		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						42	42	42					2																	167083091		2080	4252	6332	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167083091G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4384C>A	2.37:g.167083091G>T	ENSP00000386330:p.Gln1462Lys					SCN9A_ENST00000409435.1_Missense_Mutation_p.Q1462K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|AC010127.3_ENST00000447809.2_RNA	p.Q1463K			Q15858	SCN9A_HUMAN			24	4727	-			1462					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4387C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628730	0.87560	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.97895	0.9308	M	0.80847	2.515	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.98554	1.0638	10	0.87932	D	0	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	1451	E7EUN6	.	K	1451;1463;1463;1462	ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K	ENSP00000304748:Q1463K	Q	-	1	0	SCN9A	166791337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.559000	0.86315	0.591000	0.81541	CAA		0.264	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	144	1	0	0.000157383	0.000157383	0.00254253	6	144					T	167083091	G	T	167083091	3	4	75	1	0	0	0	0	1	0	0	0	13975	1357	47	3	1598	3	SCN9A	2	167083091	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6477799	167083091	76116282	72	9467											
SLC25A12	8604	broad.mit.edu	37	chr2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggagcacataaaacagattCaaatgccaaaaactcttgat	6	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(241-243)Gaa>Taa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						148	150	149					2																	172712428		2203	4300	6503	SO:0001587	stop_gained	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172712428C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.241G>T	2.37:g.172712428C>A	ENSP00000388658:p.Glu81*					SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	p.E81*	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	278	-			81					B3KR64|Q96AM8	Nonsense_Mutation	SNP	ENST00000422440.2	37	c.241G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791463	0.90367	.	.	ENSG00000115840	ENST00000422440	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6969	19.6978	0.96034	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000388658:E81X	E	-	1	0	SLC25A12	172420674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.649000	0.89929	0.650000	0.86243	GAA		0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		11	837	1	0	1.08611e-07	6.40141e-05	3.69041e-06	11	837					A	172712428	C	A	172712428	4	1	75	1	0	0	0	0	0	1	0	0	14524	835	29	3	1855	3	SLC25A12	2	172712428	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5629337	172712428	70486945	73	9468											
TTN	7273	broad.mit.edu	37	chr2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaagatgctattggctgttCgatctctccatttaacattc	7	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000591111.1	-	209	43801	c.43577G>T	c.(43576-43578)cGa>cTa	p.R14526L	TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 5. {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)			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)			ATTGGCTGTTCGATCTCTCCA	0.433																																						ENST00000589042.1																			0				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						c.(48499-48501)cGa>cTa		titin							222	222	222					2																	179480172		1978	4153	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480172C>A	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.43577G>T	2.37:g.179480172C>A	ENSP00000465570:p.Arg14526Leu					TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000589487.1_RNA	p.R16167L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		259	48724	-			14526			Fibronectin type-III 17.		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.48500G>T		.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	TTN	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	900	1	0	0.000422831	0.000422831	0.00556767	15	900					A	179480172	C	A	179480172	3	1	75	1	0	0	0	0	1	0	0	0	16789	884	31	3	59609	3	TTN	2	179480172	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6767744	179480172	63719201	74	9469											
UBE2E3	10477	broad.mit.edu	37	chr2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaactatacttggtccacCgggttctgtatatgaaggtg	10	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266). {ECO:0000305}.	protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343																																						ENST00000410062.4																			0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(301-303)cCg>cAg		ubiquitin-conjugating enzyme E2E 3							115	121	119					2																	181922476		2203	4300	6503	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181922476C>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.302C>A	2.37:g.181922476C>A	ENSP00000386788:p.Pro101Gln					UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q	p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN			4	695	+			101	P -> L (in Ref. 3; AAP97266).				B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.302C>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553589	0.65425	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000426294;ENST00000409247	T;T	0.59906	0.23;0.23	4.88	4.88	0.63580	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059057	0.64402	D	0.000003	T	0.50786	0.1636	L	0.31157	0.91	0.80722	D	1	B	0.19706	0.038	B	0.25614	0.062	T	0.51411	-0.8709	10	0.72032	D	0.01	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	101	Q969T4	UB2E3_HUMAN	Q	101	ENSP00000376215:P101Q;ENSP00000386788:P101Q	ENSP00000376215:P101Q	P	+	2	0	UBE2E3	181630721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.686000	0.91538	0.585000	0.79938	CCG		0.343	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		12	1071	1	0	0.00010058	0.00010058	0.00173709	12	1071					A	181922476	C	A	181922476	3	1	75	1	0	0	0	0	1	0	0	0	16908	652	23	3	312	3	UBE2E3	2	181922476	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2442304	181922476	61276897	75	9470											
DNAJC10	54431	broad.mit.edu	37	chr2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtatcattctttttgtgccCaggaaaacgttcaaagatac	7	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.7	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1873-1875)Cag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 10							86	91	90					2																	183622482		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183622482C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1873C>A	2.37:g.183622482C>A	ENSP00000264065:p.Gln625Lys						p.Q625K	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2288	+			625			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1873C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294766	0.23564	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.35789	1.29	5.87	2.93	0.34026	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.376195	0.31963	N	0.006798	T	0.21550	0.0519	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.22080	0.001;0.064	B;B	0.27170	0.004;0.077	T	0.04693	-1.0933	10	0.25106	T	0.35	.	10.7484	0.46194	0.0:0.6612:0.2707:0.0681	.	579;625	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	625;579	ENSP00000264065:Q625K	ENSP00000264065:Q625K	Q	+	1	0	DNAJC10	183330727	0.962000	0.33011	0.998000	0.56505	0.992000	0.81027	1.867000	0.39499	0.913000	0.36797	0.655000	0.94253	CAG		0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		7	480	1	0	0.000274275	0.000274275	0.0039602	7	480					A	183622482	C	A	183622482	3	1	75	1	0	0	0	0	1	0	0	0	4645	595	21	3	1939	3	DNAJC10	2	183622482	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1700006	183622482	59576891	76	9471											
COL3A1	1281	broad.mit.edu	37	chr2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattaatggtagtcctggtGgtaaaggcgaaatggtaagc	15	4	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	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)			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)	TAGTCCTGGTGGTAAAGGCGA	0.373																																						ENST00000304636.3																			0				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						c.(1180-1182)Ggt>Tgt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						134	131	132					2																	189858794		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.chr2:189858794G>T	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.1180G>T	2.37:g.189858794G>T	ENSP00000304408:p.Gly394Cys					COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	p.G394C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1350	+			394			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.1180G>T	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180414|3.180414	0.57800|0.57800	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94376|.	-3.41;-3.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.29908|0.29908	0.895|0.895	0.39856|0.39856	D|D	0.973315|0.973315	D|.	0.76494|.	0.999|.	D|.	0.65323|.	0.934|.	T|T	0.49735|0.49735	-0.8908|-0.8908	10|5	0.56958|.	D|.	0.05|.	.|.	12.7679|12.7679	0.57403|0.57403	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	394|.	P02461|.	CO3A1_HUMAN|.	C|L	394|60	ENSP00000304408:G394C;ENSP00000315243:G394C|.	ENSP00000304408:G394C|.	G|W	+|+	1|2	0|0	COL3A1|COL3A1	189567039|189567039	0.787000|0.787000	0.28750|0.28750	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	2.172000|2.172000	0.42463|0.42463	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	397	1	0	0.000274275	0.000274275	0.0039602	7	397					T	189858794	G	T	189858794	3	4	75	1	0	0	0	0	1	0	0	0	3697	1348	47	3	1246	3	COL3A1	2	189858794	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6236312	189858794	53340579	77	9472											
STAT4	6775	broad.mit.edu	37	chr2	191898700	191898700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattgcttcaagccatgtcCaaaaggtaaatgatttacca	6	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:191898700C>A	ENST00000392320.2	-	19	1966	c.1652G>T	c.(1651-1653)tGg>tTg	p.W551L	STAT4_ENST00000358470.4_Missense_Mutation_p.W551L|AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000470708.1_5'Flank	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	551					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAA	0.289																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1651-1653)tGg>tTg		signal transducer and activator of transcription 4							124	132	130					2																	191898700		2203	4294	6497	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191898700C>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1652G>T	2.37:g.191898700C>A	ENSP00000376134:p.Trp551Leu					STAT4_ENST00000358470.4_Missense_Mutation_p.W551L	p.W551L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		19	1966	-			551					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1652G>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906762	0.92107	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.95377	-3.69;-3.69	5.65	5.65	0.86999	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.89478	3.035	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	0.98574	1.0647	10	0.87932	D	0	-36.5705	20.0845	0.97795	0.0:1.0:0.0:0.0	.	460;551;551	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	551	ENSP00000351255:W551L;ENSP00000376134:W551L	ENSP00000351255:W551L	W	-	2	0	STAT4	191606945	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.010000	0.76353	2.821000	0.97095	0.650000	0.86243	TGG		0.289	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	709	1	0	6.40141e-05	6.40141e-05	0.00117365	10	709					A	191898700	C	A	191898700	3	1	75	1	0	0	0	0	1	0	0	0	15319	595	21	3	618	3	STAT4	2	191898700	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2039906	191898700	51300673	78	9473											
DNAH7	56171	broad.mit.edu	37	chr2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctatagttgctgctaaattCgacagcagtttcataaagac	7	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem. {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)			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						CTGCTAAATTCGACAGCAGTT	0.393																																						ENST00000312428.6																			0				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						c.(2323-2325)Gaa>Taa		dynein, axonemal, heavy chain 7							149	138	142					2																	196825552		1853	4104	5957	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.chr2:196825552C>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.2323G>T	2.37:g.196825552C>A	ENSP00000311273:p.Glu775*						p.E775*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2423	-			775			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2323G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	DNAH7	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	667	1	0	7.93312e-07	0.000219431	2.45534e-05	12	667					A	196825552	C	A	196825552	4	1	75	1	0	0	0	0	0	1	0	0	4622	893	31	3	9943	3	DNAH7	2	196825552	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4926852	196825552	46373821	79	9474											
HECW2	57520	broad.mit.edu	37	chr2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccaacaaatactggtgtAttagtgcaagaccaaggatc	8	9	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3955-3957)aTa>aCa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							141	114	123					2																	197090556		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197090556A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3956T>C	2.37:g.197090556A>G	ENSP00000260983:p.Ile1319Thr					HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	p.I1319T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			23	4138	-			1319			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3956T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	HECW2	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA		0.403	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		36	319	0	0	0	0.000437636	0	36	319					G	197090556	A	G	197090556	3	3	75	1	0	0	0	0	1	0	0	0	7073	449	16	4	790	4	HECW2	2	197090556	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	265004	197090556	46108817	80	9475											
COQ10B	80219	broad.mit.edu	37	chr2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttcctacagatttcttttGaatttcgatcacttctacat	3	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000263960.2	+	5	697	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333																																						ENST00000263960.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(559-561)Gaa>Taa		coenzyme Q10 homolog B (S. cerevisiae)							46	46	46					2																	198338490		2203	4300	6503	SO:0001587	stop_gained	80219					mitochondrial inner membrane		g.chr2:198338490G>T	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"coenzyme Q10 homolog B (yeast)"				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.559G>T	2.37:g.198338490G>T	ENSP00000263960:p.Glu187*					COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*	p.E187*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	697	+			187					B7Z1Y4	Nonsense_Mutation	SNP	ENST00000263960.2	37	c.559G>T	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	38	7.256417	0.98168	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.0466	18.5442	0.91040	0.0:0.0:1.0:0.0	.	.	.	.	X	187;137;144;159	.	ENSP00000263960:E187X	E	+	1	0	COQ10B	198046735	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.777000	0.99008	2.371000	0.80710	0.585000	0.79938	GAA		0.333	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		9	531	1	0	0.000442599	0.000442599	0.00556767	9	531					T	198338490	G	T	198338490	4	4	75	1	0	0	0	0	0	1	0	0	3753	1291	45	3	577	3	COQ10B	2	198338490	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1247934	198338490	44860883	81	9476											
AOX1	316	broad.mit.edu	37	chr2	201534342	201534342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggggtgttccgtgtttttCgctatccatgacgcagtgag	13	9	0	2	rs150685936	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201534342C>A	ENST00000374700.2	+	34	4084	c.3843C>A	c.(3841-3843)ttC>ttA	p.F1281L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1281					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3841-3843)ttC>ttA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						201	197	198					2																	201534342		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201534342C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3843C>A	2.37:g.201534342C>A	ENSP00000363832:p.Phe1281Leu					AOX1_ENST00000485106.1_3'UTR	p.F1281L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			34	4084	+			1281					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3843C>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631444	0.46944	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.69306	-0.39;-0.39;-0.39	5.41	-4.33	0.03677	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.107097	0.64402	D	0.000004	T	0.65647	0.2711	M	0.76328	2.33	0.58432	D	0.999999	B	0.24721	0.11	B	0.32289	0.143	T	0.58142	-0.7688	10	0.54805	T	0.06	-35.6289	16.4908	0.84200	0.0:0.1033:0.0:0.8967	.	1281	Q06278	ADO_HUMAN	L	1281;145;121	ENSP00000363832:F1281L;ENSP00000260930:F145L;ENSP00000413326:F121L	ENSP00000260930:F145L	F	+	3	2	AOX1	201242587	0.610000	0.26983	0.827000	0.32855	0.299000	0.27559	-0.236000	0.09003	-0.991000	0.03476	0.557000	0.71058	TTC		0.522	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		10	771	1	0	6.40141e-05	6.40141e-05	0.00117365	10	771					A	201534342	C	A	201534342	3	1	75	1	0	0	0	0	1	0	0	0	729	883	31	3	3977	3	AOX1	2	201534342	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3195852	201534342	41665031	82	9477											
NIF3L1	60491	broad.mit.edu	37	chr2	201760066	201760066	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtagattttctttccCggaacaaacaactttatcag	8	8	2	1	rs200075304		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373																																						ENST00000409020.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(679-681)Cgg>Agg		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							133	120	124					2																	201760066		1828	4087	5915	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760066C>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.679C>A	2.37:g.201760066C>A						NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R	p.R227R			Q9GZT8	NIF3L_HUMAN			4	973	+			227					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.679C>A	CCDS46485.1																																																																																				0.373	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		10	540	1	0	3.86212e-05	0.000673444	0.000778902	10	540					A	201760066	C	A	201760066	2	1	75	1	0	0	0	0	0	0	0	1	10458	643	23	3		3	NIF3L1	2	201760066	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	225724	201760066	41439307	83	9478											
CYP20A1	57404	broad.mit.edu	37	chr2	204137450	204137450	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacttgataaaaacatgactCggaaaaaacaatatgaagat	6	6	0	4	rs201185429		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(658-660)Cgg>Agg		cytochrome P450, family 20, subfamily A, polypeptide 1							38	41	40					2																	204137450		2203	4296	6499	SO:0001819	synonymous_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204137450C>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.658C>A	2.37:g.204137450C>A						CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	p.R220R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			6	781	+			220					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	37	c.658C>A	CCDS2357.1																																																																																				0.313	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		6	247	1	0	0.000274275	0.000274275	0.0039602	6	247					A	204137450	C	A	204137450	2	1	75	1	0	0	0	0	0	0	0	1	4163	875	31	3		3	CYP20A1	2	204137450	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2377384	204137450	39061923	84	9479											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65	72	70					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	573						7	573	---	---	---	---	-	204150380	A	-	204150380	7	5	75	1	0	1	0	1	0	0	0	0	4163	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-HZ-A77Q-01A-11D-A36O-08	12930	204150380	39048993	85	9480											
MDH1B	130752	broad.mit.edu	37	chr2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgactccacttattcttttCacacacatcttttagccaat	3	12	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(157-159)Gaa>Taa		malate dehydrogenase 1B, NAD (soluble)							118	115	116					2																	207622074		2203	4300	6503	SO:0001587	stop_gained	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207622074C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.157G>T	2.37:g.207622074C>A	ENSP00000363533:p.Glu53*					MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*	p.E53*	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	3	432	-			53					A8K8M1|Q53TK9|Q8IV51	Nonsense_Mutation	SNP	ENST00000374412.3	37	c.157G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697252	0.15106	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.84	-1.43	0.08884	.	0.678176	0.16290	N	0.220957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.4765	6.6365	0.22885	0.113:0.437:0.0:0.4499	.	.	.	.	X	53	.	ENSP00000363533:E53X	E	-	1	0	MDH1B	207330319	0.957000	0.32711	0.889000	0.34880	0.015000	0.08874	0.114000	0.15520	0.073000	0.16731	-0.768000	0.03414	GAA		0.373	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		10	510	1	0	0.00010058	0.00010058	0.00173709	10	510					A	207622074	C	A	207622074	4	1	75	1	0	0	0	0	0	1	0	0	9450	835	29	3	1439	3	MDH1B	2	207622074	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3471694	207622074	35577299	86	9481											
PIKFYVE	200576	broad.mit.edu	37	chr2	209216171	209216171	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attatattacaaatgctgttCaacaaaaggtagaaatctaa	5	5	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:209216171C>A	ENST00000264380.4	+	38	5865	c.5707C>A	c.(5707-5709)Caa>Aaa	p.Q1903K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1903	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				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)			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						AAATGCTGTTCAACAAAAGGT	0.348																																						ENST00000264380.4																			0				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						c.(5707-5709)Caa>Aaa		phosphoinositide kinase, FYVE finger containing							142	150	148					2																	209216171		2203	4300	6503	SO:0001583	missense	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.chr2:209216171C>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5707C>A	2.37:g.209216171C>A	ENSP00000264380:p.Gln1903Lys						p.Q1903K	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			38	5865	+			1903			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5707C>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270734	0.59540	.	.	ENSG00000115020	ENST00000264380	T	0.34472	1.36	6.06	6.06	0.98353	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051349	0.85682	D	0.000000	T	0.24431	0.0592	N	0.11201	0.11	0.80722	D	1	P	0.44521	0.837	B	0.40066	0.318	T	0.03795	-1.1003	10	0.18276	T	0.48	-15.0232	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1903	Q9Y2I7	FYV1_HUMAN	K	1903	ENSP00000264380:Q1903K	ENSP00000264380:Q1903K	Q	+	1	0	PIKFYVE	208924416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.614000	0.67695	2.871000	0.98454	0.655000	0.94253	CAA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		11	835	1	0	2.31682e-05	0.000308642	0.000501203	11	835					A	209216171	C	A	209216171	3	1	75	1	0	0	0	0	1	0	0	0	11966	827	29	3	5864	3	PIKFYVE	2	209216171	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1594097	209216171	33983202	87	9482											
USP37	57695	broad.mit.edu	37	chr2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctagcaaccctgatctaaGaggtgttgaagtagatgtca	10	7	3	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(577-579)Ctt>Gtt		ubiquitin specific peptidase 37							119	118	118					2																	219411667		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219411667G>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.577C>G	2.37:g.219411667G>C	ENSP00000258399:p.Leu193Val					USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V	p.L193V	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	7	989	-		Renal(207;0.0915)	193					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.577C>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	USP37	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT		0.398	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		83	463	0	0	0	0.000781405	0	83	463					C	219411667	G	C	219411667	3	2	75	1	0	0	0	0	1	0	0	0	17122	942	33	5	2442	5	USP37	2	219411667	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10195496	219411667	23787706	88	9483											
PTPRN	5798	broad.mit.edu	37	chr2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacaccttgtaagcgttGgagaactggggaggtgactt	15	7	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					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)			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)		TGTAAGCGTTGGAGAACTGGG	0.557																																						ENST00000295718.2																			0				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						c.(241-243)Caa>Taa		protein tyrosine phosphatase, receptor type, N							74	72	72					2																	220172205		2203	4300	6503	SO:0001587	stop_gained	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220172205G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.241C>T	2.37:g.220172205G>A	ENSP00000295718:p.Gln81*					PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	p.Q81*	NM_002846.3	NP_002837.1	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)	3	481	-		Renal(207;0.0474)	81					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	ENST00000295718.2	37	c.241C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	PTPRN	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			34	214	0	0	0	0.000814825	0	34	214					A	220172205	G	A	220172205	4	1	75	1	0	0	0	0	0	1	0	0	12857	1357	47	2	2782	2	PTPRN	2	220172205	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	760538	220172205	23027168	89	9484											
TMEM198	130612	broad.mit.edu	37	chr2	220412305	220412305	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctcctctgctacCgagagcgggtgctagagaca	10	13	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(244-246)Cga>Aga		transmembrane protein 198							245	240	242					2																	220412305		2203	4300	6503	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412305C>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.244C>A	2.37:g.220412305C>A						TMEM198_ENST00000373883.3_Silent_p.R82R|RP11-256I23.1_ENST00000596829.1_RNA	p.R82R			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	829	+		Renal(207;0.0376)	82			Leu-rich.			Silent	SNP	ENST00000344458.2	37	c.244C>A	CCDS33385.1																																																																																				0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		10	991	1	0	6.40141e-05	6.40141e-05	0.00117365	10	991					A	220412305	C	A	220412305	2	1	75	1	0	0	0	0	0	0	0	1	16171	644	23	3		3	TMEM198	2	220412305	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	240100	220412305	22787068	90	9485											
SLC19A3	80704	broad.mit.edu	37	chr2	228564041	228564041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtagtgctcggggctgacCacgctgtatatgtaggcgta	15	8	0	1	rs376187918		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(388-390)gtG>gtT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)	C		0,4406		0,0,2203	86	86	86		390	5.9	1	2		86	1,8599		0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		130/497	228564041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564041C>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.390G>T	2.37:g.228564041C>A						SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	p.V130V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	461	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	130						Silent	SNP	ENST00000258403.3	37	c.390G>T	CCDS2468.1																																																																																				0.587	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			8	430	1	0	5.18039e-06	0.000157383	0.000141431	8	430					A	228564041	C	A	228564041	2	1	75	1	0	0	0	0	0	0	0	1	14480	581	21	3		3	SLC19A3	2	228564041	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8151736	228564041	14635332	91	9486											
ING5	84289	broad.mit.edu	37	chr2	242650884	242650884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgattttgaaagctcCggagggcgagggttaaaaag	16	5	0	2	rs142180451	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:242650884C>A	ENST00000313552.6	+	4	395	c.369C>A	c.(367-369)tcC>tcA	p.S123S	ING5_ENST00000406941.1_Silent_p.S123S|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(367-369)tcC>tcA		inhibitor of growth family, member 5							129	145	140					2																	242650884		2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650884C>A	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.369C>A	2.37:g.242650884C>A						ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S	p.S123S	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	395	+		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)	123					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.369C>A	CCDS33425.1																																																																																				0.393	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		12	801	1	0	1.3612e-06	0.000308642	4.17169e-05	12	801					A	242650884	C	A	242650884	2	1	75	1	0	0	0	0	0	0	0	1	7769	639	23	3		3	ING5	2	242650884	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14086843	242650884	548489	92	9487											
FANCD2	2177	broad.mit.edu	37	chr3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaggctgctgcagatttttCatgggctttttgcttggtaa	12	6	1	2	rs201184977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000419585.1	+	32	3369	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000287647.3_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3208-3210)Cat>Aat	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							216	213	214					3																	10123132		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10123132C>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3208C>A	3.37:g.10123132C>A	ENSP00000398754:p.His1070Asn					FANCD2OS_ENST00000524279.1_3'UTR|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N	p.H1070N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	32	3301	+			1070					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3208C>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454949	0.12283	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.75	3.04	0.35103	.	0.314743	0.37623	N	0.002011	T	0.33614	0.0869	L	0.39020	1.185	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.14023	0.006;0.01	T	0.20107	-1.0285	10	0.14656	T	0.56	.	10.4471	0.44501	0.0:0.8063:0.0:0.1937	.	1070;1070	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1070	ENSP00000287647:H1070N;ENSP00000373318:H1070N;ENSP00000373317:H1070N;ENSP00000398754:H1070N	ENSP00000287647:H1070N	H	+	1	0	FANCD2	10098132	0.679000	0.27596	0.008000	0.14137	0.983000	0.72400	2.200000	0.42724	0.386000	0.24997	-0.125000	0.14975	CAT		0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			14	998	1	0	0.000151284	0.000151284	0.00252221	14	998					A	10123132	C	A	10123132	3	1	75	1	0	0	0	0	1	0	0	0	5690	826	29	3	3330	3	FANCD2	3	10123132	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		10123132	187899298	93	9488											
SATB1	6304	broad.mit.edu	37	chr3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-													ggctgtggaggcggcggtgcCtgctgctgctgctgctgctg							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1819-1821)del		SATB homeobox 1			,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391133_18391135delCTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del					SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3553_3555	-			607			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1819_1821delCAG	CCDS2631.1																																																																																				0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	118						7	118	---	---	---	---	-	18391135	CTG	-	18391133	7	5	75	1	0	1	0	1	0	0	0	0	13903	680	24	0	474	0	SATB1	3	18391133	In_Frame_Del	DEL	CTG	TCGA-HZ-A77Q-01A-11D-A36O-08	8268001	18391133	179631297	94	9489											
SLC4A7	9497	broad.mit.edu	37	chr3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatataaggtccatgatgacCacaagctgaccccaagaata	7	10	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATGATGACCACAAGCTGAC	0.363																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2443-2445)Ggt>Tgt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							119	120	119					3																	27439802		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439802C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2443G>T	3.37:g.27439802C>A	ENSP00000295736:p.Gly815Cys					SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	p.G815C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			17	2513	-			815					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2443G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	SLC4A7	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT		0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		8	494	1	0	2.27111e-07	0.00010058	7.55265e-06	8	494					A	27439802	C	A	27439802	3	1	75	1	0	0	0	0	1	0	0	0	14708	594	21	3	1237	3	SLC4A7	3	27439802	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9048669	27439802	170582628	95	9490											
ZNF502	91392	broad.mit.edu	37	chr3	44763222	44763222	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgaatgtggctcttcttttCgaaaacactcaaatcttacg	7	9	4	1	rs561539227		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164	170	168					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A						ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		14	862	1	0	0.000308642	0.000308642	0.00435582	14	862					A	44763222	C	A	44763222	2	1	75	1	0	0	0	0	0	0	0	1	18003	876	31	3		3	ZNF502	3	44763222	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	17323420	44763222	153259208	96	9491											
XCR1	2829	broad.mit.edu	37	chr3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgaagatgagcttgaccGtgcggtggcgccgcttggag	18	9	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(667-669)aCg>aTg		chemokine (C motif) receptor 1							68	62	64					3																	46062772		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062772G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.668C>T	3.37:g.46062772G>A	ENSP00000310405:p.Thr223Met					XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1024	-			223						Missense_Mutation	SNP	ENST00000309285.3	37	c.668C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	XCR1	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG		0.582	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			21	200	0	0	0	0.000295444	0	21	200					A	46062772	G	A	46062772	3	1	75	1	0	0	0	0	1	0	0	0	17479	1145	40	1	337	1	XCR1	3	46062772	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1299550	46062772	151959658	97	9492											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181	175	177					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			8	1169						8	1169	---	---	---	---	-	46306948	T	-	46306948	7	5	75	1	0	1	0	1	0	0	0	0	2951	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	244176	46306948	151715482	98	9493											
RBM6	10180	broad.mit.edu	37	chr3	50091792	50091792	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaacattggtgggcacCgatcttcctgttcattctgc	10	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000266022.4	+	8	1916	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000443081.1_Silent_p.R421R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378																																						ENST00000443081.1																			1	Substitution - coding silent(1)	p.R553R(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1261-1263)Cga>Aga		RNA binding motif protein 6							195	202	200					3																	50091792		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50091792C>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1657C>A	3.37:g.50091792C>A						RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000266022.4_Silent_p.R553R|RBM6_ENST00000442092.1_Silent_p.R31R	p.R421R			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	8	2180	+			553					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.1261C>A	CCDS2809.1																																																																																				0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		8	793	1	0	1.58986e-06	0.000673444	4.62318e-05	8	793					A	50091792	C	A	50091792	2	1	75	1	0	0	0	0	0	0	0	1	13194	644	23	3		3	RBM6	3	50091792	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3784844	50091792	147930638	99	9494											
DOCK3	1795	broad.mit.edu	37	chr3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgcctggcatctctcGgtggtttgaagtggagagga	15	8	1	2	rs374385144		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4474-4476)cGg>cTg		dedicator of cytokinesis 3							128	122	124					3																	51393896		2024	4198	6222	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393896G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4475G>T	3.37:g.51393896G>T	ENSP00000266037:p.Arg1492Leu						p.R1492L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	43	4498	+			1492			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4475G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529687	0.85706	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19669	2.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.83312	2.635	0.80722	D	1	B	0.27498	0.18	B	0.28385	0.089	T	0.26815	-1.0092	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1492	Q8IZD9	DOCK3_HUMAN	L	1492;288	ENSP00000266037:R1492L	ENSP00000266037:R1492L	R	+	2	0	DOCK3	51368936	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	CGG		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		7	476	1	0	0.000442599	0.000442599	0.00556767	7	476					T	51393896	G	T	51393896	3	4	75	1	0	0	0	0	1	0	0	0	4704	1116	39	3	4645	3	DOCK3	3	51393896	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1302104	51393896	146628534	100	9495											
FLNB	2317	broad.mit.edu	37	chr3	58108948	58108948	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtccgtgcgaggccaaaatCgagtgctccgacaatggtga	14	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000295956.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3253-3255)atC>atA		filamin B, beta							162	146	151					3																	58108948		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108948C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3255C>A	3.37:g.58108948C>A						FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I	p.I1085I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3420	+			1085					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3255C>A	CCDS2885.1																																																																																				0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		9	545	1	0	0.000442599	0.000442599	0.00556767	9	545					A	58108948	C	A	58108948	2	1	75	1	0	0	0	0	0	0	0	1	5959	874	31	3		3	FLNB	3	58108948	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6715052	58108948	139913482	101	9496											
CADPS	8618	broad.mit.edu	37	chr3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttccagacattcttacCgatggcccataaatacctaa	4	13	2	1	rs567840502		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000283269.9_Missense_Mutation_p.G532C|CADPS_ENST00000357948.3_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACATTCTTACCGATGGCCCAT	0.398																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1594-1596)Ggt>Tgt		Ca++-dependent secretion activator							147	149	148					3																	62556597		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62556597C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1594G>T	3.37:g.62556597C>A	ENSP00000373215:p.Gly532Cys					CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	9	1943	-		Lung SC(41;0.0452)	532			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1594G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029139	0.75504	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.77229	-0.15;-0.09;-0.13;-1.08	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.81942	2.565	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;1.0;1.0	D	0.89811	0.3982	10	0.87932	D	0	.	17.2657	0.87086	0.0:1.0:0.0:0.0	.	532;532;532;532	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	C	532;532;532;532;27	ENSP00000373215:G532C;ENSP00000350632:G532C;ENSP00000283269:G532C;ENSP00000439528:G27C	ENSP00000283269:G532C	G	-	1	0	CADPS	62531637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.718000	0.68455	2.668000	0.90789	0.655000	0.94253	GGT		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		9	691	1	0	2.80697e-09	6.40141e-05	1.03231e-07	9	691					A	62556597	C	A	62556597	3	1	75	1	0	0	0	0	1	0	0	0	2577	652	23	3	2628	3	CADPS	3	62556597	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4447649	62556597	135465833	102	9497											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		9	1198						9	1198	---	---	---	---	-	66436627	GCT	-	66436625	7	5	75	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-HZ-A77Q-01A-11D-A36O-08	3880028	66436625	131585805	103	9498											
TBC1D23	55773	broad.mit.edu	37	chr3	100039700	100039700	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gattggcttatatacagtctCgacaagcgctgaattctgta	9	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1903-1905)Cga>Aga		TBC1 domain family, member 23							91	92	92					3																	100039700		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039700C>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1903C>A	3.37:g.100039700C>A						TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	p.R635R	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			18	1910	+			635					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1903C>A	CCDS56265.1																																																																																				0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		9	426	1	0	0.000673444	0.000673444	0.00785517	9	426					A	100039700	C	A	100039700	2	1	75	1	0	0	0	0	0	0	0	1	15665	876	31	3		3	TBC1D23	3	100039700	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	33603075	100039700	97982730	104	9499											
DZIP3	9666	broad.mit.edu	37	chr3	108353719	108353719	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacttttatttttttccaggGattttttcagttaatgtgca	6	5	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e10-1		DAZ interacting zinc finger protein 3							65	67	67					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353719G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>C	3.37:g.108353719G>C						DZIP3_ENST00000463306.1_Splice_Site_p.G273_splice	p.G273_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			10	1048	+			273					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37	c.816_splice	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Missense_Mutation	13	318	0	0	0	0.000219431	0	13	318					C	108353719	G	C	108353719	5	2	75	1	0	0	0	0	0	0	1	0	4881	1188	41	5	852	5	DZIP3	3	108353719	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8314019	108353719	89668711	105	9500											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-													ccagagagtccttgatgcccTttttccgtaagtttgagatg							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219	201	207					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	844						7	844	---	---	---	---	-	113505224	T	-	113505224	7	5	75	1	0	1	0	1	0	0	0	0	1178	1609	56	0	728	0	ATP6V1A	3	113505224	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	5151505	113505224	84517206	106	9501											
KTELC1	56983	broad.mit.edu	37	chr3	119190184	119190184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatctaactcctttcCgaggaggcatctccaggaag	11	10	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119190184C>A	ENST00000295588.4	+	3	289	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	69					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)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCCTTTCCGAGGAGGCAT	0.498																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(205-207)Cga>Aga		protein O-glucosyltransferase 1							248	244	245					3																	119190184		2203	4300	6503	SO:0001819	synonymous_variant	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119190184C>A	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.205C>A	3.37:g.119190184C>A							p.R69R	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			3	289	+			69					B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	37	c.205C>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092898	0.20471	.	.	ENSG00000163389	ENST00000476573	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.69097	0.3073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68123	-0.5492	4	.	.	.	-6.1614	13.7387	0.62833	0.0:1.0:0.0:0.0	.	.	.	.	Q	55	.	.	P	+	2	0	POGLUT1	120672874	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.904000	0.48719	2.312000	0.78011	0.561000	0.74099	CCG		0.498	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		9	864	1	0	0.000274275	0.000274275	0.0039602	9	864					A	119190184	C	A	119190184	2	1	75	1	0	0	0	0	0	0	0	1	8614	644	23	3		3	KTELC1	3	119190184	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5684960	119190184	78832246	107	9502											
PLA1A	51365	broad.mit.edu	37	chr3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcgaatcctagctgtGggcagctagtagaaggaagc	12	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000273371.4	+	2	262	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	64					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(190-192)Ggg>Tgg		phospholipase A1 member A							154	159	157					3																	119325737		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325737G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.190G>T	3.37:g.119325737G>T	ENSP00000273371:p.Gly64Trp					PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W|PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron	p.G64W	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			2	262	+			64					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.190G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151990	0.57151	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91631	-2.68;-2.88;-2.68	5.04	5.04	0.67666	Lipase, N-terminal (1);	0.150264	0.64402	D	0.000014	D	0.96506	0.8860	M	0.89534	3.04	0.48632	D	0.999682	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95733	0.8776	10	0.38643	T	0.18	-19.1743	15.7681	0.78143	0.0:0.0:1.0:0.0	.	64;64	Q53H76-3;Q53H76	.;PLA1A_HUMAN	W	64;64;48	ENSP00000273371:G64W;ENSP00000417326:G64W;ENSP00000418793:G48W	ENSP00000273371:G64W	G	+	1	0	PLA1A	120808427	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.717000	0.68446	2.791000	0.96007	0.655000	0.94253	GGG		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			9	634	1	0	2.17888e-05	0.000442599	0.00047966	9	634					T	119325737	G	T	119325737	3	4	75	1	0	0	0	0	1	0	0	0	12030	1348	47	3	196	3	PLA1A	3	119325737	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	135553	119325737	78696693	108	9503											
POLQ	10721	broad.mit.edu	37	chr3	121192257	121192257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtcaatccctcttctGgtagaacccagagttttctt	6	12	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6481-6483)acC>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							221	212	215					3																	121192257		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192257G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6483C>A	3.37:g.121192257G>T							p.T2161T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6611	-			2161					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.6483C>A	CCDS33833.1																																																																																				0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		11	1037	1	0	0.00010058	0.00010058	0.00173709	11	1037					T	121192257	G	T	121192257	2	4	75	1	0	0	0	0	0	0	0	1	12250	1335	47	3		3	POLQ	3	121192257	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1866520	121192257	76830173	109	9504											
GOLGB1	2804	broad.mit.edu	37	chr3	121410027	121410027	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacctttattttctttGgtgaccatgagtaatttctg	9	6	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000340645.5	-	14	8294	c.8169C>A	c.(8167-8169)acC>acA	p.T2723T	GOLGB1_ENST00000393667.3_Silent_p.T2728T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2723					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATTTTCTTTGGTGACCATGA	0.403																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8182-8184)acC>acA		golgin B1							237	244	242					3																	121410027		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410027G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8169C>A	3.37:g.121410027G>T						GOLGB1_ENST00000340645.5_Silent_p.T2723T	p.T2728T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8294	-			2723					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.8184C>A	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		12	960	1	0	1.5842e-08	0.000151284	5.6922e-07	12	960					T	121410027	G	T	121410027	2	4	75	1	0	0	0	0	0	0	0	1	6594	1335	47	3		3	GOLGB1	3	121410027	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	217770	121410027	76612403	110	9505											
GATA2	2624	broad.mit.edu	37	chr3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccagccagggcagctGcactgaagggggatgacttc	15	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					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)			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)		CAGGGCAGCTGCACTGAAGGG	0.612			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				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						c.(1288-1290)gCa>gAa		GATA binding protein 2							131	114	119					3																	128200016		2203	4300	6503	SO:0001583	missense	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.chr3:128200016G>T	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.1289C>A	3.37:g.128200016G>T	ENSP00000345681:p.Ala430Glu					GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000489987.1_5'UTR	p.A430E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1620	-			430					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1289C>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	GATA2	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA		0.612	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		29	284	1	0	1.80694e-10	0.000279167	7.01678e-09	29	284					T	128200016	G	T	128200016	3	4	75	1	0	0	0	0	1	0	0	0	6282	1319	46	3	157	3	GATA2	3	128200016	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6789989	128200016	69822414	111	9506											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		6	311	0	0	0	0.000274275	0	6	311					A	129370592	T	A	129370592	3	1	75	1	0	0	0	0	1	0	0	0	16044	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	1170576	129370592	68651838	112	9507											
TOPBP1	11073	broad.mit.edu	37	chr3	133329879	133329880	+	Frame_Shift_Ins	INS	-	-	T													agattcttgtctttgctggaINSttttttttctccatctcatt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:133329879_133329880insT	ENST00000260810.5	-	25	4272_4273	c.4141_4142insA	c.(4141-4143)atcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					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)			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						TCTTTGCTGGATTTTTTTTCTC	0.342								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				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						c.(4141-4143)ccafs	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1																																				SO:0001589	frameshift_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329879_133329880insT	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.4142dupA	3.37:g.133329887_133329887dupT	ENSP00000260810:p.Ile1381fs						p.P1381fs	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			25	4272_4273	-			1381					B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Ins	INS	ENST00000260810.5	37	c.4141_4142insA	CCDS46919.1																																																																																				0.342	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	813						8	813	---	---	---	---	T	133329880	-	T	133329879	7	5	75	1	0	1	1	0	0	0	0	0	16422	333	12	0	442	0	TOPBP1	3	133329879	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	3959287	133329879	64692551	113	9508											
CEP70	80321	broad.mit.edu	37	chr3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctcaaatccacaatcttGaacaagatctttattaaaat	3	8	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385				Q -> R (in Ref. 2; BAH13584). {ECO:0000305}.	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)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(1153-1155)Caa>Aaa		centrosomal protein 70kDa							122	125	124					3																	138224205		2203	4299	6502	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138224205G>T	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.1153C>A	3.37:g.138224205G>T	ENSP00000264982:p.Gln385Lys					CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K	p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			13	1419	-			385					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.1153C>A	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729538	0.30684	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.14	4.27	0.50696	.	0.301827	0.28815	N	0.014047	T	0.22898	0.0553	L	0.57536	1.79	0.09310	N	1	B;B;P;B	0.35575	0.073;0.143;0.51;0.143	B;B;B;B	0.31290	0.022;0.056;0.127;0.056	T	0.15178	-1.0446	10	0.39692	T	0.17	-0.9407	9.7105	0.40243	0.0938:0.0:0.9062:0.0	.	233;365;385;385	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	K	385;365;233;385;367;385	ENSP00000264982:Q385K;ENSP00000444128:Q365K;ENSP00000417821:Q233K;ENSP00000419231:Q385K;ENSP00000419833:Q367K;ENSP00000417465:Q385K	ENSP00000264982:Q385K	Q	-	1	0	CEP70	139706895	0.999000	0.42202	0.034000	0.17996	0.002000	0.02628	5.655000	0.67981	1.546000	0.49388	-0.136000	0.14681	CAA		0.358	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		13	870	1	0	2.68362e-12	0.00010058	1.04862e-10	13	870					T	138224205	G	T	138224205	3	4	75	1	0	0	0	0	1	0	0	0	3268	1299	45	3	664	3	CEP70	3	138224205	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4894326	138224205	59798225	114	9509											
TRIM42	287015	broad.mit.edu	37	chr3	140401487	140401487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcggcagctgcagaaGcacgccgaggtcaccgagaa	14	13	1	2	rs574747515		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19979	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(523-525)aaG>aaA		tripartite motif containing 42							101	92	95					3																	140401487		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401487G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.525G>A	3.37:g.140401487G>A							p.K175K	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	716	+			175					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.525G>A	CCDS3113.1																																																																																				0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		43	349	0	0	0	0.000437636	0	43	349					A	140401487	G	A	140401487	2	1	75	1	0	0	0	0	0	0	0	1	16570	962	34	2		2	TRIM42	3	140401487	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2177282	140401487	57620943	115	9510											
TRIM42	287015	broad.mit.edu	37	chr3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtctgccgcaacaagCgcatcgcttacaagcgctgc	11	15	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.R245C(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(733-735)Cgc>Tgc		tripartite motif containing 42							81	77	78					3																	140401695		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401695C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.733C>T	3.37:g.140401695C>T	ENSP00000286349:p.Arg245Cys						p.R245C	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	924	+			245					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.733C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	TRIM42	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		42	348	0	0	0	0.000509022	0	42	348					T	140401695	C	T	140401695	3	4	75	1	0	0	0	0	1	0	0	0	16570	768	27	1	739	1	TRIM42	3	140401695	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	208	140401695	57620735	116	9511											
MFSD1	64747	broad.mit.edu	37	chr3	158523162	158523162	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcatataggatatgcaagtGaataccacgaaattcatgct	7	7	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:158523162G>T	ENST00000264266.8	+	3	290	c.228G>T	c.(226-228)gtG>gtT	p.V76V	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000415822.2_Silent_p.V125V			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATGCAAGTGAATACCACGA	0.328																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(373-375)gtG>gtT		major facilitator superfamily domain containing 1							206	190	196					3																	158523162		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158523162G>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.228G>T	3.37:g.158523162G>T						MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Silent_p.V76V	p.V125V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	516	+			76					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.375G>T																																																																																					0.328	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		12	776	1	0	0.000219431	0.000219431	0.00342116	12	776					T	158523162	G	T	158523162	2	4	75	1	0	0	0	0	0	0	0	1	9568	1277	45	3		3	MFSD1	3	158523162	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18121467	158523162	39499268	117	9512											
SI	6476	broad.mit.edu	37	chr3	164793762	164793762	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actatgacaaaaaggacaatCagagagatttccaatccact	6	9	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:164793762C>A	ENST00000264382.3	-	2	101	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAAGGACAATCAGAGAGATTT	0.284										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(37-39)ctG>ctT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						68	68	68					3																	164793762		2203	4293	6496	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793762C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.39G>T	3.37:g.164793762C>A		HNSCC(35;0.089)					p.L13L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			2	101	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	13					A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.39G>T	CCDS3196.1																																																																																				0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	541	1	0	5.50884e-06	0.00010058	0.000142319	10	541					A	164793762	C	A	164793762	2	1	75	1	0	0	0	0	0	0	0	1	14347	813	29	3		3	SI	3	164793762	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6270600	164793762	33228668	118	9513											
SEC62	7095	broad.mit.edu	37	chr3	169700520	169700520	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaagcagttttttcacCgagccctaaaagtaatgaaa	7	7	1	2	rs180699945		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Silent_p.R93R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(277-279)Cga>Aga		SEC62 homolog (S. cerevisiae)							68	80	76					3																	169700520		2186	4297	6483	SO:0001819	synonymous_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700520C>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.277C>A	3.37:g.169700520C>A						SEC62_ENST00000480708.1_Silent_p.R93R|SEC62-AS1_ENST00000479626.1_RNA	p.R93R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	335	+			93					D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	c.277C>A	CCDS3210.1																																																																																				0.323	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			9	835	1	0	1.58986e-06	0.000673444	4.62318e-05	9	835					A	169700520	C	A	169700520	2	1	75	1	0	0	0	0	0	0	0	1	14054	644	23	3		3	SEC62	3	169700520	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4906758	169700520	28321910	119	9514											
MFN1	55669	broad.mit.edu	37	chr3	179083014	179083014	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagaatatatggaagacGtaagttgttatttttttttt	8	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.e7+1		mitofusin 1							38	40	40					3																	179083014		2201	4300	6501	SO:0001630	splice_region_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179083014G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.753+1G>A	3.37:g.179083014G>A						MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site		NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	879	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)							B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Splice_Site	SNP	ENST00000471841.1	37		CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.		0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	Intron	30	202	0	0	0	0.000279167	0	30	202					A	179083014	G	A	179083014	5	1	75	1	0	0	0	0	0	0	1	0	9564	1159	40	1	776	1	MFN1	3	179083014	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9382494	179083014	18939416	120	9515											
MCF2L2	23101	broad.mit.edu	37	chr3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctgtgctggaggccGggtcttccttgctagtggta	13	12	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2989-2991)cCg>cAg		MCF.2 cell line derived transforming sequence-like 2							205	179	188					3																	182910813		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182910813G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2990C>A	3.37:g.182910813G>T	ENSP00000328118:p.Pro997Gln					MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	p.P997Q	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		27	3287	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		997					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2990C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558511	0.27827	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01787	4.64;4.65	2.97	2.97	0.34412	.	1.214100	0.06023	N	0.651619	T	0.02455	0.0075	N	0.19112	0.55	0.31814	N	0.626829	D	0.53619	0.961	P	0.48454	0.578	T	0.46965	-0.9153	10	0.27785	T	0.31	.	9.6801	0.40065	0.0:0.0:1.0:0.0	.	997	Q86YR7	MF2L2_HUMAN	Q	997	ENSP00000328118:P997Q;ENSP00000420070:P997Q	ENSP00000328118:P997Q	P	-	2	0	MCF2L2	184393507	0.000000	0.05858	0.091000	0.20842	0.066000	0.16364	0.072000	0.14617	1.953000	0.56701	0.467000	0.42956	CCG		0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		8	519	1	0	0.000673444	0.000673444	0.00785517	8	519					T	182910813	G	T	182910813	3	4	75	1	0	0	0	0	1	0	0	0	9421	1116	39	3	370	3	MCF2L2	3	182910813	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3827799	182910813	15111617	121	9516											
KLHL24	54800	broad.mit.edu	37	chr3	183388894	183388894	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttatgattccttttcaaatCgatggactgaagttgctccc	8	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000476808.1_Silent_p.R433R|KLHL24_ENST00000242810.6_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	433						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1297-1299)Cga>Aga		kelch-like family member 24							223	210	214					3																	183388894		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183388894C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1297C>A	3.37:g.183388894C>A						KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	p.R433R			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		7	1683	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		433					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.1297C>A	CCDS3246.1																																																																																				0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		10	658	1	0	2.17888e-05	0.000442599	0.00047966	10	658					A	183388894	C	A	183388894	2	1	75	1	0	0	0	0	0	0	0	1	8409	876	31	3		3	KLHL24	3	183388894	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	478081	183388894	14633536	122	9517											
YEATS2	55689	broad.mit.edu	37	chr3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctctttgcccaattGggagtcaccctaaggttcaa	8	13	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408																																						ENST00000305135.5																			1	Substitution - Missense(1)	p.G568W(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1702-1704)Ggg>Tgg		YEATS domain containing 2							159	155	156					3																	183479340		1869	4091	5960	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479340G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1702G>T	3.37:g.183479340G>T	ENSP00000306983:p.Gly568Trp						p.G568W	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1897	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		568					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1702G>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	YEATS2	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG		0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		9	756	1	0	6.40141e-05	6.40141e-05	0.00117365	9	756					T	183479340	G	T	183479340	3	4	75	1	0	0	0	0	1	0	0	0	17526	1348	47	3	1752	3	YEATS2	3	183479340	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	90446	183479340	14543090	123	9518											
RNF168	165918	broad.mit.edu	37	chr3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-													ttcttccatcgctcttcgccTtttttctgcctgtctttttt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512	470	484					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		7	1078						7	1078	---	---	---	---	-	196214338	T	-	196214338	7	5	75	1	0	1	0	1	0	0	0	0	13509	1608	56	0	1241	0	RNF168	3	196214338	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	12734998	196214338	1808092	124	9519											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		9	784						9	784	---	---	---	---	-	946207	TG	-	946206	7	5	75	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-HZ-A77Q-01A-11D-A36O-08		946206	190208070	125	9520											
FAM53A	152877	broad.mit.edu	37	chr4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccggctcctcttcccaCtgagcacgcaaggctgtgag	12	15	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(796-798)aGt>aCt		family with sequence similarity 53, member A							27	24	25					4																	1656790		2202	4300	6502	SO:0001583	missense	152877					nucleus		g.chr4:1656790C>G	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.797G>C	4.37:g.1656790C>G	ENSP00000310057:p.Ser266Thr					FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	989	-		all_epithelial(65;0.206)|Breast(71;0.212)	266					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.797G>C	CCDS33939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	FAM53A|FAM53A	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.677	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		17	119	0	0	0	0.000566183	0	17	119					G	1656790	C	G	1656790	3	3	75	1	0	0	0	0	1	0	0	0	5604	565	20	5	407	5	FAM53A	4	1656790	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	710584	1656790	189497486	126	9521											
GRK4	2868	broad.mit.edu	37	chr4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggtggggacttggctgtCtgatctatgaaatgattcag	13	5	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1123-1125)Ctg>Atg		G protein-coupled receptor kinase 4							96	96	96					4																	3030990		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3030990C>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1123C>A	4.37:g.3030990C>A	ENSP00000381129:p.Leu375Met					GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	1466	+			375			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1123C>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321713	0.60634	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.21	3.38	0.38709	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	0.64402	U	0.000015	T	0.26738	0.0654	N	0.11724	0.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;1.0	D;D;D;D	0.97110	1.0;0.989;0.949;1.0	T	0.12578	-1.0542	10	0.62326	D	0.03	-12.6799	4.8167	0.13371	0.0:0.5828:0.1638:0.2534	.	343;343;375;375	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	343;375;343;375	ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M	ENSP00000264764:L343M	L	+	1	2	GRK4	3000788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	0.606000	0.29965	0.643000	0.83706	CTG		0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		8	423	1	0	1.12685e-05	0.000274275	0.000275198	8	423					A	3030990	C	A	3030990	3	1	75	1	0	0	0	0	1	0	0	0	6821	912	32	3	1169	3	GRK4	4	3030990	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1374200	3030990	188123286	127	9522											
CYTL1	54360	broad.mit.edu	37	chr4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagttcccttagcgctgacGatctggcaggaccgtagtca	11	12	3	1	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(400-402)Cgt>Agt		cytokine-like 1							128	115	119					4																	5016889		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016889G>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.400C>A	4.37:g.5016889G>T	ENSP00000303550:p.Arg134Ser						p.R134S	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	426	-			134						Missense_Mutation	SNP	ENST00000307746.4	37	c.400C>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.983|6.983	0.551462|0.551462	0.13374|0.13374	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508	T|.	0.28454|.	1.61|.	4.4|4.4	1.35|1.35	0.21983|0.21983	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|.	0.11793|.	0.0287|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.25609|.	0.13|.	B|.	0.19946|.	0.027|.	T|.	0.25537|.	-1.0129|.	10|.	0.21540|.	T|.	0.41|.	0.151|0.151	1.9715|1.9715	0.03407|0.03407	0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	S|X	134|73	ENSP00000303550:R134S|.	ENSP00000303550:R134S|.	R|S	-|-	1|2	0|0	CYTL1|CYTL1	5067790|5067790	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.318000|0.318000	0.19504|0.19504	0.270000|0.270000	0.21984|0.21984	0.511000|0.511000	0.50034|0.50034	CGT|TCG		0.488	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		9	446	1	0	0.000673444	0.000673444	0.00785517	9	446					T	5016889	G	T	5016889	3	4	75	1	0	0	0	0	1	0	0	0	4219	1058	37	3	14	3	CYTL1	4	5016889	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1985899	5016889	186137387	128	9523											
KLHL5	51088	broad.mit.edu	37	chr4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctgaggatgtctggttctCgtaaagagtttgatgtgaaa	12	5	3	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000504108.1	+	1	434	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(13-15)Cgt>Agt		kelch-like family member 5							215	202	207					4																	39064285		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064285C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.151C>A	4.37:g.39064285C>A	ENSP00000423897:p.Arg51Ser					KLHL5_ENST00000504108.1_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	p.R5S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			2	165	+			51					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.13C>A	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761994	0.69763	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.78364	-0.82;-0.88;-0.8;-0.82;-1.17	5.2	5.2	0.72013	.	0.086461	0.45867	D	0.000335	D	0.82724	0.5099	L	0.29908	0.895	0.58432	D	0.999997	D;P;D	0.63046	0.978;0.931;0.992	D;B;D	0.70487	0.969;0.391;0.969	D	0.84906	0.0845	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	51;51;51	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	S	85;5;51;51;51;51	ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S	ENSP00000261425:R5S	R	+	1	0	KLHL5	38740680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.883000	0.56168	2.578000	0.87016	0.650000	0.86243	CGT		0.433	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			10	713	1	0	6.40141e-05	6.40141e-05	0.00117365	10	713					A	39064285	C	A	39064285	3	1	75	1	0	0	0	0	1	0	0	0	8422	884	31	3	153	3	KLHL5	4	39064285	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	34047396	39064285	152089991	129	9524											
KLHL5	51088	broad.mit.edu	37	chr4	39077672	39077672	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagcccttaatcatgcCgagcaaacatttaaaaaaat	4	10	1	0	rs183165327		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39077672C>A	ENST00000504108.1	+	2	892	c.609C>A	c.(607-609)gcC>gcA	p.A203A	KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000261425.3_Silent_p.A157A|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000359687.2_Silent_p.A203A	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	203						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTAATCATGCCGAGCAAACAT	0.368																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(469-471)gcC>gcA		kelch-like family member 5							115	115	115					4																	39077672		2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39077672C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.609C>A	4.37:g.39077672C>A						KLHL5_ENST00000504108.1_Silent_p.A203A|KLHL5_ENST00000359687.2_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000261426.5_Intron	p.A157A	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			3	623	+			203					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.471C>A	CCDS33974.1																																																																																				0.368	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			8	526	1	0	0.000274275	0.000274275	0.0039602	8	526					A	39077672	C	A	39077672	2	1	75	1	0	0	0	0	0	0	0	1	8422	639	23	3		3	KLHL5	4	39077672	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13387	39077672	152076604	130	9525											
GABRA2	2555	broad.mit.edu	37	chr4	46305547	46305547	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggagagaatgacagtcatGatgcaaggcagataggtttg	15	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGACAGTCATGATGCAAGGCA	0.388																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(784-786)atC>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						137	134	135					4																	46305547		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305547G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.786C>A	4.37:g.46305547G>T						GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000356504.1_Silent_p.I262I	p.I262I			P47869	GBRA2_HUMAN			8	959	-			262					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.786C>A	CCDS3471.1																																																																																				0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			51	354	1	0	4.37618e-36	0.000781405	1.78823e-34	51	354					T	46305547	G	T	46305547	2	4	75	1	0	0	0	0	0	0	0	1	6188	1280	45	3		3	GABRA2	4	46305547	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7227875	46305547	144848729	131	9526											
EXOC1	55763	broad.mit.edu	37	chr4	56744167	56744167	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttcatagagatttgctcCgatatgccaagctgatggag	10	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000349598.6_Silent_p.R387R|EXOC1_ENST00000346134.7_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1159-1161)Cga>Aga		exocyst complex component 1							145	131	135					4																	56744167		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744167C>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1159C>A	4.37:g.56744167C>A						EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			9	1507	+	Glioma(25;0.08)|all_neural(26;0.101)		387					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.1159C>A	CCDS3502.1																																																																																				0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		8	427	1	0	0.000442599	0.000442599	0.00556767	8	427					A	56744167	C	A	56744167	2	1	75	1	0	0	0	0	0	0	0	1	5319	644	23	3		3	EXOC1	4	56744167	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10438620	56744167	134410109	132	9527											
EPHA5	2044	broad.mit.edu	37	chr4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatgacagtgcgtgaatcCaataaattcactgaaaagaa	7	9	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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						TGCGTGAATCCAATAAATTCA	0.308										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(190-192)ttG>ttT		EPH receptor A5							48	49	49					4																	66509135		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66509135C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.192G>T	4.37:g.66509135C>A	ENSP00000273854:p.Leu64Phe	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	p.L64F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			2	792	-			64					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.192G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704062	0.68615	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.52	4.45	0.53987	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000538	T	0.32346	0.0826	M	0.86502	2.82	0.46356	D	0.999002	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.999;1.0	T	0.07481	-1.0770	10	0.87932	D	0	.	13.0437	0.58915	0.0:0.8901:0.0:0.1099	.	64;64;64;64	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	64	ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F	ENSP00000273854:L64F	L	-	3	2	EPHA5	66191730	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.486000	0.53215	2.753000	0.94483	0.467000	0.42956	TTG		0.308	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		8	318	1	0	3.09899e-07	0.000274275	9.98704e-06	8	318					A	66509135	C	A	66509135	3	1	75	1	0	0	0	0	1	0	0	0	5188	593	21	3	2989	3	EPHA5	4	66509135	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9764968	66509135	124645141	133	9528											
STAP1	26228	broad.mit.edu	37	chr4	68436855	68436855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actactcttttcttttatacCgacaaaaagagtataatagt	4	7	2	1	rs575858699		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(172-174)acC>acA		signal transducing adaptor family member 1							125	142	137					4																	68436855		2203	4298	6501	SO:0001819	synonymous_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436855C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.174C>A	4.37:g.68436855C>A						STAP1_ENST00000396225.1_Silent_p.T58T	p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			2	256	+			58			PH.		B2R980	Silent	SNP	ENST00000265404.2	37	c.174C>A	CCDS3515.1																																																																																				0.328	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		12	840	1	0	5.50884e-06	0.00010058	0.000142319	12	840					A	68436855	C	A	68436855	2	1	75	1	0	0	0	0	0	0	0	1	15304	639	23	3		3	STAP1	4	68436855	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1927720	68436855	122717421	134	9529											
STAP1	26228	broad.mit.edu	37	chr4	68459057	68459057	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaagaccatttatatgttCaactgatgaaaacactggta	6	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68459057C>A	ENST00000265404.2	+	8	891	c.809C>A	c.(808-810)tCa>tAa	p.S270*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	270	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTTATATGTTCAACTGATGAA	0.333																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(808-810)tCa>tAa		signal transducing adaptor family member 1							142	142	142					4																	68459057		2203	4300	6503	SO:0001587	stop_gained	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68459057C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.809C>A	4.37:g.68459057C>A	ENSP00000265404:p.Ser270*					STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			8	891	+			270			SH2.		B2R980	Nonsense_Mutation	SNP	ENST00000265404.2	37	c.809C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500692	0.96371	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	.	.	.	5.65	4.76	0.60689	.	0.741507	0.12341	N	0.477469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.1624	11.7349	0.51759	0.0:0.8225:0.1775:0.0	.	.	.	.	X	270	.	ENSP00000265404:S270X	S	+	2	0	STAP1	68141652	0.972000	0.33761	0.991000	0.47740	0.883000	0.51084	2.323000	0.43823	2.665000	0.90641	0.650000	0.86243	TCA		0.333	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		9	474	1	0	5.50884e-06	0.00010058	0.000142319	9	474					A	68459057	C	A	68459057	4	1	75	1	0	0	0	0	0	1	0	0	15304	838	29	3	839	3	STAP1	4	68459057	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	22202	68459057	122695219	135	9530											
SLC4A4	8671	broad.mit.edu	37	chr4	72319302	72319302	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatattcaagctctttcGgcaattctcttcatttatct	3	9	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000264485.5	+	12	1530	c.1413G>T	c.(1411-1413)tcG>tcT	p.S471S	SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000351898.6_Silent_p.S471S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471			S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). {ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGCTCTTTCGGCAATTCTCT	0.413																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1279-1281)tcG>tcT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							203	202	202					4																	72319302		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319302G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1413G>T	4.37:g.72319302G>T						SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000264485.5_Silent_p.S471S	p.S427S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		9	1477	+			471					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1281G>T	CCDS43236.1																																																																																				0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		15	713	1	0	3.45872e-05	0.000422831	0.000740545	15	713					T	72319302	G	T	72319302	2	4	75	1	0	0	0	0	0	0	0	1	14706	1103	39	3		3	SLC4A4	4	72319302	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3860245	72319302	118834974	136	9531											
ARHGAP24	83478	broad.mit.edu	37	chr4	86852189	86852189	+	Intron	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaacggtgttttagttttCggaaaggtaggtagataata	11	3	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000395184.1	+	4	857				ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000264343.4_Silent_p.R36R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378																																						ENST00000264343.4																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(106-108)Cgg>Agg		Rho GTPase activating protein 24							57	60	59					4																	86852189		2203	4300	6503	SO:0001627	intron_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86852189C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.391+7266C>A	4.37:g.86852189C>A						ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	p.R36R	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	1	764	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	129			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.106C>A	CCDS34025.1																																																																																				0.378	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		8	300	1	0	0.000157383	0.000157383	0.00254253	8	300					A	86852189	C	A	86852189	1	1	75	0	1	0	0	0	0	0	0	0	873	875	31	3		3	ARHGAP24	4	86852189	Intron	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14532887	86852189	104302087	137	9532											
AFF1	4299	broad.mit.edu	37	chr4	87968161	87968161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccatgccaaaagctgCggcccaccggacagccagca	10	16	1	0	rs549441433		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(451-453)tgC>tgT		AF4/FMR2 family, member 1							79	78	78					4																	87968161		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968161C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.453C>T	4.37:g.87968161C>T						AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	p.C151C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	873	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	151					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.453C>T	CCDS3616.1																																																																																				0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		5	281	0	0	0	0.000602214	0	5	281					T	87968161	C	T	87968161	2	4	75	1	0	0	0	0	0	0	0	1	356	776	27	1		1	AFF1	4	87968161	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1115972	87968161	103186115	138	9533											
KLHL8	57563	broad.mit.edu	37	chr4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacagatccaacaagctccCacctgaaaagacggagaaga	8	12	0	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1741-1743)tGg>tTg		kelch-like family member 8							85	80	82					4																	88084792		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88084792C>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1742G>T	4.37:g.88084792C>A	ENSP00000273963:p.Trp581Leu					KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L	p.W581L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	10	2083	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	581					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1742G>T	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	KLHL8	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG		0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			9	304	1	0	0.000442599	0.000442599	0.00556767	9	304					A	88084792	C	A	88084792	3	1	75	1	0	0	0	0	1	0	0	0	8425	595	21	3	124	3	KLHL8	4	88084792	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	116631	88084792	103069484	139	9534											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		8	385						8	385	---	---	---	---	A	89381266	-	A	89381265	7	5	75	1	0	1	1	0	0	0	0	0	7091	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	1296473	89381265	101773011	140	9535											
DNAJB14	79982	broad.mit.edu	37	chr4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcaattaggcttgctttgatCgccactacctgatggttttc	9	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)Gat>Tat		DnaJ (Hsp40) homolog, subfamily B, member 14							271	240	250					4																	100851701		2203	4300	6503	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100851701C>A	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>T	4.37:g.100851701C>A	ENSP00000404381:p.Asp71Tyr					DNAJB14_ENST00000471738.1_5'UTR	p.D71Y	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	2	365	-			71					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.211G>T	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503702	0.44558	.	.	ENSG00000164031	ENST00000442697	T	0.64618	-0.11	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.56217	0.1970	L	0.36672	1.1	0.23243	N	0.998052	B	0.12630	0.006	B	0.10450	0.005	T	0.53056	-0.8492	10	0.62326	D	0.03	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	Y	71	ENSP00000404381:D71Y	ENSP00000404381:D71Y	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		10	688	1	0	0.000673444	0.000673444	0.00785517	10	688					A	100851701	C	A	100851701	3	1	75	1	0	0	0	0	1	0	0	0	4635	884	31	3	956	3	DNAJB14	4	100851701	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11470436	100851701	90302575	141	9536											
ANK2	287	broad.mit.edu	37	chr4	114274328	114274328	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagatttgatcaaaatgacCgccatcttgaccacagatgt	7	10	2	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1518	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4552-4554)acC>acA		ankyrin 2, neuronal							75	76	76					4																	114274328		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274328C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	4.37:g.114274328C>A						ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	p.T1518T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4607	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1485					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4554C>A	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	522	1	0	0.000673444	0.000673444	0.00785517	9	522					A	114274328	C	A	114274328	2	1	75	1	0	0	0	0	0	0	0	1	621	639	23	3		3	ANK2	4	114274328	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13422627	114274328	76879948	142	9537											
USP53	54532	broad.mit.edu	37	chr4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacatatagattgaaatacCatcagaggcccaagctctct	6	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(3160-3162)Cat>Aat		ubiquitin specific peptidase 53							51	49	50					4																	120214304		1844	4088	5932	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214304C>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3160C>A	4.37:g.120214304C>A	ENSP00000274030:p.His1054Asn					USP53_ENST00000274030.6_Missense_Mutation_p.H1054N	p.H1054N			Q70EK8	UBP53_HUMAN			15	3704	+			1054						Missense_Mutation	SNP	ENST00000274030.6	37	c.3160C>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	USP53	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		9	438	1	0	0.000274275	0.000274275	0.0039602	9	438					A	120214304	C	A	120214304	3	1	75	1	0	0	0	0	1	0	0	0	17138	594	21	3	3218	3	USP53	4	120214304	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5939976	120214304	70939972	143	9538											
FAT4	79633	broad.mit.edu	37	chr4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaacacagagtctggatcGggaaacaaaagagcgctttg	12	7	1	2	rs200719060		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.R2324Q(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6970-6972)cGg>cTg		FAT atypical cadherin 4							236	229	231					4																	126337730		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337730G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6971G>T	4.37:g.126337730G>T	ENSP00000377862:p.Arg2324Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	p.R2324L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6984	+			2324			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6971G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847652	0.71603	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01599	4.74;4.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.32106	U	0.006577	T	0.11196	0.0273	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	D;D	0.69479	0.942;0.964	T	0.02789	-1.1110	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	622;2324	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2324;622	ENSP00000377862:R2324L;ENSP00000335169:R622L	ENSP00000335169:R622L	R	+	2	0	FAT4	126557180	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	9.657000	0.98554	2.493000	0.84123	0.637000	0.83480	CGG		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	631	1	0	0.000219431	0.000219431	0.00342116	9	631					T	126337730	G	T	126337730	3	4	75	1	0	0	0	0	1	0	0	0	5717	1116	39	3	6993	3	FAT4	4	126337730	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6123426	126337730	64816546	144	9539											
SCLT1	132320	broad.mit.edu	37	chr4	129873955	129873955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgaaagttcttctgttaatCgagaaatttgtatattacat	6	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:129873955C>A	ENST00000281142.5	-	14	1690	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGTTAATCGAGAAATTTG	0.264																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1186-1188)cGa>cTa		sodium channel and clathrin linker 1							127	131	129					4																	129873955		2200	4295	6495	SO:0001583	missense	132320					centrosome		g.chr4:129873955C>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1187G>T	4.37:g.129873955C>A	ENSP00000281142:p.Arg396Leu					SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	p.R396L	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			14	1690	-			396					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1187G>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507759	0.27036	.	.	ENSG00000151466	ENST00000281142	T	0.09723	2.95	4.49	-5.45	0.02616	.	0.539905	0.19485	N	0.113122	T	0.09069	0.0224	L	0.46157	1.445	0.20196	N	0.99992	P	0.43701	0.815	B	0.38985	0.287	T	0.01956	-1.1240	9	.	.	.	0.1314	15.4628	0.75373	0.0:0.2633:0.0:0.7367	.	396	Q96NL6	SCLT1_HUMAN	L	396	ENSP00000281142:R396L	.	R	-	2	0	SCLT1	130093405	0.001000	0.12720	0.000000	0.03702	0.636000	0.38137	-0.598000	0.05706	-1.407000	0.02043	-0.136000	0.14681	CGA		0.264	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		10	843	1	0	0.000219431	0.000219431	0.00342116	10	843					A	129873955	C	A	129873955	3	1	75	1	0	0	0	0	1	0	0	0	13956	884	31	3	911	3	SCLT1	4	129873955	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3536225	129873955	61280321	145	9540											
PCDH18	54510	broad.mit.edu	37	chr4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttctgccgtattattaCgcaatgcaggccctataacc	7	11	1	1	rs200753356	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0.0	0.0029	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.002					ENST00000344876.4																			2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207	193	197		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451498C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1745G>A	4.37:g.138451498C>T	ENSP00000355082:p.Arg582His					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron	p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2131	-	all_hematologic(180;0.24)		582			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1745G>A	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		98	749	0	0	0	0.000781405	0	98	749					T	138451498	C	T	138451498	3	4	75	1	0	0	0	0	1	0	0	0	11555	536	19	1	1678	1	PCDH18	4	138451498	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8577543	138451498	52702778	146	9541											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	263						9	263	---	---	---	---	-	140810641	GCT	-	140810639	7	5	75	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-HZ-A77Q-01A-11D-A36O-08	2359141	140810639	50343637	147	9542											
GAB1	2549	broad.mit.edu	37	chr4	144378878	144378878	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaaccccatggtttagagcGaactgattcacaaaccatag	7	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:144378878G>T	ENST00000262994.4	+	7	1887				GAB1_ENST00000262995.4_Missense_Mutation_p.R544L|GAB1_ENST00000505913.1_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTTTAGAGCGAACTGATTCA	0.338																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1630-1632)cGa>cTa		GRB2-associated binding protein 1							55	51	52					4																	144378878		2203	4299	6502	SO:0001627	intron_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144378878G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1586-1660G>T	4.37:g.144378878G>T						GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262994.4_Intron	p.R544L	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			7	2058	+	all_hematologic(180;0.158)		526					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1631G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961256	0.74016	.	.	ENSG00000109458	ENST00000262995	T	0.13657	2.57	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000036	T	0.22475	0.0542	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.14254	-1.0479	10	0.31617	T	0.26	-15.247	18.7266	0.91716	0.0:0.0:1.0:0.0	.	544	Q13480-2	.	L	544	ENSP00000262995:R544L	ENSP00000262995:R544L	R	+	2	0	GAB1	144598328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.426000	0.82243	0.655000	0.94253	CGA		0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		8	341	1	0	0.000442599	0.000442599	0.00556767	8	341					T	144378878	G	T	144378878	1	4	75	0	1	0	0	0	0	0	0	0	6175	1058	37	3		3	GAB1	4	144378878	Intron	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3568239	144378878	46775398	148	9543											
HHIP	64399	broad.mit.edu	37	chr4	145636516	145636516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaccactctgtctcGgcactagtgggtcctgtaga	10	10	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:145636516G>T	ENST00000296575.3	+	10	2267	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	538					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTCTGTCTCGGCACTAGTGG	0.418																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1612-1614)Ggc>Tgc		hedgehog interacting protein							119	110	113					4																	145636516		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636516G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1612G>T	4.37:g.145636516G>T	ENSP00000296575:p.Gly538Cys						p.G538C	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2267	+	all_hematologic(180;0.151)		538					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1612G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199116	0.94997	.	.	ENSG00000164161	ENST00000296575	T	0.06933	3.24	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09400	-1.0676	10	0.87932	D	0	-11.7533	20.6243	0.99512	0.0:0.0:1.0:0.0	.	538	Q96QV1	HHIP_HUMAN	C	538	ENSP00000296575:G538C	ENSP00000296575:G538C	G	+	1	0	HHIP	145855966	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	9.187000	0.94912	2.879000	0.98667	0.650000	0.86243	GGC		0.418	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			9	559	1	0	0.000673444	0.000673444	0.00785517	9	559					T	145636516	G	T	145636516	3	4	75	1	0	0	0	0	1	0	0	0	7122	1116	39	3	1650	3	HHIP	4	145636516	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1257638	145636516	45517760	149	9544											
POU4F2	5458	broad.mit.edu	37	chr4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgtggagcccaagtactCggcactgcacagcacctcgc	11	16	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					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)			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)					CCCAAGTACTCGGCACTGCAC	0.706																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(79-81)tCg>tTg		POU class 4 homeobox 2							16	16	16					4																	147560372		2153	4223	6376	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.chr4:147560372C>T	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.80C>T	4.37:g.147560372C>T	ENSP00000281321:p.Ser27Leu						p.S27L	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	328	+	all_hematologic(180;0.151)		27					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.80C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437096	0.83885	.	.	ENSG00000151615	ENST00000281321	T	0.35048	1.33	4.77	4.77	0.60923	.	1.187410	0.06496	N	0.735449	T	0.48519	0.1504	L	0.27053	0.805	0.58432	D	0.999999	D	0.58620	0.983	P	0.61201	0.885	T	0.18650	-1.0330	10	0.42905	T	0.14	.	15.2933	0.73882	0.0:1.0:0.0:0.0	.	27	Q12837	PO4F2_HUMAN	L	27	ENSP00000281321:S27L	ENSP00000281321:S27L	S	+	2	0	POU4F2	147779822	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.301000	0.78850	2.189000	0.69895	0.561000	0.74099	TCG		0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	77	0	0	0	3.59834e-05	0	6	77					T	147560372	C	T	147560372	3	4	75	1	0	0	0	0	1	0	0	0	12321	893	31	1	82	1	POU4F2	4	147560372	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1923856	147560372	43593904	150	9545											
TMEM184C	55751	broad.mit.edu	37	chr4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgctgttgactattcCtatatcactgtgggtgatat	8	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(181-183)cCt>cAt		transmembrane protein 184C							129	128	129					4																	148545043		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545043C>A	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.182C>A	4.37:g.148545043C>A	ENSP00000296582:p.Pro61His					TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			2	756	+			61					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.182C>A	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780655	0.90195	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41758	0.99;0.99	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.4458	19.5645	0.95388	0.0:1.0:0.0:0.0	.	61	Q9NVA4	T184C_HUMAN	H	61	ENSP00000296582:P61H;ENSP00000425940:P61H	ENSP00000296582:P61H	P	+	2	0	TMEM184C	148764493	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.695000	0.91970	0.557000	0.71058	CCT		0.308	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		8	513	1	0	2.17888e-05	0.000442599	0.00047966	8	513					A	148545043	C	A	148545043	3	1	75	1	0	0	0	0	1	0	0	0	16158	681	24	3	188	3	TMEM184C	4	148545043	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	984671	148545043	42609233	151	9546											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggagtggtttaatgaccCgagcctcagggataaggttg	14	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(967-969)cCg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							109	102	105					4																	160251634		1822	4076	5898	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251634C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.968C>A	4.37:g.160251634C>A	ENSP00000264431:p.Pro323Gln						p.P323Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1387	+	all_hematologic(180;0.24)		323			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.968C>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260007	0.80246	.	.	ENSG00000109756	ENST00000264431	T	0.51071	0.72	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.46819	1.47	0.80722	D	1	B	0.32829	0.386	B	0.43413	0.419	T	0.45483	-0.9258	10	0.37606	T	0.19	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	323	Q9Y4G8	RPGF2_HUMAN	Q	323	ENSP00000264431:P323Q	ENSP00000264431:P323Q	P	+	2	0	RAPGEF2	160471084	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.825000	0.62708	2.894000	0.99253	0.655000	0.94253	CCG		0.343	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		11	537	1	0	1.49906e-05	0.000219431	0.000353665	11	537					A	160251634	C	A	160251634	3	1	75	1	0	0	0	0	1	0	0	0	13094	652	23	3	994	3	RAPGEF2	4	160251634	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11706591	160251634	30902642	152	9547											
TRIM60	166655	broad.mit.edu	37	chr4	165962020	165962020	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaaaacctaaaatgccctGaactcttttcatttagatta	3	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:165962020G>T	ENST00000512596.1	+	3	1012	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	266						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATGCCCTGAACTCTTTTC	0.393																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(796-798)Gaa>Taa		tripartite motif containing 60							58	61	60					4																	165962020		2203	4300	6503	SO:0001587	stop_gained	166655					intracellular	zinc ion binding	g.chr4:165962020G>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.796G>T	4.37:g.165962020G>T	ENSP00000421142:p.Glu266*					TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1012	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	266					Q8NA35	Nonsense_Mutation	SNP	ENST00000512596.1	37	c.796G>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423185	0.62733	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	.	.	.	2.49	1.61	0.23674	.	0.644053	0.12051	U	0.504131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.5572	0.12141	0.1969:0.0:0.8031:0.0	.	.	.	.	X	266	.	ENSP00000343765:E266X	E	+	1	0	TRIM60	166181470	0.000000	0.05858	0.039000	0.18376	0.341000	0.28922	0.596000	0.24044	0.572000	0.29383	0.655000	0.94253	GAA		0.393	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		9	426	1	0	0.000442599	0.000442599	0.00556767	9	426					T	165962020	G	T	165962020	4	4	75	1	0	0	0	0	0	1	0	0	16588	1291	45	3	798	3	TRIM60	4	165962020	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5710386	165962020	25192256	153	9548											
CPE	1363	broad.mit.edu	37	chr4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaatggtggaaaatgatgtCagaaactttaaatttttaaa	9	2	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAAATGATGTCAGAAACTTTA	0.303																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1411-1413)tCa>tAa		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70	72	71					4																	166418743		2201	4295	6496	SO:0001587	stop_gained	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418743C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1412C>A	4.37:g.166418743C>A	ENSP00000386104:p.Ser471*						p.S471*	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1692	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	471					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	37	c.1412C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	39	7.734767	0.98459	.	.	ENSG00000109472	ENST00000402744	.	.	.	6.08	6.08	0.98989	.	0.158173	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7725	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000386104:S471X	S	+	2	0	CPE	166638193	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.891000	0.75639	2.890000	0.99128	0.655000	0.94253	TCA		0.303	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		8	240	1	0	3.86212e-05	0.000673444	0.000778902	8	240					A	166418743	C	A	166418743	4	1	75	1	0	0	0	0	0	1	0	0	3808	838	29	3	1446	3	CPE	4	166418743	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	456723	166418743	24735533	154	9549											
SPOCK3	50859	broad.mit.edu	37	chr4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctggactccaagtgcGgaaataatcatcctaagggg	10	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000535728.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(211-213)Cgc>Agc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							64	67	66					4																	167983676		2201	4296	6497	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167983676G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.211C>A	4.37:g.167983676G>T	ENSP00000349677:p.Arg71Ser					SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000507137.1_5'UTR	p.R71S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	348	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	71					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.211C>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906066	0.72868	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.44;1.46;1.46;1.44;1.44;1.44;1.46;1.46;1.15;2.19;0.81;0.85;0.85	4.61	4.61	0.57282	.	0.144426	0.45606	D	0.000348	T	0.67401	0.2889	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.998;0.997	D;D;D;P;D;D	0.80764	0.978;0.987;0.987;0.89;0.994;0.987	T	0.67385	-0.5684	10	0.37606	T	0.19	5.3673	17.402	0.87463	0.0:0.0:1.0:0.0	.	20;80;68;71;68;71	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	S	71;68;68;71;71;71;68;68;20;68;68;68;71;71	ENSP00000349677:R71S;ENSP00000350153:R68S;ENSP00000425570:R68S;ENSP00000420920:R71S;ENSP00000423421:R71S;ENSP00000423606:R71S;ENSP00000426716:R68S;ENSP00000425502:R68S;ENSP00000411344:R20S;ENSP00000426177:R68S;ENSP00000423367:R68S;ENSP00000424168:R71S;ENSP00000425407:R71S	ENSP00000349677:R71S	R	-	1	0	SPOCK3	168220251	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.187000	0.72039	2.296000	0.77279	0.585000	0.79938	CGC		0.299	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			9	671	1	0	2.17888e-05	0.000442599	0.00047966	9	671					T	167983676	G	T	167983676	3	4	75	1	0	0	0	0	1	0	0	0	15133	1116	39	3	1135	3	SPOCK3	4	167983676	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1564933	167983676	23170600	155	9550											
PALLD	23022	broad.mit.edu	37	chr4	169812152	169812152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcacaaaggatgctgttattCaagacctggaacgaaaactt	9	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:169812152C>A	ENST00000505667.1	+	11	2217	c.2044C>A	c.(2044-2046)Caa>Aaa	p.Q682K	PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K|PALLD_ENST00000335742.7_Missense_Mutation_p.Q524K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	906	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTGTTATTCAAGACCTGGA	0.468									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(1570-1572)Caa>Aaa		palladin, cytoskeletal associated protein							93	90	91					4																	169812152		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169812152C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2044C>A	4.37:g.169812152C>A	ENSP00000425556:p.Gln682Lys					PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q682K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K	p.Q524K			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	12	2927	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	906			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1570C>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866449	0.51588	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.69926	-0.44;-0.39;-0.26;-0.4;0.11	5.44	5.44	0.79542	.	0.000000	0.31268	U	0.007955	T	0.57917	0.2086	L	0.61036	1.89	0.80722	D	1	P;B;B;P	0.39060	0.657;0.451;0.088;0.518	B;B;B;B	0.28232	0.087;0.086;0.025;0.087	T	0.62272	-0.6889	10	0.05959	T	0.93	.	19.2535	0.93935	0.0:1.0:0.0:0.0	.	682;906;300;682	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	K	682;524;682;300;195	ENSP00000261509:Q682K;ENSP00000336735:Q524K;ENSP00000425556:Q682K;ENSP00000426947:Q300K;ENSP00000424016:Q195K	ENSP00000261509:Q682K	Q	+	1	0	PALLD	170048727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.703000	0.84585	2.540000	0.85666	0.591000	0.81541	CAA		0.468	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		7	304	1	0	2.17888e-05	0.000442599	0.00047966	7	304					A	169812152	C	A	169812152	3	1	75	1	0	0	0	0	1	0	0	0	11449	827	29	3	2589	3	PALLD	4	169812152	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1828476	169812152	21342124	156	9551											
WWC2	80014	broad.mit.edu	37	chr4	184190214	184190214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacagaatccattttattCaatgatgtgttcagagtcgc	7	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:184190214C>A	ENST00000403733.3	+	15	2497	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	766	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCATTTTATTCAATGATGTGT	0.448																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2296-2298)ttC>ttA		WW and C2 domain containing 2							170	170	170					4																	184190214		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184190214C>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2298C>A	4.37:g.184190214C>A	ENSP00000384222:p.Phe766Leu					WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L|WWC2_ENST00000506225.1_3'UTR	p.F766L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	15	2497	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	766			C2.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2298C>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170241	0.38315	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;D;T;T;T	0.97066	0.61;-4.23;0.61;0.61;0.61	5.35	2.49	0.30216	C2 calcium/lipid-binding domain, CaLB (1);	0.234157	0.37393	N	0.002115	D	0.92805	0.7712	L	0.33485	1.01	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.002;0.008;0.004	D	0.85874	0.1418	10	0.44086	T	0.13	-12.8872	8.3414	0.32245	0.0:0.625:0.0:0.375	.	766;766;717	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	766;668;717;766;448	ENSP00000384222:F766L;ENSP00000368205:F668L;ENSP00000425054:F717L;ENSP00000398577:F766L;ENSP00000427569:F448L	ENSP00000368205:F668L	F	+	3	2	WWC2	184427208	0.981000	0.34729	0.016000	0.15963	0.868000	0.49771	0.464000	0.21988	0.833000	0.34828	0.555000	0.69702	TTC		0.448	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		10	611	1	0	4.36969e-10	0.000151284	1.67603e-08	10	611					A	184190214	C	A	184190214	3	1	75	1	0	0	0	0	1	0	0	0	17466	825	29	3	2356	3	WWC2	4	184190214	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14378062	184190214	6964062	157	9552											
SEMA5A	9037	broad.mit.edu	37	chr5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggatacggtagccaggccGagcgcgagttttcttggtac	15	9	1	0	rs200772051		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1027-1029)tCg>tAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							88	86	86					5																	9197320		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197320G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1028C>A	5.37:g.9197320G>T	ENSP00000371936:p.Ser343*						p.S343*	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1693	-			343			Sema.		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.1028C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	45	12.020084	0.99627	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7642	0.85520	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000371936:S343X	S	-	2	0	SEMA5A	9250320	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.574000	0.98184	2.621000	0.88768	0.603000	0.83216	TCG		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			13	566	1	0	0.000308642	0.000308642	0.00435582	13	566					T	9197320	G	T	9197320	4	4	75	1	0	0	0	0	0	1	0	0	14087	1059	37	3	2252	3	SEMA5A	5	9197320	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		9197320	171717940	158	9553											
SKIV2L2	23517	broad.mit.edu	37	chr5	54645456	54645456	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaattgattgcttatcCgatgaagataaaaaactccc	6	8	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1294-1296)tcC>tcA		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							71	77	75					5																	54645456		2203	4300	6503	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54645456C>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1296C>A	5.37:g.54645456C>A						SKIV2L2_ENST00000545714.1_Silent_p.S331S	p.S432S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			12	1550	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	432			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.1296C>A	CCDS3967.1																																																																																				0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			9	643	1	0	0.000442599	0.000442599	0.00556767	9	643					A	54645456	C	A	54645456	2	1	75	1	0	0	0	0	0	0	0	1	14410	639	23	3		3	SKIV2L2	5	54645456	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	45448136	54645456	126269804	159	9554											
DDX4	54514	broad.mit.edu	37	chr5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttgtcaagaaaaaatatCaactacaagtattcatgggt	6	6	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1696-1698)tCa>tAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							69	83	78					5																	55109582		2201	4295	6496	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55109582C>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1697C>A	5.37:g.55109582C>A	ENSP00000424838:p.Ser566*					DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*	p.S566*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			19	1789	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	566			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1697C>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851968	0.97885	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	.	.	.	6.17	6.17	0.99709	.	0.279673	0.36167	N	0.002759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.1506	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	532;546;566;532;417	.	ENSP00000334167:S532X	S	+	2	0	DDX4	55145339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.688000	0.54699	2.941000	0.99782	0.655000	0.94253	TCA		0.284	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		9	524	1	0	1.12685e-05	0.000274275	0.000275198	9	524					A	55109582	C	A	55109582	4	1	75	1	0	0	0	0	0	1	0	0	4371	838	29	3	1808	3	DDX4	5	55109582	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	464126	55109582	125805678	160	9555											
HTR1A	3350	broad.mit.edu	37	chr5	63257013	63257013	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggggtccgagcggtcttcCggggtgcgccagcccagcat	16	14	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCGGTCTTCCGGGGTGCGCC	0.597																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(532-534)ccG>ccT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						109	127	121					5																	63257013		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257013C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.534G>T	5.37:g.63257013C>A						RP11-158J3.2_ENST00000502882.1_RNA	p.P178P	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	767	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	178					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.534G>T	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		8	805	1	0	0.000442599	0.000442599	0.00556767	8	805					A	63257013	C	A	63257013	2	1	75	1	0	0	0	0	0	0	0	1	7466	639	23	3		3	HTR1A	5	63257013	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8147431	63257013	117658247	161	9556											
MRPS36	92259	broad.mit.edu	37	chr5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaatacagaaggaaActtgtgtctcaagaagaaat	8	7	2	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(259-261)aaA>aaT		mitochondrial ribosomal protein S36							160	172	168					5																	68524181		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524181A>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.261A>T	5.37:g.68524181A>T	ENSP00000256441:p.Lys87Asn					MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N	p.K87N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	331	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	87					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.261A>T	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	MRPS36	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA		0.373	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		63	514	0	0	0	0.000781405	0	63	514					T	68524181	A	T	68524181	3	4	75	1	0	0	0	0	1	0	0	0	9886	40	2	5	271	5	MRPS36	5	68524181	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	5267168	68524181	112391079	162	9557											
GTF2H2C	728340	broad.mit.edu	37	chr5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttctgaatgctcacttattCgtatgggtaagtgtttttat	9	5	2	1	rs551310033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	GTF2H2 family member C	251					nucleotide-excision repair (GO:0006289)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	core TFIIH complex (GO:0000439)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308																																						ENST00000510979.1																			0				large_intestine(1)|lung(1)	2						c.(751-753)Cgt>Agt		general transcription factor IIH, polypeptide 2C							180	196	191					5																	68875685		2197	4295	6492	SO:0001583	missense	728340				DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr5:68875685C>A		CCDS43325.1	5q13.2	2014-03-28	2014-03-28		ENSG00000183474	ENSG00000183474			31394	protein-coding gene	gene with protein product			"general transcription factor IIH, polypeptide 2C"				Standard	NM_001098728		Approved		uc003jwz.4	Q6P1K8	OTTHUMG00000162365	ENST00000510979.1:c.751C>A	5.37:g.68875685C>A	ENSP00000422907:p.Arg251Ser					GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	p.R251S	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN			11	946	+			251					A6NED9|A8K8J6|B2RCU4|B7ZW39	Missense_Mutation	SNP	ENST00000510979.1	37	c.751C>A	CCDS43325.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455751	0.63401	.	.	ENSG00000183474	ENST00000510979;ENST00000380729;ENST00000508344;ENST00000507595	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	2.83	2.83	0.33086	Ssl1-like (1);	0.111886	0.64402	D	0.000007	T	0.49813	0.1579	M	0.86178	2.8	0.80722	D	1	P	0.43662	0.814	P	0.53518	0.728	T	0.56312	-0.8000	9	.	.	.	-0.779	11.5675	0.50813	0.0:1.0:0.0:0.0	.	251	Q6P1K8	T2H2L_HUMAN	S	251;251;194;234	ENSP00000422907:R251S;ENSP00000370105:R251S;ENSP00000423952:R194S;ENSP00000427456:R234S	.	R	+	1	0	GTF2H2C	68911441	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.622000	0.74233	1.907000	0.55213	0.549000	0.68633	CGT		0.308	GTF2H2C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368637.3	NM_001098728		15	1492	1	0	5.18039e-06	0.000157383	0.000141431	15	1492					A	68875685	C	A	68875685	3	1	75	1	0	0	0	0	1	0	0	0	6892	884	31	3	789	3	GTF2H2C	5	68875685	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	351504	68875685	112039575	163	9558											
VCAN	1462	broad.mit.edu	37	chr5	82868255	82868255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatacgagaattggagaccCaaccagccagacagcttctt	8	12	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000343200.5_Silent_p.P2265P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	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)			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)	ATTGGAGACCCAACCAGCCAG	0.423																																						ENST00000265077.3																			0				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						c.(9754-9756)ccC>ccA		versican							131	131	131					5																	82868255		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.chr5:82868255C>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.9756C>A	5.37:g.82868255C>A						VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000502527.2_Silent_p.P511P	p.P3252P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	13	10321	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3252			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9756C>A	CCDS4060.1																																																																																				0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	630	1	0	1.58986e-06	0.000673444	4.62318e-05	8	630					A	82868255	C	A	82868255	2	1	75	1	0	0	0	0	0	0	0	1	17192	581	21	3		3	VCAN	5	82868255	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13992570	82868255	98047005	164	9559											
MEF2C	4208	broad.mit.edu	37	chr5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccataatcctcgtaatctGaatcttttttctccccatag	3	12	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000437473.2	-	2	436	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)																												ENST00000504921.2																			3	Substitution - Missense(3)	p.Q7E(3)	lung(3)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(19-21)Cag>Aag		myocyte enhancer factor 2C							304	304	304					5																	88119587		1825	4071	5896	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119587G>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.19C>A	5.37:g.88119587G>T	ENSP00000396219:p.Gln7Lys	HNSCC(66;0.2)				MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K	p.Q7K			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	691	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	7			Lys-rich (basic).|MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.19C>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG		0.343	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		22	1138	1	0	0.00074312	0.00074312	0.00863566	22	1138					T	88119587	G	T	88119587	3	4	75	1	0	0	0	0	1	0	0	0	9498	1299	45	3	1584	3	MEF2C	5	88119587	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5251332	88119587	92795673	165	9560											
LYSMD3	116068	broad.mit.edu	37	chr5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcaaaatttcctgttgttCggaagagtattgaacagatg	11	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(418-420)Gaa>Taa		LysM, putative peptidoglycan-binding, domain containing 3							124	116	119					5																	89815139		1856	4092	5948	SO:0001587	stop_gained	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815139C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.418G>T	5.37:g.89815139C>A	ENSP00000314518:p.Glu140*					LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	p.E140*	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	562	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	140					Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	ENST00000315948.6	37	c.418G>T	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.373	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		14	486	1	0	0.000308642	0.000308642	0.00435582	14	486					A	89815139	C	A	89815139	4	1	75	1	0	0	0	0	0	1	0	0	9165	893	31	3	506	3	LYSMD3	5	89815139	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1695552	89815139	91100121	166	9561											
FBN2	2201	broad.mit.edu	37	chr5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagcactgcattttcGtcattctccccgggagctct	8	15	3	0	rs371826887		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		CTGCATTTTCGTCATTCTCCC	0.542																																						ENST00000508053.1																			0				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						c.(1150-1152)aCg>aTg		fibrillin 2		G	MET/THR	0,4406		0,0,2203	87	80	82		1151	4.4	1	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	384/2913	127730895	1,13005	2203	4300	6503	SO:0001583	missense	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.chr5:127730895G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1151C>T	5.37:g.127730895G>A	ENSP00000424571:p.Thr384Met					FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M	p.T384M			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	2125	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	384			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1151C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	FBN2	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG		0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		23	163	0	0	0	0.000229342	0	23	163					A	127730895	G	A	127730895	3	1	75	1	0	0	0	0	1	0	0	0	5728	1145	40	1	7815	1	FBN2	5	127730895	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	37915756	127730895	53184365	167	9562											
ACSL6	23305	broad.mit.edu	37	chr5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctctttcagggcttcttcGaatgggtccatgaggatgat	11	9	3	2	rs374665597		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379240.1	-	7	843	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|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)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(763-765)ttC>ttA		acyl-CoA synthetase long-chain family member 6							307	281	290					5																	131323807		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323807G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.690C>A	5.37:g.131323807G>T	ENSP00000368542:p.Phe230Leu					ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L	p.F255L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	873	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	230					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.765C>A		.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	ACSL6	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		13	877	1	0	0.000308642	0.000308642	0.00435582	13	877					T	131323807	G	T	131323807	3	4	75	1	0	0	0	0	1	0	0	0	181	1049	37	3	1545	3	ACSL6	5	131323807	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3592912	131323807	49591453	168	9563											
ZCCHC10	54819	broad.mit.edu	37	chr5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttacgcttgtctccgggCtattagccgatgcatgggag	12	10	1	0	rs143508297		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000509437.1	-	1	35	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642																																						ENST00000324170.3																			0				skin(1)	1						c.(28-30)Gcc>Acc		zinc finger, CCHC domain containing 10							29	29	29					5																	132362202		2203	4300	6503	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132362202C>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.28G>A	5.37:g.132362202C>T	ENSP00000423276:p.Ala10Thr					ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T	p.A10T	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	94	-			10					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.28G>A		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	ZCCHC10	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC		0.642	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		21	178	0	0	0	0.00047179	0	21	178					T	132362202	C	T	132362202	3	4	75	1	0	0	0	0	1	0	0	0	17632	797	28	2	500	2	ZCCHC10	5	132362202	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1038395	132362202	48553058	169	9564											
FAM13B	51306	broad.mit.edu	37	chr5	137278825	137278825	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctttaaaggattaccttGatttcttcaaaaaaatgtgc	5	6	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(2353-2355)atC>atA		family with sequence similarity 13, member B							95	97	96					5																	137278825		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137278825G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2355C>A	5.37:g.137278825G>T						FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I	p.I785I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			20	2806	-			785					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.2355C>A	CCDS4195.1																																																																																				0.363	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			8	363	1	0	0.000274275	0.000274275	0.0039602	8	363					T	137278825	G	T	137278825	2	4	75	1	0	0	0	0	0	0	0	1	5474	1280	45	3		3	FAM13B	5	137278825	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4916623	137278825	43636435	170	9565											
RNF14	9604	broad.mit.edu	37	chr5	141354446	141354446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacttgtgctgaactttGaactgccaccagattatcca	6	13	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:141354446G>T	ENST00000394520.2	+	4	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000394514.2_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(232-234)Gaa>Taa		ring finger protein 14							181	160	167					5																	141354446		2203	4300	6503	SO:0001587	stop_gained	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141354446G>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.232G>T	5.37:g.141354446G>T	ENSP00000378028:p.Glu78*					RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*	p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	541	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	78			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Nonsense_Mutation	SNP	ENST00000394520.2	37	c.232G>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453940	0.96223	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	.	.	.	5.87	5.87	0.94306	.	0.045006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000324956:E78X	E	+	1	0	RNF14	141334630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.774000	0.95407	0.650000	0.86243	GAA		0.413	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		12	890	1	0	1.49906e-05	0.000219431	0.000353665	12	890					T	141354446	G	T	141354446	4	4	75	1	0	0	0	0	0	1	0	0	13493	1291	45	3	238	3	RNF14	5	141354446	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4075621	141354446	39560814	171	9566											
FAT2	2196	broad.mit.edu	37	chr5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtagctccccctttttgGggtgaatggtgaagtgccca	12	11	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30. {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)			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)			CCCCTTTTTGGGGTGAATGGT	0.562																																						ENST00000261800.5																			0				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						c.(10117-10119)cCc>cAc		FAT atypical cadherin 2							113	102	106					5																	150907603		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.chr5:150907603G>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.10118C>A	5.37:g.150907603G>T	ENSP00000261800:p.Pro3373His						p.P3373H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	10130	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3373			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10118C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953301	0.92660	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.73806	0.3634	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74757	-0.3557	10	0.66056	D	0.02	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3373;564	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	3373	ENSP00000261800:P3373H	ENSP00000261800:P3373H	P	-	2	0	FAT2	150887796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.349000	0.97066	2.707000	0.92482	0.643000	0.83706	CCC		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	341	1	0	1.58986e-06	0.000673444	4.62318e-05	8	341					T	150907603	G	T	150907603	3	4	75	1	0	0	0	0	1	0	0	0	5715	1232	43	3	2967	3	FAT2	5	150907603	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9553157	150907603	30007657	172	9567											
FAM114A2	10827	broad.mit.edu	37	chr5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctgttttgtggaatagttCaattgagcaggcagtcagtt	12	5	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1171-1173)Gaa>Taa		family with sequence similarity 114, member A2							136	129	131					5																	153381896		2203	4300	6503	SO:0001587	stop_gained	10827						purine nucleotide binding	g.chr5:153381896C>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1171G>T	5.37:g.153381896C>A	ENSP00000341597:p.Glu391*					FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*	p.E391*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			11	1247	-			391					B2R8D8|Q9H7E0	Nonsense_Mutation	SNP	ENST00000351797.4	37	c.1171G>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870452	0.97901	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.3981	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	391;391;391;321	.	ENSP00000341597:E391X	E	-	1	0	FAM114A2	153362089	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.954000	0.70298	2.834000	0.97654	0.655000	0.94253	GAA		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		9	491	1	0	6.40141e-05	6.40141e-05	0.00117365	9	491					A	153381896	C	A	153381896	4	1	75	1	0	0	0	0	0	1	0	0	5425	835	29	3	362	3	FAM114A2	5	153381896	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2474293	153381896	27533364	173	9568											
GABRG2	2566	broad.mit.edu	37	chr5	161578743	161578743	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaacccaaagcttcttcGgatgttttccttcaaggtat	6	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:161578743G>T	ENST00000361925.4	+	9	1348				GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000356592.3_Missense_Mutation_p.R379L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|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)	AAGCTTCTTCGGATGTTTTCC	0.279																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1135-1137)cGg>cTg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							86	89	88					5																	161578743		2202	4297	6499	SO:0001627	intron_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161578743G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1129-1356G>T	5.37:g.161578743G>T						GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000361925.4_Intron	p.R379L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	376					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1136G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973387	0.53614	.	.	ENSG00000113327	ENST00000356592;ENST00000414552	D;D	0.86297	-2.1;-2.1	5.84	5.84	0.93424	.	1.959290	0.02012	N	0.047077	D	0.84777	0.5547	N	0.22421	0.69	0.80722	D	1	B;B	0.22146	0.0;0.065	B;B	0.18263	0.003;0.021	T	0.47787	-0.9090	10	0.25751	T	0.34	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	419;379	F5HB82;P18507-2	.;.	L	379;419	ENSP00000349000:R379L;ENSP00000410732:R419L	ENSP00000349000:R379L	R	+	2	0	GABRG2	161511321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.843000	0.92142	2.764000	0.94973	0.650000	0.86243	CGG		0.279	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			8	500	1	0	6.40141e-05	6.40141e-05	0.00117365	8	500					T	161578743	G	T	161578743	1	4	75	0	1	0	0	0	0	0	0	0	6199	1116	39	3		3	GABRG2	5	161578743	Intron	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8196847	161578743	19336517	174	9569											
NSD1	64324	broad.mit.edu	37	chr5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacaaggacagccctttcGgtaatggtcaatccaatttt	8	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000511258.1_Splice_Site_p.S10S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(97-99)Ggt>Tgt		nuclear receptor binding SET domain protein 1							134	123	127					5																	176562201		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562201G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.97G>T	5.37:g.176562201G>T	ENSP00000395929:p.Gly33Cys	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000354179.4_Splice_Site_p.S10_splice|NSD1_ENST00000511258.1_Splice_Site_p.S10_splice|NSD1_ENST00000347982.4_Splice_Site_p.S10_splice	p.G33C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	142	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	33					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.97G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	NSD1	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	577	1	0	2.31682e-05	0.000308642	0.000501203	12	577					T	176562201	G	T	176562201	3	4	75	1	0	0	0	0	1	0	0	0	10711	1130	39	3	99	3	NSD1	5	176562201	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	14983458	176562201	4353059	175	9570											
MYLK4	340156	broad.mit.edu	37	chr6	2671572	2671574	+	In_Frame_Del	DEL	TTC	TTC	-													cctgggcatcagagccacgaTtcttcttcttctagggaaag							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:2671572_2671574delTTC	ENST00000274643.7	-	12	1470_1472	c.1128_1130delGAA	c.(1126-1131)aagaat>aat	p.K376del	MYLK4_ENST00000268446.5_In_Frame_Del_p.K376del	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	376						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAGCCACGATTCTTCTTCTTCT	0.473																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1126-1131)aat>aa		myosin light chain kinase family, member 4																																				SO:0001651	inframe_deletion	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2671572_2671574delTTC		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.1128_1130delGAA	6.37:g.2671581_2671583delTTC	ENSP00000274643:p.Lys376del					MYLK4_ENST00000268446.5_In_Frame_Del_p.KN376del	p.KN376del	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			12	1470_1472	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	376					A2RUC0|Q5TAW2	In_Frame_Del	DEL	ENST00000274643.7	37	c.1128_1130delGAA	CCDS34330.1																																																																																				0.473	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		7	546						7	546	---	---	---	---	-	2671574	TTC	-	2671572	7	5	75	1	0	1	0	1	0	0	0	0	10100	1493	52	0	40	0	MYLK4	6	2671572	In_Frame_Del	DEL	TTC	TCGA-HZ-A77Q-01A-11D-A36O-08		2671572	168443495	176	9571											
KDM1B	7913	broad.mit.edu	37	chr6	18222194	18222194	+	IGR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggcatatttgagtggcgttCgagaagcaagcaagattgca	14	6	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:18222194C>A	ENST00000397239.3	-	0	3427				KDM1B_ENST00000388870.2_Silent_p.R815R|KDM1B_ENST00000546309.2_Silent_p.R105R|KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000397244.1_Silent_p.R583R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GAGTGGCGTTCGAGAAGCAAG	0.403			T	NUP214	AML																																	ENST00000388870.2				Dom	yes		6	6p23	7913		DEK oncogene (DNA binding)			L					0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2443-2445)Cga>Aga		lysine (K)-specific demethylase 1B							160	151	154					6																	18222194		2203	4300	6503	SO:0001628	intergenic_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18222194C>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319		6.37:g.18222194C>A						KDM1B_ENST00000397244.1_Silent_p.R583R|KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R	p.R815R			Q8NB78	KDM1B_HUMAN			22	2684	+			814					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	c.2443C>A	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	9.377	1.071910	0.20147	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.72179	0.3428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68588	-0.5369	4	.	.	.	-6.628	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	L	631	.	.	F	+	3	2	KDM1B	18330173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.740000	0.68629	2.824000	0.97209	0.655000	0.94253	TTC		0.403	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			9	515	1	0	6.40141e-05	6.40141e-05	0.00117365	9	515					A	18222194	C	A	18222194	1	1	75	0	1	0	0	0	0	0	0	0	8153	876	31	3		3	KDM1B	6	18222194	IGR	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15550622	18222194	152892873	177	9572											
CDKAL1	54901	broad.mit.edu	37	chr6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagcacgattggatttgcCgaagattaggaagaatccac	13	7	0	2	rs368733380		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000378610.1	+	6	600	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|CDKAL1_ENST00000274695.4_Missense_Mutation_p.P197Q			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(589-591)cCg>cAg		CDK5 regulatory subunit associated protein 1-like 1							129	127	127					6																	20781448		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20781448C>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.590C>A	6.37:g.20781448C>A	ENSP00000367873:p.Pro197Gln					RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378610.1_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q	p.P197Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		8	757	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		197					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.590C>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056802	0.93793	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.22743	1.94;1.94;1.94	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.92691	3.335	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.933	T	0.63611	-0.6598	10	0.87932	D	0	.	20.5837	0.99426	0.0:1.0:0.0:0.0	.	127;197	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	Q	197;127;197	ENSP00000274695:P197Q;ENSP00000367889:P127Q;ENSP00000367873:P197Q	ENSP00000274695:P197Q	P	+	2	0	CDKAL1	20889427	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	7.477000	0.81069	2.871000	0.98454	0.638000	0.83543	CCG		0.388	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		7	389	1	0	0.000274275	0.000274275	0.0039602	7	389					A	20781448	C	A	20781448	3	1	75	1	0	0	0	0	1	0	0	0	3161	652	23	3	612	3	CDKAL1	6	20781448	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2559254	20781448	150333619	178	9573											
BTN1A1	696	broad.mit.edu	37	chr6	26501880	26501880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggtgaggacgccgagCtgccctgtcgcctgtctccg	15	13	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(142-144)Ctg>Ttg		butyrophilin, subfamily 1, member A1							36	37	37					6																	26501880		2199	4288	6487	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501880C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.142C>T	6.37:g.26501880C>T							p.L48L	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			2	208	+			48			Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.142C>T	CCDS4614.1																																																																																				0.647	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		13	248	0	0	0	0.000151284	0	13	248					T	26501880	C	T	26501880	2	4	75	1	0	0	0	0	0	0	0	1	1563	796	28	2		2	BTN1A1	6	26501880	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5720432	26501880	144613187	179	9574											
SCAND3	114821	broad.mit.edu	37	chr6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagatctacttggcatcttGaactaacttccttaattgat	5	8	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1117-1119)tCa>tAa		SCAN domain containing 3							114	117	116					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*						p.S373*	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1735	-			373			Integrase catalytic.			Nonsense_Mutation	SNP	ENST00000452236.2	37	c.1118C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			9	548	1	0	1.12685e-05	0.000274275	0.000275198	9	548					T	28543364	G	T	28543364	4	4	75	1	0	0	0	0	0	1	0	0	13926	1294	45	3	2867	3	SCAND3	6	28543364	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2041484	28543364	142571703	180	9575											
C6orf136	221545	broad.mit.edu	37	chr6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacaggggccggacatGgtacattctttcactgaccc	9	13	4	1	rs554711801		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000376473.5	+	4	734	c.575G>T	c.(574-576)tGg>tTg	p.W192L	C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1117-1119)tGg>tTg		chromosome 6 open reading frame 136							254	255	255					6																	30619054		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619054G>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.575G>T	6.37:g.30619054G>T	ENSP00000365656:p.Trp192Leu					C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L	p.W373L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			4	1311	+			192					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1118G>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	C6orf136	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG		0.493	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		17	1621	1	0	2.31682e-05	0.000308642	0.000501203	17	1621					T	30619054	G	T	30619054	3	4	75	1	0	0	0	0	1	0	0	0	2338	1357	47	3	1132	3	C6orf136	6	30619054	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2075690	30619054	140496013	181	9576											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	310						7	310	---	---	---	---	T	31975224	-	T	31975223	6	5	75	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	1356169	31975223	139139844	182	9577											
TNXB	7148	broad.mit.edu	37	chr6	32046907	32046907	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctctaggcctcccacGgtgacctcactctccttgcc	9	19	3	1	rs375254727		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4276-4278)acC>acA		tenascin XB							84	97	93					6																	32046907		1309	2566	3875	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046907G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4278C>A	6.37:g.32046907G>T						TNXB_ENST00000375247.2_Silent_p.T1426T	p.T1426T			P22105	TENX_HUMAN			11	4479	-			1513			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4278C>A																																																																																					0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	453	1	0	3.86212e-05	0.000673444	0.000778902	10	453					T	32046907	G	T	32046907	2	4	75	1	0	0	0	0	0	0	0	1	16398	1103	39	3		3	TNXB	6	32046907	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	71684	32046907	139068160	183	9578											
GRM4	2914	broad.mit.edu	37	chr6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgcacgtgaccatgaGcagcatgctgtagcccagca	12	13	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	763					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGACCATGAGCAGCATGCTG	0.602																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2287-2289)Ctc>Ttc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						116	87	96					6																	34003600		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003600G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2287C>T	6.37:g.34003600G>A	ENSP00000440556:p.Leu763Phe					GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000538487.1_Missense_Mutation_p.L763F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.1_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_Missense_Mutation_p.L455F	p.L763F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2456	-			763					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2287C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	GRM4	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			18	162	0	0	0	0.000132079	0	18	162					A	34003600	G	A	34003600	3	1	75	1	0	0	0	0	1	0	0	0	6829	971	34	2	463	2	GRM4	6	34003600	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1956693	34003600	137111467	184	9579											
PHF3	23469	broad.mit.edu	37	chr6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacaaggtagaagaaaattCagtgagatctccaagaaaat	10	5	2	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(364-366)tCa>tAa		PHD finger protein 3							152	150	151					6																	64390021		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64390021C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.365C>A	6.37:g.64390021C>A	ENSP00000262043:p.Ser122*					PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*	p.S122*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	705	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		122					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.365C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.065655	0.97251	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.98	5.98	0.97165	.	0.000000	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.529	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	34;122;75;122;122;52	.	ENSP00000262043:S122X	S	+	2	0	PHF3	64447980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.034000	0.57289	2.838000	0.97847	0.591000	0.81541	TCA		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	491	1	0	5.01169e-05	0.000566183	0.0010075	14	491					A	64390021	C	A	64390021	4	1	75	1	0	0	0	0	0	1	0	0	11878	838	29	3	371	3	PHF3	6	64390021	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	30386421	64390021	106725046	185	9580											
KCNQ5	56479	broad.mit.edu	37	chr6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccttgtctttggttgcttGattttgtcagtgttttctac	8	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000370398.1	+	2	532	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGTTGCTTGATTTTGTCAG	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(421-423)ttG>ttT		potassium voltage-gated channel, KQT-like subfamily, member 5							211	172	185					6																	73713655		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713655G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.423G>T	6.37:g.73713655G>T	ENSP00000359425:p.Leu141Phe					KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F	p.L141F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	821	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	141					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.423G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237974	0.79800	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.98563	0.9520	M	0.73962	2.25	0.50813	D	0.999893	P;D;D;D;D;D	0.89917	0.86;1.0;0.989;0.994;1.0;1.0	P;D;P;D;D;D	0.85130	0.743;0.997;0.824;0.915;0.993;0.994	D	0.99264	1.0891	10	0.62326	D	0.03	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	141	ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F	ENSP00000345055:L141F	L	+	3	2	KCNQ5	73770376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	TTG		0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	388	1	0	0.000673444	0.000673444	0.00785517	8	388					T	73713655	G	T	73713655	3	4	75	1	0	0	0	0	1	0	0	0	8116	1281	45	3	429	3	KCNQ5	6	73713655	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9323634	73713655	97401412	186	9581											
SENP6	26054	broad.mit.edu	37	chr6	76425185	76425185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaaagagaagaaatcCgaaacataattctgaagcta	7	6	1	3	rs184895201		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125	118	120					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	6.37:g.76425185C>A						SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000447266.2_Silent_p.R1072R	p.R1072R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		9	469	1	0	7.48243e-07	0.000442599	2.35076e-05	9	469					A	76425185	C	A	76425185	2	1	75	1	0	0	0	0	0	0	0	1	14100	644	23	3		3	SENP6	6	76425185	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2711530	76425185	94689882	187	9582											
TTK	7272	broad.mit.edu	37	chr6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgcacaatttgaactgtCacaaggtaatctgaaaatgt	7	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000369798.2	+	4	575	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	155					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(463-465)tCa>tAa		TTK protein kinase							60	53	55					6																	80718204		2203	4298	6501	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80718204C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.464C>A	6.37:g.80718204C>A	ENSP00000358813:p.Ser155*					TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S155*	p.S155*			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	4	1293	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	155					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.464C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	43	10.343241	0.99387	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040	.	.	.	6.16	6.16	0.99307	.	0.060757	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000230510:S155X	S	+	2	0	TTK	80774923	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.998000	0.63927	2.937000	0.99478	0.650000	0.86243	TCA		0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			9	405	1	0	1.58986e-06	0.000673444	4.62318e-05	9	405					A	80718204	C	A	80718204	4	1	75	1	0	0	0	0	0	1	0	0	16774	838	29	3	474	3	TTK	6	80718204	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4293019	80718204	90396863	188	9583											
KLHL32	114792	broad.mit.edu	37	chr6	97575296	97575296	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggtggagtaactaatacGgcacaatatcagaacaggct	10	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:97575296G>T	ENST00000369261.4	+	8	1734	c.1371G>T	c.(1369-1371)acG>acT	p.T457T	KLHL32_ENST00000544166.1_Silent_p.T13T|KLHL32_ENST00000539200.1_Silent_p.T388T|KLHL32_ENST00000536676.1_Silent_p.T421T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	457										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAACTAATACGGCACAATATC	0.318																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1369-1371)acG>acT		kelch-like family member 32							149	155	153					6																	97575296		2203	4299	6502	SO:0001819	synonymous_variant	114792							g.chr6:97575296G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1371G>T	6.37:g.97575296G>T						KLHL32_ENST00000544166.1_Silent_p.T13T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000539200.1_Silent_p.T388T	p.T457T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	8	1734	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	457					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1371G>T	CCDS5038.1																																																																																				0.318	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		9	707	1	0	0.000442599	0.000442599	0.00556767	9	707					T	97575296	G	T	97575296	2	4	75	1	0	0	0	0	0	0	0	1	8416	1103	39	3		3	KLHL32	6	97575296	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16857092	97575296	73539771	189	9584											
SEC63	11231	broad.mit.edu	37	chr6	108233927	108233927	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaatgcactcaccagaattGagtttttctggtcaactatc	6	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:108233927G>T	ENST00000369002.4	-	6	745	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	189					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACCAGAATTGAGTTTTTCTG	0.318																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(565-567)tCa>tAa		SEC63 homolog (S. cerevisiae)							37	38	37					6																	108233927		2203	4300	6503	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108233927G>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.566C>A	6.37:g.108233927G>T	ENSP00000357998:p.Ser189*						p.S189*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	6	745	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	189					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.566C>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396668	0.96009	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6283	17.1599	0.86801	0.0:0.0:1.0:0.0	.	.	.	.	X	189;49;133	.	ENSP00000357998:S189X	S	-	2	0	SEC63	108340620	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.879000	0.92398	2.480000	0.83734	0.555000	0.69702	TCA		0.318	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	293	1	0	1.12685e-05	0.000274275	0.000275198	7	293					T	108233927	G	T	108233927	4	4	75	1	0	0	0	0	0	1	0	0	14055	1294	45	3	1780	3	SEC63	6	108233927	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10658631	108233927	62881140	190	9585											
MCM9	254394	broad.mit.edu	37	chr6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagtattcccaaaaatcttcGaattccttttggacctcctc	4	12	1	0	rs564191556		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(862-864)ttC>ttA		minichromosome maintenance complex component 9							118	111	113					6																	119238766		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119238766G>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.864C>A	6.37:g.119238766G>T	ENSP00000314505:p.Phe288Leu					MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	5	1150	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	288					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.864C>A	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	MCM9	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC		0.378	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		11	660	1	0	0.000151284	0.000151284	0.00252221	11	660					T	119238766	G	T	119238766	3	4	75	1	0	0	0	0	1	0	0	0	9435	1049	37	3	323	3	MCM9	6	119238766	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11004839	119238766	51876301	191	9586											
GJA1	2697	broad.mit.edu	37	chr6	121768514	121768514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcttgctgatccagtGgtacatctatggattcagct	10	10	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:121768514G>T	ENST00000282561.3	+	2	678	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	174					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATCCAGTGGTACATCTAT	0.498																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(520-522)tGg>tTg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						114	107	109					6																	121768514		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768514G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.521G>T	6.37:g.121768514G>T	ENSP00000282561:p.Trp174Leu						p.W174L	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	678	+			174					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.521G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565281	0.65651	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.95103	-3.61	5.66	5.66	0.87406	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	M	0.78223	2.4	0.80722	D	1	P	0.50710	0.938	P	0.52598	0.703	D	0.95969	0.8968	10	0.87932	D	0	.	19.7409	0.96230	0.0:0.0:1.0:0.0	.	174	P17302	CXA1_HUMAN	L	158;174	ENSP00000282561:W174L	ENSP00000282561:W174L	W	+	2	0	GJA1	121810213	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.759000	0.74934	2.682000	0.91365	0.460000	0.39030	TGG		0.498	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		8	418	1	0	0.000442599	0.000442599	0.00556767	8	418					T	121768514	G	T	121768514	3	4	75	1	0	0	0	0	1	0	0	0	6429	1357	47	3	523	3	GJA1	6	121768514	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2529748	121768514	49346553	192	9587											
LAMA2	3908	broad.mit.edu	37	chr6	129636778	129636778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctttttattggaaacttcCagaacaatttgaaggaaaga	7	6	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:129636778C>A	ENST00000421865.2	+	25	3762	c.3713C>A	c.(3712-3714)cCa>cAa	p.P1238Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAAACTTCCAGAACAATTT	0.373																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3712-3714)cCa>cAa		laminin, alpha 2							103	100	101					6																	129636778		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636778C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3713C>A	6.37:g.129636778C>A	ENSP00000400365:p.Pro1238Gln						p.P1238Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3762	+			1238			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3713C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617032	0.87359	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.73258	-0.73	5.76	5.76	0.90799	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86719	0.1941	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	1238;1238	A6NF00;P24043	.;LAMA2_HUMAN	Q	1238	ENSP00000400365:P1238Q	ENSP00000346769:P1238Q	P	+	2	0	LAMA2	129678471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.402000	0.79972	2.871000	0.98454	0.655000	0.94253	CCA		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	307	1	0	0.000157383	0.000157383	0.00254253	7	307					A	129636778	C	A	129636778	3	1	75	1	0	0	0	0	1	0	0	0	8637	594	21	3	3811	3	LAMA2	6	129636778	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7868264	129636778	41478289	193	9588											
PPIL4	85313	broad.mit.edu	37	chr6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccatttaacctttgcaaccGactggctaaaatccacatgt	5	12	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(952-954)tCg>tAg		peptidylprolyl isomerase (cyclophilin)-like 4							177	179	178					6																	149842225		2202	4299	6501	SO:0001587	stop_gained	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149842225G>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.953C>A	6.37:g.149842225G>T	ENSP00000253329:p.Ser318*						p.S318*	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	10	985	-		Ovarian(120;0.0164)	318			RRM.		B2RD34|Q7Z3Q5	Nonsense_Mutation	SNP	ENST00000253329.2	37	c.953C>A	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	PPIL4	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG		0.333	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			9	558	1	0	0.000673444	0.000673444	0.00785517	9	558					T	149842225	G	T	149842225	4	4	75	1	0	0	0	0	0	1	0	0	12376	1059	37	3	541	3	PPIL4	6	149842225	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	20205447	149842225	21272842	194	9589											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125	136	132					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	7	862						7	862	---	---	---	---	-	152539540	T	-	152539540	8	5	75	1	0	1	0	1	0	0	1	0	15497	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	2697315	152539540	18575527	195	9590											
MLLT4	4301	broad.mit.edu	37	chr6	168265341	168265341	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaccactcaagatgtaatCgaaacgctcgcggagaaatt	9	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000447894.2	+	2	216	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000366806.2_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(214-216)atC>atA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							190	203	199					6																	168265341		2203	4296	6499	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265341C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.216C>A	6.37:g.168265341C>A						MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I	p.I72I			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	358	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	72			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.216C>A																																																																																					0.438	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		9	950	1	0	0.000274275	0.000274275	0.0039602	9	950					A	168265341	C	A	168265341	2	1	75	1	0	0	0	0	0	0	0	1	9670	874	31	3		3	MLLT4	6	168265341	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15725801	168265341	2849726	196	9591											
OSBPL3	26031	broad.mit.edu	37	chr7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-													atcaatgcagccatgcagctTctctctctctatctgcagag							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.5	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	483						7	483	---	---	---	---	-	24910453	TC	-	24910452	7	5	75	1	0	1	0	1	0	0	0	0	11321	1792	62	0	2459	0	OSBPL3	7	24910452	Frame_Shift_Del	DEL	TC	TCGA-HZ-A77Q-01A-11D-A36O-08		24910452	134228211	197	9592											
NEUROD6	63974	broad.mit.edu	37	chr7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgttcgcttcctgtctcctGaacttgaccctttccaatcg	7	15	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(280-282)ttC>ttA		neuronal differentiation 6							258	253	255					7																	31378601		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378601G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.282C>A	7.37:g.31378601G>T	ENSP00000297142:p.Phe94Leu						p.F94L	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	604	-			94					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.282C>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553653	0.03996	.	.	ENSG00000164600	ENST00000297142	D	0.94576	-3.46	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (1);	0.108239	0.64402	D	0.000011	D	0.86070	0.5845	N	0.11064	0.09	0.41174	D	0.98618	B	0.02656	0.0	B	0.01281	0.0	T	0.81263	-0.1012	10	0.06891	T	0.86	-22.1205	14.1906	0.65635	0.0:0.0:0.8505:0.1495	.	94	Q96NK8	NDF6_HUMAN	L	94	ENSP00000297142:F94L	ENSP00000297142:F94L	F	-	3	2	NEUROD6	31345126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.569000	0.86673	0.650000	0.86243	TTC		0.498	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		15	805	1	0	2.4624e-09	0.000132079	9.16363e-08	15	805					T	31378601	G	T	31378601	3	4	75	1	0	0	0	0	1	0	0	0	10393	1281	45	3	735	3	NEUROD6	7	31378601	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6468149	31378601	127760062	198	9593											
STARD3NL	83930	broad.mit.edu	37	chr7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcacctttgacctcttattCgtaacattactgtggataat	6	9	2	1	rs553968130	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)ttC>ttA		STARD3 N-terminal like							145	130	135					7																	38247300		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38247300C>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.195C>A	7.37:g.38247300C>A	ENSP00000009041:p.Phe65Leu					STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L	p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			2	452	+			65			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.195C>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	STARD3NL	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC		0.373	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			8	331	1	0	0.000442599	0.000442599	0.00556767	8	331					A	38247300	C	A	38247300	3	1	75	1	0	0	0	0	1	0	0	0	15310	883	31	3	197	3	STARD3NL	7	38247300	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6868699	38247300	120891363	199	9594											
AMPH	273	broad.mit.edu	37	chr7	38471789	38471789	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttattagtggcttacCgtccataggtcccagggcaa	11	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323																																						ENST00000356264.2																			1	Substitution - coding silent(1)	p.T386T(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.e13+1		amphiphysin							106	108	108					7																	38471789		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471789C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1G>A	7.37:g.38471789C>T						AMPH_ENST00000428293.2_Splice_Site_p.T386_splice|AMPH_ENST00000325590.5_Splice_Site_p.T386_splice	p.T386_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			13	1373	-			386					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.1158_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409493	0.42715	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	T	0.70168	0.3193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69250	-0.5194	4	.	.	.	-16.0735	14.2603	0.66080	0.0:0.9282:0.0:0.0718	.	.	.	.	N	137	.	.	D	-	1	0	AMPH	38438314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.749000	0.47492	1.336000	0.45506	0.655000	0.94253	GAC		0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Silent	52	408	0	0	0	0.000781405	0	52	408					T	38471789	C	T	38471789	5	4	75	1	0	0	0	0	0	0	1	0	588	666	23	1	965	1	AMPH	7	38471789	Splice_Site	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	224489	38471789	120666874	200	9595											
IKZF1	10320	broad.mit.edu	37	chr7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatgtggatattgtggcCgaagctataaacagcgaagc	11	7	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(622-624)Cga>Tga		IKAROS family zinc finger 1 (Ikaros)							55	55	55					7																	50455075		1865	4095	5960	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50455075C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.622C>T	7.37:g.50455075C>T	ENSP00000331614:p.Arg208*					IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*	p.R208*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			6	777	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	208					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.622C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	IKZF1	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA		0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		19	124	0	0	0	9.7654e-05	0	19	124					T	50455075	C	T	50455075	4	4	75	1	0	0	0	0	0	1	0	0	7644	644	23	1	640	1	IKZF1	7	50455075	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11983286	50455075	108683588	201	9596											
BAZ1B	9031	broad.mit.edu	37	chr7	72891240	72891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcccgttccttcttagcttGaatggcaagcaaccttctgc	7	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72891240G>T	ENST00000339594.4	-	7	2889	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2551-2553)Caa>Aaa		bromodomain adjacent to zinc finger domain, 1B							184	180	181					7																	72891240		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891240G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2551C>A	7.37:g.72891240G>T	ENSP00000342434:p.Gln851Lys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2889	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	851					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2551C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052651	0.55218	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59364	0.27;0.27	5.7	4.8	0.61643	.	0.050445	0.85682	D	0.000000	T	0.50616	0.1626	L	0.52759	1.655	0.46241	D	0.99894	B	0.22800	0.075	B	0.21151	0.033	T	0.44421	-0.9329	10	0.15952	T	0.53	-20.585	14.9793	0.71301	0.0:0.0:0.8563:0.1437	.	851	Q9UIG0	BAZ1B_HUMAN	K	851	ENSP00000342434:Q851K;ENSP00000385442:Q851K	ENSP00000342434:Q851K	Q	-	1	0	BAZ1B	72529176	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.262000	0.95591	1.379000	0.46325	0.491000	0.48974	CAA		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		16	1046	1	0	0.000422831	0.000422831	0.00556767	16	1046					T	72891240	G	T	72891240	3	4	75	1	0	0	0	0	1	0	0	0	1331	1299	45	3	1952	3	BAZ1B	7	72891240	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	22436165	72891240	86247423	202	9597											
PCLO	27445	broad.mit.edu	37	chr7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-													cactgctggtcgaatctgtaAgagacgctcctgagagaaca							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000333891.9	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						CGAATCTGTAAGAGACGCTCCT	0.436																																						ENST00000423517.2																			0				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						c.(6346-6348)tfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583922_82583923delAG	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.6346_6347delCT	7.37:g.82583924_82583925delAG	ENSP00000334319:p.Leu2116fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.L2116fs	p.L2116fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6683_6684	-			2047						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.6346_6347delCT	CCDS47630.1																																																																																				0.436	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	193						21	193	---	---	---	---	-	82583923	AG	-	82583922	7	5	75	1	0	1	0	1	0	0	0	0	11625	72	3	0	9182	0	PCLO	7	82583922	Frame_Shift_Del	DEL	AG	TCGA-HZ-A77Q-01A-11D-A36O-08	9692682	82583922	76554741	203	9598											
DYNC1I1	1780	broad.mit.edu	37	chr7	95614201	95614201	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttctcatcttttttgacCggacaatacgggtaattgaa	7	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:95614201C>A	ENST00000324972.6	+	8	899	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTTTTGACCGGACAATACG	0.398																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(706-708)Cgg>Agg		dynein, cytoplasmic 1, intermediate chain 1							105	111	109					7																	95614201		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614201C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.706C>A	7.37:g.95614201C>A						DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000537881.1_Silent_p.R199R	p.R236R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	899	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		236					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.706C>A	CCDS5644.1																																																																																				0.398	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		8	544	1	0	0.000442599	0.000442599	0.00556767	8	544					A	95614201	C	A	95614201	2	1	75	1	0	0	0	0	0	0	0	1	4858	643	23	3		3	DYNC1I1	7	95614201	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13030279	95614201	63524462	204	9599											
OCM2	4951	broad.mit.edu	37	chr7	97617777	97617777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcgttgtctatgaaccGgaaaacatccttcacctgac	8	12	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4																			0				lung(4)	4						c.(145-147)Cgg>Agg		oncomodulin 2							173	149	157					7																	97617777		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97617777G>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>A	7.37:g.97617777G>T						OCM2_ENST00000473987.2_5'UTR	p.R49R	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.145C>A	CCDS5653.1																																																																																				0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		9	494	1	0	3.86212e-05	0.000673444	0.000778902	9	494					T	97617777	G	T	97617777	2	4	75	1	0	0	0	0	0	0	0	1	10864	1115	39	3		3	OCM2	7	97617777	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2003576	97617777	61520886	205	9600											
DNAJB9	4189	broad.mit.edu	37	chr7	108212278	108212278	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttaggtgtgccaaaatcGgcatcagagcgccaaatcaa	9	10	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:108212278G>T	ENST00000249356.3	+	2	654	c.108G>T	c.(106-108)tcG>tcT	p.S36S	THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGCCAAAATCGGCATCAGAGC	0.413																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(106-108)tcG>tcT		DnaJ (Hsp40) homolog, subfamily B, member 9							104	113	110					7																	108212278		2203	4300	6503	SO:0001819	synonymous_variant	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212278G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.108G>T	7.37:g.108212278G>T						DNAJB9_ENST00000465725.1_3'UTR	p.S36S	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN			2	654	+			36			J.			Silent	SNP	ENST00000249356.3	37	c.108G>T	CCDS5752.1																																																																																				0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			8	632	1	0	0.000274275	0.000274275	0.0039602	8	632					T	108212278	G	T	108212278	2	4	75	1	0	0	0	0	0	0	0	1	4643	1103	39	3		3	DNAJB9	7	108212278	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10594501	108212278	50926385	206	9601											
ASB15	142685	broad.mit.edu	37	chr7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatttcccagagctatgacGatgagaggaagactgcgctg	12	9	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000275699.3_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1042-1044)Gat>Aat		ankyrin repeat and SOCS box containing 15							178	161	167					7																	123269090		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269090G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1042G>A	7.37:g.123269090G>A	ENSP00000397655:p.Asp348Asn					ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N	p.D348N			Q8WXK1	ASB15_HUMAN			12	1563	+			348					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1042G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	ASB15	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT		0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			72	525	0	0	0	0.000781405	0	72	525					A	123269090	G	A	123269090	3	1	75	1	0	0	0	0	1	0	0	0	1020	1058	37	1	1068	1	ASB15	7	123269090	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15056812	123269090	35869573	207	9602											
MKLN1	4289	broad.mit.edu	37	chr7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagaaaatgttagaaattCattctggatttatgacattg	9	3	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1639-1641)tCa>tAa		muskelin 1, intracellular mediator containing kelch motifs							104	109	107					7																	131148090		2203	4299	6502	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131148090C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1640C>A	7.37:g.131148090C>A	ENSP00000323527:p.Ser547*					MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	p.S547*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			13	1680	+	Melanoma(18;0.162)		547					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.1640C>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	41	9.090263	0.99062	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3791	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	455;547;37	.	ENSP00000323527:S547X	S	+	2	0	MKLN1	130798630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.818000	0.97014	0.591000	0.81541	TCA		0.348	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		11	587	1	0	6.40141e-05	6.40141e-05	0.00117365	11	587					A	131148090	C	A	131148090	4	1	75	1	0	0	0	0	0	1	0	0	9644	838	29	3	1723	3	MKLN1	7	131148090	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7879000	131148090	27990573	208	9603											
LRGUK	136332	broad.mit.edu	37	chr7	133827903	133827903	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaatttcaagccaccCaaaaacctcaaggtagactt	4	12	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAAGCCACCCAAAAACCTCA	0.343																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(574-576)ccC>ccA		leucine-rich repeats and guanylate kinase domain containing							135	126	129					7																	133827903		2203	4299	6502	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133827903C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.576C>A	7.37:g.133827903C>A							p.P192P	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	645	+			192					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.576C>A	CCDS5830.1																																																																																				0.343	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		8	559	1	0	5.4927e-09	0.000274275	2.00821e-07	8	559					A	133827903	C	A	133827903	2	1	75	1	0	0	0	0	0	0	0	1	8981	581	21	3		3	LRGUK	7	133827903	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2679813	133827903	25310760	209	9604											
TAS2R4	50832	broad.mit.edu	37	chr7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttctcctgctgaagcGgaatatctccccaaagatcc	8	12	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(367-369)cGg>cTg		taste receptor, type 2, member 4							171	159	163					7																	141478656		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478656G>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.368G>T	7.37:g.141478656G>T	ENSP00000247881:p.Arg123Leu					SSBP1_ENST00000465582.1_Intron	p.R123L	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	415	+	Melanoma(164;0.0171)		123					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.368G>T	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974173	0.34848	.	.	ENSG00000127364	ENST00000247881	T	0.00711	5.8	5.52	4.64	0.57946	.	0.625698	0.16289	N	0.220974	T	0.01800	0.0057	L	0.43554	1.36	0.09310	N	1	P	0.48640	0.913	P	0.56788	0.806	T	0.52533	-0.8563	10	0.41790	T	0.15	.	7.605	0.28097	0.0858:0.1661:0.7482:0.0	.	123	Q9NYW5	TA2R4_HUMAN	L	123	ENSP00000247881:R123L	ENSP00000247881:R123L	R	+	2	0	TAS2R4	141125125	0.003000	0.15002	0.033000	0.17914	0.290000	0.27261	0.174000	0.16743	1.575000	0.49775	0.632000	0.83419	CGG		0.478	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			9	674	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	674					T	141478656	G	T	141478656	3	4	75	1	0	0	0	0	1	0	0	0	15629	1116	39	3	370	3	TAS2R4	7	141478656	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7650753	141478656	17660007	210	9605											
OR9A4	130075	broad.mit.edu	37	chr7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttagaactaaatgttgatGaattactctagtgccactga	8	7	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(7-9)atG>atT		olfactory receptor, family 9, subfamily A, member 4							180	180	180					7																	141618684		2013	4190	6203	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618684G>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.9G>T	7.37:g.141618684G>T	ENSP00000448789:p.Met3Ile					MGAM_ENST00000497554.1_Intron	p.M3I	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	68	+	Melanoma(164;0.0171)		3					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.9G>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	OR9A4	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG		0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		9	590	1	0	0.000442599	0.000442599	0.00556767	9	590					T	141618684	G	T	141618684	3	4	75	1	0	0	0	0	1	0	0	0	11291	1290	45	3	11	3	OR9A4	7	141618684	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	140028	141618684	17519979	211	9606											
TRPV6	55503	broad.mit.edu	37	chr7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccactcgccagtgagtgtCgcccatcatggcaatgagga	13	12	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1738-1740)Gac>Tac		transient receptor potential cation channel, subfamily V, member 6							147	123	131					7																	142571251		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571251C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1738G>T	7.37:g.142571251C>A	ENSP00000352358:p.Asp580Tyr						p.D580Y	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			13	1983	-	Melanoma(164;0.059)		580					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1738G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	TRPV6	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		8	421	1	0	0.000157383	0.000157383	0.00254253	8	421					A	142571251	C	A	142571251	3	1	75	1	0	0	0	0	1	0	0	0	16653	884	31	3	451	3	TRPV6	7	142571251	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	952567	142571251	16567412	212	9607											
PIP	5304	broad.mit.edu	37	chr7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgtcgttgatgttattcGggaattaggcatctgccctg	12	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453																																						ENST00000291009.3																			1	Substitution - Missense(1)	p.R118L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(352-354)cGg>cTg		prolactin-induced protein							165	157	159					7																	142836647		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836647G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>T	7.37:g.142836647G>T	ENSP00000291009:p.Arg118Leu						p.R118L	NM_002652.2	NP_002643.1	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	393	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	118					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.353G>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG		0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		11	689	1	0	0.000151284	0.000151284	0.00252221	11	689					T	142836647	G	T	142836647	3	4	75	1	0	0	0	0	1	0	0	0	11977	1116	39	3	367	3	PIP	7	142836647	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	265396	142836647	16302016	213	9608											
EPHA1	2041	broad.mit.edu	37	chr7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcccatgatagttgcctctCgaaggaagttccaccactgg	11	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2014-2016)cGa>cTa		EPH receptor A1							209	210	210					7																	143092480		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143092480C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2015G>T	7.37:g.143092480C>A	ENSP00000275815:p.Arg672Leu		OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.R672L	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			12	2101	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	672			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2015G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	EPHA1	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA		0.567	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			10	1017	1	0	0.000442599	0.000442599	0.00556767	10	1017					A	143092480	C	A	143092480	3	1	75	1	0	0	0	0	1	0	0	0	5183	884	31	3	943	3	EPHA1	7	143092480	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	255833	143092480	16046183	214	9609											
CHPF2	54480	broad.mit.edu	37	chr7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcccgttgggctccCtgctcctttcacaccacact	9	17	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1081-1083)cCt>cTt		chondroitin polymerizing factor 2							73	72	72					7																	150934530		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934530C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1082C>T	7.37:g.150934530C>T	ENSP00000035307:p.Pro361Leu					CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L	p.P361L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	2595	+			361					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1082C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	CHPF2	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		36	313	0	0	0	0.000228196	0	36	313					T	150934530	C	T	150934530	3	4	75	1	0	0	0	0	1	0	0	0	3378	681	24	2	1096	2	CHPF2	7	150934530	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7842050	150934530	8204133	215	9610											
GALNTL5	168391	broad.mit.edu	37	chr7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtcacctacggaaatattCgcgagcgtgttgagttaagg	12	7	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	411					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R411C(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1231-1233)Cgc>Agc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							111	107	108					7																	151716785		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151716785C>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1231C>A	7.37:g.151716785C>A	ENSP00000376548:p.Arg411Ser					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	9	1485	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	411					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1231C>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.373640	0.00207	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.12774	2.65;2.65	4.91	3.75	0.43078	.	0.461817	0.20658	N	0.088078	T	0.01730	0.0055	N	0.00029	-2.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39800	-0.9596	10	0.02654	T	1	.	8.7063	0.34356	0.8032:0.1968:0.0:0.0	.	162;411	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	S	411	ENSP00000392582:R411S;ENSP00000376548:R411S	ENSP00000376548:R411S	R	+	1	0	GALNTL5	151347718	0.259000	0.24043	0.003000	0.11579	0.001000	0.01503	1.930000	0.40124	0.880000	0.35969	-0.275000	0.10095	CGC		0.423	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		11	467	1	0	0.000219431	0.000219431	0.00342116	11	467					A	151716785	C	A	151716785	3	1	75	1	0	0	0	0	1	0	0	0	6252	884	31	3	1261	3	GALNTL5	7	151716785	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	782255	151716785	7421878	216	9611											
SLC7A2	6542	broad.mit.edu	37	chr8	17396408	17396408	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggaacacctgccccaccGgtttgcgacagcaagtttct	9	13	1	0	rs372780420		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17396408G>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Silent_p.P25P|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000398090.3_Silent_p.P25P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCACCGGTTTGCGACA	0.418																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(73-75)ccG>ccT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						100	91	94					8																	17396408		1837	4087	5924	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396408G>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4419G>T	8.37:g.17396408G>T						SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.P25P	p.P25P			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	192	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.75G>T	CCDS34852.1																																																																																				0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		8	684	1	0	0.00010058	0.00010058	0.00173709	8	684					T	17396408	G	T	17396408	1	4	75	0	1	0	0	0	0	0	0	0	14747	1103	39	3		3	SLC7A2	8	17396408	Intron	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		17396408	128967614	217	9612											
MTUS1	57509	broad.mit.edu	37	chr8	17570754	17570754	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgtaaataaattttttctCgaaggacctaagatataaaa	6	5	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000262102.6	-	6	2816	c.2592G>T	c.(2590-2592)tcG>tcT	p.S864S	MTUS1_ENST00000544260.1_Silent_p.S9S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000381869.3_Silent_p.S810S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2428-2430)tcG>tcT		microtubule associated tumor suppressor 1							93	94	94					8																	17570754		1813	4068	5881	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17570754C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2592G>T	8.37:g.17570754C>A						MTUS1_ENST00000262102.6_Silent_p.S864S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000544260.1_Silent_p.S9S	p.S810S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	5	2903	-			864					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2430G>T	CCDS43717.1																																																																																				0.264	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		12	663	1	0	3.27435e-08	0.000219431	1.13729e-06	12	663					A	17570754	C	A	17570754	2	1	75	1	0	0	0	0	0	0	0	1	10006	871	31	3		3	MTUS1	8	17570754	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	174346	17570754	128793268	218	9613											
GSR	2936	broad.mit.edu	37	chr8	30539560	30539560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagtcgatgggcaagttttCggccagcagctattgcaact	11	9	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:30539560C>A	ENST00000221130.5	-	11	1262	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L	GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	391					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GGCAAGTTTTCGGCCAGCAGC	0.383																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1171-1173)cGa>cTa		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						98	105	103					8																	30539560		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539560C>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1172G>T	8.37:g.30539560C>A	ENSP00000221130:p.Arg391Leu					GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L	p.R391L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1262	-			391					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1172G>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501103	0.85176	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;D;T	0.81659	1.76;1.76;-0.5;-1.52;-0.84	5.56	4.69	0.59074	.	0.104320	0.64402	D	0.000006	D	0.92113	0.7500	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93624	0.6950	10	0.87932	D	0	-22.4432	12.3051	0.54898	0.0:0.9179:0.0:0.0821	.	391	P00390	GSHR_HUMAN	L	391;348;362;338;309	ENSP00000221130:R391L;ENSP00000390065:R348L;ENSP00000445516:R362L;ENSP00000444559:R338L;ENSP00000438845:R309L	ENSP00000221130:R391L	R	-	2	0	GSR	30659102	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.924000	0.75823	1.359000	0.45940	-0.151000	0.13558	CGA		0.383	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			10	582	1	0	5.50884e-06	0.00010058	0.000142319	10	582					A	30539560	C	A	30539560	3	1	75	1	0	0	0	0	1	0	0	0	6858	884	31	3	408	3	GSR	8	30539560	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12968806	30539560	115824462	219	9614											
C8orf41	80185	broad.mit.edu	37	chr8	33369577	33369577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaatcctgccacagaaccGcattcagtaacttgaagcag	9	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:33369577G>A	ENST00000431156.2	-	2	1173	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TTI2_ENST00000520636.1_Silent_p.C185C|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.C185C|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	185																	CCACAGAACCGCATTCAGTAA	0.483																																						ENST00000431156.2																			0											c.(553-555)tgC>tgT		TELO2 interacting protein 2							199	201	200					8																	33369577		2203	4300	6503	SO:0001819	synonymous_variant	80185						binding	g.chr8:33369577G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.555C>T	8.37:g.33369577G>A						TTI2_ENST00000360742.5_Silent_p.C185C|TTI2_ENST00000520636.1_Silent_p.C185C	p.C185C	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			2	1173	-			185					D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	c.555C>T	CCDS6090.1																																																																																				0.483	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		8	951	0	0	0	0.000274275	0	8	951					A	33369577	G	A	33369577	2	1	75	1	0	0	0	0	0	0	0	1	2434	1079	38	1		1	C8orf41	8	33369577	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2830017	33369577	112994445	220	9615											
THAP1	55145	broad.mit.edu	37	chr8	42693251	42693251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcatcgctgctgtgCggtcttgagcttctttctga	10	12	4	2	rs138918468		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:42693251C>T	ENST00000254250.3	-	3	726	c.496G>A	c.(496-498)Gca>Aca	p.A166T	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	166			A -> T (in DYT6). {ECO:0000269|PubMed:20083799}.		cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTGCTGTGCGGTCTTGAGC	0.443																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(496-498)Gca>Aca		THAP domain containing, apoptosis associated protein 1		C	THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	143	134	137		496,	5.5	0.9	8	dbSNP_134	137	0,8600		0,0,4300	no	missense,utr-3	THAP1	NM_018105.2,NM_199003.1	58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,	166/214,	42693251	1,13005	2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693251C>T	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"THAP (C2CH-type zinc finger) domain containing"	20856	protein-coding gene	gene with protein product		609520	"dystonia 6, torsion (autosomal dominant)"	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.496G>A	8.37:g.42693251C>T	ENSP00000254250:p.Ala166Thr					THAP1_ENST00000345117.2_3'UTR	p.A166T	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	726	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	166					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.496G>A	CCDS6136.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522348	0.44866	2.27E-4	0.0	ENSG00000131931	ENST00000254250	T	0.78126	-1.15	5.52	5.52	0.82312	.	0.172283	0.52532	D	0.000063	T	0.61702	0.2368	L	0.27053	0.805	0.80722	D	1	P	0.39181	0.663	B	0.20184	0.028	T	0.62937	-0.6748	10	0.13108	T	0.6	-24.4747	19.7971	0.96490	0.0:1.0:0.0:0.0	.	166	Q9NVV9	THAP1_HUMAN	T	166	ENSP00000254250:A166T	ENSP00000254250:A166T	A	-	1	0	THAP1	42812408	0.985000	0.35326	0.902000	0.35471	0.978000	0.69477	3.052000	0.49893	2.757000	0.94681	0.585000	0.79938	GCA		0.443	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		9	1026	0	0	0	0.000442599	0	9	1026					T	42693251	C	T	42693251	3	4	75	1	0	0	0	0	1	0	0	0	15893	768	27	1	149	1	THAP1	8	42693251	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9323674	42693251	103670771	221	9616											
VCPIP1	80124	broad.mit.edu	37	chr8	67577279	67577279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactaggatttcactccCaaattcacctggaaagtgct	7	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:67577279C>A	ENST00000310421.4	-	1	2173	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	639					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTCACTCCCAAATTCACCT	0.363																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1915-1917)Ggg>Tgg		valosin containing protein (p97)/p47 complex interacting protein 1							139	146	144					8																	67577279		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577279C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1915G>T	8.37:g.67577279C>A	ENSP00000309031:p.Gly639Trp						p.G639W	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2173	-		Lung NSC(129;0.142)|all_lung(136;0.227)	639					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1915G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188916	0.57909	.	.	ENSG00000175073	ENST00000310421	T	0.49720	0.77	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70676	-0.4806	10	0.87932	D	0	-9.9769	19.2059	0.93729	0.0:1.0:0.0:0.0	.	639	Q96JH7	VCIP1_HUMAN	W	639	ENSP00000309031:G639W	ENSP00000309031:G639W	G	-	1	0	VCPIP1	67739833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.587000	0.87381	0.655000	0.94253	GGG		0.363	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			10	724	1	0	2.17888e-05	0.000442599	0.00047966	10	724					A	67577279	C	A	67577279	3	1	75	1	0	0	0	0	1	0	0	0	17195	594	21	3	1765	3	VCPIP1	8	67577279	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	24884028	67577279	78786743	222	9617											
TCEB1	6921	broad.mit.edu	37	chr8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaaatacatgcatactttcGatagcacatgtgaaggtatc	7	7	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000522337.1	-	5	531	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(211-213)tCg>tAg		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							99	82	88					8																	74858992		2203	4300	6503	SO:0001587	stop_gained	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858992G>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.212C>A	8.37:g.74858992G>T	ENSP00000429906:p.Ser71*					TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Nonsense_Mutation_p.S71*	p.S71*	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	304	-	Breast(64;0.0311)		71					E5RGD9|Q567Q6	Nonsense_Mutation	SNP	ENST00000522337.1	37	c.212C>A	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088852	0.97271	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	.	.	.	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.4048	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	X	71;55;71;71;71;71;71;71	.	ENSP00000284811:S71X	S	-	2	0	TCEB1	75021546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.669000	0.90835	0.591000	0.81541	TCG		0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		7	269	1	0	0.000274275	0.000274275	0.0039602	7	269					T	74858992	G	T	74858992	4	4	75	1	0	0	0	0	0	1	0	0	15731	1059	37	3	130	3	TCEB1	8	74858992	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7281713	74858992	71505030	223	9618											
ZFHX4	79776	broad.mit.edu	37	chr8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagctaaaaacgctgctGcccctgcagcaagttctggc	10	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7132-7134)Gcc>Tcc		zinc finger homeobox 4							95	95	95					8																	77766289		1996	4157	6153	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766289G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7132G>T	8.37:g.77766289G>T	ENSP00000430497:p.Ala2378Ser	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	p.A2378S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7580	+			2333			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7132G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	ZFHX4	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		47	314	1	0	1.23103e-26	0.000680045	4.96541e-25	47	314					T	77766289	G	T	77766289	3	4	75	1	0	0	0	0	1	0	0	0	17688	1319	46	3	7166	3	ZFHX4	8	77766289	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2907297	77766289	68597733	224	9619											
CA1	759	broad.mit.edu	37	chr8	86250487	86250487	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcagctcacctgatcGgttatcgttgtcctcaaaat	7	11	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I	77					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(229-231)Cga>Aga		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						188	189	189					8																	86250487		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86250487G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.229C>A	8.37:g.86250487G>T						CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R	p.R77R			P00915	CAH1_HUMAN			4	1275	-		all_lung(136;4.89e-06)	77						Silent	SNP	ENST00000523953.1	37	c.229C>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975851	0.02215	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.14	3.31	0.37934	.	.	.	.	.	T	0.68522	0.3010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65549	-0.6141	4	.	.	.	-1.2951	13.4955	0.61424	0.0:0.0:0.7637:0.2363	.	.	.	.	Q	13	.	.	P	-	2	0	CA1	86437739	0.998000	0.40836	0.030000	0.17652	0.077000	0.17291	1.135000	0.31454	0.534000	0.28695	0.591000	0.81541	CCG		0.393	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		11	604	1	0	5.50884e-06	0.00010058	0.000142319	11	604					T	86250487	G	T	86250487	2	4	75	1	0	0	0	0	0	0	0	1	2517	1124	39	3		3	CA1	8	86250487	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8484198	86250487	60113535	225	9620											
OSGIN2	734	broad.mit.edu	37	chr8	90926876	90926876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatccagatgctgactttGggtatgattatccatccgtt	8	9	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:90926876G>T	ENST00000297438.2	+	4	653	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000451899.2_Missense_Mutation_p.G144W	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	100					meiotic nuclear division (GO:0007126)			p.G100W(1)|p.G144W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGACTTTGGGTATGATTA	0.448																																						ENST00000451899.2																			2	Substitution - Missense(2)	p.G100W(1)|p.G144W(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(430-432)Ggg>Tgg		oxidative stress induced growth inhibitor family member 2							213	196	202					8																	90926876		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90926876G>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.298G>T	8.37:g.90926876G>T	ENSP00000297438:p.Gly100Trp					OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000297438.2_Missense_Mutation_p.G100W	p.G144W	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	690	+			100						Missense_Mutation	SNP	ENST00000297438.2	37	c.430G>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946518	0.92593	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.10288	2.89;2.89;2.89	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35798	-0.9774	10	0.87932	D	0	-11.2268	19.9187	0.97077	0.0:0.0:1.0:0.0	.	144;100	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	W	100;144;144	ENSP00000297438:G100W;ENSP00000396445:G144W;ENSP00000431029:G144W	ENSP00000297438:G100W	G	+	1	0	OSGIN2	90996050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.591000	0.81541	GGG		0.448	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		10	587	1	0	2.17888e-05	0.000442599	0.00047966	10	587					T	90926876	G	T	90926876	3	4	75	1	0	0	0	0	1	0	0	0	11332	1348	47	3	444	3	OSGIN2	8	90926876	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4676389	90926876	55437146	226	9621											
SLC26A7	115111	broad.mit.edu	37	chr8	92364116	92364116	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctttactggctgcccatgGtacggtagtgctttttcact	10	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.e10+1		solute carrier family 26 (anion exchanger), member 7							190	172	178					8																	92364116		2203	4300	6503	SO:0001630	splice_region_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92364116G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1218+1G>C	8.37:g.92364116G>C						SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site		NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		10	1457	+									Splice_Site	SNP	ENST00000276609.3	37		CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.		0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		Intron	77	636	0	0	0	0.000781405	0	77	636					C	92364116	G	C	92364116	5	2	75	1	0	0	0	0	0	0	1	0	14572	1275	44	5	1253	5	SLC26A7	8	92364116	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1437240	92364116	53999906	227	9622											
VPS13B	157680	broad.mit.edu	37	chr8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttctttttagcaactGatttggtgctgagaaaggtt	9	4	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport (GO:0015031)					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)			TTTAGCAACTGATTTGGTGCT	0.274																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(586-588)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							57	60	59					8																	100123331		2193	4298	6491	SO:0001583	missense	157680				protein transport			g.chr8:100123331G>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.586G>T	8.37:g.100123331G>T	ENSP00000351346:p.Asp196Tyr					VPS13B_ENST00000358544.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y	p.D196Y			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		6	697	+	Breast(36;3.73e-07)		196					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.586G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	VPS13B	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	318	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	318					T	100123331	G	T	100123331	3	4	75	1	0	0	0	0	1	0	0	0	17244	1290	45	3	604	3	VPS13B	8	100123331	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7759215	100123331	46240691	228	9623											
RNF19A	25897	broad.mit.edu	37	chr8	101276930	101276930	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagctactactggagacacGattacagacaacgttacacc	8	12	0	2	rs202024866		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1273-1275)atC>atA		ring finger protein 19A, RBR E3 ubiquitin protein ligase							218	192	201					8																	101276930		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101276930G>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1275C>A	8.37:g.101276930G>T						RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	p.I425I	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		7	1591	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		425					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.1275C>A	CCDS6286.1																																																																																				0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		10	546	1	0	0.000673444	0.000673444	0.00785517	10	546					T	101276930	G	T	101276930	2	4	75	1	0	0	0	0	0	0	0	1	13520	1048	37	3		3	RNF19A	8	101276930	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1153599	101276930	45087092	229	9624											
OXR1	55074	broad.mit.edu	37	chr8	107704955	107704955	+	Splice_Site	DEL	G	G	-													tcctttaaaaaaaaaaaaaaGaatcctgatgtccatccaac							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000452423.2_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34	37	36					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	7	356						7	356	---	---	---	---	-	107704955	G	-	107704955	8	5	75	1	0	1	0	1	0	0	1	0	11376	956	33	0	750	0	OXR1	8	107704955	Splice_Site	DEL	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6428025	107704955	38659067	230	9625											
EBAG9	9166	broad.mit.edu	37	chr8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgaagaaggaacaaaaCaaaattggtgtgaaactttc	8	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K|EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(616-618)aaC>aaA		estrogen receptor binding site associated, antigen, 9							135	135	135					8																	110576764		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110576764C>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.618C>A	8.37:g.110576764C>A	ENSP00000337675:p.Asn206Lys					EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	p.N206K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		7	918	+			206					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.618C>A	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	EBAG9	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		42	323	1	0	1.06644e-07	0.000319135	3.66341e-06	42	323					A	110576764	C	A	110576764	3	1	75	1	0	0	0	0	1	0	0	0	4895	477	17	3	640	3	EBAG9	8	110576764	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2871809	110576764	35787258	231	9626											
TRPS1	7227	broad.mit.edu	37	chr8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T													tttactctttaggttttccaINStttttttccacttgtgcatt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:116426269_116426270insT	ENST00000220888.5	-	6	3986_3987	c.3827_3828insA	c.(3826-3828)aatfs	p.N1276fs	TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.N1280fs|TRPS1_ENST00000395715.3_Frame_Shift_Ins_p.N1289fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.N1030fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276	Transcriptional repressor domain. {ECO:0000250}.				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.N1289fs*>6(1)|p.N1276fs*>6(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)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome																													ENST00000395715.3																			2	Deletion - Frameshift(2)	p.N1289fs*>6(1)|p.N1276fs*>6(1)	lung(2)	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						c.(3865-3867)aggfs		trichorhinophalangeal syndrome I																																				SO:0001589	frameshift_variant	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.chr8:116426269_116426270insT	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.3828dupA	8.37:g.116426276_116426276dupT	ENSP00000220888:p.Asn1276fs					TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs	p.R1289fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	4443_4444	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1276					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Ins	INS	ENST00000220888.5	37	c.3866_3867insA																																																																																					0.381	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		81	632						81	632	---	---	---	---	T	116426270	-	T	116426269	7	5	75	1	0	1	1	0	0	0	0	0	16646	214	8	0	21	0	TRPS1	8	116426269	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	5849505	116426269	29937753	232	9627											
PHF20L1	51105	broad.mit.edu	37	chr8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacttttgagattggtgctCgtttggaggcactggactac	12	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(52-54)Cgt>Agt		PHD finger protein 20-like 1							120	124	123					8																	133790126		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133790126C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.52C>A	8.37:g.133790126C>A	ENSP00000378784:p.Arg18Ser					PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395383.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000315808.10_Missense_Mutation_p.R18S	p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	351	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		18			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.52C>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	PHF20L1	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		8	529	1	0	1.76689e-08	0.000442599	6.24103e-07	8	529					A	133790126	C	A	133790126	3	1	75	1	0	0	0	0	1	0	0	0	11874	884	31	3	54	3	PHF20L1	8	133790126	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	17363857	133790126	12573896	233	9628											
CBWD1	55871	broad.mit.edu	37	chr9	172100	172100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtctgctaatccagtGgtctctaacagtatgtaatc	9	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:172100G>T	ENST00000356521.4	-	4	499	c.411C>A	c.(409-411)acC>acA	p.T137T	CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000377447.3_Silent_p.T137T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000314367.10_Silent_p.T101T	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	137							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTAATCCAGTGGTCTCTAACA	0.338																																						ENST00000377447.3																			0				kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.(409-411)acC>acA		COBW domain containing 1							171	178	176					9																	172100		2203	4297	6500	SO:0001819	synonymous_variant	55871						ATP binding|protein binding	g.chr9:172100G>T	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.411C>A	9.37:g.172100G>T						CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000356521.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000382393.1_3'UTR	p.T137T			Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	4	466	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	137					A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	ENST00000356521.4	37	c.411C>A	CCDS6438.1																																																																																				0.338	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		14	2005	1	0	3.59834e-05	3.59834e-05	0.000765197	14	2005					T	172100	G	T	172100	2	4	75	1	0	0	0	0	0	0	0	1	2719	1335	47	3		3	CBWD1	9	172100	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		172100	141041331	234	9629											
KIAA1432	57589	broad.mit.edu	37	chr9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattccttcttgtcccagcGgatcatgctgcctttccaca	6	16	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517																																						ENST00000414202.2																			1	Substitution - Missense(1)	p.R688L(1)	lung(1)	breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2299-2301)cGg>cTg		KIAA1432							243	220	228					9																	5763327		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763327G>T																												ENST00000414202.2:c.2300G>T	9.37:g.5763327G>T	ENSP00000416696:p.Arg767Leu					KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L	p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2491	+		Acute lymphoblastic leukemia(23;0.154)	767						Missense_Mutation	SNP	ENST00000414202.2	37	c.2300G>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	KIAA1432	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG		0.517	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			9	835	1	0	0.000274275	0.000274275	0.0039602	9	835					T	5763327	G	T	5763327	3	4	75	1	0	0	0	0	1	0	0	0	8263	1116	39	3	2133	3	KIAA1432	9	5763327	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5591227	5763327	135450104	235	9630											
SNAPC3	6619	broad.mit.edu	37	chr9	15459726	15459726	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaactacagatgggtgacGaacaatgacagttttgcacc	9	8	0	3	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(1096-1098)acG>acT		small nuclear RNA activating complex, polypeptide 3, 50kDa							137	129	131					9																	15459726		2203	4300	6503	SO:0001819	synonymous_variant	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15459726G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1098G>T	9.37:g.15459726G>T							p.T366T	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	9	1274	+			366					D3DRI8|Q2VPI6|Q5T285	Silent	SNP	ENST00000380821.3	37	c.1098G>T	CCDS6478.1																																																																																				0.373	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		8	504	1	0	6.40141e-05	6.40141e-05	0.00117365	8	504					T	15459726	G	T	15459726	2	4	75	1	0	0	0	0	0	0	0	1	14886	1045	37	3		3	SNAPC3	9	15459726	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9696399	15459726	125753705	236	9631											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		7	410						7	410	---	---	---	---	T	21007046	-	T	21007045	7	5	75	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	5547319	21007045	120206386	237	9632											
ACO1	48	broad.mit.edu	37	chr9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggtgtgcccgctgtggttGactttgctgcaatgcgtgat	16	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000309951.6	+	4	424	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	96					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(286-288)Gac>Tac		aconitase 1, soluble							159	149	153					9																	32408531		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408531G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.286G>T	9.37:g.32408531G>T	ENSP00000309477:p.Asp96Tyr					ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.D96Y	p.D96Y	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	5	492	+			96					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.286G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699540	0.88830	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.49720	0.77;0.77	5.96	5.96	0.96718	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89212	0.3565	10	0.87932	D	0	-8.9451	19.1796	0.93617	0.0:0.0:1.0:0.0	.	96	P21399	ACOC_HUMAN	Y	132;96;96;96	ENSP00000309477:D96Y;ENSP00000369255:D96Y	ENSP00000309477:D96Y	D	+	1	0	ACO1	32398531	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	9.809000	0.99208	2.814000	0.96858	0.655000	0.94253	GAC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		10	512	1	0	0.00010058	0.00010058	0.00173709	10	512					T	32408531	G	T	32408531	3	4	75	1	0	0	0	0	1	0	0	0	146	1290	45	3	296	3	ACO1	9	32408531	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11401486	32408531	108804900	238	9633											
GRHPR	9380	broad.mit.edu	37	chr9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G													gagctagagcgaggtgtggcINSgggggcccacggcctgctct					rs369721488|rs150805048		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1	0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		9	274						9	274	---	---	---	---	G	37424908	-	G	37424907	7	5	75	1	0	1	1	0	0	0	0	0	6796	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	5016376	37424907	103788524	239	9634											
AGTPBP1	23287	broad.mit.edu	37	chr9	88200500	88200500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgggaatggccatgataatCacaataaaccttgaaaatat	7	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:88200500C>A	ENST00000357081.3	-	23	3187	c.3043G>T	c.(3043-3045)Gat>Tat	p.D1015Y	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1015					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCATGATAATCACAATAAACC	0.313																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3043-3045)Gat>Tat		ATP/GTP binding protein 1							103	92	96					9																	88200500		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88200500C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3043G>T	9.37:g.88200500C>A	ENSP00000349592:p.Asp1015Tyr					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000432218.1_Intron	p.D1015Y			Q9UPW5	CBPC1_HUMAN			23	3187	-			1015					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3043G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052361	0.75960	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.16743	2.32;2.32;2.32	5.42	4.51	0.55191	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	H	0.97103	3.94	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	T	0.71437	-0.4593	10	0.87932	D	0	-28.4007	14.5389	0.67980	0.0:0.9278:0.0:0.0722	.	1027;1015;975	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	Y	1015;975;1027	ENSP00000349592:D1015Y;ENSP00000365251:D975Y;ENSP00000365277:D1027Y	ENSP00000349592:D1015Y	D	-	1	0	AGTPBP1	87390320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.960000	0.70348	2.530000	0.85305	0.591000	0.81541	GAT		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		11	469	1	0	3.07112e-06	6.40141e-05	8.57171e-05	11	469					A	88200500	C	A	88200500	3	1	75	1	0	0	0	0	1	0	0	0	400	826	29	3	653	3	AGTPBP1	9	88200500	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	50775593	88200500	53012931	240	9635											
FAM120A	23196	broad.mit.edu	37	chr9	96261114	96261114	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatttaagagagcaattGgatattattcagcgactagt	9	5	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:96261114G>T	ENST00000277165.6	+	5	1170	c.976G>T	c.(976-978)Gga>Tga	p.G326*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	326						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGAGCAATTGGATATTATTC	0.353																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(976-978)Gga>Tga		family with sequence similarity 120A							167	171	170					9																	96261114		2203	4300	6503	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96261114G>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.976G>T	9.37:g.96261114G>T	ENSP00000277165:p.Gly326*					FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*	p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			5	1170	+			326					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.976G>T	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.475131|6.475131	0.97598|0.97598	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893|ENST00000446420	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.167044|.	0.40385|.	N|.	0.001105|.	.|T	.|0.74650	.|0.3744	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73424	.|-0.3987	.|3	0.31617|.	T|.	0.26|.	-7.6021|-7.6021	18.6403|18.6403	0.91393|0.91393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	326|168	.|.	ENSP00000277165:G326X|.	G|L	+|+	1|3	0|2	FAM120A|FAM120A	95300935|95300935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.183000|7.183000	0.77697|0.77697	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GGA|TTG		0.353	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		11	1145	1	0	0.000157383	0.000157383	0.00254253	11	1145					T	96261114	G	T	96261114	4	4	75	1	0	0	0	0	0	1	0	0	5436	1349	47	3	994	3	FAM120A	9	96261114	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8060614	96261114	44952317	241	9636											
IKBKAP	8518	broad.mit.edu	37	chr9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttaccacaggttttcGgaatggagctttcttctctc	8	11	3	0	rs374814563		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(946-948)cCg>cAg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							137	140	139					9																	111678495		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111678495G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.947C>A	9.37:g.111678495G>T	ENSP00000363779:p.Pro316Gln					IKBKAP_ENST00000537196.1_5'UTR	p.P316Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			10	1254	-			316					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.947C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	IKBKAP	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG		0.453	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			10	491	1	0	2.17888e-05	0.000442599	0.00047966	10	491					T	111678495	G	T	111678495	3	4	75	1	0	0	0	0	1	0	0	0	7640	1116	39	3	3163	3	IKBKAP	9	111678495	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15417381	111678495	29534936	242	9637											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761453	111761453	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcttccaactgccaagttGacagcttgtcctacacgctg	7	13	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111761453G>T	ENST00000325551.4	-	2	311	c.225C>A	c.(223-225)gtC>gtA	p.V75V	CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374595.4_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCCAAGTTGACAGCTTGTC	0.328																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(223-225)gtC>gtA		catenin (cadherin-associated protein), alpha-like 1							176	180	179					9																	111761453		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761453G>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.225C>A	9.37:g.111761453G>T						CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V|CTNNAL1_ENST00000325551.4_Silent_p.V75V	p.V75V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	304	-			75					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.225C>A	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		14	1194	1	0	7.48243e-07	0.000442599	2.35076e-05	14	1194					T	111761453	G	T	111761453	2	4	75	1	0	0	0	0	0	0	0	1	4026	1277	45	3		3	CTNNAL1	9	111761453	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	82958	111761453	29451978	243	9638											
LPAR1	1902	broad.mit.edu	37	chr9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatggtatcccgattcCgccggggtccagaactatgc	10	13	2	1	rs569190522		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(742-744)cGg>cTg		lysophosphatidic acid receptor 1							84	85	84					9																	113703751		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703751C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.743G>T	9.37:g.113703751C>A	ENSP00000363553:p.Arg248Leu					LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L	p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	1126	-			248					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.743G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	LPAR1	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		10	367	1	0	0.000442599	0.000442599	0.00556767	10	367					A	113703751	C	A	113703751	3	1	75	1	0	0	0	0	1	0	0	0	8942	652	23	3	359	3	LPAR1	9	113703751	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1942298	113703751	27509680	244	9639											
FAM125B	89853	broad.mit.edu	37	chr9	129154438	129154438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacattcggatcatgggccGgaccaagcaggccccgcctc	12	15	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:129154438G>A	ENST00000361171.3	+	5	584	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q|MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	168	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ATCATGGGCCGGACCAAGCAG	0.512																																						ENST00000361171.3																			0											c.(502-504)cGg>cAg		multivesicular body subunit 12B							107	113	111					9																	129154438		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129154438G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.503G>A	9.37:g.129154438G>A	ENSP00000354772:p.Arg168Gln					MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q	p.R168Q	NM_033446.2	NP_258257.1					5	584	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.503G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876815	0.97055	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.9	5.9	0.94986	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;P;D;P	0.87578	0.998;0.773;0.998;0.825	T	0.77194	-0.2677	10	0.66056	D	0.02	-3.0422	19.2671	0.93993	0.0:0.0:1.0:0.0	.	161;153;37;168	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	Q	168;168;153;153;161	ENSP00000354772:R168Q;ENSP00000441988:R168Q;ENSP00000384751:R153Q;ENSP00000401379:R153Q;ENSP00000442846:R161Q	ENSP00000354772:R168Q	R	+	2	0	FAM125B	128194259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.859000	0.75467	2.788000	0.95919	0.650000	0.86243	CGG		0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		6	576	0	0	0	8.12818e-05	0	6	576					A	129154438	G	A	129154438	3	1	75	1	0	0	0	0	1	0	0	0	5449	1116	39	1	521	1	FAM125B	9	129154438	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15450687	129154438	12058993	245	9640											
GARNL3	84253	broad.mit.edu	37	chr9	130027240	130027240	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttccagctctgtctcGgaagacctaggctgtagacg	11	10	2	2	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(82-84)tcG>tcT		GTPase activating Rap/RanGAP domain-like 3							252	239	243					9																	130027240		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027240G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.84G>T	9.37:g.130027240G>T						GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			1	436	+			28					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.84G>T	CCDS6869.2																																																																																				0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		10	775	1	0	1.08611e-07	6.40141e-05	3.69041e-06	10	775					T	130027240	G	T	130027240	2	4	75	1	0	0	0	0	0	0	0	1	6269	1103	39	3		3	GARNL3	9	130027240	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	872802	130027240	11186191	246	9641											
GPR107	57720	broad.mit.edu	37	chr9	132854660	132854660	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatatccttcgaaaacgacGgtaaactatttctcccttca	4	12	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863G>T	c.(862-864)cGg>cTg	p.R288L	GPR107_ENST00000347136.6_Splice_Site_p.R288L|GPR107_ENST00000372410.3_Splice_Site_p.R288L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.e9+1		G protein-coupled receptor 107							125	123	124					9																	132854660		2203	4300	6503	SO:0001630	splice_region_variant	0					integral to membrane		g.chr9:132854660G>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.863+1G>T	9.37:g.132854660G>T						GPR107_ENST00000347136.6_Splice_Site_p.R288_splice|GPR107_ENST00000372410.3_Splice_Site_p.R288_splice	p.R288_splice	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			9	1370	+		Ovarian(14;0.000531)	288					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37	c.863_splice	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842525	0.71488	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.26810	1.71;1.74;1.74	5.56	5.56	0.83823	.	0.081892	0.48286	D	0.000183	T	0.26304	0.0642	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.19200	0.01;0.034;0.004	B;B;B	0.26416	0.011;0.069;0.01	T	0.07271	-1.0781	10	0.11794	T	0.64	-11.1396	18.183	0.89785	0.0:0.0:1.0:0.0	.	288;288;288	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	288	ENSP00000361483:R288L;ENSP00000336988:R288L;ENSP00000361487:R288L	ENSP00000336988:R288L	R	+	2	0	GPR107	131894481	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	6.612000	0.74187	2.638000	0.89438	0.603000	0.83216	CGG		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		Missense_Mutation	8	606	1	0	5.50884e-06	0.00010058	0.000142319	8	606					T	132854660	G	T	132854660	5	4	75	1	0	0	0	0	0	0	1	0	6652	1130	39	3	897	3	GPR107	9	132854660	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2827420	132854660	8358771	247	9642											
BARHL1	56751	broad.mit.edu	37	chr9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaaaagccacgcaaggCgcgcacggccttcaccgacc	10	17	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(541-543)gCg>gTg		BarH-like homeobox 1							24	20	21					9																	135462791		2198	4299	6497	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135462791C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"Homeoboxes / ANTP class : NKL subclass"	953	protein-coding gene	gene with protein product		605211	"BarH (Drosophila)-like 1"				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.542C>T	9.37:g.135462791C>T	ENSP00000263610:p.Ala181Val					BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	2	1155	+			181					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.542C>T	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831568	0.91036	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.96265	-3.96;-3.96	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	N	0.25094	0.71	0.80722	D	1	P	0.39060	0.657	B	0.41723	0.365	D	0.94391	0.7614	10	0.87932	D	0	.	15.5939	0.76562	0.0:1.0:0.0:0.0	.	181	Q9BZE3	BARH1_HUMAN	V	181	ENSP00000263610:A181V;ENSP00000444704:A181V	ENSP00000263610:A181V	A	+	2	0	BARHL1	134452612	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.811000	0.86092	2.269000	0.75478	0.555000	0.69702	GCG		0.677	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			5	39	0	0	0	0.000602214	0	5	39					T	135462791	C	T	135462791	3	4	75	1	0	0	0	0	1	0	0	0	1314	768	27	1	548	1	BARHL1	9	135462791	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2608131	135462791	5750640	248	9643											
GDI2	2665	broad.mit.edu	37	chr10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgccttcaaaagttcttGgatctttttcatcgaagttg	7	8	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(463-465)cCa>cAa		GDP dissociation inhibitor 2							125	122	123					10																	5827938		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827938G>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.464C>A	10.37:g.5827938G>T	ENSP00000369538:p.Pro155Gln					GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	p.P155Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			5	754	-			155					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.464C>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	GDI2	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA		0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		7	456	1	0	0.000157383	0.000157383	0.00254253	7	456					T	5827938	G	T	5827938	3	4	75	1	0	0	0	0	1	0	0	0	6350	1348	47	3	901	3	GDI2	10	5827938	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		5827938	129706809	249	9644											
FRMD4A	55691	broad.mit.edu	37	chr10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattcttctccgaacaatgGgtggttcctcccctggatcc	8	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1306-1308)cCc>cAc		FERM domain containing 4A							169	158	162					10																	13712473		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712473G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1307C>A	10.37:g.13712473G>T	ENSP00000350032:p.Pro436His					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	p.P436H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			17	1675	-			436					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1307C>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	FRMD4A	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC		0.502	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		7	353	1	0	5.18039e-06	0.000157383	0.000141431	7	353					T	13712473	G	T	13712473	3	4	75	1	0	0	0	0	1	0	0	0	6078	1232	43	3	1844	3	FRMD4A	10	13712473	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7884535	13712473	121822274	250	9645											
PDSS1	23590	broad.mit.edu	37	chr10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggaaagggaaagcctttcGaccaattattgtggcgctaa	12	7	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(409-411)cGa>cTa		prenyl (decaprenyl) diphosphate synthase, subunit 1							146	146	146					10																	26998640		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998640G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.410G>T	10.37:g.26998640G>T	ENSP00000365388:p.Arg137Leu					PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			5	463	+			137					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.410G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249578	0.95305	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D;D	0.89123	-2.47;-2.47	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.99764	4.76	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.78314	0.991;0.957	D	0.99305	1.0902	10	0.87932	D	0	-16.9866	18.8227	0.92103	0.0:0.0:1.0:0.0	.	137;137	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	L	137;137;98	ENSP00000365388:R137L;ENSP00000365376:R137L	ENSP00000365376:R137L	R	+	2	0	PDSS1	27038646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	CGA		0.383	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			11	667	1	0	0.000151284	0.000151284	0.00252221	11	667					T	26998640	G	T	26998640	3	4	75	1	0	0	0	0	1	0	0	0	11735	1058	37	3	428	3	PDSS1	10	26998640	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	13286167	26998640	108536107	251	9646											
SVIL	6840	broad.mit.edu	37	chr10	29788191	29788191	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgactttctgtgaccCgctgttcataaatgtacaga	7	11	3	2	rs372472784		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000355867.4	-	18	4270	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000375400.3_Splice_Site_p.R747L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000538146.1_5'Flank|SVIL_ENST00000375398.2_Splice_Site_p.R1173L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.e20-1		supervillin							79	68	72					10																	29788191		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29788191C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3517-1G>T	10.37:g.29788191C>A						SVIL_ENST00000375400.3_Splice_Site_p.R747_splice|SVIL_ENST00000535393.1_Splice_Site_p.R87_splice|SVIL_ENST00000355867.4_Splice_Site_p.R1173_splice	p.R1173_splice			O95425	SVIL_HUMAN			20	3967	-		Breast(68;0.103)	1173					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.3516_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156495	0.38119	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14266	2.63;2.66;2.66;2.52	4.13	2.28	0.28536	.	0.324362	0.34853	N	0.003624	T	0.17195	0.0413	M	0.68952	2.095	0.80722	D	1	B;P;B	0.41159	0.403;0.74;0.38	B;B;B	0.41374	0.119;0.355;0.274	T	0.02042	-1.1224	10	0.59425	D	0.04	-10.9371	10.3423	0.43887	0.0:0.8378:0.0:0.1622	.	87;747;1173	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	747;1173;1173;87;127	ENSP00000364549:R747L;ENSP00000364547:R1173L;ENSP00000348128:R1173L;ENSP00000445472:R87L	ENSP00000348128:R1173L	R	-	2	0	SVIL	29828197	0.999000	0.42202	0.998000	0.56505	0.608000	0.37181	2.104000	0.41815	0.417000	0.25871	-1.100000	0.02121	CGG		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Missense_Mutation	8	453	1	0	2.17888e-05	0.000442599	0.00047966	8	453					A	29788191	C	A	29788191	5	1	75	1	0	0	0	0	0	0	1	0	15473	666	23	3	3210	3	SVIL	10	29788191	Splice_Site	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2789551	29788191	105746556	252	9647											
CCDC7	79741	broad.mit.edu	37	chr10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctcattcaatgactaatcGatttaatgccatgttgaaag	7	7	2	2	rs368821033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000537047.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249																																						ENST00000362006.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(820-822)cGa>cTa		coiled-coil domain containing 7							71	80	77					10																	32780874		2203	4295	6498	SO:0001583	missense	221016							g.chr10:32780874G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.821G>T	10.37:g.32780874G>T	ENSP00000355078:p.Arg274Leu					CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L	p.R274L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			10	1364	+		Breast(68;0.000207)|Prostate(175;0.0107)	274					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.821G>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633269	0.47049	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	T;T	0.38887	1.11;1.11	4.13	-2.58	0.06228	.	.	.	.	.	T	0.34832	0.0911	L	0.34521	1.04	0.09310	N	1	P	0.46064	0.872	P	0.46685	0.524	T	0.35943	-0.9768	9	0.66056	D	0.02	-5.7463	9.3861	0.38345	0.7177:0.0:0.2823:0.0	.	274	Q96M83	CCDC7_HUMAN	L	274	ENSP00000277657:R274L;ENSP00000355078:R274L	ENSP00000277657:R274L	R	+	2	0	CCDC7	32820880	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.418000	0.07080	-0.510000	0.06523	0.561000	0.74099	CGA		0.249	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		19	1161	1	0	0.00074312	0.00074312	0.00863566	19	1161					T	32780874	G	T	32780874	3	4	75	1	0	0	0	0	1	0	0	0	2849	1058	37	3	855	3	CCDC7	10	32780874	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2992683	32780874	102753873	253	9648											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		10	214						10	214	---	---	---	---	-	46969403	CAG	-	46969401	7	5	75	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-HZ-A77Q-01A-11D-A36O-08	14188527	46969401	88565346	254	9649											
ANK3	288	broad.mit.edu	37	chr10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgattgatttcatccactGaaaaattcagttcccttgcc	5	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4115	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12343-12345)tCa>tAa		ankyrin 3, node of Ranvier (ankyrin G)							72	76	75					10																	61824022		2203	4298	6501	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61824022G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12344C>A	10.37:g.61824022G>T	ENSP00000280772:p.Ser4115*					ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	p.S4115*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			39	12535	-			4115			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.12344C>A	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.037921|6.037921	0.97226|0.97226	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.34245	.|N	.|0.004129	T|.	0.53334|.	0.1790|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42816|.	-0.9429|.	4|.	.|0.07813	.|T	.|0.8	.|.	19.1741|19.1741	0.93597|0.93597	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	9;62|4115;1496;94;636;636;1503;1482;737	.|.	.|ENSP00000280772:S4115X	Q|S	-|-	1|2	0|0	ANK3|ANK3	61494028|61494028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	398	1	0	0.000442599	0.000442599	0.00556767	9	398					T	61824022	G	T	61824022	4	4	75	1	0	0	0	0	0	1	0	0	622	1294	45	3	1122	3	ANK3	10	61824022	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	14854621	61824022	73710725	255	9650											
TET1	80312	broad.mit.edu	37	chr10	70450608	70450608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtaaaaagtgaaacCgaaccccattttatcttaaa	5	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5446-5448)acC>acA		tet methylcytosine dioxygenase 1							84	87	86					10																	70450608		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450608C>A	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.5448C>A	10.37:g.70450608C>A							p.T1816T	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	5657	+			1816					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5448C>A	CCDS7281.1																																																																																				0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	455	1	0	0.000673444	0.000673444	0.00785517	8	455					A	70450608	C	A	70450608	2	1	75	1	0	0	0	0	0	0	0	1	15821	639	23	3		3	TET1	10	70450608	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8626586	70450608	65084139	256	9651											
ANXA11	311	broad.mit.edu	37	chr10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcataggtggccacgTtatccagcccgatggggggc	15	14	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652																																						ENST00000438331.1																			1	Substitution - Missense(1)	p.N41I(1)	ovary(1)	endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(121-123)aAc>aGc		annexin A11							73	65	67					10																	81930605		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930605T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>G	10.37:g.81930605T>C	ENSP00000398610:p.Asn41Ser					ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S	p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	604	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		41					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.122A>G	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		17	247	0	0	0	0.000132079	0	17	247					C	81930605	T	C	81930605	3	2	75	1	0	0	0	0	1	0	0	0	716	1725	60	4	1447	4	ANXA11	10	81930605	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	11479997	81930605	53604142	257	9652											
IFIT1	3434	broad.mit.edu	37	chr10	91162663	91162663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctaaggcaggctgtcCgcttaaatccagacaatgga	9	12	0	1	rs562615704	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:91162663C>A	ENST00000371804.3	+	2	798	c.631C>A	c.(631-633)Cgc>Agc	p.R211S	IFIT1_ENST00000546318.1_Missense_Mutation_p.R180S|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	211					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGGCTGTCCGCTTAAATCC	0.458																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(538-540)Cgc>Agc		interferon-induced protein with tetratricopeptide repeats 1							230	235	233					10																	91162663		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162663C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.631C>A	10.37:g.91162663C>A	ENSP00000360869:p.Arg211Ser					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R211S	p.R180S	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1825	+			211					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.538C>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685494	0.29872	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73363	-0.74;-0.74	5.39	2.98	0.34508	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.660597	0.15292	N	0.270123	T	0.65176	0.2666	L	0.43757	1.38	0.23366	N	0.997826	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.50432	-0.8829	10	0.27082	T	0.32	.	11.599	0.50990	0.7141:0.2859:0.0:0.0	.	211;211	Q5T7J1;P09914	.;IFIT1_HUMAN	S	211;180	ENSP00000360869:R211S;ENSP00000441968:R180S	ENSP00000360869:R211S	R	+	1	0	IFIT1	91152643	0.023000	0.18921	0.085000	0.20634	0.025000	0.11179	1.287000	0.33284	0.391000	0.25143	-0.375000	0.07067	CGC		0.458	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		11	1340	1	0	0.000274275	0.000274275	0.0039602	11	1340					A	91162663	C	A	91162663	3	1	75	1	0	0	0	0	1	0	0	0	7551	652	23	3	637	3	IFIT1	10	91162663	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9232058	91162663	44372084	258	9653											
MYOF	26509	broad.mit.edu	37	chr10	95115479	95115479	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctcatccccatcttcGgtagtgtctgccccctgaag	7	16	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:95115479G>T	ENST00000359263.4	-	31	3308	c.3309C>A	c.(3307-3309)acC>acA	p.T1103T	MYOF_ENST00000371502.4_Silent_p.T1103T|MYOF_ENST00000358334.5_Silent_p.T1090T|MYOF_ENST00000371501.4_Silent_p.T1103T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1103					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.T1103T(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						CCCCATCTTCGGTAGTGTCTG	0.458																																						ENST00000371501.4																			1	Substitution - coding silent(1)	p.T1103T(1)	lung(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						c.(3307-3309)acC>acA		myoferlin							199	191	193					10																	95115479		1882	4108	5990	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95115479G>T	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.3309C>A	10.37:g.95115479G>T						MYOF_ENST00000371502.4_Silent_p.T1103T|MYOF_ENST00000358334.5_Silent_p.T1090T|MYOF_ENST00000359263.4_Silent_p.T1103T	p.T1103T			Q9NZM1	MYOF_HUMAN			31	3431	-			1103					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.3309C>A	CCDS41551.1																																																																																				0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		9	867	1	0	0.000673444	0.000673444	0.00785517	9	867					T	95115479	G	T	95115479	2	4	75	1	0	0	0	0	0	0	0	1	10130	1103	39	3		3	MYOF	10	95115479	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3952816	95115479	40419268	259	9654											
DNTT	1791	broad.mit.edu	37	chr10	98092312	98092312	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atttagttctgtgcccctacGagcgtcgtgcctttgccctg	10	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:98092312G>T	ENST00000371174.2	+	9	1420	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E440*			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	440	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTGCCCCTACGAGCGTCGTGC	0.542																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1318-1320)Gag>Tag		DNA nucleotidylexotransferase							210	178	189					10																	98092312		2203	4300	6503	SO:0001587	stop_gained	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98092312G>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1318G>T	10.37:g.98092312G>T	ENSP00000360216:p.Glu440*					DNTT_ENST00000371174.2_Nonsense_Mutation_p.E440*	p.E440*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	9	1488	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	440			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	c.1318G>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016755	0.93404	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.81	4.9	0.64082	.	0.293454	0.37577	N	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.7521	14.7956	0.69876	0.0:0.1449:0.8551:0.0	.	.	.	.	X	440	.	ENSP00000360216:E440X	E	+	1	0	DNTT	98082302	1.000000	0.71417	0.062000	0.19696	0.261000	0.26267	7.045000	0.76585	1.452000	0.47756	0.655000	0.94253	GAG		0.542	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		8	576	1	0	0.000673444	0.000673444	0.00785517	8	576					T	98092312	G	T	98092312	4	4	75	1	0	0	0	0	0	1	0	0	4696	1059	37	3	1352	3	DNTT	10	98092312	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2976833	98092312	37442435	260	9655											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		8	493						8	493	---	---	---	---	-	102789811	G	-	102789811	7	5	75	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4697499	102789811	32744936	261	9656											
BTRC	8945	broad.mit.edu	37	chr10	103292106	103292106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttacagagaattcactgcCgaagtgaaacaagcaaagga	10	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000408038.2_Silent_p.R263R|BTRC_ENST00000393441.4_Silent_p.R258R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(895-897)Cga>Aga		beta-transducin repeat containing E3 ubiquitin protein ligase							147	149	148					10																	103292106		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292106C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.895C>A	10.37:g.103292106C>A						BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	p.R299R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1013	+		Colorectal(252;0.234)	299					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.895C>A	CCDS7512.1																																																																																				0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		16	584	1	0	0.000566183	0.000566183	0.00706542	16	584					A	103292106	C	A	103292106	2	1	75	1	0	0	0	0	0	0	0	1	1573	644	23	3		3	BTRC	10	103292106	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	502295	103292106	32242641	262	9657											
OBFC1	79991	broad.mit.edu	37	chr10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttataactccagtgctgtCatccactgcaagagaaaagc	8	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(235-237)Gac>Tac		oligonucleotide/oligosaccharide-binding fold containing 1							133	141	138					10																	105664909		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105664909C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.235G>T	10.37:g.105664909C>A	ENSP00000224950:p.Asp79Tyr					OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	4	402	-		Colorectal(252;0.178)	79					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.235G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282127	0.59867	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.78816	-1.21;-1.21	5.43	4.5	0.54988	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.042369	0.85682	D	0.000000	D	0.87884	0.6290	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89490	0.3756	10	0.87932	D	0	-20.8298	14.0399	0.64669	0.0:0.8475:0.1525:0.0	.	79	Q9H668	STN1_HUMAN	Y	79	ENSP00000224950:D79Y;ENSP00000358779:D79Y	ENSP00000224950:D79Y	D	-	1	0	OBFC1	105654899	1.000000	0.71417	0.384000	0.26145	0.844000	0.47949	5.692000	0.68256	1.365000	0.46057	0.561000	0.74099	GAC		0.398	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		10	568	1	0	0.000442599	0.000442599	0.00556767	10	568					A	105664909	C	A	105664909	3	1	75	1	0	0	0	0	1	0	0	0	10849	826	29	3	899	3	OBFC1	10	105664909	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2372803	105664909	29869838	263	9658											
ACADSB	36	broad.mit.edu	37	chr10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcaaccatggatgaaaattCgaaaatggagaaatcagtaa	8	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313																																						ENST00000358776.4																			1	Substitution - Missense(1)	p.S87L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(259-261)tCg>tAg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						87	99	95					10																	124797320		2203	4296	6499	SO:0001587	stop_gained	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124797320C>A	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.260C>A	10.37:g.124797320C>A	ENSP00000357873:p.Ser87*					ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	p.S87*	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	3	274	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	87					B4DQ51|Q5SQN6|Q96CX7	Nonsense_Mutation	SNP	ENST00000358776.4	37	c.260C>A	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	ACADSB	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG		0.313	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		10	682	1	0	0.000219431	0.000219431	0.00342116	10	682					A	124797320	C	A	124797320	4	1	75	1	0	0	0	0	0	1	0	0	115	893	31	3	270	3	ACADSB	10	124797320	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	19132411	124797320	10737427	264	9659											
ZRANB1	54764	broad.mit.edu	37	chr10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgcttgatagagacgttCaaaaaggtaagcatggaatt	12	4	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1222-1224)Caa>Aaa		zinc finger, RAN-binding domain containing 1							122	125	124					10																	126662279		2203	4299	6502	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662279C>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1222C>A	10.37:g.126662279C>A	ENSP00000352676:p.Gln408Lys						p.Q408K	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1593	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	408			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1222C>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995286	0.74703	.	.	ENSG00000019995	ENST00000359653	T	0.20200	2.09	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	M	0.69823	2.125	0.80722	D	1	P	0.43169	0.8	B	0.35899	0.213	T	0.15752	-1.0426	10	0.49607	T	0.09	-25.352	18.3777	0.90440	0.0:1.0:0.0:0.0	.	408	Q9UGI0	ZRAN1_HUMAN	K	408	ENSP00000352676:Q408K	ENSP00000352676:Q408K	Q	+	1	0	ZRANB1	126652269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.562000	0.86427	0.650000	0.86243	CAA		0.328	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		11	816	1	0	6.40141e-05	6.40141e-05	0.00117365	11	816					A	126662279	C	A	126662279	3	1	75	1	0	0	0	0	1	0	0	0	18275	827	29	3	1236	3	ZRANB1	10	126662279	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1864959	126662279	8872468	265	9660											
ZNF511	118472	broad.mit.edu	37	chr10	135126314	135126314	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccctctaccatctgctttGgtcagggtgccgctcgagga	11	13	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:135126314G>T	ENST00000359035.3	+	0	1652				ZNF511_ENST00000361518.5_Missense_Mutation_p.G235C|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473																																						ENST00000361518.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(703-705)Ggt>Tgt		zinc finger protein 511							181	191	188					10																	135126314		2203	4300	6503	SO:0001624	3_prime_UTR_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135126314G>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.*860G>T	10.37:g.135126314G>T						ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000359035.3_3'UTR|ZNF511_ENST00000368554.4_Intron	p.G235C	NM_145806.2	NP_665805.2	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	6	1172	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	0					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.703G>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.947330	0.73672	.	.	ENSG00000198546	ENST00000361518	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	T	0.79088	0.4387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82080	-0.0634	7	0.87932	D	0	.	15.0696	0.72024	0.0:0.0:1.0:0.0	.	235	Q8NB15-2	.	C	235	.	ENSP00000355251:G235C	G	+	1	0	ZNF511	134976304	1.000000	0.71417	0.923000	0.36655	0.675000	0.39556	7.514000	0.81750	2.408000	0.81797	0.655000	0.94253	GGT		0.473	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		10	968	1	0	6.40141e-05	6.40141e-05	0.00117365	10	968					T	135126314	G	T	135126314	1	4	75	0	1	0	0	0	0	0	0	0	18008	1348	47	3		3	ZNF511	10	135126314	3'UTR	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8464035	135126314	408433	266	9661											
OR51A4	401666	broad.mit.edu	37	chr11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaatactatccctatttGggcaactctgacagttgtca	9	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(433-435)Caa>Aaa		olfactory receptor, family 51, subfamily A, member 4							216	220	218					11																	4967898		2191	4269	6460	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967898G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.433C>A	11.37:g.4967898G>T	ENSP00000369731:p.Gln145Lys					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Q145K	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	458	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	145						Missense_Mutation	SNP	ENST00000380373.2	37	c.433C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418366	0.04766	.	.	ENSG00000205497	ENST00000380373	T	0.71341	-0.56	3.58	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39384	0.1076	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	0.02654	T	1	.	11.0806	0.48057	0.0:0.0:0.4766:0.5234	.	145	Q8NGJ6	O51A4_HUMAN	K	145	ENSP00000369731:Q145K	ENSP00000369731:Q145K	Q	-	1	0	OR51A4	4924474	0.000000	0.05858	0.013000	0.15412	0.779000	0.44077	-0.888000	0.04148	0.227000	0.20999	0.580000	0.79431	CAA		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		16	2011	1	0	2.27111e-07	0.00010058	7.55265e-06	16	2011					T	4967898	G	T	4967898	3	4	75	1	0	0	0	0	1	0	0	0	11129	1357	47	3	510	3	OR51A4	11	4967898	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		4967898	130038618	267	9662											
OR52E8	390079	broad.mit.edu	37	chr11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggtgttgagagctttgagtCgagcttcccaggagggcagg	17	7	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(715-717)cGa>cTa		olfactory receptor, family 52, subfamily E, member 8							81	91	87					11																	5878217		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878217C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.716G>T	11.37:g.5878217C>A	ENSP00000444054:p.Arg239Leu					TRIM5_ENST00000380027.1_Intron	p.R239L	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	239					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.716G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389468	0.42410	.	.	ENSG00000183269	ENST00000537935	T	0.00330	8.08	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.129746	0.34700	N	0.003757	T	0.00936	0.0031	M	0.93375	3.41	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.24333	-1.0163	10	0.87932	D	0	.	7.2403	0.26092	0.1727:0.7351:0.0:0.0922	.	239	Q6IFG1	O52E8_HUMAN	L	239	ENSP00000444054:R239L	ENSP00000444054:R239L	R	-	2	0	OR52E8	5834793	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	0.588000	0.23924	1.169000	0.42739	0.549000	0.68633	CGA		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		10	565	1	0	3.07112e-06	6.40141e-05	8.57171e-05	10	565					A	5878217	C	A	5878217	3	1	75	1	0	0	0	0	1	0	0	0	11160	884	31	3	239	3	OR52E8	11	5878217	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	910319	5878217	129128299	268	9663											
SYT9	143425	broad.mit.edu	37	chr11	7335003	7335003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagtgtttttatttcCggttccctacaatgaccttg	8	8	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:7335003C>A	ENST00000318881.6	+	3	1112	c.875C>A	c.(874-876)cCg>cAg	p.P292Q	SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTTATTTCCGGTTCCCTAC	0.433																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(874-876)cCg>cAg		synaptotagmin IX							204	206	205					11																	7335003		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335003C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.875C>A	11.37:g.7335003C>A	ENSP00000324419:p.Pro292Gln					SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	p.P292Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1112	+			292			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.875C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958114	0.73902	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.68903	-0.36;-0.36	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.188620	0.37955	N	0.001878	T	0.54631	0.1870	N	0.04387	-0.21	0.58432	D	0.999995	P	0.34743	0.466	P	0.44772	0.46	T	0.54330	-0.8310	9	.	.	.	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	292	Q86SS6	SYT9_HUMAN	Q	260;292	ENSP00000379944:P260Q;ENSP00000324419:P292Q	.	P	+	2	0	SYT9	7291579	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	4.967000	0.63722	2.836000	0.97738	0.655000	0.94253	CCG		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		9	1028	1	0	0.000442599	0.000442599	0.00556767	9	1028					A	7335003	C	A	7335003	3	1	75	1	0	0	0	0	1	0	0	0	15533	652	23	3	885	3	SYT9	11	7335003	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1456786	7335003	127671513	269	9664											
EIF4G2	1982	broad.mit.edu	37	chr11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgggtggcatgaacGgtccctccagaaagaagtca	11	11	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1063-1065)cCg>cAg		eukaryotic translation initiation factor 4 gamma, 2							139	136	137					11																	10823915		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823915G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1064C>A	11.37:g.10823915G>T	ENSP00000433664:p.Pro355Gln					EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q	p.P355Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1574	-			355						Missense_Mutation	SNP	ENST00000526148.1	37	c.1064C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.25;1.94	5.77	5.77	0.91146	.	0.096982	0.64402	D	0.000001	T	0.22627	0.0546	L	0.36672	1.1	0.35089	D	0.764105	P;P;P	0.43578	0.662;0.532;0.811	B;B;B	0.40134	0.32;0.171;0.119	T	0.02668	-1.1126	9	0.51188	T	0.08	-4.9893	20.3626	0.98863	0.0:0.0:1.0:0.0	.	355;355;428	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	355;355;355;355;428;355	ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q	ENSP00000340281:P355Q	P	-	2	0	EIF4G2	10780491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.313000	0.72844	2.885000	0.99019	0.655000	0.94253	CCG		0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		9	767	1	0	6.40141e-05	6.40141e-05	0.00117365	9	767					T	10823915	G	T	10823915	3	4	75	1	0	0	0	0	1	0	0	0	5055	1116	39	3	1703	3	EIF4G2	11	10823915	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3488912	10823915	124182601	270	9665											
TRAF6	7189	broad.mit.edu	37	chr11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagaaacctgtctccttGgacaatccttcagaatgtga	7	11	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(547-549)cCa>cAa		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							85	85	85					11																	36518716		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36518716G>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.548C>A	11.37:g.36518716G>T	ENSP00000433623:p.Pro183Gln					TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			4	794	-	all_lung(20;0.211)	all_hematologic(20;0.107)	183			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.548C>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231445	0.39399	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.32023	1.47;1.47	5.49	4.58	0.56647	Zinc finger, TRAF-type (1);	0.202993	0.47093	D	0.000247	T	0.25494	0.0620	L	0.58428	1.81	0.45806	D	0.99868	P	0.40266	0.71	B	0.31442	0.13	T	0.06075	-1.0847	10	0.13470	T	0.59	-14.1184	14.391	0.66978	0.0711:0.0:0.9289:0.0	.	183	Q9Y4K3	TRAF6_HUMAN	Q	183	ENSP00000433623:P183Q;ENSP00000337853:P183Q	ENSP00000337853:P183Q	P	-	2	0	TRAF6	36475292	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.971000	0.40530	1.325000	0.45301	0.650000	0.86243	CCA		0.383	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		8	395	1	0	0.000442599	0.000442599	0.00556767	8	395					T	36518716	G	T	36518716	3	4	75	1	0	0	0	0	1	0	0	0	16498	1348	47	3	1036	3	TRAF6	11	36518716	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25694801	36518716	98487800	271	9666											
FOLH1	2346	broad.mit.edu	37	chr11	49208253	49208253	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaattttcccagagcaattGattttcatgtcccgttccaa	5	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000256999.2	-	5	842	c.582C>A	c.(580-582)atC>atA	p.I194I	FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194				I -> V (in Ref. 9; AAZ66619). {ECO:0000305}.	folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGAGCAATTGATTTTCATGT	0.363																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(535-537)atC>atA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						75	81	79					11																	49208253		2201	4298	6499	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208253G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.582C>A	11.37:g.49208253G>T						FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000256999.2_Silent_p.I194I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I	p.I179I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			6	905	-			194					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.537C>A	CCDS7946.1																																																																																				0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		10	602	1	0	5.50884e-06	0.00010058	0.000142319	10	602					T	49208253	G	T	49208253	2	4	75	1	0	0	0	0	0	0	0	1	6004	1280	45	3		3	FOLH1	11	49208253	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12689537	49208253	85798263	272	9667											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	6	8	1	1	rs543165988		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Tga		olfactory receptor, family 5, subfamily T, member 3							172	171	171					11																	56020051		2201	4295	6496	SO:0001587	stop_gained	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>T	11.37:g.56020051G>T	ENSP00000305403:p.Gly126*						p.G126*	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Nonsense_Mutation	SNP	ENST00000303059.3	37	c.376G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720470	0.15372	.	.	ENSG00000172489	ENST00000303059	.	.	.	4.55	2.59	0.31030	.	0.542212	0.15279	U	0.270784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	.	.	.	X	126	.	ENSP00000305403:G126X	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		8	793	1	0	0.000442599	0.000442599	0.00556767	8	793					T	56020051	G	T	56020051	4	4	75	1	0	0	0	0	0	1	0	0	11225	1117	39	3	378	3	OR5T3	11	56020051	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6811798	56020051	78986465	273	9668											
OR5T1	390155	broad.mit.edu	37	chr11	56043180	56043180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaattttactgaagtcacCatgtttatattaataagctt	4	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CTGAAGTCACCATGTTTATAT	0.299																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(64-66)acC>acA		olfactory receptor, family 5, subfamily T, member 1							93	103	100					11																	56043180		2201	4294	6495	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043180C>A	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.66C>A	11.37:g.56043180C>A							p.T22T	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	152	+	Esophageal squamous(21;0.00448)		22					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.66C>A	CCDS31525.1																																																																																				0.299	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		11	705	1	0	3.86212e-05	0.000673444	0.000778902	11	705					A	56043180	C	A	56043180	2	1	75	1	0	0	0	0	0	0	0	1	11223	581	21	3		3	OR5T1	11	56043180	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	23129	56043180	78963336	274	9669											
OR8H1	219469	broad.mit.edu	37	chr11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagttgagtaactgaggtCaataaatgacaagtgagtaa	11	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(208-210)Gac>Tac		olfactory receptor, family 8, subfamily H, member 1							274	262	266					11																	56058331		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058331C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.208G>T	11.37:g.56058331C>A	ENSP00000323595:p.Asp70Tyr						p.D70Y	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	235	-	Esophageal squamous(21;0.00448)		70					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.208G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	OR8H1	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC		0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		12	1069	1	0	0.000673444	0.000673444	0.00785517	12	1069					A	56058331	C	A	56058331	3	1	75	1	0	0	0	0	1	0	0	0	11279	826	29	3	729	3	OR8H1	11	56058331	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15151	56058331	78948185	275	9670											
DDB1	1642	broad.mit.edu	37	chr11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccagttgggattaaagtctCgagcaatcttaaaacagaca	8	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.R258L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2839-2841)cGa>cTa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							120	112	115					11																	61070620		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070620C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2840G>T	11.37:g.61070620C>A	ENSP00000301764:p.Arg947Leu					DDB1_ENST00000450997.2_Missense_Mutation_p.R258L|DDB1_ENST00000538470.1_5'UTR	p.R947L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			23	3237	-			947			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2840G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121102	0.94385	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.50548	0.74;0.74;0.74	5.18	5.18	0.71444	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.88310	2.945	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.69142	0.962;0.931	T	0.78886	-0.2027	10	0.56958	D	0.05	-6.7829	18.6942	0.91594	0.0:1.0:0.0:0.0	.	258;947	B4DG00;Q16531	.;DDB1_HUMAN	L	947;258;113	ENSP00000301764:R947L;ENSP00000388705:R258L;ENSP00000439787:R113L	ENSP00000301764:R947L	R	-	2	0	DDB1	60827196	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	CGA		0.413	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		8	545	1	0	0.000442599	0.000442599	0.00556767	8	545					A	61070620	C	A	61070620	3	1	75	1	0	0	0	0	1	0	0	0	4334	884	31	3	602	3	DDB1	11	61070620	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5012289	61070620	73935896	276	9671											
AHNAK	79026	broad.mit.edu	37	chr11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atactcatttctggcatcttGaatttgggaccttttagttt	7	7	3	1	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4315-4317)ttC>ttA		AHNAK nucleoprotein							204	213	210					11																	62297572		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297572G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4317C>A	11.37:g.62297572G>T	ENSP00000367263:p.Phe1439Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F1439L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4591	-		Melanoma(852;0.155)	1439					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4317C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	9.761	1.170168	0.21621	.	.	ENSG00000124942	ENST00000378024	T	0.11821	2.74	4.32	-2.06	0.07298	.	.	.	.	.	T	0.24890	0.0604	M	0.76170	2.325	0.33910	D	0.639632	D	0.61697	0.99	P	0.59424	0.857	T	0.45469	-0.9259	9	0.10377	T	0.69	.	11.3291	0.49467	0.4092:0.0:0.5908:0.0	.	1439	Q09666	AHNK_HUMAN	L	1439	ENSP00000367263:F1439L	ENSP00000367263:F1439L	F	-	3	2	AHNAK	62054148	0.032000	0.19561	0.851000	0.33527	0.106000	0.19336	-0.846000	0.04336	-0.357000	0.08175	-0.387000	0.06579	TTC		0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	1018	1	0	0.000151284	0.000151284	0.00252221	14	1018					T	62297572	G	T	62297572	3	4	75	1	0	0	0	0	1	0	0	0	414	1281	45	3	13475	3	AHNAK	11	62297572	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1226952	62297572	72708944	277	9672											
SUV420H1	51111	broad.mit.edu	37	chr11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cactgtcagttgcaaacattCgcaaataaataaatacctaa	4	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000304363.4	-	6	913	c.560G>T	c.(559-561)cGa>cTa	p.R187L	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(559-561)cGa>cTa		suppressor of variegation 4-20 homolog 1 (Drosophila)							79	74	76					11																	67941364		2199	4292	6491	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941364C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.560G>T	11.37:g.67941364C>A	ENSP00000305899:p.Arg187Leu					SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L	p.R187L	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	913	-			187					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.560G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030461	0.93575	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271;ENST00000453170	D;D;D;D;D;D;T	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;0.96	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	N	0.25789	0.76	0.80722	D	1	P;P;D;D	0.76494	0.938;0.67;0.996;0.999	B;P;D;D	0.85130	0.371;0.495;0.992;0.997	D	0.90878	0.4751	10	0.62326	D	0.03	-10.1498	19.0028	0.92841	0.0:1.0:0.0:0.0	.	164;187;187;187	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	L	187;187;187;187;164;15;116	ENSP00000305899:R187L;ENSP00000385965:R187L;ENSP00000385640:R187L;ENSP00000385005:R187L;ENSP00000384724:R164L;ENSP00000433589:R15L;ENSP00000406377:R116L	ENSP00000305899:R187L	R	-	2	0	SUV420H1	67697940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.669000	0.90835	0.591000	0.81541	CGA		0.318	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		10	674	1	0	1.58986e-06	0.000673444	4.62318e-05	10	674					A	67941364	C	A	67941364	3	1	75	1	0	0	0	0	1	0	0	0	15466	884	31	3	2129	3	SUV420H1	11	67941364	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5643792	67941364	67065152	278	9673											
PRCP	5547	broad.mit.edu	37	chr11	82549486	82549486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccatacatagtagtgatcCaggagggccttggtctcaca	10	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:82549486C>A	ENST00000313010.3	-	8	1411	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.W427L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	406					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTAGTGATCCAGGAGGGCCT	0.413																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1216-1218)tGg>tTg		prolylcarboxypeptidase (angiotensinase C)							139	125	130					11																	82549486		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549486C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1217G>T	11.37:g.82549486C>A	ENSP00000317362:p.Trp406Leu					PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000525772.1_5'UTR	p.W406L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			8	1411	-			406					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1217G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933134	0.73442	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	D;D;D	0.91180	-2.8;-2.8;-2.8	6.06	6.06	0.98353	.	0.056069	0.85682	D	0.000000	D	0.93288	0.7861	M	0.81614	2.55	0.80722	D	1	P;B	0.49090	0.919;0.356	P;P	0.47827	0.558;0.477	D	0.92488	0.5998	9	.	.	.	-9.9724	20.6208	0.99490	0.0:1.0:0.0:0.0	.	406;427	P42785;A8MU24	PCP_HUMAN;.	L	406;427;301	ENSP00000317362:W406L;ENSP00000377055:W427L;ENSP00000442077:W301L	.	W	-	2	0	PRCP	82227134	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	TGG		0.413	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		9	445	1	0	3.09899e-07	0.000274275	9.98704e-06	9	445					A	82549486	C	A	82549486	3	1	75	1	0	0	0	0	1	0	0	0	12496	595	21	3	281	3	PRCP	11	82549486	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14608122	82549486	52457030	279	9674											
NAALAD2	10003	broad.mit.edu	37	chr11	89914807	89914807	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactccttattttctgctgtGaaaaacttctcagaggctgc	8	10	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1876-1878)gtG>gtT		N-acetylated alpha-linked acidic dipeptidase 2							33	37	36					11																	89914807		2196	4290	6486	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89914807G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1878G>T	11.37:g.89914807G>T						NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V	p.V626V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			17	2108	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	626					B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1878G>T	CCDS8288.1																																																																																				0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		10	589	1	0	0.00010058	0.00010058	0.00173709	10	589					T	89914807	G	T	89914807	2	4	75	1	0	0	0	0	0	0	0	1	10169	1277	45	3		3	NAALAD2	11	89914807	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7365321	89914807	45091709	280	9675											
HTR3A	3359	broad.mit.edu	37	chr11	113856786	113856786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagaaaaggtgaaatcCgacaggagtgtcttcatgaa	11	7	2	3	rs375398394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGTGAAATCCGACAGGAGTG	0.502																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(592-594)tcC>tcA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						190	199	196					11																	113856786		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856786C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.594C>A	11.37:g.113856786C>A						HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Silent_p.S204S	p.S198S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1039	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	198					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.594C>A																																																																																					0.502	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		10	894	1	0	0.000442599	0.000442599	0.00556767	10	894					A	113856786	C	A	113856786	2	1	75	1	0	0	0	0	0	0	0	1	7474	639	23	3		3	HTR3A	11	113856786	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	23941979	113856786	21149730	281	9676											
MPZL2	10205	broad.mit.edu	37	chr11	118130817	118130817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcggcccatcgctttttcCggtaatgctggaagaggacc	11	11	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118130817C>A	ENST00000278937.2	-	4	664	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCGCTTTTTCCGGTAATGCTG	0.483																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(535-537)cGg>cTg		myelin protein zero-like 2							222	223	222					11																	118130817		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118130817C>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.536G>T	11.37:g.118130817C>A	ENSP00000278937:p.Arg179Leu					MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	p.R179L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	664	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.536G>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468572	0.63625	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97404	-4.37;-4.37	5.81	4.9	0.64082	.	0.283692	0.38720	N	0.001590	D	0.92561	0.7637	L	0.27053	0.805	0.40702	D	0.982498	P	0.38745	0.645	B	0.33042	0.157	D	0.91619	0.5309	10	0.22109	T	0.4	-19.4703	14.541	0.67995	0.0:0.9304:0.0:0.0696	.	179	O60487	MPZL2_HUMAN	L	179	ENSP00000278937:R179L;ENSP00000408362:R179L	ENSP00000278937:R179L	R	-	2	0	MPZL2	117636027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.801000	0.38843	1.454000	0.47793	0.655000	0.94253	CGG		0.483	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		9	1246	1	0	0.000673444	0.000673444	0.00785517	9	1246					A	118130817	C	A	118130817	3	1	75	1	0	0	0	0	1	0	0	0	9791	652	23	3	119	3	MPZL2	11	118130817	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4274031	118130817	16875699	282	9677											
RPS25	6230	broad.mit.edu	37	chr11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcgtccttcttcttcttgtCgtccttaggcggctgtagga	11	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	RPS25_ENST00000528547.1_5'UTR|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542																																						ENST00000527673.1																			0				endometrium(1)	1						c.(16-18)Gac>Tac		ribosomal protein S25							112	114	113					11																	118888751		2200	4295	6495	SO:0001583	missense	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888751C>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"S ribosomal proteins"	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.16G>T	11.37:g.118888751C>A	ENSP00000435096:p.Asp6Tyr					RPS25_ENST00000528547.1_5'UTR	p.D6Y	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	421	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	6					B2R4M7|P25111	Missense_Mutation	SNP	ENST00000527673.1	37	c.16G>T	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467841	0.43839	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.5	5.5	0.81552	.	0.100672	0.64402	D	0.000002	T	0.73171	0.3553	M	0.85462	2.755	0.80722	D	1	B	0.31730	0.337	B	0.31495	0.131	T	0.75977	-0.3127	9	0.66056	D	0.02	-9.1481	19.3992	0.94621	0.0:1.0:0.0:0.0	.	6	P62851	RS25_HUMAN	Y	6	.	ENSP00000435096:D6Y	D	-	1	0	RPS25	118393961	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.484000	0.60271	2.593000	0.87608	0.655000	0.94253	GAC		0.542	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		8	457	1	0	1.76689e-08	0.000442599	6.24103e-07	8	457					A	118888751	C	A	118888751	3	1	75	1	0	0	0	0	1	0	0	0	13686	884	31	3	373	3	RPS25	11	118888751	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	757934	118888751	16117765	283	9678											
POU2F3	25833	broad.mit.edu	37	chr11	120117199	120117199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagccgattccacggatgctCgcagcactctcagccaggtg	11	14	1	0	rs150644971		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:120117199C>A	ENST00000543440.2	+	2	220	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	POU2F3_ENST00000260264.4_Missense_Mutation_p.R26S	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	24					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R24C(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CACGGATGCTCGCAGCACTCT	0.488																																						ENST00000260264.4																			1	Substitution - Missense(1)	p.R24C(1)	skin(1)	large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(76-78)Cgc>Agc		POU class 2 homeobox 3							113	107	109					11																	120117199		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120117199C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.70C>A	11.37:g.120117199C>A	ENSP00000441687:p.Arg24Ser					POU2F3_ENST00000543440.2_Missense_Mutation_p.R24S	p.R26S	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	2	110	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	24					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.76C>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174274	0.38413	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.83673	-1.73;-1.75	5.22	5.22	0.72569	.	.	.	.	.	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	0.999999	B	0.26602	0.154	B	0.26202	0.067	T	0.66484	-0.5912	9	0.42905	T	0.14	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	24	Q9UKI9	PO2F3_HUMAN	S	26;24	ENSP00000441687:R26S;ENSP00000260264:R24S	ENSP00000260264:R24S	R	+	1	0	POU2F3	119622409	0.033000	0.19621	0.009000	0.14445	0.556000	0.35491	3.271000	0.51608	2.443000	0.82685	0.563000	0.77884	CGC		0.488	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			7	428	1	0	0.000274275	0.000274275	0.0039602	7	428					A	120117199	C	A	120117199	3	1	75	1	0	0	0	0	1	0	0	0	12315	884	31	3	76	3	POU2F3	11	120117199	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1228448	120117199	14889317	284	9679											
GUCY2C	2984	broad.mit.edu	37	chr12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-													gtacgcatcaccgatggtttCcacctgtggaaacagtttct							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCGATGGTTTCCACCTGTGGA	0.433																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2605-2607)aafs		guanylate cyclase 2C (heat stable enterotoxin receptor)							168	153	158					12																	14774147		2203	4300	6503	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14774147delC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2605delG	12.37:g.14774147delC	ENSP00000261170:p.Glu869fs						p.E869fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			23	2741	-			869			Guanylate cyclase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2605delG	CCDS8664.1																																																																																				0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			31	390						31	390	---	---	---	---	-	14774147	C	-	14774147	7	5	75	1	0	1	0	1	0	0	0	0	6926	864	30	0	636	0	GUCY2C	12	14774147	Frame_Shift_Del	DEL	C	TCGA-HZ-A77Q-01A-11D-A36O-08		14774147	119077748	285	9680											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		22	292	0	0	0	0.000375601	0	22	292					G	25398285	C	G	25398285	3	3	75	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10624138	25398285	108453610	286	9681											
CAPRIN2	65981	broad.mit.edu	37	chr12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgcatggaaggtgtcCaagactttggagtttgcttc	12	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000395805.2	-	8	2091	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000538387.1_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1543-1545)tGg>tTg		caprin family member 2							188	177	181					12																	30881820		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881820C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1544G>T	12.37:g.30881820C>A	ENSP00000379150:p.Trp515Leu					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L	p.W515L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2294	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		515						Missense_Mutation	SNP	ENST00000395805.2	37	c.1544G>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017222	0.75161	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.77620	2.24;-0.87;2.69;-0.79;-1.11;2.66;2.3	4.65	4.65	0.58169	.	0.276934	0.38217	N	0.001766	T	0.79924	0.4530	N	0.19112	0.55	0.42313	D	0.992223	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.994;0.996;0.994	T	0.80817	-0.1213	10	0.39692	T	0.17	-4.407	16.085	0.81038	0.0:1.0:0.0:0.0	.	515;241;515;515;515;515;515	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	261;515;515;515;182;515;241;434	ENSP00000415407:W261L;ENSP00000298892:W515L;ENSP00000379150:W515L;ENSP00000251071:W515L;ENSP00000309785:W182L;ENSP00000391479:W515L;ENSP00000438010:W434L	ENSP00000251071:W515L	W	-	2	0	CAPRIN2	30773087	1.000000	0.71417	0.977000	0.42913	0.902000	0.53008	4.524000	0.60552	2.299000	0.77371	0.561000	0.74099	TGG		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		8	544	1	0	0.000442599	0.000442599	0.00556767	8	544					A	30881820	C	A	30881820	3	1	75	1	0	0	0	0	1	0	0	0	2643	595	21	3	1883	3	CAPRIN2	12	30881820	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5483535	30881820	102970075	287	9682											
ADAMTS20	80070	broad.mit.edu	37	chr12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagattcaggtttggtacttGaattacagaagccatcactc	9	8	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3184-3186)tCa>tAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							167	145	152					12																	43825211		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825211G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3185C>A	12.37:g.43825211G>T	ENSP00000374071:p.Ser1062*					ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	p.S1062*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3184	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1062			TSP type-1 5.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.3185C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	ADAMTS20	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	493	1	0	0.000442599	0.000442599	0.00556767	9	493					T	43825211	G	T	43825211	4	4	75	1	0	0	0	0	0	1	0	0	266	1294	45	3	2618	3	ADAMTS20	12	43825211	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12943391	43825211	90026684	288	9683											
SLC38A1	81539	broad.mit.edu	37	chr12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcttctactttcacgatCagaaataaacttgctgtaaa	4	9	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000398637.5	-	4	830	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(136-138)Gat>Tat		solute carrier family 38, member 1							106	102	103					12																	46623409		1819	4078	5897	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46623409C>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.136G>T	12.37:g.46623409C>A	ENSP00000381634:p.Asp46Tyr					SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y	p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		4	830	-	Lung SC(27;0.137)|Renal(347;0.236)		46					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.136G>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612168	0.66672	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.10382	3.06;3.06;3.06;3.06;2.88	5.32	4.38	0.52667	.	0.458361	0.22316	N	0.061669	T	0.09862	0.0242	N	0.08118	0	0.47153	D	0.999331	B;P;D	0.58970	0.099;0.552;0.984	B;B;P	0.49829	0.019;0.135;0.623	T	0.32268	-0.9913	10	0.45353	T	0.12	-21.6098	15.9161	0.79521	0.1352:0.8648:0.0:0.0	.	46;46;46	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	Y	46	ENSP00000449607:D46Y;ENSP00000398142:D46Y;ENSP00000381634:D46Y;ENSP00000447853:D46Y;ENSP00000449756:D46Y	ENSP00000381634:D46Y	D	-	1	0	SLC38A1	44909676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.279000	0.43435	2.661000	0.90470	0.650000	0.86243	GAT		0.284	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			15	987	1	0	0.000308642	0.000308642	0.00435582	15	987					A	46623409	C	A	46623409	3	1	75	1	0	0	0	0	1	0	0	0	14651	826	29	3	1383	3	SLC38A1	12	46623409	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2798198	46623409	87228486	289	9684											
COL2A1	1280	broad.mit.edu	37	chr12	48390401	48390401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccagccatctgggcaGcaaagttctgcaaagaaacc	8	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:48390401G>A	ENST00000380518.3	-	8	703	c.539C>T	c.(538-540)gCt>gTt	p.A180V	COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	180					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A180V(1)|p.A111V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCTGGGCAGCAAAGTTCTG	0.468																																						ENST00000380518.3																			2	Substitution - Missense(2)	p.A180V(1)|p.A111V(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(538-540)gCt>gTt		collagen, type II, alpha 1	Collagenase(DB00048)						196	196	196					12																	48390401		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48390401G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.539C>T	12.37:g.48390401G>A	ENSP00000369889:p.Ala180Val					COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	p.A180V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			8	703	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	180					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.539C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240783	0.58995	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90004	-2.6;-2.58	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	N	0.16368	0.405	0.58432	D	0.999997	B;B	0.34264	0.392;0.446	B;B	0.40165	0.215;0.321	D	0.84424	0.0573	10	0.66056	D	0.02	.	13.4616	0.61231	0.0:0.1584:0.8416:0.0	.	111;180	P02458-1;P02458	.;CO2A1_HUMAN	V	180;111;111	ENSP00000369889:A180V;ENSP00000338213:A111V	ENSP00000338213:A111V	A	-	2	0	COL2A1	46676668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.533000	0.81994	2.644000	0.89710	0.563000	0.77884	GCT		0.468	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		7	1030	0	0	0	8.12818e-05	0	7	1030					A	48390401	G	A	48390401	3	1	75	1	0	0	0	0	1	0	0	0	3696	971	34	2	4112	2	COL2A1	12	48390401	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1766992	48390401	85461494	290	9685											
DDX23	9416	broad.mit.edu	37	chr12	49237775	49237775	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatccttgtctcgatctcGgtccttcttattccgatccc	5	17	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:49237775G>T	ENST00000308025.3	-	3	347	c.268C>A	c.(268-270)Cga>Aga	p.R90R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	90	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R90R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCGATCTCGGTCCTTCTTA	0.488																																						ENST00000308025.3																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(268-270)Cga>Aga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							417	355	376					12																	49237775		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237775G>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.268C>A	12.37:g.49237775G>T						DDX23_ENST00000553182.1_5'UTR	p.R90R	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	347	-			90			Arg-rich.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.268C>A	CCDS8770.1																																																																																				0.488	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		14	1015	1	0	0.000308642	0.000308642	0.00435582	14	1015					T	49237775	G	T	49237775	2	4	75	1	0	0	0	0	0	0	0	1	4361	1124	39	3		3	DDX23	12	49237775	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	847374	49237775	84614120	291	9686											
SLC16A7	9194	broad.mit.edu	37	chr12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccaaatatattcgacctcGaattcagtacttcttcagtt	4	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423																																						ENST00000261187.4																			2	Substitution - Missense(2)	p.R312Q(1)|p.R312L(1)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(934-936)cGa>cTa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						144	144	144					12																	60169011		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169011G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.935G>T	12.37:g.60169011G>T	ENSP00000261187:p.Arg312Leu					SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L	p.R312L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1099	+			312					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.935G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710851	0.68730	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.87071	0.6086	L	0.52364	1.645	0.43283	D	0.995255	D	0.65815	0.995	D	0.70935	0.971	D	0.85382	0.1120	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	L	312;312;312;312;312;213	ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L	.	R	+	2	0	SLC16A7	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		10	675	1	0	0.000673444	0.000673444	0.00785517	10	675					T	60169011	G	T	60169011	3	4	75	1	0	0	0	0	1	0	0	0	14463	1058	37	3	945	3	SLC16A7	12	60169011	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10931236	60169011	73682884	292	9687											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038670	72038670	+	Frame_Shift_Del	DEL	T	T	-													tgatcacctgtagtgctaacTtttttggccgaatgtgtttt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:72038670delT	ENST00000378743.3	-	4	1624	c.1266delA	c.(1264-1266)aaafs	p.K422fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	422					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAGTGCTAACTTTTTTGGCCG	0.333																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1264-1266)aafs		zinc finger, C3H1-type containing							194	175	181					12																	72038670		1823	4090	5913	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72038670delT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1266delA	12.37:g.72038670delT	ENSP00000368017:p.Lys422fs						p.K422fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			4	1624	-			422					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.1266delA	CCDS41813.1																																																																																				0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	766						7	766	---	---	---	---	-	72038670	T	-	72038670	7	5	75	1	0	1	0	1	0	0	0	0	17686	1606	56	0	4831	0	ZFC3H1	12	72038670	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	11869659	72038670	61813225	293	9688											
CAPS2	84698	broad.mit.edu	37	chr12	75678746	75678746	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttaacaaagttacctttcGaacatatgatttcctgtatt	4	8	0	1	rs201652520		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000409445.3	-	16	1763	c.1567C>A	c.(1567-1569)Cga>Aga	p.R523R	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Silent_p.R113R	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(871-873)Cga>Aga		calcyphosine 2							90	80	84					12																	75678746		2201	4300	6501	SO:0001819	synonymous_variant	84698						calcium ion binding	g.chr12:75678746G>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1567C>A	12.37:g.75678746G>T						CAPS2_ENST00000442339.2_Silent_p.R113R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409445.3_Silent_p.R523R|RP11-560G2.1_ENST00000549953.1_RNA	p.R291R			Q9BXY5	CAYP2_HUMAN			15	1472	-			523					Q6PH84|Q8N242|Q8NAY5	Silent	SNP	ENST00000409445.3	37	c.871C>A	CCDS9008.2																																																																																				0.274	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			10	409	1	0	0.000442599	0.000442599	0.00556767	10	409					T	75678746	G	T	75678746	2	4	75	1	0	0	0	0	0	0	0	1	2645	1066	37	3		3	CAPS2	12	75678746	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3640076	75678746	58173149	294	9689											
GAS2L3	283431	broad.mit.edu	37	chr12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccttgtagttgttctcatcGattttctattgagtatttat	6	6	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000539410.1	+	8	1078	c.692G>T	c.(691-693)cGa>cTa	p.R231L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(379-381)cGa>cTa		growth arrest-specific 2 like 3							129	129	129					12																	101016096		2203	4299	6502	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101016096G>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>T	12.37:g.101016096G>T	ENSP00000439672:p.Arg231Leu					GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L	p.R127L			Q86XJ1	GA2L3_HUMAN			9	1334	+			231			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.380G>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042073	0.75732	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.73;1.73;1.72;1.73	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.41558	0.1164	L	0.31476	0.935	0.35362	D	0.78831	D	0.60575	0.988	D	0.66351	0.943	T	0.44143	-0.9347	10	0.62326	D	0.03	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	L	231;231;127;231	ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L	ENSP00000266754:R231L	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	623	1	0	0.000308642	0.000308642	0.00435582	10	623					T	101016096	G	T	101016096	3	4	75	1	0	0	0	0	1	0	0	0	6276	1058	37	3	718	3	GAS2L3	12	101016096	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25337350	101016096	32835799	295	9690											
RFX4	5992	broad.mit.edu	37	chr12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggctctccacgacctccCagaaaacttgcgaaacatca	7	14	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000392842.1	+	9	1319	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	302					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACGACCTCCCAGAAAACTTG	0.398																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(904-906)cCa>cAa		regulatory factor X, 4 (influences HLA class II expression)							88	78	81					12																	107103179		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107103179C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.905C>A	12.37:g.107103179C>A	ENSP00000376585:p.Pro302Gln					RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q|RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron	p.P302Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			9	1319	+			302					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.905C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310682	0.95629	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.91464	-0.74;-0.74;-2.85;0.01	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.996;0.996;0.987	D	0.95640	0.8697	10	0.87932	D	0	-10.1755	19.5955	0.95536	0.0:1.0:0.0:0.0	.	208;311;311;302	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	Q	302;311;311;247;208	ENSP00000376585:P302Q;ENSP00000350552:P311Q;ENSP00000448694:P247Q;ENSP00000229387:P208Q	ENSP00000229387:P208Q	P	+	2	0	RFX4	105627309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.626000	0.88956	0.650000	0.86243	CCA		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	333	1	0	2.17888e-05	0.000442599	0.00047966	7	333					A	107103179	C	A	107103179	3	1	75	1	0	0	0	0	1	0	0	0	13315	594	21	3	1112	3	RFX4	12	107103179	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6087083	107103179	26748716	296	9691											
ACACB	32	broad.mit.edu	37	chr12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaaaccctaaacttcCggagctgctgtgcaagaatg	9	10	1	2	rs199655635		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				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)			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)	CCTAAACTTCCGGAGCTGCTG	0.517																																						ENST00000338432.7																			0				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						c.(1081-1083)cCg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						231	247	242					12																	109610126		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.chr12:109610126C>A	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.1082C>A	12.37:g.109610126C>A	ENSP00000341044:p.Pro361Gln					ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q	p.P361Q			O00763	ACACB_HUMAN			6	1201	+			361			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1082C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155578	0.94686	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.92545	-3.06;-3.06;-3.06	5.23	5.23	0.72850	ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97700	1.0184	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	361	O00763	ACACB_HUMAN	Q	361	ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q	ENSP00000341044:P361Q	P	+	2	0	ACACB	108094509	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	CCG		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		9	857	1	0	0.000442599	0.000442599	0.00556767	9	857					A	109610126	C	A	109610126	3	1	75	1	0	0	0	0	1	0	0	0	107	652	23	3	1100	3	ACACB	12	109610126	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2506947	109610126	24241769	297	9692											
C12orf51	283450	broad.mit.edu	37	chr12	112708208	112708208	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgagttggtgtatgcacatCgcaccaacgtggtgcaataa	11	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:112708208C>A	ENST00000430131.2	-	11	1847	c.702G>T	c.(700-702)gcG>gcT	p.A234A	HECTD4_ENST00000550722.1_Silent_p.A522A|HECTD4_ENST00000377560.5_Silent_p.A484A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	234					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTATGCACATCGCACCAACGT	0.433																																						ENST00000550722.1																			0											c.(1564-1566)gcG>gcT		HECT domain containing E3 ubiquitin protein ligase 4							302	301	301					12																	112708208		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112708208C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.702G>T	12.37:g.112708208C>A						HECTD4_ENST00000430131.2_Silent_p.A234A|HECTD4_ENST00000377560.5_Silent_p.A484A	p.A522A	NM_001109662.3	NP_001103132.3					12	1961	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1566G>T																																																																																					0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	917	1	0	0.00010058	0.00010058	0.00173709	9	917					A	112708208	C	A	112708208	2	1	75	1	0	0	0	0	0	0	0	1	1701	871	31	3		3	C12orf51	12	112708208	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3098082	112708208	21143687	298	9693											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtgcctcccaggagacgttCgggatgaaattgtcagtgta	13	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000556529.1	+	1	449	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.F119L			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(355-357)ttC>ttA		microtubule-associated protein 1 light chain 3 beta 2							154	153	153					12																	117014104		2203	4300	6503	SO:0001583	missense	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117014104C>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.357C>A	12.37:g.117014104C>A	ENSP00000450524:p.Phe119Leu					MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.F119L	p.F119L	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	511	+			119						Missense_Mutation	SNP	ENST00000556529.1	37	c.357C>A	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796431	0.31777	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.56275	0.47;0.47	2.39	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.74881	2.28	0.45648	D	0.998576	D	0.54772	0.968	P	0.60415	0.874	T	0.57112	-0.7867	10	0.87932	D	0	.	2.6389	0.04965	0.2028:0.2782:0.0:0.5189	.	119	A6NCE7	MP3B2_HUMAN	L	119	ENSP00000305059:F119L;ENSP00000450524:F119L	ENSP00000305059:F119L	F	+	3	2	MAP1LC3B2	115498487	0.991000	0.36638	0.134000	0.22075	0.174000	0.22865	0.044000	0.13992	-0.663000	0.05331	-0.587000	0.04127	TTC		0.423	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		8	595	1	0	0.000673444	0.000673444	0.00785517	8	595					A	117014104	C	A	117014104	3	1	75	1	0	0	0	0	1	0	0	0	9273	883	31	3	359	3	MAP1LC3B2	12	117014104	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4305896	117014104	16837791	299	9694											
SBNO1	55206	broad.mit.edu	37	chr12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccattttttttggcattttGaacaactgcagtaagtgtgt	8	6	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000602398.1	-	26	3527	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K|SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3400-3402)Caa>Aaa		strawberry notch homolog 1 (Drosophila)							146	144	145					12																	123794299		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794299G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3400C>A	12.37:g.123794299G>T	ENSP00000473665:p.Gln1134Lys					SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	p.Q1134K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3399	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1134					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3400C>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682710	0.29872	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28255	1.62;1.62	5.3	4.4	0.53042	.	0.072967	0.56097	D	0.000032	T	0.18467	0.0443	N	0.14661	0.345	0.48632	D	0.999684	B;B;B	0.33777	0.425;0.372;0.005	B;B;B	0.31812	0.136;0.083;0.011	T	0.07539	-1.0767	10	0.26408	T	0.33	-15.4955	14.3194	0.66476	0.0732:0.0:0.9268:0.0	.	1134;1133;245	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	K	1134;1133	ENSP00000387361:Q1134K;ENSP00000267176:Q1133K	ENSP00000267176:Q1133K	Q	-	1	0	SBNO1	122360252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.590000	0.61013	2.471000	0.83476	0.467000	0.42956	CAA		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		14	801	1	0	4.93089e-13	0.000219431	1.95113e-11	14	801					T	123794299	G	T	123794299	3	4	75	1	0	0	0	0	1	0	0	0	13912	1299	45	3	809	3	SBNO1	12	123794299	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6780195	123794299	10057596	300	9695											
STX2	2054	broad.mit.edu	37	chr12	131285957	131285958	+	Splice_Site	DEL	CA	CA	-													cacagggccgcacccccactCacgtcggaagtgaagatgga							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131285957_131285958delCA	ENST00000392373.2	-	7	632		c.e7+1		STX2_ENST00000261653.6_Splice_Site	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CACCCCCACTCACGTCGGAAGT	0.505																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.e7+1		syntaxin 2																																				SO:0001630	splice_region_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131285957_131285958delCA	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.537+1TG>-	12.37:g.131285957_131285958delCA						STX2_ENST00000392373.2_Splice_Site		NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	7	704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)							Q86VW8	Splice_Site	DEL	ENST00000392373.2	37		CCDS9270.1																																																																																				0.505	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356	Intron	13	312						13	312	---	---	---	---	-	131285958	CA	-	131285957	8	5	75	1	0	1	0	1	0	0	1	0	15397	841	29	0		0	STX2	12	131285957	Splice_Site	DEL	CA	TCGA-HZ-A77Q-01A-11D-A36O-08	7491658	131285957	2565938	301	9696											
STX2	2054	broad.mit.edu	37	chr12	131297517	131297517	+	Silent	SNP	G	G	T													cttaccctttaacttggctcGaattttattcgcagttttct					rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000392373.2	-	4	359	c.265C>A	c.(265-267)Cga>Aga	p.R89R	snoU13_ENST00000459050.1_RNA|STX2_ENST00000261653.6_Silent_p.R89R|RP11-989F5.1_ENST00000546264.1_lincRNA|RP11-989F5.3_ENST00000542821.1_lincRNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436). {ECO:0000305}.	acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(265-267)Cga>Aga		syntaxin 2							91	96	94					12																	131297517		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297517G>T	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.265C>A	12.37:g.131297517G>T						STX2_ENST00000392373.2_Silent_p.R89R	p.R89R	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	431	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		89	R -> A (in Ref. 1; BAA03436).				Q86VW8	Silent	SNP	ENST00000392373.2	37	c.265C>A	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		21	757	1	0	9.22233e-05	0.000720815	0.00168099	21	757					T	131297517	G	T	131297517	2	4	75	1	0	0	0	0	0	0	0	1	15397	1066	37	3		3	STX2	12	131297517	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11560	131297517	2554378	302	9697	62	2									
STX2	2054	broad.mit.edu	37	chr12	131297527	131297527	+	Silent	SNP	C	C	A													aacttggctcgaattttattCgcagttttcttgatttcttt					rs372307871		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297527C>A	ENST00000392373.2	-	4	349	c.255G>T	c.(253-255)gcG>gcT	p.A85A	snoU13_ENST00000459050.1_RNA|STX2_ENST00000261653.6_Silent_p.A85A|RP11-989F5.1_ENST00000546264.1_lincRNA|RP11-989F5.3_ENST00000542821.1_lincRNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	85					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GAATTTTATTCGCAGTTTTCT	0.249																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(253-255)gcG>gcT		syntaxin 2							97	100	99					12																	131297527		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297527C>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.255G>T	12.37:g.131297527C>A						STX2_ENST00000392373.2_Silent_p.A85A	p.A85A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	421	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		85					Q86VW8	Silent	SNP	ENST00000392373.2	37	c.255G>T	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		10	719	1	0	1.05317e-09	0.000219431	3.94277e-08	10	719					A	131297527	C	A	131297527	2	1	75	1	0	0	0	0	0	0	0	1	15397	871	31	3		3	STX2	12	131297527	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10	131297527	2554368	303	9698	62	2									
EP400	57634	broad.mit.edu	37	chr12	132537935	132537935	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccggccgtggcccagccAcccccgccccagccgcagcc	11	24	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:132537935A>C	ENST00000333577.4	+	44	7738	c.7629A>C	c.(7627-7629)ccA>ccC	p.P2543P	EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389561.2_Silent_p.P2507P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000389562.2_Silent_p.P2506P			Q96L91	EP400_HUMAN	E1A binding protein p400	2543	Interaction with ZNF42. {ECO:0000250}.|Poly-Pro.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGCCCAgccacccccgcccc	0.731																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7627-7629)ccA>ccC		E1A binding protein p400																																				SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132537935A>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7629A>C	12.37:g.132537935A>C						EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389562.2_Silent_p.P2506P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000389561.2_Silent_p.P2507P	p.P2543P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	44	7738	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2543			Interaction with ZNF42 (By similarity).|Poly-Pro.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.7629A>C																																																																																					0.731	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	69	0	0	0	0.000308642	0	10	69					C	132537935	A	C	132537935	2	2	75	1	0	0	0	0	0	0	0	1	5167	146	6	4		4	EP400	12	132537935	Silent	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	1240408	132537935	1313960	304	9699											
PARP4	143	broad.mit.edu	37	chr13	25029162	25029162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagcgcactcacctgtgccGaactggataatatttacttt	7	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:25029162G>T	ENST00000381989.3	-	22	2856	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2749-2751)ttC>ttA		poly (ADP-ribose) polymerase family, member 4							226	195	206					13																	25029162		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029162G>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2751C>A	13.37:g.25029162G>T	ENSP00000371419:p.Phe917Leu						p.F917L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2856	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	917			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2751C>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772737	0.69992	.	.	ENSG00000102699	ENST00000381989	T	0.38077	1.16	4.72	-0.894	0.10563	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.89287	3.02	0.42033	D	0.991034	D	0.76494	0.999	D	0.80764	0.994	T	0.59768	-0.7392	10	0.87932	D	0	-24.2667	8.1535	0.31154	0.6155:0.0:0.3845:0.0	.	917	Q9UKK3	PARP4_HUMAN	L	917	ENSP00000371419:F917L	ENSP00000371419:F917L	F	-	3	2	PARP4	23927162	0.993000	0.37304	0.961000	0.40146	0.954000	0.61252	0.325000	0.19628	-0.205000	0.10219	-0.476000	0.04901	TTC		0.532	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		9	725	1	0	1.58986e-06	0.000673444	4.62318e-05	9	725					T	25029162	G	T	25029162	3	4	75	1	0	0	0	0	1	0	0	0	11505	1049	37	3	2475	3	PARP4	13	25029162	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		25029162	90140716	305	9700											
KL	9365	broad.mit.edu	37	chr13	33628294	33628294	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctttcctggattgaccttGaatttaaccatcctcaaata	5	10	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:33628294G>T	ENST00000380099.3	+	2	1218	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1210-1212)Gaa>Taa		klotho							153	159	157					13																	33628294		2203	4300	6503	SO:0001587	stop_gained	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628294G>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1210G>T	13.37:g.33628294G>T	ENSP00000369442:p.Glu404*					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	p.E404*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1218	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	404			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Nonsense_Mutation	SNP	ENST00000380099.3	37	c.1210G>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	38	7.221397	0.98143	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	.	.	.	5.9	5.9	0.94986	.	0.047074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-31.2488	15.7291	0.77788	0.0:0.1359:0.8641:0.0	.	.	.	.	X	97;404	.	ENSP00000369442:E404X	E	+	1	0	KL	32526294	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.776000	0.85560	2.806000	0.96561	0.655000	0.94253	GAA		0.418	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			12	868	1	0	1.49906e-05	0.000219431	0.000353665	12	868					T	33628294	G	T	33628294	4	4	75	1	0	0	0	0	0	1	0	0	8361	1291	45	3	1216	3	KL	13	33628294	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8599132	33628294	81541584	306	9701											
MLNR	2862	broad.mit.edu	37	chr13	49796387	49796387	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcggcctttaaactgctgctCgcaaggaagtccaggccgag	13	12	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1111-1113)ctC>ctA		motilin receptor							81	81	81					13																	49796387		2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796387C>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1113C>A	13.37:g.49796387C>A						MLNR_ENST00000398307.1_3'UTR	p.L371L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1113	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	371						Silent	SNP	ENST00000218721.1	37	c.1113C>A	CCDS9414.1																																																																																				0.547	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		9	676	1	0	0.000274275	0.000274275	0.0039602	9	676					A	49796387	C	A	49796387	2	1	75	1	0	0	0	0	0	0	0	1	9673	871	31	3		3	MLNR	13	49796387	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	16168093	49796387	65373491	307	9702											
UTP14C	9724	broad.mit.edu	37	chr13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaatcatttcccttgatGgaaagaataggcggaaattg	10	6	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(160-162)Gga>Tga		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							203	210	208					13																	52603100		2203	4300	6503	SO:0001587	stop_gained	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603100G>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.160G>T	13.37:g.52603100G>T	ENSP00000428619:p.Gly54*					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.G54*	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	893	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	54					Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	c.160G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	40	8.021356	0.98613	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.69	2.69	0.31865	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.8199	11.1082	0.48216	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000428619:G54X	G	+	1	0	UTP14C	51501101	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.303000	0.51858	1.515000	0.48885	0.551000	0.68910	GGA		0.458	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		12	874	1	0	0.000422831	0.000422831	0.00556767	12	874					T	52603100	G	T	52603100	4	4	75	1	0	0	0	0	0	1	0	0	17150	1349	47	3	162	3	UTP14C	13	52603100	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2806713	52603100	62566778	308	9703											
SUGT1	10910	broad.mit.edu	37	chr13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatgcacagtattattgtCaaagagcttattgtcacatt	7	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000343788.6	+	3	230	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	50					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353																																						ENST00000310528.7																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(148-150)Caa>Aaa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							106	93	97					13																	53231718		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53231718C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.148C>A	13.37:g.53231718C>A	ENSP00000367208:p.Gln50Lys					SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q50K	p.Q50K	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	3	203	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	50					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.148C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383544	0.42207	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.59364	0.27;0.27	4.21	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059373	0.64402	D	0.000002	T	0.43433	0.1247	N	0.21508	0.67	0.80722	D	1	P;P	0.36599	0.56;0.459	B;B	0.40659	0.336;0.175	T	0.37079	-0.9721	10	0.02654	T	1	-2.4714	15.6949	0.77488	0.0:1.0:0.0:0.0	.	50;50	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	50	ENSP00000367208:Q50K;ENSP00000308067:Q50K	ENSP00000308067:Q50K	Q	+	1	0	SUGT1	52129719	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.484000	0.66844	2.047000	0.60756	0.467000	0.42956	CAA		0.353	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			8	361	1	0	0.000442599	0.000442599	0.00556767	8	361					A	53231718	C	A	53231718	3	1	75	1	0	0	0	0	1	0	0	0	15421	827	29	3	158	3	SUGT1	13	53231718	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	628618	53231718	61938160	309	9704											
DACH1	1602	broad.mit.edu	37	chr13	72204773	72204773	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctcatggcttctaatttGatttttttcaccttcattgc	5	9	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000359684.2	-	3	1046	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000305425.4_Silent_p.I349I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	349	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1045-1047)atC>atA		dachshund homolog 1 (Drosophila)							196	176	182					13																	72204773		1840	4092	5932	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204773G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1047C>A	13.37:g.72204773G>T						DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000359684.2_Silent_p.I349I|DACH1_ENST00000354591.4_Intron	p.I349I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1469	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	347			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1047C>A																																																																																					0.408	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		15	813	1	0	3.52763e-06	0.000566183	9.80211e-05	15	813					T	72204773	G	T	72204773	2	4	75	1	0	0	0	0	0	0	0	1	4231	1280	45	3		3	DACH1	13	72204773	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18973055	72204773	42965105	310	9705											
ABCC4	10257	broad.mit.edu	37	chr13	95847155	95847155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatctgacggcagctgacGgttgcgctgtgatatctcat	11	11	2	3	rs200696756		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:95847155G>T	ENST00000376887.4	-	9	1312	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGCAGCTGACGGTTGCGCTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1198-1200)Cgt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						110	97	101					13																	95847155		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95847155G>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1198C>A	13.37:g.95847155G>T	ENSP00000366084:p.Arg400Ser					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S	p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			9	1312	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		400					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1198C>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	5.565	0.289104	0.10513	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90900	-2.68;-2.66;-2.75;-2.69	4.98	-5.98	0.02220	ABC transporter, transmembrane domain, type 1 (1);	1.564160	0.03478	N	0.214653	T	0.72953	0.3525	N	0.04705	-0.18	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.67662	-0.5613	10	0.09590	T	0.72	.	2.5393	0.04722	0.1621:0.0945:0.3336:0.4098	.	325;400;400;400;400	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	400;400;325;400	ENSP00000388657:R400S;ENSP00000366084:R400S;ENSP00000442024:R325S;ENSP00000398562:R400S	ENSP00000366084:R400S	R	-	1	0	ABCC4	94645156	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.368000	0.20399	-0.928000	0.03761	0.462000	0.41574	CGT		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	241	1	0	0.000274275	0.000274275	0.0039602	6	241					T	95847155	G	T	95847155	3	4	75	1	0	0	0	0	1	0	0	0	55	1116	39	3	2920	3	ABCC4	13	95847155	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	23642382	95847155	19322723	311	9706											
TPP2	7174	broad.mit.edu	37	chr13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaactggaaaaattgtattCaagtaagtgatatttaaaat	6	2	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376065.4	+	28	3694	c.3658C>A	c.(3658-3660)Caa>Aaa	p.Q1220K	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.Q1233K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					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)			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)					AAATTGTATTCAAGTAAGTGA	0.308																																						ENST00000376052.3																			0				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						c.(3697-3699)Caa>Aaa		tripeptidyl peptidase II							55	58	57					13																	103328763		2198	4289	6487	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103328763C>A	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.3658C>A	13.37:g.103328763C>A	ENSP00000365233:p.Gln1220Lys					TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K	p.Q1233K			P29144	TPP2_HUMAN			29	3713	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1220					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3697C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183587	0.57800	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.55481	1.735	0.80722	D	1	P	0.44006	0.824	B	0.36092	0.217	T	0.50849	-0.8779	9	0.12430	T	0.62	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	1220	P29144	TPP2_HUMAN	K	1220;1233	.	ENSP00000365220:Q1233K	Q	+	1	0	TPP2	102126764	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.140000	0.77322	2.746000	0.94184	0.563000	0.77884	CAA		0.308	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			13	745	1	0	2.31682e-05	0.000308642	0.000501203	13	745					A	103328763	C	A	103328763	3	1	75	1	0	0	0	0	1	0	0	0	16465	827	29	3	3768	3	TPP2	13	103328763	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7481608	103328763	11841115	312	9707											
KDELC1	79070	broad.mit.edu	37	chr13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaacagaatcagtcaaatCgtacgtaggcatcacgatat	8	9	3	2	rs565697033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(811-813)Gat>Tat		KDEL (Lys-Asp-Glu-Leu) containing 1							260	276	271					13																	103443642		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443642C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.811G>T	13.37:g.103443642C>A	ENSP00000365172:p.Asp271Tyr					KDELC1_ENST00000460338.1_5'UTR	p.D271Y	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1147	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		271					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.811G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	KDELC1	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT		0.453	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			12	1214	1	0	0.00010058	0.00010058	0.00173709	12	1214					A	103443642	C	A	103443642	3	1	75	1	0	0	0	0	1	0	0	0	8147	884	31	3	721	3	KDELC1	13	103443642	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	114879	103443642	11726236	313	9708											
COL4A2	1284	broad.mit.edu	37	chr13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccagcatggggagagacCagcgcgcggtggccggccct	17	15	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	COL4A1_ENST00000375820.4_5'Flank|COL4A1_ENST00000543140.1_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(13-15)Cag>Aag		collagen, type IV, alpha 2							25	32	29					13																	110960263		1977	4142	6119	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960263C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.13C>A	13.37:g.110960263C>A	ENSP00000353654:p.Gln5Lys						p.Q5K	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		2	319	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	5					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.13C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	COL4A2	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG		0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		30	218	1	0	6.50621e-10	0.000491102	2.48029e-08	30	218					A	110960263	C	A	110960263	3	1	75	1	0	0	0	0	1	0	0	0	3699	595	21	3	15	3	COL4A2	13	110960263	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7516621	110960263	4209615	314	9709											
UPF3A	65110	broad.mit.edu	37	chr13	115057115	115057115	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccatgtctttagagaattCgagaagagaagcgagaagaa	11	5	1	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000351487.5_Silent_p.R199R|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448																																						ENST00000375299.3																			1	Substitution - Nonsense(1)	p.R232*(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(694-696)Cga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							65	65	65					13																	115057115		2203	4300	6503	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115057115C>A	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.694C>A	13.37:g.115057115C>A						UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	p.R232R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	7	750	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	232					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.694C>A	CCDS9543.1																																																																																				0.448	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			14	851	1	0	0.000566183	0.000566183	0.00706542	14	851					A	115057115	C	A	115057115	2	1	75	1	0	0	0	0	0	0	0	1	17059	876	31	3		3	UPF3A	13	115057115	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4096852	115057115	112763	315	9710											
OR4K5	79317	broad.mit.edu	37	chr14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggagaatttctgaaatgtCactagtagtgagaacttcct	9	6	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(943-945)tCa>tAa		olfactory receptor, family 4, subfamily K, member 5							78	89	85					14																	20389709		2197	4299	6496	SO:0001587	stop_gained	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389709C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.944C>A	14.37:g.20389709C>A	ENSP00000319511:p.Ser315*						p.S315*	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	969	+	all_cancers(95;0.00108)		315					Q6IFA7	Nonsense_Mutation	SNP	ENST00000315915.4	37	c.944C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.174	0.792368	0.16258	.	.	ENSG00000176281	ENST00000315915	.	.	.	3.86	2.97	0.34412	.	0.722095	0.11958	N	0.513029	.	.	.	.	.	.	0.27428	N	0.954092	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.382	0.21540	0.0:0.773:0.0:0.227	.	.	.	.	X	315	.	ENSP00000319511:S315X	S	+	2	0	OR4K5	19459549	0.002000	0.14202	0.078000	0.20375	0.003000	0.03518	0.686000	0.25392	0.963000	0.38082	-0.143000	0.13931	TCA		0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		14	1050	1	0	0.00010058	0.00010058	0.00173709	14	1050					A	20389709	C	A	20389709	4	1	75	1	0	0	0	0	0	1	0	0	11115	838	29	3	946	3	OR4K5	14	20389709	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		20389709	86959831	316	9711											
FANCM	57697	broad.mit.edu	37	chr14	45605717	45605717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaggtgatgggtatcccGcaatcccacatggccgaaat	10	12	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000267430.5	+	1	568	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Silent_p.P161P|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(481-483)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							62	63	62					14																	45605717		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605717G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.483G>A	14.37:g.45605717G>A						FANCM_ENST00000542564.2_Silent_p.P161P|FANCM_ENST00000556036.1_Silent_p.P161P	p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	568	+			161			Helicase ATP-binding.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.483G>A	CCDS32070.1																																																																																				0.502	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	287	0	0	0	0.000157383	0	6	287					A	45605717	G	A	45605717	2	1	75	1	0	0	0	0	0	0	0	1	5696	1074	38	1		1	FANCM	14	45605717	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25216008	45605717	61743823	317	9712											
KLHDC2	23588	broad.mit.edu	37	chr14	50241390	50241390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccattcaagaggcaatacCaataaggttagtgtttctaa	7	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000298307.5	+	3	1206	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000554589.1_Silent_p.T115T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(343-345)acC>acA		kelch domain containing 2							231	220	224					14																	50241390		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50241390C>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.345C>A	14.37:g.50241390C>A						KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR	p.T115T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			3	1206	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		115					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.345C>A	CCDS9693.1																																																																																				0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			10	853	1	0	5.50884e-06	0.00010058	0.000142319	10	853					A	50241390	C	A	50241390	2	1	75	1	0	0	0	0	0	0	0	1	8386	581	21	3		3	KLHDC2	14	50241390	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4635673	50241390	57108150	318	9713											
C14orf37	145407	broad.mit.edu	37	chr14	58605921	58605921	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctattttctaggtcatcGgtgttcatcttatcggactg	10	8	4	0	rs377287561		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(154-156)acC>acA		chromosome 14 open reading frame 37							272	268	269					14																	58605921		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605921G>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.156C>A	14.37:g.58605921G>T						C14orf37_ENST00000334342.5_5'UTR	p.T52T	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	350	-			52					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.156C>A	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		9	963	1	0	2.17888e-05	0.000442599	0.00047966	9	963					T	58605921	G	T	58605921	2	4	75	1	0	0	0	0	0	0	0	1	1776	1103	39	3		3	C14orf37	14	58605921	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8364531	58605921	48743619	319	9714											
ARID4A	5926	broad.mit.edu	37	chr14	58814545	58814545	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgaacctgaggaaaatatCgattcaaacagtgaaagtga	10	5	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58814545C>A	ENST00000355431.3	+	15	1726	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1351-1353)atC>atA		AT rich interactive domain 4A (RBP1-like)							75	79	78					14																	58814545		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814545C>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1353C>A	14.37:g.58814545C>A						ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I	p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			15	1726	+			451					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.1353C>A	CCDS9732.1																																																																																				0.313	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		10	422	1	0	1.5842e-08	0.000151284	5.6922e-07	10	422					A	58814545	C	A	58814545	2	1	75	1	0	0	0	0	0	0	0	1	919	874	31	3		3	ARID4A	14	58814545	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	208624	58814545	48534995	320	9715											
SYT16	83851	broad.mit.edu	37	chr14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agagctgttggtggggctctCgtacaatgccacaacggggc	15	10	1	1	rs191032067		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1540-1542)tCg>tAg		synaptotagmin XVI							83	83	83					14																	62551020		2008	4156	6164	SO:0001587	stop_gained	83851							g.chr14:62551020C>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1541C>A	14.37:g.62551020C>A	ENSP00000394700:p.Ser514*						p.S514*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1738	+			514			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	ENST00000430451.2	37	c.1541C>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684779	0.98431	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.44	3.54	0.40534	.	0.187548	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2436	10.2901	0.43590	0.0:0.7905:0.1341:0.0754	.	.	.	.	X	514	.	ENSP00000394700:S514X	S	+	2	0	SYT16	61620773	0.912000	0.30974	0.917000	0.36280	0.990000	0.78478	1.901000	0.39838	0.779000	0.33543	0.643000	0.83706	TCG		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		8	446	1	0	3.09899e-07	0.000274275	9.98704e-06	8	446					A	62551020	C	A	62551020	4	1	75	1	0	0	0	0	0	1	0	0	15524	893	31	3	1559	3	SYT16	14	62551020	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3736475	62551020	44798520	321	9716											
DCAF5	8816	broad.mit.edu	37	chr14	69522283	69522283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcgtcctcaatccgacCgtcgaggtctccagtacatc	9	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:69522283C>A	ENST00000341516.5	-	9	1267	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	374					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCAATCCGACCGTCGAGGTCT	0.493																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1120-1122)Ggt>Tgt		DDB1 and CUL4 associated factor 5							165	159	161					14																	69522283		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522283C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1120G>T	14.37:g.69522283C>A	ENSP00000341351:p.Gly374Cys					DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C	p.G374C	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1267	-			374					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1120G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072490	0.76415	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.70399	-0.48;-0.31;-0.31;0.14	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.959	T	0.79564	-0.1751	10	0.87932	D	0	-17.6055	20.1218	0.97964	0.0:1.0:0.0:0.0	.	373;374	G3V4J7;Q96JK2	.;DCAF5_HUMAN	C	374;292;292;373	ENSP00000341351:G374C;ENSP00000451551:G292C;ENSP00000452052:G292C;ENSP00000451845:G373C	ENSP00000341351:G374C	G	-	1	0	DCAF5	68592036	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	7.336000	0.79245	2.763000	0.94921	0.561000	0.74099	GGT		0.493	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		10	770	1	0	0.000673444	0.000673444	0.00785517	10	770					A	69522283	C	A	69522283	3	1	75	1	0	0	0	0	1	0	0	0	4284	652	23	3	1712	3	DCAF5	14	69522283	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6971263	69522283	37827257	322	9717											
RBM25	58517	broad.mit.edu	37	chr14	73578904	73578904	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatggattaataagaaaatCatagaatatataggtgaaga	8	3	1	4	rs374029666		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000527432.1_Silent_p.I779I|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2335-2337)atC>atA		RNA binding motif protein 25							133	145	141					14																	73578904		2203	4297	6500	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578904C>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2337C>A	14.37:g.73578904C>A						RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	p.I779I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	17	2622	+			779			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2337C>A	CCDS32113.1																																																																																				0.303	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		12	974	1	0	6.40141e-05	6.40141e-05	0.00117365	12	974					A	73578904	C	A	73578904	2	1	75	1	0	0	0	0	0	0	0	1	13175	816	29	3		3	RBM25	14	73578904	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4056621	73578904	33770636	323	9718											
ACOT4	122970	broad.mit.edu	37	chr14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttataactttgaagatctccCcaataacatggacaacatat	4	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(589-591)cCc>cAc		acyl-CoA thioesterase 4							158	148	151					14																	74060538		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060538C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.590C>A	14.37:g.74060538C>A	ENSP00000323071:p.Pro197His						p.P197H	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	844	+			197					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.590C>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	ACOT4	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC		0.468	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		10	780	1	0	5.50884e-06	0.00010058	0.000142319	10	780					A	74060538	C	A	74060538	3	1	75	1	0	0	0	0	1	0	0	0	153	623	22	3	596	3	ACOT4	14	74060538	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	481634	74060538	33289002	324	9719											
POMT2	29954	broad.mit.edu	37	chr14	77751907	77751907	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcgacttctcagcactttGatccggtttccaaatttcct	5	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1399-1401)atC>atA		protein-O-mannosyltransferase 2							287	317	307					14																	77751907		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751907G>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1401C>A	14.37:g.77751907G>T							p.I467I	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1603	-			467			MIR 3.		Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.1401C>A	CCDS9857.1																																																																																				0.453	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		14	1522	1	0	0.000274275	0.000274275	0.0039602	14	1522					T	77751907	G	T	77751907	2	4	75	1	0	0	0	0	0	0	0	1	12288	1280	45	3		3	POMT2	14	77751907	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3691369	77751907	29597633	325	9720											
NRXN3	9369	broad.mit.edu	37	chr14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtggacttgaatggaCgcctgccagacctcatcaat	9	12	3	2	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					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)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1																			0				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						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136	116	122		1960	6	1	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2451	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1960C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	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	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		43	299	0	0	0	0.000781405	0	43	299					T	79434626	C	T	79434626	3	4	75	1	0	0	0	0	1	0	0	0	10709	536	19	1	1994	1	NRXN3	14	79434626	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1682719	79434626	27914914	326	9721											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		12	150						12	150	---	---	---	---	-	93397926	GAG	-	93397924	7	5	75	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-HZ-A77Q-01A-11D-A36O-08	13963298	93397924	13951616	327	9722											
HHIPL1	84439	broad.mit.edu	37	chr14	100123403	100123403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcttttcggggatgaCgggtacctctacatcttcac	10	12	3	1	rs140994822	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242	242	242		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T						HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			3	1067	+		Melanoma(154;0.128)	323					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.969C>T	CCDS45162.1																																																																																				0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		154	1208	0	0	0	0.000781405	0	154	1208					T	100123403	C	T	100123403	2	4	75	1	0	0	0	0	0	0	0	1	7123	535	19	1		1	HHIPL1	14	100123403	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6725479	100123403	7226137	328	9723											
OCA2	4948	broad.mit.edu	37	chr15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcgtggagtccaCgtggctgctaaggttcacgg	15	11	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000353809.5_Missense_Mutation_p.V223M|OCA2_ENST00000382996.2_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(667-669)Gtg>Atg		oculocutaneous albinism II							28	24	26					15																	28263683		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263683C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.667G>A	15.37:g.28263683C>T	ENSP00000346659:p.Val223Met					OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	822	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	223					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.667G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	OCA2	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		17	94	0	0	0	0.00074312	0	17	94					T	28263683	C	T	28263683	3	4	75	1	0	0	0	0	1	0	0	0	10857	536	19	1	1921	1	OCA2	15	28263683	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		28263683	74267709	329	9724											
HERC2	8924	broad.mit.edu	37	chr15	28478313	28478313	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctctttttccttcgttctcGaattatcttttgagctatcc	4	11	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CTTCGTTCTCGAATTATCTTT	0.383																																						ENST00000261609.7																			0				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						c.(4654-4656)Cga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97	102	100					15																	28478313		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.chr15:28478313G>T	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.4654C>A	15.37:g.28478313G>T							p.R1552R	NM_004667.5	NP_004658.3	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)	30	4762	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1552						Silent	SNP	ENST00000261609.7	37	c.4654C>A	CCDS10021.1																																																																																				0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	636	1	0	3.45872e-05	0.000422831	0.000740545	14	636					T	28478313	G	T	28478313	2	4	75	1	0	0	0	0	0	0	0	1	7088	1066	37	3		3	HERC2	15	28478313	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	214630	28478313	74053079	330	9725											
MGA	23269	broad.mit.edu	37	chr15	42019576	42019576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggaattaaatctccacGgtcatatactcccaaaccca	4	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:42019576G>T	ENST00000570161.1	+	9	3629	c.3629G>T	c.(3628-3630)cGg>cTg	p.R1210L	MGA_ENST00000545763.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L|MGA_ENST00000219905.7_Missense_Mutation_p.R1210L|MGA_ENST00000389936.4_Missense_Mutation_p.R1210L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATCTCCACGGTCATATACT	0.398																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3628-3630)cGg>cTg		MGA, MAX dimerization protein							153	146	148					15																	42019576		1856	4093	5949	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019576G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3629G>T	15.37:g.42019576G>T	ENSP00000457035:p.Arg1210Leu					MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000570161.1_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L	p.R1210L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	10	3810	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1210					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3629G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224774	0.58668	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86865	-2.15;-2.18;-2.09	5.98	5.07	0.68467	.	0.428361	0.20611	N	0.088972	D	0.88496	0.6452	N	0.24115	0.695	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.947	T	0.82168	-0.0591	10	0.87932	D	0	.	13.2741	0.60178	0.0727:0.0:0.9273:0.0	.	1210;1210	F5H7K2;E7ENI0	.;.	L	1210	ENSP00000219905:R1210L;ENSP00000374586:R1210L;ENSP00000442467:R1210L	ENSP00000219905:R1210L	R	+	2	0	MGA	39806868	0.916000	0.31088	0.010000	0.14722	0.361000	0.29550	2.809000	0.47971	1.541000	0.49316	0.655000	0.94253	CGG		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	658	1	0	0.000442599	0.000442599	0.00556767	9	658					T	42019576	G	T	42019576	3	4	75	1	0	0	0	0	1	0	0	0	9581	1116	39	3	3663	3	MGA	15	42019576	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	13541263	42019576	60511816	331	9726											
CEP152	22995	broad.mit.edu	37	chr15	49034207	49034207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aataatatttgcgcatctttCgggcggtttcttgacgttct	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:49034207C>A	ENST00000380950.2	-	25	4113	c.3926G>T	c.(3925-3927)cGa>cTa	p.R1309L	CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L|CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1309					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCGCATCTTTCGGGCGGTTTC	0.433																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3925-3927)cGa>cTa		centrosomal protein 152kDa							178	162	167					15																	49034207		1899	4117	6016	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034207C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3926G>T	15.37:g.49034207C>A	ENSP00000370337:p.Arg1309Leu					CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	p.R1309L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	25	4113	-		all_lung(180;0.0428)	1253					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3926G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025413	0.75390	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.61274	0.12;0.34;0.18	6.03	5.1	0.69264	.	0.072442	0.53938	D	0.000060	T	0.73148	0.3550	M	0.66939	2.045	0.53005	D	0.999963	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.69479	0.917;0.964;0.964	T	0.75193	-0.3404	10	0.87932	D	0	-15.0506	15.5916	0.76534	0.0:0.9335:0.0:0.0665	.	1216;1309;1253	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	L	1309;1216;1253	ENSP00000370337:R1309L;ENSP00000321000:R1216L;ENSP00000382271:R1253L	ENSP00000321000:R1216L	R	-	2	0	CEP152	46821499	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.664000	0.61540	2.861000	0.98227	0.655000	0.94253	CGA		0.433	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		8	649	1	0	3.86212e-05	0.000673444	0.000778902	8	649					A	49034207	C	A	49034207	3	1	75	1	0	0	0	0	1	0	0	0	3257	884	31	3	1218	3	CEP152	15	49034207	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7014631	49034207	53497185	332	9727											
SLC27A2	11001	broad.mit.edu	37	chr15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatatcggtgaactgcttcGgtatttatgcaactcaccac	8	10	1	1	rs554769451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(949-951)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 2							143	117	126					15																	50497538		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497538G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.950G>T	15.37:g.50497538G>T	ENSP00000267842:p.Arg317Leu					SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L	p.R317L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1182	+		all_lung(180;0.00177)	317					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.950G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964749	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52754	0.65;0.88;0.88	5.28	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.114447	0.64402	D	0.000011	T	0.77611	0.4156	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	T	0.81642	-0.0840	10	0.87932	D	0	.	9.6524	0.39906	0.167:0.0:0.833:0.0	.	264;317	Q6PF09;O14975	.;S27A2_HUMAN	L	264;317;82	ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L	ENSP00000267842:R317L	R	+	2	0	SLC27A2	48284830	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.907000	0.69908	0.827000	0.34685	-0.251000	0.11542	CGG		0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		13	624	1	0	3.45872e-05	0.000422831	0.000740545	13	624					T	50497538	G	T	50497538	3	4	75	1	0	0	0	0	1	0	0	0	14576	1116	39	3	964	3	SLC27A2	15	50497538	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1463331	50497538	52033854	333	9728											
DMXL2	23312	broad.mit.edu	37	chr15	51763499	51763499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtctttctgcaggcaccGgtggtggggtagcatctttt	14	8	3	0	rs372032462		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51763499G>T	ENST00000251076.5	-	29	7597	c.7310C>A	c.(7309-7311)cCg>cAg	p.P2437Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2437						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCAGGCACCGGTGGTGGGGT	0.443																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7309-7311)cCg>cAg		Dmx-like 2							188	182	184					15																	51763499		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763499G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7310C>A	15.37:g.51763499G>T	ENSP00000251076:p.Pro2437Gln					DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q	p.P2437Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7597	-			2437					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7310C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563561	0.65651	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.22945	2.07;2.07;1.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.666	D;D;D;B	0.91635	0.991;0.997;0.999;0.269	T	0.05402	-1.0887	10	0.27785	T	0.31	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	2438;1801;2437;2438	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2437;2438;1801	ENSP00000251076:P2437Q;ENSP00000441858:P2438Q;ENSP00000400855:P1801Q	ENSP00000251076:P2437Q	P	-	2	0	DMXL2	49550791	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	8.985000	0.93487	2.758000	0.94735	0.561000	0.74099	CCG		0.443	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		9	772	1	0	3.86212e-05	0.000673444	0.000778902	9	772					T	51763499	G	T	51763499	3	4	75	1	0	0	0	0	1	0	0	0	4611	1116	39	3	1860	3	DMXL2	15	51763499	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1265961	51763499	50767893	334	9729											
DMXL2	23312	broad.mit.edu	37	chr15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcaaagcgttgttttcCaagtaaggaaaaagcatttt	8	5	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(5149-5151)Gga>Tga		Dmx-like 2							142	152	149					15																	51780219		2196	4293	6489	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51780219C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5149G>T	15.37:g.51780219C>A	ENSP00000251076:p.Gly1717*					DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*	p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	22	5436	-			1717					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.5149G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	42	9.303235	0.99130	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5735	0.91145	0.0:1.0:0.0:0.0	.	.	.	.	X	1717;1717;1081	.	ENSP00000251076:G1717X	G	-	1	0	DMXL2	49567511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	2.442000	0.82660	0.585000	0.79938	GGA		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		15	1219	1	0	0.000151284	0.000151284	0.00252221	15	1219					A	51780219	C	A	51780219	4	1	75	1	0	0	0	0	0	1	0	0	4611	603	21	3	4052	3	DMXL2	15	51780219	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	16720	51780219	50751173	335	9730											
LEO1	123169	broad.mit.edu	37	chr15	52254651	52254651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgcattcttgcgtttcattCgtaaaacttcatcttcacta	4	11	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:52254651C>A	ENST00000299601.5	-	3	914	c.854G>T	c.(853-855)cGa>cTa	p.R285L	LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	285	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCGTTTCATTCGTAAAACTTC	0.353																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(853-855)cGa>cTa		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							80	74	76					15																	52254651		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52254651C>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.854G>T	15.37:g.52254651C>A	ENSP00000299601:p.Arg285Leu					LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	3	914	-			285			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.854G>T	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229986	0.58777	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.54	5.54	0.83059	.	0.062516	0.64402	D	0.000005	T	0.50548	0.1622	L	0.56769	1.78	0.80722	D	1	P;P	0.40515	0.491;0.719	B;B	0.34824	0.19;0.149	T	0.50767	-0.8789	9	0.29301	T	0.29	.	13.4184	0.60982	0.0:0.9236:0.0:0.0764	.	285;285	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	L	285;263;285	.	ENSP00000299601:R285L	R	-	2	0	LEO1	50041943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.653000	0.67967	2.597000	0.87782	0.455000	0.32223	CGA		0.353	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		7	283	1	0	0.000442599	0.000442599	0.00556767	7	283					A	52254651	C	A	52254651	3	1	75	1	0	0	0	0	1	0	0	0	8757	884	31	3	1186	3	LEO1	15	52254651	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	474432	52254651	50276741	336	9731											
MNS1	55329	broad.mit.edu	37	chr15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttttctcctcattttcttGaacttttgccatccgatctt	3	13	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(865-867)Caa>Aaa		meiosis-specific nuclear structural 1							163	160	161					15																	56735874		2192	4291	6483	SO:0001583	missense	55329				meiosis			g.chr15:56735874G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.865C>A	15.37:g.56735874G>T	ENSP00000260453:p.Gln289Lys					TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	p.Q289K	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	6	1029	-			289			Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.865C>A	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064587	0.08388	.	.	ENSG00000138587	ENST00000260453	T	0.08370	3.1	5.44	5.44	0.79542	.	0.324258	0.33364	N	0.004991	T	0.06600	0.0169	L	0.31065	0.9	0.22305	N	0.999212	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.05833	T	0.94	-8.4625	14.7812	0.69769	0.0:0.0:0.8554:0.1446	.	289	Q8NEH6	MNS1_HUMAN	K	289	ENSP00000260453:Q289K	ENSP00000260453:Q289K	Q	-	1	0	MNS1	54523166	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.786000	0.55431	2.529000	0.85273	0.637000	0.83480	CAA		0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		10	598	1	0	0.000219431	0.000219431	0.00342116	10	598					T	56735874	G	T	56735874	3	4	75	1	0	0	0	0	1	0	0	0	9718	1299	45	3	642	3	MNS1	15	56735874	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4481223	56735874	45795518	337	9732											
CGNL1	84952	broad.mit.edu	37	chr15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgaaacagaattaataCagatgacaggaaaagatcca	9	6	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1138-1140)aCa>aAa		cingulin-like 1							75	79	77					15																	57731336		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731336C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1139C>A	15.37:g.57731336C>A	ENSP00000281282:p.Thr380Lys						p.T380K	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1217	+			380		T -> P (in dbSNP:rs1280395).	Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1139C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322702	0.23994	.	.	ENSG00000128849	ENST00000281282	T	0.40476	1.03	5.79	4.88	0.63580	.	0.129534	0.35646	N	0.003062	T	0.23806	0.0576	N	0.03608	-0.345	0.21105	N	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.87932	D	0	-8.9807	14.9253	0.70871	0.0:0.9316:0.0:0.0684	.	380	Q0VF96	CGNL1_HUMAN	K	380	ENSP00000281282:T380K	ENSP00000281282:T380K	T	+	2	0	CGNL1	55518628	0.941000	0.31946	0.006000	0.13384	0.196000	0.23810	3.113000	0.50376	1.448000	0.47680	0.655000	0.94253	ACA		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		8	347	1	0	0.000274275	0.000274275	0.0039602	8	347					A	57731336	C	A	57731336	3	1	75	1	0	0	0	0	1	0	0	0	3313	478	17	3	1141	3	CGNL1	15	57731336	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	995462	57731336	44800056	338	9733											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttattgagcgtttcacttccGagaagcccgttcatcacagt	8	11	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTTCACTTCCGAGAAGCCCGT	0.532																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(190-192)Gag>Tag		lactate dehydrogenase A-like 6B	NADH(DB00157)						119	108	112					15																	59499329		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499329G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.190G>T	15.37:g.59499329G>T	ENSP00000302393:p.Glu64*					MYO1E_ENST00000288235.4_Intron	p.E64*	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	288	+			64					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.190G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960368	0.53400	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.47	1.47	0.22746	.	0.084010	0.46758	U	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000302393:E64X	E	+	1	0	LDHAL6B	57286621	1.000000	0.71417	0.011000	0.14972	0.016000	0.09150	2.591000	0.46163	0.784000	0.33661	0.305000	0.20034	GAG		0.532	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		9	444	1	0	0.000274275	0.000274275	0.0039602	9	444					T	59499329	G	T	59499329	4	4	75	1	0	0	0	0	0	1	0	0	8731	1059	37	3	192	3	LDHAL6B	15	59499329	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1767993	59499329	43032063	339	9734											
MYO9A	4649	broad.mit.edu	37	chr15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctgaagggtctgaaccctGaatttccagagatccatatc	8	11	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	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)			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						TCTGAACCCTGAATTTCCAGA	0.358																																						ENST00000356056.5																			0				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						c.(3559-3561)Cag>Aag		myosin IXA							160	169	166					15																	72191285		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.chr15:72191285G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3559C>A	15.37:g.72191285G>T	ENSP00000348349:p.Gln1187Lys					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K	p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4031	-			1187			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3559C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783992	0.16189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.82893	-1.65;-1.66;-1.65	4.91	1.66	0.24008	.	.	.	.	.	T	0.61261	0.2333	N	0.17082	0.46	0.24994	N	0.991511	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.50947	-0.8767	9	0.02654	T	1	.	3.1569	0.06508	0.0942:0.1287:0.5011:0.276	.	1168;1187	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1187;1187;1168	ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K	ENSP00000348349:Q1187K	Q	-	1	0	MYO9A	69978339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.069000	0.41481	1.044000	0.40200	0.585000	0.79938	CAG		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		12	1107	1	0	0.000274275	0.000274275	0.0039602	12	1107					T	72191285	G	T	72191285	3	4	75	1	0	0	0	0	1	0	0	0	10125	1299	45	3	4159	3	MYO9A	15	72191285	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12691956	72191285	30340107	340	9735											
HEXA	3073	broad.mit.edu	37	chr15	72668191	72668191	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactggaattgaaagttgttCgggtaaaggacgtagcgctg	14	5	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000268097.5	-	1	626	c.123G>T	c.(121-123)ccG>ccT	p.P41P	HEXA_ENST00000457859.2_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000429918.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(121-123)ccG>ccT		hexosaminidase A (alpha polypeptide)							136	150	145					15																	72668191		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668191C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.123G>T	15.37:g.72668191C>A						RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P	p.P41P	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			1	626	-			41					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.123G>T	CCDS10243.1																																																																																				0.622	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		12	701	1	0	0.000151284	0.000151284	0.00252221	12	701					A	72668191	C	A	72668191	2	1	75	1	0	0	0	0	0	0	0	1	7103	871	31	3		3	HEXA	15	72668191	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	476906	72668191	29863201	341	9736											
BNC1	646	broad.mit.edu	37	chr15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacccagaaggcaggctaGcaaggctctggtcagccttc	12	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A913V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2758-2760)gCt>gTt		basonuclin 1							207	200	202					15																	83926420		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926420G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2759C>T	15.37:g.83926420G>A	ENSP00000307041:p.Ala920Val					BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	p.A920V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2844	-			920					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2759C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	BNC1	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT		0.537	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		75	812	0	0	0	0.000781405	0	75	812					A	83926420	G	A	83926420	3	1	75	1	0	0	0	0	1	0	0	0	1476	971	34	2	229	2	BNC1	15	83926420	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11258229	83926420	18604972	342	9737											
SEC11A	23478	broad.mit.edu	37	chr15	85224008	85224008	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtttatagaggcctcGgtcatcaaccgcattattat	7	10	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000558134.1_Silent_p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408																																						ENST00000268220.7																			0				ovary(1)	1						c.(367-369)Cga>Aga		SEC11 homolog A (S. cerevisiae)							216	197	203					15																	85224008		1860	4094	5954	SO:0001819	synonymous_variant	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85224008G>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.367C>A	15.37:g.85224008G>T						SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000560266.1_Silent_p.R123R	p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		4	1007	-			123					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	c.367C>A	CCDS45340.1																																																																																				0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		10	746	1	0	1.49906e-05	0.000219431	0.000353665	10	746					T	85224008	G	T	85224008	2	4	75	1	0	0	0	0	0	0	0	1	14028	1124	39	3		3	SEC11A	15	85224008	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1297588	85224008	17307384	343	9738											
ALPK3	57538	broad.mit.edu	37	chr15	85366575	85366575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttagcttatcaagcaaccGgttgtctcaccccagctctg	8	14	3	0	rs145993158	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85366575G>T	ENST00000258888.5	+	2	931	c.764G>T	c.(763-765)cGg>cTg	p.R255L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	255					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAAGCAACCGGTTGTCTCAC	0.453																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(763-765)cGg>cTg		alpha-kinase 3							237	203	214					15																	85366575		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85366575G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.764G>T	15.37:g.85366575G>T	ENSP00000258888:p.Arg255Leu						p.R255L	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		2	931	+			255					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.764G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721442	0.68959	.	.	ENSG00000136383	ENST00000258888	T	0.62788	0.0	5.91	5.0	0.66597	.	0.170295	0.35708	N	0.003027	T	0.54967	0.1891	N	0.24115	0.695	0.34256	D	0.679319	D	0.58970	0.984	P	0.49332	0.607	T	0.69514	-0.5125	10	0.72032	D	0.01	-16.9288	11.0653	0.47972	0.0845:0.0:0.9155:0.0	.	255	Q96L96	ALPK3_HUMAN	L	255	ENSP00000258888:R255L	ENSP00000258888:R255L	R	+	2	0	ALPK3	83167579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.872000	0.56085	1.505000	0.48720	-0.140000	0.14226	CGG		0.453	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	664	1	0	9.31168e-06	0.000151284	0.000235695	8	664					T	85366575	G	T	85366575	3	4	75	1	0	0	0	0	1	0	0	0	546	1116	39	3	770	3	ALPK3	15	85366575	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	142567	85366575	17164817	344	9739											
PDE8A	5151	broad.mit.edu	37	chr15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggccccatgagatttcatCaagatcaacttcaggtaata	7	9	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GAGATTTCATCAAGATCAACT	0.363																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(229-231)Caa>Aaa		phosphodiesterase 8A							130	115	120					15																	85607643		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85607643C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.229C>A	15.37:g.85607643C>A	ENSP00000311453:p.Gln77Lys					PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K	p.Q77K			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		3	481	+	Colorectal(223;0.227)		77					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.229C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056234	0.36277	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70631	-0.5;-0.5;-0.46	5.65	4.73	0.59995	.	0.201377	0.43579	D	0.000552	T	0.58680	0.2139	L	0.29908	0.895	0.37679	D	0.92342	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.56817	-0.7916	10	0.23891	T	0.37	.	14.3705	0.66836	0.0:0.8508:0.1492:0.0	.	77;77	O60658-2;O60658	.;PDE8A_HUMAN	K	77	ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K	ENSP00000311453:Q77K	Q	+	1	0	PDE8A	83408647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.930000	0.48924	1.368000	0.46115	0.511000	0.50034	CAA		0.363	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		8	436	1	0	0.000274275	0.000274275	0.0039602	8	436					A	85607643	C	A	85607643	3	1	75	1	0	0	0	0	1	0	0	0	11695	827	29	3	235	3	PDE8A	15	85607643	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	241068	85607643	16923749	345	9740											
AKAP13	11214	broad.mit.edu	37	chr15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggattttagagcaagttCaatttctgaagaagtggctg	12	4	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4087-4089)tCa>tAa		A kinase (PRKA) anchor protein 13							112	107	108					15																	86128981		2202	4299	6501	SO:0001587	stop_gained	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86128981C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4088C>A	15.37:g.86128981C>A	ENSP00000378026:p.Ser1363*					AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	p.S1363*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			8	4183	+			1363					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	c.4088C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	AKAP13	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		9	380	1	0	0.000442599	0.000442599	0.00556767	9	380					A	86128981	C	A	86128981	4	1	75	1	0	0	0	0	0	1	0	0	449	838	29	3	4114	3	AKAP13	15	86128981	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	521338	86128981	16402411	346	9741											
FANCI	55215	broad.mit.edu	37	chr15	89828362	89828362	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagccattacaattctgtCgccaatgaaactttttgcct	5	12	1	1	rs536499156		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1732-1734)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							216	186	196					15																	89828362		2200	4299	6499	SO:0001819	synonymous_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89828362C>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>A	15.37:g.89828362C>A						FANCI_ENST00000300027.8_Silent_p.V578V	p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			18	1820	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		578					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.1734C>A	CCDS45346.1																																																																																				0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		11	662	1	0	9.31168e-06	0.000151284	0.000235695	11	662					A	89828362	C	A	89828362	2	1	75	1	0	0	0	0	0	0	0	1	5694	871	31	3		3	FANCI	15	89828362	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3699381	89828362	12703030	347	9742											
BLM	641	broad.mit.edu	37	chr15	91306341	91306341	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actaatcagctagaggcgatCaatgctgcactgcttggtga	11	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2026-2028)atC>atA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							118	123	121					15																	91306341		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91306341C>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2028C>A	15.37:g.91306341C>A						BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	p.I676I	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		8	2146	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		676			Helicase ATP-binding.		Q52M96	Silent	SNP	ENST00000355112.3	37	c.2028C>A	CCDS10363.1																																																																																				0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			13	704	1	0	0.000132079	0.000132079	0.00227481	13	704					A	91306341	C	A	91306341	2	1	75	1	0	0	0	0	0	0	0	1	1447	816	29	3		3	BLM	15	91306341	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1477979	91306341	11225051	348	9743											
IGF1R	3480	broad.mit.edu	37	chr15	99454613	99454613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcatcataacctggcaccGgtaccggccccctgactaca	7	17	2	1	rs33958176	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99454613G>T	ENST00000268035.6	+	7	2143	c.1532G>T	c.(1531-1533)cGg>cTg	p.R511L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R511L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	511	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs33958176).		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACCTGGCACCGGTACCGGCCC	0.527																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM071804	IGF1R	M	rs33958176	c.(1531-1533)cGg>cTg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						169	140	149					15																	99454613		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454613G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1532G>T	15.37:g.99454613G>T	ENSP00000268035:p.Arg511Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.R511L	p.R511L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		7	2143	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		511		R -> Q (in dbSNP:rs33958176).	Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1532G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178532	0.78564	.	.	ENSG00000140443	ENST00000268035	T	0.68181	-0.31	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000049	T	0.65923	0.2738	M	0.74258	2.255	0.53688	D	0.999978	P;P	0.49961	0.93;0.771	B;B	0.40982	0.345;0.124	T	0.67007	-0.5779	10	0.31617	T	0.26	.	14.326	0.66521	0.071:0.0:0.9289:0.0	.	511;511	C9J5X1;P08069	.;IGF1R_HUMAN	L	511	ENSP00000268035:R511L	ENSP00000268035:R511L	R	+	2	0	IGF1R	97272136	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.891000	0.63185	2.837000	0.97791	0.655000	0.94253	CGG		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		6	286	1	0	0.000157383	0.000157383	0.00254253	6	286					T	99454613	G	T	99454613	3	4	75	1	0	0	0	0	1	0	0	0	7601	1116	39	3	1558	3	IGF1R	15	99454613	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8148272	99454613	3076779	349	9744											
SYNM	23336	broad.mit.edu	37	chr15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctaacctgtcagggcacCgtggatctcagacgggcaca	11	12	3	1	rs569686388		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000560674.1	+	4	755	c.286C>A	c.(286-288)Cgt>Agt	p.R96S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.R381S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGGCACCGTGGATCTCA	0.488																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1141-1143)Cgt>Agt		synemin, intermediate filament protein							175	178	177					15																	99669709		1942	4137	6079	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669709C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.286C>A	15.37:g.99669709C>A	ENSP00000453040:p.Arg96Ser					SYNM_ENST00000560674.1_Missense_Mutation_p.R96S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S	p.R381S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1261	+			382			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1141C>A		.	.	.	.	.	.	.	.	.	.	C	7.619	0.676397	0.14841	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.82255	-1.56;-1.59	4.65	-1.51	0.08664	.	.	.	.	.	T	0.66436	0.2789	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.002	T	0.48714	-0.9011	8	0.22109	T	0.4	.	5.6352	0.17532	0.0:0.276:0.168:0.556	.	382;381	O15061;C9JIE4	SYNEM_HUMAN;.	S	381	ENSP00000336775:R381S;ENSP00000330469:R381S	ENSP00000330469:R381S	R	+	1	0	SYNM	97487232	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.153000	0.10144	-0.145000	0.11294	0.585000	0.79938	CGT		0.488	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		8	915	1	0	0.000442599	0.000442599	0.00556767	8	915					A	99669709	C	A	99669709	3	1	75	1	0	0	0	0	1	0	0	0	15507	652	23	3	1157	3	SYNM	15	99669709	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	215096	99669709	2861683	350	9745											
MSLNL	401827	broad.mit.edu	37	chr16	830540	830540	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtaggtgacagtgtgcacGggtaggtgacagtgtgcacg	17	6	0	2	rs267604652		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:830540G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.P154L			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCACGGGTAGGTGAC	0.557																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(460-462)cCg>cTg		mesothelin-like							295	256	269					16																	830540		2178	4254	6432	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830540G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-378C>T	16.37:g.830540G>A						MSLNL_ENST00000442466.1_Intron	p.P154L			Q96KJ4	MSLNL_HUMAN			3	460	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.461C>T		.	.	.	.	.	.	.	.	.	.	G	6.230	0.410596	0.11812	.	.	ENSG00000162006	ENST00000293892	T	0.38722	1.12	1.3	0.3	0.15776	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	5	.	.	.	.	5.3392	0.15974	0.2155:0.0:0.7845:0.0	.	.	.	.	L	154	ENSP00000293892:P154L	.	P	-	2	0	MSLNL	770541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.165000	0.00282	0.115000	0.18071	0.391000	0.25812	CCG		0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	645	0	0	0	3.59834e-05	0	6	645					A	830540	G	A	830540	1	1	75	0	1	0	0	0	0	0	0	0	9923	1116	39	1		1	MSLNL	16	830540	Intron	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		830540	89524213	351	9746											
SSTR5	6755	broad.mit.edu	37	chr16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccggcctctacttcttcGtggtcatcctctcctacgcc	7	19	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTACTTCTTCGTGGTCATCCT	0.622																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(865-867)Gtg>Atg		somatostatin receptor 5	Octreotide(DB00104)						83	88	86					16																	1129733		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129733G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.865G>A	16.37:g.1129733G>A	ENSP00000293897:p.Val289Met					SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	p.V289M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	953	+		Hepatocellular(780;0.00369)	289					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.865G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	SSTR5	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG		0.622	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			32	164	0	0	0	0.000814825	0	32	164					A	1129733	G	A	1129733	3	1	75	1	0	0	0	0	1	0	0	0	15253	1145	40	1	867	1	SSTR5	16	1129733	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	299193	1129733	89225020	352	9747											
ZNF200	7752	broad.mit.edu	37	chr16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccatctccttgtcctcCgatttcgagtaagggcaata	8	11	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					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)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413																																						ENST00000431561.3																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(736-738)cGg>cTg		zinc finger protein 200							124	115	118					16																	3274343		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274343C>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.737G>T	16.37:g.3274343C>A	ENSP00000395723:p.Arg246Leu					ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L	p.R246L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN			5	1349	-			246					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.737G>T	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	ZNF200	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG		0.413	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			7	560	1	0	0.000274275	0.000274275	0.0039602	7	560					A	3274343	C	A	3274343	3	1	75	1	0	0	0	0	1	0	0	0	17815	652	23	3	454	3	ZNF200	16	3274343	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2144610	3274343	87080410	353	9748											
PMM2	5373	broad.mit.edu	37	chr16	8900255	8900255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgcgaaaattaaactccCgaagaagaggtgggtttgct	11	7	0	2	rs80338700		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:8900255C>A	ENST00000268261.4	+	4	404	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971224	PMM2	M	rs80338700	c.(337-339)cCg>cAg		phosphomannomutase 2							76	73	74					16																	8900255		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900255C>A	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.338C>A	16.37:g.8900255C>A	ENSP00000268261:p.Pro113Gln					PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	p.P113Q	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	404	+			113		P -> L (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.338C>A	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688655	0.88639	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.99394	-5.82;-5.82	5.29	5.29	0.74685	HAD-like domain (1);	0.049768	0.85682	D	0.000000	D	0.99616	0.9860	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.97892	1.0298	10	0.62326	D	0.03	.	17.9324	0.89002	0.0:1.0:0.0:0.0	.	30;113;113	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	Q	113;30	ENSP00000268261:P113Q;ENSP00000445879:P30Q	ENSP00000268261:P113Q	P	+	2	0	PMM2	8807756	1.000000	0.71417	0.944000	0.38274	0.875000	0.50365	7.466000	0.80914	2.466000	0.83321	0.591000	0.81541	CCG		0.403	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		11	391	1	0	3.86212e-05	0.000673444	0.000778902	11	391					A	8900255	C	A	8900255	3	1	75	1	0	0	0	0	1	0	0	0	12179	652	23	3	352	3	PMM2	16	8900255	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5625912	8900255	81454498	354	9749											
RSL1D1	26156	broad.mit.edu	37	chr16	11933615	11933615	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgggatttcgtcttcGgattcatttgttgctttaac	10	7	2	0	rs144452977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1081-1083)tcC>tcA		ribosomal L1 domain containing 1							306	266	279					16																	11933615		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933615G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1083C>A	16.37:g.11933615G>T						RSL1D1_ENST00000542106.1_Silent_p.S141S	p.S361S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			8	1155	-			361					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.1083C>A	CCDS10551.1																																																																																				0.398	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		10	804	1	0	9.31168e-06	0.000151284	0.000235695	10	804					T	11933615	G	T	11933615	2	4	75	1	0	0	0	0	0	0	0	1	13750	1103	39	3		3	RSL1D1	16	11933615	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3033360	11933615	78421138	355	9750											
KIAA0430	9665	broad.mit.edu	37	chr16	15719310	15719310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgtggctttggcactGgaagattgttcacttgcatc	12	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000602337.1_Silent_p.S621S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	624					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(1870-1872)tcC>tcA		KIAA0430							123	118	120					16																	15719310		1835	4094	5929	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15719310G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1872C>A	16.37:g.15719310G>T						KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000540441.2_Intron	p.S624S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			8	2078	-			623					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.1872C>A	CCDS10562.2																																																																																				0.368	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	603	1	0	6.40141e-05	6.40141e-05	0.00117365	8	603					T	15719310	G	T	15719310	2	4	75	1	0	0	0	0	0	0	0	1	8207	1335	47	3		3	KIAA0430	16	15719310	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3785695	15719310	74635443	356	9751											
ACSM2B	348158	broad.mit.edu	37	chr16	20548635	20548635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttgtctcgaagtttggttCgttgaattttccctgtgaca	9	9	1	2	rs369392849		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:20548635C>A	ENST00000329697.6	-	14	1847	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1678-1680)cGa>cTa		acyl-CoA synthetase medium-chain family member 2B							258	237	244					16																	20548635		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548635C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1679G>T	16.37:g.20548635C>A	ENSP00000327453:p.Arg560Leu					ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	p.R560L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			14	1847	-			560					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1679G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771870	0.31320	.	.	ENSG00000066813	ENST00000329697	T	0.61980	0.06	3.09	2.12	0.27331	.	0.000000	0.37577	N	0.002027	T	0.73636	0.3612	M	0.66297	2.02	0.29017	N	0.886545	D	0.89917	1.0	D	0.97110	1.0	T	0.67852	-0.5563	10	0.87932	D	0	-10.6762	9.9369	0.41556	0.0:0.8946:0.0:0.1054	.	560	Q68CK6	ACS2B_HUMAN	L	560	ENSP00000327453:R560L	ENSP00000327453:R560L	R	-	2	0	ACSM2B	20456136	0.011000	0.17503	0.002000	0.10522	0.037000	0.13140	2.510000	0.45468	0.617000	0.30160	-0.192000	0.12808	CGA		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		12	1048	1	0	0.000219431	0.000219431	0.00342116	12	1048					A	20548635	C	A	20548635	3	1	75	1	0	0	0	0	1	0	0	0	184	884	31	3	58	3	ACSM2B	16	20548635	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4829325	20548635	69806118	357	9752											
PHKG2	5261	broad.mit.edu	37	chr16	30762913	30762913	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctagcttcatgttcctGgtgtttgacctgtgagtatc	9	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:30762913G>T	ENST00000563588.1	+	4	554	c.315G>T	c.(313-315)ctG>ctT	p.L105L	PHKG2_ENST00000328273.7_Silent_p.L105L|PHKG2_ENST00000424889.3_Silent_p.L105L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L105L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCATGTTCCTGGTGTTTGACC	0.537																																						ENST00000563588.1																			1	Substitution - coding silent(1)	p.L105L(1)	lung(1)	ovary(1)|skin(1)	2						c.(313-315)ctG>ctT		phosphorylase kinase, gamma 2 (testis)							510	447	468					16																	30762913		2197	4300	6497	SO:0001819	synonymous_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762913G>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.315G>T	16.37:g.30762913G>T						PHKG2_ENST00000424889.3_Silent_p.L105L|PHKG2_ENST00000328273.7_Silent_p.L105L	p.L105L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	554	+			105			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	c.315G>T	CCDS10690.1																																																																																				0.537	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		13	1358	1	0	3.07112e-06	6.40141e-05	8.57171e-05	13	1358					T	30762913	G	T	30762913	2	4	75	1	0	0	0	0	0	0	0	1	11889	1335	47	3		3	PHKG2	16	30762913	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10214278	30762913	59591840	358	9753											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttatcctcctgcttgcGggcatgctgtttaagtaaaa	8	8	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000379925.3	-	3	255	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R69C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTGCTTGCGGGCATGCTGT	0.368																																						ENST00000262135.4																			1	Substitution - Missense(1)	p.R69C(1)	large_intestine(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(205-207)Cgc>Agc		RPGRIP1-like							126	129	128					16																	53730088		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730088G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.205C>A	16.37:g.53730088G>T	ENSP00000369257:p.Arg69Ser					RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S	p.R69S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			3	298	-		all_cancers(37;0.0973)	69					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.205C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473342	0.12461	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87887	-2.31;-2.31	5.73	0.185	0.15096	.	0.439409	0.24615	N	0.037005	T	0.78329	0.4266	L	0.48642	1.525	0.25924	N	0.983084	B;B;B;B	0.18310	0.005;0.007;0.027;0.01	B;B;B;B	0.15052	0.005;0.011;0.011;0.012	T	0.62765	-0.6785	10	0.27082	T	0.32	-0.0133	6.443	0.21861	0.2592:0.0:0.553:0.1878	.	69;69;69;69	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	69	ENSP00000369257:R69S;ENSP00000262135:R69S	ENSP00000262135:R69S	R	-	1	0	RPGRIP1L	52287589	0.994000	0.37717	0.999000	0.59377	0.978000	0.69477	0.921000	0.28718	0.363000	0.24346	-0.244000	0.11960	CGC		0.368	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		12	871	1	0	0.00010058	0.00010058	0.00173709	12	871					T	53730088	G	T	53730088	3	4	75	1	0	0	0	0	1	0	0	0	13600	1116	39	3	3842	3	RPGRIP1L	16	53730088	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	22967175	53730088	36624665	359	9754											
SF3B3	23450	broad.mit.edu	37	chr16	70564776	70564776	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtagttggagtagatgtcGgatttgaaaatccaatgttt	11	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:70564776G>T	ENST00000302516.5	+	4	737	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	176					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTAGATGTCGGATTTGAAAA	0.413																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(526-528)Gga>Tga		splicing factor 3b, subunit 3, 130kDa							220	212	214					16																	70564776		2198	4300	6498	SO:0001587	stop_gained	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70564776G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.526G>T	16.37:g.70564776G>T	ENSP00000305790:p.Gly176*						p.G176*	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			4	737	+		Ovarian(137;0.0694)	176					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Nonsense_Mutation	SNP	ENST00000302516.5	37	c.526G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579056	0.98371	.	.	ENSG00000189091	ENST00000302516;ENST00000310750	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.521	0.95184	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000305790:G176X	G	+	1	0	SF3B3	69122277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.859000	0.99545	2.615000	0.88500	0.579000	0.79373	GGA		0.413	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		10	905	1	0	6.40141e-05	6.40141e-05	0.00117365	10	905					T	70564776	G	T	70564776	4	4	75	1	0	0	0	0	0	1	0	0	14202	1117	39	3	536	3	SF3B3	16	70564776	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16834688	70564776	19789977	360	9755											
CLEC18B	497190	broad.mit.edu	37	chr16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgaagcctgcAgctccacgcagttgccaaac	11	13	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1258-1260)cTg>cAg		C-type lectin domain family 18, member B							126	112	117					16																	74443519		2196	4297	6493	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443519A>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1259T>A	16.37:g.74443519A>T	ENSP00000341051:p.Leu420Gln						p.L420Q	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			12	1380	-			420			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1259T>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	CLEC18B	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		20	361	0	0	0	0.000184323	0	20	361					T	74443519	A	T	74443519	3	4	75	1	0	0	0	0	1	0	0	0	3512	188	7	5	116	5	CLEC18B	16	74443519	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	3878743	74443519	15911234	361	9756											
SDR42E1	93517	broad.mit.edu	37	chr16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcttaagacaccgtcgCctctgtccaggggtgtagca	12	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(520-522)gGc>gAc		short chain dehydrogenase/reductase family 42E, member 1							84	85	85					16																	82033377		2045	4198	6243	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033377C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.521G>A	16.37:g.82033377C>T	ENSP00000332407:p.Gly174Asp					SDR42E1_ENST00000534209.1_5'UTR	p.G174D	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	648	-			174					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.521G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	SDR42E1	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC		0.557	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		30	514	0	0	0	0.000227799	0	30	514					T	82033377	C	T	82033377	3	4	75	1	0	0	0	0	1	0	0	0	14023	739	26	2	664	2	SDR42E1	16	82033377	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7589858	82033377	8321376	362	9757											
SPATA22	84690	broad.mit.edu	37	chr17	3370750	3370750	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaggaaaatcataattgtCagaaggggtactgatacctg	12	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:3370750C>A	ENST00000573128.1	-	3	625	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000541913.1_Intron			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	48					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATAATTGTCAGAAGGGGTA	0.328																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(142-144)Gac>Tac		spermatogenesis associated 22							125	125	125					17																	3370750		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3370750C>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.142G>T	17.37:g.3370750C>A	ENSP00000459580:p.Asp48Tyr					SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y	p.D48Y			Q8NHS9	SPT22_HUMAN			3	625	-			48					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.142G>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.998442	0.54147	.	.	ENSG00000141255	ENST00000397168;ENST00000268981	T;T	0.25250	1.89;1.81	5.28	5.28	0.74379	.	0.305336	0.27451	N	0.019319	T	0.34250	0.0891	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.63192	0.912;0.874	T	0.04165	-1.0972	10	0.62326	D	0.03	-14.2456	9.5042	0.39037	0.1592:0.6871:0.1537:0.0	.	48;48	B4DXB1;Q8NHS9	.;SPT22_HUMAN	Y	48	ENSP00000380354:D48Y;ENSP00000268981:D48Y	ENSP00000268981:D48Y	D	-	1	0	SPATA22	3317500	0.726000	0.28059	1.000000	0.80357	0.833000	0.47200	0.667000	0.25112	2.638000	0.89438	0.563000	0.77884	GAC		0.328	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		11	562	1	0	1.67942e-08	0.00074312	5.99983e-07	11	562					A	3370750	C	A	3370750	3	1	75	1	0	0	0	0	1	0	0	0	15060	826	29	3	977	3	SPATA22	17	3370750	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		3370750	77824460	363	9758											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	187	0	0	0	0.000589545	0	38	187					A	7577539	G	A	7577539	3	1	75	1	0	0	0	0	1	0	0	0	16434	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4206789	7577539	73617671	364	9759											
MYH8	4626	broad.mit.edu	37	chr17	10317271	10317271	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgctgcttttgcttgaatttCatgttcccataatgcatcac	6	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:10317271C>A	ENST00000403437.2	-	12	1189	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	365	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)			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						GCTTGAATTTCATGTTCCCAT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(1093-1095)atG>atT		myosin, heavy chain 8, skeletal muscle, perinatal							164	155	158					17																	10317271		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.chr17:10317271C>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.1095G>T	17.37:g.10317271C>A	ENSP00000384330:p.Met365Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.M365I	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			12	1189	-			365			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1095G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808986	0.70797	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85773	-2.03	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.136497	0.32901	U	0.005511	D	0.82600	0.5072	L	0.41124	1.26	0.54753	D	0.999987	B	0.16396	0.017	B	0.27262	0.078	T	0.80202	-0.1480	10	0.87932	D	0	.	18.164	0.89719	0.0:1.0:0.0:0.0	.	365	P13535	MYH8_HUMAN	I	365	ENSP00000384330:M365I	ENSP00000252173:M365I	M	-	3	0	MYH8	10257996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.836000	0.69375	2.534000	0.85438	0.650000	0.86243	ATG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		10	710	1	0	6.40141e-05	6.40141e-05	0.00117365	10	710					A	10317271	C	A	10317271	3	1	75	1	0	0	0	0	1	0	0	0	10082	826	29	3	4834	3	MYH8	17	10317271	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2739732	10317271	70877939	365	9760											
MAP2K4	6416	broad.mit.edu	37	chr17	12013744	12013744	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaaattattcacagagGtgggtatggattggtatttt	11	3	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000353533.5	+	6	748		c.e6+1		MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.e7+1		mitogen-activated protein kinase kinase 4							89	90	89					17																	12013744		2203	4299	6502	SO:0001630	splice_region_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12013744G>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.685+1G>T	17.37:g.12013744G>T						MAP2K4_ENST00000353533.5_Splice_Site				P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	771	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)						B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	ENST00000353533.5	37		CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.		0.308	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		Intron	46	403	1	0	2.55665e-31	0.000781405	1.03793e-29	46	403					T	12013744	G	T	12013744	5	4	75	1	0	0	0	0	0	0	1	0	9280	1275	44	3	708	3	MAP2K4	17	12013744	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1696473	12013744	69181466	366	9761											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		8	349	0	0	0	0.000673444	0	8	349					T	16285491	C	T	16285491	2	4	75	1	0	0	0	0	0	0	0	1	16895	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4271747	16285491	64909719	367	9762											
WSB1	26118	broad.mit.edu	37	chr17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttttgacaagaaatgtggtCgtgaaaattggactgttgct	11	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398																																						ENST00000262394.2																			0				lung(3)	3						c.(103-105)Cgt>Agt		WD repeat and SOCS box containing 1							249	239	243					17																	25628876		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25628876C>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.103C>A	17.37:g.25628876C>A	ENSP00000262394:p.Arg35Ser					WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S	p.R35S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	419	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		35					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.103C>A	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	WSB1	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT		0.398	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		12	857	1	0	0.000308642	0.000308642	0.00435582	12	857					A	25628876	C	A	25628876	3	1	75	1	0	0	0	0	1	0	0	0	17458	884	31	3	109	3	WSB1	17	25628876	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9343385	25628876	55566334	368	9763											
NUFIP2	57532	broad.mit.edu	37	chr17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catacttccaaatgggcttcGaaccatctactcgatttccc	5	14	1	0	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(826-828)tCg>tAg		nuclear fragile X mental retardation protein interacting protein 2							128	127	127					17																	27614185		2203	4300	6503	SO:0001587	stop_gained	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614185G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.827C>A	17.37:g.27614185G>T	ENSP00000225388:p.Ser276*					NUFIP2_ENST00000579665.1_Intron	p.S276*	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	885	-			276					A1L3A6|Q9P2M5	Nonsense_Mutation	SNP	ENST00000225388.4	37	c.827C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211356	0.79240	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.275258	0.31784	N	0.007073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-16.4165	10.4929	0.44760	0.0688:0.1344:0.7967:0.0	.	.	.	.	X	276	.	ENSP00000225388:S276X	S	-	2	0	NUFIP2	24638311	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	3.846000	0.55888	2.941000	0.99782	0.655000	0.94253	TCG		0.438	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	680	1	0	0.000673444	0.000673444	0.00785517	9	680					T	27614185	G	T	27614185	4	4	75	1	0	0	0	0	0	1	0	0	10791	1059	37	3	1272	3	NUFIP2	17	27614185	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1985309	27614185	53581025	369	9764											
RHOT1	55288	broad.mit.edu	37	chr17	30521075	30521075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacttggactgtgcttcgacGatttggttatgatgatgacc	11	7	0	3	rs116192944		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:30521075G>T	ENST00000333942.6	+	11	1057	c.818G>T	c.(817-819)cGa>cTa	p.R273L	RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000358365.3_Missense_Mutation_p.R273L|RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTGCTTCGACGATTTGGTTAT	0.333																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(817-819)cGa>cTa		ras homolog family member T1							475	464	468					17																	30521075		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521075G>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.818G>T	17.37:g.30521075G>T	ENSP00000334724:p.Arg273Leu					RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000333942.6_Missense_Mutation_p.R273L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L	p.R273L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			11	1045	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	273					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.818G>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613425	0.66672	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42513	0.97;0.97;0.97	5.97	5.97	0.96955	EF hand associated, type-2 (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.987;0.984	D;D;P;P	0.74348	0.917;0.983;0.851;0.875	T	0.73665	-0.3911	10	0.87932	D	0	-5.1279	20.4135	0.99023	0.0:0.0:1.0:0.0	.	273;273;273;273	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	L	273	ENSP00000351132:R273L;ENSP00000378184:R273L;ENSP00000334724:R273L	ENSP00000334724:R273L	R	+	2	0	RHOT1	27545188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.835000	0.97688	0.591000	0.81541	CGA		0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		13	1521	1	0	3.86212e-05	0.000673444	0.000778902	13	1521					T	30521075	G	T	30521075	3	4	75	1	0	0	0	0	1	0	0	0	13393	1058	37	3	860	3	RHOT1	17	30521075	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2906890	30521075	50674135	370	9765											
MYO1D	4642	broad.mit.edu	37	chr17	31039082	31039082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taaacaatgttcggggtgttCgaatgaaaattttggtcttc	10	5	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:31039082C>A	ENST00000318217.5	-	16	2349	c.2045G>T	c.(2044-2046)cGa>cTa	p.R682L	MYO1D_ENST00000394649.4_Missense_Mutation_p.R594L|MYO1D_ENST00000579584.1_Missense_Mutation_p.R682L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	682	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCGGGGTGTTCGAATGAAAAT	0.383																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2044-2046)cGa>cTa		myosin ID							212	207	208					17																	31039082		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31039082C>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2045G>T	17.37:g.31039082C>A	ENSP00000324527:p.Arg682Leu					MYO1D_ENST00000579584.1_Missense_Mutation_p.R682L|MYO1D_ENST00000394649.4_Missense_Mutation_p.R594L	p.R682L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		16	2349	-			682			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2045G>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104240	0.94245	.	.	ENSG00000176658	ENST00000318217	T	0.74632	-0.86	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.000000	0.35378	U	0.003254	D	0.91352	0.7272	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94179	0.7430	10	0.87932	D	0	.	16.0416	0.80687	0.0:1.0:0.0:0.0	.	593;682	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	682	ENSP00000324527:R682L	ENSP00000324527:R682L	R	-	2	0	MYO1D	28063195	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.593000	0.82686	2.646000	0.89796	0.655000	0.94253	CGA		0.383	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			12	807	1	0	0.000219431	0.000219431	0.00342116	12	807					A	31039082	C	A	31039082	3	1	75	1	0	0	0	0	1	0	0	0	10112	884	31	3	1003	3	MYO1D	17	31039082	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	518007	31039082	50156128	371	9766											
AMAC1	146861	broad.mit.edu	37	chr17	33521042	33521042	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcggatgtcaggagttccCagaagggggtcgccacgcag	15	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:33521042C>A	ENST00000297307.5	-	1	370	c.285G>T	c.(283-285)ctG>ctT	p.L95L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	95	EamA 1.					integral component of membrane (GO:0016021)											CAGGAGTTCCCAGAAGGGGGT	0.602																																						ENST00000297307.5																			0											c.(283-285)ctG>ctT		solute carrier family 35, member G3							134	141	138					17																	33521042		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521042C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.285G>T	17.37:g.33521042C>A							p.L95L	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	370	-			95			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.285G>T	CCDS11293.1																																																																																				0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		8	699	1	0	3.86212e-05	0.000673444	0.000778902	8	699					A	33521042	C	A	33521042	2	1	75	1	0	0	0	0	0	0	0	1	559	581	21	3		3	AMAC1	17	33521042	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2481960	33521042	47674168	372	9767											
SRCIN1	80725	broad.mit.edu	37	chr17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctccttcagctggccCgctcagctcatgcaggttca	11	14	4	1	rs533940451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16597	0.0		0.0	False		,,,				2504	0.0					ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2626-2628)Ggg>Agg		SRC kinase signaling inhibitor 1							37	43	41					17																	36708223		1921	4117	6038	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.chr17:36708223C>T		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.2626G>A	17.37:g.36708223C>T	ENSP00000264659:p.Gly876Arg					SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	p.G876R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			14	2850	-			748			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2626G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	SRCIN1	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG		0.602	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		31	230	0	0	0	0.000409698	0	31	230					T	36708223	C	T	36708223	3	4	75	1	0	0	0	0	1	0	0	0	15188	652	23	1	949	1	SRCIN1	17	36708223	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3187181	36708223	44486987	373	9768											
KRT24	192666	broad.mit.edu	37	chr17	38857542	38857542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccggagacacagctcgttCtcatacctggaaggggcagc	13	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(703-705)gaG>gaA		keratin 24							52	48	49					17																	38857542		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857542C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.705G>A	17.37:g.38857542C>T							p.E235E	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			3	761	-		Breast(137;0.00526)	235			Coil 1B.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.705G>A	CCDS11372.1																																																																																				0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		19	143	0	0	0	0.000132079	0	19	143					T	38857542	C	T	38857542	2	4	75	1	0	0	0	0	0	0	0	1	8491	912	32	2		2	KRT24	17	38857542	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2149319	38857542	42337668	374	9769											
KRT33B	3884	broad.mit.edu	37	chr17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggatctccgccagctGggactccacgttggtgatca	12	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(970-972)Cag>Aag		keratin 33B							48	55	53					17																	39521158		2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521158G>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.970C>A	17.37:g.39521158G>T	ENSP00000251646:p.Gln324Lys						p.Q324K	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			6	1019	-		Breast(137;0.000496)	324			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.970C>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	KRT33B	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG		0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		16	291	1	0	5.3912e-06	0.00074312	0.000142319	16	291					T	39521158	G	T	39521158	3	4	75	1	0	0	0	0	1	0	0	0	8500	1357	47	3	252	3	KRT33B	17	39521158	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	663616	39521158	41674052	375	9770											
NBR1	4077	broad.mit.edu	37	chr17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaggattgttggtgtcCgctaccagtgtaggtaagca	13	6	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					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)			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)		TGTTGGTGTCCGCTACCAGTG	0.438																																						ENST00000422280.1																			0				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						c.(682-684)Cgc>Agc		neighbor of BRCA1 gene 1							147	138	141					17																	41341806		1919	4137	6056	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341806C>A	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.682C>A	17.37:g.41341806C>A	ENSP00000411250:p.Arg228Ser					NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	1141	+		Breast(137;0.00086)	228					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.682C>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	NBR1	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC		0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		9	606	1	0	2.80697e-09	6.40141e-05	1.03231e-07	9	606					A	41341806	C	A	41341806	3	1	75	1	0	0	0	0	1	0	0	0	10242	652	23	3	708	3	NBR1	17	41341806	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1820648	41341806	39853404	376	9771											
TTLL6	284076	broad.mit.edu	37	chr17	46862366	46862366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttactgggctccaacttCgagctgctgagattgatatt	11	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1957-1959)tcG>tcA		tubulin tyrosine ligase-like family, member 6							126	126	126					17																	46862366		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862366C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1959G>A	17.37:g.46862366C>T						TTLL6_ENST00000433608.2_Silent_p.S346S	p.S653S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	2100	-			605						Silent	SNP	ENST00000393382.3	37	c.1959G>A	CCDS45724.1																																																																																				0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		70	398	0	0	0	0.000781405	0	70	398					T	46862366	C	T	46862366	2	4	75	1	0	0	0	0	0	0	0	1	16785	871	31	1		1	TTLL6	17	46862366	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5520560	46862366	34332844	377	9772											
RNF43	54894	broad.mit.edu	37	chr17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-													acaaagatggtgcccaccacTgtcattaggatccacacatc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(610-612)acfs		ring finger protein 43							111	93	99					17																	56439980		2203	4300	6503	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439980delT		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.612delA	17.37:g.56439980delT	ENSP00000463069:p.Thr204fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs	p.T204fs			Q68DV7	RNF43_HUMAN			5	2567	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		204					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.612delA	CCDS11607.1																																																																																				0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		47	320						47	320	---	---	---	---	-	56439980	T	-	56439980	7	5	75	1	0	1	0	1	0	0	0	0	13545	1567	55	0	1759	0	RNF43	17	56439980	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	9577614	56439980	24755230	378	9773											
PRKCA	5578	broad.mit.edu	37	chr17	64728884	64728884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccttccaacaaccttgacCgagtgaaactcacggacttc	6	14	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(997-999)Cga>Aga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						141	140	140					17																	64728884		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64728884C>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.997C>A	17.37:g.64728884C>A							p.R333R	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		9	1023	+			333					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.997C>A	CCDS11664.1																																																																																				0.478	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			10	719	1	0	0.000442599	0.000442599	0.00556767	10	719					A	64728884	C	A	64728884	2	1	75	1	0	0	0	0	0	0	0	1	12554	644	23	3		3	PRKCA	17	64728884	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8288904	64728884	16466326	379	9774											
MRPS7	51081	broad.mit.edu	37	chr17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggaggccgtttctacCaggtgaatgaatggccaggg	15	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000245539.6	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|MRPS7_ENST00000579761.1_Missense_Mutation_p.Q169K|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000538886.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(505-507)Cag>Aag		mitochondrial ribosomal protein S7							203	197	199					17																	73259586		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73259586C>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.505C>A	17.37:g.73259586C>A	ENSP00000245539:p.Gln169Lys					MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K	p.Q169K			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	732	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		169					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.505C>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095441	0.36952	.	.	ENSG00000125445	ENST00000245539	T	0.55052	0.54	5.13	5.13	0.70059	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85168	0.0996	10	0.87932	D	0	-38.3607	18.9531	0.92647	0.0:1.0:0.0:0.0	.	169	Q9Y2R9	RT07_HUMAN	K	169	ENSP00000245539:Q169K	ENSP00000245539:Q169K	Q	+	1	0	MRPS7	70771181	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.776000	0.85560	2.532000	0.85374	0.563000	0.77884	CAG		0.507	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		10	910	1	0	3.86212e-05	0.000673444	0.000778902	10	910					A	73259586	C	A	73259586	3	1	75	1	0	0	0	0	1	0	0	0	9889	595	21	3	519	3	MRPS7	17	73259586	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8530702	73259586	7935624	380	9775											
QRICH2	84074	broad.mit.edu	37	chr17	74288268	74288268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggaccaaaccatgctgaActgcaccaggttggaccaaa	10	11	0	1	rs6501874	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:74288268A>T	ENST00000262765.5	-	4	2221	c.2042T>A	c.(2041-2043)gTt>gAt	p.V681D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	681	Gln-rich.		V -> D (in dbSNP:rs6501874).							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						accatgctgaactgcaccagg	0.562																																						ENST00000262765.5																			0				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						c.(2041-2043)gTt>gAt		glutamine rich 2							94	90	92					17																	74288268		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288268A>T	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.2042T>A	17.37:g.74288268A>T	ENSP00000262765:p.Val681Asp						p.V681D	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	2221	-			681		V -> D (in dbSNP:rs6501874).	Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.2042T>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.405553	0.01155	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.24151	1.87	4.68	-9.36	0.00629	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23048	-1.0199	9	0.27785	T	0.31	1.904	2.112	0.03705	0.3005:0.1142:0.1299:0.4554	rs6501874;rs6501874	681;681	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	681	ENSP00000262765:V681D	ENSP00000262765:V681D	V	-	2	0	QRICH2	71799863	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.321000	0.00131	-5.541000	0.00013	-6.136000	0.00000	GTT		0.562	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		6	323	0	0	0	0.000673444	0	6	323					T	74288268	A	T	74288268	3	4	75	1	0	0	0	0	1	0	0	0	12930	43	2	5	3013	5	QRICH2	17	74288268	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	1028682	74288268	6906942	381	9776											
CBX4	8535	broad.mit.edu	37	chr17	77808649	77808649	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccatgtatttgctcatcacGatcacgatgcgtccgttctt	7	12	4	0	rs369332437		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTCATCACGATCACGATGC	0.582											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(790-792)atC>atA		chromobox homolog 4							259	237	244					17																	77808649		2201	4297	6498	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808649G>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.792C>A	17.37:g.77808649G>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.I264I	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	969	-			264			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.792C>A	CCDS32758.1																																																																																				0.582	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		13	1259	1	0	7.48243e-07	0.000442599	2.35076e-05	13	1259					T	77808649	G	T	77808649	2	4	75	1	0	0	0	0	0	0	0	1	2727	1048	37	3		3	CBX4	17	77808649	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3520381	77808649	3386561	382	9777											
RNF213	57674	broad.mit.edu	37	chr17	78338344	78338344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgagcacgtcttcttActagacaaggtgagtacttg	11	9	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2027L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3954					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11860-11862)ttA>ttG		ring finger protein 213							70	66	67					17																	78338344		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78338344A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11862A>G	17.37:g.78338344A>G						CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L	p.L3954L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		42	12005	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11862A>G	CCDS58606.1																																																																																				0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		17	188	0	0	0	9.7654e-05	0	17	188					G	78338344	A	G	78338344	2	3	75	1	0	0	0	0	0	0	0	1	13527	388	14	4		4	RNF213	17	78338344	Silent	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	529695	78338344	2856866	383	9778											
USP14	9097	broad.mit.edu	37	chr18	204644	204644	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggtgtcttttcgatcCaaattcaaggatctagaaga	8	6	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:204644C>A	ENST00000261601.7	+	13	1207	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S|USP14_ENST00000582707.1_Silent_p.S337S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	372	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTTCGATCCAAATTCAAGG	0.328																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(1114-1116)tcC>tcA		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							85	87	86					18																	204644		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:204644C>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1116C>A	18.37:g.204644C>A						USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S	p.S372S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			13	1207	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	372					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.1116C>A	CCDS32780.1																																																																																				0.328	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		10	545	1	0	0.00010058	0.00010058	0.00173709	10	545					A	204644	C	A	204644	2	1	75	1	0	0	0	0	0	0	0	1	17099	581	21	3		3	USP14	18	204644	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		204644	77872604	384	9779											
EPB41L3	23136	broad.mit.edu	37	chr18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatggtgctttcaaattgttCaaactaaataaaaaaaaata	4	4	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1069-1071)Gaa>Taa		erythrocyte membrane protein band 4.1-like 3							80	85	84					18																	5424355		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5424355C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1069G>T	18.37:g.5424355C>A	ENSP00000343158:p.Glu357*					EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*	p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			10	1409	-			357			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.1069G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	EPB41L3	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA		0.323	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	480	1	0	5.50884e-06	0.00010058	0.000142319	12	480					A	5424355	C	A	5424355	4	1	75	1	0	0	0	0	0	1	0	0	5172	835	29	3	2246	3	EPB41L3	18	5424355	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5219711	5424355	72652893	385	9780											
ANKRD12	23253	broad.mit.edu	37	chr18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcaagaacattggcaaatCaaacactgccatttagtgct	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000262126.4	+	11	6076	c.5836C>A	c.(5836-5838)Caa>Aaa	p.Q1946K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1946						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5767-5769)Caa>Aaa		ankyrin repeat domain 12							175	161	166					18																	9275594		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9275594C>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5836C>A	18.37:g.9275594C>A	ENSP00000262126:p.Gln1946Lys					ANKRD12_ENST00000262126.3_Missense_Mutation_p.Q1946K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	p.Q1923K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			10	6024	+			1946					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5767C>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535525	0.96460	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.70869	-0.52;-0.52	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.79123	2.44	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.952	D	0.85713	0.1320	10	0.87932	D	0	-16.6689	20.5211	0.99222	0.0:1.0:0.0:0.0	.	1923;1946	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1923;1946	ENSP00000372932:Q1923K;ENSP00000262126:Q1946K	ENSP00000262126:Q1946K	Q	+	1	0	ANKRD12	9265594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.861000	0.98227	0.650000	0.86243	CAA		0.343	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		14	994	1	0	2.31682e-05	0.000308642	0.000501203	14	994					A	9275594	C	A	9275594	3	1	75	1	0	0	0	0	1	0	0	0	640	827	29	3	5874	3	ANKRD12	18	9275594	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3851239	9275594	68801654	386	9781											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	296						9	296	---	---	---	---	-	12986929	TCC	-	12986927	6	5	75	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-HZ-A77Q-01A-11D-A36O-08	3711333	12986927	65090321	387	9782											
SMAD4	4089	broad.mit.edu	37	chr18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-													gatggatacgtggacccttcTggaggagatcgcttttgttt					rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tctggaggagat>tct	p.GGD358del	SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del|SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	358	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411																																						ENST00000342988.3																			42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)	p.0?(36)|p.G358*(4)|p.?(2)	pancreas(29)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1069-1080)tct>tc		SMAD family member 4																																				SO:0001651	inframe_deletion	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591908_48591916delTGGAGGAGA	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1071_1079delTGGAGGAGA	18.37:g.48591908_48591916delTGGAGGAGA	ENSP00000341551:p.Gly358_Asp360del					SMAD4_ENST00000588745.1_In_Frame_Del_p.SGGD261del|SMAD4_ENST00000398417.2_In_Frame_Del_p.SGGD357del	p.SGGD357del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1609_1617	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	357			MH2.		A8K405	In_Frame_Del	DEL	ENST00000342988.3	37	c.1071_1079delTGGAGGAGA	CCDS11950.1																																																																																				0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		32	304						32	304	---	---	---	---	-	48591916	TGGAGGAGA	-	48591908	7	5	75	1	0	1	0	1	0	0	0	0	14810	1567	55	0	1101	0	SMAD4	18	48591908	In_Frame_Del	DEL	TGGAGGAGA	TCGA-HZ-A77Q-01A-11D-A36O-08	35604981	48591908	29485340	388	9783											
DCC	1630	broad.mit.edu	37	chr18	50961541	50961541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagatggaggttattggcCagttgatactaatttgattg	13	3	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:50961541C>A	ENST00000442544.2	+	22	3807	c.3191C>A	c.(3190-3192)cCa>cAa	p.P1064Q	DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1064					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTATTGGCCAGTTGATACT	0.299																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3190-3192)cCa>cAa		deleted in colorectal carcinoma							218	220	219					18																	50961541		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50961541C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3191C>A	18.37:g.50961541C>A	ENSP00000389140:p.Pro1064Gln					DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	p.P1064Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	22	3807	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1064						Missense_Mutation	SNP	ENST00000442544.2	37	c.3191C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974234	0.34848	.	.	ENSG00000187323	ENST00000442544	T	0.51817	0.69	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	T	0.50905	0.1643	L	0.53249	1.67	0.42889	D	0.994199	P	0.45044	0.849	P	0.47206	0.541	T	0.43861	-0.9365	10	0.27082	T	0.32	-5.7624	16.0065	0.80367	0.0:1.0:0.0:0.0	.	1064	P43146	DCC_HUMAN	Q	1064	ENSP00000389140:P1064Q	ENSP00000389140:P1064Q	P	+	2	0	DCC	49215539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.011000	0.64011	2.593000	0.87608	0.655000	0.94253	CCA		0.299	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	946	1	0	9.70103e-10	0.000673444	3.65366e-08	11	946					A	50961541	C	A	50961541	3	1	75	1	0	0	0	0	1	0	0	0	4293	594	21	3	3277	3	DCC	18	50961541	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2369633	50961541	27115707	389	9784											
WDR7	23335	broad.mit.edu	37	chr18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttctcgaactttgtgCcgatgccgagaaacaacttg	12	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3688-3690)gCc>gTc		WD repeat domain 7							206	187	193					18																	54591315		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591315C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3689C>T	18.37:g.54591315C>T	ENSP00000254442:p.Ala1230Val					WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	p.A1230V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3900	+			1230					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3689C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362697	0.82353	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.67171	-0.25;1.47	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.42245	1.32	0.58432	D	0.999991	P;P	0.44627	0.839;0.751	P;B	0.46172	0.506;0.309	T	0.68108	-0.5496	10	0.52906	T	0.07	.	15.7022	0.77549	0.0:0.8624:0.1376:0.0	.	1197;1230	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1230;1197;555;1197	ENSP00000254442:A1230V;ENSP00000350187:A1197V	ENSP00000254442:A1230V	A	+	2	0	WDR7	52742313	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.489000	0.81451	1.256000	0.44068	0.591000	0.81541	GCC		0.438	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	550	0	0	0	0.000274275	0	6	550					T	54591315	C	T	54591315	3	4	75	1	0	0	0	0	1	0	0	0	17374	739	26	2	3771	2	WDR7	18	54591315	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3629774	54591315	23485933	390	9785											
SERPINB12	89777	broad.mit.edu	37	chr18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcctgtccttcccccGgttcaccctggaagacagct	11	15	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000269491.1	+	7	902	c.902G>T	c.(901-903)cGg>cTg	p.R301L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					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)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(961-963)cGg>cTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							180	177	178					18																	61233928		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.chr18:61233928G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.902G>T	18.37:g.61233928G>T	ENSP00000269491:p.Arg301Leu					SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L	p.R321L			Q96P63	SPB12_HUMAN			7	962	+			301					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.962G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304108	0.40795	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84223	-1.82;-1.82	5.81	1.97	0.26223	Serpin domain (3);	0.299003	0.29246	N	0.012717	D	0.87111	0.6096	M	0.91872	3.25	0.09310	N	0.999998	P;B	0.37781	0.608;0.182	B;B	0.38655	0.278;0.098	T	0.80381	-0.1406	10	0.87932	D	0	.	10.0287	0.42087	0.5897:0.0:0.4103:0.0	.	321;301	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	301;321	ENSP00000269491:R301L;ENSP00000372218:R321L	ENSP00000269491:R301L	R	+	2	0	SERPINB12	59384908	0.000000	0.05858	0.999000	0.59377	0.943000	0.58893	0.120000	0.15647	0.135000	0.18707	-0.290000	0.09829	CGG		0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		14	786	1	0	0.000566183	0.000566183	0.00706542	14	786					T	61233928	G	T	61233928	3	4	75	1	0	0	0	0	1	0	0	0	14149	1116	39	3	928	3	SERPINB12	18	61233928	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6642613	61233928	16843320	391	9786											
RTTN	25914	broad.mit.edu	37	chr18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttaaatcattgctttctGaatttctatcaaaagcagaa	4	7	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4543-4545)tCa>tAa		rotatin							66	63	64					18																	67742608		1796	4068	5864	SO:0001587	stop_gained	25914						binding	g.chr18:67742608G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4544C>A	18.37:g.67742608G>T	ENSP00000255674:p.Ser1515*					RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			33	4830	-		Esophageal squamous(42;0.129)	1515					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.4544C>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	41	8.763837	0.98945	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	3.73	0.42828	.	1.265960	0.05147	N	0.495368	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1648	0.48537	0.2339:0.0:0.7661:0.0	.	.	.	.	X	1515	.	ENSP00000255674:S1515X	S	-	2	0	RTTN	65893588	0.407000	0.25352	0.006000	0.13384	0.034000	0.12701	1.450000	0.35134	0.303000	0.22785	-1.164000	0.01763	TCA		0.254	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		13	631	1	0	0.000308642	0.000308642	0.00435582	13	631					T	67742608	G	T	67742608	4	4	75	1	0	0	0	0	0	1	0	0	13787	1294	45	3	2204	3	RTTN	18	67742608	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6508680	67742608	10334640	392	9787											
C18orf55	29090	broad.mit.edu	37	chr18	71816100	71816100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcacaggtcctcGgcaaagcgattgcttttgcc	12	11	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:71816100G>T	ENST00000169551.6	+	1	355	c.57G>T	c.(55-57)tcG>tcT	p.S19S	FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Silent_p.S19S	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	19					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ACAGGTCCTCGGCAAAGCGAT	0.458																																						ENST00000580087.1																			0											c.(55-57)tcG>tcT		translocase of inner mitochondrial membrane 21 homolog (yeast)							169	168	169					18																	71816100		2203	4300	6503	SO:0001819	synonymous_variant	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816100G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.57G>T	18.37:g.71816100G>T						TIMM21_ENST00000169551.6_Silent_p.S19S	p.S19S			Q9BVV7	TI21L_HUMAN			1	343	+			19					Q9P010	Silent	SNP	ENST00000169551.6	37	c.57G>T	CCDS12003.1																																																																																				0.458	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		10	850	1	0	0.000673444	0.000673444	0.00785517	10	850					T	71816100	G	T	71816100	2	4	75	1	0	0	0	0	0	0	0	1	1912	1103	39	3		3	C18orf55	18	71816100	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4073492	71816100	6261148	393	9788											
ZNF407	55628	broad.mit.edu	37	chr18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggccatgtacagttttGgtcgatttgactcctccata	10	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		GTACAGTTTTGGTCGATTTGA	0.423																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4060-4062)Ggt>Tgt		zinc finger protein 407							104	107	106					18																	72347035		1883	4119	6002	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347035G>T	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.4060G>T	18.37:g.72347035G>T	ENSP00000299687:p.Gly1354Cys					ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C	p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4060	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1354					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4060G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987151	0.53934	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13196	2.61;3.04	5.84	4.06	0.47325	.	0.195350	0.36519	N	0.002550	T	0.20007	0.0481	N	0.19112	0.55	0.32517	N	0.536824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.985	T	0.03060	-1.1077	10	0.59425	D	0.04	.	9.7588	0.40519	0.2094:0.0:0.7906:0.0	.	1354;1354;1354	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1354	ENSP00000299687:G1354C;ENSP00000310359:G1354C	ENSP00000299687:G1354C	G	+	1	0	ZNF407	70476023	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.301000	0.33447	2.754000	0.94517	0.655000	0.94253	GGT		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		11	548	1	0	9.31168e-06	0.000151284	0.000235695	11	548					T	72347035	G	T	72347035	3	4	75	1	0	0	0	0	1	0	0	0	17940	1348	47	3	4062	3	ZNF407	18	72347035	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	530935	72347035	5730213	394	9789											
EMR1	2015	broad.mit.edu	37	chr19	6913826	6913826	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaatatcactccggctgttCggacggaatacttaggtagg	11	9	1	0	rs376031317		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:6913826C>A	ENST00000312053.4	+	11	1322	c.1285C>A	c.(1285-1287)Cgg>Agg	p.R429R	EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381407.5_Silent_p.R288R|EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000381404.4_Silent_p.R377R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1285-1287)Cgg>Agg		egf-like module containing, mucin-like, hormone receptor-like 1		C		2,4404	4.2+/-10.8	0,2,2201	139	127	131		1285	2.5	0	19		131	0,8600		0,0,4300	no	coding-synonymous	EMR1	NM_001974.3		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		429/887	6913826	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913826C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>A	19.37:g.6913826C>A						EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000381407.5_Silent_p.R288R	p.R429R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			11	1322	+	all_hematologic(4;0.166)		429			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1285C>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			10	578	1	0	0.000673444	0.000673444	0.00785517	10	578					A	6913826	C	A	6913826	2	1	75	1	0	0	0	0	0	0	0	1	5122	875	31	3		3	EMR1	19	6913826	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		6913826	52215157	395	9790											
ZNF557	79230	broad.mit.edu	37	chr19	7082034	7082034	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctaagctgcatgtttttCgaaaagaacaatctagaaat	6	8	1	2	rs201136508		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82	81	82					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A						ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		7	368	1	0	0.000673444	0.000673444	0.00785517	7	368					A	7082034	C	A	7082034	2	1	75	1	0	0	0	0	0	0	0	1	18041	876	31	3		3	ZNF557	19	7082034	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	168208	7082034	52046949	396	9791											
ZNF358	140467	broad.mit.edu	37	chr19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgcggtgctccccGcccccgccagcccgccccgg	11	26	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(427-429)Gcc>Tcc		zinc finger protein 358							11	13	12					19																	7584555		2166	4242	6408	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584555G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.427G>T	19.37:g.7584555G>T	ENSP00000472305:p.Ala143Ser					ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	597	+			143					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.427G>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318275	0.60524	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.59	3.53	0.40419	.	.	.	.	.	T	0.06325	0.0163	N	0.17594	0.5	0.19300	N	0.999978	B	0.33940	0.433	B	0.31290	0.127	T	0.32798	-0.9893	9	0.49607	T	0.09	-17.385	12.6401	0.56705	0.0:0.1684:0.8316:0.0	.	143	Q9NW07	ZN358_HUMAN	S	143	ENSP00000377873:A143S	ENSP00000354703:A143S	A	+	1	0	ZNF358	7490555	0.567000	0.26626	0.366000	0.25914	0.772000	0.43724	2.186000	0.42593	1.041000	0.40125	0.462000	0.41574	GCC		0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			4	125	1	0	2.56e-06	0.00024832	7.3418e-05	4	125					T	7584555	G	T	7584555	3	4	75	1	0	0	0	0	1	0	0	0	17920	1087	38	3	429	3	ZNF358	19	7584555	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	502521	7584555	51544428	397	9792											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		8	1006	0	0	0	0.000442599	0	8	1006					C	12155673	A	C	12155673	3	2	75	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	4571118	12155673	46973310	398	9793											
TMEM38A	79041	broad.mit.edu	37	chr19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgccccgtgctgtttggttCggcctgcgggggtgaccatc	15	13	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(751-753)tCg>tAg		transmembrane protein 38A							158	164	162					19																	16799034		2203	4300	6503	SO:0001587	stop_gained	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799034C>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.752C>A	19.37:g.16799034C>A	ENSP00000187762:p.Ser251*						p.S251*	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	843	+			251					A8K9P9	Nonsense_Mutation	SNP	ENST00000187762.2	37	c.752C>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198085	0.38806	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.12	1.93	0.25924	.	0.520628	0.22109	N	0.064515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.1108	7.7281	0.28771	0.161:0.7511:0.0:0.0879	.	.	.	.	X	251	.	ENSP00000187762:S251X	S	+	2	0	TMEM38A	16660034	0.085000	0.21516	0.001000	0.08648	0.069000	0.16628	2.684000	0.46951	0.227000	0.20999	0.462000	0.41574	TCG		0.642	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		13	961	1	0	0.000422831	0.000422831	0.00556767	13	961					A	16799034	C	A	16799034	4	1	75	1	0	0	0	0	0	1	0	0	16211	893	31	3	774	3	TMEM38A	19	16799034	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4643361	16799034	42329949	399	9794											
MYO9B	4650	broad.mit.edu	37	chr19	17213368	17213368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggccctgtgctggagGtgagcggggaagctggtcgg	21	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000594824.1	+	2	987		c.e2+1		MYO9B_ENST00000595618.1_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e2+1		myosin IXB							8	9	9					19																	17213368		1987	4148	6135	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213368G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.840+1G>A	19.37:g.17213368G>A						MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	992	+								O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	37			.	.	.	.	.	.	.	.	.	.	G	21.1	4.091562	0.76756	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9365	0.89013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17074368	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.459000	0.97638	2.480000	0.83734	0.655000	0.94253	.		0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	11	42	0	0	0	0.000673444	0	11	42					A	17213368	G	A	17213368	5	1	75	1	0	0	0	0	0	0	1	0	10126	1275	44	2	843	2	MYO9B	19	17213368	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	414334	17213368	41915615	400	9795											
ELL	8178	broad.mit.edu	37	chr19	18556040	18556040	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagagacactcacctttttGatttttcgatattcctgcaa	5	10	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Silent_p.I448I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1741-1743)atC>atA		elongation factor RNA polymerase II							214	224	221					19																	18556040		2203	4300	6503	SO:0001819	synonymous_variant	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18556040G>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1743C>A	19.37:g.18556040G>T							p.I581I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	11	1814	-			581						Silent	SNP	ENST00000262809.4	37	c.1743C>A	CCDS12380.1																																																																																				0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		15	1125	1	0	0.00010058	0.00010058	0.00173709	15	1125					T	18556040	G	T	18556040	2	4	75	1	0	0	0	0	0	0	0	1	5080	1280	45	3		3	ELL	19	18556040	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1342672	18556040	40572943	401	9796											
ZNF14	7561	broad.mit.edu	37	chr19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatcgtttacattcatatGgtttttctccaatatgagtt	5	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1084-1086)cCa>cAa		zinc finger protein 14							81	81	81					19																	19823005		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823005G>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1085C>A	19.37:g.19823005G>T	ENSP00000340514:p.Pro362Gln						p.P362Q	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1223	-		Renal(1328;0.0474)	362					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1085C>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	ZNF14	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		8	416	1	0	0.000274275	0.000274275	0.0039602	8	416					T	19823005	G	T	19823005	3	4	75	1	0	0	0	0	1	0	0	0	17781	1348	47	3	847	3	ZNF14	19	19823005	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1266965	19823005	39305978	402	9797											
ZNF431	170959	broad.mit.edu	37	chr19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagcttttaacCagtcttcaacccttagtaca	6	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(979-981)Cag>Aag		zinc finger protein 431							59	63	61					19																	21366085		2203	4299	6502	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366085C>A	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.979C>A	19.37:g.21366085C>A	ENSP00000308578:p.Gln327Lys					ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.Q327K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1123	+			327					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.979C>A	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.500	-0.871450	0.02570	.	.	ENSG00000196705	ENST00000311048	T	0.35421	1.31	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	N	0.16266	0.395	0.09310	N	1	B	0.22851	0.076	B	0.23574	0.047	T	0.22977	-1.0201	9	0.32370	T	0.25	.	6.2054	0.20600	0.0:0.6793:0.3206:0.0	.	327	Q8TF32	ZN431_HUMAN	K	327	ENSP00000308578:Q327K	ENSP00000308578:Q327K	Q	+	1	0	ZNF431	21157925	0.000000	0.05858	0.456000	0.27044	0.446000	0.32137	-3.026000	0.00640	0.446000	0.26666	0.449000	0.29647	CAG		0.403	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		9	356	1	0	7.48243e-07	0.000442599	2.35076e-05	9	356					A	21366085	C	A	21366085	3	1	75	1	0	0	0	0	1	0	0	0	17958	595	21	3	997	3	ZNF431	19	21366085	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1543080	21366085	37762898	403	9798											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					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.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47	50	49					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	470	0	0	0	8.12818e-05	0	6	470					C	22155223	T	C	22155223	2	2	75	1	0	0	0	0	0	0	0	1	17819	1490	52	4		4	ZNF208	19	22155223	Silent	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	789138	22155223	36973760	404	9799											
ZNF99	7652	broad.mit.edu	37	chr19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgctaaaagctttgcTgcattcttcacatttgtagg	7	7	2	0	rs386808002|rs188302239	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22941336T>C	ENST00000596209.1	-	4	1465	c.1375A>G	c.(1375-1377)Agc>Ggc	p.S459G	ZNF99_ENST00000397104.3_Missense_Mutation_p.S368G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCTGCATTCTTCA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1102-1104)Agc>Ggc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941336T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1375A>G	19.37:g.22941336T>C	ENSP00000472969:p.Ser459Gly					ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G	p.S368G							5	1101	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1102A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.143342	0.00332	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.28	0.0685	0.14370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.00514	-1.41	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	9	0.02654	T	1	.	3.8246	0.08849	0.0:0.5767:0.2474:0.1759	.	368	A8MXY4	ZNF99_HUMAN	G	368	ENSP00000380293:S368G	ENSP00000380293:S368G	S	-	1	0	ZNF99	22733176	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.289000	0.18957	-0.133000	0.11537	-0.751000	0.03497	AGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	293	0	0	0	3.59834e-05	0	5	293					C	22941336	T	C	22941336	3	2	75	1	0	0	0	0	1	0	0	0	18257	1580	55	4	2022	4	ZNF99	19	22941336	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	786113	22941336	36187647	405	9800											
ZNF681	148213	broad.mit.edu	37	chr19	23927139	23927139	+	Missense_Mutation	SNP	T	T	G													tctagtaaggtgtgaggactTgttaaaagctttgccacatt					rs1852431		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927139T>G	ENST00000402377.3	-	4	1354	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	405					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTTGTTAAAAGCT	0.403																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1213-1215)Aag>Cag		zinc finger protein 681							69	73	72					19																	23927139		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927139T>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1213A>C	19.37:g.23927139T>G	ENSP00000384000:p.Lys405Gln					ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	p.K405Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1354	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	405					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1213A>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.720447	0.00092	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07444	3.19;3.19	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.02275	-0.615	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.33033	-0.9884	9	0.02654	T	1	.	5.6438	0.17579	0.151:0.0:0.5623:0.2867	rs1852431	405	Q96N22	ZN681_HUMAN	Q	405;336	ENSP00000384000:K405Q;ENSP00000378783:K336Q	ENSP00000378783:K336Q	K	-	1	0	ZNF681	23718979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.510000	0.00063	-2.559000	0.00474	-2.453000	0.00207	AAG		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		8	392	0	0	0	0.000422831	0	8	392					G	23927139	T	G	23927139	3	3	75	1	0	0	0	0	1	0	0	0	18141	1821	63	4	728	4	ZNF681	19	23927139	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	985803	23927139	35201844	406	9801	63	2									
ZNF681	148213	broad.mit.edu	37	chr19	23927146	23927146	+	Silent	SNP	A	A	G													aggtgtgaggacttgttaaaAgctttgccacattcttcaca							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927146A>G	ENST00000402377.3	-	4	1347	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1204-1206)gcT>gcC		zinc finger protein 681							69	74	72					19																	23927146		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927146A>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1206T>C	19.37:g.23927146A>G						ZNF681_ENST00000395385.3_Silent_p.A333A	p.A402A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1347	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	402					B3KVF7	Silent	SNP	ENST00000402377.3	37	c.1206T>C	CCDS12414.2																																																																																				0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		7	416	0	0	0	0.000151284	0	7	416					G	23927146	A	G	23927146	2	3	75	1	0	0	0	0	0	0	0	1	18141	59	3	4		4	ZNF681	19	23927146	Silent	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	7	23927146	35201837	407	9802	63	2									
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4																			0											c.(1081-1083)caG>caA		zinc finger protein 254							57	58	58					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A						ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		6	412	0	0	0	3.59834e-05	0	6	412					A	24309885	G	A	24309885	2	1	75	1	0	0	0	0	0	0	0	1	17851	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	382739	24309885	34819098	408	9803											
TSHZ3	57616	broad.mit.edu	37	chr19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccagggaagctttcttcCgagtggcagggatgattttg	14	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTTTCTTCCGAGTGGCAGG	0.527																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(961-963)cGg>cTg		teashirt zinc finger homeobox 3							111	114	113					19																	31769737		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769737C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.962G>T	19.37:g.31769737C>A	ENSP00000240587:p.Arg321Leu						p.R321L	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1289	-	Esophageal squamous(110;0.226)		321					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.962G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817102	0.50633	.	.	ENSG00000121297	ENST00000240587	T	0.12569	2.67	5.33	5.33	0.75918	.	0.120599	0.52532	D	0.000061	T	0.16171	0.0389	L	0.40543	1.245	0.58432	D	0.999998	P	0.42757	0.789	B	0.40101	0.319	T	0.01195	-1.1422	10	0.62326	D	0.03	-26.965	19.0278	0.92939	0.0:1.0:0.0:0.0	.	321	Q63HK5	TSH3_HUMAN	L	321	ENSP00000240587:R321L	ENSP00000240587:R321L	R	-	2	0	TSHZ3	36461577	1.000000	0.71417	0.967000	0.41034	0.394000	0.30568	7.487000	0.81328	2.479000	0.83701	0.563000	0.77884	CGG		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	409	1	0	0.000442599	0.000442599	0.00556767	7	409					A	31769737	C	A	31769737	3	1	75	1	0	0	0	0	1	0	0	0	16678	652	23	3	2287	3	TSHZ3	19	31769737	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7459852	31769737	27359246	409	9804											
ZNF181	339318	broad.mit.edu	37	chr19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgggaaaacaaggaattatCaacaaagaaggataattatg	9	3	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000492450.1	+	4	352	c.263C>A	c.(262-264)tCa>tAa	p.S88*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAATTATCAACAAAGAAG	0.264																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(394-396)tCa>tAa		zinc finger protein 181							72	86	82					19																	35231549		2170	4271	6441	SO:0001587	stop_gained	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231549C>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.263C>A	19.37:g.35231549C>A	ENSP00000420727:p.Ser88*					ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S88*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S87*	p.S132*			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	563	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		88					B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	37	c.395C>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176182	0.57692	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	3.42	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.7581	0.08593	0.2346:0.6242:0.0:0.1412	.	.	.	.	X	132;87;88;87	.	ENSP00000376065:S132X	S	+	2	0	ZNF181	39923389	0.000000	0.05858	0.079000	0.20413	0.847000	0.48162	0.129000	0.15830	0.718000	0.32166	0.491000	0.48974	TCA		0.264	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		12	602	1	0	3.27435e-08	0.000219431	1.13729e-06	12	602					A	35231549	C	A	35231549	4	1	75	1	0	0	0	0	0	1	0	0	17802	838	29	3	277	3	ZNF181	19	35231549	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3461812	35231549	23897434	410	9805											
ZFP14	57677	broad.mit.edu	37	chr19	36831324	36831324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaatactctgatgttgGgtaagttgtgagagcagtct	14	4	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:36831324G>A	ENST00000270001.7	-	5	1519	c.1404C>T	c.(1402-1404)acC>acT	p.T468T		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	468					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.T468T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTGATGTTGGGTAAGTTGTG	0.373																																						ENST00000270001.7																			1	Substitution - coding silent(1)	p.T468T(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)acC>acT		ZFP14 zinc finger protein							103	97	99					19																	36831324		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831324G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1404C>T	19.37:g.36831324G>A							p.T468T	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1519	-	Esophageal squamous(110;0.162)		468					A7MD23	Silent	SNP	ENST00000270001.7	37	c.1404C>T	CCDS33002.1																																																																																				0.373	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		7	427	0	0	0	0.000274275	0	7	427					A	36831324	G	A	36831324	2	1	75	1	0	0	0	0	0	0	0	1	17692	1219	43	2		2	ZFP14	19	36831324	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1599775	36831324	22297659	411	9806											
SUPT5H	6829	broad.mit.edu	37	chr19	39963541	39963541	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgaactcatcggccagacCgtgcgcatctcccaggggcc	11	16	2	1	rs146582409	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:39963541C>A	ENST00000599117.1	+	23	2494	c.2127C>A	c.(2125-2127)acC>acA	p.T709T	SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T|SUPT5H_ENST00000359191.6_Silent_p.T705T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	709	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGCCAGACCGTGCGCATCT	0.677																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2125-2127)acC>acA		suppressor of Ty 5 homolog (S. cerevisiae)							47	47	47					19																	39963541		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963541C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2127C>A	19.37:g.39963541C>A						SUPT5H_ENST00000359191.6_Silent_p.T705T|SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T	p.T709T			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2494	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		709			KOW 5.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2127C>A	CCDS12536.1																																																																																				0.677	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		5	180	1	0	8.12818e-05	8.12818e-05	0.00148589	5	180					A	39963541	C	A	39963541	2	1	75	1	0	0	0	0	0	0	0	1	15451	639	23	3		3	SUPT5H	19	39963541	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3132217	39963541	19165442	412	9807											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	735	0	0	0	8.12818e-05	0	6	735					C	40580666	T	C	40580666	2	2	75	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	617125	40580666	18548317	413	9808											
PSG3	5671	broad.mit.edu	37	chr19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtctcaggatcacaggtTaagctcacagcctccatgtc	10	12	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(499-501)ttA>ttC		pregnancy specific beta-1-glycoprotein 3							206	201	203					19																	43237144		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237144T>G		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.501A>C	19.37:g.43237144T>G	ENSP00000332215:p.Leu167Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	685	-		Prostate(69;0.00682)	167			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.501A>C	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	PSG3	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		29	895	0	0	0	0.000409698	0	29	895					G	43237144	T	G	43237144	3	3	75	1	0	0	0	0	1	0	0	0	12703	1751	61	4	801	4	PSG3	19	43237144	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	2656478	43237144	15891839	414	9809											
ZNF221	7638	broad.mit.edu	37	chr19	44469186	44469186	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagaggaagctgtacCgagatgtgatgctagagaac	13	9	0	4	rs550036064		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(166-168)Cga>Aga		zinc finger protein 221							226	219	221					19																	44469186		2203	4300	6503	SO:0001819	synonymous_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44469186C>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.166C>A	19.37:g.44469186C>A						ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	p.R56R	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			4	494	+		Prostate(69;0.0352)	56			KRAB.		B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	c.166C>A	CCDS12633.1																																																																																				0.522	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			8	832	1	0	0.000673444	0.000673444	0.00785517	8	832					A	44469186	C	A	44469186	2	1	75	1	0	0	0	0	0	0	0	1	17828	644	23	3		3	ZNF221	19	44469186	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1232042	44469186	14659797	415	9810											
RTN2	6253	broad.mit.edu	37	chr19	45997638	45997638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggggagtcaagacctcGggcgatgagggctgagcaag	18	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.P200P|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(598-600)ccC>ccT		reticulon 2							56	50	52					19																	45997638		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45997638G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.600C>T	19.37:g.45997638G>A						RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	p.P200P	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	835	-		Ovarian(192;0.051)|all_neural(266;0.112)	200					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.600C>T	CCDS12665.1																																																																																				0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		31	193	0	0	0	0.000339439	0	31	193					A	45997638	G	A	45997638	2	1	75	1	0	0	0	0	0	0	0	1	13776	1103	39	1		1	RTN2	19	45997638	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1528452	45997638	13131345	416	9811											
KLK13	26085	broad.mit.edu	37	chr19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgctgggtttcatattttCggattgtttcacggatccac	10	9	2	0	rs368127123		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512																																						ENST00000595793.1																			1	Substitution - Missense(1)	p.R263L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(787-789)cGa>cTa		kallikrein-related peptidase 13							251	236	241					19																	51559890		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559890C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.788G>T	19.37:g.51559890C>A	ENSP00000470555:p.Arg263Leu					KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	p.R263L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	830	-		all_neural(266;0.026)	263			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.788G>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111511	0.37242	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.93366	-3.21	3.78	-3.39	0.04868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.340470	0.05170	N	0.499377	D	0.92061	0.7484	L	0.47016	1.485	0.09310	N	1	P;D;P	0.56287	0.678;0.975;0.671	B;P;B	0.50659	0.136;0.647;0.314	D	0.85149	0.0985	10	0.72032	D	0.01	.	8.6349	0.33941	0.0:0.3664:0.0:0.6336	.	111;190;263	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	263;111	ENSP00000334079:R111L	ENSP00000156476:R263L	R	-	2	0	KLK13	56251702	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.309000	0.08145	-0.518000	0.06452	-0.781000	0.03364	CGA		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		10	913	1	0	0.000442599	0.000442599	0.00556767	10	913					A	51559890	C	A	51559890	3	1	75	1	0	0	0	0	1	0	0	0	8431	884	31	3	49	3	KLK13	19	51559890	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5562252	51559890	7569093	417	9812											
ZNF613	79898	broad.mit.edu	37	chr19	52447796	52447796	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaagaagtctcgcctcatCtatcatcagagagttcacac	6	13	7	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(658-660)atC>atA		zinc finger protein 613							160	165	163					19																	52447796		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447796C>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.660C>A	19.37:g.52447796C>A						ZNF613_ENST00000391794.4_Silent_p.I184I	p.I220I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1339	+		all_neural(266;0.117)	220					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.660C>A	CCDS33089.1																																																																																				0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		10	903	1	0	3.09899e-07	0.000274275	9.98704e-06	10	903					A	52447796	C	A	52447796	2	1	75	1	0	0	0	0	0	0	0	1	18091	903	32	3		3	ZNF613	19	52447796	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	887906	52447796	6681187	418	9813											
ZNF610	162963	broad.mit.edu	37	chr19	52857575	52857575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcccttgattctgcaaagtCaagttaaaatagtaaaaaat	6	6	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52857575C>A	ENST00000403906.3	+	5	718	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCTGCAAAGTCAAGTTAAAAT	0.378																																						ENST00000403906.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(262-264)Caa>Aaa		zinc finger protein 610							81	84	83					19																	52857575		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857575C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.262C>A	19.37:g.52857575C>A	ENSP00000383922:p.Gln88Lys					ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron	p.Q88K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	718	+			88			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.262C>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056483	0.01965	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.04809	3.55;3.55	1.21	-2.43	0.06522	Krueppel-associated box (1);	.	.	.	.	T	0.01976	0.0062	N	0.04820	-0.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	9	0.20519	T	0.43	.	3.921	0.09244	0.2004:0.5011:0.2985:0.0	.	88	Q8N9Z0	ZN610_HUMAN	K	88	ENSP00000383922:Q88K;ENSP00000327597:Q88K	ENSP00000327597:Q88K	Q	+	1	0	ZNF610	57549387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.922000	0.04004	-0.998000	0.03446	-1.241000	0.01538	CAA		0.378	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		8	444	1	0	1.12685e-05	0.000274275	0.000275198	8	444					A	52857575	C	A	52857575	3	1	75	1	0	0	0	0	1	0	0	0	18089	827	29	3	272	3	ZNF610	19	52857575	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	409779	52857575	6271408	419	9814											
ZNF845	91664	broad.mit.edu	37	chr19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccttcagtcagatGtcatcccttgtataccatcg	8	12	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53855197G>A	ENST00000595091.1	+	5	1488	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1267-1269)atG>atA		zinc finger protein 845							45	41	42					19																	53855197		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855197G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1269G>A	19.37:g.53855197G>A	ENSP00000470005:p.Met423Ile					ZNF845_ENST00000595091.1_Missense_Mutation_p.M423I	p.M423I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1386	+			423						Missense_Mutation	SNP	ENST00000595091.1	37	c.1269G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.889779	0.02511	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.34275	1.37	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.05487	-0.04	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.08249	-1.0731	9	0.34782	T	0.22	.	2.3006	0.04161	0.1137:0.3445:0.3108:0.231	.	423	Q96IR2	ZN845_HUMAN	I	423	ENSP00000388311:M423I	ENSP00000412086:M423I	M	+	3	0	ZNF845	58547009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.502000	0.00035	-2.361000	0.00609	-0.718000	0.03613	ATG		0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	561	0	0	0	0.000673444	0	8	561					A	53855197	G	A	53855197	3	1	75	1	0	0	0	0	1	0	0	0	18244	1377	48	2	1279	2	ZNF845	19	53855197	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	997622	53855197	5273786	420	9815											
ZNF547	284306	broad.mit.edu	37	chr19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagagattgctgtacCgtgatgtgatgctggagaat	14	6	1	4	rs539742345		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(109-111)Cgt>Agt		zinc finger protein 547							419	380	393					19																	57883234		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883234C>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.109C>A	19.37:g.57883234C>A	ENSP00000282282:p.Arg37Ser					AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	259	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	37			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.109C>A	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496785	0.12762	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.02656	4.21	2.01	0.202	0.15190	Krueppel-associated box (4);	.	.	.	.	T	0.06096	0.0158	M	0.92026	3.265	0.09310	N	1	B;B	0.30634	0.288;0.009	B;B	0.28385	0.089;0.015	T	0.21895	-1.0232	9	0.48119	T	0.1	.	3.8214	0.08837	0.0:0.6244:0.0:0.3756	.	37;37	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	S	37	ENSP00000282282:R37S	ENSP00000282282:R37S	R	+	1	0	ZNF547	62575046	0.000000	0.05858	0.039000	0.18376	0.709000	0.40893	-1.715000	0.01880	0.084000	0.17077	0.561000	0.74099	CGT		0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		10	1211	1	0	0.000157383	0.000157383	0.00254253	10	1211					A	57883234	C	A	57883234	3	1	75	1	0	0	0	0	1	0	0	0	18032	652	23	3	115	3	ZNF547	19	57883234	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4028037	57883234	1245749	421	9816											
PTPRA	5786	broad.mit.edu	37	chr20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaagggcatgatcagcatCatcgccgccgtgcagaagca	13	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2107-2109)atC>atG		protein tyrosine phosphatase, receptor type, A							100	91	94					20																	3016525		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3016525C>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2109C>G	20.37:g.3016525C>G	ENSP00000216877:p.Ile703Met					PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M	p.I703M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			21	2509	+			712			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2109C>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	PTPRA	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			60	273	0	0	0	0.000781405	0	60	273					G	3016525	C	G	3016525	3	3	75	1	0	0	0	0	1	0	0	0	12845	816	29	5	2210	5	PTPRA	20	3016525	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		3016525	60008995	422	9817											
ANKRD5	63926	broad.mit.edu	37	chr20	10025144	10025144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtgaatgcatttgacaacGacaggcatcacgctgctcat	9	10	2	2	rs139520957		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:10025144G>T	ENST00000378380.3	+	4	978	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	217							calcium ion binding (GO:0005509)										ATTTGACAACGACAGGCATCA	0.413																																						ENST00000378380.3																			0											c.(649-651)Gac>Tac		ankyrin repeat and EF-hand domain containing 1							228	205	213					20																	10025144		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10025144G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.649G>T	20.37:g.10025144G>T	ENSP00000367631:p.Asp217Tyr					ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	p.D217Y	NM_198798.1	NP_942093.1					4	978	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.649G>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349970	0.41599	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67698	-0.28;-0.28	5.34	4.39	0.52855	Ankyrin repeat-containing domain (3);	0.544786	0.22457	N	0.059809	T	0.66167	0.2762	L	0.39692	1.235	0.29151	N	0.878367	P	0.49253	0.921	P	0.49887	0.625	T	0.64445	-0.6406	10	0.48119	T	0.1	-1.6673	14.3094	0.66405	0.0717:0.0:0.9283:0.0	.	217	Q9NU02	ANKR5_HUMAN	Y	217	ENSP00000367644:D217Y;ENSP00000367631:D217Y	ENSP00000367631:D217Y	D	+	1	0	ANKRD5	9973144	0.999000	0.42202	0.089000	0.20774	0.105000	0.19272	4.505000	0.60421	1.395000	0.46643	0.655000	0.94253	GAC		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		12	675	1	0	0.000219431	0.000219431	0.00342116	12	675					T	10025144	G	T	10025144	3	4	75	1	0	0	0	0	1	0	0	0	676	1058	37	3	659	3	ANKRD5	20	10025144	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7008619	10025144	53000376	423	9818											
XRN2	22803	broad.mit.edu	37	chr20	21327079	21327079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctggctggaagcagcGgtactacaagaacaaatttg	13	7	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:21327079G>T	ENST00000377191.3	+	17	1651	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	XRN2_ENST00000539513.1_Missense_Mutation_p.R465L|XRN2_ENST00000430571.2_Missense_Mutation_p.R443L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	519					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAAGCAGCGGTACTACAAG	0.438																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(1555-1557)cGg>cTg		5'-3' exoribonuclease 2							163	158	159					20																	21327079		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21327079G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1556G>T	20.37:g.21327079G>T	ENSP00000366396:p.Arg519Leu					XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	p.R519L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			17	1651	+			519					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1556G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471937	0.96274	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.24908	1.83;1.83;1.83	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64778	-0.6327	10	0.87932	D	0	-12.6741	20.3495	0.98807	0.0:0.0:1.0:0.0	.	519	Q9H0D6	XRN2_HUMAN	L	519;443;465	ENSP00000366396:R519L;ENSP00000413548:R443L;ENSP00000441113:R465L	ENSP00000366396:R519L	R	+	2	0	XRN2	21275079	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	9.444000	0.97578	2.814000	0.96858	0.591000	0.81541	CGG		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		7	522	1	0	0.000442599	0.000442599	0.00556767	7	522					T	21327079	G	T	21327079	3	4	75	1	0	0	0	0	1	0	0	0	17514	1116	39	3	1622	3	XRN2	20	21327079	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11301935	21327079	41698441	424	9819											
DEFB119	245932	broad.mit.edu	37	chr20	29976964	29976964	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcaccgtttacgatttCggcagcgtatgatgctgtct	10	11	1	1	rs181386606		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.R44Q|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20317	0.001		0.0	False		,,,				2504	0.0					ENST00000376315.2																			1	Substitution - Missense(1)	p.R44Q(1)	large_intestine(1)	large_intestine(2)|lung(1)|prostate(1)	4						c.(130-132)cGa>cAa		defensin, beta 119		C	,GLN/ARG,	0,4406		0,0,2203	210	179	190		,131,	-7.4	0	20		190	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,44/89,	29976964	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976964C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1261G>A	20.37:g.29976964C>T						DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	p.R44Q	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	130	-	all_hematologic(12;0.158)		50					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.131G>A	CCDS13178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.890815	0.52014	0.0	1.16E-4	ENSG00000180483	ENST00000376315	T	0.12147	2.71	3.71	-7.43	0.01383	.	4.895910	0.00541	N	0.000227	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.17684	-1.0361	9	0.38643	T	0.18	8.8927	1.4233	0.02317	0.1537:0.2175:0.2377:0.3912	.	44	Q8N690-2	.	Q	44	ENSP00000365492:R44Q	ENSP00000365492:R44Q	R	-	2	0	DEFB119	29440625	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-2.121000	0.01322	-3.536000	0.00145	-0.251000	0.11542	CGA		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		12	492	0	0	0	0.00010058	0	12	492					T	29976964	C	T	29976964	1	4	75	0	1	0	0	0	0	0	0	0	4422	884	31	1		1	DEFB119	20	29976964	Intron	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8649885	29976964	33048556	425	9820											
C20orf186	149954	broad.mit.edu	37	chr20	31671235	31671235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccccagtatataccaacGgcaaaaaacttgatggtatt	6	12	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:31671235G>T	ENST00000375483.3	+	3	232	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	78						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATATACCAACGGCAAAAAACT	0.478																																						ENST00000375483.3																			0											c.(232-234)Ggc>Tgc		BPI fold containing family B, member 4							89	84	86					20																	31671235		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671235G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.232G>T	20.37:g.31671235G>T	ENSP00000364632:p.Gly78Cys						p.G78C	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	232	+			78					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.232G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	g	10.59	1.391826	0.25118	.	.	ENSG00000186191	ENST00000375483	T	0.02085	4.46	3.02	3.02	0.34903	.	0.000000	0.37577	U	0.002038	T	0.06005	0.0156	L	0.32530	0.975	0.30669	N	0.753545	D	0.89917	1.0	D	0.87578	0.998	T	0.02238	-1.1190	10	0.87932	D	0	-11.4942	9.6335	0.39793	0.0:0.0:1.0:0.0	.	78	P59827	BPIB4_HUMAN	C	78	ENSP00000364632:G78C	ENSP00000364632:G78C	G	+	1	0	BPIFB4	31134896	0.996000	0.38824	0.922000	0.36590	0.015000	0.08874	2.891000	0.48617	1.675000	0.50919	0.457000	0.33378	GGC		0.478	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		14	647	1	0	9.31168e-06	0.000151284	0.000235695	14	647					T	31671235	G	T	31671235	3	4	75	1	0	0	0	0	1	0	0	0	2105	1116	39	3	242	3	C20orf186	20	31671235	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1694271	31671235	31354285	426	9821											
NCOA6	23054	broad.mit.edu	37	chr20	33329665	33329665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaagtttgttaggatcCgaaggctgcccatccttttt	11	9	0	0	rs201911903		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:33329665C>A	ENST00000374796.2	-	12	6965	c.4395G>T	c.(4393-4395)tcG>tcT	p.S1465S	NCOA6_ENST00000359003.2_Silent_p.S1465S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					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)			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						TGTTAGGATCCGAAGGCTGCC	0.443																																						ENST00000374796.2																			0				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						c.(4393-4395)tcG>tcT		nuclear receptor coactivator 6							106	98	101					20																	33329665		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.chr20:33329665C>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.4395G>T	20.37:g.33329665C>A						NCOA6_ENST00000359003.2_Silent_p.S1465S	p.S1465S			Q14686	NCOA6_HUMAN			12	6965	-			1465					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.4395G>T	CCDS13241.1																																																																																				0.443	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	566	1	0	0.000673444	0.000673444	0.00785517	8	566					A	33329665	C	A	33329665	2	1	75	1	0	0	0	0	0	0	0	1	10275	639	23	3		3	NCOA6	20	33329665	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1658430	33329665	29695855	427	9822											
SAMHD1	25939	broad.mit.edu	37	chr20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatacttgaatagattacGgtattcaatttgttttaaaa	5	5	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1351-1353)Cgt>Agt		SAM domain and HD domain 1							191	183	185					20																	35533826		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533826G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1351C>A	20.37:g.35533826G>T	ENSP00000262878:p.Arg451Ser						p.R451S	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			12	1550	-		Myeloproliferative disorder(115;0.00878)	451					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1351C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	SAMHD1	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT		0.348	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		13	749	1	0	0.000219431	0.000219431	0.00342116	13	749					T	35533826	G	T	35533826	3	4	75	1	0	0	0	0	1	0	0	0	13878	1116	39	3	549	3	SAMHD1	20	35533826	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2204161	35533826	27491694	428	9823											
ZNFX1	57169	broad.mit.edu	37	chr20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgtttggaattctgccagcGaacaaacttcagtggttttg	10	8	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1321-1323)Cgc>Agc		zinc finger, NFX1-type containing 1							159	154	156					20																	47887028		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887028G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1321C>A	20.37:g.47887028G>T	ENSP00000379412:p.Arg441Ser					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1567	-			441					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1321C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160937	0.57368	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87256	-1.97;-2.23;-2.23;-0.93;-1.64	5.85	5.85	0.93711	.	0.215288	0.48286	D	0.000200	D	0.91855	0.7422	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.65140	0.932	D	0.88693	0.3210	10	0.20519	T	0.43	-23.2852	18.7272	0.91718	0.0:0.0:1.0:0.0	.	441	Q9P2E3	ZNFX1_HUMAN	S	441;441;441;441;441;245	ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S	ENSP00000360809:R441S	R	-	1	0	ZNFX1	47320435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.651000	0.74372	2.773000	0.95371	0.655000	0.94253	CGC		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	706	1	0	2.17888e-05	0.000442599	0.00047966	10	706					T	47887028	G	T	47887028	3	4	75	1	0	0	0	0	1	0	0	0	18258	1058	37	3	4483	3	ZNFX1	20	47887028	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12353202	47887028	15138492	429	9824											
ZNF217	7764	broad.mit.edu	37	chr20	52193233	52193233	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caattgtgaagagcccccacGgataaatttaaaggtttttc	8	8	0	2	rs377601068		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	690					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGCCCCCACGGATAAATTTA	0.428																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2068-2070)tcC>tcA		zinc finger protein 217							90	99	96					20																	52193233		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193233G>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2070C>A	20.37:g.52193233G>T						ZNF217_ENST00000302342.3_Silent_p.S690S	p.S690S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2495	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		690					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2070C>A	CCDS13443.1																																																																																				0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		11	595	1	0	0.00010058	0.00010058	0.00173709	11	595					T	52193233	G	T	52193233	2	4	75	1	0	0	0	0	0	0	0	1	17825	1103	39	3		3	ZNF217	20	52193233	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4306205	52193233	10832287	430	9825											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatcaaaatgctttctgtCggttttgttcacacacttgc	6	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.3	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	550	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1648-1650)Gac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 1							101	95	97					21																	28212612		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212612C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1648G>T	21.37:g.28212612C>A	ENSP00000284984:p.Asp550Tyr						p.D550Y	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	2102	-		Breast(209;0.000962)	550			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1648G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649884	0.87958	.	.	ENSG00000154734	ENST00000284984	T	0.63744	-0.06	5.13	5.13	0.70059	.	.	.	.	.	T	0.73489	0.3593	L	0.58302	1.8	0.80722	D	1	D	0.55605	0.972	P	0.57152	0.814	T	0.75534	-0.3284	9	0.72032	D	0.01	.	19.128	0.93393	0.0:1.0:0.0:0.0	.	550	Q9UHI8	ATS1_HUMAN	Y	550	ENSP00000284984:D550Y	ENSP00000284984:D550Y	D	-	1	0	ADAMTS1	27134483	0.993000	0.37304	0.987000	0.45799	0.985000	0.73830	2.920000	0.48844	2.824000	0.97209	0.655000	0.94253	GAC		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			7	479	1	0	0.000442599	0.000442599	0.00556767	7	479					A	28212612	C	A	28212612	3	1	75	1	0	0	0	0	1	0	0	0	255	884	31	3	1275	3	ADAMTS1	21	28212612	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		28212612	19917283	431	9826											
HUNK	30811	broad.mit.edu	37	chr21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttatttcagagacttgAagatagagaatttgctacta	8	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(562-564)Aag>Gag		hormonally up-regulated Neu-associated kinase							125	121	123					21																	33312484		2201	4298	6499	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33312484A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.562A>G	21.37:g.33312484A>G	ENSP00000270112:p.Lys188Glu						p.K188E	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			3	922	+			188			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.562A>G	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	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	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	HUNK	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG		0.299	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		12	233	0	0	0	0.000219431	0	12	233					G	33312484	A	G	33312484	3	3	75	1	0	0	0	0	1	0	0	0	7488	247	9	4	572	4	HUNK	21	33312484	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	5099872	33312484	14817411	432	9827											
GCFC1	94104	broad.mit.edu	37	chr21	34109641	34109641	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctaagtgtacaaggtatcGgcaaaagttttctaactgag	10	7	1	1	rs199507974		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:34109641G>T	ENST00000331923.4	-	17	2749	c.2560C>A	c.(2560-2562)Cga>Aga	p.R854R	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	854					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAAGGTATCGGCAAAAGTTT	0.343																																						ENST00000331923.4																			0											c.(2560-2562)Cga>Aga		PAX3 and PAX7 binding protein 1							80	78	79					21																	34109641		2203	4298	6501	SO:0001819	synonymous_variant	94104							g.chr21:34109641G>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2560C>A	21.37:g.34109641G>T						PAXBP1-AS1_ENST00000440052.1_RNA	p.R854R	NM_016631.3	NP_057715.2					17	2749	-								D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	c.2560C>A	CCDS13619.1																																																																																				0.343	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		9	424	1	0	0.000442599	0.000442599	0.00556767	9	424					T	34109641	G	T	34109641	2	4	75	1	0	0	0	0	0	0	0	1	6317	1124	39	3		3	GCFC1	21	34109641	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	797157	34109641	14020254	433	9828											
TTC3	7267	broad.mit.edu	37	chr21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaatgaatcagaaaagttCaggtatgttttttctctaag	7	5	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1354-1356)ttC>ttA		tetratricopeptide repeat domain 3							80	86	84					21																	38501361		2203	4296	6499	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38501361C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1356C>A	21.37:g.38501361C>A	ENSP00000381981:p.Phe452Leu					TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L	p.F452L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			16	4103	+		Myeloproliferative disorder(46;0.0412)	452					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1356C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	TTC3	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC		0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			8	380	1	0	0.000157383	0.000157383	0.00254253	8	380					A	38501361	C	A	38501361	3	1	75	1	0	0	0	0	1	0	0	0	16751	825	29	3	1414	3	TTC3	21	38501361	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4391720	38501361	9628534	434	9829											
BRWD1	54014	broad.mit.edu	37	chr21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacctttacaattttgcCgttgcttgaacctctggctt	7	11	2	1	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000333229.2	-	37	4649	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)cGg>cTg		bromodomain and WD repeat domain containing 1							126	133	130					21																	40578076		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578076C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4322G>T	21.37:g.40578076C>A	ENSP00000330753:p.Arg1441Leu					BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L	p.R1441L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4400	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4322G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	BRWD1	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	869	1	0	0.000673444	0.000673444	0.00785517	9	869					A	40578076	C	A	40578076	3	1	75	1	0	0	0	0	1	0	0	0	1529	652	23	3	2903	3	BRWD1	21	40578076	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2076715	40578076	7551819	435	9830											
PCP4	5121	broad.mit.edu	37	chr21	41300976	41300976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagacagaacgtgcagcGgtggccattcagtctcagtt	12	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463																																						ENST00000328619.5																			1	Substitution - coding silent(1)	p.A43A(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(127-129)gcG>gcA		Purkinje cell protein 4							102	94	97					21																	41300976		2203	4300	6503	SO:0001819	synonymous_variant	5121				central nervous system development	cytosol|nucleus		g.chr21:41300976G>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.129G>A	21.37:g.41300976G>A						PCP4_ENST00000468717.1_3'UTR	p.A43A	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN			3	314	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	43			IQ.		A6NDJ9|Q6ICS4|Q93059	Silent	SNP	ENST00000328619.5	37	c.129G>A	CCDS33563.1																																																																																				0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		25	322	0	0	0	0.000227799	0	25	322					A	41300976	G	A	41300976	2	1	75	1	0	0	0	0	0	0	0	1	11640	1103	39	1		1	PCP4	21	41300976	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	722900	41300976	6828919	436	9831											
POFUT2	23275	broad.mit.edu	37	chr21	46687600	46687600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaaacctcaccatctcGggtaacagcttttttagctc	7	12	3	0	rs372635250		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000349485.5	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000331343.7_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1039-1041)ccC>ccA		protein O-fucosyltransferase 2							174	171	172					21																	46687600		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46687600G>T	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1041C>A	21.37:g.46687600G>T						POFUT2_ENST00000349485.5_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	p.P347P	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	8	1067	-			347					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.1041C>A	CCDS13719.1																																																																																				0.517	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	781	1	0	1.49906e-05	0.000219431	0.000353665	12	781					T	46687600	G	T	46687600	2	4	75	1	0	0	0	0	0	0	0	1	12226	1103	39	3		3	POFUT2	21	46687600	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5386624	46687600	1442295	437	9832											
PCBP3	54039	broad.mit.edu	37	chr21	47359992	47359992	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaccaaaatcaatgaaattCgacagatgtctggagctcag	10	8	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:47359992C>A	ENST00000400314.1	+	15	1296	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000400308.1_Silent_p.R294R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(958-960)Cga>Aga		poly(rC) binding protein 3							73	78	77					21																	47359992		2062	4217	6279	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47359992C>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.958C>A	21.37:g.47359992C>A						PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400308.1_Silent_p.R294R	p.R320R			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1296	+	all_hematologic(128;0.24)		320			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.958C>A	CCDS42974.2																																																																																				0.537	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			16	686	1	0	3.32936e-07	0.00074312	1.06744e-05	16	686					A	47359992	C	A	47359992	2	1	75	1	0	0	0	0	0	0	0	1	11544	876	31	3		3	PCBP3	21	47359992	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	672392	47359992	769903	438	9833											
POTEH	23784	broad.mit.edu	37	chr22	16279236	16279236	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttaaatttgcttttttcttGattaaaaatttcaccacttg	3	6	2	1	rs560275562	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:16279236G>T	ENST00000343518.6	-	4	1038	c.987C>A	c.(985-987)atC>atA	p.I329I	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		68832	0.0		0.0	False		,,,				2504	0.002					ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(985-987)atC>atA		POTE ankyrin domain family, member H																																				SO:0001819	synonymous_variant	23784							g.chr22:16279236G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.987C>A	22.37:g.16279236G>T							p.I329I	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1038	-			329					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.987C>A	CCDS46658.1																																																																																				0.333	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		29	2649	1	0	0.000566183	0.000566183	0.00706542	29	2649					T	16279236	G	T	16279236	2	4	75	1	0	0	0	0	0	0	0	1	12309	1280	45	3		3	POTEH	22	16279236	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		16279236	35025330	439	9834											
KLHL22	84861	broad.mit.edu	37	chr22	20819390	20819390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaccgcagctccgtttgCgggctctgcaggctgggctg	15	14	1	0	rs370087004		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(865-867)ccG>ccA		kelch-like family member 22		C		0,4406		0,0,2203	46	46	46		867	-10.8	0	22		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL22	NM_032775.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/635	20819390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819390C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.867G>A	22.37:g.20819390C>T						KLHL22_ENST00000440659.2_Silent_p.P146P	p.P289P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1023	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	289					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.867G>A	CCDS13780.1																																																																																				0.632	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		4	159	0	0	0	0.00024832	0	4	159					T	20819390	C	T	20819390	2	4	75	1	0	0	0	0	0	0	0	1	8407	755	27	1		1	KLHL22	22	20819390	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4540154	20819390	30485176	440	9835											
MED15	51586	broad.mit.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcaggcggcgctaCagcagcagcagcagcagcag							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		9	156						9	156	---	---	---	---	-	20918819	CAG	-	20918817	7	5	75	1	0	1	0	1	0	0	0	0	9474	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-HZ-A77Q-01A-11D-A36O-08	99427	20918817	30385749	441	9836											
AP1B1	162	broad.mit.edu	37	chr22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggtgaaatattttgagtCagtcattttggtcccttatc	9	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000405198.1	-	1	38	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000357586.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(7-9)Gac>Tac		adaptor-related protein complex 1, beta 1 subunit							100	96	97					22																	29763226		2203	4297	6500	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29763226C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.7G>T	22.37:g.29763226C>A	ENSP00000384194:p.Asp3Tyr					AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y	p.D3Y	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			2	193	-			3					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.7G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.704187	0.88924	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000421126	T;T;T;T;T;T;T	0.42131	1.05;1.1;1.07;1.05;0.98;1.07;1.24	5.63	5.63	0.86233	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.965;0.988;0.997;0.997	T	0.71543	-0.4561	10	0.87932	D	0	-36.2579	17.1792	0.86850	0.0:1.0:0.0:0.0	.	3;3;3;3	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	Y	3	ENSP00000350199:D3Y;ENSP00000348297:D3Y;ENSP00000400065:D3Y;ENSP00000384194:D3Y;ENSP00000319361:D3Y;ENSP00000386071:D3Y;ENSP00000400022:D3Y	ENSP00000319361:D3Y	D	-	1	0	AP1B1	28093226	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.417000	0.80156	2.654000	0.90174	0.651000	0.88453	GAC		0.438	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		9	373	1	0	0.000673444	0.000673444	0.00785517	9	373					A	29763226	C	A	29763226	3	1	75	1	0	0	0	0	1	0	0	0	731	826	29	3	2930	3	AP1B1	22	29763226	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8844409	29763226	21541340	442	9837											
MORC2	22880	broad.mit.edu	37	chr22	31328956	31328956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcttgcccacctccacGgctgtgacacggcccgtgta	10	16	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2_ENST00000215862.4_Silent_p.A752A|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	814						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2254-2256)gcC>gcT		MORC family CW-type zinc finger 2							285	256	266					22																	31328956		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31328956G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2442C>T	22.37:g.31328956G>A						MORC2_ENST00000397641.2_Silent_p.A814A	p.A752A	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			23	3619	-			814					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.2256C>T																																																																																					0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		154	658	0	0	0	0.000781405	0	154	658					A	31328956	G	A	31328956	2	1	75	1	0	0	0	0	0	0	0	1	9743	1103	39	1		1	MORC2	22	31328956	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1565730	31328956	19975610	443	9838											
SHROOM2	357	broad.mit.edu	37	chrX	9864330	9864330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatactgtgggcacgttTgctgacaggtggaagttttt	15	5	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2380-2382)ttT>ttC		shroom family member 2							46	46	46					X																	9864330		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864330T>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2382T>C	X.37:g.9864330T>C							p.F794F	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2472	+		Hepatocellular(5;0.000888)	794					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2382T>C	CCDS14135.1																																																																																				0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		36	222	0	0	0	0.000191422	0	36	222					C	9864330	T	C	9864330	2	2	75	1	0	0	0	0	0	0	0	1	14344	1809	63	4		4	SHROOM2	23	9864330	Silent	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08		9864330	145406230	444	9839											
WWC3	55841	broad.mit.edu	37	chrX	10090729	10090729	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctccgcatgtctgtcGgattattcgctagccagcga	10	13	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1699-1701)tcG>tcT		WWC family member 3							258	234	242					X																	10090729		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10090729G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1701G>T	X.37:g.10090729G>T						WWC3_ENST00000454666.1_Silent_p.S567S	p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			12	2092	+			567					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1701G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186238	0.01620	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7766	1.7556	0.02981	0.4469:0.1995:0.1384:0.2152	.	.	.	.	X	572	.	.	G	+	1	0	WWC3	10050729	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-1.599000	0.02085	-3.243000	0.00206	-0.926000	0.02714	GGA		0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		14	1297	1	0	0.000274275	0.000274275	0.0039602	14	1297					T	10090729	G	T	10090729	2	4	75	1	0	0	0	0	0	0	0	1	17467	1103	39	3		3	WWC3	23	10090729	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	226399	10090729	145179831	445	9840											
FRMPD4	9758	broad.mit.edu	37	chrX	12736390	12736390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggacttggtcaaggggacCgcttcttaactgacgtgacc	12	11	2	2	rs376578782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3445-3447)Cgc>Agc		FERM and PDZ domain containing 4							178	164	169					X																	12736390		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736390C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3445C>A	X.37:g.12736390C>A	ENSP00000370057:p.Arg1149Ser						p.R1149S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3951	+			1149					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3445C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	FRMPD4	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC		0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		12	1018	1	0	0.000673444	0.000673444	0.00785517	12	1018					A	12736390	C	A	12736390	3	1	75	1	0	0	0	0	1	0	0	0	6086	652	23	3	3507	3	FRMPD4	23	12736390	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2645661	12736390	142534170	446	9841											
ACE2	59272	broad.mit.edu	37	chrX	15610443	15610443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgtatttagaattgtgttCaactgcaaattaaagataat	6	3	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:15610443C>A	ENST00000252519.3	-	3	450	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000427411.1_Missense_Mutation_p.L116F			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(346-348)ttG>ttT		angiotensin I converting enzyme 2	Moexipril(DB00691)						141	141	141					X																	15610443		2203	4297	6500	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15610443C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.348G>T	X.37:g.15610443C>A	ENSP00000252519:p.Leu116Phe					ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	p.L116F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			4	564	-	Hepatocellular(33;0.183)		116					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.348G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	7.521	0.656759	0.14580	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.31510	1.49;1.49	5.6	0.825	0.18824	.	0.075855	0.53938	D	0.000048	T	0.40272	0.1110	M	0.84219	2.685	0.30392	N	0.780935	P	0.47762	0.9	P	0.49665	0.618	T	0.43278	-0.9401	10	0.59425	D	0.04	-10.4956	5.6617	0.17672	0.0:0.5064:0.1256:0.368	.	116	Q9BYF1	ACE2_HUMAN	F	116	ENSP00000252519:L116F;ENSP00000389326:L116F	ENSP00000252519:L116F	L	-	3	2	ACE2	15520364	1.000000	0.71417	0.340000	0.25575	0.120000	0.20174	1.766000	0.38491	0.021000	0.15133	-0.303000	0.09236	TTG		0.313	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			10	713	1	0	2.27111e-07	0.00010058	7.55265e-06	10	713					A	15610443	C	A	15610443	3	1	75	1	0	0	0	0	1	0	0	0	137	825	29	3	2133	3	ACE2	23	15610443	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2874053	15610443	139660117	447	9842											
NHS	4810	broad.mit.edu	37	chrX	17745520	17745520	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgctcttcataatgtcttGaacaaaccattccaccaccg	5	13	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1098					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3229-3231)ttG>ttT		Nance-Horan syndrome (congenital cataracts and dental anomalies)							192	177	182					X																	17745520		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745520G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3231G>T	X.37:g.17745520G>T	ENSP00000369400:p.Leu1077Phe					NHS_ENST00000398097.3_Missense_Mutation_p.L921F	p.L1077F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	3569	+	Hepatocellular(33;0.183)		1077					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3231G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755600	0.15846	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.79	5.88	3.1	0.35709	.	0.496191	0.22945	N	0.053721	T	0.58666	0.2138	M	0.62723	1.935	0.39613	D	0.969907	B;B;B;D	0.89917	0.082;0.082;0.082;1.0	B;B;B;D	0.91635	0.058;0.058;0.058;0.999	T	0.58289	-0.7662	10	0.52906	T	0.07	-8.328	4.1375	0.10178	0.1384:0.1238:0.6063:0.1315	.	1098;919;921;1077	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1077;921;919	ENSP00000369400:L1077F;ENSP00000381170:L921F	ENSP00000369397:L919F	L	+	3	2	NHS	17655441	1.000000	0.71417	0.998000	0.56505	0.331000	0.28603	1.744000	0.38268	0.643000	0.30638	-1.070000	0.02257	TTG		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		11	631	1	0	1.49906e-05	0.000219431	0.000353665	11	631					T	17745520	G	T	17745520	3	4	75	1	0	0	0	0	1	0	0	0	10453	1281	45	3	3358	3	NHS	23	17745520	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2135077	17745520	137525040	448	9843											
CDKL5	6792	broad.mit.edu	37	chrX	18631387	18631387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaaaagacaaccagcattCgatccatggtgagcattttg	8	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2266-2268)ttC>ttA		cyclin-dependent kinase-like 5							122	117	119					X																	18631387		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18631387C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2268C>A	X.37:g.18631387C>A	ENSP00000369325:p.Phe756Leu					CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L|CDKL5_ENST00000463994.1_Intron	p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			16	2553	+	Hepatocellular(33;0.183)		756	Missing (in Ref. 4; CAA61445).				G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2268C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921786	0.73213	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79554	-1.28;-1.28	5.03	-2.85	0.05734	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	L	0.34521	1.04	0.34699	D	0.726521	D	0.76494	0.999	D	0.74674	0.984	T	0.81752	-0.0789	10	0.72032	D	0.01	-19.4956	12.8858	0.58042	0.0:0.1006:0.0:0.8994	.	756	O76039	CDKL5_HUMAN	L	756	ENSP00000369332:F756L;ENSP00000369325:F756L	ENSP00000369325:F756L	F	+	3	2	CDKL5	18541308	0.962000	0.33011	0.770000	0.31555	0.993000	0.82548	0.020000	0.13466	-0.882000	0.03987	0.499000	0.49734	TTC		0.353	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		11	622	1	0	0.00010058	0.00010058	0.00173709	11	622					A	18631387	C	A	18631387	3	1	75	1	0	0	0	0	1	0	0	0	3166	883	31	3	2322	3	CDKL5	23	18631387	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	885867	18631387	136639173	449	9844											
PHKA2	5256	broad.mit.edu	37	chrX	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccataagccccactcGgagcgctgtcataaaagaag	9	13	1	1	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1). {ECO:0000269|PubMed:7847371}.		carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM950938	PHKA2	M	rs137852288	c.(3613-3615)cCg>cAg		phosphorylase kinase, alpha 2 (liver)							193	187	189					X																	18911697		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911697G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3614C>A	X.37:g.18911697G>T	ENSP00000369274:p.Pro1205Gln					PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.P1205Q	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4279	-	Hepatocellular(33;0.183)		1205		P -> L (in GSD9A; type 1).			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3614C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490124	0.64074	.	.	ENSG00000044446	ENST00000379942	D	0.94537	-3.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-19.5219	19.2244	0.93812	0.0:0.0:1.0:0.0	.	1205	P46019	KPB2_HUMAN	Q	1205	ENSP00000369274:P1205Q	ENSP00000369274:P1205Q	P	-	2	0	PHKA2	18821618	1.000000	0.71417	0.326000	0.25389	0.046000	0.14306	9.361000	0.97122	2.492000	0.84095	0.600000	0.82982	CCG		0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		11	919	1	0	0.00010058	0.00010058	0.00173709	11	919					T	18911697	G	T	18911697	3	4	75	1	0	0	0	0	1	0	0	0	11886	1116	39	3	97	3	PHKA2	23	18911697	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	280310	18911697	136358863	450	9845											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		8	212						8	212	---	---	---	---	-	21627680	GAG	-	21627678	7	5	75	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-HZ-A77Q-01A-11D-A36O-08	2715981	21627678	133642882	451	9846											
CXorf22	170063	broad.mit.edu	37	chrX	35993949	35993949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacagttagattgtataatCgtcagaattgttgtgctcag	11	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2632-2634)Cgt>Agt		chromosome X open reading frame 22							175	156	163					X																	35993949		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993949C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2632C>A	X.37:g.35993949C>A	ENSP00000297866:p.Arg878Ser						p.R878S	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			15	2698	+			878					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2632C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766948	0.15983	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	5.31	3.49	0.39957	.	0.893270	0.09773	N	0.757696	T	0.10465	0.0256	L	0.38175	1.15	0.09310	N	0.999997	P	0.37141	0.584	B	0.37047	0.24	T	0.24977	-1.0145	10	0.09084	T	0.74	-2.0E-4	7.3829	0.26866	0.1665:0.7418:0.0:0.0917	.	878	Q6ZTR5	CX022_HUMAN	S	878	ENSP00000297866:R878S	ENSP00000297866:R878S	R	+	1	0	CXorf22	35903870	0.970000	0.33590	0.244000	0.24202	0.047000	0.14425	2.312000	0.43726	0.409000	0.25649	0.600000	0.82982	CGT		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		13	859	1	0	0.000308642	0.000308642	0.00435582	13	859					A	35993949	C	A	35993949	3	1	75	1	0	0	0	0	1	0	0	0	4113	884	31	3	2690	3	CXorf22	23	35993949	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14366271	35993949	119276611	452	9847											
USP9X	8239	broad.mit.edu	37	chrX	41045841	41045841	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcattcctaatccatcatcCgagtgcatgcttagaaatgt	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1210					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			1	Substitution - coding silent(1)	p.S1203S(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3628-3630)tcC>tcA		ubiquitin specific peptidase 9, X-linked							205	183	190					X																	41045841		2203	4300	6503	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41045841C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3630C>A	X.37:g.41045841C>A						USP9X_ENST00000378308.2_Silent_p.S1210S	p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			24	4263	+			1210					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3630C>A	CCDS43930.1																																																																																				0.403	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	705	1	0	3.86212e-05	0.000673444	0.000778902	8	705					A	41045841	C	A	41045841	2	1	75	1	0	0	0	0	0	0	0	1	17144	639	23	3		3	USP9X	23	41045841	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5051892	41045841	114224719	453	9848											
FOXP3	50943	broad.mit.edu	37	chrX	49113997	49113997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgcagcacaggggtcCgggcgtgggcatccaccgtt	15	14	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(340-342)cGg>cAg		forkhead box P3																																				SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49113997C>T		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.341G>A	X.37:g.49113997C>T	ENSP00000365380:p.Arg114Gln					FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	p.R114Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			4	528	-	Ovarian(276;0.236)		114					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.341G>A	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	FOXP3	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG		0.682	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		9	78	0	0	0	0.00010058	0	9	78					T	49113997	C	T	49113997	3	4	75	1	0	0	0	0	1	0	0	0	6055	652	23	1	990	1	FOXP3	23	49113997	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8068156	49113997	106156563	454	9849											
CCNB3	85417	broad.mit.edu	37	chrX	50053963	50053963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcgaagatatgataGctctgaatgagaaacccacc	7	11	2	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2794-2796)Gct>Act		cyclin B3							87	80	83					X																	50053963		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053963G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2794G>A	X.37:g.50053963G>A	ENSP00000365210:p.Ala932Thr					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T	p.A932T			Q8WWL7	CCNB3_HUMAN			6	3092	+	Ovarian(276;0.236)		932					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2794G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599279	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21361	2.01;2.01	3.34	-0.792	0.10925	.	264.062000	0.00166	N	0.000000	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.10268	-1.0637	9	.	.	.	.	2.7285	0.05220	0.2455:0.0:0.3704:0.3841	.	932	Q8WWL7	CCNB3_HUMAN	T	932	ENSP00000365210:A932T;ENSP00000276014:A932T	.	A	+	1	0	CCNB3	50070703	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.478000	0.22212	-0.326000	0.08564	-0.330000	0.08379	GCT		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	413	0	0	0	3.59834e-05	0	6	413					A	50053963	G	A	50053963	3	1	75	1	0	0	0	0	1	0	0	0	2923	971	34	2	2808	2	CCNB3	23	50053963	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	939966	50053963	105216597	455	9850											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		11	68						11	68	---	---	---	---	-	50350713	TCC	-	50350711	7	5	75	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-HZ-A77Q-01A-11D-A36O-08	296748	50350711	104919849	456	9851											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719034	64719034	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtccaatgataactacCgagaccttcaagttgaaaag	8	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	302							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(904-906)Cga>Aga		zinc finger CCCH-type containing 12B							107	98	101					X																	64719034		1891	4098	5989	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719034C>A	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.904C>A	X.37:g.64719034C>A						ZC3H12B_ENST00000423889.3_Silent_p.R291R	p.R302R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			3	971	+			291					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.904C>A	CCDS48131.2																																																																																				0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		7	336	1	0	2.7689e-08	8.12818e-05	9.72536e-07	7	336					A	64719034	C	A	64719034	2	1	75	1	0	0	0	0	0	0	0	1	17615	644	23	3		3	ZC3H12B	23	64719034	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14368323	64719034	90551526	457	9852											
MSN	4478	broad.mit.edu	37	chrX	64949377	64949377	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctaccctgaggatgtgtcCgaggaattgattcaggacat	11	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	2	Substitution - coding silent(2)	p.S90S(2)	lung(1)|kidney(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(268-270)tcC>tcA		moesin							118	96	103					X																	64949377		2203	4300	6503	SO:0001819	synonymous_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949377C>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.270C>A	X.37:g.64949377C>A							p.S90S	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			4	442	+			90			FERM.			Silent	SNP	ENST00000360270.5	37	c.270C>A	CCDS14382.1																																																																																				0.517	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		9	508	1	0	0.000442599	0.000442599	0.00556767	9	508					A	64949377	C	A	64949377	2	1	75	1	0	0	0	0	0	0	0	1	9926	639	23	3		3	MSN	23	64949377	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	230343	64949377	90321183	458	9853											
EDA2R	60401	broad.mit.edu	37	chrX	65819559	65819559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccactagtcgagctgcagtCgtcctcgaggatagggttaa	13	10	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577																																						ENST00000374719.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(661-663)Gac>Aac		ectodysplasin A2 receptor							78	50	60					X																	65819559		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819559C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.661G>A	X.37:g.65819559C>T	ENSP00000363851:p.Asp221Asn					EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	p.D221N	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN			6	717	-			221					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.661G>A	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	EDA2R	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		13	99	0	0	0	0.00010058	0	13	99					T	65819559	C	T	65819559	3	4	75	1	0	0	0	0	1	0	0	0	4920	884	31	1	236	1	EDA2R	23	65819559	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	870182	65819559	89451001	459	9854											
ARR3	407	broad.mit.edu	37	chrX	69497974	69497974	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtacaccaagactgtgttCattcaggaattcacgtgagc	9	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000307959.8	+	11	804	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(751-753)ttC>ttA		arrestin 3, retinal (X-arrestin)							95	70	78					X																	69497974		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69497974C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.753C>A	X.37:g.69497974C>A	ENSP00000311538:p.Phe251Leu					ARR3_ENST00000307959.8_Missense_Mutation_p.F251L	p.F251L			P36575	ARRC_HUMAN			11	851	+			251					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.753C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423118	0.43020	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16196	2.36;2.36	4.45	2.62	0.31277	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.463590	0.25622	N	0.029404	T	0.07279	0.0184	N	0.04162	-0.26	0.33290	D	0.563337	P;B	0.38280	0.625;0.001	B;B	0.34931	0.192;0.002	T	0.23547	-1.0185	10	0.44086	T	0.13	.	9.4817	0.38904	0.0:0.8173:0.0:0.1827	.	251;251	P36575;P36575-2	ARRC_HUMAN;.	L	251	ENSP00000363619:F251L;ENSP00000311538:F251L	ENSP00000311538:F251L	F	+	3	2	ARR3	69414699	0.664000	0.27457	0.266000	0.24541	0.988000	0.76386	1.268000	0.33062	0.260000	0.21731	0.513000	0.50165	TTC		0.512	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		8	348	1	0	0.000274275	0.000274275	0.0039602	8	348					A	69497974	C	A	69497974	3	1	75	1	0	0	0	0	1	0	0	0	980	825	29	3	791	3	ARR3	23	69497974	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3678415	69497974	85772586	460	9855											
ACRC	93953	broad.mit.edu	37	chrX	70823900	70823900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaagctcccgacgacaGcagtgatgattcggaagctc	12	11	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19	18	19					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			11	627	0	0	0	0.000566183	0	11	627					A	70823900	G	A	70823900	3	1	75	1	0	0	0	0	1	0	0	0	171	971	34	2	799	2	ACRC	23	70823900	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1325926	70823900	84446660	461	9856											
KIAA2022	340533	broad.mit.edu	37	chrX	73963428	73963428	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaaagagtagtcttgtctcGaacattgtcctgaaaggatt	9	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																						ENST00000373468.1																			1	Substitution - Nonsense(1)	p.R322*(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(964-966)Cga>Aga		KIAA2022							91	78	83					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963428G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>A	X.37:g.73963428G>T						KIAA2022_ENST00000055682.5_Silent_p.R322R	p.R322R			Q5QGS0	K2022_HUMAN			3	1615	-			322					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.964C>A	CCDS35337.1																																																																																				0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	592	1	0	0.000274275	0.000274275	0.0039602	8	592					T	73963428	G	T	73963428	2	4	75	1	0	0	0	0	0	0	0	1	8299	1066	37	3		3	KIAA2022	23	73963428	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3139528	73963428	81307132	462	9857											
ATRX	546	broad.mit.edu	37	chrX	76939312	76939312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctttgttcctctgttGgaacattctgatgcatgtgc	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCTCTGTTGGAACATTCTG	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1435-1437)cCa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						193	196	195					X																	76939312		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939312G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1436C>A	X.37:g.76939312G>T	ENSP00000362441:p.Pro479Gln					ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	p.P479Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1650	-			479					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1436C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	3.654	-0.071015	0.07228	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91843	-2.92;-2.92	4.81	3.94	0.45596	.	1.154860	0.06338	U	0.707442	D	0.91637	0.7357	L	0.44542	1.39	0.80722	D	1	P;P;B;B	0.45212	0.612;0.853;0.429;0.303	B;P;B;B	0.47528	0.278;0.549;0.186;0.091	T	0.81050	-0.1108	10	0.33141	T	0.24	1.7015	12.5503	0.56223	0.0841:0.0:0.9159:0.0	.	479;440;441;479	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	479;441;435	ENSP00000362441:P479Q;ENSP00000378967:P441Q	ENSP00000362441:P479Q	P	-	2	0	ATRX	76825968	0.362000	0.24980	0.054000	0.19295	0.875000	0.50365	1.948000	0.40303	0.822000	0.34565	0.509000	0.49947	CCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	1717	1	0	2.17888e-05	0.000442599	0.00047966	14	1717					T	76939312	G	T	76939312	3	4	75	1	0	0	0	0	1	0	0	0	1209	1348	47	3	6150	3	ATRX	23	76939312	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2975884	76939312	78331248	463	9858											
ATP7A	538	broad.mit.edu	37	chrX	77298876	77298876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagacagtcaagaggattcGgataaattttgtctttgctc	10	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L|ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGAGGATTCGGATAAATTTT	0.343																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4066-4068)cGg>cTg		ATPase, Cu++ transporting, alpha polypeptide							151	148	149					X																	77298876		2203	4299	6502	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298876G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4067G>T	X.37:g.77298876G>T	ENSP00000345728:p.Arg1356Leu					ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	p.R1356L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			21	4222	+			1356					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4067G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296577	0.81025	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99239	-5.61;-5.61;-5.61	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.65320	2	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	D	0.99853	1.1074	10	0.87932	D	0	-22.2346	18.1943	0.89815	0.0:0.0:1.0:0.0	.	1356	Q04656	ATP7A_HUMAN	L	1278;359;1356	ENSP00000343026:R1278L;ENSP00000343678:R359L;ENSP00000345728:R1356L	ENSP00000345728:R1356L	R	+	2	0	ATP7A	77185532	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.545000	0.82128	2.234000	0.73211	0.600000	0.82982	CGG		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		11	841	1	0	6.40141e-05	6.40141e-05	0.00117365	11	841					T	77298876	G	T	77298876	3	4	75	1	0	0	0	0	1	0	0	0	1191	1116	39	3	4145	3	ATP7A	23	77298876	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	359564	77298876	77971684	464	9859											
PCDH11X	27328	broad.mit.edu	37	chrX	91090850	91090850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggaggttgccattttgcCggatgaaatatttagactgg	13	5	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P116Q(3)		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						GCCATTTTGCCGGATGAAATA	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			3	Substitution - Missense(3)	p.P116Q(3)	lung(3)	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						c.(346-348)cCg>cAg		protocadherin 11 X-linked							78	72	74					X																	91090850		2202	4281	6483	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090850C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.347C>A	X.37:g.91090850C>A	ENSP00000362186:p.Pro116Gln					PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q	p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1192	+			116			Cadherin 1.		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.347C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244372	0.59103	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.56;0.62;0.63;0.55;0.64;0.6;0.61;0.63;0.64	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.59912	1.85	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.65319	-0.6197	10	0.31617	T	0.26	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	116;116;116;116;116;116;116;116	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Q	116	ENSP00000378746:P116Q;ENSP00000362186:P116Q;ENSP00000362189:P116Q;ENSP00000355040:P116Q;ENSP00000362180:P116Q;ENSP00000423762:P116Q;ENSP00000355105:P116Q;ENSP00000384758:P116Q;ENSP00000298274:P116Q	ENSP00000298274:P116Q	P	+	2	0	PCDH11X	90977506	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	CCG		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		9	469	1	0	0.000442599	0.000442599	0.00556767	9	469					A	91090850	C	A	91090850	3	1	75	1	0	0	0	0	1	0	0	0	11550	652	23	3	349	3	PCDH11X	23	91090850	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13791974	91090850	64179710	465	9860											
NXF5	55998	broad.mit.edu	37	chrX	101097757	101097757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttcatcttgtgtgttcCgcctcatttttctctctgga	7	10	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:101097757C>A	ENST00000361708.2	-	3	367	c.8G>T	c.(7-9)cGg>cTg	p.R3L	NXF5_ENST00000473265.2_Missense_Mutation_p.R3L|NXF5_ENST00000537026.1_Missense_Mutation_p.R3L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	3					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGTGTGTTCCGCCTCATTTT	0.423																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(7-9)cGg>cTg		nuclear RNA export factor 5							369	299	322					X																	101097757		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101097757C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.8G>T	X.37:g.101097757C>A	ENSP00000355286:p.Arg3Leu					NXF5_ENST00000361708.2_Missense_Mutation_p.R3L|NXF5_ENST00000473265.2_Missense_Mutation_p.R3L	p.R3L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			3	367	-			3					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.8G>T		.	.	.	.	.	.	.	.	.	.	C	4.470	0.087126	0.08583	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.42900	0.96;0.96;0.96	2.02	-0.809	0.10864	.	1.140210	0.06916	U	0.808583	T	0.21962	0.0529	N	0.20986	0.625	0.09310	N	1	B	0.30104	0.268	B	0.18871	0.023	T	0.14254	-1.0479	10	0.34782	T	0.22	.	1.7519	0.02973	0.2969:0.1939:0.0:0.5092	.	3	A2RRM0	.	L	3	ENSP00000442401:R3L;ENSP00000426978:R3L;ENSP00000355286:R3L	ENSP00000263032:R3L	R	-	2	0	NXF5	100984413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.505000	0.06367	-0.274000	0.09232	-0.989000	0.02550	CGG		0.423	NXF5-201	KNOWN	basic	protein_coding	protein_coding				11	1017	1	0	3.09899e-07	0.000274275	9.98704e-06	11	1017					A	101097757	C	A	101097757	3	1	75	1	0	0	0	0	1	0	0	0	10828	652	23	3	1145	3	NXF5	23	101097757	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10006907	101097757	54172803	466	9861											
TBC1D8B	54885	broad.mit.edu	37	chrX	106092492	106092492	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggttcagatgattttatgCcactagtaagaatccaagga	9	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000357242.5	+	12	2011				TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P619S|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328																																						ENST00000310452.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1855-1857)Cca>Tca		TBC1 domain family, member 8B (with GRAM domain)							56	54	54					X																	106092492		2203	4300	6503	SO:0001627	intron_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106092492C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1838-763C>T	X.37:g.106092492C>T						TBC1D8B_ENST00000357242.5_Intron|TBC1D8B_ENST00000276175.3_Intron	p.P619S	NM_198881.1	NP_942582.1	Q0IIM8	TBC8B_HUMAN			12	2020	+			0			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1855C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	-	2.460	-0.324381	0.05350	.	.	ENSG00000133138	ENST00000310452	T	0.12774	2.65	.	.	.	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	P	0.52842	0.956	P	0.60541	0.876	T	0.10245	-1.0638	6	0.37606	T	0.19	.	.	.	.	.	619	B9A6K6	.	S	619	ENSP00000310675:P619S	ENSP00000310675:P619S	P	+	1	0	TBC1D8B	105979148	0.138000	0.22547	0.098000	0.21074	0.067000	0.16453	0.331000	0.19733	0.378000	0.24764	0.379000	0.24179	CCA		0.328	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		5	330	0	0	0	0.000274275	0	5	330					T	106092492	C	T	106092492	1	4	75	0	1	0	0	0	0	0	0	0	15678	739	26	2		2	TBC1D8B	23	106092492	Intron	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4994735	106092492	49178068	467	9862											
COL4A6	1288	broad.mit.edu	37	chrX	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-													ccaggtggaccaggatggccTttttcaccaggaagtccagg							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:107430450delT	ENST00000372216.4	-	23	1930	c.1830delA	c.(1828-1830)aaafs	p.K610fs	COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	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)			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						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				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						c.(1828-1830)aafs		collagen, type IV, alpha 6							127	118	121					X																	107430450		2203	4300	6503	SO:0001589	frameshift_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:107430450delT	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.1830delA	X.37:g.107430450delT	ENSP00000361290:p.Lys610fs					COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs	p.K610fs			Q14031	CO4A6_HUMAN			23	2061	-			610			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	37	c.1830delA	CCDS14541.1																																																																																				0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			9	947						9	947	---	---	---	---	-	107430450	T	-	107430450	7	5	75	1	0	1	0	1	0	0	0	0	3704	1606	56	0	3337	0	COL4A6	23	107430450	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	1337958	107430450	47840110	468	9863											
HTR2C	3358	broad.mit.edu	37	chrX	114141360	114141360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttactgcacggccacacCgaggaaccgcctggactaag	11	13	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371950.3_Silent_p.R222R|HTR2C_ENST00000371951.1_Silent_p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512																																						ENST00000276198.1																			1	Substitution - coding silent(1)	p.T253T(1)	urinary_tract(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(757-759)acC>acA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						234	215	222					X																	114141360		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141360C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.759C>A	X.37:g.114141360C>A						HTR2C_ENST00000371951.1_Silent_p.T253T|HTR2C_ENST00000371950.3_Silent_p.R222R	p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1487	+			253					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.759C>A	CCDS14564.1																																																																																				0.512	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		11	1170	1	0	0.000442599	0.000442599	0.00556767	11	1170					A	114141360	C	A	114141360	2	1	75	1	0	0	0	0	0	0	0	1	7473	639	23	3		3	HTR2C	23	114141360	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6710910	114141360	41129200	469	9864											
DOCK11	139818	broad.mit.edu	37	chrX	117796744	117796744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggatgatggatgtcCattatagtgaagtaaggatt	13	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276202.7	+	45	5128	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5065-5067)Cat>Aat		dedicator of cytokinesis 11							96	82	87					X																	117796744		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117796744C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5065C>A	X.37:g.117796744C>A	ENSP00000276202:p.His1689Asn					DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N	p.H1689N			Q5JSL3	DOC11_HUMAN			45	5139	+			1689			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5065C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	DOCK11	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		8	296	1	0	3.09899e-07	0.000274275	9.98704e-06	8	296					A	117796744	C	A	117796744	3	1	75	1	0	0	0	0	1	0	0	0	4702	594	21	3	5243	3	DOCK11	23	117796744	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3655384	117796744	37473816	470	9865											
IL13RA1	3597	broad.mit.edu	37	chrX	117925772	117925772	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaccaaggaggaaacCgactctgtagtgctgataga	11	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(1237-1239)acC>acA		interleukin 13 receptor, alpha 1							195	169	178					X																	117925772		2203	4300	6503	SO:0001819	synonymous_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117925772C>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1239C>A	X.37:g.117925772C>A						IL13RA1_ENST00000371637.3_Silent_p.T212T	p.T413T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			11	1306	+			413					O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	37	c.1239C>A	CCDS14573.1																																																																																				0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		9	510	1	0	2.17888e-05	0.000442599	0.00047966	9	510					A	117925772	C	A	117925772	2	1	75	1	0	0	0	0	0	0	0	1	7659	639	23	3		3	IL13RA1	23	117925772	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	129028	117925772	37344788	471	9866											
THOC2	57187	broad.mit.edu	37	chrX	122800961	122800961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtataaagttacataccttcGgtagagaggctcaatagtta	9	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000491737.1_Silent_p.R281R|THOC2_ENST00000355725.4_Silent_p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1186-1188)Cga>Aga		THO complex 2							109	94	99					X																	122800961		1862	4080	5942	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122800961G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1186C>A	X.37:g.122800961G>T						THOC2_ENST00000355725.4_Silent_p.R396R|THOC2_ENST00000491737.1_Silent_p.R281R	p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			11	1217	-			396					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.1186C>A	CCDS43988.1																																																																																				0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			10	871	1	0	0.000442599	0.000442599	0.00556767	10	871					T	122800961	G	T	122800961	2	4	75	1	0	0	0	0	0	0	0	1	15917	1124	39	3		3	THOC2	23	122800961	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4875189	122800961	32469599	472	9867											
STAG2	10735	broad.mit.edu	37	chrX	123200044	123200044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgacctttcaaagTgggatttatttgcttgtaat	9	7	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123200044T>G	ENST00000371160.1	+	22	2406	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTTCAAAGTGGGATTTATT	0.289																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2116-2118)Tgg>Ggg		stromal antigen 2							67	68	68					X																	123200044		2202	4298	6500	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200044T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2116T>G	X.37:g.123200044T>G	ENSP00000360202:p.Trp706Gly					STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G	p.W706G			Q8N3U4	STAG2_HUMAN			22	2406	+			706	W -> R (in Ref. 5; CAA99732).				B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2116T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899217	0.52227	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.87456	2.885	0.80722	D	1	B;B	0.30511	0.282;0.185	B;B	0.36244	0.22;0.144	T	0.45483	-0.9258	10	0.40728	T	0.16	-21.7395	15.0823	0.72125	0.0:0.0:0.0:1.0	.	706;706	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	G	706;637;706;706;706;706	ENSP00000218089:W706G;ENSP00000346555:W637G;ENSP00000360202:W706G;ENSP00000360199:W706G;ENSP00000360187:W706G;ENSP00000360186:W706G	ENSP00000218089:W706G	W	+	1	0	STAG2	123027725	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.944000	0.56390	0.486000	0.48141	TGG		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		14	550	0	0	0	9.7654e-05	0	14	550					G	123200044	T	G	123200044	3	3	75	1	0	0	0	0	1	0	0	0	15295	1696	59	4	2194	4	STAG2	23	123200044	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	399083	123200044	32070516	473	9868											
ODZ1	10178	broad.mit.edu	37	chrX	123637539	123637539	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcagggcacgtttcatattCatatcccacagatactgcaa	7	11	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123637539C>A	ENST00000371130.3	-	19	3379	c.3316G>T	c.(3316-3318)Gaa>Taa	p.E1106*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.E1106*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1106					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTTTCATATTCATATCCCACA	0.373																																						ENST00000422452.2																			0											c.(3316-3318)Gaa>Taa		teneurin transmembrane protein 1							153	147	149					X																	123637539		2203	4300	6503	SO:0001587	stop_gained	10178							g.chrX:123637539C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3316G>T	X.37:g.123637539C>A	ENSP00000360171:p.Glu1106*					TENM1_ENST00000371130.3_Nonsense_Mutation_p.E1106*	p.E1106*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					19	3379	-								B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.3316G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	44	10.590277	0.99433	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8649	0.92287	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000360171:E1106X	E	-	1	0	ODZ1	123465220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.402000	0.81655	0.600000	0.82982	GAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		12	929	1	0	0.000151284	0.000151284	0.00252221	12	929					A	123637539	C	A	123637539	4	1	75	1	0	0	0	0	0	1	0	0	10876	835	29	3	4938	3	ODZ1	23	123637539	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	437495	123637539	31633021	474	9869											
CXorf48	54967	broad.mit.edu	37	chrX	134294414	134294414	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttatagaagtaacacatcCaattaaaactctggttcctg	5	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:134294414C>A	ENST00000276241.6	-	3	572	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CXorf48_ENST00000344129.2_Nonsense_Mutation_p.G116*	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		116										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAACACATCCAATTAAAACT	0.328																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(346-348)Gga>Tga		chromosome X open reading frame 48							28	27	27					X																	134294414		2202	4298	6500	SO:0001587	stop_gained	54967							g.chrX:134294414C>A																												ENST00000276241.6:c.346G>T	X.37:g.134294414C>A	ENSP00000276241:p.Gly116*					CXorf48_ENST00000276241.6_Nonsense_Mutation_p.G116*	p.G116*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			3	572	-	Acute lymphoblastic leukemia(192;0.000127)		116					Q9NWY8	Nonsense_Mutation	SNP	ENST00000276241.6	37	c.346G>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337580	0.60963	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	.	.	.	2.93	2.03	0.26663	.	1.449800	0.04630	N	0.403407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.3107	5.5897	0.17293	0.0:0.8368:0.0:0.1632	.	.	.	.	X	116	.	ENSP00000276241:G116X	G	-	1	0	CXorf48	134122080	0.710000	0.27896	0.002000	0.10522	0.003000	0.03518	2.725000	0.47294	0.611000	0.30052	0.594000	0.82650	GGA		0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			7	297	1	0	0.000157383	0.000157383	0.00254253	7	297					A	134294414	C	A	134294414	4	1	75	1	0	0	0	0	0	1	0	0	4122	603	21	3	468	3	CXorf48	23	134294414	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10656875	134294414	20976146	475	9870											
MMGT1	93380	broad.mit.edu	37	chrX	135049610	135049610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaatatgaactatacCgtaacaggtaactgcaaagg	8	9	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318																																						ENST00000305963.2																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(175-177)Ggt>Tgt		membrane magnesium transporter 1							131	124	126					X																	135049610		2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135049610C>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"ER membrane protein complex subunit 5"		"transmembrane protein 32"	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.175G>T	X.37:g.135049610C>A	ENSP00000306220:p.Gly59Cys					MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	p.G59C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN			3	562	-			59					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.175G>T	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	MMGT1	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT		0.318	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		13	880	1	0	0.000151284	0.000151284	0.00252221	13	880					A	135049610	C	A	135049610	3	1	75	1	0	0	0	0	1	0	0	0	9688	652	23	3	228	3	MMGT1	23	135049610	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	755196	135049610	20220950	476	9871											
ATP11C	286410	broad.mit.edu	37	chrX	138865392	138865392	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctgggaaaaactgcCgagtctgctcctttacaaaa	8	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000327569.3	-	17	1808	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1699-1701)tcG>tcT		ATPase, class VI, type 11C							176	169	172					X																	138865392		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138865392C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1710G>T	X.37:g.138865392C>A						ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.S570S	p.S567S			Q8NB49	AT11C_HUMAN			17	2728	-	Acute lymphoblastic leukemia(192;0.000127)		570					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1701G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718142	0.15372	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.03	-0.535	0.11879	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.1686	0.00111	0.3292:0.1618:0.2295:0.2795	.	.	.	.	L	122	.	.	R	-	2	0	ATP11C	138693058	0.034000	0.19679	0.888000	0.34837	0.862000	0.49288	-0.918000	0.04021	-0.124000	0.11724	-1.375000	0.01183	CGG		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		13	812	1	0	1.49906e-05	0.000219431	0.000353665	13	812					A	138865392	C	A	138865392	2	1	75	1	0	0	0	0	0	0	0	1	1122	639	23	3		3	ATP11C	23	138865392	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3815782	138865392	16405168	477	9872											
SPANXN2	494119	broad.mit.edu	37	chrX	142803706	142803706	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcattttttttgttattGgattcacaggggctcttcct	7	8	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(55-57)tcC>tcA		SPANX family, member N2							239	224	229					X																	142803706		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142803706G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.57C>A	X.37:g.142803706G>T							p.S19S	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	810	-	Acute lymphoblastic leukemia(192;6.56e-05)		19					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.57C>A	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		11	997	1	0	2.52707e-12	0.000442599	9.93662e-11	11	997					T	142803706	G	T	142803706	2	4	75	1	0	0	0	0	0	0	0	1	15043	1335	47	3		3	SPANXN2	23	142803706	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3938314	142803706	12466854	478	9873											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		10	420	0	0	0	0.000442599	0	10	420					A	150156360	G	A	150156360	2	1	75	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7352654	150156360	5114200	479	9874											
IDH3G	3421	broad.mit.edu	37	chrX	153053545	153053545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcaccgaaggatgttgtttCgagatttgtgcgacggtggc	14	8	1	1	rs370866394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000217901.5	-	6	588	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000370092.3_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGTTGTTTCGAGATTTGTG	0.592																																						ENST00000370092.3																			1	Substitution - Missense(1)	p.R131Q(1)	endometrium(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(391-393)cGa>cTa		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						247	218	228					X																	153053545		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053545C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.392G>T	X.37:g.153053545C>A	ENSP00000217901:p.Arg131Leu					IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000497043.1_5'UTR	p.R131L	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			6	577	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		131					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.392G>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576108	0.45902	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.85	0.62838	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.20445	0.575	0.80722	D	1	B;P	0.45827	0.145;0.867	B;B	0.38880	0.111;0.284	T	0.53019	-0.8497	10	0.02654	T	1	.	14.6761	0.68981	0.0:0.8583:0.1417:0.0	.	131;131	E9PDD5;P51553	.;IDH3G_HUMAN	L	131;131;131;73;27;108;71	ENSP00000359110:R131L;ENSP00000217901:R131L;ENSP00000359111:R131L;ENSP00000408529:R73L;ENSP00000401862:R108L;ENSP00000402747:R71L	ENSP00000217901:R131L	R	-	2	0	IDH3G	152706739	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.559000	0.82265	2.411000	0.81874	0.529000	0.55759	CGA		0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			12	1366	1	0	1.12685e-05	0.000274275	0.000275198	12	1366					A	153053545	C	A	153053545	3	1	75	1	0	0	0	0	1	0	0	0	7528	884	31	3	884	3	IDH3G	23	153053545	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2897185	153053545	2217015	480	9875											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	15	8	1	3			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98	107	104					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		7	531	0	0	0	0.02938	0	7	531					A	1848280	G	A	1848280	3	1	76	1	0	0	0	0	1	0	0	0	2597	1203	42	2	357	2	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		1848280	247402341	1	9876											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)			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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	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	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		10	314						10	314	---	---	---	---	-	6680071	GAA	-	6680069	7	5	76	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-HZ-A8P0-01A-11D-A36O-08	4831789	6680069	242570552	2	9877											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			9	500						9	500	---	---	---	---	-	44071948	GCG	-	44071946	7	5	76	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-HZ-A8P0-01A-11D-A36O-08	37391877	44071946	205178675	3	9878											
SLC6A9	6536	broad.mit.edu	37	chr1	44463241	44463241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgggagtcctggaggcgGctggagccattactgcccac	14	13	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463241G>A	ENST00000360584.2	-	14	2288	c.2097C>T	c.(2095-2097)agC>agT	p.S699S	SLC6A9_ENST00000372310.3_Silent_p.S626S|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Silent_p.S515S|SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	699					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTGGAGGCGGCTGGAGCCAT	0.677																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1876-1878)agC>agT		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						51	62	59					1																	44463241		2202	4300	6502	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463241G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.2097C>T	1.37:g.44463241G>A						SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000372306.3_Intron	p.S626S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			14	2043	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	699					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1878C>T	CCDS41317.1																																																																																				0.677	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		6	568	0	0	0	0.217242	0	6	568					A	44463241	G	A	44463241	2	1	76	1	0	0	0	0	0	0	0	1	14741	1194	42	2		2	SLC6A9	1	44463241	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	391295	44463241	204787380	4	9879											
SLC6A9	6536	broad.mit.edu	37	chr1	44463406	44463406	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggctttgtggcatttttCaaacgctgcatgaggtaggc	12	8	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463406C>A	ENST00000360584.2	-	14	2123	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F	SLC6A9_ENST00000372310.3_Missense_Mutation_p.L571F|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	644					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCATTTTTCAAACGCTGCA	0.647																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1711-1713)ttG>ttT		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						89	103	98					1																	44463406		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463406C>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1932G>T	1.37:g.44463406C>A	ENSP00000353791:p.Leu644Phe					SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000372306.3_Intron	p.L571F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			14	1878	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	644					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.1713G>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547710	0.45383	.	.	ENSG00000196517	ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T;T;T;T	0.75821	-0.9;-0.95;-0.97;-0.93	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.75817	0.3901	L	0.40543	1.245	0.80722	D	1	D;B;B;D	0.65815	0.986;0.251;0.063;0.995	P;B;B;P	0.57425	0.655;0.098;0.073;0.82	T	0.75975	-0.3128	10	0.49607	T	0.09	.	11.4173	0.49960	0.0:0.9164:0.0:0.0836	.	575;571;590;644	B7Z3W8;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	F	571;460;644;590	ENSP00000361384:L571F;ENSP00000434460:L460F;ENSP00000353791:L644F;ENSP00000350362:L590F	ENSP00000350362:L590F	L	-	3	2	SLC6A9	44235993	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.373000	0.59537	2.553000	0.86117	0.609000	0.83330	TTG		0.647	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		7	597	1	0	0.0293803	0.02938	0.0463599	7	597					A	44463406	C	A	44463406	3	1	76	1	0	0	0	0	1	0	0	0	14741	825	29	3	192	3	SLC6A9	1	44463406	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	165	44463406	204787215	5	9880											
USP1	7398	broad.mit.edu	37	chr1	62916272	62916272	+	Frame_Shift_Del	DEL	A	A	-													agccaagtaaagttttgaacAaaaaaaatgtagaagctatt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:62916272delA	ENST00000339950.4	+	9	2793	c.1978delA	c.(1978-1980)aaafs	p.K661fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	661	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGTTTTGAACAAAAAAAATGT	0.373																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1978-1980)aafs		ubiquitin specific peptidase 1							53	58	56					1																	62916272		2203	4300	6503	SO:0001589	frameshift_variant	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916272delA		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1978delA	1.37:g.62916272delA	ENSP00000343526:p.Lys661fs					USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs	p.K661fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2793	+		all_neural(321;0.0281)	661					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Frame_Shift_Del	DEL	ENST00000339950.4	37	c.1978delA	CCDS621.1																																																																																				0.373	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		7	315						7	315	---	---	---	---	-	62916272	A	-	62916272	7	5	76	1	0	1	0	1	0	0	0	0	17094	131	5	0	2008	0	USP1	1	62916272	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P0-01A-11D-A36O-08	18452866	62916272	186334349	6	9881											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			8	902						8	902	---	---	---	---	-	74957826	CTT	-	74957824	6	5	76	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-HZ-A8P0-01A-11D-A36O-08	12041552	74957824	174292797	7	9882											
PHGDH	26227	broad.mit.edu	37	chr1	120263916	120263916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtggatctggaggccGcaacaaggaagggcatcttg	14	8	2	0	rs142988234		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:120263916G>A	ENST00000369409.4	+	2	398	c.262G>A	c.(262-264)Gca>Aca	p.A88T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A54T	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	88					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		TCTGGAGGCCGCAACAAGGAA	0.587																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(160-162)Gca>Aca		phosphoglycerate dehydrogenase	NADH(DB00157)	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	124	111	115		262	5.9	0.2	1	dbSNP_134	115	0,8600		0,0,4300	no	missense	PHGDH	NM_006623.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	88/534	120263916	1,13005	2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120263916G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.262G>A	1.37:g.120263916G>A	ENSP00000358417:p.Ala88Thr					PHGDH_ENST00000369409.4_Missense_Mutation_p.A88T	p.A54T			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	1667	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	88					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.160G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748004	0.89663	2.27E-4	0.0	ENSG00000092621	ENST00000369409;ENST00000369407	D;D	0.88586	-2.4;-2.4	5.92	5.92	0.95590	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96332	0.9244	10	0.87932	D	0	-11.8066	18.8845	0.92370	0.0:0.0:1.0:0.0	.	54;88	Q5SZU1;O43175	.;SERA_HUMAN	T	88;54	ENSP00000358417:A88T;ENSP00000358415:A54T	ENSP00000358415:A54T	A	+	1	0	PHGDH	120065439	1.000000	0.71417	0.192000	0.23308	0.339000	0.28857	9.628000	0.98415	2.813000	0.96785	0.561000	0.74099	GCA		0.587	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		5	371	0	0	0	0.217242	0	5	371					A	120263916	G	A	120263916	3	1	76	1	0	0	0	0	1	0	0	0	11883	1087	38	1	268	1	PHGDH	1	120263916	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	45306092	120263916	128986705	8	9883											
FMO5	2330	broad.mit.edu	37	chr1	146672844	146672844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctttccaggttaggaGggaagacctttttatacagg	12	7	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:146672844G>A	ENST00000254090.4	-	7	1461	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	358						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAGGTTAGGAGGGAAGACCTT	0.468																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(1072-1074)cCt>cTt		flavin containing monooxygenase 5							127	124	125					1																	146672844		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672844G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1073C>T	1.37:g.146672844G>A	ENSP00000254090:p.Pro358Leu					FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L	p.P358L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			7	1461	-	all_hematologic(923;0.0487)		358					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1073C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.659505	0.88154	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.66815	-0.23;-0.23	6.17	6.17	0.99709	.	0.097121	0.64402	D	0.000001	T	0.81259	0.4785	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81786	-0.0773	10	0.72032	D	0.01	-16.718	18.3732	0.90420	0.0:0.0:1.0:0.0	.	358;358	P49326;C9JJD1	FMO5_HUMAN;.	L	358	ENSP00000416011:P358L;ENSP00000254090:P358L	ENSP00000254090:P358L	P	-	2	0	FMO5	145139468	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.828000	0.99408	2.941000	0.99782	0.655000	0.94253	CCT		0.468	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		11	477	0	0	0	0.069234	0	11	477					A	146672844	G	A	146672844	3	1	76	1	0	0	0	0	1	0	0	0	5983	1000	35	2	683	2	FMO5	1	146672844	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	26408928	146672844	102577777	9	9884											
SV2A	9900	broad.mit.edu	37	chr1	149882423	149882423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcagctgcgtacacgcCaccaatcatccaaaacatgc	6	15	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:149882423C>T	ENST00000369146.3	-	4	1400	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	304					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGTACACGCCACCAATCATC	0.562																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(910-912)Ggc>Agc		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						63	60	61					1																	149882423		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149882423C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.910G>A	1.37:g.149882423C>T	ENSP00000358142:p.Gly304Ser					SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	p.G304S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		4	1400	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		304					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.910G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232995	0.95207	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.74106	-0.81;-0.81	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	L	0.52905	1.665	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.71613	-0.4540	10	0.19147	T	0.46	-14.7314	15.8174	0.78615	0.0:1.0:0.0:0.0	.	304	Q7L0J3	SV2A_HUMAN	S	304	ENSP00000358142:G304S;ENSP00000358141:G304S	ENSP00000358141:G304S	G	-	1	0	SV2A	148149047	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	GGC		0.562	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			50	228	0	0	0	0.139131	0	50	228					T	149882423	C	T	149882423	3	4	76	1	0	0	0	0	1	0	0	0	15469	594	21	2	1358	2	SV2A	1	149882423	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	3209579	149882423	99368198	10	9885											
GABPB2	126626	broad.mit.edu	37	chr1	151063024	151063024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagccgatggacatgCgcacatcgtggaactgcttg	14	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:151063024C>T	ENST00000368918.3	+	3	582	c.251C>T	c.(250-252)gCg>gTg	p.A84V	GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	84					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGGACATGCGCACATCGTG	0.488																																						ENST00000368918.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15						c.(250-252)gCg>gTg		GA binding protein transcription factor, beta subunit 2							100	94	96					1																	151063024		2203	4300	6503	SO:0001583	missense	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151063024C>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"Ankyrin repeat domain containing"	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.251C>T	1.37:g.151063024C>T	ENSP00000357914:p.Ala84Val					GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V	p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	3	582	+			84					B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	c.251C>T	CCDS983.1	.	.	.	.	.	.	.	.	.	.	C	9.007	0.981617	0.18812	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.62498	0.02;0.02;0.02	5.46	3.31	0.37934	Ankyrin repeat-containing domain (4);	0.357560	0.33144	N	0.005223	T	0.11836	0.0288	N	0.03050	-0.425	0.09310	N	1	P;B	0.39404	0.672;0.126	B;B	0.20184	0.028;0.008	T	0.10428	-1.0630	10	0.33141	T	0.24	6.5452	9.7477	0.40457	0.0:0.8043:0.0:0.1957	.	100;84	B4DXA3;Q8TAK5	.;GABP2_HUMAN	V	84;84;100;84	ENSP00000357914:A84V;ENSP00000357913:A84V;ENSP00000357912:A84V	ENSP00000357912:A84V	A	+	2	0	GABPB2	149329648	0.001000	0.12720	0.005000	0.12908	0.348000	0.29142	1.370000	0.34238	0.664000	0.31047	0.650000	0.86243	GCG		0.488	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		5	557	0	0	0	0.217242	0	5	557					T	151063024	C	T	151063024	3	4	76	1	0	0	0	0	1	0	0	0	6186	768	27	1	257	1	GABPB2	1	151063024	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1180601	151063024	98187597	11	9886											
RPTN	126638	broad.mit.edu	37	chr1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgaccatagtgggaaCtctggccttgtctgtctgtc	11	11	4	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1378-1380)aGt>aAt		repetin							780	691	719					1																	152128196		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128196C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1379G>A	1.37:g.152128196C>T	ENSP00000317895:p.Ser460Asn						p.S460N	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1443	-			460			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1379G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510364	0.27036	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12569	2.67	5.32	-2.06	0.07298	.	.	.	.	.	T	0.06371	0.0164	M	0.83012	2.62	0.09310	N	1	P	0.50443	0.935	P	0.45377	0.478	T	0.20773	-1.0265	9	0.21540	T	0.41	-0.0256	2.0282	0.03523	0.1265:0.3555:0.1247:0.3933	.	460	Q6XPR3	RPTN_HUMAN	N	460;115	ENSP00000317895:S460N	ENSP00000317895:S460N	S	-	2	0	RPTN	150394820	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.250000	0.09555	-0.447000	0.05616	AGT		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		21	3600	0	0	0	0.038147	0	21	3600					T	152128196	C	T	152128196	3	4	76	1	0	0	0	0	1	0	0	0	13714	565	20	2	979	2	RPTN	1	152128196	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1065172	152128196	97122425	12	9887											
HRNR	388697	broad.mit.edu	37	chr1	152192788	152192788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtcccatgttggccGgagctgggagactgccctga	14	12	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1315-1317)tcC>tcT		hornerin							93	97	96					1																	152192788		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192788G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1317C>T	1.37:g.152192788G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S439S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1392	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		439					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1317C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	593	0	0	0	0.217242	0	6	593					A	152192788	G	A	152192788	2	1	76	1	0	0	0	0	0	0	0	1	7389	1103	39	1		1	HRNR	1	152192788	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	64592	152192788	97057833	13	9888											
CCT3	7203	broad.mit.edu	37	chr1	156280946	156280946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtccaggagaacattgCgacacacttgcatggcatcc	12	11	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156280946C>T	ENST00000295688.3	-	12	1476	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	CCT3_ENST00000368261.3_Missense_Mutation_p.R354H|CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	399					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAACATTGCGACACACTTG	0.537																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1195-1197)cGc>cAc		chaperonin containing TCP1, subunit 3 (gamma)							76	73	74					1																	156280946		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156280946C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1196G>A	1.37:g.156280946C>T	ENSP00000295688:p.Arg399His					CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H	p.R399H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			12	1476	-	Hepatocellular(266;0.158)		399					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.1196G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.252956	0.95336	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73708	0.96;0.981;0.972	D	0.94427	0.7646	10	0.72032	D	0.01	-9.7785	17.4945	0.87713	0.0:1.0:0.0:0.0	.	361;398;399	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	399;361;354;354	ENSP00000295688:R399H;ENSP00000357242:R361H;ENSP00000357244:R354H;ENSP00000431543:R354H	ENSP00000295688:R399H	R	-	2	0	CCT3	154547570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.441000	0.80485	2.726000	0.93360	0.650000	0.86243	CGC		0.537	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		40	341	0	0	0	0.09836	0	40	341					T	156280946	C	T	156280946	3	4	76	1	0	0	0	0	1	0	0	0	2963	768	27	1	453	1	CCT3	1	156280946	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	4088158	156280946	92969675	14	9889											
ADCY10	55811	broad.mit.edu	37	chr1	167865890	167865890	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtacactttgtgaaaaattCatcaaaattaaaattggggg	8	5	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:167865890C>A	ENST00000367851.4	-	7	866	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75*|ADCY10_ENST00000367848.1_Nonsense_Mutation_p.E136*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	228					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGAAAAATTCATCAAAATTA	0.358																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(406-408)Gaa>Taa		adenylate cyclase 10 (soluble)							141	158	152					1																	167865890		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865890C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.682G>T	1.37:g.167865890C>A	ENSP00000356825:p.Glu228*					ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E228*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75*	p.E136*			Q96PN6	ADCYA_HUMAN			7	903	-			228			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.406G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930614	0.92389	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	5.32	4.41	0.53225	.	0.087235	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.2142	10.2284	0.43241	0.0:0.9081:0.0:0.0919	.	.	.	.	X	75;228;136	.	ENSP00000356822:E136X	E	-	1	0	ADCY10	166132514	0.997000	0.39634	1.000000	0.80357	0.067000	0.16453	3.660000	0.54496	1.378000	0.46305	-0.142000	0.14014	GAA		0.358	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	1228	1	0	0.184627	0.184627	0.26547	8	1228					A	167865890	C	A	167865890	4	1	76	1	0	0	0	0	0	1	0	0	293	835	29	3	4258	3	ADCY10	1	167865890	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	11584944	167865890	81384731	15	9890											
F5	2153	broad.mit.edu	37	chr1	169510340	169510340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgaagtctagagaaaGggttgtatggctgaggtctg	16	5	2	3	rs113604388		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:169510340G>T	ENST00000367797.3	-	13	4189	c.3988C>A	c.(3988-3990)Ctt>Att	p.L1330I	F5_ENST00000367796.3_Missense_Mutation_p.L1335I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1330	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTAGAGAAAGGGTTGTATGG	0.527																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4003-4005)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						213	237	229					1																	169510340		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510340G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3988C>A	1.37:g.169510340G>T	ENSP00000356771:p.Leu1330Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1330I	p.L1335I			P12259	FA5_HUMAN			13	4204	-	all_hematologic(923;0.208)		1330			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4003C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216915	0.22373	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35236	1.32;1.32	3.98	-2.81	0.05805	.	0.829576	0.10897	N	0.622070	T	0.11067	0.0270	M	0.65975	2.015	0.20074	N	0.999932	P	0.35077	0.483	B	0.27887	0.084	T	0.12630	-1.0540	9	0.26408	T	0.33	9.0E-4	5.349	0.16026	0.4407:0.2624:0.2969:0.0	.	1330	P12259	FA5_HUMAN	I	1330;1335	ENSP00000356771:L1330I;ENSP00000356770:L1335I	ENSP00000356770:L1335I	L	-	1	0	F5	167776964	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.890000	0.01613	-0.552000	0.06167	0.561000	0.74099	CTT		0.527	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	1456	1	0	0.00909568	0.150653	0.0150357	9	1456					T	169510340	G	T	169510340	3	4	76	1	0	0	0	0	1	0	0	0	5366	1000	35	3	2738	3	F5	1	169510340	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1644450	169510340	79740281	16	9891											
PRG4	10216	broad.mit.edu	37	chr1	186269304	186269304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattataactgtcaacactAcatggagtgctgccctgatt	8	9	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:186269304A>C	ENST00000445192.2	+	3	203	c.158A>C	c.(157-159)tAc>tCc	p.Y53S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	53	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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)			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						TGTCAACACTACATGGAGTGC	0.483																																						ENST00000445192.2																			0				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						c.(157-159)tAc>tCc		proteoglycan 4							170	161	164					1																	186269304		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186269304A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.158A>C	1.37:g.186269304A>C	ENSP00000399679:p.Tyr53Ser					PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367484.3_Intron	p.Y53S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			3	203	+			53			SMB 1.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.158A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862154	0.32884	.	.	ENSG00000116690	ENST00000367486;ENST00000367485;ENST00000445192	T;T;T	0.42900	0.96;0.96;0.96	5.57	4.38	0.52667	Somatomedin B domain (4);	0.178558	0.27122	N	0.020830	T	0.59074	0.2167	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.62248	-0.6894	10	0.87932	D	0	-5.8319	9.7406	0.40416	0.7331:0.0:0.0:0.2669	.	53;53	Q92954-3;Q92954	.;PRG4_HUMAN	S	53	ENSP00000356456:Y53S;ENSP00000356455:Y53S;ENSP00000399679:Y53S	ENSP00000356455:Y53S	Y	+	2	0	PRG4	184535927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.078000	0.41567	2.117000	0.64856	0.528000	0.53228	TAC		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		96	723	0	0	0	0.139131	0	96	723					C	186269304	A	C	186269304	3	2	76	1	0	0	0	0	1	0	0	0	12528	391	14	4	164	4	PRG4	1	186269304	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	16758964	186269304	62981317	17	9892											
F13B	2165	broad.mit.edu	37	chr1	197032085	197032085	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccagccaagcagaaaaatGacaattttttgtctatgctc	6	9	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197032085G>T	ENST00000367412.1	-	2	210	c.167C>A	c.(166-168)tCa>tAa	p.S56*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCAGAAAAATGACAATTTTTT	0.398																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(166-168)tCa>tAa		coagulation factor XIII, B polypeptide							135	147	143					1																	197032085		2203	4300	6503	SO:0001587	stop_gained	2165				blood coagulation	extracellular region		g.chr1:197032085G>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.167C>A	1.37:g.197032085G>T	ENSP00000356382:p.Ser56*						p.S56*	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			2	210	-			56			Sushi 1.		A8K3E5|Q5VYL5	Nonsense_Mutation	SNP	ENST00000367412.1	37	c.167C>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663580	0.88251	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.58	5.58	0.84498	.	1.088780	0.07392	N	0.889227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	19.5589	0.95364	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000356382:S56X	S	-	2	0	F13B	195298708	0.616000	0.27035	0.006000	0.13384	0.930000	0.56654	2.241000	0.43097	2.625000	0.88918	0.655000	0.94253	TCA		0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		9	1140	1	0	0.0293803	0.02938	0.0463599	9	1140					T	197032085	G	T	197032085	4	4	76	1	0	0	0	0	0	1	0	0	5359	1294	45	3	1862	3	F13B	1	197032085	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	10762781	197032085	52218536	18	9893											
ASPM	259266	broad.mit.edu	37	chr1	197062244	197062244	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactgtagattttttaaattCaatatattttatcctttcat	2	5	2	1	rs36074161		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197062244C>A	ENST00000367409.4	-	21	9488	c.9232G>T	c.(9232-9234)Gaa>Taa	p.E3078*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3078					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTAAATTCAATATATTTT	0.363																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9232-9234)Gaa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							70	72	71					1																	197062244		2203	4298	6501	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062244C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9232G>T	1.37:g.197062244C>A	ENSP00000356379:p.Glu3078*					ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493*	p.E3078*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			21	9488	-			3078					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9232G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	48	14.557976	0.99800	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	5.18	-2.18	0.07037	.	0.759301	0.12381	N	0.473849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	1.2479	0.01976	0.1645:0.1964:0.1632:0.4759	.	.	.	.	X	3078;1493;743;1064	.	ENSP00000294732:E1493X	E	-	1	0	ASPM	195328867	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.237000	0.08990	-0.258000	0.09446	0.591000	0.81541	GAA		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	579	1	0	0.00307968	0.038147	0.00519696	6	579					A	197062244	C	A	197062244	4	1	76	1	0	0	0	0	0	1	0	0	1057	835	29	3	1233	3	ASPM	1	197062244	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	30159	197062244	52188377	19	9894											
SYT2	127833	broad.mit.edu	37	chr1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-													ctttgcccttctccttcttgTtcttcttcttcttgcagcag							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_ENST00000367268.4_In_Frame_Del_p.K93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		9	534						9	534	---	---	---	---	-	202573649	TTC	-	202573647	7	5	76	1	0	1	0	1	0	0	0	0	15526	1725	60	0	1006	0	SYT2	1	202573647	In_Frame_Del	DEL	TTC	TCGA-HZ-A8P0-01A-11D-A36O-08	5511403	202573647	46676974	20	9895											
MYBPH	4608	broad.mit.edu	37	chr1	203138179	203138179	+	Silent	SNP	G	G	A													agggcgcggtatttggggttGccctggatctccatcttgtt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138179G>A	ENST00000255416.4	-	9	1329	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATTTGGGGTTGCCCTGGATCT	0.562																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(1270-1272)ggC>ggT		myosin binding protein H							96	99	98					1																	203138179		2203	4300	6503	SO:0001819	synonymous_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138179G>A	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1272C>T	1.37:g.203138179G>A							p.G424G	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	9	1329	-			424			Ig-like C2-type 2.		Q16886|Q86YC5	Silent	SNP	ENST00000255416.4	37	c.1272C>T	CCDS30975.1																																																																																				0.562	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		78	563	0	0	0	0.139131	0	78	563					A	203138179	G	A	203138179	2	1	76	1	0	0	0	0	0	0	0	1	10055	1306	46	2		2	MYBPH	1	203138179	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	564532	203138179	46112442	21	9896	64	2									
MYBPH	4608	broad.mit.edu	37	chr1	203138180	203138180	+	Missense_Mutation	SNP	C	C	T													gggcgcggtatttggggttgCcctggatctccatcttgttt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138180C>T	ENST00000255416.4	-	9	1328	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTTGGGGTTGCCCTGGATCTC	0.567																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(1270-1272)gGc>gAc		myosin binding protein H							96	99	98					1																	203138180		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138180C>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1271G>A	1.37:g.203138180C>T	ENSP00000255416:p.Gly424Asp						p.G424D	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	9	1328	-			424			Ig-like C2-type 2.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.1271G>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072135	0.20147	.	.	ENSG00000133055	ENST00000255416	T	0.66099	-0.19	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	T	0.33294	0.0858	N	0.04724	-0.175	0.44155	D	0.996955	B	0.23377	0.084	B	0.26614	0.071	T	0.35549	-0.9784	10	0.02654	T	1	.	6.983	0.24713	0.0:0.7879:0.0:0.2121	.	424	Q13203	MYBPH_HUMAN	D	424	ENSP00000255416:G424D	ENSP00000255416:G424D	G	-	2	0	MYBPH	201404803	1.000000	0.71417	0.947000	0.38551	0.879000	0.50718	5.802000	0.69122	2.492000	0.84095	0.655000	0.94253	GGC		0.567	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		75	555	0	0	0	0.139131	0	75	555					T	203138180	C	T	203138180	3	4	76	1	0	0	0	0	1	0	0	0	10055	739	26	2	170	2	MYBPH	1	203138180	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1	203138180	46112441	22	9897	64	2									
USH2A	7399	broad.mit.edu	37	chr1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttgttgtgtcgcagttatCggcatgaccatggcactgac	12	10	0	2	rs375741757		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:216495296C>T	ENST00000307340.3	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000366943.2_Missense_Mutation_p.D525N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1573-1575)Gat>Aat		Usher syndrome 2A (autosomal recessive, mild)		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	152	135	141		1573,1573	-0.1	0	1		141	1,8599		0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	525/1547,525/5203	216495296	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216495296C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1573G>A	1.37:g.216495296C>T	ENSP00000305941:p.Asp525Asn	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000307340.3_Missense_Mutation_p.D525N	p.D525N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	9	1959	-			525			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1573G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803455	0.31869	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63417	-0.04;-0.04;-0.04	5.65	-0.114	0.13564	EGF-like, laminin (3);	0.531595	0.15476	N	0.260375	T	0.42517	0.1206	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.20368	0.021;0.044	B;B	0.14023	0.009;0.01	T	0.24728	-1.0152	10	0.37606	T	0.19	.	8.3498	0.32295	0.0:0.6291:0.1083:0.2626	.	525;525	O75445-2;O75445	.;USH2A_HUMAN	N	525	ENSP00000305941:D525N;ENSP00000355910:D525N;ENSP00000355909:D525N	ENSP00000305941:D525N	D	-	1	0	USH2A	214561919	0.100000	0.21855	0.000000	0.03702	0.160000	0.22226	1.178000	0.31981	0.053000	0.16036	0.557000	0.71058	GAT		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		43	342	0	0	0	0.139131	0	43	342					T	216495296	C	T	216495296	3	4	76	1	0	0	0	0	1	0	0	0	17090	884	31	1	14305	1	USH2A	1	216495296	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	13357116	216495296	32755325	23	9898											
DISP1	84976	broad.mit.edu	37	chr1	223176847	223176847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccatttcagaagcatctcGaatttttttcgaaaaagtat	6	7	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:223176847G>T	ENST00000284476.6	+	8	2272	c.2108G>T	c.(2107-2109)cGa>cTa	p.R703L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	703					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAGCATCTCGAATTTTTTTC	0.418																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(2107-2109)cGa>cTa		dispatched homolog 1 (Drosophila)							128	129	129					1																	223176847		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176847G>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2108G>T	1.37:g.223176847G>T	ENSP00000284476:p.Arg703Leu						p.R703L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2272	+			703					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2108G>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711729	0.68730	.	.	ENSG00000154309	ENST00000284476	D	0.86030	-2.06	5.91	5.91	0.95273	.	0.104774	0.64402	D	0.000005	D	0.91195	0.7226	L	0.59436	1.845	0.54753	D	0.999989	D	0.61697	0.99	D	0.69307	0.963	D	0.90102	0.4185	10	0.49607	T	0.09	-28.8962	20.2983	0.98569	0.0:0.0:1.0:0.0	.	703	Q96F81	DISP1_HUMAN	L	703	ENSP00000284476:R703L	ENSP00000284476:R703L	R	+	2	0	DISP1	221243470	1.000000	0.71417	0.236000	0.24074	0.984000	0.73092	6.665000	0.74442	2.802000	0.96397	0.655000	0.94253	CGA		0.418	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	860	1	0	0.0381472	0.038147	0.0586695	8	860					T	223176847	G	T	223176847	3	4	76	1	0	0	0	0	1	0	0	0	4555	1058	37	3	2134	3	DISP1	1	223176847	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	6681551	223176847	26073774	24	9899											
TTC13	79573	broad.mit.edu	37	chr1	231044752	231044752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtgctcccacgatgaccGagtaagcaattacactattt	7	11	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:231044752G>A	ENST00000366661.4	-	21	2331	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	TTC13_ENST00000366662.4_Missense_Mutation_p.S721L|TTC13_ENST00000414259.1_Missense_Mutation_p.S722L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	775										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CACGATGACCGAGTAAGCAAT	0.423																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2323-2325)tCg>tTg		tetratricopeptide repeat domain 13							120	124	123					1																	231044752		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231044752G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2324C>T	1.37:g.231044752G>A	ENSP00000355621:p.Ser775Leu					TTC13_ENST00000414259.1_Missense_Mutation_p.S722L|TTC13_ENST00000366662.4_Missense_Mutation_p.S721L	p.S775L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	21	2331	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	775					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.2324C>T	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262382	0.59431	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.42900	0.96;1.0;1.0	5.53	5.53	0.82687	.	0.063181	0.64402	D	0.000003	T	0.30324	0.0761	N	0.25647	0.755	0.80722	D	1	B;P;P;P	0.50066	0.343;0.76;0.846;0.931	B;B;B;B	0.34652	0.009;0.122;0.187;0.184	T	0.11372	-1.0590	10	0.40728	T	0.16	-11.9623	19.4529	0.94875	0.0:0.0:1.0:0.0	.	700;722;721;775	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	L	775;721;722	ENSP00000355621:S775L;ENSP00000355622:S721L;ENSP00000416631:S722L	ENSP00000355621:S775L	S	-	2	0	TTC13	229111375	1.000000	0.71417	0.972000	0.41901	0.954000	0.61252	8.920000	0.92779	2.595000	0.87683	0.655000	0.94253	TCG		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		74	579	0	0	0	0.139131	0	74	579					A	231044752	G	A	231044752	3	1	76	1	0	0	0	0	1	0	0	0	16734	1059	37	1	270	1	TTC13	1	231044752	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	7867905	231044752	18205869	25	9900											
OR2M5	127059	broad.mit.edu	37	chr1	248309316	248309316	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatgctgaatcccctcatCtacagcctccgcaacaagga	6	17	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248309316C>A	ENST00000366476.1	+	1	867	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCCCCTCATCTACAGCCTCC	0.493																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(865-867)atC>atA		olfactory receptor, family 2, subfamily M, member 5							90	83	85					1																	248309316		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309316C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.867C>A	1.37:g.248309316C>A							p.I289I	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	867	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		289						Silent	SNP	ENST00000366476.1	37	c.867C>A	CCDS31105.1																																																																																				0.493	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		99	610	1	0	3.26951e-42	0.139131	5.97362e-42	99	610					A	248309316	C	A	248309316	2	1	76	1	0	0	0	0	0	0	0	1	11055	903	32	3		3	OR2M5	1	248309316	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	17264564	248309316	941305	26	9901											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg					rs372045862		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45	47	46					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		10	518						10	518	---	---	---	---	-	248437112	T	-	248437112	7	5	76	1	0	1	0	1	0	0	0	0	11066	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08	127796	248437112	813509	27	9902											
PXDN	7837	broad.mit.edu	37	chr2	1651971	1651971	+	Frame_Shift_Del	DEL	T	T	-													gtttctcccggatctcagggTttttaatctcatttttcagg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:1651971delT	ENST00000252804.4	-	17	3631	c.3581delA	c.(3580-3582)aacfs	p.N1194fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1194					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATCTCAGGGTTTTTAATCTC	0.552																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3580-3582)acfs		peroxidasin homolog (Drosophila)							114	123	120					2																	1651971		1974	4152	6126	SO:0001589	frameshift_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651971delT	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3581delA	2.37:g.1651971delT	ENSP00000252804:p.Asn1194fs						p.N1194fs	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3631	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1194					A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Del	DEL	ENST00000252804.4	37	c.3581delA	CCDS46221.1																																																																																				0.552	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		7	1055						7	1055	---	---	---	---	-	1651971	T	-	1651971	7	5	76	1	0	1	0	1	0	0	0	0	12897	1725	60	0	886	0	PXDN	2	1651971	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08		1651971	241547402	28	9903											
APOB	338	broad.mit.edu	37	chr2	21228307	21228307	+	Frame_Shift_Del	DEL	A	A	-													gattcaggcacggttatctcAaaaaagggaatcaaggagtc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:21228307delA	ENST00000233242.1	-	26	11560	c.11433delT	c.(11431-11433)tttfs	p.F3811fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3811					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)			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)					CGGTTATCTCAAAAAAGGGAA	0.428																																						ENST00000233242.1																			0				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						c.(11431-11433)ttfs		apolipoprotein B	Atorvastatin(DB01076)						158	157	157					2																	21228307		2203	4300	6503	SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228307delA	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.11433delT	2.37:g.21228307delA	ENSP00000233242:p.Phe3811fs						p.F3811fs	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11560	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3811					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.11433delT	CCDS1703.1																																																																																				0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	891						7	891	---	---	---	---	-	21228307	A	-	21228307	7	5	76	1	0	1	0	1	0	0	0	0	785	127	5	0	2274	0	APOB	2	21228307	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P0-01A-11D-A36O-08	19576336	21228307	221971066	29	9904											
FAM98A	25940	broad.mit.edu	37	chr2	33813402	33813402	+	Splice_Site	DEL	T	T	-													tttggtactaaaggtcttacTtttttttcaatcccgctgaa							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:33813402delT	ENST00000238823.8	-	4	662	c.522delA	c.(520-522)aaa>aa	p.K174fs	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000403368.1_Splice_Site_p.K174fs			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	174							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.e4+1		family with sequence similarity 98, member A							158	159	159					2																	33813402		2203	4300	6503	SO:0001630	splice_region_variant	25940							g.chr2:33813402delT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.522+1A>-	2.37:g.33813402delT						FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice	p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			4	591	-	all_hematologic(175;0.115)		175					B2RNA2|Q9Y3Y6	Splice_Site	DEL	ENST00000238823.8	37	c.522_splice	CCDS33179.1																																																																																				0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	Frame_Shift_Del	9	475						9	475	---	---	---	---	-	33813402	T	-	33813402	8	5	76	1	0	1	0	1	0	0	1	0	5681	1623	56	0	1054	0	FAM98A	2	33813402	Splice_Site	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08	12585095	33813402	209385971	30	9905											
CD207	50489	broad.mit.edu	37	chr2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgccctggagtgcccGgatctttgtatttaaagcac	10	11	1	0	rs370455494		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(514-516)Cgg>Tgg		CD207 molecule, langerin		G	TRP/ARG	0,3698		0,0,1849	82	73	75		514	4.1	0	2		75	1,8199		0,1,4099	no	missense	CD207	NM_015717.3	101	0,1,5948	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	172/329	71060828	1,11897	1849	4100	5949	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060828G>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.514C>T	2.37:g.71060828G>A	ENSP00000386378:p.Arg172Trp						p.R172W	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			3	559	-			172						Missense_Mutation	SNP	ENST00000410009.3	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	G	6.526	0.465360	0.12402	0.0	1.22E-4	ENSG00000116031	ENST00000410009	T	0.29917	1.55	4.12	4.12	0.48240	.	1.382280	0.04510	N	0.382668	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	B	0.39590	0.304	T	0.32719	-0.9896	10	0.59425	D	0.04	.	12.1703	0.54155	0.0:0.0:1.0:0.0	.	172	Q9UJ71	CLC4K_HUMAN	W	172	ENSP00000386378:R172W	ENSP00000386378:R172W	R	-	1	2	CD207	70914336	0.043000	0.20138	0.029000	0.17559	0.004000	0.04260	1.111000	0.31159	2.568000	0.86640	0.655000	0.94253	CGG		0.428	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		45	196	0	0	0	0.139131	0	45	196					A	71060828	G	A	71060828	3	1	76	1	0	0	0	0	1	0	0	0	2992	1115	39	1	488	1	CD207	2	71060828	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	37247426	71060828	172138545	31	9906											
C2orf51	200523	broad.mit.edu	37	chr2	88828905	88828905	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaaggctacctgctActgccagggtgtccctgtct	11	13	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:88828905A>G	ENST00000303254.3	+	4	598	c.456A>G	c.(454-456)ctA>ctG	p.L152L		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	152						nucleus (GO:0005634)											GCTACCTGCTACTGCCAGGGT	0.552																																						ENST00000303254.3																			0											c.(454-456)ctA>ctG		testis expressed 37							91	84	86					2																	88828905		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88828905A>G	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.456A>G	2.37:g.88828905A>G							p.L152L	NM_152670.2	NP_689883.1					4	598	+									Silent	SNP	ENST00000303254.3	37	c.456A>G	CCDS2003.1																																																																																				0.552	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		64	248	0	0	0	0.139131	0	64	248					G	88828905	A	G	88828905	2	3	76	1	0	0	0	0	0	0	0	1	2180	378	14	4		4	C2orf51	2	88828905	Silent	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	17768077	88828905	154370468	32	9907											
RGPD5	727851	broad.mit.edu	37	chr2	113181886	113181887	+	Splice_Site	INS	-	-	A													gaatcctttcattgacttctINSaaaaaaaaattaaaagttgt					rs375647001	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	8	766						8	766	---	---	---	---	A	113181887	-	A	113181886	8	5	76	1	0	1	1	0	0	0	1	0	13339	1536	53	0	16328	0	RGPD5	2	113181886	Splice_Site	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08	24352981	113181886	130017487	33	9908											
CXCR4	7852	broad.mit.edu	37	chr2	136873279	136873279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagcctgtacttgtcCgtcatgcttctcagtttctt	9	11	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:136873279C>T	ENST00000241393.3	-	2	323	c.219G>A	c.(217-219)acG>acA	p.T73T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.T77T	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	73					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.T77T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGTACTTGTCCGTCATGCTTC	0.517																																						ENST00000409817.1																			1	Substitution - coding silent(1)	p.T77T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(229-231)acG>acA		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						188	179	182					2																	136873279		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873279C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.219G>A	2.37:g.136873279C>T						CXCR4_ENST00000241393.3_Silent_p.T73T|CXCR4_ENST00000466288.1_5'UTR	p.T77T	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	534	-			73					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	37	c.231G>A	CCDS46420.1																																																																																				0.517	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			76	346	0	0	0	0.139131	0	76	346					T	136873279	C	T	136873279	2	4	76	1	0	0	0	0	0	0	0	1	4104	639	23	1		1	CXCR4	2	136873279	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	23691393	136873279	106326094	34	9909											
NEB	4703	broad.mit.edu	37	chr2	152466350	152466350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcataggcctttttTgcttggataatgtcgttttg	11	6	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:152466350T>C	ENST00000172853.10	-	77	11721	c.11574A>G	c.(11572-11574)gcA>gcG	p.A3858A	NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000397345.3_Silent_p.A4101A|NEB_ENST00000409198.1_Silent_p.A3858A			P20929	NEBU_HUMAN	nebulin	3858					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)			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)		AGGCCTTTTTTGCTTGGATAA	0.448																																						ENST00000397345.3																			0				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						c.(12301-12303)gcA>gcG		nebulin							210	197	201					2																	152466350		1952	4143	6095	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466350T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11574A>G	2.37:g.152466350T>C						NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000172853.10_Silent_p.A3858A	p.A4101A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12505	-			4100					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.12303A>G																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		116	504	0	0	0	0.139131	0	116	504					C	152466350	T	C	152466350	2	2	76	1	0	0	0	0	0	0	0	1	10344	1799	63	4		4	NEB	2	152466350	Silent	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	15593071	152466350	90733023	35	9910											
SCN1A	6323	broad.mit.edu	37	chr2	166911170	166911170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaatgtaatgacagtgaaatCgagccagttccatggatccc	9	9	0	2	rs121917935		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:166911170C>A	ENST00000303395.4	-	4	579	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	194			D -> N (in EIEE6; dbSNP:rs121917935). {ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:19589774}.		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)			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)	ACAGTGAAATCGAGCCAGTTC	0.338																																						ENST00000423058.2																			0				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	GRCh37	CM067004	SCN1A	M	rs121917935	c.(580-582)Gat>Tat		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						67	70	69					2																	166911170		2202	4299	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166911170C>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.580G>T	2.37:g.166911170C>A	ENSP00000303540:p.Asp194Tyr					SCN1A_ENST00000303395.4_Missense_Mutation_p.D194Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.D194Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			4	597	-			194		D -> N (in SMEI; dbSNP:rs121917935).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.580G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620307	0.87460	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99837	0.9926	H	0.99855	4.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;1.0;0.999	D	0.96333	0.9245	10	0.87932	D	0	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	194;194;194	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	194	ENSP00000407030:D194Y;ENSP00000303540:D194Y;ENSP00000364554:D194Y;ENSP00000386312:D194Y	ENSP00000303540:D194Y	D	-	1	0	SCN1A	166619416	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.726000	0.84824	2.597000	0.87782	0.561000	0.74099	GAT		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	267	1	0	0.184627	0.184627	0.26547	5	267					A	166911170	C	A	166911170	3	1	76	1	0	0	0	0	1	0	0	0	13964	884	31	3	5541	3	SCN1A	2	166911170	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	14444820	166911170	76288203	36	9911											
ITGAV	3685	broad.mit.edu	37	chr2	187506230	187506230	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttcaggagacttccagacGacaaagctgaatggatttga	11	8	1	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:187506230G>T	ENST00000261023.3	+	12	1348	c.1074G>T	c.(1072-1074)acG>acT	p.T358T	ITGAV_ENST00000433736.2_Silent_p.T312T|ITGAV_ENST00000374907.3_Silent_p.T322T|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	358					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTTCCAGACGACAAAGCTGA	0.498																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1072-1074)acG>acT		integrin, alpha V							202	198	199					2																	187506230		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506230G>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1074G>T	2.37:g.187506230G>T						ITGAV_ENST00000433736.2_Silent_p.T312T|ITGAV_ENST00000374907.3_Silent_p.T322T|AC017101.10_ENST00000453665.1_RNA	p.T358T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1348	+			358					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.1074G>T	CCDS2292.1																																																																																				0.498	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		7	816	1	0	0.0581538	0.058154	0.0866955	7	816					T	187506230	G	T	187506230	2	4	76	1	0	0	0	0	0	0	0	1	7918	1045	37	3		3	ITGAV	2	187506230	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	20595060	187506230	55693143	37	9912											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		8	1534						8	1534	---	---	---	---	-	219134766	G	-	219134766	7	5	76	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HZ-A8P0-01A-11D-A36O-08	31628536	219134766	24064607	38	9913											
SPHKAP	80309	broad.mit.edu	37	chr2	228860288	228860288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttgtcttcctcattgGcaagctgggtccagctgcct	12	12	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:228860288G>A	ENST00000392056.3	-	8	4617	c.4571C>T	c.(4570-4572)gCc>gTc	p.A1524V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1524						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTCATTGGCAAGCTGGGT	0.572																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4570-4572)gCc>gTc		SPHK1 interactor, AKAP domain containing							187	159	168					2																	228860288		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860288G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4571C>T	2.37:g.228860288G>A	ENSP00000375909:p.Ala1524Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4617	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1524					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4571C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664572	0.47572	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.56	6.06	4.04	0.47022	.	0.287377	0.39020	N	0.001482	T	0.14227	0.0344	L	0.49126	1.545	0.43292	D	0.995273	B;P	0.42908	0.18;0.793	B;B	0.39971	0.044;0.315	T	0.02596	-1.1136	10	0.48119	T	0.1	.	11.0015	0.47609	0.1936:0.0:0.8064:0.0	.	1524;1524	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	1524	ENSP00000375909:A1524V;ENSP00000339886:A1524V	ENSP00000339886:A1524V	A	-	2	0	SPHKAP	228568532	1.000000	0.71417	0.908000	0.35775	0.542000	0.35054	2.352000	0.44080	1.570000	0.49709	0.655000	0.94253	GCC		0.572	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	580	0	0	0	0.038147	0	7	580					A	228860288	G	A	228860288	3	1	76	1	0	0	0	0	1	0	0	0	15100	1203	42	2	551	2	SPHKAP	2	228860288	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	9725522	228860288	14339085	39	9914											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		12	631						12	631	---	---	---	---	-	49321971	TCT	-	49321969	7	5	76	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-HZ-A8P0-01A-11D-A36O-08		49321969	148700461	40	9915											
SEC62	7095	broad.mit.edu	37	chr3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A													agacaaaaaaagaaaaagagINSaaaaaaaaagatggtgaaaa							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(421-423)aaafs	p.K141fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K141fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	141					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(418-423)gaaaaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700663_169700664insA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.429dupA	3.37:g.169700672_169700672dupA	ENSP00000337688:p.Lys141fs					SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	p.EK140fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	478_479	+			140					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.420_421insA	CCDS3210.1																																																																																				0.277	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			7	171						7	171	---	---	---	---	A	169700664	-	A	169700663	7	5	76	1	0	1	1	0	0	0	0	0	14054	933	33	0	434	0	SEC62	3	169700663	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08	120378694	169700663	28321767	41	9916											
GAR1	54433	broad.mit.edu	37	chr4	110740164	110740164	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaaataatagtatttttCagttaagttgtcagaaaaca	6	3	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:110740164C>A	ENST00000226796.6	+	4	641	c.377C>A	c.(376-378)tCa>tAa	p.S126*	GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(376-378)tCa>tAa		GAR1 ribonucleoprotein							78	84	82					4																	110740164		2202	4299	6501	SO:0001587	stop_gained	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110740164C>A	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.377C>A	4.37:g.110740164C>A	ENSP00000226796:p.Ser126*					GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			4	641	+			126					Q5MJQ2	Nonsense_Mutation	SNP	ENST00000226796.6	37	c.377C>A	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	C	38	7.040121	0.98021	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9407	0.92604	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000226796:S126X	S	+	2	0	GAR1	110959613	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.681000	0.74523	2.573000	0.86826	0.591000	0.81541	TCA		0.299	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			10	403	1	0	0.000442599	0.058154	0.000768226	10	403					A	110740164	C	A	110740164	4	1	76	1	0	0	0	0	0	1	0	0	6268	838	29	3	387	3	GAR1	4	110740164	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		110740164	80414112	42	9917											
PLRG1	5356	broad.mit.edu	37	chr4	155458483	155458483	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggttttatcagcttcAgctgttagtaatcgactttc	7	7	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:155458483A>C	ENST00000499023.2	-	14	1566	c.1440T>G	c.(1438-1440)gcT>gcG	p.A480A	PLRG1_ENST00000393905.2_Silent_p.A480A|PLRG1_ENST00000302078.5_Silent_p.A471A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	480					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATCAGCTTCAGCTGTTAGTA	0.408																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(1438-1440)gcT>gcG		pleiotropic regulator 1							110	108	109					4																	155458483		2203	4300	6503	SO:0001819	synonymous_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155458483A>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1440T>G	4.37:g.155458483A>C						PLRG1_ENST00000393905.2_Silent_p.A480A|PLRG1_ENST00000302078.5_Silent_p.A471A	p.A480A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			14	1566	-	all_hematologic(180;0.215)	Renal(120;0.0854)	480					B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	c.1440T>G	CCDS34083.1																																																																																				0.408	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		52	265	0	0	0	0.139131	0	52	265					C	155458483	A	C	155458483	2	2	76	1	0	0	0	0	0	0	0	1	12148	175	7	4		4	PLRG1	4	155458483	Silent	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	44718319	155458483	35695793	43	9918											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	908	0	0	0	0.217242	0	7	908					A	186544317	G	A	186544317	3	1	76	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	31085834	186544317	4609959	44	9919											
SORBS2	8470	broad.mit.edu	37	chr4	186544436	186544436	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtctgtttcttaggagccGaattttttttcctccggaaa	8	9	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544436G>T	ENST00000284776.7	-	13	2644	c.2135C>A	c.(2134-2136)tCg>tAg	p.S712*	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Nonsense_Mutation_p.S712*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	712					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTTAGGAGCCGAATTTTTTTT	0.448																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2134-2136)tCg>tAg		sorbin and SH3 domain containing 2							126	139	135					4																	186544436		2203	4300	6503	SO:0001587	stop_gained	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544436G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2135C>A	4.37:g.186544436G>T	ENSP00000284776:p.Ser712*					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.S712*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*	p.S712*			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2698	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	712					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Nonsense_Mutation	SNP	ENST00000284776.7	37	c.2135C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837571	0.97009	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	.	.	.	5.88	5.0	0.66597	.	0.741300	0.13760	N	0.364655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1252	11.2173	0.48833	0.0951:0.0:0.9049:0.0	.	.	.	.	X	712;712;616;812	.	ENSP00000284776:S712X	S	-	2	0	SORBS2	186781430	0.872000	0.30054	0.002000	0.10522	0.045000	0.14185	4.786000	0.62425	1.371000	0.46172	0.561000	0.74099	TCG		0.448	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	767	1	0	0.0293803	0.02938	0.0463599	7	767					T	186544436	G	T	186544436	4	4	76	1	0	0	0	0	0	1	0	0	14978	1059	37	3	1203	3	SORBS2	4	186544436	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	119	186544436	4609840	45	9920											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191950	100191950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaaaggacactgtcattCagcatggaaagtctatgcac	8	10	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:100191950C>A	ENST00000231461.5	-	4	964	c.654G>T	c.(652-654)ctG>ctT	p.L218L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	218					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|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)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CACTGTCATTCAGCATGGAAA	0.398																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(652-654)ctG>ctT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							200	180	187					5																	100191950		2203	4300	6503	SO:0001819	synonymous_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191950C>A	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.654G>T	5.37:g.100191950C>A							p.L218L	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	964	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	218					A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	ENST00000231461.5	37	c.654G>T	CCDS4091.1																																																																																				0.398	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		6	435	1	0	0.0293803	0.02938	0.0463599	6	435					A	100191950	C	A	100191950	2	1	76	1	0	0	0	0	0	0	0	1	15286	813	29	3		3	ST8SIA4	5	100191950	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		100191950	80723310	46	9921											
PCDHB8	56128	broad.mit.edu	37	chr5	140559512	140559512	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaccgccaggctgctgagcGagcgcgacgcggccaagcag	16	15	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:140559512G>T	ENST00000239444.2	+	1	2142	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.692																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1897-1899)Gag>Tag									21	24	23					5																	140559512		2016	4026	6042	SO:0001587	stop_gained	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559512G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1897G>T	5.37:g.140559512G>T	ENSP00000239444:p.Glu633*						p.E633*	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2142	+			633			Cadherin 6.		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.1897G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	38	6.935762	0.97948	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.22	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4288	0.50027	0.09:0.0:0.91:0.0	.	.	.	.	X	633	.	ENSP00000239444:E633X	E	+	1	0	PCDHB8	140539696	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.811000	0.55620	0.779000	0.33543	0.298000	0.19748	GAG		0.692	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		5	401	1	0	0.184627	0.184627	0.26547	5	401					T	140559512	G	T	140559512	4	4	76	1	0	0	0	0	0	1	0	0	11590	1059	37	3	1899	3	PCDHB8	5	140559512	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	40367562	140559512	40355748	47	9922											
FAT2	2196	broad.mit.edu	37	chr5	150947407	150947407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actctgtaaacagccttctcGaatttgagggaagacagttt	9	8	2	2	rs200331562		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:150947407G>T	ENST00000261800.5	-	1	1098	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					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)			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)			CAGCCTTCTCGAATTTGAGGG	0.547																																						ENST00000261800.5																			0				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						c.(1084-1086)ttC>ttA		FAT atypical cadherin 2							75	81	79					5																	150947407		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.chr5:150947407G>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.1086C>A	5.37:g.150947407G>T	ENSP00000261800:p.Phe362Leu						p.F362L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1098	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	362					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1086C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097914	0.56075	.	.	ENSG00000086570	ENST00000261800	T	0.65178	-0.14	5.49	-3.3	0.05003	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.73697	0.3620	M	0.79123	2.44	0.49915	D	0.999835	D	0.76494	0.999	D	0.79108	0.992	T	0.73636	-0.3920	10	0.54805	T	0.06	.	12.1639	0.54119	0.6671:0.0:0.3329:0.0	.	362	Q9NYQ8	FAT2_HUMAN	L	362	ENSP00000261800:F362L	ENSP00000261800:F362L	F	-	3	2	FAT2	150927600	0.783000	0.28701	0.420000	0.26596	0.667000	0.39255	0.121000	0.15667	-0.646000	0.05452	-0.997000	0.02515	TTC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		6	466	1	0	0.217242	0.217242	0.299942	6	466					T	150947407	G	T	150947407	3	4	76	1	0	0	0	0	1	0	0	0	5715	1049	37	3	12055	3	FAT2	5	150947407	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	10387895	150947407	29967853	48	9923											
BRD2	6046	broad.mit.edu	37	chr6	32945220	32945220	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcctccttctgcagcGgaagatggagaaccgtgatt	12	10	1	3			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32945220G>A	ENST00000374825.4	+	8	2903	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	BRD2_ENST00000395289.2_Splice_Site_p.R401Q|BRD2_ENST00000374831.4_Splice_Site_p.R401Q|BRD2_ENST00000395287.1_Splice_Site_p.R401Q|BRD2_ENST00000443797.2_Splice_Site_p.R281Q|BRD2_ENST00000449085.2_Splice_Site_p.R354Q	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	401	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTTCTGCAGCGGAAGATGGAG	0.527																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.e8-1		bromodomain containing 2							219	185	197					6																	32945220		1511	2709	4220	SO:0001630	splice_region_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32945220G>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1201-1G>A	6.37:g.32945220G>A						BRD2_ENST00000395287.1_Splice_Site_p.R401_splice|BRD2_ENST00000443797.2_Splice_Site_p.R281_splice|BRD2_ENST00000374831.4_Splice_Site_p.R401_splice|BRD2_ENST00000449085.2_Splice_Site_p.R354_splice|BRD2_ENST00000374825.4_Splice_Site_p.R401_splice	p.R401_splice			P25440	BRD2_HUMAN			8	2803	+			401			Bromo 2.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Splice_Site	SNP	ENST00000374825.4	37	c.1200_splice	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.196084|3.196084	0.58126|0.58126	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Bromodomain (5);Bromodomain, conserved site (1);	.|0.000000	.|0.45606	.|D	.|0.000343	T|T	0.06735|0.06735	0.0172|0.0172	N|N	0.16790|0.16790	0.44|0.44	0.58432|0.58432	D|D	0.999994|0.999994	.|P;B	.|0.38992	.|0.653;0.185	.|B;B	.|0.21708	.|0.036;0.012	T|T	0.13202|0.13202	-1.0518|-1.0518	5|10	.|0.33141	.|T	.|0.24	-13.4946|-13.4946	9.6958|9.6958	0.40156|0.40156	0.0911:0.0:0.9089:0.0|0.0911:0.0:0.9089:0.0	.|.	.|401;401	.|A2AAU0;P25440	.|.;BRD2_HUMAN	R|Q	407|401;401;401;281;401;354	.|ENSP00000363958:R401Q;ENSP00000363964:R401Q;ENSP00000378704:R401Q;ENSP00000413495:R281Q;ENSP00000378702:R401Q;ENSP00000409145:R354Q	.|ENSP00000363958:R401Q	G|R	+|+	1|2	0|0	BRD2|BRD2	33053198|33053198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.760000|1.760000	0.38430|0.38430	2.730000|2.730000	0.93505|0.93505	0.643000|0.643000	0.83706|0.83706	GGA|CGG		0.527	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		Missense_Mutation	5	584	0	0	0	0.217242	0	5	584					A	32945220	G	A	32945220	5	1	76	1	0	0	0	0	0	0	1	0	1506	1130	39	1	1228	1	BRD2	6	32945220	Splice_Site	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		32945220	138169847	49	9924											
KLHL31	401265	broad.mit.edu	37	chr6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttggctggcatttccGtaagcttgctccatccattt	7	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:53519025G>A	ENST00000407079.1	-	1	1045	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M			Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(1045-1047)aCg>aTg		kelch-like family member 31							105	100	102					6																	53519025		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519025G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1046C>T	6.37:g.53519025G>A	ENSP00000384644:p.Thr349Met					KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	1186	-	Lung NSC(77;0.0158)		349					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1046C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453374	0.63290	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.095468	0.64402	D	0.000001	T	0.75852	0.3906	M	0.82716	2.605	0.58432	D	0.999994	D	0.76494	0.999	P	0.57283	0.817	T	0.80621	-0.1301	10	0.87932	D	0	.	15.4902	0.75600	0.0:0.1482:0.8518:0.0	.	349	Q9H511	KLH31_HUMAN	M	349	ENSP00000359942:T349M;ENSP00000384644:T349M	ENSP00000359942:T349M	T	-	2	0	KLHL31	53626984	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	ACG		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		6	421	0	0	0	0.217242	0	6	421					A	53519025	G	A	53519025	3	1	76	1	0	0	0	0	1	0	0	0	8415	1145	40	1	866	1	KLHL31	6	53519025	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	20573805	53519025	117596042	50	9925											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	529						8	529	---	---	---	---	-	88144700	A	-	88144700	7	5	76	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P0-01A-11D-A36O-08	34625675	88144700	82970367	51	9926											
REV3L	5980	broad.mit.edu	37	chr6	111709251	111709251	+	Frame_Shift_Del	DEL	T	T	-													tcctgaagtctcttctgaaaTtttttttcactttctgttgc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:111709251delT	ENST00000358835.3	-	9	1354	c.900delA	c.(898-900)aaafs	p.K300fs	REV3L_ENST00000435970.1_Frame_Shift_Del_p.K222fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	300					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCTGAAATTTTTTTTCAC	0.284								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(664-666)aafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							52	55	54					6																	111709251		2202	4297	6499	SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111709251delT	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.900delA	6.37:g.111709251delT	ENSP00000351697:p.Lys300fs					REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs	p.K222fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1482	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	300					O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	c.666delA	CCDS5091.2																																																																																				0.284	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	477						7	477	---	---	---	---	-	111709251	T	-	111709251	7	5	76	1	0	1	0	1	0	0	0	0	13290	1490	52	0	8592	0	REV3L	6	111709251	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08	23564551	111709251	59405816	52	9927											
PTPRK	5796	broad.mit.edu	37	chr6	128294292	128294292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagaacatgccacttcgccCgccaccatttctgaaagcaa	6	15	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:128294292C>A	ENST00000368215.3	-	29	4140	c.4141G>T	c.(4141-4143)Ggg>Tgg	p.G1381W	PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368227.3_Missense_Mutation_p.G1399W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1381	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACTTCGCCCGCCACCATTT	0.428																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4195-4197)Ggg>Tgg		protein tyrosine phosphatase, receptor type, K							98	97	97					6																	128294292		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294292C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4141G>T	6.37:g.128294292C>A	ENSP00000357198:p.Gly1381Trp					PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1381W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W	p.G1399W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	30	4561	-			1381			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4195G>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.517548	0.85495	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.52	5.52	0.82312	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	H	0.98936	4.375	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	0.83626	0.0142	10	0.87932	D	0	.	19.7822	0.96420	0.0:1.0:0.0:0.0	.	1404;1388;1381;1382	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1382;1399;1404;1388;1400;1381;1414	ENSP00000357209:G1382W;ENSP00000357210:G1399W;ENSP00000432973:G1404W;ENSP00000357196:G1388W;ENSP00000357193:G1400W;ENSP00000357198:G1381W;ENSP00000357190:G1414W	ENSP00000357190:G1414W	G	-	1	0	PTPRK	128335985	1.000000	0.71417	0.945000	0.38365	0.728000	0.41692	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	GGG		0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			6	303	1	0	0.0381472	0.038147	0.0586695	6	303					A	128294292	C	A	128294292	3	1	76	1	0	0	0	0	1	0	0	0	12855	652	23	3	186	3	PTPRK	6	128294292	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	16585041	128294292	42820775	53	9928											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199962	138199962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggggcctcattcggcCccaccgacagcacccagccc	11	19	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:138199962C>T	ENST00000237289.4	+	7	1446	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	460	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCATTCGGCCCCACCGACAG	0.642			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		26	Whole gene deletion(25)|Deletion - Frameshift(1)	p.0?(25)|p.P450fs*21(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1378-1380)gcC>gcT		tumor necrosis factor, alpha-induced protein 3							24	27	26					6																	138199962		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138199962C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1380C>T	6.37:g.138199962C>T							p.A460A	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1446	+	Breast(32;0.135)|Colorectal(23;0.24)		460			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1380C>T	CCDS5187.1																																																																																				0.642	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			28	168	0	0	0	0.134883	0	28	168					T	138199962	C	T	138199962	2	4	76	1	0	0	0	0	0	0	0	1	16326	610	22	2		2	TNFAIP3	6	138199962	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	9905670	138199962	32915105	54	9929											
MPP6	51678	broad.mit.edu	37	chr7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A													tttgtggaactataagtagcINSaaaaaaaagaaaaagatgat							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:24705665_24705666insA	ENST00000222644.5	+	8	1159_1160	c.909_910insA	c.(910-912)aaafs	p.K304fs	MPP6_ENST00000396475.2_Frame_Shift_Ins_p.K304fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.K192fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(907-912)agaaaafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705665_24705666insA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.917dupA	7.37:g.24705673_24705673dupA	ENSP00000222644:p.Lys304fs					MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs	p.RK303fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1208_1209	+			303					B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.909_910insA	CCDS5388.1																																																																																				0.302	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	865						7	865	---	---	---	---	A	24705666	-	A	24705665	7	5	76	1	0	1	1	0	0	0	0	0	9779	709	25	0	935	0	MPP6	7	24705665	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08		24705665	134432998	55	9930											
TNS3	64759	broad.mit.edu	37	chr7	47407972	47407972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcaccttgccgcccGgtggccctgctggggccctc	12	20	1	0	rs373110561		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2269-2271)acC>acT		tensin 3		G		0,3952		0,0,1976	93	106	102		2271	-7.5	0	7		102	1,8307		0,1,4153	no	coding-synonymous	TNS3	NM_022748.11		0,1,6129	AA,AG,GG		0.012,0.0,0.0082		757/1446	47407972	1,12259	1976	4154	6130	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47407972G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2271C>T	7.37:g.47407972G>A						TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T	p.T757T			Q68CZ2	TENS3_HUMAN			17	2637	-			757					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.2271C>T	CCDS5506.2																																																																																				0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		6	787	0	0	0	0.217242	0	6	787					A	47407972	G	A	47407972	2	1	76	1	0	0	0	0	0	0	0	1	16396	1103	39	1		1	TNS3	7	47407972	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	22702307	47407972	111730691	56	9931											
ZDHHC2	51201	broad.mit.edu	37	chr8	17067927	17067927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctcctttccaacttgCcttgttaaccaggatcctga	8	13	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:17067927C>T	ENST00000262096.8	+	10	1583	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	296					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTCCAACTTGCCTTGTTAACC	0.368																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(886-888)tgC>tgT		zinc finger, DHHC-type containing 2							79	74	75					8																	17067927		1833	4105	5938	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17067927C>T	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.888C>T	8.37:g.17067927C>T							p.C296C	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	10	1583	+			296					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.888C>T	CCDS47810.1																																																																																				0.368	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		4	161	0	0	0	0.184627	0	4	161					T	17067927	C	T	17067927	2	4	76	1	0	0	0	0	0	0	0	1	17663	747	26	2		2	ZDHHC2	8	17067927	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		17067927	129296095	57	9932											
RIMS2	9699	broad.mit.edu	37	chr8	105026833	105026833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttccaccaaagggaacGttggatagaagtaagtttta	10	7	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:105026833G>A	ENST00000436393.2	+	17	2785	c.2544G>A	c.(2542-2544)acG>acA	p.T848T	RIMS2_ENST00000507740.1_Silent_p.T922T|RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000406091.3_Silent_p.T1108T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1170	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CAAAGGGAACGTTGGATAGAA	0.438										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(2764-2766)acG>acA		regulating synaptic membrane exocytosis 2							72	74	74					8																	105026833		1895	4110	6005	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026833G>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.2544G>A	8.37:g.105026833G>A		HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000436393.2_Silent_p.T848T|RIMS2_ENST00000406091.3_Silent_p.T1108T	p.T922T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	3002	+			1170					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.2766G>A																																																																																					0.438	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		48	185	0	0	0	0.139131	0	48	185					A	105026833	G	A	105026833	2	1	76	1	0	0	0	0	0	0	0	1	13418	1132	40	1		1	RIMS2	8	105026833	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	87958906	105026833	41337189	58	9933											
FAM83H	286077	broad.mit.edu	37	chr8	144812372	144812372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcggggggcggtggCtgcaccaaggtggtcacctc	19	11	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:144812372C>T	ENST00000388913.3	-	2	506	c.381G>A	c.(379-381)caG>caA	p.Q127Q	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	127					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCGGTGGCTGCACCAAGG	0.642																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(379-381)caG>caA		family with sequence similarity 83, member H							30	35	34					8																	144812372		2015	4157	6172	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144812372C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.381G>A	8.37:g.144812372C>T							p.Q127Q	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	506	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		127					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.381G>A	CCDS6410.2																																																																																				0.642	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		38	126	0	0	0	0.235728	0	38	126					T	144812372	C	T	144812372	2	4	76	1	0	0	0	0	0	0	0	1	5665	796	28	2		2	FAM83H	8	144812372	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	39785539	144812372	1551650	59	9934											
ZNF7	7553	broad.mit.edu	37	chr8	146067242	146067242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggagagaagccgtaCgaatgtgcagagtgtgggaa	16	6	0	2	rs376157890		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:146067242C>T	ENST00000528372.1	+	5	990	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	250					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAAGCCGTACGAATGTGCAG	0.438																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(748-750)taC>taT		zinc finger protein 7		C		1,4405	2.1+/-5.4	0,1,2202	79	79	79		750	-1.4	0	8		79	0,8600		0,0,4300	no	coding-synonymous	ZNF7	NM_003416.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		250/687	146067242	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146067242C>T	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.750C>T	8.37:g.146067242C>T						ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000529819.1_3'UTR	p.Y250Y			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	990	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	250					B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	c.750C>T	CCDS6435.1																																																																																				0.438	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		81	328	0	0	0	0.139131	0	81	328					T	146067242	C	T	146067242	2	4	76	1	0	0	0	0	0	0	0	1	18155	547	19	1		1	ZNF7	8	146067242	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1254870	146067242	296780	60	9935											
FOXD4	2298	broad.mit.edu	37	chr9	117739	117739	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaaggcgcagatgccgctGagcgtgaggcgcttgtgcgg	18	9	0	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117739G>T	ENST00000382500.2	-	1	678	c.381C>A	c.(379-381)ctC>ctA	p.L127L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	127					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGATGCCGCTGAGCGTGAGGC	0.637																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(379-381)ctC>ctA		forkhead box D4							58	88	78					9																	117739		2136	4237	6373	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117739G>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.381C>A	9.37:g.117739G>T							p.L127L	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	678	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	127					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.381C>A	CCDS34975.1																																																																																				0.637	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		9	846	1	0	0.0581538	0.058154	0.0866955	9	846					T	117739	G	T	117739	2	4	76	1	0	0	0	0	0	0	0	1	6024	1277	45	3		3	FOXD4	9	117739	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		117739	141095692	61	9936											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	5	10	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)aAg>aGg		KIAA0020							259	237	244					9																	2837296		1837	4098	5935	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg						p.K63R	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.188A>G	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		5	771	0	0	0	0.184627	0	5	771					C	2837296	T	C	2837296	3	2	76	1	0	0	0	0	1	0	0	0	8182	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	2719557	2837296	138376135	62	9937											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	10	17	2	1	rs121913387		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7	9	8					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	52	0	0	0	0.038147	0	7	52					A	21971186	G	A	21971186	4	1	76	1	0	0	0	0	0	1	0	0	3170	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	19133890	21971186	119242245	63	9938											
NOL6	65083	broad.mit.edu	37	chr9	33463120	33463120	+	Frame_Shift_Del	DEL	C	C	-													atagaagaaaagggccagatCcccaaaggcctcctagaaag							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:33463120delC	ENST00000455041.2	-	24	3105	c.3046delG	c.(3046-3048)gatfs	p.D1016fs	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1068					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGGCCAGATCCCCAAAGGCC	0.557																																						ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(3046-3048)atfs		nucleolar protein 6 (RNA-associated)							52	50	51					9																	33463120		2203	4300	6503	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463120delC	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.3046delG	9.37:g.33463120delC	ENSP00000395915:p.Asp1016fs					NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron	p.D1016fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	24	3105	-			1068					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000455041.2	37	c.3046delG																																																																																					0.557	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		14	91						14	91	---	---	---	---	-	33463120	C	-	33463120	7	5	76	1	0	1	0	1	0	0	0	0	10567	855	30	0	246	0	NOL6	9	33463120	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P0-01A-11D-A36O-08	11491934	33463120	107750311	64	9939											
SPTLC1	10558	broad.mit.edu	37	chr9	94812277	94812277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgactcctcggccatGctctcctaggactccaaatg	8	14	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:94812277G>T	ENST00000262554.2	-	9	858	c.853C>A	c.(853-855)Cat>Aat	p.H285N		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	285					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCTCGGCCATGCTCTCCTAGG	0.383																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(853-855)Cat>Aat		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						162	152	155					9																	94812277		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94812277G>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.853C>A	9.37:g.94812277G>T	ENSP00000262554:p.His285Asn						p.H285N	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			9	858	-			285					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.853C>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	4.415	0.076812	0.08485	.	.	ENSG00000090054	ENST00000262554	D	0.94687	-3.49	4.66	3.73	0.42828	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.104209	0.64402	D	0.000004	D	0.89181	0.6642	L	0.31120	0.905	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.006;0.008	D	0.84518	0.0626	10	0.20519	T	0.43	-8.1887	13.3483	0.60587	0.0782:0.0:0.9218:0.0	.	285;285	Q6NUL7;O15269	.;SPTC1_HUMAN	N	285	ENSP00000262554:H285N	ENSP00000262554:H285N	H	-	1	0	SPTLC1	93852098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.383000	0.59600	2.411000	0.81874	0.551000	0.68910	CAT		0.383	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		6	639	1	0	0.0381472	0.038147	0.0586695	6	639					T	94812277	G	T	94812277	3	4	76	1	0	0	0	0	1	0	0	0	15175	1319	46	3	596	3	SPTLC1	9	94812277	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	61349157	94812277	46401154	65	9940											
TNC	3371	broad.mit.edu	37	chr9	117846677	117846677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtactctgtgacccGcatctcattgtcccaggcca	9	14	2	1	rs149181557	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117846677G>A	ENST00000350763.4	-	4	2353	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W|TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	648	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)			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						TCTGTGACCCGCATCTCATTG	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		19774	0.0		0.002	False		,,,				2504	0.0					ENST00000350763.4																			0				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						c.(1942-1944)Cgg>Tgg		tenascin C		G	TRP/ARG	0,4406		0,0,2203	161	145	150		1942	3.9	1	9	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNC	NM_002160.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	648/2202	117846677	2,13004	2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846677G>A		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.1942C>T	9.37:g.117846677G>A	ENSP00000265131:p.Arg648Trp					TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W	p.R648W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			4	2353	-			648			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1942C>T	CCDS6811.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.75	3.885200	0.72410	0.0	2.33E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	3.61;0.39;3.61;0.39;0.39;0.39;0.39;0.39;0.39	5.93	3.91	0.45181	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.343669	0.29459	N	0.012097	T	0.67420	0.2891	M	0.64404	1.975	0.38978	D	0.958897	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.72228	-0.4354	10	0.66056	D	0.02	.	12.0794	0.53662	0.0:0.1008:0.6328:0.2664	.	648;648	E9PC84;P24821	.;TENA_HUMAN	W	648	ENSP00000344400:R648W;ENSP00000438152:R648W;ENSP00000344555:R648W;ENSP00000345861:R648W;ENSP00000265131:R648W;ENSP00000339553:R648W;ENSP00000411406:R648W;ENSP00000443478:R648W;ENSP00000442242:R648W	ENSP00000344400:R648W	R	-	1	2	TNC	116886498	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.409000	0.34680	1.470000	0.48102	0.655000	0.94253	CGG		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		62	268	0	0	0	0.139131	0	62	268					A	117846677	G	A	117846677	3	1	76	1	0	0	0	0	1	0	0	0	16322	1086	38	1	4763	1	TNC	9	117846677	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	23034400	117846677	23366754	66	9941											
OR1J2	26740	broad.mit.edu	37	chr9	125273336	125273336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagatgctgatggacatgCggactaagtacaaatcgatc	10	8	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:125273336C>T	ENST00000335302.5	+	1	256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATGGACATGCGGACTAAGTA	0.428																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(256-258)Cgg>Tgg		olfactory receptor, family 1, subfamily J, member 2							192	157	169					9																	125273336		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273336C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.256C>T	9.37:g.125273336C>T	ENSP00000335575:p.Arg86Trp						p.R86W	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	256	+			86					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.256C>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649512	0.29336	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01963	4.53	4.71	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.410669	0.17409	U	0.175258	T	0.01254	0.0041	N	0.02830	-0.485	0.20821	N	0.999849	B	0.02656	0.0	B	0.04013	0.001	T	0.46978	-0.9152	10	0.54805	T	0.06	.	8.7949	0.34874	0.0:0.7496:0.0:0.2504	.	86	Q8NGS2	OR1J2_HUMAN	W	86	ENSP00000335575:R86W	ENSP00000335575:R86W	R	+	1	2	OR1J2	124313157	0.000000	0.05858	0.273000	0.24645	0.016000	0.09150	-1.634000	0.02020	1.232000	0.43678	0.650000	0.86243	CGG		0.428	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			6	526	0	0	0	0.217242	0	6	526					T	125273336	C	T	125273336	3	4	76	1	0	0	0	0	1	0	0	0	11002	759	27	1	258	1	OR1J2	9	125273336	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	7426659	125273336	15940095	67	9942											
USP20	10868	broad.mit.edu	37	chr9	132623286	132623286	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgaaggagagtctgagtCagaggacgatgacctgaaac	14	6	2	7			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:132623286C>A	ENST00000315480.4	+	7	559	c.401C>A	c.(400-402)tCa>tAa	p.S134*	USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*|USP20_ENST00000358355.1_Nonsense_Mutation_p.S134*			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	134					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTCTGAGTCAGAGGACGAT	0.577																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(400-402)tCa>tAa		ubiquitin specific peptidase 20							115	117	116					9																	132623286		1918	4134	6052	SO:0001587	stop_gained	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132623286C>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.401C>A	9.37:g.132623286C>A	ENSP00000313811:p.Ser134*					USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*|USP20_ENST00000358355.1_Nonsense_Mutation_p.S134*	p.S134*			Q9Y2K6	UBP20_HUMAN			7	559	+		Ovarian(14;0.00556)	134					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Nonsense_Mutation	SNP	ENST00000315480.4	37	c.401C>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	38	6.955403	0.97960	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	.	.	.	5.66	5.66	0.87406	.	0.893214	0.09824	N	0.751070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	14.3494	0.66691	0.0:0.8522:0.1478:0.0	.	.	.	.	X	134	.	ENSP00000313811:S134X	S	+	2	0	USP20	131663107	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	4.459000	0.60102	2.665000	0.90641	0.561000	0.74099	TCA		0.577	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			7	594	1	0	0.00307968	0.038147	0.00519696	7	594					A	132623286	C	A	132623286	4	1	76	1	0	0	0	0	0	1	0	0	17106	838	29	3	419	3	USP20	9	132623286	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	7349950	132623286	8590145	68	9943											
CACNA1B	774	broad.mit.edu	37	chr9	140968501	140968501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgttcttcatctacGccatcatcggcatgcaggtg	9	13	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:140968501G>A	ENST00000371372.1	+	34	4985	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A808T|CACNA1B_ENST00000371365.2_5'Flank|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1614					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.A1614S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCATCTACGCCATCATCGG	0.622																																						ENST00000277549.5																			1	Substitution - Missense(1)	p.A1614S(1)	NS(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2422-2424)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						116	122	120					9																	140968501		2195	4298	6493	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140968501G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4840G>A	9.37:g.140968501G>A	ENSP00000360423:p.Ala1614Thr					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T	p.A808T			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	34	4991	+	all_cancers(76;0.166)		1614					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2422G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	36	5.943318	0.97128	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.99084	1.0838	10	0.87932	D	0	.	19.0507	0.93043	0.0:0.0:1.0:0.0	.	1613;1612	B1AQK7;B1AQK6	.;.	T	1614;1614;808;1612;1613;1615	ENSP00000360423:A1614T;ENSP00000277551:A1614T;ENSP00000277549:A808T;ENSP00000360414:A1612T;ENSP00000360408:A1613T;ENSP00000360406:A1615T	ENSP00000277549:A808T	A	+	1	0	CACNA1B	140088322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.584000	0.87258	0.561000	0.74099	GCC		0.622	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		84	406	0	0	0	0.139131	0	84	406					A	140968501	G	A	140968501	3	1	76	1	0	0	0	0	1	0	0	0	2546	1087	38	1	4970	1	CACNA1B	9	140968501	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	8345215	140968501	244930	69	9944											
PRTFDC1	56952	broad.mit.edu	37	chr10	25226219	25226219	+	Frame_Shift_Del	DEL	C	C	-													gatcagcacagaatttgtaaCctcctttaagcacacacagg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:25226219delC	ENST00000320152.6	-	3	261	c.233delG	c.(232-234)ggtfs	p.G78fs	PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	78					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GAATTTGTAACCTCCTTTAAG	0.378																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(232-234)gtfs		phosphoribosyl transferase domain containing 1							145	137	139					10																	25226219		2203	4300	6503	SO:0001589	frameshift_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25226219delC	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.233delG	10.37:g.25226219delC	ENSP00000318602:p.Gly78fs					PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs	p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			3	261	-			78					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Frame_Shift_Del	DEL	ENST00000320152.6	37	c.233delG	CCDS7145.1																																																																																				0.378	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		86	232						86	232	---	---	---	---	-	25226219	C	-	25226219	7	5	76	1	0	1	0	1	0	0	0	0	12684	507	18	0	472	0	PRTFDC1	10	25226219	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P0-01A-11D-A36O-08		25226219	110308528	70	9945											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000374323.4_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		10	339						10	339	---	---	---	---	-	46969403	CAG	-	46969401	7	5	76	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-HZ-A8P0-01A-11D-A36O-08	21743182	46969401	88565346	71	9946											
ARHGAP22	58504	broad.mit.edu	37	chr10	49667870	49667870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctccaccagcaggggCgccaggcgggggccatactt	14	15	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:49667870C>T	ENST00000249601.4	-	5	812	c.516G>A	c.(514-516)gcG>gcA	p.A172A	ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000417247.2_Silent_p.A82A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	172	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCAGGGGCGCCAGGCGGG	0.652																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(514-516)gcG>gcA		Rho GTPase activating protein 22							50	51	50					10																	49667870		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667870C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.516G>A	10.37:g.49667870C>T						ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000417247.2_Silent_p.A82A	p.A172A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			5	812	-			172			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.516G>A	CCDS7227.1																																																																																				0.652	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		67	297	0	0	0	0.139131	0	67	297					T	49667870	C	T	49667870	2	4	76	1	0	0	0	0	0	0	0	1	872	755	27	1		1	ARHGAP22	10	49667870	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	2698469	49667870	85866877	72	9947											
SLC18A3	6572	broad.mit.edu	37	chr10	50820227	50820227	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctgacgcgctcccgttccGagcgcgatgtgctgcttgat	12	14	0	2	rs144340824		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:50820227G>T	ENST00000374115.3	+	1	1881	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	481					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCCCGTTCCGAGCGCGATGT	0.657																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1441-1443)Gag>Tag		solute carrier family 18 (vesicular acetylcholine transporter), member 3							63	52	56					10																	50820227		2203	4300	6503	SO:0001587	stop_gained	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820227G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1441G>T	10.37:g.50820227G>T	ENSP00000363229:p.Glu481*					CHAT_ENST00000339797.1_Intron	p.E481*	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1881	+			481					B2R7S1	Nonsense_Mutation	SNP	ENST00000374115.3	37	c.1441G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	41	8.864615	0.98982	.	.	ENSG00000187714	ENST00000374115	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.4589	18.0047	0.89207	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000363229:E481X	E	+	1	0	SLC18A3	50490233	1.000000	0.71417	0.976000	0.42696	0.726000	0.41606	9.869000	0.99810	2.262000	0.75019	0.561000	0.74099	GAG		0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		5	293	1	0	0.217242	0.217242	0.299942	5	293					T	50820227	G	T	50820227	4	4	76	1	0	0	0	0	0	1	0	0	14477	1059	37	3	1443	3	SLC18A3	10	50820227	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1152357	50820227	84714520	73	9948											
WAPAL	23063	broad.mit.edu	37	chr10	88260206	88260206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttttaaaatcgtcaTccttcatctccaaaagggga	6	9	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:88260206T>G	ENST00000298767.5	-	3	1266	c.794A>C	c.(793-795)gAt>gCt	p.D265A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAATCGTCATCCTTCATCTC	0.363																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(793-795)gAt>gCt		wings apart-like homolog (Drosophila)							83	80	81					10																	88260206		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260206T>G	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.794A>C	10.37:g.88260206T>G	ENSP00000298767:p.Asp265Ala						p.D265A	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1266	-			265			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.794A>C	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441746	0.25900	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.47528	0.84	5.77	3.4	0.38934	.	0.535917	0.20186	N	0.097418	T	0.35740	0.0942	L	0.34521	1.04	0.80722	D	1	B;B;B	0.22683	0.043;0.043;0.073	B;B;B	0.21151	0.01;0.01;0.033	T	0.23404	-1.0189	10	0.72032	D	0.01	.	9.4528	0.38736	0.0:0.1534:0.0:0.8466	.	265;265;308	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	A	350;265;350	ENSP00000298767:D265A	ENSP00000298767:D265A	D	-	2	0	WAPAL	88250186	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.613000	0.36900	0.996000	0.38943	0.528000	0.53228	GAT		0.363	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		81	256	0	0	0	0.139131	0	81	256					G	88260206	T	G	88260206	3	3	76	1	0	0	0	0	1	0	0	0	17302	1435	50	4	2846	4	WAPAL	10	88260206	Missense_Mutation	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	37439979	88260206	47274541	74	9949											
MUC6	4588	broad.mit.edu	37	chr11	1025891	1025892	+	Frame_Shift_Ins	INS	-	-	T													aggatcttgaaggtgggctgINStgagtcgttgacaccacaga							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1025891_1025892insT	ENST00000421673.2	-	22	2762_2763	c.2712_2713insA	c.(2710-2715)tcacagfs	p.Q905fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	905	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		AAGGTGGGCTGTGAGTCGTTGA	0.658																																						ENST00000421673.2																			0				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						c.(2710-2715)tcagccfs		mucin 6, oligomeric mucus/gel-forming																																				SO:0001589	frameshift_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025891_1025892insT	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.2713dupA	11.37:g.1025892_1025892dupT	ENSP00000406861:p.Gln905fs						p.A905fs	NM_005961.2	NP_005952.2	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)	22	2762_2763	-		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)	905			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	c.2712_2713insA	CCDS44513.1																																																																																				0.658	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		17	101						17	101	---	---	---	---	T	1025892	-	T	1025891	7	5	76	1	0	1	1	0	0	0	0	0	10021	1386	48	0	4654	0	MUC6	11	1025891	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08		1025891	133980625	75	9950											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	10	22	0	1	rs138454470	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687													a|||	16	0.00319489	0.0113	0.0014	5008	,	,		7650	0.0		0.0	False		,,,				2504	0.0					ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(103-105)Cgt>Tgt		keratin associated protein 5-2							28	36	33					11																	1619378		2153	4213	6366	SO:0001583	missense	440021					keratin filament		g.chr11:1619378G>A	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.103C>T	11.37:g.1619378G>A	ENSP00000400041:p.Arg35Cys					KRTAP5-AS1_ENST00000424148.1_RNA	p.R35C	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	146	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	35					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.103C>T	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.373233	0.42105	.	.	ENSG00000205867	ENST00000412090	T	0.00655	5.95	1.5	1.5	0.22942	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.30628	N	0.757796	.	.	.	.	.	.	T	0.38628	-0.9652	7	0.44086	T	0.13	.	4.9464	0.13991	0.8126:0.0:0.1874:0.0	.	35	Q701N4	KRA52_HUMAN	C	35	ENSP00000400041:R35C	ENSP00000400041:R35C	R	-	1	0	KRTAP5-2	1575954	0.000000	0.05858	0.659000	0.29680	0.640000	0.38277	-0.254000	0.08781	0.123000	0.18342	0.000000	0.15137	CGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		7	317	0	0	0	0.038147	0	7	317					A	1619378	G	A	1619378	3	1	76	1	0	0	0	0	1	0	0	0	8592	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	593487	1619378	133387138	76	9951											
ZNF195	7748	broad.mit.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	9	9	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000354599.6_Silent_p.K448K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168	171	170					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			7	742	0	0	0	0.038147	0	7	742					T	3380678	C	T	3380678	2	4	76	1	0	0	0	0	0	0	0	1	17811	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1761300	3380678	131625838	77	9952											
OR5A1	219982	broad.mit.edu	37	chr11	59211572	59211572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaggtgttggaaaggAagaaagtgttttcttaggtc	15	2	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59211572A>G	ENST00000302030.2	+	1	956	c.931A>G	c.(931-933)Aag>Gag	p.K311E		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGAAAGGAAGAAAGTGTT	0.438																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(931-933)Aag>Gag		olfactory receptor, family 5, subfamily A, member 1							148	148	148					11																	59211572		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211572A>G	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.931A>G	11.37:g.59211572A>G	ENSP00000303096:p.Lys311Glu						p.K311E	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	956	+			311					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.931A>G	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	7.443	0.641062	0.14386	.	.	ENSG00000172320	ENST00000302030	T	0.39406	1.08	5.02	2.68	0.31781	.	0.762345	0.11693	N	0.538628	T	0.25901	0.0631	L	0.28115	0.83	0.09310	N	1	P	0.37122	0.583	B	0.30646	0.118	T	0.09930	-1.0652	10	0.52906	T	0.07	-1.0631	6.7823	0.23652	0.8103:0.0:0.1897:0.0	.	311	Q8NGJ0	OR5A1_HUMAN	E	311	ENSP00000303096:K311E	ENSP00000303096:K311E	K	+	1	0	OR5A1	58968148	0.998000	0.40836	0.001000	0.08648	0.222000	0.24845	4.557000	0.60782	0.351000	0.24027	0.528000	0.53228	AAG		0.438	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		101	456	0	0	0	0.139131	0	101	456					G	59211572	A	G	59211572	3	3	76	1	0	0	0	0	1	0	0	0	11181	247	9	4	933	4	OR5A1	11	59211572	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	55830894	59211572	75794944	78	9953											
MS4A3	932	broad.mit.edu	37	chr11	59837071	59837071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtgtctctactgctgattCtcaccttgctggaattatgc	9	10	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59837071C>T	ENST00000278865.3	+	6	611	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	180						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACTGCTGATTCTCACCTTGCT	0.413																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(538-540)Ctc>Ttc		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)							274	253	260					11																	59837071		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59837071C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.538C>T	11.37:g.59837071C>T	ENSP00000278865:p.Leu180Phe					MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F	p.L180F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			6	611	+		all_epithelial(135;0.245)	180					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.538C>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688406	0.14973	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	4.75	-0.38	0.12490	.	0.452259	0.22739	N	0.056237	T	0.01489	0.0048	N	0.20986	0.625	0.09310	N	1	B;P	0.38395	0.215;0.629	B;B	0.40199	0.097;0.322	T	0.40021	-0.9585	10	0.02654	T	1	-7.6657	7.4388	0.27171	0.0:0.5146:0.0:0.4854	.	134;180	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	57;134;180;134	ENSP00000378473:L57F;ENSP00000350872:L134F;ENSP00000278865:L180F;ENSP00000434117:L134F	ENSP00000278865:L180F	L	+	1	0	MS4A3	59593647	0.108000	0.22018	0.003000	0.11579	0.108000	0.19459	-0.073000	0.11468	-0.246000	0.09611	0.643000	0.83706	CTC		0.413	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			14	754	0	0	0	0.105934	0	14	754					T	59837071	C	T	59837071	3	4	76	1	0	0	0	0	1	0	0	0	9902	913	32	2	556	2	MS4A3	11	59837071	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	625499	59837071	75169445	79	9954											
BEST1	7439	broad.mit.edu	37	chr11	61730184	61730184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaattgctctcagagagcGatggggccttgatggagcac	14	8	1	3	rs61747600		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:61730184G>A	ENST00000378043.4	+	10	2201	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000449131.2_Missense_Mutation_p.D460N|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N|BEST1_ENST00000301774.9_Missense_Mutation_p.D148N	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	520					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAGAGAGCGATGGGGCCTT	0.468																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1378-1380)Gat>Aat		bestrophin 1							82	78	79					11																	61730184		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730184G>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1558G>A	11.37:g.61730184G>A	ENSP00000367282:p.Asp520Asn					BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N	p.D460N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1464	+			520					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1378G>A	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099498	0.37048	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.97404	-4.36;-4.1;-0.33;-4.37	5.34	1.03	0.20045	.	1.615380	0.03680	N	0.245331	D	0.90195	0.6935	N	0.14661	0.345	0.09310	N	0.999994	P;B;P	0.38370	0.628;0.355;0.628	B;B;B	0.24848	0.04;0.018;0.056	D	0.86624	0.1881	10	0.23891	T	0.37	-0.3632	4.8606	0.13581	0.2543:0.2983:0.4474:0.0	rs61747600	433;520;460	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	N	520;433;148;460	ENSP00000367282:D520N;ENSP00000367281:D433N;ENSP00000301774:D148N;ENSP00000399709:D460N	ENSP00000301774:D148N	D	+	1	0	BEST1	61486760	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.302000	0.19192	0.254000	0.21573	0.655000	0.94253	GAT		0.468	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		34	182	0	0	0	0.183431	0	34	182					A	61730184	G	A	61730184	3	1	76	1	0	0	0	0	1	0	0	0	1405	1058	37	1	1592	1	BEST1	11	61730184	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1893113	61730184	73276332	80	9955											
FOLH1B	219595	broad.mit.edu	37	chr11	89405142	89405142	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgttgttcatgaaaCtgtgaggagctttggaacac	12	7	1	2	rs3018757		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							208	185	193					11																	89405142		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405142C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405142C>T										Q9HBA9	FOH1B_HUMAN			0	1082	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.433	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		6	632	0	0	0	0.038147	0	6	632					T	89405142	C	T	89405142	1	4	76	0	1	0	0	0	0	0	0	0	6005	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	27674958	89405142	45601374	81	9956											
KDELC2	143888	broad.mit.edu	37	chr11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttccctaaagatctcCggtaaacatggttattgaga	8	7	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108356954C>T	ENST00000323468.5	-	3	679	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	KDELC2_ENST00000434945.2_Missense_Mutation_p.R149Q|KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(445-447)cGg>cAg		KDEL (Lys-Asp-Glu-Leu) containing 2							160	145	150					11																	108356954		1845	4093	5938	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108356954C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.614G>A	11.37:g.108356954C>T	ENSP00000315386:p.Arg205Gln					KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q	p.R149Q			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	748	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	205					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.446G>A	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800251	0.90538	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.23754	1.89;1.89;1.89	4.68	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.58842	-0.7565	10	0.31617	T	0.26	-17.0817	14.0815	0.64925	0.0:0.926:0.0:0.074	.	205;149	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	Q	205;149;149	ENSP00000315386:R205Q;ENSP00000413429:R149Q;ENSP00000364799:R149Q	ENSP00000315386:R205Q	R	-	2	0	KDELC2	107862164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.543000	0.82106	1.566000	0.49654	0.655000	0.94253	CGG		0.378	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		69	319	0	0	0	0.139131	0	69	319					T	108356954	C	T	108356954	3	4	76	1	0	0	0	0	1	0	0	0	8148	652	23	1	933	1	KDELC2	11	108356954	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	18951812	108356954	26649562	82	9957											
APOA4	337	broad.mit.edu	37	chr11	116692155	116692155	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaatcttgactttgaattCgtcagcgtagggcgtaaggc	12	8	3	2	rs145184607		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:116692155C>A	ENST00000357780.3	-	3	733	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	207	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTTTGAATTCGTCAGCGTAG	0.622																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(619-621)Gaa>Taa		apolipoprotein A-IV							213	203	207					11																	116692155		2201	4294	6495	SO:0001587	stop_gained	337							g.chr11:116692155C>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.619G>T	11.37:g.116692155C>A	ENSP00000350425:p.Glu207*						p.E207*	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	733	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Nonsense_Mutation	SNP	ENST00000357780.3	37	c.619G>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417451	0.62622	.	.	ENSG00000110244	ENST00000357780	.	.	.	5.2	-0.358	0.12575	.	1.439250	0.04140	N	0.319406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.1119	7.4216	0.27075	0.0:0.4561:0.2494:0.2944	.	.	.	.	X	207	.	ENSP00000350425:E207X	E	-	1	0	APOA4	116197365	0.000000	0.05858	0.009000	0.14445	0.413000	0.31143	0.036000	0.13819	-0.027000	0.13873	0.563000	0.77884	GAA		0.622	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		11	1063	1	0	0.0477658	0.047766	0.0725442	11	1063					A	116692155	C	A	116692155	4	1	76	1	0	0	0	0	0	1	0	0	783	893	31	3	575	3	APOA4	11	116692155	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	8335201	116692155	18314361	83	9958											
DSCAML1	57453	broad.mit.edu	37	chr11	117387332	117387332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggtggttgtctggcaGcagcagggcatccttgtacc	15	11	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:117387332G>A	ENST00000321322.6	-	8	1814	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	DSCAML1_ENST00000527706.1_Silent_p.L335L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	545	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCTGGCAGCAGCAGGGCA	0.582																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1813-1815)Ctg>Ttg		Down syndrome cell adhesion molecule like 1							93	76	82					11																	117387332		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117387332G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1813C>T	11.37:g.117387332G>A						DSCAML1_ENST00000527706.1_Silent_p.L335L	p.L605L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	8	1814	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	545			Ig-like C2-type 7.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.1813C>T	CCDS8384.1																																																																																				0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	190	0	0	0	0.150653	0	4	190					A	117387332	G	A	117387332	2	1	76	1	0	0	0	0	0	0	0	1	4785	962	34	2		2	DSCAML1	11	117387332	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	695177	117387332	17619184	84	9959											
BCL9L	283149	broad.mit.edu	37	chr11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-													gctgccccatgtccccacccGgggggtgcccaggcacttca							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118772974delG	ENST00000334801.3	-	6	2442	c.1478delC	c.(1477-1479)ccgfs	p.P493fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTCCCCACCCGGGGGGTGCCC	0.622																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1477-1479)cgfs		B-cell CLL/lymphoma 9-like							58	71	66					11																	118772974		2188	4274	6462	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772974delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1478delC	11.37:g.118772974delG	ENSP00000335320:p.Pro493fs					BCL9L_ENST00000526143.1_5'UTR	p.P493fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2442	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	493			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1478delC	CCDS8403.1																																																																																				0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	703						7	703	---	---	---	---	-	118772974	G	-	118772974	7	5	76	1	0	1	0	1	0	0	0	0	1383	1116	39	0	3033	0	BCL9L	11	118772974	Frame_Shift_Del	DEL	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1385642	118772974	16233542	85	9960											
HYOU1	10525	broad.mit.edu	37	chr11	118919004	118919004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccagccaggtggatgCggcgctgagcttcccagaga	13	13	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118919004C>T	ENST00000404233.3	-	20	2456	c.2332G>A	c.(2332-2334)Gca>Aca	p.A778T	HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	778					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CAGGTGGATGCGGCGCTGAGC	0.617																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2332-2334)Gca>Aca		hypoxia up-regulated 1							88	86	87					11																	118919004		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919004C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2332G>A	11.37:g.118919004C>T	ENSP00000384144:p.Ala778Thr					HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T	p.A778T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	20	2456	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	778					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2332G>A	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	6.079	0.382934	0.11524	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14022	2.54;2.54;2.54	5.53	-0.593	0.11667	.	0.229106	0.44902	N	0.000409	T	0.08802	0.0218	L	0.37697	1.125	0.09310	N	0.999994	B;D;B;B	0.52996	0.104;0.957;0.023;0.023	B;B;B;B	0.43386	0.021;0.418;0.015;0.015	T	0.35549	-0.9784	10	0.06757	T	0.87	-4.1834	10.1432	0.42747	0.0:0.5981:0.0:0.4019	.	769;760;778;778	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	T	778;769;716;627;716;759	ENSP00000384144:A778T;ENSP00000437313:A716T;ENSP00000433397:A716T	ENSP00000278752:A769T	A	-	1	0	HYOU1	118424214	0.087000	0.21565	0.000000	0.03702	0.044000	0.14063	0.693000	0.25497	-0.257000	0.09459	-0.894000	0.02916	GCA		0.617	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		7	383	0	0	0	0.038147	0	7	383					T	118919004	C	T	118919004	3	4	76	1	0	0	0	0	1	0	0	0	7500	768	27	1	695	1	HYOU1	11	118919004	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	146030	118919004	16087512	86	9961											
TAS2R20	259295	broad.mit.edu	37	chr12	11149731	11149731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcttaaaattccaaaaCgatatgattagacacagaaa	5	8	1	3	rs558939586		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11149731C>T	ENST00000538986.1	-	1	743	c.744G>A	c.(742-744)tcG>tcA	p.S248S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	248					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AATTCCAAAACGATATGATTA	0.378																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(742-744)tcG>tcA		taste receptor, type 2, member 20							117	116	116					12																	11149731		2203	4300	6503	SO:0001819	synonymous_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149731C>T	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.744G>A	12.37:g.11149731C>T						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.S248S	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	743	-			248					P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	c.744G>A	CCDS8639.1																																																																																				0.378	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		75	348	0	0	0	0.139131	0	75	348					T	11149731	C	T	11149731	2	4	76	1	0	0	0	0	0	0	0	1	15623	523	19	1		1	TAS2R20	12	11149731	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		11149731	122702164	87	9962											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)caA>caT		Kirsten rat sarcoma viral oncogene homolog							109	98	102					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>T	12.37:g.25380275T>A	ENSP00000256078:p.Gln61His	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	374	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		72	278	0	0	0	0.139131	0	72	278					A	25380275	T	A	25380275	3	1	76	1	0	0	0	0	1	0	0	0	8468	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	14230544	25380275	108471620	88	9963											
KIF21A	55605	broad.mit.edu	37	chr12	39713783	39713784	+	Frame_Shift_Ins	INS	-	-	T													tacaggagaaggctctggaaINStttttttttctgatagagat							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:39713783_39713784insT	ENST00000361418.5	-	28	3718_3719	c.3703_3704insA	c.(3703-3705)attfs	p.I1235fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.I1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.I1222fs|KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.I1235fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.I1215fs|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1235					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGGCTCTGGAATTTTTTTTTCT	0.342																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3703-3705)tccfs		kinesin family member 21A																																				SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713783_39713784insT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3704dupA	12.37:g.39713792_39713792dupT	ENSP00000354878:p.Ile1235fs					KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000547745.1_5'UTR	p.S1235fs			Q7Z4S6	KI21A_HUMAN			27	4122_4123	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1235					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	ENST00000361418.5	37	c.3703_3704insA	CCDS53776.1																																																																																				0.342	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	589						8	589	---	---	---	---	T	39713784	-	T	39713783	7	5	76	1	0	1	1	0	0	0	0	0	8318	101	4	0	1364	0	KIF21A	12	39713783	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08	14333508	39713783	94138112	89	9964											
ESPL1	9700	broad.mit.edu	37	chr12	53681786	53681786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatgacagtgacttggaaGaccctgtctcagctgaggcc	13	10	1	5			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:53681786G>A	ENST00000257934.4	+	19	4298	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					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)			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						TGACTTGGAAGACCCTGTCTC	0.582											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(4207-4209)Gac>Aac		extra spindle pole bodies homolog 1 (S. cerevisiae)							48	49	49					12																	53681786		2196	4294	6490	SO:0001583	missense	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.chr12:53681786G>A	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.4207G>A	12.37:g.53681786G>A	ENSP00000257934:p.Asp1403Asn		OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			19	4298	+			1403						Missense_Mutation	SNP	ENST00000257934.4	37	c.4207G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.645049	0.67358	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12039	2.72;2.72	5.8	5.8	0.92144	.	0.429106	0.26935	N	0.021758	T	0.19565	0.0470	M	0.67953	2.075	0.38567	D	0.949859	P	0.44734	0.842	B	0.40329	0.326	T	0.02743	-1.1116	10	0.34782	T	0.22	.	16.9805	0.86326	0.0:0.0:1.0:0.0	.	1403	Q14674	ESPL1_HUMAN	N	1403;1078;1403	ENSP00000257934:D1403N;ENSP00000449831:D1403N	ENSP00000257934:D1403N	D	+	1	0	ESPL1	51968053	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.401000	0.66326	2.751000	0.94390	0.650000	0.86243	GAC		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		73	310	0	0	0	0.139131	0	73	310					A	53681786	G	A	53681786	3	1	76	1	0	0	0	0	1	0	0	0	5271	942	33	2	4277	2	ESPL1	12	53681786	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	13968003	53681786	80170109	90	9965											
ATP5B	506	broad.mit.edu	37	chr12	57037629	57037629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaataacataccaattttgCcacccttggcatagggagct	7	10	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:57037629C>T	ENST00000262030.3	-	4	649	c.599G>A	c.(598-600)gGc>gAc	p.G200D	ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	200					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAATTTTGCCACCCTTGGC	0.418																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(598-600)gGc>gAc		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							122	106	111					12																	57037629		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037629C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.599G>A	12.37:g.57037629C>T	ENSP00000262030:p.Gly200Asp					ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D	p.G200D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			4	649	-			200					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.599G>A	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.996446|4.996446	0.93167|0.93167	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020|ENST00000552959	D;D;D|.	0.82433|.	-1.61;-1.61;-1.61|.	5.56|5.56	5.56|5.56	0.83823|0.83823	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88822|.	0.6541|.	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	P|.	0.43542|.	0.81|.	P|.	0.60886|.	0.88|.	D|.	0.92479|.	0.5991|.	10|.	0.87932|.	D|.	0|.	-0.5245|-0.5245	18.303|18.303	0.90171|0.90171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	200|.	P06576|.	ATPB_HUMAN|.	D|X	200;200;139|136	ENSP00000262030:G200D;ENSP00000450297:G200D;ENSP00000446677:G139D|.	ENSP00000262030:G200D|.	G|W	-|-	2|3	0|0	ATP5B|ATP5B	55323896|55323896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	7.114000|7.114000	0.77103|0.77103	2.627000|2.627000	0.88993|0.88993	0.313000|0.313000	0.20887|0.20887	GGC|TGG		0.418	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		5	427	0	0	0	0.184627	0	5	427					T	57037629	C	T	57037629	3	4	76	1	0	0	0	0	1	0	0	0	1149	739	26	2	1018	2	ATP5B	12	57037629	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	3355843	57037629	76814266	91	9966											
STAB2	55576	broad.mit.edu	37	chr12	104147083	104147083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagagaggcctgtgccaaCgaagctgcgaccatggcaac	13	13	0	1	rs139125034	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:104147083C>T	ENST00000388887.2	+	61	6870	c.6666C>T	c.(6664-6666)aaC>aaT	p.N2222N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCCAACGAAGCTGCGA	0.552																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6664-6666)aaC>aaT		stabilin 2		C		0,4406		0,0,2203	102	87	92		6666	-10	0	12	dbSNP_134	92	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous	STAB2	NM_017564.9		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		2222/2552	104147083	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104147083C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6666C>T	12.37:g.104147083C>T						RP11-341G23.4_ENST00000551299.1_RNA	p.N2222N	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			61	6870	+			2222			Link.			Silent	SNP	ENST00000388887.2	37	c.6666C>T	CCDS31888.1																																																																																				0.552	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			48	187	0	0	0	0.131918	0	48	187					T	104147083	C	T	104147083	2	4	76	1	0	0	0	0	0	0	0	1	15290	535	19	1		1	STAB2	12	104147083	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	47109454	104147083	29704812	92	9967											
NAA25	80018	broad.mit.edu	37	chr12	112516479	112516479	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcctctttcaccattttttCgaccattctctcagcaaggg	6	13	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:112516479C>A	ENST00000261745.4	-	6	792	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	182						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCATTTTTTCGACCATTCTC	0.348																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(544-546)Gaa>Taa		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							169	151	157					12																	112516479		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112516479C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.544G>T	12.37:g.112516479C>A	ENSP00000261745:p.Glu182*						p.E182*	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			6	792	-			182					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.544G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625041	0.96660	.	.	ENSG00000111300	ENST00000261745	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-17.701	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000261745:E182X	E	-	1	0	NAA25	111000862	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.251000	0.78297	2.878000	0.98634	0.650000	0.86243	GAA		0.348	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		5	404	1	0	0.217242	0.217242	0.299942	5	404					A	112516479	C	A	112516479	4	1	76	1	0	0	0	0	0	1	0	0	10162	893	31	3	2450	3	NAA25	12	112516479	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	8369396	112516479	21335416	93	9968											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	14	11	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																						ENST00000409832.3																			1	Substitution - Missense(1)	p.R136H(1)	ovary(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(406-408)cGt>cAt		POTE ankyrin domain family, member G							93	102	99					14																	19553823		1602	3367	4969	SO:0001583	missense	404785							g.chr14:19553823G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His						p.R136H	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	459	+			136					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.407G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		44	862	0	0	0	0.104719	0	44	862					A	19553823	G	A	19553823	3	1	76	1	0	0	0	0	1	0	0	0	12308	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		19553823	87795717	94	9969											
APEX1	328	broad.mit.edu	37	chr14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-													cgggaatgccgaagcgtgggAaaaagggagcggtggcggaa							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aaafs	p.K7fs	APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(16-18)aafs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						111	101	104					14																	20923820		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20923820delA	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.16delA	14.37:g.20923820delA	ENSP00000216714:p.Lys7fs					APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron	p.K7fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	284	+	all_cancers(95;0.00123)	all_lung(585;0.235)	7			Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.16delA	CCDS9550.1																																																																																				0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		7	775						7	775	---	---	---	---	-	20923820	A	-	20923820	7	5	76	1	0	1	0	1	0	0	0	0	769	247	9	0	18	0	APEX1	14	20923820	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P0-01A-11D-A36O-08	1369997	20923820	86425720	95	9970											
ZNF219	51222	broad.mit.edu	37	chr14	21561128	21561128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcaggactacgtgggcgctCgggctggtgtgtgcgcaggt	19	9	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:21561128C>A	ENST00000360947.3	-	3	739	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	110					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTGGGCGCTCGGGCTGGTGT	0.721											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(328-330)Gag>Tag		zinc finger protein 219							13	15	14					14																	21561128		2186	4272	6458	SO:0001587	stop_gained	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21561128C>A	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.328G>T	14.37:g.21561128C>A	ENSP00000354206:p.Glu110*		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*	p.E110*	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	739	-	all_cancers(95;0.00185)		110					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Nonsense_Mutation	SNP	ENST00000360947.3	37	c.328G>T	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	C	36	5.775484	0.96922	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270;ENST00000554478;ENST00000556174	.	.	.	4.99	4.99	0.66335	.	0.244954	0.34291	N	0.004083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6504	13.6641	0.62384	0.0:1.0:0.0:0.0	.	.	.	.	X	110;110;110;110;156;110	.	ENSP00000354206:E110X	E	-	1	0	ZNF219	20630968	0.012000	0.17670	0.945000	0.38365	0.486000	0.33341	2.161000	0.42358	2.597000	0.87782	0.655000	0.94253	GAG		0.721	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			5	104	1	0	0.014758	0.184627	0.024231	5	104					A	21561128	C	A	21561128	4	1	76	1	0	0	0	0	0	1	0	0	17826	893	31	3	1852	3	ZNF219	14	21561128	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	637308	21561128	85788412	96	9971											
NPAS3	64067	broad.mit.edu	37	chr14	34269465	34269465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaagatcaagacggAgatctcagaacccatcaatt	9	10	4	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:34269465A>T	ENST00000356141.4	+	12	1952	c.1952A>T	c.(1951-1953)gAg>gTg	p.E651V	NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000346562.2_Missense_Mutation_p.E619V|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCAAGACGGAGATCTCAGAA	0.627																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1855-1857)gAg>gTg		neuronal PAS domain protein 3							60	59	59					14																	34269465		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269465A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1952A>T	14.37:g.34269465A>T	ENSP00000348460:p.Glu651Val					NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V	p.E619V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1930	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		651					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1856A>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362475	0.61403	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.72167	-0.63;2.95;2.97;2.97;2.95;2.82	5.07	5.07	0.68467	.	0.135165	0.50627	D	0.000116	T	0.75488	0.3856	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.80764	0.994;0.987;0.994;0.994	T	0.79055	-0.1960	10	0.72032	D	0.01	.	14.8262	0.70113	1.0:0.0:0.0:0.0	.	621;651;619;638	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	625;656;619;621;651;638	ENSP00000448373:E625V;ENSP00000450392:E656V;ENSP00000319610:E619V;ENSP00000448916:E621V;ENSP00000348460:E651V;ENSP00000350446:E638V	ENSP00000319610:E619V	E	+	2	0	NPAS3	33339216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.019000	0.93662	1.887000	0.54652	0.454000	0.30748	GAG		0.627	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			36	154	0	0	0	0.203993	0	36	154					T	34269465	A	T	34269465	3	4	76	1	0	0	0	0	1	0	0	0	10606	304	11	5	2053	5	NPAS3	14	34269465	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	12708337	34269465	73080075	97	9972											
C14orf115	55237	broad.mit.edu	37	chr14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-													cctgcaggacagcttccaccGggggggcgtcgtgccacttc					rs201579420		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)cgfs		vertebrae development associated							51	57	55					14																	74824463		2203	4300	6503	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824463delG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.977delG	14.37:g.74824463delG	ENSP00000256362:p.Arg326fs						p.R326fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1218	+			326					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.977delG	CCDS9830.1																																																																																				0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		8	551						8	551	---	---	---	---	-	74824463	G	-	74824463	7	5	76	1	0	1	0	1	0	0	0	0	1745	1116	39	0	979	0	C14orf115	14	74824463	Frame_Shift_Del	DEL	G	TCGA-HZ-A8P0-01A-11D-A36O-08	40554998	74824463	32525077	98	9973											
BTBD7	55727	broad.mit.edu	37	chr14	93761248	93761248	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggctatacaactttgattCgcaaccatagccttgctgag	8	10	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:93761248C>A	ENST00000334746.5	-	3	425	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	40					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AACTTTGATTCGCAACCATAG	0.348																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(118-120)Gaa>Taa		BTB (POZ) domain containing 7							57	61	60					14																	93761248		2201	4300	6501	SO:0001587	stop_gained	55727							g.chr14:93761248C>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.118G>T	14.37:g.93761248C>A	ENSP00000335615:p.Glu40*					BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*	p.E40*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	425	-		all_cancers(154;0.08)	40					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	c.118G>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505722	0.85282	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525;ENST00000554968	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000298896:E40X	E	-	1	0	BTBD7	92831001	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.804000	0.96469	0.655000	0.94253	GAA		0.348	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		6	442	1	0	0.217242	0.217242	0.299942	6	442					A	93761248	C	A	93761248	4	1	76	1	0	0	0	0	0	1	0	0	1550	893	31	3	3391	3	BTBD7	14	93761248	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	18936785	93761248	13588292	99	9974											
DICER1	23405	broad.mit.edu	37	chr14	95590833	95590833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagaagtgctcttcaCatagtgcatgtattttcctt	9	8	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:95590833C>T	ENST00000526495.1	-	10	1367	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	359	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTGCTCTTCACATAGTGCATG	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1075-1077)tGt>tAt		dicer 1, ribonuclease type III							139	141	141					14																	95590833		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590833C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1076G>A	14.37:g.95590833C>T	ENSP00000437256:p.Cys359Tyr					DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y	p.C359Y			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1367	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	359			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1076G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387947	0.82902	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.63843	1.955	0.80722	D	1	D	0.60575	0.988	D	0.63192	0.912	T	0.50415	-0.8831	10	0.09338	T	0.73	-18.0875	19.4888	0.95042	0.0:1.0:0.0:0.0	.	359	Q9UPY3	DICER_HUMAN	Y	359	ENSP00000343745:C359Y;ENSP00000437256:C359Y;ENSP00000376783:C359Y;ENSP00000435681:C359Y;ENSP00000444719:C359Y	ENSP00000343745:C359Y	C	-	2	0	DICER1	94660586	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	TGT		0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			103	431	0	0	0	0.139131	0	103	431					T	95590833	C	T	95590833	3	4	76	1	0	0	0	0	1	0	0	0	4537	478	17	2	4772	2	DICER1	14	95590833	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1829585	95590833	11758707	100	9975											
C15orf2	23742	broad.mit.edu	37	chr15	24922535	24922535	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctagctccacaccctccttCaagcctcccgtcacaaggga	6	19	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:24922535C>A	ENST00000329468.2	+	1	1995	c.1521C>A	c.(1519-1521)ttC>ttA	p.F507L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	507	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CACCCTCCTTCAAGCCTCCCG	0.537																																						ENST00000329468.2																			0											c.(1519-1521)ttC>ttA		nuclear pore associated protein 1							178	190	186					15																	24922535		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922535C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1521C>A	15.37:g.24922535C>A	ENSP00000333735:p.Phe507Leu						p.F507L	NM_018958.2	NP_061831.2					1	1995	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1521C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.817	-0.038628	0.07497	.	.	ENSG00000185823	ENST00000329468	T	0.12039	2.72	2.0	-0.217	0.13149	.	1.525930	0.04380	N	0.360618	T	0.11110	0.0271	L	0.39898	1.24	0.09310	N	1	B	0.23058	0.079	B	0.16289	0.015	T	0.34625	-0.9821	10	0.19147	T	0.46	.	6.1271	0.20186	0.542:0.458:0.0:0.0	.	507	Q9NZP6	CO002_HUMAN	L	507	ENSP00000333735:F507L	ENSP00000333735:F507L	F	+	3	2	C15orf2	22473628	0.000000	0.05858	0.004000	0.12327	0.090000	0.18270	-1.349000	0.02627	-0.037000	0.13646	0.205000	0.17691	TTC		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	1110	1	0	0.150653	0.150653	0.220535	9	1110					A	24922535	C	A	24922535	3	1	76	1	0	0	0	0	1	0	0	0	1789	825	29	3	1523	3	C15orf2	15	24922535	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		24922535	77608857	101	9976											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		7	672						7	672	---	---	---	---	-	31196894	A	-	31196894	7	5	76	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P0-01A-11D-A36O-08	6274359	31196894	71334498	102	9977											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	684						9	684	---	---	---	---	-	34393993	AGC	-	34393991	7	5	76	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-HZ-A8P0-01A-11D-A36O-08	3197097	34393991	68137401	103	9978											
MYEF2	50804	broad.mit.edu	37	chr15	48443700	48443700	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggaatctccaaagccttGatttattccaatatcaccac	4	11	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:48443700G>T	ENST00000324324.7	-	13	1555	c.1276C>A	c.(1276-1278)Caa>Aaa	p.Q426K	MYEF2_ENST00000267836.6_Missense_Mutation_p.Q426K	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	426	Gly-rich.		Q -> R (in dbSNP:rs2470103). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCAAAGCCTTGATTTATTCCA	0.388																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1276-1278)Caa>Aaa		myelin expression factor 2							242	253	249					15																	48443700		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443700G>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1276C>A	15.37:g.48443700G>T	ENSP00000316950:p.Gln426Lys					MYEF2_ENST00000267836.6_Missense_Mutation_p.Q426K	p.Q426K	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1555	-		all_lung(180;0.00217)	426		Q -> R (in dbSNP:rs2470103).	Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1276C>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208129	0.58343	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.27104	1.69;2.12	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	N	0.14661	0.345	0.24648	N	0.993534	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10109	-1.0644	10	0.23891	T	0.37	-4.3785	20.0762	0.97745	0.0:0.0:1.0:0.0	.	426;426	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	K	426;426;38	ENSP00000316950:Q426K;ENSP00000267836:Q426K	ENSP00000267836:Q426K	Q	-	1	0	MYEF2	46230992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.880000	0.75578	2.756000	0.94617	0.655000	0.94253	CAA		0.388	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		9	1093	1	0	0.00829132	0.069234	0.0137999	9	1093					T	48443700	G	T	48443700	3	4	76	1	0	0	0	0	1	0	0	0	10065	1299	45	3	546	3	MYEF2	15	48443700	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	14049709	48443700	54087692	104	9979											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499545	59499545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagattactttgtcacaGcaaactccaacctagtgatt	6	10	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:59499545G>A	ENST00000307144.4	+	1	504	c.406G>A	c.(406-408)Gca>Aca	p.A136T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CTTTGTCACAGCAAACTCCAA	0.428																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(406-408)Gca>Aca		lactate dehydrogenase A-like 6B	NADH(DB00157)						106	104	105					15																	59499545		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499545G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.406G>A	15.37:g.59499545G>A	ENSP00000302393:p.Ala136Thr					MYO1E_ENST00000288235.4_Intron	p.A136T	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	504	+			136					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.406G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503507	0.64298	.	.	ENSG00000171989	ENST00000307144	D	0.88431	-2.38	1.47	1.47	0.22746	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000005	D	0.87051	0.6081	M	0.79693	2.465	0.53005	D	0.999961	P	0.39311	0.667	B	0.37943	0.261	D	0.85352	0.1102	10	0.62326	D	0.03	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	136	Q9BYZ2	LDH6B_HUMAN	T	136	ENSP00000302393:A136T	ENSP00000302393:A136T	A	+	1	0	LDHAL6B	57286837	1.000000	0.71417	0.083000	0.20561	0.047000	0.14425	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GCA		0.428	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		6	615	0	0	0	0.217242	0	6	615					A	59499545	G	A	59499545	3	1	76	1	0	0	0	0	1	0	0	0	8731	971	34	2	408	2	LDHAL6B	15	59499545	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	11055845	59499545	43031847	105	9980											
ANKDD1A	348094	broad.mit.edu	37	chr15	65219105	65219105	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcctcccggccagctgggGaggacggcgtttcacagggc	15	14	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:65219105G>C	ENST00000380230.3	+	6	506	c.477G>C	c.(475-477)ggG>ggC	p.G159G	ANKDD1A_ENST00000395720.1_Silent_p.G159G|ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395723.1_Silent_p.G68G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	159					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCAGCTGGGGAGGACGGCGT	0.622																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(475-477)ggG>ggC		ankyrin repeat and death domain containing 1A							109	100	103					15																	65219105		2202	4299	6501	SO:0001819	synonymous_variant	348094				signal transduction			g.chr15:65219105G>C		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.477G>C	15.37:g.65219105G>C						AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Silent_p.G159G|ANKDD1A_ENST00000319580.8_3'UTR	p.G159G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			6	506	+			159					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	c.477G>C	CCDS10197.2																																																																																				0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		79	371	0	0	0	0.139131	0	79	371					C	65219105	G	C	65219105	2	2	76	1	0	0	0	0	0	0	0	1	624	1161	41	5		5	ANKDD1A	15	65219105	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	5719560	65219105	37312287	106	9981											
LBXCOR1	390598	broad.mit.edu	37	chr15	68119541	68119541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccgggcggcggcgccAtgttctgggggcatcaaccc	17	15	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:68119541A>T	ENST00000380035.2	+	2	1433	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	459					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						cggcggcgccATGTTCTGGGG	0.781																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(1375-1377)Atg>Ttg		SKI family transcriptional corepressor 1							7	9	8					15																	68119541		1492	3045	4537	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68119541A>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1375A>T	15.37:g.68119541A>T	ENSP00000369374:p.Met459Leu					SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L|SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L	p.M459L			P84550	SKOR1_HUMAN			2	1433	+			459					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.1375A>T		.	.	.	.	.	.	.	.	.	.	A	0.342	-0.949874	0.02285	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	3.71	2.58	0.30949	.	0.635877	0.15898	N	0.239206	T	0.07324	0.0185	N	0.08118	0	0.20764	N	0.999856	P	0.36048	0.534	B	0.37346	0.247	T	0.32877	-0.9890	10	0.11485	T	0.65	-2.9782	5.7861	0.18334	0.8762:0.0:0.1238:0.0	.	415	P84550-3	.	L	420;431;459;415	ENSP00000451193:M420L;ENSP00000452361:M431L;ENSP00000369374:M459L;ENSP00000373654:M415L	ENSP00000369374:M459L	M	+	1	0	SKOR1	65906595	0.795000	0.28851	0.803000	0.32268	0.150000	0.21749	0.810000	0.27183	0.493000	0.27837	-0.543000	0.04237	ATG		0.781	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		17	61	0	0	0	0.146539	0	17	61					T	68119541	A	T	68119541	3	4	76	1	0	0	0	0	1	0	0	0	8686	217	8	5	1253	5	LBXCOR1	15	68119541	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	2900436	68119541	34411851	107	9982											
SLCO3A1	28232	broad.mit.edu	37	chr15	92690367	92690367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgccatggcacagacaCcctcagtcatcatcctcatc	7	16	4	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:92690367C>T	ENST00000318445.6	+	8	1880	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	556					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCACAGACACCCTCAGTCAT	0.582																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1666-1668)Ccc>Tcc		solute carrier organic anion transporter family, member 3A1							127	104	112					15																	92690367		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92690367C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1666C>T	15.37:g.92690367C>T	ENSP00000320634:p.Pro556Ser					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S	p.P556S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		8	1880	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		556					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1666C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978773	0.74360	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.42131	0.98;0.98	6.03	6.03	0.97812	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.56798	-0.7919	10	0.31617	T	0.26	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	498;556;556	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	556;556;275	ENSP00000320634:P556S;ENSP00000387846:P556S	ENSP00000320634:P556S	P	+	1	0	SLCO3A1	90491371	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	7.305000	0.78891	2.861000	0.98227	0.655000	0.94253	CCC		0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		69	283	0	0	0	0.139131	0	69	283					T	92690367	C	T	92690367	3	4	76	1	0	0	0	0	1	0	0	0	14778	507	18	2	1696	2	SLCO3A1	15	92690367	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	24570826	92690367	9841025	108	9983											
BTBD12	84464	broad.mit.edu	37	chr16	3639154	3639154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctattccccagggagccCgcgcccgaggacttctcttg	11	16	1	0	rs140872903		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:3639154C>T	ENST00000294008.3	-	12	5125	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGGAGCCCGCGCCCGAGG	0.647								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4483-4485)gcG>gcA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							75	89	84					16																	3639154		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639154C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4485G>A	16.37:g.3639154C>T							p.A1495A	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	5125	-			1495			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.4485G>A	CCDS10506.2																																																																																				0.647	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		158	652	0	0	0	0.139131	0	158	652					T	3639154	C	T	3639154	2	4	76	1	0	0	0	0	0	0	0	1	1544	639	23	1		1	BTBD12	16	3639154	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		3639154	86715599	109	9984											
GTF3C1	2975	broad.mit.edu	37	chr16	27481702	27481702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcagatggtgcttggaaatCgccacgtaaaaatcctacag	10	9	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:27481702C>A	ENST00000356183.4	-	31	4556	c.4541G>T	c.(4540-4542)cGa>cTa	p.R1514L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1514					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)			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						GCTTGGAAATCGCCACGTAAA	0.502																																						ENST00000356183.4																			0				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						c.(4540-4542)cGa>cTa		general transcription factor IIIC, polypeptide 1, alpha 220kDa							102	111	108					16																	27481702		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481702C>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.4541G>T	16.37:g.27481702C>A	ENSP00000348510:p.Arg1514Leu					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L	p.R1514L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4556	-			1514					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4541G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050089	0.93740	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26957	1.7	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.76574	2.34	0.48288	D	0.999624	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.53837	-0.8382	10	0.54805	T	0.06	-10.7008	19.1435	0.93455	0.0:1.0:0.0:0.0	.	1514;1514	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1514;1510	ENSP00000348510:R1514L	ENSP00000348510:R1514L	R	-	2	0	GTF3C1	27389203	1.000000	0.71417	0.982000	0.44146	0.971000	0.66376	6.537000	0.73847	2.614000	0.88457	0.585000	0.79938	CGA		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		6	635	1	0	0.217242	0.217242	0.299942	6	635					A	27481702	C	A	27481702	3	1	76	1	0	0	0	0	1	0	0	0	6902	884	31	3	1816	3	GTF3C1	16	27481702	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	23842548	27481702	62873051	110	9985											
RNF40	9810	broad.mit.edu	37	chr16	30778186	30778186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagaatctggcggccaAcgagcaggcgggtatgtggt	17	8	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:30778186A>G	ENST00000324685.6	+	11	1853	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	RNF40_ENST00000563683.1_Missense_Mutation_p.N433S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000402121.3_Missense_Mutation_p.N165S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	473					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGGCGGCCAACGAGCAGGCG	0.602																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(1417-1419)aAc>aGc		ring finger protein 40, E3 ubiquitin protein ligase							60	43	49					16																	30778186		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30778186A>G	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1418A>G	16.37:g.30778186A>G	ENSP00000325677:p.Asn473Ser					RNF40_ENST00000563683.1_Missense_Mutation_p.N433S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000402121.3_Missense_Mutation_p.N165S	p.N473S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		11	1853	+			473					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1418A>G	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804399	0.90623	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.26957	1.7;1.7;1.7	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.71674	0.977;0.998;0.995;0.995	P;D;D;D	0.69654	0.883;0.919;0.965;0.939	T	0.62096	-0.6926	10	0.72032	D	0.01	-18.9766	15.0705	0.72034	1.0:0.0:0.0:0.0	.	165;373;473;473	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	S	473;373;165	ENSP00000325677:N473S;ENSP00000350563:N373S;ENSP00000384942:N165S	ENSP00000325677:N473S	N	+	2	0	RNF40	30685687	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.711000	0.91396	2.199000	0.70637	0.533000	0.62120	AAC		0.602	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		14	96	0	0	0	0.132662	0	14	96					G	30778186	A	G	30778186	3	3	76	1	0	0	0	0	1	0	0	0	13543	43	2	4	1456	4	RNF40	16	30778186	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	3296484	30778186	59576567	111	9986											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	302						7	302	---	---	---	---	-	67913769	CAG	-	67913767	7	5	76	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HZ-A8P0-01A-11D-A36O-08	37135581	67913767	22440986	112	9987											
FOXF1	2294	broad.mit.edu	37	chr16	86544628	86544628	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaaggaaatgccaggcgctCaagcccatgtacagcatgat	11	11	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:86544628C>A	ENST00000262426.4	+	1	496	c.453C>A	c.(451-453)ctC>ctA	p.L151L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	151					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCAGGCGCTCAAGCCCATGT	0.667																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(451-453)ctC>ctA		forkhead box F1							42	52	49					16																	86544628		2198	4298	6496	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544628C>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.453C>A	16.37:g.86544628C>A							p.L151L	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	496	+			151					B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.453C>A	CCDS10957.2																																																																																				0.667	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		6	435	1	0	0.00116845	0.217242	0.0020137	6	435					A	86544628	C	A	86544628	2	1	76	1	0	0	0	0	0	0	0	1	6032	813	29	3		3	FOXF1	16	86544628	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	18630861	86544628	3810125	113	9988											
SERPINF2	5345	broad.mit.edu	37	chr17	1648635	1648635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttccgcagctaactagCgggccgaaccaggagcaggt	12	13	0	0	rs185025710	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:1648635C>T	ENST00000324015.3	+	4	188	c.111C>T	c.(109-111)agC>agT	p.S37S	SERPINF2_ENST00000382061.4_Silent_p.S37S|SERPINF2_ENST00000450523.2_Silent_p.S37S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	37					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	AGCTAACTAGCGGGCCGAACC	0.657													C|||	28	0.00559105	0.0	0.0	5008	,	,		10061	0.0248		0.001	False		,,,				2504	0.002					ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(109-111)agC>agT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)	C	,,	1,4405	2.1+/-5.4	0,1,2202	41	38	39		111,111,111	-8.6	0	17		39	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	SERPINF2	NM_000934.3,NM_001165920.1,NM_001165921.1	,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	37/492,37/492,37/428	1648635	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1648635C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.111C>T	17.37:g.1648635C>T						SERPINF2_ENST00000450523.2_Silent_p.S37S|SERPINF2_ENST00000382061.4_Silent_p.S37S	p.S37S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	188	+			37					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	37	c.111C>T	CCDS11011.1																																																																																				0.657	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		38	172	0	0	0	0.225048	0	38	172					T	1648635	C	T	1648635	2	4	76	1	0	0	0	0	0	0	0	1	14165	767	27	1		1	SERPINF2	17	1648635	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		1648635	79546575	114	9989											
NDEL1	81565	broad.mit.edu	37	chr17	8370257	8370257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccacagggcagtaaaCggctttgaccccgctcctcc	9	17	0	1	rs138863036	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8370257C>T	ENST00000334527.7	+	9	1151	c.954C>T	c.(952-954)aaC>aaT	p.N318N	NDEL1_ENST00000380025.4_Missense_Mutation_p.R268W|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	318	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						GGGCAGTAAACGGCTTTGACC	0.537													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		19481	0.0		0.0	False		,,,				2504	0.0					ENST00000380025.4																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(802-804)Cgg>Tgg		nudE neurodevelopment protein 1-like 1		C	,	6,4400	11.4+/-27.6	0,6,2197	123	117	119		,954	-0.2	1	17	dbSNP_134	119	0,8600		0,0,4300	no	utr-3,coding-synonymous	NDEL1	NM_001025579.1,NM_030808.3	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	,318/346	8370257	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370257C>T	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.954C>T	17.37:g.8370257C>T						NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000402554.3_3'UTR	p.R268W			Q9GZM8	NDEL1_HUMAN			8	960	+			0			Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	c.802C>T	CCDS11143.1																																																																																				0.537	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		49	274	0	0	0	0.139131	0	49	274					T	8370257	C	T	8370257	2	4	76	1	0	0	0	0	0	0	0	1	10286	535	19	1		1	NDEL1	17	8370257	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	6721622	8370257	72824953	115	9990											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			11	547						11	547	---	---	---	---	-	8415822	TTC	-	8415820	7	5	76	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-HZ-A8P0-01A-11D-A36O-08	45563	8415820	72779390	116	9991											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	185						8	185	---	---	---	---	-	17699995	GCA	-	17699993	7	5	76	1	0	1	0	1	0	0	0	0	13057	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-HZ-A8P0-01A-11D-A36O-08	9284173	17699993	63495217	117	9992											
NLK	51701	broad.mit.edu	37	chr17	26495642	26495642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctttgcagaactactaGgacgaagaatattgtttcag	9	6	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:26495642G>A	ENST00000407008.3	+	6	1724	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAACTACTAGGACGAAGAAT	0.413																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(1006-1008)Gga>Aga		nemo-like kinase							130	125	126					17																	26495642		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26495642G>A	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1006G>A	17.37:g.26495642G>A	ENSP00000384625:p.Gly336Arg						p.G336R	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	6	1724	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		336			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.1006G>A	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200775	0.79015	.	.	ENSG00000087095	ENST00000407008	T	0.41758	0.99	6.08	6.08	0.98989	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	0.36717	0.0977	N	0.12920	0.275	0.80722	D	1	B	0.26081	0.141	B	0.35353	0.201	T	0.22556	-1.0213	10	0.56958	D	0.05	-13.0763	19.6516	0.95815	0.0:0.0:1.0:0.0	.	336	Q9UBE8	NLK_HUMAN	R	336	ENSP00000384625:G336R	ENSP00000384625:G336R	G	+	1	0	NLK	23519769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GGA		0.413	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		69	273	0	0	0	0.139131	0	69	273					A	26495642	G	A	26495642	3	1	76	1	0	0	0	0	1	0	0	0	10508	1001	35	2	1028	2	NLK	17	26495642	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	8795649	26495642	54699568	118	9993											
GPR179	440435	broad.mit.edu	37	chr17	36485562	36485562	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaccacatctatgggctctGattttccccgggcctcccct	8	16	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36485562G>T	ENST00000342292.4	-	11	3910	c.3890C>A	c.(3889-3891)tCa>tAa	p.S1297*	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1297					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATGGGCTCTGATTTTCCCCG	0.582																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3889-3891)tCa>tAa		G protein-coupled receptor 179							45	47	46					17																	36485562		1921	4137	6058	SO:0001587	stop_gained	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485562G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3890C>A	17.37:g.36485562G>T	ENSP00000345060:p.Ser1297*						p.S1297*	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	3910	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1297						Nonsense_Mutation	SNP	ENST00000342292.4	37	c.3890C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	38	6.866372	0.97897	.	.	ENSG00000188888	ENST00000342292	.	.	.	4.97	4.97	0.65823	.	1.494310	0.04246	N	0.337834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1238	15.2627	0.73637	0.0:0.0:1.0:0.0	.	.	.	.	X	1297	.	ENSP00000345060:S1297X	S	-	2	0	GPR179	33739088	0.000000	0.05858	0.039000	0.18376	0.039000	0.13416	0.770000	0.26618	2.575000	0.86900	0.462000	0.41574	TCA		0.582	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	283	1	0	0.217242	0.217242	0.299942	5	283					T	36485562	G	T	36485562	4	4	76	1	0	0	0	0	0	1	0	0	6703	1294	45	3	3217	3	GPR179	17	36485562	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	9989920	36485562	44709648	119	9994											
PTRF	284119	broad.mit.edu	37	chr17	40557270	40557270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caacctccaccgcctcgtccGacgaaagctccagcgccgct	8	20	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:40557270G>T	ENST00000357037.5	-	2	1027	c.608C>A	c.(607-609)tCg>tAg	p.S203*		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCCTCGTCCGACGAAAGCTC	0.662																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(607-609)tCg>tAg		polymerase I and transcript release factor							83	88	86					17																	40557270		2203	4300	6503	SO:0001587	stop_gained	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557270G>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.608C>A	17.37:g.40557270G>T	ENSP00000349541:p.Ser203*						p.S203*	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1027	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	203						Nonsense_Mutation	SNP	ENST00000357037.5	37	c.608C>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	37	5.978629	0.97168	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	.	.	.	5.35	5.35	0.76521	.	0.067530	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0007	19.0756	0.93159	0.0:0.0:1.0:0.0	.	.	.	.	X	203;158	.	ENSP00000349541:S203X	S	-	2	0	PTRF	37810796	1.000000	0.71417	0.965000	0.40720	0.906000	0.53458	7.396000	0.79891	2.511000	0.84671	0.446000	0.29264	TCG		0.662	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		6	654	1	0	0.0381472	0.038147	0.0586695	6	654					T	40557270	G	T	40557270	4	4	76	1	0	0	0	0	0	1	0	0	12865	1059	37	3	568	3	PTRF	17	40557270	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	4071708	40557270	40637940	120	9995											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000499247.2_In_Frame_Del_p.P256del|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			8	194						8	194	---	---	---	---	-	48940612	GTG	-	48940610	7	5	76	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-HZ-A8P0-01A-11D-A36O-08	8383340	48940610	32254600	121	9996											
STK11	6794	broad.mit.edu	37	chr19	1207092	1207092	+	Frame_Shift_Del	DEL	C	C	-													ctgctgggggaaggctcttaCggcaaggtgaaggaggtgct							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:1207092delC	ENST00000326873.7	+	1	1353	c.180delC	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				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.?(3)|p.Y60fs*1(3)|p.Y60*(2)		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)		AAGGCTCTTACGGCAAGGTGA	0.622		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		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"		28	Whole gene deletion(20)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(2)	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)	cervix(15)|lung(8)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(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	GRCh37	CD064644|CM981863|CM991149	STK11	D|M		c.(178-180)tafs		serine/threonine kinase 11							42	46	45					19																	1207092		2088	4198	6286	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.chr19:1207092delC	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.180delC	19.37:g.1207092delC	ENSP00000324856:p.Tyr60fs	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron	p.Y60fs	NM_000455.4	NP_000446.1	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)	1	1353	+		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)	60			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.180delC	CCDS45896.1																																																																																				0.622	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		65	105						65	105	---	---	---	---	-	1207092	C	-	1207092	7	5	76	1	0	1	0	1	0	0	0	0	15339	547	19	0	182	0	STK11	19	1207092	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P0-01A-11D-A36O-08		1207092	57921891	122	9997											
ZNF557	79230	broad.mit.edu	37	chr19	7083689	7083689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatgaatgtaattattgCgggaaatccttcacaagtaa	7	8	1	1	rs372991686		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:7083689C>T	ENST00000439035.2	+	8	1446	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C	ZNF557_ENST00000252840.6_Silent_p.C409C|ZNF557_ENST00000414706.1_Silent_p.C409C			Q8N988	ZN557_HUMAN	zinc finger protein 557	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTAATTATTGCGGGAAATCCT	0.368																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1225-1227)tgC>tgT		zinc finger protein 557		C	,,	0,4344		0,0,2172	83	86	85		1227,1206,1227	-1.4	0	19		85	1,8567	1.2+/-3.3	0,1,4283	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	,,	0,1,6455	TT,TC,CC		0.0117,0.0,0.0077	,,	409/431,402/424,409/431	7083689	1,12911	2172	4284	6456	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083689C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1206C>T	19.37:g.7083689C>T						ZNF557_ENST00000439035.2_Silent_p.C402C|ZNF557_ENST00000252840.6_Silent_p.C409C	p.C409C	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1700	+			402					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.1227C>T	CCDS45945.1																																																																																				0.368	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		5	457	0	0	0	0.184627	0	5	457					T	7083689	C	T	7083689	2	4	76	1	0	0	0	0	0	0	0	1	18041	776	27	1		1	ZNF557	19	7083689	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	5876597	7083689	52045294	123	9998											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	724	0	0	0	0.217242	0	6	724					T	12575380	C	T	12575380	2	4	76	1	0	0	0	0	0	0	0	1	18166	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	5491691	12575380	46553603	124	9999											
CCDC123	84902	broad.mit.edu	37	chr19	33406284	33406284	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatttatgaacttccactgcGattttgccatccgagtgtgt	9	9	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:33406284G>T	ENST00000305768.5	-	14	1612	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	508					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCCACTGCGATTTTGCCAT	0.393																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1522-1524)atC>atA		centrosomal protein 89kDa							117	106	110					19																	33406284		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33406284G>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1524C>A	19.37:g.33406284G>T							p.I508I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			14	1612	-			508					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.1524C>A	CCDS32987.1																																																																																				0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		6	607	1	0	0.0293803	0.02938	0.0463599	6	607					T	33406284	G	T	33406284	2	4	76	1	0	0	0	0	0	0	0	1	2766	1048	37	3		3	CCDC123	19	33406284	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	20830904	33406284	25722699	125	10000											
ZNF181	339318	broad.mit.edu	37	chr19	35232318	35232318	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctaagaattcatacTcaagaaaaactctatgagtg	6	7	4	3	rs2607243		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:35232318T>G	ENST00000492450.1	+	4	1121	c.1032T>G	c.(1030-1032)acT>acG	p.T344T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000392232.3_Silent_p.T388T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1162-1164)acT>acG		zinc finger protein 181							69	69	69					19																	35232318		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232318T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1032T>G	19.37:g.35232318T>G						ZNF181_ENST00000459757.1_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T	p.T388T			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1332	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		344					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1164T>G	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	276	0	0	0	0.069234	0	7	276					G	35232318	T	G	35232318	2	3	76	1	0	0	0	0	0	0	0	1	17802	1538	54	4		4	ZNF181	19	35232318	Silent	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	1826034	35232318	23896665	126	10001											
TBCB	1155	broad.mit.edu	37	chr19	36616597	36616597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacgctacttcgaatgCcaggccaagtatggcgcctt	12	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:36616597C>T	ENST00000221855.3	+	6	1223	c.648C>T	c.(646-648)tgC>tgT	p.C216C	TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.C165C|TBCB_ENST00000586868.1_3'UTR	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	216	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.C216C(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTCGAATGCCAGGCCAAGT	0.562																																						ENST00000221855.3																			1	Substitution - coding silent(1)	p.C216C(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(646-648)tgC>tgT		tubulin folding cofactor B							260	251	254					19																	36616597		2203	4300	6503	SO:0001819	synonymous_variant	1155				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	g.chr19:36616597C>T	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.648C>T	19.37:g.36616597C>T						TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.C165C	p.C216C	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1223	+	Esophageal squamous(110;0.162)		216			CAP-Gly.		O00111|O00674|O14728|Q6FGY5	Silent	SNP	ENST00000221855.3	37	c.648C>T	CCDS12488.1																																																																																				0.562	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		8	1059	0	0	0	0.02938	0	8	1059					T	36616597	C	T	36616597	2	4	76	1	0	0	0	0	0	0	0	1	15682	747	26	2		2	TBCB	19	36616597	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1384279	36616597	22512386	127	10002											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908691	39908691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctgttctctcggatGctgctggtggccaagcgcag	12	13	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:39908691G>T	ENST00000409794.3	+	9	1879	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCGGATGCTGCTGGTGG	0.612																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1027-1029)atG>atT		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							19	19	19					19																	39908691		2203	4298	6501	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908691G>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1029G>T	19.37:g.39908691G>T	ENSP00000386733:p.Met343Ile					PLEKHG2_ENST00000409794.3_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I	p.M343I			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1354	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		343			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1029G>T	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.10|19.10	3.761628|3.761628	0.69763|0.69763	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|D;D;D;D;D	.|0.87412	.|-2.25;-2.25;-2.25;-2.25;-2.25	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88235|0.88235	0.6382|0.6382	L|L	0.52573|0.52573	1.65|1.65	0.49915|0.49915	D|D	0.999832|0.999832	.|B;B;B;B	.|0.31599	.|0.33;0.136;0.222;0.198	.|P;B;B;B	.|0.44897	.|0.463;0.214;0.183;0.343	D|D	0.85506|0.85506	0.1194|0.1194	5|10	.|0.30854	.|T	.|0.27	.|.	16.8319|16.8319	0.85946|0.85946	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|343;343;284;343	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	F|I	240|343;343;343;284;343	.|ENSP00000386733:M343I;ENSP00000392906:M343I;ENSP00000367812:M343I;ENSP00000408857:M284I;ENSP00000386492:M343I	.|ENSP00000367812:M343I	C|M	+|+	2|3	0|0	PLEKHG2|PLEKHG2	44600531|44600531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	3.401000|3.401000	0.52601|0.52601	2.606000|2.606000	0.88127|0.88127	0.556000|0.556000	0.70494|0.70494	TGC|ATG		0.612	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		8	62	1	0	0.0477658	0.047766	0.0725442	8	62					T	39908691	G	T	39908691	3	4	76	1	0	0	0	0	1	0	0	0	12111	1319	46	3	1059	3	PLEKHG2	19	39908691	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	3292094	39908691	19220292	128	10003											
C19orf63	284361	broad.mit.edu	37	chr19	50981234	50981234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggcacggtggggctgCtgctggagcactcatttgag	16	10	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:50981234C>T	ENST00000334976.6	+	2	209	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000376918.3_Silent_p.L55L|FAM71E1_ENST00000595790.1_5'Flank|EMC10_ENST00000598585.1_Silent_p.L55L|FAM71E1_ENST00000600100.1_5'Flank	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	55						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											GGTGGGGCTGCTGCTGGAGCA	0.602																																						ENST00000376918.3																			0											c.(163-165)Ctg>Ttg		ER membrane protein complex subunit 10							115	107	109					19																	50981234		2203	4300	6503	SO:0001819	synonymous_variant	284361							g.chr19:50981234C>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.163C>T	19.37:g.50981234C>T						EMC10_ENST00000334976.6_Silent_p.L55L|EMC10_ENST00000598585.1_Silent_p.L55L	p.L55L	NM_175063.4	NP_778233.4					2	209	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Silent	SNP	ENST00000334976.6	37	c.163C>T	CCDS12796.1																																																																																				0.602	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		11	41	0	0	0	0.069234	0	11	41					T	50981234	C	T	50981234	2	4	76	1	0	0	0	0	0	0	0	1	1952	796	28	2		2	C19orf63	19	50981234	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	11072543	50981234	8147749	129	10004											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628233	51628235	+	Start_Codon_Del	DEL	TGC	TGC	-													ggcacctctaaccccagacaTgctgctgctgctgctgcccc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:51628233_51628235delTGC	ENST00000250360.3	+	0	69_71				SIGLEC9_ENST00000440804.3_Start_Codon_Del	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								sialic acid binding Ig-like lectin 9																																				SO:0001582	initiator_codon_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628233_51628235delTGC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336			19.37:g.51628242_51628244delTGC						SIGLEC9_ENST00000250360.3_Start_Codon_Del		NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	0	69_71	+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Translation_Start_Site	DEL	ENST00000250360.3	37		CCDS12825.1																																																																																				0.611	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	178						9	178	---	---	---	---	-	51628235	TGC	-	51628233	7	5	76	1	0	1	0	1	0	0	0	0	14365	1464	51	0	4	0	SIGLEC9	19	51628233	Start_Codon_Del	DEL	TGC	TCGA-HZ-A8P0-01A-11D-A36O-08	646999	51628233	7500750	130	10005											
MYADM	91663	broad.mit.edu	37	chr19	54377360	54377360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatcttcgcgttcatcagcGaccccaacctgtaccagcac	6	17	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:54377360G>T	ENST00000391769.2	+	3	857	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	193	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCATCAGCGACCCCAACCT	0.642																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(577-579)Gac>Tac		myeloid-associated differentiation marker							163	136	145					19																	54377360		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377360G>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.577G>T	19.37:g.54377360G>T	ENSP00000375649:p.Asp193Tyr					MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y	p.D193Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	857	+	Ovarian(34;0.19)		193			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.577G>T	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	3.909	-0.020465	0.07634	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.21	-5.25	0.02781	Marvel (1);MARVEL-like domain (1);	1.023760	0.07811	N	0.958108	T	0.27098	0.0664	L	0.41710	1.295	0.09310	N	1	P	0.42941	0.794	P	0.46076	0.503	T	0.41431	-0.9509	10	0.56958	D	0.05	-2.8128	14.9568	0.71120	0.1028:0.0:0.8972:0.0	.	193	Q96S97	MYADM_HUMAN	Y	193;193;193;193;193;156;193;193	ENSP00000398269:D193Y;ENSP00000337222:D193Y;ENSP00000375650:D193Y;ENSP00000416919:D193Y;ENSP00000375651:D193Y;ENSP00000375649:D193Y;ENSP00000375648:D193Y	ENSP00000337222:D193Y	D	+	1	0	MYADM	59069172	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.121000	0.15667	-1.181000	0.02730	-0.657000	0.03884	GAC		0.642	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		8	425	1	0	0.0581538	0.058154	0.0866955	8	425					T	54377360	G	T	54377360	3	4	76	1	0	0	0	0	1	0	0	0	10047	1058	37	3	579	3	MYADM	19	54377360	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	2749127	54377360	4751623	131	10006											
NLRP13	126204	broad.mit.edu	37	chr19	56416346	56416346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggggtgagtcagggcCgcacacaatagctttatgcc	12	11	1	1	rs375756102		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:56416346C>T	ENST00000342929.3	-	8	2579	c.2580G>A	c.(2578-2580)gcG>gcA	p.A860A	NLRP13_ENST00000588751.1_Silent_p.A860A	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							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)		GAGTCAGGGCCGCACACAATA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17211	0.0		0.0	False		,,,				2504	0.0					ENST00000588751.1																			0				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						c.(2578-2580)gcG>gcA		NLR family, pyrin domain containing 13		C		1,4405	2.1+/-5.4	0,1,2202	125	101	109		2580	-4.4	0	19		109	0,8600		0,0,4300	no	coding-synonymous	NLRP13	NM_176810.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		860/1044	56416346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56416346C>T	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.2580G>A	19.37:g.56416346C>T						NLRP13_ENST00000342929.3_Silent_p.A860A	p.A860A			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	8	2604	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	860					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2580G>A	CCDS33119.1																																																																																				0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		31	116	0	0	0	0.173368	0	31	116					T	56416346	C	T	56416346	2	4	76	1	0	0	0	0	0	0	0	1	10517	639	23	1		1	NLRP13	19	56416346	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	2038986	56416346	2712637	132	10007											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	398						9	398	---	---	---	---	-	25657232	TG	-	25657231	7	5	76	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-HZ-A8P0-01A-11D-A36O-08		25657231	37368289	133	10008											
BCAS1	8537	broad.mit.edu	37	chr20	52611567	52611567	+	Frame_Shift_Del	DEL	T	T	-													ctaccgtgtcttctgggtccTtttttgtttcagctttgtta							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:52611567delT	ENST00000395961.3	-	6	1077	c.911delA	c.(910-912)aagfs	p.K304fs	BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K304fs|BCAS1_ENST00000434986.2_Frame_Shift_Del_p.K17fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K304fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	304						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)			TTCTGGGTCCTTTTTTGTTTC	0.338																																						ENST00000395961.3																			0				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						c.(910-912)agfs		breast carcinoma amplified sequence 1							181	194	190					20																	52611567		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52611567delT	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.911delA	20.37:g.52611567delT	ENSP00000379290:p.Lys304fs					BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K304fs|BCAS1_ENST00000434986.2_Frame_Shift_Del_p.K17fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K304fs	p.K304fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		6	1077	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		304					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.911delA	CCDS13444.1																																																																																				0.338	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	799						7	799	---	---	---	---	-	52611567	T	-	52611567	7	5	76	1	0	1	0	1	0	0	0	0	1351	1609	56	0	871	0	BCAS1	20	52611567	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08	26954336	52611567	10413953	134	10009											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			8	1371						8	1371	---	---	---	---	-	34799292	T	-	34799292	7	5	76	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08		34799292	13330603	135	10010											
BRD1	23774	broad.mit.edu	37	chr22	50167946	50167946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggtggttcatggcgcGgtcaaaagcgatccgcacgg	15	11	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:50167946G>A	ENST00000216267.8	-	12	3598	c.3112C>T	c.(3112-3114)Cgc>Tgc	p.R1038C	BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1038					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCATGGCGCGGTCAAAAGCG	0.577																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(3112-3114)Cgc>Tgc		bromodomain containing 1							132	130	130					22																	50167946		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50167946G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.3112C>T	22.37:g.50167946G>A	ENSP00000216267:p.Arg1038Cys					BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000457780.2_3'UTR	p.R1038C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	12	3598	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	1038					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.3112C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086445	0.36855	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.89	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.965;0.998	T	0.53767	-0.8392	10	0.38643	T	0.18	.	14.6564	0.68835	0.0:0.0:0.853:0.147	.	1169;764;1038;1169	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	C	1038;1038;1169;726;764;629	ENSP00000216267:R1038C;ENSP00000384076:R1038C;ENSP00000385858:R1169C;ENSP00000437514:R726C;ENSP00000345886:R764C	ENSP00000216267:R1038C	R	-	1	0	BRD1	48553950	1.000000	0.71417	0.962000	0.40283	0.169000	0.22640	9.458000	0.97634	1.161000	0.42604	0.655000	0.94253	CGC		0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		7	884	0	0	0	0.02938	0	7	884					A	50167946	G	A	50167946	3	1	76	1	0	0	0	0	1	0	0	0	1505	1116	39	1	68	1	BRD1	22	50167946	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		50167946	1136620	136	10011											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	339	0	0	0	0.217242	0	6	339					G	37028425	A	G	37028425	3	3	76	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08		37028425	118242135	137	10012											
BCOR	54880	broad.mit.edu	37	chrX	39933796	39933797	+	Frame_Shift_Del	DEL	GA	GA	-													ctggggaggccgaaggtgtcGagagcctcatgggtgatgcc							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:39933796_39933797delGA	ENST00000378444.4	-	4	1030_1031	c.802_803delTC	c.(802-804)tcgfs	p.S268fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S268fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.S268fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	268					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGAAGGTGTCGAGAGCCTCATG	0.609			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(802-804)gfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933796_39933797delGA	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.802_803delTC	X.37:g.39933798_39933799delGA	ENSP00000367705:p.Ser268fs					BCOR_ENST00000397354.3_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S268fs	p.S268fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1164_1165	-			268					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.802_803delTC	CCDS48093.1																																																																																				0.609	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		17	40						17	40	---	---	---	---	-	39933797	GA	-	39933796	7	5	76	1	0	1	0	1	0	0	0	0	1387	1059	37	0	4512	0	BCOR	23	39933796	Frame_Shift_Del	DEL	GA	TCGA-HZ-A8P0-01A-11D-A36O-08	2905371	39933796	115336764	138	10013											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		14	352						14	352	---	---	---	---	-	110406208	GAA	-	110406206	7	5	76	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-HZ-A8P0-01A-11D-A36O-08	70472410	110406206	44864354	139	10014											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-													ctgacaatcttacctcatcaTtttttttgttattggattca							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221	189	200					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		7	388						7	388	---	---	---	---	-	142605149	T	-	142605149	7	5	76	1	0	1	0	1	0	0	0	0	15044	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P0-01A-11D-A36O-08	32198943	142605149	12665411	140	10015											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	235	0	0	0	0.184627	0	5	235					A	150156360	G	A	150156360	2	1	76	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	7551211	150156360	5114200	141	10016											
ARHGAP4	393	broad.mit.edu	37	chrX	153173252	153173253	+	Frame_Shift_Ins	INS	-	-	C													gtgaggctggggccccagggINSccccgggagaagcctttgtt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:153173252_153173253insC	ENST00000350060.5	-	22	2812_2813	c.2771_2772insG	c.(2770-2772)ggcfs	p.G924fs	ARHGAP4_ENST00000537206.1_Frame_Shift_Ins_p.G901fs|ARHGAP4_ENST00000393721.1_Frame_Shift_Ins_p.G746fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Ins_p.G903fs|ARHGAP4_ENST00000370028.3_Frame_Shift_Ins_p.G964fs|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	924					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCCAGGGCCCCGGGAGAA	0.713																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2890-2892)gccfs		Rho GTPase activating protein 4																																				SO:0001589	frameshift_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173252_153173253insC	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2772dupG	X.37:g.153173256_153173256dupC	ENSP00000203786:p.Gly924fs					ARHGAP4_ENST00000393721.1_Frame_Shift_Ins_p.A746fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Ins_p.A903fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Ins_p.A901fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Ins_p.A924fs	p.A964fs	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			23	2948_2949	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		924					Q14144|Q86UY3	Frame_Shift_Ins	INS	ENST00000350060.5	37	c.2891_2892insG	CCDS14736.1																																																																																				0.713	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		7	128						7	128	---	---	---	---	C	153173253	-	C	153173252	7	5	76	1	0	1	1	0	0	0	0	0	885	1190	42	0	72	0	ARHGAP4	23	153173252	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08	3016892	153173252	2097308	142	10017											
NBPF3	84224	broad.mit.edu	37	chr1	21798095	21798095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcactctcaggaacgAgagctgacccagttaaggga	12	10	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:21798095A>G	ENST00000318249.5	+	5	830	c.480A>G	c.(478-480)cgA>cgG	p.R160R	NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000318220.6_Silent_p.R104R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGGAACGAGAGCTGACCC	0.473																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(310-312)cgA>cgG		neuroblastoma breakpoint family, member 3							118	131	127					1																	21798095		2202	4296	6498	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21798095A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.480A>G	1.37:g.21798095A>G						NBPF3_ENST00000318249.5_Silent_p.R160R|NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R	p.R104R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1360	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	160					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.312A>G	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	556	0	0	0	1	0	6	556					G	21798095	A	G	21798095	2	3	77	1	0	0	0	0	0	0	0	1	10239	291	11	4		4	NBPF3	1	21798095	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08		21798095	227452526	1	10018											
EPHB2	2048	broad.mit.edu	37	chr1	23240039	23240039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgcgggcgcagatgaaCcagattcagtctgtggaggt	16	7	2	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.N980N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2935-2937)aaC>aaT		EPH receptor B2							87	90	89					1																	23240039		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240039C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2937C>T	1.37:g.23240039C>T						EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374632.3_Silent_p.N980N	p.N979N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	16	2955	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	979					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2937C>T																																																																																					0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		50	69	0	0	0	1	0	50	69					T	23240039	C	T	23240039	2	4	77	1	0	0	0	0	0	0	0	1	5193	506	18	2		2	EPHB2	1	23240039	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	1441944	23240039	226010582	2	10019											
ARID1A	8289	broad.mit.edu	37	chr1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-													cgaggatggagctaagagttCagaggccatcaaggagagca							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000324856.7	+	20	6160	c.5789delC	c.(5788-5790)tcafs	p.S1930fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5788-5790)tafs		AT rich interactive domain 1A (SWI-like)							129	125	127					1																	27106178		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106178delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5789delC	1.37:g.27106178delC	ENSP00000320485:p.Ser1930fs					ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs	p.S1930fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6160	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1930					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5789delC	CCDS285.1																																																																																				0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		155	178						155	178	---	---	---	---	-	27106178	C	-	27106178	7	5	77	1	0	1	0	1	0	0	0	0	913	838	29	0	5867	0	ARID1A	1	27106178	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08	3866139	27106178	222144443	3	10020											
MATN1	4146	broad.mit.edu	37	chr1	31191606	31191606	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcctcctggaacttccTggacagcttctcgatgacgc	11	13	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(640-642)Agg>Cgg		matrilin 1, cartilage matrix protein							42	38	39					1																	31191606		2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31191606T>G	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.640A>C	1.37:g.31191606T>G						MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR	p.R214R	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	3	675	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	214			VWFA 1.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.640A>C	CCDS336.1																																																																																				0.706	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		32	36	0	0	0	1	0	32	36					G	31191606	T	G	31191606	2	3	77	1	0	0	0	0	0	0	0	1	9374	1579	55	4		4	MATN1	1	31191606	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	4085428	31191606	218059015	4	10021											
CYP4X1	260293	broad.mit.edu	37	chr1	47514244	47514244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctttcttagggatcacCgtggttcttagtatttgggg	11	9	3	0	rs190394183	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		19642	0.002		0.0	False		,,,				2504	0.0					ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1213-1215)acC>acT		cytochrome P450, family 4, subfamily X, polypeptide 1							216	232	227					1																	47514244		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47514244C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1215C>T	1.37:g.47514244C>T						CYP4X1_ENST00000538609.1_Silent_p.T404T	p.T405T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			10	1465	+			405					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.1215C>T	CCDS544.1																																																																																				0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		13	523	0	0	0	1	0	13	523					T	47514244	C	T	47514244	2	4	77	1	0	0	0	0	0	0	0	1	4204	639	23	1		1	CYP4X1	1	47514244	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	16322638	47514244	201736377	5	10022											
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccacaccaatattcagtCtagattggtttaatcttgaa	6	8	3	2	rs200084732	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		4	108	0	0	0	1	0	4	108					T	53692717	C	T	53692717	2	4	77	1	0	0	0	0	0	0	0	1	9235	924	32	2		2	MAGOH	1	53692717	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	6178473	53692717	195557904	6	10023											
ACADM	34	broad.mit.edu	37	chr1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgcaaatcagttagctActgatgctgtgcagatactt	8	7	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TCAGTTAGCTACTGATGCTGT	0.393																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						c.(1108-1110)Act>Gct		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							160	152	155					1																	76226969		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76226969A>G	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1108A>G	1.37:g.76226969A>G	ENSP00000359878:p.Thr370Ala					ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	p.T370A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			11	1545	+			370					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.1108A>G	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475492	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.21	-0.354	0.12591	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.749864	0.13164	N	0.408858	D	0.84479	0.5481	L	0.39514	1.22	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.003;0.005;0.007;0.002;0.005	T	0.76751	-0.2844	10	0.56958	D	0.05	.	6.9288	0.24429	0.3076:0.0:0.0733:0.619	.	334;284;403;374;370	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	A	370;403;334;181;374	ENSP00000359878:T370A;ENSP00000359871:T403A;ENSP00000442324:T334A;ENSP00000446176:T181A;ENSP00000409612:T374A	ENSP00000359871:T403A	T	+	1	0	ACADM	75999557	0.000000	0.05858	0.515000	0.27774	0.808000	0.45660	-2.126000	0.01316	-0.251000	0.09542	0.482000	0.46254	ACT		0.393	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			119	159	0	0	0	1	0	119	159					G	76226969	A	G	76226969	3	3	77	1	0	0	0	0	1	0	0	0	113	391	14	4	1162	4	ACADM	1	76226969	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	22534252	76226969	173023652	7	10024											
NBPF14	25832	broad.mit.edu	37	chr1	148017611	148017611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgagagagtcgaataAccttcatcccaggactcctg	10	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(670-672)ggT>ggC		neuroblastoma breakpoint family, member 14							38	48	44					1																	148017611		1403	2580	3983	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148017611A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.672T>C	1.37:g.148017611A>G							p.G224G			Q5TI25	NBPFE_HUMAN			6	688	-	all_hematologic(923;0.032)		224			NBPF 2.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.672T>C		.	.	.	.	.	.	.	.	.	.	a	0.613	-0.824159	0.02755	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	2	.	.	.	.	.	.	.	.	.	.	.	A	230;235;235;235;235;235;235;235	.	.	V	-	2	0	NBPF14	146484235	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.794000	0.26958	-0.557000	0.06126	-0.558000	0.04189	GTT		0.493	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		237	2251	0	0	0	1	0	237	2251					G	148017611	A	G	148017611	2	3	77	1	0	0	0	0	0	0	0	1	10236	30	2	4		4	NBPF14	1	148017611	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	71790642	148017611	101233010	8	10025											
FLG2	388698	broad.mit.edu	37	chr1	152327376	152327376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcctgatccatgttgGccaaagccagaggattgacc	11	12	0	4	rs34506790		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:152327376G>A	ENST00000388718.5	-	3	2958	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	962	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)			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)			ATCCATGTTGGCCAAAGCCAG	0.498																																						ENST00000388718.5																			0				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						c.(2884-2886)ggC>ggT		filaggrin family member 2							269	271	270					1																	152327376		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327376G>A	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.2886C>T	1.37:g.152327376G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G962G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2958	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		962			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2886C>T	CCDS30861.1																																																																																				0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1563	0	0	0	1	0	8	1563					A	152327376	G	A	152327376	2	1	77	1	0	0	0	0	0	0	0	1	5948	1190	42	2		2	FLG2	1	152327376	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	4309765	152327376	96923245	9	10026											
USH2A	7399	broad.mit.edu	37	chr1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccagggtagtaactTcttcctttcctttgactctt	7	11	3	1	rs267598377		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000307340.3	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAACTTCTTCCTTTCC	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8002-8004)gAa>gGa		Usher syndrome 2A (autosomal recessive, mild)							83	89	87					1																	216061988		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061988T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8003A>G	1.37:g.216061988T>C	ENSP00000305941:p.Glu2668Gly	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	p.E2668G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8389	-			2668			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8003A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823185	0.32237	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.84	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.755657	0.11112	N	0.598495	T	0.53642	0.1809	L	0.56396	1.775	0.33957	D	0.645209	B	0.32653	0.379	B	0.38378	0.272	T	0.56553	-0.7960	10	0.31617	T	0.26	.	12.7182	0.57127	0.0:0.0:0.2598:0.7402	.	2668	O75445	USH2A_HUMAN	G	2668	ENSP00000305941:E2668G;ENSP00000355910:E2668G	ENSP00000305941:E2668G	E	-	2	0	USH2A	214128611	1.000000	0.71417	0.178000	0.23040	0.663000	0.39108	3.614000	0.54160	0.422000	0.26005	0.533000	0.62120	GAA		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	361	0	0	0	1	0	14	361					C	216061988	T	C	216061988	3	2	77	1	0	0	0	0	1	0	0	0	17090	1783	62	4	7733	4	USH2A	1	216061988	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	63734612	216061988	33188633	10	10027											
ESRRG	2104	broad.mit.edu	37	chr1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaccaactctcggtcgGccaagtcacacagtgtagtg	9	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000408911.3	-	5	968	c.815C>T	c.(814-816)gCc>gTc	p.A272V	ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463																																						ENST00000391890.3																			1	Substitution - Missense(1)	p.A272V(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(766-768)gCc>gTc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						178	156	163					1																	216737608		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737608G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.815C>T	1.37:g.216737608G>A	ENSP00000386171:p.Ala272Val					ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A272V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V	p.A256V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1284	-			272					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.767C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	ESRRG	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC		0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		6	473	0	0	0	1	0	6	473					A	216737608	G	A	216737608	3	1	77	1	0	0	0	0	1	0	0	0	5280	1203	42	2	573	2	ESRRG	1	216737608	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	675620	216737608	32513013	11	10028											
TLR5	7100	broad.mit.edu	37	chr1	223285330	223285330	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaactgtaaagttccccCagaaggttatatgacaaatt	7	8	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1042-1044)ctG>ctC		toll-like receptor 5							93	93	93					1																	223285330		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285330C>G		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1044G>C	1.37:g.223285330C>G						TLR5_ENST00000342210.6_Silent_p.L348L	p.L348L			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1505	-			348					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1044G>C	CCDS31033.1																																																																																				0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		149	462	0	0	0	1	0	149	462					G	223285330	C	G	223285330	2	3	77	1	0	0	0	0	0	0	0	1	16006	581	21	5		5	TLR5	1	223285330	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	6547722	223285330	25965291	12	10029											
APOB	338	broad.mit.edu	37	chr2	21228602	21228602	+	Frame_Shift_Del	DEL	T	T	-													agaatgaatagccattggggTttttggtgtacacaaaggca							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:21228602delT	ENST00000233242.1	-	26	11265	c.11138delA	c.(11137-11139)aacfs	p.N3713fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3713					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)			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)					GCCATTGGGGTTTTTGGTGTA	0.398																																						ENST00000233242.1																			0				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						c.(11137-11139)acfs		apolipoprotein B	Atorvastatin(DB01076)						98	95	96					2																	21228602		2203	4300	6503	SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228602delT	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.11138delA	2.37:g.21228602delT	ENSP00000233242:p.Asn3713fs						p.N3713fs	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11265	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3713					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.11138delA	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	501						7	501	---	---	---	---	-	21228602	T	-	21228602	7	5	77	1	0	1	0	1	0	0	0	0	785	1725	60	0	2569	0	APOB	2	21228602	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P1-01A-11D-A377-08		21228602	221970771	13	10030											
PSME4	23198	broad.mit.edu	37	chr2	54093911	54093911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggatcatttagatgTgcactgagattcatgaggag	14	5	2	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.A934A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5368-5370)gcA>gcG		proteasome (prosome, macropain) activator subunit 4							120	101	107					2																	54093911		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093911T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5370A>G	2.37:g.54093911T>C						PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.A934A	p.A1790A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		45	5425	-			1790					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.5370A>G	CCDS33197.2																																																																																				0.423	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		44	74	0	0	0	1	0	44	74					C	54093911	T	C	54093911	2	2	77	1	0	0	0	0	0	0	0	1	12756	1683	59	4		4	PSME4	2	54093911	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	32865309	54093911	189105462	14	10031											
FAM123C	205147	broad.mit.edu	37	chr2	131520725	131520725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagggaccctcgcagCggctccaaagccagctccat	10	18	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	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	360					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACCCTCGCAGCGGCTCCAAAG	0.652																																						ENST00000423981.1																			0											c.(1078-1080)agC>agT		APC membrane recruitment protein 3							40	38	39					2																	131520725		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520725C>T	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.1080C>T	2.37:g.131520725C>T						AMER3_ENST00000321420.4_Silent_p.S360S	p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1190	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1080C>T	CCDS2164.1																																																																																				0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		6	145	0	0	0	1	0	6	145					T	131520725	C	T	131520725	2	4	77	1	0	0	0	0	0	0	0	1	5445	767	27	1		1	FAM123C	2	131520725	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	77426814	131520725	111678648	15	10032											
LRP1B	53353	broad.mit.edu	37	chr2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggttttttccaatccaatCgacagcaagtgcattgggga	11	8	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					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)			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)		CCAATCCAATCGACAGCAAGT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9283-9285)Gat>Aat		low density lipoprotein receptor-related protein 1B							128	119	122					2																	141243054		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243054C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9283G>A	2.37:g.141243054C>T	ENSP00000374135:p.Asp3095Asn	TSP Lung(27;0.18)					p.D3095N	NM_018557.2	NP_061027.2	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	10254	-		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)	3095					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9283G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839800	0.97009	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98876	-5.2	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.90369	3.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	10	0.87932	D	0	.	19.5951	0.95533	0.0:1.0:0.0:0.0	.	3095	Q9NZR2	LRP1B_HUMAN	N	3095;3033	ENSP00000374135:D3095N	ENSP00000374135:D3095N	D	-	1	0	LRP1B	140959524	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.501000	0.81600	2.693000	0.91896	0.650000	0.86243	GAT		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	359	0	0	0	1	0	5	359					T	141243054	C	T	141243054	3	4	77	1	0	0	0	0	1	0	0	0	8993	884	31	1	4648	1	LRP1B	2	141243054	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	9722329	141243054	101956319	16	10033											
GALNT13	114805	broad.mit.edu	37	chr2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgtgaatgcacgttagGatggctggagcctttgctgg	14	8	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	216	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCACGTTAGGATGGCTGGAG	0.473																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(646-648)gGa>gAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82	77	79					2																	155099379		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099379G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.647G>A	2.37:g.155099379G>A	ENSP00000376570:p.Gly216Glu					GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1214	+			216			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.647G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189933	0.94923	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80091	-0.1527	10	0.66056	D	0.02	.	19.0704	0.93134	0.0:0.0:1.0:0.0	.	216;216;216	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	E	216	ENSP00000376570:G216E;ENSP00000387239:G216E	ENSP00000376570:G216E	G	+	2	0	GALNT13	154807625	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.747000	0.94245	0.591000	0.81541	GGA		0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		5	166	0	0	0	1	0	5	166					A	155099379	G	A	155099379	3	1	77	1	0	0	0	0	1	0	0	0	6239	1174	41	2	661	2	GALNT13	2	155099379	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	13856325	155099379	88099994	17	10034											
IFIH1	64135	broad.mit.edu	37	chr2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accatcacaatactcatcatCaccaccctcatcactatcat	0	17	7	0	rs567418553	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1948-1950)Gat>Tat		interferon induced with helicase C domain 1							119	99	106					2																	163134021		2202	4298	6500	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134021C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1948G>T	2.37:g.163134021C>A	ENSP00000263642:p.Asp650Tyr						p.D650Y	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			10	2343	-			650					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1948G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461433	0.43736	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.07	2.26	0.28386	.	0.611706	0.14567	N	0.311694	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	P	0.44090	0.826	B	0.41088	0.347	T	0.19679	-1.0298	10	0.48119	T	0.1	-4.9411	10.219	0.43186	0.0:0.7829:0.0:0.2171	.	650	Q9BYX4	IFIH1_HUMAN	Y	650	ENSP00000263642:D650Y	ENSP00000263642:D650Y	D	-	1	0	IFIH1	162842267	0.001000	0.12720	0.003000	0.11579	0.450000	0.32258	0.372000	0.20467	0.728000	0.32382	0.655000	0.94253	GAT		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		5	217	1	0	0.014758	1	0.0148448	5	217					A	163134021	C	A	163134021	3	1	77	1	0	0	0	0	1	0	0	0	7550	826	29	3	1157	3	IFIH1	2	163134021	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	8034642	163134021	80065352	18	10035											
TTN	7273	broad.mit.edu	37	chr2	179578044	179578044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattacaactgaggagccGgatagaccatttgtctcttt	8	10	1	2	rs370757633		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000591111.1	-	91	26090	c.25866C>T	c.(25864-25866)tcC>tcT	p.S8622S	TTN_ENST00000589042.1_Silent_p.S8939S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12780	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGAGCCGGATAGACCAT	0.393																																						ENST00000589042.1																			0				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						c.(26815-26817)tcC>tcT		titin		G	,,,	1,3717		0,1,1858	59	50	53		,23085,,	-2.7	0.7	2		53	0,8196		0,0,4098	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5956	AA,AG,GG		0.0,0.0269,0.0084	,,,	,7695/33424,,	179578044	1,11913	1859	4098	5957	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578044G>A	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.25866C>T	2.37:g.179578044G>A						TTN_ENST00000591111.1_Silent_p.S8622S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.S8939S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	27041	-			8622			Ig-like 72.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.26817C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	36	0	0	0	1	0	3	36					A	179578044	G	A	179578044	2	1	77	1	0	0	0	0	0	0	0	1	16789	1103	39	1		1	TTN	2	179578044	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	16444023	179578044	63621329	19	10036											
ANKAR	150709	broad.mit.edu	37	chr2	190597916	190597916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaatgaaggatttgaAtatgctgatgtcctttatct	8	5	1	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E|ANKAR_ENST00000313581.4_Silent_p.E1128E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3382-3384)gaA>gaG		ankyrin and armadillo repeat containing							145	136	139					2																	190597916		2203	4299	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190597916A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3384A>G	2.37:g.190597916A>G						ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E|ANKAR_ENST00000313581.4_Silent_p.E1128E	p.E1128E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		17	3472	+			1128					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3384A>G	CCDS33351.2																																																																																				0.333	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		88	162	0	0	0	1	0	88	162					G	190597916	A	G	190597916	2	3	77	1	0	0	0	0	0	0	0	1	623	98	4	4		4	ANKAR	2	190597916	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	11019872	190597916	52601457	20	10037											
C2orf88	84281	broad.mit.edu	37	chr2	191064754	191064754	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacctccagggaccaatacTgtgatcttggaatatgcaca	9	10	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000396974.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	56	PKA-RI-binding.		T -> I (in dbSNP:rs6753459). {ECO:0000269|PubMed:15489334}.			plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(166-168)acT>acG		chromosome 2 open reading frame 88							189	192	191					2																	191064754		1980	4154	6134	SO:0001819	synonymous_variant	84281							g.chr2:191064754T>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"small membrane AKAP"	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.168T>G	2.37:g.191064754T>G						C2orf88_ENST00000396974.2_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T	p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	579	+			56		T -> I (in dbSNP:rs6753459).			D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	37	c.168T>G	CCDS42792.1																																																																																				0.453	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		170	382	0	0	0	1	0	170	382					G	191064754	T	G	191064754	2	3	77	1	0	0	0	0	0	0	0	1	2209	1567	55	4		4	C2orf88	2	191064754	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	466838	191064754	52134619	21	10038											
ANKRD44	91526	broad.mit.edu	37	chr2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtgcccataggcggCagcataatgtatgctattgt	11	10	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1543-1545)Gcc>Acc		ankyrin repeat domain 44							109	92	98					2																	197943459		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197943459C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1543G>A	2.37:g.197943459C>T	ENSP00000331516:p.Ala515Thr					ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T	p.A515T			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1619	-			540					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1543G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725981	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72942	-0.37;-0.33;-0.37;-0.37;-0.33;-0.37;-0.37;-0.7	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.80183	2.485	0.52501	D	0.999952	D;D;D	0.76494	0.979;0.998;0.999	D;D;D	0.85130	0.923;0.997;0.997	D	0.86497	0.1801	10	0.72032	D	0.01	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	468;540;558	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	355;532;515;515;515;215;540;468	ENSP00000403415:A355T;ENSP00000282272:A532T;ENSP00000331516:A515T;ENSP00000402420:A515T;ENSP00000338794:A515T;ENSP00000416319:A215T;ENSP00000387141:A540T;ENSP00000437825:A468T	ENSP00000282272:A532T	A	-	1	0	ANKRD44	197651704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.685000	0.54678	2.885000	0.99019	0.655000	0.94253	GCC		0.408	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		4	138	0	0	0	1	0	4	138					T	197943459	C	T	197943459	3	4	77	1	0	0	0	0	1	0	0	0	672	710	25	2	1260	2	ANKRD44	2	197943459	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	6878705	197943459	45255914	22	10039											
SATB2	23314	broad.mit.edu	37	chr2	200213649	200213649	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acggcaatctgttggtttatCagatgggccatggctatttg	12	7	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000417098.1	-	7	1764	c.948G>T	c.(946-948)ctG>ctT	p.L316L	SATB2_ENST00000443023.1_Silent_p.L257L|SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000260926.5_Silent_p.L316L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(769-771)ctG>ctT		SATB homeobox 2							161	163	162					2																	200213649		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213649C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.948G>T	2.37:g.200213649C>A						SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000417098.1_Silent_p.L316L|SATB2_ENST00000457245.1_Silent_p.L316L	p.L257L			Q9UPW6	SATB2_HUMAN			6	2236	-			316					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.771G>T	CCDS2327.1																																																																																				0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		14	379	1	0	3.27435e-08	1	3.41411e-08	14	379					A	200213649	C	A	200213649	2	1	77	1	0	0	0	0	0	0	0	1	13904	813	29	3		3	SATB2	2	200213649	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	2270190	200213649	42985724	23	10040											
SGOL2	151246	broad.mit.edu	37	chr2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaactgctagtgaagtcaGcaaaattgtcacagtctcaa	7	8	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	373					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTGAAGTCAGCAAAATTGTC	0.338																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1117-1119)aGc>aAc		shugoshin-like 2 (S. pombe)							36	34	35					2																	201436187		1865	4088	5953	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436187G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1118G>A	2.37:g.201436187G>A	ENSP00000350447:p.Ser373Asn						p.S373N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1216	+			373					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1118G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256435	0.39896	.	.	ENSG00000163535	ENST00000357799	T	0.17854	2.25	5.15	4.27	0.50696	.	0.291860	0.35495	N	0.003171	T	0.34774	0.0909	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67382	0.951;0.951;0.951	T	0.08006	-1.0743	10	0.62326	D	0.03	-1.2818	12.1889	0.54257	0.0788:0.0:0.9212:0.0	.	373;373;373	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	373	ENSP00000350447:S373N	ENSP00000350447:S373N	S	+	2	0	SGOL2	201144432	0.995000	0.38212	0.175000	0.22980	0.321000	0.28281	2.428000	0.44749	1.538000	0.49270	0.585000	0.79938	AGC		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	240	0	0	0	1	0	4	240					A	201436187	G	A	201436187	3	1	77	1	0	0	0	0	1	0	0	0	14267	971	34	2	1140	2	SGOL2	2	201436187	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1222538	201436187	41763186	24	10041											
FZD7	8324	broad.mit.edu	37	chr2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacctggtggacatgCggcgcttcagctacccagag	11	14	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	280					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(838-840)Cgg>Tgg		frizzled family receptor 7							116	117	117					2																	202900208		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900208C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.838C>T	2.37:g.202900208C>T	ENSP00000286201:p.Arg280Trp		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R280W	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	899	+			280					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.838C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097608	0.56075	.	.	ENSG00000155760	ENST00000286201	D	0.82893	-1.66	5.13	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.71036	2.16	0.58432	D	0.999994	D	0.76494	0.999	P	0.61658	0.892	D	0.89101	0.3489	10	0.72032	D	0.01	.	14.0995	0.65046	0.2941:0.7059:0.0:0.0	.	280	O75084	FZD7_HUMAN	W	280	ENSP00000286201:R280W	ENSP00000286201:R280W	R	+	1	2	FZD7	202608453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.396000	0.34531	0.677000	0.31305	0.563000	0.77884	CGG		0.662	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		6	929	0	0	0	1	0	6	929					T	202900208	C	T	202900208	3	4	77	1	0	0	0	0	1	0	0	0	6162	759	27	1	840	1	FZD7	2	202900208	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	1464021	202900208	40299165	25	10042											
SPAG16	79582	broad.mit.edu	37	chr2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttttggaaaatgagaAcaaaaatttaaagaaagatt	7	2	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000331683.5	+	5	586	c.491A>C	c.(490-492)aAc>aCc	p.N164T	SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000413312.1_Missense_Mutation_p.N133T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				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)		GAAAATGAGAACAAAAATTTA	0.313																																						ENST00000413312.1																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(397-399)aAc>aCc		sperm associated antigen 16							76	78	77					2																	214182035		2202	4297	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214182035A>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.491A>C	2.37:g.214182035A>C	ENSP00000332592:p.Asn164Thr					SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000331683.5_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T	p.N133T			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)	4	644	+		Renal(323;0.00461)	164					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.398A>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448286	0.63178	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.53;0.47	5.65	4.48	0.54585	.	0.190601	0.48767	D	0.000179	T	0.64338	0.2589	M	0.62723	1.935	0.33798	D	0.626297	B;D;P;D;D	0.71674	0.421;0.989;0.668;0.993;0.998	B;P;B;P;D	0.65684	0.202;0.883;0.306;0.823;0.937	T	0.72491	-0.4277	10	0.42905	T	0.14	.	9.0056	0.36109	0.8356:0.0:0.0:0.1644	.	70;133;104;164;164	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	T	164;164;133;164;164;70	ENSP00000332592:N164T;ENSP00000363428:N70T	ENSP00000272898:N164T	N	+	2	0	SPAG16	213890280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.685000	0.54678	0.941000	0.37499	0.528000	0.53228	AAC		0.313	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		77	146	0	0	0	1	0	77	146					C	214182035	A	C	214182035	3	2	77	1	0	0	0	0	1	0	0	0	15030	43	2	4	509	4	SPAG16	2	214182035	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	11281827	214182035	29017338	26	10043											
TRPM8	79054	broad.mit.edu	37	chr2	234875381	234875381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacagaccagcatttcatCgcccagcctggggtccaggt	11	15	1	1	rs201839664		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2005-2007)atC>atT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						75	66	69					2																	234875381		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234875381C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2007C>T	2.37:g.234875381C>T						TRPM8_ENST00000433712.2_Silent_p.I357I	p.I669I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	15	2047	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	669					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2007C>T	CCDS33407.1																																																																																				0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		40	63	0	0	0	1	0	40	63					T	234875381	C	T	234875381	2	4	77	1	0	0	0	0	0	0	0	1	16645	874	31	1		1	TRPM8	2	234875381	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	20693346	234875381	8323992	27	10044											
RPSA	3921	broad.mit.edu	37	chr3	39453425	39453425	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgctgctgagaaggcagtGaccaaggaggaatttcaggg	16	7	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V|SNORA62_ENST00000365493.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(664-666)gtG>gtA		ribosomal protein SA							58	62	60					3																	39453425		2203	4299	6502	SO:0001819	synonymous_variant	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39453425G>A	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"laminin receptor 1 (67kD, ribosomal protein SA)"	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.666G>A	3.37:g.39453425G>A						RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V	p.V222V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	6	775	+			222			Laminin-binding.			Silent	SNP	ENST00000301821.6	37	c.666G>A	CCDS2686.1																																																																																				0.488	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		16	172	0	0	0	1	0	16	172					A	39453425	G	A	39453425	2	1	77	1	0	0	0	0	0	0	0	1	13713	1277	45	2		2	RPSA	3	39453425	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		39453425	158569005	28	10045											
PBRM1	55193	broad.mit.edu	37	chr3	52651382	52651382	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcattgcggatgttatgctCaattattttcaagtccattg	8	7	3	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651382C>A	ENST00000296302.7	-	14	1715	c.1714G>T	c.(1714-1716)Gag>Tag	p.E572*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E540*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTC	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		3	Insertion - Frameshift(3)	p.E572fs*16(2)|p.E540fs*16(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1618-1620)Gag>Tag		polybromo 1							119	115	117					3																	52651382		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651382C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1714G>T	3.37:g.52651382C>A	ENSP00000296302:p.Glu572*					PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E572*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*	p.E540*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1620	-			572		R -> S (found in a case of clear cell renal carcinoma; somatic mutation).	Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1618G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.497543	0.98322	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.8047	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	540;572;572;572;572;572;587;587;572;531	.	ENSP00000296302:E572X	E	-	1	0	PBRM1	52626422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	GAG		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	213	1	0	0.000602214	1	0.000616639	5	213					A	52651382	C	A	52651382	4	1	77	1	0	0	0	0	0	1	0	0	11533	835	29	3	3254	3	PBRM1	3	52651382	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	13197957	52651382	145371048	29	10046											
PBRM1	55193	broad.mit.edu	37	chr3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaataggtcacaaagtcttCtgcctgaacctggctctcga	8	11	4	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000296302.7	-	14	1620	c.1619G>C	c.(1618-1620)aGa>aCa	p.R540T	PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T			Q86U86	PB1_HUMAN	polybromo 1	540	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.		R -> S (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAAGTCTTCTGCCTGAACC	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1522-1524)aGa>aCa		polybromo 1							98	98	98					3																	52651477		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651477C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1619G>C	3.37:g.52651477C>G	ENSP00000296302:p.Arg540Thr					PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000296302.7_Missense_Mutation_p.R540T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T	p.R508T			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1525	-			540					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1523G>C		.	.	.	.	.	.	.	.	.	.	C	29.0	4.968582	0.92855	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.997;0.994;0.999;1.0;0.996;0.996	T	0.73626	-0.3923	10	0.87932	D	0	-3.581	20.139	0.98050	0.0:1.0:0.0:0.0	.	540;540;540;540;555;555;540;508;540	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	508;540;540;540;540;540;555;555;540;499	ENSP00000349213:R508T;ENSP00000378307:R540T;ENSP00000296302:R540T;ENSP00000338302:R540T;ENSP00000386593:R540T;ENSP00000386529:R540T;ENSP00000386643:R555T;ENSP00000386601:R555T;ENSP00000387775:R540T;ENSP00000397662:R499T	ENSP00000296302:R540T	R	-	2	0	PBRM1	52626517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	AGA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		7	221	0	0	0	1	0	7	221					G	52651477	C	G	52651477	3	3	77	1	0	0	0	0	1	0	0	0	11533	913	32	5	3349	5	PBRM1	3	52651477	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	95	52651477	145370953	30	10047											
BOC	91653	broad.mit.edu	37	chr3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcttgggccttgtgCcagttgaagaggtggacagt	15	8	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167	180	176					3																	113005548		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser					BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S	p.P1062S			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3888	+			1062					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3184C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		6	648	0	0	0	1	0	6	648					T	113005548	C	T	113005548	3	4	77	1	0	0	0	0	1	0	0	0	1483	739	26	2	3254	2	BOC	3	113005548	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	60354071	113005548	85016882	31	10048											
TBC1D14	57533	broad.mit.edu	37	chr4	7011659	7011659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcttatacttgttaccGgccagatgtgggttatgtaa	13	7	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7011659G>A	ENST00000409757.4	+	10	1626	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	501	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACTTGTTACCGGCCAGATGTG	0.383																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1501-1503)cGg>cAg		TBC1 domain family, member 14							314	287	296					4																	7011659		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7011659G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1502G>A	4.37:g.7011659G>A	ENSP00000386921:p.Arg501Gln					TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q	p.R501Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			10	1626	+			501			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1502G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.575886	0.96553	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	5.82	5.82	0.92795	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.87180	2.865	0.80722	D	1	D;D;D	0.71674	0.998;0.977;0.978	P;P;P	0.60541	0.876;0.746;0.727	T	0.00814	-1.1555	10	0.66056	D	0.02	-14.4235	19.0811	0.93182	0.0:0.0:1.0:0.0	.	148;221;501	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	Q	501;501;273;221;154;148	ENSP00000404041:R501Q;ENSP00000386921:R501Q;ENSP00000386343:R273Q;ENSP00000388886:R221Q;ENSP00000389082:R154Q;ENSP00000405875:R148Q	ENSP00000386921:R501Q	R	+	2	0	TBC1D14	7062560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.361000	0.97122	2.756000	0.94617	0.561000	0.74099	CGG		0.383	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		6	982	0	0	0	1	0	6	982					A	7011659	G	A	7011659	3	1	77	1	0	0	0	0	1	0	0	0	15655	1116	39	1	1543	1	TBC1D14	4	7011659	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		7011659	184142617	32	10049											
SORCS2	57537	broad.mit.edu	37	chr4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctctctcctgtagattttCggtacgtcacctgcgcaatc	8	14	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597																																						ENST00000507866.2																			2	Substitution - Missense(2)	p.R170W(2)	large_intestine(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(958-960)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 2							43	44	44					4																	7666085		2075	4192	6267	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666085C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	4.37:g.7666085C>T	ENSP00000422185:p.Arg320Trp					SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	p.R320W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			7	1067	+			320					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.958C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG		0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		28	78	0	0	0	1	0	28	78					T	7666085	C	T	7666085	3	4	77	1	0	0	0	0	1	0	0	0	14981	875	31	1	984	1	SORCS2	4	7666085	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	654426	7666085	183488191	33	10050											
TXK	7294	broad.mit.edu	37	chr4	48069714	48069714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcaaatgtagggcggccTtcaggtttctggaaaaggga	15	7	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1522-1524)gaA>gaG		TXK tyrosine kinase							87	91	90					4																	48069714		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48069714T>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1524A>G	4.37:g.48069714T>C						TXK_ENST00000507351.1_Silent_p.E163E	p.E508E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			15	1609	-			508			Protein kinase.		Q14220	Silent	SNP	ENST00000264316.4	37	c.1524A>G	CCDS3480.1																																																																																				0.507	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		66	178	0	0	0	1	0	66	178					C	48069714	T	C	48069714	2	2	77	1	0	0	0	0	0	0	0	1	16840	1606	56	4		4	TXK	4	48069714	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	40403629	48069714	143084562	34	10051											
SEC31A	22872	broad.mit.edu	37	chr4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtctgttccctaagttTatcatacagaaactccaaac	4	11	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000395310.2	-	26	3648	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3505-3507)Aaa>Gaa		SEC31 homolog A (S. cerevisiae)							200	210	207					4																	83742207		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742207T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3466A>G	4.37:g.83742207T>C	ENSP00000378721:p.Lys1156Glu					SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000395310.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E	p.K1169E			O94979	SC31A_HUMAN			27	3668	-		Hepatocellular(203;0.114)	1156					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3505A>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839843|4.839843	0.91117|0.91117	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40756	.|1.17;1.02;2.26;2.22;1.07;2.15;2.26;1.17;1.07;1.02;1.02;2.22;2.26;3.05;2.14	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.85462|0.85462	2.755|2.755	0.36891|0.36891	D|D	0.889912|0.889912	.|D;D;D;D;D;D;D;D;D	.|0.76494	.|0.998;0.997;0.998;0.999;0.998;0.999;0.998;0.984;0.998	.|D;D;D;D;D;D;D;P;D	.|0.85130	.|0.993;0.98;0.994;0.997;0.994;0.996;0.993;0.839;0.997	T|T	0.76567|0.76567	-0.2912|-0.2912	5|10	.|0.48119	.|T	.|0.1	-14.366|-14.366	15.8221|15.8221	0.78662|0.78662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1136;1102;1003;1117;1042;1141;1156;905;1169	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	M|E	318|1117;1003;1156;1136;1042;1169;1156;1117;1042;1187;1003;1141;1156;905;1102	.|ENSP00000337602:K1117E;ENSP00000426886:K1003E;ENSP00000378721:K1156E;ENSP00000408027:K1136E;ENSP00000426569:K1042E;ENSP00000407944:K1169E;ENSP00000400926:K1156E;ENSP00000325087:K1117E;ENSP00000309070:K1042E;ENSP00000421633:K1187E;ENSP00000421464:K1003E;ENSP00000424635:K1141E;ENSP00000347329:K1156E;ENSP00000264405:K905E;ENSP00000424451:K1102E	.|ENSP00000264405:K905E	I|K	-|-	3|1	3|0	SEC31A|SEC31A	83961231|83961231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.698000|7.698000	0.84413|0.84413	2.139000|2.139000	0.66308|0.66308	0.533000|0.533000	0.62120|0.62120	ATA|AAA		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		19	709	0	0	0	1	0	19	709					C	83742207	T	C	83742207	3	2	77	1	0	0	0	0	1	0	0	0	14048	1763	61	4	204	4	SEC31A	4	83742207	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	35672493	83742207	107412069	35	10052											
SLC10A6	345274	broad.mit.edu	37	chr4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctagtccctgctattcacatGaagtgatgtggccaactggc	10	11	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1123-1125)tCa>tTa		solute carrier family 10 (sodium/bile acid cotransporter), member 6							88	75	79					4																	87744851		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87744851G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1124C>T	4.37:g.87744851G>A	ENSP00000273905:p.Ser375Leu						p.S375L	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	6	1271	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	375					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.1124C>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256182	0.39896	.	.	ENSG00000145283	ENST00000273905	T	0.09445	2.98	4.83	3.99	0.46301	.	.	.	.	.	T	0.10766	0.0263	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16988	-1.0384	9	0.49607	T	0.09	6.3961	8.9158	0.35581	0.0998:0.0:0.9002:0.0	.	375	Q3KNW5	SOAT_HUMAN	L	375	ENSP00000273905:S375L	ENSP00000273905:S375L	S	-	2	0	SLC10A6	87963875	0.814000	0.29104	0.014000	0.15608	0.095000	0.18619	2.377000	0.44300	1.278000	0.44430	-0.236000	0.12185	TCA		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		43	134	0	0	0	1	0	43	134					A	87744851	G	A	87744851	3	1	77	1	0	0	0	0	1	0	0	0	14428	1294	45	2	13	2	SLC10A6	4	87744851	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	4002644	87744851	103409425	36	10053											
PKD2	5311	broad.mit.edu	37	chr4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaaactttgacgaacttcGacaagatctcaaagggtgag	10	7	1	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000508588.1	+	6	874	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2224-2226)cGa>cAa		polycystic kidney disease 2 (autosomal dominant)							84	80	81					4																	88986632		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986632G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.479G>A	4.37:g.88986632G>A	ENSP00000427131:p.Arg160Gln					PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q	p.R742Q	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2291	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	742			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2225G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.381910	0.82792	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.56103	0.48;0.48;0.48	5.89	5.03	0.67393	EF-hand-like domain (1);	0.062020	0.64402	D	0.000003	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70146	-0.4952	10	0.40728	T	0.16	-9.2108	16.2716	0.82624	0.0:0.0:0.8663:0.1336	.	742	Q13563	PKD2_HUMAN	Q	742;160;160	ENSP00000237596:R742Q;ENSP00000427131:R160Q;ENSP00000425289:R160Q	ENSP00000237596:R742Q	R	+	2	0	PKD2	89205656	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.580000	0.82523	1.454000	0.47793	0.655000	0.94253	CGA		0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		80	203	0	0	0	1	0	80	203					A	88986632	G	A	88986632	3	1	77	1	0	0	0	0	1	0	0	0	12008	1058	37	1	2267	1	PKD2	4	88986632	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1241781	88986632	102167644	37	10054											
PDLIM5	10611	broad.mit.edu	37	chr4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagctaaaagatggcgGcaaggcagcccaggcaaatg	12	9	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(109-111)gGc>gAc		PDZ and LIM domain 5							84	80	81					4																	95444888		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95444888G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.110G>A	4.37:g.95444888G>A	ENSP00000321746:p.Gly37Asp					PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D	p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	3	246	+		Hepatocellular(203;0.114)	37			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.110G>A	CCDS3641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.962750|4.962750	0.92791|0.92791	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;1.8;1.8;0.63;0.63;0.63;0.63	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79902|0.79902	0.4526|0.4526	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.991	.|D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.998;0.991;0.999;0.982	D|D	0.84745|0.84745	0.0753|0.0753	5|10	.|0.72032	.|D	.|0.01	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;37;37;37;37;37	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	T|D	5|37	.|ENSP00000398469:G37D;ENSP00000369527:G37D;ENSP00000322021:G37D;ENSP00000401579:G37D;ENSP00000439795:G37D;ENSP00000321746:G37D;ENSP00000424297:G37D;ENSP00000426804:G37D;ENSP00000424360:G37D	.|ENSP00000321746:G37D	A|G	+|+	1|2	0|0	PDLIM5|PDLIM5	95663911|95663911	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			5	165	0	0	0	1	0	5	165					A	95444888	G	A	95444888	3	1	77	1	0	0	0	0	1	0	0	0	11725	1203	42	2	116	2	PDLIM5	4	95444888	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	6458256	95444888	95709388	38	10055											
METAP1	23173	broad.mit.edu	37	chr4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcacggcctcacttcatgtCtcaattttaatttctcccaa	4	13	4	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	384					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)			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)		CACTTCATGTCTCAATTTTAA	0.458																																						ENST00000296411.6																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1150-1152)tCt>tTt		methionyl aminopeptidase 1							108	111	110					4																	99982458		1913	4128	6041	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.chr4:99982458C>T	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.1151C>T	4.37:g.99982458C>T	ENSP00000296411:p.Ser384Phe					METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	p.S384F	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1285	+			384					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1151C>T	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208029	0.39003	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.96	4.96	0.65561	.	0.167404	0.53938	D	0.000059	T	0.55609	0.1931	L	0.46157	1.445	0.58432	D	0.999998	B	0.28378	0.209	B	0.22880	0.042	T	0.52335	-0.8589	8	.	.	.	-12.7309	18.3944	0.90493	0.0:1.0:0.0:0.0	.	384	P53582	AMPM1_HUMAN	F	384;334;168;114	.	.	S	+	2	0	METAP1	100201481	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.563000	0.53784	2.561000	0.86390	0.655000	0.94253	TCT		0.458	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		42	225	0	0	0	1	0	42	225					T	99982458	C	T	99982458	3	4	77	1	0	0	0	0	1	0	0	0	9527	913	32	2	1193	2	METAP1	4	99982458	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4537570	99982458	91171818	39	10056											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		10	322						10	322	---	---	---	---	-	106863684	CCA	-	106863682	7	5	77	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-HZ-A8P1-01A-11D-A377-08	6881224	106863682	84290594	40	10057											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	104	0	0	0	1	0	5	104					T	140811108	C	T	140811108	2	4	77	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	33947426	140811108	50343168	41	10058											
NPY1R	4886	broad.mit.edu	37	chr4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacacagtgttaaagatgGtaagagggagccagcagact	12	7	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	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)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(838-840)aCc>aTc		neuropeptide Y receptor Y1							84	82	83					4																	164246771		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246771G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.839C>T	4.37:g.164246771G>A	ENSP00000354652:p.Thr280Ile					NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	p.T280I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1370	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	280					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.839C>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729970	0.30684	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.544480	0.19310	N	0.117412	T	0.50309	0.1608	L	0.47016	1.485	0.40849	D	0.983732	P	0.36027	0.533	B	0.40038	0.317	T	0.49495	-0.8934	10	0.39692	T	0.17	.	13.1127	0.59283	0.073:0.0:0.927:0.0	.	280	P25929	NPY1R_HUMAN	I	280;37;37	ENSP00000354652:T280I;ENSP00000427284:T37I;ENSP00000422963:T37I	ENSP00000354652:T280I	T	-	2	0	NPY1R	164466221	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	2.769000	0.47654	2.702000	0.92279	0.563000	0.77884	ACC		0.428	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			82	141	0	0	0	1	0	82	141					A	164246771	G	A	164246771	3	1	77	1	0	0	0	0	1	0	0	0	10650	1261	44	2	319	2	NPY1R	4	164246771	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	23435663	164246771	26907505	42	10059											
WDR17	116966	broad.mit.edu	37	chr4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaggattaatgtggaaTactgagattccatatctgct	11	5	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000280190.4	+	14	2010	c.1854T>A	c.(1852-1854)aaT>aaA	p.N618K	WDR17_ENST00000393643.2_Missense_Mutation_p.N594K|WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAATGTGGAATACTGAGATTC	0.413																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1780-1782)aaT>aaA		WD repeat domain 17							166	161	163					4																	177069371		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069371T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1854T>A	4.37:g.177069371T>A	ENSP00000280190:p.Asn618Lys					WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000280190.4_Missense_Mutation_p.N618K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K	p.N594K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	2034	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	618					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1782T>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936431	0.73442	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.14;3.49;0.14	5.77	-5.17	0.02849	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	0.71426	0.3338	M	0.81682	2.555	0.49299	D	0.999775	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75926	-0.3145	10	0.72032	D	0.01	-32.5565	14.3103	0.66413	0.0:0.474:0.0:0.526	.	594;618	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	594;594;618;601	ENSP00000422763:N594K;ENSP00000377258:N594K;ENSP00000280190:N618K	ENSP00000280190:N618K	N	+	3	2	WDR17	177306365	0.783000	0.28701	0.914000	0.36105	0.839000	0.47603	-0.154000	0.10130	-0.688000	0.05155	-0.264000	0.10439	AAT		0.413	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			188	341	0	0	0	1	0	188	341					A	177069371	T	A	177069371	3	1	77	1	0	0	0	0	1	0	0	0	17331	1403	49	5	1904	5	WDR17	4	177069371	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	12822600	177069371	14084905	43	10060											
TLR3	7098	broad.mit.edu	37	chr4	187005297	187005297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatttttgttataacacaCcatctattaaaagacccatt	2	8	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.3	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	819	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2455-2457)caC>caT		toll-like receptor 3							41	46	44					4																	187005297		2193	4295	6488	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005297C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2457C>T	4.37:g.187005297C>T						TLR3_ENST00000504367.1_Silent_p.H542H	p.H819H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2561	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	819			TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.2457C>T	CCDS3846.1																																																																																				0.299	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			77	147	0	0	0	1	0	77	147					T	187005297	C	T	187005297	2	4	77	1	0	0	0	0	0	0	0	1	16004	506	18	2		2	TLR3	4	187005297	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	9935926	187005297	4148979	44	10061											
NAIP	4671	broad.mit.edu	37	chr5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgctcctcttcttctAgttcctttgccaactgaact	4	15	4	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(112-114)cTa>cCa		NLR family, apoptosis inhibitory protein							148	135	139					5																	70308630		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308630A>G	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.113T>C	5.37:g.70308630A>G	ENSP00000428657:p.Leu38Pro					NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P	p.L38P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	403	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	38					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.113T>C	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	a	7.483	0.648990	0.14516	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.75154	-0.91;-0.91;-0.91	3.25	0.611	0.17586	.	2.100700	0.03038	U	0.152947	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.015;0.022	B;B	0.14023	0.003;0.01	T	0.47824	-0.9087	10	0.56958	D	0.05	.	4.4374	0.11557	0.6054:0.1923:0.0:0.2023	.	38;38	E7EQW0;Q13075	.;BIRC1_HUMAN	P	38	ENSP00000428657:L38P;ENSP00000443944:L38P;ENSP00000429545:L38P	ENSP00000443944:L38P	L	-	2	0	NAIP	70344386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.847000	0.27696	0.117000	0.18138	0.352000	0.21897	CTA		0.463	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		173	345	0	0	0	1	0	173	345					G	70308630	A	G	70308630	3	3	77	1	0	0	0	0	1	0	0	0	10188	420	15	4	4154	4	NAIP	5	70308630	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08		70308630	110606630	45	10062											
SLC36A2	153201	broad.mit.edu	37	chr5	150715058	150715058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggtcagaatcacCgtctcattggaatagcagtt	13	7	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TCAGAATCACCGTCTCATTGG	0.522																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(574-576)acG>acA		solute carrier family 36 (proton/amino acid symporter), member 2							255	236	243					5																	150715058		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150715058C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.576G>A	5.37:g.150715058C>T						SLC36A2_ENST00000521967.1_Silent_p.T192T	p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	705	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	192					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.576G>A	CCDS4315.1																																																																																				0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			83	199	0	0	0	1	0	83	199					T	150715058	C	T	150715058	2	4	77	1	0	0	0	0	0	0	0	1	14644	639	23	1		1	SLC36A2	5	150715058	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	80406428	150715058	30200202	46	10063											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		9	191						9	191	---	---	---	---	-	30653496	TGC	-	30653494	7	5	77	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-HZ-A8P1-01A-11D-A377-08		30653494	140461573	47	10064											
EYS	346007	broad.mit.edu	37	chr6	66063349	66063349	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattacataaatttgttAcctgcaaatcccaattgcca	3	9	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000370621.3	-	9	1986		c.e9+1		EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000370616.2_Splice_Site			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.e9+1		eyes shut homolog (Drosophila)							65	63	64					6																	66063349		2203	4300	6503	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063349A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1459+1T>A	6.37:g.66063349A>T						EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000370616.2_Splice_Site		NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1997	-								A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Splice_Site	SNP	ENST00000370621.3	37			.	.	.	.	.	.	.	.	.	.	A	8.880	0.951312	0.18431	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2851	0.43562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EYS	66120070	0.986000	0.35501	0.153000	0.22517	0.081000	0.17604	2.533000	0.45667	1.441000	0.47550	0.482000	0.46254	.		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Intron	93	151	0	0	0	1	0	93	151					T	66063349	A	T	66063349	5	4	77	1	0	0	0	0	0	0	1	0	5350	405	14	5	8075	5	EYS	6	66063349	Splice_Site	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	35409855	66063349	105051718	48	10065											
BAI3	577	broad.mit.edu	37	chr6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtattgaacaaggtcagCccaagccagtttggttgcca	11	9	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					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)			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)				ACAAGGTCAGCCCAAGCCAGT	0.368																																						ENST00000370598.1																			0				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						c.(484-486)agC>agA		brain-specific angiogenesis inhibitor 3							74	75	75					6																	69349053		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.chr6:69349053C>A	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.486C>A	6.37:g.69349053C>A	ENSP00000359630:p.Ser162Arg						p.S162R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1307	+		all_lung(197;0.212)	162					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.486C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555672	0.45487	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.23	5.23	0.72850	.	0.059956	0.64402	D	0.000005	T	0.11750	0.0286	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41860	0.368	T	0.03534	-1.1027	10	0.87932	D	0	.	19.1611	0.93533	0.0:1.0:0.0:0.0	.	162	O60242	BAI3_HUMAN	R	162	ENSP00000359630:S162R	ENSP00000359630:S162R	S	+	3	2	BAI3	69405774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.610000	0.88304	0.655000	0.94253	AGC		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	387	1	0	0.00116845	1	0.00118931	5	387					A	69349053	C	A	69349053	3	1	77	1	0	0	0	0	1	0	0	0	1301	738	26	3	488	3	BAI3	6	69349053	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	3285704	69349053	101766014	49	10066											
KCNQ5	56479	broad.mit.edu	37	chr6	73830223	73830223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgtttggcgtagttaCgcagctgatgagaaatctgt	13	6	1	2	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000370398.1	+	8	1252	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000342056.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GGCGTAGTTACGCAGCTGATG	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1141-1143)taC>taT		potassium voltage-gated channel, KQT-like subfamily, member 5		T	,,,,	0,4406		0,0,2203	91	73	79		1143,1143,1143,1143,1143	-2.7	1	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	381/924,381/943,381/952,381/823,381/933	73830223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73830223C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1143C>T	6.37:g.73830223C>T						KCNQ5_ENST00000370398.1_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y	p.Y381Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	8	1541	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	381					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.1143C>T	CCDS4976.1																																																																																				0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		14	183	0	0	0	1	0	14	183					T	73830223	C	T	73830223	2	4	77	1	0	0	0	0	0	0	0	1	8116	547	19	1		1	KCNQ5	6	73830223	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4481170	73830223	97284844	50	10067											
SDK1	221935	broad.mit.edu	37	chr7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-													tttcattcccacaggcctgtGgaggacctgagtgtgacctg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000404826.2	+	7	1105_1115	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.EDLS323fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	323	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V322V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.V322V(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(964-978)gtgtfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:3991368_3991378delGGAGGACCTGA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.966_976delGGAGGACCTGA	7.37:g.3991368_3991378delGGAGGACCTGA	ENSP00000385899:p.Glu323fs					SDK1_ENST00000389531.3_Frame_Shift_Del_p.VEDLS322fs	p.VEDLS322fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1105_1115	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	322			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.966_976delGGAGGACCTGA	CCDS34590.1																																																																																				0.583	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		50	168						50	168	---	---	---	---	-	3991378	GGAGGACCTGA	-	3991368	7	5	77	1	0	1	0	1	0	0	0	0	14018	1335	47	0	992	0	SDK1	7	3991368	Frame_Shift_Del	DEL	GGAGGACCTGA	TCGA-HZ-A8P1-01A-11D-A377-08		3991368	155147295	51	10068											
HDAC9	9734	broad.mit.edu	37	chr7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtggaccctgttgtccGtgagaagcaattgcagcagg	15	9	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(124-126)cGt>cAt		histone deacetylase 9	Valproic Acid(DB00313)						94	94	94					7																	18625006		1970	4179	6149	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18625006G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.125G>A	7.37:g.18625006G>A	ENSP00000410337:p.Arg42His					HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H	p.R42H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			3	275	+	all_lung(11;0.187)		42					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.125G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			41	317	0	0	0	1	0	41	317					A	18625006	G	A	18625006	3	1	77	1	0	0	0	0	1	0	0	0	7044	1145	40	1	131	1	HDAC9	7	18625006	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	14633638	18625006	140513657	52	10069											
OSBPL3	26031	broad.mit.edu	37	chr7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-													atcaatgcagccatgcagctTctctctctctatctgcagag							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.5	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	345						7	345	---	---	---	---	-	24910453	TC	-	24910452	7	5	77	1	0	1	0	1	0	0	0	0	11321	1792	62	0	2459	0	OSBPL3	7	24910452	Frame_Shift_Del	DEL	TC	TCGA-HZ-A8P1-01A-11D-A377-08	6285446	24910452	134228211	53	10070											
POMZP3	22932	broad.mit.edu	37	chr7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacagtgttgagctgattatCtgctctggtctataatgaaa	10	6	3	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418																																						ENST00000310842.4																			0				kidney(3)|lung(2)	5						c.(73-75)caG>caC		POM121 and ZP3 fusion							201	186	191					7																	76254991		2203	4300	6503	SO:0001583	missense	22932							g.chr7:76254991C>G	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.75G>C	7.37:g.76254991C>G	ENSP00000309233:p.Gln25His					UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	p.Q25H	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN			3	759	-		Myeloproliferative disorder(862;0.204)	25					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.75G>C	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590335	0.28357	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.32515	1.88;1.45	0.694	0.694	0.18062	.	0.120055	0.56097	U	0.000036	T	0.22360	0.0539	L	0.52266	1.64	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.16748	-1.0392	10	0.66056	D	0.02	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	25	Q6PJE2	POZP3_HUMAN	H	25	ENSP00000309233:Q25H;ENSP00000405319:Q25H	ENSP00000275569:Q25H	Q	-	3	2	POMZP3	76092927	0.643000	0.27269	0.070000	0.20053	0.785000	0.44390	0.650000	0.24858	0.690000	0.31570	0.472000	0.43445	CAG		0.418	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		12	588	0	0	0	1	0	12	588					G	76254991	C	G	76254991	3	3	77	1	0	0	0	0	1	0	0	0	12289	912	32	5	511	5	POMZP3	7	76254991	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	51344539	76254991	82883672	54	10071											
ABCB4	5244	broad.mit.edu	37	chr7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgatgacatctgcatttCggaccgtagacagtcggtgt	12	10	1	2	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATCTGCATTTCGGACCGTAGA	0.488																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1783-1785)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 4		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	201	174	183		1784,1784,1784	5.5	1	7	dbSNP_134	183	0,8600		0,0,4300	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	595/1280,595/1287,595/1233	87060829	2,13004	2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060829C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1784G>A	7.37:g.87060829C>T	ENSP00000265723:p.Arg595Gln					ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q	p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			15	1895	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		595			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1784G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565430	0.86439	4.54E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41978	0.69;0.767;0.656	B;P;B	0.46796	0.083;0.527;0.327	T	0.73962	-0.3817	10	0.56958	D	0.05	-8.993	19.365	0.94458	0.0:1.0:0.0:0.0	.	595;595;595	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	595	ENSP00000352135:R595Q;ENSP00000351172:R595Q;ENSP00000265723:R595Q;ENSP00000392983:R595Q;ENSP00000437465:R595Q	ENSP00000265723:R595Q	R	-	2	0	ABCB4	86898765	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.280000	0.51677	2.580000	0.87095	0.591000	0.81541	CGA		0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		5	420	0	0	0	1	0	5	420					T	87060829	C	T	87060829	3	4	77	1	0	0	0	0	1	0	0	0	43	884	31	1	2132	1	ABCB4	7	87060829	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	10805838	87060829	72077834	55	10072											
ZNF800	168850	broad.mit.edu	37	chr7	127015056	127015057	+	Frame_Shift_Ins	INS	-	-	T													tctaggagatcatttatggcINSttggctttgtttatcattta							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127015056_127015057insT	ENST00000393313.1	-	5	924_925	c.333_334insA	c.(331-336)caagccfs	p.A112fs	ZNF800_ENST00000393312.1_Frame_Shift_Ins_p.A112fs|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Frame_Shift_Ins_p.A112fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCATTTATGGCTTGGCTTTGTT	0.327											OREG0003806	type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(331-336)caccatfs		zinc finger protein 800																																				SO:0001589	frameshift_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127015056_127015057insT	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.334dupA	7.37:g.127015058_127015058dupT	ENSP00000376989:p.Ala112fs		OREG0003806	type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1554	ZNF800_ENST00000393312.1_Frame_Shift_Ins_p.HH111fs|ZNF800_ENST00000265827.3_Frame_Shift_Ins_p.HH111fs	p.HH111fs			Q2TB10	ZN800_HUMAN			5	924_925	-			111					Q9HBN0	Frame_Shift_Ins	INS	ENST00000393313.1	37	c.333_334insA	CCDS5795.1																																																																																				0.327	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		8	348						8	348	---	---	---	---	T	127015057	-	T	127015056	7	5	77	1	0	1	1	0	0	0	0	0	18222	797	28	0	1668	0	ZNF800	7	127015056	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	39954227	127015056	32123607	56	10073											
LRRC4	64101	broad.mit.edu	37	chr7	127668984	127668984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggatgtcttcgtccacCtggattatctcaacagtccg	10	12	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1708-1710)caG>caA		leucine rich repeat containing 4							87	69	75					7																	127668984		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127668984C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1710G>A	7.37:g.127668984C>T						SND1_ENST00000354725.3_Intron	p.Q570Q	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	1967	-			570					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.1710G>A	CCDS5799.1																																																																																				0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		37	49	0	0	0	1	0	37	49					T	127668984	C	T	127668984	2	4	77	1	0	0	0	0	0	0	0	1	9035	680	24	2		2	LRRC4	7	127668984	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	653928	127668984	31469679	57	10074											
MYOM2	9172	broad.mit.edu	37	chr8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctcagcgagcacttctCggtgaaggtggagcaggcca	14	12	2	1	rs367862562		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4174-4176)tCg>tTg		myomesin 2		C	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	118	100	106		4175	-3.6	0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	145	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	1392/1466	2092682	5,13001	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092682C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4175C>T	8.37:g.2092682C>T	ENSP00000262113:p.Ser1392Leu					MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	p.S1392L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4316	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1392			Ig-like C2-type 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4175C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012872	0.19277	9.08E-4	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.67865	-0.29;-0.29	5.24	-3.6	0.04570	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.978980	0.01974	N	0.044348	T	0.49406	0.1555	N	0.21240	0.645	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25606	-1.0127	10	0.27785	T	0.31	.	6.7144	0.23294	0.184:0.3622:0.0:0.4538	.	1392	P54296	MYOM2_HUMAN	L	1392;817	ENSP00000262113:S1392L;ENSP00000428396:S817L	ENSP00000262113:S1392L	S	+	2	0	MYOM2	2080089	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	-1.046000	0.03525	-0.582000	0.05929	0.655000	0.94253	TCG		0.527	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		102	101	0	0	0	1	0	102	101					T	2092682	C	T	2092682	3	4	77	1	0	0	0	0	1	0	0	0	10133	893	31	1	4317	1	MYOM2	8	2092682	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		2092682	144271340	58	10075											
ZMAT4	79698	broad.mit.edu	37	chr8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttgatagggagatgCgaccaccggagcagtgtcca	12	10	2	2	rs559636677		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(403-405)Gca>Aca		zinc finger, matrin-type 4							158	159	158					8																	40532397		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532397C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.403G>A	8.37:g.40532397C>T	ENSP00000297737:p.Ala135Thr					ZMAT4_ENST00000315769.7_Intron	p.A135T	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	549	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	135					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.403G>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909157	0.17833	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.41758	0.99;0.99	5.15	-4.1	0.03940	.	0.842881	0.10911	N	0.620537	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.21759	-1.0236	10	0.15952	T	0.53	-0.6256	2.6729	0.05073	0.1913:0.4688:0.0947:0.2452	.	135	Q9H898	ZMAT4_HUMAN	T	135	ENSP00000297737:A135T;ENSP00000428423:A135T	ENSP00000297737:A135T	A	-	1	0	ZMAT4	40651554	0.000000	0.05858	0.130000	0.21974	0.692000	0.40212	-2.263000	0.01174	-0.981000	0.03520	0.557000	0.71058	GCA		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		7	467	0	0	0	1	0	7	467					T	40532397	C	T	40532397	3	4	77	1	0	0	0	0	1	0	0	0	17747	768	27	1	298	1	ZMAT4	8	40532397	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	38439715	40532397	105831625	59	10076											
IKBKB	3551	broad.mit.edu	37	chr8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A													acgcagacatgtggggcctgGgaaatgaaagagcgccttgg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000523459.1_RNA|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTGGGGCCTGGGAAATGAAAG	0.537																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(43-45)tgG>tgA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						117	117	117					8																	42129663		2203	4300	6503	SO:0001587	stop_gained	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129663G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.45G>A	8.37:g.42129663G>A	ENSP00000430684:p.Trp15*					IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*	p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	231	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	15			Protein kinase.		B4DZ30|B4E0U4|O75327	Nonsense_Mutation	SNP	ENST00000520810.1	37	c.45G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	42	9.636366	0.99226	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000339151:W15X	W	+	3	0	IKBKB	42248820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	TGG		0.537	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			114	131	0	0	0	1	0	114	131					A	42129663	G	A	42129663	4	1	77	1	0	0	0	0	0	1	0	0	7641	1241	43	2	47	2	IKBKB	8	42129663	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1597266	42129663	104234359	60	10077	65	2									
IKBKB	3551	broad.mit.edu	37	chr8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A													cgcagacatgtggggcctggGaaatgaaagagcgccttggg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000523459.1_RNA|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGGGGCCTGGGAAATGAAAGA	0.542																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(46-48)Gaa>Aaa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						117	117	117					8																	42129664		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129664G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.46G>A	8.37:g.42129664G>A	ENSP00000430684:p.Glu16Lys					IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K	p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	232	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	16			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.46G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127519	0.56721	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T	0.65916	-0.18;-0.18	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.31476	0.935	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.20384	0.02;0.029	T	0.36720	-0.9736	10	0.06891	T	0.86	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	16;16	O14920;Q32ND9	IKKB_HUMAN;.	K	16	ENSP00000430684:E16K;ENSP00000430483:E16K	ENSP00000339151:E16K	E	+	1	0	IKBKB	42248821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	GAA		0.542	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			114	129	0	0	0	1	0	114	129					A	42129664	G	A	42129664	3	1	77	1	0	0	0	0	1	0	0	0	7641	1175	41	2	48	2	IKBKB	8	42129664	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1	42129664	104234358	61	10078	65	2									
TYRP1	7306	broad.mit.edu	37	chr9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatatctgcacggatgacttGatgggatccagaagcaactt	11	8	1	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(793-795)ttG>ttC		tyrosinase-related protein 1							122	116	118					9																	12698537		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12698537G>C	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.795G>C	9.37:g.12698537G>C	ENSP00000373570:p.Leu265Phe					TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	p.L265F	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	924	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	265					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.795G>C	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266534	0.40095	.	.	ENSG00000107165	ENST00000388918	D	0.98633	-5.04	6.07	4.23	0.50019	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.121883	0.56097	D	0.000034	D	0.95771	0.8624	L	0.28608	0.87	0.80722	D	1	B	0.25007	0.116	B	0.35278	0.199	D	0.91030	0.4863	10	0.30854	T	0.27	-6.3417	4.1206	0.10104	0.1303:0.2338:0.5154:0.1205	.	265	P17643	TYRP1_HUMAN	F	265	ENSP00000373570:L265F	ENSP00000373570:L265F	L	+	3	2	TYRP1	12688537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.652000	0.37313	0.889000	0.36185	0.655000	0.94253	TTG		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		127	151	0	0	0	1	0	127	151					C	12698537	G	C	12698537	3	2	77	1	0	0	0	0	1	0	0	0	16870	1281	45	5	805	5	TYRP1	9	12698537	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		12698537	128514894	62	10079											
SLC24A2	25769	broad.mit.edu	37	chr9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgtagaaagacacatctcGaaagagcggccaccatgtca	9	10	2	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(718-720)Cga>Tga		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							93	87	89					9																	19786147		2203	4300	6503	SO:0001587	stop_gained	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786147G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.718C>T	9.37:g.19786147G>A	ENSP00000344801:p.Arg240*					SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	779	-			240					B7ZLL8|Q9NTN5|Q9NZQ4	Nonsense_Mutation	SNP	ENST00000341998.2	37	c.718C>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	37	6.631099	0.97718	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.91	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9975	0.47585	0.0676:0.0:0.6657:0.2667	.	.	.	.	X	240	.	.	R	-	1	2	SLC24A2	19776147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.806000	0.34183	0.655000	0.94253	CGA		0.398	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		45	162	0	0	0	1	0	45	162					A	19786147	G	A	19786147	4	1	77	1	0	0	0	0	0	1	0	0	14516	1066	37	1	1307	1	SLC24A2	9	19786147	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	7087610	19786147	121427284	63	10080											
CREB3	7094	broad.mit.edu	37	chr9	35733435	35733435	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaggagaagagtctaTtggagaaggaggggcttatt	16	3	1	5			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:35733435T>C	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.L130L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGAGTCTATTGGAGAAGGA	0.468																																						ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(388-390)Ttg>Ctg		cAMP responsive element binding protein 3							103	94	97					9																	35733435		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35733435T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733435T>C	Exception_encountered					CREB3_ENST00000486056.1_3'UTR	p.L130L	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	4	826	+	all_epithelial(49;0.167)		154					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.388T>C	CCDS35009.1																																																																																				0.468	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		47	101	0	0	0	1	0	47	101					C	35733435	T	C	35733435	1	2	77	0	1	0	0	0	0	0	0	0	3864	1490	52	4		4	CREB3	9	35733435	5'Flank	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	15947288	35733435	105479996	64	10081											
FBXO10	26267	broad.mit.edu	37	chr9	37537233	37537233	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggaagaggcacttgcggatGaggcagccctgcacggagtt	16	10	0	2	rs199569952	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	431					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTGCGGATGAGGCAGCCCT	0.602																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1291-1293)ctC>ctG		F-box protein 10							45	47	46					9																	37537233		2029	4191	6220	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537233G>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1293C>G	9.37:g.37537233G>C						FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	p.L431L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	1341	-			431					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.1293C>G	CCDS47966.1																																																																																				0.602	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			4	166	0	0	0	1	0	4	166					C	37537233	G	C	37537233	2	2	77	1	0	0	0	0	0	0	0	1	5751	1277	45	5		5	FBXO10	9	37537233	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1803798	37537233	103676198	65	10082											
SMC2	10592	broad.mit.edu	37	chr9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attctcagcttaaaattaagGaattagaccacaacatcagc	5	9	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2734-2736)Gaa>Aaa		structural maintenance of chromosomes 2							145	139	141					9																	106889705		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889705G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2734G>A	9.37:g.106889705G>A	ENSP00000286398:p.Glu912Lys					SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000374787.3_Missense_Mutation_p.E912K	p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			20	3022	+			912					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2734G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350640	0.41599	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-0.49;-0.49;-1.14;-0.49	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02286	-0.61	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57676	-0.7770	10	0.02654	T	1	-15.7009	18.7141	0.91668	0.0:0.0:1.0:0.0	.	912	O95347	SMC2_HUMAN	K	912	ENSP00000286398:E912K;ENSP00000363925:E912K;ENSP00000306152:E912K;ENSP00000363919:E912K	ENSP00000286398:E912K	E	+	1	0	SMC2	105929526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.084000	0.71335	2.763000	0.94921	0.650000	0.86243	GAA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			9	271	0	0	0	1	0	9	271					A	106889705	G	A	106889705	3	1	77	1	0	0	0	0	1	0	0	0	14833	1175	41	2	2808	2	SMC2	9	106889705	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	69352472	106889705	34323726	66	10083											
ROD1	9991	broad.mit.edu	37	chr9	114990659	114990659	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattattaatcattagtaCctagctgagcttgatttgca	6	6	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:114990659C>T	ENST00000374255.2	-	12	1379		c.e12+1		PTBP3_ENST00000334318.6_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										atCATTAGTACCTAGCTGAGC	0.323																																						ENST00000334318.6																			0											c.e12+1		polypyrimidine tract binding protein 3							80	76	77					9																	114990659		2203	4300	6503	SO:0001630	splice_region_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:114990659C>T	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1231+1G>A	9.37:g.114990659C>T						PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site		NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			12	1427	-								B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Splice_Site	SNP	ENST00000374255.2	37		CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652319	0.88056	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4289	0.94756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROD1	114030480	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.339000	0.79282	2.770000	0.95276	0.655000	0.94253	.		0.323	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		Intron	8	238	0	0	0	1	0	8	238					T	114990659	C	T	114990659	5	4	77	1	0	0	0	0	0	0	1	0	13569	521	18	2	442	2	ROD1	9	114990659	Splice_Site	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	8100954	114990659	26222772	67	10084											
CEP110	11064	broad.mit.edu	37	chr9	123937395	123937395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaggagacaagtagatGctttaggggaattggtcacc	14	5	1	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:123937395G>A	ENST00000373855.1	+	43	7107	c.6847G>A	c.(6847-6849)Gct>Act	p.A2283T	CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2283	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGTAGATGCTTTAGGGGA	0.498																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6847-6849)Gct>Act		centriolin							138	133	135					9																	123937395		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123937395G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6847G>A	9.37:g.123937395G>A	ENSP00000362962:p.Ala2283Thr					CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T	p.A2283T			Q7Z7A1	CNTRL_HUMAN			43	7107	+			2283			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6847G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368628	0.42003	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.35973	1.64;1.64;1.28	5.33	5.33	0.75918	.	.	.	.	.	T	0.37517	0.1006	M	0.61703	1.905	0.43355	D	0.995422	B	0.18310	0.027	B	0.15052	0.012	T	0.20974	-1.0259	9	0.16420	T	0.52	.	18.0072	0.89213	0.0:0.0:1.0:0.0	.	2283	Q7Z7A1	CNTRL_HUMAN	T	2283;2283;2283;440;1731;965	ENSP00000362962:A2283T;ENSP00000238341:A2283T;ENSP00000362956:A1731T	ENSP00000238341:A2283T	A	+	1	0	CNTRL	122977216	0.975000	0.34042	0.844000	0.33320	0.895000	0.52256	3.716000	0.54904	2.479000	0.83701	0.555000	0.69702	GCT		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		6	297	0	0	0	1	0	6	297					A	123937395	G	A	123937395	3	1	77	1	0	0	0	0	1	0	0	0	3254	1319	46	2	7009	2	CEP110	9	123937395	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	8946736	123937395	17276036	68	10085											
TUBB8	347688	broad.mit.edu	37	chr10	95170	95170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgatctgcgtgagcacgatCtccctcatggccaaggcggg	13	14	3	1	rs561104222	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:95170C>T	ENST00000309812.4	-	1	71	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000332708.5_Silent_p.E3E	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	3					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672													c|||	14	0.00279553	0.0008	0.0029	5008	,	,		14530	0.0		0.004	False		,,,				2504	0.0072				Pancreas(192;2041 3010 9013 18103)	ENST00000309812.4																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(7-9)gaG>gaA		tubulin, beta 8 class VIII							18	16	17					10																	95170		2196	4294	6490	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:95170C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.9G>A	10.37:g.95170C>T						TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000332708.5_Silent_p.E3E	p.E3E	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	1	71	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	3					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.9G>A	CCDS7051.1																																																																																				0.672	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		9	23	0	0	0	1	0	9	23					T	95170	C	T	95170	2	4	77	1	0	0	0	0	0	0	0	1	16815	912	32	2		2	TUBB8	10	95170	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		95170	135439577	69	10086											
ECD	11319	broad.mit.edu	37	chr10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcaccaattgtgcatAtagacatttagtgaatgtga	9	5	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Missense_Mutation_p.Y269H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(805-807)Tat>Cat		ecdysoneless homolog (Drosophila)							88	81	84					10																	74912158		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74912158A>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.805T>C	10.37:g.74912158A>G	ENSP00000362070:p.Tyr269His					ECD_ENST00000454759.1_Intron|ECD_ENST00000430082.1_Missense_Mutation_p.Y269H	p.Y269H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			7	1011	-	Prostate(51;0.0119)		269					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.805T>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845475	0.91197	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000453402	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	-18.1447	14.2899	0.66270	1.0:0.0:0.0:0.0	.	269;269	C9JX46;O95905	.;SGT1_HUMAN	H	269;269;195	ENSP00000362070:Y269H;ENSP00000401566:Y269H;ENSP00000391367:Y195H	ENSP00000362070:Y269H	Y	-	1	0	ECD	74582164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.234000	0.95347	2.255000	0.74692	0.533000	0.62120	TAT		0.433	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		96	179	0	0	0	1	0	96	179					G	74912158	A	G	74912158	3	3	77	1	0	0	0	0	1	0	0	0	4904	449	16	4	1264	4	ECD	10	74912158	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	74816988	74912158	60622589	70	10087											
CDHR1	92211	broad.mit.edu	37	chr10	85968486	85968486	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactctccaaattctctaggGagccaatgccaaattcaact	5	13	3	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000440770.2_Splice_Site_p.G149E|CDHR1_ENST00000332904.3_Splice_Site_p.G390E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.e12-1		cadherin-related family member 1							69	69	69					10																	85968486		2203	4300	6503	SO:0001630	splice_region_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85968486G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1168-1G>A	10.37:g.85968486G>A						CDHR1_ENST00000440770.2_Splice_Site_p.G149_splice|CDHR1_ENST00000332904.3_Splice_Site_p.G390_splice	p.G390_splice	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			12	1272	+			390			Cadherin 4.		Q69YZ8|Q8IXY5	Splice_Site	SNP	ENST00000372117.3	37	c.1167_splice	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705035	0.88924	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64991	-0.05;-0.05;-0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.90922	3.16	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	0.86541	0.1828	10	0.56958	D	0.05	-10.8744	18.2373	0.89954	0.0:0.0:1.0:0.0	.	149;390;390	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	390;390;149	ENSP00000331063:G390E;ENSP00000361189:G390E;ENSP00000415980:G149E	ENSP00000331063:G390E	G	+	2	0	CDHR1	85958466	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.599000	0.87857	0.655000	0.94253	GGA		0.453	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	Missense_Mutation	34	99	0	0	0	1	0	34	99					A	85968486	G	A	85968486	5	1	77	1	0	0	0	0	0	0	1	0	3127	1188	41	2	1215	2	CDHR1	10	85968486	Splice_Site	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	11056328	85968486	49566261	71	10088											
BTRC	8945	broad.mit.edu	37	chr10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgtgccagactctgCttaaaccaagaaacagtatg	8	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000408038.2_Missense_Mutation_p.C51W|BTRC_ENST00000393441.4_Missense_Mutation_p.C46W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(259-261)tgC>tgG		beta-transducin repeat containing E3 ubiquitin protein ligase							108	100	102					10																	103239151		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103239151C>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.261C>G	10.37:g.103239151C>G	ENSP00000359206:p.Cys87Trp					BTRC_ENST00000408038.2_Missense_Mutation_p.C51W|BTRC_ENST00000393441.4_Missense_Mutation_p.C46W	p.C87W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	4	379	+		Colorectal(252;0.234)	87					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.261C>G	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988372	0.74589	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000539411;ENST00000370183	T;T;T	0.62232	0.24;0.3;0.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.58949	0.2158	N	0.19112	0.55	0.58432	D	0.999999	P;P;D	0.54047	0.939;0.876;0.964	P;P;P	0.49853	0.506;0.609;0.624	T	0.61337	-0.7083	10	0.45353	T	0.12	-10.7863	19.4281	0.94754	0.0:1.0:0.0:0.0	.	61;51;87	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	87;46;51;25;69	ENSP00000359206:C87W;ENSP00000377088:C46W;ENSP00000385339:C51W	ENSP00000359202:C69W	C	+	3	2	BTRC	103229141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.642000	0.89623	0.655000	0.94253	TGC		0.353	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		90	177	0	0	0	1	0	90	177					G	103239151	C	G	103239151	3	3	77	1	0	0	0	0	1	0	0	0	1573	805	28	5	275	5	BTRC	10	103239151	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	17270665	103239151	32295596	72	10089											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	8	15	2	0	rs147065829		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1069-1071)cGt>cAt		leucine rich repeat containing 27		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	151	146		975,975,1070,975	-8.8	0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P	p.R357H			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1265	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1070G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		7	890	0	0	0	1	0	7	890					A	134165159	G	A	134165159	2	1	77	1	0	0	0	0	0	0	0	1	9019	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	30926008	134165159	1369588	73	10090											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629160	1629160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactgggagcagctgggCttgcagcagctggactggca	17	10	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:1629160C>T	ENST00000399685.1	-	1	533	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	152	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCAGCTGGGCTTGCAGCAGC	0.637																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(454-456)aaG>aaA		keratin associated protein 5-3							123	136	132					11																	1629160		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629160C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.456G>A	11.37:g.1629160C>T							p.K152K	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	533	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.456G>A	CCDS41591.1																																																																																				0.637	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			8	892	0	0	0	1	0	8	892					T	1629160	C	T	1629160	2	4	77	1	0	0	0	0	0	0	0	1	8593	796	28	2		2	KRTAP5-3	11	1629160	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		1629160	133377356	74	10091											
OR5M8	219484	broad.mit.edu	37	chr11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaatttgtaattcccGgcgactggtcagtcccagga	13	9	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(58-60)Cgg>Tgg		olfactory receptor, family 5, subfamily M, member 8							79	84	82					11																	56258789		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258789G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.58C>T	11.37:g.56258789G>A	ENSP00000323354:p.Arg20Trp						p.R20W	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	82	-	Esophageal squamous(21;0.00352)		20					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.58C>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154606	0.21371	.	.	ENSG00000181371	ENST00000327216	T	0.00012	9.32	4.13	-0.307	0.12777	.	1.292630	0.06259	U	0.693636	T	0.00073	0.0002	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14282	-1.0478	10	0.87932	D	0	0.1659	2.6013	0.04867	0.0964:0.1586:0.2929:0.4521	.	20	Q8NGP6	OR5M8_HUMAN	W	20	ENSP00000323354:R20W	ENSP00000323354:R20W	R	-	1	2	OR5M8	56015365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	-0.005000	0.14395	-1.826000	0.00596	CGG		0.478	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		117	262	0	0	0	1	0	117	262					A	56258789	G	A	56258789	3	1	77	1	0	0	0	0	1	0	0	0	11218	1115	39	1	881	1	OR5M8	11	56258789	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	54629629	56258789	78747727	75	10092											
CORO1B	57175	broad.mit.edu	37	chr11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cactcgcttggtgtgcccctCcagtaccaccaccggctctg	9	18	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000341356.5	-	4	495	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(385-387)Gag>Cag		coronin, actin binding protein, 1B							68	53	58					11																	67209273		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209273C>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.385G>C	11.37:g.67209273C>G	ENSP00000340211:p.Glu129Gln					CORO1B_ENST00000341356.5_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q	p.E129Q	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		5	488	-			129					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.385G>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110965	0.37242	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.6	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38548	N	0.001648	T	0.38214	0.1032	N	0.12569	0.235	0.49582	D	0.9998	B;B;B	0.28933	0.03;0.054;0.228	B;B;B	0.30782	0.032;0.027;0.12	T	0.13098	-1.0522	10	0.15952	T	0.53	-30.956	14.16	0.65441	0.0:0.8485:0.1515:0.0	.	129;129;129	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	Q	129;129;156;129;129	ENSP00000377471:E129Q;ENSP00000340211:E129Q;ENSP00000416006:E129Q;ENSP00000438056:E129Q	ENSP00000340211:E129Q	E	-	1	0	CORO1B	66965849	1.000000	0.71417	0.778000	0.31720	0.027000	0.11550	5.697000	0.68295	1.094000	0.41399	0.563000	0.77884	GAG		0.667	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		45	166	0	0	0	1	0	45	166					G	67209273	C	G	67209273	3	3	77	1	0	0	0	0	1	0	0	0	3763	864	30	5	1116	5	CORO1B	11	67209273	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	10950484	67209273	67797243	76	10093											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtggctcctgtgggggctCcaagggggactgtggctcct	17	12	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(196-198)tCc>tGc		keratin associated protein 5-8							91	123	112					11																	71249298		2195	4294	6489	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249298C>G	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.197C>G	11.37:g.71249298C>G	ENSP00000420723:p.Ser66Cys						p.S66C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	228	+			66			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.197C>G	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.272812	0.01421	.	.	ENSG00000241233	ENST00000398534	T	0.01464	4.86	1.57	-2.72	0.05968	.	.	.	.	.	T	0.00906	0.0030	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47407	-0.9120	9	0.66056	D	0.02	.	1.4457	0.02364	0.2034:0.2381:0.404:0.1545	.	66	O75690	KRA58_HUMAN	C	66	ENSP00000420723:S66C	ENSP00000420723:S66C	S	+	2	0	KRTAP5-8	70926946	0.625000	0.27111	0.316000	0.25252	0.039000	0.13416	-0.432000	0.06956	-0.741000	0.04797	-0.287000	0.09952	TCC		0.662	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		15	955	0	0	0	1	0	15	955					G	71249298	C	G	71249298	3	3	77	1	0	0	0	0	1	0	0	0	8598	855	30	5	199	5	KRTAP5-8	11	71249298	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4040025	71249298	63757218	77	10094											
DSCAML1	57453	broad.mit.edu	37	chr11	117376404	117376404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaatgtagagcagctggccGatggaggcgggtgggaattc	19	6	0	1	rs140529836	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0					ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2005-2007)atC>atT		Down syndrome cell adhesion molecule like 1		G		4,4398	8.1+/-20.4	0,4,2197	80	64	69		2007	-3.8	0.9	11	dbSNP_134	69	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		669/2114	117376404	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117376404G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2007C>T	11.37:g.117376404G>A						DSCAML1_ENST00000527706.1_Silent_p.I399I	p.I669I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	9	2008	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	609			Ig-like C2-type 7.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2007C>T	CCDS8384.1																																																																																				0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		35	123	0	0	0	1	0	35	123					A	117376404	G	A	117376404	2	1	77	1	0	0	0	0	0	0	0	1	4785	1048	37	1		1	DSCAML1	11	117376404	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	46127106	117376404	17630112	78	10095											
IFT46	56912	broad.mit.edu	37	chr11	118416125	118416125	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatgcttggctcaccTgtgagttcttgaattctgag	10	11	3	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264021.3	-	11	1236	c.818A>G	c.(817-819)cAg>cGg	p.Q273R	TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Splice_Site_p.Q324R|IFT46_ENST00000530872.1_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	273					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.e12+1		intraflagellar transport 46 homolog (Chlamydomonas)							132	135	134					11																	118416125		2200	4295	6495	SO:0001630	splice_region_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118416125T>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.819+1A>G	11.37:g.118416125T>C						IFT46_ENST00000264021.3_Splice_Site_p.Q273_splice|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron	p.Q324_splice	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			12	1348	-			273					A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	37	c.972_splice	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756597	0.69648	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.51325	0.74;0.71	6.03	6.03	0.97812	.	0.122109	0.56097	D	0.000029	T	0.72630	0.3484	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.964	T	0.75906	-0.3152	10	0.48119	T	0.1	-1.6128	16.5655	0.84588	0.0:0.0:0.0:1.0	.	273;324	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	R	273;324	ENSP00000264021:Q273R;ENSP00000264020:Q324R	ENSP00000264020:Q324R	Q	-	2	0	IFT46	117921335	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.966000	0.76073	2.302000	0.77476	0.533000	0.62120	CAG		0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153	Missense_Mutation	169	334	0	0	0	1	0	169	334					C	118416125	T	C	118416125	5	2	77	1	0	0	0	0	0	0	1	0	7590	1594	55	4	104	4	IFT46	11	118416125	Splice_Site	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	1039721	118416125	16590391	79	10096											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	10	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155	134	140					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	225	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		4	235	0	0	0	1	0	4	235					G	128426243	A	G	128426243	3	3	77	1	0	0	0	0	1	0	0	0	5293	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	10010118	128426243	6580273	80	10097											
PZP	5858	broad.mit.edu	37	chr12	9303328	9303328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaaggaaaaacttagCgtctgatttgtcacctgaaa	8	8	2	3	rs371639831		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1432					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)			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						AAAAACTTAGCGTCTGATTTG	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				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						c.(4294-4296)acG>acA		pregnancy-zone protein							107	103	105					12																	9303328		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9303328C>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.4296G>A	12.37:g.9303328C>T						PZP_ENST00000381997.2_Silent_p.T1218T	p.T1432T	NM_002864.2	NP_002855.2					34	4324	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.4296G>A	CCDS8600.1																																																																																				0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		86	195	0	0	0	1	0	86	195					T	9303328	C	T	9303328	2	4	77	1	0	0	0	0	0	0	0	1	12919	755	27	1		1	PZP	12	9303328	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		9303328	124548567	81	10098											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		72	183	0	0	0	1	0	72	183					T	25398284	C	T	25398284	3	4	77	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	16094956	25398284	108453611	82	10099											
ITPR2	3709	broad.mit.edu	37	chr12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T													gggatcccggtcaacgtgcaINStgtggagcatgaggcgacag					rs374341078		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					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)		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)	GTCAACGTGCATGTGGAGCATG	0.554																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(2353-2355)gcafs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	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.chr12:26809320_26809321insT	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.2354dupA	12.37:g.26809321_26809321dupT	ENSP00000370744:p.Met785fs						p.A785fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2769_2770	-	Colorectal(261;0.0847)		785					O94773	Frame_Shift_Ins	INS	ENST00000381340.3	37	c.2353_2354insA	CCDS41764.1																																																																																				0.554	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		105	204						105	204	---	---	---	---	T	26809321	-	T	26809320	7	5	77	1	0	1	1	0	0	0	0	0	7951	217	8	0	5907	0	ITPR2	12	26809320	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	1411036	26809320	107042575	83	10100											
C12orf11	55726	broad.mit.edu	37	chr12	27078694	27078694	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatttcaacactcacCtcttttttagaacgatcaga	3	10	5	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:27078694C>G	ENST00000261191.7	-	6	1211	c.675G>C	c.(673-675)gaG>gaC	p.E225D	ASUN_ENST00000539625.1_Splice_Site_p.E124D	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	225					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAACACTCACCTCTTTTTTAG	0.348																																						ENST00000261191.7																			0											c.e6+1		asunder spermatogenesis regulator							95	93	94					12																	27078694		2202	4300	6502	SO:0001630	splice_region_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27078694C>G	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.675+1G>C	12.37:g.27078694C>G						ASUN_ENST00000539625.1_Splice_Site_p.E124_splice	p.E225_splice	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			6	1211	-			225					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Splice_Site	SNP	ENST00000261191.7	37	c.675_splice	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409355	0.62399	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.76	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.31065	0.9	0.58432	D	0.999994	B	0.06786	0.001	B	0.12156	0.007	T	0.07009	-1.0795	9	.	.	.	-8.5557	7.2815	0.26314	0.1533:0.7342:0.0:0.1125	.	225	Q9NVM9	M89BB_HUMAN	D	225;124;124;225	ENSP00000261191:E225D;ENSP00000443724:E124D;ENSP00000448467:E124D;ENSP00000446183:E225D	.	E	-	3	2	C12orf11	26969961	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.975000	0.49281	0.460000	0.27045	0.585000	0.79938	GAG		0.348	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	Missense_Mutation	57	158	0	0	0	1	0	57	158					G	27078694	C	G	27078694	5	3	77	1	0	0	0	0	0	0	1	0	1680	695	24	5	1493	5	C12orf11	12	27078694	Splice_Site	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	269374	27078694	106773201	84	10101											
ACCN2	41	broad.mit.edu	37	chr12	50452799	50452799	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgacgaggtggctgcctctCagcttaccttccctgctgtc	10	15	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:50452799C>G	ENST00000447966.2	+	2	479	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	ASIC1_ENST00000228468.4_Missense_Mutation_p.Q84E	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	84					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGCTGCCTCTCAGCTTACCTT	0.582																																						ENST00000228468.4																			0											c.(250-252)Cag>Gag		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						192	136	155					12																	50452799		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452799C>G	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.250C>G	12.37:g.50452799C>G	ENSP00000400228:p.Gln84Glu					ASIC1_ENST00000447966.2_Missense_Mutation_p.Q84E	p.Q84E	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	635	+			84					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.250C>G	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511702	0.04200	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.62232	0.04;0.04	4.83	4.83	0.62350	.	0.663254	0.14534	N	0.313671	T	0.33206	0.0855	N	0.02916	-0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.23619	-1.0183	10	0.02654	T	1	-20.7445	12.1838	0.54226	0.2837:0.7163:0.0:0.0	.	84;84	P78348;P78348-1	ACCN2_HUMAN;.	E	84	ENSP00000228468:Q84E;ENSP00000400228:Q84E	ENSP00000228468:Q84E	Q	+	1	0	ACCN2	48739066	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.621000	0.46418	2.404000	0.81709	0.462000	0.41574	CAG		0.582	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		63	203	0	0	0	1	0	63	203					G	50452799	C	G	50452799	3	3	77	1	0	0	0	0	1	0	0	0	129	827	29	5	252	5	ACCN2	12	50452799	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	23374105	50452799	83399096	85	10102											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	727						9	727	---	---	---	---	-	55615116	CTT	-	55615114	7	5	77	1	0	1	0	1	0	0	0	0	10937	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-HZ-A8P1-01A-11D-A377-08	5162315	55615114	78236781	86	10103											
C12orf64	283310	broad.mit.edu	37	chr12	80747175	80747175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaagaacatgcctgaaCcaatggttctatggacacac	9	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:80747175C>A	ENST00000547103.1	+	45	5421	c.5415C>A	c.(5413-5415)aaC>aaA	p.N1805K	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Missense_Mutation_p.N1817K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1805					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGCCTGAACCAATGGTTCT	0.453																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5449-5451)aaC>aaA		otogelin-like							75	72	73					12																	80747175		1946	4133	6079	SO:0001583	missense	283310							g.chr12:80747175C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5415C>A	12.37:g.80747175C>A	ENSP00000447211:p.Asn1805Lys					OTOGL_ENST00000547103.1_Missense_Mutation_p.N1805K	p.N1817K	NM_173591.3	NP_775862.3					45	5457	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5451C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.623012|3.623012	0.66901|0.66901	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	D;D|.	0.81821|.	-1.54;-1.54|.	5.74|5.74	0.755|0.755	0.18415|0.18415	.|.	.|.	.|.	.|.	.|.	T|T	0.67382|0.67382	0.2887|0.2887	M|M	0.90198|0.90198	3.095|3.095	0.28923|0.28923	N|N	0.892009|0.892009	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63171|0.63171	-0.6697|-0.6697	7|5	0.49607|.	T|.	0.09|.	.|.	8.2181|8.2181	0.31526|0.31526	0.0:0.4404:0.0:0.5596|0.0:0.4404:0.0:0.5596	.|.	.|.	.|.	.|.	K|N	1805;1817|260	ENSP00000447211:N1805K;ENSP00000400895:N1817K|.	ENSP00000400895:N1817K|.	N|T	+|+	3|2	2|0	OTOGL|OTOGL	79271306|79271306	0.609000|0.609000	0.26975|0.26975	0.986000|0.986000	0.45419|0.45419	0.977000|0.977000	0.68977|0.68977	0.756000|0.756000	0.26419|0.26419	0.355000|0.355000	0.24131|0.24131	0.655000|0.655000	0.94253|0.94253	AAC|ACC		0.453	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		18	32	1	0	7.07596e-05	1	7.33327e-05	18	32					A	80747175	C	A	80747175	3	1	77	1	0	0	0	0	1	0	0	0	1712	506	18	3	5629	3	C12orf64	12	80747175	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	25132061	80747175	53104720	87	10104											
MYF6	4618	broad.mit.edu	37	chr12	81101627	81101627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatggtaccttgtccccCtgccaggaccaaatgccccc	9	16	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(127-129)ccC>ccT		myogenic factor 6 (herculin)							69	72	71					12																	81101627		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101627C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.129C>T	12.37:g.81101627C>T							p.P43P	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	351	+			43					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.129C>T	CCDS9019.1																																																																																				0.597	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		91	186	0	0	0	1	0	91	186					T	81101627	C	T	81101627	2	4	77	1	0	0	0	0	0	0	0	1	10069	668	24	2		2	MYF6	12	81101627	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	354452	81101627	52750268	88	10105											
UGGT2	55757	broad.mit.edu	37	chr13	96675949	96675949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactttaaaaggttgatGtgtaaattgtctagaaactg	9	4	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000376712.4_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(304-306)caC>caT		UDP-glucose glycoprotein glucosyltransferase 2							100	101	101					13																	96675949		2203	4300	6503	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675949G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.306C>T	13.37:g.96675949G>A						UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			3	376	-			102					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.306C>T	CCDS9480.1																																																																																				0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		136	290	0	0	0	1	0	136	290					A	96675949	G	A	96675949	2	1	77	1	0	0	0	0	0	0	0	1	16996	1368	48	2		2	UGGT2	13	96675949	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		96675949	18493929	89	10106											
IPO5	3843	broad.mit.edu	37	chr13	98666315	98666315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttcgagtggcagcagcGgaatccatgcctcttctcct	11	13	2	0	rs182747248	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000490680.1	+	19	2237	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	IPO5_ENST00000261574.5_Silent_p.A742A|IPO5_ENST00000539640.1_Silent_p.A599A			O00410	IPO5_HUMAN	importin 5	724					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16157	0.0		0.001	False		,,,				2504	0.0					ENST00000261574.5																			1	Substitution - coding silent(1)	p.A742A(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(2224-2226)gcG>gcA		importin 5							119	121	120					13																	98666315		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98666315G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2172G>A	13.37:g.98666315G>A						IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000490680.1_Silent_p.A724A	p.A742A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			22	2406	+			724					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.2226G>A		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.67	1.415607	0.25552	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.75	-3.63	0.04529	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-3.754	6.4092	0.21682	0.4783:0.338:0.1837:0.0	.	.	.	.	Q	726	.	.	R	+	2	0	IPO5	97464316	0.954000	0.32549	0.947000	0.38551	0.989000	0.77384	0.135000	0.15952	-0.437000	0.07243	-0.294000	0.09567	CGG		0.428	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		7	405	0	0	0	1	0	7	405					A	98666315	G	A	98666315	2	1	77	1	0	0	0	0	0	0	0	1	7826	1103	39	1		1	IPO5	13	98666315	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1990366	98666315	16503563	90	10107											
MCF2L	23263	broad.mit.edu	37	chr13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctgccgttggcattaCggagaacgtgaagggagatg	17	6	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000375608.3	+	24	2763	c.2705C>T	c.(2704-2706)aCg>aTg	p.T902M	MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T905M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2713-2715)aCg>aTg		MCF.2 cell line derived transforming sequence-like							158	102	121					13																	113742040		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742040C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2705C>T	13.37:g.113742040C>T	ENSP00000364758:p.Thr902Met					MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375608.3_Missense_Mutation_p.T902M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M	p.T905M			O15068	MCF2L_HUMAN			23	2751	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	902			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2714C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540927|2.540927	0.45280|0.45280	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.76968	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;-1.06	5.08|5.08	4.24|4.24	0.50183|0.50183	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.95982|0.95982	3.75|3.75	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.93344|0.93344	0.6712|0.6712	5|10	.|0.87932	.|D	.|0	.|.	13.4666|13.4666	0.61258|0.61258	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|870;872;929;870;902	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	W|M	102;43|902;902;929;905;872;876;876;878;870;870;713	.|ENSP00000364758:T902M;ENSP00000401422:T902M;ENSP00000364754:T929M;ENSP00000380225:T905M;ENSP00000440374:T872M;ENSP00000397285:T876M;ENSP00000364751:T876M;ENSP00000407722:T878M;ENSP00000405639:T870M;ENSP00000364747:T870M	.|ENSP00000364747:T870M	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112790041|112790041	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.010000|0.010000	0.07245|0.07245	7.611000|7.611000	0.82962|0.82962	1.132000|1.132000	0.42129|0.42129	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			36	96	0	0	0	1	0	36	96					T	113742040	C	T	113742040	3	4	77	1	0	0	0	0	1	0	0	0	9420	536	19	1	2971	1	MCF2L	13	113742040	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	15075725	113742040	1427838	91	10108											
NYNRIN	57523	broad.mit.edu	37	chr14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-													cgccttccagagccgcccggAcaccccctacttctggctac							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(139-141)gfs		NYN domain and retroviral integrase containing																																				SO:0001589	frameshift_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24868592_24868593delAC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.140_141delAC	14.37:g.24868594_24868595delAC	ENSP00000371994:p.Asp47fs						p.D47fs	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			2	458_459	+			47					Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Del	DEL	ENST00000382554.3	37	c.140_141delAC	CCDS45090.1																																																																																				0.604	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			18	64						18	64	---	---	---	---	-	24868593	AC	-	24868592	7	5	77	1	0	1	0	1	0	0	0	0	10838	275	10	0	142	0	NYNRIN	14	24868592	Frame_Shift_Del	DEL	AC	TCGA-HZ-A8P1-01A-11D-A377-08		24868592	82480948	92	10109											
SAMD4A	23034	broad.mit.edu	37	chr14	55226887	55226887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccgtccaggacatcatCgaggggggcagcctgcgcat	13	14	2	0	rs201991552	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000554335.1	+	7	1848	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000251091.5_Silent_p.I307I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		15963	0.0069		0.0	False		,,,				2504	0.0					ENST00000251091.5																			1	Substitution - coding silent(1)	p.I394I(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(919-921)atC>atT		sterile alpha motif domain containing 4A							100	112	108					14																	55226887		2187	4267	6454	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55226887C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1185C>T	14.37:g.55226887C>T						SAMD4A_ENST00000554335.1_Silent_p.I395I|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000392067.3_Silent_p.I395I	p.I307I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			5	1226	+			395					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.921C>T	CCDS32084.2																																																																																				0.632	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		7	803	0	0	0	1	0	7	803					T	55226887	C	T	55226887	2	4	77	1	0	0	0	0	0	0	0	1	13871	874	31	1		1	SAMD4A	14	55226887	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	30358295	55226887	52122653	93	10110											
GABRG3	2567	broad.mit.edu	37	chr15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggactcgtactccCgggtctttttccccacgtcc	10	15	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCGTACTCCCGGGTCTTTTT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1336-1338)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, gamma 3							76	78	77					15																	27777959		1956	4136	6092	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777959C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1336C>T	15.37:g.27777959C>T	ENSP00000331912:p.Arg446Trp					RP11-100M12.3_ENST00000556642.1_RNA	p.R446W	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1590	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	446					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1336C>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852493	0.71719	.	.	ENSG00000182256	ENST00000333743	D	0.86366	-2.11	5.75	2.63	0.31362	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.061993	0.64402	D	0.000007	D	0.93327	0.7873	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92650	0.6132	10	0.87932	D	0	.	9.021	0.36200	0.471:0.4096:0.1194:0.0	.	446	Q99928	GBRG3_HUMAN	W	446	ENSP00000331912:R446W	ENSP00000331912:R446W	R	+	1	2	GABRG3	25451554	0.997000	0.39634	0.480000	0.27341	0.902000	0.53008	3.752000	0.55172	0.748000	0.32831	0.650000	0.86243	CGG		0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			35	121	0	0	0	1	0	35	121					T	27777959	C	T	27777959	3	4	77	1	0	0	0	0	1	0	0	0	6200	643	23	1	1374	1	GABRG3	15	27777959	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		27777959	74753433	94	10111											
C15orf44	81556	broad.mit.edu	37	chr15	65890685	65890685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgactttagggataggaTcaatttcttcatctacaaca	6	7	4	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:65890685T>C	ENST00000395644.4	-	6	1057	c.722A>G	c.(721-723)gAt>gGt	p.D241G	VWA9_ENST00000313182.2_Missense_Mutation_p.D241G|VWA9_ENST00000569491.1_Missense_Mutation_p.D192G|VWA9_ENST00000567744.1_Missense_Mutation_p.D277G|VWA9_ENST00000431261.2_Missense_Mutation_p.D162G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000442903.3_Missense_Mutation_p.D205G			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	241																	AGGGATAGGATCAATTTCTTC	0.378																																						ENST00000395644.4																			0											c.(721-723)gAt>gGt		von Willebrand factor A domain containing 9							96	95	95					15																	65890685		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65890685T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.722A>G	15.37:g.65890685T>C	ENSP00000379006:p.Asp241Gly					VWA9_ENST00000431261.2_Missense_Mutation_p.D162G|VWA9_ENST00000313182.2_Missense_Mutation_p.D241G|VWA9_ENST00000567744.1_Missense_Mutation_p.D277G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000569491.1_Missense_Mutation_p.D192G|VWA9_ENST00000442903.3_Missense_Mutation_p.D205G	p.D241G							6	1057	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.722A>G		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630436	0.46944	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.86	5.86	0.93980	.	0.092655	0.64402	D	0.000001	T	0.53433	0.1796	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.0;0.001	B;B;B;B	0.11329	0.006;0.004;0.001;0.003	T	0.47249	-0.9132	9	0.23302	T	0.38	-28.6845	16.2605	0.82541	0.0:0.0:0.0:1.0	.	192;205;277;241	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	G	241;241;162;184;205	.	ENSP00000326379:D241G	D	-	2	0	C15orf44	63677738	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.831000	0.86748	2.237000	0.73441	0.460000	0.39030	GAT		0.378	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		81	199	0	0	0	1	0	81	199					C	65890685	T	C	65890685	3	2	77	1	0	0	0	0	1	0	0	0	1803	1435	50	4	862	4	C15orf44	15	65890685	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	38112726	65890685	36640707	95	10112											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		9	771						9	771	---	---	---	---	-	69328210	CTG	-	69328208	7	5	77	1	0	1	0	1	0	0	0	0	10601	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-HZ-A8P1-01A-11D-A377-08	3437523	69328208	33203184	96	10113											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcagtgaggaggcagCggccctggtggaagacttga	17	7	0	4	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22777	0.001		0.0	False		,,,				2504	0.0					ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(364-366)gCg>gTg		zinc finger and SCAN domain containing 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63	56	58		365,365,365	-1.3	0.1	15	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZSCAN2	NM_001007072.1,NM_017894.5,NM_181877.3	64,64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	122/147,122/151,122/615	85147523	1,13003	2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85147523C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.365C>T	15.37:g.85147523C>T	ENSP00000410198:p.Ala122Val					ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V	p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	2	657	+			122			SCAN box.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.365C>T	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284280	0.05605	0.0	1.16E-4	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.63	-1.28	0.09318	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.282320	0.24927	N	0.034484	T	0.00784	0.0026	N	0.00301	-1.68	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.0;0.001;0.003	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.001	T	0.44019	-0.9355	10	0.13853	T	0.58	-9.9035	3.0178	0.06065	0.2893:0.2494:0.0:0.4613	.	122;122;122;122;122;122;122	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	V	122;122;122;122;122;122;122;122;103	ENSP00000410198:A122V;ENSP00000445451:A122V;ENSP00000333895:A122V;ENSP00000368663:A122V;ENSP00000325123:A122V;ENSP00000441342:A122V;ENSP00000439132:A122V;ENSP00000440004:A122V	ENSP00000325123:A122V	A	+	2	0	ZSCAN2	82948527	0.992000	0.36948	0.081000	0.20488	0.858000	0.48976	0.340000	0.19892	-0.444000	0.07170	-0.290000	0.09829	GCG		0.567	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		51	129	0	0	0	1	0	51	129					T	85147523	C	T	85147523	3	4	77	1	0	0	0	0	1	0	0	0	18284	768	27	1	367	1	ZSCAN2	15	85147523	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	15819315	85147523	17383869	97	10114											
ANKS3	124401	broad.mit.edu	37	chr16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacgtaccccgactgCtgctgctgctgctgctctcc	12	16	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N|ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	334	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCCCGActgctgctgctgct	0.662																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(1000-1002)aGc>aAc		ankyrin repeat and sterile alpha motif domain containing 3							22	23	23					16																	4752111		2197	4299	6496	SO:0001583	missense	124401							g.chr16:4752111C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1001G>A	16.37:g.4752111C>T	ENSP00000304586:p.Ser334Asn					ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	p.S334N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			9	1295	-			334			Ser-rich.		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1001G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860829	0.71834	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.55588	0.93;2.65;0.51	5.53	5.53	0.82687	.	0.199023	0.42420	D	0.000704	T	0.70263	0.3204	M	0.68952	2.095	0.42380	D	0.992485	D;B	0.76494	0.999;0.32	D;B	0.64877	0.93;0.249	T	0.69533	-0.5120	10	0.46703	T	0.11	-11.6641	18.8095	0.92053	0.0:1.0:0.0:0.0	.	128;334	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	N	334;205;128	ENSP00000304586:S334N;ENSP00000406796:S205N;ENSP00000388270:S128N	ENSP00000304586:S334N	S	-	2	0	ANKS3	4692112	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.139000	0.71728	2.769000	0.95229	0.655000	0.94253	AGC		0.662	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		4	131	0	0	0	1	0	4	131					T	4752111	C	T	4752111	3	4	77	1	0	0	0	0	1	0	0	0	690	797	28	2	1005	2	ANKS3	16	4752111	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		4752111	85602642	98	10115											
BBS2	583	broad.mit.edu	37	chr16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtattggctgggattatgCcccgatgcccatcagcctcg	12	12	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1123-1125)gGc>gAc		Bardet-Biedl syndrome 2							199	174	182					16																	56535366		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535366C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1124G>A	16.37:g.56535366C>T	ENSP00000245157:p.Gly375Asp					BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	p.G375D	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			10	1544	-			375					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1124G>A	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826572	0.71143	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.38	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.55017	1.72	0.80722	D	1	P	0.34997	0.479	B	0.37480	0.251	D	0.88279	0.2935	10	0.59425	D	0.04	-7.8682	13.8574	0.63537	0.0:0.9273:0.0:0.0727	.	375	Q9BXC9	BBS2_HUMAN	D	375	ENSP00000245157:G375D	ENSP00000245157:G375D	G	-	2	0	BBS2	55092867	1.000000	0.71417	0.627000	0.29227	0.991000	0.79684	5.495000	0.66912	1.285000	0.44548	0.650000	0.86243	GGC		0.498	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		5	498	0	0	0	1	0	5	498					T	56535366	C	T	56535366	3	4	77	1	0	0	0	0	1	0	0	0	1339	739	26	2	1073	2	BBS2	16	56535366	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	51783255	56535366	33819387	99	10116											
LRRC36	55282	broad.mit.edu	37	chr16	67409201	67409201	+	Frame_Shift_Del	DEL	C	C	-													gtttggctggaaaccacagtCcccccatctctgccagaacc							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:67409201delC	ENST00000329956.6	+	10	1565	c.1546delC	c.(1546-1548)cccfs	p.P517fs	LRRC36_ENST00000563189.1_Frame_Shift_Del_p.P396fs|LRRC36_ENST00000541146.1_Frame_Shift_Del_p.V36fs|LRRC36_ENST00000290940.7_Frame_Shift_Del_p.P249fs|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	517										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAACCACAGTCCCCCCATCTC	0.512																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1546-1548)ccfs		leucine rich repeat containing 36							180	194	190					16																	67409201		2198	4300	6498	SO:0001589	frameshift_variant	55282							g.chr16:67409201delC	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1546delC	16.37:g.67409201delC	ENSP00000329943:p.Pro517fs					LRRC36_ENST00000290940.7_Frame_Shift_Del_p.P249fs|LRRC36_ENST00000541146.1_Frame_Shift_Del_p.V36fs|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Frame_Shift_Del_p.P396fs	p.P517fs	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	10	1565	+		Ovarian(137;0.192)	517					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Frame_Shift_Del	DEL	ENST00000329956.6	37	c.1546delC	CCDS32467.1																																																																																				0.512	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		7	1522						7	1522	---	---	---	---	-	67409201	C	-	67409201	7	5	77	1	0	1	0	1	0	0	0	0	9028	855	30	0	1612	0	LRRC36	16	67409201	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08	10873835	67409201	22945552	100	10117											
DEF8	54849	broad.mit.edu	37	chr16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccctagggtgttattaccGctgtcacagtaagtgcttga	10	10	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000268676.7	+	7	799	c.710G>T	c.(709-711)cGc>cTc	p.R237L	DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000563594.1_Missense_Mutation_p.R176L|DEF8_ENST00000563795.1_Missense_Mutation_p.R176L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(526-528)cGc>cTc		differentially expressed in FDCP 8 homolog (mouse)							159	138	145					16																	90027351		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027351G>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.710G>T	16.37:g.90027351G>T	ENSP00000268676:p.Arg237Leu					DEF8_ENST00000268676.7_Missense_Mutation_p.R237L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L	p.R176L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1524	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	237					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.527G>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126553	0.77549	.	.	ENSG00000140995	ENST00000268676	D	0.83419	-1.72	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.135757	0.49916	D	0.000129	T	0.77538	0.4145	N	0.10733	0.035	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.966	P;P;P	0.56343	0.738;0.796;0.796	T	0.77247	-0.2658	10	0.25106	T	0.35	-4.7809	15.8391	0.78831	0.0:0.0:1.0:0.0	.	176;166;237	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	L	237	ENSP00000268676:R237L	ENSP00000268676:R237L	R	+	2	0	DEF8	88554852	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.982000	0.76173	2.119000	0.64992	0.462000	0.41574	CGC		0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		158	380	1	0	1.43051e-105	1	1.51936e-105	158	380					T	90027351	G	T	90027351	3	4	77	1	0	0	0	0	1	0	0	0	4398	1087	38	3	812	3	DEF8	16	90027351	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	22618150	90027351	327402	101	10118											
PRPF8	10594	broad.mit.edu	37	chr17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcatgtttcatgaggcGcatgcgggcatctcggggcc	13	11	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3421-3423)Cgc>Tgc		pre-mRNA processing factor 8							156	145	149					17																	1577065		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577065G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3421C>T	17.37:g.1577065G>A	ENSP00000460348:p.Arg1141Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C	p.R1141C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3686	-			1141					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3421C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993235	0.74703	.	.	ENSG00000174231	ENST00000304992	D	0.84800	-1.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-7.3509	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1141	Q6P2Q9	PRP8_HUMAN	C	1141	ENSP00000304350:R1141C	ENSP00000304350:R1141C	R	-	1	0	PRPF8	1523815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.833000	0.97629	0.585000	0.79938	CGC		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	420	0	0	0	1	0	5	420					A	1577065	G	A	1577065	3	1	77	1	0	0	0	0	1	0	0	0	12622	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		1577065	79618145	102	10119											
MYH2	4620	broad.mit.edu	37	chr17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgcatcagccaagccttCggcttccttaagttggaaac	8	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	902					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2704-2706)Gaa>Aaa		myosin, heavy chain 2, skeletal muscle, adult							134	130	131					17																	10433385		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433385C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2704G>A	17.37:g.10433385C>T	ENSP00000245503:p.Glu902Lys					MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E902K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			23	3088	-			902					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2704G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774792	0.70107	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	.	0.176467	0.26605	U	0.023460	D	0.89269	0.6667	H	0.95004	3.61	0.58432	D	0.999992	P	0.35411	0.5	B	0.37422	0.249	D	0.91254	0.5031	10	0.72032	D	0.01	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	902	Q9UKX2	MYH2_HUMAN	K	902	ENSP00000245503:E902K;ENSP00000380367:E902K	ENSP00000245503:E902K	E	-	1	0	MYH2	10374110	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.361000	0.79497	2.661000	0.90470	0.591000	0.81541	GAA		0.393	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	449	0	0	0	1	0	6	449					T	10433385	C	T	10433385	3	4	77	1	0	0	0	0	1	0	0	0	10076	893	31	1	3193	1	MYH2	17	10433385	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	8856320	10433385	70761825	103	10120											
SSH2	85464	broad.mit.edu	37	chr17	27957892	27957892	+	Frame_Shift_Del	DEL	T	T	-													tagaaggggttggttgtccgTtttttgtcatttgccttttt							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:27957892delT	ENST00000269033.3	-	15	4390	c.4239delA	c.(4237-4239)aaafs	p.K1413fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1440fs|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	1413					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)		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						TGGTTGTCCGTTTTTTGTCAT	0.488																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				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						c.(4237-4239)aafs		slingshot protein phosphatase 2							231	210	217					17																	27957892		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:27957892delT	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.4239delA	17.37:g.27957892delT	ENSP00000269033:p.Lys1413fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1440fs	p.K1413fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4390	-			1413					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.4239delA	CCDS11253.1																																																																																				0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	1004						7	1004	---	---	---	---	-	27957892	T	-	27957892	7	5	77	1	0	1	0	1	0	0	0	0	15237	1722	60	0	36	0	SSH2	17	27957892	Frame_Shift_Del	DEL	T	TCGA-HZ-A8P1-01A-11D-A377-08	17524507	27957892	53237318	104	10121											
BPTF	2186	broad.mit.edu	37	chr17	65899951	65899951	+	Frame_Shift_Del	DEL	A	A	-													gagaagaaaaggagaaagtcAaaaaaaaagagaagaaacag							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:65899951delA	ENST00000321892.4	+	10	3029	c.2968delA	c.(2968-2970)aaafs	p.K992fs	BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	992					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ggagaaagtcaaaaaaaaaga	0.338																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2968-2970)aafs		bromodomain PHD finger transcription factor							59	63	62					17																	65899951		2203	4300	6503	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899951delA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2968delA	17.37:g.65899951delA	ENSP00000315454:p.Lys992fs					BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs	p.K992fs			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	3029	+	all_cancers(12;6e-11)		992					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.2968delA																																																																																					0.338	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	238						7	238	---	---	---	---	-	65899951	A	-	65899951	7	5	77	1	0	1	0	1	0	0	0	0	1499	131	5	0	3006	0	BPTF	17	65899951	Frame_Shift_Del	DEL	A	TCGA-HZ-A8P1-01A-11D-A377-08	37942059	65899951	15295259	105	10122											
ABCA5	23461	broad.mit.edu	37	chr17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T													tatctttaaaaattcttttaINStttttttttctttttctgct							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I248fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATTCTTTTATTTTTTTTTCT	0.243																																						ENST00000392676.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I248L(1)|p.I248fs*1(1)	large_intestine(1)|lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(742-744)aaafs		ATP-binding cassette, sub-family A (ABC1), member 5																																				SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302911_67302912insT	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.743dupA	17.37:g.67302920_67302920dupT	ENSP00000376443:p.Ile248fs					ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs	p.K248fs			Q8WWZ7	ABCA5_HUMAN			6	806_807	-	Breast(10;3.72e-11)		248					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	c.742_743insA	CCDS11685.1																																																																																				0.243	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	167						7	167	---	---	---	---	T	67302912	-	T	67302911	7	5	77	1	0	1	1	0	0	0	0	0	35	449	16	0	4321	0	ABCA5	17	67302911	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	1402960	67302911	13892299	106	10123											
RAB12	201475	broad.mit.edu	37	chr18	8636248	8636249	+	Splice_Site	DEL	CA	CA	-													aataggtgtgtgtttcttctCagtttgcacagcagatcact							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:8636248_8636249delCA	ENST00000329286.6	+	5	799		c.e5-1		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGTTTCTTCTCAGTTTGCACAG	0.495																																						ENST00000329286.6																			0				breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.e5-1		RAB12, member RAS oncogene family																																				SO:0001630	splice_region_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8636248_8636249delCA		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"RAB, member RAS oncogene"	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.517-1CA>-	18.37:g.8636248_8636249delCA						RP11-661O13.1_ENST00000580267.1_RNA		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			5	799	+								A6NEF5|Q4KMQ3	Splice_Site	DEL	ENST00000329286.6	37		CCDS42410.1																																																																																				0.495	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967	Intron	57	117						57	117	---	---	---	---	-	8636249	CA	-	8636248	8	5	77	1	0	1	0	1	0	0	1	0	12948	841	29	0		0	RAB12	18	8636248	Splice_Site	DEL	CA	TCGA-HZ-A8P1-01A-11D-A377-08		8636248	69441000	107	10124											
SMAD4	4089	broad.mit.edu	37	chr18	48575215	48575216	+	Frame_Shift_Ins	INS	-	-	T													atatcactacgaacgagttgINStatcacctggaattggtaag							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:48575215_48575216insT	ENST00000342988.3	+	3	947_948	c.409_410insT	c.(409-411)gtafs	p.V137fs	SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.V137fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.V137fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	137	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGAACGAGTTGTATCACCTGGA	0.307																																						ENST00000342988.3																			40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(409-411)atcfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575215_48575216insT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.410dupT	18.37:g.48575216_48575216dupT	ENSP00000341551:p.Val137fs					SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.I137fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.I137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.I137fs|RP11-729L2.2_ENST00000590722.2_3'UTR	p.I137fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	947_948	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	137			MH1.		A8K405	Frame_Shift_Ins	INS	ENST00000342988.3	37	c.409_410insT	CCDS11950.1																																																																																				0.307	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		100	82						100	82	---	---	---	---	T	48575216	-	T	48575215	7	5	77	1	0	1	1	0	0	0	0	0	14810	1377	48	0	415	0	SMAD4	18	48575215	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	39938967	48575215	29502033	108	10125											
CDC37	11140	broad.mit.edu	37	chr19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccgtctttgctgagcGtgtccacgttccagggcatg	13	11	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(352-354)aCg>aTg		cell division cycle 37							132	122	125					19																	10506629		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506629G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.353C>T	19.37:g.10506629G>A	ENSP00000222005:p.Thr118Met						p.T118M	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	406	-			118					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.353C>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355303	0.61293	.	.	ENSG00000105401	ENST00000222005	T	0.50813	0.73	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.35114	0.196;0.196	T	0.70073	-0.4972	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:1.0:0.0	.	118;118	Q6FG59;Q16543	.;CDC37_HUMAN	M	118	ENSP00000222005:T118M	ENSP00000222005:T118M	T	-	2	0	CDC37	10367629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.983000	0.93477	1.969000	0.57287	0.555000	0.69702	ACG		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		9	444	0	0	0	1	0	9	444					A	10506629	G	A	10506629	3	1	77	1	0	0	0	0	1	0	0	0	3077	1145	40	1	811	1	CDC37	19	10506629	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		10506629	48622354	109	10126											
OR10H4	126541	broad.mit.edu	37	chr19	16060573	16060573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcactgtggtggtcacGcactatagttttgcctcctt	8	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(754-756)acG>acA		olfactory receptor, family 10, subfamily H, member 4							169	141	151					19																	16060573		2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060573G>A	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.756G>A	19.37:g.16060573G>A							p.T252T	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	756	+			252					Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.756G>A	CCDS32941.1																																																																																				0.517	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			15	464	0	0	0	1	0	15	464					A	16060573	G	A	16060573	2	1	77	1	0	0	0	0	0	0	0	1	10950	1074	38	1		1	OR10H4	19	16060573	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	5553944	16060573	43068410	110	10127											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	418	0	0	0	1	0	6	418					T	21606468	C	T	21606468	3	4	77	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	5545895	21606468	37522515	111	10128											
ZNF681	148213	broad.mit.edu	37	chr19	23927502	23927502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgtcacattcttcacGtttgtagggattctctccag	9	10	4	0	rs150717337		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:23927502G>A	ENST00000402377.3	-	4	991	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	284					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTCTTCACGTTTGTAGGGA	0.363																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(850-852)Cgt>Tgt		zinc finger protein 681							135	139	138					19																	23927502		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927502G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.850C>T	19.37:g.23927502G>A	ENSP00000384000:p.Arg284Cys					ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	p.R284C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	991	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	284					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.850C>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.415996	0.00191	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.04083	3.71;3.71	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.00440	0.0014	N	0.00000	-3.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.02654	T	1	.	3.8893	0.09111	0.6556:0.0:0.1587:0.1857	.	284	Q96N22	ZN681_HUMAN	C	284;215	ENSP00000384000:R284C;ENSP00000378783:R215C	ENSP00000378783:R215C	R	-	1	0	ZNF681	23719342	0.946000	0.32159	0.000000	0.03702	0.000000	0.00434	3.279000	0.51670	-2.305000	0.00654	-1.745000	0.00682	CGT		0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		107	189	0	0	0	1	0	107	189					A	23927502	G	A	23927502	3	1	77	1	0	0	0	0	1	0	0	0	18141	1145	40	1	1091	1	ZNF681	19	23927502	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	2321034	23927502	35201481	112	10129											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	5	8	2	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172	176	174					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	888	0	0	0	1	0	7	888					T	40581529	C	T	40581529	3	4	77	1	0	0	0	0	1	0	0	0	18205	478	17	2	1236	2	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	16654027	40581529	18547454	113	10130											
CEACAM5	1048	broad.mit.edu	37	chr19	42224866	42224866	+	Frame_Shift_Del	DEL	C	C	-													gccggacacccccatcatttCccccccagactcgtcttacc							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:42224866delC	ENST00000221992.6	+	8	1910	c.1796delC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)tcfs		carcinoembryonic antigen-related cell adhesion molecule 5							136	141	139					19																	42224866		2203	4300	6503	SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224866delC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1796delC	19.37:g.42224866delC	ENSP00000221992:p.Ser599fs					CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs	p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Del	DEL	ENST00000221992.6	37	c.1796delC	CCDS12584.1																																																																																				0.547	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		7	739						7	739	---	---	---	---	-	42224866	C	-	42224866	7	5	77	1	0	1	0	1	0	0	0	0	3204	855	30	0	1826	0	CEACAM5	19	42224866	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08	1643337	42224866	16904117	114	10131											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccaactacctgcaccGcatgactacgctcttctgca	6	17	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1492-1494)cGc>cAc		protein phosphatase 2, regulatory subunit A, alpha							168	139	149					19																	52724361		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724361G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1493G>A	19.37:g.52724361G>A	ENSP00000324804:p.Arg498His					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	p.R498H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1551	+			498			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1493G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	PPP2R1A	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC		0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		7	351	0	0	0	1	0	7	351					A	52724361	G	A	52724361	3	1	77	1	0	0	0	0	1	0	0	0	12429	1087	38	1	1539	1	PPP2R1A	19	52724361	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	10499495	52724361	6404622	115	10132											
ZNF816A	125893	broad.mit.edu	37	chr19	53454217	53454217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatgatgatatacaatgtAttgcttctgattaaagatct	6	5	3	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53454217A>C	ENST00000357666.4	-	5	1111	c.811T>G	c.(811-813)Tac>Gac	p.Y271D	ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	271					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATACAATGTATTGCTTCTGA	0.378																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(811-813)Tac>Gac		zinc finger protein 816							132	125	127					19																	53454217		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454217A>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.811T>G	19.37:g.53454217A>C	ENSP00000350295:p.Tyr271Asp					ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	p.Y271D	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1111	-			271					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.811T>G	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	2.570	-0.299834	0.05532	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.14516	2.5;2.5	1.75	0.592	0.17471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.13098	0.295	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.20472	-1.0274	9	0.11794	T	0.64	.	3.0944	0.06304	0.2436:0.0:0.2351:0.5213	.	271	Q0VGE8	ZN816_HUMAN	D	271	ENSP00000350295:Y271D;ENSP00000403266:Y271D	ENSP00000350295:Y271D	Y	-	1	0	ZNF816	58146029	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-6.414000	0.00067	-0.056000	0.13221	0.163000	0.16589	TAC		0.378	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		7	483	0	0	0	1	0	7	483					C	53454217	A	C	53454217	3	2	77	1	0	0	0	0	1	0	0	0	18230	449	16	4	1148	4	ZNF816A	19	53454217	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	729856	53454217	5674766	116	10133											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	849	0	0	0	1	0	7	849					A	53644386	T	A	53644386	2	1	77	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	190169	53644386	5484597	117	10134											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549369	58549369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgggccgcacctcgcGctgggccagctctggacgct	16	16	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000601162.1_Silent_p.A55A|ZSCAN1_ENST00000391700.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(163-165)gcG>gcA		zinc finger and SCAN domain containing 1							14	15	15					19																	58549369		2184	4280	6464	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549369G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.165G>A	19.37:g.58549369G>A						ZSCAN1_ENST00000601162.1_Silent_p.A55A|ZSCAN1_ENST00000391700.1_Silent_p.A55A	p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	412	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	55			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.165G>A	CCDS12969.1																																																																																				0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		27	91	0	0	0	1	0	27	91					A	58549369	G	A	58549369	2	1	77	1	0	0	0	0	0	0	0	1	18279	1074	38	1		1	ZSCAN1	19	58549369	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	4904983	58549369	579614	118	10135											
TASP1	55617	broad.mit.edu	37	chr20	13561621	13561621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcaaccgagactgggttCttgattcctataaaaaaaaa	8	7	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr20:13561621C>T	ENST00000337743.4	-	6	531	c.411G>A	c.(409-411)aaG>aaA	p.K137K	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	137					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGACTGGGTTCTTGATTCCta	0.408																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(409-411)aaG>aaA		taspase, threonine aspartase, 1							78	77	77					20																	13561621		2203	4300	6503	SO:0001819	synonymous_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13561621C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.411G>A	20.37:g.13561621C>T						TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	p.K137K	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			6	531	-			137					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	c.411G>A	CCDS13116.1																																																																																				0.408	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		12	129	0	0	0	1	0	12	129					T	13561621	C	T	13561621	2	4	77	1	0	0	0	0	0	0	0	1	15641	912	32	2		2	TASP1	20	13561621	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		13561621	49463899	119	10136											
SAMSN1	64092	broad.mit.edu	37	chr21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-													taccttttcctcagaaagggCtttgatgtactttttaccca							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000400566.1	-	3	343	c.262delG	c.(262-264)gccfs	p.A88fs	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Frame_Shift_Del_p.A156fs	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCAGAAAGGGCTTTGATGTAC	0.318																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(466-468)ccfs		SAM domain, SH3 domain and nuclear localization signals 1							112	99	103					21																	15889230		1801	4065	5866	SO:0001589	frameshift_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889230delC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.262delG	21.37:g.15889230delC	ENSP00000383411:p.Ala88fs					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Frame_Shift_Del_p.A88fs	p.A156fs	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	4	640	-			88					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Frame_Shift_Del	DEL	ENST00000400566.1	37	c.466delG	CCDS42906.1																																																																																				0.318	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			37	170						37	170	---	---	---	---	-	15889230	C	-	15889230	7	5	77	1	0	1	0	1	0	0	0	0	13880	797	28	0	883	0	SAMSN1	21	15889230	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08		15889230	32240665	120	10137											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatataacataatggtgagaCgtagctgggtatgaagcaag	12	4	0	2	rs200135144		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(562-564)Gtc>Atc		keratin associated protein 24-1							130	126	127					21																	31654689		1872	4106	5978	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654689C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile						p.V188I	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	587	-			188					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.562G>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		151	319	0	0	0	1	0	151	319					T	31654689	C	T	31654689	3	4	77	1	0	0	0	0	1	0	0	0	8573	536	19	1	206	1	KRTAP24-1	21	31654689	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	15765459	31654689	16475206	121	10138											
ASCC2	84164	broad.mit.edu	37	chr22	30185169	30185169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgagctgtcatgccGgtacctgagggaggaacaac	14	9	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr22:30185169G>A	ENST00000397771.2	-	21	2284	c.2107C>T	c.(2107-2109)Cgg>Tgg	p.R703W	ASCC2_ENST00000542393.1_Missense_Mutation_p.R627W|ASCC2_ENST00000307790.3_Missense_Mutation_p.R703W			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R703W(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTGTCATGCCGGTACCTGAGG	0.642																																						ENST00000397771.2																			1	Substitution - Missense(1)	p.R703W(1)	endometrium(1)	endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(2107-2109)Cgg>Tgg		activating signal cointegrator 1 complex subunit 2							182	168	172					22																	30185169		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30185169G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2107C>T	22.37:g.30185169G>A	ENSP00000380877:p.Arg703Trp					ASCC2_ENST00000307790.3_Missense_Mutation_p.R703W|ASCC2_ENST00000542393.1_Missense_Mutation_p.R627W	p.R703W			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		21	2284	-			703					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.2107C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282481	0.80692	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.12361	2.69;2.69;2.7	5.89	4.85	0.62838	.	0.113985	0.56097	D	0.000028	T	0.32793	0.0841	L	0.58101	1.795	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.00953	-1.1502	10	0.72032	D	0.01	-23.0336	13.5205	0.61566	0.0:0.0:0.7882:0.2118	.	627;703	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	W	703;703;627	ENSP00000305502:R703W;ENSP00000380877:R703W;ENSP00000437570:R627W	ENSP00000305502:R703W	R	-	1	2	ASCC2	28515169	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.877000	0.48506	2.793000	0.96121	0.561000	0.74099	CGG		0.642	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		6	672	0	0	0	1	0	6	672					A	30185169	G	A	30185169	3	1	77	1	0	0	0	0	1	0	0	0	1033	1115	39	1	170	1	ASCC2	22	30185169	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		30185169	21119397	122	10139											
PLCXD1	55344	broad.mit.edu	37	chrX	215966	215966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacggcttcgtcagtgaCgtcatcgcgctcaatcagaa	11	12	4	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000381663.3_Silent_p.D312D|PLCXD1_ENST00000399012.1_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(934-936)gaC>gaT		phosphatidylinositol-specific phospholipase C, X domain containing 1							89	79	82					X																	215966		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215966C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.936C>T	X.37:g.215966C>T						PLCXD1_ENST00000399012.1_Silent_p.D312D|PLCXD1_ENST00000381663.3_Silent_p.D312D	p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			7	1450	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	312					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.936C>T	CCDS14103.1																																																																																				0.627	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		108	148	0	0	0	1	0	108	148					T	215966	C	T	215966	2	4	77	1	0	0	0	0	0	0	0	1	12083	535	19	1		1	PLCXD1	23	215966	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		215966	155054594	123	10140											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	298	0	0	0	1	0	6	298					G	37028425	A	G	37028425	3	3	77	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	36812459	37028425	118242135	124	10141											
RPGR	6103	broad.mit.edu	37	chrX	38158301	38158301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagtcgccacagataAgcaagtatcatttatttcat	6	8	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:38158301A>G	ENST00000339363.3	-	10	1320	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Silent_p.L385L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Silent_p.L385L			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	385					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACAGATAAGCAAGTATCA	0.448																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1153-1155)Tta>Cta		retinitis pigmentosa GTPase regulator							107	83	91					X																	38158301		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38158301A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1153T>C	X.37:g.38158301A>G						TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Silent_p.L385L|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron	p.L385L	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			10	1329	-			385					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.1153T>C																																																																																					0.448	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		5	100	0	0	0	1	0	5	100					G	38158301	A	G	38158301	2	3	77	1	0	0	0	0	0	0	0	1	13598	69	3	4		4	RPGR	23	38158301	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	1129876	38158301	117112259	125	10142											
KIAA1210	57481	broad.mit.edu	37	chrX	118221146	118221146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtacattcactgggccCtttgatgacatctgtggctg	11	10	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4045-4047)aaG>aaT		KIAA1210							213	203	206					X																	118221146		1956	4136	6092	SO:0001583	missense	57481							g.chrX:118221146C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4047G>T	X.37:g.118221146C>A	ENSP00000384670:p.Lys1349Asn						p.K1349N	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	4046	-			1349					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4047G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.053|4.053	0.007534|0.007534	0.07866|0.07866	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.47|4.47	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.29508	.|0.246	.|B	.|0.23716	.|0.048	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.18276	.|T	.|0.48	.|.	7.1739|7.1739	0.25734|0.25734	0.0:0.1921:0.1243:0.6836|0.0:0.1921:0.1243:0.6836	.|.	.|1349	.|Q9ULL0	.|K1210_HUMAN	W|N	756|1349	.|ENSP00000384670:K1349N	.|ENSP00000384670:K1349N	G|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105174|118105174	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.044000|-0.044000	0.12023|0.12023	-1.290000|-1.290000	0.02372|0.02372	-0.322000|-0.322000	0.08575|0.08575	GGG|AAG		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		75	584	1	0	7.29696e-51	1	7.70235e-51	75	584					A	118221146	C	A	118221146	3	1	77	1	0	0	0	0	1	0	0	0	8244	680	24	3	1098	3	KIAA1210	23	118221146	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	80062845	118221146	37049414	126	10143											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	206	0	0	0	1	0	5	206					A	150156360	G	A	150156360	2	1	77	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	31935214	150156360	5114200	127	10144											
GPR50	9248	broad.mit.edu	37	chrX	150349207	150349207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgaccgtgcctctggCcaccctaagccccattccag	7	21	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	384	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCTGGCCACCCTAAGC	0.587																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1150-1152)ggC>ggT		G protein-coupled receptor 50							93	105	101					X																	150349207		2132	4222	6354	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349207C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1152C>T	X.37:g.150349207C>T							p.G384G	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1221	+	Acute lymphoblastic leukemia(192;6.56e-05)		384			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1152C>T	CCDS44012.1																																																																																				0.587	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	189	0	0	0	1	0	4	189					T	150349207	C	T	150349207	2	4	77	1	0	0	0	0	0	0	0	1	6726	726	26	2		2	GPR50	23	150349207	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	192847	150349207	4921353	128	10145											
VPS13D	55187	broad.mit.edu	37	chr1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggaaaacgacaagcaCggaggagcccaggggaaccc	14	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6280-6282)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							63	59	60					1																	12364627		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364627C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6281C>T	1.37:g.12364627C>T	ENSP00000350854:p.Thr2094Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	p.T2094M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6411	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2094						Missense_Mutation	SNP	ENST00000358136.3	37	c.6281C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.278|3.278	-0.147578|-0.147578	0.06627|0.06627	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.64	5.94|5.94	1.31|1.31	0.21738|0.21738	.|.	.|1.074530	.|0.07029	.|N	.|0.828020	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.002	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.33940	.|T	.|0.23	.|.	8.7283|8.7283	0.34483|0.34483	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|2094;2094	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|M	917|2094	.|ENSP00000348666:T2094M;ENSP00000350854:T2094M	.|ENSP00000348666:T2094M	R|T	+|+	1|2	2|0	VPS13D|VPS13D	12287214|12287214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.256000|0.256000	0.18351|0.18351	0.362000|0.362000	0.24319|0.24319	-0.224000|-0.224000	0.12420|0.12420	CGG|ACG		0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		26	159	0	0	0	1	0	26	159					T	12364627	C	T	12364627	3	4	78	1	0	0	0	0	1	0	0	0	17246	536	19	1	6379	1	VPS13D	1	12364627	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		12364627	236885994	1	10146											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	7	12	5	1	rs200282759	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110	112	112					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		5	217	0	0	0	1	0	5	217					C	12907458	T	C	12907458	3	2	78	1	0	0	0	0	1	0	0	0	7293	1464	51	4	198	4	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	542831	12907458	236343163	2	10147											
RPS6KA1	6195	broad.mit.edu	37	chr1	26885311	26885311	+	Frame_Shift_Del	DEL	C	C	-													cgtacagattccccaggcatCccccccagcgctggggccca							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:26885311delC	ENST00000374168.2	+	14	1252	c.1098delC	c.(1096-1098)atcfs	p.I366fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 hepatic stellate cell activation (GO:2000491)|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)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCAGGCATCCCCCCCAGCG	0.672																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)atfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1							64	63	64					1																	26885311		2203	4300	6503	SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885311delC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1098delC	1.37:g.26885311delC	ENSP00000363283:p.Ile366fs					RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs	p.I366fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	ENST00000374168.2	37	c.1098delC	CCDS284.1																																																																																				0.672	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		8	517						8	517	---	---	---	---	-	26885311	C	-	26885311	7	5	78	1	0	1	0	1	0	0	0	0	13700	845	30	0	1291	0	RPS6KA1	1	26885311	Frame_Shift_Del	DEL	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	13977853	26885311	222365310	3	10148											
FCN3	8547	broad.mit.edu	37	chr1	27697110	27697110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccctctgagaacttgCccagtgccagctggtagtgg	13	12	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27697110C>T	ENST00000270879.4	-	7	640	c.635G>A	c.(634-636)gGc>gAc	p.G212D	FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	212	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGAACTTGCCCAGTGCCAG	0.582																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(634-636)gGc>gAc		ficolin (collagen/fibrinogen domain containing) 3							107	105	106					1																	27697110		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697110C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.635G>A	1.37:g.27697110C>T	ENSP00000270879:p.Gly212Asp					FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	p.G212D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	640	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	212			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.635G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159905	0.78226	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76186	-1.0;-1.0	4.84	2.93	0.34026	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.324971	0.25288	N	0.031759	T	0.81432	0.4821	L	0.56769	1.78	0.25196	N	0.990097	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.70916	-0.4742	10	0.59425	D	0.04	.	10.1394	0.42725	0.0:0.8212:0.0:0.1788	.	201;212	Q6UXM4;O75636	.;FCN3_HUMAN	D	212;201;90	ENSP00000270879:G212D;ENSP00000347077:G201D	ENSP00000270879:G212D	G	-	2	0	FCN3	27569697	0.046000	0.20272	0.975000	0.42487	0.386000	0.30323	0.596000	0.24044	1.198000	0.43158	0.558000	0.71614	GGC		0.582	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			6	436	0	0	0	1	0	6	436					T	27697110	C	T	27697110	3	4	78	1	0	0	0	0	1	0	0	0	5818	739	26	2	272	2	FCN3	1	27697110	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	811799	27697110	221553511	4	10149											
GPR3	2827	broad.mit.edu	37	chr1	27720926	27720926	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcatggtgtttggcatCatgctgcagctctacgccca	9	12	4	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27720926C>T	ENST00000374024.3	+	2	723	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	208					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTTGGCATCATGCTGCAGC	0.577																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(622-624)atC>atT		G protein-coupled receptor 3							214	185	195					1																	27720926		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720926C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.624C>T	1.37:g.27720926C>T							p.I208I	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	723	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	208					A8K570	Silent	SNP	ENST00000374024.3	37	c.624C>T	CCDS303.1																																																																																				0.577	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		14	428	0	0	0	1	0	14	428					T	27720926	C	T	27720926	2	4	78	1	0	0	0	0	0	0	0	1	6715	816	29	2		2	GPR3	1	27720926	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	23816	27720926	221529695	5	10150											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		8	309						8	309	---	---	---	---	-	44447009	AGC	-	44447007	7	5	78	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-HZ-A9TJ-01A-11D-A40W-08	16726081	44447007	204803614	6	10151											
B4GALT2	8704	broad.mit.edu	37	chr1	44455987	44455988	+	Frame_Shift_Ins	INS	-	-	C													aggtttaccaagattcaaaaINScacgaagctgaccatgaagc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44455987_44455988insC	ENST00000356836.6	+	7	1776_1777	c.986_987insC	c.(985-990)aacacgfs	p.T330fs	B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.T330fs|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.T264fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.T359fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	330					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGATTCAAAACACGAAGCTGA	0.465																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(985-987)aacfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455987_44455988insC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.987dupC	1.37:g.44455988_44455988dupC	ENSP00000349293:p.Thr330fs					B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs|B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs	p.N329fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1776_1777	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	329					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Frame_Shift_Ins	INS	ENST00000356836.6	37	c.986_987insC	CCDS506.1																																																																																				0.465	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	1845						7	1845	---	---	---	---	C	44455988	-	C	44455987	7	5	78	1	0	1	1	0	0	0	0	0	1272	43	2	0	1008	0	B4GALT2	1	44455987	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	8980	44455987	204794634	7	10152											
LRRC7	57554	broad.mit.edu	37	chr1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaactgtcaagctctaCgaaaactaagtattcctgat	6	9	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(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						TCAAGCTCTACGAAAACTAAG	0.294																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.R72G(1)	ovary(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						c.(229-231)Cga>Tga		leucine rich repeat containing 7							95	103	100					1																	70257750		2202	4295	6497	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257750C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>T	1.37:g.70257750C>T	ENSP00000035383:p.Arg72*					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*	p.R77*			Q96NW7	LRRC7_HUMAN			5	647	+			72					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.229C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		134	351	0	0	0	1	0	134	351					T	70257750	C	T	70257750	4	4	78	1	0	0	0	0	0	1	0	0	9058	528	19	1	220	1	LRRC7	1	70257750	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	25801763	70257750	178992871	8	10153											
LRRC7	57554	broad.mit.edu	37	chr1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaggagtatggatggatatCcagagcaggtgagaagtgtt	15	3	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000035383.5	+	22	4360	c.4330C>A	c.(4330-4332)Cca>Aca	p.P1444T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1402T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						GGATGGATATCCAGAGCAGGT	0.463																																						ENST00000310961.5																			0				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						c.(4204-4206)Cca>Aca		leucine rich repeat containing 7							60	61	60					1																	70541973		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541973C>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.4330C>A	1.37:g.70541973C>A	ENSP00000035383:p.Pro1444Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T	p.P1402T			Q96NW7	LRRC7_HUMAN			24	4622	+			1444					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4204C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575374	0.65878	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.129386	0.53938	D	0.000049	T	0.20414	0.0491	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.44429	0.787;0.835;0.608	B;P;B	0.47645	0.372;0.553;0.18	T	0.04930	-1.0917	10	0.37606	T	0.19	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	728;1397;1444	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1402;1444;728;1220	ENSP00000309245:P1402T;ENSP00000035383:P1444T;ENSP00000394867:P728T	ENSP00000035383:P1444T	P	+	1	0	LRRC7	70314561	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.176000	0.71955	2.937000	0.99478	0.650000	0.86243	CCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		32	196	1	0	1.55811e-20	1	1.65321e-20	32	196					A	70541973	C	A	70541973	3	1	78	1	0	0	0	0	1	0	0	0	9058	855	30	3	4416	3	LRRC7	1	70541973	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	284223	70541973	178708648	9	10154											
TNNI3K	100526835	broad.mit.edu	37	chr1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgggaaattctcactggcGaaattccattcgctcatctc	8	11	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:74905279G>A	ENST00000370899.3	+	22	2324	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E776K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCTCACTGGCGAAATTCCATT	0.438																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2287-2289)Gaa>Aaa		TNNI3 interacting kinase							135	115	122					1																	74905279		2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905279G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2287G>A	1.37:g.74905279G>A	ENSP00000359936:p.Glu763Lys					TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K	p.E763K	NM_001112808.2	NP_001106279.1					22	2303	+									Missense_Mutation	SNP	ENST00000370899.3	37	c.2287G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077222	0.76415	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.87	4.02	0.46733	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050658	0.85682	N	0.000000	T	0.72566	0.3476	N	0.13098	0.295	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.64877	0.93;0.92;0.885	T	0.72421	-0.4299	10	0.23302	T	0.38	.	12.1528	0.54059	0.1371:0.0:0.8629:0.0	.	662;763;763	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	K	763;763;763;662	ENSP00000359936:E763K;ENSP00000450895:E763K;ENSP00000359928:E763K;ENSP00000322251:E662K	ENSP00000322251:E662K	E	+	1	0	RP11-653A5.2;AC093158.1	74677867	1.000000	0.71417	0.683000	0.30040	0.969000	0.65631	6.146000	0.71777	0.839000	0.34971	0.484000	0.47621	GAA		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			24	469	0	0	0	1	0	24	469					A	74905279	G	A	74905279	3	1	78	1	0	0	0	0	1	0	0	0	16381	1059	37	1	2417	1	TNNI3K	1	74905279	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4363306	74905279	174345342	10	10155											
COL11A1	1301	broad.mit.edu	37	chr1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagacctgggggaccgggaGggccctgcagtgagataaaa	17	8	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000370096.3	-	45	3755	c.3443C>G	c.(3442-3444)cCt>cGt	p.P1148R	COL11A1_ENST00000358392.2_Missense_Mutation_p.P1160R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCGGGAGGGCCCTGCAG	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3478-3480)cCt>cGt		collagen, type XI, alpha 1							30	32	31					1																	103400665		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400665G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3443C>G	1.37:g.103400665G>C	ENSP00000359114:p.Pro1148Arg					COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	p.P1160R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3796	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1148			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3479C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171191	0.57584	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.967;0.999;0.997;0.997	D	0.99935	1.1349	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	1032;1109;1160;1148;368	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1148;1160;1109;368;1032	ENSP00000359114:P1148R;ENSP00000351163:P1160R;ENSP00000302551:P1109R;ENSP00000426533:P1032R	ENSP00000302551:P1109R	P	-	2	0	COL11A1	103173253	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.813000	0.99286	2.588000	0.87417	0.655000	0.94253	CCT		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	112	0	0	0	1	0	14	112					C	103400665	G	C	103400665	3	2	78	1	0	0	0	0	1	0	0	0	3676	1000	35	5	2069	5	COL11A1	1	103400665	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	28495386	103400665	145849956	11	10156											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgttgtgctcctcacActctgaaaaaagacaaagat	9	9	2	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46	49	48					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	454	0	0	0	1	0	7	454					G	144879561	A	G	144879561	3	3	78	1	0	0	0	0	1	0	0	0	11685	159	6	4	3223	4	PDE4DIP	1	144879561	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	41478896	144879561	104371060	12	10157											
BAT2L2	23215	broad.mit.edu	37	chr1	171509737	171509737	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagaaaaggccgaaaaggtCactgaaaaagtagttgtaaa	12	4	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:171509737C>T	ENST00000338920.4	+	16	3363	c.3126C>T	c.(3124-3126)gtC>gtT	p.V1042V	PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000367742.3_Silent_p.V1044V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1042					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCGAAAAGGTCACTGAAAAAG	0.468																																						ENST00000367742.3																			0											c.(3130-3132)gtC>gtT		proline-rich coiled-coil 2C							97	96	97					1																	171509737		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509737C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3126C>T	1.37:g.171509737C>T						PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000338920.4_Silent_p.V1042V	p.V1044V			Q9Y520	PRC2C_HUMAN			16	3374	+			1042					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3132C>T	CCDS1296.2																																																																																				0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		137	178	0	0	0	1	0	137	178					T	171509737	C	T	171509737	2	4	78	1	0	0	0	0	0	0	0	1	1322	813	29	2		2	BAT2L2	1	171509737	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	26630176	171509737	77740884	13	10158											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		9	724						9	724	---	---	---	---	-	183616828	TTC	-	183616826	7	5	78	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-HZ-A9TJ-01A-11D-A40W-08	12107089	183616826	65633795	14	10159											
KDM5B	10765	broad.mit.edu	37	chr1	202699041	202699041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctttttgggggtccGcattttcttaactcgttccc	7	11	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:202699041G>A	ENST00000367265.3	-	26	5455	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1431					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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTGGGGGTCCGCATTTTCTTA	0.463																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4291-4293)Cgg>Tgg		lysine (K)-specific demethylase 5B							174	167	169					1																	202699041		2203	4300	6503	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.chr1:202699041G>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.4291C>T	1.37:g.202699041G>A	ENSP00000356234:p.Arg1431Trp					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	p.R1431W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5455	-			1431					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4291C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458653	0.26248	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86097	-1.95;-1.76;-2.07	5.23	3.33	0.38152	.	0.620786	0.16055	N	0.231797	T	0.78616	0.4311	L	0.44542	1.39	0.34647	D	0.721256	B;B	0.13594	0.008;0.008	B;B	0.08055	0.002;0.003	T	0.76735	-0.2850	10	0.87932	D	0	-11.5036	7.8135	0.29245	0.0786:0.0:0.6182:0.3031	.	1467;1431	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	W	1431;1273;1467;1273	ENSP00000356234:R1431W;ENSP00000356233:R1467W;ENSP00000235790:R1273W	ENSP00000235790:R1273W	R	-	1	2	KDM5B	200965664	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	0.965000	0.29319	0.572000	0.29383	0.650000	0.86243	CGG		0.463	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		8	891	0	0	0	1	0	8	891					A	202699041	G	A	202699041	3	1	78	1	0	0	0	0	1	0	0	0	8164	1086	38	1	351	1	KDM5B	1	202699041	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	19082215	202699041	46551580	15	10160											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR	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	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	887						7	887	---	---	---	---	-	212115193	TGC	-	212115191	7	5	78	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-HZ-A9TJ-01A-11D-A40W-08	9416150	212115191	37135430	16	10161											
CENPF	1063	broad.mit.edu	37	chr1	214815002	214815002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagttggagacagtgcaGcaagctctgagatctgagat	13	7	2	4			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3319-3321)caG>caA		centromere protein F, 350/400kDa							80	82	81					1																	214815002		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815002G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3321G>A	1.37:g.214815002G>A							p.Q1107Q	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3489	+			1107					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.3321G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		5	367	0	0	0	1	0	5	367					A	214815002	G	A	214815002	2	1	78	1	0	0	0	0	0	0	0	1	3240	962	34	2		2	CENPF	1	214815002	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	2699811	214815002	34435619	17	10162											
TP53BP2	7159	broad.mit.edu	37	chr1	223986037	223986037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatattgaacttgctgccaCggtctggggttttctgaagg	12	7	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:223986037C>T	ENST00000343537.7	-	12	2119	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	TP53BP2_ENST00000391878.2_Missense_Mutation_p.V481M|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	604					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTGCTGCCACGGTCTGGGGT	0.527																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1441-1443)Gtg>Atg		tumor protein p53 binding protein, 2							114	119	117					1																	223986037		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986037C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1828G>A	1.37:g.223986037C>T	ENSP00000341957:p.Val610Met					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.V610M	p.V481M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2209	-			604					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1441G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229638	0.79688	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.56941	0.43;0.62	5.88	5.88	0.94601	.	0.055023	0.64402	D	0.000001	T	0.67477	0.2897	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.49	T	0.61352	-0.7080	10	0.33940	T	0.23	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	610;604	B4DG66;Q13625	.;ASPP2_HUMAN	M	481;610	ENSP00000375750:V481M;ENSP00000341957:V610M	ENSP00000341957:V610M	V	-	1	0	TP53BP2	222052660	0.997000	0.39634	0.966000	0.40874	0.972000	0.66771	3.655000	0.54460	2.782000	0.95742	0.655000	0.94253	GTG		0.527	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		30	756	0	0	0	1	0	30	756					T	223986037	C	T	223986037	3	4	78	1	0	0	0	0	1	0	0	0	16437	536	19	1	1604	1	TP53BP2	1	223986037	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9171035	223986037	25264584	18	10163											
OR2M4	26245	broad.mit.edu	37	chr1	248403055	248403055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggacaagatggtgtcGgccttctacactattctcac	9	12	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(823-825)tcG>tcA		olfactory receptor, family 2, subfamily M, member 4							122	105	111					1																	248403055		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403055G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.825G>A	1.37:g.248403055G>A							p.S275S	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	825	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.825G>A	CCDS31108.1																																																																																				0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		54	296	0	0	0	1	0	54	296					A	248403055	G	A	248403055	2	1	78	1	0	0	0	0	0	0	0	1	11054	1103	39	1		1	OR2M4	1	248403055	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	24417018	248403055	847566	19	10164											
SOX11	6664	broad.mit.edu	37	chr2	5833216	5833216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactacaagtaccggccccgGaaaaagcccaaaatggaccc	9	14	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:5833216G>A	ENST00000322002.3	+	1	418	c.363G>A	c.(361-363)cgG>cgA	p.R121R	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	121					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGCCCCGGAAAAAGCCCA	0.692																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(361-363)cgG>cgA		SRY (sex determining region Y)-box 11							17	23	21					2																	5833216		2197	4300	6497	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833216G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.363G>A	2.37:g.5833216G>A							p.R121R	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	418	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		121					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.363G>A	CCDS1654.1																																																																																				0.692	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		4	136	0	0	0	1	0	4	136					A	5833216	G	A	5833216	2	1	78	1	0	0	0	0	0	0	0	1	14992	1161	41	2		2	SOX11	2	5833216	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		5833216	237366157	20	10165											
APOB	338	broad.mit.edu	37	chr2	21228602	21228602	+	Frame_Shift_Del	DEL	T	T	-													agaatgaatagccattggggTttttggtgtacacaaaggca							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:21228602delT	ENST00000233242.1	-	26	11265	c.11138delA	c.(11137-11139)aacfs	p.N3713fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3713					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)			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)					GCCATTGGGGTTTTTGGTGTA	0.398																																						ENST00000233242.1																			0				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						c.(11137-11139)acfs		apolipoprotein B	Atorvastatin(DB01076)						98	95	96					2																	21228602		2203	4300	6503	SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228602delT	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.11138delA	2.37:g.21228602delT	ENSP00000233242:p.Asn3713fs						p.N3713fs	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11265	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3713					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.11138delA	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	691						8	691	---	---	---	---	-	21228602	T	-	21228602	7	5	78	1	0	1	0	1	0	0	0	0	785	1725	60	0	2569	0	APOB	2	21228602	Frame_Shift_Del	DEL	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	15395386	21228602	221970771	21	10166											
OTOF	9381	broad.mit.edu	37	chr2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcctgaccttgaagcGtcccacaatgcgctcctcct	8	17	0	2	rs560665036		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					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)			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)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(4354-4356)Cgc>Tgc		otoferlin							52	48	49					2																	26689975		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.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			36	175	0	0	0	1	0	36	175					A	26689975	G	A	26689975	3	1	78	1	0	0	0	0	1	0	0	0	11345	1145	40	1	1872	1	OTOF	2	26689975	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5461373	26689975	216509398	22	10167											
PLEKHH2	130271	broad.mit.edu	37	chr2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgttcttaaaggtgGtgaattactttactacaaat	9	4	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.			G -> C (in Ref. 1; CAI46132). {ECO:0000305}.	negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2188-2190)gGt>gTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							112	125	121					2																	43937444		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937444G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2189G>T	2.37:g.43937444G>T	ENSP00000282406:p.Gly730Val						p.G730V	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			13	2299	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	730	G -> C (in Ref. 1; CAI46132).		PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2189G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832003	0.71258	.	.	ENSG00000152527	ENST00000282406	T	0.76578	-1.03	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056676	0.64402	D	0.000001	D	0.88429	0.6434	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.999	D	0.90058	0.4154	10	0.87932	D	0	-10.151	15.0911	0.72195	0.0:0.1426:0.8574:0.0	.	730;167;730	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	V	730	ENSP00000282406:G730V	ENSP00000282406:G730V	G	+	2	0	PLEKHH2	43790948	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.354000	0.73036	1.043000	0.40175	0.563000	0.77884	GGT		0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		108	376	1	0	1.15365e-47	1	1.24748e-47	108	376					T	43937444	G	T	43937444	3	4	78	1	0	0	0	0	1	0	0	0	12119	1261	44	3	2235	3	PLEKHH2	2	43937444	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	17247469	43937444	199261929	23	10168											
ABCG8	64241	broad.mit.edu	37	chr2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatggccctggccgccgCggccctgctccccaccttcc	10	20	0	0	rs202028007		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.001		0.0	False		,,,				2504	0.0					ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1648-1650)gCg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8							67	66	66					2																	44102445		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102445C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1649C>T	2.37:g.44102445C>T	ENSP00000272286:p.Ala550Val						p.A550V	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			11	1739	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	550			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1649C>T	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		112	235	0	0	0	1	0	112	235					T	44102445	C	T	44102445	3	4	78	1	0	0	0	0	1	0	0	0	72	768	27	1	1691	1	ABCG8	2	44102445	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	165001	44102445	199096928	24	10169											
PSME4	23198	broad.mit.edu	37	chr2	54133825	54133825	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaccctcaacagttagtgtCcgtagctaagaaaacaatcg	7	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54133825C>T	ENST00000404125.1	-	26	2908	c.2853G>A	c.(2851-2853)cgG>cgA	p.R951R	PSME4_ENST00000421748.2_Silent_p.R95R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	951					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGTTAGTGTCCGTAGCTAAG	0.308																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2851-2853)cgG>cgA		proteasome (prosome, macropain) activator subunit 4							123	122	122					2																	54133825		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133825C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2853G>A	2.37:g.54133825C>T						PSME4_ENST00000421748.2_Silent_p.R95R	p.R951R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		26	2908	-			951					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2853G>A	CCDS33197.2																																																																																				0.308	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		14	370	0	0	0	1	0	14	370					T	54133825	C	T	54133825	2	4	78	1	0	0	0	0	0	0	0	1	12756	842	30	2		2	PSME4	2	54133825	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	10031380	54133825	189065548	25	10170											
CCDC104	112942	broad.mit.edu	37	chr2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-													tttttttttcaggaaatgacAgagaaaccagaaatgacagc					rs373330967		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs			Q96G28	CFA36_HUMAN		313										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(934-939)acagfs		coiled-coil domain containing 104																																				SO:0001589	frameshift_variant	112942							g.chr2:55772051_55772052delAG																												ENST00000349456.4:c.936_937delAG	2.37:g.55772053_55772054delAG	ENSP00000295117:p.Glu313fs					CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs	p.TE312fs			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1084_1085	+			312					Q53SF0|Q53ST9|Q6UY34	Frame_Shift_Del	DEL	ENST00000349456.4	37	c.936_937delAG	CCDS1854.2																																																																																				0.332	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			13	167						13	167	---	---	---	---	-	55772052	AG	-	55772051	7	5	78	1	0	1	0	1	0	0	0	0	2746	175	7	0	974	0	CCDC104	2	55772051	Frame_Shift_Del	DEL	AG	TCGA-HZ-A9TJ-01A-11D-A40W-08	1638226	55772051	187427322	26	10171											
ZNF638	27332	broad.mit.edu	37	chr2	71629120	71629120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgatgcttgtctctaAtttgcctaataaaggatatt	9	5	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71629120A>G	ENST00000409544.1	+	16	3362	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	911	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTGTCTCTAATTTGCCTAAT	0.269																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(2731-2733)aAt>aGt		zinc finger protein 638							84	88	87					2																	71629120		2202	4296	6498	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71629120A>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2732A>G	2.37:g.71629120A>G	ENSP00000386433:p.Asn911Ser					ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S|ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S	p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			16	3362	+			911			RRM 2.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.2732A>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981481	0.53827	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.56275	0.47;1.49;1.49	5.69	5.69	0.88448	.	0.272209	0.41500	D	0.000865	T	0.50769	0.1635	M	0.65975	2.015	0.80722	D	1	B;B;P;B	0.35272	0.361;0.287;0.493;0.361	B;B;B;B	0.33454	0.079;0.085;0.164;0.079	T	0.51132	-0.8744	10	0.33940	T	0.23	-4.9239	13.8977	0.63783	1.0:0.0:0.0:0.0	.	911;911;911;911	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	490;911;911;911	ENSP00000348066:N911S;ENSP00000264447:N911S;ENSP00000386433:N911S	ENSP00000264447:N911S	N	+	2	0	ZNF638	71482628	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.314000	0.65804	2.167000	0.68274	0.477000	0.44152	AAT		0.269	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		13	223	0	0	0	1	0	13	223					G	71629120	A	G	71629120	3	3	78	1	0	0	0	0	1	0	0	0	18108	101	4	4	2790	4	ZNF638	2	71629120	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	15857069	71629120	171570253	27	10172											
CD8B	926	broad.mit.edu	37	chr2	87085345	87085345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctcttcaccgtggaTagtcccttttgcggaatccc	7	15	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:87085345T>G	ENST00000390655.6	-	2	296	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	80	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TCACCGTGGATAGTCCCTTTT	0.552																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Atc>Ctc		CD8b molecule							108	97	101					2																	87085345		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085345T>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.238A>C	2.37:g.87085345T>G	ENSP00000375070:p.Ile80Leu					CD8B_ENST00000331469.2_Missense_Mutation_p.I80L|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron	p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	296	-			80			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.238A>C	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	8.426	0.847470	0.17034	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.35	-6.41	0.01938	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.220850	0.00873	N	0.002047	T	0.41096	0.1144	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.24132	0.016;0.001;0.004;0.002;0.001;0.098	B;B;B;B;B;B	0.15484	0.007;0.003;0.004;0.002;0.003;0.013	T	0.20042	-1.0287	10	0.28530	T	0.3	0.0063	7.5745	0.27928	0.1156:0.284:0.0:0.6004	.	80;80;80;80;80;80	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	L	80	ENSP00000377358:I80L;ENSP00000377356:I80L;ENSP00000340592:I80L;ENSP00000331172:I80L;ENSP00000375070:I80L	ENSP00000331172:I80L	I	-	1	0	CD8B	86938856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.420000	0.02009	-2.142000	0.00338	ATC		0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		48	384	0	0	0	1	0	48	384					G	87085345	T	G	87085345	3	3	78	1	0	0	0	0	1	0	0	0	3054	1406	49	4	688	4	CD8B	2	87085345	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	15456225	87085345	156114028	28	10173											
SLC9A2	6549	broad.mit.edu	37	chr2	103299834	103299835	+	In_Frame_Ins	INS	-	-	ATCTTC													gcagtgtcagcgaaaccttgINSatcttcatcttcatgggtgt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:103299834_103299835insATCTTC	ENST00000233969.2	+	4	1261_1262	c.1119_1120insATCTTC	c.(1120-1122)atc>ATCTTCatc	p.374_374I>IFI		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	374					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCGAAACCTTGATCTTCATCTT	0.485																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1117-1122)tttctt>ttATCTTCtctt		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2																																				SO:0001652	inframe_insertion	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103299834_103299835insATCTTC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1126_1131dupATCTTC	2.37:g.103299835_103299840dupATCTTC	Exception_encountered						p.373_373F>LSS	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			4	1261_1262	+			373					B2RMS2	In_Frame_Ins	INS	ENST00000233969.2	37	c.1119_1120insATCTTC	CCDS2062.1																																																																																				0.485	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			14	415						14	415	---	---	---	---	ATCTTC	103299835	-	ATCTTC	103299834	7	5	78	1	0	1	1	0	0	0	0	0	14762	1281	45	0	1133	0	SLC9A2	2	103299834	In_Frame_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	16214489	103299834	139899539	29	10174											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1089	0	0	0	1	0	7	1089					T	109371685	A	T	109371685	3	4	78	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	6071851	109371685	133827688	30	10175											
ZC3H6	376940	broad.mit.edu	37	chr2	113088959	113088961	+	In_Frame_Del	DEL	GAT	GAT	-													atgtcaaacacaaaagaggcGatgatgatgatgaagataca					rs557004552		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:113088959_113088961delGAT	ENST00000409871.1	+	12	2865_2867	c.2464_2466delGAT	c.(2464-2466)gatdel	p.D825del	ZC3H6_ENST00000343936.4_In_Frame_Del_p.D825del|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	825							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAAAGAGGCGATGATGATGATG	0.429																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2464-2466)del		zinc finger CCCH-type containing 6																																				SO:0001651	inframe_deletion	376940						nucleic acid binding|zinc ion binding	g.chr2:113088959_113088961delGAT	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2464_2466delGAT	2.37:g.113088968_113088970delGAT	ENSP00000386764:p.Asp825del					ZC3H6_ENST00000343936.4_In_Frame_Del_p.D825del	p.D825del	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	2865_2867	+			825					A9JR71|Q6ZW96	In_Frame_Del	DEL	ENST00000409871.1	37	c.2464_2466delGAT	CCDS46393.1																																																																																				0.429	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		7	712						7	712	---	---	---	---	-	113088961	GAT	-	113088959	7	5	78	1	0	1	0	1	0	0	0	0	17624	1058	37	0	2510	0	ZC3H6	2	113088959	In_Frame_Del	DEL	GAT	TCGA-HZ-A9TJ-01A-11D-A40W-08	3717274	113088959	130110414	31	10176											
GLI2	2736	broad.mit.edu	37	chr2	121742187	121742187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgcacctccgcacaccGctgctcaaagagaatgggga	12	13	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:121742187G>A	ENST00000452319.1	+	12	1884	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000314490.11_Silent_p.P280P					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCGCACACCGCTGCTCAAAG	0.652																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1822-1824)ccG>ccA		GLI family zinc finger 2							77	71	73					2																	121742187		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742187G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1824G>A	2.37:g.121742187G>A						GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.P280P	p.P608P			P10070	GLI2_HUMAN			12	1884	+	Renal(3;0.0496)	Prostate(154;0.0623)	608						Silent	SNP	ENST00000452319.1	37	c.1824G>A	CCDS33283.1																																																																																				0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		41	300	0	0	0	1	0	41	300					A	121742187	G	A	121742187	2	1	78	1	0	0	0	0	0	0	0	1	6467	1074	38	1		1	GLI2	2	121742187	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	8653228	121742187	121457186	32	10177											
NCKAP5	344148	broad.mit.edu	37	chr2	133540781	133540781	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatttctttcacccgctgtGatctccatgcttgctggatt	7	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3601-3603)atC>atT		NCK-associated protein 5							85	84	84					2																	133540781		1949	4148	6097	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540781G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3603C>T	2.37:g.133540781G>A						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I	p.I1201I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3976	-			1201					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3603C>T	CCDS46418.1																																																																																				0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		44	224	0	0	0	1	0	44	224					A	133540781	G	A	133540781	2	1	78	1	0	0	0	0	0	0	0	1	10265	1280	45	2		2	NCKAP5	2	133540781	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11798594	133540781	109658592	33	10178											
THSD7B	80731	broad.mit.edu	37	chr2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccttatcattttaggtcGaatgagccggactcgattta	8	10	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1270	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				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)		ATTTTAGGTCGAATGAGCCGG	0.478																																						ENST00000409968.1																			0				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						c.(3802-3804)cGa>cAa		thrombospondin, type I, domain containing 7B							121	118	119					2																	138400061		1894	4125	6019	SO:0001583	missense	80731							g.chr2:138400061G>A			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.3803G>A	2.37:g.138400061G>A	ENSP00000387145:p.Arg1268Gln					THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000543459.1_Intron	p.R1268Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	3981	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3803G>A		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.29	-0.929	0.10444	.	1.100800	0.06637	N	0.760367	T	0.21103	0.0508	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	10.7598	0.46258	0.6294:0.0:0.3706:0.0	.	1240	C9JKN6	.	Q	1268;1271;1240	ENSP00000387145:R1268Q;ENSP00000272643:R1271Q;ENSP00000413841:R1240Q	ENSP00000272643:R1271Q	R	+	2	0	THSD7B	138116531	0.970000	0.33590	0.992000	0.48379	0.992000	0.81027	-0.041000	0.12084	-0.106000	0.12110	-0.258000	0.10820	CGA		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		158	352	0	0	0	1	0	158	352					A	138400061	G	A	138400061	3	1	78	1	0	0	0	0	1	0	0	0	15932	1058	37	1	3793	1	THSD7B	2	138400061	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4859280	138400061	104799312	34	10179											
TTN	7273	broad.mit.edu	37	chr2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcacatagaactgttccCatcttgaaaggcggatgcgc	10	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000591111.1	-	308	99100	c.98876G>A	c.(98875-98877)tGg>tAg	p.W32959*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W34600*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32959					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGTTCCCATCTTGAAAG	0.428																																						ENST00000589042.1																			0				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						c.(103798-103800)tGg>tAg		titin							108	102	104					2																	179397543		1990	4160	6150	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397543C>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.98876G>A	2.37:g.179397543C>T	ENSP00000465570:p.Trp32959*					TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000590807.1_RNA	p.W34600*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104023	-			32959					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103799G>A		.	.	.	.	.	.	.	.	.	.	C	73	115.725762	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6737	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	32032;25535;25727;25660;25532	.	ENSP00000340554:W25727X	W	-	2	0	TTN	179105789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.757000	0.94681	0.462000	0.41574	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	161	0	0	0	1	0	79	161					T	179397543	C	T	179397543	4	4	78	1	0	0	0	0	0	1	0	0	16789	595	21	2	4200	2	TTN	2	179397543	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	40997482	179397543	63801830	35	10180											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A													tatatgtcaaggaggagatgINSaaaaaaaacaacatcccaga							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(847-849)aaafs	p.K283fs	BZW1_ENST00000452790.2_Frame_Shift_Ins_p.K315fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.K287fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	283	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-849)ataaaafs		basic leucine zipper and W2 domains 1			,,,	2,3514		0,2,1756					,,,	5.6	1			76	2,7816		0,2,3907	no	frameshift,frameshift,frameshift,frameshift	BZW1	NM_014670.3,NM_001207069.1,NM_001207068.1,NM_001207067.1	,,,	0,4,5663	A1A1,A1R,RR		0.0256,0.0569,0.0353	,,,	,,,		4,11330				SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504_201683505insA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.854dupA	2.37:g.201683512_201683512dupA	ENSP00000386474:p.Lys283fs					BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs	p.IK282fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301_1302	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Ins	INS	ENST00000409600.1	37	c.846_847insA	CCDS56156.1																																																																																				0.371	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		7	283						7	283	---	---	---	---	A	201683505	-	A	201683504	7	5	78	1	0	1	1	0	0	0	0	0	1582	1290	45	0	876	0	BZW1	2	201683504	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	22285961	201683504	41515869	36	10181											
IRS1	3667	broad.mit.edu	37	chr2	227660886	227660886	+	Frame_Shift_Del	DEL	G	G	-													cagggacagcctcgtgggccGggccaggcggctattggtct							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:227660886delG	ENST00000305123.5	-	1	3589	c.2569delC	c.(2569-2571)cggfs	p.R857fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	857					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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2569-2571)ggfs		insulin receptor substrate 1							32	42	39					2																	227660886		2203	4300	6503	SO:0001589	frameshift_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660886delG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2569delC	2.37:g.227660886delG	ENSP00000304895:p.Arg857fs						p.R857fs	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3589	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	857						Frame_Shift_Del	DEL	ENST00000305123.5	37	c.2569delC	CCDS2463.1																																																																																				0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		48	353						48	353	---	---	---	---	-	227660886	G	-	227660886	7	5	78	1	0	1	0	1	0	0	0	0	7870	1115	39	0	1163	0	IRS1	2	227660886	Frame_Shift_Del	DEL	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	25977382	227660886	15538487	37	10182											
PID1	55022	broad.mit.edu	37	chr2	229890591	229890591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcacgttgtggtcggcGgtgcagtaggcgatgcgggc	20	9	1	0	rs139231184	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:229890591G>A	ENST00000354069.6	-	3	540	c.510C>T	c.(508-510)acC>acT	p.T170T	PID1_ENST00000392055.3_Silent_p.T137T|PID1_ENST00000392054.3_Silent_p.T168T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	170	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGGTCGGCGGTGCAGTAGG	0.582																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(502-504)acC>acT		phosphotyrosine interaction domain containing 1		G	,	1,4405	2.1+/-5.4	0,1,2202	143	130	134		411,504	-11.7	0.1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PID1	NM_001100818.1,NM_017933.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	137/218,168/249	229890591	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890591G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.510C>T	2.37:g.229890591G>A						PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000354069.6_Silent_p.T170T|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.T137T	p.T168T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	843	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	170			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.504C>T																																																																																					0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		5	429	0	0	0	1	0	5	429					A	229890591	G	A	229890591	2	1	78	1	0	0	0	0	0	0	0	1	11924	1103	39	1		1	PID1	2	229890591	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	2229705	229890591	13308782	38	10183											
HES6	55502	broad.mit.edu	37	chr2	239147781	239147785	+	Frame_Shift_Del	DEL	ACGGT	ACGGT	-													ggttcaggagctcggcagcgAcggtagcgtcgatggcctgg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239147781_239147785delACGGT	ENST00000272937.5	-	4	576_580	c.358_362delACCGT	c.(358-363)accgtcfs	p.TV120fs	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409160.3_Frame_Shift_Del_p.YR198fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.PS107fs					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTCGGCAGCGACGGTAGCGTCGATG	0.668																																						ENST00000409160.3																			0				lung(1)|skin(1)	2						c.(592-597)tfs		hes family bHLH transcription factor 6																																				SO:0001589	frameshift_variant	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147781_239147785delACGGT	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"Basic helix-loop-helix proteins"	18254	protein-coding gene	gene with protein product		610331	"hairy and enhancer of split 6 (Drosophila)"			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.358_362delACCGT	2.37:g.239147781_239147785delACGGT	ENSP00000272937:p.Thr120fs					HES6_ENST00000272937.5_Frame_Shift_Del_p.TV120fs|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.LPS109fs	p.YR198fs	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	725_729	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Frame_Shift_Del	DEL	ENST00000272937.5	37	c.593_597delACCGT	CCDS2527.1																																																																																				0.668	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		9	233						9	233	---	---	---	---	-	239147785	ACGGT	-	239147781	7	5	78	1	0	1	0	1	0	0	0	0	7100	275	10	0	316	0	HES6	2	239147781	Frame_Shift_Del	DEL	ACGGT	TCGA-HZ-A9TJ-01A-11D-A40W-08	9257190	239147781	4051592	39	10184											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	11	6	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					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.A86T(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)		TCAGATTTTGCCATCATCAGG	0.383																																						ENST00000254657.3																			1	Substitution - Missense(1)	p.A86T(1)	urinary_tract(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						c.(256-258)Gca>Aca		period circadian clock 2							227	239	235					2																	239185809		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.chr2:239185809C>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.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr					PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	p.A86T	NM_022817.2	NP_073728.1	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)	3	535	-		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)	86					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.256G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		9	1564	0	0	0	1	0	9	1564					T	239185809	C	T	239185809	3	4	78	1	0	0	0	0	1	0	0	0	11772	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	38028	239185809	4013564	40	10185											
KIF1A	547	broad.mit.edu	37	chr2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-													cttccggaaggcccagagcgCcagctcacactcccgctctg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2134-2148)gcg>g		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241700765_241700776delCCAGCTCACACT	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2108_2119delAGTGTGAGCTGG	2.37:g.241700765_241700776delCCAGCTCACACT	ENSP00000322791:p.Glu703_Leu706del					KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del	p.ECELA712del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	24	2381_2392	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	703					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2135_2146delAGTGTGAGCTGG	CCDS46561.1																																																																																				0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		30	169						30	169	---	---	---	---	-	241700776	CCAGCTCACACT	-	241700765	7	5	78	1	0	1	0	1	0	0	0	0	8313	739	26	0	3053	0	KIF1A	2	241700765	In_Frame_Del	DEL	CCAGCTCACACT	TCGA-HZ-A9TJ-01A-11D-A40W-08	2514956	241700765	1498608	41	10186											
FARP2	9855	broad.mit.edu	37	chr2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagaaggaacatacagagTcctgcagactgcagggatgc	13	8	0	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(28-30)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							57	59	58					2																	242312551		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312551T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.29T>A	2.37:g.242312551T>A	ENSP00000264042:p.Val10Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	199	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	10					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.29T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876107	0.33162	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.83591	-1.11;-1.73;-1.74;-0.31;-1.13	5.65	-2.92	0.05615	.	0.515409	0.19294	N	0.117813	T	0.80737	0.4680	L	0.57536	1.79	0.27964	N	0.936655	P;P;P	0.46512	0.879;0.773;0.664	P;P;B	0.48270	0.572;0.572;0.235	T	0.76250	-0.3028	10	0.49607	T	0.09	.	11.2139	0.48815	0.0:0.4967:0.0:0.5033	.	10;10;10	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	10	ENSP00000264042:V10D;ENSP00000443876:V10D;ENSP00000362384:V10D;ENSP00000393376:V10D;ENSP00000388167:V10D	ENSP00000264042:V10D	V	+	2	0	FARP2	241961224	0.907000	0.30839	0.057000	0.19452	0.532000	0.34746	1.218000	0.32467	-0.815000	0.04346	0.460000	0.39030	GTC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			99	177	0	0	0	1	0	99	177					A	242312551	T	A	242312551	3	1	78	1	0	0	0	0	1	0	0	0	5702	1667	58	5	31	5	FARP2	2	242312551	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	611786	242312551	886822	42	10187											
FARP2	9855	broad.mit.edu	37	chr2	242373703	242373703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagccaaaagcaaaagccgTcttcttcagccggggctcct	9	13	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242373703T>A	ENST00000264042.3	+	10	1168	c.998T>A	c.(997-999)gTc>gAc	p.V333D	FARP2_ENST00000373287.4_Missense_Mutation_p.V333D|FARP2_ENST00000545004.1_Missense_Mutation_p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	333					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCAAAAGCCGTCTTCTTCAGC	0.468																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(997-999)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							95	99	98					2																	242373703		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373703T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.998T>A	2.37:g.242373703T>A	ENSP00000264042:p.Val333Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D	p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1168	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	333					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.998T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347971	0.82132	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.066906	0.64402	D	0.000010	D	0.91828	0.7414	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72625	0.978;0.968;0.978	D	0.91344	0.5099	10	0.35671	T	0.21	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	333;333;333	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	333;333;333;20	ENSP00000264042:V333D;ENSP00000443876:V333D;ENSP00000362384:V333D;ENSP00000412772:V20D	ENSP00000264042:V333D	V	+	2	0	FARP2	242022376	1.000000	0.71417	0.158000	0.22627	0.695000	0.40330	6.019000	0.70818	1.956000	0.56807	0.455000	0.32223	GTC		0.468	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			52	302	0	0	0	1	0	52	302					A	242373703	T	A	242373703	3	1	78	1	0	0	0	0	1	0	0	0	5702	1667	58	5	1032	5	FARP2	2	242373703	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	61152	242373703	825670	43	10188											
SLC6A1	6529	broad.mit.edu	37	chr3	11067497	11067497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagatcttcttctcataCgggctgggcctggggtccct	11	14	3	1	rs144034291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	296					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17698	0.0		0.001	False		,,,				2504	0.0					ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(886-888)taC>taT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)	C		1,4405	2.1+/-5.4	0,1,2202	108	110	109		888	-3.3	1	3	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SLC6A1	NM_003042.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		296/600	11067497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067497C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.888C>T	3.37:g.11067497C>T						SLC6A1_ENST00000536032.1_Silent_p.Y118Y	p.Y296Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1309	+		Ovarian(110;0.0392)	296					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.888C>T	CCDS2603.1																																																																																				0.532	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		63	370	0	0	0	1	0	63	370					T	11067497	C	T	11067497	2	4	78	1	0	0	0	0	0	0	0	1	14723	547	19	1		1	SLC6A1	3	11067497	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		11067497	186954933	44	10189											
EXOG	9941	broad.mit.edu	37	chr3	38539118	38539118	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttcatttttAggatctgcagaaaaggctgt	7	4	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:38539118A>T	ENST00000287675.5	+	2	259		c.e2-1		EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like						DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTTCATTTTTAGGATCTGCAG	0.373																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.e2-1		endo/exonuclease (5'-3'), endonuclease G-like							35	36	36					3																	38539118		2203	4298	6501	SO:0001630	splice_region_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38539118A>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.164-1A>T	3.37:g.38539118A>T						EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site		NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			2	259	+								A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Splice_Site	SNP	ENST00000287675.5	37		CCDS2680.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884753	0.51908	.	.	ENSG00000157036	ENST00000287675;ENST00000453767	.	.	.	5.16	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5322	0.50616	0.866:0.0:0.0:0.134	.	.	.	.	.	-1	.	.	.	+	.	.	EXOG	38514122	1.000000	0.71417	0.094000	0.20943	0.430000	0.31655	6.205000	0.72148	0.966000	0.38159	0.460000	0.39030	.		0.373	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	Intron	10	168	0	0	0	1	0	10	168					T	38539118	A	T	38539118	5	4	78	1	0	0	0	0	0	0	1	0	5330	434	15	5	168	5	EXOG	3	38539118	Splice_Site	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	27471621	38539118	159483312	45	10190											
CCR1	1230	broad.mit.edu	37	chr3	46245502	46245502	+	Frame_Shift_Del	DEL	A	A	-													atcttacacatggcatcaccAaaaacccagtcatccttcaa							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:46245502delA	ENST00000296140.3	-	2	428	c.303delT	c.(301-303)tttfs	p.F101fs	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	101					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGGCATCACCAAAAACCCAGT	0.483																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(301-303)ttfs		chemokine (C-C motif) receptor 1							154	150	151					3																	46245502		2203	4300	6503	SO:0001589	frameshift_variant	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245502delA		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.303delT	3.37:g.46245502delA	ENSP00000296140:p.Phe101fs					CCR3_ENST00000357422.2_Intron	p.F101fs	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	428	-			101					Q86VA9	Frame_Shift_Del	DEL	ENST00000296140.3	37	c.303delT	CCDS2737.1																																																																																				0.483	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		7	509						7	509	---	---	---	---	-	46245502	A	-	46245502	7	5	78	1	0	1	0	1	0	0	0	0	2948	127	5	0	768	0	CCR1	3	46245502	Frame_Shift_Del	DEL	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	7706384	46245502	151776928	46	10191											
PLXNB1	5364	broad.mit.edu	37	chr3	48456620	48456620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtccaagggaacatgCcgtctccgggaccacgcgac	15	13	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48456620C>T	ENST00000358536.4	-	20	4200	c.3931G>A	c.(3931-3933)Gca>Aca	p.A1311T	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000465117.1_Splice_Site	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1311	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGAACATGCCGTCTCCGGG	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3931-3933)Gca>Aca		plexin B1							62	62	62					3																	48456620		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456620C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3931G>A	3.37:g.48456620C>T	ENSP00000351338:p.Ala1311Thr					PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_Splice_Site	p.A1311T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	4200	-			1311			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3931G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478634	0.26511	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.14	3.31	0.37934	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	1.568640	0.03917	N	0.282842	T	0.60366	0.2263	N	0.08118	0	0.19575	N	0.999964	B;B	0.23185	0.081;0.005	B;B	0.26693	0.072;0.022	T	0.42085	-0.9472	10	0.12103	T	0.63	.	14.3733	0.66857	0.0:0.693:0.307:0.0	.	1311;1128	O43157;O43157-2	PLXB1_HUMAN;.	T	1311;1128;1311;1128	ENSP00000296440:A1311T;ENSP00000351242:A1128T;ENSP00000351338:A1311T;ENSP00000414199:A1128T	ENSP00000296440:A1311T	A	-	1	0	PLXNB1	48431624	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.403000	0.34612	0.515000	0.28320	0.655000	0.94253	GCA		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		5	191	0	0	0	1	0	5	191					T	48456620	C	T	48456620	3	4	78	1	0	0	0	0	1	0	0	0	12165	739	26	2	2552	2	PLXNB1	3	48456620	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	2211118	48456620	149565810	47	10192											
PFKFB4	5210	broad.mit.edu	37	chr3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcgaactccagtggaTaattatcctgaatttcctcg	10	10	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1030-1032)tAt>tTt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							76	66	69					3																	48563059		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563059T>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1031A>T	3.37:g.48563059T>A	ENSP00000232375:p.Tyr344Phe					PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F	p.Y344F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1143	-			344			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1031A>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822425	0.32237	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.252467	0.41097	D	0.000943	T	0.48960	0.1529	N	0.12663	0.25	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.017	T	0.44787	-0.9305	10	0.37606	T	0.19	-5.5052	7.0254	0.24936	0.2025:0.0:0.0:0.7974	.	333;337;344	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	F	344;333;337;310	ENSP00000232375:Y344F;ENSP00000438908:Y333F;ENSP00000388394:Y337F;ENSP00000437446:Y310F	ENSP00000232375:Y344F	Y	-	2	0	PFKFB4	48538063	0.498000	0.26075	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.844000	0.53588	0.383000	0.25322	TAT		0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		14	141	0	0	0	1	0	14	141					A	48563059	T	A	48563059	3	1	78	1	0	0	0	0	1	0	0	0	11805	1406	49	5	398	5	PFKFB4	3	48563059	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	106439	48563059	149459371	48	10193											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		7	704						7	704	---	---	---	---	-	49321971	TCT	-	49321969	7	5	78	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-HZ-A9TJ-01A-11D-A40W-08	758910	49321969	148700461	49	10194											
UBA7	7318	broad.mit.edu	37	chr3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtcagctgctgaaccAgttctgtcaccctggtaggg	13	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2920-2922)cTg>cAg		ubiquitin-like modifier activating enzyme 7							93	83	86					3																	49842859		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49842859A>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2921T>A	3.37:g.49842859A>T	ENSP00000333266:p.Leu974Gln						p.L974Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	24	3079	-			974					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2921T>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255794	0.59321	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.36	5.36	0.76844	Ubiquitin-activating enzyme e1, C-terminal (1);	0.261023	0.25634	N	0.029323	T	0.72358	0.3450	M	0.80183	2.485	0.45150	D	0.998165	D	0.89917	1.0	D	0.83275	0.996	T	0.76377	-0.2981	10	0.87932	D	0	-1.9099	11.7536	0.51862	1.0:0.0:0.0:0.0	.	974	P41226	UBA7_HUMAN	Q	974	ENSP00000333266:L974Q	ENSP00000333266:L974Q	L	-	2	0	UBA7	49817863	0.105000	0.21958	0.392000	0.26245	0.872000	0.50106	2.681000	0.46926	2.026000	0.59711	0.460000	0.39030	CTG		0.617	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		94	118	0	0	0	1	0	94	118					T	49842859	A	T	49842859	3	4	78	1	0	0	0	0	1	0	0	0	16887	188	7	5	121	5	UBA7	3	49842859	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	520890	49842859	148179571	50	10195											
CADM2	253559	broad.mit.edu	37	chr3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagcacactggacttccGagtggaccggagtgatgatg	14	10	0	2	rs150681488		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000407528.2	+	5	634	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000383699.3_Missense_Mutation_p.R200Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(598-600)cGa>cAa		cell adhesion molecule 2		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100	80	87		572,599,578	4.6	1	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	191/436,200/405,193/438	85961592	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961592G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.572G>A	3.37:g.85961592G>A	ENSP00000384575:p.Arg191Gln					CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q	p.R200Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1226	+		Lung NSC(201;0.0148)	191			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.599G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020020	0.19433	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.5	4.62	0.57501	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.280225	0.38058	N	0.001838	T	0.43411	0.1246	N	0.01874	-0.695	0.32061	N	0.595716	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.49606	-0.8922	10	0.07030	T	0.85	.	3.7449	0.08544	0.2201:0.0:0.5739:0.206	.	193;200;191	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	200;191;193	ENSP00000373200:R200Q;ENSP00000384575:R191Q;ENSP00000384193:R193Q	ENSP00000373200:R200Q	R	+	2	0	CADM2	86044282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.583000	0.87209	0.591000	0.81541	CGA		0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		70	140	0	0	0	1	0	70	140					A	85961592	G	A	85961592	3	1	78	1	0	0	0	0	1	0	0	0	2574	1058	37	1	661	1	CADM2	3	85961592	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	36118733	85961592	112060838	51	10196											
ALCAM	214	broad.mit.edu	37	chr3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatatggaagaaaacaaaAagttagaagaaaacaatcac	7	4	1	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGAAAACAAAAAGTTAGAAGA	0.353																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1717-1719)Aag>Gag		activated leukocyte cell adhesion molecule							72	69	70					3																	105290748		2203	4299	6502	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105290748A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1717A>G	3.37:g.105290748A>G	ENSP00000305988:p.Lys573Glu					ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	p.K573E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			15	2217	+			573					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1717A>G	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.78|18.78	3.696782|3.696782	0.68386|0.68386	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|T	0.58060|0.25579	0.42;0.58;0.36;1.15|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.63880|.	0.993;0.993;0.993|.	D;D;D|.	0.70935|.	0.956;0.956;0.971|.	T|T	0.02282|0.02282	-1.1183|-1.1183	10|8	0.44086|0.29301	T|T	0.13|0.29	-17.4549|-17.4549	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	295;560;573|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	E|R	573;560;522;295|333	ENSP00000305988:K573E;ENSP00000419236:K560E;ENSP00000418213:K522E;ENSP00000374577:K295E|ENSP00000418937:K333R	ENSP00000305988:K573E|ENSP00000418937:K333R	K|K	+|+	1|2	0|0	ALCAM|ALCAM	106773438|106773438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		31	244	0	0	0	1	0	31	244					G	105290748	A	G	105290748	3	3	78	1	0	0	0	0	1	0	0	0	487	15	1	4	1775	4	ALCAM	3	105290748	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	19329156	105290748	92731682	52	10197											
BFSP2	8419	broad.mit.edu	37	chr3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataggtggcttgggtgccCgtgtgacccgccgggccctc	16	14	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(214-216)Cgt>Tgt		beaded filament structural protein 2, phakinin							45	51	49					3																	133119141		2203	4299	6502	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119141C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.214C>T	3.37:g.133119141C>T	ENSP00000304987:p.Arg72Cys						p.R72C	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	303	+			72			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.214C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344701	0.95807	.	.	ENSG00000170819	ENST00000302334	D	0.84223	-1.82	5.95	5.95	0.96441	.	0.205916	0.34507	N	0.003911	D	0.90752	0.7097	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60173	0.87	D	0.88493	0.3077	10	0.35671	T	0.21	-9.7541	20.3789	0.98926	0.0:1.0:0.0:0.0	.	72	Q13515	BFSP2_HUMAN	C	72	ENSP00000304987:R72C	ENSP00000304987:R72C	R	+	1	0	BFSP2	134601831	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	6.977000	0.76141	2.826000	0.97356	0.563000	0.77884	CGT		0.667	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			47	264	0	0	0	1	0	47	264					T	133119141	C	T	133119141	3	4	78	1	0	0	0	0	1	0	0	0	1418	652	23	1	216	1	BFSP2	3	133119141	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	27828393	133119141	64903289	53	10198											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A													tgggcattgctcgagggaagINSaaaaaaaaggggaaagaggt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.49	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		10	496						10	496	---	---	---	---	A	133670083	-	A	133670082	7	5	78	1	0	1	1	0	0	0	0	0	14776	933	33	0	1136	0	SLCO2A1	3	133670082	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	550941	133670082	64352348	54	10199											
SLC9A9	285195	broad.mit.edu	37	chr3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattttcatccaggtccaCgccaactctgttaaacaaaa	5	12	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187	182	183					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		105	526	0	0	0	1	0	105	526					T	143100949	C	T	143100949	3	4	78	1	0	0	0	0	1	0	0	0	14771	536	19	1	476	1	SLC9A9	3	143100949	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9430867	143100949	54921481	55	10200											
FXR1	8087	broad.mit.edu	37	chr3	180666227	180666228	+	Frame_Shift_Ins	INS	-	-	A													tcaatcaaaataaaactgtcINSaaaaaaaataccttctttaa							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:180666227_180666228insA	ENST00000357559.4	+	5	747_748	c.363_364insA	c.(364-366)aaafs	p.K122fs	FXR1_ENST00000445140.2_Frame_Shift_Ins_p.K122fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.K37fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.K73fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.K109fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.K37fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	122					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATAAAACTGTCAAAAAAAATAC	0.332																																						ENST00000357559.4																			1	Deletion - Frameshift(1)	p.N124fs*14(1)	large_intestine(1)	breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(361-366)gtaaaafs		fragile X mental retardation, autosomal homolog 1																																				SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666227_180666228insA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.371dupA	3.37:g.180666235_180666235dupA	ENSP00000350170:p.Lys122fs					FXR1_ENST00000468861.1_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.VK121fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.VK108fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.VK72fs	p.VK121fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	747_748	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		121					A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Ins	INS	ENST00000357559.4	37	c.363_364insA	CCDS3238.1																																																																																				0.332	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			7	297						7	297	---	---	---	---	A	180666228	-	A	180666227	7	5	78	1	0	1	1	0	0	0	0	0	6142	813	29	0	381	0	FXR1	3	180666227	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	37565278	180666227	17356203	56	10201											
MCF2L2	23101	broad.mit.edu	37	chr3	183017842	183017842	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actttcctaaaatgtcccatTttttcttgtttccattgatg	4	9	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183017842T>A	ENST00000328913.3	-	11	1553	c.1256A>T	c.(1255-1257)aAa>aTa	p.K419I	MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	419							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATGTCCCATTTTTTCTTGTT	0.458																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1255-1257)aAa>aTa		MCF.2 cell line derived transforming sequence-like 2							139	130	133					3																	183017842		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183017842T>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1256A>T	3.37:g.183017842T>A	ENSP00000328118:p.Lys419Ile					MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I	p.K419I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		11	1553	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		419					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1256A>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726819	0.48833	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.59	0.741	0.18336	.	0.117224	0.56097	D	0.000033	T	0.47116	0.1428	M	0.82630	2.6	0.32472	N	0.542635	P;D	0.63880	0.904;0.993	P;P	0.57371	0.465;0.819	T	0.58561	-0.7615	10	0.56958	D	0.05	.	8.7236	0.34456	0.0:0.2264:0.0:0.7736	.	419;419	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	I	419;419;419;19;419	ENSP00000328118:K419I;ENSP00000420070:K419I;ENSP00000388190:K419I;ENSP00000414131:K419I	ENSP00000328118:K419I	K	-	2	0	MCF2L2	184500536	0.996000	0.38824	0.541000	0.28102	0.201000	0.24016	2.616000	0.46376	-0.021000	0.14009	-0.290000	0.09829	AAA		0.458	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		28	322	0	0	0	1	0	28	322					A	183017842	T	A	183017842	3	1	78	1	0	0	0	0	1	0	0	0	9421	1841	64	5	2168	5	MCF2L2	3	183017842	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	2351615	183017842	15004588	57	10202											
N4BP2	55728	broad.mit.edu	37	chr4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-													aagaagcttatcggatagggAaaaaaaatgtcgccaccttt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88	88	88					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	363						7	363	---	---	---	---	-	40144449	A	-	40144449	7	5	78	1	0	1	0	1	0	0	0	0	10151	247	9	0	4992	0	N4BP2	4	40144449	Frame_Shift_Del	DEL	A	TCGA-HZ-A9TJ-01A-11D-A40W-08		40144449	151009827	58	10203											
LRBA	987	broad.mit.edu	37	chr4	151738335	151738335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgaggaaaccacactgAcagcattggtaggtatgctt	10	9	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:151738335A>G	ENST00000357115.3	-	31	5489	c.5246T>C	c.(5245-5247)gTc>gCc	p.V1749A	LRBA_ENST00000535741.1_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A|LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1749						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AACCACACTGACAGCATTGGT	0.398																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5245-5247)gTc>gCc		LPS-responsive vesicle trafficking, beach and anchor containing							193	177	183					4																	151738335		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151738335A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5246T>C	4.37:g.151738335A>G	ENSP00000349629:p.Val1749Ala					LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000357115.3_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A	p.V1749A			P50851	LRBA_HUMAN			31	5719	-	all_hematologic(180;0.151)		1749					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5246T>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.384896|4.384896	0.82792|0.82792	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.58060	.|0.77;0.92;0.77;0.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.860939	.|0.10195	.|N	.|0.704143	T|T	0.72875|0.72875	0.3515|0.3515	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	.|P;D	.|0.67145	.|0.745;0.996	.|B;D	.|0.76071	.|0.251;0.987	T|T	0.63184|0.63184	-0.6694|-0.6694	5|10	.|0.27082	.|T	.|0.32	.|.	16.4323|16.4323	0.83853|0.83853	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1749;1749	.|P50851;P50851-2	.|LRBA_HUMAN;.	P|A	402|1749	.|ENSP00000446299:V1749A;ENSP00000421552:V1749A;ENSP00000349629:V1749A;ENSP00000422180:V1749A	.|ENSP00000349629:V1749A	S|V	-|-	1|2	0|0	LRBA|LRBA	151957785|151957785	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.980000|0.980000	0.70556|0.70556	4.766000|4.766000	0.62279|0.62279	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			84	259	0	0	0	1	0	84	259					G	151738335	A	G	151738335	3	3	78	1	0	0	0	0	1	0	0	0	8969	275	10	4	3457	4	LRBA	4	151738335	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	111593886	151738335	39415941	59	10204											
C5orf42	65250	broad.mit.edu	37	chr5	37187926	37187926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatccaacacagagcaCaaagttctctgaagcaacct	7	13	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:37187926C>A	ENST00000508244.1	-	21	3923	c.3830G>T	c.(3829-3831)tGt>tTt	p.C1277F	C5orf42_ENST00000274258.7_Missense_Mutation_p.C158F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1277						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACACAGAGCACAAAGTTCTCT	0.358																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(472-474)tGt>tTt		chromosome 5 open reading frame 42							81	77	78					5																	37187926		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187926C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3830G>T	5.37:g.37187926C>A	ENSP00000421690:p.Cys1277Phe					C5orf42_ENST00000508244.1_Missense_Mutation_p.C1277F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F	p.C158F			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		22	4060	-	all_lung(31;0.000616)		1277					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.473G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644168	0.87859	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.75367	-0.77;-0.77;-0.93;-0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.32530	0.975	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1277;158	E9PH94;Q9H799	.;CE042_HUMAN	F	1277;1277;158;325;158	ENSP00000421690:C1277F;ENSP00000389014:C1277F;ENSP00000274258:C158F;ENSP00000424223:C325F	ENSP00000274258:C158F	C	-	2	0	C5orf42	37223683	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.568000	0.73987	2.749000	0.94314	0.491000	0.48974	TGT		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		9	117	1	0	0.00621372	1	0.00621372	9	117					A	37187926	C	A	37187926	3	1	78	1	0	0	0	0	1	0	0	0	2308	478	17	3	5887	3	C5orf42	5	37187926	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		37187926	143727334	60	10205											
HCN1	348980	broad.mit.edu	37	chr5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccggggaccgccgtcaCgggttgagggatggaggcca	18	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2455-2457)Gtg>Atg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							31	33	32					5																	45262241		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262241C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2455G>A	5.37:g.45262241C>T	ENSP00000307342:p.Val819Met						p.V819M	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2512	-			819						Missense_Mutation	SNP	ENST00000303230.4	37	c.2455G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	102	0	0	0	1	0	9	102					T	45262241	C	T	45262241	3	4	78	1	0	0	0	0	1	0	0	0	7026	536	19	1	221	1	HCN1	5	45262241	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	8074315	45262241	135653019	61	10206											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	938						7	938	---	---	---	---	-	124079815	CTC	-	124079813	7	5	78	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-HZ-A9TJ-01A-11D-A40W-08	78817572	124079813	56835447	62	10207											
SLC12A2	6558	broad.mit.edu	37	chr5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtcattaactggtgggCtgcattgctaacatatgtga	11	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	734					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACTGGTGGGCTGCATTGCTA	0.378																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2200-2202)gCt>gGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						210	200	203					5																	127487026		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127487026C>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2201C>G	5.37:g.127487026C>G	ENSP00000262461:p.Ala734Gly					SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2390	+		all_cancers(142;0.0972)|Prostate(80;0.151)	734					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2201C>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168369	0.78339	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98968	-5.28;-5.28	4.7	4.7	0.59300	Amino acid permease domain (1);	0.124211	0.53938	D	0.000048	D	0.99017	0.9664	M	0.90252	3.1	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.54544	0.641;0.755	D	0.99734	1.1013	10	0.87932	D	0	.	18.2088	0.89864	0.0:1.0:0.0:0.0	.	734;734	P55011-3;P55011	.;S12A2_HUMAN	G	734	ENSP00000262461:A734G;ENSP00000340878:A734G	ENSP00000262461:A734G	A	+	2	0	SLC12A2	127514925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.626000	0.88956	0.655000	0.94253	GCT		0.378	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		54	319	0	0	0	1	0	54	319					G	127487026	C	G	127487026	3	3	78	1	0	0	0	0	1	0	0	0	14433	797	28	5	2255	5	SLC12A2	5	127487026	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	3407213	127487026	53428234	63	10208											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	896	0	0	0	1	0	6	896					A	135390519	G	A	135390519	3	1	78	1	0	0	0	0	1	0	0	0	15872	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	7903493	135390519	45524741	64	10209											
RBM27	54439	broad.mit.edu	37	chr5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaaagcactaacagttgGaggattcattgaggaagaaa	10	7	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2941-2943)gGa>gAa		RNA binding motif protein 27							141	136	138					5																	145651191		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651191G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2942G>A	5.37:g.145651191G>A	ENSP00000265271:p.Gly981Glu					RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	p.G981E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3108	+			981					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2942G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225732	0.39300	.	.	ENSG00000091009	ENST00000265271	T	0.41065	1.01	4.93	3.02	0.34903	.	0.351548	0.27019	N	0.021331	T	0.26048	0.0635	N	0.22421	0.69	0.32293	N	0.566076	B	0.19583	0.037	B	0.13407	0.009	T	0.18935	-1.0321	10	0.30854	T	0.27	-10.6489	10.0237	0.42059	0.0:0.1252:0.635:0.2397	.	981	Q9P2N5	RBM27_HUMAN	E	981	ENSP00000265271:G981E	ENSP00000265271:G981E	G	+	2	0	RBM27	145631384	0.676000	0.27567	1.000000	0.80357	0.993000	0.82548	2.866000	0.48420	2.445000	0.82738	0.650000	0.86243	GGA		0.443	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		31	244	0	0	0	1	0	31	244					A	145651191	G	A	145651191	3	1	78	1	0	0	0	0	1	0	0	0	13177	1174	41	2	3016	2	RBM27	5	145651191	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	10260672	145651191	35264069	65	10210											
GRIA1	2890	broad.mit.edu	37	chr5	153026597	153026597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgtctgcttcattacGccgagctttcccgttgatac	7	15	2	1	rs370782311		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000448073.4_Silent_p.T120T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498																																						ENST00000285900.5																			2	Substitution - coding silent(2)	p.T110T(2)	endometrium(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(328-330)acG>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	,	1,4405		0,1,2202	169	154	159		330,330	-8.9	0	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	110/907,110/907	153026597	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026597G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.330G>A	5.37:g.153026597G>A						GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron	p.T110T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	673	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	110					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.330G>A	CCDS4322.1																																																																																				0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			108	346	0	0	0	1	0	108	346					A	153026597	G	A	153026597	2	1	78	1	0	0	0	0	0	0	0	1	6797	1074	38	1		1	GRIA1	5	153026597	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	7375406	153026597	27888663	66	10211											
DSP	1832	broad.mit.edu	37	chr6	7571743	7571743	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacaagcggaaaatacagtCtcagttcaccgatgcccaga	9	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:7571743C>G	ENST00000379802.3	+	14	2170	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	DSP_ENST00000418664.2_Missense_Mutation_p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	610	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATACAGTCTCAGTTCACC	0.488																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1828-1830)tCt>tGt		desmoplakin							195	180	185					6																	7571743		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571743C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1829C>G	6.37:g.7571743C>G	ENSP00000369129:p.Ser610Cys					DSP_ENST00000418664.2_Missense_Mutation_p.S610C	p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2170	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	610			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1829C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988573	0.53934	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.75050	-0.57;-0.9	5.64	5.64	0.86602	.	0.352625	0.24412	N	0.038749	T	0.51126	0.1656	N	0.14661	0.345	0.35388	D	0.790495	B;B	0.28055	0.199;0.199	B;B	0.26864	0.074;0.074	T	0.58707	-0.7589	10	0.72032	D	0.01	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	657;610	Q4LE79;P15924	.;DESP_HUMAN	C	610;610;415	ENSP00000369129:S610C;ENSP00000396591:S610C	ENSP00000369129:S610C	S	+	2	0	DSP	7516742	0.998000	0.40836	0.964000	0.40570	0.988000	0.76386	3.766000	0.55280	2.664000	0.90586	0.655000	0.94253	TCT		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		41	678	0	0	0	1	0	41	678					G	7571743	C	G	7571743	3	3	78	1	0	0	0	0	1	0	0	0	4797	913	32	5	1883	5	DSP	6	7571743	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		7571743	163543324	67	10212											
HLA-G	3135	broad.mit.edu	37	chr6	29797288	29797288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctaccctgcggagatcaTactgacctggcagcgggatg	12	12	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29797288T>C	ENST00000360323.6	+	4	737	c.713T>C	c.(712-714)aTa>aCa	p.I238T	HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.I238T			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	238	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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCGGAGATCATACTGACCTGG	0.627																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(712-714)aTa>aCa		major histocompatibility complex, class I, G							82	81	81					6																	29797288		2203	4299	6502	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797288T>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.713T>C	6.37:g.29797288T>C	ENSP00000353472:p.Ile238Thr					HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T	p.I238T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	891	+			238			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.713T>C	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.351567	0.00016	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	1.72	0.804	0.18697	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.193030	0.06727	N	0.775921	T	0.00178	0.0005	N	0.00133	-2.03	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.46005	-0.9222	10	0.02654	T	1	.	2.5661	0.04784	0.2786:0.5364:0.0:0.1851	.	243;146;238	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	T	243;238;238;146	ENSP00000366024:I243T;ENSP00000412927:I238T;ENSP00000353472:I238T;ENSP00000366014:I146T	ENSP00000353472:I238T	I	+	2	0	HLA-G	29905267	0.000000	0.05858	0.201000	0.23476	0.157000	0.22087	-0.420000	0.07062	0.070000	0.16634	-0.817000	0.03123	ATA		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		5	706	0	0	0	1	0	5	706					C	29797288	T	C	29797288	3	2	78	1	0	0	0	0	1	0	0	0	7242	1406	49	4	727	4	HLA-G	6	29797288	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	22225545	29797288	141317779	68	10213											
RNF39	80352	broad.mit.edu	37	chr6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgcattaacttttgCcgctttccgcccctctcctg	6	18	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTAACTTTTGCCGCTTTCCGC	0.602																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(76-78)Gca>Aca		ring finger protein 39							51	53	53					6																	30043491		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043491C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.76G>A	6.37:g.30043491C>T	ENSP00000244360:p.Ala26Thr					RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	173	-			26					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.76G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		5	372	0	0	0	1	0	5	372					T	30043491	C	T	30043491	3	4	78	1	0	0	0	0	1	0	0	0	13541	739	26	2	1202	2	RNF39	6	30043491	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	246203	30043491	141071576	69	10214											
COL19A1	1310	broad.mit.edu	37	chr6	70831785	70831785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacagggacctcctggaaTacaaggaatacaccaaactc	7	11	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:70831785T>C	ENST00000322773.4	+	17	1394	c.1292T>C	c.(1291-1293)aTa>aCa	p.I431T	COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	431	Collagen-like 3.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCCTGGAATACAAGGAATA	0.269																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1291-1293)aTa>aCa		collagen, type XIX, alpha 1							66	73	71					6																	70831785		2200	4275	6475	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70831785T>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1292T>C	6.37:g.70831785T>C	ENSP00000316030:p.Ile431Thr					COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	p.I431T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			17	1394	+			431					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1292T>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	9.437	1.087165	0.20390	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;T;T	0.96136	-3.92;1.4;1.4	5.32	1.21	0.21127	.	1.367040	0.04335	N	0.353095	T	0.80602	0.4654	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72475	-0.4282	10	0.10636	T	0.68	.	2.6339	0.04952	0.1426:0.0899:0.1479:0.6195	.	431	Q14993	COJA1_HUMAN	T	431;53;5	ENSP00000316030:I431T;ENSP00000377013:I53T;ENSP00000416556:I5T	ENSP00000316030:I431T	I	+	2	0	COL19A1	70888506	0.027000	0.19231	0.069000	0.20011	0.880000	0.50808	0.635000	0.24629	0.501000	0.28013	0.533000	0.62120	ATA		0.269	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	516	0	0	0	1	0	7	516					C	70831785	T	C	70831785	3	2	78	1	0	0	0	0	1	0	0	0	3685	1406	49	4	1354	4	COL19A1	6	70831785	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	40788294	70831785	100283282	70	10215											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054871	151054871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggttccacatcatcctcGgcctcttcccgcgacagcca	7	18	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:151054871G>A	ENST00000358517.2	+	2	265	c.54G>A	c.(52-54)tcG>tcA	p.S18S	PLEKHG1_ENST00000367328.1_Silent_p.S18S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	18							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		CATCATCCTCGGCCTCTTCCC	0.542																																						ENST00000367328.1																			0				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						c.(52-54)tcG>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							97	97	97					6																	151054871		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151054871G>A	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.54G>A	6.37:g.151054871G>A						PLEKHG1_ENST00000358517.2_Silent_p.S18S	p.S18S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	366	+			18					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.54G>A	CCDS34552.1																																																																																				0.542	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	401	0	0	0	1	0	6	401					A	151054871	G	A	151054871	2	1	78	1	0	0	0	0	0	0	0	1	12110	1103	39	1		1	PLEKHG1	6	151054871	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	80223086	151054871	20060196	71	10216											
TIAM2	26230	broad.mit.edu	37	chr6	155450620	155450620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgcaaggtctccagagGtgttgcctactccacgcaca	9	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:155450620G>A	ENST00000461783.3	+	6	1536	c.263G>A	c.(262-264)gGt>gAt	p.G88D	TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	88					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTCTCCAGAGGTGTTGCCTAC	0.552																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(262-264)gGt>gAt		T-cell lymphoma invasion and metastasis 2							72	65	68					6																	155450620		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450620G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.263G>A	6.37:g.155450620G>A	ENSP00000437188:p.Gly88Asp					TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D	p.G88D			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1536	+		Ovarian(120;0.196)	88					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.263G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198064	0.22037	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06933	3.33;3.24;3.3;3.33;3.32;3.3	5.33	4.46	0.54185	.	0.114029	0.64402	N	0.000011	T	0.03915	0.0110	M	0.62723	1.935	0.80722	D	1	B	0.30021	0.265	B	0.24006	0.05	T	0.15263	-1.0443	10	0.51188	T	0.08	.	7.9497	0.30008	0.0808:0.0:0.7604:0.1588	.	88	Q8IVF5	TIAM2_HUMAN	D	88;334;88;88;88;88;88;88	ENSP00000437188:G88D;ENSP00000434901:G88D;ENSP00000407746:G88D;ENSP00000327315:G88D;ENSP00000353528:G88D;ENSP00000433348:G88D	ENSP00000327315:G88D	G	+	2	0	TIAM2	155492312	0.975000	0.34042	0.131000	0.22000	0.014000	0.08584	2.069000	0.41481	1.230000	0.43646	0.561000	0.74099	GGT		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		14	170	0	0	0	1	0	14	170					A	155450620	G	A	155450620	3	1	78	1	0	0	0	0	1	0	0	0	15943	1261	44	2	265	2	TIAM2	6	155450620	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4395749	155450620	15664447	72	10217											
WTAP	9589	broad.mit.edu	37	chr6	160163179	160163180	+	Splice_Site	INS	-	-	T													aagtacacagatcttaactgINStaagtttgagttttagcttc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:160163179_160163180insT	ENST00000358372.4	+	4	1902		c.e4+1		WTAP_ENST00000337387.4_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATCTTAACTGTAAGTTTGAGT	0.282																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e4+1		Wilms tumor 1 associated protein																																				SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160163179_160163180insT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.145+1->T	6.37:g.160163180_160163180dupT						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site		NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	4	1902	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	INS	ENST00000358372.4	37		CCDS5266.1																																																																																				0.282	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	44	242						44	242	---	---	---	---	T	160163180	-	T	160163179	8	5	78	1	0	1	1	0	0	0	1	0	17463	1391	48	0	156	0	WTAP	6	160163179	Splice_Site	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	4712559	160163179	10951888	73	10218											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	12	17	1	0	rs562134831	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000366827.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		5	100	0	0	0	1	0	5	100					A	167796320	G	A	167796320	2	1	78	1	0	0	0	0	0	0	0	1	15762	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	7633141	167796320	3318747	74	10219											
DNAH11	8701	broad.mit.edu	37	chr7	21599227	21599227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatgtttgtaggccaccGtcaaacgaaaggataatact	8	8	1	0	rs373971291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000409508.3	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000328843.6_Silent_p.P233P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(697-699)ccG>ccA		dynein, axonemal, heavy chain 11		G		0,3650		0,0,1825	60	58	59		699	-3.4	0	7		59	1,8153		0,1,4076	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5901	AA,AG,GG		0.0123,0.0,0.0085		233/4524	21599227	1,11803	1825	4077	5902	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599227G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.699G>A	7.37:g.21599227G>A						DNAH11_ENST00000409508.3_Silent_p.P233P	p.P233P			Q96DT5	DYH11_HUMAN			4	730	+			233			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.699G>A																																																																																					0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	129	0	0	0	1	0	14	129					A	21599227	G	A	21599227	2	1	78	1	0	0	0	0	0	0	0	1	4615	1132	40	1		1	DNAH11	7	21599227	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		21599227	137539436	75	10220											
C7orf16	10842	broad.mit.edu	37	chr7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-													cctgaatgttgagtcagaccAaaaaaaaccaaggaggaaag							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142	138	140		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		10	869						10	869	---	---	---	---	-	31735179	A	-	31735179	7	5	78	1	0	1	0	1	0	0	0	0	2385	130	5	0	185	0	C7orf16	7	31735179	Frame_Shift_Del	DEL	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	10135952	31735179	127403484	76	10221											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	1084	0	0	0	1	0	6	1084					G	72398976	A	G	72398976	3	3	78	1	0	0	0	0	1	0	0	0	12281	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	40663797	72398976	86739687	77	10222											
CCL24	6369	broad.mit.edu	37	chr7	75441265	75441265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgccacagaactgctggCccttcttggtggtgaagctg	14	11	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:75441265C>T	ENST00000416943.1	-	4	302	c.209G>A	c.(208-210)gGc>gAc	p.G70D	CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	70					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GAACTGCTGGCCCTTCTTGGT	0.612																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(208-210)gGc>gAc		chemokine (C-C motif) ligand 24							83	69	74					7																	75441265		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441265C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.209G>A	7.37:g.75441265C>T	ENSP00000400533:p.Gly70Asp					CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	302	-			70					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.209G>A	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091082	0.20471	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.05925	3.37;3.37	4.15	3.26	0.37387	Chemokine interleukin-8-like domain (3);	0.680432	0.13196	N	0.406384	T	0.08670	0.0215	L	0.61036	1.89	0.27743	N	0.944416	B	0.29716	0.255	B	0.30716	0.119	T	0.15235	-1.0444	10	0.36615	T	0.2	.	8.3206	0.32126	0.0:0.8859:0.0:0.1141	.	70	O00175	CCL24_HUMAN	D	70	ENSP00000222902:G70D;ENSP00000400533:G70D	ENSP00000222902:G70D	G	-	2	0	CCL24	75279201	0.659000	0.27411	0.245000	0.24217	0.370000	0.29829	1.945000	0.40273	0.862000	0.35528	0.555000	0.69702	GGC		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		6	255	0	0	0	1	0	6	255					T	75441265	C	T	75441265	3	4	78	1	0	0	0	0	1	0	0	0	2903	739	26	2	152	2	CCL24	7	75441265	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	3042289	75441265	83697398	78	10223											
FZD1	8321	broad.mit.edu	37	chr7	90894600	90894600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaccagaccatcatgccCaacctgctgggccacacgaa	7	16	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:90894600C>T	ENST00000287934.2	+	1	818	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCATGCCCAACCTGCTGG	0.617																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(403-405)ccC>ccT		frizzled family receptor 1							168	144	152					7																	90894600		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894600C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.405C>T	7.37:g.90894600C>T							p.P135P	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	818	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		135			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.405C>T	CCDS5620.1																																																																																				0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		23	522	0	0	0	1	0	23	522					T	90894600	C	T	90894600	2	4	78	1	0	0	0	0	0	0	0	1	6155	581	21	2		2	FZD1	7	90894600	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	15453335	90894600	68244063	79	10224											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			11	402						11	402	---	---	---	---	-	100028825	CCA	-	100028823	7	5	78	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-HZ-A9TJ-01A-11D-A40W-08	9134223	100028823	59109840	80	10225											
MUC17	140453	broad.mit.edu	37	chr7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcatagcaatctcaaCgcctagtgaaggaagcactg	9	11	1	1	rs374713003		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	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)					GCAATCTCAACGCCTAGTGAA	0.473																																						ENST00000306151.4																			0				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						c.(4522-4524)aCg>aTg		mucin 17, cell surface associated		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	209	197	201		4523	-0.1	0	7		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1508/4494	100679220	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679220C>T	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.4523C>T	7.37:g.100679220C>T	ENSP00000302716:p.Thr1508Met						p.T1508M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4587	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1508			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4523C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.330977	0.01298	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.922	-0.0705	0.13747	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.53185	0.72	T	0.45454	-0.9260	9	0.32370	T	0.25	.	4.9293	0.13909	0.0:0.6094:0.3906:0.0	.	1508	Q685J3	MUC17_HUMAN	M	1508	ENSP00000302716:T1508M	ENSP00000302716:T1508M	T	+	2	0	MUC17	100465940	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.062000	0.14389	0.011000	0.14865	-1.865000	0.00557	ACG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		97	1218	0	0	0	1	0	97	1218					T	100679220	C	T	100679220	3	4	78	1	0	0	0	0	1	0	0	0	10015	536	19	1	4533	1	MUC17	7	100679220	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	650397	100679220	58459443	81	10226											
NUP205	23165	broad.mit.edu	37	chr7	135304378	135304378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagtgggttttgcttctAttggagattcttcactttac	8	7	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:135304378A>G	ENST00000285968.6	+	29	4197	c.4171A>G	c.(4171-4173)Att>Gtt	p.I1391V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1391					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCTTCTATTGGAGATTC	0.368																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Att>Gtt		nucleoporin 205kDa							59	59	59					7																	135304378		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304378A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4171A>G	7.37:g.135304378A>G	ENSP00000285968:p.Ile1391Val						p.I1391V	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			29	4197	+			1391					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4171A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410051	0.11812	.	.	ENSG00000155561	ENST00000285968	T	0.29142	1.58	5.67	2.02	0.26589	.	0.133675	0.64402	N	0.000002	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14755	-1.0461	10	0.14656	T	0.56	-22.4023	6.4248	0.21764	0.6149:0.1191:0.266:0.0	.	1391	Q92621	NU205_HUMAN	V	1391	ENSP00000285968:I1391V	ENSP00000285968:I1391V	I	+	1	0	NUP205	134954918	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.161000	0.58170	0.107000	0.17824	0.397000	0.26171	ATT		0.368	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			13	162	0	0	0	1	0	13	162					G	135304378	A	G	135304378	3	3	78	1	0	0	0	0	1	0	0	0	10801	449	16	4	4285	4	NUP205	7	135304378	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	34625158	135304378	23834285	82	10227											
PTPRN2	5799	broad.mit.edu	37	chr7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccggacgccgttctccGcgaggggtgtcagcatgacg	15	13	2	1	rs567734269	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:157370783G>A	ENST00000389418.4	-	18	2555	c.2546C>T	c.(2545-2547)gCg>gTg	p.A849V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A820V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	849	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16184	0.002		0.0	False		,,,				2504	0.0					ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2458-2460)gCg>gTg		protein tyrosine phosphatase, receptor type, N polypeptide 2							85	70	75					7																	157370783		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370783G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2546C>T	7.37:g.157370783G>A	ENSP00000374069:p.Ala849Val					PTPRN2_ENST00000389418.4_Missense_Mutation_p.A849V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	p.A820V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2562	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	849			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2459C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	2.966	-0.213558	0.06140	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.33	5.33	0.75918	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.607774	0.16155	N	0.227082	T	0.48114	0.1482	N	0.00134	-2.025	0.09310	N	1	B;B;B;B;B	0.17667	0.02;0.009;0.003;0.023;0.009	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.002;0.003	T	0.26744	-1.0094	10	0.02654	T	1	.	14.2668	0.66123	0.0732:0.0:0.9268:0.0	.	872;811;820;832;849	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	811;820;832;849;872	ENSP00000387114:A811V;ENSP00000374064:A820V;ENSP00000374067:A832V;ENSP00000374069:A849V;ENSP00000385464:A872V	ENSP00000374064:A820V	A	-	2	0	PTPRN2	157063544	0.929000	0.31497	0.190000	0.23270	0.069000	0.16628	5.203000	0.65174	2.488000	0.83962	0.655000	0.94253	GCG		0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			10	139	0	0	0	1	0	10	139					A	157370783	G	A	157370783	3	1	78	1	0	0	0	0	1	0	0	0	12858	1087	38	1	525	1	PTPRN2	7	157370783	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	22066405	157370783	1767880	83	10228											
DLGAP2	9228	broad.mit.edu	37	chr8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgccatgccgaggcCgacgtcgcaggacctggccg	14	18	0	0	rs373082856		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2578-2580)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2		C	LEU/PRO	0,4008		0,0,2004	23	28	26		2579	4.9	0.1	8		26	2,8302		0,2,4150	no	missense	DLGAP2	NM_004745.3	98	0,2,6154	TT,TC,CC		0.0241,0.0,0.0162	probably-damaging	860/976	1645335	2,12310	2004	4152	6156	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645335C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2579C>T	8.37:g.1645335C>T	ENSP00000400258:p.Pro860Leu						p.P860L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2713	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	939					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2579C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766620|3.766620	0.69878|0.69878	0.0|0.0	2.41E-4|2.41E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22945|.	1.93|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83695|.	0.5310|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.97110|.	1.0;0.976|.	D|.	0.86683|.	0.1918|.	10|.	0.87932|.	D|.	0|.	-12.8537|-12.8537	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;939|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	891;860|863	ENSP00000400258:P860L|.	ENSP00000348366:P891L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1632742|1632742	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.254000|0.254000	0.26022|0.26022	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		13	87	0	0	0	1	0	13	87					T	1645335	C	T	1645335	3	4	78	1	0	0	0	0	1	0	0	0	4576	652	23	1	2617	1	DLGAP2	8	1645335	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		1645335	144718687	84	10229											
RP1	6101	broad.mit.edu	37	chr8	55533656	55533656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcagtttctacaagagcGgagacccccaattcggcggg	12	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:55533656G>A	ENST00000220676.1	+	2	278	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	44	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTACAAGAGCGGAGACCCCCA	0.547																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(130-132)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							106	95	99					8																	55533656		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533656G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.130G>A	8.37:g.55533656G>A	ENSP00000220676:p.Gly44Arg						p.G44R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	278	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	44			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.130G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162331	0.94727	.	.	ENSG00000104237	ENST00000220676	D	0.95272	-3.66	5.44	5.44	0.79542	Doublecortin domain (4);	0.000000	0.56097	D	0.000023	D	0.98182	0.9399	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.87932	D	0	-18.28	19.2628	0.93974	0.0:0.0:1.0:0.0	.	44	P56715	RP1_HUMAN	R	44	ENSP00000220676:G44R	ENSP00000220676:G44R	G	+	1	0	RP1	55696209	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.790000	0.99075	2.545000	0.85829	0.650000	0.86243	GGA		0.547	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		13	287	0	0	0	1	0	13	287					A	55533656	G	A	55533656	3	1	78	1	0	0	0	0	1	0	0	0	13582	1117	39	1	132	1	RP1	8	55533656	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	53888321	55533656	90830366	85	10230											
NECAB1	64168	broad.mit.edu	37	chr8	91929840	91929840	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaactactgaggagCaaacccgtcaagaaaggcaa	10	10	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:91929840C>T	ENST00000417640.2	+	6	815	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383																																						ENST00000417640.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(478-480)Caa>Taa		N-terminal EF-hand calcium binding protein 1							114	112	113					8																	91929840		1860	4099	5959	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929840C>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.478C>T	8.37:g.91929840C>T	ENSP00000387380:p.Gln160*						p.Q160*	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	815	+			160					Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.478C>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.736388	0.98462	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.16	5.16	0.70880	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9093	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000387380:Q160X	Q	+	1	0	NECAB1	91999016	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.953000	0.75995	2.386000	0.81285	0.467000	0.42956	CAA		0.383	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		15	209	0	0	0	1	0	15	209					T	91929840	C	T	91929840	4	4	78	1	0	0	0	0	0	1	0	0	10346	711	25	2	500	2	NECAB1	8	91929840	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	36396184	91929840	54434182	86	10231											
FAM135B	51059	broad.mit.edu	37	chr8	139165088	139165088	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactggggcctgtccatcctCtggacctggactccttctag	10	15	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:139165088C>A	ENST00000395297.1	-	13	1800	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	544										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCATCCTCTGGACCTGGA	0.512										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1630-1632)Gag>Tag		family with sequence similarity 135, member B							79	77	78					8																	139165088		1949	4157	6106	SO:0001587	stop_gained	51059							g.chr8:139165088C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1630G>T	8.37:g.139165088C>A	ENSP00000378710:p.Glu544*	HNSCC(54;0.14)					p.E544*	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1800	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		544					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.1630G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	40	8.288310	0.98745	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.45	4.57	0.56435	.	0.787170	0.12180	N	0.492215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.7828	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	.	.	.	X	544	.	ENSP00000276737:E544X	E	-	1	0	FAM135B	139234270	0.116000	0.22171	0.386000	0.26170	0.934000	0.57294	1.547000	0.36190	1.446000	0.47643	0.655000	0.94253	GAG		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		22	238	1	0	1.2644e-06	1	1.28719e-06	22	238					A	139165088	C	A	139165088	4	1	78	1	0	0	0	0	0	1	0	0	5470	922	32	3	2622	3	FAM135B	8	139165088	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	47235248	139165088	7198934	87	10232											
CDKN2A	1029	broad.mit.edu	37	chr9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A													tcggcctccgaccgtaactaTtcggtgcgttgggcagcgcc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCGTAACTATTCGGTGCGTT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1341	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(124-126)aAt>aTt		cyclin-dependent kinase inhibitor 2A							48	58	55					9																	21974702		2203	4300	6503	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974702T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.125A>T	9.37:g.21974702T>A	ENSP00000307101:p.Asn42Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I	p.N42I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	395	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	42					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.125A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153068	0.78001	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.69435	-0.4;-0.4	4.89	3.73	0.42828	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.84415	0.5467	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.858	D	0.86363	0.1718	9	0.87932	D	0	.	10.4356	0.44433	0.1463:0.0:0.0:0.8537	.	42;42	P42771;G3XAG3	CD2A1_HUMAN;.	I	42	ENSP00000307101:N42I;ENSP00000394932:N42I	ENSP00000307101:N42I	N	-	2	0	CDKN2A	21964702	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	5.683000	0.68189	0.964000	0.38108	-0.327000	0.08410	AAT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		272	168	0	0	0	1	0	272	168					A	21974702	T	A	21974702	3	1	78	1	0	0	0	0	1	0	0	0	3170	1493	52	5	558	5	CDKN2A	9	21974702	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08		21974702	119238729	88	10233	66	2									
CDKN2A	1029	broad.mit.edu	37	chr9	21974704	21974704	+	Silent	SNP	C	C	A													ggcctccgaccgtaactattCggtgcgttgggcagcgcccc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000579122.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGTAACTATTCGGTGCGTTGG	0.697		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(121-123)ccG>ccT		cyclin-dependent kinase inhibitor 2A							46	56	52					9																	21974704		2202	4300	6502	SO:0001819	synonymous_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974704C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.123G>T	9.37:g.21974704C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000446177.1_Silent_p.P41P	p.P41P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	393	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	41					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.123G>T	CCDS6510.1																																																																																				0.697	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		260	158	1	0	3.24227e-129	1	3.53987e-129	260	158					A	21974704	C	A	21974704	2	1	78	1	0	0	0	0	0	0	0	1	3170	871	31	3		3	CDKN2A	9	21974704	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	2	21974704	119238727	89	10234	66	2									
COL15A1	1306	broad.mit.edu	37	chr9	101802811	101802811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgtcacaggggccggaCgggttgcctgggctgccagg	20	10	1	0	rs146647282	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2482-2484)gaC>gaT		collagen, type XV, alpha 1		C		0,4406		0,0,2203	179	155	163		2484	-5.3	0	9	dbSNP_134	163	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	COL15A1	NM_001855.3		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		828/1389	101802811	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101802811C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2484C>T	9.37:g.101802811C>T							p.D828D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			23	2907	+		Acute lymphoblastic leukemia(62;0.0562)	828			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2484C>T	CCDS35081.1																																																																																				0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		167	143	0	0	0	1	0	167	143					T	101802811	C	T	101802811	2	4	78	1	0	0	0	0	0	0	0	1	3681	535	19	1		1	COL15A1	9	101802811	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	79828107	101802811	39410620	90	10235											
ASTN2	23245	broad.mit.edu	37	chr9	119976795	119976795	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatccaggatgggagtcTcccggatgggcacgccaatg	14	11	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976795T>A	ENST00000313400.4	-	3	957	c.857A>T	c.(856-858)gAg>gTg	p.E286V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V			O75129	ASTN2_HUMAN	astrotactin 2	286					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATGGGAGTCTCCCGGATGGG	0.617																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(856-858)gAg>gTg		astrotactin 2							83	78	80					9																	119976795		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976795T>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.857A>T	9.37:g.119976795T>A	ENSP00000314038:p.Glu286Val					ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V	p.E286V			O75129	ASTN2_HUMAN			3	957	-			286					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.857A>T		.	.	.	.	.	.	.	.	.	.	T	17.28	3.349878	0.61183	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.22743	2.09;2.08;2.13;1.94	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.31544	0.0800	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.991;0.96	T	0.05616	-1.0874	9	.	.	.	-22.8697	14.6696	0.68934	0.0:0.0:0.0:1.0	.	286;286;286	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	286;286;13;286	ENSP00000314038:E286V;ENSP00000363108:E286V;ENSP00000363098:E13V;ENSP00000354504:E286V	.	E	-	2	0	ASTN2	119016616	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.662000	0.83803	1.935000	0.56089	0.533000	0.62120	GAG		0.617	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		17	208	0	0	0	1	0	17	208					A	119976795	T	A	119976795	3	1	78	1	0	0	0	0	1	0	0	0	1066	1551	54	5	3321	5	ASTN2	9	119976795	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	18173984	119976795	21236636	91	10236											
GPR21	2844	broad.mit.edu	37	chr9	125797611	125797611	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctatgccatggtcctgtttCgaatcactagtgtattttac	8	9	1	0	rs370055199		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:125797611C>T	ENST00000373642.1	+	1	806	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	256					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGTCCTGTTTCGAATCACTAG	0.507																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(766-768)Cga>Tga		G protein-coupled receptor 21		C	stop/ARG,	0,4406		0,0,2203	180	158	165		766,	5	1	9		165	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,intron	GPR21,RABGAP1	NM_005294.1,NM_012197.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	256/350,	125797611	1,13005	2203	4300	6503	SO:0001587	stop_gained	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797611C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.766C>T	9.37:g.125797611C>T	ENSP00000362746:p.Arg256*					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	p.R256*	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	806	+			256					B2R8W9|Q6NXU2	Nonsense_Mutation	SNP	ENST00000373642.1	37	c.766C>T	CCDS6849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225223|4.225223	0.79576|0.79576	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188394|ENSG00000188394	ENST00000373642|ENST00000412269	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	U|.	0.000006|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61456	.|-0.7059	.|5	0.30854|0.19590	T|T	0.27|0.45	-4.8434|-4.8434	16.7619|16.7619	0.85514|0.85514	0.1297:0.8703:0.0:0.0|0.1297:0.8703:0.0:0.0	.|.	.|.	.|.	.|.	X|L	256|248	.|.	ENSP00000362746:R256X|ENSP00000389239:S248L	R|S	+|+	1|2	2|0	GPR21|GPR21	124837432|124837432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.714000|3.714000	0.54889|0.54889	1.491000|1.491000	0.48482|0.48482	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		33	557	0	0	0	1	0	33	557					T	125797611	C	T	125797611	4	4	78	1	0	0	0	0	0	1	0	0	6710	876	31	1	768	1	GPR21	9	125797611	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	5820816	125797611	15415820	92	10237											
NTNG2	84628	broad.mit.edu	37	chr9	135102349	135102349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgcaagaagaatttccGcacccggtcctggcgggccg	13	13	0	2	rs557724992		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135102349G>A	ENST00000393229.3	+	4	1747	c.971G>A	c.(970-972)cGc>cAc	p.R324H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	324	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGAATTTCCGCACCCGGTCC	0.677																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(970-972)cGc>cAc		netrin G2							40	37	38					9																	135102349		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102349G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.971G>A	9.37:g.135102349G>A	ENSP00000376921:p.Arg324His					NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1747	+			324			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.971G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.75	4.75	0.60458	EGF-like, laminin (3);	0.249770	0.32852	N	0.005578	T	0.25975	0.0633	N	0.01473	-0.845	0.42692	D	0.99358	P	0.50066	0.931	B	0.36608	0.229	T	0.34329	-0.9833	10	0.10636	T	0.68	.	16.7144	0.85394	0.0:0.0:1.0:0.0	.	324	Q96CW9	NTNG2_HUMAN	H	324	ENSP00000376921:R324H;ENSP00000376920:R324H;ENSP00000353888:R324H;ENSP00000361252:R324H	ENSP00000353888:R324H	R	+	2	0	NTNG2	134092170	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.158000	0.77470	2.184000	0.69523	0.313000	0.20887	CGC		0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		15	90	0	0	0	1	0	15	90					A	135102349	G	A	135102349	3	1	78	1	0	0	0	0	1	0	0	0	10747	1087	38	1	981	1	NTNG2	9	135102349	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	9304738	135102349	6111082	93	10238											
CUBN	8029	broad.mit.edu	37	chr10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggttgccaaatGccttgtgatagtctctgttg	11	9	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10204-10206)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						131	118	123					10																	16877170		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877170G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10205C>T	10.37:g.16877170G>A	ENSP00000367064:p.Ala3402Val						p.A3402V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10270	-			3402			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10205C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493742	0.12702	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19105	2.17	4.84	2.92	0.33932	CUB (5);	0.738516	0.11552	N	0.552718	T	0.24236	0.0587	L	0.47716	1.5	0.24037	N	0.996099	P	0.40360	0.714	B	0.43990	0.438	T	0.10291	-1.0636	10	0.30854	T	0.27	.	11.3802	0.49752	0.0:0.1371:0.7202:0.1427	.	3402	O60494	CUBN_HUMAN	V	3402;243	ENSP00000367064:A3402V	ENSP00000367064:A3402V	A	-	2	0	CUBN	16917176	0.660000	0.27420	0.004000	0.12327	0.008000	0.06430	2.533000	0.45667	0.593000	0.29745	-0.314000	0.08810	GCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		43	324	0	0	0	1	0	43	324					A	16877170	G	A	16877170	3	1	78	1	0	0	0	0	1	0	0	0	4062	1319	46	2	682	2	CUBN	10	16877170	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		16877170	118657577	94	10239											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629414	1629414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagcccccacaagagcCacagacccccttggagcccc	8	20	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:1629414C>T	ENST00000399685.1	-	1	279	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	68	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAAGAGCCACAGACCCCC	0.667																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(202-204)Ggc>Agc		keratin associated protein 5-3							56	75	69					11																	1629414		2192	4296	6488	SO:0001583	missense	387266					keratin filament		g.chr11:1629414C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.202G>A	11.37:g.1629414C>T	ENSP00000382592:p.Gly68Ser						p.G68S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	279	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.202G>A	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519678	0.00967	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	3.39	3.39	0.38822	.	.	.	.	.	T	0.03564	0.0102	M	0.66439	2.03	0.20975	N	0.999817	P	0.46142	0.873	P	0.46452	0.517	T	0.17653	-1.0362	9	0.06757	T	0.87	.	12.6532	0.56774	0.0:1.0:0.0:0.0	.	68	Q6L8H2	KRA53_HUMAN	S	68	ENSP00000382592:G68S	ENSP00000382592:G68S	G	-	1	0	KRTAP5-3	1585990	0.942000	0.31987	0.997000	0.53966	0.006000	0.05464	0.591000	0.23969	1.616000	0.50265	0.289000	0.19496	GGC		0.667	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			30	435	0	0	0	1	0	30	435					T	1629414	C	T	1629414	3	4	78	1	0	0	0	0	1	0	0	0	8593	594	21	2	518	2	KRTAP5-3	11	1629414	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		1629414	133377102	95	10240											
OSBPL5	114879	broad.mit.edu	37	chr11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccagggcgtccagcCagcagcgacctgcggggcac	14	17	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(700-702)tGg>tAg		oxysterol binding protein-like 5							28	34	32					11																	3129166		2201	4294	6495	SO:0001587	stop_gained	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3129166C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.701G>A	11.37:g.3129166C>T	ENSP00000263650:p.Trp234*					OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*	p.W234*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	860	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	234			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Nonsense_Mutation	SNP	ENST00000263650.7	37	c.701G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989428	0.74589	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0922	16.7016	0.85350	0.0:1.0:0.0:0.0	.	.	.	.	X	234;166;145;166	.	ENSP00000263650:W234X	W	-	2	0	OSBPL5	3085742	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.116000	0.77119	2.156000	0.67533	0.455000	0.32223	TGG		0.697	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			43	58	0	0	0	1	0	43	58					T	3129166	C	T	3129166	4	4	78	1	0	0	0	0	0	1	0	0	11322	595	21	2	1998	2	OSBPL5	11	3129166	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	1499752	3129166	131877350	96	10241											
NELL1	4745	broad.mit.edu	37	chr11	21556023	21556023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaagcggtttccatgaCgatgggacctattcactgtc	11	10	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000357134.5	+	16	1901	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NELL1_ENST00000298925.5_Silent_p.D611D|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1831-1833)gaC>gaT		NEL-like 1 (chicken)							183	149	161					11																	21556023		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556023C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1749C>T	11.37:g.21556023C>T						NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.D583D|NELL1_ENST00000325319.5_Silent_p.D526D	p.D611D			Q92832	NELL1_HUMAN			17	1986	+			583			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1833C>T	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		63	261	0	0	0	1	0	63	261					T	21556023	C	T	21556023	2	4	78	1	0	0	0	0	0	0	0	1	10375	535	19	1		1	NELL1	11	21556023	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	18426857	21556023	113450493	97	10242											
PRR5L	79899	broad.mit.edu	37	chr11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaactggaggagctggTgaagcaagtggtttctcctt	13	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(640-642)gTg>gAg		proline rich 5 like							188	158	168					11																	36472814		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36472814T>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.641T>A	11.37:g.36472814T>A	ENSP00000368144:p.Val214Glu					PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron	p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	996	+			214					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.641T>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144704	0.77888	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.35973	1.41;1.28;1.41	5.16	4.02	0.46733	.	0.070757	0.56097	D	0.000027	T	0.51652	0.1687	M	0.72894	2.215	0.53688	D	0.999979	D;D	0.71674	0.99;0.998	P;P	0.58266	0.836;0.759	T	0.54166	-0.8334	10	0.87932	D	0	-8.0315	10.571	0.45200	0.0:0.0773:0.0:0.9227	.	86;214	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	E	214;141;214	ENSP00000435050:V214E;ENSP00000310103:V141E;ENSP00000368144:V214E	ENSP00000310103:V141E	V	+	2	0	PRR5L	36429390	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.302000	0.59092	0.810000	0.34279	0.260000	0.18958	GTG		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		69	294	0	0	0	1	0	69	294					A	36472814	T	A	36472814	3	1	78	1	0	0	0	0	1	0	0	0	12649	1696	59	5	673	5	PRR5L	11	36472814	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	14916791	36472814	98533702	98	10243											
RAG1	5896	broad.mit.edu	37	chr11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatccatcaagccaaccttCgacatctctgccgcatctgt	6	16	3	0	rs193922464		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(322-324)Cga>Tga		recombination activating gene 1		C	stop/ARG	0,4404		0,0,2202	109	104	106		322	3.2	0.7	11		106	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	RAG1	NM_000448.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		108/1044	36595176	1,12999	2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595176C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.322C>T	11.37:g.36595176C>T	ENSP00000299440:p.Arg108*						p.R108*	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	434	+	all_lung(20;0.226)	all_hematologic(20;0.107)	108			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.322C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280336	0.59758	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	6.14	3.2	0.36748	.	0.352416	0.29522	N	0.011917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0601	0.42270	0.3752:0.5616:0.0:0.0632	.	.	.	.	X	108	.	ENSP00000299440:R108X	R	+	1	2	RAG1	36551752	.	.	0.743000	0.31040	0.340000	0.28889	.	.	0.439000	0.26476	-0.156000	0.13503	CGA		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		146	224	0	0	0	1	0	146	224					T	36595176	C	T	36595176	4	4	78	1	0	0	0	0	0	1	0	0	13053	876	31	1	324	1	RAG1	11	36595176	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	122362	36595176	98411340	99	10244											
FOLH1	2346	broad.mit.edu	37	chr11	49221961	49221961	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagctgaaagttttgttctGttcctgctaaatgtggtatc	9	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49221961G>C	ENST00000256999.2	-	3	517	c.257C>G	c.(256-258)aCa>aGa	p.T86R	FOLH1_ENST00000340334.7_Missense_Mutation_p.T71R|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	86					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTTTGTTCTGTTCCTGCTAA	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(211-213)aCa>aGa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						73	74	74					11																	49221961		2201	4296	6497	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49221961G>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.257C>G	11.37:g.49221961G>C	ENSP00000256999:p.Thr86Arg					FOLH1_ENST00000256999.2_Missense_Mutation_p.T86R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R	p.T71R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			4	580	-			86					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.212C>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161035	0.78226	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000031	T	0.73606	0.3608	M	0.90019	3.08	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.943;0.997;0.997	D;D;P;D;D	0.97110	1.0;1.0;0.791;0.964;0.962	T	0.78499	-0.2180	10	0.52906	T	0.07	.	15.3468	0.74343	0.0:0.0:1.0:0.0	.	71;71;71;86;86	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	R	86;86;71;71;86;29	ENSP00000256999:T86R;ENSP00000349129:T86R;ENSP00000344131:T71R;ENSP00000431463:T71R;ENSP00000431577:T29R	ENSP00000256999:T86R	T	-	2	0	FOLH1	49178537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.854000	0.75440	2.496000	0.84212	0.508000	0.49915	ACA		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		8	156	0	0	0	1	0	8	156					C	49221961	G	C	49221961	3	2	78	1	0	0	0	0	1	0	0	0	6004	1377	48	5	2063	5	FOLH1	11	49221961	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	12626785	49221961	85784555	100	10245											
OR4C13	283092	broad.mit.edu	37	chr11	49974001	49974001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagaaacaatgtgacagaGtttattctattggggcttac	9	5	1	3	rs148894043	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(25-27)gaG>gaA		olfactory receptor, family 4, subfamily C, member 13							92	93	93					11																	49974001		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974001G>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.27G>A	11.37:g.49974001G>A							p.E9E	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	59	+			9					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.27G>A	CCDS31495.1																																																																																				0.299	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		92	356	0	0	0	1	0	92	356					A	49974001	G	A	49974001	2	1	78	1	0	0	0	0	0	0	0	1	11089	1020	36	2		2	OR4C13	11	49974001	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	752040	49974001	85032515	101	10246											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	506						12	506	---	---	---	---	-	77069992	CAT	-	77069990	7	5	78	1	0	1	0	1	0	0	0	0	11441	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-HZ-A9TJ-01A-11D-A40W-08	27095989	77069990	57936526	102	10247											
KCNA1	3736	broad.mit.edu	37	chr12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctctactatgagcaagtCtgagtacatggagatcgaag	10	8	2	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1354-1356)tCt>tAt		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						200	195	196					12																	5021899		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021899C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1355C>A	12.37:g.5021899C>A	ENSP00000371985:p.Ser452Tyr					KCNA1_ENST00000543874.2_Intron	p.S452Y	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2462	+			452	S -> Y (in Ref. 1; AAA36139).				A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1355C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790696	0.70452	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96716	-4.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87269	2.87	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.98623	1.0668	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	452	Q09470	KCNA1_HUMAN	Y	452	ENSP00000371985:S452Y	ENSP00000228858:S452Y	S	+	2	0	KCNA1	4892160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	TCT		0.483	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		160	1029	1	0	6.34276e-37	1	6.82602e-37	160	1029					A	5021899	C	A	5021899	3	1	78	1	0	0	0	0	1	0	0	0	8031	913	32	3	1357	3	KCNA1	12	5021899	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		5021899	128829996	103	10248											
PDE3A	5139	broad.mit.edu	37	chr12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagagtgcctgagagagcCtctgaggaaagcatcggctt	13	9	1	4			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					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)			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)	CTGAGAGAGCCTCTGAGGAAA	0.443																																						ENST00000359062.3																			0				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						c.(1945-1947)cCt>cAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						140	119	126					12																	20787935		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.chr12:20787935C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1946C>A	12.37:g.20787935C>A	ENSP00000351957:p.Pro649His					PDE3A_ENST00000544307.1_3'UTR	p.P649H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			8	1986	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	649					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1946C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078860	0.08533	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.64	3.77	0.43336	.	7739.210000	0.00166	N	0.000000	T	0.51227	0.1662	N	0.22421	0.69	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.53114	-0.8484	10	0.52906	T	0.07	.	14.0504	0.64732	0.454:0.546:0.0:0.0	.	649	Q14432	PDE3A_HUMAN	H	649	ENSP00000351957:P649H	ENSP00000351957:P649H	P	+	2	0	PDE3A	20679202	0.242000	0.23868	0.016000	0.15963	0.040000	0.13550	0.863000	0.27913	0.699000	0.31761	-0.175000	0.13238	CCT		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			29	279	1	0	1.75199e-13	1	1.84162e-13	29	279					A	20787935	C	A	20787935	3	1	78	1	0	0	0	0	1	0	0	0	11679	681	24	3	1976	3	PDE3A	12	20787935	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	15766036	20787935	113063960	104	10249											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		63	189	1	0	5.80444e-35	1	6.21707e-35	63	189					A	25398284	C	A	25398284	3	1	78	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	4610349	25398284	108453611	105	10250											
PKP2	5318	broad.mit.edu	37	chr12	33031332	33031332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtaatcgctgtgcgtgTagtgagccctctccgggctg	14	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:33031332T>C	ENST00000070846.6	-	3	506	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PKP2_ENST00000340811.4_Missense_Mutation_p.Y161C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	161					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTGTGCGTGTAGTGAGCCCT	0.592																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(481-483)tAc>tGc		plakophilin 2							108	107	108					12																	33031332		2203	4297	6500	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031332T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.482A>G	12.37:g.33031332T>C	ENSP00000070846:p.Tyr161Cys					PKP2_ENST00000070846.6_Missense_Mutation_p.Y161C	p.Y161C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	590	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		161					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.482A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522175	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.86030	-2.05;-2.06	4.98	4.98	0.66077	.	0.558681	0.16641	N	0.205627	D	0.89403	0.6705	L	0.59436	1.845	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.956;0.972	T	0.81169	-0.1055	10	0.59425	D	0.04	-5.6232	9.1145	0.36748	0.1628:0.0:0.0:0.8372	.	161;161;161	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	161	ENSP00000342800:Y161C;ENSP00000070846:Y161C	ENSP00000070846:Y161C	Y	-	2	0	PKP2	32922599	0.061000	0.20836	0.007000	0.13788	0.021000	0.10359	2.011000	0.40922	1.865000	0.54081	0.529000	0.55759	TAC		0.592	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		34	795	0	0	0	1	0	34	795					C	33031332	T	C	33031332	3	2	78	1	0	0	0	0	1	0	0	0	12027	1638	57	4	2211	4	PKP2	12	33031332	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	7633048	33031332	100820563	106	10251											
TMEM117	84216	broad.mit.edu	37	chr12	44782272	44782272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcgagaaaacacccaGgcttcagtagaagacccctt	7	13	2	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:44782272G>T	ENST00000266534.3	+	8	1489	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	454						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAAACACCCAGGCTTCAGTAG	0.443																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1360-1362)caG>caT		transmembrane protein 117							141	138	139					12																	44782272		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782272G>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1362G>T	12.37:g.44782272G>T	ENSP00000266534:p.Gln454His					TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR	p.Q454H	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1489	+	Lung SC(27;0.192)		454						Missense_Mutation	SNP	ENST00000266534.3	37	c.1362G>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087281	0.36855	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.46819	0.86	5.73	2.5	0.30297	.	0.052666	0.85682	D	0.000000	T	0.38081	0.1027	L	0.41236	1.265	0.39169	D	0.962561	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.33007	-0.9885	10	0.48119	T	0.1	-10.3341	12.0236	0.53358	0.2193:0.0:0.7807:0.0	.	350;454	F5H3Q2;Q9H0C3	.;TM117_HUMAN	H	454;350;202	ENSP00000266534:Q454H	ENSP00000266534:Q454H	Q	+	3	2	TMEM117	43068539	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	1.298000	0.33412	0.774000	0.33427	-0.142000	0.14014	CAG		0.443	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		14	384	1	0	8.60227e-14	1	9.08464e-14	14	384					T	44782272	G	T	44782272	3	4	78	1	0	0	0	0	1	0	0	0	16083	991	35	3	1388	3	TMEM117	12	44782272	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11750940	44782272	89069623	107	10252											
FMNL3	91010	broad.mit.edu	37	chr12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatctcctcagccgagcGgccagccttgcgtagggtga	14	13	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000293590.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000335154.5_Missense_Mutation_p.R656C			Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1966-1968)Cgc>Tgc		formin-like 3							101	98	99					12																	50044493		2051	4215	6266	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044493G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1966C>T	12.37:g.50044493G>A	ENSP00000293590:p.Arg656Cys					FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C	p.R656C	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			17	2199	-			656			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1966C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085302	0.76642	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.24774	0.0601	L	0.27053	0.805	0.53688	D	0.999977	D;D;D	0.76494	0.998;0.996;0.999	D;P;P	0.64042	0.921;0.736;0.848	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.2905	0.49247	0.0:0.0:0.72:0.28	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	C	656;656;605;656	ENSP00000335655:R656C;ENSP00000447479:R656C;ENSP00000344311:R605C;ENSP00000293590:R656C	ENSP00000293590:R656C	R	-	1	0	FMNL3	48330760	0.983000	0.35010	1.000000	0.80357	0.980000	0.70556	1.336000	0.33850	2.834000	0.97654	0.650000	0.86243	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		50	186	0	0	0	1	0	50	186					A	50044493	G	A	50044493	3	1	78	1	0	0	0	0	1	0	0	0	5978	1116	39	1	1157	1	FMNL3	12	50044493	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5262221	50044493	83807402	108	10253											
KRT6A	3853	broad.mit.edu	37	chr12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccaacagagctgaggCcacccccaatggctctgcca	9	18	1	2	rs200198490		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1612-1614)gGc>gCc		keratin 6A							75	84	81					12																	52881586		2203	4298	6501	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881586C>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala						p.G538A	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1681	-			538			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1613G>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC		0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		6	338	0	0	0	1	0	6	338					G	52881586	C	G	52881586	3	3	78	1	0	0	0	0	1	0	0	0	8510	739	26	5	85	5	KRT6A	12	52881586	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	2837093	52881586	80970309	109	10254											
XPOT	11260	broad.mit.edu	37	chr12	64812754	64812755	+	Frame_Shift_Ins	INS	-	-	T													atctcactaagtggcccaagINStttttttttgacattctctc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:64812754_64812755insT	ENST00000332707.5	+	6	898_899	c.369_370insT	c.(370-372)tttfs	p.F124fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	124	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTGGCCCAAGTTTTTTTTTGA	0.441																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(367-372)aattttfs		exportin, tRNA																																				SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812754_64812755insT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.378dupT	12.37:g.64812763_64812763dupT	ENSP00000327821:p.Phe124fs						p.NF123fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	898_899	+			123			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Ins	INS	ENST00000332707.5	37	c.369_370insT	CCDS31852.1																																																																																				0.441	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		9	366						9	366	---	---	---	---	T	64812755	-	T	64812754	7	5	78	1	0	1	1	0	0	0	0	0	17504	1020	36	0	387	0	XPOT	12	64812754	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	11931168	64812754	69039141	110	10255											
TDG	6996	broad.mit.edu	37	chr12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaatttttagtaaagaaGtttttggagtaaaggttaag	10	0	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					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)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(724-726)Gtt>Ttt	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							46	49	48					12																	104377099		2167	4277	6444	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.chr12:104377099G>T	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.724G>T	12.37:g.104377099G>T	ENSP00000376611:p.Val242Phe					TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F	p.V242F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	958	+			242					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.724G>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539433	0.65085	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.258187	0.39083	N	0.001468	T	0.55737	0.1939	N	0.25380	0.74	0.40131	D	0.976715	D;P;B	0.71674	0.998;0.934;0.233	P;P;B	0.60789	0.879;0.545;0.151	T	0.59804	-0.7385	10	0.62326	D	0.03	-28.8349	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	38;242;242	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	F	242;238;99;235;38	ENSP00000376611:V242F;ENSP00000266775:V238F;ENSP00000445899:V99F;ENSP00000439825:V235F;ENSP00000439054:V38F	ENSP00000266775:V238F	V	+	1	0	TDG	102901229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.518000	0.84900	0.563000	0.77884	GTT		0.284	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			16	455	1	0	1.67942e-08	1	1.74105e-08	16	455					T	104377099	G	T	104377099	3	4	78	1	0	0	0	0	1	0	0	0	15777	1029	36	3	750	3	TDG	12	104377099	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	39564345	104377099	29474796	111	10256											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	517						7	517	---	---	---	---	-	121017156	CTC	-	121017154	7	5	78	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-HZ-A9TJ-01A-11D-A40W-08	16640055	121017154	12834741	112	10257											
CLIP1	6249	broad.mit.edu	37	chr12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T													ctgacactggttgtggcttgINStttccattttcttttcctgc					rs77289752	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:122812693_122812694insT	ENST00000540338.1	-	16	3090_3091	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T971fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.T592fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					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)			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)		GTTGTGGCTTGTTTCCATTTTC	0.505																																						ENST00000358808.2																			0				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						c.(3016-3018)aagfs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812693_122812694insT		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.3050dupA	12.37:g.122812696_122812696dupT	ENSP00000439093:p.Thr1017fs					CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs	p.K1006fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3170_3171	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1017					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3016_3017insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	652						9	652	---	---	---	---	T	122812694	-	T	122812693	7	5	78	1	0	1	1	0	0	0	0	0	3541	1377	48	0	1306	0	CLIP1	12	122812693	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	1795539	122812693	11039202	113	10258											
GPR133	283383	broad.mit.edu	37	chr12	131593364	131593364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcacctctacagcatggtGatcaaggtctttgggtcgga	12	10	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1981-1983)gtG>gtA		G protein-coupled receptor 133							176	160	166					12																	131593364		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593364G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1983G>A	12.37:g.131593364G>A						GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V	p.V661V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2542	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		661					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1983G>A	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		264	172	0	0	0	1	0	264	172					A	131593364	G	A	131593364	2	1	78	1	0	0	0	0	0	0	0	1	6672	1277	45	2		2	GPR133	12	131593364	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	8780671	131593364	2258531	114	10259											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	181	0	0	0	1	0	6	181					A	132547141	G	A	132547141	2	1	78	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	953777	132547141	1304754	115	10260											
MRP63	78988	broad.mit.edu	37	chr13	21751133	21751133	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaccggcggccgcggttCgtgtcgttgcgcgccaagca	15	14	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		26					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662																																						ENST00000309594.4																			0				kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(76-78)ttC>ttT		mitochondrial ribosomal protein 63							25	27	26					13																	21751133		2173	4265	6438	SO:0001819	synonymous_variant	78988							g.chr13:21751133C>T																												ENST00000309594.4:c.78C>T	13.37:g.21751133C>T							p.F26F	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	156	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	26					A2A332	Silent	SNP	ENST00000309594.4	37	c.78C>T	CCDS9296.1																																																																																				0.662	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			42	267	0	0	0	1	0	42	267					T	21751133	C	T	21751133	2	4	78	1	0	0	0	0	0	0	0	1	9814	883	31	1		1	MRP63	13	21751133	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		21751133	93418745	116	10261											
TM9SF2	9375	broad.mit.edu	37	chr13	100153955	100153955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggttcctggcccgcgccGgagcggcgctttctacctgc	15	16	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:100153955G>A	ENST00000376387.4	+	1	285	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCCGCGCCGGAGCGGCGCT	0.667																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(94-96)cGg>cAg		transmembrane 9 superfamily member 2							39	46	44					13																	100153955		2200	4298	6498	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100153955G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.95G>A	13.37:g.100153955G>A	ENSP00000365567:p.Arg32Gln						p.R32Q	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			1	285	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		32					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.95G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177171	0.38413	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	4.66	-3.93	0.04143	.	0.587551	0.19001	N	0.125345	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B;P	0.35908	0.052;0.527	B;B	0.21360	0.004;0.034	T	0.01460	-1.1349	10	0.23302	T	0.38	1.5671	21.9879	0.99964	0.0:0.8332:0.1668:0.0	.	32;32	E9PHW5;Q99805	.;TM9S2_HUMAN	Q	32	ENSP00000365567:R32Q	ENSP00000365567:R32Q	R	+	2	0	TM9SF2	98951956	0.018000	0.18449	0.552000	0.28243	0.996000	0.88848	-0.549000	0.06041	-0.599000	0.05798	0.655000	0.94253	CGG		0.667	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			6	384	0	0	0	1	0	6	384					A	100153955	G	A	100153955	3	1	78	1	0	0	0	0	1	0	0	0	16030	1116	39	1	97	1	TM9SF2	13	100153955	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	78402822	100153955	15015923	117	10262											
COL4A2	1284	broad.mit.edu	37	chr13	111102671	111102671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagaggagaggcctgccGggtgagatgggacccaaggg	19	8	1	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1207-1209)ccG>ccA		collagen, type IV, alpha 2							56	60	59					13																	111102671		1924	4136	6060	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111102671G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1209G>A	13.37:g.111102671G>A							p.P403P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		20	1515	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	403			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1209G>A	CCDS41907.1																																																																																				0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		98	220	0	0	0	1	0	98	220					A	111102671	G	A	111102671	2	1	78	1	0	0	0	0	0	0	0	1	3699	1103	39	1		1	COL4A2	13	111102671	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	10948716	111102671	4067207	118	10263											
DCAF5	8816	broad.mit.edu	37	chr14	69522129	69522129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctccagccctcgatctctCggcgtaccagtgagtcaaag	10	14	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:69522129C>T	ENST00000341516.5	-	9	1421	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	425					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCGATCTCTCGGCGTACCAG	0.587																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1273-1275)cGa>cAa		DDB1 and CUL4 associated factor 5							73	68	69					14																	69522129		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522129C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1274G>A	14.37:g.69522129C>T	ENSP00000341351:p.Arg425Gln					DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q	p.R425Q	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1421	-			425					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1274G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141952	0.77775	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.75938	-0.98;-0.81;-0.81;-0.3	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	L	0.34521	1.04	0.80722	D	1	P;P	0.49358	0.923;0.875	P;B	0.47891	0.56;0.357	T	0.71906	-0.4451	10	0.38643	T	0.18	-8.3451	19.7989	0.96497	0.0:1.0:0.0:0.0	.	424;425	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	425;343;343;424	ENSP00000341351:R425Q;ENSP00000451551:R343Q;ENSP00000452052:R343Q;ENSP00000451845:R424Q	ENSP00000341351:R425Q	R	-	2	0	DCAF5	68591882	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.336000	0.79245	2.683000	0.91414	0.561000	0.74099	CGA		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		5	272	0	0	0	1	0	5	272					T	69522129	C	T	69522129	3	4	78	1	0	0	0	0	1	0	0	0	4284	884	31	1	1558	1	DCAF5	14	69522129	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		69522129	37827411	119	10264											
PGF	5228	broad.mit.edu	37	chr14	75416111	75416111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagtgcagattctcatcGccgcagcagccggtgcagcg	12	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:75416111G>A	ENST00000405431.2	-	3	263	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PGF_ENST00000555567.1_Silent_p.G88G|PGF_ENST00000553716.1_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G			P49763	PLGF_HUMAN	placental growth factor	88					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	GATTCTCATCGCCGCAGCAGC	0.632																																					GBM(127;389 2301 5452 48547)	ENST00000555567.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(262-264)ggC>ggT		placental growth factor							68	57	61					14																	75416111		2203	4300	6503	SO:0001819	synonymous_variant	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75416111G>A	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"placenta growth factor"	601121	"placental growth factor-like", "placental growth factor, vascular endothelial growth factor-related protein"	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.264C>T	14.37:g.75416111G>A						PGF_ENST00000238607.6_Silent_p.G87G|PGF_ENST00000405431.2_Silent_p.G88G|PGF_ENST00000553716.1_Silent_p.G88G	p.G88G	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	3	805	-			88					Q07101|Q9BV78|Q9Y6S8	Silent	SNP	ENST00000405431.2	37	c.264C>T	CCDS9835.1																																																																																				0.632	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		12	240	0	0	0	1	0	12	240					A	75416111	G	A	75416111	2	1	78	1	0	0	0	0	0	0	0	1	11830	1074	38	1		1	PGF	14	75416111	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5893982	75416111	31933429	120	10265											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			7	166						7	166	---	---	---	---	-	88945630	TCC	-	88945628	7	5	78	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-HZ-A9TJ-01A-11D-A40W-08	13529517	88945628	18403912	121	10266											
PTPN21	11099	broad.mit.edu	37	chr14	89016677	89016677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaactcgttattaagcaGttggatccgggcaaccaggc	10	11	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L29L|RP11-507K2.3_ENST00000556328.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATTAAGCAGTTGGATCCGG	0.567																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(85-87)Ctg>Ttg		protein tyrosine phosphatase, non-receptor type 21							120	115	116					14																	89016677		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016677G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.85C>T	14.37:g.89016677G>A						PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR	p.L29L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	369	-			29			FERM.			Silent	SNP	ENST00000556564.1	37	c.85C>T	CCDS9884.1																																																																																				0.567	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			86	322	0	0	0	1	0	86	322					A	89016677	G	A	89016677	2	1	78	1	0	0	0	0	0	0	0	1	12836	1020	36	2		2	PTPN21	14	89016677	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	71049	89016677	18332863	122	10267											
EML1	2009	broad.mit.edu	37	chr14	100405553	100405553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtggccagaaggctcGgacggaaccgacatcaatgc	15	10	1	1	rs553895497		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGAAGGCTCGGACGGAACCG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2209-2211)tcG>tcA		echinoderm microtubule associated protein like 1							110	98	102					14																	100405553		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405553G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2211G>A	14.37:g.100405553G>A						EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	p.S737S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2350	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	737					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2211G>A	CCDS32155.1																																																																																				0.582	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		42	233	0	0	0	1	0	42	233					A	100405553	G	A	100405553	2	1	78	1	0	0	0	0	0	0	0	1	5114	1103	39	1		1	EML1	14	100405553	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11388876	100405553	6943987	123	10268											
XRCC3	7517	broad.mit.edu	37	chr14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacgtcagtgcgcagcCgcggctgctgggccatgagc	16	13	1	1	rs546280840		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18134	0.0		0.0	False		,,,				2504	0.0					ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(478-480)cGg>cAg	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							38	30	32					14																	104169592		2186	4291	6477	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169592C>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.479G>A	14.37:g.104169592C>T	ENSP00000451974:p.Arg160Gln					XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron	p.R160Q			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1275	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	160					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.479G>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858680	0.17178	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.7	-3.94	0.04130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	1.857050	0.02717	N	0.113582	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.24297	-1.0164	10	0.31617	T	0.26	-22.7782	12.9742	0.58529	0.0:0.165:0.0:0.835	.	160	O43542	XRCC3_HUMAN	Q	160	ENSP00000451362:R160Q;ENSP00000343392:R160Q;ENSP00000451974:R160Q;ENSP00000452598:R160Q;ENSP00000412990:R160Q	ENSP00000343392:R160Q	R	-	2	0	XRCC3	103239345	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.699000	0.01906	-0.879000	0.04002	-0.367000	0.07326	CGG		0.622	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		7	31	0	0	0	1	0	7	31					T	104169592	C	T	104169592	3	4	78	1	0	0	0	0	1	0	0	0	17508	652	23	1	577	1	XRCC3	14	104169592	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	3764039	104169592	3179948	124	10269											
MYO5A	4644	broad.mit.edu	37	chr15	52672018	52672018	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaaaatgccaggctcaCcgtgaggggaaaccggccgc	13	12	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e17+1		myosin VA (heavy chain 12, myoxin)							105	108	107					15																	52672018		1920	4133	6053	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672018C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2099+1G>A	15.37:g.52672018C>T						MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site		NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2343	-								A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385741	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1161	0.72404	0.0:0.8581:0.1419:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50459310	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	.		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Intron	75	418	0	0	0	1	0	75	418					T	52672018	C	T	52672018	5	4	78	1	0	0	0	0	0	0	1	0	10119	521	18	2	3567	2	MYO5A	15	52672018	Splice_Site	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		52672018	49859374	125	10270											
SNUPN	10073	broad.mit.edu	37	chr15	75899578	75899579	+	Frame_Shift_Ins	INS	-	-	C													ggcaatcataaaaagggtgtINSccccgccagcacatcacatc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:75899578_75899579insC	ENST00000564644.1	-	7	1156_1157	c.578_579insG	c.(577-579)ggafs	p.G193fs	SNUPN_ENST00000564675.1_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000567134.1_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000308588.5_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000371091.5_Frame_Shift_Ins_p.G235fs			O95149	SPN1_HUMAN	snurportin 1	193					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AAAAAGGGTGTCCCCGCCAGCA	0.505																																						ENST00000371091.5																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(703-705)gcafs		snurportin 1																																				SO:0001589	frameshift_variant	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75899578_75899579insC	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.579dupG	15.37:g.75899582_75899582dupC	ENSP00000454852:p.Gly193fs					SNUPN_ENST00000564675.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000308588.5_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000567134.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000564644.1_Frame_Shift_Ins_p.A193fs	p.A235fs			O95149	SPN1_HUMAN			7	1156_1157	-			193			Necessary for binding to the m3G-cap structure.		A6NE34|A8K0B0|D3DW76	Frame_Shift_Ins	INS	ENST00000564644.1	37	c.704_705insG	CCDS10281.1																																																																																				0.505	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		7	471						7	471	---	---	---	---	C	75899579	-	C	75899578	7	5	78	1	0	1	1	0	0	0	0	0	14927	1654	58	0	519	0	SNUPN	15	75899578	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	23227560	75899578	26631814	126	10271											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140385	3140385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagctcaccccgcagtcCgcgcagatgaactgcaactc	11	15	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.A213A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(883-885)gcG>gcA		zinc finger and SCAN domain containing 10							50	52	52					16																	3140385		2165	4244	6409	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140385C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.885G>A	16.37:g.3140385C>T						ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	p.A295A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	972	-			295					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.885G>A	CCDS10493.1																																																																																				0.632	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		84	304	0	0	0	1	0	84	304					T	3140385	C	T	3140385	2	4	78	1	0	0	0	0	0	0	0	1	18280	639	23	1		1	ZSCAN10	16	3140385	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		3140385	87214368	127	10272											
ACSM2B	348158	broad.mit.edu	37	chr16	20566614	20566614	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtttcttgaagttcagCcacccatcgcagcttttctc	7	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20566614C>T	ENST00000329697.6	-	4	741	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	191					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAAGTTCAGCCACCCATCGC	0.443																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(571-573)tgG>tgA		acyl-CoA synthetase medium-chain family member 2B							243	229	234					16																	20566614		2201	4300	6501	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20566614C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.573G>A	16.37:g.20566614C>T	ENSP00000327453:p.Trp191*					ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*	p.W191*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			4	741	-			191					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.573G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	39	7.660205	0.98419	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	.	.	.	3.11	2.13	0.27403	.	0.000000	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5735	10.4961	0.44778	0.1964:0.8036:0.0:0.0	.	.	.	.	X	191	.	ENSP00000327453:W191X	W	-	3	0	ACSM2B	20474115	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	4.073000	0.57570	0.618000	0.30179	0.609000	0.83330	TGG		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	904	0	0	0	1	0	8	904					T	20566614	C	T	20566614	4	4	78	1	0	0	0	0	0	1	0	0	184	740	26	2	1204	2	ACSM2B	16	20566614	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	17426229	20566614	69788139	128	10273											
NLRC5	84166	broad.mit.edu	37	chr16	57092011	57092011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgacagcggactcAgatgccttctggaatgtctg	14	10	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57092011A>G	ENST00000262510.6	+	28	4006	c.3781A>G	c.(3781-3783)Aga>Gga	p.R1261G	NLRC5_ENST00000436936.1_Missense_Mutation_p.R1261G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1261					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCGGACTCAGATGCCTTCT	0.572																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3781-3783)Aga>Gga		NLR family, CARD domain containing 5							61	50	53					16																	57092011		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092011A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3781A>G	16.37:g.57092011A>G	ENSP00000262510:p.Arg1261Gly					NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1261G|RP11-322D14.2_ENST00000562970.1_RNA	p.R1261G			Q86WI3	NLRC5_HUMAN			28	4006	+		all_neural(199;0.225)	1261					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3781A>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.659|7.659	0.684568|0.684568	0.14973|0.14973	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.53423	.|0.62;5.54;0.62;5.54;0.62	4.68|4.68	2.39|2.39	0.29439|0.29439	.|.	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.36465	.|0.554;0.515;0.302;0.094	.|B;B;B;B	.|0.35550	.|0.205;0.156;0.08;0.054	T|T	0.28004|0.28004	-1.0057|-1.0057	5|9	.|0.49607	.|T	.|0.09	.|.	8.9296|8.9296	0.35661|0.35661	0.6488:0.3512:0.0:0.0|0.6488:0.3512:0.0:0.0	.|.	.|945;1232;1261;1261	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	R|G	1012;12|1261;1232;1261;704;1232;737	.|ENSP00000262510:R1261G;ENSP00000308886:R1232G;ENSP00000389739:R1261G;ENSP00000441727:R1232G;ENSP00000441597:R737G	.|ENSP00000262510:R1261G	Q|R	+|+	2|1	0|2	NLRC5|NLRC5	55649512|55649512	0.968000|0.968000	0.33430|0.33430	0.285000|0.285000	0.24819|0.24819	0.051000|0.051000	0.14879|0.14879	1.064000|1.064000	0.30579|0.30579	0.292000|0.292000	0.22492|0.22492	0.449000|0.449000	0.29647|0.29647	CAG|AGA		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	181	0	0	0	1	0	4	181					G	57092011	A	G	57092011	3	3	78	1	0	0	0	0	1	0	0	0	10512	180	7	4	3883	4	NLRC5	16	57092011	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	36525397	57092011	33262742	129	10274											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	573						8	573	---	---	---	---	-	57731887	GGA	-	57731885	7	5	78	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-HZ-A9TJ-01A-11D-A40W-08	639874	57731885	32622868	130	10275											
CCDC135	84229	broad.mit.edu	37	chr16	57764951	57764951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctctcaggccatgttcCgcatccgcatcctggagcag	10	15	1	0	rs568917398		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57764951C>T	ENST00000360716.3	+	18	2721	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C			Q8IY82	CC135_HUMAN		834					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCCATGTTCCGCATCCGCAT	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21079	0.0		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2500-2502)Cgc>Tgc		coiled-coil domain containing 135							102	90	94					16																	57764951		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57764951C>T																												ENST00000360716.3:c.2500C>T	16.37:g.57764951C>T	ENSP00000353942:p.Arg834Cys					CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C	p.R834C			Q8IY82	CC135_HUMAN			18	2721	+			834					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2500C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.831476	0.32329	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55413	0.52;0.52;0.52	5.04	4.09	0.47781	.	0.274751	0.35646	N	0.003074	T	0.73613	0.3609	M	0.85197	2.74	0.58432	D	0.999999	B;D	0.89917	0.056;1.0	B;D	0.91635	0.026;0.999	T	0.77892	-0.2418	10	0.66056	D	0.02	-22.0214	12.618	0.56588	0.0:0.9179:0.0:0.0821	.	769;834	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	834;769;834	ENSP00000377869:R834C;ENSP00000338938:R769C;ENSP00000353942:R834C	ENSP00000338938:R769C	R	+	1	0	CCDC135	56322452	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.268000	0.43338	1.275000	0.44379	-0.156000	0.13503	CGC		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			107	221	0	0	0	1	0	107	221					T	57764951	C	T	57764951	3	4	78	1	0	0	0	0	1	0	0	0	2776	652	23	1	2562	1	CCDC135	16	57764951	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	33066	57764951	32589802	131	10276											
CNGB1	1258	broad.mit.edu	37	chr16	57945695	57945695	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacccagtgagtggagccGaggccctgataggccgatgc	14	11	0	2	rs528283367		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57945695G>A	ENST00000251102.8	-	25	2514	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	CNGB1_ENST00000564448.1_Silent_p.L812L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	818					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGGAGCCGAGGCCCTGAT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.0		0.001	False		,,,				2504	0.0				Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2434-2436)ctC>ctT		cyclic nucleotide gated channel beta 1							56	58	57					16																	57945695		1958	4152	6110	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57945695G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2454C>T	16.37:g.57945695G>A						CNGB1_ENST00000251102.8_Silent_p.L818L	p.L812L			Q14028	CNGB1_HUMAN			25	2496	-			818					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.2436C>T	CCDS42169.1																																																																																				0.547	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		85	171	0	0	0	1	0	85	171					A	57945695	G	A	57945695	2	1	78	1	0	0	0	0	0	0	0	1	3609	1045	37	1		1	CNGB1	16	57945695	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	180744	57945695	32409058	132	10277											
ZFHX3	463	broad.mit.edu	37	chr16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-													cacgccaggcagtggtacgaGccgccgccgccgccgccgcc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		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)			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)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				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						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	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.chr16:72821594_72821596delGCC	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.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.69	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	489						8	489	---	---	---	---	-	72821596	GCC	-	72821594	7	5	78	1	0	1	0	1	0	0	0	0	17687	958	34	0	534	0	ZFHX3	16	72821594	In_Frame_Del	DEL	GCC	TCGA-HZ-A9TJ-01A-11D-A40W-08	14875899	72821594	17533159	133	10278											
OSGIN1	29948	broad.mit.edu	37	chr16	83994666	83994666	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtcaaggactggatgcaGaagaagcgaaggtgaggccg	18	6	1	3	rs376376327		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:83994666G>A	ENST00000343939.2	+	6	1109	c.726G>A	c.(724-726)caG>caA	p.Q242Q	OSGIN1_ENST00000361711.3_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000565123.1_Silent_p.Q159Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	242					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)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						ACTGGATGCAGAAGAAGCGAA	0.572																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(724-726)caG>caA		oxidative stress induced growth inhibitor 1		G	,,	0,4400		0,0,2200	64	65	65		726,477,477	0.1	0.2	16		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	242/561,159/478,159/478	83994666	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994666G>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.726G>A	16.37:g.83994666G>A						OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q	p.Q242Q			Q9UJX0	OSGI1_HUMAN			6	1109	+			242					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.726G>A																																																																																					0.572	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		57	242	0	0	0	1	0	57	242					A	83994666	G	A	83994666	2	1	78	1	0	0	0	0	0	0	0	1	11331	933	33	2		2	OSGIN1	16	83994666	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11173072	83994666	6360087	134	10279											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		82	79	0	0	0	1	0	82	79					T	7578406	C	T	7578406	3	4	78	1	0	0	0	0	1	0	0	0	16434	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		7578406	73616804	135	10280											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		9	224						9	224	---	---	---	---	-	16335492	TGC	-	16335490	7	5	78	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-HZ-A9TJ-01A-11D-A40W-08	8757084	16335490	64859720	136	10281											
TMEM132E	124842	broad.mit.edu	37	chr17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcctgcgggaggcgCggcccccgtcacccgcggtc	13	19	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(184-186)Cgg>Tgg		transmembrane protein 132E							10	11	11					17																	32953262		2174	4249	6423	SO:0001583	missense	124842					integral to membrane		g.chr17:32953262C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.184C>T	17.37:g.32953262C>T	ENSP00000316532:p.Arg62Trp						p.R62W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	512	+			62					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.184C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000181291	ENST00000321639	T	0.11495	2.77	4.82	3.81	0.43845	.	0.445588	0.24391	N	0.038924	T	0.09512	0.0234	N	0.19112	0.55	0.21020	N	0.999805	D	0.60160	0.987	P	0.47705	0.555	T	0.11108	-1.0601	10	0.66056	D	0.02	-27.4389	8.5268	0.33309	0.1556:0.5772:0.2672:0.0	.	62	Q6IEE7	T132E_HUMAN	W	62	ENSP00000316532:R62W	ENSP00000316532:R62W	R	+	1	2	TMEM132E	29977375	0.834000	0.29399	0.889000	0.34880	0.942000	0.58702	1.415000	0.34748	0.913000	0.36797	0.478000	0.44815	CGG		0.731	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		7	37	0	0	0	1	0	7	37					T	32953262	C	T	32953262	3	4	78	1	0	0	0	0	1	0	0	0	16100	759	27	1	190	1	TMEM132E	17	32953262	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	16617772	32953262	48241948	137	10282											
TEX19	400629	broad.mit.edu	37	chr17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggacccagggtcttcccTggagatttgaggagcttctt	12	10	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597																																						ENST00000333437.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(439-441)Tgg>Cgg		testis expressed 19							51	51	51					17																	80320465		2203	4297	6500	SO:0001583	missense	400629					nucleus		g.chr17:80320465T>C	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.439T>C	17.37:g.80320465T>C	ENSP00000331500:p.Trp147Arg						p.W147R	NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN			2	749	+			147						Missense_Mutation	SNP	ENST00000333437.4	37	c.439T>C	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901393	0.33535	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.58524	0.2128	L	0.34521	1.04	0.36261	D	0.85455	D	0.89917	1.0	D	0.87578	0.998	T	0.66376	-0.5939	8	0.87932	D	0	-12.8215	8.7547	0.34639	0.0:0.0:0.0:1.0	.	147	Q8NA77	TEX19_HUMAN	R	147	.	ENSP00000331500:W147R	W	+	1	0	TEX19	77913754	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.553000	0.36255	1.836000	0.53414	0.460000	0.39030	TGG		0.597	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		79	336	0	0	0	1	0	79	336					C	80320465	T	C	80320465	3	2	78	1	0	0	0	0	1	0	0	0	15832	1580	55	4	441	4	TEX19	17	80320465	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	47367203	80320465	874745	138	10283											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	233						7	233	---	---	---	---	-	12986929	TCC	-	12986927	6	5	78	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-HZ-A9TJ-01A-11D-A40W-08		12986927	65090321	139	10284											
MIB1	57534	broad.mit.edu	37	chr18	19353645	19353645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcagcatatgtcctctggGataatggtgctaagaacctt	11	9	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:19353645G>A	ENST00000261537.6	+	4	856	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	198	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGTCCTCTGGGATAATGGTGC	0.428																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(592-594)Gat>Aat		mindbomb E3 ubiquitin protein ligase 1							101	86	91					18																	19353645		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19353645G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.592G>A	18.37:g.19353645G>A	ENSP00000261537:p.Asp198Asn					MIB1_ENST00000578646.1_3'UTR	p.D198N	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		4	856	+			198			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.592G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795298	0.90453	.	.	ENSG00000101752	ENST00000261537	T	0.39406	1.08	5.36	5.36	0.76844	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63444	-0.6636	10	0.30078	T	0.28	-20.2918	19.0873	0.93209	0.0:0.0:1.0:0.0	.	198	Q86YT6	MIB1_HUMAN	N	198	ENSP00000261537:D198N	ENSP00000261537:D198N	D	+	1	0	MIB1	17607643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.508000	0.84585	0.655000	0.94253	GAT		0.428	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		23	543	0	0	0	1	0	23	543					A	19353645	G	A	19353645	3	1	78	1	0	0	0	0	1	0	0	0	9607	1174	41	2	606	2	MIB1	18	19353645	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	6366718	19353645	58723603	140	10285											
LAMA3	3909	broad.mit.edu	37	chr18	21426313	21426313	+	Frame_Shift_Del	DEL	T	T	-													ccgccaggtccctggtggccTtttaccacaagggcgccctg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:21426313delT	ENST00000313654.9	+	31	4013	c.3772delT	c.(3772-3774)tttfs	p.F1258fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1258	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTGGTGGCCTTTTACCACAA	0.622																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3772-3774)ttfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89	92	91					18																	21426313		1930	4130	6060	SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426313delT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3772delT	18.37:g.21426313delT	ENSP00000324532:p.Phe1258fs					LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4013	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1258			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.3772delT	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	1266						7	1266	---	---	---	---	-	21426313	T	-	21426313	7	5	78	1	0	1	0	1	0	0	0	0	8638	1609	56	0	3894	0	LAMA3	18	21426313	Frame_Shift_Del	DEL	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	2072668	21426313	56650935	141	10286											
HDHD2	84064	broad.mit.edu	37	chr18	44661018	44661018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctttctaacaggtcttgCttgctctctttggttgtatt	7	9	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:44661018C>T	ENST00000300605.6	-	3	311	c.159G>A	c.(157-159)aaG>aaA	p.K53K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	53						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACAGGTCTTGCTTGCTCTCTT	0.403																																						ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(157-159)aaG>aaA		haloacid dehalogenase-like hydrolase domain containing 2							164	164	164					18																	44661018		2203	4300	6503	SO:0001819	synonymous_variant	84064						hydrolase activity	g.chr18:44661018C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.159G>A	18.37:g.44661018C>T						HDHD2_ENST00000587841.1_Intron	p.K53K	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			3	311	-			53					A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	37	c.159G>A	CCDS32829.1																																																																																				0.403	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		65	211	0	0	0	1	0	65	211					T	44661018	C	T	44661018	2	4	78	1	0	0	0	0	0	0	0	1	7053	796	28	2		2	HDHD2	18	44661018	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	23234705	44661018	33416230	142	10287											
FUT6	2528	broad.mit.edu	37	chr19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaccaagccgctatgCcgcgtgtctggtacctggat	13	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(1057-1059)gGc>gAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70	80	77					19																	5831521		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831521C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1058G>A	19.37:g.5831521C>T	ENSP00000313398:p.Gly353Asp					FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	2252	-			353					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1058G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		6	385	0	0	0	1	0	6	385					T	5831521	C	T	5831521	3	4	78	1	0	0	0	0	1	0	0	0	6135	739	26	2	25	2	FUT6	19	5831521	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		5831521	53297462	143	10288											
SBSN	374897	broad.mit.edu	37	chr19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-													ccatccagggccttgcccacCtctctctctgcattgctcag							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		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)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	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.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	937						8	937	---	---	---	---	-	36019047	CT	-	36019046	7	5	78	1	0	1	0	1	0	0	0	0	13914	680	24	0	1650	0	SBSN	19	36019046	Frame_Shift_Del	DEL	CT	TCGA-HZ-A9TJ-01A-11D-A40W-08	30187525	36019046	23109937	144	10289											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1246						7	1246	---	---	---	---	-	36054351	CTT	-	36054349	7	5	78	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-HZ-A9TJ-01A-11D-A40W-08	35303	36054349	23074634	145	10290											
ZFP36	7538	broad.mit.edu	37	chr19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-													gccctctggccgccggacctCaccaccaccaccaggcctgg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	1190						7	1190	---	---	---	---	-	39898950	CAC	-	39898948	7	5	78	1	0	1	0	1	0	0	0	0	17698	838	29	0	596	0	ZFP36	19	39898948	In_Frame_Del	DEL	CAC	TCGA-HZ-A9TJ-01A-11D-A40W-08	3844599	39898948	19230035	146	10291											
SCAF1	58506	broad.mit.edu	37	chr19	50158041	50158042	+	Frame_Shift_Ins	INS	-	-	C													tctggggggctgcggttcgaINSccccccccacccccaccggg					rs149487378		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50158041_50158042insC	ENST00000360565.3	+	9	3656_3657	c.3532_3533insC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGCGGTTCGACCCCCCCCACC	0.693																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3532-3534)cccfs		SR-related CTD-associated factor 1				36,4184		1,34,2075						4.2	0.8			26	32,8138		0,32,4053	no	frameshift	SCAF1	NM_021228.2		1,66,6128	A1A1,A1R,RR		0.3917,0.8531,0.5488				68,12322				SO:0001589	frameshift_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50158041_50158042insC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3540dupC	19.37:g.50158049_50158049dupC	ENSP00000353769:p.Thr1178fs						p.P1178fs	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3656_3657	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1178					Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	c.3532_3533insC	CCDS33074.1																																																																																				0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		8	342						8	342	---	---	---	---	C	50158042	-	C	50158041	7	5	78	1	0	1	1	0	0	0	0	0	13918	275	10	0	3562	0	SCAF1	19	50158041	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	10259093	50158041	8970942	147	10292											
ATF5	22809	broad.mit.edu	37	chr19	50436260	50436260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcgagctgaaggaacggGcagagtccgtggagcgcgag	18	9	0	2	rs376565297	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50436260G>A	ENST00000423777.2	+	3	1137	c.760G>A	c.(760-762)Gca>Aca	p.A254T	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	254	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GAAGGAACGGGCAGAGTCCGT	0.667													G|||	4	0.000798722	0.003	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0				GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(760-762)Gca>Aca		activating transcription factor 5		G	THR/ALA,THR/ALA	1,4403		0,1,2201	37	40	39		760,760	4.5	0.9	19		39	0,8600		0,0,4300	no	missense,missense	ATF5	NM_001193646.1,NM_012068.5	58,58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	254/283,254/283	50436260	1,13003	2202	4300	6502	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436260G>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.760G>A	19.37:g.50436260G>A	ENSP00000396954:p.Ala254Thr					CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T	p.A254T	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	1137	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	254					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.760G>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734599	0.69189	2.27E-4	0.0	ENSG00000169136	ENST00000423777	T	0.56776	0.44	4.54	4.54	0.55810	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.071375	0.53938	D	0.000044	T	0.66992	0.2846	M	0.69358	2.11	0.48511	D	0.999666	D	0.69078	0.997	D	0.72338	0.977	T	0.68880	-0.5292	10	0.56958	D	0.05	-6.7244	10.1231	0.42632	0.0:0.0:0.8:0.2	.	254	Q9Y2D1	ATF5_HUMAN	T	254	ENSP00000396954:A254T	ENSP00000396954:A254T	A	+	1	0	ATF5	55128072	1.000000	0.71417	0.950000	0.38849	0.353000	0.29299	7.197000	0.77814	2.079000	0.62486	0.448000	0.29417	GCA		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			12	212	0	0	0	1	0	12	212					A	50436260	G	A	50436260	3	1	78	1	0	0	0	0	1	0	0	0	1084	1203	42	2	766	2	ATF5	19	50436260	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	278219	50436260	8692723	148	10293											
ZNF28	7576	broad.mit.edu	37	chr19	53303834	53303834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccaggtatgaattatAtgcaaaagccttgtcacaaa	7	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53303834A>T	ENST00000457749.2	-	4	1383	c.1264T>A	c.(1264-1266)Tat>Aat	p.Y422N	ZNF28_ENST00000438150.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGAATTATATGCAAAAGCC	0.353																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1105-1107)Tat>Aat		zinc finger protein 28							117	124	122					19																	53303834		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303834A>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1264T>A	19.37:g.53303834A>T	ENSP00000397693:p.Tyr422Asn					ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y422N	p.Y369N			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1998	-			422					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1105T>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.848	-0.032494	0.07543	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	1.75	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.23128	0.08	B	0.25140	0.058	T	0.40213	-0.9575	9	0.30854	T	0.27	.	4.1215	0.10108	0.3639:0.3121:0.324:0.0	.	422	P17035	ZNF28_HUMAN	N	369;422;369;369;369	ENSP00000412143:Y369N;ENSP00000397693:Y422N;ENSP00000353410:Y369N;ENSP00000444965:Y369N;ENSP00000375661:Y369N	ENSP00000353410:Y369N	Y	-	1	0	ZNF28	57995646	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-11.752000	0.00003	-1.516000	0.01782	0.165000	0.16767	TAT		0.353	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		10	1162	0	0	0	1	0	10	1162					T	53303834	A	T	53303834	3	4	78	1	0	0	0	0	1	0	0	0	17866	449	16	5	896	5	ZNF28	19	53303834	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	2867574	53303834	5825149	149	10294											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		10	1324	0	0	0	1	0	10	1324					A	53644386	T	A	53644386	2	1	78	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	340552	53644386	5484597	150	10295											
NLRP12	91662	broad.mit.edu	37	chr19	54314230	54314230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagtccagcatcaccttgTgtgccagcatggacttgcct	9	15	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54314230T>C	ENST00000324134.6	-	3	851	c.683A>G	c.(682-684)cAc>cGc	p.H228R	NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCACCTTGTGTGCCAGCAT	0.577																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(682-684)cAc>cGc		NLR family, pyrin domain containing 12							91	69	77					19																	54314230		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314230T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.683A>G	19.37:g.54314230T>C	ENSP00000319377:p.His228Arg					NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R	p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	851	-	Ovarian(34;0.19)		228			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.683A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	0.687	-0.795867	0.02862	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.47	1.18	0.20946	NACHT nucleoside triphosphatase (1);	0.313100	0.23263	N	0.050104	T	0.42359	0.1199	N	0.01493	-0.835	0.80722	D	1	B;B;B;B	0.26935	0.134;0.064;0.134;0.164	B;B;B;B	0.26517	0.031;0.031;0.031;0.07	T	0.45101	-0.9284	10	0.02654	T	1	.	7.0128	0.24871	0.0:0.2972:0.0:0.7028	.	228;228;228;228	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	228	ENSP00000319377:H228R;ENSP00000438030:H228R;ENSP00000340473:H228R;ENSP00000346231:H228R;ENSP00000375655:H228R;ENSP00000375653:H228R;ENSP00000375652:H228R	ENSP00000319377:H228R	H	-	2	0	NLRP12	59006042	0.996000	0.38824	0.973000	0.42090	0.891000	0.51852	0.716000	0.25836	0.224000	0.20940	0.254000	0.18369	CAC		0.577	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	462	0	0	0	1	0	13	462					C	54314230	T	C	54314230	3	2	78	1	0	0	0	0	1	0	0	0	10516	1696	59	4	2630	4	NLRP12	19	54314230	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	669844	54314230	4814753	151	10296											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	547						9	547	---	---	---	---	-	54675749	TCC	-	54675747	7	5	78	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-HZ-A9TJ-01A-11D-A40W-08	361517	54675747	4453236	152	10297											
LILRA2	11027	broad.mit.edu	37	chr19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G													caccctgggccctgtgagccCctcccacgggggccagtaca					rs560494676	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0.0	0.0029	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51	53	52					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	505	0	0	0	1	0	7	505					G	55086927	C	G	55086927	3	3	78	1	0	0	0	0	1	0	0	0	8817	623	22	5	878	5	LILRA2	19	55086927	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	411180	55086927	4042056	153	10298	67	2									
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T													tgggccctgtgagcccctccCacgggggccagtacagatgc					rs532565720	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	502	0	0	0	1	0	7	502					T	55086932	C	T	55086932	3	4	78	1	0	0	0	0	1	0	0	0	8817	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	5	55086932	4042051	154	10299	67	2									
PPP1R12C	54776	broad.mit.edu	37	chr19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-													ccctcatcctcgtcctggatGgggggccccccagccccacc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55607456delG	ENST00000263433.3	-	8	1131	c.1116delC	c.(1114-1116)cccfs	p.P372fs	PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.P372fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.P298fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTCCTGGATGGGGGGCCCCC	0.642																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1114-1116)ccfs		protein phosphatase 1, regulatory subunit 12C							48	61	56					19																	55607456		2203	4297	6500	SO:0001589	frameshift_variant	54776					cytoplasm		g.chr19:55607456delG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1116delC	19.37:g.55607456delG	ENSP00000263433:p.Pro372fs					PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.P298fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.P372fs	p.P372fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1131	-			372						Frame_Shift_Del	DEL	ENST00000263433.3	37	c.1116delC	CCDS12916.1																																																																																				0.642	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		7	777						7	777	---	---	---	---	-	55607456	G	-	55607456	7	5	78	1	0	1	0	1	0	0	0	0	12403	1335	47	0	1292	0	PPP1R12C	19	55607456	Frame_Shift_Del	DEL	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	520524	55607456	3521527	155	10300											
ZNF543	125919	broad.mit.edu	37	chr19	57839619	57839619	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggagtgtgggaaggcTtttaaccgcaggtcacacct	13	9	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57839619T>C	ENST00000321545.4	+	4	1134	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGGCTTTTAACCGCA	0.522																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(787-789)gcT>gcC		zinc finger protein 543							67	66	66					19																	57839619		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839619T>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.789T>C	19.37:g.57839619T>C							p.A263A	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1134	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	263					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.789T>C	CCDS33130.1																																																																																				0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		5	463	0	0	0	1	0	5	463					C	57839619	T	C	57839619	2	2	78	1	0	0	0	0	0	0	0	1	18029	1596	56	4		4	ZNF543	19	57839619	Silent	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	2232163	57839619	1289364	156	10301											
NKX2-4	644524	broad.mit.edu	37	chr20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgtccttggcctgcCgtttcatcttgtaccggtgg	11	14	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(736-738)cGg>cAg		NK2 homeobox 4							33	32	32					20																	21376877		2203	4300	6503	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376877C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.737G>A	20.37:g.21376877C>T	ENSP00000345147:p.Arg246Gln						p.R246Q	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1365	-			246					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.737G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394647	0.83011	.	.	ENSG00000125816	ENST00000351817	D	0.96396	-4.0	3.49	3.49	0.39957	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	U	0.000036	D	0.97885	0.9305	M	0.84156	2.68	0.58432	D	0.999993	D	0.69078	0.997	D	0.72982	0.979	D	0.98753	1.0721	10	0.87932	D	0	.	14.7591	0.69593	0.0:1.0:0.0:0.0	.	246	Q9H2Z4	NKX24_HUMAN	Q	246	ENSP00000345147:R246Q	ENSP00000345147:R246Q	R	-	2	0	NKX2-4	21324877	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.095000	0.76952	1.781000	0.52344	0.484000	0.47621	CGG		0.711	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			11	45	0	0	0	1	0	11	45					T	21376877	C	T	21376877	3	4	78	1	0	0	0	0	1	0	0	0	10494	652	23	1	331	1	NKX2-4	20	21376877	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		21376877	41648643	157	10302											
SLC12A5	57468	broad.mit.edu	37	chr20	44685548	44685548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagggagtgggagaaCttgtaagtgcttcagcattt	13	6	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.2	+	24	3241	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3190-3192)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						171	161	165					20																	44685548		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685548C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3192C>T	20.37:g.44685548C>T						SLC12A5_ENST00000243964.3_Silent_p.N1041N	p.N1064N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			24	3268	+		Myeloproliferative disorder(115;0.0122)	1064					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3192C>T	CCDS46610.1																																																																																				0.493	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			53	353	0	0	0	1	0	53	353					T	44685548	C	T	44685548	2	4	78	1	0	0	0	0	0	0	0	1	14436	564	20	2		2	SLC12A5	20	44685548	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	23308671	44685548	18339972	158	10303											
SLC2A10	81031	broad.mit.edu	37	chr20	45354423	45354423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaacagggcagcccaacGtgctgtgctatgcctccacc	9	15	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45354423G>A	ENST00000359271.2	+	2	998	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	250					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCCAACGTGCTGTGCTA	0.622																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(748-750)Gtg>Atg		solute carrier family 2 (facilitated glucose transporter), member 10							114	103	107					20																	45354423		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354423G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.748G>A	20.37:g.45354423G>A	ENSP00000352216:p.Val250Met						p.V250M	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	998	+		Myeloproliferative disorder(115;0.0122)	250					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.748G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586473	0.66105	.	.	ENSG00000197496	ENST00000359271	T	0.76448	-1.02	5.86	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057050	0.64402	D	0.000002	D	0.86146	0.5863	M	0.76170	2.325	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	D	0.87084	0.2168	10	0.87932	D	0	-18.7043	10.4704	0.44633	0.0688:0.0:0.7961:0.1351	.	250	O95528	GTR10_HUMAN	M	250	ENSP00000352216:V250M	ENSP00000352216:V250M	V	+	1	0	SLC2A10	44787830	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.571000	0.60879	1.432000	0.47375	0.655000	0.94253	GTG		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			83	599	0	0	0	1	0	83	599					A	45354423	G	A	45354423	3	1	78	1	0	0	0	0	1	0	0	0	14589	1145	40	1	754	1	SLC2A10	20	45354423	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	668875	45354423	17671097	159	10304											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-													ctgggtttgtaggcttgggcTtttttttaacagcagatggc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs	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	635					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)			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)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				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						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203	199	200					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	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.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					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	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		7	1074						7	1074	---	---	---	---	-	45875072	T	-	45875072	7	5	78	1	0	1	0	1	0	0	0	0	17764	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Del	DEL	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	520649	45875072	17150448	160	10305											
TFAP2C	7022	broad.mit.edu	37	chr20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-													tgggaccagcaggctcgcccCagtcttggagacgaacatac							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.55																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1138-1140)cfs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55212855_55212856delCA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1139_1140delCA	20.37:g.55212855_55212856delCA	ENSP00000201031:p.Pro380fs					TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	p.P380fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		7	1382_1383	+			380			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.1139_1140delCA	CCDS13454.1																																																																																				0.55	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		129	378						129	378	---	---	---	---	-	55212856	CA	-	55212855	7	5	78	1	0	1	0	1	0	0	0	0	15841	594	21	0	1165	0	TFAP2C	20	55212855	Frame_Shift_Del	DEL	CA	TCGA-HZ-A9TJ-01A-11D-A40W-08	9337783	55212855	7812665	161	10306											
GTPBP5	26164	broad.mit.edu	37	chr20	60772965	60772965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggtaccagggtttcagtgGagaagatggagggagtaaaa	17	4	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:60772965G>A	ENST00000370823.3	+	4	428	c.410G>A	c.(409-411)gGa>gAa	p.G137E	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	137	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGTTTCAGTGGAGAAGATGGA	0.562																																						ENST00000370823.3																			0											c.(409-411)gGa>gAa		mitochondrial ribosome-associated GTPase 2							141	123	129					20																	60772965		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60772965G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.410G>A	20.37:g.60772965G>A	ENSP00000359859:p.Gly137Glu					MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron	p.G137E	NM_015666.3	NP_056481.1					4	428	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.410G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344696	0.61073	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.61510	0.1;0.1	5.51	5.51	0.81932	GTP1/OBG subdomain (3);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92167	0.5740	10	0.87932	D	0	-20.722	17.2039	0.86913	0.0:0.0:1.0:0.0	.	137;137	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	E	137	ENSP00000359859:G137E;ENSP00000414693:G137E	ENSP00000359859:G137E	G	+	2	0	GTPBP5	60206360	1.000000	0.71417	0.130000	0.21974	0.055000	0.15305	7.735000	0.84939	2.592000	0.87571	0.650000	0.86243	GGA		0.562	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		23	520	0	0	0	1	0	23	520					A	60772965	G	A	60772965	3	1	78	1	0	0	0	0	1	0	0	0	6913	1174	41	2	420	2	GTPBP5	20	60772965	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5560110	60772965	2252555	162	10307											
TIAM1	7074	broad.mit.edu	37	chr21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgggactctttctccGggctgcttgcggagacggca	15	12	2	1	rs201116117		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4399-4401)cCg>cTg		T-cell lymphoma invasion and metastasis 1							47	51	49					21																	32493062		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493062G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4400C>T	21.37:g.32493062G>A	ENSP00000286827:p.Pro1467Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	p.P1467L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4871	-			1467					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4400C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789061	0.90367	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.42131	0.98;1.01	5.14	5.14	0.70334	.	0.126543	0.53938	D	0.000041	T	0.49525	0.1562	L	0.50333	1.59	0.80722	D	1	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.51012	-0.8759	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	1407;1467	F5GZ53;Q13009	.;TIAM1_HUMAN	L	1467;1407	ENSP00000286827:P1467L;ENSP00000441570:P1407L	ENSP00000286827:P1467L	P	-	2	0	TIAM1	31414933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.421000	0.80204	2.377000	0.81083	0.655000	0.94253	CCG		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		37	221	0	0	0	1	0	37	221					A	32493062	G	A	32493062	3	1	78	1	0	0	0	0	1	0	0	0	15942	1116	39	1	379	1	TIAM1	21	32493062	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		32493062	15636833	163	10308											
TIAM1	7074	broad.mit.edu	37	chr21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtagtatccagacccCacagagaagaaaacctgctc	10	11	0	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2089-2091)tGg>tTg		T-cell lymphoma invasion and metastasis 1							185	161	169					21																	32589921		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589921C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2090G>T	21.37:g.32589921C>A	ENSP00000286827:p.Trp697Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L|TIAM1_ENST00000469412.1_5'UTR	p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2561	-			697					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2090G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906475	0.72868	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	.	0.124926	0.64402	D	0.000016	T	0.33556	0.0867	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.32573	0.101;0.061;0.376;0.104	B;B;B;B	0.30401	0.098;0.045;0.115;0.11	T	0.08953	-1.0697	10	0.46703	T	0.11	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	697;697;538;697	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	697;538;697	ENSP00000286827:W697L;ENSP00000441570:W697L	ENSP00000286827:W697L	W	-	2	0	TIAM1	31511792	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.803000	0.96430	0.655000	0.94253	TGG		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		57	368	1	0	1.27862e-28	1	1.36306e-28	57	368					A	32589921	C	A	32589921	3	1	78	1	0	0	0	0	1	0	0	0	15942	595	21	3	2765	3	TIAM1	21	32589921	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	96859	32589921	15539974	164	10309											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011719	46011719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaggtgcagcaagttGgctggcagctagactgctgg	19	7	0	1	rs202022037	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46011719G>A	ENST00000400368.1	-	1	667	c.647C>T	c.(646-648)cCa>cTa	p.P216L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	216	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCAGCAAGTTGGCTGGCAGCT	0.667													.|||	17	0.00339457	0.0106	0.0029	5008	,	,		21667	0.001		0.0	False		,,,				2504	0.0					ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(646-648)cCa>cTa		keratin associated protein 10-6							93	121	111					21																	46011719		2195	4300	6495	SO:0001583	missense	386674					keratin filament		g.chr21:46011719G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.647C>T	21.37:g.46011719G>A	ENSP00000383219:p.Pro216Leu					TSPEAR_ENST00000323084.4_Intron	p.P216L	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	667	-			216			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.647C>T	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394637	0.25205	.	.	ENSG00000188155	ENST00000400368	T	0.02158	4.42	3.12	2.23	0.28157	.	.	.	.	.	T	0.03695	0.0105	M	0.74647	2.275	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.36114	-0.9761	9	0.72032	D	0.01	.	3.9932	0.09546	0.1273:0.0:0.6351:0.2376	.	216	P60371	KR106_HUMAN	L	216	ENSP00000383219:P216L	ENSP00000383219:P216L	P	-	2	0	KRTAP10-6	44836147	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	0.690000	0.25451	0.665000	0.31066	-0.302000	0.09304	CCA		0.667	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		8	835	0	0	0	1	0	8	835					A	46011719	G	A	46011719	3	1	78	1	0	0	0	0	1	0	0	0	8543	1348	47	2	454	2	KRTAP10-6	21	46011719	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	13421798	46011719	2118176	165	10310											
COL18A1	80781	broad.mit.edu	37	chr21	46932271	46932271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccatcacgcctacatcGtgctctgcattgagaacagc	9	14	2	1	rs573442861		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46932271G>A	ENST00000359759.4	+	41	5245	c.5224G>A	c.(5224-5226)Gtg>Atg	p.V1742M	COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1742	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCCTACATCGTGCTCTGCAT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14990	0.001		0.0	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(5224-5226)Gtg>Atg		collagen, type XVIII, alpha 1							26	30	29					21																	46932271		2118	4224	6342	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932271G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5224G>A	21.37:g.46932271G>A	ENSP00000352798:p.Val1742Met					COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M	p.V1742M			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	41	5245	+			1742			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.5224G>A		.	.	.	.	.	.	.	.	.	.	G	16.15	3.041922	0.55003	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.41	3.52	0.40303	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.85682	U	0.000000	T	0.77418	0.4127	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.80417	-0.1391	10	0.87932	D	0	.	10.9067	0.47084	0.0934:0.0:0.9066:0.0	.	1742;1324;1507;1327	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	M	1327;1327;1507;1742;1742;675	ENSP00000383191:V1327M;ENSP00000347665:V1507M;ENSP00000352798:V1742M;ENSP00000339118:V675M	ENSP00000339118:V675M	V	+	1	0	COL18A1	45756699	1.000000	0.71417	0.357000	0.25798	0.012000	0.07955	5.167000	0.64972	1.005000	0.39183	0.549000	0.68633	GTG		0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	107	0	0	0	1	0	7	107					A	46932271	G	A	46932271	3	1	78	1	0	0	0	0	1	0	0	0	3684	1145	40	1	5495	1	COL18A1	21	46932271	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	920552	46932271	1197624	166	10311											
CELSR1	9620	broad.mit.edu	37	chr22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggcactgagcgggcccGgattgcgcccctggtcgttg	16	14	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1306-1308)cCg>cGg		cadherin, EGF LAG seven-pass G-type receptor 1							45	28	34					22																	46931761		2202	4294	6496	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931761G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1307C>G	22.37:g.46931761G>C	ENSP00000262738:p.Pro436Arg					CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1306	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	436			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1307C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585708	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.51574	0.7;0.7	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.68072	0.2961	M	0.78637	2.42	0.39149	D	0.96218	D	0.89917	1.0	D	0.97110	1.0	T	0.74137	-0.3762	10	0.66056	D	0.02	.	13.7659	0.62995	0.0:0.0:0.8449:0.1551	.	436	Q9NYQ6	CELR1_HUMAN	R	436	ENSP00000262738:P436R;ENSP00000379293:P436R	ENSP00000262738:P436R	P	-	2	0	CELSR1	45310425	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	9.205000	0.95048	0.943000	0.37553	0.462000	0.41574	CCG		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		20	95	0	0	0	1	0	20	95					C	46931761	G	C	46931761	3	2	78	1	0	0	0	0	1	0	0	0	3230	1116	39	5	7877	5	CELSR1	22	46931761	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		46931761	4372805	167	10312											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	252	0	0	0	1	0	5	252					C	73811938	G	C	73811938	2	2	78	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		73811938	81458622	168	10313											
PCDH11X	27328	broad.mit.edu	37	chrX	91132649	91132649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagttttcacccagtctttCgtaactgtttctattcctga	5	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(1408-1410)ttC>ttT		protocadherin 11 X-linked							63	57	59					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132649C>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.1410C>T	X.37:g.91132649C>T						PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F	p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2255	+			470			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1410C>T	CCDS14461.1																																																																																				0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		145	78	0	0	0	1	0	145	78					T	91132649	C	T	91132649	2	4	78	1	0	0	0	0	0	0	0	1	11550	883	31	1		1	PCDH11X	23	91132649	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	17320711	91132649	64137911	169	10314											
KIAA1210	57481	broad.mit.edu	37	chrX	118284525	118284525	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagagaagcctcgaggCgtccagccggccctcatttc	12	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652																																						ENST00000402510.2																			1	Substitution - coding silent(1)	p.T6T(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(16-18)acG>acT		KIAA1210							57	66	63					X																	118284525		2017	4144	6161	SO:0001819	synonymous_variant	57481							g.chrX:118284525C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.18G>T	X.37:g.118284525C>A							p.T6T	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			1	17	-			6					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.18G>T	CCDS48156.1																																																																																				0.652	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		129	66	1	0	7.61991e-58	1	8.27933e-58	129	66					A	118284525	C	A	118284525	2	1	78	1	0	0	0	0	0	0	0	1	8244	755	27	3		3	KIAA1210	23	118284525	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	27151876	118284525	36986035	170	10315											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	73						7	73	---	---	---	---	-	152087572	GAG	-	152087570	7	5	78	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-HZ-A9TJ-01A-11D-A40W-08	33803045	152087570	3182990	171	10316											
L1CAM	3897	broad.mit.edu	37	chrX	153138054	153138054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagatcactcactgcacttCgggcttgccactggcctcac	9	15	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCACTTCGGGCTTGCCA	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)Gaa>Caa		L1 cell adhesion molecule							91	70	77					X																	153138054		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153138054C>G	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.190G>C	X.37:g.153138054C>G	ENSP00000359077:p.Glu64Gln					L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	p.E64Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			4	379	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		64			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.190G>C	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329577	0.24167	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.69	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182154	0.37095	N	0.002256	T	0.11196	0.0273	N	0.21240	0.645	0.09310	N	1	B;B;B	0.18741	0.03;0.008;0.01	B;B;B	0.30179	0.112;0.046;0.076	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.9763	0.64275	0.0:0.3682:0.6318:0.0	.	59;64;64	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Q	64;66;64;66;59;59;64;64;59;59;64	ENSP00000359077:E64Q;ENSP00000438430:E66Q;ENSP00000359074:E64Q;ENSP00000439645:E66Q;ENSP00000354712:E59Q;ENSP00000359072:E59Q;ENSP00000355380:E64Q;ENSP00000402407:E64Q;ENSP00000384902:E59Q;ENSP00000392524:E59Q;ENSP00000396079:E64Q	ENSP00000355380:E64Q	E	-	1	0	L1CAM	152791248	0.001000	0.12720	0.195000	0.23364	0.913000	0.54294	-0.399000	0.07250	0.066000	0.16515	0.529000	0.55759	GAA		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		64	146	0	0	0	1	0	64	146					G	153138054	C	G	153138054	3	3	78	1	0	0	0	0	1	0	0	0	8619	893	31	5	3687	5	L1CAM	23	153138054	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	1050484	153138054	2132506	172	10317											
SAMD11	148398	broad.mit.edu	37	chr1	879470	879470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggtcaaacttcacccaaGcaggagaatgggaccttggc	12	12	2	1	rs575654453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	661					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1981-1983)aaG>aaT		sterile alpha motif domain containing 11							55	63	60					1																	879470		2203	4300	6503	SO:0001583	missense	148398					nucleus		g.chr1:879470G>T	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1983G>T	1.37:g.879470G>T	ENSP00000342313:p.Lys661Asn						p.K661N	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	2066	+	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)	661					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.1983G>T	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737742|2.737742	0.49045|0.49045	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000342066|ENST00000341065;ENST00000455979	.|.	.|.	.|.	5.05|5.05	-2.44|-2.44	0.06502|0.06502	.|.	0.060271|.	0.64402|.	D|.	0.000004|.	T|T	0.65974|0.65974	0.2743|0.2743	M|M	0.66939|0.66939	2.045|2.045	0.51482|0.51482	D|D	0.99992|0.99992	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.50659|.	0.647;0.541|.	T|T	0.65240|0.65240	-0.6216|-0.6216	9|5	0.87932|.	D|.	0|.	-16.797|-16.797	11.726|11.726	0.51710|0.51710	0.4417:0.0:0.5583:0.0|0.4417:0.0:0.5583:0.0	.|.	645;661|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	N|I	661|569;521	.|.	ENSP00000342313:K661N|.	K|S	+|+	3|2	2|0	SAMD11|SAMD11	869333|869333	1.000000|1.000000	0.71417|0.71417	0.218000|0.218000	0.23776|0.23776	0.500000|0.500000	0.33767|0.33767	1.943000|1.943000	0.40253|0.40253	-0.315000|-0.315000	0.08703|0.08703	-0.300000|-0.300000	0.09419|0.09419	AAG|AGC		0.657	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		113	479	1	0	2.96211e-45	1	3.63119e-45	113	479					T	879470	G	T	879470	3	4	79	1	0	0	0	0	1	0	0	0	13866	962	34	3	2033	3	SAMD11	1	879470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		879470	248371151	1	10318											
NOC2L	26155	broad.mit.edu	37	chr1	892379	892379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcttctccttcctcCgctccatcctcctcctcact	1	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127					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)			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)		CTCCTTCCTCCGCTCCATCCT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(379-381)gcG>gcA		nucleolar complex associated 2 homolog (S. cerevisiae)							126	130	129					1																	892379		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892379C>T	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.381G>A	1.37:g.892379C>T						NOC2L_ENST00000487214.1_5'UTR	p.A127A	NM_015658.3	NP_056473.2	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)	4	430	-	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)	127					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.381G>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		161	569	0	0	0	1	0	161	569					T	892379	C	T	892379	2	4	79	1	0	0	0	0	0	0	0	1	10555	639	23	1		1	NOC2L	1	892379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12909	892379	248358242	2	10319											
NOC2L	26155	broad.mit.edu	37	chr1	892589	892589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggaacttgtagaactCggggtctctgtccttcagcc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	82					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)			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)		TTGTAGAACTCGGGGTCTCTG	0.592																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(244-246)Gag>Aag		nucleolar complex associated 2 homolog (S. cerevisiae)							69	74	72					1																	892589		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:892589C>T	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.244G>A	1.37:g.892589C>T	ENSP00000317992:p.Glu82Lys					NOC2L_ENST00000487214.1_5'UTR	p.E82K	NM_015658.3	NP_056473.2	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)	3	293	-	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)	82					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.244G>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401737	0.83120	.	.	ENSG00000188976	ENST00000327044	T	0.48201	0.82	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.77321	-0.2631	10	0.87932	D	0	-29.294	16.9781	0.86319	0.0:1.0:0.0:0.0	.	82;82	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	K	82	ENSP00000317992:E82K	ENSP00000317992:E82K	E	-	1	0	NOC2L	882452	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	7.297000	0.78799	2.254000	0.74563	0.558000	0.71614	GAG		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		90	336	0	0	0	1	0	90	336					T	892589	C	T	892589	3	4	79	1	0	0	0	0	1	0	0	0	10555	893	31	1	2073	1	NOC2L	1	892589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	892589	248358032	3	10320											
KLHL17	339451	broad.mit.edu	37	chr1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagctgaatggcgtcCgagacgcttgctgcaagttt	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	178					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(532-534)Cga>Tga		kelch-like family member 17							53	56	55					1																	897248		2203	4300	6503	SO:0001587	stop_gained	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:897248C>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.532C>T	1.37:g.897248C>T	ENSP00000343930:p.Arg178*						p.R178*	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	639	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	178					Q5SV94	Nonsense_Mutation	SNP	ENST00000338591.3	37	c.532C>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.236927	0.97403	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	2.01	0.26516	.	0.060359	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2287	0.31584	0.3856:0.5422:0.0:0.0722	.	.	.	.	X	178;54	.	ENSP00000343930:R178X	R	+	1	2	KLHL17	887111	1.000000	0.71417	0.639000	0.29394	0.925000	0.55904	1.054000	0.30455	0.657000	0.30906	0.561000	0.74099	CGA		0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		33	307	0	0	0	1	0	33	307					T	897248	C	T	897248	4	4	79	1	0	0	0	0	0	1	0	0	8402	644	23	1	546	1	KLHL17	1	897248	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4659	897248	248353373	4	10321											
AGRN	375790	broad.mit.edu	37	chr1	979372	979372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctccagcagacacagatCgaggaggcccgggcagggcc	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	ENST00000379370.2	+	10	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	656	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGACACAGATCGAGGAGGCCC	0.697																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1966-1968)atC>atT		agrin																																				SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:979372C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1968C>T	1.37:g.979372C>T							p.I656I	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	10	2018	+	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)	656			Kazal-like 7.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1968C>T	CCDS30551.1																																																																																				0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		13	113	0	0	0	1	0	13	113					T	979372	C	T	979372	2	4	79	1	0	0	0	0	0	0	0	1	397	874	31	1		1	AGRN	1	979372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82124	979372	248271249	5	10322											
AGRN	375790	broad.mit.edu	37	chr1	989173	989173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactttgaactgagcctgCgcactgaggccacgcagggg	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1920	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5692-5694)Cgc>Tgc		agrin							35	30	32					1																	989173		2202	4296	6498	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:989173C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5692C>T	1.37:g.989173C>T	ENSP00000368678:p.Arg1898Cys						p.R1898C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	34	5742	+	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)	1898			Laminin G-like 3.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5692C>T	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013379|2.013379	0.35511|0.35511	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.84516	.|-1.86	3.95|3.95	3.0|3.0	0.34707|0.34707	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.207151	.|0.27008	.|N	.|0.021390	D|D	0.90837|0.90837	0.7122|0.7122	M|M	0.86268|0.86268	2.805|2.805	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.87932	.|D	.|0	-29.3102|-29.3102	6.6032|6.6032	0.22712|0.22712	0.3673:0.4808:0.1519:0.0|0.3673:0.4808:0.1519:0.0	.|.	.|1898	.|O00468	.|AGRIN_HUMAN	V|C	219|1898;260	.|ENSP00000368678:R1898C	.|ENSP00000368671:R260C	A|R	+|+	2|1	0|0	AGRN|AGRN	979036|979036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	3.690000|3.690000	0.54713|0.54713	0.831000|0.831000	0.34780|0.34780	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		7	66	0	0	0	1	0	7	66					T	989173	C	T	989173	3	4	79	1	0	0	0	0	1	0	0	0	397	768	27	1	5826	1	AGRN	1	989173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	989173	248261448	6	10323											
AGRN	375790	broad.mit.edu	37	chr1	989228	989228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaggccacggagcgggCagactatgtggcactggcca	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5746-5748)gCa>gTa		agrin							53	41	45					1																	989228		2200	4298	6498	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:989228C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5747C>T	1.37:g.989228C>T	ENSP00000368678:p.Ala1916Val						p.A1916V	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	34	5797	+	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)	1916			Laminin G-like 3.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5747C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150289	0.57151	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.79653	-1.29	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184656	0.35151	N	0.003403	T	0.78761	0.4334	L	0.29908	0.895	0.50039	D	0.99984	P	0.47253	0.892	P	0.51055	0.657	T	0.77446	-0.2585	10	0.30078	T	0.28	-7.4485	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1916	O00468	AGRIN_HUMAN	V	1916;278	ENSP00000368678:A1916V	ENSP00000368671:A278V	A	+	2	0	AGRN	979091	1.000000	0.71417	0.574000	0.28523	0.013000	0.08279	7.574000	0.82434	2.042000	0.60477	0.462000	0.41574	GCA		0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		15	55	0	0	0	1	0	15	55					T	989228	C	T	989228	3	4	79	1	0	0	0	0	1	0	0	0	397	710	25	2	5881	2	AGRN	1	989228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	989228	248261393	7	10324											
C1orf159	54991	broad.mit.edu	37	chr1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggagctaatgaagaAcgtgcccaggaagagggagg	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000379339.1	-	9	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	153						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627																																						ENST00000448924.1																			0											c.(457-459)Ttc>Ctc		chromosome 1 open reading frame 159							63	63	63					1																	1021354		2203	4300	6503	SO:0001583	missense	54991					integral to membrane		g.chr1:1021354A>G	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.457T>C	1.37:g.1021354A>G	ENSP00000368644:p.Phe153Leu					C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.F153L	p.F153L			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	888	-	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)	153					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.457T>C		.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063333	0.07273	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	0.953	0.19590	.	0.327541	0.30392	N	0.009729	T	0.16342	0.0393	N	0.05574	-0.02	0.23435	N	0.997682	B;B;B;B;B	0.25772	0.004;0.134;0.003;0.035;0.004	B;B;B;B;B	0.28139	0.004;0.086;0.006;0.086;0.004	T	0.23511	-1.0186	9	0.23302	T	0.38	-0.9141	7.575	0.27931	0.5555:0.0:0.4445:0.0	.	117;153;117;117;117	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	L	153;153;117;117;117;117;117;128;117	.	ENSP00000294576:F117L	F	-	1	0	C1orf159	1011217	0.906000	0.30813	0.004000	0.12327	0.027000	0.11550	1.415000	0.34748	-0.073000	0.12842	0.402000	0.26972	TTC		0.627	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		17	180	0	0	0	1	0	17	180					G	1021354	A	G	1021354	3	3	79	1	0	0	0	0	1	0	0	0	2015	43	2	4	263	4	C1orf159	1	1021354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32126	1021354	248229267	8	10325											
TTLL10	254173	broad.mit.edu	37	chr1	1115463	1115463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggaggagggactccgGtgtcagccaagccagccaga	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Silent_p.R83R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	83					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(247-249)cgG>cgA		tubulin tyrosine ligase-like family, member 10							25	30	29					1																	1115463		2198	4294	6492	SO:0001819	synonymous_variant	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1115463G>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.249G>A	1.37:g.1115463G>A						TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R	p.R83R			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	422	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	83					B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	c.249G>A	CCDS44036.1																																																																																				0.701	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		28	78	0	0	0	1	0	28	78					A	1115463	G	A	1115463	2	1	79	1	0	0	0	0	0	0	0	1	16777	1248	44	2		2	TTLL10	1	1115463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94109	1115463	248135158	9	10326											
SDF4	51150	broad.mit.edu	37	chr1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttggcctcgttcagcGcgttgtactcgttcatgggg	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	315	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(943-945)gCg>gTg		stromal cell derived factor 4							146	147	146					1																	1153037		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1153037G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.944C>T	1.37:g.1153037G>A	ENSP00000353094:p.Ala315Val					SDF4_ENST00000263741.7_3'UTR	p.A315V			Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1206	-	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)	315			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.944C>T	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	g	36	5.899314	0.97081	.	.	ENSG00000078808	ENST00000360001	T	0.09073	3.02	5.33	5.33	0.75918	EF-hand-like domain (1);	0.050815	0.85682	D	0.000000	T	0.30386	0.0763	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.01858	-1.1259	10	0.87932	D	0	-28.0616	18.0268	0.89271	0.0:0.0:1.0:0.0	.	315	Q9BRK5	CAB45_HUMAN	V	315	ENSP00000353094:A315V	ENSP00000353094:A315V	A	-	2	0	SDF4	1142900	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.440000	0.97547	2.498000	0.84270	0.479000	0.44913	GCG		0.652	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		113	478	0	0	0	1	0	113	478					A	1153037	G	A	1153037	3	1	79	1	0	0	0	0	1	0	0	0	14012	1087	38	1	148	1	SDF4	1	1153037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37574	1153037	248097584	10	10327											
SDF4	51150	broad.mit.edu	37	chr1	1154014	1154014	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcttgtcaccgtcctggtCtgcgagacgggaatgggtca	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000360001.6	-	6	999		c.e6-1		SDF4_ENST00000263741.7_Splice_Site			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677																																						ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.e6-1		stromal cell derived factor 4							75	78	77					1																	1154014		2203	4300	6503	SO:0001630	splice_region_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154014C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.737-1G>A	1.37:g.1154014C>T						SDF4_ENST00000360001.6_Splice_Site		NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	6	1029	-	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)						B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Splice_Site	SNP	ENST00000360001.6	37		CCDS30553.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668782	0.29604	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000403997	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2798	0.82670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDF4	1143877	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	6.972000	0.76110	2.058000	0.61347	0.305000	0.20034	.		0.677	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176	Intron	45	302	0	0	0	1	0	45	302					T	1154014	C	T	1154014	5	4	79	1	0	0	0	0	0	0	1	0	14012	927	32	2	476	2	SDF4	1	1154014	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977	1154014	248096607	11	10328											
UBE2J2	118424	broad.mit.edu	37	chr1	1191433	1191433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctttcttacctccacgaCttcaggaaataattcacaaa	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1191433C>T	ENST00000349431.6	-	6	706	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	UBE2J2_ENST00000347370.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000491779.1_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	163					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACCTCCACGACTTCAGGAAAT	0.418																																						ENST00000347370.2																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(331-333)Gtc>Atc		ubiquitin-conjugating enzyme E2, J2							117	125	122					1																	1191433		2203	4300	6503	SO:0001583	missense	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1191433C>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.487G>A	1.37:g.1191433C>T	ENSP00000305826:p.Val163Ile					UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V163I	p.V111I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	6	804	-	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)	163					A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.331G>A	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018605	0.07959	.	.	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930;ENST00000435198	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme/RWD-like (2);	0.056483	0.64402	D	0.000001	T	0.29256	0.0728	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.12268	-1.0554	10	0.08837	T	0.75	-2.9587	18.5607	0.91098	0.0:1.0:0.0:0.0	.	111;179;163;196	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	111;163;128;111;111;163;179;163	ENSP00000344857:V111I;ENSP00000305826:V163I;ENSP00000340197:V128I;ENSP00000342541:V111I;ENSP00000383718:V111I;ENSP00000353653:V163I;ENSP00000383719:V179I;ENSP00000393301:V163I	ENSP00000340197:V128I	V	-	1	0	UBE2J2	1181296	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.091000	0.57700	2.638000	0.89438	0.655000	0.94253	GTC		0.418	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		10	583	0	0	0	1	0	10	583					T	1191433	C	T	1191433	3	4	79	1	0	0	0	0	1	0	0	0	16915	565	20	2	300	2	UBE2J2	1	1191433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37419	1191433	248059188	12	10329											
UBE2J2	118424	broad.mit.edu	37	chr1	1203315	1203315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcttaatgcgaaggtagtCctgcttcagcctctgggttg	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1203315C>A	ENST00000349431.6	-	2	277	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000491779.1_Intron	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	20					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAAGGTAGTCCTGCTTCAGC	0.572																																						ENST00000349431.6																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(58-60)Gac>Tac		ubiquitin-conjugating enzyme E2, J2							246	263	257					1																	1203315		2203	4300	6503	SO:0001583	missense	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1203315C>A	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.58G>T	1.37:g.1203315C>A	ENSP00000305826:p.Asp20Tyr					UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron	p.D20Y	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	2	277	-	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)	20					A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.58G>T	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474331	0.84640	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.42	4.51	0.55191	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042455	0.85682	D	0.000000	T	0.73102	0.3544	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.79512	-0.1773	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.9224:0.0:0.0776	.	20;20	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	Y	20	ENSP00000305826:D20Y;ENSP00000353653:D20Y;ENSP00000383719:D20Y;ENSP00000393301:D20Y;ENSP00000401898:D20Y;ENSP00000424342:D20Y	ENSP00000305826:D20Y	D	-	1	0	UBE2J2	1193178	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.022000	0.76431	1.428000	0.47296	0.655000	0.94253	GAC		0.572	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		30	1803	1	0	1.5739e-10	1	1.67034e-10	30	1803					A	1203315	C	A	1203315	3	1	79	1	0	0	0	0	1	0	0	0	16915	855	30	3	797	3	UBE2J2	1	1203315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11882	1203315	248047306	13	10330											
SCNN1D	6339	broad.mit.edu	37	chr1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgcgtcccaggccgAgtccggtcctccgccatctg	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	142					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCAGGCCGAGTCCGGTCCT	0.657																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(424-426)Agt>Ggt		sodium channel, non-voltage-gated 1, delta subunit							27	31	30					1																	1222152		2190	4290	6480	SO:0001583	missense	6339							g.chr1:1222152A>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.424A>G	1.37:g.1222152A>G	ENSP00000339504:p.Ser142Gly					SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G	p.S142G						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	5	1568	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.424A>G		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604653	0.28623	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.55	-3.62	0.04543	.	4.620690	0.00508	N	0.000170	T	0.62344	0.2420	M	0.67700	2.07	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.18263	0.021;0.001	T	0.49753	-0.8906	10	0.62326	D	0.03	.	4.761	0.13108	0.3933:0.2998:0.3069:0.0	.	142;306	P51172;A6NNF7	SCNND_HUMAN;.	G	173;306;142;208;142	ENSP00000368411:S306G;ENSP00000339504:S142G;ENSP00000321594:S208G;ENSP00000383717:S142G	ENSP00000321594:S208G	S	+	1	0	SCNN1D	1212015	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.332000	0.07904	-0.461000	0.06993	0.260000	0.18958	AGT		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		39	170	0	0	0	1	0	39	170					G	1222152	A	G	1222152	3	3	79	1	0	0	0	0	1	0	0	0	13979	304	11	4	640	4	SCNN1D	1	1222152	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18837	1222152	248028469	14	10331											
SCNN1D	6339	broad.mit.edu	37	chr1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggctactacctccacCctctgccggcgggggctgag	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	413					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTACCTCCACCCTCTGCCGGC	0.667																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1237-1239)Cct>Tct		sodium channel, non-voltage-gated 1, delta subunit							41	42	42					1																	1225717		2189	4291	6480	SO:0001583	missense	6339							g.chr1:1225717C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1237C>T	1.37:g.1225717C>T	ENSP00000339504:p.Pro413Ser					SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S|SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S	p.P413S						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	10	2381	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1237C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.14|14.14	2.447329|2.447329	0.43429|0.43429	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.72942	.|-0.65;-0.7;-0.69;-0.7	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	0.484380|0.484380	0.16350|0.16350	U|U	0.218259|0.218259	D|D	0.83862|0.83862	0.5346|0.5346	M|M	0.87381|0.87381	2.88|2.88	0.28260|0.28260	N|N	0.92488|0.92488	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.976	T|T	0.75485|0.75485	-0.3301|-0.3301	6|10	.|0.87932	.|D	.|0	.|.	10.4602|10.4602	0.44575|0.44575	0.0:0.8003:0.1997:0.0|0.0:0.8003:0.1997:0.0	.|.	.|235;413;577	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	L|S	229|444;577;413;479;413	.|ENSP00000368411:P577S;ENSP00000339504:P413S;ENSP00000321594:P479S;ENSP00000383717:P413S	.|ENSP00000321594:P479S	P|P	+|+	2|1	0|0	SCNN1D|SCNN1D	1215580|1215580	0.990000|0.990000	0.36364|0.36364	0.093000|0.093000	0.20910|0.20910	0.012000|0.012000	0.07955|0.07955	2.636000|2.636000	0.46545|0.46545	1.302000|1.302000	0.44855|0.44855	0.306000|0.306000	0.20318|0.20318	CCC|CCT		0.667	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		33	277	0	0	0	1	0	33	277					T	1225717	C	T	1225717	3	4	79	1	0	0	0	0	1	0	0	0	13979	623	22	2	1473	2	SCNN1D	1	1225717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3565	1225717	248024904	15	10332											
SCNN1D	6339	broad.mit.edu	37	chr1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggatggactctggccaCgctaggtgaacaggggctgc	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	481					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCTGGCCACGCTAGGTGAA	0.672																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1441-1443)aCg>aTg		sodium channel, non-voltage-gated 1, delta subunit							30	27	28					1																	1226291		2170	4279	6449	SO:0001583	missense	6339							g.chr1:1226291C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1442C>T	1.37:g.1226291C>T	ENSP00000339504:p.Thr481Met					SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M	p.T481M						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	13	2586	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1442C>T		.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056654	0.01965	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69306	-0.39;-0.36;-0.37;-0.36	3.0	-1.54	0.08584	.	6.272650	0.00772	U	0.001219	T	0.32556	0.0833	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.28998	0.093;0.023;0.23	B;B;B	0.23018	0.043;0.031;0.005	T	0.26360	-1.0105	10	0.11182	T	0.66	.	2.3034	0.04168	0.2442:0.366:0.0:0.3898	.	303;481;645	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	M	512;645;481;547;481	ENSP00000368411:T645M;ENSP00000339504:T481M;ENSP00000321594:T547M;ENSP00000383717:T481M	ENSP00000321594:T547M	T	+	2	0	SCNN1D	1216154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.041000	0.12084	-0.035000	0.13691	0.306000	0.20318	ACG		0.672	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		14	61	0	0	0	1	0	14	61					T	1226291	C	T	1226291	3	4	79	1	0	0	0	0	1	0	0	0	13979	536	19	1	1690	1	SCNN1D	1	1226291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	1226291	248024330	16	10333											
CPSF3L	54973	broad.mit.edu	37	chr1	1255909	1255909	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagtcagggaagcgtcGctaggaaggatgtgggggtt	20	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000435064.1	-	3	209	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.e5-1		cleavage and polyadenylation specific factor 3-like							154	152	153					1																	1255909		2203	4300	6503	SO:0001630	splice_region_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1255909G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.127-1C>T	1.37:g.1255909G>A						CPSF3L_ENST00000435064.1_Splice_Site_p.R43_splice|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_Splice_Site_p.R14_splice|CPSF3L_ENST00000450926.2_Splice_Site_p.R43_splice|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron	p.R49_splice	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	5	600	-	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)	43					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Splice_Site	SNP	ENST00000435064.1	37	c.144_splice	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526940	0.44969	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.73	0.793	0.18632	.	0.048715	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-53.2948	13.2437	0.60012	0.0:0.0:0.5864:0.4136	.	.	.	.	X	43;55;49;43;14;43;49;90;44;103	.	ENSP00000294579:R55X	R	-	1	2	CPSF3L	1245772	1.000000	0.71417	0.930000	0.37139	0.223000	0.24884	1.562000	0.36353	-0.130000	0.11599	-0.269000	0.10298	CGA		0.607	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	Nonsense_Mutation	119	415	0	0	0	1	0	119	415					A	1255909	G	A	1255909	5	1	79	1	0	0	0	0	0	0	1	0	3836	1101	38	1	1735	1	CPSF3L	1	1255909	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29618	1255909	247994712	17	10334											
TAS1R3	83756	broad.mit.edu	37	chr1	1268422	1268422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggcagggctcagtgcCcaggctccacgacgtgggca	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1268422C>T	ENST00000339381.5	+	4	1429	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	466					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGCTCAGTGCCCAGGCTCCAC	0.647																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1396-1398)cCc>cTc		taste receptor, type 1, member 3	Aspartame(DB00168)						55	52	53					1																	1268422		2199	4296	6495	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268422C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1397C>T	1.37:g.1268422C>T	ENSP00000344411:p.Pro466Leu						p.P466L	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	4	1429	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	466					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1397C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	3.907	-0.020795	0.07634	.	.	ENSG00000169962	ENST00000339381	D	0.85339	-1.97	4.86	1.91	0.25777	.	1.236210	0.05356	N	0.532752	T	0.69486	0.3116	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.55425	-0.8143	10	0.16420	T	0.52	.	6.7099	0.23272	0.0:0.6539:0.1314:0.2147	.	466	Q7RTX0	TS1R3_HUMAN	L	466	ENSP00000344411:P466L	ENSP00000344411:P466L	P	+	2	0	TAS1R3	1258285	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.214000	0.17541	0.471000	0.27319	0.456000	0.33151	CCC		0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			5	200	0	0	0	1	0	5	200					T	1268422	C	T	1268422	3	4	79	1	0	0	0	0	1	0	0	0	15616	623	22	2	1411	2	TAS1R3	1	1268422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12513	1268422	247982199	18	10335											
TAS1R3	83756	broad.mit.edu	37	chr1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgctcatgcggcagccaGggctcaacacccccgagttc	10	17	2	0	rs200098251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	822					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCGGCAGCCAGGGCTCAACAC	0.642																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(2464-2466)Ggg>Tgg		taste receptor, type 1, member 3	Aspartame(DB00168)						22	24	24					1																	1269749		2195	4295	6490	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269749G>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2464G>T	1.37:g.1269749G>T	ENSP00000344411:p.Gly822Trp						p.G822W	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	2496	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	822					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.2464G>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087578	0.20390	.	.	ENSG00000169962	ENST00000339381	D	0.88896	-2.44	4.59	-2.82	0.05787	GPCR, family 3, C-terminal (1);	1.629200	0.03282	N	0.186320	D	0.83041	0.5168	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.73975	-0.3813	10	0.72032	D	0.01	.	7.2296	0.26034	0.2315:0.2324:0.5361:0.0	.	822	Q7RTX0	TS1R3_HUMAN	W	822	ENSP00000344411:G822W	ENSP00000344411:G822W	G	+	1	0	TAS1R3	1259612	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	0.984000	0.29565	-0.314000	0.08716	0.456000	0.33151	GGG		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			16	91	1	0	4.7546e-09	1	4.99022e-09	16	91					T	1269749	G	T	1269749	3	4	79	1	0	0	0	0	1	0	0	0	15616	1000	35	3	2486	3	TAS1R3	1	1269749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	1269749	247980872	19	10336											
DVL1	1855	broad.mit.edu	37	chr1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A													gggctgctgccacggctgagCtggccggccggacgctctcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	623					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1867-1869)caG>caT		dishevelled segment polarity protein 1							9	10	10					1																	1271741		1872	3800	5672	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271741C>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1869G>T	1.37:g.1271741C>A	ENSP00000368166:p.Gln623His					DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H	p.Q623H			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2153	-	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)	623					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1869G>T		.	.	.	.	.	.	.	.	.	.	C	11.40	1.627896	0.28978	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.5	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47190	1.495	0.43114	D	0.994829	D;D;D	0.67145	0.995;0.996;0.994	D;D;D	0.81914	0.989;0.995;0.991	T	0.00473	-1.1718	10	0.48119	T	0.1	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	281;623;598	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	H	598;623;372;281	ENSP00000368169:Q598H;ENSP00000368166:Q623H	ENSP00000263743:Q281H	Q	-	3	2	DVL1	1261604	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.953000	0.40352	2.607000	0.88179	0.555000	0.69702	CAG		0.741	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		22	101	1	0	5.35356e-11	1	5.69577e-11	22	101					A	1271741	C	A	1271741	3	1	79	1	0	0	0	0	1	0	0	0	4851	796	28	3	222	3	DVL1	1	1271741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	1271741	247978880	20	10337	68	2									
DVL1	1855	broad.mit.edu	37	chr1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A													cacggctgagctggccggccGgacgctctcgccagctgctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	620					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1858-1860)cCg>cTg		dishevelled segment polarity protein 1							11	12	11					1																	1271751		1932	3905	5837	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271751G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1859C>T	1.37:g.1271751G>A	ENSP00000368166:p.Pro620Leu					DVL1_ENST00000378891.5_Missense_Mutation_p.P595L	p.P620L			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2143	-	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)	620					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1859C>T		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338007	0.41398	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.48	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.187522	0.47852	D	0.000217	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.977	D;P;P	0.83275	0.996;0.765;0.654	T	0.01345	-1.1379	10	0.56958	D	0.05	.	18.2311	0.89934	0.0:0.0:1.0:0.0	.	278;620;595	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	L	595;620;369;278	ENSP00000368169:P595L;ENSP00000368166:P620L	ENSP00000263743:P278L	P	-	2	0	DVL1	1261614	1.000000	0.71417	0.838000	0.33150	0.089000	0.18198	8.445000	0.90326	2.607000	0.88179	0.555000	0.69702	CCG		0.731	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		25	124	0	0	0	1	0	25	124					A	1271751	G	A	1271751	3	1	79	1	0	0	0	0	1	0	0	0	4851	1116	39	1	232	1	DVL1	1	1271751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	1271751	247978870	21	10338	68	2									
DVL1	1855	broad.mit.edu	37	chr1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgggctcgatgcggcCgtcagcggccacagccccgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	293	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(877-879)Ggc>Agc		dishevelled segment polarity protein 1							39	44	42					1																	1275450		2201	4298	6499	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275450C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.877G>A	1.37:g.1275450C>T	ENSP00000368166:p.Gly293Ser					DVL1_ENST00000378891.5_Missense_Mutation_p.G293S	p.G293S			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	1161	-	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)	293			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.877G>A		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643377	0.67244	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.60548	0.18;0.18	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.117824	0.56097	D	0.000023	T	0.81143	0.4761	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.921;0.991	D	0.87372	0.2351	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	293;293	O14640;O14640-2	DVL1_HUMAN;.	S	293	ENSP00000368169:G293S;ENSP00000368166:G293S	ENSP00000368166:G293S	G	-	1	0	DVL1	1265313	1.000000	0.71417	0.892000	0.35008	0.156000	0.22039	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GGC		0.647	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		35	328	0	0	0	1	0	35	328					T	1275450	C	T	1275450	3	4	79	1	0	0	0	0	1	0	0	0	4851	652	23	1	1167	1	DVL1	1	1275450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3699	1275450	247975171	22	10339											
DVL1	1855	broad.mit.edu	37	chr1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaaggcgctgcttcctcCgccggcgtttgtgcttccgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(667-669)cGg>cAg		dishevelled segment polarity protein 1							33	40	38					1																	1275821		2195	4294	6489	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275821C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.668G>A	1.37:g.1275821C>T	ENSP00000368166:p.Arg223Gln					DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q	p.R223Q			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	952	-	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)	223			Poly-Arg.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.668G>A		.	.	.	.	.	.	.	.	.	.	C	18.61	3.661443	0.67700	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.06687	3.33;3.27	3.79	3.79	0.43588	.	0.064020	0.64402	D	0.000008	T	0.27419	0.0673	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.04522	-1.0945	10	0.54805	T	0.06	.	16.225	0.82285	0.0:1.0:0.0:0.0	.	223	O14640-2	.	Q	223	ENSP00000368169:R223Q;ENSP00000368166:R223Q	ENSP00000368166:R223Q	R	-	2	0	DVL1	1265684	1.000000	0.71417	0.955000	0.39395	0.616000	0.37450	7.146000	0.77373	2.127000	0.65507	0.306000	0.20318	CGG		0.667	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		9	105	0	0	0	1	0	9	105					T	1275821	C	T	1275821	3	4	79	1	0	0	0	0	1	0	0	0	4851	652	23	1	1384	1	DVL1	1	1275821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	1275821	247974800	23	10340											
ATAD3C	219293	broad.mit.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(10-12)gaC>gaT		ATPase family, AAA domain containing 3C							31	28	29					1																	1386075		692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1386075C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T							p.D4D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	1007	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	4					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.12C>T	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		6	103	0	0	0	1	0	6	103					T	1386075	C	T	1386075	2	4	79	1	0	0	0	0	0	0	0	1	1076	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	1386075	247864546	24	10341											
ATAD3C	219293	broad.mit.edu	37	chr1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgtcccgcatcacggtgCttgaggcgctgcggcacccc	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(352-354)Ctt>Att		ATPase family, AAA domain containing 3C							24	39	35					1																	1389854		692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389854C>A	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.352C>A	1.37:g.1389854C>A	ENSP00000368062:p.Leu118Ile						p.L118I	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	1347	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	118					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.352C>A	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437772	0.12104	.	.	ENSG00000215915	ENST00000378785	D	0.94280	-3.39	2.51	1.4	0.22301	.	0.515223	0.20329	N	0.094461	D	0.89259	0.6664	M	0.62723	1.935	0.32744	N	0.50728	B	0.23442	0.085	B	0.18561	0.022	D	0.86832	0.2011	10	0.40728	T	0.16	.	6.6244	0.22820	0.0:0.817:0.0:0.183	.	118	Q5T2N8	ATD3C_HUMAN	I	118	ENSP00000368062:L118I	ENSP00000368062:L118I	L	+	1	0	ATAD3C	1379717	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	2.244000	0.43124	1.224000	0.43551	0.195000	0.17529	CTT		0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		11	75	1	0	3.86212e-05	1	3.93988e-05	11	75					A	1389854	C	A	1389854	3	1	79	1	0	0	0	0	1	0	0	0	1076	797	28	3	366	3	ATAD3C	1	1389854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3779	1389854	247860767	25	10342											
ATAD3A	55210	broad.mit.edu	37	chr1	1455928	1455928	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccactgctttccccgcagGacggctggcaccttgtttgg	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000536055.1_Splice_Site_p.R148R|ATAD3A_ENST00000378756.3_Splice_Site_p.R227R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	275					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e7-1		ATPase family, AAA domain containing 3A							111	94	100					1																	1455928		2203	4298	6501	SO:0001630	splice_region_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1455928G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.825-1G>A	1.37:g.1455928G>A						ATAD3A_ENST00000378756.3_Splice_Site_p.R227_splice|ATAD3A_ENST00000536055.1_Splice_Site_p.R148_splice	p.R275_splice	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	7	919	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	275					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Splice_Site	SNP	ENST00000378755.5	37	c.824_splice	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	9.381	1.073035	0.20147	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71702	-0.4513	4	.	.	.	.	16.3539	0.83228	0.0:0.0:1.0:0.0	.	.	.	.	N	213	.	.	D	+	1	0	ATAD3A	1445791	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.720000	0.84759	2.185000	0.69588	0.561000	0.74099	GAC		0.587	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188	Silent	102	319	0	0	0	1	0	102	319					A	1455928	G	A	1455928	5	1	79	1	0	0	0	0	0	0	1	0	1074	1188	41	2	851	2	ATAD3A	1	1455928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66074	1455928	247794693	26	10343											
ATAD3A	55210	broad.mit.edu	37	chr1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtcgaccccaggacGcgctggagggtgttgtgctc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	362					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1084-1086)Gcg>Acg		ATPase family, AAA domain containing 3A							51	50	50					1																	1458924		2203	4300	6503	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1458924G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1084G>A	1.37:g.1458924G>A	ENSP00000368030:p.Ala362Thr					ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T|ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T	p.A362T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	9	1178	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	362					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1084G>A	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.99|11.99	1.803877|1.803877	0.31869|0.31869	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94497|.	-3.22;-3.08;-3.44|.	4.8|4.8	3.89|3.89	0.44902|0.44902	.|.	0.111693|.	0.64402|.	D|.	0.000011|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.85299|0.85299	2.745|2.745	0.50813|0.50813	D|D	0.999893|0.999893	P;D|.	0.59357|.	0.786;0.985|.	B;P|.	0.46253|.	0.382;0.509|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|5	0.49607|.	T|.	0.09|.	.|.	12.0841|12.0841	0.53688|0.53688	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	314;362|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|H	314;362;235|299	ENSP00000368031:A314T;ENSP00000368030:A362T;ENSP00000439290:A235T|.	ENSP00000368030:A362T|.	A|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1448787|1448787	1.000000|1.000000	0.71417|0.71417	0.724000|0.724000	0.30704|0.30704	0.023000|0.023000	0.10783|0.10783	5.587000|5.587000	0.67510|0.67510	1.025000|1.025000	0.39708|0.39708	0.556000|0.556000	0.70494|0.70494	GCG|CGC		0.711	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		29	136	0	0	0	1	0	29	136					A	1458924	G	A	1458924	3	1	79	1	0	0	0	0	1	0	0	0	1074	1087	38	1	1118	1	ATAD3A	1	1458924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	1458924	247791697	27	10344											
SLC35E2	9906	broad.mit.edu	37	chr1	1666219	1666219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtcagaagcagcagcAccacgtcctggttgtagctg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1666219A>G	ENST00000246421.4	-	5	1057	c.642T>C	c.(640-642)ggT>ggC	p.G214G	RP1-283E3.8_ENST00000598846.1_RNA|RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000400924.1_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Silent_p.G214G	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	214						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGCAGCAGCACCACGTCCTG	0.547																																						ENST00000355439.2																			0				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(640-642)ggT>ggC		solute carrier family 35, member E2							96	56	69					1																	1666219		2203	4300	6503	SO:0001819	synonymous_variant	9906					integral to membrane		g.chr1:1666219A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"Solute carriers"	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.642T>C	1.37:g.1666219A>G						RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000246421.4_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000400924.1_Silent_p.G214G	p.G214G	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1402	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	214					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Silent	SNP	ENST00000246421.4	37	c.642T>C	CCDS33.1																																																																																				0.547	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		9	164	0	0	0	1	0	9	164					G	1666219	A	G	1666219	2	3	79	1	0	0	0	0	0	0	0	1	14635	146	6	4		4	SLC35E2	1	1666219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	207295	1666219	247584402	28	10345											
SLC35E2	9906	broad.mit.edu	37	chr1	1670364	1670364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggagattctttacctcAtcagacccacaaacagcatc	5	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	ENST00000246421.4	-	3	870	c.455T>C	c.(454-456)aTg>aCg	p.M152T	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152T	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTTTACCTCATCAGACCCAC	0.473																																						ENST00000355439.2																			0				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(454-456)aTg>aCg		solute carrier family 35, member E2							25	32	30					1																	1670364		2196	4294	6490	SO:0001583	missense	9906					integral to membrane		g.chr1:1670364A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"Solute carriers"	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.455T>C	1.37:g.1670364A>G	ENSP00000246421:p.Met152Thr					SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152T|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T	p.M152T	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	1215	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	152					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	37	c.455T>C	CCDS33.1	.	.	.	.	.	.	.	.	.	.	a	12.20	1.867997	0.32977	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.92348	-3.02;-3.02;-3.02	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.110770	0.64402	U	0.000017	D	0.92169	0.7517	L	0.45352	1.415	0.30531	N	0.767464	D;D	0.63046	0.992;0.98	D;P	0.64687	0.928;0.795	D	0.87896	0.2687	10	0.28530	T	0.3	.	10.2092	0.43131	1.0:0.0:0.0:0.0	.	152;152	P0CK97;P0CK97-2	S35E2_HUMAN;.	T	152	ENSP00000347614:M152T;ENSP00000383714:M152T;ENSP00000246421:M152T	ENSP00000246421:M152T	M	-	2	0	SLC35E2	1660224	1.000000	0.71417	0.975000	0.42487	0.373000	0.29922	8.889000	0.92470	1.312000	0.45043	0.433000	0.28618	ATG		0.473	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		10	75	0	0	0	1	0	10	75					G	1670364	A	G	1670364	3	3	79	1	0	0	0	0	1	0	0	0	14635	217	8	4	1611	4	SLC35E2	1	1670364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4145	1670364	247580257	29	10346											
GNB1	2782	broad.mit.edu	37	chr1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccctgtcgccacagCcatgccatcgtcagtcacgc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	326					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(976-978)Gct>Act		guanine nucleotide binding protein (G protein), beta polypeptide 1							115	101	106					1																	1718817		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1718817C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.976G>A	1.37:g.1718817C>T	ENSP00000367872:p.Ala326Thr						p.A326T	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	11	1307	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	326					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.976G>A	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051123|6.051123	0.97236|0.97236	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.59224|.	0.28|.	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.100656|.	0.64402|.	D|.	0.000003|.	T|.	0.57169|.	0.2035|.	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|.	0.50056|.	-0.8872|.	10|.	0.31617|.	T|.	0.26|.	-16.5478|-16.5478	18.9108|18.9108	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	P62873|.	GBB1_HUMAN|.	T|X	326;226;326|183	ENSP00000367872:A326T|.	ENSP00000367869:A326T|.	A|W	-|-	1|3	0|0	GNB1|GNB1	1708677|1708677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.600000|7.600000	0.82769|0.82769	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.572	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		40	408	0	0	0	1	0	40	408					T	1718817	C	T	1718817	3	4	79	1	0	0	0	0	1	0	0	0	6544	739	26	2	50	2	GNB1	1	1718817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48453	1718817	247531804	30	10347											
GABRD	2563	broad.mit.edu	37	chr1	1956825	1956825	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggccagcatcgaccacatCtcagaggccaacatggtagg	12	12	1	1	rs576565752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGACCACATCTCAGAGGCCA	0.652																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(232-234)atC>atA		gamma-aminobutyric acid (GABA) A receptor, delta							64	67	66					1																	1956825		2203	4300	6503	SO:0001819	synonymous_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956825C>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	1.37:g.1956825C>A							p.I78I	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	317	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	78					Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.234C>A	CCDS36.1																																																																																				0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		64	519	1	0	3.95532e-38	1	4.76227e-38	64	519					A	1956825	C	A	1956825	2	1	79	1	0	0	0	0	0	0	0	1	6196	903	32	3		3	GABRD	1	1956825	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238008	1956825	247293796	31	10348											
GABRD	2563	broad.mit.edu	37	chr1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggggggcatccgtgccCggctcaggcccatcgacgca	15	16	1	0	rs200019257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	418					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCCGTGCCCGGCTCAGGCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15348	0.0		0.001	False		,,,				2504	0.0					ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1252-1254)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, delta		C	TRP/ARG	1,4403		0,1,2201	59	59	59		1252	0.4	0	1		59	0,8598		0,0,4299	no	missense	GABRD	NM_000815.4	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	418/453	1961614	1,13001	2202	4299	6501	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961614C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1252C>T	1.37:g.1961614C>T	ENSP00000367848:p.Arg418Trp						p.R418W	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1335	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	418					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1252C>T	CCDS36.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.752	0.703535	0.15172	2.27E-4	0.0	ENSG00000187730	ENST00000378585	D	0.85088	-1.94	3.82	0.383	0.16239	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.159450	0.01848	N	0.035703	T	0.68622	0.3021	N	0.08118	0	0.09310	N	0.999999	P	0.46327	0.876	B	0.34452	0.183	T	0.66143	-0.5997	10	0.72032	D	0.01	-6.4253	6.0845	0.19960	0.4046:0.4988:0.0:0.0966	.	418	O14764	GBRD_HUMAN	W	418	ENSP00000367848:R418W	ENSP00000367848:R418W	R	+	1	2	GABRD	1951474	0.065000	0.20965	0.005000	0.12908	0.110000	0.19582	1.570000	0.36439	0.241000	0.21283	-0.325000	0.08501	CGG		0.662	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		50	513	0	0	0	1	0	50	513					T	1961614	C	T	1961614	3	4	79	1	0	0	0	0	1	0	0	0	6196	643	23	1	1286	1	GABRD	1	1961614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4789	1961614	247289007	32	10349											
SKI	6497	broad.mit.edu	37	chr1	2160432	2160432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgcccgtgctgcaccTgcccgccatccagccgccgc	11	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	ENST00000378536.4	+	1	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	76					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTGCTGCACCTGCCCGCCATC	0.761																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(226-228)cTg>cCg		v-ski avian sarcoma viral oncogene homolog							4	4	4					1																	2160432		1917	3938	5855	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160432T>C	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.227T>C	1.37:g.2160432T>C	ENSP00000367797:p.Leu76Pro						p.L76P	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	299	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		76					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.227T>C	CCDS39.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685220	0.47991	.	.	ENSG00000157933	ENST00000378536	D	0.96136	-3.92	2.61	2.61	0.31194	.	0.437967	0.20248	U	0.096156	D	0.92770	0.7701	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91623	0.5312	10	0.52906	T	0.07	-7.6158	9.7448	0.40440	0.0:0.0:0.0:1.0	.	76	P12755	SKI_HUMAN	P	76	ENSP00000367797:L76P	ENSP00000367797:L76P	L	+	2	0	SKI	2150292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.193000	0.50997	1.060000	0.40578	0.323000	0.21402	CTG		0.761	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		7	40	0	0	0	1	0	7	40					C	2160432	T	C	2160432	3	2	79	1	0	0	0	0	1	0	0	0	14407	1580	55	4	229	4	SKI	1	2160432	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198818	2160432	247090189	33	10350											
SKI	6497	broad.mit.edu	37	chr1	2160862	2160862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgagcgcagcgtccgCgtgtaccacgagtgcttcgg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	219					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGCGTCCGCGTGTACCACG	0.706																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(655-657)cgC>cgT		v-ski avian sarcoma viral oncogene homolog							12	14	13					1																	2160862		2175	4273	6448	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160862C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.657C>T	1.37:g.2160862C>T							p.R219R	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	729	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		219					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.657C>T	CCDS39.1																																																																																				0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		4	99	0	0	0	1	0	4	99					T	2160862	C	T	2160862	2	4	79	1	0	0	0	0	0	0	0	1	14407	755	27	1		1	SKI	1	2160862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	2160862	247089759	34	10351											
SKI	6497	broad.mit.edu	37	chr1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggggctgctggtgcccgaGctctacagcagcccgagcgc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	235					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(703-705)gaG>gaT		v-ski avian sarcoma viral oncogene homolog							16	20	18					1																	2160910		2188	4280	6468	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160910G>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.705G>T	1.37:g.2160910G>T	ENSP00000367797:p.Glu235Asp						p.E235D	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	777	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		235					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.705G>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559203	0.65538	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.3	4.3	0.51218	SAND domain-like (2);c-SKI Smad4-binding (1);	0.061228	0.64402	D	0.000004	D	0.96636	0.8902	M	0.64997	1.995	0.54753	D	0.999982	D	0.71674	0.998	D	0.67103	0.949	D	0.95726	0.8770	10	0.30078	T	0.28	-21.7522	15.7222	0.77721	0.0:0.0:1.0:0.0	.	235	P12755	SKI_HUMAN	D	235	ENSP00000367797:E235D	ENSP00000367797:E235D	E	+	3	2	SKI	2150770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.335000	0.72949	1.934000	0.56057	0.393000	0.25936	GAG		0.682	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		35	113	1	0	5.04308e-16	1	5.52873e-16	35	113					T	2160910	G	T	2160910	3	4	79	1	0	0	0	0	1	0	0	0	14407	962	34	3	707	3	SKI	1	2160910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	2160910	247089711	35	10352											
MORN1	79906	broad.mit.edu	37	chr1	2290153	2290153	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggacccggccgctctcGccttccaggagagaggagca	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.747C>T	c.(745-747)agC>agT	p.S249S	MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	249										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCCGCTCTCGCCTTCCAGGA	0.597																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.e9-1		MORN repeat containing 1							46	44	45					1																	2290153		2202	4300	6502	SO:0001630	splice_region_variant	79906							g.chr1:2290153G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.746-1C>T	1.37:g.2290153G>A						MORN1_ENST00000378529.3_Splice_Site_p.S249_splice|MORN1_ENST00000606372.1_5'UTR	p.S249_splice	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	9	920	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	249					A6NKZ6|Q8WW30|Q9H852	Splice_Site	SNP	ENST00000378531.3	37	c.745_splice	CCDS40.1																																																																																				0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	Silent	8	80	0	0	0	1	0	8	80					A	2290153	G	A	2290153	5	1	79	1	0	0	0	0	0	0	1	0	9749	1101	38	1	770	1	MORN1	1	2290153	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129243	2290153	246960468	36	10353											
MORN1	79906	broad.mit.edu	37	chr1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccttcataacatcCgccggctttgtactccatga	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378531.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(319-321)Gga>Aga		MORN repeat containing 1							131	120	124					1																	2318897		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2318897C>T	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.319G>A	1.37:g.2318897C>T	ENSP00000367792:p.Gly107Arg					MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	p.G107R	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	4	492	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	107					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.319G>A	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279792	0.59758	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.57107	1.0;1.0;0.42	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000059	T	0.61009	0.2313	L	0.38953	1.18	0.38970	D	0.958727	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.846;0.993;0.999	T	0.58211	-0.7676	10	0.21014	T	0.42	.	14.8721	0.70465	0.0:1.0:0.0:0.0	.	83;107;107	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	R	107;107;83	ENSP00000367792:G107R;ENSP00000367790:G107R;ENSP00000367786:G83R	ENSP00000367786:G83R	G	-	1	0	MORN1	2308757	0.554000	0.26522	0.133000	0.22050	0.493000	0.33554	4.424000	0.59868	2.073000	0.62155	0.561000	0.74099	GGA		0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		43	514	0	0	0	1	0	43	514					T	2318897	C	T	2318897	3	4	79	1	0	0	0	0	1	0	0	0	9749	661	23	1	1218	1	MORN1	1	2318897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28744	2318897	246931724	37	10354											
PANK4	55229	broad.mit.edu	37	chr1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccactcacttcagccGcagcttctcttcgatgaggt	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	139					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(415-417)Cgg>Tgg		pantothenate kinase 4							85	80	82					1																	2452547		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452547G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.415C>T	1.37:g.2452547G>A	ENSP00000367727:p.Arg139Trp					PANK4_ENST00000435556.3_Intron	p.R139W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	427	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	139					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.415C>T	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225634	0.58668	.	.	ENSG00000157881	ENST00000378466	D	0.99527	-6.09	5.05	3.15	0.36227	.	1.063610	0.07258	N	0.866933	D	0.98273	0.9428	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.49301	0.606	D	0.93676	0.6994	10	0.87932	D	0	-7.9242	10.0179	0.42024	0.0:0.4167:0.4491:0.1343	.	139	Q9NVE7	PANK4_HUMAN	W	139	ENSP00000367727:R139W	ENSP00000367727:R139W	R	-	1	2	PANK4	2442407	0.112000	0.22096	0.637000	0.29366	0.859000	0.49053	2.617000	0.46385	0.510000	0.28216	-0.261000	0.10672	CGG		0.597	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			47	402	0	0	0	1	0	47	402					A	2452547	G	A	2452547	3	1	79	1	0	0	0	0	1	0	0	0	11461	1086	38	1	1974	1	PANK4	1	2452547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133650	2452547	246798074	38	10355											
MMEL1	79258	broad.mit.edu	37	chr1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcaggggactgtggaCgtctgtcttgatggattgga	15	6	3	1	rs199987335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000378412.3	-	23	2379	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I|MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	740						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(2191-2193)Gtc>Atc		membrane metallo-endopeptidase-like 1							163	155	158					1																	2523018		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2523018C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2218G>A	1.37:g.2523018C>T	ENSP00000367668:p.Val740Ile					MMEL1_ENST00000378412.3_Missense_Mutation_p.V740I|MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I	p.V731I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	23	2431	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	740					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2191G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022710	0.19433	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91068	-2.78;-2.78;-2.78	3.87	3.87	0.44632	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.205916	0.42682	D	0.000667	D	0.88753	0.6522	M	0.77313	2.365	0.41580	D	0.988738	P	0.35780	0.52	B	0.30029	0.11	D	0.89714	0.3914	10	0.54805	T	0.06	-42.3512	12.6873	0.56954	0.0:1.0:0.0:0.0	.	740	Q495T6	MMEL1_HUMAN	I	583;731;740;583	ENSP00000288709:V731I;ENSP00000367668:V740I;ENSP00000422492:V583I	ENSP00000288709:V731I	V	-	1	0	MMEL1	2512878	0.992000	0.36948	0.832000	0.32986	0.084000	0.17831	3.089000	0.50183	1.990000	0.58119	0.561000	0.74099	GTC		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		172	652	0	0	0	1	0	172	652					T	2523018	C	T	2523018	3	4	79	1	0	0	0	0	1	0	0	0	9687	536	19	1	129	1	MMEL1	1	2523018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70471	2523018	246727603	39	10356											
MMEL1	79258	broad.mit.edu	37	chr1	2524320	2524320	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagttgccgtactggtagatCatgcactctgactgctcccg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2524320C>A	ENST00000378412.3	-	20	2114	c.1953G>T	c.(1951-1953)atG>atT	p.M651I	MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I|MMEL1_ENST00000288709.6_Missense_Mutation_p.M642I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	651						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTGGTAGATCATGCACTCTG	0.607																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1924-1926)atG>atT		membrane metallo-endopeptidase-like 1							133	104	113					1																	2524320		2202	4300	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524320C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1953G>T	1.37:g.2524320C>A	ENSP00000367668:p.Met651Ile					MMEL1_ENST00000378412.3_Missense_Mutation_p.M651I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I	p.M642I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	20	2166	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	651					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1926G>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839532	0.51057	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90133	-2.62;-2.62;-2.62	4.76	4.76	0.60689	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	N	0.12502	0.225	0.80722	D	1	P	0.37824	0.609	P	0.45881	0.496	D	0.83569	0.0111	10	0.20046	T	0.44	-47.5283	16.4985	0.84251	0.0:1.0:0.0:0.0	.	651	Q495T6	MMEL1_HUMAN	I	494;642;651;494	ENSP00000288709:M642I;ENSP00000367668:M651I;ENSP00000422492:M494I	ENSP00000288709:M642I	M	-	3	0	MMEL1	2514180	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	5.604000	0.67626	2.460000	0.83146	0.655000	0.94253	ATG		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		6	303	1	0	0.0215528	1	0.0216335	6	303					A	2524320	C	A	2524320	3	1	79	1	0	0	0	0	1	0	0	0	9687	826	29	3	406	3	MMEL1	1	2524320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1302	2524320	246726301	40	10357											
ACTRT2	140625	broad.mit.edu	37	chr1	2938529	2938529	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagagactctggaagcacctCtttgagtgggagctaggcgt	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	93						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(277-279)ctC>ctA		actin-related protein T2							88	90	89					1																	2938529		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938529C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.279C>A	1.37:g.2938529C>A							p.L93L	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	484	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	93					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.279C>A	CCDS45.1																																																																																				0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		78	369	1	0	1.50424e-25	1	1.72683e-25	78	369					A	2938529	C	A	2938529	2	1	79	1	0	0	0	0	0	0	0	1	219	900	32	3		3	ACTRT2	1	2938529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414209	2938529	246312092	41	10358											
PRDM16	63976	broad.mit.edu	37	chr1	3301745	3301745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacctgggcagtgagaagttCtgcgtggatgcaaatcaggc	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000270722.5	+	4	517	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	156	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGAGAAGTTCTGCGTGGATG	0.597			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(466-468)ttC>ttT		PR domain containing 16							88	99	95					1																	3301745		2156	4282	6438	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3301745C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.468C>T	1.37:g.3301745C>T						PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000270722.5_Silent_p.F156F	p.F156F			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	4	550	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	156			SET.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.468C>T	CCDS41236.2																																																																																				0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		105	456	0	0	0	1	0	105	456					T	3301745	C	T	3301745	2	4	79	1	0	0	0	0	0	0	0	1	12504	912	32	2		2	PRDM16	1	3301745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363216	3301745	245948876	42	10359											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggactttttcgaaaaattgCcagccggccaacgtgctacc	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	521	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(1561-1563)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 16							99	101	101					1																	3394527		2191	4290	6481	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394527C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1562C>T	1.37:g.3394527C>T	ENSP00000367629:p.Ala521Val					ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V	p.A521V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1967	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	521			PH.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1562C>T	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705645	0.15172	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.58	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418477	0.26859	N	0.022136	T	0.67581	0.2908	L	0.50333	1.59	0.32814	D	0.501823	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.67031	-0.5773	10	0.13470	T	0.59	-18.3756	9.7142	0.40265	0.0:0.7839:0.1422:0.0738	.	225;521	B4DJM7;Q5VV41	.;ARHGG_HUMAN	V	521;233;233;225	ENSP00000367629:A521V;ENSP00000367624:A233V;ENSP00000367622:A233V;ENSP00000408887:A225V	ENSP00000367622:A233V	A	+	2	0	ARHGEF16	3384387	0.969000	0.33509	0.568000	0.28447	0.145000	0.21501	2.238000	0.43070	1.294000	0.44707	0.555000	0.69702	GCC		0.577	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		41	474	0	0	0	1	0	41	474					T	3394527	C	T	3394527	3	4	79	1	0	0	0	0	1	0	0	0	899	739	26	2	1600	2	ARHGEF16	1	3394527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92782	3394527	245856094	43	10360											
MEGF6	1953	broad.mit.edu	37	chr1	3413807	3413807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcacctaccctgctcgcaGccggagccagtgaagccagg	13	15	0	1	rs577073182		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1157	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3469-3471)ggC>ggA		multiple EGF-like-domains 6							12	18	16					1																	3413807		2086	4211	6297	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3413807G>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3471C>A	1.37:g.3413807G>T						MEGF6_ENST00000294599.4_Silent_p.G966G	p.G1157G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	27	3697	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1157			EGF-like 21.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3471C>A	CCDS41237.1																																																																																				0.721	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		44	169	1	0	6.31075e-24	1	7.19376e-24	44	169					T	3413807	G	T	3413807	2	4	79	1	0	0	0	0	0	0	0	1	9503	958	34	3		3	MEGF6	1	3413807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19280	3413807	245836814	44	10361											
MEGF6	1953	broad.mit.edu	37	chr1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgccattgcccagggCgcaggagttaatggctgggg	17	11	0	0	rs199678946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	207	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(619-621)Gcc>Acc		multiple EGF-like-domains 6		C	THR/ALA	2,4226		0,2,2112	32	43	39		619	-1.1	0.1	1		39	12,8450		0,12,4219	yes	missense	MEGF6	NM_001409.3	58	0,14,6331	TT,TC,CC		0.1418,0.0473,0.1103	benign	207/1542	3432077	14,12676	2114	4231	6345	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3432077C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.619G>A	1.37:g.3432077C>T	ENSP00000348982:p.Ala207Thr					MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	p.A207T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	6	845	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	207			EGF-like 3.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.619G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238359	0.05944	4.73E-4	0.001418	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96396	-4.0;-4.0	4.22	-1.12	0.09808	Epidermal growth factor-like (1);	0.348665	0.29745	N	0.011315	D	0.91546	0.7330	M	0.66378	2.025	0.09310	N	0.999997	B;B	0.27559	0.181;0.02	B;B	0.16722	0.016;0.016	T	0.79650	-0.1715	10	0.15066	T	0.55	-7.6117	3.9544	0.09383	0.2661:0.3986:0.0:0.3353	.	207;102	O75095;O75095-2	MEGF6_HUMAN;.	T	102;207	ENSP00000294599:A102T;ENSP00000348982:A207T	ENSP00000294599:A102T	A	-	1	0	MEGF6	3421937	0.000000	0.05858	0.140000	0.22221	0.415000	0.31203	-1.955000	0.01523	-0.075000	0.12798	-0.311000	0.09066	GCC		0.662	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		42	203	0	0	0	1	0	42	203					T	3432077	C	T	3432077	3	4	79	1	0	0	0	0	1	0	0	0	9503	768	27	1	4134	1	MEGF6	1	3432077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18270	3432077	245818544	45	10362											
WDR8	49856	broad.mit.edu	37	chr1	3564022	3564022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaagagcgagtctgCcgaccactcgatgtgctgga	14	10	1	2	rs138332031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3564022C>T	ENST00000270708.7	-	2	245	c.172G>A	c.(172-174)Gca>Aca	p.A58T	WRAP73_ENST00000378322.3_Missense_Mutation_p.A58T	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	58						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCGAGTCTGCCGACCACTCG	0.577																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(172-174)Gca>Aca		WD repeat containing, antisense to TP73							114	84	94					1																	3564022		2202	4300	6502	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3564022C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.172G>A	1.37:g.3564022C>T	ENSP00000270708:p.Ala58Thr					WRAP73_ENST00000270708.7_Missense_Mutation_p.A58T	p.A58T			Q9P2S5	WRP73_HUMAN			2	230	-			58					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.172G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577458	0.28180	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.41400	1.0;1.0;1.0	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);	0.051689	0.85682	D	0.000000	T	0.28366	0.0701	N	0.14661	0.345	0.41919	D	0.990501	B;P;P	0.40578	0.259;0.722;0.707	B;B;B	0.40066	0.108;0.118;0.318	T	0.12734	-1.0536	10	0.54805	T	0.06	-28.5879	11.7614	0.51905	0.2782:0.7218:0.0:0.0	.	58;58;58	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	T	58	ENSP00000270708:A58T;ENSP00000367573:A58T;ENSP00000416192:A58T	ENSP00000270708:A58T	A	-	1	0	WRAP73	3553882	1.000000	0.71417	0.225000	0.23894	0.238000	0.25445	4.581000	0.60949	2.519000	0.84933	0.655000	0.94253	GCA		0.577	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			20	114	0	0	0	1	0	20	114					T	3564022	C	T	3564022	3	4	79	1	0	0	0	0	1	0	0	0	17383	739	26	2	1254	2	WDR8	1	3564022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131945	3564022	245686599	46	10363											
KIAA0495	57212	broad.mit.edu	37	chr1	3662564	3662564	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccgggcagacaagtcGctggtggtggtgctgatggc	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3662564G>A	ENST00000452079.1	-	0	1322				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											CAGACAAGTCGCTGGTGGTGG	0.597																																						ENST00000452079.1																			0																				105	119	114					1																	3662564		2179	4278	6457			0							g.chr1:3662564G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"Long non-coding RNAs"	29052	non-coding RNA	RNA, long non-coding	"p53-dependent apoptosis modulator"		"KIAA0495"	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662564G>A						TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA		NR_033711.1						0	1322	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.597	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		56	521	0	0	0	1	0	56	521					A	3662564	G	A	3662564	1	1	79	0	1	0	0	0	0	0	0	0	8210	1078	38	1		1	KIAA0495	1	3662564	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98542	3662564	245588057	47	10364											
CCDC27	148870	broad.mit.edu	37	chr1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcggaactggagagaAagctcaccaagcgggactgt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGGAGAGAAAGCTCACCAA	0.562																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1552-1554)Aag>Gag		coiled-coil domain containing 27							47	48	48					1																	3683818		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3683818A>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1552A>G	1.37:g.3683818A>G	ENSP00000294600:p.Lys518Glu						p.K518E	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1636	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	518					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1552A>G	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	0.225	-1.025232	0.02061	.	.	ENSG00000162592	ENST00000294600	T	0.17528	2.27	5.24	1.08	0.20341	.	0.775011	0.11797	N	0.528528	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B	0.20261	0.043	B	0.17722	0.019	T	0.44605	-0.9317	10	0.13853	T	0.58	-3.2002	7.2761	0.26286	0.4014:0.0:0.5986:0.0	.	518	Q2M243	CCD27_HUMAN	E	518	ENSP00000294600:K518E	ENSP00000294600:K518E	K	+	1	0	CCDC27	3673678	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.071000	0.12886	-0.899000	0.02877	AAG		0.562	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		19	150	0	0	0	1	0	19	150					G	3683818	A	G	3683818	3	3	79	1	0	0	0	0	1	0	0	0	2808	15	1	4	1590	4	CCDC27	1	3683818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21254	3683818	245566803	48	10365											
LRRC47	57470	broad.mit.edu	37	chr1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccacaagacacgggtAattttcatttccatccagca	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	448							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			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)		AGACACGGGTAATTTTCATTT	0.438																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1342-1344)Tac>Cac		leucine rich repeat containing 47							156	131	139					1																	3699296		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3699296A>G	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.1342T>C	1.37:g.3699296A>G	ENSP00000367498:p.Tyr448His						p.Y448H	NM_020710.2	NP_065761.1	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)	5	1369	-	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)	448					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1342T>C	CCDS51.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189190	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.54479	0.57	4.49	4.49	0.54785	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80894	-0.1178	10	0.87932	D	0	-30.4893	12.9815	0.58567	1.0:0.0:0.0:0.0	.	448	Q8N1G4	LRC47_HUMAN	H	448	ENSP00000367498:Y448H	ENSP00000367498:Y448H	Y	-	1	0	LRRC47	3689156	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	8.820000	0.92003	1.669000	0.50854	0.402000	0.26972	TAC		0.438	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		56	295	0	0	0	1	0	56	295					G	3699296	A	G	3699296	3	3	79	1	0	0	0	0	1	0	0	0	9042	362	13	4	421	4	LRRC47	1	3699296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15478	3699296	245551325	49	10366											
LRRC47	57470	broad.mit.edu	37	chr1	3703686	3703686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctcggcacggcccttGcccttcccgccaccacggcc	10	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	268							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			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)		CACGGCCCTTGCCCTTCCCGC	0.657																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(802-804)ggC>ggT		leucine rich repeat containing 47							87	64	72					1																	3703686		2203	4300	6503	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703686G>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.804C>T	1.37:g.3703686G>A							p.G268G	NM_020710.2	NP_065761.1	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)	2	831	-	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)	268					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.804C>T	CCDS51.1																																																																																				0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		37	284	0	0	0	1	0	37	284					A	3703686	G	A	3703686	2	1	79	1	0	0	0	0	0	0	0	1	9042	1306	46	2		2	LRRC47	1	3703686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4390	3703686	245546935	50	10367											
KIAA0562	9731	broad.mit.edu	37	chr1	3750492	3750492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttctggtgagcaaaacGggaatggtcctctccacaca	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3750492G>A	ENST00000378230.3	-	12	1917	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	531						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGAGCAAAACGGGAATGGTCC	0.423																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1591-1593)ccC>ccT		centrosomal protein 104kDa							135	129	131					1																	3750492		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3750492G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1593C>T	1.37:g.3750492G>A						CEP104_ENST00000460038.1_5'UTR	p.P531P	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			12	1917	-			531					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.1593C>T	CCDS30571.1																																																																																				0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		63	255	0	0	0	1	0	63	255					A	3750492	G	A	3750492	2	1	79	1	0	0	0	0	0	0	0	1	8214	1103	39	1		1	KIAA0562	1	3750492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46806	3750492	245500129	51	10368											
DFFB	1677	broad.mit.edu	37	chr1	3800135	3800135	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaggaacaagatggaagaGaagtggactgggagtatttt	14	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3800135G>T	ENST00000378209.3	+	7	1170	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	283					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGATGGAAGAGAAGTGGACTG	0.413																																						ENST00000378209.3																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(847-849)Gaa>Taa		DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)							192	182	186					1																	3800135		2203	4300	6503	SO:0001587	stop_gained	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800135G>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.847G>T	1.37:g.3800135G>T	ENSP00000367454:p.Glu283*						p.E283*	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1170	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	283					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000378209.3	37	c.847G>T	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017598	0.97205	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	.	.	.	5.3	5.3	0.74995	.	0.155202	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-23.2552	17.9466	0.89040	0.0:0.0:1.0:0.0	.	.	.	.	X	283;219;219	.	ENSP00000343218:E219X	E	+	1	0	DFFB	3789995	0.995000	0.38212	0.136000	0.22124	0.031000	0.12232	2.836000	0.48183	2.467000	0.83353	0.655000	0.94253	GAA		0.413	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		11	571	1	0	5.50884e-06	1	5.65664e-06	11	571					T	3800135	G	T	3800135	4	4	79	1	0	0	0	0	0	1	0	0	4469	943	33	3	873	3	DFFB	1	3800135	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49643	3800135	245450486	52	10369											
C1orf174	339448	broad.mit.edu	37	chr1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgcagccaccgagaggaaGacttgcagccccctgctgca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119						nucleus (GO:0005634)		p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567																																						ENST00000361605.3																			1	Substitution - Missense(1)	p.L119F(1)	lung(1)	endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(355-357)Ctt>Att		chromosome 1 open reading frame 174							60	56	57					1																	3807396		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3807396G>T	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.355C>A	1.37:g.3807396G>T	ENSP00000355306:p.Leu119Ile					C1orf174_ENST00000486765.1_5'UTR	p.L119I	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	453	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	119					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.355C>A	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746792	0.15710	.	.	ENSG00000198912	ENST00000361605	T	0.06687	3.27	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.36890	-0.9729	10	0.15066	T	0.55	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	I	119	ENSP00000355306:L119I	ENSP00000355306:L119I	L	-	1	0	C1orf174	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT		0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		16	209	1	0	4.14922e-12	1	4.44601e-12	16	209					T	3807396	G	T	3807396	3	4	79	1	0	0	0	0	1	0	0	0	2022	942	33	3	384	3	C1orf174	1	3807396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7261	3807396	245443225	53	10370											
AJAP1	55966	broad.mit.edu	37	chr1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgatagccatgtttcagCtcgccgtggacctgcccgcc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	34					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATGTTTCAGCTCGCCGTGGA	0.706																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(100-102)Ctc>Atc		adherens junctions associated protein 1							79	103	95					1																	4772030		2200	4297	6497	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772030C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.100C>A	1.37:g.4772030C>A	ENSP00000367433:p.Leu34Ile					AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	481	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	34					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.100C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772168	0.90108	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.60797	0.16;0.16	5.08	5.08	0.68730	.	0.077313	0.50627	D	0.000116	T	0.65760	0.2722	L	0.32530	0.975	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.68006	-0.5523	10	0.59425	D	0.04	-18.5667	13.9496	0.64109	0.0:1.0:0.0:0.0	.	34	Q9UKB5	AJAP1_HUMAN	I	34	ENSP00000367432:L34I;ENSP00000367433:L34I	ENSP00000367432:L34I	L	+	1	0	AJAP1	4671890	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.198000	0.58419	2.322000	0.78497	0.563000	0.77884	CTC		0.706	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		158	1480	1	0	1.04275e-50	1	1.2925e-50	158	1480					A	4772030	C	A	4772030	3	1	79	1	0	0	0	0	1	0	0	0	438	797	28	3	106	3	AJAP1	1	4772030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964634	4772030	244478591	54	10371											
AJAP1	55966	broad.mit.edu	37	chr1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacccagcccccaaggattCtgggggaggcctcaggtaca	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	272					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCAAGGATTCTGGGGGAGGC	0.602																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(814-816)Ctg>Atg		adherens junctions associated protein 1							66	73	71					1																	4772744		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772744C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.814C>A	1.37:g.4772744C>A	ENSP00000367433:p.Leu272Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1195	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	272					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.814C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614309	0.46631	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.14	4.23	0.50019	.	0.583699	0.15838	N	0.242159	T	0.44787	0.1310	L	0.27053	0.805	0.27055	N	0.963683	D	0.64830	0.994	P	0.60682	0.878	T	0.23013	-1.0200	10	0.41790	T	0.15	-3.634	9.2565	0.37586	0.0:0.8999:0.0:0.1001	.	272	Q9UKB5	AJAP1_HUMAN	M	272	ENSP00000367432:L272M;ENSP00000367433:L272M	ENSP00000367432:L272M	L	+	1	2	AJAP1	4672604	0.705000	0.27846	0.994000	0.49952	0.948000	0.59901	1.026000	0.30103	1.149000	0.42402	0.467000	0.42956	CTG		0.602	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		50	517	1	0	9.52127e-25	1	1.09014e-24	50	517					A	4772744	C	A	4772744	3	1	79	1	0	0	0	0	1	0	0	0	438	912	32	3	820	3	AJAP1	1	4772744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	4772744	244477877	55	10372											
NPHP4	261734	broad.mit.edu	37	chr1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggtcgctgtgcaggtGgaatgtcctccgggaggggt	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1363					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCAGGTGGAATGTCCTC	0.632																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(4087-4089)Cac>Aac		nephronophthisis 4							82	96	92					1																	5924003		2003	4167	6170	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5924003G>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4087C>A	1.37:g.5924003G>T	ENSP00000367398:p.His1363Asn					NPHP4_ENST00000478423.2_5'UTR	p.H1363N	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	29	4352	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1363					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.4087C>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303324	0.10678	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.3	2.39	0.29439	.	0.749504	0.12359	N	0.475857	T	0.79076	0.4385	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.62034	-0.6939	10	0.23891	T	0.37	.	3.0777	0.06252	0.3113:0.0:0.5017:0.187	.	1363	O75161	NPHP4_HUMAN	N	1363	ENSP00000367398:H1363N	ENSP00000367398:H1363N	H	-	1	0	NPHP4	5846590	1.000000	0.71417	0.013000	0.15412	0.386000	0.30323	2.329000	0.43876	0.607000	0.29982	-0.119000	0.15052	CAC		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			26	143	1	0	4.26978e-12	1	4.57227e-12	26	143					T	5924003	G	T	5924003	3	4	79	1	0	0	0	0	1	0	0	0	10623	1348	47	3	201	3	NPHP4	1	5924003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151259	5924003	243326618	56	10373											
NPHP4	261734	broad.mit.edu	37	chr1	5926444	5926444	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcacttacgagtaaatgatGacaaagaagtctttgatctc	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1211					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAATGATGACAAAGAAGT	0.582																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3631-3633)gtC>gtT		nephronophthisis 4							43	45	44					1																	5926444		1943	4138	6081	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5926444G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3633C>T	1.37:g.5926444G>A						NPHP4_ENST00000478423.2_5'UTR	p.V1211V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	26	3898	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1211					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3633C>T	CCDS44052.1																																																																																				0.582	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			10	53	0	0	0	1	0	10	53					A	5926444	G	A	5926444	2	1	79	1	0	0	0	0	0	0	0	1	10623	1277	45	2		2	NPHP4	1	5926444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2441	5926444	243324177	57	10374											
NPHP4	261734	broad.mit.edu	37	chr1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtaggcggcgatgacCtgtaggtcccgcaagtgctg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2857-2859)caG>caT		nephronophthisis 4							50	59	56					1																	5935119		2190	4285	6475	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5935119C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2859G>T	1.37:g.5935119C>A	ENSP00000367398:p.Gln953His					NPHP4_ENST00000478423.2_5'UTR	p.Q953H	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	21	3124	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	953					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2859G>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	NPHP4	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG		0.672	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			25	91	1	0	1.10923e-09	1	1.16946e-09	25	91					A	5935119	C	A	5935119	3	1	79	1	0	0	0	0	1	0	0	0	10623	680	24	3	1461	3	NPHP4	1	5935119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	5935119	243315502	58	10375											
NPHP4	261734	broad.mit.edu	37	chr1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttggccatgatgttcctCggcagtcctgggccactctg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	658					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGTTCCTCGGCAGTCCTG	0.547																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1972-1974)cGa>cAa		nephronophthisis 4							115	117	117					1																	5964847		2094	4225	6319	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964847C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1973G>A	1.37:g.5964847C>T	ENSP00000367398:p.Arg658Gln					NPHP4_ENST00000478423.2_5'UTR	p.R658Q	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2238	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	658					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1973G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781207	0.16120	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.1	-1.94	0.07571	.	1.397130	0.04674	N	0.411192	T	0.64305	0.2586	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.55798	-0.8084	10	0.10636	T	0.68	.	2.8422	0.05533	0.1131:0.4045:0.3466:0.1358	.	658	O75161	NPHP4_HUMAN	Q	658;61	ENSP00000367398:R658Q	ENSP00000367398:R658Q	R	-	2	0	NPHP4	5887434	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.677000	0.05215	-0.771000	0.04608	0.655000	0.94253	CGA		0.547	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			43	425	0	0	0	1	0	43	425					T	5964847	C	T	5964847	3	4	79	1	0	0	0	0	1	0	0	0	10623	884	31	1	2367	1	NPHP4	1	5964847	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29728	5964847	243285774	59	10376											
NPHP4	261734	broad.mit.edu	37	chr1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggttaaacgtcacaggttCtgtagcgctgacagcctcgg	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	624					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGTTCTGTAGCGCTG	0.512																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1870-1872)Gaa>Aaa		nephronophthisis 4							130	129	129					1																	5965437		1980	4172	6152	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965437C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1870G>A	1.37:g.5965437C>T	ENSP00000367398:p.Glu624Lys					NPHP4_ENST00000478423.2_5'UTR	p.E624K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	15	2135	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	624					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1870G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304596	0.23736	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86694	-2.16	5.52	4.41	0.53225	.	0.499991	0.19623	N	0.109877	T	0.79364	0.4433	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.26202	0.067	T	0.71447	-0.4590	10	0.66056	D	0.02	.	10.7746	0.46342	0.0:0.839:0.0:0.161	.	624	O75161	NPHP4_HUMAN	K	624;27	ENSP00000367398:E624K	ENSP00000367398:E624K	E	-	1	0	NPHP4	5888024	0.285000	0.24296	0.020000	0.16555	0.002000	0.02628	3.034000	0.49751	2.586000	0.87340	0.561000	0.74099	GAA		0.512	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			115	385	0	0	0	1	0	115	385					T	5965437	C	T	5965437	3	4	79	1	0	0	0	0	1	0	0	0	10623	922	32	2	2474	2	NPHP4	1	5965437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	5965437	243285184	60	10377											
NPHP4	261734	broad.mit.edu	37	chr1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttccaaggctggcgcGctctctgtgggtggggaggg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	21					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGCGCGCTCTCTGTGG	0.577																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(61-63)gCg>gTg		nephronophthisis 4							64	70	68					1																	6046288		2048	4186	6234	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6046288G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.62C>T	1.37:g.6046288G>A	ENSP00000367398:p.Ala21Val					NPHP4_ENST00000478423.2_Intron	p.A21V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	2	327	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	21					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.62C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667150	0.47677	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.71	2.58	0.30949	.	0.521925	0.18213	N	0.148132	D	0.85864	0.5796	L	0.31664	0.95	0.24460	N	0.994448	D	0.76494	0.999	P	0.59357	0.856	T	0.76621	-0.2892	10	0.28530	T	0.3	.	10.9578	0.47368	0.0895:0.1727:0.7378:0.0	.	21	O75161	NPHP4_HUMAN	V	21	ENSP00000367398:A21V	ENSP00000367398:A21V	A	-	2	0	NPHP4	5968875	0.001000	0.12720	0.914000	0.36105	0.339000	0.28857	-0.158000	0.10070	0.733000	0.32492	0.655000	0.94253	GCG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			9	117	0	0	0	1	0	9	117					A	6046288	G	A	6046288	3	1	79	1	0	0	0	0	1	0	0	0	10623	1087	38	1	4334	1	NPHP4	1	6046288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80851	6046288	243204333	61	10378											
NPHP4	261734	broad.mit.edu	37	chr1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttttgggtgaagatcCtgtgccagtcgttcatcctg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	6					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAGATCCTGTGCCAGTC	0.577																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(16-18)aGg>aAg		nephronophthisis 4							57	61	59					1																	6046333		2019	4172	6191	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6046333C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.17G>A	1.37:g.6046333C>T	ENSP00000367398:p.Arg6Lys					NPHP4_ENST00000478423.2_Intron	p.R6K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	2	282	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	6					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.17G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708515	0.15239	.	.	ENSG00000131697	ENST00000378156	D	0.86297	-2.1	5.41	-2.07	0.07276	.	1.197840	0.06089	N	0.663313	T	0.80859	0.4704	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60929	-0.7165	10	0.14656	T	0.56	.	11.3369	0.49509	0.0:0.3751:0.0:0.6249	.	6	O75161	NPHP4_HUMAN	K	6	ENSP00000367398:R6K	ENSP00000367398:R6K	R	-	2	0	NPHP4	5968920	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.822000	0.04448	-0.338000	0.08413	-0.136000	0.14681	AGG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			17	108	0	0	0	1	0	17	108					T	6046333	C	T	6046333	3	4	79	1	0	0	0	0	1	0	0	0	10623	681	24	2	4379	2	NPHP4	1	6046333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	6046333	243204288	62	10379											
KCNAB2	8514	broad.mit.edu	37	chr1	6155597	6155597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctcttcaggagtgggCgccatgacctggtcccctct	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	ENST00000164247.1	+	13	1281	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	239					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGTGGGCGCCATGACCT	0.632																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(715-717)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, beta member 2							90	89	89					1																	6155597		2203	4299	6502	SO:0001819	synonymous_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6155597C>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.717C>T	1.37:g.6155597C>T						KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000602612.1_Silent_p.G239G	p.G239G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	13	1281	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	239					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	ENST00000164247.1	37	c.717C>T	CCDS55.1																																																																																				0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		32	327	0	0	0	1	0	32	327					T	6155597	C	T	6155597	2	4	79	1	0	0	0	0	0	0	0	1	8040	755	27	1		1	KCNAB2	1	6155597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109264	6155597	243095024	63	10380											
CHD5	26038	broad.mit.edu	37	chr1	6166503	6166503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagttgacaatccctcCcggtccagggccccggaagt	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	ENST00000262450.3	-	40	5908	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_ENST00000378021.1_Intron	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACAATCCCTCCCGGTCCAGGG	0.657																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5809-5811)Gga>Aga		chromodomain helicase DNA binding protein 5							26	24	24					1																	6166503		2162	4261	6423	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166503C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5809G>A	1.37:g.6166503C>T	ENSP00000262450:p.Gly1937Arg					CHD5_ENST00000378021.1_Intron	p.G1937R	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	40	5908	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1937					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5809G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051807	0.55218	.	.	ENSG00000116254	ENST00000262450	D	0.90324	-2.65	4.86	4.86	0.63082	.	0.688966	0.13390	N	0.391516	D	0.86661	0.5986	L	0.27053	0.805	0.80722	D	1	B	0.33022	0.394	B	0.32864	0.154	D	0.85433	0.1150	10	0.62326	D	0.03	-0.5348	18.3532	0.90345	0.0:1.0:0.0:0.0	.	1937	Q8TDI0	CHD5_HUMAN	R	1937	ENSP00000262450:G1937R	ENSP00000262450:G1937R	G	-	1	0	CHD5	6089090	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.951000	0.49089	2.408000	0.81797	0.491000	0.48974	GGA		0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		6	36	0	0	0	1	0	6	36					T	6166503	C	T	6166503	3	4	79	1	0	0	0	0	1	0	0	0	3337	632	22	2	63	2	CHD5	1	6166503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10906	6166503	243084118	64	10381											
CHD5	26038	broad.mit.edu	37	chr1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctggtggctctcggCgaggcactccacttcagcca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662																																						ENST00000262450.3																			1	Substitution - Missense(1)	p.A1836T(1)	lung(1)	breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5506-5508)Gcc>Acc		chromodomain helicase DNA binding protein 5							78	78	78					1																	6169927		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6169927C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5506G>A	1.37:g.6169927C>T	ENSP00000262450:p.Ala1836Thr					CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	p.A1836T	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	38	5605	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1836					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5506G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	CHD5	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		48	465	0	0	0	1	0	48	465					T	6169927	C	T	6169927	3	4	79	1	0	0	0	0	1	0	0	0	3337	768	27	1	374	1	CHD5	1	6169927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3424	6169927	243080694	65	10382											
CHD5	26038	broad.mit.edu	37	chr1	6181169	6181169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaagaagccccaacctctCggcagctgctccggggaggg	14	14	1	1	rs200772880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCAACCTCTCGGCAGCTGCT	0.652													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		15535	0.0		0.0	False		,,,				2504	0.0					ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4906-4908)ccG>ccA		chromodomain helicase DNA binding protein 5							18	22	21					1																	6181169		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181169C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4908G>A	1.37:g.6181169C>T						CHD5_ENST00000378021.1_Silent_p.P493P	p.P1636P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	5007	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1636					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4908G>A	CCDS57.1																																																																																				0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		12	117	0	0	0	1	0	12	117					T	6181169	C	T	6181169	2	4	79	1	0	0	0	0	0	0	0	1	3337	871	31	1		1	CHD5	1	6181169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11242	6181169	243069452	66	10383											
CHD5	26038	broad.mit.edu	37	chr1	6184720	6184720	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaagagggacacataggCtctggggtggggggggggga	22	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4396G>T	c.(4396-4398)Gcc>Tcc	p.A1466S	CHD5_ENST00000378021.1_Splice_Site_p.A323S	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACACATAGGCTCTGGGGTGG	0.692																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.e30-1		chromodomain helicase DNA binding protein 5							4	4	4					1																	6184720		2092	4104	6196	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6184720C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4395-1G>T	1.37:g.6184720C>A						CHD5_ENST00000378021.1_Splice_Site_p.A323_splice	p.A1466_splice	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	30	4495	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1466					A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37	c.4394_splice	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814527	0.96982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91996	-2.95;2.03	4.54	4.54	0.55810	Domain of unknown function DUF1086 (1);	0.000000	0.64402	D	0.000001	D	0.95639	0.8582	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.994;0.999	D	0.96293	0.9215	10	0.87932	D	0	-23.6995	17.6537	0.88172	0.0:1.0:0.0:0.0	.	1466;323	Q8TDI0;Q5TG85	CHD5_HUMAN;.	S	1466;982;323;874;874;323	ENSP00000262450:A1466S;ENSP00000367260:A323S	ENSP00000262450:A1466S	A	-	1	0	CHD5	6107307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.394000	0.79862	2.251000	0.74343	0.561000	0.74099	GCC		0.692	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Missense_Mutation	5	15	1	0	0.014758	1	0.0148251	5	15					A	6184720	C	A	6184720	5	1	79	1	0	0	0	0	0	0	1	0	3337	811	28	3	1516	3	CHD5	1	6184720	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	6184720	243065901	67	10384											
CHD5	26038	broad.mit.edu	37	chr1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcgggttccagtccgagtCgtagatgatgacagtgtccg	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGTCCGAGTCGTAGATGATG	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3355-3357)Gac>Aac		chromodomain helicase DNA binding protein 5							113	99	103					1																	6190296		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6190296C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3355G>A	1.37:g.6190296C>T	ENSP00000262450:p.Asp1119Asn					CHD5_ENST00000378021.1_5'UTR	p.D1119N	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	22	3454	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1119			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3355G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447517	0.96205	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.81330	-1.48	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.93648	0.7971	H	0.97365	3.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96007	0.8998	10	0.87932	D	0	-40.3082	18.2593	0.90030	0.0:1.0:0.0:0.0	.	1119	Q8TDI0	CHD5_HUMAN	N	1119;635;527;527	ENSP00000262450:D1119N	ENSP00000262450:D1119N	D	-	1	0	CHD5	6112883	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.699000	0.84547	2.380000	0.81148	0.561000	0.74099	GAC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		36	357	0	0	0	1	0	36	357					T	6190296	C	T	6190296	3	4	79	1	0	0	0	0	1	0	0	0	3337	884	31	1	2589	1	CHD5	1	6190296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5576	6190296	243060325	68	10385											
CHD5	26038	broad.mit.edu	37	chr1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcccactccgaatgGcgttgtcctcaaaggaaaac	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2401-2403)gCc>gTc		chromodomain helicase DNA binding protein 5							169	158	162					1																	6202222		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202222G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2402C>T	1.37:g.6202222G>A	ENSP00000262450:p.Ala801Val					CHD5_ENST00000378021.1_5'UTR	p.A801V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2501	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	801			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2402C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		94	873	0	0	0	1	0	94	873					A	6202222	G	A	6202222	3	1	79	1	0	0	0	0	1	0	0	0	3337	1203	42	2	3570	2	CHD5	1	6202222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11926	6202222	243048399	69	10386											
CHD5	26038	broad.mit.edu	37	chr1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatactcctcttcttcttgCgcctcctcttgctcttcttg	4	16	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCTTCTTGCGCCTCCTCTT	0.602																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(979-981)cGc>cAc		chromodomain helicase DNA binding protein 5							98	92	94					1																	6211106		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6211106C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.980G>A	1.37:g.6211106C>T	ENSP00000262450:p.Arg327His					CHD5_ENST00000378021.1_5'UTR	p.R327H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1079	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	327					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.980G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147784	0.37923	.	.	ENSG00000116254	ENST00000262450	D	0.85088	-1.94	4.0	2.0	0.26442	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.69593	0.3128	L	0.38175	1.15	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.65100	-0.6250	10	0.87932	D	0	-18.1038	3.128	0.06413	0.3835:0.409:0.0:0.2075	.	327	Q8TDI0	CHD5_HUMAN	H	327	ENSP00000262450:R327H	ENSP00000262450:R327H	R	-	2	0	CHD5	6133693	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	2.966000	0.49208	0.261000	0.21753	-0.370000	0.07254	CGC		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		24	243	0	0	0	1	0	24	243					T	6211106	C	T	6211106	3	4	79	1	0	0	0	0	1	0	0	0	3337	768	27	1	5024	1	CHD5	1	6211106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8884	6211106	243039515	70	10387											
CHD5	26038	broad.mit.edu	37	chr1	6214959	6214959	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttggcaatgagtggcCtgtagggggagaggcaggag	18	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATGAGTGGCCTGTAGGGGGA	0.617																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.e5-1		chromodomain helicase DNA binding protein 5							44	48	46					1																	6214959		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214959C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.507-1G>A	1.37:g.6214959C>T						CHD5_ENST00000378021.1_Splice_Site		NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	606	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37		CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989004	0.35131	.	.	ENSG00000116254	ENST00000262450	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6137546	1.000000	0.71417	0.894000	0.35097	0.226000	0.24999	7.381000	0.79718	1.876000	0.54355	0.313000	0.20887	.		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Intron	33	219	0	0	0	1	0	33	219					T	6214959	C	T	6214959	5	4	79	1	0	0	0	0	0	0	1	0	3337	695	24	2	5506	2	CHD5	1	6214959	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3853	6214959	243035662	71	10388											
CHD5	26038	broad.mit.edu	37	chr1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtccaggccccactcggCcatgagctgccccgaggact	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCCACTCGGCCATGAGCTGC	0.627																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(415-417)Gcc>Tcc		chromodomain helicase DNA binding protein 5							93	84	87					1																	6215750		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6215750C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.415G>T	1.37:g.6215750C>A	ENSP00000262450:p.Ala139Ser					CHD5_ENST00000378021.1_5'UTR	p.A139S	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	4	514	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	139					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.415G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021652	0.07634	.	.	ENSG00000116254	ENST00000262450	D	0.90004	-2.6	4.31	3.39	0.38822	.	0.360385	0.24296	N	0.039780	D	0.82300	0.5007	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.73395	-0.3996	10	0.09590	T	0.72	-28.1265	12.3353	0.55062	0.0:0.9171:0.0:0.0829	.	139	Q8TDI0	CHD5_HUMAN	S	139	ENSP00000262450:A139S	ENSP00000262450:A139S	A	-	1	0	CHD5	6138337	1.000000	0.71417	0.984000	0.44739	0.369000	0.29798	2.566000	0.45948	0.955000	0.37878	-0.136000	0.14681	GCC		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		43	197	1	0	4.44401e-20	1	4.96976e-20	43	197					A	6215750	C	A	6215750	3	1	79	1	0	0	0	0	1	0	0	0	3337	739	26	3	5601	3	CHD5	1	6215750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	791	6215750	243034871	72	10389											
GPR153	387509	broad.mit.edu	37	chr1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtcacccaccagcacagGgaagcccatgaggcagtcgt	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(778-780)Cct>Tct		G protein-coupled receptor 153							90	94	93					1																	6313786		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313786G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.778C>T	1.37:g.6313786G>A	ENSP00000367125:p.Pro260Ser						p.P260S	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	1037	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	260					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.778C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549552	0.86127	.	.	ENSG00000158292	ENST00000377893	T	0.35973	1.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54282	-0.8317	10	0.87932	D	0	-38.9726	17.1055	0.86662	0.0:0.0:1.0:0.0	.	260	Q6NV75	GP153_HUMAN	S	260	ENSP00000367125:P260S	ENSP00000367125:P260S	P	-	1	0	GPR153	6236373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.384000	0.81235	0.462000	0.41574	CCT		0.632	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			65	300	0	0	0	1	0	65	300					A	6313786	G	A	6313786	3	1	79	1	0	0	0	0	1	0	0	0	6688	1232	43	2	1067	2	GPR153	1	6313786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98036	6313786	242936835	73	10390											
ACOT7	11332	broad.mit.edu	37	chr1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtggccctgtcgcttcGccttcatctgcaggtaccgc	11	17	2	0	rs578211150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000377855.2	-	9	1255	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000361521.4_Missense_Mutation_p.A360V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	370					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTCGCTTCGCCTTCATCTG	0.622																																					GBM(74;673 1226 4974 11850 13190)	ENST00000361521.4																			0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(1078-1080)gCg>gTg		acyl-CoA thioesterase 7							200	140	160					1																	6324691		2201	4299	6500	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6324691G>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1109C>T	1.37:g.6324691G>A	ENSP00000367086:p.Ala370Val					ACOT7_ENST00000377855.2_Missense_Mutation_p.A370V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	p.A360V	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	9	2070	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	370					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.1079C>T	CCDS65.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800147	0.90538	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.991	P;P;P;P	0.58820	0.551;0.458;0.846;0.562	T	0.53528	-0.8426	10	0.33940	T	0.23	.	15.1435	0.72630	0.0:0.0:1.0:0.0	.	360;370;340;319	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	370;340;319;360;255	ENSP00000367086:A370V;ENSP00000367076:A340V;ENSP00000367073:A319V;ENSP00000354615:A360V;ENSP00000439218:A255V	ENSP00000354615:A360V	A	-	2	0	ACOT7	6247278	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.861000	0.69553	2.647000	0.89833	0.563000	0.77884	GCG		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		20	130	0	0	0	1	0	20	130					A	6324691	G	A	6324691	3	1	79	1	0	0	0	0	1	0	0	0	155	1087	38	1	37	1	ACOT7	1	6324691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10905	6324691	242925930	74	10391											
HES2	54626	broad.mit.edu	37	chr1	6479365	6479365	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcgcacggtcatttccagGacgtctgccttctctagctt	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000377837.1_Intron|HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000471190.1_5'Flank|HES2_ENST00000377836.4_Intron|HES2_ENST00000487437.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|transcription factor binding (GO:0008134)			lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652																																						ENST00000377834.4																			0				lung(1)|ovary(1)	2						c.(175-177)gtC>gtA		hes family bHLH transcription factor 2							30	36	34					1																	6479365		2200	4297	6497	SO:0001819	synonymous_variant	54626				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:6479365G>T	AL031848	CCDS30574.1	1p36.31	2013-10-17	2013-10-17		ENSG00000069812	ENSG00000069812		"Basic helix-loop-helix proteins"	16005	protein-coding gene	gene with protein product		609970	"hairy and enhancer of split 2 (Drosophila)"			15254753	Standard	NM_019089		Approved	bHLHb40	uc001amx.3	Q9Y543	OTTHUMG00000000752	ENST00000377834.4:c.177C>A	1.37:g.6479365G>T						HES2_ENST00000487437.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000377837.1_Intron|HES2_ENST00000489730.1_Silent_p.V59V	p.V59V	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	3	275	-	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	59			Helix-loop-helix motif.		A2RTZ9|Q96EN4|Q9Y542	Silent	SNP	ENST00000377834.4	37	c.177C>A	CCDS30574.1																																																																																				0.652	HES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001881.1	NM_019089		15	143	1	0	2.31682e-05	1	2.36778e-05	15	143					T	6479365	G	T	6479365	2	4	79	1	0	0	0	0	0	0	0	1	7096	1161	41	3		3	HES2	1	6479365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154674	6479365	242771256	75	10392											
NOL9	79707	broad.mit.edu	37	chr1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggacagatctcgaagaaTtttgttatgtgactctctga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	518					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1552-1554)Att>Gtt		nucleolar protein 9							122	118	120					1																	6592123		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592123T>C	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1552A>G	1.37:g.6592123T>C	ENSP00000366934:p.Ile518Val						p.I518V	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	9	1584	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	518					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1552A>G	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	0.456	-0.891319	0.02491	.	.	ENSG00000162408	ENST00000377705	T	0.45276	0.9	5.64	-1.04	0.10068	Pre-mRNA cleavage complex II Clp1 (1);	0.471757	0.20863	N	0.084305	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.15636	-1.0430	10	0.29301	T	0.29	-8.2714	10.3635	0.44010	0.0:0.3013:0.0:0.6987	.	518	Q5SY16	NOL9_HUMAN	V	518	ENSP00000366934:I518V	ENSP00000366934:I518V	I	-	1	0	NOL9	6514710	0.029000	0.19370	0.002000	0.10522	0.382000	0.30200	0.135000	0.15952	-0.240000	0.09696	0.379000	0.24179	ATT		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		38	290	0	0	0	1	0	38	290					C	6592123	T	C	6592123	3	2	79	1	0	0	0	0	1	0	0	0	10570	1493	52	4	572	4	NOL9	1	6592123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112758	6592123	242658498	76	10393											
TAS1R1	80835	broad.mit.edu	37	chr1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcaccacggccagcGtctacgacggcaagtacctg	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	782					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCCAGCGTCTACGACGG	0.567																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2344-2346)Gtc>Atc		taste receptor, type 1, member 1							126	107	114					1																	6639462		2203	4300	6503	SO:0001583	missense	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639462G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2344G>A	1.37:g.6639462G>A	ENSP00000331867:p.Val782Ile					TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR	p.V782I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2537	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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)	782					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2344G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.486|3.486	-0.104955|-0.104955	0.06967|0.06967	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000351136	.|D;D	.|0.88046	.|-2.33;-2.33	5.18|5.18	1.56|1.56	0.23342|0.23342	.|GPCR, family 3, C-terminal (2);	.|0.658638	.|0.14093	.|N	.|0.341843	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.35341|0.35341	1.055|1.055	0.22796|0.22796	N|N	0.998728|0.998728	.|P;B	.|0.39862	.|0.692;0.056	.|B;B	.|0.31390	.|0.129;0.022	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.52906	.|T	.|0.07	.|.	1.6027|1.6027	0.02678|0.02678	0.4112:0.1318:0.3228:0.1342|0.4112:0.1318:0.3228:0.1342	.|.	.|528;782	.|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	H|I	239|782;528	.|ENSP00000331867:V782I;ENSP00000312558:V528I	.|ENSP00000331867:V782I	R|V	+|+	2|1	0|0	TAS1R1|TAS1R1	6562049|6562049	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.151000|0.151000	0.21798|0.21798	-0.070000|-0.070000	0.11523|0.11523	0.295000|0.295000	0.22570|0.22570	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.567	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			39	361	0	0	0	1	0	39	361					A	6639462	G	A	6639462	3	1	79	1	0	0	0	0	1	0	0	0	15614	1145	40	1	2366	1	TAS1R1	1	6639462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47339	6639462	242611159	77	10394											
CAMTA1	23261	broad.mit.edu	37	chr1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacgtgccggccatcgaGgactgcggcaagccttgcgg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGGCCATCGAGGACTGCGGCA	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(556-558)gaG>gaT		calmodulin binding transcription activator 1							142	115	124					1																	7700507		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700507G>T	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.558G>T	1.37:g.7700507G>T	ENSP00000306522:p.Glu186Asp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	p.E186D	NM_015215.2	NP_056030.1	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)	7	765	+	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)	186					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.558G>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242079	0.39598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21361	2.02;2.01	5.36	3.25	0.37280	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.53005	D	0.999968	P	0.45768	0.866	P	0.46510	0.519	T	0.06215	-1.0839	10	0.19147	T	0.46	-24.0721	10.9454	0.47297	0.2021:0.0:0.7979:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	D	186	ENSP00000306522:E186D;ENSP00000402561:E186D	ENSP00000306522:E186D	E	+	3	2	CAMTA1	7623094	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.992000	0.56980	1.257000	0.44085	0.462000	0.41574	GAG		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		37	448	1	0	3.21399e-22	1	3.63327e-22	37	448					T	7700507	G	T	7700507	3	4	79	1	0	0	0	0	1	0	0	0	2620	991	35	3	584	3	CAMTA1	1	7700507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1061045	7700507	241550114	78	10395											
CAMTA1	23261	broad.mit.edu	37	chr1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcggcctgagtcccaGcaccaccctggagcagatgg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CTGAGTCCCAGCACCACCCTG	0.672			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(1732-1734)aGc>aAc		calmodulin binding transcription activator 1							32	38	36					1																	7724340		2202	4299	6501	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724340G>A	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.1733G>A	1.37:g.7724340G>A	ENSP00000306522:p.Ser578Asn					CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1940	+	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)	578					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1733G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612615	0.66672	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.39406	1.08;1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.53249	1.67	0.47245	D	0.999365	D	0.63880	0.993	D	0.70227	0.968	T	0.62845	-0.6768	10	0.62326	D	0.03	-20.1297	18.9116	0.92487	0.0:0.0:1.0:0.0	.	578	Q9Y6Y1	CMTA1_HUMAN	N	578	ENSP00000306522:S578N;ENSP00000402561:S578N	ENSP00000306522:S578N	S	+	2	0	CAMTA1	7646927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.528000	0.73807	2.488000	0.83962	0.493000	0.49557	AGC		0.672	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		48	391	0	0	0	1	0	48	391					A	7724340	G	A	7724340	3	1	79	1	0	0	0	0	1	0	0	0	2620	971	34	2	1767	2	CAMTA1	1	7724340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23833	7724340	241526281	79	10396											
CAMTA1	23261	broad.mit.edu	37	chr1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggtcacgtggagacgCggatcgagtccacttcctcc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGTGGAGACGCGGATCGAGTC	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(1993-1995)Cgg>Tgg		calmodulin binding transcription activator 1							108	102	104					1																	7724600		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724600C>T	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.1993C>T	1.37:g.7724600C>T	ENSP00000306522:p.Arg665Trp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2200	+	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)	665					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1993C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137842	0.37728	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21191	2.02;2.02	5.36	4.44	0.53790	.	0.634518	0.15611	N	0.253369	T	0.32376	0.0827	L	0.44542	1.39	0.35016	D	0.757345	D	0.69078	0.997	P	0.56434	0.798	T	0.44019	-0.9355	10	0.72032	D	0.01	-21.6128	12.6059	0.56523	0.4566:0.5434:0.0:0.0	.	665	Q9Y6Y1	CMTA1_HUMAN	W	665	ENSP00000306522:R665W;ENSP00000402561:R665W	ENSP00000306522:R665W	R	+	1	2	CAMTA1	7647187	0.004000	0.15560	0.799000	0.32177	0.742000	0.42306	0.064000	0.14437	1.253000	0.44018	0.498000	0.49722	CGG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		72	810	0	0	0	1	0	72	810					T	7724600	C	T	7724600	3	4	79	1	0	0	0	0	1	0	0	0	2620	759	27	1	2027	1	CAMTA1	1	7724600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	7724600	241526021	80	10397											
CAMTA1	23261	broad.mit.edu	37	chr1	7737765	7737765	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcccacgctcccttcCtcccagcacgactggctgtc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	962					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CGCTCCCTTCCTCCCAGCACG	0.567			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(2884-2886)tcC>tcA		calmodulin binding transcription activator 1							101	91	94					1																	7737765		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7737765C>A	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.2886C>A	1.37:g.7737765C>A						CAMTA1_ENST00000439411.2_Silent_p.S962S	p.S962S	NM_015215.2	NP_056030.1	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)	11	3093	+	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)	962					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2886C>A	CCDS30576.1																																																																																				0.567	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		33	260	1	0	1.62565e-12	1	1.74646e-12	33	260					A	7737765	C	A	7737765	2	1	79	1	0	0	0	0	0	0	0	1	2620	668	24	3		3	CAMTA1	1	7737765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13165	7737765	241512856	81	10398											
CAMTA1	23261	broad.mit.edu	37	chr1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcccctgcagtacgcaCtttataaaaagatgacacag	7	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GCAGTACGCACTTTATAAAAA	0.488			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(4696-4698)Ctt>Ttt		calmodulin binding transcription activator 1							194	208	203					1																	7811265		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811265C>T	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.4696C>T	1.37:g.7811265C>T	ENSP00000306522:p.Leu1566Phe					CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	p.L1566F	NM_015215.2	NP_056030.1	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)	20	4903	+	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)	1566			IQ 1.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4696C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789180	0.90367	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.70425	-0.4875	10	0.13853	T	0.58	-7.3596	19.7272	0.96168	0.0:1.0:0.0:0.0	.	609;529;1566	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	F	1566;1552;609;529;130	ENSP00000306522:L1566F;ENSP00000402561:L1552F;ENSP00000452319:L130F	ENSP00000306522:L1566F	L	+	1	0	CAMTA1	7733852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		268	1179	0	0	0	1	0	268	1179					T	7811265	C	T	7811265	3	4	79	1	0	0	0	0	1	0	0	0	2620	565	20	2	4774	2	CAMTA1	1	7811265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73500	7811265	241439356	82	10399											
PER3	8863	broad.mit.edu	37	chr1	7863170	7863170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgatcctaagctacctGcaccctgaagatcgttctct	6	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000361923.2	+	8	1108	c.933G>A	c.(931-933)ctG>ctA	p.L311L	PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000377532.3_Silent_p.L312L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	311	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(934-936)ctG>ctA		period circadian clock 3							187	164	172					1																	7863170		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7863170G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.933G>A	1.37:g.7863170G>A						PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000361923.2_Silent_p.L311L	p.L312L			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	8	1160	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	311			PAS 2.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.936G>A	CCDS89.1																																																																																				0.443	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		33	259	0	0	0	1	0	33	259					A	7863170	G	A	7863170	2	1	79	1	0	0	0	0	0	0	0	1	11773	1306	46	2		2	PER3	1	7863170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51905	7863170	241387451	83	10400											
SLC45A1	50651	broad.mit.edu	37	chr1	8390438	8390438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaggccgctgcggccGccgagtgagaagcgggcagc	18	13	0	2	rs547186750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390438G>A	ENST00000471889.1	+	5	1270	c.885G>A	c.(883-885)ccG>ccA	p.P295P	SLC45A1_ENST00000289877.8_Silent_p.P295P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.P329P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	295					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCGGCCGCCGAGTGAGA	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11505	0.0		0.0	False		,,,				2504	0.0					ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(883-885)ccG>ccA		solute carrier family 45, member 1							20	23	22					1																	8390438		2190	4280	6470	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390438G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.885G>A	1.37:g.8390438G>A						SLC45A1_ENST00000289877.8_Silent_p.P295P|SLC45A1_ENST00000377479.2_Silent_p.P329P	p.P295P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1270	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	295					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.885G>A	CCDS30577.1																																																																																				0.692	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			10	250	0	0	0	1	0	10	250					A	8390438	G	A	8390438	2	1	79	1	0	0	0	0	0	0	0	1	14690	1074	38	1		1	SLC45A1	1	8390438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527268	8390438	240860183	84	10401											
SLC45A1	50651	broad.mit.edu	37	chr1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccgacggcttctaccGccaggaccgtggacttctgg	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	413					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCTACCGCCAGGACCGT	0.687																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1237-1239)cGc>cAc		solute carrier family 45, member 1							27	29	28					1																	8390791		2202	4299	6501	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390791G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1238G>A	1.37:g.8390791G>A	ENSP00000418096:p.Arg413His					SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H	p.R413H			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1623	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	413					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1238G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745892	0.15710	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.17691	2.27;2.26;2.27	4.45	1.4	0.22301	.	1.298210	0.04555	N	0.390578	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.41790	T	0.15	-13.1605	7.6663	0.28432	0.421:0.0:0.579:0.0	.	413	Q9Y2W3	S45A1_HUMAN	H	413;447;413	ENSP00000418096:R413H;ENSP00000366699:R447H;ENSP00000289877:R413H	ENSP00000289877:R413H	R	+	2	0	SLC45A1	8313378	0.001000	0.12720	0.945000	0.38365	0.434000	0.31775	0.196000	0.17176	-0.000000	0.14550	0.561000	0.74099	CGC		0.687	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			15	279	0	0	0	1	0	15	279					A	8390791	G	A	8390791	3	1	79	1	0	0	0	0	1	0	0	0	14690	1087	38	1	1252	1	SLC45A1	1	8390791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	8390791	240859830	85	10402											
RERE	473	broad.mit.edu	37	chr1	8418946	8418946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagctgtgggtcactgaGgcgaccttcatgcgctgagc	14	11	2	3	rs202220461	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	ENST00000337907.3	-	21	4283	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1217					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCACTGAGGCGACCTTCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15858	0.002		0.0	False		,,,				2504	0.0					ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3649-3651)Ctc>Ttc		arginine-glutamic acid dipeptide (RE) repeats							80	78	79					1																	8418946		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418946G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3649C>T	1.37:g.8418946G>A	ENSP00000338629:p.Leu1217Phe					RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000400907.2_Intron	p.L1217F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4283	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1217					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3649C>T	CCDS95.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	13.97	2.396681	0.42512	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.48201	0.82;0.82;0.82	5.46	5.46	0.80206	.	.	.	.	.	T	0.52224	0.1721	L	0.42245	1.32	0.53688	D	0.999977	D	0.76494	0.999	D	0.73708	0.981	T	0.46091	-0.9216	9	0.18276	T	0.48	-30.6131	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1217	Q9P2R6	RERE_HUMAN	F	1217;949;663;1217	ENSP00000338629:L1217F;ENSP00000366684:L949F;ENSP00000383700:L1217F	ENSP00000338629:L1217F	L	-	1	0	RERE	8341533	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	6.584000	0.74057	2.713000	0.92767	0.655000	0.94253	CTC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			50	533	0	0	0	1	0	50	533					A	8418946	G	A	8418946	3	1	79	1	0	0	0	0	1	0	0	0	13281	1000	35	2	1067	2	RERE	1	8418946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28155	8418946	240831675	86	10403											
RERE	473	broad.mit.edu	37	chr1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcagcaaacctcacctGcgtttttgtcttcttggagc	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	672					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2014-2016)Cag>Tag		arginine-glutamic acid dipeptide (RE) repeats							91	86	88					1																	8421825		2203	4300	6503	SO:0001587	stop_gained	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8421825G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2014C>T	1.37:g.8421825G>A	ENSP00000338629:p.Gln672*					RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000400907.2_Intron	p.Q672*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	18	2648	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	672					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	ENST00000337907.3	37	c.2014C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	43	10.035055	0.99321	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.8783	18.2489	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	672;404;118;672;92	.	ENSP00000338629:Q672X	Q	-	1	0	RERE	8344412	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.951000	0.87819	2.576000	0.86940	0.561000	0.74099	CAG		0.562	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			65	252	0	0	0	1	0	65	252					A	8421825	G	A	8421825	4	1	79	1	0	0	0	0	0	1	0	0	13281	1328	46	2	2714	2	RERE	1	8421825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	8421825	240828796	87	10404											
RERE	473	broad.mit.edu	37	chr1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgggtttgaacataaacGgtggcgggtccacgggcttc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400908.2_Missense_Mutation_p.P553L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	553					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1657-1659)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats							87	82	83					1																	8424198		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424198G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1658C>T	1.37:g.8424198G>A	ENSP00000338629:p.Pro553Leu					RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000400907.2_Intron	p.P553L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2292	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	553					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1658C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	T;T;T	0.50548	0.76;0.74;0.76	5.2	5.2	0.72013	.	.	.	.	.	T	0.63022	0.2476	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.64495	-0.6394	9	0.72032	D	0.01	-20.5155	17.9071	0.88921	0.0:0.0:1.0:0.0	.	285;553	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	553;285;553	ENSP00000338629:P553L;ENSP00000366684:P285L;ENSP00000383700:P553L	ENSP00000338629:P553L	P	-	2	0	RERE	8346785	1.000000	0.71417	0.967000	0.41034	0.226000	0.24999	9.212000	0.95126	2.711000	0.92665	0.561000	0.74099	CCG		0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			26	417	0	0	0	1	0	26	417					A	8424198	G	A	8424198	3	1	79	1	0	0	0	0	1	0	0	0	13281	1116	39	1	3078	1	RERE	1	8424198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2373	8424198	240826423	88	10405											
RERE	473	broad.mit.edu	37	chr1	8716278	8716278	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcactctctcttgctttgtCtcttttctctctctctcggt	4	15	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8716278C>A	ENST00000337907.3	-	3	713	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	RERE_ENST00000400907.2_Missense_Mutation_p.D27Y|RERE_ENST00000400908.2_Missense_Mutation_p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	27					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGCTTTGTCTCTTTTCtct	0.507																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(79-81)Gac>Tac		arginine-glutamic acid dipeptide (RE) repeats							158	161	160					1																	8716278		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716278C>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.79G>T	1.37:g.8716278C>A	ENSP00000338629:p.Asp27Tyr					RERE_ENST00000400908.2_Missense_Mutation_p.D27Y|RERE_ENST00000400907.2_Missense_Mutation_p.D27Y	p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	713	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	27					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.79G>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536675	0.65085	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.51325	0.71;0.71	5.45	5.45	0.79879	.	.	.	.	.	T	0.49253	0.1546	N	0.19112	0.55	0.58432	D	0.999997	D	0.55385	0.971	P	0.54401	0.751	T	0.54794	-0.8240	9	0.87932	D	0	-16.1566	17.8703	0.88808	0.0:1.0:0.0:0.0	.	27	Q9P2R6	RERE_HUMAN	Y	27	ENSP00000338629:D27Y;ENSP00000383700:D27Y	ENSP00000338629:D27Y	D	-	1	0	RERE	8638865	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.240000	0.78192	2.553000	0.86117	0.557000	0.71058	GAC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			21	1210	1	0	1.02788e-11	1	1.09837e-11	21	1210					A	8716278	C	A	8716278	3	1	79	1	0	0	0	0	1	0	0	0	13281	913	32	3	4709	3	RERE	1	8716278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292080	8716278	240534343	89	10406											
ENO1	2023	broad.mit.edu	37	chr1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgatgaaggtatcttcaGtctcccccgaacgatgagac	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	376					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATCTTCAGTCTCCCCCGA	0.547											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1126-1128)aCt>aTt		enolase 1, (alpha)							134	121	126					1																	8923343		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8923343G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1127C>T	1.37:g.8923343G>A	ENSP00000234590:p.Thr376Ile		OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.T376I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1246	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	376					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.1127C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020741	0.93462	.	.	ENSG00000074800	ENST00000234590	T	0.26067	1.76	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98901	4.365	0.58432	D	0.999994	P;D;D;P;D;D	0.89917	0.886;0.999;0.971;0.886;0.999;1.0	D;D;D;D;D;D	0.91635	0.964;0.998;0.964;0.94;0.996;0.999	D	0.83613	0.0135	10	0.87932	D	0	-37.9347	18.2966	0.90148	0.0:0.0:1.0:0.0	.	77;280;214;126;283;376	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	I	376	ENSP00000234590:T376I	ENSP00000234590:T376I	T	-	2	0	ENO1	8845930	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.712000	0.98738	2.586000	0.87340	0.561000	0.74099	ACT		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		8	151	0	0	0	1	0	8	151					A	8923343	G	A	8923343	3	1	79	1	0	0	0	0	1	0	0	0	5139	1029	36	2	189	2	ENO1	1	8923343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207065	8923343	240327278	90	10407											
ENO1	2023	broad.mit.edu	37	chr1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatatagcgagtcttatcaTtgtcccggagctctagggcc	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	52					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTATCATTGTCCCGGAG	0.542											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(154-156)aAt>aTt		enolase 1, (alpha)							180	158	166					1																	8931976		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8931976T>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.155A>T	1.37:g.8931976T>A	ENSP00000234590:p.Asn52Ile		OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.N52I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	3	274	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	52					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.155A>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704455	0.88924	.	.	ENSG00000074800	ENST00000234590	T	0.31247	1.5	5.87	5.87	0.94306	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89785	3.06	0.39911	D	0.974039	B;B	0.31256	0.154;0.316	P;P	0.48795	0.59;0.486	T	0.65903	-0.6055	10	0.87932	D	0	-29.3646	15.0982	0.72253	0.0:0.0:0.0:1.0	.	19;52	A4UCS8;P06733	.;ENOA_HUMAN	I	52	ENSP00000234590:N52I	ENSP00000234590:N52I	N	-	2	0	ENO1	8854563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.174000	0.58256	2.253000	0.74438	0.533000	0.62120	AAT		0.542	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		64	477	0	0	0	1	0	64	477					A	8931976	T	A	8931976	3	1	79	1	0	0	0	0	1	0	0	0	5139	1493	52	5	1189	5	ENO1	1	8931976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8633	8931976	240318645	91	10408											
CA6	765	broad.mit.edu	37	chr1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatcaccgcaacaagaCcatccacaacgattaccgca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377443.2	+	7	777	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T198I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	258					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CGCAACAAGACCATCCACAAC	0.512																																						ENST00000377443.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(772-774)aCc>aTc		carbonic anhydrase VI							153	140	144					1																	9030969		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9030969C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.773C>T	1.37:g.9030969C>T	ENSP00000366662:p.Thr258Ile					CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000377442.2_Missense_Mutation_p.T198I	p.T258I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	7	777	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	258					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.773C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639481	0.29157	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.68025	-0.3;-0.3;-0.3	5.57	3.71	0.42584	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.492459	0.22962	N	0.053539	T	0.73659	0.3615	L	0.56199	1.76	0.24211	N	0.995473	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	T	0.62530	-0.6835	10	0.41790	T	0.15	.	8.7616	0.34678	0.0:0.8251:0.0:0.1749	.	198;258	E7EMQ1;P23280	.;CAH6_HUMAN	I	258;258;198	ENSP00000366662:T258I;ENSP00000366654:T258I;ENSP00000366661:T198I	ENSP00000366654:T258I	T	+	2	0	CA6	8953556	0.992000	0.36948	0.034000	0.17996	0.008000	0.06430	3.136000	0.50554	0.721000	0.32231	0.205000	0.17691	ACC		0.512	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			81	459	0	0	0	1	0	81	459					T	9030969	C	T	9030969	3	4	79	1	0	0	0	0	1	0	0	0	2528	507	18	2	799	2	CA6	1	9030969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98993	9030969	240219652	92	10409											
GPR157	80045	broad.mit.edu	37	chr1	9188913	9188913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaggaggcggccgagagCaggtcggccagcgacaggaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	ENST00000377411.4	-	1	316	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_ENST00000414642.2_Silent_p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGAGAGCAGGTCGGCCA	0.721																																						ENST00000377411.4																			0				lung(4)|prostate(1)	5						c.(172-174)ctG>ctA		G protein-coupled receptor 157							11	11	11					1																	9188913		2182	4280	6462	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188913C>T	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"GPCR / Class B : Orphans"	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.174G>A	1.37:g.9188913C>T						GPR157_ENST00000414642.2_Silent_p.L58L	p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	316	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	58					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.174G>A	CCDS100.2																																																																																				0.721	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		10	45	0	0	0	1	0	10	45					T	9188913	C	T	9188913	2	4	79	1	0	0	0	0	0	0	0	1	6691	697	25	2		2	GPR157	1	9188913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157944	9188913	240061708	93	10410											
H6PD	9563	broad.mit.edu	37	chr1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctctgacagcccccaAgcagggtcaagagctcatgg	12	13	3	2	rs201786227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	71	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		ACAGCCCCCAAGCAGGGTCAA	0.572																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(211-213)aAg>aGg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						63	60	61					1																	9305205		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305205A>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.212A>G	1.37:g.9305205A>G	ENSP00000366620:p.Lys71Arg					H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	p.K71R	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	514	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	71			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.212A>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	a	14.41	2.528407	0.44969	.	.	ENSG00000049239	ENST00000377403	T	0.63255	-0.03	5.31	-0.342	0.12635	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.671439	0.15732	N	0.247370	T	0.45776	0.1359	L	0.38175	1.15	0.09310	N	0.999991	B	0.10296	0.003	B	0.09377	0.004	T	0.33394	-0.9870	10	0.51188	T	0.08	-5.7056	6.1322	0.20211	0.6308:0.1522:0.217:0.0	.	71	O95479	G6PE_HUMAN	R	71	ENSP00000366620:K71R	ENSP00000366620:K71R	K	+	2	0	H6PD	9227792	0.869000	0.29996	0.770000	0.31555	0.936000	0.57629	1.800000	0.38833	-0.129000	0.11620	-0.332000	0.08345	AAG		0.572	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		44	169	0	0	0	1	0	44	169					G	9305205	A	G	9305205	3	3	79	1	0	0	0	0	1	0	0	0	6966	72	3	4	214	4	H6PD	1	9305205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116292	9305205	239945416	94	10411											
H6PD	9563	broad.mit.edu	37	chr1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccctggtggccaacaGcagcttcgacctggtgctgc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	684	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCCAACAGCAGCTTCGAC	0.667																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2050-2052)aGc>aTc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						56	57	57					1																	9324603		2203	4299	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324603G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2051G>T	1.37:g.9324603G>T	ENSP00000366620:p.Ser684Ile					H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	p.S684I	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2353	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	684			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2051G>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533434	0.45073	.	.	ENSG00000049239	ENST00000377403	T	0.45668	0.89	5.72	3.75	0.43078	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.290238	0.43579	D	0.000548	T	0.33585	0.0868	L	0.39692	1.235	0.53688	D	0.999978	B	0.28128	0.201	B	0.35182	0.197	T	0.29882	-0.9997	10	0.72032	D	0.01	-21.6768	4.5196	0.11952	0.0826:0.2441:0.541:0.1322	.	684	O95479	G6PE_HUMAN	I	684	ENSP00000366620:S684I	ENSP00000366620:S684I	S	+	2	0	H6PD	9247190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.360000	0.59455	1.432000	0.47375	-0.258000	0.10820	AGC		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		74	434	1	0	8.70598e-44	1	1.06393e-43	74	434					T	9324603	G	T	9324603	3	4	79	1	0	0	0	0	1	0	0	0	6966	971	34	3	2065	3	H6PD	1	9324603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19398	9324603	239926018	95	10412											
H6PD	9563	broad.mit.edu	37	chr1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccagccacaccgccGcatgagccttagcctgcctc	7	22	0	1	rs370332134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	728	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CCACACCGCCGCATGAGCCTT	0.657																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2182-2184)cGc>cAc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						34	32	33					1																	9324735		2203	4298	6501	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324735G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2183G>A	1.37:g.9324735G>A	ENSP00000366620:p.Arg728His					H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	p.R728H	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2485	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	728			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2183G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883390	0.91740	.	.	ENSG00000049239	ENST00000377403	T	0.71579	-0.58	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.047987	0.85682	D	0.000000	D	0.91284	0.7252	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94410	0.7631	10	0.87932	D	0	-37.7311	18.8652	0.92289	0.0:0.0:1.0:0.0	.	728	O95479	G6PE_HUMAN	H	728	ENSP00000366620:R728H	ENSP00000366620:R728H	R	+	2	0	H6PD	9247322	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.340000	0.97038	2.709000	0.92574	0.561000	0.74099	CGC		0.657	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		23	165	0	0	0	1	0	23	165					A	9324735	G	A	9324735	3	1	79	1	0	0	0	0	1	0	0	0	6966	1087	38	1	2197	1	H6PD	1	9324735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	9324735	239925886	96	10413											
H6PD	9563	broad.mit.edu	37	chr1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgtcctgccgcactccGgccagctggtgtggtacatg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	778	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCACTCCGGCCAGCTGGT	0.647																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2332-2334)Ggc>Agc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						26	28	27					1																	9324884		2190	4277	6467	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324884G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2332G>A	1.37:g.9324884G>A	ENSP00000366620:p.Gly778Ser					H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	p.G778S	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2634	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	778			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2332G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98617	-5.03	5.73	5.73	0.89815	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99913	1.1211	10	0.72032	D	0.01	-39.1146	18.894	0.92416	0.0:0.0:1.0:0.0	.	778	O95479	G6PE_HUMAN	S	778	ENSP00000366620:G778S	ENSP00000366620:G778S	G	+	1	0	H6PD	9247471	1.000000	0.71417	0.935000	0.37517	0.006000	0.05464	7.600000	0.82769	2.716000	0.92895	0.561000	0.74099	GGC		0.647	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		18	226	0	0	0	1	0	18	226					A	9324884	G	A	9324884	3	1	79	1	0	0	0	0	1	0	0	0	6966	1116	39	1	2346	1	H6PD	1	9324884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	9324884	239925737	97	10414											
SPSB1	80176	broad.mit.edu	37	chr1	9416403	9416403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcaaccggctctaccaCgatggcaagaaccagccaag	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	151	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(451-453)caC>caT		splA/ryanodine receptor domain and SOCS box containing 1							88	74	79					1																	9416403		2203	4300	6503	SO:0001819	synonymous_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416403C>T		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.453C>T	1.37:g.9416403C>T						SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	794	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	151			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	c.453C>T	CCDS102.1																																																																																				0.592	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		45	418	0	0	0	1	0	45	418					T	9416403	C	T	9416403	2	4	79	1	0	0	0	0	0	0	0	1	15164	535	19	1		1	SPSB1	1	9416403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91519	9416403	239834218	98	10415											
SPSB1	80176	broad.mit.edu	37	chr1	9416645	9416645	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgaacggactcgatcGtaagtgtctcctctgctgtc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCGATCGTAAGTGTCTC	0.532																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.e2+1		splA/ryanodine receptor domain and SOCS box containing 1							66	66	66					1																	9416645		2203	4300	6503	SO:0001630	splice_region_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416645G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.694+1G>A	1.37:g.9416645G>A						SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site		NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	1035	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Splice_Site	SNP	ENST00000328089.6	37		CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531086	0.64972	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPSB1	9339232	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.799000	0.99117	2.397000	0.81536	0.655000	0.94253	.		0.532	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106	Intron	14	259	0	0	0	1	0	14	259					A	9416645	G	A	9416645	5	1	79	1	0	0	0	0	0	0	1	0	15164	1159	40	1	697	1	SPSB1	1	9416645	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	9416645	239833976	99	10416											
TMEM201	199953	broad.mit.edu	37	chr1	9661306	9661306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactgtgcccctggccctGccacctggtggcaatggctc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340381.6	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000340305.5_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(748-750)ctG>ctA		transmembrane protein 201							44	46	45					1																	9661306		2203	4298	6501	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661306G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.750G>A	1.37:g.9661306G>A						TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	759	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	250					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.750G>A	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223772	0.22457	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.06	0.47325	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	-15.5829	9.92	0.41459	0.0961:0.0:0.9039:0.0	.	.	.	.	T	160	.	.	A	+	1	0	TMEM201	9583893	0.988000	0.35896	0.999000	0.59377	0.943000	0.58893	1.617000	0.36943	1.069000	0.40788	0.563000	0.77884	GCC		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		20	375	0	0	0	1	0	20	375					A	9661306	G	A	9661306	2	1	79	1	0	0	0	0	0	0	0	1	16178	1306	46	2		2	TMEM201	1	9661306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244661	9661306	239589315	100	10417											
TMEM201	199953	broad.mit.edu	37	chr1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgggcgtcgtggcactgGgcctactcacctgcctgctg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340381.6	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000340305.5_Missense_Mutation_p.G304S|TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	304					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGCACTGGGCCTACTCAC	0.672																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(910-912)Ggc>Agc		transmembrane protein 201							37	41	40					1																	9661466		2203	4297	6500	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661466G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.910G>A	1.37:g.9661466G>A	ENSP00000344503:p.Gly304Ser					TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340381.6_Missense_Mutation_p.G304S	p.G304S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	919	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	304					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.910G>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031350|4.031350	0.75504|0.75504	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.70432|0.70432	-0.4873|-0.4873	6|9	.|0.72032	.|D	.|0.01	-37.3398|-37.3398	14.3284|14.3284	0.66534|0.66534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304;304	.|E9PBR6;Q5SNT2-2	.|.;.	E|S	213|304	.|.	.|ENSP00000344772:G304S	G|G	+|+	2|1	0|0	TMEM201|TMEM201	9584053|9584053	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.379000|0.379000	0.30106|0.30106	6.604000|6.604000	0.74150|0.74150	2.160000|2.160000	0.67779|0.67779	0.563000|0.563000	0.77884|0.77884	GGG|GGC		0.672	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		16	364	0	0	0	1	0	16	364					A	9661466	G	A	9661466	3	1	79	1	0	0	0	0	1	0	0	0	16178	1232	43	2	928	2	TMEM201	1	9661466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	9661466	239589155	101	10418											
PIK3CD	5293	broad.mit.edu	37	chr1	9776551	9776551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgctggcgctgatggcCtgtgccctgcggaagaaggc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000377346.4	+	6	849	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000536656.1_Silent_p.A218A|PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	218	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CGCTGATGGCCTGTGCCCTGC	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(652-654)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							46	38	41					1																	9776551		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9776551C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.654C>T	1.37:g.9776551C>T						PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000377346.4_Silent_p.A218A	p.A218A			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	6	862	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	218					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.654C>T	CCDS104.1																																																																																				0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		18	194	0	0	0	1	0	18	194					T	9776551	C	T	9776551	2	4	79	1	0	0	0	0	0	0	0	1	11957	668	24	2		2	PIK3CD	1	9776551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115085	9776551	239474070	102	10419											
PIK3CD	5293	broad.mit.edu	37	chr1	9780047	9780047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaagaccggggaacgCtgcctctacatgtggccctc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000377346.4	+	10	1506	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R	PIK3CD_ENST00000536656.1_Silent_p.R402R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	437	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCGGGGAACGCTGCCTCTACA	0.622																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1204-1206)cgC>cgT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							138	125	130					1																	9780047		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780047C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1311C>T	1.37:g.9780047C>T						PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000377346.4_Silent_p.R437R	p.R402R			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	10	1414	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	437					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1206C>T	CCDS104.1																																																																																				0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		156	706	0	0	0	1	0	156	706					T	9780047	C	T	9780047	2	4	79	1	0	0	0	0	0	0	0	1	11957	784	28	2		2	PIK3CD	1	9780047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3496	9780047	239470574	103	10420											
PIK3CD	5293	broad.mit.edu	37	chr1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagcacttcccggaggCgctagcccggctgctgctgg	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000377346.4	+	13	1829	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTCCCGGAGGCGCTAGCCCGG	0.667																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1705-1707)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							42	45	44					1																	9780912		2202	4298	6500	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780912C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1634C>T	1.37:g.9780912C>T	ENSP00000366563:p.Ala545Val					PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000377346.4_Missense_Mutation_p.A545V	p.A569V			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	13	1914	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	545					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1706C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515702	0.27123	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.43	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.237329	0.42172	D	0.000748	T	0.68063	0.2960	M	0.71206	2.165	0.32002	N	0.603162	B;P;P	0.43885	0.069;0.82;0.683	B;B;B	0.43082	0.045;0.336;0.407	T	0.75572	-0.3271	10	0.41790	T	0.15	-16.7881	14.1326	0.65266	0.0:0.927:0.0:0.073	.	544;569;545	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	569;545;569;569;212	ENSP00000446444:A569V;ENSP00000366563:A545V;ENSP00000354410:A569V;ENSP00000443811:A212V	ENSP00000353766:A569V	A	+	2	0	PIK3CD	9703499	1.000000	0.71417	0.929000	0.37066	0.008000	0.06430	3.927000	0.56499	1.299000	0.44798	0.505000	0.49811	GCG		0.667	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		11	80	0	0	0	1	0	11	80					T	9780912	C	T	9780912	3	4	79	1	0	0	0	0	1	0	0	0	11957	768	27	1	1676	1	PIK3CD	1	9780912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865	9780912	239469709	104	10421											
PIK3CD	5293	broad.mit.edu	37	chr1	9781553	9781553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcaggtgctcaagtaCgagtcctacctggactgcga	13	11	1	0	rs151235777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781553C>T	ENST00000377346.4	+	15	2058	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	PIK3CD_ENST00000536656.1_Silent_p.Y645Y|PIK3CD_ENST00000361110.2_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	621	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TGCTCAAGTACGAGTCCTACC	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19489	0.0		0.0	False		,,,				2504	0.0					ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1933-1935)taC>taT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta		C		1,4405	2.1+/-5.4	0,1,2202	58	57	57		1863	-1.6	0.9	1	dbSNP_134	57	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	PIK3CD	NM_005026.3		0,27,6476	TT,TC,CC		0.3023,0.0227,0.2076		621/1045	9781553	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781553C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1863C>T	1.37:g.9781553C>T						PIK3CD_ENST00000361110.2_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y|PIK3CD_ENST00000377346.4_Silent_p.Y621Y	p.Y645Y			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2143	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	621					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1935C>T	CCDS104.1																																																																																				0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		43	166	0	0	0	1	0	43	166					T	9781553	C	T	9781553	2	4	79	1	0	0	0	0	0	0	0	1	11957	547	19	1		1	PIK3CD	1	9781553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	641	9781553	239469068	105	10422											
PIK3CD	5293	broad.mit.edu	37	chr1	9781612	9781612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgggccctggccaaccGcaagatcggccacttccttt	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781612G>T	ENST00000377346.4	+	15	2117	c.1922G>T	c.(1921-1923)cGc>cTc	p.R641L	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R665L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	641	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTGGCCAACCGCAAGATCGGC	0.622											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1993-1995)cGc>cTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							56	58	57					1																	9781612		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781612G>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1922G>T	1.37:g.9781612G>T	ENSP00000366563:p.Arg641Leu		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R641L	p.R665L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2202	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	641					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1994G>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556184	0.45487	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.72	3.87	0.44632	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.161426	0.52532	D	0.000071	T	0.69415	0.3108	L	0.45698	1.435	0.43099	D	0.994787	P;D;P	0.64830	0.891;0.994;0.942	P;P;P	0.62740	0.745;0.906;0.805	T	0.70988	-0.4722	10	0.72032	D	0.01	-40.8581	11.4631	0.50221	0.1442:0.0:0.8558:0.0	.	640;665;641	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	665;641;665;665;308	ENSP00000446444:R665L;ENSP00000366563:R641L;ENSP00000354410:R665L;ENSP00000443811:R308L	ENSP00000353766:R665L	R	+	2	0	PIK3CD	9704199	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	5.817000	0.69229	0.792000	0.33850	-0.142000	0.14014	CGC		0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		14	200	1	0	3.27435e-08	1	3.41456e-08	14	200					T	9781612	G	T	9781612	3	4	79	1	0	0	0	0	1	0	0	0	11957	1087	38	3	1972	3	PIK3CD	1	9781612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	9781612	239469009	106	10423											
PIK3CD	5293	broad.mit.edu	37	chr1	9782362	9782362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggatcatgtacagcaaCgaggaggcaggcagcggcgg	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9782362C>T	ENST00000377346.4	+	18	2490	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	PIK3CD_ENST00000536656.1_Silent_p.N789N|PIK3CD_ENST00000361110.2_Silent_p.N789N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	765					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TGTACAGCAACGAGGAGGCAG	0.647																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2365-2367)aaC>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							35	35	35					1																	9782362		2202	4300	6502	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782362C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2295C>T	1.37:g.9782362C>T						PIK3CD_ENST00000361110.2_Silent_p.N789N|PIK3CD_ENST00000377346.4_Silent_p.N765N	p.N789N			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	18	2575	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	765			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2367C>T	CCDS104.1																																																																																				0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		5	110	0	0	0	1	0	5	110					T	9782362	C	T	9782362	2	4	79	1	0	0	0	0	0	0	0	1	11957	535	19	1		1	PIK3CD	1	9782362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750	9782362	239468259	107	10424											
CLSTN1	22883	broad.mit.edu	37	chr1	9790629	9790629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttgcgttctgggggtcGccctgctccccctcctcctc	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000361311.4_Silent_p.G951G|CLSTN1_ENST00000477264.1_5'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	961					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGGGGTCGCCCTGCTCCC	0.637																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2881-2883)ggC>ggT		calsyntenin 1							97	82	87					1																	9790629		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9790629G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2883C>T	1.37:g.9790629G>A						CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.G951G	p.G961G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	19	3675	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	961					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.2883C>T	CCDS30580.1																																																																																				0.637	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			15	407	0	0	0	1	0	15	407					A	9790629	G	A	9790629	2	1	79	1	0	0	0	0	0	0	0	1	3570	1074	38	1		1	CLSTN1	1	9790629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8267	9790629	239459992	108	10425											
LZIC	84328	broad.mit.edu	37	chr1	9990509	9990509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagagcaagaattttgtctCcagagcctaagaaaaaagac	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9990509C>A	ENST00000377223.1	-	8	768	c.521G>T	c.(520-522)gGa>gTa	p.G174V	LZIC_ENST00000400903.2_Missense_Mutation_p.G174V|LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	174					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AATTTTGTCTCCAGAGCCTAA	0.313																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(520-522)gGa>gTa		leucine zipper and CTNNBIP1 domain containing							152	165	161					1																	9990509		2203	4300	6503	SO:0001583	missense	84328						beta-catenin binding	g.chr1:9990509C>A	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.521G>T	1.37:g.9990509C>A	ENSP00000366430:p.Gly174Val					LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V	p.G174V			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	8	768	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	174					B2R6F0|B4E2N0|Q96IU1	Missense_Mutation	SNP	ENST00000377223.1	37	c.521G>T	CCDS107.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381272	0.61845	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.47869	0.87;0.87;0.83;0.87	5.58	5.58	0.84498	.	0.048348	0.85682	D	0.000000	T	0.54431	0.1858	L	0.49778	1.585	0.80722	D	1	P;P	0.39352	0.669;0.64	P;B	0.46419	0.516;0.38	T	0.44003	-0.9356	9	.	.	.	-14.9036	19.922	0.97089	0.0:1.0:0.0:0.0	.	195;174	B4E2N0;Q8WZA0	.;LZIC_HUMAN	V	174;174;195;174	ENSP00000366430:G174V;ENSP00000383695:G174V;ENSP00000437432:G195V;ENSP00000366418:G174V	.	G	-	2	0	LZIC	9913096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.848000	0.62874	2.780000	0.95670	0.655000	0.94253	GGA		0.313	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		34	869	1	0	4.3181e-19	1	4.80867e-19	34	869					A	9990509	C	A	9990509	3	1	79	1	0	0	0	0	1	0	0	0	9174	855	30	3	55	3	LZIC	1	9990509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199880	9990509	239260112	109	10426											
UBE4B	10277	broad.mit.edu	37	chr1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaaagattccccactgGcaactagacaccgcgaaatg	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000253251.8	+	17	2868	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCCCCACTGGCAACTAGACA	0.378																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1681-1683)Gca>Aca		ubiquitination factor E4B							75	73	74					1																	10205050		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10205050G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2029G>A	1.37:g.10205050G>A	ENSP00000253251:p.Ala677Thr					UBE4B_ENST00000253251.8_Missense_Mutation_p.A677T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T	p.A561T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	17	2742	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	806						Missense_Mutation	SNP	ENST00000253251.8	37	c.1681G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958480	0.97145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.76	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.986;0.977;0.975	T	0.77178	-0.2683	10	0.59425	D	0.04	-15.8352	20.1047	0.97888	0.0:0.0:1.0:0.0	.	677;806;677	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	677;561;806	ENSP00000253251:A677T;ENSP00000366362:A561T;ENSP00000343001:A806T	ENSP00000253251:A677T	A	+	1	0	UBE4B	10127637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	GCA		0.378	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		19	203	0	0	0	1	0	19	203					A	10205050	G	A	10205050	3	1	79	1	0	0	0	0	1	0	0	0	16937	1203	42	2	2486	2	UBE4B	1	10205050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214541	10205050	239045571	110	10427											
UBE4B	10277	broad.mit.edu	37	chr1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcaccatcatggaccGctccatcatcctgcggcacc	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000253251.8	+	26	4216	c.3377G>A	c.(3376-3378)cGc>cAc	p.R1126H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H|UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H					ubiquitination factor E4B									p.R1126H(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCATGGACCGCTCCATCATC	0.597																																						ENST00000377157.3																			1	Substitution - Missense(1)	p.R1126H(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3040-3042)cGc>cAc		ubiquitination factor E4B							80	82	81					1																	10239537		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10239537G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3377G>A	1.37:g.10239537G>A	ENSP00000253251:p.Arg1126His					UBE4B_ENST00000253251.8_Missense_Mutation_p.R1126H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H	p.R1014H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	26	4102	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1255						Missense_Mutation	SNP	ENST00000253251.8	37	c.3041G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084238	0.97267	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.71222	-0.55;-0.45;-0.5	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.94035	0.7304	10	0.87932	D	0	-18.2393	19.9987	0.97401	0.0:0.0:1.0:0.0	.	1255;1126	O95155;O95155-2	UBE4B_HUMAN;.	H	1126;1014;1255	ENSP00000253251:R1126H;ENSP00000366362:R1014H;ENSP00000343001:R1255H	ENSP00000253251:R1126H	R	+	2	0	UBE4B	10162124	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.819000	0.99357	2.738000	0.93877	0.591000	0.81541	CGC		0.597	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		66	521	0	0	0	1	0	66	521					A	10239537	G	A	10239537	3	1	79	1	0	0	0	0	1	0	0	0	16937	1087	38	1	3870	1	UBE4B	1	10239537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34487	10239537	239011084	111	10428											
KIF1B	23095	broad.mit.edu	37	chr1	10363814	10363814	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctcaaaatggaaaaagtCttgccactgatcggatctca	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363814C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Silent_p.V857V|KIF1B_ENST00000377083.1_Silent_p.V857V|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAAAAAGTCTTGCCACTGA	0.393																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2569-2571)gtC>gtT		kinesin family member 1B							43	47	46					1																	10363814		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363814C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6510C>T	1.37:g.10363814C>T						KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V	p.V857V	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2724	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2571C>T																																																																																					0.393	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			53	219	0	0	0	1	0	53	219					T	10363814	C	T	10363814	1	4	79	0	1	0	0	0	0	0	0	0	8314	900	32	2		2	KIF1B	1	10363814	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124277	10363814	238886807	112	10429											
KIF1B	23095	broad.mit.edu	37	chr1	10363995	10363995	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcttttagacgtggaCgtctgcgctggatgaggcaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363995C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R918C|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R918S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAGACGTGGACGTCTGCGCTG	0.453																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.R918S(1)	lung(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2752-2754)Cgt>Tgt		kinesin family member 1B							60	62	61					1																	10363995		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363995C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6691C>T	1.37:g.10363995C>T						KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C	p.R918C	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2905	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2752C>T		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319410	0.60524	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	D;D	0.82984	-1.67;-1.67	5.62	5.62	0.85841	.	.	.	.	.	D	0.91506	0.7318	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.92142	0.5721	8	0.87932	D	0	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	918	O60333-3	.	C	918	ENSP00000366297:R918C;ENSP00000366287:R918C	ENSP00000366287:R918C	R	+	1	0	KIF1B	10286582	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.720000	0.68470	2.633000	0.89246	0.655000	0.94253	CGT		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			11	262	0	0	0	1	0	11	262					T	10363995	C	T	10363995	1	4	79	0	1	0	0	0	0	0	0	0	8314	536	19	1		1	KIF1B	1	10363995	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	10363995	238886626	113	10430											
KIF1B	23095	broad.mit.edu	37	chr1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcattcgtggatgacGccggctctgacgcagggacg	16	10	1	3	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547																																						ENST00000377086.1																			1	Substitution - Missense(1)	p.A897T(1)	large_intestine(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2827-2829)Gcc>Acc		kinesin family member 1B		G	THR/ALA	0,4406		0,0,2203	138	122	127		2689	3.2	1	1	dbSNP_134	127	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIF1B	NM_015074.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	897/1771	10386320	4,13002	2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386320G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2827G>A	1.37:g.10386320G>A	ENSP00000366290:p.Ala943Thr					KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T	p.A943T			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	3029	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	943					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2827G>A		.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	KIF1B	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC		0.547	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			115	428	0	0	0	1	0	115	428					A	10386320	G	A	10386320	3	1	79	1	0	0	0	0	1	0	0	0	8314	1087	38	1	4272	1	KIF1B	1	10386320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22325	10386320	238864301	114	10431											
KIF1B	23095	broad.mit.edu	37	chr1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaagctgcagttgatgCcatcctctccctaaatatta	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377086.1	+	38	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V			O60333	KIF1B_HUMAN	kinesin family member 1B	1332					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3994-3996)gCc>gTc		kinesin family member 1B							190	186	187					1																	10412734		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10412734C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3995C>T	1.37:g.10412734C>T	ENSP00000366290:p.Ala1332Val					KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000465635.1_3'UTR	p.A1332V			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	38	4197	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1332					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3995C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.414574	0.83449	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.76	5.76	0.90799	.	0.053671	0.64402	D	0.000001	T	0.69287	0.3094	N	0.16656	0.425	0.58432	D	0.999998	B;P;P;P;B;P	0.46327	0.018;0.728;0.873;0.876;0.101;0.621	B;B;P;P;B;B	0.54026	0.032;0.245;0.585;0.74;0.096;0.404	T	0.65240	-0.6216	10	0.23302	T	0.38	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1318;1292;1332;1306;1332;1286	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1332;1286;1332;1332	ENSP00000263934:A1286V;ENSP00000366290:A1332V;ENSP00000366284:A1332V	ENSP00000263934:A1286V	A	+	2	0	KIF1B	10335321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GCC		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			74	318	0	0	0	1	0	74	318					T	10412734	C	T	10412734	3	4	79	1	0	0	0	0	1	0	0	0	8314	739	26	2	5484	2	KIF1B	1	10412734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26414	10412734	238837887	115	10432											
PGD	5226	broad.mit.edu	37	chr1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaatacggcgtacccgtcAccctcattggtaatgttatg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000270776.8	+	8	873	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_ENST00000541529.1_Missense_Mutation_p.T257A|PGD_ENST00000538557.1_Missense_Mutation_p.T266A	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	279					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGTACCCGTCACCCTCATTGG	0.537																																						ENST00000538557.1																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14						c.(796-798)Acc>Gcc		phosphogluconate dehydrogenase							85	67	73					1																	10473299		2203	4300	6503	SO:0001583	missense	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10473299A>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.835A>G	1.37:g.10473299A>G	ENSP00000270776:p.Thr279Ala					PGD_ENST00000270776.8_Missense_Mutation_p.T279A|PGD_ENST00000541529.1_Missense_Mutation_p.T257A	p.T266A			P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	8	1040	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	279					A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.796A>G	CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724706	0.89298	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79424	-0.1809	10	0.87932	D	0	-26.9004	15.1463	0.72653	1.0:0.0:0.0:0.0	.	257;279;279	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	A	257;225;279;266	ENSP00000442285:T257A;ENSP00000270776:T279A;ENSP00000437822:T266A	ENSP00000270776:T279A	T	+	1	0	PGD	10395886	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.224000	0.95209	2.043000	0.60533	0.519000	0.50382	ACC		0.537	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		29	216	0	0	0	1	0	29	216					G	10473299	A	G	10473299	3	3	79	1	0	0	0	0	1	0	0	0	11829	159	6	4	865	4	PGD	1	10473299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60565	10473299	238777322	116	10433											
PEX14	5195	broad.mit.edu	37	chr1	10689807	10689807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccccaggaggaaggCgagggggtggtggacgtcaa	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	ENST00000356607.4	+	9	977	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_ENST00000538836.1_Silent_p.G235G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	299					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGAAGGCGAGGGGGTGG	0.657																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(895-897)ggC>ggT		peroxisomal biogenesis factor 14							126	116	119					1																	10689807		2191	4290	6481	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689807C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.897C>T	1.37:g.10689807C>T						PEX14_ENST00000538836.1_Silent_p.G235G	p.G299G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	977	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	299					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.897C>T	CCDS30582.1																																																																																				0.657	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			14	55	0	0	0	1	0	14	55					T	10689807	C	T	10689807	2	4	79	1	0	0	0	0	0	0	0	1	11784	755	27	1		1	PEX14	1	10689807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216508	10689807	238560814	117	10434											
PEX14	5195	broad.mit.edu	37	chr1	10689966	10689966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggaggaccgccggggCggggatgggcagatcaacga	20	9	1	2	rs372035480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	352					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(1054-1056)ggC>ggT		peroxisomal biogenesis factor 14		C		0,4406		0,0,2203	154	165	162		1056	-4.7	1	1		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX14	NM_004565.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		352/378	10689966	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689966C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1056C>T	1.37:g.10689966C>T						PEX14_ENST00000538836.1_Silent_p.G288G	p.G352G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	1136	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	352					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.1056C>T	CCDS30582.1																																																																																				0.672	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			66	211	0	0	0	1	0	66	211					T	10689966	C	T	10689966	2	4	79	1	0	0	0	0	0	0	0	1	11784	755	27	1		1	PEX14	1	10689966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	10689966	238560655	118	10435											
CASZ1	54897	broad.mit.edu	37	chr1	10699493	10699493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgccgcgctcctgcttctCgtgcttgcgcttgtgcgagt	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10699493C>T	ENST00000377022.3	-	21	5103	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1596					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCCTGCTTCTCGTGCTTGCGC	0.701																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4786-4788)Gag>Aag		castor zinc finger 1							14	18	17					1																	10699493		1970	4146	6116	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699493C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4786G>A	1.37:g.10699493C>T	ENSP00000366221:p.Glu1596Lys					RP4-734G22.3_ENST00000606802.1_RNA	p.E1596K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5103	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1596					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4786G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625625	0.46840	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.1	3.17	0.36434	.	0.000000	0.44285	U	0.000477	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	D	0.55172	0.97	B	0.39805	0.31	T	0.08973	-1.0696	9	0.46703	T	0.11	-3.7018	12.0567	0.53540	0.0:0.9135:0.0:0.0865	.	1596	Q86V15	CASZ1_HUMAN	K	1596	.	ENSP00000366221:E1596K	E	-	1	0	CASZ1	10622080	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	5.532000	0.67154	0.835000	0.34877	0.195000	0.17529	GAG		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		7	52	0	0	0	1	0	7	52					T	10699493	C	T	10699493	3	4	79	1	0	0	0	0	1	0	0	0	2692	893	31	1	497	1	CASZ1	1	10699493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9527	10699493	238551128	119	10436											
CASZ1	54897	broad.mit.edu	37	chr1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccgtagaactggcagtCggctgtgccacagtcttcgg	13	12	1	1	rs201455408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	599					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20415	0.0		0.001	False		,,,				2504	0.0					ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1795-1797)Gac>Aac		castor zinc finger 1							144	128	134					1																	10714519		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714519C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1795G>A	1.37:g.10714519C>T	ENSP00000366221:p.Asp599Asn					CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	p.D599N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2112	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	599					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1795G>A	CCDS41246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.40	3.821316	0.71028	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	.	0.194076	0.53938	D	0.000050	T	0.56514	0.1990	N	0.12746	0.255	0.45464	D	0.998434	P;D;D	0.62365	0.851;0.981;0.991	B;P;P	0.57911	0.147;0.481;0.829	T	0.62139	-0.6917	9	0.44086	T	0.13	-42.6794	18.4056	0.90535	0.0:1.0:0.0:0.0	.	623;599;599	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	599	.	ENSP00000339445:D599N	D	-	1	0	CASZ1	10637106	1.000000	0.71417	0.942000	0.38095	0.790000	0.44656	4.571000	0.60879	2.421000	0.82119	0.561000	0.74099	GAC		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		44	375	0	0	0	1	0	44	375					T	10714519	C	T	10714519	3	4	79	1	0	0	0	0	1	0	0	0	2692	884	31	1	3536	1	CASZ1	1	10714519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15026	10714519	238536102	120	10437											
CASZ1	54897	broad.mit.edu	37	chr1	10720073	10720073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtgcaggtacttgacattCtccaggtcgtacttggatgg	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	342					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1024-1026)gaG>gaA		castor zinc finger 1							81	85	83					1																	10720073		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720073C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1026G>A	1.37:g.10720073C>T						CASZ1_ENST00000344008.5_Silent_p.E342E	p.E342E	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1343	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	342					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1026G>A	CCDS41246.1																																																																																				0.587	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		164	575	0	0	0	1	0	164	575					T	10720073	C	T	10720073	2	4	79	1	0	0	0	0	0	0	0	1	2692	912	32	2		2	CASZ1	1	10720073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5554	10720073	238530548	121	10438											
CASZ1	54897	broad.mit.edu	37	chr1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttgtcttcctcgctgCggggggcccgggctgcccca	14	16	2	0	rs376050510		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	78					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R78H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701																																						ENST00000377022.3																			1	Substitution - Missense(1)	p.R78H(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(232-234)cGc>cTc		castor zinc finger 1							43	53	49					1																	10725412		2123	4218	6341	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725412C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.233G>T	1.37:g.10725412C>A	ENSP00000366221:p.Arg78Leu					CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	p.R78L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	550	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	78					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.233G>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463829	0.43736	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.203933	0.32314	N	0.006272	T	0.24890	0.0604	N	0.04508	-0.205	0.30057	N	0.811243	B;B;B	0.26512	0.002;0.151;0.002	B;B;B	0.25987	0.002;0.065;0.002	T	0.14309	-1.0477	9	0.37606	T	0.19	-17.2461	17.4322	0.87542	0.0:1.0:0.0:0.0	.	102;78;78	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	78	.	ENSP00000339445:R78L	R	-	2	0	CASZ1	10647999	0.750000	0.28316	0.996000	0.52242	0.941000	0.58515	0.655000	0.24933	2.191000	0.70037	0.511000	0.50034	CGC		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		128	400	1	0	2.70824e-66	1	3.42657e-66	128	400					A	10725412	C	A	10725412	3	1	79	1	0	0	0	0	1	0	0	0	2692	768	27	3	5118	3	CASZ1	1	10725412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5339	10725412	238525209	122	10439											
C1orf127	148345	broad.mit.edu	37	chr1	11008344	11008344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctccgttccagagcaCgtttcctggggctctccggg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377008.4	-	11	1793	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	C1orf127_ENST00000377004.4_Silent_p.T616T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	449										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCCAGAGCACGTTTCCTGGG	0.652																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1846-1848)acG>acA		chromosome 1 open reading frame 127							59	68	65					1																	11008344		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11008344C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1347G>A	1.37:g.11008344C>T						C1orf127_ENST00000377008.4_Silent_p.T449T	p.T616T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1847	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	467					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.1848G>A		.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103869	0.06967	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-6.74	0.01743	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.6694	8.9166	0.35585	0.0:0.5712:0.1442:0.2846	.	.	.	.	H	451;568	.	.	R	-	2	0	C1orf127	10930931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-1.442000	0.01955	-1.855000	0.00564	CGT		0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		48	554	0	0	0	1	0	48	554					T	11008344	C	T	11008344	2	4	79	1	0	0	0	0	0	0	0	1	2001	523	19	1		1	C1orf127	1	11008344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282932	11008344	238242277	123	10440											
TARDBP	23435	broad.mit.edu	37	chr1	11082189	11082189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttatagattgcgcaGtctctttgtggagaggactt	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000315091.3_Silent_p.Q241Q|TARDBP_ENST00000439080.2_Silent_p.Q125Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(721-723)caG>caA		TAR DNA binding protein							81	79	80					1																	11082189		2203	4300	6503	SO:0001819	synonymous_variant	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082189G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.723G>A	1.37:g.11082189G>A						TARDBP_ENST00000439080.2_Silent_p.Q125Q|TARDBP_ENST00000315091.3_Silent_p.Q241Q	p.Q241Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	837	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	241			RRM 2.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	37	c.723G>A	CCDS122.1																																																																																				0.333	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		34	306	0	0	0	1	0	34	306					A	11082189	G	A	11082189	2	1	79	1	0	0	0	0	0	0	0	1	15609	1020	36	2		2	TARDBP	1	11082189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73845	11082189	238168432	124	10441											
MASP2	10747	broad.mit.edu	37	chr1	11090932	11090932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcatcaggagggccacaGtcaacaactaagaaagaagc	10	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11090932G>A	ENST00000400897.3	-	9	1110	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	365	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GAGGGCCACAGTCAACAACTA	0.507																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1093-1095)gaC>gaT		mannan-binding lectin serine peptidase 2							76	63	67					1																	11090932		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090932G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1095C>T	1.37:g.11090932G>A							p.D365D	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	9	1110	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	365			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.1095C>T	CCDS123.1																																																																																				0.507	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		8	168	0	0	0	1	0	8	168					A	11090932	G	A	11090932	2	1	79	1	0	0	0	0	0	0	0	1	9364	1020	36	2		2	MASP2	1	11090932	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8743	11090932	238159689	125	10442											
MASP2	10747	broad.mit.edu	37	chr1	11106656	11106656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgtgaacggcttctcGttggagtagtcggagcggaa	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11106656G>A	ENST00000400897.3	-	3	384	c.369C>T	c.(367-369)aaC>aaT	p.N123N	MASP2_ENST00000400898.3_Silent_p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	123	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACGGCTTCTCGTTGGAGTAGT	0.627																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(367-369)aaC>aaT		mannan-binding lectin serine peptidase 2							53	46	48					1																	11106656		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11106656G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.369C>T	1.37:g.11106656G>A						MASP2_ENST00000400898.3_Silent_p.N123N	p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	3	384	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	123			CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.369C>T	CCDS123.1																																																																																				0.627	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		22	149	0	0	0	1	0	22	149					A	11106656	G	A	11106656	2	1	79	1	0	0	0	0	0	0	0	1	9364	1136	40	1		1	MASP2	1	11106656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15724	11106656	238143965	126	10443											
EXOSC10	5394	broad.mit.edu	37	chr1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgcagtagagtttcaGgagatgatcgagtgagtgcc	14	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000376936.4	-	10	1268	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	407					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1219-1221)Ctg>Atg		exosome component 10							211	187	195					1																	11142806		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11142806G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1219C>A	1.37:g.11142806G>T	ENSP00000366135:p.Leu407Met					EXOSC10_ENST00000376936.4_Missense_Mutation_p.L407M|EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M	p.L407M			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	10	1224	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	407					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1219C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918451	0.73098	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.65178	-0.14;-0.14;-0.14	6.07	4.19	0.49359	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.977;0.987	T	0.82651	-0.0352	10	0.66056	D	0.02	-16.9186	12.3392	0.55085	0.1378:0.0:0.8622:0.0	.	407;407	Q01780-2;Q01780	.;EXOSX_HUMAN	M	407	ENSP00000366135:L407M;ENSP00000307307:L407M;ENSP00000439473:L407M	ENSP00000307307:L407M	L	-	1	2	EXOSC10	11065393	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.187000	0.58344	1.572000	0.49736	0.655000	0.94253	CTG		0.463	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		79	594	1	0	9.35349e-44	1	1.14279e-43	79	594					T	11142806	G	T	11142806	3	4	79	1	0	0	0	0	1	0	0	0	5332	991	35	3	1502	3	EXOSC10	1	11142806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36150	11142806	238107815	127	10444											
EXOSC10	5394	broad.mit.edu	37	chr1	11151608	11151608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagccggcagggaggacaGgctgttgattcttgtttaca	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11151608G>T	ENST00000376936.4	-	4	468	c.419C>A	c.(418-420)cCt>cAt	p.P140H	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	140					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGGAGGACAGGCTGTTGATT	0.468																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(418-420)cCt>cAt		exosome component 10							82	82	82					1																	11151608		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151608G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.419C>A	1.37:g.11151608G>T	ENSP00000366135:p.Pro140His					EXOSC10_ENST00000376936.4_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	p.P140H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	424	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	140					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.419C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970680	0.74246	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.928	D	0.83870	0.0273	9	0.72032	D	0.01	-19.5432	19.5478	0.95307	0.0:0.0:1.0:0.0	.	140;140	Q01780-2;Q01780	.;EXOSX_HUMAN	H	140	.	ENSP00000307307:P140H	P	-	2	0	EXOSC10	11074195	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.022000	0.93678	2.868000	0.98415	0.555000	0.69702	CCT		0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		8	223	1	0	0.000673444	1	0.000681208	8	223					T	11151608	G	T	11151608	3	4	79	1	0	0	0	0	1	0	0	0	5332	1000	35	3	2326	3	EXOSC10	1	11151608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8802	11151608	238099013	128	10445											
MTOR	2475	broad.mit.edu	37	chr1	11194521	11194521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgtgctggaaggcatcGatctgtaacaggacaaaggc	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR|MTOR_ENST00000376838.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1711I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGAAGGCATCGATCTGTAACA	0.542																																						ENST00000361445.4																			1	Substitution - coding silent(1)	p.I1711I(1)	large_intestine(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5131-5133)atC>atT		mechanistic target of rapamycin (serine/threonine kinase)							152	111	125					1																	11194521		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11194521G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5133C>T	1.37:g.11194521G>A						MTOR_ENST00000495435.1_5'UTR	p.I1711I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			37	5209	-			1711			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5133C>T	CCDS127.1																																																																																				0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		35	273	0	0	0	1	0	35	273					A	11194521	G	A	11194521	2	1	79	1	0	0	0	0	0	0	0	1	9995	1048	37	1		1	MTOR	1	11194521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42913	11194521	238056100	129	10446											
MTOR	2475	broad.mit.edu	37	chr1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcactcttccacatgTttttcatgtaggcataggtc	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1703	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTCCACATGTTTTTCATGTA	0.498																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5107-5109)aAc>aGc		mechanistic target of rapamycin (serine/threonine kinase)							183	182	182					1																	11199383		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11199383T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5108A>G	1.37:g.11199383T>C	ENSP00000354558:p.Asn1703Ser					MTOR_ENST00000495435.1_5'UTR	p.N1703S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			36	5184	-			1703			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5108A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261750	0.59431	.	.	ENSG00000198793	ENST00000361445	T	0.68765	-0.35	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.103030	0.64402	D	0.000002	T	0.56140	0.1965	N	0.24115	0.695	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.52011	-0.8632	10	0.44086	T	0.13	-19.7299	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1703	P42345	MTOR_HUMAN	S	1703	ENSP00000354558:N1703S	ENSP00000354558:N1703S	N	-	2	0	MTOR	11121970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.555000	0.82223	2.254000	0.74563	0.533000	0.62120	AAC		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		75	664	0	0	0	1	0	75	664					C	11199383	T	C	11199383	3	2	79	1	0	0	0	0	1	0	0	0	9995	1725	60	4	2633	4	MTOR	1	11199383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4862	11199383	238051238	130	10447											
MTOR	2475	broad.mit.edu	37	chr1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgattcggtgtcgcaccaGaactttattcaccattggaa	8	9	1	2	rs35972271|rs199611325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1199					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTCGCACCAGAACTTTATTC	0.398																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(3595-3597)Ctg>Atg		mechanistic target of rapamycin (serine/threonine kinase)							91	83	86					1																	11270930		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11270930G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3595C>A	1.37:g.11270930G>T	ENSP00000354558:p.Leu1199Met						p.L1199M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			24	3671	-			1199					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3595C>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784378	0.31593	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74737	-0.87	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.126361	0.52532	D	0.000065	T	0.61185	0.2327	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55166	-0.8183	10	0.32370	T	0.25	-12.831	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	1199	P42345	MTOR_HUMAN	M	1199	ENSP00000354558:L1199M	ENSP00000354558:L1199M	L	-	1	2	MTOR	11193517	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	2.882000	0.98803	0.655000	0.94253	CTG		0.398	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		47	230	1	0	5.57489e-27	1	6.44243e-27	47	230					T	11270930	G	T	11270930	3	4	79	1	0	0	0	0	1	0	0	0	9995	933	33	3	4194	3	MTOR	1	11270930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71547	11270930	237979691	131	10448											
MTOR	2475	broad.mit.edu	37	chr1	11317062	11317062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcacctcaaattccacGtactcagcggtaaaagtgtc	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	144	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAAATTCCACGTACTCAGCGG	0.577																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(430-432)taC>taT		mechanistic target of rapamycin (serine/threonine kinase)							76	64	68					1																	11317062		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11317062G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.432C>T	1.37:g.11317062G>A							p.Y144Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			4	508	-			144					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.432C>T	CCDS127.1																																																																																				0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		20	113	0	0	0	1	0	20	113					A	11317062	G	A	11317062	2	1	79	1	0	0	0	0	0	0	0	1	9995	1140	40	1		1	MTOR	1	11317062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46132	11317062	237933559	132	10449											
PTCHD2	57540	broad.mit.edu	37	chr1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttaagtcccagtttggatCctgggggcggaaccggcgcg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	132					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTTTGGATCCTGGGGGCGG	0.597																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(394-396)tCc>tTc		patched domain containing 2							40	42	42					1																	11561444		2051	4176	6227	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561444C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.395C>T	1.37:g.11561444C>T	ENSP00000294484:p.Ser132Phe					PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	533	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	132					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.395C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979915	0.92982	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25579	1.79;1.79	5.67	5.67	0.87782	.	0.116909	0.64402	D	0.000012	T	0.36853	0.0982	L	0.29908	0.895	0.53005	D	0.999964	D	0.62365	0.991	P	0.57502	0.822	T	0.09840	-1.0656	10	0.87932	D	0	-35.2713	18.751	0.91814	0.0:1.0:0.0:0.0	.	132	Q9P2K9	PTHD2_HUMAN	F	132	ENSP00000294484:S132F;ENSP00000374226:S132F	ENSP00000294484:S132F	S	+	2	0	PTCHD2	11484031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.623000	0.67757	2.666000	0.90696	0.561000	0.74099	TCC		0.597	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		50	159	0	0	0	1	0	50	159					T	11561444	C	T	11561444	3	4	79	1	0	0	0	0	1	0	0	0	12780	855	30	2	397	2	PTCHD2	1	11561444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244382	11561444	237689177	133	10450											
PTCHD2	57540	broad.mit.edu	37	chr1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgcatctcggcaaccGctcgcggcaagcctcccgag	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	164					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCGGCAACCGCTCGCGGCAA	0.687																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(490-492)cGc>cAc		patched domain containing 2							13	16	15					1																	11561540		1911	4090	6001	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561540G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.491G>A	1.37:g.11561540G>A	ENSP00000294484:p.Arg164His					PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	629	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	164					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.491G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820313	0.16678	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.52	1.32	0.21799	.	0.823009	0.11554	N	0.552444	T	0.10852	0.0265	N	0.08118	0	0.23487	N	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.35871	-0.9771	10	0.19590	T	0.45	-18.9983	5.3673	0.16121	0.243:0.2562:0.5008:0.0	.	164	Q9P2K9	PTHD2_HUMAN	H	164	ENSP00000294484:R164H;ENSP00000374226:R164H	ENSP00000294484:R164H	R	+	2	0	PTCHD2	11484127	0.979000	0.34478	0.985000	0.45067	0.372000	0.29890	0.086000	0.14935	0.292000	0.22492	-0.266000	0.10368	CGC		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		28	117	0	0	0	1	0	28	117					A	11561540	G	A	11561540	3	1	79	1	0	0	0	0	1	0	0	0	12780	1087	38	1	493	1	PTCHD2	1	11561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	11561540	237689081	134	10451											
PTCHD2	57540	broad.mit.edu	37	chr1	11561811	11561811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcccgccgaggcgcctcGcgctgggactactcgcgcgc	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGCGCCTCGCGCTGGGACT	0.701																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(760-762)tcG>tcA		patched domain containing 2							8	9	8					1																	11561811		1929	4106	6035	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561811G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.762G>A	1.37:g.11561811G>A						PTCHD2_ENST00000389575.3_Silent_p.S254S	p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	900	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	254					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.762G>A	CCDS41247.1																																																																																				0.701	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	66	0	0	0	1	0	9	66					A	11561811	G	A	11561811	2	1	79	1	0	0	0	0	0	0	0	1	12780	1074	38	1		1	PTCHD2	1	11561811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271	11561811	237688810	135	10452											
FBXO44	93611	broad.mit.edu	37	chr1	11718605	11718605	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacctgcctcaagtcCcaggtggtggacctcaaggc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000251547.5	+	4	490	c.408C>A	c.(406-408)tcC>tcA	p.S136S	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.P127T|FBXO44_ENST00000376770.1_Silent_p.S136S	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	136	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662																																						ENST00000376768.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(379-381)Cca>Aca		F-box protein 44							30	32	32					1																	11718605		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718605C>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.408C>A	1.37:g.11718605C>A						FBXO44_ENST00000251547.5_Silent_p.S136S|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S|FBXO44_ENST00000376762.4_Intron	p.P127T			Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	481	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.379C>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231723	0.58777	.	.	ENSG00000132879	ENST00000376768	T	0.34072	1.38	5.37	4.35	0.52113	.	1.052530	0.07394	N	0.889643	T	0.28665	0.0710	.	.	.	0.80722	D	1	B	0.26363	0.147	B	0.21360	0.034	T	0.20706	-1.0267	9	0.49607	T	0.09	.	7.6947	0.28587	0.0:0.8095:0.0:0.1905	.	127	B7Z1P2	.	T	127	ENSP00000365959:P127T	ENSP00000365959:P127T	P	+	1	0	FBXO44	11641192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	2.520000	0.84964	0.549000	0.68633	CCA		0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		42	168	1	0	2.66277e-13	1	2.87267e-13	42	168					A	11718605	C	A	11718605	2	1	79	1	0	0	0	0	0	0	0	1	5778	610	22	3		3	FBXO44	1	11718605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156794	11718605	237532016	136	10453											
C1orf187	374946	broad.mit.edu	37	chr1	11766469	11766469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcccagcgctgtggacgCctcaggccagccaccaccgc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766469C>A	ENST00000294485.5	+	2	289	c.154C>A	c.(154-156)Cct>Act	p.P52T		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GCTGTGGACGCCTCAGGCCAG	0.726																																						ENST00000294485.5																			0											c.(154-156)Cct>Act		dorsal inhibitory axon guidance protein							14	18	17					1																	11766469		2202	4294	6496	SO:0001583	missense	374946							g.chr1:11766469C>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein"	612682	"chromosome 1 open reading frame 187"	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.154C>A	1.37:g.11766469C>A	ENSP00000294485:p.Pro52Thr						p.P52T	NM_198545.3	NP_940947.3					2	289	+									Missense_Mutation	SNP	ENST00000294485.5	37	c.154C>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558601	0.03967	.	.	ENSG00000162490	ENST00000294485	T	0.40225	1.04	4.54	3.61	0.41365	.	0.413084	0.22949	N	0.053686	T	0.30324	0.0761	L	0.45581	1.43	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.21724	-1.0237	10	0.02654	T	1	-2.7206	10.3928	0.44184	0.0:0.9061:0.0:0.0939	.	52	Q8NBI3	DRAXI_HUMAN	T	52	ENSP00000294485:P52T	ENSP00000294485:P52T	P	+	1	0	C1orf187	11689056	0.067000	0.21026	0.219000	0.23793	0.081000	0.17604	1.938000	0.40203	0.857000	0.35407	0.313000	0.20887	CCT		0.726	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		38	139	1	0	9.73076e-26	1	1.11809e-25	38	139					A	11766469	C	A	11766469	3	1	79	1	0	0	0	0	1	0	0	0	2028	739	26	3	156	3	C1orf187	1	11766469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47864	11766469	237484152	137	10454											
C1orf187	374946	broad.mit.edu	37	chr1	11766593	11766593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccaggctgccagaggCtgaggggctgctgcctgagc	17	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766593C>A	ENST00000294485.5	+	2	413	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CTGCCAGAGGCTGAGGGGCTG	0.697																																						ENST00000294485.5																			0											c.(277-279)gCt>gAt		dorsal inhibitory axon guidance protein							11	14	13					1																	11766593		2191	4292	6483	SO:0001583	missense	374946							g.chr1:11766593C>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein"	612682	"chromosome 1 open reading frame 187"	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.278C>A	1.37:g.11766593C>A	ENSP00000294485:p.Ala93Asp						p.A93D	NM_198545.3	NP_940947.3					2	413	+									Missense_Mutation	SNP	ENST00000294485.5	37	c.278C>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957444	0.18507	.	.	ENSG00000162490	ENST00000294485	T	0.46063	0.88	3.91	1.56	0.23342	.	0.797324	0.10784	N	0.634574	T	0.34571	0.0902	L	0.51422	1.61	0.09310	N	1	B	0.29716	0.255	B	0.34931	0.192	T	0.32052	-0.9921	10	0.30078	T	0.28	-0.5133	3.845	0.08931	0.0:0.4017:0.2742:0.3241	.	93	Q8NBI3	DRAXI_HUMAN	D	93	ENSP00000294485:A93D	ENSP00000294485:A93D	A	+	2	0	C1orf187	11689180	0.000000	0.05858	0.004000	0.12327	0.194000	0.23727	0.007000	0.13174	0.459000	0.27016	0.313000	0.20887	GCT		0.697	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		23	87	1	0	3.10358e-05	1	3.17146e-05	23	87					A	11766593	C	A	11766593	3	1	79	1	0	0	0	0	1	0	0	0	2028	797	28	3	280	3	C1orf187	1	11766593	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124	11766593	237484028	138	10455											
C1orf187	374946	broad.mit.edu	37	chr1	11775243	11775243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcaacaacaaatgcttCgatgactgcatgtgtgtgga	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11775243C>T	ENST00000294485.5	+	6	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		ACAAATGCTTCGATGACTGCA	0.582																																						ENST00000294485.5																			0											c.(913-915)ttC>ttT		dorsal inhibitory axon guidance protein							180	135	150					1																	11775243		2203	4300	6503	SO:0001819	synonymous_variant	374946							g.chr1:11775243C>T	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein"	612682	"chromosome 1 open reading frame 187"	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.915C>T	1.37:g.11775243C>T							p.F305F	NM_198545.3	NP_940947.3					6	1050	+									Silent	SNP	ENST00000294485.5	37	c.915C>T	CCDS135.1																																																																																				0.582	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		74	247	0	0	0	1	0	74	247					T	11775243	C	T	11775243	2	4	79	1	0	0	0	0	0	0	0	1	2028	883	31	1		1	C1orf187	1	11775243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8650	11775243	237475378	139	10456											
MTHFR	4524	broad.mit.edu	37	chr1	11860309	11860309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtcaccaaactcacttcgGatgtgcttcaccaggtccac	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	182					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(544-546)atC>atT		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						369	278	309					1																	11860309		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860309G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.546C>T	1.37:g.11860309G>A						MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376583.3_Silent_p.I223I|MTHFR_ENST00000376585.1_Silent_p.I223I	p.I182I			P42898	MTHR_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)	3	674	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	182					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.546C>T	CCDS137.1																																																																																				0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		139	589	0	0	0	1	0	139	589					A	11860309	G	A	11860309	2	1	79	1	0	0	0	0	0	0	0	1	9972	1164	41	2		2	MTHFR	1	11860309	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85066	11860309	237390312	140	10457											
MTHFR	4524	broad.mit.edu	37	chr1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggggttgaggctgctgTttcctctggcttcgttcacc	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	8					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(22-24)aAc>aGc		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						68	51	57					1																	11863151		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11863151T>C	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.23A>G	1.37:g.11863151T>C	ENSP00000365777:p.Asn8Ser					MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S	p.N8S			P42898	MTHR_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)	1	151	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	8					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.23A>G	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	2.368	-0.344945	0.05208	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	T;T;T;T;T	0.81163	-1.45;-1.46;-1.45;-1.46;-1.28	4.65	-5.71	0.02413	.	0.791526	0.11932	N	0.515610	T	0.40546	0.1121	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44267	-0.9339	10	0.87932	D	0	.	4.1016	0.10015	0.0988:0.4522:0.2167:0.2323	.	8;49	P42898;Q5SNW6	MTHR_HUMAN;.	S	8;49;8;49;8;8;31;8;8	ENSP00000365777:N8S;ENSP00000365767:N49S;ENSP00000365775:N8S;ENSP00000365770:N49S;ENSP00000405082:N8S	ENSP00000365669:N8S	N	-	2	0	MTHFR	11785738	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.301000	0.08232	-1.019000	0.03358	-1.295000	0.01343	AAC		0.632	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		9	62	0	0	0	1	0	9	62					C	11863151	T	C	11863151	3	2	79	1	0	0	0	0	1	0	0	0	9972	1725	60	4	1991	4	MTHFR	1	11863151	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2842	11863151	237387470	141	10458											
CLCN6	1185	broad.mit.edu	37	chr1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagcatcctgcgcaccaCggtccaccatgccttcccgg	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGCACCACGGTCCACCAT	0.582																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1882-1884)aCg>aTg		chloride channel, voltage-sensitive 6							146	106	119					1																	11896113		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11896113C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1883C>T	1.37:g.11896113C>T	ENSP00000234488:p.Thr628Met					CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M|CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR	p.T628M	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	1935	+	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)	628			CBS 1.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1883C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872035	0.91587	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	5.71	0.89125	Cystathionine beta-synthase, core (3);	0.046638	0.85682	D	0.000000	D	0.91626	0.7354	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92515	0.6020	10	0.87932	D	0	-21.6503	18.8314	0.92141	0.0:1.0:0.0:0.0	.	606;628	F8W9R3;P51797	.;CLCN6_HUMAN	M	628;606;628	ENSP00000234488:T628M;ENSP00000365670:T606M;ENSP00000365679:T628M	ENSP00000234488:T628M	T	+	2	0	CLCN6	11818700	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	7.487000	0.81328	2.700000	0.92200	0.462000	0.41574	ACG		0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		6	115	0	0	0	1	0	6	115					T	11896113	C	T	11896113	3	4	79	1	0	0	0	0	1	0	0	0	3476	536	19	1	1963	1	CLCN6	1	11896113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32962	11896113	237354508	142	10459											
CLCN6	1185	broad.mit.edu	37	chr1	11898394	11898394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggttggaattgcagagCgccagccagccgcgcctctc	13	14	2	1	rs531440933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376487.3_Silent_p.S744S|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.S766S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16793	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2296-2298)agC>agT		chloride channel, voltage-sensitive 6							47	47	47					1																	11898394		2202	4300	6502	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898394C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2298C>T	1.37:g.11898394C>T			OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376496.3_Silent_p.S766S|CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR	p.S766S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2350	+	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)	766					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2298C>T	CCDS138.1																																																																																				0.642	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		19	171	0	0	0	1	0	19	171					T	11898394	C	T	11898394	2	4	79	1	0	0	0	0	0	0	0	1	3476	767	27	1		1	CLCN6	1	11898394	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2281	11898394	237352227	143	10460											
CLCN6	1185	broad.mit.edu	37	chr1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcgccacctgcccGtggtgaacgctgtgggagag	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	837	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTGCCCGTGGTGAACGC	0.622											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2509-2511)Gtg>Atg		chloride channel, voltage-sensitive 6							105	93	97					1																	11898697		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898697G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2509G>A	1.37:g.11898697G>A	ENSP00000234488:p.Val837Met		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M|CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000312413.6_3'UTR	p.V837M	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	22	2561	+	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)	837			CBS 2.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2509G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049858	0.93740	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.98531	-4.98;-4.98;-4.98	5.4	5.4	0.78164	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97391	0.9989	10	0.72032	D	0.01	-31.6049	18.1816	0.89780	0.0:0.0:1.0:0.0	.	815;837	F8W9R3;P51797	.;CLCN6_HUMAN	M	837;815;837	ENSP00000234488:V837M;ENSP00000365670:V815M;ENSP00000365679:V837M	ENSP00000234488:V837M	V	+	1	0	CLCN6	11821284	1.000000	0.71417	0.953000	0.39169	0.894000	0.52154	9.476000	0.97823	2.536000	0.85505	0.561000	0.74099	GTG		0.622	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		49	402	0	0	0	1	0	49	402					A	11898697	G	A	11898697	3	1	79	1	0	0	0	0	1	0	0	0	3476	1145	40	1	2605	1	CLCN6	1	11898697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	11898697	237351924	144	10461											
KIAA2013	90231	broad.mit.edu	37	chr1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttagttcactcagacactggGatcttcctgttcaattcaca	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	632						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1894-1896)Ccc>Acc		KIAA2013							177	156	163					1																	11980383		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11980383G>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1894C>A	1.37:g.11980383G>T	ENSP00000365756:p.Pro632Thr						p.P632T	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	2079	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	632					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1894C>A	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879388	0.33162	.	.	ENSG00000116685	ENST00000376572	.	.	.	5.64	4.72	0.59763	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.32798	-0.9893	8	0.45353	T	0.12	.	14.0044	0.64453	0.0:0.1512:0.8488:0.0	.	632	Q8IYS2	K2013_HUMAN	T	632	.	ENSP00000365756:P632T	P	-	1	0	KIAA2013	11902970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.176000	0.58269	1.363000	0.46019	0.655000	0.94253	CCC		0.502	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		57	542	1	0	1.95512e-22	1	2.21276e-22	57	542					T	11980383	G	T	11980383	3	4	79	1	0	0	0	0	1	0	0	0	8297	1174	41	3	14	3	KIAA2013	1	11980383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81686	11980383	237270238	145	10462											
PLOD1	5351	broad.mit.edu	37	chr1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgacctggcctttgtcGtccgctacaagcctgatgag	11	11	0	3	rs149425237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	643	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				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)			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)	GGCCTTTGTCGTCCGCTACAA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18483	0.0		0.001	False		,,,				2504	0.0					ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1927-1929)Gtc>Atc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	146	116	126		1927	5.4	0.9	1	dbSNP_134	126	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PLOD1	NM_000302.3	29	0,13,6490	AA,AG,GG		0.1163,0.0681,0.1	probably-damaging	643/728	12032953	13,12993	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.chr1:12032953G>A	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.1927G>A	1.37:g.12032953G>A	ENSP00000196061:p.Val643Ile					PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	p.V643I	NM_000302.3	NP_000293.2	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)	18	1954	+	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)	643			Fe2OG dioxygenase.		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1927G>A	CCDS142.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.292109	0.95546	6.81E-4	0.001163	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.91341	0.5097	10	0.87932	D	0	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	690;643	B4DR87;Q02809	.;PLOD1_HUMAN	I	307;690;643	ENSP00000365548:V690I;ENSP00000196061:V643I	ENSP00000196061:V643I	V	+	1	0	PLOD1	11955540	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	9.854000	0.99522	2.552000	0.86080	0.549000	0.68633	GTC		0.577	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		38	351	0	0	0	1	0	38	351					A	12032953	G	A	12032953	3	1	79	1	0	0	0	0	1	0	0	0	12143	1145	40	1	1997	1	PLOD1	1	12032953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52570	12032953	237217668	146	10463											
MFN2	9927	broad.mit.edu	37	chr1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctatccaaagtgagagGcatcagtgaggtgctggctc	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000444836.1_Missense_Mutation_p.G87D|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	87					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(259-261)gGc>gAc		mitofusin 2							249	225	233					1																	12052696		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052696G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.260G>A	1.37:g.12052696G>A	ENSP00000235329:p.Gly87Asp					MFN2_ENST00000444836.1_Missense_Mutation_p.G87D|MFN2_ENST00000497302.1_3'UTR	p.G87D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	582	+	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)	87					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.260G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788652	0.90367	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.53;-3.53;-3.72	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D	0.54772	0.968	P	0.52267	0.694	D	0.94998	0.8140	10	0.29301	T	0.29	-28.61	18.3893	0.90477	0.0:0.0:1.0:0.0	.	87	O95140	MFN2_HUMAN	D	87	ENSP00000416338:G87D;ENSP00000235329:G87D;ENSP00000412023:G87D	ENSP00000235329:G87D	G	+	2	0	MFN2	11975283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.335000	0.72949	2.588000	0.87417	0.561000	0.74099	GGC		0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		185	832	0	0	0	1	0	185	832					A	12052696	G	A	12052696	3	1	79	1	0	0	0	0	1	0	0	0	9565	1203	42	2	266	2	MFN2	1	12052696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19743	12052696	237197925	147	10464											
TNFRSF8	943	broad.mit.edu	37	chr1	12186098	12186098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggagggcctgcaggaagcGaattcggcagagtaagtggc	17	9	0	1	rs548102737	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12186098G>A	ENST00000263932.2	+	11	1466	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	415					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)			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)	TGCAGGAAGCGAATTCGGCAG	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17658	0.0		0.0	False		,,,				2504	0.002					ENST00000263932.2																			0				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						c.(1243-1245)cGa>cAa		tumor necrosis factor receptor superfamily, member 8							129	120	123					1																	12186098		2203	4300	6503	SO:0001583	missense	0				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.chr1:12186098G>A	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.1244G>A	1.37:g.12186098G>A	ENSP00000263932:p.Arg415Gln					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	p.R415Q	NM_001243.3	NP_001234.2	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)	11	1466	+	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)	415					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1244G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470834	0.26423	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.09255	3.0;3.0	4.33	2.45	0.29901	.	55.233600	0.00166	N	0.000000	T	0.12050	0.0293	L	0.50333	1.59	0.24342	N	0.994955	B;B	0.29508	0.013;0.246	B;B	0.12837	0.002;0.008	T	0.26608	-1.0098	10	0.38643	T	0.18	-7.3849	6.8545	0.24032	0.2129:0.0:0.7871:0.0	.	304;415	D3YTD8;P28908	.;TNR8_HUMAN	Q	415;304	ENSP00000263932:R415Q;ENSP00000390650:R304Q	ENSP00000263932:R415Q	R	+	2	0	TNFRSF8	12108685	0.997000	0.39634	0.289000	0.24876	0.896000	0.52359	1.760000	0.38430	0.590000	0.29694	-0.150000	0.13652	CGA		0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			9	538	0	0	0	1	0	9	538					A	12186098	G	A	12186098	3	1	79	1	0	0	0	0	1	0	0	0	16351	1058	37	1	1286	1	TNFRSF8	1	12186098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133402	12186098	237064523	148	10465											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagcacatacacccaGctctggaactgggttcccga	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	85					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CATACACCCAGCTCTGGAACT	0.567																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(253-255)caG>caT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						148	147	147					1																	12251090		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251090G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.255G>T	1.37:g.12251090G>T	ENSP00000365435:p.Gln85His					TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H	p.Q85H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	3	344	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	85					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.255G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074733	0.36566	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.90788	-2.73;-2.73	4.1	4.1	0.47936	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.459943	0.22611	N	0.057824	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	0.999991	D	0.57571	0.98	P	0.47346	0.544	T	0.82744	-0.0306	10	0.54805	T	0.06	-3.5724	12.0529	0.53518	0.0:0.0:1.0:0.0	.	85	P20333	TNR1B_HUMAN	H	85	ENSP00000365435:Q85H;ENSP00000440425:Q85H	ENSP00000365435:Q85H	Q	+	3	2	TNFRSF1B	12173677	0.713000	0.27926	0.452000	0.26994	0.212000	0.24457	1.180000	0.32005	2.312000	0.78011	0.655000	0.94253	CAG		0.567	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		75	784	1	0	6.06247e-24	1	6.9123e-24	75	784					T	12251090	G	T	12251090	3	4	79	1	0	0	0	0	1	0	0	0	16346	962	34	3	265	3	TNFRSF1B	1	12251090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64992	12251090	236999531	149	10466											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12252968	12252968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcatggatgcagtctgCacgtccacgtcccccacccg	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	200					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGCAGTCTGCACGTCCACGT	0.627																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(598-600)tgC>tgT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						152	112	125					1																	12252968		2203	4300	6503	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12252968C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.600C>T	1.37:g.12252968C>T						TNFRSF1B_ENST00000492361.1_3'UTR	p.C200C	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	6	689	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	200					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.600C>T	CCDS145.1																																																																																				0.627	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		12	170	0	0	0	1	0	12	170					T	12252968	C	T	12252968	2	4	79	1	0	0	0	0	0	0	0	1	16346	718	25	2		2	TNFRSF1B	1	12252968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878	12252968	236997653	150	10467											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12266843	12266843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcaatgtcacctgcatCgtgaacgtctgtagcagctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	384					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCACCTGCATCGTGAACGTCT	0.617																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1150-1152)atC>atT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						118	100	106					1																	12266843		2203	4300	6503	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12266843C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1152C>T	1.37:g.12266843C>T						TNFRSF1B_ENST00000492361.1_3'UTR	p.I384I	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	10	1241	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	384					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.1152C>T	CCDS145.1																																																																																				0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		77	307	0	0	0	1	0	77	307					T	12266843	C	T	12266843	2	4	79	1	0	0	0	0	0	0	0	1	16346	874	31	1		1	TNFRSF1B	1	12266843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13875	12266843	236983778	151	10468											
VPS13D	55187	broad.mit.edu	37	chr1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccaatccctcccatcCttttgcttttggcatctgca	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCCCATCCTTTTGCTTTT	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(505-507)cCt>cAt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							178	147	157					1																	12309338		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12309338C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.506C>A	1.37:g.12309338C>A	ENSP00000350854:p.Pro169His					VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	p.P169H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	6	636	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	169						Missense_Mutation	SNP	ENST00000358136.3	37	c.506C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292486	0.59976	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60548	0.18;0.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.74034	-0.3794	10	0.62326	D	0.03	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	169;169	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	H	169	ENSP00000348666:P169H;ENSP00000350854:P169H	ENSP00000348666:P169H	P	+	2	0	VPS13D	12231925	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.227000	0.65305	2.573000	0.86826	0.555000	0.69702	CCT		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		17	213	1	0	1.99824e-07	1	2.07512e-07	17	213					A	12309338	C	A	12309338	3	1	79	1	0	0	0	0	1	0	0	0	17246	681	24	3	524	3	VPS13D	1	12309338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42495	12309338	236941283	152	10469											
VPS13D	55187	broad.mit.edu	37	chr1	12368618	12368618	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctgatcttcccttcCtattttgtgcgacagacagg	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTCCCTTCCTATTTTGTGC	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6568-6570)tcC>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							174	167	169					1																	12368618		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12368618C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6570C>A	1.37:g.12368618C>A						VPS13D_ENST00000356315.4_Silent_p.S2190S	p.S2190S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6700	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2190						Silent	SNP	ENST00000358136.3	37	c.6570C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909829	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	4	.	.	.	.	8.5528	0.33462	0.1482:0.771:0.0:0.0809	.	.	.	.	H	1013	.	.	P	+	2	0	VPS13D	12291205	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	0.658000	0.24979	1.274000	0.44362	-0.355000	0.07637	CCT		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		84	639	1	0	6.44939e-38	1	7.75849e-38	84	639					A	12368618	C	A	12368618	2	1	79	1	0	0	0	0	0	0	0	1	17246	668	24	3		3	VPS13D	1	12368618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59280	12368618	236882003	153	10470											
VPS13D	55187	broad.mit.edu	37	chr1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaggaagcctcttaaccGagccttgtaggctgaaattg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTTAACCGAGCCTTGTAG	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6607-6609)Gag>Aag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							143	141	142					1																	12368655		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12368655G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6607G>A	1.37:g.12368655G>A	ENSP00000350854:p.Glu2203Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	p.E2203K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6737	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2203						Missense_Mutation	SNP	ENST00000358136.3	37	c.6607G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566759	0.96540	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.052127	0.85682	D	0.000000	T	0.64271	0.2583	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.56962	-0.7892	10	0.27082	T	0.32	.	19.6382	0.95746	0.0:0.0:1.0:0.0	.	2203;2203	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2203	ENSP00000348666:E2203K;ENSP00000350854:E2203K	ENSP00000348666:E2203K	E	+	1	0	VPS13D	12291242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.636000	0.89361	0.650000	0.86243	GAG		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		64	555	0	0	0	1	0	64	555					A	12368655	G	A	12368655	3	1	79	1	0	0	0	0	1	0	0	0	17246	1059	37	1	6709	1	VPS13D	1	12368655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	12368655	236881966	154	10471											
VPS13D	55187	broad.mit.edu	37	chr1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattagagaacaacctgggaGaacccatagaggaatttatg	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCTGGGAGAACCCATAGA	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6769-6771)Gaa>Aaa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							132	135	134					1																	12371629		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371629G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6769G>A	1.37:g.12371629G>A	ENSP00000350854:p.Glu2257Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	p.E2257K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6899	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2257						Missense_Mutation	SNP	ENST00000358136.3	37	c.6769G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672011	0.96754	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.72852	-0.4167	10	0.72032	D	0.01	.	19.7435	0.96241	0.0:0.0:1.0:0.0	.	2257;2257	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2257	ENSP00000348666:E2257K;ENSP00000350854:E2257K	ENSP00000348666:E2257K	E	+	1	0	VPS13D	12294216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	GAA		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		68	662	0	0	0	1	0	68	662					A	12371629	G	A	12371629	3	1	79	1	0	0	0	0	1	0	0	0	17246	943	33	2	6875	2	VPS13D	1	12371629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	12371629	236878992	155	10472											
VPS13D	55187	broad.mit.edu	37	chr1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccattccatgatggcttttGacacccgttatgctgggcag	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGGCTTTTGACACCCGTTA	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7027-7029)Gac>Aac		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93	90	91					1																	12374263		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12374263G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7027G>A	1.37:g.12374263G>A	ENSP00000350854:p.Asp2343Asn					VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	p.D2343N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7157	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2343						Missense_Mutation	SNP	ENST00000358136.3	37	c.7027G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356181	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.71034	-0.4709	10	0.66056	D	0.02	.	19.2035	0.93720	0.0:0.0:1.0:0.0	.	250;2343;2343	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	N	2343	ENSP00000348666:D2343N;ENSP00000350854:D2343N	ENSP00000348666:D2343N	D	+	1	0	VPS13D	12296850	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GAC		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		23	204	0	0	0	1	0	23	204					A	12374263	G	A	12374263	3	1	79	1	0	0	0	0	1	0	0	0	17246	1290	45	2	7141	2	VPS13D	1	12374263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2634	12374263	236876358	156	10473											
VPS13D	55187	broad.mit.edu	37	chr1	12395787	12395787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtaagtaccaaggaatcGtggatggcagattactgtaa	11	5	0	1	rs374262916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAATCGTGGATGGCAG	0.408																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8452-8454)tcG>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)		G	,	0,4406		0,0,2203	136	133	134		8454,8454	-11.2	0	1		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2818/4389,2818/4364	12395787	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12395787G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8454G>A	1.37:g.12395787G>A						VPS13D_ENST00000356315.4_Silent_p.S2818S	p.S2818S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	39	8584	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2818						Silent	SNP	ENST00000358136.3	37	c.8454G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532045	0.13127	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63005	-0.6733	4	.	.	.	.	9.2345	0.37457	0.5866:0.251:0.1053:0.057	.	.	.	.	H	1641	.	.	R	+	2	0	VPS13D	12318374	0.000000	0.05858	0.026000	0.17262	0.978000	0.69477	-1.834000	0.01693	-3.631000	0.00129	-0.710000	0.03640	CGT		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	401	0	0	0	1	0	45	401					A	12395787	G	A	12395787	2	1	79	1	0	0	0	0	0	0	0	1	17246	1132	40	1		1	VPS13D	1	12395787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21524	12395787	236854834	157	10474											
VPS13D	55187	broad.mit.edu	37	chr1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccatccggattgtgtgtcGagcagaaggatccttaaaga	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTGTGTGTCGAGCAGAAGGA	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9811-9813)cGa>cAa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							127	115	119					1																	12416088		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416088G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9812G>A	1.37:g.12416088G>A	ENSP00000350854:p.Arg3271Gln					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	p.R3271Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	48	9942	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3270						Missense_Mutation	SNP	ENST00000358136.3	37	c.9812G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150367|5.150367	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.49887	.|0.625;0.526	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.17369	.|T	.|0.5	.|.	20.2617|20.2617	0.98447|0.98447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3246;3270	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	K|Q	2093|3246;3271	.|ENSP00000348666:R3246Q;ENSP00000350854:R3271Q	.|ENSP00000348666:R3246Q	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12338675|12338675	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		75	272	0	0	0	1	0	75	272					A	12416088	G	A	12416088	3	1	79	1	0	0	0	0	1	0	0	0	17246	1058	37	1	9998	1	VPS13D	1	12416088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20301	12416088	236834533	158	10475											
DHRS3	9249	broad.mit.edu	37	chr1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctgctcactgacctgActctcatgccctggaacatc	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	232					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582																																						ENST00000376223.2																			0				cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(694-696)gTc>gGc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						59	53	55					1																	12638749		2203	4300	6503	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12638749A>C	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.695T>G	1.37:g.12638749A>C	ENSP00000365397:p.Val232Gly						p.V232G	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	4	1078	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	232					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.695T>G	CCDS146.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630471	0.67015	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89196	-2.48;-1.4	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.165909	0.52532	D	0.000074	D	0.85691	0.5755	L	0.47716	1.5	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.6559	0.77133	1.0:0.0:0.0:0.0	.	232	O75911	DHRS3_HUMAN	G	232;147	ENSP00000365397:V232G;ENSP00000387903:V147G	ENSP00000365397:V232G	V	-	2	0	DHRS3	12561336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.952000	0.93031	2.091000	0.63221	0.482000	0.46254	GTC		0.582	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		22	258	0	0	0	1	0	22	258					C	12638749	A	C	12638749	3	2	79	1	0	0	0	0	1	0	0	0	4507	275	10	4	225	4	DHRS3	1	12638749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	222661	12638749	236611872	159	10476											
AADACL4	343066	broad.mit.edu	37	chr1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggtccgcgtgacatgGtaccacctgtatgatggttt	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	369						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCGTGACATGGTACCACCTGT	0.478																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1105-1107)tgG>tgA		arylacetamide deacetylase-like 4							87	89	88					1																	12726629		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12726629G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1107G>A	1.37:g.12726629G>A	ENSP00000365395:p.Trp369*						p.W369*	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1107	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	369						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.1107G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311381	0.23821	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.53	1.47	0.22746	.	0.068503	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6505	5.0584	0.14544	0.0817:0.1461:0.621:0.1512	.	.	.	.	X	369	.	ENSP00000365395:W369X	W	+	3	0	AADACL4	12649216	0.994000	0.37717	0.004000	0.12327	0.020000	0.10135	2.300000	0.43620	0.120000	0.18254	0.655000	0.94253	TGG		0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		65	541	0	0	0	1	0	65	541					A	12726629	G	A	12726629	4	1	79	1	0	0	0	0	0	1	0	0	13	1270	44	2	1121	2	AADACL4	1	12726629	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87880	12726629	236523992	160	10477											
AADACL4	343066	broad.mit.edu	37	chr1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttttttgataagaaggCtctctctttcccatgttccc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1159-1161)gCt>gTt		arylacetamide deacetylase-like 4							65	71	69					1																	12726682		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726682C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1160C>T	1.37:g.12726682C>T	ENSP00000365395:p.Ala387Val						p.A387V	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1160	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	387						Missense_Mutation	SNP	ENST00000376221.1	37	c.1160C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	4.428	0.079249	0.08533	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	4.53	-9.05	0.00730	.	1.865950	0.02502	N	0.090580	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36553	-0.9743	10	0.17369	T	0.5	12.6824	3.0524	0.06173	0.1666:0.3435:0.341:0.1489	.	387	Q5VUY2	ADCL4_HUMAN	V	387	ENSP00000365395:A387V	ENSP00000365395:A387V	A	+	2	0	AADACL4	12649269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.630000	0.00032	-3.514000	0.00149	-0.882000	0.02950	GCT		0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		54	494	0	0	0	1	0	54	494					T	12726682	C	T	12726682	3	4	79	1	0	0	0	0	1	0	0	0	13	797	28	2	1174	2	AADACL4	1	12726682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	12726682	236523939	161	10478											
AADACL3	126767	broad.mit.edu	37	chr1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttattttctagaaacccaCcatggcatatgctctcgttt	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000359318.5	+	3	427	c.222C>A	c.(220-222)caC>caA	p.H74Q	AADACL3_ENST00000332530.3_Missense_Mutation_p.H4Q	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	74							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAACCCACCATGGCATAT	0.507																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(10-12)caC>caA		arylacetamide deacetylase-like 3							108	110	109					1																	12780892		1898	4124	6022	SO:0001583	missense	126767						hydrolase activity	g.chr1:12780892C>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.222C>A	1.37:g.12780892C>A	ENSP00000352268:p.His74Gln					AADACL3_ENST00000359318.5_Missense_Mutation_p.H74Q	p.H4Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	238	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	74					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.12C>A	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769079	0.49680	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.23	2.27	0.28462	Alpha/beta hydrolase fold-3 (1);	0.855661	0.10581	N	0.657924	T	0.34919	0.0914	M	0.90814	3.15	0.09310	N	1	B;D	0.62365	0.04;0.991	B;D	0.64506	0.062;0.926	T	0.09357	-1.0678	10	0.66056	D	0.02	-0.5016	7.4747	0.27369	0.0:0.5493:0.0:0.4507	.	74;4	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	Q	4;74	ENSP00000333352:H4Q;ENSP00000352268:H74Q	ENSP00000333352:H4Q	H	+	3	2	AADACL3	12703479	0.001000	0.12720	0.002000	0.10522	0.976000	0.68499	0.092000	0.15066	0.196000	0.20367	0.491000	0.48974	CAC		0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		84	386	1	0	2.5963e-48	1	3.20365e-48	84	386					A	12780892	C	A	12780892	3	1	79	1	0	0	0	0	1	0	0	0	12	506	18	3	236	3	AADACL3	1	12780892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54210	12780892	236469729	162	10479											
C1orf158	93190	broad.mit.edu	37	chr1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacatcgctacctgatcaGcacctatgacgaccattaca	5	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	96										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562																																						ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(286-288)aGc>aAc		chromosome 1 open reading frame 158							206	206	206					1																	12819304		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819304G>A	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.287G>A	1.37:g.12819304G>A	ENSP00000288048:p.Ser96Asn					C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	p.S96N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_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;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	503	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	96					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.287G>A	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804930	0.70682	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.62788	0.0;0.25	5.17	5.17	0.71159	.	0.115133	0.56097	D	0.000026	T	0.78898	0.4356	M	0.79475	2.455	0.50171	D	0.999856	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.81625	-0.0848	10	0.87932	D	0	-32.5078	14.1817	0.65578	0.0:0.0:1.0:0.0	.	96;96	B4DQE0;Q8N1D5	.;CA158_HUMAN	N	96;58	ENSP00000288048:S96N;ENSP00000365383:S58N	ENSP00000288048:S96N	S	+	2	0	C1orf158	12741891	0.991000	0.36638	0.998000	0.56505	0.605000	0.37080	2.100000	0.41777	2.428000	0.82296	0.655000	0.94253	AGC		0.562	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		51	966	0	0	0	1	0	51	966					A	12819304	G	A	12819304	3	1	79	1	0	0	0	0	1	0	0	0	2014	971	34	2	297	2	C1orf158	1	12819304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38412	12819304	236431317	163	10480											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggggcatatggtctggaGcttctgcactctccccagag	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	119					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTCTGGAGCTTCTGCACT	0.537																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(355-357)Gct>Tct		PRAME family member 12							134	152	146					1																	12835753		2166	4291	6457	SO:0001583	missense	390999							g.chr1:12835753G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.355G>T	1.37:g.12835753G>T	ENSP00000350358:p.Ala119Ser						p.A119S	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	382	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	119						Missense_Mutation	SNP	ENST00000357726.4	37	c.355G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	8.614	0.889750	0.17540	.	.	ENSG00000116726	ENST00000357726	T	0.17213	2.29	2.8	-2.5	0.06384	.	3.019180	0.01114	N	0.005651	T	0.22704	0.0548	L	0.42581	1.335	0.09310	N	1	D	0.54207	0.965	P	0.54664	0.758	T	0.38887	-0.9640	10	0.10111	T	0.7	.	7.5906	0.28019	0.6577:0.0:0.3423:0.0	.	119	O95522	PRA12_HUMAN	S	119	ENSP00000350358:A119S	ENSP00000350358:A119S	A	+	1	0	PRAMEF12	12758340	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	-0.190000	0.09615	-0.686000	0.05170	-0.657000	0.03884	GCT		0.537	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		184	734	1	0	4.58104e-65	1	5.79144e-65	184	734					T	12835753	G	T	12835753	3	4	79	1	0	0	0	0	1	0	0	0	12475	971	34	3	361	3	PRAMEF12	1	12835753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16449	12835753	236414868	164	10481											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836043	12836043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgtgctgcccgtgggaGctgtccattcttataaggtt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	215					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGTGGGAGCTGTCCATTC	0.517																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(643-645)gaG>gaA		PRAME family member 12							156	163	161					1																	12836043		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12836043G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.645G>A	1.37:g.12836043G>A							p.E215E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	672	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	215						Silent	SNP	ENST00000357726.4	37	c.645G>A	CCDS41254.1																																																																																				0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		59	553	0	0	0	1	0	59	553					A	12836043	G	A	12836043	2	1	79	1	0	0	0	0	0	0	0	1	12475	962	34	2		2	PRAMEF12	1	12836043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	12836043	236414578	165	10482											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837595	12837595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcaacttggggctgaGctgatgaagacactgaggga	13	7	1	5	rs374628181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	435					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGCTGAGCTGATGAAGA	0.562																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1303-1305)gaG>gaA		PRAME family member 12							122	125	124					1																	12837595		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837595G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1305G>A	1.37:g.12837595G>A							p.E435E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1332	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	435						Silent	SNP	ENST00000357726.4	37	c.1305G>A	CCDS41254.1																																																																																				0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		60	604	0	0	0	1	0	60	604					A	12837595	G	A	12837595	2	1	79	1	0	0	0	0	0	0	0	1	12475	962	34	2		2	PRAMEF12	1	12837595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1552	12837595	236413026	166	10483											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837727	12837727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaatgcctgctgtcaGggtggatttatttaaagctt	11	6	1	1	rs376965379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	ENST00000357726.4	+	3	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTGTCAGGGTGGATTTA	0.502																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1435-1437)caG>caT		PRAME family member 12							67	70	69					1																	12837727		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837727G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1437G>T	1.37:g.12837727G>T	ENSP00000350358:p.Gln479His						p.Q479H	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1464	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	479						Missense_Mutation	SNP	ENST00000357726.4	37	c.1437G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	7.381	0.628857	0.14257	.	.	ENSG00000116726	ENST00000357726	T	0.01369	4.97	2.45	1.49	0.22878	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.42245	0.381	T	0.54364	-0.8305	9	0.87932	D	0	.	6.5031	0.22180	0.0:0.0:0.7144:0.2856	.	479	O95522	PRA12_HUMAN	H	479	ENSP00000350358:Q479H	ENSP00000350358:Q479H	Q	+	3	2	PRAMEF12	12760314	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.035000	0.13797	0.553000	0.29044	0.205000	0.17691	CAG		0.502	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		19	381	1	0	5.3912e-06	1	5.54037e-06	19	381					T	12837727	G	T	12837727	3	4	79	1	0	0	0	0	1	0	0	0	12475	991	35	3	1447	3	PRAMEF12	1	12837727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	12837727	236412894	167	10484											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatttgcgggatgttgacGagaatttctgggccagatgg	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.E110*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532																																						ENST00000332296.7																			2	Substitution - Nonsense(2)	p.E110*(2)	lung(2)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(328-330)Gag>Aag		PRAME family member 1							172	188	182					1																	12854104		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12854104G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.328G>A	1.37:g.12854104G>A	ENSP00000332134:p.Glu110Lys						p.E110K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	431	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	110					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.328G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043691	0.36085	.	.	ENSG00000116721	ENST00000332296	T	0.17370	2.28	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	T	0.34978	0.0916	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.20874	-1.0262	10	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	110	O95521	PRAM1_HUMAN	K	110	ENSP00000332134:E110K	ENSP00000332134:E110K	E	+	1	0	PRAMEF1	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG		0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		131	1932	0	0	0	1	0	131	1932					A	12854104	G	A	12854104	3	1	79	1	0	0	0	0	1	0	0	0	12472	1059	37	1	334	1	PRAMEF1	1	12854104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16377	12854104	236396517	168	10485											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854270	12854270	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accccaggatgaatgcctgaGatacctcttccagtgggttt	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	ENST00000332296.7	+	3	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	165					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGCCTGAGATACCTCTTC	0.468																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(493-495)aGa>aTa		PRAME family member 1							106	109	108					1																	12854270		2197	4281	6478	SO:0001583	missense	65121							g.chr1:12854270G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.494G>T	1.37:g.12854270G>T	ENSP00000332134:p.Arg165Ile						p.R165I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	597	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	165					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.494G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.183	0.032520	0.08101	.	.	ENSG00000116721	ENST00000332296	T	0.04454	3.62	1.74	-3.49	0.04724	.	0.681446	0.14085	N	0.342416	T	0.01835	0.0058	N	0.03324	-0.35	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.39292	-0.9621	10	0.51188	T	0.08	.	4.8258	0.13416	0.0:0.5477:0.1809:0.2714	.	165	O95521	PRAM1_HUMAN	I	165	ENSP00000332134:R165I	ENSP00000332134:R165I	R	+	2	0	PRAMEF1	12776857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.077000	0.03416	-1.126000	0.02929	-2.386000	0.00229	AGA		0.468	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		141	1384	1	0	1.73933e-33	1	2.06204e-33	141	1384					T	12854270	G	T	12854270	3	4	79	1	0	0	0	0	1	0	0	0	12472	942	33	3	500	3	PRAMEF1	1	12854270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	12854270	236396351	169	10486											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884806	12884806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataggcaggcattcaacaGcagtattgatctgcctccag	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884806G>A	ENST00000535591.1	-	4	1500	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	435					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTCAACAGCAGTATTGAT	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1303-1305)tgC>tgT		PRAME family member 11							36	28	31					1																	12884806		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884806G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1305C>T	1.37:g.12884806G>A							p.C435C	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1500	-			435						Silent	SNP	ENST00000535591.1	37	c.1305C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		70	577	0	0	0	1	0	70	577					A	12884806	G	A	12884806	2	1	79	1	0	0	0	0	0	0	0	1	12474	963	34	2		2	PRAMEF11	1	12884806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30536	12884806	236365815	170	10487											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884845	12884845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcataaaatgacctgtcGccatggtcagggcagttgtc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1264-1266)ggC>ggT		PRAME family member 11							57	45	49					1																	12884845		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884845G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A							p.G422G	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1461	-			422						Silent	SNP	ENST00000535591.1	37	c.1266C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		166	702	0	0	0	1	0	166	702					A	12884845	G	A	12884845	2	1	79	1	0	0	0	0	0	0	0	1	12474	1074	38	1		1	PRAMEF11	1	12884845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	12884845	236365776	171	10488											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgaacgaaggcaaagccCttatgaacagagcagcccgc	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	50	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGGCAAAGCCCTTATGAACAG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(148-150)aaG>aaT		heterogeneous nuclear ribonucleoprotein C-like 1							92	92	92					1																	12907993		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907993C>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.150G>T	1.37:g.12907993C>A	ENSP00000365370:p.Lys50Asn						p.K50N	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	375	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.150G>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303196	0.40795	.	.	ENSG00000179172	ENST00000317869	T	0.52983	0.64	1.09	0.111	0.14619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.44973	0.1319	M	0.68317	2.08	0.49130	D	0.999759	P	0.41978	0.767	B	0.44224	0.444	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.017	0.24892	0.0:0.7118:0.2881:0.0	.	50	O60812	HNRCL_HUMAN	N	50	ENSP00000365370:K50N	ENSP00000365370:K50N	K	-	3	2	HNRNPCL1	12830580	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	0.593000	0.23999	0.051000	0.15978	-0.527000	0.04329	AAG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		72	660	1	0	6.86016e-32	1	8.08805e-32	72	660					A	12907993	C	A	12907993	3	1	79	1	0	0	0	0	1	0	0	0	7293	680	24	3	733	3	HNRNPCL1	1	12907993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23148	12907993	236342628	172	10489											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954533	12954533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcacggccactggacGctcacgtacaactcacgctc	10	15	2	0	rs75427689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12954533G>A	ENST00000235347.4	-	3	829	c.750C>T	c.(748-750)agC>agT	p.S250S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	250					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTGGACGCTCACGTACA	0.463													g|||	17	0.00339457	0.0129	0.0	5008	,	,		25293	0.0		0.0	False		,,,				2504	0.0					ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(748-750)agC>agT		PRAME family member 10		G		36,3948		0,36,1956	260	186	210		750	0	0	1	dbSNP_131	210	0,8252		0,0,4126	no	coding-synonymous	PRAMEF10	NM_001039361.3		0,36,6082	AA,AG,GG		0.0,0.9036,0.2942		250/475	12954533	36,12200	1992	4126	6118	SO:0001819	synonymous_variant	343071							g.chr1:12954533G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.750C>T	1.37:g.12954533G>A							p.S250S	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	829	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	250					Q2M1V2	Silent	SNP	ENST00000235347.4	37	c.750C>T	CCDS41255.1																																																																																				0.463	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		46	1467	0	0	0	1	0	46	1467					A	12954533	G	A	12954533	2	1	79	1	0	0	0	0	0	0	0	1	12473	1078	38	1		1	PRAMEF10	1	12954533	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46540	12954533	236296088	173	10490											
PDPN	10630	broad.mit.edu	37	chr1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggttatgcgaaaaatgtCgggaaggtactcgtaagtaa	13	4	0	0	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000509009.1	+	5	499	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L|PDPN_ENST00000294489.6_Missense_Mutation_p.S233L					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(697-699)tCg>tTg		podoplanin		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	189	178	182		344,344,698,698	5.8	1	1	dbSNP_134	182	0,8600		0,0,4300	no	missense,missense,missense,missense	PDPN	NM_001006624.1,NM_001006625.1,NM_006474.4,NM_198389.2	145,145,145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	115/121,115/119,233/239,233/237	13940894	1,13005	2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940894C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.455C>T	1.37:g.13940894C>T	ENSP00000422977:p.Ser152Leu					PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000509009.1_Missense_Mutation_p.S152L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L	p.S233L			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	5	1039	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	157						Missense_Mutation	SNP	ENST00000509009.1	37	c.698C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585070	0.86748	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000146	T	0.63581	0.2523	M	0.66939	2.045	0.43250	D	0.995171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64931	-0.6291	10	0.87932	D	0	-28.3123	15.5833	0.76462	0.0:1.0:0.0:0.0	.	157;115;233;233	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	L	233;233;224;152;115;115;115;115	ENSP00000294489:S233L;ENSP00000365225:S233L;ENSP00000426302:S224L;ENSP00000422977:S152L;ENSP00000365229:S115L;ENSP00000425304:S115L;ENSP00000427537:S115L;ENSP00000426063:S115L	ENSP00000294489:S233L	S	+	2	0	PDPN	13813481	0.997000	0.39634	0.987000	0.45799	0.922000	0.55478	4.468000	0.60162	2.765000	0.95021	0.655000	0.94253	TCG		0.418	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		86	370	0	0	0	1	0	86	370					T	13940894	C	T	13940894	3	4	79	1	0	0	0	0	1	0	0	0	11730	893	31	1	716	1	PDPN	1	13940894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	986361	13940894	235309727	174	10491											
PRDM2	7799	broad.mit.edu	37	chr1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcctggtctggtacaAtggggaagacaaccctgaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000343137.4_5'Flank	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	141	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCTGGTACAATGGGGAAGAC	0.667																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(421-423)aAt>aCt		PR domain containing 2, with ZNF domain							17	19	18					1																	14075893		2197	4291	6488	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075893A>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.422A>C	1.37:g.14075893A>C	ENSP00000235372:p.Asn141Thr					PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T	p.N141T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	6	1278	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	141			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.422A>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	a	14.81	2.646882	0.47258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.69	3.69	0.42338	SET domain (3);	0.117295	0.56097	D	0.000024	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.996916	B;B;B	0.28178	0.202;0.168;0.005	B;B;B	0.39771	0.309;0.205;0.021	T	0.75453	-0.3312	10	0.39692	T	0.17	.	10.6381	0.45577	1.0:0.0:0.0:0.0	.	141;141;141	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	132;141;141;141;141	ENSP00000423010:N132T;ENSP00000365216:N141T;ENSP00000235372:N141T;ENSP00000312352:N141T	ENSP00000235372:N141T	N	+	2	0	PRDM2	13948480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	1.661000	0.50771	0.524000	0.50904	AAT		0.667	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		18	90	0	0	0	1	0	18	90					C	14075893	A	C	14075893	3	2	79	1	0	0	0	0	1	0	0	0	12505	101	4	4	440	4	PRDM2	1	14075893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134999	14075893	235174728	175	10492											
PRDM2	7799	broad.mit.edu	37	chr1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaaagagccagaaataCggtgtgatgagaagccagaa	13	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCAGAAATACGGTGTGATGA	0.423																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(931-933)Cgg>Tgg		PR domain containing 2, with ZNF domain							93	93	93					1																	14105221		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105221C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.931C>T	1.37:g.14105221C>T	ENSP00000235372:p.Arg311Trp					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W	p.R311W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1787	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	311	EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 4; AAA87023).		Retinoblastoma protein binding.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.931C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927125	0.34002	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.79;4.68;4.68;4.68	5.67	4.73	0.59995	.	0.997794	0.08122	N	0.994503	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.999;0.978;1.0;1.0	P;B;D;D	0.64321	0.841;0.328;0.922;0.924	T	0.37753	-0.9692	10	0.72032	D	0.01	.	11.1206	0.48287	0.0:0.7614:0.2386:0.0	.	311;169;311;311	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	311;311;311;110;110	ENSP00000235372:R311W;ENSP00000312352:R311W;ENSP00000411103:R110W;ENSP00000341621:R110W	ENSP00000235372:R311W	R	+	1	2	PRDM2	13977808	0.000000	0.05858	0.822000	0.32727	0.952000	0.60782	0.436000	0.21526	2.666000	0.90696	0.561000	0.74099	CGG		0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		84	318	0	0	0	1	0	84	318					T	14105221	C	T	14105221	3	4	79	1	0	0	0	0	1	0	0	0	12505	527	19	1	957	1	PRDM2	1	14105221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29328	14105221	235145400	176	10493											
PRDM2	7799	broad.mit.edu	37	chr1	14105607	14105607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcatctggagaaaaCgttgcttcaaaagatgattc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000343137.4_Silent_p.N238N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGAGAAAACGTTGCTTCAA	0.502																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1315-1317)aaC>aaT		PR domain containing 2, with ZNF domain							44	44	44					1																	14105607		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105607C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1317C>T	1.37:g.14105607C>T						PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.N439N	p.N439N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2173	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	439					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.1317C>T	CCDS150.1																																																																																				0.502	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		70	219	0	0	0	1	0	70	219					T	14105607	C	T	14105607	2	4	79	1	0	0	0	0	0	0	0	1	12505	535	19	1		1	PRDM2	1	14105607	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	14105607	235145014	177	10494											
PRDM2	7799	broad.mit.edu	37	chr1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagaatggcccttcaAatgtgaattttgtgtgcagc	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGGCCCTTCAAATGTGAATTT	0.353																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3487-3489)aAa>aGa		PR domain containing 2, with ZNF domain							109	112	111					1																	14107778		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107778A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3488A>G	1.37:g.14107778A>G	ENSP00000235372:p.Lys1163Arg					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R	p.K1163R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4344	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1163					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3488A>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932550	0.73442	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.60067	1.865	0.58432	D	0.999991	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.85130	0.912;0.994;0.997	T	0.51426	-0.8707	10	0.54805	T	0.06	.	15.2744	0.73732	1.0:0.0:0.0:0.0	.	1021;1163;1163	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	R	1163;1163;1163;962;962	ENSP00000235372:K1163R;ENSP00000312352:K1163R;ENSP00000411103:K962R;ENSP00000341621:K962R	ENSP00000235372:K1163R	K	+	2	0	PRDM2	13980365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.288000	0.76882	0.533000	0.62120	AAA		0.353	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		21	571	0	0	0	1	0	21	571					G	14107778	A	G	14107778	3	3	79	1	0	0	0	0	1	0	0	0	12505	14	1	4	3514	4	PRDM2	1	14107778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2171	14107778	235142843	178	10495											
PRDM2	7799	broad.mit.edu	37	chr1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcattctgctcagcttTccagcaaaacatcacggagc	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCTCAGCTTTCCAGCAAAAC	0.453																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4810-4812)Tcc>Gcc		PR domain containing 2, with ZNF domain							74	75	74					1																	14109100		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14109100T>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4810T>G	1.37:g.14109100T>G	ENSP00000235372:p.Ser1604Ala					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A	p.S1604A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5666	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1604					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4810T>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778059	0.02929	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01505	4.94;4.82;4.83;4.83	6.07	2.34	0.29019	.	0.425927	0.25929	N	0.027383	T	0.01124	0.0037	N	0.17674	0.51	0.09310	N	1	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.001	T	0.48490	-0.9031	10	0.05620	T	0.96	.	8.4467	0.32847	0.1201:0.0:0.4366:0.4433	.	1462;1604;1604	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1604;1604;1604;1403;1403	ENSP00000235372:S1604A;ENSP00000312352:S1604A;ENSP00000411103:S1403A;ENSP00000341621:S1403A	ENSP00000235372:S1604A	S	+	1	0	PRDM2	13981687	0.000000	0.05858	0.741000	0.31004	0.125000	0.20455	0.034000	0.13776	0.540000	0.28808	0.533000	0.62120	TCC		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		36	293	0	0	0	1	0	36	293					G	14109100	T	G	14109100	3	3	79	1	0	0	0	0	1	0	0	0	12505	1783	62	4	4836	4	PRDM2	1	14109100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1322	14109100	235141521	179	10496											
KAZ	23254	broad.mit.edu	37	chr1	15420728	15420728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcagcctgtcggaaggCgaggagcagatggaccggct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15420728C>T	ENST00000376030.2	+	9	1569	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	425					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGTCGGAAGGCGAGGAGCAGA	0.677																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(1273-1275)ggC>ggT		kazrin, periplakin interacting protein							37	44	41					1																	15420728		2148	4251	6399	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15420728C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1275C>T	1.37:g.15420728C>T							p.G425G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			9	1569	+			425					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.1275C>T	CCDS152.2																																																																																				0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		44	176	0	0	0	1	0	44	176					T	15420728	C	T	15420728	2	4	79	1	0	0	0	0	0	0	0	1	8018	755	27	1		1	KAZ	1	15420728	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1311628	15420728	233829893	180	10497											
TMEM51	55092	broad.mit.edu	37	chr1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatggccatgtggaacCtggtacccggcttcagcgcg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	33						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622																																						ENST00000428417.1																			0				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14						c.(97-99)Ctg>Atg		transmembrane protein 51							125	129	127					1																	15541680		2203	4300	6503	SO:0001583	missense	55092					integral to membrane		g.chr1:15541680C>A	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.97C>A	1.37:g.15541680C>A	ENSP00000394899:p.Leu33Met					TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M	p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	2	543	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	33					A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	c.97C>A	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584107	0.65992	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.43	5.43	0.79202	.	0.140331	0.51477	D	0.000095	T	0.54581	0.1867	M	0.64997	1.995	0.44677	D	0.997666	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.55970	-0.8056	10	0.66056	D	0.02	-1.3169	11.666	0.51374	0.0:0.9193:0.0:0.0807	.	33;33	Q9BSA0;Q9NW97	.;TMM51_HUMAN	M	33	ENSP00000394899:L33M;ENSP00000365182:L33M;ENSP00000412298:L33M;ENSP00000409665:L33M;ENSP00000383600:L33M;ENSP00000365176:L33M	ENSP00000303666:L33M	L	+	1	2	TMEM51	15414267	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.203000	0.32284	2.564000	0.86499	0.655000	0.94253	CTG		0.622	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		77	778	1	0	1.7488e-33	1	2.07287e-33	77	778					A	15541680	C	A	15541680	3	1	79	1	0	0	0	0	1	0	0	0	16229	680	24	3	99	3	TMEM51	1	15541680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120952	15541680	233708941	181	10498											
EFHD2	79180	broad.mit.edu	37	chr1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagagcttctttgaggCcaaggtgaggagcccaaggg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	196						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(586-588)gCc>gTc		EF-hand domain family, member D2							27	27	27					1																	15753776		2203	4299	6502	SO:0001583	missense	79180					membrane raft		g.chr1:15753776C>T	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"EF-hand domain containing"	28670	protein-coding gene	gene with protein product	"swiprosin-1"		"EF hand domain containing 2"			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.587C>T	1.37:g.15753776C>T	ENSP00000365147:p.Ala196Val						p.A196V	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	664	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	196					Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	37	c.587C>T	CCDS155.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120565	0.77323	.	.	ENSG00000142634	ENST00000375980;ENST00000375975	T	0.47528	0.84	4.07	4.07	0.47477	.	0.059184	0.64402	D	0.000003	T	0.72244	0.3436	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79269	-0.1873	10	0.87932	D	0	-25.3155	15.7247	0.77747	0.0:1.0:0.0:0.0	.	196	Q96C19	EFHD2_HUMAN	V	196;97	ENSP00000365147:A196V	ENSP00000365142:A97V	A	+	2	0	EFHD2	15626363	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	7.780000	0.85658	2.209000	0.71365	0.561000	0.74099	GCC		0.642	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		4	48	0	0	0	1	0	4	48					T	15753776	C	T	15753776	3	4	79	1	0	0	0	0	1	0	0	0	4965	739	26	2	597	2	EFHD2	1	15753776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212096	15753776	233496845	182	10499											
EFHD2	79180	broad.mit.edu	37	chr1	15755181	15755181	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggaggagatgaagcagcgGaaagcggccttcaaggagct	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	228						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(682-684)cgG>cgA		EF-hand domain family, member D2							81	74	77					1																	15755181		2201	4299	6500	SO:0001819	synonymous_variant	79180					membrane raft		g.chr1:15755181G>A	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"EF-hand domain containing"	28670	protein-coding gene	gene with protein product	"swiprosin-1"		"EF hand domain containing 2"			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.684G>A	1.37:g.15755181G>A							p.R228R	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	761	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	228					Q5JYW9	Silent	SNP	ENST00000375980.4	37	c.684G>A	CCDS155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745074|2.745074	0.49151|0.49151	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375975|ENST00000445566	.|.	.|.	.|.	4.37|4.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54029|0.54029	0.1833|0.1833	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44421|0.44421	-0.9329|-0.9329	5|4	0.87932|.	D|.	0|.	-9.0778|-9.0778	6.9481|6.9481	0.24530|0.24530	0.1814:0.4067:0.4119:0.0|0.1814:0.4067:0.4119:0.0	.|.	.|.	.|.	.|.	K|E	167|168	.|.	ENSP00000365142:E167K|.	E|G	+|+	1|2	0|0	EFHD2|EFHD2	15627768|15627768	0.103000|0.103000	0.21917|0.21917	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	-0.305000|-0.305000	0.08188|0.08188	0.357000|0.357000	0.24183|0.24183	0.462000|0.462000	0.41574|0.41574	GAA|GGA		0.652	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		6	48	0	0	0	1	0	6	48					A	15755181	G	A	15755181	2	1	79	1	0	0	0	0	0	0	0	1	4965	1161	41	2		2	EFHD2	1	15755181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1405	15755181	233495440	183	10500											
CASP9	842	broad.mit.edu	37	chr1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccagctccagcaaagccaGcaccattttctacaagagag	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000333868.5	-	5	734	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000546424.1_Missense_Mutation_p.L214M|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	214					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCAAAGCCAGCACCATTTTC	0.577																																						ENST00000546424.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(640-642)Ctg>Atg		caspase 9, apoptosis-related cysteine peptidase							63	62	62					1																	15832565		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15832565G>T	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.640C>A	1.37:g.15832565G>T	ENSP00000330237:p.Leu214Met					CASP9_ENST00000333868.5_Missense_Mutation_p.L214M|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000348549.5_Intron	p.L214M			P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	5	884	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	214					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.640C>A	CCDS158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.244376|2.244376	0.39697|0.39697	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	5.1|5.1	1.91|1.91	0.25777|0.25777	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|2.094920	.|0.01550	.|N	.|0.019639	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44478	.|0.774;0.836	.|P;P	.|0.52217	.|0.637;0.693	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.48119	.|T	.|0.1	.|.	6.7094|6.7094	0.23268|0.23268	0.0:0.1671:0.4634:0.3695|0.0:0.1671:0.4634:0.3695	.|.	.|214;214	.|P55211;F8VVS7	.|CASP9_HUMAN;.	D|M	55|214;214;58;131;131	.|ENSP00000449584:L214M;ENSP00000330237:L214M;ENSP00000365051:L131M;ENSP00000396540:L131M	.|ENSP00000330237:L214M	A|L	-|-	2|1	0|2	CASP9|CASP9	15705152|15705152	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	-0.298000|-0.298000	0.08265|0.08265	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.577	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		10	349	1	0	1.08611e-07	1	1.12939e-07	10	349					T	15832565	G	T	15832565	3	4	79	1	0	0	0	0	1	0	0	0	2686	962	34	3	630	3	CASP9	1	15832565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77384	15832565	233418056	184	10501											
DNAJC16	23341	broad.mit.edu	37	chr1	15893740	15893740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctactacagaaatttgCtttggaggtctacacattta	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15893740C>A	ENST00000375847.3	+	14	2089	c.1925C>A	c.(1924-1926)gCt>gAt	p.A642D	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	642					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGAAATTTGCTTTGGAGGTC	0.463																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(1924-1926)gCt>gAt		DnaJ (Hsp40) homolog, subfamily C, member 16							131	123	126					1																	15893740		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15893740C>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1925C>A	1.37:g.15893740C>A	ENSP00000365007:p.Ala642Asp					DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2089	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	642					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1925C>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853325	0.91355	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	T;T	0.73258	-0.71;-0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.70275	2.135	0.43214	D	0.995088	D	0.89917	1.0	D	0.85130	0.997	D	0.84076	0.0382	10	0.54805	T	0.06	-15.9176	18.3197	0.90234	0.0:1.0:0.0:0.0	.	642	Q9Y2G8	DJC16_HUMAN	D	642	ENSP00000365007:A642D;ENSP00000365009:A642D	ENSP00000365007:A642D	A	+	2	0	DNAJC16	15766327	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.996000	0.76263	2.671000	0.90904	0.650000	0.86243	GCT		0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		12	370	1	0	7.03913e-09	1	7.37812e-09	12	370					A	15893740	C	A	15893740	3	1	79	1	0	0	0	0	1	0	0	0	4651	797	28	3	1975	3	DNAJC16	1	15893740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61175	15893740	233356881	185	10502											
RSC1A1	6248	broad.mit.edu	37	chr1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttacaagatctttctgatCatgcttcctcagcagaccat	5	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	80					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(238-240)Cat>Tat		regulatory solute carrier protein, family 1, member 1							107	109	108					1																	15986601		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986601C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.238C>T	1.37:g.15986601C>T	ENSP00000341963:p.His80Tyr					DDI2_ENST00000480945.1_3'UTR	p.H80Y	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	238	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	80					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.238C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.386950	0.00202	.	.	ENSG00000215695	ENST00000345034	T	0.42513	0.97	5.61	-4.42	0.03579	.	0.853756	0.09821	N	0.751463	T	0.11922	0.0290	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30060	-0.9991	10	0.02654	T	1	4.7004	2.8138	0.05450	0.1828:0.4457:0.0908:0.2807	.	80	Q92681	RSCA1_HUMAN	Y	80	ENSP00000341963:H80Y	ENSP00000341963:H80Y	H	+	1	0	RSC1A1	15859188	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.782000	0.04643	-0.654000	0.05394	0.561000	0.74099	CAT		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		38	668	0	0	0	1	0	38	668					T	15986601	C	T	15986601	3	4	79	1	0	0	0	0	1	0	0	0	13748	826	29	2	240	2	RSC1A1	1	15986601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92861	15986601	233264020	186	10503											
SLC25A34	284723	broad.mit.edu	37	chr1	16064705	16064705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcccagctggccaccTtcgcctctgccaaggcctgg	11	18	1	0	rs554117714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16064705T>G	ENST00000294454.5	+	3	643	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|RP11-169K16.4_ENST00000418525.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	188					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCACCTTCGCCTCTGC	0.667																																						ENST00000294454.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9						c.(562-564)Ttc>Gtc		solute carrier family 25, member 34							33	40	37					1																	16064705		2203	4300	6503	SO:0001583	missense	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16064705T>G	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"Solute carriers"	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.562T>G	1.37:g.16064705T>G	ENSP00000294454:p.Phe188Val					SLC25A34_ENST00000489568.1_3'UTR	p.F188V	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	643	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	188					Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	37	c.562T>G	CCDS162.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393231	0.62066	.	.	ENSG00000162461	ENST00000294454	T	0.79454	-1.27	5.28	5.28	0.74379	Mitochondrial carrier domain (2);	0.119373	0.56097	D	0.000023	D	0.90484	0.7019	M	0.92219	3.285	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.92838	0.6286	10	0.87932	D	0	.	15.208	0.73195	0.0:0.0:0.0:1.0	.	188	Q6PIV7	S2534_HUMAN	V	188	ENSP00000294454:F188V	ENSP00000294454:F188V	F	+	1	0	SLC25A34	15937292	1.000000	0.71417	0.993000	0.49108	0.044000	0.14063	7.349000	0.79376	1.980000	0.57719	0.460000	0.39030	TTC		0.667	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348		7	251	0	0	0	1	0	7	251					G	16064705	T	G	16064705	3	3	79	1	0	0	0	0	1	0	0	0	14548	1609	56	4	572	4	SLC25A34	1	16064705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78104	16064705	233185916	187	10504											
FBLIM1	54751	broad.mit.edu	37	chr1	16101142	16101142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtgcggcaagtgtggCgaggtggtccgggaccacat	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16101142C>T	ENST00000375766.3	+	7	1381	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCAAGTGTGGCGAGGTGGTCC	0.637																																						ENST00000375766.3																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(739-741)ggC>ggT		filamin binding LIM protein 1							70	61	64					1																	16101142		2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101142C>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.741C>T	1.37:g.16101142C>T						FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G	p.G247G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	7	1381	+		Colorectal(325;0.000257)|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)	247			LIM zinc-binding 2.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.741C>T	CCDS163.1																																																																																				0.637	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		51	417	0	0	0	1	0	51	417					T	16101142	C	T	16101142	2	4	79	1	0	0	0	0	0	0	0	1	5722	755	27	1		1	FBLIM1	1	16101142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36437	16101142	233149479	188	10505											
SPEN	23013	broad.mit.edu	37	chr1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacgactataaccaagatCgtacatattatgagagtgtt	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				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)			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)		TAACCAAGATCGTACATATTA	0.408																																						ENST00000375759.3																			0				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						c.(1888-1890)Cgt>Tgt		spen family transcriptional repressor							79	80	80					1																	16254623		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.chr1:16254623C>T		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.1888C>T	1.37:g.16254623C>T	ENSP00000364912:p.Arg630Cys						p.R630C	NM_015001.2	NP_055816.2	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	2092	+		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)	630			Arg-rich.|Tyr-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1888C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013004	0.54468	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.28566	0.0707	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	9	0.72032	D	0.01	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	C	630	ENSP00000364912:R630C	ENSP00000364912:R630C	R	+	1	0	SPEN	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT		0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		88	344	0	0	0	1	0	88	344					T	16254623	C	T	16254623	3	4	79	1	0	0	0	0	1	0	0	0	15090	884	31	1	1930	1	SPEN	1	16254623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153481	16254623	232995998	189	10506											
SPEN	23013	broad.mit.edu	37	chr1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagagacgcttaataCggaaggaaaaagtggaaaag	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	810	Arg-rich.				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)			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)		ACGCTTAATACGGAAGGAAAA	0.423																																						ENST00000375759.3																			0				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						c.(2428-2430)Cgg>Tgg		spen family transcriptional repressor							81	85	84					1																	16255163		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.chr1:16255163C>T		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.2428C>T	1.37:g.16255163C>T	ENSP00000364912:p.Arg810Trp						p.R810W	NM_015001.2	NP_055816.2	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	2632	+		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)	810			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2428C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428832	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.89	2.76	0.32466	.	.	.	.	.	T	0.11495	0.0280	L	0.56769	1.78	0.52099	D	0.999943	P	0.48694	0.914	B	0.35182	0.197	T	0.05920	-1.0856	9	0.87932	D	0	-8.5576	7.0484	0.25059	0.4093:0.4772:0.0:0.1135	.	810	Q96T58	MINT_HUMAN	W	810	ENSP00000364912:R810W	ENSP00000364912:R810W	R	+	1	2	SPEN	16127750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	0.481000	0.27557	0.563000	0.77884	CGG		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		45	393	0	0	0	1	0	45	393					T	16255163	C	T	16255163	3	4	79	1	0	0	0	0	1	0	0	0	15090	527	19	1	2470	1	SPEN	1	16255163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	16255163	232995458	190	10507											
SPEN	23013	broad.mit.edu	37	chr1	16258456	16258456	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgccggaatgtaaggagcgtCtatgcaaccatgggtgacca	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1907					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)			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)		TAAGGAGCGTCTATGCAACCA	0.512																																						ENST00000375759.3																			0				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						c.(5719-5721)gtC>gtA		spen family transcriptional repressor							75	78	77					1																	16258456		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258456C>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.5721C>A	1.37:g.16258456C>A							p.V1907V	NM_015001.2	NP_055816.2	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	5925	+		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)	1907					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.5721C>A	CCDS164.1																																																																																				0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		42	401	1	0	1.96642e-18	1	2.182e-18	42	401					A	16258456	C	A	16258456	2	1	79	1	0	0	0	0	0	0	0	1	15090	900	32	3		3	SPEN	1	16258456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	16258456	232992165	191	10508											
SPEN	23013	broad.mit.edu	37	chr1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacgtcctggcccatcGgtccctgcccctttctgaag	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			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)		CTGGCCCATCGGTCCCTGCCC	0.622																																						ENST00000375759.3																			0				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						c.(10606-10608)cGg>cAg		spen family transcriptional repressor							88	85	86					1																	16264404		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.chr1:16264404G>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.10607G>A	1.37:g.16264404G>A	ENSP00000364912:p.Arg3536Gln						p.R3536Q	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10811	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3536			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10607G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727230	0.89390	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.10423	0.0255	L	0.38175	1.15	0.58432	D	0.999999	P	0.48294	0.908	B	0.39217	0.294	T	0.26538	-1.0100	9	0.18276	T	0.48	-15.3801	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3536	Q96T58	MINT_HUMAN	Q	3536	ENSP00000364912:R3536Q	ENSP00000364912:R3536Q	R	+	2	0	SPEN	16136991	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.350000	0.97070	2.628000	0.89032	0.655000	0.94253	CGG		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		97	422	0	0	0	1	0	97	422					A	16264404	G	A	16264404	3	1	79	1	0	0	0	0	1	0	0	0	15090	1116	39	1	10657	1	SPEN	1	16264404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5948	16264404	232986217	192	10509											
CLCNKA	1187	broad.mit.edu	37	chr1	16351370	16351370	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaggcttctcccagagcatCacgccctcctctggaggtga	10	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000331433.4	+	4	361	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000375692.1_Silent_p.I114I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	114					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(340-342)atC>atA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						125	95	105					1																	16351370		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16351370C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.342C>A	1.37:g.16351370C>A						CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000331433.4_Silent_p.I114I|CLCNKA_ENST00000439316.2_Intron	p.I114I			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	470	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	114					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.342C>A	CCDS167.1																																																																																				0.602	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			19	281	1	0	1.2644e-06	1	1.30616e-06	19	281					A	16351370	C	A	16351370	2	1	79	1	0	0	0	0	0	0	0	1	3478	816	29	3		3	CLCNKA	1	16351370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86966	16351370	232899251	193	10510											
CLCNKA	1187	broad.mit.edu	37	chr1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgaggtcatgtcttcccActtctctgtccgggattact	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000331433.4	+	8	708	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000375692.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	230					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(688-690)cAc>cCc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95	97	97					1																	16353838		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353838A>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.689A>C	1.37:g.16353838A>C	ENSP00000332771:p.His230Pro					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000331433.4_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P	p.H230P			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	817	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	230					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.689A>C	CCDS167.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578506	0.65878	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.02	3.02	0.34903	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.80183	2.485	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95756	0.8796	10	0.72032	D	0.01	.	10.7799	0.46371	1.0:0.0:0.0:0.0	.	187;230;230	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	230;230;187;230	ENSP00000364844:H230P;ENSP00000410353:H230P;ENSP00000414445:H187P;ENSP00000332771:H230P	ENSP00000332771:H230P	H	+	2	0	CLCNKA	16226425	0.807000	0.29009	1.000000	0.80357	0.974000	0.67602	1.689000	0.37700	1.368000	0.46115	0.260000	0.18958	CAC		0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			73	787	0	0	0	1	0	73	787					C	16353838	A	C	16353838	3	2	79	1	0	0	0	0	1	0	0	0	3478	159	6	4	715	4	CLCNKA	1	16353838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2468	16353838	232896783	194	10511											
EPHA2	1969	broad.mit.edu	37	chr1	16456084	16456084	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggagccggatagacacGctgcaacaggaagcactgca	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e16-1		EPH receptor A2	Dasatinib(DB01254)						30	30	30					1																	16456084		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456084G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2670-1C>T	1.37:g.16456084G>A							p.R890_splice	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2824	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	890			Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.2669_splice	CCDS169.1																																																																																				0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Silent	14	115	0	0	0	1	0	14	115					A	16456084	G	A	16456084	5	1	79	1	0	0	0	0	0	0	1	0	5185	1101	38	1	268	1	EPHA2	1	16456084	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102246	16456084	232794537	195	10512											
EPHA2	1969	broad.mit.edu	37	chr1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctctgacgaacctgcGgtggataaagaagccaactc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	560					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACGAACCTGCGGTGGATAAAG	0.607																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1678-1680)Cgc>Tgc		EPH receptor A2	Dasatinib(DB01254)						64	56	59					1																	16460967		2202	4300	6502	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16460967G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1678C>T	1.37:g.16460967G>A	ENSP00000351209:p.Arg560Cys						p.R560C	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	8	1832	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	560					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1678C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249744	0.59212	.	.	ENSG00000142627	ENST00000358432	T	0.13538	2.58	5.52	5.52	0.82312	.	0.167176	0.30118	N	0.010366	T	0.24470	0.0593	M	0.88241	2.94	0.54753	D	0.999983	D	0.56287	0.975	B	0.39876	0.312	T	0.31110	-0.9955	10	0.87932	D	0	.	15.0049	0.71504	0.0:0.0:1.0:0.0	.	560	P29317	EPHA2_HUMAN	C	560	ENSP00000351209:R560C	ENSP00000351209:R560C	R	-	1	0	EPHA2	16333554	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	1.174000	0.31932	2.604000	0.88044	0.650000	0.86243	CGC		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		32	134	0	0	0	1	0	32	134					A	16460967	G	A	16460967	3	1	79	1	0	0	0	0	1	0	0	0	5185	1116	39	1	1292	1	EPHA2	1	16460967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4883	16460967	232789654	196	10513											
EPHA2	1969	broad.mit.edu	37	chr1	16461042	16461042	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgccaatcaccgccaAgttgccagatccctccgggg	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	535					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATCACCGCCAAGTTGCCAGAT	0.592																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1603-1605)Ttg>Ctg		EPH receptor A2	Dasatinib(DB01254)						62	55	57					1																	16461042		2202	4300	6502	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461042A>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1603T>C	1.37:g.16461042A>G							p.L535L	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	8	1757	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	535					B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.1603T>C	CCDS169.1																																																																																				0.592	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		34	128	0	0	0	1	0	34	128					G	16461042	A	G	16461042	2	3	79	1	0	0	0	0	0	0	0	1	5185	69	3	4		4	EPHA2	1	16461042	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	16461042	232789579	197	10514											
EPHA2	1969	broad.mit.edu	37	chr1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtccgtgaggaggctccGagtagcgcacactggcctca	13	13	2	1	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGAGGCTCCGAGTAGCGCAC	0.647																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1156-1158)tCg>tTg		EPH receptor A2	Dasatinib(DB01254)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	56	49	51		1157	5	1	1	dbSNP_134	51	0,8600		0,0,4300	no	missense	EPHA2	NM_004431.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	386/977	16464503	1,13005	2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464503G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1157C>T	1.37:g.16464503G>A	ENSP00000351209:p.Ser386Leu						p.S386L	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1311	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	386			Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1157C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194330	0.09599	2.27E-4	0.0	ENSG00000142627	ENST00000358432	T	0.58940	0.3	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143571	0.32473	N	0.006045	T	0.46171	0.1379	L	0.37697	1.125	0.47441	D	0.999424	P;P	0.50819	0.939;0.699	B;B	0.39840	0.311;0.055	T	0.40136	-0.9579	10	0.20046	T	0.44	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	386;386	B5A968;P29317	.;EPHA2_HUMAN	L	386	ENSP00000351209:S386L	ENSP00000351209:S386L	S	-	2	0	EPHA2	16337090	0.985000	0.35326	0.959000	0.39883	0.015000	0.08874	2.177000	0.42509	2.488000	0.83962	0.561000	0.74099	TCG		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		28	129	0	0	0	1	0	28	129					A	16464503	G	A	16464503	3	1	79	1	0	0	0	0	1	0	0	0	5185	1059	37	1	1825	1	EPHA2	1	16464503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3461	16464503	232786118	198	10515											
EPHA2	1969	broad.mit.edu	37	chr1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattccccagactcgggccaGcactgttcgcaggtgacgct	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	369	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACTCGGGCCAGCACTGTTCGC	0.677																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1105-1107)tgC>tgA		EPH receptor A2	Dasatinib(DB01254)						48	42	44					1																	16464553		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464553G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1107C>A	1.37:g.16464553G>T	ENSP00000351209:p.Cys369*						p.C369*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1261	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	369			Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1107C>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686181	0.96784	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.06	0.47325	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7751	0.51981	0.0878:0.0:0.9122:0.0	.	.	.	.	X	369	.	ENSP00000351209:C369X	C	-	3	2	EPHA2	16337140	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.165000	0.50778	1.239000	0.43787	0.561000	0.74099	TGC		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		33	137	1	0	4.02929e-09	1	4.23443e-09	33	137					T	16464553	G	T	16464553	4	4	79	1	0	0	0	0	0	1	0	0	5185	963	34	3	1875	3	EPHA2	1	16464553	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	16464553	232786068	199	10516											
EPHA2	1969	broad.mit.edu	37	chr1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcctcggtacacccaGttggtgcggagccagttgtc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	84	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGTACACCCAGTTGGTGCGGA	0.542																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(250-252)aaC>aaA		EPH receptor A2	Dasatinib(DB01254)						114	96	102					1																	16475444		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475444G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.252C>A	1.37:g.16475444G>T	ENSP00000351209:p.Asn84Lys					EPHA2_ENST00000461614.1_5'UTR	p.N84K	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	406	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	84					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.252C>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787196	0.70337	.	.	ENSG00000142627	ENST00000358432	T	0.03524	3.9	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000008	T	0.10723	0.0262	L	0.51422	1.61	0.50632	D	0.999885	D;D	0.76494	0.999;0.984	D;P	0.69479	0.964;0.698	T	0.14783	-1.0460	10	0.26408	T	0.33	.	10.0664	0.42306	0.0918:0.0:0.9082:0.0	.	84;84	B5A968;P29317	.;EPHA2_HUMAN	K	84	ENSP00000351209:N84K	ENSP00000351209:N84K	N	-	3	2	EPHA2	16348031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.382000	0.52463	2.503000	0.84419	0.561000	0.74099	AAC		0.542	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		37	325	1	0	2.09667e-21	1	2.36065e-21	37	325					T	16475444	G	T	16475444	3	4	79	1	0	0	0	0	1	0	0	0	5185	1020	36	3	2738	3	EPHA2	1	16475444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10891	16475444	232775177	200	10517											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagactgccttgctggacaGcttcagcttggcagggggtg	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1843-1845)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 19							36	34	35					1																	16531318		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16531318G>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1843C>A	1.37:g.16531318G>T	ENSP00000270747:p.Leu615Met					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	p.L615M	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	12	1979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	615			PH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1843C>A	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022609|2.022609	0.35701|0.35701	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.71817|.	-0.6|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.112646|.	0.40144|.	N|.	0.001174|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.38643|.	T|.	0.18|.	.|.	9.705|9.705	0.40209|0.40209	0.0:0.0:0.7929:0.2071|0.0:0.0:0.7929:0.2071	.|.	615|.	Q8IW93|.	ARHGJ_HUMAN|.	M|R	615|303	ENSP00000270747:L615M|.	ENSP00000270747:L615M|.	L|S	-|-	1|3	2|2	ARHGEF19|ARHGEF19	16403905|16403905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.105000|2.105000	0.41825|0.41825	2.272000|2.272000	0.75746|0.75746	0.561000|0.561000	0.74099|0.74099	CTG|AGC		0.597	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		18	67	1	0	2.35188e-11	1	2.50879e-11	18	67					T	16531318	G	T	16531318	3	4	79	1	0	0	0	0	1	0	0	0	902	962	34	3	585	3	ARHGEF19	1	16531318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55874	16531318	232719303	201	10518											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcgcacacgctgaagCgcagcacatctgcctccagc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	448	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1342-1344)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 19							36	34	34					1																	16532534		2202	4298	6500	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532534C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1343G>A	1.37:g.16532534C>T	ENSP00000270747:p.Arg448His					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R448H	p.R448H	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1479	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	448			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1343G>A	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938587|1.938587	0.34189|0.34189	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.29397	.|1.57;1.57;2.32	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.14657|0.14657	0.0354|0.0354	N|N	0.11560|0.11560	0.145|0.145	0.41567|0.41567	D|D	0.988663|0.988663	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.12656|0.12656	-1.0539|-1.0539	5|10	.|0.15499	.|T	.|0.54	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|448	.|Q8IW93	.|ARHGJ_HUMAN	T|H	137|448;448;448;131	.|ENSP00000270747:R448H;ENSP00000396001:R448H;ENSP00000414370:R131H	.|ENSP00000270747:R448H	A|R	-|-	1|2	0|0	ARHGEF19|ARHGEF19	16405121|16405121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.166000|1.166000	0.31834|0.31834	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		12	37	0	0	0	1	0	12	37					T	16532534	C	T	16532534	3	4	79	1	0	0	0	0	1	0	0	0	902	768	27	1	1101	1	ARHGEF19	1	16532534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1216	16532534	232718087	202	10519											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgctcatctctacacttCgagcctccattccagatgct	5	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	240					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(718-720)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 19							48	51	50					1																	16534248		2203	4298	6501	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534248C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.719G>A	1.37:g.16534248C>T	ENSP00000270747:p.Arg240Gln					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R240Q	p.R240Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	855	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	240					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.719G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028362	0.54790	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.71222	-0.55;1.85	4.84	2.95	0.34219	.	2.190520	0.02212	N	0.063299	T	0.61751	0.2372	L	0.47716	1.5	0.09310	N	1	P	0.38745	0.645	B	0.30251	0.113	T	0.48258	-0.9051	10	0.27082	T	0.32	.	7.6442	0.28311	0.0:0.7994:0.0:0.2006	.	240	Q8IW93	ARHGJ_HUMAN	Q	240	ENSP00000270747:R240Q;ENSP00000396001:R240Q	ENSP00000270747:R240Q	R	-	2	0	ARHGEF19	16406835	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.576000	0.36504	0.448000	0.26722	0.561000	0.74099	CGA		0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		86	303	0	0	0	1	0	86	303					T	16534248	C	T	16534248	3	4	79	1	0	0	0	0	1	0	0	0	902	884	31	1	1741	1	ARHGEF19	1	16534248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1714	16534248	232716373	203	10520											
C1orf89	79363	broad.mit.edu	37	chr1	16558646	16558646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatgtgggcaacgtcgGccagcccagcccgcccgtcc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16558646G>A	ENST00000375599.3	-	5	1093	c.674C>T	c.(673-675)gCc>gTc	p.A225V	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	225	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGCAACGTCGGCCAGCCCAGC	0.692																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(673-675)gCc>gTc		REM2 and RAB-like small GTPase 1							40	43	42					1																	16558646		2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16558646G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.674C>T	1.37:g.16558646G>A	ENSP00000364749:p.Ala225Val						p.A225V	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			5	1093	-			225			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.674C>T	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	8.915	0.959659	0.18507	.	.	ENSG00000132881	ENST00000375599	T	0.55930	0.49	5.47	4.55	0.56014	.	0.266187	0.36374	N	0.002626	T	0.31420	0.0796	N	0.14661	0.345	0.33422	D	0.579943	B	0.10296	0.003	B	0.08055	0.003	T	0.33548	-0.9864	10	0.23302	T	0.38	-17.9134	8.8177	0.35007	0.1705:0.0:0.8295:0.0	.	225	Q9BU20	RSG1_HUMAN	V	225	ENSP00000364749:A225V	ENSP00000364749:A225V	A	-	2	0	RSG1	16431233	0.628000	0.27138	0.955000	0.39395	0.459000	0.32528	1.203000	0.32284	2.553000	0.86117	0.655000	0.94253	GCC		0.692	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		32	321	0	0	0	1	0	32	321					A	16558646	G	A	16558646	3	1	79	1	0	0	0	0	1	0	0	0	2073	1203	42	2	106	2	C1orf89	1	16558646	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24398	16558646	232691975	204	10521											
FBXO42	54455	broad.mit.edu	37	chr1	16579592	16579592	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaagcaatactcacaGcattgggaccgccacaccct	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	307										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AATACTCACAGCATTGGGACC	0.433																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.e8+1		F-box protein 42							63	56	58					1																	16579592		2203	4300	6503	SO:0001630	splice_region_variant	54455							g.chr1:16579592G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.921+1C>T	1.37:g.16579592G>A							p.A307_splice	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	8	1136	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	307					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Splice_Site	SNP	ENST00000375592.3	37	c.921_splice	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.66280	-0.2;-0.16;-0.16	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	B	0.27450	0.179	B	0.28638	0.092	T	0.53774	-0.8391	10	0.27785	T	0.31	-8.6863	19.1901	0.93663	0.0:0.0:1.0:0.0	.	307	Q6P3S6	FBX42_HUMAN	V	307;25;25	ENSP00000364742:A307V;ENSP00000415663:A25V;ENSP00000412416:A25V	ENSP00000364742:A307V	A	-	2	0	FBXO42	16452179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.176000	0.89686	2.776000	0.95493	0.655000	0.94253	GCT		0.433	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		Missense_Mutation	11	88	0	0	0	1	0	11	88					A	16579592	G	A	16579592	5	1	79	1	0	0	0	0	0	0	1	0	5776	985	34	2	1245	2	FBXO42	1	16579592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20946	16579592	232671029	205	10522											
FBXO42	54455	broad.mit.edu	37	chr1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcttgatccattgtccCttccagcacagtttcttcct	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	24										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCATTGTCCCTTCCAGCACA	0.498																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(70-72)Ggg>Agg		F-box protein 42							111	92	99					1																	16641844		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641844C>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.70G>A	1.37:g.16641844C>T	ENSP00000364742:p.Gly24Arg					FBXO42_ENST00000478089.1_5'UTR	p.G24R	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	286	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	24					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.70G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088870	0.76756	.	.	ENSG00000037637	ENST00000375592	T	0.05025	3.51	5.81	5.81	0.92471	.	0.197049	0.45867	D	0.000332	T	0.15609	0.0376	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.66056	D	0.02	-15.7317	19.0543	0.93056	0.0:1.0:0.0:0.0	.	24	Q6P3S6	FBX42_HUMAN	R	24	ENSP00000364742:G24R	ENSP00000364742:G24R	G	-	1	0	FBXO42	16514431	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.622000	0.74233	2.739000	0.93911	0.563000	0.77884	GGG		0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			19	206	0	0	0	1	0	19	206					T	16641844	C	T	16641844	3	4	79	1	0	0	0	0	1	0	0	0	5776	681	24	2	2119	2	FBXO42	1	16641844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62252	16641844	232608777	206	10523											
SPATA21	374955	broad.mit.edu	37	chr1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaagcccattaggaGcaggatattcttcaggctct	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	249							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(745-747)Ctc>Ttc		spermatogenesis associated 21							115	95	102					1																	16731528		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16731528G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.745C>T	1.37:g.16731528G>A	ENSP00000335612:p.Leu249Phe					SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F	p.L249F	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	8	1227	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	249					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.745C>T	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825291	0.32237	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.78924	-1.22;-1.22	4.53	0.416	0.16416	EF-hand-like domain (1);	0.307870	0.23506	N	0.047446	T	0.71643	0.3364	L	0.52573	1.65	0.19300	N	0.999976	D;D	0.54601	0.967;0.966	P;P	0.52758	0.584;0.708	T	0.60964	-0.7158	10	0.16420	T	0.52	-6.8806	3.7645	0.08617	0.3108:0.185:0.5042:0.0	.	226;249	F5GXP5;Q7Z572	.;SPT21_HUMAN	F	249;226	ENSP00000335612:L249F;ENSP00000440046:L226F	ENSP00000335612:L249F	L	-	1	0	SPATA21	16604115	0.512000	0.26186	0.849000	0.33467	0.290000	0.27261	0.186000	0.16978	0.226000	0.20979	0.313000	0.20887	CTC		0.572	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		32	213	0	0	0	1	0	32	213					A	16731528	G	A	16731528	3	1	79	1	0	0	0	0	1	0	0	0	15059	971	34	2	688	2	SPATA21	1	16731528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89684	16731528	232519093	207	10524											
SPATA21	374955	broad.mit.edu	37	chr1	16731589	16731589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaagatctcaaagtaGctgcggaaggctgtggggag	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	228							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(682-684)agC>agT		spermatogenesis associated 21							94	80	85					1																	16731589		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16731589G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.684C>T	1.37:g.16731589G>A						SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.S205S	p.S228S	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	8	1166	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	228					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.684C>T	CCDS172.1																																																																																				0.557	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		34	247	0	0	0	1	0	34	247					A	16731589	G	A	16731589	2	1	79	1	0	0	0	0	0	0	0	1	15059	962	34	2		2	SPATA21	1	16731589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	16731589	232519032	208	10525											
NECAP2	55707	broad.mit.edu	37	chr1	16770133	16770133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtccccttagggctgcGgagtggcagctggaccagcc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000337132.5	+	2	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000406746.1_Silent_p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	33					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGGCTGCGGAGTGGCAGC	0.572																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(97-99)gcG>gcA		NECAP endocytosis associated 2							35	36	35					1																	16770133		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16770133G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.99G>A	1.37:g.16770133G>A						NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron	p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	2	189	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	33					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.99G>A	CCDS173.1																																																																																				0.572	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		10	74	0	0	0	1	0	10	74					A	16770133	G	A	16770133	2	1	79	1	0	0	0	0	0	0	0	1	10350	1103	39	1		1	NECAP2	1	16770133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38544	16770133	232480488	209	10526											
NECAP2	55707	broad.mit.edu	37	chr1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccatcaagctcaacatcGcagtgagttctacccttgct	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000337132.5	+	5	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	163					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAACATCGCAGTGAGTTC	0.532																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(487-489)Gca>Aca		NECAP endocytosis associated 2							66	50	56					1																	16775694		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16775694G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.487G>A	1.37:g.16775694G>A	ENSP00000338746:p.Ala163Thr					NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	p.A163T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	577	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	163					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.487G>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216824	0.95104	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.44482	0.92;1.51;0.92;0.92;0.92;0.92	5.84	5.84	0.93424	.	0.047689	0.85682	D	0.000000	T	0.56232	0.1971	L	0.56769	1.78	0.51482	D	0.999926	D;D;D	0.63880	0.987;0.993;0.989	P;P;P	0.55871	0.748;0.786;0.773	T	0.53279	-0.8461	10	0.48119	T	0.1	-16.4034	17.6382	0.88129	0.0:0.0:1.0:0.0	.	137;163;163	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	T	163;102;137;163;163;163;163	ENSP00000338746:A163T;ENSP00000424509:A102T;ENSP00000407091:A137T;ENSP00000383925:A163T;ENSP00000391942:A163T;ENSP00000427620:A163T	ENSP00000263498:A163T	A	+	1	0	NECAP2	16648281	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.042000	0.93793	2.760000	0.94817	0.655000	0.94253	GCA		0.532	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		18	55	0	0	0	1	0	18	55					A	16775694	G	A	16775694	3	1	79	1	0	0	0	0	1	0	0	0	10350	1087	38	1	505	1	NECAP2	1	16775694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5561	16775694	232474927	210	10527											
NBPF1	55672	broad.mit.edu	37	chr1	16892237	16892237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactggaaggagttgaataAcatctatccagtgagtcctg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16892237A>G	ENST00000430580.2	-	27	3842	c.2955T>C	c.(2953-2955)tgT>tgC	p.C985C		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTTGAATAACATCTATCCA	0.473																																						ENST00000430580.2																			0											c.(2953-2955)tgT>tgC		neuroblastoma breakpoint family, member 1							26	22	23					1																	16892237		1485	2604	4089	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892237A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2955T>C	1.37:g.16892237A>G							p.C985C	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3842	-			985			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2955T>C																																																																																					0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		94	5983	0	0	0	1	0	94	5983					G	16892237	A	G	16892237	2	3	79	1	0	0	0	0	0	0	0	1	10233	41	2	4		4	NBPF1	1	16892237	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116543	16892237	232358384	211	10528											
NBPF1	55672	broad.mit.edu	37	chr1	16902779	16902779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggctgagcttttggAcaaggtgctgtgccagtcta	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16902779A>G	ENST00000430580.2	-	19	2989	c.2102T>C	c.(2101-2103)gTc>gCc	p.V701A	NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Missense_Mutation_p.V66A|NBPF1_ENST00000432949.1_Missense_Mutation_p.V159A	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	701				QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418). {ECO:0000305}.		cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGCTTTTGGACAAGGTGCTG	0.567																																						ENST00000430580.2																			0											c.(2101-2103)gTc>gCc		neuroblastoma breakpoint family, member 1							130	144	139					1																	16902779		1510	2700	4210	SO:0001583	missense	55672					cytoplasm		g.chr1:16902779A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2102T>C	1.37:g.16902779A>G	ENSP00000474456:p.Val701Ala					NBPF1_ENST00000287968.8_Missense_Mutation_p.V66A|NBPF1_ENST00000432949.1_Missense_Mutation_p.V159A	p.V701A	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2989	-			701	QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418).				Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2102T>C																																																																																					0.567	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		34	2005	0	0	0	1	0	34	2005					G	16902779	A	G	16902779	3	3	79	1	0	0	0	0	1	0	0	0	10233	275	10	4	1366	4	NBPF1	1	16902779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10542	16902779	232347842	212	10529											
CROCC	9696	broad.mit.edu	37	chr1	17256517	17256517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcttgtgcagcggctGcagggcaaggtcaggaccac	15	13	1	0	rs529355496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17256517G>A	ENST00000375541.5	+	4	597	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCGGCTGCAGGGCAAGG	0.682													g|||	1	0.000199681	0.0	0.0	5008	,	,		23602	0.0		0.0	False		,,,				2504	0.001					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(526-528)ctG>ctA		ciliary rootlet coiled-coil, rootletin							12	13	13					1																	17256517		2190	4251	6441	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17256517G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.528G>A	1.37:g.17256517G>A						CROCC_ENST00000467938.1_3'UTR	p.L176L	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	597	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	176						Silent	SNP	ENST00000375541.5	37	c.528G>A	CCDS30616.1																																																																																				0.682	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	40	0	0	0	1	0	5	40					A	17256517	G	A	17256517	2	1	79	1	0	0	0	0	0	0	0	1	3902	1306	46	2		2	CROCC	1	17256517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353738	17256517	231994104	213	10530											
CROCC	9696	broad.mit.edu	37	chr1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcttcggacccagctgcGtctgctggaggatgcccgtg	15	12	1	1	rs145972878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.0		0.001	False		,,,				2504	0.0					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3490-3492)cGt>cAt		ciliary rootlet coiled-coil, rootletin		G	HIS/ARG	0,4370		0,0,2185	22	26	24		3491	2.4	1	1	dbSNP_134	24	8,8572		0,8,4282	yes	missense	CROCC	NM_014675.3	29	0,8,6467	AA,AG,GG		0.0932,0.0,0.0618	benign	1164/2018	17281832	8,12942	2185	4290	6475	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281832G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3491G>A	1.37:g.17281832G>A	ENSP00000364691:p.Arg1164His						p.R1164H	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3560	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1164						Missense_Mutation	SNP	ENST00000375541.5	37	c.3491G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017534	0.19355	0.0	9.32E-4	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.54479	0.57	4.31	2.39	0.29439	.	.	.	.	.	T	0.42810	0.1219	L	0.45137	1.4	0.28356	N	0.920651	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.40794	-0.9544	9	0.54805	T	0.06	.	8.2951	0.31980	0.2008:0.0:0.7992:0.0	.	467;1164	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1164;1045	ENSP00000364691:R1164H	ENSP00000364691:R1164H	R	+	2	0	CROCC	17154419	0.008000	0.16893	0.998000	0.56505	0.024000	0.10985	0.109000	0.15417	1.113000	0.41760	0.561000	0.74099	CGT		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		17	226	0	0	0	1	0	17	226					A	17281832	G	A	17281832	3	1	79	1	0	0	0	0	1	0	0	0	3902	1145	40	1	3585	1	CROCC	1	17281832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25315	17281832	231968789	214	10531											
CROCC	9696	broad.mit.edu	37	chr1	17281989	17281989	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcgaggccctgcgGcgttccaatgaggagcttcg	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3646-3648)cgG>cgT		ciliary rootlet coiled-coil, rootletin							21	13	16					1																	17281989		2160	4259	6419	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281989G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3648G>T	1.37:g.17281989G>T							p.R1216R	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3717	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1216						Silent	SNP	ENST00000375541.5	37	c.3648G>T	CCDS30616.1																																																																																				0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	52	1	0	0.000602214	1	0.000609647	5	52					T	17281989	G	T	17281989	2	4	79	1	0	0	0	0	0	0	0	1	3902	1190	42	3		3	CROCC	1	17281989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	17281989	231968632	215	10532											
CROCC	9696	broad.mit.edu	37	chr1	17296826	17296826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgagcggcggctgctgCaggagcgcctgggaagcctg	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17296826C>T	ENST00000375541.5	+	34	5599	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGCTGCTGCAGGAGCGCCT	0.687																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5530-5532)Cag>Tag		ciliary rootlet coiled-coil, rootletin							5	5	5					1																	17296826		1889	3811	5700	SO:0001587	stop_gained	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296826C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5530C>T	1.37:g.17296826C>T	ENSP00000364691:p.Gln1844*						p.Q1844*	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	34	5599	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1844						Nonsense_Mutation	SNP	ENST00000375541.5	37	c.5530C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	44	11.134003	0.99521	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.3426	0.83092	0.0:1.0:0.0:0.0	.	.	.	.	X	1844;1725	.	ENSP00000364691:Q1844X	Q	+	1	0	CROCC	17169413	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.884000	0.56175	2.546000	0.85860	0.655000	0.94253	CAG		0.687	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	44	0	0	0	1	0	4	44					T	17296826	C	T	17296826	4	4	79	1	0	0	0	0	0	1	0	0	3902	711	25	2	5664	2	CROCC	1	17296826	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14837	17296826	231953795	216	10533											
MFAP2	4237	broad.mit.edu	37	chr1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggtggccttcctacctCggaggagctcctcatgggca	15	12	1	0	rs372325611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	149					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				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)		CTTCCTACCTCGGAGGAGCTC	0.567																																						ENST00000375535.3																			0				kidney(1)|lung(1)	2						c.(445-447)cGa>cAa		microfibrillar-associated protein 2							96	74	81					1																	17301766		2203	4300	6503	SO:0001583	missense	4237					microfibril		g.chr1:17301766C>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.446G>A	1.37:g.17301766C>T	ENSP00000364685:p.Arg149Gln					MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR	p.R149Q			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)	8	735	-		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)	149					Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.446G>A	CCDS174.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956411	0.92726	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	L	0.59436	1.845	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.75935	-0.3142	9	0.49607	T	0.09	-26.3955	14.0767	0.64893	0.0:1.0:0.0:0.0	.	148;149	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	149;148;148	.	ENSP00000364684:R148Q	R	-	2	0	MFAP2	17174353	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.053000	0.57427	1.990000	0.58119	0.491000	0.48974	CGA		0.567	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		26	157	0	0	0	1	0	26	157					T	17301766	C	T	17301766	3	4	79	1	0	0	0	0	1	0	0	0	9555	884	31	1	113	1	MFAP2	1	17301766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	17301766	231948855	217	10534											
PADI2	11240	broad.mit.edu	37	chr1	17410236	17410236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctggatccagcgatcGcctcggtttaggtactggaa	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1033-1035)ggC>ggT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						117	112	114					1																	17410236		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17410236G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1035C>T	1.37:g.17410236G>A						PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	9	1098	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	345					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1035C>T	CCDS177.1																																																																																				0.532	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			50	351	0	0	0	1	0	50	351					A	17410236	G	A	17410236	2	1	79	1	0	0	0	0	0	0	0	1	11420	1074	38	1		1	PADI2	1	17410236	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108470	17410236	231840385	218	10535											
PADI1	29943	broad.mit.edu	37	chr1	17570600	17570600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggagaaggtgcagtcCctgctggagcctctgggcct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Silent_p.S175S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	618					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1852-1854)tcC>tcT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						89	81	84					1																	17570600		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570600C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1854C>T	1.37:g.17570600C>T						PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.S133S	p.S618S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	1946	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	618					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1854C>T	CCDS178.1																																																																																				0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		35	251	0	0	0	1	0	35	251					T	17570600	C	T	17570600	2	4	79	1	0	0	0	0	0	0	0	1	11419	610	22	2		2	PADI1	1	17570600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160364	17570600	231680021	219	10536											
PADI3	51702	broad.mit.edu	37	chr1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatctgcccacaggccgaGaaccgcaacgaccgctggat	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	341					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1021-1023)gaG>gaT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						45	42	43					1																	17597649		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597649G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1023G>T	1.37:g.17597649G>T	ENSP00000364609:p.Glu341Asp						p.E341D	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	9	1063	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	341					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1023G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593350	0.28357	.	.	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.35	2.39	0.29439	Protein-arginine deiminase, C-terminal (1);	0.157632	0.56097	D	0.000028	T	0.22085	0.0532	M	0.67397	2.05	0.36617	D	0.875516	B	0.27316	0.175	B	0.27887	0.084	T	0.11324	-1.0592	10	0.15952	T	0.53	-29.1634	6.0443	0.19752	0.0749:0.1355:0.6491:0.1405	.	341	Q9ULW8	PADI3_HUMAN	D	341	ENSP00000364609:E341D	ENSP00000364609:E341D	E	+	3	2	PADI3	17470236	1.000000	0.71417	0.959000	0.39883	0.776000	0.43924	2.966000	0.49208	0.229000	0.21039	0.655000	0.94253	GAG		0.627	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			10	181	1	0	1.58986e-06	1	1.64048e-06	10	181					T	17597649	G	T	17597649	3	4	79	1	0	0	0	0	1	0	0	0	11421	933	33	3	1057	3	PADI3	1	17597649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27049	17597649	231652972	220	10537											
PADI4	23569	broad.mit.edu	37	chr1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgacagagacaatctcGaatcttctgccatggactgc	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(478-480)Gaa>Aaa		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						152	128	136					1																	17664602		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17664602G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys					AC004824.2_ENST00000602074.1_Intron	p.E160K	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	5	504	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	160					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.478G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		70	338	0	0	0	1	0	70	338					A	17664602	G	A	17664602	3	1	79	1	0	0	0	0	1	0	0	0	11422	1059	37	1	496	1	PADI4	1	17664602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66953	17664602	231586019	221	10538											
PADI4	23569	broad.mit.edu	37	chr1	17674450	17674450	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacaggatgaaatggagatCggctacatccaagccccaca	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(1060-1062)atC>atT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						105	88	94					1																	17674450		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17674450C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1062C>T	1.37:g.17674450C>T						PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	p.I354I	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	10	1088	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	354					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1062C>T	CCDS180.1																																																																																				0.582	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		14	196	0	0	0	1	0	14	196					T	17674450	C	T	17674450	2	4	79	1	0	0	0	0	0	0	0	1	11422	874	31	1		1	PADI4	1	17674450	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9848	17674450	231576171	222	10539											
PADI6	353238	broad.mit.edu	37	chr1	17722154	17722154	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagagcagatcagctcctgtCtaatggtaagggaactccct	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	ENST00000434762.2	+	0	1664							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCTCCTGTCTAATGGTAAG	0.502																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						30	31	31					1																	17722154		1972	4152	6124			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17722154C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17722154C>T										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1664	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.502	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		7	62	0	0	0	1	0	7	62					T	17722154	C	T	17722154	1	4	79	0	1	0	0	0	0	0	0	0	11423	913	32	2		2	PADI6	1	17722154	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47704	17722154	231528467	223	10540											
RCC2	55920	broad.mit.edu	37	chr1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtcacctgcgcggggCtgggaacagcgtctgtctgg	19	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	245					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCGCGGGGCTGGGAACAGC	0.512																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(733-735)aGc>aTc		regulator of chromosome condensation 2							69	88	81					1																	17748709		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17748709C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.734G>T	1.37:g.17748709C>A	ENSP00000364585:p.Ser245Ile					RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	6	921	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	245					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.734G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849906	0.71603	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83914	-1.78;-1.78	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	D	0.85421	0.1143	10	0.35671	T	0.21	-32.6291	18.1041	0.89515	0.0:1.0:0.0:0.0	.	245	Q9P258	RCC2_HUMAN	I	245	ENSP00000364585:S245I;ENSP00000364582:S245I	ENSP00000364582:S245I	S	-	2	0	RCC2	17621296	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.253000	0.43205	2.711000	0.92665	0.561000	0.74099	AGC		0.512	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		59	526	1	0	6.26901e-30	1	7.33784e-30	59	526					A	17748709	C	A	17748709	3	1	79	1	0	0	0	0	1	0	0	0	13224	797	28	3	866	3	RCC2	1	17748709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26555	17748709	231501912	224	10541											
RCC2	55920	broad.mit.edu	37	chr1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgtcaaggccaaggtgTggttccgcccacatgctgca	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	213					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCCAAGGTGTGGTTCCGCCC	0.602																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(637-639)cAc>cCc		regulator of chromosome condensation 2							108	88	95					1																	17749218		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17749218T>G		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.638A>C	1.37:g.17749218T>G	ENSP00000364585:p.His213Pro					RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	5	825	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	213					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.638A>C	CCDS181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150176	0.78001	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.92048	-2.96;-2.96	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98922	1.0784	10	0.87932	D	0	-27.7457	14.0094	0.64486	0.0:0.0:0.0:1.0	.	213	Q9P258	RCC2_HUMAN	P	213	ENSP00000364585:H213P;ENSP00000364582:H213P	ENSP00000364582:H213P	H	-	2	0	RCC2	17621805	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.884000	0.87274	2.059000	0.61396	0.454000	0.30748	CAC		0.602	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		47	258	0	0	0	1	0	47	258					G	17749218	T	G	17749218	3	3	79	1	0	0	0	0	1	0	0	0	13224	1696	59	4	966	4	RCC2	1	17749218	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509	17749218	231501403	225	10542											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacatcaagcccccagccCcagagctgggccccatgcca	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	301						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCCCAGCCCCAGAGCTGGG	0.662																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(901-903)Cca>Aca		Rho guanine nucleotide exchange factor (GEF) 10-like							25	27	27					1																	17945899		2201	4300	6501	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17945899C>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.901C>A	1.37:g.17945899C>A	ENSP00000355060:p.Pro301Thr					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T	p.P301T	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	10	1060	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	301					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.901C>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750029	0.69533	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64803	0.23;0.33;0.07;0.33;-0.12;-0.05;2.14	4.75	4.75	0.60458	Dbl homology (DH) domain (1);	0.067931	0.64402	D	0.000013	T	0.68128	0.2967	L	0.39898	1.24	0.40256	D	0.978126	D;P;D;P;P;D;D;D	0.65815	0.983;0.952;0.995;0.939;0.918;0.982;0.99;0.982	P;P;D;P;P;P;P;P	0.66847	0.806;0.703;0.947;0.494;0.558;0.864;0.878;0.758	T	0.71119	-0.4685	10	0.66056	D	0.02	-23.3795	10.0588	0.42261	0.0:0.9064:0.0:0.0936	.	79;59;301;79;67;262;262;301	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	301;262;301;262;59;79;79;79	ENSP00000355060:P301T;ENSP00000399401:P262T;ENSP00000394621:P301T;ENSP00000364564:P262T;ENSP00000364569:P59T;ENSP00000364557:P79T;ENSP00000167825:P79T	ENSP00000167825:P79T	P	+	1	0	ARHGEF10L	17818486	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	3.486000	0.53215	2.203000	0.70933	0.561000	0.74099	CCA		0.662	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		11	104	1	0	2.80697e-09	1	2.95087e-09	11	104					A	17945899	C	A	17945899	3	1	79	1	0	0	0	0	1	0	0	0	895	623	22	3	935	3	ARHGEF10L	1	17945899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196681	17945899	231304722	226	10543											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023551	18023551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccgcaagaagggcatcctCttgcagtaccgcctgcgctc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000167825.4_Silent_p.L875L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1172						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGCATCCTCTTGCAGTACC	0.701																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3514-3516)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10-like							21	21	21					1																	18023551		2195	4295	6490	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023551C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3516C>T	1.37:g.18023551C>T						ARHGEF10L_ENST00000452522.1_Silent_p.L1133L|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L945L	p.L1172L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3675	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1172					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.3516C>T	CCDS182.1																																																																																				0.701	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		30	82	0	0	0	1	0	30	82					T	18023551	C	T	18023551	2	4	79	1	0	0	0	0	0	0	0	1	895	900	32	2		2	ARHGEF10L	1	18023551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77652	18023551	231227070	227	10544											
ACTL8	81569	broad.mit.edu	37	chr1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtgtgagcctgggcatcGacatttgccatcctgacacc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D56Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572																																						ENST00000375406.1																			1	Substitution - Missense(1)	p.D56Y(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(166-168)Gac>Aac		actin-like 8							134	119	124					1																	18149669		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149669G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.166G>A	1.37:g.18149669G>A	ENSP00000364555:p.Asp56Asn						p.D56N	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	382	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	56					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.166G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218870	0.95104	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.98	0.75	0.18387	.	0.337294	0.21390	N	0.075327	D	0.87857	0.6283	L	0.43152	1.355	0.21627	N	0.999612	B	0.18968	0.032	B	0.17979	0.02	T	0.79827	-0.1639	10	0.87932	D	0	-46.8186	6.0606	0.19837	0.4579:0.0:0.5421:0.0	.	56	Q9H568	ACTL8_HUMAN	N	56	ENSP00000364555:D56N	ENSP00000364555:D56N	D	+	1	0	ACTL8	18022256	0.999000	0.42202	0.777000	0.31699	0.724000	0.41520	3.131000	0.50515	0.294000	0.22547	0.655000	0.94253	GAC		0.572	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		12	598	0	0	0	1	0	12	598					A	18149669	G	A	18149669	3	1	79	1	0	0	0	0	1	0	0	0	202	1058	37	1	168	1	ACTL8	1	18149669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126118	18149669	231100952	228	10545											
IGSF21	84966	broad.mit.edu	37	chr1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaacataccagagaCggtcgtgagccgtgagtttc	12	10	0	4	rs538117555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	268						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATACCAGAGACGGTCGTGAGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17509	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(802-804)aCg>aTg		immunoglobin superfamily, member 21							114	119	118					1																	18691979		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18691979C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.803C>T	1.37:g.18691979C>T	ENSP00000251296:p.Thr268Met						p.T268M	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1186	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	268					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.803C>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176491	0.78564	.	.	ENSG00000117154	ENST00000251296	T	0.59224	0.28	4.28	4.28	0.50868	.	0.151120	0.64402	D	0.000016	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.63769	-0.6562	10	0.49607	T	0.09	-3.8792	15.7859	0.78304	0.0:1.0:0.0:0.0	.	268	Q96ID5	IGS21_HUMAN	M	268	ENSP00000251296:T268M	ENSP00000251296:T268M	T	+	2	0	IGSF21	18564566	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.953000	0.75995	2.383000	0.81215	0.561000	0.74099	ACG		0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		82	804	0	0	0	1	0	82	804					T	18691979	C	T	18691979	3	4	79	1	0	0	0	0	1	0	0	0	7629	536	19	1	825	1	IGSF21	1	18691979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	542310	18691979	230558642	229	10546											
IGSF21	84966	broad.mit.edu	37	chr1	18692065	18692065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaccccgagcagtgacGgcactgtggaagtacgtgcc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18692065G>A	ENST00000251296.1	+	6	1272	c.889G>A	c.(889-891)Ggc>Agc	p.G297S		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	297						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGCAGTGACGGCACTGTGGA	0.632																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(889-891)Ggc>Agc		immunoglobin superfamily, member 21							113	97	103					1																	18692065		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692065G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.889G>A	1.37:g.18692065G>A	ENSP00000251296:p.Gly297Ser						p.G297S	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1272	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	297					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.889G>A	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.067283|5.067283	0.93898|0.93898	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|.	0.62232|.	0.04|.	4.28|4.28	4.28|4.28	0.50868|0.50868	Immunoglobulin-like fold (1);|.	0.047421|.	0.85682|.	D|.	0.000000|.	T|T	0.55210|0.55210	0.1906|0.1906	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.51616|0.51616	-0.8683|-0.8683	10|5	0.25751|.	T|.	0.34|.	-6.8934|-6.8934	15.7859|15.7859	0.78304|0.78304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|.	Q96ID5|.	IGS21_HUMAN|.	S|Q	297|249	ENSP00000251296:G297S|.	ENSP00000251296:G297S|.	G|R	+|+	1|2	0|0	IGSF21|IGSF21	18564652|18564652	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.917000|0.917000	0.54804|0.54804	8.821000|8.821000	0.92009|0.92009	2.383000|2.383000	0.81215|0.81215	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		135	527	0	0	0	1	0	135	527					A	18692065	G	A	18692065	3	1	79	1	0	0	0	0	1	0	0	0	7629	1116	39	1	911	1	IGSF21	1	18692065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	18692065	230558556	230	10547											
IGSF21	84966	broad.mit.edu	37	chr1	18703915	18703915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcccaagaggaacggaGgactctaatggtaagtctct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	441						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGGAACGGAGGACTCTAATG	0.478																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1321-1323)gaG>gaA		immunoglobin superfamily, member 21							122	120	120					1																	18703915		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18703915G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1323G>A	1.37:g.18703915G>A							p.E441E	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	9	1706	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	441					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.1323G>A	CCDS184.1																																																																																				0.478	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		29	429	0	0	0	1	0	29	429					A	18703915	G	A	18703915	2	1	79	1	0	0	0	0	0	0	0	1	7629	991	35	2		2	IGSF21	1	18703915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11850	18703915	230546706	231	10548											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgacacaaagggtgcagccGaaagagccgcctccccgcag	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	344						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1030-1032)Gaa>Aaa		kelch domain containing 7A							13	16	15					1																	18808505		2139	4208	6347	SO:0001583	missense	127707					integral to membrane		g.chr1:18808505G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1030G>A	1.37:g.18808505G>A	ENSP00000383505:p.Glu344Lys						p.E344K	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1082	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	344					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1030G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420592	0.42918	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72835	-0.69	5.31	-1.49	0.08718	.	4.598840	0.00649	N	0.000548	T	0.52741	0.1753	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.45353	T	0.12	.	5.4834	0.16737	0.3099:0.4088:0.2813:0.0	.	281;344	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	K	344;281	ENSP00000383505:E344K	ENSP00000383505:E344K	E	+	1	0	KLHDC7A	18681092	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.470000	0.22084	-0.314000	0.08716	0.313000	0.20887	GAA		0.672	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		11	148	0	0	0	1	0	11	148					A	18808505	G	A	18808505	3	1	79	1	0	0	0	0	1	0	0	0	8390	1059	37	1	1032	1	KLHDC7A	1	18808505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104590	18808505	230442116	232	10549											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809562	18809562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgccgtgtaccgctgcaGcgccagcacccggctctggt	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18809562G>T	ENST00000400664.1	+	1	2139	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	696						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCAGCGCCAGCACC	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2086-2088)aGc>aTc		kelch domain containing 7A							74	64	67					1																	18809562		2203	4299	6502	SO:0001583	missense	127707					integral to membrane		g.chr1:18809562G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2087G>T	1.37:g.18809562G>T	ENSP00000383505:p.Ser696Ile						p.S696I	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2139	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	696					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2087G>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620703	0.66787	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.67865	-0.29	4.81	2.91	0.33838	Kelch-type beta propeller (1);	0.322414	0.32703	N	0.005745	T	0.63838	0.2545	L	0.44542	1.39	0.28668	N	0.905798	P;D	0.54397	0.904;0.966	P;P	0.49597	0.514;0.616	T	0.60880	-0.7175	10	0.66056	D	0.02	.	10.2337	0.43270	0.1672:0.0:0.8328:0.0	.	633;696	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	I	696;633	ENSP00000383505:S696I	ENSP00000383505:S696I	S	+	2	0	KLHDC7A	18682149	0.959000	0.32827	0.998000	0.56505	0.969000	0.65631	2.181000	0.42547	0.417000	0.25871	0.655000	0.94253	AGC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		8	349	1	0	0.000157383	1	0.000159814	8	349					T	18809562	G	T	18809562	3	4	79	1	0	0	0	0	1	0	0	0	8390	971	34	3	2089	3	KLHDC7A	1	18809562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	18809562	230441059	233	10550											
PAX7	5081	broad.mit.edu	37	chr1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcggaccacattcacggCcgagcagctggaggagctgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000375375.3	+	5	1275	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000420770.2_Missense_Mutation_p.A226V|PAX7_ENST00000400661.3_Missense_Mutation_p.A224V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	226					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACATTCACGGCCGAGCAGCTG	0.637			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(676-678)gCc>gTc		paired box 7							43	37	39					1																	19018338		2202	4300	6502	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018338C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.677C>T	1.37:g.19018338C>T	ENSP00000364524:p.Ala226Val					PAX7_ENST00000400661.3_Missense_Mutation_p.A224V|PAX7_ENST00000375375.3_Missense_Mutation_p.A226V	p.A226V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	760	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	226					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.677C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780423	0.70222	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.112115	0.64402	D	0.000012	D	0.92922	0.7748	L	0.37897	1.145	0.80722	D	1	P;P;B	0.47762	0.571;0.9;0.151	P;P;B	0.45660	0.489;0.477;0.192	D	0.92496	0.6004	10	0.72032	D	0.01	.	12.0368	0.53429	0.0:0.9151:0.0:0.0849	.	226;224;226	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	226;226;224	ENSP00000364524:A226V;ENSP00000403389:A226V;ENSP00000383502:A224V	ENSP00000364524:A226V	A	+	2	0	PAX7	18890925	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.783000	0.85696	1.104000	0.41587	-0.136000	0.14681	GCC		0.637	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		15	109	0	0	0	1	0	15	109					T	19018338	C	T	19018338	3	4	79	1	0	0	0	0	1	0	0	0	11526	739	26	2	695	2	PAX7	1	19018338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208776	19018338	230232283	234	10551											
TAS1R2	80834	broad.mit.edu	37	chr1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggtgaccagcaccccgCtgtaggcagacatgaaggtg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	784					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2350-2352)aGc>aAc		taste receptor, type 1, member 2	Aspartame(DB00168)						122	92	102					1																	19166262		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166262C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2351G>A	1.37:g.19166262C>T	ENSP00000364520:p.Ser784Asn						p.S784N	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2372	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	784					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2351G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733088	0.00687	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.06	1.4	0.22301	GPCR, family 3, C-terminal (2);	2.888830	0.01588	N	0.021403	T	0.68559	0.3014	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61292	-0.7092	10	0.19147	T	0.46	.	6.9083	0.24321	0.0:0.2752:0.0:0.7248	.	784	Q8TE23	TS1R2_HUMAN	N	784	ENSP00000364520:S784N	ENSP00000364520:S784N	S	-	2	0	TAS1R2	19038849	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.137000	0.15995	0.002000	0.14630	-1.750000	0.00680	AGC		0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			31	148	0	0	0	1	0	31	148					T	19166262	C	T	19166262	3	4	79	1	0	0	0	0	1	0	0	0	15615	797	28	2	172	2	TAS1R2	1	19166262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147924	19166262	230084359	235	10552											
TAS1R2	80834	broad.mit.edu	37	chr1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaccgtgttgttgatgGtgtgccaggagatgtcttgg	17	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	485					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1453-1455)aCc>aTc		taste receptor, type 1, member 2	Aspartame(DB00168)						82	72	75					1																	19175848		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19175848G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1454C>T	1.37:g.19175848G>A	ENSP00000364520:p.Thr485Ile					RP13-279N23.2_ENST00000494072.3_3'UTR	p.T485I	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	1475	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	485					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1454C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463389	0.26248	.	.	ENSG00000179002	ENST00000375371	D	0.89746	-2.56	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000173	D	0.87366	0.6159	N	0.19112	0.55	0.22911	N	0.998575	D	0.89917	1.0	D	0.76575	0.988	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.1144	0.25409	0.0:0.1891:0.6151:0.1958	.	485	Q8TE23	TS1R2_HUMAN	I	485	ENSP00000364520:T485I	ENSP00000364520:T485I	T	-	2	0	TAS1R2	19048435	1.000000	0.71417	0.603000	0.28903	0.230000	0.25150	3.622000	0.54217	0.478000	0.27488	0.561000	0.74099	ACC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			19	251	0	0	0	1	0	19	251					A	19175848	G	A	19175848	3	1	79	1	0	0	0	0	1	0	0	0	15615	1261	44	2	1077	2	TAS1R2	1	19175848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9586	19175848	230074773	236	10553											
TAS1R2	80834	broad.mit.edu	37	chr1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggtacagggtcaggtCgggcgagaacacgaccacga	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	278					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(832-834)Gac>Aac		taste receptor, type 1, member 2	Aspartame(DB00168)						63	57	59					1																	19181132		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181132C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.832G>A	1.37:g.19181132C>T	ENSP00000364520:p.Asp278Asn					RP13-279N23.2_ENST00000494072.3_3'UTR	p.D278N	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	853	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	278					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.832G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091015	0.55968	.	.	ENSG00000179002	ENST00000375371	D	0.82984	-1.67	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.820936	0.10616	N	0.653957	D	0.86481	0.5943	L	0.43152	1.355	0.28072	N	0.93254	D	0.69078	0.997	P	0.62560	0.904	T	0.77354	-0.2619	10	0.18710	T	0.47	.	15.8175	0.78615	0.0:1.0:0.0:0.0	.	278	Q8TE23	TS1R2_HUMAN	N	278	ENSP00000364520:D278N	ENSP00000364520:D278N	D	-	1	0	TAS1R2	19053719	0.004000	0.15560	0.173000	0.22940	0.028000	0.11728	0.976000	0.29462	2.607000	0.88179	0.561000	0.74099	GAC		0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			18	173	0	0	0	1	0	18	173					T	19181132	C	T	19181132	3	4	79	1	0	0	0	0	1	0	0	0	15615	884	31	1	1703	1	TAS1R2	1	19181132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5284	19181132	230069489	237	10554											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209672	19209672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtgaagttaaagggCgagatggccgccacgaagcc	14	9	0	2	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Silent_p.S208S|ALDH4A1_ENST00000538839.1_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTAAAGGGCGAGATGGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16822	0.0		0.0	False		,,,				2504	0.0					ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(622-624)tcG>tcA		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)	C	,,	1,4403	2.1+/-5.4	0,1,2201	38	41	40		444,624,624	-10.8	0.2	1	dbSNP_134	40	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	148/504,208/564,208/564	19209672	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209672C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.624G>A	1.37:g.19209672C>T						ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000538839.1_Silent_p.S208S	p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	881	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	208					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.624G>A	CCDS188.1																																																																																				0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			29	401	0	0	0	1	0	29	401					T	19209672	C	T	19209672	2	4	79	1	0	0	0	0	0	0	0	1	501	755	27	1		1	ALDH4A1	1	19209672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28540	19209672	230040949	238	10555											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaggtacctccagacCccggtacaccgtgctgttgg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	199					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCAGACCCCGGTACACC	0.657																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(595-597)Ggt>Agt		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						42	40	41					1																	19209781		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209781C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.595G>A	1.37:g.19209781C>T	ENSP00000364490:p.Gly199Ser					ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S	p.G199S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	852	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	199					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.595G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331689	0.81690	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.51537	-0.8693	10	0.25106	T	0.35	-37.3033	17.7436	0.88413	0.0:1.0:0.0:0.0	.	199	P30038	AL4A1_HUMAN	S	199;199;199;139;183;97;139;183	ENSP00000290597:G199S;ENSP00000364490:G199S;ENSP00000446071:G199S;ENSP00000442988:G139S;ENSP00000393209:G183S	ENSP00000290597:G199S	G	-	1	0	ALDH4A1	19082368	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.184000	0.77705	2.537000	0.85549	0.561000	0.74099	GGT		0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			58	213	0	0	0	1	0	58	213					T	19209781	C	T	19209781	3	4	79	1	0	0	0	0	1	0	0	0	501	623	22	2	1136	2	ALDH4A1	1	19209781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	19209781	230040840	239	10556											
ALDH4A1	8659	broad.mit.edu	37	chr1	19212023	19212023	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgcggcccactcagcatgtCtgccgccttcaggaagatct	11	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	ENST00000375341.3	-	5	654	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	133					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGCATGTCTGCCGCCTTC	0.662																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(397-399)Gac>Tac		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						33	30	31					1																	19212023		2202	4300	6502	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19212023C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.397G>T	1.37:g.19212023C>A	ENSP00000364490:p.Asp133Tyr					ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y	p.D133Y	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	654	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	133					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.397G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142755	0.77888	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94986	0.8130	10	0.87932	D	0	-22.533	17.7644	0.88473	0.0:1.0:0.0:0.0	.	133	P30038	AL4A1_HUMAN	Y	133;133;133;73;117;31;73;117	ENSP00000290597:D133Y;ENSP00000364490:D133Y;ENSP00000446071:D133Y;ENSP00000442988:D73Y;ENSP00000393209:D117Y	ENSP00000290597:D133Y	D	-	1	0	ALDH4A1	19084610	1.000000	0.71417	0.098000	0.21074	0.704000	0.40688	7.186000	0.77722	2.551000	0.86045	0.561000	0.74099	GAC		0.662	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			11	56	1	0	0.000673444	1	0.000681208	11	56					A	19212023	C	A	19212023	3	1	79	1	0	0	0	0	1	0	0	0	501	913	32	3	1338	3	ALDH4A1	1	19212023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	19212023	230038598	240	10557											
UBR4	23352	broad.mit.edu	37	chr1	19428113	19428113	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgcacacagccatgaaGgccttggtttctgattctgt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19428113G>T	ENST00000375254.3	-	88	12951	c.12924C>A	c.(12922-12924)gcC>gcA	p.A4308A	UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000375267.2_Silent_p.A4308A|UBR4_ENST00000429347.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCATGAAGGCCTTGGTTT	0.493																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(12922-12924)gcC>gcA		ubiquitin protein ligase E3 component n-recognin 4							123	113	116					1																	19428113		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19428113G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12924C>A	1.37:g.19428113G>T						UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375254.3_Silent_p.A4308A|UBR4_ENST00000543981.1_5'UTR	p.A4308A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	88	12927	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4308					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.12924C>A	CCDS189.1																																																																																				0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	507	1	0	0.000442599	1	0.000448314	9	507					T	19428113	G	T	19428113	2	4	79	1	0	0	0	0	0	0	0	1	16958	987	35	3		3	UBR4	1	19428113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216090	19428113	229822508	241	10558											
UBR4	23352	broad.mit.edu	37	chr1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctttacctgtgagacTtttaagggcataaccctgct	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375254.3	-	86	12745	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000543981.1_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4240					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTGAGACTTTTAAGGGCA	0.517																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(12718-12720)Agt>Ggt		ubiquitin protein ligase E3 component n-recognin 4							68	58	62					1																	19431088		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19431088T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12718A>G	1.37:g.19431088T>C	ENSP00000364403:p.Ser4240Gly					UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375254.3_Missense_Mutation_p.S4240G	p.S4240G			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	86	12721	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4240					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.12718A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723048	0.68959	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.19112	0.55	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58177	-0.7682	10	0.22109	T	0.4	.	14.002	0.64439	0.0:0.0:0.0:1.0	.	4240	Q5T4S7	UBR4_HUMAN	G	4240;4240;4233;4216	ENSP00000364403:S4240G;ENSP00000364416:S4240G;ENSP00000364365:S4233G;ENSP00000364374:S4216G	ENSP00000364365:S4233G	S	-	1	0	UBR4	19303675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.326000	0.78906	0.533000	0.62120	AGT		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		14	103	0	0	0	1	0	14	103					C	19431088	T	C	19431088	3	2	79	1	0	0	0	0	1	0	0	0	16958	1609	56	4	2917	4	UBR4	1	19431088	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2975	19431088	229819533	242	10559											
UBR4	23352	broad.mit.edu	37	chr1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaggaggaagaagcaCtggaggatcccgaagaggct	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375254.3	-	68	10058	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3344	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAAGAAGCACTGGAGGATCC	0.557																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(10030-10032)aGt>aTt		ubiquitin protein ligase E3 component n-recognin 4							52	57	55					1																	19447793		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447793C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10031G>T	1.37:g.19447793C>A	ENSP00000364403:p.Ser3344Ile					UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375254.3_Missense_Mutation_p.S3344I	p.S3344I			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	10034	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3344			Ser-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10031G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124794	0.56613	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25085	1.82;1.82;1.83;1.83	5.95	5.04	0.67666	.	1.898250	0.01993	N	0.045680	T	0.20251	0.0487	N	0.12182	0.205	0.29740	N	0.837165	B	0.20671	0.047	B	0.21360	0.034	T	0.16482	-1.0401	10	0.51188	T	0.08	.	9.5203	0.39131	0.0:0.781:0.1444:0.0746	.	3344	Q5T4S7	UBR4_HUMAN	I	3344;3344;3337;3320;952;2030	ENSP00000364403:S3344I;ENSP00000364416:S3344I;ENSP00000364365:S3337I;ENSP00000364374:S3320I	ENSP00000364365:S3337I	S	-	2	0	UBR4	19320380	0.904000	0.30761	0.063000	0.19743	0.938000	0.57974	3.191000	0.50981	1.511000	0.48818	0.655000	0.94253	AGT		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		33	304	1	0	1.80694e-10	1	1.9163e-10	33	304					A	19447793	C	A	19447793	3	1	79	1	0	0	0	0	1	0	0	0	16958	565	20	3	5676	3	UBR4	1	19447793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16705	19447793	229802828	243	10560											
UBR4	23352	broad.mit.edu	37	chr1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagggtaaagtcacatgtCtccgtttgttcctgggcctt	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375254.3	-	55	8162	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2712					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTCACATGTCTCCGTTTGTT	0.488																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8134-8136)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 4							250	216	228					1																	19470518		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19470518C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8135G>A	1.37:g.19470518C>T	ENSP00000364403:p.Arg2712Lys					UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375254.3_Missense_Mutation_p.R2712K	p.R2712K			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	55	8138	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2712					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8135G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256004	0.95336	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.59224	1.39;1.38;0.28;1.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.67503	-0.5654	10	0.49607	T	0.09	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2712	Q5T4S7	UBR4_HUMAN	K	2712;2712;2740;2723;355;1433	ENSP00000364403:R2712K;ENSP00000364416:R2712K;ENSP00000364365:R2740K;ENSP00000364374:R2723K	ENSP00000364365:R2740K	R	-	2	0	UBR4	19343105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	AGA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		60	506	0	0	0	1	0	60	506					T	19470518	C	T	19470518	3	4	79	1	0	0	0	0	1	0	0	0	16958	913	32	2	7624	2	UBR4	1	19470518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22725	19470518	229780103	244	10561											
UBR4	23352	broad.mit.edu	37	chr1	19500066	19500066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttgatggtggtaaaattCctaggatcctccacagtatc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19500066C>T	ENST00000375254.3	-	23	3059	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1011E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1011					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTAAAATTCCTAGGATCCT	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(3031-3033)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 4							108	100	103					1																	19500066		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19500066C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3032G>A	1.37:g.19500066C>T	ENSP00000364403:p.Gly1011Glu					UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375254.3_Missense_Mutation_p.G1011E	p.G1011E			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	23	3035	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1011					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3032G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384326	0.82792	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.40543	1.245	0.80722	D	1	P	0.47106	0.89	B	0.42245	0.381	T	0.27706	-1.0066	10	0.31617	T	0.26	.	19.1194	0.93357	0.0:1.0:0.0:0.0	.	1011	Q5T4S7	UBR4_HUMAN	E	1011;1011;1011;1011;227	ENSP00000364403:G1011E;ENSP00000364416:G1011E;ENSP00000364365:G1011E;ENSP00000364374:G1011E	ENSP00000364365:G1011E	G	-	2	0	UBR4	19372653	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.484000	0.81180	2.605000	0.88082	0.655000	0.94253	GGA		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	186	0	0	0	1	0	8	186					T	19500066	C	T	19500066	3	4	79	1	0	0	0	0	1	0	0	0	16958	855	30	2	12855	2	UBR4	1	19500066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29548	19500066	229750555	245	10562											
UBR4	23352	broad.mit.edu	37	chr1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatagcgtaggaaatatgGcaggttcaaacatacacgca	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375254.3	-	7	817	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAATATGGCAGGTTCAAA	0.423																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(790-792)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 4							155	150	152					1																	19524267		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19524267G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.790C>A	1.37:g.19524267G>T	ENSP00000364403:p.Pro264Thr					UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375254.3_Missense_Mutation_p.P264T	p.P264T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	7	793	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	264					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.790C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341787	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.35605	1.33;1.33;1.3;1.31	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.20706	-1.0267	10	0.87932	D	0	.	13.4566	0.61201	0.0754:0.0:0.9246:0.0	.	264	Q5T4S7	UBR4_HUMAN	T	264	ENSP00000364403:P264T;ENSP00000364416:P264T;ENSP00000364365:P264T;ENSP00000364374:P264T	ENSP00000364365:P264T	P	-	1	0	UBR4	19396854	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.383000	0.73172	1.460000	0.47911	0.650000	0.86243	CCA		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		30	668	1	0	5.52252e-06	1	5.67046e-06	30	668					T	19524267	G	T	19524267	3	4	79	1	0	0	0	0	1	0	0	0	16958	1203	42	3	15161	3	UBR4	1	19524267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24201	19524267	229726354	246	10563											
UBR4	23352	broad.mit.edu	37	chr1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttggggcagcttggCggatttcatcattgctgtaa	12	8	2	0	rs200832235	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375254.3	-	4	499	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	158					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCTTGGCGGATTTCATC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.0					ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(472-474)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4		C	THR/ALA	0,4406		0,0,2203	141	140	140		472	5.4	1	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	158/5184	19525329	1,13005	2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19525329C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.472G>A	1.37:g.19525329C>T	ENSP00000364403:p.Ala158Thr					UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375254.3_Missense_Mutation_p.A158T	p.A158T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	4	475	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	158					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.472G>A	CCDS189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.2	4.384119	0.82792	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.28255	1.64;1.63;1.62;1.62	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.38175	1.15	0.80722	D	1	P	0.43431	0.807	B	0.26614	0.071	T	0.06356	-1.0831	10	0.66056	D	0.02	.	12.8274	0.57726	0.1632:0.8367:0.0:0.0	.	158	Q5T4S7	UBR4_HUMAN	T	158	ENSP00000364403:A158T;ENSP00000364416:A158T;ENSP00000364365:A158T;ENSP00000364374:A158T	ENSP00000364365:A158T	A	-	1	0	UBR4	19397916	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.885000	0.69736	2.536000	0.85505	0.563000	0.77884	GCC		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		45	487	0	0	0	1	0	45	487					T	19525329	C	T	19525329	3	4	79	1	0	0	0	0	1	0	0	0	16958	768	27	1	15491	1	UBR4	1	19525329	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1062	19525329	229725292	247	10564											
KIAA0090	23065	broad.mit.edu	37	chr1	19545802	19545802	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctttgttctttatcGccaggcccgattcaggagct	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19545802G>A	ENST00000477853.1	-	23	3019	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	993						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTTCTTTATCGCCAGGCCCGA	0.507																																						ENST00000477853.1																			0											c.(2977-2979)Cga>Tga		ER membrane protein complex subunit 1							71	67	68					1																	19545802		2203	4300	6503	SO:0001587	stop_gained	23065							g.chr1:19545802G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2977C>T	1.37:g.19545802G>A	ENSP00000420608:p.Arg993*					EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR	p.R993*	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					23	3019	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Nonsense_Mutation	SNP	ENST00000477853.1	37	c.2977C>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.370882|7.370882	0.98241|0.98241	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|.	.|.	.|.	6.06|6.06	4.12|4.12	0.48240|0.48240	.|.	.|0.049774	.|0.85682	.|D	.|0.000000	T|.	0.49372|.	0.1553|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27905|.	-1.0060|.	4|.	.|0.11794	.|T	.|0.64	.|.	12.0734|12.0734	0.53630|0.53630	0.0:0.1312:0.7322:0.1365|0.0:0.1312:0.7322:0.1365	.|.	.|.	.|.	.|.	V|X	617|993;992;971	.|.	.|ENSP00000364345:R992X	A|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418389|19418389	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	5.288000|5.288000	0.65651|0.65651	0.823000|0.823000	0.34589|0.34589	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		54	188	0	0	0	1	0	54	188					A	19545802	G	A	19545802	4	1	79	1	0	0	0	0	0	1	0	0	8183	1095	38	1	8	1	KIAA0090	1	19545802	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20473	19545802	229704819	248	10565											
KIAA0090	23065	broad.mit.edu	37	chr1	19549260	19549260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggtggcgttgtattgCtcagtgccctcatagagctc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19549260C>A	ENST00000477853.1	-	20	2487	c.2445G>T	c.(2443-2445)gaG>gaT	p.E815D	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E793D|EMC1_ENST00000375199.3_Missense_Mutation_p.E814D|EMC1_ENST00000480380.1_5'Flank	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	815						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CGTTGTATTGCTCAGTGCCCT	0.602																																						ENST00000477853.1																			0											c.(2443-2445)gaG>gaT		ER membrane protein complex subunit 1							135	116	122					1																	19549260		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19549260C>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2445G>T	1.37:g.19549260C>A	ENSP00000420608:p.Glu815Asp					EMC1_ENST00000375208.3_Missense_Mutation_p.E793D|EMC1_ENST00000375199.3_Missense_Mutation_p.E814D|RP1-43E13.2_ENST00000437898.1_RNA	p.E815D	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					20	2487	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2445G>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.475737|2.475737	0.44044|0.44044	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405	.|T;T;T	.|0.26373	.|1.74;1.74;1.74	5.98|5.98	2.04|2.04	0.26737|0.26737	.|Domain of unknown function DUF1620 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30324|0.30324	0.0761|0.0761	L|L	0.33624|0.33624	1.015|1.015	0.80722|0.80722	D|D	1|1	.|P;B;D;D	.|0.71674	.|0.732;0.39;0.998;0.998	.|P;B;D;D	.|0.69654	.|0.561;0.439;0.941;0.965	T|T	0.06058|0.06058	-1.0848|-1.0848	5|10	.|0.14252	.|T	.|0.57	-33.9746|-33.9746	8.4811|8.4811	0.33043|0.33043	0.0:0.6276:0.0:0.3724|0.0:0.6276:0.0:0.3724	.|.	.|793;814;814;815	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	S|D	549|815;814;793;60	.|ENSP00000420608:E815D;ENSP00000364345:E814D;ENSP00000364354:E793D	.|ENSP00000364345:E814D	A|E	-|-	1|3	0|2	KIAA0090|KIAA0090	19421847|19421847	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.704000|0.704000	0.40688|0.40688	2.977000|2.977000	0.49297|0.49297	0.420000|0.420000	0.25954|0.25954	-0.136000|-0.136000	0.14681|0.14681	GCA|GAG		0.602	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		9	241	1	0	3.09899e-07	1	3.21319e-07	9	241					A	19549260	C	A	19549260	3	1	79	1	0	0	0	0	1	0	0	0	8183	796	28	3	552	3	KIAA0090	1	19549260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3458	19549260	229701361	249	10566											
KIAA0090	23065	broad.mit.edu	37	chr1	19566393	19566393	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttggggacaagtgcaggaaGaactgggcccgggaagcgtc	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19566393G>T	ENST00000477853.1	-	8	915	c.873C>A	c.(871-873)ttC>ttA	p.F291L	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.F269L|EMC1_ENST00000375199.3_Missense_Mutation_p.F291L	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	291						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGTGCAGGAAGAACTGGGCCC	0.537																																						ENST00000477853.1																			0											c.(871-873)ttC>ttA		ER membrane protein complex subunit 1							62	65	64					1																	19566393		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19566393G>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.873C>A	1.37:g.19566393G>T	ENSP00000420608:p.Phe291Leu					EMC1_ENST00000375208.3_Missense_Mutation_p.F269L|EMC1_ENST00000375199.3_Missense_Mutation_p.F291L|RP1-43E13.2_ENST00000437898.1_RNA	p.F291L	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					8	915	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.873C>A	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.248245|3.248245	0.59103|0.59103	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.24151|.	1.9;1.9;1.87|.	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.71674|.	0.487;0.734;0.998;0.997|.	B;B;D;D|.	0.80764|.	0.301;0.301;0.994;0.985|.	T|T	0.67114|0.67114	-0.5752|-0.5752	10|5	0.32370|.	T|.	0.25|.	.|.	13.6583|13.6583	0.62352|0.62352	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	269;291;291;291|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	L|I	291;291;269|26	ENSP00000420608:F291L;ENSP00000364345:F291L;ENSP00000364354:F269L|.	ENSP00000364345:F291L|.	F|L	-|-	3|1	2|0	KIAA0090|KIAA0090	19438980|19438980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.317000|4.317000	0.59184|0.59184	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.537	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		13	193	1	0	9.31168e-06	1	9.55451e-06	13	193					T	19566393	G	T	19566393	3	4	79	1	0	0	0	0	1	0	0	0	8183	933	33	3	2172	3	KIAA0090	1	19566393	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17133	19566393	229684228	250	10567											
MRTO4	51154	broad.mit.edu	37	chr1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgggcctgcccaccGccctcaagagaggtatgggc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			1	Substitution - Missense(1)	p.A161T(1)	breast(1)	breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(481-483)Gcc>Acc		mRNA turnover 4 homolog (S. cerevisiae)							30	35	33					1																	19584466		2203	4299	6502	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584466G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.481G>A	1.37:g.19584466G>A	ENSP00000364320:p.Ala161Thr						p.A161T	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	778	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	161					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.481G>A	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	MRTO4	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC		0.597	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		55	256	0	0	0	1	0	55	256					A	19584466	G	A	19584466	3	1	79	1	0	0	0	0	1	0	0	0	9893	1087	38	1	503	1	MRTO4	1	19584466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18073	19584466	229666155	251	10568											
MRTO4	51154	broad.mit.edu	37	chr1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgacttgccagagagcGcatctgagtccacagaagag	13	10	1	5	rs146948534	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	226					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507													.|||	12	0.00239617	0.0	0.0	5008	,	,		16911	0.0		0.0	False		,,,				2504	0.0123				GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(676-678)Gca>Aca		mRNA turnover 4 homolog (S. cerevisiae)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70	69	69		676	0.7	0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense	MRTO4	NM_016183.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	226/240	19585280	1,13005	2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19585280G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.676G>A	1.37:g.19585280G>A	ENSP00000364320:p.Ala226Thr						p.A226T	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	973	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	226					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.676G>A	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497115	0.26861	2.27E-4	0.0	ENSG00000053372	ENST00000330263	.	.	.	5.31	0.673	0.17941	.	1.141820	0.06171	N	0.677709	T	0.39627	0.1085	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	9	0.14252	T	0.57	-6.6866	8.487	0.33078	0.3954:0.0:0.6046:0.0	.	226	Q9UKD2	MRT4_HUMAN	T	226	.	ENSP00000364320:A226T	A	+	1	0	MRTO4	19457867	0.002000	0.14202	0.005000	0.12908	0.180000	0.23129	1.055000	0.30467	0.308000	0.22923	0.591000	0.81541	GCA		0.507	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		57	201	0	0	0	1	0	57	201					A	19585280	G	A	19585280	3	1	79	1	0	0	0	0	1	0	0	0	9893	1087	38	1	706	1	MRTO4	1	19585280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814	19585280	229665341	252	10569											
AKR7L	246181	broad.mit.edu	37	chr1	19600445	19600445	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaaggccgtgtctatctCggtgtggccgcgctccagga	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19600445C>T	ENST00000429712.1	-	0	243				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTGTCTATCTCGGTGTGGCCG	0.701																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							32	35	34					1																	19600445		690	1591	2281			246181							g.chr1:19600445C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600445C>T						AKR7L_ENST00000429712.1_RNA								0	123	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	15.55	2.866840	0.51588	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.15	3.15	0.36227	NADP-dependent oxidoreductase domain (3);	0.454501	0.21675	N	0.070814	T	0.50735	0.1633	.	.	.	0.21579	N	0.999631	P;D	0.60160	0.924;0.987	P;P	0.57152	0.622;0.814	T	0.35076	-0.9803	7	.	.	.	.	10.4071	0.44266	0.0:0.7984:0.2015:0.0	.	42;42	F8W7D9;Q8NHP1	.;ARK74_HUMAN	K	42	.	.	E	-	1	0	AKR7L	19473032	0.453000	0.25721	0.458000	0.27068	0.320000	0.28249	2.894000	0.48640	1.772000	0.52199	0.195000	0.17529	GAG		0.701	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		19	55	0	0	0	1	0	19	55					T	19600445	C	T	19600445	1	4	79	0	1	0	0	0	0	0	0	0	477	893	31	1		1	AKR7L	1	19600445	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15165	19600445	229650176	253	10570											
AKR7A3	22977	broad.mit.edu	37	chr1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagtaaccaaatgccagGcttgattaaaggcgtccacg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557																																						ENST00000361640.4																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(952-954)gCc>gTc		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							47	48	47					1																	19609268		2199	4300	6499	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19609268G>A	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.953C>T	1.37:g.19609268G>A	ENSP00000355377:p.Ala318Val						p.A318V	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1493	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	318					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.953C>T	CCDS193.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307444	0.40795	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	1.52	0.23074	NADP-dependent oxidoreductase domain (3);	0.108969	0.64402	D	0.000006	T	0.39436	0.1078	L	0.59967	1.855	0.49299	D	0.999775	D	0.69078	0.997	D	0.63113	0.911	T	0.04360	-1.0957	10	0.40728	T	0.16	.	10.741	0.46154	0.0:0.3737:0.6263:0.0	.	318	O95154	ARK73_HUMAN	V	318	ENSP00000355377:A318V	ENSP00000355377:A318V	A	-	2	0	AKR7A3	19481855	1.000000	0.71417	0.496000	0.27539	0.014000	0.08584	4.990000	0.63876	0.007000	0.14760	0.205000	0.17691	GCC		0.557	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		13	259	0	0	0	1	0	13	259					A	19609268	G	A	19609268	3	1	79	1	0	0	0	0	1	0	0	0	476	1203	42	2	46	2	AKR7A3	1	19609268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8823	19609268	229641353	254	10571											
AKR7A2	8574	broad.mit.edu	37	chr1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccccggctcaccgattcCtgtaggtctcagcccagcta	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	261					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(781-783)aGg>aTg		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							84	91	88					1																	19633502		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19633502C>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.782G>T	1.37:g.19633502C>A	ENSP00000235835:p.Arg261Met						p.R261M	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	803	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	261					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.782G>T	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275329	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04234	3.67;3.67	5.17	4.2	0.49525	NADP-dependent oxidoreductase domain (3);	0.048149	0.85682	D	0.000000	T	0.11537	0.0281	M	0.74881	2.28	0.46678	D	0.999159	B	0.28128	0.201	B	0.37387	0.248	T	0.02320	-1.1177	10	0.62326	D	0.03	.	14.3693	0.66828	0.1478:0.8522:0.0:0.0	.	261	O43488	ARK72_HUMAN	M	261;216	ENSP00000235835:R261M;ENSP00000339084:R216M	ENSP00000235835:R261M	R	-	2	0	AKR7A2	19506089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.553000	0.86117	0.655000	0.94253	AGG		0.582	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		68	523	1	0	1.64915e-30	1	1.93527e-30	68	523					A	19633502	C	A	19633502	3	1	79	1	0	0	0	0	1	0	0	0	475	681	24	3	309	3	AKR7A2	1	19633502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24234	19633502	229617119	255	10572											
HTR6	3362	broad.mit.edu	37	chr1	19992447	19992447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacttcttcctggtgtcGctcttcacgtctgacctgat	7	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					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)			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)	TCCTGGTGTCGCTCTTCACGT	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(199-201)tcG>tcA		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29	30	29					1																	19992447		2203	4297	6500	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992447G>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.201G>A	1.37:g.19992447G>A							p.S67S	NM_000871.1	NP_000862.1	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)	1	668	+		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)	67					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.201G>A	CCDS197.1																																																																																				0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		23	192	0	0	0	1	0	23	192					A	19992447	G	A	19992447	2	1	79	1	0	0	0	0	0	0	0	1	7481	1074	38	1		1	HTR6	1	19992447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358945	19992447	229258174	256	10573											
TMCO4	255104	broad.mit.edu	37	chr1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggatatgggaccctggGtttgcccaacctggtggggg	16	11	0	0	rs144713907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	562						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16479	0.001		0.0	False		,,,				2504	0.0					ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1684-1686)aCc>aTc		transmembrane and coiled-coil domains 4							60	65	63					1																	20009753		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009753G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1685C>T	1.37:g.20009753G>A	ENSP00000294543:p.Thr562Ile					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I	p.T562I	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1926	-		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)	562					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1685C>T	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.15	1.553797	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	-0.938	0.10412	.	1.360170	0.05067	N	0.480974	T	0.17662	0.0424	L	0.27053	0.805	0.09310	N	1	P;B	0.36438	0.553;0.002	B;B	0.33042	0.157;0.005	T	0.12041	-1.0563	10	0.40728	T	0.16	-13.7287	1.5066	0.02487	0.1655:0.1313:0.3009:0.4022	.	562;522	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	I	562;522	ENSP00000294543:T562I;ENSP00000364264:T522I	ENSP00000294543:T562I	T	-	2	0	TMCO4	19882340	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.220000	0.09215	-0.415000	0.07484	-0.140000	0.14226	ACC		0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		100	354	0	0	0	1	0	100	354					A	20009753	G	A	20009753	3	1	79	1	0	0	0	0	1	0	0	0	16050	1261	44	2	223	2	TMCO4	1	20009753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17306	20009753	229240868	257	10574											
TMCO4	255104	broad.mit.edu	37	chr1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaatcaaggtgacagGtcgtcgcccctgaagggaaa	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	397						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1189-1191)Cct>Act		transmembrane and coiled-coil domains 4							93	88	90					1																	20063940		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20063940G>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1189C>A	1.37:g.20063940G>T	ENSP00000294543:p.Pro397Thr					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T	p.P397T	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	13	1430	-		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)	397					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1189C>A	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.61040	0.14;0.14;0.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-10.5998	16.9883	0.86346	0.0:0.0:1.0:0.0	.	397	Q5TGY1	TMCO4_HUMAN	T	397;397;357	ENSP00000294543:P397T;ENSP00000364269:P397T;ENSP00000364264:P357T	ENSP00000294543:P397T	P	-	1	0	TMCO4	19936527	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.868000	0.92320	2.689000	0.91719	0.655000	0.94253	CCT		0.517	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		70	323	1	0	1.42676e-28	1	1.66098e-28	70	323					T	20063940	G	T	20063940	3	4	79	1	0	0	0	0	1	0	0	0	16050	1261	44	3	731	3	TMCO4	1	20063940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54187	20063940	229186681	258	10575											
OTUD3	23252	broad.mit.edu	37	chr1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatgataaagcagcgggaaGattttgaaccctttgtagaa	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	109	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGAAGATTTTGAACC	0.438																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(325-327)Gat>Tat		OTU domain containing 3							211	203	205					1																	20216981		1979	4165	6144	SO:0001583	missense	23252							g.chr1:20216981G>T	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.325G>T	1.37:g.20216981G>T	ENSP00000364261:p.Asp109Tyr					OTUD3_ENST00000466697.1_3'UTR	p.D109Y	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	326	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	109			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.325G>T	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943063	0.53079	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.23	4.32	0.51571	Ovarian tumour, otubain (2);	0.045448	0.85682	D	0.000000	T	0.33818	0.0876	L	0.53671	1.685	0.58432	D	0.999999	B	0.22604	0.072	B	0.26517	0.07	T	0.12811	-1.0533	10	0.02654	T	1	.	11.2403	0.48966	0.0867:0.0:0.9133:0.0	.	109	Q5T2D3	OTUD3_HUMAN	Y	109	ENSP00000364261:D109Y	ENSP00000364261:D109Y	D	+	1	0	OTUD3	20089568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.894000	0.92506	1.348000	0.45733	0.536000	0.68110	GAT		0.438	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			152	522	1	0	3.7336e-74	1	4.75615e-74	152	522					T	20216981	G	T	20216981	3	4	79	1	0	0	0	0	1	0	0	0	11355	942	33	3	331	3	OTUD3	1	20216981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153041	20216981	229033640	259	10576											
PLA2G2E	30814	broad.mit.edu	37	chr1	20248849	20248849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagtttgggctcacaGcccagcttctccagacgccc	8	16	2	1	rs370199149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	76					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	TGGGCTCACAGCCCAGCTTCT	0.587																																						ENST00000375116.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(226-228)ggC>ggA		phospholipase A2, group IIE							57	57	57					1																	20248849		2203	4300	6503	SO:0001819	synonymous_variant	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20248849G>T	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.228C>A	1.37:g.20248849G>T							p.G76G	NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	285	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	76					Q5VXJ8	Silent	SNP	ENST00000375116.3	37	c.228C>A	CCDS200.1																																																																																				0.587	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589		16	164	1	0	3.51602e-12	1	3.76992e-12	16	164					T	20248849	G	T	20248849	2	4	79	1	0	0	0	0	0	0	0	1	12040	958	34	3		3	PLA2G2E	1	20248849	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31868	20248849	229001772	260	10577											
PLA2G2D	26279	broad.mit.edu	37	chr1	20442831	20442831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaaggagttaccagtcCgtggcatctttgggttggcc	14	8	1	1	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	ENST00000375105.3	-	2	238	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	60					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522										Multiple Myeloma(11;0.12)			C|||	17	0.00339457	0.0008	0.0	5008	,	,		19117	0.0		0.0119	False		,,,				2504	0.0041				Melanoma(60;742 1548 31762 39240)	ENST00000375105.3																			0				endometrium(1)|lung(2)	3						c.(178-180)acG>acA		phospholipase A2, group IID		C		10,4396	15.5+/-35.6	0,10,2193	150	131	138		180	-10.7	0.1	1	dbSNP_134	138	89,8511	50.6+/-110.7	0,89,4211	no	coding-synonymous	PLA2G2D	NM_012400.2		0,99,6404	TT,TC,CC		1.0349,0.227,0.7612		60/146	20442831	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20442831C>T	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.180G>A	1.37:g.20442831C>T		Multiple Myeloma(11;0.12)					p.T60T	NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	238	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	60					A8K2Z1|B1AEL9|Q9UK01	Silent	SNP	ENST00000375105.3	37	c.180G>A	CCDS203.1																																																																																				0.522	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			32	270	0	0	0	1	0	32	270					T	20442831	C	T	20442831	2	4	79	1	0	0	0	0	0	0	0	1	12039	639	23	1		1	PLA2G2D	1	20442831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193982	20442831	228807790	261	10578											
UBXN10	127733	broad.mit.edu	37	chr1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgagcttgtgccgtggagagGaaattcatcgtccgaaccaa	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(514-516)agG>agT		UBX domain protein 10							73	76	75					1																	20517570		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517570G>T	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.516G>T	1.37:g.20517570G>T	ENSP00000364240:p.Arg172Ser						p.R172S	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	600	+			172					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.516G>T	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168388	0.09339	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	2.67	0.31697	.	0.973186	0.08458	N	0.942867	T	0.40119	0.1104	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27365	-1.0076	9	0.18276	T	0.48	-4.3621	10.3827	0.44121	0.0872:0.1469:0.766:0.0	.	172	Q96LJ8	UBX10_HUMAN	S	172	.	ENSP00000364240:R172S	R	+	3	2	UBXN10	20390157	0.867000	0.29959	0.099000	0.21106	0.066000	0.16364	2.421000	0.44688	1.168000	0.42723	0.591000	0.81541	AGG		0.522	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		31	288	1	0	3.80469e-20	1	4.25708e-20	31	288					T	20517570	G	T	20517570	3	4	79	1	0	0	0	0	1	0	0	0	16966	1165	41	3	518	3	UBXN10	1	20517570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74739	20517570	228733051	262	10579											
DDOST	1650	broad.mit.edu	37	chr1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagattgtcatagaggaattCcccatactttatgagagaca	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|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;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(271-273)Gaa>Taa		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							70	69	70					1																	20987419		2203	4300	6503	SO:0001587	stop_gained	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20987419C>A	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.271G>T	1.37:g.20987419C>A	ENSP00000364188:p.Glu91*					DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000477229.1_5'UTR	p.E91*	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	376	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	91					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Nonsense_Mutation	SNP	ENST00000375048.3	37	c.271G>T	CCDS212.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559908	0.97663	.	.	ENSG00000244038	ENST00000375048	.	.	.	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-34.5713	18.9259	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000364188:E91X	E	-	1	0	DDOST	20860006	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.056000	0.71111	2.547000	0.85894	0.655000	0.94253	GAA		0.512	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		16	187	1	0	0.000566183	1	0.000573471	16	187					A	20987419	C	A	20987419	4	1	79	1	0	0	0	0	0	1	0	0	4346	864	30	3	1139	3	DDOST	1	20987419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469849	20987419	228263202	263	10580											
KIF17	57576	broad.mit.edu	37	chr1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatactgaaaagcaggcGggtactcagcgctgctggca	12	11	2	1	rs534971002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	487					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAAAGCAGGCGGGTACTCAGC	0.547													g|||	1	0.000199681	0.0	0.0	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.001					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1459-1461)cCg>cTg		kinesin family member 17							78	72	74					1																	21014359		2203	4298	6501	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014359G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1460C>T	1.37:g.21014359G>A	ENSP00000247986:p.Pro487Leu					KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L|KIF17_ENST00000490034.1_Intron	p.P487L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1770	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	487					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1460C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446381	0.12223	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.69806	-0.43;-0.32;-0.33	4.93	-0.286	0.12862	.	1.577840	0.04772	U	0.428171	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.21540	T	0.41	.	4.1203	0.10103	0.3776:0.1698:0.4526:0.0	.	487;487	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	387;487;487	ENSP00000364184:P387L;ENSP00000383311:P487L;ENSP00000247986:P487L	ENSP00000247986:P487L	P	-	2	0	KIF17	20886946	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.213000	0.17521	0.290000	0.22444	0.491000	0.48974	CCG		0.547	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	406	0	0	0	1	0	14	406					A	21014359	G	A	21014359	3	1	79	1	0	0	0	0	1	0	0	0	8309	1116	39	1	1661	1	KIF17	1	21014359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26940	21014359	228236262	264	10581											
KIF17	57576	broad.mit.edu	37	chr1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgagtcctgcagcagcCgcgtcagcttcgagtcacgg	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCAGCAGCCGCGTCAGCTT	0.627																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(880-882)cGg>cAg		kinesin family member 17							94	83	86					1																	21031182		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031182C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.881G>A	1.37:g.21031182C>T	ENSP00000247986:p.Arg294Gln					KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q	p.R294Q			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1191	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	294					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.881G>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010521	0.93346	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77098	-1.07;-1.07;-1.07	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.29638	U	0.011585	D	0.87657	0.6232	M	0.82923	2.615	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.88744	0.3245	10	0.87932	D	0	.	11.3633	0.49657	0.0:0.9066:0.0:0.0934	.	294;294	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	194;294;294	ENSP00000364184:R194Q;ENSP00000383311:R294Q;ENSP00000247986:R294Q	ENSP00000247986:R294Q	R	-	2	0	KIF17	20903769	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.925000	0.63425	2.554000	0.86153	0.462000	0.41574	CGG		0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		48	412	0	0	0	1	0	48	412					T	21031182	C	T	21031182	3	4	79	1	0	0	0	0	1	0	0	0	8309	652	23	1	2252	1	KIF17	1	21031182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16823	21031182	228219439	265	10582											
KIF17	57576	broad.mit.edu	37	chr1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgctcgaaggccctgGggatgatgcctctctgggag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	115	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAAGGCCCTGGGGATGATGCC	0.652																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(343-345)cCc>cTc		kinesin family member 17							86	76	79					1																	21042020		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042020G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.344C>T	1.37:g.21042020G>A	ENSP00000247986:p.Pro115Leu					KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L	p.P115L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	654	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	115			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.344C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142515	0.94560	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.32401	U	0.006150	D	0.89234	0.6657	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91885	0.5519	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	115;115	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	15;115;115	ENSP00000364184:P15L;ENSP00000383311:P115L;ENSP00000247986:P115L	ENSP00000247986:P115L	P	-	2	0	KIF17	20914607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.991000	0.93514	2.473000	0.83533	0.655000	0.94253	CCC		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		50	401	0	0	0	1	0	50	401					A	21042020	G	A	21042020	3	1	79	1	0	0	0	0	1	0	0	0	8309	1232	43	2	2801	2	KIF17	1	21042020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10838	21042020	228208601	266	10583											
EIF4G3	8672	broad.mit.edu	37	chr1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtgaagaatgccgtgacaGatttcagagccacgcccttc	10	12	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000264211.8	-	31	4894	c.4700C>T	c.(4699-4701)tCt>tTt	p.S1567F	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S1573F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1567	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCCGTGACAGATTTCAGAGC	0.463																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4717-4719)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							197	196	196					1																	21133870		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21133870G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4700C>T	1.37:g.21133870G>A	ENSP00000264211:p.Ser1567Phe					EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S1567F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F	p.S1573F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	35	5301	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1567			EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4718C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505352	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.996;0.999;1.0	D	0.93073	0.6484	10	0.87932	D	0	-15.8192	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1762;1287;1171;1573;1567	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	1567;1763;1567;1287;1057;1573;1171	ENSP00000264211:S1567F;ENSP00000383274:S1567F;ENSP00000364071:S1287F;ENSP00000442010:S1057F;ENSP00000364073:S1573F;ENSP00000444693:S1171F	ENSP00000264211:S1567F	S	-	2	0	EIF4G3	21006457	1.000000	0.71417	0.860000	0.33809	0.995000	0.86356	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	TCT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		196	780	0	0	0	1	0	196	780					A	21133870	G	A	21133870	3	1	79	1	0	0	0	0	1	0	0	0	5056	942	33	2	61	2	EIF4G3	1	21133870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91850	21133870	228116751	267	10584											
EIF4G3	8672	broad.mit.edu	37	chr1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgtgaggaggagaagCtggaggagttggaggagttg	22	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000264211.8	-	8	1461	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A429T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	423					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ggaggagaagctggaggagtt	0.527																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1285-1287)Gct>Act		eukaryotic translation initiation factor 4 gamma, 3							103	98	100					1																	21268212		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268212C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1267G>A	1.37:g.21268212C>T	ENSP00000264211:p.Ala423Thr					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A423T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T	p.A429T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1868	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	423					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1285G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248320	0.10130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.62	2.7	0.31948	.	0.540393	0.20858	N	0.084418	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999989	B;B;B;B;B;B	0.12013	0.005;0.003;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.005;0.004;0.003;0.001;0.001	T	0.33879	-0.9851	10	0.24483	T	0.36	-1.3839	8.2271	0.31575	0.0:0.6398:0.1419:0.2183	.	423;618;549;27;429;423	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	T	423;619;423;429;27;549;423;434	ENSP00000264211:A423T;ENSP00000383274:A423T;ENSP00000364073:A429T;ENSP00000444693:A27T;ENSP00000364062:A423T	ENSP00000264211:A423T	A	-	1	0	EIF4G3	21140799	0.105000	0.21958	0.808000	0.32385	0.663000	0.39108	0.121000	0.15667	0.045000	0.15804	-0.797000	0.03246	GCT		0.527	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		59	413	0	0	0	1	0	59	413					T	21268212	C	T	21268212	3	4	79	1	0	0	0	0	1	0	0	0	5056	797	28	2	3586	2	EIF4G3	1	21268212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134342	21268212	227982409	268	10585											
EIF4G3	8672	broad.mit.edu	37	chr1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccagtggaatatcatTaggtgctacactacagggtt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000264211.8	-	8	1227	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D	EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N351D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	345					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGAATATCATTAGGTGCTACA	0.368																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1051-1053)Aat>Gat		eukaryotic translation initiation factor 4 gamma, 3							163	160	161					1																	21268446		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268446T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1033A>G	1.37:g.21268446T>C	ENSP00000264211:p.Asn345Asp					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.N345D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D	p.N351D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1634	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	345					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1051A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	7.730	0.699011	0.15106	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	6.17	5.03	0.67393	.	0.349556	0.32578	N	0.005906	T	0.10208	0.0250	N	0.14661	0.345	0.22541	N	0.99901	B;B;B;B;B	0.32467	0.185;0.167;0.372;0.023;0.094	B;B;B;B;B	0.30316	0.049;0.016;0.114;0.01;0.01	T	0.29305	-1.0016	10	0.13470	T	0.59	-2.3801	7.646	0.28321	0.0:0.073:0.3841:0.5429	.	345;540;471;351;345	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	345;541;345;351;471;345;356	ENSP00000264211:N345D;ENSP00000383274:N345D;ENSP00000364073:N351D;ENSP00000364062:N345D	ENSP00000264211:N345D	N	-	1	0	EIF4G3	21141033	0.477000	0.25909	1.000000	0.80357	0.982000	0.71751	0.318000	0.19504	1.134000	0.42165	0.533000	0.62120	AAT		0.368	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		95	812	0	0	0	1	0	95	812					C	21268446	T	C	21268446	3	2	79	1	0	0	0	0	1	0	0	0	5056	1754	61	4	3820	4	EIF4G3	1	21268446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	21268446	227982175	269	10586											
EIF4G3	8672	broad.mit.edu	37	chr1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caattgtacttcgagcaacaGaagaaacagtggtaggtgat	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000264211.8	-	8	1012	c.818C>T	c.(817-819)tCt>tTt	p.S273F	EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S279F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	273					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGAGCAACAGAAGAAACAGT	0.463																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(835-837)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							137	126	130					1																	21268661		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268661G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.818C>T	1.37:g.21268661G>A	ENSP00000264211:p.Ser273Phe					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S273F|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F	p.S279F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1419	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	273					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.836C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025039	0.35701	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.96	5.96	0.96718	.	0.226323	0.46442	D	0.000299	T	0.13841	0.0335	N	0.08118	0	0.26073	N	0.981196	P;P;P;B;B	0.48016	0.824;0.608;0.904;0.004;0.162	B;B;P;B;B	0.44811	0.419;0.078;0.461;0.001;0.203	T	0.12066	-1.0562	10	0.59425	D	0.04	-2.8518	11.2797	0.49186	0.0822:0.0:0.9178:0.0	.	273;468;399;279;273	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	273;469;273;279;399;273;284	ENSP00000264211:S273F;ENSP00000383274:S273F;ENSP00000364073:S279F;ENSP00000364062:S273F	ENSP00000264211:S273F	S	-	2	0	EIF4G3	21141248	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	4.328000	0.59253	2.832000	0.97577	0.655000	0.94253	TCT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		50	491	0	0	0	1	0	50	491					A	21268661	G	A	21268661	3	1	79	1	0	0	0	0	1	0	0	0	5056	942	33	2	4035	2	EIF4G3	1	21268661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	21268661	227981960	270	10587											
EIF4G3	8672	broad.mit.edu	37	chr1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgggtacggcatgggcaGatggttaaccatcatgatgt	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000264211.8	-	3	354	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L61M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517																																						ENST00000602326.1																			2	Substitution - coding silent(2)	p.L54L(1)|p.L61L(1)	urinary_tract(2)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(181-183)Ctg>Atg		eukaryotic translation initiation factor 4 gamma, 3							128	107	114					1																	21307591		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21307591G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.160C>A	1.37:g.21307591G>T	ENSP00000264211:p.Leu54Met					EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L54M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M	p.L61M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	7	764	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	54					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.181C>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551763	0.65311	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.83	4.92	0.64577	.	0.163224	0.41938	D	0.000784	T	0.40347	0.1113	L	0.36672	1.1	0.46542	D	0.999097	D;D;D;D;D;D	0.89917	1.0;0.999;0.978;1.0;0.999;0.998	D;D;P;D;D;D	0.91635	0.999;0.997;0.758;0.998;0.997;0.915	T	0.11131	-1.0600	10	0.33141	T	0.24	-7.9326	14.8028	0.69929	0.0693:0.0:0.9307:0.0	.	54;250;54;180;61;54	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	54;251;54;54;61;180;54;65;54;92	ENSP00000264211:L54M;ENSP00000383274:L54M;ENSP00000364071:L54M;ENSP00000364073:L61M;ENSP00000364062:L54M;ENSP00000395381:L54M;ENSP00000396083:L92M	ENSP00000264211:L54M	L	-	1	2	EIF4G3	21180178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.480000	0.60243	1.464000	0.47987	0.555000	0.69702	CTG		0.517	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		14	356	1	0	7.93312e-07	1	8.20014e-07	14	356					T	21307591	G	T	21307591	3	4	79	1	0	0	0	0	1	0	0	0	5056	933	33	3	4713	3	EIF4G3	1	21307591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38930	21307591	227943030	271	10588											
ECE1	1889	broad.mit.edu	37	chr1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgagtcagctcatggcCcacgacgacacctatgccac	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000374893.6	-	16	1890	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_ENST00000415912.2_Missense_Mutation_p.G590S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	606					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTCATGGCCCACGACGACA	0.507																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1768-1770)Ggc>Agc		endothelin converting enzyme 1							156	126	136					1																	21553685		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21553685C>T	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1816G>A	1.37:g.21553685C>T	ENSP00000364028:p.Gly606Ser					ECE1_ENST00000374893.6_Missense_Mutation_p.G606S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S	p.G590S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	16	1893	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	606					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1768G>A	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427961	0.96131	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.15	5.15	0.70609	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.999;0.991;0.995	D	0.96328	0.9241	10	0.87932	D	0	-35.2293	17.5678	0.87924	0.0:1.0:0.0:0.0	.	606;590;606;594;603	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	590;594;606;606;603	ENSP00000405088:G590S;ENSP00000349581:G594S;ENSP00000364028:G606S;ENSP00000388439:G606S;ENSP00000264205:G603S	ENSP00000264205:G603S	G	-	1	0	ECE1	21426272	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.412000	0.80091	2.556000	0.86216	0.555000	0.69702	GGC		0.507	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		20	286	0	0	0	1	0	20	286					T	21553685	C	T	21553685	3	4	79	1	0	0	0	0	1	0	0	0	4905	623	22	2	512	2	ECE1	1	21553685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246094	21553685	227696936	272	10589											
ECE1	1889	broad.mit.edu	37	chr1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaggtgcggtagtgggCggtgaccacctgcagggtgt	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000374893.6	-	6	759	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_ENST00000415912.2_Missense_Mutation_p.A213T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000528294.1_5'Flank	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	229					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(637-639)Gcc>Acc		endothelin converting enzyme 1							191	148	163					1																	21585263		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21585263C>T	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.685G>A	1.37:g.21585263C>T	ENSP00000364028:p.Ala229Thr					ECE1_ENST00000374893.6_Missense_Mutation_p.A229T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T	p.A213T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	6	762	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	229					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.637G>A	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886033	0.51908	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.1	3.15	0.36227	Peptidase M13 (1);	0.157018	0.56097	N	0.000028	T	0.65770	0.2723	L	0.50333	1.59	0.53688	D	0.999975	B;B;B;B;B	0.22146	0.031;0.065;0.033;0.015;0.053	B;B;B;B;B	0.21151	0.022;0.02;0.033;0.012;0.019	T	0.60762	-0.7199	10	0.59425	D	0.04	-26.2798	8.0527	0.30587	0.1784:0.7349:0.0:0.0867	.	229;213;229;217;226	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	T	213;217;229;229;226	ENSP00000405088:A213T;ENSP00000349581:A217T;ENSP00000364028:A229T;ENSP00000388439:A229T;ENSP00000264205:A226T	ENSP00000264205:A226T	A	-	1	0	ECE1	21457850	0.994000	0.37717	0.627000	0.29227	0.757000	0.42996	3.234000	0.51320	0.472000	0.27344	0.591000	0.81541	GCC		0.597	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		27	268	0	0	0	1	0	27	268					T	21585263	C	T	21585263	3	4	79	1	0	0	0	0	1	0	0	0	4905	768	27	1	1683	1	ECE1	1	21585263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31578	21585263	227665358	273	10590											
NBPF3	84224	broad.mit.edu	37	chr1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgacatcaagagctgCgagatccaacaggtaaaaat	11	9	1	2	rs371433372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000318249.5	+	2	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	41						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537																																						ENST00000318249.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(121-123)Cga>Tga		neuroblastoma breakpoint family, member 3		C	stop/ARG	0,4406		0,0,2203	41	42	42		121	0.7	0	1		42	1,8599		0,1,4299	no	stop-gained	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		41/634	21771700	1,13005	2203	4300	6503	SO:0001587	stop_gained	84224					cytoplasm		g.chr1:21771700C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.121C>T	1.37:g.21771700C>T	ENSP00000316782:p.Arg41*					NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR	p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	471	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	41					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Nonsense_Mutation	SNP	ENST00000318249.5	37	c.121C>T	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	33	5.226067	0.95173	0.0	1.16E-4	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	.	.	.	0.717	0.717	0.18196	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8957	0.13749	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000316782:R41X	R	+	1	2	NBPF3	21644287	0.029000	0.19370	0.008000	0.14137	0.311000	0.27955	0.522000	0.22909	0.712000	0.32039	0.271000	0.19318	CGA		0.537	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		13	197	0	0	0	1	0	13	197					T	21771700	C	T	21771700	4	4	79	1	0	0	0	0	0	1	0	0	10239	760	27	1	123	1	NBPF3	1	21771700	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186437	21771700	227478921	274	10591											
NBPF3	84224	broad.mit.edu	37	chr1	21797189	21797189	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcggctgctcacagaagaGaagcttgcagaggagctcgg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318249.5	+	4	758	c.408G>A	c.(406-408)gaG>gaA	p.E136E	NBPF3_ENST00000318220.6_Silent_p.E80E|NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000454000.2_Silent_p.E66E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	136						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(238-240)gaG>gaA		neuroblastoma breakpoint family, member 3							46	51	49					1																	21797189		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21797189G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.408G>A	1.37:g.21797189G>A						NBPF3_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000318249.5_Silent_p.E136E	p.E80E			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	7	1288	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	136					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.240G>A	CCDS216.1																																																																																				0.542	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		39	385	0	0	0	1	0	39	385					A	21797189	G	A	21797189	2	1	79	1	0	0	0	0	0	0	0	1	10239	933	33	2		2	NBPF3	1	21797189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25489	21797189	227453432	275	10592											
ALPL	249	broad.mit.edu	37	chr1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaccgtgggggtaagcGcagccactgagcgttcccgg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	132			A -> V (in HOPS). {ECO:0000269|PubMed:11834095}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGGGGTAAGCGCAGCCACTGA	0.667																																						ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26	GRCh37	CM068249	ALPL	M		c.(394-396)Gca>Aca		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						80	72	75					1																	21889699		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889699G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.394G>A	1.37:g.21889699G>A	ENSP00000363973:p.Ala132Thr					ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T	p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	644	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	132		A -> V (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.394G>A	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240773	0.95240	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.050790	0.85682	D	0.000000	D	0.97405	0.9151	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.977;0.995	D	0.97812	1.0251	10	0.59425	D	0.04	-20.2969	15.8954	0.79329	0.0:0.0:1.0:0.0	.	55;80;132	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	55;77;132;132;132	ENSP00000437674:A55T;ENSP00000442672:A77T;ENSP00000363973:A132T;ENSP00000363965:A132T;ENSP00000394765:A132T	ENSP00000363965:A132T	A	+	1	0	ALPL	21762286	1.000000	0.71417	0.956000	0.39512	0.837000	0.47467	9.383000	0.97214	2.320000	0.78422	0.655000	0.94253	GCA		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		42	361	0	0	0	1	0	42	361					A	21889699	G	A	21889699	3	1	79	1	0	0	0	0	1	0	0	0	547	1087	38	1	408	1	ALPL	1	21889699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92510	21889699	227360922	276	10593											
ALPL	249	broad.mit.edu	37	chr1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccagggctgtaaggAcatcgcctaccagctcatgc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	203					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGCTGTAAGGACATCGCCTAC	0.657																																						ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(607-609)gAc>gGc		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						84	75	78					1																	21890669		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21890669A>G	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.608A>G	1.37:g.21890669A>G	ENSP00000363973:p.Asp203Gly					ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G	p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	6	858	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	203					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.608A>G	CCDS217.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958174	0.92726	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;D	0.83275	0.996;0.979;0.955	D	0.99659	1.0993	10	0.72032	D	0.01	-32.7123	14.2145	0.65783	1.0:0.0:0.0:0.0	.	126;151;203	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	G	126;148;203;203;203	ENSP00000437674:D126G;ENSP00000442672:D148G;ENSP00000363973:D203G;ENSP00000363965:D203G;ENSP00000394765:D203G	ENSP00000363965:D203G	D	+	2	0	ALPL	21763256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	2.038000	0.60285	0.459000	0.35465	GAC		0.657	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		9	288	0	0	0	1	0	9	288					G	21890669	A	G	21890669	3	3	79	1	0	0	0	0	1	0	0	0	547	275	10	4	626	4	ALPL	1	21890669	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	970	21890669	227359952	277	10594											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928254	21928254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtgagacgtgcccGctgtctggggtcttctgacc	14	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000374765.4	-	20	1775	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	RAP1GAP_ENST00000542643.2_Silent_p.S551S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374761.2_Silent_p.S556S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	525					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACGTGCCCGCTGTCTGGGG	0.667																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1651-1653)agC>agT		RAP1 GTPase activating protein							70	65	67					1																	21928254		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928254G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1575C>T	1.37:g.21928254G>A						RAP1GAP_ENST00000374765.4_Silent_p.S525S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000290101.4_Silent_p.S589S	p.S551S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	22	1955	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	525					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1653C>T	CCDS218.1																																																																																				0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		32	169	0	0	0	1	0	32	169					A	21928254	G	A	21928254	2	1	79	1	0	0	0	0	0	0	0	1	13087	1078	38	1		1	RAP1GAP	1	21928254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37585	21928254	227322367	278	10595											
RAP1GAP	5909	broad.mit.edu	37	chr1	21936611	21936611	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctccaagagcgcccAccttgtagagggggccatca	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000374765.4	-	14	1200		c.e14+1		RAP1GAP_ENST00000542643.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374757.3_5'Flank	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGAGCGCCCACCTTGTAGAG	0.627																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.e15+1		RAP1 GTPase activating protein							28	27	27					1																	21936611		2203	4300	6503	SO:0001630	splice_region_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936611A>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.999+1T>C	1.37:g.21936611A>G						RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site		NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1302	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Splice_Site	SNP	ENST00000374765.4	37		CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381459	0.61845	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0701	0.64854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAP1GAP	21809198	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.473000	0.81007	2.279000	0.76181	0.459000	0.35465	.		0.627	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	Intron	29	124	0	0	0	1	0	29	124					G	21936611	A	G	21936611	5	3	79	1	0	0	0	0	0	0	1	0	13087	173	6	4	1116	4	RAP1GAP	1	21936611	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8357	21936611	227314010	279	10596											
USP48	84196	broad.mit.edu	37	chr1	22078012	22078012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaataccttcaaaaattcCgagatacaatctgttaactg	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000400301.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358																																						ENST00000308271.9																			1	Substitution - coding silent(1)	p.S254S(1)	lung(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(760-762)tcG>tcT		ubiquitin specific peptidase 48							110	115	113					1																	22078012		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22078012C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.762G>T	1.37:g.22078012C>A						USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	6	1410	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	254					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.762G>T	CCDS30623.1																																																																																				0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		8	432	1	0	0.00307968	1	0.00310409	8	432					A	22078012	C	A	22078012	2	1	79	1	0	0	0	0	0	0	0	1	17133	639	23	3		3	USP48	1	22078012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141401	22078012	227172609	280	10597											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140902	22140902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgcagccgacctggcgGaactgtgcgggcagacgtgg	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140902G>A	ENST00000344642.2	+	2	284	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	33						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGACCTGGCGGAACTGTGCGG	0.692																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(97-99)Gaa>Aaa		low density lipoprotein receptor class A domain containing 2							9	11	10					1																	22140902		2069	4121	6190	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140902G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.97G>A	1.37:g.22140902G>A	ENSP00000340988:p.Glu33Lys					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	284	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	33					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.97G>A	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982013	0.53827	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.47869	0.83;0.83	4.28	1.21	0.21127	.	0.392379	0.20423	N	0.092625	T	0.24314	0.0589	N	0.08118	0	0.29724	N	0.838387	B	0.06786	0.001	B	0.09377	0.004	T	0.12502	-1.0545	10	0.56958	D	0.05	-1.406	7.3921	0.26915	0.0969:0.3537:0.5494:0.0	.	33	Q5SZI1	LRAD2_HUMAN	K	33	ENSP00000340988:E33K;ENSP00000444097:E33K	ENSP00000340988:E33K	E	+	1	0	LDLRAD2	22013489	1.000000	0.71417	0.948000	0.38648	0.523000	0.34469	2.647000	0.46639	0.075000	0.16796	0.297000	0.19635	GAA		0.692	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		6	113	0	0	0	1	0	6	113					A	22140902	G	A	22140902	3	1	79	1	0	0	0	0	1	0	0	0	8737	1175	41	2	103	2	LDLRAD2	1	22140902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62890	22140902	227109719	281	10598											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140961	22140961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctcgcacgccgcatcGcgcaggttctacttcgtggc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	52						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACGCCGCATCGCGCAGGTTCT	0.706																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(154-156)tcG>tcA		low density lipoprotein receptor class A domain containing 2							17	21	20					1																	22140961		2189	4283	6472	SO:0001819	synonymous_variant	401944					integral to membrane	receptor activity	g.chr1:22140961G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.156G>A	1.37:g.22140961G>A						LDLRAD2_ENST00000543870.1_Silent_p.S52S	p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	343	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	52					B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	c.156G>A	CCDS30624.1																																																																																				0.706	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		59	183	0	0	0	1	0	59	183					A	22140961	G	A	22140961	2	1	79	1	0	0	0	0	0	0	0	1	8737	1074	38	1		1	LDLRAD2	1	22140961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	22140961	227109660	282	10599											
HSPG2	3339	broad.mit.edu	37	chr1	22162127	22162127	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagctctggtccaagttctgGattctataaagaaaaaataa	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				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)			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)	CCAAGTTCTGGATTCTATAAA	0.502																																						ENST00000374695.3																			0				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						c.(10357-10359)atC>atA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						36	35	35					1																	22162127		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.chr1:22162127G>T	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.10359C>A	1.37:g.22162127G>T							p.I3453I	NM_005529.5	NP_005520.4	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)	76	10438	-		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)	3453			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10359C>A	CCDS30625.1																																																																																				0.502	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	141	1	0	3.07112e-06	1	3.16074e-06	12	141					T	22162127	G	T	22162127	2	4	79	1	0	0	0	0	0	0	0	1	7460	1164	41	3		3	HSPG2	1	22162127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21166	22162127	227088494	283	10600											
HSPG2	3339	broad.mit.edu	37	chr1	22222460	22222460	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccccactgcccaggtcgtCtataagcaaaaaagagatgt	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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)			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)	CCCAGGTCGTCTATAAGCAAA	0.552																																						ENST00000374695.3																			0				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						c.e3-1		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						51	51	51					1																	22222460		2203	4300	6503	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22222460C>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.200-1G>T	1.37:g.22222460C>A								NM_005529.5	NP_005520.4	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)	3	279	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37		CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386085	0.11524	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	.	.	.	4.72	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0717	0.42337	0.2007:0.7993:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22095047	1.000000	0.71417	0.944000	0.38274	0.062000	0.15995	3.531000	0.53546	1.192000	0.43071	-0.195000	0.12781	.		0.552	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	32	116	1	0	2.47316e-13	1	2.66891e-13	32	116					A	22222460	C	A	22222460	5	1	79	1	0	0	0	0	0	0	1	0	7460	927	32	3	13356	3	HSPG2	1	22222460	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60333	22222460	227028161	284	10601											
CDC42	998	broad.mit.edu	37	chr1	22417980	22417980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctggagcctccagaaccGaagaagagccgcaggtgtgt	14	12	0	3	rs16826564	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000400259.1_Silent_p.P182P|CDC42_ENST00000421089.2_Silent_p.P224P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	182					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCCAGAACCGAAGAAGAGCC	0.458																																						ENST00000344548.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(544-546)ccG>ccA		cell division cycle 42							55	59	58					1																	22417980		2203	4300	6503	SO:0001819	synonymous_variant	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22417980G>A	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.546G>A	1.37:g.22417980G>A						CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	p.P182P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	7	797	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	182					P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	37	c.546G>A	CCDS221.1																																																																																				0.458	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		30	308	0	0	0	1	0	30	308					A	22417980	G	A	22417980	2	1	79	1	0	0	0	0	0	0	0	1	3080	1045	37	1		1	CDC42	1	22417980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195520	22417980	226832641	285	10602											
WNT4	54361	broad.mit.edu	37	chr1	22447815	22447815	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaaggccacaccgtaggcGatgttgtcagagcatcctga	13	10	1	3	rs199545625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	159					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0					ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(475-477)atC>atT		wingless-type MMTV integration site family, member 4		G		1,4405	2.1+/-5.4	0,1,2202	104	93	97		477	3.4	1	1		97	0,8600		0,0,4300	no	coding-synonymous	WNT4	NM_030761.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		159/352	22447815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447815G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.477C>T	1.37:g.22447815G>A						WNT4_ENST00000542383.1_Silent_p.I104I	p.I159I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	4	520	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	159					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.477C>T	CCDS223.1																																																																																				0.622	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			88	311	0	0	0	1	0	88	311					A	22447815	G	A	22447815	2	1	79	1	0	0	0	0	0	0	0	1	17444	1048	37	1		1	WNT4	1	22447815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29835	22447815	226802806	286	10603											
ZBTB40	9923	broad.mit.edu	37	chr1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaatcagccactttgCcaagcaccacaggtattagt	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000375647.4	+	6	1555	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	450					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCACTTTGCCAAGCACCAC	0.488																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1348-1350)Cca>Tca		zinc finger and BTB domain containing 40							58	65	62					1																	22832722		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22832722C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1348C>T	1.37:g.22832722C>T	ENSP00000364798:p.Pro450Ser					ZBTB40_ENST00000375647.4_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	p.P450S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	7	1859	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	450					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1348C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837604	0.32513	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.06	4.18	0.49190	.	0.114274	0.39615	N	0.001303	T	0.60077	0.2241	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.32653	0.17;0.379	B;B	0.28139	0.082;0.086	T	0.54669	-0.8259	10	0.54805	T	0.06	-8.6573	8.3286	0.32173	0.0:0.7265:0.1308:0.1427	.	338;450	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	450;450;450;338	ENSP00000384527:P450S;ENSP00000364798:P450S;ENSP00000383098:P450S;ENSP00000363782:P338S	ENSP00000363782:P338S	P	+	1	0	ZBTB40	22705309	0.799000	0.28903	0.153000	0.22517	0.711000	0.40976	1.179000	0.31993	0.875000	0.35847	0.655000	0.94253	CCA		0.488	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		28	240	0	0	0	1	0	28	240					T	22832722	C	T	22832722	3	4	79	1	0	0	0	0	1	0	0	0	17595	739	26	2	1366	2	ZBTB40	1	22832722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384907	22832722	226417899	287	10604											
ZBTB40	9923	broad.mit.edu	37	chr1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatcttcagtgccccgtCcatgctggagcggcacgtgg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000375647.4	+	14	3179	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGTGCCCCGTCCATGCTGGAG	0.607																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2971-2973)tCc>tTc		zinc finger and BTB domain containing 40							115	92	100					1																	22846692		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22846692C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2972C>T	1.37:g.22846692C>T	ENSP00000364798:p.Ser991Phe					ZBTB40_ENST00000375647.4_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F	p.S991F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	15	3483	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	991					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.2972C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801189	0.70567	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07567	3.18;3.18;3.18	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000062	T	0.31513	0.0799	M	0.74546	2.27	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.00712	-1.1598	10	0.72032	D	0.01	-20.6777	18.585	0.91185	0.0:1.0:0.0:0.0	.	879;991	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	991;991;879	ENSP00000384527:S991F;ENSP00000364798:S991F;ENSP00000363782:S879F	ENSP00000363782:S879F	S	+	2	0	ZBTB40	22719279	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.684000	0.68197	2.735000	0.93741	0.561000	0.74099	TCC		0.607	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		35	385	0	0	0	1	0	35	385					T	22846692	C	T	22846692	3	4	79	1	0	0	0	0	1	0	0	0	17595	855	30	2	3022	2	ZBTB40	1	22846692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13970	22846692	226403929	288	10605											
EPHA8	2046	broad.mit.edu	37	chr1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtcccctcagcaagcGcggcttctacctggccttcc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	179	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		R -> C (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGCAAGCGCGGCTTCTAC	0.612																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(535-537)cGc>cAc		EPH receptor A8							81	72	75					1																	22903086		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903086G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.536G>A	1.37:g.22903086G>A	ENSP00000166244:p.Arg179His					EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H	p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	608	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	179		R -> C (in a gastric adenocarcinoma sample; somatic mutation).			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.536G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555036	0.65425	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10382	2.88;2.88;2.88	3.93	3.93	0.45458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.27063	0.0663	M	0.66439	2.03	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.00847	-1.1542	10	0.59425	D	0.04	.	8.6547	0.34055	0.1084:0.0:0.8916:0.0	.	179;179	P29322;P29322-2	EPHA8_HUMAN;.	H	179	ENSP00000166244:R179H;ENSP00000363775:R179H;ENSP00000440274:R179H	ENSP00000166244:R179H	R	+	2	0	EPHA8	22775673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.435000	0.52849	2.008000	0.58898	0.442000	0.29010	CGC		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		65	268	0	0	0	1	0	65	268					A	22903086	G	A	22903086	3	1	79	1	0	0	0	0	1	0	0	0	5191	1087	38	1	546	1	EPHA8	1	22903086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56394	22903086	226347535	289	10606											
EPHA8	2046	broad.mit.edu	37	chr1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttctcggaggcagtgAcgggggccgactcgtcctca	14	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A|EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	219	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGCAGTGACGGGGGCCGA	0.637																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(655-657)Acg>Gcg		EPH receptor A8							50	47	48					1																	22903205		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903205A>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.655A>G	1.37:g.22903205A>G	ENSP00000166244:p.Thr219Ala					EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A	p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	727	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	219			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.655A>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940226	0.52972	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.07;5.07	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.33753	1.03	0.49582	D	0.999805	D;P	0.69078	0.997;0.926	D;P	0.75020	0.985;0.839	T	0.71371	-0.4613	10	0.19147	T	0.46	.	11.8592	0.52457	1.0:0.0:0.0:0.0	.	219;219	P29322;P29322-2	EPHA8_HUMAN;.	A	219	ENSP00000166244:T219A;ENSP00000363775:T219A;ENSP00000440274:T219A	ENSP00000166244:T219A	T	+	1	0	EPHA8	22775792	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.957000	0.63652	1.662000	0.50781	0.363000	0.22086	ACG		0.637	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		20	209	0	0	0	1	0	20	209					G	22903205	A	G	22903205	3	3	79	1	0	0	0	0	1	0	0	0	5191	275	10	4	665	4	EPHA8	1	22903205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	22903205	226347416	290	10607											
EPHA8	2046	broad.mit.edu	37	chr1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgccctccccacaGccactccgcagctccagccg	8	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N|EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	297	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCCACAGCCACTCCGCA	0.672																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(889-891)aGc>aAc		EPH receptor A8							41	40	40					1																	22913039		2202	4300	6502	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913039G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.890G>A	1.37:g.22913039G>A	ENSP00000166244:p.Ser297Asn					EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N	p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	962	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	297			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.890G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939549	0.92526	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97430	1.59;-4.38;-4.38	4.35	4.35	0.52113	.	0.053256	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92268	3.29	0.52501	D	0.999958	P;D	0.55800	0.671;0.973	B;P	0.56612	0.107;0.802	D	0.99544	1.0964	10	0.87932	D	0	.	15.6037	0.76646	0.0:0.0:1.0:0.0	.	297;297	P29322;P29322-2	EPHA8_HUMAN;.	N	297	ENSP00000166244:S297N;ENSP00000363775:S297N;ENSP00000440274:S297N	ENSP00000166244:S297N	S	+	2	0	EPHA8	22785626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.587000	0.98229	2.265000	0.75225	0.455000	0.32223	AGC		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		88	243	0	0	0	1	0	88	243					A	22913039	G	A	22913039	3	1	79	1	0	0	0	0	1	0	0	0	5191	971	34	2	904	2	EPHA8	1	22913039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9834	22913039	226337582	291	10608											
EPHA8	2046	broad.mit.edu	37	chr1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggacttcctgagcgagGcgtccatcatggggcaattc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGAGCGAGGCGTCCATCAT	0.662																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2053-2055)Gcg>Acg		EPH receptor A8							88	90	89					1																	22924291		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924291G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2053G>A	1.37:g.22924291G>A	ENSP00000166244:p.Ala685Thr						p.A685T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2125	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	685			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2053G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916304	0.92249	.	.	ENSG00000070886	ENST00000166244	T	0.63913	-0.07	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84792	0.0779	10	0.87932	D	0	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	685	P29322	EPHA8_HUMAN	T	685	ENSP00000166244:A685T	ENSP00000166244:A685T	A	+	1	0	EPHA8	22796878	1.000000	0.71417	0.989000	0.46669	0.675000	0.39556	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	GCG		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		116	455	0	0	0	1	0	116	455					A	22924291	G	A	22924291	3	1	79	1	0	0	0	0	1	0	0	0	5191	1203	42	2	2268	2	EPHA8	1	22924291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11252	22924291	226326330	292	10609											
EPHA8	2046	broad.mit.edu	37	chr1	22927925	22927925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaccacttcgctgcgggCggatactcctctctgggcat	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCTGCGGGCGGATACTCCT	0.706																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2860-2862)ggC>ggT		EPH receptor A8							39	44	42					1																	22927925		2203	4297	6500	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927925C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2862C>T	1.37:g.22927925C>T							p.G954G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2934	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	954			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2862C>T	CCDS225.1																																																																																				0.706	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		87	317	0	0	0	1	0	87	317					T	22927925	C	T	22927925	2	4	79	1	0	0	0	0	0	0	0	1	5191	755	27	1		1	EPHA8	1	22927925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3634	22927925	226322696	293	10610											
C1QA	712	broad.mit.edu	37	chr1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccgagcaccagacgggAagaaaggggaggcaggaaga	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	32	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(94-96)Aag>Tag		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						37	34	35					1																	22964203		2203	4300	6503	SO:0001587	stop_gained	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22964203A>T	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.94A>T	1.37:g.22964203A>T	ENSP00000363773:p.Lys32*					C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	298	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	32			Collagen-like.		B2R4X2|Q5T963	Nonsense_Mutation	SNP	ENST00000374642.3	37	c.94A>T	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.396592|3.396592	0.62177|0.62177	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|.	.|.	.|.	4.88|4.88	0.85|0.85	0.18980|0.18980	.|.	2.869200|.	0.01757|.	N|.	0.030313|.	T|.	0.56587|.	0.1995|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66464|.	-0.5917|.	5|.	0.66056|0.51188	D|T	0.02|0.08	2.406|2.406	10.9783|10.9783	0.47480|0.47480	0.5354:0.4646:0.0:0.0|0.5354:0.4646:0.0:0.0	.|.	.|.	.|.	.|.	V|X	30|32	.|.	ENSP00000341271:E30V|ENSP00000363773:K32X	E|K	+|+	2|1	0|0	C1QA|C1QA	22836790|22836790	0.836000|0.836000	0.29430|0.29430	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	2.501000|2.501000	0.45389|0.45389	0.311000|0.311000	0.23014|0.23014	-0.488000|-0.488000	0.04728|0.04728	GAA|AAG		0.662	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		15	83	0	0	0	1	0	15	83					T	22964203	A	T	22964203	4	4	79	1	0	0	0	0	0	1	0	0	1961	247	9	5	96	5	C1QA	1	22964203	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36278	22964203	226286418	294	10611											
C1QC	714	broad.mit.edu	37	chr1	22973781	22973781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggagaacccggcttaccCggccatcctgggaaaaatgg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973781C>T	ENST00000374639.3	+	3	361	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	81	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P81P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			1	Substitution - coding silent(1)	p.P81P(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(241-243)ccC>ccT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						31	36	34					1																	22973781		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973781C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.243C>T	1.37:g.22973781C>T						C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	361	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	81			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.243C>T	CCDS227.1																																																																																				0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		26	288	0	0	0	1	0	26	288					T	22973781	C	T	22973781	2	4	79	1	0	0	0	0	0	0	0	1	1964	639	23	1		1	C1QC	1	22973781	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	22973781	226276840	295	10612											
C1QC	714	broad.mit.edu	37	chr1	22973816	22973816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggccccatgggaccccCtgggatgccaggggtgcccg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973816C>T	ENST00000374639.3	+	3	396	c.278C>T	c.(277-279)cCt>cTt	p.P93L	C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	93	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGACCCCCTGGGATGCCA	0.632																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(277-279)cCt>cTt		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						33	39	37					1																	22973816		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973816C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.278C>T	1.37:g.22973816C>T	ENSP00000363770:p.Pro93Leu					C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	396	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	93			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.278C>T	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321665	0.10845	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.96885	-4.16;-4.16;-4.16	4.94	4.02	0.46733	.	1.052530	0.07347	N	0.881735	D	0.93946	0.8062	L	0.54965	1.715	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	D	0.85010	0.0905	10	0.29301	T	0.29	.	8.0291	0.30454	0.0:0.8176:0.0:0.1824	.	93	P02747	C1QC_HUMAN	L	93	ENSP00000363771:P93L;ENSP00000363770:P93L;ENSP00000363768:P93L	ENSP00000363768:P93L	P	+	2	0	C1QC	22846403	0.000000	0.05858	0.038000	0.18304	0.490000	0.33462	1.274000	0.33132	2.280000	0.76307	0.561000	0.74099	CCT		0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		27	301	0	0	0	1	0	27	301					T	22973816	C	T	22973816	3	4	79	1	0	0	0	0	1	0	0	0	1964	681	24	2	284	2	C1QC	1	22973816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	22973816	226276805	296	10613											
C1QC	714	broad.mit.edu	37	chr1	22974234	22974234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggtgggcatccagggCtctgacagcgtcttctccgg	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22974234C>T	ENST00000374639.3	+	3	814	c.696C>T	c.(694-696)ggC>ggT	p.G232G	C1QC_ENST00000374640.4_Silent_p.G232G|C1QC_ENST00000374637.1_Silent_p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	232	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCATCCAGGGCTCTGACAGCG	0.637																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(694-696)ggC>ggT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						96	95	95					1																	22974234		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974234C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.696C>T	1.37:g.22974234C>T						C1QC_ENST00000374640.4_Silent_p.G232G|C1QC_ENST00000374637.1_Silent_p.G232G	p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	814	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	232			C1q.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.696C>T	CCDS227.1																																																																																				0.637	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		8	420	0	0	0	1	0	8	420					T	22974234	C	T	22974234	2	4	79	1	0	0	0	0	0	0	0	1	1964	784	28	2		2	C1QC	1	22974234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	22974234	226276387	297	10614											
EPHB2	2048	broad.mit.edu	37	chr1	23191452	23191452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacccctccccgcgactcCggaggccgagaggacctcgt	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	350	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCGCGACTCCGGAGGCCGAG	0.657																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1048-1050)tcC>tcT		EPH receptor B2							65	72	70					1																	23191452		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191452C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1050C>T	1.37:g.23191452C>T						EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S	p.S350S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	5	1068	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	350			Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1050C>T																																																																																					0.657	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		66	699	0	0	0	1	0	66	699					T	23191452	C	T	23191452	2	4	79	1	0	0	0	0	0	0	0	1	5193	639	23	1		1	EPHB2	1	23191452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217218	23191452	226059169	298	10615											
EPHB2	2048	broad.mit.edu	37	chr1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcgccatcgtgtgtaAcaggtgggtggggtctccag	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	566					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATCGTGTGTAACAGGTGGGTG	0.577																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1696-1698)aAc>aGc		EPH receptor B2							101	88	92					1																	23222070		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23222070A>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1697A>G	1.37:g.23222070A>G	ENSP00000383053:p.Asn566Ser					EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S	p.N566S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	8	1715	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	566					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1697A>G		.	.	.	.	.	.	.	.	.	.	A	6.939	0.543039	0.13250	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.98	4.98	0.66077	.	0.430341	0.23937	N	0.043085	T	0.02848	0.0085	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45411	-0.9263	10	0.22109	T	0.4	.	8.3167	0.32104	0.9114:0.0:0.0886:0.0	.	566;584;566	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	S	566;566;566;561	ENSP00000363761:N566S;ENSP00000383053:N566S;ENSP00000363763:N566S;ENSP00000363758:N561S	ENSP00000363758:N561S	N	+	2	0	EPHB2	23094657	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	1.048000	0.30379	2.082000	0.62665	0.533000	0.62120	AAC		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		21	313	0	0	0	1	0	21	313					G	23222070	A	G	23222070	3	3	79	1	0	0	0	0	1	0	0	0	5193	43	2	4	1727	4	EPHB2	1	23222070	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30618	23222070	226028551	299	10616											
KDM1A	23028	broad.mit.edu	37	chr1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcgggagaacatacgAtccgtaactacccagccaca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000356634.3	+	19	2559	c.2410A>C	c.(2410-2412)Atc>Ctc	p.I804L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|KDM1A_ENST00000400181.4_Missense_Mutation_p.I828L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	804	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(2482-2484)Atc>Ctc		lysine (K)-specific demethylase 1A							92	82	85					1																	23409708		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23409708A>C	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2410A>C	1.37:g.23409708A>C	ENSP00000349049:p.Ile804Leu					KDM1A_ENST00000356634.3_Missense_Mutation_p.I804L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L	p.I828L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			21	2586	+			804			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.2482A>C	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731644	0.89390	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.65975	2.015	0.80722	D	1	P;P	0.48016	0.802;0.904	P;P	0.58721	0.643;0.844	D	0.94022	0.7293	10	0.42905	T	0.14	-13.296	15.0953	0.72229	1.0:0.0:0.0:0.0	.	828;804	O60341-2;O60341	.;KDM1A_HUMAN	L	804;828;828	ENSP00000349049:I804L;ENSP00000383042:I828L;ENSP00000439072:I828L	ENSP00000349049:I804L	I	+	1	0	KDM1A	23282295	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.252000	0.95491	2.156000	0.67533	0.533000	0.62120	ATC		0.483	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		84	330	0	0	0	1	0	84	330					C	23409708	A	C	23409708	3	2	79	1	0	0	0	0	1	0	0	0	8152	333	12	4	2564	4	KDM1A	1	23409708	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187638	23409708	225840913	300	10617											
LUZP1	7798	broad.mit.edu	37	chr1	23419834	23419834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaagctcttcttccaaCgattcaaagtgtttgatttg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	307					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(919-921)tcG>tcA		leucine zipper protein 1							178	170	173					1																	23419834		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23419834C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.921G>A	1.37:g.23419834C>T						LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S	p.S307S			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1722	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	307					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.921G>A	CCDS30628.1																																																																																				0.338	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		57	503	0	0	0	1	0	57	503					T	23419834	C	T	23419834	2	4	79	1	0	0	0	0	0	0	0	1	9124	523	19	1		1	LUZP1	1	23419834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	23419834	225830787	301	10618											
HTR1D	3352	broad.mit.edu	37	chr1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagaagtcaaagagcgCcgggtggatccagcaggagt	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1006-1008)Gcg>Tcg		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						75	82	80					1																	23519707		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519707C>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1006G>T	1.37:g.23519707C>A	ENSP00000363748:p.Ala336Ser					HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1515	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	336						Missense_Mutation	SNP	ENST00000374619.1	37	c.1006G>T	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100115	0.20552	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.37058	1.22;1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.395173	0.26499	N	0.024039	T	0.26340	0.0643	N	0.25094	0.71	0.32500	N	0.538982	B	0.27166	0.17	B	0.39339	0.297	T	0.34925	-0.9809	10	0.10111	T	0.7	.	7.2503	0.26146	0.0:0.7326:0.174:0.0934	.	336	P28221	5HT1D_HUMAN	S	336	ENSP00000313661:A336S;ENSP00000363748:A336S	ENSP00000313661:A336S	A	-	1	0	HTR1D	23392294	0.973000	0.33851	0.991000	0.47740	0.946000	0.59487	2.543000	0.45752	2.518000	0.84900	0.650000	0.86243	GCG		0.512	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		114	433	1	0	1.67525e-54	1	2.09142e-54	114	433					A	23519707	C	A	23519707	3	1	79	1	0	0	0	0	1	0	0	0	7468	739	26	3	131	3	HTR1D	1	23519707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99873	23519707	225730914	302	10619											
HNRNPR	10236	broad.mit.edu	37	chr1	23650226	23650226	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtattttgcctacaaatacCtgaaataaaacccccttatt	4	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000374612.1	-	6	622		c.e6-1		HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000478691.1_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTACAAATACCTGAAATAAAA	0.398																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e5-1		heterogeneous nuclear ribonucleoprotein R							63	68	66					1																	23650226		2203	4300	6503	SO:0001630	splice_region_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650226C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.499-1G>T	1.37:g.23650226C>A						HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374612.1_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site		NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	467	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Splice_Site	SNP	ENST00000374612.1	37		CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771377	0.69992	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5575	0.56263	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPR	23522813	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.684000	0.84104	1.298000	0.44778	0.561000	0.74099	.		0.398	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	Intron	26	277	1	0	2.44723e-14	1	2.65813e-14	26	277					A	23650226	C	A	23650226	5	1	79	1	0	0	0	0	0	0	1	0	7302	695	24	3	1436	3	HNRNPR	1	23650226	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130519	23650226	225600395	303	10620											
ASAP3	55616	broad.mit.edu	37	chr1	23758362	23758362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggctggactgcccaggctCtcaggggtctcaggggcctc	16	13	2	0	rs375573559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	791					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCCCAGGCTCTCAGGGGTCT	0.552																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2371-2373)gaG>gaA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3		C	,	1,4405	2.1+/-5.4	0,1,2202	40	47	45		2346,2373	3.1	0.7	1		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASAP3	NM_001143778.1,NM_017707.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	782/895,791/904	23758362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23758362C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2373G>A	1.37:g.23758362C>T						ASAP3_ENST00000484906.1_Intron|ASAP3_ENST00000437606.2_Silent_p.E782E|ASAP3_ENST00000495646.1_Silent_p.E295E	p.E791E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			23	2417	-			791					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.2373G>A	CCDS235.1																																																																																				0.552	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		78	298	0	0	0	1	0	78	298					T	23758362	C	T	23758362	2	4	79	1	0	0	0	0	0	0	0	1	1013	912	32	2		2	ASAP3	1	23758362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108136	23758362	225492259	304	10621											
ASAP3	55616	broad.mit.edu	37	chr1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagcagcttgaggcagtCgggctggttgtagagtgctg	17	8	0	2	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	636					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGAGGCAGTCGGGCTGGTTG	0.582																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(1906-1908)Gac>Aac		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							128	112	117					1																	23760792		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23760792C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1906G>A	1.37:g.23760792C>T	ENSP00000338769:p.Asp636Asn					ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N|ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N	p.D636N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			19	1950	-			636					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1906G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291951	0.40594	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.66099	-0.19;-0.19;-0.19	4.0	3.08	0.35506	Ankyrin repeat-containing domain (4);	0.213938	0.37623	N	0.002014	T	0.45397	0.1340	L	0.28556	0.865	0.39951	D	0.97454	P;P;B;B	0.40066	0.701;0.683;0.379;0.407	B;B;B;B	0.36378	0.076;0.16;0.223;0.151	T	0.49390	-0.8945	10	0.62326	D	0.03	.	8.3007	0.32012	0.0:0.7986:0.0:0.2014	.	627;505;159;636	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	N	159;140;636;627	ENSP00000436150:D140N;ENSP00000338769:D636N;ENSP00000408826:D627N	ENSP00000338769:D636N	D	-	1	0	ASAP3	23633379	0.997000	0.39634	0.980000	0.43619	0.250000	0.25880	3.464000	0.53057	1.027000	0.39758	0.297000	0.19635	GAC		0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		69	329	0	0	0	1	0	69	329					T	23760792	C	T	23760792	3	4	79	1	0	0	0	0	1	0	0	0	1013	884	31	1	833	1	ASAP3	1	23760792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2430	23760792	225489829	305	10622											
TCEB3	6924	broad.mit.edu	37	chr1	24076437	24076437	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggttcctgtggaaCggtaagaacatttctcttta	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TCEB3_ENST00000609199.1_Splice_Site_p.R80*|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	106					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCTGTGGAACGGTAAGAACA	0.393																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.e3+1		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							81	83	82					1																	24076437		2203	4300	6503	SO:0001630	splice_region_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24076437C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.317+1C>T	1.37:g.24076437C>T						TCEB3_ENST00000487554.1_3'UTR	p.R106_splice	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	587	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	106					B2R7Q8|Q8IXH1	Splice_Site	SNP	ENST00000418390.2	37	c.317_splice	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	38	6.847530	0.97881	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.92	3.89	0.44902	.	0.278788	0.27424	N	0.019427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6452	13.8483	0.63481	0.3956:0.6044:0.0:0.0	.	.	.	.	X	106	.	ENSP00000395574:R106X	R	+	1	2	TCEB3	23949024	0.767000	0.28508	1.000000	0.80357	0.995000	0.86356	0.433000	0.21477	1.480000	0.48289	0.650000	0.86243	CGA		0.393	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	Nonsense_Mutation	15	117	0	0	0	1	0	15	117					T	24076437	C	T	24076437	5	4	79	1	0	0	0	0	0	0	1	0	15733	550	19	1	326	1	TCEB3	1	24076437	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315645	24076437	225174184	306	10623											
MYOM3	127294	broad.mit.edu	37	chr1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggtgacctggcccgtctCggagccatacttgttcttga	12	11	2	2	rs369560899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000374434.3	-	37	4408	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(4255-4257)Gag>Aag		myomesin 3		C	LYS/GLU	0,4152		0,0,2076	87	87	87		4246	5.2	0.9	1		87	1,8385		0,1,4192	no	missense	MYOM3	NM_152372.3	56	0,1,6268	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1416/1438	24383922	1,12537	2076	4193	6269	SO:0001583	missense	127294							g.chr1:24383922C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4246G>A	1.37:g.24383922C>T	ENSP00000363557:p.Glu1416Lys					MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1416K	p.E1419K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4417	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1416			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4255G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247414	0.95305	0.0	1.19E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059545	0.64402	D	0.000003	T	0.73418	0.3584	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.66716	0.946;0.216	T	0.66897	-0.5807	10	0.13470	T	0.59	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	1416;309	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	309;1416;1419;310	ENSP00000342689:E309K;ENSP00000363557:E1416K;ENSP00000332670:E1419K	ENSP00000332670:E1419K	E	-	1	0	MYOM3	24256509	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	4.683000	0.61679	2.436000	0.82500	0.655000	0.94253	GAG		0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		58	165	0	0	0	1	0	58	165					T	24383922	C	T	24383922	3	4	79	1	0	0	0	0	1	0	0	0	10134	893	31	1	71	1	MYOM3	1	24383922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307485	24383922	224866699	307	10624											
MYOM3	127294	broad.mit.edu	37	chr1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaactgacgtgatagcctGtgacaggcccagcccccata	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000374434.3	-	20	2663	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	834	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2503-2505)aCa>aTa		myomesin 3							57	63	61					1																	24406591		1950	4148	6098	SO:0001583	missense	127294							g.chr1:24406591G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2501C>T	1.37:g.24406591G>A	ENSP00000363557:p.Thr834Ile					MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.T834I	p.T835I			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	20	2666	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	834			Fibronectin type-III 5.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2504C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587235	0.28268	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.59638	0.25;0.25;0.25	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.63208	1.945	0.41796	D	0.989896	B;B	0.19817	0.026;0.039	B;B	0.28709	0.093;0.045	T	0.53556	-0.8422	10	0.33141	T	0.24	.	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	834;834	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	834;835;834	ENSP00000363557:T834I;ENSP00000332670:T835I;ENSP00000328415:T834I	ENSP00000328415:T834I	T	-	2	0	MYOM3	24279178	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	4.261000	0.58841	2.600000	0.87896	0.655000	0.94253	ACA		0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		38	336	0	0	0	1	0	38	336					A	24406591	G	A	24406591	3	1	79	1	0	0	0	0	1	0	0	0	10134	1377	48	2	1884	2	MYOM3	1	24406591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22669	24406591	224844030	308	10625											
MYOM3	127294	broad.mit.edu	37	chr1	24419480	24419480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcccggggtccgaagggCgagggcacccggaccatgta	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000330966.7_Silent_p.S350S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1048-1050)tcG>tcA		myomesin 3							29	34	32					1																	24419480		1985	4139	6124	SO:0001819	synonymous_variant	127294							g.chr1:24419480C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1047G>A	1.37:g.24419480C>T						MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000374434.3_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR	p.S350S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1212	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	349			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1050G>A	CCDS41281.1																																																																																				0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		15	103	0	0	0	1	0	15	103					T	24419480	C	T	24419480	2	4	79	1	0	0	0	0	0	0	0	1	10134	755	27	1		1	MYOM3	1	24419480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12889	24419480	224831141	309	10626											
IL28RA	163702	broad.mit.edu	37	chr1	24485614	24485614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagatcacaccccctgcGgcaattactaacagcagtat	6	14	1	1	rs574516768		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24485614G>A	ENST00000327535.1	-	6	741	c.729C>T	c.(727-729)gcC>gcT	p.A243A	IFNLR1_ENST00000374419.1_Silent_p.A160A|IFNLR1_ENST00000374421.3_Silent_p.A243A|IFNLR1_ENST00000327575.2_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CACCCCCTGCGGCAATTACTA	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0					ENST00000327535.1																			0											c.(727-729)gcC>gcT		interferon, lambda receptor 1							68	68	68					1																	24485614		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24485614G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.729C>T	1.37:g.24485614G>A						IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374421.3_Silent_p.A243A|IFNLR1_ENST00000374419.1_Silent_p.A160A	p.A243A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					6	741	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.729C>T	CCDS248.1																																																																																				0.527	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		47	359	0	0	0	1	0	47	359					A	24485614	G	A	24485614	2	1	79	1	0	0	0	0	0	0	0	1	7714	1103	39	1		1	IL28RA	1	24485614	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66134	24485614	224765007	310	10627											
GRHL3	57822	broad.mit.edu	37	chr1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccggctctgtggacaGctacctgttacccaccactg	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000350501.5	+	4	612	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.S162N	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	162					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(484-486)aGc>aAc		grainyhead-like 3 (Drosophila)							84	93	90					1																	24663190		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663190G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.485G>A	1.37:g.24663190G>A	ENSP00000288955:p.Ser162Asn					GRHL3_ENST00000350501.5_Missense_Mutation_p.S162N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000530984.1_3'UTR	p.S162N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	715	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	162					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.485G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594031	0.46214	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12984	2.89;2.63;2.87;2.88;2.88	6.02	6.02	0.97574	.	0.562092	0.19630	N	0.109684	T	0.14485	0.0350	L	0.56769	1.78	0.28519	N	0.913146	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.16722	0.007;0.016;0.016	T	0.09271	-1.0682	10	0.24483	T	0.36	-22.351	9.0793	0.36542	0.0774:0.1595:0.7631:0.0	.	116;167;162	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	162;69;162;116;167	ENSP00000354943:S162N;ENSP00000340543:S69N;ENSP00000288955:S162N;ENSP00000348333:S116N;ENSP00000236255:S167N	ENSP00000236255:S167N	S	+	2	0	GRHL3	24535777	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.489000	0.35562	2.865000	0.98341	0.655000	0.94253	AGC		0.597	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		69	611	0	0	0	1	0	69	611					A	24663190	G	A	24663190	3	1	79	1	0	0	0	0	1	0	0	0	6795	971	34	2	535	2	GRHL3	1	24663190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177576	24663190	224587431	311	10628											
NIPAL3	57185	broad.mit.edu	37	chr1	24782746	24782746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtgcatggtggcaacCgccgtctatcaggctgcgtg	14	11	2	0	rs201215627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000374399.4	+	8	1124	c.756C>T	c.(754-756)acC>acT	p.T252T	NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000003912.3_Silent_p.T170T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	252						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552													c|||	3	0.000599042	0.0	0.0	5008	,	,		21141	0.003		0.0	False		,,,				2504	0.0					ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(508-510)acC>acT		NIPA-like domain containing 3							448	397	414					1																	24782746		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24782746C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.756C>T	1.37:g.24782746C>T						NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000374399.4_Silent_p.T252T	p.T170T			Q6P499	NPAL3_HUMAN			9	1225	+			252					A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.510C>T	CCDS30631.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	3.023	-0.201377	0.06219	.	.	ENSG00000001461	ENST00000432012	.	.	.	5.49	-6.75	0.01738	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	-47.7037	0.1287	0.00072	0.2951:0.2109:0.1684:0.3256	.	.	.	.	C	31	.	.	R	+	1	0	NIPAL3	24655333	0.000000	0.05858	0.090000	0.20809	0.524000	0.34500	-4.210000	0.00273	-1.102000	0.03023	-0.993000	0.02533	CGC		0.552	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		400	1580	0	0	0	1	0	400	1580					T	24782746	C	T	24782746	2	4	79	1	0	0	0	0	0	0	0	1	10468	639	23	1		1	NIPAL3	1	24782746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119556	24782746	224467875	312	10629											
RCAN3	11123	broad.mit.edu	37	chr1	24859587	24859587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgcagatgtccggCgaagtgcgggacaagtccta	15	10	0	1	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000412742.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	128					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562													C|||	36	0.0071885	0.0265	0.0014	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.0					ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(382-384)ggC>ggT		RCAN family member 3		C		84,4322	72.0+/-110.0	0,84,2119	56	49	51		384	-5.4	0	1	dbSNP_126	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RCAN3	NM_013441.2		0,85,6418	TT,TC,CC		0.0116,1.9065,0.6535		128/242	24859587	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24859587C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.384C>T	1.37:g.24859587C>T						RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000374393.2_Intron	p.G128G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	4	697	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	128					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Silent	SNP	ENST00000374395.4	37	c.384C>T	CCDS254.1																																																																																				0.562	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			23	132	0	0	0	1	0	23	132					T	24859587	C	T	24859587	2	4	79	1	0	0	0	0	0	0	0	1	13220	755	27	1		1	RCAN3	1	24859587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76841	24859587	224391034	313	10630											
SRRM1	10250	broad.mit.edu	37	chr1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttggtttagtggtagaCggaggagaagtccatcccca	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TAGTGGTAGACGGAGGAGAAG	0.547																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1636-1638)Cgg>Tgg		serine/arginine repetitive matrix 1							45	41	43					1																	24993313		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993313C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1636C>T	1.37:g.24993313C>T	ENSP00000326261:p.Arg546Trp					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|SRRM1_ENST00000479034.1_3'UTR	p.R546W	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	1951	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	546			Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1636C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865956	0.51588	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.58210	0.35;0.39;0.39	5.75	3.84	0.44239	.	0.000000	0.56097	D	0.000026	T	0.50411	0.1614	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.993	P;B	0.47744	0.556;0.353	T	0.51293	-0.8724	10	0.72032	D	0.01	-1.6334	7.3672	0.26781	0.3668:0.5543:0.0:0.079	.	558;546	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	W	546;558;555	ENSP00000326261:R546W;ENSP00000391430:R558W;ENSP00000363510:R555W	ENSP00000326261:R546W	R	+	1	2	SRRM1	24865900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	0.723000	0.32274	0.650000	0.86243	CGG		0.547	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		45	189	0	0	0	1	0	45	189					T	24993313	C	T	24993313	3	4	79	1	0	0	0	0	1	0	0	0	15220	527	19	1	1686	1	SRRM1	1	24993313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133726	24993313	224257308	314	10631											
SRRM1	10250	broad.mit.edu	37	chr1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgtaccggtcaaaAaggccaaaagcccaacaccg	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	788	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCGGTCAAAAAGGCCAAAAG	0.517																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2362-2364)Aag>Cag		serine/arginine repetitive matrix 1							94	90	92					1																	24996768		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24996768A>C	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2362A>C	1.37:g.24996768A>C	ENSP00000326261:p.Lys788Gln					SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000479034.1_3'UTR	p.K788Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	15	2677	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	788			Pro-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2362A>C	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929630	0.73327	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56275	0.68;0.47;0.47	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	T	0.48978	0.1530	L	0.46157	1.445	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.54296	-0.8315	10	0.62326	D	0.03	-3.162	15.7229	0.77728	1.0:0.0:0.0:0.0	.	800;788	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	788;800;797	ENSP00000326261:K788Q;ENSP00000391430:K800Q;ENSP00000363510:K797Q	ENSP00000326261:K788Q	K	+	1	0	SRRM1	24869355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.410000	0.90225	2.116000	0.64780	0.528000	0.53228	AAG		0.517	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		67	497	0	0	0	1	0	67	497					C	24996768	A	C	24996768	3	2	79	1	0	0	0	0	1	0	0	0	15220	15	1	4	2420	4	SRRM1	1	24996768	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	24996768	224253853	315	10632											
SRRM1	10250	broad.mit.edu	37	chr1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacaagaaggaaaaggCtgtggctgcagctgctgcag	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	836	Ala-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		aagGAAAAGgctgtggctgca	0.498																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2506-2508)gCt>gTt		serine/arginine repetitive matrix 1							36	35	35					1																	24997983		2203	4295	6498	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24997983C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2507C>T	1.37:g.24997983C>T	ENSP00000326261:p.Ala836Val					SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000479034.1_3'UTR	p.A836V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	16	2822	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	836			Ala-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2507C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138058	0.77775	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.47528	0.84;0.85;0.85	5.81	5.81	0.92471	.	0.200219	0.34959	N	0.003541	T	0.32526	0.0832	N	0.12746	0.255	0.80722	D	1	P;B	0.36909	0.573;0.209	B;B	0.32090	0.14;0.066	T	0.23190	-1.0195	10	0.52906	T	0.07	-2.9051	18.6677	0.91497	0.0:1.0:0.0:0.0	.	848;836	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	836;848;845	ENSP00000326261:A836V;ENSP00000391430:A848V;ENSP00000363510:A845V	ENSP00000326261:A836V	A	+	2	0	SRRM1	24870570	0.998000	0.40836	0.989000	0.46669	0.983000	0.72400	4.973000	0.63763	2.741000	0.93983	0.650000	0.86243	GCT		0.498	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		22	140	0	0	0	1	0	22	140					T	24997983	C	T	24997983	3	4	79	1	0	0	0	0	1	0	0	0	15220	797	28	2	2569	2	SRRM1	1	24997983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1215	24997983	224252638	316	10633											
RUNX3	864	broad.mit.edu	37	chr1	25229078	25229078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggggtctgggaagcgGctctccgtgagggttggcag	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	ENST00000308873.6	-	5	791	c.783C>T	c.(781-783)agC>agT	p.S261S	RUNX3_ENST00000399916.1_Silent_p.S275S|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	261	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CTGGGAAGCGGCTCTCCGTGA	0.657																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(823-825)agC>agT		runt-related transcription factor 3							72	74	73					1																	25229078		2195	4294	6489	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229078G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.783C>T	1.37:g.25229078G>A						RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000308873.6_Silent_p.S261S|RUNX3_ENST00000496967.1_5'UTR	p.S275S	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1263	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	261			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.825C>T	CCDS257.1																																																																																				0.657	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		71	679	0	0	0	1	0	71	679					A	25229078	G	A	25229078	2	1	79	1	0	0	0	0	0	0	0	1	13799	1194	42	2		2	RUNX3	1	25229078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231095	25229078	224021543	317	10634											
RUNX3	864	broad.mit.edu	37	chr1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcggcgagtaggtcGggaaggagtcgaagatgctg	19	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000338888.3	-	2	277	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L|RP11-84D1.1_ENST00000456316.1_RNA			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	0					axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGAGTAGGTCGGGAAGGAGTC	0.617																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(31-33)cCg>cTg		runt-related transcription factor 3							65	52	57					1																	25291031		2202	4300	6502	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25291031G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.32C>T	1.37:g.25291031G>A	ENSP00000343477:p.Pro11Leu					RUNX3_ENST00000338888.3_Missense_Mutation_p.P11L	p.P11L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	1	470	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	256					B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000338888.3	37	c.32C>T	CCDS30633.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786488	0.49997	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	D;D	0.96745	-4.11;-4.11	5.67	5.67	0.87782	.	0.351698	0.20834	N	0.084826	D	0.93890	0.8045	N	0.11560	0.145	0.80722	D	1	D;B	0.61080	0.989;0.027	P;B	0.53490	0.727;0.01	D	0.94337	0.7567	10	0.51188	T	0.08	-20.3512	15.2825	0.73797	0.0:0.0:1.0:0.0	.	11;11	Q13761-2;B1AJV5	.;.	L	11	ENSP00000382800:P11L;ENSP00000343477:P11L	ENSP00000343477:P11L	P	-	2	0	RUNX3	25163618	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	CCG		0.617	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009285.1	NM_004350		7	80	0	0	0	1	0	7	80					A	25291031	G	A	25291031	3	1	79	1	0	0	0	0	1	0	0	0	13799	1116	39	1	1297	1	RUNX3	1	25291031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61953	25291031	223959590	318	10635											
SYF2	25949	broad.mit.edu	37	chr1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttgaatttggcattcCtttcattaatgtagtcgata	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	214					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(640-642)aGg>aTg		SYF2 pre-mRNA-splicing factor							189	193	192					1																	25549848		2203	4300	6503	SO:0001583	missense	25949					catalytic step 2 spliceosome		g.chr1:25549848C>A	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 29"	607090	"CCNDBP1 interactor", "SYF2 homolog, RNA splicing factor (S. cerevisiae)"	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.641G>T	1.37:g.25549848C>A	ENSP00000236273:p.Arg214Met					SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	p.R214M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	7	666	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	214					Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	c.641G>T	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925336	0.52759	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.55052	0.54;0.58	5.56	4.65	0.58169	.	0.130232	0.64402	D	0.000001	T	0.78444	0.4284	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.84341	0.0527	10	0.87932	D	0	-30.8613	13.5045	0.61477	0.0:0.9238:0.0:0.0762	.	214;214	B2RBX8;O95926	.;SYF2_HUMAN	M	214;172	ENSP00000236273:R214M;ENSP00000346330:R172M	ENSP00000236273:R214M	R	-	2	0	SYF2	25422435	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.409000	0.80053	1.491000	0.48482	-0.140000	0.14226	AGG		0.353	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		124	413	1	0	1.58838e-66	1	2.01039e-66	124	413					A	25549848	C	A	25549848	3	1	79	1	0	0	0	0	1	0	0	0	15489	681	24	3	94	3	SYF2	1	25549848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258817	25549848	223700773	319	10636											
RHD	6007	broad.mit.edu	37	chr1	25599174	25599174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcaaaaggggctcgtgGcatcctatcaaggtgagagt	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25599174G>A	ENST00000328664.4	+	1	291	c.136G>A	c.(136-138)Gca>Aca	p.A46T	RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	46						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCTCGTGGCATCCTATCA	0.537																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(136-138)Gca>Aca		Rh blood group, D antigen							85	71	76					1																	25599174		2200	4289	6489	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25599174G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.136G>A	1.37:g.25599174G>A	ENSP00000331871:p.Ala46Thr					RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T|RHD_ENST00000357542.4_Missense_Mutation_p.A46T	p.A46T	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	291	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	46					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.136G>A	CCDS262.1	.	.	.	.	.	.	.	.	.	.	g	9.863	1.196861	0.22037	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	3.5	0.39	0.16275	Ammonium transporter AmtB-like (3);	2.061140	0.01722	N	0.028330	T	0.37293	0.0998	L	0.41573	1.285	0.09310	N	1	B;P;D;P;P;B;P;P	0.69078	0.409;0.605;0.997;0.772;0.542;0.362;0.814;0.605	B;P;D;P;B;B;P;B	0.75020	0.348;0.464;0.985;0.484;0.281;0.249;0.602;0.388	T	0.43507	-0.9387	10	0.10902	T	0.67	0.5042	6.3361	0.21296	0.3865:0.0:0.6135:0.0	.	46;46;46;46;46;46;46;46	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	T	46	ENSP00000331871:A46T;ENSP00000413849:A46T;ENSP00000339577:A46T;ENSP00000350150:A46T;ENSP00000396420:A46T;ENSP00000399640:A46T	ENSP00000331871:A46T	A	+	1	0	RHD	25471761	0.002000	0.14202	0.004000	0.12327	0.001000	0.01503	0.091000	0.15046	0.140000	0.18849	-0.347000	0.07816	GCA		0.537	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		105	467	0	0	0	1	0	105	467					A	25599174	G	A	25599174	3	1	79	1	0	0	0	0	1	0	0	0	13377	1203	42	2	138	2	RHD	1	25599174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49326	25599174	223651447	320	10637											
RHD	6007	broad.mit.edu	37	chr1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcagtcagcgtggtgacaGccatctcagggtcatccttg	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	252						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTGGTGACAGCCATCTCAGG	0.547																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(754-756)Gcc>Tcc		Rh blood group, D antigen							181	139	154					1																	25628130		2128	3764	5892	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25628130G>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.754G>T	1.37:g.25628130G>T	ENSP00000331871:p.Ala252Ser					RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S	p.A252S	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	909	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	252					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.754G>T	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848895	0.32699	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.8	3.8	0.43715	Ammonium transporter AmtB-like (3);	0.112422	0.64402	D	0.000013	T	0.37128	0.0992	L	0.35723	1.085	0.48901	D	0.999723	D;P;D;P;P;D;P;P	0.69078	0.96;0.828;0.997;0.828;0.928;0.979;0.932;0.72	P;P;D;P;P;P;P;P	0.79108	0.764;0.58;0.992;0.654;0.687;0.87;0.859;0.654	T	0.06516	-1.0822	10	0.39692	T	0.17	-11.8312	11.213	0.48810	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252;252	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	S	252	ENSP00000331871:A252S;ENSP00000413849:A252S;ENSP00000339577:A252S;ENSP00000350150:A252S;ENSP00000396420:A252S;ENSP00000399640:A252S	ENSP00000331871:A252S	A	+	1	0	RHD	25500717	1.000000	0.71417	0.479000	0.27329	0.022000	0.10575	2.282000	0.43461	1.671000	0.50874	0.184000	0.17185	GCC		0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		24	843	1	0	7.07758e-08	1	7.37026e-08	24	843					T	25628130	G	T	25628130	3	4	79	1	0	0	0	0	1	0	0	0	13377	971	34	3	772	3	RHD	1	25628130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28956	25628130	223622491	321	10638											
RHCE	6006	broad.mit.edu	37	chr1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggaggacctggaagCcaatcctagaaatgacaaag	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000349438.4	-	7	963	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000243186.6_Intron	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	16						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537																																						ENST00000425135.1																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(805-807)tgG>tgA		Rh blood group, CcEe antigens							179	145	157					1																	25701914		2202	4295	6497	SO:0001587	stop_gained	6006					integral to plasma membrane		g.chr1:25701914C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"CD molecules", "Blood group antigens"	10008	protein-coding gene	gene with protein product		111700	"Rhesus blood group, CcEe antigens"	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349438.4:c.945G>A	1.37:g.25701914C>T	ENSP00000334570:p.Trp315*					RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000349438.4_Nonsense_Mutation_p.W315*|RHCE_ENST00000413854.1_Intron	p.W269*			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	892	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	269					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Nonsense_Mutation	SNP	ENST00000349438.4	37	c.807G>A	CCDS30637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.05|11.05	1.523411|1.523411	0.27299|0.27299	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413|ENST00000425135;ENST00000447203;ENST00000349438	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;2.45;1.82|.	4.87|4.87	-0.203|-0.203	0.13204|0.13204	Ammonium transporter AmtB-like (3);|.	1.265480|.	0.05264|.	N|.	0.516210|.	T|.	0.48277|.	0.1491|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	A|A	1|1	B;B;D|.	0.89917|.	0.08;0.005;1.0|.	B;B;D|.	0.97110|.	0.074;0.005;1.0|.	T|.	0.51655|.	-0.8678|.	9|.	0.28530|0.23891	T|T	0.3|0.37	0.0295|0.0295	5.1073|5.1073	0.14790|0.14790	0.4748:0.395:0.0:0.1302|0.4748:0.395:0.0:0.1302	.|.	344;209;360|.	Q5VSJ9;E7EQ47;P18577|.	.;.;RHCE_HUMAN|.	D|X	289;255;344;344;38;209;360|269;359;315	ENSP00000416275:G255D;ENSP00000363472:G344D;ENSP00000311185:G344D;ENSP00000344485:G209D;ENSP00000294413:G360D|.	ENSP00000294413:G360D|ENSP00000334570:W315X	G|W	-|-	2|3	0|0	RHCE|RHCE	25574501|25574501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-2.016000|-2.016000	0.01446|0.01446	-0.254000|-0.254000	0.09500|0.09500	-0.158000|-0.158000	0.13435|0.13435	GGC|TGG		0.537	RHCE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000101973.1	NM_020485		55	558	0	0	0	1	0	55	558					T	25701914	C	T	25701914	4	4	79	1	0	0	0	0	0	1	0	0	13375	740	26	2	186	2	RHCE	1	25701914	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73784	25701914	223548707	322	10639											
TMEM57	55219	broad.mit.edu	37	chr1	25784913	25784913	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctgatatggattcttcGatccttatacaccacaatgg	6	10	1	1	rs369257820		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	228					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTCTTCGATCCTTATAC	0.403																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(682-684)tcG>tcA		transmembrane protein 57		G		0,4406		0,0,2203	115	127	123		684	-2.9	0.9	1		123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM57	NM_018202.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		228/665	25784913	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784913G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.684G>A	1.37:g.25784913G>A						TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron	p.S228S	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	6	863	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	228					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.684G>A	CCDS30638.1																																																																																				0.403	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		157	588	0	0	0	1	0	157	588					A	25784913	G	A	25784913	2	1	79	1	0	0	0	0	0	0	0	1	16236	1045	37	1		1	TMEM57	1	25784913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82999	25784913	223465708	323	10640											
TMEM57	55219	broad.mit.edu	37	chr1	25815742	25815742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcacgatggacatgaaGgtgaaagaagaccaaatcag	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	525					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGAAGGTGAAAGAAG	0.423																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1573-1575)aaG>aaA		transmembrane protein 57							107	107	107					1																	25815742		2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25815742G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1575G>A	1.37:g.25815742G>A						TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	p.K525K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	9	1754	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	525					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.1575G>A	CCDS30638.1																																																																																				0.423	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		47	151	0	0	0	1	0	47	151					A	25815742	G	A	25815742	2	1	79	1	0	0	0	0	0	0	0	1	16236	991	35	2		2	TMEM57	1	25815742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30829	25815742	223434879	324	10641											
TMEM57	55219	broad.mit.edu	37	chr1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcactgggcgatgcaaagCggcagctcgagattgcccaa	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.R591W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567																																						ENST00000374343.4																			1	Substitution - Missense(1)	p.R591W(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1771-1773)Cgg>Tgg		transmembrane protein 57							78	64	69					1																	25818054		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25818054C>T	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1771C>T	1.37:g.25818054C>T	ENSP00000363463:p.Arg591Trp					TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	p.R591W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	10	1950	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	591					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1771C>T	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	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	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	TMEM57	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG		0.567	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		16	189	0	0	0	1	0	16	189					T	25818054	C	T	25818054	3	4	79	1	0	0	0	0	1	0	0	0	16236	759	27	1	1809	1	TMEM57	1	25818054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2312	25818054	223432567	325	10642											
LDLRAP1	26119	broad.mit.edu	37	chr1	25880492	25880492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagtacctgggcatgacGctagtggagcagcccaaggg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	56	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCATGACGCTAGTGGAGC	0.637																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(166-168)acG>acA		low density lipoprotein receptor adaptor protein 1							76	64	68					1																	25880492		2203	4300	6503	SO:0001819	synonymous_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25880492G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.168G>A	1.37:g.25880492G>A						LDLRAP1_ENST00000488127.1_3'UTR	p.T56T	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	2	287	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	56			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	37	c.168G>A	CCDS30639.1																																																																																				0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		32	267	0	0	0	1	0	32	267					A	25880492	G	A	25880492	2	1	79	1	0	0	0	0	0	0	0	1	8739	1074	38	1		1	LDLRAP1	1	25880492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62438	25880492	223370129	326	10643											
LDLRAP1	26119	broad.mit.edu	37	chr1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagcagcggcacagaGcaggatgacctcttcagctt	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	301					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGAGCAGGATGACC	0.647																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(901-903)gaG>gaT		low density lipoprotein receptor adaptor protein 1							41	36	38					1																	25893459		2203	4300	6503	SO:0001583	missense	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25893459G>T	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.903G>T	1.37:g.25893459G>T	ENSP00000363458:p.Glu301Asp					LDLRAP1_ENST00000488127.1_3'UTR	p.E301D	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	9	1022	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	301					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.903G>T	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591921	0.28357	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.54	-1.66	0.08265	.	0.494512	0.22727	N	0.056372	T	0.27559	0.0677	L	0.27053	0.805	0.26597	N	0.973083	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.25106	T	0.35	-20.2171	1.3273	0.02128	0.2906:0.2337:0.3498:0.126	.	301;301	B3KR97;Q5SW96	.;ARH_HUMAN	D	301	ENSP00000363458:E301D	ENSP00000363458:E301D	E	+	3	2	LDLRAP1	25766046	0.200000	0.23398	0.971000	0.41717	0.669000	0.39330	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG		0.647	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		16	207	1	0	3.41278e-10	1	3.61262e-10	16	207					T	25893459	G	T	25893459	3	4	79	1	0	0	0	0	1	0	0	0	8739	962	34	3	937	3	LDLRAP1	1	25893459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12967	25893459	223357162	327	10644											
MAN1C1	57134	broad.mit.edu	37	chr1	25944734	25944734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgacttcaacgcattccGgagccgtctccgccacccgg	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25944734G>A	ENST00000374332.4	+	1	776	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGCATTCCGGAGCCGTCTC	0.682																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(445-447)cGg>cAg		mannosidase, alpha, class 1C, member 1							11	10	10					1																	25944734		1825	3746	5571	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944734G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.446G>A	1.37:g.25944734G>A	ENSP00000363452:p.Arg149Gln					MAN1C1_ENST00000263979.3_5'UTR	p.R149Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	776	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	149					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.446G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548846	0.45383	.	.	ENSG00000117643	ENST00000374332	D	0.82803	-1.65	4.67	1.77	0.24775	.	0.412918	0.18006	N	0.154739	T	0.63034	0.2477	N	0.12182	0.205	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.43798	-0.9369	10	0.13853	T	0.58	.	6.7426	0.23445	0.2976:0.0:0.7024:0.0	.	149	Q9NR34	MA1C1_HUMAN	Q	149	ENSP00000363452:R149Q	ENSP00000363452:R149Q	R	+	2	0	MAN1C1	25817321	0.967000	0.33354	0.979000	0.43373	0.980000	0.70556	0.812000	0.27211	0.194000	0.20326	0.655000	0.94253	CGG		0.682	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	58	0	0	0	1	0	4	58					A	25944734	G	A	25944734	3	1	79	1	0	0	0	0	1	0	0	0	9254	1116	39	1	448	1	MAN1C1	1	25944734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51275	25944734	223305887	328	10645											
FAM54B	56181	broad.mit.edu	37	chr1	26150190	26150190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctcgaagtgtagtaagaaGaattgggaccaacctaccct	10	9	0	2	rs200941313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26150190G>T	ENST00000374301.3	+	3	388	c.80G>T	c.(79-81)aGa>aTa	p.R27I	MTFR1L_ENST00000374303.2_Missense_Mutation_p.R27I|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000526894.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.R27I|RP1-317E23.6_ENST00000527604.1_3'UTR|AL020996.1_ENST00000536896.1_5'Flank|MTFR1L_ENST00000474295.1_Missense_Mutation_p.R27I	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	27																	GTAGTAAGAAGAATTGGGACC	0.532																																						ENST00000466284.1																			0											c.(79-81)aGa>aTa		mitochondrial fission regulator 1-like							62	64	63					1																	26150190		2029	4193	6222	SO:0001583	missense	56181							g.chr1:26150190G>T		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.80G>T	1.37:g.26150190G>T	ENSP00000363419:p.Arg27Ile					MTFR1L_ENST00000474295.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.R27I|RP1-317E23.6_ENST00000527604.1_3'UTR|MTFR1L_ENST00000374301.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000526894.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000374303.2_Missense_Mutation_p.R27I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.R27I|MTFR1L_ENST00000469815.1_3'UTR	p.R27I							2	1662	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.80G>T	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245906	0.59103	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	N	0.25890	0.77	0.80722	D	1	P;B;B;B	0.48640	0.913;0.017;0.264;0.021	P;B;B;B	0.52109	0.69;0.02;0.082;0.023	T	0.04454	-1.0950	10	0.14252	T	0.57	-2.9228	15.1749	0.72903	0.0:0.0:0.8589:0.1411	.	60;27;27;27	B4DRE5;Q9H019-3;Q9H019-2;Q9H019	.;.;.;FA54B_HUMAN	I	27	ENSP00000390841:R27I;ENSP00000363421:R27I;ENSP00000434038:R27I;ENSP00000435461:R27I;ENSP00000432227:R27I;ENSP00000363426:R27I;ENSP00000434120:R27I;ENSP00000363419:R27I;ENSP00000431278:R27I;ENSP00000363418:R27I;ENSP00000434751:R27I	ENSP00000363418:R27I	R	+	2	0	FAM54B	26022777	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.974000	0.70465	2.677000	0.91161	0.561000	0.74099	AGA		0.532	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		13	187	1	0	0.0202918	1	0.0203784	13	187					T	26150190	G	T	26150190	3	4	79	1	0	0	0	0	1	0	0	0	5608	942	33	3	86	3	FAM54B	1	26150190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205456	26150190	223100431	329	10646											
FAM54B	56181	broad.mit.edu	37	chr1	26156313	26156313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccgaatgaaacagagTcaagatctgtaagtatctga	8	7	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26156313T>A	ENST00000374301.3	+	6	1073	c.765T>A	c.(763-765)agT>agA	p.S255R	MTFR1L_ENST00000374303.2_Missense_Mutation_p.S255R|MTFR1L_ENST00000524618.1_Missense_Mutation_p.S158R|MTFR1L_ENST00000374300.3_Missense_Mutation_p.S255R|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000374307.5_Missense_Mutation_p.S243R|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000474295.1_3'UTR	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	255																	TGAAACAGAGTCAAGATCTGT	0.433																																						ENST00000374301.3																			0											c.(763-765)agT>agA		mitochondrial fission regulator 1-like							28	27	27					1																	26156313		1919	4119	6038	SO:0001583	missense	56181							g.chr1:26156313T>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.765T>A	1.37:g.26156313T>A	ENSP00000363419:p.Ser255Arg					MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000524618.1_Missense_Mutation_p.S158R|MTFR1L_ENST00000374300.3_Missense_Mutation_p.S255R|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000374303.2_Missense_Mutation_p.S255R|MTFR1L_ENST00000374307.5_Missense_Mutation_p.S243R|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_3'UTR	p.S255R	NM_019557.5	NP_062457.3					6	1073	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.765T>A	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070463	0.36566	.	.	ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300	T;T;T;T	0.51071	0.8;0.72;0.8;0.8	5.95	2.08	0.27032	.	0.151648	0.64402	D	0.000001	T	0.31827	0.0809	L	0.34521	1.04	0.49051	D	0.999747	B;P;P	0.48016	0.317;0.904;0.846	B;B;P	0.44359	0.238;0.393;0.447	T	0.33394	-0.9870	10	0.02654	T	1	-3.3299	9.2569	0.37588	0.0:0.669:0.0:0.331	.	288;243;255	B4DRE5;Q9H019-3;Q9H019	.;.;FA54B_HUMAN	R	255;158;158;243;255;255	ENSP00000363421:S255R;ENSP00000363426:S243R;ENSP00000363419:S255R;ENSP00000363418:S255R	ENSP00000363418:S255R	S	+	3	2	FAM54B	26028900	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.481000	0.45215	0.138000	0.18790	-0.146000	0.13790	AGT		0.433	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		9	95	0	0	0	1	0	9	95					A	26156313	T	A	26156313	3	1	79	1	0	0	0	0	1	0	0	0	5608	1664	58	5	783	5	FAM54B	1	26156313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6123	26156313	223094308	330	10647											
C1orf135	79000	broad.mit.edu	37	chr1	26162173	26162173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggagagagtccagcttCctggatgtctgcagtggttg	15	8	1	2	rs200152788		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26162173C>T	ENST00000374298.3	-	3	439	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	AUNIP_ENST00000538789.1_Missense_Mutation_p.E129K|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	129					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGTCCAGCTTCCTGGATGTCT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19274	0.0		0.001	False		,,,				2504	0.0					ENST00000374298.3																			0											c.(385-387)Gaa>Aaa		aurora kinase A and ninein interacting protein							160	151	154					1																	26162173		2203	4300	6503	SO:0001583	missense	79000							g.chr1:26162173C>T		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.385G>A	1.37:g.26162173C>T	ENSP00000363416:p.Glu129Lys					AUNIP_ENST00000538789.1_Missense_Mutation_p.E129K|AUNIP_ENST00000481602.1_Intron	p.E129K	NM_024037.1	NP_076942.1					3	439	-								C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	c.385G>A	CCDS266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.4	4.409875	0.83340	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56444	0.46;0.46	5.14	5.14	0.70334	.	0.249755	0.28279	N	0.015927	T	0.53818	0.1820	L	0.34521	1.04	0.39991	D	0.975042	P	0.51351	0.944	P	0.52957	0.714	T	0.56486	-0.7971	10	0.56958	D	0.05	-11.4956	13.9704	0.64237	0.0:1.0:0.0:0.0	.	129	Q9H7T9	CA135_HUMAN	K	129	ENSP00000443647:E129K;ENSP00000363416:E129K	ENSP00000363416:E129K	E	-	1	0	C1orf135	26034760	0.983000	0.35010	0.982000	0.44146	0.955000	0.61496	3.347000	0.52200	2.671000	0.90904	0.585000	0.79938	GAA		0.507	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		80	318	0	0	0	1	0	80	318					T	26162173	C	T	26162173	3	4	79	1	0	0	0	0	1	0	0	0	2006	864	30	2	692	2	C1orf135	1	26162173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5860	26162173	223088448	331	10648											
PAQR7	164091	broad.mit.edu	37	chr1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgcagtgaggatgctgCtgcccaccgtgagcaggaag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	325					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(973-975)aGc>aAc		progestin and adipoQ receptor family member VII							81	82	82					1																	26189357		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189357C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.974G>A	1.37:g.26189357C>T	ENSP00000363414:p.Ser325Asn					RP1-125I3.2_ENST00000455431.1_RNA	p.S325N	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1640	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	325					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.974G>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155044	0.38021	.	.	ENSG00000182749	ENST00000374296	T	0.22743	1.94	4.81	4.81	0.61882	.	0.057108	0.64402	D	0.000001	T	0.15003	0.0362	N	0.22421	0.69	0.45378	D	0.998368	P	0.44521	0.837	B	0.38106	0.265	T	0.04400	-1.0954	10	0.33141	T	0.24	-17.3312	15.8292	0.78739	0.0:1.0:0.0:0.0	.	325	Q86WK9	MPRA_HUMAN	N	325	ENSP00000363414:S325N	ENSP00000363414:S325N	S	-	2	0	PAQR7	26061944	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.976000	0.76135	2.479000	0.83701	0.563000	0.77884	AGC		0.577	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		79	318	0	0	0	1	0	79	318					T	26189357	C	T	26189357	3	4	79	1	0	0	0	0	1	0	0	0	11482	797	28	2	70	2	PAQR7	1	26189357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27184	26189357	223061264	332	10649											
STMN1	3925	broad.mit.edu	37	chr1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggcacgcttctccagttCtttcacctggatatctagaa	8	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000465604.1_5'UTR|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	10	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCAGTTCTTTCACCTGG	0.393																																						ENST00000399728.1																			0				breast(2)|large_intestine(2)|skin(2)	6						c.(28-30)Gaa>Taa		stathmin 1							40	43	42					1																	26230290		2202	4300	6502	SO:0001587	stop_gained	3925				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding	g.chr1:26230290C>A	J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"oncoprotein 18"	151442	"chromosome 1 open reading frame 215", "stathmin 1/oncoprotein 18"	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.28G>T	1.37:g.26230290C>A	ENSP00000382633:p.Glu10*					STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*	p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)	3	391	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	10					A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Nonsense_Mutation	SNP	ENST00000399728.1	37	c.28G>T	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	41	9.112063	0.99069	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	5.72	0.89469	.	0.104283	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000350531:E10X	E	-	1	0	STMN1	26102877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.717000	0.92951	0.655000	0.94253	GAA		0.393	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563		28	274	1	0	2.12542e-12	1	2.28249e-12	28	274					A	26230290	C	A	26230290	4	1	79	1	0	0	0	0	0	1	0	0	15360	922	32	3	584	3	STMN1	1	26230290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40933	26230290	223020331	333	10650											
PAFAH2	5051	broad.mit.edu	37	chr1	26301000	26301000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcctagactgttcatgCtgggcacatatcttcttcat	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	300					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTTCATGCTGGGCACATA	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(898-900)caG>caA		platelet-activating factor acetylhydrolase 2, 40kDa							116	106	110					1																	26301000		2203	4300	6503	SO:0001819	synonymous_variant	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301000C>T	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.900G>A	1.37:g.26301000C>T						PAFAH2_ENST00000374284.1_Silent_p.Q300Q	p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1079	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	300					D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	37	c.900G>A	CCDS270.1																																																																																				0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		29	181	0	0	0	1	0	29	181					T	26301000	C	T	26301000	2	4	79	1	0	0	0	0	0	0	0	1	11429	796	28	2		2	PAFAH2	1	26301000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70710	26301000	222949621	334	10651											
PAFAH2	5051	broad.mit.edu	37	chr1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgataaagaacacaggtcCtcgggccttggggtaaaagt	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	275					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGTCCTCGGGCCTTG	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(823-825)Gga>Tga		platelet-activating factor acetylhydrolase 2, 40kDa							97	90	93					1																	26301077		2203	4300	6503	SO:0001587	stop_gained	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301077C>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.823G>T	1.37:g.26301077C>A	ENSP00000363400:p.Gly275*					PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1002	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	275					D3DPK1|O15458|Q5SY02	Nonsense_Mutation	SNP	ENST00000374282.3	37	c.823G>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498422	0.97616	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	.	.	.	5.72	5.72	0.89469	.	0.212193	0.34652	N	0.003796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.367	8.43	0.32753	0.0:0.7621:0.1569:0.081	.	.	.	.	X	275	.	ENSP00000363400:G275X	G	-	1	0	PAFAH2	26173664	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	1.340000	0.33896	2.715000	0.92844	0.650000	0.86243	GGA		0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		18	207	1	0	3.41278e-10	1	3.61262e-10	18	207					A	26301077	C	A	26301077	4	1	79	1	0	0	0	0	0	1	0	0	11429	690	24	3	367	3	PAFAH2	1	26301077	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	26301077	222949544	335	10652											
PAFAH2	5051	broad.mit.edu	37	chr1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaaacactcgcttacccGctgatgcacctgcaacagag	8	15	0	2	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	188					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTTACCCGCTGATGCACC	0.527																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(562-564)Cgg>Tgg		platelet-activating factor acetylhydrolase 2, 40kDa		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87	74	79		562	0.8	1	1	dbSNP_134	79	0,8600		0,0,4300	no	missense	PAFAH2	NM_000437.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/393	26308959	1,13005	2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26308959G>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.562C>T	1.37:g.26308959G>A	ENSP00000363400:p.Arg188Trp					PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	7	741	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	188					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.562C>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352977	0.61293	2.27E-4	0.0	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.69561	-0.41;-0.41	5.63	0.757	0.18427	.	0.000000	0.64402	D	0.000012	T	0.81054	0.4743	M	0.82056	2.57	0.42507	D	0.99295	D	0.89917	1.0	D	0.91635	0.999	D	0.84883	0.0832	10	0.66056	D	0.02	-22.0736	15.874	0.79148	0.0:0.0:0.7012:0.2988	.	188	Q99487	PAFA2_HUMAN	W	188	ENSP00000363400:R188W;ENSP00000363402:R188W	ENSP00000363400:R188W	R	-	1	2	PAFAH2	26181546	0.998000	0.40836	0.991000	0.47740	0.484000	0.33280	0.355000	0.20163	0.565000	0.29255	0.563000	0.77884	CGG		0.527	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		49	140	0	0	0	1	0	49	140					A	26308959	G	A	26308959	3	1	79	1	0	0	0	0	1	0	0	0	11429	1086	38	1	636	1	PAFAH2	1	26308959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7882	26308959	222941662	336	10653											
EXTL1	2134	broad.mit.edu	37	chr1	26349754	26349754	+	Missense_Mutation	SNP	C	C	T													ttttctccctgaagcccaccCgttgcgaggtggggctcctg					rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	ENST00000374280.3	+	1	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGT	0.682													C|||	12	0.00239617	0.0068	0.0043	5008	,	,		16883	0.0		0.0	False		,,,				2504	0.0					ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(616-618)cCg>cTg		exostosin-like glycosyltransferase 1		C	LEU/PRO	29,4373		0,29,2172	16	18	17		617	5.4	1	1	dbSNP_134	17	1,8591		0,1,4295	yes	missense	EXTL1	NM_004455.2	98	0,30,6467	TT,TC,CC		0.0116,0.6588,0.2309	probably-damaging	206/677	26349754	30,12964	2201	4296	6497	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349754C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.617C>T	1.37:g.26349754C>T	ENSP00000363398:p.Pro206Leu					EXTL1_ENST00000484339.1_3'UTR	p.P206L	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1484	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	206					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.617C>T	CCDS271.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.849207	0.91277	0.006588	1.16E-4	ENSG00000158008	ENST00000374280	D	0.97665	-4.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.79805	2.47	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.96055	0.9034	10	0.59425	D	0.04	-13.5266	18.941	0.92605	0.0:1.0:0.0:0.0	.	206	Q92935	EXTL1_HUMAN	L	206	ENSP00000363398:P206L	ENSP00000363398:P206L	P	+	2	0	EXTL1	26222341	1.000000	0.71417	0.968000	0.41197	0.742000	0.42306	5.839000	0.69395	2.802000	0.96397	0.655000	0.94253	CCG		0.682	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		16	126	0	0	0	1	0	16	126					T	26349754	C	T	26349754	3	4	79	1	0	0	0	0	1	0	0	0	5343	652	23	1	619	1	EXTL1	1	26349754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40795	26349754	222900867	337	10654	69	2									
EXTL1	2134	broad.mit.edu	37	chr1	26349755	26349755	+	Silent	SNP	G	G	A													tttctccctgaagcccacccGttgcgaggtggggctcctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	ENST00000374280.3	+	1	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCCACCCGTTGCGAGGTG	0.687																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(616-618)ccG>ccA		exostosin-like glycosyltransferase 1							16	17	17					1																	26349755		2201	4295	6496	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349755G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.618G>A	1.37:g.26349755G>A						EXTL1_ENST00000484339.1_3'UTR	p.P206P	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	206					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.618G>A	CCDS271.1																																																																																				0.687	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		31	108	0	0	0	1	0	31	108					A	26349755	G	A	26349755	2	1	79	1	0	0	0	0	0	0	0	1	5343	1132	40	1		1	EXTL1	1	26349755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	26349755	222900866	338	10655	69	2									
EXTL1	2134	broad.mit.edu	37	chr1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaagaagtaccgcaGcctggagaagccctaggggg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	672					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(2014-2016)aGc>aTc		exostosin-like glycosyltransferase 1							33	32	32					1																	26361822		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26361822G>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.2015G>T	1.37:g.26361822G>T	ENSP00000363398:p.Ser672Ile						p.S672I	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	11	2882	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	672					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.2015G>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871983	0.72180	.	.	ENSG00000158008	ENST00000374280	D	0.95238	-3.65	4.67	2.5	0.30297	.	0.777423	0.12720	N	0.444807	D	0.90205	0.6938	L	0.54323	1.7	0.34908	D	0.74717	B	0.34103	0.437	B	0.28916	0.096	D	0.89961	0.4086	10	0.66056	D	0.02	-1.1405	5.0811	0.14656	0.456:0.0:0.544:0.0	.	672	Q92935	EXTL1_HUMAN	I	672	ENSP00000363398:S672I	ENSP00000363398:S672I	S	+	2	0	EXTL1	26234409	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.986000	0.49370	1.074000	0.40909	0.561000	0.74099	AGC		0.711	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		39	179	1	0	2.47872e-24	1	2.8326e-24	39	179					T	26361822	G	T	26361822	3	4	79	1	0	0	0	0	1	0	0	0	5343	971	34	3	2057	3	EXTL1	1	26361822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12067	26361822	222888799	339	10656											
TRIM63	84676	broad.mit.edu	37	chr1	26380400	26380400	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcttccttcccttcTgtggactcttcctcttcctg	4	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26380400T>G	ENST00000374272.3	-	8	1173	c.1035A>C	c.(1033-1035)acA>acC	p.T345T		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	345					cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCCTTCTGTGGACTCTT	0.428																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1033-1035)acA>acC		tripartite motif containing 63, E3 ubiquitin protein ligase							285	234	251					1																	26380400		2203	4300	6503	SO:0001819	synonymous_variant	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26380400T>G	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.1035A>C	1.37:g.26380400T>G							p.T345T	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	1173	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	345					B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	ENST00000374272.3	37	c.1035A>C	CCDS273.1																																																																																				0.428	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		9	441	0	0	0	1	0	9	441					G	26380400	T	G	26380400	2	3	79	1	0	0	0	0	0	0	0	1	16591	1567	55	4		4	TRIM63	1	26380400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18578	26380400	222870221	340	10657											
CNKSR1	10256	broad.mit.edu	37	chr1	26510587	26510587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaggtcctggactcccCgcaccagaggagcccatcac	9	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26510587C>T	ENST00000374253.5	+	10	941	c.902C>T	c.(901-903)cCg>cTg	p.P301L	CNKSR1_ENST00000531191.1_Missense_Mutation_p.P36L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	301	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGACTCCCCGCACCAGAGG	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(106-108)cCg>cTg		connector enhancer of kinase suppressor of Ras 1							79	81	80					1																	26510587		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510587C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.902C>T	1.37:g.26510587C>T	ENSP00000363371:p.Pro301Leu					CNKSR1_ENST00000374253.5_Missense_Mutation_p.P301L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L	p.P36L			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	9	1114	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	301			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.107C>T		.	.	.	.	.	.	.	.	.	.	c	10.75	1.437135	0.25900	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14766	2.51;2.54;2.48	4.39	3.47	0.39725	.	1.563930	0.03774	N	0.260213	T	0.12518	0.0304	L	0.29908	0.895	0.19945	N	0.999943	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.34079	-0.9843	10	0.15499	T	0.54	-1.527	10.9468	0.47306	0.0:0.9031:0.0:0.0969	.	301;294	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	294;301;36	ENSP00000354609:P294L;ENSP00000363371:P301L;ENSP00000431817:P36L	ENSP00000354609:P294L	P	+	2	0	CNKSR1	26383174	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	1.271000	0.33098	1.150000	0.42419	-0.215000	0.12644	CCG		0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		9	430	0	0	0	1	0	9	430					T	26510587	C	T	26510587	3	4	79	1	0	0	0	0	1	0	0	0	3615	652	23	1	919	1	CNKSR1	1	26510587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130187	26510587	222740034	341	10658											
CNKSR1	10256	broad.mit.edu	37	chr1	26511616	26511616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcttcatgggcccgcGctggcgccgccgctggtttg	18	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26511616G>A	ENST00000374253.5	+	14	1307	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.R158H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	423	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCCCGCGCTGGCGCCGC	0.667																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(472-474)cGc>cAc		connector enhancer of kinase suppressor of Ras 1							7	9	8					1																	26511616		2153	4192	6345	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26511616G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1268G>A	1.37:g.26511616G>A	ENSP00000363371:p.Arg423His					CNKSR1_ENST00000374253.5_Missense_Mutation_p.R423H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H	p.R158H			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	13	1480	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	423			CRIC.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.473G>A		.	.	.	.	.	.	.	.	.	.	G	17.77	3.472137	0.63737	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.119683	0.56097	N	0.000035	T	0.75332	0.3835	L	0.60455	1.87	0.40934	D	0.984419	D;D	0.57899	0.96;0.981	P;P	0.54401	0.727;0.751	T	0.76454	-0.2953	10	0.66056	D	0.02	-20.5718	5.6613	0.17670	0.3675:0.0:0.6325:0.0	.	423;416	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	416;423;158	ENSP00000354609:R416H;ENSP00000363371:R423H;ENSP00000431817:R158H	ENSP00000354609:R416H	R	+	2	0	CNKSR1	26384203	1.000000	0.71417	0.994000	0.49952	0.120000	0.20174	6.685000	0.74543	1.344000	0.45657	-0.145000	0.13849	CGC		0.667	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	41	0	0	0	1	0	7	41					A	26511616	G	A	26511616	3	1	79	1	0	0	0	0	1	0	0	0	3615	1087	38	1	1301	1	CNKSR1	1	26511616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1029	26511616	222739005	342	10659											
CATSPER4	378807	broad.mit.edu	37	chr1	26524884	26524884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcatcacccaggacggCtgggtggacatctacagtga	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGACGGCTGGGTGGACA	0.562																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(784-786)ggC>ggA		cation channel, sperm associated 4							121	116	118					1																	26524884		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524884C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.786C>A	1.37:g.26524884C>A							p.G262G	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	853	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	262					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.786C>A	CCDS30645.1																																																																																				0.562	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		24	655	1	0	1.10923e-09	1	1.16946e-09	24	655					A	26524884	C	A	26524884	2	1	79	1	0	0	0	0	0	0	0	1	2697	784	28	3		3	CATSPER4	1	26524884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13268	26524884	222725737	343	10660											
SH3BGRL3	83442	broad.mit.edu	37	chr1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcgaggtgacccgaatcCtggatgggaagcgcatccaa	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3	28	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of actin filament depolymerization (GO:0030834)|regulation of blood vessel endothelial cell migration (GO:0043535)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)|Rho GTPase activator activity (GO:0005100)|semaphorin receptor binding (GO:0030215)						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597																																						ENST00000270792.5																			0											c.(82-84)Ctg>Atg		SH3 domain binding glutamic acid-rich protein like 3							77	69	72					1																	26607289		2203	4300	6503	SO:0001583	missense	83442				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr1:26607289C>A	AJ297915	CCDS278.1	1p36.11	2014-02-19	2014-02-19		ENSG00000142669	ENSG00000142669			15568	protein-coding gene	gene with protein product		615679	"SH3 domain binding glutamic acid-rich protein like 3"				Standard	NM_031286		Approved		uc001blu.3	Q9H299	OTTHUMG00000003381	ENST00000270792.5:c.82C>A	1.37:g.26607289C>A	ENSP00000270792:p.Leu28Met					SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)	2	1062	+		all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	28			Glutaredoxin.		Q5T122	Missense_Mutation	SNP	ENST00000270792.5	37	c.82C>A	CCDS278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253796	0.95336	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	D;D	0.90385	-2.66;-2.66	6.08	6.08	0.98989	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	.	.	.	0.48087	D	0.999588	D	0.71674	0.998	D	0.73380	0.98	D	0.95096	0.8226	9	0.62326	D	0.03	-9.1582	20.6634	0.99662	0.0:1.0:0.0:0.0	.	28	Q9H299	SH3L3_HUMAN	M	28;161;28	ENSP00000270792:L28M;ENSP00000363358:L28M	ENSP00000270792:L28M	L	+	1	2	SH3BGRL3	26479876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.019000	0.70818	2.894000	0.99253	0.655000	0.94253	CTG		0.597	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009498.1			47	228	1	0	2.62258e-09	1	2.75829e-09	47	228					A	26607289	C	A	26607289	3	1	79	1	0	0	0	0	1	0	0	0	14293	680	24	3	88	3	SH3BGRL3	1	26607289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82405	26607289	222643332	344	10661											
CD52	1043	broad.mit.edu	37	chr1	26646758	26646758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattttccttttcttcgtgGccaatgccataatccacctc	5	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26646758G>A	ENST00000374213.2	+	2	212	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	UBXN11_ENST00000374222.1_5'Flank|UBXN11_ENST00000374217.2_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	51					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	TTTCTTCGTGGCCAATGCCAT	0.522																																						ENST00000374213.2																			0				large_intestine(1)	1						c.(151-153)Gcc>Acc		CD52 molecule	Alemtuzumab(DB00087)						193	170	178					1																	26646758		2203	4300	6503	SO:0001583	missense	1043				elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction		g.chr1:26646758G>A		CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"CD molecules"	1804	protein-coding gene	gene with protein product		114280	"CD52 antigen (CAMPATH-1 antigen)"	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.151G>A	1.37:g.26646758G>A	ENSP00000363330:p.Ala51Thr						p.A51T	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	2	212	+		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	51					Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	c.151G>A	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224247	0.39300	.	.	ENSG00000169442	ENST00000374213	T	0.48836	0.8	4.33	-5.08	0.02929	.	1.803160	0.03567	N	0.227998	T	0.31606	0.0802	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.27226	-1.0080	9	0.14656	T	0.56	.	14.6165	0.68552	0.2534:0.0:0.7466:0.0	.	51	P31358	CD52_HUMAN	T	51	ENSP00000363330:A51T	ENSP00000363330:A51T	A	+	1	0	CD52	26519345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.612000	0.05616	-1.066000	0.03164	-0.302000	0.09304	GCC		0.522	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		9	341	0	0	0	1	0	9	341					A	26646758	G	A	26646758	3	1	79	1	0	0	0	0	1	0	0	0	3031	1203	42	2	157	2	CD52	1	26646758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39469	26646758	222603863	345	10662											
ZNF683	257101	broad.mit.edu	37	chr1	26694242	26694242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctggcacaggatgggCcatgagcatccaccatgtct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26694242C>T	ENST00000436292.1	-	3	281	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	54					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACAGGATGGGCCATGAGCATC	0.652																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(160-162)gGc>gAc		zinc finger protein 683							28	25	26					1																	26694242		2203	4298	6501	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26694242C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.161G>A	1.37:g.26694242C>T	ENSP00000388792:p.Gly54Asp					ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D|ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D	p.G54D			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	3	281	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	54					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.161G>A		.	.	.	.	.	.	.	.	.	.	C	15.54	2.863087	0.51482	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.20738	3.28;3.28;3.22;3.22;2.39;2.39;2.05;2.06	4.27	2.24	0.28232	.	0.199248	0.25112	N	0.033056	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	P;B	0.36587	0.559;0.423	B;B	0.34931	0.192;0.094	T	0.18398	-1.0338	10	0.21540	T	0.41	-6.8636	5.184	0.15174	0.0:0.667:0.2116:0.1214	.	54;54	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	D	54;54;54;54;62;54;62;54	ENSP00000384782:G54D;ENSP00000388792:G54D;ENSP00000363320:G54D;ENSP00000344095:G54D;ENSP00000411289:G62D;ENSP00000411290:G54D;ENSP00000391584:G62D;ENSP00000401961:G54D	ENSP00000344095:G54D	G	-	2	0	ZNF683	26566829	0.001000	0.12720	0.047000	0.18901	0.678000	0.39670	0.021000	0.13489	0.993000	0.38866	0.462000	0.41574	GGC		0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		6	68	0	0	0	1	0	6	68					T	26694242	C	T	26694242	3	4	79	1	0	0	0	0	1	0	0	0	18143	739	26	2	1369	2	ZNF683	1	26694242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47484	26694242	222556379	346	10663											
DHDDS	79947	broad.mit.edu	37	chr1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaggtgacagtctacGcattcagcattgagaacttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000236342.7	+	4	322	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000360009.2_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	77					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(229-231)Gca>Aca		dehydrodolichyl diphosphate synthase							169	162	164					1																	26769270		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26769270G>A	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.229G>A	1.37:g.26769270G>A	ENSP00000236342:p.Ala77Thr					DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000236342.7_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T	p.A77T	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	4	306	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	77					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.229G>A	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511033	0.96386	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.26;-1.39	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.999;0.987;0.967	D	0.90213	0.4266	10	0.45353	T	0.12	-26.5302	19.3088	0.94175	0.0:0.0:1.0:0.0	.	77;77;77;77	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	T	45;77;77;77;77;77;77;77;77;77;77;77;77	ENSP00000399177:A77T;ENSP00000434984:A77T;ENSP00000236342:A77T;ENSP00000434219:A77T;ENSP00000363300:A77T;ENSP00000353104:A77T;ENSP00000436119:A77T;ENSP00000436764:A77T;ENSP00000434185:A77T;ENSP00000433976:A77T;ENSP00000397584:A77T	ENSP00000236342:A77T	A	+	1	0	DHDDS	26641857	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.762000	0.98944	2.809000	0.96659	0.655000	0.94253	GCA		0.522	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		132	474	0	0	0	1	0	132	474					A	26769270	G	A	26769270	3	1	79	1	0	0	0	0	1	0	0	0	4494	1087	38	1	239	1	DHDDS	1	26769270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75028	26769270	222481351	347	10664											
ARID1A	8289	broad.mit.edu	37	chr1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagattcatttgggtctcaGgcatcctcagccccctcaat	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000324856.7	+	4	2204	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1831-1833)caG>caT		AT rich interactive domain 1A (SWI-like)							138	121	127					1																	27059196		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059196G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1833G>T	1.37:g.27059196G>T	ENSP00000320485:p.Gln611His					ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	p.Q611H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2204	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	611					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1833G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332250	0.41297	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.38;4.18;4.22	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.57536	1.79	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.944	P;P;P	0.52217	0.497;0.693;0.497	T	0.04946	-1.0916	10	0.49607	T	0.09	-6.0683	9.9444	0.41600	0.151:0.0:0.849:0.0	.	611;611;265	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	611;611;228	ENSP00000320485:Q611H;ENSP00000387636:Q611H;ENSP00000363267:Q228H	ENSP00000320485:Q611H	Q	+	3	2	ARID1A	26931783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.698000	0.47068	2.592000	0.87571	0.491000	0.48974	CAG		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		52	290	1	0	9.72345e-25	1	1.11288e-24	52	290					T	27059196	G	T	27059196	3	4	79	1	0	0	0	0	1	0	0	0	913	991	35	3	1847	3	ARID1A	1	27059196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289926	27059196	222191425	348	10665											
ARID1A	8289	broad.mit.edu	37	chr1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggctaccccaatatgaatCaagggggcatgatgggaact	12	9	1	2	rs387906845		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2758-2760)Caa>Taa		AT rich interactive domain 1A (SWI-like)							85	84	85					1																	27092737		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092737C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2758C>T	1.37:g.27092737C>T	ENSP00000320485:p.Gln920*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	p.Q920*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	9	3129	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	920					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2758C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423699	0.99166	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;537	.	ENSP00000320485:Q920X	Q	+	1	0	ARID1A	26965324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	CAA		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		57	201	0	0	0	1	0	57	201					T	27092737	C	T	27092737	4	4	79	1	0	0	0	0	0	1	0	0	913	827	29	2	2792	2	ARID1A	1	27092737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33541	27092737	222157884	349	10666											
ARID1A	8289	broad.mit.edu	37	chr1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaaccagtatggcaatgCctatcctgccactgccacag	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000324856.7	+	18	4672	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1434					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4300-4302)gCc>gTc		AT rich interactive domain 1A (SWI-like)							67	68	68					1																	27101019		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101019C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4301C>T	1.37:g.27101019C>T	ENSP00000320485:p.Ala1434Val					ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	p.A1434V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4672	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1434					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4301C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372725	0.61624	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02863	4.29;4.13	5.54	5.54	0.83059	.	0.194762	0.38605	N	0.001636	T	0.02455	0.0075	N	0.14661	0.345	0.80722	D	1	P;P;B	0.48764	0.822;0.915;0.278	B;B;B	0.35039	0.194;0.164;0.057	T	0.61352	-0.7080	10	0.56958	D	0.05	-4.606	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1051;1434;1087	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	V	1434;1051	ENSP00000320485:A1434V;ENSP00000363267:A1051V	ENSP00000320485:A1434V	A	+	2	0	ARID1A	26973606	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.890000	0.99128	0.650000	0.86243	GCC		0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		108	382	0	0	0	1	0	108	382					T	27101019	C	T	27101019	3	4	79	1	0	0	0	0	1	0	0	0	913	739	26	2	4371	2	ARID1A	1	27101019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8282	27101019	222149602	350	10667											
ARID1A	8289	broad.mit.edu	37	chr1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagccagcttcagagAatagtgaggagaagctgatc	13	7	1	4	rs551963483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000324856.7	+	20	5769	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1800					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5398-5400)Aat>Tat		AT rich interactive domain 1A (SWI-like)							69	61	64					1																	27105787		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105787A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5398A>T	1.37:g.27105787A>T	ENSP00000320485:p.Asn1800Tyr					ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	p.N1800Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5769	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1800					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5398A>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.46|14.46	2.542364|2.542364	0.45280|0.45280	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T|T;T;T;T	0.03607|0.10099	3.87|4.47;4.29;4.29;2.91	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.896432	.|0.10149	.|N	.|0.709919	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.34521|0.34521	1.04|1.04	0.38307|0.38307	D|D	0.943141|0.943141	.|B;B;B	.|0.31351	.|0.143;0.086;0.32	.|B;B;B	.|0.34931	.|0.048;0.045;0.192	T|T	0.19418|0.19418	-1.0306|-1.0306	7|10	0.87932|0.59425	D|D	0|0.04	-0.7307|-0.7307	6.2998|6.2998	0.21107|0.21107	0.7827:0.0:0.0757:0.1416|0.7827:0.0:0.0757:0.1416	.|.	.|1417;1800;1583	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|Y	696|1800;1583;1417;128	ENSP00000390317:E696V|ENSP00000320485:N1800Y;ENSP00000387636:N1583Y;ENSP00000363267:N1417Y;ENSP00000442437:N128Y	ENSP00000390317:E696V|ENSP00000320485:N1800Y	E|N	+|+	2|1	0|0	ARID1A|ARID1A	26978374|26978374	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	3.771000|3.771000	0.55318|0.55318	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAA|AAT		0.433	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		34	286	0	0	0	1	0	34	286					T	27105787	A	T	27105787	3	4	79	1	0	0	0	0	1	0	0	0	913	246	9	5	5476	5	ARID1A	1	27105787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	27105787	222144834	351	10668											
FAM46B	115572	broad.mit.edu	37	chr1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaggcaggccagcaccActgccttggtcagctggaag	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	146										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCAGCACCACTGCCTTGGT	0.617																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(436-438)gTg>gCg		family with sequence similarity 46, member B							109	98	102					1																	27333276		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27333276A>G	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.437T>C	1.37:g.27333276A>G	ENSP00000289166:p.Val146Ala						p.V146A	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	602	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	146						Missense_Mutation	SNP	ENST00000289166.5	37	c.437T>C	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	8.981	0.975371	0.18736	.	.	ENSG00000158246	ENST00000289166	T	0.24350	1.86	5.33	4.19	0.49359	Domain of unknown function DUF1693 (1);	0.114322	0.64402	D	0.000013	T	0.12220	0.0297	N	0.12746	0.255	0.50171	D	0.999854	B	0.14438	0.01	B	0.25405	0.06	T	0.09952	-1.0651	10	0.07175	T	0.84	-34.6345	8.621	0.33861	0.847:0.0:0.153:0.0	.	146	Q96A09	FA46B_HUMAN	A	146	ENSP00000289166:V146A	ENSP00000289166:V146A	V	-	2	0	FAM46B	27205863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.232000	0.73038	0.533000	0.62120	GTG		0.617	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		113	417	0	0	0	1	0	113	417					G	27333276	A	G	27333276	3	3	79	1	0	0	0	0	1	0	0	0	5591	159	6	4	844	4	FAM46B	1	27333276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227489	27333276	221917345	352	10669											
SLC9A1	6548	broad.mit.edu	37	chr1	27427125	27427125	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctccttcggctcataGgccagtgggtctggggacca	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	707					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2119-2121)gcC>gcA		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						110	110	110					1																	27427125		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427125G>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2121C>A	1.37:g.27427125G>T						SLC9A1_ENST00000545949.1_Silent_p.A368A	p.A707A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2696	-			707					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.2121C>A	CCDS295.1																																																																																				0.642	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		105	826	1	0	1.32035e-51	1	1.6395e-51	105	826					T	27427125	G	T	27427125	2	4	79	1	0	0	0	0	0	0	0	1	14759	987	35	3		3	SLC9A1	1	27427125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93849	27427125	221823496	353	10670											
SLC9A1	6548	broad.mit.edu	37	chr1	27429187	27429187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttccagtggtggtgaccGtagtggccacagatgtcttc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	541					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1621-1623)taC>taT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						65	61	62					1																	27429187		2202	4300	6502	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27429187G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1623C>T	1.37:g.27429187G>A			OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	794	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	p.Y541Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	7	2198	-			541					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.1623C>T	CCDS295.1																																																																																				0.647	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		13	127	0	0	0	1	0	13	127					A	27429187	G	A	27429187	2	1	79	1	0	0	0	0	0	0	0	1	14759	1140	40	1		1	SLC9A1	1	27429187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2062	27429187	221821434	354	10671											
WDTC1	23038	broad.mit.edu	37	chr1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacaggccaaccagcggCgcatgaatgcagacccgttg	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000319394.3	+	16	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	634					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACCAGCGGCGCATGAATGC	0.612																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1900-1902)Cgc>Tgc		WD and tetratricopeptide repeats 1							92	81	85					1																	27632740		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27632740C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1900C>T	1.37:g.27632740C>T	ENSP00000317971:p.Arg634Cys					WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	p.R634C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	16	2435	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	634					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1900C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.145582	0.94603	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67698	-0.28;-0.27	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78846	-0.2043	10	0.72032	D	0.01	.	17.3843	0.87412	0.0:1.0:0.0:0.0	.	634;633	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	C	634;633	ENSP00000317971:R634C;ENSP00000355317:R633C	ENSP00000317971:R634C	R	+	1	0	WDTC1	27505327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.654000	0.90174	0.655000	0.94253	CGC		0.612	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		86	316	0	0	0	1	0	86	316					T	27632740	C	T	27632740	3	4	79	1	0	0	0	0	1	0	0	0	17396	768	27	1	1955	1	WDTC1	1	27632740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203553	27632740	221617881	355	10672											
SYTL1	84958	broad.mit.edu	37	chr1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagggccgcgtgctgaGcctgtctgtgtggcaccgcg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000543823.1	+	10	1508	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	349	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1045-1047)aGc>aTc		synaptotagmin-like 1							63	57	59					1																	27677325		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677325G>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1046G>T	1.37:g.27677325G>T	ENSP00000440704:p.Ser349Ile					SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR	p.S349I			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1508	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	349			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.1046G>T	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499008|3.499008	0.64298|0.64298	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	4.49|4.49	3.49|3.49	0.39957|0.39957	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.153666	.|0.64402	.|D	.|0.000020	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.10645|0.10645	0.015|0.015	0.39697|0.39697	D|D	0.971122|0.971122	.|B;B	.|0.26512	.|0.151;0.041	.|B;B	.|0.42087	.|0.375;0.036	T|T	0.55509|0.55509	-0.8130|-0.8130	5|10	.|0.87932	.|D	.|0	-11.2352|-11.2352	4.4517|4.4517	0.11624|0.11624	0.2925:0.0:0.7075:0.0|0.2925:0.0:0.7075:0.0	.|.	.|349;337	.|Q8IYJ3;Q8IYJ3-2	.|SYTL1_HUMAN;.	S|I	197|337;349;102	.|ENSP00000316464:S337I;ENSP00000440704:S349I	.|ENSP00000316464:S337I	A|S	+|+	1|2	0|0	SYTL1|SYTL1	27549912|27549912	0.232000|0.232000	0.23762|0.23762	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.848000|0.848000	0.27710|0.27710	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GCC|AGC		0.647	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		32	274	1	0	5.90632e-09	1	6.19411e-09	32	274					T	27677325	G	T	27677325	3	4	79	1	0	0	0	0	1	0	0	0	15534	971	34	3	1048	3	SYTL1	1	27677325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44585	27677325	221573296	356	10673											
SYTL1	84958	broad.mit.edu	37	chr1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctccccctgcagcccCgggtgaggcagccaggccgc	14	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000543823.1	+	10	1624	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	388					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1162-1164)Cgg>Tgg		synaptotagmin-like 1							33	31	32					1																	27677441		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677441C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1162C>T	1.37:g.27677441C>T	ENSP00000440704:p.Arg388Trp					SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR	p.R388W			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1624	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	388					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.1162C>T	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881040	0.72294	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08634	3.07;3.07	4.76	4.76	0.60689	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00473	-1.1718	10	0.87932	D	0	-31.7094	10.4168	0.44327	0.3059:0.6941:0.0:0.0	.	388;376	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	W	376;388;141	ENSP00000316464:R376W;ENSP00000440704:R388W	ENSP00000316464:R376W	R	+	1	2	SYTL1	27550028	0.139000	0.22563	1.000000	0.80357	0.596000	0.36781	0.533000	0.23082	2.487000	0.83934	0.456000	0.33151	CGG		0.692	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		26	213	0	0	0	1	0	26	213					T	27677441	C	T	27677441	3	4	79	1	0	0	0	0	1	0	0	0	15534	643	23	1	1164	1	SYTL1	1	27677441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	27677441	221573180	357	10674											
FCN3	8547	broad.mit.edu	37	chr1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagaacttgcccagtgCcagctggtagtggtctacct	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	210	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(628-630)Gca>Aca		ficolin (collagen/fibrinogen domain containing) 3							112	109	110					1																	27697117		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697117C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.628G>A	1.37:g.27697117C>T	ENSP00000270879:p.Ala210Thr					FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	p.A210T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	633	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	210			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.628G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753229	0.15778	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76448	-1.02;-1.02	5.26	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.227220	0.06133	N	0.671032	T	0.48259	0.1490	N	0.01438	-0.865	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.006	T	0.38802	-0.9644	10	0.21014	T	0.42	.	2.1015	0.03681	0.1596:0.5091:0.1551:0.1763	.	199;210	Q6UXM4;O75636	.;FCN3_HUMAN	T	210;199;88	ENSP00000270879:A210T;ENSP00000347077:A199T	ENSP00000270879:A210T	A	-	1	0	FCN3	27569704	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.305000	0.08188	0.295000	0.22570	0.558000	0.71614	GCA		0.587	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			107	400	0	0	0	1	0	107	400					T	27697117	C	T	27697117	3	4	79	1	0	0	0	0	1	0	0	0	5818	739	26	2	279	2	FCN3	1	27697117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19676	27697117	221553504	358	10675											
GPR3	2827	broad.mit.edu	37	chr1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcttggagcctttgccGcctgctggttgcccttcact	12	13	1	0	rs369420552		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	258					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(772-774)Gcc>Acc		G protein-coupled receptor 3							189	149	162					1																	27721074		2203	4300	6503	SO:0001583	missense	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27721074G>A	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.772G>A	1.37:g.27721074G>A	ENSP00000363136:p.Ala258Thr						p.A258T	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	871	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	258					A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	c.772G>A	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464925	0.43839	.	.	ENSG00000181773	ENST00000374024	T	0.37752	1.18	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.213027	0.40728	N	0.001024	T	0.33789	0.0875	M	0.72894	2.215	0.37667	D	0.923006	B	0.30439	0.279	B	0.23150	0.044	T	0.33954	-0.9848	10	0.44086	T	0.13	.	8.9616	0.35851	0.0761:0.0:0.7367:0.1872	.	258	P46089	GPR3_HUMAN	T	258	ENSP00000363136:A258T	ENSP00000363136:A258T	A	+	1	0	GPR3	27593661	0.993000	0.37304	0.980000	0.43619	0.990000	0.78478	2.228000	0.42981	2.804000	0.96469	0.462000	0.41574	GCC		0.607	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		77	300	0	0	0	1	0	77	300					A	27721074	G	A	27721074	3	1	79	1	0	0	0	0	1	0	0	0	6715	1087	38	1	774	1	GPR3	1	27721074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23957	27721074	221529547	359	10676											
WASF2	10163	broad.mit.edu	37	chr1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttctttggactccaCaaattcttgccccatcttca	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	213					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(637-639)Gtg>Atg		WAS protein family, member 2							272	246	255					1																	27741358		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27741358C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.637G>A	1.37:g.27741358C>T	ENSP00000396211:p.Val213Met					WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	6	852	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	213					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.637G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407806	0.42715	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.43688	0.94;0.94	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.79784	0.993;0.437	T	0.44922	-0.9296	10	0.40728	T	0.16	-7.0889	12.7663	0.57393	0.0:0.9206:0.0:0.0793	.	213;213	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	M	213	ENSP00000396211:V213M;ENSP00000439883:V213M	ENSP00000396211:V213M	V	-	1	0	WASF2	27613945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.484000	0.48361	0.491000	0.48974	GTG		0.443	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		33	586	0	0	0	1	0	33	586					T	27741358	C	T	27741358	3	4	79	1	0	0	0	0	1	0	0	0	17307	478	17	2	875	2	WASF2	1	27741358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20284	27741358	221509263	360	10677											
AHDC1	27245	broad.mit.edu	37	chr1	27876902	27876902	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggccatggtggccgcTgccacagtggctgcctcggc	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000247087.5	-	5	2321	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000374011.2_Silent_p.A575A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	575							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1723-1725)gcA>gcG		AT hook, DNA binding motif, containing 1							31	31	31					1																	27876902		2200	4297	6497	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27876902T>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1725A>G	1.37:g.27876902T>C						AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.A575A	p.A575A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2693	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	575					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.1725A>G	CCDS30652.1																																																																																				0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			58	243	0	0	0	1	0	58	243					C	27876902	T	C	27876902	2	2	79	1	0	0	0	0	0	0	0	1	412	1567	55	4		4	AHDC1	1	27876902	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135544	27876902	221373719	361	10678											
AHDC1	27245	broad.mit.edu	37	chr1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaaggatgtcggcgtcaGcaagttctgagtaatcagtg	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000247087.5	-	5	1315	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	240	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(718-720)gCt>gTt		AT hook, DNA binding motif, containing 1							41	47	45					1																	27877908		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27877908G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.719C>T	1.37:g.27877908G>A	ENSP00000247087:p.Ala240Val					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.A240V	p.A240V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1687	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	240			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.719C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110079	0.77210	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49139	0.79;0.79	5.16	4.24	0.50183	.	0.000000	0.34314	U	0.004067	T	0.30885	0.0779	N	0.19112	0.55	0.36790	D	0.884808	B	0.26602	0.154	B	0.20955	0.032	T	0.36163	-0.9759	10	0.56958	D	0.05	-6.5369	10.2596	0.43419	0.0938:0.0:0.9062:0.0	.	240	Q5TGY3	AHDC1_HUMAN	V	240	ENSP00000247087:A240V;ENSP00000363123:A240V	ENSP00000247087:A240V	A	-	2	0	AHDC1	27750495	0.998000	0.40836	0.581000	0.28614	0.797000	0.45037	3.824000	0.55723	2.407000	0.81776	0.467000	0.42956	GCT		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			53	263	0	0	0	1	0	53	263					A	27877908	G	A	27877908	3	1	79	1	0	0	0	0	1	0	0	0	412	971	34	2	4096	2	AHDC1	1	27877908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	27877908	221372713	362	10679											
FGR	2268	broad.mit.edu	37	chr1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgttccatggcctcgtAcagggatgctgggcagcctg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1462-1464)Tac>Cac		feline Gardner-Rasheed sarcoma viral oncogene homolog							84	71	76					1																	27939553		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27939553A>G	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1462T>C	1.37:g.27939553A>G	ENSP00000363117:p.Tyr488His					FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H	p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	13	1750	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	488			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1462T>C	CCDS305.1	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743203	0.03088	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.89	3.75	0.43078	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.126247	0.34531	N	0.003890	D	0.84897	0.5574	L	0.55017	1.72	0.29442	N	0.85912	P	0.48294	0.908	P	0.54238	0.746	T	0.77115	-0.2707	10	0.22706	T	0.39	.	7.4482	0.27223	0.8264:0.0:0.1736:0.0	.	488	P09769	FGR_HUMAN	H	488;422;488;488;488	ENSP00000363117:Y488H;ENSP00000445302:Y422H;ENSP00000382126:Y488H;ENSP00000363116:Y488H;ENSP00000363115:Y488H	ENSP00000363115:Y488H	Y	-	1	0	FGR	27812140	1.000000	0.71417	0.324000	0.25361	0.033000	0.12548	6.332000	0.72934	0.807000	0.34208	0.478000	0.44815	TAC		0.597	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		24	263	0	0	0	1	0	24	263					G	27939553	A	G	27939553	3	3	79	1	0	0	0	0	1	0	0	0	5899	391	14	4	131	4	FGR	1	27939553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61645	27939553	221311068	363	10680											
STX12	23673	broad.mit.edu	37	chr1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactccacaaatcagctcGccaaggaaacaaatgaattg	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	74					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCAGCTCGCCAAGGAAAC	0.388																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(220-222)Gcc>Acc		syntaxin 12							141	127	132					1																	28120075		2203	4300	6503	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28120075G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.220G>A	1.37:g.28120075G>A	ENSP00000363054:p.Ala74Thr					STX12_ENST00000468761.1_3'UTR	p.A74T	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	3	345	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	74					B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.220G>A	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398737	0.96030	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.32272	1.46	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.86028	2.79	0.44012	D	0.996725	D	0.63046	0.992	D	0.66979	0.948	T	0.65557	-0.6139	10	0.56958	D	0.05	-3.8443	19.3786	0.94521	0.0:0.0:1.0:0.0	.	74	Q86Y82	STX12_HUMAN	T	74	ENSP00000363054:A74T	ENSP00000363054:A74T	A	+	1	0	STX12	27992662	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GCC		0.388	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		9	228	0	0	0	1	0	9	228					A	28120075	G	A	28120075	3	1	79	1	0	0	0	0	1	0	0	0	15390	1087	38	1	230	1	STX12	1	28120075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180522	28120075	221130546	364	10681											
C1orf38	9473	broad.mit.edu	37	chr1	28206557	28206557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgagatccaagccaTcatgcacagtgagttgcctg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28206557T>C	ENST00000373921.3	+	3	642	c.638T>C	c.(637-639)aTc>aCc	p.I213T	THEMIS2_ENST00000328928.7_Missense_Mutation_p.I213T|THEMIS2_ENST00000373925.1_Missense_Mutation_p.I213T|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	213	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATCCAAGCCATCATGCACAGT	0.622																																						ENST00000373921.3																			0											c.(637-639)aTc>aCc		thymocyte selection associated family member 2							35	30	32					1																	28206557		2203	4300	6503	SO:0001583	missense	9473							g.chr1:28206557T>C	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.638T>C	1.37:g.28206557T>C	ENSP00000363031:p.Ile213Thr					THEMIS2_ENST00000328928.7_Missense_Mutation_p.I213T|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Missense_Mutation_p.I213T	p.I213T	NM_001105556.1	NP_001099026.1					3	642	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.638T>C	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.10|17.10	3.302632|3.302632	0.60195|0.60195	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.14640|.	2.49;2.49|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.162316|.	0.52532|.	D|.	0.000075|.	T|T	0.65565|0.65565	0.2703|0.2703	M|M	0.64404|0.64404	1.975|1.975	0.39996|0.39996	D|D	0.975107|0.975107	D;P;P|.	0.89917|.	1.0;0.856;0.865|.	D;P;P|.	0.87578|.	0.998;0.657;0.521|.	T|T	0.66571|0.66571	-0.5890|-0.5890	10|5	0.36615|.	T|.	0.2|.	-32.1567|-32.1567	12.6325|12.6325	0.56665|0.56665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213;213|.	Q5TEJ8-5;Q5TEJ8;Q5TEJ8-2|.	.;THMS2_HUMAN;.|.	T|P	213|106	ENSP00000329862:I213T;ENSP00000363031:I213T|.	ENSP00000329862:I213T|.	I|S	+|+	2|1	0|0	C1orf38|C1orf38	28079144|28079144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.132000|3.132000	0.50523|0.50523	1.930000|1.930000	0.55929|0.55929	0.459000|0.459000	0.35465|0.35465	ATC|TCA		0.622	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		5	95	0	0	0	1	0	5	95					C	28206557	T	C	28206557	3	2	79	1	0	0	0	0	1	0	0	0	2046	1435	50	4	648	4	C1orf38	1	28206557	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86482	28206557	221044064	365	10682											
RPA2	6118	broad.mit.edu	37	chr1	28218701	28218701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgtggatttaaaatgGtcatcatccacagtagaata	8	7	3	1	rs367687334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000373909.3_Silent_p.D270D|RPA2_ENST00000313433.7_Silent_p.D350D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	262	Asp/Glu-rich (acidic).|Interaction with RAD52, TIPIN, UNG and XPA.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(784-786)gaC>gaT	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							115	108	111					1																	28218701		2203	4300	6503	SO:0001819	synonymous_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28218701G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.786C>T	1.37:g.28218701G>A						RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	p.D262D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	9	1085	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	262			Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).		Q52II0|Q5TEI9|Q5TEJ5	Silent	SNP	ENST00000373912.3	37	c.786C>T	CCDS314.1																																																																																				0.403	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		46	405	0	0	0	1	0	46	405					A	28218701	G	A	28218701	2	1	79	1	0	0	0	0	0	0	0	1	13587	1252	44	2		2	RPA2	1	28218701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12144	28218701	221031920	366	10683											
XKR8	55113	broad.mit.edu	37	chr1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctttctccagaggggtAtcagctgcctcagaacaggc	11	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	366					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(1096-1098)tAt>tGt		XK, Kell blood group complex subunit-related family, member 8							51	52	51					1																	28293620		2203	4300	6503	SO:0001583	missense	55113					integral to membrane		g.chr1:28293620A>G	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1097A>G	1.37:g.28293620A>G	ENSP00000362991:p.Tyr366Cys						p.Y366C	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1705	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	366						Missense_Mutation	SNP	ENST00000373884.5	37	c.1097A>G	CCDS315.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144827	0.21288	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	-4.13	0.03904	.	22.119600	0.00864	U	0.001946	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	9	0.44086	T	0.13	.	7.3174	0.26507	0.6509:0.1791:0.17:0.0	.	366	Q9H6D3	XKR8_HUMAN	C	366	.	ENSP00000362991:Y366C	Y	+	2	0	XKR8	28166207	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.918000	0.01574	-0.592000	0.05851	-0.462000	0.05337	TAT		0.587	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		39	360	0	0	0	1	0	39	360					G	28293620	A	G	28293620	3	3	79	1	0	0	0	0	1	0	0	0	17491	449	16	4	1107	4	XKR8	1	28293620	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74919	28293620	220957001	367	10684											
SESN2	83667	broad.mit.edu	37	chr1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttccaggcagcctatagcCtcacctacaataccatcgcc	6	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	373					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1117-1119)Ctc>Atc		sestrin 2							115	94	101					1																	28601432		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601432C>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1117C>A	1.37:g.28601432C>A	ENSP00000253063:p.Leu373Ile						p.L373I	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1438	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	373					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1117C>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671385	0.67814	.	.	ENSG00000130766	ENST00000253063	T	0.39787	1.06	5.18	2.27	0.28462	.	0.067603	0.64402	D	0.000018	T	0.50616	0.1626	M	0.82132	2.575	0.58432	D	0.999999	P	0.51240	0.943	P	0.49421	0.61	T	0.54801	-0.8239	10	0.56958	D	0.05	-16.154	9.5751	0.39452	0.0:0.7637:0.0:0.2363	.	373	P58004	SESN2_HUMAN	I	373	ENSP00000253063:L373I	ENSP00000253063:L373I	L	+	1	0	SESN2	28474019	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	0.689000	0.31550	0.655000	0.94253	CTC		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			13	305	1	0	0.00010058	1	0.000102273	13	305					A	28601432	C	A	28601432	3	1	79	1	0	0	0	0	1	0	0	0	14175	681	24	3	1147	3	SESN2	1	28601432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307812	28601432	220649189	368	10685											
SESN2	83667	broad.mit.edu	37	chr1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagccgctctgctgtacgCcctccgtgccatcacccgct	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	471					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1411-1413)gCc>gTc		sestrin 2							114	98	103					1																	28607282		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28607282C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1412C>T	1.37:g.28607282C>T	ENSP00000253063:p.Ala471Val						p.A471V	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	10	1733	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	471					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1412C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787552	0.90367	.	.	ENSG00000130766	ENST00000253063	T	0.25414	1.8	4.74	4.74	0.60224	.	0.472269	0.23563	N	0.046836	T	0.43500	0.1250	M	0.73430	2.235	0.52501	D	0.999954	P	0.52170	0.951	P	0.55011	0.766	T	0.41215	-0.9521	10	0.66056	D	0.02	-11.054	12.5017	0.55960	0.0:0.8311:0.1689:0.0	.	471	P58004	SESN2_HUMAN	V	471	ENSP00000253063:A471V	ENSP00000253063:A471V	A	+	2	0	SESN2	28479869	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.541000	0.53618	2.461000	0.83175	0.555000	0.69702	GCC		0.617	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			33	382	0	0	0	1	0	33	382					T	28607282	C	T	28607282	3	4	79	1	0	0	0	0	1	0	0	0	14175	739	26	2	1450	2	SESN2	1	28607282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5850	28607282	220643339	369	10686											
PHACTR4	65979	broad.mit.edu	37	chr1	28800249	28800249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgggctcggaactactacCaatgatctcacctcgctctc	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28800249C>T	ENST00000373839.3	+	7	1268	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	336	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTACTACCAATGATCTCA	0.527																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1006-1008)cCa>cTa		phosphatase and actin regulator 4							199	205	203					1																	28800249		2084	4207	6291	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800249C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1007C>T	1.37:g.28800249C>T	ENSP00000362945:p.Pro336Leu					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L	p.P336L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1268	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	336			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1007C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701916	0.00725	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23754	1.92;1.89	5.64	-1.54	0.08584	.	1.460140	0.04085	N	0.310320	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.16420	T	0.52	1.6241	5.8643	0.18767	0.1764:0.5245:0.0:0.299	.	346;336	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	L	336;346;335	ENSP00000362945:P336L;ENSP00000362942:P346L	ENSP00000362942:P346L	P	+	2	0	PHACTR4	28672836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.057000	0.16193	-0.355000	0.07637	CCA		0.527	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		14	831	0	0	0	1	0	14	831					T	28800249	C	T	28800249	3	4	79	1	0	0	0	0	1	0	0	0	11854	594	21	2	1079	2	PHACTR4	1	28800249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192967	28800249	220450372	370	10687											
PHACTR4	65979	broad.mit.edu	37	chr1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagtggaatgaaatacGgcaccagattggaaacacac	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PHACTR4_ENST00000493669.1_3'UTR|RNU6ATAC27P_ENST00000408289.1_RNA|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AATGAAATACGGCACCAGATT	0.423																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1732-1734)cGg>cAg		phosphatase and actin regulator 4							224	206	212					1																	28807089		2000	4169	6169	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28807089G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1733G>A	1.37:g.28807089G>A	ENSP00000362945:p.Arg578Gln					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	p.R578Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	9	1994	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	578					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1733G>A	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775338	0.90108	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.39229	1.11;1.09	5.62	4.71	0.59529	.	0.112912	0.64402	D	0.000010	T	0.65144	0.2663	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.73708	0.966;0.981	T	0.70389	-0.4885	10	0.72032	D	0.01	-4.0794	13.5134	0.61526	0.075:0.0:0.925:0.0	.	588;578	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Q	578;588;577	ENSP00000362945:R578Q;ENSP00000362942:R588Q	ENSP00000362942:R588Q	R	+	2	0	PHACTR4	28679676	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.913000	0.87471	1.379000	0.46325	-0.234000	0.12200	CGG		0.423	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		67	680	0	0	0	1	0	67	680					A	28807089	G	A	28807089	3	1	79	1	0	0	0	0	1	0	0	0	11854	1116	39	1	1813	1	PHACTR4	1	28807089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6840	28807089	220443532	371	10688											
RCC1	1104	broad.mit.edu	37	chr1	28857092	28857092	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgccaaggtgcctGcgggccgagccctcctgacc	12	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28857092G>A	ENST00000373833.6	+	5	358				RCC1_ENST00000373831.3_Missense_Mutation_p.C44Y|RCC1_ENST00000398958.2_Intron|RCC1_ENST00000373832.1_Intron			P18754	RCC1_HUMAN	regulator of chromosome condensation 1						chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGCCTGCGGGCCGAGC	0.706																																						ENST00000373831.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(130-132)tGc>tAc		regulator of chromosome condensation 1							11	15	14					1																	28857092		2039	4155	6194	SO:0001627	intron_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28857092G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.73+641G>A	1.37:g.28857092G>A						RCC1_ENST00000373832.1_Intron|RCC1_ENST00000373833.6_Intron|RCC1_ENST00000398958.2_Intron	p.C44Y	NM_001048194.2|NM_001048195.2	NP_001041659.1|NP_001041660.1	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	3	192	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	24					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.131G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.343900	0.00222	.	.	ENSG00000180198	ENST00000373831	T	0.51817	0.69	3.96	-0.458	0.12182	.	0.459220	0.18704	N	0.133499	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	9	0.40728	T	0.16	-2.1516	3.6345	0.08143	0.3744:0.1895:0.4361:0.0	.	44	P18754-2	.	Y	44	ENSP00000362937:C44Y	ENSP00000362937:C44Y	C	+	2	0	RCC1	28729679	0.020000	0.18652	0.011000	0.14972	0.042000	0.13812	-0.033000	0.12246	-0.057000	0.13199	0.609000	0.83330	TGC		0.706	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		15	151	0	0	0	1	0	15	151					A	28857092	G	A	28857092	1	1	79	0	1	0	0	0	0	0	0	0	13223	1319	46	2		2	RCC1	1	28857092	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50003	28857092	220393529	372	10689											
RCC1	1104	broad.mit.edu	37	chr1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgggctgagtatgggCggctgggccttggagagggt	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	325					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTATGGGCGGCTGGGCCT	0.612																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(973-975)Cgg>Tgg		regulator of chromosome condensation 1							97	98	97					1																	28863294		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863294C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.973C>T	1.37:g.28863294C>T	ENSP00000362939:p.Arg325Trp					RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W	p.R325W			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	12	1258	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	325					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.973C>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532939	0.85812	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.8	4.88	0.63580	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.95328	3.655	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	0.95339	0.8436	10	0.87932	D	0	-19.6537	12.7877	0.57516	0.2978:0.7022:0.0:0.0	.	356;342;325	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	325;325;325;356;342	ENSP00000381931:R325W;ENSP00000362939:R325W;ENSP00000362938:R325W;ENSP00000362937:R356W;ENSP00000413644:R342W	ENSP00000362937:R356W	R	+	1	2	RCC1	28735881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.097000	0.50251	1.423000	0.47198	0.655000	0.94253	CGG		0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		132	543	0	0	0	1	0	132	543					T	28863294	C	T	28863294	3	4	79	1	0	0	0	0	1	0	0	0	13223	759	27	1	1100	1	RCC1	1	28863294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6202	28863294	220387327	373	10690											
TRNAU1AP	54952	broad.mit.edu	37	chr1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtattccctctttgtggggGacctgaccccggacgtggat	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	102	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(304-306)Gac>Tac		tRNA selenocysteine 1 associated protein 1							163	152	156					1																	28891240		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28891240G>T		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.304G>T	1.37:g.28891240G>T	ENSP00000362936:p.Asp102Tyr					TRNAU1AP_ENST00000495995.1_3'UTR	p.D102Y	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN			5	330	+			102			RRM 2.		Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.304G>T	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085489	0.94100	.	.	ENSG00000180098	ENST00000373830	T	0.16457	2.34	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092822	0.64402	D	0.000001	T	0.39253	0.1071	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03684	-1.1013	10	0.87932	D	0	.	17.0453	0.86500	0.0:0.0:1.0:0.0	.	102	Q9NX07	TSAP1_HUMAN	Y	102	ENSP00000362936:D102Y	ENSP00000362936:D102Y	D	+	1	0	TRNAU1AP	28763827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.814000	0.96858	0.655000	0.94253	GAC		0.512	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		45	452	1	0	1.48734e-19	1	1.65976e-19	45	452					T	28891240	G	T	28891240	3	4	79	1	0	0	0	0	1	0	0	0	16625	1174	41	3	322	3	TRNAU1AP	1	28891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27946	28891240	220359381	374	10691											
GMEB1	10691	broad.mit.edu	37	chr1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgatgtagggctgatggaaGaggttgtctgcaatatacag	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000294409.2	+	8	901	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000373816.1_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	271					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGGAAGAGGTTGTCTG	0.468																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.(781-783)Gag>Aag		glucocorticoid modulatory element binding protein 1							141	140	140					1																	29030754		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29030754G>A	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.811G>A	1.37:g.29030754G>A	ENSP00000294409:p.Glu271Lys					GMEB1_ENST00000294409.2_Missense_Mutation_p.E271K|GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	p.E261K	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	8	919	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	271					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.781G>A	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466274	0.84425	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.62498	0.03;0.03;0.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.43152	1.355	0.38376	D	0.944996	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.72427	-0.4297	10	0.62326	D	0.03	-11.8053	19.0481	0.93030	0.0:0.0:1.0:0.0	.	271;261	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	261;237;261;271	ENSP00000362922:E261K;ENSP00000355186:E261K;ENSP00000294409:E271K	ENSP00000294409:E271K	E	+	1	0	GMEB1	28903341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.808000	0.96608	0.650000	0.86243	GAG		0.468	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		83	338	0	0	0	1	0	83	338					A	29030754	G	A	29030754	3	1	79	1	0	0	0	0	1	0	0	0	6516	943	33	2	837	2	GMEB1	1	29030754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139514	29030754	220219867	375	10692											
GMEB1	10691	broad.mit.edu	37	chr1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggttttagacaacagAaggaaccaagtagagcaggg	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000294409.2	+	9	1062	c.972A>C	c.(970-972)agA>agC	p.R324S	GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000373816.1_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	324					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAGACAACAGAAGGAACCAAG	0.393																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.(940-942)agA>agC		glucocorticoid modulatory element binding protein 1							191	169	177					1																	29037105		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29037105A>C	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.972A>C	1.37:g.29037105A>C	ENSP00000294409:p.Arg324Ser					GMEB1_ENST00000294409.2_Missense_Mutation_p.R324S|GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	p.R314S	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	9	1080	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	324					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.942A>C	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133479	0.56828	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.58940	0.3;0.3;0.3	5.38	-1.54	0.08584	.	0.049383	0.85682	D	0.000000	T	0.46034	0.1372	L	0.56769	1.78	0.20403	N	0.999907	P;P	0.39480	0.675;0.462	B;B	0.30943	0.122;0.063	T	0.45425	-0.9262	10	0.46703	T	0.11	-27.8777	13.9953	0.64392	0.2001:0.0:0.7999:0.0	.	324;314	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	314;290;314;324	ENSP00000362922:R314S;ENSP00000355186:R314S;ENSP00000294409:R324S	ENSP00000294409:R324S	R	+	3	2	GMEB1	28909692	0.997000	0.39634	0.992000	0.48379	0.998000	0.95712	0.286000	0.18902	-0.280000	0.09154	0.529000	0.55759	AGA		0.393	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		90	364	0	0	0	1	0	90	364					C	29037105	A	C	29037105	3	2	79	1	0	0	0	0	1	0	0	0	6516	243	9	4	1002	4	GMEB1	1	29037105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6351	29037105	220213516	376	10693											
OPRD1	4985	broad.mit.edu	37	chr1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcccatccacatcttcGtcatcgtctggacgctggtg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACATCTTCGTCATCGTCTG	0.662																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(841-843)Gtc>Atc		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						30	26	27					1																	29189517		2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189517G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.841G>A	1.37:g.29189517G>A	ENSP00000234961:p.Val281Ile						p.V281I	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1083	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	281					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.841G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	OPRD1	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC		0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		25	71	0	0	0	1	0	25	71					A	29189517	G	A	29189517	3	1	79	1	0	0	0	0	1	0	0	0	10926	1145	40	1	851	1	OPRD1	1	29189517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152412	29189517	220061104	377	10694											
TMEM200B	399474	broad.mit.edu	37	chr1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccagccgtggccagcttCggtgagcacagtcccgagct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642																																						ENST00000420504.2																			0				ovary(1)	1						c.(841-843)cGa>cAa		transmembrane protein 200B							21	23	22					1																	29447499		2203	4300	6503	SO:0001583	missense	399474					integral to membrane		g.chr1:29447499C>T		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	1.37:g.29447499C>T	ENSP00000428544:p.Arg281Gln					TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)	2	999	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	281					Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	37	c.842G>A	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		28	119	0	0	0	1	0	28	119					T	29447499	C	T	29447499	3	4	79	1	0	0	0	0	1	0	0	0	16176	884	31	1	85	1	TMEM200B	1	29447499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257982	29447499	219803122	378	10695											
SFRS4	6429	broad.mit.edu	37	chr1	29475125	29475125	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcattctcactctctcctcGaccttccctctggctggatt	6	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29475125G>A	ENST00000373795.4	-	6	1516	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	SRSF4_ENST00000466448.1_5'Flank|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	428	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTCTCTCCTCGACCTTCCCTC	0.547																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1282-1284)Cga>Tga		serine/arginine-rich splicing factor 4							235	239	238					1																	29475125		2203	4300	6503	SO:0001587	stop_gained	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475125G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1282C>T	1.37:g.29475125G>A	ENSP00000362900:p.Arg428*					SRSF4_ENST00000546138.1_3'UTR	p.R428*	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1516	-			428			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	ENST00000373795.4	37	c.1282C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000116350	ENST00000373795	.	.	.	5.72	2.51	0.30379	.	0.286209	0.37669	N	0.001985	.	.	.	.	.	.	0.33133	D	0.5433	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.424	0.07403	0.0859:0.1188:0.372:0.4234	.	.	.	.	X	428	.	ENSP00000362900:R428X	R	-	1	2	SRSF4	29347712	0.005000	0.15991	0.996000	0.52242	0.965000	0.64279	1.277000	0.33167	0.723000	0.32274	0.655000	0.94253	CGA		0.547	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		54	1283	0	0	0	1	0	54	1283					A	29475125	G	A	29475125	4	1	79	1	0	0	0	0	0	1	0	0	14229	1066	37	1	206	1	SFRS4	1	29475125	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27626	29475125	219775496	379	10696											
PTPRU	10076	broad.mit.edu	37	chr1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgggctgaggtgcacGccgtcagcctgcagacctac	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000345512.3	+	7	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	336	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGAGGTGCACGCCGTCAGCCT	0.647																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1006-1008)Gcc>Acc		protein tyrosine phosphatase, receptor type, U							63	60	61					1																	29587277		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587277G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1006G>A	1.37:g.29587277G>A	ENSP00000334941:p.Ala336Thr					PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T|PTPRU_ENST00000345512.3_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T	p.A336T	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1135	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	336			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1006G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958342	0.73902	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.22	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152411	0.42682	D	0.000668	T	0.58921	0.2156	L	0.56769	1.78	0.49051	D	0.999743	D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.992	P;P;P;P;P	0.52343	0.57;0.57;0.57;0.696;0.696	T	0.59878	-0.7371	9	.	.	.	.	14.3429	0.66641	0.0:0.1488:0.8512:0.0	.	336;336;336;336;336	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	336	ENSP00000334941:A336T;ENSP00000362884:A336T;ENSP00000349333:A336T;ENSP00000314987:A336T;ENSP00000392332:A336T;ENSP00000432906:A336T	.	A	+	1	0	PTPRU	29459864	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	7.926000	0.87569	2.418000	0.82041	0.462000	0.41574	GCC		0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			26	353	0	0	0	1	0	26	353					A	29587277	G	A	29587277	3	1	79	1	0	0	0	0	1	0	0	0	12863	1087	38	1	1032	1	PTPRU	1	29587277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112152	29587277	219663344	380	10697											
PTPRU	10076	broad.mit.edu	37	chr1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggaggctgcggcgggaGccaggtggacaggactgctt	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000345512.3	+	12	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	640	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCGGCGGGAGCCAGGTGGAC	0.677																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1918-1920)gaG>gaT		protein tyrosine phosphatase, receptor type, U							58	51	53					1																	29609239		2203	4298	6501	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609239G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1920G>T	1.37:g.29609239G>T	ENSP00000334941:p.Glu640Asp					PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000345512.3_Missense_Mutation_p.E640D|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D	p.E640D	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2049	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	640			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1920G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257525	0.59321	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33216	1.46;1.48;1.48;1.48;1.42;1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.64404	1.975	0.50467	D	0.999876	B;B;B;B;B	0.28933	0.228;0.228;0.228;0.146;0.146	B;B;B;B;B	0.27262	0.078;0.078;0.078;0.036;0.036	T	0.07443	-1.0772	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	640;640;640;640;640	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	D	640	ENSP00000334941:E640D;ENSP00000362884:E640D;ENSP00000349333:E640D;ENSP00000314987:E640D;ENSP00000392332:E640D;ENSP00000432906:E640D	.	E	+	3	2	PTPRU	29481826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.259000	0.51515	2.598000	0.87819	0.549000	0.68633	GAG		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			38	280	1	0	4.07013e-28	1	4.72867e-28	38	280					T	29609239	G	T	29609239	3	4	79	1	0	0	0	0	1	0	0	0	12863	962	34	3	1966	3	PTPRU	1	29609239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21962	29609239	219641382	381	10698											
PTPRU	10076	broad.mit.edu	37	chr1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccggctgaattgcatccGcattgccaggaaaggtaagt	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000345512.3	+	13	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	722					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATTGCATCCGCATTGCCAGG	0.627																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2164-2166)cGc>cAc		protein tyrosine phosphatase, receptor type, U							108	109	109					1																	29610474		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29610474G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2165G>A	1.37:g.29610474G>A	ENSP00000334941:p.Arg722His					PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R722H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H	p.R722H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	13	2294	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	722					A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2165G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545457	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.36878	1.23;1.34;1.34;1.34;1.28;1.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.65541	-0.6143	9	.	.	.	.	18.351	0.90338	0.0:0.0:1.0:0.0	.	722;722;722;722;722	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	722	ENSP00000334941:R722H;ENSP00000362884:R722H;ENSP00000349333:R722H;ENSP00000314987:R722H;ENSP00000392332:R722H;ENSP00000432906:R722H	.	R	+	2	0	PTPRU	29483061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.022000	0.93678	2.577000	0.86979	0.549000	0.68633	CGC		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			86	630	0	0	0	1	0	86	630					A	29610474	G	A	29610474	3	1	79	1	0	0	0	0	1	0	0	0	12863	1087	38	1	2215	1	PTPRU	1	29610474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1235	29610474	219640147	382	10699											
PTPRU	10076	broad.mit.edu	37	chr1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggactcagacacctacGgggacatcaagattatgctg	12	10	2	2	rs374948381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000345512.3	+	22	3157	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1006W(2)|p.G1010W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACACCTACGGGGACATCAA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.001					ENST00000373779.3																			3	Substitution - Missense(3)	p.G1006W(2)|p.G1010W(1)	lung(3)	breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2998-3000)Ggg>Agg		protein tyrosine phosphatase, receptor type, U							130	115	120					1																	29638197		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638197G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3028G>A	1.37:g.29638197G>A	ENSP00000334941:p.Gly1010Arg					PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R	p.G1000R	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	21	3127	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1010			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2998G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841584	0.91197	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.76181	-0.3053	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	997;1006;1000;1006;1010	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1010;1000;1006;1006;997;1006	ENSP00000334941:G1010R;ENSP00000362884:G1000R;ENSP00000349333:G1006R;ENSP00000314987:G1006R;ENSP00000392332:G997R;ENSP00000432906:G1006R	.	G	+	1	0	PTPRU	29510784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GGG		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			128	536	0	0	0	1	0	128	536					A	29638197	G	A	29638197	3	1	79	1	0	0	0	0	1	0	0	0	12863	1116	39	1	3136	1	PTPRU	1	29638197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	29638197	219612424	383	10700											
MATN1	4146	broad.mit.edu	37	chr1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagccctcgtggcaggCgcaggtgtaggaaccggggg	19	9	0	1	rs373848420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622																																						ENST00000373765.4																			1	Substitution - Missense(1)	p.A248T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(742-744)Gcc>Acc		matrilin 1, cartilage matrix protein		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72	59	64		742	1.8	0.8	1		64	0,8600		0,0,4300	no	missense	MATN1	NM_002379.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	248/497	31189685	1,13005	2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31189685C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.742G>A	1.37:g.31189685C>T	ENSP00000362870:p.Ala248Thr					MATN1_ENST00000477320.1_5'UTR	p.A248T	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	4	777	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	248			EGF-like.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.742G>A	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	MATN1	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC		0.622	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		23	106	0	0	0	1	0	23	106					T	31189685	C	T	31189685	3	4	79	1	0	0	0	0	1	0	0	0	9374	768	27	1	768	1	MATN1	1	31189685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1551488	31189685	218060936	384	10701											
LAPTM5	7805	broad.mit.edu	37	chr1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcatcttggagtttctcttCtcctccaccgagttcatgca	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	224					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(670-672)gaG>gaT		lysosomal protein transmembrane 5							314	273	287					1																	31208047		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31208047C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.672G>T	1.37:g.31208047C>A	ENSP00000294507:p.Glu224Asp						p.E224D	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	7	746	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	224					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.672G>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594858	0.13875	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.7	0.173	0.15036	.	0.836425	0.10819	N	0.630715	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23013	-1.0200	10	0.26408	T	0.33	-1.0306	6.6261	0.22830	0.0:0.3532:0.4728:0.1741	.	224	Q13571	LAPM5_HUMAN	D	224	ENSP00000294507:E224D	ENSP00000294507:E224D	E	-	3	2	LAPTM5	30980634	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	0.321000	0.23259	-0.844000	0.03045	GAG		0.537	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		91	866	1	0	5.91559e-30	1	6.92642e-30	91	866					A	31208047	C	A	31208047	3	1	79	1	0	0	0	0	1	0	0	0	8657	912	32	3	124	3	LAPTM5	1	31208047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18362	31208047	218042574	385	10702											
LAPTM5	7805	broad.mit.edu	37	chr1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagagggtcaggatgCtcaggcagaagtccagcagc	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	147					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(439-441)aGc>aTc		lysosomal protein transmembrane 5							70	59	63					1																	31211857		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31211857C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.440G>T	1.37:g.31211857C>A	ENSP00000294507:p.Ser147Ile						p.S147I	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	5	514	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	147					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.440G>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119689	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58940	0.3	5.73	5.73	0.89815	.	0.053362	0.85682	D	0.000000	T	0.74906	0.3778	M	0.72118	2.19	0.42479	D	0.99285	D	0.89917	1.0	D	0.81914	0.995	T	0.77360	-0.2617	10	0.87932	D	0	-35.521	15.3854	0.74695	0.0:1.0:0.0:0.0	.	147	Q13571	LAPM5_HUMAN	I	147	ENSP00000294507:S147I	ENSP00000294507:S147I	S	-	2	0	LAPTM5	30984444	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.270000	0.58896	2.701000	0.92244	0.655000	0.94253	AGC		0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		6	37	1	0	0.0215528	1	0.0216335	6	37					A	31211857	C	A	31211857	3	1	79	1	0	0	0	0	1	0	0	0	8657	797	28	3	364	3	LAPTM5	1	31211857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3810	31211857	218038764	386	10703											
LAPTM5	7805	broad.mit.edu	37	chr1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccagggcggtggttgCgatgcggacattgaagcagc	18	8	0	1	rs369470045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(58-60)Gca>Aca		lysosomal protein transmembrane 5		C	THR/ALA	0,4406		0,0,2203	82	77	79		58	5.4	1	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAPTM5	NM_006762.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	20/263	31230535	1,13005	2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31230535C>T	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.58G>A	1.37:g.31230535C>T	ENSP00000294507:p.Ala20Thr					LAPTM5_ENST00000476492.1_5'UTR	p.A20T	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	1	132	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	20					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.58G>A	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753101	0.89753	0.0	1.16E-4	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.38	5.38	0.77491	.	0.407078	0.25361	N	0.031230	T	0.50820	0.1638	L	0.29908	0.895	0.35481	D	0.798177	D	0.89917	1.0	P	0.56216	0.794	T	0.61377	-0.7075	10	0.66056	D	0.02	-37.7545	14.5121	0.67794	0.0:1.0:0.0:0.0	.	20	Q13571	LAPM5_HUMAN	T	20	ENSP00000294507:A20T	ENSP00000294507:A20T	A	-	1	0	LAPTM5	31003122	0.983000	0.35010	0.963000	0.40424	0.567000	0.35839	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	GCA		0.627	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		30	146	0	0	0	1	0	30	146					T	31230535	C	T	31230535	3	4	79	1	0	0	0	0	1	0	0	0	8657	768	27	1	762	1	LAPTM5	1	31230535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18678	31230535	218020086	387	10704											
SDC3	9672	broad.mit.edu	37	chr1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggtagctgtgctgaCcagcctgggtgttggggcct	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000339394.6	-	3	919	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Missense_Mutation_p.V191I	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	249	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGCTGACCAGCCTGGGT	0.706																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(571-573)Gtc>Atc		syndecan 3							23	27	26					1																	31349524		2201	4298	6499	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349524C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.745G>A	1.37:g.31349524C>T	ENSP00000344468:p.Val249Ile					SDC3_ENST00000339394.6_Missense_Mutation_p.V249I	p.V191I			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	2063	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	249			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.571G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547782	0.65311	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.26957	1.7;1.72	5.23	5.23	0.72850	.	0.104244	0.40818	N	0.001018	T	0.22627	0.0546	L	0.27053	0.805	0.34526	D	0.7087	P;B	0.34587	0.458;0.284	B;B	0.34824	0.19;0.175	T	0.24764	-1.0151	10	0.44086	T	0.13	-21.7528	18.7907	0.91973	0.0:1.0:0.0:0.0	.	249;191	O75056;D3DPN2	SDC3_HUMAN;.	I	191;249	ENSP00000338346:V191I;ENSP00000344468:V249I	ENSP00000338346:V191I	V	-	1	0	SDC3	31122111	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.012000	0.49575	2.434000	0.82447	0.462000	0.41574	GTC		0.706	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		42	128	0	0	0	1	0	42	128					T	31349524	C	T	31349524	3	4	79	1	0	0	0	0	1	0	0	0	14003	507	18	2	595	2	SDC3	1	31349524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118989	31349524	217901097	388	10705											
SNRNP40	9410	broad.mit.edu	37	chr1	31766156	31766156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatgtccagagagcaGcatgattggggcttgaaggg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	61					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(181-183)Ctg>Ttg		small nuclear ribonucleoprotein 40kDa (U5)							90	75	80					1																	31766156		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31766156G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.181C>T	1.37:g.31766156G>A						SNRNP40_ENST00000446633.2_Silent_p.L61L	p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			2	199	-			61					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.181C>T	CCDS340.1																																																																																				0.478	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		32	169	0	0	0	1	0	32	169					A	31766156	G	A	31766156	2	1	79	1	0	0	0	0	0	0	0	1	14906	962	34	2		2	SNRNP40	1	31766156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416632	31766156	217484465	389	10706											
SERINC2	347735	broad.mit.edu	37	chr1	31905859	31905859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacagcctgatgcagacCgaggagtgcccacctatgct	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373709.3	+	9	1209	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000373710.1_Silent_p.T362T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	353					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(1084-1086)acC>acT		serine incorporator 2							40	35	37					1																	31905859		2202	4300	6502	SO:0001819	synonymous_variant	347735					integral to membrane		g.chr1:31905859C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1059C>T	1.37:g.31905859C>T						SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000373709.3_Silent_p.T353T	p.T362T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	10	1359	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	353					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	c.1086C>T	CCDS30662.1																																																																																				0.612	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		13	119	0	0	0	1	0	13	119					T	31905859	C	T	31905859	2	4	79	1	0	0	0	0	0	0	0	1	14130	639	23	1		1	SERINC2	1	31905859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139703	31905859	217344762	390	10707											
TINAGL1	64129	broad.mit.edu	37	chr1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcctgtctaccgcctcGgctccaacgtaagtcagcac	7	17	3	0	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	347					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0					ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1039-1041)Ggc>Agc		tubulointerstitial nephritis antigen-like 1		G	SER/GLY,SER/GLY,SER/GLY	4,4402	8.1+/-20.4	0,4,2199	83	92	89		946,724,1039	4.3	0.8	1	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	TINAGL1	NM_001204414.1,NM_001204415.1,NM_022164.2	56,56,56	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	316/437,242/363,347/468	32050933	4,13002	2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050933G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1039G>A	1.37:g.32050933G>A	ENSP00000271064:p.Gly347Ser					TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	p.G347S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	8	1115	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	347					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.1039G>A	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.304398	0.01353	9.08E-4	0.0	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.86097	-2.07;-2.07	5.31	4.29	0.51040	Peptidase C1A, papain C-terminal (2);	0.229383	0.45361	D	0.000367	T	0.55289	0.1911	N	0.00413	-1.525	0.80722	D	1	B;B	0.20671	0.037;0.047	B;B	0.15052	0.009;0.012	T	0.64347	-0.6429	10	0.02654	T	1	.	15.0297	0.71696	0.0:0.0:0.8029:0.1971	.	316;347	B4DPK6;Q9GZM7	.;TINAL_HUMAN	S	316;347;335	ENSP00000395137:G316S;ENSP00000271064:G347S	ENSP00000271064:G347S	G	+	1	0	TINAGL1	31823520	0.999000	0.42202	0.790000	0.31976	0.009000	0.06853	3.019000	0.49635	2.655000	0.90218	0.655000	0.94253	GGC		0.602	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		140	472	0	0	0	1	0	140	472					A	32050933	G	A	32050933	3	1	79	1	0	0	0	0	1	0	0	0	15974	1116	39	1	1065	1	TINAGL1	1	32050933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145074	32050933	217199688	391	10708											
HCRTR1	3061	broad.mit.edu	37	chr1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagtatgagtgggtcCtcatcgcagcctatgtggct	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000373706.5	+	1	298	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	49					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(145-147)Ctc>Atc		hypocretin (orexin) receptor 1							144	145	144					1																	32084938		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084938C>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.145C>A	1.37:g.32084938C>A	ENSP00000362810:p.Leu49Ile					HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373706.5_Missense_Mutation_p.L49I	p.L49I	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	3	530	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	49					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.145C>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.43294	0.95;0.95;0.95	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000004	T	0.51058	0.1652	L	0.47190	1.495	0.43863	D	0.996469	D;P	0.61697	0.99;0.941	P;P	0.58013	0.831;0.693	T	0.50898	-0.8773	10	0.44086	T	0.13	.	14.47	0.67509	0.0:1.0:0.0:0.0	.	49;49	A6NMV7;O43613	.;OX1R_HUMAN	I	49	ENSP00000384387:L49I;ENSP00000362810:L49I;ENSP00000362809:L49I	ENSP00000362809:L49I	L	+	1	0	HCRTR1	31857525	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.548000	0.53670	2.160000	0.67779	0.591000	0.81541	CTC		0.597	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		81	758	1	0	7.29696e-51	1	9.04737e-51	81	758					A	32084938	C	A	32084938	3	1	79	1	0	0	0	0	1	0	0	0	7031	681	24	3	147	3	HCRTR1	1	32084938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34005	32084938	217165683	392	10709											
COL16A1	1307	broad.mit.edu	37	chr1	32133784	32133784	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggcagtcctggggggccCgtggcacctgggtaacctgg	17	12	0	0	rs375549047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1095	Triple-helical region 2 (COL2) with 2 imperfections.				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)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3283-3285)acG>acT		collagen, type XVI, alpha 1							56	64	61					1																	32133784		1883	4109	5992	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32133784C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3285G>T	1.37:g.32133784C>A						COL16A1_ENST00000271069.6_Silent_p.T1095T	p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	51	3801	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1095			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3285G>T	CCDS41297.1																																																																																				0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		27	254	1	0	0.000117367	1	0.000119338	27	254					A	32133784	C	A	32133784	2	1	79	1	0	0	0	0	0	0	0	1	3682	639	23	3		3	COL16A1	1	32133784	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48846	32133784	217116837	393	10710											
COL16A1	1307	broad.mit.edu	37	chr1	32138370	32138370	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccagggatgccctggtcTcccttctctcccttctccac	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	977	Triple-helical region 3 (COL3).				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)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(2929-2931)ggA>ggG		collagen, type XVI, alpha 1							73	81	78					1																	32138370		1990	4161	6151	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138370T>C	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2931A>G	1.37:g.32138370T>C						COL16A1_ENST00000271069.6_Silent_p.G977G	p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	45	3447	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	977			Triple-helical region 3 (COL3).		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.2931A>G	CCDS41297.1																																																																																				0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		18	305	0	0	0	1	0	18	305					C	32138370	T	C	32138370	2	2	79	1	0	0	0	0	0	0	0	1	3682	1538	54	4		4	COL16A1	1	32138370	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4586	32138370	217112251	394	10711											
BAI2	576	broad.mit.edu	37	chr1	32196611	32196611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtagccttcagtgtgGgccactgtcttggcagctcg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1390					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4168-4170)gcC>gcT		brain-specific angiogenesis inhibitor 2							18	24	22					1																	32196611		2200	4300	6500	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196611G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4170C>T	1.37:g.32196611G>A						BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000398538.1_Silent_p.A1378A	p.A1390A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4511	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1390					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4170C>T	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		24	162	0	0	0	1	0	24	162					A	32196611	G	A	32196611	2	1	79	1	0	0	0	0	0	0	0	1	1300	1219	43	2		2	BAI2	1	32196611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58241	32196611	217054010	395	10712											
BAI2	576	broad.mit.edu	37	chr1	32198193	32198193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcacacccccatctgGcacttcaccacatcctggac	7	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1215					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCCCATCTGGCACTTCACCA	0.657																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(3643-3645)tgC>tgT		brain-specific angiogenesis inhibitor 2							50	44	46					1																	32198193		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32198193G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3645C>T	1.37:g.32198193G>A						BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000398538.1_Silent_p.C1203C	p.C1215C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	27	3986	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1215					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.3645C>T	CCDS346.2																																																																																				0.657	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		11	130	0	0	0	1	0	11	130					A	32198193	G	A	32198193	2	1	79	1	0	0	0	0	0	0	0	1	1300	1195	42	2		2	BAI2	1	32198193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	32198193	217052428	396	10713											
BAI2	576	broad.mit.edu	37	chr1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttagagcacaggctccacGcattccatggcccccacttg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1447-1449)gCg>gTg		brain-specific angiogenesis inhibitor 2							66	65	65					1																	32207538		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207538G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1448C>T	1.37:g.32207538G>A	ENSP00000362762:p.Ala483Val					BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V	p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	9	1789	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	483			TSP type-1 4.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1448C>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		67	287	0	0	0	1	0	67	287					A	32207538	G	A	32207538	3	1	79	1	0	0	0	0	1	0	0	0	1300	1087	38	1	3409	1	BAI2	1	32207538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9345	32207538	217043083	397	10714											
BAI2	576	broad.mit.edu	37	chr1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgggcagcaggagggcCtggagatgtggtggtggtgg	24	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(718-720)Ggc>Tgc		brain-specific angiogenesis inhibitor 2							36	45	42					1																	32221720		2203	4299	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221720C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.718G>T	1.37:g.32221720C>A	ENSP00000362762:p.Gly240Cys					BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C	p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1059	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	240					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.718G>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221614	0.22457	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44881	1.59;1.79;0.96;0.96;1.94;0.91;0.91;0.98;1.56;1.42	5.08	2.03	0.26663	.	0.169510	0.28515	N	0.015080	T	0.27697	0.0681	N	0.14661	0.345	0.19300	N	0.999974	B;D;B;P;P;B	0.58268	0.412;0.982;0.086;0.771;0.606;0.0	B;P;B;B;B;B	0.47162	0.161;0.54;0.015;0.321;0.424;0.0	T	0.08452	-1.0721	10	0.54805	T	0.06	.	7.7798	0.29058	0.0:0.6984:0.1384:0.1632	.	228;240;228;228;240;240	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	243;228;240;240;228;240;240;228;233;274	ENSP00000381564:G243C;ENSP00000381555:G228C;ENSP00000362762:G240C;ENSP00000362759:G240C;ENSP00000381550:G228C;ENSP00000257070:G240C;ENSP00000435397:G240C;ENSP00000381548:G228C;ENSP00000410921:G233C;ENSP00000437219:G274C	ENSP00000257070:G240C	G	-	1	0	BAI2	31994307	0.001000	0.12720	0.962000	0.40283	0.928000	0.56348	0.374000	0.20501	1.288000	0.44600	0.462000	0.41574	GGC		0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		23	319	1	0	1.87028e-06	1	1.92935e-06	23	319					A	32221720	C	A	32221720	3	1	79	1	0	0	0	0	1	0	0	0	1300	681	24	3	4159	3	BAI2	1	32221720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14182	32221720	217028901	398	10715											
SPOCD1	90853	broad.mit.edu	37	chr1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctgatagtatctcttCtccaccttactgttgaagga	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1044					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTATCTCTTCTCCACCTTAC	0.602																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(3130-3132)gaG>gaT		SPOC domain containing 1							24	25	25					1																	32256723		2203	4298	6501	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32256723C>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3132G>T	1.37:g.32256723C>A	ENSP00000353670:p.Glu1044Asp					SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	p.E1044D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	16	3261	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	1044					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.3132G>T	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050524|3.050524	0.55218|0.55218	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.54866|.	0.56;1.01;0.55;1.37|.	4.88|4.88	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.356;0.137;0.243|.	B;B;B|.	0.36719|.	0.231;0.049;0.116|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.32370|0.87932	T|D	0.25|0	-15.6466|-15.6466	5.119|5.119	0.14851|0.14851	0.0:0.6375:0.1746:0.1879|0.0:0.6375:0.1746:0.1879	.|.	1031;467;1044|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	D|I	524;1044;467;1031|329	ENSP00000257100:E524D;ENSP00000353670:E1044D;ENSP00000399778:E467D;ENSP00000435851:E1031D|.	ENSP00000257100:E524D|ENSP00000294514:R329I	E|R	-|-	3|2	2|0	SPOCD1|SPOCD1	32029310|32029310	0.902000|0.902000	0.30710|0.30710	0.498000|0.498000	0.27564|0.27564	0.818000|0.818000	0.46254|0.46254	0.838000|0.838000	0.27572|0.27572	0.294000|0.294000	0.22547|0.22547	-0.175000|-0.175000	0.13238|0.13238	GAG|AGA		0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		14	118	1	0	1.3612e-06	1	1.40558e-06	14	118					A	32256723	C	A	32256723	3	1	79	1	0	0	0	0	1	0	0	0	15130	912	32	3	522	3	SPOCD1	1	32256723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35003	32256723	216993898	399	10716											
SPOCD1	90853	broad.mit.edu	37	chr1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagccgacagctgtgtcCcgagaccagctgggccctgg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	888	SPOC.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGTGTCCCGAGACCAGC	0.627																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2662-2664)Gga>Aga		SPOC domain containing 1							27	26	26					1																	32258902		2200	4297	6497	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32258902C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2662G>A	1.37:g.32258902C>T	ENSP00000353670:p.Gly888Arg					SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	13	2791	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	888			SPOC.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2662G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999365	0.93227	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.73897	-0.79;0.4;-0.75;0.37	5.73	5.73	0.89815	Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	D	0.86669	0.5988	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87606	0.2500	9	0.87932	D	0	-17.4789	15.7793	0.78246	0.0:1.0:0.0:0.0	.	888;324;888	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	R	381;888;248;324;888	ENSP00000257100:G381R;ENSP00000353670:G888R;ENSP00000399778:G324R;ENSP00000435851:G888R	ENSP00000257100:G381R	G	-	1	0	SPOCD1	32031489	0.990000	0.36364	0.965000	0.40720	0.968000	0.65278	4.114000	0.57858	2.882000	0.98803	0.655000	0.94253	GGA		0.627	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		13	61	0	0	0	1	0	13	61					T	32258902	C	T	32258902	3	4	79	1	0	0	0	0	1	0	0	0	15130	632	22	2	1004	2	SPOCD1	1	32258902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2179	32258902	216991719	400	10717											
SPOCD1	90853	broad.mit.edu	37	chr1	32262200	32262200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacttaaccaccagatcCtccagggtcagtgtctggtc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000533231.1_Silent_p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	754					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ccaccaGATCCTCCAGGGTCA	0.602																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2260-2262)gaG>gaA		SPOC domain containing 1							162	126	138					1																	32262200		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32262200C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2262G>A	1.37:g.32262200C>T						SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.E754E	p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	10	2391	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	754					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.2262G>A	CCDS347.1																																																																																				0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		50	415	0	0	0	1	0	50	415					T	32262200	C	T	32262200	2	4	79	1	0	0	0	0	0	0	0	1	15130	680	24	2		2	SPOCD1	1	32262200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3298	32262200	216988421	401	10718											
SPOCD1	90853	broad.mit.edu	37	chr1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggcacaggtgtcagCgggggcagcgagtccttgct	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	384					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGGTGTCAGCGGGGGCAGCG	0.667																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1150-1152)Gct>Act		SPOC domain containing 1							13	14	14					1																	32279785		2199	4299	6498	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279785C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1150G>A	1.37:g.32279785C>T	ENSP00000353670:p.Ala384Thr					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	1279	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	384					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1150G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803308	0.16397	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32753	1.93;1.44;1.92	3.31	-6.63	0.01807	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.002	T	0.09314	-1.0680	9	0.25751	T	0.34	10.199	1.901	0.03267	0.4835:0.1905:0.0967:0.2293	.	384;384	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	384	ENSP00000353670:A384T;ENSP00000362752:A384T;ENSP00000435851:A384T	ENSP00000353670:A384T	A	-	1	0	SPOCD1	32052372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-3.978000	0.00085	-1.209000	0.01634	GCT		0.667	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		12	75	0	0	0	1	0	12	75					T	32279785	C	T	32279785	3	4	79	1	0	0	0	0	1	0	0	0	15130	768	27	1	2560	1	SPOCD1	1	32279785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17585	32279785	216970836	402	10719											
SPOCD1	90853	broad.mit.edu	37	chr1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaggccagcagacctgCtacaaagtttcctggggcaa	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	137					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGACCTGCTACAAAGTTT	0.607																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(409-411)aGc>aAc		SPOC domain containing 1							68	77	74					1																	32280525		2203	4299	6502	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280525C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.410G>A	1.37:g.32280525C>T	ENSP00000353670:p.Ser137Asn					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	539	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	137					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.410G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191639	0.38707	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.45668	1.19;0.89;1.19	3.57	1.71	0.24356	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39217	0.294;0.154	T	0.07693	-1.0759	9	0.48119	T	0.1	-0.0017	5.8672	0.18781	0.0:0.7583:0.0:0.2417	.	137;137	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	137	ENSP00000353670:S137N;ENSP00000362752:S137N;ENSP00000435851:S137N	ENSP00000353670:S137N	S	-	2	0	SPOCD1	32053112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.869000	0.04232	0.515000	0.28320	-0.137000	0.14449	AGC		0.607	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		85	559	0	0	0	1	0	85	559					T	32280525	C	T	32280525	3	4	79	1	0	0	0	0	1	0	0	0	15130	797	28	2	3300	2	SPOCD1	1	32280525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	32280525	216970096	403	10720											
TMEM39B	55116	broad.mit.edu	37	chr1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcagcaaacccctgCggatcctcaacatcctcctg	5	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	420						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567																																						ENST00000336294.5																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(1258-1260)Cgg>Tgg		transmembrane protein 39B							103	102	102					1																	32568053		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32568053C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1258C>T	1.37:g.32568053C>T	ENSP00000338165:p.Arg420Trp					TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	p.R420W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN			9	1404	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	420					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1258C>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.75	2.62	0.31277	.	0.054040	0.85682	D	0.000000	T	0.77301	0.4110	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77895	-0.2417	9	0.36615	T	0.2	-26.1014	16.0679	0.80897	0.4354:0.5646:0.0:0.0	.	420;293	Q9GZU3;Q9NW51	TM39B_HUMAN;.	W	420;221	.	ENSP00000338165:R420W	R	+	1	2	TMEM39B	32340640	0.791000	0.28800	1.000000	0.80357	0.987000	0.75469	0.322000	0.19576	0.851000	0.35264	0.655000	0.94253	CGG		0.567	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		80	405	0	0	0	1	0	80	405					T	32568053	C	T	32568053	3	4	79	1	0	0	0	0	1	0	0	0	16214	759	27	1	1292	1	TMEM39B	1	32568053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287528	32568053	216682568	404	10721											
KPNA6	23633	broad.mit.edu	37	chr1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagcccagggaaagacaAttatcgaatgaagagctata	12	7	0	3	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	11	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(31-33)aAt>aGt		karyopherin alpha 6 (importin alpha 7)		A	SER/ASN	0,4406		0,0,2203	77	74	75		32	4.4	1	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPNA6	NM_012316.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	11/537	32620216	1,13005	2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32620216A>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.32A>G	1.37:g.32620216A>G	ENSP00000362728:p.Asn11Ser					KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR	p.N11S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			2	125	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	11			IBB.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.32A>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	a	17.36	3.370807	0.61624	0.0	1.16E-4	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.47869	0.83;0.83;0.83	5.5	4.37	0.52481	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.45137	1.4	0.80722	D	1	B;B	0.32693	0.38;0.001	B;B	0.31946	0.138;0.009	T	0.18147	-1.0346	10	0.37606	T	0.19	-12.3149	11.4813	0.50326	0.9293:0.0:0.0707:0.0	.	16;11	F5GYL8;O60684	.;IMA7_HUMAN	S	11;8;16	ENSP00000362728:N11S;ENSP00000444930:N8S;ENSP00000440609:N16S	ENSP00000362728:N11S	N	+	2	0	KPNA6	32392803	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	1.030000	0.39839	0.533000	0.62120	AAT		0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		21	266	0	0	0	1	0	21	266					G	32620216	A	G	32620216	3	3	79	1	0	0	0	0	1	0	0	0	8464	101	4	4	38	4	KPNA6	1	32620216	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52163	32620216	216630405	405	10722											
LCK	3932	broad.mit.edu	37	chr1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactccacagctgctcatccGaaatggctctgaggtgcggg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000336890.5	+	3	254	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000333070.4_Missense_Mutation_p.R39Q	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	39	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CTGCTCATCCGAAATGGCTCT	0.627			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(115-117)cGa>cAa		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						66	57	60					1																	32740348		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740348G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.116G>A	1.37:g.32740348G>A	ENSP00000337825:p.Arg39Gln					LCK_ENST00000336890.5_Missense_Mutation_p.R39Q|LCK_ENST00000373564.3_Missense_Mutation_p.R39Q	p.R39Q	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			3	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	39			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.116G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106324	0.37145	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.66	4.66	0.58398	.	0.173117	0.31370	N	0.007762	T	0.25269	0.0614	N	0.24115	0.695	0.25230	N	0.989837	B;B;B;P	0.42692	0.154;0.414;0.014;0.787	B;B;B;B	0.26693	0.006;0.057;0.008;0.072	T	0.22521	-1.0214	10	0.10111	T	0.7	.	14.8216	0.70077	0.0:0.0:1.0:0.0	.	83;39;39;39	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Q	39;39;39;39;39;83;83;39;83;39	ENSP00000337825:R39Q;ENSP00000431517:R39Q;ENSP00000435605:R39Q;ENSP00000434525:R39Q;ENSP00000362663:R39Q;ENSP00000436554:R83Q;ENSP00000362658:R83Q;ENSP00000328213:R39Q;ENSP00000362665:R39Q	ENSP00000328213:R39Q	R	+	2	0	LCK	32512935	0.983000	0.35010	0.663000	0.29738	0.639000	0.38242	3.079000	0.50104	2.597000	0.87782	0.555000	0.69702	CGA		0.627	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		30	243	0	0	0	1	0	30	243					A	32740348	G	A	32740348	3	1	79	1	0	0	0	0	1	0	0	0	8707	1058	37	1	122	1	LCK	1	32740348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120132	32740348	216510273	406	10723											
BSDC1	55108	broad.mit.edu	37	chr1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttggagtgaatagggGgtgagggtccagtctcaccc	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000455895.2	-	9	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000341071.7_Missense_Mutation_p.P347L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	330										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1039-1041)cCc>cTc		BSD domain containing 1							71	71	71					1																	32842030		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32842030G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.989C>T	1.37:g.32842030G>A	ENSP00000412173:p.Pro330Leu					BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P330L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L	p.P347L			Q9NW68	BSDC1_HUMAN			9	1051	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	330					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1040C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764088	0.15914	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	3.95	0.45737	.	0.522233	0.22742	N	0.056182	T	0.56529	0.1991	L	0.54323	1.7	0.42041	D	0.991071	B;B;B;B;B	0.22003	0.035;0.004;0.02;0.063;0.005	B;B;B;B;B	0.19666	0.026;0.016;0.009;0.026;0.004	T	0.58787	-0.7575	9	0.62326	D	0.03	-7.0418	11.2939	0.49267	0.0866:0.0:0.9134:0.0	.	235;274;347;347;330	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	330;269;347;235;274;347;330	.	ENSP00000344816:P347L	P	-	2	0	BSDC1	32614617	0.989000	0.36119	0.908000	0.35775	0.112000	0.19704	4.329000	0.59260	1.372000	0.46190	0.462000	0.41574	CCC		0.637	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		49	513	0	0	0	1	0	49	513					A	32842030	G	A	32842030	3	1	79	1	0	0	0	0	1	0	0	0	1532	1232	43	2	315	2	BSDC1	1	32842030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101682	32842030	216408591	407	10724											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaactgaacgagcagCgcaggcaagatgtattttgt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(52-54)Cgc>Tgc		zinc finger and BTB domain containing 8A							65	60	62					1																	33058584		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058584C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.52C>T	1.37:g.33058584C>T	ENSP00000362609:p.Arg18Cys					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	281	+			18					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.52C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107142	0.77096	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.73152	-0.72;-0.72	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	D	0.88217	0.6377	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90743	0.4651	10	0.87932	D	0	-12.0923	18.3637	0.90384	0.0:1.0:0.0:0.0	.	18;18	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	C	18	ENSP00000362609:R18C;ENSP00000317561:R18C	ENSP00000317561:R18C	R	+	1	0	ZBTB8A	32831171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.560000	0.67332	2.651000	0.90000	0.585000	0.79938	CGC		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		26	157	0	0	0	1	0	26	157					T	33058584	C	T	33058584	3	4	79	1	0	0	0	0	1	0	0	0	17609	768	27	1	54	1	ZBTB8A	1	33058584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216554	33058584	216192037	408	10725											
KIAA1522	57648	broad.mit.edu	37	chr1	33233558	33233558	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgctccctacaacaccaaGgtaagcttcctctccactcc	4	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000373480.1	+	2	332	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000294521.3_Splice_Site_p.E77*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	77										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAACACCAAGGTAAGCTtcc	0.612																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.e2+1		KIAA1522							60	66	64					1																	33233558		2005	4167	6172	SO:0001630	splice_region_variant	57648							g.chr1:33233558G>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.229+1G>T	1.37:g.33233558G>T						KIAA1522_ENST00000373481.3_Splice_Site_p.E88_splice|KIAA1522_ENST00000373480.1_Splice_Site_p.E77_splice|KIAA1522_ENST00000294521.3_Splice_Site_p.E77_splice	p.E136_splice	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	476	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	77					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Splice_Site	SNP	ENST00000373480.1	37	c.406_splice	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826624	0.71143	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	.	.	.	5.03	4.12	0.48240	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3583	13.3902	0.60821	0.0776:0.0:0.9224:0.0	.	.	.	.	X	136;88;77;77	.	ENSP00000294521:E77X	E	+	1	0	KIAA1522	33006145	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.778000	0.91785	1.269000	0.44280	0.462000	0.41574	GAG		0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		Nonsense_Mutation	20	383	1	0	5.03518e-11	1	5.3609e-11	20	383					T	33233558	G	T	33233558	5	4	79	1	0	0	0	0	0	0	1	0	8268	1014	35	3	412	3	KIAA1522	1	33233558	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174974	33233558	216017063	409	10726											
KIAA1522	57648	broad.mit.edu	37	chr1	33235788	33235788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggcagggcctgcagaGcccctgagcccggccatgtc	17	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000373480.1	+	6	934	c.831G>A	c.(829-831)gaG>gaA	p.E277E	KIAA1522_ENST00000401073.2_Silent_p.E336E|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.E288E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	277										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGAGCCCCTGAGCC	0.652																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)gaG>gaA		KIAA1522							37	41	39					1																	33235788		2020	4157	6177	SO:0001819	synonymous_variant	57648							g.chr1:33235788G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.831G>A	1.37:g.33235788G>A						KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000373480.1_Silent_p.E277E|KIAA1522_ENST00000294521.3_Intron	p.E336E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1078	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	277			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1008G>A	CCDS55588.1																																																																																				0.652	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			47	410	0	0	0	1	0	47	410					A	33235788	G	A	33235788	2	1	79	1	0	0	0	0	0	0	0	1	8268	962	34	2		2	KIAA1522	1	33235788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	33235788	216014833	410	10727											
KIAA1522	57648	broad.mit.edu	37	chr1	33236217	33236217	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagacacactcagcattcgGagcagtgggcagttgtctgg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000373480.1	+	6	1363	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.R431R	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	420	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGCATTCGGAGCAGTGGGC	0.672																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1435-1437)cgG>cgA		KIAA1522							31	36	34					1																	33236217		2065	4199	6264	SO:0001819	synonymous_variant	57648							g.chr1:33236217G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1260G>A	1.37:g.33236217G>A						KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000373480.1_Silent_p.R420R|KIAA1522_ENST00000294521.3_Intron	p.R479R	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1507	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	420			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1437G>A	CCDS55588.1																																																																																				0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			14	130	0	0	0	1	0	14	130					A	33236217	G	A	33236217	2	1	79	1	0	0	0	0	0	0	0	1	8268	1161	41	2		2	KIAA1522	1	33236217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	33236217	216014404	411	10728											
TMEM54	113452	broad.mit.edu	37	chr1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtcagaggctcagaGctggtgcagctcagcaggtc	16	10	3	3	rs527445029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000475208.1_5'Flank|TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	216						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(646-648)agC>agA		transmembrane protein 54							69	67	68					1																	33360427		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33360427G>T		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.648C>A	1.37:g.33360427G>T	ENSP00000362562:p.Ser216Arg					TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	p.S216R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			6	767	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	216					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.648C>A	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693879	0.30052	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.49139	0.79	4.83	0.694	0.18062	.	0.992833	0.08193	N	0.983470	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	D;B;D	0.76494	0.999;0.001;0.998	D;B;D	0.83275	0.996;0.002;0.991	T	0.34054	-0.9844	10	0.02654	T	1	.	4.139	0.10184	0.2911:0.1732:0.5357:0.0	.	196;163;216	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	R	216;163	ENSP00000362562:S216R	ENSP00000328630:S163R	S	-	3	2	TMEM54	33133014	0.000000	0.05858	0.010000	0.14722	0.208000	0.24298	0.445000	0.21677	0.188000	0.20168	-0.142000	0.14014	AGC		0.627	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		82	318	1	0	2.38877e-28	1	2.77873e-28	82	318					T	33360427	G	T	33360427	3	4	79	1	0	0	0	0	1	0	0	0	16232	962	34	3	24	3	TMEM54	1	33360427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124210	33360427	215890194	412	10729											
RNF19B	127544	broad.mit.edu	37	chr1	33407890	33407890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccactggagagaatgccgcCactcagcgtgccccctgaga	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33407890C>A	ENST00000373456.7	-	7	1575	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C|RNF19B_ENST00000356990.5_Missense_Mutation_p.G525C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	526					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAATGCCGCCACTCAGCGTG	0.458																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1573-1575)Ggc>Tgc		ring finger protein 19B							95	93	94					1																	33407890		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33407890C>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1576G>T	1.37:g.33407890C>A	ENSP00000362555:p.Gly526Cys					RNF19B_ENST00000373456.7_Missense_Mutation_p.G526C|RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C	p.G525C	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			7	1572	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	526					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1573G>T	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076134	0.55646	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.53640	0.61;0.82;0.62	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.67869	0.2939	M	0.64170	1.965	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.962;0.976	T	0.70160	-0.4948	10	0.66056	D	0.02	.	18.9322	0.92571	0.0:1.0:0.0:0.0	.	525;526;525	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	C	526;525;525;424	ENSP00000362555:G526C;ENSP00000349482:G525C;ENSP00000235150:G525C	ENSP00000235150:G525C	G	-	1	0	RNF19B	33180477	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	2.780000	0.47742	2.538000	0.85594	0.655000	0.94253	GGC		0.458	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		9	513	1	0	1.76689e-08	1	1.84553e-08	9	513					A	33407890	C	A	33407890	3	1	79	1	0	0	0	0	1	0	0	0	13521	594	21	3	660	3	RNF19B	1	33407890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47463	33407890	215842731	413	10730											
RNF19B	127544	broad.mit.edu	37	chr1	33409668	33409668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaattttcactccttttcCgttggctgtgctaactccac	5	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33409668C>T	ENST00000373456.7	-	6	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	RNF19B_ENST00000235150.4_Missense_Mutation_p.G452R|RNF19B_ENST00000356990.5_Missense_Mutation_p.G452R	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	453					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTCCTTTTCCGTTGGCTGTG	0.413																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1354-1356)Gga>Aga		ring finger protein 19B							98	88	91					1																	33409668		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33409668C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1357G>A	1.37:g.33409668C>T	ENSP00000362555:p.Gly453Arg					RNF19B_ENST00000373456.7_Missense_Mutation_p.G453R|RNF19B_ENST00000235150.4_Missense_Mutation_p.G452R	p.G452R	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			6	1353	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	453					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1354G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009920	0.93346	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.34472	1.36;1.43;1.36	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.995;0.999;0.962	T	0.60697	-0.7212	10	0.56958	D	0.05	.	19.7769	0.96398	0.0:1.0:0.0:0.0	.	452;453;452	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	R	453;452;452;351	ENSP00000362555:G453R;ENSP00000349482:G452R;ENSP00000235150:G452R	ENSP00000235150:G452R	G	-	1	0	RNF19B	33182255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GGA		0.413	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		6	239	0	0	0	1	0	6	239					T	33409668	C	T	33409668	3	4	79	1	0	0	0	0	1	0	0	0	13521	661	23	1	883	1	RNF19B	1	33409668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1778	33409668	215840953	414	10731											
RNF19B	127544	broad.mit.edu	37	chr1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaatggcaatgccaGcaatgagagaaatccccact	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000373456.7	-	4	1093	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D|RNF19B_ENST00000356990.5_Missense_Mutation_p.A364D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	365					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1090-1092)gCt>gAt		ring finger protein 19B							95	77	83					1																	33412058		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33412058G>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1094C>A	1.37:g.33412058G>T	ENSP00000362555:p.Ala365Asp					RNF19B_ENST00000373456.7_Missense_Mutation_p.A365D|RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D	p.A364D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			4	1090	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	365					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1091C>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517053	0.85495	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.39056	1.1;1.18;1.11	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.125;1.0	D;B;D	0.91635	0.999;0.028;0.999	T	0.73560	-0.3944	10	0.87932	D	0	.	16.1114	0.81266	0.0:0.0:0.8652:0.1348	.	364;365;364	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	365;364;364;263	ENSP00000362555:A365D;ENSP00000349482:A364D;ENSP00000235150:A364D	ENSP00000235150:A364D	A	-	2	0	RNF19B	33184645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.781000	0.99029	1.456000	0.47831	0.563000	0.77884	GCT		0.473	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		33	125	1	0	9.04072e-19	1	1.00536e-18	33	125					T	33412058	G	T	33412058	3	4	79	1	0	0	0	0	1	0	0	0	13521	971	34	3	1154	3	RNF19B	1	33412058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	33412058	215838563	415	10732											
AK2	204	broad.mit.edu	37	chr1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcctgcctcacagtcCgagggaagccatccagaaga	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000487289.1	-	3	323	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423																																						ENST00000373449.2																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(307-309)cGg>cAg		adenylate kinase 2							47	49	48					1																	33487216		2203	4300	6503	SO:0001583	missense	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33487216C>T	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.308G>A	1.37:g.33487216C>T	ENSP00000446849:p.Arg103Gln					AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000487289.1_Missense_Mutation_p.R103Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q	p.R103Q	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN			3	349	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	103		R -> W (in RDYS).				Missense_Mutation	SNP	ENST00000487289.1	37	c.308G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676763	0.88445	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	H	0.99967	5.1	0.80722	D	1	B;B;B;B	0.34255	0.15;0.018;0.445;0.15	B;B;B;B	0.40009	0.084;0.01;0.316;0.084	D	0.95841	0.8866	10	0.72032	D	0.01	-11.1021	20.1745	0.98175	0.0:1.0:0.0:0.0	.	103;61;103;103	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	103;61;103;103;103;103;103	ENSP00000362548:R103Q;ENSP00000449003:R61Q;ENSP00000447082:R103Q;ENSP00000450109:R103Q;ENSP00000346921:R103Q;ENSP00000446849:R103Q	ENSP00000346921:R103Q	R	-	2	0	AK2	33259803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.941000	0.99782	0.655000	0.94253	CGG		0.423	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625		57	227	0	0	0	1	0	57	227					T	33487216	C	T	33487216	3	4	79	1	0	0	0	0	1	0	0	0	440	652	23	1	436	1	AK2	1	33487216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75158	33487216	215763405	416	10733											
TRIM62	55223	broad.mit.edu	37	chr1	33625357	33625357	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagccagccgctcctgcagGatctgggctccctcctggac	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	ENST00000291416.5	-	3	926	c.693C>T	c.(691-693)atC>atT	p.I231I	TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	231					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GCTCCTGCAGGATCTGGGCTC	0.692																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(691-693)atC>atT		tripartite motif containing 62							50	52	51					1																	33625357		2203	4300	6503	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625357G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.693C>T	1.37:g.33625357G>A						TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	p.I231I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	926	-		Myeloproliferative disorder(586;0.0393)	231					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.693C>T	CCDS376.1																																																																																				0.692	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		11	376	0	0	0	1	0	11	376					A	33625357	G	A	33625357	2	1	79	1	0	0	0	0	0	0	0	1	16590	1164	41	2		2	TRIM62	1	33625357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138141	33625357	215625264	417	10734											
PHC2	1912	broad.mit.edu	37	chr1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagatgagctggctgagatgGgtgacaagggttcctcatag	15	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	752					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGAGATGGGTGACAAGGG	0.587																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2254-2256)cCc>cAc		polyhomeotic homolog 2 (Drosophila)							107	98	101					1																	33794638		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33794638G>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2255C>A	1.37:g.33794638G>T	ENSP00000257118:p.Pro752His					PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H	p.P752H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			13	2308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	752					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.2255C>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852429	0.91355	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.55413	1.52;1.07;0.52;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;D	0.66497	0.816;0.816;0.816;0.944	T	0.69525	-0.5122	10	0.66056	D	0.02	-19.8649	17.6713	0.88218	0.0:0.0:1.0:0.0	.	753;724;752;167	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	723;752;358;217;329;753;217	ENSP00000389436:P723H;ENSP00000257118:P752H;ENSP00000362521:P358H;ENSP00000391440:P753H	ENSP00000257118:P752H	P	-	2	0	PHC2	33567225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.128000	0.94424	2.771000	0.95319	0.561000	0.74099	CCC		0.587	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		45	462	1	0	2.37825e-27	1	2.75276e-27	45	462					T	33794638	G	T	33794638	3	4	79	1	0	0	0	0	1	0	0	0	11859	1232	43	3	329	3	PHC2	1	33794638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169281	33794638	215455983	418	10735											
PHC2	1912	broad.mit.edu	37	chr1	33797020	33797020	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaagtccacccggccacaGagctcacacttgagtttgag	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373422.3_Silent_p.L250L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGCCACAGAGCTCACACT	0.527																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1930-1932)ctC>ctA		polyhomeotic homolog 2 (Drosophila)							126	137	133					1																	33797020		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797020G>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1932C>A	1.37:g.33797020G>T						PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.L615L	p.L644L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			11	1985	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	644					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.1932C>A	CCDS378.1																																																																																				0.527	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		62	573	1	0	2.54232e-27	1	2.94239e-27	62	573					T	33797020	G	T	33797020	2	4	79	1	0	0	0	0	0	0	0	1	11859	929	33	3		3	PHC2	1	33797020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2382	33797020	215453601	419	10736											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccaccagcgcacccacaCtggagagaagccgtataaat	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	926					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGCACCCACACTGGAGAGAAG	0.527																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2776-2778)aCt>aTt		zinc finger and SCAN domain containing 20							65	77	73					1																	33960721		2143	4275	6418	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960721C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2777C>T	1.37:g.33960721C>T	ENSP00000355053:p.Thr926Ile						p.T926I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2930	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	926					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2777C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242495	0.79912	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196572	0.36066	N	0.002802	T	0.79604	0.4474	M	0.75777	2.31	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81172	-0.1054	9	0.72032	D	0.01	-16.54	17.2441	0.87022	0.0:1.0:0.0:0.0	.	925;926	P17040-3;P17040	.;ZSC20_HUMAN	I	926;860;860	.	ENSP00000324450:T926I	T	+	2	0	ZSCAN20	33733308	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.085000	0.71343	2.648000	0.89879	0.655000	0.94253	ACT		0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		44	386	0	0	0	1	0	44	386					T	33960721	C	T	33960721	3	4	79	1	0	0	0	0	1	0	0	0	18285	565	20	2	2803	2	ZSCAN20	1	33960721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163701	33960721	215289900	420	10737											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagagaagccctacaAatgccttgagtgtggaaaat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	960					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2878-2880)aAa>aCa		zinc finger and SCAN domain containing 20							85	99	94					1																	33960823		2161	4277	6438	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960823A>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2879A>C	1.37:g.33960823A>C	ENSP00000355053:p.Lys960Thr						p.K960T	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	3032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	960					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2879A>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973625	0.34848	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184247	0.38058	N	0.001840	T	0.29061	0.0722	L	0.35593	1.075	0.09310	N	1	B;B	0.30193	0.178;0.272	B;B	0.33339	0.062;0.162	T	0.22243	-1.0222	9	0.72032	D	0.01	-3.6351	4.805	0.13316	0.6102:0.1497:0.24:0.0	.	959;960	P17040-3;P17040	.;ZSC20_HUMAN	T	960;894;894	.	ENSP00000324450:K960T	K	+	2	0	ZSCAN20	33733410	0.000000	0.05858	0.960000	0.40013	0.986000	0.74619	-0.041000	0.12084	0.092000	0.17331	0.533000	0.62120	AAA		0.502	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		33	292	0	0	0	1	0	33	292					C	33960823	A	C	33960823	3	2	79	1	0	0	0	0	1	0	0	0	18285	14	1	4	2905	4	ZSCAN20	1	33960823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102	33960823	215289798	421	10738											
C1orf94	84970	broad.mit.edu	37	chr1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagatctgttccaagcCcaaggctgaccctgctgtgg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	324										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTTCCAAGCCCAAGGCTGAC	0.617																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(970-972)cCc>cTc		chromosome 1 open reading frame 94							48	45	46					1																	34663476		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663476C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.971C>T	1.37:g.34663476C>T	ENSP00000435634:p.Pro324Leu					C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	p.P324L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	1091	+		Myeloproliferative disorder(586;0.0393)	134					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.971C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.28454	1.61;1.61	4.78	4.78	0.61160	.	0.347910	0.24947	N	0.034333	T	0.31231	0.0790	L	0.52573	1.65	0.40830	D	0.983584	P	0.36909	0.573	B	0.37780	0.258	T	0.20874	-1.0262	10	0.59425	D	0.04	-9.4525	13.2926	0.60278	0.0:1.0:0.0:0.0	.	324	Q6P1W5	CA094_HUMAN	L	134;324	ENSP00000362472:P134L;ENSP00000435634:P324L	ENSP00000362472:P134L	P	+	2	0	C1orf94	34436063	0.037000	0.19845	0.941000	0.38009	0.684000	0.39900	1.286000	0.33273	2.194000	0.70268	0.557000	0.71058	CCC		0.617	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		16	182	0	0	0	1	0	16	182					T	34663476	C	T	34663476	3	4	79	1	0	0	0	0	1	0	0	0	2078	623	22	2	977	2	C1orf94	1	34663476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702653	34663476	214587145	422	10739											
C1orf94	84970	broad.mit.edu	37	chr1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagccgagaagaacttgCtctatgagttccttggggcc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	395										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGAACTTGCTCTATGAGTT	0.577																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1183-1185)Ctc>Atc		chromosome 1 open reading frame 94							50	50	50					1																	34666546		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666546C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1183C>A	1.37:g.34666546C>A	ENSP00000435634:p.Leu395Ile					C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	p.L395I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1303	+		Myeloproliferative disorder(586;0.0393)	205					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1183C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833400	0.32421	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36157	1.27;1.27	5.73	3.63	0.41609	.	0.266792	0.26776	N	0.022549	T	0.38746	0.1052	L	0.58101	1.795	0.29571	N	0.84988	P	0.45957	0.869	P	0.47645	0.553	T	0.34850	-0.9812	10	0.51188	T	0.08	-15.6548	7.4085	0.27004	0.0:0.7679:0.0:0.2321	.	395	Q6P1W5	CA094_HUMAN	I	205;395	ENSP00000362472:L205I;ENSP00000435634:L395I	ENSP00000362472:L205I	L	+	1	0	C1orf94	34439133	0.996000	0.38824	0.999000	0.59377	0.134000	0.20937	0.660000	0.25009	0.583000	0.29574	0.655000	0.94253	CTC		0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		36	150	1	0	1.06647e-15	1	1.16694e-15	36	150					A	34666546	C	A	34666546	3	1	79	1	0	0	0	0	1	0	0	0	2078	797	28	3	1193	3	C1orf94	1	34666546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3070	34666546	214584075	423	10740											
GJB5	2709	broad.mit.edu	37	chr1	35223537	35223537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgcatcctgctcaacctCgtggagctcatctacctggt	8	14	4	0	rs200331025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20970	0.0		0.0	False		,,,				2504	0.0					ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(604-606)ctC>ctT		gap junction protein, beta 5, 31.1kDa							120	100	107					1																	35223537		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223537C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.606C>T	1.37:g.35223537C>T							p.L202L	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	779	+		Myeloproliferative disorder(586;0.0393)	202					Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.606C>T	CCDS382.1																																																																																				0.547	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		64	236	0	0	0	1	0	64	236					T	35223537	C	T	35223537	2	4	79	1	0	0	0	0	0	0	0	1	6440	871	31	1		1	GJB5	1	35223537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556991	35223537	214027084	424	10741											
GJA4	2701	broad.mit.edu	37	chr1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggagaggctggcgtcttCcaggccccctctcttcctgg	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	303					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(907-909)tCc>tTc		gap junction protein, alpha 4, 37kDa							45	42	43					1																	35260722		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260722C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.908C>T	1.37:g.35260722C>T	ENSP00000343676:p.Ser303Phe						p.S303F	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	996	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	303					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.908C>T	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657035	0.47467	.	.	ENSG00000187513	ENST00000342280	D	0.97553	-4.43	5.52	5.52	0.82312	.	0.854734	0.10311	N	0.689936	D	0.96244	0.8775	L	0.44542	1.39	0.37490	D	0.916369	B	0.28512	0.214	B	0.34873	0.191	D	0.93004	0.6426	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	303	P35212	CXA4_HUMAN	F	303	ENSP00000343676:S303F	ENSP00000343676:S303F	S	+	2	0	GJA4	35033309	0.046000	0.20272	0.668000	0.29813	0.691000	0.40173	1.444000	0.35068	2.579000	0.87056	0.561000	0.74099	TCC		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		13	122	0	0	0	1	0	13	122					T	35260722	C	T	35260722	3	4	79	1	0	0	0	0	1	0	0	0	6432	855	30	2	910	2	GJA4	1	35260722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37185	35260722	213989899	425	10742											
DLGAP3	58512	broad.mit.edu	37	chr1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagccttgggcccattataGtcccgcttccccggcgcctc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(580-582)gaC>gaA		discs, large (Drosophila) homolog-associated protein 3							26	28	27					1																	35370403		2203	4297	6500	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370403G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.582C>A	1.37:g.35370403G>T	ENSP00000362444:p.Asp194Glu					DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E	p.D194E			O95886	DLGP3_HUMAN			3	850	-		Myeloproliferative disorder(586;0.0393)	194					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.582C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	5.093	0.202863	0.09704	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.23552	1.9;1.9	4.47	2.29	0.28610	.	0.126216	0.53938	D	0.000043	T	0.11793	0.0287	N	0.11927	0.2	0.31210	N	0.698711	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	10	0.23891	T	0.37	-12.827	6.8141	0.23820	0.1842:0.3212:0.4945:0.0	.	194	O95886	DLGP3_HUMAN	E	194	ENSP00000362444:D194E;ENSP00000235180:D194E	ENSP00000235180:D194E	D	-	3	2	DLGAP3	35142990	0.948000	0.32251	1.000000	0.80357	0.957000	0.61999	0.087000	0.14958	0.959000	0.37980	0.448000	0.29417	GAC		0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		26	277	1	0	3.65163e-15	1	3.98403e-15	26	277					T	35370403	G	T	35370403	3	4	79	1	0	0	0	0	1	0	0	0	4577	1020	36	3	2397	3	DLGAP3	1	35370403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109681	35370403	213880218	426	10743											
ZMYM1	79830	broad.mit.edu	37	chr1	35578670	35578670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcatcagtattcagTcagcatgcaattggttccag	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35578670T>C	ENST00000373330.1	+	11	1413	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	ZMYM1_ENST00000359858.4_Silent_p.S413S|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	413	Ser-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTATTCAGTCAGCATGCAA	0.388																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1237-1239)agT>agC		zinc finger, MYM-type 1							66	63	64					1																	35578670		1907	4135	6042	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35578670T>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1239T>C	1.37:g.35578670T>C						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.S413S	p.S413S			Q5SVZ6	ZMYM1_HUMAN			11	1413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	413			Ser-rich.		D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1239T>C	CCDS41302.1																																																																																				0.388	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		21	169	0	0	0	1	0	21	169					C	35578670	T	C	35578670	2	2	79	1	0	0	0	0	0	0	0	1	17752	1664	58	4		4	ZMYM1	1	35578670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208267	35578670	213671951	427	10744											
ZMYM1	79830	broad.mit.edu	37	chr1	35580389	35580389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttatgtttttcggagttTgattattgcaaaataaagca	8	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000359858.4_Silent_p.F986F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	986						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCGGAGTTTGATTATTGCA	0.244																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2956-2958)ttT>ttC		zinc finger, MYM-type 1							22	21	22					1																	35580389		1790	4044	5834	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580389T>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2958T>C	1.37:g.35580389T>C						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F986F	p.F986F			Q5SVZ6	ZMYM1_HUMAN			11	3132	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	986					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.2958T>C	CCDS41302.1																																																																																				0.244	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		11	112	0	0	0	1	0	11	112					C	35580389	T	C	35580389	2	2	79	1	0	0	0	0	0	0	0	1	17752	1809	63	4		4	ZMYM1	1	35580389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1719	35580389	213670232	428	10745											
ZMYM4	9202	broad.mit.edu	37	chr1	35824963	35824963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggagaaaaatagagacCtaacttatgaacgtgaaaaa	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35824963C>A	ENST00000314607.6	+	3	603	c.523C>A	c.(523-525)Cta>Ata	p.L175I	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.L175I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	175					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAGAGACCTAACTTATGA	0.328																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(523-525)Cta>Ata		zinc finger, MYM-type 4							40	41	40					1																	35824963		2193	4292	6485	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35824963C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.523C>A	1.37:g.35824963C>A	ENSP00000322915:p.Leu175Ile					ZMYM4_ENST00000373297.2_Missense_Mutation_p.L175I|ZMYM4-AS1_ENST00000432683.1_RNA	p.L175I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			3	603	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	175					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.523C>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750430	0.15778	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.21932	2.0;1.98	5.54	1.14	0.20703	.	0.811066	0.10649	N	0.650065	T	0.06872	0.0175	N	0.04508	-0.205	0.19945	N	0.99994	B	0.06786	0.001	B	0.01281	0.0	T	0.40478	-0.9561	10	0.07482	T	0.82	-1.1667	2.7633	0.05313	0.3146:0.282:0.3155:0.0879	.	175	Q5VZL5	ZMYM4_HUMAN	I	175	ENSP00000322915:L175I;ENSP00000362394:L175I	ENSP00000322915:L175I	L	+	1	2	ZMYM4	35597550	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.160000	0.16462	0.292000	0.22492	0.650000	0.86243	CTA		0.328	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		17	154	1	0	3.57192e-18	1	3.96073e-18	17	154					A	35824963	C	A	35824963	3	1	79	1	0	0	0	0	1	0	0	0	17755	680	24	3	533	3	ZMYM4	1	35824963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244574	35824963	213425658	429	10746											
ZMYM4	9202	broad.mit.edu	37	chr1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgcacttttgctgAgttgagtttgggcttatgcc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1282					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTTTGCTGAGTTGAGTTTG	0.398																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3844-3846)gAg>gGg		zinc finger, MYM-type 4							194	178	183					1																	35873657		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35873657A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3845A>G	1.37:g.35873657A>G	ENSP00000322915:p.Glu1282Gly					ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	p.E1282G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			26	3925	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1282					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3845A>G	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.261489|5.261489	0.95368|0.95368	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.32023|.	1.47;1.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.49752|.	0.621|.	T|.	0.77205|.	-0.2673|.	10|.	0.87932|.	D|.	0|.	-13.7096|-13.7096	16.1199|16.1199	0.81342|0.81342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1282|.	Q5VZL5|.	ZMYM4_HUMAN|.	G|W	1282;1193|940	ENSP00000322915:E1282G;ENSP00000362394:E1193G|.	ENSP00000322915:E1282G|.	E|X	+|+	2|3	0|0	ZMYM4|ZMYM4	35646244|35646244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.904000|8.904000	0.92590|0.92590	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		63	608	0	0	0	1	0	63	608					G	35873657	A	G	35873657	3	3	79	1	0	0	0	0	1	0	0	0	17755	304	11	4	3947	4	ZMYM4	1	35873657	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48694	35873657	213376964	430	10747											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgctgtccagctctgaCtcggagtgcatcaggctgct	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1004						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3010-3012)gaG>gaT		KIAA0319-like							100	88	92					1																	35900633		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900633C>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3012G>T	1.37:g.35900633C>A	ENSP00000318406:p.Glu1004Asp					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	p.E1004D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3246	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1004					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.3012G>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313141	0.40895	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.01;2.83;2.92	4.94	0.794	0.18638	.	0.047201	0.85682	D	0.000000	T	0.08447	0.0210	L	0.40543	1.245	0.80722	D	1	B;B	0.27765	0.188;0.018	B;B	0.24974	0.057;0.013	T	0.22243	-1.0222	10	0.42905	T	0.14	-16.1955	8.7575	0.34654	0.0:0.617:0.0:0.383	.	1004;446	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	D	1004;441;1004	ENSP00000318406:E1004D;ENSP00000362363:E441D;ENSP00000395883:E1004D	ENSP00000318406:E1004D	E	-	3	2	KIAA0319L	35673220	1.000000	0.71417	0.874000	0.34290	0.972000	0.66771	0.998000	0.29744	0.132000	0.18615	0.563000	0.77884	GAG		0.542	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		59	217	1	0	2.50483e-33	1	2.96817e-33	59	217					A	35900633	C	A	35900633	3	1	79	1	0	0	0	0	1	0	0	0	8199	564	20	3	141	3	KIAA0319L	1	35900633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26976	35900633	213349988	431	10748											
NCDN	23154	broad.mit.edu	37	chr1	36026194	36026194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccggacgatgctgccCgccgctccatgattgatgac	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	ENST00000373243.2	+	3	825	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	148					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATGCTGCCCGCCGCTCCAT	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(442-444)Cgc>Tgc		neurochondrin							87	92	90					1																	36026194		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026194C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.442C>T	1.37:g.36026194C>T	ENSP00000362340:p.Arg148Cys					NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C	p.R148C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	825	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	148					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.442C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414922	0.42817	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.75821	-0.97;-0.97;-0.97	5.51	5.51	0.81932	.	0.380726	0.28312	N	0.015812	T	0.54351	0.1853	N	0.08118	0	0.47245	D	0.99936	B	0.14012	0.009	B	0.09377	0.004	T	0.51942	-0.8641	10	0.35671	T	0.21	.	11.809	0.52171	0.0:0.9201:0.0:0.0799	.	148	Q9UBB6	NCDN_HUMAN	C	131;148;148;131	ENSP00000362350:R131C;ENSP00000348394:R148C;ENSP00000362340:R148C	ENSP00000348394:R148C	R	+	1	0	NCDN	35798781	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.985000	0.29578	2.586000	0.87340	0.561000	0.74099	CGC		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		37	958	0	0	0	1	0	37	958					T	36026194	C	T	36026194	3	4	79	1	0	0	0	0	1	0	0	0	10256	652	23	1	452	1	NCDN	1	36026194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125561	36026194	213224427	432	10749											
NCDN	23154	broad.mit.edu	37	chr1	36028103	36028103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggtgtgccagctgctGcccttcctcgtccgctatgc	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	418					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1252-1254)ctG>ctA		neurochondrin							138	114	122					1																	36028103		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028103G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1254G>A	1.37:g.36028103G>A						NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	p.L418L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			4	1637	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	418					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1254G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284619	0.23392	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.8	3.89	0.44902	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	4	.	.	.	.	10.1781	0.42950	0.0909:0.0:0.9091:0.0	.	.	.	.	Y	12	.	.	C	+	2	0	NCDN	35800690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	1.257000	0.44085	0.561000	0.74099	TGC		0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		29	217	0	0	0	1	0	29	217					A	36028103	G	A	36028103	2	1	79	1	0	0	0	0	0	0	0	1	10256	1306	46	2		2	NCDN	1	36028103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1909	36028103	213222518	433	10750											
NCDN	23154	broad.mit.edu	37	chr1	36029470	36029470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgctaatgtggccacCctggggctcctcatggcccg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	571					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1711-1713)acC>acT		neurochondrin							69	66	67					1																	36029470		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029470C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1713C>T	1.37:g.36029470C>T						NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	p.T571T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			6	2096	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	571					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1713C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838179	0.16891	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	1.49	0.22878	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	4.447	0.11602	0.148:0.4988:0.0:0.3531	.	.	.	.	L	165	.	.	P	+	2	0	NCDN	35802057	0.701000	0.27806	1.000000	0.80357	0.977000	0.68977	-0.339000	0.07832	0.336000	0.23639	0.462000	0.41574	CCC		0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		30	294	0	0	0	1	0	30	294					T	36029470	C	T	36029470	2	4	79	1	0	0	0	0	0	0	0	1	10256	610	22	2		2	NCDN	1	36029470	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1367	36029470	213221151	434	10751											
TFAP2E	339488	broad.mit.edu	37	chr1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcttctccacagtgCccatcccctccaaagccagc	4	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(565-567)Ccc>Tcc		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							76	63	68					1																	36053933		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36053933C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.565C>T	1.37:g.36053933C>T	ENSP00000362332:p.Pro189Ser						p.P189S	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	773	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	189						Missense_Mutation	SNP	ENST00000373235.3	37	c.565C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891777	0.52014	.	.	ENSG00000116819	ENST00000373235	D	0.97575	-4.44	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.75085	2.285	0.80722	D	1	P	0.38535	0.635	B	0.35073	0.195	D	0.96075	0.9049	10	0.59425	D	0.04	-25.056	15.0334	0.71725	0.0:0.9305:0.0:0.0695	.	189	Q6VUC0	AP2E_HUMAN	S	189	ENSP00000362332:P189S	ENSP00000362332:P189S	P	+	1	0	TFAP2E	35826520	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.763000	0.68818	2.683000	0.91414	0.313000	0.20887	CCC		0.597	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		64	260	0	0	0	1	0	64	260					T	36053933	C	T	36053933	3	4	79	1	0	0	0	0	1	0	0	0	15843	739	26	2	579	2	TFAP2E	1	36053933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24463	36053933	213196688	435	10752											
CLSPN	63967	broad.mit.edu	37	chr1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcttcatcatcatcttCatggtcttccagtgccagat	5	12	8	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000318121.3	-	18	3145	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000251195.5_Missense_Mutation_p.E1030K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1030					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATCATCTTCATGGTCTTCC	0.368																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3088-3090)Gaa>Aaa		claspin							197	171	180					1																	36208797		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36208797C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3088G>A	1.37:g.36208797C>T	ENSP00000312995:p.Glu1030Lys					CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1030K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|RP11-435D7.3_ENST00000373226.2_RNA	p.E1030K			Q9HAW4	CLSPN_HUMAN			18	3184	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1030					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3088G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446160	0.63178	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26373	1.74;1.74;1.77;1.78	5.17	5.17	0.71159	.	0.326183	0.31531	N	0.007486	T	0.34193	0.0889	L	0.53249	1.67	0.34227	D	0.6761	P;D	0.56287	0.949;0.975	B;P	0.48815	0.31;0.591	T	0.48328	-0.9045	10	0.48119	T	0.1	-7.7497	15.7587	0.78058	0.0:1.0:0.0:0.0	.	966;1030	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	1030;1030;966;977	ENSP00000251195:E1030K;ENSP00000312995:E1030K;ENSP00000362317:E966K;ENSP00000428848:E977K	ENSP00000251195:E1030K	E	-	1	0	CLSPN	35981384	0.159000	0.22864	0.998000	0.56505	0.373000	0.29922	1.465000	0.35299	2.579000	0.87056	0.655000	0.94253	GAA		0.368	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		76	620	0	0	0	1	0	76	620					T	36208797	C	T	36208797	3	4	79	1	0	0	0	0	1	0	0	0	3569	835	29	2	963	2	CLSPN	1	36208797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154864	36208797	213041824	436	10753											
EIF2C1	26523	broad.mit.edu	37	chr1	36359359	36359359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcgaggtctggttcggCtttcaccagtctgtgcgccc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36359359C>T	ENST00000373204.4	+	5	810	c.597C>T	c.(595-597)ggC>ggT	p.G199G	AGO1_ENST00000373206.1_Silent_p.G124G	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	199					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCTGGTTCGGCTTTCACCAGT	0.632																																						ENST00000373204.4																			0											c.(595-597)ggC>ggT		argonaute RISC catalytic component 1							67	65	66					1																	36359359		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36359359C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.597C>T	1.37:g.36359359C>T						AGO1_ENST00000373206.1_Silent_p.G124G	p.G199G	NM_012199.2	NP_036331.1					5	810	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.597C>T	CCDS398.1																																																																																				0.632	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			30	308	0	0	0	1	0	30	308					T	36359359	C	T	36359359	2	4	79	1	0	0	0	0	0	0	0	1	5021	784	28	2		2	EIF2C1	1	36359359	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150562	36359359	212891262	437	10754											
TEKT2	27285	broad.mit.edu	37	chr1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgcatggacacacggCgcaagctgaccgtgcctgct	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	395					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(1183-1185)Cgc>Tgc		tektin 2 (testicular)							49	37	41					1																	36553677		2202	4300	6502	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36553677C>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1183C>T	1.37:g.36553677C>T	ENSP00000207457:p.Arg395Cys						p.R395C	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			10	1310	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	395					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.1183C>T	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376836	0.42105	.	.	ENSG00000092850	ENST00000207457	T	0.02737	4.18	4.95	4.95	0.65309	.	0.356751	0.28964	N	0.013579	T	0.06600	0.0169	M	0.77103	2.36	0.54753	D	0.999989	B	0.16802	0.019	B	0.17722	0.019	T	0.04467	-1.0949	10	0.62326	D	0.03	.	13.8828	0.63691	0.1531:0.8469:0.0:0.0	.	395	Q9UIF3	TEKT2_HUMAN	C	395	ENSP00000207457:R395C	ENSP00000207457:R395C	R	+	1	0	TEKT2	36326264	0.571000	0.26659	0.820000	0.32676	0.669000	0.39330	0.973000	0.29422	2.266000	0.75297	0.462000	0.41574	CGC		0.607	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		26	110	0	0	0	1	0	26	110					T	36553677	C	T	36553677	3	4	79	1	0	0	0	0	1	0	0	0	15805	768	27	1	1217	1	TEKT2	1	36553677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194318	36553677	212696944	438	10755											
ADPRHL2	54936	broad.mit.edu	37	chr1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagccagaccctgagatccCttctgccttcaatagcctcc	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	295						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(883-885)cCt>cAt		ADP-ribosylhydrolase like 2							127	123	125					1																	36558779		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36558779C>A	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.884C>A	1.37:g.36558779C>A	ENSP00000362273:p.Pro295His						p.P295H	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			6	914	+		Myeloproliferative disorder(586;0.0393)	295					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.884C>A	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501166	0.85176	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.50001	0.76	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74768	-0.3553	10	0.62326	D	0.03	-11.1167	14.2562	0.66053	0.0:0.9283:0.0:0.0716	.	295	Q9NX46	ARHL2_HUMAN	H	295;215;141	ENSP00000362273:P295H	ENSP00000362273:P295H	P	+	2	0	ADPRHL2	36331366	1.000000	0.71417	0.842000	0.33263	0.949000	0.60115	7.783000	0.85696	1.305000	0.44909	0.563000	0.77884	CCT		0.557	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		81	271	1	0	1.75807e-36	1	2.10477e-36	81	271					A	36558779	C	A	36558779	3	1	79	1	0	0	0	0	1	0	0	0	333	681	24	3	906	3	ADPRHL2	1	36558779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5102	36558779	212691842	439	10756											
COL8A2	1296	broad.mit.edu	37	chr1	36563558	36563558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaccgcagtgaaggccGgtgtggcatgggcagacagc	17	10	0	3	rs145553904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563558G>A	ENST00000397799.1	-	4	1948	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	COL8A2_ENST00000481785.1_Missense_Mutation_p.P510L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P575L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	575	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).		P -> L (in FECD1; unknown pathological significance; dbSNP:rs145553904). {ECO:0000269|PubMed:11689488}.		angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGAAGGCCGGTGTGGCATG	0.667													G|||	4	0.000798722	0.0	0.0014	5008	,	,		16265	0.0		0.003	False		,,,				2504	0.0					ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1723-1725)cCg>cTg		collagen, type VIII, alpha 2		G	LEU/PRO	0,4402		0,0,2201	26	25	25		1724	4.2	0.8	1	dbSNP_134	25	12,8586	8.4+/-32.0	0,12,4287	yes	missense	COL8A2	NM_005202.2	98	0,12,6488	AA,AG,GG		0.1396,0.0,0.0923	probably-damaging	575/704	36563558	12,12988	2201	4299	6500	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563558G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1724C>T	1.37:g.36563558G>A	ENSP00000380901:p.Pro575Leu					COL8A2_ENST00000481785.1_Missense_Mutation_p.P510L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P575L	p.P575L			P25067	CO8A2_HUMAN			4	1948	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	575		P -> L (in FECD1; uncertain pathogenicity).	C1q.|Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1724C>T	CCDS403.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.79	3.698095	0.68386	0.0	0.001396	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.85013	-1.93;-1.93;-1.93	4.23	4.23	0.50019	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	D	0.92921	0.6355	10	0.40728	T	0.16	.	17.1366	0.86742	0.0:0.0:1.0:0.0	.	575	P25067	CO8A2_HUMAN	L	575;575;510;299	ENSP00000305913:P575L;ENSP00000380901:P575L;ENSP00000436433:P510L	ENSP00000305913:P575L	P	-	2	0	COL8A2	36336145	1.000000	0.71417	0.764000	0.31436	0.595000	0.36748	9.162000	0.94745	2.333000	0.79357	0.563000	0.77884	CCG		0.667	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	119	0	0	0	1	0	11	119					A	36563558	G	A	36563558	3	1	79	1	0	0	0	0	1	0	0	0	3715	1116	39	1	391	1	COL8A2	1	36563558	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4779	36563558	212687063	440	10757											
COL8A2	1296	broad.mit.edu	37	chr1	36563619	36563619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccccttgcccagcaCggcaccctccacaccgccgt	7	23	0	0	rs574001499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	ENST00000397799.1	-	4	1887	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M|COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	555	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCCCAGCACGGCACCCTCC	0.721																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1663-1665)Gtg>Atg		collagen, type VIII, alpha 2							13	14	13					1																	36563619		2194	4282	6476	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563619C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1663G>A	1.37:g.36563619C>T	ENSP00000380901:p.Val555Met					COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M|COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M	p.V555M			P25067	CO8A2_HUMAN			4	1887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	555			Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1663G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580132	0.46006	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91295	-2.82;-2.82;-2.82	3.99	3.99	0.46301	.	0.214888	0.38778	N	0.001572	D	0.90191	0.6934	L	0.47716	1.5	0.41621	D	0.988961	D	0.71674	0.998	P	0.53809	0.735	D	0.89884	0.4032	10	0.46703	T	0.11	.	11.8389	0.52342	0.1751:0.8249:0.0:0.0	.	555	P25067	CO8A2_HUMAN	M	555;555;490;279	ENSP00000305913:V555M;ENSP00000380901:V555M;ENSP00000436433:V490M	ENSP00000305913:V555M	V	-	1	0	COL8A2	36336206	0.980000	0.34600	0.931000	0.37212	0.980000	0.70556	2.197000	0.42696	2.223000	0.72356	0.462000	0.41574	GTG		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		10	60	0	0	0	1	0	10	60					T	36563619	C	T	36563619	3	4	79	1	0	0	0	0	1	0	0	0	3715	536	19	1	452	1	COL8A2	1	36563619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	36563619	212687002	441	10758											
COL8A2	1296	broad.mit.edu	37	chr1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccagtctcatcgaaggCcccaggggcaccagggggtc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T|COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	535	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1603-1605)Gcc>Acc		collagen, type VIII, alpha 2							7	9	8					1																	36563679		2114	4176	6290	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563679C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1603G>A	1.37:g.36563679C>T	ENSP00000380901:p.Ala535Thr					COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T|COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T	p.A535T			P25067	CO8A2_HUMAN			4	1827	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	535			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1603G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246784	0.10130	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.94280	-3.39;-3.39;-3.39	3.85	0.904	0.19302	.	0.539335	0.16818	N	0.198300	D	0.86527	0.5954	L	0.38649	1.16	0.29604	N	0.847453	B	0.02656	0.0	B	0.01281	0.0	T	0.73193	-0.4060	10	0.12766	T	0.61	.	9.4277	0.38590	0.0:0.7447:0.0:0.2553	.	535	P25067	CO8A2_HUMAN	T	535;535;470;259	ENSP00000305913:A535T;ENSP00000380901:A535T;ENSP00000436433:A470T	ENSP00000305913:A535T	A	-	1	0	COL8A2	36336266	0.412000	0.25392	0.817000	0.32601	0.560000	0.35617	0.763000	0.26517	0.419000	0.25927	0.462000	0.41574	GCC		0.746	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		9	70	0	0	0	1	0	9	70					T	36563679	C	T	36563679	3	4	79	1	0	0	0	0	1	0	0	0	3715	739	26	2	512	2	COL8A2	1	36563679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	36563679	212686942	442	10759											
COL8A2	1296	broad.mit.edu	37	chr1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccttttgggcccacagctCctggctcccccctggggcct	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(799-801)gGa>gAa		collagen, type VIII, alpha 2							15	18	17					1																	36564482		2195	4291	6486	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564482C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	1.37:g.36564482C>T	ENSP00000380901:p.Gly267Glu					COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E	p.G267E			P25067	CO8A2_HUMAN			4	1024	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.800G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		18	140	0	0	0	1	0	18	140					T	36564482	C	T	36564482	3	4	79	1	0	0	0	0	1	0	0	0	3715	855	30	2	1315	2	COL8A2	1	36564482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	803	36564482	212686139	443	10760											
MAP7D1	55700	broad.mit.edu	37	chr1	36640530	36640530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgtgtcggcagttaaCctgcccaaacacgtggactc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	257					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612																																						ENST00000373151.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(769-771)aaC>aaT		MAP7 domain containing 1							64	64	64					1																	36640530		2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36640530C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.771C>T	1.37:g.36640530C>T						MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Intron	p.N257N	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN			6	987	+		Myeloproliferative disorder(586;0.0393)	257					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.771C>T	CCDS30673.1																																																																																				0.612	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		32	189	0	0	0	1	0	32	189					T	36640530	C	T	36640530	2	4	79	1	0	0	0	0	0	0	0	1	9308	506	18	2		2	MAP7D1	1	36640530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76048	36640530	212610091	444	10761											
MAP7D1	55700	broad.mit.edu	37	chr1	36642393	36642393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagaagcgccagtcgctGcccgcctccccacgtgcccg	10	20	1	1	rs201024870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000373151.2	+	8	1545	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Silent_p.L406L|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	443					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTCGCTGCCCGCCTCCC	0.657																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1216-1218)ctG>ctA		MAP7 domain containing 1							26	36	33					1																	36642393		2187	4280	6467	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36642393G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1329G>A	1.37:g.36642393G>A						MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Silent_p.L443L	p.L406L			Q3KQU3	MA7D1_HUMAN			7	1671	+		Myeloproliferative disorder(586;0.0393)	443					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.1218G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033468	0.19590	.	.	ENSG00000116871	ENST00000530975	.	.	.	5.04	-0.339	0.12647	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-14.0724	5.145	0.14979	0.241:0.2783:0.4807:0.0	.	.	.	.	T	26	.	.	A	+	1	0	MAP7D1	36414980	0.997000	0.39634	0.940000	0.37924	0.584000	0.36387	0.232000	0.17891	-0.243000	0.09653	-0.254000	0.11334	GCC		0.657	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	54	0	0	0	1	0	7	54					A	36642393	G	A	36642393	2	1	79	1	0	0	0	0	0	0	0	1	9308	1306	46	2		2	MAP7D1	1	36642393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1863	36642393	212608228	445	10762											
MAP7D1	55700	broad.mit.edu	37	chr1	36642421	36642421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgtgcccgcctctctGccagcaccgcctctgagctc	8	22	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642421G>A	ENST00000373151.2	+	8	1573	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Missense_Mutation_p.A416T|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	453					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGCCTCTCTGCCAGCACCGC	0.647																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1246-1248)Gcc>Acc		MAP7 domain containing 1							10	18	15					1																	36642421		2124	4183	6307	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36642421G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1357G>A	1.37:g.36642421G>A	ENSP00000362244:p.Ala453Thr					MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.A453T	p.A416T			Q3KQU3	MA7D1_HUMAN			7	1699	+		Myeloproliferative disorder(586;0.0393)	453					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.1246G>A	CCDS30673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.407987|1.407987	0.25378|0.25378	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151|ENST00000530975	T;T;T|.	0.16196|.	3.56;2.36;3.56|.	4.52|4.52	-5.79|-5.79	0.02354|0.02354	.|.	0.456133|.	0.16372|.	N|.	0.217268|.	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25441|.	0.126;0.0;0.0;0.126|.	B;B;B;B|.	0.19946|.	0.027;0.001;0.001;0.027|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|5	0.45353|.	T|.	0.12|.	0.0076|0.0076	0.7636|0.7636	0.01011|0.01011	0.3726:0.1128:0.1722:0.3424|0.3726:0.1128:0.1722:0.3424	.|.	453;416;421;453|.	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;MA7D1_HUMAN|.	T|Y	416;421;453|35	ENSP00000320228:A416T;ENSP00000362243:A421T;ENSP00000362244:A453T|.	ENSP00000320228:A416T|.	A|C	+|+	1|2	0|0	MAP7D1|MAP7D1	36415008|36415008	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.182000|-1.182000	0.03082|0.03082	-0.856000|-0.856000	0.04120|0.04120	-0.314000|-0.314000	0.08810|0.08810	GCC|TGC		0.647	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		6	48	0	0	0	1	0	6	48					A	36642421	G	A	36642421	3	1	79	1	0	0	0	0	1	0	0	0	9308	1319	46	2	1387	2	MAP7D1	1	36642421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	36642421	212608200	446	10763											
THRAP3	9967	broad.mit.edu	37	chr1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagacagaggaaagagaGgagagcaccacgggctttga	16	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	803	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAAGAGAGGAGAGCACCA	0.512			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2407-2409)gaG>gaT		thyroid hormone receptor associated protein 3							87	81	83					1																	36766592		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766592G>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2409G>T	1.37:g.36766592G>T	ENSP00000346634:p.Glu803Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			10	2633	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	803					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2409G>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479885	0.63849	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.51	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.16041	0.0386	L	0.54323	1.7	0.35027	D	0.758439	B	0.12013	0.005	B	0.15870	0.014	T	0.11717	-1.0576	10	0.33141	T	0.24	-19.3771	10.2893	0.43586	0.2348:0.0:0.7652:0.0	.	803	Q9Y2W1	TR150_HUMAN	D	803	ENSP00000346634:E803D;ENSP00000433825:E803D	ENSP00000346634:E803D	E	+	3	2	THRAP3	36539179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.993000	0.40747	0.767000	0.33267	0.650000	0.86243	GAG		0.512	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		34	267	1	0	3.11337e-16	1	3.41587e-16	34	267					T	36766592	G	T	36766592	3	4	79	1	0	0	0	0	1	0	0	0	15926	991	35	3	2439	3	THRAP3	1	36766592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124171	36766592	212484029	447	10764											
MRPS15	64960	broad.mit.edu	37	chr1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgggctgctgctgcaGcctttaaggctcttcttcgc	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	229					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(685-687)gCt>gAt		mitochondrial ribosomal protein S15							123	118	120					1																	36921477		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921477G>T	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.686C>A	1.37:g.36921477G>T	ENSP00000362208:p.Ala229Asp					MRPS15_ENST00000488606.1_5'UTR	p.A229D	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			8	847	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	229					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.686C>A	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713210	0.68730	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.47	4.51	0.55191	.	0.487586	0.21396	N	0.075224	T	0.50017	0.1591	M	0.64997	1.995	0.30780	N	0.742056	P	0.50066	0.931	P	0.45310	0.476	T	0.59815	-0.7383	9	0.56958	D	0.05	-13.38	13.6971	0.62587	0.0:0.0:0.8472:0.1528	.	229	P82914	RT15_HUMAN	D	229	.	ENSP00000362208:A229D	A	-	2	0	MRPS15	36694064	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.724000	0.38064	2.730000	0.93505	0.643000	0.83706	GCT		0.473	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		62	462	1	0	2.53126e-37	1	3.03882e-37	62	462					T	36921477	G	T	36921477	3	4	79	1	0	0	0	0	1	0	0	0	9866	971	34	3	91	3	MRPS15	1	36921477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154885	36921477	212329144	448	10765											
CSF3R	1441	broad.mit.edu	37	chr1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgaaactcttcagagtgAagctggtgggtaggtgggtc	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373106.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373103.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000487540.2_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	156	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(466-468)tTc>tCc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						102	99	100					1																	36939383		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939383A>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.467T>C	1.37:g.36939383A>G	ENSP00000362198:p.Phe156Ser					CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373106.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S	p.F156S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			5	1014	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	156			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.467T>C	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900556	0.72754	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.585977	0.19347	N	0.116499	T	0.54631	0.1870	L	0.58428	1.81	0.39473	D	0.967753	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.69654	0.965;0.927;0.931;0.917	T	0.55958	-0.8058	10	0.49607	T	0.09	-32.3395	13.3768	0.60743	1.0:0.0:0.0:0.0	.	156;156;156;156	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	156	ENSP00000362198:F156S;ENSP00000362196:F156S;ENSP00000362195:F156S;ENSP00000355406:F156S;ENSP00000332180:F156S;ENSP00000401588:F156S;ENSP00000345013:F156S;ENSP00000397568:F156S	ENSP00000332180:F156S	F	-	2	0	CSF3R	36711970	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	1.549000	0.36212	2.107000	0.64212	0.496000	0.49642	TTC		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		62	214	0	0	0	1	0	62	214					G	36939383	A	G	36939383	3	3	79	1	0	0	0	0	1	0	0	0	3948	246	9	4	2285	4	CSF3R	1	36939383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17906	36939383	212311238	449	10766											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaccagcacatcctgCgggaactggagaagaagaag	12	11	0	4	rs141438153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20754	0.0		0.001	False		,,,				2504	0.0					ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(598-600)Cgg>Tgg		zinc finger CCCH-type containing 12A							160	148	152					1																	37947216		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947216C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.598C>T	1.37:g.37947216C>T	ENSP00000362179:p.Arg200Trp						p.R200W	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			4	714	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	200						Missense_Mutation	SNP	ENST00000373087.6	37	c.598C>T	CCDS417.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.30	3.354347	0.61293	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.42	2.49	0.30216	Ribonuclease Zc3h12a-like (1);	0.177358	0.50627	N	0.000109	T	0.47948	0.1473	L	0.36672	1.1	0.36793	D	0.884925	D	0.89917	1.0	D	0.77557	0.99	T	0.51124	-0.8745	10	0.59425	D	0.04	-16.5197	6.2099	0.20623	0.112:0.6504:0.1088:0.1288	.	200	Q5D1E8	ZC12A_HUMAN	W	200	ENSP00000362179:R200W	ENSP00000362174:R200W	R	+	1	2	ZC3H12A	37719803	0.525000	0.26290	0.956000	0.39512	0.919000	0.55068	0.474000	0.22148	0.014000	0.14944	-1.134000	0.01955	CGG		0.602	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		36	334	0	0	0	1	0	36	334					T	37947216	C	T	37947216	3	4	79	1	0	0	0	0	1	0	0	0	17614	759	27	1	608	1	ZC3H12A	1	37947216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1007833	37947216	211303405	450	10767											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccctggagagccagatgtCggaactttggggggttcgag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)tCg>tTg		zinc finger CCCH-type containing 12A							25	30	28					1																	37948755		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948755C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1343C>T	1.37:g.37948755C>T	ENSP00000362179:p.Ser448Leu						p.S448L	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			6	1459	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	448						Missense_Mutation	SNP	ENST00000373087.6	37	c.1343C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320778	0.81469	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.20598	2.06	5.52	5.52	0.82312	.	0.603852	0.16474	N	0.212828	T	0.45816	0.1361	M	0.68952	2.095	0.39404	D	0.966641	D;D	0.71674	0.998;0.985	D;P	0.64877	0.93;0.456	T	0.41662	-0.9496	10	0.72032	D	0.01	-19.643	17.6306	0.88106	0.0:1.0:0.0:0.0	.	243;448	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	L	448	ENSP00000362179:S448L	ENSP00000362174:S448L	S	+	2	0	ZC3H12A	37721342	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	2.423000	0.44705	2.579000	0.87056	0.561000	0.74099	TCG		0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		64	272	0	0	0	1	0	64	272					T	37948755	C	T	37948755	3	4	79	1	0	0	0	0	1	0	0	0	17614	893	31	1	1361	1	ZC3H12A	1	37948755	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1539	37948755	211301866	451	10768											
SNIP1	79753	broad.mit.edu	37	chr1	38003439	38003439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgactcatggagcaagacGtattctctgctactgaatcc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	367					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1099-1101)taC>taT		Smad nuclear interacting protein 1							275	245	255					1																	38003439		2203	4300	6503	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003439G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1101C>T	1.37:g.38003439G>A							p.Y367Y	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1173	-		Myeloproliferative disorder(586;0.0393)	367					Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.1101C>T	CCDS419.1																																																																																				0.418	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		108	411	0	0	0	1	0	108	411					A	38003439	G	A	38003439	2	1	79	1	0	0	0	0	0	0	0	1	14898	1140	40	1		1	SNIP1	1	38003439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54684	38003439	211247182	452	10769											
SNIP1	79753	broad.mit.edu	37	chr1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatcccgtccctgaccCtgcccactcccaggcctctc	6	22	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	161	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(481-483)caG>caT		Smad nuclear interacting protein 1							120	125	123					1																	38006201		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38006201C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.483G>T	1.37:g.38006201C>A	ENSP00000296215:p.Gln161His					SNIP1_ENST00000468040.1_5'UTR	p.Q161H	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			3	555	-		Myeloproliferative disorder(586;0.0393)	161			Arg-rich.		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.483G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439562	0.12104	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.14766	2.48	4.39	4.39	0.52855	.	0.261227	0.37761	N	0.001952	T	0.07818	0.0196	N	0.14661	0.345	0.30487	N	0.771717	P	0.39624	0.681	B	0.37601	0.254	T	0.04930	-1.0917	10	0.41790	T	0.15	-9.8716	8.976	0.35935	0.0:0.7008:0.215:0.0843	.	161	Q8TAD8	SNIP1_HUMAN	H	161;145	ENSP00000296215:Q161H	ENSP00000296215:Q161H	Q	-	3	2	SNIP1	37778788	0.345000	0.24835	0.995000	0.50966	0.036000	0.12997	-0.332000	0.07904	2.733000	0.93635	0.655000	0.94253	CAG		0.587	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		139	582	1	0	8.12429e-59	1	1.01946e-58	139	582					A	38006201	C	A	38006201	3	1	79	1	0	0	0	0	1	0	0	0	14898	680	24	3	715	3	SNIP1	1	38006201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	38006201	211244420	453	10770											
GNL2	29889	broad.mit.edu	37	chr1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcattctcccaagaaTcaatcttgtatgttttgctg	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	413					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTCCCAAGAATCAATCTTGTA	0.408																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1237-1239)gAt>gGt		guanine nucleotide binding protein-like 2 (nucleolar)							97	91	93					1																	38040330		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38040330T>C	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1238A>G	1.37:g.38040330T>C	ENSP00000362153:p.Asp413Gly						p.D413G	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			11	1336	-		Myeloproliferative disorder(586;0.0393)	413					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1238A>G	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230874	0.58777	.	.	ENSG00000134697	ENST00000373062	T	0.59502	0.26	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.285499	0.44902	D	0.000415	T	0.57799	0.2078	L	0.60455	1.87	0.42968	D	0.994427	B	0.30973	0.302	B	0.32928	0.155	T	0.58940	-0.7547	10	0.51188	T	0.08	-15.827	16.5764	0.84681	0.0:0.0:0.0:1.0	.	413	Q13823	NOG2_HUMAN	G	413	ENSP00000362153:D413G	ENSP00000362153:D413G	D	-	2	0	GNL2	37812917	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.340000	0.65958	2.371000	0.80710	0.533000	0.62120	GAT		0.408	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		8	252	0	0	0	1	0	8	252					C	38040330	T	C	38040330	3	2	79	1	0	0	0	0	1	0	0	0	6565	1435	50	4	981	4	GNL2	1	38040330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34129	38040330	211210291	454	10771											
GNL2	29889	broad.mit.edu	37	chr1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgcgcccaacgtacctTtgtttcacctgcaatgggag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	346	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1036-1038)Aag>Cag		guanine nucleotide binding protein-like 2 (nucleolar)							168	149	155					1																	38042031		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38042031T>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1036A>C	1.37:g.38042031T>G	ENSP00000362153:p.Lys346Gln						p.K346Q	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			9	1134	-		Myeloproliferative disorder(586;0.0393)	346			G.		Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1036A>C	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.278906|5.278906	0.95489|0.95489	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000373062;ENST00000545489|ENST00000538069	T|.	0.13778|.	2.56|.	6.14|6.14	6.14|6.14	0.99180|0.99180	GTP-binding domain, HSR1-related (1);|.	0.087721|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P|.	0.35894|.	0.526|.	P|.	0.52031|.	0.688|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.66056|.	D|.	0.02|.	-15.4024|-15.4024	16.806|16.806	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	346|.	Q13823|.	NOG2_HUMAN|.	Q|H	346;187|197	ENSP00000362153:K346Q|.	ENSP00000362153:K346Q|.	K|Q	-|-	1|3	0|2	GNL2|GNL2	37814618|37814618	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.896000|0.896000	0.52359|0.52359	8.008000|8.008000	0.88588|0.88588	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAG|CAA		0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		44	423	0	0	0	1	0	44	423					G	38042031	T	G	38042031	3	3	79	1	0	0	0	0	1	0	0	0	6565	1850	64	4	1191	4	GNL2	1	38042031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1701	38042031	211208590	455	10772											
RSPO1	284654	broad.mit.edu	37	chr1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtcggggttgcgggcgtCgaagtatccaggtgggcagg	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000401069.1	-	4	965	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	85					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCGGGCGTCGAAGTATCCA	0.622																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(253-255)Gac>Aac		R-spondin 1							53	56	55					1																	38082189		2013	4170	6183	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082189C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.253G>A	1.37:g.38082189C>T	ENSP00000383847:p.Asp85Asn					RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N	p.D85N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1040	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	85					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.253G>A	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465498	0.96257	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.79	5.79	0.91817	Growth factor, receptor (1);	0.053446	0.85682	D	0.000000	T	0.77150	0.4088	N	0.21508	0.67	0.58432	D	0.99999	D;D;D	0.67145	0.996;0.975;0.957	P;P;B	0.52031	0.688;0.477;0.284	T	0.79916	-0.1601	10	0.72032	D	0.01	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	85;58;85	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	58;85;85;85;85;85	ENSP00000362150:D58N;ENSP00000383848:D85N;ENSP00000348944:D85N;ENSP00000383849:D85N;ENSP00000383847:D85N;ENSP00000383846:D85N	ENSP00000348944:D85N	D	-	1	0	RSPO1	37854776	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.609000	0.82925	2.753000	0.94483	0.555000	0.69702	GAC		0.622	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		66	277	0	0	0	1	0	66	277					T	38082189	C	T	38082189	3	4	79	1	0	0	0	0	1	0	0	0	13759	884	31	1	554	1	RSPO1	1	38082189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40158	38082189	211168432	456	10773											
RSPO1	284654	broad.mit.edu	37	chr1	38082217	38082217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgggcaggacggcaaGcagacgcccacctggcggat	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000401069.1	-	4	937	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401068.1_Silent_p.C75C	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	75					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(223-225)tgC>tgT		R-spondin 1							67	71	70					1																	38082217		2055	4190	6245	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082217G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.225C>T	1.37:g.38082217G>A						RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000401068.1_Silent_p.C75C|RSPO1_ENST00000401069.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C	p.C75C	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1012	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	75					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.225C>T	CCDS41304.1																																																																																				0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		46	378	0	0	0	1	0	46	378					A	38082217	G	A	38082217	2	1	79	1	0	0	0	0	0	0	0	1	13759	963	34	2		2	RSPO1	1	38082217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	38082217	211168404	457	10774											
CDCA8	55143	broad.mit.edu	37	chr1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaacactgttaccccagCcgtgggccgattggaggtgt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	173					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(517-519)gCc>gTc		cell division cycle associated 8							196	175	182					1																	38168953		2203	4300	6503	SO:0001583	missense	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38168953C>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.518C>T	1.37:g.38168953C>T	ENSP00000362146:p.Ala173Val					CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			7	791	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	173					D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	c.518C>T	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444363	0.63178	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.61627	0.09;0.09	5.81	5.81	0.92471	.	0.051856	0.85682	D	0.000000	T	0.71710	0.3372	L	0.54323	1.7	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.71573	-0.4552	10	0.54805	T	0.06	-11.3016	15.5657	0.76290	0.0:1.0:0.0:0.0	.	173	Q53HL2	BOREA_HUMAN	V	173	ENSP00000362146:A173V;ENSP00000316121:A173V	ENSP00000316121:A173V	A	+	2	0	CDCA8	37941540	0.973000	0.33851	0.982000	0.44146	0.059000	0.15707	3.905000	0.56333	2.735000	0.93741	0.637000	0.83480	GCC		0.537	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		67	677	0	0	0	1	0	67	677					T	38168953	C	T	38168953	3	4	79	1	0	0	0	0	1	0	0	0	3101	739	26	2	544	2	CDCA8	1	38168953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86736	38168953	211081668	458	10775											
EPHA10	284656	broad.mit.edu	37	chr1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatcttgctcaggatgCtgtggatctgggagaacctg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	898	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2692-2694)aGc>aTc		EPH receptor A10							46	55	52					1																	38185149		2057	4197	6254	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38185149C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2693G>T	1.37:g.38185149C>A	ENSP00000362139:p.Ser898Ile					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000540011.1_Intron	p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			15	2692	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	898			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2693G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400763	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83506	-1.73;-1.73;-1.73	5.04	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.616022	0.13585	N	0.377082	D	0.82444	0.5038	L	0.57130	1.785	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.81006	-0.1128	10	0.87932	D	0	.	5.1972	0.15245	0.0:0.6077:0.1722:0.2201	.	898	Q5JZY3	EPHAA_HUMAN	I	393;898;898	ENSP00000330379:S393I;ENSP00000397746:S898I;ENSP00000362139:S898I	ENSP00000330379:S393I	S	-	2	0	EPHA10	37957736	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.617000	0.24359	1.163000	0.42636	0.491000	0.48974	AGC		0.612	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		48	161	1	0	1.4374e-25	1	1.6504e-25	48	161					A	38185149	C	A	38185149	3	1	79	1	0	0	0	0	1	0	0	0	5184	797	28	3	345	3	EPHA10	1	38185149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16196	38185149	211065472	459	10776											
EPHA10	284656	broad.mit.edu	37	chr1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactggcccagcgtgagggcCtcggccaggaagccgagcct	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2080-2082)gaG>gaT		EPH receptor A10							16	20	19					1																	38187396		2026	4176	6202	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38187396C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2082G>T	1.37:g.38187396C>A	ENSP00000362139:p.Glu694Asp					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000540011.1_3'UTR	p.E694D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			11	2081	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	694			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2082G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018074	0.35606	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.81163	-1.46;-1.46;-1.46	4.07	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.87865	0.6285	M	0.92649	3.33	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.88495	0.3078	10	0.87932	D	0	.	8.8099	0.34961	0.0:0.7584:0.1517:0.0899	.	694	Q5JZY3	EPHAA_HUMAN	D	189;694;694	ENSP00000330379:E189D;ENSP00000397746:E694D;ENSP00000362139:E694D	ENSP00000330379:E189D	E	-	3	2	EPHA10	37959983	0.996000	0.38824	1.000000	0.80357	0.399000	0.30720	0.630000	0.24553	1.054000	0.40438	-0.339000	0.08088	GAG		0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		34	121	1	0	2.42023e-17	1	2.67004e-17	34	121					A	38187396	C	A	38187396	3	1	79	1	0	0	0	0	1	0	0	0	5184	680	24	3	972	3	EPHA10	1	38187396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2247	38187396	211063225	460	10777											
EPHA10	284656	broad.mit.edu	37	chr1	38192845	38192845	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatggtcactacggtgacGacaatggcggggctctggtc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	567					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACGGTGACGACAATGGCGG	0.642																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1699-1701)gtC>gtT		EPH receptor A10							52	67	62					1																	38192845		2062	4193	6255	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192845G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1701C>T	1.37:g.38192845G>A						EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000540011.1_Silent_p.V62V	p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			8	1700	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	567					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1701C>T	CCDS41305.1																																																																																				0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		14	196	0	0	0	1	0	14	196					A	38192845	G	A	38192845	2	1	79	1	0	0	0	0	0	0	0	1	5184	1045	37	1		1	EPHA10	1	38192845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5449	38192845	211057776	461	10778											
EPHA10	284656	broad.mit.edu	37	chr1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagttccacgaagatgCgctgcccgcggccacggctt	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(298-300)cGc>cAc		EPH receptor A10							92	86	88					1																	38227628		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227628C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.299G>A	1.37:g.38227628C>T	ENSP00000362139:p.Arg100His					EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	298	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	100					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.299G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	EPHA10	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		79	644	0	0	0	1	0	79	644					T	38227628	C	T	38227628	3	4	79	1	0	0	0	0	1	0	0	0	5184	768	27	1	2825	1	EPHA10	1	38227628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34783	38227628	211022993	462	10779											
YRDC	79693	broad.mit.edu	37	chr1	38272774	38272774	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaaacttgactcacaGgcgtaaaagggtttaggtcc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	168	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.e2+1		yrdC N(6)-threonylcarbamoyltransferase domain containing							94	94	94					1																	38272774		2203	4300	6503	SO:0001630	splice_region_variant	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272774G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.504+1C>T	1.37:g.38272774G>A						C1orf122_ENST00000373043.1_5'UTR	p.P168_splice	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			2	507	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	168			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Splice_Site	SNP	ENST00000373044.2	37	c.504_splice	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292376	0.23564	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	2.01	0.26516	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.418875	0.26847	N	0.022194	T	0.61022	0.2314	M	0.78285	2.405	0.47698	D	0.999497	B	0.11235	0.004	B	0.19666	0.026	T	0.57335	-0.7829	9	0.54805	T	0.06	.	10.0128	0.41997	0.0724:0.259:0.6685:0.0	.	168	Q86U90	YRDC_HUMAN	L	168	.	ENSP00000362135:P168L	P	-	2	0	YRDC	38045361	0.999000	0.42202	0.991000	0.47740	0.273000	0.26683	3.742000	0.55097	0.134000	0.18681	-0.251000	0.11542	CCT		0.517	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640	Missense_Mutation	51	239	0	0	0	1	0	51	239					A	38272774	G	A	38272774	5	1	79	1	0	0	0	0	0	0	1	0	17548	1014	35	2	352	2	YRDC	1	38272774	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45146	38272774	210977847	463	10780											
MTF1	4520	broad.mit.edu	37	chr1	38287880	38287880	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgactaggctggactgcagGatagctgtgttgggagttgg	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	560					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGACTGCAGGATAGCTGTGT	0.473																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1678-1680)atC>atA		metal-regulatory transcription factor 1							159	155	156					1																	38287880		2203	4300	6503	SO:0001819	synonymous_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38287880G>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1680C>A	1.37:g.38287880G>T							p.I560I	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1820	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	560					B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	c.1680C>A	CCDS30676.1																																																																																				0.473	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		50	228	1	0	4.21674e-32	1	4.97474e-32	50	228					T	38287880	G	T	38287880	2	4	79	1	0	0	0	0	0	0	0	1	9963	1164	41	3		3	MTF1	1	38287880	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15106	38287880	210962741	464	10781											
MTF1	4520	broad.mit.edu	37	chr1	38305726	38305726	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacagccctcctgattacaGacaaaggtgtactctcctcg	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	171					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGATTACAGACAAAGGTGT	0.557																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(511-513)gtC>gtT		metal-regulatory transcription factor 1							164	140	148					1																	38305726		2203	4300	6503	SO:0001819	synonymous_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305726G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.513C>T	1.37:g.38305726G>A							p.V171V	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			3	653	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	171					B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	c.513C>T	CCDS30676.1																																																																																				0.557	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		67	304	0	0	0	1	0	67	304					A	38305726	G	A	38305726	2	1	79	1	0	0	0	0	0	0	0	1	9963	929	33	2		2	MTF1	1	38305726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17846	38305726	210944895	465	10782											
INPP5B	3633	broad.mit.edu	37	chr1	38341380	38341380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtaaagctcgtcatttacGaccctcacctgaaagggaaa	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	ENST00000373026.1	-	16	1926	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000373023.2_Silent_p.V642V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	642	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCATTTACGACCCTCACCT	0.483																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1924-1926)gtC>gtT		inositol polyphosphate-5-phosphatase, 75kDa							84	85	84					1																	38341380		1936	4131	6067	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38341380G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1926C>T	1.37:g.38341380G>A						INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000373026.1_Silent_p.V642V|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000458109.2_3'UTR	p.V642V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			17	2019	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	642					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.1926C>T																																																																																					0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	151	0	0	0	1	0	6	151					A	38341380	G	A	38341380	2	1	79	1	0	0	0	0	0	0	0	1	7785	1045	37	1		1	INPP5B	1	38341380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35654	38341380	210909241	466	10783											
FHL3	2275	broad.mit.edu	37	chr1	38463411	38463411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagagttctccaaaacaGgccacacagtagggatcttc	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463411G>A	ENST00000373016.3	-	5	801	c.633C>T	c.(631-633)gcC>gcT	p.A211A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	211	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCAAAACAGGCCACACAGT	0.587																																						ENST00000373016.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(631-633)gcC>gcT		four and a half LIM domains 3							80	78	79					1																	38463411		2203	4300	6503	SO:0001819	synonymous_variant	2275				muscle organ development		zinc ion binding	g.chr1:38463411G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.633C>T	1.37:g.38463411G>A						FHL3_ENST00000485803.1_5'UTR	p.A211A	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			5	801	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	211			LIM zinc-binding 3.		D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	c.633C>T	CCDS30678.1																																																																																				0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		10	311	0	0	0	1	0	10	311					A	38463411	G	A	38463411	2	1	79	1	0	0	0	0	0	0	0	1	5905	987	35	2		2	FHL3	1	38463411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122031	38463411	210787210	467	10784											
FHL3	2275	broad.mit.edu	37	chr1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccagacattctcgatgCcacggctgatcacggtatgt	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	181	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587																																						ENST00000373016.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(541-543)tgG>tgA		four and a half LIM domains 3							77	75	76					1																	38463501		2203	4300	6503	SO:0001587	stop_gained	2275				muscle organ development		zinc ion binding	g.chr1:38463501C>T	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.543G>A	1.37:g.38463501C>T	ENSP00000362107:p.Trp181*					FHL3_ENST00000485803.1_5'UTR	p.W181*	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			5	711	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	181			LIM zinc-binding 3.		D3DPT6|Q6I9T0|Q9BVA2	Nonsense_Mutation	SNP	ENST00000373016.3	37	c.543G>A	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046342	0.93740	.	.	ENSG00000183386	ENST00000373016	.	.	.	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.132	0.65260	0.1508:0.8492:0.0:0.0	.	.	.	.	X	181	.	ENSP00000362107:W181X	W	-	3	0	FHL3	38236088	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.849000	0.62882	2.343000	0.79666	0.313000	0.20887	TGG		0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		27	276	0	0	0	1	0	27	276					T	38463501	C	T	38463501	4	4	79	1	0	0	0	0	0	1	0	0	5905	740	26	2	307	2	FHL3	1	38463501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	38463501	210787120	468	10785											
UTP11L	51118	broad.mit.edu	37	chr1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgactaccgtaaaaaacaAgaatacctcaaagctcttcg	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	48					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(142-144)caA>caC		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							58	65	62					1																	38483358		2202	4300	6502	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38483358A>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.144A>C	1.37:g.38483358A>C	ENSP00000362105:p.Gln48His					UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H|UTP11L_ENST00000488453.1_3'UTR	p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			3	205	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	48					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.144A>C	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262537	0.59431	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.95	-2.18	0.07037	.	0.050202	0.85682	D	0.000000	T	0.75273	0.3827	M	0.91300	3.195	0.51767	D	0.999934	D	0.54397	0.966	P	0.60345	0.873	T	0.74022	-0.3798	9	0.72032	D	0.01	-0.1329	7.7131	0.28690	0.3306:0.0:0.5414:0.128	.	48	Q9Y3A2	UTP11_HUMAN	H	48	.	ENSP00000362105:Q48H	Q	+	3	2	UTP11L	38255945	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	0.854000	0.27791	-0.624000	0.05611	-1.937000	0.00501	CAA		0.348	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		30	189	0	0	0	1	0	30	189					C	38483358	A	C	38483358	3	2	79	1	0	0	0	0	1	0	0	0	17148	69	3	4	154	4	UTP11L	1	38483358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19857	38483358	210767263	469	10786											
POU3F1	5453	broad.mit.edu	37	chr1	38511485	38511485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacttgttgagcagcgGcttgagcttgcacatgttct	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38511485G>A	ENST00000373012.2	-	1	965	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	311	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGAGCAGCGGCTTGAGCTTG	0.637																																						ENST00000373012.2																			0				cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(931-933)Ccg>Tcg		POU class 3 homeobox 1							54	47	50					1																	38511485		2203	4300	6503	SO:0001583	missense	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511485G>A	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"Homeoboxes / POU class"	9214	protein-coding gene	gene with protein product		602479	"POU domain class 3, transcription factor 1"	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.931C>T	1.37:g.38511485G>A	ENSP00000362103:p.Pro311Ser						p.P311S	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN			1	965	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	311			POU-specific.		Q5TAG2	Missense_Mutation	SNP	ENST00000373012.2	37	c.931C>T	CCDS30679.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566948	0.65651	.	.	ENSG00000185668	ENST00000373012	D	0.89875	-2.58	3.78	3.78	0.43462	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	U	0.000000	D	0.94384	0.8194	M	0.91196	3.185	0.54753	D	0.999985	D	0.56035	0.974	P	0.60173	0.87	D	0.95204	0.8319	10	0.62326	D	0.03	.	13.4986	0.61440	0.0:0.0:1.0:0.0	.	311	Q03052	PO3F1_HUMAN	S	311	ENSP00000362103:P311S	ENSP00000362103:P311S	P	-	1	0	POU3F1	38284072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.219000	0.78000	2.113000	0.64589	0.400000	0.26472	CCG		0.637	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		6	254	0	0	0	1	0	6	254					A	38511485	G	A	38511485	3	1	79	1	0	0	0	0	1	0	0	0	12316	1203	42	2	428	2	POU3F1	1	38511485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28127	38511485	210739136	470	10787											
GJA9	81025	broad.mit.edu	37	chr1	39340391	39340391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaagtgattgagaatcTccttgtgaaggaggaagggt	14	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000360786.3	-	1	1632	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.G460G|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	460					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGAGAATCTCCTTGTGAAG	0.488																																						ENST00000357771.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1378-1380)ggA>ggG		gap junction protein, alpha 9, 59kDa							126	122	123					1																	39340391		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340391T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1380A>G	1.37:g.39340391T>C						GJA9_ENST00000360786.3_Silent_p.G460G|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000433671.2_RNA	p.G460G	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1660	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	460					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.1380A>G	CCDS432.1																																																																																				0.488	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		44	315	0	0	0	1	0	44	315					C	39340391	T	C	39340391	2	2	79	1	0	0	0	0	0	0	0	1	6435	1538	54	4		4	GJA9	1	39340391	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	828906	39340391	209910230	471	10788											
MACF1	23499	broad.mit.edu	37	chr1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaaatcagacaaaactgGatcaatgtcaaaaattttcc	6	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000372915.3	+	30	4087	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1334					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAAACTGGATCAATGTCA	0.368																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3985-3987)Gat>Aat		microtubule-actin crosslinking factor 1							116	114	115					1																	39785375		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39785375G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4000G>A	1.37:g.39785375G>A	ENSP00000362006:p.Asp1334Asn					MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000372915.3_Missense_Mutation_p.D1334N|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N	p.D1329N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		31	4762	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1334					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3985G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348761|4.348761	0.82132|0.82132	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.70254|0.70254	0.3203|0.3203	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.96;0.851|.	D;P;P|.	0.69479|.	0.964;0.737;0.493|.	T|T	0.64795|0.64795	-0.6323|-0.6323	9|5	0.87932|.	D|.	0|.	.|.	20.0165|20.0165	0.97478|0.97478	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1334;1334;1299|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	N|E	1334;1334;1334;1334;1334;1292;1483|467	ENSP00000439537:D1334N;ENSP00000362006:D1334N;ENSP00000354573:D1334N;ENSP00000313438:D1334N;ENSP00000444364:D1334N;ENSP00000435070:D1292N;ENSP00000437059:D1483N|.	ENSP00000313438:D1334N|.	D|G	+|+	1|2	0|0	MACF1|MACF1	39557962|39557962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.007000|8.007000	0.88571|0.88571	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GAT|GGA		0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		33	273	0	0	0	1	0	33	273					A	39785375	G	A	39785375	3	1	79	1	0	0	0	0	1	0	0	0	9183	1174	41	2	4118	2	MACF1	1	39785375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444984	39785375	209465246	472	10789											
MACF1	23499	broad.mit.edu	37	chr1	39797612	39797612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaacaggacacagactTacagtggaagaggctgtaag	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000372915.3	+	36	5454	c.5367T>C	c.(5365-5367)ctT>ctC	p.L1789L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1789					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTTACAGTGGAAG	0.478																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(5350-5352)ctT>ctC		microtubule-actin crosslinking factor 1							103	102	103					1																	39797612		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797612T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5367T>C	1.37:g.39797612T>C						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000372915.3_Silent_p.L1789L|MACF1_ENST00000361689.2_Intron	p.L1784L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	6129	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1789					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.5352T>C																																																																																					0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	313	0	0	0	1	0	21	313					C	39797612	T	C	39797612	2	2	79	1	0	0	0	0	0	0	0	1	9183	1741	61	4		4	MACF1	1	39797612	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12237	39797612	209453009	473	10790											
MACF1	23499	broad.mit.edu	37	chr1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaccaaagaaagaacaTcaacctctaagaaacacttc	4	11	2	3	rs377755332	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000372915.3	+	36	6582	c.6495T>A	c.(6493-6495)caT>caA	p.H2165Q	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2165					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGAACATCAACCTCTAA	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6478-6480)caT>caA		microtubule-actin crosslinking factor 1							61	62	61					1																	39798740		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798740T>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6495T>A	1.37:g.39798740T>A	ENSP00000362006:p.His2165Gln					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000372915.3_Missense_Mutation_p.H2165Q|MACF1_ENST00000361689.2_Intron	p.H2160Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7257	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2165					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6480T>A		.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366911	0.01225	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.27	5.92	2.84	0.33178	.	1.286490	0.05217	N	0.507867	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.26395	-1.0104	10	0.20519	T	0.43	.	9.7105	0.40243	0.0:0.4105:0.43:0.1595	.	2165	Q9UPN3	MACF1_HUMAN	Q	2165;600	ENSP00000362006:H2165Q;ENSP00000289893:H600Q	ENSP00000289893:H600Q	H	+	3	2	MACF1	39571327	0.000000	0.05858	0.038000	0.18304	0.040000	0.13550	0.299000	0.19138	0.308000	0.22923	0.383000	0.25322	CAT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	272	0	0	0	1	0	20	272					A	39798740	T	A	39798740	3	1	79	1	0	0	0	0	1	0	0	0	9183	1432	50	5	6571	5	MACF1	1	39798740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1128	39798740	209451881	474	10791											
MACF1	23499	broad.mit.edu	37	chr1	39799004	39799004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcaagaagcacagaaCatcgcaggtggtagtatgat	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799004C>T	ENST00000372915.3	+	36	6846	c.6759C>T	c.(6757-6759)aaC>aaT	p.N2253N	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000564288.1_Silent_p.N2248N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2253					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGCACAGAACATCGCAGGTG	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6742-6744)aaC>aaT		microtubule-actin crosslinking factor 1							102	100	101					1																	39799004		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799004C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6759C>T	1.37:g.39799004C>T						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000372915.3_Silent_p.N2253N|MACF1_ENST00000361689.2_Intron	p.N2248N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7521	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2253					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.6744C>T																																																																																					0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	434	0	0	0	1	0	17	434					T	39799004	C	T	39799004	2	4	79	1	0	0	0	0	0	0	0	1	9183	477	17	2		2	MACF1	1	39799004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	39799004	209451617	475	10792											
MACF1	23499	broad.mit.edu	37	chr1	39799706	39799706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctttaacagttgtgcaGtccattgacagaggtctttt	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000372915.3	+	36	7548	c.7461G>A	c.(7459-7461)caG>caA	p.Q2487Q	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000564288.1_Silent_p.Q2482Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2487					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTGTGCAGTCCATTGACA	0.413																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7444-7446)caG>caA		microtubule-actin crosslinking factor 1							148	154	152					1																	39799706		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799706G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7461G>A	1.37:g.39799706G>A						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000372915.3_Silent_p.Q2487Q|MACF1_ENST00000361689.2_Intron	p.Q2482Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8223	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2487					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.7446G>A																																																																																					0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		140	569	0	0	0	1	0	140	569					A	39799706	G	A	39799706	2	1	79	1	0	0	0	0	0	0	0	1	9183	1020	36	2		2	MACF1	1	39799706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	39799706	209450915	476	10793											
MACF1	23499	broad.mit.edu	37	chr1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaagtaaacaatttaagtCtctgcttgactttaaaacca	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L1519I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATTTAAGTCTCTGCTTGAC	0.403																																						ENST00000564288.1																			1	Substitution - Missense(1)	p.L1519I(1)	large_intestine(1)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(9235-9237)Ctc>Atc		microtubule-actin crosslinking factor 1							43	49	47					1																	39801495		2202	4300	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801495C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9250C>A	1.37:g.39801495C>A	ENSP00000362006:p.Leu3084Ile					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000372915.3_Missense_Mutation_p.L3084I|MACF1_ENST00000361689.2_Intron	p.L3079I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	10012	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3084					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9235C>A		.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	MACF1	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	270	1	0	7.92952e-12	1	8.47903e-12	26	270					A	39801495	C	A	39801495	3	1	79	1	0	0	0	0	1	0	0	0	9183	913	32	3	9326	3	MACF1	1	39801495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	39801495	209449126	477	10794											
MACF1	23499	broad.mit.edu	37	chr1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagcctctcctatagcCtggctgagcgatcttctctg	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000372915.3	+	47	12385	c.12298C>A	c.(12298-12300)Ctg>Atg	p.L4100M	MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4100					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTATAGCCTGGCTGAGCG	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12283-12285)Ctg>Atg		microtubule-actin crosslinking factor 1							56	56	56					1																	39826503		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826503C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12298C>A	1.37:g.39826503C>A	ENSP00000362006:p.Leu4100Met					MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4100M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M	p.L4095M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		48	13060	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4100					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12283C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.593516|1.593516	0.28357|0.28357	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.8|5.8	1.02|1.02	0.19986|0.19986	.|.	0.136619|.	0.30940|.	N|.	0.008565|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.41597|.	0.756;0.109;0.097;0.041|.	P;B;B;B|.	0.51016|.	0.656;0.061;0.055;0.059|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.45353|.	T|.	0.12|.	.|.	4.1057|4.1057	0.10035|0.10035	0.2912:0.4006:0.0:0.3082|0.2912:0.4006:0.0:0.3082	.|.	4100;2033;2033;1998|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2033;4100;2033;2033;2033;2535|1166	ENSP00000439537:L2033M;ENSP00000362006:L4100M;ENSP00000354573:L2033M;ENSP00000313438:L2033M;ENSP00000444364:L2033M;ENSP00000289893:L2535M|.	ENSP00000289893:L2535M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599090|39599090	0.990000|0.990000	0.36364|0.36364	0.800000|0.800000	0.32199|0.32199	0.942000|0.942000	0.58702|0.58702	1.718000|1.718000	0.38001|0.38001	0.211000|0.211000	0.20683|0.20683	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	200	1	0	9.39395e-14	1	1.01619e-13	27	200					A	39826503	C	A	39826503	3	1	79	1	0	0	0	0	1	0	0	0	9183	680	24	3	12418	3	MACF1	1	39826503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25008	39826503	209424118	478	10795											
MACF1	23499	broad.mit.edu	37	chr1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggaaagcctggagagcCtgttgcagtctattggggaa	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000372915.3	+	47	12457	c.12370C>A	c.(12370-12372)Ctg>Atg	p.L4124M	MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4124					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGAGAGCCTGTTGCAGTC	0.507																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12355-12357)Ctg>Atg		microtubule-actin crosslinking factor 1							73	71	72					1																	39826575		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826575C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12370C>A	1.37:g.39826575C>A	ENSP00000362006:p.Leu4124Met					MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4124M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M	p.L4119M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		48	13132	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4124	E -> D (in Ref. 1; BAA83821).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12355C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.356181|1.356181	0.24598|0.24598	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.62|5.62	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.46145|.	D|.	0.000302|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.76494|.	0.998;0.542;0.999;0.678|.	D;B;D;P|.	0.85130|.	0.99;0.396;0.997;0.674|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|5	0.27785|.	T|.	0.31|.	.|.	7.468|7.468	0.27332|0.27332	0.0:0.5743:0.0:0.4257|0.0:0.5743:0.0:0.4257	.|.	4124;2057;2057;2022|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2057;4124;2057;2057;2057;2559|1190	ENSP00000439537:L2057M;ENSP00000362006:L4124M;ENSP00000354573:L2057M;ENSP00000313438:L2057M;ENSP00000444364:L2057M;ENSP00000289893:L2559M|.	ENSP00000289893:L2559M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599162|39599162	0.015000|0.015000	0.18098|0.18098	0.987000|0.987000	0.45799|0.45799	0.246000|0.246000	0.25737|0.25737	0.167000|0.167000	0.16602|0.16602	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		25	203	1	0	7.88262e-20	1	8.81088e-20	25	203					A	39826575	C	A	39826575	3	1	79	1	0	0	0	0	1	0	0	0	9183	680	24	3	12490	3	MACF1	1	39826575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	39826575	209424046	479	10796											
MACF1	23499	broad.mit.edu	37	chr1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccaaccagaggctgTaaagcagcaattggaagaga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000372915.3	+	56	14258	c.14171T>C	c.(14170-14172)gTa>gCa	p.V4724A	MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4724					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGCTGTAAAGCAGCAA	0.517																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14155-14157)gTa>gCa		microtubule-actin crosslinking factor 1							85	81	83					1																	39851413		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851413T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14171T>C	1.37:g.39851413T>C	ENSP00000362006:p.Val4724Ala					MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000372915.3_Missense_Mutation_p.V4724A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A	p.V4719A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		57	14933	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4724					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14156T>C		.	.	.	.	.	.	.	.	.	.	T	27.6	4.846298	0.91277	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	T	0.58538	0.2129	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.65815	0.995;0.958;0.958	D;P;P	0.71184	0.972;0.747;0.761	T	0.60601	-0.7231	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4724;2657;2601	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	A	2657;4724;2657;2657;2636;3159	ENSP00000439537:V2657A;ENSP00000362006:V4724A;ENSP00000354573:V2657A;ENSP00000313438:V2657A;ENSP00000444364:V2636A;ENSP00000289893:V3159A	ENSP00000289893:V3159A	V	+	2	0	MACF1	39624000	1.000000	0.71417	0.968000	0.41197	0.909000	0.53808	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTA		0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		56	219	0	0	0	1	0	56	219					C	39851413	T	C	39851413	3	2	79	1	0	0	0	0	1	0	0	0	9183	1638	57	4	14327	4	MACF1	1	39851413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24838	39851413	209399208	480	10797											
MACF1	23499	broad.mit.edu	37	chr1	39851459	39851459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaattcgatctgacttggaGcagttagaccacgaggttaa	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000372915.3	+	56	14304	c.14217G>A	c.(14215-14217)gaG>gaA	p.E4739E	MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000564288.1_Silent_p.E4734E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000361689.2_Silent_p.E2672E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4739					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACTTGGAGCAGTTAGACC	0.502																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14200-14202)gaG>gaA		microtubule-actin crosslinking factor 1							113	103	106					1																	39851459		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851459G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14217G>A	1.37:g.39851459G>A						MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000372915.3_Silent_p.E4739E|MACF1_ENST00000361689.2_Silent_p.E2672E	p.E4734E			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		57	14979	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4739					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.14202G>A		.	.	.	.	.	.	.	.	.	.	G	6.865	0.528900	0.13127	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.123	0.13527	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	4	.	.	.	.	10.0573	0.42252	0.4608:0.0:0.5392:0.0	.	.	.	.	T	1785	.	.	A	+	1	0	MACF1	39624046	1.000000	0.71417	0.633000	0.29310	0.841000	0.47740	1.693000	0.37742	-0.262000	0.09392	-0.136000	0.14681	GCA		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	299	0	0	0	1	0	15	299					A	39851459	G	A	39851459	2	1	79	1	0	0	0	0	0	0	0	1	9183	962	34	2		2	MACF1	1	39851459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	39851459	209399162	481	10798											
MACF1	23499	broad.mit.edu	37	chr1	39893757	39893757	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaaagatagactcatTgcaggcccgatacagtgaaa	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39893757T>G	ENST00000372915.3	+	61	16578				MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000564288.1_Missense_Mutation_p.L5534W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000361689.2_Missense_Mutation_p.L3472W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGACTCATTGCAGGCCCGA	0.522																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16600-16602)tTg>tGg		microtubule-actin crosslinking factor 1							116	105	109					1																	39893757		2203	4300	6503	SO:0001627	intron_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39893757T>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+471T>G	1.37:g.39893757T>G						MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.L3472W	p.L5534W			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		63	17378	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5539					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16601T>G		.	.	.	.	.	.	.	.	.	.	T	21.7	4.186676	0.78789	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.84	5.84	0.93424	.	0.000000	0.43747	D	0.000534	T	0.76615	0.4012	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.79004	-0.1980	10	0.87932	D	0	.	16.2123	0.82170	0.0:0.0:0.0:1.0	.	3472;3416	F8W8Q1;Q9UPN3-3	.;.	W	3472;3472;3472;3974;288	ENSP00000439537:L3472W;ENSP00000354573:L3472W;ENSP00000313438:L3472W;ENSP00000289893:L3974W;ENSP00000433104:L288W	ENSP00000289893:L3974W	L	+	2	0	MACF1	39666344	0.994000	0.37717	0.992000	0.48379	0.996000	0.88848	2.250000	0.43178	2.231000	0.72958	0.455000	0.32223	TTG		0.522	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	235	0	0	0	1	0	15	235					G	39893757	T	G	39893757	1	3	79	0	1	0	0	0	0	0	0	0	9183	1821	63	4		4	MACF1	1	39893757	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42298	39893757	209356864	482	10799											
MACF1	23499	broad.mit.edu	37	chr1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacaaactagtcagtgacaCtattggacaaagggtggatg	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000372915.3	+	64	17060	c.16973C>A	c.(16972-16974)aCt>aAt	p.T5658N	MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5658					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGTGACACTATTGGACAA	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(17284-17286)aCt>aAt		microtubule-actin crosslinking factor 1							165	144	151					1																	39896528		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39896528C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16973C>A	1.37:g.39896528C>A	ENSP00000362006:p.Thr5658Asn					MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000372915.3_Missense_Mutation_p.T5658N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N	p.T5762N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		66	18062	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5767					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.17285C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265183|4.265183	0.80358|0.80358	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.32;1.31;1.32;1.31;1.32;1.32	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.088123	.|0.49305	.|D	.|0.000148	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53151	.|0.942;0.958;0.928	.|P;P;P	.|0.54346	.|0.561;0.749;0.614	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.56958	.|D	.|0.05	.|.	19.9093|19.9093	0.97021|0.97021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5658;3700;3644	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Q|N	2703|3700;5658;3700;3700;3570;4202	.|ENSP00000439537:T3700N;ENSP00000362006:T5658N;ENSP00000354573:T3700N;ENSP00000313438:T3700N;ENSP00000444364:T3570N;ENSP00000289893:T4202N	.|ENSP00000289893:T4202N	H|T	+|+	3|2	2|0	MACF1|MACF1	39669115|39669115	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	3.956000|3.956000	0.56722|0.56722	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	289	1	0	1.00905e-13	1	1.09121e-13	20	289					A	39896528	C	A	39896528	3	1	79	1	0	0	0	0	1	0	0	0	9183	565	20	3	17492	3	MACF1	1	39896528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	39896528	209354093	483	10800											
MACF1	23499	broad.mit.edu	37	chr1	39904950	39904950	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttttaacctcctcagaaatCcaggataaattggatcaaat	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000372915.3	+	71	18009	c.17922C>A	c.(17920-17922)atC>atA	p.I5974I	MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000564288.1_Silent_p.I6075I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000361689.2_Silent_p.I4016I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5974					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCAGAAATCCAGGATAAAT	0.373																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18223-18225)atC>atA		microtubule-actin crosslinking factor 1							39	41	40					1																	39904950		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39904950C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17922C>A	1.37:g.39904950C>A						MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000372915.3_Silent_p.I5974I|MACF1_ENST00000361689.2_Silent_p.I4016I	p.I6075I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		72	19002	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6083					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.18225C>A		.	.	.	.	.	.	.	.	.	.	C	8.826	0.938741	0.18206	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.86	2.75	0.32379	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	9.3164	0.37937	0.3003:0.633:0.0:0.0668	.	.	.	.	T	3020	.	.	P	+	1	0	MACF1	39677537	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.510000	0.22723	0.256000	0.21614	0.650000	0.86243	CCA		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	123	1	0	1.61879e-10	1	1.71755e-10	11	123					A	39904950	C	A	39904950	2	1	79	1	0	0	0	0	0	0	0	1	9183	845	30	3		3	MACF1	1	39904950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8422	39904950	209345671	484	10801											
MACF1	23499	broad.mit.edu	37	chr1	39910396	39910396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactacttgacaagggcagActcatgcttctaagccgtga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000372915.3	+	79	19278	c.19191A>G	c.(19189-19191)agA>agG	p.R6397R	MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000361689.2_Silent_p.R4439R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6397					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGGCAGACTCATGCTTC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19492-19494)agA>agG		microtubule-actin crosslinking factor 1							101	93	95					1																	39910396		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39910396A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19191A>G	1.37:g.39910396A>G						MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000372915.3_Silent_p.R6397R|MACF1_ENST00000361689.2_Silent_p.R4439R	p.R6498R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		80	20271	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6508					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.19494A>G		.	.	.	.	.	.	.	.	.	.	A	10.48	1.362540	0.24684	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.01	0.19927	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	9.8307	0.40939	0.3494:0.0:0.6506:0.0	.	.	.	.	A	3443	.	.	T	+	1	0	MACF1	39682983	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	0.996000	0.29719	-0.059000	0.13154	-0.248000	0.11899	ACT		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		29	219	0	0	0	1	0	29	219					G	39910396	A	G	39910396	2	3	79	1	0	0	0	0	0	0	0	1	9183	272	10	4		4	MACF1	1	39910396	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5446	39910396	209340225	485	10802											
MACF1	23499	broad.mit.edu	37	chr1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaggaaaaagtatatgCgttggatgaatcacaaaaag	11	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000372915.3	+	91	21196	c.21109C>T	c.(21109-21111)Cgt>Tgt	p.R7037C	MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7037					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTATATGCGTTGGATGAA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21412-21414)Cgt>Tgt		microtubule-actin crosslinking factor 1							151	154	153					1																	39926355		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39926355C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21109C>T	1.37:g.39926355C>T	ENSP00000362006:p.Arg7037Cys					MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000372915.3_Missense_Mutation_p.R7037C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C	p.R7138C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		92	22189	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7037			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21412C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354817|5.354817	0.95854|0.95854	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.31040|0.31040	0.0784|0.0784	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.00173|0.00173	-1.1957|-1.1957	5|9	.|.	.|.	.|.	.|.	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|7037;5079	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	V|C	4082;60|5079;7037;5079;5079;4949;5581	.|ENSP00000439537:R5079C;ENSP00000362006:R7037C;ENSP00000354573:R5079C;ENSP00000313438:R5079C;ENSP00000444364:R4949C;ENSP00000289893:R5581C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39698942|39698942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.761000|2.761000	0.94854|0.94854	0.585000|0.585000	0.79938|0.79938	GCG|CGT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		111	439	0	0	0	1	0	111	439					T	39926355	C	T	39926355	3	4	79	1	0	0	0	0	1	0	0	0	9183	768	27	1	21736	1	MACF1	1	39926355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	39926355	209324266	486	10803											
MACF1	23499	broad.mit.edu	37	chr1	39945590	39945590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accatcttcccgggcagcttCccctactcgttccagctcca	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39945590C>A	ENST00000372915.3	+	95	21776	c.21689C>A	c.(21688-21690)tCc>tAc	p.S7230Y	MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000564288.1_Missense_Mutation_p.S7360Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7230	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGGCAGCTTCCCCTACTCGT	0.552																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22078-22080)tCc>tAc		microtubule-actin crosslinking factor 1							117	92	101					1																	39945590		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39945590C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21689C>A	1.37:g.39945590C>A	ENSP00000362006:p.Ser7230Tyr					MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000372915.3_Missense_Mutation_p.S7230Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y	p.S7360Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		98	22856	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7230			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22079C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.272131|5.272131|5.272131	0.95429|0.95429|0.95429	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|.|T;T;T;T;T;T	.|.|0.70164	.|.|-0.42;-0.31;-0.42;-0.46;-0.25;0.75	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000014	T|T|T	0.81029|0.81029|0.81029	0.4738|0.4738|0.4738	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D	.|.|0.76494	.|.|0.998;0.996;0.999;0.998;0.999;0.998	.|.|D;D;D;D;D;D	.|.|0.87578	.|.|0.997;0.967;0.998;0.992;0.996;0.997	T|T|T	0.78650|0.78650|0.78650	-0.2121|-0.2121|-0.2121	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	20.0628|20.0628|20.0628	0.97684|0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|7230;5272;4275;63;5780;172	.|.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|T|Y	4275;259|385;173|5272;7230;5272;5272;5142;5780;149;134	.|.|ENSP00000439537:S5272Y;ENSP00000362006:S7230Y;ENSP00000354573:S5272Y;ENSP00000313438:S5272Y;ENSP00000444364:S5142Y;ENSP00000289893:S5780Y	.|.|.	F|P|S	+|+|+	3|1|2	2|0|0	MACF1|MACF1|MACF1	39718177|39718177|39718177	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.425000|7.425000|7.425000	0.80255|0.80255|0.80255	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CCC|TCC		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	293	1	0	2.7689e-08	1	2.89045e-08	7	293					A	39945590	C	A	39945590	3	1	79	1	0	0	0	0	1	0	0	0	9183	855	30	3	22354	3	MACF1	1	39945590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19235	39945590	209305031	487	10804											
MACF1	23499	broad.mit.edu	37	chr1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattttttttaaggttatcCcatcatcaggtagcaagttg	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000372915.3	+	96	21874	c.21787C>T	c.(21787-21789)Cca>Tca	p.P7263S	MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGGTTATCCCATCATCAGG	0.388																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22288-22290)Cca>Tca		microtubule-actin crosslinking factor 1							87	93	91					1																	39950279		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950279C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21787C>T	1.37:g.39950279C>T	ENSP00000362006:p.Pro7263Ser					MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000372915.3_Missense_Mutation_p.P7263S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S	p.P7430S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		100	23065	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7263					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22288C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898360|0.898360	0.17686|0.17686	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.67171	.|-0.22;-0.11;-0.22;-0.25;-0.07;0.95	6.03|6.03	0.848|0.848	0.18966|0.18966	.|.	0.326671|0.326671	0.26915|0.26915	N|N	0.021858|0.021858	T|T	0.57315|0.57315	0.2045|0.2045	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.20261	.|0.005;0.0;0.0;0.043;0.043;0.002	.|B;B;B;B;B;B	.|0.17433	.|0.009;0.001;0.001;0.018;0.014;0.011	T|T	0.44513|0.44513	-0.9323|-0.9323	6|9	.|.	.|.	.|.	.|.	8.3126|8.3126	0.32080|0.32080	0.0:0.6324:0.1095:0.2581|0.0:0.6324:0.1095:0.2581	.|.	.|7263;5305;4308;133;5813;242	.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|S	4308;329|5305;7263;5305;5305;5175;5813;219	.|ENSP00000439537:P5305S;ENSP00000362006:P7263S;ENSP00000354573:P5305S;ENSP00000313438:P5305S;ENSP00000444364:P5175S;ENSP00000289893:P5813S	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39722866|39722866	0.708000|0.708000	0.27876|0.27876	0.960000|0.960000	0.40013|0.40013	0.750000|0.750000	0.42670|0.42670	1.005000|1.005000	0.29834|0.29834	-0.058000|-0.058000	0.13177|0.13177	-0.797000|-0.797000	0.03246|0.03246	CCC|CCA		0.388	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		42	465	0	0	0	1	0	42	465					T	39950279	C	T	39950279	3	4	79	1	0	0	0	0	1	0	0	0	9183	623	22	2	22456	2	MACF1	1	39950279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4689	39950279	209300342	488	10805											
HPCAL4	51440	broad.mit.edu	37	chr1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaggttgaggatgcCgctggggcagtccttcagga	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(121-123)Ggc>Agc		hippocalcin like 4							63	52	56					1																	40150155		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40150155C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.121G>A	1.37:g.40150155C>T	ENSP00000361935:p.Gly41Ser						p.G41S	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	512	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	41			EF-hand 1.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.121G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704217	0.96812	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.79247	-1.25	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.98048	4.135	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.78314	0.195;0.991	D	0.95576	0.8642	10	0.87932	D	0	.	17.8549	0.88760	0.0:1.0:0.0:0.0	.	41;41	B4DGW9;Q9UM19	.;HPCL4_HUMAN	S	41;33	ENSP00000361935:G41S	ENSP00000361935:G41S	G	-	1	0	HPCAL4	39922742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.378000	0.81104	0.561000	0.74099	GGC		0.622	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		13	121	0	0	0	1	0	13	121					T	40150155	C	T	40150155	3	4	79	1	0	0	0	0	1	0	0	0	7361	652	23	1	466	1	HPCAL4	1	40150155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199876	40150155	209100466	489	10806											
BMP8B	656	broad.mit.edu	37	chr1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgacgtagagctcgtgcCgacggcagacctgccggccg	15	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372827.3	-	5	1283	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	PPIE_ENST00000356511.2_3'UTR|PPIE_ENST00000372830.1_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	303					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(907-909)cGg>cAg		bone morphogenetic protein 8b							74	79	77					1																	40229424		2203	4299	6502	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40229424C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.908G>A	1.37:g.40229424C>T	ENSP00000361915:p.Arg303Gln					PPIE_ENST00000356511.2_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000372830.1_3'UTR	p.R303Q	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	1283	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	303					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.908G>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611999	0.87258	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	D;D	0.90069	-2.61;-2.45	4.02	4.02	0.46733	Transforming growth factor-beta, C-terminal (3);	0.235955	0.40908	U	0.000982	D	0.96194	0.8759	H	0.96943	3.91	0.39632	D	0.970188	D;D	0.89917	1.0;1.0	D;D	0.72338	0.943;0.977	D	0.98128	1.0429	10	0.72032	D	0.01	.	15.4955	0.75646	0.0:1.0:0.0:0.0	.	328;303	E7EMY8;P34820	.;BMP8B_HUMAN	Q	303;328	ENSP00000361915:R303Q;ENSP00000380518:R328Q	ENSP00000361915:R303Q	R	-	2	0	BMP8B	40002011	0.961000	0.32948	0.989000	0.46669	0.997000	0.91878	3.414000	0.52693	2.249000	0.74217	0.650000	0.86243	CGG		0.557	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		52	499	0	0	0	1	0	52	499					T	40229424	C	T	40229424	3	4	79	1	0	0	0	0	1	0	0	0	1469	652	23	1	312	1	BMP8B	1	40229424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79269	40229424	209021197	490	10807											
TRIT1	54802	broad.mit.edu	37	chr1	40309819	40309819	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcgatcacagaggtcacaCaggtgataacttctcttgtt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000537223.1_Silent_p.L92L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	396					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTCACACAGGTGATAAC	0.468																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(1186-1188)ctG>ctT		tRNA isopentenyltransferase 1							158	141	147					1																	40309819		2203	4300	6503	SO:0001819	synonymous_variant	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40309819C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1188G>T	1.37:g.40309819C>A						TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000441669.2_Silent_p.L314L	p.L396L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		10	1202	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	396					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	c.1188G>T	CCDS30681.1																																																																																				0.468	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		35	309	1	0	6.29468e-14	1	6.81746e-14	35	309					A	40309819	C	A	40309819	2	1	79	1	0	0	0	0	0	0	0	1	16613	465	17	3		3	TRIT1	1	40309819	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80395	40309819	208940802	491	10808											
RLF	6018	broad.mit.edu	37	chr1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acataaagaaatcagtgaaaCttgaggagtctgcaacaggt	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	840					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAGTGAAACTTGAGGAGTC	0.348																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(2518-2520)Ctt>Att		rearranged L-myc fusion							41	41	41					1																	40702892		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702892C>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2518C>A	1.37:g.40702892C>A	ENSP00000361857:p.Leu840Ile						p.L840I	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2545	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	840					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.2518C>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.518082	0.04171	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15372	2.43	5.65	3.72	0.42706	.	0.431666	0.27586	N	0.018704	T	0.12178	0.0296	L	0.38838	1.175	0.28583	N	0.910047	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.22706	T	0.39	-3.5999	8.1302	0.31022	0.0:0.733:0.1318:0.1352	.	533;840	F5H2M5;Q13129	.;RLF_HUMAN	I	840;533	ENSP00000361857:L840I	ENSP00000361857:L840I	L	+	1	0	RLF	40475479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.586000	0.49944	0.655000	0.94253	CTT		0.348	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		41	174	1	0	7.53189e-24	1	8.58305e-24	41	174					A	40702892	C	A	40702892	3	1	79	1	0	0	0	0	1	0	0	0	13439	565	20	3	2548	3	RLF	1	40702892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393073	40702892	208547729	492	10809											
TMCO2	127391	broad.mit.edu	37	chr1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcacactctacaaactttAcaagaagggctcacatattt	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	92						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(274-276)tAc>tGc		transmembrane and coiled-coil domains 2							77	80	79					1																	40716992		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40716992A>G	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.275A>G	1.37:g.40716992A>G	ENSP00000361852:p.Tyr92Cys					TMCO2_ENST00000468258.1_3'UTR	p.Y92C	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		2	368	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	92						Missense_Mutation	SNP	ENST00000372766.3	37	c.275A>G	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535742	0.64972	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000124	T	0.60856	0.2301	L	0.32530	0.975	0.36795	D	0.885068	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	9	0.87932	D	0	-9.6777	11.454	0.50169	1.0:0.0:0.0:0.0	.	92	Q7Z6W1	TMCO2_HUMAN	C	92	.	ENSP00000361852:Y92C	Y	+	2	0	TMCO2	40489579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.007000	0.57093	2.202000	0.70862	0.533000	0.62120	TAC		0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		73	284	0	0	0	1	0	73	284					G	40716992	A	G	40716992	3	3	79	1	0	0	0	0	1	0	0	0	16048	391	14	4	281	4	TMCO2	1	40716992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14100	40716992	208533629	493	10810											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtattttgttgcctgtgtCttcacttctactttacatta	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	182					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(544-546)tCt>tAt		zinc metallopeptidase STE24							193	201	198					1																	40735717		2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40735717C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.545C>A	1.37:g.40735717C>A	ENSP00000361845:p.Ser182Tyr						p.S182Y	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		5	710	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	182					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.545C>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230167	0.58777	.	.	ENSG00000084073	ENST00000372759	D	0.82619	-1.63	5.66	4.69	0.59074	.	0.151556	0.64402	D	0.000016	T	0.77818	0.4187	L	0.29908	0.895	0.49051	D	0.999745	B	0.29886	0.26	B	0.35859	0.212	T	0.76642	-0.2884	10	0.45353	T	0.12	-9.9802	16.0844	0.81031	0.0:0.8661:0.1339:0.0	.	182	O75844	FACE1_HUMAN	Y	182	ENSP00000361845:S182Y	ENSP00000361845:S182Y	S	+	2	0	ZMPSTE24	40508304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.654000	0.90174	0.650000	0.86243	TCT		0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			209	714	1	0	9.93019e-89	1	1.27394e-88	209	714					A	40735717	C	A	40735717	3	1	79	1	0	0	0	0	1	0	0	0	17751	913	32	3	563	3	ZMPSTE24	1	40735717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18725	40735717	208514904	494	10811											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactctactagaagagtaCtctgtactaaacaaagacat	6	9	2	3	rs370823306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	287					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(859-861)taC>taA		zinc metallopeptidase STE24							96	97	97					1																	40747106		2203	4300	6503	SO:0001587	stop_gained	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40747106C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.861C>A	1.37:g.40747106C>A	ENSP00000361845:p.Tyr287*						p.Y287*	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		7	1026	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	287					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Nonsense_Mutation	SNP	ENST00000372759.3	37	c.861C>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	37	6.521541	0.97633	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.46	3.47	0.39725	.	0.054788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4102	6.7743	0.23611	0.0:0.5632:0.0:0.4368	.	.	.	.	X	287	.	ENSP00000361845:Y287X	Y	+	3	2	ZMPSTE24	40519693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	0.551000	0.29008	0.655000	0.94253	TAC		0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			53	383	1	0	6.27289e-28	1	7.28045e-28	53	383					A	40747106	C	A	40747106	4	1	79	1	0	0	0	0	0	1	0	0	17751	576	20	3	887	3	ZMPSTE24	1	40747106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11389	40747106	208503515	495	10812											
SMAP2	64744	broad.mit.edu	37	chr1	40874336	40874336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtcacagtgcatgcaagaGatgggaaatggaaaggcaaa	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	83					regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCATGCAAGAGATGGGAAATG	0.428																																						ENST00000539317.1																			0				central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(7-9)gaG>gaA		small ArfGAP2							172	143	153					1																	40874336		2203	4300	6503	SO:0001819	synonymous_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40874336G>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.9G>A	1.37:g.40874336G>A							p.E3E	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		3	202	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	83					B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	c.9G>A	CCDS55593.1																																																																																				0.428	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		18	330	0	0	0	1	0	18	330					A	40874336	G	A	40874336	2	1	79	1	0	0	0	0	0	0	0	1	14817	933	33	2		2	SMAP2	1	40874336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127230	40874336	208376285	496	10813											
ZNF642	339559	broad.mit.edu	37	chr1	40960960	40960960	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttacataagaacaaaaacCtatgaatgtaatatatgtga	6	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40960960C>A	ENST00000372706.1	+	6	1816	c.810C>A	c.(808-810)acC>acA	p.T270T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.T270T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAACAAAAACCTATGAATGTA	0.308																																						ENST00000372706.1																			0											c.(808-810)acC>acA		ZFP69 zinc finger protein							42	44	43					1																	40960960		2202	4299	6501	SO:0001819	synonymous_variant	339559							g.chr1:40960960C>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.810C>A	1.37:g.40960960C>A						ZFP69_ENST00000372705.3_Silent_p.T270T|RP11-656D10.3_ENST00000450713.1_RNA	p.T270T							6	1816	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.810C>A	CCDS30686.1																																																																																				0.308	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		29	174	1	0	1.17739e-12	1	1.26592e-12	29	174					A	40960960	C	A	40960960	2	1	79	1	0	0	0	0	0	0	0	1	18111	668	24	3		3	ZNF642	1	40960960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86624	40960960	208289661	497	10814											
ZNF642	339559	broad.mit.edu	37	chr1	40961175	40961175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagacatcgctcatcacTtaatcagcatcatagaactc	4	13	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961175T>G	ENST00000372706.1	+	6	2031	c.1025T>G	c.(1024-1026)cTt>cGt	p.L342R	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.L342R			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CGCTCATCACTTAATCAGCAT	0.433																																						ENST00000372706.1																			0											c.(1024-1026)cTt>cGt		ZFP69 zinc finger protein							95	90	92					1																	40961175		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40961175T>G	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1025T>G	1.37:g.40961175T>G	ENSP00000361791:p.Leu342Arg					ZFP69_ENST00000372705.3_Missense_Mutation_p.L342R|RP11-656D10.3_ENST00000450713.1_RNA	p.L342R							6	2031	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1025T>G	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800702	0.70567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.53640	0.61;0.61	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001443	T	0.70789	0.3264	M	0.86805	2.84	0.48571	D	0.999673	D	0.89917	1.0	D	0.79784	0.993	T	0.76285	-0.3015	10	0.72032	D	0.01	-12.2071	12.6904	0.56972	0.0:0.0:0.0:1.0	.	342	Q49AA0	ZN642_HUMAN	R	342	ENSP00000361791:L342R;ENSP00000361790:L342R	ENSP00000361790:L342R	L	+	2	0	ZNF642	40733762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	2.302000	0.77476	0.533000	0.62120	CTT		0.433	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		36	353	0	0	0	1	0	36	353					G	40961175	T	G	40961175	3	3	79	1	0	0	0	0	1	0	0	0	18111	1609	56	4	1043	4	ZNF642	1	40961175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	215	40961175	208289446	498	10815											
ZNF642	339559	broad.mit.edu	37	chr1	40961257	40961257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcagccagaacattagCttggttcaacatttgaggac	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961257C>T	ENST00000372706.1	+	6	2113	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.S369S			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGAACATTAGCTTGGTTCAAC	0.388																																						ENST00000372706.1																			0											c.(1105-1107)agC>agT		ZFP69 zinc finger protein							86	87	87					1																	40961257		2203	4300	6503	SO:0001819	synonymous_variant	339559							g.chr1:40961257C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1107C>T	1.37:g.40961257C>T						ZFP69_ENST00000372705.3_Silent_p.S369S|RP11-656D10.3_ENST00000450713.1_RNA	p.S369S							6	2113	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.1107C>T	CCDS30686.1																																																																																				0.388	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		35	379	0	0	0	1	0	35	379					T	40961257	C	T	40961257	2	4	79	1	0	0	0	0	0	0	0	1	18111	796	28	2		2	ZNF642	1	40961257	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	40961257	208289364	499	10816											
DEM1	64789	broad.mit.edu	37	chr1	40980896	40980896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaaatatatctttgatgCcatggtacaaggaaaagtga	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40980896C>T	ENST00000372703.1	+	2	1754	c.680C>T	c.(679-681)gCc>gTc	p.A227V	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.A227V|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.A227V			Q9H790	EXO5_HUMAN	exonuclease 5	227					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										ATCTTTGATGCCATGGTACAA	0.502																																						ENST00000372703.1																			0											c.(679-681)gCc>gTc		exonuclease 5							109	118	115					1																	40980896		2203	4300	6503	SO:0001583	missense	64789							g.chr1:40980896C>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.680C>T	1.37:g.40980896C>T	ENSP00000361788:p.Ala227Val					EXO5_ENST00000358527.2_Missense_Mutation_p.A227V|EXO5_ENST00000296380.4_Missense_Mutation_p.A227V	p.A227V							2	1754	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.680C>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380;ENST00000443729;ENST00000419161	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.31	4.38	0.52667	.	0.102457	0.39759	N	0.001280	T	0.39655	0.1086	M	0.62723	1.935	0.33180	D	0.549383	P	0.34892	0.474	P	0.45377	0.478	T	0.52990	-0.8501	10	0.30078	T	0.28	-10.3926	12.0283	0.53384	0.0:0.8265:0.1735:0.0	.	227	Q9H790	EXO5_HUMAN	V	227	ENSP00000351328:A227V;ENSP00000361788:A227V;ENSP00000296380:A227V;ENSP00000409715:A227V;ENSP00000392115:A227V	ENSP00000296380:A227V	A	+	2	0	DEM1	40753483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.835000	0.48175	1.589000	0.49982	0.650000	0.86243	GCC		0.502	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		124	475	0	0	0	1	0	124	475					T	40980896	C	T	40980896	3	4	79	1	0	0	0	0	1	0	0	0	4441	739	26	2	682	2	DEM1	1	40980896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19639	40980896	208269725	500	10817											
NFYC	4802	broad.mit.edu	37	chr1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagaccaccagctccaCgaccaccatccagcctgggc	8	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000308733.5	+	5	515	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	170					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(508-510)aCg>aTg		nuclear transcription factor Y, gamma							54	49	51					1																	41223914		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41223914C>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.509C>T	1.37:g.41223914C>T	ENSP00000312617:p.Thr170Met					NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000308733.5_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M	p.T170M			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		6	777	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	170					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162681	0.78226	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.0;1.0;1.0;1.0;1.0;0.94;1.0;1.0;1.0;1.0;1.5;1.0	5.6	5.6	0.85130	.	0.094419	0.64402	D	0.000001	T	0.56124	0.1964	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D;D;D;D;D	0.89917	0.99;0.997;1.0;0.983;1.0;0.99;0.99;1.0	P;P;D;B;D;P;P;D	0.79784	0.725;0.855;0.926;0.321;0.951;0.725;0.725;0.993	T	0.56426	-0.7981	10	0.62326	D	0.03	.	17.0961	0.86635	0.0:1.0:0.0:0.0	.	132;76;170;170;170;170;170;170	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	M	132;170;170;170;68;68;170;170;170;170;170;170;138;170	ENSP00000408315:T132M;ENSP00000404427:T170M;ENSP00000396620:T170M;ENSP00000408867:T170M;ENSP00000361738:T170M;ENSP00000361737:T170M;ENSP00000361754:T170M;ENSP00000361736:T170M;ENSP00000361734:T170M;ENSP00000414299:T170M;ENSP00000409219:T138M;ENSP00000312617:T170M	ENSP00000312617:T170M	T	+	2	0	NFYC	40996501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.653000	0.90120	0.561000	0.74099	ACG		0.617	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		9	194	0	0	0	1	0	9	194					T	41223914	C	T	41223914	3	4	79	1	0	0	0	0	1	0	0	0	10433	536	19	1	527	1	NFYC	1	41223914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243018	41223914	208026707	501	10818											
KCNQ4	9132	broad.mit.edu	37	chr1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgggctcagtggtctAcgcgcatagcaaggtgaggc	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	232					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TCAGTGGTCTACGCGCATAGC	0.711																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(694-696)tAc>tGc		potassium voltage-gated channel, KQT-like subfamily, member 4							13	13	13					1																	41284339		2196	4294	6490	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284339A>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.695A>G	1.37:g.41284339A>G	ENSP00000262916:p.Tyr232Cys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	777	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	232					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.695A>G	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370694	0.42003	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98493	-4.96;-4.96	5.04	2.66	0.31614	Ion transport (1);	0.229388	0.37623	N	0.002018	D	0.97430	0.9159	L	0.43646	1.37	0.58432	D	0.99999	B;D	0.69078	0.361;0.997	B;D	0.63113	0.275;0.911	D	0.95141	0.8264	10	0.33940	T	0.23	-8.7373	8.8674	0.35294	0.7028:0.0:0.0:0.2972	.	232;232	P56696-2;P56696	.;KCNQ4_HUMAN	C	232	ENSP00000262916:Y232C;ENSP00000423756:Y232C	ENSP00000262916:Y232C	Y	+	2	0	KCNQ4	41056926	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	5.921000	0.70028	0.359000	0.24239	0.528000	0.53228	TAC		0.711	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		16	63	0	0	0	1	0	16	63					G	41284339	A	G	41284339	3	3	79	1	0	0	0	0	1	0	0	0	8115	391	14	4	709	4	KCNQ4	1	41284339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60425	41284339	207966282	502	10819											
CTPS	1503	broad.mit.edu	37	chr1	41461643	41461643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtccccttgttgttagagGagcaaggggttgtagattat	14	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41461643G>A	ENST00000372621.4	+	8	1283	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CTPS1_ENST00000543104.1_Missense_Mutation_p.E266K|CTPS1_ENST00000372616.1_Missense_Mutation_p.E259K|CTPS1_ENST00000541520.1_Missense_Mutation_p.E28K	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						GTTGTTAGAGGAGCAAGGGGT	0.408																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(775-777)Gag>Aag		CTP synthase 1	L-Glutamine(DB00130)						110	113	112					1																	41461643		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461643G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.775G>A	1.37:g.41461643G>A	ENSP00000361704:p.Glu259Lys					CTPS1_ENST00000372616.1_Missense_Mutation_p.E259K|CTPS1_ENST00000543104.1_Missense_Mutation_p.E266K|CTPS1_ENST00000541520.1_Missense_Mutation_p.E28K	p.E259K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			8	1283	+			259						Missense_Mutation	SNP	ENST00000372621.4	37	c.775G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064417	0.20067	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.44083	0.94;0.93;0.94	5.81	4.9	0.64082	CTP synthase, N-terminal (1);	0.140808	0.64402	D	0.000008	T	0.31638	0.0803	L	0.31845	0.965	0.58432	D	0.99999	B;B	0.14805	0.001;0.011	B;B	0.21546	0.009;0.035	T	0.08534	-1.0717	10	0.11182	T	0.66	.	13.6622	0.62374	0.0746:0.0:0.9254:0.0	.	266;259	B7Z9C4;P17812	.;PYRG1_HUMAN	K	259;28;266;259	ENSP00000361704:E259K;ENSP00000442646:E28K;ENSP00000361699:E259K	ENSP00000361699:E259K	E	+	1	0	CTPS	41234230	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	5.178000	0.65037	1.466000	0.48025	-0.145000	0.13849	GAG		0.408	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		35	324	0	0	0	1	0	35	324					A	41461643	G	A	41461643	3	1	79	1	0	0	0	0	1	0	0	0	4033	1175	41	2	801	2	CTPS	1	41461643	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177304	41461643	207788978	503	10820											
CTPS	1503	broad.mit.edu	37	chr1	41466775	41466775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccacgaagcttggcagaaGctctgtagtgctcagtgagt	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41466775G>A	ENST00000372621.4	+	10	1588	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	CTPS1_ENST00000372616.1_Silent_p.K360K|CTPS1_ENST00000541520.1_Silent_p.K129K	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTTGGCAGAAGCTCTGTAGTG	0.478																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1078-1080)aaG>aaA		CTP synthase 1	L-Glutamine(DB00130)						72	66	68					1																	41466775		2203	4300	6503	SO:0001819	synonymous_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466775G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1080G>A	1.37:g.41466775G>A						CTPS1_ENST00000372616.1_Silent_p.K360K|CTPS1_ENST00000541520.1_Silent_p.K129K	p.K360K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1588	+			360			Glutamine amidotransferase type-1.			Silent	SNP	ENST00000372621.4	37	c.1080G>A	CCDS459.1																																																																																				0.478	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		44	148	0	0	0	1	0	44	148					A	41466775	G	A	41466775	2	1	79	1	0	0	0	0	0	0	0	1	4033	962	34	2		2	CTPS	1	41466775	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5132	41466775	207783846	504	10821											
CTPS	1503	broad.mit.edu	37	chr1	41474522	41474522	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgaagtttgttggccaAgatgttgaaggagagagaat	15	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41474522A>C	ENST00000372621.4	+	16	2014	c.1506A>C	c.(1504-1506)caA>caC	p.Q502H	CTPS1_ENST00000372616.1_Missense_Mutation_p.Q502H|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q271H	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TTGTTGGCCAAGATGTTGAAG	0.393																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1504-1506)caA>caC		CTP synthase 1	L-Glutamine(DB00130)						137	137	137					1																	41474522		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41474522A>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1506A>C	1.37:g.41474522A>C	ENSP00000361704:p.Gln502His					CTPS1_ENST00000372616.1_Missense_Mutation_p.Q502H|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q271H	p.Q502H	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			16	2014	+			502			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1506A>C	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823330	0.32237	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.89485	-2.52;-2.52;-2.52	5.08	-0.101	0.13618	Glutamine amidotransferase type 1 (2);	0.108809	0.64402	D	0.000004	T	0.74801	0.3764	N	0.12853	0.265	0.51482	D	0.999922	B	0.06786	0.001	B	0.08055	0.003	T	0.57219	-0.7849	10	0.27082	T	0.32	.	9.0008	0.36081	0.5741:0.0:0.4259:0.0	.	502	P17812	PYRG1_HUMAN	H	502;271;502	ENSP00000361704:Q502H;ENSP00000442646:Q271H;ENSP00000361699:Q502H	ENSP00000361699:Q502H	Q	+	3	2	CTPS	41247109	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	0.465000	0.22004	-0.209000	0.10156	-0.290000	0.09829	CAA		0.393	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		142	490	0	0	0	1	0	142	490					C	41474522	A	C	41474522	3	2	79	1	0	0	0	0	1	0	0	0	4033	69	3	4	1564	4	CTPS	1	41474522	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7747	41474522	207776099	505	10822											
SLFNL1	200172	broad.mit.edu	37	chr1	41482929	41482929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaccactcctggatggCgctggcagacagcgggccct	13	16	0	1	rs187351729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	ENST00000359345.1	-	3	3654	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T|SLFNL1_ENST00000372613.2_Intron	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	360							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCCTGGATGGCGCTGGCAGAC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17143	0.0		0.0	False		,,,				2504	0.0					ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1078-1080)Gcc>Acc		schlafen-like 1							25	25	25					1																	41482929		2199	4296	6495	SO:0001583	missense	200172						ATP binding	g.chr1:41482929C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1078G>A	1.37:g.41482929C>T	ENSP00000352299:p.Ala360Thr					SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000397197.2_Intron	p.A360T	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			3	3654	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	360					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.1078G>A	CCDS460.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.7	4.758338	0.89843	.	.	ENSG00000171790	ENST00000302946;ENST00000372611;ENST00000359345;ENST00000439569	T;T;T;T	0.27402	1.67;1.8;1.67;1.67	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000073	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.64506	0.926;0.565	T	0.12785	-1.0534	10	0.42905	T	0.14	-35.7209	15.047	0.71835	0.0:1.0:0.0:0.0	.	301;360	Q499Z3-2;Q499Z3	.;SLNL1_HUMAN	T	360;301;360;360	ENSP00000304401:A360T;ENSP00000361694:A301T;ENSP00000352299:A360T;ENSP00000398938:A360T	ENSP00000304401:A360T	A	-	1	0	SLFNL1	41255516	0.980000	0.34600	0.960000	0.40013	0.876000	0.50452	2.561000	0.45905	2.619000	0.88677	0.561000	0.74099	GCC		0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		10	51	0	0	0	1	0	10	51					T	41482929	C	T	41482929	3	4	79	1	0	0	0	0	1	0	0	0	14788	768	27	1	153	1	SLFNL1	1	41482929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8407	41482929	207767692	506	10823											
HIVEP3	59269	broad.mit.edu	37	chr1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgttctcctctgtccGggccaggatgtggccgtgga	15	10	2	1	rs192804009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372583.1	-	9	7396	c.6511C>T	c.(6511-6513)Cgg>Tgg	p.R2171W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2170W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2171					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCTGTCCGGGCCAGGATG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17024	0.001		0.0	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6508-6510)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	98	94	95		6508,6511	4	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2170/2406,2171/2407	41976832	1,13005	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976832G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6511C>T	1.37:g.41976832G>A	ENSP00000361664:p.Arg2171Trp					HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2171W	p.R2170W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7522	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2171					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6508C>T	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.717244	0.48622	0.0	1.16E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.94	3.99	0.46301	.	0.000000	0.43416	D	0.000575	T	0.12390	0.0301	L	0.29908	0.895	0.31181	N	0.702082	D;D	0.71674	0.998;0.997	P;P	0.56751	0.805;0.644	T	0.02505	-1.1149	10	0.56958	D	0.05	-9.1919	9.1971	0.37235	0.0:0.1599:0.6746:0.1654	.	2170;2171	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2170;2171;2171;2170	ENSP00000361665:R2170W;ENSP00000361664:R2171W;ENSP00000247584:R2171W;ENSP00000410828:R2170W	ENSP00000247584:R2171W	R	-	1	2	HIVEP3	41749419	1.000000	0.71417	0.983000	0.44433	0.342000	0.28953	3.272000	0.51616	1.243000	0.43853	0.561000	0.74099	CGG		0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		11	324	0	0	0	1	0	11	324					A	41976832	G	A	41976832	3	1	79	1	0	0	0	0	1	0	0	0	7218	1115	39	1	713	1	HIVEP3	1	41976832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493903	41976832	207273789	507	10824											
HIVEP3	59269	broad.mit.edu	37	chr1	41990569	41990569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacatatacatactcttcGtttgatttgtacctatgagc	6	10	1	2	rs200525352		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372583.1	-	6	6105	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000372584.1_Silent_p.N1740N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1740					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5218-5220)aaC>aaT		human immunodeficiency virus type I enhancer binding protein 3							94	87	89					1																	41990569		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990569G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5220C>T	1.37:g.41990569G>A						HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000372583.1_Silent_p.N1740N	p.N1740N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6234	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1740					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5220C>T	CCDS463.1																																																																																				0.488	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		38	269	0	0	0	1	0	38	269					A	41990569	G	A	41990569	2	1	79	1	0	0	0	0	0	0	0	1	7218	1136	40	1		1	HIVEP3	1	41990569	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13737	41990569	207260052	508	10825											
HIVEP3	59269	broad.mit.edu	37	chr1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagggtgagggaggggaGgaatttcctttgtgtcagat	17	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372583.1	-	4	5423	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4537-4539)cCt>cAt		human immunodeficiency virus type I enhancer binding protein 3							88	99	95					1																	42045931		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045931G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4538C>A	1.37:g.42045931G>T	ENSP00000361664:p.Pro1513His					HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513H	p.P1513H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5552	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1513					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4538C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143199	0.01728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.37	3.5	0.40072	.	0.685951	0.13398	N	0.390834	T	0.08133	0.0203	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.29243	-1.0018	10	0.56958	D	0.05	-4.7047	4.9459	0.13989	0.0727:0.1269:0.5488:0.2516	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1513	ENSP00000361665:P1513H;ENSP00000361664:P1513H;ENSP00000247584:P1513H;ENSP00000410828:P1513H	ENSP00000247584:P1513H	P	-	2	0	HIVEP3	41818518	0.993000	0.37304	0.007000	0.13788	0.263000	0.26337	1.773000	0.38563	0.830000	0.34757	-0.137000	0.14449	CCT		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		65	205	1	0	8.4772e-36	1	1.0133e-35	65	205					T	42045931	G	T	42045931	3	4	79	1	0	0	0	0	1	0	0	0	7218	1000	35	3	2706	3	HIVEP3	1	42045931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55362	42045931	207204690	509	10826											
HIVEP3	59269	broad.mit.edu	37	chr1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccttttgttttcaaaCccttcttggtctttttggta	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372583.1	-	4	2789	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G635D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1903-1905)gGt>gAt		human immunodeficiency virus type I enhancer binding protein 3							136	134	135					1																	42048565		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048565C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1904G>A	1.37:g.42048565C>T	ENSP00000361664:p.Gly635Asp					HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G635D	p.G635D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2918	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	635			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1904G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884831	0.51908	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000057	T	0.37517	0.1006	L	0.36672	1.1	0.41696	D	0.989374	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.05386	-1.0888	10	0.37606	T	0.19	-12.2882	12.0853	0.53693	0.172:0.828:0.0:0.0	.	635;635	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	635	ENSP00000361665:G635D;ENSP00000361664:G635D;ENSP00000247584:G635D;ENSP00000410828:G635D	ENSP00000247584:G635D	G	-	2	0	HIVEP3	41821152	0.998000	0.40836	0.873000	0.34254	0.968000	0.65278	4.299000	0.59073	2.326000	0.78906	0.555000	0.69702	GGT		0.478	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		112	540	0	0	0	1	0	112	540					T	42048565	C	T	42048565	3	4	79	1	0	0	0	0	1	0	0	0	7218	507	18	2	5340	2	HIVEP3	1	42048565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2634	42048565	207202056	510	10827											
HIVEP3	59269	broad.mit.edu	37	chr1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcctctcgcttaagCggagggccagcttctgctta	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372583.1	-	4	1985	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R367H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1099-1101)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							90	88	89					1																	42049369		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049369C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1100G>A	1.37:g.42049369C>T	ENSP00000361664:p.Arg367His					HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R367H	p.R367H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2114	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	367			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1100G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110022	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000175	T	0.53932	0.1827	L	0.27053	0.805	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.57717	-0.7763	10	0.72032	D	0.01	-0.0331	18.4234	0.90600	0.0:1.0:0.0:0.0	.	367;367	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	367	ENSP00000361665:R367H;ENSP00000361664:R367H;ENSP00000247584:R367H;ENSP00000410828:R367H	ENSP00000247584:R367H	R	-	2	0	HIVEP3	41821956	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.932000	0.70121	2.689000	0.91719	0.655000	0.94253	CGC		0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		90	337	0	0	0	1	0	90	337					T	42049369	C	T	42049369	3	4	79	1	0	0	0	0	1	0	0	0	7218	768	27	1	6144	1	HIVEP3	1	42049369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	42049369	207201252	511	10828											
FOXJ3	22887	broad.mit.edu	37	chr1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgataaatttcacttaaaGtcattttctttttgggtgag	7	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	100					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCACTTAAAGTCATTTTCTT	0.358																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(298-300)aCt>aAt		forkhead box J3							131	130	130					1																	42744089		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.chr1:42744089G>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.299C>A	1.37:g.42744089G>T	ENSP00000361653:p.Thr100Asn					FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			5	610	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	100					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.299C>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272096	0.80469	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98459	1.0595	10	0.87932	D	0	.	16.8493	0.85989	0.0:0.0:1.0:0.0	.	100;100	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	100;100;100;100;100;100;57	ENSP00000361654:T100N;ENSP00000361653:T100N;ENSP00000354620:T100N;ENSP00000354449:T100N;ENSP00000439044:T100N;ENSP00000393408:T100N;ENSP00000403060:T57N	ENSP00000354620:T100N	T	-	2	0	FOXJ3	42516676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.574000	0.86865	0.455000	0.32223	ACT		0.358	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		43	398	1	0	5.20837e-25	1	5.9682e-25	43	398					T	42744089	G	T	42744089	3	4	79	1	0	0	0	0	1	0	0	0	6040	1029	36	3	1613	3	FOXJ3	1	42744089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	694720	42744089	206506532	512	10829											
RIMKLA	284716	broad.mit.edu	37	chr1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttcttaaaggaaaagCtgtttttctggcaagagata	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	163	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(487-489)gCt>gAt		ribosomal modification protein rimK-like family member A							131	140	137					1																	42875661		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42875661C>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.488C>A	1.37:g.42875661C>A	ENSP00000414330:p.Ala163Asp						p.A163D	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			4	617	+			163			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.488C>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133153	0.77662	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.42	4.5	0.54988	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052389	0.85682	D	0.000000	T	0.75525	0.3861	M	0.63843	1.955	0.80722	D	1	B	0.30542	0.284	P	0.47786	0.557	T	0.77043	-0.2734	9	0.72032	D	0.01	-35.7252	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	163	Q8IXN7	RIMKA_HUMAN	D	39;163	.	ENSP00000387064:A39D	A	+	2	0	RIMKLA	42648248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.478000	0.66806	1.256000	0.44068	0.650000	0.86243	GCT		0.468	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		150	624	1	0	2.88375e-75	1	3.67652e-75	150	624					A	42875661	C	A	42875661	3	1	79	1	0	0	0	0	1	0	0	0	13415	797	28	3	502	3	RIMKLA	1	42875661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131572	42875661	206374960	513	10830											
LEPRE1	64175	broad.mit.edu	37	chr1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccccctggtgacagcCttcactccatgtgggttttc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000296388.5	-	14	2037	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N|LEPRE1_ENST00000236040.4_Missense_Mutation_p.K662N|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	662	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1984-1986)aaG>aaT		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						55	57	56					1																	43213012		2202	4300	6502	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213012C>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1986G>T	1.37:g.43213012C>A	ENSP00000296388:p.Lys662Asn		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Missense_Mutation_p.K662N|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N	p.K662N	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			14	2026	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	662			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1986G>T	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943455	0.53079	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.267222	0.42294	D	0.000724	T	0.47266	0.1436	N	0.25426	0.745	0.43719	D	0.996194	B;B;B	0.21147	0.052;0.011;0.036	B;B;B	0.17433	0.016;0.011;0.018	T	0.42361	-0.9456	10	0.52906	T	0.07	-35.5553	16.4003	0.83639	0.0:1.0:0.0:0.0	.	662;527;662	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	662;662;662;527	ENSP00000380245:K662N;ENSP00000236040:K662N;ENSP00000296388:K662N	ENSP00000236040:K662N	K	-	3	2	LEPRE1	42985599	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.479000	0.22228	2.466000	0.83321	0.655000	0.94253	AAG		0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		45	323	1	0	6.14515e-18	1	6.80267e-18	45	323					A	43213012	C	A	43213012	3	1	79	1	0	0	0	0	1	0	0	0	8760	680	24	3	251	3	LEPRE1	1	43213012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337351	43213012	206037609	514	10831											
LEPRE1	64175	broad.mit.edu	37	chr1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagggagcactcaccgTcacggtcttggcatccagtt	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000296388.5	-	13	1963	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A|LEPRE1_ENST00000236040.4_Missense_Mutation_p.T638A|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1912-1914)Acg>Gcg		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						190	189	189					1																	43213396		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213396T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1912A>G	1.37:g.43213396T>C	ENSP00000296388:p.Thr638Ala		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Missense_Mutation_p.T638A|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A	p.T638A	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			13	1952	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	638			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1912A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283536	0.80803	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.49813	0.1579	L	0.52206	1.635	0.47994	D	0.999569	P;P;D	0.58620	0.949;0.907;0.983	P;P;P	0.53593	0.73;0.589;0.715	T	0.53358	-0.8450	10	0.72032	D	0.01	-18.7453	12.8443	0.57821	0.0:0.0:0.0:1.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	638;638;638;503	ENSP00000380245:T638A;ENSP00000236040:T638A;ENSP00000296388:T638A	ENSP00000236040:T638A	T	-	1	0	LEPRE1	42985983	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.589000	0.82641	1.922000	0.55676	0.533000	0.62120	ACG		0.473	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		196	701	0	0	0	1	0	196	701					C	43213396	T	C	43213396	3	2	79	1	0	0	0	0	1	0	0	0	8760	1667	58	4	329	4	LEPRE1	1	43213396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	384	43213396	206037225	515	10832											
ERMAP	114625	broad.mit.edu	37	chr1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtccccattcccgcagcGctcccaggctgttcacatat	9	17	1	0	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	73	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCGCAGCGCTCCCAGGCT	0.622																																						ENST00000372517.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(217-219)cGc>cAc		erythroblast membrane-associated protein (Scianna blood group)		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	56	58		218,218	-7.9	0	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ERMAP	NM_001017922.1,NM_018538.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	73/476,73/476	43296571	1,13005	2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296571G>A	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.218G>A	1.37:g.43296571G>A	ENSP00000361595:p.Arg73His					ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H|ERMAP_ENST00000328249.3_5'UTR	p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN			4	462	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	73			Ig-like V-type.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.218G>A	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941175	0.73557	2.27E-4	0.0	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.65732	-0.17;-0.17	4.97	-7.88	0.01178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.993010	0.02380	N	0.078693	T	0.41442	0.1159	N	0.25485	0.75	0.20403	N	0.999905	B;D	0.54047	0.161;0.964	B;P	0.45946	0.012;0.498	T	0.53187	-0.8474	10	0.14656	T	0.56	.	0.3555	0.00356	0.24:0.2245:0.1643:0.3712	.	134;73	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	H	73	ENSP00000361595:R73H;ENSP00000361592:R73H	ENSP00000361592:R73H	R	+	2	0	ERMAP	43069158	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.950000	0.03889	-1.200000	0.02662	0.460000	0.39030	CGC		0.622	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		25	83	0	0	0	1	0	25	83					A	43296571	G	A	43296571	3	1	79	1	0	0	0	0	1	0	0	0	5252	1087	38	1	224	1	ERMAP	1	43296571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83175	43296571	205954050	516	10833											
SLC2A1	6513	broad.mit.edu	37	chr1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgccatgccagcgaggcCtatgaggtgcagggtccgcc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	340					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(1018-1020)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						114	109	111					1																	43394659		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43394659C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1018G>A	1.37:g.43394659C>T	ENSP00000416293:p.Gly340Ser					SLC2A1_ENST00000475162.1_Intron	p.G340S	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			8	1196	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	340					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.1018G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666946	0.96745	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84800	-1.9	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91337	0.5094	10	0.87932	D	0	.	16.9679	0.86291	0.0:1.0:0.0:0.0	.	340	P11166	GTR1_HUMAN	S	340;340;282	ENSP00000416293:G340S	ENSP00000361579:G340S	G	-	1	0	SLC2A1	43167246	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.440000	0.80464	2.601000	0.87937	0.650000	0.86243	GGC		0.612	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		125	563	0	0	0	1	0	125	563					T	43394659	C	T	43394659	3	4	79	1	0	0	0	0	1	0	0	0	14588	681	24	2	472	2	SLC2A1	1	43394659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98088	43394659	205855962	517	10834											
SLC2A1	6513	broad.mit.edu	37	chr1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcccgcatcatctgcCgactctcttccttcatctcc	3	19	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	249					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CI056492	SLC2A1	I		c.(745-747)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						142	135	138					1																	43395385		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395385C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.746G>A	1.37:g.43395385C>T	ENSP00000416293:p.Arg249Gln					SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.R249Q	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			6	924	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	249					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.746G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808952	0.16537	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73258	-0.73;-0.73	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054655	0.64402	D	0.000001	T	0.58736	0.2143	L	0.33137	0.985	0.80722	D	1	B	0.20988	0.05	B	0.14023	0.01	T	0.53005	-0.8499	10	0.27785	T	0.31	.	13.5086	0.61497	0.0:0.8422:0.1578:0.0	.	249	P11166	GTR1_HUMAN	Q	249;249;191;154	ENSP00000416293:R249Q;ENSP00000395521:R154Q	ENSP00000361579:R249Q	R	-	2	0	SLC2A1	43167972	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	2.614000	0.46359	1.152000	0.42452	-0.314000	0.08810	CGG		0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		62	715	0	0	0	1	0	62	715					T	43395385	C	T	43395385	3	4	79	1	0	0	0	0	1	0	0	0	14588	652	23	1	752	1	SLC2A1	1	43395385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	43395385	205855236	518	10835											
SLC2A1	6513	broad.mit.edu	37	chr1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccagtttcgagaagcCcatgagcacggcggacacga	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	111					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(331-333)Ggc>Tgc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						77	68	71					1																	43396482		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396482C>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.331G>T	1.37:g.43396482C>A	ENSP00000416293:p.Gly111Cys					SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C	p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			4	509	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	111					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.331G>T	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967324	0.92855	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000415851;ENST00000372500	D;D;D	0.82893	-1.66;-1.66;-1.66	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.90369	3.11	0.80722	D	1	P	0.47191	0.891	P	0.49597	0.616	D	0.91902	0.5532	10	0.87932	D	0	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	111	P11166	GTR1_HUMAN	C	111;111;16;111;111	ENSP00000416293:G111C;ENSP00000395521:G16C;ENSP00000361578:G111C	ENSP00000361578:G111C	G	-	1	0	SLC2A1	43169069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.581000	0.87130	0.555000	0.69702	GGC		0.587	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		20	150	1	0	9.7654e-05	1	9.93505e-05	20	150					A	43396482	C	A	43396482	3	1	79	1	0	0	0	0	1	0	0	0	14588	623	22	3	1175	3	SLC2A1	1	43396482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1097	43396482	205854139	519	10836											
TMEM125	128218	broad.mit.edu	37	chr1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgtgagcggacactgCccctccatctgtatggccac	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125	176						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632																																						ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(526-528)tgC>tgA		transmembrane protein 125							55	44	48					1																	43738921		2203	4300	6503	SO:0001587	stop_gained	128218					integral to membrane		g.chr1:43738921C>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.528C>A	1.37:g.43738921C>A	ENSP00000429275:p.Cys176*					TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*	p.C176*			Q96AQ2	TM125_HUMAN			4	1098	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	176					D3DPX1	Nonsense_Mutation	SNP	ENST00000432792.2	37	c.528C>A	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155432	0.94686	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	.	.	.	5.18	2.29	0.28610	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4935	0.16789	0.0:0.5731:0.1329:0.294	.	.	.	.	X	176	.	ENSP00000429275:C176X	C	+	3	2	TMEM125	43511508	0.005000	0.15991	0.844000	0.33320	0.131000	0.20780	-0.199000	0.09491	0.205000	0.20568	0.563000	0.77884	TGC		0.632	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		14	169	1	0	3.27435e-08	1	3.41456e-08	14	169					A	43738921	C	A	43738921	4	1	79	1	0	0	0	0	0	1	0	0	16089	747	26	3	530	3	TMEM125	1	43738921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342439	43738921	205511700	520	10837											
C1orf210	149466	broad.mit.edu	37	chr1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccctctgtccccagctcgCcagtcccaggctgaatgtaa	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	100						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592																																						ENST00000523677.1																			0				breast(1)	1						c.(298-300)gGc>gTc		chromosome 1 open reading frame 210							89	73	79					1																	43748499		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748499C>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.299G>T	1.37:g.43748499C>A	ENSP00000430918:p.Gly100Val					C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN			3	532	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	100					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.299G>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062315	0.55432	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.46063	0.88;0.88	5.67	3.39	0.38822	.	0.680689	0.14651	N	0.306584	T	0.27063	0.0663	L	0.29908	0.895	0.29499	N	0.855033	B	0.33171	0.4	B	0.31101	0.124	T	0.19811	-1.0294	10	0.52906	T	0.07	.	5.088	0.14693	0.0:0.6033:0.2052:0.1915	.	100	Q8IVY1	CA210_HUMAN	V	100	ENSP00000430918:G100V;ENSP00000429399:G100V	ENSP00000429399:G100V	G	-	2	0	C1orf210	43521086	0.086000	0.21541	0.099000	0.21106	0.823000	0.46562	1.133000	0.31430	1.344000	0.45657	0.561000	0.74099	GGC		0.592	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		26	318	1	0	8.58068e-18	1	9.49213e-18	26	318					A	43748499	C	A	43748499	3	1	79	1	0	0	0	0	1	0	0	0	2036	739	26	3	46	3	C1orf210	1	43748499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	43748499	205502122	521	10838											
TIE1	7075	broad.mit.edu	37	chr1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcctttctccccagacCggatcccccagatcctcaac	6	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	349					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1045-1047)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							73	61	65					1																	43774659		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774659C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1045C>T	1.37:g.43774659C>T	ENSP00000361554:p.Arg349Trp					TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	p.R349W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			8	1124	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	349					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1045C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000066056	ENST00000372476	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.000000	0.36374	N	0.002635	T	0.68063	0.2960	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27498	0.032;0.18;0.107	B;B;B	0.14578	0.003;0.011;0.007	T	0.65615	-0.6125	10	0.33940	T	0.23	.	11.1624	0.48522	0.0:0.916:0.0:0.084	.	304;349;349	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	W	349	ENSP00000361554:R349W	ENSP00000361554:R349W	R	+	1	2	TIE1	43547246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.396000	0.81511	0.563000	0.77884	CGG		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		70	260	0	0	0	1	0	70	260					T	43774659	C	T	43774659	3	4	79	1	0	0	0	0	1	0	0	0	15945	643	23	1	1075	1	TIE1	1	43774659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26160	43774659	205475962	522	10839											
TIE1	7075	broad.mit.edu	37	chr1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcagtgccccccgtgCccctggctgcacctcggctc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	449	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1345-1347)Ccc>Tcc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							54	59	57					1																	43777353		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777353C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1345C>T	1.37:g.43777353C>T	ENSP00000361554:p.Pro449Ser					TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	p.P449S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			10	1424	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	449			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1345C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144981	0.77888	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.79749	-1.3;0.89	5.03	4.11	0.48088	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217057	0.23356	N	0.049067	D	0.90304	0.6967	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;0.987;1.0;0.981	D;P;P;D;P	0.91635	0.998;0.75;0.763;0.999;0.873	D	0.91676	0.5354	10	0.72032	D	0.01	.	15.4145	0.74956	0.0:0.8602:0.1398:0.0	.	94;404;449;94;449	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	449;94	ENSP00000361554:P449S;ENSP00000411728:P94S	ENSP00000361554:P449S	P	+	1	0	TIE1	43549940	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.538000	0.53597	1.101000	0.41535	0.563000	0.77884	CCC		0.627	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		52	485	0	0	0	1	0	52	485					T	43777353	C	T	43777353	3	4	79	1	0	0	0	0	1	0	0	0	15945	739	26	2	1383	2	TIE1	1	43777353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2694	43777353	205473268	523	10840											
TIE1	7075	broad.mit.edu	37	chr1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcagctgaagagggcCtggatcagcagctgatcctg	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000433781.2_Missense_Mutation_p.L402M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	757					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2269-2271)Ctg>Atg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							43	44	43					1																	43779499		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779499C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2269C>A	1.37:g.43779499C>A	ENSP00000361554:p.Leu757Met					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	p.L757M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2348	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	757					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2269C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942425	0.34283	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77489	-1.05;-1.1	5.63	5.63	0.86233	.	0.000000	0.31809	N	0.007030	T	0.63920	0.2552	L	0.29908	0.895	0.29938	N	0.821281	B;B;B;B	0.27351	0.114;0.07;0.07;0.176	B;B;B;B	0.18561	0.022;0.01;0.01;0.017	T	0.60581	-0.7235	10	0.34782	T	0.22	.	9.8246	0.40903	0.1543:0.6966:0.149:0.0	.	402;712;402;757	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	M	757;160;40;402	ENSP00000361554:L757M;ENSP00000411728:L402M	ENSP00000361553:L160M	L	+	1	2	TIE1	43552086	0.948000	0.32251	1.000000	0.80357	0.955000	0.61496	1.931000	0.40134	2.651000	0.90000	0.655000	0.94253	CTG		0.642	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		21	150	1	0	1.28384e-07	1	1.33406e-07	21	150					A	43779499	C	A	43779499	3	1	79	1	0	0	0	0	1	0	0	0	15945	680	24	3	2323	3	TIE1	1	43779499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2146	43779499	205471122	524	10841											
MED8	112950	broad.mit.edu	37	chr1	43853238	43853238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctggttacggaacagcGgtgttttttcatgcttcaag	11	8	2	1	rs377550699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	ENST00000372457.4	-	3	249	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000310739.4_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	69					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAACAGCGGTGTTTTTTC	0.463																																						ENST00000372457.4																			0				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(205-207)cCg>cTg		mediator complex subunit 8		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	152	147	149		206,206	5.8	1	1		149	0,8600		0,0,4300	no	missense,missense	MED8	NM_052877.3,NM_201542.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	69/302,69/269	43853238	1,13005	2203	4300	6503	SO:0001583	missense	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43853238G>A	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.206C>T	1.37:g.43853238G>A	ENSP00000361535:p.Pro69Leu					MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Missense_Mutation_p.P69L|RP1-92O14.6_ENST00000436713.1_RNA	p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN			3	249	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	69					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	c.206C>T	CCDS487.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043288	0.93685	2.27E-4	0.0	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.83297	-0.0030	9	0.66056	D	0.02	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	69;69	Q96G25;Q96G25-2	MED8_HUMAN;.	L	69	.	ENSP00000290663:P69L	P	-	2	0	MED8	43625825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	CCG		0.463	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		19	272	0	0	0	1	0	19	272					A	43853238	G	A	43853238	3	1	79	1	0	0	0	0	1	0	0	0	9494	1116	39	1	727	1	MED8	1	43853238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73739	43853238	205397383	525	10842											
KIAA0467	23334	broad.mit.edu	37	chr1	43896456	43896456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagcctgcctacctgCctgggtgagtttgaggcagc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43896456C>T	ENST00000562955.1	+	31	4599	c.4599C>T	c.(4597-4599)tgC>tgT	p.C1533C	SZT2_ENST00000372442.1_Silent_p.C691C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1590					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTACCTGCCTGGGTGAGT	0.592																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4597-4599)tgC>tgT		seizure threshold 2 homolog (mouse)							67	72	70					1																	43896456		2203	4299	6502	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43896456C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4599C>T	1.37:g.43896456C>T						SZT2_ENST00000372442.1_Silent_p.C691C	p.C1533C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			31	4599	+			1590					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4599C>T	CCDS30694.2																																																																																				0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		57	594	0	0	0	1	0	57	594					T	43896456	C	T	43896456	2	4	79	1	0	0	0	0	0	0	0	1	8208	747	26	2		2	KIAA0467	1	43896456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43218	43896456	205354165	526	10843											
KIAA0467	23334	broad.mit.edu	37	chr1	43912042	43912042	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgtcaaacagtttgcCctggaatgttcccgaatccc	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912042C>A	ENST00000562955.1	+	64	8856	c.8856C>A	c.(8854-8856)gcC>gcA	p.A2952A	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.A2110A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3009					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AACAGTTTGCCCTGGAATGTT	0.562																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8854-8856)gcC>gcA		seizure threshold 2 homolog (mouse)							145	128	134					1																	43912042		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912042C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8856C>A	1.37:g.43912042C>A						SZT2_ENST00000372442.1_Silent_p.A2110A	p.A2952A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			64	8856	+			3009					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8856C>A	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		15	335	1	0	2.62699e-14	1	2.8508e-14	15	335					A	43912042	C	A	43912042	2	1	79	1	0	0	0	0	0	0	0	1	8208	610	22	3		3	KIAA0467	1	43912042	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15586	43912042	205338579	527	10844											
KIAA0467	23334	broad.mit.edu	37	chr1	43912779	43912779	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctcaccacctttctgCgacacttcctggcccaccac	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912779C>T	ENST00000562955.1	+	65	9055	c.9055C>T	c.(9055-9057)Cga>Tga	p.R3019*	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Nonsense_Mutation_p.R2177*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3076					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCTTTCTGCGACACTTCCT	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9055-9057)Cga>Tga		seizure threshold 2 homolog (mouse)							132	91	105					1																	43912779		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43912779C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9055C>T	1.37:g.43912779C>T	ENSP00000457168:p.Arg3019*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.R2177*	p.R3019*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	9055	+			3076					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.9055C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	49	15.568687	0.99838	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	3.5	0.40072	.	0.394513	0.28706	N	0.014420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	10.1138	0.42579	0.2329:0.5971:0.17:0.0	.	.	.	.	X	2177	.	ENSP00000361519:R2177X	R	+	1	2	SZT2	43685366	1.000000	0.71417	0.801000	0.32222	0.998000	0.95712	3.002000	0.49496	0.717000	0.32145	0.655000	0.94253	CGA		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	100	0	0	0	1	0	14	100					T	43912779	C	T	43912779	4	4	79	1	0	0	0	0	0	1	0	0	8208	760	27	1	6723	1	KIAA0467	1	43912779	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	737	43912779	205337842	528	10845											
PTPRF	5792	broad.mit.edu	37	chr1	44056764	44056764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatccagtaccgcgcagcGggcacggagggcccctttca	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Silent_p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCGCAGCGGGCACGGAGG	0.612																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1069-1071)gcG>gcA		protein tyrosine phosphatase, receptor type, F							73	81	78					1																	44056764		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056764G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1071G>A	1.37:g.44056764G>A						PTPRF_ENST00000372414.3_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000438120.1_Silent_p.A357A	p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1411	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	357			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1071G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160491|1.160491	0.21454|0.21454	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.48|5.48	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	T|T	0.45115|0.45115	0.1326|0.1326	.|.	.|.	.|.	0.33155|0.33155	D|D	0.546231|0.546231	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52193|0.52193	-0.8608|-0.8608	4|4	.|.	.|.	.|.	.|.	9.8855|9.8855	0.41260|0.41260	0.634:0.0:0.2527:0.1133|0.634:0.0:0.2527:0.1133	.|.	.|.	.|.	.|.	R|Q	25|14	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829351|43829351	0.008000|0.008000	0.16893|0.16893	0.036000|0.036000	0.18154|0.18154	0.961000|0.961000	0.63080|0.63080	-0.143000|-0.143000	0.10296|0.10296	-1.210000|-1.210000	0.02627|0.02627	-0.253000|-0.253000	0.11424|0.11424	GGG|CGG		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			123	510	0	0	0	1	0	123	510					A	44056764	G	A	44056764	2	1	79	1	0	0	0	0	0	0	0	1	12851	1103	39	1		1	PTPRF	1	44056764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143985	44056764	205193857	529	10846											
PTPRF	5792	broad.mit.edu	37	chr1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaggcagtgcgggcacGcacgggagaacaggcgccct	17	13	0	1	rs373662568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	ENST00000359947.4	+	9	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCGGGCACGCACGGGAGAA	0.701																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1219-1221)cGc>cAc		protein tyrosine phosphatase, receptor type, F		G	HIS/ARG,HIS/ARG	1,4383		0,1,2191	12	13	13		1220,1220	5.5	1	1		13	0,8550		0,0,4275	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6466	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	407/1908,407/1899	44056913	1,12933	2192	4275	6467	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056913G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1220G>A	1.37:g.44056913G>A	ENSP00000353030:p.Arg407His					PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H	p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	407			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1220G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.091682|4.091682	0.76756|0.76756	2.28E-4|2.28E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.56776	.|0.44;0.44;0.44;0.44	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.34555	.|N	.|0.003863	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.79784	.|0.993;0.835	T|T	0.76130|0.76130	-0.3072|-0.3072	5|10	.|0.66056	.|D	.|0.02	.|.	13.0068|13.0068	0.58710|0.58710	0.0737:0.0:0.9262:0.0|0.0737:0.0:0.9262:0.0	.|.	.|407;407	.|P10586-2;P10586	.|.;PTPRF_HUMAN	T|H	64|407	.|ENSP00000353030:R407H;ENSP00000398822:R407H;ENSP00000361491:R407H;ENSP00000361490:R407H	.|ENSP00000353030:R407H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43829500|43829500	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.961000|0.961000	0.63080|0.63080	5.813000|5.813000	0.69201|0.69201	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	79	0	0	0	1	0	12	79					A	44056913	G	A	44056913	3	1	79	1	0	0	0	0	1	0	0	0	12851	1087	38	1	1246	1	PTPRF	1	44056913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	44056913	205193708	530	10847											
PTPRF	5792	broad.mit.edu	37	chr1	44070974	44070974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaaccgtggcagcagCgcagggggcctgcagcacct	15	13	0	2	rs563797561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1083	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGCAGCAGCGCAGGGGGCC	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18036	0.001		0.0	False		,,,				2504	0.001					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3247-3249)agC>agT		protein tyrosine phosphatase, receptor type, F							57	61	59					1																	44070974		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44070974C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3249C>T	1.37:g.44070974C>T						PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000438120.1_Silent_p.S1074S	p.S1083S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			18	3589	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1083			Fibronectin type-III 8.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3249C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052874|1.052874	0.19907|0.19907	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.31|5.31	-5.64|-5.64	0.02466|0.02466	.|.	.|.	.|.	.|.	.|.	T|T	0.65217|0.65217	0.2670|0.2670	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66905|0.66905	-0.5805|-0.5805	4|4	.|.	.|.	.|.	.|.	16.6775|16.6775	0.85283|0.85283	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|.	.|.	.|.	V|C	729|456;497	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43843561|43843561	0.002000|0.002000	0.14202|0.14202	0.437000|0.437000	0.26809|0.26809	0.853000|0.853000	0.48598|0.48598	-1.240000|-1.240000	0.02914|0.02914	-1.139000|-1.139000	0.02881|0.02881	-0.229000|-0.229000	0.12294|0.12294	GCG|CGC		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			43	389	0	0	0	1	0	43	389					T	44070974	C	T	44070974	2	4	79	1	0	0	0	0	0	0	0	1	12851	767	27	1		1	PTPRF	1	44070974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14061	44070974	205179647	531	10848											
PTPRF	5792	broad.mit.edu	37	chr1	44071037	44071037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcctgcctcacaagccGctgcctgcctctgcctacat	7	19	2	0	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1104					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCACAAGCCGCTGCCTGCCT	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3310-3312)ccG>ccA		protein tyrosine phosphatase, receptor type, F		A	,	1,4405	2.1+/-5.4	0,1,2202	47	51	50		3312,3285	-10.6	0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1104/1908,1095/1899	44071037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071037G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3312G>A	1.37:g.44071037G>A						PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000438120.1_Silent_p.P1095P	p.P1104P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			18	3652	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1104					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3312G>A	CCDS489.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.624|1.624	-0.520643|-0.520643	0.04171|0.04171	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	.|.	4.2496|4.2496	0.10688|0.10688	0.5499:0.158:0.1774:0.1148|0.5499:0.158:0.1774:0.1148	.|.	.|.	.|.	.|.	T|H	477;518|750	.|.	.|.	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43843624|43843624	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.287000|0.287000	0.27160|0.27160	-1.888000|-1.888000	0.01616|0.01616	-2.539000|-2.539000	0.00486|0.00486	-1.290000|-1.290000	0.01357|0.01357	GCT|CGC		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			34	289	0	0	0	1	0	34	289					A	44071037	G	A	44071037	2	1	79	1	0	0	0	0	0	0	0	1	12851	1074	38	1		1	PTPRF	1	44071037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	44071037	205179584	532	10849											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	719						7	719	---	---	---	---	-	44071948	GCG	-	44071946	7	5	79	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-7651-01A-11D-2154-08	909	44071946	205178675	533	10850											
PTPRF	5792	broad.mit.edu	37	chr1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgaccgccatggagctcGagttcaaggtggggctcggg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(4924-4926)Gag>Aag		protein tyrosine phosphatase, receptor type, F							41	44	43					1																	44085236		2203	4299	6502	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085236G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4924G>A	1.37:g.44085236G>A	ENSP00000353030:p.Glu1642Lys					PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K	p.E1642K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			28	5264	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1642			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4924G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252917|4.252917	0.80135|0.80135	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29;2.29|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34750|.	N|.	0.003720|.	D|D	0.88043|0.88043	0.6331|0.6331	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.986;0.995;0.995;0.993;0.996|.	D|D	0.91784|0.91784	0.5438|0.5438	10|5	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1287;1001;1219;1633;1642|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1642;1633;1642;1633;1001;714|1025;1066	ENSP00000353030:E1642K;ENSP00000398822:E1633K;ENSP00000361491:E1642K;ENSP00000361490:E1633K;ENSP00000387885:E1001K;ENSP00000361484:E714K|.	ENSP00000353030:E1642K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.652	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			39	248	0	0	0	1	0	39	248					A	44085236	G	A	44085236	3	1	79	1	0	0	0	0	1	0	0	0	12851	1059	37	1	5026	1	PTPRF	1	44085236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13290	44085236	205165385	534	10851											
KDM4A	9682	broad.mit.edu	37	chr1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttaagcaagctcccccGccatcacccacttgtgctgc	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	605	Interaction with NCOR1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGCTCCCCCGCCATCACCCA	0.478																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1813-1815)cGc>cAc		lysine (K)-specific demethylase 4A							105	101	103					1																	44149434		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44149434G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1814G>A	1.37:g.44149434G>A	ENSP00000361473:p.Arg605His						p.R605H	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			12	1948	+			605			Interaction with NCOR1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1814G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231546	0.95207	.	.	ENSG00000066135	ENST00000372396	T	0.42131	0.98	5.47	5.47	0.80525	.	0.115168	0.53938	D	0.000054	T	0.61664	0.2365	L	0.55481	1.735	0.49687	D	0.999811	D	0.76494	0.999	D	0.76071	0.987	T	0.59429	-0.7456	10	0.46703	T	0.11	-13.6714	18.988	0.92780	0.0:0.0:1.0:0.0	.	605	O75164	KDM4A_HUMAN	H	605	ENSP00000361473:R605H	ENSP00000361473:R605H	R	+	2	0	KDM4A	43922021	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.224000	0.89781	2.589000	0.87451	0.551000	0.68910	CGC		0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		32	344	0	0	0	1	0	32	344					A	44149434	G	A	44149434	3	1	79	1	0	0	0	0	1	0	0	0	8158	1087	38	1	1856	1	KDM4A	1	44149434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64198	44149434	205101187	535	10852											
KDM4A	9682	broad.mit.edu	37	chr1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgtgaagtggtcaGgctcaccaccgagaccttct	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	921	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGTGGTCAGGCTCACCACC	0.493																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2761-2763)aGg>aTg		lysine (K)-specific demethylase 4A							122	117	119					1																	44163605		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163605G>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2762G>T	1.37:g.44163605G>T	ENSP00000361473:p.Arg921Met						p.R921M	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2896	+			921			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2762G>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855743	0.51376	.	.	ENSG00000066135	ENST00000372396	T	0.71698	-0.59	6.08	1.2	0.21068	Tudor domain (1);	0.358324	0.35772	N	0.002996	T	0.52289	0.1725	N	0.22421	0.69	0.28794	N	0.899132	P	0.35600	0.511	B	0.34824	0.19	T	0.51196	-0.8736	10	0.56958	D	0.05	-12.0289	8.7145	0.34403	0.1434:0.412:0.4446:0.0	.	921	O75164	KDM4A_HUMAN	M	921	ENSP00000361473:R921M	ENSP00000361473:R921M	R	+	2	0	KDM4A	43936192	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.566000	0.45948	0.334000	0.23590	0.655000	0.94253	AGG		0.493	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		39	335	1	0	2.59497e-14	1	2.81812e-14	39	335					T	44163605	G	T	44163605	3	4	79	1	0	0	0	0	1	0	0	0	8158	1000	35	3	2832	3	KDM4A	1	44163605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14171	44163605	205087016	536	10853											
KDM4A	9682	broad.mit.edu	37	chr1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacaatctttatcctgAggacatagtggtaatatctg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	944	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTATCCTGAGGACATAGTG	0.498																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2830-2832)gAg>gCg		lysine (K)-specific demethylase 4A							101	98	99					1																	44163674		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163674A>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2831A>C	1.37:g.44163674A>C	ENSP00000361473:p.Glu944Ala						p.E944A	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2965	+			944			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2831A>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263999	0.95399	.	.	ENSG00000066135	ENST00000372396	T	0.20598	2.06	6.08	6.08	0.98989	Tudor domain (1);	0.043479	0.85682	D	0.000000	T	0.32224	0.0822	M	0.80982	2.52	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.31081	-0.9956	10	0.66056	D	0.02	-26.9569	16.6438	0.85155	1.0:0.0:0.0:0.0	.	944	O75164	KDM4A_HUMAN	A	944	ENSP00000361473:E944A	ENSP00000361473:E944A	E	+	2	0	KDM4A	43936261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG		0.498	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		66	235	0	0	0	1	0	66	235					C	44163674	A	C	44163674	3	2	79	1	0	0	0	0	1	0	0	0	8158	304	11	4	2901	4	KDM4A	1	44163674	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	44163674	205086947	537	10854											
IPO13	9670	broad.mit.edu	37	chr1	44425977	44425977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggtgctgagcaaatgGttgaatgatgcccaggttgt	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44425977G>A	ENST00000372343.3	+	12	2747	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	695					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGCAAATGGTTGAATGATG	0.552																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2083-2085)tgG>tgA		importin 13							312	252	272					1																	44425977		2203	4300	6503	SO:0001587	stop_gained	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425977G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2085G>A	1.37:g.44425977G>A	ENSP00000361418:p.Trp695*						p.W695*	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2747	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	695					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Nonsense_Mutation	SNP	ENST00000372343.3	37	c.2085G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	47	13.170517	0.99724	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-14.3335	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	ENSP00000361418:W695X	W	+	3	0	IPO13	44198564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.530000	0.98051	2.941000	0.99782	0.655000	0.94253	TGG		0.552	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		13	971	0	0	0	1	0	13	971					A	44425977	G	A	44425977	4	1	79	1	0	0	0	0	0	1	0	0	7824	1270	44	2	2131	2	IPO13	1	44425977	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262303	44425977	204824644	538	10855											
KLF17	128209	broad.mit.edu	37	chr1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctaccaagcattcaGcactttcctcacagcgcaga	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	59					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(175-177)caG>caT		Kruppel-like factor 17							93	80	85					1																	44595120		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595120G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.177G>T	1.37:g.44595120G>T	ENSP00000361373:p.Gln59His					KLF17_ENST00000476802.1_3'UTR	p.Q59H	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	235	+	Acute lymphoblastic leukemia(166;0.155)		59					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.177G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865481	0.51588	.	.	ENSG00000171872	ENST00000372299	T	0.10573	2.86	4.58	-5.08	0.02929	.	0.272363	0.26638	N	0.023272	T	0.05640	0.0148	L	0.34521	1.04	0.09310	N	1	B	0.34290	0.447	B	0.30179	0.112	T	0.13764	-1.0497	10	0.56958	D	0.05	.	6.6062	0.22726	0.2676:0.2857:0.4468:0.0	.	59	Q5JT82	KLF17_HUMAN	H	59	ENSP00000361373:Q59H	ENSP00000361373:Q59H	Q	+	3	2	KLF17	44367707	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.393000	0.07305	-1.037000	0.03283	-0.781000	0.03364	CAG		0.547	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		41	356	1	0	1.96642e-18	1	2.182e-18	41	356					T	44595120	G	T	44595120	3	4	79	1	0	0	0	0	1	0	0	0	8375	962	34	3	183	3	KLF17	1	44595120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169143	44595120	204655501	539	10856											
KLF17	128209	broad.mit.edu	37	chr1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctaccagagcagcccGgacctgctccacagacagta	8	15	1	2	rs200292026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	256					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(766-768)Gga>Aga		Kruppel-like factor 17		A	ARG/GLY	0,4406		0,0,2203	54	58	57		766	-0.4	0	1		57	1,8599	818.0+/-406.9	0,1,4299	no	missense	KLF17	NM_173484.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	256/390	44595709	1,13005	2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595709G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.766G>A	1.37:g.44595709G>A	ENSP00000361373:p.Gly256Arg					KLF17_ENST00000476802.1_3'UTR	p.G256R	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	824	+	Acute lymphoblastic leukemia(166;0.155)		256					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.766G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044501	0.08196	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.65	-0.406	0.12389	.	1.149600	0.06340	N	0.707762	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	.	3.4088	0.07351	0.4837:0.0:0.1661:0.3502	.	256	Q5JT82	KLF17_HUMAN	R	256	ENSP00000361373:G256R	ENSP00000361373:G256R	G	+	1	0	KLF17	44368296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.802000	0.04545	-0.325000	0.08577	-0.381000	0.06696	GGA		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		36	318	0	0	0	1	0	36	318					A	44595709	G	A	44595709	3	1	79	1	0	0	0	0	1	0	0	0	8375	1117	39	1	772	1	KLF17	1	44595709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	589	44595709	204654912	540	10857											
DMAP1	55929	broad.mit.edu	37	chr1	44684367	44684367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagataccagtatttgatgcTgggcacgaacgacggcggaa	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000361745.6_Silent_p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	220					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(658-660)gcT>gcC		DNA methyltransferase 1 associated protein 1							120	114	116					1																	44684367		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44684367T>C	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.660T>C	1.37:g.44684367T>C			OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.A220A|DMAP1_ENST00000315913.5_Silent_p.A220A	p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			5	923	+	Acute lymphoblastic leukemia(166;0.155)		220					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.660T>C	CCDS509.1																																																																																				0.567	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		85	293	0	0	0	1	0	85	293					C	44684367	T	C	44684367	2	2	79	1	0	0	0	0	0	0	0	1	4592	1567	55	4		4	DMAP1	1	44684367	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88658	44684367	204566254	541	10858											
RNF220	55182	broad.mit.edu	37	chr1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccaatttgccccatctgCcaggtcctgctgaggcccag	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	227					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(679-681)tgC>tgA		ring finger protein 220							94	90	91					1																	45079892		2203	4300	6503	SO:0001587	stop_gained	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45079892C>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.681C>A	1.37:g.45079892C>A	ENSP00000347548:p.Cys227*					RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR	p.C227*			Q5VTB9	RN220_HUMAN			3	1131	+			227					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	ENST00000355387.2	37	c.681C>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.960329	0.97145	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.14	1.22	0.21188	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1671	0.20396	0.1204:0.6103:0.0:0.2693	.	.	.	.	X	227	.	ENSP00000347548:C227X	C	+	3	2	RNF220	44852479	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.174000	0.42482	0.072000	0.16694	-0.145000	0.13849	TGC		0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		54	493	1	0	5.22555e-25	1	5.98653e-25	54	493					A	45079892	C	A	45079892	4	1	79	1	0	0	0	0	0	1	0	0	13533	747	26	3	687	3	RNF220	1	45079892	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395525	45079892	204170729	542	10859											
RNF220	55182	broad.mit.edu	37	chr1	45111149	45111149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagacctgcaagaacagCgacatcgagaagtaagtgtt	11	8	0	4	rs569107205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000372247.2_Silent_p.S478S			Q5VTB9	RN220_HUMAN	ring finger protein 220	478					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21947	0.0		0.0	False		,,,				2504	0.001					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1432-1434)agC>agT		ring finger protein 220							112	95	100					1																	45111149		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45111149C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1434C>T	1.37:g.45111149C>T						TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000372247.2_Silent_p.S478S|RNF220_ENST00000443020.2_Silent_p.S265S	p.S478S			Q5VTB9	RN220_HUMAN			12	1884	+			478					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.1434C>T	CCDS510.1																																																																																				0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		22	148	0	0	0	1	0	22	148					T	45111149	C	T	45111149	2	4	79	1	0	0	0	0	0	0	0	1	13533	767	27	1		1	RNF220	1	45111149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31257	45111149	204139472	543	10860											
BEST4	266675	broad.mit.edu	37	chr1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctccgaagcgggcctccGccactttgagagtgtatgaa	11	12	0	2	rs16832247	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	10						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(28-30)gCg>gTg		bestrophin 4							53	63	59					1																	45253349		2203	4300	6503	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253349G>A	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.29C>T	1.37:g.45253349G>A	ENSP00000361281:p.Ala10Val						p.A10V	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			1	28	-	Acute lymphoblastic leukemia(166;0.155)		10					Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.29C>T	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980682	0.74474	.	.	ENSG00000142959	ENST00000372207	D	0.98732	-5.1	4.68	2.79	0.32731	.	0.187640	0.45126	N	0.000399	D	0.99158	0.9709	H	0.94925	3.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.98974	1.0802	10	0.87932	D	0	-3.1961	7.1703	0.25715	0.0913:0.0:0.7384:0.1704	rs16832247;rs16832247	10	Q8NFU0	BEST4_HUMAN	V	10	ENSP00000361281:A10V	ENSP00000361281:A10V	A	-	2	0	BEST4	45025936	1.000000	0.71417	0.448000	0.26945	0.612000	0.37316	7.800000	0.85949	0.570000	0.29347	0.655000	0.94253	GCG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		44	473	0	0	0	1	0	44	473					A	45253349	G	A	45253349	3	1	79	1	0	0	0	0	1	0	0	0	1408	1087	38	1	1428	1	BEST4	1	45253349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142200	45253349	203997272	544	10861											
PLK3	1263	broad.mit.edu	37	chr1	45268516	45268516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggatgtatggtcactGggctgtgtcatgtgagttgc	17	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	ENST00000372201.4	+	6	977	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TATGGTCACTGGGCTGTGTCA	0.607																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(736-738)ctG>ctA		polo-like kinase 3							85	86	86					1																	45268516		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268516G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.738G>A	1.37:g.45268516G>A						PLK3_ENST00000465443.1_3'UTR	p.L246L	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			6	977	+	Acute lymphoblastic leukemia(166;0.155)		246			Protein kinase.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.738G>A	CCDS515.1																																																																																				0.607	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		9	343	0	0	0	1	0	9	343					A	45268516	G	A	45268516	2	1	79	1	0	0	0	0	0	0	0	1	12139	1335	47	2		2	PLK3	1	45268516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15167	45268516	203982105	545	10862											
PLK3	1263	broad.mit.edu	37	chr1	45270982	45270982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagaggtacctgctccGcccttgctgctgcagtgggt	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	560					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1678-1680)ccG>ccA		polo-like kinase 3							175	137	150					1																	45270982		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270982G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1680G>A	1.37:g.45270982G>A						PLK3_ENST00000465443.1_3'UTR	p.P560P	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1919	+	Acute lymphoblastic leukemia(166;0.155)		560					Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1680G>A	CCDS515.1																																																																																				0.592	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		36	324	0	0	0	1	0	36	324					A	45270982	G	A	45270982	2	1	79	1	0	0	0	0	0	0	0	1	12139	1074	38	1		1	PLK3	1	45270982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2466	45270982	203979639	546	10863											
PLK3	1263	broad.mit.edu	37	chr1	45271006	45271006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctgctgcagtgggtcaaGacggatcaggctctcctcat	12	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	568	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1702-1704)aaG>aaA		polo-like kinase 3							184	143	157					1																	45271006		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271006G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1704G>A	1.37:g.45271006G>A						PLK3_ENST00000465443.1_3'UTR	p.K568K	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1943	+	Acute lymphoblastic leukemia(166;0.155)		568			POLO box 2.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1704G>A	CCDS515.1																																																																																				0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		91	330	0	0	0	1	0	91	330					A	45271006	G	A	45271006	2	1	79	1	0	0	0	0	0	0	0	1	12139	933	33	2		2	PLK3	1	45271006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	45271006	203979615	547	10864											
TCTEX1D4	343521	broad.mit.edu	37	chr1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaccgaggccagcccatCgcgcgccacgtcccagagcg	14	17	0	2	rs571986288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000339355.2	-	1	595	c.589G>A	c.(589-591)Gat>Aat	p.D197N	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	197						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672																																						ENST00000372200.1																			0				pancreas(1)	1						c.(589-591)Gat>Aat		Tctex1 domain containing 4							16	19	18					1																	45271752		2202	4297	6499	SO:0001583	missense	343521							g.chr1:45271752C>T	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.589G>A	1.37:g.45271752C>T	ENSP00000341803:p.Asp197Asn					TCTEX1D4_ENST00000339355.2_Missense_Mutation_p.D197N	p.D197N	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN			2	1097	-	Acute lymphoblastic leukemia(166;0.155)		197						Missense_Mutation	SNP	ENST00000339355.2	37	c.589G>A	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794210	0.70452	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	D	0.88081	0.6341	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90925	0.4786	10	0.87932	D	0	-5.9617	15.9529	0.79859	0.0:1.0:0.0:0.0	.	197	Q5JR98	TC1D4_HUMAN	N	197	ENSP00000341803:D197N;ENSP00000361274:D197N	ENSP00000341803:D197N	D	-	1	0	TCTEX1D4	45044339	0.999000	0.42202	0.156000	0.22583	0.084000	0.17831	5.615000	0.67702	2.540000	0.85666	0.555000	0.69702	GAT		0.672	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		11	118	0	0	0	1	0	11	118					T	45271752	C	T	45271752	3	4	79	1	0	0	0	0	1	0	0	0	15773	884	31	1	80	1	TCTEX1D4	1	45271752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	45271752	203978869	548	10865											
PTCH2	8643	broad.mit.edu	37	chr1	45292982	45292982	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaggcagcctggattcCtgggggagaccaggataggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000372192.3	-	16	2502		c.e16-1		PTCH2_ENST00000447098.2_Splice_Site	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2						epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.e16-1		patched 2							56	62	60					1																	45292982		2203	4300	6503	SO:0001630	splice_region_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292982C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2372-1G>T	1.37:g.45292982C>A						PTCH2_ENST00000372192.3_Splice_Site		NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			16	2383	-	Acute lymphoblastic leukemia(166;0.155)							O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Splice_Site	SNP	ENST00000372192.3	37		CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725120	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH2	45065569	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	5.634000	0.67833	2.402000	0.81655	0.557000	0.71058	.		0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	Intron	103	330	1	0	2.6418e-55	1	3.30104e-55	103	330					A	45292982	C	A	45292982	5	1	79	1	0	0	0	0	0	0	1	0	12778	695	24	3	1288	3	PTCH2	1	45292982	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21230	45292982	203957639	549	10866											
PTCH2	8643	broad.mit.edu	37	chr1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctgctggcttcacaGtgggtaaaggcttgaactgt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000372192.3	-	14	1945	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	605					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1813-1815)caC>caA		patched 2							84	92	89					1																	45293758		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293758G>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1815C>A	1.37:g.45293758G>T	ENSP00000361266:p.His605Gln					PTCH2_ENST00000372192.3_Missense_Mutation_p.H605Q	p.H605Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			14	1826	-	Acute lymphoblastic leukemia(166;0.155)		605					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1815C>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957861	0.18507	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91843	-2.92;-2.92	4.76	-0.0199	0.13958	.	0.282191	0.25587	N	0.029644	T	0.72581	0.3478	N	0.02368	-0.58	0.33946	D	0.643859	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.61936	-0.6960	10	0.15499	T	0.54	-32.9926	3.0358	0.06122	0.0915:0.3089:0.3805:0.219	.	605;605	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	605	ENSP00000389703:H605Q;ENSP00000361266:H605Q	ENSP00000361266:H605Q	H	-	3	2	PTCH2	45066345	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	1.811000	0.38942	0.402000	0.25451	0.557000	0.71058	CAC		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		49	455	1	0	3.86236e-30	1	4.52529e-30	49	455					T	45293758	G	T	45293758	3	4	79	1	0	0	0	0	1	0	0	0	12778	1020	36	3	1852	3	PTCH2	1	45293758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	45293758	203956863	550	10867											
PTCH2	8643	broad.mit.edu	37	chr1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagccagagtggaGccttcaggctcccagctagg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000372192.3	-	2	225	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	32					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(94-96)gCt>gTt		patched 2							83	86	85					1																	45307689		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307689G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.95C>T	1.37:g.45307689G>A	ENSP00000361266:p.Ala32Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A32V	p.A32V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			2	106	-	Acute lymphoblastic leukemia(166;0.155)		32					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.95C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002097	0.93227	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	T	0.81437	0.4822	L	0.51422	1.61	0.52501	D	0.999955	P	0.38788	0.647	B	0.41946	0.371	T	0.81829	-0.0753	10	0.40728	T	0.16	-6.674	16.0996	0.81163	0.0:0.0:1.0:0.0	.	32	Q9Y6C5	PTC2_HUMAN	V	32	ENSP00000389703:A32V;ENSP00000361266:A32V	ENSP00000361266:A32V	A	-	2	0	PTCH2	45080276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.325000	0.78763	0.561000	0.74099	GCT		0.537	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		79	347	0	0	0	1	0	79	347					A	45307689	G	A	45307689	3	1	79	1	0	0	0	0	1	0	0	0	12778	971	34	2	3620	2	PTCH2	1	45307689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13931	45307689	203942932	551	10868											
EIF2B3	8891	broad.mit.edu	37	chr1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaggcaattggtaataGtcactctatcttttatgaga	9	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	386					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ATTGGTAATAGTCACTCTATC	0.453																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(1156-1158)aCt>aTt		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							176	164	168					1																	45340395		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45340395G>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1157C>T	1.37:g.45340395G>A	ENSP00000353575:p.Thr386Ile					EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			10	1283	-	Acute lymphoblastic leukemia(166;0.155)		386					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1157C>T	CCDS517.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863932	0.51482	.	.	ENSG00000070785	ENST00000360403;ENST00000372183	T;D	0.93906	0.53;-3.31	5.52	3.46	0.39613	.	0.392077	0.30126	N	0.010343	D	0.89860	0.6837	L	0.42008	1.315	0.27819	N	0.941852	B;B;B	0.22541	0.001;0.071;0.001	B;B;B	0.27608	0.009;0.081;0.004	D	0.83820	0.0246	10	0.46703	T	0.11	-0.8284	11.9317	0.52849	0.0:0.0:0.4066:0.5933	.	386;386;386	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	386	ENSP00000353575:T386I;ENSP00000361257:T386I	ENSP00000353575:T386I	T	-	2	0	EIF2B3	45112982	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.955000	0.56715	1.312000	0.45043	0.655000	0.94253	ACT		0.453	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		17	472	0	0	0	1	0	17	472					A	45340395	G	A	45340395	3	1	79	1	0	0	0	0	1	0	0	0	5018	1029	36	2	250	2	EIF2B3	1	45340395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	45340395	203910226	552	10869											
HECTD3	79654	broad.mit.edu	37	chr1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactacctgctccttgctctCctctagccgtgccttctgga	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	710	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCTCTCCTCTAGCCGT	0.602																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(2128-2130)Gag>Tag		HECT domain containing E3 ubiquitin protein ligase 3							129	132	131					1																	45470286		2073	4210	6283	SO:0001587	stop_gained	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45470286C>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2128G>T	1.37:g.45470286C>A	ENSP00000361245:p.Glu710*					HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	p.E710*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			16	2199	-	Acute lymphoblastic leukemia(166;0.155)		710			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Nonsense_Mutation	SNP	ENST00000372172.4	37	c.2128G>T	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	39	7.810838	0.98501	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.28	5.28	0.74379	.	0.046750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0867	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	710;320	.	ENSP00000361241:E320X	E	-	1	0	HECTD3	45242873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.316000	0.79007	2.735000	0.93741	0.549000	0.68633	GAG		0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		31	476	1	0	5.45727e-16	1	5.98072e-16	31	476					A	45470286	C	A	45470286	4	1	79	1	0	0	0	0	0	1	0	0	7071	864	30	3	481	3	HECTD3	1	45470286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129891	45470286	203780335	553	10870											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacggagctccatgtagCgggcgatggtgaacagctgt	15	10	0	1	rs375662782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		23405	0.0		0.0	False		,,,				2504	0.0					ENST00000359600.5																			1	Substitution - Missense(1)	p.R1005H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3013-3015)cGc>cAc		zinc finger, SWIM-type containing 5		C	HIS/ARG	1,4237		0,1,2118	75	75	75		3014	4.7	1	1		75	0,8476		0,0,4238	no	missense	ZSWIM5	NM_020883.1	29	0,1,6356	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	1005/1186	45484670	1,12713	2119	4238	6357	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484670C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3014G>A	1.37:g.45484670C>T	ENSP00000352614:p.Arg1005His		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.R1005H	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	3219	-	Acute lymphoblastic leukemia(166;0.155)		1005					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.3014G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	ZSWIM5	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC		0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		98	313	0	0	0	1	0	98	313					T	45484670	C	T	45484670	3	4	79	1	0	0	0	0	1	0	0	0	18297	768	27	1	547	1	ZSWIM5	1	45484670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14384	45484670	203765951	554	10871											
ZSWIM5	57643	broad.mit.edu	37	chr1	45504624	45504624	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgacatctccagataGccatcatcattcaggcggca	8	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	626						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1876-1878)ggC>ggA		zinc finger, SWIM-type containing 5							51	52	52					1																	45504624		1988	4174	6162	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45504624G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1878C>A	1.37:g.45504624G>T							p.G626G	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			8	2083	-	Acute lymphoblastic leukemia(166;0.155)		626					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.1878C>A	CCDS41319.1																																																																																				0.552	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		18	209	1	0	1.02788e-11	1	1.09837e-11	18	209					T	45504624	G	T	45504624	2	4	79	1	0	0	0	0	0	0	0	1	18297	958	34	3		3	ZSWIM5	1	45504624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19954	45504624	203745997	555	10872											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatagaatctcatctgCcagtttctgtgcagtaggaa	12	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	303						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(907-909)Gca>Aca		zinc finger, SWIM-type containing 5							144	135	138					1																	45553598		1855	4097	5952	SO:0001583	missense	57643						zinc ion binding	g.chr1:45553598C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.907G>A	1.37:g.45553598C>T	ENSP00000352614:p.Ala303Thr						p.A303T	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			2	1112	-	Acute lymphoblastic leukemia(166;0.155)		303					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.907G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209779	0.95069	.	.	ENSG00000162415	ENST00000359600	T	0.21361	2.01	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54944	-0.8217	10	0.52906	T	0.07	-8.6546	18.0844	0.89453	0.0:1.0:0.0:0.0	.	303	Q9P217	ZSWM5_HUMAN	T	303	ENSP00000352614:A303T	ENSP00000352614:A303T	A	-	1	0	ZSWIM5	45326185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.563000	0.77884	GCA		0.378	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		67	577	0	0	0	1	0	67	577					T	45553598	C	T	45553598	3	4	79	1	0	0	0	0	1	0	0	0	18297	739	26	2	2702	2	ZSWIM5	1	45553598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48974	45553598	203697023	556	10873											
TOE1	114034	broad.mit.edu	37	chr1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgagtgggcttggggacaGgaagagtttgctgaaccagt	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000488731.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	73						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(217-219)aGg>aTg		target of EGR1, member 1 (nuclear)							83	84	83					1																	45806997		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45806997G>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.218G>T	1.37:g.45806997G>T	ENSP00000361162:p.Arg73Met					TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|TOE1_ENST00000495703.1_3'UTR	p.R73M	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			3	801	+	Acute lymphoblastic leukemia(166;0.155)		73					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.218G>T	CCDS521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070978|5.070978	0.93950|0.93950	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000539779|ENST00000372090	T|T	0.30448|0.24723	1.53|1.84	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ribonuclease H-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.81682|0.81682	2.555|2.555	0.38079|0.38079	D|D	0.936615|0.936615	P|D;D	0.50819|0.89917	0.939|1.0;1.0	P|D;D	0.57548|0.97110	0.823|1.0;0.998	T|T	0.62338|0.62338	-0.6875|-0.6875	9|10	0.87932|0.72032	D|D	0|0.01	-20.7764|-20.7764	19.5968|19.5968	0.95544|0.95544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|79;73	B4DEM6|B4DP23;Q96GM8	.|.;TOE1_HUMAN	H|M	25|73	ENSP00000438900:Q25H|ENSP00000361162:R73M	ENSP00000438900:Q25H|ENSP00000361162:R73M	Q|R	+|+	3|2	2|0	TOE1|TOE1	45579584|45579584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.669000|8.669000	0.91163|0.91163	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.557	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		61	281	1	0	6.75472e-32	1	7.9656e-32	61	281					T	45806997	G	T	45806997	3	4	79	1	0	0	0	0	1	0	0	0	16401	1000	35	3	228	3	TOE1	1	45806997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253399	45806997	203443624	557	10874											
TESK2	10420	broad.mit.edu	37	chr1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtacgtgggggcttaCgggaaaagatatctgactgg	14	7	2	2	rs373750301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	374					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1120-1122)cGt>cAt		testis-specific kinase 2		C	HIS/ARG	8,3988		0,8,1990	54	55	55		1121	-4.9	0.1	1		55	0,8294		0,0,4147	yes	missense	TESK2	NM_007170.2	29	0,8,6137	TT,TC,CC		0.0,0.2002,0.0651	benign	374/572	45811107	8,12282	1998	4147	6145	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811107C>T	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1121G>A	1.37:g.45811107C>T	ENSP00000361158:p.Arg374His					TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H	p.R374H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			11	1521	-	Acute lymphoblastic leukemia(166;0.155)		374					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1121G>A	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188162	0.09547	0.002002	0.0	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76316	-0.91;-0.75;-0.91;-1.01	5.96	-4.89	0.03103	.	0.861689	0.10499	N	0.667433	T	0.64549	0.2608	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.16603	0.018;0.005	B;B	0.11329	0.006;0.002	T	0.46707	-0.9172	10	0.30854	T	0.27	1.9518	14.1925	0.65646	0.0:0.443:0.0:0.557	.	345;374	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	345;374;358;345;291	ENSP00000361156:R345H;ENSP00000361158:R374H;ENSP00000343940:R345H;ENSP00000441746:R291H	ENSP00000343940:R345H	R	-	2	0	TESK2	45583694	0.999000	0.42202	0.070000	0.20053	0.149000	0.21700	0.757000	0.26433	-0.828000	0.04273	-0.136000	0.14681	CGT		0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		26	273	0	0	0	1	0	26	273					T	45811107	C	T	45811107	3	4	79	1	0	0	0	0	1	0	0	0	15820	536	19	1	598	1	TESK2	1	45811107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4110	45811107	203439514	558	10875											
PRDX1	5052	broad.mit.edu	37	chr1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttttggacatcaggCttgatggtatcactgccagg	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	185					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(553-555)aaG>aaT		peroxiredoxin 1							199	205	203					1																	45977046		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45977046C>A	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.555G>T	1.37:g.45977046C>A	ENSP00000262746:p.Lys185Asn					PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			6	894	-	Acute lymphoblastic leukemia(166;0.155)		185					B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.555G>T	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006155	0.74932	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.34072	1.38;1.38;1.38	5.04	3.15	0.36227	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.120922	0.56097	D	0.000025	T	0.43166	0.1235	M	0.84433	2.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.22601	0.04	T	0.49844	-0.8896	10	0.62326	D	0.03	-6.1472	11.6022	0.51010	0.0:0.8526:0.0:0.1474	.	185	Q06830	PRDX1_HUMAN	N	185;185;83	ENSP00000262746:K185N;ENSP00000361152:K185N;ENSP00000361150:K83N	ENSP00000262746:K185N	K	-	3	2	PRDX1	45749633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.067000	0.30616	1.131000	0.42111	-0.379000	0.06801	AAG		0.498	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		210	983	1	0	1.51328e-59	1	1.9009e-59	210	983					A	45977046	C	A	45977046	3	1	79	1	0	0	0	0	1	0	0	0	12511	796	28	3	48	3	PRDX1	1	45977046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165939	45977046	203273575	559	10876											
NASP	4678	broad.mit.edu	37	chr1	46083795	46083795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggctggagctacagtTgaaagcactgcatgttaaga	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000372052.4_Silent_p.V417V|CCDC17_ENST00000464739.1_5'Flank|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	783					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(2347-2349)gtT>gtC		nuclear autoantigenic sperm protein (histone-binding)							40	38	38					1																	46083795		2203	4299	6502	SO:0001819	synonymous_variant	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46083795T>C	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2349T>C	1.37:g.46083795T>C						NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Silent_p.V417V	p.V783V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			15	2436	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		783					A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	c.2349T>C	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.621|9.621	1.133752|1.133752	0.21123|0.21123	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000534450	.|.	.|.	.|.	5.27|5.27	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.54013|.	0.1832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48007|.	-0.9072|.	4|.	.|.	.|.	.|.	-2.7206|-2.7206	5.8944|5.8944	0.18931|0.18931	0.1872:0.0834:0.0:0.7294|0.1872:0.0834:0.0:0.7294	.|.	.|.	.|.	.|.	S|R	283|170	.|.	.|.	L|X	+|+	2|1	0|0	NASP|NASP	45856382|45856382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.149000|1.149000	0.31626|0.31626	0.954000|0.954000	0.37851|0.37851	0.460000|0.460000	0.39030|0.39030	TTG|TGA		0.483	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		10	38	0	0	0	1	0	10	38					C	46083795	T	C	46083795	2	2	79	1	0	0	0	0	0	0	0	1	10213	1799	63	4		4	NASP	1	46083795	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106749	46083795	203166826	560	10877											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		15	323						15	323	---	---	---	---	-	46184898	AC	-	46184897	7	5	79	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-7651-01A-11D-2154-08	101102	46184897	203065724	561	10878											
IPP	3652	broad.mit.edu	37	chr1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggtaataaagggaatcGaattgggtctagcacttcca	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R227*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353																																						ENST00000396478.3																			1	Substitution - Nonsense(1)	p.R227*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(679-681)Cga>Tga		intracisternal A particle-promoted polypeptide							170	168	168					1																	46206618		2203	4300	6503	SO:0001587	stop_gained	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206618G>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.679C>T	1.37:g.46206618G>A	ENSP00000379739:p.Arg227*						p.R227*	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	781	-	Acute lymphoblastic leukemia(166;0.155)		227					A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	37	c.679C>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	IPP	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA		0.353	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		65	311	0	0	0	1	0	65	311					A	46206618	G	A	46206618	4	1	79	1	0	0	0	0	0	1	0	0	7830	1066	37	1	1205	1	IPP	1	46206618	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21721	46206618	203044003	562	10879											
MAST2	23139	broad.mit.edu	37	chr1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgcatggtgatggagTacgttgaaggtactgaggca	15	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1771-1773)Tac>Cac		microtubule associated serine/threonine kinase 2							78	73	75					1																	46489643		2202	4300	6502	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46489643T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1771T>C	1.37:g.46489643T>C	ENSP00000354671:p.Tyr591His					MAST2_ENST00000372008.1_Missense_Mutation_p.Y476H|MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	p.Y591H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			15	2054	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		591			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1771T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865492	0.91511	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.32753	1.44;1.44;1.44	5.48	5.48	0.80851	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	0.59004	0.2162	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.991;0.996;0.999;0.998	T	0.64791	-0.6324	10	0.87932	D	0	-11.6789	15.8795	0.79193	0.0:0.0:0.0:1.0	.	265;521;265;521;591	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	591;521;265;476	ENSP00000354671:Y591H;ENSP00000361079:Y521H;ENSP00000361078:Y476H	ENSP00000354671:Y591H	Y	+	1	0	MAST2	46262230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.221000	0.72209	0.454000	0.30748	TAC		0.522	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		38	193	0	0	0	1	0	38	193					C	46489643	T	C	46489643	3	2	79	1	0	0	0	0	1	0	0	0	9366	1638	57	4	1829	4	MAST2	1	46489643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	283025	46489643	202760978	563	10880											
MAST2	23139	broad.mit.edu	37	chr1	46497062	46497062	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcttacttgggcctacaGctatggagacccgaggccgt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.e24-1		microtubule associated serine/threonine kinase 2							34	39	37					1																	46497062		2045	4178	6223	SO:0001630	splice_region_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497062G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2993-1G>T	1.37:g.46497062G>T						MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Splice_Site		NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			24	3275	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)								Splice_Site	SNP	ENST00000361297.2	37		CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977123	0.53720	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0003	0.80288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST2	46269649	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.626000	0.88956	0.655000	0.94253	.		0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	Intron	63	169	1	0	8.81991e-31	1	1.03612e-30	63	169					T	46497062	G	T	46497062	5	4	79	1	0	0	0	0	0	0	1	0	9366	985	34	3	3086	3	MAST2	1	46497062	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7419	46497062	202753559	564	10881											
MAST2	23139	broad.mit.edu	37	chr1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaagaagccattcGtgaggtggactcctcagagg	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGCCATTCGTGAGGTGGAC	0.647																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(4495-4497)cGt>cAt		microtubule associated serine/threonine kinase 2							31	35	34					1																	46500837		2119	4237	6356	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500837G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4496G>A	1.37:g.46500837G>A	ENSP00000354671:p.Arg1499His					MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	p.R1499H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	4779	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1499						Missense_Mutation	SNP	ENST00000361297.2	37	c.4496G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.029744	0.35797	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.66099	-0.12;-0.19	4.32	4.32	0.51571	.	0.209202	0.37715	N	0.001979	T	0.49115	0.1538	L	0.29908	0.895	0.27728	N	0.944905	B;B	0.23490	0.086;0.086	B;B	0.12837	0.008;0.007	T	0.46898	-0.9158	10	0.41790	T	0.15	-4.8552	13.9857	0.64334	0.0:0.1524:0.8476:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1499;1309;186	ENSP00000354671:R1499H;ENSP00000361079:R1309H	ENSP00000354671:R1499H	R	+	2	0	MAST2	46273424	0.997000	0.39634	0.988000	0.46212	0.725000	0.41563	2.700000	0.47085	2.417000	0.82017	0.454000	0.30748	CGT		0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		8	214	0	0	0	1	0	8	214					A	46500837	G	A	46500837	3	1	79	1	0	0	0	0	1	0	0	0	9366	1145	40	1	4610	1	MAST2	1	46500837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3775	46500837	202749784	565	10882											
PIK3R3	8503	broad.mit.edu	37	chr1	46509480	46509480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtacaggttgtagggCtctgcaaagccatagccccg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000372006.1_Silent_p.E417E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Silent_p.E358E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	417	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GGTTGTAGGGCTCTGCAAAGC	0.527																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(1249-1251)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							131	111	118					1																	46509480		2203	4300	6503	SO:0001819	synonymous_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46509480C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1251G>A	1.37:g.46509480C>T						PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000372006.1_Silent_p.E417E	p.E417E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			10	1940	-	Acute lymphoblastic leukemia(166;0.155)		417			SH2 2.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	c.1251G>A	CCDS529.1																																																																																				0.527	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		30	139	0	0	0	1	0	30	139					T	46509480	C	T	46509480	2	4	79	1	0	0	0	0	0	0	0	1	11962	796	28	2		2	PIK3R3	1	46509480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8643	46509480	202741141	566	10883											
PIK3R3	8503	broad.mit.edu	37	chr1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattgtttcattaaaagcttCtattgcagtcctcttcatct	4	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	217					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTAAAAGCTTCTATTGCAGTC	0.333																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(649-651)Gaa>Aaa		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							134	127	129					1																	46527716		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46527716C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.649G>A	1.37:g.46527716C>T	ENSP00000262741:p.Glu217Lys					PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K	p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			6	1338	-	Acute lymphoblastic leukemia(166;0.155)		217					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.649G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110001	0.94292	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;D;D;T;D	0.86627	-1.4;-1.4;-1.4;-1.59;-2.15;-1.37;-1.59	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.53619	0.803;0.961;0.897;0.507	P;P;P;B	0.54100	0.612;0.742;0.686;0.296	D	0.93558	0.6892	10	0.87932	D	0	.	15.1844	0.72989	0.0:0.9324:0.0:0.0676	.	263;250;217;217	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	217;217;217;217;181;263;217	ENSP00000361075:E217K;ENSP00000262741:E217K;ENSP00000412546:E217K;ENSP00000346188:E217K;ENSP00000342484:E181K;ENSP00000439913:E263K;ENSP00000391431:E217K	ENSP00000262741:E217K	E	-	1	0	PIK3R3	46300303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	1.481000	0.48307	0.563000	0.77884	GAA		0.333	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		88	314	0	0	0	1	0	88	314					T	46527716	C	T	46527716	3	4	79	1	0	0	0	0	1	0	0	0	11962	922	32	2	756	2	PIK3R3	1	46527716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18236	46527716	202722905	567	10884											
POMGNT1	55624	broad.mit.edu	37	chr1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatacctgagcagcctgTgaacttccacttcataagct	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371984.3	-	19	1794	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H546R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	546					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1636-1638)cAc>cGc		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							186	194	191					1																	46656157		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46656157T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1637A>G	1.37:g.46656157T>C	ENSP00000361052:p.His546Arg					POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R	p.H546R	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			19	2287	-	Acute lymphoblastic leukemia(166;0.155)		546					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.1637A>G	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920763	0.33908	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.85013	-0.29;-1.93;-0.29;-1.93	5.53	4.3	0.51218	.	0.104769	0.64402	D	0.000003	T	0.70833	0.3269	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.003;0.002	B;B;B;B	0.15870	0.011;0.009;0.011;0.014	T	0.65434	-0.6169	10	0.15066	T	0.55	-21.8027	12.0904	0.53722	0.1376:0.0:0.0:0.8624	.	524;546;403;546	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	R	546;546;524;546	ENSP00000361052:H546R;ENSP00000361060:H546R;ENSP00000443767:H524R;ENSP00000361054:H546R	ENSP00000361052:H546R	H	-	2	0	POMGNT1	46428744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.170000	0.50816	2.124000	0.65301	0.459000	0.35465	CAC		0.527	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		131	1275	0	0	0	1	0	131	1275					C	46656157	T	C	46656157	3	2	79	1	0	0	0	0	1	0	0	0	12285	1696	59	4	361	4	POMGNT1	1	46656157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128441	46656157	202594464	568	10885											
POMGNT1	55624	broad.mit.edu	37	chr1	46657980	46657980	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctaccctgacagttacCttttccggtgtaggccactt	7	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371984.3	-	16	1570	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Splice_Site_p.K471N	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	471					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e16+1		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							91	87	88					1																	46657980		2203	4300	6503	SO:0001630	splice_region_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46657980C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1413+1G>T	1.37:g.46657980C>A						POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449_splice|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Splice_Site_p.K471_splice|POMGNT1_ENST00000371986.3_Splice_Site_p.K471_splice	p.K471_splice	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			16	2063	-	Acute lymphoblastic leukemia(166;0.155)		471					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	ENST00000371984.3	37	c.1413_splice	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015422	0.75161	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.33654	1.43;1.4;1.43;1.4	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.49350	1.555	0.80722	D	1	D;D;D;D;P;D	0.54397	0.958;0.966;0.966;0.966;0.829;0.966	P;P;P;P;P;P	0.53313	0.547;0.723;0.676;0.676;0.583;0.676	T	0.15435	-1.0437	9	.	.	.	-24.6181	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	449;449;449;471;328;471	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	N	471;471;449;471	ENSP00000361052:K471N;ENSP00000361060:K471N;ENSP00000443767:K449N;ENSP00000361054:K471N	.	K	-	3	2	POMGNT1	46430567	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.655000	0.61476	2.843000	0.97960	0.585000	0.79938	AAG		0.572	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	Missense_Mutation	40	316	1	0	2.95478e-19	1	3.29235e-19	40	316					A	46657980	C	A	46657980	5	1	79	1	0	0	0	0	0	0	1	0	12285	695	24	3	597	3	POMGNT1	1	46657980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1823	46657980	202592641	569	10886											
RAD54L	8438	broad.mit.edu	37	chr1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaacctgaaggcaggTcctgtgatgatgaagactgg	14	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	19					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(55-57)Tcc>Gcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							66	69	68					1																	46714235		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46714235T>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.55T>G	1.37:g.46714235T>G	ENSP00000361043:p.Ser19Ala					RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	2	729	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	19					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.55T>G	CCDS532.1	.	.	.	.	.	.	.	.	.	.	T	4.225	0.040707	0.08196	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	-3.48	0.04739	.	1.052970	0.07322	N	0.877717	T	0.71307	0.3324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60021	-0.7344	10	0.08179	T	0.78	1.6501	6.677	0.23100	0.0:0.1292:0.3674:0.5034	.	19	Q92698	RAD54_HUMAN	A	19	ENSP00000396113:S19A;ENSP00000361043:S19A	ENSP00000361043:S19A	S	+	1	0	RAD54L	46486822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.654000	0.05354	-0.283000	0.09115	0.533000	0.62120	TCC		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		19	178	0	0	0	1	0	19	178					G	46714235	T	G	46714235	3	3	79	1	0	0	0	0	1	0	0	0	13043	1667	58	4	61	4	RAD54L	1	46714235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56255	46714235	202536386	570	10887											
RAD54L	8438	broad.mit.edu	37	chr1	46726956	46726956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcatgaaccagcgtggaGccagggtgtcttctcccatc	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46726956G>T	ENST00000371975.4	+	8	1464	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.A264S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCGTGGAGCCAGGGTGTC	0.408								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(790-792)Gcc>Tcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							120	106	111					1																	46726956		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726956G>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.790G>T	1.37:g.46726956G>T	ENSP00000361043:p.Ala264Ser					RAD54L_ENST00000442598.1_Missense_Mutation_p.A264S	p.A264S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	8	1464	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	264			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.790G>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126924	0.37533	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92858	-3.12;-3.12	5.71	4.74	0.60224	DEAD-like helicase (2);SNF2-related (1);	0.384294	0.28398	N	0.015500	T	0.79112	0.4391	N	0.02842	-0.48	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.73228	-0.4049	10	0.20046	T	0.44	-9.4598	10.6479	0.45632	0.0754:0.2231:0.7015:0.0	.	84;264	G3V1N0;Q92698	.;RAD54_HUMAN	S	264;264;84	ENSP00000396113:A264S;ENSP00000361043:A264S	ENSP00000361043:A264S	A	+	1	0	RAD54L	46499543	0.804000	0.28969	1.000000	0.80357	0.756000	0.42949	0.045000	0.14013	2.873000	0.98535	0.561000	0.74099	GCC		0.408	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		6	281	1	0	1.26484e-09	1	1.33308e-09	6	281					T	46726956	G	T	46726956	3	4	79	1	0	0	0	0	1	0	0	0	13043	971	34	3	820	3	RAD54L	1	46726956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12721	46726956	202523665	571	10888											
RAD54L	8438	broad.mit.edu	37	chr1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggacacaggctcaagaactCtgagaatcagacttaccaag	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	304	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(910-912)tCt>tAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							97	91	93					1																	46733150		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46733150C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.911C>A	1.37:g.46733150C>A	ENSP00000361043:p.Ser304Tyr					RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y	p.S304Y	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	9	1585	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	304			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.911C>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981784	0.93044	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93604	-3.25;-3.25	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.054494	0.85682	D	0.000000	D	0.95313	0.8479	M	0.74389	2.26	0.80722	D	1	P;P	0.47841	0.858;0.901	B;P	0.51701	0.25;0.677	D	0.95438	0.8523	10	0.59425	D	0.04	-13.6725	19.0329	0.92965	0.0:1.0:0.0:0.0	.	124;304	G3V1N0;Q92698	.;RAD54_HUMAN	Y	304;304;124	ENSP00000396113:S304Y;ENSP00000361043:S304Y	ENSP00000361043:S304Y	S	+	2	0	RAD54L	46505737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.486000	0.83907	0.561000	0.74099	TCT		0.502	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		81	277	1	0	7.63117e-38	1	9.17446e-38	81	277					A	46733150	C	A	46733150	3	1	79	1	0	0	0	0	1	0	0	0	13043	913	32	3	945	3	RAD54L	1	46733150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6194	46733150	202517471	572	10889											
RAD54L	8438	broad.mit.edu	37	chr1	46739361	46739361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagtgacaaagtagtgCtggtgtcgaattacacccag	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	518	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1552-1554)Ctg>Ttg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							71	75	74					1																	46739361		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739361C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1552C>T	1.37:g.46739361C>T						RAD54L_ENST00000442598.1_Silent_p.L518L|RAD54L_ENST00000488942.1_3'UTR	p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2226	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	518			Helicase C-terminal.		Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.1552C>T	CCDS532.1																																																																																				0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		16	96	0	0	0	1	0	16	96					T	46739361	C	T	46739361	2	4	79	1	0	0	0	0	0	0	0	1	13043	796	28	2		2	RAD54L	1	46739361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6211	46739361	202511260	573	10890											
RAD54L	8438	broad.mit.edu	37	chr1	46743903	46743903	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctgcctccactgccatCaccttcgtcttccaccagcg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Silent_p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	731					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(2191-2193)atC>atT	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							35	34	35					1																	46743903		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46743903C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2193C>T	1.37:g.46743903C>T						RAD54L_ENST00000442598.1_Silent_p.I731I|RAD54L_ENST00000488942.1_3'UTR	p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	18	2867	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	731					Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.2193C>T	CCDS532.1																																																																																				0.587	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		28	106	0	0	0	1	0	28	106					T	46743903	C	T	46743903	2	4	79	1	0	0	0	0	0	0	0	1	13043	816	29	2		2	RAD54L	1	46743903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4542	46743903	202506718	574	10891											
NSUN4	387338	broad.mit.edu	37	chr1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctttctggtttcagggCtggactccttgccaccaaac	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	294					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(880-882)gCt>gAt		NOP2/Sun domain family, member 4							131	112	119					1																	46827244		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827244C>A	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.881C>A	1.37:g.46827244C>A	ENSP00000419740:p.Ala294Asp					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	p.A294D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1531	+	Acute lymphoblastic leukemia(166;0.155)		294					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.881C>A	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304266	0.81136	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.27402	1.67;1.67;1.67	5.43	5.43	0.79202	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.84082	2.675	0.80722	D	1	D;D	0.65815	0.995;0.985	D;P	0.63877	0.919;0.889	T	0.61821	-0.6984	10	0.62326	D	0.03	-13.8516	17.5969	0.88014	0.0:1.0:0.0:0.0	.	161;294	B3KUM0;Q96CB9	.;NSUN4_HUMAN	D	294;245;245	ENSP00000419740:A294D;ENSP00000438912:A245D;ENSP00000437758:A245D	ENSP00000419740:A294D	A	+	2	0	NSUN4	46599831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.824000	0.97209	0.655000	0.94253	GCT		0.493	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		36	301	1	0	6.53348e-20	1	7.30415e-20	36	301					A	46827244	C	A	46827244	3	1	79	1	0	0	0	0	1	0	0	0	10722	797	28	3	903	3	NSUN4	1	46827244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83341	46827244	202423377	575	10892											
NSUN4	387338	broad.mit.edu	37	chr1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctggccaatcaatacaGcatccaggtacaggtggaag	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	333					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(997-999)aGc>aTc		NOP2/Sun domain family, member 4							304	280	288					1																	46827361		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827361G>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.998G>T	1.37:g.46827361G>T	ENSP00000419740:p.Ser333Ile					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	p.S333I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1648	+	Acute lymphoblastic leukemia(166;0.155)		333					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.998G>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596087	0.46318	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14893	2.47;2.48;2.48	5.43	0.566	0.17317	.	0.254757	0.47455	D	0.000236	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	P;B	0.44281	0.831;0.004	P;B	0.48552	0.581;0.044	T	0.07558	-1.0766	10	0.49607	T	0.09	-2.0149	10.326	0.43793	0.4737:0.0:0.5263:0.0	.	200;333	B3KUM0;Q96CB9	.;NSUN4_HUMAN	I	333;284;284	ENSP00000419740:S333I;ENSP00000438912:S284I;ENSP00000437758:S284I	ENSP00000419740:S333I	S	+	2	0	NSUN4	46599948	0.610000	0.26983	0.991000	0.47740	0.495000	0.33615	0.270000	0.18607	0.239000	0.21243	0.655000	0.94253	AGC		0.478	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		118	465	1	0	2.32265e-44	1	2.8419e-44	118	465					T	46827361	G	T	46827361	3	4	79	1	0	0	0	0	1	0	0	0	10722	971	34	3	1020	3	NSUN4	1	46827361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	46827361	202423260	576	10893											
NSUN4	387338	broad.mit.edu	37	chr1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaacctcatggccaattTtggccccatgtacttctgca	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	372					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(1114-1116)tTt>tCt		NOP2/Sun domain family, member 4							141	132	135					1																	46827478		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827478T>C	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.1115T>C	1.37:g.46827478T>C	ENSP00000419740:p.Phe372Ser					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	p.F372S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1765	+	Acute lymphoblastic leukemia(166;0.155)		372					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.1115T>C	CCDS534.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805739	0.70682	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09073	3.02;3.02;3.02	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.889	T	0.02464	-1.1155	10	0.51188	T	0.08	-16.6586	15.6414	0.77006	0.0:0.0:0.0:1.0	.	239;372	B3KUM0;Q96CB9	.;NSUN4_HUMAN	S	372;323;323	ENSP00000419740:F372S;ENSP00000438912:F323S;ENSP00000437758:F323S	ENSP00000419740:F372S	F	+	2	0	NSUN4	46600065	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.075000	0.71261	2.279000	0.76181	0.533000	0.62120	TTT		0.453	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		44	193	0	0	0	1	0	44	193					C	46827478	T	C	46827478	3	2	79	1	0	0	0	0	1	0	0	0	10722	1841	64	4	1137	4	NSUN4	1	46827478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	46827478	202423143	577	10894											
DMBX1	127343	broad.mit.edu	37	chr1	46976890	46976890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctgaggaccccaAagctgagaagagccctgggg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	ENST00000360032.3	+	3	631	c.617A>G	c.(616-618)aAa>aGa	p.K206R	DMBX1_ENST00000371956.4_Missense_Mutation_p.K211R	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGGACCCCAAAGCTGAGAAG	0.662																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(631-633)aAa>aGa		diencephalon/mesencephalon homeobox 1							12	14	13					1																	46976890		2173	4251	6424	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976890A>G	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.617A>G	1.37:g.46976890A>G	ENSP00000353132:p.Lys206Arg					DMBX1_ENST00000360032.3_Missense_Mutation_p.K206R	p.K211R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	647	+	Acute lymphoblastic leukemia(166;0.155)		211						Missense_Mutation	SNP	ENST00000360032.3	37	c.632A>G	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117722	0.37339	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93712	-3.19;-3.27	4.84	3.72	0.42706	.	0.138526	0.64402	D	0.000006	D	0.86719	0.6000	L	0.31926	0.97	0.51012	D	0.999908	B;B	0.21452	0.034;0.056	B;B	0.23275	0.02;0.045	T	0.79992	-0.1569	10	0.13853	T	0.58	.	9.1239	0.36803	0.9133:0.0:0.0867:0.0	.	211;206	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	R	211;206	ENSP00000361024:K211R;ENSP00000353132:K206R	ENSP00000353132:K206R	K	+	2	0	DMBX1	46749477	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.175000	0.77632	1.827000	0.53221	0.482000	0.46254	AAA		0.662	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			39	101	0	0	0	1	0	39	101					G	46976890	A	G	46976890	3	3	79	1	0	0	0	0	1	0	0	0	4594	14	1	4	642	4	DMBX1	1	46976890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149412	46976890	202273731	578	10895											
KNCN	148930	broad.mit.edu	37	chr1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccagctgcaggccgcGgaagtctctgctgctgatgg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C|KNCN_ENST00000524908.1_5'Flank			A6PVL3	KNCN_HUMAN	kinocilin	11						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCCGCGGAAGTCTCTG	0.642																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(31-33)Cgc>Tgc		kinocilin							42	51	48					1																	47016857		2056	4192	6248	SO:0001583	missense	148930					integral to membrane		g.chr1:47016857G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.31C>T	1.37:g.47016857G>A	ENSP00000419705:p.Arg11Cys					MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C	p.R11C			A6PVL3	KNCN_HUMAN			1	342	-	Acute lymphoblastic leukemia(166;0.155)		11					A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	37	c.31C>T		.	.	.	.	.	.	.	.	.	.	G	11.79	1.745108	0.30955	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70282	-0.47	5.39	4.48	0.54585	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.37725	D	0.925069	B	0.13145	0.007	B	0.10450	0.005	T	0.63804	-0.6554	8	0.87932	D	0	-4.4966	10.1114	0.42565	0.0926:0.0:0.9074:0.0	.	11	A6PVL3-2	.	C	11	ENSP00000419705:R11C	ENSP00000379607:R11C	R	-	1	0	KNCN	46789444	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	3.772000	0.55325	1.278000	0.44430	-0.140000	0.14226	CGC		0.642	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		58	432	0	0	0	1	0	58	432					A	47016857	G	A	47016857	3	1	79	1	0	0	0	0	1	0	0	0	8455	1116	39	1	286	1	KNCN	1	47016857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39967	47016857	202233764	579	10896											
CYP4B1	1580	broad.mit.edu	37	chr1	47279186	47279186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagctcgggagggtaaGtcctttgacatcttctgcga	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000271153.4	+	5	564	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371919.4_Silent_p.K161K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	176					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGGAGGGTAAGTCCTTTGACA	0.567																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(526-528)aaG>aaA		cytochrome P450, family 4, subfamily B, polypeptide 1							125	118	121					1																	47279186		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279186G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.528G>A	1.37:g.47279186G>A						CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371919.4_Silent_p.K161K	p.K176K			P13584	CP4B1_HUMAN			5	564	+	Acute lymphoblastic leukemia(166;0.155)		176					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.528G>A	CCDS542.1																																																																																				0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		25	222	0	0	0	1	0	25	222					A	47279186	G	A	47279186	2	1	79	1	0	0	0	0	0	0	0	1	4196	1020	36	2		2	CYP4B1	1	47279186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262329	47279186	201971435	580	10897											
CYP4B1	1580	broad.mit.edu	37	chr1	47279222	47279222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatgtgggtcacatggcGctgaacacactcatgaagtg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000271153.4	+	5	600	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371919.4_Silent_p.A173A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTCACATGGCGCTGAACACAC	0.572																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(562-564)gcG>gcA		cytochrome P450, family 4, subfamily B, polypeptide 1							107	103	105					1																	47279222		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279222G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.564G>A	1.37:g.47279222G>A						CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371919.4_Silent_p.A173A	p.A188A			P13584	CP4B1_HUMAN			5	600	+	Acute lymphoblastic leukemia(166;0.155)		188					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.564G>A	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		54	233	0	0	0	1	0	54	233					A	47279222	G	A	47279222	2	1	79	1	0	0	0	0	0	0	0	1	4196	1074	38	1		1	CYP4B1	1	47279222	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36	47279222	201971399	581	10898											
CYP4X1	260293	broad.mit.edu	37	chr1	47495763	47495763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaggcatttttctgtatCtatgacccagactatgcaaa	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	93						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(277-279)atC>atT		cytochrome P450, family 4, subfamily X, polypeptide 1							114	120	118					1																	47495763		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47495763C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.279C>T	1.37:g.47495763C>T						CYP4X1_ENST00000538609.1_Silent_p.I92I	p.I93I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			2	529	+			93					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.279C>T	CCDS544.1																																																																																				0.433	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		56	450	0	0	0	1	0	56	450					T	47495763	C	T	47495763	2	4	79	1	0	0	0	0	0	0	0	1	4204	903	32	2		2	CYP4X1	1	47495763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216541	47495763	201754858	582	10899											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatcctcctctgcatgTctctgctgctgtttcaggta	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	23						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(67-69)Tct>Gct		cytochrome P450, family 4, subfamily Z, polypeptide 1							74	67	70					1																	47533229		2203	4298	6501	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533229T>G	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.67T>G	1.37:g.47533229T>G	ENSP00000334246:p.Ser23Ala						p.S23A	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	70	+			23					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.67T>G	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297443	0.01364	.	.	ENSG00000186160	ENST00000334194	T	0.68903	-0.36	3.29	-0.545	0.11843	.	0.321368	0.22204	U	0.063190	T	0.33469	0.0864	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25222	-1.0138	10	0.19147	T	0.46	.	8.8238	0.35043	0.0:0.0:0.3568:0.6432	.	23	Q86W10	CP4Z1_HUMAN	A	23	ENSP00000334246:S23A	ENSP00000334246:S23A	S	+	1	0	CYP4Z1	47305816	0.000000	0.05858	0.112000	0.21494	0.073000	0.16967	-0.537000	0.06128	0.036000	0.15547	0.378000	0.23410	TCT		0.557	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		24	208	0	0	0	1	0	24	208					G	47533229	T	G	47533229	3	3	79	1	0	0	0	0	1	0	0	0	4205	1667	58	4	69	4	CYP4Z1	1	47533229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37466	47533229	201717392	583	10900											
CYP4A22	284541	broad.mit.edu	37	chr1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctctacccaccggtgCcaggcattggaagagagctc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	387						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1159-1161)Cca>Tca		cytochrome P450, family 4, subfamily A, polypeptide 22							114	93	100					1																	47610579		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610579C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1159C>T	1.37:g.47610579C>T	ENSP00000360958:p.Pro387Ser					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S	p.P387S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			9	1190	+			387					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1159C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985172	0.53934	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73047	-0.63;-0.71;-0.71	1.51	1.51	0.23008	.	0.049915	0.85682	D	0.000000	T	0.78188	0.4244	M	0.78049	2.395	0.40862	D	0.983847	B;B	0.29671	0.236;0.254	P;B	0.48304	0.573;0.438	T	0.79249	-0.1881	10	0.87932	D	0	.	8.7264	0.34471	0.226:0.7739:0.0:0.0	.	289;387	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	289;387;387	ENSP00000360957:P289S;ENSP00000360958:P387S;ENSP00000294337:P387S	ENSP00000294337:P387S	P	+	1	0	CYP4A22	47383166	0.674000	0.27549	0.015000	0.15790	0.465000	0.32709	2.614000	0.46359	0.842000	0.35045	0.194000	0.17425	CCA		0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		57	166	0	0	0	1	0	57	166					T	47610579	C	T	47610579	3	4	79	1	0	0	0	0	1	0	0	0	4195	739	26	2	1193	2	CYP4A22	1	47610579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77350	47610579	201640042	584	10901											
TAL1	6886	broad.mit.edu	37	chr1	47685563	47685563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaggtcatctgggggCgcgccgccccctcccccacc	13	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000294339.3	-	4	1401	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.A277A|TAL1_ENST00000371884.2_Silent_p.A275A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																	ENST00000371883.3				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"TRD@, SIL"		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(829-831)gcG>gcA		T-cell acute lymphocytic leukemia 1							12	15	14					1																	47685563		2157	4259	6416	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685563C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.825G>A	1.37:g.47685563C>T						TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.A275A|TAL1_ENST00000371884.2_Silent_p.A275A	p.A277A			P17542	TAL1_HUMAN			4	1407	-			275					D3DQ24	Silent	SNP	ENST00000294339.3	37	c.831G>A	CCDS547.1																																																																																				0.701	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		42	134	0	0	0	1	0	42	134					T	47685563	C	T	47685563	2	4	79	1	0	0	0	0	0	0	0	1	15593	755	27	1		1	TAL1	1	47685563	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74984	47685563	201565058	585	10902											
STIL	6491	broad.mit.edu	37	chr1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actgcctagaattaagtgtgGagggtcttataggatactct	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	556					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTAAGTGTGGAGGGTCTTAT	0.408																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1666-1668)tCc>tAc		SCL/TAL1 interrupting locus							132	145	141					1																	47746463		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746463G>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1667C>A	1.37:g.47746463G>T	ENSP00000353544:p.Ser556Tyr					STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y	p.S556Y			Q15468	STIL_HUMAN			13	2030	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	556					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1667C>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642910	0.47153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.53423	1.98;1.98;1.99;1.97;1.98;0.62	5.1	4.18	0.49190	.	0.275883	0.35838	N	0.002956	T	0.52757	0.1754	L	0.32530	0.975	0.20196	N	0.999925	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.993;0.993	P;D;D;P;P	0.66497	0.804;0.944;0.912;0.804;0.804	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.4972	10.424	0.44367	0.1501:0.0:0.8499:0.0	.	556;509;556;556;556	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	556;556;556;556;556;509	ENSP00000353544:S556Y;ENSP00000337367:S556Y;ENSP00000360944:S556Y;ENSP00000379523:S556Y;ENSP00000243182:S556Y;ENSP00000411664:S509Y	ENSP00000243182:S556Y	S	-	2	0	STIL	47519050	0.997000	0.39634	0.536000	0.28039	0.760000	0.43138	3.054000	0.49908	2.383000	0.81215	0.655000	0.94253	TCC		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		166	545	1	0	4.35918e-57	1	5.4578e-57	166	545					T	47746463	G	T	47746463	3	4	79	1	0	0	0	0	1	0	0	0	15334	1174	41	3	2223	3	STIL	1	47746463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60900	47746463	201504158	586	10903											
STIL	6491	broad.mit.edu	37	chr1	47753293	47753293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggctttcagcgctcaGttcacaacggattggatttt	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	355					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGCGCTCAGTTCACAACGG	0.343																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1063-1065)Ctg>Ttg		SCL/TAL1 interrupting locus							66	64	65					1																	47753293		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47753293G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1063C>T	1.37:g.47753293G>A						STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L	p.L355L			Q15468	STIL_HUMAN			11	1426	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	355					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.1063C>T	CCDS548.1																																																																																				0.343	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		22	115	0	0	0	1	0	22	115					A	47753293	G	A	47753293	2	1	79	1	0	0	0	0	0	0	0	1	15334	1020	36	2		2	STIL	1	47753293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6830	47753293	201497328	587	10904											
STIL	6491	broad.mit.edu	37	chr1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagcccatacctgaggaCtatagatatgtgtaattcca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	272					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACCTGAGGACTATAGATATG	0.318																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(814-816)aGt>aTt		SCL/TAL1 interrupting locus							118	125	123					1																	47759187		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47759187C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.815G>T	1.37:g.47759187C>A	ENSP00000353544:p.Ser272Ile					STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I	p.S272I			Q15468	STIL_HUMAN			9	1178	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	272					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.815G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677186	0.88445	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	.	0.117689	0.85682	D	0.000000	T	0.71264	0.3319	M	0.76574	2.34	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.73177	-0.4065	10	0.87932	D	0	-17.9631	19.9662	0.97271	0.0:1.0:0.0:0.0	.	272;225;272;272;272	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	I	272;272;272;272;272;225	ENSP00000353544:S272I;ENSP00000337367:S272I;ENSP00000360944:S272I;ENSP00000379523:S272I;ENSP00000243182:S272I;ENSP00000411664:S225I	ENSP00000243182:S272I	S	-	2	0	STIL	47531774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.876000	0.39588	2.701000	0.92244	0.650000	0.86243	AGT		0.318	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		93	304	1	0	7.47877e-49	1	9.23912e-49	93	304					A	47759187	C	A	47759187	3	1	79	1	0	0	0	0	1	0	0	0	15334	565	20	3	3091	3	STIL	1	47759187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5894	47759187	201491434	588	10905											
STIL	6491	broad.mit.edu	37	chr1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaagtaaaaagcatgacGaattttttttattctgctta	5	6	1	1	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	76					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAGCATGACGAATTTTTTTT	0.413																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(226-228)tCg>tTg		SCL/TAL1 interrupting locus		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	120	125	123		227,227	3.1	0.4	1	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	STIL	NM_001048166.1,NM_003035.2	145,145	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	76/1289,76/1288	47767944	4,13002	2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47767944G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.227C>T	1.37:g.47767944G>A	ENSP00000353544:p.Ser76Leu					STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L	p.S76L			Q15468	STIL_HUMAN			5	590	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	76					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.227C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420075	0.01136	2.27E-4	3.49E-4	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.42	3.12	0.35913	.	0.418972	0.25723	N	0.028724	T	0.07908	0.0198	N	0.00289	-1.7	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33727	-0.9857	10	0.12103	T	0.63	0.1076	6.5954	0.22669	0.6468:0.0:0.3532:0.0	.	76;76;76;76;76	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	76;76;76;76;76;76;80	ENSP00000353544:S76L;ENSP00000337367:S76L;ENSP00000360944:S76L;ENSP00000379523:S76L;ENSP00000243182:S76L;ENSP00000411664:S76L;ENSP00000412019:S80L	ENSP00000243182:S76L	S	-	2	0	STIL	47540531	0.582000	0.26749	0.384000	0.26145	0.240000	0.25518	3.262000	0.51538	0.374000	0.24650	-0.391000	0.06502	TCG		0.413	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		11	242	0	0	0	1	0	11	242					A	47767944	G	A	47767944	3	1	79	1	0	0	0	0	1	0	0	0	15334	1059	37	1	3695	1	STIL	1	47767944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8757	47767944	201482677	589	10906											
FOXD2	2306	broad.mit.edu	37	chr1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcttcccctactaccgggaGaagttccccgcctggcagaa	10	16	0	2	rs201282916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627																																						ENST00000334793.5																			0				lung(4)	4						c.(496-498)gaG>gaT		forkhead box D2		G	ASP/GLU	0,4406		0,0,2203	50	63	59		498	4.2	1	1		59	2,8598	1.2+/-3.3	0,2,4298	no	missense	FOXD2	NM_004474.3	45	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	166/496	47904305	2,13004	2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904305G>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.498G>T	1.37:g.47904305G>T	ENSP00000335493:p.Glu166Asp						p.E166D	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2617	+			166					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.498G>T	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354318	0.61293	0.0	2.33E-4	ENSG00000186564	ENST00000334793	D	0.95588	-3.75	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	N	0.04245	-0.25	0.50632	D	0.999888	B	0.24963	0.115	B	0.44224	0.444	D	0.90273	0.4309	10	0.46703	T	0.11	.	15.2933	0.73882	0.0:0.0:1.0:0.0	.	166	O60548	FOXD2_HUMAN	D	166	ENSP00000335493:E166D	ENSP00000335493:E166D	E	+	3	2	FOXD2	47676892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	1.861000	0.53984	0.430000	0.28490	GAG		0.627	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		67	503	1	0	3.61411e-23	1	4.10475e-23	67	503					T	47904305	G	T	47904305	3	4	79	1	0	0	0	0	1	0	0	0	6022	933	33	3	500	3	FOXD2	1	47904305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136361	47904305	201346316	590	10907											
SLC5A9	200010	broad.mit.edu	37	chr1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccttggctgggtcttcGtccctgtgtacatcgcagca	12	13	1	0	rs368240645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000438567.2	+	4	428	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	SLC5A9_ENST00000236495.5_Missense_Mutation_p.V151I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	126					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18029	0.0		0.0	False		,,,				2504	0.001					ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(451-453)Gtc>Atc		solute carrier family 5 (sodium/sugar cotransporter), member 9							112	96	102					1																	48695003		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48695003G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.376G>A	1.37:g.48695003G>A	ENSP00000401730:p.Val126Ile					RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Missense_Mutation_p.V126I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I	p.V151I	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			5	501	+			126					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.451G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221494	0.58560	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.74	4.83	0.62350	.	0.118460	0.64402	N	0.000018	D	0.87924	0.6300	M	0.62266	1.93	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.924;0.971	P;P;P	0.49477	0.523;0.495;0.612	D	0.86947	0.2083	10	0.35671	T	0.21	.	13.9411	0.64054	0.0724:0.0:0.9276:0.0	.	147;126;151	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	147;126;151;119	ENSP00000431900:V147I;ENSP00000401730:V126I;ENSP00000236495:V151I;ENSP00000408881:V119I	ENSP00000236495:V151I	V	+	1	0	SLC5A9	48467590	0.971000	0.33674	0.982000	0.44146	0.972000	0.66771	1.612000	0.36889	1.581000	0.49865	0.655000	0.94253	GTC		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		27	253	0	0	0	1	0	27	253					A	48695003	G	A	48695003	3	1	79	1	0	0	0	0	1	0	0	0	14722	1145	40	1	469	1	SLC5A9	1	48695003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790698	48695003	200555618	591	10908											
SLC5A9	200010	broad.mit.edu	37	chr1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctctgcgggctcactGccatcgtcattgtcattgtc	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000438567.2	+	12	1676	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SLC5A9_ENST00000236495.5_Missense_Mutation_p.A567T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	542					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(1699-1701)Gcc>Acc		solute carrier family 5 (sodium/sugar cotransporter), member 9							267	230	242					1																	48705156		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48705156G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1624G>A	1.37:g.48705156G>A	ENSP00000401730:p.Ala542Thr					SLC5A9_ENST00000438567.2_Missense_Mutation_p.A542T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	p.A567T	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			13	1749	+			542					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1699G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886502	0.33348	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	3.4	0.38934	.	0.589185	0.19332	N	0.116873	T	0.65386	0.2686	N	0.20685	0.6	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.50508	-0.8820	10	0.22109	T	0.4	.	10.7877	0.46415	0.2142:0.0:0.7858:0.0	.	563;542;567	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	563;542;567	ENSP00000431900:A563T;ENSP00000401730:A542T;ENSP00000236495:A567T	ENSP00000236495:A567T	A	+	1	0	SLC5A9	48477743	0.001000	0.12720	0.762000	0.31397	0.942000	0.58702	0.943000	0.29030	1.458000	0.47871	0.650000	0.86243	GCC		0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		81	671	0	0	0	1	0	81	671					A	48705156	G	A	48705156	3	1	79	1	0	0	0	0	1	0	0	0	14722	1319	46	2	1749	2	SLC5A9	1	48705156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10153	48705156	200545465	592	10909											
AGBL4	84871	broad.mit.edu	37	chr1	49052677	49052677	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggactaaggatacaGgcttcttcagtgtagggcac	16	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	AGBL4_ENST00000334103.7_Splice_Site_p.A155A	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	422					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TAAGGATACAGGCTTCTTCAG	0.567																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.e11+1		ATP/GTP binding protein-like 4							35	38	37					1																	49052677		2015	4178	6193	SO:0001630	splice_region_variant	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49052677G>T	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1267+1C>A	1.37:g.49052677G>T						AGBL4_ENST00000334103.7_Splice_Site_p.A155_splice	p.A422_splice	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	11	1382	-			422					B3KT26|B4DG37	Splice_Site	SNP	ENST00000371839.1	37	c.1267_splice	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020974	0.35606	.	.	ENSG00000186094	ENST00000416121	.	.	.	5.77	3.91	0.45181	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	-4.1408	7.8083	0.29215	0.1422:0.0:0.7256:0.1322	.	.	.	.	H	268	.	.	P	-	2	0	AGBL4	48825264	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	0.334000	0.19787	0.796000	0.33947	0.448000	0.29417	CCT		0.567	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	Silent	4	55	1	0	0.00909568	1	0.00914726	4	55					T	49052677	G	T	49052677	5	4	79	1	0	0	0	0	0	0	1	0	377	1014	35	3	261	3	AGBL4	1	49052677	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347521	49052677	200197944	593	10910											
ELAVL4	1996	broad.mit.edu	37	chr1	50663102	50663102	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctccttctctttgcaggCtggacaatttgcttaatatg	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371823.4	+	6	960	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M|ELAVL4_ENST00000371824.1_Splice_Site_p.L246M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M|ELAVL4_ENST00000357083.4_Splice_Site_p.L263M	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	246					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.e6-1		ELAV like neuron-specific RNA binding protein 4							148	152	151					1																	50663102		2203	4300	6503	SO:0001630	splice_region_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50663102C>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.735-1C>A	1.37:g.50663102C>A						ELAVL4_ENST00000371821.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000371823.4_Splice_Site_p.L246_splice|ELAVL4_ENST00000371819.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000448907.2_Splice_Site_p.L249_splice|ELAVL4_ENST00000357083.4_Splice_Site_p.L263_splice|ELAVL4_ENST00000371827.1_Splice_Site_p.L246_splice	p.L246_splice			P26378	ELAV4_HUMAN			6	993	+			246					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Splice_Site	SNP	ENST00000371823.4	37	c.734_splice	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056865	0.76074	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09630	3.01;3.0;2.98;2.99;2.99;2.96;2.99	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	P;D;P;P;P;P;P	0.54397	0.748;0.966;0.824;0.836;0.905;0.837;0.748	B;P;P;B;P;P;B	0.55999	0.326;0.702;0.789;0.326;0.693;0.525;0.326	T	0.00053	-1.2186	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	251;251;246;246;263;246;249	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	M	249;246;263;246;246;251;251	ENSP00000399939:L249M;ENSP00000360892:L246M;ENSP00000349594:L263M;ENSP00000360889:L246M;ENSP00000360888:L246M;ENSP00000360886:L251M;ENSP00000360884:L251M	ENSP00000349594:L263M	L	+	1	2	ELAVL4	50435689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.941000	0.99782	0.655000	0.94253	CTG		0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	Missense_Mutation	49	444	1	0	6.31075e-24	1	7.19376e-24	49	444					A	50663102	C	A	50663102	5	1	79	1	0	0	0	0	0	0	1	0	5070	811	28	3	857	3	ELAVL4	1	50663102	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1610425	50663102	198587519	594	10911											
DMRTA2	63950	broad.mit.edu	37	chr1	50884924	50884924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtggttcagcacctgctCgatggcctgcaccacgtcgc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	ENST00000404795.3	-	3	1434	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	348	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						AGCACCTGCTCGATGGCCTGC	0.716																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(1042-1044)Gag>Aag		DMRT-like family A2							8	10	9					1																	50884924		1899	3900	5799	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884924C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1042G>A	1.37:g.50884924C>T	ENSP00000383909:p.Glu348Lys					DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1434	-			348			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.1042G>A	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504364	0.96371	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	D;D	0.84298	-1.83;-1.83	3.8	3.8	0.43715	DMRTA motif (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.89904	3.07	0.54753	D	0.999983	D	0.60575	0.988	P	0.57548	0.823	D	0.93896	0.7184	10	0.87932	D	0	-10.9529	14.946	0.71032	0.0:1.0:0.0:0.0	.	348	Q96SC8	DMTA2_HUMAN	K	348	ENSP00000383909:E348K;ENSP00000399370:E348K	ENSP00000383909:E348K	E	-	1	0	DMRTA2	50657511	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.004000	0.57068	2.107000	0.64212	0.462000	0.41574	GAG		0.716	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		18	98	0	0	0	1	0	18	98					T	50884924	C	T	50884924	3	4	79	1	0	0	0	0	1	0	0	0	4605	893	31	1	590	1	DMRTA2	1	50884924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221822	50884924	198365697	595	10912											
DMRTA2	63950	broad.mit.edu	37	chr1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgagctaggggcgaaccaGaaaaggactcgccatcgccg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	248	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(742-744)tCt>tAt		DMRT-like family A2							6	8	7					1																	50885223		1837	4020	5857	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885223G>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.743C>A	1.37:g.50885223G>T	ENSP00000383909:p.Ser248Tyr					DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1135	-			248			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.743C>A	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787807	0.31593	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.76	2.84	0.33178	.	0.678240	0.13285	N	0.399480	T	0.19287	0.0463	N	0.22421	0.69	0.30662	N	0.75429	P	0.46020	0.871	B	0.37304	0.246	T	0.09618	-1.0666	10	0.45353	T	0.12	-9.2124	4.3626	0.11210	0.3172:0.0:0.6828:0.0	.	248	Q96SC8	DMTA2_HUMAN	Y	248	ENSP00000383909:S248Y;ENSP00000399370:S248Y	ENSP00000383909:S248Y	S	-	2	0	DMRTA2	50657810	0.999000	0.42202	0.995000	0.50966	0.353000	0.29299	4.988000	0.63863	2.078000	0.62432	0.462000	0.41574	TCT		0.721	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		13	81	1	0	4.36969e-10	1	4.6211e-10	13	81					T	50885223	G	T	50885223	3	4	79	1	0	0	0	0	1	0	0	0	4605	942	33	3	889	3	DMRTA2	1	50885223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	50885223	198365398	596	10913											
DMRTA2	63950	broad.mit.edu	37	chr1	50885340	50885340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaccggcggcggcagcGggctgcccgggcggcctgcc	18	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	ENST00000404795.3	-	3	1018	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	209	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CGGCGGCAGCGGGCTGCCCGG	0.687																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(625-627)cCg>cTg		DMRT-like family A2							5	7	6					1																	50885340		1788	3996	5784	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885340G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.626C>T	1.37:g.50885340G>A	ENSP00000383909:p.Pro209Leu					DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1018	-			209			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.626C>T	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904742	0.52333	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.98	3.98	0.46160	.	0.845757	0.10504	N	0.667019	T	0.52581	0.1743	L	0.58810	1.83	0.53688	D	0.99997	D	0.71674	0.998	P	0.58520	0.84	T	0.47471	-0.9115	10	0.39692	T	0.17	-14.0179	15.3449	0.74327	0.0:0.0:1.0:0.0	.	209	Q96SC8	DMTA2_HUMAN	L	209	ENSP00000383909:P209L;ENSP00000399370:P209L	ENSP00000383909:P209L	P	-	2	0	DMRTA2	50657927	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.787000	0.62432	2.194000	0.70268	0.462000	0.41574	CCG		0.687	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		10	48	0	0	0	1	0	10	48					A	50885340	G	A	50885340	3	1	79	1	0	0	0	0	1	0	0	0	4605	1116	39	1	1006	1	DMRTA2	1	50885340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	50885340	198365281	597	10914											
FAF1	11124	broad.mit.edu	37	chr1	50941256	50941256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccgctccaagaactcGccactgggggtccggatccg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	583	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532																																						ENST00000396153.2																			0				breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1747-1749)ggC>ggT		Fas (TNFRSF6) associated factor 1							60	63	62					1																	50941256		2203	4300	6503	SO:0001819	synonymous_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50941256G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1749C>T	1.37:g.50941256G>A						FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	p.G583G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	18	2200	-			583			UBX.		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	c.1749C>T	CCDS554.1																																																																																				0.532	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		33	293	0	0	0	1	0	33	293					A	50941256	G	A	50941256	2	1	79	1	0	0	0	0	0	0	0	1	5390	1074	38	1		1	FAF1	1	50941256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55916	50941256	198309365	598	10915											
FAF1	11124	broad.mit.edu	37	chr1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccacaacactgccaaaGtgtctattgcacatagtgag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	431					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACTGCCAAAGTGTCTATTGC	0.353																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1291-1293)caC>caA		Fas (TNFRSF6) associated factor 1							63	62	62					1																	51005376		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51005376G>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1293C>A	1.37:g.51005376G>T	ENSP00000379457:p.His431Gln					FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q	p.H431Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	14	1744	-			431					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1293C>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332629	0.41297	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.9	-0.835	0.10775	UAS (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.47716	1.5	0.49582	D	0.999807	D;D	0.58970	0.984;0.984	P;P	0.51945	0.685;0.685	T	0.48703	-0.9012	9	0.11182	T	0.66	-33.0452	6.8217	0.23861	0.4533:0.0:0.4386:0.1081	.	189;431	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	431;431;189;271;279	.	ENSP00000360843:H431Q	H	-	3	2	FAF1	50777964	1.000000	0.71417	0.982000	0.44146	0.218000	0.24690	0.848000	0.27710	-0.417000	0.07461	-0.345000	0.07892	CAC		0.353	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		7	108	1	0	1.06961e-07	1	1.11297e-07	7	108					T	51005376	G	T	51005376	3	4	79	1	0	0	0	0	1	0	0	0	5390	1020	36	3	683	3	FAF1	1	51005376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64120	51005376	198245245	599	10916											
RNF11	26994	broad.mit.edu	37	chr1	51736946	51736946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcacgtgcccctcctgCatggagccagttgatgcagc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	139					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468																																						ENST00000242719.3																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	large_intestine(1)	1						c.(415-417)tgC>tgT		ring finger protein 11							149	122	131					1																	51736946		2203	4300	6503	SO:0001819	synonymous_variant	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51736946C>T	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"RING-type (C3HC4) zinc fingers"	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.417C>T	1.37:g.51736946C>T						RNF11_ENST00000494873.1_3'UTR	p.C139C	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN			3	903	+			139					A8KAI2|Q5T7R8	Silent	SNP	ENST00000242719.3	37	c.417C>T	CCDS556.1																																																																																				0.468	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372		48	292	0	0	0	1	0	48	292					T	51736946	C	T	51736946	2	4	79	1	0	0	0	0	0	0	0	1	13474	718	25	2		2	RNF11	1	51736946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	731570	51736946	197513675	600	10917											
EPS15	2060	broad.mit.edu	37	chr1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggttctttctccagtGcacagtataccaaaaacatg	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	195	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(583-585)gCa>gTa		epidermal growth factor receptor pathway substrate 15							165	159	161					1																	51913785		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51913785G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.584C>T	1.37:g.51913785G>A	ENSP00000360798:p.Ala195Val					EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			9	680	-			195			EF-hand 1.|EH 2.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.584C>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574835	0.96553	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26518	1.73;1.73	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006426	T	0.50582	0.1624	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25082	-1.0142	10	0.33141	T	0.24	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	195;195	B1AUU8;P42566	.;EPS15_HUMAN	V	195	ENSP00000360795:A195V;ENSP00000360798:A195V	ENSP00000360795:A195V	A	-	2	0	EPS15	51686373	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GCA		0.428	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		47	351	0	0	0	1	0	47	351					A	51913785	G	A	51913785	3	1	79	1	0	0	0	0	1	0	0	0	5210	1319	46	2	2272	2	EPS15	1	51913785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176839	51913785	197336836	601	10918											
EPS15	2060	broad.mit.edu	37	chr1	51937366	51937366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatctgaaacttacttgtTtgttcaggatacctttgcca	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51937366T>G	ENST00000371733.3	-	4	305	c.209A>C	c.(208-210)aAa>aCa	p.K70T	EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	70	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTACTTGTTTGTTCAGGAT	0.308			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(208-210)aAa>aCa		epidermal growth factor receptor pathway substrate 15							65	78	73					1																	51937366		2203	4296	6499	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51937366T>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.209A>C	1.37:g.51937366T>G	ENSP00000360798:p.Lys70Thr					EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			4	305	-			70			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.209A>C	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439416	0.83885	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28666	1.6;1.6	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.34386	N	0.004013	T	0.63070	0.2480	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71965	-0.4433	10	0.66056	D	0.02	.	13.9443	0.64075	0.0:0.0:0.0:1.0	.	70;70	B1AUU8;P42566	.;EPS15_HUMAN	T	70	ENSP00000360795:K70T;ENSP00000360798:K70T	ENSP00000360792:K70T	K	-	2	0	EPS15	51709954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.807000	0.75201	2.187000	0.69744	0.533000	0.62120	AAA		0.308	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		7	399	0	0	0	1	0	7	399					G	51937366	T	G	51937366	3	3	79	1	0	0	0	0	1	0	0	0	5210	1841	64	4	2667	4	EPS15	1	51937366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23581	51937366	197313255	602	10919											
OSBPL9	114883	broad.mit.edu	37	chr1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctcatccccaaagcGcttaatagagtgagtagatg	11	8	1	3	rs367629267		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000428468.1	+	12	931	c.929G>A	c.(928-930)cGc>cAc	p.R310H	OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	310					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(982-984)cGc>cAc		oxysterol binding protein-like 9		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66	64	65		929,395,395,878,599,890,959	2	1	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	OSBPL9	NM_024586.5,NM_148904.3,NM_148905.3,NM_148906.2,NM_148907.2,NM_148908.3,NM_148909.3	29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	310/737,132/559,132/559,293/720,200/627,297/724,320/747	52231644	1,13005	2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52231644G>A	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.929G>A	1.37:g.52231644G>A	ENSP00000407168:p.Arg310His					OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R310H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H	p.R328H	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			12	1165	+			310					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.983G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465138	0.43839	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.86	1.97	0.26223	.	0.100852	0.64402	N	0.000001	T	0.13457	0.0326	N	0.04880	-0.145	0.37295	D	0.908439	D;B;B;B;B	0.76494	0.999;0.007;0.0;0.01;0.01	P;B;B;B;B	0.62649	0.905;0.003;0.001;0.003;0.003	T	0.17868	-1.0355	10	0.44086	T	0.13	-14.4153	10.3018	0.43656	0.2153:0.0:0.7847:0.0	.	293;200;326;310;315	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	H	297;328;315;320;145;310;293;229;145;200;132;132	ENSP00000360779:R297H;ENSP00000360775:R328H;ENSP00000337265:R315H;ENSP00000412733:R320H;ENSP00000402646:R145H;ENSP00000407168:R310H;ENSP00000413263:R293H;ENSP00000433675:R229H;ENSP00000433083:R145H;ENSP00000354970:R200H;ENSP00000433279:R132H;ENSP00000431980:R132H	ENSP00000337265:R315H	R	+	2	0	OSBPL9	52004232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.545000	0.45769	0.338000	0.23692	0.650000	0.86243	CGC		0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			25	269	0	0	0	1	0	25	269					A	52231644	G	A	52231644	3	1	79	1	0	0	0	0	1	0	0	0	11326	1087	38	1	1079	1	OSBPL9	1	52231644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294278	52231644	197018977	603	10920											
OSBPL9	114883	broad.mit.edu	37	chr1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctggatctgcctcaGtcctgacacacagcagctcg	9	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000428468.1	+	13	960	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	320					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1012-1014)Gtc>Atc		oxysterol binding protein-like 9							95	89	91					1																	52237761		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52237761G>A	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.958G>A	1.37:g.52237761G>A	ENSP00000407168:p.Val320Ile					OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000428468.1_Missense_Mutation_p.V320I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I	p.V338I	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			13	1194	+			320					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1012G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169656	0.38315	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	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	5.04	5.04	0.67666	.	0.199297	0.43416	D	0.000570	T	0.15478	0.0373	L	0.40543	1.245	0.32136	N	0.586092	B;B;B;B;B	0.11235	0.0;0.004;0.003;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.002	T	0.03875	-1.0996	10	0.35671	T	0.21	-9.6826	12.9341	0.58303	0.0771:0.0:0.9228:0.0	.	303;210;336;320;325	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	I	307;338;325;330;155;320;303;239;155;210;142;142	ENSP00000360779:V307I;ENSP00000360775:V338I;ENSP00000337265:V325I;ENSP00000412733:V330I;ENSP00000402646:V155I;ENSP00000407168:V320I;ENSP00000413263:V303I;ENSP00000433675:V239I;ENSP00000433083:V155I;ENSP00000354970:V210I;ENSP00000433279:V142I;ENSP00000431980:V142I	ENSP00000337265:V325I	V	+	1	0	OSBPL9	52010349	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.065000	0.57513	2.621000	0.88768	0.655000	0.94253	GTC		0.393	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			40	141	0	0	0	1	0	40	141					A	52237761	G	A	52237761	3	1	79	1	0	0	0	0	1	0	0	0	11326	1029	36	2	1112	2	OSBPL9	1	52237761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6117	52237761	197012860	604	10921											
NRD1	114883	broad.mit.edu	37	chr1	52254946	52254946	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggggagaaggttgagtgTtgttgtgaaagccctgatat	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52254946T>G	ENST00000428468.1	+	0	2893				NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P|NRD1_ENST00000354831.7_Missense_Mutation_p.T1208P|NRD1_ENST00000485608.1_5'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AGGTTGAGTGTTGTTGTGAAA	0.398																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3622-3624)Aca>Cca		nardilysin (N-arginine dibasic convertase)							164	153	157					1																	52254946		2203	4300	6503	SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52254946T>G	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		1.37:g.52254946T>G						NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P|NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000485608.1_5'UTR	p.T1208P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			33	3811	-			1139					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.3622A>C	CCDS41332.3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.08|13.08|13.08	2.130634|2.130634|2.130634	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000078618|ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000546169|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665	.|.|T;T;T	.|.|0.32988	.|.|1.43;1.44;1.43	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|.|0.347388	.|.|0.34777	.|.|N	.|.|0.003685	T|T|T	0.22666|0.22666|0.22666	0.0547|0.0547|0.0547	N|N|N	0.25647|0.25647|0.25647	0.755|0.755|0.755	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.17038	.|.|0.009;0.02	.|.|B;B	.|.|0.12156	.|.|0.005;0.007	T|T|T	0.03829|0.03829|0.03829	-1.1000|-1.1000|-1.1000	5|6|10	.|0.72032|0.46703	.|D|T	.|0.01|0.11	-0.2449|-0.2449|-0.2449	11.2735|11.2735|11.2735	0.49153|0.49153|0.49153	0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475	.|.|.	.|.|1139;1208	.|.|O43847;B1AKJ5	.|.|NRDC_HUMAN;.	T|H|P	526|1139|1140;1208;1076;542	.|.|ENSP00000262679:T1140P;ENSP00000346890:T1208P;ENSP00000444416:T1076P	.|ENSP00000437424:Q1139H|ENSP00000262679:T1140P	N|Q|T	-|-|-	2|3|1	0|2|0	NRD1|NRD1|NRD1	52027534|52027534|52027534	0.294000|0.294000|0.294000	0.24380|0.24380|0.24380	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.592000|0.592000|0.592000	0.23984|0.23984|0.23984	2.202000|2.202000|2.202000	0.70862|0.70862|0.70862	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	AAC|CAA|ACA		0.398	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			89	358	0	0	0	1	0	89	358					G	52254946	T	G	52254946	1	3	79	0	1	0	0	0	0	0	0	0	10687	1725	60	4		4	NRD1	1	52254946	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17185	52254946	196995675	605	10922											
NRD1	4898	broad.mit.edu	37	chr1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatccagaattctctcaatCtagcatgtgtatcaatatta	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	364					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCTCAATCTAGCATGTGT	0.323																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1297-1299)aGa>aTa		nardilysin (N-arginine dibasic convertase)							101	98	99					1																	52289401		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52289401C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1298G>T	1.37:g.52289401C>A	ENSP00000346890:p.Arg433Ile					NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR	p.R433I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			9	1487	-			364					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1298G>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891953	0.72524	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.71184	0.933;0.96;0.972	T	0.45338	-0.9268	10	0.48119	T	0.1	-10.9322	19.1375	0.93433	0.0:1.0:0.0:0.0	.	365;364;433	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	I	365;433;301;365;233	ENSP00000262679:R365I;ENSP00000346890:R433I;ENSP00000444416:R301I;ENSP00000442262:R233I	ENSP00000262679:R365I	R	-	2	0	NRD1	52061989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.671000	0.68095	2.532000	0.85374	0.655000	0.94253	AGA		0.323	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		20	256	1	0	7.87624e-14	1	8.52853e-14	20	256					A	52289401	C	A	52289401	3	1	79	1	0	0	0	0	1	0	0	0	10687	913	32	3	2461	3	NRD1	1	52289401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34455	52289401	196961220	606	10923											
NRD1	4898	broad.mit.edu	37	chr1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgaggcattatcactacCcccatgcttcttcaggaagg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	260					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(985-987)Ggt>Tgt		nardilysin (N-arginine dibasic convertase)							167	158	161					1																	52299774		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52299774C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.985G>T	1.37:g.52299774C>A	ENSP00000346890:p.Gly329Cys					NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR	p.G329C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			6	1174	-			260					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.985G>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109090	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81129	-0.1073	10	0.87932	D	0	-14.0013	20.4238	0.99064	0.0:1.0:0.0:0.0	.	261;260;329	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	261;329;197;261;129	ENSP00000262679:G261C;ENSP00000346890:G329C;ENSP00000444416:G197C;ENSP00000442262:G129C	ENSP00000262679:G261C	G	-	1	0	NRD1	52072362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.834000	0.97654	0.650000	0.86243	GGT		0.403	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		89	440	1	0	7.28744e-38	1	8.7633e-38	89	440					A	52299774	C	A	52299774	3	1	79	1	0	0	0	0	1	0	0	0	10687	623	22	3	2786	3	NRD1	1	52299774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10373	52299774	196950847	607	10924											
NRD1	4898	broad.mit.edu	37	chr1	52302111	52302111	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgctgaacaggtgcagacCtaaggaaaaaaagcagaaac	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.e4-1		nardilysin (N-arginine dibasic convertase)							29	29	29					1																	52302111		2202	4300	6502	SO:0001630	splice_region_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52302111C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.765-1G>T	1.37:g.52302111C>A						NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			4	954	-								A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37		CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082348	0.55861	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	6.08	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4518	0.50158	0.0:0.9176:0.0:0.0824	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52074699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.584000	0.49913	0.655000	0.94253	.		0.463	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	22	121	1	0	2.70639e-06	1	2.78742e-06	22	121					A	52302111	C	A	52302111	5	1	79	1	0	0	0	0	0	0	1	0	10687	695	24	3	3015	3	NRD1	1	52302111	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2337	52302111	196948510	608	10925											
KTI12	112970	broad.mit.edu	37	chr1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacagctgcgtcgtccAccacgtacaccgcgcggccc	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	35							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(103-105)gTg>gCg		KTI12 homolog, chromatin associated (S. cerevisiae)							23	24	24					1																	52499330		2203	4299	6502	SO:0001583	missense	112970						ATP binding	g.chr1:52499330A>G		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.104T>C	1.37:g.52499330A>G	ENSP00000360676:p.Val35Ala					RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.V35A	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	158	-			35						Missense_Mutation	SNP	ENST00000371614.1	37	c.104T>C	CCDS562.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813943	0.50527	.	.	ENSG00000198841	ENST00000371614	T	0.35048	1.33	5.07	5.07	0.68467	.	0.083649	0.47093	U	0.000257	T	0.45013	0.1321	M	0.67517	2.055	0.24520	N	0.994164	P	0.49090	0.919	P	0.49226	0.603	T	0.43343	-0.9397	10	0.44086	T	0.13	.	12.3295	0.55031	1.0:0.0:0.0:0.0	.	35	Q96EK9	KTI12_HUMAN	A	35	ENSP00000360676:V35A	ENSP00000360676:V35A	V	-	2	0	KTI12	52271918	1.000000	0.71417	0.423000	0.26634	0.039000	0.13416	4.761000	0.62243	2.127000	0.65507	0.533000	0.62120	GTG		0.687	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		14	168	0	0	0	1	0	14	168					G	52499330	A	G	52499330	3	3	79	1	0	0	0	0	1	0	0	0	8615	159	6	4	964	4	KTI12	1	52499330	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197219	52499330	196751291	609	10926											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaaagatatgaattcagaGaaacaaatggatccattgaa	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000371591.1	+	3	761	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	210					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATTCAGAGAAACAAATGG	0.368																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(628-630)gaG>gaT		zinc finger, FYVE domain containing 9							64	67	66					1																	52703719		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703719G>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.630G>T	1.37:g.52703719G>T	ENSP00000360647:p.Glu210Asp					ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.E210D|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E210D	p.E210D	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	802	+			210					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.630G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604550	0.46423	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.12	3.0	0.34707	.	0.090443	0.45867	D	0.000335	T	0.46814	0.1412	N	0.24115	0.695	0.26594	N	0.973148	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.76071	0.987;0.97;0.986	T	0.26326	-1.0106	10	0.29301	T	0.29	.	5.8444	0.18657	0.4275:0.0:0.5725:0.0	.	210;210;210	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	210	ENSP00000349737:E210D;ENSP00000355358:E210D;ENSP00000287727:E210D;ENSP00000360647:E210D	ENSP00000287727:E210D	E	+	3	2	ZFYVE9	52476307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.675000	0.25232	0.558000	0.29135	0.655000	0.94253	GAG		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		91	361	1	0	4.05715e-38	1	4.88277e-38	91	361					T	52703719	G	T	52703719	3	4	79	1	0	0	0	0	1	0	0	0	17724	933	33	3	636	3	ZFYVE9	1	52703719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204389	52703719	196546902	610	10927											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccattgaatagaccgaaaAcagaggggagatctgttaac	10	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000371591.1	+	3	792	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	221					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAGACCGAAAACAGAGGGGAG	0.373																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(661-663)Aca>Cca		zinc finger, FYVE domain containing 9							89	92	91					1																	52703750		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703750A>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.661A>C	1.37:g.52703750A>C	ENSP00000360647:p.Thr221Pro					ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.T221P|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.T221P	p.T221P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	833	+			221					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.661A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953594	0.02285	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.12	-9.75	0.00506	.	0.651366	0.13926	N	0.353228	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.05257	-1.0896	10	0.33940	T	0.23	.	1.5073	0.02489	0.2786:0.1846:0.3538:0.183	.	221;221;221	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	P	221	ENSP00000349737:T221P;ENSP00000355358:T221P;ENSP00000287727:T221P;ENSP00000360647:T221P	ENSP00000287727:T221P	T	+	1	0	ZFYVE9	52476338	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-1.926000	0.01562	-1.906000	0.01089	-1.410000	0.01125	ACA		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		58	486	0	0	0	1	0	58	486					C	52703750	A	C	52703750	3	2	79	1	0	0	0	0	1	0	0	0	17724	43	2	4	667	4	ZFYVE9	1	52703750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31	52703750	196546871	611	10928											
CC2D1B	200014	broad.mit.edu	37	chr1	52824024	52824024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtctttatcagcCggggctgaatcctctgcaga	10	13	3	2	rs140467530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480						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)	p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.001					ENST00000371586.2																			1	Substitution - coding silent(1)	p.P480P(1)	lung(1)	breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1438-1440)ccG>ccA		coiled-coil and C2 domain containing 1B		C		0,4406		0,0,2203	55	53	54		1440	-6	0	1	dbSNP_134	54	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CC2D1B	NM_032449.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		480/859	52824024	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	200014							g.chr1:52824024C>T	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.1440G>A	1.37:g.52824024C>T						CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	p.P480P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			13	1578	-			480					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.1440G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035508	0.02029	0.0	4.65E-4	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	Q	267;400	.	.	R	-	2	0	CC2D1B	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG		0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		24	285	0	0	0	1	0	24	285					T	52824024	C	T	52824024	2	4	79	1	0	0	0	0	0	0	0	1	2734	639	23	1		1	CC2D1B	1	52824024	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120274	52824024	196426597	612	10929											
CC2D1B	200014	broad.mit.edu	37	chr1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacgtcaggggccatcaCtggctgcactcgctccacgg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	366						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						GGGGCCATCACTGGCTGCACT	0.652																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1096-1098)Gtg>Atg		coiled-coil and C2 domain containing 1B							39	43	41					1																	52824952		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52824952C>T	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.1096G>A	1.37:g.52824952C>T	ENSP00000360642:p.Val366Met					CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_De_novo_Start_InFrame	p.V366M	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			10	1234	-			366					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1096G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534462	0.45073	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26518	1.73;1.73	4.3	3.38	0.38709	.	0.357869	0.22207	N	0.063158	T	0.24851	0.0603	L	0.55481	1.735	0.80722	D	1	B;B	0.32968	0.392;0.392	B;B	0.34779	0.157;0.189	T	0.04708	-1.0932	10	0.45353	T	0.12	-5.1845	9.661	0.39954	0.2081:0.7919:0.0:0.0	.	152;366	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	M	366;366;280	ENSP00000360642:V366M;ENSP00000284376:V366M	ENSP00000284376:V366M	V	-	1	0	CC2D1B	52597540	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.153000	0.42468	0.650000	0.86243	GTG		0.652	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		72	224	0	0	0	1	0	72	224					T	52824952	C	T	52824952	3	4	79	1	0	0	0	0	1	0	0	0	2734	565	20	2	1540	2	CC2D1B	1	52824952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928	52824952	196425669	613	10930											
ZCCHC11	23318	broad.mit.edu	37	chr1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttagggattgccacagGtctggcagcaggctgtgcaa	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1539	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGCCACAGGTCTGGCAGCA	0.557																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4615-4617)Cct>Tct		zinc finger, CCHC domain containing 11							116	104	108					1																	52896778		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52896778G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4615C>T	1.37:g.52896778G>A	ENSP00000360599:p.Pro1539Ser					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	p.P1539S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			28	4877	-			1539			Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4615C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618452|3.618452	0.66787|0.66787	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.49432|.	0.78;0.79|.	5.38|5.38	4.47|4.47	0.54385|0.54385	.|.	0.376195|.	0.27513|.	N|.	0.019037|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.36027|.	0.533|.	B|.	0.30943|.	0.122|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.19147|.	T|.	0.46|.	.|.	10.2182|10.2182	0.43182|0.43182	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	1539|.	Q5TAX3|.	TUT4_HUMAN|.	S|I	1540;1539|41	ENSP00000257177:P1540S;ENSP00000360599:P1539S|.	ENSP00000257177:P1540S|.	P|T	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669366|52669366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.062000|5.062000	0.64326|0.64326	1.275000|1.275000	0.44379|0.44379	0.563000|0.563000	0.77884|0.77884	CCT|ACC		0.557	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		63	254	0	0	0	1	0	63	254					A	52896778	G	A	52896778	3	1	79	1	0	0	0	0	1	0	0	0	17633	1261	44	2	331	2	ZCCHC11	1	52896778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71826	52896778	196353843	614	10931											
ZCCHC11	23318	broad.mit.edu	37	chr1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcttattgcttatttTccccttctctcttttcttga	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	729					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTATTTTCCCCTTCTCT	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2185-2187)Aaa>Gaa		zinc finger, CCHC domain containing 11							140	144	143					1																	52941046		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941046T>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2185A>G	1.37:g.52941046T>C	ENSP00000360599:p.Lys729Glu					ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2447	-			729					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2185A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525816	0.44969	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.52295	0.67;0.68;0.7;0.74	5.49	5.49	0.81192	.	0.209202	0.49305	D	0.000159	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B;P	0.44429	0.209;0.835	B;B	0.35278	0.051;0.199	T	0.18967	-1.0320	10	0.06365	T	0.9	.	10.0083	0.41970	0.0:0.0758:0.0:0.9242	.	488;729	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	729;729;658;488	ENSP00000257177:K729E;ENSP00000360599:K729E;ENSP00000433486:K658E;ENSP00000435256:K488E	ENSP00000257177:K729E	K	-	1	0	ZCCHC11	52713634	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	2.911000	0.48774	2.077000	0.62373	0.455000	0.32223	AAA		0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		171	605	0	0	0	1	0	171	605					C	52941046	T	C	52941046	3	2	79	1	0	0	0	0	1	0	0	0	17633	1792	62	4	2824	4	ZCCHC11	1	52941046	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44268	52941046	196309575	615	10932											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctttcaacagtaaaCtgggtcccttttctgcttct	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	165					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACAGTAAACTGGGTCCCTT	0.383																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(493-495)aGt>aAt		zinc finger, CCHC domain containing 11							188	195	192					1																	52991459		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991459C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.494G>A	1.37:g.52991459C>T	ENSP00000360599:p.Ser165Asn					ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	756	-			165					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.494G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639883	0.14386	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.51574	0.7;0.81;0.8	4.58	2.61	0.31194	.	1.264840	0.05126	N	0.491576	T	0.37293	0.0998	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.22277	-1.0221	10	0.31617	T	0.26	.	6.7983	0.23736	0.0:0.7609:0.0:0.2391	.	165;165;165;165	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	165	ENSP00000257177:S165N;ENSP00000360599:S165N;ENSP00000433486:S165N	ENSP00000257177:S165N	S	-	2	0	ZCCHC11	52764047	0.009000	0.17119	0.289000	0.24876	0.924000	0.55760	-0.119000	0.10676	0.572000	0.29383	0.655000	0.94253	AGT		0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		116	937	0	0	0	1	0	116	937					T	52991459	C	T	52991459	3	4	79	1	0	0	0	0	1	0	0	0	17633	565	20	2	4559	2	ZCCHC11	1	52991459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50413	52991459	196259162	616	10933											
FAM159A	348378	broad.mit.edu	37	chr1	53108559	53108559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctctcataggcctgtcCgtagcagcagtggttcttct	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	69						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522																																						ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(205-207)tcC>tcT		family with sequence similarity 159, member A							267	258	261					1																	53108559		2083	4193	6276	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53108559C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.207C>T	1.37:g.53108559C>T						FAM159A_ENST00000401050.3_3'UTR	p.S69S	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			2	357	+			69					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.207C>T	CCDS41336.1																																																																																				0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		253	949	0	0	0	1	0	253	949					T	53108559	C	T	53108559	2	4	79	1	0	0	0	0	0	0	0	1	5489	639	23	1		1	FAM159A	1	53108559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117100	53108559	196142062	617	10934											
FAM159A	348378	broad.mit.edu	37	chr1	53122577	53122577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacccgcagctggagagCaatgaggggcaggctgtgaa	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	146						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577																																						ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(436-438)agC>agT		family with sequence similarity 159, member A							96	103	101					1																	53122577		2030	4205	6235	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53122577C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.438C>T	1.37:g.53122577C>T						FAM159A_ENST00000401050.3_Intron	p.S146S	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			3	588	+			146					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.438C>T	CCDS41336.1																																																																																				0.577	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		140	486	0	0	0	1	0	140	486					T	53122577	C	T	53122577	2	4	79	1	0	0	0	0	0	0	0	1	5489	709	25	2		2	FAM159A	1	53122577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14018	53122577	196128044	618	10935											
ZYG11B	79699	broad.mit.edu	37	chr1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcctacctaaccttgtttCtctggatgtttctgggagaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(808-810)tCt>tTt		zyg-11 family member B, cell cycle regulator							87	80	82					1																	53237304		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53237304C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.809C>T	1.37:g.53237304C>T	ENSP00000294353:p.Ser270Phe					ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			3	954	+			270					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.809C>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431254	0.83776	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.02197	4.4;4.4;4.4	5.26	5.26	0.73747	Armadillo-type fold (1);	0.099216	0.64402	D	0.000001	T	0.09686	0.0238	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.98;0.992	T	0.44003	-0.9356	10	0.07813	T	0.8	.	19.1243	0.93376	0.0:1.0:0.0:0.0	.	270;270	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	270	ENSP00000400522:S270F;ENSP00000441315:S270F;ENSP00000294353:S270F	ENSP00000294353:S270F	S	+	2	0	ZYG11B	53009892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.532000	0.81985	2.741000	0.93983	0.650000	0.86243	TCT		0.393	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		69	241	0	0	0	1	0	69	241					T	53237304	C	T	53237304	3	4	79	1	0	0	0	0	1	0	0	0	18306	913	32	2	819	2	ZYG11B	1	53237304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114727	53237304	196013317	619	10936											
ZYG11B	79699	broad.mit.edu	37	chr1	53262444	53262444	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacagcttggtactgagctCttcattgtcagggtaagtct	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	491										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1471-1473)ctC>ctT		zyg-11 family member B, cell cycle regulator							143	132	136					1																	53262444		2203	4300	6503	SO:0001819	synonymous_variant	79699						protein binding	g.chr1:53262444C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1473C>T	1.37:g.53262444C>T						ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			8	1618	+			491					Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	c.1473C>T	CCDS30717.1																																																																																				0.338	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		64	210	0	0	0	1	0	64	210					T	53262444	C	T	53262444	2	4	79	1	0	0	0	0	0	0	0	1	18306	900	32	2		2	ZYG11B	1	53262444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25140	53262444	195988177	620	10937											
ECHDC2	55268	broad.mit.edu	37	chr1	53370467	53370467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagctccttcgccaGggccacccccagacaacggg	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000371522.4	-	7	646	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	185					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(415-417)Ctg>Ttg		enoyl CoA hydratase domain containing 2							40	37	38					1																	53370467		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370467G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.553C>T	1.37:g.53370467G>A						ECHDC2_ENST00000371522.4_Silent_p.L185L|ECHDC2_ENST00000358358.5_Silent_p.L154L	p.L139L			Q86YB7	ECHD2_HUMAN			10	1232	-			185					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.415C>T	CCDS55600.1																																																																																				0.637	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		25	212	0	0	0	1	0	25	212					A	53370467	G	A	53370467	2	1	79	1	0	0	0	0	0	0	0	1	4910	991	35	2		2	ECHDC2	1	53370467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108023	53370467	195880154	621	10938											
SCP2	6342	broad.mit.edu	37	chr1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgtacagaagtatgGcctgcaatccaaagctgtgg	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000528311.1	+	8	790	c.494G>A	c.(493-495)gGc>gAc	p.G165D	SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	292					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(736-738)gGc>gAc		sterol carrier protein 2							97	94	95					1																	53443951		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53443951G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.494G>A	1.37:g.53443951G>A	ENSP00000434132:p.Gly165Asp					SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000528311.1_Missense_Mutation_p.G165D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000473584.1_3'UTR	p.G246D	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			9	905	+			246					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.737G>A	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.627|5.627	0.300414|0.300414	0.10678|0.10678	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95885	.|-3.84;-0.6;-3.84;-3.84;-3.84	5.17|5.17	-1.38|-1.38	0.09027|0.09027	.|Thiolase-like (1);	.|0.789478	.|0.12497	.|N	.|0.463694	D|D	0.94072|0.94072	0.8100|0.8100	M|M	0.79693|0.79693	2.465|2.465	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31174	.|0.311;0.027;0.059;0.021	.|B;B;B;B	.|0.31442	.|0.13;0.009;0.033;0.02	D|D	0.87879|0.87879	0.2676|0.2676	5|10	.|0.52906	.|T	.|0.07	0.0831|0.0831	11.4404|11.4404	0.50094|0.50094	0.5016:0.0:0.4984:0.0|0.5016:0.0:0.4984:0.0	.|.	.|222;202;246;202	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	T|D	192|246;165;202;222;202	.|ENSP00000360569:G246D;ENSP00000434132:G165D;ENSP00000360564:G202D;ENSP00000384569:G222D;ENSP00000360568:G202D	.|ENSP00000360564:G202D	A|G	+|+	1|2	0|0	SCP2|SCP2	53216539|53216539	0.007000|0.007000	0.16637|0.16637	0.004000|0.004000	0.12327|0.12327	0.059000|0.059000	0.15707|0.15707	0.695000|0.695000	0.25527|0.25527	-0.111000|-0.111000	0.12001|0.12001	-0.781000|-0.781000	0.03364|0.03364	GCC|GGC		0.408	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		20	201	0	0	0	1	0	20	201					A	53443951	G	A	53443951	3	1	79	1	0	0	0	0	1	0	0	0	13984	1203	42	2	771	2	SCP2	1	53443951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73484	53443951	195806670	622	10939											
SLC1A7	6512	broad.mit.edu	37	chr1	53556405	53556405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcacccacgggcagcaCgaagcgagcgatgcgccggt	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	ENST00000371494.4	-	8	1232	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	369					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGGGCAGCACGAAGCGAGCG	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1105-1107)Gtg>Atg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						118	83	95					1																	53556405		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53556405C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1105G>A	1.37:g.53556405C>T	ENSP00000360549:p.Val369Met					SLC1A7_ENST00000488036.1_5'UTR	p.V369M	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	8	1232	-			369					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.1105G>A	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191525	0.78902	.	.	ENSG00000162383	ENST00000371494	T	0.66460	-0.21	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.89565	0.3809	10	0.72032	D	0.01	-3.4286	13.9422	0.64062	0.0:0.9265:0.0:0.0735	.	369	O00341	EAA5_HUMAN	M	369	ENSP00000360549:V369M	ENSP00000360549:V369M	V	-	1	0	SLC1A7	53328993	1.000000	0.71417	0.937000	0.37676	0.715000	0.41141	6.089000	0.71384	1.263000	0.44181	0.313000	0.20887	GTG		0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		5	138	0	0	0	1	0	5	138					T	53556405	C	T	53556405	3	4	79	1	0	0	0	0	1	0	0	0	14487	536	19	1	593	1	SLC1A7	1	53556405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112454	53556405	195694216	623	10940											
SLC1A7	6512	broad.mit.edu	37	chr1	53608004	53608004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtggtgagaggcgccGggtcctcaagaagaagccga	16	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	ENST00000371494.4	-	1	245	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	40					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GAGAGGCGCCGGGTCCTCAAG	0.647																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(118-120)Cgg>Tgg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						89	65	73					1																	53608004		2192	4286	6478	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53608004G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.118C>T	1.37:g.53608004G>A	ENSP00000360549:p.Arg40Trp					SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	1	245	-			40					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.118C>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296002	0.60086	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.58652	0.32;0.32	5.53	4.56	0.56223	.	0.349234	0.27730	N	0.018100	T	0.55386	0.1917	N	0.24115	0.695	0.37736	D	0.925439	D;B	0.57899	0.981;0.205	P;P	0.56788	0.806;0.67	T	0.58301	-0.7660	10	0.41790	T	0.15	-7.2551	11.5809	0.50891	0.0:0.0:0.6608:0.3392	.	40;40	Q9BW45;O00341	.;EAA5_HUMAN	W	40	ENSP00000360549:R40W;ENSP00000360546:R40W	ENSP00000360546:R40W	R	-	1	2	SLC1A7	53380592	0.893000	0.30496	1.000000	0.80357	0.629000	0.37895	2.726000	0.47302	2.602000	0.87976	0.555000	0.69702	CGG		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		5	23	0	0	0	1	0	5	23					A	53608004	G	A	53608004	3	1	79	1	0	0	0	0	1	0	0	0	14487	1115	39	1	1608	1	SLC1A7	1	53608004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51599	53608004	195642617	624	10941											
CPT2	1376	broad.mit.edu	37	chr1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcctgaggaaagtggactCggcagtgttctgtctctgcc	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	320					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(958-960)tCg>tTg		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						87	81	83					1																	53676305		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676305C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.959C>T	1.37:g.53676305C>T	ENSP00000360541:p.Ser320Leu					RP5-1024G6.2_ENST00000452466.1_RNA	p.S320L	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1474	+			320					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.959C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894892	0.72639	.	.	ENSG00000157184	ENST00000371486	D	0.91295	-2.82	5.51	5.51	0.81932	.	0.206216	0.50627	D	0.000101	D	0.96842	0.8969	H	0.94964	3.605	0.45415	D	0.998399	D	0.89917	1.0	D	0.74023	0.982	D	0.97558	1.0096	10	0.72032	D	0.01	-27.5427	19.4394	0.94811	0.0:1.0:0.0:0.0	.	320	P23786	CPT2_HUMAN	L	320	ENSP00000360541:S320L	ENSP00000360541:S320L	S	+	2	0	CPT2	53448893	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.438000	0.52871	2.581000	0.87130	0.655000	0.94253	TCG		0.537	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		43	334	0	0	0	1	0	43	334					T	53676305	C	T	53676305	3	4	79	1	0	0	0	0	1	0	0	0	3843	893	31	1	973	1	CPT2	1	53676305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68301	53676305	195574316	625	10942											
LRP8	7804	broad.mit.edu	37	chr1	53716509	53716509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagatcaggtatccActcatgcacaggagggctat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000306052.6	-	17	2630	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000371454.2_Silent_p.S843S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	843					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2527-2529)agT>agC		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							171	150	157					1																	53716509		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53716509A>G	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2529T>C	1.37:g.53716509A>G						LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000347547.2_Silent_p.S673S	p.S843S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			17	2630	-			843					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.2529T>C	CCDS578.1																																																																																				0.498	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		39	355	0	0	0	1	0	39	355					G	53716509	A	G	53716509	2	3	79	1	0	0	0	0	0	0	0	1	9001	156	6	4		4	LRP8	1	53716509	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40204	53716509	195534112	626	10943											
LRP8	7804	broad.mit.edu	37	chr1	53746293	53746293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatccgctccaccctcGcagtccttctccccgtcgca	6	22	2	0	rs558436036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000306052.6	-	4	563	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000371454.2_Silent_p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	154	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(460-462)tgC>tgT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							110	81	91					1																	53746293		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53746293G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.462C>T	1.37:g.53746293G>A						LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C	p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			4	563	-			154			LDL-receptor class A 3.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.462C>T	CCDS578.1																																																																																				0.642	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		49	210	0	0	0	1	0	49	210					A	53746293	G	A	53746293	2	1	79	1	0	0	0	0	0	0	0	1	9001	1079	38	1		1	LRP8	1	53746293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29784	53746293	195504328	627	10944											
GLIS1	148979	broad.mit.edu	37	chr1	53975654	53975654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcggcggtggccccaGccccttcagggggctgacta	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53975654G>A	ENST00000312233.2	-	8	1971	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCCCCAGCCCCTTCAGG	0.687																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1405-1407)Ctg>Ttg		GLIS family zinc finger 1							10	12	11					1																	53975654		2169	4237	6406	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975654G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1405C>T	1.37:g.53975654G>A							p.L469L	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	1971	-			469			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1405C>T	CCDS582.1																																																																																				0.687	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		10	41	0	0	0	1	0	10	41					A	53975654	G	A	53975654	2	1	79	1	0	0	0	0	0	0	0	1	6474	962	34	2		2	GLIS1	1	53975654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229361	53975654	195274967	628	10945											
TMEM48	55706	broad.mit.edu	37	chr1	54254859	54254859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaacagcctgaatggagGcctctgggtgctacaaataa	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54254859G>A	ENST00000371429.3	-	15	2244	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	NDC1_ENST00000540001.1_Silent_p.G512G|NDC1_ENST00000234725.8_Missense_Mutation_p.A434V|NDC1_ENST00000537333.1_Missense_Mutation_p.A214V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	549					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CTGAATGGAGGCCTCTGGGTG	0.343																																						ENST00000371429.3																			0											c.(1645-1647)gCc>gTc		NDC1 transmembrane nucleoporin							37	39	38					1																	54254859		2203	4300	6503	SO:0001583	missense	55706							g.chr1:54254859G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1646C>T	1.37:g.54254859G>A	ENSP00000360483:p.Ala549Val					NDC1_ENST00000234725.8_Missense_Mutation_p.A434V|NDC1_ENST00000540001.1_Silent_p.G512G|NDC1_ENST00000537333.1_Missense_Mutation_p.A214V	p.A549V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					15	2244	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.1646C>T	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799515	0.50208	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	.	0.049077	0.85682	D	0.000000	T	0.48241	0.1489	L	0.43923	1.385	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.41510	0.359;0.359	T	0.46133	-0.9213	10	0.30078	T	0.28	.	16.9311	0.86190	0.0:0.0:1.0:0.0	.	509;549	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	549;432;214;434	ENSP00000360483:A549V;ENSP00000439947:A214V;ENSP00000234725:A434V	ENSP00000234725:A434V	A	-	2	0	TMEM48	54027447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.392000	0.81423	0.563000	0.77884	GCC		0.343	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		35	136	0	0	0	1	0	35	136					A	54254859	G	A	54254859	3	1	79	1	0	0	0	0	1	0	0	0	16224	1203	42	2	394	2	TMEM48	1	54254859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279205	54254859	194995762	629	10946											
TMEM48	55706	broad.mit.edu	37	chr1	54291547	54291547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctatagcccataaatgctCcagtcagtaggaaaaaaaga	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54291547C>A	ENST00000371429.3	-	5	1116	c.518G>T	c.(517-519)gGa>gTa	p.G173V	NDC1_ENST00000480952.1_5'UTR|AL049745.1_ENST00000578163.1_RNA|NDC1_ENST00000540001.1_Missense_Mutation_p.G173V|NDC1_ENST00000234725.8_Missense_Mutation_p.G58V|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	173					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CATAAATGCTCCAGTCAGTAG	0.368																																						ENST00000371429.3																			0											c.(517-519)gGa>gTa		NDC1 transmembrane nucleoporin							96	96	96					1																	54291547		2203	4300	6503	SO:0001583	missense	55706							g.chr1:54291547C>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.518G>T	1.37:g.54291547C>A	ENSP00000360483:p.Gly173Val					NDC1_ENST00000234725.8_Missense_Mutation_p.G58V|NDC1_ENST00000540001.1_Missense_Mutation_p.G173V|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	p.G173V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					5	1116	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.518G>T	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611358	0.87258	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.50001	0.76;0.76;0.76	5.26	5.26	0.73747	.	0.101474	0.64402	D	0.000002	T	0.66567	0.2802	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.59653	-0.7414	10	0.17369	T	0.5	.	19.2925	0.94108	0.0:1.0:0.0:0.0	.	133;173	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	173;173;173;58	ENSP00000360483:G173V;ENSP00000440873:G173V;ENSP00000234725:G58V	ENSP00000234725:G58V	G	-	2	0	TMEM48	54064135	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.552000	0.73914	2.631000	0.89168	0.460000	0.39030	GGA		0.368	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		80	296	1	0	7.2426e-40	1	8.76758e-40	80	296					A	54291547	C	A	54291547	3	1	79	1	0	0	0	0	1	0	0	0	16224	855	30	3	1562	3	TMEM48	1	54291547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36688	54291547	194959074	630	10947											
YIPF1	54432	broad.mit.edu	37	chr1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggggagcttttcttctgtCcagcaagtaactgtcagaaa	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	69						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTCTTCTGTCCAGCAAGTAA	0.393																																						ENST00000072644.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.(205-207)gGa>gAa		Yip1 domain family, member 1							78	81	80					1																	54344385		2203	4300	6503	SO:0001583	missense	54432					integral to membrane|transport vesicle		g.chr1:54344385C>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"Yip1 domain family"	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.206G>A	1.37:g.54344385C>T	ENSP00000072644:p.Gly69Glu					YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	p.G69E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN			5	542	-			69					B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	c.206G>A	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993707	0.54041	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.52609	-0.8553	9	0.11794	T	0.64	-0.3282	17.341	0.87296	0.0:1.0:0.0:0.0	.	69	Q9Y548	YIPF1_HUMAN	E	69;94;69	.	ENSP00000072644:G69E	G	-	2	0	YIPF1	54116973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.317000	0.59184	2.478000	0.83669	0.591000	0.81541	GGA		0.393	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		25	244	0	0	0	1	0	25	244					T	54344385	C	T	54344385	3	4	79	1	0	0	0	0	1	0	0	0	17531	855	30	2	738	2	YIPF1	1	54344385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52838	54344385	194906236	631	10948											
HSPB11	51668	broad.mit.edu	37	chr1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcacagatgcaaaatgaTcaaaggctgatacaataatg	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	124					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348																																						ENST00000194214.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(370-372)gAt>gCt		heat shock protein family B (small), member 11							120	111	114					1																	54387388		1879	4126	6005	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54387388T>G	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"Intraflagellar transport homologs", "Heat shock proteins / HSPB"	25019	protein-coding gene	gene with protein product	"intraflagellar transport 25 homolog (Chlamydomonas)"		"chromosome 1 open reading frame 41"	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.371A>C	1.37:g.54387388T>G	ENSP00000194214:p.Asp124Ala					HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	p.D124A	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN			6	760	-			124					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.371A>C	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406711	0.62399	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.64567	1.98	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.81915	-0.0714	10	0.35671	T	0.21	-25.3596	11.9234	0.52806	0.0:0.0:0.0:1.0	.	124	Q9Y547	HSB11_HUMAN	A	124	ENSP00000194214:D124A;ENSP00000360429:D124A	ENSP00000194214:D124A	D	-	2	0	HSPB11	54159976	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.426000	0.59882	2.089000	0.63090	0.533000	0.62120	GAT		0.348	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		36	335	0	0	0	1	0	36	335					G	54387388	T	G	54387388	3	3	79	1	0	0	0	0	1	0	0	0	7449	1435	50	4	67	4	HSPB11	1	54387388	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43003	54387388	194863233	632	10949											
LRRC42	115353	broad.mit.edu	37	chr1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgagggctttacagAaattcactgaggcctatgga	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	140										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGCTTTACAGAAATTCACTGA	0.463																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(418-420)Aaa>Caa		leucine rich repeat containing 42							65	65	65					1																	54418090		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54418090A>C	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.418A>C	1.37:g.54418090A>C	ENSP00000360421:p.Lys140Gln					LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			3	939	+			140					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.418A>C	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190926	0.58017	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.52	5.52	0.82312	.	0.113302	0.64402	D	0.000017	T	0.61502	0.2352	N	0.24115	0.695	0.38195	D	0.940032	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.74674	0.943;0.984;0.879	T	0.59343	-0.7472	9	0.15952	T	0.53	-17.9803	15.9419	0.79763	1.0:0.0:0.0:0.0	.	140;140;140	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Q	140	.	ENSP00000318185:K140Q	K	+	1	0	LRRC42	54190678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.235000	0.73313	0.459000	0.35465	AAA		0.463	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		25	236	0	0	0	1	0	25	236					C	54418090	A	C	54418090	3	2	79	1	0	0	0	0	1	0	0	0	9038	247	9	4	420	4	LRRC42	1	54418090	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30702	54418090	194832531	633	10950											
LRRC42	115353	broad.mit.edu	37	chr1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtttccctagtgtaaCtcagctccacctgaaggata	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	204										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCTAGTGTAACTCAGCTCCAC	0.358																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(610-612)aCt>aTt		leucine rich repeat containing 42							122	122	122					1																	54426034		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426034C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.611C>T	1.37:g.54426034C>T	ENSP00000360421:p.Thr204Ile					LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1132	+			204					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.611C>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560599	0.45590	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.31769	5.4;5.4;1.48	5.85	5.85	0.93711	.	0.172887	0.50627	D	0.000106	T	0.18467	0.0443	N	0.19112	0.55	0.35667	D	0.813013	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.15752	-1.0426	10	0.59425	D	0.04	-17.1487	10.0635	0.42288	0.1474:0.7809:0.0:0.0717	.	204;204	E7EP35;Q9Y546	.;LRC42_HUMAN	I	204	ENSP00000360421:T204I;ENSP00000318185:T204I;ENSP00000389368:T204I	ENSP00000318185:T204I	T	+	2	0	LRRC42	54198622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.393000	0.44442	2.941000	0.99782	0.655000	0.94253	ACT		0.358	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		16	393	0	0	0	1	0	16	393					T	54426034	C	T	54426034	3	4	79	1	0	0	0	0	1	0	0	0	9038	565	20	2	621	2	LRRC42	1	54426034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7944	54426034	194824587	634	10951											
LRRC42	115353	broad.mit.edu	37	chr1	54433606	54433606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgggacttgttaaattcCtattgattagtagatacaag	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1). {ECO:0000305}.						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(1279-1281)tcC>tcA		leucine rich repeat containing 42							78	83	81					1																	54433606		2203	4300	6503	SO:0001819	synonymous_variant	115353							g.chr1:54433606C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1281C>A	1.37:g.54433606C>A						LRRC42_ENST00000319223.4_Silent_p.S427S	p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			9	1802	+			427	KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1).				D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.1281C>A	CCDS585.1																																																																																				0.388	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		33	290	1	0	5.09552e-08	1	5.30909e-08	33	290					A	54433606	C	A	54433606	2	1	79	1	0	0	0	0	0	0	0	1	9038	668	24	3		3	LRRC42	1	54433606	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7572	54433606	194817015	635	10952											
LDLRAD1	388633	broad.mit.edu	37	chr1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggacagcgccaccacCcagggccgcagggtgggcac	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	166	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.(496-498)gGg>gAg		low density lipoprotein receptor class A domain containing 1							100	96	97					1																	54474776		2203	4300	6503	SO:0001583	missense	388633					integral to membrane	receptor activity	g.chr1:54474776C>T		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 1"				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.497G>A	1.37:g.54474776C>T	ENSP00000360411:p.Gly166Glu					LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E	p.G166E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN			6	514	-			166			LDL-receptor class A 3; atypical.		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	c.497G>A	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239336	0.39598	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.5	3.5	0.40072	.	0.116551	0.38897	N	0.001529	T	0.81983	0.4938	M	0.63428	1.95	0.36118	D	0.845287	B;B	0.12013	0.0;0.005	B;B	0.11329	0.002;0.006	T	0.71087	-0.4694	10	0.08381	T	0.77	-21.6953	4.3843	0.11309	0.0:0.7093:0.0:0.2907	.	123;166	B7ZME3;Q5T700	.;LRAD1_HUMAN	E	77;166;123;127	ENSP00000360413:G77E;ENSP00000360411:G166E;ENSP00000445871:G123E;ENSP00000411017:G127E	ENSP00000360411:G166E	G	-	2	0	LDLRAD1	54247364	0.019000	0.18553	0.980000	0.43619	0.607000	0.37147	0.674000	0.25218	2.348000	0.79779	0.655000	0.94253	GGG		0.597	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		63	636	0	0	0	1	0	63	636					T	54474776	C	T	54474776	3	4	79	1	0	0	0	0	1	0	0	0	8736	623	22	2	124	2	LDLRAD1	1	54474776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41170	54474776	194775845	636	10953											
TMEM59	9528	broad.mit.edu	37	chr1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtaggtcaactgacaggCccggtggcaagacgccgtat	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T|TCEANC2_ENST00000234827.1_5'Flank	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	51					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647																																						ENST00000234831.5																			0				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(151-153)Gcc>Acc		transmembrane protein 59							71	77	75					1																	54518711		2203	4300	6503	SO:0001583	missense	9528					Golgi membrane|integral to membrane		g.chr1:54518711C>T	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.151G>A	1.37:g.54518711C>T	ENSP00000234831:p.Ala51Thr					TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN			1	400	-			51					B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	c.151G>A	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074046	0.36566	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.44881	0.94;0.95;0.91	5.12	5.12	0.69794	.	0.234093	0.44285	D	0.000470	T	0.23370	0.0565	N	0.16368	0.405	0.40796	D	0.98329	B;B;B;B	0.22276	0.067;0.067;0.01;0.01	B;B;B;B	0.17098	0.017;0.008;0.003;0.002	T	0.07751	-1.0756	10	0.05351	T	0.99	-16.0678	13.0808	0.59114	0.0:0.9235:0.0:0.0765	.	51;51;51;51	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	T	51	ENSP00000234831:A51T;ENSP00000397772:A51T;ENSP00000360388:A51T	ENSP00000234831:A51T	A	-	1	0	TMEM59	54291299	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.736000	0.38187	2.653000	0.90120	0.655000	0.94253	GCC		0.647	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		76	322	0	0	0	1	0	76	322					T	54518711	C	T	54518711	3	4	79	1	0	0	0	0	1	0	0	0	16237	739	26	2	852	2	TMEM59	1	54518711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43935	54518711	194731910	637	10954											
CDCP2	200008	broad.mit.edu	37	chr1	54606931	54606931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaagcacagccacgtaGtcataggtgcactcttcatt	7	15	3	0	rs201306595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	201	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.0					ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(601-603)gaC>gaT		CUB domain containing protein 2							72	66	68					1																	54606931		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54606931G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.603C>T	1.37:g.54606931G>A						RP11-446E24.4_ENST00000525949.1_5'UTR	p.D201D	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			3	1450	-			201			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.603C>T	CCDS588.2																																																																																				0.662	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		49	209	0	0	0	1	0	49	209					A	54606931	G	A	54606931	2	1	79	1	0	0	0	0	0	0	0	1	3103	1020	36	2		2	CDCP2	1	54606931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88220	54606931	194643690	638	10955											
CYB5RL	606495	broad.mit.edu	37	chr1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggagtcctcagtgaggcCtgcgcacagtaagcacctgg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000534324.1	-	6	915	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|RP11-446E24.4_ENST00000311841.7_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|AL357673.1_ENST00000536061.1_5'Flank			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	306							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557																																						ENST00000419823.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						c.(916-918)Ggc>Agc		cytochrome b5 reductase-like							38	41	40					1																	54640324		1987	4173	6160	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54640324C>T		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.916G>A	1.37:g.54640324C>T	ENSP00000434343:p.Gly306Ser					RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000534324.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S	p.G306S	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN			7	1140	-			306					B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.916G>A	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936381	0.92458	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.96619	-2.78;-4.07;-2.78;-2.96;-2.78;-2.96	5.14	5.14	0.70334	.	0.000000	0.39544	U	0.001321	D	0.96210	0.8764	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.74674	0.921;0.984	D	0.96630	0.9466	10	0.54805	T	0.06	-19.7195	16.9666	0.86287	0.0:1.0:0.0:0.0	.	306;158	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	306;158;306;238;306;238	ENSP00000409075:G306S;ENSP00000383825:G158S;ENSP00000434343:G306S;ENSP00000287899:G238S;ENSP00000438151:G306S;ENSP00000443797:G238S	ENSP00000287899:G238S	G	-	1	0	CYB5RL	54412912	0.999000	0.42202	0.960000	0.40013	0.863000	0.49368	5.162000	0.64942	2.672000	0.90937	0.555000	0.69702	GGC		0.557	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		5	77	0	0	0	1	0	5	77					T	54640324	C	T	54640324	3	4	79	1	0	0	0	0	1	0	0	0	4141	681	24	2	35	2	CYB5RL	1	54640324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33393	54640324	194610297	639	10956											
MRPL37	51253	broad.mit.edu	37	chr1	54670848	54670848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctctggcagaccactgaGgaaatccccaagagagagac	11	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000360840.5	+	2	581	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000605337.1_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	168					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGACCACTGAGGAAATCCCCA	0.473																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(502-504)gaG>gaA		mitochondrial ribosomal protein L37							93	91	92					1																	54670848		2203	4300	6503	SO:0001819	synonymous_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54670848G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.504G>A	1.37:g.54670848G>A						MRPL37_ENST00000360840.5_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron	p.E168E			Q9BZE1	RM37_HUMAN			2	552	+			168					Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	c.504G>A	CCDS589.1																																																																																				0.473	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		71	267	0	0	0	1	0	71	267					A	54670848	G	A	54670848	2	1	79	1	0	0	0	0	0	0	0	1	9841	991	35	2		2	MRPL37	1	54670848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30524	54670848	194579773	640	10957											
FAM151A	338094	broad.mit.edu	37	chr1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccccaacccacacaggCcaatgcaagaggccaaggct	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	439						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1315-1317)tgG>tgA		family with sequence similarity 151, member A							37	40	39					1																	55075382		2203	4300	6503	SO:0001587	stop_gained	338094					integral to membrane		g.chr1:55075382C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1317G>A	1.37:g.55075382C>T	ENSP00000306888:p.Trp439*					ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	p.W439*	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1477	-			439					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Nonsense_Mutation	SNP	ENST00000302250.2	37	c.1317G>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643285	0.67244	.	.	ENSG00000162391	ENST00000302250	.	.	.	4.17	0.174	0.15040	.	0.890365	0.09587	N	0.782015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.8283	0.8298	0.01128	0.166:0.3896:0.1617:0.2827	.	.	.	.	X	439	.	ENSP00000306888:W439X	W	-	3	0	FAM151A	54847970	0.018000	0.18449	0.195000	0.23364	0.279000	0.26890	-0.118000	0.10692	0.040000	0.15660	-0.137000	0.14449	TGG		0.637	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		50	215	0	0	0	1	0	50	215					T	55075382	C	T	55075382	4	4	79	1	0	0	0	0	0	1	0	0	5479	740	26	2	444	2	FAM151A	1	55075382	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404534	55075382	194175239	641	10958											
FAM151A	338094	broad.mit.edu	37	chr1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccatatgggccgccggaCtttgccttcctctgtcagct	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	166						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(496-498)Gtc>Atc		family with sequence similarity 151, member A							118	98	105					1																	55080452		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55080452C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.496G>A	1.37:g.55080452C>T	ENSP00000306888:p.Val166Ile					FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I|ACOT11_ENST00000371316.3_Intron	p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			4	656	-			166					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.496G>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.257499	0.01457	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.81	3.6	0.589	0.17452	.	0.233360	0.31246	N	0.007982	T	0.03477	0.0100	N	0.05078	-0.115	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.44982	-0.9292	10	0.06236	T	0.91	-17.4804	5.7578	0.18182	0.0:0.3913:0.0:0.6087	.	166	Q8WW52	F151A_HUMAN	I	166	ENSP00000306888:V166I;ENSP00000360353:V166I	ENSP00000294370:V166I	V	-	1	0	FAM151A	54853040	0.100000	0.21855	0.040000	0.18447	0.064000	0.16182	0.299000	0.19138	0.294000	0.22547	0.462000	0.41574	GTC		0.557	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		62	179	0	0	0	1	0	62	179					T	55080452	C	T	55080452	3	4	79	1	0	0	0	0	1	0	0	0	5479	565	20	2	1281	2	FAM151A	1	55080452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	55080452	194170169	642	10959											
C1orf175	374977	broad.mit.edu	37	chr1	55136215	55136215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctctctcaagctccgtcCgcaagcaggccatggagatc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55136215C>T	ENST00000421030.2	+	6	1720	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	MROH7_ENST00000395690.2_Missense_Mutation_p.R479C|MROH7_ENST00000545244.1_Missense_Mutation_p.R47C|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R479C|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.R479C|MROH7_ENST00000409996.1_Missense_Mutation_p.R47C	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	479						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AAGCTCCGTCCGCAAGCAGGC	0.632																																						ENST00000414150.2																			0											c.(1435-1437)Cgc>Tgc		maestro heat-like repeat family member 7							41	47	45					1																	55136215		2066	4180	6246	SO:0001583	missense	374977							g.chr1:55136215C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1435C>T	1.37:g.55136215C>T	ENSP00000396622:p.Arg479Cys					MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000409996.1_Missense_Mutation_p.R47C|MROH7_ENST00000339553.5_Missense_Mutation_p.R479C|MROH7_ENST00000421030.2_Missense_Mutation_p.R479C|MROH7_ENST00000545244.1_Missense_Mutation_p.R47C|MROH7_ENST00000395690.2_Missense_Mutation_p.R479C	p.R479C							6	1713	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1435C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317774	0.60524	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000395690	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	4.81	3.89	0.44902	Armadillo-like helical (1);	0.298550	0.24037	N	0.042128	T	0.69771	0.3148	M	0.78049	2.395	0.21604	N	0.999622	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.60444	-0.7262	10	0.87932	D	0	-14.4809	10.1245	0.42641	0.0:0.9015:0.0:0.0985	.	479;479;47	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	C	479;47;504;479;47;479	ENSP00000396622:R479C;ENSP00000442333:R47C;ENSP00000343211:R479C;ENSP00000387048:R47C;ENSP00000379044:R479C	ENSP00000343211:R479C	R	+	1	0	HEATR8	54908803	0.056000	0.20664	0.360000	0.25837	0.914000	0.54420	2.084000	0.41625	2.215000	0.71742	0.456000	0.33151	CGC		0.632	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		17	97	0	0	0	1	0	17	97					T	55136215	C	T	55136215	3	4	79	1	0	0	0	0	1	0	0	0	2023	652	23	1	1449	1	C1orf175	1	55136215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55763	55136215	194114406	643	10960											
C1orf175	374977	broad.mit.edu	37	chr1	55144999	55144999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggccgccctggaagggCtgaaaggcagctcagaggct	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55144999C>A	ENST00000421030.2	+	12	2398	c.2113C>A	c.(2113-2115)Ctg>Atg	p.L705M	MROH7_ENST00000395690.2_Missense_Mutation_p.L705M|MROH7_ENST00000545244.1_Missense_Mutation_p.L273M|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L705M|MROH7_ENST00000454855.2_Missense_Mutation_p.L223M|MROH7_ENST00000339553.5_Missense_Mutation_p.L705M|MROH7_ENST00000409996.1_Missense_Mutation_p.L273M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	705						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTGGAAGGGCTGAAAGGCAG	0.592																																						ENST00000414150.2																			0											c.(2113-2115)Ctg>Atg		maestro heat-like repeat family member 7							66	73	71					1																	55144999		1956	4151	6107	SO:0001583	missense	374977							g.chr1:55144999C>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2113C>A	1.37:g.55144999C>A	ENSP00000396622:p.Leu705Met					MROH7_ENST00000454855.2_Missense_Mutation_p.L223M|MROH7_ENST00000409996.1_Missense_Mutation_p.L273M|MROH7_ENST00000339553.5_Missense_Mutation_p.L705M|MROH7_ENST00000421030.2_Missense_Mutation_p.L705M|MROH7_ENST00000545244.1_Missense_Mutation_p.L273M|MROH7_ENST00000395690.2_Missense_Mutation_p.L705M	p.L705M							12	2391	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2113C>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	9.400	1.077749	0.20227	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	4.88	1.85	0.25348	.	0.178026	0.26377	N	0.024738	T	0.50888	0.1642	L	0.60455	1.87	0.20821	N	0.999847	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.987;0.995;0.983	T	0.41680	-0.9495	10	0.56958	D	0.05	-9.1048	9.4812	0.38902	0.0:0.7224:0.0:0.2776	.	705;705;273	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	705;273;734;705;273;223;705	ENSP00000396622:L705M;ENSP00000442333:L273M;ENSP00000343211:L705M;ENSP00000387048:L273M;ENSP00000401130:L223M;ENSP00000379044:L705M	ENSP00000343211:L705M	L	+	1	2	HEATR8	54917587	0.998000	0.40836	0.332000	0.25469	0.137000	0.21094	0.514000	0.22786	-0.128000	0.11641	-1.151000	0.01829	CTG		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		29	560	1	0	2.65835e-16	1	2.91905e-16	29	560					A	55144999	C	A	55144999	3	1	79	1	0	0	0	0	1	0	0	0	2023	796	28	3	2151	3	C1orf175	1	55144999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8784	55144999	194105622	644	10961											
TTC4	7268	broad.mit.edu	37	chr1	55194081	55194081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagaggaatcagaaTgaggctttactccaggccat	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371281.3	+	6	744	c.657T>C	c.(655-657)aaT>aaC	p.N219N	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	219										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(655-657)aaT>aaC		tetratricopeptide repeat domain 4							118	121	120					1																	55194081		2203	4300	6503	SO:0001819	synonymous_variant	7268						binding	g.chr1:55194081T>C		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.657T>C	1.37:g.55194081T>C						TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.N219N	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			6	744	+			219					Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	c.657T>C	CCDS596.1																																																																																				0.408	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		18	115	0	0	0	1	0	18	115					C	55194081	T	C	55194081	2	2	79	1	0	0	0	0	0	0	0	1	16764	1461	51	4		4	TTC4	1	55194081	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49082	55194081	194056540	645	10962											
PARS2	25973	broad.mit.edu	37	chr1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcccccgatggcctgcatCtcctggtctatcactcgcac	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	108					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(322-324)gaG>gaT		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						77	76	76					1																	55224511		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224511C>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.324G>T	1.37:g.55224511C>A	ENSP00000360327:p.Glu108Asp						p.E108D	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	406	-			108					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.324G>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580642	0.65992	.	.	ENSG00000162396	ENST00000371279	T	0.80566	-1.39	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.065947	0.64402	D	0.000010	D	0.91563	0.7335	H	0.96889	3.9	0.53688	D	0.999977	D	0.56035	0.974	D	0.63381	0.914	D	0.93020	0.6439	10	0.72032	D	0.01	-24.8229	9.9672	0.41732	0.0:0.7824:0.1404:0.0772	.	108	Q7L3T8	SYPM_HUMAN	D	108	ENSP00000360327:E108D	ENSP00000360327:E108D	E	-	3	2	PARS2	54997099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.534000	0.45676	2.310000	0.77875	0.563000	0.77884	GAG		0.617	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		113	372	1	0	4.70087e-54	1	5.86491e-54	113	372					A	55224511	C	A	55224511	3	1	79	1	0	0	0	0	1	0	0	0	11509	912	32	3	1107	3	PARS2	1	55224511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30430	55224511	194026110	646	10963											
DHCR24	1718	broad.mit.edu	37	chr1	55319794	55319794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccacgtggtgctgctcGtacagcttgcgcagggtctc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000535035.1_Silent_p.Y337Y|DHCR24_ENST00000537443.1_Silent_p.Y162Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	378					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1132-1134)taC>taT		24-dehydrocholesterol reductase							78	73	75					1																	55319794		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55319794G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1134C>T	1.37:g.55319794G>A						DHCR24_ENST00000537443.1_Silent_p.Y162Y|DHCR24_ENST00000535035.1_Silent_p.Y337Y	p.Y378Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			7	1232	-			378					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.1134C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093682	0.20471	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6313	13.0848	0.59133	0.6011:0.0:0.3989:0.0	.	.	.	.	X	16	.	.	R	-	1	2	DHCR24	55092382	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-1.693000	0.01917	-0.305000	0.08831	0.561000	0.74099	CGA		0.607	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		38	131	0	0	0	1	0	38	131					A	55319794	G	A	55319794	2	1	79	1	0	0	0	0	0	0	0	1	4492	1140	40	1		1	DHCR24	1	55319794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95283	55319794	193930827	647	10964											
PCSK9	255738	broad.mit.edu	37	chr1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccctgcaccaggcattGcagccatgatgctgtctgcc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	396	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1186-1188)Gca>Aca		proprotein convertase subtilisin/kexin type 9							66	61	63					1																	55523714		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523714G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1186G>A	1.37:g.55523714G>A	ENSP00000303208:p.Ala396Thr					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T	p.A396T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1476	+			396			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1186G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640571	0.47153	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.39	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.376195	0.24873	N	0.034901	D	0.89357	0.6692	M	0.83953	2.67	0.09310	N	1	P	0.45283	0.855	B	0.43331	0.416	T	0.82133	-0.0608	10	0.56958	D	0.05	-1.1614	11.0881	0.48099	0.0:0.1384:0.7179:0.1437	.	396	Q8NBP7	PCSK9_HUMAN	T	396;196	ENSP00000303208:A396T;ENSP00000441859:A196T	ENSP00000303208:A396T	A	+	1	0	PCSK9	55296302	0.511000	0.26179	0.003000	0.11579	0.118000	0.20060	3.058000	0.49939	0.380000	0.24823	0.563000	0.77884	GCA		0.592	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		40	448	0	0	0	1	0	40	448					A	55523714	G	A	55523714	3	1	79	1	0	0	0	0	1	0	0	0	11648	1319	46	2	1216	2	PCSK9	1	55523714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203920	55523714	193726907	648	10965											
USP24	23358	broad.mit.edu	37	chr1	55563334	55563334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacccaaatctcattagGtgaattaccaagacgctagg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1884	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATCTCATTAGGTGAATTACCA	0.338																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5650-5652)caC>caT		ubiquitin specific peptidase 24							39	36	37					1																	55563334		1802	4065	5867	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563334G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5652C>T	1.37:g.55563334G>A						USP24_ENST00000407756.1_Silent_p.H1724H	p.H1884H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			48	5651	-			1884					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5652C>T	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	37	0	0	0	1	0	4	37					A	55563334	G	A	55563334	2	1	79	1	0	0	0	0	0	0	0	1	17109	1252	44	2		2	USP24	1	55563334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39620	55563334	193687287	649	10966											
USP24	23358	broad.mit.edu	37	chr1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcaggctggtgatgcataGaaagcagttcttttataata	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1661					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGATGCATAGAAAGCAGTTC	0.378																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4981-4983)tCt>tAt		ubiquitin specific peptidase 24							59	57	58					1																	55569592		1842	4092	5934	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55569592G>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4982C>A	1.37:g.55569592G>T	ENSP00000294383:p.Ser1661Tyr					USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	p.S1661Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			42	4981	-			1661					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4982C>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410228	0.62399	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67698	-0.28;-0.28	6.05	6.05	0.98169	.	0.111807	0.64402	D	0.000006	T	0.57140	0.2033	L	0.34521	1.04	0.51767	D	0.999936	P	0.37398	0.593	B	0.30943	0.122	T	0.61481	-0.7054	10	0.66056	D	0.02	.	18.7818	0.91937	0.0:0.0:1.0:0.0	.	1501	B7WPF4	.	Y	1661;1501	ENSP00000294383:S1661Y;ENSP00000385700:S1501Y	ENSP00000294383:S1661Y	S	-	2	0	USP24	55342180	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.502000	0.81614	2.878000	0.98634	0.650000	0.86243	TCT		0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			12	66	1	0	1.5739e-10	1	1.67034e-10	12	66					T	55569592	G	T	55569592	3	4	79	1	0	0	0	0	1	0	0	0	17109	942	33	3	2988	3	USP24	1	55569592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6258	55569592	193681029	650	10967											
USP24	23358	broad.mit.edu	37	chr1	55589226	55589226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcgaacacagattccCgcatgcagggctactggttc	11	11	0	1	rs373311667		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1390					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A1390A(1)|p.A1307A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGATTCCCGCATGCAGGG	0.493																																						ENST00000294383.6																			2	Substitution - coding silent(2)	p.A1390A(1)|p.A1307A(1)	lung(2)	breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4168-4170)gcG>gcA		ubiquitin specific peptidase 24		T		0,3840		0,0,1920	65	63	64		4170	-9.6	0.5	1		64	1,8259		0,1,4129	no	coding-synonymous	USP24	NM_015306.2		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		1390/2621	55589226	1,12099	1920	4130	6050	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55589226C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4170G>A	1.37:g.55589226C>T						USP24_ENST00000407756.1_Silent_p.A1230A	p.A1390A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			36	4169	-			1390					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.4170G>A	CCDS44154.2																																																																																				0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			13	45	0	0	0	1	0	13	45					T	55589226	C	T	55589226	2	4	79	1	0	0	0	0	0	0	0	1	17109	639	23	1		1	USP24	1	55589226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19634	55589226	193661395	651	10968											
USP24	23358	broad.mit.edu	37	chr1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatgagaacaaacaaatGattaagctgatctgaattaa	7	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	511					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACAAACAAATGATTAAGCTGA	0.363																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1531-1533)Cat>Aat		ubiquitin specific peptidase 24							92	85	87					1																	55620367		1824	4079	5903	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55620367G>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1531C>A	1.37:g.55620367G>T	ENSP00000294383:p.His511Asn					USP24_ENST00000407756.1_Missense_Mutation_p.H399N	p.H511N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			13	1530	-			511					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.1531C>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589352	0.86851	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.68593	2.085	0.52099	D	0.999946	P	0.45126	0.851	P	0.58391	0.838	D	0.85825	0.1388	10	0.54805	T	0.06	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	399	B7WPF4	.	N	511;399	ENSP00000294383:H511N;ENSP00000385700:H399N	ENSP00000294383:H511N	H	-	1	0	USP24	55392955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.708000	0.92522	0.650000	0.86243	CAT		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			10	117	1	0	0.000442599	1	0.000448314	10	117					T	55620367	G	T	55620367	3	4	79	1	0	0	0	0	1	0	0	0	17109	1290	45	3	6555	3	USP24	1	55620367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31141	55620367	193630254	652	10969											
PPAP2B	8613	broad.mit.edu	37	chr1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgcgagacagtcccgtgTagaaggccatcatgatcaag	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	240					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(718-720)tAc>tGc		phosphatidic acid phosphatase type 2B							88	81	84					1																	56977739		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56977739T>C	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.719A>G	1.37:g.56977739T>C	ENSP00000360296:p.Tyr240Cys					PPAP2B_ENST00000459962.1_5'UTR	p.Y240C	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			5	1270	-			240					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.719A>G	CCDS604.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692869	0.88735	.	.	ENSG00000162407	ENST00000371250	T	0.74209	-0.82	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.169906	0.52532	D	0.000069	D	0.86859	0.6034	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88431	0.3035	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	240	O14495	LPP3_HUMAN	C	240	ENSP00000360296:Y240C	ENSP00000360296:Y240C	Y	-	2	0	PPAP2B	56750327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	TAC		0.582	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		27	250	0	0	0	1	0	27	250					C	56977739	T	C	56977739	3	2	79	1	0	0	0	0	1	0	0	0	12333	1638	57	4	224	4	PPAP2B	1	56977739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1357372	56977739	192272882	653	10970											
PPAP2B	8613	broad.mit.edu	37	chr1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagtgaggacgcaggcGccctatggacactttggcaa	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	153					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(457-459)Cgc>Tgc		phosphatidic acid phosphatase type 2B							132	134	134					1																	56990067		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56990067G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.457C>T	1.37:g.56990067G>A	ENSP00000360296:p.Arg153Cys						p.R153C	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			3	1008	-			153					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.457C>T	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221226	0.95139	.	.	ENSG00000162407	ENST00000371250	D	0.82711	-1.64	5.7	5.7	0.88788	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	153	O14495	LPP3_HUMAN	C	153	ENSP00000360296:R153C	ENSP00000360296:R153C	R	-	1	0	PPAP2B	56762655	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.776000	0.99001	2.679000	0.91253	0.655000	0.94253	CGC		0.517	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		69	554	0	0	0	1	0	69	554					A	56990067	G	A	56990067	3	1	79	1	0	0	0	0	1	0	0	0	12333	1087	38	1	494	1	PPAP2B	1	56990067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12328	56990067	192260554	654	10971											
PRKAA2	5563	broad.mit.edu	37	chr1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattatggctgaagtttacCgagctatgaagcagctggat	11	7	0	2	rs574007984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGAAGTTTACCGAGCTATGAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.001					ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1261-1263)Cga>Tga		protein kinase, AMP-activated, alpha 2 catalytic subunit							88	91	90					1																	57170116		2203	4300	6503	SO:0001587	stop_gained	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57170116C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1261C>T	1.37:g.57170116C>T	ENSP00000360290:p.Arg421*						p.R421*	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1327	+			421					Q9H1E8|Q9UD43	Nonsense_Mutation	SNP	ENST00000371244.4	37	c.1261C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	38	6.757115	0.97817	.	.	ENSG00000162409	ENST00000371244	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5127	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000360290:R421X	R	+	1	2	PRKAA2	56942704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.170000	0.42443	2.941000	0.99782	0.655000	0.94253	CGA		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		100	408	0	0	0	1	0	100	408					T	57170116	C	T	57170116	4	4	79	1	0	0	0	0	0	1	0	0	12541	644	23	1	1287	1	PRKAA2	1	57170116	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180049	57170116	192080505	655	10972											
C8A	731	broad.mit.edu	37	chr1	57340669	57340669	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaagtttgggggaaccatCtgcagtggtgacatctggga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	73	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGGAACCATCTGCAGTGGTG	0.478																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(217-219)atC>atT		complement component 8, alpha polypeptide							88	82	84					1																	57340669		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57340669C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.219C>T	1.37:g.57340669C>T							p.I73I	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			3	315	+			73			TSP type-1 1.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.219C>T	CCDS606.1																																																																																				0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		14	136	0	0	0	1	0	14	136					T	57340669	C	T	57340669	2	4	79	1	0	0	0	0	0	0	0	1	2423	903	32	2		2	C8A	1	57340669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170553	57340669	191909952	656	10973											
C8A	731	broad.mit.edu	37	chr1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggaattcaatgcctgccGatgtgggccttgcttcaaca	11	10	2	0	rs559111946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	498	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R498Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17985	0.0		0.001	False		,,,				2504	0.0					ENST00000361249.3																			1	Substitution - Missense(1)	p.R498Q(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1492-1494)cGa>cAa		complement component 8, alpha polypeptide							89	92	91					1																	57378188		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378188G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1493G>A	1.37:g.57378188G>A	ENSP00000354458:p.Arg498Gln						p.R498Q	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1589	+			498			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1493G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020350	0.93462	.	.	ENSG00000157131	ENST00000361249	D	0.86562	-2.14	5.73	5.73	0.89815	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93131	0.6533	10	0.62326	D	0.03	-18.9819	18.0789	0.89436	0.0:0.0:1.0:0.0	.	498	P07357	CO8A_HUMAN	Q	498	ENSP00000354458:R498Q	ENSP00000354458:R498Q	R	+	2	0	C8A	57150776	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.424000	0.80242	2.713000	0.92767	0.655000	0.94253	CGA		0.632	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		145	512	0	0	0	1	0	145	512					A	57378188	G	A	57378188	3	1	79	1	0	0	0	0	1	0	0	0	2423	1058	37	1	1531	1	C8A	1	57378188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37519	57378188	191872433	657	10974											
C8A	731	broad.mit.edu	37	chr1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaaaggagaagagagTgtgacaatccagcacctcag	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	562	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAAGAGAGTGTGACAATCC	0.577																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1684-1686)Tgt>Ggt		complement component 8, alpha polypeptide							68	67	67					1																	57383318		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383318T>G	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1684T>G	1.37:g.57383318T>G	ENSP00000354458:p.Cys562Gly						p.C562G	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			11	1780	+			562			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1684T>G	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547329	0.65311	.	.	ENSG00000157131	ENST00000361249	T	0.25912	1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	H	0.99600	4.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82692	-0.0331	10	0.87932	D	0	-16.2378	13.1014	0.59222	0.0:0.0:0.0:1.0	.	562	P07357	CO8A_HUMAN	G	562	ENSP00000354458:C562G	ENSP00000354458:C562G	C	+	1	0	C8A	57155906	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.767000	0.68850	2.012000	0.59069	0.460000	0.39030	TGT		0.577	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		19	250	0	0	0	1	0	19	250					G	57383318	T	G	57383318	3	3	79	1	0	0	0	0	1	0	0	0	2423	1696	59	4	1726	4	C8A	1	57383318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5130	57383318	191867303	658	10975											
OMA1	115209	broad.mit.edu	37	chr1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccggagcagcttgaaacCgtggagaagtatggaaattc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	141					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(421-423)cGg>cAg		OMA1 zinc metallopeptidase							130	135	133					1																	59004545		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004545C>T	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.422G>A	1.37:g.59004545C>T	ENSP00000360270:p.Arg141Gln					OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	p.R141Q	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	535	-	all_cancers(7;6.54e-05)		141					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.422G>A	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310058	0.60414	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33654	2.47;2.48;1.85;1.83;1.83;1.4	5.35	-0.103	0.13609	.	0.705120	0.13458	N	0.386390	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.33739	0.185;0.422	B;B	0.25506	0.021;0.061	T	0.15407	-1.0438	9	.	.	.	-0.1038	7.6729	0.28470	0.0:0.3024:0.4728:0.2248	.	141;141	Q96E52;Q96E52-2	OMA1_HUMAN;.	Q	141	ENSP00000351417:R141Q;ENSP00000360270:R141Q;ENSP00000395053:R141Q;ENSP00000409589:R141Q;ENSP00000416495:R141Q;ENSP00000392978:R141Q	.	R	-	2	0	OMA1	58777133	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.072000	0.11486	0.164000	0.19529	0.655000	0.94253	CGG		0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		65	583	0	0	0	1	0	65	583					T	59004545	C	T	59004545	3	4	79	1	0	0	0	0	1	0	0	0	10906	652	23	1	1184	1	OMA1	1	59004545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621227	59004545	190246076	659	10976											
FGGY	55277	broad.mit.edu	37	chr1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctgcgcaggcatgcCtgtggtcctgtcgcaagagg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000303721.7	+	14	1598	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371218.4_Missense_Mutation_p.P499L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	475					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1495-1497)cCt>cTt		FGGY carbohydrate kinase domain containing							195	126	149					1																	60139717		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60139717C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1424C>T	1.37:g.60139717C>T	ENSP00000305922:p.Pro475Leu					FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000303721.7_Missense_Mutation_p.P475L|FGGY_ENST00000371212.1_Missense_Mutation_p.P387L	p.P499L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			15	1680	+	all_cancers(7;7.36e-05)		475					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.1496C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707696	0.89018	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.55	5.55	0.83447	Carbohydrate kinase, FGGY, C-terminal (1);	0.053130	0.85682	D	0.000000	D	0.96626	0.8899	H	0.96333	3.805	0.80722	D	1	D;P;D;P	0.89917	1.0;0.85;1.0;0.91	D;P;D;P	0.97110	1.0;0.599;1.0;0.737	D	0.97244	0.9893	9	.	.	.	-9.9795	19.6873	0.95984	0.0:1.0:0.0:0.0	.	499;387;475;475	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	499;475;387;176	ENSP00000360262:P499L;ENSP00000305922:P475L;ENSP00000360256:P387L;ENSP00000360254:P176L	.	P	+	2	0	FGGY	59912305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.890000	0.99128	0.585000	0.79938	CCT		0.582	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		13	75	0	0	0	1	0	13	75					T	60139717	C	T	60139717	3	4	79	1	0	0	0	0	1	0	0	0	5896	681	24	2	1550	2	FGGY	1	60139717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135172	60139717	189110904	660	10977											
HOOK1	51361	broad.mit.edu	37	chr1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactcacagaggtccatgaaGaattacagaagaaacaagaa	8	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	563					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1687-1689)Gaa>Taa		hook microtubule-tethering protein 1							72	74	73					1																	60330860		2203	4300	6503	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60330860G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1687G>T	1.37:g.60330860G>T	ENSP00000360252:p.Glu563*					HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	p.E563*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			18	1944	+	all_cancers(7;0.000129)		563					A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1687G>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.638907	0.99226	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	.	0.047134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	563;521	.	ENSP00000360252:E563X	E	+	1	0	HOOK1	60103448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.881000	0.98747	0.650000	0.86243	GAA		0.383	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		25	197	1	0	2.4375e-19	1	2.7179e-19	25	197					T	60330860	G	T	60330860	4	4	79	1	0	0	0	0	0	1	0	0	7312	943	33	3	1757	3	HOOK1	1	60330860	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191143	60330860	188919761	661	10978											
CYP2J2	1573	broad.mit.edu	37	chr1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A													ttctttcctaaaccaaagttCcttagtgctgtcagagtgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AACCAAAGTTCCTTAGTGCTG	0.438																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(436-438)agG>agT		cytochrome P450, family 2, subfamily J, polypeptide 2							204	168	180					1																	60377919		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377919C>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.438G>T	1.37:g.60377919C>A	ENSP00000360247:p.Arg146Ser					CYP2J2_ENST00000492633.1_5'UTR	p.R146S	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	481	-	all_cancers(7;0.000396)		146					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.438G>T	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404074	0.62288	.	.	ENSG00000134716	ENST00000371204	T	0.76578	-1.03	5.85	4.94	0.65067	.	0.045766	0.85682	D	0.000000	D	0.89567	0.6752	H	0.94658	3.565	0.40386	D	0.979495	D	0.60575	0.988	D	0.64595	0.927	D	0.91533	0.5244	10	0.87932	D	0	.	10.1236	0.42637	0.0:0.8462:0.0:0.1538	.	146	P51589	CP2J2_HUMAN	S	146	ENSP00000360247:R146S	ENSP00000360247:R146S	R	-	3	2	CYP2J2	60150507	0.302000	0.24454	0.994000	0.49952	0.775000	0.43874	-0.146000	0.10250	1.491000	0.48482	-0.136000	0.14681	AGG		0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		49	505	1	0	5.73435e-26	1	6.59582e-26	49	505					A	60377919	C	A	60377919	3	1	79	1	0	0	0	0	1	0	0	0	4183	854	30	3	1098	3	CYP2J2	1	60377919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47059	60377919	188872702	662	10979	70	2									
CYP2J2	1573	broad.mit.edu	37	chr1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T													taaaccaaagttccttagtgCtgtcagagtgaaccttcttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	144					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TTCCTTAGTGCTGTCAGAGTG	0.438																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(430-432)Gca>Aca		cytochrome P450, family 2, subfamily J, polypeptide 2							202	169	180					1																	60377927		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377927C>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.430G>A	1.37:g.60377927C>T	ENSP00000360247:p.Ala144Thr					CYP2J2_ENST00000492633.1_5'UTR	p.A144T	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	473	-	all_cancers(7;0.000396)		144					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.430G>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860623	0.02610	.	.	ENSG00000134716	ENST00000371204	T	0.67171	-0.25	5.85	3.59	0.41128	.	0.155125	0.56097	N	0.000022	T	0.25938	0.0632	N	0.00560	-1.38	0.19775	N	0.999956	B	0.02656	0.0	B	0.08055	0.003	T	0.36237	-0.9756	10	0.02654	T	1	.	7.9599	0.30066	0.0:0.1789:0.0:0.8211	.	144	P51589	CP2J2_HUMAN	T	144	ENSP00000360247:A144T	ENSP00000360247:A144T	A	-	1	0	CYP2J2	60150515	0.862000	0.29867	0.204000	0.23530	0.488000	0.33401	1.207000	0.32333	0.514000	0.28300	0.655000	0.94253	GCA		0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		54	550	0	0	0	1	0	54	550					T	60377927	C	T	60377927	3	4	79	1	0	0	0	0	1	0	0	0	4183	797	28	2	1106	2	CYP2J2	1	60377927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	60377927	188872694	663	10980	70	2									
CYP2J2	1573	broad.mit.edu	37	chr1	60392254	60392254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagtccacaaggaagaaGttgccaaggaagggcaggcg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	ENST00000371204.3	-	1	208	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	55					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CAAGGAAGAAGTTGCCAAGGA	0.592																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(163-165)aaC>aaT		cytochrome P450, family 2, subfamily J, polypeptide 2							64	70	68					1																	60392254		2203	4300	6503	SO:0001819	synonymous_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60392254G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.165C>T	1.37:g.60392254G>A							p.N55N	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			1	208	-	all_cancers(7;0.000396)		55					B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	37	c.165C>T	CCDS613.1																																																																																				0.592	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		19	483	0	0	0	1	0	19	483					A	60392254	G	A	60392254	2	1	79	1	0	0	0	0	0	0	0	1	4183	1020	36	2		2	CYP2J2	1	60392254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14327	60392254	188858367	664	10981											
INADL	10207	broad.mit.edu	37	chr1	62366960	62366960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcctttatatagtgttgaGatttttagagaacccaatgt	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1070	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGTGTTGAGATTTTTAGAG	0.338																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3208-3210)gaG>gaA		InaD-like (Drosophila)							85	90	88					1																	62366960		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62366960G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3210G>A	1.37:g.62366960G>A						INADL_ENST00000316485.6_Silent_p.E1070E	p.E1070E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			24	3324	+			1070			PDZ 6.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.3210G>A	CCDS617.2																																																																																				0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		32	255	0	0	0	1	0	32	255					A	62366960	G	A	62366960	2	1	79	1	0	0	0	0	0	0	0	1	7761	933	33	2		2	INADL	1	62366960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1974706	62366960	186883661	665	10982											
KANK4	163782	broad.mit.edu	37	chr1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcagtggagaggaagCtatgtacagaggaggtaagg	17	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	493						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1477-1479)aGc>aTc		KN motif and ankyrin repeat domains 4							96	97	97					1																	62739298		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739298C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1478G>T	1.37:g.62739298C>A	ENSP00000360195:p.Ser493Ile					KANK4_ENST00000354381.3_Intron	p.S493I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1856	-			493					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1478G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305397	0.60305	.	.	ENSG00000132854	ENST00000371153	T	0.50277	0.75	4.63	4.63	0.57726	.	0.000000	0.45126	D	0.000394	T	0.64193	0.2576	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65985	-0.6035	10	0.62326	D	0.03	-21.4958	13.195	0.59732	0.0:1.0:0.0:0.0	.	493	Q5T7N3	KANK4_HUMAN	I	493	ENSP00000360195:S493I	ENSP00000360195:S493I	S	-	2	0	KANK4	62511886	0.999000	0.42202	0.996000	0.52242	0.365000	0.29674	2.290000	0.43531	2.563000	0.86464	0.655000	0.94253	AGC		0.577	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		122	425	1	0	7.79638e-53	1	9.70434e-53	122	425					A	62739298	C	A	62739298	3	1	79	1	0	0	0	0	1	0	0	0	8009	797	28	3	1541	3	KANK4	1	62739298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372338	62739298	186511323	666	10983											
DOCK7	85440	broad.mit.edu	37	chr1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgtacagtacatgaatcGacgaagattgtaatttttgt	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000340370.5	-	45	5742	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1940	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATGAATCGACGAAGATTG	0.403																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5785-5787)Cga>Tga		dedicator of cytokinesis 7							167	161	163					1																	62941521		2203	4299	6502	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941521G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5725C>T	1.37:g.62941521G>A	ENSP00000340742:p.Arg1909*					DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R1909*|DOCK7_ENST00000489185.1_5'UTR	p.R1929*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5818	-			1940			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.5785C>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.097485|13.097485	0.99719|0.99719	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79598	.|0.4473	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77768	.|-0.2464	.|3	0.02654|.	T|.	1|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1940;1929;1909;670|1102	.|.	ENSP00000251157:R1929X|.	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62714109|62714109	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.922000|0.922000	0.55478|0.55478	8.004000|8.004000	0.88535|0.88535	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		55	486	0	0	0	1	0	55	486					A	62941521	G	A	62941521	4	1	79	1	0	0	0	0	0	1	0	0	4708	1066	37	1	624	1	DOCK7	1	62941521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202223	62941521	186309100	667	10984											
DOCK7	85440	broad.mit.edu	37	chr1	62953075	62953075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaacattacctacctcccaGccagtactctgtataataaa	3	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1834	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTACCTCCCAGCCAGTACTCT	0.348																																						ENST00000340370.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5407-5409)ggC>ggA		dedicator of cytokinesis 7							67	73	71					1																	62953075		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62953075G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5409C>A	1.37:g.62953075G>T						DOCK7_ENST00000251157.5_Intron	p.G1803G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN			42	5426	-			1834			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.5409C>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695324	0.15106	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.76219	0.3957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	.	19.5557	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	M	997	.	.	L	-	1	2	DOCK7	62725663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.628000	0.89032	0.586000	0.80456	CTG		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		19	281	1	0	1.33834e-09	1	1.40959e-09	19	281					T	62953075	G	T	62953075	2	4	79	1	0	0	0	0	0	0	0	1	4708	958	34	3		3	DOCK7	1	62953075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11554	62953075	186297546	668	10985											
ANGPTL3	27329	broad.mit.edu	37	chr1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcccggaaaacaaagatTtggtgttttctacttgggat	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	379	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373																																						ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(1135-1137)Ttg>Gtg		angiopoietin-like 3							108	111	110					1																	63069843		2203	4300	6503	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63069843T>G	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"Fibrinogen C domain containing"	491	protein-coding gene	gene with protein product	"angiopoietin 5"	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.1135T>G	1.37:g.63069843T>G	ENSP00000360170:p.Leu379Val					DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000404627.2_Intron	p.L379V	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			6	1215	+			379			Fibrinogen C-terminal.		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.1135T>G	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923441	0.52653	.	.	ENSG00000132855	ENST00000371129	T	0.76578	-1.03	5.6	2.01	0.26516	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.098369	0.64402	D	0.000002	T	0.53190	0.1781	L	0.41906	1.305	0.33659	D	0.60952	P	0.51791	0.948	P	0.50570	0.644	T	0.50233	-0.8852	10	0.15952	T	0.53	.	3.4284	0.07420	0.2153:0.4539:0.0:0.3307	.	379	Q9Y5C1	ANGL3_HUMAN	V	379	ENSP00000360170:L379V	ENSP00000360170:L379V	L	+	1	2	ANGPTL3	62842431	0.982000	0.34865	0.964000	0.40570	0.724000	0.41520	2.327000	0.43858	0.420000	0.25954	0.533000	0.62120	TTG		0.373	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		109	411	0	0	0	1	0	109	411					G	63069843	T	G	63069843	3	3	79	1	0	0	0	0	1	0	0	0	615	1838	64	4	1157	4	ANGPTL3	1	63069843	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116768	63069843	186180778	669	10986											
DOCK7	85440	broad.mit.edu	37	chr1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctaccccttggggtatcatCtattgacattgaacgtcttt	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000340370.5	-	6	567	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	184					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGGGTATCATCTATTGACATT	0.318																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(550-552)Gat>Aat		dedicator of cytokinesis 7							58	59	59					1																	63113959		2195	4298	6493	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113959C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.550G>A	1.37:g.63113959C>T	ENSP00000340742:p.Asp184Asn					DOCK7_ENST00000340370.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	p.D184N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	583	-			184					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.550G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832618	0.91036	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20738	2.48;2.48;2.05	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	B;P;D;D;P	0.69078	0.129;0.887;0.968;0.997;0.511	B;P;P;D;B	0.66497	0.046;0.811;0.864;0.944;0.209	T	0.09840	-1.0656	10	0.42905	T	0.14	.	17.4531	0.87597	0.0:1.0:0.0:0.0	.	184;184;184;184;184	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	184	ENSP00000251157:D184N;ENSP00000340742:D184N;ENSP00000384446:D184N	ENSP00000251157:D184N	D	-	1	0	DOCK7	62886547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.333000	0.79357	0.462000	0.41574	GAT		0.318	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		65	231	0	0	0	1	0	65	231					T	63113959	C	T	63113959	3	4	79	1	0	0	0	0	1	0	0	0	4708	913	32	2	5955	2	DOCK7	1	63113959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44116	63113959	186136662	670	10987											
FOXD3	27022	broad.mit.edu	37	chr1	63789347	63789347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagatcccccgcgagccGggcaacccgggcaagggcaa	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2																			0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(616-618)ccG>ccA		forkhead box D3							86	101	96					1																	63789347		2203	4300	6503	SO:0001819	synonymous_variant	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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.chr1:63789347G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.618G>A	1.37:g.63789347G>A						RP4-792G4.2_ENST00000427268.1_RNA	p.P206P	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	618	+			206					Q9BYM2|Q9UDD1	Silent	SNP	ENST00000371116.2	37	c.618G>A	CCDS624.1																																																																																				0.637	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			166	637	0	0	0	1	0	166	637					A	63789347	G	A	63789347	2	1	79	1	0	0	0	0	0	0	0	1	6023	1103	39	1		1	FOXD3	1	63789347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675388	63789347	185461274	671	10988											
ITGB3BP	23421	broad.mit.edu	37	chr1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcaactaaccatttgAtagtccatttctgtgctttt	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000271002.10	-	3	259	c.178T>C	c.(178-180)Tca>Cca	p.S60P	ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P|ITGB3BP_ENST00000371092.3_Missense_Mutation_p.S99P	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	60					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(295-297)Tca>Cca		integrin beta 3 binding protein (beta3-endonexin)							115	109	111					1																	63955760		2203	4300	6503	SO:0001583	missense	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63955760A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"centromere protein R"	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.178T>C	1.37:g.63955760A>G	ENSP00000271002:p.Ser60Pro					ITGB3BP_ENST00000271002.10_Missense_Mutation_p.S60P|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P	p.S99P	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN			4	355	-			60					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	37	c.295T>C	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874450	0.51695	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57595	0.39;0.39;0.39	5.45	0.367	0.16140	.	0.312682	0.23014	N	0.052931	T	0.23210	0.0561	L	0.59436	1.845	0.32293	N	0.56607	P;P;P	0.44380	0.834;0.552;0.757	B;B;B	0.38562	0.276;0.255;0.261	T	0.05852	-1.0860	10	0.66056	D	0.02	-0.2302	2.7656	0.05319	0.5081:0.2769:0.0779:0.1371	.	60;99;60	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	P	60;99;60	ENSP00000271002:S60P;ENSP00000360133:S99P;ENSP00000283568:S60P	ENSP00000271002:S60P	S	-	1	0	ITGB3BP	63728348	0.993000	0.37304	0.923000	0.36655	0.696000	0.40369	1.494000	0.35616	0.145000	0.18977	0.533000	0.62120	TCA		0.328	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		44	148	0	0	0	1	0	44	148					G	63955760	A	G	63955760	3	3	79	1	0	0	0	0	1	0	0	0	7926	333	12	4	379	4	ITGB3BP	1	63955760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166413	63955760	185294861	672	10989											
EFCAB7	84455	broad.mit.edu	37	chr1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctaatggaagctaatgatCgagaaggagatccttgtgac	11	6	1	4	rs144850202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	475							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1423-1425)Cga>Tga		EF-hand calcium binding domain 7							79	83	81					1																	64027454		2203	4300	6503	SO:0001587	stop_gained	84455						calcium ion binding	g.chr1:64027454C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1423C>T	1.37:g.64027454C>T	ENSP00000360129:p.Arg475*					EFCAB7_ENST00000461039.1_3'UTR	p.R475*	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			11	1669	+			475					Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	37	c.1423C>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480789	0.97603	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	2.79	0.32731	.	0.256083	0.37669	N	0.002000	.	.	.	.	.	.	0.37285	D	0.907992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6178	11.8871	0.52608	0.2475:0.6335:0.119:0.0	.	.	.	.	X	475	.	ENSP00000360129:R475X	R	+	1	2	EFCAB7	63800042	1.000000	0.71417	0.448000	0.26945	0.491000	0.33493	2.120000	0.41968	0.319000	0.23209	-0.347000	0.07816	CGA		0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		25	221	0	0	0	1	0	25	221					T	64027454	C	T	64027454	4	4	79	1	0	0	0	0	0	1	0	0	4956	876	31	1	1461	1	EFCAB7	1	64027454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71694	64027454	185223167	673	10990											
PGM1	5236	broad.mit.edu	37	chr1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttctcgaatcgtcttcCgactgagcggcactgggagt	13	10	2	1	rs397515423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371084.3	+	10	1720	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	RN7SL130P_ENST00000489463.2_RNA|PGM1_ENST00000371083.4_Nonsense_Mutation_p.R521*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000483707.1_3'UTR	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	503					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1561-1563)Cga>Tga		phosphoglucomutase 1							78	76	77					1																	64120045		2203	4300	6503	SO:0001587	stop_gained	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64120045C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1507C>T	1.37:g.64120045C>T	ENSP00000360125:p.Arg503*					PGM1_ENST00000371084.3_Nonsense_Mutation_p.R503*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000483707.1_3'UTR	p.R521*	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			10	1929	+			503					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Nonsense_Mutation	SNP	ENST00000371084.3	37	c.1561C>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146605	0.97324	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3083	13.3093	0.60370	0.2968:0.7032:0.0:0.0	.	.	.	.	X	479;503;306;521	.	ENSP00000360124:R521X	R	+	1	2	PGM1	63892633	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.134000	0.31442	1.379000	0.46325	0.563000	0.77884	CGA		0.532	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		66	214	0	0	0	1	0	66	214					T	64120045	C	T	64120045	4	4	79	1	0	0	0	0	0	1	0	0	11839	644	23	1	1849	1	PGM1	1	64120045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92591	64120045	185130576	674	10991											
ROR1	4919	broad.mit.edu	37	chr1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcatcatggaacatcTcaagtgaactcaacaaaggt	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000371080.1_Missense_Mutation_p.S49A|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	49	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGGAACATCTCAAGTGAACT	0.443																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(145-147)Tca>Gca		receptor tyrosine kinase-like orphan receptor 1							170	169	169					1																	64475030		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64475030T>G	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.145T>G	1.37:g.64475030T>G	ENSP00000360120:p.Ser49Ala					ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S49A	p.S49A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			2	520	+			49			Ig-like C2-type.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.145T>G	CCDS626.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284512	0.10513	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.74947	0.0;-0.89	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.30401	U	0.009703	T	0.50137	0.1598	N	0.04090	-0.28	0.80722	D	1	P;P	0.44690	0.841;0.841	P;P	0.51170	0.661;0.661	T	0.58515	-0.7623	10	0.13470	T	0.59	.	15.9094	0.79461	0.0:0.0:0.0:1.0	.	49;49	Q01973;Q66K77	ROR1_HUMAN;.	A	49;49;52	ENSP00000360121:S49A;ENSP00000360120:S49A	ENSP00000360120:S49A	S	+	1	0	ROR1	64247618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.106000	0.64597	2.241000	0.73720	0.533000	0.62120	TCA		0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		185	713	0	0	0	1	0	185	713					G	64475030	T	G	64475030	3	3	79	1	0	0	0	0	1	0	0	0	13576	1551	54	4	151	4	ROR1	1	64475030	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	354985	64475030	184775591	675	10992											
UBE2U	148581	broad.mit.edu	37	chr1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactttttggacaaccctgaGaagtggaatacaaactatac	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	97					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(289-291)gaG>gaT		ubiquitin-conjugating enzyme E2U (putative)							80	76	78					1																	64676474		2203	4300	6503	SO:0001583	missense	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64676474G>T	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.291G>T	1.37:g.64676474G>T	ENSP00000360116:p.Glu97Asp					UBE2U_ENST00000371076.3_Missense_Mutation_p.E97D	p.E97D			Q5VVX9	UBE2U_HUMAN			4	715	+			97					Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	c.291G>T	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.473912	0.01044	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.47528	0.84;0.84	5.5	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	4.517410	0.00166	N	0.000008	T	0.06280	0.0162	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.18710	T	0.47	.	0.9198	0.01312	0.3285:0.1971:0.3413:0.1331	.	97	Q5VVX9	UBE2U_HUMAN	D	97	ENSP00000360117:E97D;ENSP00000360116:E97D	ENSP00000360116:E97D	E	+	3	2	UBE2U	64449062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.616000	0.00881	-2.767000	0.00367	-1.083000	0.02208	GAG		0.308	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		28	145	1	0	2.80507e-11	1	2.99019e-11	28	145					T	64676474	G	T	64676474	3	4	79	1	0	0	0	0	1	0	0	0	16928	933	33	3	305	3	UBE2U	1	64676474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201444	64676474	184574147	676	10993											
CACHD1	57685	broad.mit.edu	37	chr1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttttcctccccctaTgagcacctcagccagccaga	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000371073.2	+	14	1998	c.1998T>G	c.(1996-1998)taT>taG	p.Y666*	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*			Q5VU97	CAHD1_HUMAN	cache domain containing 1	666					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCCCCTATGAGCACCTCA	0.537																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1996-1998)taT>taG		cache domain containing 1							174	171	172					1																	65129424		2203	4300	6503	SO:0001587	stop_gained	57685				calcium ion transport	integral to membrane		g.chr1:65129424T>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1998T>G	1.37:g.65129424T>G	ENSP00000360113:p.Tyr666*					CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*|CACHD1_ENST00000495994.1_3'UTR	p.Y666*			Q5VU97	CAHD1_HUMAN			14	1998	+			666					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	ENST00000371073.2	37	c.1998T>G		.	.	.	.	.	.	.	.	.	.	T	39	7.571816	0.98365	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.92	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2379	15.5787	0.76414	0.0:0.2889:0.0:0.7111	.	.	.	.	X	666;615	.	ENSP00000290039:Y615X	Y	+	3	2	CACHD1	64902012	0.175000	0.23083	0.855000	0.33649	0.990000	0.78478	-0.484000	0.06528	-0.793000	0.04475	-0.334000	0.08254	TAT		0.537	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		126	959	0	0	0	1	0	126	959					G	65129424	T	G	65129424	4	3	79	1	0	0	0	0	0	1	0	0	2544	1471	51	4	1899	4	CACHD1	1	65129424	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	452950	65129424	184121197	677	10994											
CACHD1	57685	broad.mit.edu	37	chr1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacttaaagtacacagctgtCttctgggcacactgtggctg	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000371073.2	+	17	2399	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1	800	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACAGCTGTCTTCTGGGCAC	0.413																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2398-2400)tCt>tAt		cache domain containing 1							213	187	196					1																	65137258		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65137258C>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2399C>A	1.37:g.65137258C>A	ENSP00000360113:p.Ser800Tyr					CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y|CACHD1_ENST00000495994.1_3'UTR	p.S800Y			Q5VU97	CAHD1_HUMAN			17	2399	+			800			Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2399C>A		.	.	.	.	.	.	.	.	.	.	C	15.15	2.749343	0.49257	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26957	1.7;1.71	6.08	5.17	0.71159	Cache (1);	0.045645	0.85682	D	0.000000	T	0.19805	0.0476	L	0.53249	1.67	0.58432	D	0.999993	B	0.23990	0.095	B	0.34722	0.188	T	0.06552	-1.0820	10	0.72032	D	0.01	-20.5468	15.3777	0.74625	0.0:0.9336:0.0:0.0664	.	800	Q5VU97	CAHD1_HUMAN	Y	800;749	ENSP00000360113:S800Y;ENSP00000290039:S749Y	ENSP00000290039:S749Y	S	+	2	0	CACHD1	64909846	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.146000	0.77373	1.595000	0.50050	-0.136000	0.14681	TCT		0.413	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		75	642	1	0	3.12118e-38	1	3.75939e-38	75	642					A	65137258	C	A	65137258	3	1	79	1	0	0	0	0	1	0	0	0	2544	913	32	3	2312	3	CACHD1	1	65137258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7834	65137258	184113363	678	10995											
RAVER2	55225	broad.mit.edu	37	chr1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttcttggaacacctcacaGcttgccacatctgatgaatc	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000294428.3	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1126-1128)aGc>aTc		ribonucleoprotein, PTB-binding 2							135	124	127					1																	65268680		1844	4101	5945	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268680G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1127G>T	1.37:g.65268680G>T	ENSP00000294428:p.Ser376Ile					RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I|RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I	p.S376I			Q9HCJ3	RAVR2_HUMAN			6	1205	+			376					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1127G>T		.	.	.	.	.	.	.	.	.	.	G	11.56	1.674745	0.29783	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33865	1.39;1.4	5.67	2.69	0.31865	.	0.420646	0.31697	N	0.007205	T	0.21921	0.0528	L	0.50333	1.59	0.25190	N	0.990134	P;P	0.50443	0.893;0.935	P;P	0.51945	0.487;0.685	T	0.06643	-1.0815	10	0.44086	T	0.13	-20.3287	6.1473	0.20293	0.1664:0.286:0.5476:0.0	.	376;376	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	376;376;82	ENSP00000360112:S376I;ENSP00000294428:S376I	ENSP00000294428:S376I	S	+	2	0	RAVER2	65041268	1.000000	0.71417	0.878000	0.34440	0.009000	0.06853	2.378000	0.44309	0.286000	0.22352	-0.179000	0.13096	AGC		0.308	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		36	420	1	0	3.33393e-15	1	3.63836e-15	36	420					T	65268680	G	T	65268680	3	4	79	1	0	0	0	0	1	0	0	0	13145	971	34	3	1149	3	RAVER2	1	65268680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131422	65268680	183981941	679	10996											
JAK1	3716	broad.mit.edu	37	chr1	65332855	65332855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggttcctctgtctgatGgacttattcaatgtttctgg	10	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGTCTGATGGACTTATTCA	0.363			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(682-684)tcC>tcT		Janus kinase 1							88	81	83					1																	65332855		1874	4112	5986	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65332855G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.684C>T	1.37:g.65332855G>A							p.S228S	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	932	-			228			FERM.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.684C>T	CCDS41346.1																																																																																				0.363	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		69	295	0	0	0	1	0	69	295					A	65332855	G	A	65332855	2	1	79	1	0	0	0	0	0	0	0	1	7967	1335	47	2		2	JAK1	1	65332855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64175	65332855	183917766	680	10997											
DNAJC6	9829	broad.mit.edu	37	chr1	65855014	65855014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggatgtagaactacaGccccatgacaaagtaataga	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	366	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1096-1098)caG>caA		DnaJ (Hsp40) homolog, subfamily C, member 6							122	113	116					1																	65855014		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855014G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1098G>A	1.37:g.65855014G>A						DNAJC6_ENST00000263441.7_Silent_p.Q353Q|DNAJC6_ENST00000371069.4_Silent_p.Q423Q	p.Q366Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			10	1255	+			366			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1098G>A	CCDS30739.1																																																																																				0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			47	370	0	0	0	1	0	47	370					A	65855014	G	A	65855014	2	1	79	1	0	0	0	0	0	0	0	1	4669	962	34	2		2	DNAJC6	1	65855014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522159	65855014	183395607	681	10998											
DNAJC6	9829	broad.mit.edu	37	chr1	65855062	65855062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgggaacattactgCacaaaagatgtcaatcccag	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	382					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1144-1146)tgC>tgT		DnaJ (Hsp40) homolog, subfamily C, member 6							142	125	131					1																	65855062		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855062C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1146C>T	1.37:g.65855062C>T						DNAJC6_ENST00000263441.7_Silent_p.C369C|DNAJC6_ENST00000371069.4_Silent_p.C439C	p.C382C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			10	1303	+			382					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1146C>T	CCDS30739.1																																																																																				0.428	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			63	282	0	0	0	1	0	63	282					T	65855062	C	T	65855062	2	4	79	1	0	0	0	0	0	0	0	1	4669	718	25	2		2	DNAJC6	1	65855062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	65855062	183395559	682	10999											
LEPR	3953	broad.mit.edu	37	chr1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttgtgcctgtgccaAcagccaaactcaacgacact	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCTGTGCCAACAGCCAAACT	0.428																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(604-606)Aca>Cca		leptin receptor							148	134	139					1																	66058449		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66058449A>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.604A>C	1.37:g.66058449A>C	ENSP00000330393:p.Thr202Pro					LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P	p.T202P	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	6	789	+			202					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.604A>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343691	0.24339	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.55;0.53;0.55	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43633	0.586;0.709;0.813	B;B;B	0.35073	0.192;0.128;0.195	T	0.15321	-1.0441	10	0.26408	T	0.33	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	P	202	ENSP00000340884:T202P;ENSP00000330393:T202P;ENSP00000360099:T202P;ENSP00000360098:T202P;ENSP00000360097:T202P	ENSP00000340884:T202P	T	+	1	0	LEPR	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		11	369	0	0	0	1	0	11	369					C	66058449	A	C	66058449	3	2	79	1	0	0	0	0	1	0	0	0	8759	43	2	4	618	4	LEPR	1	66058449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203387	66058449	183192172	683	11000											
LEPR	3953	broad.mit.edu	37	chr1	66081902	66081902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttttcatggcctatgaGcaaaggtaagaagaggtaca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66081902G>T	ENST00000349533.6	+	15	2392	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGCCTATGAGCAAAGGTAAG	0.373																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2206-2208)aGc>aTc		leptin receptor							104	100	101					1																	66081902		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081902G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2207G>T	1.37:g.66081902G>T	ENSP00000330393:p.Ser736Ile					LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000371060.3_Missense_Mutation_p.S736I	p.S736I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2392	+			736			Fibronectin type-III 4.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2207G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929212	0.73327	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.5	4.59	0.56863	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.272849	0.47455	D	0.000238	T	0.64918	0.2642	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.71751	-0.4498	10	0.87932	D	0	-5.7801	14.3195	0.66476	0.0717:0.0:0.9283:0.0	.	736;736;736	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	736	ENSP00000340884:S736I;ENSP00000330393:S736I;ENSP00000360099:S736I;ENSP00000360098:S736I;ENSP00000360097:S736I	ENSP00000340884:S736I	S	+	2	0	LEPR	65854490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.916000	0.56416	1.317000	0.45149	-0.140000	0.14226	AGC		0.373	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		7	174	1	0	0.0293803	1	0.0294705	7	174					T	66081902	G	T	66081902	3	4	79	1	0	0	0	0	1	0	0	0	8759	971	34	3	2257	3	LEPR	1	66081902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23453	66081902	183168719	684	11001											
LEPR	3953	broad.mit.edu	37	chr1	66102160	66102160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccctttgttaaatacgCcacgctgatcagcaactcta	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66102160C>T	ENST00000349533.6	+	20	3145	c.2960C>T	c.(2959-2961)gCc>gTc	p.A987V	LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTTAAATACGCCACGCTGATC	0.433																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2959-2961)gCc>gTc		leptin receptor							82	75	78					1																	66102160		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102160C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2960C>T	1.37:g.66102160C>T	ENSP00000330393:p.Ala987Val					LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	p.A987V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3145	+			987					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2960C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118589	0.77323	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.70045	-0.45	5.93	5.93	0.95920	.	0.098323	0.64402	D	0.000001	D	0.82435	0.5036	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.83343	-0.0007	10	0.72032	D	0.01	-13.5821	20.3311	0.98718	0.0:1.0:0.0:0.0	.	987	P48357	LEPR_HUMAN	V	987;54	ENSP00000330393:A987V	ENSP00000330393:A987V	A	+	2	0	LEPR	65874748	1.000000	0.71417	0.973000	0.42090	0.284000	0.27059	5.286000	0.65639	2.803000	0.96430	0.650000	0.86243	GCC		0.433	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		9	326	0	0	0	1	0	9	326					T	66102160	C	T	66102160	3	4	79	1	0	0	0	0	1	0	0	0	8759	739	26	2	3260	2	LEPR	1	66102160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20258	66102160	183148461	685	11002											
SGIP1	84251	broad.mit.edu	37	chr1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttagccctcccattcattCttccagccctcctccaatag	3	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	491	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATTCATTCTTCCAGCCCT	0.453																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1471-1473)tCt>tAt		SH3-domain GRB2-like (endophilin) interacting protein 1							177	168	171					1																	67155901		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155901C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1472C>A	1.37:g.67155901C>A	ENSP00000360076:p.Ser491Tyr					SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y	p.S491Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			17	1549	+			491			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1472C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939189	0.92526	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	6.04	6.04	0.98038	.	0.650667	0.17876	N	0.159010	T	0.15305	0.0369	M	0.64997	1.995	0.54753	D	0.999983	D;P;P;D	0.71674	0.998;0.826;0.826;0.963	D;P;P;P	0.78314	0.991;0.467;0.467;0.642	T	0.00326	-1.1815	10	0.56958	D	0.05	-11.7141	20.5792	0.99380	0.0:1.0:0.0:0.0	.	521;91;281;491	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Y	522;292;281;521;494;291;491	ENSP00000237247:S522Y;ENSP00000360078:S292Y;ENSP00000360074:S281Y;ENSP00000360075:S291Y;ENSP00000360076:S491Y	ENSP00000237247:S522Y	S	+	2	0	SGIP1	66928489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.561000	0.74099	TCT		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		93	814	1	0	1.11079e-38	1	1.33978e-38	93	814					A	67155901	C	A	67155901	3	1	79	1	0	0	0	0	1	0	0	0	14256	913	32	3	1538	3	SGIP1	1	67155901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053741	67155901	182094720	686	11003											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggaagaacccagtcagcGtgatgatatctctcgcctta	9	10	2	3	rs376669297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333																																						ENST00000282670.2																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(160-162)cGt>cAt		Tctex1 domain containing 1		G	HIS/ARG	0,4406		0,0,2203	192	187	189		161	-10.6	0	1		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTEX1D1	NM_152665.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	54/180	67236111	1,13005	2203	4300	6503	SO:0001583	missense	200132							g.chr1:67236111G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.161G>A	1.37:g.67236111G>A	ENSP00000282670:p.Arg54His					TCTEX1D1_ENST00000491611.1_3'UTR	p.R54H	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN			3	289	+			54					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.161G>A	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570248	0.28003	0.0	1.16E-4	ENSG00000152760	ENST00000282670	T	0.14516	2.5	6.06	-10.6	0.00265	.	0.742522	0.13351	N	0.394416	T	0.01940	0.0061	N	0.24115	0.695	0.18873	N	0.999985	B	0.09022	0.002	B	0.04013	0.001	T	0.40997	-0.9533	10	0.28530	T	0.3	-21.7112	11.5878	0.50929	0.5997:0.2418:0.1585:0.0	.	54	Q8N7M0	TC1D1_HUMAN	H	54	ENSP00000282670:R54H	ENSP00000282670:R54H	R	+	2	0	TCTEX1D1	67008699	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.489000	0.06490	-1.795000	0.01255	-0.182000	0.12963	CGT		0.333	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		136	453	0	0	0	1	0	136	453					A	67236111	G	A	67236111	3	1	79	1	0	0	0	0	1	0	0	0	15771	1145	40	1	167	1	TCTEX1D1	1	67236111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80210	67236111	182014510	687	11004											
INSL5	10022	broad.mit.edu	37	chr1	67266800	67266800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacagatatagatgactgtCcgtatgtattctagcccaca	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67266800C>T	ENST00000304526.2	-	1	139	c.105G>A	c.(103-105)cgG>cgA	p.R35R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	35						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AGATGACTGTCCGTATGTATT	0.473																																						ENST00000304526.2																			0				breast(2)|endometrium(1)|lung(5)	8						c.(103-105)cgG>cgA		insulin-like 5							117	105	109					1																	67266800		2203	4300	6503	SO:0001819	synonymous_variant	10022					extracellular region	hormone activity	g.chr1:67266800C>T	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"Endogenous ligands"	6088	protein-coding gene	gene with protein product	"prepro-INSL5"	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.105G>A	1.37:g.67266800C>T							p.R35R	NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN			1	139	-			35					Q3MIY4|Q5VYD8	Silent	SNP	ENST00000304526.2	37	c.105G>A	CCDS634.1																																																																																				0.473	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		10	366	0	0	0	1	0	10	366					T	67266800	C	T	67266800	2	4	79	1	0	0	0	0	0	0	0	1	7799	842	30	2		2	INSL5	1	67266800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30689	67266800	181983821	688	11005											
WDR78	79819	broad.mit.edu	37	chr1	67299780	67299780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgttcctcgatcttgTtctatccactgtagttgcca	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	595					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1783-1785)gaA>gaG		WD repeat domain 78							100	95	96					1																	67299780		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67299780T>C	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1785A>G	1.37:g.67299780T>C						WDR78_ENST00000431318.1_Silent_p.E341E	p.E595E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			12	1840	-			595					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.1785A>G	CCDS635.1																																																																																				0.333	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		37	140	0	0	0	1	0	37	140					C	67299780	T	C	67299780	2	2	79	1	0	0	0	0	0	0	0	1	17382	1722	60	4		4	WDR78	1	67299780	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32980	67299780	181950841	689	11006											
WDR78	79819	broad.mit.edu	37	chr1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccattgtgatagccaaCggctaaaaggttaggtgctc	12	8	0	1	rs375562160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1660-1662)Gtt>Att		WD repeat domain 78		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104	103	103		1660	4.4	1	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301382C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile					WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	p.V554I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			11	1715	-			554					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1660G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		90	319	0	0	0	1	0	90	319					T	67301382	C	T	67301382	3	4	79	1	0	0	0	0	1	0	0	0	17382	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1602	67301382	181949239	690	11007											
WDR78	79819	broad.mit.edu	37	chr1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaagtcacaggaaaaagaCcaaagtcgttccaagttggc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	476					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1426-1428)tgG>tgA		WD repeat domain 78							197	192	194					1																	67306218		2203	4300	6503	SO:0001587	stop_gained	79819							g.chr1:67306218C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1428G>A	1.37:g.67306218C>T	ENSP00000360065:p.Trp476*					WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			9	1483	-			476					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.1428G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439263	0.83885	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8706	18.8908	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	476;222;242;476;98	.	ENSP00000360062:W476X	W	-	3	0	WDR78	67078806	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.311000	0.72835	2.794000	0.96219	0.650000	0.86243	TGG		0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		69	355	0	0	0	1	0	69	355					T	67306218	C	T	67306218	4	4	79	1	0	0	0	0	0	1	0	0	17382	508	18	2	1211	2	WDR78	1	67306218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4836	67306218	181944403	691	11008											
C1orf141	400757	broad.mit.edu	37	chr1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtaacccacaaattgTtttgttaggctagaaaaatt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(976-978)aaA>aaC		chromosome 1 open reading frame 141							90	93	92					1																	67558913		2203	4300	6503	SO:0001583	missense	400757							g.chr1:67558913T>G	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.978A>C	1.37:g.67558913T>G	ENSP00000360046:p.Lys326Asn					C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	1087	-			326					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.978A>C	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660596	0.29515	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.48201	0.82;0.82;0.82	4.56	2.03	0.26663	.	0.667620	0.13397	N	0.390906	T	0.17492	0.0420	L	0.32530	0.975	0.09310	N	1	P	0.39250	0.665	B	0.39805	0.31	T	0.08953	-1.0697	10	0.72032	D	0.01	-5.4976	4.0586	0.09827	0.0:0.1103:0.2124:0.6773	.	326	Q5JVX7	CA141_HUMAN	N	326	ENSP00000360046:K326N;ENSP00000360045:K326N;ENSP00000444018:K326N	ENSP00000360045:K326N	K	-	3	2	C1orf141	67331501	0.337000	0.24766	0.006000	0.13384	0.007000	0.05969	0.712000	0.25779	0.847000	0.35167	0.533000	0.62120	AAA		0.328	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		58	471	0	0	0	1	0	58	471					G	67558913	T	G	67558913	3	3	79	1	0	0	0	0	1	0	0	0	2008	1722	60	4	228	4	C1orf141	1	67558913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	252695	67558913	181691708	692	11009											
C1orf141	400757	broad.mit.edu	37	chr1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacagttgtgtggcccGctttaaaagacatagggatc	10	9	1	1	rs563154808	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15768	0.0		0.0	False		,,,				2504	0.001					ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(862-864)gCg>gTg		chromosome 1 open reading frame 141							89	90	90					1																	67559028		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67559028G>A	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.863C>T	1.37:g.67559028G>A	ENSP00000360046:p.Ala288Val					C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	972	-			288					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.863C>T	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958916	0.02267	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.25250	1.81;1.81;1.81	4.86	-4.35	0.03656	.	3.875600	0.00807	N	0.001460	T	0.01730	0.0055	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.02654	T	1	4.6833	3.9217	0.09247	0.4152:0.0:0.3258:0.2589	.	288	Q5JVX7	CA141_HUMAN	V	288	ENSP00000360046:A288V;ENSP00000360045:A288V;ENSP00000444018:A288V	ENSP00000360045:A288V	A	-	2	0	C1orf141	67331616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	-0.927000	0.03766	-1.456000	0.01031	GCG		0.323	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		52	435	0	0	0	1	0	52	435					A	67559028	G	A	67559028	3	1	79	1	0	0	0	0	1	0	0	0	2008	1087	38	1	343	1	C1orf141	1	67559028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	67559028	181691593	693	11010											
IL23R	149233	broad.mit.edu	37	chr1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcctttcattagacaAcagaggagacattggacttt	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	IL23R_ENST00000473881.1_Intron|AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	350					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1048-1050)aAc>aGc		interleukin 23 receptor							182	166	171					1																	67705865		2203	4299	6502	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67705865A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1049A>G	1.37:g.67705865A>G	ENSP00000321345:p.Asn350Ser					IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	p.N350S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			9	1220	+			350					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1049A>G	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.206588|2.206588	0.39003|0.39003	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.37915|.	1.17;1.29|.	5.19|5.19	1.56|1.56	0.23342|0.23342	.|.	1.218930|.	0.05371|.	N|.	0.535435|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B;B;P;P;B;P|.	0.38504|.	0.091;0.037;0.091;0.037;0.005;0.634;0.571;0.091;0.571|.	B;B;B;B;B;B;B;B;B|.	0.33392|.	0.027;0.012;0.027;0.018;0.003;0.124;0.163;0.027;0.121|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	-18.5664|-18.5664	6.9466|6.9466	0.24522|0.24522	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	96;174;174;108;179;204;257;95;350|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	S|A	350;179;108;95|112	ENSP00000321345:N350S;ENSP00000378652:N95S|.	ENSP00000321345:N350S|.	N|T	+|+	2|1	0|0	IL23R|IL23R	67478453|67478453	0.011000|0.011000	0.17503|0.17503	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	1.051000|1.051000	0.30417|0.30417	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		19	216	0	0	0	1	0	19	216					G	67705865	A	G	67705865	3	3	79	1	0	0	0	0	1	0	0	0	7706	43	2	4	1079	4	IL23R	1	67705865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146837	67705865	181544756	694	11011											
DEPDC1	55635	broad.mit.edu	37	chr1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagtataactactccacGtttacttgtattggccatgt	7	8	0	0	rs369570198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	231					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACTACTCCACGTTTACTTGTA	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14955	0.0		0.0	False		,,,				2504	0.0					ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(691-693)Cgt>Tgt		DEP domain containing 1		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	150	140	143		691,691	5.3	1	1		143	0,8598		0,0,4299	no	missense,missense	DEPDC1	NM_001114120.1,NM_017779.4	180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	231/812,231/528	68954087	1,12999	2201	4299	6500	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954087G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.691C>T	1.37:g.68954087G>A	ENSP00000412292:p.Arg231Cys					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	5	805	-			231					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.691C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467382	0.43839	2.27E-4	0.0	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18174	2.23;2.23;2.23	5.34	5.34	0.76211	Rho GTPase activation protein (1);	0.133715	0.64402	D	0.000002	T	0.07908	0.0198	N	0.14661	0.345	0.38425	D	0.946294	P;P	0.52842	0.837;0.956	B;B	0.42882	0.326;0.401	T	0.09164	-1.0687	10	0.66056	D	0.02	-2.1483	19.0216	0.92917	0.0:0.0:1.0:0.0	.	231;231	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	231;231;176;10	ENSP00000412292:R231C;ENSP00000360005:R231C;ENSP00000431477:R10C	ENSP00000360003:R176C	R	-	1	0	DEPDC1	68726675	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	8.664000	0.91139	2.488000	0.83962	0.585000	0.79938	CGT		0.338	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		18	232	0	0	0	1	0	18	232					A	68954087	G	A	68954087	3	1	79	1	0	0	0	0	1	0	0	0	4455	1145	40	1	1776	1	DEPDC1	1	68954087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248222	68954087	180296534	695	11012											
LRRC7	57554	broad.mit.edu	37	chr1	70226019	70226019	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaaggaggtctttaacttCgaacgaacattagaggagct	10	8	1	1	rs200701056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000035383.5	+	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F44F(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						TCTTTAACTTCGAACGAACAT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0					ENST00000310961.5																			1	Substitution - coding silent(1)	p.F44F(1)	large_intestine(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						c.(145-147)ttC>ttT		leucine rich repeat containing 7							84	83	83					1																	70226019		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70226019C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.132C>T	1.37:g.70226019C>T						LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000035383.5_Silent_p.F44F|LRRC7_ENST00000415775.2_5'UTR	p.F49F			Q96NW7	LRRC7_HUMAN			4	565	+			44					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.147C>T	CCDS645.1																																																																																				0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	249	0	0	0	1	0	31	249					T	70226019	C	T	70226019	2	4	79	1	0	0	0	0	0	0	0	1	9058	883	31	1		1	LRRC7	1	70226019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271932	70226019	179024602	696	11013											
LRRC7	57554	broad.mit.edu	37	chr1	70300475	70300475	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttagactacctgatggCttcacacagctcctaaacct	5	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000035383.5	+	4	429	c.399C>A	c.(397-399)ggC>ggA	p.G133G	LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000310961.5_Silent_p.G138G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						TACCTGATGGCTTCACACAGC	0.348																																						ENST00000310961.5																			0				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						c.(412-414)ggC>ggA		leucine rich repeat containing 7							153	142	146					1																	70300475		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70300475C>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.399C>A	1.37:g.70300475C>A						LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000035383.5_Silent_p.G133G|LRRC7_ENST00000415775.2_5'UTR	p.G138G			Q96NW7	LRRC7_HUMAN			7	832	+			133					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.414C>A	CCDS645.1																																																																																				0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		43	393	1	0	2.13384e-23	1	2.42615e-23	43	393					A	70300475	C	A	70300475	2	1	79	1	0	0	0	0	0	0	0	1	9058	784	28	3		3	LRRC7	1	70300475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74456	70300475	178950146	697	11014											
LRRC7	57554	broad.mit.edu	37	chr1	70486761	70486761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaacgcatgactgttgcCtttgaatttgaagacaaaaa	7	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000035383.5	+	14	1410	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	LRRC7_ENST00000310961.5_Silent_p.A465A|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	460						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						TGACTGTTGCCTTTGAATTTG	0.378																																						ENST00000310961.5																			0				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						c.(1393-1395)gcC>gcT		leucine rich repeat containing 7							86	82	83					1																	70486761		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70486761C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1380C>T	1.37:g.70486761C>T						RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Silent_p.A460A|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	p.A465A			Q96NW7	LRRC7_HUMAN			17	1813	+			460					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.1395C>T	CCDS645.1																																																																																				0.378	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		42	147	0	0	0	1	0	42	147					T	70486761	C	T	70486761	2	4	79	1	0	0	0	0	0	0	0	1	9058	668	24	2		2	LRRC7	1	70486761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186286	70486761	178763860	698	11015											
LRRC7	57554	broad.mit.edu	37	chr1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccatctttcccacagcCtcttgattcaaagccattac	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000035383.5	+	19	2228	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	LRRC7_ENST00000310961.5_Missense_Mutation_p.P738L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	733						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						TTCCCACAGCCTCTTGATTCA	0.498																																						ENST00000310961.5																			0				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						c.(2212-2214)cCt>cTt		leucine rich repeat containing 7							146	154	151					1																	70503819		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503819C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2198C>T	1.37:g.70503819C>T	ENSP00000035383:p.Pro733Leu					LRRC7_ENST00000035383.5_Missense_Mutation_p.P733L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	p.P738L			Q96NW7	LRRC7_HUMAN			22	2631	+			733					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2213C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999194	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.68025	-0.3;-0.18;1.35	5.38	4.46	0.54185	.	0.128125	0.52532	D	0.000064	T	0.67401	0.2889	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.67110	-0.5753	10	0.33141	T	0.24	.	13.5366	0.61650	0.0:0.9239:0.0:0.0761	.	17;733	F8WE45;Q96NW7	.;LRRC7_HUMAN	L	738;733;17;556	ENSP00000309245:P738L;ENSP00000035383:P733L;ENSP00000394867:P17L	ENSP00000035383:P733L	P	+	2	0	LRRC7	70276407	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.420000	0.80191	1.250000	0.43966	0.467000	0.42956	CCT		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		76	841	0	0	0	1	0	76	841					T	70503819	C	T	70503819	3	4	79	1	0	0	0	0	1	0	0	0	9058	681	24	2	2272	2	LRRC7	1	70503819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17058	70503819	178746802	699	11016											
LRRC7	57554	broad.mit.edu	37	chr1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtctacacacagacacAcaccagaaacagaagtgcct	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000035383.5	+	19	2521	c.2491A>G	c.(2491-2493)Aca>Gca	p.T831A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T836A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	831						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						ACACAGACACACACCAGAAAC	0.498																																						ENST00000310961.5																			0				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						c.(2506-2508)Aca>Gca		leucine rich repeat containing 7							75	78	77					1																	70504112		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504112A>G		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.2491A>G	1.37:g.70504112A>G	ENSP00000035383:p.Thr831Ala					LRRC7_ENST00000035383.5_Missense_Mutation_p.T831A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	p.T836A			Q96NW7	LRRC7_HUMAN			22	2924	+			831					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2506A>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732561	0.30684	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.53	4.34	0.51931	.	0.180173	0.50627	D	0.000103	T	0.14056	0.0340	L	0.40543	1.245	0.35902	D	0.830459	B;B;B	0.17465	0.007;0.005;0.022	B;B;B	0.19148	0.018;0.011;0.024	T	0.06770	-1.0808	10	0.44086	T	0.13	.	7.076	0.25205	0.7017:0.1522:0.0:0.1461	.	115;831;831	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	836;831;115;654	ENSP00000309245:T836A;ENSP00000035383:T831A;ENSP00000394867:T115A	ENSP00000035383:T831A	T	+	1	0	LRRC7	70276700	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.430000	0.52807	2.113000	0.64589	0.383000	0.25322	ACA		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		34	276	0	0	0	1	0	34	276					G	70504112	A	G	70504112	3	3	79	1	0	0	0	0	1	0	0	0	9058	159	6	4	2565	4	LRRC7	1	70504112	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293	70504112	178746509	700	11017											
LRRC7	57554	broad.mit.edu	37	chr1	70541910	70541910	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcttcacaggccaccCggggacctcagcctggacgg	11	18	3	0	rs199872098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000035383.5	+	22	4297	c.4267C>A	c.(4267-4269)Cgg>Agg	p.R1423R	LRRC7_ENST00000310961.5_Silent_p.R1381R|LRRC7_ENST00000415775.2_Silent_p.R707R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1423						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				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						ACAGGCCACCCGGGGACCTCA	0.473																																						ENST00000310961.5																			0				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						c.(4141-4143)Cgg>Agg		leucine rich repeat containing 7							83	83	83					1																	70541910		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541910C>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.4267C>A	1.37:g.70541910C>A						LRRC7_ENST00000035383.5_Silent_p.R1423R|LRRC7_ENST00000415775.2_Silent_p.R707R	p.R1381R			Q96NW7	LRRC7_HUMAN			24	4559	+			1423					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4141C>A	CCDS645.1																																																																																				0.473	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	440	1	0	3.51602e-12	1	3.76992e-12	18	440					A	70541910	C	A	70541910	2	1	79	1	0	0	0	0	0	0	0	1	9058	643	23	3		3	LRRC7	1	70541910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37798	70541910	178708711	701	11018											
SFRS11	9295	broad.mit.edu	37	chr1	70710389	70710389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagaagcagatcgagaCggcggtcacattctaagtct	12	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70710389C>T	ENST00000370950.3	+	9	905	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SRSF11_ENST00000370949.1_Missense_Mutation_p.R215W|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.R275W|SRSF11_ENST00000370951.1_Missense_Mutation_p.R275W			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	275	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R275W(1)		large_intestine(3)|ovary(2)|skin(1)	6						CAGATCGAGACGGCGGTCACA	0.428																																						ENST00000370950.3																			1	Substitution - Missense(1)	p.R275W(1)	endometrium(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(823-825)Cgg>Tgg		serine/arginine-rich splicing factor 11							80	78	79					1																	70710389		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70710389C>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.823C>T	1.37:g.70710389C>T	ENSP00000359988:p.Arg275Trp					SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R275W|SRSF11_ENST00000370949.1_Missense_Mutation_p.R215W|SRSF11_ENST00000405432.1_Missense_Mutation_p.R275W	p.R275W			Q05519	SRS11_HUMAN			9	905	+			275			10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.823C>T	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899721	0.52227	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84370	-1.84;-1.84;-1.84;2.5;-0.68	5.53	4.41	0.53225	.	0.190975	0.53938	D	0.000051	D	0.89667	0.6781	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.993;0.99	D	0.90884	0.4756	10	0.72032	D	0.01	.	12.848	0.57842	0.8578:0.1422:0.0:0.0	.	215;275;275;275	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	W	275;275;275;275;215	ENSP00000359989:R275W;ENSP00000359988:R275W;ENSP00000384357:R275W;ENSP00000378568:R275W;ENSP00000359987:R215W	ENSP00000359987:R215W	R	+	1	2	SRSF11	70482977	1.000000	0.71417	0.920000	0.36463	0.728000	0.41692	5.367000	0.66127	1.045000	0.40225	-0.410000	0.06199	CGG		0.428	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		39	299	0	0	0	1	0	39	299					T	70710389	C	T	70710389	3	4	79	1	0	0	0	0	1	0	0	0	14216	527	19	1	853	1	SFRS11	1	70710389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168479	70710389	178540232	702	11019											
ANKRD13C	81573	broad.mit.edu	37	chr1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctaagggaaattcctggCtcatggctatcgtagcttta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAATTCCTGGCTCATGGCTAT	0.358																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1366-1368)aGc>aTc		ankyrin repeat domain 13C							186	191	189					1																	70740430		2203	4300	6503	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70740430C>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1367G>T	1.37:g.70740430C>A	ENSP00000359982:p.Ser456Ile					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	p.S456I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			11	1680	-			456					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1367G>T	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.58210	0.35;0.35	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.80995	-0.1133	10	0.87932	D	0	-15.944	18.7421	0.91777	0.0:1.0:0.0:0.0	.	421;456	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	456;421	ENSP00000359982:S456I;ENSP00000262346:S421I	ENSP00000262346:S421I	S	-	2	0	ANKRD13C	70513018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.404000	0.79996	2.537000	0.85549	0.563000	0.77884	AGC		0.358	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		17	653	1	0	6.94344e-10	1	7.33246e-10	17	653					A	70740430	C	A	70740430	3	1	79	1	0	0	0	0	1	0	0	0	643	797	28	3	270	3	ANKRD13C	1	70740430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30041	70740430	178510191	703	11020											
ANKRD13C	81573	broad.mit.edu	37	chr1	70742526	70742526	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagagactgtcttcgaatcGgctgccaaaaaaaaaaaaga	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.e10-1		ankyrin repeat domain 13C							47	52	50					1																	70742526		2203	4298	6501	SO:0001630	splice_region_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70742526G>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1216-1C>T	1.37:g.70742526G>A						ANKRD13C_ENST00000262346.6_Splice_Site_p.P371_splice|ANKRD13C_ENST00000464236.1_5'UTR	p.P406_splice	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			10	1530	-			406					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Splice_Site	SNP	ENST00000370944.4	37	c.1215_splice	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958445	0.53400	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	.	0.048245	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55990	1.75	0.80722	D	1	P;B	0.36282	0.546;0.387	B;B	0.32928	0.096;0.155	T	0.06789	-1.0807	10	0.22109	T	0.4	.	18.2515	0.90005	0.0:0.0:1.0:0.0	.	371;406	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	406;371	ENSP00000359982:P406L;ENSP00000262346:P371L	ENSP00000262346:P371L	P	-	2	0	ANKRD13C	70515114	1.000000	0.71417	0.846000	0.33378	0.642000	0.38348	8.934000	0.92915	2.564000	0.86499	0.563000	0.77884	CCG		0.313	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816	Missense_Mutation	28	144	0	0	0	1	0	28	144					A	70742526	G	A	70742526	5	1	79	1	0	0	0	0	0	0	1	0	643	1130	39	1	424	1	ANKRD13C	1	70742526	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	70742526	178508095	704	11021											
HHLA3	11147	broad.mit.edu	37	chr1	70832204	70832204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagaaagaatttgaggCgaatccatagagtaaggtaa	11	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70832204C>T	ENST00000359875.5	+	2	475	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*|HHLA3_ENST00000361764.4_3'UTR	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	112										large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413																																						ENST00000370940.5																			0				large_intestine(3)|lung(1)	4						c.(238-240)Cga>Tga		HERV-H LTR-associating 3							9	10	10					1																	70832204		2158	4207	6365	SO:0001583	missense	11147						protein binding	g.chr1:70832204C>T	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.335C>T	1.37:g.70832204C>T	ENSP00000352938:p.Ala112Val					HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000361764.4_3'UTR	p.R80*	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN			2	354	+			0					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Nonsense_Mutation	SNP	ENST00000359875.5	37	c.238C>T	CCDS30753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.009|7.009	0.556444|0.556444	0.13436|0.13436	.|.	.|.	ENSG00000197568|ENSG00000197568	ENST00000359875;ENST00000531950|ENST00000370940;ENST00000432224	.|.	.|.	.|.	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|.	.|.	.|.	.|.	T|.	0.11793|.	0.0287|.	.|.	.|.	.|.	0.42570|0.42570	D|D	0.993172|0.993172	B|.	0.31611|.	0.331|.	B|.	0.17722|.	0.019|.	T|.	0.24119|.	-1.0169|.	6|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	112|.	Q9XRX5|.	HHLA3_HUMAN|.	V|X	112|80;113	.|.	ENSP00000352938:A112V|ENSP00000359978:R80X	A|R	+|+	2|1	0|2	HHLA3|HHLA3	70604792|70604792	0.003000|0.003000	0.15002|0.15002	0.016000|0.016000	0.15963|0.15963	0.016000|0.016000	0.09150|0.09150	0.283000|0.283000	0.18846|0.18846	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	GCG|CGA		0.413	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		9	82	0	0	0	1	0	9	82					T	70832204	C	T	70832204	3	4	79	1	0	0	0	0	1	0	0	0	7126	769	27	1	341	1	HHLA3	1	70832204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89678	70832204	178418417	705	11022											
PTGER3	5733	broad.mit.edu	37	chr1	71437417	71437417	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caactccgttctttcattatCtgttagaatagagagagaaa	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000414819.1_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						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)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTTTCATTATCTGTTAGAATA	0.303																																						ENST00000306666.5																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e4-1		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						102	110	107					1																	71437417		2203	4297	6500	SO:0001630	splice_region_variant	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.chr1:71437417C>T	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.1170-1G>A	1.37:g.71437417C>T						PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron		NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN			4	1380	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000306666.5	37		CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260033	0.59321	.	.	ENSG00000050628	ENST00000306666	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3246	0.55003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGER3	71210005	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.904000	0.48719	2.605000	0.88082	0.650000	0.86243	.		0.303	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	Intron	13	488	0	0	0	1	0	13	488					T	71437417	C	T	71437417	5	4	79	1	0	0	0	0	0	0	1	0	12792	927	32	2	220	2	PTGER3	1	71437417	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605213	71437417	177813204	706	11023											
PTGER3	5733	broad.mit.edu	37	chr1	71512538	71512538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaaaggtgactgtcagCgccaagagccccaggaaggc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000306666.5	-	1	933	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000370924.4_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	241					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)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGACTGTCAGCGCCAAGAGCC	0.632																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(721-723)gcG>gcA		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						94	92	92					1																	71512538		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:71512538C>T	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.723G>A	1.37:g.71512538C>T						PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000306666.5_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A	p.A241A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	953	-			241					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	c.723G>A	CCDS657.1																																																																																				0.632	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		53	530	0	0	0	1	0	53	530					T	71512538	C	T	71512538	2	4	79	1	0	0	0	0	0	0	0	1	12792	755	27	1		1	PTGER3	1	71512538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75121	71512538	177738083	707	11024											
ZRANB2	9406	broad.mit.edu	37	chr1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagactttgagcgacttcGtctattagatttctttttat	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(601-603)Cga>Tga		zinc finger, RAN-binding domain containing 2							224	212	216					1																	71536592		2203	4300	6503	SO:0001587	stop_gained	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536592G>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.601C>T	1.37:g.71536592G>A	ENSP00000359958:p.Arg201*					ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	902	-			201			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Nonsense_Mutation	SNP	ENST00000370920.3	37	c.601C>T	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	38	7.206621	0.98136	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.76	3.75	0.43078	.	0.189634	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.2861	0.66247	0.0:0.0:0.6251:0.3749	.	.	.	.	X	201	.	ENSP00000254821:R201X	R	-	1	2	ZRANB2	71309180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	1.531000	0.49152	0.650000	0.86243	CGA		0.408	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		50	427	0	0	0	1	0	50	427					A	71536592	G	A	71536592	4	1	79	1	0	0	0	0	0	1	0	0	18276	1153	40	1	445	1	ZRANB2	1	71536592	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24054	71536592	177714029	708	11025											
NEGR1	257194	broad.mit.edu	37	chr1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaagagtgacgttggttcCttcattgacggtcatatcat	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	153	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(457-459)Gga>Aga		neuronal growth regulator 1							115	104	107					1																	72241933		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241933C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.457G>A	1.37:g.72241933C>T	ENSP00000350364:p.Gly153Arg					NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR	p.G153R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	696	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	153			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.457G>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679154	0.68042	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.946	D	0.93664	0.6984	10	0.87932	D	0	-8.9553	18.9902	0.92788	0.0:1.0:0.0:0.0	.	151;153	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	R	153;25;151	ENSP00000350364:G153R;ENSP00000305938:G25R;ENSP00000413294:G151R	ENSP00000305938:G25R	G	-	1	0	NEGR1	72014521	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.137000	0.77295	2.780000	0.95670	0.655000	0.94253	GGA		0.388	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		16	103	0	0	0	1	0	16	103					T	72241933	C	T	72241933	3	4	79	1	0	0	0	0	1	0	0	0	10359	690	24	2	627	2	NEGR1	1	72241933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705341	72241933	177008688	709	11026											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492596	74492596	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacaggctttttcaaaGgcaatcatatccataacaaa	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000395089.1	-	7	1775	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000354431.4_Silent_p.A592A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	592										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTTTCAAAGGCAATCATAT	0.284																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1774-1776)gcC>gcA		leucine-rich repeats and IQ motif containing 3							96	86	89					1																	74492596		1801	4057	5858	SO:0001819	synonymous_variant	127255							g.chr1:74492596G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1776C>A	1.37:g.74492596G>T						LRRIQ3_ENST00000395089.1_Silent_p.A592A	p.A592A	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	1967	-			592					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1776C>A	CCDS41350.1																																																																																				0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	143	1	0	0.307466	1	0.307576	8	143					T	74492596	G	T	74492596	2	4	79	1	0	0	0	0	0	0	0	1	9068	987	35	3		3	LRRIQ3	1	74492596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2250663	74492596	174758025	710	11027											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648414	74648414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggacaatcaaacatagtGagggcaatgagggttggaca	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74648414G>A	ENST00000395089.1	-	2	380	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRIQ3_ENST00000370911.3_Silent_p.L127L|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.L127L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	127										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACATAGTGAGGGCAATGA	0.373																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(379-381)ctC>ctT		leucine-rich repeats and IQ motif containing 3							104	98	100					1																	74648414		2203	4299	6502	SO:0001819	synonymous_variant	127255							g.chr1:74648414G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.381C>T	1.37:g.74648414G>A						LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Silent_p.L127L|LRRIQ3_ENST00000395089.1_Silent_p.L127L	p.L127L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	572	-			127					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.381C>T	CCDS41350.1																																																																																				0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		31	317	0	0	0	1	0	31	317					A	74648414	G	A	74648414	2	1	79	1	0	0	0	0	0	0	0	1	9068	1277	45	2		2	LRRIQ3	1	74648414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155818	74648414	174602207	711	11028											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649258	74649258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatagactttaaatgaagGccattgaacttcacaaaaac	5	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000395089.1	-	1	110	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000354431.4_Silent_p.G37G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	37										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttaaatgaaggccattgaact	0.333																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(109-111)ggC>ggT		leucine-rich repeats and IQ motif containing 3							57	60	59					1																	74649258		2201	4296	6497	SO:0001819	synonymous_variant	127255							g.chr1:74649258G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.111C>T	1.37:g.74649258G>A						LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000395089.1_Silent_p.G37G	p.G37G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	302	-			37					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.111C>T	CCDS41350.1																																																																																				0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		31	141	0	0	0	1	0	31	141					A	74649258	G	A	74649258	2	1	79	1	0	0	0	0	0	0	0	1	9068	1190	42	2		2	LRRIQ3	1	74649258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	844	74649258	174601363	712	11029											
FPGT	8790	broad.mit.edu	37	chr1	74665359	74665359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaataggcaaacttgtaGcacgtggagaattctgggac	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74665359G>A	ENST00000609362.1	+	2	131	c.94G>A	c.(94-96)Gca>Aca	p.A32T	FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A32T|FPGT_ENST00000467578.2_Missense_Mutation_p.A45T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A45T|FPGT_ENST00000534056.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A32T|FPGT_ENST00000370894.5_Missense_Mutation_p.A32T|FPGT_ENST00000370898.3_Missense_Mutation_p.A45T|LRRIQ3_ENST00000370911.3_5'Flank|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000482102.2_Missense_Mutation_p.A54T|LRRIQ3_ENST00000354431.4_5'Flank|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A32T	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	32					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CAAACTTGTAGCACGTGGAGA	0.373																																						ENST00000370895.1																			0											c.(94-96)Gca>Aca									91	91	91					1																	74665359		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665359G>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.94G>A	1.37:g.74665359G>A	ENSP00000476680:p.Ala32Thr					FPGT_ENST00000370898.2_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A32T|FPGT_ENST00000534056.1_Missense_Mutation_p.A32T|FPGT_ENST00000370894.4_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A32T|TNNI3K_ENST00000370893.1_Missense_Mutation_p.A32T|FPGT_ENST00000482102.2_Missense_Mutation_p.A54T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A32T|FPGT_ENST00000524915.1_Missense_Mutation_p.A32T|FPGT_ENST00000467578.2_Missense_Mutation_p.A32T	p.A32T			Q59H18	TNI3K_HUMAN			2	129	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.94G>A	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151391	0.38021	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.74421	1.59;1.02;-0.84;-0.55;-0.83;-0.83	4.9	0.643	0.17770	.	0.394219	0.23500	N	0.047517	T	0.30135	0.0755	L	0.29908	0.895	0.19300	N	0.99998	P;B;B;B;B;B	0.39094	0.659;0.007;0.001;0.002;0.355;0.031	B;B;B;B;B;B	0.28709	0.093;0.003;0.001;0.003;0.069;0.009	T	0.15809	-1.0424	10	0.48119	T	0.1	.	1.8757	0.03217	0.1882:0.3144:0.3613:0.1361	.	32;32;32;32;32;32	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	T	32;32;54;32;32;32;30;32;32;32;32;32;32	ENSP00000359935:A32T;ENSP00000432819:A32T;ENSP00000359936:A32T;ENSP00000359932:A32T;ENSP00000450895:A32T;ENSP00000359928:A32T	ENSP00000359928:A32T	A	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74437947	0.993000	0.37304	0.982000	0.44146	0.080000	0.17528	1.523000	0.35932	0.572000	0.29383	-0.291000	0.09656	GCA		0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				67	253	0	0	0	1	0	67	253					A	74665359	G	A	74665359	3	1	79	1	0	0	0	0	1	0	0	0	6064	971	34	2	100	2	FPGT	1	74665359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16101	74665359	174585262	713	11030											
TNNI3K	100526835	broad.mit.edu	37	chr1	74737313	74737313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatcacttctctgcttcAcagtggagctgatatacagc	8	10	3	2	rs143283898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74737313A>G	ENST00000370899.3	+	7	705	c.668A>G	c.(667-669)cAc>cGc	p.H223R	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H223R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H122R|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H236R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H223R	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCTCTGCTTCACAGTGGAGCT	0.448																																						ENST00000370895.1																			0											c.(667-669)cAc>cGc									212	202	205					1																	74737313		2203	4299	6502	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74737313A>G			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.668A>G	1.37:g.74737313A>G	ENSP00000359936:p.His223Arg					FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.H223R|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.H223R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H122R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H223R	p.H223R			Q59H18	TNI3K_HUMAN			7	703	+			122						Missense_Mutation	SNP	ENST00000370899.3	37	c.668A>G		.	.	.	.	.	.	.	.	.	.	A	19.24	3.789224	0.70337	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.03967	-0.31	0.58432	D	0.999994	P;D;P;D	0.57899	0.569;0.968;0.802;0.981	B;B;B;B	0.44163	0.442;0.33;0.33;0.443	T	0.26430	-1.0103	10	0.21540	T	0.41	.	15.3456	0.74334	1.0:0.0:0.0:0.0	.	122;223;223;223	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	R	223;223;223;223;122	ENSP00000359936:H223R;ENSP00000359932:H223R;ENSP00000450895:H223R;ENSP00000359928:H223R;ENSP00000322251:H122R	ENSP00000322251:H122R	H	+	2	0	RP11-653A5.2;AC093158.1	74509901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.896000	0.69822	2.266000	0.75297	0.533000	0.62120	CAC		0.448	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			22	677	0	0	0	1	0	22	677					G	74737313	A	G	74737313	3	3	79	1	0	0	0	0	1	0	0	0	16381	159	6	4	738	4	TNNI3K	1	74737313	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71954	74737313	174513308	714	11031											
TNNI3K	100526835	broad.mit.edu	37	chr1	74834768	74834768	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttccatcttcagctctcaGaaattgagttccatgagatt	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74834768G>T	ENST00000370899.3	+	16	1724	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	FPGT-TNNI3K_ENST00000370895.1_Nonsense_Mutation_p.E563*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E462*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.E576*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E563*|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCAGCTCTCAGAAATTGAGTT	0.328																																						ENST00000370895.1																			0											c.(1687-1689)Gaa>Taa									42	43	43					1																	74834768		2202	4299	6501	SO:0001587	stop_gained	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74834768G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1687G>T	1.37:g.74834768G>T	ENSP00000359936:p.Glu563*					FPGT-TNNI3K_ENST00000370899.3_Nonsense_Mutation_p.E563*|FPGT-TNNI3K_ENST00000557284.1_Nonsense_Mutation_p.E563*|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E462*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E563*	p.E563*			Q59H18	TNI3K_HUMAN			16	1722	+			462			Protein kinase.			Nonsense_Mutation	SNP	ENST00000370899.3	37	c.1687G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.032380|8.032380	0.98619|0.98619	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637|ENST00000526236	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.114197|.	0.64402|.	D|.	0.000011|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.54805|.	T|.	0.06|.	.|.	19.1989|19.1989	0.93701|0.93701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	563;563;563;563;462|8	.|.	ENSP00000322251:E462X|.	E|Q	+|+	1|3	0|2	RP11-653A5.2;AC093158.1|AC093158.1	74607356|74607356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.307000|9.307000	0.96226|0.96226	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.328	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			50	142	1	0	1.00221e-16	1	1.10252e-16	50	142					T	74834768	G	T	74834768	4	4	79	1	0	0	0	0	0	1	0	0	16381	943	33	3	1793	3	TNNI3K	1	74834768	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97455	74834768	174415853	715	11032											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			9	1062						9	1062	---	---	---	---	-	74957826	CTT	-	74957824	6	5	79	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-IB-7651-01A-11D-2154-08	123056	74957824	174292797	716	11033											
C1orf173	127254	broad.mit.edu	37	chr1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggaatttttcagctgctcCtgtctcctgcctcccatcgc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1469	Glu-rich.									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						TCAGCTGCTCCTGTCTCCTGC	0.582																																						ENST00000326665.5																			0				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						c.(4405-4407)Gga>Tga		chromosome 1 open reading frame 173							122	107	112					1																	75036989		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75036989C>A																												ENST00000326665.5:c.4405G>T	1.37:g.75036989C>A	ENSP00000322609:p.Gly1469*					C1orf173_ENST00000433746.2_5'UTR	p.G1469*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4623	-			1469			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.4405G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	43	9.919568	0.99295	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.40158	D	0.977036	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.6351	10.9771	0.47472	0.0:0.9068:0.0:0.0932	.	.	.	.	X	1469	.	ENSP00000322609:G1469X	G	-	1	0	C1orf173	74809577	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.475000	0.22164	0.995000	0.38917	-0.254000	0.11334	GGA		0.582	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			149	644	1	0	1.50172e-47	1	1.84921e-47	149	644					A	75036989	C	A	75036989	4	1	79	1	0	0	0	0	0	1	0	0	2021	690	24	3	191	3	C1orf173	1	75036989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79165	75036989	174213632	717	11034											
C1orf173	127254	broad.mit.edu	37	chr1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttttcctactaactcatcCtgttggtgccaggtttcttc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1390	Glu-rich.									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						CTAACTCATCCTGTTGGTGCC	0.517																																						ENST00000326665.5																			0				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						c.(4168-4170)caG>caT		chromosome 1 open reading frame 173							103	100	101					1																	75037224		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037224C>A																												ENST00000326665.5:c.4170G>T	1.37:g.75037224C>A	ENSP00000322609:p.Gln1390His					C1orf173_ENST00000433746.2_5'UTR	p.Q1390H	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4388	-			1390			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4170G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161345	0.21538	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	4.73	0.676	0.17958	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.34385	0.181	T	0.45585	-0.9251	9	0.46703	T	0.11	-1.062	8.0007	0.30295	0.0:0.5457:0.0:0.4543	.	1390	Q5RHP9	CA173_HUMAN	H	1390	ENSP00000322609:Q1390H	ENSP00000322609:Q1390H	Q	-	3	2	C1orf173	74809812	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.087000	0.14958	0.081000	0.16988	0.561000	0.74099	CAG		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			116	537	1	0	4.46965e-45	1	5.47738e-45	116	537					A	75037224	C	A	75037224	3	1	79	1	0	0	0	0	1	0	0	0	2021	680	24	3	426	3	C1orf173	1	75037224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	75037224	174213397	718	11035											
C1orf173	127254	broad.mit.edu	37	chr1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctggttcctctcccccaaGaattgcctcttcagaaccgt	8	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		975	Glu-rich.							p.L975I(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						TCTCCCCCAAGAATTGCCTCT	0.522																																						ENST00000326665.5																			1	Substitution - Missense(1)	p.L975I(1)	large_intestine(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						c.(2923-2925)Ctt>Ttt		chromosome 1 open reading frame 173							128	118	121					1																	75038471		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038471G>A																												ENST00000326665.5:c.2923C>T	1.37:g.75038471G>A	ENSP00000322609:p.Leu975Phe					C1orf173_ENST00000433746.2_5'UTR	p.L975F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3141	-			975			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2923C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669012	0.29604	.	.	ENSG00000178965	ENST00000326665	T	0.19394	2.15	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04588	0.0125	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.41070	-0.9529	9	0.52906	T	0.07	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	F	975	ENSP00000322609:L975F	ENSP00000322609:L975F	L	-	1	0	C1orf173	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			116	415	0	0	0	1	0	116	415					A	75038471	G	A	75038471	3	1	79	1	0	0	0	0	1	0	0	0	2021	942	33	2	1673	2	C1orf173	1	75038471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1247	75038471	174212150	719	11036											
C1orf173	127254	broad.mit.edu	37	chr1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtattcacaacaggagCttaacctgttcacctgcatc	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		363										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						ACAACAGGAGCTTAACCTGTT	0.443																																						ENST00000326665.5																			0				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						c.(1087-1089)aGc>aTc		chromosome 1 open reading frame 173							105	100	101					1																	75078406		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75078406C>A																												ENST00000326665.5:c.1088G>T	1.37:g.75078406C>A	ENSP00000322609:p.Ser363Ile					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I	p.S363I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			9	1306	-			363					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1088G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114819	0.94339	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.61980	0.56;0.06	5.63	5.63	0.86233	.	.	.	.	.	T	0.78941	0.4363	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80400	-0.1398	9	0.87932	D	0	-16.7027	19.649	0.95793	0.0:1.0:0.0:0.0	.	166;363	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	363;166	ENSP00000322609:S363I;ENSP00000398581:S166I	ENSP00000322609:S363I	S	-	2	0	C1orf173	74850994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.808000	0.96608	0.655000	0.94253	AGC		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			38	220	1	0	4.46736e-08	1	4.65807e-08	38	220					A	75078406	C	A	75078406	3	1	79	1	0	0	0	0	1	0	0	0	2021	797	28	3	3528	3	C1orf173	1	75078406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39935	75078406	174172215	720	11037											
TYW3	127253	broad.mit.edu	37	chr1	75204373	75204373	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccactgttcatttatttaGattgtagctctgaagaaagc	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000457880.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.e3-1		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)							121	114	116					1																	75204373		2203	4300	6503	SO:0001630	splice_region_variant	127253				tRNA processing		methyltransferase activity	g.chr1:75204373G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.256-1G>A	1.37:g.75204373G>A						TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Splice_Site		NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			3	344	+								B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Splice_Site	SNP	ENST00000370867.3	37		CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073238	0.36566	.	.	ENSG00000162623	ENST00000370867	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYW3	74976961	1.000000	0.71417	0.983000	0.44433	0.060000	0.15804	5.848000	0.69458	2.937000	0.99478	0.650000	0.86243	.		0.388	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467	Intron	26	133	0	0	0	1	0	26	133					A	75204373	G	A	75204373	5	1	79	1	0	0	0	0	0	0	1	0	16874	956	33	2	265	2	TYW3	1	75204373	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125967	75204373	174046248	721	11038											
LHX8	431707	broad.mit.edu	37	chr1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatcactcatcctccaccCcagtcacagcagtcccaccc	3	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(877-879)Cca>Tca		LIM homeobox 8							283	248	260					1																	75622644		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622644C>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.877C>T	1.37:g.75622644C>T	ENSP00000294638:p.Pro293Ser					LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	p.P293S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1541	+			293					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.877C>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799984	0.50208	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.22	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.80914	0.4715	L	0.55481	1.735	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.77688	-0.2494	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	S	293;283	ENSP00000294638:P293S;ENSP00000348597:P283S	ENSP00000294638:P293S	P	+	1	0	LHX8	75395232	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA		0.512	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		106	411	0	0	0	1	0	106	411					T	75622644	C	T	75622644	3	4	79	1	0	0	0	0	1	0	0	0	8808	623	22	2	907	2	LHX8	1	75622644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418271	75622644	173627977	722	11039											
SLC44A5	204962	broad.mit.edu	37	chr1	75683558	75683558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatcttacgtttaagAcggtggtccaagtattctag	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	539					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1615-1617)cgT>cgC		solute carrier family 44, member 5							55	57	56					1																	75683558		2203	4299	6502	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683558A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1617T>C	1.37:g.75683558A>G						SLC44A5_ENST00000370859.3_Silent_p.R539R|SLC44A5_ENST00000535611.1_Silent_p.R409R	p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1730	-			539					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.1617T>C	CCDS667.1																																																																																				0.358	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		23	140	0	0	0	1	0	23	140					G	75683558	A	G	75683558	2	3	79	1	0	0	0	0	0	0	0	1	14689	262	10	4		4	SLC44A5	1	75683558	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60914	75683558	173567063	723	11040											
SLC44A5	204962	broad.mit.edu	37	chr1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataattaaagatccaaatgCtagggatcctgtgtgatatc	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	517					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289																																						ENST00000370855.5																			1	Substitution - Missense(1)	p.A517S(1)	large_intestine(1)	kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1549-1551)Gca>Aca		solute carrier family 44, member 5							49	53	52					1																	75683626		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683626C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1549G>A	1.37:g.75683626C>T	ENSP00000359892:p.Ala517Thr					SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T	p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1662	-			517					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1549G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341665	0.95783	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.30182	1.54;1.54;1.54	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.64940	0.2644	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.993;0.994;0.993;0.974;0.99	T	0.73401	-0.3994	10	0.62326	D	0.03	-18.1034	20.3261	0.98701	0.0:1.0:0.0:0.0	.	511;556;517;517;556	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	517;556;517;387;510	ENSP00000359896:A517T;ENSP00000359892:A517T;ENSP00000443090:A387T	ENSP00000359892:A517T	A	-	1	0	SLC44A5	75456214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GCA		0.289	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		33	130	0	0	0	1	0	33	130					T	75683626	C	T	75683626	3	4	79	1	0	0	0	0	1	0	0	0	14689	797	28	2	749	2	SLC44A5	1	75683626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	75683626	173566995	724	11041											
SLC44A5	204962	broad.mit.edu	37	chr1	75684943	75684943	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttcttgtacttaccTctgggtcacaggtttgattt	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	422					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGTACTTACCTCTGGGTCACA	0.413																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e16+1		solute carrier family 44, member 5							94	89	91					1																	75684943		2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684943T>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1266+1A>G	1.37:g.75684943T>C						SLC44A5_ENST00000370859.3_Splice_Site_p.E422_splice|SLC44A5_ENST00000535611.1_Splice_Site_p.E292_splice	p.E422_splice	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			16	1378	-			422					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.1266_splice	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532786	0.45073	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15372	2.86;2.86;2.43	4.85	0.696	0.18075	.	0.429376	0.26373	N	0.024753	T	0.07369	0.0186	L	0.56769	1.78	0.43385	D	0.995495	B;B;B;B;B	0.23650	0.01;0.041;0.089;0.008;0.072	B;B;B;B;B	0.31547	0.048;0.081;0.125;0.028;0.132	T	0.09292	-1.0681	10	0.29301	T	0.29	-0.3	8.0219	0.30415	0.1248:0.0:0.2596:0.6156	.	416;461;422;422;461	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	G	422;461;422;292;415	ENSP00000359896:E422G;ENSP00000359892:E422G;ENSP00000443090:E292G	ENSP00000359892:E422G	E	-	2	0	SLC44A5	75457531	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.313000	0.43735	0.251000	0.21505	0.533000	0.62120	GAG		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Missense_Mutation	11	252	0	0	0	1	0	11	252					C	75684943	T	C	75684943	5	2	79	1	0	0	0	0	0	0	1	0	14689	1565	54	4	1041	4	SLC44A5	1	75684943	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1317	75684943	173565678	725	11042											
SLC44A5	204962	broad.mit.edu	37	chr1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttacttgcttccttcCttcagcaggataatggcgac	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	358					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1072-1074)aaG>aaT		solute carrier family 44, member 5							141	126	131					1																	75688057		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75688057C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1074G>T	1.37:g.75688057C>A	ENSP00000359892:p.Lys358Asn					SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N|SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N	p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			14	1187	-			358					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1074G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319973	0.60634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27557	1.66;1.66;1.66	5.06	4.14	0.48551	.	0.189164	0.56097	D	0.000037	T	0.41003	0.1140	M	0.85462	2.755	0.58432	D	0.99999	P;P;P;B;P	0.51351	0.767;0.944;0.767;0.338;0.883	P;P;P;B;P	0.56865	0.562;0.808;0.562;0.328;0.565	T	0.48151	-0.9060	10	0.66056	D	0.02	-5.5689	9.8266	0.40916	0.0:0.7842:0.1415:0.0743	.	352;397;358;358;397	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	358;397;358;228;351	ENSP00000359896:K358N;ENSP00000359892:K358N;ENSP00000443090:K228N	ENSP00000359892:K358N	K	-	3	2	SLC44A5	75460645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.368000	0.34216	1.444000	0.47605	0.655000	0.94253	AAG		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		27	181	1	0	2.81731e-10	1	2.98404e-10	27	181					A	75688057	C	A	75688057	3	1	79	1	0	0	0	0	1	0	0	0	14689	680	24	3	1240	3	SLC44A5	1	75688057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3114	75688057	173562564	726	11043											
SLC44A5	204962	broad.mit.edu	37	chr1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttctacaacacttcttGtccctccatttccatcttga	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	208					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(622-624)aCa>aTa		solute carrier family 44, member 5							188	161	170					1																	75704231		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75704231G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.623C>T	1.37:g.75704231G>A	ENSP00000359892:p.Thr208Ile					SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I	p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			10	736	-			208					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.623C>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435159	0.12045	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.87;2.86;2.48	4.9	-1.86	0.07760	.	1.053510	0.07321	N	0.877559	T	0.02848	0.0085	L	0.39085	1.19	0.09310	N	1	B;B;B;B;B	0.16603	0.001;0.01;0.004;0.007;0.018	B;B;B;B;B	0.17979	0.003;0.005;0.003;0.02;0.012	T	0.46555	-0.9183	10	0.33141	T	0.24	0.6744	4.3939	0.11353	0.3631:0.0:0.3885:0.2484	.	202;247;208;208;247	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	208;247;208;78;201	ENSP00000359896:T208I;ENSP00000359892:T208I;ENSP00000443090:T78I	ENSP00000359892:T208I	T	-	2	0	SLC44A5	75476819	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.285000	0.08410	-0.293000	0.08986	-0.218000	0.12543	ACA		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		54	233	0	0	0	1	0	54	233					A	75704231	G	A	75704231	3	1	79	1	0	0	0	0	1	0	0	0	14689	1377	48	2	1707	2	SLC44A5	1	75704231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16174	75704231	173546390	727	11044											
MSH4	4438	broad.mit.edu	37	chr1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggcggtttccccgtcgtCgggagaaacccgctcacctc	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039). {ECO:0000305}.	ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(58-60)tCg>tTg	Mismatch excision repair (MMR)	mutS homolog 4							35	36	35					1																	76262729		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76262729C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.59C>T	1.37:g.76262729C>T	ENSP00000263187:p.Ser20Leu						p.S20L	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			1	163	+			20	SS -> VV (in Ref. 1; AAB72039).				Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.59C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293483	0.23564	.	.	ENSG00000057468	ENST00000263187	D	0.90261	-2.64	3.47	-0.0349	0.13894	.	5.525940	0.00481	N	0.000125	T	0.60157	0.2247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60796	-0.7192	10	0.15499	T	0.54	-0.5266	4.8	0.13292	0.0:0.5245:0.2406:0.2349	.	20	O15457	MSH4_HUMAN	L	20	ENSP00000263187:S20L	ENSP00000263187:S20L	S	+	2	0	MSH4	76035317	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.061000	0.14366	-0.003000	0.14444	0.462000	0.41574	TCG		0.602	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		19	262	0	0	0	1	0	19	262					T	76262729	C	T	76262729	3	4	79	1	0	0	0	0	1	0	0	0	9913	893	31	1	61	1	MSH4	1	76262729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558498	76262729	172987892	728	11045											
MSH4	4438	broad.mit.edu	37	chr1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatagcaagaagaacatAcacagagattgtagatgaca	9	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	505					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1513-1515)tAc>tGc	Mismatch excision repair (MMR)	mutS homolog 4							117	113	114					1																	76343977		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76343977A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1514A>G	1.37:g.76343977A>G	ENSP00000263187:p.Tyr505Cys						p.Y505C	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			11	1618	+			505					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1514A>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135364	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.89810	-2.57	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.123368	0.56097	D	0.000025	D	0.94515	0.8234	M	0.88310	2.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95277	0.8382	10	0.62326	D	0.03	-2.2644	15.5975	0.76599	1.0:0.0:0.0:0.0	.	505	O15457	MSH4_HUMAN	C	505	ENSP00000263187:Y505C	ENSP00000263187:Y505C	Y	+	2	0	MSH4	76116565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.082000	0.62665	0.528000	0.53228	TAC		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		36	249	0	0	0	1	0	36	249					G	76343977	A	G	76343977	3	3	79	1	0	0	0	0	1	0	0	0	9913	391	14	4	1556	4	MSH4	1	76343977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81248	76343977	172906644	729	11046											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcctacacatacaggcGgccccttcgaactcactatg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	56					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(166-168)cGg>cAg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							139	125	130					1																	76779638		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779638G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.167G>A	1.37:g.76779638G>A	ENSP00000329214:p.Arg56Gln					ST6GALNAC3_ENST00000464140.1_3'UTR	p.R56Q	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			2	315	+			56					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.167G>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385694	0.25031	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	2.17	0.27698	.	0.456464	0.24298	N	0.039741	T	0.03136	0.0092	N	0.03115	-0.41	0.22521	N	0.99902	B;B	0.24368	0.102;0.009	B;B	0.17722	0.019;0.002	T	0.45512	-0.9256	10	0.13108	T	0.6	-44.1687	7.3081	0.26459	0.3809:0.0:0.6191:0.0	.	56;56	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	56;56;55	ENSP00000329214:R56Q	ENSP00000329214:R56Q	R	+	2	0	ST6GALNAC3	76552226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.749000	0.38319	0.523000	0.28482	0.491000	0.48974	CGG		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		27	333	0	0	0	1	0	27	333					A	76779638	G	A	76779638	3	1	79	1	0	0	0	0	1	0	0	0	15277	1116	39	1	173	1	ST6GALNAC3	1	76779638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435661	76779638	172470983	730	11047											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77528857	77528857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaaccagaatcacttgCtataaatcatcctgagaata	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:77528857C>A	ENST00000477717.1	+	5	1212	c.977C>A	c.(976-978)gCt>gAt	p.A326D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	326					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAATCACTTGCTATAAATCAT	0.423																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(976-978)gCt>gAt		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							100	94	96					1																	77528857		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77528857C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.977C>A	1.37:g.77528857C>A	ENSP00000417583:p.Ala326Asp						p.A326D	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			5	1212	+			326					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.977C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585205	0.46110	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.34859	1.34	5.93	5.03	0.67393	.	0.490215	0.23922	N	0.043231	T	0.12263	0.0298	L	0.29908	0.895	0.19775	N	0.99996	B	0.15473	0.013	B	0.18561	0.022	T	0.14144	-1.0483	10	0.19147	T	0.46	-20.5352	15.0068	0.71519	0.0:0.9318:0.0:0.0682	.	326	Q9BVH7	SIA7E_HUMAN	D	326;236	ENSP00000417583:A326D	ENSP00000406658:A236D	A	+	2	0	ST6GALNAC5	77301445	0.886000	0.30341	0.800000	0.32199	0.652000	0.38707	3.612000	0.54142	1.511000	0.48818	0.655000	0.94253	GCT		0.423	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		7	405	1	0	2.0095e-06	1	2.07161e-06	7	405					A	77528857	C	A	77528857	3	1	79	1	0	0	0	0	1	0	0	0	15279	797	28	3	995	3	ST6GALNAC5	1	77528857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749219	77528857	171721764	731	11048											
ZZZ3	26009	broad.mit.edu	37	chr1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaatcctggcaatgccaccGaacaccctggatgggttcta	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2503-2505)Cgg>Tgg		zinc finger, ZZ-type containing 3							60	58	59					1																	78031830		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031830G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2503C>T	1.37:g.78031830G>A	ENSP00000359837:p.Arg835Trp					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	p.R835W	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			14	2978	-			835					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2503C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96554	-4.05;-4.05	5.23	4.3	0.51218	Zinc finger, ZZ-type (4);	0.000000	0.64402	D	0.000001	D	0.98182	0.9399	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;D;D	0.65987	0.809;0.94;0.917	D	0.99167	1.0863	10	0.87932	D	0	.	16.0294	0.80567	0.0:0.1346:0.8654:0.0	.	341;835;834	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	W	835;341	ENSP00000359837:R835W;ENSP00000359834:R341W	ENSP00000359834:R341W	R	-	1	2	ZZZ3	77804418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.698000	0.84413	1.301000	0.44836	0.655000	0.94253	CGG		0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		18	73	0	0	0	1	0	18	73					A	78031830	G	A	78031830	3	1	79	1	0	0	0	0	1	0	0	0	18309	1057	37	1	216	1	ZZZ3	1	78031830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502973	78031830	171218791	732	11049											
ZZZ3	26009	broad.mit.edu	37	chr1	78034018	78034018	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattaaatagaacttaccTtaaagcccacatgttgcaca	4	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000370798.1_Splice_Site_p.K328T|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	822					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.e13+1		zinc finger, ZZ-type containing 3							77	81	80					1																	78034018		2203	4299	6502	SO:0001630	splice_region_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78034018T>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2466+1A>C	1.37:g.78034018T>G						ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site_p.K328_splice	p.K822_splice	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			13	2940	-			822					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Splice_Site	SNP	ENST00000370801.3	37	c.2466_splice	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552257	0.86127	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91407	-2.84;-2.84	5.46	5.46	0.80206	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	L	0.28740	0.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.90468	0.4451	10	0.38643	T	0.18	.	15.8471	0.78901	0.0:0.0:0.0:1.0	.	328;822;821	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	T	822;328	ENSP00000359837:K822T;ENSP00000359834:K328T	ENSP00000359834:K328T	K	-	2	0	ZZZ3	77806606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.208000	0.71279	0.528000	0.53228	AAG		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	Missense_Mutation	83	290	0	0	0	1	0	83	290					G	78034018	T	G	78034018	5	3	79	1	0	0	0	0	0	0	1	0	18309	1623	56	4	258	4	ZZZ3	1	78034018	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2188	78034018	171216603	733	11050											
ZZZ3	26009	broad.mit.edu	37	chr1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattacctgttcttcaacaGtccacaactggttaaatgtt	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1966-1968)aCt>aAt		zinc finger, ZZ-type containing 3							171	165	167					1																	78046696		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78046696G>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1967C>A	1.37:g.78046696G>T	ENSP00000359837:p.Thr656Asn					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N	p.T656N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			9	2442	-			656			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1967C>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250996	0.80135	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	T	0.80864	0.4705	M	0.93106	3.38	0.80722	D	1	B;D;P	0.71674	0.447;0.998;0.934	B;D;P	0.69479	0.147;0.964;0.603	D	0.84252	0.0478	10	0.72032	D	0.01	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	656;162	ENSP00000359837:T656N;ENSP00000359834:T162N	ENSP00000359834:T162N	T	-	2	0	ZZZ3	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT		0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		42	534	1	0	9.84934e-19	1	1.0948e-18	42	534					T	78046696	G	T	78046696	3	4	79	1	0	0	0	0	1	0	0	0	18309	1029	36	3	772	3	ZZZ3	1	78046696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12678	78046696	171203925	734	11051											
ZZZ3	26009	broad.mit.edu	37	chr1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatatttacacatactcTttgttgtgtttcagtgccac	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	501					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1501-1503)aaA>aaC		zinc finger, ZZ-type containing 3							91	87	88					1																	78097537		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097537T>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1503A>C	1.37:g.78097537T>G	ENSP00000359837:p.Lys501Asn					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	p.K501N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1978	-			501					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1503A>C	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404934	0.42613	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.74023	0.982;0.82;0.913	T	0.72868	-0.4162	9	0.56958	D	0.05	.	15.755	0.78015	0.0:0.0:0.0:1.0	.	501;501;501	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	501	.	ENSP00000359837:K501N	K	-	3	2	ZZZ3	77870125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.266000	0.75297	0.533000	0.62120	AAA		0.348	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		59	214	0	0	0	1	0	59	214					G	78097537	T	G	78097537	3	3	79	1	0	0	0	0	1	0	0	0	18309	1606	56	4	1252	4	ZZZ3	1	78097537	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50841	78097537	171153084	735	11052											
USP33	23032	broad.mit.edu	37	chr1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatgcaataaaaagtagCtggagagtcctctttttgga	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	845	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2533-2535)Gct>Tct		ubiquitin specific peptidase 33							115	125	122					1																	78167123		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78167123C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2533G>T	1.37:g.78167123C>A	ENSP00000359829:p.Ala845Ser					USP33_ENST00000357428.1_Missense_Mutation_p.A845S|USP33_ENST00000370794.3_Missense_Mutation_p.A814S	p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			23	2879	-			845			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2533G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224830	0.22457	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09163	3.02;3.01;3.01	4.94	0.829	0.18847	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.401148	0.26324	N	0.025032	T	0.00906	0.0030	N	0.03608	-0.345	0.38218	D	0.940662	B	0.14012	0.009	B	0.21360	0.034	T	0.45906	-0.9229	10	0.05351	T	0.99	.	5.2312	0.15422	0.2897:0.4901:0.0:0.2202	.	845	Q8TEY7	UBP33_HUMAN	S	814;845;845	ENSP00000359830:A814S;ENSP00000359829:A845S;ENSP00000350009:A845S	ENSP00000350009:A845S	A	-	1	0	USP33	77939711	0.983000	0.35010	0.995000	0.50966	0.987000	0.75469	1.599000	0.36751	-0.028000	0.13850	0.484000	0.47621	GCT		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		46	515	1	0	1.23713e-20	1	1.38774e-20	46	515					A	78167123	C	A	78167123	3	1	79	1	0	0	0	0	1	0	0	0	17118	797	28	3	307	3	USP33	1	78167123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69586	78167123	171083498	736	11053											
USP33	23032	broad.mit.edu	37	chr1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccagatcatcaaataCggcaaccagaggagttttta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	165					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(493-495)Gta>Ata		ubiquitin specific peptidase 33							123	120	121					1																	78201795		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78201795C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.493G>A	1.37:g.78201795C>T	ENSP00000359829:p.Val165Ile					USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			7	839	-			165					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.493G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244701	0.59103	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30714	2.91;2.91;2.91;2.9;1.52	5.17	5.17	0.71159	.	1.261780	0.05306	N	0.523893	T	0.16811	0.0404	L	0.55481	1.735	0.30780	N	0.742131	B;P	0.51351	0.121;0.944	B;B	0.36092	0.044;0.217	T	0.06991	-1.0796	10	0.38643	T	0.18	.	13.3687	0.60701	0.0:0.9237:0.0:0.0763	.	165;165	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	I	134;165;165;165;165	ENSP00000359830:V134I;ENSP00000359829:V165I;ENSP00000350009:V165I;ENSP00000359828:V165I;ENSP00000434441:V165I	ENSP00000350009:V165I	V	-	1	0	USP33	77974383	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.178000	0.58284	2.589000	0.87451	0.491000	0.48974	GTA		0.343	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		70	287	0	0	0	1	0	70	287					T	78201795	C	T	78201795	3	4	79	1	0	0	0	0	1	0	0	0	17118	536	19	1	2423	1	USP33	1	78201795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34672	78201795	171048826	737	11054											
NEXN	91624	broad.mit.edu	37	chr1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttcatctaaacctgTcccaaaaacctatgtaccaa	3	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTAAACCTGTCCCAAAAACC	0.338																																						ENST00000334785.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(52-54)gTc>gCc		nexilin (F actin binding protein)							69	62	64					1																	78383276		1818	4083	5901	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383276T>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.53T>C	1.37:g.78383276T>C	ENSP00000333938:p.Val18Ala					NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	p.V18A	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	237	+			18						Missense_Mutation	SNP	ENST00000334785.7	37	c.53T>C	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577398	0.65878	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.72505	-0.25;-0.66;-0.25;-0.55	5.51	5.51	0.81932	.	0.620166	0.13881	N	0.356346	T	0.56366	0.1980	L	0.54323	1.7	0.34155	D	0.668015	B	0.28971	0.229	B	0.25405	0.06	T	0.63686	-0.6581	10	0.87932	D	0	-0.3105	15.9178	0.79535	0.0:0.0:0.0:1.0	.	18	Q0ZGT2	NEXN_HUMAN	A	18	ENSP00000388048:V18A;ENSP00000294624:V18A;ENSP00000333938:V18A;ENSP00000411902:V18A	ENSP00000294624:V18A	V	+	2	0	NEXN	78155864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.216000	0.71823	0.533000	0.62120	GTC		0.338	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		47	147	0	0	0	1	0	47	147					C	78383276	T	C	78383276	3	2	79	1	0	0	0	0	1	0	0	0	10397	1667	58	4	59	4	NEXN	1	78383276	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181481	78383276	170867345	738	11055											
NEXN	91624	broad.mit.edu	37	chr1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtttagaagaagagaagcGtgcttttgaagaagcaaggc	13	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000334785.7	+	8	1020	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_ENST00000457030.1_Missense_Mutation_p.R265H|NEXN_ENST00000330010.8_Missense_Mutation_p.R215H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGAAGCGTGCTTTTGAA	0.348																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(643-645)cGt>cAt		nexilin (F actin binding protein)							86	84	85					1																	78392549		1848	4103	5951	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392549G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.836G>A	1.37:g.78392549G>A	ENSP00000333938:p.Arg279His					NEXN_ENST00000334785.7_Missense_Mutation_p.R279H|NEXN_ENST00000457030.1_Missense_Mutation_p.R265H	p.R215H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	7	941	+			279			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.644G>A	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042667|3.042667	0.55003|0.55003	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.68765|.	-0.31;-0.01;-0.11;-0.04;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.50627|.	D|.	0.000105|.	T|T	0.74076|0.74076	0.3669|0.3669	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.68621|.	0.911;0.959;0.947;0.911|.	T|T	0.73341|0.73341	-0.4013|-0.4013	10|5	0.52906|.	T|.	0.07|.	-7.3584|-7.3584	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;265;279;215|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	H|M	215;265;215;279;265|179	ENSP00000383814:R215H;ENSP00000388048:R265H;ENSP00000327363:R215H;ENSP00000333938:R279H;ENSP00000411902:R265H|.	ENSP00000327363:R215H|.	R|V	+|+	2|1	0|0	NEXN|NEXN	78165137|78165137	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.491000|0.491000	0.33493|0.33493	4.816000|4.816000	0.62642|0.62642	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.348	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		49	357	0	0	0	1	0	49	357					A	78392549	G	A	78392549	3	1	79	1	0	0	0	0	1	0	0	0	10397	1145	40	1	862	1	NEXN	1	78392549	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	78392549	170858072	739	11056											
GIPC2	54810	broad.mit.edu	37	chr1	78546358	78546358	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acattttatttttctttgcaGatcttatattgcactttaaa	3	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.e2-1		GIPC PDZ domain containing family, member 2							101	104	103					1																	78546358		2203	4300	6503	SO:0001630	splice_region_variant	54810					cytoplasm		g.chr1:78546358G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.241-1G>A	1.37:g.78546358G>A						GIPC2_ENST00000476882.1_Splice_Site		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			2	433	+								Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	37		CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322948	0.81580	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.02	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7102	0.69225	0.0687:0.0:0.9313:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78318946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	.		0.318	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	Intron	34	386	0	0	0	1	0	34	386					A	78546358	G	A	78546358	5	1	79	1	0	0	0	0	0	0	1	0	6422	956	33	2	246	2	GIPC2	1	78546358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153809	78546358	170704263	740	11057											
GIPC2	54810	broad.mit.edu	37	chr1	78585184	78585184	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaccgtggaagaaatgGtatgttatgttcatttactt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	ENST00000370759.3	+	4	907		c.e4+1			NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGAAGAAATGGTATGTTATGT	0.398																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.e4+1		GIPC PDZ domain containing family, member 2							136	132	133					1																	78585184		2203	4300	6503	SO:0001630	splice_region_variant	54810					cytoplasm		g.chr1:78585184G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.714+1G>A	1.37:g.78585184G>A								NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			4	907	+								Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	37		CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645851	0.29246	.	.	ENSG00000137960	ENST00000370759	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.954	0.71098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78357772	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	5.978000	0.70501	2.678000	0.91216	0.655000	0.94253	.		0.398	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	Intron	14	117	0	0	0	1	0	14	117					A	78585184	G	A	78585184	5	1	79	1	0	0	0	0	0	0	1	0	6422	1275	44	2	729	2	GIPC2	1	78585184	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38826	78585184	170665437	741	11058											
PTGFR	5737	broad.mit.edu	37	chr1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaataaatggaaatcattctCtggaaacctgtgaaacaaca	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358																																						ENST00000370757.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(838-840)Ctg>Atg		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						103	109	107					1																	79002130		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002130C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.838C>A	1.37:g.79002130C>A	ENSP00000359793:p.Leu280Met					PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M|PTGFR_ENST00000370756.3_3'UTR	p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1075	+			280					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.838C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663819	0.14710	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.73152	-0.72;-0.72	5.66	-0.169	0.13339	GPCR, rhodopsin-like superfamily (1);	1.923520	0.02399	N	0.080461	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37508	0.252	T	0.26503	-1.0101	10	0.46703	T	0.11	5.3371	4.3889	0.11330	0.4355:0.356:0.0867:0.1217	.	280	P43088	PF2R_HUMAN	M	280	ENSP00000359794:L280M;ENSP00000359793:L280M	ENSP00000359793:L280M	L	+	1	2	PTGFR	78774718	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	-0.129000	0.10515	0.057000	0.16193	0.655000	0.94253	CTG		0.358	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		36	412	1	0	1.90571e-15	1	2.08261e-15	36	412					A	79002130	C	A	79002130	3	1	79	1	0	0	0	0	1	0	0	0	12797	912	32	3	919	3	PTGFR	1	79002130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416946	79002130	170248491	742	11059											
IFI44L	10964	broad.mit.edu	37	chr1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gataacctagacgacataaaGaggataattaaagccagaga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	169					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(505-507)aaG>aaT		interferon-induced protein 44-like							85	88	87					1																	79094664		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79094664G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.507G>T	1.37:g.79094664G>T	ENSP00000359787:p.Lys169Asn					IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	p.K169N	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			3	686	+			169					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.507G>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	3.842	-0.033663	0.07543	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.15256	3.04;2.44	2.88	-1.53	0.08611	.	0.483713	0.17055	N	0.188776	T	0.03095	0.0091	N	0.25647	0.755	0.19300	N	0.99998	B	0.14805	0.011	B	0.15484	0.013	T	0.40887	-0.9539	10	0.39692	T	0.17	5.2127	6.8939	0.24245	0.1307:0.4212:0.4482:0.0	.	169	Q53G44	IF44L_HUMAN	N	169;146	ENSP00000359787:K169N;ENSP00000400784:K146N	ENSP00000359787:K169N	K	+	3	2	IFI44L	78867252	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.340000	0.07821	-0.322000	0.08615	-0.480000	0.04831	AAG		0.299	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		18	205	1	0	1.64293e-13	1	1.77503e-13	18	205					T	79094664	G	T	79094664	3	4	79	1	0	0	0	0	1	0	0	0	7548	933	33	3	513	3	IFI44L	1	79094664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92534	79094664	170155957	743	11060											
IFI44L	10964	broad.mit.edu	37	chr1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattcactgtgtggcttatgTcttagacatcaactctattg	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	322					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(964-966)gTc>gAc		interferon-induced protein 44-like							160	162	161					1																	79102805		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79102805T>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.965T>A	1.37:g.79102805T>A	ENSP00000359787:p.Val322Asp					IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	p.V322D	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			6	1144	+			322					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.965T>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808279	0.70797	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.56444	2.27;0.46	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000007	T	0.66674	0.2813	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73244	-0.4044	10	0.87932	D	0	-11.108	11.2061	0.48771	0.0:0.0:0.0:1.0	.	322	Q53G44	IF44L_HUMAN	D	322;64	ENSP00000359787:V322D;ENSP00000342833:V64D	ENSP00000342833:V64D	V	+	2	0	IFI44L	78875393	0.998000	0.40836	0.417000	0.26559	0.861000	0.49209	3.583000	0.53928	1.790000	0.52503	0.377000	0.23210	GTC		0.368	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		114	374	0	0	0	1	0	114	374					A	79102805	T	A	79102805	3	1	79	1	0	0	0	0	1	0	0	0	7548	1667	58	5	983	5	IFI44L	1	79102805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8141	79102805	170147816	744	11061											
ELTD1	64123	broad.mit.edu	37	chr1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttttgaacaatctgtAatattcttcttgaatctaaa	4	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	676					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACAATCTGTAATATTCTTCT	0.264																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(2026-2028)Tac>Cac		EGF, latrophilin and seven transmembrane domain containing 1							77	69	71					1																	79356886		1784	4048	5832	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79356886A>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.2026T>C	1.37:g.79356886A>G	ENSP00000359778:p.Tyr676His						p.Y676H	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	15	2089	-			676					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.2026T>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971281	0.34754	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.36672	1.1	0.45852	D	0.998713	B	0.20164	0.042	B	0.26094	0.066	T	0.08472	-1.0720	9	.	.	.	.	9.2697	0.37664	0.919:0.0:0.081:0.0	.	676	Q9HBW9	ELTD1_HUMAN	H	676;134	ENSP00000359778:Y676H;ENSP00000383813:Y134H	.	Y	-	1	0	ELTD1	79129474	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	3.996000	0.57009	2.035000	0.60131	0.533000	0.62120	TAC		0.264	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		25	147	0	0	0	1	0	25	147					G	79356886	A	G	79356886	3	3	79	1	0	0	0	0	1	0	0	0	5102	362	13	4	50	4	ELTD1	1	79356886	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254081	79356886	169893735	745	11062											
ELTD1	64123	broad.mit.edu	37	chr1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagatctgtcacagaatttCtatagacttcttgtagcaaa	6	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGAATTTCTATAGACTTC	0.318																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(442-444)aGa>aAa		EGF, latrophilin and seven transmembrane domain containing 1							60	55	57					1																	79403918		1798	4059	5857	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403918C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.443G>A	1.37:g.79403918C>T	ENSP00000359778:p.Arg148Lys						p.R148K	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	506	-			148					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.443G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	7.090	0.571971	0.13623	.	.	ENSG00000162618	ENST00000370742	T	0.09163	3.01	5.86	0.105	0.14535	Domain of unknown function DUF3497 (1);	0.462533	0.27831	N	0.017662	T	0.02193	0.0068	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46233	-0.9206	9	.	.	.	.	11.061	0.47946	0.0:0.5536:0.0:0.4464	.	148	Q9HBW9	ELTD1_HUMAN	K	148	ENSP00000359778:R148K	.	R	-	2	0	ELTD1	79176506	0.007000	0.16637	0.956000	0.39512	0.962000	0.63368	-0.065000	0.11617	0.102000	0.17638	0.650000	0.86243	AGA		0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		20	146	0	0	0	1	0	20	146					T	79403918	C	T	79403918	3	4	79	1	0	0	0	0	1	0	0	0	5102	913	32	2	1673	2	ELTD1	1	79403918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47032	79403918	169846703	746	11063											
LPHN2	23266	broad.mit.edu	37	chr1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggaggaaagactgatatcGacctagcagttgatgaaaat	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D265H(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.D265H(2)	lung(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(793-795)Gac>Aac		latrophilin 2							142	135	137					1																	82409048		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409048G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.793G>A	1.37:g.82409048G>A	ENSP00000359763:p.Asp265Asn					LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N	p.D265N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1438	+			265			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.793G>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	LPHN2	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		99	380	0	0	0	1	0	99	380					A	82409048	G	A	82409048	3	1	79	1	0	0	0	0	1	0	0	0	8954	1058	37	1	807	1	LPHN2	1	82409048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3005130	82409048	166841573	747	11064											
LPHN2	23266	broad.mit.edu	37	chr1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggaaccctaagggccccGatcttagcaactgtacctca	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N			O95490	LPHN2_HUMAN	latrophilin 2	517					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAGGGCCCCGATCTTAGCAA	0.423																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1549-1551)Gat>Aat		latrophilin 2							119	114	116					1																	82416758		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416758G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1549G>A	1.37:g.82416758G>A	ENSP00000359763:p.Asp517Asn					LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N	p.D517N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	10	2194	+			517					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1549G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.773127	0.90108	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.978;0.988	T	0.64257	-0.6450	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	517;517;517	O95490-3;O95490-4;O95490-2	.;.;.	N	455;517;517;517;517;517;517;517;517;517;517;517;517;517	ENSP00000359756:D455N;ENSP00000359763:D517N;ENSP00000359765:D517N;ENSP00000359762:D517N;ENSP00000359760:D517N;ENSP00000359758:D517N;ENSP00000353006:D517N;ENSP00000359750:D517N;ENSP00000359748:D517N;ENSP00000322270:D517N;ENSP00000359752:D517N;ENSP00000378344:D517N;ENSP00000271029:D517N;ENSP00000337306:D517N	ENSP00000271029:D517N	D	+	1	0	LPHN2	82189346	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		37	345	0	0	0	1	0	37	345					A	82416758	G	A	82416758	3	1	79	1	0	0	0	0	1	0	0	0	8954	1058	37	1	1571	1	LPHN2	1	82416758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7710	82416758	166833863	748	11065											
LPHN2	23266	broad.mit.edu	37	chr1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaatttattttccTaataggcattgataagacaa	6	6	0	3	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P			O95490	LPHN2_HUMAN	latrophilin 2	898					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L898P(1)|p.L885P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTATTTTCCTAATAGGCATT	0.368																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.L898P(1)|p.L885P(1)	kidney(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2692-2694)cTa>cCa		latrophilin 2		T	PRO/LEU	0,4406		0,0,2203	129	126	127		2654	5.1	1	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	885/1404	82435043	1,13005	2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82435043T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2693T>C	1.37:g.82435043T>C	ENSP00000359763:p.Leu898Pro					LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P	p.L898P			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	17	3338	+			898					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2693T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328568|4.328568	0.81690|0.81690	0.0|0.0	1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|.	0.86585|.	0.5968|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.994;0.998|.	D|.	0.91704|.	0.5376|.	10|.	0.87932|.	D|.	0|.	.|.	14.8239|14.8239	0.70094|0.70094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	885;885;885|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	P|Q	823;898;898;898;898;885;885;885;885;885;898;885;898;898|766	ENSP00000359756:L823P;ENSP00000359763:L898P;ENSP00000359765:L898P;ENSP00000359762:L898P;ENSP00000359760:L898P;ENSP00000359758:L885P;ENSP00000353006:L885P;ENSP00000359750:L885P;ENSP00000359748:L885P;ENSP00000322270:L885P;ENSP00000359752:L898P;ENSP00000378344:L885P;ENSP00000271029:L898P;ENSP00000337306:L898P|.	ENSP00000271029:L898P|.	L|X	+|+	2|1	0|0	LPHN2|LPHN2	82207631|82207631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.904000|1.904000	0.55121|0.55121	0.477000|0.477000	0.44152|0.44152	CTA|TAA		0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		45	395	0	0	0	1	0	45	395					C	82435043	T	C	82435043	3	2	79	1	0	0	0	0	1	0	0	0	8954	1522	53	4	2700	4	LPHN2	1	82435043	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18285	82435043	166815578	749	11066											
LPHN2	23266	broad.mit.edu	37	chr1	82450958	82450958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagagtcgtataagaagaAtgtggaatgatactgtgaga	12	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82450958A>G	ENST00000370728.1	+	23	4060	c.3415A>G	c.(3415-3417)Atg>Gtg	p.M1139V	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V			O95490	LPHN2_HUMAN	latrophilin 2	1139					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATAAGAAGAATGTGGAATGA	0.318																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3415-3417)Atg>Gtg		latrophilin 2							90	93	92					1																	82450958		2203	4296	6499	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450958A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3415A>G	1.37:g.82450958A>G	ENSP00000359763:p.Met1139Val					LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V	p.M1139V			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	23	4060	+			1139					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3415A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.025844|4.025844	0.75390|0.75390	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71579|.	-0.54;-0.58;-0.48;-0.42;-0.52;-0.47;-0.44;-0.4;-0.44;-0.52;-0.47;-0.42;-0.48|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.087808|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.993;0.999|.	D;D|.	0.81914|.	0.981;0.995|.	T|T	0.69914|0.69914	-0.5016|-0.5016	10|5	0.44086|.	T|.	0.13|.	.|.	15.0867|15.0867	0.72158|0.72158	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1126;1126|.	O95490-4;O95490-2|.	.;.|.	V|S	1064;1139;1139;1154;1154;1141;1126;1126;1126;1154;1141;1154;1139|144	ENSP00000359756:M1064V;ENSP00000359763:M1139V;ENSP00000359765:M1139V;ENSP00000359762:M1154V;ENSP00000359760:M1154V;ENSP00000359758:M1141V;ENSP00000353006:M1126V;ENSP00000359750:M1126V;ENSP00000322270:M1126V;ENSP00000359752:M1154V;ENSP00000378344:M1141V;ENSP00000271029:M1154V;ENSP00000337306:M1139V|.	ENSP00000271029:M1154V|.	M|N	+|+	1|2	0|0	LPHN2|LPHN2	82223546|82223546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.287000|9.287000	0.95975|0.95975	2.033000|2.033000	0.60031|0.60031	0.397000|0.397000	0.26171|0.26171	ATG|AAT		0.318	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		6	261	0	0	0	1	0	6	261					G	82450958	A	G	82450958	3	3	79	1	0	0	0	0	1	0	0	0	8954	101	4	4	3446	4	LPHN2	1	82450958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15915	82450958	166799663	750	11067											
TTLL7	79739	broad.mit.edu	37	chr1	84372050	84372050	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattctgcatctgactttcCtggaaaccggatcttcatgt	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84372050C>A	ENST00000260505.8	-	17	2466	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	697					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTGACTTTCCTGGAAACCGG	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2089-2091)Gga>Tga		tubulin tyrosine ligase-like family, member 7							157	158	157					1																	84372050		2203	4300	6503	SO:0001587	stop_gained	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84372050C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2089G>T	1.37:g.84372050C>A	ENSP00000260505:p.Gly697*					TTLL7_ENST00000477524.1_5'UTR	p.G697*	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	17	2466	-			697					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	c.2089G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	44	10.637590	0.99442	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	.	.	.	5.76	5.76	0.90799	.	0.437791	0.27068	N	0.021087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7465	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	697;474	.	ENSP00000260505:G697X	G	-	1	0	TTLL7	84144638	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.731000	0.74785	2.724000	0.93272	0.585000	0.79938	GGA		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		16	504	1	0	1.33834e-09	1	1.40959e-09	16	504					A	84372050	C	A	84372050	4	1	79	1	0	0	0	0	0	1	0	0	16786	690	24	3	594	3	TTLL7	1	84372050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1921092	84372050	164878571	751	11068											
TTLL7	79739	broad.mit.edu	37	chr1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgagcagaaaatgggCgggtgtccccactggaaggt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	619					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1855-1857)cGc>cAc		tubulin tyrosine ligase-like family, member 7							102	89	93					1																	84373275		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84373275C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1856G>A	1.37:g.84373275C>T	ENSP00000260505:p.Arg619His					TTLL7_ENST00000477524.1_5'UTR	p.R619H	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	16	2233	-			619					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1856G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012970	0.75161	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.34	5.34	0.76211	.	0.242690	0.40302	N	0.001129	T	0.06462	0.0166	M	0.64997	1.995	0.58432	D	0.999994	D	0.58620	0.983	B	0.41988	0.372	T	0.14282	-1.0478	10	0.87932	D	0	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	619	Q6ZT98	TTLL7_HUMAN	H	619;396;619	ENSP00000260505:R619H	ENSP00000260505:R619H	R	-	2	0	TTLL7	84145863	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	5.540000	0.67205	2.499000	0.84300	0.460000	0.39030	CGC		0.512	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		30	155	0	0	0	1	0	30	155					T	84373275	C	T	84373275	3	4	79	1	0	0	0	0	1	0	0	0	16786	768	27	1	831	1	TTLL7	1	84373275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	84373275	164877346	752	11069											
SSX2IP	117178	broad.mit.edu	37	chr1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccactgttttctgatgCtgtttgtaagctgctctctc	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000342203.3	-	9	1285	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413																																						ENST00000437941.2																			1	Substitution - Missense(1)	p.S341N(1)	ovary(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(940-942)aGc>aTc		synovial sarcoma, X breakpoint 2 interacting protein							146	132	137					1																	85124057		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85124057C>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1022G>T	1.37:g.85124057C>A	ENSP00000340279:p.Ser341Ile					SSX2IP_ENST00000342203.3_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I	p.S314I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	8	1293	-			341					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.941G>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194433	0.94960	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.55234	0.56;0.53	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.66386	0.2784	M	0.74258	2.255	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.97	P;P;P	0.59171	0.853;0.791;0.791	T	0.69101	-0.5234	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	341;314;337;341	ENSP00000340279:S341I;ENSP00000412781:S314I	ENSP00000340279:S341I	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		28	224	1	0	4.59853e-10	1	4.86106e-10	28	224					A	85124057	C	A	85124057	3	1	79	1	0	0	0	0	1	0	0	0	15256	797	28	3	846	3	SSX2IP	1	85124057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750782	85124057	164126564	753	11070											
MCOLN2	255231	broad.mit.edu	37	chr1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgagctttattgtcaAagataatctggagacacaaa	8	7	2	3	rs565640535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	252					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318													A|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(754-756)tTt>tGt		mucolipin 2							119	120	120					1																	85412808		2203	4297	6500	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85412808A>C	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.755T>G	1.37:g.85412808A>C	ENSP00000359640:p.Phe252Cys					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	p.F252C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	7	822	-			252					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.755T>G	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210170	0.58343	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.87029	-2.2;-2.2	5.76	4.62	0.57501	.	0.149988	0.64402	D	0.000008	D	0.90235	0.6947	M	0.84326	2.69	0.58432	D	0.999997	D	0.71674	0.998	P	0.60789	0.879	D	0.91260	0.5036	10	0.87932	D	0	-25.6273	11.5912	0.50947	0.854:0.0:0.0:0.146	.	252	Q8IZK6	MCLN2_HUMAN	C	252;224	ENSP00000359640:F252C;ENSP00000284027:F224C	ENSP00000284027:F224C	F	-	2	0	MCOLN2	85185396	1.000000	0.71417	0.906000	0.35671	0.586000	0.36452	7.081000	0.76844	0.984000	0.38629	0.472000	0.43445	TTT		0.318	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		60	249	0	0	0	1	0	60	249					C	85412808	A	C	85412808	3	2	79	1	0	0	0	0	1	0	0	0	9437	14	1	4	977	4	MCOLN2	1	85412808	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288751	85412808	163837813	754	11071											
MCOLN2	255231	broad.mit.edu	37	chr1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttccacggaatctggcGtctggctcggtatttttcac	10	11	3	0	rs201171839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18080	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(178-180)Cgc>Tgc		mucolipin 2							104	104	104					1																	85431291		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431291G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.178C>T	1.37:g.85431291G>A	ENSP00000359640:p.Arg60Cys					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	p.R60C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	245	-			60					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.178C>T	CCDS30762.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.177947	0.57692	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54279	0.58;0.58	5.87	2.85	0.33270	.	0.557733	0.21351	N	0.075975	T	0.31071	0.0785	L	0.47190	1.495	0.40235	D	0.977896	D	0.62365	0.991	B	0.43623	0.425	T	0.09509	-1.0671	10	0.62326	D	0.03	-28.1451	10.4417	0.44469	0.0598:0.1029:0.7311:0.1063	.	60	Q8IZK6	MCLN2_HUMAN	C	60;32	ENSP00000359640:R60C;ENSP00000284027:R32C	ENSP00000284027:R32C	R	-	1	0	MCOLN2	85203879	0.914000	0.31030	0.678000	0.29963	0.663000	0.39108	1.830000	0.39131	0.146000	0.19002	-0.797000	0.03246	CGC		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		24	244	0	0	0	1	0	24	244					A	85431291	G	A	85431291	3	1	79	1	0	0	0	0	1	0	0	0	9437	1145	40	1	1574	1	MCOLN2	1	85431291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	85431291	163819330	755	11072											
MCOLN3	55283	broad.mit.edu	37	chr1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatgacattgggcagcGctgcctgaagggtcaaaatg	13	9	1	3	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	408					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)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468																																						ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(1222-1224)gCg>gTg		mucolipin 3		G	VAL/ALA	0,4406		0,0,2203	87	84	85		1223	5.5	0.9	1	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MCOLN3	NM_018298.9	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	408/554	85487850	2,13004	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85487850G>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.1223C>T	1.37:g.85487850G>A	ENSP00000359621:p.Ala408Val					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V	p.A408V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	11	1275	-			408					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1223C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503460	0.85176	0.0	2.33E-4	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.88511	0.6456	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.958;0.982	D	0.88817	0.3296	10	0.52906	T	0.07	-20.4113	19.4397	0.94813	0.0:0.0:1.0:0.0	.	352;408	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	V	408;408;352;352	ENSP00000359621:A408V;ENSP00000342698:A352V	ENSP00000304843:A408V	A	-	2	0	MCOLN3	85260438	1.000000	0.71417	0.933000	0.37362	0.497000	0.33675	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	GCG		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		36	258	0	0	0	1	0	36	258					A	85487850	G	A	85487850	3	1	79	1	0	0	0	0	1	0	0	0	9438	1087	38	1	450	1	MCOLN3	1	85487850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56559	85487850	163762771	756	11073											
MCOLN3	55283	broad.mit.edu	37	chr1	85491722	85491722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgacaaattccatttgatcaGaaacagaaacttccttctta	4	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	ENST00000370589.2	-	9	1047	c.995C>T	c.(994-996)tCt>tTt	p.S332F	MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	332					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)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CATTTGATCAGAAACAGAAAC	0.338																																						ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(994-996)tCt>tTt		mucolipin 3							52	51	51					1																	85491722		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491722G>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.995C>T	1.37:g.85491722G>A	ENSP00000359621:p.Ser332Phe					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F	p.S332F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1047	-			332					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.995C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719362	0.68844	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76968	-1.06;-1.06	6.16	5.2	0.72013	.	0.265839	0.43919	D	0.000507	T	0.81805	0.4900	M	0.74881	2.28	0.39379	D	0.966227	P;P;D	0.53462	0.865;0.95;0.96	P;P;P	0.60609	0.77;0.877;0.815	T	0.81854	-0.0741	10	0.49607	T	0.09	-4.9798	11.3141	0.49381	0.0:0.1078:0.6668:0.2254	.	332;276;332	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	F	332;332;276;276	ENSP00000359621:S332F;ENSP00000342698:S276F	ENSP00000304843:S332F	S	-	2	0	MCOLN3	85264310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.292000	0.59031	2.937000	0.99478	0.650000	0.86243	TCT		0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		10	66	0	0	0	1	0	10	66					A	85491722	G	A	85491722	3	1	79	1	0	0	0	0	1	0	0	0	9438	942	33	2	686	2	MCOLN3	1	85491722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3872	85491722	163758899	757	11074											
WDR63	126820	broad.mit.edu	37	chr1	85570251	85570251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatcgaagtggaatatgCtgtcaacttgtcacatgttc	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	508										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGGAATATGCTGTCAACTTG	0.328																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1522-1524)tgC>tgT		WD repeat domain 63							172	162	165					1																	85570251		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85570251C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1524C>T	1.37:g.85570251C>T						WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	p.C508C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	14	1704	+			508					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.1524C>T	CCDS702.1																																																																																				0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		39	162	0	0	0	1	0	39	162					T	85570251	C	T	85570251	2	4	79	1	0	0	0	0	0	0	0	1	17368	805	28	2		2	WDR63	1	85570251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78529	85570251	163680370	758	11075											
SYDE2	84144	broad.mit.edu	37	chr1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctgtatcagaaggggcAccatcagtcctatattttct	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	831	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGAAGGGGCACCATCAGTCC	0.333																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(2491-2493)gTg>gCg		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							46	41	42					1																	85647833		1817	4077	5894	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85647833A>G	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2492T>C	1.37:g.85647833A>G	ENSP00000340594:p.Val831Ala						p.V831A	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	2541	-			831			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.2492T>C	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882579	0.72294	.	.	ENSG00000097096	ENST00000341460	T	0.50548	0.74	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.978;0.997	T	0.71646	-0.4530	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	831;831	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	831	ENSP00000340594:V831A	ENSP00000340594:V831A	V	-	2	0	SYDE2	85420421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	GTG		0.333	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	55	0	0	0	1	0	6	55					G	85647833	A	G	85647833	3	3	79	1	0	0	0	0	1	0	0	0	15488	159	6	4	1112	4	SYDE2	1	85647833	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77582	85647833	163602788	759	11076											
C1orf52	148423	broad.mit.edu	37	chr1	85724406	85724406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgaattcctttggaggCtgttaagcaagcacattaag	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	ENST00000471115.1	-	2	285		c.e2-1		C1orf52_ENST00000344356.5_Splice_Site|C1orf52_ENST00000294661.4_Splice_Site	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTTTGGAGGCTGTTAAGCAA	0.498																																						ENST00000471115.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10						c.e2-1		chromosome 1 open reading frame 52							46	40	42					1																	85724406		2202	4300	6502	SO:0001630	splice_region_variant	148423							g.chr1:85724406C>T	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.277-1G>A	1.37:g.85724406C>T						C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site		NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN		all cancers(265;0.0105)|Epithelial(280;0.0293)	2	285	-								B3KX89|Q8TDK5|Q8TDK6	Splice_Site	SNP	ENST00000471115.1	37		CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122420	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.936	0.89012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf52	85496994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.877000	0.75562	2.532000	0.85374	0.650000	0.86243	.		0.498	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077	Intron	6	102	0	0	0	1	0	6	102					T	85724406	C	T	85724406	5	4	79	1	0	0	0	0	0	0	1	0	2051	811	28	2	280	2	C1orf52	1	85724406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76573	85724406	163526215	760	11077											
DDAH1	23576	broad.mit.edu	37	chr1	85930637	85930637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcctcgcccttggcgcttCtcagcgcgtgctggccgagc	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85930637C>A	ENST00000284031.8	-	1	186	c.92G>T	c.(91-93)aGa>aTa	p.R31I	RP11-131L23.2_ENST00000610230.1_lincRNA|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000426972.3_5'Flank|DDAH1_ENST00000483110.1_Intron	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	31					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTTGGCGCTTCTCAGCGCGTG	0.751																																						ENST00000284031.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5						c.(91-93)aGa>aTa		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						6	7	7					1																	85930637		2103	4156	6259	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85930637C>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.92G>T	1.37:g.85930637C>A	ENSP00000284031:p.Arg31Ile					DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000483110.1_Intron	p.R31I	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	1	186	-			31					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.92G>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410933	0.42817	.	.	ENSG00000153904	ENST00000284031;ENST00000539042	.	.	.	4.52	4.52	0.55395	.	0.048785	0.52532	D	0.000069	T	0.68348	0.2991	M	0.81497	2.545	0.80722	D	1	D	0.55605	0.972	P	0.53861	0.736	T	0.70594	-0.4829	9	0.38643	T	0.18	-9.9586	17.2126	0.86935	0.0:1.0:0.0:0.0	.	31	O94760	DDAH1_HUMAN	I	31	.	ENSP00000284031:R31I	R	-	2	0	DDAH1	85703225	0.944000	0.32072	0.481000	0.27354	0.003000	0.03518	6.518000	0.73764	2.246000	0.74042	0.591000	0.81541	AGA		0.751	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			4	32	1	0	0.014758	1	0.0148251	4	32					A	85930637	C	A	85930637	3	1	79	1	0	0	0	0	1	0	0	0	4332	913	32	3	789	3	DDAH1	1	85930637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206231	85930637	163319984	761	11078											
CYR61	3491	broad.mit.edu	37	chr1	86047131	86047131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggctggtccgggacggCtgcggctgctgtaaggtctg	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RP11-290M5.4_ENST00000609367.1_lincRNA|CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(145-147)ggC>ggT		cysteine-rich, angiogenic inducer, 61							14	16	16					1																	86047131		2201	4297	6498	SO:0001819	synonymous_variant	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047131C>T	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.147C>T	1.37:g.86047131C>T			OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.G49G	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	2	371	+			49			IGFBP N-terminal.		O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	37	c.147C>T	CCDS706.1																																																																																				0.687	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		7	82	0	0	0	1	0	7	82					T	86047131	C	T	86047131	2	4	79	1	0	0	0	0	0	0	0	1	4210	784	28	2		2	CYR61	1	86047131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116494	86047131	163203490	762	11079											
CYR61	3491	broad.mit.edu	37	chr1	86047630	86047630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcagtcagagggcagaccCtgtgaatataactccagaat	10	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	99	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGGCAGACCCTGTGAATATA	0.453											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(295-297)ccC>ccA		cysteine-rich, angiogenic inducer, 61							112	131	125					1																	86047630		2203	4300	6503	SO:0001819	synonymous_variant	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047630C>A	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.297C>A	1.37:g.86047630C>A			OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.P99P	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	3	521	+			99			VWFC.		O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	37	c.297C>A	CCDS706.1																																																																																				0.453	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		20	756	1	0	2.94398e-08	1	3.0722e-08	20	756					A	86047630	C	A	86047630	2	1	79	1	0	0	0	0	0	0	0	1	4210	668	24	3		3	CYR61	1	86047630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	86047630	163202991	763	11080											
ZNHIT6	54680	broad.mit.edu	37	chr1	86167924	86167924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataccttgcctccgggcaCgatttttcataaagtacatc	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	ENST00000370574.3	-	5	1068	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R273H			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	312					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTCCGGGCACGATTTTTCAT	0.294																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(817-819)cGt>cAt		zinc finger, HIT-type containing 6							61	60	61					1																	86167924		2202	4299	6501	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86167924C>T	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.935G>A	1.37:g.86167924C>T	ENSP00000359606:p.Arg312His					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R312H	p.R273H	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			6	966	-			312					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.818G>A	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793802	0.90453	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48201	0.86;0.82	5.37	5.37	0.77165	.	0.192613	0.44483	D	0.000459	T	0.57946	0.2088	L	0.60455	1.87	0.45607	D	0.998545	D;D	0.76494	0.999;0.999	P;P	0.62184	0.793;0.899	T	0.59894	-0.7368	10	0.66056	D	0.02	-12.6765	19.0665	0.93113	0.0:1.0:0.0:0.0	.	273;312	B4DP13;Q9NWK9	.;BCD1_HUMAN	H	273;312	ENSP00000414344:R273H;ENSP00000359606:R312H	ENSP00000359606:R312H	R	-	2	0	ZNHIT6	85940512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.660000	0.54496	2.666000	0.90696	0.555000	0.69702	CGT		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		16	161	0	0	0	1	0	16	161					T	86167924	C	T	86167924	3	4	79	1	0	0	0	0	1	0	0	0	18262	536	19	1	501	1	ZNHIT6	1	86167924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120294	86167924	163082697	764	11081											
COL24A1	255631	broad.mit.edu	37	chr1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaggagagagctaaatttCtctttggtattcatttttgc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	365					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)			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)		AGCTAAATTTCTCTTTGGTAT	0.398																																						ENST00000370571.2																			0				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						c.(1093-1095)gaG>gaT		collagen, type XXIV, alpha 1							160	140	146					1																	86590924		1925	4124	6049	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590924C>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.1095G>T	1.37:g.86590924C>A	ENSP00000359603:p.Glu365Asp					COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1461	-			365					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1095G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777566	0.02929	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.45	1.25	0.21368	.	0.372941	0.19618	N	0.109968	T	0.68339	0.2990	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.58912	-0.7552	10	0.13108	T	0.6	.	2.3708	0.04330	0.2633:0.4555:0.1282:0.153	.	365;365	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	365	ENSP00000359603:E365D;ENSP00000392531:E365D	ENSP00000359603:E365D	E	-	3	2	COL24A1	86363512	0.001000	0.12720	0.152000	0.22495	0.217000	0.24651	0.072000	0.14617	-0.020000	0.14032	0.563000	0.77884	GAG		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		31	330	1	0	2.61193e-14	1	2.83483e-14	31	330					A	86590924	C	A	86590924	3	1	79	1	0	0	0	0	1	0	0	0	3692	912	32	3	4281	3	COL24A1	1	86590924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423000	86590924	162659697	765	11082											
COL24A1	255631	broad.mit.edu	37	chr1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctgaaatttgtctgaGtatcttcctcagtgatcatt	8	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	343					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)			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)		ATTTGTCTGAGTATCTTCCTC	0.413																																						ENST00000370571.2																			0				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						c.(1027-1029)aCt>aTt		collagen, type XXIV, alpha 1							127	112	116					1																	86590991		1925	4137	6062	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590991G>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.1028C>T	1.37:g.86590991G>A	ENSP00000359603:p.Thr343Ile					COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1394	-			343					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1028C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413974	0.01145	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94417	-3.42;-3.42	4.84	-2.47	0.06442	.	1.259990	0.05942	N	0.637237	T	0.73644	0.3613	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.66610	-0.5880	10	0.19590	T	0.45	.	6.7819	0.23650	0.3372:0.2986:0.3642:0.0	.	343;343	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	343	ENSP00000359603:T343I;ENSP00000392531:T343I	ENSP00000359603:T343I	T	-	2	0	COL24A1	86363579	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-1.017000	0.03630	-0.139000	0.11414	0.563000	0.77884	ACT		0.413	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		92	296	0	0	0	1	0	92	296					A	86590991	G	A	86590991	3	1	79	1	0	0	0	0	1	0	0	0	3692	1029	36	2	4348	2	COL24A1	1	86590991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	86590991	162659630	766	11083											
COL24A1	255631	broad.mit.edu	37	chr1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctgcagtagtctgCagatgcttctgcagaaggaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	232					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)			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)		CAGTAGTCTGCAGATGCTTCT	0.363																																						ENST00000370571.2																			0				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						c.(694-696)Gca>Aca		collagen, type XXIV, alpha 1							60	59	59					1																	86591325		1961	4155	6116	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591325C>T	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.694G>A	1.37:g.86591325C>T	ENSP00000359603:p.Ala232Thr					COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1060	-			232					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.694G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963121	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02177	4.41;4.41	5.82	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);	0.451445	0.16444	N	0.214147	T	0.00695	0.0023	L	0.39147	1.195	0.36043	D	0.840222	P;B	0.43287	0.802;0.068	B;B	0.36959	0.237;0.022	T	0.64516	-0.6389	10	0.27785	T	0.31	.	4.8693	0.13624	0.4501:0.3586:0.1216:0.0697	.	232;232	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	232	ENSP00000359603:A232T;ENSP00000392531:A232T	ENSP00000359603:A232T	A	-	1	0	COL24A1	86363913	0.995000	0.38212	0.984000	0.44739	0.694000	0.40290	0.403000	0.20982	-0.042000	0.13535	0.655000	0.94253	GCA		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		63	211	0	0	0	1	0	63	211					T	86591325	C	T	86591325	3	4	79	1	0	0	0	0	1	0	0	0	3692	710	25	2	4682	2	COL24A1	1	86591325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334	86591325	162659296	767	11084											
CLCA2	9635	broad.mit.edu	37	chr1	86905863	86905863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatggaaaagcttatggCtctgtgatgatattagtgac	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86905863C>T	ENST00000370565.4	+	8	1398	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	412	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCTTATGGCTCTGTGATGA	0.408																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1234-1236)ggC>ggT		chloride channel accessory 2							161	160	160					1																	86905863		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86905863C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1236C>T	1.37:g.86905863C>T							p.G412G	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	8	1398	+		Lung NSC(277;0.238)	412			VWFA.		A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.1236C>T	CCDS708.1																																																																																				0.408	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		17	671	0	0	0	1	0	17	671					T	86905863	C	T	86905863	2	4	79	1	0	0	0	0	0	0	0	1	3467	784	28	2		2	CLCA2	1	86905863	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314538	86905863	162344758	768	11085											
CLCA2	9635	broad.mit.edu	37	chr1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggccagtggtcctcCtgagattatattatttgatc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	536					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGTGGTCCTCCTGAGATTATA	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1606-1608)cCt>cAt		chloride channel accessory 2							139	130	133					1																	86909588		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86909588C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1607C>A	1.37:g.86909588C>A	ENSP00000359596:p.Pro536His						p.P536H	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	10	1769	+		Lung NSC(277;0.238)	536					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1607C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922572	0.52653	.	.	ENSG00000137975	ENST00000370565	T	0.61742	0.08	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.060811	0.64402	D	0.000003	T	0.71492	0.3346	M	0.86805	2.84	0.42859	D	0.994109	D	0.89917	1.0	D	0.77557	0.99	T	0.73924	-0.3829	10	0.29301	T	0.29	-10.2944	15.6306	0.76906	0.1386:0.8614:0.0:0.0	.	536	Q9UQC9	CLCA2_HUMAN	H	536	ENSP00000359596:P536H	ENSP00000359596:P536H	P	+	2	0	CLCA2	86682176	1.000000	0.71417	0.961000	0.40146	0.265000	0.26407	3.317000	0.51968	1.382000	0.46385	0.650000	0.86243	CCT		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		126	397	1	0	8.72215e-35	1	1.03874e-34	126	397					A	86909588	C	A	86909588	3	1	79	1	0	0	0	0	1	0	0	0	3467	681	24	3	1645	3	CLCA2	1	86909588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3725	86909588	162341033	769	11086											
CLCA1	1179	broad.mit.edu	37	chr1	86934771	86934771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggcattgtcgttgcaatCgaccccaatgtgccagaaga	11	10	0	2	rs550010719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	39					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGTTGCAATCGACCCCAATG	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19089	0.0		0.0	False		,,,				2504	0.0					ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(115-117)atC>atT		chloride channel accessory 1							123	116	118					1																	86934771		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86934771C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.117C>T	1.37:g.86934771C>T						CLCA1_ENST00000394711.1_Silent_p.I39I	p.I39I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	468	+		Lung NSC(277;0.239)	39					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.117C>T	CCDS709.1																																																																																				0.373	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		66	229	0	0	0	1	0	66	229					T	86934771	C	T	86934771	2	4	79	1	0	0	0	0	0	0	0	1	3466	874	31	1		1	CLCA1	1	86934771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25183	86934771	162315850	770	11087											
CLCA1	1179	broad.mit.edu	37	chr1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaggatgtgagtttgttCtccaatcccgccagacggag	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	227					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGAGTTTGTTCTCCAATCCCG	0.413																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(679-681)Ctc>Atc		chloride channel accessory 1							136	129	132					1																	86948009		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86948009C>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.679C>A	1.37:g.86948009C>A	ENSP00000234701:p.Leu227Ile					CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I	p.L227I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	6	1030	+		Lung NSC(277;0.239)	227					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.679C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728078	0.48833	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11604	2.76;2.76	5.49	5.49	0.81192	Chloride channel calcium-activated (1);	0.129596	0.52532	D	0.000080	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.21827	-1.0234	10	0.54805	T	0.06	-5.6807	18.5051	0.90894	0.0:1.0:0.0:0.0	.	227	A8K7I4	CLCA1_HUMAN	I	227	ENSP00000234701:L227I;ENSP00000378200:L227I	ENSP00000234701:L227I	L	+	1	0	CLCA1	86720597	0.483000	0.25956	0.022000	0.16811	0.002000	0.02628	4.384000	0.59607	2.746000	0.94184	0.655000	0.94253	CTC		0.413	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		40	251	1	0	4.67007e-22	1	5.27622e-22	40	251					A	86948009	C	A	86948009	3	1	79	1	0	0	0	0	1	0	0	0	3466	913	32	3	697	3	CLCA1	1	86948009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13238	86948009	162302612	771	11088											
CLCA4	22802	broad.mit.edu	37	chr1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgactacagcttctaCgtacctgtttgaagccacag	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343																																						ENST00000370563.3																			1	Substitution - Missense(1)	p.T61M(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(181-183)aCg>aTg		chloride channel accessory 4							138	124	128					1																	87025637		1820	4083	5903	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87025637C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.182C>T	1.37:g.87025637C>T	ENSP00000359594:p.Thr61Met					CLCA4_ENST00000263723.5_5'UTR	p.T61M	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	2	224	+		Lung NSC(277;0.238)	61					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.182C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		64	543	0	0	0	1	0	64	543					T	87025637	C	T	87025637	3	4	79	1	0	0	0	0	1	0	0	0	3468	536	19	1	188	1	CLCA4	1	87025637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77628	87025637	162224984	772	11089											
CLCA4	22802	broad.mit.edu	37	chr1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagctaatccaaataaaaaGcagtgatgaaagaaacacac	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	364	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATAAAAAGCAGTGATGAA	0.398																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1090-1092)aGc>aTc		chloride channel accessory 4							96	97	97					1																	87033243		1909	4135	6044	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87033243G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1091G>T	1.37:g.87033243G>T	ENSP00000359594:p.Ser364Ile					CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	p.S364I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	7	1133	+		Lung NSC(277;0.238)	364			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1091G>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741101	0.49151	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.70045	-0.45;-0.45	5.98	2.75	0.32379	von Willebrand factor, type A (3);	0.414937	0.29508	N	0.011949	T	0.70254	0.3203	M	0.87758	2.905	0.09310	N	1	D	0.53885	0.963	D	0.65573	0.936	T	0.63332	-0.6661	10	0.87932	D	0	-7.571	4.875	0.13651	0.161:0.1236:0.6015:0.1139	.	364	Q14CN2	CLCA4_HUMAN	I	364;77	ENSP00000359594:S364I;ENSP00000263723:S77I	ENSP00000263723:S77I	S	+	2	0	CLCA4	86805831	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	1.142000	0.31540	0.785000	0.33685	-0.345000	0.07892	AGC		0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		25	249	1	0	1.39806e-14	1	1.52044e-14	25	249					T	87033243	G	T	87033243	3	4	79	1	0	0	0	0	1	0	0	0	3468	971	34	3	1117	3	CLCA4	1	87033243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7606	87033243	162217378	773	11090											
SH3GLB1	51100	broad.mit.edu	37	chr1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatagaaaagctccaagtCgtataaacaacccagaactt	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000535010.1_5'UTR|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	90	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCTCCAAGTCGTATAAACAA	0.358																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(268-270)Cgt>Tgt		SH3-domain GRB2-like endophilin B1							74	77	76					1																	87185243		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87185243C>T	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.268C>T	1.37:g.87185243C>T	ENSP00000473267:p.Arg90Cys					SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	p.R90C	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	3	592	+		Lung NSC(277;0.209)	90			BAR.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.268C>T	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165477	0.94768	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.32272	1.46	5.95	5.95	0.96441	BAR (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67968	-0.5533	10	0.87932	D	0	-0.4584	20.3748	0.98911	0.0:1.0:0.0:0.0	.	90;90	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	C	90	ENSP00000418744:R90C	ENSP00000212369:R90C	R	+	1	0	SH3GLB1	86957831	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		17	294	0	0	0	1	0	17	294					T	87185243	C	T	87185243	3	4	79	1	0	0	0	0	1	0	0	0	14303	884	31	1	278	1	SH3GLB1	1	87185243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152000	87185243	162065378	774	11091											
SEP15	9403	broad.mit.edu	37	chr1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtccaaaagctttaatAcagggtctgaaccacggaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000469566.1_5'UTR	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		127					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403																																						ENST00000331835.5																			0											c.(379-381)gTa>gGa									101	91	94					1																	87329266		1882	4104	5986	SO:0001583	missense	0							g.chr1:87329266A>C																												ENST00000331835.5:c.380T>G	1.37:g.87329266A>C	ENSP00000328729:p.Val127Gly					RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_Missense_Mutation_p.Y141D|RP4-604K5.1_ENST00000370554.1_Missense_Mutation_p.C110W	p.V127G	NM_004261.3	NP_004252.2					5	642	-								Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Missense_Mutation	SNP	ENST00000331835.5	37	c.380T>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.27|18.27|18.27	3.585955|3.585955|3.585955	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000183291|ENSG00000183291|ENSG00000183291	ENST00000370554|ENST00000331835|ENST00000401030	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|Thioredoxin-like fold (1);|.	.|0.272182|.	.|0.30809|.	.|N|.	.|0.008825|.	T|T|T	0.54431|0.54431|0.54431	0.1858|0.1858|0.1858	.|.|.	.|.|.	.|.|.	0.30850|0.30850|0.30850	N|N|N	0.734679|0.734679|0.734679	D|P|.	0.53885|0.49783|.	0.963|0.928|.	B|P|.	0.43950|0.51918|.	0.437|0.684|.	T|T|T	0.59306|0.59306|0.59306	-0.7479|-0.7479|-0.7479	7|8|5	0.87932|0.52906|0.87932	D|T|D	0|0.07|0	-23.4263|-23.4263|-23.4263	16.2107|16.2107|16.2107	0.82151|0.82151|0.82151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	110|127|.	O60613-2|O60613|.	.|SEP15_HUMAN|.	W|G|D	110|127|141	.|.|.	ENSP00000359585:C110W|ENSP00000328729:V127G|ENSP00000383810:Y141D	C|V|Y	-|-|-	3|2|1	2|0|0	RP4-604K5.1|RP4-604K5.1|RP4-604K5.1	87101854|87101854|87101854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.933000|0.933000|0.933000	0.37362|0.37362|0.37362	0.506000|0.506000|0.506000	0.33950|0.33950|0.33950	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.293000|2.293000|2.293000	0.77203|0.77203|0.77203	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	TGT|GTA|TAT		0.403	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			16	142	0	0	0	1	0	16	142					C	87329266	A	C	87329266	3	2	79	1	0	0	0	0	1	0	0	0	14103	392	14	4	112	4	SEP15	1	87329266	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144023	87329266	161921355	775	11092											
HS2ST1	9653	broad.mit.edu	37	chr1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcatggacacgtttcttaCttggattttgcaaagtaagt	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	145					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(433-435)taC>taA		heparan sulfate 2-O-sulfotransferase 1							100	102	101					1																	87549948		2203	4299	6502	SO:0001587	stop_gained	9653					Golgi membrane|integral to membrane		g.chr1:87549948C>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.435C>A	1.37:g.87549948C>A	ENSP00000359581:p.Tyr145*					HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*	p.Y145*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	3	798	+		Lung NSC(277;0.153)	145					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Nonsense_Mutation	SNP	ENST00000370550.5	37	c.435C>A	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658635	0.97739	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.81	-0.175	0.13315	.	0.114120	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.0488	12.1377	0.53981	0.0:0.5105:0.0:0.4895	.	.	.	.	X	145;145;119;119	.	ENSP00000349268:Y119X	Y	+	3	2	HS2ST1	87322536	0.825000	0.29262	0.998000	0.56505	0.998000	0.95712	-0.071000	0.11505	0.051000	0.15978	0.637000	0.83480	TAC		0.313	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		63	220	1	0	6.88731e-43	1	8.39682e-43	63	220					A	87549948	C	A	87549948	4	1	79	1	0	0	0	0	0	1	0	0	7392	576	20	3	445	3	HS2ST1	1	87549948	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220682	87549948	161700673	776	11093											
GBP1	2633	broad.mit.edu	37	chr1	89520419	89520419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaactggaccctgtcGttctccatcttctcagtcag	7	14	5	0	rs369920657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	537					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACCCTGTCGTTCTCCATCT	0.423																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(1609-1611)aaC>aaT		guanylate binding protein 1, interferon-inducible		G		0,4406		0,0,2203	304	305	304		1611	-2.8	0	1		304	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GBP1	NM_002053.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		537/593	89520419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89520419G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1611C>T	1.37:g.89520419G>A						GBP1_ENST00000484970.1_5'UTR	p.N537N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	10	1830	-		Lung NSC(277;0.123)	537					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.1611C>T	CCDS718.1																																																																																				0.423	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		83	1453	0	0	0	1	0	83	1453					A	89520419	G	A	89520419	2	1	79	1	0	0	0	0	0	0	0	1	6301	1136	40	1		1	GBP1	1	89520419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1970471	89520419	159730202	777	11094											
GBP1	2633	broad.mit.edu	37	chr1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaggagtcattctggttgtCaccctggaagtcaagacaca	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	108	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(322-324)Gac>Aac		guanylate binding protein 1, interferon-inducible							135	120	125					1																	89525106		2203	4298	6501	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525106C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.322G>A	1.37:g.89525106C>T	ENSP00000359504:p.Asp108Asn						p.D108N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	4	541	-		Lung NSC(277;0.123)	108					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.322G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680954	0.47886	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.75938	-0.98	4.6	1.65	0.23941	Guanylate-binding protein, N-terminal (1);	0.225904	0.42682	N	0.000670	T	0.49712	0.1573	L	0.52905	1.665	0.24793	N	0.992749	B	0.28713	0.22	B	0.32805	0.153	T	0.47446	-0.9117	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7053:0.0:0.2947	.	108	P32455	GBP1_HUMAN	N	108;71	ENSP00000359504:D108N	ENSP00000359504:D108N	D	-	1	0	GBP1	89297694	0.987000	0.35691	0.996000	0.52242	0.820000	0.46376	1.855000	0.39378	0.382000	0.24878	0.306000	0.20318	GAC		0.483	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		44	409	0	0	0	1	0	44	409					T	89525106	C	T	89525106	3	4	79	1	0	0	0	0	1	0	0	0	6301	826	29	2	1488	2	GBP1	1	89525106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4687	89525106	159725515	778	11095											
GBP2	2634	broad.mit.edu	37	chr1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttctcaccttcaatcGctttttccttttctgagagt	6	11	3	1	rs201969713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	486					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19238	0.001		0.0	False		,,,				2504	0.0					ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1456-1458)gCg>gTg		guanylate binding protein 2, interferon-inducible							197	177	184					1																	89575855		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89575855G>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1457C>T	1.37:g.89575855G>A	ENSP00000359497:p.Ala486Val						p.A486V	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	9	1725	-		Lung NSC(277;0.0908)	486					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1457C>T	CCDS719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.932109	0.52866	.	.	ENSG00000162645	ENST00000370466	T	0.02216	4.39	3.85	2.72	0.32119	Guanylate-binding protein, C-terminal (3);	4.217600	0.02050	U	0.049988	T	0.01627	0.0052	M	0.65677	2.01	0.22858	N	0.998644	B	0.27351	0.176	B	0.29942	0.109	T	0.46884	-0.9159	10	0.54805	T	0.06	-6.9689	8.6466	0.34009	0.0:0.0:0.2062:0.7938	.	486	P32456	GBP2_HUMAN	V	486	ENSP00000359497:A486V	ENSP00000359497:A486V	A	-	2	0	GBP2	89348443	0.002000	0.14202	0.423000	0.26634	0.601000	0.36947	0.741000	0.26202	0.634000	0.30469	-0.271000	0.10264	GCG		0.413	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		50	431	0	0	0	1	0	50	431					A	89575855	G	A	89575855	3	1	79	1	0	0	0	0	1	0	0	0	6302	1087	38	1	330	1	GBP2	1	89575855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50749	89575855	159674766	779	11096											
GBP2	2634	broad.mit.edu	37	chr1	89587545	89587545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaccaccacaggctgCgtaattgcagataggatctt	9	13	1	1	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	35	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(103-105)acG>acA		guanylate binding protein 2, interferon-inducible		C		6,4400	11.4+/-27.6	0,6,2197	158	145	150		105	-6.9	0	1	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		35/592	89587545	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587545C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.105G>A	1.37:g.89587545C>T							p.T35T	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	373	-		Lung NSC(277;0.0908)	35					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.105G>A	CCDS719.1																																																																																				0.527	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		133	451	0	0	0	1	0	133	451					T	89587545	C	T	89587545	2	4	79	1	0	0	0	0	0	0	0	1	6302	755	27	1		1	GBP2	1	89587545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11690	89587545	159663076	780	11097											
GBP4	115361	broad.mit.edu	37	chr1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcctctacaaccacctgtGactgcaggaagttctggagg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACCACCTGTGACTGCAGGAA	0.517																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1441-1443)tCa>tTa		guanylate binding protein 4							137	117	124					1																	89652754		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652754G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1442C>T	1.37:g.89652754G>A	ENSP00000359490:p.Ser481Leu						p.S481L	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	9	1539	-			481					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1442C>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410312	0.42715	.	.	ENSG00000162654	ENST00000355754	T	0.02606	4.23	4.3	1.27	0.21489	Guanylate-binding protein, C-terminal (3);	0.733487	0.12731	N	0.443803	T	0.03305	0.0096	M	0.92317	3.295	0.09310	N	1	P	0.37573	0.6	B	0.42653	0.394	T	0.21655	-1.0239	10	0.48119	T	0.1	.	5.8011	0.18414	0.0935:0.0:0.4101:0.4964	.	481	Q96PP9	GBP4_HUMAN	L	481	ENSP00000359490:S481L	ENSP00000359490:S481L	S	-	2	0	GBP4	89425342	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.528000	0.23002	0.156000	0.19299	-1.130000	0.01982	TCA		0.517	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		40	313	0	0	0	1	0	40	313					A	89652754	G	A	89652754	3	1	79	1	0	0	0	0	1	0	0	0	6304	1294	45	2	492	2	GBP4	1	89652754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65209	89652754	159597867	781	11098											
GBP4	115361	broad.mit.edu	37	chr1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggctgccctctgcacaGccgctgggttctcaagctgg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	341						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTCTGCACAGCCGCTGGGTT	0.592																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1021-1023)gCt>gTt		guanylate binding protein 4							65	62	63					1																	89655896		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655896G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1022C>T	1.37:g.89655896G>A	ENSP00000359490:p.Ala341Val						p.A341V	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1119	-			341					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1022C>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492929	0.84962	.	.	ENSG00000162654	ENST00000355754	T	0.09817	2.94	5.07	5.07	0.68467	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.90977	3.165	0.38393	D	0.945461	D	0.89917	1.0	D	0.72075	0.976	T	0.39187	-0.9626	10	0.87932	D	0	.	16.3386	0.83074	0.0:0.0:1.0:0.0	.	341	Q96PP9	GBP4_HUMAN	V	341	ENSP00000359490:A341V	ENSP00000359490:A341V	A	-	2	0	GBP4	89428484	0.999000	0.42202	0.181000	0.23098	0.005000	0.04900	4.089000	0.57685	2.797000	0.96272	0.655000	0.94253	GCT		0.592	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		75	285	0	0	0	1	0	75	285					A	89655896	G	A	89655896	3	1	79	1	0	0	0	0	1	0	0	0	6304	971	34	2	920	2	GBP4	1	89655896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3142	89655896	159594725	782	11099											
GBP4	115361	broad.mit.edu	37	chr1	89657065	89657065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttcttctggcacttcGtccatatgatttaaatattg	6	7	2	2	rs539360281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	265	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGCACTTCGTCCATATGAT	0.418																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(793-795)gaC>gaT		guanylate binding protein 4							114	113	114					1																	89657065		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89657065G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.795C>T	1.37:g.89657065G>A							p.D265D	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	892	-			265					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.795C>T	CCDS721.1																																																																																				0.418	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		69	312	0	0	0	1	0	69	312					A	89657065	G	A	89657065	2	1	79	1	0	0	0	0	0	0	0	1	6304	1136	40	1		1	GBP4	1	89657065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1169	89657065	159593556	783	11100											
GBP5	115362	broad.mit.edu	37	chr1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttctgttgctctgccaGccaattttgtttggctatct	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000370459.3	-	10	1736	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	GBP5_ENST00000343435.5_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	537	Required for tetramerization. {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1609-1611)Ctg>Atg		guanylate binding protein 5							246	210	222					1																	89727941		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89727941G>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.1609C>A	1.37:g.89727941G>T	ENSP00000359488:p.Leu537Met					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.L537M	p.L537M	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	11	2145	-			537					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1609C>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794136	0.31777	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.57595	0.39;0.39	4.86	-6.53	0.01866	Guanylate-binding protein, C-terminal (3);	2.711920	0.01238	N	0.008520	T	0.20536	0.0494	L	0.41124	1.26	0.09310	N	1	P	0.44478	0.836	P	0.45577	0.486	T	0.31280	-0.9949	10	0.35671	T	0.21	2.8724	0.2147	0.00160	0.3135:0.2222:0.2393:0.2251	.	537	Q96PP8	GBP5_HUMAN	M	537	ENSP00000340396:L537M;ENSP00000359488:L537M	ENSP00000340396:L537M	L	-	1	2	GBP5	89500529	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.974000	0.03794	-1.049000	0.03234	-0.196000	0.12772	CTG		0.468	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		115	518	1	0	6.83383e-50	1	8.46023e-50	115	518					T	89727941	G	T	89727941	3	4	79	1	0	0	0	0	1	0	0	0	6305	962	34	3	159	3	GBP5	1	89727941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70876	89727941	159522680	784	11101											
LRRC8B	23507	broad.mit.edu	37	chr1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcatagaaagcccaacttCcagtgtcctggacaagaagg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	223					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(667-669)tCc>tTc		leucine rich repeat containing 8 family, member B							59	62	61					1																	90048877		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048877C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.668C>T	1.37:g.90048877C>T	ENSP00000332674:p.Ser223Phe					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1028	+		all_lung(203;0.17)	223					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.668C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724491	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.44542	1.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.56278	0.795	T	0.03597	-1.1021	9	.	.	.	.	19.0782	0.93171	0.0:1.0:0.0:0.0	.	223	Q6P9F7	LRC8B_HUMAN	F	223	ENSP00000332674:S223F;ENSP00000350933:S223F;ENSP00000400704:S223F	.	S	+	2	0	LRRC8B	89821465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.729000	0.68538	2.572000	0.86782	0.655000	0.94253	TCC		0.488	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		68	209	0	0	0	1	0	68	209					T	90048877	C	T	90048877	3	4	79	1	0	0	0	0	1	0	0	0	9060	855	30	2	670	2	LRRC8B	1	90048877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	320936	90048877	159201744	785	11102											
LRRC8C	84230	broad.mit.edu	37	chr1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtctttaaagtccattcCtgagaagtttgtagttgata	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	217					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTCCATTCCTGAGAAGTTT	0.453																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(649-651)cCt>cAt		leucine rich repeat containing 8 family, member C							56	61	59					1																	90178779		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178779C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.650C>A	1.37:g.90178779C>A	ENSP00000359483:p.Pro217His					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.P217H	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	905	+		all_lung(203;0.126)	217					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.650C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234785	0.58886	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.01256	-1.1404	10	0.46703	T	0.11	.	20.3501	0.98811	0.0:1.0:0.0:0.0	.	217	Q8TDW0	LRC8C_HUMAN	H	217	ENSP00000359483:P217H	ENSP00000359483:P217H	P	+	2	0	LRRC8C	89951367	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.086000	0.71352	2.807000	0.96579	0.650000	0.86243	CCT		0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		35	273	1	0	1.836e-18	1	2.03801e-18	35	273					A	90178779	C	A	90178779	3	1	79	1	0	0	0	0	1	0	0	0	9061	681	24	3	656	3	LRRC8C	1	90178779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129902	90178779	159071842	786	11103											
LRRC8C	84230	broad.mit.edu	37	chr1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcctttataccttataCtggctgttctaccgttctct	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	339					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATACCTTATACTGGCTGTTCT	0.388																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1015-1017)taC>taA		leucine rich repeat containing 8 family, member C							85	71	76					1																	90179146		2203	4300	6503	SO:0001587	stop_gained	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179146C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1017C>A	1.37:g.90179146C>A	ENSP00000359483:p.Tyr339*					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.Y339*	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1272	+		all_lung(203;0.126)	339					B3KXS9|Q29RV6|Q9H075	Nonsense_Mutation	SNP	ENST00000370454.4	37	c.1017C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504666	0.96371	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.86	1.92	0.25849	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1756	0.37109	0.0:0.6042:0.0:0.3958	.	.	.	.	X	339	.	ENSP00000359483:Y339X	Y	+	3	2	LRRC8C	89951734	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	0.821000	0.34540	0.650000	0.86243	TAC		0.388	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		29	313	1	0	1.17739e-12	1	1.26592e-12	29	313					A	90179146	C	A	90179146	4	1	79	1	0	0	0	0	0	1	0	0	9061	576	20	3	1023	3	LRRC8C	1	90179146	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	90179146	159071475	787	11104											
LRRC8D	55144	broad.mit.edu	37	chr1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccaagaccaagatgggCggacaacaaacgacatttcc	8	13	0	2	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	93					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAAGATGGGCGGACAACAAA	0.493																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(277-279)Cgg>Tgg		leucine rich repeat containing 8 family, member D		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	105	91	96		277,277	-1.3	0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC8D	NM_001134479.1,NM_018103.4	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	93/859,93/859	90398904	1,13005	2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90398904C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.277C>T	1.37:g.90398904C>T	ENSP00000338887:p.Arg93Trp					LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	684	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	93					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.277C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351627	0.11182	0.0	1.16E-4	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.44482	1.49;1.49;0.92	6.07	-1.26	0.09376	.	0.859492	0.09801	N	0.754096	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	9	.	.	.	.	0.5437	0.00650	0.2241:0.3021:0.2206:0.2531	.	93	Q7L1W4	LRC8D_HUMAN	W	93	ENSP00000338887:R93W;ENSP00000378093:R93W;ENSP00000405784:R93W	.	R	+	1	2	LRRC8D	90171492	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	0.014000	0.13333	0.138000	0.18790	-0.136000	0.14681	CGG		0.493	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		34	166	0	0	0	1	0	34	166					T	90398904	C	T	90398904	3	4	79	1	0	0	0	0	1	0	0	0	9062	759	27	1	279	1	LRRC8D	1	90398904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219758	90398904	158851717	788	11105											
LRRC8D	55144	broad.mit.edu	37	chr1	90399281	90399281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttgtctgagacagcatgCgaagactcagaggaaaacaa	12	8	2	3	rs532560893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	218					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGACAGCATGCGAAGACTCAG	0.443																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(652-654)tgC>tgT		leucine rich repeat containing 8 family, member D							60	60	60					1																	90399281		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90399281C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.654C>T	1.37:g.90399281C>T						LRRC8D_ENST00000394593.3_Silent_p.C218C	p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1061	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	218					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.654C>T	CCDS726.1																																																																																				0.443	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		59	235	0	0	0	1	0	59	235					T	90399281	C	T	90399281	2	4	79	1	0	0	0	0	0	0	0	1	9062	776	27	1		1	LRRC8D	1	90399281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	90399281	158851340	789	11106											
LRRC8D	55144	broad.mit.edu	37	chr1	90399638	90399638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcaatcagctttgaacaCgtctgcaagcccaaagttga	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	337					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTTTGAACACGTCTGCAAGC	0.383																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1009-1011)caC>caT		leucine rich repeat containing 8 family, member D							93	93	93					1																	90399638		2203	4299	6502	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90399638C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1011C>T	1.37:g.90399638C>T						LRRC8D_ENST00000394593.3_Silent_p.H337H	p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1418	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	337					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1011C>T	CCDS726.1																																																																																				0.383	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		95	467	0	0	0	1	0	95	467					T	90399638	C	T	90399638	2	4	79	1	0	0	0	0	0	0	0	1	9062	535	19	1		1	LRRC8D	1	90399638	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357	90399638	158850983	790	11107											
LRRC8D	55144	broad.mit.edu	37	chr1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttccagcatttaaaaCgactgacttgtttaaaatta	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	684					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R684*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343																																						ENST00000337338.5																			1	Substitution - Nonsense(1)	p.R684*(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(2050-2052)Cga>Tga		leucine rich repeat containing 8 family, member D							63	67	66					1																	90400677		2203	4299	6502	SO:0001587	stop_gained	55144					integral to membrane	protein binding	g.chr1:90400677C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2050C>T	1.37:g.90400677C>T	ENSP00000338887:p.Arg684*					LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2457	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	684					D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	37	c.2050C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678981	0.98428	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4984	0.61438	0.4943:0.5057:0.0:0.0	.	.	.	.	X	684	.	.	R	+	1	2	LRRC8D	90173265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	0.784000	0.33661	0.655000	0.94253	CGA		0.343	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		27	328	0	0	0	1	0	27	328					T	90400677	C	T	90400677	4	4	79	1	0	0	0	0	0	1	0	0	9062	528	19	1	2052	1	LRRC8D	1	90400677	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1039	90400677	158849944	791	11108											
ZNF326	284695	broad.mit.edu	37	chr1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggccatggatcctatgGgggtcagagatccatggatt	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000340281.4	+	4	274	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000370447.3_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	44	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGATCCTATGGGGGTCAGAGA	0.423																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(130-132)gGg>gAg		zinc finger protein 326							119	121	120					1																	90470725		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90470725G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.131G>A	1.37:g.90470725G>A	ENSP00000340796:p.Gly44Glu					ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000370447.2_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron	p.G44E	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	4	274	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	44			Gly-rich.|Mediates transcriptional activation (By similarity).		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.131G>A	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250062	0.80024	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65732	0.64;-0.17	5.38	5.38	0.77491	.	0.295538	0.31323	N	0.007841	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70766	-0.4783	10	0.72032	D	0.01	-8.5984	17.2903	0.87154	0.0:0.0:1.0:0.0	.	44;44	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	E	44	ENSP00000340796:G44E;ENSP00000359476:G44E	ENSP00000340796:G44E	G	+	2	0	ZNF326	90243313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.385000	0.73182	2.502000	0.84385	0.453000	0.30009	GGG		0.423	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		73	378	0	0	0	1	0	73	378					A	90470725	G	A	90470725	3	1	79	1	0	0	0	0	1	0	0	0	17899	1232	43	2	145	2	ZNF326	1	90470725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70048	90470725	158779896	792	11109											
BARHL2	343472	broad.mit.edu	37	chr1	91182141	91182141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaccgtggcatttgatGtcgctctgggaatcctcccg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCATTTGATGTCGCTCTGGG	0.602																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(610-612)gaC>gaT		BarH-like homeobox 2							79	68	72					1																	91182141		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182141G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.612C>T	1.37:g.91182141G>A							p.D204D	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	653	-		all_lung(203;0.0263)|Lung SC(238;0.128)	204					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.612C>T	CCDS730.1																																																																																				0.602	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			15	248	0	0	0	1	0	15	248					A	91182141	G	A	91182141	2	1	79	1	0	0	0	0	0	0	0	1	1315	1368	48	2		2	BARHL2	1	91182141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711416	91182141	158068480	793	11110											
ZNF644	84146	broad.mit.edu	37	chr1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttcttttttaaggtaTttgaaagaaaagtgctagta	7	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTAAGGTATTTGAAAGAAA	0.388																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1153-1155)aAt>aGt		zinc finger protein 644							101	102	101					1																	91405757		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405757T>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1154A>G	1.37:g.91405757T>C	ENSP00000359469:p.Asn385Ser					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S	p.N385S			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1371	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	385					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1154A>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065165	0.20067	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00585	6.39;6.39	5.58	4.45	0.53987	.	0.334787	0.35936	N	0.002883	T	0.00271	0.0008	L	0.32530	0.975	0.43652	D	0.996066	B	0.10296	0.003	B	0.08055	0.003	T	0.59521	-0.7439	10	0.33141	T	0.24	-6.1922	11.4023	0.49876	0.0:0.0706:0.0:0.9294	.	385	Q9H582	ZN644_HUMAN	S	385	ENSP00000359469:N385S;ENSP00000337008:N385S	ENSP00000337008:N385S	N	-	2	0	ZNF644	91178345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.106000	0.41835	0.958000	0.37956	0.533000	0.62120	AAT		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		129	432	0	0	0	1	0	129	432					C	91405757	T	C	91405757	3	2	79	1	0	0	0	0	1	0	0	0	18113	1493	52	4	2845	4	ZNF644	1	91405757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223616	91405757	157844864	794	11111											
ZNF644	84146	broad.mit.edu	37	chr1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcttgcatttttgatTtattgggtacacaattagaa	6	6	1	2	rs145118167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTTTGATTTATTGGGTAC	0.328																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(949-951)aAa>aCa		zinc finger protein 644							85	86	86					1																	91405961		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405961T>G	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.950A>C	1.37:g.91405961T>G	ENSP00000359469:p.Lys317Thr					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T	p.K317T			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1167	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	317					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.950A>C	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673492	0.47781	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00609	6.24;6.24	5.58	5.58	0.84498	.	0.111999	0.64402	D	0.000005	T	0.00328	0.0010	L	0.32530	0.975	0.48696	D	0.999694	B	0.29212	0.237	B	0.22880	0.042	T	0.72151	-0.4377	10	0.48119	T	0.1	-16.216	15.756	0.78025	0.0:0.0:0.0:1.0	.	317	Q9H582	ZN644_HUMAN	T	317	ENSP00000359469:K317T;ENSP00000337008:K317T	ENSP00000337008:K317T	K	-	2	0	ZNF644	91178549	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.699000	0.68310	2.131000	0.65755	0.533000	0.62120	AAA		0.328	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		69	248	0	0	0	1	0	69	248					G	91405961	T	G	91405961	3	3	79	1	0	0	0	0	1	0	0	0	18113	1841	64	4	3049	4	ZNF644	1	91405961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	204	91405961	157844660	795	11112											
ZNF644	84146	broad.mit.edu	37	chr1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcaaagttgaacaagattCtgttgttggctgatccacag	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACAAGATTCTGTTGTTGGC	0.403																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(448-450)Gaa>Taa		zinc finger protein 644							79	78	78					1																	91406463		2203	4299	6502	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406463C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.448G>T	1.37:g.91406463C>A	ENSP00000359469:p.Glu150*					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*	p.E150*			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	665	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	150					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.448G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528257	0.64860	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	.	.	.	5.77	5.77	0.91146	.	0.066947	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1133	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000337008:E150X	E	-	1	0	ZNF644	91179051	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.677000	0.68142	2.715000	0.92844	0.655000	0.94253	GAA		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		104	378	1	0	2.07245e-51	1	2.57162e-51	104	378					A	91406463	C	A	91406463	4	1	79	1	0	0	0	0	0	1	0	0	18113	922	32	3	3551	3	ZNF644	1	91406463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502	91406463	157844158	796	11113											
HFM1	164045	broad.mit.edu	37	chr1	91727847	91727848	+	Frame_Shift_Ins	INS	-	-	T													tttctaataaaaaaatccacINSttttttataatttgaagaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91727847_91727848insT	ENST00000370425.3	-	38	4286_4287	c.4188_4189insA	c.(4186-4191)aaagtgfs	p.V1397fs	HFM1_ENST00000370424.3_Frame_Shift_Ins_p.V1076fs|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_3'UTR|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1397					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAAAATCCACTTTTTTATAAT	0.272																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(4186-4191)aatggafs		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91727847_91727848insT	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4189dupA	1.37:g.91727853_91727853dupT	ENSP00000359454:p.Val1397fs					HFM1_ENST00000370424.3_Frame_Shift_Ins_p.NG1075fs|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR	p.NG1396fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	38	4286_4287	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1396					B1B0B6|Q8N9Q0	Frame_Shift_Ins	INS	ENST00000370425.3	37	c.4188_4189insA	CCDS30769.2																																																																																				0.272	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		19	183						19	183	---	---	---	---	T	91727848	-	T	91727847	7	5	79	1	0	1	1	0	0	0	0	0	7113	565	20	0	126	0	HFM1	1	91727847	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	321384	91727847	157522774	797	11114											
HFM1	164045	broad.mit.edu	37	chr1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgccgtcgtatcactatatCttgtaatctttaaaaaagga	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	997	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACTATATCTTGTAATCTT	0.303																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2989-2991)aGa>aTa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							38	39	39					1																	91781522		2199	4297	6496	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781522C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2990G>T	1.37:g.91781522C>A	ENSP00000359454:p.Arg997Ile					HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000462405.1_5'UTR	p.R997I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3088	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	997			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2990G>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.848|8.848	0.943933|0.943933	0.18281|0.18281	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.57273	.|0.41;0.41;0.41	5.25|5.25	3.37|3.37	0.38596|0.38596	.|Sec63 domain (2);	.|0.267631	.|0.35096	.|N	.|0.003455	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999972|0.999972	.|P;D;D	.|0.63880	.|0.943;0.99;0.993	.|B;D;P	.|0.64595	.|0.445;0.927;0.854	T|T	0.56177|0.56177	-0.8022|-0.8022	5|10	.|0.66056	.|D	.|0.02	.|.	5.2022|5.2022	0.15271|0.15271	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	.|676;208;997	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|I	209|997;229;676;681	.|ENSP00000359454:R997I;ENSP00000294696:R229I;ENSP00000359453:R676I	.|ENSP00000294696:R229I	D|R	-|-	1|2	0|0	HFM1|HFM1	91554110|91554110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	2.689000|2.689000	0.46993|0.46993	1.226000|1.226000	0.43582|0.43582	-0.384000|-0.384000	0.06662|0.06662	GAT|AGA		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		14	59	1	0	1.05317e-09	1	1.11087e-09	14	59					A	91781522	C	A	91781522	3	1	79	1	0	0	0	0	1	0	0	0	7113	913	32	3	1365	3	HFM1	1	91781522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53675	91781522	157469099	798	11115											
HFM1	164045	broad.mit.edu	37	chr1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttaaactcagtttggtTactactgcagggaaatccaa	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000370424.3_Missense_Mutation_p.N182D|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	503					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTTTGGTTACTACTGCAG	0.408																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1507-1509)Aac>Gac		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							134	126	129					1																	91841173		1858	4095	5953	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841173T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1507A>G	1.37:g.91841173T>C	ENSP00000359454:p.Asn503Asp					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N182D	p.N503D	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1605	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	503					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1507A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822869	0.32237	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.91237	-0.53;-2.81	5.4	4.2	0.49525	.	0.000000	0.48767	U	0.000167	T	0.80752	0.4683	M	0.73962	2.25	0.80722	D	1	P;P	0.44627	0.839;0.704	B;B	0.33521	0.118;0.165	T	0.80730	-0.1252	10	0.13853	T	0.58	.	12.0484	0.53493	0.0:0.0:0.1439:0.856	.	182;503	A6NGI5;A2PYH4	.;HFM1_HUMAN	D	503;182;187;536	ENSP00000359454:N503D;ENSP00000359453:N182D	ENSP00000359450:N187D	N	-	1	0	HFM1	91613761	1.000000	0.71417	0.953000	0.39169	0.238000	0.25445	5.046000	0.64226	2.057000	0.61298	0.460000	0.39030	AAC		0.408	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		124	368	0	0	0	1	0	124	368					C	91841173	T	C	91841173	3	2	79	1	0	0	0	0	1	0	0	0	7113	1754	61	4	2912	4	HFM1	1	91841173	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59651	91841173	157409448	799	11116											
CDC7	8317	broad.mit.edu	37	chr1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccccagcgtgaccggtTtcaggctgaaggctctttaa	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	22					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CGTGACCGGTTTCAGGCTGAA	0.428																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(64-66)tTt>tCt		cell division cycle 7							119	127	124					1																	91967338		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967338T>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.65T>C	1.37:g.91967338T>C	ENSP00000393139:p.Phe22Ser					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S	p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	324	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	22					D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.65T>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682364	0.14907	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.49432	0.78;1.01;1.01;2.02	5.42	1.72	0.24424	.	1.624430	0.02734	N	0.115407	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10405	-1.0631	10	0.22109	T	0.4	-3.2262	2.6492	0.04994	0.1226:0.1499:0.1202:0.6073	.	22;22	B7Z5H7;O00311	.;CDC7_HUMAN	S	22	ENSP00000407477:F22S;ENSP00000234626:F22S;ENSP00000393139:F22S;ENSP00000398077:F22S	ENSP00000234626:F22S	F	+	2	0	CDC7	91739926	0.001000	0.12720	0.151000	0.22473	0.612000	0.37316	0.256000	0.18351	-0.131000	0.11578	-1.431000	0.01090	TTT		0.428	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		73	560	0	0	0	1	0	73	560					C	91967338	T	C	91967338	3	2	79	1	0	0	0	0	1	0	0	0	3093	1841	64	4	67	4	CDC7	1	91967338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126165	91967338	157283283	800	11117											
TGFBR3	7049	broad.mit.edu	37	chr1	92200439	92200439	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagatgttcatttccatgGgggaagttcctttcttctgt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000525962.1	-	4	523	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.P154P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	154					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CATTTCCATGGGGGAAGTTCC	0.413																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(460-462)ccC>ccA		transforming growth factor, beta receptor III							164	165	165					1																	92200439		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200439G>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.462C>A	1.37:g.92200439G>T						TGFBR3_ENST00000525962.1_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.P154P	p.P154P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	927	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	154					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.462C>A	CCDS30770.1																																																																																				0.413	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		153	627	1	0	6.19006e-74	1	7.88378e-74	153	627					T	92200439	G	T	92200439	2	4	79	1	0	0	0	0	0	0	0	1	15875	1219	43	3		3	TGFBR3	1	92200439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233101	92200439	157050182	801	11118											
BRDT	676	broad.mit.edu	37	chr1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaataaaaagaaagagaagtCtaaaaaggaaaagaaaaaag	8	1	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000362005.3	+	10	1782	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y	BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000370389.2_Missense_Mutation_p.S382Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	455					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGAGAAGTCTAAAAAGGAA	0.323																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1144-1146)tCt>tAt		bromodomain, testis-specific							45	50	48					1																	92446276		2200	4295	6495	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446276C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1364C>A	1.37:g.92446276C>A	ENSP00000354568:p.Ser455Tyr					BRDT_ENST00000362005.3_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	p.S382Y	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	9	2069	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	455					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1145C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656878	0.14580	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.8	4.89	0.63831	.	0.810877	0.10944	N	0.616858	T	0.08268	0.0206	L	0.51422	1.61	0.26267	N	0.978481	P;P;B;P	0.48162	0.906;0.906;0.048;0.906	P;P;B;P	0.44732	0.459;0.459;0.024;0.459	T	0.21314	-1.0249	10	0.72032	D	0.01	-0.1534	9.7956	0.40733	0.1389:0.7913:0.0:0.0698	.	409;409;459;455	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	455;382;455;455;409;455;455	ENSP00000354568:S455Y;ENSP00000359416:S382Y;ENSP00000387822:S455Y;ENSP00000378038:S409Y;ENSP00000404969:S455Y;ENSP00000384051:S455Y	ENSP00000354568:S455Y	S	+	2	0	BRDT	92218864	0.994000	0.37717	0.097000	0.21041	0.118000	0.20060	2.258000	0.43249	1.457000	0.47850	0.650000	0.86243	TCT		0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		21	156	1	0	1.28384e-07	1	1.33406e-07	21	156					A	92446276	C	A	92446276	3	1	79	1	0	0	0	0	1	0	0	0	1512	913	32	3	1394	3	BRDT	1	92446276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245837	92446276	156804345	802	11119											
EPHX4	253152	broad.mit.edu	37	chr1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttaccagtcacagcactgGcattggaagaaaaggatgcc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	248						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(742-744)gGc>gTc		epoxide hydrolase 4							72	67	69					1																	92518101		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92518101G>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.743G>T	1.37:g.92518101G>T	ENSP00000359410:p.Gly248Val						p.G248V	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			6	841	+			248					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.743G>T	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295042	0.81025	.	.	ENSG00000172031	ENST00000370383	T	0.03772	3.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.93283	3.4	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.14117	-1.0484	10	0.59425	D	0.04	.	18.4188	0.90582	0.0:0.0:1.0:0.0	.	248	Q8IUS5	EPHX4_HUMAN	V	248	ENSP00000359410:G248V	ENSP00000359410:G248V	G	+	2	0	EPHX4	92290689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	2.343000	0.79666	0.467000	0.42956	GGC		0.338	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		9	124	1	0	7.48243e-07	1	7.73841e-07	9	124					T	92518101	G	T	92518101	3	4	79	1	0	0	0	0	1	0	0	0	5200	1203	42	3	765	3	EPHX4	1	92518101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71825	92518101	156732520	803	11120											
BTBD8	284697	broad.mit.edu	37	chr1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagaggatatcagtgacaGagatgatgatttcatttcca	9	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000342818.3	+	3	757	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000370382.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(520-522)aGa>aAa		BTB (POZ) domain containing 8							71	69	70					1																	92568203		2203	4299	6502	SO:0001583	missense	284697					nucleus		g.chr1:92568203G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.521G>A	1.37:g.92568203G>A	ENSP00000343686:p.Arg174Lys					BTBD8_ENST00000342818.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K	p.R174K			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	3	788	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	174					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.521G>A	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306939	0.05458	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62232	2.04;0.04;2.03	5.28	-6.7	0.01766	.	1.889290	0.02174	N	0.059959	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06807	-1.0806	10	0.02654	T	1	-16.235	2.599	0.04861	0.4836:0.2246:0.1779:0.114	.	174	Q5XKL5	BTBD8_HUMAN	K	174	ENSP00000359408:R174K;ENSP00000343686:R174K;ENSP00000443397:R174K	ENSP00000343686:R174K	R	+	2	0	BTBD8	92340791	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.200000	0.09478	-0.834000	0.04239	-0.282000	0.10007	AGA		0.333	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		56	214	0	0	0	1	0	56	214					A	92568203	G	A	92568203	3	1	79	1	0	0	0	0	1	0	0	0	1551	942	33	2	531	2	BTBD8	1	92568203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50102	92568203	156682418	804	11121											
GLMN	11146	broad.mit.edu	37	chr1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccatagtcatccatttgTatttgttcttttgagtatgg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	166					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)			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)		CATCCATTTGTATTTGTTCTT	0.373									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(496-498)atA>atG		glomulin, FKBP associated protein							115	111	112					1																	92754605		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.chr1:92754605T>C	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.498A>G	1.37:g.92754605T>C	ENSP00000359385:p.Ile166Met					GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	6	579	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	166					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.498A>G	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426002	0.25726	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.43	-1.13	0.09775	.	0.202236	0.50627	D	0.000107	T	0.10165	0.0249	L	0.27053	0.805	0.35405	D	0.791937	B;B	0.24186	0.099;0.036	B;B	0.29942	0.109;0.034	T	0.04320	-1.0960	10	0.35671	T	0.21	-6.4651	1.6194	0.02710	0.3124:0.1362:0.0946:0.4568	.	166;166	B4DJ85;Q92990	.;GLMN_HUMAN	M	166	ENSP00000359385:I166M;ENSP00000440156:I166M	ENSP00000359385:I166M	I	-	3	3	GLMN	92527193	0.785000	0.28726	0.994000	0.49952	0.740000	0.42216	-0.237000	0.08990	0.341000	0.23771	0.477000	0.44152	ATA		0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		25	276	0	0	0	1	0	25	276					C	92754605	T	C	92754605	3	2	79	1	0	0	0	0	1	0	0	0	6477	1628	57	4	1342	4	GLMN	1	92754605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186402	92754605	156496016	805	11122											
RPAP2	79871	broad.mit.edu	37	chr1	92789302	92789302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcactgagcagttaggCgattgcaaattagatagtca	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117	115	116					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T						RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	275					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.825C>T	CCDS740.1																																																																																				0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		40	376	0	0	0	1	0	40	376					T	92789302	C	T	92789302	2	4	79	1	0	0	0	0	0	0	0	1	13592	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34697	92789302	156461319	806	11123											
RPAP2	79871	broad.mit.edu	37	chr1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatatttacacacaacTtaaaaatcttgttcgaactt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	532					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1594-1596)cTt>cGt		RNA polymerase II associated protein 2							74	79	77					1																	92801960		2203	4298	6501	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92801960T>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1595T>G	1.37:g.92801960T>G	ENSP00000476948:p.Leu532Arg						p.L532R	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	10	1704	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	532					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1595T>G	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092447	0.76756	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.189633	0.47455	D	0.000223	T	0.72293	0.3442	M	0.76002	2.32	0.36136	D	0.846485	D	0.89917	1.0	D	0.71184	0.972	T	0.78411	-0.2214	8	0.87932	D	0	-15.3528	13.4234	0.61011	0.0:0.0:0.0:1.0	.	532	Q8IXW5	RPAP2_HUMAN	R	532	.	ENSP00000359368:L532R	L	+	2	0	RPAP2	92574548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	CTT		0.299	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		29	280	0	0	0	1	0	29	280					G	92801960	T	G	92801960	3	3	79	1	0	0	0	0	1	0	0	0	13592	1609	56	4	1633	4	RPAP2	1	92801960	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12658	92801960	156448661	807	11124											
RPAP2	79871	broad.mit.edu	37	chr1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacatctaaaaaatgaagAccttgaaagtctaaccatca	4	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	597					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1789-1791)gAc>gGc		RNA polymerase II associated protein 2							119	119	119					1																	92846382		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92846382A>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1790A>G	1.37:g.92846382A>G	ENSP00000476948:p.Asp597Gly						p.D597G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	12	1899	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	597					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1790A>G	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928953	0.52759	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.048575	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.37678	D	0.923373	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	8	0.56958	D	0.05	-7.6521	13.5778	0.61885	1.0:0.0:0.0:0.0	.	597	Q8IXW5	RPAP2_HUMAN	G	597	.	ENSP00000359368:D597G	D	+	2	0	RPAP2	92618970	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAC		0.368	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		37	351	0	0	0	1	0	37	351					G	92846382	A	G	92846382	3	3	79	1	0	0	0	0	1	0	0	0	13592	275	10	4	1836	4	RPAP2	1	92846382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44422	92846382	156404239	808	11125											
EVI5	7813	broad.mit.edu	37	chr1	93089889	93089889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtagtacgagctaagtgGcgctaaagcataaaaaatta	9	7	0	0	rs201748980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93089889G>A	ENST00000370331.1	-	14	1632	c.1623C>T	c.(1621-1623)cgC>cgT	p.R541R	EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.R552R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	541	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAGCTAAGTGGCGCTAAAGCA	0.368																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1621-1623)cgC>cgT		ecotropic viral integration site 5							86	75	79					1																	93089889		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93089889G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1623C>T	1.37:g.93089889G>A						EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000491940.1_5'UTR	p.R541R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	14	1632	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	541			Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.1623C>T	CCDS30774.1																																																																																				0.368	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		7	224	0	0	0	1	0	7	224					A	93089889	G	A	93089889	2	1	79	1	0	0	0	0	0	0	0	1	5307	1190	42	2		2	EVI5	1	93089889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243507	93089889	156160732	809	11126											
FAM69A	388650	broad.mit.edu	37	chr1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagatatttcatccGcacatatgagaagcgagcct	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	25						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TATTTCATCCGCACATATGAG	0.383																																						ENST00000370310.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						c.(73-75)Cgg>Tgg		family with sequence similarity 69, member A							77	75	76					1																	93341969		1877	4103	5980	SO:0001583	missense	388650					endoplasmic reticulum membrane|integral to membrane		g.chr1:93341969G>A	AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.73C>T	1.37:g.93341969G>A	ENSP00000359333:p.Arg25Trp						p.R25W	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)	2	143	-		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	25					Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	c.73C>T	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604616	0.87157	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.59	4.66	0.58398	.	0.057952	0.64402	D	0.000002	T	0.54078	0.1836	L	0.52573	1.65	0.50467	D	0.999871	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.74674	0.849;0.849;0.984	T	0.61058	-0.7139	10	0.72032	D	0.01	-11.1064	15.6626	0.77199	0.0:0.0:0.8617:0.1383	.	18;25;25	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	W	25	ENSP00000359333:R25W	ENSP00000359333:R25W	R	-	1	2	FAM69A	93114557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.519000	0.81809	1.440000	0.47531	0.655000	0.94253	CGG		0.383	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		21	157	0	0	0	1	0	21	157					A	93341969	G	A	93341969	3	1	79	1	0	0	0	0	1	0	0	0	5627	1086	38	1	1229	1	FAM69A	1	93341969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252080	93341969	155908652	810	11127											
MTF2	22823	broad.mit.edu	37	chr1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacacctatgcctttacaAcctaagtgttattcataaga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000471953.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	276					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCTTTACAACCTAAGTGTT	0.343																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(826-828)aAc>aCc		metal response element binding transcription factor 2							140	141	140					1																	93586135		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93586135A>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.827A>C	1.37:g.93586135A>C	ENSP00000359321:p.Asn276Thr					MTF2_ENST00000471953.1_Intron|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T	p.N276T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	9	1116	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	276					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.827A>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710211	0.89018	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.83312	2.635	0.80722	D	1	P;D	0.56968	0.931;0.978	P;P	0.58013	0.766;0.831	T	0.21586	-1.0241	10	0.72032	D	0.01	-5.9945	16.2484	0.82467	1.0:0.0:0.0:0.0	.	276;276	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	174;174;276;174;276	ENSP00000444962:N174T;ENSP00000443295:N174T;ENSP00000359321:N276T;ENSP00000359326:N276T	ENSP00000359321:N276T	N	+	2	0	MTF2	93358723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.057000	0.93889	2.291000	0.77112	0.533000	0.62120	AAC		0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		60	262	0	0	0	1	0	60	262					C	93586135	A	C	93586135	3	2	79	1	0	0	0	0	1	0	0	0	9964	43	2	4	861	4	MTF2	1	93586135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	244166	93586135	155664486	811	11128											
CCDC18	50999	broad.mit.edu	37	chr1	93646151	93646151	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtagtcccgggcgggctCcgctagtgggctcgggcgcg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93646151C>T	ENST00000370282.3	-	0	134				CCDC18_ENST00000557479.1_Missense_Mutation_p.P22S|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|TMED5_ENST00000370280.1_5'Flank|TMED5_ENST00000479918.1_5'Flank	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CGGGCGGGCTCCGCTAGTGGG	0.731																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(64-66)Ccg>Tcg		coiled-coil domain containing 18							18	20	19					1																	93646151		1818	4061	5879	SO:0001623	5_prime_UTR_variant	343099							g.chr1:93646151C>T	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-352G>A	1.37:g.93646151C>T						CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron	p.P22S	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	232	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.64C>T	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910605	0.02434	.	.	ENSG00000122483	ENST00000557479	.	.	.	3.12	-1.51	0.08664	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.20403	N	0.999904	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	7	0.25751	T	0.34	.	3.8311	0.08874	0.0:0.3374:0.3972:0.2654	.	22	G3V388	.	S	22	.	ENSP00000383808:P22S	P	+	1	0	CCDC18	93418739	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.251000	0.02882	-0.177000	0.10690	0.561000	0.74099	CCG		0.731	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		42	153	0	0	0	1	0	42	153					T	93646151	C	T	93646151	1	4	79	0	1	0	0	0	0	0	0	0	2801	855	30	2		2	CCDC18	1	93646151	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60016	93646151	155604470	812	11129											
CCDC18	343099	broad.mit.edu	37	chr1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaacttcaaaaacaaaggGaaagttcagctgaaaagttg	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	832										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAACAAAGGGAAAGTTCAGC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2494-2496)Gaa>Aaa		coiled-coil domain containing 18							90	83	85					1																	93701841		1833	4083	5916	SO:0001583	missense	343099							g.chr1:93701841G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2494G>A	1.37:g.93701841G>A	ENSP00000343377:p.Glu832Lys					CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000421014.2_Intron	p.E832K			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	19	2996	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	832					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2494G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469612	0.84533	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T	0.69435	-0.4	4.57	4.57	0.56435	.	0.272209	0.34386	N	0.004008	T	0.58163	0.2103	N	0.22421	0.69	0.36801	D	0.885378	P;D	0.61697	0.939;0.99	P;P	0.57911	0.503;0.829	T	0.60146	-0.7320	10	0.36615	T	0.2	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	832;951	Q5T9S5;G3V388	CCD18_HUMAN;.	K	832;833;951;588;128;508	ENSP00000334084:E128K	ENSP00000334084:E128K	E	+	1	0	CCDC18	93474429	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.191000	0.72063	2.485000	0.83878	0.650000	0.86243	GAA		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		29	231	0	0	0	1	0	29	231					A	93701841	G	A	93701841	3	1	79	1	0	0	0	0	1	0	0	0	2801	1175	41	2	2925	2	CCDC18	1	93701841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55690	93701841	155548780	813	11130											
FNBP1L	54874	broad.mit.edu	37	chr1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaacgaaggactattaAactcagtgagtgttacagag	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000271234.7	+	8	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	225	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(673-675)aAa>aCa		formin binding protein 1-like							80	72	74					1																	93998513		1831	4096	5927	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93998513A>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.674A>C	1.37:g.93998513A>C	ENSP00000271234:p.Lys225Thr					FNBP1L_ENST00000271234.7_Missense_Mutation_p.K225T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T	p.K225T	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	8	825	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	225			Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.674A>C	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595502	0.86953	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.865	D;D;B	0.87578	0.994;0.998;0.408	T	0.03739	-1.1008	10	0.36615	T	0.2	-19.1227	15.7725	0.78180	1.0:0.0:0.0:0.0	.	45;225;225	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	225;225;225;225;92	ENSP00000359278:K225T;ENSP00000271234:K225T;ENSP00000260506:K225T;ENSP00000359275:K225T	ENSP00000260506:K225T	K	+	2	0	FNBP1L	93771101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.131000	0.65755	0.482000	0.46254	AAA		0.323	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		16	127	0	0	0	1	0	16	127					C	93998513	A	C	93998513	3	2	79	1	0	0	0	0	1	0	0	0	5991	14	1	4	704	4	FNBP1L	1	93998513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296672	93998513	155252108	814	11131											
FNBP1L	54874	broad.mit.edu	37	chr1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgttacagaggatttgCtgactcagaacgcaaagtta	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000271234.7	+	8	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	234	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(700-702)gCt>gAt		formin binding protein 1-like							84	79	81					1																	93998540		1849	4105	5954	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93998540C>A		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.701C>A	1.37:g.93998540C>A	ENSP00000271234:p.Ala234Asp					FNBP1L_ENST00000271234.7_Missense_Mutation_p.A234D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D	p.A234D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	8	852	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	234			Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.701C>A	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.87578	0.997;0.998;0.82	T	0.37150	-0.9718	10	0.72032	D	0.01	-25.113	19.8206	0.96591	0.0:1.0:0.0:0.0	.	54;234;234	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	D	234;234;234;234;101	ENSP00000359278:A234D;ENSP00000271234:A234D;ENSP00000260506:A234D;ENSP00000359275:A234D	ENSP00000260506:A234D	A	+	2	0	FNBP1L	93771128	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.252000	0.78309	2.686000	0.91538	0.591000	0.81541	GCT		0.328	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		17	142	1	0	2.23348e-06	1	2.30073e-06	17	142					A	93998540	C	A	93998540	3	1	79	1	0	0	0	0	1	0	0	0	5991	797	28	3	731	3	FNBP1L	1	93998540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	93998540	155252081	815	11132											
BCAR3	8412	broad.mit.edu	37	chr1	94140364	94140364	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatagacacatcttgataGgcatctgggcgatgctcagc	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	41					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(121-123)gcC>gcA		breast cancer anti-estrogen resistance 3							77	70	72					1																	94140364		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94140364G>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.123C>A	1.37:g.94140364G>T						BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	4	411	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	41					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.123C>A	CCDS745.1																																																																																				0.562	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			48	157	1	0	1.48734e-19	1	1.65976e-19	48	157					T	94140364	G	T	94140364	2	4	79	1	0	0	0	0	0	0	0	1	1350	987	35	3		3	BCAR3	1	94140364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141824	94140364	155110257	816	11133											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342258	94342258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcccttcactgttcatGtcttcactgacacttataac	3	13	4	1	rs544151323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACTGTTCATGTCTTCACTGA	0.398																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(1231-1233)gaC>gaT		deoxynucleotidyltransferase, terminal, interacting protein 2							268	260	263					1																	94342258		1991	4152	6143	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342258G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1233C>T	1.37:g.94342258G>A						DNTTIP2_ENST00000460191.1_5'UTR	p.D411D	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1290	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	411					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1233C>T	CCDS44174.1																																																																																				0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		229	730	0	0	0	1	0	229	730					A	94342258	G	A	94342258	2	1	79	1	0	0	0	0	0	0	0	1	4698	1368	48	2		2	DNTTIP2	1	94342258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201894	94342258	154908363	817	11134											
GCLM	2730	broad.mit.edu	37	chr1	94354716	94354716	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttgcttcagaaagcagttCtaaaagaaacaacaacaaac	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94354716C>A	ENST00000370238.3	-	7	902		c.e7-1			NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit						apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	GAAAGCAGTTCTAAAAGAAAC	0.408																																						ENST00000370238.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e7-1		glutamate-cysteine ligase, modifier subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						25	26	26					1																	94354716		2203	4299	6502	SO:0001630	splice_region_variant	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94354716C>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.656-1G>T	1.37:g.94354716C>A								NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	7	902	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)						A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Splice_Site	SNP	ENST00000370238.3	37		CCDS746.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001447	0.54254	.	.	ENSG00000023909	ENST00000370238	.	.	.	5.33	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9411	0.64054	0.0:0.9264:0.0:0.0736	.	.	.	.	.	-1	.	.	.	-	.	.	GCLM	94127304	1.000000	0.71417	0.987000	0.45799	0.728000	0.41692	7.334000	0.79224	1.255000	0.44051	-0.229000	0.12294	.		0.408	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061	Intron	13	100	1	0	5.50884e-06	1	5.65664e-06	13	100					A	94354716	C	A	94354716	5	1	79	1	0	0	0	0	0	0	1	0	6324	927	32	3	173	3	GCLM	1	94354716	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12458	94354716	154895905	818	11135											
ABCA4	24	broad.mit.edu	37	chr1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttttcaccttttcgatTtcttctgctggtacacctcg	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2046	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTTTTCGATTTCTTCTGCTG	0.433																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6136-6138)gaA>gaC		ATP-binding cassette, sub-family A (ABC1), member 4							116	114	114					1																	94471006		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94471006T>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6138A>C	1.37:g.94471006T>G	ENSP00000359245:p.Glu2046Asp					ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000465352.1_5'UTR	p.E2046D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	44	6224	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2046			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6138A>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209488	0.09757	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.94376	-3.41;-3.41;-3.41	5.63	1.82	0.25136	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.153113	0.56097	D	0.000022	T	0.72112	0.3420	N	0.20766	0.605	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.003;0.02	T	0.62618	-0.6816	10	0.12103	T	0.63	.	4.9251	0.13889	0.1166:0.0655:0.1216:0.6963	.	165;2046	B4DX12;P78363	.;ABCA4_HUMAN	D	838;2046;316;165	ENSP00000359245:E2046D;ENSP00000439707:E316D;ENSP00000443203:E165D	ENSP00000359245:E2046D	E	-	3	2	ABCA4	94243594	1.000000	0.71417	0.912000	0.35992	0.186000	0.23388	1.500000	0.35682	0.500000	0.27991	0.533000	0.62120	GAA		0.433	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		93	366	0	0	0	1	0	93	366					G	94471006	T	G	94471006	3	3	79	1	0	0	0	0	1	0	0	0	34	1838	64	4	711	4	ABCA4	1	94471006	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116290	94471006	154779615	819	11136											
ABCA4	24	broad.mit.edu	37	chr1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctggttctcgtagaaggTgatgttcagacggtccacag	13	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	952	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTAGAAGGTGATGTTCAGA	0.547																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2854-2856)Acc>Gcc		ATP-binding cassette, sub-family A (ABC1), member 4							154	157	156					1																	94512539		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512539T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2854A>G	1.37:g.94512539T>C	ENSP00000359245:p.Thr952Ala					ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	p.T952A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2940	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	952			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2854A>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682285	0.68042	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94092	-3.35;-2.87	5.62	5.62	0.85841	ABC transporter-like (1);	0.193028	0.56097	D	0.000039	D	0.84120	0.5402	N	0.21142	0.635	0.28085	N	0.932033	B;B	0.33940	0.433;0.001	B;B	0.35182	0.197;0.006	T	0.82200	-0.0575	10	0.72032	D	0.01	.	15.8271	0.78718	0.0:0.0:0.0:1.0	.	878;952	F5H6E5;P78363	.;ABCA4_HUMAN	A	952;878	ENSP00000359245:T952A;ENSP00000437682:T878A	ENSP00000359245:T952A	T	-	1	0	ABCA4	94285127	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.148000	0.71788	2.149000	0.67028	0.533000	0.62120	ACC		0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		88	798	0	0	0	1	0	88	798					C	94512539	T	C	94512539	3	2	79	1	0	0	0	0	1	0	0	0	34	1696	59	4	4095	4	ABCA4	1	94512539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41533	94512539	154738082	820	11137											
ABCA4	24	broad.mit.edu	37	chr1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcggtcttttccagggCtctttcttctctggttgaac	11	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	893					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTCCAGGGCTCTTTCTTCT	0.532																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2677-2679)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							136	123	127					1																	94514490		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94514490C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2677G>A	1.37:g.94514490C>T	ENSP00000359245:p.Ala893Thr					ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	p.A893T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2763	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	893					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2677G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178708	0.38511	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91792	-2.79;-2.91	5.35	4.42	0.53409	.	1.078010	0.07078	N	0.836569	D	0.87434	0.6176	L	0.36672	1.1	0.22940	N	0.998535	D;B	0.58268	0.982;0.001	P;B	0.55615	0.78;0.005	T	0.76719	-0.2856	10	0.20519	T	0.43	.	9.2755	0.37696	0.0:0.9035:0.0:0.0965	.	819;893	F5H6E5;P78363	.;ABCA4_HUMAN	T	893;819	ENSP00000359245:A893T;ENSP00000437682:A819T	ENSP00000359245:A893T	A	-	1	0	ABCA4	94287078	0.030000	0.19436	1.000000	0.80357	0.960000	0.62799	0.969000	0.29370	2.642000	0.89623	0.655000	0.94253	GCC		0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		28	223	0	0	0	1	0	28	223					T	94514490	C	T	94514490	3	4	79	1	0	0	0	0	1	0	0	0	34	797	28	2	4276	2	ABCA4	1	94514490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951	94514490	154736131	821	11138											
ABCA4	24	broad.mit.edu	37	chr1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgcggtcctgccaggCgaagcacaggatgtgtggca	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGCCAGGCGAAGCACAGG	0.582																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2341-2343)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							70	59	63					1																	94522198		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94522198C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2341G>A	1.37:g.94522198C>T	ENSP00000359245:p.Ala781Thr					ABCA4_ENST00000535735.1_Intron	p.A781T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	15	2427	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	781					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2341G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685822	0.96784	.	.	ENSG00000198691	ENST00000370225	T	0.77750	-1.12	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.70176	0.3194	M	0.64630	1.985	0.80722	D	1	B	0.34329	0.449	B	0.35470	0.203	T	0.70938	-0.4736	10	0.36615	T	0.2	.	19.4483	0.94857	0.0:1.0:0.0:0.0	.	781	P78363	ABCA4_HUMAN	T	781	ENSP00000359245:A781T	ENSP00000359245:A781T	A	-	1	0	ABCA4	94294786	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	3.270000	0.51600	2.673000	0.90976	0.561000	0.74099	GCC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		25	124	0	0	0	1	0	25	124					T	94522198	C	T	94522198	3	4	79	1	0	0	0	0	1	0	0	0	34	768	27	1	4624	1	ABCA4	1	94522198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7708	94522198	154728423	822	11139											
ABCA4	24	broad.mit.edu	37	chr1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtagggcatctgctggAggtagattccaactggagcc	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	634					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCTGCTGGAGGTAGATTCC	0.592																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1900-1902)cTc>cCc		ATP-binding cassette, sub-family A (ABC1), member 4							75	73	74					1																	94528169		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528169A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1901T>C	1.37:g.94528169A>G	ENSP00000359245:p.Leu634Pro					ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	13	1987	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	634					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1901T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537521	0.85917	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89552	-2.53;-2.53	4.95	4.95	0.65309	.	0.167184	0.41823	D	0.000818	D	0.94006	0.8080	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.596	D;B	0.72075	0.976;0.324	D	0.95079	0.8211	10	0.87932	D	0	.	14.7803	0.69760	1.0:0.0:0.0:0.0	.	634;634	F5H6E5;P78363	.;ABCA4_HUMAN	P	634	ENSP00000359245:L634P;ENSP00000437682:L634P	ENSP00000359245:L634P	L	-	2	0	ABCA4	94300757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.037000	0.93765	2.079000	0.62486	0.459000	0.35465	CTC		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	219	0	0	0	1	0	9	219					G	94528169	A	G	94528169	3	3	79	1	0	0	0	0	1	0	0	0	34	304	11	4	5072	4	ABCA4	1	94528169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5971	94528169	154722452	823	11140											
ARHGAP29	9411	broad.mit.edu	37	chr1	94639786	94639786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtaggaatctgaagacCgtctctcagatgcctctctc	11	11	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94639786C>T	ENST00000260526.6	-	23	3607	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1142					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTGAAGACCGTCTCTCAGA	0.498																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3424-3426)cGg>cAg		Rho GTPase activating protein 29							140	126	131					1																	94639786		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639786C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3425G>A	1.37:g.94639786C>T	ENSP00000260526:p.Arg1142Gln						p.R1142Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3607	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1142					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3425G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137876	0.21123	.	.	ENSG00000137962	ENST00000260526	T	0.21734	1.99	5.49	4.58	0.56647	.	0.460547	0.16094	N	0.229933	T	0.06917	0.0176	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.08055	0.003	T	0.10405	-1.0631	10	0.37606	T	0.19	-1.3531	4.8628	0.13592	0.0:0.5952:0.162:0.2428	.	1142	Q52LW3	RHG29_HUMAN	Q	1142	ENSP00000260526:R1142Q	ENSP00000260526:R1142Q	R	-	2	0	ARHGAP29	94412374	0.985000	0.35326	0.982000	0.44146	0.058000	0.15608	1.674000	0.37544	1.333000	0.45449	0.591000	0.81541	CGG		0.498	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		14	441	0	0	0	1	0	14	441					T	94639786	C	T	94639786	3	4	79	1	0	0	0	0	1	0	0	0	878	652	23	1	364	1	ARHGAP29	1	94639786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111617	94639786	154610835	824	11141											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643259	94643259	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaaaattttgctttcactCtctgaagtatggatatcctg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	938					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTTCACTCTCTGAAGTAT	0.333																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2812-2814)gaG>gaA		Rho GTPase activating protein 29							114	107	110					1																	94643259		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643259C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2814G>A	1.37:g.94643259C>T						ARHGAP29_ENST00000482481.1_5'UTR	p.E938E	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	22	2996	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	938					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.2814G>A	CCDS748.1																																																																																				0.333	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		23	228	0	0	0	1	0	23	228					T	94643259	C	T	94643259	2	4	79	1	0	0	0	0	0	0	0	1	878	912	32	2		2	ARHGAP29	1	94643259	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	94643259	154607362	825	11142											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaaaaaatagtgacTtcatggaacgttcaatgtct	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	924					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATAGTGACTTCATGGAACG	0.323																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2770-2772)aAg>aTg		Rho GTPase activating protein 29							67	70	69					1																	94643433		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643433T>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2771A>T	1.37:g.94643433T>A	ENSP00000260526:p.Lys924Met					ARHGAP29_ENST00000482481.1_5'UTR	p.K924M	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	21	2953	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	924					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2771A>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283999	0.59867	.	.	ENSG00000137962	ENST00000260526	T	0.26660	1.72	5.55	5.55	0.83447	.	0.000000	0.40469	N	0.001092	T	0.37376	0.1001	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.17471	-1.0368	10	0.62326	D	0.03	-18.0172	16.008	0.80377	0.0:0.0:0.0:1.0	.	924;924	F8VWZ8;Q52LW3	.;RHG29_HUMAN	M	924	ENSP00000260526:K924M	ENSP00000260526:K924M	K	-	2	0	ARHGAP29	94416021	1.000000	0.71417	0.368000	0.25939	0.537000	0.34900	6.199000	0.72112	2.250000	0.74265	0.533000	0.62120	AAG		0.323	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		58	216	0	0	0	1	0	58	216					A	94643433	T	A	94643433	3	1	79	1	0	0	0	0	1	0	0	0	878	1609	56	5	1026	5	ARHGAP29	1	94643433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	94643433	154607188	826	11143											
ARHGAP29	9411	broad.mit.edu	37	chr1	94668169	94668169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagattttttgctaatccGccacttgaagacagatgctc	8	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	358					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGCTAATCCGCCACTTGAAG	0.373																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1072-1074)ggC>ggT		Rho GTPase activating protein 29							143	135	138					1																	94668169		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94668169G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1074C>T	1.37:g.94668169G>A						ARHGAP29_ENST00000370217.3_Silent_p.G358G	p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	11	1256	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	358					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.1074C>T	CCDS748.1																																																																																				0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		132	495	0	0	0	1	0	132	495					A	94668169	G	A	94668169	2	1	79	1	0	0	0	0	0	0	0	1	878	1074	38	1		1	ARHGAP29	1	94668169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24736	94668169	154582452	827	11144											
ARHGAP29	9411	broad.mit.edu	37	chr1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctcgatagagtcagtgttCtttaacagcacgttgtctag	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	200					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGTCAGTGTTCTTTAACAGCA	0.338																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(598-600)aaG>aaT		Rho GTPase activating protein 29							74	72	73					1																	94670714		2202	4300	6502	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94670714C>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.600G>T	1.37:g.94670714C>A	ENSP00000260526:p.Lys200Asn					ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	7	782	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	200					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.600G>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615885	0.46631	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.23950	1.91;1.88	5.87	2.99	0.34606	.	0.000000	0.40385	N	0.001118	T	0.17789	0.0427	L	0.46157	1.445	0.35628	D	0.810027	P;B	0.51933	0.949;0.23	P;B	0.49192	0.602;0.131	T	0.03212	-1.1060	10	0.72032	D	0.01	-24.0817	11.4447	0.50116	0.0:0.7044:0.0:0.2956	.	200;200	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	N	200	ENSP00000260526:K200N;ENSP00000359237:K200N	ENSP00000260526:K200N	K	-	3	2	ARHGAP29	94443302	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.221000	0.32503	0.956000	0.37904	0.655000	0.94253	AAG		0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		10	173	1	0	1.58986e-06	1	1.64048e-06	10	173					A	94670714	C	A	94670714	3	1	79	1	0	0	0	0	1	0	0	0	878	912	32	3	3253	3	ARHGAP29	1	94670714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2545	94670714	154579907	828	11145											
ABCD3	5825	broad.mit.edu	37	chr1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaattttagttttactgCtcggattacagaattaatgc	6	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	389					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1165-1167)gCt>gAt		ATP-binding cassette, sub-family D (ALD), member 3							59	59	59					1																	94955289		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94955289C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1166C>A	1.37:g.94955289C>A	ENSP00000359233:p.Ala389Asp					ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D	p.A389D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	14	1190	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	389					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1166C>A	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203575	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.97710	-3.44;-4.5;-4.5;-4.5	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);	0.051119	0.85682	D	0.000000	D	0.98015	0.9346	M	0.66506	2.035	0.80722	D	1	P;D;P	0.63046	0.913;0.992;0.751	B;P;B	0.57101	0.382;0.813;0.382	D	0.98364	1.0550	10	0.72032	D	0.01	-15.5917	19.9326	0.97124	0.0:1.0:0.0:0.0	.	413;279;389	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	279;413;316;389	ENSP00000377780:A279D;ENSP00000403357:A413D;ENSP00000440692:A316D;ENSP00000359233:A389D	ENSP00000359233:A389D	A	+	2	0	ABCD3	94727877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GCT		0.313	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		39	120	1	0	3.38236e-24	1	3.86174e-24	39	120					A	94955289	C	A	94955289	3	1	79	1	0	0	0	0	1	0	0	0	62	797	28	3	1251	3	ABCD3	1	94955289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284575	94955289	154295332	829	11146											
ABCD3	5825	broad.mit.edu	37	chr1	94965137	94965137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgttcaggattggatggaCgtactcagtggtggagaaaa	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000394233.2_Silent_p.D459D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	569	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1705-1707)gaC>gaT		ATP-binding cassette, sub-family D (ALD), member 3							178	147	157					1																	94965137		2203	4300	6503	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94965137C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1707C>T	1.37:g.94965137C>T						ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000454898.2_Silent_p.D593D	p.D569D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	20	1731	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	569			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1707C>T	CCDS749.1																																																																																				0.438	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		45	334	0	0	0	1	0	45	334					T	94965137	C	T	94965137	2	4	79	1	0	0	0	0	0	0	0	1	62	535	19	1		1	ABCD3	1	94965137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9848	94965137	154285484	830	11147											
CNN3	1266	broad.mit.edu	37	chr1	95363358	95363358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtcatcctggtactcGccatgatactcatcagggta	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000538964.1_Silent_p.G310G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	310	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(928-930)ggC>ggT		calponin 3, acidic							265	231	242					1																	95363358		2203	4300	6503	SO:0001819	synonymous_variant	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95363358G>A	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.930C>T	1.37:g.95363358G>A						CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000538964.1_Silent_p.G310G	p.G310G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	7	1313	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	310			Asp/Glu-rich (acidic).		B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	c.930C>T	CCDS30775.1																																																																																				0.428	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		48	696	0	0	0	1	0	48	696					A	95363358	G	A	95363358	2	1	79	1	0	0	0	0	0	0	0	1	3620	1074	38	1		1	CNN3	1	95363358	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398221	95363358	153887263	831	11148											
CNN3	1266	broad.mit.edu	37	chr1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcttctatccaattgCgaagatcttcttctgcctga	5	13	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	33	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(97-99)cGc>cAc		calponin 3, acidic							114	105	108					1																	95369040		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95369040C>T	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.98G>A	1.37:g.95369040C>T	ENSP00000359225:p.Arg33His					CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H	p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	2	481	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	33			CH.		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.98G>A	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302712	0.81136	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.87758	2.905	0.80722	D	1	P;D	0.71674	0.877;0.998	B;D	0.80764	0.302;0.994	D	0.97032	0.9751	10	0.52906	T	0.07	-12.6225	20.1649	0.98147	0.0:1.0:0.0:0.0	.	33;33	F8WA86;Q15417	.;CNN3_HUMAN	H	33	ENSP00000359225:R33H;ENSP00000437665:R33H;ENSP00000377752:R33H	ENSP00000359225:R33H	R	-	2	0	CNN3	95141628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.753000	0.94483	0.655000	0.94253	CGC		0.458	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		71	289	0	0	0	1	0	71	289					T	95369040	C	T	95369040	3	4	79	1	0	0	0	0	1	0	0	0	3620	768	27	1	915	1	CNN3	1	95369040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5682	95369040	153881581	832	11149											
PTBP2	58155	broad.mit.edu	37	chr1	97217025	97217025	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagtgttctcagtagtccGaactctaatatgagcagcat	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(82-84)ccG>ccA		polypyrimidine tract binding protein 2							228	217	221					1																	97217025		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97217025G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.84G>A	1.37:g.97217025G>A						PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR	p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	3	166	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	28					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.84G>A	CCDS754.1																																																																																				0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			169	635	0	0	0	1	0	169	635					A	97217025	G	A	97217025	2	1	79	1	0	0	0	0	0	0	0	1	12773	1045	37	1		1	PTBP2	1	97217025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1847985	97217025	152033596	833	11150											
DPYD	1806	broad.mit.edu	37	chr1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccagataaggtccaAaacttggcagtttctaaaag	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	879					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATAAGGTCCAAAACTTGGCAG	0.323																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2635-2637)tTt>tCt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						86	83	84					1																	97564175		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564175A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2636T>C	1.37:g.97564175A>G	ENSP00000359211:p.Phe879Ser					DPYD-AS1_ENST00000422980.1_RNA	p.F879S	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2736	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	879					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2636T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197189	0.79015	.	.	ENSG00000188641	ENST00000370192	D	0.89810	-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-20.0261	14.7536	0.69546	1.0:0.0:0.0:0.0	.	879	Q12882	DPYD_HUMAN	S	879	ENSP00000359211:F879S	ENSP00000359211:F879S	F	-	2	0	DPYD	97336763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.285000	0.76669	0.482000	0.46254	TTT		0.323	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		31	192	0	0	0	1	0	31	192					G	97564175	A	G	97564175	3	3	79	1	0	0	0	0	1	0	0	0	4761	14	1	4	453	4	DPYD	1	97564175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347150	97564175	151686446	834	11151											
DPYD	1806	broad.mit.edu	37	chr1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctttgcagctcttgCgatgctcacaatatcagtga	7	12	3	1	rs145548112	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	721					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCAGCTCTTGCGATGCTCACA	0.458													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.0					ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2161-2163)Gca>Aca		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)	C	THR/ALA	0,4406		0,0,2203	210	211	211		2161	6.1	1	1	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DPYD	NM_000110.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	721/1026	97771751	1,13005	2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771751C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2161G>A	1.37:g.97771751C>T	ENSP00000359211:p.Ala721Thr					DPYD-AS1_ENST00000422980.1_RNA	p.A721T	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2261	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	721					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2161G>A	CCDS30777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622629	0.87460	0.0	1.16E-4	ENSG00000188641	ENST00000370192	T	0.81078	-1.45	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95223	0.8335	10	0.87932	D	0	-19.2961	20.6721	0.99693	0.0:1.0:0.0:0.0	.	721	Q12882	DPYD_HUMAN	T	721	ENSP00000359211:A721T	ENSP00000359211:A721T	A	-	1	0	DPYD	97544339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.894000	0.99253	0.591000	0.81541	GCA		0.458	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		210	796	0	0	0	1	0	210	796					T	97771751	C	T	97771751	3	4	79	1	0	0	0	0	1	0	0	0	4761	768	27	1	944	1	DPYD	1	97771751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207576	97771751	151478870	835	11152											
SNX7	51375	broad.mit.edu	37	chr1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagaagcaaggtcctgGcttgctaagcaggatggggc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000306121.3	+	5	680	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_ENST00000370189.5_Missense_Mutation_p.G160V|SNX7_ENST00000529992.1_Missense_Mutation_p.G169V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	160					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(478-480)gGc>gTc		sorting nexin 7							59	68	65					1																	99161105		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161105G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.671G>T	1.37:g.99161105G>T	ENSP00000304429:p.Gly224Val					SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000306121.3_Missense_Mutation_p.G224V	p.G160V			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	843	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	160					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.479G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087998	0.76642	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.38722	1.23;1.88;1.12	5.66	5.66	0.87406	.	0.340418	0.35013	N	0.003511	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.981;0.974	T	0.60296	-0.7291	10	0.66056	D	0.02	-34.4901	20.1041	0.97884	0.0:0.0:1.0:0.0	.	169;224;160	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	160;169;224	ENSP00000359208:G160V;ENSP00000434731:G169V;ENSP00000304429:G224V	ENSP00000304429:G224V	G	+	2	0	SNX7	98933693	1.000000	0.71417	0.917000	0.36280	0.399000	0.30720	9.778000	0.99011	2.826000	0.97356	0.655000	0.94253	GGC		0.408	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			23	287	1	0	3.7963e-18	1	4.20509e-18	23	287					T	99161105	G	T	99161105	3	4	79	1	0	0	0	0	1	0	0	0	14957	1203	42	3	689	3	SNX7	1	99161105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1389354	99161105	150089516	836	11153											
SNX7	51375	broad.mit.edu	37	chr1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcatggaaatgaataActttattgaactatttagcc	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000306121.3	+	5	773	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_ENST00000370189.5_Missense_Mutation_p.N191T|SNX7_ENST00000529992.1_Missense_Mutation_p.N200T	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(571-573)aAc>aCc		sorting nexin 7							46	56	53					1																	99161198		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161198A>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.764A>C	1.37:g.99161198A>C	ENSP00000304429:p.Asn255Thr					SNX7_ENST00000529992.1_Missense_Mutation_p.N200T|SNX7_ENST00000306121.3_Missense_Mutation_p.N255T	p.N191T			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	936	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	191					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.572A>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275549	0.40294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21031	2.03;2.03;2.03	5.65	3.29	0.37713	.	0.577696	0.20020	N	0.100928	T	0.04227	0.0117	N	0.14661	0.345	0.27522	N	0.951357	B;B;B	0.31351	0.32;0.217;0.053	B;B;B	0.34991	0.193;0.138;0.062	T	0.40572	-0.9556	10	0.26408	T	0.33	-8.4051	8.6247	0.33881	0.8021:0.1305:0.0674:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	T	191;200;255	ENSP00000359208:N191T;ENSP00000434731:N200T;ENSP00000304429:N255T	ENSP00000304429:N255T	N	+	2	0	SNX7	98933786	0.991000	0.36638	0.988000	0.46212	0.884000	0.51177	3.117000	0.50407	0.483000	0.27608	-0.323000	0.08544	AAC		0.383	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			67	269	0	0	0	1	0	67	269					C	99161198	A	C	99161198	3	2	79	1	0	0	0	0	1	0	0	0	14957	43	2	4	782	4	SNX7	1	99161198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93	99161198	150089423	837	11154											
LPPR5	163404	broad.mit.edu	37	chr1	99470004	99470004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaccacgagcacggggAccccggcggccagcgagtag	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	ENST00000263177.4	-	1	445	c.224T>C	c.(223-225)gTc>gCc	p.V75A	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR|LPPR5_ENST00000370188.3_Missense_Mutation_p.V75A	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		75						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GAGCACGGGGACCCCGGCGGC	0.726																																						ENST00000370188.3																			0											c.(223-225)gTc>gCc									14	15	15					1																	99470004		2196	4288	6484	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99470004A>G																												ENST00000263177.4:c.224T>C	1.37:g.99470004A>G	ENSP00000263177:p.Val75Ala					LPPR5_ENST00000534652.1_5'UTR|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.V75A	p.V75A	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			1	584	-			75					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.224T>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447927	0.63178	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.30981	1.51;1.51	5.17	4.0	0.46444	.	0.124209	0.53938	D	0.000055	T	0.09992	0.0245	N	0.21583	0.68	0.44061	D	0.996809	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.04855	-1.0922	10	0.56958	D	0.05	.	10.9157	0.47135	0.8422:0.1578:0.0:0.0	.	75;75	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	A	75	ENSP00000359207:V75A;ENSP00000263177:V75A	ENSP00000263177:V75A	V	-	2	0	AL161744.1	99242592	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.053000	0.93860	0.750000	0.32877	0.459000	0.35465	GTC		0.726	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			10	91	0	0	0	1	0	10	91					G	99470004	A	G	99470004	3	3	79	1	0	0	0	0	1	0	0	0	8966	275	10	4	765	4	LPPR5	1	99470004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308806	99470004	149780617	838	11155											
LPPR4	9890	broad.mit.edu	37	chr1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatggtagcagcagtgatgGaattgctcatacagaaggca	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		368					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1102-1104)gGa>gAa									120	116	117					1																	99771377		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771377G>A																												ENST00000370185.3:c.1103G>A	1.37:g.99771377G>A	ENSP00000359204:p.Gly368Glu					LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E|LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E	p.G368E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1600	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	368					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1103G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584365	0.00872	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.20069	2.68;2.71;2.1	5.62	5.62	0.85841	.	1.058360	0.07212	N	0.859466	T	0.10937	0.0267	N	0.12182	0.205	0.44562	D	0.997521	P;B	0.49783	0.928;0.276	P;B	0.47573	0.55;0.142	T	0.19160	-1.0314	9	.	.	.	-21.9674	15.9536	0.79861	0.0:0.1349:0.8651:0.0	.	310;368	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	368;310;368;210	ENSP00000359204:G368E;ENSP00000394913:G310E;ENSP00000359203:G210E	.	G	+	2	0	RP4-788L13.1	99543965	1.000000	0.71417	0.997000	0.53966	0.152000	0.21847	5.988000	0.70579	2.633000	0.89246	0.655000	0.94253	GGA		0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			45	407	0	0	0	1	0	45	407					A	99771377	G	A	99771377	3	1	79	1	0	0	0	0	1	0	0	0	8965	1174	41	2	1129	2	LPPR4	1	99771377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301373	99771377	149479244	839	11156											
LPPR4	9890	broad.mit.edu	37	chr1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttcagcaataccttgcCgcgagccaataccccatctg	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1252-1254)cCg>cTg									55	56	56					1																	99771527		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771527C>T																												ENST00000370185.3:c.1253C>T	1.37:g.99771527C>T	ENSP00000359204:p.Pro418Leu					LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L	p.P418L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1750	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	418					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1253C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	RP4-788L13.1	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			61	243	0	0	0	1	0	61	243					T	99771527	C	T	99771527	3	4	79	1	0	0	0	0	1	0	0	0	8965	652	23	1	1279	1	LPPR4	1	99771527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	99771527	149479094	840	11157											
AGL	178	broad.mit.edu	37	chr1	100329978	100329978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccccattgcagactcTtggactatctaggtcatgct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100329978T>G	ENST00000294724.4	+	5	975	c.497T>G	c.(496-498)cTt>cGt	p.L166R	AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	166					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCAGACTCTTGGACTATCT	0.378																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(496-498)cTt>cGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							153	151	152					1																	100329978		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100329978T>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.497T>G	1.37:g.100329978T>G	ENSP00000294724:p.Leu166Arg					AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R	p.L166R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	5	975	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	166					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.497T>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520963	0.85495	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.47	5.47	0.80525	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86694	0.5994	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.84330	0.0521	10	0.17832	T	0.49	.	15.5552	0.76187	0.0:0.0:0.0:1.0	.	149;150;166	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	166;166;166;166;150;150;149	ENSP00000355106:L166R;ENSP00000359184:L166R;ENSP00000359182:L166R;ENSP00000294724:L166R;ENSP00000354971:L150R;ENSP00000359180:L150R;ENSP00000354635:L149R	ENSP00000294724:L166R	L	+	2	0	AGL	100102566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.078000	0.62432	0.460000	0.39030	CTT		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		10	519	0	0	0	1	0	10	519					G	100329978	T	G	100329978	3	3	79	1	0	0	0	0	1	0	0	0	384	1609	56	4	580	4	AGL	1	100329978	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	558451	100329978	148920643	841	11158											
AGL	178	broad.mit.edu	37	chr1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaactattgagagaaacaCgaaaccttataggaaggatg	10	5	0	3	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	786					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2356-2358)aCg>aTg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102	110	107		2357,2357,2357,2357,2306,2309	2.9	0	1	dbSNP_134	107	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	81,81,81,81,81,81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	786/1533,786/1533,786/1533,786/1533,769/1516,770/1517	100349724	1,13001	2203	4298	6501	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100349724C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2357C>T	1.37:g.100349724C>T	ENSP00000294724:p.Thr786Met					AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M	p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	18	2835	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	786					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2357C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247814	0.10130	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.8	2.91	0.33838	.	0.294418	0.40064	N	0.001190	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.31274	0.317;0.317;0.212	B;B;B	0.36989	0.238;0.238;0.12	T	0.13019	-1.0525	10	0.46703	T	0.11	.	10.9457	0.47299	0.0:0.7394:0.0:0.2606	.	769;770;786	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	786;786;786;786;770;770;769	ENSP00000355106:T786M;ENSP00000359184:T786M;ENSP00000359182:T786M;ENSP00000294724:T786M;ENSP00000354971:T770M;ENSP00000359180:T770M;ENSP00000354635:T769M	ENSP00000294724:T786M	T	+	2	0	AGL	100122312	0.001000	0.12720	0.014000	0.15608	0.097000	0.18754	0.478000	0.22212	0.788000	0.33755	-0.143000	0.13931	ACG		0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		20	216	0	0	0	1	0	20	216					T	100349724	C	T	100349724	3	4	79	1	0	0	0	0	1	0	0	0	384	536	19	1	2492	1	AGL	1	100349724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19746	100349724	148900897	842	11159											
AGL	178	broad.mit.edu	37	chr1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtaaccggcttatttcacGatcaggaactattgctgaag	9	9	2	1	rs147977213	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	977					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		18919	0.002		0.0	False		,,,				2504	0.0					ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2929-2931)cGa>cAa		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							105	108	107					1																	100356893		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100356893G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2930G>A	1.37:g.100356893G>A	ENSP00000294724:p.Arg977Gln					AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q	p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	22	3408	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	977					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2930G>A	CCDS759.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.44	3.624360	0.66901	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.38838	1.175	0.80722	D	1	P;P;P	0.42649	0.786;0.786;0.681	B;B;B	0.39660	0.306;0.306;0.161	T	0.57505	-0.7800	10	0.13853	T	0.58	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	960;961;977	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	977;977;977;977;961;961;960	ENSP00000355106:R977Q;ENSP00000359184:R977Q;ENSP00000359182:R977Q;ENSP00000294724:R977Q;ENSP00000354971:R961Q;ENSP00000359180:R961Q;ENSP00000354635:R960Q	ENSP00000294724:R977Q	R	+	2	0	AGL	100129481	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.025000	0.49681	2.703000	0.92315	0.579000	0.79373	CGA		0.323	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		78	302	0	0	0	1	0	78	302					A	100356893	G	A	100356893	3	1	79	1	0	0	0	0	1	0	0	0	384	1058	37	1	3081	1	AGL	1	100356893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7169	100356893	148893728	843	11160											
SLC35A3	23443	broad.mit.edu	37	chr1	100464905	100464905	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaacttgctattccatcaggGatctatactcttcagaataa	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000370155.3	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000370156.3_3'UTR|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000465289.1_Silent_p.G92G	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	92					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTCCATCAGGGATCTATACTC	0.299																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(274-276)ggG>ggT		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							69	72	71					1																	100464905		2202	4279	6481	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100464905G>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.276G>T	1.37:g.100464905G>T						SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000370155.3_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Silent_p.G92G	p.G92G	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	3	668	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	92					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.276G>T	CCDS762.1																																																																																				0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		24	263	1	0	4.4004e-07	1	4.55749e-07	24	263					T	100464905	G	T	100464905	2	4	79	1	0	0	0	0	0	0	0	1	14622	1161	41	3		3	SLC35A3	1	100464905	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108012	100464905	148785716	844	11161											
SLC35A3	23443	broad.mit.edu	37	chr1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaggagttgcttttgtaCaggtaactattcaagataag	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000370155.3	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000465289.1_Nonsense_Mutation_p.Q155*	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	155					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(463-465)Cag>Tag		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							97	102	100					1																	100472710		2203	4300	6503	SO:0001587	stop_gained	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100472710C>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.463C>T	1.37:g.100472710C>T	ENSP00000359174:p.Gln155*					SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000370155.3_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	4	855	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	155					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Nonsense_Mutation	SNP	ENST00000370155.3	37	c.463C>T	CCDS762.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147607	0.97324	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9071	18.1433	0.89647	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;155;197;155	.	ENSP00000359172:Q197X	Q	+	1	0	SLC35A3	100245298	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.487000	0.81328	2.292000	0.77174	0.655000	0.94253	CAG		0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		22	253	0	0	0	1	0	22	253					T	100472710	C	T	100472710	4	4	79	1	0	0	0	0	0	1	0	0	14622	479	17	2	473	2	SLC35A3	1	100472710	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7805	100472710	148777911	845	11162											
HIAT1	64645	broad.mit.edu	37	chr1	100546193	100546193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttgggaacaaacacaaGccctcagcaccactttgaac	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100546193G>A	ENST00000370152.3	+	11	1380	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	415					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAAACACAAGCCCTCAGCAC	0.408																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(1243-1245)aGc>aAc		hippocampus abundant transcript 1							172	169	170					1																	100546193		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100546193G>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1244G>A	1.37:g.100546193G>A	ENSP00000359171:p.Ser415Asn					RP4-714D9.2_ENST00000432294.1_RNA	p.S415N	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	11	1380	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	415					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.1244G>A	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.902999	0.17760	.	.	ENSG00000156875	ENST00000370152	T	0.80909	-1.43	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.796683	0.11231	N	0.585655	T	0.34279	0.0892	N	0.01576	-0.805	0.21220	N	0.999753	B	0.02656	0.0	B	0.04013	0.001	T	0.13388	-1.0511	10	0.11794	T	0.64	-9.2588	11.0974	0.48152	0.0:0.1286:0.7219:0.1495	.	415	Q96MC6	HIAT1_HUMAN	N	415	ENSP00000359171:S415N	ENSP00000359171:S415N	S	+	2	0	HIAT1	100318781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.722000	0.38042	2.534000	0.85438	0.555000	0.69702	AGC		0.408	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		24	678	0	0	0	1	0	24	678					A	100546193	G	A	100546193	3	1	79	1	0	0	0	0	1	0	0	0	7127	971	34	2	1286	2	HIAT1	1	100546193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73483	100546193	148704428	846	11163											
LRRC39	127495	broad.mit.edu	37	chr1	100624921	100624921	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaccagttctatgAagttgccattcctgtagttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370137.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370138.1_Silent_p.L90L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(268-270)ctT>ctG		leucine rich repeat containing 39							104	104	104					1																	100624921		2203	4300	6503	SO:0001819	synonymous_variant	127495							g.chr1:100624921A>C	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.270T>G	1.37:g.100624921A>C						LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370137.1_Silent_p.L90L	p.L90L	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	5	468	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	90					B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	c.270T>G	CCDS766.1																																																																																				0.353	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		77	323	0	0	0	1	0	77	323					C	100624921	A	C	100624921	2	2	79	1	0	0	0	0	0	0	0	1	9033	233	9	4		4	LRRC39	1	100624921	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78728	100624921	148625700	847	11164											
CDC14A	8556	broad.mit.edu	37	chr1	100963751	100963751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctttgtcttcgggtgCcactgtaagaaggtaatttt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	ENST00000336454.3	+	14	1764	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	470					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTCGGGTGCCACTGTAAGA	0.468																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1408-1410)gCc>gTc		cell division cycle 14A							149	139	142					1																	100963751		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100963751C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1409C>T	1.37:g.100963751C>T	ENSP00000336739:p.Ala470Val					CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V	p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	14	1764	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	470					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1409C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605482	0.14002	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10668	2.85;2.85;3.07;2.89	5.23	3.36	0.38483	.	0.679120	0.15124	N	0.279214	T	0.02380	0.0073	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.0;0.001;0.004	T	0.44421	-0.9329	10	0.24483	T	0.36	0.0399	10.4088	0.44280	0.0:0.8468:0.0:0.1532	.	412;470;470;470	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	V	412;470;470;470	ENSP00000442640:A412V;ENSP00000354916:A470V;ENSP00000336739:A470V;ENSP00000442543:A470V	ENSP00000336739:A470V	A	+	2	0	CDC14A	100736339	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.762000	0.47597	0.697000	0.31718	0.655000	0.94253	GCC		0.468	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		38	510	0	0	0	1	0	38	510					T	100963751	C	T	100963751	3	4	79	1	0	0	0	0	1	0	0	0	3065	739	26	2	1478	2	CDC14A	1	100963751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338830	100963751	148286870	848	11165											
CDC14A	8556	broad.mit.edu	37	chr1	100964692	100964692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagcagcaacagcaaCgggggcaacctgaacagccc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000544534.1_Silent_p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	543					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1627-1629)aaC>aaT		cell division cycle 14A							84	88	87					1																	100964692		2203	4300	6503	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964692C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1629C>T	1.37:g.100964692C>T						CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N	p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	1984	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	543					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.1629C>T	CCDS769.1																																																																																				0.562	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		39	295	0	0	0	1	0	39	295					T	100964692	C	T	100964692	2	4	79	1	0	0	0	0	0	0	0	1	3065	535	19	1		1	CDC14A	1	100964692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941	100964692	148285929	849	11166											
VCAM1	7412	broad.mit.edu	37	chr1	101190358	101190358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactctcaccttaattgcTatgaggatggaagattctgg	10	8	2	2	rs201887131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000347652.2_Silent_p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	280	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(838-840)gcT>gcC		vascular cell adhesion molecule 1	Carvedilol(DB01136)						94	91	92					1																	101190358		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190358T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.840T>C	1.37:g.101190358T>C						VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A	p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	941	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	280			Ig-like C2-type 3.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.840T>C	CCDS773.1																																																																																				0.393	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		21	224	0	0	0	1	0	21	224					C	101190358	T	C	101190358	2	2	79	1	0	0	0	0	0	0	0	1	17191	1509	53	4		4	VCAM1	1	101190358	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225666	101190358	148060263	850	11167											
VCAM1	7412	broad.mit.edu	37	chr1	101194700	101194700	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatctcccctggaccccgGattgctgctcagattggaga	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	ENST00000294728.2	+	5	1067	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_ENST00000370119.4_Silent_p.R260R|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	322	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(964-966)cgG>cgA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						108	113	111					1																	101194700		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194700G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.966G>A	1.37:g.101194700G>A						VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R	p.R322R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1067	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	322			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.966G>A	CCDS773.1																																																																																				0.448	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	513	0	0	0	1	0	19	513					A	101194700	G	A	101194700	2	1	79	1	0	0	0	0	0	0	0	1	17191	1161	41	2		2	VCAM1	1	101194700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4342	101194700	148055921	851	11168											
EXTL2	2135	broad.mit.edu	37	chr1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaacaaggtctggggtgCtgatgagtgtgtcatcatct	12	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I|EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	156					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTCTGGGGTGCTGATGAGTGT	0.358																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(466-468)aGc>aTc		exostosin-like glycosyltransferase 2							148	136	140					1																	101342387		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101342387C>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.467G>T	1.37:g.101342387C>A	ENSP00000359132:p.Ser156Ile					EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I|EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I	p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	4	1903	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	156					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.467G>T	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351157	0.82132	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88495	0.3078	10	0.51188	T	0.08	-29.5482	20.1572	0.98116	0.0:1.0:0.0:0.0	.	155;156	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	156;156;143;164	ENSP00000359132:S156I;ENSP00000359131:S156I;ENSP00000444385:S143I;ENSP00000403363:S164I	ENSP00000359131:S156I	S	-	2	0	EXTL2	101114975	1.000000	0.71417	0.977000	0.42913	0.534000	0.34807	7.388000	0.79795	2.762000	0.94881	0.650000	0.86243	AGC		0.358	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		60	283	1	0	7.1157e-29	1	8.29994e-29	60	283					A	101342387	C	A	101342387	3	1	79	1	0	0	0	0	1	0	0	0	5344	797	28	3	533	3	EXTL2	1	101342387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147687	101342387	147908234	852	11169											
EXTL2	2135	broad.mit.edu	37	chr1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcagatttggtacaGcctgataatgatttaaaagt	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D|EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	88					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATTTGGTACAGCCTGATAATG	0.418																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(262-264)gCt>gAt		exostosin-like glycosyltransferase 2							139	139	139					1																	101343202		2203	4300	6503	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343202G>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.263C>A	1.37:g.101343202G>T	ENSP00000359132:p.Ala88Asp					EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D|EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D	p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	1699	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	88					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.263C>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959892	0.92791	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	D	0.85227	0.1030	10	0.54805	T	0.06	-22.5163	20.0018	0.97417	0.0:0.0:1.0:0.0	.	88;88	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	D	88;88;75;96;75	ENSP00000359132:A88D;ENSP00000359131:A88D;ENSP00000444385:A75D;ENSP00000403363:A96D;ENSP00000392255:A75D	ENSP00000359131:A88D	A	-	2	0	EXTL2	101115790	1.000000	0.71417	0.963000	0.40424	0.825000	0.46686	6.182000	0.71995	2.793000	0.96121	0.655000	0.94253	GCT		0.418	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		49	380	1	0	7.05377e-20	1	7.88546e-20	49	380					T	101343202	G	T	101343202	3	4	79	1	0	0	0	0	1	0	0	0	5344	971	34	3	741	3	EXTL2	1	101343202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815	101343202	147907419	853	11170											
SLC30A7	148867	broad.mit.edu	37	chr1	101377772	101377772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttcaaacatggaggTcatggacattctcatggctc	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	163	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		AACATGGAGGTCATGGACATT	0.378																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(487-489)ggT>ggC		solute carrier family 30 (zinc transporter), member 7							227	213	218					1																	101377772		2203	4300	6503	SO:0001819	synonymous_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377772T>C	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.489T>C	1.37:g.101377772T>C						SLC30A7_ENST00000357650.4_Silent_p.G163G	p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	676	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	163			His-rich loop.		B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	c.489T>C	CCDS776.1																																																																																				0.378	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		114	765	0	0	0	1	0	114	765					C	101377772	T	C	101377772	2	2	79	1	0	0	0	0	0	0	0	1	14610	1654	58	4		4	SLC30A7	1	101377772	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34570	101377772	147872849	854	11171											
DPH5	51611	broad.mit.edu	37	chr1	101456141	101456141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaattttctggtcgtcGgctccaaccctggctaagcc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448																																						ENST00000593496.1																			0											c.(133-135)tcG>tcA									93	91	92					1																	101456141		1972	4145	6117	SO:0001819	synonymous_variant	0							g.chr1:101456141G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.681C>T	1.37:g.101456141G>A						DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000370109.3_Silent_p.A227A	p.S45S							1	381	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.135G>A	CCDS41358.1																																																																																				0.448	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		53	229	0	0	0	1	0	53	229					A	101456141	G	A	101456141	2	1	79	1	0	0	0	0	0	0	0	1	4739	1103	39	1		1	DPH5	1	101456141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78369	101456141	147794480	855	11172											
S1PR1	1901	broad.mit.edu	37	chr1	101705127	101705127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctccaccgtgctgcCgctctaccacaagcactata	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101705127C>T	ENST00000305352.6	+	2	962	c.587C>T	c.(586-588)cCg>cTg	p.P196L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	196					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCGTGCTGCCGCTCTACCAC	0.562											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(586-588)cCg>cTg		sphingosine-1-phosphate receptor 1							136	125	129					1																	101705127		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705127C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.587C>T	1.37:g.101705127C>T	ENSP00000305416:p.Pro196Leu		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.P196L	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	962	+			196					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.587C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676308	0.88445	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.39229	1.09	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67288	-0.5708	10	0.87932	D	0	.	18.9864	0.92771	0.0:1.0:0.0:0.0	.	196	P21453	S1PR1_HUMAN	L	196	ENSP00000305416:P196L	ENSP00000305416:P196L	P	+	2	0	S1PR1	101477715	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.476000	0.83614	0.455000	0.32223	CCG		0.562	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		53	436	0	0	0	1	0	53	436					T	101705127	C	T	101705127	3	4	79	1	0	0	0	0	1	0	0	0	13843	652	23	1	589	1	S1PR1	1	101705127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248986	101705127	147545494	856	11173											
COL11A1	1301	broad.mit.edu	37	chr1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatttgatcccaggaagCgaagtgctttgtcataactt	8	9	2	1	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000370096.3	-	66	5510	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1733	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1745P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCAGGAAGCGAAGTGCTTT	0.433																																						ENST00000358392.2																			1	Substitution - Missense(1)	p.R1745P(1)	stomach(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(5233-5235)cGc>cAc		collagen, type XI, alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406	4.2+/-10.8	0,0,2203	167	150	156		4850,5234,5198,5081	5.5	1	1	dbSNP_134	156	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	COL11A1	NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1	29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign	1617/1691,1745/1819,1733/1807,1694/1768	103345315	3,13003	2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345315C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5198G>A	1.37:g.103345315C>T	ENSP00000359114:p.Arg1733His					COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1733H	p.R1745H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5551	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1733			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5234G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325201	0.81580	0.0	3.49E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.057950	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64567	1.98	0.58432	D	0.999994	B;B;B;B;B	0.25719	0.132;0.108;0.108;0.132;0.025	B;B;B;B;B	0.22386	0.039;0.023;0.023;0.039;0.011	T	0.65245	-0.6215	10	0.51188	T	0.08	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	1617;1694;1745;1733;953	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1733;1745;1694;953;1617	ENSP00000359114:R1733H;ENSP00000351163:R1745H;ENSP00000302551:R1694H;ENSP00000426533:R1617H	ENSP00000302551:R1694H	R	-	2	0	COL11A1	103117903	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	6.009000	0.70745	2.747000	0.94245	0.591000	0.81541	CGC		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	341	0	0	0	1	0	27	341					T	103345315	C	T	103345315	3	4	79	1	0	0	0	0	1	0	0	0	3676	768	27	1	230	1	COL11A1	1	103345315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1640188	103345315	145905306	857	11174											
COL11A1	1301	broad.mit.edu	37	chr1	103496747	103496747	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggactataatgctcacaGtagtcatatgctgccttggg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	ENST00000370096.3	-	5	1017	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	235	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATGCTCACAGTAGTCATATG	0.453																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(703-705)taC>taA		collagen, type XI, alpha 1							104	92	97					1																	103496747		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496747G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.705C>A	1.37:g.103496747G>T	ENSP00000359114:p.Tyr235*					COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Y235*	p.Y235*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1022	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	235			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.705C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	38	6.717392	0.97784	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	.	.	.	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.568	0.33552	0.1728:0.0:0.8272:0.0	.	.	.	.	X	235;235;235;235;235;162	.	ENSP00000302551:Y235X	Y	-	3	2	COL11A1	103269335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.964000	0.70379	2.631000	0.89168	0.551000	0.68910	TAC		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		34	137	1	0	1.07637e-12	1	1.15814e-12	34	137					T	103496747	G	T	103496747	4	4	79	1	0	0	0	0	0	1	0	0	3676	1024	36	3	5124	3	COL11A1	1	103496747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151432	103496747	145753874	858	11175											
COL11A1	1301	broad.mit.edu	37	chr1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgatctcccaacctcaAcaccaatttgctgaatacca	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000370096.3	-	3	698	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAACCTCAACACCAATTTG	0.393																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(385-387)gTt>gGt		collagen, type XI, alpha 1							75	79	78					1																	103544316		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544316A>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.386T>G	1.37:g.103544316A>C	ENSP00000359114:p.Val129Gly					COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000370096.3_Missense_Mutation_p.V129G	p.V129G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	703	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	129			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.386T>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684905	0.68157	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.86573	2.825	0.80722	D	1	P;D;D;D	0.58970	0.815;0.98;0.98;0.984	P;P;P;P	0.54815	0.583;0.649;0.649;0.761	T	0.00942	-1.1506	10	0.87932	D	0	.	15.6579	0.77158	1.0:0.0:0.0:0.0	.	129;129;129;129	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	129;129;129;129;129;56	ENSP00000359114:V129G;ENSP00000351163:V129G;ENSP00000302551:V129G;ENSP00000426533:V129G;ENSP00000408640:V129G;ENSP00000410177:V56G	ENSP00000302551:V129G	V	-	2	0	COL11A1	103316904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.107000	0.64212	0.533000	0.62120	GTT		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		49	195	0	0	0	1	0	49	195					C	103544316	A	C	103544316	3	2	79	1	0	0	0	0	1	0	0	0	3676	43	2	4	5451	4	COL11A1	1	103544316	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47569	103544316	145706305	859	11176											
AMY2A	279	broad.mit.edu	37	chr1	104160181	104160181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgatgggttgatattgCtcttgaatgtgagcgatatt	13	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:104160181C>T	ENST00000414303.2	+	1	183	c.119C>T	c.(118-120)gCt>gTt	p.A40V		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	40					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GTTGATATTGCTCTTGAATGT	0.438																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(118-120)gCt>gTt		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						232	193	206					1																	104160181		2201	4279	6480	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160181C>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.119C>T	1.37:g.104160181C>T	ENSP00000397582:p.Ala40Val						p.A40V	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	183	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	40					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.119C>T	CCDS783.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039061	0.75617	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91673	0.5352	9	0.87932	D	0	.	14.5293	0.67912	0.0:1.0:0.0:0.0	.	40;40	B9EJG1;P04746	.;AMYP_HUMAN	V	40	.	ENSP00000377509:A40V	A	+	2	0	AMY2A	103961704	1.000000	0.71417	0.990000	0.47175	0.742000	0.42306	7.069000	0.76755	1.784000	0.52394	0.455000	0.32223	GCT		0.438	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		21	730	0	0	0	1	0	21	730					T	104160181	C	T	104160181	3	4	79	1	0	0	0	0	1	0	0	0	594	797	28	2	121	2	AMY2A	1	104160181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	615865	104160181	145090440	860	11177											
PRMT6	55170	broad.mit.edu	37	chr1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggcgcgggcaccggcattCtgagcatcttctgtgcccag	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000370078.1	+	1	323	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	96	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(109-111)Ctg>Atg		protein arginine methyltransferase 6							30	37	35					1																	107599623		1992	4149	6141	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599623C>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.286C>A	1.37:g.107599623C>A	ENSP00000359095:p.Leu96Met					PRMT6_ENST00000370078.1_Missense_Mutation_p.L96M	p.L37M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	357	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	96					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.109C>A	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363843	0.24684	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.63580	-0.05;-0.05	5.11	4.2	0.49525	.	0.000000	0.64402	D	0.000006	T	0.70736	0.3258	M	0.82630	2.6	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.65697	-0.6105	10	0.66056	D	0.02	-18.3037	11.3452	0.49556	0.0:0.9125:0.0:0.0875	.	96	Q96LA8	ANM6_HUMAN	M	37;96	ENSP00000355145:L37M;ENSP00000359095:L96M	ENSP00000355145:L37M	L	+	1	2	PRMT6	107401146	0.703000	0.27826	0.025000	0.17156	0.002000	0.02628	1.276000	0.33156	1.377000	0.46286	0.544000	0.68410	CTG		0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		63	201	1	0	3.00063e-23	1	3.40875e-23	63	201					A	107599623	C	A	107599623	3	1	79	1	0	0	0	0	1	0	0	0	12587	912	32	3	288	3	PRMT6	1	107599623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3439442	107599623	141650998	861	11178											
NTNG1	22854	broad.mit.edu	37	chr1	107973466	107973466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacaacactagagggcaGcactgtgagttatgcaggct	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	394	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443																																						ENST00000370068.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1180-1182)caG>caA		netrin G1							122	107	111					1																	107973466		1568	3582	5150	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107973466G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1182G>A	1.37:g.107973466G>A						NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron	p.Q394Q			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	2028	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	394			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1182G>A	CCDS44180.1																																																																																				0.443	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		13	133	0	0	0	1	0	13	133					A	107973466	G	A	107973466	2	1	79	1	0	0	0	0	0	0	0	1	10746	962	34	2		2	NTNG1	1	107973466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373843	107973466	141277155	862	11179											
SLC25A24	29957	broad.mit.edu	37	chr1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcctggcccagagggaTgcccaggttcctgagcccct	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCAGAGGGATGCCCAGGTTC	0.721																																						ENST00000565488.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(157-159)Atc>Gtc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							16	21	19					1																	108742604		1991	4137	6128	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108742604T>C	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.157A>G	1.37:g.108742604T>C	ENSP00000457733:p.Ile53Val					RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	1	376	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	53			EF-hand 1.		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.157A>G	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468702	0.12461	.	.	ENSG00000085491	ENST00000264128	T	0.70986	-0.53	4.65	-4.12	0.03916	EF-hand-like domain (1);	0.297147	0.35739	N	0.003005	T	0.16769	0.0403	N	0.05510	-0.035	0.37003	D	0.895344	B	0.02656	0.0	B	0.04013	0.001	T	0.02498	-1.1150	10	0.10902	T	0.67	-3.313	3.5207	0.07741	0.3651:0.2173:0.0:0.4176	.	53	Q6NUK1	SCMC1_HUMAN	V	53	ENSP00000264128:I53V	ENSP00000264128:I53V	I	-	1	0	SLC25A24	108544127	0.987000	0.35691	0.827000	0.32855	0.003000	0.03518	-0.083000	0.11286	-0.563000	0.06078	-0.714000	0.03626	ATC		0.721	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		10	78	0	0	0	1	0	10	78					C	108742604	T	C	108742604	3	2	79	1	0	0	0	0	1	0	0	0	14537	1464	51	4	1446	4	SLC25A24	1	108742604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	769138	108742604	140508017	863	11180											
PRPF38B	55119	broad.mit.edu	37	chr1	109235385	109235385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgagaagaccatgaacCtcaaccccatgatcctgacc	7	15	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109235385C>A	ENST00000370025.4	+	1	441	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCATGAACCTCAACCCCAT	0.597																																						ENST00000370025.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(172-174)Ctc>Atc		pre-mRNA processing factor 38B							127	89	102					1																	109235385		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109235385C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.172C>A	1.37:g.109235385C>A	ENSP00000359042:p.Leu58Ile					PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I	p.L58I	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	1	441	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	58					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.172C>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237343	0.79800	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.71	0.32032	.	0.118753	0.64402	D	0.000017	T	0.55593	0.1930	M	0.77103	2.36	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.55211	-0.8176	9	0.31617	T	0.26	.	9.7049	0.40209	0.2528:0.6814:0.0:0.0658	.	58	Q5VTL8	PR38B_HUMAN	I	58	.	ENSP00000359039:L58I	L	+	1	0	PRPF38B	109036908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.724000	0.61972	0.304000	0.22809	0.462000	0.41574	CTC		0.597	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		9	427	1	0	0.000274275	1	0.000278163	9	427					A	109235385	C	A	109235385	3	1	79	1	0	0	0	0	1	0	0	0	12615	681	24	3	174	3	PRPF38B	1	109235385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492781	109235385	140015236	864	11181											
PRPF38B	55119	broad.mit.edu	37	chr1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttaggtctccaaggagatCtctgagtccacggaggtccc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370025.4	+	6	1066	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S155Y	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	266	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCAAGGAGATCTCTGAGTCCA	0.408																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(463-465)tCt>tAt		pre-mRNA processing factor 38B							56	61	59					1																	109241798		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241798C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.797C>A	1.37:g.109241798C>A	ENSP00000359042:p.Ser266Tyr					PRPF38B_ENST00000370025.4_Missense_Mutation_p.S266Y	p.S155Y			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1101	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	266					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.464C>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552818	0.65425	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14516	4.11;2.5	5.39	5.39	0.77823	.	0.122294	0.56097	D	0.000029	T	0.15696	0.0378	L	0.29908	0.895	0.58432	D	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.01472	-1.1346	10	0.66056	D	0.02	.	19.5074	0.95125	0.0:1.0:0.0:0.0	.	266	Q5VTL8	PR38B_HUMAN	Y	266;155	ENSP00000359042:S266Y;ENSP00000359038:S155Y	ENSP00000359038:S155Y	S	+	2	0	PRPF38B	109043321	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.283000	0.65621	2.698000	0.92095	0.591000	0.81541	TCT		0.408	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		16	388	1	0	5.01169e-05	1	5.1097e-05	16	388					A	109241798	C	A	109241798	3	1	79	1	0	0	0	0	1	0	0	0	12615	913	32	3	819	3	PRPF38B	1	109241798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6413	109241798	140008823	865	11182											
PRPF38B	55119	broad.mit.edu	37	chr1	109241961	109241961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacggcgaagatcccgaagTattgaccgggggttagaacg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370025.4	+	6	1229	c.960T>C	c.(958-960)agT>agC	p.S320S	PRPF38B_ENST00000370021.1_Silent_p.S209S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	320	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(625-627)agT>agC		pre-mRNA processing factor 38B							88	88	88					1																	109241961		2203	4300	6503	SO:0001819	synonymous_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241961T>C	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.960T>C	1.37:g.109241961T>C						PRPF38B_ENST00000370025.4_Silent_p.S320S	p.S209S			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1264	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	320					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	c.627T>C	CCDS788.1																																																																																				0.502	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		53	400	0	0	0	1	0	53	400					C	109241961	T	C	109241961	2	2	79	1	0	0	0	0	0	0	0	1	12615	1635	57	4		4	PRPF38B	1	109241961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163	109241961	140008660	866	11183											
AKNAD1	254268	broad.mit.edu	37	chr1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcccttttcgggttgaGttggtcagtgagttctgggg	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	172						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(514-516)Ctc>Ttc		AKNA domain containing 1							62	64	63					1																	109394773		2202	4295	6497	SO:0001583	missense	254268							g.chr1:109394773G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.514C>T	1.37:g.109394773G>A	ENSP00000359018:p.Leu172Phe					AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron	p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	782	-			172					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.514C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511189	0.44660	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09817	2.96;2.99;2.94	5.77	0.065	0.14355	.	0.955217	0.08711	N	0.904928	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.30326	0.276	B	0.30572	0.117	T	0.44205	-0.9343	10	0.31617	T	0.26	-0.2122	2.1848	0.03883	0.1509:0.3045:0.3494:0.1952	.	172	Q5T1N1	AKND1_HUMAN	F	172	ENSP00000359018:L172F;ENSP00000359011:L172F;ENSP00000359012:L172F	ENSP00000359011:L172F	L	-	1	0	AKNAD1	109196296	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-0.152000	0.10159	0.362000	0.24319	-0.878000	0.02970	CTC		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		119	419	0	0	0	1	0	119	419					A	109394773	G	A	109394773	3	1	79	1	0	0	0	0	1	0	0	0	464	1029	36	2	2056	2	AKNAD1	1	109394773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152812	109394773	139855848	867	11184											
GPSM2	29899	broad.mit.edu	37	chr1	109440714	109440715	+	Frame_Shift_Ins	INS	-	-	T													gctctgcaggcagccgtggaINStttttatgagtgagtagggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109440714_109440715insT	ENST00000406462.2	+	6	1321_1322	c.548_549insT	c.(547-552)gattttfs	p.DF183fs	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.DF183fs			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	183					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCAGCCGTGGATTTTTATGAGT	0.455																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(547-549)gttfs		G-protein signaling modulator 2																																				SO:0001589	frameshift_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109440714_109440715insT	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.553dupT	1.37:g.109440719_109440719dupT	ENSP00000385510:p.Asp183fs					AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.V183fs	p.V183fs			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	6	1321_1322	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	183					Q5T1N8|Q6IBL7|Q8N0Z5	Frame_Shift_Ins	INS	ENST00000406462.2	37	c.548_549insT	CCDS792.2																																																																																				0.455	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		37	414						37	414	---	---	---	---	T	109440715	-	T	109440714	7	5	79	1	0	1	1	0	0	0	0	0	6765	333	12	0	562	0	GPSM2	1	109440714	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	45941	109440714	139809907	868	11185											
WDR47	22911	broad.mit.edu	37	chr1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagaggtggcttaatgAccgaatgttctgaagagctg	12	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000369962.3	-	9	1931	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A	WDR47_ENST00000400794.3_Missense_Mutation_p.V578A|WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A			O94967	WDR47_HUMAN	WD repeat domain 47	570					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGGCTTAATGACCGAATGTTC	0.368																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1624-1626)gTc>gCc		WD repeat domain 47							101	112	108					1																	109533934		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109533934A>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1709T>C	1.37:g.109533934A>G	ENSP00000358979:p.Val570Ala					WDR47_ENST00000369962.3_Missense_Mutation_p.V570A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A	p.V542A			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	2000	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	570					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1625T>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145171	0.37825	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.51;0.55;0.5;0.5;0.5	5.23	5.23	0.72850	.	0.481828	0.20274	N	0.095616	T	0.16514	0.0397	N	0.17082	0.46	0.35252	D	0.778798	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.04509	-1.0946	10	0.08381	T	0.77	-2.5593	12.8407	0.57800	1.0:0.0:0.0:0.0	.	542;578;570;571	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	578;570;542;571;542	ENSP00000383599:V578A;ENSP00000358979:V570A;ENSP00000354339:V542A;ENSP00000358982:V571A;ENSP00000350301:V542A	ENSP00000350301:V542A	V	-	2	0	WDR47	109335457	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.113000	0.64589	0.524000	0.50904	GTC		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		30	316	0	0	0	1	0	30	316					G	109533934	A	G	109533934	3	3	79	1	0	0	0	0	1	0	0	0	17354	275	10	4	1078	4	WDR47	1	109533934	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93220	109533934	139716687	869	11186											
WDR47	22911	broad.mit.edu	37	chr1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgaaactgaactctggCccaagatttcactgccgata	7	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000369962.3	-	6	1400	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	WDR47_ENST00000400794.3_Missense_Mutation_p.G401D|WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D			O94967	WDR47_HUMAN	WD repeat domain 47	393					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAACTCTGGCCCAAGATTTC	0.423																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1093-1095)gGc>gAc		WD repeat domain 47							108	117	114					1																	109547290		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109547290C>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1178G>A	1.37:g.109547290C>T	ENSP00000358979:p.Gly393Asp					WDR47_ENST00000369962.3_Missense_Mutation_p.G393D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D	p.G365D			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	1469	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	393					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1094G>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114881	0.37339	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.54;0.5;0.5;0.5	5.58	4.48	0.54585	.	0.685635	0.15061	N	0.282753	T	0.17577	0.0422	N	0.08118	0	0.22280	N	0.999237	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.0;0.0;0.0	T	0.13737	-1.0498	10	0.51188	T	0.08	-25.4215	12.4039	0.55428	0.0:0.8018:0.1227:0.0756	.	365;401;393;394	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	401;393;365;394;365	ENSP00000383599:G401D;ENSP00000358979:G393D;ENSP00000354339:G365D;ENSP00000358982:G394D;ENSP00000350301:G365D	ENSP00000350301:G365D	G	-	2	0	WDR47	109348813	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.100000	0.41777	2.622000	0.88805	0.650000	0.86243	GGC		0.423	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		75	723	0	0	0	1	0	75	723					T	109547290	C	T	109547290	3	4	79	1	0	0	0	0	1	0	0	0	17354	739	26	2	1621	2	WDR47	1	109547290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13356	109547290	139703331	870	11187											
WDR47	22911	broad.mit.edu	37	chr1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaccatgacacaagcCtcttcaaaacagtgaactcg	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000369962.3	-	5	723	c.501G>T	c.(499-501)gaG>gaT	p.E167D	WDR47_ENST00000400794.3_Missense_Mutation_p.E174D|WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D			O94967	WDR47_HUMAN	WD repeat domain 47	167					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACACAAGCCTCTTCAAAAC	0.433																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(415-417)gaG>gaT		WD repeat domain 47							207	210	209					1																	109554167		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554167C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.501G>T	1.37:g.109554167C>A	ENSP00000358979:p.Glu167Asp					WDR47_ENST00000369962.3_Missense_Mutation_p.E167D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D	p.E139D			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	792	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	167					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.417G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140674	0.56936	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772	T;T;T;T;T	0.58652	0.32;0.37;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.42686	1.345	0.58432	D	0.999996	D;D;D;D	0.69078	0.99;0.997;0.997;0.99	D;D;D;D	0.73380	0.98;0.978;0.978;0.98	T	0.60576	-0.7236	10	0.45353	T	0.12	-5.7323	12.8243	0.57710	0.0:0.9149:0.0:0.0851	.	139;174;167;167	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	174;167;139;167;139;167	ENSP00000383599:E174D;ENSP00000358979:E167D;ENSP00000354339:E139D;ENSP00000358982:E167D;ENSP00000350301:E139D	ENSP00000350301:E139D	E	-	3	2	WDR47	109355690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.481000	0.83766	0.563000	0.77884	GAG		0.433	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		106	980	1	0	3.17287e-45	1	3.88899e-45	106	980					A	109554167	C	A	109554167	3	1	79	1	0	0	0	0	1	0	0	0	17354	680	24	3	2305	3	WDR47	1	109554167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6877	109554167	139696454	871	11188											
KIAA1324	57535	broad.mit.edu	37	chr1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccggggcgactacatcGcctccaacacggacgaatgc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	167					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGACTACATCGCCTCCAACAC	0.557																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(499-501)Gcc>Acc		KIAA1324							101	81	88					1																	109714519		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714519G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.499G>A	1.37:g.109714519G>A	ENSP00000358955:p.Ala167Thr					KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	p.A167T	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	682	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	167					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.499G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	4.897	0.166757	0.09339	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.44083	1.56;0.93;0.93;0.93	5.99	1.81	0.25067	.	0.348105	0.32533	N	0.005968	T	0.14270	0.0345	L	0.40543	1.245	0.23751	N	0.996942	B;B;B;B	0.20671	0.018;0.047;0.011;0.011	B;B;B;B	0.17433	0.006;0.018;0.009;0.009	T	0.30208	-0.9986	10	0.19147	T	0.46	-15.5327	14.3279	0.66532	0.0659:0.0:0.8093:0.1248	.	167;167;167;167	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	167	ENSP00000431349:A167T;ENSP00000358955:A167T;ENSP00000393964:A167T;ENSP00000434595:A167T	ENSP00000358955:A167T	A	+	1	0	KIAA1324	109516042	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	2.737000	0.47393	0.051000	0.15978	-0.127000	0.14921	GCC		0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		27	272	0	0	0	1	0	27	272					A	109714519	G	A	109714519	3	1	79	1	0	0	0	0	1	0	0	0	8253	1087	38	1	513	1	KIAA1324	1	109714519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160352	109714519	139536102	872	11189											
CELSR2	1952	broad.mit.edu	37	chr1	109793139	109793139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacggctcagatgccaGtcctgcaagctggcacaggc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	146					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)			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)		TCAGATGCCAGTCCTGCAAGC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(436-438)caG>caA		cadherin, EGF LAG seven-pass G-type receptor 2							42	51	48					1																	109793139		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:109793139G>A	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.438G>A	1.37:g.109793139G>A							p.Q146Q	NM_001408.2	NP_001399.1	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	499	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	146					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.438G>A	CCDS796.1																																																																																				0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		36	279	0	0	0	1	0	36	279					A	109793139	G	A	109793139	2	1	79	1	0	0	0	0	0	0	0	1	3231	1020	36	2		2	CELSR2	1	109793139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78620	109793139	139457482	873	11190											
CELSR2	1952	broad.mit.edu	37	chr1	109794810	109794810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattgtggtgaatgtcacCgacgccaacacccatcgtcc	9	14	1	2	rs199976988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	703	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		TGAATGTCACCGACGCCAACA	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22497	0.0		0.0	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(2107-2109)acC>acT		cadherin, EGF LAG seven-pass G-type receptor 2							84	77	79					1																	109794810		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:109794810C>T	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.2109C>T	1.37:g.109794810C>T							p.T703T	NM_001408.2	NP_001399.1	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	2170	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	703			Cadherin 5.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.2109C>T	CCDS796.1																																																																																				0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	281	0	0	0	1	0	34	281					T	109794810	C	T	109794810	2	4	79	1	0	0	0	0	0	0	0	1	3231	639	23	1		1	CELSR2	1	109794810	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1671	109794810	139455811	874	11191											
CELSR2	1952	broad.mit.edu	37	chr1	109795960	109795960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgaagctaagccgcGcactggacaacaaccggcct	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109795960G>A	ENST00000271332.3	+	1	3320	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1087	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		GCTAAGCCGCGCACTGGACAA	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(3259-3261)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 2							42	40	41					1																	109795960		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.chr1:109795960G>A	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.3259G>A	1.37:g.109795960G>A	ENSP00000271332:p.Ala1087Thr						p.A1087T	NM_001408.2	NP_001399.1	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	3320	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1087			Cadherin 9.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3259G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.26	2.185244	0.38609	.	.	ENSG00000143126	ENST00000271332	T	0.50548	0.74	4.92	4.92	0.64577	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41673	0.1169	L	0.49126	1.545	0.40781	D	0.983178	D	0.62365	0.991	P	0.55923	0.787	T	0.15607	-1.0431	9	0.15499	T	0.54	.	13.7493	0.62897	0.0764:0.0:0.9236:0.0	.	1087	Q9HCU4	CELR2_HUMAN	T	1087	ENSP00000271332:A1087T	ENSP00000271332:A1087T	A	+	1	0	CELSR2	109597483	0.976000	0.34144	0.994000	0.49952	0.978000	0.69477	5.340000	0.65958	2.561000	0.86390	0.650000	0.86243	GCA		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	225	0	0	0	1	0	6	225					A	109795960	G	A	109795960	3	1	79	1	0	0	0	0	1	0	0	0	3231	1087	38	1	3261	1	CELSR2	1	109795960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150	109795960	139454661	875	11192											
CELSR2	1952	broad.mit.edu	37	chr1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgaggatggccagtgtCcatgcaagccaggtgtcatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1944	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		TGGCCAGTGTCCATGCAAGCC	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(5830-5832)Cca>Tca		cadherin, EGF LAG seven-pass G-type receptor 2							67	61	63					1																	109808459		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.chr1:109808459C>T	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.5830C>T	1.37:g.109808459C>T	ENSP00000271332:p.Pro1944Ser						p.P1944S	NM_001408.2	NP_001399.1	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)	14	5891	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1944			Laminin EGF-like.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5830C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666778	0.47677	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.6	4.6	0.57074	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.23210	0.0561	L	0.27944	0.81	0.43426	D	0.995586	B	0.14012	0.009	B	0.19666	0.026	T	0.06303	-1.0834	9	0.07990	T	0.79	.	11.7701	0.51953	0.0:0.9136:0.0:0.0864	.	1944	Q9HCU4	CELR2_HUMAN	S	1944	ENSP00000271332:P1944S	ENSP00000271332:P1944S	P	+	1	0	CELSR2	109609982	0.772000	0.28567	0.997000	0.53966	0.984000	0.73092	5.881000	0.69706	2.387000	0.81309	0.462000	0.41574	CCA		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		52	177	0	0	0	1	0	52	177					T	109808459	C	T	109808459	3	4	79	1	0	0	0	0	1	0	0	0	3231	855	30	2	5884	2	CELSR2	1	109808459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12499	109808459	139442162	876	11193											
CELSR2	1952	broad.mit.edu	37	chr1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacacagccaacaagCggcactgggagctgatccag	12	13	0	1	rs374375242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2122					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)			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)		AGCCAACAAGCGGCACTGGGA	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(6364-6366)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	42	42	42		6364	4	1	1		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2122/2924	109811248	1,13005	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.chr1:109811248C>T	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.6364C>T	1.37:g.109811248C>T	ENSP00000271332:p.Arg2122Trp						p.R2122W	NM_001408.2	NP_001399.1	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)	18	6425	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2122					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6364C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620167	0.66787	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.09911	2.93	4.9	3.96	0.45880	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.35826	D	0.824974	D	0.76494	0.999	D	0.68765	0.96	T	0.07214	-1.0784	9	0.72032	D	0.01	.	11.3079	0.49347	0.1458:0.7219:0.1323:0.0	.	2122	Q9HCU4	CELR2_HUMAN	W	2122	ENSP00000271332:R2122W	ENSP00000271332:R2122W	R	+	1	2	CELSR2	109612771	0.770000	0.28543	1.000000	0.80357	0.995000	0.86356	0.632000	0.24583	1.248000	0.43934	0.561000	0.74099	CGG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		20	196	0	0	0	1	0	20	196					T	109811248	C	T	109811248	3	4	79	1	0	0	0	0	1	0	0	0	3231	759	27	1	6434	1	CELSR2	1	109811248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2789	109811248	139439373	877	11194											
CELSR2	1952	broad.mit.edu	37	chr1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgtcatcatctaccGcaccctggccgggctactgc	11	17	3	0	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2253					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)			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)		ATCATCTACCGCACCCTGGCC	0.672																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(6757-6759)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2		G	HIS/ARG	0,4406		0,0,2203	29	31	30		6758	3.7	1	1	dbSNP_134	30	11,8587		0,11,4288	yes	missense	CELSR2	NM_001408.2	29	0,11,6491	AA,AG,GG		0.1279,0.0,0.0846	benign	2253/2924	109811858	11,12993	2203	4299	6502	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.chr1:109811858G>A	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.6758G>A	1.37:g.109811858G>A	ENSP00000271332:p.Arg2253His						p.R2253H	NM_001408.2	NP_001399.1	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)	20	6819	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2253					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6758G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358225	0.41801	0.0	0.001279	ENSG00000143126	ENST00000271332	T	0.11821	2.74	4.63	3.7	0.42460	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.03390	0.0098	N	0.25201	0.72	0.29053	N	0.884409	B	0.26400	0.148	B	0.22753	0.041	T	0.38045	-0.9679	9	0.33940	T	0.23	.	11.5909	0.50945	0.0893:0.0:0.9107:0.0	.	2253	Q9HCU4	CELR2_HUMAN	H	2253	ENSP00000271332:R2253H	ENSP00000271332:R2253H	R	+	2	0	CELSR2	109613381	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.856000	0.55964	1.156000	0.42514	0.462000	0.41574	CGC		0.672	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		31	261	0	0	0	1	0	31	261					A	109811858	G	A	109811858	3	1	79	1	0	0	0	0	1	0	0	0	3231	1087	38	1	6836	1	CELSR2	1	109811858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	109811858	139438763	878	11195											
CELSR2	1952	broad.mit.edu	37	chr1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccagagtggctcctatgCctctacccactcatcagaca	7	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2735					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)			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)		GGCTCCTATGCCTCTACCCAC	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(8203-8205)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 2							54	59	58					1																	109815515		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.chr1:109815515C>T	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.8204C>T	1.37:g.109815515C>T	ENSP00000271332:p.Ala2735Val					CELSR2_ENST00000498157.1_3'UTR	p.A2735V	NM_001408.2	NP_001399.1	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)	31	8265	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2735					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8204C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577470	0.86645	.	.	ENSG00000143126	ENST00000271332	T	0.75154	-0.91	4.7	4.7	0.59300	.	.	.	.	.	T	0.77579	0.4151	M	0.67397	2.05	0.50632	D	0.999886	D	0.67145	0.996	P	0.57679	0.825	T	0.80723	-0.1255	9	0.72032	D	0.01	.	14.261	0.66085	0.0:0.8499:0.1501:0.0	.	2735	Q9HCU4	CELR2_HUMAN	V	2735	ENSP00000271332:A2735V	ENSP00000271332:A2735V	A	+	2	0	CELSR2	109617038	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.664000	0.46783	2.443000	0.82685	0.561000	0.74099	GCC		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		39	302	0	0	0	1	0	39	302					T	109815515	C	T	109815515	3	4	79	1	0	0	0	0	1	0	0	0	3231	739	26	2	8326	2	CELSR2	1	109815515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3657	109815515	139435106	879	11196											
SORT1	6272	broad.mit.edu	37	chr1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaacatacctgtttttccgGactcaaaaagttgcttgtgc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	747	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTTTTTCCGGACTCAAAAAG	0.373																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(2239-2241)Ccg>Tcg		sortilin 1							138	134	135					1																	109859483		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109859483G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2239C>T	1.37:g.109859483G>A	ENSP00000256637:p.Pro747Ser					SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	p.P747S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	17	2297	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	747			Interactions with LRPAP1 and NGFB.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.2239C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313533	0.40996	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.14266	2.52;2.55	5.65	4.7	0.59300	.	0.412269	0.26757	N	0.022655	T	0.02380	0.0073	N	0.12182	0.205	0.47276	D	0.999379	B;B	0.20261	0.019;0.043	B;B	0.11329	0.003;0.006	T	0.40001	-0.9586	10	0.20046	T	0.44	-5.7976	8.1127	0.30924	0.1928:0.0:0.8072:0.0	.	610;747	B4DWI3;Q99523	.;SORT_HUMAN	S	747;610	ENSP00000256637:P747S;ENSP00000438597:P610S	ENSP00000256637:P747S	P	-	1	0	SORT1	109661006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.323000	0.65858	1.295000	0.44724	-0.345000	0.07892	CCG		0.373	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		59	432	0	0	0	1	0	59	432					A	109859483	G	A	109859483	3	1	79	1	0	0	0	0	1	0	0	0	14985	1174	41	2	272	2	SORT1	1	109859483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43968	109859483	139391138	880	11197											
PSMA5	5686	broad.mit.edu	37	chr1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtctcattgtaggtgaaCcagtggttctagaagaagag	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468																																						ENST00000271308.4																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(298-300)tgG>tgA		proteasome (prosome, macropain) subunit, alpha type, 5							150	114	126					1																	109954798		2203	4300	6503	SO:0001587	stop_gained	5686				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109954798C>T	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.300G>A	1.37:g.109954798C>T	ENSP00000271308:p.Trp100*					PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*|PSMA5_ENST00000490870.1_5'UTR	p.W100*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	5	320	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	100					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Nonsense_Mutation	SNP	ENST00000271308.4	37	c.300G>A	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.020195	0.93462	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0842	18.9585	0.92670	0.0:1.0:0.0:0.0	.	.	.	.	X	42;100	.	.	W	-	3	0	PSMA5	109756321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	TGG		0.468	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		19	249	0	0	0	1	0	19	249					T	109954798	C	T	109954798	4	4	79	1	0	0	0	0	0	1	0	0	12717	508	18	2	445	2	PSMA5	1	109954798	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95315	109954798	139295823	881	11198											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacgtgctggtggcagagCtgaaggccaactcccgcaaa	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(853-855)Ctg>Atg		ataxin 7-like 2							41	44	43					1																	110031538		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110031538C>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.853C>A	1.37:g.110031538C>A	ENSP00000358886:p.Leu285Met						p.L285M	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	868	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	285			SCA7.			Missense_Mutation	SNP	ENST00000369870.3	37	c.853C>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286534	0.59867	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35421	1.31	5.72	4.82	0.62117	SCA7 domain (2);	0.000000	0.47093	D	0.000246	T	0.28928	0.0718	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	10	0.35671	T	0.21	-7.1685	8.7501	0.34611	0.0:0.8294:0.0:0.1706	.	285	Q5T6C5	AT7L2_HUMAN	M	285	ENSP00000358886:L285M	ENSP00000358886:L285M	L	+	1	2	ATXN7L2	109833061	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.513000	0.35823	1.424000	0.47217	0.561000	0.74099	CTG		0.627	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		16	330	1	0	1.37285e-15	1	1.50199e-15	16	330					A	110031538	C	A	110031538	3	1	79	1	0	0	0	0	1	0	0	0	1218	796	28	3	879	3	ATXN7L2	1	110031538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76740	110031538	139219083	882	11199											
GPR61	83873	broad.mit.edu	37	chr1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgatggccgtgatcGccaagacgcctgccctccga	12	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(202-204)Gcc>Acc		G protein-coupled receptor 61							173	160	165					1																	110085846		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085846G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.202G>A	1.37:g.110085846G>A	ENSP00000432456:p.Ala68Thr					RP5-1160K1.8_ENST00000526411.1_RNA	p.A68T	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	885	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	68					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.202G>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566256	0.27915	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36699	1.24	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.060511	0.64402	D	0.000003	T	0.12433	0.0302	L	0.31752	0.955	0.45806	D	0.998682	B	0.31599	0.33	B	0.24394	0.053	T	0.06427	-1.0827	10	0.46703	T	0.11	-8.7647	8.7371	0.34534	0.0806:0.1531:0.7663:0.0	.	68	Q9BZJ8	GPR61_HUMAN	T	68;196	ENSP00000432456:A68T	ENSP00000286603:A196T	A	+	1	0	GPR61	109887369	0.851000	0.29673	0.952000	0.39060	0.679000	0.39708	1.313000	0.33585	2.479000	0.83701	0.561000	0.74099	GCC		0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			140	562	0	0	0	1	0	140	562					A	110085846	G	A	110085846	3	1	79	1	0	0	0	0	1	0	0	0	6731	1087	38	1	204	1	GPR61	1	110085846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54308	110085846	139164775	883	11200											
GNAI3	2773	broad.mit.edu	37	chr1	110116530	110116530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaagaatcattcatgaGgatggctattcagaggatga	10	4	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	58					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(172-174)gaG>gaA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							98	95	96					1																	110116530		2203	4300	6503	SO:0001819	synonymous_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110116530G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.174G>A	1.37:g.110116530G>A							p.E58E	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	3	284	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	58					P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	c.174G>A	CCDS802.1																																																																																				0.348	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		49	203	0	0	0	1	0	49	203					A	110116530	G	A	110116530	2	1	79	1	0	0	0	0	0	0	0	1	6535	991	35	2		2	GNAI3	1	110116530	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30684	110116530	139134091	884	11201											
GSTM2	2946	broad.mit.edu	37	chr1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagctcctgattatgacaGaagccagtggctgaatgaaa	10	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000241337.4	+	3	178	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369831.2_Missense_Mutation_p.R43K|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	43	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GATTATGACAGAAGCCAGTGG	0.552																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(127-129)aGa>aAa		glutathione S-transferase mu 2 (muscle)							54	54	54					1																	110211562		2203	4300	6503	SO:0001583	missense	2946							g.chr1:110211562G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.128G>A	1.37:g.110211562G>A	ENSP00000241337:p.Arg43Lys					GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000241337.4_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K	p.R43K						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	222	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.128G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458687	0.26248	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	3.27	2.27	0.28462	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.286703	0.31660	N	0.007277	T	0.08626	0.0214	N	0.16602	0.42	0.24752	N	0.992977	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.25572	-1.0128	10	0.33141	T	0.24	.	4.9241	0.13885	0.3218:0.0:0.6782:0.0	.	43;43;43	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	43;41;43;43;43;43;43	ENSP00000416883:R43K;ENSP00000358842:R41K;ENSP00000358846:R43K;ENSP00000435910:R43K;ENSP00000435157:R43K;ENSP00000358844:R43K;ENSP00000241337:R43K	ENSP00000241337:R43K	R	+	2	0	GSTM2	110013085	0.919000	0.31177	1.000000	0.80357	0.908000	0.53690	0.480000	0.22244	0.616000	0.30141	0.454000	0.30748	AGA		0.552	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		66	236	0	0	0	1	0	66	236					A	110211562	G	A	110211562	3	1	79	1	0	0	0	0	1	0	0	0	6868	942	33	2	138	2	GSTM2	1	110211562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95032	110211562	139039059	885	11202											
EPS8L3	79574	broad.mit.edu	37	chr1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgggcaggtttggggCtggagggcctggagttgggg	23	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000361965.4	-	15	1440	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	EPS8L3_ENST00000369805.3_Missense_Mutation_p.S446N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	445						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1336-1338)aGc>aAc		EPS8-like 3							120	134	130					1																	110294717		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110294717C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1334G>A	1.37:g.110294717C>T	ENSP00000355255:p.Ser445Asn					RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S445N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N	p.S446N	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	15	1566	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	445					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.1337G>A	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612777	0.46631	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30182	1.54;1.54;1.54	5.49	0.0683	0.14369	Src homology-3 domain (1);	2.026650	0.01513	N	0.018038	T	0.14700	0.0355	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46142	0.804;0.704;0.873	B;B;P	0.47346	0.36;0.255;0.544	T	0.05500	-1.0881	10	0.22109	T	0.4	-2.3711	4.5838	0.12271	0.0:0.4336:0.3061:0.2603	.	415;445;446	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	N	415;446;445	ENSP00000354551:S415N;ENSP00000358820:S446N;ENSP00000355255:S445N	ENSP00000354551:S415N	S	-	2	0	EPS8L3	110096240	0.058000	0.20735	0.003000	0.11579	0.019000	0.09904	0.822000	0.27352	0.028000	0.15324	0.655000	0.94253	AGC		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		191	778	0	0	0	1	0	191	778					T	110294717	C	T	110294717	3	4	79	1	0	0	0	0	1	0	0	0	5215	797	28	2	467	2	EPS8L3	1	110294717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83155	110294717	138955904	886	11203											
CSF1	1435	broad.mit.edu	37	chr1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagtgccaagcagcggCcacccaggagcacctgccag	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(757-759)Cca>Tca		colony stimulating factor 1 (macrophage)							42	47	45					1																	110466000		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466000C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.757C>T	1.37:g.110466000C>T	ENSP00000327513:p.Pro253Ser		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S	p.P253S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1148	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	253					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.757C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	CSF1	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA		0.652	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		52	339	0	0	0	1	0	52	339					T	110466000	C	T	110466000	3	4	79	1	0	0	0	0	1	0	0	0	3942	739	26	2	779	2	CSF1	1	110466000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171283	110466000	138784621	887	11204											
AHCYL1	10768	broad.mit.edu	37	chr1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtaacatctactcaActcagaatgaagtagctgca	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	182					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(544-546)Act>Cct		adenosylhomocysteinase-like 1							95	83	87					1																	110555585		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110555585A>C	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.544A>C	1.37:g.110555585A>C	ENSP00000358814:p.Thr182Pro					AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P	p.T182P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	5	911	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	182					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.544A>C	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306786	0.95629	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82526	-1.62;-1.62;-1.62	6.07	6.07	0.98685	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-17.5851	16.6406	0.85098	1.0:0.0:0.0:0.0	.	182	O43865	SAHH2_HUMAN	P	182;135;135	ENSP00000358814:T182P;ENSP00000352092:T135P;ENSP00000377238:T135P	ENSP00000352092:T135P	T	+	1	0	AHCYL1	110357108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.326000	0.78906	0.533000	0.62120	ACT		0.473	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			31	128	0	0	0	1	0	31	128					C	110555585	A	C	110555585	3	2	79	1	0	0	0	0	1	0	0	0	410	43	2	4	562	4	AHCYL1	1	110555585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89585	110555585	138695036	888	11205											
FAM40A	85369	broad.mit.edu	37	chr1	110580524	110580524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcagggctattcggaGtcaccagacctggagtttga	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110580524G>T	ENST00000369795.3	+	2	214	c.192G>T	c.(190-192)gaG>gaT	p.E64D	STRIP1_ENST00000369796.1_5'UTR|STRIP1_ENST00000369794.2_Missense_Mutation_p.E64D	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	64					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GCTATTCGGAGTCACCAGACC	0.468																																						ENST00000369795.3																			0											c.(190-192)gaG>gaT		striatin interacting protein 1							102	98	99					1																	110580524		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110580524G>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.192G>T	1.37:g.110580524G>T	ENSP00000358810:p.Glu64Asp					STRIP1_ENST00000369796.1_5'UTR|STRIP1_ENST00000369794.2_Missense_Mutation_p.E64D	p.E64D	NM_033088.2	NP_149079.2					2	214	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.192G>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709525	0.15239	.	.	ENSG00000143093	ENST00000369795;ENST00000369794	T	0.51574	0.7	5.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.08088	0.0202	N	0.05124	-0.11	0.51482	D	0.999924	B	0.15719	0.014	B	0.18561	0.022	T	0.30621	-0.9972	10	0.05721	T	0.95	-27.0266	10.5499	0.45081	0.2788:0.0:0.7212:0.0	.	64	Q5VSL9	FA40A_HUMAN	D	64	ENSP00000358810:E64D	ENSP00000358809:E64D	E	+	3	2	FAM40A	110382047	1.000000	0.71417	0.948000	0.38648	0.641000	0.38312	1.119000	0.31258	0.627000	0.30340	0.555000	0.69702	GAG		0.468	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		39	228	1	0	2.40579e-17	1	2.65515e-17	39	228					T	110580524	G	T	110580524	3	4	79	1	0	0	0	0	1	0	0	0	5585	1020	36	3	198	3	FAM40A	1	110580524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24939	110580524	138670097	889	11206											
FAM40A	85369	broad.mit.edu	37	chr1	110582130	110582130	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtggagcttctgaacatgGaaatagagtgagcatttttg	13	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110582130G>T	ENST00000369795.3	+	5	596	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	STRIP1_ENST00000369796.1_Nonsense_Mutation_p.E97*|STRIP1_ENST00000369794.2_Nonsense_Mutation_p.E192*	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	192					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TCTGAACATGGAAATAGAGTG	0.532																																						ENST00000369795.3																			0											c.(574-576)Gaa>Taa		striatin interacting protein 1							80	67	71					1																	110582130		2203	4300	6503	SO:0001587	stop_gained	85369							g.chr1:110582130G>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.574G>T	1.37:g.110582130G>T	ENSP00000358810:p.Glu192*					STRIP1_ENST00000369796.1_Nonsense_Mutation_p.E97*|STRIP1_ENST00000369794.2_Nonsense_Mutation_p.E192*	p.E192*	NM_033088.2	NP_149079.2					5	596	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Nonsense_Mutation	SNP	ENST00000369795.3	37	c.574G>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	38	6.818810	0.97861	.	.	ENSG00000143093	ENST00000369796;ENST00000369795;ENST00000369794	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5442	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	X	97;192;192	.	ENSP00000358809:E192X	E	+	1	0	FAM40A	110383653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.427000	0.97472	2.817000	0.96982	0.549000	0.68633	GAA		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		4	52	1	0	0.184627	1	0.18487	4	52					T	110582130	G	T	110582130	4	4	79	1	0	0	0	0	0	1	0	0	5585	1175	41	3	592	3	FAM40A	1	110582130	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1606	110582130	138668491	890	11207											
FAM40A	85369	broad.mit.edu	37	chr1	110584457	110584457	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actttcccatgaagaaagttCtcttgctgctctggaagaca	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110584457C>A	ENST00000369795.3	+	8	881	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	STRIP1_ENST00000369796.1_Missense_Mutation_p.L192I	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	287					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAAGAAAGTTCTCTTGCTGCT	0.502																																						ENST00000369795.3																			0											c.(859-861)Ctc>Atc		striatin interacting protein 1							199	186	191					1																	110584457		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110584457C>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.859C>A	1.37:g.110584457C>A	ENSP00000358810:p.Leu287Ile					STRIP1_ENST00000369796.1_Missense_Mutation_p.L192I	p.L287I	NM_033088.2	NP_149079.2					8	881	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.859C>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158725	0.78226	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.89601	3.045	0.80722	D	1	D;D	0.64830	0.994;0.991	D;D	0.66196	0.928;0.942	T	0.68538	-0.5382	10	0.23302	T	0.38	-21.4477	14.4562	0.67418	0.0:0.9301:0.0:0.0699	.	192;287	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	192;287	ENSP00000358811:L192I;ENSP00000358810:L287I	ENSP00000358810:L287I	L	+	1	0	FAM40A	110385980	0.844000	0.29557	1.000000	0.80357	0.999000	0.98932	1.430000	0.34914	2.791000	0.96007	0.655000	0.94253	CTC		0.502	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		188	742	1	0	3.27827e-89	1	4.20655e-89	188	742					A	110584457	C	A	110584457	3	1	79	1	0	0	0	0	1	0	0	0	5585	913	32	3	889	3	FAM40A	1	110584457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2327	110584457	138666164	891	11208											
SLC6A17	388662	broad.mit.edu	37	chr1	110716645	110716645	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgatcatcgggtggagcatCttctatttcttcaagtcctt	9	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	165					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGTGGAGCATCTTCTATTTCT	0.572																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(493-495)atC>atA		solute carrier family 6 (neutral amino acid transporter), member 17							192	186	188					1																	110716645		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716645C>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.495C>A	1.37:g.110716645C>A							p.I165I	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	980	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	165					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.495C>A	CCDS30799.1																																																																																				0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		61	643	1	0	1.80625e-27	1	2.09175e-27	61	643					A	110716645	C	A	110716645	2	1	79	1	0	0	0	0	0	0	0	1	14730	903	32	3		3	SLC6A17	1	110716645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132188	110716645	138533976	892	11209											
SLC6A17	388662	broad.mit.edu	37	chr1	110719341	110719341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggcagttgatggcatcCtacacatgttcactcccaag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L	RP5-1028L10.2_ENST00000440688.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	282					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGGCATCCTACACATGTT	0.572																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(844-846)Cta>Tta		solute carrier family 6 (neutral amino acid transporter), member 17							147	120	130					1																	110719341		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110719341C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.844C>T	1.37:g.110719341C>T							p.L282L	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	6	1329	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	282					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.844C>T	CCDS30799.1																																																																																				0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		42	441	0	0	0	1	0	42	441					T	110719341	C	T	110719341	2	4	79	1	0	0	0	0	0	0	0	1	14730	680	24	2		2	SLC6A17	1	110719341	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2696	110719341	138531280	893	11210											
SLC6A17	388662	broad.mit.edu	37	chr1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttcgatgactactcgGccaccctgccactcactctc	6	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	528					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGACTACTCGGCCACCCTGCC	0.532																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1582-1584)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 17							105	87	93					1																	110738297		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738297G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1582G>A	1.37:g.110738297G>A	ENSP00000330199:p.Ala528Thr						p.A528T	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	2067	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	528					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1582G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909396	0.97093	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77877	-1.13	5.65	5.65	0.86999	.	0.102844	0.64402	D	0.000002	D	0.87366	0.6159	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88080	0.2806	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	528	Q9H1V8	S6A17_HUMAN	T	528	ENSP00000330199:A528T	ENSP00000330199:A528T	A	+	1	0	SLC6A17	110539820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	GCC		0.532	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		14	301	0	0	0	1	0	14	301					A	110738297	G	A	110738297	3	1	79	1	0	0	0	0	1	0	0	0	14730	1203	42	2	1616	2	SLC6A17	1	110738297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18956	110738297	138512324	894	11211											
SLC6A17	388662	broad.mit.edu	37	chr1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggacgctatgggagcgGctacctgctggccagcaccc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	716					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TATGGGAGCGGCTACCTGCTG	0.672																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2146-2148)gGc>gAc		solute carrier family 6 (neutral amino acid transporter), member 17							63	64	64					1																	110741029		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110741029G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2147G>A	1.37:g.110741029G>A	ENSP00000330199:p.Gly716Asp						p.G716D	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2632	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	716					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.2147G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511293	0.85389	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75154	-0.91	4.51	4.51	0.55191	.	0.385030	0.26156	N	0.026015	T	0.78704	0.4325	L	0.52573	1.65	0.58432	D	0.999996	D	0.71674	0.998	D	0.65443	0.935	T	0.82145	-0.0602	10	0.87932	D	0	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	716	Q9H1V8	S6A17_HUMAN	D	716	ENSP00000330199:G716D	ENSP00000330199:G716D	G	+	2	0	SLC6A17	110542552	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.098000	0.94202	2.053000	0.61076	0.313000	0.20887	GGC		0.672	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		61	482	0	0	0	1	0	61	482					A	110741029	G	A	110741029	3	1	79	1	0	0	0	0	1	0	0	0	14730	1203	42	2	2189	2	SLC6A17	1	110741029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2732	110741029	138509592	895	11212											
KCNC4	3749	broad.mit.edu	37	chr1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggccacaccctgagggCcagcaccaatgagttcctgc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000369787.3	+	2	1154	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	376					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1126-1128)gCc>gTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							57	48	51					1																	110766034		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766034C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1127C>T	1.37:g.110766034C>T	ENSP00000358802:p.Ala376Val					KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron	p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1154	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	376					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1127C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866427	0.91511	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98732	-5.1;-5.1;-5.1	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	18.4936	0.90856	0.0:1.0:0.0:0.0	.	376;376;376	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	V	376	ENSP00000358802:A376V;ENSP00000388029:A376V;ENSP00000393655:A376V	ENSP00000358802:A376V	A	+	2	0	KCNC4	110567557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.776000	0.85560	2.445000	0.82738	0.462000	0.41574	GCC		0.617	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		33	283	0	0	0	1	0	33	283					T	110766034	C	T	110766034	3	4	79	1	0	0	0	0	1	0	0	0	8047	739	26	2	1133	2	KCNC4	1	110766034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25005	110766034	138484587	896	11213											
KCNC4	3749	broad.mit.edu	37	chr1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgggaagagggtatgatcGagaggaaacgggcaggtgag	19	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000369787.3	+	2	1627	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	534					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1600-1602)Gag>Aag		potassium voltage-gated channel, Shaw-related subfamily, member 4							50	56	54					1																	110766507		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766507G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1600G>A	1.37:g.110766507G>A	ENSP00000358802:p.Glu534Lys					KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron	p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1627	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	534					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1600G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520122	0.44866	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97772	-4.53;-4.48;-4.48	5.03	4.12	0.48240	.	1.876610	0.02862	N	0.130416	D	0.94820	0.8327	M	0.67397	2.05	0.36759	D	0.883189	B;B;P	0.34892	0.12;0.155;0.474	B;B;B	0.24269	0.009;0.014;0.052	D	0.86509	0.1808	10	0.52906	T	0.07	.	13.4512	0.61172	0.0775:0.0:0.9225:0.0	.	534;534;534	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	534	ENSP00000358802:E534K;ENSP00000388029:E534K;ENSP00000393655:E534K	ENSP00000358802:E534K	E	+	1	0	KCNC4	110568030	1.000000	0.71417	0.846000	0.33378	0.942000	0.58702	3.378000	0.52432	1.268000	0.44264	0.462000	0.41574	GAG		0.577	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		29	227	0	0	0	1	0	29	227					A	110766507	G	A	110766507	3	1	79	1	0	0	0	0	1	0	0	0	8047	1059	37	1	1606	1	KCNC4	1	110766507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	110766507	138484114	897	11214											
RBM15	64783	broad.mit.edu	37	chr1	110882330	110882330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagtctccacctggaCaagtccagcagtcgaggtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	101	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCACCTGGACAAGTCCAGCA	0.607			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(301-303)gaC>gaT		RNA binding motif protein 15							19	21	20					1																	110882330		2200	4291	6491	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882330C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.303C>T	1.37:g.110882330C>T			OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000602849.1_Silent_p.D101D|RBM15_ENST00000487146.2_Silent_p.D101D	p.D101D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1203	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	101			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.303C>T	CCDS822.1																																																																																				0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		10	178	0	0	0	1	0	10	178					T	110882330	C	T	110882330	2	4	79	1	0	0	0	0	0	0	0	1	13166	477	17	2		2	RBM15	1	110882330	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115823	110882330	138368291	898	11215											
RBM15	64783	broad.mit.edu	37	chr1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagcttagtgacgaagCggtggaggacggcctgtttc	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	185	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGACGAAGCGGTGGAGGAC	0.597			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(553-555)gCg>gTg		RNA binding motif protein 15							71	75	73					1																	110882581		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882581C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.554C>T	1.37:g.110882581C>T	ENSP00000358799:p.Ala185Val		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RBM15_ENST00000487146.2_Missense_Mutation_p.A185V	p.A185V	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1454	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	185			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.554C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970749	0.34754	.	.	ENSG00000162775	ENST00000369784	T	0.17691	2.26	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46442	D	0.000284	T	0.04679	0.0127	N	0.12569	0.235	0.53005	D	0.99996	D;D	0.56521	0.976;0.96	B;B	0.40134	0.32;0.238	T	0.40590	-0.9555	10	0.13108	T	0.6	-9.2181	18.5182	0.90942	0.0:1.0:0.0:0.0	.	185;185	Q96T37-3;Q96T37	.;RBM15_HUMAN	V	185	ENSP00000358799:A185V	ENSP00000358799:A185V	A	+	2	0	RBM15	110684104	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.706000	0.92434	0.655000	0.94253	GCG		0.597	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		51	392	0	0	0	1	0	51	392					T	110882581	C	T	110882581	3	4	79	1	0	0	0	0	1	0	0	0	13166	768	27	1	556	1	RBM15	1	110882581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	110882581	138368040	899	11216											
RBM15	64783	broad.mit.edu	37	chr1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagccagggtgacaagCgagaccgtaaaaactctgca	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	717	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTGACAAGCGAGACCGTAA	0.502			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2149-2151)Cga>Tga		RNA binding motif protein 15							75	78	77					1																	110884176		2203	4300	6503	SO:0001587	stop_gained	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884176C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2149C>T	1.37:g.110884176C>T	ENSP00000358799:p.Arg717*					RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3049	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	717			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	37	c.2149C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.690748	0.99688	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.87	2.85	0.33270	.	0.000000	0.37012	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.793	13.5867	0.61935	0.2815:0.7185:0.0:0.0	.	.	.	.	X	717	.	ENSP00000358799:R717X	R	+	1	2	RBM15	110685699	0.623000	0.27094	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.234000	0.43709	0.655000	0.94253	CGA		0.502	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		28	342	0	0	0	1	0	28	342					T	110884176	C	T	110884176	4	4	79	1	0	0	0	0	0	1	0	0	13166	760	27	1	2151	1	RBM15	1	110884176	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	110884176	138366445	900	11217											
HBXIP	10542	broad.mit.edu	37	chr1	110946568	110946568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgattctagacacaccacaGgaatatcagtggggtcagag	11	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110946568G>T	ENST00000602318.1	-	3	275	c.188C>A	c.(187-189)cCt>cAt	p.P63H	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P145H|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.P51H|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.P62H|LAMTOR5_ENST00000474861.2_Missense_Mutation_p.P62H			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	63					cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ACACACCACAGGAATATCAGT	0.488																																						ENST00000474861.2																			0											c.(184-186)cCt>cAt		late endosomal/lysosomal adaptor, MAPK and MTOR activator 5							118	110	113					1																	110946568		2203	4300	6503	SO:0001583	missense	10542							g.chr1:110946568G>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.188C>A	1.37:g.110946568G>T	ENSP00000473439:p.Pro63His					LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P145H|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000602318.1_Missense_Mutation_p.P63H|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.P62H|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.P51H	p.P62H							3	791	-								Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.185C>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.775065	0.90108	.	.	ENSG00000134248	ENST00000483260;ENST00000474861;ENST00000256644	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.62740	0.906	T	0.77264	-0.2652	8	0.87932	D	0	-19.2524	19.3531	0.94398	0.0:0.0:1.0:0.0	.	63	O43504	HBXIP_HUMAN	H	62;62;145	.	ENSP00000256644:P145H	P	-	2	0	HBXIP	110748091	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.482000	0.90439	2.941000	0.99782	0.655000	0.94253	CCT		0.488	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		105	444	1	0	3.77761e-39	1	4.56358e-39	105	444					T	110946568	G	T	110946568	3	4	79	1	0	0	0	0	1	0	0	0	7018	1000	35	3	95	3	HBXIP	1	110946568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62392	110946568	138304053	901	11218											
KCNA10	3744	broad.mit.edu	37	chr1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactgtcttgctcatgttgaGattggggtctctgaccacct	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTCATGTTGAGATTGGGGTCT	0.542																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(763-765)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 10							201	157	172					1																	111060647		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060647G>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.763C>A	1.37:g.111060647G>T	ENSP00000358786:p.Leu255Ile						p.L255I	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1150	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	255						Missense_Mutation	SNP	ENST00000369771.2	37	c.763C>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067166	0.01934	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.8	1.72	0.24424	.	.	.	.	.	D	0.83626	0.5295	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74503	-0.3644	9	0.34782	T	0.22	.	5.0872	0.14689	0.0704:0.1144:0.3314:0.4838	.	255	Q16322	KCA10_HUMAN	I	255	ENSP00000358786:L255I	ENSP00000358786:L255I	L	-	1	0	KCNA10	110862170	0.026000	0.19158	0.178000	0.23040	0.216000	0.24613	0.509000	0.22707	0.064000	0.16427	-0.152000	0.13540	CTC		0.542	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		49	413	1	0	6.14515e-18	1	6.80267e-18	49	413					T	111060647	G	T	111060647	3	4	79	1	0	0	0	0	1	0	0	0	8032	942	33	3	776	3	KCNA10	1	111060647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114079	111060647	138189974	902	11219											
KCNA10	3744	broad.mit.edu	37	chr1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccacagcacgggcaGcgctggaactttcagggtac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGCACGGGCAGCGCTGGAACT	0.552																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(640-642)gCt>gTt		potassium voltage-gated channel, shaker-related subfamily, member 10							104	104	104					1																	111060769		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060769G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.641C>T	1.37:g.111060769G>A	ENSP00000358786:p.Ala214Val						p.A214V	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1028	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	214						Missense_Mutation	SNP	ENST00000369771.2	37	c.641C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669436	0.29693	.	.	ENSG00000143105	ENST00000369771	T	0.63255	-0.03	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.83483	2.645	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.62326	D	0.03	.	14.0696	0.64852	0.0728:0.0:0.9272:0.0	.	214	Q16322	KCA10_HUMAN	V	214	ENSP00000358786:A214V	ENSP00000358786:A214V	A	-	2	0	KCNA10	110862292	1.000000	0.71417	0.124000	0.21820	0.088000	0.18126	8.023000	0.88764	1.509000	0.48786	-0.137000	0.14449	GCT		0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		67	223	0	0	0	1	0	67	223					A	111060769	G	A	111060769	3	1	79	1	0	0	0	0	1	0	0	0	8032	971	34	2	898	2	KCNA10	1	111060769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	111060769	138189852	903	11220											
KCNA10	3744	broad.mit.edu	37	chr1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccagctcatagaaggagAtttcatcagcaaagatatca	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	ATAGAAGGAGATTTCATCAGC	0.488																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(496-498)aTc>aGc		potassium voltage-gated channel, shaker-related subfamily, member 10							85	87	87					1																	111060913		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060913A>C	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.497T>G	1.37:g.111060913A>C	ENSP00000358786:p.Ile166Ser						p.I166S	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	884	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	166						Missense_Mutation	SNP	ENST00000369771.2	37	c.497T>G	CCDS826.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801845	0.70682	.	.	ENSG00000143105	ENST00000369771	T	0.79141	-1.24	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049923	0.85682	D	0.000000	D	0.89996	0.6877	H	0.94964	3.605	0.58432	D	0.999999	D	0.53462	0.96	D	0.72338	0.977	D	0.92567	0.6063	10	0.87932	D	0	.	15.1961	0.73088	1.0:0.0:0.0:0.0	.	166	Q16322	KCA10_HUMAN	S	166	ENSP00000358786:I166S	ENSP00000358786:I166S	I	-	2	0	KCNA10	110862436	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC		0.488	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		69	256	0	0	0	1	0	69	256					C	111060913	A	C	111060913	3	2	79	1	0	0	0	0	1	0	0	0	8032	333	12	4	1042	4	KCNA10	1	111060913	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144	111060913	138189708	904	11221											
KCNA3	3738	broad.mit.edu	37	chr1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcacagagagatcccaCaatcttgccccctatggtca	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	460					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGAGATCCCACAATCTTGCCC	0.537																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1378-1380)Gtg>Atg		potassium voltage-gated channel, shaker-related subfamily, member 3							110	89	96					1																	111216054		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216054C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1378G>A	1.37:g.111216054C>T	ENSP00000358784:p.Val460Met						p.V460M	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1601	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	460					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1378G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147156	0.77888	.	.	ENSG00000177272	ENST00000369769	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99269	0.9745	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	460	P22001	KCNA3_HUMAN	M	460	ENSP00000358784:V460M	ENSP00000358784:V460M	V	-	1	0	KCNA3	111017577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GTG		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		59	226	0	0	0	1	0	59	226					T	111216054	C	T	111216054	3	4	79	1	0	0	0	0	1	0	0	0	8034	478	17	2	353	2	KCNA3	1	111216054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155141	111216054	138034567	905	11222											
KCNA3	3738	broad.mit.edu	37	chr1	111216303	111216303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttggagtggcgcgacaGcttgaagatgcggaagaccc	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	377					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGCGCGACAGCTTGAAGATG	0.597																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1129-1131)Ctg>Ttg		potassium voltage-gated channel, shaker-related subfamily, member 3							111	111	111					1																	111216303		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216303G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1129C>T	1.37:g.111216303G>A							p.L377L	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1352	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	377					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1129C>T	CCDS828.2																																																																																				0.597	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		50	510	0	0	0	1	0	50	510					A	111216303	G	A	111216303	2	1	79	1	0	0	0	0	0	0	0	1	8034	962	34	2		2	KCNA3	1	111216303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	111216303	138034318	906	11223											
C1orf103	55791	broad.mit.edu	37	chr1	111490729	111490729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcggtataatttttaTtgaagaaatgactttgttca	6	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111490729T>C	ENST00000369763.4	-	4	2552	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.N185S|LRIF1_ENST00000494675.1_Missense_Mutation_p.N185S	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAATTTTTATTGAAGAAATG	0.368																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(2161-2163)aAt>aGt		ligand dependent nuclear receptor interacting factor 1							124	127	126					1																	111490729		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490729T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2162A>G	1.37:g.111490729T>C	ENSP00000358778:p.Asn721Ser					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.N185S|LRIF1_ENST00000485275.2_Missense_Mutation_p.N185S	p.N721S	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			4	2552	-			721					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.2162A>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336498	0.24253	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.29397	1.97;1.57;1.57	5.71	-2.67	0.06059	.	0.857247	0.10376	N	0.682157	T	0.06781	0.0173	L	0.38531	1.155	0.09310	N	0.999991	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.004	T	0.40961	-0.9535	10	0.21014	T	0.42	-1.4343	6.857	0.24046	0.0:0.5097:0.1641:0.3262	.	185;721	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	S	721;185;185	ENSP00000358778:N721S;ENSP00000435259:N185S;ENSP00000432290:N185S	ENSP00000358778:N721S	N	-	2	0	LRIF1	111292252	0.025000	0.19082	0.872000	0.34217	0.864000	0.49448	-0.193000	0.09573	-0.391000	0.07763	0.482000	0.46254	AAT		0.368	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		66	633	0	0	0	1	0	66	633					C	111490729	T	C	111490729	3	2	79	1	0	0	0	0	1	0	0	0	1984	1493	52	4	151	4	C1orf103	1	111490729	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	274426	111490729	137759892	907	11224											
CEPT1	10390	broad.mit.edu	37	chr1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatatcaaagtgctggaCggtccctgcttgagccctta	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	61					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(181-183)Cgg>Tgg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						158	143	148					1																	111690517		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111690517C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.181C>T	1.37:g.111690517C>T	ENSP00000441980:p.Arg61Trp					CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	2	389	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	61					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.181C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319614	0.81469	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.47869	0.83;0.83	5.3	4.38	0.52667	.	0.059906	0.64402	D	0.000002	T	0.47857	0.1468	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.71674	0.998;0.96	P;P	0.59115	0.852;0.586	T	0.54057	-0.8350	10	0.66056	D	0.02	-23.4159	10.9488	0.47317	0.3405:0.6595:0.0:0.0	.	61;61	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	61	ENSP00000441980:R61W;ENSP00000349696:R61W	ENSP00000349696:R61W	R	+	1	2	CEPT1	111492040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.208000	0.32345	1.443000	0.47586	0.655000	0.94253	CGG		0.448	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		114	422	0	0	0	1	0	114	422					T	111690517	C	T	111690517	3	4	79	1	0	0	0	0	1	0	0	0	3273	527	19	1	183	1	CEPT1	1	111690517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199788	111690517	137560104	908	11225											
DENND2D	79961	broad.mit.edu	37	chr1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaacgggtagatgacagCcatggagatctgatgtctct	12	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	182	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(544-546)Gct>Act		DENN/MADD domain containing 2D							87	79	82					1																	111738639		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111738639C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.544G>A	1.37:g.111738639C>T	ENSP00000350266:p.Ala182Thr					DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	p.A182T	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	6	773	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	182			DENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.544G>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829128	0.96996	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.11930	2.73;2.73	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01720	-1.1288	10	0.34782	T	0.22	-14.3451	16.4125	0.83723	0.0:1.0:0.0:0.0	.	179;182	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	T	182;179	ENSP00000350266:A182T;ENSP00000358767:A179T	ENSP00000350266:A182T	A	-	1	0	DENND2D	111540162	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.471000	0.83476	0.555000	0.69702	GCT		0.567	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		53	255	0	0	0	1	0	53	255					T	111738639	C	T	111738639	3	4	79	1	0	0	0	0	1	0	0	0	4447	739	26	2	899	2	DENND2D	1	111738639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48122	111738639	137511982	909	11226											
OVGP1	5016	broad.mit.edu	37	chr1	111966237	111966237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatataagaagaaaagGtcaagaccatcaaagtcatg	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000540696.1_Silent_p.D77D|OVGP1_ENST00000481495.1_5'Flank	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	137					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAGAAAAGGTCAAGACCAT	0.433																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(409-411)gaC>gaT		oviductal glycoprotein 1, 120kDa							110	99	103					1																	111966237		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966237G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.411C>T	1.37:g.111966237G>A						OVGP1_ENST00000540696.1_Silent_p.D77D	p.D137D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	466	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	137					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.411C>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982861	0.02180	.	.	ENSG00000085465	ENST00000434331	.	.	.	4.54	1.62	0.23740	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	5	0.52906	T	0.07	-34.5513	8.1245	0.30990	0.3582:0.0:0.6418:0.0	.	.	.	.	I	7	.	ENSP00000397065:T7I	T	-	2	0	OVGP1	111767760	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	0.627000	0.24506	0.256000	0.21614	-1.094000	0.02160	ACC		0.433	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		51	257	0	0	0	1	0	51	257					A	111966237	G	A	111966237	2	1	79	1	0	0	0	0	0	0	0	1	11367	1252	44	2		2	OVGP1	1	111966237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227598	111966237	137284384	910	11227											
WDR77	79084	broad.mit.edu	37	chr1	111984012	111984012	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcttggcttctaaacCtagaagaaagaaaaaaagtc	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		WDR77_ENST00000497278.1_Splice_Site|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTTCTAAACCTAGAAGAAAG	0.498																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e10-1		WD repeat domain 77							52	54	53					1																	111984012		2203	4300	6503	SO:0001630	splice_region_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111984012C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.870-1G>A	1.37:g.111984012C>T						WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site		NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1076	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Splice_Site	SNP	ENST00000235090.5	37		CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022708	0.75275	.	.	ENSG00000116455	ENST00000235090;ENST00000411751;ENST00000449340	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR77	111785535	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.441000	0.73439	2.808000	0.96608	0.655000	0.94253	.		0.498	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102	Intron	57	217	0	0	0	1	0	57	217					T	111984012	C	T	111984012	5	4	79	1	0	0	0	0	0	0	1	0	17381	695	24	2	163	2	WDR77	1	111984012	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	111984012	137266609	911	11228											
ATP5F1	515	broad.mit.edu	37	chr1	111999344	111999344	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcacaacaggcactggtTcagaagcgccattacctttt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.V99V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	160					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(478-480)gtT>gtG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							119	111	113					1																	111999344		2203	4300	6503	SO:0001819	synonymous_variant	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111999344T>G	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.480T>G	1.37:g.111999344T>G						ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.V99V	p.V160V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	5	1086	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	160					Q9BQ68|Q9BRU8	Silent	SNP	ENST00000369722.3	37	c.480T>G	CCDS836.1																																																																																				0.403	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		67	594	0	0	0	1	0	67	594					G	111999344	T	G	111999344	2	3	79	1	0	0	0	0	0	0	0	1	1153	1770	62	4		4	ATP5F1	1	111999344	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15332	111999344	137251277	912	11229											
C1orf162	128346	broad.mit.edu	37	chr1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggaatcacttacctatgCcagcacaactttcaaactct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral component of membrane (GO:0016021)		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443																																						ENST00000343534.5																			1	Substitution - Missense(1)	p.A121V(1)	ovary(1)	NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(361-363)gCc>gAc		chromosome 1 open reading frame 162							103	98	99					1																	112020639		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020639C>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.362C>A	1.37:g.112020639C>A	ENSP00000344218:p.Ala121Asp					C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	p.A121D	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	612	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	121					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.362C>A	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333575	0.60853	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.60299	0.2;0.21	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	D	121;96	ENSP00000344218:A121D;ENSP00000358732:A96D	ENSP00000344218:A121D	A	+	2	0	C1orf162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC		0.443	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		37	330	1	0	6.29468e-14	1	6.81746e-14	37	330					A	112020639	C	A	112020639	3	1	79	1	0	0	0	0	1	0	0	0	2017	739	26	3	380	3	C1orf162	1	112020639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21295	112020639	137229982	913	11230											
ADORA3	140	broad.mit.edu	37	chr1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagtccaatgaaaatttCcatggtgatgtaggtaacat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATGAAAATTTCCATGGTGATG	0.532																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(55-57)Gaa>Aaa		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						67	56	59					1																	112045922		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045922C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.55G>A	1.37:g.112045922C>T	ENSP00000241356:p.Glu19Lys					ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	p.E19K	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	460	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	19					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.55G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149557	0.78001	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37411	1.2;1.2	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000165	T	0.51126	0.1656	M	0.66439	2.03	0.80722	D	1	D;D	0.54601	0.967;0.958	P;D	0.74023	0.765;0.982	T	0.30149	-0.9988	10	0.28530	T	0.3	-22.6307	19.2654	0.93983	0.0:1.0:0.0:0.0	.	19;19	P33765;P33765-2	AA3R_HUMAN;.	K	19	ENSP00000358730:E19K;ENSP00000241356:E19K	ENSP00000241356:E19K	E	-	1	0	ADORA3	111847445	1.000000	0.71417	0.947000	0.38551	0.125000	0.20455	7.487000	0.81328	2.659000	0.90383	0.561000	0.74099	GAA		0.532	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		16	124	0	0	0	1	0	16	124					T	112045922	C	T	112045922	3	4	79	1	0	0	0	0	1	0	0	0	329	864	30	2	1623	2	ADORA3	1	112045922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25283	112045922	137204699	914	11231											
DDX20	11218	broad.mit.edu	37	chr1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattattggaatgctcagaGacatccaagttggatggcag	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000369702.4	+	11	3022	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	DDX20_ENST00000475700.1_Missense_Mutation_p.R409K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	801					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCTCAGAGACATCCAAGT	0.403																																						ENST00000475700.1																			0				endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(1225-1227)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							79	80	80					1																	112309448		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309448G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2402G>A	1.37:g.112309448G>A	ENSP00000358716:p.Arg801Lys					DDX20_ENST00000369702.4_Missense_Mutation_p.R801K	p.R409K			Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	3584	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	801			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1226G>A	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369712	0.82573	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34275	1.37;1.83	5.82	5.82	0.92795	.	0.169212	0.64402	D	0.000014	T	0.19208	0.0461	L	0.52364	1.645	0.80722	D	1	P;B	0.42518	0.782;0.236	B;B	0.36378	0.223;0.091	T	0.02596	-1.1136	9	.	.	.	-19.141	12.9785	0.58549	0.0743:0.0:0.9257:0.0	.	409;801	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	801;409	ENSP00000358716:R801K;ENSP00000435660:R409K	.	R	+	2	0	DDX20	112110971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.045000	0.64220	2.760000	0.94817	0.655000	0.94253	AGA		0.403	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		57	303	0	0	0	1	0	57	303					A	112309448	G	A	112309448	3	1	79	1	0	0	0	0	1	0	0	0	4359	942	33	2	2444	2	DDX20	1	112309448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263526	112309448	136941173	915	11232											
KCND3	3752	broad.mit.edu	37	chr1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtagcgctccccgcacGgcagctccttgctgcccggg	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000315987.2	-	2	1129	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000369697.1_Missense_Mutation_p.P217Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	217					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCCCCGCACGGCAGCTCCTT	0.642																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(649-651)cCg>cAg		potassium voltage-gated channel, Shal-related subfamily, member 3							28	29	28					1																	112524699		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524699G>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.650C>A	1.37:g.112524699G>T	ENSP00000319591:p.Pro217Gln					KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000315987.2_Missense_Mutation_p.P217Q	p.P217Q			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	719	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	217					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.650C>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090032	0.55968	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.18;-4.19;-4.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.64997	1.995	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.26614	0.071;0.071	D	0.92464	0.5980	10	0.52906	T	0.07	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	217;217	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	217	ENSP00000358711:P217Q;ENSP00000319591:P217Q;ENSP00000306923:P217Q	ENSP00000306923:P217Q	P	-	2	0	KCND3	112326222	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CCG		0.642	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		43	191	1	0	1.96642e-18	1	2.182e-18	43	191					T	112524699	G	T	112524699	3	4	79	1	0	0	0	0	1	0	0	0	8050	1116	39	3	1345	3	KCND3	1	112524699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215251	112524699	136725922	916	11233											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998846	112998846	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttatcagagtttgacatCgaaagggaacaactgagagc	11	7	1	3	rs551998213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGACATCGAAAGGGAAC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(730-732)atC>atT		CTTNBP2 N-terminal like							93	104	100					1																	112998846		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112998846C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.732C>T	1.37:g.112998846C>T							p.I244I	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	957	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	244					B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.732C>T	CCDS845.1																																																																																				0.463	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		15	382	0	0	0	1	0	15	382					T	112998846	C	T	112998846	2	4	79	1	0	0	0	0	0	0	0	1	4057	874	31	1		1	CTTNBP2NL	1	112998846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474147	112998846	136251775	917	11234											
WNT2B	7482	broad.mit.edu	37	chr1	113059749	113059749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcccccaggctgtgCggcggtttctgaagctggag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	ENST00000369684.4	+	4	1173	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R211W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	230					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGCTGTGCGGCGGTTTCT	0.562																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(688-690)Cgg>Tgg		wingless-type MMTV integration site family, member 2B							81	71	74					1																	113059749		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059749C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.688C>T	1.37:g.113059749C>T	ENSP00000358698:p.Arg230Trp					WNT2B_ENST00000369686.4_Missense_Mutation_p.R211W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	p.R230W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1173	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	230					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.688C>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525675	0.64860	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76839	-1.05;-1.05;-1.05	5.53	5.53	0.82687	.	0.050131	0.85682	D	0.000000	T	0.54224	0.1845	L	0.29908	0.895	0.43317	D	0.995338	B;B	0.17852	0.024;0.02	B;B	0.14023	0.01;0.006	T	0.55179	-0.8181	10	0.39692	T	0.17	.	12.383	0.55317	0.2786:0.7214:0.0:0.0	.	230;211	Q93097;Q93097-2	WNT2B_HUMAN;.	W	138;211;230	ENSP00000256640:R138W;ENSP00000358700:R211W;ENSP00000358698:R230W	ENSP00000256640:R138W	R	+	1	2	WNT2B	112861272	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.692000	0.54727	2.599000	0.87857	0.555000	0.69702	CGG		0.562	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		84	312	0	0	0	1	0	84	312					T	113059749	C	T	113059749	3	4	79	1	0	0	0	0	1	0	0	0	17441	759	27	1	835	1	WNT2B	1	113059749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	113059749	136190872	918	11235											
WNT2B	7482	broad.mit.edu	37	chr1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggttcctgtactctgcGcacctgctggcgtgcactct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369684.4	+	4	1231	c.746G>A	c.(745-747)cGc>cAc	p.R249H	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	249					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTGCGCACCTGCTGG	0.607																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(745-747)cGc>cAc		wingless-type MMTV integration site family, member 2B							90	72	78					1																	113059807		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059807G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.746G>A	1.37:g.113059807G>A	ENSP00000358698:p.Arg249His					WNT2B_ENST00000369686.4_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	p.R249H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1231	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	249					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.746G>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060559	0.93846	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77620	-1.11;-1.11;-1.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93450	0.6801	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	249;230	Q93097;Q93097-2	WNT2B_HUMAN;.	H	157;230;249	ENSP00000256640:R157H;ENSP00000358700:R230H;ENSP00000358698:R249H	ENSP00000256640:R157H	R	+	2	0	WNT2B	112861330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.599000	0.87857	0.555000	0.69702	CGC		0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		69	288	0	0	0	1	0	69	288					A	113059807	G	A	113059807	3	1	79	1	0	0	0	0	1	0	0	0	17441	1087	38	1	893	1	WNT2B	1	113059807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	113059807	136190814	919	11236											
ST7L	54879	broad.mit.edu	37	chr1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattcgtttccagtgctgaaGatgaaagaaagcataggcaa	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	446					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363																																						ENST00000358039.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15						c.(1336-1338)Ctt>Att		suppression of tumorigenicity 7 like							135	125	129					1																	113098550		2203	4300	6503	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113098550G>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1336C>A	1.37:g.113098550G>T	ENSP00000350734:p.Leu446Ile					ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I	p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1640	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	446					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.1336C>A	CCDS848.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750582	0.89753	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	L	0.56199	1.76	0.80722	D	1	D;D;P;D;D;P;D;P	0.89917	1.0;0.999;0.697;0.96;0.96;0.919;0.96;0.934	D;D;P;P;P;P;P;P	0.87578	0.997;0.998;0.574;0.668;0.668;0.668;0.668;0.776	T	0.01228	-1.1412	10	0.37606	T	0.19	-13.8533	19.1881	0.93653	0.0:0.0:1.0:0.0	.	390;381;381;446;429;429;446;446	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	I	446;446;227;381;263;429;446;446;429;390	ENSP00000350734:L446I;ENSP00000353972:L446I;ENSP00000445499:L381I;ENSP00000358683:L263I;ENSP00000417140:L429I;ENSP00000358682:L446I;ENSP00000345312:L446I;ENSP00000358680:L429I;ENSP00000444021:L390I	ENSP00000345312:L446I	L	-	1	0	ST7L	112900073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.625000	0.88918	0.585000	0.79938	CTT		0.363	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			41	369	1	0	6.2361e-21	1	7.00342e-21	41	369					T	113098550	G	T	113098550	3	4	79	1	0	0	0	0	1	0	0	0	15282	942	33	3	446	3	ST7L	1	113098550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38743	113098550	136152071	920	11237											
MOV10	4343	broad.mit.edu	37	chr1	113232719	113232719	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggagagagacctgacCggtaactcctccctccaact	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000413052.2	+	5	1225	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	MOV10_ENST00000369644.1_Splice_Site_p.R223C|MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Splice_Site_p.R279C	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	279					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGACCTGACCGGTAACTCCT	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.e6+1		Mov10, Moloney leukemia virus 10, homolog (mouse)							43	44	44					1																	113232719		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232719C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.836+1C>T	1.37:g.113232719C>T						MOV10_ENST00000357443.2_Splice_Site_p.R279_splice|MOV10_ENST00000369645.1_Splice_Site_p.R279_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.R279_splice	p.R223_splice			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	6	1696	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	279					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	37	c.668_splice	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517779	0.64634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.77	0.0455	0.14230	.	0.581408	0.19919	N	0.103134	D	0.87204	0.6119	L	0.61218	1.895	0.80722	D	1	P;D;P	0.76494	0.951;0.999;0.951	B;P;B	0.56343	0.326;0.796;0.326	T	0.82729	-0.0313	10	0.42905	T	0.14	-8.0E-4	0.619	0.00775	0.2068:0.3713:0.1398:0.2821	.	223;279;279	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	279;279;279;223;279;217	ENSP00000399797:R279C;ENSP00000358659:R279C;ENSP00000358658:R223C;ENSP00000350028:R279C	ENSP00000285733:R279C	R	+	1	0	MOV10	113034242	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	0.525000	0.22956	0.087000	0.17167	0.561000	0.74099	CGC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	80	296	0	0	0	1	0	80	296					T	113232719	C	T	113232719	5	4	79	1	0	0	0	0	0	0	1	0	9759	666	23	1	849	1	MOV10	1	113232719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134169	113232719	136017902	921	11238											
MOV10	4343	broad.mit.edu	37	chr1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagcagggacatccGcatggtacctgaggacatca	12	14	1	1	rs188207425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000413052.2	+	11	2147	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	MOV10_ENST00000369644.1_Missense_Mutation_p.R530H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R586H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	586					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R586L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGGACATCCGCATGGTACCT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19491	0.001		0.0	False		,,,				2504	0.0					ENST00000369644.1																			1	Substitution - Missense(1)	p.R586L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1588-1590)cGc>cAc		Mov10, Moloney leukemia virus 10, homolog (mouse)							54	48	50					1																	113238174		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238174G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1757G>A	1.37:g.113238174G>A	ENSP00000399797:p.Arg586His					MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.R586H	p.R530H			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	12	2618	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	586					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1589G>A	CCDS853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.91	2.377101	0.42105	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.67	2.45	0.29901	.	0.688797	0.14861	N	0.294066	T	0.59622	0.2207	L	0.39898	1.24	0.09310	N	0.999996	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.005	T	0.55457	-0.8138	10	0.42905	T	0.14	-5.1003	9.3777	0.38292	0.3334:0.0:0.6666:0.0	.	530;586	Q5JR04;Q9HCE1	.;MOV10_HUMAN	H	586;586;530;586;524	ENSP00000399797:R586H;ENSP00000358659:R586H;ENSP00000358658:R530H;ENSP00000350028:R586H	ENSP00000350028:R586H	R	+	2	0	MOV10	113039697	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	1.012000	0.29924	0.768000	0.33290	0.655000	0.94253	CGC		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		18	136	0	0	0	1	0	18	136					A	113238174	G	A	113238174	3	1	79	1	0	0	0	0	1	0	0	0	9759	1087	38	1	1795	1	MOV10	1	113238174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	113238174	136012447	922	11239											
MOV10	4343	broad.mit.edu	37	chr1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcacacacatcttcatcGatgaggctggccactgcatg	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000413052.2	+	13	2323	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MOV10_ENST00000369644.1_Missense_Mutation_p.D589N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	645					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCTTCATCGATGAGGCTGG	0.572																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1765-1767)Gat>Aat		Mov10, Moloney leukemia virus 10, homolog (mouse)							112	103	106					1																	113239108		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239108G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1933G>A	1.37:g.113239108G>A	ENSP00000399797:p.Asp645Asn					MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.D645N	p.D589N			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	14	2794	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	645					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1765G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658653	0.96734	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	-15.6343	18.4724	0.90779	0.0:0.0:1.0:0.0	.	645	Q9HCE1	MOV10_HUMAN	N	645;645;589;645;583	ENSP00000399797:D645N;ENSP00000358659:D645N;ENSP00000358658:D589N;ENSP00000350028:D645N	ENSP00000350028:D645N	D	+	1	0	MOV10	113040631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.680000	0.91292	0.655000	0.94253	GAT		0.572	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		59	490	0	0	0	1	0	59	490					A	113239108	G	A	113239108	3	1	79	1	0	0	0	0	1	0	0	0	9759	1058	37	1	1979	1	MOV10	1	113239108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	934	113239108	136011513	923	11240											
MOV10	4343	broad.mit.edu	37	chr1	113242307	113242307	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctttccccactagGtgggttcagtagaagaattc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000413052.2	+	18	2974	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M	MOV10_ENST00000369644.1_Splice_Site_p.V806M|MOV10_ENST00000369645.1_Splice_Site_p.V862M|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Splice_Site_p.V862M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	862					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567																																						ENST00000369644.1																			1	Substitution - Missense(1)	p.V862L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.e19-1		Mov10, Moloney leukemia virus 10, homolog (mouse)							99	101	100					1																	113242307		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242307G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2584-1G>A	1.37:g.113242307G>A						MOV10_ENST00000357443.2_Splice_Site_p.V862_splice|MOV10_ENST00000369645.1_Splice_Site_p.V862_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.V862_splice	p.V806_splice			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	19	3445	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	862					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	37	c.2415_splice	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	M	862;862;806;862;800	ENSP00000399797:V862M;ENSP00000358659:V862M;ENSP00000358658:V806M;ENSP00000350028:V862M	ENSP00000350028:V862M	V	+	1	0	MOV10	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG		0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	60	491	0	0	0	1	0	60	491					A	113242307	G	A	113242307	5	1	79	1	0	0	0	0	0	0	1	0	9759	1275	44	2	2650	2	MOV10	1	113242307	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3199	113242307	136008314	924	11241											
MOV10	4343	broad.mit.edu	37	chr1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcatctccaccgtgCgaagcagccagagctttgtg	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000413052.2	+	18	3034	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	MOV10_ENST00000369644.1_Nonsense_Mutation_p.R826*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCACCGTGCGAAGCAGCCA	0.552																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2476-2478)Cga>Tga		Mov10, Moloney leukemia virus 10, homolog (mouse)							151	157	155					1																	113242367		2203	4300	6503	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242367C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2644C>T	1.37:g.113242367C>T	ENSP00000399797:p.Arg882*					MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Nonsense_Mutation_p.R882*	p.R826*			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	19	3505	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	882					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.2476C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	48	14.608624	0.99803	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.1	3.18	0.36537	.	0.057790	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9439	9.991	0.41872	0.0:0.7847:0.1389:0.0764	.	.	.	.	X	882;882;826;882;820	.	ENSP00000350028:R882X	R	+	1	2	MOV10	113043890	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	4.821000	0.62679	0.524000	0.28502	0.467000	0.42956	CGA		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		95	818	0	0	0	1	0	95	818					T	113242367	C	T	113242367	4	4	79	1	0	0	0	0	0	1	0	0	9759	760	27	1	2710	1	MOV10	1	113242367	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	113242367	136008254	925	11242											
MOV10	4343	broad.mit.edu	37	chr1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggccccacagccatgaCtacctcccccaggagcggga	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000413052.2	+	21	3327	c.2937C>A	c.(2935-2937)gaC>gaA	p.D979E	MOV10_ENST00000369644.1_Missense_Mutation_p.D923E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.D979E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	979					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACAGCCATGACTACCTCCCCC	0.602																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2767-2769)gaC>gaA		Mov10, Moloney leukemia virus 10, homolog (mouse)							80	83	82					1																	113243054		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113243054C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2937C>A	1.37:g.113243054C>A	ENSP00000399797:p.Asp979Glu					MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.D979E	p.D923E			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	22	3798	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	979					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2769C>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072504	0.07228	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91011	-2.77;-2.77;-2.76;-2.77	5.11	2.12	0.27331	.	0.578929	0.17478	N	0.172838	T	0.60130	0.2245	N	0.22421	0.69	0.20307	N	0.999918	B	0.16603	0.018	B	0.11329	0.006	T	0.54655	-0.8261	10	0.02654	T	1	-9.6831	6.2632	0.20912	0.0:0.6594:0.1626:0.1779	.	979	Q9HCE1	MOV10_HUMAN	E	979;979;923;979;917	ENSP00000399797:D979E;ENSP00000358659:D979E;ENSP00000358658:D923E;ENSP00000350028:D979E	ENSP00000350028:D979E	D	+	3	2	MOV10	113044577	0.065000	0.20965	0.005000	0.12908	0.003000	0.03518	0.539000	0.23175	0.635000	0.30488	-0.251000	0.11542	GAC		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		39	256	1	0	1.59361e-14	1	1.73214e-14	39	256					A	113243054	C	A	113243054	3	1	79	1	0	0	0	0	1	0	0	0	9759	564	20	3	3015	3	MOV10	1	113243054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	113243054	136007567	926	11243											
SLC16A1	6566	broad.mit.edu	37	chr1	113471841	113471841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaatgcataagagaagccGatggaaatgaaagctccaat	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000433570.4_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Silent_p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	30					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AAGAGAAGCCGATGGAAATGA	0.478																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(88-90)atC>atT		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						57	55	56					1																	113471841		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113471841G>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.90C>T	1.37:g.113471841G>A						SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Silent_p.I30I	p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	2	921	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	30					Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.90C>T	CCDS858.1																																																																																				0.478	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		15	203	0	0	0	1	0	15	203					A	113471841	G	A	113471841	2	1	79	1	0	0	0	0	0	0	0	1	14452	1048	37	1		1	SLC16A1	1	113471841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228787	113471841	135778780	927	11244											
LRIG2	9860	broad.mit.edu	37	chr1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggatctgactattcGcactggtgccatggccagat	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	614	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1840-1842)cGc>cAc		leucine-rich repeats and immunoglobulin-like domains 2							145	139	141					1																	113655143		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655143G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>A	1.37:g.113655143G>A	ENSP00000355396:p.Arg614His					LRIG2_ENST00000492207.1_3'UTR	p.R614H	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2039	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	614			Ig-like C2-type 2.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1841G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	33	5.254238	0.95336	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73388	-0.3998	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	H	614	ENSP00000355396:R614H	ENSP00000355396:R614H	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		134	463	0	0	0	1	0	134	463					A	113655143	G	A	113655143	3	1	79	1	0	0	0	0	1	0	0	0	8983	1087	38	1	1895	1	LRIG2	1	113655143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183302	113655143	135595478	928	11245											
LRIG2	9860	broad.mit.edu	37	chr1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgcatagctggagggagtCctgcccctcgtctcaactgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	723	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2167-2169)Cct>Act		leucine-rich repeats and immunoglobulin-like domains 2							99	91	93					1																	113657135		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657135C>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2167C>A	1.37:g.113657135C>A	ENSP00000355396:p.Pro723Thr					LRIG2_ENST00000492207.1_3'UTR	p.P723T	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2365	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	723			Ig-like C2-type 3.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2167C>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617751	0.87359	.	.	ENSG00000198799	ENST00000361127	T	0.74315	-0.83	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93558	0.6892	10	0.87932	D	0	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	723	O94898	LRIG2_HUMAN	T	723	ENSP00000355396:P723T	ENSP00000355396:P723T	P	+	1	0	LRIG2	113458658	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CCT		0.483	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		29	286	1	0	2.12542e-12	1	2.28249e-12	29	286					A	113657135	C	A	113657135	3	1	79	1	0	0	0	0	1	0	0	0	8983	855	30	3	2225	3	LRIG2	1	113657135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	113657135	135593486	929	11246											
LRIG2	9860	broad.mit.edu	37	chr1	113662141	113662141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctccacacagatgagCggtggtaagggatgtatttt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	989					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2965-2967)agC>agT		leucine-rich repeats and immunoglobulin-like domains 2							98	94	96					1																	113662141		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113662141C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2967C>T	1.37:g.113662141C>T						LRIG2_ENST00000492207.1_3'UTR	p.S989S	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	3165	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	989					Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2967C>T	CCDS30808.1																																																																																				0.438	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		26	172	0	0	0	1	0	26	172					T	113662141	C	T	113662141	2	4	79	1	0	0	0	0	0	0	0	1	8983	767	27	1		1	LRIG2	1	113662141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5006	113662141	135588480	930	11247											
LRIG2	9860	broad.mit.edu	37	chr1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcagaaacattgcagCggcccgtgtggaacataaac	9	11	1	1	rs151009293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	995					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2983-2985)Cgg>Tgg		leucine-rich repeats and immunoglobulin-like domains 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55	47	50		2983	5.9	0.4	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	995/1066	113666508	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113666508C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2983C>T	1.37:g.113666508C>T	ENSP00000355396:p.Arg995Trp					LRIG2_ENST00000492207.1_3'UTR	p.R995W	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	18	3181	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	995					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2983C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	LRIG2	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG		0.418	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		30	107	0	0	0	1	0	30	107					T	113666508	C	T	113666508	3	4	79	1	0	0	0	0	1	0	0	0	8983	759	27	1	3053	1	LRIG2	1	113666508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4367	113666508	135584113	931	11248											
MAGI3	260425	broad.mit.edu	37	chr1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagatataattaaggaAatataccatcaaaatgtgca	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000307546.9	+	10	1938	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	646	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTAAGGAAATATACCATC	0.408																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1861-1863)gaA>gaC		membrane associated guanylate kinase, WW and PDZ domain containing 3							99	101	100					1																	114185035		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114185035A>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1863A>C	1.37:g.114185035A>C	ENSP00000304604:p.Glu621Asp					MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000307546.9_Missense_Mutation_p.E621D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	p.E621D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1925	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	646			PDZ 3.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1863A>C	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827074	0.50739	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.47	0.0969	0.14492	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.84948	2.725	0.80722	D	1	B;D;B	0.76494	0.048;0.999;0.092	B;D;B	0.71184	0.088;0.972;0.207	T	0.63368	-0.6653	10	0.87932	D	0	-25.6132	9.6773	0.40047	0.5907:0.0:0.4093:0.0	.	621;621;646	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	646;621;621;621	ENSP00000358630:E646D;ENSP00000304604:E621D;ENSP00000358628:E621D;ENSP00000358624:E621D	ENSP00000304604:E621D	E	+	3	2	MAGI3	113986558	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.656000	0.46716	0.128000	0.18479	0.455000	0.32223	GAA		0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		47	252	0	0	0	1	0	47	252					C	114185035	A	C	114185035	3	2	79	1	0	0	0	0	1	0	0	0	9233	11	1	4	1901	4	MAGI3	1	114185035	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518527	114185035	135065586	932	11249											
MAGI3	260425	broad.mit.edu	37	chr1	114196597	114196597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaagaaaatgaaggattTggctttgtcatcctcacctc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114196597T>C	ENST00000307546.9	+	15	2661	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	MAGI3_ENST00000369611.4_Silent_p.F862F|MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369615.1_Silent_p.F862F	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	887					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAAGGATTTGGCTTTGTCA	0.517																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2584-2586)ttT>ttC		membrane associated guanylate kinase, WW and PDZ domain containing 3							201	208	205					1																	114196597		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196597T>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2586T>C	1.37:g.114196597T>C						MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000307546.9_Silent_p.F862F|MAGI3_ENST00000369611.4_Silent_p.F862F	p.F862F	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2648	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	887					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2586T>C	CCDS44196.1																																																																																				0.517	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		35	1215	0	0	0	1	0	35	1215					C	114196597	T	C	114196597	2	2	79	1	0	0	0	0	0	0	0	1	9233	1809	63	4		4	MAGI3	1	114196597	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11562	114196597	135054024	933	11250											
MAGI3	260425	broad.mit.edu	37	chr1	114215988	114215988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagagaggcccccggggCtttggattcagcctccgagg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000307546.9	+	19	3165	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000369611.4_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369615.1_Silent_p.G1030G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1055					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3088-3090)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							77	85	82					1																	114215988		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215988C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3090C>T	1.37:g.114215988C>T						MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000307546.9_Silent_p.G1030G|MAGI3_ENST00000369611.4_Silent_p.G1030G	p.G1030G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3152	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1055					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3090C>T	CCDS44196.1																																																																																				0.478	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		98	428	0	0	0	1	0	98	428					T	114215988	C	T	114215988	2	4	79	1	0	0	0	0	0	0	0	1	9233	784	28	2		2	MAGI3	1	114215988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19391	114215988	135034633	934	11251											
PHTF1	10745	broad.mit.edu	37	chr1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctaaatcttaccctaCggcacttttctccatctgaa	3	14	4	1	rs371523931		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	260					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCCTACGGCACTTTTC	0.358																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(778-780)cGt>cAt		putative homeodomain transcription factor 1		C	HIS/ARG	0,4406		0,0,2203	146	146	146		779	-0.9	0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHTF1	NM_006608.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	260/763	114255905	1,13005	2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114255905C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.779G>A	1.37:g.114255905C>T	ENSP00000358617:p.Arg260His					PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR	p.R260H			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1262	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	260					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.779G>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.401|9.401	1.077906|1.077906	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.55|5.55	-0.91|-0.91	0.10511|0.10511	.|.	0.913966|.	0.09577|.	N|.	0.783441|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.04508|0.04508	-0.205|-0.205	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.41963|0.41963	-0.9479|-0.9479	9|5	0.27082|.	T|.	0.32|.	-0.2427|-0.2427	6.2443|6.2443	0.20807|0.20807	0.0:0.2247:0.1549:0.6204|0.0:0.2247:0.1549:0.6204	.|.	215;260;15;260|.	F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2|.	.;PHTF1_HUMAN;.;.|.	H|I	215;260;207;215;207;260;260|16	.|.	ENSP00000350428:R260H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114057428|114057428	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.939000|0.939000	0.58152|0.58152	-0.664000|-0.664000	0.05292|0.05292	-0.036000|-0.036000	0.13669|0.13669	0.467000|0.467000	0.42956|0.42956	CGT|GTA		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		58	425	0	0	0	1	0	58	425					T	114255905	C	T	114255905	3	4	79	1	0	0	0	0	1	0	0	0	11904	536	19	1	1557	1	PHTF1	1	114255905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39917	114255905	134994716	935	11252											
RSBN1	54665	broad.mit.edu	37	chr1	114340180	114340180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtcaaagcaagaaaCtcctcagaaaatctctccat	5	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	394						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		aagcaagaAACTCCTCAGAAA	0.428																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1180-1182)gaG>gaA		round spermatid basic protein 1							41	39	40					1																	114340180		2203	4299	6502	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114340180C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1182G>A	1.37:g.114340180C>T							p.E394E	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1245	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	394					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.1182G>A	CCDS862.1																																																																																				0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		13	96	0	0	0	1	0	13	96					T	114340180	C	T	114340180	2	4	79	1	0	0	0	0	0	0	0	1	13746	564	20	2		2	RSBN1	1	114340180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84275	114340180	134910441	936	11253											
PTPN22	26191	broad.mit.edu	37	chr1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccagaaattcattggCaaactcctctttagtaattt	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	25	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(73-75)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							125	130	128					1																	114414173		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114414173C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.73G>A	1.37:g.114414173C>T	ENSP00000352833:p.Ala25Thr					PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|AP4B1-AS1_ENST00000419536.1_RNA	p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	208	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	25			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.73G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200671	0.06219	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.76;3.69;2.76;3.58;2.55	5.28	3.37	0.38596	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.213663	0.38492	N	0.001668	T	0.06234	0.0161	L	0.41906	1.305	0.36113	D	0.844951	P;B;P;B;B;B	0.52463	0.946;0.002;0.953;0.004;0.371;0.001	P;B;B;B;B;B	0.46452	0.517;0.002;0.375;0.008;0.092;0.003	T	0.26677	-1.0096	10	0.42905	T	0.14	.	8.2142	0.31501	0.1385:0.7143:0.0:0.1471	.	25;25;25;25;25;25	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	25	ENSP00000433141:A25T;ENSP00000352833:A25T;ENSP00000435176:A25T;ENSP00000388229:A25T;ENSP00000432674:A25T	ENSP00000346621:A25T	A	-	1	0	PTPN22	114215696	0.869000	0.29996	0.777000	0.31699	0.001000	0.01503	0.975000	0.29449	0.355000	0.24131	-2.636000	0.00152	GCC		0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		73	313	0	0	0	1	0	73	313					T	114414173	C	T	114414173	3	4	79	1	0	0	0	0	1	0	0	0	12837	710	25	2	2457	2	PTPN22	1	114414173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73993	114414173	134836448	937	11254											
BCL2L15	440603	broad.mit.edu	37	chr1	114429225	114429225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctccgttgaactggtcAcccaacatccgaaggcgacc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393316.3	-	2	354	c.183T>C	c.(181-183)ggT>ggC	p.G61G	BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	61					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTGGTCACCCAACATCC	0.448																																						ENST00000393316.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9						c.(181-183)ggT>ggC		BCL2-like 15							122	106	111					1																	114429225		2203	4300	6503	SO:0001819	synonymous_variant	440603				apoptosis			g.chr1:114429225A>G		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 178"	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.183T>C	1.37:g.114429225A>G						BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron	p.G61G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	354	-	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)	61					A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	37	c.183T>C	CCDS30809.1																																																																																				0.448	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		41	192	0	0	0	1	0	41	192					G	114429225	A	G	114429225	2	3	79	1	0	0	0	0	0	0	0	1	1374	146	6	4		4	BCL2L15	1	114429225	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15052	114429225	134821396	938	11255											
AP4B1	10717	broad.mit.edu	37	chr1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgacatacagcttcaGtacactgaggacacaaccaa	9	12	1	2	rs553444896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	416					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1246-1248)aCt>aTt		adaptor-related protein complex 4, beta 1 subunit							135	113	121					1																	114440517		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114440517G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1247C>T	1.37:g.114440517G>A	ENSP00000358582:p.Thr416Ile					AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	p.T416I	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1527	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	416					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1247C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887404	0.52014	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25414	1.8;1.8;1.8	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.314320	0.37437	N	0.002085	T	0.04092	0.0114	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.012	B;B;B	0.19666	0.026;0.018;0.014	T	0.16100	-1.0414	10	0.40728	T	0.16	.	9.7978	0.40746	0.1548:0.0:0.8452:0.0	.	248;416;317	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	I	248;416;416	ENSP00000358580:T248I;ENSP00000358582:T416I;ENSP00000256658:T416I	ENSP00000256658:T416I	T	-	2	0	AP4B1	114242040	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	3.377000	0.52425	2.588000	0.87417	0.462000	0.41574	ACT		0.502	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		50	204	0	0	0	1	0	50	204					A	114440517	G	A	114440517	3	1	79	1	0	0	0	0	1	0	0	0	751	1029	36	2	988	2	AP4B1	1	114440517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11292	114440517	134810104	939	11256											
AP4B1	10717	broad.mit.edu	37	chr1	114442734	114442734	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggtaaactatgcaagatCtggcgtacatgacaaagagc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442734C>A	ENST00000369569.1	-	5	1186	c.906G>T	c.(904-906)caG>caT	p.Q302H	AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	302					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAAGATCTGGCGTACAT	0.473																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(904-906)caG>caT		adaptor-related protein complex 4, beta 1 subunit							86	92	90					1																	114442734		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442734C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.906G>T	1.37:g.114442734C>A	ENSP00000358582:p.Gln302His					AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1-AS1_ENST00000419536.1_RNA	p.Q302H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1186	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	302					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.906G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647931	0.67358	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.62;1.76;1.76	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.175708	0.50627	D	0.000103	T	0.29355	0.0731	L	0.46157	1.445	0.51233	D	0.999914	D;P;P;B	0.57571	0.98;0.75;0.915;0.021	P;P;P;B	0.60236	0.871;0.637;0.549;0.071	T	0.01639	-1.1306	10	0.54805	T	0.06	.	13.0983	0.59206	0.0:0.9224:0.0:0.0776	.	209;134;302;203	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	134;302;302;209;227;134	ENSP00000358580:Q134H;ENSP00000358582:Q302H;ENSP00000256658:Q302H;ENSP00000358579:Q209H;ENSP00000358577:Q227H;ENSP00000393622:Q134H	ENSP00000256658:Q302H	Q	-	3	2	AP4B1	114244257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.487000	0.83934	0.462000	0.41574	CAG		0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		12	550	1	0	0.00010058	1	0.000102273	12	550					A	114442734	C	A	114442734	3	1	79	1	0	0	0	0	1	0	0	0	751	912	32	3	1337	3	AP4B1	1	114442734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2217	114442734	134807887	940	11257											
AP4B1	10717	broad.mit.edu	37	chr1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgaggaaactatccaacaGattgagaatgtcaaatagtt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	239					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(715-717)Ctg>Atg		adaptor-related protein complex 4, beta 1 subunit							98	92	94					1																	114442925		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442925G>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.715C>A	1.37:g.114442925G>T	ENSP00000358582:p.Leu239Met					AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1-AS1_ENST00000419536.1_RNA	p.L239M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	995	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	239					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.715C>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310287	0.60414	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;2.52;1.73;1.73;1.73	5.2	2.25	0.28309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.070081	0.64402	D	0.000014	T	0.30070	0.0753	M	0.78456	2.415	0.52501	D	0.999951	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.994;0.995;0.994	T	0.08911	-1.0699	10	0.36615	T	0.2	-4.2859	4.4719	0.11717	0.3052:0.0:0.5495:0.1454	.	146;71;239;140	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	M	71;239;239;146;164;71;239	ENSP00000358580:L71M;ENSP00000358582:L239M;ENSP00000256658:L239M;ENSP00000358579:L146M;ENSP00000358577:L164M;ENSP00000393622:L71M;ENSP00000358584:L239M	ENSP00000256658:L239M	L	-	1	2	AP4B1	114244448	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	2.477000	0.45180	0.270000	0.21984	-0.258000	0.10820	CTG		0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		36	302	1	0	2.51541e-25	1	2.88513e-25	36	302					T	114442925	G	T	114442925	3	4	79	1	0	0	0	0	1	0	0	0	751	933	33	3	1528	3	AP4B1	1	114442925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	114442925	134807696	941	11258											
AP4B1	10717	broad.mit.edu	37	chr1	114443916	114443916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcctccttcctgtttcaGaatttcctctagagacctca	5	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	187					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(559-561)Ctg>Ttg		adaptor-related protein complex 4, beta 1 subunit							105	103	104					1																	114443916		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114443916G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.559C>T	1.37:g.114443916G>A						AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1_ENST00000369566.3_Intron	p.L187L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	839	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	187					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.559C>T	CCDS865.1																																																																																				0.418	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		88	339	0	0	0	1	0	88	339					A	114443916	G	A	114443916	2	1	79	1	0	0	0	0	0	0	0	1	751	933	33	2		2	AP4B1	1	114443916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	991	114443916	134806705	942	11259											
AP4B1	10717	broad.mit.edu	37	chr1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagtctttgcacagcGtattgatggccaggagagcc	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	89					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(265-267)aCg>aTg		adaptor-related protein complex 4, beta 1 subunit							136	112	120					1																	114445332		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445332G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.266C>T	1.37:g.114445332G>A	ENSP00000358582:p.Thr89Met					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M	p.T89M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	546	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	89					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.266C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983200	0.93044	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.90198	3.095	0.35726	D	0.817514	D;D	0.89917	1.0;1.0	D;D	0.85130	0.953;0.997	T	0.70439	-0.4871	10	0.72032	D	0.01	-6.4216	18.9713	0.92716	0.0:0.0:1.0:0.0	.	89;89	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	M	89	ENSP00000358582:T89M;ENSP00000256658:T89M;ENSP00000358579:T89M;ENSP00000358584:T89M	ENSP00000256658:T89M	T	-	2	0	AP4B1	114246855	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.244000	0.78228	2.465000	0.83290	0.655000	0.94253	ACG		0.522	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		31	267	0	0	0	1	0	31	267					A	114445332	G	A	114445332	3	1	79	1	0	0	0	0	1	0	0	0	751	1145	40	1	1989	1	AP4B1	1	114445332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1416	114445332	134805289	943	11260											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccccaattacagcccacCtcttgcatcgtcacctacag	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	57					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCCCACCTCTTGCATCG	0.587								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(169-171)Ctc>Ttc	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							50	48	48					1																	114448377		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114448377C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.169C>T	1.37:g.114448377C>T	ENSP00000358576:p.Leu57Phe		OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1458	DCLRE1B_ENST00000466480.1_3'UTR	p.L57F	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	615	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	57					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.169C>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874689	0.91664	.	.	ENSG00000118655	ENST00000369563	T	0.77750	-1.12	5.56	5.56	0.83823	Beta-lactamase-like (1);	0.059585	0.64402	D	0.000002	D	0.85725	0.5763	M	0.84846	2.72	0.51767	D	0.999937	D	0.89917	1.0	D	0.77557	0.99	D	0.87258	0.2277	10	0.62326	D	0.03	-20.3906	10.9353	0.47241	0.1448:0.7154:0.1397:0.0	.	57	Q9H816	DCR1B_HUMAN	F	57	ENSP00000358576:L57F	ENSP00000358576:L57F	L	+	1	0	DCLRE1B	114249900	0.895000	0.30542	0.998000	0.56505	0.891000	0.51852	1.808000	0.38912	2.609000	0.88269	0.561000	0.74099	CTC		0.587	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		49	226	0	0	0	1	0	49	226					T	114448377	C	T	114448377	3	4	79	1	0	0	0	0	1	0	0	0	4306	681	24	2	171	2	DCLRE1B	1	114448377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3045	114448377	134802244	944	11261											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgcctttgtcgcagcaCtgaagccttgccaggtggtg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCGCAGCACTGAAGCCTTG	0.577								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(865-867)Ctg>Atg	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							104	92	96					1																	114454079		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454079C>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.865C>A	1.37:g.114454079C>A	ENSP00000358576:p.Leu289Met					DCLRE1B_ENST00000466480.1_3'UTR	p.L289M	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1311	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	289					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.865C>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183116	0.78677	.	.	ENSG00000118655	ENST00000369563	T	0.52295	0.67	6.02	5.11	0.69529	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.81614	2.55	0.53005	D	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.68622	-0.5360	10	0.62326	D	0.03	-15.6402	13.2133	0.59839	0.0:0.8685:0.0:0.1315	.	289	Q9H816	DCR1B_HUMAN	M	289	ENSP00000358576:L289M	ENSP00000358576:L289M	L	+	1	2	DCLRE1B	114255602	0.998000	0.40836	0.810000	0.32431	0.985000	0.73830	3.968000	0.56809	1.572000	0.49736	0.655000	0.94253	CTG		0.577	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		16	337	1	0	4.7546e-09	1	4.99022e-09	16	337					A	114454079	C	A	114454079	3	1	79	1	0	0	0	0	1	0	0	0	4306	564	20	3	879	3	DCLRE1B	1	114454079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5702	114454079	134796542	945	11262											
HIPK1	204851	broad.mit.edu	37	chr1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatgctgcaaaacaggaCtgtggtgggtgctgctgcca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	151					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAGGACTGTGGTGGGT	0.493																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(451-453)aCt>aAt		homeodomain interacting protein kinase 1							57	55	56					1																	114483457		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483457C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.452C>A	1.37:g.114483457C>A	ENSP00000358571:p.Thr151Asn					HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N	p.T151N			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	684	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	151					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.452C>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380664	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.72;0.73;0.73;0.72;0.74	5.44	5.44	0.79542	.	0.088954	0.46758	D	0.000261	T	0.21718	0.0523	N	0.11560	0.145	0.80722	D	1	B;P	0.38167	0.072;0.621	B;B	0.39971	0.059;0.315	T	0.08289	-1.0729	10	0.24483	T	0.36	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	151;151	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	222;151;151;151;151;151;151	ENSP00000407442:T222N;ENSP00000358572:T151N;ENSP00000409673:T151N;ENSP00000358567:T151N;ENSP00000358568:T151N;ENSP00000358571:T151N;ENSP00000358574:T151N	ENSP00000358567:T151N	T	+	2	0	HIPK1	114284980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.546000	0.85860	0.650000	0.86243	ACT		0.493	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		50	223	1	0	1.47857e-17	1	1.63348e-17	50	223					A	114483457	C	A	114483457	3	1	79	1	0	0	0	0	1	0	0	0	7146	565	20	3	454	3	HIPK1	1	114483457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29378	114483457	134767164	946	11263											
TRIM33	51592	broad.mit.edu	37	chr1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctcctccaatccttgccGacctgtgcatgaggcttcga	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	871					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCTTGCCGACCTGTGCAT	0.468			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2611-2613)tCg>tTg		tripartite motif containing 33							221	197	205					1																	114948188		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948188G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2612C>T	1.37:g.114948188G>A	ENSP00000351250:p.Ser871Leu					TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L	p.S871L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2695	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	871					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2612C>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376244|3.376244	0.61735|0.61735	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77098	.|-0.93;-0.79;-1.07	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Zinc finger, FYVE/PHD-type (1);	.|0.429133	.|0.25801	.|N	.|0.028201	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.32530|0.32530	0.975|0.975	0.48288|0.48288	D|D	0.999627|0.999627	.|P;P;B;P;P	.|0.42692	.|0.7;0.748;0.021;0.787;0.682	.|B;B;B;B;B	.|0.32583	.|0.113;0.104;0.016;0.148;0.07	T|T	0.66571|0.66571	-0.5890|-0.5890	5|10	.|0.49607	.|T	.|0.09	-2.905|-2.905	19.2948|19.2948	0.94118|0.94118	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;503;66;871;871	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	W|L	632|871;871;503	.|ENSP00000351250:S871L;ENSP00000358556:S871L;ENSP00000412077:S503L	.|ENSP00000351250:S871L	R|S	-|-	1|2	2|0	TRIM33|TRIM33	114749711|114749711	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.903000|0.903000	0.53119|0.53119	8.995000|8.995000	0.93534|0.93534	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	CGG|TCG		0.468	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		181	627	0	0	0	1	0	181	627					A	114948188	G	A	114948188	3	1	79	1	0	0	0	0	1	0	0	0	16560	1059	37	1	795	1	TRIM33	1	114948188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464731	114948188	134302433	947	11264											
TRIM33	51592	broad.mit.edu	37	chr1	114968227	114968227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtgctggagtcgaagCtgtgctaagttaatctgtcc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	513					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTCGAAGCTGTGCTAAGT	0.458			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1537-1539)caG>caA		tripartite motif containing 33							343	299	314					1																	114968227		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968227C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1539G>A	1.37:g.114968227C>T						TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	p.Q513Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1622	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	513					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1539G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856383	0.17106	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.23	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-6.7607	10.5993	0.45358	0.0:0.7899:0.0:0.2101	.	.	.	.	N	250	.	.	S	-	2	0	TRIM33	114769750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.200000	0.42724	0.305000	0.22832	-0.157000	0.13467	AGC		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		170	715	0	0	0	1	0	170	715					T	114968227	C	T	114968227	2	4	79	1	0	0	0	0	0	0	0	1	16560	796	28	2		2	TRIM33	1	114968227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20039	114968227	134282394	948	11265											
NRAS	4893	broad.mit.edu	37	chr1	115252229	115252229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgaatggaatcccGtaactcttggccagttcgtg	10	9	2	1	rs368813470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAATCCCGTAACTCTTGG	0.448		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		0				NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(409-411)taC>taT		neuroblastoma RAS viral (v-ras) oncogene homolog		G		1,4405	2.1+/-5.4	0,1,2202	229	177	194		411	-8.4	0.6	1		194	0,8600		0,0,4300	no	coding-synonymous	NRAS	NM_002524.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/190	115252229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115252229G>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.411C>T	1.37:g.115252229G>A		TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Y137Y	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	664	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	137					Q14971|Q15104|Q15282	Silent	SNP	ENST00000369535.4	37	c.411C>T	CCDS877.1																																																																																				0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		30	212	0	0	0	1	0	30	212					A	115252229	G	A	115252229	2	1	79	1	0	0	0	0	0	0	0	1	10682	1140	40	1		1	NRAS	1	115252229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284002	115252229	133998392	949	11266											
CSDE1	7812	broad.mit.edu	37	chr1	115263337	115263337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacctcacctttcatatcGcctgtaaaacaggtacaaag	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000358528.4	-	17	2301	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	625	CSD 8.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATATCGCCTGTAAAAC	0.428																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e17-1		cold shock domain containing E1, RNA-binding							109	90	97					1																	115263337		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115263337G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1874-1C>T	1.37:g.115263337G>A						CSDE1_ENST00000339438.6_Splice_Site_p.G594_splice|CSDE1_ENST00000369530.1_Splice_Site_p.G640_splice|CSDE1_ENST00000261443.5_Splice_Site_p.G594_splice|CSDE1_ENST00000358528.4_Splice_Site_p.G625_splice|CSDE1_ENST00000530886.1_Splice_Site_p.G495_splice|CSDE1_ENST00000534699.1_Splice_Site_p.G625_splice	p.G671_splice	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2391	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	625					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37	c.2011_splice	CCDS30812.1																																																																																				0.428	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Silent	51	221	0	0	0	1	0	51	221					A	115263337	G	A	115263337	5	1	79	1	0	0	0	0	0	0	1	0	3940	1101	38	1	537	1	CSDE1	1	115263337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11108	115263337	133987284	950	11267											
CSDE1	7812	broad.mit.edu	37	chr1	115269646	115269646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatccttccacatccttGgcttgaaaagcaatagtcag	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000358528.4	-	13	1848	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CSDE1_ENST00000438362.2_Silent_p.A520A|CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000261443.5_Silent_p.A443A|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	474	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCCTTGGCTTGAAAAG	0.388																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1558-1560)gcC>gcT		cold shock domain containing E1, RNA-binding							146	127	133					1																	115269646		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115269646G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1422C>T	1.37:g.115269646G>A						CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000261443.5_Silent_p.A443A|CSDE1_ENST00000358528.4_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000534699.1_Silent_p.A474A	p.A520A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1938	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	474			CSD 7.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1560C>T	CCDS30812.1																																																																																				0.388	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		63	247	0	0	0	1	0	63	247					A	115269646	G	A	115269646	2	1	79	1	0	0	0	0	0	0	0	1	3940	1335	47	2		2	CSDE1	1	115269646	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6309	115269646	133980975	951	11268											
CSDE1	7812	broad.mit.edu	37	chr1	115272879	115272879	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggattatgcaaaacctacCttctctttgcctttatttgg	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	ENST00000358528.4	-	12	1782	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	CSDE1_ENST00000438362.2_Splice_Site_p.K498N|CSDE1_ENST00000339438.6_Splice_Site_p.K421N|CSDE1_ENST00000369530.1_Splice_Site_p.K467N|CSDE1_ENST00000534699.1_Splice_Site_p.K452N|CSDE1_ENST00000530886.1_Splice_Site_p.K322N|CSDE1_ENST00000261443.5_Splice_Site_p.K421N|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	452	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACCTACCTTCTCTTTGC	0.373																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e12+1		cold shock domain containing E1, RNA-binding							138	142	141					1																	115272879		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272879C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1356+1G>T	1.37:g.115272879C>A						CSDE1_ENST00000339438.6_Splice_Site_p.K421_splice|CSDE1_ENST00000369530.1_Splice_Site_p.K467_splice|CSDE1_ENST00000261443.5_Splice_Site_p.K421_splice|CSDE1_ENST00000358528.4_Splice_Site_p.K452_splice|CSDE1_ENST00000530886.1_Splice_Site_p.K322_splice|CSDE1_ENST00000534699.1_Splice_Site_p.K452_splice	p.K498_splice	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1872	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	452			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37	c.1494_splice	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412489	0.83340	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.989	D;D;D	0.80764	0.994;0.981;0.978	T	0.68387	-0.5422	8	.	.	.	-10.7055	14.8908	0.70606	0.0:0.9313:0.0:0.0687	.	467;452;498	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	421;498;452;421;322;467;452	.	.	K	-	3	2	CSDE1	115074402	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.448000	0.80631	1.472000	0.48140	0.655000	0.94253	AAG		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Missense_Mutation	36	398	1	0	9.78485e-24	1	1.11444e-23	36	398					A	115272879	C	A	115272879	5	1	79	1	0	0	0	0	0	0	1	0	3940	695	24	3	1076	3	CSDE1	1	115272879	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3233	115272879	133977742	952	11269											
CSDE1	7812	broad.mit.edu	37	chr1	115272969	115272969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacggtgatctgaatgGgaatgaaatgaaaccgtgcc	12	6	1	5	rs147370534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000358528.4	-	12	1692	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000261443.5_Silent_p.S391S|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	422					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTGAATGGGAATGAAATG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16459	0.0		0.001	False		,,,				2504	0.0					ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1402-1404)tcC>tcT		cold shock domain containing E1, RNA-binding							101	107	105					1																	115272969		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272969G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1266C>T	1.37:g.115272969G>A						CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000261443.5_Silent_p.S391S|CSDE1_ENST00000358528.4_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000534699.1_Silent_p.S422S	p.S468S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1782	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	422			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1404C>T	CCDS30812.1																																																																																				0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		84	334	0	0	0	1	0	84	334					A	115272969	G	A	115272969	2	1	79	1	0	0	0	0	0	0	0	1	3940	1219	43	2		2	CSDE1	1	115272969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	115272969	133977652	953	11270											
CSDE1	7812	broad.mit.edu	37	chr1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaaatattaaacctaAcatggtcaccttccagcagg	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000358528.4	-	10	1373	c.947T>C	c.(946-948)gTt>gCt	p.V316A	CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	316	CSD 4; truncated.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAAACCTAACATGGTCACC	0.418																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1084-1086)gTt>gCt		cold shock domain containing E1, RNA-binding							196	191	193					1																	115275328		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115275328A>G		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.947T>C	1.37:g.115275328A>G	ENSP00000351329:p.Val316Ala					CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000358528.4_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A	p.V362A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1463	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	316			CSD 5.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1085T>C	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977568	0.74360	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.114155	0.64402	D	0.000011	T	0.41743	0.1172	L	0.47190	1.495	0.58432	D	0.999999	B;B;P	0.35872	0.189;0.39;0.525	B;B;B	0.34722	0.024;0.092;0.188	T	0.52601	-0.8554	9	0.87932	D	0	-7.1035	16.2903	0.82747	1.0:0.0:0.0:0.0	.	331;316;362	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	285;362;316;285;186;331;316	.	ENSP00000261443:V285A	V	-	2	0	CSDE1	115076851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GTT		0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		21	559	0	0	0	1	0	21	559					G	115275328	A	G	115275328	3	3	79	1	0	0	0	0	1	0	0	0	3940	43	2	4	1493	4	CSDE1	1	115275328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2359	115275328	133975293	954	11271											
TSPAN2	10100	broad.mit.edu	37	chr1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacatggtctgaacatgtcGgatagcctgaagaaatacaa	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	118			R -> L (in dbSNP:rs9659602).		astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418																																						ENST00000369516.2																			0				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(352-354)Cga>Tga		tetraspanin 2							195	182	186					1																	115601596		2203	4300	6503	SO:0001587	stop_gained	10100					integral to membrane		g.chr1:115601596G>A	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.352C>T	1.37:g.115601596G>A	ENSP00000358529:p.Arg118*					TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	p.R118*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	383	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	118		R -> L (in dbSNP:rs9659602).			D6PTH4|Q5TET2|Q8WU05	Nonsense_Mutation	SNP	ENST00000369516.2	37	c.352C>T	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780335	0.49891	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.8	4.87	0.63330	.	0.441004	0.26176	N	0.025888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.1783	0.37125	0.0:0.1415:0.5664:0.2921	.	.	.	.	X	118;93;112;118	.	ENSP00000358527:R118X	R	-	1	2	TSPAN2	115403119	0.952000	0.32445	0.749000	0.31150	0.161000	0.22273	2.305000	0.43664	1.424000	0.47217	0.655000	0.94253	CGA		0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		159	545	0	0	0	1	0	159	545					A	115601596	G	A	115601596	4	1	79	1	0	0	0	0	0	1	0	0	16697	1124	39	1	329	1	TSPAN2	1	115601596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326268	115601596	133649025	955	11272											
NGF	4803	broad.mit.edu	37	chr1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtcctgttgaagggggCagcaccaccgacctcgaagt	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	111					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(331-333)Gcc>Acc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						52	46	48					1																	115829086		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829086C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.331G>A	1.37:g.115829086C>T	ENSP00000358525:p.Ala111Thr					RP4-663N10.1_ENST00000425449.1_RNA	p.A111T	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	499	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	111					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.331G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	5.594	0.294351	0.10567	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.27	-1.42	0.08913	.	1.018970	0.07813	N	0.958416	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16482	-1.0401	10	0.33141	T	0.24	-7.1349	4.6352	0.12521	0.4107:0.3844:0.0:0.2049	.	111	P01138	NGF_HUMAN	T	111	ENSP00000358525:A111T	ENSP00000358525:A111T	A	-	1	0	NGF	115630609	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.400000	0.20932	-0.171000	0.10797	0.467000	0.42956	GCC		0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		45	151	0	0	0	1	0	45	151					T	115829086	C	T	115829086	3	4	79	1	0	0	0	0	1	0	0	0	10437	710	25	2	398	2	NGF	1	115829086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227490	115829086	133421535	956	11273											
NGF	4803	broad.mit.edu	37	chr1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacattgctctctgagtgtgGttccgcctgtatgccgatca	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	20					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(58-60)Cca>Tca		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						126	101	109					1																	115829359		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829359G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.58C>T	1.37:g.115829359G>A	ENSP00000358525:p.Pro20Ser					RP4-663N10.1_ENST00000425449.1_RNA	p.P20S	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	226	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	20					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.58C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121881	0.56613	.	.	ENSG00000134259	ENST00000369512	T	0.64085	-0.08	5.36	2.37	0.29283	.	0.115420	0.64402	D	0.000017	T	0.39279	0.1072	L	0.56280	1.765	0.42726	D	0.993697	B	0.10296	0.003	B	0.11329	0.006	T	0.43393	-0.9394	10	0.59425	D	0.04	-2.5373	10.2581	0.43410	0.0725:0.2513:0.6762:0.0	.	20	P01138	NGF_HUMAN	S	20	ENSP00000358525:P20S	ENSP00000358525:P20S	P	-	1	0	NGF	115630882	1.000000	0.71417	0.882000	0.34594	0.722000	0.41435	3.015000	0.49599	0.614000	0.30107	0.467000	0.42956	CCA		0.512	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		49	327	0	0	0	1	0	49	327					A	115829359	G	A	115829359	3	1	79	1	0	0	0	0	1	0	0	0	10437	1261	44	2	671	2	NGF	1	115829359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273	115829359	133421262	957	11274											
VANGL1	81839	broad.mit.edu	37	chr1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtacctcagtgcgggccCcaccctgcaatatgacaagg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	449					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTGCGGGCCCCACCCTGCAA	0.542																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1345-1347)cCc>cTc		VANGL planar cell polarity protein 1							88	76	80					1																	116233771		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116233771C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1346C>T	1.37:g.116233771C>T	ENSP00000347672:p.Pro449Leu					VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L|VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.3_Missense_Mutation_p.P447L	p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1617	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	449					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1346C>T	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996543	0.93167	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94849	0.8012	10	0.54805	T	0.06	-16.6377	18.5856	0.91188	0.0:1.0:0.0:0.0	.	447;449	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	449;447;449;449	ENSP00000347672:P449L;ENSP00000358523:P447L;ENSP00000310800:P449L;ENSP00000358522:P449L	ENSP00000310800:P449L	P	+	2	0	VANGL1	116035294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.617000	0.88574	0.655000	0.94253	CCC		0.542	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			40	211	0	0	0	1	0	40	211					T	116233771	C	T	116233771	3	4	79	1	0	0	0	0	1	0	0	0	17173	623	22	2	1372	2	VANGL1	1	116233771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404412	116233771	133016850	958	11275											
SLC22A15	55356	broad.mit.edu	37	chr1	116562216	116562216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctagtggtttttaattgCcaacagatcctacaaagtca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116562216C>T	ENST00000369503.4	+	3	444	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V|RP11-159M11.2_ENST00000453128.1_RNA	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	105					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTTTAATTGCCAACAGATCC	0.378																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(313-315)gCc>gTc		solute carrier family 22, member 15							145	122	129					1																	116562216		1828	4089	5917	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116562216C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.314C>T	1.37:g.116562216C>T	ENSP00000358515:p.Ala105Val					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V	p.A105V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	3	444	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	105					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.314C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576599	0.45902	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76709	-1.04;-0.46	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.229842	0.46442	D	0.000283	T	0.48995	0.1531	N	0.08118	0	0.31911	N	0.61465	B;B	0.30741	0.293;0.153	B;B	0.34652	0.187;0.086	T	0.58679	-0.7594	10	0.87932	D	0	.	12.5588	0.56269	0.0:0.7822:0.2178:0.0	.	105;105	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	105	ENSP00000358515:A105V;ENSP00000358514:A105V	ENSP00000358514:A105V	A	+	2	0	SLC22A15	116363739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.662000	0.54510	2.731000	0.93534	0.655000	0.94253	GCC		0.378	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		8	85	0	0	0	1	0	8	85					T	116562216	C	T	116562216	3	4	79	1	0	0	0	0	1	0	0	0	14496	739	26	2	324	2	SLC22A15	1	116562216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328445	116562216	132688405	959	11276											
SLC22A15	55356	broad.mit.edu	37	chr1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgactcccaattgcaggtTtgtgtgcagcttggtgtatt	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	316					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATTGCAGGTTTGTGTGCAGC	0.443																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(946-948)tTt>tGt		solute carrier family 22, member 15							183	172	175					1																	116577810		1936	4154	6090	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577810T>G	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.947T>G	1.37:g.116577810T>G	ENSP00000358515:p.Phe316Cys					SLC22A15_ENST00000481127.1_3'UTR	p.F316C	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1077	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	316					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.947T>G	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729028	0.69074	.	.	ENSG00000163393	ENST00000369503	T	0.63580	-0.05	5.76	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054834	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81179	2.53	0.80722	D	1	P	0.35894	0.526	B	0.40982	0.345	T	0.67722	-0.5597	10	0.72032	D	0.01	.	11.8102	0.52179	0.1313:0.0:0.0:0.8687	.	316	Q8IZD6	S22AF_HUMAN	C	316	ENSP00000358515:F316C	ENSP00000358515:F316C	F	+	2	0	SLC22A15	116379333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.529000	0.60588	2.198000	0.70561	0.528000	0.53228	TTT		0.443	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		79	312	0	0	0	1	0	79	312					G	116577810	T	G	116577810	3	3	79	1	0	0	0	0	1	0	0	0	14496	1841	64	4	973	4	SLC22A15	1	116577810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15594	116577810	132672811	960	11277											
ATP1A1	476	broad.mit.edu	37	chr1	116930090	116930090	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagcatccaagctgctacaGaagaggaacctcaaaacgat	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116930090G>T	ENST00000295598.5	+	4	616	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E122*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	122					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCTGCTACAGAAGAGGAACC	0.423																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(364-366)Gaa>Taa		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						91	87	88					1																	116930090		2203	4300	6503	SO:0001587	stop_gained	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116930090G>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.364G>T	1.37:g.116930090G>T	ENSP00000295598:p.Glu122*					ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000295598.5_Nonsense_Mutation_p.E122*	p.E122*	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	4	727	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	122					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Nonsense_Mutation	SNP	ENST00000295598.5	37	c.364G>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	41	8.618993	0.98888	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	.	.	.	X	91;122;122;91;121;91	.	ENSP00000295598:E122X	E	+	1	0	ATP1A1	116731613	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	9.657000	0.98554	2.773000	0.95371	0.655000	0.94253	GAA		0.423	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		13	393	1	0	9.31168e-06	1	9.55451e-06	13	393					T	116930090	G	T	116930090	4	4	79	1	0	0	0	0	0	1	0	0	1129	943	33	3	394	3	ATP1A1	1	116930090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352280	116930090	132320531	961	11278											
ATP1A1	476	broad.mit.edu	37	chr1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggtggtgcagtgggccGacttggtcatctgtaagacc	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000295598.5	+	20	3049	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	933					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2797-2799)Gac>Aac		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						90	82	85					1																	116943830		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943830G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2797G>A	1.37:g.116943830G>A	ENSP00000295598:p.Asp933Asn					ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D933N	p.D933N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	20	3160	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	933					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2797G>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709734	0.96821	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.59967	1.855	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.846;0.905	D	0.95486	0.8565	10	0.56958	D	0.05	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	933;933	F5H3A1;P05023	.;AT1A1_HUMAN	N	933;102;933;902;100	ENSP00000295598:D933N;ENSP00000445306:D933N;ENSP00000358508:D902N;ENSP00000396236:D100N	ENSP00000295598:D933N	D	+	1	0	ATP1A1	116745353	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAC		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		14	186	0	0	0	1	0	14	186					A	116943830	G	A	116943830	3	1	79	1	0	0	0	0	1	0	0	0	1129	1058	37	1	2891	1	ATP1A1	1	116943830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13740	116943830	132306791	962	11279											
CD58	965	broad.mit.edu	37	chr1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtacattataagtcctcGatggctgttgtaatgctctg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000369489.5	-	3	520	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000457047.2_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	152					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATAAGTCCTCGATGGCTGTTG	0.373																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(454-456)Cga>Tga		CD58 molecule							106	99	102					1																	117078761		2203	4300	6503	SO:0001587	stop_gained	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078761G>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.454C>T	1.37:g.117078761G>A	ENSP00000358501:p.Arg152*					CD58_ENST00000369489.5_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	p.R152*	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	507	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	152			Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	ENST00000369489.5	37	c.454C>T	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235409	0.39498	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.36	-6.71	0.01760	.	13.333200	0.00829	N	0.001654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	14.9149	7.5945	0.28039	0.0:0.3752:0.2014:0.4234	.	.	.	.	X	152	.	ENSP00000358499:R152X	R	-	1	2	CD58	116880284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.392000	0.00241	-1.425000	0.01997	-0.182000	0.12963	CGA		0.373	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		44	170	0	0	0	1	0	44	170					A	117078761	G	A	117078761	4	1	79	1	0	0	0	0	0	1	0	0	3034	1066	37	1	318	1	CD58	1	117078761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134931	117078761	132171860	963	11280											
IGSF3	3321	broad.mit.edu	37	chr1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagggtagaagaagacgAagtagaagagtgcgtcgttg	17	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1128					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGAAGACGAAGTAGAAGAG	0.498																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3382-3384)tTc>tCc		immunoglobulin superfamily, member 3							143	143	143					1																	117120136		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117120136A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3383T>C	1.37:g.117120136A>G	ENSP00000358498:p.Phe1128Ser					IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	p.F1128S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	11	4148	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1128					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3383T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258429	0.80246	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04603	3.6;3.59;3.59	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.47716	1.5	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.32798	-0.9893	10	0.40728	T	0.16	-37.6565	12.5239	0.56075	1.0:0.0:0.0:0.0	.	1128;1148	O75054;A6NJZ6	IGSF3_HUMAN;.	S	1128;1148;1148	ENSP00000358498:F1128S;ENSP00000358495:F1148S;ENSP00000321184:F1148S	ENSP00000321184:F1148S	F	-	2	0	IGSF3	116921659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.403000	0.90208	2.056000	0.61249	0.533000	0.62120	TTC		0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		51	216	0	0	0	1	0	51	216					G	117120136	A	G	117120136	3	3	79	1	0	0	0	0	1	0	0	0	7631	246	9	4	205	4	IGSF3	1	117120136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41375	117120136	132130485	964	11281											
IGSF3	3321	broad.mit.edu	37	chr1	117159032	117159032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagccctccgtgcggtAcaagggtccttcctgaacgg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	ENST00000369486.3	-	3	856	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	31	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCCGTGCGGTACAAGGGTCCT	0.527																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(91-93)Tac>Cac		immunoglobulin superfamily, member 3							17	18	18					1																	117159032		1921	3846	5767	SO:0001583	missense	3321					integral to membrane		g.chr1:117159032A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.91T>C	1.37:g.117159032A>G	ENSP00000358498:p.Tyr31His					IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	856	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	31			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.91T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537755	0.65085	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.424946	0.24710	N	0.036229	T	0.73187	0.3555	M	0.80847	2.515	0.35189	D	0.773203	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79176	-0.1911	10	0.87932	D	0	-26.1169	12.0593	0.53555	1.0:0.0:0.0:0.0	.	31;31	O75054;A6NJZ6	IGSF3_HUMAN;.	H	31	ENSP00000358498:Y31H;ENSP00000358495:Y31H;ENSP00000321184:Y31H	ENSP00000321184:Y31H	Y	-	1	0	IGSF3	116960555	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	4.215000	0.58534	1.932000	0.55993	0.454000	0.30748	TAC		0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		22	189	0	0	0	1	0	22	189					G	117159032	A	G	117159032	3	3	79	1	0	0	0	0	1	0	0	0	7631	391	14	4	3593	4	IGSF3	1	117159032	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38896	117159032	132091589	965	11282											
CD2	914	broad.mit.edu	37	chr1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctaagatgagctTtccatgtaaatttgtagcca	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	3					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(7-9)tTt>tGt		CD2 molecule	Alefacept(DB00092)						122	114	117					1																	117297122		2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297122T>G	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.8T>G	1.37:g.117297122T>G	ENSP00000358490:p.Phe3Cys					CD2_ENST00000369477.1_Missense_Mutation_p.F3C	p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	1	116	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	3					Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.8T>G	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	4.663	0.123267	0.08931	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.84589	-1.87	3.87	2.71	0.32032	.	0.941043	0.08871	N	0.881570	T	0.57315	0.2045	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.79;0.947;0.947	B;B;B	0.44044	0.275;0.436;0.439	T	0.55392	-0.8148	10	0.87932	D	0	-4.8105	6.512	0.22226	0.215:0.0:0.0:0.785	.	3;3;3	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	C	3	ENSP00000358490:F3C	ENSP00000358489:F3C	F	+	2	0	CD2	117098645	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.691000	0.37721	0.624000	0.30286	0.460000	0.39030	TTT		0.438	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		80	334	0	0	0	1	0	80	334					G	117297122	T	G	117297122	3	3	79	1	0	0	0	0	1	0	0	0	2988	1841	64	4	10	4	CD2	1	117297122	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138090	117297122	131953499	966	11283											
CD2	914	broad.mit.edu	37	chr1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtctccaaagagattaCgaatgccttggaaacctggg	11	9	1	1	rs369310866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	28	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(82-84)aCg>aTg		CD2 molecule	Alefacept(DB00092)	C	MET/THR	0,4406		0,0,2203	107	107	107		83	-5.3	0	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	CD2	NM_001767.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	28/352	117297274	2,13004	2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297274C>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.83C>T	1.37:g.117297274C>T	ENSP00000358490:p.Thr28Met					CD2_ENST00000369477.1_Missense_Mutation_p.T28M	p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	191	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	28			Ig-like V-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.83C>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051838	0.07362	0.0	2.33E-4	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82803	-1.65	2.63	-5.27	0.02763	.	6.445950	0.00357	N	0.000022	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.25441	0.0;0.126;0.0	B;B;B	0.19148	0.0;0.024;0.0	T	0.35773	-0.9775	10	0.46703	T	0.11	2.157	1.0468	0.01571	0.2041:0.1478:0.3584:0.2897	.	28;28;28	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	M	28	ENSP00000358490:T28M	ENSP00000358489:T28M	T	+	2	0	CD2	117098797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-2.418000	0.00566	-0.941000	0.02677	ACG		0.413	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		57	463	0	0	0	1	0	57	463					T	117297274	C	T	117297274	3	4	79	1	0	0	0	0	1	0	0	0	2988	536	19	1	89	1	CD2	1	117297274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	117297274	131953347	967	11284											
CD101	9398	broad.mit.edu	37	chr1	117556224	117556224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactacaaagagagagcaagTcaaggagagctccaggtttc	12	8	1	3	rs201248748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	346	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGCAAGTCAAGGAGAGC	0.498																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1036-1038)agT>agC		CD101 molecule							104	103	103					1																	117556224		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117556224T>C	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1038T>C	1.37:g.117556224T>C						CD101_ENST00000369470.1_Silent_p.S346S	p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			4	1096	+			346			Ig-like C2-type 3.		Q15856	Silent	SNP	ENST00000256652.4	37	c.1038T>C	CCDS891.1																																																																																				0.498	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		27	267	0	0	0	1	0	27	267					C	117556224	T	C	117556224	2	2	79	1	0	0	0	0	0	0	0	1	2971	1664	58	4		4	CD101	1	117556224	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	258950	117556224	131694397	968	11285											
CD101	9398	broad.mit.edu	37	chr1	117568492	117568492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaatcaagcatccgatgaGtcacagcggatggtgctcac	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E|RP11-27K13.3_ENST00000421254.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	930					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCCGATGAGTCACAGCGGA	0.532																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2788-2790)gaG>gaA		CD101 molecule							73	67	69					1																	117568492		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117568492G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2790G>A	1.37:g.117568492G>A						RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E	p.E930E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			8	2848	+			930					Q15856	Silent	SNP	ENST00000256652.4	37	c.2790G>A	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		41	228	0	0	0	1	0	41	228					A	117568492	G	A	117568492	2	1	79	1	0	0	0	0	0	0	0	1	2971	1020	36	2		2	CD101	1	117568492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12268	117568492	131682129	969	11286											
TTF2	8458	broad.mit.edu	37	chr1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaagttgatcaaacaAatccaggagctggaggaagt	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	446					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATCAAACAAATCCAGGAGC	0.473																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1336-1338)caA>caC		transcription termination factor, RNA polymerase II							102	96	98					1																	117618864		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618864A>C	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1338A>C	1.37:g.117618864A>C	ENSP00000358478:p.Gln446His						p.Q446H	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	6	1382	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	446					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1338A>C	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031989	0.35893	.	.	ENSG00000116830	ENST00000369466	D	0.88509	-2.39	5.41	1.8	0.24995	.	0.000000	0.36101	N	0.002792	D	0.90580	0.7047	M	0.77103	2.36	0.48135	D	0.999592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-15.3366	7.9556	0.30040	0.6752:0.0:0.3248:0.0	.	446;446	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	H	446	ENSP00000358478:Q446H	ENSP00000358478:Q446H	Q	+	3	2	TTF2	117420387	1.000000	0.71417	0.964000	0.40570	0.023000	0.10783	1.772000	0.38552	0.104000	0.17725	-1.144000	0.01866	CAA		0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			45	185	0	0	0	1	0	45	185					C	117618864	A	C	117618864	3	2	79	1	0	0	0	0	1	0	0	0	16773	11	1	4	1360	4	TTF2	1	117618864	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50372	117618864	131631757	970	11287											
TRIM45	80263	broad.mit.edu	37	chr1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttctttgatgcagacCcacacagtatagacgccagg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	480					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(1438-1440)tgG>tgT		tripartite motif containing 45							249	208	222					1																	117658224		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117658224C>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1440G>T	1.37:g.117658224C>A	ENSP00000256649:p.Trp480Cys					TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C|TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C	p.W480C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	4	1966	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	480					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1440G>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655905	0.14580	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83755	-1.76;-1.76;-1.76	4.91	2.95	0.34219	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.406040	0.28595	N	0.014782	T	0.52125	0.1715	N	0.10837	0.055	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.51865	-0.8651	10	0.35671	T	0.21	-7.111	12.0408	0.53452	0.0:0.5466:0.4534:0.0	.	462;480	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	C	480;462;423	ENSP00000256649:W480C;ENSP00000358476:W462C;ENSP00000358473:W423C	ENSP00000256649:W480C	W	-	3	0	TRIM45	117459747	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.562000	0.45914	1.292000	0.44672	0.563000	0.77884	TGG		0.488	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		29	337	1	0	5.90632e-09	1	6.19411e-09	29	337					A	117658224	C	A	117658224	3	1	79	1	0	0	0	0	1	0	0	0	16573	624	22	3	314	3	TRIM45	1	117658224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39360	117658224	131592397	971	11288											
VTCN1	79679	broad.mit.edu	37	chr1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggtattggagacttccgaGaagttggctccctggtcaac	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517																																						ENST00000369458.3																			1	Substitution - Missense(1)	p.F191L(1)	large_intestine(1)	large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(571-573)ttC>ttA		V-set domain containing T cell activation inhibitor 1							108	102	104					1																	117695864		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117695864G>T	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.573C>A	1.37:g.117695864G>T	ENSP00000358470:p.Phe191Leu					VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR	p.F191L	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	4	651	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	191			Ig-like V-type 2.			Missense_Mutation	SNP	ENST00000369458.3	37	c.573C>A	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	VTCN1	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC		0.517	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		37	400	1	0	4.65686e-17	1	5.13078e-17	37	400					T	117695864	G	T	117695864	3	4	79	1	0	0	0	0	1	0	0	0	17288	933	33	3	283	3	VTCN1	1	117695864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37640	117695864	131554757	972	11289											
MAN1A2	10905	broad.mit.edu	37	chr1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagataatgacataagaGagaaaagggaaaaaattaaa	9	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	179					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGACATAAGAGAGAAAAGGGA	0.358																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(535-537)Gag>Aag		mannosidase, alpha, class 1A, member 2							63	66	65					1																	117945040		2203	4296	6499	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117945040G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.535G>A	1.37:g.117945040G>A	ENSP00000348959:p.Glu179Lys					MAN1A2_ENST00000482811.1_Intron	p.E179K	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1270	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	179					Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.535G>A	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146089	0.37923	.	.	ENSG00000198162	ENST00000356554	D	0.83673	-1.75	5.76	-3.91	0.04168	.	0.499176	0.22515	N	0.059058	T	0.59851	0.2224	L	0.49126	1.545	0.47621	D	0.999476	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.33141	T	0.24	-0.5461	10.915	0.47131	0.169:0.1246:0.7064:0.0	.	179	O60476	MA1A2_HUMAN	K	179	ENSP00000348959:E179K	ENSP00000348959:E179K	E	+	1	0	MAN1A2	117746563	1.000000	0.71417	0.055000	0.19348	0.909000	0.53808	2.466000	0.45084	-0.759000	0.04684	-0.136000	0.14681	GAG		0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		55	238	0	0	0	1	0	55	238					A	117945040	G	A	117945040	3	1	79	1	0	0	0	0	1	0	0	0	9252	943	33	2	541	2	MAN1A2	1	117945040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249176	117945040	131305581	973	11290											
FAM46C	54855	broad.mit.edu	37	chr1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcaaaaccacttcGctgaagaagagagaagcaag	8	10	1	4	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			G|||	2	0.000399361	0.0	0.0	5008	,	,		22136	0.0		0.002	False		,,,				2504	0.0					ENST00000369448.3				Rec	yes		1	1p12	54855	"Mis, F, O"	"family with sequence similarity 46, member C"			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(889-891)Gct>Act		family with sequence similarity 46, member C		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	115	110	112		889	4.8	0.8	1	dbSNP_134	112	18,8582	14.6+/-50.1	0,18,4282	yes	missense	FAM46C	NM_017709.3	58	0,22,6481	AA,AG,GG		0.2093,0.0908,0.1692	benign	297/392	118166379	22,12984	2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166379G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.889G>A	1.37:g.118166379G>A	ENSP00000358458:p.Ala297Thr	Multiple Myeloma(3;1.13e-06)					p.A297T	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1136	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	297					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.889G>A	CCDS896.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	6.588	0.476815	0.12521	9.08E-4	0.002093	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.7	4.78	0.61160	Domain of unknown function DUF1693 (1);	0.501193	0.19639	N	0.109500	T	0.05914	0.0154	L	0.42245	1.32	0.23445	N	0.997669	B	0.23591	0.088	B	0.20577	0.03	T	0.28808	-1.0032	10	0.20519	T	0.43	-12.3519	7.4156	0.27042	0.0774:0.0:0.6044:0.3182	.	297	Q5VWP2	FA46C_HUMAN	T	297	ENSP00000358458:A297T	ENSP00000358458:A297T	A	+	1	0	FAM46C	117967902	0.961000	0.32948	0.800000	0.32199	0.958000	0.62258	2.228000	0.42981	1.381000	0.46364	0.655000	0.94253	GCT		0.512	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		49	197	0	0	0	1	0	49	197					A	118166379	G	A	118166379	3	1	79	1	0	0	0	0	1	0	0	0	5592	1087	38	1	891	1	FAM46C	1	118166379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221339	118166379	131084242	974	11291											
GDAP2	54834	broad.mit.edu	37	chr1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaccttctggagcaccaGgtttctcacttattctaatc	5	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	261					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(781-783)cCt>cAt		ganglioside induced differentiation associated protein 2							156	156	156					1																	118441693		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441693G>T	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.782C>A	1.37:g.118441693G>T	ENSP00000358451:p.Pro261His					GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	1031	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	261					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.782C>A	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566958	0.65651	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.3;1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69709	-0.5072	10	0.87932	D	0	-14.751	19.6366	0.95736	0.0:0.0:1.0:0.0	.	261;261	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	261	ENSP00000358451:P261H;ENSP00000358450:P261H	ENSP00000358450:P261H	P	-	2	0	GDAP2	118243216	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.046000	0.93817	2.643000	0.89663	0.585000	0.79938	CCT		0.433	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		62	593	1	0	3.07184e-27	1	3.5546e-27	62	593					T	118441693	G	T	118441693	3	4	79	1	0	0	0	0	1	0	0	0	6337	1000	35	3	788	3	GDAP2	1	118441693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275314	118441693	130808928	975	11292											
GDAP2	54834	broad.mit.edu	37	chr1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtagcagcttttggtaagTaccctgtgtcagaaaagcaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	214	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGGTAAGTACCCTGTGTC	0.423																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(640-642)Act>Gct		ganglioside induced differentiation associated protein 2							112	100	104					1																	118441835		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441835T>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.640A>G	1.37:g.118441835T>C	ENSP00000358451:p.Thr214Ala					GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	889	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	214			Macro.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.640A>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117044	0.37339	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.20332	2.08;2.08	5.44	3.12	0.35913	Appr-1-p processing (1);	0.253796	0.46442	D	0.000283	T	0.02230	0.0069	N	0.02916	-0.46	0.36223	D	0.852104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.12103	T	0.63	-5.7334	8.8728	0.35327	0.0:0.2142:0.0:0.7858	.	214;214	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	A	214	ENSP00000358451:T214A;ENSP00000358450:T214A	ENSP00000358450:T214A	T	-	1	0	GDAP2	118243358	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.999000	0.40806	0.375000	0.24679	-0.361000	0.07541	ACT		0.423	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		52	424	0	0	0	1	0	52	424					C	118441835	T	C	118441835	3	2	79	1	0	0	0	0	1	0	0	0	6337	1638	57	4	930	4	GDAP2	1	118441835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	118441835	130808786	976	11293											
GDAP2	54834	broad.mit.edu	37	chr1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattttgcttcacctgttcGgcaccctgaaaacaatggaa	7	11	1	1	rs200761394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	108	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(322-324)Cga>Tga		ganglioside induced differentiation associated protein 2							108	100	103					1																	118455300		2203	4300	6503	SO:0001587	stop_gained	54834							g.chr1:118455300G>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.322C>T	1.37:g.118455300G>A	ENSP00000358451:p.Arg108*					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	4	571	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	108			Macro.		Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	37	c.322C>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844187	0.97016	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.9	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2636	14.3031	0.66368	0.0:0.0:0.6772:0.3228	.	.	.	.	X	108	.	ENSP00000358450:R108X	R	-	1	2	GDAP2	118256823	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.369000	0.66138	1.470000	0.48102	0.585000	0.79938	CGA		0.398	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		73	332	0	0	0	1	0	73	332					A	118455300	G	A	118455300	4	1	79	1	0	0	0	0	0	1	0	0	6337	1124	39	1	1260	1	GDAP2	1	118455300	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13465	118455300	130795321	977	11294											
GDAP2	54834	broad.mit.edu	37	chr1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attataaagaaaaggtgatcGaacagtgtcttcctgaaata	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	43	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(127-129)Cga>Tga		ganglioside induced differentiation associated protein 2							99	99	99					1																	118462854		2203	4300	6503	SO:0001587	stop_gained	54834							g.chr1:118462854G>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.127C>T	1.37:g.118462854G>A	ENSP00000358451:p.Arg43*					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	2	376	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	43			Macro.		Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	37	c.127C>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	GDAP2	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA		0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		32	307	0	0	0	1	0	32	307					A	118462854	G	A	118462854	4	1	79	1	0	0	0	0	0	1	0	0	6337	1066	37	1	1463	1	GDAP2	1	118462854	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7554	118462854	130787767	978	11295											
WDR3	10885	broad.mit.edu	37	chr1	118492397	118492397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgtgacaggtggtgcAgataaatctgtcaaattctg	12	6	3	2	rs111307478	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	516						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1546-1548)gcA>gcG		WD repeat domain 3							88	89	89					1																	118492397		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118492397A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1548A>G	1.37:g.118492397A>G							p.A516A	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	14	1595	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	516						Silent	SNP	ENST00000349139.5	37	c.1548A>G	CCDS898.1																																																																																				0.313	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		56	227	0	0	0	1	0	56	227					G	118492397	A	G	118492397	2	3	79	1	0	0	0	0	0	0	0	1	17339	175	7	4		4	WDR3	1	118492397	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29543	118492397	130758224	979	11296											
WDR3	10885	broad.mit.edu	37	chr1	118495213	118495213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactatgttgtatcatcGtcccatgacaaatctctgag	9	9	2	3	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	693						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2077-2079)tcG>tcA		WD repeat domain 3		G		1,4405	2.1+/-5.4	0,1,2202	103	103	103		2079	-11.1	0.4	1	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WDR3	NM_006784.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		693/944	118495213	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118495213G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2079G>A	1.37:g.118495213G>A							p.S693S	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	19	2126	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	693						Silent	SNP	ENST00000349139.5	37	c.2079G>A	CCDS898.1																																																																																				0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		115	411	0	0	0	1	0	115	411					A	118495213	G	A	118495213	2	1	79	1	0	0	0	0	0	0	0	1	17339	1132	40	1		1	WDR3	1	118495213	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2816	118495213	130755408	980	11297											
WDR3	10885	broad.mit.edu	37	chr1	118501532	118501532	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttttgtttttctatcaGgattcactttggacagatca	8	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.e26-1		WD repeat domain 3							84	81	82					1																	118501532		2203	4300	6503	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118501532G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2583-1G>T	1.37:g.118501532G>T						SPAG17_ENST00000336338.5_Intron		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	26	2629	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Splice_Site	SNP	ENST00000349139.5	37		CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474166	0.63737	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6756	0.95930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118303055	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.330000	0.96422	2.664000	0.90586	0.543000	0.68304	.		0.383	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Intron	23	263	1	0	1.96895e-08	1	2.05624e-08	23	263					T	118501532	G	T	118501532	5	4	79	1	0	0	0	0	0	0	1	0	17339	1014	35	3	2680	3	WDR3	1	118501532	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6319	118501532	130749089	981	11298											
SPAG17	200162	broad.mit.edu	37	chr1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctttctccttcttgggtGccatgcaaaggacgggagaa	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		CTTCTTGGGTGCCATGCAAAG	0.552																																						ENST00000336338.5																			0				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						c.(4-6)gCa>gTa		sperm associated antigen 17							147	134	139					1																	118727776		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118727776G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5C>T	1.37:g.118727776G>A	ENSP00000337804:p.Ala2Val						p.A2V	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	1	70	-	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)	2					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626553	0.66901	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	4.88	4.88	0.63580	.	0.398250	0.24698	N	0.036340	T	0.21841	0.0526	N	0.22421	0.69	0.33507	D	0.590619	D	0.89917	1.0	D	0.87578	0.998	T	0.02477	-1.1153	10	0.59425	D	0.04	.	13.7149	0.62691	0.0:0.0:1.0:0.0	.	2	Q6Q759	SPG17_HUMAN	V	2	ENSP00000337804:A2V	ENSP00000337804:A2V	A	-	2	0	SPAG17	118529299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.482000	0.45224	2.699000	0.92147	0.555000	0.69702	GCA		0.552	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		134	475	0	0	0	1	0	134	475					A	118727776	G	A	118727776	3	1	79	1	0	0	0	0	1	0	0	0	15031	1319	46	2	6858	2	SPAG17	1	118727776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226244	118727776	130522845	982	11299											
TBX15	6913	broad.mit.edu	37	chr1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaccccagctggccacCgtaggcttccatcttgctgt	10	14	1	0	rs370477009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15	466					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTGGCCACCGTAGGCTTCC	0.567																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1396-1398)Ggt>Agt		T-box 15		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	63	57	59		1078	5.3	1	1		59	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	360/497	119427768	1,13005	2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427768C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1396G>A	1.37:g.119427768C>T	ENSP00000358437:p.Gly466Ser					TBX15_ENST00000207157.3_Missense_Mutation_p.G360S	p.G466S			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1405	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	466					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1396G>A		.	.	.	.	.	.	.	.	.	.	C	6.700	0.497869	0.12762	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.86497	-2.13;-2.03;-0.92	5.31	5.31	0.75309	.	0.169902	0.52532	D	0.000061	T	0.33933	0.0880	N	0.00841	-1.15	0.38949	D	0.958302	P;B	0.36412	0.552;0.027	B;B	0.22753	0.041;0.003	T	0.63883	-0.6536	10	0.02654	T	1	.	6.3764	0.21509	0.0:0.7909:0.0:0.2091	.	263;466	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	263;360;466;194	ENSP00000207157:G360S;ENSP00000358437:G466S;ENSP00000398625:G194S	ENSP00000207157:G360S	G	-	1	0	TBX15	119229291	0.337000	0.24766	0.967000	0.41034	0.748000	0.42578	0.911000	0.28584	2.768000	0.95171	0.561000	0.74099	GGT		0.567	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		26	228	0	0	0	1	0	26	228					T	119427768	C	T	119427768	3	4	79	1	0	0	0	0	1	0	0	0	15704	652	23	1	416	1	TBX15	1	119427768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	699992	119427768	129822853	983	11300											
TBX15	6913	broad.mit.edu	37	chr1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccaatatcatggaaccGcttccagaggtcagcacatt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15	125					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATGGAACCGCTTCCAGAGG	0.507																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(373-375)Cgg>Tgg		T-box 15							98	87	91					1																	119474288		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474288G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.373C>T	1.37:g.119474288G>A	ENSP00000358437:p.Arg125Trp					TBX15_ENST00000207157.3_Missense_Mutation_p.R19W	p.R125W			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	382	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	125					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	G	17.98	3.521076	0.64747	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.88586	-2.4;-2.4	5.97	2.19	0.27852	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.049918	0.85682	D	0.000000	D	0.93706	0.7989	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94414	0.7634	10	0.87932	D	0	.	13.4602	0.61223	0.0:0.0:0.3887:0.6113	.	125	Q96SF7	TBX15_HUMAN	W	19;125	ENSP00000207157:R19W;ENSP00000358437:R125W	ENSP00000207157:R19W	R	-	1	2	TBX15	119275811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.349000	0.33998	0.492000	0.27815	-0.485000	0.04761	CGG		0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		23	161	0	0	0	1	0	23	161					A	119474288	G	A	119474288	3	1	79	1	0	0	0	0	1	0	0	0	15704	1086	38	1	1463	1	TBX15	1	119474288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46520	119474288	129776333	984	11301											
HAO2	51179	broad.mit.edu	37	chr1	119923708	119923708	+	5'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttggaaggtccagaAatgtccttggtgtgtttgac	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119923708A>C	ENST00000325945.3	+	0	73				HAO2_ENST00000361035.4_Missense_Mutation_p.E13D	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AAGGTCCAGAAATGTCCTTGG	0.453																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(37-39)gaA>gaC		hydroxyacid oxidase 2 (long chain)							177	170	172					1																	119923708		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119923708A>C	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.-1A>C	1.37:g.119923708A>C						HAO2_ENST00000325945.3_5'UTR	p.E13D	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	3	322	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	0			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.39A>C	CCDS901.1	.	.	.	.	.	.	.	.	.	.	A	8.040	0.763721	0.15914	.	.	ENSG00000116882	ENST00000361035	T	0.30182	1.54	5.4	3.02	0.34903	.	0.798993	0.10999	N	0.610682	T	0.15262	0.0368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17410	-1.0370	6	.	.	.	-8.5004	5.014	0.14326	0.7215:0.0:0.1439:0.1346	.	.	.	.	D	13	ENSP00000354314:E13D	.	E	+	3	2	HAO2	119725231	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	1.749000	0.38319	0.333000	0.23563	0.533000	0.62120	GAA		0.453	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		65	661	0	0	0	1	0	65	661					C	119923708	A	C	119923708	1	2	79	0	1	0	0	0	0	0	0	0	6982	29	1	4		4	HAO2	1	119923708	5'UTR	SNP	A	TCGA-IB-7651-01A-11D-2154-08	449420	119923708	129326913	985	11302											
HAO2	51179	broad.mit.edu	37	chr1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttcctatagggaaatgCaataccttatttccagatga	6	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000325945.3	+	5	642	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HAO2_ENST00000361035.4_Missense_Mutation_p.A203V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	190	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(607-609)gCa>gTa		hydroxyacid oxidase 2 (long chain)							104	102	102					1																	119929252		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119929252C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.569C>T	1.37:g.119929252C>T	ENSP00000316339:p.Ala190Val					HAO2_ENST00000325945.3_Missense_Mutation_p.A190V	p.A203V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	6	891	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	190			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.608C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031455	0.35797	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.29397	1.57;1.57;1.57	5.13	3.15	0.36227	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.938027	0.08845	N	0.885294	T	0.06962	0.0177	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40175	-0.9577	9	.	.	.	2.527	6.806	0.23779	0.0:0.6969:0.1417:0.1614	.	190	Q9NYQ3	HAOX2_HUMAN	V	165;203;190	ENSP00000393955:A165V;ENSP00000354314:A203V;ENSP00000316339:A190V	.	A	+	2	0	HAO2	119730775	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.505000	0.22642	0.664000	0.31047	0.655000	0.94253	GCA		0.428	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		76	279	0	0	0	1	0	76	279					T	119929252	C	T	119929252	3	4	79	1	0	0	0	0	1	0	0	0	6982	710	25	2	583	2	HAO2	1	119929252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5544	119929252	129321369	986	11303											
HSD3B1	3283	broad.mit.edu	37	chr1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtcaagtgttggaaagttCtccactgttaacccagtcta	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000369413.3	+	4	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	218					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(658-660)ttC>ttA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						88	89	89					1																	120056800		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056800C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.654C>A	1.37:g.120056800C>A	ENSP00000358421:p.Phe218Leu					HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L|HSD3B1_ENST00000369413.3_Missense_Mutation_p.F218L	p.F220L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	799	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	218					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.660C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090709	0.07053	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.26	0.122	0.14702	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.380111	0.29205	N	0.012833	T	0.70868	0.3273	M	0.75264	2.295	0.09310	N	1	B;P	0.41673	0.257;0.759	B;B	0.40702	0.216;0.338	T	0.63611	-0.6598	10	0.18710	T	0.47	-16.7946	4.638	0.12534	0.0:0.5732:0.1895:0.2373	.	220;218	Q5TDG2;P14060	.;3BHS1_HUMAN	L	218;220;218	ENSP00000358421:F218L;ENSP00000235547:F220L;ENSP00000432268:F218L	ENSP00000235547:F220L	F	+	3	2	HSD3B1	119858323	0.983000	0.35010	0.009000	0.14445	0.271000	0.26615	0.412000	0.21131	0.170000	0.19704	0.313000	0.20887	TTC		0.527	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		109	376	1	0	4.98428e-49	1	6.16141e-49	109	376					A	120056800	C	A	120056800	3	1	79	1	0	0	0	0	1	0	0	0	7420	912	32	3	664	3	HSD3B1	1	120056800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127548	120056800	129193821	987	11304											
HSD3B1	3283	broad.mit.edu	37	chr1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttctcttataagaaggCtcagcgagatctggcgtata	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000369413.3	+	4	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	334					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1006-1008)gCt>gTt		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						102	91	95					1																	120057147		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057147C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1001C>T	1.37:g.120057147C>T	ENSP00000358421:p.Ala334Val					HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A334V	p.A336V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1146	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	334					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.1007C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277993	0.59758	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.90955	-2.76;-2.76;-2.76	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.96505	0.9374	10	0.87932	D	0	-7.6718	12.346	0.55122	0.0:1.0:0.0:0.0	.	336;334	Q5TDG2;P14060	.;3BHS1_HUMAN	V	334;336;334	ENSP00000358421:A334V;ENSP00000235547:A336V;ENSP00000432268:A334V	ENSP00000235547:A336V	A	+	2	0	HSD3B1	119858670	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.157000	0.77461	1.799000	0.52666	0.313000	0.20887	GCT		0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		49	370	0	0	0	1	0	49	370					T	120057147	C	T	120057147	3	4	79	1	0	0	0	0	1	0	0	0	7420	797	28	2	1011	2	HSD3B1	1	120057147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	120057147	129193474	988	11305											
ZNF697	90874	broad.mit.edu	37	chr1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtgcgaacggcgcaCgaagcccttgccgcactccc	13	17	0	0	rs373089415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746																																						ENST00000421812.2																			0				ovary(2)	2						c.(1087-1089)Gtg>Atg		zinc finger protein 697		C	MET/VAL	0,4336		0,0,2168	8	8	8		1087	2.6	1	1		8	1,8495		0,1,4247	no	missense	ZNF697	NM_001080470.1	21	0,1,6415	TT,TC,CC		0.0118,0.0,0.0078	benign	363/546	120165879	1,12831	2168	4248	6416	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165879C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1087G>A	1.37:g.120165879C>T	ENSP00000396857:p.Val363Met						p.V363M	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1206	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	363					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1087G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	1.888	-0.456263	0.04540	0.0	1.18E-4	ENSG00000143067	ENST00000421812	T	0.35605	1.3	4.51	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.41124	1.26	0.24537	N	0.994083	B	0.29253	0.239	B	0.14023	0.01	T	0.14476	-1.0471	9	0.44086	T	0.13	.	4.7023	0.12832	0.1763:0.6254:0.0:0.1983	.	363	Q5TEC3	ZN697_HUMAN	M	363	ENSP00000396857:V363M	ENSP00000396857:V363M	V	-	1	0	ZNF697	119967402	0.000000	0.05858	1.000000	0.80357	0.004000	0.04260	-0.526000	0.06207	1.039000	0.40074	-0.251000	0.11542	GTG		0.746	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		9	32	0	0	0	1	0	9	32					T	120165879	C	T	120165879	3	4	79	1	0	0	0	0	1	0	0	0	18153	536	19	1	554	1	ZNF697	1	120165879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108732	120165879	129084742	989	11306											
PHGDH	26227	broad.mit.edu	37	chr1	120277277	120277277	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actatagggtatgaccccatCatttccccagaggtctcggc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	ENST00000369409.4	+	6	667	c.531C>T	c.(529-531)atC>atT	p.I177I	PHGDH_ENST00000369407.3_Silent_p.I143I	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	177					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		ATGACCCCATCATTTCCCCAG	0.463																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(427-429)atC>atT		phosphoglycerate dehydrogenase	NADH(DB00157)						207	206	206					1																	120277277		2203	4300	6503	SO:0001819	synonymous_variant	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277277C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.531C>T	1.37:g.120277277C>T						PHGDH_ENST00000369409.4_Silent_p.I177I	p.I143I			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	5	1936	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	177					B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	37	c.429C>T	CCDS904.1																																																																																				0.463	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		123	1134	0	0	0	1	0	123	1134					T	120277277	C	T	120277277	2	4	79	1	0	0	0	0	0	0	0	1	11883	816	29	2		2	PHGDH	1	120277277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111398	120277277	128973344	990	11307											
PHGDH	26227	broad.mit.edu	37	chr1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaactgcctaagccccGcagtcattgtcggcctcctg	11	15	1	0	rs201553627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369409.4	+	10	1253	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A339T|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	373			A -> T (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate). {ECO:0000269|PubMed:19235232}.		brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCTAAGCCCCGCAGTCATTGT	0.567																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1015-1017)Gca>Aca		phosphoglycerate dehydrogenase	NADH(DB00157)						89	82	84					1																	120284428		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120284428G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1117G>A	1.37:g.120284428G>A	ENSP00000358417:p.Ala373Thr					PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.A373T	p.A339T			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	9	2522	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	373					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1015G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843250	0.51057	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.39	4.48	0.54585	.	0.105284	0.64402	D	0.000005	D	0.86703	0.5996	M	0.68952	2.095	0.30683	N	0.752119	D;D;D;D	0.64830	0.982;0.982;0.994;0.99	P;P;P;P	0.57548	0.678;0.678;0.823;0.678	D	0.84014	0.0350	10	0.54805	T	0.06	-8.5858	11.8603	0.52461	0.0855:0.0:0.9145:0.0	.	339;339;246;373	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	T	373;246;339	ENSP00000358417:A373T;ENSP00000358415:A339T	ENSP00000358415:A339T	A	+	1	0	PHGDH	120085951	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	5.700000	0.68318	1.278000	0.44430	-0.136000	0.14681	GCA		0.567	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		40	315	0	0	0	1	0	40	315					A	120284428	G	A	120284428	3	1	79	1	0	0	0	0	1	0	0	0	11883	1087	38	1	1155	1	PHGDH	1	120284428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	120284428	128966193	991	11308											
HMGCS2	3158	broad.mit.edu	37	chr1	120295298	120295298	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttgtccaggggagagcCtgggaagcaaaagcaagatt	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000544913.2_Splice_Site|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)						cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGGGAGAGCCTGGGAAGCAA	0.478																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.e8-1		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							111	111	111					1																	120295298		2203	4300	6503	SO:0001630	splice_region_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120295298C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1295-1G>A	1.37:g.120295298C>T						HMGCS2_ENST00000544913.2_Splice_Site		NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	8	1344	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)						B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Splice_Site	SNP	ENST00000369406.3	37		CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047514	0.55110	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.43	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2131	0.59836	0.0:0.9223:0.0:0.0777	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS2	120096821	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.072000	0.64389	1.416000	0.47057	0.655000	0.94253	.		0.478	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518	Intron	74	354	0	0	0	1	0	74	354					T	120295298	C	T	120295298	5	4	79	1	0	0	0	0	0	0	1	0	7263	695	24	2	240	2	HMGCS2	1	120295298	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10870	120295298	128955323	992	11309											
ADAM30	11085	broad.mit.edu	37	chr1	120438762	120438762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttgccttttaactgCagtaggtaggacacgggact	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	66					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTTTAACTGCAGTAGGTAGG	0.542																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(196-198)ctG>ctA		ADAM metallopeptidase domain 30							86	79	81					1																	120438762		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438762C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.198G>A	1.37:g.120438762C>T							p.L66L	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	356	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	66					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.198G>A	CCDS907.1																																																																																				0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		87	263	0	0	0	1	0	87	263					T	120438762	C	T	120438762	2	4	79	1	0	0	0	0	0	0	0	1	248	697	25	2		2	ADAM30	1	120438762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143464	120438762	128811859	993	11310											
NOTCH2	4853	broad.mit.edu	37	chr1	120458178	120458178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaggaagcataactgtgCtgtgaagggggtgtggggta	18	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2389					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAACTGTGCTGTGAAGGGG	0.582			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7165-7167)caG>caA		notch 2							118	105	109					1																	120458178		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458178C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7167G>A	1.37:g.120458178C>T							p.Q2389Q	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7386	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2389					Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.7167G>A	CCDS908.1																																																																																				0.582	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		57	393	0	0	0	1	0	57	393					T	120458178	C	T	120458178	2	4	79	1	0	0	0	0	0	0	0	1	10590	796	28	2		2	NOTCH2	1	120458178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19416	120458178	128792443	994	11311											
NOTCH2	4853	broad.mit.edu	37	chr1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaggctagtaggcatggTactcttggcactgggccgtc	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2111					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGCATGGTACTCTTGGCA	0.537			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6331-6333)Acc>Gcc		notch 2							127	106	113					1																	120459014		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120459014T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6331A>G	1.37:g.120459014T>C	ENSP00000256646:p.Thr2111Ala						p.T2111A	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6550	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2111					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.6331A>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605717	0.03717	.	.	ENSG00000134250	ENST00000256646	D	0.81499	-1.5	5.71	-3.15	0.05233	.	0.615279	0.13441	N	0.387715	T	0.22399	0.0540	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.08179	T	0.78	.	13.4241	0.61015	0.0:0.4741:0.0:0.5259	.	2111	Q04721	NOTC2_HUMAN	A	2111	ENSP00000256646:T2111A	ENSP00000256646:T2111A	T	-	1	0	NOTCH2	120260537	0.000000	0.05858	0.134000	0.22075	0.927000	0.56198	-0.652000	0.05366	-0.590000	0.05866	0.459000	0.35465	ACC		0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	333	0	0	0	1	0	10	333					C	120459014	T	C	120459014	3	2	79	1	0	0	0	0	1	0	0	0	10590	1638	57	4	1088	4	NOTCH2	1	120459014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	836	120459014	128791607	995	11312											
NOTCH2	4853	broad.mit.edu	37	chr1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctctgtttcttcataGcagctgacttctcaccataa	4	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1599	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCATAGCAGCTGACTT	0.517			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4795-4797)gCt>gAt		notch 2							105	100	102					1																	120466323		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466323G>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4796C>A	1.37:g.120466323G>T	ENSP00000256646:p.Ala1599Asp					NOTCH2_ENST00000493703.1_5'UTR	p.A1599D	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	5015	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1599			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4796C>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807633	0.16467	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	6.08	5.17	0.71159	.	0.201896	0.24298	U	0.039751	T	0.57858	0.2082	L	0.55481	1.735	0.38961	D	0.958543	P	0.43477	0.808	B	0.33690	0.168	T	0.61282	-0.7094	10	0.13853	T	0.58	.	12.4833	0.55856	0.0772:0.0:0.9228:0.0	.	1599	Q04721	NOTC2_HUMAN	D	1599	ENSP00000256646:A1599D	ENSP00000256646:A1599D	A	-	2	0	NOTCH2	120267846	0.980000	0.34600	0.774000	0.31636	0.969000	0.65631	3.271000	0.51608	1.597000	0.50072	0.655000	0.94253	GCT		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		41	373	1	0	4.10826e-27	1	4.75084e-27	41	373					T	120466323	G	T	120466323	3	4	79	1	0	0	0	0	1	0	0	0	10590	971	34	3	2655	3	NOTCH2	1	120466323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7309	120466323	128784298	996	11313											
NOTCH2	4853	broad.mit.edu	37	chr1	120483361	120483361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatcccatcaacacatgtGccaccattgaaacaggagct	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1000	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACACATGTGCCACCATTGA	0.443			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2998-3000)ggC>ggT		notch 2							122	95	104					1																	120483361		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120483361G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3000C>T	1.37:g.120483361G>A							p.G1000G	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3219	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1000			EGF-like 26; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.3000C>T	CCDS908.1																																																																																				0.443	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		46	156	0	0	0	1	0	46	156					A	120483361	G	A	120483361	2	1	79	1	0	0	0	0	0	0	0	1	10590	1306	46	2		2	NOTCH2	1	120483361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17038	120483361	128767260	997	11314											
NOTCH2	4853	broad.mit.edu	37	chr1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgttcaggcaagggctgCtgtaacattcatcaatctgg	10	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	613	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCTGCTGTAACATTC	0.527			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1837-1839)aGc>aTc		notch 2							247	210	223					1																	120506274		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120506274C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1838G>T	1.37:g.120506274C>A	ENSP00000256646:p.Ser613Ile						p.S613I	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2057	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	613			EGF-like 16; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1838G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779348	0.90195	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.09630	2.96	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45126	U	0.000381	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.786;0.927;1.0	P;P;D	0.91635	0.595;0.739;0.999	T	0.40701	-0.9549	10	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	574;613;613	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	613;574	ENSP00000256646:S613I	ENSP00000256646:S613I	S	-	2	0	NOTCH2	120307797	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	AGC		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		93	851	1	0	5.52034e-35	1	6.58082e-35	93	851					A	120506274	C	A	120506274	3	1	79	1	0	0	0	0	1	0	0	0	10590	797	28	3	5673	3	NOTCH2	1	120506274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22913	120506274	128744347	998	11315											
FCGR1B	2210	broad.mit.edu	37	chr1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggccagaggttctccttCcatgaagactctgctggaga	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	116	Ig-like C2-type 2.				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)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GGTTCTCCTTCCATGAAGACT	0.463																																						ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(346-348)Gaa>Aaa		Fc fragment of IgG, high affinity Ib, receptor (CD64)							163	160	161					1																	120930255		2203	4300	6503	SO:0001583	missense	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120930255C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.346G>A	1.37:g.120930255C>T	ENSP00000358391:p.Glu116Lys					FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.9_ENST00000457996.1_RNA	p.E116K	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	388	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	116			Ig-like C2-type 2.		Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	c.346G>A	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.766223|1.766223	0.31228|0.31228	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.14766|.	2.48;2.48|.	2.16|2.16	2.16|2.16	0.27623|0.27623	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	D|.	0.000080|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.86343|0.86343	2.81|2.81	0.28108|0.28108	N|N	0.931133|0.931133	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.97;0.999|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.87932|.	D|.	0|.	.|.	7.9331|7.9331	0.29914|0.29914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;24;116|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|E	116;24|100	ENSP00000358391:E116K;ENSP00000358390:E24K|.	ENSP00000358390:E24K|.	E|G	-|-	1|2	0|0	FCGR1B|FCGR1B	120731778|120731778	0.970000|0.970000	0.33590|0.33590	0.630000|0.630000	0.29268|0.29268	0.109000|0.109000	0.19521|0.19521	2.941000|2.941000	0.49011|0.49011	1.543000|1.543000	0.49345|0.49345	0.184000|0.184000	0.17185|0.17185	GAA|GGA		0.463	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			124	524	0	0	0	1	0	124	524					T	120930255	C	T	120930255	3	4	79	1	0	0	0	0	1	0	0	0	5805	864	30	2	504	2	FCGR1B	1	120930255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423981	120930255	128320366	999	11316											
NBPF9	400818	broad.mit.edu	37	chr1	144828718	144828719	+	Frame_Shift_Ins	INS	-	-	T													ccctttacgtggacaataggINSttttttactttgacggtgac					rs587775961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144828718_144828719insT	ENST00000281815.8	+	13	1304_1305	c.558_559insT	c.(559-561)tttfs	p.F187fs	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.F589fs			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	847	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGACAATAGGTTTTTTACTTT	0.446																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1762-1767)agttttfs		neuroblastoma breakpoint family, member 9																																				SO:0001589	frameshift_variant	400818							g.chr1:144828718_144828719insT		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.564dupT	1.37:g.144828724_144828724dupT	ENSP00000281815:p.Phe187fs					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Frame_Shift_Ins_p.SF186fs|NBPF9_ENST00000468645.1_3'UTR	p.SF588fs							14	1764_1765	+									Frame_Shift_Ins	INS	ENST00000281815.8	37	c.1764_1765insT																																																																																					0.446	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		90	1350						90	1350	---	---	---	---	T	144828719	-	T	144828718	7	5	79	1	0	1	1	0	0	0	0	0	10241	1252	44	0	2839	0	NBPF9	1	144828718	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	23898463	144828718	104421903	1000	11317											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctctaagttagtccttGccttctttaaaacatcatgt	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7390-7392)gCa>gTa		phosphodiesterase 4D interacting protein							238	188	205					1																	144854181		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854181G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6983C>T	1.37:g.144854181G>A	ENSP00000358360:p.Ala2328Val					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2328V	p.A2464V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	46	7429	-			2328					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7391C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	183	0	0	0	1	0	5	183					A	144854181	G	A	144854181	3	1	79	1	0	0	0	0	1	0	0	0	11685	1319	46	2	65	2	PDE4DIP	1	144854181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25463	144854181	104396440	1001	11318											
PDE4DIP	9659	broad.mit.edu	37	chr1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctagggcatggtgcagggCactggtgctgctccgaagct	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000369354.3	-	41	6904	c.6715G>C	c.(6715-6717)Gcc>Ccc	p.A2239P	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2239					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGCAGGGCACTGGTGCTG	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7123-7125)Gcc>Ccc		phosphodiesterase 4D interacting protein							55	51	52					1																	144855838		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855838C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6715G>C	1.37:g.144855838C>G	ENSP00000358360:p.Ala2239Pro					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2239P	p.A2375P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7161	-			2239					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7123G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843624	0.91197	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.74;4.74;4.75	4.42	3.22	0.36961	.	.	.	.	.	T	0.01940	0.0061	M	0.67953	2.075	0.32038	N	0.598654	P;D	0.55800	0.95;0.973	P;P	0.52424	0.698;0.674	T	0.43015	-0.9417	9	0.62326	D	0.03	.	4.5549	0.12131	0.0:0.7086:0.0:0.2914	.	2133;2239	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	2133;2239;2239;2324;2375	ENSP00000327209:A2133P;ENSP00000358360:A2239P;ENSP00000358363:A2239P;ENSP00000435654:A2324P;ENSP00000358366:A2375P	ENSP00000327209:A2133P	A	-	1	0	PDE4DIP	143567195	0.994000	0.37717	0.894000	0.35097	0.641000	0.38312	2.755000	0.47540	2.191000	0.70037	0.549000	0.68633	GCC		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		51	272	0	0	0	1	0	51	272					G	144855838	C	G	144855838	3	3	79	1	0	0	0	0	1	0	0	0	11685	710	25	5	341	5	PDE4DIP	1	144855838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	144855838	104394783	1002	11319											
PDE4DIP	9659	broad.mit.edu	37	chr1	144857634	144857634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctctgttgattatgggCgtttctgagccaggagtaga	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6826-6828)acG>acA		phosphodiesterase 4D interacting protein							256	282	273					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857634C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	1.37:g.144857634C>T						PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T	p.T2276T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6866	-			2140					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6828G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		131	1464	0	0	0	1	0	131	1464					T	144857634	C	T	144857634	2	4	79	1	0	0	0	0	0	0	0	1	11685	755	27	1		1	PDE4DIP	1	144857634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1796	144857634	104392987	1003	11320											
PDE4DIP	9659	broad.mit.edu	37	chr1	144863415	144863415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctcttcacactgttgCtgcaggagaaccagcttgtg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000369354.3	-	37	6177	c.5988G>A	c.(5986-5988)caG>caA	p.Q1996Q	PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1996					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACACTGTTGCTGCAGGAGAA	0.532			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6394-6396)caG>caA		phosphodiesterase 4D interacting protein							185	176	179					1																	144863415		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863415C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5988G>A	1.37:g.144863415C>T						PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000369354.3_Silent_p.Q1996Q|RP4-791M13.4_ENST00000532137.1_RNA	p.Q2132Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6434	-			1996					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6396G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088585	0.20390	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.83	2.92	0.33932	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	.	8.6048	0.33767	0.0:0.8033:0.0:0.1967	.	.	.	.	N	153	.	.	S	-	2	0	PDE4DIP	143574772	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.648000	0.37271	0.542000	0.28846	0.484000	0.47621	AGC		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		76	795	0	0	0	1	0	76	795					T	144863415	C	T	144863415	2	4	79	1	0	0	0	0	0	0	0	1	11685	796	28	2		2	PDE4DIP	1	144863415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5781	144863415	104387206	1004	11321											
PDE4DIP	9659	broad.mit.edu	37	chr1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcagagcctccctcaggCtttctgtttcctgggagtgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000369354.3	-	36	5981	c.5792G>T	c.(5791-5793)aGc>aTc	p.S1931I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1931					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCCTCAGGCTTTCTGTTTC	0.537			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6199-6201)aGc>aTc		phosphodiesterase 4D interacting protein							77	85	83					1																	144864303		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864303C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5792G>T	1.37:g.144864303C>A	ENSP00000358360:p.Ser1931Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1931I|RP4-791M13.4_ENST00000532137.1_RNA	p.S2067I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	39	6238	-			1931					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6200G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.583|7.583	0.669135|0.669135	0.14776|0.14776	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01665	.|4.7;4.81;4.81;4.8;4.81	4.52|4.52	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	N|N	0.08118|0.08118	0|0	0.24301|0.24301	N|N	0.995126|0.995126	.|B;B	.|0.26744	.|0.047;0.158	.|B;B	.|0.18871	.|0.023;0.021	T|T	0.46624|0.46624	-0.9178|-0.9178	5|9	.|0.51188	.|T	.|0.08	.|.	3.2333|3.2333	0.06756|0.06756	0.195:0.5389:0.0:0.2661|0.195:0.5389:0.0:0.2661	.|.	.|1825;1931	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	S|I	88|1825;1931;1931;2016;2067	.|ENSP00000327209:S1825I;ENSP00000358360:S1931I;ENSP00000358363:S1931I;ENSP00000435654:S2016I;ENSP00000358366:S2067I	.|ENSP00000327209:S1825I	A|S	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143575660|143575660	0.766000|0.766000	0.28496|0.28496	0.468000|0.468000	0.27192|0.27192	0.453000|0.453000	0.32348|0.32348	1.302000|1.302000	0.33459|0.33459	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		64	663	1	0	3.00063e-23	1	3.40875e-23	64	663					A	144864303	C	A	144864303	3	1	79	1	0	0	0	0	1	0	0	0	11685	797	28	3	1284	3	PDE4DIP	1	144864303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	888	144864303	104386318	1005	11322											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggcctccagctgggatactCtctggatgagactctccagg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000369354.3	-	27	4520	c.4331G>T	c.(4330-4332)aGa>aTa	p.R1444I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1444					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGGATACTCTCTGGATGAG	0.562			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4738-4740)aGa>aTa		phosphodiesterase 4D interacting protein							104	114	111					1																	144879119		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879119C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4331G>T	1.37:g.144879119C>A	ENSP00000358360:p.Arg1444Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1444I	p.R1580I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4777	-			1444			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4739G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225105	0.95173	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03212	4.01;4.06;4.02;4.05;4.07	5.82	5.82	0.92795	.	.	.	.	.	T	0.12050	0.0293	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00295	-1.1839	9	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	1400;1444	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1400;1444;1444;1580;1580	ENSP00000327209:R1400I;ENSP00000358360:R1444I;ENSP00000358363:R1444I;ENSP00000435654:R1580I;ENSP00000358366:R1580I	ENSP00000327209:R1400I	R	-	2	0	PDE4DIP	143590476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.774000	0.75012	2.765000	0.95021	0.591000	0.81541	AGA		0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		31	701	1	0	7.26314e-15	1	7.90818e-15	31	701					A	144879119	C	A	144879119	3	1	79	1	0	0	0	0	1	0	0	0	11685	913	32	3	2781	3	PDE4DIP	1	144879119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14816	144879119	104371502	1006	11323											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctctttggttaccacaGtctcaaccatcacctcgccc	5	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000369354.3	-	24	3446	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1086					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTACCACAGTCTCAACCAT	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3667-3669)aCt>aTt		phosphodiesterase 4D interacting protein							304	272	283					1																	144882762		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882762G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3257C>T	1.37:g.144882762G>A	ENSP00000358360:p.Thr1086Ile					PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1086I	p.T1223I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	3706	-			1086					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3668C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672060	0.47781	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01474	4.86;4.86;4.85;4.86	5.27	3.32	0.38043	.	.	.	.	.	T	0.01222	0.0040	L	0.51422	1.61	0.18873	N	0.999989	D	0.56521	0.976	P	0.47864	0.559	T	0.53027	-0.8496	9	0.42905	T	0.14	.	5.7399	0.18087	0.0915:0.0:0.5945:0.314	.	1086	Q5VU43	MYOME_HUMAN	I	1086;1086;1223;1223	ENSP00000358360:T1086I;ENSP00000358363:T1086I;ENSP00000435654:T1223I;ENSP00000358366:T1223I	ENSP00000358360:T1086I	T	-	2	0	PDE4DIP	143594119	0.389000	0.25205	0.098000	0.21074	0.858000	0.48976	1.796000	0.38794	2.742000	0.94016	0.655000	0.94253	ACT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		66	1368	0	0	0	1	0	66	1368					A	144882762	G	A	144882762	3	1	79	1	0	0	0	0	1	0	0	0	11685	1029	36	2	3867	2	PDE4DIP	1	144882762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3643	144882762	104367859	1007	11324											
PDE4DIP	9659	broad.mit.edu	37	chr1	144892214	144892214	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaaaatgcttctgaagCtatagctacagagaataaat	7	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144892214C>A	ENST00000369354.3	-	22	3094				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_3'UTR|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Nonstop_Mutation_p.*1133Y|PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGAAGCTATAGCTACA	0.458			T	PDGFRB	MPD																																	ENST00000313431.9				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3397-3399)taG>taT		phosphodiesterase 4D interacting protein							65	68	67					1																	144892214		2203	4296	6499	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144892214C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2904+286G>T	1.37:g.144892214C>A						PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_3'UTR	p.*1133Y	NM_001002811.1	NP_001002811.1	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	19	4055	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonstop_Mutation	SNP	ENST00000369354.3	37	c.3399G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974429	0.53720	.	.	ENSG00000178104	ENST00000369349;ENST00000313431	.	.	.	4.85	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7107	0.34382	0.0:0.8979:0.0:0.1021	.	.	.	.	Y	970;1133	.	.	X	-	3	2	PDE4DIP	143603571	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	0.951000	0.29135	1.284000	0.44531	0.650000	0.86243	TAG		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		19	146	1	0	9.57634e-11	1	1.01752e-10	19	146					A	144892214	C	A	144892214	1	1	79	0	1	0	0	0	0	0	0	0	11685	808	28	3		3	PDE4DIP	1	144892214	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9452	144892214	104358407	1008	11325											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctctcacagcaagaCgaagctggcgcagttctttt	9	13	3	1	rs374769269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000369354.3	-	12	1718	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R510H(1)|p.R673H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACAGCAAGACGAAGCTGGCG	0.448			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.R510H(1)|p.R673H(1)	prostate(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2017-2019)cGt>cAt		phosphodiesterase 4D interacting protein		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	271	261	264		1529,1529,1727,1529,2018	-0.3	0	1		264	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1	29,29,29,29,29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	510/2347,510/2363,576/2241,510/970,673/1133	144917575	2,12996	2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144917575C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1529G>A	1.37:g.144917575C>T	ENSP00000358360:p.Arg510His					PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H	p.R673H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	2457	-			510					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2018G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026704	0.19512	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12774	4.66;4.73;4.73;4.75;4.74;3.74;3.74;2.66;2.66;2.65	6.04	-0.323	0.12709	.	.	.	.	.	T	0.02156	0.0067	N	0.16307	0.4	0.20764	N	0.999859	B;B;B;B;B;B	0.27192	0.018;0.009;0.0;0.022;0.171;0.006	B;B;B;B;B;B	0.17098	0.01;0.012;0.0;0.009;0.017;0.001	T	0.45041	-0.9288	9	0.25751	T	0.34	.	9.7616	0.40534	0.0:0.4482:0.0:0.5518	.	673;297;510;673;576;510	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	576;510;510;673;647;647;510;510;673;673;297	ENSP00000327209:R576H;ENSP00000358360:R510H;ENSP00000358363:R510H;ENSP00000435654:R647H;ENSP00000358366:R647H;ENSP00000358357:R510H;ENSP00000358355:R510H;ENSP00000316434:R673H;ENSP00000433392:R673H;ENSP00000436791:R297H	ENSP00000327209:R576H	R	-	2	0	PDE4DIP	143628932	0.235000	0.23794	0.012000	0.15200	0.775000	0.43874	0.522000	0.22909	-0.060000	0.13132	-0.312000	0.09012	CGT		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		73	1528	0	0	0	1	0	73	1528					T	144917575	C	T	144917575	3	4	79	1	0	0	0	0	1	0	0	0	11685	536	19	1	5653	1	PDE4DIP	1	144917575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25361	144917575	104333046	1009	11326											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930582	144930582	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgtagccgttttgtatAcctggacccggagcggcaaa	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144930582A>G	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000529945.1_Splice_Site|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTTTTGTATACCTGGACCCG	0.483			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.e1+1		phosphodiesterase 4D interacting protein							90	98	95					1																	144930582		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930582A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6761T>C	1.37:g.144930582A>G						PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Splice_Site				Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1565	-								A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37		CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.256936	0.59321	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7584	0.62950	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143641939	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	8.265000	0.89869	2.135000	0.66039	0.529000	0.55759	.		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		39	619	0	0	0	1	0	39	619					G	144930582	A	G	144930582	1	3	79	0	1	0	0	0	0	0	0	0	11685	405	14	4		4	PDE4DIP	1	144930582	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13007	144930582	104320039	1010	11327											
PDE4DIP	9659	broad.mit.edu	37	chr1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcacttccatgctaGttggctcctccaacagatgt	7	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000369354.3	-	5	809	c.620C>T	c.(619-621)aCt>aTt	p.T207I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|RNU2-38P_ENST00000410856.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	207					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCATGCTAGTTGGCTCCTC	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1030-1032)aCt>aTt		phosphodiesterase 4D interacting protein							134	117	122					1																	144946641		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144946641G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.620C>T	1.37:g.144946641G>A	ENSP00000358360:p.Thr207Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I	p.T344I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	1069	-			207					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1031C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208727	0.06140	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03717	4.75;4.84;4.84;4.85;4.84;3.83;3.84	5.16	-2.16	0.07080	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28258	0.009;0.205;0.032	B;B;B	0.30401	0.007;0.115;0.013	T	0.47636	-0.9102	9	0.33940	T	0.23	.	0.9982	0.01472	0.171:0.2796:0.2715:0.2778	.	207;273;207	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	273;207;207;344;344;207;207;273	ENSP00000327209:T273I;ENSP00000358360:T207I;ENSP00000358363:T207I;ENSP00000435654:T344I;ENSP00000358366:T344I;ENSP00000358357:T207I;ENSP00000358355:T207I	ENSP00000327209:T273I	T	-	2	0	PDE4DIP	143657998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.162000	0.10964	-0.857000	0.03018	ACT		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		33	295	0	0	0	1	0	33	295					A	144946641	G	A	144946641	3	1	79	1	0	0	0	0	1	0	0	0	11685	1029	36	2	7719	2	PDE4DIP	1	144946641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16059	144946641	104303980	1011	11328											
PDE4DIP	9659	broad.mit.edu	37	chr1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagatagctgttctacaaGcctctcctgggcagccaggc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000369354.3	-	5	751	c.562C>A	c.(562-564)Ctt>Att	p.L188I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|RNU2-38P_ENST00000410856.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	188					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTCTACAAGCCTCTCCTGG	0.433			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(973-975)Ctt>Att		phosphodiesterase 4D interacting protein							138	125	129					1																	144946699		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144946699G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.562C>A	1.37:g.144946699G>T	ENSP00000358360:p.Leu188Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I	p.L325I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	1011	-			188					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.973C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488927	0.64074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.04917	4.38;4.5;4.51;4.5;4.5;3.53;3.54	5.16	3.15	0.36227	.	.	.	.	.	T	0.10508	0.0257	M	0.65975	2.015	0.80722	D	1	B;D;D	0.76494	0.002;0.993;0.999	B;P;D	0.63957	0.011;0.86;0.92	T	0.01205	-1.1419	9	0.66056	D	0.02	.	10.3884	0.44154	0.0:0.0:0.6156:0.3844	.	188;254;188	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	254;188;188;325;325;188;188;254	ENSP00000327209:L254I;ENSP00000358360:L188I;ENSP00000358363:L188I;ENSP00000435654:L325I;ENSP00000358366:L325I;ENSP00000358357:L188I;ENSP00000358355:L188I	ENSP00000327209:L254I	L	-	1	0	PDE4DIP	143658056	0.998000	0.40836	0.925000	0.36789	0.734000	0.41952	1.902000	0.39848	0.636000	0.30508	0.655000	0.94253	CTT		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		63	419	1	0	8.24881e-48	1	1.01635e-47	63	419					T	144946699	G	T	144946699	3	4	79	1	0	0	0	0	1	0	0	0	11685	971	34	3	7777	3	PDE4DIP	1	144946699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	144946699	104303922	1012	11329											
PDE4DIP	9659	broad.mit.edu	37	chr1	144994627	144994627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccggctggcctcatacttCtgttgcatgcgctcctccag	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000369354.3	-	1	294	c.105G>A	c.(103-105)caG>caA	p.Q35Q	PDE4DIP_ENST00000369359.4_Silent_p.Q172Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	35					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATACTTCTGTTGCATGC	0.597			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(514-516)caG>caA		phosphodiesterase 4D interacting protein							148	133	138					1																	144994627		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144994627C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.105G>A	1.37:g.144994627C>T						PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000369354.3_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q	p.Q172Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	554	-			35					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.516G>A	CCDS30824.1																																																																																				0.597	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		50	953	0	0	0	1	0	50	953					T	144994627	C	T	144994627	2	4	79	1	0	0	0	0	0	0	0	1	11685	912	32	2		2	PDE4DIP	1	144994627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47928	144994627	104255994	1013	11330											
SEC22B	9554	broad.mit.edu	37	chr1	145103941	145103941	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagtatcagagtcagGctaagtaactctttcgaaag	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145103941G>A	ENST00000453618.1	+	0	436							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCAGAGTCAGGCTAAGTAACT	0.403																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							84	77	79					1																	145103941		1938	4146	6084			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103941G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103941G>A										O75396	SC22B_HUMAN			0	436	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		6	88	0	0	0	1	0	6	88					A	145103941	G	A	145103941	1	1	79	0	1	0	0	0	0	0	0	0	14039	1203	42	2		2	SEC22B	1	145103941	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109314	145103941	104146680	1014	11331											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273391	145273391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgaatggcggcacatGccatatgctcagccgggata	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145273391G>A	ENST00000369340.3	+	4	689	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C82Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	82	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGCGGCACATGCCATATGCTC	0.527																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(244-246)tGc>tAc		notch 2 N-terminal like							368	340	350					1																	145273391		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273391G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.245G>A	1.37:g.145273391G>A	ENSP00000358346:p.Cys82Tyr					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C82Y	p.C82Y			Q7Z3S9	NT2NL_HUMAN			4	689	+			82			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.245G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679545	0.47886	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.99992	-12.4;-12.4;-12.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.97240	3.965	0.43036	D	0.99461	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.99895	1.1145	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	82;82	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	Y	82	ENSP00000354929:C82Y;ENSP00000344557:C82Y;ENSP00000358346:C82Y	ENSP00000344557:C82Y	C	+	2	0	NOTCH2NL	143984748	1.000000	0.71417	0.996000	0.52242	0.391000	0.30476	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	TGC		0.527	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		83	2199	0	0	0	1	0	83	2199					A	145273391	G	A	145273391	3	1	79	1	0	0	0	0	1	0	0	0	10591	1319	46	2	251	2	NOTCH2NL	1	145273391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169450	145273391	103977230	1015	11332											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281532	145281532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacattccaggacactgccaGcatggtggcacctgcctcaa	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145281532G>T	ENST00000369340.3	+	5	906	c.462G>T	c.(460-462)caG>caT	p.Q154H	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	154	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACACTGCCAGCATGGTGGCA	0.567																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(460-462)caG>caT		notch 2 N-terminal like							176	180	178					1																	145281532		2203	4298	6501	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281532G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.462G>T	1.37:g.145281532G>T	ENSP00000358346:p.Gln154His					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H	p.Q154H			Q7Z3S9	NT2NL_HUMAN			5	906	+			154			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.462G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332624	0.24167	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.98437	-4.93;-4.93;-4.93	2.87	1.9	0.25705	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91905	0.7437	L	0.39326	1.205	0.22171	N	0.99932	B;B	0.21381	0.028;0.055	B;B	0.27715	0.018;0.082	D	0.87636	0.2519	9	0.48119	T	0.1	.	4.6414	0.12550	0.3296:0.0:0.6704:0.0	.	154;154	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	H	154	ENSP00000354929:Q154H;ENSP00000344557:Q154H;ENSP00000358346:Q154H	ENSP00000344557:Q154H	Q	+	3	2	NOTCH2NL	143992889	0.965000	0.33210	0.991000	0.47740	0.926000	0.56050	0.108000	0.15396	0.497000	0.27926	0.400000	0.26472	CAG		0.567	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		74	1415	1	0	1.00776e-21	1	1.13667e-21	74	1415					T	145281532	G	T	145281532	3	4	79	1	0	0	0	0	1	0	0	0	10591	962	34	3	472	3	NOTCH2NL	1	145281532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8141	145281532	103969089	1016	11333											
HFE2	148738	broad.mit.edu	37	chr1	145415658	145415658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggttttcccggctgcatggTcgtcccccggggttcttgca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	159					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCATGGTCGTCCCCCGG	0.687																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(475-477)ggT>ggC		hemochromatosis type 2 (juvenile)							45	43	44					1																	145415658		2203	4300	6503	SO:0001819	synonymous_variant	148738				axon guidance	anchored to membrane		g.chr1:145415658T>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.477T>C	1.37:g.145415658T>C						HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.G159G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	715	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		159					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Silent	SNP	ENST00000336751.5	37	c.477T>C	CCDS910.1																																																																																				0.687	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		83	252	0	0	0	1	0	83	252					C	145415658	T	C	145415658	2	2	79	1	0	0	0	0	0	0	0	1	7112	1654	58	4		4	HFE2	1	145415658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134126	145415658	103834963	1017	11334											
HFE2	148738	broad.mit.edu	37	chr1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcttcccctcagatgCtggggttcctctttcctcag	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000497365.1_Missense_Mutation_p.A175V|HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	401					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTCAGATGCTGGGGTTCCT	0.542																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(1201-1203)gCt>gTt		hemochromatosis type 2 (juvenile)							115	99	104					1																	145416857		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416857C>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1202C>T	1.37:g.145416857C>T	ENSP00000337014:p.Ala401Val					HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V|HFE2_ENST00000475797.1_Missense_Mutation_p.A175V	p.A401V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			4	1440	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		401					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.1202C>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806749	0.31961	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;T;T	0.93547	-2.84;-3.24;-1.33;-1.33	5.44	3.55	0.40652	Repulsive guidance molecule, C-terminal (1);	0.615570	0.16395	N	0.216261	T	0.81351	0.4804	L	0.43152	1.355	0.32942	D	0.51858	B	0.11235	0.004	B	0.19391	0.025	T	0.65894	-0.6057	10	0.14656	T	0.56	-4.8878	10.1462	0.42764	0.0:0.8363:0.0:0.1637	.	401	Q6ZVN8	RGMC_HUMAN	V	288;401;175;175	ENSP00000350495:A288V;ENSP00000337014:A401V;ENSP00000421820:A175V;ENSP00000425716:A175V	ENSP00000337014:A401V	A	+	2	0	HFE2	144128214	0.781000	0.28676	0.287000	0.24848	0.116000	0.19942	0.827000	0.27421	0.840000	0.34995	0.655000	0.94253	GCT		0.542	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		87	395	0	0	0	1	0	87	395					T	145416857	C	T	145416857	3	4	79	1	0	0	0	0	1	0	0	0	7112	797	28	2	1212	2	HFE2	1	145416857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1199	145416857	103833764	1018	11335											
TXNIP	10628	broad.mit.edu	37	chr1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggtgtacggcagtgGcgagaaggtggctggccggg	20	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	24					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACGGCAGTGGCGAGAAGGTG	0.488																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(70-72)gGc>gAc		thioredoxin interacting protein							124	114	117					1																	145438873		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438873G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.71G>A	1.37:g.145438873G>A	ENSP00000358323:p.Gly24Asp					TXNIP_ENST00000475171.1_Intron	p.G24D	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	405	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		24					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.71G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597236	0.96602	.	.	ENSG00000117289	ENST00000369317	T	0.23348	1.91	5.64	5.64	0.86602	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.053612	0.85682	D	0.000000	T	0.52741	0.1753	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61068	-0.7137	10	0.87932	D	0	-0.422	17.1852	0.86865	0.0:0.0:1.0:0.0	.	24	Q9H3M7	TXNIP_HUMAN	D	24	ENSP00000358323:G24D	ENSP00000358323:G24D	G	+	2	0	TXNIP	144150230	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.980000	0.93460	2.665000	0.90641	0.655000	0.94253	GGC		0.488	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		12	393	0	0	0	1	0	12	393					A	145438873	G	A	145438873	3	1	79	1	0	0	0	0	1	0	0	0	16857	1203	42	2	73	2	TXNIP	1	145438873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22016	145438873	103811748	1019	11336											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaactccgagccctggggcCtagtggcccctcctcaacca	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	252	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(754-756)Cta>Ata		ankyrin repeat domain 34A							53	63	60					1																	145474082		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474082C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.754C>A	1.37:g.145474082C>A	ENSP00000314103:p.Leu252Ile						p.L252I	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2047	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		252			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.754C>A	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834704	0.32421	.	.	ENSG00000181039	ENST00000323397	T	0.76448	-1.02	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000016	T	0.77765	0.4179	L	0.49126	1.545	0.31274	N	0.691455	D	0.57571	0.98	D	0.73708	0.981	T	0.76192	-0.3049	10	0.59425	D	0.04	-7.7467	9.2101	0.37313	0.0:0.9037:0.0:0.0963	.	252	Q69YU3	AN34A_HUMAN	I	252	ENSP00000314103:L252I	ENSP00000314103:L252I	L	+	1	2	ANKRD34A	144185439	0.977000	0.34250	1.000000	0.80357	0.956000	0.61745	2.368000	0.44222	2.585000	0.87301	0.574000	0.79327	CTA		0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			121	697	1	0	6.84403e-32	1	8.07054e-32	121	697					A	145474082	C	A	145474082	3	1	79	1	0	0	0	0	1	0	0	0	662	680	24	3	756	3	ANKRD34A	1	145474082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35209	145474082	103776539	1020	11337											
RBM8A	9939	broad.mit.edu	37	chr1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagacatacacgacaaAttcgcagaatatggggaaat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000601726.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453																																						ENST00000330165.7																			0				kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(274-276)aaA>aaC		RNA binding motif protein 8A							106	100	102					1																	145508545		2203	4300	6503	SO:0001583	missense	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145508545A>C	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.276A>C	1.37:g.145508545A>C	ENSP00000333001:p.Lys92Asn					RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N	p.K92N	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN			4	345	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		92			RRM.		B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	c.276A>C	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720441	0.48728	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.15952	2.38;2.38	4.32	1.93	0.25924	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055524	0.64402	D	0.000001	T	0.05456	0.0144	L	0.40543	1.245	0.58432	D	0.999998	B;B	0.28760	0.185;0.221	B;B	0.32762	0.094;0.152	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.5494	5.7489	0.18136	0.7769:0.0:0.2231:0.0	.	91;92	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	N	92;91	ENSP00000333001:K92N;ENSP00000358313:K91N	ENSP00000333001:K92N	K	+	3	2	RBM8A	144219902	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.661000	0.25023	0.217000	0.20800	0.459000	0.35465	AAA		0.453	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		129	326	0	0	0	1	0	129	326					C	145508545	A	C	145508545	3	2	79	1	0	0	0	0	1	0	0	0	13196	98	4	4	290	4	RBM8A	1	145508545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34463	145508545	103742076	1021	11338											
ITGA10	8515	broad.mit.edu	37	chr1	145536894	145536894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggccttgactgtgacCtttgccttggacaatactac	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	758					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGTGACCTTTGCCTTGG	0.507																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2272-2274)acC>acT		integrin, alpha 10							197	177	184					1																	145536894		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536894C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2274C>T	1.37:g.145536894C>T						ITGA10_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	p.T758T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			18	2449	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		758					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.2274C>T	CCDS918.1																																																																																				0.507	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		240	733	0	0	0	1	0	240	733					T	145536894	C	T	145536894	2	4	79	1	0	0	0	0	0	0	0	1	7903	668	24	2		2	ITGA10	1	145536894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28349	145536894	103713727	1022	11339											
ANKRD35	148741	broad.mit.edu	37	chr1	145561096	145561096	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattctgtttccaacatagGcctctccatctgagccccag	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	262										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAACATAGGCCTCTCCATC	0.527																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.e10-1		ankyrin repeat domain 35							34	40	38					1																	145561096		2203	4300	6503	SO:0001630	splice_region_variant	148741							g.chr1:145561096G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.784-1G>A	1.37:g.145561096G>A						ANKRD35_ENST00000544626.1_3'UTR	p.A262_splice	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	871	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		262					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Splice_Site	SNP	ENST00000355594.4	37	c.783_splice	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986217	0.35036	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.65916	-0.18	5.77	3.91	0.45181	.	0.239499	0.29602	N	0.011683	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.08086	-1.0739	9	.	.	.	-0.742	8.9586	0.35834	0.1698:0.0:0.8302:0.0	.	262	Q8N283	ANR35_HUMAN	T	171;262	ENSP00000347802:A262T	.	A	+	1	0	ANKRD35	144272453	1.000000	0.71417	0.986000	0.45419	0.137000	0.21094	1.100000	0.31025	0.908000	0.36671	0.655000	0.94253	GCC		0.527	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	Missense_Mutation	40	129	0	0	0	1	0	40	129					A	145561096	G	A	145561096	5	1	79	1	0	0	0	0	0	0	1	0	664	1217	42	2	822	2	ANKRD35	1	145561096	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24202	145561096	103689525	1023	11340											
PIAS3	10401	broad.mit.edu	37	chr1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcagctgccatcccgGccctacctggaagcaaaggg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	477					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1429-1431)Gcc>Acc		protein inhibitor of activated STAT, 3							89	94	93					1																	145584278		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584278G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1429G>A	1.37:g.145584278G>A	ENSP00000376765:p.Ala477Thr					PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	p.A477T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1519	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		477					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1429G>A	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816415	0.16607	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30448	1.53;1.53	5.64	3.8	0.43715	.	0.197182	0.35151	N	0.003403	T	0.06554	0.0168	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18967	-1.0320	10	0.08381	T	0.77	-8.8419	5.2502	0.15517	0.1643:0.0:0.6728:0.1629	.	477	Q9Y6X2	PIAS3_HUMAN	T	477;442	ENSP00000376765:A477T;ENSP00000358304:A442T	ENSP00000358304:A442T	A	+	1	0	PIAS3	144295635	0.629000	0.27146	0.579000	0.28588	0.835000	0.47333	1.000000	0.29770	0.954000	0.37851	-0.142000	0.14014	GCC		0.488	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		137	505	0	0	0	1	0	137	505					A	145584278	G	A	145584278	3	1	79	1	0	0	0	0	1	0	0	0	11919	1203	42	2	1471	2	PIAS3	1	145584278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23182	145584278	103666343	1024	11341											
NUDT17	200035	broad.mit.edu	37	chr1	145587350	145587350	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagctcttacttacaGgacagagggtggtaggtcct	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	244							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522																																						ENST00000334513.5																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.e6+1		nudix (nucleoside diphosphate linked moiety X)-type motif 17							66	66	66					1																	145587350		2203	4300	6503	SO:0001630	splice_region_variant	200035						hydrolase activity|metal ion binding	g.chr1:145587350G>A	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.731+1C>T	1.37:g.145587350G>A							p.L244_splice	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN			6	741	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		244						Splice_Site	SNP	ENST00000334513.5	37	c.731_splice	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.84	0.521	0.17046	.	1.078730	0.07151	N	0.849176	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.32798	-0.9893	9	0.23302	T	0.38	9.6337	2.9457	0.05845	0.091:0.149:0.3038:0.4563	.	244	P0C025	NUD17_HUMAN	F	244	.	ENSP00000334437:L244F	L	-	1	0	NUDT17	144298707	0.002000	0.14202	0.019000	0.16419	0.939000	0.58152	0.317000	0.19487	-0.057000	0.13199	0.655000	0.94253	CTT		0.522	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395	Missense_Mutation	82	214	0	0	0	1	0	82	214					A	145587350	G	A	145587350	5	1	79	1	0	0	0	0	0	0	1	0	10776	1014	35	2	268	2	NUDT17	1	145587350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3072	145587350	103663271	1025	11342											
RNF115	27246	broad.mit.edu	37	chr1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggttgccattgggtcGgagatacagatctcgaggaa	13	9	1	2	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(373-375)cGg>cAg		ring finger protein 115		G	GLN/ARG	0,4406		0,0,2203	99	93	95		374	2.1	0.9	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	RNF115	NM_014455.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	125/305	145663313	2,13004	2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145663313G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.374G>A	1.37:g.145663313G>A	ENSP00000358297:p.Arg125Gln						p.R125Q	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			4	578	+			125						Missense_Mutation	SNP	ENST00000369291.5	37	c.374G>A	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298000	0.23650	0.0	2.33E-4	ENSG00000121848	ENST00000369291	T	0.12361	2.69	5.14	2.14	0.27477	.	0.120515	0.53938	N	0.000056	T	0.01940	0.0061	N	0.08118	0	0.34876	D	0.744124	B	0.10296	0.003	B	0.04013	0.001	T	0.44559	-0.9320	10	0.27082	T	0.32	-4.4071	8.2455	0.31686	0.2735:0.0:0.7265:0.0	.	125	Q9Y4L5	RN115_HUMAN	Q	125	ENSP00000358297:R125Q	ENSP00000358297:R125Q	R	+	2	0	RNF115	144374670	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	2.408000	0.44574	0.288000	0.22398	0.655000	0.94253	CGG		0.458	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		33	387	0	0	0	1	0	33	387					A	145663313	G	A	145663313	3	1	79	1	0	0	0	0	1	0	0	0	13480	1116	39	1	388	1	RNF115	1	145663313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75963	145663313	103587308	1026	11343											
CD160	11126	broad.mit.edu	37	chr1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcttctttcttatGccatacagtacagattaagt	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000369288.2	-	4	359	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000235933.6_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	48	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTTTCTTATGCCATACAGTA	0.448																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000235933.6																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(142-144)Cat>Tat		CD160 molecule							97	93	94					1																	145704275		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145704275G>A	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"CD molecules"	17013	protein-coding gene	gene with protein product		604463	"CD160 antigen"			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.142C>T	1.37:g.145704275G>A	ENSP00000358294:p.His48Tyr					CD160_ENST00000369288.2_Missense_Mutation_p.H48Y|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron	p.H48Y			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		2	244	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		48			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.142C>T	CCDS923.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489403	0.04352	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03242	4.0;4.0;4.0	4.34	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.702414	0.12343	N	0.477329	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44097	-0.9350	10	0.19147	T	0.46	1.5738	7.9615	0.30074	0.4802:0.0:0.5198:0.0	.	48	O95971	BY55_HUMAN	Y	48	ENSP00000235933:H48Y;ENSP00000358294:H48Y;ENSP00000385199:H48Y	ENSP00000235933:H48Y	H	-	1	0	CD160	144415632	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.458000	0.06737	-0.109000	0.12044	-0.251000	0.11542	CAT		0.448	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		22	283	0	0	0	1	0	22	283					A	145704275	G	A	145704275	3	1	79	1	0	0	0	0	1	0	0	0	2975	1319	46	2	415	2	CD160	1	145704275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40962	145704275	103546346	1027	11344											
PDZK1	5174	broad.mit.edu	37	chr1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggaggcagctatgGcttctctctgaaaactgtcc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	146	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCAGCTATGGCTTCTCTCTG	0.522																																						ENST00000344770.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7						c.(436-438)gGc>gAc		PDZ domain containing 1							66	71	70					1																	145748564		2203	4300	6503	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145748564G>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.437G>A	1.37:g.145748564G>A	ENSP00000342143:p.Gly146Asp					PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D|PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D	p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	510	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		146			PDZ 2.		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.437G>A	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657044	0.67586	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;D;T	0.85339	-1.11;-1.11;-1.97;-1.11	5.84	4.93	0.64822	PDZ/DHR/GLGF (4);	0.096016	0.64402	D	0.000001	D	0.92747	0.7694	M	0.93978	3.48	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.94354	0.7582	10	0.87932	D	0	-0.2061	12.6429	0.56718	0.0798:0.0:0.9202:0.0	.	146;146	E7EU02;Q5T2W1	.;NHRF3_HUMAN	D	146	ENSP00000409291:G146D;ENSP00000394485:G146D;ENSP00000403422:G146D;ENSP00000342143:G146D	ENSP00000342143:G146D	G	+	2	0	PDZK1	144459921	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.210000	0.72176	1.485000	0.48380	-0.218000	0.12543	GGC		0.522	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		87	354	0	0	0	1	0	87	354					A	145748564	G	A	145748564	3	1	79	1	0	0	0	0	1	0	0	0	11749	1203	42	2	443	2	PDZK1	1	145748564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44289	145748564	103502057	1028	11345											
PRKAB2	5565	broad.mit.edu	37	chr1	146631222	146631222	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggaccatcacactgtcCtgcaaggaaaagaaacatac	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit						carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438																																						ENST00000254101.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e8-1		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Adenosine monophosphate(DB00131)						145	125	132					1																	146631222		2203	4300	6503	SO:0001630	splice_region_variant	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146631222C>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.742-1G>T	1.37:g.146631222C>A						PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site		NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN			8	880	-	all_hematologic(923;0.0487)							A8K9V5|B4DH06|Q5VXY0	Splice_Site	SNP	ENST00000254101.3	37		CCDS925.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027570	0.75390	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1174	0.86692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAB2	145097846	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.608000	0.67654	2.906000	0.99361	0.655000	0.94253	.		0.438	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399	Intron	28	139	1	0	1.88708e-17	1	2.08396e-17	28	139					A	146631222	C	A	146631222	5	1	79	1	0	0	0	0	0	0	1	0	12543	695	24	3	81	3	PRKAB2	1	146631222	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882658	146631222	102619399	1029	11346											
PRKAB2	5565	broad.mit.edu	37	chr1	146643671	146643671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccctcggagcgtgcaGccttggcgccgtggcgctcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	ENST00000254101.3	-	2	191	c.53C>T	c.(52-54)gCt>gTt	p.A18V	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.8_ENST00000606757.1_RNA|PRKAB2_ENST00000425272.2_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	18					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701																																						ENST00000254101.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)gCt>gTt		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Adenosine monophosphate(DB00131)						30	25	27					1																	146643671		2185	4282	6467	SO:0001583	missense	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146643671G>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.53C>T	1.37:g.146643671G>A	ENSP00000254101:p.Ala18Val					PRKAB2_ENST00000425272.2_5'UTR	p.A18V	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN			2	191	-	all_hematologic(923;0.0487)		18					A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	c.53C>T	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458603	0.63401	.	.	ENSG00000131791	ENST00000254101	.	.	.	4.23	4.23	0.50019	.	0.544208	0.19899	N	0.103548	T	0.27098	0.0664	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.18263	0.021	T	0.08046	-1.0741	9	0.28530	T	0.3	.	14.1452	0.65347	0.0:0.0:1.0:0.0	.	18	O43741	AAKB2_HUMAN	V	18	.	ENSP00000254101:A18V	A	-	2	0	PRKAB2	145110295	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.694000	0.68272	2.179000	0.69175	0.591000	0.81541	GCT		0.701	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		14	46	0	0	0	1	0	14	46					A	146643671	G	A	146643671	3	1	79	1	0	0	0	0	1	0	0	0	12543	971	34	2	793	2	PRKAB2	1	146643671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12449	146643671	102606950	1030	11347											
FMO5	2330	broad.mit.edu	37	chr1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatgattgcaagagttGgcctttccaggttaggaggg	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	364						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGCAAGAGTTGGCCTTTCCAG	0.453																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(1090-1092)cCa>cTa		flavin containing monooxygenase 5							122	120	120					1																	146672826		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672826G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1091C>T	1.37:g.146672826G>A	ENSP00000254090:p.Pro364Leu					FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L	p.P364L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			7	1479	-	all_hematologic(923;0.0487)		364					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1091C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	31	5.073679	0.94000	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60424	0.19;0.19	6.17	6.17	0.99709	.	0.101544	0.64402	D	0.000001	T	0.82001	0.4942	H	0.95079	3.62	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.77004	0.989;0.9	D	0.85815	0.1382	10	0.72032	D	0.01	-13.6878	18.3732	0.90420	0.0:0.0:1.0:0.0	.	364;364	P49326;C9JJD1	FMO5_HUMAN;.	L	364	ENSP00000416011:P364L;ENSP00000254090:P364L	ENSP00000254090:P364L	P	-	2	0	FMO5	145139450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.941000	0.99782	0.655000	0.94253	CCA		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		34	272	0	0	0	1	0	34	272					A	146672826	G	A	146672826	3	1	79	1	0	0	0	0	1	0	0	0	5983	1348	47	2	665	2	FMO5	1	146672826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29155	146672826	102577795	1031	11348											
CHD1L	9557	broad.mit.edu	37	chr1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattcccttggagtgttcTtgttgtggatgaagctcaca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000361293.5_5'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	171	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)					TGGAGTGTTCTTGTTGTGGAT	0.378																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(511-513)cTt>cGt		chromodomain helicase DNA binding protein 1-like							202	213	209					1																	146731508		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.chr1:146731508T>G	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.512T>G	1.37:g.146731508T>G	ENSP00000358262:p.Leu171Arg					CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R	p.L171R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			6	532	+	all_hematologic(923;0.0487)		171			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.512T>G	CCDS927.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157255	0.78114	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95001	-3.58;-3.58	4.96	4.96	0.65561	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98374	1.0555	10	0.87932	D	0	.	11.3378	0.49513	0.0:0.0:0.0:1.0	.	171;171	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	R	171;171;71;132	ENSP00000389031:L171R;ENSP00000358262:L171R	ENSP00000254086:L132R	L	+	2	0	CHD1L	145198132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	1.993000	0.58246	0.528000	0.53228	CTT		0.378	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		187	1024	0	0	0	1	0	187	1024					G	146731508	T	G	146731508	3	3	79	1	0	0	0	0	1	0	0	0	3333	1609	56	4	534	4	CHD1L	1	146731508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58682	146731508	102519113	1032	11349											
CHD1L	9557	broad.mit.edu	37	chr1	146766148	146766148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttttaactggtatggtaCtgagcgacttattcggaaac	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146766148C>T	ENST00000369258.4	+	22	2584	c.2564C>T	c.(2563-2565)aCt>aTt	p.T855I	CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I	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	855	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)			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)					TGGTATGGTACTGAGCGACTT	0.418																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2563-2565)aCt>aTt		chromodomain helicase DNA binding protein 1-like							277	240	253					1																	146766148		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.chr1:146766148C>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.2564C>T	1.37:g.146766148C>T	ENSP00000358262:p.Thr855Ile					CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I	p.T855I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			22	2584	+	all_hematologic(923;0.0487)		855			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2564C>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593805	0.66219	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.7	5.7	0.88788	Appr-1-p processing (1);	0.050779	0.85682	D	0.000000	T	0.36880	0.0983	N	0.13352	0.335	0.80722	D	1	P;D;P	0.89917	0.89;1.0;0.915	P;D;B	0.91635	0.692;0.999;0.411	T	0.26538	-1.0100	10	0.33141	T	0.24	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	761;651;855	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	I	761;651;855;574	ENSP00000389031:T761I;ENSP00000358263:T651I;ENSP00000358262:T855I;ENSP00000355100:T574I	ENSP00000355100:T574I	T	+	2	0	CHD1L	145232772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.695000	0.74593	2.696000	0.92011	0.655000	0.94253	ACT		0.418	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		12	810	0	0	0	1	0	12	810					T	146766148	C	T	146766148	3	4	79	1	0	0	0	0	1	0	0	0	3333	565	20	2	2650	2	CHD1L	1	146766148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34640	146766148	102484473	1033	11350											
BCL9	607	broad.mit.edu	37	chr1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagtatggcatgggccccaGaccattccttcccatgtctc	10	14	1	1	rs34002844	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2344-2346)aGa>aTa		B-cell CLL/lymphoma 9							44	45	45					1																	147092306		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092306G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2345G>T	1.37:g.147092306G>T	ENSP00000234739:p.Arg782Ile						p.R782I	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3085	+	all_hematologic(923;0.115)		782		R -> K (in dbSNP:rs34002844).	Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2345G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438270	0.25900	.	.	ENSG00000116128	ENST00000234739	T	0.52526	0.66	5.0	4.09	0.47781	.	0.148378	0.64402	D	0.000013	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999996	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.06679	-1.0813	10	0.51188	T	0.08	-13.7937	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	782;782	Q1JQ81;O00512	.;BCL9_HUMAN	I	782	ENSP00000234739:R782I	ENSP00000234739:R782I	R	+	2	0	BCL9	145558930	1.000000	0.71417	0.686000	0.30086	0.003000	0.03518	6.216000	0.72212	1.351000	0.45789	-0.136000	0.14681	AGA		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		22	167	1	0	1.42536e-11	1	1.52187e-11	22	167					T	147092306	G	T	147092306	3	4	79	1	0	0	0	0	1	0	0	0	1382	942	33	3	2363	3	BCL9	1	147092306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326158	147092306	102158315	1034	11351											
GJA5	2702	broad.mit.edu	37	chr1	147230480	147230480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtctgtgttttgttgGgaggccatattattgctgaa	13	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	289					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.S289S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532																																						ENST00000271348.2																			1	Substitution - coding silent(1)	p.S289S(1)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(865-867)tcC>tcA		gap junction protein, alpha 5, 40kDa							153	149	150					1																	147230480		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230480G>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.867C>A	1.37:g.147230480G>T						RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	p.S289S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1028	-	all_hematologic(923;0.0276)		289					Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.867C>A	CCDS929.1																																																																																				0.532	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		139	503	1	0	1.56226e-53	1	1.94757e-53	139	503					T	147230480	G	T	147230480	2	4	79	1	0	0	0	0	0	0	0	1	6433	1219	43	3		3	GJA5	1	147230480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138174	147230480	102020141	1035	11352											
GJA8	2703	broad.mit.edu	37	chr1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctacatctgccacaTcatcttcaagaccctctttg	6	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000369235.1	+	1	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000240986.4_Missense_Mutation_p.I155T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	155					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCTGCCACATCATCTTCAAG	0.617																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(463-465)aTc>aCc		gap junction protein, alpha 8, 50kDa							113	113	113					1																	147380546		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380546T>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.464T>C	1.37:g.147380546T>C	ENSP00000358238:p.Ile155Thr					GJA8_ENST00000369235.1_Missense_Mutation_p.I155T	p.I155T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	517	+	all_hematologic(923;0.0276)		155					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.464T>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783079	0.70222	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98192	-4.78;-4.78	5.06	5.06	0.68205	.	0.053149	0.64402	D	0.000001	D	0.98563	0.9520	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.99819	1.1046	10	0.87932	D	0	.	14.7852	0.69796	0.0:0.0:0.0:1.0	.	155	P48165	CXA8_HUMAN	T	155	ENSP00000240986:I155T;ENSP00000358238:I155T	ENSP00000240986:I155T	I	+	2	0	GJA8	145847170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.964000	0.87933	1.885000	0.54596	0.402000	0.26972	ATC		0.617	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		157	726	0	0	0	1	0	157	726					C	147380546	T	C	147380546	3	2	79	1	0	0	0	0	1	0	0	0	6434	1435	50	4	466	4	GJA8	1	147380546	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150066	147380546	101870075	1036	11353											
GJA8	2703	broad.mit.edu	37	chr1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccctccactccattgCtgtctcctccatccagaaag	5	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000369235.1	+	1	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000240986.4_Missense_Mutation_p.A256V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	256					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCATTGCTGTCTCCTCC	0.562																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(766-768)gCt>gTt		gap junction protein, alpha 8, 50kDa							50	52	51					1																	147380849		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380849C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.767C>T	1.37:g.147380849C>T	ENSP00000358238:p.Ala256Val					GJA8_ENST00000369235.1_Missense_Mutation_p.A256V	p.A256V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	820	+	all_hematologic(923;0.0276)		256					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.767C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708967	0.48517	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97791	-4.54;-4.54	4.4	4.4	0.53042	.	4.457000	0.00582	N	0.000325	D	0.95287	0.8471	L	0.32530	0.975	0.54753	D	0.999982	P	0.49783	0.928	P	0.45071	0.468	D	0.86106	0.1559	10	0.31617	T	0.26	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	256	P48165	CXA8_HUMAN	V	256	ENSP00000240986:A256V;ENSP00000358238:A256V	ENSP00000240986:A256V	A	+	2	0	GJA8	145847473	1.000000	0.71417	0.887000	0.34795	0.979000	0.70002	4.672000	0.61597	2.267000	0.75376	0.313000	0.20887	GCT		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		66	286	0	0	0	1	0	66	286					T	147380849	C	T	147380849	3	4	79	1	0	0	0	0	1	0	0	0	6434	797	28	2	769	2	GJA8	1	147380849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303	147380849	101869772	1037	11354											
GJA8	2703	broad.mit.edu	37	chr1	147381090	147381090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggagggcgaggggccGcctgcagaggagggagccga	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000369235.1	+	1	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000240986.4_Silent_p.P336P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	336					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGGGCCGCCTGCAGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1006-1008)ccG>ccA		gap junction protein, alpha 8, 50kDa							27	27	27					1																	147381090		2202	4299	6501	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381090G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1008G>A	1.37:g.147381090G>A						GJA8_ENST00000369235.1_Silent_p.P336P	p.P336P	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1061	+	all_hematologic(923;0.0276)		336					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1008G>A	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		24	79	0	0	0	1	0	24	79					A	147381090	G	A	147381090	2	1	79	1	0	0	0	0	0	0	0	1	6434	1074	38	1		1	GJA8	1	147381090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	147381090	101869531	1038	11355											
GJA8	2703	broad.mit.edu	37	chr1	147381177	147381177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcaggagaaggtggcCgtgccagagggggagaaagt	21	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	ENST00000369235.1	+	1	1095	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			1	Substitution - coding silent(1)	p.A365A(1)	pancreas(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1093-1095)gcC>gcT		gap junction protein, alpha 8, 50kDa							46	47	46					1																	147381177		2200	4294	6494	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381177C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1095C>T	1.37:g.147381177C>T						GJA8_ENST00000369235.1_Silent_p.A365A	p.A365A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1148	+	all_hematologic(923;0.0276)		365					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1095C>T	CCDS30834.1																																																																																				0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		13	93	0	0	0	1	0	13	93					T	147381177	C	T	147381177	2	4	79	1	0	0	0	0	0	0	0	1	6434	639	23	1		1	GJA8	1	147381177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	147381177	101869444	1039	11356											
NBPF14	25832	broad.mit.edu	37	chr1	148004691	148004691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctgtagtgctggaatgAgtcaggtagttcaaagtaca	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148004691A>G	ENST00000369219.1	-	22	2639	c.2623T>C	c.(2623-2625)Tca>Cca	p.S875P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	875	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTGGAATGAGTCAGGTAGT	0.438																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2623-2625)Tca>Cca		neuroblastoma breakpoint family, member 14							108	173	152					1																	148004691		2122	4257	6379	SO:0001583	missense	25832					cytoplasm		g.chr1:148004691A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2623T>C	1.37:g.148004691A>G	ENSP00000358221:p.Ser875Pro						p.S875P			Q5TI25	NBPFE_HUMAN			22	2639	-	all_hematologic(923;0.032)		875			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.2623T>C		.	.	.	.	.	.	.	.	.	.	a	4.830	0.154329	0.09236	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.16324	2.35	0.445	-0.891	0.10573	DUF1220 (2);	.	.	.	.	T	0.07234	0.0183	M	0.75264	2.295	0.09310	N	1	B;B;B	0.17852	0.001;0.024;0.006	B;B;B	0.24006	0.005;0.05;0.02	T	0.39231	-0.9624	8	0.59425	D	0.04	.	.	.	.	.	223;856;875	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	P	875;223	ENSP00000358221:S875P	ENSP00000358221:S875P	S	-	1	0	NBPF14	146471315	0.998000	0.40836	0.002000	0.10522	0.010000	0.07245	0.750000	0.26334	-0.415000	0.07484	0.305000	0.20034	TCA		0.438	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		21	1655	0	0	0	1	0	21	1655					G	148004691	A	G	148004691	3	3	79	1	0	0	0	0	1	0	0	0	10236	304	11	4	146	4	NBPF14	1	148004691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	623514	148004691	101245930	1040	11357											
NBPF14	25832	broad.mit.edu	37	chr1	148009417	148009417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtagggctggcatgaGtcagtcagttcaagacaacc	11	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148009417G>T	ENST00000369219.1	-	16	1906	c.1890C>A	c.(1888-1890)gaC>gaA	p.D630E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	630	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTGGCATGAGTCAGTCAGTT	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1888-1890)gaC>gaA		neuroblastoma breakpoint family, member 14							107	217	185					1																	148009417		1681	4055	5736	SO:0001583	missense	25832					cytoplasm		g.chr1:148009417G>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1890C>A	1.37:g.148009417G>T	ENSP00000358221:p.Asp630Glu						p.D630E			Q5TI25	NBPFE_HUMAN			16	1906	-	all_hematologic(923;0.032)		630			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1890C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.08|10.08	1.253160|1.253160	0.22965|0.22965	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.08102|.	3.13|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.36331|0.36331	0.0963|0.0963	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29852|0.29852	-0.9998|-0.9998	4|2	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	630|.	Q5TI25|.	NBPFE_HUMAN|.	E|N	630;220|636	ENSP00000358221:D630E|.	ENSP00000358221:D630E|.	D|T	-|-	3|2	2|0	NBPF14|NBPF14	146476041|146476041	0.929000|0.929000	0.31497|0.31497	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GAC|ACT		0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		27	1611	1	0	7.93312e-07	1	8.20014e-07	27	1611					T	148009417	G	T	148009417	3	4	79	1	0	0	0	0	1	0	0	0	10236	1020	36	3	903	3	NBPF14	1	148009417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4726	148009417	101241204	1041	11358											
NBPF14	25832	broad.mit.edu	37	chr1	148017572	148017572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctgtaagacttgtaCgaggccaacatttcaggagg	13	8	1	1	rs587698470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148017572C>T	ENST00000369219.1	-	6	727	c.711G>A	c.(709-711)tcG>tcA	p.S237S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	237	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACTTGTACGAGGCCAACA	0.478													-|||	2	0.000399361	0.0015	0.0	5008	,	,		46685	0.0		0.0	False		,,,				2504	0.0					ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(709-711)tcG>tcA		neuroblastoma breakpoint family, member 14							41	43	42					1																	148017572		1500	2697	4197	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148017572C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.711G>A	1.37:g.148017572C>T							p.S237S			Q5TI25	NBPFE_HUMAN			6	727	-	all_hematologic(923;0.032)		237			NBPF 2.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.711G>A		.	.	.	.	.	.	.	.	.	.	c	0.702	-0.790535	0.02884	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35724	-0.9777	2	.	.	.	.	.	.	.	.	.	.	.	H	243;248;248;248;248;248;248;248	.	.	R	-	2	0	NBPF14	146484196	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.606000	0.05654	-0.924000	0.03780	-0.976000	0.02587	CGT		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		112	1903	0	0	0	1	0	112	1903					T	148017572	C	T	148017572	2	4	79	1	0	0	0	0	0	0	0	1	10236	523	19	1		1	NBPF14	1	148017572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8155	148017572	101233049	1042	11359											
FCGR1A	2209	broad.mit.edu	37	chr1	149759933	149759933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttcaggctggctactaCtgcaggtctccagcagagtc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	ENST00000369168.4	+	4	373	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	107	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483																																						ENST00000369168.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(319-321)Ctg>Atg		Fc fragment of IgG, high affinity Ia, receptor (CD64)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						85	88	87					1																	149759933		2203	4299	6502	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149759933C>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.319C>A	1.37:g.149759933C>A	ENSP00000358165:p.Leu107Met					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	p.L107M	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN			4	373	+	Breast(34;0.0124)|all_hematologic(923;0.127)		107			Ig-like C2-type 2.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.319C>A	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827463	0.32329	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.21361	2.01;2.01	4.1	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.39091	0.1065	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44097	-0.9350	10	0.87932	D	0	.	8.4097	0.32636	0.0:0.8849:0.0:0.1151	.	107	P12314	FCGR1_HUMAN	M	15;107	ENSP00000394279:L15M;ENSP00000358165:L107M	ENSP00000358165:L107M	L	+	1	2	FCGR1A	148026557	0.994000	0.37717	0.851000	0.33527	0.208000	0.24298	3.516000	0.53436	1.015000	0.39444	0.514000	0.50259	CTG		0.483	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		43	507	1	0	6.83704e-37	1	8.1978e-37	43	507					A	149759933	C	A	149759933	3	1	79	1	0	0	0	0	1	0	0	0	5804	564	20	3	333	3	FCGR1A	1	149759933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1742361	149759933	99490688	1043	11360											
BOLA1	51027	broad.mit.edu	37	chr1	149871987	149871987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctggacactagccccccAtgcctgggtgggaacaagaa	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000369152.5_Silent_p.P125P|BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	125						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(373-375)ccA>ccG		bolA family member 1							27	33	31					1																	149871987		2203	4300	6503	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871987A>G	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.375A>G	1.37:g.149871987A>G						BOLA1_ENST00000369152.5_Silent_p.P125P|BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR	p.P125P			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	1039	+	Breast(34;0.0124)|all_hematologic(923;0.127)		125					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.375A>G	CCDS939.1																																																																																				0.637	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		70	234	0	0	0	1	0	70	234					G	149871987	A	G	149871987	2	3	79	1	0	0	0	0	0	0	0	1	1487	204	8	4		4	BOLA1	1	149871987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112054	149871987	99378634	1044	11361											
MTMR11	10903	broad.mit.edu	37	chr1	149906095	149906095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatcacctggtggctacGtcgaacctctcgttgaccgt	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000439741.2	-	7	922	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000369140.3_Silent_p.D152D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.D224D	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(670-672)gaC>gaT		myotubularin related protein 11							101	97	99					1																	149906095		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149906095G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.672C>T	1.37:g.149906095G>A						MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.D152D	p.D224D	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	922	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		224			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.672C>T	CCDS53360.1																																																																																				0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		120	539	0	0	0	1	0	120	539					A	149906095	G	A	149906095	2	1	79	1	0	0	0	0	0	0	0	1	9981	1136	40	1		1	MTMR11	1	149906095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34108	149906095	99344526	1045	11362											
OTUD7B	56957	broad.mit.edu	37	chr1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctccggggttcctggCagtggactccgcccccagac	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	708					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTTCCTGGCAGTGGACTCC	0.662																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2122-2124)tGc>tAc		OTU domain containing 7B							32	36	35					1																	149916165		1907	4103	6010	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916165C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2123G>A	1.37:g.149916165C>T	ENSP00000358131:p.Cys708Tyr						p.C708Y	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2417	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		708					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2123G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.486588	0.01018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.28069	1.63	4.35	2.4	0.29515	.	0.653611	0.16589	N	0.207856	T	0.03011	0.0089	N	0.03608	-0.345	0.29048	N	0.884704	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	.	.	.	-4.9849	3.2711	0.06882	0.1875:0.5359:0.0:0.2766	.	708	Q6GQQ9	OTU7B_HUMAN	Y	708	ENSP00000358131:C708Y	.	C	-	2	0	OTUD7B	148182789	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.522000	0.35921	0.438000	0.26450	0.450000	0.29827	TGC		0.662	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		94	303	0	0	0	1	0	94	303					T	149916165	C	T	149916165	3	4	79	1	0	0	0	0	1	0	0	0	11361	710	25	2	412	2	OTUD7B	1	149916165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10070	149916165	99334456	1046	11363											
OTUD7B	56957	broad.mit.edu	37	chr1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggcatttccagggggtgCtcattgctccccccaccccc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	125					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGGGGGTGCTCATTGCTCC	0.557																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(373-375)gaG>gaT		OTU domain containing 7B							69	73	72					1																	149939346		1965	4153	6118	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149939346C>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.375G>T	1.37:g.149939346C>A	ENSP00000358131:p.Glu125Asp					OTUD7B_ENST00000479905.1_Intron	p.E125D	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		4	669	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		125					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.375G>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886581	0.72410	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32753	1.44;1.48	5.14	4.21	0.49690	.	0.395933	0.29165	N	0.012952	T	0.20251	0.0487	L	0.51422	1.61	0.53005	D	0.999968	P	0.38992	0.653	B	0.41764	0.366	T	0.01516	-1.1335	9	.	.	.	-11.7346	13.3302	0.60483	0.0:0.922:0.0:0.078	.	125	Q6GQQ9	OTU7B_HUMAN	D	125	ENSP00000358131:E125D;ENSP00000408231:E125D	.	E	-	3	2	OTUD7B	148205970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.341000	0.33907	2.672000	0.90937	0.557000	0.71058	GAG		0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		62	295	1	0	1.12612e-26	1	1.29957e-26	62	295					A	149939346	C	A	149939346	3	1	79	1	0	0	0	0	1	0	0	0	11361	796	28	3	2192	3	OTUD7B	1	149939346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23181	149939346	99311275	1047	11364											
OTUD7B	56957	broad.mit.edu	37	chr1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggcgtgggagatgCccctagacaggcgtttttct	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	98					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGGAGATGCCCCTAGACAG	0.552																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(292-294)gGc>gAc		OTU domain containing 7B							46	51	49					1																	149939428		1958	4155	6113	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149939428C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.293G>A	1.37:g.149939428C>T	ENSP00000358131:p.Gly98Asp					OTUD7B_ENST00000479905.1_Intron	p.G98D	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		4	587	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		98					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.293G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282575	0.80692	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39997	1.05;1.26	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56232	-0.8013	9	.	.	.	-35.5759	13.1151	0.59295	0.0:0.9234:0.0:0.0766	.	98	Q6GQQ9	OTU7B_HUMAN	D	98	ENSP00000358131:G98D;ENSP00000408231:G98D	.	G	-	2	0	OTUD7B	148206052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.454000	0.47793	0.557000	0.71058	GGC		0.552	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		51	255	0	0	0	1	0	51	255					T	149939428	C	T	149939428	3	4	79	1	0	0	0	0	1	0	0	0	11361	739	26	2	2274	2	OTUD7B	1	149939428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	149939428	99311193	1048	11365											
APH1A	51107	broad.mit.edu	37	chr1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccataggccatctggcGgatggagatgggtgatcttc	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000369109.3	-	3	531	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.R115C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	115					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(343-345)Cgc>Tgc		APH1A gamma secretase subunit							37	42	40					1																	150240131		1968	4158	6126	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240131G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.343C>T	1.37:g.150240131G>A	ENSP00000358105:p.Arg115Cys					APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.R115C|APH1A_ENST00000414276.2_Intron	p.R115C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	835	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		115					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.343C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113317	0.77210	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.48522	0.81;0.81;0.81	4.98	4.98	0.66077	.	0.139815	0.49916	D	0.000132	T	0.61677	0.2366	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;D;D	0.65874	0.81;0.857;0.912;0.939	T	0.62120	-0.6921	10	0.40728	T	0.16	-4.3304	15.7896	0.78343	0.0:0.0:1.0:0.0	.	58;115;115;115	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	C	115;115;58	ENSP00000358105:R115C;ENSP00000353380:R115C;ENSP00000236017:R58C	ENSP00000236017:R58C	R	-	1	0	APH1A	148506755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.583000	0.87209	0.491000	0.48974	CGC		0.582	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		16	82	0	0	0	1	0	16	82					A	150240131	G	A	150240131	3	1	79	1	0	0	0	0	1	0	0	0	771	1116	39	1	485	1	APH1A	1	150240131	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300703	150240131	99010490	1049	11366											
APH1A	51107	broad.mit.edu	37	chr1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggcggatggagatgggtGatcttccgtcctcactcagc	13	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000369109.3	-	3	517	c.329C>T	c.(328-330)tCa>tTa	p.S110L	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.S110L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	110					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(328-330)tCa>tTa		APH1A gamma secretase subunit							42	47	46					1																	150240145		1981	4161	6142	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240145G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.329C>T	1.37:g.150240145G>A	ENSP00000358105:p.Ser110Leu					APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.S110L|APH1A_ENST00000414276.2_Intron	p.S110L	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	821	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		110					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.329C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949348	0.34377	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.43294	0.95;0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26011	0.0634	L	0.46614	1.455	0.80722	D	1	B;B;B;P	0.38223	0.12;0.08;0.098;0.623	B;B;B;B	0.37833	0.048;0.104;0.166;0.259	T	0.04153	-1.0973	10	0.31617	T	0.26	-3.7325	15.7896	0.78343	0.0:0.0:1.0:0.0	.	53;110;110;110	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	L	110;110;53	ENSP00000358105:S110L;ENSP00000353380:S110L;ENSP00000236017:S53L	ENSP00000236017:S53L	S	-	2	0	APH1A	148506769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.673000	0.74482	2.583000	0.87209	0.491000	0.48974	TCA		0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		14	83	0	0	0	1	0	14	83					A	150240145	G	A	150240145	3	1	79	1	0	0	0	0	1	0	0	0	771	1294	45	2	499	2	APH1A	1	150240145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	150240145	99010476	1050	11367											
C1orf51	148523	broad.mit.edu	37	chr1	150255695	150255695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatggattctccatctagCgtttcttcctattcctccta	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		6	Ser-rich.				circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(16-18)agC>agT		chromosome 1 open reading frame 51							227	215	219					1																	150255695		2203	4298	6501	SO:0001819	synonymous_variant	148523							g.chr1:150255695C>T																												ENST00000290363.5:c.18C>T	1.37:g.150255695C>T						C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR	p.S6S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	467	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		6			Ser-rich.		B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	c.18C>T	CCDS949.1																																																																																				0.512	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			302	896	0	0	0	1	0	302	896					T	150255695	C	T	150255695	2	4	79	1	0	0	0	0	0	0	0	1	2050	767	27	1		1	C1orf51	1	150255695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15550	150255695	98994926	1051	11368											
MRPS21	54460	broad.mit.edu	37	chr1	150280587	150280587	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgaaaggtgccggcggatCtacaacatggaaatggctcg	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	63					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCGGCGGATCTACAACATGG	0.552																																						ENST00000369084.5																			0				kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(187-189)atC>atA		mitochondrial ribosomal protein S21							62	55	58					1																	150280587		2203	4300	6503	SO:0001819	synonymous_variant	54460				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr1:150280587C>A	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"Mitochondrial ribosomal proteins / small subunits"	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.189C>A	1.37:g.150280587C>A						MRPS21_ENST00000309092.7_Silent_p.I63I	p.I63I			P82921	RT21_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	636	+	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		63					Q5TB11|Q9BST6	Silent	SNP	ENST00000369084.5	37	c.189C>A	CCDS950.1																																																																																				0.552	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		12	343	1	0	0.000978159	1	0.000988919	12	343					A	150280587	C	A	150280587	2	1	79	1	0	0	0	0	0	0	0	1	9873	903	32	3		3	MRPS21	1	150280587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24892	150280587	98970034	1052	11369											
PRPF3	9129	broad.mit.edu	37	chr1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacaaactgtttgaggCtgtggaggaaggccgaagct	16	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	69	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(205-207)gCt>gTt		pre-mRNA processing factor 3							176	165	168					1																	150298269		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150298269C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.206C>T	1.37:g.150298269C>T	ENSP00000315379:p.Ala69Val					PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V	p.A69V	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	3	371	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		69			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.206C>T	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243685	0.22796	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.39592	1.07;1.07	5.57	4.65	0.58169	Splicing factor PWI (4);	0.047154	0.85682	D	0.000000	T	0.13030	0.0316	N	0.16478	0.41	0.80722	D	1	B;B;B	0.25772	0.043;0.134;0.134	B;B;B	0.20577	0.022;0.03;0.03	T	0.05084	-1.0907	10	0.14656	T	0.56	-8.71	14.2142	0.65783	0.0:0.9282:0.0:0.0718	.	69;69;69	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	V	69	ENSP00000315379:A69V;ENSP00000387844:A69V	ENSP00000315379:A69V	A	+	2	0	PRPF3	148564893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.758000	0.68776	2.785000	0.95823	0.655000	0.94253	GCT		0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		147	760	0	0	0	1	0	147	760					T	150298269	C	T	150298269	3	4	79	1	0	0	0	0	1	0	0	0	12612	797	28	2	212	2	PRPF3	1	150298269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17682	150298269	98952352	1053	11370											
PRPF3	9129	broad.mit.edu	37	chr1	150307598	150307598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagaagacatggaatcCaataccttttttgacccccg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.S258S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	307					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(919-921)tcC>tcT		pre-mRNA processing factor 3							91	85	87					1																	150307598		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307598C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.921C>T	1.37:g.150307598C>T						PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.S258S	p.S307S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	1086	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		307					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.921C>T	CCDS951.1																																																																																				0.463	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		19	248	0	0	0	1	0	19	248					T	150307598	C	T	150307598	2	4	79	1	0	0	0	0	0	0	0	1	12612	581	21	2		2	PRPF3	1	150307598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9329	150307598	98943023	1054	11371											
PRPF3	9129	broad.mit.edu	37	chr1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaatcccaagagagaAgattattttggaatcacaaa	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	409					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAAGAGAGAAGATTATTTTG	0.388																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)gaA>gaC		pre-mRNA processing factor 3							80	75	77					1																	150312898		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312898A>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1227A>C	1.37:g.150312898A>C	ENSP00000315379:p.Glu409Asp					PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D	p.E409D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1392	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		409					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1227A>C	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.411230	0.25465	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.85411	-1.98;-1.98	5.67	3.4	0.38934	Pre-mRNA-splicing factor 3 (1);	0.097540	0.64402	D	0.000001	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.20184	0.028;0.016	T	0.61628	-0.7024	10	0.30078	T	0.28	-16.2751	5.3519	0.16040	0.7292:0.0:0.1264:0.1444	.	360;409	E7EVD1;O43395	.;PRPF3_HUMAN	D	409;360	ENSP00000315379:E409D;ENSP00000387844:E360D	ENSP00000315379:E409D	E	+	3	2	PRPF3	148579522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	2.164000	0.68074	0.454000	0.30748	GAA		0.388	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		44	248	0	0	0	1	0	44	248					C	150312898	A	C	150312898	3	2	79	1	0	0	0	0	1	0	0	0	12612	69	3	4	1257	4	PRPF3	1	150312898	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5300	150312898	98937723	1055	11372											
TARS2	80222	broad.mit.edu	37	chr1	150470161	150470161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagctcccagagtgaCgattctaccaggcatatcac	7	16	2	2	rs374221932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150470161C>T	ENST00000369064.3	+	10	1210	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	392					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGAGTGACGATTCTACCA	0.547																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1174-1176)gaC>gaT		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)	C		0,4406		0,0,2203	65	56	59		1176	1.2	0	1		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TARS2	NM_025150.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		392/719	150470161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150470161C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1176C>T	1.37:g.150470161C>T						TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D	p.D392D	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1210	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		392					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1176C>T	CCDS952.1																																																																																				0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		6	189	0	0	0	1	0	6	189					T	150470161	C	T	150470161	2	4	79	1	0	0	0	0	0	0	0	1	15612	535	19	1		1	TARS2	1	150470161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157263	150470161	98780460	1056	11373											
ECM1	1893	broad.mit.edu	37	chr1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccctggaacctaccacagtCcagctactcccacctcactc	4	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	198	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(592-594)tCc>tAc		extracellular matrix protein 1							143	146	145					1																	150483559		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483559C>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.593C>A	1.37:g.150483559C>A	ENSP00000358043:p.Ser198Tyr					ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y	p.S198Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	718	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		198			2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.593C>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672578	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77098	-1.07;-1.07;-1.07	5.04	5.04	0.67666	.	0.632800	0.15972	N	0.235704	T	0.81697	0.4877	L	0.53249	1.67	0.38322	D	0.943551	D;D;D;D;D;D	0.71674	0.995;0.998;0.991;0.998;0.993;0.998	D;D;P;D;P;D	0.68483	0.913;0.914;0.904;0.958;0.827;0.958	T	0.83003	-0.0176	10	0.87932	D	0	-4.0979	13.7487	0.62894	0.0:1.0:0.0:0.0	.	120;127;225;198;198;198	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Y	225;198;198	ENSP00000358045:S225Y;ENSP00000358043:S198Y;ENSP00000271630:S198Y	ENSP00000271630:S198Y	S	+	2	0	ECM1	148750183	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	2.324000	0.43831	2.640000	0.89533	0.655000	0.94253	TCC		0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		87	1273	1	0	3.37043e-27	1	3.8985e-27	87	1273					A	150483559	C	A	150483559	3	1	79	1	0	0	0	0	1	0	0	0	4913	855	30	3	615	3	ECM1	1	150483559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13398	150483559	98767062	1057	11374											
ECM1	1893	broad.mit.edu	37	chr1	150485713	150485713	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttctcattcatcagAaattaaccttcatcaatgat	2	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000369049.4_Splice_Site_p.K492Q|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	465					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.e10-1		extracellular matrix protein 1							115	114	114					1																	150485713		2203	4300	6503	SO:0001630	splice_region_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485713A>C	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1393-1A>C	1.37:g.150485713A>C						ECM1_ENST00000369049.4_Splice_Site_p.K492_splice|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340_splice	p.K465_splice	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1518	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		465					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Splice_Site	SNP	ENST00000369047.4	37	c.1392_splice	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674109	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.80653	-1.4;-1.4;-1.4	4.85	4.85	0.62838	.	0.464588	0.22030	N	0.065614	T	0.81148	0.4762	L	0.56769	1.78	0.32759	N	0.505366	D;D;D	0.71674	0.994;0.998;0.987	P;D;P	0.65987	0.869;0.94;0.783	T	0.80763	-0.1237	9	.	.	.	-7.8259	10.7452	0.46177	1.0:0.0:0.0:0.0	.	492;340;465	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	492;465;340	ENSP00000358045:K492Q;ENSP00000358043:K465Q;ENSP00000271630:K340Q	.	K	+	1	0	ECM1	148752337	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.947000	0.56652	2.026000	0.59711	0.460000	0.39030	AAA		0.493	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	Missense_Mutation	104	274	0	0	0	1	0	104	274					C	150485713	A	C	150485713	5	2	79	1	0	0	0	0	0	0	1	0	4913	260	9	4	1431	4	ECM1	1	150485713	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2154	150485713	98764908	1058	11375											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525688	150525688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggtcccgcttcccaCctagggagagaggagaccca	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000369038.2	+	3	594	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000369041.5_Silent_p.H131H|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000271643.4_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	131					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGCTTCCCACCTAGGGAGAG	0.642																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(391-393)caC>caT		ADAMTS-like 4							26	30	29					1																	150525688		2190	4283	6473	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525688C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.393C>T	1.37:g.150525688C>T						RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.H131H|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H	p.H131H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	629	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		131					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.393C>T	CCDS955.1																																																																																				0.642	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		56	327	0	0	0	1	0	56	327					T	150525688	C	T	150525688	2	4	79	1	0	0	0	0	0	0	0	1	277	506	18	2		2	ADAMTSL4	1	150525688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39975	150525688	98724933	1059	11376											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525719	150525719	+	Missense_Mutation	SNP	G	G	T													aggagacccaggagattcgaGcggccaggaggtgagaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525719G>T	ENST00000369038.2	+	3	625	c.424G>T	c.(424-426)Gcg>Tcg	p.A142S	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A142S|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	142					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGATTCGAGCGGCCAGGAG	0.632																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(424-426)Gcg>Tcg		ADAMTS-like 4							19	22	21					1																	150525719		2188	4281	6469	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525719G>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.424G>T	1.37:g.150525719G>T	ENSP00000358034:p.Ala142Ser					RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S	p.A142S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	660	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		142					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.424G>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057628	0.19907	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61510	0.2;0.1;0.39;0.1	4.24	3.3	0.37823	.	.	.	.	.	T	0.16685	0.0401	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.19200	0.006;0.013;0.018;0.034	B;B;B;B	0.24394	0.008;0.037;0.01;0.053	T	0.18116	-1.0347	9	0.54805	T	0.06	.	8.3419	0.32249	0.1165:0.0:0.8835:0.0	.	142;142;142;142	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	S	142	ENSP00000358037:A142S;ENSP00000271643:A142S;ENSP00000358035:A142S;ENSP00000358034:A142S	ENSP00000271643:A142S	A	+	1	0	ADAMTSL4	148792343	0.013000	0.17824	0.022000	0.16811	0.095000	0.18619	1.985000	0.40668	1.911000	0.55334	0.561000	0.74099	GCG		0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		15	258	1	0	2.61681e-11	1	2.78987e-11	15	258					T	150525719	G	T	150525719	3	4	79	1	0	0	0	0	1	0	0	0	277	971	34	3	434	3	ADAMTSL4	1	150525719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	150525719	98724902	1060	11377	71	2									
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525729	150525729	+	Splice_Site	SNP	G	G	T													ggagattcgagcggccaggaGgtgagaggcctgggtggaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000369038.2	+	3	635	c.434G>T	c.(433-435)aGg>aTg	p.R145M	ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	145					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGGCCAGGAGGTGAGAGGCC	0.632																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.e5+1		ADAMTS-like 4							17	20	19					1																	150525729		2189	4285	6474	SO:0001630	splice_region_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525729G>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.434+1G>T	1.37:g.150525729G>T						RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Splice_Site_p.R145_splice|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145_splice|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145_splice	p.R145_splice	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	670	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		145					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Splice_Site	SNP	ENST00000369038.2	37	c.434_splice	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714946	0.68844	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72167	-0.58;-0.63;-0.37;-0.63	4.46	4.46	0.54185	.	.	.	.	.	T	0.76499	0.3996	M	0.63843	1.955	0.39085	D	0.960988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.79869	-0.1621	9	0.66056	D	0.02	.	12.603	0.56506	0.0:0.0:1.0:0.0	.	145;145;145;145	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	145	ENSP00000358037:R145M;ENSP00000271643:R145M;ENSP00000358035:R145M;ENSP00000358034:R145M	ENSP00000271643:R145M	R	+	2	0	ADAMTSL4	148792353	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	4.520000	0.60524	2.029000	0.59856	0.561000	0.74099	AGG		0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	Missense_Mutation	33	227	1	0	1.80694e-10	1	1.9163e-10	33	227					T	150525729	G	T	150525729	5	4	79	1	0	0	0	0	0	0	1	0	277	1014	35	3	444	3	ADAMTSL4	1	150525729	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	150525729	98724892	1061	11378	71	2									
MCL1	4170	broad.mit.edu	37	chr1	150551721	150551721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgcgaagaaaagcaGcctcgcgggggtcgcggtga	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	96					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGAAAAGCAGCCTCGCGGGG	0.741																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(286-288)Ctg>Ttg		myeloid cell leukemia sequence 1 (BCL2-related)							4	6	5					1																	150551721		1735	3755	5490	SO:0001819	synonymous_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551721G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.286C>T	1.37:g.150551721G>A						MCL1_ENST00000307940.3_Silent_p.L96L	p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	345	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		96					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	c.286C>T	CCDS957.1																																																																																				0.741	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		19	61	0	0	0	1	0	19	61					A	150551721	G	A	150551721	2	1	79	1	0	0	0	0	0	0	0	1	9425	962	34	2		2	MCL1	1	150551721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25992	150551721	98698900	1062	11379											
ENSA	2029	broad.mit.edu	37	chr1	150598174	150598174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagatcctgtggggtGgggatgtgatcaccagtcac	17	8	2	2	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000369014.5	-	3	419	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000369016.4_Silent_p.P114P			O43768	ENSA_HUMAN	endosulfine alpha	98					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTGGGGTGGGGATGTGAT	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18647	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(188;763 2078 3002 3411 26027)	ENST00000271690.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4						c.(292-294)ccC>ccT		endosulfine alpha		G	,,,,,,	11,4395	17.9+/-39.9	0,11,2192	108	92	97		294,342,342,294,330,282,282	3.4	1	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENSA	NM_004436.2,NM_207042.1,NM_207043.1,NM_207044.1,NM_207045.1,NM_207046.1,NM_207047.1	,,,,,,	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,,,,,,	98/122,114/138,114/134,98/118,110/134,94/118,94/114	150598174	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2029				cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	g.chr1:150598174G>A	X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.294C>T	1.37:g.150598174G>A						ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369014.5_Silent_p.P98P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Silent_p.P94P	p.P98P	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	400	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		98					A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Silent	SNP	ENST00000369014.5	37	c.294C>T	CCDS958.1																																																																																				0.567	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	NM_207042		10	295	0	0	0	1	0	10	295					A	150598174	G	A	150598174	2	1	79	1	0	0	0	0	0	0	0	1	5154	1335	47	2		2	ENSA	1	150598174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46453	150598174	98652447	1063	11380											
GOLPH3L	55204	broad.mit.edu	37	chr1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccttccacttcagggtCcagttctactaagtccttgg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	261					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCAGGGTCCAGTTCTACT	0.488																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(781-783)Gac>Aac		golgi phosphoprotein 3-like							131	121	125					1																	150620874		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150620874C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.781G>A	1.37:g.150620874C>T	ENSP00000271732:p.Asp261Asn					GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	p.D261N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	825	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		261					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.781G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851878	0.71719	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	4.49	0.54785	.	0.054669	0.64402	D	0.000001	T	0.60612	0.2282	M	0.91768	3.24	0.52501	D	0.999956	P;B	0.38729	0.644;0.002	B;B	0.40444	0.329;0.001	T	0.69461	-0.5139	9	0.54805	T	0.06	-15.6672	8.8888	0.35420	0.1512:0.7702:0.0:0.0786	.	217;261	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	261;283;217	.	ENSP00000271732:D261N	D	-	1	0	GOLPH3L	148887498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.832000	0.97577	0.655000	0.94253	GAC		0.488	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		117	364	0	0	0	1	0	117	364					T	150620874	C	T	150620874	3	4	79	1	0	0	0	0	1	0	0	0	6598	855	30	2	80	2	GOLPH3L	1	150620874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	150620874	98629747	1064	11381											
CTSS	1520	broad.mit.edu	37	chr1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatgattcacattctgaGtacaggatggttcatagtag	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000448301.2_Missense_Mutation_p.T223I|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	273					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(817-819)aCt>aTt		cathepsin S							127	122	124					1																	150720331		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150720331G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.818C>T	1.37:g.150720331G>A	ENSP00000357981:p.Thr273Ile					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	p.T273I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		7	1078	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		273					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.818C>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341288	0.41498	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.87412	-2.25;1.91	5.4	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.269717	0.41605	D	0.000842	D	0.86029	0.5835	N	0.26130	0.795	0.41652	D	0.989139	D;P	0.67145	0.996;0.883	D;P	0.70935	0.971;0.738	D	0.88321	0.2962	10	0.87932	D	0	.	13.6284	0.62181	0.0:0.0:0.8444:0.1556	.	223;273	B4DWC9;P25774	.;CATS_HUMAN	I	223;273	ENSP00000408414:T223I;ENSP00000357981:T273I	ENSP00000357981:T273I	T	-	2	0	CTSS	148986955	0.920000	0.31207	0.940000	0.37924	0.066000	0.16364	1.569000	0.36428	2.521000	0.84997	0.655000	0.94253	ACT		0.343	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		99	457	0	0	0	1	0	99	457					A	150720331	G	A	150720331	3	1	79	1	0	0	0	0	1	0	0	0	4052	1029	36	2	185	2	CTSS	1	150720331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99457	150720331	98530290	1065	11382											
CTSS	1520	broad.mit.edu	37	chr1	150724344	150724344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcatgaagccaccattGcagcctttgtttccatattt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000448301.2_Silent_p.C130C|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	180					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(538-540)tgC>tgT		cathepsin S							225	200	208					1																	150724344		2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724344G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.540C>T	1.37:g.150724344G>A						CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	p.C180C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	800	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		180					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.540C>T	CCDS968.1																																																																																				0.488	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		106	577	0	0	0	1	0	106	577					A	150724344	G	A	150724344	2	1	79	1	0	0	0	0	0	0	0	1	4052	1311	46	2		2	CTSS	1	150724344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4013	150724344	98526277	1066	11383											
SETDB1	9869	broad.mit.edu	37	chr1	150915038	150915038	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactttgcttcttctataGgaaccttgagtcagatgtct	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150915038G>T	ENST00000271640.5	+	6	737		c.e6-1		SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000368963.1_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTCTATAGGAACCTTGAG	0.423																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.e6-1		SET domain, bifurcated 1							94	92	93					1																	150915038		2203	4300	6503	SO:0001630	splice_region_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150915038G>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.548-1G>T	1.37:g.150915038G>T						SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Splice_Site		NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	737	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	SNP	ENST00000271640.5	37		CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970091	0.53614	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7031	0.69168	0.0:0.1458:0.8542:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SETDB1	149181662	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.689000	0.61723	2.906000	0.99361	0.655000	0.94253	.		0.423	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	38	515	1	0	3.61848e-18	1	4.01023e-18	38	515					T	150915038	G	T	150915038	5	4	79	1	0	0	0	0	0	0	1	0	14188	1014	35	3	565	3	SETDB1	1	150915038	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190694	150915038	98335583	1067	11384											
LASS2	29956	broad.mit.edu	37	chr1	150940918	150940918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaatgttccaaggtggCgttgggaggtgcccgcagcc	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150940918C>T	ENST00000271688.6	-	3	630	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A82T|CERS2_ENST00000368954.5_Missense_Mutation_p.A82T|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	82					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TCCAAGGTGGCGTTGGGAGGT	0.557																																						ENST00000271688.6																			0											c.(244-246)Gcc>Acc		ceramide synthase 2							83	77	79					1																	150940918		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940918C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.244G>A	1.37:g.150940918C>T	ENSP00000271688:p.Ala82Thr					CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.A82T|CERS2_ENST00000561294.1_Missense_Mutation_p.A82T	p.A82T	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			3	630	-			82					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.244G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745555	0.49151	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.08	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053822	0.85682	D	0.000000	T	0.08626	0.0214	N	0.25890	0.77	0.43569	D	0.995897	B	0.13145	0.007	B	0.13407	0.009	T	0.07328	-1.0778	10	0.28530	T	0.3	-10.074	13.8461	0.63468	0.0:0.4626:0.5374:0.0	.	82	Q96G23	CERS2_HUMAN	T	82;82;102;82;82;82	ENSP00000357950:A82T;ENSP00000271688:A82T;ENSP00000357945:A102T;ENSP00000355020:A82T;ENSP00000393239:A82T;ENSP00000394012:A82T	ENSP00000271688:A82T	A	-	1	0	CERS2	149207542	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.063000	0.49978	1.385000	0.46445	0.655000	0.94253	GCC		0.557	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		57	222	0	0	0	1	0	57	222					T	150940918	C	T	150940918	3	4	79	1	0	0	0	0	1	0	0	0	8670	768	27	1	934	1	LASS2	1	150940918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25880	150940918	98309703	1068	11385											
ANXA9	8416	broad.mit.edu	37	chr1	150957102	150957102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccattgaaattcttgCcactcgaaccccaccccagc	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150957102C>T	ENST00000368947.4	+	7	898	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	141					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAATTCTTGCCACTCGAACC	0.537																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(421-423)gCc>gTc		annexin A9							60	56	57					1																	150957102		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150957102C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.422C>T	1.37:g.150957102C>T	ENSP00000357943:p.Ala141Val						p.A141V	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	898	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		141					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.422C>T	CCDS975.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803796	0.70682	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.44	5.44	0.79542	.	0.279248	0.30930	N	0.008584	T	0.04182	0.0116	L	0.41124	1.26	0.39600	D	0.969713	P	0.47484	0.896	P	0.50754	0.649	T	0.46247	-0.9205	10	0.52906	T	0.07	.	15.1077	0.72334	0.0:1.0:0.0:0.0	.	141	O76027	ANXA9_HUMAN	V	141	ENSP00000357943:A141V	ENSP00000357943:A141V	A	+	2	0	ANXA9	149223726	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.899000	0.56288	2.700000	0.92200	0.655000	0.94253	GCC		0.537	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		6	177	0	0	0	1	0	6	177					T	150957102	C	T	150957102	3	4	79	1	0	0	0	0	1	0	0	0	725	739	26	2	440	2	ANXA9	1	150957102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16184	150957102	98293519	1069	11386											
C1orf56	54964	broad.mit.edu	37	chr1	151021076	151021076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagccttgcacctatcaAcaatgtccctgcaaccgact	5	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	251						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			1	Substitution - coding silent(1)	p.Q251Q(1)	kidney(1)	endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(751-753)caA>caG		chromosome 1 open reading frame 56							125	131	129					1																	151021076		2203	4300	6503	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151021076A>G	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	1.37:g.151021076A>G			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.Q251Q	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	861	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		251					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.753A>G	CCDS980.1																																																																																				0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		310	904	0	0	0	1	0	310	904					G	151021076	A	G	151021076	2	3	79	1	0	0	0	0	0	0	0	1	2055	40	2	4		4	C1orf56	1	151021076	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63974	151021076	98229545	1070	11387											
SEMA6C	10500	broad.mit.edu	37	chr1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcggagggagagagggcGcgggagccccggagtctcga	20	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGAGAGGGCGCGGGAGCCCC	0.721																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1939-1941)Cgc>Tgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							12	17	15					1																	151105814		2183	4269	6452	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105814G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1939C>T	1.37:g.151105814G>A	ENSP00000344148:p.Arg647Cys						p.R647C			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3630	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		647					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1939C>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933014	0.73442	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63343	0.2503	N	0.21282	0.65	0.45108	D	0.998121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.94;0.988	T	0.59941	-0.7359	10	0.49607	T	0.09	.	8.7857	0.34818	0.0:0.0:0.7751:0.2249	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	C	647;639;679;647	ENSP00000357910:R647C;ENSP00000357908:R639C;ENSP00000357909:R679C;ENSP00000344148:R647C	ENSP00000344148:R647C	R	-	1	0	SEMA6C	149372438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.046000	0.57376	1.999000	0.58509	0.561000	0.74099	CGC		0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		23	72	0	0	0	1	0	23	72					A	151105814	G	A	151105814	3	1	79	1	0	0	0	0	1	0	0	0	14091	1087	38	1	857	1	SEMA6C	1	151105814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84738	151105814	98144807	1071	11388											
SEMA6C	10500	broad.mit.edu	37	chr1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggggtcctggggaaaggCggcctgagtatggggaagtg	22	5	0	1	rs373129237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	25					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGGGAAAGGCGGCCTGAGTA	0.607																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(73-75)Gcc>Acc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52	54	53		73,73,73	0.4	0.5	1		53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	25/963,25/923,25/931	151115025	1,13005	2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151115025C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.73G>A	1.37:g.151115025C>T	ENSP00000344148:p.Ala25Thr						p.A25T			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1764	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		25					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.73G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136424	0.21123	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18657	2.2;2.42;2.23;2.2	4.69	0.448	0.16614	.	0.900793	0.09727	N	0.763666	T	0.02848	0.0085	N	0.12182	0.205	0.20074	N	0.999937	B;B;B;B	0.31817	0.011;0.341;0.076;0.066	B;B;B;B	0.19148	0.006;0.024;0.021;0.01	T	0.40553	-0.9557	10	0.40728	T	0.16	.	6.1663	0.20392	0.0:0.5412:0.0:0.4588	.	25;25;25;25	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	25	ENSP00000357910:A25T;ENSP00000357908:A25T;ENSP00000357909:A25T;ENSP00000344148:A25T	ENSP00000344148:A25T	A	-	1	0	SEMA6C	149381649	0.057000	0.20700	0.453000	0.27007	0.785000	0.44390	0.048000	0.14078	0.231000	0.21079	0.462000	0.41574	GCC		0.607	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		38	169	0	0	0	1	0	38	169					T	151115025	C	T	151115025	3	4	79	1	0	0	0	0	1	0	0	0	14091	768	27	1	2887	1	SEMA6C	1	151115025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9211	151115025	98135596	1072	11389											
ZNF687	57592	broad.mit.edu	37	chr1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaacactgtgtgtcccgaGcagtctgaggccctggctgg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TGTGTCCCGAGCAGTCTGAGG	0.602																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(277-279)gaG>gaT		zinc finger protein 687							53	57	56					1																	151259046		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259046G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.279G>T	1.37:g.151259046G>T	ENSP00000357874:p.Glu93Asp						p.E93D	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	377	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		93					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810743	0.32053	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01119	5.31;5.31;5.63	4.32	1.17	0.20885	.	0.000000	0.35585	N	0.003114	T	0.00754	0.0025	L	0.39898	1.24	0.30252	N	0.794028	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.42085	-0.9472	10	0.07644	T	0.81	.	4.2579	0.10726	0.3087:0.0:0.5254:0.1658	.	93;93;93	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	102;93;93;93	ENSP00000336620:E93D;ENSP00000319829:E93D;ENSP00000357874:E93D	ENSP00000319829:E93D	E	+	3	2	ZNF687	149525670	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	2.986000	0.49370	0.476000	0.27440	0.313000	0.20887	GAG		0.602	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		63	357	1	0	5.73332e-34	1	6.80828e-34	63	357					T	151259046	G	T	151259046	3	4	79	1	0	0	0	0	1	0	0	0	18145	962	34	3	281	3	ZNF687	1	151259046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144021	151259046	97991575	1073	11390											
ZNF687	5298	broad.mit.edu	37	chr1	151262958	151262958	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcctgatcctagagaAacatgtccaggtccggcacg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151262958A>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.E1063D			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)			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)			ATCCTAGAGAAACATGTCCAG	0.637																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(3187-3189)gaA>gaC		zinc finger protein 687							71	78	76					1																	151262958		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262958A>C	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.151262958A>C							p.E1063D	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	3287	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		172					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3189A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.01|19.01	3.744875|3.744875	0.69418|0.69418	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000368879|ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614	T|T;T	0.00638|0.01099	6.04|5.34;5.34	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Zinc finger, C2H2-like (1);	.|0.000000	.|0.36066	.|U	.|0.002808	T|T	0.01976|0.01976	0.0062|0.0062	L|L	0.56769|0.56769	1.78|1.78	0.26698|0.26698	N|N	0.971216|0.971216	D|D	0.69078|0.89917	0.997|1.0	D|D	0.64042|0.66084	0.921|0.941	T|T	0.48210|0.48210	-0.9055|-0.9055	9|10	0.08599|0.41790	T|T	0.76|0.15	.|.	12.8664|12.8664	0.57941|0.57941	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1063|1043	Q8N1G0-2|Q8N1G0	.|ZN687_HUMAN	D|T	1063|1043;1043;666;11	ENSP00000357874:E1063D|ENSP00000336620:K1043T;ENSP00000319829:K1043T	ENSP00000357874:E1063D|ENSP00000319829:K1043T	E|K	+|+	3|2	2|0	ZNF687|ZNF687	149529582|149529582	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.989000|4.989000	0.63870|0.63870	2.129000|2.129000	0.65627|0.65627	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.637	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		81	610	0	0	0	1	0	81	610					C	151262958	A	C	151262958	1	2	79	0	1	0	0	0	0	0	0	0	18145	14	1	4		4	ZNF687	1	151262958	IGR	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3912	151262958	97987663	1074	11391											
RFX5	5993	broad.mit.edu	37	chr1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttacttctgggcccatttCtggctgaagtggggaaggac	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	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)			GGGCCCATTTCTGGCTGAAGT	0.532																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(559-561)Gaa>Taa		regulatory factor X, 5 (influences HLA class II expression)							57	54	55					1																	151316355		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316355C>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.559G>T	1.37:g.151316355C>A	ENSP00000290524:p.Glu187*					RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	737	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		187					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.559G>T	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406966	0.97542	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	.	.	.	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	.	.	.	X	187;187;79;187;147;187;187	.	ENSP00000290524:E187X	E	-	1	0	RFX5	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA		0.532	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		77	233	1	0	5.32961e-40	1	6.45334e-40	77	233					A	151316355	C	A	151316355	4	1	79	1	0	0	0	0	0	1	0	0	13316	922	32	3	1303	3	RFX5	1	151316355	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53397	151316355	97934266	1075	11392											
POGZ	23126	broad.mit.edu	37	chr1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcaggaagttcttgacaGttcttttgatgcatacatct	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1271	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GTTCTTGACAGTTCTTTTGAT	0.478																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3811-3813)aCt>aTt		pogo transposable element with ZNF domain							174	175	175					1																	151377699		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377699G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3812C>T	1.37:g.151377699G>A	ENSP00000271715:p.Thr1271Ile					POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I	p.T1271I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4126	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1271			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3812C>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848517	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.08	6.08	0.98989	.	0.075082	0.56097	D	0.000031	T	0.34077	0.0885	N	0.08118	0	0.32220	N	0.575412	P;P;D;D;B;P	0.67145	0.481;0.481;0.996;0.996;0.426;0.481	B;B;D;D;B;B	0.64144	0.22;0.22;0.922;0.922;0.14;0.22	T	0.39522	-0.9610	10	0.49607	T	0.09	-17.7954	19.2359	0.93858	0.0:0.0:1.0:0.0	.	1209;1262;1176;1227;1218;1271	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	I	1218;1271;1218;1176;1262;1209;633;1227	ENSP00000376484:T1218I;ENSP00000271715:T1271I;ENSP00000354467:T1218I;ENSP00000357856:T1176I;ENSP00000386836:T1262I;ENSP00000431259:T1209I;ENSP00000443547:T633I;ENSP00000418408:T1227I	ENSP00000271715:T1271I	T	-	2	0	POGZ	149644323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.115000	0.64655	2.894000	0.99253	0.591000	0.81541	ACT		0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		200	1017	0	0	0	1	0	200	1017					A	151377699	G	A	151377699	3	1	79	1	0	0	0	0	1	0	0	0	12228	1029	36	2	424	2	POGZ	1	151377699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61344	151377699	97872922	1076	11393											
POGZ	23126	broad.mit.edu	37	chr1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaagtgagtgcgatgacaGtccatcacaagcatgccttt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1229	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			TGCGATGACAGTCCATCACAA	0.532																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3685-3687)gaC>gaA		pogo transposable element with ZNF domain							103	93	97					1																	151377824		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377824G>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3687C>A	1.37:g.151377824G>T	ENSP00000271715:p.Asp1229Glu					POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E	p.D1229E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4001	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1229			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3687C>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332214	0.60853	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.72228	0.3434	M	0.66297	2.02	0.45005	D	0.998021	D;D;D;D;D;D	0.76494	0.999;0.999;0.996;0.996;0.99;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.987;0.987;0.98;0.997	T	0.74777	-0.3550	10	0.87932	D	0	-22.2533	13.2928	0.60280	0.0761:0.0:0.9239:0.0	.	1167;1220;1134;1185;1176;1229	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	1176;1229;1176;1134;1220;1167;591;1185	ENSP00000376484:D1176E;ENSP00000271715:D1229E;ENSP00000354467:D1176E;ENSP00000357856:D1134E;ENSP00000386836:D1220E;ENSP00000431259:D1167E;ENSP00000443547:D591E;ENSP00000418408:D1185E	ENSP00000271715:D1229E	D	-	3	2	POGZ	149644448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.439000	0.52878	2.838000	0.97847	0.591000	0.81541	GAC		0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	479	1	0	5.50884e-06	1	5.65664e-06	12	479					T	151377824	G	T	151377824	3	4	79	1	0	0	0	0	1	0	0	0	12228	1020	36	3	549	3	POGZ	1	151377824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	151377824	97872797	1077	11394											
CGN	57530	broad.mit.edu	37	chr1	151493070	151493070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccccccatatctctggcAgatggtttcttctggttcta	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin						transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.e5-1		cingulin							85	78	80					1																	151493070		2203	4300	6503	SO:0001630	splice_region_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151493070A>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1045-1A>G	1.37:g.151493070A>G								NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1177	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							A6H8L3|A7MD22|Q5T386|Q9NR25	Splice_Site	SNP	ENST00000271636.7	37		CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146167	0.37923	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4399	0.16501	0.7356:0.1773:0.0871:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149759694	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.192000	0.65115	2.192000	0.70111	0.533000	0.62120	.		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	Intron	42	123	0	0	0	1	0	42	123					G	151493070	A	G	151493070	5	3	79	1	0	0	0	0	0	0	1	0	3312	202	7	4	1057	4	CGN	1	151493070	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115246	151493070	97757551	1078	11395											
CGN	57530	broad.mit.edu	37	chr1	151497153	151497153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttattttctccaggacCtgttagagacccgggaactt	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	463	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1405-1407)Ctg>Ttg		cingulin							16	18	17					1																	151497153		2199	4296	6495	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151497153C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1405C>T	1.37:g.151497153C>T							p.L469L	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1538	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		463			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.1405C>T	CCDS999.1																																																																																				0.478	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		25	100	0	0	0	1	0	25	100					T	151497153	C	T	151497153	2	4	79	1	0	0	0	0	0	0	0	1	3312	680	24	2		2	CGN	1	151497153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4083	151497153	97753468	1079	11396											
TDRKH	11022	broad.mit.edu	37	chr1	151751711	151751711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaacgaattgtctcgccGcctctccctacattaaacaa	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368824.3_Silent_p.G143G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	143	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(427-429)ggC>ggT		tudor and KH domain containing							86	80	82					1																	151751711		1856	4088	5944	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151751711G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.429C>T	1.37:g.151751711G>A						TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G	p.G143G			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1062	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		143			KH 2.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.429C>T	CCDS41394.1																																																																																				0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		60	322	0	0	0	1	0	60	322					A	151751711	G	A	151751711	2	1	79	1	0	0	0	0	0	0	0	1	15789	1074	38	1		1	TDRKH	1	151751711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254558	151751711	97498910	1080	11397											
LINGO4	339398	broad.mit.edu	37	chr1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcttggcagtgacccGgttacccccagagtttttat	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	587						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1759-1761)Cgg>Tgg		leucine rich repeat and Ig domain containing 4							56	60	59					1																	151773422		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151773422G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1759C>T	1.37:g.151773422G>A	ENSP00000357810:p.Arg587Trp						p.R587W	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2696	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		587						Missense_Mutation	SNP	ENST00000368820.3	37	c.1759C>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186448	0.57909	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.32	3.37	0.38596	.	0.000000	0.43260	D	0.000596	T	0.56863	0.2014	L	0.46157	1.445	0.40508	D	0.980719	D	0.89917	1.0	D	0.69654	0.965	T	0.62534	-0.6834	10	0.87932	D	0	.	11.2733	0.49153	0.0:0.0:0.5399:0.4601	.	587	Q6UY18	LIGO4_HUMAN	W	587	ENSP00000357810:R587W	ENSP00000357810:R587W	R	-	1	2	LINGO4	150040046	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	1.391000	0.34475	0.744000	0.32741	0.655000	0.94253	CGG		0.542	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		135	377	0	0	0	1	0	135	377					A	151773422	G	A	151773422	3	1	79	1	0	0	0	0	1	0	0	0	8850	1115	39	1	26	1	LINGO4	1	151773422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21711	151773422	97477199	1081	11398											
LINGO4	339398	broad.mit.edu	37	chr1	151773618	151773618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaaaaaaaggccctggGatccctggcacggtgatgtt	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	521						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1561-1563)atC>atT		leucine rich repeat and Ig domain containing 4							142	148	146					1																	151773618		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151773618G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1563C>T	1.37:g.151773618G>A							p.I521I	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2500	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		521						Silent	SNP	ENST00000368820.3	37	c.1563C>T	CCDS30855.1																																																																																				0.577	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		208	915	0	0	0	1	0	208	915					A	151773618	G	A	151773618	2	1	79	1	0	0	0	0	0	0	0	1	8850	1164	41	2		2	LINGO4	1	151773618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	151773618	97477003	1082	11399											
LINGO4	339398	broad.mit.edu	37	chr1	151775046	151775046	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagttgcctgtggccacaGagcacagcctggggctggga	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775046G>T	ENST00000368820.3	-	2	1072	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	45	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGGCCACAGAGCACAGCCT	0.662																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(133-135)ctC>ctA		leucine rich repeat and Ig domain containing 4							30	21	24					1																	151775046		2199	4298	6497	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151775046G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.135C>A	1.37:g.151775046G>T							p.L45L	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1072	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		45			LRRNT.			Silent	SNP	ENST00000368820.3	37	c.135C>A	CCDS30855.1																																																																																				0.662	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	72	1	0	8.12818e-05	1	8.2724e-05	7	72					T	151775046	G	T	151775046	2	4	79	1	0	0	0	0	0	0	0	1	8850	929	33	3		3	LINGO4	1	151775046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1428	151775046	97475575	1083	11400											
RORC	6097	broad.mit.edu	37	chr1	151785743	151785743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacagctccatgccaccGtatttgccttcaaaaaagac	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000318247.6	-	8	1253	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Silent_p.Y361Y|RORC_ENST00000392697.3_Silent_p.Y436Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	382	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGCCACCGTATTTGCCTT	0.562																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1081-1083)taC>taT		RAR-related orphan receptor C							234	235	234					1																	151785743		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785743G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1146C>T	1.37:g.151785743G>A						RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Silent_p.Y382Y	p.Y361Y	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1237	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		382			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.1083C>T	CCDS1004.1																																																																																				0.562	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			67	1726	0	0	0	1	0	67	1726					A	151785743	G	A	151785743	2	1	79	1	0	0	0	0	0	0	0	1	13580	1140	40	1		1	RORC	1	151785743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10697	151785743	97464878	1084	11401											
RORC	6097	broad.mit.edu	37	chr1	151787891	151787891	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcttggacatgcggccGaacttgacagctgaaagagg	13	9	1	3	rs267598021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000318247.6	-	5	416	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Silent_p.F82F|RORC_ENST00000392697.3_Silent_p.F157F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	103	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(244-246)ttC>ttT		RAR-related orphan receptor C							43	41	42					1																	151787891		2202	4298	6500	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787891G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.309C>T	1.37:g.151787891G>A						RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000318247.6_Silent_p.F103F	p.F82F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	400	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		103					Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.246C>T	CCDS1004.1																																																																																				0.552	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			49	260	0	0	0	1	0	49	260					A	151787891	G	A	151787891	2	1	79	1	0	0	0	0	0	0	0	1	13580	1049	37	1		1	RORC	1	151787891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2148	151787891	97462730	1085	11402											
S100A11	6282	broad.mit.edu	37	chr1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggacaccagggtcctTctggttctgcagagaaaata	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	55	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403																																					Colon(152;1751 1834 12462 21158 46902)	ENST00000271638.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(163-165)Aag>Gag		S100 calcium binding protein A11							67	65	66					1																	152005293		2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152005293T>C	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"S100 calcium binding proteins", "EF-hand domain containing"	10488	protein-coding gene	gene with protein product		603114	"S100 calcium-binding protein A11 (calgizzarin)", "S100 calcium binding protein A11 (calgizzarin)"			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.163A>G	1.37:g.152005293T>C	ENSP00000271638:p.Lys55Glu					S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	p.K55E	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	282	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		55			EF-hand 2.		Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.163A>G	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742281	0.69418	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.180386	0.38720	N	0.001594	T	0.21062	0.0507	M	0.91818	3.245	0.45914	D	0.998756	D	0.62365	0.991	P	0.58620	0.842	T	0.05419	-1.0886	10	0.62326	D	0.03	.	11.5407	0.50665	0.0:0.0:0.0:1.0	.	55	P31949	S10AB_HUMAN	E	55	ENSP00000271638:K55E	ENSP00000271638:K55E	K	-	1	0	S100A11	150271917	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.351000	0.44071	2.046000	0.60703	0.402000	0.26972	AAG		0.403	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		40	358	0	0	0	1	0	40	358					C	152005293	T	C	152005293	3	2	79	1	0	0	0	0	1	0	0	0	13823	1792	62	4	158	4	S100A11	1	152005293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	217402	152005293	97245328	1086	11403											
TCHHL1	126637	broad.mit.edu	37	chr1	152058970	152058970	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccatgggcctcaggAcctctcctctctttcctttc	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCTCAGGACCTCTCCTCT	0.468																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1186-1188)ggT>ggA		trichohyalin-like 1							148	143	145					1																	152058970		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058970A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1188T>A	1.37:g.152058970A>T							p.G396G	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1252	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		396					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1188T>A	CCDS30857.1																																																																																				0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		183	862	0	0	0	1	0	183	862					T	152058970	A	T	152058970	2	4	79	1	0	0	0	0	0	0	0	1	15753	262	10	5		5	TCHHL1	1	152058970	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53677	152058970	97191651	1087	11404											
TCHHL1	126637	broad.mit.edu	37	chr1	152060019	152060019	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcatgaaggacacaggGctgcatgaaaacacagtgag	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.e3-1		trichohyalin-like 1							37	36	36					1																	152060019		2202	4289	6491	SO:0001630	splice_region_variant	126637						calcium ion binding	g.chr1:152060019G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.139-1C>A	1.37:g.152060019G>T							p.P47_splice	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	203	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		47					B2RPK8|Q5VTJ9	Splice_Site	SNP	ENST00000368806.1	37	c.138_splice	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249639	0.39797	.	.	ENSG00000182898	ENST00000368806	T	0.13196	2.61	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.38897	N	0.001526	T	0.25306	0.0615	M	0.68317	2.08	0.36272	D	0.855259	D	0.89917	1.0	D	0.97110	1.0	T	0.01133	-1.1441	10	0.52906	T	0.07	-12.1731	13.3662	0.60684	0.0:0.0:1.0:0.0	.	47	Q5QJ38	TCHL1_HUMAN	T	47	ENSP00000357796:P47T	ENSP00000357796:P47T	P	-	1	0	TCHHL1	150326643	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	2.939000	0.48995	2.521000	0.84997	0.453000	0.30009	CCC		0.373	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	Missense_Mutation	38	203	1	0	9.8876e-21	1	1.10988e-20	38	203					T	152060019	G	T	152060019	5	4	79	1	0	0	0	0	0	0	1	0	15753	1217	42	3	2579	3	TCHHL1	1	152060019	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1049	152060019	97190602	1088	11405											
TCHH	7062	broad.mit.edu	37	chr1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtctcgctcctgccGcagcctctgctcttgttcct	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1838	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			CGCTCCTGCCGCAGCCTCTGC	0.587																																						ENST00000368804.1																			0				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						c.(5512-5514)Cgg>Tgg		trichohyalin							60	64	62					1																	152080181		2077	4207	6284	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080181G>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.5512C>T	1.37:g.152080181G>A	ENSP00000357794:p.Arg1838Trp						p.R1838W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1838			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5512C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526451	0.27299	.	.	ENSG00000159450	ENST00000368804	T	0.10960	2.82	4.6	1.42	0.22433	.	.	.	.	.	T	0.05364	0.0142	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	B	0.41466	0.358	T	0.20306	-1.0279	9	0.51188	T	0.08	-14.4328	13.2874	0.60251	0.0:0.0:0.4975:0.5025	.	1838	Q07283	TRHY_HUMAN	W	1838	ENSP00000357794:R1838W	ENSP00000357794:R1838W	R	-	1	2	TCHH	150346805	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.485000	0.22324	0.030000	0.15379	-2.281000	0.00270	CGG		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		93	428	0	0	0	1	0	93	428					A	152080181	G	A	152080181	3	1	79	1	0	0	0	0	1	0	0	0	15752	1086	38	1	323	1	TCHH	1	152080181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20162	152080181	97170440	1089	11406											
TCHH	7062	broad.mit.edu	37	chr1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttcttccctttccGgacggagctgctcttcctct	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1757	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			TTCCCTTTCCGGACGGAGCTG	0.597																																						ENST00000368804.1																			0				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						c.(5269-5271)cCg>cTg		trichohyalin							52	52	52					1																	152080423		1900	4114	6014	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080423G>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.5270C>T	1.37:g.152080423G>A	ENSP00000357794:p.Pro1757Leu						p.P1757L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5269	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1757			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5270C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626138	0.46840	.	.	ENSG00000159450	ENST00000368804	T	0.04360	3.64	3.76	-0.218	0.13142	.	.	.	.	.	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	0.33141	T	0.24	.	1.2456	0.01972	0.2985:0.0925:0.1541:0.4549	.	1757	Q07283	TRHY_HUMAN	L	1757	ENSP00000357794:P1757L	ENSP00000357794:P1757L	P	-	2	0	TCHH	150347047	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.629000	0.05575	-0.824000	0.03097	CCG		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		22	608	0	0	0	1	0	22	608					A	152080423	G	A	152080423	3	1	79	1	0	0	0	0	1	0	0	0	15752	1116	39	1	565	1	TCHH	1	152080423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	152080423	97170198	1090	11407											
TCHH	7062	broad.mit.edu	37	chr1	152080722	152080722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgacgcagctgttgttcGcgctcctggcggcgcagctg	15	13	0	1	rs190389251	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			GCTGTTGTTCGCGCTCCTGGC	0.602													G|||	8	0.00159744	0.0	0.0	5008	,	,		20161	0.006		0.0	False		,,,				2504	0.002					ENST00000368804.1																			0				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						c.(4969-4971)cgC>cgT		trichohyalin							67	68	68					1																	152080722		1900	4123	6023	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080722G>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.4971C>T	1.37:g.152080722G>A							p.R1657R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4970	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1657			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.4971C>T	CCDS41396.1																																																																																				0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		13	817	0	0	0	1	0	13	817					A	152080722	G	A	152080722	2	1	79	1	0	0	0	0	0	0	0	1	15752	1074	38	1		1	TCHH	1	152080722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	152080722	97169899	1091	11408											
TCHH	7062	broad.mit.edu	37	chr1	152082432	152082432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgctcttcctcctgCtgcagctcctcttccttccg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			cttcctcctgctgcagctcct	0.617																																						ENST00000368804.1																			0				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						c.(3259-3261)caG>caA		trichohyalin							96	99	98					1																	152082432		1983	4154	6137	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082432C>T	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.3261G>A	1.37:g.152082432C>T							p.Q1087Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3260	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1087			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3261G>A	CCDS41396.1																																																																																				0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		179	1134	0	0	0	1	0	179	1134					T	152082432	C	T	152082432	2	4	79	1	0	0	0	0	0	0	0	1	15752	796	28	2		2	TCHH	1	152082432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1710	152082432	97168189	1092	11409											
TCHH	7062	broad.mit.edu	37	chr1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcagctgctgctcgcGcctctcctcctcctgctcgc	9	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			tgctgctcgcgcctctcctcc	0.721																																						ENST00000368804.1																			0				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						c.(1117-1119)Cgc>Tgc		trichohyalin							6	9	8					1																	152084576		1424	3236	4660	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084576G>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.1117C>T	1.37:g.152084576G>A	ENSP00000357794:p.Arg373Cys						p.R373C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1116	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		373			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1117C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.557	0.876854	0.17395	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.47	1.51	0.23008	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.35155	0.487	B	0.18561	0.022	T	0.47971	-0.9075	9	0.44086	T	0.13	.	6.206	0.20604	0.114:0.1904:0.6956:0.0	.	373	Q07283	TRHY_HUMAN	C	373	ENSP00000357794:R373C	ENSP00000357794:R373C	R	-	1	0	TCHH	150351200	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.132000	0.15891	0.193000	0.20303	-0.285000	0.09966	CGC		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		45	276	0	0	0	1	0	45	276					A	152084576	G	A	152084576	3	1	79	1	0	0	0	0	1	0	0	0	15752	1087	38	1	4718	1	TCHH	1	152084576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	152084576	97166045	1093	11410											
TCHH	7062	broad.mit.edu	37	chr1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtcttcttcttgcctgCgatcttgtaacaggctctcc	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	113					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			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)			TTCTTGCCTGCGATCTTGTAA	0.567																																						ENST00000368804.1																			0				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						c.(337-339)cGc>cAc		trichohyalin							194	184	187					1																	152085355		1947	4154	6101	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085355C>T	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.338G>A	1.37:g.152085355C>T	ENSP00000357794:p.Arg113His						p.R113H	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	337	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		113					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.338G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.389	0.630450	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.71	1.59	0.23543	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.24988	N	0.991556	P	0.48589	0.912	B	0.36608	0.229	T	0.42832	-0.9428	9	0.48119	T	0.1	-1.9391	1.3116	0.02099	0.1722:0.4464:0.1869:0.1946	.	113	Q07283	TRHY_HUMAN	H	113	ENSP00000357794:R113H	ENSP00000357794:R113H	R	-	2	0	TCHH	150351979	0.001000	0.12720	0.931000	0.37212	0.100000	0.18952	-0.024000	0.12435	0.694000	0.31654	0.552000	0.68991	CGC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		277	880	0	0	0	1	0	277	880					T	152085355	C	T	152085355	3	4	79	1	0	0	0	0	1	0	0	0	15752	768	27	1	5497	1	TCHH	1	152085355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	779	152085355	97165266	1094	11411											
RPTN	126638	broad.mit.edu	37	chr1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggtttgcctgtctcGtctctgacggttctgcttgt	11	10	4	1	rs192865821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473													G|||	4	0.000798722	0.0008	0.0	5008	,	,		24071	0.003		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2311-2313)Cga>Tga		repetin							848	672	726					1																	152127264		1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127264G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2311C>T	1.37:g.152127264G>A	ENSP00000317895:p.Arg771*						p.R771*	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2375	-			771			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.2311C>T	CCDS41397.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.007274	0.97195	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.09	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.24012	N	0.996175	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0492	6.6798	0.23113	0.0867:0.0:0.3764:0.5369	.	.	.	.	X	771;426	.	ENSP00000317895:R771X	R	-	1	2	RPTN	150393888	0.001000	0.12720	0.205000	0.23548	0.272000	0.26649	0.228000	0.17814	0.371000	0.24564	0.643000	0.83706	CGA		0.473	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		436	2265	0	0	0	1	0	436	2265					A	152127264	G	A	152127264	4	1	79	1	0	0	0	0	0	1	0	0	13714	1153	40	1	47	1	RPTN	1	152127264	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41909	152127264	97123357	1095	11412											
RPTN	126638	broad.mit.edu	37	chr1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcacaccgatttaaggCaaagatatgtccctgccatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	227	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A227T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.A227T(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(679-681)Gcc>Acc		repetin							235	199	210					1																	152128896		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128896C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.679G>A	1.37:g.152128896C>T	ENSP00000317895:p.Ala227Thr						p.A227T	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	743	-			227			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.679G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938550	0.52972	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	1.63	0.23807	.	.	.	.	.	T	0.03220	0.0094	L	0.58101	1.795	0.09310	N	1	P	0.40144	0.704	B	0.35859	0.212	T	0.35968	-0.9767	9	0.10111	T	0.7	-0.5711	2.3274	0.04226	0.1974:0.5017:0.191:0.11	.	227	Q6XPR3	RPTN_HUMAN	T	227	ENSP00000317895:A227T	ENSP00000317895:A227T	A	-	1	0	RPTN	150395520	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	1.303000	0.33470	2.146000	0.66826	0.442000	0.29010	GCC		0.413	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		289	892	0	0	0	1	0	289	892					T	152128896	C	T	152128896	3	4	79	1	0	0	0	0	1	0	0	0	13714	710	25	2	1679	2	RPTN	1	152128896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1632	152128896	97121725	1096	11413											
HRNR	388697	broad.mit.edu	37	chr1	152187575	152187575	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggggaatggccagatccaGacccttgtcggccgtggccc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152187575G>T	ENST00000368801.2	-	3	6605	c.6530C>A	c.(6529-6531)tCt>tAt	p.S2177Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2177					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCCAGACCCTTGTCG	0.637																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6529-6531)tCt>tAt		hornerin																																				SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187575G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6530C>A	1.37:g.152187575G>T	ENSP00000357791:p.Ser2177Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2177Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6605	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2177					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6530C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.570	0.473440	0.12521	.	.	ENSG00000197915	ENST00000368801	T	0.05925	3.37	3.22	2.26	0.28386	.	.	.	.	.	T	0.05090	0.0136	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.32693	-0.9897	9	0.23891	T	0.37	.	4.5699	0.12205	0.1295:0.2328:0.6377:0.0	.	2177	Q86YZ3	HORN_HUMAN	Y	2177	ENSP00000357791:S2177Y	ENSP00000357791:S2177Y	S	-	2	0	HRNR	150454199	0.034000	0.19679	0.008000	0.14137	0.006000	0.05464	0.515000	0.22801	0.650000	0.30769	0.650000	0.86243	TCT		0.637	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		54	997	1	0	2.66277e-13	1	2.87267e-13	54	997					T	152187575	G	T	152187575	3	4	79	1	0	0	0	0	1	0	0	0	7389	942	33	3	2026	3	HRNR	1	152187575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58679	152187575	97063046	1097	11414											
HRNR	388697	broad.mit.edu	37	chr1	152188160	152188160	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaagagtgaccggagccaGactcatatgggccacggctg	14	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152188160G>T	ENST00000368801.2	-	3	6020	c.5945C>A	c.(5944-5946)tCt>tAt	p.S1982Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1982					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGAGCCAGACTCATATGG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5944-5946)tCt>tAt		hornerin							141	230	202					1																	152188160		1651	3515	5166	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188160G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5945C>A	1.37:g.152188160G>T	ENSP00000357791:p.Ser1982Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1982Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6020	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1982					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5945C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234831	0.09969	.	.	ENSG00000197915	ENST00000368801	T	0.03413	3.94	2.67	0.662	0.17880	.	.	.	.	.	T	0.01222	0.0040	L	0.50333	1.59	0.09310	N	1	B	0.28636	0.218	B	0.25759	0.063	T	0.45948	-0.9226	9	0.66056	D	0.02	.	3.2283	0.06740	0.1491:0.0:0.5937:0.2573	.	1982	Q86YZ3	HORN_HUMAN	Y	1982	ENSP00000357791:S1982Y	ENSP00000357791:S1982Y	S	-	2	0	HRNR	150454784	0.036000	0.19791	0.001000	0.08648	0.052000	0.14988	1.946000	0.40283	0.175000	0.19841	0.505000	0.49811	TCT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		57	2801	1	0	9.7654e-05	1	9.93505e-05	57	2801					T	152188160	G	T	152188160	3	4	79	1	0	0	0	0	1	0	0	0	7389	942	33	3	2611	3	HRNR	1	152188160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585	152188160	97062461	1098	11415											
HRNR	388697	broad.mit.edu	37	chr1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcgactaggagactggccaGatccagagccctgttggcca	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	656					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCAGATCCAGAGCC	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1966-1968)tCt>tAt		hornerin							163	173	169					1																	152192138		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192138G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1967C>A	1.37:g.152192138G>T	ENSP00000357791:p.Ser656Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S656Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		656					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1967C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.898	0.535292	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.28964	-1.0027	9	0.56958	D	0.05	.	9.3797	0.38306	0.0:0.219:0.781:0.0	.	656	Q86YZ3	HORN_HUMAN	Y	656	ENSP00000357791:S656Y	ENSP00000357791:S656Y	S	-	2	0	HRNR	150458762	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.274000	0.18680	0.864000	0.35578	0.644000	0.83932	TCT		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		195	1283	1	0	6.4993e-71	1	8.25884e-71	195	1283					T	152192138	G	T	152192138	3	4	79	1	0	0	0	0	1	0	0	0	7389	942	33	3	6589	3	HRNR	1	152192138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3978	152192138	97058483	1099	11416											
HRNR	388697	broad.mit.edu	37	chr1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgctgaccgtggctggaaGactgacctgaggtagctcca	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	633					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCTGGAAGACTGACCTGA	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1897-1899)tCt>tTt		hornerin							250	243	245					1																	152192207		2203	4297	6500	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192207G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1898C>T	1.37:g.152192207G>A	ENSP00000357791:p.Ser633Phe					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S633F	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1973	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		633					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1898C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.680	0.309977	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.7	2.77	0.32553	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.56612	0.802	T	0.50516	-0.8819	9	0.25751	T	0.34	.	10.104	0.42521	0.0:0.0:0.7977:0.2023	.	633	Q86YZ3	HORN_HUMAN	F	633	ENSP00000357791:S633F	ENSP00000357791:S633F	S	-	2	0	HRNR	150458831	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	0.924000	0.28777	0.753000	0.32945	-0.194000	0.12790	TCT		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		268	1522	0	0	0	1	0	268	1522					A	152192207	G	A	152192207	3	1	79	1	0	0	0	0	1	0	0	0	7389	942	33	2	6658	2	HRNR	1	152192207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	152192207	97058414	1100	11417											
HRNR	388697	broad.mit.edu	37	chr1	152192830	152192830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacccacgctggccgtgGcctggagactggccagatcc	13	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	425					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGCCGTGGCCTGGAGACT	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1273-1275)ggC>ggT		hornerin							75	77	76					1																	152192830		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192830G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1275C>T	1.37:g.152192830G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G425G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		425					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1275C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		164	445	0	0	0	1	0	164	445					A	152192830	G	A	152192830	2	1	79	1	0	0	0	0	0	0	0	1	7389	1190	42	2		2	HRNR	1	152192830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	152192830	97057791	1101	11418											
FLG	2312	broad.mit.edu	37	chr1	152276040	152276040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctatctaccgattgctcGtggtaggatccctgtcttcc	9	13	2	0	rs544796549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3774	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.H3774H(2)		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)			CCGATTGCTCGTGGTAGGATC	0.592									Ichthyosis																													ENST00000368799.1																			2	Substitution - coding silent(2)	p.H3774H(2)	lung(1)|prostate(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						c.(11320-11322)caC>caT		filaggrin							379	367	371					1																	152276040		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276040G>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.11322C>T	1.37:g.152276040G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H3774H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11357	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3774			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11322C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		237	2588	0	0	0	1	0	237	2588					A	152276040	G	A	152276040	2	1	79	1	0	0	0	0	0	0	0	1	5947	1136	40	1		1	FLG	1	152276040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83210	152276040	96974581	1102	11419											
FLG	2312	broad.mit.edu	37	chr1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttccccctgaccggtcaCgtgcggactcttggtggctc	11	16	2	1	rs550252644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3373	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)			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)			TGACCGGTCACGTGCGGACTC	0.592									Ichthyosis																													ENST00000368799.1																			0				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						c.(10117-10119)cGt>cAt		filaggrin							292	311	305					1																	152277244		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.chr1:152277244C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10118G>A	1.37:g.152277244C>T	ENSP00000357789:p.Arg3373His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3373H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3373			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10118G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228161	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.71	-5.36	0.02689	.	.	.	.	.	T	0.00524	0.0017	L	0.60957	1.885	0.09310	N	1	P	0.46706	0.883	P	0.46419	0.516	T	0.18053	-1.0349	9	0.21540	T	0.41	-0.9891	9.4993	0.39008	0.0:0.2497:0.0:0.7503	.	3373	P20930	FILA_HUMAN	H	3373;311	ENSP00000357789:R3373H	ENSP00000357786:R311H	R	-	2	0	FLG	150543868	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.270000	0.02433	-0.396000	0.06452	CGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		648	1988	0	0	0	1	0	648	1988					T	152277244	C	T	152277244	3	4	79	1	0	0	0	0	1	0	0	0	5947	536	19	1	2071	1	FLG	1	152277244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1204	152277244	96973377	1103	11420											
FLG	2312	broad.mit.edu	37	chr1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtccacgaatggtgTcctgaccgtcttgggatgct	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	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)			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)			ACGAATGGTGTCCTGACCGTC	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(8350-8352)gAc>gGc		filaggrin							416	546	502					1																	152279011		2198	4300	6498	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.chr1:152279011T>C	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.8351A>G	1.37:g.152279011T>C	ENSP00000357789:p.Asp2784Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D2784G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8386	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2784			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8351A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	9.496	1.101951	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01629	4.72	2.68	-5.36	0.02689	.	.	.	.	.	T	0.00695	0.0023	M	0.77820	2.39	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.42378	-0.9455	9	0.44086	T	0.13	8.0E-4	1.9501	0.03364	0.1086:0.2667:0.189:0.4357	.	2784	P20930	FILA_HUMAN	G	2784;46	ENSP00000357789:D2784G	ENSP00000357786:D46G	D	-	2	0	FLG	150545635	0.243000	0.23878	0.000000	0.03702	0.067000	0.16453	-0.243000	0.08915	-1.533000	0.01745	0.254000	0.18369	GAC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		547	4391	0	0	0	1	0	547	4391					C	152279011	T	C	152279011	3	2	79	1	0	0	0	0	1	0	0	0	5947	1667	58	4	3838	4	FLG	1	152279011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1767	152279011	96971610	1104	11421											
FLG	2312	broad.mit.edu	37	chr1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgcttgaccctgggTgtccacgaatggtgtcctga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		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)			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)			TGACCCTGGGTGTCCACGAAT	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(5446-5448)cAc>cGc		filaggrin							360	364	362					1																	152281915		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.chr1:152281915T>C	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.5447A>G	1.37:g.152281915T>C	ENSP00000357789:p.His1816Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1816R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1816		H -> Q (in dbSNP:rs12073613).	Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5447A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340718	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.0	0.302	0.15786	.	.	.	.	.	T	0.00608	0.0020	M	0.65320	2	0.09310	N	1	P	0.37864	0.61	B	0.37833	0.259	T	0.39881	-0.9592	9	0.05525	T	0.97	.	6.1779	0.20455	0.0:0.3321:0.0:0.6679	.	1816	P20930	FILA_HUMAN	R	1816;51	ENSP00000357789:H1816R	ENSP00000271820:H51R	H	-	2	0	FLG	150548539	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.039000	0.13602	-0.490000	0.04691	CAC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		698	2166	0	0	0	1	0	698	2166					C	152281915	T	C	152281915	3	2	79	1	0	0	0	0	1	0	0	0	5947	1696	59	4	6742	4	FLG	1	152281915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2904	152281915	96968706	1105	11422											
FLG	2312	broad.mit.edu	37	chr1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgaatggtgtcctgacccTcttgggacgctgagtgcctg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	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)			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)			GTCCTGACCCTCTTGGGACGC	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(5422-5424)gAg>gGg		filaggrin							330	340	337					1																	152281939		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.chr1:152281939T>C	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.5423A>G	1.37:g.152281939T>C	ENSP00000357789:p.Glu1808Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1808G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5458	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1808			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5423A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467921	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	2.15	-0.104	0.13605	.	.	.	.	.	T	0.02380	0.0073	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	D	0.67900	0.954	T	0.41215	-0.9521	9	0.38643	T	0.18	-1.1804	4.4071	0.11414	0.0:0.5757:0.0:0.4243	.	1808	P20930	FILA_HUMAN	G	1808;43	ENSP00000357789:E1808G	ENSP00000271820:E43G	E	-	2	0	FLG	150548563	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.205000	0.09411	-0.012000	0.14223	0.378000	0.23410	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		462	2290	0	0	0	1	0	462	2290					C	152281939	T	C	152281939	3	2	79	1	0	0	0	0	1	0	0	0	5947	1551	54	4	6766	4	FLG	1	152281939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	152281939	96968682	1106	11423											
FLG	2312	broad.mit.edu	37	chr1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctggagctgtctcGtgcctgctcgtggtgggatc	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	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)			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)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(3448-3450)Cga>Tga		filaggrin							195	235	221					1																	152283914		2203	4296	6499	SO:0001587	stop_gained	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.chr1:152283914G>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.3448C>T	1.37:g.152283914G>A	ENSP00000357789:p.Arg1150*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1150*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1150			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3448C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.443577	0.97572	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.05	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.8586	0.03184	0.1111:0.3099:0.282:0.2969	.	.	.	.	X	1150	.	ENSP00000357789:R1150X	R	-	1	2	FLG	150550538	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-8.221000	0.00023	-1.998000	0.00968	0.186000	0.17326	CGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		100	2250	0	0	0	1	0	100	2250					A	152283914	G	A	152283914	4	1	79	1	0	0	0	0	0	1	0	0	5947	1153	40	1	8741	1	FLG	1	152283914	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	152283914	96966707	1107	11424											
FLG	2312	broad.mit.edu	37	chr1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgaccccgggtgtccacGaatggtgtcctgaccctctt	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	517	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)			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)			GGGTGTCCACGAATGGTGTCC	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(1549-1551)Cgt>Tgt		filaggrin							349	346	347					1																	152285813		2203	4298	6501	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.chr1:152285813G>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.1549C>T	1.37:g.152285813G>A	ENSP00000357789:p.Arg517Cys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R517C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		517			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1549C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.810	1.182872	0.21870	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.91	-0.649	0.11461	.	.	.	.	.	T	0.02494	0.0076	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39981	-0.9587	9	0.56958	D	0.05	.	1.2341	0.01949	0.1416:0.2215:0.4109:0.2261	.	517	P20930	FILA_HUMAN	C	517;49	ENSP00000357789:R517C	ENSP00000357789:R517C	R	-	1	0	FLG	150552437	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.100000	0.17581	0.603000	0.83216	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		686	2063	0	0	0	1	0	686	2063					A	152285813	G	A	152285813	3	1	79	1	0	0	0	0	1	0	0	0	5947	1058	37	1	10640	1	FLG	1	152285813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1899	152285813	96964808	1108	11425											
FLG2	388698	broad.mit.edu	37	chr1	152323365	152323365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggtatctcctgtctgTccatgagtagtttccagtct	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2299					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)			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)			CTCCTGTCTGTCCATGAGTAG	0.478																																						ENST00000388718.5																			0				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						c.(6895-6897)ggA>ggG		filaggrin family member 2							305	275	285					1																	152323365		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323365T>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.6897A>G	1.37:g.152323365T>C						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G2299G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6969	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2299					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6897A>G	CCDS30861.1																																																																																				0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		269	1252	0	0	0	1	0	269	1252					C	152323365	T	C	152323365	2	2	79	1	0	0	0	0	0	0	0	1	5948	1654	58	4		4	FLG2	1	152323365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37552	152323365	96927256	1109	11426											
FLG2	388698	broad.mit.edu	37	chr1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtccataaccatagTgggcatgtctagtggtatct	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2234					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)			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)			ATAACCATAGTGGGCATGTCT	0.542																																						ENST00000388718.5																			0				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						c.(6700-6702)cAc>cGc		filaggrin family member 2							411	375	387					1																	152323561		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323561T>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.6701A>G	1.37:g.152323561T>C	ENSP00000373370:p.His2234Arg					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H2234R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6773	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2234					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6701A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.866	0.343922	0.11126	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.52	-0.349	0.12609	.	.	.	.	.	T	0.02533	0.0077	L	0.46157	1.445	0.09310	N	1	D	0.62365	0.991	D	0.65773	0.938	T	0.37267	-0.9713	9	0.19147	T	0.46	3.5718	2.6873	0.05111	0.1937:0.226:0.0:0.5803	.	2234	Q5D862	FILA2_HUMAN	R	2234	ENSP00000373370:H2234R	ENSP00000373370:H2234R	H	-	2	0	FLG2	150590185	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.973000	0.01500	-0.055000	0.13244	0.450000	0.29827	CAC		0.542	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		389	1938	0	0	0	1	0	389	1938					C	152323561	T	C	152323561	3	2	79	1	0	0	0	0	1	0	0	0	5948	1696	59	4	478	4	FLG2	1	152323561	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	152323561	96927060	1110	11427											
FLG2	388698	broad.mit.edu	37	chr1	152324909	152324909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtctgtgtggactgtccatGaccagagtgggcatgtctgg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152324909G>A	ENST00000388718.5	-	3	5425	c.5353C>T	c.(5353-5355)Cat>Tat	p.H1785Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1785					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)			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)			GACTGTCCATGACCAGAGTGG	0.512																																						ENST00000388718.5																			0				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						c.(5353-5355)Cat>Tat		filaggrin family member 2							311	263	280					1																	152324909		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324909G>A	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.5353C>T	1.37:g.152324909G>A	ENSP00000373370:p.His1785Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1785Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5425	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1785					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5353C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879673	0.33162	.	.	ENSG00000143520	ENST00000388718	T	0.37915	1.17	3.85	2.9	0.33743	.	.	.	.	.	T	0.15912	0.0383	M	0.65975	2.015	0.09310	N	1	D	0.56968	0.978	P	0.45998	0.5	T	0.15896	-1.0421	9	0.02654	T	1	.	9.3816	0.38318	0.0:0.219:0.781:0.0	.	1785	Q5D862	FILA2_HUMAN	Y	1785	ENSP00000373370:H1785Y	ENSP00000373370:H1785Y	H	-	1	0	FLG2	150591533	0.042000	0.20092	0.003000	0.11579	0.417000	0.31264	1.166000	0.31834	0.953000	0.37825	0.297000	0.19635	CAT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		20	1471	0	0	0	1	0	20	1471					A	152324909	G	A	152324909	3	1	79	1	0	0	0	0	1	0	0	0	5948	1290	45	2	1826	2	FLG2	1	152324909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1348	152324909	96925712	1111	11428											
FLG2	388698	broad.mit.edu	37	chr1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggattctgactgtccatGttgagatccagcttgaccat	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681					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)			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)			GACTGTCCATGTTGAGATCCA	0.478																																						ENST00000388718.5																			0				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						c.(5041-5043)Cat>Tat		filaggrin family member 2							444	385	405					1																	152325221		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325221G>A	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.5041C>T	1.37:g.152325221G>A	ENSP00000373370:p.His1681Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1681Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5113	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1681					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5041C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195910	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.69	2.73	0.32206	.	.	.	.	.	T	0.02418	0.0074	M	0.72118	2.19	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.14924	-1.0455	9	0.02654	T	1	2.4938	8.3613	0.32361	0.0:0.0:0.7652:0.2348	.	1681	Q5D862	FILA2_HUMAN	Y	1681	ENSP00000373370:H1681Y	ENSP00000373370:H1681Y	H	-	1	0	FLG2	150591845	.	.	0.002000	0.10522	0.066000	0.16364	.	.	0.858000	0.35431	0.456000	0.33151	CAT		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		304	1535	0	0	0	1	0	304	1535					A	152325221	G	A	152325221	3	1	79	1	0	0	0	0	1	0	0	0	5948	1377	48	2	2138	2	FLG2	1	152325221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	152325221	96925400	1112	11429											
FLG2	388698	broad.mit.edu	37	chr1	152327349	152327349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttgtccaaagccagaGgactgacctgagcctgatcc	10	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	971	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)			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)			CAAAGCCAGAGGACTGACCTG	0.488																																						ENST00000388718.5																			0				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						c.(2911-2913)tcC>tcT		filaggrin family member 2							265	267	266					1																	152327349		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327349G>A	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.2913C>T	1.37:g.152327349G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S971S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2985	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		971			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2913C>T	CCDS30861.1																																																																																				0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		346	1618	0	0	0	1	0	346	1618					A	152327349	G	A	152327349	2	1	79	1	0	0	0	0	0	0	0	1	5948	987	35	2		2	FLG2	1	152327349	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2128	152327349	96923272	1113	11430											
FLG2	388698	broad.mit.edu	37	chr1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcccaactgtttgatccaGatccagattcatactcctcc	4	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	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)			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)			GTTTGATCCAGATCCAGATTC	0.433																																						ENST00000388718.5																			0				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						c.(679-681)tCt>tAt		filaggrin family member 2							212	217	215					1																	152329582		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329582G>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.680C>A	1.37:g.152329582G>T	ENSP00000373370:p.Ser227Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S227Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	752	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		227			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.680C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021952	0.02061	.	.	ENSG00000143520	ENST00000388718	T	0.00695	5.83	5.19	1.15	0.20763	.	.	.	.	.	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.40496	-0.9560	9	0.44086	T	0.13	-0.1609	3.5397	0.07807	0.0825:0.146:0.4701:0.3015	.	227	Q5D862	FILA2_HUMAN	Y	227	ENSP00000373370:S227Y	ENSP00000373370:S227Y	S	-	2	0	FLG2	150596206	0.048000	0.20356	0.008000	0.14137	0.129000	0.20672	0.751000	0.26348	0.054000	0.16065	-0.156000	0.13503	TCT		0.433	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		114	1184	1	0	1.20873e-29	1	1.41311e-29	114	1184					T	152329582	G	T	152329582	3	4	79	1	0	0	0	0	1	0	0	0	5948	942	33	3	6499	3	FLG2	1	152329582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2233	152329582	96921039	1114	11431											
CRNN	49860	broad.mit.edu	37	chr1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtctgtccctgttctctaGcccctccgtggcttacagtt	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	371	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1111-1113)gCt>gAt		cornulin							180	152	162					1																	152382446		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382446G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1112C>A	1.37:g.152382446G>T	ENSP00000271835:p.Ala371Asp					RP1-91G5.3_ENST00000411804.1_RNA	p.A371D	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1174	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		371			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1112C>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851255	0.17034	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.41	0.178	0.15058	.	0.979395	0.08353	N	0.958954	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.49123	-0.8972	10	0.14656	T	0.56	.	3.5545	0.07860	0.1941:0.0:0.4613:0.3446	.	371	Q9UBG3	CRNN_HUMAN	D	371	ENSP00000271835:A371D	ENSP00000271835:A371D	A	-	2	0	CRNN	150649070	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.067000	0.14510	-0.049000	0.13379	-0.237000	0.12165	GCT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		199	881	1	0	3.07355e-68	1	3.8966e-68	199	881					T	152382446	G	T	152382446	3	4	79	1	0	0	0	0	1	0	0	0	3901	971	34	3	379	3	CRNN	1	152382446	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52864	152382446	96868175	1115	11432											
CRNN	49860	broad.mit.edu	37	chr1	152383288	152383288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctccctcagcactctcGctcagtgtcttgaaacaggc	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	90					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(268-270)agC>agT		cornulin							96	107	103					1																	152383288		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383288G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.270C>T	1.37:g.152383288G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.S90S	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	332	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.270C>T	CCDS1010.1																																																																																				0.562	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		169	1182	0	0	0	1	0	169	1182					A	152383288	G	A	152383288	2	1	79	1	0	0	0	0	0	0	0	1	3901	1078	38	1		1	CRNN	1	152383288	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	842	152383288	96867333	1116	11433											
LCE5A	254910	broad.mit.edu	37	chr1	152484304	152484304	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggccagcagtctgggggCtccagctgctgccacagctc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152484304C>A	ENST00000334269.2	+	2	470	c.294C>A	c.(292-294)ggC>ggA	p.G98G	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	98	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGGGGCTCCAGCTGCT	0.682																																						ENST00000334269.2																			0				lung(3)|ovary(1)|prostate(3)	7						c.(292-294)ggC>ggA		late cornified envelope 5A							15	19	17					1																	152484304		2155	4243	6398	SO:0001819	synonymous_variant	254910				keratinization			g.chr1:152484304C>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"Late cornified envelopes"	16614	protein-coding gene	gene with protein product		612619	"small proline rich-like (epidermal differentiation complex) 5A"	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.294C>A	1.37:g.152484304C>A							p.G98G	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	470	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		98			Cys-rich.			Silent	SNP	ENST00000334269.2	37	c.294C>A	CCDS1011.1																																																																																				0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		12	366	1	0	1.08611e-07	1	1.12939e-07	12	366					A	152484304	C	A	152484304	2	1	79	1	0	0	0	0	0	0	0	1	8706	784	28	3		3	LCE5A	1	152484304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101016	152484304	96766317	1117	11434											
LCE3A	353142	broad.mit.edu	37	chr1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgactcaggcagcagCtgcgctcggagctgggccca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	46					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657																																						ENST00000335674.1																			0				endometrium(1)|lung(5)	6						c.(136-138)aGc>aAc		late cornified envelope 3A							48	51	50					1																	152595443		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595443C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"Late cornified envelopes"	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.137G>A	1.37:g.152595443C>T	ENSP00000335006:p.Ser46Asn						p.S46N	NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	136	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46						Missense_Mutation	SNP	ENST00000335674.1	37	c.137G>A	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022189	0.07634	.	.	ENSG00000185962	ENST00000335674	T	0.04015	3.73	3.61	3.61	0.41365	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.24269	0.052	T	0.40831	-0.9542	8	0.62326	D	0.03	.	10.9218	0.47169	0.0:1.0:0.0:0.0	.	46	Q5TA76	LCE3A_HUMAN	N	46	ENSP00000335006:S46N	ENSP00000335006:S46N	S	-	2	0	LCE3A	150862067	0.724000	0.28038	0.059000	0.19551	0.012000	0.07955	1.084000	0.30828	2.002000	0.58637	0.650000	0.86243	AGC		0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		35	497	0	0	0	1	0	35	497					T	152595443	C	T	152595443	3	4	79	1	0	0	0	0	1	0	0	0	8700	797	28	2	135	2	LCE3A	1	152595443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111139	152595443	96655178	1118	11435											
KPRP	448834	broad.mit.edu	37	chr1	152732646	152732646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagcagttgtggcccccaGtttcagtcaagggctacctg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000606109.1	+	1	610	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000368773.1_Silent_p.Q194Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(580-582)caG>caA		keratinocyte proline-rich protein							150	147	148					1																	152732646		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732646G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.582G>A	1.37:g.152732646G>A						KPRP_ENST00000606109.1_Silent_p.Q194Q	p.Q194Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	640	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		194			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.582G>A	CCDS30862.1																																																																																				0.547	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		214	582	0	0	0	1	0	214	582					A	152732646	G	A	152732646	2	1	79	1	0	0	0	0	0	0	0	1	8466	1020	36	2		2	KPRP	1	152732646	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137203	152732646	96517975	1119	11436											
KPRP	448834	broad.mit.edu	37	chr1	152733397	152733397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactacgtccaacaccgCggccagttccccttcctcgc	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152733397C>T	ENST00000606109.1	+	1	1361	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KPRP_ENST00000368773.1_Missense_Mutation_p.R445W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACACCGCGGCCAGTTCC	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1333-1335)Cgg>Tgg		keratinocyte proline-rich protein							172	173	173					1																	152733397		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733397C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1333C>T	1.37:g.152733397C>T	ENSP00000475216:p.Arg445Trp					KPRP_ENST00000606109.1_Missense_Mutation_p.R445W	p.R445W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1391	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1333C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313134	0.10789	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	1.66	-3.18	0.05186	.	0.339830	0.21778	N	0.069258	T	0.02193	0.0068	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36138	-0.9760	10	0.48119	T	0.1	-4.7283	4.4444	0.11589	0.0:0.287:0.1788:0.5342	.	445	Q5T749	KPRP_HUMAN	W	445	ENSP00000357762:R445W	ENSP00000357762:R445W	R	+	1	2	KPRP	151000021	0.049000	0.20398	0.008000	0.14137	0.028000	0.11728	0.165000	0.16564	-1.060000	0.03189	-0.448000	0.05591	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		18	890	0	0	0	1	0	18	890					T	152733397	C	T	152733397	3	4	79	1	0	0	0	0	1	0	0	0	8466	759	27	1	1335	1	KPRP	1	152733397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	751	152733397	96517224	1120	11437											
LCE1F	353137	broad.mit.edu	37	chr1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagccaccacagacggCgtaggtcccaccgccacaga	11	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(247-249)Cgt>Agt		late cornified envelope 1F							22	26	24					1																	152749094		2203	4298	6501	SO:0001583	missense	353137				keratinization			g.chr1:152749094C>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>A	1.37:g.152749094C>A	ENSP00000334187:p.Arg83Ser						p.R83S	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.247C>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885064	0.17540	.	.	ENSG00000240386	ENST00000334371	T	0.04119	3.7	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.02533	0.0077	M	0.65498	2.005	0.22468	N	0.999073	P	0.38455	0.632	B	0.32805	0.153	T	0.24870	-1.0148	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	S	83	ENSP00000334187:R83S	ENSP00000334187:R83S	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		107	275	1	0	8.64784e-51	1	1.07212e-50	107	275					A	152749094	C	A	152749094	3	1	79	1	0	0	0	0	1	0	0	0	8695	768	27	3	249	3	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15697	152749094	96501527	1121	11438											
LCE1D	353134	broad.mit.edu	37	chr1	152770357	152770357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgccccgcccctaaatgTccccctaagtgccctccagt	7	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(85-87)tgT>tgC		late cornified envelope 1D							45	45	45					1																	152770357		2099	3880	5979	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770357T>C		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.87T>C	1.37:g.152770357T>C							p.C29C	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	130	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.87T>C	CCDS1025.1																																																																																				0.657	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		94	217	0	0	0	1	0	94	217					C	152770357	T	C	152770357	2	2	79	1	0	0	0	0	0	0	0	1	8693	1673	58	4		4	LCE1D	1	152770357	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21263	152770357	96480264	1122	11439											
LCE1D	353134	broad.mit.edu	37	chr1	152770417	152770417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccggaggctgctgtggCtccagctctgggggcggctg	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	49	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(145-147)ggC>ggA		late cornified envelope 1D							31	31	31					1																	152770417		2159	4152	6311	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770417C>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.147C>A	1.37:g.152770417C>A							p.G49G	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	190	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.147C>A	CCDS1025.1																																																																																				0.672	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		108	221	1	0	2.23157e-60	1	2.80682e-60	108	221					A	152770417	C	A	152770417	2	1	79	1	0	0	0	0	0	0	0	1	8693	784	28	3		3	LCE1D	1	152770417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	152770417	96480204	1123	11440											
LCE1C	353133	broad.mit.edu	37	chr1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggcagtgggacctacGgcgcctgtggtggctcaggc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization (GO:0031424)					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)			TGGGACCTACGGCGCCTGTGG	0.701																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(247-249)Cgt>Tgt		late cornified envelope 1C							28	36	33					1																	152777708		2201	4286	6487	SO:0001583	missense	353133				keratinization			g.chr1:152777708G>A		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.247C>T	1.37:g.152777708G>A	ENSP00000475270:p.Arg83Cys					LCE1C_ENST00000607093.1_Missense_Mutation_p.R83C	p.R83C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	297	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.247C>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	LCE1C	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		97	499	0	0	0	1	0	97	499					A	152777708	G	A	152777708	3	1	79	1	0	0	0	0	1	0	0	0	8692	1116	39	1	113	1	LCE1C	1	152777708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7291	152777708	96472913	1124	11441											
LCE1C	353133	broad.mit.edu	37	chr1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacactttggggtggGgcacttgggagggcacttgg	21	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000607093.1	-	1	72	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization (GO:0031424)					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)			tttggggTGgggcacttggga	0.637																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(73-75)Ccc>Tcc		late cornified envelope 1C							43	44	44					1																	152777882		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777882G>A		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.73C>T	1.37:g.152777882G>A	ENSP00000475270:p.Pro25Ser					LCE1C_ENST00000607093.1_Missense_Mutation_p.P25S	p.P25S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	123	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		25			Pro-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.73C>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968345	0.02232	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	3.53	-0.578	0.11724	.	.	.	.	.	T	0.01489	0.0048	M	0.68952	2.095	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	9	0.87932	D	0	.	3.3399	0.07115	0.3664:0.2056:0.428:0.0	.	25	Q5T751	LCE1C_HUMAN	S	25	ENSP00000357757:P25S	ENSP00000357757:P25S	P	-	1	0	LCE1C	151044506	0.872000	0.30054	0.035000	0.18076	0.093000	0.18481	2.296000	0.43584	0.008000	0.14787	-0.150000	0.13652	CCC		0.637	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		108	303	0	0	0	1	0	108	303					A	152777882	G	A	152777882	3	1	79	1	0	0	0	0	1	0	0	0	8692	1232	43	2	287	2	LCE1C	1	152777882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174	152777882	96472739	1125	11442											
IVL	3713	broad.mit.edu	37	chr1	152883822	152883822	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagagcacccagagcagcagGacggacaactaaaacatctg	10	11	1	2	rs201247184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	ENST00000368764.3	+	2	1613	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_ENST00000392667.2_Missense_Mutation_p.D371H			P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agagcagcaggacggacaact	0.607																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1549-1551)Gac>Cac		involucrin							92	85	88					1																	152883822		2203	4299	6502	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883822G>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1549G>C	1.37:g.152883822G>C	ENSP00000357753:p.Asp517His					IVL_ENST00000392667.2_Missense_Mutation_p.D371H	p.D517H			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1613	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		517			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1549G>C	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732617	0.30684	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.03;2.86	3.39	3.39	0.38822	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.57009	0.811	T	0.36383	-0.9750	9	0.59425	D	0.04	.	10.9889	0.47539	0.0:0.0:1.0:0.0	.	517	P07476	INVO_HUMAN	H	517;371	ENSP00000357753:D517H;ENSP00000376435:D371H	ENSP00000357753:D517H	D	+	1	0	IVL	151150446	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	-0.443000	0.06862	1.853000	0.53794	0.563000	0.77884	GAC		0.607	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		26	70	0	0	0	1	0	26	70					C	152883822	G	C	152883822	3	2	79	1	0	0	0	0	1	0	0	0	7959	1174	41	5	1551	5	IVL	1	152883822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105940	152883822	96366799	1126	11443											
SPRR2A	6700	broad.mit.edu	37	chr1	153029119	153029119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcagggctcagggcaCttcgggggtggacatggctc	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	ENST00000392653.2	-	2	178	c.93G>T	c.(91-93)aaG>aaT	p.K31N		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	31	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCAGGGCACTTCGGGGGTG	0.622																																						ENST00000392653.2																			0				large_intestine(2)|ovary(1)	3						c.(91-93)aaG>aaT		small proline-rich protein 2A							54	52	53					1																	153029119		2202	4278	6480	SO:0001583	missense	6700				keratinization	cornified envelope|cytoplasm	binding	g.chr1:153029119C>A	X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.93G>T	1.37:g.153029119C>A	ENSP00000376423:p.Lys31Asn						p.K31N	NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	178	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		31			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.		B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	c.93G>T	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	C	5.037	0.192582	0.09599	.	.	ENSG00000241794	ENST00000392653	T	0.44482	0.92	2.79	-3.06	0.05379	.	0.000000	0.37136	N	0.002230	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.30855	0.121	T	0.31586	-0.9938	9	0.87932	D	0	.	8.3444	0.32263	0.0:0.7873:0.0:0.2127	.	31	P35326	SPR2A_HUMAN	N	31	ENSP00000376423:K31N	ENSP00000376423:K31N	K	-	3	2	SPRR2A	151295743	0.005000	0.15991	0.009000	0.14445	0.119000	0.20118	-1.132000	0.03235	-0.916000	0.03818	-0.498000	0.04607	AAG		0.622	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988		142	447	1	0	6.95259e-96	1	8.93585e-96	142	447					A	153029119	C	A	153029119	3	1	79	1	0	0	0	0	1	0	0	0	15149	564	20	3	129	3	SPRR2A	1	153029119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145297	153029119	96221502	1127	11444											
SPRR2G	6706	broad.mit.edu	37	chr1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcacacaggaggtggCtggcagggctgcttgcactg	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(37-39)caG>caT		small proline-rich protein 2G							113	91	99					1																	153122548		2203	4300	6503	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122548C>A	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.39G>T	1.37:g.153122548C>A	ENSP00000357737:p.Gln13His						p.Q13H	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	77	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		13						Missense_Mutation	SNP	ENST00000368748.4	37	c.39G>T	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235718	0.22626	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.40476	1.03	5.36	-1.17	0.09648	.	0.258337	0.20535	N	0.090431	T	0.11239	0.0274	.	.	.	0.22317	N	0.999202	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	9	0.87932	D	0	-5.5941	3.6824	0.08316	0.2683:0.4183:0.0:0.3134	.	13	Q9BYE4	SPR2G_HUMAN	H	13	ENSP00000357737:Q13H	ENSP00000357737:Q13H	Q	-	3	2	SPRR2G	151389172	0.008000	0.16893	0.751000	0.31187	0.738000	0.42128	-1.227000	0.02950	-0.105000	0.12132	-0.208000	0.12717	CAG		0.562	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			91	557	1	0	6.07207e-39	1	7.33261e-39	91	557					A	153122548	C	A	153122548	3	1	79	1	0	0	0	0	1	0	0	0	15154	796	28	3	186	3	SPRR2G	1	153122548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93429	153122548	96128073	1128	11445											
PGLYRP3	114771	broad.mit.edu	37	chr1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgccccccactccttgCgggagacgatggtgggagta	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	26					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627																																						ENST00000290722.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(76-78)cGc>cAc		peptidoglycan recognition protein 3							36	35	35					1																	153279722		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153279722C>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.77G>A	1.37:g.153279722C>T	ENSP00000290722:p.Arg26His						p.R26H	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	129	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		26					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.77G>A	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639998	0.47153	.	.	ENSG00000159527	ENST00000290722	T	0.57436	0.4	4.21	3.27	0.37495	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.172267	0.25906	N	0.027534	T	0.27205	0.0667	L	0.60455	1.87	0.24925	N	0.991952	P	0.47191	0.891	B	0.36289	0.221	T	0.09079	-1.0691	10	0.87932	D	0	-13.0525	10.0377	0.42139	0.0:0.7946:0.2054:0.0	.	26	Q96LB9	PGRP3_HUMAN	H	26	ENSP00000290722:R26H	ENSP00000290722:R26H	R	-	2	0	PGLYRP3	151546346	0.310000	0.24527	0.967000	0.41034	0.072000	0.16883	1.119000	0.31258	1.086000	0.41228	0.655000	0.94253	CGC		0.627	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		7	79	0	0	0	1	0	7	79					T	153279722	C	T	153279722	3	4	79	1	0	0	0	0	1	0	0	0	11837	768	27	1	972	1	PGLYRP3	1	153279722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157174	153279722	95970899	1129	11446											
PGLYRP4	57115	broad.mit.edu	37	chr1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtcccggaccagcaggCggcactcatcagaaatgttg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			GACCAGCAGGCGGCACTCATC	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(745-747)cGc>cAc		peptidoglycan recognition protein 4							101	97	99					1																	153312923		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312923C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.758G>A	1.37:g.153312923C>T	ENSP00000352672:p.Arg253His					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H	p.R249H			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1104	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		253					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.746G>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		98	332	0	0	0	1	0	98	332					T	153312923	C	T	153312923	3	4	79	1	0	0	0	0	1	0	0	0	11838	768	27	1	375	1	PGLYRP4	1	153312923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33201	153312923	95937698	1130	11447											
PGLYRP4	57115	broad.mit.edu	37	chr1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttacccttcttcaggCttgtcttctgccgaggggcc	11	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000359650.5	-	6	678	c.614G>T	c.(613-615)aGc>aTc	p.S205I	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S201I	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	205					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			CTTCTTCAGGCTTGTCTTCTG	0.537																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(601-603)aGc>aTc		peptidoglycan recognition protein 4							108	102	105					1																	153314114		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314114C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.614G>T	1.37:g.153314114C>A	ENSP00000352672:p.Ser205Ile					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S205I	p.S201I			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	960	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		205					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.602G>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881545	0.17467	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23552	1.9;1.9	4.2	-1.28	0.09318	N-acetylmuramoyl-L-alanine amidase domain (4);	0.745300	0.12522	N	0.461528	T	0.04182	0.0116	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16722	0.005;0.016	T	0.41052	-0.9530	10	0.21014	T	0.42	-38.0861	0.9165	0.01305	0.4022:0.2713:0.1759:0.1507	.	201;205	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	I	201;205	ENSP00000357728:S201I;ENSP00000352672:S205I	ENSP00000352672:S205I	S	-	2	0	PGLYRP4	151580738	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.601000	0.02081	-0.042000	0.13535	0.591000	0.81541	AGC		0.537	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		95	558	1	0	8.34767e-46	1	1.02437e-45	95	558					A	153314114	C	A	153314114	3	1	79	1	0	0	0	0	1	0	0	0	11838	797	28	3	523	3	PGLYRP4	1	153314114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	153314114	95936507	1131	11448											
S100A7A	338324	broad.mit.edu	37	chr1	153391710	153391710	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatttttctgagtttctgtcCttgctgggagacatagccgc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153391710C>A	ENST00000368729.4	+	3	288	c.231C>A	c.(229-231)tcC>tcA	p.S77S	S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	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)			AGTTTCTGTCCTTGCTGGGAG	0.517																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(229-231)tcC>tcA		S100 calcium binding protein A7A							96	88	91					1																	153391710		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391710C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.231C>A	1.37:g.153391710C>A						S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	288	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		77			EF-hand 2.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.231C>A	CCDS30872.1																																																																																				0.517	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		14	395	1	0	1.5842e-08	1	1.65642e-08	14	395					A	153391710	C	A	153391710	2	1	79	1	0	0	0	0	0	0	0	1	13834	668	24	3		3	S100A7A	1	153391710	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77596	153391710	95858911	1132	11449											
S100A4	6275	broad.mit.edu	37	chr1	153516359	153516359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgttgctgtccaagTtgctcatcagcttctggaaa	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153516359T>C	ENST00000368716.4	-	3	329	c.182A>G	c.(181-183)aAc>aGc	p.N61S	S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A5_ENST00000359215.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GCTGTCCAAGTTGCTCATCAG	0.507																																						ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(181-183)aAc>aGc		S100 calcium binding protein A4							233	210	218					1																	153516359		2203	4300	6503	SO:0001583	missense	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516359T>C	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"S100 calcium binding proteins", "EF-hand domain containing"	10494	protein-coding gene	gene with protein product	"fibroblast-specific protein-1"	114210	"S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.182A>G	1.37:g.153516359T>C	ENSP00000357705:p.Asn61Ser					S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR	p.N61S	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	329	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		61			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	c.182A>G	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674686	0.47781	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.75	3.54	0.40534	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.174333	0.49305	D	0.000145	T	0.03178	0.0093	N	0.24115	0.695	0.36332	D	0.858924	B	0.02656	0.0	B	0.08055	0.003	T	0.26052	-1.0114	10	0.32370	T	0.25	.	7.7901	0.29114	0.0:0.0:0.2123:0.7876	.	61	P26447	S10A4_HUMAN	S	61;61;61;61;50	ENSP00000357704:N61S;ENSP00000346294:N61S;ENSP00000357705:N61S;ENSP00000357703:N61S	ENSP00000346294:N61S	N	-	2	0	S100A4	151782983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.113000	0.50376	1.788000	0.52465	0.459000	0.35465	AAC		0.507	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		17	1146	0	0	0	1	0	17	1146					C	153516359	T	C	153516359	3	2	79	1	0	0	0	0	1	0	0	0	13830	1725	60	4	127	4	S100A4	1	153516359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124649	153516359	95734262	1133	11450											
S100A13	6284	broad.mit.edu	37	chr1	153598820	153598820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatggggcaactgctgGgtaaccagctctttgaactc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000392623.1	-	2	319	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A1_ENST00000292169.1_5'Flank|S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000392622.1_Silent_p.T43T|S100A1_ENST00000368696.3_5'Flank|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000368699.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	43	EF-hand.				cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCAACTGCTGGGTAACCAGCT	0.527																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.(127-129)acC>acT		S100 calcium binding protein A13	Amlexanox(DB01025)						223	216	218					1																	153598820		2203	4300	6503	SO:0001819	synonymous_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153598820G>A	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"S100 calcium binding proteins"	10490	protein-coding gene	gene with protein product		601989	"S100 calcium-binding protein A13"			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.129C>T	1.37:g.153598820G>A						S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000392622.1_Silent_p.T43T|S100A13_ENST00000392623.1_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|RP1-178F15.5_ENST00000497086.1_RNA	p.T43T	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	632	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		43			EF-hand 1.		Q52PI9|Q6FGF8	Silent	SNP	ENST00000392623.1	37	c.129C>T	CCDS30874.1																																																																																				0.527	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		235	1139	0	0	0	1	0	235	1139					A	153598820	G	A	153598820	2	1	79	1	0	0	0	0	0	0	0	1	13825	1219	43	2		2	S100A13	1	153598820	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82461	153598820	95651801	1134	11451											
ILF2	3608	broad.mit.edu	37	chr1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaatgggatatgtggtaCaaagggcctgaacctaaaac	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	27	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(79-81)Gta>Ata		interleukin enhancer binding factor 2							139	125	129					1																	153642341		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153642341C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.79G>A	1.37:g.153642341C>T	ENSP00000355011:p.Val27Ile					ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	204	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		27					A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.79G>A	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945391	0.53079	.	.	ENSG00000143621	ENST00000361891;ENST00000368681	T	0.45276	0.9	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25332	0.735	0.80722	D	1	B;B	0.33748	0.423;0.298	B;B	0.35859	0.212;0.105	T	0.04915	-1.0918	10	0.24483	T	0.36	-3.085	11.8081	0.52167	0.0:1.0:0.0:0.0	.	27;27	F4ZW62;Q12905	.;ILF2_HUMAN	I	27	ENSP00000355011:V27I	ENSP00000355011:V27I	V	-	1	0	ILF2	151908965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.031000	0.70911	2.163000	0.67991	0.561000	0.74099	GTA		0.388	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		61	335	0	0	0	1	0	61	335					T	153642341	C	T	153642341	3	4	79	1	0	0	0	0	1	0	0	0	7741	478	17	2	1141	2	ILF2	1	153642341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43521	153642341	95608280	1135	11452											
NPR1	4881	broad.mit.edu	37	chr1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtatcccaggaagatgcagCtggagaaggaactggcctcg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	499					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1495-1497)Ctg>Atg		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						79	76	77					1																	153657450		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153657450C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1495C>A	1.37:g.153657450C>A	ENSP00000357669:p.Leu499Met						p.L499M	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1967	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		499					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1495C>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512980	0.64522	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83914	-1.78	4.86	3.96	0.45880	.	0.000000	0.53938	D	0.000048	D	0.87637	0.6227	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.87090	0.2172	10	0.38643	T	0.18	.	10.9002	0.47047	0.0:0.9088:0.0:0.0912	.	4;499	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	499;4	ENSP00000357669:L499M	ENSP00000357669:L499M	L	+	1	2	NPR1	151924074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.911000	0.48774	1.282000	0.44496	-0.136000	0.14681	CTG		0.662	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		144	381	1	0	6.51915e-81	1	8.33962e-81	144	381					A	153657450	C	A	153657450	3	1	79	1	0	0	0	0	1	0	0	0	10636	796	28	3	1525	3	NPR1	1	153657450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15109	153657450	95593171	1136	11453											
INTS3	65123	broad.mit.edu	37	chr1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaagattggttccagcGccagtacctgtcaactccag	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000318967.2	+	10	1569	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000456435.1_Missense_Mutation_p.R128H|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	335					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R334H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498																																						ENST00000456435.1																			1	Substitution - Missense(1)	p.R334H(1)	large_intestine(1)	breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(382-384)cGc>cAc		integrator complex subunit 3							203	181	188					1																	153730091		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153730091G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1001G>A	1.37:g.153730091G>A	ENSP00000318641:p.Arg334His					INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000318967.2_Missense_Mutation_p.R334H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H	p.R128H			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1569	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		335					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.383G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113640	0.94339	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.71581	2.175	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.78314	0.991;0.957;0.872	T	0.76451	-0.2954	9	0.72032	D	0.01	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	128;335;334	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	334;128;334;128	.	ENSP00000318641:R334H	R	+	2	0	INTS3	151996715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.463000	0.83235	0.455000	0.32223	CGC		0.498	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		57	670	0	0	0	1	0	57	670					A	153730091	G	A	153730091	3	1	79	1	0	0	0	0	1	0	0	0	7809	1087	38	1	1039	1	INTS3	1	153730091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72641	153730091	95520530	1137	11454											
INTS3	11000	broad.mit.edu	37	chr1	153744853	153744853	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaagctggcccagctgactCtggagcagatcctggagcac	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153744853C>T	ENST00000368661.3	+	0	0				INTS3_ENST00000435409.2_Silent_p.L920L|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000456435.1_Silent_p.L714L|INTS3_ENST00000476843.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGACTCTGGAGCAGAT	0.587											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2140-2142)Ctg>Ttg		integrator complex subunit 3							91	85	87					1																	153744853		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153744853C>T	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153744853C>T	Exception_encountered		OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	INTS3_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L920L	p.L714L			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		27	3326	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		921					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.2140C>T	CCDS1053.1																																																																																				0.587	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		109	317	0	0	0	1	0	109	317					T	153744853	C	T	153744853	1	4	79	0	1	0	0	0	0	0	0	0	7809	912	32	2		2	INTS3	1	153744853	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14762	153744853	95505768	1138	11455											
GATAD2B	57459	broad.mit.edu	37	chr1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggaccagtcgggctTcttccaatcgtagctcatcc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1; MBD2- and MBD3-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(529-531)gAa>gCa		GATA zinc finger domain containing 2B							131	129	130					1																	153791334		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153791334T>G	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.530A>C	1.37:g.153791334T>G	ENSP00000357644:p.Glu177Ala						p.E177A	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	773	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		177			CR1.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.530A>C	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211116	0.95069	.	.	ENSG00000143614	ENST00000368655	T	0.77229	-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85598	0.1250	10	0.87932	D	0	-8.8656	15.1851	0.72993	0.0:0.0:0.0:1.0	.	177	Q8WXI9	P66B_HUMAN	A	177	ENSP00000357644:E177A	ENSP00000357644:E177A	E	-	2	0	GATAD2B	152057958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.231000	0.72958	0.459000	0.35465	GAA		0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		110	511	0	0	0	1	0	110	511					G	153791334	T	G	153791334	3	3	79	1	0	0	0	0	1	0	0	0	6289	1783	62	4	1283	4	GATAD2B	1	153791334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46481	153791334	95459287	1139	11456											
GATAD2B	57459	broad.mit.edu	37	chr1	153800602	153800602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttaagtttttcttcataGcccttgacaccactgccatc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	74					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(220-222)ggC>ggT		GATA zinc finger domain containing 2B							224	190	202					1																	153800602		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800602G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.222C>T	1.37:g.153800602G>A							p.G74G	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	465	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		74					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.222C>T	CCDS1054.1																																																																																				0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		153	725	0	0	0	1	0	153	725					A	153800602	G	A	153800602	2	1	79	1	0	0	0	0	0	0	0	1	6289	958	34	2		2	GATAD2B	1	153800602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9268	153800602	95450019	1140	11457											
DENND4B	9909	broad.mit.edu	37	chr1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctattggggtcagggGtcagtacatcccacagcagc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1355					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4063-4065)aCc>aTc		DENN/MADD domain containing 4B							35	38	37					1																	153903473		1956	4136	6092	SO:0001583	missense	9909							g.chr1:153903473G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4064C>T	1.37:g.153903473G>A	ENSP00000354597:p.Thr1355Ile					DENND4B_ENST00000474386.1_5'UTR	p.T1355I	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4482	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1355					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4064C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882253	0.33255	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	4.22	0.49857	.	0.292538	0.36972	N	0.002305	T	0.02267	0.0070	N	0.22421	0.69	0.41915	D	0.990484	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.42905	T	0.14	-17.3562	9.4167	0.38525	0.1661:0.0:0.8339:0.0	.	1355	O75064	DEN4B_HUMAN	I	1355	ENSP00000354597:T1355I	ENSP00000354597:T1355I	T	-	2	0	DENND4B	152170097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	1.364000	0.46038	0.563000	0.77884	ACC		0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		33	76	0	0	0	1	0	33	76					A	153903473	G	A	153903473	3	1	79	1	0	0	0	0	1	0	0	0	4450	1261	44	2	442	2	DENND4B	1	153903473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102871	153903473	95347148	1141	11458											
DENND4B	9909	broad.mit.edu	37	chr1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtacatcccacagcagccGtacctgaacagaggctggat	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1348					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4042-4044)Cgg>Tgg		DENN/MADD domain containing 4B							31	34	33					1																	153903495		1975	4151	6126	SO:0001583	missense	9909							g.chr1:153903495G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4042C>T	1.37:g.153903495G>A	ENSP00000354597:p.Arg1348Trp					DENND4B_ENST00000474386.1_5'UTR	p.R1348W	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4460	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1348					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4042C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666975	0.67814	.	.	ENSG00000198837	ENST00000361217	T	0.08370	3.1	5.14	4.23	0.50019	.	0.120058	0.56097	D	0.000030	T	0.04770	0.0129	L	0.54323	1.7	0.47153	D	0.999338	B	0.11235	0.004	B	0.08055	0.003	T	0.08310	-1.0728	10	0.87932	D	0	-14.5368	12.8832	0.58028	0.0798:0.0:0.9202:0.0	.	1348	O75064	DEN4B_HUMAN	W	1348	ENSP00000354597:R1348W	ENSP00000354597:R1348W	R	-	1	2	DENND4B	152170119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	1.392000	0.46585	0.563000	0.77884	CGG		0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		15	90	0	0	0	1	0	15	90					A	153903495	G	A	153903495	3	1	79	1	0	0	0	0	1	0	0	0	4450	1144	40	1	464	1	DENND4B	1	153903495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	153903495	95347126	1142	11459											
DENND4B	9909	broad.mit.edu	37	chr1	153903514	153903514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtacctgaacagaggctggAtcaggggttagccaaggaga	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1341					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGCTGGATCAGGGGTTA	0.572																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4021-4023)gaT>gaC		DENN/MADD domain containing 4B							28	31	30					1																	153903514		1995	4165	6160	SO:0001819	synonymous_variant	9909							g.chr1:153903514A>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4023T>C	1.37:g.153903514A>G						DENND4B_ENST00000474386.1_5'UTR	p.D1341D	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4441	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1341					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.4023T>C	CCDS44228.1																																																																																				0.572	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		11	85	0	0	0	1	0	11	85					G	153903514	A	G	153903514	2	3	79	1	0	0	0	0	0	0	0	1	4450	330	12	4		4	DENND4B	1	153903514	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	153903514	95347107	1143	11460											
DENND4B	9909	broad.mit.edu	37	chr1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatccagggcgctcccGggggtgcagaagactgtcca	16	11	0	2	rs369938170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1101					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3301-3303)Cgg>Tgg		DENN/MADD domain containing 4B		G	TRP/ARG	2,3794		0,2,1896	14	16	15		3301	4.3	1	1		15	0,8062		0,0,4031	no	missense	DENND4B	NM_014856.2	101	0,2,5927	AA,AG,GG		0.0,0.0527,0.0169	probably-damaging	1101/1497	153905988	2,11856	1898	4031	5929	SO:0001583	missense	9909							g.chr1:153905988G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3301C>T	1.37:g.153905988G>A	ENSP00000354597:p.Arg1101Trp						p.R1101W	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3719	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1101					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3301C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520513	0.64747	5.27E-4	0.0	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08458	3.18;3.09	5.17	4.26	0.50523	.	0.604283	0.16522	N	0.210745	T	0.03178	0.0093	N	0.14661	0.345	0.32359	N	0.557483	D	0.69078	0.997	P	0.47603	0.551	T	0.35624	-0.9781	10	0.72032	D	0.01	-25.4046	10.9546	0.47349	0.0877:0.0:0.9123:0.0	.	1101	O75064	DEN4B_HUMAN	W	1101;1112	ENSP00000354597:R1101W;ENSP00000357635:R1112W	ENSP00000354597:R1101W	R	-	1	2	DENND4B	152172612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.929000	0.48916	1.416000	0.47057	0.455000	0.32223	CGG		0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		49	147	0	0	0	1	0	49	147					A	153905988	G	A	153905988	3	1	79	1	0	0	0	0	1	0	0	0	4450	1115	39	1	1225	1	DENND4B	1	153905988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2474	153905988	95344633	1144	11461											
DENND4B	9909	broad.mit.edu	37	chr1	153907339	153907339	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgccgttctctcaaGggctggcggaactgagcagc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	890	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2668-2670)ccC>ccA		DENN/MADD domain containing 4B							62	73	70					1																	153907339		2193	4287	6480	SO:0001819	synonymous_variant	9909							g.chr1:153907339G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2670C>A	1.37:g.153907339G>T							p.P890P	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3088	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		890			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2670C>A	CCDS44228.1																																																																																				0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		100	547	1	0	1.32035e-51	1	1.6395e-51	100	547					T	153907339	G	T	153907339	2	4	79	1	0	0	0	0	0	0	0	1	4450	987	35	3		3	DENND4B	1	153907339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1351	153907339	95343282	1145	11462											
DENND4B	9909	broad.mit.edu	37	chr1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccgaccgcacataggCaggcagacacaggaaccaca	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	781					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2341-2343)Gcc>Acc		DENN/MADD domain containing 4B							44	48	47					1																	153909116		2130	4229	6359	SO:0001583	missense	9909							g.chr1:153909116C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2341G>A	1.37:g.153909116C>T	ENSP00000354597:p.Ala781Thr						p.A781T	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2759	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		781					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2341G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551604	0.45487	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07021	3.24;3.23	4.77	4.77	0.60923	.	0.060224	0.64402	D	0.000002	T	0.01870	0.0059	N	0.13299	0.325	0.37388	D	0.912324	B	0.17852	0.024	B	0.11329	0.006	T	0.40608	-0.9554	10	0.38643	T	0.18	-17.5058	7.0873	0.25264	0.0:0.8157:0.0:0.1843	.	781	O75064	DEN4B_HUMAN	T	781;792	ENSP00000354597:A781T;ENSP00000357635:A792T	ENSP00000354597:A781T	A	-	1	0	DENND4B	152175740	0.181000	0.23161	0.905000	0.35620	0.600000	0.36913	0.651000	0.24873	2.463000	0.83235	0.462000	0.41574	GCC		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		64	129	0	0	0	1	0	64	129					T	153909116	C	T	153909116	3	4	79	1	0	0	0	0	1	0	0	0	4450	710	25	2	2201	2	DENND4B	1	153909116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1777	153909116	95341505	1146	11463											
CREB3L4	148327	broad.mit.edu	37	chr1	153945234	153945234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctgccctgtcaaacCctgttcctgaccgatgagga	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Silent_p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	186					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(556-558)acC>acT		cAMP responsive element binding protein 3-like 4							57	52	53					1																	153945234		2203	4300	6503	SO:0001819	synonymous_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945234C>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.558C>T	1.37:g.153945234C>T						CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000271889.4_Silent_p.T186T	p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	824	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		186					D3DV62|Q5T4L0|Q86YW6	Silent	SNP	ENST00000368607.3	37	c.558C>T	CCDS1056.1																																																																																				0.607	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		39	156	0	0	0	1	0	39	156					T	153945234	C	T	153945234	2	4	79	1	0	0	0	0	0	0	0	1	3868	610	22	2		2	CREB3L4	1	153945234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36118	153945234	95305387	1147	11464											
JTB	10899	broad.mit.edu	37	chr1	153947167	153947167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgtagctatatggactcGatttgcttccggaccttttc	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	143					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(427-429)atC>atT		jumping translocation breakpoint							146	137	140					1																	153947167		2203	4300	6503	SO:0001819	synonymous_variant	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947167G>A	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.429C>T	1.37:g.153947167G>A						JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I	p.I143I	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	864	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		143					O95442|Q6IB19|Q9P0Q4	Silent	SNP	ENST00000271843.4	37	c.429C>T	CCDS1057.1																																																																																				0.478	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		59	623	0	0	0	1	0	59	623					A	153947167	G	A	153947167	2	1	79	1	0	0	0	0	0	0	0	1	7997	1048	37	1		1	JTB	1	153947167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1933	153947167	95303454	1148	11465											
RAB13	5872	broad.mit.edu	37	chr1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaccgctcttggccagCcgtgtccctaaagaaggaga	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	65					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(193-195)Gct>Act		RAB13, member RAS oncogene family							71	65	67					1																	153956050		2203	4300	6503	SO:0001583	missense	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153956050C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"RAB, member RAS oncogene"	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.193G>A	1.37:g.153956050C>T	ENSP00000357564:p.Ala65Thr					RAB13_ENST00000462680.1_5'UTR	p.A65T	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	308	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		65					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	37	c.193G>A	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593984	0.96602	.	.	ENSG00000143545	ENST00000368575	D	0.88741	-2.42	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.96841	0.9618	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	65;65	D3DV69;P51153	.;RAB13_HUMAN	T	65	ENSP00000357564:A65T	ENSP00000357564:A65T	A	-	1	0	RAB13	152222674	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.199000	0.77831	2.890000	0.99128	0.650000	0.86243	GCT		0.443	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		36	145	0	0	0	1	0	36	145					T	153956050	C	T	153956050	3	4	79	1	0	0	0	0	1	0	0	0	12949	739	26	2	442	2	RAB13	1	153956050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8883	153956050	95294571	1149	11466											
RPS27	6232	broad.mit.edu	37	chr1	153964128	153964128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctctgccagcctacaGgaggaaaagcaaggcttaca	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153964128G>T	ENST00000368567.4	+	3	240	c.202G>T	c.(202-204)Gga>Tga	p.G68*	RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	68					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCTACAGGAGGAAAAGC	0.413																																						ENST00000368567.4																			0				kidney(1)	1						c.(202-204)Gga>Tga		ribosomal protein S27							65	67	67					1																	153964128		2203	4300	6503	SO:0001587	stop_gained	6232				cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding	g.chr1:153964128G>T	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"S ribosomal proteins"	10416	protein-coding gene	gene with protein product	"metallopanstimulin 1"	603702	"ribosomal protein S27 (metallopanstimulin 1)"			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.202G>T	1.37:g.153964128G>T	ENSP00000357555:p.Gly68*					RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_3'UTR	p.G68*	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	240	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68					Q5T4L6	Nonsense_Mutation	SNP	ENST00000368567.4	37	c.202G>T	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242058	0.79912	.	.	ENSG00000177954	ENST00000368567	.	.	.	5.35	5.35	0.76521	.	0.116646	0.31809	N	0.007037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7422	17.8155	0.88632	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000357555:G68X	G	+	1	0	RPS27	152230752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.456000	0.97628	2.494000	0.84150	0.462000	0.41574	GGA		0.413	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030		6	231	1	0	0.00116845	1	0.00118049	6	231					T	153964128	G	T	153964128	4	4	79	1	0	0	0	0	0	1	0	0	13688	1001	35	3	212	3	RPS27	1	153964128	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8078	153964128	95286493	1150	11467											
NUP210L	91181	broad.mit.edu	37	chr1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattgcagtccccggactcCtggccactcctactccagtg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M|NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1531					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			CCCCGGACTCCTGGCCACTCC	0.428																																						ENST00000368559.3																			0				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						c.(4591-4593)aGg>aTg		nucleoporin 210kDa-like							90	87	88					1																	153991470		1884	4123	6007	SO:0001583	missense	91181					integral to membrane		g.chr1:153991470C>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.4592G>T	1.37:g.153991470C>A	ENSP00000357547:p.Arg1531Met					NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M|NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M	p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		33	4663	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1531					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4592G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372609	0.82573	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.25579	3.4;1.79;3.13	5.61	5.61	0.85477	.	0.084000	0.48286	D	0.000199	T	0.30510	0.0767	M	0.69358	2.11	0.36448	D	0.865884	D;D	0.76494	0.999;0.999	P;P	0.61328	0.862;0.887	T	0.11372	-1.0590	10	0.33940	T	0.23	-6.8879	9.0841	0.36570	0.0:0.8717:0.0:0.1283	.	1531;1531	E7EP56;Q5VU65	.;P210L_HUMAN	M	1531;464;1531	ENSP00000357547:R1531M;ENSP00000357541:R464M;ENSP00000271854:R1531M	ENSP00000271854:R1531M	R	-	2	0	NUP210L	152258094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.631000	0.89168	0.655000	0.94253	AGG		0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		71	360	1	0	3.41413e-29	1	3.98584e-29	71	360					A	153991470	C	A	153991470	3	1	79	1	0	0	0	0	1	0	0	0	10803	681	24	3	1106	3	NUP210L	1	153991470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27342	153991470	95259151	1151	11468											
NUP210L	91181	broad.mit.edu	37	chr1	153998021	153998021	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagtccatgaactcacctgGaccccagttatggttgtttg	9	10	1	1	rs577952223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1373					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			AACTCACCTGGACCCCAGTTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15586	0.001		0.0	False		,,,				2504	0.0					ENST00000368559.3																			0				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						c.(4117-4119)gtC>gtT		nucleoporin 210kDa-like							139	132	134					1																	153998021		1825	4081	5906	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153998021G>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.4119C>T	1.37:g.153998021G>A						NUP210L_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	p.V1373V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4190	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1373					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4119C>T	CCDS41399.1																																																																																				0.373	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		117	646	0	0	0	1	0	117	646					A	153998021	G	A	153998021	2	1	79	1	0	0	0	0	0	0	0	1	10803	1161	41	2		2	NUP210L	1	153998021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6551	153998021	95252600	1152	11469											
NUP210L	91181	broad.mit.edu	37	chr1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagtgaacgatggaTtggggctgggggccaccttc	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H|NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1111					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			GAACGATGGATTGGGGCTGGG	0.458																																						ENST00000368559.3																			0				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						c.(3331-3333)caA>caC		nucleoporin 210kDa-like							94	91	92					1																	154026854		1913	4116	6029	SO:0001583	missense	91181					integral to membrane		g.chr1:154026854T>G	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.3333A>C	1.37:g.154026854T>G	ENSP00000357547:p.Gln1111His					NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H|NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H	p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		25	3404	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1111					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3333A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622680	0.66787	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.43688	0.94;0.94;0.94	5.03	-4.47	0.03525	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000024	T	0.45776	0.1359	M	0.75447	2.3	0.31872	N	0.619558	D;D	0.76494	0.998;0.999	D;D	0.87578	0.993;0.998	T	0.56111	-0.8033	10	0.49607	T	0.09	-15.7413	13.811	0.63264	0.0:0.5615:0.0:0.4385	.	1111;1111	E7EP56;Q5VU65	.;P210L_HUMAN	H	1111;44;1111	ENSP00000357547:Q1111H;ENSP00000357541:Q44H;ENSP00000271854:Q1111H	ENSP00000271854:Q1111H	Q	-	3	2	NUP210L	152293478	0.006000	0.16342	0.859000	0.33776	0.958000	0.62258	-1.428000	0.02439	-0.754000	0.04715	-0.371000	0.07208	CAA		0.458	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		111	322	0	0	0	1	0	111	322					G	154026854	T	G	154026854	3	3	79	1	0	0	0	0	1	0	0	0	10803	1490	52	4	2397	4	NUP210L	1	154026854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28833	154026854	95223767	1153	11470											
NUP210L	91181	broad.mit.edu	37	chr1	154062023	154062023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaacctctacagctggActagggttcaggacacctgg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154062023A>C	ENST00000368559.3	-	16	2306	c.2235T>G	c.(2233-2235)agT>agG	p.S745R	NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	745					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				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)			CTACAGCTGGACTAGGGTTCA	0.483																																						ENST00000368559.3																			0				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						c.(2233-2235)agT>agG		nucleoporin 210kDa-like							113	110	111					1																	154062023		1914	4131	6045	SO:0001583	missense	91181					integral to membrane		g.chr1:154062023A>C	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.2235T>G	1.37:g.154062023A>C	ENSP00000357547:p.Ser745Arg					NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2306	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		745					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2235T>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636657	0.67130	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23552	1.9;1.9	4.56	0.898	0.19264	.	0.206970	0.34338	N	0.004041	T	0.16385	0.0394	L	0.44542	1.39	0.32872	D	0.509353	D;D	0.64830	0.994;0.993	P;P	0.59288	0.829;0.855	T	0.05084	-1.0907	10	0.26408	T	0.33	-25.0072	7.3792	0.26845	0.621:0.0:0.379:0.0	.	745;745	E7EP56;Q5VU65	.;P210L_HUMAN	R	745	ENSP00000357547:S745R;ENSP00000271854:S745R	ENSP00000271854:S745R	S	-	3	2	NUP210L	152328647	0.481000	0.25941	1.000000	0.80357	0.991000	0.79684	0.314000	0.19432	0.278000	0.22164	0.377000	0.23210	AGT		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		12	524	0	0	0	1	0	12	524					C	154062023	A	C	154062023	3	2	79	1	0	0	0	0	1	0	0	0	10803	272	10	4	3531	4	NUP210L	1	154062023	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35169	154062023	95188598	1154	11471											
TPM3	7170	broad.mit.edu	37	chr1	154142946	154142946	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcagcacgggtctctgcCtgggggaaatatgaaattag	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368530.2	-	8	898		c.e8-1		TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000302206.5_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000368533.3_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000271850.7_Splice_Site	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGGTCTCTGCCTGGGGGAAAT	0.448			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"E, L"	"NTRK1, ALK, ROS1"		"papillary thyroid, ALCL, NSCLC"	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.e7-1		tropomyosin 3							70	72	71					1																	154142946		2203	4300	6503	SO:0001630	splice_region_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154142946C>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.706-1G>T	1.37:g.154142946C>A						TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000368530.2_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000302206.5_Splice_Site|TPM3_ENST00000469717.1_Splice_Site		NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			7	647	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Splice_Site	SNP	ENST00000368530.2	37		CCDS41403.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107705	0.77096	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1897	0.89803	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM3	152409570	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.601000	0.87937	0.563000	0.77884	.		0.448	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263	Intron	14	530	1	0	2.31682e-05	1	2.36778e-05	14	530					A	154142946	C	A	154142946	5	1	79	1	0	0	0	0	0	0	1	0	16460	695	24	3	335	3	TPM3	1	154142946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80923	154142946	95107675	1155	11472											
C1orf43	25912	broad.mit.edu	37	chr1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgtcccatagcgggCtgtttcatagccatccaaaa	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	164						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(490-492)Gcc>Acc		chromosome 1 open reading frame 43							85	81	82					1																	154184951		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154184951C>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.490G>A	1.37:g.154184951C>T	ENSP00000357507:p.Ala164Thr					C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T	p.A164T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			5	688	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		164					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.490G>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239370	0.79800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.80616	2.505	0.80722	D	1	P;P;D;B;P	0.63880	0.801;0.801;0.993;0.361;0.834	B;B;D;B;P	0.63703	0.434;0.434;0.917;0.133;0.57	T	0.78763	-0.2077	9	0.87932	D	0	-17.7958	18.3255	0.90252	0.0:1.0:0.0:0.0	.	146;130;164;112;130	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	T	130;164;112;146;164;130	.	ENSP00000271925:A130T	A	-	1	0	C1orf43	152451575	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.017000	0.76399	2.814000	0.96858	0.585000	0.79938	GCC		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		144	357	0	0	0	1	0	144	357					T	154184951	C	T	154184951	3	4	79	1	0	0	0	0	1	0	0	0	2047	797	28	2	283	2	C1orf43	1	154184951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42005	154184951	95065670	1156	11473											
C1orf43	25912	broad.mit.edu	37	chr1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaattcttgcccattaagGaacggggatgccggccttca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	126						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(376-378)tCc>tTc		chromosome 1 open reading frame 43							62	60	61					1																	154185064		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154185064G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.377C>T	1.37:g.154185064G>A	ENSP00000357507:p.Ser126Phe					C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F	p.S126F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			5	575	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		126					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.377C>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450681	0.26074	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	.	0.105696	0.64402	D	0.000003	T	0.43211	0.1237	L	0.60455	1.87	0.50039	D	0.999843	B;B;B;B;B	0.24258	0.028;0.082;0.089;0.008;0.1	B;B;B;B;B	0.29942	0.027;0.039;0.109;0.01;0.066	T	0.48758	-0.9007	9	0.59425	D	0.04	-18.5473	9.4956	0.38986	0.0739:0.0:0.7829:0.1433	.	108;92;126;74;92	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	F	92;126;74;108;126;92	.	ENSP00000271925:S92F	S	-	2	0	C1orf43	152451688	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	6.720000	0.74723	0.820000	0.34516	-0.302000	0.09304	TCC		0.443	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		24	267	0	0	0	1	0	24	267					A	154185064	G	A	154185064	3	1	79	1	0	0	0	0	1	0	0	0	2047	1174	41	2	396	2	C1orf43	1	154185064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	154185064	95065557	1157	11474											
UBAP2L	9898	broad.mit.edu	37	chr1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagggatggtagcctggCcagcaacccttattctggta	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000361546.2	+	21	2603	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	854					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTAGCCTGGCCAGCAACCCT	0.473																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(2560-2562)gCc>gTc		ubiquitin associated protein 2-like							89	88	89					1																	154232488		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154232488C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2561C>T	1.37:g.154232488C>T	ENSP00000355343:p.Ala854Val					UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.A854V|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V	p.A854V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		22	2728	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		854					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2561C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798759	0.70567	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.06	5.06	0.68205	.	0.183950	0.47852	D	0.000212	T	0.38558	0.1045	L	0.48642	1.525	0.37479	D	0.915909	D;B;B;B;P;B;P	0.57257	0.979;0.069;0.039;0.039;0.634;0.008;0.94	P;B;B;B;B;B;P	0.58130	0.833;0.037;0.023;0.023;0.204;0.015;0.771	T	0.30090	-0.9990	10	0.87932	D	0	-4.4735	13.9417	0.64059	0.0:0.8354:0.1646:0.0	.	768;865;847;854;350;854;854	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	V	854;854;350;350;865;854	ENSP00000345308:A854V;ENSP00000389445:A854V;ENSP00000271877:A865V;ENSP00000355343:A854V	ENSP00000271877:A865V	A	+	2	0	UBAP2L	152499112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.621000	0.88768	0.650000	0.86243	GCC		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		67	415	0	0	0	1	0	67	415					T	154232488	C	T	154232488	3	4	79	1	0	0	0	0	1	0	0	0	16892	739	26	2	2643	2	UBAP2L	1	154232488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47424	154232488	95018133	1158	11475											
ATP8B2	89872	broad.mit.edu	37	chr1	154300337	154300337	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttctcctttccctacaGgcatgggcttctgtaaagtc	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154300337G>T	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368487.3_Intron|ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Splice_Site_p.R21M	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCCCTACAGGCATGGGCTT	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e1+1		ATPase, aminophospholipid transporter, class I, type 8B, member 2							184	173	177					1																	154300337		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300337G>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300337G>T						ATP8B2_ENST00000368487.3_Intron	p.R21_splice	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	62	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Splice_Site	SNP	ENST00000324978.3	37	c.62_splice	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337067	0.24253	.	.	ENSG00000143515	ENST00000368489	T	0.09817	2.94	3.21	-0.00885	0.14003	.	10.638800	0.00166	U	0.000010	T	0.01905	0.0060	.	.	.	0.09310	N	0.999999	P	0.43352	0.804	B	0.32289	0.143	T	0.30621	-0.9972	9	0.51188	T	0.08	.	3.0897	0.06290	0.2991:0.2288:0.4721:0.0	.	21	P98198-3	.	M	21	ENSP00000357475:R21M	ENSP00000357475:R21M	R	+	2	0	ATP8B2	152566961	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.579000	0.23788	0.006000	0.14734	0.455000	0.32223	AGG		0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		27	650	1	0	4.74835e-14	1	5.14536e-14	27	650					T	154300337	G	T	154300337	1	4	79	0	1	0	0	0	0	0	0	0	1196	1014	35	3		3	ATP8B2	1	154300337	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67849	154300337	94950284	1159	11476											
IL6R	3570	broad.mit.edu	37	chr1	154401729	154401729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgactctgacctgccCgggggtagagccggaagaca	15	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154401729C>T	ENST00000368485.3	+	2	580	c.143C>T	c.(142-144)cCg>cTg	p.P48L	IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGACCTGCCCGGGGGTAGAG	0.637																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(142-144)cCg>cTg		interleukin 6 receptor							71	70	70					1																	154401729		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154401729C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.143C>T	1.37:g.154401729C>T	ENSP00000357470:p.Pro48Leu					IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	580	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		48			Ig-like C2-type.		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.143C>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	3.209	-0.162064	0.06502	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.17213	2.29;2.7;2.7	4.85	2.83	0.33086	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.223860	0.05530	N	0.563856	T	0.03477	0.0100	L	0.29908	0.895	0.42816	D	0.993973	P;P	0.47962	0.903;0.844	B;B	0.30646	0.118;0.055	T	0.51679	-0.8675	10	0.23891	T	0.37	-11.0365	6.0098	0.19569	0.0:0.7644:0.0:0.2356	.	48;48	P08887-2;P08887	.;IL6RA_HUMAN	L	48	ENSP00000357470:P48L;ENSP00000340589:P48L;ENSP00000423184:P48L	ENSP00000340589:P48L	P	+	2	0	IL6R	152668353	0.383000	0.25156	0.851000	0.33527	0.021000	0.10359	0.507000	0.22675	1.268000	0.44264	-0.258000	0.10820	CCG		0.637	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		11	487	0	0	0	1	0	11	487					T	154401729	C	T	154401729	3	4	79	1	0	0	0	0	1	0	0	0	7732	652	23	1	149	1	IL6R	1	154401729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101392	154401729	94848892	1160	11477											
IL6R	3570	broad.mit.edu	37	chr1	154420626	154420626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtcctccagctgagaaCgaggtgtccacccccatgca	11	14	0	1	rs372039120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000344086.4_Silent_p.N325N|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	325					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CAGCTGAGAACGAGGTGTCCA	0.542																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(973-975)aaC>aaT		interleukin 6 receptor		C	,	0,4406		0,0,2203	108	107	107		975,975	-7.9	0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL6R	NM_000565.3,NM_181359.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	325/469,325/366	154420626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154420626C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.975C>T	1.37:g.154420626C>T						IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Silent_p.N325N	p.N325N	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1412	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		325					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	c.975C>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	2.700	-0.271183	0.05716	0.0	1.16E-4	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.96	-7.93	0.01156	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15263	-1.0443	4	.	.	.	0.1431	7.4401	0.27179	0.0:0.2439:0.4064:0.3497	.	.	.	.	M	264;128	.	.	T	+	2	0	IL6R	152687250	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.845000	0.00735	-2.316000	0.00645	-0.819000	0.03115	ACG		0.542	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		17	526	0	0	0	1	0	17	526					T	154420626	C	T	154420626	2	4	79	1	0	0	0	0	0	0	0	1	7732	535	19	1		1	IL6R	1	154420626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	154420626	94829995	1161	11478											
IL6R	3570	broad.mit.edu	37	chr1	154437670	154437670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacaagcatgcatccgccGtactctttggggcagctggt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	407					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGCATCCGCCGTACTCTTTGG	0.567																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(1219-1221)ccG>ccA		interleukin 6 receptor							90	86	88					1																	154437670		2203	4300	6503	SO:0001819	synonymous_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154437670G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1221G>A	1.37:g.154437670G>A						IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_3'UTR	p.P407P	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	1658	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		407					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	c.1221G>A	CCDS1067.1																																																																																				0.567	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		91	397	0	0	0	1	0	91	397					A	154437670	G	A	154437670	2	1	79	1	0	0	0	0	0	0	0	1	7732	1132	40	1		1	IL6R	1	154437670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17044	154437670	94812951	1162	11479											
CHRNB2	1141	broad.mit.edu	37	chr1	154544331	154544331	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctggagaagctgccCgcgctgctcttcatgcagca	11	14	3	1	rs374720331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154544331C>A	ENST00000368476.3	+	5	1296	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	344					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AGAAGCTGCCCGCGCTGCTCT	0.687																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(1030-1032)ccC>ccA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						46	31	36					1																	154544331		2203	4299	6502	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544331C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1032C>A	1.37:g.154544331C>A							p.P344P	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1296	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		344					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.1032C>A	CCDS1070.1																																																																																				0.687	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		6	115	1	0	0.0293803	1	0.0294705	6	115					A	154544331	C	A	154544331	2	1	79	1	0	0	0	0	0	0	0	1	3400	639	23	3		3	CHRNB2	1	154544331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106661	154544331	94706290	1163	11480											
ADAR	103	broad.mit.edu	37	chr1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggcttcctctgcggCcatctgctttgccactttct	7	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	672	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTCTGCGGCCATCTGCTTT	0.532																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2014-2016)Gcc>Acc		adenosine deaminase, RNA-specific							72	68	70					1																	154569664		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569664C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2014G>A	1.37:g.154569664C>T	ENSP00000357459:p.Ala672Thr					ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	p.A672T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	5	2213	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		672			DRBM 2.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2014G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771357	0.96922	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97553	1.0093	10	0.66056	D	0.02	-17.8525	19.4276	0.94749	0.0:1.0:0.0:0.0	.	672;672;672	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	715;672;377;667	ENSP00000292205:A715T;ENSP00000357459:A672T;ENSP00000357456:A377T;ENSP00000431794:A667T	ENSP00000292205:A715T	A	-	1	0	ADAR	152836288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.813000	0.96785	0.655000	0.94253	GCC		0.532	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		65	336	0	0	0	1	0	65	336					T	154569664	C	T	154569664	3	4	79	1	0	0	0	0	1	0	0	0	281	739	26	2	1710	2	ADAR	1	154569664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25333	154569664	94680957	1164	11481											
ADAR	103	broad.mit.edu	37	chr1	154574527	154574527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcctgagtggagaccgcGattttccacaaagggggtgt	14	9	0	2	rs202096621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	197					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I197I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19907	0.001		0.0	False		,,,				2504	0.0					ENST00000368474.4																			1	Substitution - coding silent(1)	p.I197I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(589-591)atC>atT		adenosine deaminase, RNA-specific							108	114	112					1																	154574527		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574527G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.591C>T	1.37:g.154574527G>A						ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I	p.I197I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	790	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		197					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.591C>T	CCDS1071.1																																																																																				0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		201	635	0	0	0	1	0	201	635					A	154574527	G	A	154574527	2	1	79	1	0	0	0	0	0	0	0	1	281	1048	37	1		1	ADAR	1	154574527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4863	154574527	94676094	1165	11482											
ADAR	103	broad.mit.edu	37	chr1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactgggggaagatcctgGcccaggctgctggtacctga	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	32					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAGATCCTGGCCCAGGCTGC	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(94-96)Cca>Tca		adenosine deaminase, RNA-specific							44	45	45					1																	154575024		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154575024G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.94C>T	1.37:g.154575024G>A	ENSP00000357459:p.Pro32Ser					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S	p.P32S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	293	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		32					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.94C>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401588	0.25291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10960	2.82;2.83;2.84	4.56	1.43	0.22495	.	2.127140	0.01524	N	0.018491	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20671	0.047;0.002;0.002;0.001	B;B;B;B	0.15484	0.013;0.005;0.005;0.003	T	0.38845	-0.9642	10	0.15952	T	0.53	0.7111	6.0133	0.19588	0.1653:0.0:0.6847:0.15	.	32;32;32;32	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	S	75;32;27	ENSP00000292205:P75S;ENSP00000357459:P32S;ENSP00000431794:P27S	ENSP00000292205:P75S	P	-	1	0	ADAR	152841648	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.689000	0.25437	0.191000	0.20236	0.561000	0.74099	CCA		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		68	257	0	0	0	1	0	68	257					A	154575024	G	A	154575024	3	1	79	1	0	0	0	0	1	0	0	0	281	1203	42	2	3642	2	ADAR	1	154575024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	154575024	94675597	1166	11483											
KCNN3	3782	broad.mit.edu	37	chr1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcagcatgactcgggCgatcaggtacaggcgcagga	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	424					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ATGACTCGGGCGATCAGGTAC	0.602																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1255-1257)Gcc>Acc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							108	88	95					1																	154744644		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744644C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1255G>A	1.37:g.154744644C>T	ENSP00000271915:p.Ala419Thr					KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	p.A419T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1570	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		424					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1255G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729773	0.89390	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.23950	1.88;1.88;1.88	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000044	T	0.30448	0.0765	L	0.60455	1.87	0.52501	D	0.999951	D;D;P	0.67145	0.996;0.969;0.861	P;P;P	0.53035	0.716;0.493;0.473	T	0.08006	-1.0743	10	0.62326	D	0.03	-14.5979	17.3493	0.87318	0.0:1.0:0.0:0.0	.	425;424;114	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	T	114;419;106	ENSP00000354764:A114T;ENSP00000271915:A419T;ENSP00000351295:A106T	ENSP00000271915:A419T	A	-	1	0	KCNN3	153011268	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.647000	0.83462	2.413000	0.81919	0.561000	0.74099	GCC		0.602	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		92	313	0	0	0	1	0	92	313					T	154744644	C	T	154744644	3	4	79	1	0	0	0	0	1	0	0	0	8110	768	27	1	964	1	KCNN3	1	154744644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169620	154744644	94505977	1167	11484											
PYGO2	90780	broad.mit.edu	37	chr1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctccgaagggcacaGgactgccaaggaatggaggg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	98	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10						c.(292-294)cCt>cAt		pygopus family PHD finger 2							20	22	21					1																	154932183		2203	4300	6503	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932183G>T	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"Zinc fingers, PHD-type"	30257	protein-coding gene	gene with protein product		606903	"pygopus homolog 2 (Drosophila)"			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.293C>A	1.37:g.154932183G>T	ENSP00000357442:p.Pro98His					PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H	p.P98H	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	464	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		98			Pro-rich.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.293C>A	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028263	0.54790	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.57107	0.42;0.47	4.85	3.93	0.45458	.	0.839882	0.10411	N	0.677871	T	0.44850	0.1313	N	0.19112	0.55	0.44555	D	0.997518	D	0.89917	1.0	D	0.65987	0.94	T	0.39961	-0.9588	10	0.36615	T	0.2	-0.378	13.4807	0.61334	0.0:0.0:0.8419:0.1581	.	98	Q9BRQ0	PYGO2_HUMAN	H	98;61	ENSP00000357442:P98H;ENSP00000357441:P61H	ENSP00000357441:P61H	P	-	2	0	PYGO2	153198807	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	6.143000	0.71756	1.256000	0.44068	0.455000	0.32223	CCT		0.642	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		36	151	1	0	6.53348e-20	1	7.30415e-20	36	151					T	154932183	G	T	154932183	3	4	79	1	0	0	0	0	1	0	0	0	12914	1000	35	3	931	3	PYGO2	1	154932183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187539	154932183	94318438	1168	11485											
PYGO2	90780	broad.mit.edu	37	chr1	154932251	154932251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatcttcaaaagggttGgatgcaaccaggtgatccac	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	75	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10						c.(223-225)tcC>tcT		pygopus family PHD finger 2							38	41	40					1																	154932251		2203	4300	6503	SO:0001819	synonymous_variant	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932251G>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"Zinc fingers, PHD-type"	30257	protein-coding gene	gene with protein product		606903	"pygopus homolog 2 (Drosophila)"			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.225C>T	1.37:g.154932251G>A						PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S	p.S75S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	396	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		75			Pro-rich.		Q8WYZ4|Q96CY2	Silent	SNP	ENST00000368457.2	37	c.225C>T	CCDS1075.1																																																																																				0.582	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		47	117	0	0	0	1	0	47	117					A	154932251	G	A	154932251	2	1	79	1	0	0	0	0	0	0	0	1	12914	1335	47	2		2	PYGO2	1	154932251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	154932251	94318370	1169	11486											
FLAD1	80308	broad.mit.edu	37	chr1	154960890	154960890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggtgccctcctctgccCgcctgcattatggcacagat	9	15	1	1	rs374803472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154960890C>T	ENST00000292180.3	+	2	1004	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368433.1_Missense_Mutation_p.R228C|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	228					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCTCTGCCCGCCTGCATTA	0.562																																						ENST00000368433.1																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(682-684)Cgc>Tgc		flavin adenine dinucleotide synthetase 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	70	70		391,385,682,391	2.9	1	1		70	0,8600		0,0,4300	no	missense,missense,missense,missense	FLAD1	NM_001184891.1,NM_001184892.1,NM_025207.4,NM_201398.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	131/447,129/295,228/588,131/491	154960890	1,13005	2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154960890C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.682C>T	1.37:g.154960890C>T	ENSP00000292180:p.Arg228Cys					FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000292180.3_Missense_Mutation_p.R228C|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C	p.R228C			Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1025	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		228					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.682C>T	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594311	0.66219	2.27E-4	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	2.94	0.34122	Molybdopterin binding (4);	0.118328	0.56097	N	0.000029	T	0.55609	0.1931	M	0.71036	2.16	0.47214	D	0.999354	D;B	0.76494	0.999;0.109	D;B	0.64877	0.93;0.016	T	0.60214	-0.7307	9	0.59425	D	0.04	-14.8284	3.0349	0.06118	0.1217:0.5542:0.1184:0.2057	.	228;129	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	C	228;131;131;129;228;129	.	ENSP00000292180:R228C	R	+	1	0	FLAD1	153227514	0.951000	0.32395	1.000000	0.80357	0.885000	0.51271	1.567000	0.36407	0.823000	0.34589	-0.369000	0.07265	CGC		0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		8	467	0	0	0	1	0	8	467					T	154960890	C	T	154960890	3	4	79	1	0	0	0	0	1	0	0	0	5945	652	23	1	763	1	FLAD1	1	154960890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28639	154960890	94289731	1170	11487											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccaagacaagctggtgCgcaaacgccgctcccagatg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	338					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAGCTGGTGCGCAAACGCCG	0.607																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1012-1014)Cgc>Tgc		zinc finger and BTB domain containing 7B							45	46	46					1																	154988148		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988148C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1012C>T	1.37:g.154988148C>T	ENSP00000357411:p.Arg338Cys					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	p.R338C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1149	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		338					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1012C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521512	0.64747	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.11063	2.84;2.84;2.81;2.84	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.29908	0.895	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.01626	-1.1309	10	0.87932	D	0	.	9.1092	0.36716	0.2183:0.7817:0.0:0.0	.	338;338;372	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	338;338;372;338	ENSP00000438647:R338C;ENSP00000357411:R338C;ENSP00000406286:R372C;ENSP00000292176:R338C	ENSP00000292176:R338C	R	+	1	0	ZBTB7B	153254772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.168000	0.31859	2.109000	0.64355	0.462000	0.41574	CGC		0.607	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		90	230	0	0	0	1	0	90	230					T	154988148	C	T	154988148	3	4	79	1	0	0	0	0	1	0	0	0	17607	768	27	1	1014	1	ZBTB7B	1	154988148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27258	154988148	94262473	1171	11488											
DCST2	127579	broad.mit.edu	37	chr1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggttagagacaccaacAcaggacctggcacaaagaca	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	450						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGACACCAACACAGGACCTGG	0.502																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1348-1350)gTg>gCg		DC-STAMP domain containing 2							73	71	71					1																	154999185		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154999185A>G	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1349T>C	1.37:g.154999185A>G	ENSP00000357409:p.Val450Ala					DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	1407	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		450					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1349T>C	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521824	0.27211	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27720	1.65;1.65	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.089835	0.42821	D	0.000654	T	0.13114	0.0318	L	0.36672	1.1	0.31072	N	0.712902	D	0.57571	0.98	P	0.49752	0.621	T	0.02156	-1.1204	10	0.06236	T	0.91	-27.98	11.9283	0.52833	1.0:0.0:0.0:0.0	.	450	Q5T1A1	DCST2_HUMAN	A	450	ENSP00000357409:V450A;ENSP00000295536:V450A	ENSP00000295536:V450A	V	-	2	0	DCST2	153265809	0.708000	0.27876	0.385000	0.26158	0.919000	0.55068	3.395000	0.52558	1.803000	0.52742	0.402000	0.26972	GTG		0.502	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		41	263	0	0	0	1	0	41	263					G	154999185	A	G	154999185	3	3	79	1	0	0	0	0	1	0	0	0	4314	159	6	4	1000	4	DCST2	1	154999185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11037	154999185	94251436	1172	11489											
DCST1	149095	broad.mit.edu	37	chr1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctattgaagaaaagagcaGccttcaccaaactcaggagg	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	604						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAAAGAGCAGCCTTCACCAA	0.572																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1810-1812)Gcc>Acc		DC-STAMP domain containing 1							72	72	72					1																	155020587		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155020587G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1810G>A	1.37:g.155020587G>A	ENSP00000295542:p.Ala604Thr					DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000392480.1_Missense_Mutation_p.A604T	p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		16	1906	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		604					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1810G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657818	0.67586	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.21543	2.0;2.02;2.0;2.02	4.8	4.8	0.61643	.	0.593582	0.16979	N	0.191770	T	0.08133	0.0203	L	0.43923	1.385	0.32777	N	0.502987	P;P	0.36733	0.567;0.567	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.13470	T	0.59	-25.4752	15.3669	0.74529	0.0:0.0:1.0:0.0	.	579;604	E9PHV3;Q5T197	.;DCST1_HUMAN	T	604;604;579;604	ENSP00000295542:A604T;ENSP00000376271:A604T;ENSP00000387369:A579T;ENSP00000357404:A604T	ENSP00000295542:A604T	A	+	1	0	DCST1	153287211	0.943000	0.32029	0.997000	0.53966	0.853000	0.48598	2.215000	0.42862	2.481000	0.83766	0.586000	0.80456	GCC		0.572	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		66	171	0	0	0	1	0	66	171					A	155020587	G	A	155020587	3	1	79	1	0	0	0	0	1	0	0	0	4313	971	34	2	1868	2	DCST1	1	155020587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21402	155020587	94230034	1173	11490											
ADAM15	8751	broad.mit.edu	37	chr1	155028286	155028286	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcgggatgtggtaacagaGaccaagactgtggagttggt	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368412.3_Silent_p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	211					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTAACAGAGACCAAGACTG	0.592																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(631-633)gaG>gaA		ADAM metallopeptidase domain 15							176	159	164					1																	155028286		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155028286G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.633G>A	1.37:g.155028286G>A						ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000355956.2_Silent_p.E211E	p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	734	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		211					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.633G>A	CCDS1087.1																																																																																				0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	564	0	0	0	1	0	13	564					A	155028286	G	A	155028286	2	1	79	1	0	0	0	0	0	0	0	1	237	933	33	2		2	ADAM15	1	155028286	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7699	155028286	94222335	1174	11491											
EFNA1	1942	broad.mit.edu	37	chr1	155104109	155104109	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacacagctactactacatCtgtgagtgcctgtgagggga	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Splice_Site_p.I129I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	129	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.e2+1		ephrin-A1							49	44	46					1																	155104109		2203	4300	6503	SO:0001630	splice_region_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155104109C>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.388+1C>A	1.37:g.155104109C>A						EFNA1_ENST00000368406.2_Splice_Site_p.I129_splice|EFNA1_ENST00000469878.1_3'UTR	p.I129_splice	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	905	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		129					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Splice_Site	SNP	ENST00000368407.3	37	c.388_splice	CCDS1091.1																																																																																				0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428	Silent	53	151	1	0	3.28156e-27	1	3.79657e-27	53	151					A	155104109	C	A	155104109	5	1	79	1	0	0	0	0	0	0	1	0	4966	927	32	3	393	3	EFNA1	1	155104109	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75823	155104109	94146512	1175	11492											
RAG1AP1	55974	broad.mit.edu	37	chr1	155108449	155108449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgtggtcttcacccttgGcatgttctccgccggcctgt	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155108449G>A	ENST00000368404.4	+	1	124	c.62G>A	c.(61-63)gGc>gAc	p.G21D	SLC50A1_ENST00000303343.8_Missense_Mutation_p.G21D|SLC50A1_ENST00000368401.5_Nonsense_Mutation_p.W7*|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	21	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TTCACCCTTGGCATGTTCTCC	0.652																																						ENST00000368401.5																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(19-21)tgG>tgA		solute carrier family 50 (sugar efflux transporter), member 1							34	31	32					1																	155108449		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155108449G>A	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.62G>A	1.37:g.155108449G>A	ENSP00000357389:p.Gly21Asp					SLC50A1_ENST00000368404.4_Missense_Mutation_p.G21D|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.G21D|SLC50A1_ENST00000484157.1_Intron	p.W7*	NM_001122837.1	NP_001116309.1	Q9BRV3	SWET1_HUMAN			1	116	+			0					Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Nonsense_Mutation	SNP	ENST00000368404.4	37	c.21G>A	CCDS1093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.472317|5.472317	0.96274|0.96274	.|.	.|.	ENSG00000169241|ENSG00000169241	ENST00000303343;ENST00000368404|ENST00000368401	.|.	.|.	.|.	4.85|4.85	1.56|1.56	0.23342|0.23342	.|.	0.206494|.	0.40064|.	N|.	0.001183|.	T|.	0.26666|.	0.0652|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B;B|.	0.25272|.	0.122;0.024|.	B;B|.	0.28784|.	0.094;0.041|.	T|.	0.08146|.	-1.0736|.	7|.	0.35671|0.16420	T|T	0.21|0.52	-0.6989|-0.6989	12.2061|12.2061	0.54353|0.54353	0.0:0.5144:0.4856:0.0|0.0:0.5144:0.4856:0.0	.|.	21;21|.	Q9BRV3-3;Q9BRV3|.	.;SWET1_HUMAN|.	D|X	21|7	.|.	ENSP00000306146:G21D|ENSP00000357386:W7X	G|W	+|+	2|3	0|0	SLC50A1|SLC50A1	153375073|153375073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.379000|1.379000	0.34340|0.34340	0.521000|0.521000	0.28445|0.28445	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.652	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		10	174	0	0	0	1	0	10	174					A	155108449	G	A	155108449	3	1	79	1	0	0	0	0	1	0	0	0	13054	1212	42	2	64	2	RAG1AP1	1	155108449	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4340	155108449	94142172	1176	11493											
RAG1AP1	55974	broad.mit.edu	37	chr1	155110570	155110570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgactcagagatccctataTcatggtaagcacaactggga	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155110570T>G	ENST00000368404.4	+	5	622	c.560T>G	c.(559-561)aTc>aGc	p.I187S	SLC50A1_ENST00000303343.8_Missense_Mutation_p.I133S|SLC50A1_ENST00000368401.5_Missense_Mutation_p.I132S|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Missense_Mutation_p.I122S	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	187	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						GATCCCTATATCATGGTAAGC	0.498																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(559-561)aTc>aGc		solute carrier family 50 (sugar efflux transporter), member 1							152	138	143					1																	155110570		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110570T>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.560T>G	1.37:g.155110570T>G	ENSP00000357389:p.Ile187Ser					SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.I133S|SLC50A1_ENST00000484157.1_Missense_Mutation_p.I122S|SLC50A1_ENST00000368401.5_Missense_Mutation_p.I132S	p.I187S	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	622	+			187			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.560T>G	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101238	0.76983	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	3.84	0.44239	.	0.048105	0.85682	D	0.000000	T	0.81607	0.4858	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.996;0.997	D	0.84809	0.0789	9	0.87932	D	0	-34.257	9.1452	0.36928	0.0:0.0874:0.0:0.9126	.	133;132;187	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	S	122;133;187;132	.	ENSP00000306146:I133S	I	+	2	0	SLC50A1	153377194	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.204000	0.72143	1.020000	0.39573	0.533000	0.62120	ATC		0.498	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		20	418	0	0	0	1	0	20	418					G	155110570	T	G	155110570	3	3	79	1	0	0	0	0	1	0	0	0	13054	1435	50	4	578	4	RAG1AP1	1	155110570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2121	155110570	94140051	1177	11494											
DPM3	54344	broad.mit.edu	37	chr1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcgcagccccctgcggGctaagtcggctcgggcctcc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000341298.3	-	2	392	c.257C>T	c.(256-258)gCc>gTc	p.A86V	DPM3_ENST00000368399.1_Missense_Mutation_p.A116V|DPM3_ENST00000368400.4_Missense_Mutation_p.A86V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	86					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587																																						ENST00000368399.1																			0				endometrium(2)	2						c.(346-348)gCc>gTc		dolichyl-phosphate mannosyltransferase polypeptide 3							54	60	58					1																	155112460		2203	4300	6503	SO:0001583	missense	54344				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding	g.chr1:155112460G>A	AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.257C>T	1.37:g.155112460G>A	ENSP00000344338:p.Ala86Val					DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000341298.3_Missense_Mutation_p.A86V	p.A116V	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	423	-	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		86					Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Missense_Mutation	SNP	ENST00000341298.3	37	c.347C>T	CCDS1095.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569405	0.45798	.	.	ENSG00000179085	ENST00000368399;ENST00000368400;ENST00000341298	T;T;T	0.77489	-1.1;-1.1;-1.1	4.8	2.93	0.34026	.	0.496026	0.21280	N	0.077179	T	0.64472	0.2601	L	0.50333	1.59	0.32035	N	0.598941	B;D	0.53312	0.062;0.959	B;P	0.49922	0.081;0.626	T	0.60352	-0.7280	10	0.39692	T	0.17	0.0123	8.8551	0.35223	0.1834:0.0:0.8166:0.0	.	86;162	Q9P2X0;B4DEH1	DPM3_HUMAN;.	V	116;86;86	ENSP00000357384:A116V;ENSP00000357385:A86V;ENSP00000344338:A86V	ENSP00000344338:A86V	A	-	2	0	DPM3	153379084	0.241000	0.23857	0.840000	0.33206	0.821000	0.46438	0.524000	0.22940	0.635000	0.30488	-0.140000	0.14226	GCC		0.587	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	NM_153741		119	458	0	0	0	1	0	119	458					A	155112460	G	A	155112460	3	1	79	1	0	0	0	0	1	0	0	0	4742	1203	42	2	25	2	DPM3	1	155112460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1890	155112460	94138161	1178	11495											
TRIM46	80128	broad.mit.edu	37	chr1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccccgcctctcccGcagaactctccccaagccag	7	23	2	1	rs373079383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000334634.4	+	2	278	c.278G>A	c.(277-279)cGc>cAc	p.R93H	TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|KRTCAP2_ENST00000490672.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(277-279)cGc>cAc		tripartite motif containing 46		G	HIS/ARG	0,4354		0,0,2177	33	39	37		278	4.5	1	1		37	1,8505		0,1,4252	no	missense	TRIM46	NM_025058.3	29	0,1,6429	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	93/760	155148076	1,12859	2177	4253	6430	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148076G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.278G>A	1.37:g.155148076G>A	ENSP00000334657:p.Arg93His					TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R93H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H	p.R93H			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	361	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		93					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.278G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183414	0.78677	0.0	1.18E-4	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60548	0.75;0.49;0.68;0.43;0.18;0.23	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.70275	2.135	0.80722	D	1	D;D;P;B;D;D	0.89917	0.999;1.0;0.946;0.403;1.0;1.0	D;D;B;B;D;D	0.85130	0.991;0.991;0.347;0.025;0.991;0.997	T	0.69308	-0.5179	10	0.44086	T	0.13	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	80;93;80;70;93;93	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	100;80;93;93;93;70;93	ENSP00000442719:R100H;ENSP00000357369:R93H;ENSP00000376245:R93H;ENSP00000357367:R93H;ENSP00000357366:R70H;ENSP00000334657:R93H	ENSP00000334657:R93H	R	+	2	0	TRIM46	153414700	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.694000	0.68272	2.227000	0.72691	0.655000	0.94253	CGC		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		83	460	0	0	0	1	0	83	460					A	155148076	G	A	155148076	3	1	79	1	0	0	0	0	1	0	0	0	16574	1087	38	1	284	1	TRIM46	1	155148076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35616	155148076	94102545	1179	11496											
TRIM46	80128	broad.mit.edu	37	chr1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtggatgtggtcctgggcGacgtggctgtgacccagggc	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000334634.4	+	9	1750	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	TRIM46_ENST00000368382.1_Missense_Mutation_p.D561N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	584	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCCTGGGCGACGTGGCTGT	0.667																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1681-1683)Gac>Aac		tripartite motif containing 46							23	23	23					1																	155154489		2203	4299	6502	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155154489G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1750G>A	1.37:g.155154489G>A	ENSP00000334657:p.Asp584Asn					TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.D584N	p.D561N	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1818	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		584			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1681G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875559	0.72180	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61040	0.14;2.54;0.14;0.14	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.072502	0.53938	D	0.000049	T	0.60353	0.2262	L	0.53249	1.67	0.49483	D	0.999795	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55528	-0.8127	10	0.20519	T	0.43	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	584;584	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	N	542;458;584;561;584	ENSP00000440254:D458N;ENSP00000357367:D584N;ENSP00000357366:D561N;ENSP00000334657:D584N	ENSP00000334657:D584N	D	+	1	0	TRIM46	153421113	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.851000	0.92205	2.285000	0.76669	0.561000	0.74099	GAC		0.667	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	191	0	0	0	1	0	13	191					A	155154489	G	A	155154489	3	1	79	1	0	0	0	0	1	0	0	0	16574	1058	37	1	1784	1	TRIM46	1	155154489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6413	155154489	94096132	1180	11497											
MUC1	4582	broad.mit.edu	37	chr1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatattggagaggcccagaaAacccccttgtttataaatct	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532			T	IGH@	B-NHL																																	ENST00000368395.1				Dom	yes		1	1q21	4582	T	"mucin 1, transmembrane"			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(916-918)Ttt>Att		mucin 1, cell surface associated							101	116	111					1																	155160512		2203	4300	6503	SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160512A>T	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"CD molecules", "Mucins"	7508	protein-coding gene	gene with protein product		158340	"mucin 1, transmembrane", "medullary cystic kidney disease 1 (autosomal dominant)"	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.916T>A	1.37:g.155160512A>T	ENSP00000357380:p.Phe306Ile					MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000368396.4_Intron	p.F306I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	987	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1086			42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.916T>A	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013268	0.75161	.	.	ENSG00000185499	ENST00000368395;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.33	4.33	0.51752	.	0.000000	0.36932	N	0.002340	T	0.53610	0.1807	M	0.75264	2.295	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;B;P;B;D;D;D;D;B;P	0.71674	0.991;0.982;0.992;0.984;0.983;0.998;0.996;0.993;0.975;0.959;0.273;0.053;0.871;0.094;0.997;0.979;0.987;0.994;0.005;0.845	P;P;P;P;D;D;D;D;P;P;B;B;P;B;D;P;P;P;B;D	0.74023	0.854;0.819;0.865;0.786;0.945;0.982;0.959;0.942;0.882;0.755;0.16;0.16;0.622;0.226;0.917;0.87;0.864;0.89;0.025;0.931	T	0.50329	-0.8841	10	0.72032	D	0.01	-12.3831	9.9079	0.41388	1.0:0.0:0.0:0.0	.	1095;86;1083;104;1074;113;392;392;306;113;72;69;74;48;95;104;104;95;60;86	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;B1AVR0;Q0VAP5;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	306;95;60;95;104;392;86;104	ENSP00000357380:F306I;ENSP00000357377:F95I;ENSP00000389098:F60I;ENSP00000388172:F95I;ENSP00000357378:F104I;ENSP00000357375:F86I;ENSP00000338983:F104I	ENSP00000338983:F104I	F	-	1	0	MUC1	153427136	0.001000	0.12720	0.059000	0.19551	0.222000	0.24845	0.840000	0.27600	1.606000	0.50161	0.383000	0.25322	TTT		0.532	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		218	653	0	0	0	1	0	218	653					T	155160512	A	T	155160512	3	4	79	1	0	0	0	0	1	0	0	0	10011	14	1	5	531	5	MUC1	1	155160512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6023	155160512	94090109	1181	11498											
CLK2	1196	broad.mit.edu	37	chr1	155234050	155234050	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgggaagggataggacccaaGatcctttccatcatggctag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000361168.5_Silent_p.I395I|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000302631.3_5'Flank|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000536801.1_Silent_p.I396I			P49760	CLK2_HUMAN	CDC-like kinase 2	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGACCCAAGATCCTTTCCA	0.468								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1186-1188)atC>atT	Other conserved DNA damage response genes	CDC-like kinase 2							114	106	109					1																	155234050		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234050G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1188C>T	1.37:g.155234050G>A						CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.I395I	p.I396I			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1503	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		396			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.1188C>T																																																																																					0.468	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		60	316	0	0	0	1	0	60	316					A	155234050	G	A	155234050	2	1	79	1	0	0	0	0	0	0	0	1	3546	932	33	2		2	CLK2	1	155234050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73538	155234050	94016571	1182	11499											
CLK2	1196	broad.mit.edu	37	chr1	155236524	155236524	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccaccccactcacacttGacagcctggcacagctggaa	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.V278V			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTCACACTTGACAGCCTGGC	0.572								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(832-834)gtC>gtT	Other conserved DNA damage response genes	CDC-like kinase 2							86	78	81					1																	155236524		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155236524G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.834C>T	1.37:g.155236524G>A						CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V277V	p.V278V			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1149	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		278			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.834C>T																																																																																					0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		53	147	0	0	0	1	0	53	147					A	155236524	G	A	155236524	2	1	79	1	0	0	0	0	0	0	0	1	3546	1277	45	2		2	CLK2	1	155236524	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2474	155236524	94014097	1183	11500											
PKLR	5313	broad.mit.edu	37	chr1	155264395	155264395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggaggcaaagacgatGtccaccccatgctccacccc	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000342741.4	-	6	881	c.843C>T	c.(841-843)gaC>gaT	p.D281D	PKLR_ENST00000392414.3_Silent_p.D250D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	281			D -> N (in PKRD).		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)			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)	CAAAGACGATGTCCACCCCAT	0.637																																						ENST00000392414.3																			0				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						c.(748-750)gaC>gaT		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						83	75	78					1																	155264395		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.chr1:155264395G>A	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.843C>T	1.37:g.155264395G>A						PKLR_ENST00000342741.4_Silent_p.D281D	p.D250D	NM_181871.3	NP_870986.1	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	863	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		281					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.750C>T	CCDS1109.1																																																																																				0.637	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		29	326	0	0	0	1	0	29	326					A	155264395	G	A	155264395	2	1	79	1	0	0	0	0	0	0	0	1	12018	1368	48	2		2	PKLR	1	155264395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27871	155264395	93986226	1184	11501											
PKLR	5313	broad.mit.edu	37	chr1	155265358	155265358	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatggactcagcatggTactgggggagggagcggagc	20	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000342741.4	-	4	415	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	PKLR_ENST00000392414.3_Splice_Site_p.Y95C	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	126					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)			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)	CTCAGCATGGTACTGGGGGAG	0.692																																						ENST00000392414.3																			0				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						c.e4-1		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						37	36	36					1																	155265358		2203	4300	6503	SO:0001630	splice_region_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.chr1:155265358T>C	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.376-1A>G	1.37:g.155265358T>C						PKLR_ENST00000342741.4_Splice_Site_p.Y126_splice	p.Y95_splice	NM_181871.3	NP_870986.1	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)		4	397	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		126		G -> R (in PKRD).			O75758|P11973	Splice_Site	SNP	ENST00000342741.4	37	c.282_splice	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868150	0.72065	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99445	-5.91;-5.91	4.25	4.25	0.50352	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.065304	0.64402	D	0.000005	D	0.99576	0.9847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	-15.2275	11.6206	0.51115	0.0:0.0:0.0:1.0	.	126;117	P30613;B1AVT1	KPYR_HUMAN;.	C	151;95;126;62	ENSP00000376214:Y95C;ENSP00000339933:Y126C	ENSP00000271946:Y62C	Y	-	2	0	PKLR	153531982	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.650000	0.83521	1.907000	0.55213	0.528000	0.53228	TAC		0.692	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	Missense_Mutation	21	194	0	0	0	1	0	21	194					C	155265358	T	C	155265358	5	2	79	1	0	0	0	0	0	0	1	0	12018	1652	57	4	1379	4	PKLR	1	155265358	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	963	155265358	93985263	1185	11502											
FDPS	2224	broad.mit.edu	37	chr1	155289473	155289473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagatgggggagttctttcaGattcaggtaagaaggcagga	16	4	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	306					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552																																						ENST00000356657.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(916-918)caG>caA		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						81	82	82					1																	155289473		2203	4300	6503	SO:0001819	synonymous_variant	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155289473G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.918G>A	1.37:g.155289473G>A						FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	p.Q306Q	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	1080	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		306					D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	c.918G>A	CCDS1110.1																																																																																				0.552	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		98	435	0	0	0	1	0	98	435					A	155289473	G	A	155289473	2	1	79	1	0	0	0	0	0	0	0	1	5828	933	33	2		2	FDPS	1	155289473	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24115	155289473	93961148	1186	11503											
RUSC1	23623	broad.mit.edu	37	chr1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatctagctggctgccccCgacagtgagtgtgttggctc	12	13	1	1	rs376498049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	813					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGCTGCCCCCGACAGTGAGT	0.582																																						ENST00000368352.5																			6	Substitution - Missense(6)	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)	lung(3)|kidney(3)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2437-2439)cCg>cTg		RUN and SH3 domain containing 1		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	153	158	156		2438,2120,1208,1031	5.2	1	1		156	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RUSC1	NM_001105203.1,NM_001105204.1,NM_001105205.1,NM_014328.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	813/903,707/797,403/493,344/434	155297964	1,13005	2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155297964C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2438C>T	1.37:g.155297964C>T	ENSP00000357336:p.Pro813Leu					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L	p.P813L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	2589	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		813					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2438C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317388	0.10845	0.0	1.16E-4	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29655	2.05;1.99;1.56;1.6;1.6	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000037	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	D;D;D;P;P;D	0.71674	0.997;0.998;0.992;0.937;0.46;0.984	P;P;P;B;B;B	0.60117	0.742;0.869;0.619;0.267;0.234;0.327	T	0.01071	-1.1461	10	0.17832	T	0.49	-16.3888	14.3078	0.66395	0.0:1.0:0.0:0.0	.	311;344;238;403;312;813	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	707;813;403;344;344	ENSP00000357338:P707L;ENSP00000357336:P813L;ENSP00000357331:P403L;ENSP00000357333:P344L;ENSP00000292254:P344L	ENSP00000292254:P344L	P	+	2	0	RUSC1	153564588	0.916000	0.31088	0.991000	0.47740	0.524000	0.34500	3.985000	0.56930	2.837000	0.97791	0.591000	0.81541	CCG		0.582	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			360	1002	0	0	0	1	0	360	1002					T	155297964	C	T	155297964	3	4	79	1	0	0	0	0	1	0	0	0	13800	652	23	1	2599	1	RUSC1	1	155297964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8491	155297964	93952657	1187	11504											
RUSC1	23623	broad.mit.edu	37	chr1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccgctgtgggcgggatgGcatggagggtctggtgcctg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	888	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCGGGATGGCATGGAGGGT	0.592																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2662-2664)gGc>gTc		RUN and SH3 domain containing 1							191	115	141					1																	155300316		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300316G>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2663G>T	1.37:g.155300316G>T	ENSP00000357336:p.Gly888Val					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V	p.G888V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	2814	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		888			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2663G>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504510	0.64410	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.55	4.55	0.56014	Src homology-3 domain (4);	0.296833	0.24041	N	0.042097	T	0.77994	0.4214	M	0.93978	3.48	0.50467	D	0.999876	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.99;0.998	D;D;D;D;D;D;D	0.91635	0.969;0.948;0.969;0.999;0.962;0.948;0.957	T	0.81660	-0.0832	10	0.87932	D	0	-16.1287	7.2762	0.26286	0.1519:0.0:0.8481:0.0	.	386;419;419;313;478;387;888	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	V	782;888;478;419;419	ENSP00000357338:G782V;ENSP00000357336:G888V;ENSP00000357331:G478V;ENSP00000357333:G419V;ENSP00000292254:G419V	ENSP00000292254:G419V	G	+	2	0	RUSC1	153566940	0.831000	0.29352	0.943000	0.38184	0.942000	0.58702	2.686000	0.46968	2.518000	0.84900	0.467000	0.42956	GGC		0.592	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			29	170	1	0	2.25844e-05	1	2.3098e-05	29	170					T	155300316	G	T	155300316	3	4	79	1	0	0	0	0	1	0	0	0	13800	1203	42	3	2828	3	RUSC1	1	155300316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	155300316	93950305	1188	11505											
ASH1L	55870	broad.mit.edu	37	chr1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaggtccccactacaGcctccaagggaatgatctca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2754	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCCCACTACAGCCTCCAAGGG	0.478																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8260-8262)gCt>gAt		ash1 (absent, small, or homeotic)-like (Drosophila)							108	105	106					1																	155313152		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313152G>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8261C>A	1.37:g.155313152G>T	ENSP00000357330:p.Ala2754Asp					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D	p.A2754D			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		24	8900	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2754			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8261C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.176866	0.94846	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86164	-2.08;-2.08	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89183	0.3545	10	0.56958	D	0.05	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2754;2749	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	2754;2749	ENSP00000357330:A2754D;ENSP00000376204:A2749D	ENSP00000357330:A2754D	A	-	2	0	ASH1L	153579776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.623000	0.98386	2.757000	0.94681	0.561000	0.74099	GCT		0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		66	373	1	0	7.59065e-32	1	8.94676e-32	66	373					T	155313152	G	T	155313152	3	4	79	1	0	0	0	0	1	0	0	0	1042	971	34	3	668	3	ASH1L	1	155313152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12836	155313152	93937469	1189	11506											
ASH1L	55870	broad.mit.edu	37	chr1	155348095	155348095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggcagtcatcaacacaGcccttcctggtgtcatcatc	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2108	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.|Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCAACACAGCCCTTCCTGG	0.423																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6322-6324)ggC>ggT		ash1 (absent, small, or homeotic)-like (Drosophila)							219	212	214					1																	155348095		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155348095G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6324C>T	1.37:g.155348095G>A						ASH1L_ENST00000392403.3_Silent_p.G2103G	p.G2108G			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		10	6963	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2108			AWS.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.6324C>T																																																																																					0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		234	785	0	0	0	1	0	234	785					A	155348095	G	A	155348095	2	1	79	1	0	0	0	0	0	0	0	1	1042	958	34	2		2	ASH1L	1	155348095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34943	155348095	93902526	1190	11507											
ASH1L	55870	broad.mit.edu	37	chr1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggaacagctgcttgtcaActtttcagataggagtgaga	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1786	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCTTGTCAACTTTTCAGAT	0.473																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5356-5358)Ttg>Gtg		ash1 (absent, small, or homeotic)-like (Drosophila)							110	105	107					1																	155408590		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408590A>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5356T>G	1.37:g.155408590A>C	ENSP00000357330:p.Leu1786Val					ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V	p.L1786V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	5995	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1786			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5356T>G		.	.	.	.	.	.	.	.	.	.	A	13.55	2.271183	0.40194	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	5.04	5.04	0.67666	.	0.308755	0.23714	N	0.045287	T	0.66616	0.2807	N	0.14661	0.345	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.18871	0.01;0.023	T	0.65043	-0.6264	10	0.24483	T	0.36	.	9.4335	0.38624	0.9199:0.0:0.0801:0.0	.	1786;1786	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1786	ENSP00000357330:L1786V;ENSP00000376204:L1786V	ENSP00000357330:L1786V	L	-	1	2	ASH1L	153675214	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.828000	0.39111	2.253000	0.74438	0.533000	0.62120	TTG		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		123	555	0	0	0	1	0	123	555					C	155408590	A	C	155408590	3	2	79	1	0	0	0	0	1	0	0	0	1042	40	2	4	3634	4	ASH1L	1	155408590	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60495	155408590	93842031	1191	11508											
ASH1L	55870	broad.mit.edu	37	chr1	155451439	155451439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaaggacaactcattaGtttctttccaatgtccttat	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L408L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	408					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAACTCATTAGTTTCTTTCCA	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(1222-1224)Cta>Tta		ash1 (absent, small, or homeotic)-like (Drosophila)							115	111	112					1																	155451439		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451439G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1222C>T	1.37:g.155451439G>A						ASH1L_ENST00000392403.3_Silent_p.L408L|ASH1L_ENST00000548830.1_3'UTR	p.L408L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1861	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		408					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.1222C>T																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		194	480	0	0	0	1	0	194	480					A	155451439	G	A	155451439	2	1	79	1	0	0	0	0	0	0	0	1	1042	1020	36	2		2	ASH1L	1	155451439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42849	155451439	93799182	1192	11509											
ASH1L	55870	broad.mit.edu	37	chr1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcccagcttcgatgtttCtttctcgattccgtttgcga	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K|ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	56					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGTTTCTTTCTCGATT	0.398																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(166-168)aGa>aAa		ash1 (absent, small, or homeotic)-like (Drosophila)							310	311	310					1																	155491144		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491144C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.167G>A	1.37:g.155491144C>T	ENSP00000357330:p.Arg56Lys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K	p.R56K			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	806	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		56					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.167G>A		.	.	.	.	.	.	.	.	.	.	C	17.24	3.338689	0.60963	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.87491	-2.26;-2.26	6.03	5.13	0.70059	.	0.384283	0.27996	N	0.017004	T	0.49712	0.1573	N	0.08118	0	0.26744	N	0.970322	B;B	0.13145	0.004;0.007	B;B	0.16289	0.007;0.015	T	0.32824	-0.9892	10	0.05721	T	0.95	.	9.9335	0.41537	0.1377:0.7926:0.0:0.0697	.	56;56	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	56	ENSP00000357330:R56K;ENSP00000376204:R56K	ENSP00000357330:R56K	R	-	2	0	ASH1L	153757768	1.000000	0.71417	0.861000	0.33841	0.862000	0.49288	4.288000	0.59007	1.567000	0.49668	0.557000	0.71058	AGA		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		373	1730	0	0	0	1	0	373	1730					T	155491144	C	T	155491144	3	4	79	1	0	0	0	0	1	0	0	0	1042	913	32	2	8835	2	ASH1L	1	155491144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39705	155491144	93759477	1193	11510											
MSTO1	55154	broad.mit.edu	37	chr1	155581999	155581999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcctgtgtgacctgcaCgatggcttctctggggtagg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	235					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(703-705)caC>caT		misato 1, mitochondrial distribution and morphology regulator							40	44	43					1																	155581999		2201	4300	6501	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155581999C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.705C>T	1.37:g.155581999C>T						MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.H235H	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	729	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		235					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.705C>T	CCDS1114.1																																																																																				0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		52	269	0	0	0	1	0	52	269					T	155581999	C	T	155581999	2	4	79	1	0	0	0	0	0	0	0	1	9935	535	19	1		1	MSTO1	1	155581999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90855	155581999	93668622	1194	11511											
MSTO1	55154	broad.mit.edu	37	chr1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtaggcgcgaaggcgGcagagctgctacaagatgaa	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	246					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(736-738)Gca>Aca		misato 1, mitochondrial distribution and morphology regulator							39	44	43					1																	155582030		2203	4298	6501	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582030G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.736G>A	1.37:g.155582030G>A	ENSP00000245564:p.Ala246Thr					MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.A246T	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	760	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		246					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.736G>A	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	3.950	-0.012399	0.07727	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.41758	0.99;0.99	3.17	-2.59	0.06209	Tubulin/FtsZ, GTPase domain (3);	0.261190	0.37178	N	0.002219	T	0.05410	0.0143	N	0.02412	-0.56	0.47584	D	0.999463	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.0;0.002;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.01;0.004;0.002;0.004;0.01;0.002;0.002;0.002	T	0.17623	-1.0363	10	0.48119	T	0.1	.	4.7492	0.13052	0.4891:0.0:0.3635:0.1474	.	191;246;211;246;68;246;246;246	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	T	246;211	ENSP00000245564:A246T;ENSP00000357325:A211T	ENSP00000245564:A246T	A	+	1	0	MSTO1	153848654	0.425000	0.25498	0.009000	0.14445	0.553000	0.35397	1.231000	0.32624	-0.444000	0.07170	0.313000	0.20887	GCA		0.542	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		93	257	0	0	0	1	0	93	257					A	155582030	G	A	155582030	3	1	79	1	0	0	0	0	1	0	0	0	9935	1203	42	2	766	2	MSTO1	1	155582030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	155582030	93668591	1195	11512											
MSTO1	55154	broad.mit.edu	37	chr1	155582081	155582081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaataataacctggggcCtgctacctggtccctaccat	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	263					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(787-789)Ctg>Ttg		misato 1, mitochondrial distribution and morphology regulator							52	57	55					1																	155582081		2203	4300	6503	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582081C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.787C>T	1.37:g.155582081C>T						MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.L263L	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	811	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		263					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.787C>T	CCDS1114.1																																																																																				0.552	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		74	343	0	0	0	1	0	74	343					T	155582081	C	T	155582081	2	4	79	1	0	0	0	0	0	0	0	1	9935	680	24	2		2	MSTO1	1	155582081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	155582081	93668540	1196	11513											
YY1AP1	55249	broad.mit.edu	37	chr1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaggttccatcttgaCaacttcctctaaatccccag	4	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000295566.4	-	11	2364	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I	YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	781					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCATCTTGACAACTTCCTCT	0.512																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(2557-2559)Gtc>Atc		YY1 associated protein 1							120	128	125					1																	155629498		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629498C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2341G>A	1.37:g.155629498C>T	ENSP00000295566:p.Val781Ile					YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.V781I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I	p.V853I	NM_001198904.1	NP_001185833.1					10	2665	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2557G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084995	0.55861	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.32;1.32;1.39;1.32;1.32;1.3;1.34;1.32;1.39;1.39;1.24;1.4	2.57	2.57	0.30868	.	0.276715	0.30752	N	0.008956	T	0.42966	0.1226	M	0.62723	1.935	0.80722	D	1	B;D;P;D;D	0.69078	0.4;0.996;0.65;0.997;0.996	B;D;P;D;D	0.78314	0.257;0.987;0.558;0.991;0.987	T	0.43048	-0.9415	10	0.62326	D	0.03	.	10.1575	0.42831	0.0:1.0:0.0:0.0	.	873;715;781;735;853	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	724;735;704;735;724;853;781;735;704;715;873;581	ENSP00000352134:V724I;ENSP00000347686:V735I;ENSP00000311138:V704I;ENSP00000316079:V735I;ENSP00000355298:V724I;ENSP00000357324:V853I;ENSP00000295566:V781I;ENSP00000357314:V735I;ENSP00000385791:V704I;ENSP00000385390:V715I;ENSP00000357323:V873I;ENSP00000437926:V581I	ENSP00000295566:V781I	V	-	1	0	YY1AP1	153896122	0.411000	0.25384	0.565000	0.28409	0.057000	0.15508	1.943000	0.40253	1.424000	0.47217	0.313000	0.20887	GTC		0.512	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		114	710	0	0	0	1	0	114	710					T	155629498	C	T	155629498	3	4	79	1	0	0	0	0	1	0	0	0	17562	478	17	2	53	2	YY1AP1	1	155629498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47417	155629498	93621123	1197	11514											
YY1AP1	55249	broad.mit.edu	37	chr1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtggctggctgtattgGgtgaggaatccggagcacca	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000295566.4	-	11	1518	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	499					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGCTGTATTGGGTGAGGAATC	0.557																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1711-1713)Cca>Tca		YY1 associated protein 1							43	51	48					1																	155630344		2203	4297	6500	SO:0001583	missense	55249							g.chr1:155630344G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1495C>T	1.37:g.155630344G>A	ENSP00000295566:p.Pro499Ser					YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P499S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S	p.P571S	NM_001198904.1	NP_001185833.1					10	1819	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1711C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494657	0.04322	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	2.53	-1.25	0.09405	.	1.325680	0.04977	N	0.465021	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B	0.34015	0.024;0.01;0.435;0.026;0.07	B;B;B;B;B	0.32465	0.032;0.022;0.146;0.046;0.023	T	0.24512	-1.0158	10	0.66056	D	0.02	.	4.4857	0.11788	0.2871:0.0:0.5222:0.1907	.	591;433;499;453;571	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	442;453;422;453;442;571;499;453;422;433;591;299	ENSP00000352134:P442S;ENSP00000347686:P453S;ENSP00000311138:P422S;ENSP00000316079:P453S;ENSP00000355298:P442S;ENSP00000357324:P571S;ENSP00000295566:P499S;ENSP00000357314:P453S;ENSP00000385791:P422S;ENSP00000385390:P433S;ENSP00000357323:P591S;ENSP00000437926:P299S	ENSP00000295566:P499S	P	-	1	0	YY1AP1	153896968	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.134000	0.10436	-0.477000	0.06832	0.306000	0.20318	CCA		0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		95	413	0	0	0	1	0	95	413					A	155630344	G	A	155630344	3	1	79	1	0	0	0	0	1	0	0	0	17562	1232	43	2	899	2	YY1AP1	1	155630344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846	155630344	93620277	1198	11515											
YY1AP1	55249	broad.mit.edu	37	chr1	155646536	155646536	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggccagtagttcctcaaAcctatcccaaacggggatga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000295566.4	-	5	348	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000535662.1_5'Flank	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	109					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGTTCCTCAAACCTATCCCAA	0.408																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.e4-1		YY1 associated protein 1							131	112	119					1																	155646536		2203	4300	6503	SO:0001630	splice_region_variant	55249							g.chr1:155646536A>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.324-1T>G	1.37:g.155646536A>C						YY1AP1_ENST00000361831.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000368330.2_Splice_Site_p.F43_splice|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Splice_Site_p.F181_splice|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000407221.1_Splice_Site_p.F32_splice|YY1AP1_ENST00000359205.5_Splice_Site_p.F32_splice|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Splice_Site_p.F43_splice|YY1AP1_ENST00000311573.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000295566.4_Splice_Site_p.F109_splice|YY1AP1_ENST00000438245.2_Splice_Site_p.F43_splice|YY1AP1_ENST00000368339.5_Splice_Site_p.F181_splice|YY1AP1_ENST00000355499.4_Splice_Site_p.F43_splice|YY1AP1_ENST00000404643.1_Splice_Site_p.F43_splice	p.F181_splice	NM_001198904.1	NP_001185833.1					4	649	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Splice_Site	SNP	ENST00000295566.4	37	c.539_splice	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417714	0.62622	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.55;1.61;1.59;1.61;1.55;1.52;1.54;1.61;1.59;1.61;1.52	3.78	3.78	0.43462	.	0.216427	0.41823	D	0.000816	T	0.42381	0.1200	M	0.68952	2.095	0.42822	D	0.993996	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.999;0.991;0.998;0.99	T	0.46062	-0.9218	10	0.72032	D	0.01	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	43;109;181;181;109;43;181	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	V	32;43;32;43;32;181;109;43;32;43;181;181;43;32;43	ENSP00000352134:F32V;ENSP00000347686:F43V;ENSP00000311138:F32V;ENSP00000316079:F43V;ENSP00000355298:F32V;ENSP00000357324:F181V;ENSP00000295566:F109V;ENSP00000357314:F43V;ENSP00000385791:F32V;ENSP00000385390:F43V;ENSP00000357323:F181V	ENSP00000295566:F109V	F	-	1	0	YY1AP1	153913160	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT		0.408	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	Missense_Mutation	43	288	0	0	0	1	0	43	288					C	155646536	A	C	155646536	5	2	79	1	0	0	0	0	0	0	1	0	17562	57	2	4	2153	4	YY1AP1	1	155646536	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	155646536	93604085	1199	11516											
GON4L	54856	broad.mit.edu	37	chr1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccggccttttccagcaGctttgatgctctctccttgt	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000368331.1	-	23	4790	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1581					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCAGCAGCTTTGATGCT	0.542																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4741-4743)gCt>gTt		gon-4-like (C. elegans)							60	58	59					1																	155732150		1991	4171	6162	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155732150G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4742C>T	1.37:g.155732150G>A	ENSP00000357315:p.Ala1581Val					GON4L_ENST00000368331.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	p.A1581V			Q3T8J9	GON4L_HUMAN			23	4864	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1581					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4742C>T		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522108	0.64747	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.12672	2.66;2.66;2.66	5.13	3.21	0.36854	.	0.280404	0.31123	N	0.008201	T	0.07954	0.0199	N	0.14661	0.345	0.30708	N	0.74962	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.09143	-1.0688	10	0.59425	D	0.04	.	5.1678	0.15094	0.0779:0.1456:0.6255:0.1509	.	777;1581;1581	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	V	1581	ENSP00000396117:A1581V;ENSP00000357315:A1581V;ENSP00000271883:A1581V	ENSP00000271883:A1581V	A	-	2	0	GON4L	153998774	0.989000	0.36119	0.997000	0.53966	0.690000	0.40134	1.827000	0.39102	0.699000	0.31761	0.305000	0.20034	GCT		0.542	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		40	110	0	0	0	1	0	40	110					A	155732150	G	A	155732150	3	1	79	1	0	0	0	0	1	0	0	0	6601	971	34	2	2020	2	GON4L	1	155732150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85614	155732150	93518471	1200	11517											
GON4L	54856	broad.mit.edu	37	chr1	155733187	155733187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcagagtctccaactgCttcatccgtcatttcatcct	5	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	ENST00000368331.1	-	22	4690	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1548	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCCAACTGCTTCATCCGTC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4642-4644)Gca>Tca		gon-4-like (C. elegans)							50	52	51					1																	155733187		1988	4179	6167	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155733187C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4642G>T	1.37:g.155733187C>A	ENSP00000357315:p.Ala1548Ser					GON4L_ENST00000368331.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	p.A1548S			Q3T8J9	GON4L_HUMAN			22	4764	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1548			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4642G>T		.	.	.	.	.	.	.	.	.	.	C	15.06	2.720281	0.48728	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10382	2.88;2.88;2.88	4.93	1.92	0.25849	.	0.589122	0.16803	N	0.198911	T	0.02533	0.0077	L	0.47716	1.5	0.09310	N	1	P;P;P	0.42296	0.512;0.666;0.775	B;B;B	0.38156	0.15;0.137;0.266	T	0.37820	-0.9689	10	0.10377	T	0.69	.	8.1656	0.31224	0.0:0.7227:0.1293:0.148	.	744;1548;1548	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	S	1548	ENSP00000396117:A1548S;ENSP00000357315:A1548S;ENSP00000271883:A1548S	ENSP00000271883:A1548S	A	-	1	0	GON4L	153999811	0.018000	0.18449	0.002000	0.10522	0.413000	0.31143	0.570000	0.23653	0.646000	0.30693	-0.291000	0.09656	GCA		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		17	74	1	0	4.7546e-09	1	4.99022e-09	17	74					A	155733187	C	A	155733187	3	1	79	1	0	0	0	0	1	0	0	0	6601	797	28	3	2124	3	GON4L	1	155733187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1037	155733187	93517434	1201	11518											
GON4L	54856	broad.mit.edu	37	chr1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtggtagtggcctccGgattgaggttggggttgcag	18	7	0	1	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000368331.1	-	16	2198	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	717					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTGGCCTCCGGATTGAGGTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18176	0.001		0.0	False		,,,				2504	0.0					ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2149-2151)cCg>cTg		gon-4-like (C. elegans)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	139	137	138		2150,2150	3	0	1	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GON4L	NM_001037533.1,NM_032292.4	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	717/2241,717/1530	155746214	3,13003	2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155746214G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2150C>T	1.37:g.155746214G>A	ENSP00000357315:p.Pro717Leu					GON4L_ENST00000368331.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR	p.P717L			Q3T8J9	GON4L_HUMAN			16	2272	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		717					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2150C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.303	0.613383	0.14066	0.0	3.49E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11063	3.0;3.0;3.0;2.81	4.82	2.97	0.34412	.	0.400789	0.25006	N	0.033870	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.0;0.001	T	0.43163	-0.9408	10	0.52906	T	0.07	.	5.8545	0.18712	0.1602:0.0:0.686:0.1538	.	717;717;717;717	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	717	ENSP00000396117:P717L;ENSP00000357315:P717L;ENSP00000271883:P717L;ENSP00000354322:P717L	ENSP00000271883:P717L	P	-	2	0	GON4L	154012838	0.784000	0.28713	0.006000	0.13384	0.072000	0.16883	1.749000	0.38319	0.666000	0.31087	0.586000	0.80456	CCG		0.428	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		72	247	0	0	0	1	0	72	247					A	155746214	G	A	155746214	3	1	79	1	0	0	0	0	1	0	0	0	6601	1116	39	1	4757	1	GON4L	1	155746214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13027	155746214	93504407	1202	11519											
GON4L	54856	broad.mit.edu	37	chr1	155783530	155783530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcggctttggagggggCgggggccccatgggcactac	18	10	0	0	rs368634028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000368331.1	-	10	1395	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	449	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAGGGGGCGGGGGCCCCA	0.517																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1345-1347)ccG>ccA		gon-4-like (C. elegans)		C	,	1,4405	2.1+/-5.4	0,1,2202	66	62	64		1347,1347	-8.9	0.2	1		64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	449/2241,449/1530	155783530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155783530C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1347G>A	1.37:g.155783530C>T						GON4L_ENST00000368331.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR	p.P449P			Q3T8J9	GON4L_HUMAN			10	1469	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		449			Poly-Pro.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.1347G>A																																																																																					0.517	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		76	229	0	0	0	1	0	76	229					T	155783530	C	T	155783530	2	4	79	1	0	0	0	0	0	0	0	1	6601	755	27	1		1	GON4L	1	155783530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37316	155783530	93467091	1203	11520											
SYT11	23208	broad.mit.edu	37	chr1	155850386	155850386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaagccagacacttgccGaagatggatatcaccggtct	9	12	3	2	rs370047410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	319	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACACTTGCCGAAGATGGATA	0.517																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)ccG>ccA		synaptotagmin XI		G		0,4406		0,0,2203	187	173	177		957	2.2	1	1		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYT11	NM_152280.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/432	155850386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155850386G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.957G>A	1.37:g.155850386G>A						SYT11_ENST00000539162.1_Silent_p.P12P	p.P319P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		3	1210	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		319			C2 2.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.957G>A	CCDS1122.1																																																																																				0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		31	724	0	0	0	1	0	31	724					A	155850386	G	A	155850386	2	1	79	1	0	0	0	0	0	0	0	1	15519	1045	37	1		1	SYT11	1	155850386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66856	155850386	93400235	1204	11521											
SYT11	23208	broad.mit.edu	37	chr1	155851195	155851195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggggaggctgatcCtgggggcacacagtgtcaca	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851195C>T	ENST00000368324.4	+	4	1445	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SYT11_ENST00000539162.1_Silent_p.L91L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	398					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAGGCTGATCCTGGGGGCACA	0.587																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1192-1194)Ctg>Ttg		synaptotagmin XI							136	142	140					1																	155851195		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851195C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1192C>T	1.37:g.155851195C>T						SYT11_ENST00000539162.1_Silent_p.L91L	p.L398L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1445	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		398					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1192C>T	CCDS1122.1																																																																																				0.587	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		46	1037	0	0	0	1	0	46	1037					T	155851195	C	T	155851195	2	4	79	1	0	0	0	0	0	0	0	1	15519	680	24	2		2	SYT11	1	155851195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	809	155851195	93399426	1205	11522											
SYT11	23208	broad.mit.edu	37	chr1	155851245	155851245	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgaacactggagagaggtCtgcgagagcccccgcaagcc	14	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	414					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1240-1242)gtC>gtA		synaptotagmin XI							61	68	66					1																	155851245		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851245C>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1242C>A	1.37:g.155851245C>A						SYT11_ENST00000539162.1_Silent_p.V107V	p.V414V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1495	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		414					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1242C>A	CCDS1122.1																																																																																				0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		182	514	1	0	5.35463e-67	1	6.77998e-67	182	514					A	155851245	C	A	155851245	2	1	79	1	0	0	0	0	0	0	0	1	15519	900	32	3		3	SYT11	1	155851245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	155851245	93399376	1206	11523											
KIAA0907	22889	broad.mit.edu	37	chr1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattccagtcactggaaaggCtggtggaggcatcaactgcc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368321.3	-	13	1596	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	525							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTGGAAAGGCTGGTGGAGGC	0.413																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1573-1575)Gcc>Tcc		KIAA0907							212	210	211					1																	155885736		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155885736C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1573G>T	1.37:g.155885736C>A	ENSP00000357304:p.Ala525Ser					KIAA0907_ENST00000368321.3_Missense_Mutation_p.A525S	p.A525S			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		13	1598	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		525					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1573G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752806	0.49362	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.31769	1.48	6.02	5.09	0.68999	.	0.263978	0.41097	N	0.000951	T	0.08403	0.0209	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.003	T	0.10894	-1.0610	10	0.23302	T	0.38	-5.3086	14.5869	0.68331	0.2659:0.7341:0.0:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	S	525	ENSP00000357304:A525S	ENSP00000357303:A525S	A	-	1	0	KIAA0907	154152360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.766000	0.38491	1.517000	0.48917	0.650000	0.86243	GCC		0.413	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		340	1008	1	0	1.99316e-121	1	2.56657e-121	340	1008					A	155885736	C	A	155885736	3	1	79	1	0	0	0	0	1	0	0	0	8229	797	28	3	279	3	KIAA0907	1	155885736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	155885736	93364885	1207	11524											
KIAA0907	22889	broad.mit.edu	37	chr1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcactatgcttggtactcCgtagggaggttgaactggct	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368321.3	-	10	1158	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGTACTCCGTAGGGAGGT	0.517																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1135-1137)Gga>Tga		KIAA0907							119	108	112					1																	155891297		2203	4300	6503	SO:0001587	stop_gained	22889							g.chr1:155891297C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1135G>T	1.37:g.155891297C>A	ENSP00000357304:p.Gly379*					KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|KIAA0907_ENST00000482337.1_5'UTR	p.G379*			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1160	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		379			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	ENST00000368321.3	37	c.1135G>T	CCDS30885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014091|5.014091	0.93404|0.93404	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.241207|.	0.42548|.	D|.	0.000698|.	.|T	.|0.17789	.|0.0427	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999979|0.999979	.|B	.|0.10296	.|0.003	.|B	.|0.17433	.|0.018	.|T	.|0.07065	.|-1.0792	.|7	0.44086|0.12103	T|T	0.13|0.63	-8.6237|-8.6237	19.2427|19.2427	0.93889|0.93889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|345	.|Q7Z7F0-3	.|.	X|L	379|345	.|.	ENSP00000357303:G379X|ENSP00000357302:R345L	G|R	-|-	1|2	0|0	KIAA0907|KIAA0907	154157921|154157921	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.274000|3.274000	0.51631|0.51631	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GGA|CGG		0.517	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		61	333	1	0	5.47352e-35	1	6.52624e-35	61	333					A	155891297	C	A	155891297	4	1	79	1	0	0	0	0	0	1	0	0	8229	661	23	3	729	3	KIAA0907	1	155891297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5561	155891297	93359324	1208	11525											
KIAA0907	22889	broad.mit.edu	37	chr1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacatcattaatttctaCttcagctaccaccaggtcat	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368321.3	-	3	342	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368320.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	107							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTAATTTCTACTTCAGCTACC	0.443																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(319-321)Gta>Tta		KIAA0907							163	146	152					1																	155899568		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899568C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.319G>T	1.37:g.155899568C>A	ENSP00000357304:p.Val107Leu					KIAA0907_ENST00000368321.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	p.V107L			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	344	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		107					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.319G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266596	0.95399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.25485	0.75	0.80722	D	1	P;D;P;P;P;P	0.53151	0.851;0.958;0.851;0.936;0.736;0.736	P;P;B;P;B;B	0.54431	0.546;0.752;0.444;0.64;0.422;0.422	T	0.24333	-1.0163	9	0.12430	T	0.62	-11.2924	18.7817	0.91934	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	107	.	ENSP00000357302:V107L	V	-	1	0	KIAA0907	154166192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	GTA		0.443	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		57	228	1	0	9.72345e-25	1	1.11288e-24	57	228					A	155899568	C	A	155899568	3	1	79	1	0	0	0	0	1	0	0	0	8229	565	20	3	1573	3	KIAA0907	1	155899568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8271	155899568	93351053	1209	11526											
MEX3A	92312	broad.mit.edu	37	chr1	156046584	156046584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttagagaagccctggagCggctctcccggggggcgcct	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	ENST00000532414.2	-	2	1343	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTGGAGCGGCTCTCCCG	0.746																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1342-1344)ccG>ccA		mex-3 RNA binding family member A							5	6	6					1																	156046584		1766	3934	5700	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046584C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1344G>A	1.37:g.156046584C>T							p.P448P	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1343	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		448						Silent	SNP	ENST00000532414.2	37	c.1344G>A	CCDS53377.1																																																																																				0.746	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		12	32	0	0	0	1	0	12	32					T	156046584	C	T	156046584	2	4	79	1	0	0	0	0	0	0	0	1	9550	755	27	1		1	MEX3A	1	156046584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147016	156046584	93204037	1210	11527											
MEX3A	92312	broad.mit.edu	37	chr1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttgccagtgcgcaccGcgatgtgcgtctcgatctcc	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	289						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(865-867)gCg>gTg		mex-3 RNA binding family member A							135	141	139					1																	156047062		2157	4251	6408	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047062G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.866C>T	1.37:g.156047062G>A	ENSP00000432845:p.Ala289Val					MEX3A_ENST00000442784.1_5'UTR	p.A289V	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	865	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		289						Missense_Mutation	SNP	ENST00000532414.2	37	c.866C>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145694	0.94603	.	.	ENSG00000254726	ENST00000532414	T	0.44083	0.93	5.3	5.3	0.74995	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.56434	0.798	T	0.47995	-0.9073	10	0.72032	D	0.01	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	289	A1L020	MEX3A_HUMAN	V	289	ENSP00000432845:A289V	ENSP00000432845:A289V	A	-	2	0	MEX3A	154313686	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.869000	0.99810	2.477000	0.83638	0.313000	0.20887	GCG		0.627	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		57	294	0	0	0	1	0	57	294					A	156047062	G	A	156047062	3	1	79	1	0	0	0	0	1	0	0	0	9550	1087	38	1	700	1	MEX3A	1	156047062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	156047062	93203559	1211	11528											
MEX3A	92312	broad.mit.edu	37	chr1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtcttggccctcaaggCcttaatcttgcagcctggga	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	157	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(469-471)Gcc>Acc		mex-3 RNA binding family member A							31	32	31					1																	156047459		2095	4236	6331	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047459C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.469G>A	1.37:g.156047459C>T	ENSP00000432845:p.Ala157Thr					MEX3A_ENST00000442784.1_5'UTR	p.A157T	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	468	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		157			KH 1.			Missense_Mutation	SNP	ENST00000532414.2	37	c.469G>A	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629529	0.87660	.	.	ENSG00000254726	ENST00000532414	T	0.30448	1.53	5.37	5.37	0.77165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.17167	-1.0378	10	0.45353	T	0.12	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	157	A1L020	MEX3A_HUMAN	T	157	ENSP00000432845:A157T	ENSP00000432845:A157T	A	-	1	0	MEX3A	154314083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.999000	0.70665	2.527000	0.85204	0.462000	0.41574	GCC		0.567	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		29	90	0	0	0	1	0	29	90					T	156047459	C	T	156047459	3	4	79	1	0	0	0	0	1	0	0	0	9550	739	26	2	1097	2	MEX3A	1	156047459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397	156047459	93203162	1212	11529											
MEX3A	92312	broad.mit.edu	37	chr1	156047474	156047474	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggccttaatcttgcagcCtgggatagggcggggaagga	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCTTGCAGCCTGGGATAGGG	0.547																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.e2-1		mex-3 RNA binding family member A							28	29	28					1																	156047474		2067	4218	6285	SO:0001630	splice_region_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047474C>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.455-1G>T	1.37:g.156047474C>A						MEX3A_ENST00000442784.1_Splice_Site		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	454	-	Hepatocellular(266;0.158)|all_neural(408;0.195)								Splice_Site	SNP	ENST00000532414.2	37		CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519069	0.64634	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEX3A	154314098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	.		0.547	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725	Intron	13	108	1	0	0.00185496	1	0.00187281	13	108					A	156047474	C	A	156047474	5	1	79	1	0	0	0	0	0	0	1	0	9550	695	24	3	1112	3	MEX3A	1	156047474	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	156047474	93203147	1213	11530											
SEMA4A	64218	broad.mit.edu	37	chr1	156130351	156130351	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctccgctggctgcatcGtaaggacctgacccccgctg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.e7+1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							107	79	88					1																	156130351		2203	4300	6503	SO:0001630	splice_region_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156130351G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.685+1G>A	1.37:g.156130351G>A						SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site		NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			7	952	+	Hepatocellular(266;0.158)							B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	SNP	ENST00000368285.3	37		CCDS1132.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519794	0.85495	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4A	154396975	1.000000	0.71417	0.958000	0.39756	0.971000	0.66376	8.819000	0.91997	2.619000	0.88677	0.467000	0.42956	.		0.537	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	Intron	41	190	0	0	0	1	0	41	190					A	156130351	G	A	156130351	5	1	79	1	0	0	0	0	0	0	1	0	14081	1159	40	1	708	1	SEMA4A	1	156130351	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82877	156130351	93120270	1214	11531											
SLC25A44	9673	broad.mit.edu	37	chr1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaacacagtcaaatcacTggtggctggtggctcagcct	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	113					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517																																						ENST00000359511.4																			0				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(337-339)cTg>cGg		solute carrier family 25, member 44							78	71	73					1																	156169976		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156169976T>G	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.338T>G	1.37:g.156169976T>G	ENSP00000352497:p.Leu113Arg					SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			2	510	+	Hepatocellular(266;0.158)		113					O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.338T>G	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434458	0.83776	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;T	0.82526	-1.62;-1.45	5.9	5.9	0.94986	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000005	D	0.92629	0.7658	H	0.95470	3.675	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.994	D;D;D	0.74348	0.983;0.95;0.976	D	0.94587	0.7784	10	0.87932	D	0	-7.9359	14.2753	0.66175	0.0:0.0:0.0:1.0	.	113;113;113	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	R	113	ENSP00000352497:L113R;ENSP00000407560:L113R	ENSP00000352497:L113R	L	+	2	0	SLC25A44	154436600	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.825000	0.86693	2.254000	0.74563	0.482000	0.46254	CTG		0.517	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		63	197	0	0	0	1	0	63	197					G	156169976	T	G	156169976	3	3	79	1	0	0	0	0	1	0	0	0	14559	1580	55	4	340	4	SLC25A44	1	156169976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39625	156169976	93080645	1215	11532											
PMF1	11243	broad.mit.edu	37	chr1	156203496	156203496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaattgtggaagaaggCaaagtccgcaaagagccagc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368273.4	+	3	361	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000368277.3_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TGGAAGAAGGCAAAGTCCGCA	0.458																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(343-345)ggC>ggT		polyamine-modulated factor 1							105	113	110					1																	156203496		2203	4300	6503	SO:0001819	synonymous_variant	11243							g.chr1:156203496C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.351C>T	1.37:g.156203496C>T						PMF1_ENST00000368279.3_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000368273.4_Silent_p.G117G	p.G115G	NM_007221.3	NP_009152.2					3	354	+	Hepatocellular(266;0.158)								Silent	SNP	ENST00000368273.4	37	c.345C>T	CCDS55648.1																																																																																				0.458	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		182	494	0	0	0	1	0	182	494					T	156203496	C	T	156203496	2	4	79	1	0	0	0	0	0	0	0	1	12175	697	25	2		2	PMF1	1	156203496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33520	156203496	93047125	1216	11533											
PMF1	632	broad.mit.edu	37	chr1	156209359	156209359	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctacacagagaacagagGgagctggttgctgtgctgag	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156209359G>T	ENST00000368272.4	+	0	0				PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S|PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.R195S|PMF1-BGLAP_ENST00000368276.4_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein						bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GAGAACAGAGGGAGCTGGTTG	0.567																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(583-585)agG>agT		polyamine-modulated factor 1							134	131	132					1																	156209359		2203	4300	6503	SO:0001631	upstream_gene_variant	11243							g.chr1:156209359G>T	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"osteocalcin"	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819		1.37:g.156209359G>T	Exception_encountered					PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S	p.R195S	NM_007221.3	NP_009152.2					5	594	+	Hepatocellular(266;0.158)							Q5TCK6	Missense_Mutation	SNP	ENST00000368272.4	37	c.585G>T	CCDS1134.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.53|16.53	3.148839|3.148839	0.57151|0.57151	.|.	.|.	ENSG00000160783|ENSG00000160783	ENST00000368279|ENST00000368273;ENST00000368277	T|T;T	0.57907|0.33654	0.37|1.4;1.5	5.07|5.07	2.14|2.14	0.27477|0.27477	.|.	.|.	.|.	.|.	.|.	T|T	0.12475|0.12475	0.0303|0.0303	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|B	0.29301|0.23377	0.241|0.084	B|B	0.38985|0.20767	0.287|0.031	T|T	0.06807|0.06807	-1.0806|-1.0806	9|9	0.87932|0.72032	D|D	0|0.01	.|.	9.4035|9.4035	0.38447|0.38447	0.256:0.0:0.744:0.0|0.256:0.0:0.744:0.0	.|.	175|195	Q5TCK1|Q6P1K2	.|PMF1_HUMAN	V|S	175|197;195	ENSP00000357262:G175V|ENSP00000357256:R197S;ENSP00000357260:R195S	ENSP00000357262:G175V|ENSP00000357256:R197S	G|R	+|+	2|3	0|2	PMF1|PMF1	154475983|154475983	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.658000|0.658000	0.24979|0.24979	0.408000|0.408000	0.25621|0.25621	-0.810000|-0.810000	0.03169|0.03169	GGG|AGG		0.567	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		123	468	1	0	3.75716e-53	1	4.6801e-53	123	468					T	156209359	G	T	156209359	1	4	79	0	1	0	0	0	0	0	0	0	12175	1223	43	3		3	PMF1	1	156209359	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	156209359	93041262	1217	11534											
SMG5	23381	broad.mit.edu	37	chr1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaatgttaccaggcaTctgcatcctgcctcttcagc	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	941	PINc.				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)			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)					TTACCAGGCATCTGCATCCTG	0.547																																						ENST00000361813.5																			0				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						c.(2821-2823)gAt>gGt		SMG5 nonsense mediated mRNA decay factor							224	215	218					1																	156221200		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.chr1:156221200T>C	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.2822A>G	1.37:g.156221200T>C	ENSP00000355261:p.Asp941Gly					SMG5_ENST00000368267.4_Intron	p.D941G	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			20	2966	-	Hepatocellular(266;0.158)		941			PINc.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2822A>G	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898959	0.72754	.	.	ENSG00000198952	ENST00000361813	T	0.33654	1.4	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.060757	0.64402	D	0.000005	T	0.27489	0.0675	L	0.52573	1.65	0.80722	D	1	P	0.47677	0.899	P	0.45913	0.497	T	0.10636	-1.0621	10	0.66056	D	0.02	-26.2081	13.2101	0.59819	0.0:0.0:0.0:1.0	.	941	Q9UPR3	SMG5_HUMAN	G	941	ENSP00000355261:D941G	ENSP00000355261:D941G	D	-	2	0	SMG5	154487824	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.029000	0.76477	2.062000	0.61559	0.459000	0.35465	GAT		0.547	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		177	849	0	0	0	1	0	177	849					C	156221200	T	C	156221200	3	2	79	1	0	0	0	0	1	0	0	0	14846	1435	50	4	240	4	SMG5	1	156221200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11841	156221200	93029421	1218	11535											
SMG5	23381	broad.mit.edu	37	chr1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggttcccataggctccCtcaaaggacacttctgactg	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000368267.5_Missense_Mutation_p.E246D|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	246					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)			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)					CATAGGCTCCCTCAAAGGACA	0.498																																						ENST00000361813.5																			0				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						c.(736-738)gaG>gaT		SMG5 nonsense mediated mRNA decay factor							166	166	166					1																	156238182		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.chr1:156238182C>A	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.738G>T	1.37:g.156238182C>A	ENSP00000355261:p.Glu246Asp					SMG5_ENST00000368267.4_Missense_Mutation_p.E246D	p.E246D	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			8	882	-	Hepatocellular(266;0.158)		246					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.738G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463389	0.26248	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.30182	1.54;1.54	6.02	3.03	0.35002	.	0.099820	0.64402	D	0.000002	T	0.04543	0.0124	N	0.05012	-0.13	0.42050	D	0.991117	B	0.18013	0.025	B	0.15052	0.012	T	0.25187	-1.0139	10	0.14656	T	0.56	-33.8617	8.0339	0.30480	0.0:0.5959:0.0:0.4041	.	246	Q9UPR3	SMG5_HUMAN	D	246	ENSP00000355261:E246D;ENSP00000357250:E246D	ENSP00000355261:E246D	E	-	3	2	SMG5	154504806	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.277000	0.18734	0.812000	0.34326	0.655000	0.94253	GAG		0.498	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		207	866	1	0	4.77903e-77	1	6.10086e-77	207	866					A	156238182	C	A	156238182	3	1	79	1	0	0	0	0	1	0	0	0	14846	680	24	3	2372	3	SMG5	1	156238182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	156238182	93012439	1219	11536											
SMG5	23381	broad.mit.edu	37	chr1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggcacattccaaagtgCtccggctgtggatgtgctac	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					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)			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)					TTCCAAAGTGCTCCGGCTGTG	0.522																																						ENST00000361813.5																			0				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						c.(313-315)aGc>aTc		SMG5 nonsense mediated mRNA decay factor							64	55	58					1																	156247016		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.chr1:156247016C>A	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.314G>T	1.37:g.156247016C>A	ENSP00000355261:p.Ser105Ile					SMG5_ENST00000368267.4_Missense_Mutation_p.S105I	p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			4	458	-	Hepatocellular(266;0.158)		105					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.314G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC		0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		19	100	1	0	1.01871e-10	1	1.082e-10	19	100					A	156247016	C	A	156247016	3	1	79	1	0	0	0	0	1	0	0	0	14846	797	28	3	2812	3	SMG5	1	156247016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8834	156247016	93003605	1220	11537											
C1orf85	112770	broad.mit.edu	37	chr1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccggtgcatattcatcgtCgatggagtgctgctcctgca	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	257					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TATTCATCGTCGATGGAGTGC	0.587																																						ENST00000362007.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(769-771)Gac>Aac		chromosome 1 open reading frame 85							117	113	114					1																	156263838		2203	4300	6503	SO:0001583	missense	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263838C>T	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.769G>A	1.37:g.156263838C>T	ENSP00000354553:p.Asp257Asn					C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.D171N	p.D257N	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			4	795	-	Hepatocellular(266;0.158)		257					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	c.769G>A	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063799	0.76187	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.76328	2.33	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67948	-0.5538	10	0.87932	D	0	-3.9229	16.9635	0.86279	0.0:1.0:0.0:0.0	.	176;257	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	257;171	ENSP00000354553:D257N;ENSP00000357247:D171N	ENSP00000354553:D257N	D	-	1	0	C1orf85	154530462	1.000000	0.71417	0.763000	0.31416	0.327000	0.28475	5.832000	0.69337	2.611000	0.88343	0.462000	0.41574	GAC		0.587	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		30	920	0	0	0	1	0	30	920					T	156263838	C	T	156263838	3	4	79	1	0	0	0	0	1	0	0	0	2069	884	31	1	463	1	C1orf85	1	156263838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	156263838	92986783	1221	11538											
VHLL	391104	broad.mit.edu	37	chr1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaacccaccccgttccccGctctccagggcattacctcc	5	21	1	0	rs372668299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602																																						ENST00000339922.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(13-15)gCg>gTg		von Hippel-Lindau tumor suppressor-like		G	VAL/ALA	2,4400		0,2,2199	39	44	42		14	0.4	0	1		42	1,8595		0,1,4297	no	missense	VHLL	NM_001004319.2	64	0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	5/140	156268967	3,12995	2201	4298	6499	SO:0001583	missense	391104				protein ubiquitination	nucleus		g.chr1:156268967G>A			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"VHL pseudogene"	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.14C>T	1.37:g.156268967G>A	ENSP00000464258:p.Ala5Val						p.A5V	NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN			1	461	-	Hepatocellular(266;0.158)		5					A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	37	c.14C>T																																																																																					0.602	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		148	398	0	0	0	1	0	148	398					A	156268967	G	A	156268967	3	1	79	1	0	0	0	0	1	0	0	0	17217	1087	38	1	409	1	VHLL	1	156268967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5129	156268967	92981654	1222	11539											
CCT3	7203	broad.mit.edu	37	chr1	156279038	156279038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccggctctggtcatcGcctttctttttgtggcctga	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1588-1590)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							115	118	117					1																	156279038		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156279038G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	1.37:g.156279038G>A						CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000472765.2_Silent_p.G485G	p.G530G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			14	1870	-	Hepatocellular(266;0.158)		530					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1590C>T	CCDS1140.2																																																																																				0.527	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		152	657	0	0	0	1	0	152	657					A	156279038	G	A	156279038	2	1	79	1	0	0	0	0	0	0	0	1	2963	1074	38	1		1	CCT3	1	156279038	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10071	156279038	92971583	1223	11540											
CCT3	7203	broad.mit.edu	37	chr1	156288797	156288797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggagtcttcaatgatGcctccaggtatctgaacaaa	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	207					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCAATGATGCCTCCAGGTA	0.443																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(619-621)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							75	72	73					1																	156288797		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288797G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.621C>T	1.37:g.156288797G>A						CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G|CCT3_ENST00000472765.2_Silent_p.G162G	p.G207G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			8	901	-	Hepatocellular(266;0.158)		207					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.621C>T	CCDS1140.2																																																																																				0.443	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		28	259	0	0	0	1	0	28	259					A	156288797	G	A	156288797	2	1	79	1	0	0	0	0	0	0	0	1	2963	1306	46	2		2	CCT3	1	156288797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9759	156288797	92961824	1224	11541											
CCT3	7203	broad.mit.edu	37	chr1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctaatttcgatcatggacTtggccgctggatgctggact	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	78					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GATCATGGACTTGGCCGCTGG	0.438																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(232-234)aAg>aGg		chaperonin containing TCP1, subunit 3 (gamma)							120	121	121					1																	156303409		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156303409T>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.233A>G	1.37:g.156303409T>C	ENSP00000295688:p.Lys78Arg					CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R|CCT3_ENST00000472765.2_Missense_Mutation_p.K33R	p.K78R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			5	513	-	Hepatocellular(266;0.158)		78					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.233A>G	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	T	31	5.095880	0.94197	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.97110	0.929;1.0;0.984	D	0.90355	0.4369	10	0.87932	D	0	-18.78	12.6112	0.56552	0.0:0.0:0.0:1.0	.	40;78;78	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	78;40;33;33;102;78;64;57;78	ENSP00000295688:K78R;ENSP00000357242:K40R;ENSP00000357244:K33R;ENSP00000431543:K33R;ENSP00000413308:K102R;ENSP00000434232:K78R;ENSP00000388799:K64R;ENSP00000435026:K57R;ENSP00000413431:K78R	ENSP00000295688:K78R	K	-	2	0	CCT3	154570033	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.394000	0.79862	2.234000	0.73211	0.528000	0.53228	AAG		0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		11	529	0	0	0	1	0	11	529					C	156303409	T	C	156303409	3	2	79	1	0	0	0	0	1	0	0	0	2963	1609	56	4	1444	4	CCT3	1	156303409	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14612	156303409	92947212	1225	11542											
RHBG	57127	broad.mit.edu	37	chr1	156339202	156339202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaccacagtaacgcggaCaatgaattttactttcgcta	7	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156339202C>T	ENST00000368249.1	+	1	200	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	54					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTAACGCGGACAATGAATTTT	0.582																																						ENST00000368249.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(160-162)gaC>gaT		Rh family, B glycoprotein (gene/pseudogene)							29	31	30					1																	156339202		1983	4156	6139	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156339202C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.162C>T	1.37:g.156339202C>T						RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000255013.3_5'UTR	p.D54D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN			1	200	+	Hepatocellular(266;0.158)		54					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.162C>T																																																																																					0.582	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		5	129	0	0	0	1	0	5	129					T	156339202	C	T	156339202	2	4	79	1	0	0	0	0	0	0	0	1	13374	477	17	2		2	RHBG	1	156339202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35793	156339202	92911419	1226	11543											
RHBG	57127	broad.mit.edu	37	chr1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgctgcaggcttccaGgacgtgcatgccatggtctt	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	65					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637																																						ENST00000368249.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(193-195)caG>caT		Rh family, B glycoprotein (gene/pseudogene)							119	121	120					1																	156347099		2202	4300	6502	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347099G>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.195G>T	1.37:g.156347099G>T	ENSP00000357232:p.Gln65His					RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000255013.3_5'UTR	p.Q65H	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN			2	233	+	Hepatocellular(266;0.158)		65					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.195G>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469821	0.84533	.	.	ENSG00000132677	ENST00000368249;ENST00000368246	T;T	0.25085	1.82;1.82	4.86	3.87	0.44632	Ammonium transporter AmtB-like (3);	0.055699	0.64402	D	0.000001	T	0.48589	0.1508	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	T	0.57207	-0.7851	10	0.87932	D	0	-25.444	8.2552	0.31751	0.1884:0.0:0.8116:0.0	.	65;102	Q9H310;Q5SZW5	RHBG_HUMAN;.	H	65	ENSP00000357232:Q65H;ENSP00000357229:Q65H	ENSP00000357229:Q65H	Q	+	3	2	RHBG	154613723	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.552000	0.60747	2.512000	0.84698	0.561000	0.74099	CAG		0.637	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		195	678	1	0	1.92489e-79	1	2.46029e-79	195	678					T	156347099	G	T	156347099	3	4	79	1	0	0	0	0	1	0	0	0	13374	991	35	3	201	3	RHBG	1	156347099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7897	156347099	92903522	1227	11544											
MEF2D	4209	broad.mit.edu	37	chr1	156437841	156437841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcctcaggctctggggCtgggcgcagcaggcccagtg	16	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	ENST00000348159.4	-	11	1978	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	500					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTCTGGGGCTGGGCGCAGC	0.647																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1498-1500)Gcc>Acc		myocyte enhancer factor 2D							55	55	55					1																	156437841		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156437841C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1498G>A	1.37:g.156437841C>T	ENSP00000271555:p.Ala500Thr					MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T	p.A500T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			11	1978	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		500					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1498G>A	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395044	0.42512	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.48;0.1;0.1	4.01	4.01	0.46588	.	0.241597	0.35555	N	0.003133	T	0.17365	0.0417	N	0.14661	0.345	0.33201	D	0.552116	B;P;B	0.39282	0.011;0.666;0.041	B;B;B	0.33339	0.005;0.162;0.011	T	0.11275	-1.0594	10	0.46703	T	0.11	-18.3887	4.937	0.13946	0.2118:0.6797:0.0:0.1085	.	505;500;493	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	T	500;499;493;454;493;492	ENSP00000271555:A500T;ENSP00000343159:A499T;ENSP00000357223:A493T;ENSP00000344705:A454T;ENSP00000353803:A493T;ENSP00000388505:A492T	ENSP00000343159:A499T	A	-	1	0	MEF2D	154704465	0.985000	0.35326	1.000000	0.80357	0.956000	0.61745	2.693000	0.47027	2.084000	0.62774	0.313000	0.20887	GCC		0.647	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		16	509	0	0	0	1	0	16	509					T	156437841	C	T	156437841	3	4	79	1	0	0	0	0	1	0	0	0	9499	797	28	2	75	2	MEF2D	1	156437841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90742	156437841	92812780	1228	11545											
IQGAP3	128239	broad.mit.edu	37	chr1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttccgcaggacgcgcCgctgcttctctgccagtggc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCGCCGCTGCTTCTC	0.642																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4312-4314)cGg>cAg		IQ motif containing GTPase activating protein 3							52	47	49					1																	156499988		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499988C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4313G>A	1.37:g.156499988C>T	ENSP00000354451:p.Arg1438Gln						p.R1438Q	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			34	4323	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1438					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4313G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033213	0.35893	.	.	ENSG00000183856	ENST00000361170	T	0.45276	0.9	4.5	0.432	0.16529	RasGAP protein, C-terminal (1);	0.204155	0.40554	N	0.001067	T	0.12902	0.0313	L	0.41710	1.295	0.32173	N	0.581325	B	0.23377	0.084	B	0.15052	0.012	T	0.11227	-1.0596	10	0.34782	T	0.22	-8.4963	8.3785	0.32457	0.0:0.6506:0.0:0.3494	.	1438	Q86VI3	IQGA3_HUMAN	Q	1438	ENSP00000354451:R1438Q	ENSP00000354451:R1438Q	R	-	2	0	IQGAP3	154766612	0.000000	0.05858	0.014000	0.15608	0.441000	0.31987	0.238000	0.18004	-0.076000	0.12775	-0.258000	0.10820	CGG		0.642	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		29	95	0	0	0	1	0	29	95					T	156499988	C	T	156499988	3	4	79	1	0	0	0	0	1	0	0	0	7846	652	23	1	602	1	IQGAP3	1	156499988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62147	156499988	92750633	1229	11546											
IQGAP3	128239	broad.mit.edu	37	chr1	156501021	156501021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaactgtatgatatcGgccaacagctgcttggtgct	13	8	0	1	rs201700249	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1374					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATGATATCGGCCAACAGCT	0.592													G|||	32	0.00638978	0.0	0.0	5008	,	,		20641	0.001		0.0	False		,,,				2504	0.0317					ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4120-4122)gcC>gcT		IQ motif containing GTPase activating protein 3							138	124	128					1																	156501021		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156501021G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4122C>T	1.37:g.156501021G>A							p.A1374A	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			33	4132	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1374					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4122C>T	CCDS1144.1																																																																																				0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		131	363	0	0	0	1	0	131	363					A	156501021	G	A	156501021	2	1	79	1	0	0	0	0	0	0	0	1	7846	1103	39	1		1	IQGAP3	1	156501021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	156501021	92749600	1230	11547											
IQGAP3	128239	broad.mit.edu	37	chr1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccaagacctgaacttgaGgtgtgtttcctccagatagt	10	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1244					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAACTTGAGGTGTGTTTCC	0.562																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(3730-3732)Ctc>Ttc		IQ motif containing GTPase activating protein 3							110	93	98					1																	156504303		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156504303G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3730C>T	1.37:g.156504303G>A	ENSP00000354451:p.Leu1244Phe						p.L1244F	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			29	3740	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1244					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3730C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962745	0.18583	.	.	ENSG00000183856	ENST00000361170	D	0.82167	-1.58	5.15	3.24	0.37175	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	1.032550	0.07629	N	0.928249	T	0.61160	0.2325	L	0.54323	1.7	0.28454	N	0.91623	B	0.24258	0.1	B	0.18561	0.022	T	0.54860	-0.8230	10	0.56958	D	0.05	-2.5708	2.0226	0.03512	0.1698:0.159:0.5066:0.1646	.	1244	Q86VI3	IQGA3_HUMAN	F	1244	ENSP00000354451:L1244F	ENSP00000354451:L1244F	L	-	1	0	IQGAP3	154770927	0.000000	0.05858	0.908000	0.35775	0.987000	0.75469	-0.196000	0.09532	0.715000	0.32103	0.563000	0.77884	CTC		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		45	167	0	0	0	1	0	45	167					A	156504303	G	A	156504303	3	1	79	1	0	0	0	0	1	0	0	0	7846	1000	35	2	1205	2	IQGAP3	1	156504303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3282	156504303	92746318	1231	11548											
TTC24	164118	broad.mit.edu	37	chr1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgccctcggcaactaTcaggaagctcgggagtttca	10	12	2	0	rs371550971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368237.3	+	2	867	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	289										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617																																						ENST00000368236.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(865-867)taT>taG		tetratricopeptide repeat domain 24							41	42	42					1																	156552183		1907	4128	6035	SO:0001587	stop_gained	164118						binding	g.chr1:156552183T>G		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.867T>G	1.37:g.156552183T>G	ENSP00000357220:p.Tyr289*					TTC24_ENST00000368237.3_Nonsense_Mutation_p.Y289*|TTC24_ENST00000495690.1_3'UTR	p.Y289*	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN			3	903	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289					Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	37	c.867T>G	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.357375|4.357375	0.82243|0.82243	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.38|4.38	-1.59|-1.59	0.08453|0.08453	.|.	.|0.322824	.|0.22670	.|N	.|0.057070	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19778|.	-1.0295|.	3|.	.|.	.|.	.|.	-7.8739|-7.8739	9.9833|9.9833	0.41826|0.41826	0.0:0.5843:0.0:0.4157|0.0:0.5843:0.0:0.4157	.|.	.|.	.|.	.|.	S|X	62;54|289	.|.	.|.	I|Y	+|+	2|3	0|2	TTC24|TTC24	154818807|154818807	0.000000|0.000000	0.05858|0.05858	0.830000|0.830000	0.32933|0.32933	0.834000|0.834000	0.47266|0.47266	-0.407000|-0.407000	0.07178|0.07178	-0.152000|-0.152000	0.11156|0.11156	0.379000|0.379000	0.24179|0.24179	ATC|TAT		0.617	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		33	119	0	0	0	1	0	33	119					G	156552183	T	G	156552183	4	3	79	1	0	0	0	0	0	1	0	0	16746	1442	50	4	873	4	TTC24	1	156552183	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47880	156552183	92698438	1232	11549											
APOA1BP	128240	broad.mit.edu	37	chr1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtggagaagggaaatgCtggagggatccagccagact	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	APOA1BP_ENST00000368234.3_Silent_p.C211C|GPATCH4_ENST00000497287.1_5'Flank	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(688-690)gCt>gTt		apolipoprotein A-I binding protein							119	120	120					1																	156563698		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563698C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.689C>T	1.37:g.156563698C>T	ENSP00000357218:p.Ala230Val					APOA1BP_ENST00000368234.3_Silent_p.C211C	p.A230V	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			6	732	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		230			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.689C>T	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711231	0.48517	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.37411	1.2	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.473392	0.23176	N	0.051061	T	0.12135	0.0295	N	0.12663	0.25	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.06881	-1.0802	10	0.23302	T	0.38	.	16.5957	0.84795	0.0:1.0:0.0:0.0	.	230	Q8NCW5	AIBP_HUMAN	V	248;230	ENSP00000357218:A230V	ENSP00000357218:A230V	A	+	2	0	APOA1BP	154830322	0.432000	0.25554	0.553000	0.28255	0.656000	0.38851	4.888000	0.63164	2.223000	0.72356	0.563000	0.77884	GCT		0.532	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		195	677	0	0	0	1	0	195	677					T	156563698	C	T	156563698	3	4	79	1	0	0	0	0	1	0	0	0	781	797	28	2	711	2	APOA1BP	1	156563698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11515	156563698	92686923	1233	11550											
BCAN	63827	broad.mit.edu	37	chr1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgccccacaggggtcGtctttctctaccgagagggc	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	BCAN_ENST00000361588.5_Missense_Mutation_p.V158I|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	158	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)					CACAGGGGTCGTCTTTCTCTA	0.627																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(472-474)Gtc>Atc		brevican							45	47	46					1																	156617305		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617305G>A	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.472G>A	1.37:g.156617305G>A	ENSP00000331210:p.Val158Ile					BCAN_ENST00000361588.5_Missense_Mutation_p.V158I|RP11-284F21.7_ENST00000448869.1_RNA	p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			4	808	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		158			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.472G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667133	0.88251	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.15	4.15	0.48705	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.51477	D	0.000090	T	0.36220	0.0959	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;P	0.74674	0.984;0.888	T	0.29212	-1.0019	10	0.72032	D	0.01	-24.0919	15.1361	0.72566	0.0:0.0:1.0:0.0	.	158;158	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	158;158;56;158	ENSP00000331210:V158I;ENSP00000389898:V158I;ENSP00000401709:V56I;ENSP00000354925:V158I	ENSP00000331210:V158I	V	+	1	0	BCAN	154883929	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.494000	0.97962	2.120000	0.65058	0.442000	0.29010	GTC		0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		49	243	0	0	0	1	0	49	243					A	156617305	G	A	156617305	3	1	79	1	0	0	0	0	1	0	0	0	1346	1145	40	1	482	1	BCAN	1	156617305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53607	156617305	92633316	1234	11551											
BCAN	63827	broad.mit.edu	37	chr1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccaataagcacagccGcttcaacgtctactgcttcc	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)					AAGCACAGCCGCTTCAACGTC	0.572																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1039-1041)cGc>cAc		brevican							85	87	86					1																	156618630		2203	4299	6502	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618630G>A	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.1040G>A	1.37:g.156618630G>A	ENSP00000331210:p.Arg347His					BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1376	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		347			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1040G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC		0.572	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		224	622	0	0	0	1	0	224	622					A	156618630	G	A	156618630	3	1	79	1	0	0	0	0	1	0	0	0	1346	1087	38	1	1058	1	BCAN	1	156618630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1325	156618630	92631991	1235	11552											
NES	10763	broad.mit.edu	37	chr1	156639369	156639369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccaagttgggaccctgGccattaacaccaatgatgtc	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	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)			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)					TGGGACCCTGGCCATTAACAC	0.577																																						ENST00000368223.3																			0				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						c.(4609-4611)ggC>ggA		nestin							100	84	90					1																	156639369		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.chr1:156639369G>T	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.4611C>A	1.37:g.156639369G>T							p.G1537G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4743	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1537			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.4611C>A	CCDS1151.1																																																																																				0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		44	490	1	0	9.58827e-17	1	1.05493e-16	44	490					T	156639369	G	T	156639369	2	4	79	1	0	0	0	0	0	0	0	1	10379	1190	42	3		3	NES	1	156639369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20739	156639369	92611252	1236	11553											
NES	10763	broad.mit.edu	37	chr1	156639791	156639791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcaggatccagtaGcagctggggcacctggccca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1397	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)			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)					GGATCCAGTAGCAGCTGGGGC	0.602																																						ENST00000368223.3																			0				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						c.(4189-4191)Cta>Tta		nestin							32	37	35					1																	156639791		2203	4299	6502	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.chr1:156639791G>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.4189C>T	1.37:g.156639791G>A							p.L1397L	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4321	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1397			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.4189C>T	CCDS1151.1																																																																																				0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		71	235	0	0	0	1	0	71	235					A	156639791	G	A	156639791	2	1	79	1	0	0	0	0	0	0	0	1	10379	962	34	2		2	NES	1	156639791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	156639791	92610830	1237	11554											
NES	10763	broad.mit.edu	37	chr1	156640644	156640644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcttccctggtcagatgGcctgggtcccccagccctcc	9	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1112	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)			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)					TGGTCAGATGGCCTGGGTCCC	0.642																																						ENST00000368223.3																			0				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						c.(3334-3336)ggC>ggT		nestin							33	35	34					1																	156640644		2202	4299	6501	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.chr1:156640644G>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.3336C>T	1.37:g.156640644G>A							p.G1112G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3468	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1112			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3336C>T	CCDS1151.1																																																																																				0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		45	266	0	0	0	1	0	45	266					A	156640644	G	A	156640644	2	1	79	1	0	0	0	0	0	0	0	1	10379	1190	42	2		2	NES	1	156640644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	853	156640644	92609977	1238	11555											
NES	10763	broad.mit.edu	37	chr1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggctttcctgagccagttCttggtccttctccaccgtat	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	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)			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)					TGAGCCAGTTCTTGGTCCTTC	0.567																																						ENST00000368223.3																			0				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						c.(2878-2880)Gaa>Taa		nestin							198	210	206					1																	156641102		2203	4300	6503	SO:0001587	stop_gained	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.chr1:156641102C>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.2878G>T	1.37:g.156641102C>A	ENSP00000357206:p.Glu960*						p.E960*	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3010	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		960			Tail.		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	37	c.2878G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592787	0.98378	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.22	5.22	0.72569	.	0.255042	0.20715	N	0.087003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3428	0.87301	0.0:1.0:0.0:0.0	.	.	.	.	X	960	.	ENSP00000357206:E960X	E	-	1	0	NES	154907726	0.046000	0.20272	0.009000	0.14445	0.016000	0.09150	3.680000	0.54641	2.454000	0.82982	0.563000	0.77884	GAA		0.567	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		125	1368	1	0	4.8811e-34	1	5.79764e-34	125	1368					A	156641102	C	A	156641102	4	1	79	1	0	0	0	0	0	1	0	0	10379	922	32	3	1991	3	NES	1	156641102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458	156641102	92609519	1239	11556											
NES	10763	broad.mit.edu	37	chr1	156641406	156641406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctagaggattcattgcCccctgatttatttcttctgg	7	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	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)			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)					GATTCATTGCCCCCTGATTTA	0.448																																						ENST00000368223.3																			0				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						c.(2572-2574)ggG>ggA		nestin							105	107	107					1																	156641406		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.chr1:156641406C>T	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.2574G>A	1.37:g.156641406C>T							p.G858G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2706	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		858	QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.2574G>A	CCDS1151.1																																																																																				0.448	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		59	534	0	0	0	1	0	59	534					T	156641406	C	T	156641406	2	4	79	1	0	0	0	0	0	0	0	1	10379	610	22	2		2	NES	1	156641406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	156641406	92609215	1240	11557											
NES	10763	broad.mit.edu	37	chr1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcaagagacctcaGgggttcctgattctcctttg	8	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	700	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)			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)					AGAGACCTCAGGGGTTCCTGA	0.468																																						ENST00000368223.3																			0				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						c.(2098-2100)Ctg>Atg		nestin							69	66	67					1																	156641882		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641882G>T	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.2098C>A	1.37:g.156641882G>T	ENSP00000357206:p.Leu700Met						p.L700M	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2230	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		700			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2098C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215857	0.58452	.	.	ENSG00000132688	ENST00000368223	D	0.88896	-2.44	5.4	2.47	0.30058	.	0.809762	0.09720	N	0.764638	T	0.81088	0.4750	L	0.52573	1.65	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.69888	-0.5023	10	0.49607	T	0.09	.	8.9551	0.35812	0.0785:0.2821:0.6394:0.0	.	700	P48681	NEST_HUMAN	M	700	ENSP00000357206:L700M	ENSP00000357206:L700M	L	-	1	2	NES	154908506	0.222000	0.23652	0.000000	0.03702	0.231000	0.25187	0.619000	0.24388	0.248000	0.21435	0.563000	0.77884	CTG		0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		102	264	1	0	2.43056e-48	1	2.99958e-48	102	264					T	156641882	G	T	156641882	3	4	79	1	0	0	0	0	1	0	0	0	10379	991	35	3	2771	3	NES	1	156641882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476	156641882	92608739	1241	11558											
CRABP2	1382	broad.mit.edu	37	chr1	156670843	156670843	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagcatcacattcacCcctgtggggagagaggagag	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	24					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	TCACATTCACCCCTGTGGGGA	0.542																																						ENST00000368222.3																			0				endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6						c.e2-1		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						74	65	68					1																	156670843		2203	4300	6503	SO:0001630	splice_region_variant	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670843C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"Fatty acid binding protein family"	2339	protein-coding gene	gene with protein product		180231	"cellular retinoic acid-binding protein 2"			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.71-1G>A	1.37:g.156670843C>T						CRABP2_ENST00000368221.1_Splice_Site_p.G24_splice	p.G24_splice	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN			2	226	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		24					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Splice_Site	SNP	ENST00000368222.3	37	c.70_splice	CCDS1152.1																																																																																				0.542	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878	Silent	22	260	0	0	0	1	0	22	260					T	156670843	C	T	156670843	5	4	79	1	0	0	0	0	0	0	1	0	3853	637	22	2	356	2	CRABP2	1	156670843	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28961	156670843	92579778	1242	11559											
C1orf66	51093	broad.mit.edu	37	chr1	156705674	156705674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagacgcttattctactgGaccggctgctgtaccttcag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156705674G>A	ENST00000368216.4	+	7	1909	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000476229.1_Missense_Mutation_p.G142E|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G265E	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	427						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TATTCTACTGGACCGGCTGCT	0.612																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1279-1281)Gac>Aac		ribosomal RNA adenine dimethylase domain containing 1							119	106	110					1																	156705674		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156705674G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1279G>A	1.37:g.156705674G>A	ENSP00000357199:p.Asp427Asn					RRNAD1_ENST00000476229.1_Missense_Mutation_p.G142E|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G265E	p.D427N	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			7	1909	+			427					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.1279G>A	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.901412|4.901412	0.92035|0.92035	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368216|ENST00000368218;ENST00000476229	D|.	0.91407|.	-2.84|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75568|0.75568	0.3867|0.3867	M|M	0.92026|0.92026	3.265|3.265	0.35039|0.35039	D|D	0.759537|0.759537	D|D	0.89917|0.61697	1.0|0.99	D|P	0.97110|0.54856	1.0|0.762	T|T	0.82880|0.82880	-0.0238|-0.0238	10|8	0.87932|0.72032	D|D	0|0.01	-28.4456|-28.4456	17.2034|17.2034	0.86912|0.86912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	427|265	Q96FB5|Q4VX71	RRNAD_HUMAN|.	N|E	427|265;142	ENSP00000357199:D427N|.	ENSP00000357199:D427N|ENSP00000357201:G265E	D|G	+|+	1|2	0|0	RRNAD1|RRNAD1	154972298|154972298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.857000|8.857000	0.92250|0.92250	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.612	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		12	605	0	0	0	1	0	12	605					A	156705674	G	A	156705674	3	1	79	1	0	0	0	0	1	0	0	0	2063	1174	41	2	1305	2	C1orf66	1	156705674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34831	156705674	92544947	1243	11560											
HDGF	3068	broad.mit.edu	37	chr1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtggctcacctgatagccgGaagccttgacagtagggttg	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(292-294)tCc>tAc		hepatoma-derived growth factor							115	113	114					1																	156714810		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714810G>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.293C>A	1.37:g.156714810G>T	ENSP00000349878:p.Ser98Tyr					HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000465180.1_5'UTR	p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	3	607	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	98					B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.293C>A	CCDS1156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.472347|2.472347	0.43942|0.43942	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000406805|ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.172694	.|0.40908	.|U	.|0.001000	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.72353|0.72353	2.195|2.195	0.31276|0.31276	N|N	0.691222|0.691222	.|D;P;D;D;D	.|0.61080	.|0.989;0.902;0.989;0.989;0.963	.|P;P;P;P;P	.|0.56916	.|0.809;0.761;0.809;0.809;0.703	T|T	0.74241|0.74241	-0.3729|-0.3729	6|10	0.12103|0.87932	T|D	0.63|0	-8.5412|-8.5412	14.8085|14.8085	0.69977|0.69977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;98;114;91;98	.|B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.|.;.;.;.;HDGF_HUMAN	T|Y	98|98;91;98;66;114	.|ENSP00000349878:S98Y;ENSP00000357192:S91Y;ENSP00000443120:S98Y;ENSP00000416752:S66Y;ENSP00000357189:S114Y	ENSP00000438398:P98T|ENSP00000349878:S98Y	P|S	-|-	1|2	0|0	HDGF|HDGF	154981434|154981434	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.493000|0.493000	0.33554|0.33554	5.138000|5.138000	0.64795|0.64795	2.378000|2.378000	0.81104|0.81104	0.306000|0.306000	0.20318|0.20318	CCG|TCC		0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		131	458	1	0	8.08879e-62	1	1.01897e-61	131	458					T	156714810	G	T	156714810	3	4	79	1	0	0	0	0	1	0	0	0	7048	1174	41	3	445	3	HDGF	1	156714810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9136	156714810	92535811	1244	11561											
PRCC	5546	broad.mit.edu	37	chr1	156764479	156764479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagcggctgcagggcaagaGgaaccgagggagagaagaaa	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156764479G>T	ENST00000271526.4	+	5	1474	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	401					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGCAAGAGGAACCGAGGG	0.478			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1201-1203)aGg>aTg		papillary renal cell carcinoma (translocation-associated)							62	64	63					1																	156764479		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764479G>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1202G>T	1.37:g.156764479G>T	ENSP00000271526:p.Arg401Met					PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	p.R401M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			5	1474	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		401					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1202G>T	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956318|3.956318	0.73902|0.73902	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.059757	.|0.64402	.|D	.|0.000003	.|T	.|0.42966	.|0.1226	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.76494	.|0.999;0.991	.|P;P	.|0.59825	.|0.864;0.747	.|T	.|0.48614	.|-0.9020	.|10	.|0.66056	.|D	.|0.02	-14.926|-14.926	16.6585|16.6585	0.85235|0.85235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369;401	.|A6NG79;Q92733	.|.;PRCC_HUMAN	X|M	167|401;369;377;108	.|ENSP00000271526:R401M;ENSP00000339300:R369M;ENSP00000434762:R108M	.|ENSP00000271526:R401M	G|R	+|+	1|2	0|0	PRCC|PRCC	155031103|155031103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	6.798000|6.798000	0.75155|0.75155	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.478	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		8	203	1	0	1.06961e-07	1	1.11297e-07	8	203					T	156764479	G	T	156764479	3	4	79	1	0	0	0	0	1	0	0	0	12494	1000	35	3	1220	3	PRCC	1	156764479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49669	156764479	92486142	1245	11562											
SH2D2A	9047	broad.mit.edu	37	chr1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcagctgaggtttggCggggatgggaggcttgggcc	23	6	0	1	rs367900320		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000368199.3	-	7	904	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	251	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15171	0.0		0.0	False		,,,				2504	0.001					ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(781-783)Gcc>Acc		SH2 domain containing 2A		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	54	62	59		781,697,667,751,751	3	0.4	1		59	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SH2D2A	NM_001161441.1,NM_001161442.1,NM_001161443.1,NM_001161444.1,NM_003975.3	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	261/400,233/372,223/362,251/390,251/390	156779246	1,13005	2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779246C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.751G>A	1.37:g.156779246C>T	ENSP00000357182:p.Ala251Thr					SH2D2A_ENST00000368199.3_Missense_Mutation_p.A251T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	p.A261T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	920	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		251			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.781G>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312911	0.40895	2.27E-4	0.0	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60920	0.19;0.15;0.6	3.92	3.0	0.34707	.	0.769781	0.11950	N	0.513770	T	0.34193	0.0889	L	0.34521	1.04	0.21984	N	0.999432	D;D;D	0.61697	0.99;0.983;0.983	P;B;B	0.49192	0.602;0.397;0.397	T	0.05289	-1.0894	10	0.33141	T	0.24	-9.6279	9.5505	0.39306	0.0:0.8926:0.0:0.1074	.	261;233;251	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	251;233;261	ENSP00000357182:A251T;ENSP00000357181:A233T;ENSP00000376123:A261T	ENSP00000357181:A233T	A	-	1	0	SH2D2A	155045870	0.704000	0.27836	0.424000	0.26647	0.690000	0.40134	1.018000	0.30002	0.984000	0.38629	-0.266000	0.10368	GCC		0.637	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		104	480	0	0	0	1	0	104	480					T	156779246	C	T	156779246	3	4	79	1	0	0	0	0	1	0	0	0	14282	768	27	1	426	1	SH2D2A	1	156779246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14767	156779246	92471375	1246	11563											
INSRR	3645	broad.mit.edu	37	chr1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaggcgctgaagtactctgGattcacagaagcatacaggg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	958					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTACTCTGGATTCACAGAA	0.537																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2872-2874)Cca>Aca		insulin receptor-related receptor							162	167	165					1																	156813243		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156813243G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2872C>A	1.37:g.156813243G>T	ENSP00000357178:p.Pro958Thr					NTRK1_ENST00000392302.2_Intron	p.P958T	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			16	3268	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		958					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2872C>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524442	0.85600	.	.	ENSG00000027644	ENST00000368195	D	0.88975	-2.45	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000275	D	0.93654	0.7973	.	.	.	0.58432	D	0.999997	D	0.71674	0.998	D	0.74348	0.983	D	0.94153	0.7407	9	0.87932	D	0	.	16.0824	0.81014	0.0:0.0:1.0:0.0	.	958	P14616	INSRR_HUMAN	T	958	ENSP00000357178:P958T	ENSP00000357178:P958T	P	-	1	0	INSRR	155079867	1.000000	0.71417	0.880000	0.34516	0.970000	0.65996	6.042000	0.70996	2.649000	0.89929	0.591000	0.81541	CCA		0.537	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		196	984	1	0	3.38734e-80	1	4.33149e-80	196	984					T	156813243	G	T	156813243	3	4	79	1	0	0	0	0	1	0	0	0	7804	1174	41	3	1048	3	INSRR	1	156813243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33997	156813243	92437378	1247	11564											
INSRR	3645	broad.mit.edu	37	chr1	156819222	156819222	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccctagctgttgtaggttCtggttgtccagcacgtagag	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	420					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGTAGGTTCTGGTTGTCCA	0.622																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1258-1260)caG>caA		insulin receptor-related receptor							75	76	75					1																	156819222		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819222C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1260G>A	1.37:g.156819222C>T						NTRK1_ENST00000392302.2_Intron	p.Q420Q	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1656	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		420					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1260G>A	CCDS1160.1																																																																																				0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		28	610	0	0	0	1	0	28	610					T	156819222	C	T	156819222	2	4	79	1	0	0	0	0	0	0	0	1	7804	912	32	2		2	INSRR	1	156819222	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5979	156819222	92431399	1248	11565											
NTRK1	4914	broad.mit.edu	37	chr1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaccagctctccaacaCggaggtcagccccggcccat	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000524377.1	+	16	2242	c.2201C>T	c.(2200-2202)aCg>aTg	p.T734M	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000368196.3_Missense_Mutation_p.T728M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	CTCTCCAACACGGAGGTCAGC	0.622			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				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						c.(2182-2184)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						71	66	67					1																	156849945		2203	4300	6503	SO:0001583	missense	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.chr1:156849945C>T	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.2201C>T	1.37:g.156849945C>T	ENSP00000431418:p.Thr734Met	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.T734M|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M	p.T728M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2303	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		734			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.2183C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762238	0.49468	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.08	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108957	0.40908	D	0.000983	T	0.78407	0.4278	N	0.12502	0.225	0.45318	D	0.998313	P;B;D;D	0.89917	0.539;0.256;0.999;1.0	B;B;P;D	0.72075	0.164;0.041;0.807;0.976	T	0.82376	-0.0488	10	0.48119	T	0.1	.	15.3924	0.74755	0.0:1.0:0.0:0.0	.	731;728;734;698	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	698;728;734;731	ENSP00000376120:T698M;ENSP00000357179:T728M;ENSP00000431418:T734M;ENSP00000351486:T731M	ENSP00000351486:T731M	T	+	2	0	NTRK1	155116569	0.083000	0.21467	0.992000	0.48379	0.801000	0.45260	0.449000	0.21744	2.273000	0.75805	0.561000	0.74099	ACG		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		71	383	0	0	0	1	0	71	383					T	156849945	C	T	156849945	3	4	79	1	0	0	0	0	1	0	0	0	10748	536	19	1	2393	1	NTRK1	1	156849945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30723	156849945	92400676	1249	11566											
PEAR1	375033	broad.mit.edu	37	chr1	156876547	156876547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtctgcagcccccgaaCtgccttcagccctgtacccc	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	173					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(517-519)aaC>aaT		platelet endothelial aggregation receptor 1							140	121	127					1																	156876547		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156876547C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.519C>T	1.37:g.156876547C>T						PEAR1_ENST00000292357.7_Silent_p.N173N	p.N173N			Q5VY43	PEAR1_HUMAN			7	744	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		173					Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.519C>T	CCDS30892.1																																																																																				0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		149	475	0	0	0	1	0	149	475					T	156876547	C	T	156876547	2	4	79	1	0	0	0	0	0	0	0	1	11754	564	20	2		2	PEAR1	1	156876547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26602	156876547	92374074	1250	11567											
C1orf92	149499	broad.mit.edu	37	chr1	156897380	156897380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgcacagctgcaaccGgaccctcgtctcgctcaacc	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156897380G>A	ENST00000337428.7	+	7	909	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	252										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGCTGCAACCGGACCCTCGTC	0.652											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(754-756)cGg>cAg		leucine rich repeat containing 71							16	19	18					1																	156897380		2076	4204	6280	SO:0001583	missense	149499							g.chr1:156897380G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.755G>A	1.37:g.156897380G>A	ENSP00000336661:p.Arg252Gln		OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.R252Q	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			7	909	+			252					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.755G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083880	0.55861	.	.	ENSG00000160838	ENST00000337428	T	0.61980	0.06	4.48	3.53	0.40419	.	0.169451	0.28349	N	0.015667	T	0.14356	0.0347	N	0.03154	-0.405	0.28084	N	0.932077	B;B	0.30584	0.216;0.286	B;B	0.26094	0.066;0.057	T	0.06661	-1.0814	10	0.30078	T	0.28	-18.1532	6.3106	0.21163	0.2335:0.0:0.7665:0.0	.	252;37	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	Q	252	ENSP00000336661:R252Q	ENSP00000336661:R252Q	R	+	2	0	LRRC71	155164004	0.997000	0.39634	0.914000	0.36105	0.859000	0.49053	3.162000	0.50755	1.064000	0.40671	0.455000	0.32223	CGG		0.652	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		15	96	0	0	0	1	0	15	96					A	156897380	G	A	156897380	3	1	79	1	0	0	0	0	1	0	0	0	2076	1116	39	1	781	1	C1orf92	1	156897380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20833	156897380	92353241	1251	11568											
ARHGEF11	9826	broad.mit.edu	37	chr1	156906623	156906623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcctcagggcaggGccccagttcatggctgttcc	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156906623G>A	ENST00000361409.2	-	39	5237	c.4495C>T	c.(4495-4497)Ccc>Tcc	p.P1499S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.P1539S	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1499					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGGCAGGGCCCCAGTTCA	0.572																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(4615-4617)Ccc>Tcc		Rho guanine nucleotide exchange factor (GEF) 11							104	102	103					1																	156906623		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156906623G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4495C>T	1.37:g.156906623G>A	ENSP00000354644:p.Pro1499Ser					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1499S|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|ARHGEF11_ENST00000487682.1_5'UTR	p.P1539S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			40	5654	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1499					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.4615C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721709	0.15372	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.62941	-0.0;-0.01;0.08	4.72	-0.133	0.13485	.	0.607811	0.14696	N	0.303875	T	0.12263	0.0298	N	0.11560	0.145	0.09310	N	1	B;B;B	0.13145	0.007;0.004;0.007	B;B;B	0.09377	0.004;0.001;0.003	T	0.23797	-1.0178	10	0.17832	T	0.49	-1.6719	1.3528	0.02176	0.1244:0.1801:0.3282:0.3674	.	915;1499;1539	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	S	1539;1499;915	ENSP00000357177:P1539S;ENSP00000354644:P1499S;ENSP00000313470:P915S	ENSP00000313470:P915S	P	-	1	0	ARHGEF11	155173247	0.003000	0.15002	0.096000	0.21009	0.982000	0.71751	0.495000	0.22483	-0.211000	0.10124	-0.305000	0.09177	CCC		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		11	704	0	0	0	1	0	11	704					A	156906623	G	A	156906623	3	1	79	1	0	0	0	0	1	0	0	0	896	1203	42	2	81	2	ARHGEF11	1	156906623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9243	156906623	92343998	1252	11569											
ARHGEF11	9826	broad.mit.edu	37	chr1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcctgtttctgtagcaGcactaggaggtcctccagca	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000361409.2	-	31	3725	c.2983C>A	c.(2983-2985)Ctg>Atg	p.L995M	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1035M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	995	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(3103-3105)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 11							111	101	105					1																	156913859		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156913859G>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2983C>A	1.37:g.156913859G>T	ENSP00000354644:p.Leu995Met					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.L995M|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000487682.1_5'UTR	p.L1035M	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			32	4142	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		995			PH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.3103C>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736121	0.69189	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	1.18	0.20946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.42682	D	0.000677	T	0.75649	0.3878	M	0.88775	2.98	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77208	-0.2672	10	0.72032	D	0.01	-11.0609	8.5813	0.33630	0.3803:0.0:0.6197:0.0	.	411;995;1035	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1035;995;411	ENSP00000357177:L1035M;ENSP00000354644:L995M;ENSP00000313470:L411M	ENSP00000313470:L411M	L	-	1	2	ARHGEF11	155180483	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.756000	0.47549	0.345000	0.23873	0.561000	0.74099	CTG		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		76	446	1	0	3.30373e-36	1	3.95205e-36	76	446					T	156913859	G	T	156913859	3	4	79	1	0	0	0	0	1	0	0	0	896	962	34	3	1625	3	ARHGEF11	1	156913859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7236	156913859	92336762	1253	11570											
ARHGEF11	9826	broad.mit.edu	37	chr1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcatcttcgctgttccGcaggcgcgagtctgtagtgg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000361409.2	-	15	1916	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R432W	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	392	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1294-1296)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 11							71	61	65					1																	156928923		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928923G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1174C>T	1.37:g.156928923G>A	ENSP00000354644:p.Arg392Trp					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R392W	p.R432W	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			16	2333	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		392			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1294C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456397	0.43634	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.82803	-1.65;-1.65	4.69	3.78	0.43462	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000108	T	0.80649	0.4663	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.984	T	0.80393	-0.1401	10	0.38643	T	0.18	-19.5508	11.0799	0.48053	0.0875:0.0:0.9125:0.0	.	392;432	O15085;O15085-2	ARHGB_HUMAN;.	W	432;392	ENSP00000357177:R432W;ENSP00000354644:R392W	ENSP00000354644:R392W	R	-	1	2	ARHGEF11	155195547	1.000000	0.71417	0.810000	0.32431	0.027000	0.11550	7.354000	0.79424	1.204000	0.43247	0.491000	0.48974	CGG		0.577	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		38	135	0	0	0	1	0	38	135					A	156928923	G	A	156928923	3	1	79	1	0	0	0	0	1	0	0	0	896	1086	38	1	3498	1	ARHGEF11	1	156928923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15064	156928923	92321698	1254	11571											
ARHGEF11	9826	broad.mit.edu	37	chr1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgagctggccgagActtcagtttctccagatcct	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000361409.2	-	12	1697	c.955T>G	c.(955-957)Tct>Gct	p.S319A	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S359A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	319	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1075-1077)Tct>Gct		Rho guanine nucleotide exchange factor (GEF) 11							57	58	57					1																	156933060		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156933060A>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.955T>G	1.37:g.156933060A>C	ENSP00000354644:p.Ser319Ala					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S319A	p.S359A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			13	2114	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		319			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1075T>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616613	0.46736	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.83673	-1.75;-1.75	5.56	3.1	0.35709	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.290213	0.24604	N	0.037108	T	0.62380	0.2423	L	0.47016	1.485	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63778	-0.6560	10	0.54805	T	0.06	-7.3991	6.1864	0.20500	0.4942:0.2718:0.0:0.234	.	319;359	O15085;O15085-2	ARHGB_HUMAN;.	A	359;319	ENSP00000357177:S359A;ENSP00000354644:S319A	ENSP00000354644:S319A	S	-	1	0	ARHGEF11	155199684	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.504000	0.35726	0.938000	0.37419	0.533000	0.62120	TCT		0.537	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		13	165	0	0	0	1	0	13	165					C	156933060	A	C	156933060	3	2	79	1	0	0	0	0	1	0	0	0	896	275	10	4	3729	4	ARHGEF11	1	156933060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4137	156933060	92317561	1255	11572											
ETV3L	440695	broad.mit.edu	37	chr1	157069139	157069139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcctggggacgactcGgctttgtaggcccaatcagg	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	30					cell differentiation (GO:0030154)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(88-90)gcC>gcT		ets variant 3-like							48	49	48					1																	157069139		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157069139G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.90C>T	1.37:g.157069139G>A							p.A30A	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			2	374	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	30						Silent	SNP	ENST00000454449.2	37	c.90C>T	CCDS30893.1																																																																																				0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		111	196	0	0	0	1	0	111	196					A	157069139	G	A	157069139	2	1	79	1	0	0	0	0	0	0	0	1	5298	1103	39	1		1	ETV3L	1	157069139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136079	157069139	92181482	1256	11573											
FCRL5	83416	broad.mit.edu	37	chr1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtttaaggacgctcctccaGagggggacgacctatttcct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	800	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTCCTCCAGAGGGGGACGA	0.577																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2398-2400)tCt>tTt		Fc receptor-like 5							76	82	80					1																	157490923		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490923G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2399C>T	1.37:g.157490923G>A	ENSP00000354691:p.Ser800Phe					FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2556	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	800			Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2399C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747371	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.15017	2.46;2.46	5.34	-0.515	0.11954	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	20.103400	0.00639	U	0.000514	T	0.09949	0.0244	L	0.53249	1.67	0.54753	D	0.999981	P;P	0.51351	0.858;0.944	B;P	0.51550	0.326;0.673	T	0.56329	-0.7997	10	0.17369	T	0.5	.	2.7429	0.05258	0.3224:0.0:0.3374:0.3402	.	800;800	A6NJE8;Q96RD9	.;FCRL5_HUMAN	F	800	ENSP00000354691:S800F;ENSP00000349434:S800F	ENSP00000349434:S800F	S	-	2	0	FCRL5	155757547	0.001000	0.12720	0.861000	0.33841	0.509000	0.34042	0.176000	0.16782	0.030000	0.15379	0.650000	0.86243	TCT		0.577	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		98	512	0	0	0	1	0	98	512					A	157490923	G	A	157490923	3	1	79	1	0	0	0	0	1	0	0	0	5823	942	33	2	562	2	FCRL5	1	157490923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421784	157490923	91759698	1257	11574											
FCRL5	83416	broad.mit.edu	37	chr1	157494130	157494130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccattgtctgcctcacaGgagtagattccagaatgttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000368190.3_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCCTCACAGGAGTAGATTC	0.542																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2176-2178)tcC>tcA		Fc receptor-like 5							63	68	66					1																	157494130		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494130G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2178C>A	1.37:g.157494130G>T						FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368190.3_Silent_p.S726S	p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			10	2335	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	726			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2178C>A	CCDS1165.1																																																																																				0.542	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		138	340	1	0	2.44438e-75	1	3.11652e-75	138	340					T	157494130	G	T	157494130	2	4	79	1	0	0	0	0	0	0	0	1	5823	987	35	3		3	FCRL5	1	157494130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3207	157494130	91756491	1258	11575											
FCRL5	83416	broad.mit.edu	37	chr1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgggggagagcctctcGgggcctcacagtgaagctcc	16	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.P590L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592																																						ENST00000361835.3																			1	Substitution - Missense(1)	p.P590L(1)	kidney(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1768-1770)cCg>cTg		Fc receptor-like 5							50	54	52					1																	157497598		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497598G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1769C>T	1.37:g.157497598G>A	ENSP00000354691:p.Pro590Leu					FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			9	1926	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	590			Ig-like C2-type 6.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1769C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	FCRL5	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG		0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		96	397	0	0	0	1	0	96	397					A	157497598	G	A	157497598	3	1	79	1	0	0	0	0	1	0	0	0	5823	1116	39	1	1200	1	FCRL5	1	157497598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	157497598	91753023	1259	11576											
FCRL5	83416	broad.mit.edu	37	chr1	157504525	157504525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggacactcttcccacagaGggtgttgagctgctccacag	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368190.3_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	520	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCCCACAGAGGGTGTTGAGC	0.512																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1558-1560)ccC>ccA		Fc receptor-like 5							61	60	60					1																	157504525		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504525G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1560C>A	1.37:g.157504525G>T						FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368190.3_Silent_p.P520P	p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1717	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	520			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.1560C>A	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		39	194	1	0	6.97489e-18	1	7.71847e-18	39	194					T	157504525	G	T	157504525	2	4	79	1	0	0	0	0	0	0	0	1	5823	987	35	3		3	FCRL5	1	157504525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6927	157504525	91746096	1260	11577											
FCRL5	83416	broad.mit.edu	37	chr1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctctgaagaagcggaacCggagcgggacatctgacctc	12	12	2	3	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0					ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(673-675)cGg>cAg		Fc receptor-like 5		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106	112	110		674,674	-3.4	0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514222C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.674G>A	1.37:g.157514222C>T	ENSP00000354691:p.Arg225Gln					FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	831	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	225			Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.674G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		143	714	0	0	0	1	0	143	714					T	157514222	C	T	157514222	3	4	79	1	0	0	0	0	1	0	0	0	5823	652	23	1	2311	1	FCRL5	1	157514222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9697	157514222	91736399	1261	11578											
FCRL4	83417	broad.mit.edu	37	chr1	157551412	157551412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcccgcggcgacaagGccatctctgttgcctggggt	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1156-1158)ggC>ggT		Fc receptor-like 4							42	42	42					1																	157551412		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551412G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1158C>T	1.37:g.157551412G>A						FCRL4_ENST00000448509.2_5'UTR	p.G386G	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1293	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	386					Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1158C>T	CCDS1166.1																																																																																				0.582	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		60	146	0	0	0	1	0	60	146					A	157551412	G	A	157551412	2	1	79	1	0	0	0	0	0	0	0	1	5822	1190	42	2		2	FCRL4	1	157551412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37190	157551412	91699209	1262	11579											
FCRL3	115352	broad.mit.edu	37	chr1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctgggccccgggagCcctgagggtgaggacggggc	19	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	482	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCCCGGGAGCCCTGAGGGTG	0.537																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1444-1446)Gct>Act		Fc receptor-like 3							39	43	42					1																	157660291		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157660291C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1444G>A	1.37:g.157660291C>T	ENSP00000357167:p.Ala482Thr					FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T	p.A482T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			9	1735	-	all_hematologic(112;0.0378)		482			Ig-like C2-type 6.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1444G>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	4.823	0.153079	0.09185	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03301	3.98;3.98	4.21	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.517600	0.04711	N	0.417545	T	0.01558	0.0050	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30526	0.283;0.225;0.24	B;B;B	0.40329	0.326;0.18;0.219	T	0.48293	-0.9048	10	0.35671	T	0.21	.	2.5846	0.04827	0.1317:0.5025:0.1644:0.2014	.	482;387;482	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	482	ENSP00000357169:A482T;ENSP00000357167:A482T	ENSP00000292392:A482T	A	-	1	0	FCRL3	155926915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	-0.174000	0.10743	0.655000	0.94253	GCT		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		115	360	0	0	0	1	0	115	360					T	157660291	C	T	157660291	3	4	79	1	0	0	0	0	1	0	0	0	5821	739	26	2	788	2	FCRL3	1	157660291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108879	157660291	91590330	1263	11580											
FCRL3	115352	broad.mit.edu	37	chr1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagcccaatccgaggGtctggctatctctgaagagg	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	234	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAATCCGAGGGTCTGGCTATC	0.582																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(700-702)aCc>aTc		Fc receptor-like 3							92	92	92					1																	157667073		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667073G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.701C>T	1.37:g.157667073G>A	ENSP00000357167:p.Thr234Ile					FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I	p.T234I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			6	992	-	all_hematologic(112;0.0378)		234			Ig-like C2-type 3.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.701C>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248244	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12255	2.7;2.7	5.54	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.119430	0.00597	N	0.000368	T	0.02342	0.0072	L	0.38733	1.17	0.09310	N	1	B;B	0.28713	0.057;0.22	B;B	0.29663	0.105;0.092	T	0.28618	-1.0038	10	0.10111	T	0.7	.	1.2899	0.02058	0.3018:0.2438:0.3299:0.1245	.	234;234	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	234	ENSP00000357169:T234I;ENSP00000357167:T234I	ENSP00000292392:T234I	T	-	2	0	FCRL3	155933697	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.179000	0.03090	-0.205000	0.10219	0.491000	0.48974	ACC		0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		119	392	0	0	0	1	0	119	392					A	157667073	G	A	157667073	3	1	79	1	0	0	0	0	1	0	0	0	5821	1261	44	2	1543	2	FCRL3	1	157667073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6782	157667073	91583548	1264	11581											
FCRL1	115350	broad.mit.edu	37	chr1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctatttttcttttgaggCcgtagcaaaataataaggcc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			TCTTTTGAGGCCGTAGCAAAA	0.443																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(985-987)gGc>gAc		Fc receptor-like 1							72	73	73					1																	157771268		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771268C>T	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.986G>A	1.37:g.157771268C>T	ENSP00000357158:p.Gly329Asp					FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron	p.G329D	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1053	-	all_hematologic(112;0.0378)		329					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.986G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868592	0.32977	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.38077	1.16;1.19	5.35	4.43	0.53597	.	1.011940	0.07905	N	0.973270	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	0.99999	D;P	0.55172	0.97;0.627	P;B	0.50825	0.651;0.184	T	0.02417	-1.1162	10	0.32370	T	0.25	.	9.2445	0.37518	0.0:0.9058:0.0:0.0942	.	329;329	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	D	329	ENSP00000357158:G329D;ENSP00000418130:G329D	ENSP00000357158:G329D	G	-	2	0	FCRL1	156037892	0.574000	0.26684	0.864000	0.33941	0.132000	0.20833	1.796000	0.38794	2.941000	0.99782	0.655000	0.94253	GGC		0.443	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		74	378	0	0	0	1	0	74	378					T	157771268	C	T	157771268	3	4	79	1	0	0	0	0	1	0	0	0	5819	739	26	2	393	2	FCRL1	1	157771268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104195	157771268	91479353	1265	11582											
CD5L	922	broad.mit.edu	37	chr1	157804531	157804531	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggactggggagaaagagctCtctgggtctgaggggaaaga	19	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	128					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAAAGAGCTCTCTGGGTCTG	0.562																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(382-384)gaG>gaA		CD5 molecule-like							56	59	58					1																	157804531		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804531C>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.384G>A	1.37:g.157804531C>T							p.E128E	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	480	-	all_hematologic(112;0.0378)		128					A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.384G>A	CCDS1171.1																																																																																				0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		107	299	0	0	0	1	0	107	299					T	157804531	C	T	157804531	2	4	79	1	0	0	0	0	0	0	0	1	3036	912	32	2		2	CD5L	1	157804531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33263	157804531	91446090	1266	11583											
KIRREL	55243	broad.mit.edu	37	chr1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagccactcgattctcctAcacctcccagcactcggact	5	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000359209.6	+	15	2280	c.2213A>G	c.(2212-2214)tAc>tGc	p.Y738C	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000368172.1_Missense_Mutation_p.Y552C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	738					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1654-1656)tAc>tGc		kin of IRRE like (Drosophila)							46	41	43					1																	158064849		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064849A>G	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2213A>G	1.37:g.158064849A>G	ENSP00000352138:p.Tyr738Cys					KIRREL_ENST00000359209.6_Missense_Mutation_p.Y738C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C	p.Y552C			Q96J84	KIRR1_HUMAN			11	1667	+	all_hematologic(112;0.0378)		738					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1655A>G	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111895	0.77210	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;D;D;D;D;T	0.86497	-1.15;-2.13;-1.55;-1.74;-1.68;-1.37	5.0	5.0	0.66597	.	0.000000	0.39274	N	0.001417	D	0.85890	0.5802	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	D	0.87188	0.2232	10	0.45353	T	0.12	-20.5602	12.6627	0.56824	1.0:0.0:0.0:0.0	.	638;574;552;738	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	574;754;635;738;638;552	ENSP00000353202:Y574C;ENSP00000357155:Y754C;ENSP00000376098:Y635C;ENSP00000352138:Y738C;ENSP00000389674:Y638C;ENSP00000357154:Y552C	ENSP00000352138:Y738C	Y	+	2	0	KIRREL	156331473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	1.881000	0.54492	0.459000	0.35465	TAC		0.652	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		41	123	0	0	0	1	0	41	123					G	158064849	A	G	158064849	3	3	79	1	0	0	0	0	1	0	0	0	8354	391	14	4	2271	4	KIRREL	1	158064849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260318	158064849	91185772	1267	11584											
CD1D	912	broad.mit.edu	37	chr1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcgggtgaagcacaGcagtctagagggccaggaca	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	284	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGAAGCACAGCAGTCTAGAG	0.607																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(850-852)aGc>aAc		CD1d molecule							89	80	83					1																	158152911		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152911G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.851G>A	1.37:g.158152911G>A	ENSP00000357153:p.Ser284Asn						p.S284N	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1350	+	all_hematologic(112;0.0378)		284			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.851G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915095	0.73098	.	.	ENSG00000158473	ENST00000368171	T	0.03124	4.04	5.3	3.42	0.39159	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.64402	D	0.000012	T	0.12178	0.0296	M	0.94021	3.485	0.30875	N	0.732041	D	0.71674	0.998	D	0.78314	0.991	T	0.06607	-1.0817	10	0.87932	D	0	-21.1727	8.3195	0.32121	0.185:0.0:0.815:0.0	.	284	P15813	CD1D_HUMAN	N	284	ENSP00000357153:S284N	ENSP00000357153:S284N	S	+	2	0	CD1D	156419535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.371000	0.59523	0.722000	0.32252	0.655000	0.94253	AGC		0.607	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		13	424	0	0	0	1	0	13	424					A	158152911	G	A	158152911	3	1	79	1	0	0	0	0	1	0	0	0	2986	971	34	2	865	2	CD1D	1	158152911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88062	158152911	91097710	1268	11585											
CD1A	909	broad.mit.edu	37	chr1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttcctgtgcccctggTccaggggaaacttcagcaat	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	71				WS -> V (in Ref. 7; AAA51933). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(211-213)Tcc>Ccc		CD1a molecule	Antithymocyte globulin(DB00098)						107	101	103					1																	158225026		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225026T>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.211T>C	1.37:g.158225026T>C	ENSP00000289429:p.Ser71Pro						p.S71P	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			2	744	+	all_hematologic(112;0.0378)		71	WS -> V (in Ref. 7; AAA51933).				D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.211T>C	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327550	0.41197	.	.	ENSG00000158477	ENST00000289429	T	0.00724	5.78	4.54	3.38	0.38709	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.218281	0.23492	N	0.047600	T	0.01940	0.0061	M	0.87097	2.86	0.26685	N	0.971464	D	0.89917	1.0	D	0.83275	0.996	T	0.29971	-0.9994	10	0.87932	D	0	-18.9009	7.5545	0.27817	0.0:0.0:0.2395:0.7605	.	71	P06126	CD1A_HUMAN	P	71	ENSP00000289429:S71P	ENSP00000289429:S71P	S	+	1	0	CD1A	156491650	0.922000	0.31269	0.984000	0.44739	0.074000	0.17049	0.422000	0.21296	1.911000	0.55334	0.477000	0.44152	TCC		0.488	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		89	280	0	0	0	1	0	89	280					C	158225026	T	C	158225026	3	2	79	1	0	0	0	0	1	0	0	0	2983	1667	58	4	217	4	CD1A	1	158225026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72115	158225026	91025595	1269	11586											
CD1A	909	broad.mit.edu	37	chr1	158226772	158226772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctccgcgcaaccctggaGgtggccgctggggaggcagc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158226772G>T	ENST00000289429.5	+	4	1334	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	267	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAACCCTGGAGGTGGCCGCTG	0.622																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(799-801)gaG>gaT		CD1a molecule	Antithymocyte globulin(DB00098)						88	82	84					1																	158226772		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226772G>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.801G>T	1.37:g.158226772G>T	ENSP00000289429:p.Glu267Asp						p.E267D	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1334	+	all_hematologic(112;0.0378)		267			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.801G>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292564	0.00245	.	.	ENSG00000158477	ENST00000289429	T	0.03242	4.0	3.84	-3.71	0.04424	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.522691	0.16162	N	0.226714	T	0.00271	0.0008	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.02654	T	1	-11.0955	2.3388	0.04254	0.1334:0.0943:0.2953:0.4769	.	267	P06126	CD1A_HUMAN	D	267	ENSP00000289429:E267D	ENSP00000289429:E267D	E	+	3	2	CD1A	156493396	0.116000	0.22171	0.099000	0.21106	0.162000	0.22319	-0.156000	0.10100	-0.858000	0.04110	-1.495000	0.00966	GAG		0.622	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		15	560	1	0	5.01169e-05	1	5.1097e-05	15	560					T	158226772	G	T	158226772	3	4	79	1	0	0	0	0	1	0	0	0	2983	991	35	3	815	3	CD1A	1	158226772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1746	158226772	91023849	1270	11587											
CD1C	911	broad.mit.edu	37	chr1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctttggattaactcGggagattcaagaccatgcaa	8	10	2	2	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(289-291)cGg>cAg		CD1c molecule		G	GLN/ARG	11,4395		0,11,2192	97	95	96		290	-2.2	0	1	dbSNP_132	96	2,8598		0,2,4298	yes	missense	CD1C	NM_001765.2	43	0,13,6490	AA,AG,GG		0.0233,0.2497,0.1	benign	97/334	158261152	13,12993	2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261152G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.290G>A	1.37:g.158261152G>A	ENSP00000357152:p.Arg97Gln						p.R97Q	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	569	+	all_hematologic(112;0.0378)		97					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.290G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	5.842	0.339525	0.11069	0.002497	2.33E-4	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.16897	2.31	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.02455	0.0075	N	0.20986	0.625	0.09310	N	1	B	0.23990	0.095	B	0.12156	0.007	T	0.42732	-0.9434	10	0.21014	T	0.42	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	Q	97	ENSP00000357152:R97Q	ENSP00000357151:R97Q	R	+	2	0	CD1C	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG		0.363	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		124	347	0	0	0	1	0	124	347					A	158261152	G	A	158261152	3	1	79	1	0	0	0	0	1	0	0	0	2985	1116	39	1	296	1	CD1C	1	158261152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34380	158261152	90989469	1271	11588											
CD1B	910	broad.mit.edu	37	chr1	158299257	158299257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacatccagggttgctcgGagataccatgtccagttagc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	263	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(787-789)ctC>ctT		CD1b molecule							125	113	117					1																	158299257		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299257G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.789C>T	1.37:g.158299257G>A							p.L263L	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	896	-	all_hematologic(112;0.0378)		263			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.789C>T	CCDS1176.1																																																																																				0.597	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		116	581	0	0	0	1	0	116	581					A	158299257	G	A	158299257	2	1	79	1	0	0	0	0	0	0	0	1	2984	1161	41	2		2	CD1B	1	158299257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38105	158299257	90951364	1272	11589											
CD1B	910	broad.mit.edu	37	chr1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaatcctcctagagctcCcctcaggaagcttactatgg	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	134					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(400-402)Gga>Tga		CD1b molecule							172	175	174					1																	158299849		2203	4300	6503	SO:0001587	stop_gained	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299849C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.400G>T	1.37:g.158299849C>A	ENSP00000357150:p.Gly134*						p.G134*	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	507	-	all_hematologic(112;0.0378)		134					Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	37	c.400G>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696383|3.696383	0.68386|0.68386	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|.	.|.	.|.	4.16|4.16	3.25|3.25	0.37280|0.37280	.|.	0.499782|0.499782	0.17023|0.17023	N|N	0.190023|0.190023	T|.	0.24812|.	0.0602|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07986|.	-1.0744|.	4|.	.|0.26408	.|T	.|0.33	0.004|0.004	7.9556|7.9556	0.30040|0.30040	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	.|.	.|.	.|.	V|X	101|134	.|.	.|ENSP00000357150:G134X	G|G	-|-	2|1	0|0	CD1B|CD1B	156566473|156566473	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.064000|0.064000	0.16182|0.16182	0.981000|0.981000	0.29526|0.29526	1.095000|1.095000	0.41419|0.41419	-0.136000|-0.136000	0.14681|0.14681	GGG|GGA		0.493	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		305	857	1	0	4.54041e-115	1	5.84573e-115	305	857					A	158299849	C	A	158299849	4	1	79	1	0	0	0	0	0	1	0	0	2984	632	22	3	617	3	CD1B	1	158299849	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	158299849	90950772	1273	11590											
CD1B	910	broad.mit.edu	37	chr1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcttaccatgttcactgTtaccaccaggaaagagaaca	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	17					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(49-51)aAc>aGc		CD1b molecule							85	76	79					1																	158301164		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158301164T>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.50A>G	1.37:g.158301164T>C	ENSP00000357150:p.Asn17Ser						p.N17S	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			1	157	-	all_hematologic(112;0.0378)		17					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.50A>G	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	T	5.734	0.319814	0.10845	.	.	ENSG00000158485	ENST00000368168	T	0.01252	5.1	3.14	1.98	0.26296	.	0.801389	0.10160	N	0.708393	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.24541	0.054;0.004	T	0.35525	-0.9785	10	0.24483	T	0.36	-7.4059	4.6335	0.12513	0.0:0.1632:0.0:0.8368	.	17;17	B4E0D2;P29016	.;CD1B_HUMAN	S	17	ENSP00000357150:N17S	ENSP00000357150:N17S	N	-	2	0	CD1B	156567788	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.552000	0.23376	0.569000	0.29329	0.528000	0.53228	AAC		0.478	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		61	144	0	0	0	1	0	61	144					C	158301164	T	C	158301164	3	2	79	1	0	0	0	0	1	0	0	0	2984	1725	60	4	975	4	CD1B	1	158301164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1315	158301164	90949457	1274	11591											
CD1E	913	broad.mit.edu	37	chr1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgctgacgagacatggTatctccgagcaaccctggat	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000368167.3	+	4	1041	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	268	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(505-507)Tat>Cat		CD1e molecule							108	107	107					1																	158325793		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325793T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.802T>C	1.37:g.158325793T>C	ENSP00000357149:p.Tyr268His					CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000368167.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H	p.Y169H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	798	+	all_hematologic(112;0.0378)		268					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.505T>C	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235311|2.235311	0.39498|0.39498	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368164;ENST00000368161;ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	.|T;T;T;T;T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53;4.18;2.53;2.53;4.18	4.38|4.38	3.23|3.23	0.37069|0.37069	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.371926	.|0.19941	.|N	.|0.102654	.|T	.|0.15609	.|0.0376	M|M	0.72894|0.72894	2.215|2.215	0.25800|0.25800	N|N	0.984516|0.984516	.|D;P;D;P;P;P;P;D;P;D;P	.|0.58268	.|0.958;0.953;0.982;0.951;0.659;0.549;0.896;0.981;0.953;0.97;0.871	.|P;P;P;P;D;P;P;P;D;D;P	.|0.65987	.|0.895;0.872;0.863;0.863;0.94;0.868;0.774;0.864;0.926;0.931;0.826	.|T	.|0.06445	.|-1.0826	.|10	.|0.31617	.|T	.|0.26	.|-3.3614	7.8875|7.8875	0.29659|0.29659	0.0:0.0:0.21:0.79|0.0:0.0:0.21:0.79	.|.	.|79;169;266;268;169;178;79;268;268;79;178	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	.|H	-1|266;169;268;79;178;79;268;178	.|ENSP00000401957:Y266H;ENSP00000402906:Y169H;ENSP00000357149:Y268H;ENSP00000416228:Y79H;ENSP00000357147:Y178H;ENSP00000357148:Y79H;ENSP00000357142:Y268H;ENSP00000357138:Y178H	.|ENSP00000357138:Y178H	.|Y	+|+	.|1	.|0	CD1E|CD1E	156592417|156592417	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.697000|0.697000	0.40408|0.40408	2.127000|2.127000	0.42035|0.42035	0.706000|0.706000	0.31912|0.31912	0.460000|0.460000	0.39030|0.39030	.|TAT		0.602	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		41	600	0	0	0	1	0	41	600					C	158325793	T	C	158325793	3	2	79	1	0	0	0	0	1	0	0	0	2987	1652	57	4	816	4	CD1E	1	158325793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24629	158325793	90924828	1275	11592											
OR10T2	128360	broad.mit.edu	37	chr1	158368954	158368954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaggaaaaagaacagCtgggtggcacaggccatgaa	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAAGAACAGCTGGGTGGCAC	0.502																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(301-303)caG>caA		olfactory receptor, family 10, subfamily T, member 2							104	106	105					1																	158368954		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368954C>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.303G>A	1.37:g.158368954C>T							p.Q101Q	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	302	-	all_hematologic(112;0.0378)		101					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.303G>A	CCDS30895.1																																																																																				0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		25	298	0	0	0	1	0	25	298					T	158368954	C	T	158368954	2	4	79	1	0	0	0	0	0	0	0	1	10961	796	28	2		2	OR10T2	1	158368954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43161	158368954	90881667	1276	11593											
OR10R2	343406	broad.mit.edu	37	chr1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcttcttccttggttTtgccattaccaactgcctgc	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCCTTGGTTTTGCCATTACC	0.463																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(379-381)tTt>tCt		olfactory receptor, family 10, subfamily R, member 2							385	326	346					1																	158450047		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450047T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.380T>C	1.37:g.158450047T>C	ENSP00000357134:p.Phe127Ser					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.F127S	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	380	+	all_hematologic(112;0.0378)		127					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.380T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.243493	0.58995	.	.	ENSG00000198965	ENST00000368152	T	0.01287	5.05	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	M	0.65677	2.01	0.24736	N	0.993066	D	0.76494	0.999	D	0.68943	0.961	T	0.27468	-1.0073	9	0.72032	D	0.01	.	12.8873	0.58051	0.0:0.0:0.0:1.0	.	127	Q8NGX6	O10R2_HUMAN	S	127	ENSP00000357134:F127S	ENSP00000357134:F127S	F	+	2	0	OR10R2	156716671	0.003000	0.15002	0.999000	0.59377	0.937000	0.57800	0.917000	0.28665	1.847000	0.53656	0.533000	0.62120	TTT		0.463	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		384	1146	0	0	0	1	0	384	1146					C	158450047	T	C	158450047	3	2	79	1	0	0	0	0	1	0	0	0	10959	1841	64	4	382	4	OR10R2	1	158450047	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81093	158450047	90800574	1277	11594											
OR10R2	343406	broad.mit.edu	37	chr1	158450303	158450303	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcttgtaccaacacAgatgttaacgaatttgtgat	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450303A>C	ENST00000368152.1	+	1	636	c.636A>C	c.(634-636)acA>acC	p.T212T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTACCAACACAGATGTTAACG	0.383																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(634-636)acA>acC		olfactory receptor, family 10, subfamily R, member 2							162	153	156					1																	158450303		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450303A>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.636A>C	1.37:g.158450303A>C						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.T212T	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	636	+	all_hematologic(112;0.0378)		212					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.636A>C	CCDS30898.1																																																																																				0.383	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		14	908	0	0	0	1	0	14	908					C	158450303	A	C	158450303	2	2	79	1	0	0	0	0	0	0	0	1	10959	175	7	4		4	OR10R2	1	158450303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	256	158450303	90800318	1278	11595											
OR6Y1	391112	broad.mit.edu	37	chr1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccatcttaatcatggcaGtcatgagtccacagaaccag	7	11	3	2	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AATCATGGCAGTCATGAGTCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		23831	0.0		0.001	False		,,,				2504	0.0					ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(478-480)aCt>aTt		olfactory receptor, family 6, subfamily Y, member 1		G	ILE/THR	0,4406		0,0,2203	52	46	48		479	3.4	0.6	1	dbSNP_134	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6Y1	NM_001005189.1	89	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/326	158517417	4,13002	2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517417G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.479C>T	1.37:g.158517417G>A	ENSP00000304807:p.Thr160Ile						p.T160I	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	478	-	all_hematologic(112;0.0378)		160					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.479C>T	CCDS30899.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.94	1.787184	0.31593	0.0	4.65E-4	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.13200	0.0320	N	0.02296	-0.605	0.22684	N	0.998854	D	0.71674	0.998	D	0.66847	0.947	T	0.07309	-1.0779	10	0.26408	T	0.33	.	7.1526	0.25618	0.1503:0.1458:0.7039:0.0	.	160	Q8NGX8	OR6Y1_HUMAN	I	160	ENSP00000304807:T160I	ENSP00000304807:T160I	T	-	2	0	OR6Y1	156784041	0.000000	0.05858	0.554000	0.28268	0.998000	0.95712	-0.056000	0.11787	1.466000	0.48025	0.655000	0.94253	ACT		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		30	176	0	0	0	1	0	30	176					A	158517417	G	A	158517417	3	1	79	1	0	0	0	0	1	0	0	0	11255	1029	36	2	500	2	OR6Y1	1	158517417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67114	158517417	90733204	1279	11596											
OR6Y1	391112	broad.mit.edu	37	chr1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatggctacatagcggTcaaaggccatgatagcaaga	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(376-378)gAc>gGc		olfactory receptor, family 6, subfamily Y, member 1							117	100	106					1																	158517519		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517519T>C	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.377A>G	1.37:g.158517519T>C	ENSP00000304807:p.Asp126Gly						p.D126G	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	376	-	all_hematologic(112;0.0378)		126					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.377A>G	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813517	0.70912	.	.	ENSG00000197532	ENST00000302617	T	0.18174	2.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000551	T	0.51109	0.1655	H	0.97962	4.115	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.70502	-0.4854	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.0:0.0:1.0	.	126	Q8NGX8	OR6Y1_HUMAN	G	126	ENSP00000304807:D126G	ENSP00000304807:D126G	D	-	2	0	OR6Y1	156784143	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.709000	0.84645	2.176000	0.68965	0.460000	0.39030	GAC		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		99	296	0	0	0	1	0	99	296					C	158517519	T	C	158517519	3	2	79	1	0	0	0	0	1	0	0	0	11255	1667	58	4	602	4	OR6Y1	1	158517519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102	158517519	90733102	1280	11597											
OR6Y1	391112	broad.mit.edu	37	chr1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggctcaagaagaagtAcatgggcttatgcagctgcc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAAGAAGTACATGGGCTTA	0.463																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(193-195)Tac>Cac		olfactory receptor, family 6, subfamily Y, member 1							79	74	76					1																	158517703		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517703A>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.193T>C	1.37:g.158517703A>G	ENSP00000304807:p.Tyr65His						p.Y65H	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	192	-	all_hematologic(112;0.0378)		65					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.193T>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165016	0.78339	.	.	ENSG00000197532	ENST00000302617	T	0.15487	2.42	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001739	T	0.47544	0.1451	H	0.96633	3.855	0.45777	D	0.998663	D	0.89917	1.0	D	0.68943	0.961	T	0.66268	-0.5966	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	65	Q8NGX8	OR6Y1_HUMAN	H	65	ENSP00000304807:Y65H	ENSP00000304807:Y65H	Y	-	1	0	OR6Y1	156784327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.948000	0.93006	2.176000	0.68965	0.460000	0.39030	TAC		0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		61	211	0	0	0	1	0	61	211					G	158517703	A	G	158517703	3	3	79	1	0	0	0	0	1	0	0	0	11255	391	14	4	786	4	OR6Y1	1	158517703	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	158517703	90732918	1281	11598											
OR10X1	128367	broad.mit.edu	37	chr1	158548724	158548724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattattttttcaaggcAactgtgtttcccatcattct	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(964-966)gtT>gtC		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							144	149	147					1																	158548724		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548724A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.966T>C	1.37:g.158548724A>G							p.V322V	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	965	-	all_hematologic(112;0.0378)		322					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.966T>C	CCDS30900.1																																																																																				0.428	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		196	967	0	0	0	1	0	196	967					G	158548724	A	G	158548724	2	3	79	1	0	0	0	0	0	0	0	1	10964	117	5	4		4	OR10X1	1	158548724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31021	158548724	90701897	1282	11599											
OR10X1	128367	broad.mit.edu	37	chr1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagggggtaatgacagTataagggactgctatgagtg	17	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAATGACAGTATAAGGGACT	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(874-876)Act>Gct		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							107	111	110					1																	158548816		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548816T>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.874A>G	1.37:g.158548816T>C	ENSP00000357132:p.Thr292Ala						p.T292A	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	873	-	all_hematologic(112;0.0378)		292					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.874A>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419284	0.62622	.	.	ENSG00000186400	ENST00000368150	T	0.00235	8.48	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000119	T	0.00241	0.0007	M	0.66297	2.02	0.27388	N	0.955216	D	0.76494	0.999	D	0.87578	0.998	T	0.50363	-0.8837	10	0.48119	T	0.1	.	13.2141	0.59849	0.0:0.0:0.0:1.0	.	292	Q8NGY0	O10X1_HUMAN	A	292	ENSP00000357132:T292A	ENSP00000357132:T292A	T	-	1	0	OR10X1	156815440	0.999000	0.42202	0.879000	0.34478	0.978000	0.69477	1.571000	0.36450	2.001000	0.58596	0.460000	0.39030	ACT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		28	786	0	0	0	1	0	28	786					C	158548816	T	C	158548816	3	2	79	1	0	0	0	0	1	0	0	0	10964	1638	57	4	101	4	OR10X1	1	158548816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	158548816	90701805	1283	11600											
OR10Z1	128368	broad.mit.edu	37	chr1	158576821	158576821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcccgagtgagctgaGgatctttatcctcagtcttt	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158576821G>T	ENST00000361284.1	+	1	593	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTGAGCTGAGGATCTTTATC	0.512																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(592-594)aGg>aTg		olfactory receptor, family 10, subfamily Z, member 1							139	117	124					1																	158576821		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576821G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.593G>T	1.37:g.158576821G>T	ENSP00000354707:p.Arg198Met						p.R198M	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	593	+	all_hematologic(112;0.0378)		198					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.593G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	1.832	-0.469578	0.04445	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.26	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.379178	0.19324	N	0.117043	T	0.02848	0.0085	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.48119	T	0.1	.	1.9586	0.03381	0.1515:0.1226:0.3631:0.3629	.	198	Q8NGY1	O10Z1_HUMAN	M	198	ENSP00000354707:R198M	ENSP00000354707:R198M	R	+	2	0	OR10Z1	156843445	0.000000	0.05858	0.117000	0.21633	0.026000	0.11368	0.108000	0.15396	0.339000	0.23719	-0.119000	0.15052	AGG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		14	721	1	0	0.000308642	1	0.000312942	14	721					T	158576821	G	T	158576821	3	4	79	1	0	0	0	0	1	0	0	0	10965	1000	35	3	595	3	OR10Z1	1	158576821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28005	158576821	90673800	1284	11601											
SPTA1	6708	broad.mit.edu	37	chr1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcatcaatcagttgtgCtttgagagccttccacctag	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1487					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)			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)					ATCAGTTGTGCTTTGAGAGCC	0.488																																						ENST00000368148.3																			0				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						c.(4459-4461)Gca>Aca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							105	96	99					1																	158612750		1991	4176	6167	SO:0001583	missense	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.chr1:158612750C>T	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.4459G>A	1.37:g.158612750C>T	ENSP00000357129:p.Ala1487Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1487T	p.A1487T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			32	4639	-	all_hematologic(112;0.0378)		1487					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4459G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117860	0.20877	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.2	1.14	0.20703	.	2.573990	0.02328	N	0.073630	T	0.17831	0.0428	L	0.41573	1.285	0.22317	N	0.999201	B	0.06786	0.001	B	0.09377	0.004	T	0.06954	-1.0798	10	0.29301	T	0.29	.	6.6757	0.23093	0.0:0.6484:0.1288:0.2228	.	1487	P02549	SPTA1_HUMAN	T	1487	ENSP00000357130:A1487T;ENSP00000357129:A1487T	ENSP00000357129:A1487T	A	-	1	0	SPTA1	156879374	0.961000	0.32948	0.035000	0.18076	0.702000	0.40608	1.766000	0.38491	0.057000	0.16193	0.655000	0.94253	GCA		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		10	257	0	0	0	1	0	10	257					T	158612750	C	T	158612750	3	4	79	1	0	0	0	0	1	0	0	0	15168	797	28	2	2884	2	SPTA1	1	158612750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35929	158612750	90637871	1285	11602											
SPTA1	6708	broad.mit.edu	37	chr1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctgggcctcatttaggCtctccttacgatcctttgta	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1284					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)			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)					CTCATTTAGGCTCTCCTTACG	0.547																																						ENST00000368148.3																			0				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						c.(3850-3852)aGc>aAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							133	134	134					1																	158617374		1982	4142	6124	SO:0001583	missense	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.chr1:158617374C>T	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.3851G>A	1.37:g.158617374C>T	ENSP00000357129:p.Ser1284Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.S1284N	p.S1284N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4031	-	all_hematologic(112;0.0378)		1284					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3851G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691624	0.15039	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.43	-0.0524	0.13822	.	.	.	.	.	T	0.10594	0.0259	N	0.20766	0.605	0.26862	N	0.967922	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	9	0.17832	T	0.49	.	7.9629	0.30081	0.0:0.3016:0.0:0.6984	.	1284	P02549	SPTA1_HUMAN	N	1284	ENSP00000357130:S1284N;ENSP00000357129:S1284N	ENSP00000357129:S1284N	S	-	2	0	SPTA1	156883998	1.000000	0.71417	0.059000	0.19551	0.247000	0.25773	1.080000	0.30779	-0.089000	0.12484	-0.244000	0.11960	AGC		0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	560	0	0	0	1	0	79	560					T	158617374	C	T	158617374	3	4	79	1	0	0	0	0	1	0	0	0	15168	797	28	2	3512	2	SPTA1	1	158617374	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4624	158617374	90633247	1286	11603											
SPTA1	6708	broad.mit.edu	37	chr1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctccaaatgaattgagatCtaatagaaaggcctcatgct	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	947					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)			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)					GAATTGAGATCTAATAGAAAG	0.403																																						ENST00000368148.3																			0				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						c.(2839-2841)Gat>Aat		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							163	164	164					1																	158626413		1840	4085	5925	SO:0001583	missense	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.chr1:158626413C>T	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.2839G>A	1.37:g.158626413C>T	ENSP00000357129:p.Asp947Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.D947N	p.D947N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			20	3019	-	all_hematologic(112;0.0378)		947					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2839G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.5	5.5	0.81552	.	0.000000	0.33110	N	0.005265	T	0.82259	0.4998	M	0.86573	2.825	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82649	-0.0353	10	0.51188	T	0.08	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	947	P02549	SPTA1_HUMAN	N	947	ENSP00000357130:D947N;ENSP00000357129:D947N	ENSP00000357129:D947N	D	-	1	0	SPTA1	156893037	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	6.502000	0.73695	2.861000	0.98227	0.655000	0.94253	GAT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		139	510	0	0	0	1	0	139	510					T	158626413	C	T	158626413	3	4	79	1	0	0	0	0	1	0	0	0	15168	913	32	2	4552	2	SPTA1	1	158626413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9039	158626413	90624208	1287	11604											
SPTA1	6708	broad.mit.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					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.R891*(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)					TCATTTTGTCGCCTAGCAGCT	0.463																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.R891*(1)	endometrium(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						c.(2671-2673)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							175	172	173					1																	158627401		2011	4191	6202	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.chr1:158627401G>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.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891*	p.R891*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2851	-	all_hematologic(112;0.0378)		891					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		251	632	0	0	0	1	0	251	632					A	158627401	G	A	158627401	4	1	79	1	0	0	0	0	0	1	0	0	15168	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	988	158627401	90623220	1288	11605											
SPTA1	6708	broad.mit.edu	37	chr1	158631185	158631185	+	Missense_Mutation	SNP	C	C	T													attcagaagctttttggaagCaatcaggtcctttcctgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368147.4	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	827					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)			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)					TTTTTGGAAGCAATCAGGTCC	0.428																																						ENST00000368148.3																			0				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						c.(2479-2481)Gct>Act		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							143	134	136					1																	158631185		1878	4113	5991	SO:0001583	missense	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.chr1:158631185C>T	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.2479G>A	1.37:g.158631185C>T	ENSP00000357129:p.Ala827Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A827T	p.A827T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2659	-	all_hematologic(112;0.0378)		827					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2479G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198257	0.38806	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	4.93	-0.371	0.12525	.	.	.	.	.	T	0.09335	0.0230	N	0.12746	0.255	0.31268	N	0.69208	B	0.06786	0.001	B	0.17979	0.02	T	0.27773	-1.0064	9	0.23302	T	0.38	.	5.7759	0.18279	0.3872:0.4682:0.0:0.1446	.	827	P02549	SPTA1_HUMAN	T	827	ENSP00000357130:A827T;ENSP00000357129:A827T	ENSP00000357129:A827T	A	-	1	0	SPTA1	156897809	0.922000	0.31269	0.083000	0.20561	0.801000	0.45260	0.655000	0.24933	-0.227000	0.09884	0.650000	0.86243	GCT		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		67	384	0	0	0	1	0	67	384					T	158631185	C	T	158631185	3	4	79	1	0	0	0	0	1	0	0	0	15168	710	25	2	4920	2	SPTA1	1	158631185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3784	158631185	90619436	1289	11606	72	2									
SPTA1	6708	broad.mit.edu	37	chr1	158631186	158631186	+	Silent	SNP	A	A	G													ttcagaagctttttggaagcAatcaggtcctttcctgcaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368147.4	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	826					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)			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)					TTTTGGAAGCAATCAGGTCCT	0.428																																						ENST00000368148.3																			0				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						c.(2476-2478)atT>atC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							140	131	134					1																	158631186		1877	4112	5989	SO:0001819	synonymous_variant	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.chr1:158631186A>G	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.2478T>C	1.37:g.158631186A>G						SPTA1_ENST00000368147.3_Silent_p.I826I	p.I826I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2658	-	all_hematologic(112;0.0378)		826					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2478T>C	CCDS41423.1																																																																																				0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		64	383	0	0	0	1	0	64	383					G	158631186	A	G	158631186	2	3	79	1	0	0	0	0	0	0	0	1	15168	126	5	4		4	SPTA1	1	158631186	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	158631186	90619435	1290	11607	72	2									
SPTA1	6708	broad.mit.edu	37	chr1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcagctgctggttggcctCatgcaactgggtccctggga	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	685					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)			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)					TGGTTGGCCTCATGCAACTGG	0.448																																						ENST00000368148.3																			0				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						c.(2053-2055)Gag>Tag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							41	40	40					1																	158636273		1944	4138	6082	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.chr1:158636273C>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.2053G>T	1.37:g.158636273C>A	ENSP00000357129:p.Glu685*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E685*	p.E685*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			16	2233	-	all_hematologic(112;0.0378)		685					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2053G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869622	0.97049	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.71	2.85	0.33270	.	0.251914	0.20648	N	0.088271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.753	0.40487	0.0:0.8306:0.0:0.1694	.	.	.	.	X	685	.	ENSP00000357129:E685X	E	-	1	0	SPTA1	156902897	1.000000	0.71417	0.110000	0.21437	0.005000	0.04900	4.944000	0.63561	0.601000	0.29879	-0.142000	0.14014	GAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		29	156	1	0	9.39395e-14	1	1.01619e-13	29	156					A	158636273	C	A	158636273	4	1	79	1	0	0	0	0	0	1	0	0	15168	835	29	3	5354	3	SPTA1	1	158636273	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5087	158636273	90614348	1291	11608											
SPTA1	6708	broad.mit.edu	37	chr1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataccccgtcacggatagcCttgatgttctctgaatcata	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	554					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)			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)					CACGGATAGCCTTGATGTTCT	0.428																																						ENST00000368148.3																			0				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						c.(1660-1662)aaG>aaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							230	218	222					1																	158639514		1918	4124	6042	SO:0001583	missense	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.chr1:158639514C>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.1662G>T	1.37:g.158639514C>A	ENSP00000357129:p.Lys554Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.K554N	p.K554N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1842	-	all_hematologic(112;0.0378)		554					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1662G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443166	0.12164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.72	2.36	0.29203	.	0.663319	0.11715	N	0.536488	T	0.16257	0.0391	N	0.16368	0.405	0.19575	N	0.999963	B	0.19706	0.038	B	0.30495	0.116	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4003	0.44225	0.685:0.3149:0.0:0.0	.	554	P02549	SPTA1_HUMAN	N	554	ENSP00000357130:K554N;ENSP00000357129:K554N	ENSP00000357129:K554N	K	-	3	2	SPTA1	156906138	0.956000	0.32656	0.216000	0.23742	0.008000	0.06430	1.365000	0.34182	0.389000	0.25086	-1.224000	0.01588	AAG		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		315	923	1	0	1.50759e-95	1	1.93743e-95	315	923					A	158639514	C	A	158639514	3	1	79	1	0	0	0	0	1	0	0	0	15168	680	24	3	5757	3	SPTA1	1	158639514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3241	158639514	90611107	1292	11609											
SPTA1	6708	broad.mit.edu	37	chr1	158641181	158641181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcaaagtcttcatgCttctgaagaagggcttctgc	9	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	517					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)			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)					AGTCTTCATGCTTCTGAAGAA	0.468																																						ENST00000368148.3																			0				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						c.(1549-1551)aaG>aaA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							118	111	113					1																	158641181		1869	4090	5959	SO:0001819	synonymous_variant	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.chr1:158641181C>T	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.1551G>A	1.37:g.158641181C>T						SPTA1_ENST00000368147.3_Silent_p.K517K	p.K517K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			12	1731	-	all_hematologic(112;0.0378)		517					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1551G>A	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		63	175	0	0	0	1	0	63	175					T	158641181	C	T	158641181	2	4	79	1	0	0	0	0	0	0	0	1	15168	796	28	2		2	SPTA1	1	158641181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	158641181	90609440	1293	11610											
SPTA1	6708	broad.mit.edu	37	chr1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatttcttatgcagaacttCggtgcgctcccagtcttcac	7	12	3	1	rs367689703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	194					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)			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)					TGCAGAACTTCGGTGCGCTCC	0.463																																						ENST00000368148.3																			0				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						c.(580-582)Gaa>Aaa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	LYS/GLU	1,3769		0,1,1884	118	115	116		580	5.1	1	1		116	0,8248		0,0,4124	no	missense	SPTA1	NM_003126.2	56	0,1,6008	TT,TC,CC		0.0,0.0265,0.0083	probably-damaging	194/2420	158650471	1,12017	1885	4124	6009	SO:0001583	missense	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.chr1:158650471C>T	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.580G>A	1.37:g.158650471C>T	ENSP00000357129:p.Glu194Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E194K	p.E194K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	760	-	all_hematologic(112;0.0378)		194					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.580G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675462	0.88445	2.65E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.07	5.07	0.68467	.	0.000000	0.32459	N	0.006061	T	0.67154	0.2863	M	0.87038	2.855	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.69720	-0.5069	10	0.45353	T	0.12	.	17.2088	0.86925	0.0:1.0:0.0:0.0	.	194	P02549	SPTA1_HUMAN	K	194	ENSP00000357130:E194K;ENSP00000357129:E194K	ENSP00000357129:E194K	E	-	1	0	SPTA1	156917095	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.350000	0.66016	2.627000	0.88993	0.650000	0.86243	GAA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		136	382	0	0	0	1	0	136	382					T	158650471	C	T	158650471	3	4	79	1	0	0	0	0	1	0	0	0	15168	893	31	1	6871	1	SPTA1	1	158650471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9290	158650471	90600150	1294	11611											
SPTA1	6708	broad.mit.edu	37	chr1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatcgttcttcccttgTtttttccagttcagacatga	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	114					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.T114A(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)					TCTTCCCTTGTTTTTTCCAGT	0.378																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.T114A(1)	large_intestine(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						c.(340-342)Aca>Gca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							235	210	218					1																	158653211		1858	4108	5966	SO:0001583	missense	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.chr1:158653211T>C	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.340A>G	1.37:g.158653211T>C	ENSP00000357129:p.Thr114Ala					SPTA1_ENST00000368147.3_Missense_Mutation_p.T114A	p.T114A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			3	520	-	all_hematologic(112;0.0378)		114					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.340A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	SPTA1	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA		0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		28	376	0	0	0	1	0	28	376					C	158653211	T	C	158653211	3	2	79	1	0	0	0	0	1	0	0	0	15168	1725	60	4	7119	4	SPTA1	1	158653211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2740	158653211	90597410	1295	11612											
OR6K2	81448	broad.mit.edu	37	chr1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcaatggctatatcccaGaacaaagagtaggtggcaga	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTATATCCCAGAACAAAGAGT	0.423																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(808-810)ttC>ttA		olfactory receptor, family 6, subfamily K, member 2							103	99	101					1																	158669633		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669633G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.810C>A	1.37:g.158669633G>T	ENSP00000352626:p.Phe270Leu						p.F270L	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	853	-	all_hematologic(112;0.0378)		270					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.810C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854524	0.17106	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000525	T	0.00039	0.0001	N	0.04820	-0.15	0.24203	N	0.995501	B	0.11235	0.004	B	0.20384	0.029	T	0.41360	-0.9513	10	0.28530	T	0.3	-14.1783	3.9631	0.09420	0.0876:0.1584:0.5905:0.1635	.	270	Q8NGY2	OR6K2_HUMAN	L	270	ENSP00000352626:F270L	ENSP00000352626:F270L	F	-	3	2	OR6K2	156936257	0.167000	0.22975	0.999000	0.59377	0.980000	0.70556	0.303000	0.19210	1.287000	0.44583	0.655000	0.94253	TTC		0.423	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		63	183	1	0	1.80625e-27	1	2.09175e-27	63	183					T	158669633	G	T	158669633	3	4	79	1	0	0	0	0	1	0	0	0	11244	933	33	3	168	3	OR6K2	1	158669633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16422	158669633	90580988	1296	11613											
OR6K2	81448	broad.mit.edu	37	chr1	158669909	158669909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcactgggaggaagtcAcagaagatatgttcaaggtg	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAGGAAGTCACAGAAGATAT	0.478																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(532-534)tgT>tgC		olfactory receptor, family 6, subfamily K, member 2							130	111	117					1																	158669909		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669909A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.534T>C	1.37:g.158669909A>G							p.C178C	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	577	-	all_hematologic(112;0.0378)		178					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.534T>C	CCDS30902.1																																																																																				0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		116	339	0	0	0	1	0	116	339					G	158669909	A	G	158669909	2	3	79	1	0	0	0	0	0	0	0	1	11244	157	6	4		4	OR6K2	1	158669909	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	158669909	90580712	1297	11614											
OR6K6	128371	broad.mit.edu	37	chr1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttttccactatcagaagaGggctggttgggctgggaaat	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1009-1011)aGg>aTg		olfactory receptor, family 6, subfamily K, member 6							79	84	82					1																	158725615		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725615G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.1010G>T	1.37:g.158725615G>T	ENSP00000357126:p.Arg337Met						p.R337M	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1106	+	all_hematologic(112;0.0378)		337					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.1010G>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233255	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.38401	1.14	5.26	1.03	0.20045	.	1.356070	0.05214	N	0.507211	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.0036	2.9484	0.05853	0.1606:0.4079:0.2922:0.1393	.	337	Q8NGW6	OR6K6_HUMAN	M	337	ENSP00000357126:R337M	ENSP00000357126:R337M	R	+	2	0	OR6K6	156992239	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.014000	0.13333	0.031000	0.15407	0.655000	0.94253	AGG		0.408	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		118	326	1	0	2.19568e-55	1	2.74427e-55	118	326					T	158725615	G	T	158725615	3	4	79	1	0	0	0	0	1	0	0	0	11246	1000	35	3	1012	3	OR6K6	1	158725615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55706	158725615	90525006	1298	11615											
OR6N1	128372	broad.mit.edu	37	chr1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttatagacgtatcagtgCaagccaaactcagcacagga	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, 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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGTATCAGTGCAAGCCAAACT	0.458																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(565-567)tGc>tAc		olfactory receptor, family 6, subfamily N, member 1							109	113	111					1																	158735907		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735907C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.566G>A	1.37:g.158735907C>T	ENSP00000335535:p.Cys189Tyr						p.C189Y	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	585	-	all_hematologic(112;0.0378)		189					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.566G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558087	0.65538	.	.	ENSG00000197403	ENST00000335094	T	0.00462	7.26	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000116	T	0.01421	0.0046	M	0.93678	3.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.44847	-0.9301	10	0.87932	D	0	-13.5291	16.7399	0.85456	0.0:1.0:0.0:0.0	.	189	Q8NGY5	OR6N1_HUMAN	Y	189	ENSP00000335535:C189Y	ENSP00000335535:C189Y	C	-	2	0	OR6N1	157002531	0.955000	0.32602	1.000000	0.80357	0.966000	0.64601	2.281000	0.43452	2.454000	0.82982	0.655000	0.94253	TGC		0.458	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		120	535	0	0	0	1	0	120	535					T	158735907	C	T	158735907	3	4	79	1	0	0	0	0	1	0	0	0	11248	710	25	2	375	2	OR6N1	1	158735907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10292	158735907	90514714	1299	11616											
MNDA	4332	broad.mit.edu	37	chr1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagcacatctgcagctgTggatcatcccccactacccc	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGCAGCTGTGGATCATCCC	0.483																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(508-510)gTg>gGg		myeloid cell nuclear differentiation antigen							258	212	228					1																	158813851		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813851T>G	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.509T>G	1.37:g.158813851T>G	ENSP00000357123:p.Val170Gly						p.V170G	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			4	770	+	all_hematologic(112;0.0378)		170						Missense_Mutation	SNP	ENST00000368141.4	37	c.509T>G	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.344458	0.01277	.	.	ENSG00000163563	ENST00000368141	T	0.05081	3.5	2.94	-5.88	0.02290	.	.	.	.	.	T	0.00784	0.0026	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.23891	T	0.37	-0.2149	6.7544	0.23505	0.2972:0.1296:0.0:0.5732	.	170	P41218	MNDA_HUMAN	G	170	ENSP00000357123:V170G	ENSP00000357123:V170G	V	+	2	0	MNDA	157080475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.082000	0.00045	-4.526000	0.00044	-2.020000	0.00432	GTG		0.483	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		201	793	0	0	0	1	0	201	793					G	158813851	T	G	158813851	3	3	79	1	0	0	0	0	1	0	0	0	9717	1696	59	4	519	4	MNDA	1	158813851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77944	158813851	90436770	1300	11617											
PYHIN1	149628	broad.mit.edu	37	chr1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcatgtgaaggttttaAacatcaacttgaagaggaaa	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	256	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGGTTTTAAACATCAACTT	0.328																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(766-768)Aac>Gac		pyrin and HIN domain family, member 1							58	61	60					1																	158911953		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911953A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.766A>G	1.37:g.158911953A>G	ENSP00000357122:p.Asn256Asp					PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D	p.N256D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			5	1011	+	all_hematologic(112;0.0378)		256			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.766A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371365	0.11409	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.85	-1.2	0.09554	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03871	0.0109	L	0.41961	1.31	0.09310	N	0.999999	P;P;P;B	0.43477	0.808;0.697;0.808;0.444	B;P;B;B	0.46026	0.357;0.501;0.357;0.373	T	0.29336	-1.0015	9	0.19590	T	0.45	.	3.011	0.06044	0.4912:0.233:0.2758:0.0	.	247;256;247;256	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	D	256;247;256;247	ENSP00000357122:N256D;ENSP00000357120:N247D;ENSP00000376083:N256D;ENSP00000376082:N247D	ENSP00000357120:N247D	N	+	1	0	PYHIN1	157178577	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	0.161000	0.16481	-0.411000	0.07530	0.533000	0.62120	AAC		0.328	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		86	265	0	0	0	1	0	86	265					G	158911953	A	G	158911953	3	3	79	1	0	0	0	0	1	0	0	0	12915	14	1	4	780	4	PYHIN1	1	158911953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98102	158911953	90338668	1301	11618											
PYHIN1	149628	broad.mit.edu	37	chr1	158913768	158913768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgcatagtttcatccaGgtgagaaataaagaaacaaa	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	397	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTTTCATCCAGGTGAGAAATA	0.338																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e6+1		pyrin and HIN domain family, member 1							51	52	52					1																	158913768		2203	4299	6502	SO:0001630	splice_region_variant	149628				cell cycle	nuclear speck		g.chr1:158913768G>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1191+1G>T	1.37:g.158913768G>T						PYHIN1_ENST00000392252.3_Splice_Site_p.Q388_splice|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388_splice|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397_splice	p.Q397_splice	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1436	+	all_hematologic(112;0.0378)		397			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Splice_Site	SNP	ENST00000368140.1	37	c.1191_splice	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369596	0.42003	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.31918	0.0812	L	0.61218	1.895	0.40710	D	0.982568	D;D;D;D	0.65815	0.995;0.991;0.995;0.992	D;P;P;P	0.64506	0.926;0.892;0.859;0.782	T	0.12243	-1.0555	9	0.87932	D	0	.	9.6522	0.39904	0.0:0.0:1.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	397;388;397;388	ENSP00000357122:Q397H;ENSP00000357120:Q388H;ENSP00000376083:Q397H;ENSP00000376082:Q388H	ENSP00000357120:Q388H	Q	+	3	2	PYHIN1	157180392	1.000000	0.71417	0.097000	0.21041	0.107000	0.19398	3.661000	0.54503	1.675000	0.50919	0.591000	0.81541	CAG		0.338	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	Missense_Mutation	82	208	1	0	3.3814e-41	1	4.10641e-41	82	208					T	158913768	G	T	158913768	5	4	79	1	0	0	0	0	0	0	1	0	12915	1014	35	3	1209	3	PYHIN1	1	158913768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1815	158913768	90336853	1302	11619											
IFI16	3428	broad.mit.edu	37	chr1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctactgtatctgaagCtggtcctaaccaaacgtttg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				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)			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)					GTATCTGAAGCTGGTCCTAAC	0.338																																						ENST00000295809.7																			0				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						c.(844-846)gCt>gTt		interferon, gamma-inducible protein 16							65	66	66					1																	158988314		2203	4300	6503	SO:0001583	missense	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.chr1:158988314C>T	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.845C>T	1.37:g.158988314C>T	ENSP00000295809:p.Ala282Val					IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V	p.A282V			Q16666	IF16_HUMAN			5	1100	+	all_hematologic(112;0.0429)		282			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.845C>T		.	.	.	.	.	.	.	.	.	.	C	8.937	0.964958	0.18583	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	2.9	-0.208	0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.25094	0.71	0.09310	N	1	P;P;P	0.46859	0.726;0.477;0.885	B;B;B	0.32980	0.156;0.038;0.156	T	0.32214	-0.9915	8	.	.	.	.	5.1772	0.15141	0.0:0.5616:0.0:0.4384	.	230;282;282	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	282;282;282;282;230	ENSP00000295809:A282V;ENSP00000342741:A282V;ENSP00000357113:A282V;ENSP00000357114:A282V;ENSP00000394935:A230V	.	A	+	2	0	IFI16	157254938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.061000	0.03472	0.086000	0.17137	0.555000	0.69702	GCT		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		80	222	0	0	0	1	0	80	222					T	158988314	C	T	158988314	3	4	79	1	0	0	0	0	1	0	0	0	7541	797	28	2	859	2	IFI16	1	158988314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74546	158988314	90262307	1303	11620											
CADM3	57863	broad.mit.edu	37	chr1	159163241	159163241	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcccatcatcactggTtataaatcttcattacggga	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_ENST00000368124.4_Silent_p.G171G|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	137	Ig-like C2-type 1.				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)			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)					TCATCACTGGTTATAAATCTT	0.542																																						ENST00000368125.4																			0				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						c.(409-411)ggT>ggG		cell adhesion molecule 3							106	110	109					1																	159163241		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163241T>G	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.411T>G	1.37:g.159163241T>G						CADM3_ENST00000368124.4_Silent_p.G171G	p.G137G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	568	+	all_hematologic(112;0.0429)		137			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.411T>G	CCDS44251.1																																																																																				0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		44	441	0	0	0	1	0	44	441					G	159163241	T	G	159163241	2	3	79	1	0	0	0	0	0	0	0	1	2575	1712	60	4		4	CADM3	1	159163241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174927	159163241	90087380	1304	11621											
CADM3	57863	broad.mit.edu	37	chr1	159163289	159163289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccaccctaaactgtcaGtcttctgggagcaagcctgc	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_ENST00000368124.4_Silent_p.Q187Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	153	Ig-like C2-type 1.				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)			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)					TAAACTGTCAGTCTTCTGGGA	0.527																																						ENST00000368125.4																			0				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						c.(457-459)caG>caA		cell adhesion molecule 3							91	91	91					1																	159163289		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163289G>A	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.459G>A	1.37:g.159163289G>A						CADM3_ENST00000368124.4_Silent_p.Q187Q	p.Q153Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	616	+	all_hematologic(112;0.0429)		153			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.459G>A	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		106	294	0	0	0	1	0	106	294					A	159163289	G	A	159163289	2	1	79	1	0	0	0	0	0	0	0	1	2575	1020	36	2		2	CADM3	1	159163289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	159163289	90087332	1305	11622											
CADM3	57863	broad.mit.edu	37	chr1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgacacatgaggcaaaaGgctccgacgatgctccagac	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	369					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)			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)					TGAGGCAAAAGGCTCCGACGA	0.562																																						ENST00000368125.4																			0				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						c.(1105-1107)Ggc>Tgc		cell adhesion molecule 3							95	87	90					1																	159170620		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.chr1:159170620G>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.1105G>T	1.37:g.159170620G>T	ENSP00000357107:p.Gly369Cys					CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CADM3_ENST00000497636.1_3'UTR	p.G369C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			9	1262	+	all_hematologic(112;0.0429)		369					Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1105G>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607985	0.66558	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.65549	-0.16;-0.02	3.81	3.81	0.43845	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84007	0.0346	10	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	369;403	Q8N126;Q8N126-2	CADM3_HUMAN;.	C	403;369	ENSP00000357106:G403C;ENSP00000357107:G369C	ENSP00000357106:G403C	G	+	1	0	CADM3	157437244	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GGC		0.562	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		101	404	1	0	3.45148e-53	1	4.30018e-53	101	404					T	159170620	G	T	159170620	3	4	79	1	0	0	0	0	1	0	0	0	2575	1000	35	3	1245	3	CADM3	1	159170620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7331	159170620	90080001	1306	11623											
FCER1A	2205	broad.mit.edu	37	chr1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaatggttccacaatgGcagcctttcagaagagacaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	68	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(202-204)gGc>gAc		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						74	72	73					1																	159273844		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159273844G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.203G>A	1.37:g.159273844G>A	ENSP00000357097:p.Gly68Asp					FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	p.G68D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			4	302	+	all_hematologic(112;0.0429)		68			Ig-like 1.			Missense_Mutation	SNP	ENST00000368115.1	37	c.203G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328005	0.24080	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12255	2.7;2.7	4.7	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.517714	0.17599	N	0.168482	T	0.03827	0.0108	L	0.49513	1.565	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.38178	-0.9673	10	0.36615	T	0.2	.	11.939	0.52890	0.5089:0.0:0.4911:0.0	.	68	P12319	FCERA_HUMAN	D	68;35	ENSP00000357097:G68D;ENSP00000357096:G35D	ENSP00000357096:G35D	G	+	2	0	FCER1A	157540468	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.513000	0.06305	-0.927000	0.03766	-0.219000	0.12488	GGC		0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		77	375	0	0	0	1	0	77	375					A	159273844	G	A	159273844	3	1	79	1	0	0	0	0	1	0	0	0	5799	1203	42	2	213	2	FCER1A	1	159273844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103224	159273844	89976777	1307	11624											
FCER1A	2205	broad.mit.edu	37	chr1	159277659	159277659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatttctcttgaagattaaGagaaccaggaaaggcttcag	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	237					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(709-711)aaG>aaA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						98	94	95					1																	159277659		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159277659G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.711G>A	1.37:g.159277659G>A						FCER1A_ENST00000368114.1_Silent_p.K204K	p.K237K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			6	810	+	all_hematologic(112;0.0429)		237						Silent	SNP	ENST00000368115.1	37	c.711G>A	CCDS1184.1																																																																																				0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		70	296	0	0	0	1	0	70	296					A	159277659	G	A	159277659	2	1	79	1	0	0	0	0	0	0	0	1	5799	933	33	2		2	FCER1A	1	159277659	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3815	159277659	89972962	1308	11625											
OR10J3	441911	broad.mit.edu	37	chr1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagttttttgccccacGgctctgtgcagagcatcttt	10	11	2	2	rs144550384	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22495	0.0		0.0	False		,,,				2504	0.0					ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(913-915)Cgt>Tgt		olfactory receptor, family 10, subfamily J, member 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	75	77		913	-4.5	0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	OR10J3	NM_001004467.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/330	159283537	1,13005	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283537G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.913C>T	1.37:g.159283537G>A	ENSP00000331789:p.Arg305Cys						p.R305C	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	912	-	all_hematologic(112;0.0429)		305						Missense_Mutation	SNP	ENST00000332217.5	37	c.913C>T	CCDS30909.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.72	1.429576	0.25726	2.27E-4	0.0	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-4.52	0.03472	.	2.411510	0.03146	U	0.167340	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.87932	D	0	.	12.9063	0.58154	0.7819:0.0:0.2181:0.0	.	305	Q5JRS4	O10J3_HUMAN	C	305	ENSP00000331789:R305C	ENSP00000331789:R305C	R	-	1	0	OR10J3	157550161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.088000	0.01359	-0.865000	0.04073	-0.137000	0.14449	CGT		0.428	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			110	444	0	0	0	1	0	110	444					A	159283537	G	A	159283537	3	1	79	1	0	0	0	0	1	0	0	0	10953	1116	39	1	78	1	OR10J3	1	159283537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5878	159283537	89967084	1309	11626											
OR10J3	441911	broad.mit.edu	37	chr1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggagataaagaccaggcCcataggtagaacaaggacac	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(637-639)Ggc>Agc		olfactory receptor, family 10, subfamily J, member 3							164	147	152					1																	159283813		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283813C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.637G>A	1.37:g.159283813C>T	ENSP00000331789:p.Gly213Ser						p.G213S	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	636	-	all_hematologic(112;0.0429)		213						Missense_Mutation	SNP	ENST00000332217.5	37	c.637G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755732	0.03019	.	.	ENSG00000196266	ENST00000332217	T	0.36157	1.27	5.2	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	N	0.759438	T	0.05502	0.0145	N	0.10618	0.005	0.09310	N	0.999999	B	0.16603	0.018	B	0.21360	0.034	T	0.41893	-0.9483	10	0.27785	T	0.31	.	4.3199	0.11011	0.2964:0.5294:0.0:0.1742	.	213	Q5JRS4	O10J3_HUMAN	S	213	ENSP00000331789:G213S	ENSP00000331789:G213S	G	-	1	0	OR10J3	157550437	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	-0.119000	0.10676	0.029000	0.15352	0.561000	0.74099	GGC		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			74	479	0	0	0	1	0	74	479					T	159283813	C	T	159283813	3	4	79	1	0	0	0	0	1	0	0	0	10953	623	22	2	354	2	OR10J3	1	159283813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	159283813	89966808	1310	11627											
OR10J1	26476	broad.mit.edu	37	chr1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttcttctgtgacatcCgccctgtgatgaagctctcc	7	16	3	3	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	192					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(574-576)Cgc>Tgc		olfactory receptor, family 10, subfamily J, member 1		C	CYS/ARG	0,4406		0,0,2203	233	210	218		574	2.3	0.7	1	dbSNP_134	218	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR10J1	NM_012351.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	192/321	159410122	4,13002	2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410122C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.574C>T	1.37:g.159410122C>T	ENSP00000399078:p.Arg192Cys					RP11-550P17.5_ENST00000431862.1_RNA	p.R192C	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	611	+	all_hematologic(112;0.0429)		192					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.574C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251879	0.22880	0.0	4.65E-4	ENSG00000196184	ENST00000423932	T	0.00145	8.67	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.197989	0.25222	N	0.032234	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	0.999991	D	0.76494	0.999	D	0.65140	0.932	T	0.13791	-1.0496	10	0.62326	D	0.03	.	3.8628	0.09004	0.1888:0.6068:0.0:0.2043	.	192	P30954	O10J1_HUMAN	C	192	ENSP00000399078:R192C	ENSP00000399078:R192C	R	+	1	0	OR10J1	157676746	0.000000	0.05858	0.657000	0.29651	0.554000	0.35429	-0.571000	0.05889	0.503000	0.28060	0.650000	0.86243	CGC		0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		145	723	0	0	0	1	0	145	723					T	159410122	C	T	159410122	3	4	79	1	0	0	0	0	1	0	0	0	10952	652	23	1	576	1	OR10J1	1	159410122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126309	159410122	89840499	1311	11628											
OR10J5	127385	broad.mit.edu	37	chr1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagggttatctgatgctttCcaaagctagaaaatcccaag	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(61-63)gGa>gAa		olfactory receptor, family 10, subfamily J, member 5							85	83	83					1																	159505736		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505736C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.62G>A	1.37:g.159505736C>T	ENSP00000334441:p.Gly21Glu						p.G21E	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	106	-	all_hematologic(112;0.0429)		21					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.62G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628761	0.03610	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.29	2.4	0.29515	.	.	.	.	.	T	0.00666	0.0022	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.47289	-0.9129	9	0.09338	T	0.73	.	3.2892	0.06943	0.2082:0.5749:0.0:0.2169	.	21	Q8NHC4	O10J5_HUMAN	E	21	ENSP00000334441:G21E	ENSP00000334441:G21E	G	-	2	0	OR10J5	157772360	0.000000	0.05858	0.545000	0.28153	0.476000	0.33039	-0.100000	0.10990	1.146000	0.42352	0.557000	0.71058	GGA		0.368	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		89	489	0	0	0	1	0	89	489					T	159505736	C	T	159505736	3	4	79	1	0	0	0	0	1	0	0	0	10954	855	30	2	869	2	OR10J5	1	159505736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95614	159505736	89744885	1312	11629											
APCS	325	broad.mit.edu	37	chr1	159558114	159558114	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagtctatacattggaagAcacaaagttacatccaaagt	6	7	1	1	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	96	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433																																						ENST00000255040.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(286-288)agA>agG		amyloid P component, serum							95	94	94					1																	159558114		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558114A>G		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.288A>G	1.37:g.159558114A>G							p.R96R	NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN			2	385	+	all_hematologic(112;0.0429)		96			Pentaxin.			Silent	SNP	ENST00000255040.2	37	c.288A>G	CCDS1186.1																																																																																				0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		40	485	0	0	0	1	0	40	485					G	159558114	A	G	159558114	2	3	79	1	0	0	0	0	0	0	0	1	767	272	10	4		4	APCS	1	159558114	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52378	159558114	89692507	1313	11630											
IGSF9	57549	broad.mit.edu	37	chr1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcggggtgggggactgGctgtcgataggctggtagcc	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1169					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)			TGGGGGACTGGCTGTCGATAG	0.622																																						ENST00000368094.1																			0				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						c.(3505-3507)Cca>Tca		immunoglobulin superfamily, member 9							52	56	55					1																	159897170		2109	4133	6242	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897170G>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.3505C>T	1.37:g.159897170G>A	ENSP00000357073:p.Pro1169Ser					IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|IGSF9_ENST00000493195.1_5'UTR	p.P1169S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3702	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1169						Missense_Mutation	SNP	ENST00000368094.1	37	c.3505C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258667	0.05791	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.63096	-0.02;0.07	4.89	1.85	0.25348	.	0.178280	0.27258	N	0.020195	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23440	-1.0188	9	.	.	.	-1.1824	2.9334	0.05807	0.1012:0.1792:0.5347:0.1849	.	1169;707	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1153;1169;707	ENSP00000355049:P1153S;ENSP00000357073:P1169S	.	P	-	1	0	IGSF9	158163794	1.000000	0.71417	0.037000	0.18230	0.431000	0.31685	1.311000	0.33562	0.208000	0.20626	0.563000	0.77884	CCA		0.622	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		89	519	0	0	0	1	0	89	519					A	159897170	G	A	159897170	3	1	79	1	0	0	0	0	1	0	0	0	7635	1203	42	2	38	2	IGSF9	1	159897170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339056	159897170	89353451	1314	11631											
IGSF9	57549	broad.mit.edu	37	chr1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcggcggcggcggaaggCcaggaattcctcccgaaggg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1151					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)			CGGCGGAAGGCCAGGAATTCC	0.627																																						ENST00000368094.1																			0				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						c.(3451-3453)Gcc>Tcc		immunoglobulin superfamily, member 9							47	51	50					1																	159897224		2203	4299	6502	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897224C>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.3451G>T	1.37:g.159897224C>A	ENSP00000357073:p.Ala1151Ser					IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|IGSF9_ENST00000493195.1_5'UTR	p.A1151S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3648	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1151						Missense_Mutation	SNP	ENST00000368094.1	37	c.3451G>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771903	0.90108	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67171	-0.25;-0.17	5.52	5.52	0.82312	.	0.000000	0.41500	D	0.000879	T	0.62368	0.2422	L	0.27053	0.805	0.33716	D	0.616383	D;D	0.58970	0.984;0.97	D;P	0.68192	0.956;0.681	T	0.63550	-0.6612	9	.	.	.	-17.8032	14.9501	0.71067	0.0:1.0:0.0:0.0	.	1151;689	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1135;1151;689	ENSP00000355049:A1135S;ENSP00000357073:A1151S	.	A	-	1	0	IGSF9	158163848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.635000	0.61332	2.608000	0.88229	0.563000	0.77884	GCC		0.627	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		75	522	1	0	2.08929e-35	1	2.49407e-35	75	522					A	159897224	C	A	159897224	3	1	79	1	0	0	0	0	1	0	0	0	7635	739	26	3	92	3	IGSF9	1	159897224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	159897224	89353397	1315	11632											
IGSF9	57549	broad.mit.edu	37	chr1	159899737	159899737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgaagctgcccgcgaagGccacgaggcggaactcgtag	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	ENST00000368094.1	-	16	2290	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	698	Fibronectin type-III 2. {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)				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)			GCCCGCGAAGGCCACGAGGCG	0.677																																						ENST00000368094.1																			0				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						c.(2092-2094)gCc>gTc		immunoglobulin superfamily, member 9							27	26	26					1																	159899737		2194	4294	6488	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159899737G>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.2093C>T	1.37:g.159899737G>A	ENSP00000357073:p.Ala698Val					IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	p.A698V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	2290	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	698			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000368094.1	37	c.2093C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962311	0.74016	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.76060	-0.99;-0.99	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39274	N	0.001415	T	0.81786	0.4896	M	0.70595	2.14	0.50467	D	0.999879	D	0.76494	0.999	D	0.76575	0.988	T	0.82112	-0.0618	9	.	.	.	-19.5679	15.7293	0.77790	0.0:0.0:1.0:0.0	.	698	Q9P2J2	TUTLA_HUMAN	V	682;698	ENSP00000355049:A682V;ENSP00000357073:A698V	.	A	-	2	0	IGSF9	158166361	1.000000	0.71417	0.986000	0.45419	0.280000	0.26924	8.747000	0.91610	2.296000	0.77279	0.561000	0.74099	GCC		0.677	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		11	57	0	0	0	1	0	11	57					A	159899737	G	A	159899737	3	1	79	1	0	0	0	0	1	0	0	0	7635	1203	42	2	1470	2	IGSF9	1	159899737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2513	159899737	89350884	1316	11633											
KCNJ10	3766	broad.mit.edu	37	chr1	160011435	160011435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaggtaggaagtgcgCacctgacaggtggcactggt	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000368089.3	-	2	1114	c.888G>A	c.(886-888)gtG>gtA	p.V296V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	296					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	AGGAAGTGCGCACCTGACAGG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(886-888)gtG>gtA		potassium inwardly-rectifying channel, subfamily J, member 10							78	71	73					1																	160011435		2203	4300	6503	SO:0001819	synonymous_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011435C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.888G>A	1.37:g.160011435C>T						KCNJ10_ENST00000509700.1_Intron	p.V296V	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1114	-	all_hematologic(112;0.093)		296					A3KME7|Q5VUT9|Q8N4I7|Q92808	Silent	SNP	ENST00000368089.3	37	c.888G>A	CCDS1193.1																																																																																				0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		38	193	0	0	0	1	0	38	193					T	160011435	C	T	160011435	2	4	79	1	0	0	0	0	0	0	0	1	8074	697	25	2		2	KCNJ10	1	160011435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111698	160011435	89239186	1317	11634											
IGSF8	93185	broad.mit.edu	37	chr1	160065030	160065030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctcccgggcccagcatCccattcctgtagggaaaggc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160065030C>T	ENST00000368086.1	-	2	287	c.71G>A	c.(70-72)gGa>gAa	p.G24E	IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	24					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCAGCATCCCATTCCTGT	0.597																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(70-72)gGa>gAa		immunoglobulin superfamily, member 8							21	23	22					1																	160065030		2203	4299	6502	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160065030C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.71G>A	1.37:g.160065030C>T	ENSP00000357065:p.Gly24Glu					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E	p.G24E			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	287	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		24					Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.71G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409436	0.25378	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.10005	3.54;3.54;2.92	4.64	0.423	0.16463	Immunoglobulin-like (1);	1.406170	0.04787	N	0.430823	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.20519	T	0.43	-2.0868	2.2414	0.04021	0.2633:0.451:0.1286:0.1571	.	24	Q969P0	IGSF8_HUMAN	E	24	ENSP00000316664:G24E;ENSP00000357065:G24E;ENSP00000397464:G24E	ENSP00000316664:G24E	G	-	2	0	IGSF8	158331654	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.555000	0.05999	-0.021000	0.14009	0.563000	0.77884	GGA		0.597	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		6	173	0	0	0	1	0	6	173					T	160065030	C	T	160065030	3	4	79	1	0	0	0	0	1	0	0	0	7634	855	30	2	1790	2	IGSF8	1	160065030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53595	160065030	89185591	1318	11635											
ATP1A2	477	broad.mit.edu	37	chr1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaagatgcagatcaacGcagaggaagtggtggtggga	18	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	180					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)			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)			GCAGATCAACGCAGAGGAAGT	0.587																																						ENST00000361216.3																			0				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						c.(538-540)Gca>Aca		ATPase, Na+/K+ transporting, alpha 2 polypeptide							128	103	112					1																	160094128		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094128G>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.538G>A	1.37:g.160094128G>A	ENSP00000354490:p.Ala180Thr					ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	627	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		180					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.538G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117388	0.94385	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91894	-2.93;-2.93	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.62016	1.91	0.80722	D	1	B;B	0.34372	0.451;0.346	B;B	0.36666	0.147;0.23	D	0.88958	0.3391	10	0.44086	T	0.13	.	17.3108	0.87210	0.0:0.0:1.0:0.0	.	25;180	B4DHD7;P50993	.;AT1A2_HUMAN	T	25;180;180	ENSP00000354490:A180T;ENSP00000376066:A180T	ENSP00000354490:A180T	A	+	1	0	ATP1A2	158360752	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	9.869000	0.99810	2.388000	0.81334	0.655000	0.94253	GCA		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		26	80	0	0	0	1	0	26	80					A	160094128	G	A	160094128	3	1	79	1	0	0	0	0	1	0	0	0	1130	1087	38	1	560	1	ATP1A2	1	160094128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29098	160094128	89156493	1319	11636											
ATP1A2	477	broad.mit.edu	37	chr1	160099109	160099109	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgctcaagtgcattgagctCtcctgtggctcagtgaggaa	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	460					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)			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)			GCATTGAGCTCTCCTGTGGCT	0.532																																						ENST00000361216.3																			0				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						c.(1378-1380)ctC>ctA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							163	159	160					1																	160099109		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099109C>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.1380C>A	1.37:g.160099109C>A						ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L460L	p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1469	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		460					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1380C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025685	0.19512	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	0.412	0.16397	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	4	.	.	.	.	7.7827	0.29074	0.154:0.2517:0.5943:0.0	.	.	.	.	Y	171	.	.	S	+	2	0	ATP1A2	158365733	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.305000	0.19254	0.133000	0.18654	-0.234000	0.12200	TCT		0.532	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		191	865	1	0	2.49235e-71	1	3.16901e-71	191	865					A	160099109	C	A	160099109	2	1	79	1	0	0	0	0	0	0	0	1	1130	900	32	3		3	ATP1A2	1	160099109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4981	160099109	89151512	1320	11637											
ATP1A2	477	broad.mit.edu	37	chr1	160109761	160109761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgaaagctcatcctgcgGcggtatcctggtggtaagcc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R996R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007			R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). {ECO:0000269|PubMed:23838748}.		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)			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)			TCATCCTGCGGCGGTATCCTG	0.587																																						ENST00000361216.3																			0				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						c.(3019-3021)cgG>cgA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							119	107	111					1																	160109761		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109761G>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.3021G>A	1.37:g.160109761G>A						ATP1A2_ENST00000392233.3_Silent_p.R996R	p.R1007R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3110	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1007					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.3021G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119542	0.20877	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	2.46	0.29980	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.6645	0.12659	0.1969:0.1822:0.6209:0.0	.	.	.	.	D	701	.	.	G	+	2	0	ATP1A2	158376385	0.028000	0.19301	0.998000	0.56505	0.942000	0.58702	-0.701000	0.05075	0.564000	0.29238	0.655000	0.94253	GGC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		135	397	0	0	0	1	0	135	397					A	160109761	G	A	160109761	2	1	79	1	0	0	0	0	0	0	0	1	1130	1190	42	2		2	ATP1A2	1	160109761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10652	160109761	89140860	1321	11638											
ATP1A4	480	broad.mit.edu	37	chr1	160128806	160128806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatagcaagctctggtaatTcgaggaggagagaagatgca	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	180					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)			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)			CTCTGGTAATTCGAGGAGGAG	0.473																																						ENST00000368081.4																			0				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						c.(538-540)atT>atC		ATPase, Na+/K+ transporting, alpha 4 polypeptide							93	83	86					1																	160128806		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:160128806T>C	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.540T>C	1.37:g.160128806T>C							p.I180I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	1011	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		180					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.540T>C	CCDS1197.1																																																																																				0.473	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		40	208	0	0	0	1	0	40	208					C	160128806	T	C	160128806	2	2	79	1	0	0	0	0	0	0	0	1	1132	1771	62	4		4	ATP1A4	1	160128806	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19045	160128806	89121815	1322	11639											
ATP1A4	480	broad.mit.edu	37	chr1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctccctagatgtccaTccaccttcgggaggacagct	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	500					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)			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)			TAGATGTCCATCCACCTTCGG	0.507																																						ENST00000368081.4																			0				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						c.(1498-1500)aTc>aCc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							126	127	127					1																	160141048		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.chr1:160141048T>C	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.1499T>C	1.37:g.160141048T>C	ENSP00000357060:p.Ile500Thr						p.I500T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1970	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		500					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1499T>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330839	0.24167	.	.	ENSG00000132681	ENST00000368081	T	0.80738	-1.41	4.29	4.29	0.51040	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052036	0.64402	D	0.000001	D	0.83649	0.5300	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.85949	0.1463	10	0.87932	D	0	.	11.7097	0.51618	0.0:0.0:0.0:1.0	.	500	Q13733	AT1A4_HUMAN	T	500	ENSP00000357060:I500T	ENSP00000357060:I500T	I	+	2	0	ATP1A4	158407672	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.963000	0.70372	1.921000	0.55644	0.533000	0.62120	ATC		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		157	490	0	0	0	1	0	157	490					C	160141048	T	C	160141048	3	2	79	1	0	0	0	0	1	0	0	0	1132	1435	50	4	1541	4	ATP1A4	1	160141048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12242	160141048	89109573	1323	11640											
ATP1A4	480	broad.mit.edu	37	chr1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaggataacctggtggCtctgtgccattccctacagt	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	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)			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)			AACCTGGTGGCTCTGTGCCAT	0.547																																						ENST00000368081.4																			0				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						c.(2983-2985)Ctc>Ttc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							269	262	265					1																	160156079		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.chr1:160156079C>T	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.2983C>T	1.37:g.160156079C>T	ENSP00000357060:p.Leu995Phe					ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	p.L995F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3454	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		995	ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).				Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2983C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	c	0.888	-0.726471	0.03158	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96168	-3.93;-3.93	4.95	-9.89	0.00464	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.279307	0.34932	N	0.003576	T	0.66005	0.2746	N	0.10707	0.03	0.21762	N	0.999552	B	0.02656	0.0	B	0.15052	0.012	T	0.70432	-0.4873	10	0.02654	T	1	.	10.7308	0.46096	0.0:0.1403:0.2396:0.6201	.	995	Q13733	AT1A4_HUMAN	F	995;131	ENSP00000357060:L995F;ENSP00000433094:L131F	ENSP00000357060:L995F	L	+	1	0	ATP1A4	158422703	0.066000	0.20996	0.413000	0.26509	0.731000	0.41821	-0.802000	0.04545	-1.839000	0.01186	-0.494000	0.04653	CTC		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		273	1509	0	0	0	1	0	273	1509					T	160156079	C	T	160156079	3	4	79	1	0	0	0	0	1	0	0	0	1132	797	28	2	3065	2	ATP1A4	1	160156079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15031	160156079	89094542	1324	11641											
CASQ1	844	broad.mit.edu	37	chr1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctaccatgaaccccccGaggatgacaaggcctcacaa	7	16	2	2	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368078.3	+	1	422	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAACCCCCCGAGGATGACAA	0.522													G|||	7	0.00139776	0.0038	0.0	5008	,	,		21258	0.0		0.002	False		,,,				2504	0.0					ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(208-210)Gag>Aag		calsequestrin 1 (fast-twitch, skeletal muscle)		G	LYS/GLU	11,4395	17.9+/-39.9	0,11,2192	97	92	94		226	4.2	1	1	dbSNP_133	94	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CASQ1	NM_001231.4	56	0,14,6489	AA,AG,GG		0.0349,0.2497,0.1076	possibly-damaging	76/397	160160767	14,12992	2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160767G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.226G>A	1.37:g.160160767G>A	ENSP00000357057:p.Glu76Lys					CASQ1_ENST00000368078.3_Missense_Mutation_p.E76K	p.E70K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	483	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		76					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.208G>A	CCDS1198.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.66	1.412613	0.25465	0.002497	3.49E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.128784	0.51477	D	0.000095	T	0.11153	0.0272	L	0.38838	1.175	0.36259	D	0.854407	B	0.29936	0.262	B	0.19148	0.024	T	0.03910	-1.0993	10	0.06494	T	0.89	.	15.5765	0.76392	0.0:0.0:1.0:0.0	.	76	P31415	CASQ1_HUMAN	K	70;76	ENSP00000357058:E70K;ENSP00000357057:E76K	ENSP00000357057:E76K	E	+	1	0	CASQ1	158427391	0.013000	0.17824	1.000000	0.80357	0.994000	0.84299	1.134000	0.31442	2.202000	0.70862	0.449000	0.29647	GAG		0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		67	187	0	0	0	1	0	67	187					A	160160767	G	A	160160767	3	1	79	1	0	0	0	0	1	0	0	0	2687	1059	37	1	228	1	CASQ1	1	160160767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4688	160160767	89089854	1325	11642											
DCAF8	50717	broad.mit.edu	37	chr1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgatgtgtctgaggagCtgggagactcatcagagtcc	14	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I|DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1732-1734)aGc>aTc		DDB1 and CUL4 associated factor 8							69	69	69					1																	160187443		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160187443C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1733G>T	1.37:g.160187443C>A	ENSP00000357052:p.Ser578Ile					DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I	p.S578I			Q5TAQ9	DCAF8_HUMAN			14	2167	-			578					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1733G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	T	0.81866	0.4913	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.944	D	0.84195	0.0447	10	0.87932	D	0	-11.435	17.0487	0.86511	0.0:1.0:0.0:0.0	.	732;578	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	I	578;578;578;732;559;732	ENSP00000357052:S578I;ENSP00000318227:S578I;ENSP00000357053:S578I;ENSP00000451989:S732I;ENSP00000451235:S732I	ENSP00000318227:S578I	S	-	2	0	RP11-574F21.3;DCAF8	158454067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.549000	0.85964	0.655000	0.94253	AGC		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		78	271	1	0	1.71382e-40	1	2.07847e-40	78	271					A	160187443	C	A	160187443	3	1	79	1	0	0	0	0	1	0	0	0	4287	797	28	3	64	3	DCAF8	1	160187443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26676	160187443	89063178	1326	11643											
PEX19	5824	broad.mit.edu	37	chr1	160253413	160253413	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggagggtttggctttatcGaaatcatcaagagcaccttc	12	8	2	1	rs141911166	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	29	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18595	0.0		0.0	False		,,,				2504	0.0					ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(85-87)ttC>ttT		peroxisomal biogenesis factor 19		G	,	5,4401	9.9+/-24.2	0,5,2198	81	75	77		87,87	1.1	1	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	29/280,29/300	160253413	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5824							g.chr1:160253413G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.87C>T	1.37:g.160253413G>A						PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR	p.F29F	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		2	108	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	c.87C>T	CCDS1201.1																																																																																				0.532	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		86	200	0	0	0	1	0	86	200					A	160253413	G	A	160253413	2	1	79	1	0	0	0	0	0	0	0	1	11786	1049	37	1		1	PEX19	1	160253413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65970	160253413	88997208	1327	11644											
COPA	1314	broad.mit.edu	37	chr1	160261125	160261125	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgaaggagttccatctacCtgttgggccacctcaggctt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1140					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)			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)			TTCCATCTACCTGTTGGGCCA	0.517											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				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						c.e31+1		coatomer protein complex, subunit alpha							97	97	97					1																	160261125		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.chr1:160261125C>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.3420+1G>T	1.37:g.160261125C>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Splice_Site_p.Q1149_splice	p.Q1140_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		31	3649	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1140					Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.3420_splice	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551477	0.86127	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.48836	0.8;0.8	5.96	5.96	0.96718	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64042	0.871;0.921	T	0.77749	-0.2471	9	.	.	.	-19.816	18.983	0.92761	0.0:1.0:0.0:0.0	.	1140;1149	P53621;P53621-2	COPA_HUMAN;.	H	1149;1140	ENSP00000357048:Q1149H;ENSP00000241704:Q1140H	.	Q	-	3	2	COPA	158527749	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.120000	0.77153	2.831000	0.97527	0.650000	0.86243	CAG		0.517	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Missense_Mutation	161	440	1	0	5.63857e-76	1	7.19304e-76	161	440					A	160261125	C	A	160261125	5	1	79	1	0	0	0	0	0	0	1	0	3736	695	24	3	266	3	COPA	1	160261125	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7712	160261125	88989496	1328	11645											
COPA	1314	broad.mit.edu	37	chr1	160277034	160277034	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatcgtttcccttcaggCgctgagaagaacaaaaccaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	407					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)			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)			TCCCTTCAGGCGCTGAGAAGA	0.537																																						ENST00000241704.7																			0				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						c.e14-1		coatomer protein complex, subunit alpha							121	114	116					1																	160277034		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.chr1:160277034C>T	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.1220-1G>A	1.37:g.160277034C>T						COPA_ENST00000368069.3_Splice_Site_p.A407_splice	p.A407_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1450	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		407					Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.1219_splice	CCDS1202.1																																																																																				0.537	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Silent	175	453	0	0	0	1	0	175	453					T	160277034	C	T	160277034	5	4	79	1	0	0	0	0	0	0	1	0	3736	782	27	1	2560	1	COPA	1	160277034	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15909	160277034	88973587	1329	11646											
COPA	1314	broad.mit.edu	37	chr1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctacctttgacccgcgcgctCttggtctcgaatttggttaa	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_ENST00000368069.3_Missense_Mutation_p.K8N|NCSTN_ENST00000368063.1_5'Flank|NCSTN_ENST00000294785.5_5'Flank|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	8					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)			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)			CCCGCGCGCTCTTGGTCTCGA	0.567																																						ENST00000241704.7																			0				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						c.(22-24)aaG>aaT		coatomer protein complex, subunit alpha							185	195	191					1																	160312937		2203	4300	6503	SO:0001583	missense	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.chr1:160312937C>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.24G>T	1.37:g.160312937C>A	ENSP00000241704:p.Lys8Asn					COPA_ENST00000368069.3_Missense_Mutation_p.K8N	p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	253	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		8					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.24G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270903	0.80469	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80994	-1.44;-1.44	4.99	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049517	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.971	D	0.85280	0.1061	10	0.87932	D	0	-17.2707	7.1259	0.25471	0.0:0.7243:0.0:0.2757	.	8;8	P53621;P53621-2	COPA_HUMAN;.	N	8	ENSP00000357048:K8N;ENSP00000241704:K8N	ENSP00000241704:K8N	K	-	3	2	COPA	158579561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.516000	0.35856	0.658000	0.30925	0.655000	0.94253	AAG		0.567	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		365	974	1	0	7.18946e-127	1	9.25872e-127	365	974					A	160312937	C	A	160312937	3	1	79	1	0	0	0	0	1	0	0	0	3736	912	32	3	3809	3	COPA	1	160312937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35903	160312937	88937684	1330	11647											
SLAMF6	114836	broad.mit.edu	37	chr1	160466068	160466068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgtttcattgaaaagCcaagtgatgaagttgacctt	10	5	1	5	rs370941814		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160466068C>T	ENST00000368057.3	-	2	225	c.165G>A	c.(163-165)tgG>tgA	p.W55*	SLAMF6_ENST00000368059.3_Nonsense_Mutation_p.W55*|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	55	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CATTGAAAAGCCAAGTGATGA	0.463																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(163-165)tgG>tgA		SLAM family member 6							252	234	240					1																	160466068		2203	4300	6503	SO:0001587	stop_gained	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466068C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.165G>A	1.37:g.160466068C>T	ENSP00000357036:p.Trp55*					SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.W55*	p.W55*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	234	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		55					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	c.165G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475593	0.63737	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.98	13.561	0.61788	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000357036:W55X	W	-	3	0	SLAMF6	158732692	0.948000	0.32251	0.163000	0.22734	0.041000	0.13682	3.605000	0.54088	2.577000	0.86979	0.655000	0.94253	TGG		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		17	1210	0	0	0	1	0	17	1210					T	160466068	C	T	160466068	4	4	79	1	0	0	0	0	0	1	0	0	14418	740	26	2	861	2	SLAMF6	1	160466068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153131	160466068	88784553	1331	11648											
CD84	8832	broad.mit.edu	37	chr1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgttttagaagtccaaGcaatgattttaacttgccgt	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000311224.4	-	2	224	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368054.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	53	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAAGTCCAAGCAATGATTTT	0.413																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(157-159)gCt>gAt		CD84 molecule							118	113	115					1																	160535424		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535424G>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.158C>A	1.37:g.160535424G>T	ENSP00000312367:p.Ala53Asp					CD84_ENST00000368051.3_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron	p.A53D	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	193	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		53					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.158C>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457780	0.26161	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.11	-0.318	0.12728	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.821648	0.11607	N	0.547213	T	0.04815	0.0130	L	0.39020	1.185	0.09310	N	0.999999	D;P;P;B;P;P	0.56035	0.974;0.596;0.763;0.395;0.53;0.53	P;B;B;B;B;B	0.44518	0.452;0.079;0.117;0.053;0.114;0.114	T	0.20273	-1.0280	10	0.18276	T	0.48	-2.547	3.1063	0.06342	0.2666:0.0:0.4121:0.3212	.	53;53;53;53;53;53	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	53	ENSP00000357033:A53D;ENSP00000357027:A53D;ENSP00000312367:A53D;ENSP00000357030:A53D;ENSP00000353163:A53D;ENSP00000357026:A53D	ENSP00000312367:A53D	A	-	2	0	CD84	158802048	0.020000	0.18652	0.228000	0.23943	0.038000	0.13279	0.261000	0.18442	0.119000	0.18210	0.591000	0.81541	GCT		0.413	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		22	587	1	0	2.37509e-13	1	2.56396e-13	22	587					T	160535424	G	T	160535424	3	4	79	1	0	0	0	0	1	0	0	0	3051	971	34	3	907	3	CD84	1	160535424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69356	160535424	88715197	1332	11649											
CD48	962	broad.mit.edu	37	chr1	160651020	160651020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtggactgaggcagacCgtgccattcttgctgctcac	13	12	2	2	rs148599053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160651020C>T	ENST00000368046.3	-	3	711	c.624G>A	c.(622-624)acG>acA	p.T208T	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	208	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGAGGCAGACCGTGCCATTCT	0.517																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(622-624)acG>acA		CD48 molecule							105	93	97					1																	160651020		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651020C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.624G>A	1.37:g.160651020C>T						RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.T208T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	711	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		208			Ig-like C2-type 2.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.624G>A	CCDS1208.1																																																																																				0.517	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		8	413	0	0	0	1	0	8	413					T	160651020	C	T	160651020	2	4	79	1	0	0	0	0	0	0	0	1	3029	639	23	1		1	CD48	1	160651020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115596	160651020	88599601	1333	11650											
CD48	962	broad.mit.edu	37	chr1	160654834	160654834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaaatttggattcaaaGtacttagattttctggaatc	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368046.3	-	2	315	c.228C>T	c.(226-228)taC>taT	p.Y76Y	CD48_ENST00000368045.3_Silent_p.Y76Y|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	76	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(226-228)taC>taT		CD48 molecule							113	118	116					1																	160654834		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654834G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.228C>T	1.37:g.160654834G>A						CD48_ENST00000368046.3_Silent_p.Y76Y	p.Y76Y			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	267	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		76			Ig-like C2-type 1.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.228C>T	CCDS1208.1																																																																																				0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		124	535	0	0	0	1	0	124	535					A	160654834	G	A	160654834	2	1	79	1	0	0	0	0	0	0	0	1	3029	1024	36	2		2	CD48	1	160654834	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3814	160654834	88595787	1334	11651											
ITLN1	55600	broad.mit.edu	37	chr1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcccacgcatgtcattctCgtgcacgctggccaccaggg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	87	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(259-261)Gag>Aag		intelectin 1 (galactofuranose binding)							103	89	94					1																	160851893		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851893C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.259G>A	1.37:g.160851893C>T	ENSP00000323587:p.Glu87Lys						p.E87K	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	374	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		87			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.259G>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212354	0.79240	.	.	ENSG00000179914	ENST00000326245	T	0.24538	1.85	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.47857	0.1468	M	0.86502	2.82	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.58165	-0.7684	10	0.87932	D	0	-19.0439	14.0049	0.64456	0.0:1.0:0.0:0.0	.	87	Q8WWA0	ITLN1_HUMAN	K	87	ENSP00000323587:E87K	ENSP00000323587:E87K	E	-	1	0	ITLN1	159118517	0.997000	0.39634	0.461000	0.27105	0.603000	0.37013	3.878000	0.56130	2.129000	0.65627	0.655000	0.94253	GAG		0.597	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		109	314	0	0	0	1	0	109	314					T	160851893	C	T	160851893	3	4	79	1	0	0	0	0	1	0	0	0	7940	893	31	1	702	1	ITLN1	1	160851893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197059	160851893	88398728	1335	11652											
ITLN2	142683	broad.mit.edu	37	chr1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgctcttaacgtgagttCcatatccatcccagtcaaag	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	304						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(910-912)gGa>gAa		intelectin 2							75	65	69					1																	160914997		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160914997C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.911G>A	1.37:g.160914997C>T	ENSP00000357008:p.Gly304Glu					ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	p.G304E	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	968	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		304					Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.911G>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747339	0.69533	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.17	4.17	0.49024	.	0.000000	0.49305	U	0.000143	T	0.45796	0.1360	M	0.91038	3.17	0.45541	D	0.998496	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.58126	-0.7691	10	0.56958	D	0.05	-3.3575	14.3514	0.66705	0.0:1.0:0.0:0.0	.	303;304	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	304	ENSP00000357008:G304E	ENSP00000357008:G304E	G	-	2	0	ITLN2	159181621	0.999000	0.42202	0.986000	0.45419	0.492000	0.33523	2.695000	0.47043	2.014000	0.59158	0.555000	0.69702	GGA		0.557	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		48	186	0	0	0	1	0	48	186					T	160914997	C	T	160914997	3	4	79	1	0	0	0	0	1	0	0	0	7941	855	30	2	70	2	ITLN2	1	160914997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63104	160914997	88335624	1336	11653											
F11R	50848	broad.mit.edu	37	chr1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccatagctgttgcCgccttcctcagagaccatac	7	17	1	1	rs376990307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	116	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TAGCTGTTGCCGCCTTCCTCA	0.542																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(346-348)Ggc>Agc		F11 receptor		C	SER/GLY	0,4406		0,0,2203	212	146	168		346	5.2	0.9	1		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11R	NM_016946.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/300	160970463	1,13005	2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970463C>T	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.346G>A	1.37:g.160970463C>T	ENSP00000357005:p.Gly116Ser					F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	p.G116S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	620	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		116			Ig-like V-type 1.		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.346G>A	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979286	0.74360	0.0	1.16E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.39592	1.07;1.07	5.18	5.18	0.71444	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363922	0.28093	N	0.016631	T	0.46756	0.1409	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.972;0.995	P;B;B;P	0.55112	0.705;0.304;0.304;0.769	T	0.51965	-0.8638	10	0.45353	T	0.12	.	9.7562	0.40504	0.0:0.9054:0.0:0.0946	.	120;116;116;116	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	S	116;116;116;120	ENSP00000357005:G116S;ENSP00000394809:G120S	ENSP00000289779:G116S	G	-	1	0	F11R	159237087	0.989000	0.36119	0.870000	0.34147	0.947000	0.59692	3.702000	0.54800	2.392000	0.81423	0.563000	0.77884	GGC		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		70	416	0	0	0	1	0	70	416					T	160970463	C	T	160970463	3	4	79	1	0	0	0	0	1	0	0	0	5356	652	23	1	581	1	F11R	1	160970463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55466	160970463	88280158	1337	11654											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaagaggatcgagaagctCgggacccccaagccctttct	10	14	1	2	rs376108588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	983					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGAGAAGCTCGGGACCCCCA	0.592																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2947-2949)cGa>cAa		Rho GTPase activating protein 30		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	62	73	70		2948,2315	3.7	1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	983/1102,772/891	161017863	1,13005	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017863C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2948G>A	1.37:g.161017863C>T	ENSP00000356992:p.Arg983Gln					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q	p.R983Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3268	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		983					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.2948G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190700	0.58017	0.0	1.16E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37584	2.63;2.73;1.19	4.57	3.65	0.41850	.	0.000000	0.37955	N	0.001863	T	0.41328	0.1154	M	0.71581	2.175	0.27381	N	0.95541	D;P	0.89917	1.0;0.614	D;B	0.76575	0.988;0.074	T	0.26224	-1.0109	10	0.44086	T	0.13	.	10.1311	0.42680	0.0:0.8997:0.0:0.1003	.	983;772	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	772;983;806	ENSP00000356995:R772Q;ENSP00000356992:R983Q;ENSP00000356994:R806Q	ENSP00000356992:R983Q	R	-	2	0	ARHGAP30	159284487	0.847000	0.29606	0.984000	0.44739	0.632000	0.37999	2.145000	0.42207	0.890000	0.36211	0.455000	0.32223	CGA		0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		131	569	0	0	0	1	0	131	569					T	161017863	C	T	161017863	3	4	79	1	0	0	0	0	1	0	0	0	879	884	31	1	361	1	ARHGAP30	1	161017863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47400	161017863	88232758	1338	11655											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccttccagattgggggtTtaggtcccagaaggggactt	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	623					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTGGGGGTTTAGGTCCCAG	0.587																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1867-1869)aAa>aCa		Rho GTPase activating protein 30							144	143	143					1																	161018943		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018943T>G	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1868A>C	1.37:g.161018943T>G	ENSP00000356992:p.Lys623Thr					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2188	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		623					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1868A>C	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157960	0.09236	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.32988	2.98;2.96;1.43	5.18	1.3	0.21679	.	0.402704	0.20863	N	0.084316	T	0.08447	0.0210	M	0.67953	2.075	0.09310	N	1	B;P	0.37276	0.309;0.589	B;B	0.30316	0.058;0.114	T	0.25328	-1.0135	10	0.20046	T	0.44	.	4.0315	0.09711	0.0:0.1361:0.4473:0.4166	.	623;623	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	623;623;446	ENSP00000356995:K623T;ENSP00000356992:K623T;ENSP00000356994:K446T	ENSP00000356992:K623T	K	-	2	0	ARHGAP30	159285567	0.017000	0.18338	0.604000	0.28916	0.086000	0.17979	0.109000	0.15417	0.263000	0.21812	0.454000	0.30748	AAA		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		41	1147	0	0	0	1	0	41	1147					G	161018943	T	G	161018943	3	3	79	1	0	0	0	0	1	0	0	0	879	1841	64	4	1441	4	ARHGAP30	1	161018943	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1080	161018943	88231678	1339	11656											
DEDD	9191	broad.mit.edu	37	chr1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcaaacatgcggtgcaGgctgtacagcccatgttcct	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000368006.3	-	3	290	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000490843.2_Missense_Mutation_p.L26M	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	26	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGCGGTGCAGGCTGTACAGC	0.572																																						ENST00000392188.1																			0				cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(76-78)Ctg>Atg		death effector domain containing							102	94	97					1																	161094177		2203	4300	6503	SO:0001583	missense	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161094177G>T	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.76C>A	1.37:g.161094177G>T	ENSP00000356985:p.Leu26Met					DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000368006.3_Missense_Mutation_p.L26M	p.L26M			O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	310	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		26			DED.		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.76C>A	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844544	0.71488	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.13	5.13	0.70059	DEATH-like (1);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.66352	-0.5945	9	0.87932	D	0	.	9.4848	0.38922	0.0932:0.0:0.9068:0.0	.	26;26;26	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	26	.	ENSP00000356984:L26M	L	-	1	2	DEDD	159360801	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.905000	0.56333	2.669000	0.90835	0.655000	0.94253	CTG		0.572	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		76	321	1	0	6.43283e-47	1	7.91128e-47	76	321					T	161094177	G	T	161094177	3	4	79	1	0	0	0	0	1	0	0	0	4395	991	35	3	896	3	DEDD	1	161094177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75234	161094177	88156444	1340	11657											
UFC1	51506	broad.mit.edu	37	chr1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccctggtccaagatggCggatgaagccacgcgacgtg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567																																						ENST00000368003.5																			0				endometrium(1)|lung(9)	10						c.(4-6)gCg>gTg		ubiquitin-fold modifier conjugating enzyme 1							96	85	89					1																	161123792		2203	4300	6503	SO:0001583	missense	51506				protein ufmylation		protein binding|UFM1 conjugating enzyme activity	g.chr1:161123792C>T	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.5C>T	1.37:g.161123792C>T	ENSP00000356982:p.Ala2Val					UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	p.A2V	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	251	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		2					A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	37	c.5C>T	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368124	0.42003	.	.	ENSG00000143222	ENST00000368003	T	0.38722	1.12	5.98	5.07	0.68467	.	0.061965	0.64402	D	0.000006	T	0.02649	0.0080	N	0.00162	-1.95	0.49582	D	0.999807	B	0.06786	0.001	B	0.01281	0.0	T	0.45440	-0.9261	10	0.02654	T	1	-14.3177	9.4486	0.38712	0.1438:0.7842:0.0:0.072	.	2	Q9Y3C8	UFC1_HUMAN	V	2	ENSP00000356982:A2V	ENSP00000356982:A2V	A	+	2	0	UFC1	159390416	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.058000	0.57463	1.552000	0.49463	-0.154000	0.13518	GCG		0.567	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		54	259	0	0	0	1	0	54	259					T	161123792	C	T	161123792	3	4	79	1	0	0	0	0	1	0	0	0	16988	768	27	1	7	1	UFC1	1	161123792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29615	161123792	88126829	1341	11658											
USP21	27005	broad.mit.edu	37	chr1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacgtagcacttctctcCgccgcctagggggctttcct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000289865.8	+	2	693	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_ENST00000368002.3_Missense_Mutation_p.R158C|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	158					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(472-474)Cgc>Tgc		ubiquitin specific peptidase 21							55	56	56					1																	161130902		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130902C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.472C>T	1.37:g.161130902C>T	ENSP00000289865:p.Arg158Cys					USP21_ENST00000289865.8_Missense_Mutation_p.R158C|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	p.R158C	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	849	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		158					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.472C>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867316	0.72065	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	.	0.164770	0.26503	U	0.024020	T	0.19446	0.0467	N	0.08118	0	0.44162	D	0.996967	D	0.62365	0.991	P	0.47603	0.551	T	0.10800	-1.0614	10	0.72032	D	0.01	.	13.4333	0.61068	0.0:1.0:0.0:0.0	.	158	Q9UK80	UBP21_HUMAN	C	158	ENSP00000356981:R158C;ENSP00000289865:R158C;ENSP00000356980:R158C	ENSP00000289865:R158C	R	+	1	0	USP21	159397526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.538000	0.85594	0.462000	0.41574	CGC		0.652	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			68	332	0	0	0	1	0	68	332					T	161130902	C	T	161130902	3	4	79	1	0	0	0	0	1	0	0	0	17107	652	23	1	474	1	USP21	1	161130902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7110	161130902	88119719	1342	11659											
USP21	27005	broad.mit.edu	37	chr1	161133729	161133729	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgtgggtatcgctccacGaccttcgaggttttttgtga	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000289865.8	+	8	1397	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.T392T|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Silent_p.T392T|USP21_ENST00000493054.1_Intron|PPOX_ENST00000432542.2_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	392	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(1174-1176)acG>acA		ubiquitin specific peptidase 21							142	126	131					1																	161133729		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161133729G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1176G>A	1.37:g.161133729G>A						USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.T392T|USP21_ENST00000368001.1_Silent_p.T392T	p.T392T	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1553	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		392					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1176G>A	CCDS30920.1																																																																																				0.552	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			82	479	0	0	0	1	0	82	479					A	161133729	G	A	161133729	2	1	79	1	0	0	0	0	0	0	0	1	17107	1045	37	1		1	USP21	1	161133729	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2827	161133729	88116892	1343	11660											
USP21	27005	broad.mit.edu	37	chr1	161135183	161135183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccaggtggcatccagCgagggctacgtgctgttcta	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161135183C>T	ENST00000289865.8	+	13	1865	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.S548S|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Silent_p.S534S|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000432542.2_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	548	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCATCCAGCGAGGGCTACG	0.532																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(1642-1644)agC>agT		ubiquitin specific peptidase 21							66	64	65					1																	161135183		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161135183C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1644C>T	1.37:g.161135183C>T						USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S548S|USP21_ENST00000368001.1_Silent_p.S534S	p.S548S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		14	2021	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		548					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1644C>T	CCDS30920.1																																																																																				0.532	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			13	328	0	0	0	1	0	13	328					T	161135183	C	T	161135183	2	4	79	1	0	0	0	0	0	0	0	1	17107	767	27	1		1	USP21	1	161135183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1454	161135183	88115438	1344	11661											
PPOX	5498	broad.mit.edu	37	chr1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacgggagcccccctgGcctcagagtgactgtgagga	16	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	362					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CI992582	PPOX	I		c.(1084-1086)gGc>gAc		protoporphyrinogen oxidase							83	84	84					1																	161140296		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140296G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1085G>A	1.37:g.161140296G>A	ENSP00000356978:p.Gly362Asp					PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G362D	p.G362D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1351	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		362					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.1085G>A	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140231|2.140231	0.37825|0.37825	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.94280	.|-3.13;-3.13;-3.39	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Amine oxidase (1);	.|0.289920	.|0.38272	.|N	.|0.001745	D|D	0.91586|0.91586	0.7342|0.7342	L|L	0.41710|0.41710	1.295|1.295	0.34783|0.34783	D|D	0.734969|0.734969	.|B;B;P;B	.|0.42409	.|0.023;0.147;0.779;0.348	.|B;P;P;P	.|0.58970	.|0.046;0.546;0.849;0.694	D|D	0.91807|0.91807	0.5456|0.5456	5|10	.|0.51188	.|T	.|0.08	5.9863|5.9863	10.12|10.12	0.42614|0.42614	0.09:0.0:0.91:0.0|0.09:0.0:0.91:0.0	.|.	.|107;33;200;362	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	T|D	115;85|362;362;329;107	.|ENSP00000343943:G362D;ENSP00000356978:G362D;ENSP00000396841:G107D	.|ENSP00000343943:G362D	A|G	+|+	1|2	0|0	PPOX|PPOX	159406920|159406920	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.799000|0.799000	0.45148|0.45148	2.632000|2.632000	0.46511|0.46511	1.524000|1.524000	0.49035|0.49035	-0.157000|-0.157000	0.13467|0.13467	GCC|GGC		0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		99	299	0	0	0	1	0	99	299					A	161140296	G	A	161140296	3	1	79	1	0	0	0	0	1	0	0	0	12395	1203	42	2	1119	2	PPOX	1	161140296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5113	161140296	88110325	1345	11662											
B4GALT3	8703	broad.mit.edu	37	chr1	161144912	161144912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctgttcgggagcggggCtcacaacctgcagggcggta	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161144912C>T	ENST00000319769.5	-	4	582	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.E120E|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	120					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGAGCGGGGCTCACAACCTG	0.647																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(358-360)gaG>gaA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						87	87	87					1																	161144912		2203	4300	6503	SO:0001819	synonymous_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161144912C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.360G>A	1.37:g.161144912C>T						PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.E120E|B4GALT3_ENST00000470882.1_5'UTR	p.E120E	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	582	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		120					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Silent	SNP	ENST00000319769.5	37	c.360G>A	CCDS1222.1																																																																																				0.647	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		23	868	0	0	0	1	0	23	868					T	161144912	C	T	161144912	2	4	79	1	0	0	0	0	0	0	0	1	1273	796	28	2		2	B4GALT3	1	161144912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	161144912	88105709	1346	11663											
ADAMTS4	9507	broad.mit.edu	37	chr1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatctggcagcttcaggGccaagtagatgctccggtgg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	728	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGCTTCAGGGCCAAGTAGAT	0.597																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(2182-2184)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							68	69	68					1																	161161259		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161161259G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2183C>T	1.37:g.161161259G>A	ENSP00000356975:p.Ala728Val						p.A728V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	2611	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		728			Spacer.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.2183C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867031	0.91511	.	.	ENSG00000158859	ENST00000367996	T	0.63255	-0.03	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.088861	0.46758	D	0.000278	T	0.67813	0.2933	M	0.78801	2.425	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	T	0.74281	-0.3716	10	0.87932	D	0	.	16.2366	0.82380	0.0:0.0:1.0:0.0	.	728	O75173	ATS4_HUMAN	V	728	ENSP00000356975:A728V	ENSP00000356975:A728V	A	-	2	0	ADAMTS4	159427883	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.382000	0.79729	2.428000	0.82296	0.561000	0.74099	GCC		0.597	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		87	399	0	0	0	1	0	87	399					A	161161259	G	A	161161259	3	1	79	1	0	0	0	0	1	0	0	0	268	1203	42	2	334	2	ADAMTS4	1	161161259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16347	161161259	88089362	1347	11664											
ADAMTS4	9507	broad.mit.edu	37	chr1	161168079	161168079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcagctcaggcgcctgGcccaggtactgcactgtcag	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_ENST00000367995.3_Silent_p.G113G|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	113					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGGCGCCTGGCCCAGGTACT	0.642																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(337-339)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 4							41	41	41					1																	161168079		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161168079G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.339C>T	1.37:g.161168079G>A						ADAMTS4_ENST00000367995.3_Silent_p.G113G	p.G113G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	767	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		113					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.339C>T	CCDS1223.1																																																																																				0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		35	282	0	0	0	1	0	35	282					A	161168079	G	A	161168079	2	1	79	1	0	0	0	0	0	0	0	1	268	1190	42	2		2	ADAMTS4	1	161168079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6820	161168079	88082542	1348	11665											
NR1I3	9970	broad.mit.edu	37	chr1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacagaaagtggtattgaGtacgatgtgacagatttcca	12	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000367982.4	-	6	771	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	206					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGGTATTGAGTACGATGTGA	0.483																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(616-618)Ctc>Ttc		nuclear receptor subfamily 1, group I, member 3							142	136	138					1																	161201197		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161201197G>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.616C>T	1.37:g.161201197G>A	ENSP00000356961:p.Leu206Phe					NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367982.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F	p.L206F			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	910	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		206					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.616C>T	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.277226	0.01410	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.73	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.213818	0.49305	N	0.000146	D	0.91848	0.7420	N	0.21508	0.67	0.36247	D	0.853640	B;B;D;B;P;B;P;B;D;B;B;B;D;B;B;P;P;D	0.89917	0.107;0.075;1.0;0.01;0.462;0.01;0.752;0.019;1.0;0.12;0.082;0.101;1.0;0.019;0.143;0.572;0.758;1.0	B;B;D;B;B;B;B;B;D;B;B;B;D;B;B;B;B;D	0.97110	0.103;0.055;1.0;0.016;0.115;0.011;0.333;0.033;1.0;0.161;0.048;0.048;1.0;0.033;0.035;0.186;0.285;0.999	D	0.88290	0.2942	9	0.16420	T	0.52	.	11.6402	0.51228	0.0:0.0:0.5307:0.4693	.	206;177;177;206;206;206;206;206;206;206;131;177;177;177;177;177;177;206	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	F	177;206;206;177;206;177;206;206;177;206;177;177;177;131;206;206;206;177;206	ENSP00000425417:L177F;ENSP00000356962:L206F;ENSP00000356959:L206F;ENSP00000407446:L177F;ENSP00000406493:L206F;ENSP00000399361:L177F;ENSP00000412672:L206F;ENSP00000424934:L206F;ENSP00000423666:L177F;ENSP00000356961:L206F;ENSP00000424345:L177F;ENSP00000427175:L177F;ENSP00000356960:L177F;ENSP00000421588:L131F;ENSP00000356963:L206F;ENSP00000356965:L206F;ENSP00000356958:L206F;ENSP00000423089:L177F;ENSP00000427034:L206F	ENSP00000356958:L206F	L	-	1	0	NR1I3	159467821	0.996000	0.38824	0.276000	0.24689	0.457000	0.32468	2.861000	0.48380	0.282000	0.22254	-0.293000	0.09583	CTC		0.483	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			143	399	0	0	0	1	0	143	399					A	161201197	G	A	161201197	3	1	79	1	0	0	0	0	1	0	0	0	10663	1029	36	2	568	2	NR1I3	1	161201197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33118	161201197	88049424	1349	11666											
MPZ	4359	broad.mit.edu	37	chr1	161277072	161277072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcatctctgcccccttcGggctggtagcgccaggtgaa	13	13	1	1	rs545129173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000336559.4_Silent_p.P70P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	70	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCCCTTCGGGCTGGTAGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.001					ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(208-210)ccC>ccT		myelin protein zero							51	45	47					1																	161277072		2203	4300	6503	SO:0001819	synonymous_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161277072G>A	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.210C>T	1.37:g.161277072G>A						MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000360451.6_Silent_p.P80P	p.P70P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	276	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	70			Ig-like V-type.		Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	37	c.210C>T	CCDS1229.2																																																																																				0.552	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		34	181	0	0	0	1	0	34	181					A	161277072	G	A	161277072	2	1	79	1	0	0	0	0	0	0	0	1	9789	1103	39	1		1	MPZ	1	161277072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75875	161277072	87973549	1350	11667											
FCGR2A	2212	broad.mit.edu	37	chr1	161483694	161483694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccacagccaattccaCtgatcctgtgaaggctgccc	7	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161483694C>T	ENST00000271450.6	+	6	790	c.752C>T	c.(751-753)aCt>aTt	p.T251I	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	251					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCAATTCCACTGATCCTGTG	0.502																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(751-753)aCt>aTt		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						307	302	304					1																	161483694		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161483694C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.752C>T	1.37:g.161483694C>T	ENSP00000271450:p.Thr251Ile					FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I|FCGR2A_ENST00000467525.1_Intron|FCGR2A_ENST00000461298.1_5'UTR	p.T251I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	790	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		251					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.752C>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	9.031	0.987260	0.18889	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01821	4.62;4.62	2.16	0.207	0.15214	.	0.547369	0.14986	N	0.286962	T	0.00695	0.0023	L	0.55481	1.735	0.21604	N	0.999625	P;P	0.43352	0.704;0.804	B;B	0.37550	0.183;0.253	T	0.52631	-0.8550	9	0.45353	T	0.12	.	4.3943	0.11355	0.0:0.6442:0.0:0.3558	.	251;250	P12318;P12318-2	FCG2A_HUMAN;.	I	250;251	ENSP00000356949:T250I;ENSP00000271450:T251I	ENSP00000271450:T251I	T	+	2	0	FCGR2A	159750318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.148000	0.16224	0.044000	0.15775	-0.291000	0.09656	ACT		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		34	1143	0	0	0	1	0	34	1143					T	161483694	C	T	161483694	3	4	79	1	0	0	0	0	1	0	0	0	5806	565	20	2	774	2	FCGR2A	1	161483694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206622	161483694	87766927	1351	11668											
FCGR2A	2212	broad.mit.edu	37	chr1	161487824	161487824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagaaaccaacaatgaCtatgaaacagctgacggcgg	10	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(838-840)gaC>gaT		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						99	100	100					1																	161487824		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487824C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.840C>T	1.37:g.161487824C>T						FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_Silent_p.D15D	p.D280D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	878	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		280					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.840C>T	CCDS44264.1																																																																																				0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		95	273	0	0	0	1	0	95	273					T	161487824	C	T	161487824	2	4	79	1	0	0	0	0	0	0	0	1	5806	564	20	2		2	FCGR2A	1	161487824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4130	161487824	87762797	1352	11669											
FCGR2A	2212	broad.mit.edu	37	chr1	161487866	161487866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgactctgaaccccagGgcacctactgacgatgataa	8	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487866G>A	ENST00000271450.6	+	7	920	c.882G>A	c.(880-882)agG>agA	p.R294R	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	294					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAACCCCAGGGCACCTACTG	0.448																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(880-882)agG>agA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						70	72	71					1																	161487866		2203	4297	6500	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487866G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.882G>A	1.37:g.161487866G>A						FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_Silent_p.R29R	p.R294R	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	920	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		294					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.882G>A	CCDS44264.1																																																																																				0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		74	378	0	0	0	1	0	74	378					A	161487866	G	A	161487866	2	1	79	1	0	0	0	0	0	0	0	1	5806	1223	43	2		2	FCGR2A	1	161487866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	161487866	87762755	1353	11670											
HSPA6	3310	broad.mit.edu	37	chr1	161494843	161494843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcaagatgaaggagaCggccgaggcgtacctgggcc	17	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161494843C>T	ENST00000309758.4	+	1	808	c.395C>T	c.(394-396)aCg>aTg	p.T132M	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	132					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)			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)			ATGAAGGAGACGGCCGAGGCG	0.652																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(394-396)aCg>aTg		heat shock 70kDa protein 6 (HSP70B')							18	20	19					1																	161494843		2189	4277	6466	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494843C>T		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.395C>T	1.37:g.161494843C>T	ENSP00000310219:p.Thr132Met						p.T132M	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	808	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		132					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.395C>T	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.235850	0.22626	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.12	0.154	0.14901	.	0.000000	0.40908	U	0.000996	T	0.02193	0.0068	M	0.92507	3.315	0.31186	N	0.701505	D	0.59767	0.986	P	0.55999	0.789	T	0.09707	-1.0662	9	0.87932	D	0	-24.4216	6.6142	0.22769	0.0:0.6496:0.0:0.3504	.	132	P17066	HSP76_HUMAN	M	132;108	ENSP00000310219:T132M	ENSP00000310219:T132M	T	+	2	0	HSPA6	159761467	0.914000	0.31030	0.129000	0.21949	0.160000	0.22226	1.551000	0.36233	-0.194000	0.10399	-0.480000	0.04831	ACG		0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		6	148	0	0	0	1	0	6	148					T	161494843	C	T	161494843	3	4	79	1	0	0	0	0	1	0	0	0	7445	536	19	1	397	1	HSPA6	1	161494843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6977	161494843	87755778	1354	11671											
HSPA6	3310	broad.mit.edu	37	chr1	161495182	161495182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgaaccacttcatggAagaattccggcggaagcatg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	ENST00000309758.4	+	1	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	245					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)			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)			CACTTCATGGAAGAATTCCGG	0.612																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(733-735)gAa>gCa		heat shock 70kDa protein 6 (HSP70B')							11	12	12					1																	161495182		2196	4261	6457	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495182A>C		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.734A>C	1.37:g.161495182A>C	ENSP00000310219:p.Glu245Ala						p.E245A	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1147	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		245					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.734A>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	2.387	-0.340732	0.05243	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10573	2.86	3.33	2.14	0.27477	.	0.328529	0.21359	U	0.075823	T	0.01940	0.0061	N	0.13299	0.325	0.39726	D	0.971536	B	0.20550	0.046	B	0.28784	0.094	T	0.41645	-0.9497	10	0.18276	T	0.48	.	7.5452	0.27761	0.781:0.2189:0.0:0.0	.	245	P17066	HSP76_HUMAN	A	245;221	ENSP00000310219:E245A	ENSP00000310219:E245A	E	+	2	0	HSPA6	159761806	0.450000	0.25697	0.014000	0.15608	0.037000	0.13140	1.070000	0.30653	0.326000	0.23384	0.478000	0.44815	GAA		0.612	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		21	120	0	0	0	1	0	21	120					C	161495182	A	C	161495182	3	2	79	1	0	0	0	0	1	0	0	0	7445	246	9	4	736	4	HSPA6	1	161495182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	339	161495182	87755439	1355	11672											
HSPA6	3310	broad.mit.edu	37	chr1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgctcagacctcttccGcagcaccctggagccggtgg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					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)			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)			GACCTCTTCCGCAGCACCCTG	0.632																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(937-939)cGc>cAc		heat shock 70kDa protein 6 (HSP70B')							20	23	22					1																	161495386		2201	4295	6496	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495386G>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.938G>A	1.37:g.161495386G>A	ENSP00000310219:p.Arg313His						p.R313H	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1351	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		313					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.938G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509864	0.64522	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	3.12	0.35913	.	0.187022	0.25919	U	0.027454	T	0.04815	0.0130	M	0.90922	3.16	0.44110	D	0.99688	D	0.89917	1.0	D	0.91635	0.999	T	0.02691	-1.1123	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	313	P17066	HSP76_HUMAN	H	313;289	ENSP00000310219:R313H	ENSP00000310219:R313H	R	+	2	0	HSPA6	159762010	1.000000	0.71417	0.930000	0.37139	0.643000	0.38383	5.496000	0.66918	1.544000	0.49359	0.543000	0.68304	CGC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		34	152	0	0	0	1	0	34	152					A	161495386	G	A	161495386	3	1	79	1	0	0	0	0	1	0	0	0	7445	1087	38	1	940	1	HSPA6	1	161495386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	161495386	87755235	1356	11673											
FCGR3B	2214	broad.mit.edu	37	chr1	161596176	161596176	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacacccaccgaggggcCtggagcaacagccagcctga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161596176C>A	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.Q112H|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCGAGGGGCCTGGAGCAACA	0.562																																						ENST00000294800.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(334-336)caG>caT		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						37	40	39					1																	161596176		2191	4299	6490	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596176C>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3981G>T	1.37:g.161596176C>A						FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H	p.Q112H	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	609	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		112					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.336G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	19.28|19.28	3.797116|3.797116	0.70567|0.70567	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;3.61	2.47|2.47	2.47|2.47	0.30058|0.30058	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.49305	.|D	.|0.000149	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.93550|0.93550	3.43|3.43	0.31755|0.31755	N|N	0.634041|0.634041	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.87932	.|D	.|0	.|.	8.4977|8.4977	0.33138|0.33138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112	.|O75015	.|FCG3B_HUMAN	C|H	133|112;112;148;95	.|ENSP00000356941:Q112H;ENSP00000294800:Q112H;ENSP00000433642:Q148H;ENSP00000437084:Q95H	.|ENSP00000294800:Q112H	G|Q	-|-	1|3	0|2	FCGR3B|FCGR3B	159862800|159862800	0.274000|0.274000	0.24191|0.24191	0.635000|0.635000	0.29338|0.29338	0.845000|0.845000	0.48019|0.48019	0.374000|0.374000	0.20501|0.20501	1.383000|1.383000	0.46405|0.46405	0.393000|0.393000	0.25936|0.25936	GGC|CAG		0.562	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		31	141	1	0	7.11191e-15	1	7.74586e-15	31	141					A	161596176	C	A	161596176	1	1	79	0	1	0	0	0	0	0	0	0	5810	680	24	3		3	FCGR3B	1	161596176	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100790	161596176	87654445	1357	11674											
FCRLB	127943	broad.mit.edu	37	chr1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcaccatgcgcatccCggtggagagcgcgcccatgt	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	175	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCGCATCCCGGTGGAGAGC	0.637											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(523-525)cCg>cTg		Fc receptor-like B							35	37	36					1																	161695827		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161695827C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.524C>T	1.37:g.161695827C>T	ENSP00000356925:p.Pro175Leu		OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1818	FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L	p.P175L			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	739	+	all_hematologic(112;0.0359)		175			Ig-like C2-type 2.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.524C>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547364	0.86022	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82;5.82	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.256742	0.27715	N	0.018148	T	0.01189	0.0039	L	0.36672	1.1	0.50039	D	0.999846	D;D;D;D;D	0.89917	0.981;1.0;0.999;0.994;1.0	B;D;P;P;D	0.87578	0.43;0.998;0.864;0.764;0.987	T	0.75260	-0.3380	10	0.48119	T	0.1	.	12.7124	0.57098	0.0:1.0:0.0:0.0	.	168;168;175;175;175	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	L	175;175;168;175;168;175	ENSP00000356925:P175L;ENSP00000356923:P175L;ENSP00000356922:P168L;ENSP00000338598:P175L;ENSP00000356921:P168L;ENSP00000375999:P175L	ENSP00000338598:P175L	P	+	2	0	FCRLB	159962451	0.946000	0.32159	0.995000	0.50966	0.976000	0.68499	2.163000	0.42377	2.038000	0.60285	0.455000	0.32223	CCG		0.637	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		51	254	0	0	0	1	0	51	254					T	161695827	C	T	161695827	3	4	79	1	0	0	0	0	1	0	0	0	5826	652	23	1	538	1	FCRLB	1	161695827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99651	161695827	87554794	1358	11675											
DUSP12	11266	broad.mit.edu	37	chr1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcatgcaggagtcagtcGaagtgtggccataataactg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	121	Tyrosine-protein phosphatase.				cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(361-363)cGa>cAa		dual specificity phosphatase 12							131	133	132					1																	161721475		2203	4300	6503	SO:0001583	missense	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161721475G>A	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.362G>A	1.37:g.161721475G>A	ENSP00000356920:p.Arg121Gln					DUSP12_ENST00000484291.1_3'UTR	p.R121Q	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		2	394	+	all_hematologic(112;0.0359)		121			Tyrosine-protein phosphatase.		Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	c.362G>A	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300539	0.81136	.	.	ENSG00000081721	ENST00000367943	D	0.98345	-4.88	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97918	4.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	9	0.87932	D	0	.	16.2929	0.82759	0.0:0.0:1.0:0.0	.	121	Q9UNI6	DUS12_HUMAN	Q	121	ENSP00000356920:R121Q	ENSP00000356920:R121Q	R	+	2	0	DUSP12	159988099	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.939000	0.87685	2.504000	0.84457	0.479000	0.44913	CGA		0.388	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		123	579	0	0	0	1	0	123	579					A	161721475	G	A	161721475	3	1	79	1	0	0	0	0	1	0	0	0	4828	1058	37	1	368	1	DUSP12	1	161721475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25648	161721475	87529146	1359	11676											
ATF6	22926	broad.mit.edu	37	chr1	161821543	161821543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttcaaatgacaaagccCtgatggtgctaactgaagaa	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	451					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGACAAAGCCCTGATGGTGCT	0.368																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1351-1353)Ctg>Ttg		activating transcription factor 6							215	195	202					1																	161821543		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161821543C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1351C>T	1.37:g.161821543C>T						ATF6_ENST00000476437.1_3'UTR	p.L451L	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		11	1418	+	all_hematologic(112;0.156)		451					O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1351C>T	CCDS1235.1																																																																																				0.368	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		140	752	0	0	0	1	0	140	752					T	161821543	C	T	161821543	2	4	79	1	0	0	0	0	0	0	0	1	1085	680	24	2		2	ATF6	1	161821543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100068	161821543	87429078	1360	11677											
OLFML2B	25903	broad.mit.edu	37	chr1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcctctgcaggggcCgctgtgacttcaccacctca	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000294794.3	-	5	1253	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	277					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTGCAGGGGCCGCTGTGACTT	0.607																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(829-831)cGg>cAg		olfactomedin-like 2B							54	55	54					1																	161970022		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161970022C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.830G>A	1.37:g.161970022C>T	ENSP00000294794:p.Arg277Gln					OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	p.R277Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		5	1253	-	all_hematologic(112;0.156)		277					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.830G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014654	0.35511	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86627	-2.15;-2.15	5.22	2.2	0.27929	.	.	.	.	.	T	0.50034	0.1592	N	0.08118	0	0.26593	N	0.973169	B;B	0.13594	0.008;0.006	B;B	0.06405	0.001;0.002	T	0.04509	-1.0946	8	0.18276	T	0.48	.	5.8403	0.18629	0.0:0.5323:0.2982:0.1695	.	278;277	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Q	277;278	ENSP00000294794:R277Q;ENSP00000356917:R278Q	ENSP00000294794:R277Q	R	-	2	0	OLFML2B	160236646	0.722000	0.28017	0.959000	0.39883	0.888000	0.51559	0.307000	0.19296	0.172000	0.19760	0.561000	0.74099	CGG		0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		73	409	0	0	0	1	0	73	409					T	161970022	C	T	161970022	3	4	79	1	0	0	0	0	1	0	0	0	10900	652	23	1	1438	1	OLFML2B	1	161970022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148479	161970022	87280599	1361	11678											
NOS1AP	9722	broad.mit.edu	37	chr1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgttgttcctgcaggcCgccagctcactggagccgag	12	16	1	0	rs370293556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	200					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCTGCAGGCCGCCAGCTCAC	0.552																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(598-600)Cgc>Tgc		nitric oxide synthase 1 (neuronal) adaptor protein		C	CYS/ARG,CYS/ARG	3,4403	8.1+/-20.4	0,3,2200	56	57	57		583,598	4.5	1	1		57	0,8600		0,0,4300	no	missense,missense	NOS1AP	NM_001164757.1,NM_014697.2	180,180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	195/502,200/507	162324979	3,13003	2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162324979C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.598C>T	1.37:g.162324979C>T	ENSP00000355133:p.Arg200Cys					NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	p.R200C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		7	1000	+	all_hematologic(112;0.203)		200					B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.598C>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718500	0.48622	6.81E-4	0.0	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.18;-1.18	5.41	4.49	0.54785	.	0.258632	0.40144	N	0.001173	T	0.42314	0.1197	N	0.13003	0.285	.	.	.	B;B;B	0.23591	0.088;0.018;0.018	B;B;B	0.08055	0.003;0.003;0.003	T	0.39921	-0.9590	9	0.45353	T	0.12	.	7.3999	0.26958	0.0:0.8359:0.0:0.1641	.	195;195;200	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	195;200	ENSP00000431586:R195C;ENSP00000355133:R200C	ENSP00000355133:R200C	R	+	1	0	NOS1AP	160591603	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.114000	0.41911	2.523000	0.85059	0.655000	0.94253	CGC		0.552	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		80	457	0	0	0	1	0	80	457					T	162324979	C	T	162324979	3	4	79	1	0	0	0	0	1	0	0	0	10584	652	23	1	624	1	NOS1AP	1	162324979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	354957	162324979	86925642	1362	11679											
C1orf111	284680	broad.mit.edu	37	chr1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctcttgatgtggcTcttgaggaagtccagggtgg	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602																																						ENST00000367935.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(598-600)Agc>Cgc		chromosome 1 open reading frame 111							116	115	115					1																	162344026		2203	4300	6503	SO:0001583	missense	284680							g.chr1:162344026T>G	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.598A>C	1.37:g.162344026T>G	ENSP00000356912:p.Ser200Arg					RP11-565P22.6_ENST00000431696.1_Intron	p.S200R	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	677	-	all_hematologic(112;0.15)		200					Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	c.598A>C	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646307	0.67358	.	.	ENSG00000171722	ENST00000367935	T	0.31510	1.49	5.14	4.02	0.46733	.	0.141394	0.50627	D	0.000109	T	0.31979	0.0814	M	0.72118	2.19	0.29686	N	0.84129	D	0.55385	0.971	P	0.58454	0.839	T	0.26780	-1.0093	9	0.46703	T	0.11	-30.4254	8.3206	0.32126	0.0:0.0907:0.0:0.9093	.	200	Q5T0L3	CA111_HUMAN	R	200	ENSP00000356912:S200R	ENSP00000356912:S200R	S	-	1	0	C1orf111	160610650	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.535000	0.36061	0.811000	0.34303	0.533000	0.62120	AGC		0.602	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		246	713	0	0	0	1	0	246	713					G	162344026	T	G	162344026	3	3	79	1	0	0	0	0	1	0	0	0	1991	1551	54	4	191	4	C1orf111	1	162344026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19047	162344026	86906595	1363	11680											
UHMK1	127933	broad.mit.edu	37	chr1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaccaccggggctgcgGcctctgccgccgagtatggt	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(196-198)Gcc>Acc		U2AF homology motif (UHM) kinase 1							16	18	17					1																	162467986		2202	4300	6502	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162467986G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.196G>A	1.37:g.162467986G>A	ENSP00000420270:p.Ala66Thr					UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron	p.A66T	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	354	+	all_hematologic(112;0.115)		66			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.196G>A	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983902	0.53827	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.65732	-0.17;-0.17	4.94	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177523	0.50627	D	0.000113	T	0.34019	0.0883	L	0.41079	1.255	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.41790	T	0.15	-7.9138	10.5334	0.44990	0.0:0.0:0.8071:0.1929	.	66;66	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	T	66	ENSP00000446416:A66T;ENSP00000420270:A66T	ENSP00000420270:A66T	A	+	1	0	UHMK1	160734610	.	.	0.596000	0.28811	0.984000	0.73092	.	.	1.368000	0.46115	0.655000	0.94253	GCC		0.642	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		53	151	0	0	0	1	0	53	151					A	162467986	G	A	162467986	3	1	79	1	0	0	0	0	1	0	0	0	17020	1203	42	2	248	2	UHMK1	1	162467986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123960	162467986	86782635	1364	11681											
DDR2	4921	broad.mit.edu	37	chr1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctggaggcagttctgGcagaaaatgctggagaaggt	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	425					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)			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)	GGCAGTTCTGGCAGAAAATGC	0.473																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1273-1275)tgG>tgA		discoidin domain receptor tyrosine kinase 2							97	88	91					1																	162737131		2203	4300	6503	SO:0001587	stop_gained	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162737131G>A	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.1275G>A	1.37:g.162737131G>A	ENSP00000356899:p.Trp425*					DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		12	1713	+	all_hematologic(112;0.115)		425					Q7Z730	Nonsense_Mutation	SNP	ENST00000367922.3	37	c.1275G>A	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.272855|6.272855	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56963|.	0.2021|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50915|.	-0.8771|.	3|.	.|0.18276	.|T	.|0.48	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	18|425;425;35	.|.	.|ENSP00000356898:W425X	A|W	+|+	1|3	0|0	DDR2|DDR2	161003755|161003755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		61	325	0	0	0	1	0	61	325					A	162737131	G	A	162737131	4	1	79	1	0	0	0	0	0	1	0	0	4348	1212	42	2	1309	2	DDR2	1	162737131	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269145	162737131	86513490	1365	11682											
C1orf110	339512	broad.mit.edu	37	chr1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccatctggctttagagCaacatcttttgatctggtct	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(643-645)Gct>Act		chromosome 1 open reading frame 110							189	173	178					1																	162824821		1953	4181	6134	SO:0001583	missense	339512							g.chr1:162824821C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.643G>A	1.37:g.162824821C>T	ENSP00000356886:p.Ala215Thr					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.1_Intron	p.A215T	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	763	-			215					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.643G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-0.526	0.11913	.	1.624330	0.03204	N	0.175223	T	0.10895	0.0266	N	0.19112	0.55	0.22888	N	0.998608	B	0.10296	0.003	B	0.10450	0.005	T	0.17228	-1.0376	8	0.30854	T	0.27	-0.394	7.2838	0.26326	0.0:0.5225:0.0:0.4775	.	215	Q86UF4	CA110_HUMAN	T	215	.	ENSP00000356886:A215T	A	-	1	0	C1orf110	161091445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.340000	0.02650	-0.025000	0.13918	-0.302000	0.09304	GCT		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		81	472	0	0	0	1	0	81	472					T	162824821	C	T	162824821	3	4	79	1	0	0	0	0	1	0	0	0	1990	710	25	2	269	2	C1orf110	1	162824821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87690	162824821	86425800	1366	11683											
PBX1	5087	broad.mit.edu	37	chr1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcttctggaggggcaGgttcagacaactcagtggag	17	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000420696.2	+	3	606	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	140					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(418-420)Ggt>Tgt		pre-B-cell leukemia homeobox 1							24	30	28					1																	164761883		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761883G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.418G>T	1.37:g.164761883G>T	ENSP00000405890:p.Gly140Cys					PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C	p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	606	+			140					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.418G>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460001	0.84317	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.89552	0.82;-2.43;-2.3;-2.44;-2.3;-2.53	5.23	5.23	0.72850	PBX (1);	0.048778	0.85682	D	0.000000	D	0.89476	0.6726	L	0.46157	1.445	0.09310	N	1.0	P;P;P;P;P	0.48089	0.783;0.633;0.905;0.755;0.865	P;P;P;P;P	0.55667	0.684;0.726;0.605;0.726;0.781	D	0.89976	0.4097	9	0.54805	T	0.06	-8.2112	18.3959	0.90497	0.0:0.0:1.0:0.0	.	35;140;140;140;140	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	C	140;140;140;140;140;35	ENSP00000341455:G140C;ENSP00000405890:G140C;ENSP00000356872:G140C;ENSP00000439943:G140C;ENSP00000384856:G140C;ENSP00000440869:G35C	ENSP00000341455:G140C	G	+	1	0	PBX1	163028507	1.000000	0.71417	0.823000	0.32752	0.934000	0.57294	4.592000	0.61027	2.405000	0.81733	0.563000	0.77884	GGT		0.602	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		86	207	1	0	2.67039e-37	1	3.20554e-37	86	207					T	164761883	G	T	164761883	3	4	79	1	0	0	0	0	1	0	0	0	11534	1000	35	3	428	3	PBX1	1	164761883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1937062	164761883	84488738	1367	11684											
PBX1	5087	broad.mit.edu	37	chr1	164781364	164781364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaagccaagctaactcGccctcaactcccaactcggc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000420696.2	+	6	1163	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	325					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(973-975)tcG>tcA		pre-B-cell leukemia homeobox 1							105	83	91					1																	164781364		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164781364G>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.975G>A	1.37:g.164781364G>A						PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S	p.S325S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			6	1163	+			325					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.975G>A	CCDS1246.1																																																																																				0.443	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		72	229	0	0	0	1	0	72	229					A	164781364	G	A	164781364	2	1	79	1	0	0	0	0	0	0	0	1	11534	1074	38	1		1	PBX1	1	164781364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19481	164781364	84469257	1368	11685											
PBX1	5087	broad.mit.edu	37	chr1	164789358	164789358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagatttgttcatgagCgtgcagtcactcaatgggga	13	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000420696.2	+	7	1235	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	349					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1045-1047)agC>agT		pre-B-cell leukemia homeobox 1							93	92	92					1																	164789358		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789358C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1047C>T	1.37:g.164789358C>T						PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron	p.S349S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			7	1235	+			349					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.1047C>T	CCDS1246.1																																																																																				0.483	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		59	387	0	0	0	1	0	59	387					T	164789358	C	T	164789358	2	4	79	1	0	0	0	0	0	0	0	1	11534	767	27	1		1	PBX1	1	164789358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7994	164789358	84461263	1369	11686											
LMX1A	4009	broad.mit.edu	37	chr1	165173188	165173188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactctggactgcagagGcccagcttctgaggttgcta	11	13	2	2	rs553925894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165173188G>A	ENST00000342310.3	-	9	1460	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S|LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	360					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTGCAGAGGCCCAGCTTCT	0.517																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(1078-1080)Cct>Tct		LIM homeobox transcription factor 1, alpha							107	106	106					1																	165173188		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165173188G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1078C>T	1.37:g.165173188G>A	ENSP00000340226:p.Pro360Ser					LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S	p.P360S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			9	1460	-	all_hematologic(923;0.248)		360					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.1078C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445320	0.04604	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.85484	-1.99;-1.99;-1.99	5.14	4.23	0.50019	.	0.226533	0.46758	D	0.000266	T	0.41236	0.1150	N	0.02539	-0.55	0.42593	D	0.993256	B	0.14438	0.01	B	0.09377	0.004	T	0.17258	-1.0375	9	0.13853	T	0.58	.	6.621	0.22802	0.1581:0.1485:0.6935:0.0	.	360	Q8TE12	LMX1A_HUMAN	S	360	ENSP00000340226:P360S;ENSP00000294816:P360S;ENSP00000356868:P360S	ENSP00000294816:P360S	P	-	1	0	LMX1A	163439812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.203000	0.58453	1.392000	0.46585	0.561000	0.74099	CCT		0.517	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		13	506	0	0	0	1	0	13	506					A	165173188	G	A	165173188	3	1	79	1	0	0	0	0	1	0	0	0	8894	1203	42	2	74	2	LMX1A	1	165173188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383830	165173188	84077433	1370	11687											
LMX1A	4009	broad.mit.edu	37	chr1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttctcggacgtttggggCgcttatggtccttgccttcc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(580-582)cGc>cAc		LIM homeobox transcription factor 1, alpha							243	219	227					1																	165182966		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165182966C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.581G>A	1.37:g.165182966C>T	ENSP00000340226:p.Arg194His					LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H	p.R194H	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			5	963	-	all_hematologic(923;0.248)		194					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.581G>A	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551736	0.96501	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95949	-3.86;-3.86;-3.86	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.52011	1.625	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	D	0.96037	0.9021	9	0.46703	T	0.11	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	H	194	ENSP00000340226:R194H;ENSP00000294816:R194H;ENSP00000356868:R194H	ENSP00000294816:R194H	R	-	2	0	LMX1A	163449590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.284000	0.78650	2.637000	0.89404	0.650000	0.86243	CGC		0.502	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		279	814	0	0	0	1	0	279	814					T	165182966	C	T	165182966	3	4	79	1	0	0	0	0	1	0	0	0	8894	768	27	1	587	1	LMX1A	1	165182966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9778	165182966	84067655	1371	11688											
LRRC52	440699	broad.mit.edu	37	chr1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcccaagaagtaatctGcacagggaagcagttaaccg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	39	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(115-117)tGc>tAc		leucine rich repeat containing 52							116	116	116					1																	165513649		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165513649G>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.116G>A	1.37:g.165513649G>A	ENSP00000294818:p.Cys39Tyr					RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	p.C39Y	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			1	406	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		39			LRRNT.		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.116G>A	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995109	0.54041	.	.	ENSG00000162763	ENST00000294818	D	0.99985	-11.65	4.91	4.91	0.64330	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95043	3.615	0.34146	D	0.667017	D	0.89917	1.0	D	0.97110	1.0	D	0.99976	1.2192	9	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	39	Q8N7C0	LRC52_HUMAN	Y	39	ENSP00000294818:C39Y	ENSP00000294818:C39Y	C	+	2	0	LRRC52	163780273	1.000000	0.71417	0.919000	0.36401	0.422000	0.31414	8.837000	0.92110	2.561000	0.86390	0.563000	0.77884	TGC		0.502	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		46	632	0	0	0	1	0	46	632					A	165513649	G	A	165513649	3	1	79	1	0	0	0	0	1	0	0	0	9048	1319	46	2	118	2	LRRC52	1	165513649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330683	165513649	83736972	1372	11689											
ALDH9A1	223	broad.mit.edu	37	chr1	165634286	165634286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccaccaaagggcaactcCactgggctgacgttatagtt	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALDH9A1_ENST00000538148.1_Silent_p.V383V|Y_RNA_ENST00000384263.1_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	453					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGGGCAACTCCACTGGGCTGA	0.458																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1429-1431)gtG>gtT		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						114	96	102					1																	165634286		2203	4300	6503	SO:0001819	synonymous_variant	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165634286C>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1431G>T	1.37:g.165634286C>A						ALDH9A1_ENST00000538148.1_Silent_p.V383V	p.V477V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			10	1735	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		453					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	c.1431G>T	CCDS1250.2																																																																																				0.458	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			42	270	1	0	3.43241e-23	1	3.89856e-23	42	270					A	165634286	C	A	165634286	2	1	79	1	0	0	0	0	0	0	0	1	506	581	21	3		3	ALDH9A1	1	165634286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120637	165634286	83616335	1373	11690											
TMCO1	54499	broad.mit.edu	37	chr1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacagagaatatacaggaAaatgaaggaacagtctgtgg	12	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000392129.6	-	6	583	c.433T>G	c.(433-435)Ttc>Gtc	p.F145V	TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	145						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(586-588)Ttc>Gtc		transmembrane and coiled-coil domains 1							94	92	93					1																	165712439		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712439A>C	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.433T>G	1.37:g.165712439A>C	ENSP00000375975:p.Phe145Val					TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000392129.6_Missense_Mutation_p.F145V	p.F196V			Q9UM00	TMCO1_HUMAN			6	861	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		145					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.586T>G		.	.	.	.	.	.	.	.	.	.	A	27.0	4.792056	0.90453	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.93594	3.435	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82989	-0.0183	8	0.51188	T	0.08	.	10.3335	0.43837	0.9235:0.0:0.0765:0.0	.	133;145	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	145;126	.	ENSP00000356856:F145V	F	-	1	0	TMCO1	163979063	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.827000	0.92041	1.160000	0.42584	0.533000	0.62120	TTC		0.398	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		62	287	0	0	0	1	0	62	287					C	165712439	A	C	165712439	3	2	79	1	0	0	0	0	1	0	0	0	16047	14	1	4	141	4	TMCO1	1	165712439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78153	165712439	83538182	1374	11691											
TMCO1	54499	broad.mit.edu	37	chr1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttgtacttgtctgtcCtgtaaaccaggacccaggtt	9	11	2	0	rs368923697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000392129.6	-	2	245	c.95G>T	c.(94-96)aGg>aTg	p.R32M	TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_De_novo_Start_InFrame	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	32						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTGTCTGTCCTGTAAACCAG	0.373																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(247-249)aGg>aTg		transmembrane and coiled-coil domains 1							160	143	149					1																	165737482		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165737482C>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.95G>T	1.37:g.165737482C>A	ENSP00000375975:p.Arg32Met					TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000392129.6_Missense_Mutation_p.R32M	p.R83M			Q9UM00	TMCO1_HUMAN			2	523	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		32					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.248G>T		.	.	.	.	.	.	.	.	.	.	C	29.4	4.998946	0.93227	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	5.68	0.88126	.	0.045571	0.85682	D	0.000000	D	0.84479	0.5481	M	0.92507	3.315	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87671	0.2541	8	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	20;32	B7Z591;Q9UM00	.;TMCO1_HUMAN	M	32	.	ENSP00000356856:R32M	R	-	2	0	TMCO1	164004106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.314000	0.72848	2.683000	0.91414	0.561000	0.74099	AGG		0.373	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		24	307	1	0	5.45024e-15	1	5.94044e-15	24	307					A	165737482	C	A	165737482	3	1	79	1	0	0	0	0	1	0	0	0	16047	681	24	3	495	3	TMCO1	1	165737482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	165737482	83513139	1375	11692											
FAM78B	149297	broad.mit.edu	37	chr1	166039799	166039799	+	Silent	SNP	G	G	A													cttgtgagcagtggcacattGctgtcactcacaggcactgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	ENST00000338353.3	-	3	1054	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_ENST00000354422.3_Silent_p.S155S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCA	0.522																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)agC>agT		family with sequence similarity 78, member B							226	197	206					1																	166039799		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039799G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.465C>T	1.37:g.166039799G>A						FAM78B_ENST00000354422.3_Silent_p.S155S	p.S155S			Q5VT40	FA78B_HUMAN			3	1054	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		155					B7Z693	Silent	SNP	ENST00000338353.3	37	c.465C>T	CCDS30931.1																																																																																				0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		179	754	0	0	0	1	0	179	754					A	166039799	G	A	166039799	2	1	79	1	0	0	0	0	0	0	0	1	5652	1310	46	2		2	FAM78B	1	166039799	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302317	166039799	83210822	1376	11693	73	2									
FAM78B	149297	broad.mit.edu	37	chr1	166039800	166039800	+	Missense_Mutation	SNP	C	C	T													ttgtgagcagtggcacattgCtgtcactcacaggcactgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	ENST00000338353.3	-	3	1053	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGCACATTGCTGTCACTCAC	0.527																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)aGc>aAc		family with sequence similarity 78, member B							224	195	205					1																	166039800		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039800C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.464G>A	1.37:g.166039800C>T	ENSP00000339681:p.Ser155Asn					FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N	p.S155N			Q5VT40	FA78B_HUMAN			3	1053	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		155					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.464G>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808974	0.31961	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	4.93	0.64822	.	0.115191	0.85682	N	0.000000	T	0.33673	0.0871	L	0.59436	1.845	0.47183	D	0.999346	B	0.12013	0.005	B	0.08055	0.003	T	0.23726	-1.0180	8	0.16896	T	0.51	-15.4965	12.9119	0.58184	0.0:0.9216:0.0:0.0784	.	155	Q5VT40	FA78B_HUMAN	N	155	.	ENSP00000339681:S155N	S	-	2	0	FAM78B	164306424	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.999000	0.57031	1.472000	0.48140	-0.150000	0.13652	AGC		0.527	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		244	683	0	0	0	1	0	244	683					T	166039800	C	T	166039800	3	4	79	1	0	0	0	0	1	0	0	0	5652	797	28	2	325	2	FAM78B	1	166039800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	166039800	83210821	1377	11694	73	2									
FAM78B	149297	broad.mit.edu	37	chr1	166039940	166039940	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaagggtagctcaccccAtctgagtcactgatggcttt	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)gaT>gaC		family with sequence similarity 78, member B							86	83	84					1																	166039940		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039940A>G	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.324T>C	1.37:g.166039940A>G						FAM78B_ENST00000354422.3_Silent_p.D108D	p.D108D			Q5VT40	FA78B_HUMAN			3	913	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		108					B7Z693	Silent	SNP	ENST00000338353.3	37	c.324T>C	CCDS30931.1																																																																																				0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		34	348	0	0	0	1	0	34	348					G	166039940	A	G	166039940	2	3	79	1	0	0	0	0	0	0	0	1	5652	214	8	4		4	FAM78B	1	166039940	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140	166039940	83210681	1378	11695											
POGK	57645	broad.mit.edu	37	chr1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgacctctcggctgatgAcatagctgggaagtttcagt	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000367876.4_Missense_Mutation_p.D185G|POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	185					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(553-555)gAc>gGc		pogo transposable element with KRAB domain							84	74	77					1																	166818370		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818370A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.554A>G	1.37:g.166818370A>G	ENSP00000356849:p.Asp185Gly					POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G	p.D185G			Q9P215	POGK_HUMAN			5	914	+			185					Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.554A>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342365	0.61073	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37752	1.25;1.18;4.21;4.56;4.56	5.39	5.39	0.77823	.	0.128839	0.35040	N	0.003481	T	0.26521	0.0648	N	0.24115	0.695	0.31956	N	0.609032	D;D;D	0.71674	0.998;0.996;0.989	P;P;P	0.60886	0.88;0.762;0.762	T	0.08310	-1.0728	9	0.26408	T	0.33	-35.2945	11.7317	0.51741	1.0:0.0:0.0:0.0	.	67;100;185	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	67;100;185;185;185	ENSP00000442763:D67G;ENSP00000441187:D100G;ENSP00000404402:D185G;ENSP00000356850:D185G;ENSP00000356849:D185G	ENSP00000356849:D185G	D	+	2	0	POGK	165084994	0.903000	0.30736	0.095000	0.20976	0.917000	0.54804	3.892000	0.56235	2.263000	0.75096	0.533000	0.62120	GAC		0.572	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		65	266	0	0	0	1	0	65	266					G	166818370	A	G	166818370	3	3	79	1	0	0	0	0	1	0	0	0	12227	275	10	4	568	4	POGK	1	166818370	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	778430	166818370	82432251	1379	11696											
POGK	57645	broad.mit.edu	37	chr1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggaagttaccaccgtAcatcattttgaggggaacat	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000367876.4_Missense_Mutation_p.Y414C|POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	414	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1240-1242)tAc>tGc		pogo transposable element with KRAB domain							75	68	70					1																	166819057		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166819057A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1241A>G	1.37:g.166819057A>G	ENSP00000356849:p.Tyr414Cys					POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C	p.Y414C			Q9P215	POGK_HUMAN			5	1601	+			414			DDE.		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.1241A>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500626	0.26861	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.5	4.36	0.52297	.	0.000000	0.46145	D	0.000308	T	0.30947	0.0781	L	0.27053	0.805	0.40234	D	0.977881	P;D;D	0.65815	0.461;0.995;0.992	B;D;P	0.68039	0.343;0.955;0.75	T	0.21724	-1.0237	8	.	.	.	-29.3824	8.3146	0.32093	0.6828:0.0:0.0:0.3172	.	296;329;414	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	C	296;329;414;414	ENSP00000442763:Y296C;ENSP00000441187:Y329C;ENSP00000356850:Y414C;ENSP00000356849:Y414C	.	Y	+	2	0	POGK	165085681	0.999000	0.42202	0.879000	0.34478	0.341000	0.28922	2.486000	0.45259	1.079000	0.41038	0.533000	0.62120	TAC		0.512	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		38	230	0	0	0	1	0	38	230					G	166819057	A	G	166819057	3	3	79	1	0	0	0	0	1	0	0	0	12227	391	14	4	1255	4	POGK	1	166819057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	687	166819057	82431564	1380	11697											
TADA1	117143	broad.mit.edu	37	chr1	166839020	166839020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattatcctgtgtgagaagtCtatgagcttcaaggtcaaac	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166839020C>A	ENST00000367874.4	-	2	239	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	49					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGTGAGAAGTCTATGAGCTTC	0.363																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(145-147)aGa>aTa		transcriptional adaptor 1							133	136	135					1																	166839020		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166839020C>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.146G>T	1.37:g.166839020C>A	ENSP00000356848:p.Arg49Ile						p.R49I	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN			2	239	-			49					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.146G>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936183	0.92458	.	.	ENSG00000152382	ENST00000367874	T	0.50813	0.73	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.49126	1.545	0.47737	D	0.999500	D;D	0.76494	0.992;0.999	D;D	0.74348	0.939;0.983	T	0.59380	-0.7465	9	0.72032	D	0.01	-12.1412	17.1185	0.86695	0.0:1.0:0.0:0.0	.	49;49	A8K4J9;Q96BN2	.;TADA1_HUMAN	I	49	ENSP00000356848:R49I	ENSP00000356848:R49I	R	-	2	0	TADA1	165105644	0.992000	0.36948	0.970000	0.41538	0.994000	0.84299	7.013000	0.76373	2.707000	0.92482	0.655000	0.94253	AGA		0.363	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		23	616	1	0	1.32003e-05	1	1.35269e-05	23	616					A	166839020	C	A	166839020	3	1	79	1	0	0	0	0	1	0	0	0	15561	913	32	3	889	3	TADA1	1	166839020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19963	166839020	82411601	1381	11698											
MAEL	84944	broad.mit.edu	37	chr1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatccacaaattctccaaCtgtgacacttcactctcacc	2	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1234-1236)aaC>aaA		maelstrom spermatogenic transposon silencer							148	145	146					1																	166991023		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991023C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1236C>A	1.37:g.166991023C>A	ENSP00000356846:p.Asn412Lys					MAEL_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	p.N412K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			12	1480	+			412					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1236C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208493	0.39003	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.42131	0.98;0.99	5.04	2.98	0.34508	.	0.554792	0.17543	N	0.170450	T	0.09686	0.0238	N	0.14661	0.345	0.25966	N	0.982561	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.12863	-1.0531	10	0.72032	D	0.01	.	4.6626	0.12650	0.2188:0.6689:0.0:0.1123	.	381;412	E9JVC3;Q96JY0	.;MAEL_HUMAN	K	412;381;134	ENSP00000356846:N412K;ENSP00000356844:N381K	ENSP00000356844:N381K	N	+	3	2	MAEL	165257647	0.053000	0.20554	0.952000	0.39060	0.996000	0.88848	0.045000	0.14013	1.306000	0.44926	0.655000	0.94253	AAC		0.393	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		84	474	1	0	5.78178e-49	1	7.14446e-49	84	474					A	166991023	C	A	166991023	3	1	79	1	0	0	0	0	1	0	0	0	9193	564	20	3	1282	3	MAEL	1	166991023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152003	166991023	82259598	1382	11699											
GPA33	10223	broad.mit.edu	37	chr1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggattcacgcccagtgctcCtctgctcttcttgcctgtag	10	14	4	0	rs146470813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	307						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(919-921)aGg>aTg		glycoprotein A33 (transmembrane)							195	135	155					1																	167023611		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167023611C>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.920G>T	1.37:g.167023611C>A	ENSP00000356842:p.Arg307Met					GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.R307M	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			7	1263	-			307					Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.920G>T	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505824	0.44558	.	.	ENSG00000143167	ENST00000367868	T	0.77877	-1.13	3.49	2.44	0.29823	.	0.451921	0.20846	N	0.084608	T	0.63558	0.2521	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.54944	-0.8217	10	0.48119	T	0.1	.	7.9319	0.29907	0.0:0.7445:0.2555:0.0	.	307	Q99795	GPA33_HUMAN	M	307	ENSP00000356842:R307M	ENSP00000356842:R307M	R	-	2	0	GPA33	165290235	0.000000	0.05858	0.013000	0.15412	0.070000	0.16714	-0.038000	0.12144	1.889000	0.54706	0.591000	0.81541	AGG		0.612	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		169	448	1	0	1.41736e-90	1	1.81971e-90	169	448					A	167023611	C	A	167023611	3	1	79	1	0	0	0	0	1	0	0	0	6615	681	24	3	43	3	GPA33	1	167023611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32588	167023611	82227010	1383	11700											
DUSP27	92235	broad.mit.edu	37	chr1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactggcctggagatccagTacctgggtgtagaggtggat	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	186					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GGAGATCCAGTACCTGGGTGT	0.567																																						ENST00000361200.2																			0				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						c.(556-558)Tac>Cac		dual specificity phosphatase 27 (putative)							132	117	122					1																	167088604		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088604T>C	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.556T>C	1.37:g.167088604T>C	ENSP00000354483:p.Tyr186His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H	p.Y186H			Q5VZP5	DUS27_HUMAN			5	722	+			186					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.556T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801391	0.90538	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.63913	-0.07;-0.07;-0.07	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	-24.5316	15.0182	0.71605	0.0:0.0:0.0:1.0	.	186	Q5VZP5	DUS27_HUMAN	H	186	ENSP00000354483:Y186H;ENSP00000271385:Y186H;ENSP00000404874:Y186H	ENSP00000271385:Y186H	Y	+	1	0	DUSP27	165355228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		28	266	0	0	0	1	0	28	266					C	167088604	T	C	167088604	3	2	79	1	0	0	0	0	1	0	0	0	4840	1638	57	4	570	4	DUSP27	1	167088604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64993	167088604	82162017	1384	11701											
DUSP27	92235	broad.mit.edu	37	chr1	167096291	167096291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgctggaggagagccaGtctatggcaagctgggaggc	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	641					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						AGGAGAGCCAGTCTATGGCAA	0.637																																						ENST00000361200.2																			0				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						c.(1921-1923)caG>caA		dual specificity phosphatase 27 (putative)							41	37	38					1																	167096291		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096291G>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.1923G>A	1.37:g.167096291G>A						DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q	p.Q641Q			Q5VZP5	DUS27_HUMAN			6	2089	+			641					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1923G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		28	155	0	0	0	1	0	28	155					A	167096291	G	A	167096291	2	1	79	1	0	0	0	0	0	0	0	1	4840	1020	36	2		2	DUSP27	1	167096291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7687	167096291	82154330	1385	11702											
DUSP27	92235	broad.mit.edu	37	chr1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttcccgcagtaattcccaGaaacctgaaacagacacatg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	905	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GTAATTCCCAGAAACCTGAAA	0.493																																						ENST00000361200.2																			0				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						c.(2713-2715)caG>caT		dual specificity phosphatase 27 (putative)							87	77	80					1																	167097083		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097083G>T	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.2715G>T	1.37:g.167097083G>T	ENSP00000354483:p.Gln905His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H	p.Q905H			Q5VZP5	DUS27_HUMAN			6	2881	+			905			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2715G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589602	0.13812	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.25	-5.41	0.02648	.	1.287870	0.05395	N	0.539668	T	0.00906	0.0030	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.49570	-0.8926	10	0.41790	T	0.15	-6.6321	3.444	0.07474	0.1444:0.1986:0.4558:0.2012	.	905	Q5VZP5	DUS27_HUMAN	H	905	ENSP00000354483:Q905H;ENSP00000271385:Q905H;ENSP00000404874:Q905H	ENSP00000271385:Q905H	Q	+	3	2	DUSP27	165363707	0.001000	0.12720	0.965000	0.40720	0.765000	0.43378	-1.289000	0.02780	-0.532000	0.06332	-0.323000	0.08544	CAG		0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		54	188	1	0	2.76378e-25	1	3.16915e-25	54	188					T	167097083	G	T	167097083	3	4	79	1	0	0	0	0	1	0	0	0	4840	933	33	3	2733	3	DUSP27	1	167097083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	167097083	82153538	1386	11703											
DUSP27	92235	broad.mit.edu	37	chr1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctaccacgaggcaaatGgcaactctgtaagaagcact	8	13	1	1	rs199793061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	998	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						CGAGGCAAATGGCAACTCTGT	0.517																																						ENST00000361200.2																			0				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						c.(2992-2994)Ggc>Agc		dual specificity phosphatase 27 (putative)							84	79	81					1																	167097360		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097360G>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.2992G>A	1.37:g.167097360G>A	ENSP00000354483:p.Gly998Ser					DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S	p.G998S			Q5VZP5	DUS27_HUMAN			6	3158	+			998			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2992G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838723	0.16891	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.42	4.51	0.55191	.	0.123145	0.37136	N	0.002232	T	0.02012	0.0063	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.35251	-0.9796	10	0.51188	T	0.08	-31.6984	10.3833	0.44125	0.1494:0.0:0.8506:0.0	.	998	Q5VZP5	DUS27_HUMAN	S	998	ENSP00000354483:G998S;ENSP00000271385:G998S;ENSP00000404874:G998S	ENSP00000271385:G998S	G	+	1	0	DUSP27	165363984	0.996000	0.38824	0.089000	0.20774	0.416000	0.31233	3.441000	0.52893	1.284000	0.44531	0.643000	0.83706	GGC		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		60	379	0	0	0	1	0	60	379					A	167097360	G	A	167097360	3	1	79	1	0	0	0	0	1	0	0	0	4840	1348	47	2	3010	2	DUSP27	1	167097360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	167097360	82153261	1387	11704											
DUSP27	92235	broad.mit.edu	37	chr1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacagagaagaagggaGgtttgcatctggacggcggt	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1111					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						GAAGAAGGGAGGTTTGCATCT	0.512																																						ENST00000361200.2																			0				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						c.(3331-3333)aGg>aTg		dual specificity phosphatase 27 (putative)							46	42	43					1																	167097700		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097700G>T	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.3332G>T	1.37:g.167097700G>T	ENSP00000354483:p.Arg1111Met					DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M	p.R1111M			Q5VZP5	DUS27_HUMAN			6	3498	+			1111					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3332G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207181	0.58343	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.4	4.48	0.54585	.	0.000000	0.56097	D	0.000027	T	0.08537	0.0212	M	0.65975	2.015	0.35471	D	0.7973	D	0.76494	0.999	P	0.61328	0.887	T	0.01018	-1.1479	10	0.87932	D	0	-38.0246	14.5027	0.67732	0.0719:0.0:0.9281:0.0	.	1111	Q5VZP5	DUS27_HUMAN	M	1111	ENSP00000354483:R1111M;ENSP00000271385:R1111M;ENSP00000404874:R1111M	ENSP00000271385:R1111M	R	+	2	0	DUSP27	165364324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.698000	0.37794	2.532000	0.85374	0.549000	0.68633	AGG		0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		26	178	1	0	7.92952e-12	1	8.47903e-12	26	178					T	167097700	G	T	167097700	3	4	79	1	0	0	0	0	1	0	0	0	4840	1000	35	3	3350	3	DUSP27	1	167097700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	167097700	82152921	1388	11705											
DUSP27	92235	broad.mit.edu	37	chr1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggcggtcccagtatcGgagaagcactgacagggagg	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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						TCCCAGTATCGGAGAAGCACT	0.512																																						ENST00000361200.2																			0				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						c.(3361-3363)cGg>cAg		dual specificity phosphatase 27 (putative)							45	41	42					1																	167097730		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097730G>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.3362G>A	1.37:g.167097730G>A	ENSP00000354483:p.Arg1121Gln					DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q	p.R1121Q			Q5VZP5	DUS27_HUMAN			6	3528	+			1121					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3362G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522319	0.27211	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04551	3.6;3.6;3.6	5.4	4.42	0.53409	.	0.339926	0.22015	N	0.065807	T	0.02970	0.0088	M	0.65975	2.015	0.31764	N	0.632927	D	0.53462	0.96	B	0.39876	0.312	T	0.25779	-1.0122	10	0.87932	D	0	-10.1831	10.9711	0.47441	0.1692:0.0:0.8308:0.0	.	1121	Q5VZP5	DUS27_HUMAN	Q	1121	ENSP00000354483:R1121Q;ENSP00000271385:R1121Q;ENSP00000404874:R1121Q	ENSP00000271385:R1121Q	R	+	2	0	DUSP27	165364354	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.046000	0.57376	1.133000	0.42147	0.549000	0.68633	CGG		0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		31	188	0	0	0	1	0	31	188					A	167097730	G	A	167097730	3	1	79	1	0	0	0	0	1	0	0	0	4840	1116	39	1	3380	1	DUSP27	1	167097730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	167097730	82152891	1389	11706											
POU2F1	5451	broad.mit.edu	37	chr1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctccccttctgcctcaGcctccacctccgaggcatcc	6	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000541643.3	+	15	1756	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	POU2F1_ENST00000367862.5_Missense_Mutation_p.A544T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	532					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1630-1632)Gcc>Acc		POU class 2 homeobox 1							92	75	81					1																	167381303		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167381303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1594G>A	1.37:g.167381303G>A	ENSP00000441285:p.Ala532Thr					POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T	p.A544T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			14	1865	+			532					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1630G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.12;0.12;0.12;0.12;0.12	5.5	4.59	0.56863	.	1.244020	0.05323	N	0.527015	T	0.70422	0.3222	N	0.19112	0.55	0.34924	D	0.748716	B;B;B;B;B	0.21753	0.036;0.035;0.06;0.06;0.036	B;B;B;B;B	0.20184	0.008;0.013;0.019;0.028;0.008	T	0.46048	-0.9219	9	0.34782	T	0.22	.	14.5992	0.68427	0.0703:0.0:0.9297:0.0	.	492;532;544;530;532	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	555;492;530;532;532;544;440	ENSP00000356840:A555T;ENSP00000401217:A492T;ENSP00000356839:A530T;ENSP00000414660:A532T;ENSP00000441285:A532T;ENSP00000356836:A544T;ENSP00000415993:A440T	ENSP00000356836:A544T	A	+	1	0	POU2F1	165647927	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.738000	0.55067	1.453000	0.47775	0.650000	0.86243	GCC		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		49	266	0	0	0	1	0	49	266					A	167381303	G	A	167381303	3	1	79	1	0	0	0	0	1	0	0	0	12313	971	34	2	1644	2	POU2F1	1	167381303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283573	167381303	81869318	1390	11707											
CREG1	8804	broad.mit.edu	37	chr1	167517320	167517320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtttcttgcagaagttggtCtgtgccaaagtcatggtcag	12	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167517320C>T	ENST00000370509.4	-	2	418	c.393G>A	c.(391-393)caG>caA	p.Q131Q	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	131					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										AGAAGTTGGTCTGTGCCAAAG	0.398																																						ENST00000370509.4																			0											c.(391-393)caG>caA		cellular repressor of E1A-stimulated genes 1							156	142	146					1																	167517320		2203	4300	6503	SO:0001819	synonymous_variant	8804				cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity	g.chr1:167517320C>T	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"cellular repressor of E1A-stimulated genes"	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.393G>A	1.37:g.167517320C>T							p.Q131Q	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN			2	418	-			131					B2RDD4|Q8N9A3	Silent	SNP	ENST00000370509.4	37	c.393G>A	CCDS1262.1																																																																																				0.398	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	NM_003851		8	451	0	0	0	1	0	8	451					T	167517320	C	T	167517320	2	4	79	1	0	0	0	0	0	0	0	1	3873	912	32	2		2	CREG1	1	167517320	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136017	167517320	81733301	1391	11708											
RCSD1	92241	broad.mit.edu	37	chr1	167663376	167663376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctctactgcctggggCctcacccaagagtcctggac	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167663376C>T	ENST00000367854.3	+	5	642	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	104					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGCCTGGGGCCTCACCCAAG	0.532																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(310-312)gCc>gTc		RCSD domain containing 1							78	74	75					1																	167663376		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663376C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.311C>T	1.37:g.167663376C>T	ENSP00000356828:p.Ala104Val					RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	p.A104V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			5	642	+	all_hematologic(923;0.215)		104					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.311C>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856784	0.71834	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.59224	0.34;0.28	5.18	5.18	0.71444	.	0.292176	0.32175	N	0.006477	T	0.59609	0.2206	L	0.55103	1.725	0.31994	N	0.6041909999999999	D;D	0.89917	0.959;1.0	P;D	0.83275	0.631;0.996	T	0.60850	-0.7181	9	0.33940	T	0.23	-20.1062	9.9718	0.41759	0.0:0.7871:0.1383:0.0745	.	74;104	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	104;80;74	ENSP00000356828:A104V;ENSP00000439409:A74V	ENSP00000355291:A80V	A	+	2	0	RCSD1	165930000	0.989000	0.36119	0.996000	0.52242	0.771000	0.43674	1.979000	0.40608	2.572000	0.86782	0.655000	0.94253	GCC		0.532	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		10	407	0	0	0	1	0	10	407					T	167663376	C	T	167663376	3	4	79	1	0	0	0	0	1	0	0	0	13235	739	26	2	329	2	RCSD1	1	167663376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146056	167663376	81587245	1392	11709											
ADCY10	55811	broad.mit.edu	37	chr1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgaatgtttaccctgcCtgctacaattttttcccatg	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367851.4	-	33	4943	c.4759G>T	c.(4759-4761)Ggc>Tgc	p.G1587C	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1495C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1587					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACCCTGCCTGCTACAATT	0.373																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4483-4485)Ggc>Tgc		adenylate cyclase 10 (soluble)							142	134	136					1																	167778989		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167778989C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4759G>T	1.37:g.167778989C>A	ENSP00000356825:p.Gly1587Cys					ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1587C|ADCY10_ENST00000485964.1_5'UTR	p.G1495C			Q96PN6	ADCYA_HUMAN			33	4980	-			1587					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4483G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251182	0.59212	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35048	1.33;1.33;1.33	5.54	2.62	0.31277	.	0.354480	0.24542	N	0.037632	T	0.36853	0.0982	M	0.63428	1.95	0.36856	D	0.888131	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.36311	-0.9753	9	0.87932	D	0	-7.3277	8.1789	0.31298	0.0:0.7399:0.0:0.2601	.	1495;1587	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1434;1587;1495	ENSP00000441992:G1434C;ENSP00000356825:G1587C;ENSP00000356822:G1495C	ENSP00000356822:G1495C	G	-	1	0	ADCY10	166045613	0.036000	0.19791	0.018000	0.16275	0.173000	0.22820	1.456000	0.35201	0.702000	0.31825	0.655000	0.94253	GGC		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		22	496	1	0	2.89027e-11	1	3.08062e-11	22	496					A	167778989	C	A	167778989	3	1	79	1	0	0	0	0	1	0	0	0	293	681	24	3	77	3	ADCY10	1	167778989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115613	167778989	81471632	1393	11710											
ADCY10	55811	broad.mit.edu	37	chr1	167793916	167793916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggccaaatccaggtgtcCcattatgagcttgttgaaga	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793916C>T	ENST00000367851.4	-	27	4112	c.3928G>A	c.(3928-3930)Gga>Aga	p.G1310R	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1218R|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAGGTGTCCCATTATGAGC	0.498																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3652-3654)Gga>Aga		adenylate cyclase 10 (soluble)							202	179	187					1																	167793916		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793916C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3928G>A	1.37:g.167793916C>T	ENSP00000356825:p.Gly1310Arg					ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1310R|ADCY10_ENST00000485964.1_5'UTR	p.G1218R			Q96PN6	ADCYA_HUMAN			27	4149	-			1310					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3652G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035291	0.75617	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.80824	-1.42;-1.42;-1.42	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000037	D	0.87180	0.6113	M	0.72894	2.215	0.34910	D	0.747412	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88288	0.2941	9	0.87932	D	0	-16.6889	15.4404	0.75178	0.0:1.0:0.0:0.0	.	1218;1310	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	R	1157;211;1310;1218	ENSP00000441992:G1157R;ENSP00000356825:G1310R;ENSP00000356822:G1218R	ENSP00000271426:G211R	G	-	1	0	ADCY10	166060540	1.000000	0.71417	0.983000	0.44433	0.556000	0.35491	3.814000	0.55643	2.712000	0.92718	0.650000	0.86243	GGA		0.498	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		184	767	0	0	0	1	0	184	767					T	167793916	C	T	167793916	3	4	79	1	0	0	0	0	1	0	0	0	293	632	22	2	932	2	ADCY10	1	167793916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14927	167793916	81456705	1394	11711											
ADCY10	55811	broad.mit.edu	37	chr1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggggaggttgaagAtgtgctccatggccatgact	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367851.4	-	27	4029	c.3845T>A	c.(3844-3846)aTc>aAc	p.I1282N	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1190N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1282					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3568-3570)aTc>aAc		adenylate cyclase 10 (soluble)							205	196	199					1																	167793999		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793999A>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3845T>A	1.37:g.167793999A>T	ENSP00000356825:p.Ile1282Asn					ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N|ADCY10_ENST00000367851.4_Missense_Mutation_p.I1282N|ADCY10_ENST00000485964.1_5'UTR	p.I1190N			Q96PN6	ADCYA_HUMAN			27	4066	-			1282					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3569T>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812902	0.32053	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.31769	1.48;1.48;1.48	5.75	3.48	0.39840	.	0.620825	0.15231	N	0.273386	T	0.13670	0.0331	L	0.47716	1.5	0.28843	N	0.896489	P;P	0.48503	0.911;0.855	B;B	0.42422	0.387;0.216	T	0.07177	-1.0786	9	0.66056	D	0.02	-10.1174	6.5536	0.22448	0.8182:0.0:0.1818:0.0	.	1190;1282	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1129;183;1282;1190	ENSP00000441992:I1129N;ENSP00000356825:I1282N;ENSP00000356822:I1190N	ENSP00000271426:I183N	I	-	2	0	ADCY10	166060623	0.016000	0.18221	0.052000	0.19188	0.540000	0.34992	1.456000	0.35201	1.021000	0.39600	0.533000	0.62120	ATC		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		159	772	0	0	0	1	0	159	772					T	167793999	A	T	167793999	3	4	79	1	0	0	0	0	1	0	0	0	293	333	12	5	1015	5	ADCY10	1	167793999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83	167793999	81456622	1395	11712											
ADCY10	55811	broad.mit.edu	37	chr1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaagttgtaaggaaagattCggttgaggagcttcagtgcc	13	5	1	2	rs143185037	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367851.4	-	25	3672	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.R1071Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3211-3213)cGa>cAa		adenylate cyclase 10 (soluble)							275	281	279					1																	167802330		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802330C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3488G>A	1.37:g.167802330C>T	ENSP00000356825:p.Arg1163Gln					ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.R1163Q|ADCY10_ENST00000485964.1_5'UTR	p.R1071Q			Q96PN6	ADCYA_HUMAN			25	3709	-			1163					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3212G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191030	0.58017	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32988	1.43;1.44;1.44	5.48	2.62	0.31277	.	0.571110	0.15709	N	0.248496	T	0.12646	0.0307	M	0.74258	2.255	0.24101	N	0.995879	P;B	0.36249	0.545;0.41	B;B	0.22386	0.039;0.017	T	0.03898	-1.0994	9	0.44086	T	0.13	-1.6966	8.0859	0.30771	0.0:0.7467:0.0:0.2533	.	1071;1163	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1010;64;1163;1071	ENSP00000441992:R1010Q;ENSP00000356825:R1163Q;ENSP00000356822:R1071Q	ENSP00000271426:R64Q	R	-	2	0	ADCY10	166068954	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	0.296000	0.19083	0.393000	0.25203	-0.131000	0.14894	CGA		0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		406	1173	0	0	0	1	0	406	1173					T	167802330	C	T	167802330	3	4	79	1	0	0	0	0	1	0	0	0	293	884	31	1	1380	1	ADCY10	1	167802330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8331	167802330	81448291	1396	11713											
ADCY10	55811	broad.mit.edu	37	chr1	167847775	167847775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctctttaaaaaagtacgCtggtaggttgctcccattgt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167847775C>A	ENST00000367851.4	-	12	1499	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	ADCY10_ENST00000367848.1_Missense_Mutation_p.A347S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	439					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAAAGTACGCTGGTAGGTTG	0.443																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1039-1041)Gcg>Tcg		adenylate cyclase 10 (soluble)							98	94	96					1																	167847775		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167847775C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1315G>T	1.37:g.167847775C>A	ENSP00000356825:p.Ala439Ser					ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S|ADCY10_ENST00000367851.4_Missense_Mutation_p.A439S	p.A347S			Q96PN6	ADCYA_HUMAN			12	1536	-			439			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1039G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319191	0.23994	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30714	1.52;1.55;1.52	5.38	-4.36	0.03645	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.664905	0.14561	N	0.312051	T	0.02688	0.0081	N	0.11201	0.11	0.29437	N	0.8594269999999999	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.17979	0.02;0.006;0.003	T	0.39231	-0.9624	9	0.15066	T	0.55	-5.9662	0.2013	0.00145	0.2958:0.2374:0.2293:0.2376	.	286;347;439	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	286;439;347	ENSP00000441992:A286S;ENSP00000356825:A439S;ENSP00000356822:A347S	ENSP00000356822:A347S	A	-	1	0	ADCY10	166114399	0.325000	0.24660	0.978000	0.43139	0.881000	0.50899	-0.347000	0.07750	-0.424000	0.07382	-0.824000	0.03097	GCG		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		11	423	1	0	3.86212e-05	1	3.93988e-05	11	423					A	167847775	C	A	167847775	3	1	79	1	0	0	0	0	1	0	0	0	293	797	28	3	3605	3	ADCY10	1	167847775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45445	167847775	81402846	1397	11714											
ADCY10	55811	broad.mit.edu	37	chr1	167863127	167863127	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcacatacttttgtagGgacatctccagttcaggatc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367851.4	-	8	976	c.792C>A	c.(790-792)tcC>tcA	p.S264S	ADCY10_ENST00000367848.1_Silent_p.S172S|ADCY10_ENST00000545172.1_Silent_p.S111S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	264					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(514-516)tcC>tcA		adenylate cyclase 10 (soluble)							78	69	72					1																	167863127		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167863127G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.792C>A	1.37:g.167863127G>T						ADCY10_ENST00000545172.1_Silent_p.S111S|ADCY10_ENST00000367851.4_Silent_p.S264S	p.S172S			Q96PN6	ADCYA_HUMAN			8	1013	-			264			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.516C>A	CCDS1265.1																																																																																				0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		33	142	1	0	7.11191e-15	1	7.74586e-15	33	142					T	167863127	G	T	167863127	2	4	79	1	0	0	0	0	0	0	0	1	293	1219	43	3		3	ADCY10	1	167863127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15352	167863127	81387494	1398	11715											
ADCY10	55811	broad.mit.edu	37	chr1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcaacaaacatcaggactCcgtcaaaataatccataaag	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	41					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(121-123)gGa>gAa		adenylate cyclase 10 (soluble)							113	108	109					1																	167874257		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874257C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.122G>A	1.37:g.167874257C>T	ENSP00000356825:p.Gly41Glu					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E	p.G41E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	306	-			41					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.122G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471987	0.84533	.	.	ENSG00000143199	ENST00000367851	T	0.39406	1.08	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000010	T	0.57021	0.2025	M	0.73962	2.25	0.34549	D	0.711135	D	0.89917	1.0	D	0.97110	1.0	T	0.58797	-0.7573	9	0.46703	T	0.11	-18.9717	15.0548	0.71904	0.0:1.0:0.0:0.0	.	41	Q96PN6	ADCYA_HUMAN	E	41	ENSP00000356825:G41E	ENSP00000356825:G41E	G	-	2	0	ADCY10	166140881	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	4.168000	0.58216	2.606000	0.88127	0.650000	0.86243	GGA		0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		93	319	0	0	0	1	0	93	319					T	167874257	C	T	167874257	3	4	79	1	0	0	0	0	1	0	0	0	293	855	30	2	4838	2	ADCY10	1	167874257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	167874257	81376364	1399	11716											
ADCY10	55811	broad.mit.edu	37	chr1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttcttttggagtgTtcatgttcaagacaaatgtt	9	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	2					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4-6)aAc>aCc		adenylate cyclase 10 (soluble)							159	153	155					1																	167874374		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874374T>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.5A>C	1.37:g.167874374T>G	ENSP00000356825:p.Asn2Thr					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T	p.N2T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	189	-			2					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.5A>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788041	0.31593	.	.	ENSG00000143199	ENST00000367851	T	0.31769	1.48	5.05	-7.17	0.01511	.	0.665201	0.14367	N	0.324022	T	0.10637	0.0260	L	0.51422	1.61	0.23524	N	0.997491	B	0.31680	0.335	B	0.22386	0.039	T	0.00448	-1.1733	9	0.59425	D	0.04	-2.7767	16.0264	0.80548	0.0:0.7894:0.0:0.2106	.	2	Q96PN6	ADCYA_HUMAN	T	2	ENSP00000356825:N2T	ENSP00000356825:N2T	N	-	2	0	ADCY10	166140998	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.813000	0.01725	-1.422000	0.02004	-0.408000	0.06270	AAC		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		118	411	0	0	0	1	0	118	411					G	167874374	T	G	167874374	3	3	79	1	0	0	0	0	1	0	0	0	293	1725	60	4	4955	4	ADCY10	1	167874374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	167874374	81376247	1400	11717											
DCAF6	55827	broad.mit.edu	37	chr1	167944232	167944232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgccaatttacgtgTcattatggaactacttatga	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000312263.6	+	4	621	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Silent_p.C139C|DCAF6_ENST00000367843.3_Silent_p.C139C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTTACGTGTCATTATGGAA	0.313																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(415-417)tgT>tgC		DDB1 and CUL4 associated factor 6							111	105	107					1																	167944232		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944232T>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.417T>C	1.37:g.167944232T>C						DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000312263.6_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C	p.C139C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			4	511	+			139					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.417T>C	CCDS30933.1																																																																																				0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		40	406	0	0	0	1	0	40	406					C	167944232	T	C	167944232	2	2	79	1	0	0	0	0	0	0	0	1	4285	1673	58	4		4	DCAF6	1	167944232	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69858	167944232	81306389	1401	11718											
TIPRL	261726	broad.mit.edu	37	chr1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcaatgctacagatgCgttaagatgtgtaaacaact	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	72					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413																																						ENST00000367833.2																			1	Substitution - Missense(1)	p.A72V(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6						c.(214-216)gCg>gTg		TIP41, TOR signaling pathway regulator-like (S. cerevisiae)							129	117	121					1																	168153250		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168153250C>T	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.215C>T	1.37:g.168153250C>T	ENSP00000356807:p.Ala72Val					TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN			2	360	+	all_hematologic(923;0.215)		72					B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.215C>T	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	TIPRL	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG		0.413	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		72	325	0	0	0	1	0	72	325					T	168153250	C	T	168153250	3	4	79	1	0	0	0	0	1	0	0	0	15978	768	27	1	221	1	TIPRL	1	168153250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209018	168153250	81097371	1402	11719											
SFT2D2	375035	broad.mit.edu	37	chr1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatttttccagtggcataAcaagggacttgcacttatct	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(361-363)aAc>aGc		SFT2 domain containing 2							241	237	238					1																	168205957		2203	4300	6503	SO:0001583	missense	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168205957A>G	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.362A>G	1.37:g.168205957A>G	ENSP00000271375:p.Asn121Ser					SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	p.N121S	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			6	434	+	all_hematologic(923;0.215)		121						Missense_Mutation	SNP	ENST00000271375.4	37	c.362A>G	CCDS1271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.30|16.30	3.083832|3.083832	0.55861|0.55861	.|.	.|.	ENSG00000213064|ENSG00000213064	ENST00000271375|ENST00000367829;ENST00000367825	T|.	0.35789|.	1.29|.	5.18|5.18	4.04|4.04	0.47022|0.47022	.|.	0.168207|.	0.49916|.	U|.	0.000130|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.16166|0.16166	0.38|0.38	0.09310|.	N|.	0.999993|.	B|.	0.13594|.	0.008|.	B|.	0.18871|.	0.023|.	T|T	0.08638|0.08638	-1.0712|-1.0712	9|5	0.02654|0.56958	T|D	1|0.05	-8.6714|-8.6714	9.2735|9.2735	0.37686|0.37686	0.8392:0.0:0.0:0.1608|0.8392:0.0:0.0:0.1608	.|.	121|.	O95562|.	SFT2B_HUMAN|.	S|A	121|94	ENSP00000271375:N121S|.	ENSP00000271375:N121S|ENSP00000356799:T94A	N|T	+|+	2|1	0|0	SFT2D2|SFT2D2	166472581|166472581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.508000|5.508000	0.67006|0.67006	0.790000|0.790000	0.33803|0.33803	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.368	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		95	1187	0	0	0	1	0	95	1187					G	168205957	A	G	168205957	3	3	79	1	0	0	0	0	1	0	0	0	14236	43	2	4	384	4	SFT2D2	1	168205957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52707	168205957	81044664	1403	11720											
SFT2D2	375035	broad.mit.edu	37	chr1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaagaagtgttttGccgtgtgtcttgcataattc	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(466-468)Gcc>Acc		SFT2 domain containing 2							361	301	321					1																	168211761		2203	4300	6503	SO:0001583	missense	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168211761G>A	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.466G>A	1.37:g.168211761G>A	ENSP00000271375:p.Ala156Thr					SFT2D2_ENST00000367825.3_3'UTR	p.A156T	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			8	538	+	all_hematologic(923;0.215)		156						Missense_Mutation	SNP	ENST00000271375.4	37	c.466G>A	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093188	0.20471	.	.	ENSG00000213064	ENST00000271375	T	0.42131	0.98	4.97	-3.81	0.04294	.	0.154571	0.43747	U	0.000539	T	0.03477	0.0100	N	0.01297	-0.9	0.29400	N	0.8620140000000001	B	0.02656	0.0	B	0.09377	0.004	T	0.36529	-0.9744	9	0.19590	T	0.45	-18.5149	7.1524	0.25618	0.6044:0.0:0.2632:0.1324	.	156	O95562	SFT2B_HUMAN	T	156	ENSP00000271375:A156T	ENSP00000271375:A156T	A	+	1	0	SFT2D2	166478385	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	-0.525000	0.06214	-0.719000	0.04942	0.650000	0.86243	GCC		0.458	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		147	740	0	0	0	1	0	147	740					A	168211761	G	A	168211761	3	1	79	1	0	0	0	0	1	0	0	0	14236	1319	46	2	496	2	SFT2D2	1	168211761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5804	168211761	81038860	1404	11721											
TBX19	9095	broad.mit.edu	37	chr1	168260462	168260462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgccatgtactccctcCtgctggactttgtccctacg	7	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	90					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTACTCCCTCCTGCTGGACTT	0.552																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(268-270)Ctg>Ttg		T-box 19							134	120	125					1																	168260462		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260462C>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.268C>T	1.37:g.168260462C>T							p.L90L	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			2	319	+	all_hematologic(923;0.215)		90					Q52M53	Silent	SNP	ENST00000367821.3	37	c.268C>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029415	0.19512	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.53041	-0.8494	3	.	.	.	.	13.3921	0.60830	0.0:0.9236:0.0:0.0764	.	.	.	.	L	22	.	.	P	+	2	0	TBX19	166527086	0.989000	0.36119	0.991000	0.47740	0.999000	0.98932	1.767000	0.38501	1.341000	0.45600	0.655000	0.94253	CCT		0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		235	718	0	0	0	1	0	235	718					T	168260462	C	T	168260462	2	4	79	1	0	0	0	0	0	0	0	1	15706	680	24	2		2	TBX19	1	168260462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48701	168260462	80990159	1405	11722											
SLC19A2	10560	broad.mit.edu	37	chr1	169446393	169446393	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttaaggctgagcttacCggttcctccacgggaggctc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807G>A	c.(805-807)ccG>ccA	p.P269P	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	269					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTGAGCTTACCGGTTCCTCCA	0.468																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.e2+1		solute carrier family 19 (thiamine transporter), member 2							86	92	90					1																	169446393		2202	4300	6502	SO:0001630	splice_region_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169446393C>T	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.807+1G>A	1.37:g.169446393C>T						SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	p.P269_splice	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			2	1043	-	all_hematologic(923;0.208)		269					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Splice_Site	SNP	ENST00000236137.5	37	c.807_splice	CCDS1280.1																																																																																				0.468	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	Silent	23	712	0	0	0	1	0	23	712					T	169446393	C	T	169446393	5	4	79	1	0	0	0	0	0	0	1	0	14479	666	23	1	706	1	SLC19A2	1	169446393	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185931	169446393	79804228	1406	11723											
F5	2153	broad.mit.edu	37	chr1	169511289	169511289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctactctttcctccatcCtgtcttacttgtagagattt	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367797.3	-	13	3240	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	F5_ENST00000367796.3_Silent_p.Q1018Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1013	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3052-3054)caG>caA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						168	179	175					1																	169511289		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511289C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3039G>A	1.37:g.169511289C>T						F5_ENST00000367797.3_Silent_p.Q1013Q	p.Q1018Q			P12259	FA5_HUMAN			13	3255	-	all_hematologic(923;0.208)		1013			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3054G>A	CCDS1281.1																																																																																				0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		324	1040	0	0	0	1	0	324	1040					T	169511289	C	T	169511289	2	4	79	1	0	0	0	0	0	0	0	1	5366	680	24	2		2	F5	1	169511289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64896	169511289	79739332	1407	11724											
F5	2153	broad.mit.edu	37	chr1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatagtcccaaatgactTcctctgcagcaatgaagtat	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367797.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000546081.1_Missense_Mutation_p.E221A|F5_ENST00000367796.3_Missense_Mutation_p.E358A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	358	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1072-1074)gAa>gCa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						221	200	207					1																	169524465		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524465T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1073A>C	1.37:g.169524465T>G	ENSP00000356771:p.Glu358Ala					F5_ENST00000546081.1_Missense_Mutation_p.E221A|F5_ENST00000367797.3_Missense_Mutation_p.E358A	p.E358A			P12259	FA5_HUMAN			7	1274	-	all_hematologic(923;0.208)		358			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1073A>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752544	0.89753	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99186	-5.53;-5.53;-5.53	5.6	5.6	0.85130	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.91459	3.21	0.41728	D	0.989546	D	0.89917	1.0	D	0.74674	0.984	D	0.98686	1.0694	9	0.87932	D	0	-24.1444	15.8288	0.78736	0.0:0.0:0.0:1.0	.	358	P12259	FA5_HUMAN	A	358;358;221	ENSP00000356771:E358A;ENSP00000356770:E358A;ENSP00000439664:E221A	ENSP00000356770:E358A	E	-	2	0	F5	167791089	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.238000	0.78173	2.144000	0.66660	0.524000	0.50904	GAA		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		119	558	0	0	0	1	0	119	558					G	169524465	T	G	169524465	3	3	79	1	0	0	0	0	1	0	0	0	5366	1783	62	4	5677	4	F5	1	169524465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13176	169524465	79726156	1408	11725											
F5	2153	broad.mit.edu	37	chr1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattttcttaagattcctgGttttctttgggcagttttta	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367797.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000546081.1_Missense_Mutation_p.T196N|F5_ENST00000367796.3_Missense_Mutation_p.T333N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(997-999)aCc>aAc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						105	99	101					1																	169524540		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524540G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.998C>A	1.37:g.169524540G>T	ENSP00000356771:p.Thr333Asn					F5_ENST00000546081.1_Missense_Mutation_p.T196N|F5_ENST00000367797.3_Missense_Mutation_p.T333N	p.T333N			P12259	FA5_HUMAN			7	1199	-	all_hematologic(923;0.208)		333					A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.998C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295812	0.40594	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98849	-5.18;-5.18;-5.18	5.69	5.69	0.88448	Cupredoxin (1);	0.496516	0.23023	N	0.052831	D	0.97309	0.9120	L	0.28274	0.84	0.30198	N	0.798902	D	0.89917	1.0	D	0.69307	0.963	D	0.96481	0.9356	9	0.36615	T	0.2	-20.7416	10.324	0.43783	0.1456:0.0:0.8544:0.0	.	333	P12259	FA5_HUMAN	N	333;333;196	ENSP00000356771:T333N;ENSP00000356770:T333N;ENSP00000439664:T196N	ENSP00000356770:T333N	T	-	2	0	F5	167791164	0.993000	0.37304	0.969000	0.41365	0.836000	0.47400	2.382000	0.44345	2.701000	0.92244	0.644000	0.83932	ACC		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		106	278	1	0	6.20224e-59	1	7.78356e-59	106	278					T	169524540	G	T	169524540	3	4	79	1	0	0	0	0	1	0	0	0	5366	1261	44	3	5752	3	F5	1	169524540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	169524540	79726081	1409	11726											
SELP	6403	broad.mit.edu	37	chr1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaaccttcagcacagcGgaagctacagttggtgtcat	10	10	2	1	rs199507095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGCACAGCGGAAGCTACAG	0.517																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133	111	119					1																	169578832		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578832G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1243C>T	1.37:g.169578832G>A	ENSP00000263686:p.Arg415Cys					SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron	p.R415C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1280	-	all_hematologic(923;0.208)		415			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1243C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.517	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		46	245	0	0	0	1	0	46	245					A	169578832	G	A	169578832	3	1	79	1	0	0	0	0	1	0	0	0	14069	1116	39	1	1285	1	SELP	1	169578832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54292	169578832	79671789	1410	11727											
SELP	6403	broad.mit.edu	37	chr1	169588378	169588378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtttaccagagatcaggGcactgaagcaaaggagttgg	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	ENST00000263686.6	-	2	120	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	28					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AGAGATCAGGGCACTGAAGCA	0.418																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(82-84)gCc>gTc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						91	88	89					1																	169588378		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169588378G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.83C>T	1.37:g.169588378G>A	ENSP00000263686:p.Ala28Val					SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V	p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			2	120	-	all_hematologic(923;0.208)		28					Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.83C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664991	0.14710	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.25912	2.27;2.09;1.81;1.77;1.98;2.09;1.81	4.73	-1.6	0.08426	.	0.585628	0.15169	N	0.276744	T	0.05364	0.0142	L	0.37561	1.115	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.43861	-0.9365	10	0.17369	T	0.5	-2.8872	8.7545	0.34637	0.486:0.0:0.514:0.0	.	28;28	Q6NUL9;P16109	.;LYAM3_HUMAN	V	28;28;27;28;28;28;28;28;28;28;28;28;13	ENSP00000263686:A28V;ENSP00000356767:A28V;ENSP00000356768:A28V;ENSP00000356766:A28V;ENSP00000356765:A28V;ENSP00000356762:A28V;ENSP00000356760:A28V	ENSP00000263686:A28V	A	-	2	0	SELP	167855002	0.000000	0.05858	0.005000	0.12908	0.896000	0.52359	-1.463000	0.02361	-0.404000	0.07610	0.561000	0.74099	GCC		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		25	165	0	0	0	1	0	25	165					A	169588378	G	A	169588378	3	1	79	1	0	0	0	0	1	0	0	0	14069	1203	42	2	2469	2	SELP	1	169588378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9546	169588378	79662243	1411	11728											
SELE	6401	broad.mit.edu	37	chr1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A													ataagaatgcaacttacctgGcaggaacaaatttctttgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.A466V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	591					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACTTACCTGGCAGGAACAAA	0.328																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1771-1773)gCc>gTc		selectin E							74	72	73					1																	169695051		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169695051G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1772C>T	1.37:g.169695051G>A	ENSP00000331736:p.Ala591Val					SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V	p.A591V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			12	1911	-	all_hematologic(923;0.208)		591					A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1772C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226299	0.39300	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21734	2.06;1.99;2.23;2.01;2.07;1.99;2.23;2.06;2.01	4.9	3.96	0.45880	.	0.482787	0.15520	N	0.258107	T	0.08714	0.0216	M	0.68952	2.095	0.22684	N	0.998856	P	0.45126	0.851	B	0.33339	0.162	T	0.08229	-1.0732	10	0.41790	T	0.15	.	10.6767	0.45789	0.0:0.0:0.8087:0.1913	.	591	P16581	LYAM2_HUMAN	V	528;528;466;465;591;528;466;528;465	ENSP00000356755:A528V;ENSP00000356756:A528V;ENSP00000356754:A466V;ENSP00000356753:A465V;ENSP00000331736:A591V;ENSP00000356751:A528V;ENSP00000356749:A466V;ENSP00000356750:A528V;ENSP00000356748:A465V	ENSP00000331736:A591V	A	-	2	0	SELE	167961675	0.947000	0.32204	0.880000	0.34516	0.545000	0.35147	2.955000	0.49121	1.152000	0.42452	0.650000	0.86243	GCC		0.328	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		42	264	0	0	0	1	0	42	264					A	169695051	G	A	169695051	3	1	79	1	0	0	0	0	1	0	0	0	14063	1203	42	2	68	2	SELE	1	169695051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106673	169695051	79555570	1412	11729	74	2									
SELE	6401	broad.mit.edu	37	chr1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C													caacttacctggcaggaacaAatttctttgctgcaaaagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.F463C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	588					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGCAGGAACAAATTTCTTTGC	0.323																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1762-1764)tTt>tGt		selectin E							70	70	70					1																	169695060		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169695060A>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1763T>G	1.37:g.169695060A>C	ENSP00000331736:p.Phe588Cys					SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C	p.F588C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			12	1902	-	all_hematologic(923;0.208)		588					A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1763T>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795961	0.50208	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.1;2.03;2.24;2.04;2.07;2.03;2.24;2.1;2.04	5.08	5.08	0.68730	.	0.206931	0.24539	N	0.037653	T	0.31857	0.0810	M	0.72894	2.215	0.35693	D	0.814992	D	0.76494	0.999	D	0.65573	0.936	T	0.25047	-1.0143	10	0.66056	D	0.02	-27.9936	11.5612	0.50778	1.0:0.0:0.0:0.0	.	588	P16581	LYAM2_HUMAN	C	525;525;463;462;588;525;463;525;462	ENSP00000356755:F525C;ENSP00000356756:F525C;ENSP00000356754:F463C;ENSP00000356753:F462C;ENSP00000331736:F588C;ENSP00000356751:F525C;ENSP00000356749:F463C;ENSP00000356750:F525C;ENSP00000356748:F462C	ENSP00000331736:F588C	F	-	2	0	SELE	167961684	1.000000	0.71417	0.986000	0.45419	0.487000	0.33371	5.264000	0.65513	2.050000	0.60909	0.528000	0.53228	TTT		0.323	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		8	296	0	0	0	1	0	8	296					C	169695060	A	C	169695060	3	2	79	1	0	0	0	0	1	0	0	0	14063	14	1	4	77	4	SELE	1	169695060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9	169695060	79555561	1413	11730	74	2									
C1orf156	92342	broad.mit.edu	37	chr1	169762397	169762397	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaaaagctttttgaaActatgttttctccagggaag	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169762397A>C	ENST00000310392.4	-	2	793	c.440T>G	c.(439-441)gTt>gGt	p.V147G	METTL18_ENST00000303469.2_Missense_Mutation_p.V147G|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	147						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						GCTTTTTGAAACTATGTTTTC	0.368																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(439-441)gTt>gGt		methyltransferase like 18							54	57	56					1																	169762397		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762397A>C	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.440T>G	1.37:g.169762397A>C	ENSP00000307975:p.Val147Gly					C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.V147G	p.V147G	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	793	-			147					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.440T>G	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427622	0.62733	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.56941	2.4;2.4;0.43	5.75	5.75	0.90469	.	0.516315	0.19835	N	0.104989	T	0.37785	0.1016	L	0.53249	1.67	0.39165	D	0.962477	P	0.48998	0.918	P	0.44477	0.451	T	0.23154	-1.0196	10	0.18710	T	0.47	0.0509	14.8872	0.70579	1.0:0.0:0.0:0.0	.	147	O95568	MET18_HUMAN	G	147	ENSP00000307975:V147G;ENSP00000307077:V147G;ENSP00000402305:V147G	ENSP00000307077:V147G	V	-	2	0	METTL18	168029021	0.121000	0.22262	0.035000	0.18076	0.988000	0.76386	4.384000	0.59607	2.191000	0.70037	0.533000	0.62120	GTT		0.368	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		7	362	0	0	0	1	0	7	362					C	169762397	A	C	169762397	3	2	79	1	0	0	0	0	1	0	0	0	2013	43	2	4	682	4	C1orf156	1	169762397	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67337	169762397	79488224	1414	11731											
C1orf112	55732	broad.mit.edu	37	chr1	169821053	169821053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaatgtgactgtagaAgaagcaaagaggtcatcttt	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	780										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACTGTAGAAGAAGCAAAGA	0.423																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2338-2340)gaA>gaG		chromosome 1 open reading frame 112							86	83	84					1																	169821053		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169821053A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2340A>G	1.37:g.169821053A>G						C1orf112_ENST00000359326.4_Silent_p.E780E|C1orf112_ENST00000498289.1_3'UTR	p.E780E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			23	3040	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		780					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.2340A>G	CCDS1285.1																																																																																				0.423	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		9	201	0	0	0	1	0	9	201					G	169821053	A	G	169821053	2	3	79	1	0	0	0	0	0	0	0	1	1992	69	3	4		4	C1orf112	1	169821053	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58656	169821053	79429568	1415	11732											
SCYL3	57147	broad.mit.edu	37	chr1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttagcaagcaagggtgaCgaagtgtcttcaaatgcttt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367770.1	-	2	229	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000367771.6_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGGTGACGAAGTGTCTT	0.408																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(181-183)cGt>cAt		SCY1-like 3 (S. cerevisiae)							104	104	104					1																	169847944		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169847944C>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.182G>A	1.37:g.169847944C>T	ENSP00000356744:p.Arg61His					SCYL3_ENST00000367770.1_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.R61H	p.R61H	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			3	379	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		61			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.182G>A	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170462	0.94768	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:1.0:0.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	H	61	ENSP00000356746:R61H;ENSP00000356745:R61H;ENSP00000356744:R61H;ENSP00000407993:R61H	.	R	-	2	0	SCYL3	168114568	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.338000	0.79269	2.668000	0.90789	0.563000	0.77884	CGT		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		42	581	0	0	0	1	0	42	581					T	169847944	C	T	169847944	3	4	79	1	0	0	0	0	1	0	0	0	13999	536	19	1	2094	1	SCYL3	1	169847944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26891	169847944	79402677	1416	11733											
KIFAP3	22920	broad.mit.edu	37	chr1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatgctgtggcagggcGtccaagaatgccaactggtt	12	10	0	1	rs184581509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000361580.2	-	20	2544	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R733C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	773					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(2197-2199)Cgc>Tgc		kinesin-associated protein 3							102	87	92					1																	169890879		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169890879G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2317C>T	1.37:g.169890879G>A	ENSP00000354560:p.Arg773Cys					KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R773C	p.R733C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			20	3698	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		773					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2197C>T	CCDS1288.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.609773	0.87258	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.51817	0.73;0.73;0.73;0.71;0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.03840	-1.0999	9	.	.	.	-6.5391	17.8515	0.88748	0.0:0.0:1.0:0.0	.	773	Q92845	KIFA3_HUMAN	C	773;733;729;475;695	ENSP00000354560:R773C;ENSP00000356739:R733C;ENSP00000356741:R729C;ENSP00000442712:R475C;ENSP00000444622:R695C	.	R	-	1	0	KIFAP3	168157503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC		0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		29	168	0	0	0	1	0	29	168					A	169890879	G	A	169890879	3	1	79	1	0	0	0	0	1	0	0	0	8341	1145	40	1	65	1	KIFAP3	1	169890879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42935	169890879	79359742	1417	11734											
KIFAP3	22920	broad.mit.edu	37	chr1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattatcacagacctttcGgatttcattattcttatcat	4	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000361580.2	-	17	2175	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R610*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	650					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGACCTTTCGGATTTCATTA	0.313																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1828-1830)Cga>Tga		kinesin-associated protein 3							57	56	56					1																	169941689		2198	4284	6482	SO:0001587	stop_gained	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169941689G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1948C>T	1.37:g.169941689G>A	ENSP00000354560:p.Arg650*					KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.R650*	p.R610*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			17	3329	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		650					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	37	c.1828C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.162878	0.98683	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.22	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5189	13.7898	0.63133	0.0:0.0:0.599:0.401	.	.	.	.	X	650;610;606;352;572	.	.	R	-	1	2	KIFAP3	168208313	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.632000	0.46511	0.212000	0.20703	0.555000	0.69702	CGA		0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		6	50	0	0	0	1	0	6	50					A	169941689	G	A	169941689	4	1	79	1	0	0	0	0	0	1	0	0	8341	1124	39	1	446	1	KIFAP3	1	169941689	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50810	169941689	79308932	1418	11735											
KIFAP3	22920	broad.mit.edu	37	chr1	169951979	169951979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcttcttcatcattagaGatctgggctgcaaggtcccc	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000361580.2	-	14	1763	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000367765.1_Silent_p.I472I|KIFAP3_ENST00000538366.1_Silent_p.I434I	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	512					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1414-1416)atC>atT		kinesin-associated protein 3							64	62	63					1																	169951979		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951979G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1536C>T	1.37:g.169951979G>A						KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000361580.2_Silent_p.I512I	p.I472I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			14	2917	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		512					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1416C>T	CCDS1288.1																																																																																				0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		20	222	0	0	0	1	0	20	222					A	169951979	G	A	169951979	2	1	79	1	0	0	0	0	0	0	0	1	8341	932	33	2		2	KIFAP3	1	169951979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10290	169951979	79298642	1419	11736											
C1orf129	80133	broad.mit.edu	37	chr1	170959134	170959134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttatggactacccagttCcagcagacgagtaaggcccc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170959134C>T	ENST00000367758.3	+	11	1117	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	MROH9_ENST00000367759.4_Missense_Mutation_p.P340S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	340																	CTACCCAGTTCCAGCAGACGA	0.473																																						ENST00000367759.4																			0											c.(1018-1020)Cca>Tca		maestro heat-like repeat family member 9							84	80	82					1																	170959134		1928	4140	6068	SO:0001583	missense	80133							g.chr1:170959134C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1018C>T	1.37:g.170959134C>T	ENSP00000356732:p.Pro340Ser					MROH9_ENST00000367758.3_Missense_Mutation_p.P340S	p.P340S	NM_001163629.1	NP_001157101.1					11	1172	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1018C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841288	0.51057	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.39787	2.84;1.06	5.18	5.18	0.71444	Armadillo-like helical (1);	0.000000	0.64402	D	0.000016	T	0.55545	0.1927	M	0.69823	2.125	0.35261	D	0.779558	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63278	-0.6673	10	0.87932	D	0	-12.2862	14.1871	0.65612	0.0:1.0:0.0:0.0	.	340;340	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	340	ENSP00000356733:P340S;ENSP00000356732:P340S	ENSP00000356732:P340S	P	+	1	0	C1orf129	169225758	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	3.545000	0.53648	2.402000	0.81655	0.467000	0.42956	CCA		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		45	224	0	0	0	1	0	45	224					T	170959134	C	T	170959134	3	4	79	1	0	0	0	0	1	0	0	0	2003	855	30	2	1056	2	C1orf129	1	170959134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1007155	170959134	78291487	1420	11737											
C1orf129	80133	broad.mit.edu	37	chr1	170965707	170965707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactgcaacaggtggataTtactctaatgaaggagaatt	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170965707T>C	ENST00000367758.3	+	14	1496	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	MROH9_ENST00000367759.4_Missense_Mutation_p.I466T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	466																	CAGGTGGATATTACTCTAATG	0.448																																						ENST00000367759.4																			0											c.(1396-1398)aTt>aCt		maestro heat-like repeat family member 9							178	170	172					1																	170965707		1876	4111	5987	SO:0001583	missense	80133							g.chr1:170965707T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1397T>C	1.37:g.170965707T>C	ENSP00000356732:p.Ile466Thr					MROH9_ENST00000367758.3_Missense_Mutation_p.I466T	p.I466T	NM_001163629.1	NP_001157101.1					14	1551	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1397T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	4.605	0.112402	0.08831	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.12984	4.32;2.63	5.75	-11.5	0.00074	.	2.917160	0.00639	N	0.000512	T	0.01905	0.0060	N	0.25647	0.755	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.08055	0.003;0.003	T	0.19386	-1.0307	10	0.19147	T	0.46	5.379	8.5234	0.33291	0.1652:0.5609:0.1613:0.1125	.	466;466	F5GWX6;Q5TGP6	.;CA129_HUMAN	T	466	ENSP00000356733:I466T;ENSP00000356732:I466T	ENSP00000356732:I466T	I	+	2	0	C1orf129	169232331	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.968000	0.00165	-2.614000	0.00443	-0.250000	0.11733	ATT		0.448	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		22	665	0	0	0	1	0	22	665					C	170965707	T	C	170965707	3	2	79	1	0	0	0	0	1	0	0	0	2003	1493	52	4	1447	4	C1orf129	1	170965707	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6573	170965707	78284914	1421	11738											
FMO3	2328	broad.mit.edu	37	chr1	171083225	171083225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtccgtaaagcctaaCgtgaaggaattcacagagac	10	8	1	2	rs2066536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000538429.1_Silent_p.N239N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	302					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)			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)	TAAAGCCTAACGTGAAGGAAT	0.453																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(904-906)aaC>aaT		flavin containing monooxygenase 3		C	,	2,4404	4.2+/-10.8	0,2,2201	139	122	128		906,906	-5.5	0.9	1	dbSNP_98	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	302/533,302/533	171083225	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083225C>T	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.906C>T	1.37:g.171083225C>T						FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000538429.1_Silent_p.N239N|FMO3_ENST00000392085.2_Silent_p.N302N	p.N302N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1017	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		302					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.906C>T	CCDS1292.1																																																																																				0.453	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		93	262	0	0	0	1	0	93	262					T	171083225	C	T	171083225	2	4	79	1	0	0	0	0	0	0	0	1	5981	535	19	1		1	FMO3	1	171083225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117518	171083225	78167396	1422	11739											
FMO2	2327	broad.mit.edu	37	chr1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtttcgttctatgctccGcaatgtactgccacgaacag	9	13	1	0	rs144453751	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000209929.7	+	6	889	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	244					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTATGCTCCGCAATGTACTG	0.473													G|||	5	0.000998403	0.0	0.0	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0051					ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(730-732)cGc>cAc		flavin containing monooxygenase 2 (non-functional)		G	HIS/ARG	0,4406		0,0,2203	124	100	108		731	2.1	0.5	1	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO2	NM_001460.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	244/472	171173107	2,13004	2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171173107G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.731G>A	1.37:g.171173107G>A	ENSP00000209929:p.Arg244His					FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445290.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	p.R244H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			6	848	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		244					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.731G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080127	0.36662	0.0	2.33E-4	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.55413	0.52;0.52	6.13	2.14	0.27477	.	0.510314	0.20530	N	0.090523	T	0.49423	0.1556	M	0.69523	2.12	0.20196	N	0.999921	D	0.64830	0.994	D	0.66084	0.941	T	0.42378	-0.9455	10	0.30078	T	0.28	-4.5642	8.6367	0.33953	0.4608:0.0:0.5392:0.0	.	244	Q99518	FMO2_HUMAN	H	244	ENSP00000209929:R244H;ENSP00000405905:R244H	ENSP00000209929:R244H	R	+	2	0	FMO2	169439731	0.000000	0.05858	0.525000	0.27900	0.025000	0.11179	-0.123000	0.10611	0.151000	0.19162	-0.141000	0.14075	CGC		0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		51	221	0	0	0	1	0	51	221					A	171173107	G	A	171173107	3	1	79	1	0	0	0	0	1	0	0	0	5980	1087	38	1	749	1	FMO2	1	171173107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89882	171173107	78077514	1423	11740											
FMO2	2327	broad.mit.edu	37	chr1	171177942	171177942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactaaggtttggagaAagccagagccagacgttgca	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000209929.7	+	9	1424	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	FMO2_ENST00000441535.1_Silent_p.E422E|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	422					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGGAGAAAGCCAGAGCC	0.408																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1264-1266)gaA>gaG		flavin containing monooxygenase 2 (non-functional)							152	147	149					1																	171177942		2203	4300	6503	SO:0001819	synonymous_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171177942A>G	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1266A>G	1.37:g.171177942A>G						FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.E422E|RP1-127D3.4_ENST00000445290.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	p.E422E	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			9	1383	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		422					Q53XR0	Silent	SNP	ENST00000209929.7	37	c.1266A>G	CCDS1293.1																																																																																				0.408	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		120	649	0	0	0	1	0	120	649					G	171177942	A	G	171177942	2	3	79	1	0	0	0	0	0	0	0	1	5980	11	1	4		4	FMO2	1	171177942	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4835	171177942	78072679	1424	11741											
FMO1	2326	broad.mit.edu	37	chr1	171248003	171248003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaggccagccacctggCggaaaaggtacattcctgat	13	10	0	1	rs146934200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171248003C>T	ENST00000354841.4	+	4	751	c.620C>T	c.(619-621)gCg>gTg	p.A207V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	207					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGCCACCTGGCGGAAAAGGTA	0.428																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(619-621)gCg>gTg		flavin containing monooxygenase 1		C	VAL/ALA	0,4406		0,0,2203	58	58	58		620	5.3	0.4	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO1	NM_002021.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	207/533	171248003	2,13004	2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171248003C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.620C>T	1.37:g.171248003C>T	ENSP00000346901:p.Ala207Val					FMO1_ENST00000367750.3_Missense_Mutation_p.A207V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A144V	p.A207V			Q01740	FMO1_HUMAN			4	751	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		207					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.620C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	38	6.696619	0.97772	0.0	2.33E-4	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.34	5.34	0.76211	.	0.115098	0.56097	D	0.000024	T	0.81380	0.4810	M	0.91561	3.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.74348	0.983;0.745;0.97	D	0.84607	0.0676	10	0.62326	D	0.03	.	18.1935	0.89813	0.0:1.0:0.0:0.0	.	144;207;207	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	V	207;207;144;207	ENSP00000356724:A207V;ENSP00000406982:A207V;ENSP00000385543:A144V;ENSP00000346901:A207V	ENSP00000346901:A207V	A	+	2	0	FMO1	169514627	1.000000	0.71417	0.437000	0.26809	0.936000	0.57629	7.625000	0.83145	2.665000	0.90641	0.563000	0.77884	GCG		0.428	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		8	249	0	0	0	1	0	8	249					T	171248003	C	T	171248003	3	4	79	1	0	0	0	0	1	0	0	0	5979	768	27	1	634	1	FMO1	1	171248003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70061	171248003	78002618	1425	11742											
FMO4	2329	broad.mit.edu	37	chr1	171303754	171303754	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaacctcttaaaagcctCtgtacaaagaagatatttct	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	344					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAGCCTCTGTACAAAGA	0.378																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			1	Substitution - coding silent(1)	p.L344L(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1030-1032)ctC>ctA		flavin containing monooxygenase 4							84	89	88					1																	171303754		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303754C>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1032C>A	1.37:g.171303754C>A							p.L344L	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			8	1362	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		344					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.1032C>A	CCDS1295.1																																																																																				0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		11	561	1	0	0.010729	1	0.0107869	11	561					A	171303754	C	A	171303754	2	1	79	1	0	0	0	0	0	0	0	1	5982	900	32	3		3	FMO4	1	171303754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55751	171303754	77946867	1426	11743											
BAT2L2	23215	broad.mit.edu	37	chr1	171548988	171548988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacttcagttcagcagattCcaatccctatttatgcacca	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171548988C>T	ENST00000338920.4	+	28	7525	c.7288C>T	c.(7288-7290)Cca>Tca	p.P2430S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2432S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2365S|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2432S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2430	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCAGCAGATTCCAATCCCTAT	0.423																																						ENST00000367742.3																			0											c.(7294-7296)Cca>Tca		proline-rich coiled-coil 2C							108	103	105					1																	171548988		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171548988C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7288C>T	1.37:g.171548988C>T	ENSP00000343629:p.Pro2430Ser					PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2430S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2432S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2365S	p.P2432S			Q9Y520	PRC2C_HUMAN			28	7536	+			2430			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7294C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634739	0.67130	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03889	3.77;3.81;3.8;3.8	5.26	5.26	0.73747	.	0.000000	0.44902	D	0.000420	T	0.13415	0.0325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01899	-1.1251	10	0.44086	T	0.13	.	18.8668	0.92294	0.0:1.0:0.0:0.0	.	2430	Q9Y520-4	.	S	2432;2384;2365;2432;2430;2187	ENSP00000375928:P2432S;ENSP00000410219:P2365S;ENSP00000356716:P2432S;ENSP00000343629:P2430S	ENSP00000343629:P2430S	P	+	1	0	PRRC2C	169815612	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.356000	0.79445	2.466000	0.83321	0.313000	0.20887	CCA		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		64	196	0	0	0	1	0	64	196					T	171548988	C	T	171548988	3	4	79	1	0	0	0	0	1	0	0	0	1322	855	30	2	7394	2	BAT2L2	1	171548988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245234	171548988	77701633	1427	11744											
BAT2L2	23215	broad.mit.edu	37	chr1	171553157	171553157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcctttctggtactgCtattcacaactttccaactg	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171553157C>A	ENST00000338920.4	+	29	7703	c.7466C>A	c.(7465-7467)gCt>gAt	p.A2489D	PRRC2C_ENST00000392078.3_Missense_Mutation_p.A2491D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A2424D|PRRC2C_ENST00000367742.3_Missense_Mutation_p.A2491D	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2489	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCTGGTACTGCTATTCACAAC	0.408																																						ENST00000367742.3																			0											c.(7471-7473)gCt>gAt		proline-rich coiled-coil 2C							135	126	129					1																	171553157		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171553157C>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7466C>A	1.37:g.171553157C>A	ENSP00000343629:p.Ala2489Asp					PRRC2C_ENST00000338920.4_Missense_Mutation_p.A2489D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A2491D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A2424D	p.A2491D			Q9Y520	PRC2C_HUMAN			29	7714	+			2489			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7472C>A	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353405|4.353405	0.82243|0.82243	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.03301|.	3.99;3.98;3.98;3.98|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.149763|.	0.30830|.	N|.	0.008793|.	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999964|0.999964	B;D|.	0.53462|.	0.079;0.96|.	B;P|.	0.51229|.	0.035;0.663|.	T|T	0.56541|0.56541	-0.7962|-0.7962	10|5	0.87932|.	D|.	0|.	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2424;2489|.	B7WNZ6;Q9Y520-4|.	.;.|.	D|I	2491;2443;2424;2491;2489;2246|972	ENSP00000375928:A2491D;ENSP00000410219:A2424D;ENSP00000356716:A2491D;ENSP00000343629:A2489D|.	ENSP00000343629:A2489D|.	A|L	+|+	2|1	0|2	PRRC2C|PRRC2C	169819781|169819781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.277000|7.277000	0.78572|0.78572	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCT|CTA		0.408	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		18	545	1	0	6.94344e-10	1	7.33246e-10	18	545					A	171553157	C	A	171553157	3	1	79	1	0	0	0	0	1	0	0	0	1322	797	28	3	7576	3	BAT2L2	1	171553157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4169	171553157	77697464	1428	11745											
BAT2L2	23215	broad.mit.edu	37	chr1	171560857	171560857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctcctgaaacactgacCgaccctcctggggtctgtca	8	15	2	2	rs190638001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171560857C>T	ENST00000338920.4	+	34	8562	c.8325C>T	c.(8323-8325)acC>acT	p.T2775T	PRRC2C_ENST00000392078.3_Silent_p.T2856T|PRRC2C_ENST00000426496.2_Silent_p.T2710T|PRRC2C_ENST00000367742.3_Silent_p.T2777T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2854					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAACACTGACCGACCCTCCTG	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15918	0.0		0.0	False		,,,				2504	0.0					ENST00000367742.3																			0											c.(8329-8331)acC>acT		proline-rich coiled-coil 2C							71	71	71					1																	171560857		1874	4100	5974	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171560857C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8325C>T	1.37:g.171560857C>T						PRRC2C_ENST00000338920.4_Silent_p.T2775T|PRRC2C_ENST00000392078.3_Silent_p.T2856T|PRRC2C_ENST00000426496.2_Silent_p.T2710T	p.T2777T			Q9Y520	PRC2C_HUMAN			34	8573	+			1053					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.8331C>T	CCDS1296.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.170	-0.641154	0.03557	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.58	-10.3	0.00346	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.45005	D	0.998024	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	.	4.3941	0.11355	0.1849:0.4339:0.0946:0.2866	.	.	.	.	L	1258	.	.	P	+	2	0	PRRC2C	169827480	0.000000	0.05858	0.171000	0.22900	0.777000	0.43975	-3.083000	0.00612	-1.942000	0.01040	-1.512000	0.00943	CCG		0.507	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		13	352	0	0	0	1	0	13	352					T	171560857	C	T	171560857	2	4	79	1	0	0	0	0	0	0	0	1	1322	639	23	1		1	BAT2L2	1	171560857	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7700	171560857	77689764	1429	11746											
MYOC	4653	broad.mit.edu	37	chr1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcctccaggtctaagCgttgggtgctgctgtctctc	14	11	2	0	rs201552559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	82			R -> C (in GLC1A).|R -> H.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTCTAAGCGTTGGGTGCT	0.582																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(244-246)cGc>cAc		myocilin, trabecular meshwork inducible glucocorticoid response							118	94	102					1																	171621507		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621507C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.245G>A	1.37:g.171621507C>T	ENSP00000037502:p.Arg82His						p.R82H	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			1	304	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		82		R -> C (in GLC1A).|R -> H.			B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.245G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270037	0.10349	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.57907	0.37	5.21	3.29	0.37713	.	0.342434	0.30809	N	0.008833	T	0.19327	0.0464	L	0.37561	1.115	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.09862	-1.0655	10	0.37606	T	0.19	.	6.7439	0.23451	0.0:0.7854:0.0:0.2146	.	82	Q99972	MYOC_HUMAN	H	82;82;15;82	ENSP00000037502:R82H	ENSP00000037502:R82H	R	-	2	0	MYOC	169888130	0.011000	0.17503	0.625000	0.29200	0.159000	0.22180	-0.090000	0.11163	1.285000	0.44548	0.655000	0.94253	CGC		0.582	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		35	440	0	0	0	1	0	35	440					T	171621507	C	T	171621507	3	4	79	1	0	0	0	0	1	0	0	0	10127	768	27	1	1281	1	MYOC	1	171621507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60650	171621507	77629114	1430	11747											
METTL13	51603	broad.mit.edu	37	chr1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcggcctgctgatgCggaggacctccctgcagccc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000466643.1_Intron|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	453							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1357-1359)gCg>gTg		methyltransferase like 13							98	93	95					1																	171759640		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171759640C>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.1358C>T	1.37:g.171759640C>T	ENSP00000354920:p.Ala453Val					METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000466643.1_Intron	p.A453V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			5	1624	+			453					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1358C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316117	0.10789	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.91	3.01	0.34805	.	0.690282	0.15326	N	0.268278	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.18863	0.031;0.001;0.031	B;B;B	0.16289	0.01;0.003;0.015	T	0.47898	-0.9081	10	0.23302	T	0.38	-17.3518	6.4455	0.21873	0.0:0.6607:0.1314:0.2079	.	452;297;453	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	452;367;297;453	ENSP00000401955:A452V;ENSP00000355393:A367V;ENSP00000356711:A297V;ENSP00000354920:A453V	ENSP00000354920:A453V	A	+	2	0	METTL13	170026263	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.257000	0.18369	0.397000	0.25310	-0.122000	0.15005	GCG		0.532	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		139	427	0	0	0	1	0	139	427					T	171759640	C	T	171759640	3	4	79	1	0	0	0	0	1	0	0	0	9538	768	27	1	1376	1	METTL13	1	171759640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138133	171759640	77490981	1431	11748											
METTL13	51603	broad.mit.edu	37	chr1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctgtcagctgcaccCtgagcaaaaacttgccacac	7	15	2	1	rs199878964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	656							methyltransferase activity (GO:0008168)	p.P656L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552																																						ENST00000361735.3																			1	Substitution - Missense(1)	p.P656L(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1966-1968)cCt>cAt		methyltransferase like 13							117	110	113					1																	171765763		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171765763C>A	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.1967C>A	1.37:g.171765763C>A	ENSP00000354920:p.Pro656His					METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000466643.1_3'UTR	p.P656H	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			8	2233	+			656					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1967C>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560058	0.65538	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.79	5.79	0.91817	.	0.459579	0.26742	N	0.022725	T	0.80110	0.4563	L	0.36672	1.1	0.20764	N	0.999852	B;D;B	0.56287	0.054;0.975;0.198	B;P;B	0.58660	0.018;0.843;0.28	T	0.76408	-0.2970	10	0.87932	D	0	-0.688	19.635	0.95728	0.0:1.0:0.0:0.0	.	655;500;656	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	655;570;500;656;356;353	ENSP00000401955:P655H;ENSP00000355393:P570H;ENSP00000356711:P500H;ENSP00000354920:P656H;ENSP00000356710:P356H	ENSP00000341732:P353H	P	+	2	0	METTL13	170032386	0.034000	0.19679	0.412000	0.26496	0.966000	0.64601	3.279000	0.51670	2.733000	0.93635	0.655000	0.94253	CCT		0.552	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		142	459	1	0	9.12202e-81	1	1.16676e-80	142	459					A	171765763	C	A	171765763	3	1	79	1	0	0	0	0	1	0	0	0	9538	681	24	3	1997	3	METTL13	1	171765763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6123	171765763	77484858	1432	11749											
C1orf9	51430	broad.mit.edu	37	chr1	172558587	172558587	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaacagaacaaaagtctgaGagctttagttctatagagaa	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172558587G>A	ENST00000263688.3	+	18	2565	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	SUCO_ENST00000367723.4_Silent_p.E933E|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Silent_p.E934E	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	782					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AAAAGTCTGAGAGCTTTAGTT	0.338																																						ENST00000367723.3																			0											c.(2800-2802)gaG>gaA		SUN domain containing ossification factor							46	47	46					1																	172558587		2190	4283	6473	SO:0001819	synonymous_variant	51430							g.chr1:172558587G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2346G>A	1.37:g.172558587G>A						SUCO_ENST00000263688.3_Silent_p.E782E	p.E934E	NM_016227.2	NP_057311.2					17	2926	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.2802G>A	CCDS1303.1																																																																																				0.338	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		73	220	0	0	0	1	0	73	220					A	172558587	G	A	172558587	2	1	79	1	0	0	0	0	0	0	0	1	2074	933	33	2		2	C1orf9	1	172558587	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792824	172558587	76692034	1433	11750											
C1orf9	51430	broad.mit.edu	37	chr1	172579371	172579371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccgtgggaacatttgGtgttacagcagtctcgggac	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172579371G>A	ENST00000263688.3	+	24	3956	c.3737G>A	c.(3736-3738)gGt>gAt	p.G1246D	SUCO_ENST00000367723.4_Missense_Mutation_p.G1397D|SUCO_ENST00000610051.1_Missense_Mutation_p.G875D|SUCO_ENST00000608151.1_Missense_Mutation_p.G1398D	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1246					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GGAACATTTGGTGTTACAGCA	0.363																																						ENST00000367723.3																			0											c.(4192-4194)gGt>gAt		SUN domain containing ossification factor							63	66	65					1																	172579371		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172579371G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3737G>A	1.37:g.172579371G>A	ENSP00000263688:p.Gly1246Asp					SUCO_ENST00000263688.3_Missense_Mutation_p.G1246D	p.G1398D	NM_016227.2	NP_057311.2					23	4317	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.4193G>A	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371797	0.61624	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	5.26	0.73747	.	0.099482	0.64402	D	0.000002	T	0.73659	0.3615	M	0.71581	2.175	0.58432	D	0.999995	D;D;D	0.71674	0.996;0.998;0.998	D;D;P	0.65443	0.935;0.922;0.896	T	0.76645	-0.2883	9	0.87932	D	0	-15.5508	17.7888	0.88546	0.0:0.0:1.0:0.0	.	875;1398;1246	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	D	1398;1246	.	ENSP00000263688:G1246D	G	+	2	0	C1orf9	170845994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.279000	0.72620	2.617000	0.88574	0.650000	0.86243	GGT		0.363	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		65	189	0	0	0	1	0	65	189					A	172579371	G	A	172579371	3	1	79	1	0	0	0	0	1	0	0	0	2074	1261	44	2	3831	2	C1orf9	1	172579371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20784	172579371	76671250	1434	11751											
FASLG	356	broad.mit.edu	37	chr1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccacaaggtctacAtgaggaactctaagtatccc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(637-639)Atg>Gtg		Fas ligand (TNF superfamily, member 6)							113	108	109					1																	172634947		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172634947A>G	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.637A>G	1.37:g.172634947A>G	ENSP00000356694:p.Met213Val					FASLG_ENST00000340030.3_3'UTR	p.M213V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			4	821	+			213					Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.637A>G	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055528	0.08291	.	.	ENSG00000117560	ENST00000367721	D	0.94330	-3.4	5.02	2.64	0.31445	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.431289	0.26715	N	0.022880	T	0.71745	0.3376	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63752	-0.6566	10	0.35671	T	0.21	-5.2216	6.2711	0.20955	0.7791:0.0:0.0793:0.1416	.	213	P48023	TNFL6_HUMAN	V	213	ENSP00000356694:M213V	ENSP00000356694:M213V	M	+	1	0	FASLG	170901570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	1.143000	0.31553	0.333000	0.23563	-0.263000	0.10527	ATG		0.512	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			88	496	0	0	0	1	0	88	496					G	172634947	A	G	172634947	3	3	79	1	0	0	0	0	1	0	0	0	5707	217	8	4	651	4	FASLG	1	172634947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55576	172634947	76615674	1435	11752											
TNFSF18	8995	broad.mit.edu	37	chr1	173010570	173010570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtattattttttagaacCtgatgctcagagttgaatat	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173010570C>A	ENST00000404377.3	-	3	537	c.537G>T	c.(535-537)caG>caT	p.Q179H	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	179					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTAGAACCTGATGCTCAG	0.368																																						ENST00000404377.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(535-537)caG>caT		tumor necrosis factor (ligand) superfamily, member 18							128	123	125					1																	173010570		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010570C>A	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.537G>T	1.37:g.173010570C>A	ENSP00000385470:p.Gln179His					TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H|RP1-15D23.2_ENST00000432694.1_RNA	p.Q179H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN			3	537	-			179					A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.537G>T	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012705	0.19277	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.94417	-3.42;-3.42	5.45	-0.157	0.13387	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	0.333776	0.26072	N	0.026520	T	0.74703	0.3751	L	0.28274	0.84	0.09310	N	0.999996	B	0.31040	0.305	B	0.34652	0.187	T	0.68727	-0.5332	10	0.14656	T	0.56	-6.4029	0.9816	0.01437	0.3293:0.341:0.15:0.1798	.	179	Q9UNG2	TNF18_HUMAN	H	179;157	ENSP00000385470:Q179H;ENSP00000239468:Q157H	ENSP00000239468:Q157H	Q	-	3	2	TNFSF18	171277193	0.857000	0.29778	0.836000	0.33094	0.877000	0.50540	0.128000	0.15810	0.315000	0.23110	0.655000	0.94253	CAG		0.368	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		11	410	1	0	4.68919e-08	1	4.88816e-08	11	410					A	173010570	C	A	173010570	3	1	79	1	0	0	0	0	1	0	0	0	16361	680	24	3	66	3	TNFSF18	1	173010570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375623	173010570	76240051	1436	11753											
SLC9A11	284525	broad.mit.edu	37	chr1	173486780	173486780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagaactctgtaaacatgtCtctggaccctctatcacacc	5	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173486780C>A	ENST00000367714.3	-	23	3225	c.2803G>T	c.(2803-2805)Gac>Tac	p.D935Y	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	935					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GTAAACATGTCTCTGGACCCT	0.393																																						ENST00000367714.3																			0											c.(2803-2805)Gac>Tac		solute carrier family 9, member C2 (putative)							141	146	144					1																	173486780		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173486780C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2803G>T	1.37:g.173486780C>A	ENSP00000356687:p.Asp935Tyr					SLC9C2_ENST00000466087.1_5'UTR	p.D935Y	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			23	3225	-			935					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2803G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	6.613	0.481434	0.12581	.	.	ENSG00000162753	ENST00000367714	T	0.42900	0.96	5.01	-0.188	0.13264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.904798	0.09292	N	0.822125	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.23716	0.048	T	0.37731	-0.9693	10	0.13470	T	0.59	-0.845	1.3934	0.02255	0.1504:0.1369:0.1556:0.5571	.	935	Q5TAH2	S9A11_HUMAN	Y	935	ENSP00000356687:D935Y	ENSP00000356687:D935Y	D	-	1	0	SLC9A11	171753403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.225000	0.09913	-0.882000	0.02950	GAC		0.393	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		54	551	1	0	3.40343e-31	1	4.00304e-31	54	551					A	173486780	C	A	173486780	3	1	79	1	0	0	0	0	1	0	0	0	14761	913	32	3	595	3	SLC9A11	1	173486780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	476210	173486780	75763841	1437	11754											
SLC9A11	284525	broad.mit.edu	37	chr1	173542452	173542452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatatacagatgaaaaAattcttaagaacctaggatg	7	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173542452A>C	ENST00000367714.3	-	9	1337	c.915T>G	c.(913-915)atT>atG	p.I305M	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203M	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	305					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CAGATGAAAAAATTCTTAAGA	0.264																																						ENST00000367714.3																			0											c.(913-915)atT>atG		solute carrier family 9, member C2 (putative)							33	35	34					1																	173542452		2200	4290	6490	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173542452A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.915T>G	1.37:g.173542452A>C	ENSP00000356687:p.Ile305Met					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203M|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	p.I305M	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			9	1337	-			305					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.915T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	0.368	-0.935365	0.02340	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06528	3.29;3.29	5.04	1.67	0.24075	Cation/H+ exchanger (1);	0.667115	0.14593	N	0.310103	T	0.00412	0.0013	N	0.00436	-1.5	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.46247	-0.9205	10	0.02654	T	1	-12.9559	7.3772	0.26835	0.3368:0.5059:0.1573:0.0	.	305	Q5TAH2	S9A11_HUMAN	M	305;203	ENSP00000356687:I305M;ENSP00000445437:I203M	ENSP00000356687:I305M	I	-	3	3	SLC9A11	171809075	0.237000	0.23815	0.376000	0.26042	0.065000	0.16274	-0.243000	0.08915	1.105000	0.41606	-0.286000	0.09958	ATT		0.264	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		25	80	0	0	0	1	0	25	80					C	173542452	A	C	173542452	3	2	79	1	0	0	0	0	1	0	0	0	14761	10	1	4	2539	4	SLC9A11	1	173542452	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55672	173542452	75708169	1438	11755											
KLHL20	27252	broad.mit.edu	37	chr1	173722355	173722355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttattttctcataggtgCtgcagcatgttcgtttgcct	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	254	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(760-762)Ctg>Ttg		kelch-like family member 20							76	72	74					1																	173722355		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173722355C>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.760C>T	1.37:g.173722355C>T						KLHL20_ENST00000546011.1_Silent_p.L65L	p.L254L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			5	896	+			254			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.760C>T	CCDS1310.1																																																																																				0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		24	171	0	0	0	1	0	24	171					T	173722355	C	T	173722355	2	4	79	1	0	0	0	0	0	0	0	1	8405	796	28	2		2	KLHL20	1	173722355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179903	173722355	75528266	1439	11756											
KLHL20	27252	broad.mit.edu	37	chr1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccctacagtggaacGttacaatcctcaggaaaaca	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	479					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1435-1437)cGt>cAt		kelch-like family member 20							73	69	70					1																	173744779		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744779G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1436G>A	1.37:g.173744779G>A	ENSP00000209884:p.Arg479His					KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	p.R479H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			10	1572	+			479					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1436G>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861815	0.32884	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81247	-1.47;-1.47	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.96208	3.785	0.80722	D	1	P;P	0.41393	0.646;0.748	B;B	0.42138	0.303;0.377	D	0.85542	0.1216	10	0.15499	T	0.54	.	17.8879	0.88862	0.0:0.0:1.0:0.0	.	290;479	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	290;479	ENSP00000443121:R290H;ENSP00000209884:R479H	ENSP00000209884:R479H	R	+	2	0	KLHL20	172011402	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.296000	0.96104	2.524000	0.85096	0.655000	0.94253	CGT		0.438	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		72	181	0	0	0	1	0	72	181					A	173744779	G	A	173744779	3	1	79	1	0	0	0	0	1	0	0	0	8405	1145	40	1	1470	1	KLHL20	1	173744779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22424	173744779	75505842	1440	11757											
KLHL20	27252	broad.mit.edu	37	chr1	173744849	173744849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaggaaacacctaggctgTgcagtatatcaggacatgat	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	502					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1504-1506)tgT>tgC		kelch-like family member 20							110	103	106					1																	173744849		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744849T>C	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1506T>C	1.37:g.173744849T>C						KLHL20_ENST00000546011.1_Silent_p.C313C	p.C502C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			10	1642	+			502					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1506T>C	CCDS1310.1																																																																																				0.488	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		67	368	0	0	0	1	0	67	368					C	173744849	T	C	173744849	2	2	79	1	0	0	0	0	0	0	0	1	8405	1702	59	4		4	KLHL20	1	173744849	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70	173744849	75505772	1441	11758											
CENPL	91687	broad.mit.edu	37	chr1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaggaaagattaaatGcattgattgctaaaggactg	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000345664.6	-	4	857	c.644C>T	c.(643-645)gCa>gTa	p.A215V	CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000356198.2_Missense_Mutation_p.A261V	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	215					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(781-783)gCa>gTa		centromere protein L							113	119	117					1																	173772420		2203	4300	6503	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173772420G>A	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.644C>T	1.37:g.173772420G>A	ENSP00000323543:p.Ala215Val					CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000345664.6_Missense_Mutation_p.A215V	p.A261V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			6	1067	-			215					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.782C>T	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856235	0.71834	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.48522	1.42;0.81;0.81	5.03	4.12	0.48240	.	0.193605	0.45867	D	0.000323	T	0.38532	0.1044	L	0.36672	1.1	0.31499	N	0.665073	D;B	0.60575	0.988;0.004	P;B	0.58721	0.844;0.012	T	0.31475	-0.9942	10	0.45353	T	0.12	.	12.5652	0.56306	0.082:0.0:0.918:0.0	.	261;215	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	261;215;215	ENSP00000348527:A261V;ENSP00000323543:A215V;ENSP00000356683:A215V	ENSP00000323543:A215V	A	-	2	0	CENPL	172039043	1.000000	0.71417	0.826000	0.32828	0.989000	0.77384	6.614000	0.74197	1.124000	0.41980	0.655000	0.94253	GCA		0.413	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		93	527	0	0	0	1	0	93	527					A	173772420	G	A	173772420	3	1	79	1	0	0	0	0	1	0	0	0	3245	1319	46	2	398	2	CENPL	1	173772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27571	173772420	75478201	1442	11759											
SERPINC1	462	broad.mit.edu	37	chr1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccttctctaccttggCcaggctcttctcaggcttgg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	325					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCTACCTTGGCCAGGCTCTTC	0.562																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(973-975)Gcc>Acc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						144	136	139					1																	173878870		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878870C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.973G>A	1.37:g.173878870C>T	ENSP00000356671:p.Ala325Thr						p.A325T	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	1091	-			325					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.973G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023934	0.08006	.	.	ENSG00000117601	ENST00000367698	D	0.82711	-1.64	5.45	3.58	0.41010	Serpin domain (3);	0.660844	0.16797	N	0.199144	T	0.60869	0.2302	L	0.48260	1.515	0.22873	N	0.998623	B	0.02656	0.0	B	0.04013	0.001	T	0.48969	-0.8987	10	0.24483	T	0.36	.	12.0354	0.53423	0.0:0.7947:0.0:0.2053	.	325	P01008	ANT3_HUMAN	T	325	ENSP00000356671:A325T	ENSP00000356671:A325T	A	-	1	0	SERPINC1	172145493	0.737000	0.28175	1.000000	0.80357	0.227000	0.25037	0.568000	0.23623	0.289000	0.22422	-0.797000	0.03246	GCC		0.562	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		120	659	0	0	0	1	0	120	659					T	173878870	C	T	173878870	3	4	79	1	0	0	0	0	1	0	0	0	14159	739	26	2	433	2	SERPINC1	1	173878870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106450	173878870	75371751	1443	11760											
SERPINC1	462	broad.mit.edu	37	chr1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggcttttcgatagagtCggcagttcagtttggcaaag	13	6	1	1	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva). {ECO:0000269|PubMed:2229057, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCGATAGAGTCGGCAGTTCAG	0.398																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CM900039	SERPINC1	M	rs121909563	c.(481-483)cGa>cAa		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	219	199	206	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	482	5.7	1	1	dbSNP_133	206	0,8600		0,0,4300	no	missense	SERPINC1	NM_000488.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	161/465	173881079	1,13005	2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881079C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.482G>A	1.37:g.173881079C>T	ENSP00000356671:p.Arg161Gln						p.R161Q	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			3	600	-			161		R -> Q (in AT3D; type-II; Geneva).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.482G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253842	0.95336	2.27E-4	0.0	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84516	-1.86	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.33093	0.98	0.80722	A	1	D	0.89917	1.0	D	0.67382	0.951	D	0.87179	0.2226	9	0.54805	T	0.06	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	161	P01008	ANT3_HUMAN	Q	161	ENSP00000356671:R161Q	ENSP00000307953:R161Q	R	-	2	0	SERPINC1	172147702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	CGA		0.398	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		115	655	0	0	0	1	0	115	655					T	173881079	C	T	173881079	3	4	79	1	0	0	0	0	1	0	0	0	14159	884	31	1	932	1	SERPINC1	1	173881079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2209	173881079	75369542	1444	11761											
RC3H1	149041	broad.mit.edu	37	chr1	173931058	173931058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactcgacggccatcataGtgagatgggtatataggtgg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000367694.2_Silent_p.H669H|RC3H1_ENST00000258349.4_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	669	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(2005-2007)caC>caT		ring finger and CCCH-type domains 1							249	240	243					1																	173931058		2203	4300	6503	SO:0001819	synonymous_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173931058G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2007C>T	1.37:g.173931058G>A						RC3H1_ENST00000367694.2_Silent_p.H669H|RC3H1_ENST00000258349.4_Silent_p.H669H	p.H669H			Q5TC82	RC3H1_HUMAN			12	2358	-			669			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.2007C>T	CCDS30940.1																																																																																				0.488	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		221	569	0	0	0	1	0	221	569					A	173931058	G	A	173931058	2	1	79	1	0	0	0	0	0	0	0	1	13216	1020	36	2		2	RC3H1	1	173931058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49979	173931058	75319563	1445	11762											
RC3H1	149041	broad.mit.edu	37	chr1	173947683	173947683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttagtcggttcaagtTtgctgggtctccagttcgct	13	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173947683T>G	ENST00000367696.2	-	7	1396	c.1045A>C	c.(1045-1047)Aac>Cac	p.N349H	RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H|RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	349					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGGTTCAAGTTTGCTGGGTCT	0.423																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1045-1047)Aac>Cac		ring finger and CCCH-type domains 1							112	114	113					1																	173947683		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173947683T>G	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1045A>C	1.37:g.173947683T>G	ENSP00000356669:p.Asn349His					RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H|RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H	p.N349H			Q5TC82	RC3H1_HUMAN			7	1396	-			349					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1045A>C	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818545	0.90790	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.93859	-3.3;-3.3;-3.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.74023	0.96;0.96;0.982;0.952	D	0.95993	0.8987	10	0.72032	D	0.01	-15.3279	15.8908	0.79296	0.0:0.0:0.0:1.0	.	349;349;349;349	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	349	ENSP00000356669:N349H;ENSP00000258349:N349H;ENSP00000356667:N349H	ENSP00000258349:N349H	N	-	1	0	RC3H1	172214306	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.037000	0.88933	2.144000	0.66660	0.529000	0.55759	AAC		0.423	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		9	417	0	0	0	1	0	9	417					G	173947683	T	G	173947683	3	3	79	1	0	0	0	0	1	0	0	0	13216	1841	64	4	2412	4	RC3H1	1	173947683	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16625	173947683	75302938	1446	11763											
RABGAP1L	9910	broad.mit.edu	37	chr1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaattggaaaaagccatgGaagagattttgagagattcc	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373																																						ENST00000251507.4																			1	Substitution - Nonsense(1)	p.E60*(1)	lung(1)	NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(178-180)Gaa>Aaa		RAB GTPase activating protein 1-like							141	142	142					1																	174190149		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190149G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.178G>A	1.37:g.174190149G>A	ENSP00000251507:p.Glu60Lys					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	p.E60K	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			3	352	+			60					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.178G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418065	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.54675	0.56;3.39;0.82	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	T	0.65048	0.2654	M	0.68593	2.085	0.80722	D	1	D;P;P	0.54601	0.967;0.945;0.948	B;P;B	0.55508	0.427;0.777;0.443	T	0.60444	-0.7262	10	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	60;60;23	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	K	23;60;60;60	ENSP00000350027:E23K;ENSP00000251507:E60K;ENSP00000403136:E60K	ENSP00000251507:E60K	E	+	1	0	RABGAP1L	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA		0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		110	532	0	0	0	1	0	110	532					A	174190149	G	A	174190149	3	1	79	1	0	0	0	0	1	0	0	0	13015	1175	41	2	184	2	RABGAP1L	1	174190149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242466	174190149	75060472	1447	11764											
RABGAP1L	9910	broad.mit.edu	37	chr1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttacagagagttcccAtggttcggaagaatttcaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(664-666)cAt>cGt		RAB GTPase activating protein 1-like							87	83	85					1																	174210743		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174210743A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.665A>G	1.37:g.174210743A>G	ENSP00000251507:p.His222Arg					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	p.H222R	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			5	839	+			222			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.665A>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456919	0.26161	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.17370	2.28;2.28;2.28	5.41	2.66	0.31614	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.279450	0.35739	N	0.003006	T	0.04452	0.0122	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.29579	-1.0007	10	0.26408	T	0.33	.	1.6768	0.02823	0.4307:0.3079:0.1118:0.1496	.	222;222;185	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	185;222;222;222	ENSP00000350027:H185R;ENSP00000251507:H222R;ENSP00000403136:H222R	ENSP00000251507:H222R	H	+	2	0	RABGAP1L	172477366	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.531000	0.53546	0.854000	0.35336	0.460000	0.39030	CAT		0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		79	253	0	0	0	1	0	79	253					G	174210743	A	G	174210743	3	3	79	1	0	0	0	0	1	0	0	0	13015	217	8	4	679	4	RABGAP1L	1	174210743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20594	174210743	75039878	1448	11765											
RABGAP1L	9910	broad.mit.edu	37	chr1	174241551	174241551	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttcccccaatattttcaGatgttttggaatgttattaa	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like											NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.e8-1		RAB GTPase activating protein 1-like							149	142	144					1																	174241551		2203	4297	6500	SO:0001630	splice_region_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174241551G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.987-1G>A	1.37:g.174241551G>A						RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			8	1160	+								B7ZAA4	Splice_Site	SNP	ENST00000251507.4	37		CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092449	0.94149	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1L	172508174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.700000	0.92200	0.563000	0.77884	.		0.348	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	Intron	82	407	0	0	0	1	0	82	407					A	174241551	G	A	174241551	5	1	79	1	0	0	0	0	0	0	1	0	13015	956	33	2	1012	2	RABGAP1L	1	174241551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30808	174241551	75009070	1449	11766											
RABGAP1L	9910	broad.mit.edu	37	chr1	174363157	174363157	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaaccttggtgcacgaccGaaagggctgtctactctggt	12	10	2	0	rs567367046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000367689.3_Silent_p.P175P|RABGAP1L_ENST00000357444.6_Silent_p.P491P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19552	0.0		0.0	False		,,,				2504	0.001					ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(1582-1584)ccG>ccA		RAB GTPase activating protein 1-like																																				SO:0001819	synonymous_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174363157G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1584G>A	1.37:g.174363157G>A						RABGAP1L_ENST00000367689.3_Silent_p.P175P|RABGAP1L_ENST00000357444.6_Silent_p.P491P	p.P528P	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			13	1758	+			528					B7ZAA4	Silent	SNP	ENST00000251507.4	37	c.1584G>A	CCDS1314.1																																																																																				0.483	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		48	559	0	0	0	1	0	48	559					A	174363157	G	A	174363157	2	1	79	1	0	0	0	0	0	0	0	1	13015	1045	37	1		1	RABGAP1L	1	174363157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121606	174363157	74887464	1450	11767											
CACYBP	27101	broad.mit.edu	37	chr1	174979110	174979110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggattgatgaatgtTctaaagaaaatttatgaaga	11	1	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000367679.2	+	6	1030	c.582T>C	c.(580-582)gtT>gtC	p.V194V	CACYBP_ENST00000405362.1_Silent_p.V151V|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Silent_p.V151V	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	194	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(451-453)gtT>gtC		calcyclin binding protein							71	72	72					1																	174979110		2203	4300	6503	SO:0001819	synonymous_variant	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174979110T>C	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.582T>C	1.37:g.174979110T>C						CACYBP_ENST00000367679.2_Silent_p.V194V|CACYBP_ENST00000405362.1_Silent_p.V151V	p.V151V	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			6	1093	+			194			CS.|Interaction with SKP1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	ENST00000367679.2	37	c.453T>C	CCDS1315.1																																																																																				0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		95	236	0	0	0	1	0	95	236					C	174979110	T	C	174979110	2	2	79	1	0	0	0	0	0	0	0	1	2571	1770	62	4		4	CACYBP	1	174979110	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	615953	174979110	74271511	1451	11768											
TNN	63923	broad.mit.edu	37	chr1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactctggagcctcccGgctgcagcaacaaggagcaa	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	32					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGCCTCCCGGCTGCAGCAA	0.602																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(94-96)Ggc>Agc		tenascin N							63	55	58					1																	175046648		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046648G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.94G>A	1.37:g.175046648G>A	ENSP00000239462:p.Gly32Ser						p.G32S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	207	+		Breast(1374;0.000962)	32					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.94G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198149	0.06219	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23950	1.88	5.51	-0.53	0.11898	.	0.570052	0.18192	N	0.148793	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.033;0.139	B;B	0.12156	0.003;0.007	T	0.13791	-1.0496	10	0.48119	T	0.1	.	9.2488	0.37543	0.5862:0.0:0.4138:0.0	.	32;32	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	32	ENSP00000239462:G32S	ENSP00000239462:G32S	G	+	1	0	TNN	173313271	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.451000	0.21779	-0.193000	0.10415	-0.797000	0.03246	GGC		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		17	411	0	0	0	1	0	17	411					A	175046648	G	A	175046648	3	1	79	1	0	0	0	0	1	0	0	0	16375	1116	39	1	96	1	TNN	1	175046648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67538	175046648	74203973	1452	11769											
TNN	63923	broad.mit.edu	37	chr1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagggccccgcctgcgagCggctggcctgccccggggcg	20	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	168	EGF-like 1.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCTGCGAGCGGCTGGCCTG	0.736																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(502-504)Cgg>Tgg		tenascin N							5	7	6					1																	175048561		1883	3851	5734	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048561C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.502C>T	1.37:g.175048561C>T	ENSP00000239462:p.Arg168Trp						p.R168W	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	615	+		Breast(1374;0.000962)	168			EGF-like 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.502C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357543	0.24598	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03358	3.96	4.46	3.53	0.40419	.	1.169990	0.06082	N	0.661968	T	0.09113	0.0225	M	0.81802	2.56	0.09310	N	0.999998	D;B	0.60160	0.987;0.159	B;B	0.38712	0.28;0.02	T	0.48896	-0.8994	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.8483:0.1517:0.0	.	168;168	B3KXB6;Q9UQP3	.;TENN_HUMAN	W	168	ENSP00000239462:R168W	ENSP00000239462:R168W	R	+	1	2	TNN	173315184	0.004000	0.15560	0.423000	0.26634	0.069000	0.16628	1.331000	0.33793	0.948000	0.37687	0.491000	0.48974	CGG		0.736	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		28	65	0	0	0	1	0	28	65					T	175048561	C	T	175048561	3	4	79	1	0	0	0	0	1	0	0	0	16375	759	27	1	508	1	TNN	1	175048561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	175048561	74202060	1453	11770											
TNN	63923	broad.mit.edu	37	chr1	175049459	175049459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccaaggagcagcacagCtatgagattcttggtttgct	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	315	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGCACAGCTATGAGATTC	0.547																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(943-945)agC>agT		tenascin N							120	114	116					1																	175049459		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049459C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.945C>T	1.37:g.175049459C>T							p.S315S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1058	+		Breast(1374;0.000962)	315			Fibronectin type-III 1.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.945C>T	CCDS30943.1																																																																																				0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	428	0	0	0	1	0	16	428					T	175049459	C	T	175049459	2	4	79	1	0	0	0	0	0	0	0	1	16375	796	28	2		2	TNN	1	175049459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898	175049459	74201162	1454	11771											
TNR	7143	broad.mit.edu	37	chr1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagcttcctatgcggaGtttgtacaggtttctgctgt	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1255I			Q92752	TENR_HUMAN	tenascin R	1255	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)				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)					CCTATGCGGAGTTTGTACAGG	0.602																																						ENST00000367674.1																			0				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						c.(3763-3765)Ctc>Atc		tenascin R							94	77	83					1																	175299240		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299240G>T	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.3763C>A	1.37:g.175299240G>T	ENSP00000356646:p.Leu1255Ile					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1255I	p.L1255I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			21	4471	-	Renal(580;0.146)		1255			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3763C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428684	0.43122	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82619	-1.63;-1.63	5.64	4.72	0.59763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.070418	0.64402	N	0.000017	D	0.85805	0.5782	M	0.82517	2.595	0.54753	D	0.999987	B	0.11235	0.004	B	0.28232	0.087	D	0.83952	0.0317	10	0.62326	D	0.03	.	15.8324	0.78764	0.0:0.0:0.8634:0.1366	.	1255	Q92752	TENR_HUMAN	I	1255;1255;1165	ENSP00000356646:L1255I;ENSP00000263525:L1255I	ENSP00000263525:L1255I	L	-	1	0	TNR	173565863	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.105000	0.64591	1.354000	0.45846	0.655000	0.94253	CTC		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		102	272	1	0	9.27813e-46	1	1.13844e-45	102	272					T	175299240	G	T	175299240	3	4	79	1	0	0	0	0	1	0	0	0	16390	1029	36	3	325	3	TNR	1	175299240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249781	175299240	73951381	1455	11772											
TNR	7143	broad.mit.edu	37	chr1	175304878	175304878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctccacgttcccgaaGccaacacggtaatcagccca	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.G1200G			Q92752	TENR_HUMAN	tenascin R	1200	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)				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)					CGTTCCCGAAGCCAACACGGT	0.433																																						ENST00000367674.1																			0				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						c.(3598-3600)ggC>ggT		tenascin R							167	168	168					1																	175304878		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175304878G>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.3600C>T	1.37:g.175304878G>A						TNR_ENST00000263525.2_Silent_p.G1200G	p.G1200G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			20	4308	-	Renal(580;0.146)		1200			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.3600C>T	CCDS1318.1																																																																																				0.433	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		109	576	0	0	0	1	0	109	576					A	175304878	G	A	175304878	2	1	79	1	0	0	0	0	0	0	0	1	16390	958	34	2		2	TNR	1	175304878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5638	175304878	73945743	1456	11773											
TNR	7143	broad.mit.edu	37	chr1	175328762	175328762	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccacctgcaaagtgtgtaAgaacaatgacgtagttctcc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.2	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R			Q92752	TENR_HUMAN	tenascin R	987	Fibronectin type-III 8. {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)				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)					AAAGTGTGTAAGAACAATGAC	0.507																																						ENST00000367674.1																			0				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						c.(2959-2961)cTt>cGt		tenascin R							131	114	120					1																	175328762		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175328762A>C	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.2960T>G	1.37:g.175328762A>C	ENSP00000356646:p.Leu987Arg					TNR_ENST00000263525.2_Missense_Mutation_p.L987R	p.L987R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			15	3668	-	Renal(580;0.146)		987			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2960T>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496836	0.85069	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58358	0.34;0.34	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150990	0.45361	D	0.000370	T	0.63546	0.2520	M	0.63428	1.95	0.58432	D	0.999997	P	0.45569	0.861	P	0.51918	0.684	T	0.66976	-0.5787	10	0.72032	D	0.01	.	15.6349	0.76944	1.0:0.0:0.0:0.0	.	987	Q92752	TENR_HUMAN	R	987;987;897	ENSP00000356646:L987R;ENSP00000263525:L987R	ENSP00000263525:L987R	L	-	2	0	TNR	173595385	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	8.606000	0.90888	2.159000	0.67721	0.533000	0.62120	CTT		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		10	380	0	0	0	1	0	10	380					C	175328762	A	C	175328762	3	2	79	1	0	0	0	0	1	0	0	0	16390	72	3	4	1152	4	TNR	1	175328762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23884	175328762	73921859	1457	11774											
TNR	7143	broad.mit.edu	37	chr1	175331945	175331945	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgtctagtcgtcccActggagaagagaagaatcta	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7. {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.V903G(2)		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)					TAGTCGTCCCACTGGAGAAGA	0.488																																						ENST00000367674.1																			2	Substitution - Missense(2)	p.V903G(2)	lung(2)	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						c.e14-1		tenascin R							158	148	151					1																	175331945		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331945A>C	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.2708-1T>G	1.37:g.175331945A>C						TNR_ENST00000263525.2_Splice_Site_p.V903_splice	p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			14	3416	-	Renal(580;0.146)		903			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37	c.2707_splice	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818804	0.16607	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50001	0.76;0.76	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.16171	0.0389	N	0.01197	-0.965	0.58432	D	0.999991	P	0.34462	0.454	B	0.34931	0.192	T	0.35724	-0.9777	10	0.05721	T	0.95	.	7.4796	0.27398	0.8761:0.0:0.1239:0.0	.	903	Q92752	TENR_HUMAN	G	903;903;813	ENSP00000356646:V903G;ENSP00000263525:V903G	ENSP00000263525:V903G	V	-	2	0	TNR	173598568	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.967000	0.56802	2.205000	0.71048	0.528000	0.53228	GTG		0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Missense_Mutation	11	532	0	0	0	1	0	11	532					C	175331945	A	C	175331945	5	2	79	1	0	0	0	0	0	0	1	0	16390	173	6	4	1408	4	TNR	1	175331945	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3183	175331945	73918676	1458	11775											
TNR	7143	broad.mit.edu	37	chr1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgggtgggtcgatatgAtactcggtagtaatcgaaag	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R	897	Fibronectin type-III 7. {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)				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)					GGTCGATATGATACTCGGTAG	0.438																																						ENST00000367674.1																			0				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						c.(2689-2691)Tca>Gca		tenascin R							171	154	160					1																	175332862		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175332862A>C	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.2689T>G	1.37:g.175332862A>C	ENSP00000356646:p.Ser897Ala					TNR_ENST00000263525.2_Missense_Mutation_p.S897A	p.S897A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			13	3397	-	Renal(580;0.146)		897			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2689T>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581674	0.46006	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.65677	2.01	0.52099	D	0.999948	B	0.06786	0.001	B	0.13407	0.009	T	0.41698	-0.9494	10	0.16420	T	0.52	.	10.905	0.47076	0.8432:0.1568:0.0:0.0	.	897	Q92752	TENR_HUMAN	A	897;897;807	ENSP00000356646:S897A;ENSP00000263525:S897A	ENSP00000263525:S897A	S	-	1	0	TNR	173599485	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.220000	0.72237	2.209000	0.71365	0.533000	0.62120	TCA		0.438	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		65	326	0	0	0	1	0	65	326					C	175332862	A	C	175332862	3	2	79	1	0	0	0	0	1	0	0	0	16390	333	12	4	1431	4	TNR	1	175332862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	917	175332862	73917759	1459	11776											
TNR	7143	broad.mit.edu	37	chr1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggaaatgatgtactctgCcccaggctctagatctgtta	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R	748	Fibronectin type-III 5. {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)				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)					ATGTACTCTGCCCCAGGCTCT	0.537																																						ENST00000367674.1																			0				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						c.(2242-2244)Gca>Aca		tenascin R							166	153	157					1																	175335086		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335086C>T	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.2242G>A	1.37:g.175335086C>T	ENSP00000356646:p.Ala748Thr					TNR_ENST00000263525.2_Missense_Mutation_p.A748T	p.A748T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			11	2950	-	Renal(580;0.146)		748			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2242G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731404	0.15507	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49139	0.79;0.79	5.95	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054165	0.64402	D	0.000001	T	0.09686	0.0238	N	0.00202	-1.86	0.36312	D	0.857685	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	4.424	0.11495	0.0:0.5736:0.0:0.4264	.	748	Q92752	TENR_HUMAN	T	748	ENSP00000356646:A748T;ENSP00000263525:A748T	ENSP00000263525:A748T	A	-	1	0	TNR	173601709	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.815000	0.55651	1.514000	0.48869	0.650000	0.86243	GCA		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		129	359	0	0	0	1	0	129	359					T	175335086	C	T	175335086	3	4	79	1	0	0	0	0	1	0	0	0	16390	739	26	2	1886	2	TNR	1	175335086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	175335086	73915535	1460	11777											
TNR	7143	broad.mit.edu	37	chr1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccactcgcaagtcctctgGaggggcaactaccgggaggc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1. {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)				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)					AAGTCCTCTGGAGGGGCAACT	0.557																																						ENST00000367674.1																			0				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						c.(985-987)Cca>Aca		tenascin R							74	77	76					1																	175365935		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365935G>T	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.985C>A	1.37:g.175365935G>T	ENSP00000356646:p.Pro329Thr					TNR_ENST00000263525.2_Missense_Mutation_p.P329T	p.P329T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1693	-	Renal(580;0.146)		329			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.985C>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291601|4.291601	0.80914|0.80914	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.79845|.	-1.31;-1.31|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.060171|.	0.64402|.	D|.	0.000003|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	D|.	0.65573|.	0.936|.	D|D	0.85106|0.85106	0.0960|0.0960	10|5	0.72032|.	D|.	0.01|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q92752|.	TENR_HUMAN|.	T|Y	329|53	ENSP00000356646:P329T;ENSP00000263525:P329T|.	ENSP00000263525:P329T|.	P|S	-|-	1|2	0|0	TNR|TNR	173632558|173632558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.286000|3.286000	0.51724|0.51724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		89	545	1	0	1.41191e-52	1	1.75639e-52	89	545					T	175365935	G	T	175365935	3	4	79	1	0	0	0	0	1	0	0	0	16390	1174	41	3	3167	3	TNR	1	175365935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30849	175365935	73884686	1461	11778											
TNR	7143	broad.mit.edu	37	chr1	175375803	175375803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaggatcaggttgatGccaatgagcatgttcttcag	11	9	3	3	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R	16					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)				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)					TCAGGTTGATGCCAATGAGCA	0.557													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0					ENST00000367674.1																			0				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						c.(46-48)ggC>ggT		tenascin R		G		3,4403	6.2+/-15.9	0,3,2200	174	154	161		48	-11.1	0.5	1	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TNR	NM_003285.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		16/1359	175375803	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375803G>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.48C>T	1.37:g.175375803G>A						TNR_ENST00000263525.2_Silent_p.G16G	p.G16G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	756	-	Renal(580;0.146)		16					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.48C>T	CCDS1318.1																																																																																				0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		59	641	0	0	0	1	0	59	641					A	175375803	G	A	175375803	2	1	79	1	0	0	0	0	0	0	0	1	16390	1306	46	2		2	TNR	1	175375803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9868	175375803	73874818	1462	11779											
RFWD2	64326	broad.mit.edu	37	chr1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgcttcctgctgccgCtgcctaggctggagctgctg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	108	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCTGCCGCTGCCTAGGCT	0.677																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(322-324)aGc>aAc		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							24	23	24					1																	176175792		2170	4252	6422	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176175792C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.323G>A	1.37:g.176175792C>T	ENSP00000356641:p.Ser108Asn					RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			1	837	-			108			Ser-rich.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.323G>A	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751596	0.69533	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.59638	0.37;0.25	3.76	3.76	0.43208	.	0.391206	0.27433	N	0.019395	T	0.45236	0.1332	N	0.24115	0.695	0.53005	D	0.999965	B;B	0.30889	0.299;0.198	B;B	0.32864	0.154;0.074	T	0.50083	-0.8869	10	0.46703	T	0.11	-4.3193	14.8775	0.70504	0.0:1.0:0.0:0.0	.	108;108	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	N	108	ENSP00000356641:S108N;ENSP00000310943:S108N	ENSP00000310943:S108N	S	-	2	0	RFWD2	174442415	0.997000	0.39634	0.963000	0.40424	0.796000	0.44982	3.980000	0.56895	2.076000	0.62316	0.455000	0.32223	AGC		0.677	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		13	273	0	0	0	1	0	13	273					T	176175792	C	T	176175792	3	4	79	1	0	0	0	0	1	0	0	0	13310	797	28	2	1952	2	RFWD2	1	176175792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799989	176175792	73074829	1463	11780											
PAPPA2	60676	broad.mit.edu	37	chr1	176526268	176526268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttctctgggaggcgggaGcggctgctgctgcgtccaga	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	270					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGGCGGGAGCGGCTGCTGC	0.572																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(808-810)gaG>gaA		pappalysin 2							40	40	40					1																	176526268		1924	4144	6068	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526268G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.810G>A	1.37:g.176526268G>A						PAPPA2_ENST00000367661.3_Silent_p.E270E	p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1974	+			270					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.810G>A	CCDS41438.1																																																																																				0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			64	201	0	0	0	1	0	64	201					A	176526268	G	A	176526268	2	1	79	1	0	0	0	0	0	0	0	1	11475	962	34	2		2	PAPPA2	1	176526268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350476	176526268	72724353	1464	11781											
PAPPA2	60676	broad.mit.edu	37	chr1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacatgttcttctgggCactgggaccagaatgtgagc	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1452	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTTCTGGGCACTGGGACCA	0.473																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4354-4356)Cac>Tac		pappalysin 2							124	115	118					1																	176738773		1905	4122	6027	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738773C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4354C>T	1.37:g.176738773C>T	ENSP00000356634:p.His1452Tyr						p.H1452Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5518	+			1452			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4354C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295248	0.40594	.	.	ENSG00000116183	ENST00000367662	T	0.76060	-0.99	6.17	2.18	0.27775	Sushi/SCR/CCP (1);	0.567281	0.20649	N	0.088252	T	0.67887	0.2941	L	0.60455	1.87	0.09310	N	0.999998	B	0.30542	0.284	B	0.33339	0.162	T	0.58891	-0.7556	10	0.44086	T	0.13	-8.2663	8.212	0.31488	0.0:0.6964:0.113:0.1906	.	1452	Q9BXP8	PAPP2_HUMAN	Y	1452	ENSP00000356634:H1452Y	ENSP00000356634:H1452Y	H	+	1	0	PAPPA2	175005396	0.000000	0.05858	0.983000	0.44433	0.960000	0.62799	0.126000	0.15769	0.468000	0.27243	0.655000	0.94253	CAC		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			45	443	0	0	0	1	0	45	443					T	176738773	C	T	176738773	3	4	79	1	0	0	0	0	1	0	0	0	11475	710	25	2	4465	2	PAPPA2	1	176738773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212505	176738773	72511848	1465	11782											
PAPPA2	60676	broad.mit.edu	37	chr1	176760572	176760572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcccaccacccccctcAgagctgaattctgtggagta	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1658	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCCTCAGAGCTGAATT	0.433																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4972-4974)tcA>tcG		pappalysin 2							85	84	85					1																	176760572		1896	4105	6001	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760572A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4974A>G	1.37:g.176760572A>G							p.S1658S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			19	6138	+			1658			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4974A>G	CCDS41438.1																																																																																				0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			72	309	0	0	0	1	0	72	309					G	176760572	A	G	176760572	2	3	79	1	0	0	0	0	0	0	0	1	11475	175	7	4		4	PAPPA2	1	176760572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21799	176760572	72490049	1466	11783											
PAPPA2	60676	broad.mit.edu	37	chr1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgtgcactggccggcGtcaatggcacccagaccccg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.R1718H(1)	large_intestine(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5152-5154)cGt>cAt		pappalysin 2							133	129	131					1																	176769219		1935	4140	6075	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769219G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5153G>A	1.37:g.176769219G>A	ENSP00000356634:p.Arg1718His						p.R1718H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			21	6317	+			1718			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5153G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	PAPPA2	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	570	0	0	0	1	0	23	570					A	176769219	G	A	176769219	3	1	79	1	0	0	0	0	1	0	0	0	11475	1145	40	1	5284	1	PAPPA2	1	176769219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8647	176769219	72481402	1467	11784											
ASTN1	460	broad.mit.edu	37	chr1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtccctgagcaccagaGagagctcatggtagcctcct	10	14	1	3	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.3	-	18	3203	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	998					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2992-2994)Ctc>Atc		astrotactin 1							100	87	92					1																	176857313		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857313G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2992C>A	1.37:g.176857313G>T	ENSP00000356626:p.Leu998Ile					ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I	p.L998I			O14525	ASTN1_HUMAN			18	3005	-			998					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2992C>A		.	.	.	.	.	.	.	.	.	.	G	15.82	2.947532	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.82	5.82	0.92795	.	0.063133	0.64402	D	0.000005	T	0.25717	0.0626	N	0.17082	0.46	0.54753	D	0.999981	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.03374	-1.1043	10	0.45353	T	0.12	-25.1042	14.515	0.67814	0.0:0.0:0.8532:0.1468	.	990;990	O14525-2;B1AJS1	.;.	I	990;990;998;990;990	ENSP00000356629:L990I;ENSP00000354536:L990I;ENSP00000356626:L998I;ENSP00000395041:L990I	ENSP00000354536:L990I	L	-	1	0	ASTN1	175123936	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.348000	0.59379	2.744000	0.94065	0.585000	0.79938	CTC		0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		47	245	1	0	2.64894e-19	1	2.95328e-19	47	245					T	176857313	G	T	176857313	3	4	79	1	0	0	0	0	1	0	0	0	1065	942	33	3	944	3	ASTN1	1	176857313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88094	176857313	72393308	1468	11785											
ASTN1	460	broad.mit.edu	37	chr1	176863860	176863860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccatgcggactccagcCgccatgtgcttggtgccgga	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.3	-	17	3013	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	934					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2800-2802)gcG>gcA		astrotactin 1							99	97	98					1																	176863860		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863860C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2802G>A	1.37:g.176863860C>T						ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A	p.A934A			O14525	ASTN1_HUMAN			17	2815	-			934					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2802G>A																																																																																					0.607	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		179	574	0	0	0	1	0	179	574					T	176863860	C	T	176863860	2	4	79	1	0	0	0	0	0	0	0	1	1065	639	23	1		1	ASTN1	1	176863860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	176863860	72386761	1469	11786											
ASTN1	460	broad.mit.edu	37	chr1	176915202	176915202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctctggacaggtctcCgtgatgagttggcaagagcg	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.3	-	13	2344	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	711					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2131-2133)acG>acA		astrotactin 1							111	99	103					1																	176915202		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915202C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2133G>A	1.37:g.176915202C>T						ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T	p.T711T			O14525	ASTN1_HUMAN			13	2146	-			711					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2133G>A																																																																																					0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		89	443	0	0	0	1	0	89	443					T	176915202	C	T	176915202	2	4	79	1	0	0	0	0	0	0	0	1	1065	639	23	1		1	ASTN1	1	176915202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51342	176915202	72335419	1470	11787											
ASTN1	460	broad.mit.edu	37	chr1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggcacagaggtccatgGcccagggtccgctggagttc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.3	-	7	1587	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	459	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1375-1377)gCc>gTc		astrotactin 1							34	31	32					1																	176992602		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992602G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1376C>T	1.37:g.176992602G>A	ENSP00000356626:p.Ala459Val					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V	p.A459V			O14525	ASTN1_HUMAN			7	1389	-			459			EGF-like 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	9.922	1.212440	0.22289	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.12569	2.67;3.09;3.09;2.67	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000005	T	0.06508	0.0167	N	0.02916	-0.46	0.53005	D	0.999964	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.23440	-1.0188	10	0.02654	T	1	-30.7684	19.8914	0.96931	0.0:0.0:1.0:0.0	.	459;459;459	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	459	ENSP00000356629:A459V;ENSP00000354536:A459V;ENSP00000356626:A459V;ENSP00000395041:A459V	ENSP00000354536:A459V	A	-	2	0	ASTN1	175259225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.813000	0.96785	0.655000	0.94253	GCC		0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		28	73	0	0	0	1	0	28	73					A	176992602	G	A	176992602	3	1	79	1	0	0	0	0	1	0	0	0	1065	1203	42	2	2580	2	ASTN1	1	176992602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77400	176992602	72258019	1471	11788											
ASTN1	460	broad.mit.edu	37	chr1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccatggcccagggtccgCtggagttctgctgagagaag	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.3	-	7	1575	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	455					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1363-1365)aGc>aAc		astrotactin 1							37	34	35					1																	176992614		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992614C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1364G>A	1.37:g.176992614C>T	ENSP00000356626:p.Ser455Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N	p.S455N			O14525	ASTN1_HUMAN			7	1377	-			455					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1364G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.509064	0.85282	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.53;2.53;2.12	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.29908	0.895	0.58432	D	0.999993	B;B;B	0.25667	0.131;0.05;0.05	B;B;B	0.24701	0.055;0.032;0.032	T	0.02539	-1.1144	10	0.66056	D	0.02	-19.3059	19.8914	0.96931	0.0:1.0:0.0:0.0	.	455;455;455	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	455	ENSP00000356629:S455N;ENSP00000354536:S455N;ENSP00000356626:S455N;ENSP00000395041:S455N	ENSP00000354536:S455N	S	-	2	0	ASTN1	175259237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.813000	0.96785	0.655000	0.94253	AGC		0.647	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		34	75	0	0	0	1	0	34	75					T	176992614	C	T	176992614	3	4	79	1	0	0	0	0	1	0	0	0	1065	797	28	2	2592	2	ASTN1	1	176992614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	176992614	72258007	1472	11789											
ASTN1	460	broad.mit.edu	37	chr1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagcaagatgaagcggCtccctgcagggtgagagaaa	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	425					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1273-1275)aGc>aAc		astrotactin 1							39	37	37					1																	176992704		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992704C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1274G>A	1.37:g.176992704C>T	ENSP00000356626:p.Ser425Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N	p.S425N			O14525	ASTN1_HUMAN			7	1287	-			425					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	ASTN1	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC		0.557	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		16	123	0	0	0	1	0	16	123					T	176992704	C	T	176992704	3	4	79	1	0	0	0	0	1	0	0	0	1065	797	28	2	2682	2	ASTN1	1	176992704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	176992704	72257917	1473	11790											
ASTN1	460	broad.mit.edu	37	chr1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgacagcttggcattgtCacttcctgtataaggaaaag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.3	-	4	1082	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	291					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(871-873)Gac>Aac		astrotactin 1							102	103	103					1																	177000083		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177000083C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.871G>A	1.37:g.177000083C>T	ENSP00000356626:p.Asp291Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N	p.D291N			O14525	ASTN1_HUMAN			4	884	-			291					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.871G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.341740	0.95783	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.74;2.75;2.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.81914	0.995;0.987;0.987	T	0.03773	-1.1005	10	0.66056	D	0.02	-36.3384	19.5808	0.95467	0.0:1.0:0.0:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	291	ENSP00000356629:D291N;ENSP00000354536:D291N;ENSP00000356626:D291N;ENSP00000395041:D291N	ENSP00000354536:D291N	D	-	1	0	ASTN1	175266706	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.348000	0.79366	2.706000	0.92434	0.655000	0.94253	GAC		0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		70	240	0	0	0	1	0	70	240					T	177000083	C	T	177000083	3	4	79	1	0	0	0	0	1	0	0	0	1065	826	29	2	3097	2	ASTN1	1	177000083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7379	177000083	72250538	1474	11791											
ASTN1	460	broad.mit.edu	37	chr1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttgtccaggaaggcTtggggcaccatcttggtgat	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.3	-	2	599	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	130					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(388-390)Agc>Cgc		astrotactin 1							254	238	244					1																	177030297		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030297T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.388A>C	1.37:g.177030297T>G	ENSP00000356626:p.Ser130Arg					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R	p.S130R			O14525	ASTN1_HUMAN			2	401	-			130					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.388A>C		.	.	.	.	.	.	.	.	.	.	T	16.00	2.998800	0.54147	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	6.06	6.06	0.98353	.	0.133095	0.64402	D	0.000003	T	0.14356	0.0347	L	0.36672	1.1	0.41103	D	0.985688	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15870	0.014;0.014;0.014	T	0.02471	-1.1154	10	0.49607	T	0.09	-23.7253	16.2708	0.82618	0.0:0.0:0.0:1.0	.	130;130;130	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	130	ENSP00000356629:S130R;ENSP00000354536:S130R;ENSP00000356626:S130R;ENSP00000395041:S130R	ENSP00000354536:S130R	S	-	1	0	ASTN1	175296920	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	6.017000	0.70805	2.324000	0.78689	0.533000	0.62120	AGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		261	799	0	0	0	1	0	261	799					G	177030297	T	G	177030297	3	3	79	1	0	0	0	0	1	0	0	0	1065	1609	56	4	3588	4	ASTN1	1	177030297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30214	177030297	72220324	1475	11792											
ASTN1	460	broad.mit.edu	37	chr1	177133624	177133624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagaagaggagcttgggCtccgaggccgaggggctgtg	19	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.3	-	1	400	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	63					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(187-189)gaG>gaA		astrotactin 1							69	57	61					1																	177133624		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133624C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.189G>A	1.37:g.177133624C>T						ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E	p.E63E			O14525	ASTN1_HUMAN			1	202	-			63					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.189G>A																																																																																					0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		60	184	0	0	0	1	0	60	184					T	177133624	C	T	177133624	2	4	79	1	0	0	0	0	0	0	0	1	1065	796	28	2		2	ASTN1	1	177133624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103327	177133624	72116997	1476	11793											
FAM5B	57795	broad.mit.edu	37	chr1	177247923	177247923	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctgcccaaggagaggTgagcaccccctggctgctac	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177247923T>C	ENST00000361539.4	+	7	1547		c.e7+2		BRINP2_ENST00000478325.1_Splice_Site	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAAGGAGAGGTGAGCACCCCC	0.607																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.e7+2									34	35	35					1																	177247923		2203	4300	6503	SO:0001630	splice_region_variant	0					extracellular region		g.chr1:177247923T>C		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1235+2T>C	1.37:g.177247923T>C						FAM5B_ENST00000478325.1_Splice_Site		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1547	+								O95560|Q6ZWC1|Q7LCZ9|Q8N360	Splice_Site	SNP	ENST00000361539.4	37		CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460510	0.84317	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8821	0.70542	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM5B	175514546	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.888000	0.87302	2.000000	0.58554	0.533000	0.62120	.		0.607	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	Intron	20	341	0	0	0	1	0	20	341					C	177247923	T	C	177247923	5	2	79	1	0	0	0	0	0	0	1	0	5618	1710	59	4	1259	4	FAM5B	1	177247923	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114299	177247923	72002698	1477	11794											
SEC16B	89866	broad.mit.edu	37	chr1	177913771	177913771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccgtcctctggattgcCtcagttgttgcaaatttcaa	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	602					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)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1804-1806)gaG>gaA		SEC16 homolog B (S. cerevisiae)							137	141	140					1																	177913771		1900	4118	6018	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913771C>T	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.1806G>A	1.37:g.177913771C>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.E602E	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			15	1895	-			602					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1806G>A	CCDS44281.1																																																																																				0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		165	584	0	0	0	1	0	165	584					T	177913771	C	T	177913771	2	4	79	1	0	0	0	0	0	0	0	1	14037	680	24	2		2	SEC16B	1	177913771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	665848	177913771	71336850	1478	11795											
SEC16B	89866	broad.mit.edu	37	chr1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgctggagctgagaccaGactcacgctgctggagaagg	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	229					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)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(685-687)tCt>tTt		SEC16 homolog B (S. cerevisiae)							48	50	49					1																	177930826		1971	4160	6131	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930826G>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.686C>T	1.37:g.177930826G>A	ENSP00000308339:p.Ser229Phe					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S229F|SEC16B_ENST00000464631.1_Missense_Mutation_p.S229F	p.S229F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			6	775	-			229					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.686C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297096	0.81025	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.50813	2.31;0.73	5.79	5.79	0.91817	.	0.086330	0.51477	D	0.000092	T	0.59595	0.2205	M	0.66939	2.045	0.49687	D	0.999813	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.55923	0.787;0.771;0.771	T	0.52866	-0.8518	10	0.11485	T	0.65	-13.7531	17.8165	0.88635	0.0:0.0:1.0:0.0	.	229;229;229	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	F	229	ENSP00000308339:S229F;ENSP00000431727:S229F	ENSP00000308339:S229F	S	-	2	0	AL359075.1	176197449	1.000000	0.71417	0.985000	0.45067	0.640000	0.38277	4.685000	0.61693	2.731000	0.93534	0.650000	0.86243	TCT		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		33	171	0	0	0	1	0	33	171					A	177930826	G	A	177930826	3	1	79	1	0	0	0	0	1	0	0	0	14037	942	33	2	2580	2	SEC16B	1	177930826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17055	177930826	71319795	1479	11796											
RASAL2	9462	broad.mit.edu	37	chr1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttggtagaggggaacCtgtatcagtgaaaccacttc	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(718-720)cCt>cAt		RAS protein activator like 2							143	130	135					1																	178408655		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178408655C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.329C>A	1.37:g.178408655C>A	ENSP00000420558:p.Pro110His					RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H	p.P240H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			6	1537	+			110			C2.|Poly-Lys.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.719C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	RASAL2	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		43	362	1	0	2.29192e-23	1	2.60423e-23	43	362					A	178408655	C	A	178408655	3	1	79	1	0	0	0	0	1	0	0	0	13114	681	24	3	812	3	RASAL2	1	178408655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477829	178408655	70841966	1480	11797											
RASAL2	9462	broad.mit.edu	37	chr1	178425861	178425861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccttcctacaggcgacCgtggcaaaattggggcctct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000462775.1	+	11	1919	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	RASAL2_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000448150.3_Silent_p.T728T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	598					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2182-2184)acC>acT		RAS protein activator like 2							217	229	225					1																	178425861		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425861C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1794C>T	1.37:g.178425861C>T						RASAL2_ENST00000462775.1_Silent_p.T598T|RASAL2_ENST00000367649.3_Silent_p.T739T	p.T728T	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			13	3002	+			598					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2184C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138821	0.09083	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	0.19	0.15125	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	3.425	0.07408	0.1192:0.5236:0.1172:0.24	.	.	.	.	C	149	.	.	R	+	1	0	RASAL2	176692484	0.808000	0.29022	0.992000	0.48379	0.931000	0.56810	-0.119000	0.10676	0.117000	0.18138	-0.136000	0.14681	CGT		0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		115	1547	0	0	0	1	0	115	1547					T	178425861	C	T	178425861	2	4	79	1	0	0	0	0	0	0	0	1	13114	639	23	1		1	RASAL2	1	178425861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17206	178425861	70824760	1481	11798											
RASAL2	9462	broad.mit.edu	37	chr1	178427268	178427268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagattccagtttggagaaCctaagcactgccagttccag	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000462775.1	+	12	2543	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	RASAL2_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000448150.3_Silent_p.N936N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	806					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2806-2808)aaC>aaT		RAS protein activator like 2							83	84	84					1																	178427268		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427268C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2418C>T	1.37:g.178427268C>T						RASAL2_ENST00000462775.1_Silent_p.N806N|RASAL2_ENST00000367649.3_Silent_p.N947N	p.N936N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	3626	+			806					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2808C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134370	0.09032	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56456	-0.7976	4	.	.	.	.	8.6916	0.34271	0.0:0.7721:0.0:0.2279	.	.	.	.	S	357	.	.	P	+	1	0	RASAL2	176693891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	1.235000	0.43724	0.655000	0.94253	CCT		0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		109	351	0	0	0	1	0	109	351					T	178427268	C	T	178427268	2	4	79	1	0	0	0	0	0	0	0	1	13114	506	18	2		2	RASAL2	1	178427268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407	178427268	70823353	1482	11799											
RASAL2	9462	broad.mit.edu	37	chr1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgacccaagtgaaggagCggtacagcatgcaggtccgc	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537																																						ENST00000448150.3																			3	Substitution - Missense(3)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)	lung(3)	biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3715-3717)Cgg>Tgg		RAS protein activator like 2							180	152	161					1																	178442279		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178442279C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3325C>T	1.37:g.178442279C>T	ENSP00000420558:p.Arg1109Trp					RASAL2_ENST00000462775.1_Missense_Mutation_p.R1109W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W	p.R1239W	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			18	4533	+			1109					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3715C>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	RASAL2|RASAL2	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		81	432	0	0	0	1	0	81	432					T	178442279	C	T	178442279	3	4	79	1	0	0	0	0	1	0	0	0	13114	759	27	1	3856	1	RASAL2	1	178442279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15011	178442279	70808342	1483	11800											
RASAL2	9462	broad.mit.edu	37	chr1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccaaccccaccaagcTttccatcacggagaatggtg	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000462775.1	+	16	3502	c.3377T>G	c.(3376-3378)cTt>cGt	p.L1126R	RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1126					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3766-3768)cTt>cGt		RAS protein activator like 2							165	138	147					1																	178442331		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178442331T>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3377T>G	1.37:g.178442331T>G	ENSP00000420558:p.Leu1126Arg					RASAL2_ENST00000462775.1_Missense_Mutation_p.L1126R|RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R	p.L1256R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			18	4585	+			1126					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3767T>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.719691|3.719691	0.68844|0.68844	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.26660	.|1.72;1.72;1.73	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.62723|0.62723	1.935|1.935	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	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.46703	.|T	.|0.11	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1126;1267	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|R	687|1256;1267;1126	.|ENSP00000407768:L1256R;ENSP00000356621:L1267R;ENSP00000420558:L1126R	.|ENSP00000356621:L1267R	F|L	+|+	1|2	0|0	RASAL2|RASAL2	176708954|176708954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.170000|2.170000	0.68504|0.68504	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		112	316	0	0	0	1	0	112	316					G	178442331	T	G	178442331	3	3	79	1	0	0	0	0	1	0	0	0	13114	1609	56	4	3908	4	RASAL2	1	178442331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52	178442331	70808290	1484	11801											
C1orf49	84066	broad.mit.edu	37	chr1	178489945	178489945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctcttcacaagaagaCgatggcaccacaaaaaacaa	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178489945C>T	ENST00000319416.2	+	7	591	c.479C>T	c.(478-480)aCg>aTg	p.T160M	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.T168M|TEX35_ENST00000367641.3_Missense_Mutation_p.T160M|TEX35_ENST00000258298.2_Missense_Mutation_p.T84M|TEX35_ENST00000367643.3_Missense_Mutation_p.T160M	NM_032126.4	NP_115502.2			testis expressed 35																		CACAAGAAGACGATGGCACCA	0.547																																						ENST00000367641.3																			0											c.(478-480)aCg>aTg		testis expressed 35							82	80	81					1																	178489945		2203	4300	6503	SO:0001583	missense	84066							g.chr1:178489945C>T	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 24kDa"		"chromosome 1 open reading frame 49"	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.479C>T	1.37:g.178489945C>T	ENSP00000323795:p.Thr160Met					TEX35_ENST00000367643.3_Missense_Mutation_p.T160M|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.T168M|TEX35_ENST00000258298.2_Missense_Mutation_p.T84M|TEX35_ENST00000319416.2_Missense_Mutation_p.T160M	p.T160M							7	538	+									Missense_Mutation	SNP	ENST00000319416.2	37	c.479C>T	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563165	0.13498	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.09	-8.18	0.01053	.	2.124760	0.01894	N	0.038781	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20887	0.049;0.049;0.049	B;B;B	0.11329	0.006;0.006;0.006	T	0.19549	-1.0302	10	0.25106	T	0.35	0.302	1.0225	0.01521	0.3358:0.132:0.1119:0.4203	.	168;160;160	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	M	160;84;160;160;168	ENSP00000323795:T160M;ENSP00000258298:T84M;ENSP00000356615:T160M;ENSP00000356613:T160M;ENSP00000356611:T168M	ENSP00000258298:T84M	T	+	2	0	C1orf49	176756568	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.723000	0.01866	-1.638000	0.01529	0.536000	0.68110	ACG		0.547	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		51	207	0	0	0	1	0	51	207					T	178489945	C	T	178489945	3	4	79	1	0	0	0	0	1	0	0	0	2048	536	19	1	529	1	C1orf49	1	178489945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47614	178489945	70760676	1485	11802											
RALGPS2	55103	broad.mit.edu	37	chr1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaggtagcagcgatggttCtgaactaagtgaagagacct	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	403					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCGATGGTTCTGAACTAAGT	0.303																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1207-1209)tCt>tAt		Ral GEF with PH domain and SH3 binding motif 2							128	139	135					1																	178858792		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178858792C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1208C>A	1.37:g.178858792C>A	ENSP00000356607:p.Ser403Tyr					RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S368Y|RALGPS2_ENST00000477383.1_3'UTR	p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			14	1546	+			403					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1208C>A	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428166|4.428166	0.83667|0.83667	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.28454	.|1.73;1.79;1.61	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.72982	.|0.898;0.979	T|T	0.56866|0.56866	-0.7908|-0.7908	5|10	.|0.62326	.|D	.|0.03	.|.	18.8902|18.8902	0.92397|0.92397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;403	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	M|Y	20|403;403;368;52	.|ENSP00000356607:S403Y;ENSP00000356606:S403Y;ENSP00000313613:S368Y	.|ENSP00000313613:S368Y	L|S	+|+	1|2	2|0	RALGPS2|RALGPS2	177125415|177125415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.479000|7.479000	0.81095|0.81095	2.558000|2.558000	0.86282|0.86282	0.460000|0.460000	0.39030|0.39030	CTG|TCT		0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		147	456	1	0	6.34984e-79	1	8.11231e-79	147	456					A	178858792	C	A	178858792	3	1	79	1	0	0	0	0	1	0	0	0	13068	913	32	3	1258	3	RALGPS2	1	178858792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368847	178858792	70391829	1486	11803											
RALGPS2	55103	broad.mit.edu	37	chr1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatggatggtgatgatggCtgatgaccctgaacatcctg	14	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGATGATGGCTGATGACCCT	0.393																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1579-1581)gCt>gAt		Ral GEF with PH domain and SH3 binding motif 2							225	196	206					1																	178871296		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178871296C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1580C>A	1.37:g.178871296C>A	ENSP00000356607:p.Ala527Asp					RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A492D	p.A527D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			18	1918	+			527			PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1580C>A	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642959|4.642959	0.87859|0.87859	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;P|.	0.43352|.	0.08;0.804|.	B;B|.	0.44315|.	0.017;0.446|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.36615|.	T|.	0.2|.	.|.	19.4161|19.4161	0.94700|0.94700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501;527|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	D|M	527;501;492;176|118	ENSP00000356607:A527D;ENSP00000356606:A501D;ENSP00000313613:A492D|.	ENSP00000313613:A492D|.	A|L	+|+	2|1	0|2	RALGPS2|RALGPS2	177137919|177137919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.393	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		69	347	1	0	4.37588e-27	1	5.05892e-27	69	347					A	178871296	C	A	178871296	3	1	79	1	0	0	0	0	1	0	0	0	13068	797	28	3	1646	3	RALGPS2	1	178871296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12504	178871296	70379325	1487	11804											
FAM20B	9917	broad.mit.edu	37	chr1	179033100	179033100	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaagtgctattactgcCgagaaacagaaccagcttgt	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	ENST00000263733.4	+	5	949	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	205						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTATTACTGCCGAGAAACAGA	0.458																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(613-615)Cga>Tga		family with sequence similarity 20, member B							144	132	136					1																	179033100		2203	4300	6503	SO:0001587	stop_gained	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033100C>T	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.613C>T	1.37:g.179033100C>T	ENSP00000263733:p.Arg205*						p.R205*	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			5	949	+			205					Q5W0C3|Q5W0C4	Nonsense_Mutation	SNP	ENST00000263733.4	37	c.613C>T	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452622	0.98292	.	.	ENSG00000116199	ENST00000263733	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-28.6331	15.266	0.73663	0.1414:0.8586:0.0:0.0	.	.	.	.	X	205	.	ENSP00000263733:R205X	R	+	1	2	FAM20B	177299723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.628000	0.54259	1.203000	0.43233	-0.182000	0.12963	CGA		0.458	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		18	668	0	0	0	1	0	18	668					T	179033100	C	T	179033100	4	4	79	1	0	0	0	0	0	1	0	0	5559	644	23	1	627	1	FAM20B	1	179033100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161804	179033100	70217521	1488	11805											
ABL2	27	broad.mit.edu	37	chr1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctggaagccctgaggAcatggaagatgtagagtttg	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_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	788	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)	AGCCCTGAGGACATGGAAGAT	0.507			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				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						c.(2362-2364)Tcc>Acc		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						135	125	128					1																	179078040		2203	4300	6503	SO:0001583	missense	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.chr1:179078040A>T	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.2362T>A	1.37:g.179078040A>T	ENSP00000427562:p.Ser788Thr					ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	p.S788T	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			12	2565	-			788			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2362T>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473385	0.43942	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.79	5.79	0.91817	.	0.000000	0.46145	D	0.000319	T	0.13030	0.0316	L	0.27053	0.805	0.53688	D	0.999976	P;P;P;B	0.49559	0.925;0.653;0.925;0.397	P;B;P;B	0.47162	0.54;0.328;0.54;0.155	T	0.01352	-1.1377	10	0.72032	D	0.01	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	767;788;773;752	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	T	788;752;773;767	ENSP00000427562:S788T;ENSP00000386152:S752T;ENSP00000423578:S773T;ENSP00000356595:S767T	ENSP00000356595:S767T	S	-	1	0	ABL2	177344663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.207000	0.71202	0.533000	0.62120	TCC		0.507	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		157	476	0	0	0	1	0	157	476					T	179078040	A	T	179078040	3	4	79	1	0	0	0	0	1	0	0	0	93	275	10	5	1190	5	ABL2	1	179078040	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44940	179078040	70172581	1489	11806											
ABL2	27	broad.mit.edu	37	chr1	179112077	179112077	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaaccatacctgttaagtCgggtagagcagattctgagg	12	8	1	4	rs376770494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179112077C>T	ENST00000502732.1	-	2	361				ABL2_ENST00000392043.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.D35N|ABL2_ENST00000507173.1_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						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)	CCTGTTAAGTCGGGTAGAGCA	0.433			T	ETV6	AML								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0					ENST00000408940.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				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						c.(103-105)Gac>Aac		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	C	ASN/ASP,,,,,ASN/ASP,ASN/ASP,	4,3836		0,4,1916	94	92	93		103,,,,,103,103,	-6.4	0	1		93	0,8258		0,0,4129	no	missense,intron,intron,intron,intron,missense,missense,intron	ABL2	NM_001136000.2,NM_001136001.1,NM_001168236.1,NM_001168237.1,NM_001168238.1,NM_001168239.1,NM_005158.4,NM_007314.3	23,,,,,23,23,	0,4,6045	TT,TC,CC		0.0,0.1042,0.0331	benign,,,,,benign,benign,	35/1065,,,,,35/1044,35/1168,	179112077	4,12094	1920	4129	6049	SO:0001627	intron_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.chr1:179112077C>T	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.158-9568G>A	1.37:g.179112077C>T						ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	p.D35N	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN			1	102	-			0			CAP.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.103G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.854590	0.00558	0.001042	0.0	ENSG00000143322	ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405	T;T;T;T	0.73897	-0.75;-0.79;-0.77;-0.75	5.34	-6.4	0.01944	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001	T	0.40997	-0.9533	8	0.14252	T	0.57	.	10.5645	0.45165	0.0:0.1763:0.1081:0.7155	.	35;35;35;35;35;35	P42684-4;P42684-9;P42684-2;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.	N	35	ENSP00000386152:D35N;ENSP00000339209:D35N;ENSP00000423578:D35N;ENSP00000426831:D35N	ENSP00000339209:D35N	D	-	1	0	ABL2	177378700	0.021000	0.18746	0.000000	0.03702	0.038000	0.13279	-0.714000	0.05002	-1.094000	0.03054	-0.812000	0.03155	GAC		0.433	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		33	168	0	0	0	1	0	33	168					T	179112077	C	T	179112077	1	4	79	0	1	0	0	0	0	0	0	0	93	884	31	1		1	ABL2	1	179112077	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34037	179112077	70138544	1490	11807											
C1orf125	126859	broad.mit.edu	37	chr1	179414170	179414170	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaaaatacgatactctcaaGattattaaacatttacagga	4	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179414170G>T	ENST00000367618.3	+	16	2016	c.1629G>T	c.(1627-1629)aaG>aaT	p.K543N	AXDND1_ENST00000457238.2_Missense_Mutation_p.K543N|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	543										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACTCTCAAGATTATTAAAC	0.393																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1627-1629)aaG>aaT		axonemal dynein light chain domain containing 1							93	99	97					1																	179414170		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414170G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1629G>T	1.37:g.179414170G>T	ENSP00000356590:p.Lys543Asn					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.K543N	p.K543N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			16	2016	+			543					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1629G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423516	0.43020	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.47869	2.12;0.83;2.14	5.65	3.76	0.43208	.	0.221447	0.47852	D	0.000213	T	0.37210	0.0995	L	0.43152	1.355	0.27449	N	0.953484	B;B;B	0.25719	0.132;0.02;0.047	B;B;B	0.22386	0.017;0.012;0.039	T	0.34129	-0.9841	10	0.59425	D	0.04	-12.5854	8.0527	0.30587	0.189:0.0:0.811:0.0	.	501;543;543	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	N	543;501;543;477	ENSP00000356590:K543N;ENSP00000416712:K543N;ENSP00000391716:K477N	ENSP00000353471:K501N	K	+	3	2	AXDND1	177680793	1.000000	0.71417	0.972000	0.41901	0.951000	0.60555	1.968000	0.40500	0.834000	0.34852	0.549000	0.68633	AAG		0.393	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		153	456	1	0	1.19538e-77	1	1.52632e-77	153	456					T	179414170	G	T	179414170	3	4	79	1	0	0	0	0	1	0	0	0	2000	933	33	3	1687	3	C1orf125	1	179414170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302093	179414170	69836451	1491	11808											
C1orf125	126859	broad.mit.edu	37	chr1	179503899	179503899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccagacaggcagaggagAagtttgaagatgcatatgag	15	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179503899A>C	ENST00000367618.3	+	25	3220	c.2833A>C	c.(2833-2835)Aag>Cag	p.K945Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	945	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGCAGAGGAGAAGTTTGAAGA	0.348																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2833-2835)Aag>Cag		axonemal dynein light chain domain containing 1							69	70	70					1																	179503899		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179503899A>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2833A>C	1.37:g.179503899A>C	ENSP00000356590:p.Lys945Gln						p.K945Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			25	3220	+			945			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2833A>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072270	0.20147	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.33216	1.42;1.42	4.89	4.89	0.63831	.	0.667620	0.13957	N	0.351140	T	0.28532	0.0706	N	0.24115	0.695	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.47981	0.563;0.563	T	0.03175	-1.1064	10	0.52906	T	0.07	-8.6421	12.2781	0.54749	1.0:0.0:0.0:0.0	.	829;945	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	945;829;805	ENSP00000356590:K945Q;ENSP00000391716:K805Q	ENSP00000353471:K829Q	K	+	1	0	AXDND1	177770522	0.859000	0.29813	0.988000	0.46212	0.610000	0.37248	2.321000	0.43805	2.179000	0.69175	0.482000	0.46254	AAG		0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		79	336	0	0	0	1	0	79	336					C	179503899	A	C	179503899	3	2	79	1	0	0	0	0	1	0	0	0	2000	247	9	4	2927	4	C1orf125	1	179503899	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89729	179503899	69746722	1492	11809											
NPHS2	7827	broad.mit.edu	37	chr1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatggaatctcacctttaCgcagaaccagatggaaaaag	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478																																						ENST00000367615.4																			1	Substitution - Missense(1)	p.V125L(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(373-375)Gta>Ata		nephrosis 2, idiopathic, steroid-resistant (podocin)							68	69	69					1																	179533830		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179533830C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.373G>A	1.37:g.179533830C>T	ENSP00000356587:p.Val125Ile					NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			2	441	-			125					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.373G>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617261	0.00828	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99470	-5.96;-5.96	5.46	-2.94	0.05581	.	0.267536	0.43416	N	0.000575	D	0.92404	0.7589	N	0.01228	-0.945	0.29344	N	0.86585	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.91621	0.5311	10	0.02654	T	1	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	125	ENSP00000356587:V125I;ENSP00000356588:V125I	ENSP00000356587:V125I	V	-	1	0	NPHS2	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA		0.478	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			46	234	0	0	0	1	0	46	234					T	179533830	C	T	179533830	3	4	79	1	0	0	0	0	1	0	0	0	10625	536	19	1	806	1	NPHS2	1	179533830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29931	179533830	69716791	1493	11810											
TDRD5	163589	broad.mit.edu	37	chr1	179564779	179564779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtaaaatttttacccaGccatttagaatgaaacaagg	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000367614.1	+	4	1016	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000444136.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	219					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTACCCAGCCATTTAGAA	0.393																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(655-657)caG>caA		tudor domain containing 5							55	57	56					1																	179564779		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179564779G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.657G>A	1.37:g.179564779G>A						TDRD5_ENST00000367614.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	p.Q219Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			4	907	+			219			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.657G>A	CCDS1332.1																																																																																				0.393	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		88	250	0	0	0	1	0	88	250					A	179564779	G	A	179564779	2	1	79	1	0	0	0	0	0	0	0	1	15785	962	34	2		2	TDRD5	1	179564779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30949	179564779	69685842	1494	11811											
TDRD5	163589	broad.mit.edu	37	chr1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcagaaaagccctctggttCtggtatgtttgtgtgtactt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000367614.1	+	16	3055	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	899					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTCTGGTTCTGGTATGTTT	0.443																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(2857-2859)tCt>tAt		tudor domain containing 5							123	103	110					1																	179638537		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179638537C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2696C>A	1.37:g.179638537C>A	ENSP00000356586:p.Ser899Tyr					TDRD5_ENST00000367614.1_Missense_Mutation_p.S899Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	p.S953Y	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			17	3108	+			899					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2858C>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016016	0.07959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34472	2.51;2.51;2.76;1.36	5.5	3.41	0.39046	.	0.791726	0.11065	N	0.603555	T	0.30854	0.0778	L	0.54323	1.7	0.28561	N	0.91114	B;B	0.33212	0.402;0.28	B;B	0.29716	0.106;0.049	T	0.33929	-0.9849	10	0.72032	D	0.01	-4.5519	5.5792	0.17241	0.0:0.7273:0.0:0.2727	.	953;899	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	899;899;953;409	ENSP00000356586:S899Y;ENSP00000294848:S899Y;ENSP00000406052:S953Y;ENSP00000410744:S409Y	ENSP00000294848:S899Y	S	+	2	0	TDRD5	177905160	1.000000	0.71417	0.938000	0.37757	0.029000	0.11900	1.229000	0.32600	1.324000	0.45282	-0.143000	0.13931	TCT		0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		56	295	1	0	2.48254e-18	1	2.75398e-18	56	295					A	179638537	C	A	179638537	3	1	79	1	0	0	0	0	1	0	0	0	15785	913	32	3	2754	3	TDRD5	1	179638537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73758	179638537	69612084	1495	11812											
FAM163A	148753	broad.mit.edu	37	chr1	179782952	179782952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaaccgaggttgcagaCgaggaggaggagcgggagca	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	44						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637																																						ENST00000341785.4																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						c.(130-132)gaC>gaT		family with sequence similarity 163, member A							50	46	47					1																	179782952		2203	4300	6503	SO:0001819	synonymous_variant	148753					integral to membrane		g.chr1:179782952C>T	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.132C>T	1.37:g.179782952C>T							p.D44D	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN			5	528	+			44					A8K8R7	Silent	SNP	ENST00000341785.4	37	c.132C>T	CCDS1333.1																																																																																				0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		90	266	0	0	0	1	0	90	266					T	179782952	C	T	179782952	2	4	79	1	0	0	0	0	0	0	0	1	5497	535	19	1		1	FAM163A	1	179782952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144415	179782952	69467669	1496	11813											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgcactttctggaccttCtgtctctacctcttggtggt	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(175-177)Gaa>Taa		torsin A interacting protein 2							160	154	156					1																	179820358		2203	4300	6503	SO:0001587	stop_gained	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820358C>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.175G>T	1.37:g.179820358C>A	ENSP00000356584:p.Glu59*						p.E59*	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	562	-			59					Q05BU2	Nonsense_Mutation	SNP	ENST00000367612.3	37	c.175G>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978373	0.74360	.	.	ENSG00000169905	ENST00000367612	.	.	.	5.14	-8.88	0.00789	.	3.756630	0.00582	N	0.000320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	6.5336	9.1746	0.37105	0.1111:0.5317:0.0:0.3572	.	.	.	.	X	59	.	ENSP00000356584:E59X	E	-	1	0	TOR1AIP2	178086981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.196000	0.00276	-1.950000	0.01030	-1.423000	0.01107	GAA		0.448	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		89	483	1	0	3.77759e-48	1	4.65876e-48	89	483					A	179820358	C	A	179820358	4	1	79	1	0	0	0	0	0	1	0	0	16426	922	32	3	1249	3	TOR1AIP2	1	179820358	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37406	179820358	69430263	1497	11814											
CEP350	9857	broad.mit.edu	37	chr1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatccccctgttatttccaAaaggcgccactatgacacag	7	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	587					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTATTTCCAAAAGGCGCCAC	0.443																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(1759-1761)aAa>aGa		centrosomal protein 350kDa							52	47	49					1																	179983348		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983348A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1760A>G	1.37:g.179983348A>G	ENSP00000356579:p.Lys587Arg						p.K587R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			10	2178	+			587					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1760A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761437	0.89932	.	.	ENSG00000135837	ENST00000367607	D	0.90197	-2.63	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000082	D	0.94850	0.8336	M	0.73598	2.24	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94602	0.7797	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	587;587	E7EU22;Q5VT06	.;CE350_HUMAN	R	587	ENSP00000356579:K587R	.	K	+	2	0	CEP350	178249971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.810000	0.75216	2.251000	0.74343	0.528000	0.53228	AAA		0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		18	51	0	0	0	1	0	18	51					G	179983348	A	G	179983348	3	3	79	1	0	0	0	0	1	0	0	0	3263	14	1	4	1794	4	CEP350	1	179983348	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162990	179983348	69267273	1498	11815											
CEP350	9857	broad.mit.edu	37	chr1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccataaaaagaagtagcaGtggtagcagccgccaagaaa	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1544	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAGTAGCAGTGGTAGCAGC	0.348																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4630-4632)aGt>aAt		centrosomal protein 350kDa							88	91	90					1																	180017679		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180017679G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4631G>A	1.37:g.180017679G>A	ENSP00000356579:p.Ser1544Asn						p.S1544N	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			22	5049	+			1544			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4631G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237742	0.79800	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000090	T	0.61311	0.2337	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.932	D;P	0.70227	0.968;0.476	T	0.57516	-0.7798	9	.	.	.	.	17.271	0.87102	0.0:0.0:1.0:0.0	.	1544;1544	E7EU22;Q5VT06	.;CE350_HUMAN	N	1544	ENSP00000356579:S1544N	.	S	+	2	0	CEP350	178284302	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.413000	0.66399	2.611000	0.88343	0.563000	0.77884	AGT		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		32	207	0	0	0	1	0	32	207					A	180017679	G	A	180017679	3	1	79	1	0	0	0	0	1	0	0	0	3263	1029	36	2	4713	2	CEP350	1	180017679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34331	180017679	69232942	1499	11816											
CEP350	9857	broad.mit.edu	37	chr1	180022124	180022124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcaacgtctattgcaacAgaatattctctgaaatttga	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1604					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATTGCAACAGAATATTCTC	0.323																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4810-4812)acA>acG		centrosomal protein 350kDa							60	63	62					1																	180022124		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180022124A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4812A>G	1.37:g.180022124A>G							p.T1604T	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			23	5230	+			1604					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4812A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.266	-0.996455	0.02145	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.13	0.36017	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.3946	0.26929	0.6782:0.1222:0.0:0.1995	.	.	.	.	G	244	.	.	R	+	1	2	CEP350	178288747	0.992000	0.36948	1.000000	0.80357	0.039000	0.13416	0.374000	0.20501	1.035000	0.39972	-0.323000	0.08544	AGA		0.323	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		42	164	0	0	0	1	0	42	164					G	180022124	A	G	180022124	2	3	79	1	0	0	0	0	0	0	0	1	3263	175	7	4		4	CEP350	1	180022124	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4445	180022124	69228497	1500	11817											
QSOX1	5768	broad.mit.edu	37	chr1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactgcactacatcctgCggatagaagtgggcaggttc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367602.3	+	8	1011	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	313					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557																																						ENST00000367602.3																			1	Substitution - Missense(1)	p.R313W(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(937-939)Cgg>Tgg		quiescin Q6 sulfhydryl oxidase 1							102	97	98					1																	180155237		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180155237C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.937C>T	1.37:g.180155237C>T	ENSP00000356574:p.Arg313Trp					QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W	p.R313W			O00391	QSOX1_HUMAN			8	1011	+			313					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.937C>T	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449011	0.84101	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17528	3.46;2.27	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.87900	2.915	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.924;1.0	T	0.51803	-0.8659	10	0.59425	D	0.04	-23.017	13.817	0.63299	0.1539:0.8461:0.0:0.0	.	313;313;313	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	W	313	ENSP00000356574:R313W;ENSP00000356572:R313W	ENSP00000356572:R313W	R	+	1	2	QSOX1	178421860	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	1.971000	0.40530	2.518000	0.84900	0.561000	0.74099	CGG		0.557	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		35	358	0	0	0	1	0	35	358					T	180155237	C	T	180155237	3	4	79	1	0	0	0	0	1	0	0	0	12933	759	27	1	967	1	QSOX1	1	180155237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133113	180155237	69095384	1501	11818											
XPR1	9213	broad.mit.edu	37	chr1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatgaggaacgtgtccaAcatagaaatattaaagacct	7	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	124	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(370-372)caA>caC		xenotropic and polytropic retrovirus receptor 1							149	148	149					1																	180772672		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180772672A>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.372A>C	1.37:g.180772672A>C	ENSP00000356562:p.Gln124His					XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			4	570	+			124			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.372A>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813707	0.50527	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45276	0.9	5.93	3.63	0.41609	SPX, N-terminal (2);	0.105520	0.64402	D	0.000004	T	0.24661	0.0598	N	0.17379	0.485	0.49213	D	0.999762	B;B	0.18310	0.027;0.009	B;B	0.19666	0.026;0.014	T	0.04400	-1.0954	10	0.33141	T	0.24	-10.9566	7.4345	0.27148	0.6443:0.0:0.3557:0.0	.	124;124	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	124	ENSP00000356562:Q124H	ENSP00000356561:Q124H	Q	+	3	2	XPR1	179039295	0.566000	0.26618	1.000000	0.80357	0.990000	0.78478	-0.162000	0.10012	0.510000	0.28216	0.482000	0.46254	CAA		0.438	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		178	548	0	0	0	1	0	178	548					C	180772672	A	C	180772672	3	2	79	1	0	0	0	0	1	0	0	0	17505	40	2	4	386	4	XPR1	1	180772672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	617435	180772672	68477949	1502	11819											
XPR1	9213	broad.mit.edu	37	chr1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctactgggcatcaacaCgtatggttggagacaggctg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(865-867)aCg>aTg		xenotropic and polytropic retrovirus receptor 1							151	145	147					1																	180793991		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793991C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.866C>T	1.37:g.180793991C>T	ENSP00000356562:p.Thr289Met					XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	1064	+			289					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.866C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365427	0.61513	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.28192	0.835	0.80722	D	1	P;P	0.46457	0.878;0.472	B;B	0.40901	0.343;0.094	T	0.08066	-1.0740	10	0.37606	T	0.19	-6.6435	19.315	0.94208	0.0:1.0:0.0:0.0	.	289;289	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	289	ENSP00000356562:T289M;ENSP00000356561:T289M	ENSP00000356561:T289M	T	+	2	0	XPR1	179060614	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.338000	0.79269	2.665000	0.90641	0.650000	0.86243	ACG		0.388	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		78	242	0	0	0	1	0	78	242					T	180793991	C	T	180793991	3	4	79	1	0	0	0	0	1	0	0	0	17505	536	19	1	896	1	XPR1	1	180793991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21319	180793991	68456630	1503	11820											
XPR1	9213	broad.mit.edu	37	chr1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatatgtgtatccacttGccctttatggatttatggtt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_ENST00000367589.3_Missense_Mutation_p.A350T|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	350					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1048-1050)Gcc>Acc		xenotropic and polytropic retrovirus receptor 1							189	184	186					1																	180794394		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794394G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1048G>A	1.37:g.180794394G>A	ENSP00000356562:p.Ala350Thr					XPR1_ENST00000367589.3_Missense_Mutation_p.A350T	p.A350T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			9	1246	+			350					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1048G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981401	0.34942	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	EXS, C-terminal (1);	0.344782	0.32093	N	0.006588	T	0.32585	0.0834	L	0.39566	1.225	0.33990	D	0.649014	B;B	0.22146	0.006;0.065	B;B	0.25759	0.025;0.063	T	0.40942	-0.9536	10	0.37606	T	0.19	-0.4905	7.5937	0.28035	0.2017:0.0:0.7983:0.0	.	350;350	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	350	ENSP00000356562:A350T;ENSP00000356561:A350T	ENSP00000356561:A350T	A	+	1	0	XPR1	179061017	0.857000	0.29778	0.997000	0.53966	0.995000	0.86356	2.800000	0.47900	2.587000	0.87381	0.557000	0.71058	GCC		0.433	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		213	599	0	0	0	1	0	213	599					A	180794394	G	A	180794394	3	1	79	1	0	0	0	0	1	0	0	0	17505	1319	46	2	1082	2	XPR1	1	180794394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	180794394	68456227	1504	11821											
XPR1	9213	broad.mit.edu	37	chr1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagagcatatccctgCgccggcctcgcctcgcttct	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	670					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(2008-2010)Cgc>Tgc		xenotropic and polytropic retrovirus receptor 1							132	126	128					1																	180849411		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180849411C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2008C>T	1.37:g.180849411C>T	ENSP00000356562:p.Arg670Cys					XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	p.R670C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			14	2206	+			670					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.2008C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272115	0.80469	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.56	4.64	0.57946	.	0.047493	0.85682	N	0.000000	T	0.50905	0.1643	L	0.50333	1.59	0.47476	D	0.99943	P;D	0.60160	0.95;0.987	P;B	0.49047	0.599;0.394	T	0.55192	-0.8179	10	0.56958	D	0.05	-2.4789	14.6826	0.69028	0.0:0.9285:0.0:0.0715	.	605;670	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	670;605	ENSP00000356562:R670C	ENSP00000356561:R605C	R	+	1	0	XPR1	179116034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	1.461000	0.47929	0.591000	0.81541	CGC		0.473	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		95	283	0	0	0	1	0	95	283					T	180849411	C	T	180849411	3	4	79	1	0	0	0	0	1	0	0	0	17505	768	27	1	2062	1	XPR1	1	180849411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55017	180849411	68401210	1505	11822											
KIAA1614	57710	broad.mit.edu	37	chr1	180886166	180886166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgcaggagatgctcaaCgtttctgggcagagcccccg	13	12	2	2	rs538856835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	309										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001					ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(925-927)aaC>aaT		KIAA1614							37	43	41					1																	180886166		2009	4180	6189	SO:0001819	synonymous_variant	57710							g.chr1:180886166C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.927C>T	1.37:g.180886166C>T							p.N309N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	982	+			309					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.927C>T	CCDS41442.1																																																																																				0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		61	259	0	0	0	1	0	61	259					T	180886166	C	T	180886166	2	4	79	1	0	0	0	0	0	0	0	1	8278	535	19	1		1	KIAA1614	1	180886166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36755	180886166	68364455	1506	11823											
KIAA1614	57710	broad.mit.edu	37	chr1	180904329	180904329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaacgggcacacgagCgattcctccagcggagagtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1282-1284)agC>agT		KIAA1614							11	15	14					1																	180904329		2028	4180	6208	SO:0001819	synonymous_variant	57710							g.chr1:180904329C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1284C>T	1.37:g.180904329C>T						KIAA1614_ENST00000367587.1_Silent_p.S49S	p.S428S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1339	+			428					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.1284C>T	CCDS41442.1																																																																																				0.677	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		20	75	0	0	0	1	0	20	75					T	180904329	C	T	180904329	2	4	79	1	0	0	0	0	0	0	0	1	8278	767	27	1		1	KIAA1614	1	180904329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18163	180904329	68346292	1507	11824											
KIAA1614	57710	broad.mit.edu	37	chr1	180904637	180904637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcaccgccggcaccggGcagcgagaggaggtgccagg	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	ENST00000367588.4	+	5	1647	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	531										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGGCACCGGGCAGCGAGAGG	0.756																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1591-1593)gGc>gAc		KIAA1614							3	5	4					1																	180904637		1593	3494	5087	SO:0001583	missense	57710							g.chr1:180904637G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1592G>A	1.37:g.180904637G>A	ENSP00000356560:p.Gly531Asp					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	p.G531D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1647	+			531					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1592G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873767	0.17322	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.22743	2.48;1.94	4.82	-0.878	0.10617	.	1.322710	0.05186	N	0.502289	T	0.10594	0.0259	L	0.28274	0.84	0.25097	N	0.990811	B	0.11235	0.004	B	0.09377	0.004	T	0.22906	-1.0203	9	0.06494	T	0.89	-3.6239	1.1462	0.01776	0.4344:0.263:0.1516:0.151	.	531	Q5VZ46	K1614_HUMAN	D	531;152	ENSP00000356560:G531D;ENSP00000356559:G152D	ENSP00000356559:G152D	G	+	2	0	KIAA1614	179171260	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.013000	0.13310	-0.270000	0.09285	0.457000	0.33378	GGC		0.756	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	58	0	0	0	1	0	11	58					A	180904637	G	A	180904637	3	1	79	1	0	0	0	0	1	0	0	0	8278	1203	42	2	1610	2	KIAA1614	1	180904637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	180904637	68345984	1508	11825											
KIAA1614	57710	broad.mit.edu	37	chr1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgagagaagatgccaaGcctcctgacctggagttgaa	11	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2122-2124)aaG>aaT		KIAA1614							92	98	96					1																	180905169		1997	4178	6175	SO:0001583	missense	57710							g.chr1:180905169G>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2124G>T	1.37:g.180905169G>T	ENSP00000356560:p.Lys708Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	p.K708N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2179	+			708					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2124G>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120431	0.37436	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.4;1.82	4.1	1.11	0.20524	.	0.967631	0.08516	N	0.934229	T	0.15305	0.0369	L	0.27053	0.805	0.22745	N	0.998786	B	0.24258	0.1	B	0.17433	0.018	T	0.30179	-0.9987	9	0.39692	T	0.17	-4.2637	3.0132	0.06051	0.1042:0.1763:0.5377:0.1818	.	708	Q5VZ46	K1614_HUMAN	N	708;329	ENSP00000356560:K708N;ENSP00000356559:K329N	ENSP00000356559:K329N	K	+	3	2	KIAA1614	179171792	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.504000	0.22626	0.045000	0.15804	-1.086000	0.02197	AAG		0.572	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		142	623	1	0	2.93227e-69	1	3.72104e-69	142	623					T	180905169	G	T	180905169	3	4	79	1	0	0	0	0	1	0	0	0	8278	962	34	3	2142	3	KIAA1614	1	180905169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532	180905169	68345452	1509	11826											
MR1	3140	broad.mit.edu	37	chr1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttaatggtgaagcacagcGattcccgtgagtatcccacg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000282990.6_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000434571.2_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	21					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAAGCACAGCGATTCCCGTGA	0.453																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(61-63)Gat>Aat		major histocompatibility complex, class I-related							137	116	123					1																	181003204		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181003204G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.61G>A	1.37:g.181003204G>A	ENSP00000356552:p.Asp21Asn					MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N	p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			1	66	+			21					A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.61G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733194	0.15574	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00932	6.12;6.01;5.87;5.53	3.64	-3.93	0.04143	.	1.619240	0.03737	N	0.254405	T	0.00784	0.0026	L	0.31065	0.9	0.21290	N	0.999739	B;B;P;B;B	0.46327	0.002;0.002;0.876;0.001;0.001	B;B;B;B;B	0.34652	0.001;0.001;0.187;0.001;0.001	T	0.51371	-0.8714	9	0.23891	T	0.37	.	7.6435	0.28307	0.6424:0.1687:0.189:0.0	.	21;21;21;21;21	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	N	21	ENSP00000388504:D21N;ENSP00000356552:D21N;ENSP00000282990:D21N;ENSP00000356551:D21N	ENSP00000282990:D21N	D	+	1	0	MR1	179269827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-0.986000	0.03498	-1.578000	0.00866	GAT		0.453	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		32	176	0	0	0	1	0	32	176					A	181003204	G	A	181003204	3	1	79	1	0	0	0	0	1	0	0	0	9793	1058	37	1	63	1	MR1	1	181003204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98035	181003204	68247417	1510	11827											
MR1	3140	broad.mit.edu	37	chr1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattggctggaagaagaatGtattgcctggctaaagagat	13	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000434571.2_Missense_Mutation_p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	183	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAAGAAGAATGTATTGCCTGG	0.468																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(547-549)tGt>tAt		major histocompatibility complex, class I-related							101	101	101					1																	181019366		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019366G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.548G>A	1.37:g.181019366G>A	ENSP00000356552:p.Cys183Tyr					MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y	p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			3	553	+			183			Alpha-2.|Ligand-binding.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.548G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472613	0.63737	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.99413	7.85;7.85;7.85;-5.86	4.81	3.87	0.44632	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000004	D	0.99635	0.9866	H	0.96805	3.885	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	10.0672	0.42311	0.1034:0.0:0.8966:0.0	.	183;183;138;183;183	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	Y	183;183;183;138	ENSP00000388504:C183Y;ENSP00000356552:C183Y;ENSP00000282990:C183Y;ENSP00000356551:C138Y	ENSP00000282990:C183Y	C	+	2	0	MR1	179285989	0.998000	0.40836	0.992000	0.48379	0.870000	0.49936	2.947000	0.49058	1.174000	0.42811	0.557000	0.71058	TGT		0.468	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		70	367	0	0	0	1	0	70	367					A	181019366	G	A	181019366	3	1	79	1	0	0	0	0	1	0	0	0	9793	1377	48	2	558	2	MR1	1	181019366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16162	181019366	68231255	1511	11828											
MR1	3140	broad.mit.edu	37	chr1	181021609	181021609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttactcctgtcatgtggaGcactgcggtgtccacatggt	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GTCATGTGGAGCACTGCGGTG	0.547																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(841-843)gaG>gaA		major histocompatibility complex, class I-related							60	65	63					1																	181021609		2203	4300	6503	SO:0001819	synonymous_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021609G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.843G>A	1.37:g.181021609G>A						MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E	p.E281E	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			4	848	+			281			Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	c.843G>A	CCDS1342.1																																																																																				0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		31	237	0	0	0	1	0	31	237					A	181021609	G	A	181021609	2	1	79	1	0	0	0	0	0	0	0	1	9793	962	34	2		2	MR1	1	181021609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2243	181021609	68229012	1512	11829											
CACNA1E	777	broad.mit.edu	37	chr1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatcattggatcctTctttgttctcaacctagtcc	4	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000367573.2	+	7	1019	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	340					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTGGATCCTTCTTTGTTCTC	0.438																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1018-1020)tTc>tAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							198	189	192					1																	181620541		1925	4133	6058	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181620541T>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1019T>A	1.37:g.181620541T>A	ENSP00000356545:p.Phe340Tyr					CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F340Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y	p.F340Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			7	1184	+			340					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1019T>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090601	0.76756	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.86420	2.815	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	D	0.99418	1.0932	10	0.56958	D	0.05	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	340;340	Q15878-2;Q15878-3	.;.	Y	340;340;340;291;291;340;340	ENSP00000432038:F340Y;ENSP00000356542:F340Y;ENSP00000434814:F340Y;ENSP00000350183:F291Y;ENSP00000351101:F291Y;ENSP00000353222:F340Y;ENSP00000356545:F340Y	ENSP00000350183:F291Y	F	+	2	0	CACNA1E	179887164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.062000	0.61559	0.460000	0.39030	TTC		0.438	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		77	437	0	0	0	1	0	77	437					A	181620541	T	A	181620541	3	1	79	1	0	0	0	0	1	0	0	0	2549	1783	62	5	1045	5	CACNA1E	1	181620541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	598932	181620541	67630080	1513	11830											
CACNA1E	777	broad.mit.edu	37	chr1	181687258	181687258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgtatggcatgggGcctcgcctttattttcactc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181687258G>A	ENST00000367573.2	+	12	1593	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000526775.1_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367567.4_Silent_p.G138G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	531					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGCATGGGGCCTCGCCTTT	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1591-1593)ggG>ggA		calcium channel, voltage-dependent, R type, alpha 1E subunit							113	107	109					1																	181687258		1898	4121	6019	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181687258G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1593G>A	1.37:g.181687258G>A						CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000367573.2_Silent_p.G531G|CACNA1E_ENST00000357570.5_Silent_p.G482G	p.G531G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			12	1758	+			531					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1593G>A	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	135	0	0	0	1	0	33	135					A	181687258	G	A	181687258	2	1	79	1	0	0	0	0	0	0	0	1	2549	1190	42	2		2	CACNA1E	1	181687258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66717	181687258	67563363	1514	11831											
CACNA1E	777	broad.mit.edu	37	chr1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattcatcaccccagacaCgctactgaatgtgttcttgg	7	11	3	2	rs375559507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000367573.2	+	17	2078	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	693					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCAGACACGCTACTGAAT	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2077-2079)aCg>aTg		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	MET/THR,MET/THR,MET/THR	0,3944		0,0,1972	135	124	128		2078,2078,2078	4.9	0.9	1		128	1,8313		0,1,4156	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	81,81,81	0,1,6128	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging	693/2271,693/2314,693/2252	181693609	1,12257	1972	4157	6129	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693609C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2078C>T	1.37:g.181693609C>T	ENSP00000356545:p.Thr693Met					CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T693M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M	p.T693M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			17	2243	+			693					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2078C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670172	0.67814	0.0	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56280	1.765	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.57371	0.819;0.819	D	0.99047	1.0826	10	0.62326	D	0.03	.	17.9496	0.89048	0.0:1.0:0.0:0.0	.	693;693	Q15878-2;Q15878-3	.;.	M	693;693;644;644;300;693;693	ENSP00000356542:T693M;ENSP00000434814:T693M;ENSP00000350183:T644M;ENSP00000351101:T644M;ENSP00000356539:T300M;ENSP00000353222:T693M;ENSP00000356545:T693M	ENSP00000350183:T644M	T	+	2	0	CACNA1E	179960232	1.000000	0.71417	0.878000	0.34440	0.861000	0.49209	5.945000	0.70226	2.390000	0.81377	0.462000	0.41574	ACG		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		23	79	0	0	0	1	0	23	79					T	181693609	C	T	181693609	3	4	79	1	0	0	0	0	1	0	0	0	2549	536	19	1	2144	1	CACNA1E	1	181693609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6351	181693609	67557012	1515	11832											
CACNA1E	777	broad.mit.edu	37	chr1	181693628	181693628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctactgaatgtgttcttGgctatcgctgtggataatct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000367573.2	+	17	2097	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000526775.1_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367567.4_Silent_p.L306L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	699					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCTTGGCTATCGCTG	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2095-2097)ttG>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							141	131	134					1																	181693628		1981	4170	6151	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693628G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2097G>A	1.37:g.181693628G>A						CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000367573.2_Silent_p.L699L|CACNA1E_ENST00000357570.5_Silent_p.L650L	p.L699L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			17	2262	+			699					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2097G>A	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		17	79	0	0	0	1	0	17	79					A	181693628	G	A	181693628	2	1	79	1	0	0	0	0	0	0	0	1	2549	1339	47	2		2	CACNA1E	1	181693628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	181693628	67556993	1516	11833											
CACNA1E	777	broad.mit.edu	37	chr1	181701981	181701981	+	Missense_Mutation	SNP	G	G	A													gcacaggcagagccaacggcGcagccggcatcgccgcgtca					rs377338098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701981G>A	ENST00000367573.2	+	20	2759	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R901H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	920					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCCAACGGCGCAGCCGGCAT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17191	0.0		0.0	False		,,,				2504	0.001					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2701-2703)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4252		0,0,2126	51	60	57		2702,2759,2759	4.1	1	1		57	1,8493		0,1,4246	no	missense,missense,missense	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	29,29,29	0,1,6372	AA,AG,GG		0.0118,0.0,0.0078	benign,benign,benign	901/2252,920/2314,920/2271	181701981	1,12745	2126	4247	6373	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701981G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2759G>A	1.37:g.181701981G>A	ENSP00000356545:p.Arg920His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R920H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H	p.R901H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2867	+			920					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2702G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705010	0.68615	0.0	1.18E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96168	-3.88;-3.88;-3.88;-3.88;-3.93;-3.89;-3.88	4.13	4.13	0.48395	.	0.942416	0.08881	N	0.880021	D	0.90215	0.6941	N	0.08118	0	0.53005	D	0.999964	B;B;B	0.21688	0.059;0.035;0.059	B;B;B	0.13407	0.008;0.009;0.008	T	0.79567	-0.1750	10	0.36615	T	0.2	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	901;920;920	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	920;901;871;852;527;901;920	ENSP00000356542:R920H;ENSP00000434814:R901H;ENSP00000350183:R871H;ENSP00000351101:R852H;ENSP00000356539:R527H;ENSP00000353222:R901H;ENSP00000356545:R920H	ENSP00000350183:R871H	R	+	2	0	CACNA1E	179968604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.941000	0.63540	2.592000	0.87571	0.555000	0.69702	CGC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		95	531	0	0	0	1	0	95	531					A	181701981	G	A	181701981	3	1	79	1	0	0	0	0	1	0	0	0	2549	1087	38	1	2837	1	CACNA1E	1	181701981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8353	181701981	67548640	1517	11834	75	2									
CACNA1E	777	broad.mit.edu	37	chr1	181701985	181701985	+	Silent	SNP	C	C	T													aggcagagccaacggcgcagCcggcatcgccgcgtcaggac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000367573.2	+	20	2763	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000526775.1_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367567.4_Silent_p.S528S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	921					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACGGCGCAGCCGGCATCGCC	0.647																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2704-2706)agC>agT		calcium channel, voltage-dependent, R type, alpha 1E subunit							54	63	60					1																	181701985		2125	4249	6374	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701985C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2763C>T	1.37:g.181701985C>T						CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000367573.2_Silent_p.S921S|CACNA1E_ENST00000357570.5_Silent_p.S872S	p.S902S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2871	+			921					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2706C>T	CCDS55664.1																																																																																				0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		64	574	0	0	0	1	0	64	574					T	181701985	C	T	181701985	2	4	79	1	0	0	0	0	0	0	0	1	2549	738	26	2		2	CACNA1E	1	181701985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	181701985	67548636	1518	11835	75	2									
CACNA1E	777	broad.mit.edu	37	chr1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgatccaagaagagagagCccaggatttaaggaggtgag	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000367573.2	+	20	2933	c.2933C>A	c.(2932-2934)gCc>gAc	p.A978D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	978					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A978D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGAGAGAGCCCAGGATTTA	0.542																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.A978D(1)	lung(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2875-2877)gCc>gAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							38	44	42					1																	181702155		2085	4217	6302	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702155C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2933C>A	1.37:g.181702155C>A	ENSP00000356545:p.Ala978Asp					CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A978D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D	p.A959D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	3041	+			978					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2876C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197918	0.09652	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.85;-3.86;-3.86;-3.86;-3.92;-3.87;-3.86	4.03	1.06	0.20224	.	2.114420	0.03186	U	0.172771	D	0.88418	0.6431	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.005;0.032	B;B;B	0.18871	0.023;0.015;0.023	T	0.79524	-0.1768	10	0.11485	T	0.65	.	9.042	0.36322	0.0:0.3528:0.5552:0.092	.	959;978;978	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	978;959;929;910;585;959;978	ENSP00000356542:A978D;ENSP00000434814:A959D;ENSP00000350183:A929D;ENSP00000351101:A910D;ENSP00000356539:A585D;ENSP00000353222:A959D;ENSP00000356545:A978D	ENSP00000350183:A929D	A	+	2	0	CACNA1E	179968778	0.000000	0.05858	0.009000	0.14445	0.594000	0.36715	-0.289000	0.08365	0.246000	0.21394	0.555000	0.69702	GCC		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		29	174	1	0	1.77063e-15	1	1.9355e-15	29	174					A	181702155	C	A	181702155	3	1	79	1	0	0	0	0	1	0	0	0	2549	739	26	3	3011	3	CACNA1E	1	181702155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	181702155	67548466	1519	11836											
CACNA1E	777	broad.mit.edu	37	chr1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctataccatacgcattttgCtgtggacctttgtgcagtcc	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000367573.2	+	34	4789	c.4789C>A	c.(4789-4791)Ctg>Atg	p.L1597M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1597					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGCATTTTGCTGTGGACCTT	0.498																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4732-4734)Ctg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							61	60	60					1																	181732641		1892	4124	6016	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181732641C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4789C>A	1.37:g.181732641C>A	ENSP00000356545:p.Leu1597Met					CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1597M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M	p.L1578M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			33	4897	+			1597					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4732C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316400	0.81469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.98630	1.0671	10	0.66056	D	0.02	.	13.9604	0.64175	0.0:0.924:0.0:0.076	.	1578;1597;1597	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1597;1578;1548;1529;1204;1578;1597	ENSP00000356542:L1597M;ENSP00000434814:L1578M;ENSP00000350183:L1548M;ENSP00000351101:L1529M;ENSP00000356539:L1204M;ENSP00000353222:L1578M;ENSP00000356545:L1597M	ENSP00000350183:L1548M	L	+	1	2	CACNA1E	179999264	1.000000	0.71417	0.597000	0.28824	0.956000	0.61745	3.673000	0.54591	2.471000	0.83476	0.467000	0.42956	CTG		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	156	1	0	7.16026e-08	1	7.45543e-08	33	156					A	181732641	C	A	181732641	3	1	79	1	0	0	0	0	1	0	0	0	2549	796	28	3	4923	3	CACNA1E	1	181732641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	181732641	67517980	1520	11837											
CACNA1E	777	broad.mit.edu	37	chr1	181741352	181741352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactttgtctccttcatcttCttctgctccttcttggtgag	6	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000367573.2	+	37	5124	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000526775.1_Silent_p.F1689F|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367567.4_Silent_p.F1315F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1708					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCATCTTCTTCTGCTCCT	0.537																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5065-5067)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit							207	206	206					1																	181741352		2184	4273	6457	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741352C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5124C>T	1.37:g.181741352C>T						CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000367573.2_Silent_p.F1708F|CACNA1E_ENST00000357570.5_Silent_p.F1659F	p.F1689F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			36	5232	+			1708					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5067C>T	CCDS55664.1																																																																																				0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		190	562	0	0	0	1	0	190	562					T	181741352	C	T	181741352	2	4	79	1	0	0	0	0	0	0	0	1	2549	912	32	2		2	CACNA1E	1	181741352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8711	181741352	67509269	1521	11838											
CACNA1E	777	broad.mit.edu	37	chr1	181767892	181767892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactatcggcggcggaggcgCggggggcctgggccaggcat	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000367573.2	+	48	6864	c.6864C>T	c.(6862-6864)cgC>cgT	p.R2288R	CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000526775.1_Silent_p.R2226R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367567.4_Silent_p.R1852R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2288	Poly-Arg.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGAGGCGCGGGGGGCCTG	0.647																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6676-6678)cgC>cgT		calcium channel, voltage-dependent, R type, alpha 1E subunit							14	17	16					1																	181767892		1966	4140	6106	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767892C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6864C>T	1.37:g.181767892C>T						CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000367573.2_Silent_p.R2288R|CACNA1E_ENST00000357570.5_Silent_p.R2239R	p.R2226R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6843	+			2288					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.6678C>T	CCDS55664.1																																																																																				0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		40	91	0	0	0	1	0	40	91					T	181767892	C	T	181767892	2	4	79	1	0	0	0	0	0	0	0	1	2549	755	27	1		1	CACNA1E	1	181767892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26540	181767892	67482729	1522	11839											
ZNF648	127665	broad.mit.edu	37	chr1	182026331	182026331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttggcggcgccgccgCgcgtctccgcggggctcagc	17	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	ENST00000339948.3	-	2	1022	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCGCCGCCGCGCGTCTCCGC	0.751																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(814-816)cGc>cAc		zinc finger protein 648							8	9	8					1																	182026331		2135	4137	6272	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026331C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.815G>A	1.37:g.182026331C>T	ENSP00000344129:p.Arg272His						p.R272H	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1022	-			272					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.815G>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152330	0.06585	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	2.55	-2.26	0.06867	.	.	.	.	.	T	0.01124	0.0037	N	0.00166	-1.94	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41980	-0.9478	9	0.02654	T	1	.	1.1703	0.01824	0.1593:0.2618:0.3501:0.2288	.	272	Q5T619	ZN648_HUMAN	H	272	ENSP00000344129:R272H	ENSP00000344129:R272H	R	-	2	0	ZNF648	180292954	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.012000	0.13287	-0.531000	0.06340	0.655000	0.94253	CGC		0.751	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		18	63	0	0	0	1	0	18	63					T	182026331	C	T	182026331	3	4	79	1	0	0	0	0	1	0	0	0	18116	768	27	1	895	1	ZNF648	1	182026331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258439	182026331	67224290	1523	11840											
ZNF648	127665	broad.mit.edu	37	chr1	182026618	182026618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgtctacacttttgtgCgcacagagatactttccatt	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(526-528)gcG>gcA		zinc finger protein 648							66	69	68					1																	182026618		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026618C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.528G>A	1.37:g.182026618C>T							p.A176A	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	735	-			176					B2RP16	Silent	SNP	ENST00000339948.3	37	c.528G>A	CCDS30952.1																																																																																				0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		44	208	0	0	0	1	0	44	208					T	182026618	C	T	182026618	2	4	79	1	0	0	0	0	0	0	0	1	18116	755	27	1		1	ZNF648	1	182026618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287	182026618	67224003	1524	11841											
RNASEL	6041	broad.mit.edu	37	chr1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcattaatctctatgtgCtcttgctccagaagcctctg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	262	2-5A binding (P-loop) 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(784-786)gaG>gaT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							82	78	79					1																	182555156		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555156C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.786G>T	1.37:g.182555156C>A	ENSP00000356530:p.Glu262Asp					RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1039	-			262			2-5A binding (P-loop) 2.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.786G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735904	0.30774	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.15	-4.82	0.03171	Ankyrin repeat-containing domain (4);	0.914573	0.09413	N	0.805560	T	0.34164	0.0888	N	0.12961	0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.16100	-1.0414	10	0.22109	T	0.4	-4.56	4.0995	0.10007	0.1394:0.5038:0.0876:0.2692	.	262;262;262	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	D	262	ENSP00000356530:E262D;ENSP00000411147:E262D;ENSP00000440844:E262D	ENSP00000356530:E262D	E	-	3	2	RNASEL	180821779	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.075000	0.03423	-0.543000	0.06240	0.557000	0.71058	GAG		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		41	399	1	0	8.16277e-20	1	9.1228e-20	41	399					A	182555156	C	A	182555156	3	1	79	1	0	0	0	0	1	0	0	0	13466	796	28	3	1463	3	RNASEL	1	182555156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528538	182555156	66695465	1525	11842											
RGS8	85397	broad.mit.edu	37	chr1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacatcaaaggaatctGcccacctcgtagcttcttct	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(160-162)gCa>gTa		regulator of G-protein signaling 8							170	170	170					1																	182635136		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182635136G>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.161C>T	1.37:g.182635136G>A	ENSP00000426289:p.Ala54Val					RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR	p.A54V			P57771	RGS8_HUMAN			5	418	-			54					B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.161C>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220884	0.58560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.32615	0.0835	L	0.61218	1.895	0.44862	D	0.997874	B;P	0.39424	0.398;0.673	B;B	0.37480	0.047;0.251	T	0.17228	-1.0376	10	0.66056	D	0.02	.	12.5654	0.56306	0.0:0.1673:0.8327:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	V	54;72;54;54;54	ENSP00000426289:A54V;ENSP00000258302:A72V;ENSP00000356528:A54V;ENSP00000356527:A54V	ENSP00000258302:A72V	A	-	2	0	RGS8	180901759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.191000	0.58372	2.561000	0.86390	0.655000	0.94253	GCA		0.408	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		113	574	0	0	0	1	0	113	574					A	182635136	G	A	182635136	3	1	79	1	0	0	0	0	1	0	0	0	13362	1319	46	2	393	2	RGS8	1	182635136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79980	182635136	66615485	1526	11843											
DHX9	1660	broad.mit.edu	37	chr1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttctggaagactgcattCagatgacccactttgttcct	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1738-1740)Cag>Tag		DEAH (Asp-Glu-Ala-His) box helicase 9							128	132	131					1																	182844012		1876	4109	5985	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182844012C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1738C>T	1.37:g.182844012C>T	ENSP00000356520:p.Gln580*						p.Q580*	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			16	1848	+			580					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.1738C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.829393	0.98513	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	580	.	ENSP00000356520:Q580X	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		138	421	0	0	0	1	0	138	421					T	182844012	C	T	182844012	4	4	79	1	0	0	0	0	0	1	0	0	4532	827	29	2	1796	2	DHX9	1	182844012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208876	182844012	66406609	1527	11844											
DHX9	1660	broad.mit.edu	37	chr1	182846018	182846018	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccataaacgatgttgtTtatgtcattgactcctgcaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	726	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGATGTTGTTTATGTCATTG	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2176-2178)gtT>gtG		DEAH (Asp-Glu-Ala-His) box helicase 9							70	63	65					1																	182846018		1839	4097	5936	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182846018T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2178T>G	1.37:g.182846018T>G							p.V726V	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			19	2288	+			726			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2178T>G	CCDS41444.1																																																																																				0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		49	190	0	0	0	1	0	49	190					G	182846018	T	G	182846018	2	3	79	1	0	0	0	0	0	0	0	1	4532	1828	64	4		4	DHX9	1	182846018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2006	182846018	66404603	1528	11845											
DHX9	1660	broad.mit.edu	37	chr1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgagcaacggaaagggCgagctggccgagtacggcct	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	764	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGGAAAGGGCGAGCTGGCCG	0.473																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2290-2292)Cga>Tga		DEAH (Asp-Glu-Ala-His) box helicase 9							94	89	91					1																	182847247		1940	4144	6084	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182847247C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2290C>T	1.37:g.182847247C>T	ENSP00000356520:p.Arg764*					DHX9_ENST00000485081.1_3'UTR	p.R764*	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			20	2400	+			764			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.2290C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420901	0.98803	.	.	ENSG00000135829	ENST00000367549	.	.	.	5.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.062	0.47953	0.4634:0.4233:0.1132:0.0	.	.	.	.	X	764	.	ENSP00000356520:R764X	R	+	1	2	DHX9	181113870	0.868000	0.29978	0.794000	0.32065	0.971000	0.66376	1.706000	0.37878	0.743000	0.32719	-0.169000	0.13324	CGA		0.473	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		60	283	0	0	0	1	0	60	283					T	182847247	C	T	182847247	4	4	79	1	0	0	0	0	0	1	0	0	4532	760	27	1	2364	1	DHX9	1	182847247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	182847247	66403374	1529	11846											
DHX9	1660	broad.mit.edu	37	chr1	182850546	182850546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttatcagtattccaagcCtgggatgatgctaggtatga	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	924					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTCCAAGCCTGGGATGATG	0.403																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2770-2772)gcC>gcT		DEAH (Asp-Glu-Ala-His) box helicase 9							143	133	137					1																	182850546		1859	4103	5962	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182850546C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2772C>T	1.37:g.182850546C>T						DHX9_ENST00000485081.1_3'UTR	p.A924A	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			23	2882	+			924					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2772C>T	CCDS41444.1																																																																																				0.403	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		70	820	0	0	0	1	0	70	820					T	182850546	C	T	182850546	2	4	79	1	0	0	0	0	0	0	0	1	4532	668	24	2		2	DHX9	1	182850546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3299	182850546	66400075	1530	11847											
DHX9	1660	broad.mit.edu	37	chr1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattctcaccactgaagggCgtaatgcacttatccacaaa	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3052-3054)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 9							140	119	125					1																	182852411		1905	4124	6029	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852411C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3052C>T	1.37:g.182852411C>T	ENSP00000356520:p.Arg1018Cys					DHX9_ENST00000485081.1_3'UTR	p.R1018C	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			25	3162	+			1018					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3052C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	DHX9	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT		0.393	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		71	317	0	0	0	1	0	71	317					T	182852411	C	T	182852411	3	4	79	1	0	0	0	0	1	0	0	0	4532	768	27	1	3146	1	DHX9	1	182852411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1865	182852411	66398210	1531	11848											
C1orf14	81626	broad.mit.edu	37	chr1	182869360	182869360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcatcttcaatttgggtgCtggaagaacctattaaatta	8	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182869360C>A	ENST00000367547.3	-	10	1956	c.1720G>T	c.(1720-1722)Gca>Tca	p.A574S	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A455S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	646										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATTTGGGTGCTGGAAGAACC	0.274																																						ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1720-1722)Gca>Tca		SHC SH2-domain binding protein 1-like							39	40	40					1																	182869360		2186	4291	6477	SO:0001583	missense	81626							g.chr1:182869360C>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1720G>T	1.37:g.182869360C>A	ENSP00000356518:p.Ala574Ser					SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A455S	p.A574S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN			10	1956	-			646					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1720G>T	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499865	0.64298	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.42131	0.98;0.98	5.24	3.37	0.38596	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.109437	0.40908	D	0.000997	T	0.42743	0.1216	N	0.22421	0.69	0.27230	N	0.959419	D;P;D	0.71674	0.998;0.746;0.998	D;P;D	0.79108	0.992;0.488;0.986	T	0.28618	-1.0038	10	0.12103	T	0.63	-7.8294	9.2861	0.37758	0.0:0.8282:0.0:0.1718	.	646;455;574	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	S	574;643;455	ENSP00000356518:A574S;ENSP00000397308:A455S	ENSP00000287709:A643S	A	-	1	0	SHCBP1L	181135983	0.976000	0.34144	0.997000	0.53966	0.997000	0.91878	1.494000	0.35616	0.605000	0.29947	0.585000	0.79938	GCA		0.274	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		18	104	1	0	3.32936e-07	1	3.45006e-07	18	104					A	182869360	C	A	182869360	3	1	79	1	0	0	0	0	1	0	0	0	2007	797	28	3	245	3	C1orf14	1	182869360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16949	182869360	66381261	1532	11849											
LAMC1	3915	broad.mit.edu	37	chr1	183093910	183093910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgcttgacgggagaatGcctgaagtgcatctataaca	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183093910G>A	ENST00000258341.4	+	14	2803	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	849	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACGGGAGAATGCCTGAAGTGC	0.502																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2545-2547)tGc>tAc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107	91	97					1																	183093910		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093910G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2546G>A	1.37:g.183093910G>A	ENSP00000258341:p.Cys849Tyr						p.C849Y	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			14	2803	+			849			Laminin EGF-like 8.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2546G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709702	0.89018	.	.	ENSG00000135862	ENST00000258341	D	0.94330	-3.4	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	849	P11047	LAMC1_HUMAN	Y	849	ENSP00000258341:C849Y	ENSP00000258341:C849Y	C	+	2	0	LAMC1	181360533	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.135000	0.94478	2.587000	0.87381	0.650000	0.86243	TGC		0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	295	0	0	0	1	0	8	295					A	183093910	G	A	183093910	3	1	79	1	0	0	0	0	1	0	0	0	8645	1319	46	2	2600	2	LAMC1	1	183093910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224550	183093910	66156711	1533	11850											
LAMC1	3915	broad.mit.edu	37	chr1	183103869	183103869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaattaaaagattatgaGgacctcagagaagatatgag	10	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183103869G>T	ENST00000258341.4	+	23	4181	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1308	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAGATTATGAGGACCTCAGAG	0.403																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3922-3924)gaG>gaT		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100	111	107					1																	183103869		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183103869G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3924G>T	1.37:g.183103869G>T	ENSP00000258341:p.Glu1308Asp						p.E1308D	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			23	4181	+			1308			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3924G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527988	0.44969	.	.	ENSG00000135862	ENST00000258341	T	0.77098	-1.07	5.64	1.6	0.23607	.	0.195971	0.53938	N	0.000060	T	0.64560	0.2609	L	0.54323	1.7	0.44295	D	0.997167	B	0.26318	0.146	B	0.24974	0.057	T	0.48864	-0.8997	10	0.17832	T	0.49	.	3.2277	0.06737	0.4213:0.0:0.4006:0.1781	.	1308	P11047	LAMC1_HUMAN	D	1308	ENSP00000258341:E1308D	ENSP00000258341:E1308D	E	+	3	2	LAMC1	181370492	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.490000	0.22403	0.297000	0.22615	0.655000	0.94253	GAG		0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		9	445	1	0	0.00448238	1	0.00451339	9	445					T	183103869	G	T	183103869	3	4	79	1	0	0	0	0	1	0	0	0	8645	991	35	3	4014	3	LAMC1	1	183103869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9959	183103869	66146752	1534	11851											
LAMC2	3918	broad.mit.edu	37	chr1	183194779	183194779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaataattggagcccccaGctgagttactttgagtatcg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183194779G>T	ENST00000264144.4	+	8	1055	c.990G>T	c.(988-990)caG>caT	p.Q330H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	330	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAGCCCCCAGCTGAGTTACT	0.393																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(988-990)caG>caT		laminin, gamma 2							108	119	115					1																	183194779		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183194779G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.990G>T	1.37:g.183194779G>T	ENSP00000264144:p.Gln330His					LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			8	1055	+			330			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.990G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872561	0.33069	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.36699	1.24;1.24	5.06	4.14	0.48551	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.395784	0.24094	N	0.041619	T	0.27205	0.0667	L	0.37630	1.12	0.46260	D	0.99895	B;B;B	0.20550	0.046;0.046;0.037	B;B;B	0.23018	0.043;0.042;0.025	T	0.05784	-1.0864	10	0.35671	T	0.21	.	8.4894	0.33091	0.0775:0.0:0.7704:0.1521	.	330;330;330	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	330	ENSP00000432063:Q330H;ENSP00000264144:Q330H	ENSP00000264144:Q330H	Q	+	3	2	LAMC2	181461402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.743000	0.47442	1.124000	0.41980	-0.136000	0.14681	CAG		0.393	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		13	790	1	0	0.0167234	1	0.0167961	13	790					T	183194779	G	T	183194779	3	4	79	1	0	0	0	0	1	0	0	0	8646	962	34	3	1020	3	LAMC2	1	183194779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90910	183194779	66055842	1535	11852											
LAMC2	3918	broad.mit.edu	37	chr1	183200178	183200178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccaggatttggtggCcccaactgtgagcatggagc	14	10	0	1	rs370673817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	599	Laminin EGF-like 8; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTGGTGGCCCCAACTGTG	0.498																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1795-1797)ggC>ggT		laminin, gamma 2							199	174	183					1																	183200178		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183200178C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1797C>T	1.37:g.183200178C>T						LAMC2_ENST00000493293.1_Silent_p.G599G	p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			12	1862	+			599			Laminin EGF-like 8; truncated.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.1797C>T	CCDS1352.1																																																																																				0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		64	321	0	0	0	1	0	64	321					T	183200178	C	T	183200178	2	4	79	1	0	0	0	0	0	0	0	1	8646	726	26	2		2	LAMC2	1	183200178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5399	183200178	66050443	1536	11853											
LAMC2	3918	broad.mit.edu	37	chr1	183212466	183212466	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggattctggctgatgtgaaGaacttggagaacattaggga	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1171	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGTGAAGAACTTGGAGA	0.522																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(3511-3513)aaG>aaA		laminin, gamma 2							105	102	103					1																	183212466		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183212466G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3513G>A	1.37:g.183212466G>A							p.K1171K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			23	3578	+			1171			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.3513G>A	CCDS1352.1																																																																																				0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		99	364	0	0	0	1	0	99	364					A	183212466	G	A	183212466	2	1	79	1	0	0	0	0	0	0	0	1	8646	933	33	2		2	LAMC2	1	183212466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12288	183212466	66038155	1537	11854											
SMG7	9887	broad.mit.edu	37	chr1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagaaaaacacctgtaaCtcaaaccccaactcaagcaa	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000347615.2	+	15	2023	c.1904C>T	c.(1903-1905)aCt>aTt	p.T635I	SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000367537.3_Missense_Mutation_p.T618I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	635					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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACACCTGTAACTCAAACCCCA	0.423																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1852-1854)aCt>aTt		SMG7 nonsense mediated mRNA decay factor							126	117	120					1																	183513549		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513549C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1904C>T	1.37:g.183513549C>T	ENSP00000340766:p.Thr635Ile					SMG7_ENST00000347615.2_Missense_Mutation_p.T635I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I	p.T618I			Q92540	SMG7_HUMAN			16	2048	+			635					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1853C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221780	0.79464	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.91	5.91	0.95273	.	0.095984	0.64402	D	0.000001	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.998;0.998;0.999;0.999;0.624	D;D;D;D;D;B	0.80764	0.991;0.987;0.987;0.994;0.991;0.206	T	0.61997	-0.6947	10	0.44086	T	0.13	-4.6888	20.2985	0.98592	0.0:1.0:0.0:0.0	.	593;618;547;589;635;589	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	547;618;593;547;635;589;589	ENSP00000407629:T547I;ENSP00000356507:T618I;ENSP00000426915:T593I;ENSP00000388390:T547I;ENSP00000340766:T635I;ENSP00000425133:T589I;ENSP00000421358:T589I	ENSP00000340766:T635I	T	+	2	0	SMG7	181780172	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.507000	0.66999	2.793000	0.96121	0.655000	0.94253	ACT		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		138	356	0	0	0	1	0	138	356					T	183513549	C	T	183513549	3	4	79	1	0	0	0	0	1	0	0	0	14848	565	20	2	1962	2	SMG7	1	183513549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301083	183513549	65737072	1538	11855											
NCF2	4688	broad.mit.edu	37	chr1	183532664	183532664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagtcttcatgactacCgtgtacttgtagtgcacctt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000367535.3	-	12	1334	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000413720.1_Silent_p.T316T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCATGACTACCGTGTACTTGT	0.552																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(946-948)acG>acA		neutrophil cytosolic factor 2							124	110	114					1																	183532664		2203	4300	6503	SO:0001819	synonymous_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532664C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1083G>A	1.37:g.183532664C>T						NCF2_ENST00000367535.3_Silent_p.T361T|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000469280.1_5'UTR	p.T316T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			11	1222	-			361					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.948G>A	CCDS1356.1																																																																																				0.552	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		109	590	0	0	0	1	0	109	590					T	183532664	C	T	183532664	2	4	79	1	0	0	0	0	0	0	0	1	10259	639	23	1		1	NCF2	1	183532664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19115	183532664	65717957	1539	11856											
NCF2	4688	broad.mit.edu	37	chr1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaacagcttgaactggaGccccaggatcttatagtcta	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000367535.3	-	3	591	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000413720.1_Missense_Mutation_p.L114I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	114					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGAACTGGAGCCCCAGGATC	0.517																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(340-342)Ctc>Atc		neutrophil cytosolic factor 2							104	103	104					1																	183546760		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546760G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.340C>A	1.37:g.183546760G>T	ENSP00000356505:p.Leu114Ile					NCF2_ENST00000367535.3_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I	p.L114I	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			3	614	-			114					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.340C>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199653	0.79015	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69040	-0.24;-0.27;-0.37;-0.24	5.56	4.64	0.57946	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.86028	2.79	0.22280	N	0.999237	P;P;P	0.49635	0.925;0.926;0.661	P;P;P	0.57620	0.824;0.471;0.717	T	0.74386	-0.3682	10	0.72032	D	0.01	-8.1757	12.9702	0.58508	0.0:0.0:0.8375:0.1625	.	114;114;114	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	114;142;114;114;114	ENSP00000356506:L114I;ENSP00000399294:L114I;ENSP00000407217:L114I;ENSP00000356505:L114I	ENSP00000356505:L114I	L	-	1	0	NCF2	181813383	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.967000	0.76079	1.320000	0.45209	0.655000	0.94253	CTC		0.517	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		66	354	1	0	5.32961e-40	1	6.45334e-40	66	354					T	183546760	G	T	183546760	3	4	79	1	0	0	0	0	1	0	0	0	10259	971	34	3	1292	3	NCF2	1	183546760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14096	183546760	65703861	1540	11857											
ARPC5	10092	broad.mit.edu	37	chr1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatattcatccacgtccAccttccggaagcgggccgac	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000462965.1_5'Flank	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	14					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632																																					Melanoma(136;1596 1789 3041 4830 41075)	ENST00000359856.6																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(40-42)gTg>gCg		actin related protein 2/3 complex, subunit 5, 16kDa							91	70	77					1																	183604754		2203	4300	6503	SO:0001583	missense	10092				actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr1:183604754A>G	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.41T>C	1.37:g.183604754A>G	ENSP00000352918:p.Val14Ala					ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A	p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN			1	107	-			14					A6NEC4|Q6PG42	Missense_Mutation	SNP	ENST00000359856.6	37	c.41T>C	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	A	35	5.562476	0.96527	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85197	2.74	0.58432	D	0.999996	P	0.51653	0.947	P	0.56865	0.808	T	0.82200	-0.0575	9	0.87932	D	0	-25.9632	14.6726	0.68956	1.0:0.0:0.0:0.0	.	14	O15511	ARPC5_HUMAN	A	14	.	ENSP00000294742:V14A	V	-	2	0	ARPC5	181871377	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.656000	0.91102	2.116000	0.64780	0.482000	0.46254	GTG		0.632	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		51	332	0	0	0	1	0	51	332					G	183604754	A	G	183604754	3	3	79	1	0	0	0	0	1	0	0	0	975	159	6	4	430	4	ARPC5	1	183604754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57994	183604754	65645867	1541	11858											
RGL1	23179	broad.mit.edu	37	chr1	183816811	183816811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggagaacctgctgacaGcttttggggacaatgacttt	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000360851.3	+	3	428	c.250G>T	c.(250-252)Gct>Tct	p.A84S	RGL1_ENST00000304685.4_Missense_Mutation_p.A119S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	84	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCTGACAGCTTTTGGGGA	0.473																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(355-357)Gct>Tct		ral guanine nucleotide dissociation stimulator-like 1							172	170	170					1																	183816811		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816811G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.250G>T	1.37:g.183816811G>T	ENSP00000354097:p.Ala84Ser					RGL1_ENST00000367531.1_Missense_Mutation_p.A119S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000360851.3_Missense_Mutation_p.A84S	p.A119S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			4	816	+			84			N-terminal Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.355G>T		.	.	.	.	.	.	.	.	.	.	G	28.4	4.913433	0.92178	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.51	5.51	0.81932	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	N	0.16708	0.43	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.994;0.998;0.997;0.997	T	0.48614	-0.9020	10	0.21014	T	0.42	.	19.7945	0.96474	0.0:0.0:1.0:0.0	.	84;82;84;119	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	119;119;82;84;84	ENSP00000303192:A119S;ENSP00000356501:A119S;ENSP00000438662:A82S;ENSP00000354097:A84S;ENSP00000437355:A84S	ENSP00000303192:A119S	A	+	1	0	RGL1	182083434	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	9.184000	0.94893	2.746000	0.94184	0.591000	0.81541	GCT		0.473	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		17	737	1	0	2.23348e-06	1	2.30073e-06	17	737					T	183816811	G	T	183816811	3	4	79	1	0	0	0	0	1	0	0	0	13326	971	34	3	365	3	RGL1	1	183816811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212057	183816811	65433810	1542	11859											
RGL1	23179	broad.mit.edu	37	chr1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcctgcaacagctaTtgcatgaccccagaccaaaa	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000360851.3	+	13	1582	c.1404T>G	c.(1402-1404)taT>taG	p.Y468*	RGL1_ENST00000304685.4_Nonsense_Mutation_p.Y503*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	468	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1507-1509)taT>taG		ral guanine nucleotide dissociation stimulator-like 1							129	128	128					1																	183874037		2203	4300	6503	SO:0001587	stop_gained	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183874037T>G	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1404T>G	1.37:g.183874037T>G	ENSP00000354097:p.Tyr468*					RGL1_ENST00000367531.1_Nonsense_Mutation_p.Y503*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000360851.3_Nonsense_Mutation_p.Y468*	p.Y503*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			14	1970	+			468					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	37	c.1509T>G		.	.	.	.	.	.	.	.	.	.	T	39	7.588588	0.98374	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.52	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1163	0.59301	0.0:0.4481:0.0:0.5519	.	.	.	.	X	503;503;466;273;468;439	.	ENSP00000303192:Y503X	Y	+	3	2	RGL1	182140660	0.937000	0.31787	0.475000	0.27278	0.568000	0.35870	0.027000	0.13621	-1.370000	0.02144	-1.140000	0.01884	TAT		0.448	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		170	473	0	0	0	1	0	170	473					G	183874037	T	G	183874037	4	3	79	1	0	0	0	0	0	1	0	0	13326	1500	52	4	1559	4	RGL1	1	183874037	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57226	183874037	65376584	1543	11860											
GLT25D2	23127	broad.mit.edu	37	chr1	183944281	183944281	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaagggctgcctgtcGtagtttcatcacatgggcaa	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183944281G>A	ENST00000361927.4	-	3	813	c.442C>T	c.(442-444)Cga>Tga	p.R148*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.R148*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	148					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCTGCCTGTCGTAGTTTCATC	0.423																																						ENST00000361927.4																			0											c.(442-444)Cga>Tga		collagen beta(1-O)galactosyltransferase 2							113	107	109					1																	183944281		2203	4300	6503	SO:0001587	stop_gained	23127							g.chr1:183944281G>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.442C>T	1.37:g.183944281G>A	ENSP00000354960:p.Arg148*					COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.R148*	p.R148*	NM_015101.2	NP_055916.1					3	813	-								O60327|Q9BZR0	Nonsense_Mutation	SNP	ENST00000361927.4	37	c.442C>T	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	41	8.564328	0.98866	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2816	14.8115	0.70000	0.0:0.0:0.8554:0.1446	.	.	.	.	X	148	.	ENSP00000354960:R148X	R	-	1	2	GLT25D2	182210904	0.986000	0.35501	0.987000	0.45799	0.996000	0.88848	1.479000	0.35453	2.583000	0.87209	0.650000	0.86243	CGA		0.423	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		14	450	0	0	0	1	0	14	450					A	183944281	G	A	183944281	4	1	79	1	0	0	0	0	0	1	0	0	6496	1153	40	1	1478	1	GLT25D2	1	183944281	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70244	183944281	65306340	1544	11861											
FAM129A	116496	broad.mit.edu	37	chr1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgacatttaggagcagctcCtctctgataggcctggggag	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(331-333)Gga>Tga		family with sequence similarity 129, member A							70	71	71					1																	184859344		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184859344C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.331G>T	1.37:g.184859344C>A	ENSP00000356481:p.Gly111*						p.G111*	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			4	524	-			111					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.331G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.386892	0.97524	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.069	12.7785	0.57464	0.0:0.8357:0.1643:0.0	.	.	.	.	X	111	.	ENSP00000356481:G111X	G	-	1	0	FAM129A	183125967	0.993000	0.37304	0.989000	0.46669	0.450000	0.32258	3.074000	0.50065	1.387000	0.46486	0.655000	0.94253	GGA		0.433	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			80	201	1	0	2.43199e-30	1	2.85193e-30	80	201					A	184859344	C	A	184859344	4	1	79	1	0	0	0	0	0	1	0	0	5457	690	24	3	2499	3	FAM129A	1	184859344	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	915063	184859344	64391277	1545	11862											
C1orf26	54823	broad.mit.edu	37	chr1	185153444	185153444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgaatcatctcaaatTtgttagaattttgaagacaa	6	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185153444T>C	ENST00000367500.4	+	8	1373	c.1208T>C	c.(1207-1209)tTt>tCt	p.F403S	SWT1_ENST00000367501.3_Missense_Mutation_p.F403S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	403	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CATCTCAAATTTGTTAGAATT	0.269																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1207-1209)tTt>tCt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							45	48	47					1																	185153444		2189	4278	6467	SO:0001583	missense	54823							g.chr1:185153444T>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1208T>C	1.37:g.185153444T>C	ENSP00000356470:p.Phe403Ser					SWT1_ENST00000367501.3_Missense_Mutation_p.F403S	p.F403S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			8	1373	+			403			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1208T>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944107	0.73672	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20738	2.05;2.05	5.05	5.05	0.67936	Nucleotide binding protein, PINc (1);	0.059804	0.64402	D	0.000002	T	0.41119	0.1145	L	0.56199	1.76	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.18935	-1.0321	10	0.52906	T	0.07	.	13.6594	0.62357	0.0:0.0:0.0:1.0	.	403	Q5T5J6	SWT1_HUMAN	S	403	ENSP00000356471:F403S;ENSP00000356470:F403S	ENSP00000356470:F403S	F	+	2	0	SWT1	183420067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.118000	0.64673	1.999000	0.58509	0.528000	0.53228	TTT		0.269	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		50	102	0	0	0	1	0	50	102					C	185153444	T	C	185153444	3	2	79	1	0	0	0	0	1	0	0	0	2042	1841	64	4	1234	4	C1orf26	1	185153444	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	294100	185153444	64097177	1546	11863											
C1orf26	54823	broad.mit.edu	37	chr1	185171900	185171900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacacagatgtgtgtcatcaGccttgtattcctaagcaaca	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171900G>T	ENST00000367500.4	+	11	1803	c.1638G>T	c.(1636-1638)caG>caT	p.Q546H	SWT1_ENST00000367501.3_Missense_Mutation_p.Q546H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	546										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGTGTCATCAGCCTTGTATTC	0.308																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1636-1638)caG>caT		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							94	95	95					1																	185171900		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185171900G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1638G>T	1.37:g.185171900G>T	ENSP00000356470:p.Gln546His					SWT1_ENST00000367501.3_Missense_Mutation_p.Q546H	p.Q546H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			11	1803	+			546					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1638G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183600	0.57800	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	5.49	2.44	0.29823	.	0.567042	0.19708	N	0.107866	T	0.32102	0.0818	M	0.68317	2.08	0.31268	N	0.692134	D	0.64830	0.994	P	0.59012	0.85	T	0.25641	-1.0126	10	0.38643	T	0.18	.	4.8218	0.13394	0.2525:0.156:0.5915:0.0	.	546	Q5T5J6	SWT1_HUMAN	H	546	ENSP00000356471:Q546H;ENSP00000356470:Q546H	ENSP00000356470:Q546H	Q	+	3	2	SWT1	183438523	0.715000	0.27946	1.000000	0.80357	0.870000	0.49936	0.248000	0.18198	0.815000	0.34398	-0.123000	0.14984	CAG		0.308	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		15	357	1	0	6.94344e-10	1	7.33246e-10	15	357					T	185171900	G	T	185171900	3	4	79	1	0	0	0	0	1	0	0	0	2042	962	34	3	1676	3	C1orf26	1	185171900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18456	185171900	64078721	1547	11864											
C1orf26	54823	broad.mit.edu	37	chr1	185171911	185171911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcatcagccttgtattcCtaagcaacagttgaaagcag	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171911C>A	ENST00000367500.4	+	11	1814	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	SWT1_ENST00000367501.3_Missense_Mutation_p.P550H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	550										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCTTGTATTCCTAAGCAACAG	0.313																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1648-1650)cCt>cAt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							86	87	87					1																	185171911		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185171911C>A	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1649C>A	1.37:g.185171911C>A	ENSP00000356470:p.Pro550His					SWT1_ENST00000367501.3_Missense_Mutation_p.P550H	p.P550H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			11	1814	+			550					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1649C>A	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785887	0.31593	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17370	2.28;2.28	5.49	5.49	0.81192	.	0.863528	0.10733	N	0.640423	T	0.11196	0.0273	N	0.08118	0	0.20307	N	0.999918	B	0.14438	0.01	B	0.06405	0.002	T	0.14420	-1.0473	10	0.59425	D	0.04	.	12.9453	0.58369	0.0:0.8373:0.1627:0.0	.	550	Q5T5J6	SWT1_HUMAN	H	550	ENSP00000356471:P550H;ENSP00000356470:P550H	ENSP00000356470:P550H	P	+	2	0	SWT1	183438534	1.000000	0.71417	0.920000	0.36463	0.707000	0.40811	2.423000	0.44705	2.736000	0.93811	0.655000	0.94253	CCT		0.313	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		66	302	1	0	5.96624e-29	1	6.96048e-29	66	302					A	185171911	C	A	185171911	3	1	79	1	0	0	0	0	1	0	0	0	2042	681	24	3	1687	3	C1orf26	1	185171911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	185171911	64078710	1548	11865											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatttaacgtgagaaattCcatgaggatcactatcacta	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(205-207)gGa>gAa		influenza virus NS1A binding protein							53	55	54					1																	185278210		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278210C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.206G>A	1.37:g.185278210C>T	ENSP00000356468:p.Gly69Glu					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E	p.G69E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			4	828	-			69			BTB.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.206G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830580	0.91036	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66460	-0.21;-0.21	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.144833	0.64402	D	0.000007	T	0.73666	0.3616	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71774	-0.4491	10	0.35671	T	0.21	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	69	Q9Y6Y0	NS1BP_HUMAN	E	69	ENSP00000356468:G69E;ENSP00000356467:G69E	ENSP00000356467:G69E	G	-	2	0	IVNS1ABP	183544833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.711000	0.84669	2.679000	0.91253	0.591000	0.81541	GGA		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		72	215	0	0	0	1	0	72	215					T	185278210	C	T	185278210	3	4	79	1	0	0	0	0	1	0	0	0	7960	855	30	2	1770	2	IVNS1ABP	1	185278210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106299	185278210	63972411	1549	11866											
HMCN1	83872	broad.mit.edu	37	chr1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccctgctctgttgacagtCttttgccctttaccttgagc	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	456	Ig-like C2-type 1.				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)			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						TGTTGACAGTCTTTTGCCCTT	0.423																																						ENST00000271588.4																			0				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						c.(1366-1368)Ctt>Att		hemicentin 1							153	134	140					1																	185894259		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185894259C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1366C>A	1.37:g.185894259C>A	ENSP00000271588:p.Leu456Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			9	1595	+			456			Ig-like C2-type 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1366C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009139	0.54361	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39056	1.1;1.1	5.89	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129749	0.53938	D	0.000058	T	0.33469	0.0864	L	0.50333	1.59	0.42086	D	0.99127	P	0.41393	0.748	B	0.37346	0.247	T	0.05533	-1.0879	10	0.20519	T	0.43	.	11.5853	0.50914	0.0:0.8074:0.0:0.1926	.	456	Q96RW7	HMCN1_HUMAN	I	456	ENSP00000271588:L456I;ENSP00000356462:L456I	ENSP00000271588:L456I	L	+	1	0	HMCN1	184160882	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	0.894000	0.28350	0.396000	0.25283	0.655000	0.94253	CTT		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		22	289	1	0	2.89027e-11	1	3.08062e-11	22	289					A	185894259	C	A	185894259	3	1	79	1	0	0	0	0	1	0	0	0	7250	913	32	3	1400	3	HMCN1	1	185894259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616049	185894259	63356362	1550	11867											
HMCN1	83872	broad.mit.edu	37	chr1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatcttggaagatggcaCattgctggttattgcttctg	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1321	Ig-like C2-type 10.				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)			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						GAAGATGGCACATTGCTGGTT	0.418																																						ENST00000271588.4																			0				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						c.(3961-3963)aCa>aTa		hemicentin 1							146	133	137					1																	185969264		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969264C>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.3962C>T	1.37:g.185969264C>T	ENSP00000271588:p.Thr1321Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			26	4191	+			1321			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3962C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316399	0.23908	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.46	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313688	0.37715	N	0.001972	T	0.59838	0.2223	L	0.51422	1.61	0.09310	N	1	P	0.37594	0.601	B	0.39876	0.312	T	0.47812	-0.9088	10	0.24483	T	0.36	.	11.1561	0.48489	0.0:0.6935:0.2396:0.0669	.	1321	Q96RW7	HMCN1_HUMAN	I	1321	ENSP00000271588:T1321I;ENSP00000356462:T1321I	ENSP00000271588:T1321I	T	+	2	0	HMCN1	184235887	0.056000	0.20664	0.074000	0.20217	0.277000	0.26821	2.903000	0.48711	0.635000	0.30488	0.558000	0.71614	ACA		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		65	244	0	0	0	1	0	65	244					T	185969264	C	T	185969264	3	4	79	1	0	0	0	0	1	0	0	0	7250	478	17	2	4064	2	HMCN1	1	185969264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75005	185969264	63281357	1551	11868											
HMCN1	83872	broad.mit.edu	37	chr1	185992272	185992272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaacagcacattcaActgcatgttcatggtaatgt	7	9	2	0	rs201746135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1912	Ig-like C2-type 16.				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)			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						AGCACATTCAACTGCATGTTC	0.373																																						ENST00000271588.4																			0				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						c.(5734-5736)caA>caG		hemicentin 1							114	110	111					1																	185992272		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185992272A>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.5736A>G	1.37:g.185992272A>G						HMCN1_ENST00000367492.2_Silent_p.Q1912Q	p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			36	5965	+			1912			Ig-like C2-type 16.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.5736A>G	CCDS30956.1																																																																																				0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		92	324	0	0	0	1	0	92	324					G	185992272	A	G	185992272	2	3	79	1	0	0	0	0	0	0	0	1	7250	40	2	4		4	HMCN1	1	185992272	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23008	185992272	63258349	1552	11869											
HMCN1	83872	broad.mit.edu	37	chr1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtggtattccacccccaAatctcatctggaagaagaaa	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2227	Ig-like C2-type 20.				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)			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						TCCACCCCCAAATCTCATCTG	0.338																																						ENST00000271588.4																			0				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						c.(6679-6681)Aat>Cat		hemicentin 1							97	93	94					1																	186022185		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022185A>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.6679A>C	1.37:g.186022185A>C	ENSP00000271588:p.Asn2227His					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			43	6908	+			2227			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6679A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974850	0.34848	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.3	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220495	0.53938	D	0.000048	T	0.48995	0.1531	L	0.31420	0.93	0.24021	N	0.996143	B	0.11235	0.004	B	0.13407	0.009	T	0.38001	-0.9681	10	0.45353	T	0.12	.	5.1565	0.15038	0.638:0.1428:0.2192:0.0	.	2227	Q96RW7	HMCN1_HUMAN	H	2227	ENSP00000271588:N2227H;ENSP00000356462:N2227H	ENSP00000271588:N2227H	N	+	1	0	HMCN1	184288808	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.908000	0.56355	0.273000	0.22049	0.455000	0.32223	AAT		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		73	377	0	0	0	1	0	73	377					C	186022185	A	C	186022185	3	2	79	1	0	0	0	0	1	0	0	0	7250	14	1	4	6849	4	HMCN1	1	186022185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29913	186022185	63228436	1553	11870											
HMCN1	83872	broad.mit.edu	37	chr1	186024739	186024739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgtatctgacacaggCcgttatgtgtgtgttgctgt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2359	Ig-like C2-type 21.				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)			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						CTGACACAGGCCGTTATGTGT	0.428																																						ENST00000271588.4																			0				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						c.(7075-7077)ggC>ggT		hemicentin 1							156	138	144					1																	186024739		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024739C>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.7077C>T	1.37:g.186024739C>T						HMCN1_ENST00000367492.2_Silent_p.G2359G	p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7306	+			2359			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7077C>T	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		128	439	0	0	0	1	0	128	439					T	186024739	C	T	186024739	2	4	79	1	0	0	0	0	0	0	0	1	7250	726	26	2		2	HMCN1	1	186024739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	186024739	63225882	1554	11871											
HMCN1	83872	broad.mit.edu	37	chr1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcttcagtcttaatGtatttggtaggtgtgggctt	14	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2567					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)			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						CAGTCTTAATGTATTTGGTAG	0.398																																						ENST00000271588.4																			0				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						c.(7699-7701)Gta>Ata		hemicentin 1							63	61	62					1																	186034555		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186034555G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7699G>A	1.37:g.186034555G>A	ENSP00000271588:p.Val2567Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			49	7928	+			2567					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7699G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369318	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74209	-0.82;-0.82	5.55	5.55	0.83447	Immunoglobulin I-set (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.51914	1.62	0.80722	D	1	D	0.56035	0.974	D	0.73380	0.98	T	0.83154	-0.0102	10	0.49607	T	0.09	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	2567	Q96RW7	HMCN1_HUMAN	I	2567	ENSP00000271588:V2567I;ENSP00000356462:V2567I	ENSP00000271588:V2567I	V	+	1	0	HMCN1	184301178	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GTA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	122	0	0	0	1	0	18	122					A	186034555	G	A	186034555	3	1	79	1	0	0	0	0	1	0	0	0	7250	1377	48	2	7893	2	HMCN1	1	186034555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9816	186034555	63216066	1555	11872											
HMCN1	83872	broad.mit.edu	37	chr1	186039890	186039890	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacaaggatggacagGccagtcacaacttttttcat	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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)			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						GGATGGACAGGCCAGTCACAA	0.378																																						ENST00000271588.4																			0				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						c.e52+1		hemicentin 1							111	105	107					1																	186039890		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186039890G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8139+1G>A	1.37:g.186039890G>A						HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			52	8368	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198072	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184306513	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.566000	0.98157	2.687000	0.91594	0.655000	0.94253	.		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	21	459	0	0	0	1	0	21	459					A	186039890	G	A	186039890	5	1	79	1	0	0	0	0	0	0	1	0	7250	1217	42	2	8346	2	HMCN1	1	186039890	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	186039890	63210731	1556	11873											
HMCN1	83872	broad.mit.edu	37	chr1	186052023	186052023	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatactcaaataacagatatCggcaggtatgtgtgtgttgc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				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)			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						TAACAGATATCGGCAGGTATG	0.328																																						ENST00000271588.4																			0				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						c.(8812-8814)atC>atT		hemicentin 1							52	58	56					1																	186052023		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186052023C>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.8814C>T	1.37:g.186052023C>T						HMCN1_ENST00000367492.2_Silent_p.I2938I	p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			57	9043	+			2938			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8814C>T	CCDS30956.1																																																																																				0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	192	0	0	0	1	0	28	192					T	186052023	C	T	186052023	2	4	79	1	0	0	0	0	0	0	0	1	7250	874	31	1		1	HMCN1	1	186052023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12133	186052023	63198598	1557	11874											
HMCN1	83872	broad.mit.edu	37	chr1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggagggaaaagcccagAaatattactttctttcaatt	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3235	Ig-like C2-type 30.				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)			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						AAAAGCCCAGAAATATTACTT	0.328																																						ENST00000271588.4																			0				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						c.(9703-9705)Aaa>Caa		hemicentin 1							55	59	57					1																	186057863		2203	4298	6501	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057863A>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.9703A>C	1.37:g.186057863A>C	ENSP00000271588:p.Lys3235Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			63	9932	+			3235			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9703A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488294	0.64074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73867	-0.3847	10	0.25106	T	0.35	.	15.3835	0.74679	1.0:0.0:0.0:0.0	.	3235	Q96RW7	HMCN1_HUMAN	Q	3235	ENSP00000271588:K3235Q;ENSP00000356462:K3235Q	ENSP00000271588:K3235Q	K	+	1	0	HMCN1	184324486	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	8.923000	0.92808	2.028000	0.59812	0.528000	0.53228	AAA		0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	96	0	0	0	1	0	17	96					C	186057863	A	C	186057863	3	2	79	1	0	0	0	0	1	0	0	0	7250	247	9	4	9953	4	HMCN1	1	186057863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5840	186057863	63192758	1558	11875											
HMCN1	83872	broad.mit.edu	37	chr1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaccatgtgaagcaacaGggacacccagtcctttcatt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4013	Ig-like C2-type 39.				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)			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						TGAAGCAACAGGGACACCCAG	0.393																																						ENST00000271588.4																			0				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						c.(12037-12039)Ggg>Agg		hemicentin 1							100	94	96					1																	186088957		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088957G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12037G>A	1.37:g.186088957G>A	ENSP00000271588:p.Gly4013Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			79	12266	+			4013			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12037G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718089	0.89205	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	15.5677	0.76306	0.0:0.1373:0.8627:0.0	.	4013	Q96RW7	HMCN1_HUMAN	R	4013	ENSP00000271588:G4013R;ENSP00000356462:G4013R	ENSP00000271588:G4013R	G	+	1	0	HMCN1	184355580	1.000000	0.71417	0.787000	0.31911	0.896000	0.52359	7.807000	0.86032	2.830000	0.97506	0.585000	0.79938	GGG		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		95	269	0	0	0	1	0	95	269					A	186088957	G	A	186088957	3	1	79	1	0	0	0	0	1	0	0	0	7250	1000	35	2	12351	2	HMCN1	1	186088957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31094	186088957	63161664	1559	11876											
HMCN1	83872	broad.mit.edu	37	chr1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagatacacacactgTcagcctgactgtgcatgttc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4252	Ig-like C2-type 41.				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)			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						ACACACACTGTCAGCCTGACT	0.388																																						ENST00000271588.4																			0				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						c.(12754-12756)gTc>gCc		hemicentin 1							128	114	119					1																	186097274		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097274T>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.12755T>C	1.37:g.186097274T>C	ENSP00000271588:p.Val4252Ala					HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			83	12984	+			4252			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12755T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745359	0.49151	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436422	0.26474	N	0.024162	T	0.49813	0.1579	N	0.20610	0.595	0.37196	D	0.904143	B	0.31968	0.349	B	0.38803	0.282	T	0.51100	-0.8748	10	0.09590	T	0.72	.	15.3567	0.74431	0.0:0.0:0.0:1.0	.	4252	Q96RW7	HMCN1_HUMAN	A	4252	ENSP00000271588:V4252A;ENSP00000356462:V4252A	ENSP00000271588:V4252A	V	+	2	0	HMCN1	184363897	0.998000	0.40836	0.908000	0.35775	0.988000	0.76386	3.908000	0.56355	2.028000	0.59812	0.482000	0.46254	GTC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		106	319	0	0	0	1	0	106	319					C	186097274	T	C	186097274	3	2	79	1	0	0	0	0	1	0	0	0	7250	1667	58	4	13085	4	HMCN1	1	186097274	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8317	186097274	63153347	1560	11877											
HMCN1	83872	broad.mit.edu	37	chr1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaatgcgaagggagTgatgtccagagtgatttttg	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4742	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						GCGAAGGGAGTGATGTCCAGA	0.478																																						ENST00000271588.4																			0				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						c.(14224-14226)agT>agG		hemicentin 1							121	113	115					1																	186113795		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186113795T>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.14226T>G	1.37:g.186113795T>G	ENSP00000271588:p.Ser4742Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			91	14455	+			4742			TSP type-1 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14226T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177581	0.38413	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.82	2.16	0.27623	.	0.384313	0.33161	N	0.005202	T	0.28962	0.0719	L	0.28054	0.825	0.31056	N	0.714655	B	0.09022	0.002	B	0.12156	0.007	T	0.14062	-1.0486	10	0.48119	T	0.1	.	3.8691	0.09029	0.2546:0.1803:0.0:0.5651	.	4742	Q96RW7	HMCN1_HUMAN	R	4742	ENSP00000271588:S4742R;ENSP00000356462:S4742R	ENSP00000271588:S4742R	S	+	3	2	HMCN1	184380418	0.025000	0.19082	0.921000	0.36526	0.885000	0.51271	0.026000	0.13599	0.419000	0.25927	-0.344000	0.07964	AGT		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		81	366	0	0	0	1	0	81	366					G	186113795	T	G	186113795	3	3	79	1	0	0	0	0	1	0	0	0	7250	1693	59	4	14588	4	HMCN1	1	186113795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16521	186113795	63136826	1561	11878											
PRG4	10216	broad.mit.edu	37	chr1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaaccaccaaacaagAagaagactaagaaagttata	5	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	143					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)			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						ACCAAACAAGAAGAAGACTAA	0.398																																						ENST00000445192.2																			0				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						c.(427-429)Aag>Cag		proteoglycan 4							157	150	153					1																	186273347		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273347A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.427A>C	1.37:g.186273347A>C	ENSP00000399679:p.Lys143Gln					PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q	p.K143Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			5	472	+			143					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.427A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086542	0.55861	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.07688	3.17;3.27;3.19;3.22	5.3	5.3	0.74995	.	0.156884	0.29948	N	0.010787	T	0.17238	0.0414	L	0.29908	0.895	0.29742	N	0.837011	D;D	0.71674	0.997;0.998	D;D	0.68943	0.915;0.961	T	0.01608	-1.1313	10	0.87932	D	0	.	12.7893	0.57523	1.0:0.0:0.0:0.0	.	143;102	Q92954;Q92954-2	PRG4_HUMAN;.	Q	143;102;102;143	ENSP00000356456:K143Q;ENSP00000356454:K102Q;ENSP00000356453:K102Q;ENSP00000399679:K143Q	ENSP00000356453:K102Q	K	+	1	0	PRG4	184539970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.955000	0.56715	2.006000	0.58801	0.477000	0.44152	AAG		0.398	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		43	283	0	0	0	1	0	43	283					C	186273347	A	C	186273347	3	2	79	1	0	0	0	0	1	0	0	0	12528	247	9	4	441	4	PRG4	1	186273347	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	159552	186273347	62977274	1562	11879											
PRG4	10216	broad.mit.edu	37	chr1	186277192	186277192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactacccctaaggggActgctccaactaccctcaag	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277192A>C	ENST00000445192.2	+	7	2386	c.2341A>C	c.(2341-2343)Act>Cct	p.T781P	PRG4_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367483.4_Missense_Mutation_p.T740P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	781	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			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						CCCTAAGGGGACTGCTCCAAC	0.607																																						ENST00000445192.2																			0				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						c.(2341-2343)Act>Cct		proteoglycan 4							178	200	193					1																	186277192		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277192A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2341A>C	1.37:g.186277192A>C	ENSP00000399679:p.Thr781Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367483.4_Missense_Mutation_p.T740P	p.T781P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2386	+			781			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2341A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	2.321	-0.355653	0.05138	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05139	3.49;3.6;3.49;3.6	1.98	-3.96	0.04106	.	0.207690	0.23756	N	0.044868	T	0.01320	0.0043	N	0.01188	-0.97	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.35375	-0.9791	9	.	.	.	.	0.9912	0.01457	0.4995:0.1573:0.1362:0.207	.	647;688;781;740	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	738;647;740;688;781	ENSP00000356456:T738P;ENSP00000356453:T740P;ENSP00000356455:T688P;ENSP00000399679:T781P	.	T	+	1	0	PRG4	184543815	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-2.259000	0.01178	-1.373000	0.02134	-0.554000	0.04202	ACT		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		95	1141	0	0	0	1	0	95	1141					C	186277192	A	C	186277192	3	2	79	1	0	0	0	0	1	0	0	0	12528	275	10	4	2363	4	PRG4	1	186277192	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3845	186277192	62973429	1563	11880											
PRG4	10216	broad.mit.edu	37	chr1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagacaagacaacagaaagaGacttacgtactacacctgaa	7	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	923					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)			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						AACAGAAAGAGACTTACGTAC	0.413																																						ENST00000445192.2																			0				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						c.(2767-2769)Gac>Aac		proteoglycan 4							213	218	217					1																	186277618		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277618G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2767G>A	1.37:g.186277618G>A	ENSP00000399679:p.Asp923Asn					PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N	p.D923N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2812	+			923					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2767G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038064	0.19669	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.46;3.52;3.58;3.47;3.58	3.13	0.853	0.19001	.	0.804728	0.10377	U	0.681971	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44659	0.84;0.84;0.753;0.84	P;P;B;P	0.50314	0.637;0.637;0.433;0.637	T	0.34700	-0.9818	10	0.15499	T	0.54	.	3.6248	0.08109	0.2757:0.0:0.536:0.1882	.	789;830;923;882	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	880;452;789;882;830;923	ENSP00000356456:D880N;ENSP00000356454:D452N;ENSP00000356453:D882N;ENSP00000356455:D830N;ENSP00000399679:D923N	ENSP00000356452:D789N	D	+	1	0	PRG4	184544241	0.000000	0.05858	0.654000	0.29608	0.191000	0.23601	-0.096000	0.11059	0.311000	0.23014	0.423000	0.28283	GAC		0.413	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		168	517	0	0	0	1	0	168	517					A	186277618	G	A	186277618	3	1	79	1	0	0	0	0	1	0	0	0	12528	942	33	2	2789	2	PRG4	1	186277618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	186277618	62973003	1564	11881											
TPR	7175	broad.mit.edu	37	chr1	186307228	186307228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtccaattttcttaacTtgagtaatagttttgacttt	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1433					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)			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)		TTTTCTTAACTTGAGTAATAG	0.303			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(4297-4299)caA>caG		translocated promoter region, nuclear basket protein							144	129	134					1																	186307228		1819	4071	5890	SO:0001819	synonymous_variant	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.chr1:186307228T>C	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.4299A>G	1.37:g.186307228T>C							p.Q1433Q	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4595	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1433					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.4299A>G	CCDS41446.1																																																																																				0.303	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		76	207	0	0	0	1	0	76	207					C	186307228	T	C	186307228	2	2	79	1	0	0	0	0	0	0	0	1	16469	1606	56	4		4	TPR	1	186307228	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29610	186307228	62943393	1565	11882											
TPR	7175	broad.mit.edu	37	chr1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgagcattttttaatagttCttttgtgttaagatgaagat	8	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	892					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)			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)		TTTAATAGTTCTTTTGTGTTA	0.318			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(2674-2676)Gaa>Taa		translocated promoter region, nuclear basket protein							186	170	175					1																	186319457		1821	4081	5902	SO:0001587	stop_gained	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.chr1:186319457C>A	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.2674G>T	1.37:g.186319457C>A	ENSP00000356448:p.Glu892*						p.E892*	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	21	2970	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	892					Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	c.2674G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	44	10.646956	0.99444	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	892	.	ENSP00000356448:E892X	E	-	1	0	TPR	184586080	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.310000	0.72830	2.797000	0.96272	0.561000	0.74099	GAA		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		31	167	1	0	1.16021e-09	1	1.22295e-09	31	167					A	186319457	C	A	186319457	4	1	79	1	0	0	0	0	0	1	0	0	16469	922	32	3	4541	3	TPR	1	186319457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12229	186319457	62931164	1566	11883											
TPR	7175	broad.mit.edu	37	chr1	186330803	186330803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcctctactgcccgggtTagttcattgctctttgcttc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.4	-	9	1205	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	303					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)			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)		CTGCCCGGGTTAGTTCATTGC	0.353			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(907-909)ctA>ctG		translocated promoter region, nuclear basket protein							149	138	141					1																	186330803		1845	4092	5937	SO:0001819	synonymous_variant	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.chr1:186330803T>C	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.909A>G	1.37:g.186330803T>C						TPR_ENST00000474852.1_5'UTR	p.L303L	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	9	1205	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	303					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.909A>G	CCDS41446.1																																																																																				0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		19	611	0	0	0	1	0	19	611					C	186330803	T	C	186330803	2	2	79	1	0	0	0	0	0	0	0	1	16469	1741	61	4		4	TPR	1	186330803	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11346	186330803	62919818	1567	11884											
OCLM	10896	broad.mit.edu	37	chr1	186370258	186370258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttaaaaatcctttaTaaaagtggtattatatggct	5	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	27					visual perception (GO:0007601)												AAATCCTTTATAAAAGTGGTA	0.323																																						ENST00000574641.1																			0											c.(79-81)taT>taC		oculomedin							114	108	110					1																	186370258		1796	4068	5864	SO:0001819	synonymous_variant	10896				visual perception			g.chr1:186370258T>C	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.81T>C	1.37:g.186370258T>C						C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron	p.Y27Y	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN			1	555	+			27					Q4G0F9	Silent	SNP	ENST00000574641.1	37	c.81T>C	CCDS58051.1																																																																																				0.323	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		109	283	0	0	0	1	0	109	283					C	186370258	T	C	186370258	2	2	79	1	0	0	0	0	0	0	0	1	10861	1413	49	4		4	OCLM	1	186370258	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39455	186370258	62880363	1568	11885											
PTGS2	5743	broad.mit.edu	37	chr1	186645084	186645084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgggtaattccatgttcCagcaatatagagttgttgta	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	401					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTCCATGTTCCAGCAATATAG	0.388																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1201-1203)ctG>ctA		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						127	123	124					1																	186645084		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645084C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1203G>A	1.37:g.186645084C>T						PTGS2_ENST00000490885.2_5'UTR	p.L401L	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			8	1339	-			401					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.1203G>A	CCDS1371.1																																																																																				0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		103	312	0	0	0	1	0	103	312					T	186645084	C	T	186645084	2	4	79	1	0	0	0	0	0	0	0	1	12804	581	21	2		2	PTGS2	1	186645084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274826	186645084	62605537	1569	11886											
FAM5C	339479	broad.mit.edu	37	chr1	190067938	190067938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttctattcgtctgtccGttttctgcagcagatatttc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:190067938G>A	ENST00000367462.3	-	8	1742	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	BRINP3_ENST00000534846.1_Missense_Mutation_p.T402M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	504					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCGTCTGTCCGTTTTCTGCAG	0.498																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1510-1512)aCg>aTg									160	154	156					1																	190067938		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067938G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1511C>T	1.37:g.190067938G>A	ENSP00000356432:p.Thr504Met					FAM5C_ENST00000534846.1_Missense_Mutation_p.T402M|FAM5C_ENST00000484105.1_5'UTR	p.T504M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1742	-	Prostate(682;0.198)		504					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1511C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475662	0.12521	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.35973	1.28;1.28	5.75	4.84	0.62591	.	0.238609	0.42172	D	0.000755	T	0.10423	0.0255	N	0.01576	-0.805	0.09310	N	1	P;P	0.47106	0.89;0.606	B;B	0.35413	0.202;0.062	T	0.07214	-1.0784	10	0.17369	T	0.5	.	7.8088	0.29219	0.0816:0.0:0.7589:0.1595	.	402;504	B7Z260;Q76B58	.;FAM5C_HUMAN	M	504;402	ENSP00000356432:T504M;ENSP00000438022:T402M	ENSP00000356432:T504M	T	-	2	0	FAM5C	188334561	0.954000	0.32549	0.070000	0.20053	0.918000	0.54935	3.108000	0.50337	1.437000	0.47472	-0.216000	0.12614	ACG		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		224	622	0	0	0	1	0	224	622					A	190067938	G	A	190067938	3	1	79	1	0	0	0	0	1	0	0	0	5619	1145	40	1	793	1	FAM5C	1	190067938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3422854	190067938	59182683	1570	11887											
RGS1	5996	broad.mit.edu	37	chr1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacatctggaatctggaAtgaaatcttccaagtccaag	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	65					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338																																						ENST00000367459.3																			0				kidney(8)|large_intestine(1)|lung(13)	22						c.(193-195)Atg>Gtg		regulator of G-protein signaling 1							78	78	78					1																	192545470		2203	4297	6500	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192545470A>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.193A>G	1.37:g.192545470A>G	ENSP00000356429:p.Met65Val					RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN			2	259	+		Breast(1374;0.188)	65					B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.193A>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773599	0.31411	.	.	ENSG00000090104	ENST00000367459	T	0.36699	1.24	5.91	4.72	0.59763	.	1.982040	0.02048	N	0.049806	T	0.28433	0.0703	N	0.14661	0.345	0.36212	D	0.851395	B;B	0.16802	0.019;0.0	B;B	0.12837	0.008;0.0	T	0.03566	-1.1024	10	0.27785	T	0.31	.	11.8361	0.52325	0.8539:0.1461:0.0:0.0	.	65;65	Q08116-2;Q08116	.;RGS1_HUMAN	V	65	ENSP00000356429:M65V	ENSP00000356429:M65V	M	+	1	0	RGS1	190812093	0.994000	0.37717	0.997000	0.53966	0.932000	0.56968	2.090000	0.41682	2.254000	0.74563	0.533000	0.62120	ATG		0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		22	258	0	0	0	1	0	22	258					G	192545470	A	G	192545470	3	3	79	1	0	0	0	0	1	0	0	0	13342	101	4	4	199	4	RGS1	1	192545470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2477532	192545470	56705151	1571	11888											
RGS2	5997	broad.mit.edu	37	chr1	192778279	192778279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcagtggccacaagagCgaggagaagcgagaaaagat	16	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192778279C>T	ENST00000235382.5	+	1	109	c.78C>T	c.(76-78)agC>agT	p.S26S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	26					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCACAAGAGCGAGGAGAAGC	0.567																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(76-78)agC>agT		regulator of G-protein signaling 2, 24kDa							198	172	181					1																	192778279		2203	4300	6503	SO:0001819	synonymous_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778279C>T	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.78C>T	1.37:g.192778279C>T						RGS2_ENST00000483295.1_3'UTR	p.S26S	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			1	109	+			26					Q6I9U5	Silent	SNP	ENST00000235382.5	37	c.78C>T	CCDS1377.1																																																																																				0.567	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		8	488	0	0	0	1	0	8	488					T	192778279	C	T	192778279	2	4	79	1	0	0	0	0	0	0	0	1	13352	767	27	1		1	RGS2	1	192778279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232809	192778279	56472342	1572	11889											
CDC73	79577	broad.mit.edu	37	chr1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagaaataggtcttcagcGatctactcaaggtatgtctt	8	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	120					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(358-360)cGa>cAa		cell division cycle 73							100	95	97					1																	193104572		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193104572G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.359G>A	1.37:g.193104572G>A	ENSP00000356405:p.Arg120Gln						p.R120Q	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			4	543	+			120					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.359G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679579	0.68042	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.76076	0.3937	L	0.43152	1.355	0.54753	D	0.999987	P	0.50443	0.935	B	0.34722	0.188	T	0.74343	-0.3696	10	0.18276	T	0.48	-10.1528	14.6786	0.69001	0.0697:0.0:0.9303:0.0	.	120	Q6P1J9	CDC73_HUMAN	Q	120	ENSP00000356405:R120Q	ENSP00000356405:R120Q	R	+	2	0	CDC73	191371195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.406000	0.46857	0.650000	0.86243	CGA		0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		103	293	0	0	0	1	0	103	293					A	193104572	G	A	193104572	3	1	79	1	0	0	0	0	1	0	0	0	3094	1058	37	1	373	1	CDC73	1	193104572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326293	193104572	56146049	1573	11890											
CDC73	79577	broad.mit.edu	37	chr1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaaagccaaaattatgGctaagaaaagatctactatc	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	191					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(571-573)Gct>Act		cell division cycle 73							63	56	59					1																	193111038		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111038G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.571G>A	1.37:g.193111038G>A	ENSP00000356405:p.Ala191Thr						p.A191T	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	755	+			191					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.571G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093681	0.76870	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86030	-2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.79805	2.47	0.80722	D	1	B	0.21520	0.057	B	0.21708	0.036	T	0.81872	-0.0733	10	0.23891	T	0.37	-18.9726	20.5568	0.99304	0.0:0.0:1.0:0.0	.	191	Q6P1J9	CDC73_HUMAN	T	191	ENSP00000356405:A191T	ENSP00000356405:A191T	A	+	1	0	CDC73	191377661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.861000	0.98227	0.655000	0.94253	GCT		0.373	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		34	135	0	0	0	1	0	34	135					A	193111038	G	A	193111038	3	1	79	1	0	0	0	0	1	0	0	0	3094	1203	42	2	597	2	CDC73	1	193111038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6466	193111038	56139583	1574	11891											
CDC73	79577	broad.mit.edu	37	chr1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgccccaaatgcagcacCtgtggtaagaatgctttact	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	275	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(823-825)cCt>cTt		cell division cycle 73							52	45	48					1																	193117091		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193117091C>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.824C>T	1.37:g.193117091C>T	ENSP00000356405:p.Pro275Leu						p.P275L	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			8	1008	+			275					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.824C>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333084	0.60853	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.63744	-0.06	5.66	5.66	0.87406	.	0.058977	0.64402	D	0.000001	T	0.66799	0.2826	M	0.79123	2.44	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63506	-0.6622	10	0.46703	T	0.11	-15.6887	19.3509	0.94384	0.0:1.0:0.0:0.0	.	275	Q6P1J9	CDC73_HUMAN	L	275	ENSP00000356405:P275L	ENSP00000356405:P275L	P	+	2	0	CDC73	191383714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.170000	0.58229	2.656000	0.90262	0.655000	0.94253	CCT		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		37	112	0	0	0	1	0	37	112					T	193117091	C	T	193117091	3	4	79	1	0	0	0	0	1	0	0	0	3094	681	24	2	854	2	CDC73	1	193117091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6053	193117091	56133530	1575	11892											
KCNT2	343450	broad.mit.edu	37	chr1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtagaaagacccaaGtgtttcattctatttttcac	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000294725.9	-	26	4101	c.3186C>A	c.(3184-3186)caC>caA	p.H1062Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000367433.5_Missense_Mutation_p.H1038Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1062					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGACCCAAGTGTTTCATTC	0.378																																						ENST00000367433.5																			0				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						c.(3112-3114)caC>caA		potassium channel, subfamily T, member 2							106	111	109					1																	196227349		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227349G>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.3186C>A	1.37:g.196227349G>T	ENSP00000294725:p.His1062Gln					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H1062Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q	p.H1038Q			Q6UVM3	KCNT2_HUMAN			25	3215	-			1062					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3114C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295257	0.40594	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.24;2.51	5.96	4.07	0.47477	.	0.089437	0.48767	D	0.000168	T	0.40222	0.1108	M	0.79805	2.47	0.80722	D	1	D;D;D;P	0.67145	0.996;0.973;0.973;0.716	D;P;P;B	0.66497	0.944;0.726;0.726;0.221	T	0.34950	-0.9808	10	0.51188	T	0.08	-18.9987	12.1512	0.54051	0.1908:0.0:0.8092:0.0	.	1027;1038;995;1062	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	1038;996;1062	ENSP00000356403:H1038Q;ENSP00000356401:H996Q;ENSP00000294725:H1062Q	ENSP00000294725:H1062Q	H	-	3	2	KCNT2	194493972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	1.518000	0.48934	0.643000	0.83706	CAC		0.378	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		101	325	1	0	6.16109e-32	1	7.26658e-32	101	325					T	196227349	G	T	196227349	3	4	79	1	0	0	0	0	1	0	0	0	8122	1020	36	3	233	3	KCNT2	1	196227349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3110258	196227349	53023272	1576	11893											
KCNT2	343450	broad.mit.edu	37	chr1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgatgctaaacaccctcCcagcagcaaaaggcagtcga	8	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000294725.9	-	23	3569	c.2654G>T	c.(2653-2655)gGg>gTg	p.G885V	KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000367433.5_Missense_Mutation_p.G861V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	885					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACACCCTCCCAGCAGCAAA	0.368																																						ENST00000367433.5																			0				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						c.(2581-2583)gGg>gTg		potassium channel, subfamily T, member 2							86	83	84					1																	196254830		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254830C>A	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.2654G>T	1.37:g.196254830C>A	ENSP00000294725:p.Gly885Val					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G885V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V	p.G861V			Q6UVM3	KCNT2_HUMAN			22	2683	-			885					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2582G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588233	0.86851	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78707	-1.2;-1.2;-1.2	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.935;0.982;0.971;0.982;0.935	D	0.91274	0.5046	10	0.87932	D	0	-17.9902	18.8872	0.92383	0.0:1.0:0.0:0.0	.	885;843;861;811;885	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	861;811;885	ENSP00000356403:G861V;ENSP00000356401:G811V;ENSP00000294725:G885V	ENSP00000294725:G885V	G	-	2	0	KCNT2	194521453	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.201000	0.77847	2.835000	0.97688	0.591000	0.81541	GGG		0.368	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		9	240	1	0	0.000274275	1	0.000278163	9	240					A	196254830	C	A	196254830	3	1	79	1	0	0	0	0	1	0	0	0	8122	623	22	3	777	3	KCNT2	1	196254830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27481	196254830	52995791	1577	11894											
CFH	3075	broad.mit.edu	37	chr1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagattgcaatgaacttcCtccaagaagaaatacagaaa	7	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000359637.2	+	2	136	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000367429.4_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.P25H			P08603	CFAH_HUMAN	complement factor H	874	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGAACTTCCTCCAAGAAGA	0.348																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(73-75)cCt>cAt		complement factor H							45	49	48					1																	196642123		2202	4300	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196642123C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.74C>A	1.37:g.196642123C>A	ENSP00000352658:p.Pro25His					CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.P25H	p.P25H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			2	314	+			25			Sushi 1.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.74C>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517558	0.44763	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69040	1.33;1.25;-0.37	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.81795	0.4898	M	0.80183	2.485	0.34804	D	0.73707	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;0.998	D	0.88067	0.2798	9	0.72032	D	0.01	.	13.7649	0.62988	0.0:1.0:0.0:0.0	.	25;25;25;25	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	25	ENSP00000356399:P25H;ENSP00000402656:P25H;ENSP00000352658:P25H	ENSP00000352658:P25H	P	+	2	0	CFH	194908746	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	3.997000	0.57016	2.321000	0.78463	0.462000	0.41574	CCT		0.348	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		33	232	1	0	5.60225e-13	1	6.03507e-13	33	232					A	196642123	C	A	196642123	3	1	79	1	0	0	0	0	1	0	0	0	3292	681	24	3	80	3	CFH	1	196642123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387293	196642123	52608498	1578	11895											
CFH	3075	broad.mit.edu	37	chr1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacgctcttccaaaagCgcagaccacagttacatgta	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000359637.2	+	8	1144	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CFH_ENST00000367429.4_Missense_Mutation_p.A425V|CFH_ENST00000439155.2_Missense_Mutation_p.A425V			P08603	CFAH_HUMAN	complement factor H	425	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCAAAAGCGCAGACCACA	0.433																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1273-1275)gCg>gTg		complement factor H							106	90	95					1																	196659307		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659307C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1082C>T	1.37:g.196659307C>T	ENSP00000352658:p.Ala361Val					CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000359637.2_Missense_Mutation_p.A361V	p.A425V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1514	+			425			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	c	10.93	1.491258	0.26774	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	-9.33	0.00639	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33265	0.0857	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.34161	0.243;0.439;0.234;0.034	B;B;B;B	0.27380	0.074;0.079;0.026;0.011	T	0.19353	-1.0308	9	0.31617	T	0.26	.	7.1467	0.25587	0.214:0.0964:0.5946:0.095	.	361;425;425;425	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	425;425;425;361	ENSP00000356399:A425V;ENSP00000402656:A425V;ENSP00000352658:A361V	ENSP00000352658:A361V	A	+	2	0	CFH	194925930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.015000	0.03637	-1.894000	0.01105	-3.539000	0.00031	GCG		0.433	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		79	248	0	0	0	1	0	79	248					T	196659307	C	T	196659307	3	4	79	1	0	0	0	0	1	0	0	0	3292	768	27	1	1308	1	CFH	1	196659307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17184	196659307	52591314	1579	11896											
CFH	3075	broad.mit.edu	37	chr1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagctgaatgacacattggActatgaatgccatgatggtt	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	533	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						gacacattGGACTATGAATGC	0.363																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1597-1599)gAc>gTc		complement factor H							247	231	236					1																	196684801		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684801A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1598A>T	1.37:g.196684801A>T	ENSP00000356399:p.Asp533Val						p.D533V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1838	+			533			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1598A>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985538	0.35036	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	5.65	4.51	0.55191	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60818	0.2298	M	0.87456	2.885	0.80722	D	1	P	0.37370	0.592	B	0.34452	0.183	T	0.58002	-0.7713	9	0.15499	T	0.54	.	8.9973	0.36061	0.8355:0.0:0.0:0.1645	.	533	P08603	CFAH_HUMAN	V	533	ENSP00000356399:D533V	ENSP00000356399:D533V	D	+	2	0	CFH	194951424	0.963000	0.33076	0.949000	0.38748	0.025000	0.11179	2.018000	0.40991	0.943000	0.37553	0.533000	0.62120	GAC		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		30	671	0	0	0	1	0	30	671					T	196684801	A	T	196684801	3	4	79	1	0	0	0	0	1	0	0	0	3292	275	10	5	1658	5	CFH	1	196684801	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25494	196684801	52565820	1580	11897											
CFHR1	3078	broad.mit.edu	37	chr1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacagccaaacagaagCtttatttgagaacaggtgaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	288	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(862-864)Ctt>Att		complement factor H-related 1							125	146	139					1																	196800998		1891	4135	6026	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196800998C>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.862C>A	1.37:g.196800998C>A	ENSP00000314299:p.Leu288Ile					CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.L229I	p.L288I	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			6	950	+			288			Sushi 5.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.862C>A	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387448	0.01194	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64618	-0.11;-0.11	2.77	-5.55	0.02536	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33904	0.0879	L	0.33668	1.02	0.09310	N	1	P;B	0.34892	0.474;0.234	B;B	0.28232	0.073;0.087	T	0.27157	-1.0082	9	0.10377	T	0.69	.	0.6071	0.00755	0.3528:0.1825:0.1121:0.3526	.	288;1189	Q03591;A8K5T0	FHR1_HUMAN;.	I	229;288	ENSP00000356394:L229I;ENSP00000314299:L288I	ENSP00000314299:L288I	L	+	1	0	CFHR1	195067621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.446000	0.00232	-3.448000	0.00161	-1.639000	0.00775	CTT		0.368	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		109	200	1	0	5.97022e-63	1	7.52953e-63	109	200					A	196800998	C	A	196800998	3	1	79	1	0	0	0	0	1	0	0	0	3293	797	28	3	884	3	CFHR1	1	196800998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116197	196800998	52449623	1581	11898											
CFHR2	3080	broad.mit.edu	37	chr1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacaatgagaacaacaTttcatgtgtagaacggggct	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388																																						ENST00000367415.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(379-381)aTt>aGt		complement factor H-related 2							130	113	118					1																	196920108		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196920108T>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.380T>G	1.37:g.196920108T>G	ENSP00000356385:p.Ile127Ser					CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000476712.1_3'UTR	p.I127S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			3	494	+			127			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.380T>G	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962534	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.67698	-0.28;-0.28	2.77	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	0.234704	0.21634	N	0.071425	T	0.75679	0.3882	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62153	-0.6914	10	0.33940	T	0.23	.	4.5334	0.12017	0.0:0.1685:0.0:0.8315	.	127	P36980	FHR2_HUMAN	S	127	ENSP00000356391:I127S;ENSP00000356385:I127S	ENSP00000356385:I127S	I	+	2	0	CFHR2	195186731	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.947000	0.29082	0.268000	0.21939	0.352000	0.21897	ATT		0.388	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		12	443	0	0	0	1	0	12	443					G	196920108	T	G	196920108	3	3	79	1	0	0	0	0	1	0	0	0	3294	1493	52	4	390	4	CFHR2	1	196920108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119110	196920108	52330513	1582	11899											
F13B	2165	broad.mit.edu	37	chr1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcagtggtataaccaGccaagcagaaaaatgacaat	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGTATAACCAGCCAAGCAGAA	0.398																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(181-183)gCt>gTt		coagulation factor XIII, B polypeptide							148	157	154					1																	197032070		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197032070G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.182C>T	1.37:g.197032070G>A	ENSP00000356382:p.Ala61Val						p.A61V	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			2	225	-			61			Sushi 1.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.182C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080272	0.55753	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.58	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (2);	0.256433	0.20618	N	0.088835	T	0.56232	0.1971	L	0.52364	1.645	0.47862	D	0.999535	B	0.26400	0.148	B	0.31614	0.133	T	0.49854	-0.8895	10	0.18710	T	0.47	.	12.4304	0.55571	0.1397:0.0:0.8603:0.0	.	61	P05160	F13B_HUMAN	V	61	ENSP00000356382:A61V	ENSP00000356382:A61V	A	-	2	0	F13B	195298693	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.868000	0.48436	1.363000	0.46019	0.655000	0.94253	GCT		0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		92	840	0	0	0	1	0	92	840					A	197032070	G	A	197032070	3	1	79	1	0	0	0	0	1	0	0	0	5359	971	34	2	1847	2	F13B	1	197032070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111962	197032070	52218551	1583	11900											
ASPM	259266	broad.mit.edu	37	chr1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tataaatcctttacttctagCttgaataatgataacactgc	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2918	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(8752-8754)Gct>Tct		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							55	57	56					1																	197069629		2203	4296	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069629C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8752G>T	1.37:g.197069629C>A	ENSP00000356379:p.Ala2918Ser					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A2918S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	9008	-			2918			IQ 33.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8752G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081809	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72394	-0.65	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000004	T	0.81202	0.4773	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.642;0.998	T	0.77440	-0.2587	10	0.20519	T	0.43	.	13.7795	0.63075	0.1536:0.8464:0.0:0.0	.	904;2918	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2918;904	ENSP00000356379:A2918S	ENSP00000356376:A904S	A	-	1	0	ASPM	195336252	0.993000	0.37304	0.996000	0.52242	0.374000	0.29953	0.671000	0.25172	2.530000	0.85305	0.563000	0.77884	GCT		0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		28	179	1	0	3.99451e-17	1	4.40333e-17	28	179					A	197069629	C	A	197069629	3	1	79	1	0	0	0	0	1	0	0	0	1057	797	28	3	1725	3	ASPM	1	197069629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37559	197069629	52180992	1584	11901											
ASPM	259266	broad.mit.edu	37	chr1	197071117	197071117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatcttctcctcaccaGtaatgatctaaacctactct	3	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2422	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7264-7266)Ctg>Ttg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							103	106	105					1																	197071117		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071117G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7264C>T	1.37:g.197071117G>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.L2422L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7520	-			2422			IQ 25.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.7264C>T	CCDS1389.1																																																																																				0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		103	559	0	0	0	1	0	103	559					A	197071117	G	A	197071117	2	1	79	1	0	0	0	0	0	0	0	1	1057	1020	36	2		2	ASPM	1	197071117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1488	197071117	52179504	1585	11902											
ASPM	259266	broad.mit.edu	37	chr1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcttttgttgcacatGcattctatagtatgactgta	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1984	IQ 13. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5950-5952)Cat>Aat		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							168	165	166					1																	197072431		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072431G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5950C>A	1.37:g.197072431G>T	ENSP00000356379:p.His1984Asn					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.H1984N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6206	-			1984			IQ 13.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5950C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501171	0.64298	.	.	ENSG00000066279	ENST00000367409	T	0.27720	1.65	5.6	-3.33	0.04958	.	0.583413	0.16663	N	0.204686	T	0.42314	0.1197	M	0.75264	2.295	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	T	0.51834	-0.8655	10	0.46703	T	0.11	.	15.0708	0.72034	0.2856:0.0:0.7144:0.0	.	1984	Q8IZT6	ASPM_HUMAN	N	1984	ENSP00000356379:H1984N	ENSP00000356379:H1984N	H	-	1	0	ASPM	195339054	0.980000	0.34600	0.072000	0.20136	0.991000	0.79684	0.295000	0.19065	-0.614000	0.05687	0.645000	0.84053	CAT		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		179	677	1	0	3.97866e-83	1	5.09331e-83	179	677					T	197072431	G	T	197072431	3	4	79	1	0	0	0	0	1	0	0	0	1057	1319	46	3	4527	3	ASPM	1	197072431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	197072431	52178190	1586	11903											
ASPM	259266	broad.mit.edu	37	chr1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattgaagcaccagtaccgCatgacggagttcaatatact	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)Gcg>Tcg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							221	215	217					1																	197072533		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072533C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5848G>T	1.37:g.197072533C>A	ENSP00000356379:p.Ala1950Ser					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A1950S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6104	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5848G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473039	0.26423	.	.	ENSG00000066279	ENST00000367409	T	0.70516	-0.49	5.62	4.71	0.59529	.	0.240301	0.35013	N	0.003508	T	0.59569	0.2203	L	0.45470	1.425	0.37067	D	0.898363	B	0.22909	0.077	B	0.21360	0.034	T	0.60566	-0.7238	10	0.40728	T	0.16	.	6.0909	0.19993	0.2775:0.5876:0.0:0.1349	.	1950	Q8IZT6	ASPM_HUMAN	S	1950	ENSP00000356379:A1950S	ENSP00000356379:A1950S	A	-	1	0	ASPM	195339156	0.133000	0.22466	0.040000	0.18447	0.002000	0.02628	0.843000	0.27640	1.372000	0.46190	-0.158000	0.13435	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		286	838	1	0	4.89683e-108	1	6.30268e-108	286	838					A	197072533	C	A	197072533	3	1	79	1	0	0	0	0	1	0	0	0	1057	710	25	3	4629	3	ASPM	1	197072533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	197072533	52178088	1587	11904											
ASPM	259266	broad.mit.edu	37	chr1	197072923	197072923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagattgttgtttgattaGctggcgtactttataacctc	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1820	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTGATTAGCTGGCGTACT	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5458-5460)Cta>Tta		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93	96	95					1																	197072923		2202	4298	6500	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072923G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5458C>T	1.37:g.197072923G>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.L1820L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5714	-			1820			IQ 8.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5458C>T	CCDS1389.1																																																																																				0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		38	551	0	0	0	1	0	38	551					A	197072923	G	A	197072923	2	1	79	1	0	0	0	0	0	0	0	1	1057	962	34	2		2	ASPM	1	197072923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	197072923	52177698	1588	11905											
ASPM	259266	broad.mit.edu	37	chr1	197073218	197073218	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgcatatactcttctctCttttgtgcagctattttttt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073218C>A	ENST00000367409.4	-	18	5419	c.5163G>T	c.(5161-5163)aaG>aaT	p.K1721N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1721					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTCTTCTCTCTTTTGTGCAG	0.378																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5161-5163)aaG>aaT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114	115	115					1																	197073218		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073218C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5163G>T	1.37:g.197073218C>A	ENSP00000356379:p.Lys1721Asn					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.K1721N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5419	-			1721					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5163G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759433	0.31137	.	.	ENSG00000066279	ENST00000367409	T	0.58940	0.3	5.98	3.03	0.35002	.	1.189960	0.05684	N	0.590992	T	0.56366	0.1980	M	0.75447	2.3	0.30637	N	0.756886	D	0.57257	0.979	P	0.45474	0.482	T	0.52895	-0.8514	10	0.23891	T	0.37	.	1.1784	0.01840	0.1348:0.3712:0.1663:0.3277	.	1721	Q8IZT6	ASPM_HUMAN	N	1721	ENSP00000356379:K1721N	ENSP00000356379:K1721N	K	-	3	2	ASPM	195339841	0.001000	0.12720	0.271000	0.24616	0.445000	0.32107	0.123000	0.15708	0.867000	0.35654	0.585000	0.79938	AAG		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		66	659	1	0	3.07281e-33	1	3.63882e-33	66	659					A	197073218	C	A	197073218	3	1	79	1	0	0	0	0	1	0	0	0	1057	912	32	3	5314	3	ASPM	1	197073218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295	197073218	52177403	1589	11906											
ASPM	259266	broad.mit.edu	37	chr1	197073231	197073232	+	Frame_Shift_Ins	INS	-	-	T													ttctctcttttgtgcagctaINStttttttggaacggtaacat					rs199422167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073231_197073232insT	ENST00000367409.4	-	18	5405_5406	c.5149_5150insA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTGCAGCTATTTTTTTGGAA	0.371																																						ENST00000367409.4																			2	Deletion - Frameshift(2)	p.I1717fs*1(2)	ovary(1)|large_intestine(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165	GRCh37	CD077387	ASPM	D		c.(5149-5151)agcfs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073231_197073232insT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5150dupA	1.37:g.197073238_197073238dupT	ENSP00000356379:p.Ile1717fs					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.S1717fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5405_5406	-			1717					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	c.5149_5150insA	CCDS1389.1																																																																																				0.371	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		144	591						144	591	---	---	---	---	T	197073232	-	T	197073231	7	5	79	1	0	1	1	0	0	0	0	0	1057	449	16	0	5327	0	ASPM	1	197073231	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	13	197073231	52177390	1590	11907											
ASPM	259266	broad.mit.edu	37	chr1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcttgttttcttaaatgCcattctctaaaagctctttg	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1456					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4366-4368)tgG>tgA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							79	76	77					1																	197074013		2203	4296	6499	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074013C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4368G>A	1.37:g.197074013C>T	ENSP00000356379:p.Trp1456*					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.W1456*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	4624	-			1456					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.4368G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	44	11.166462	0.99525	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.27	5.27	0.74061	.	0.172650	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	.	.	.	X	1456	.	ENSP00000356379:W1456X	W	-	3	0	ASPM	195340636	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	5.308000	0.65768	2.636000	0.89361	0.484000	0.47621	TGG		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		29	181	0	0	0	1	0	29	181					T	197074013	C	T	197074013	4	4	79	1	0	0	0	0	0	1	0	0	1057	740	26	2	6109	2	ASPM	1	197074013	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	197074013	52176608	1591	11908											
ASPM	259266	broad.mit.edu	37	chr1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacgaagatccaaaaGccttgcacaaagaaatgaca	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000367408.1_Missense_Mutation_p.L510I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1260					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3778-3780)Ctt>Att		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							74	71	72					1																	197091137		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091137G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3778C>A	1.37:g.197091137G>T	ENSP00000356379:p.Leu1260Ile					ASPM_ENST00000367408.1_Missense_Mutation_p.L510I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I	p.L1260I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			16	4034	-			1260					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3778C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981218	0.93044	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61392	0.11;0.11;0.11	5.74	5.74	0.90152	Calponin homology domain (2);	0.000000	0.64402	D	0.000007	T	0.80654	0.4664	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.82592	-0.0381	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	1260;1260	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1260;1260;510	ENSP00000356379:L1260I;ENSP00000294732:L1260I;ENSP00000356378:L510I	ENSP00000294732:L1260I	L	-	1	0	ASPM	195357760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.960000	0.93117	2.714000	0.92807	0.585000	0.79938	CTT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	183	1	0	1.49906e-05	1	1.53515e-05	14	183					T	197091137	G	T	197091137	3	4	79	1	0	0	0	0	1	0	0	0	1057	971	34	3	6707	3	ASPM	1	197091137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17124	197091137	52159484	1592	11909											
ASPM	259266	broad.mit.edu	37	chr1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggcaagatttgtaacgGcaaaatcaaattcatcaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000367408.1_Missense_Mutation_p.A214V|ASPM_ENST00000294732.7_Missense_Mutation_p.A964V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	964	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTGTAACGGCAAAATCAAA	0.398																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2890-2892)gCc>gTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							118	113	115					1																	197097665		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197097665G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2891C>T	1.37:g.197097665G>A	ENSP00000356379:p.Ala964Val					ASPM_ENST00000367408.1_Missense_Mutation_p.A214V|ASPM_ENST00000294732.7_Missense_Mutation_p.A964V	p.A964V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			10	3147	-			964			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2891C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643470	0.96704	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;0.28;0.28	5.77	5.77	0.91146	Calponin homology domain (4);	0.076806	0.53938	D	0.000049	T	0.75824	0.3902	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.87578	0.859;0.998	T	0.75513	-0.3291	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	964;964	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	964;964;214	ENSP00000356379:A964V;ENSP00000294732:A964V;ENSP00000356378:A214V	ENSP00000294732:A964V	A	-	2	0	ASPM	195364288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC		0.398	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		94	497	0	0	0	1	0	94	497					A	197097665	G	A	197097665	3	1	79	1	0	0	0	0	1	0	0	0	1057	1203	42	2	7618	2	ASPM	1	197097665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6528	197097665	52152956	1593	11910											
ASPM	259266	broad.mit.edu	37	chr1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggattccaaagtaggCgattcagaataaacatagcc	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000367408.1_Missense_Mutation_p.R104H|ASPM_ENST00000294732.7_Missense_Mutation_p.R854H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R854H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAAAGTAGGCGATTCAGAAT	0.408																																						ENST00000367409.4																			1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2560-2562)cGc>cAc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							155	141	146					1																	197099113		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197099113C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2561G>A	1.37:g.197099113C>T	ENSP00000356379:p.Arg854His					ASPM_ENST00000367408.1_Missense_Mutation_p.R104H|ASPM_ENST00000294732.7_Missense_Mutation_p.R854H	p.R854H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			8	2817	-			854					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2561G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478088	0.96291	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60920	0.15;0.15;0.15	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76315	-0.3004	10	0.46703	T	0.11	.	19.2852	0.94067	0.0:1.0:0.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	854;854;104	ENSP00000356379:R854H;ENSP00000294732:R854H;ENSP00000356378:R104H	ENSP00000294732:R854H	R	-	2	0	ASPM	195365736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	CGC		0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	478	0	0	0	1	0	9	478					T	197099113	C	T	197099113	3	4	79	1	0	0	0	0	1	0	0	0	1057	768	27	1	7956	1	ASPM	1	197099113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1448	197099113	52151508	1594	11911											
ASPM	259266	broad.mit.edu	37	chr1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttgagacatctttttgCttttggtttattaatctcag	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	517					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1549-1551)Gca>Aca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							172	176	174					1																	197111833		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111833C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1549G>A	1.37:g.197111833C>T	ENSP00000356379:p.Ala517Thr					ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1805	-			517					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1549G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004738	0.54254	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59906	0.23;1.49	5.44	3.31	0.37934	.	0.252448	0.34460	N	0.003950	T	0.50429	0.1615	M	0.66939	2.045	0.26256	N	0.97866	B;B	0.18461	0.012;0.028	B;B	0.20577	0.011;0.03	T	0.41197	-0.9522	10	0.33141	T	0.24	.	6.7476	0.23470	0.3664:0.5422:0.0:0.0914	.	517;517	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	517	ENSP00000356379:A517T;ENSP00000294732:A517T	ENSP00000294732:A517T	A	-	1	0	ASPM	195378456	1.000000	0.71417	0.905000	0.35620	0.985000	0.73830	4.067000	0.57527	1.437000	0.47472	-0.148000	0.13756	GCA		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		161	844	0	0	0	1	0	161	844					T	197111833	C	T	197111833	3	4	79	1	0	0	0	0	1	0	0	0	1057	797	28	2	8988	2	ASPM	1	197111833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12720	197111833	52138788	1595	11912											
ASPM	259266	broad.mit.edu	37	chr1	197112583	197112583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcattaaaagaaacttttgAaacgttggcactgtgtacat	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197112583A>C	ENST00000367409.4	-	3	1055	c.799T>G	c.(799-801)Tca>Gca	p.S267A	ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	267					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAACTTTTGAAACGTTGGCA	0.378																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(799-801)Tca>Gca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							98	95	96					1																	197112583		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112583A>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.799T>G	1.37:g.197112583A>C	ENSP00000356379:p.Ser267Ala					ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1055	-			267					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.799T>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	3.538	-0.094337	0.07053	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57595	0.39;1.65	5.21	1.28	0.21552	.	1.694550	0.03164	N	0.169747	T	0.39091	0.1065	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14615	-1.0466	10	0.35671	T	0.21	.	4.1352	0.10167	0.4431:0.3714:0.0741:0.1115	.	267;267	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	A	267	ENSP00000356379:S267A;ENSP00000294732:S267A	ENSP00000294732:S267A	S	-	1	0	ASPM	195379206	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.229000	0.17833	0.024000	0.15214	0.514000	0.50259	TCA		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		16	595	0	0	0	1	0	16	595					C	197112583	A	C	197112583	3	2	79	1	0	0	0	0	1	0	0	0	1057	246	9	4	9738	4	ASPM	1	197112583	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	750	197112583	52138038	1596	11913											
ZBTB41	360023	broad.mit.edu	37	chr1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattatgatccttttcaCtttgttcttcaatgtcagag	5	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCCTTTTCACTTTGTTCTTC	0.418																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(970-972)aGt>aAt		zinc finger and BTB domain containing 41							136	131	133					1																	197168633		2202	4300	6502	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168633C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.971G>A	1.37:g.197168633C>T	ENSP00000356375:p.Ser324Asn					ZBTB41_ENST00000467322.1_5'UTR	p.S324N	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	1039	-			324					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.971G>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889621	0.52014	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.33	4.33	0.51752	.	0.000000	0.47093	U	0.000248	T	0.06096	0.0158	N	0.24115	0.695	0.36069	D	0.84197	P	0.47409	0.895	B	0.41332	0.354	T	0.48885	-0.8995	10	0.32370	T	0.25	.	16.9144	0.86148	0.0:1.0:0.0:0.0	.	324	Q5SVQ8	ZBT41_HUMAN	N	324	ENSP00000356375:S324N	ENSP00000356375:S324N	S	-	2	0	ZBTB41	195435256	0.998000	0.40836	0.960000	0.40013	0.873000	0.50193	2.775000	0.47702	1.947000	0.56498	0.298000	0.19748	AGT		0.418	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		93	440	0	0	0	1	0	93	440					T	197168633	C	T	197168633	3	4	79	1	0	0	0	0	1	0	0	0	17596	565	20	2	1798	2	ZBTB41	1	197168633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56050	197168633	52081988	1597	11914											
ZBTB41	360023	broad.mit.edu	37	chr1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaacagtgaagagctTcaggagttggtcttcctgca	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAAGAGCTTCAGGAGTTGG	0.383																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(136-138)gAa>gCa		zinc finger and BTB domain containing 41							101	106	104					1																	197169467		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169467T>G		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.137A>C	1.37:g.197169467T>G	ENSP00000356375:p.Glu46Ala					ZBTB41_ENST00000467322.1_5'UTR	p.E46A	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	205	-			46					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.137A>C	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612969	0.28712	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.96	3.83	0.44106	.	0.494524	0.16423	N	0.215093	T	0.03651	0.0104	N	0.14661	0.345	0.28586	N	0.9099	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	2.4251	0.04457	0.1308:0.0884:0.2048:0.5761	.	46	Q5SVQ8	ZBT41_HUMAN	A	46	ENSP00000356375:E46A	ENSP00000356375:E46A	E	-	2	0	ZBTB41	195436090	0.989000	0.36119	0.794000	0.32065	0.968000	0.65278	1.307000	0.33516	0.732000	0.32470	0.254000	0.18369	GAA		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		78	423	0	0	0	1	0	78	423					G	197169467	T	G	197169467	3	3	79	1	0	0	0	0	1	0	0	0	17596	1783	62	4	2632	4	ZBTB41	1	197169467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	834	197169467	52081154	1598	11915											
CRB1	23418	broad.mit.edu	37	chr1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agattccttttgcaataaaaAcaacaccaggtgcctctcaa	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367400.3	+	2	224	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	30	EGF-like 1. {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)			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						TGCAATAAAAACAACACCAGG	0.313																																						ENST00000367400.3																			0				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						c.(88-90)aAc>aCc		crumbs homolog 1 (Drosophila)							43	43	43					1																	197297570		2198	4300	6498	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.chr1:197297570A>C		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.89A>C	1.37:g.197297570A>C	ENSP00000356370:p.Asn30Thr					CRB1_ENST00000538660.1_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.N30T	p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	224	+			30			EGF-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.89A>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259173	0.39995	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91996	-2.95;-1.72;-2.17	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94961	0.8370	L	0.60957	1.885	0.80722	D	1	D;B;D;D	0.69078	0.997;0.066;0.997;0.996	D;B;D;P	0.77004	0.989;0.099;0.989;0.815	D	0.95103	0.8232	9	0.56958	D	0.05	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	30;30;30;55	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	T	30	ENSP00000438091:N30T;ENSP00000356370:N30T;ENSP00000356369:N30T	ENSP00000356369:N30T	N	+	2	0	CRB1	195564193	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.234000	0.72326	2.216000	0.71823	0.533000	0.62120	AAC		0.313	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		54	196	0	0	0	1	0	54	196					C	197297570	A	C	197297570	3	2	79	1	0	0	0	0	1	0	0	0	3857	43	2	4	95	4	CRB1	1	197297570	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128103	197297570	51953051	1599	11916											
CRB1	23418	broad.mit.edu	37	chr1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatcaggaccctatttatCctgtctgcatctgccctgct	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367400.3	+	2	529	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	132	EGF-like 3. {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)			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						CCCTATTTATCCTGTCTGCAT	0.512																																						ENST00000367400.3																			0				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						c.(394-396)Cct>Tct		crumbs homolog 1 (Drosophila)							94	80	85					1																	197297875		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.chr1:197297875C>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.394C>T	1.37:g.197297875C>T	ENSP00000356370:p.Pro132Ser					CRB1_ENST00000538660.1_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000367399.2_Missense_Mutation_p.P132S	p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	529	+			132			EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.394C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974088	0.18736	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.91577	3.21;-2.22;-1.74;-2.87	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90164	0.6926	N	0.12887	0.27	0.80722	D	1	D;D;B;D;D	0.89917	0.976;0.966;0.163;1.0;1.0	P;P;B;D;D	0.85130	0.772;0.64;0.102;0.997;0.986	D	0.91156	0.4957	9	0.72032	D	0.01	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	132;63;132;132;157	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	S	63;132;132;132	ENSP00000438786:P63S;ENSP00000438091:P132S;ENSP00000356370:P132S;ENSP00000356369:P132S	ENSP00000356369:P132S	P	+	1	0	CRB1	195564498	.	.	0.087000	0.20705	0.095000	0.18619	.	.	2.854000	0.98071	0.655000	0.94253	CCT		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		27	129	0	0	0	1	0	27	129					T	197297875	C	T	197297875	3	4	79	1	0	0	0	0	1	0	0	0	3857	855	30	2	400	2	CRB1	1	197297875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	197297875	51952746	1600	11917											
CRB1	23418	broad.mit.edu	37	chr1	197298117	197298117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatatacttgtatctgTccccacaattattctggtaa	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367400.3	+	2	771	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000538660.1_Silent_p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	212	EGF-like 5; calcium-binding. {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)			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						CTTGTATCTGTCCCCACAATT	0.418																																						ENST00000367400.3																			0				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						c.(634-636)tgT>tgC		crumbs homolog 1 (Drosophila)							51	49	50					1																	197298117		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197298117T>C		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.636T>C	1.37:g.197298117T>C						CRB1_ENST00000538660.1_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000367399.2_Silent_p.C212C	p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	771	+			212			EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.636T>C	CCDS1390.1																																																																																				0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		53	144	0	0	0	1	0	53	144					C	197298117	T	C	197298117	2	2	79	1	0	0	0	0	0	0	0	1	3857	1673	58	4		4	CRB1	1	197298117	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	242	197298117	51952504	1601	11918											
CRB1	23418	broad.mit.edu	37	chr1	197316584	197316584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgaggacagtgttgaCaattacacttgtcactgctg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367400.3	+	4	1098	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	321	EGF-like 8. {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)			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						ACAGTGTTGACAATTACACTT	0.408																																						ENST00000367400.3																			0				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						c.(961-963)gaC>gaT		crumbs homolog 1 (Drosophila)							155	124	135					1																	197316584		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316584C>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.963C>T	1.37:g.197316584C>T						CRB1_ENST00000538660.1_Silent_p.D321D|CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_Silent_p.D20D	p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			4	1098	+			321			EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.963C>T	CCDS1390.1																																																																																				0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		62	346	0	0	0	1	0	62	346					T	197316584	C	T	197316584	2	4	79	1	0	0	0	0	0	0	0	1	3857	477	17	2		2	CRB1	1	197316584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18467	197316584	51934037	1602	11919											
CRB1	23418	broad.mit.edu	37	chr1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaaggagaaatgcatcGcgaaagctcctactccactt	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A593T(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						GAAATGCATCGCGAAAGCTCC	0.468																																						ENST00000367400.3																			1	Substitution - Missense(1)	p.A593T(1)	kidney(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						c.(1777-1779)Gcg>Acg		crumbs homolog 1 (Drosophila)							117	111	113					1																	197390735		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.chr1:197390735G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1777G>A	1.37:g.197390735G>A	ENSP00000356370:p.Ala593Thr					CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000543483.1_Intron	p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1912	+			593			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1777G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		60	682	0	0	0	1	0	60	682					A	197390735	G	A	197390735	3	1	79	1	0	0	0	0	1	0	0	0	3857	1087	38	1	1799	1	CRB1	1	197390735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74151	197390735	51859886	1603	11920											
CRB1	23418	broad.mit.edu	37	chr1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccatcagcctctccatgTttgtccgaacgcttcaacca	5	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367400.3	+	7	2359	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	742	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CCTCTCCATGTTTGTCCGAAC	0.473																																						ENST00000367397.1																			0				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						c.(367-369)Ttt>Ctt		crumbs homolog 1 (Drosophila)							85	75	79					1																	197396679		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.chr1:197396679T>C		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.2224T>C	1.37:g.197396679T>C	ENSP00000356370:p.Phe742Leu					CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000543483.1_3'UTR	p.F123L			P82279	CRUM1_HUMAN			3	1225	+			742			EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.367T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223179	0.58668	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.75	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.81327	0.4799	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D	0.76494	0.999;0.99;0.889;0.997	D;D;B;D	0.77557	0.99;0.979;0.399;0.97	T	0.75952	-0.3136	9	0.10111	T	0.7	.	10.1145	0.42583	0.0:0.1356:0.0:0.8644	.	673;630;391;742	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	673;742;630;223;123;391	ENSP00000438786:F673L;ENSP00000356370:F742L;ENSP00000356369:F630L;ENSP00000444556:F223L;ENSP00000356367:F123L	ENSP00000356367:F123L	F	+	1	0	CRB1	195663302	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.662000	0.61525	0.438000	0.26450	-0.297000	0.09499	TTT		0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		63	203	0	0	0	1	0	63	203					C	197396679	T	C	197396679	3	2	79	1	0	0	0	0	1	0	0	0	3857	1725	60	4	2250	4	CRB1	1	197396679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5944	197396679	51853942	1604	11921											
CRB1	23418	broad.mit.edu	37	chr1	197397131	197397131	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggagacaacagctgcaaGgtaatgattactcatacaaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367400.3	+	7	2811	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000367397.1_Splice_Site_p.K273N|CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Splice_Site_p.K373N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	892	EGF-like 13. {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)			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						ACAGCTGCAAGGTAATGATTA	0.323																																						ENST00000367397.1																			0				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						c.e3+1		crumbs homolog 1 (Drosophila)							52	50	51					1																	197397131		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197397131G>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.2676+1G>T	1.37:g.197397131G>T						CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Splice_Site_p.K823_splice|CRB1_ENST00000367399.2_Splice_Site_p.K780_splice|CRB1_ENST00000544212.1_Splice_Site_p.K373_splice|CRB1_ENST00000367400.3_Splice_Site_p.K892_splice	p.K273_splice			P82279	CRUM1_HUMAN			3	1677	+			892			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37	c.819_splice	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393892	0.11638	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.91464	-2.05;-2.85;-2.85;-2.85;-2.85	4.98	4.06	0.47325	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85159	0.5633	L	0.28054	0.825	0.43598	D	0.995957	P;B;B;P	0.47841	0.51;0.277;0.055;0.901	B;B;B;P	0.47941	0.333;0.1;0.041;0.562	T	0.80500	-0.1355	9	0.21540	T	0.41	.	8.4454	0.32838	0.0786:0.0:0.7683:0.1531	.	823;780;541;892	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	823;892;780;373;273;541	ENSP00000438786:K823N;ENSP00000356370:K892N;ENSP00000356369:K780N;ENSP00000444556:K373N;ENSP00000356367:K273N	ENSP00000356367:K273N	K	+	3	2	CRB1	195663754	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	1.771000	0.38542	1.209000	0.43321	0.555000	0.69702	AAG		0.323	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Missense_Mutation	6	308	1	0	1	1	1	6	308					T	197397131	G	T	197397131	5	4	79	1	0	0	0	0	0	0	1	0	3857	1014	35	3	2702	3	CRB1	1	197397131	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452	197397131	51853490	1605	11922											
CRB1	23418	broad.mit.edu	37	chr1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaattttacaggaaaatTttgcaggtgagcataaagtc	10	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367400.3	+	9	3878	c.3743T>G	c.(3742-3744)tTt>tGt	p.F1248C	CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1248	EGF-like 17. {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)			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						ACAGGAAAATTTTGCAGGTGA	0.408																																						ENST00000367397.1																			0				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						c.(1885-1887)tTt>tGt		crumbs homolog 1 (Drosophila)							31	28	29					1																	197404736		2200	4294	6494	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.chr1:197404736T>G		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.3743T>G	1.37:g.197404736T>G	ENSP00000356370:p.Phe1248Cys					CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C|CRB1_ENST00000367400.3_Missense_Mutation_p.F1248C	p.F629C			P82279	CRUM1_HUMAN			5	2744	+			1248			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1886T>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212885	0.58452	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.91631	-2.88;-2.1;-2.88;-2.88;-2.88;-2.88	5.19	4.04	0.47022	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94258	0.8156	L	0.56769	1.78	0.33311	D	0.566073	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;0.998	P;D;D;D;P	0.85130	0.817;0.961;0.997;0.911;0.872	D	0.94319	0.7552	9	0.39692	T	0.17	.	11.3341	0.49494	0.1362:0.0:0.0:0.8638	.	712;1224;1136;897;1248	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	C	1224;712;1248;1136;729;629;897	ENSP00000438786:F1224C;ENSP00000438091:F712C;ENSP00000356370:F1248C;ENSP00000356369:F1136C;ENSP00000444556:F729C;ENSP00000356367:F629C	ENSP00000356367:F629C	F	+	2	0	CRB1	195671359	0.948000	0.32251	0.967000	0.41034	0.975000	0.68041	4.295000	0.59049	0.787000	0.33731	0.528000	0.53228	TTT		0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		11	80	0	0	0	1	0	11	80					G	197404736	T	G	197404736	3	3	79	1	0	0	0	0	1	0	0	0	3857	1841	64	4	3777	4	CRB1	1	197404736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7605	197404736	51845885	1606	11923											
C1orf53	388722	broad.mit.edu	37	chr1	197875015	197875015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgaatgttgtggctcTgcgtgcagacatgtgagtag	16	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(352-354)tcT>tcC		chromosome 1 open reading frame 53							172	164	167					1																	197875015		2034	4207	6241	SO:0001819	synonymous_variant	388722							g.chr1:197875015T>C	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.354T>C	1.37:g.197875015T>C						C1orf53_ENST00000542800.1_3'UTR	p.S118S	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			2	357	+			118					A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	c.354T>C	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	T	8.075	0.771042	0.16051	.	.	ENSG00000203724	ENST00000436652	.	.	.	5.73	-10.2	0.00374	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	-5.4769	1.0786	0.01638	0.193:0.3039:0.198:0.305	.	.	.	.	R	55	.	.	C	+	1	0	C1orf53	196141638	0.023000	0.18921	0.698000	0.30274	0.812000	0.45895	-1.303000	0.02743	-1.811000	0.01229	0.533000	0.62120	TGC		0.448	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		152	427	0	0	0	1	0	152	427					C	197875015	T	C	197875015	2	2	79	1	0	0	0	0	0	0	0	1	2052	1567	55	4		4	C1orf53	1	197875015	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470279	197875015	51375606	1607	11924											
NEK7	140609	broad.mit.edu	37	chr1	198201767	198201767	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcagttccaaccacaGgtaatttatcctaattaaga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000538004.1_Splice_Site_p.Q19H	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	19					cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363																																						ENST00000367385.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.e2+1		NIMA-related kinase 7							89	85	86					1																	198201767		2203	4300	6503	SO:0001630	splice_region_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198201767G>T	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.57+1G>T	1.37:g.198201767G>T						NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000538004.1_Splice_Site_p.Q19_splice|NEK7_ENST00000367383.1_Splice_Site_p.Q19_splice	p.Q19_splice	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			2	399	+			19					A6NGT8	Splice_Site	SNP	ENST00000367385.4	37	c.57_splice	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760669	0.69763	.	.	ENSG00000151414	ENST00000367385;ENST00000442588;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.54866	1.08;1.08;0.7;0.55;3.15	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.53593	0.73	T	0.52830	-0.8523	10	0.52906	T	0.07	.	15.5342	0.75990	0.0:0.0:1.0:0.0	.	19	Q8TDX7	NEK7_HUMAN	H	19	ENSP00000356355:Q19H;ENSP00000444621:Q19H;ENSP00000356353:Q19H;ENSP00000439095:Q19H;ENSP00000375835:Q19H	ENSP00000356353:Q19H	Q	+	3	2	NEK7	196468390	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.677000	0.68142	2.753000	0.94483	0.555000	0.69702	CAG		0.363	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	Missense_Mutation	70	182	1	0	5.29578e-48	1	6.52885e-48	70	182					T	198201767	G	T	198201767	5	4	79	1	0	0	0	0	0	0	1	0	10371	1014	35	3	59	3	NEK7	1	198201767	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326752	198201767	51048854	1608	11925											
PTPRC	5788	broad.mit.edu	37	chr1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatcttcaatattcaacaGactacacttttaaggtaaaa	4	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000367376.2	+	14	1810	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1639-1641)Gac>Aac		protein tyrosine phosphatase, receptor type, C							52	50	51					1																	198687417		2202	4300	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687417G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1639G>A	1.37:g.198687417G>A	ENSP00000356346:p.Asp547Asn					PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N	p.D547N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			14	1810	+			547			Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1639G>A		.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993669	0.02145	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56103	0.48	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23492	0.0568	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.14023	0.005;0.01;0.002;0.002;0.002	T	0.18085	-1.0348	10	0.21540	T	0.41	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	549;483;499;499;433;547;481;386	ENSP00000193532:D499N	ENSP00000306782:D386N	D	+	1	0	PTPRC	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				25	95	0	0	0	1	0	25	95					A	198687417	G	A	198687417	3	1	79	1	0	0	0	0	1	0	0	0	12847	942	33	2	1700	2	PTPRC	1	198687417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485650	198687417	50563204	1609	11926											
PTPRC	5788	broad.mit.edu	37	chr1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattcagaggaaccaagcaAatacatcaatgcatctttta	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000367376.2	+	28	3212	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1014	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACCAAGCAAATACATCAAT	0.348																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3040-3042)aAa>aCa		protein tyrosine phosphatase, receptor type, C							95	89	91					1																	198718653		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198718653A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3041A>C	1.37:g.198718653A>C	ENSP00000356346:p.Lys1014Thr					PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T	p.K1014T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			28	3212	+			1014			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3041A>C		.	.	.	.	.	.	.	.	.	.	A	18.28	3.588355	0.66105	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13307	2.6	5.82	2.25	0.28309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125027	0.35936	N	0.002887	T	0.17874	0.0429	N	0.17901	0.54	0.44295	D	0.997169	D;D;D	0.57899	0.981;0.981;0.961	P;P;P	0.62740	0.906;0.906;0.875	T	0.01212	-1.1417	10	0.62326	D	0.03	.	9.6267	0.39754	0.7274:0.0:0.2726:0.0	.	855;966;1014	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	T	1016;966;1014;853	ENSP00000193532:K966T	ENSP00000306782:K853T	K	+	2	0	PTPRC	196985276	0.958000	0.32768	0.969000	0.41365	0.763000	0.43281	0.284000	0.18864	0.131000	0.18576	0.528000	0.53228	AAA		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				51	203	0	0	0	1	0	51	203					C	198718653	A	C	198718653	3	2	79	1	0	0	0	0	1	0	0	0	12847	14	1	4	3158	4	PTPRC	1	198718653	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31236	198718653	50531968	1610	11927											
ZNF281	23528	broad.mit.edu	37	chr1	200376162	200376162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttacctgtaactctggCtggtgggtgtctttactctt	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.3	-	2	2796	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	891					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTAACTCTGGCTGGTGGGTGT	0.418																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2671-2673)aGc>aTc		zinc finger protein 281							112	118	116					1																	200376162		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376162C>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2672G>T	1.37:g.200376162C>A	ENSP00000294740:p.Ser891Ile					ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	p.S891I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2796	-			891					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2672G>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369378	0.61624	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.15139	2.45;2.45;2.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.05818	-1.0862	10	0.87932	D	0	-18.5336	19.5851	0.95487	0.0:1.0:0.0:0.0	.	855;891	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	891;891;855;596	ENSP00000294740:S891I;ENSP00000356322:S891I;ENSP00000356321:S855I	ENSP00000294740:S891I	S	-	2	0	ZNF281	198642785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.618000	0.88619	0.563000	0.77884	AGC		0.418	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		19	585	1	0	2.21704e-12	1	2.37967e-12	19	585					A	200376162	C	A	200376162	3	1	79	1	0	0	0	0	1	0	0	0	17871	797	28	3	19	3	ZNF281	1	200376162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657509	200376162	48874459	1611	11928											
ZNF281	23528	broad.mit.edu	37	chr1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactattatttgatactatgCcaagtgagccacttggtttt	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	504					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1510-1512)gGc>gAc		zinc finger protein 281							85	81	82					1																	200377323		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377323C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1511G>A	1.37:g.200377323C>T	ENSP00000294740:p.Gly504Asp					ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	p.G504D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1635	-			504					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1511G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556407	0.00910	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.26518	1.73;1.73;1.73	5.63	5.63	0.86233	.	0.173579	0.49305	D	0.000144	T	0.11793	0.0287	N	0.05383	-0.06	0.40018	D	0.975371	B;B	0.25272	0.122;0.122	B;B	0.23852	0.049;0.049	T	0.09037	-1.0693	10	0.02654	T	1	-8.8136	12.9562	0.58430	0.0:0.9262:0.0:0.0738	.	468;504	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	504;504;468;209	ENSP00000294740:G504D;ENSP00000356322:G504D;ENSP00000356321:G468D	ENSP00000294740:G504D	G	-	2	0	ZNF281	198643946	1.000000	0.71417	0.975000	0.42487	0.945000	0.59286	4.300000	0.59079	2.641000	0.89580	0.650000	0.86243	GGC		0.383	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		90	392	0	0	0	1	0	90	392					T	200377323	C	T	200377323	3	4	79	1	0	0	0	0	1	0	0	0	17871	739	26	2	1180	2	ZNF281	1	200377323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1161	200377323	48873298	1612	11929											
KIF14	9928	broad.mit.edu	37	chr1	200524583	200524583	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcatttctttggtaacCtatagagaatgttaaaatat	6	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTGGTAACCTATAGAGAAT	0.269																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.e28-1		kinesin family member 14							47	50	49					1																	200524583		2198	4281	6479	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200524583C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4354-1G>A	1.37:g.200524583C>T								NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			28	4792	-								Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37		CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222434	0.58668	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5612	0.76249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198791206	0.998000	0.40836	0.347000	0.25668	0.799000	0.45148	4.317000	0.59184	2.682000	0.91365	0.655000	0.94253	.		0.269	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Intron	49	135	0	0	0	1	0	49	135					T	200524583	C	T	200524583	5	4	79	1	0	0	0	0	0	0	1	0	8306	695	24	2	605	2	KIF14	1	200524583	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147260	200524583	48726038	1613	11930											
KIF14	9928	broad.mit.edu	37	chr1	200544719	200544719	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaacaaaattgtctttacCtccttctagaaagtgaagaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1189	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGTCTTTACCTCCTTCTAGA	0.368																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.e22+1		kinesin family member 14							88	82	84					1																	200544719		2203	4300	6503	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200544719C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3566+1G>T	1.37:g.200544719C>A							p.R1189_splice	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			22	4004	-			1189			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37	c.3566_splice	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874539	0.72180	.	.	ENSG00000118193	ENST00000367350	T	0.18502	2.21	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.71581	2.175	0.52099	D	0.999943	D	0.89917	1.0	D	0.71184	0.972	T	0.08106	-1.0738	9	.	.	.	.	11.4977	0.50419	0.0:0.9164:0.0:0.0836	.	1189	Q15058	KIF14_HUMAN	M	1189	ENSP00000356319:R1189M	.	R	-	2	0	KIF14	198811342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.194000	0.51005	2.267000	0.75376	0.563000	0.77884	AGG		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Missense_Mutation	51	237	1	0	1.21353e-23	1	1.38083e-23	51	237					A	200544719	C	A	200544719	5	1	79	1	0	0	0	0	0	0	1	0	8306	695	24	3	1416	3	KIF14	1	200544719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20136	200544719	48705902	1614	11931											
DDX59	83479	broad.mit.edu	37	chr1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcatctactaccacaatCtttacaccacagagttctac	2	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000331314.6	-	4	1257	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000447706.2_Missense_Mutation_p.K348N	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1042-1044)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							122	133	129					1																	200628173		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200628173C>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1044G>T	1.37:g.200628173C>A	ENSP00000330460:p.Lys348Asn					DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000331314.6_Missense_Mutation_p.K348N	p.K348N			Q5T1V6	DDX59_HUMAN			4	1195	-			348			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1044G>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854626	0.32791	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.47528	0.84;0.84;0.84	5.74	-0.954	0.10359	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091215	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.48395	D	0.999647	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.859	T	0.53012	-0.8498	10	0.54805	T	0.06	-22.3311	10.9624	0.47393	0.0:0.4521:0.0:0.5479	.	348;348	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	N	348	ENSP00000394367:K348N;ENSP00000356317:K348N;ENSP00000330460:K348N	ENSP00000330460:K348N	K	-	3	2	DDX59	198894796	1.000000	0.71417	0.222000	0.23844	0.272000	0.26649	0.765000	0.26546	-0.171000	0.10797	-0.781000	0.03364	AAG		0.308	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		88	487	1	0	7.28744e-38	1	8.7633e-38	88	487					A	200628173	C	A	200628173	3	1	79	1	0	0	0	0	1	0	0	0	4387	912	32	3	835	3	DDX59	1	200628173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83454	200628173	48622448	1615	11932											
DDX59	83479	broad.mit.edu	37	chr1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctattattaacacttacctCgaataaagctcgcatgataa	4	9	1	1	rs143810968	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000331314.6	-	2	1015	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000447706.2_Missense_Mutation_p.E268K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	268	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(802-804)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	47	48	48		802	3	0.7	1	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DDX59	NM_001031725.4	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	268/620	200635067	4,13002	2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635067C>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.802G>A	1.37:g.200635067C>T	ENSP00000330460:p.Glu268Lys					DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000331314.6_Missense_Mutation_p.E268K	p.E268K			Q5T1V6	DDX59_HUMAN			2	953	-			268			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.802G>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692739	0.30052	2.27E-4	3.49E-4	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14766	2.48;2.48;2.48	5.2	2.96	0.34315	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.434790	0.26418	N	0.024483	T	0.05547	0.0146	N	0.05487	-0.04	0.26589	N	0.973232	B;B	0.13145	0.002;0.007	B;B	0.12156	0.004;0.007	T	0.40346	-0.9568	10	0.08599	T	0.76	-24.0557	8.2557	0.31756	0.0:0.6967:0.1491:0.1542	.	268;268	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	268	ENSP00000394367:E268K;ENSP00000356317:E268K;ENSP00000330460:E268K	ENSP00000330460:E268K	E	-	1	0	DDX59	198901690	0.577000	0.26708	0.700000	0.30305	0.181000	0.23173	1.146000	0.31589	1.194000	0.43101	0.558000	0.71614	GAG		0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		93	253	0	0	0	1	0	93	253					T	200635067	C	T	200635067	3	4	79	1	0	0	0	0	1	0	0	0	4387	893	31	1	1085	1	DDX59	1	200635067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6894	200635067	48615554	1616	11933											
DDX59	83479	broad.mit.edu	37	chr1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcttctgtagctacaGcatcaacgggaacatctctg	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000331314.6	-	2	344	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000447706.2_Missense_Mutation_p.A44D|RP11-92G12.3_ENST00000568695.1_lincRNA	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	44						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(130-132)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							172	156	162					1																	200635738		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635738G>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.131C>A	1.37:g.200635738G>T	ENSP00000330460:p.Ala44Asp					DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000331314.6_Missense_Mutation_p.A44D	p.A44D			Q5T1V6	DDX59_HUMAN			2	282	-			44					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.131C>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086218	0.07097	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.49;1.49;1.86;0.89	4.95	3.05	0.35203	.	0.565466	0.16340	N	0.218736	T	0.27629	0.0679	L	0.43152	1.355	0.09310	N	1	P;B	0.35077	0.483;0.22	B;B	0.27887	0.084;0.058	T	0.10989	-1.0606	10	0.21540	T	0.41	-0.1895	6.7808	0.23643	0.0857:0.0:0.5331:0.3812	.	44;44	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	44	ENSP00000394367:A44D;ENSP00000356317:A44D;ENSP00000330460:A44D;ENSP00000391312:A44D	ENSP00000330460:A44D	A	-	2	0	DDX59	198902361	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.328000	0.19681	0.494000	0.27859	0.555000	0.69702	GCT		0.483	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		107	501	1	0	4.58063e-37	1	5.49597e-37	107	501					T	200635738	G	T	200635738	3	4	79	1	0	0	0	0	1	0	0	0	4387	971	34	3	1756	3	DDX59	1	200635738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	671	200635738	48614883	1617	11934											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200817351	200817351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagaggaagcagagaGcattgaagaagaacttaata	13	3	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817351G>A	ENST00000236925.4	+	12	1536	c.1487G>A	c.(1486-1488)aGc>aAc	p.S496N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S469N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.S485N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	496					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAGCAGAGAGCATTGAAGAA	0.338																																						ENST00000358823.2																			0											c.(1453-1455)aGc>aAc		calmodulin regulated spectrin-associated protein family, member 2							94	99	97					1																	200817351		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817351G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1487G>A	1.37:g.200817351G>A	ENSP00000236925:p.Ser496Asn					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S496N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S469N	p.S485N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	1724	+			496					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	G	8.304	0.820587	0.16678	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14516	2.51;2.5;2.51	5.62	4.72	0.59763	.	0.524501	0.23091	N	0.052034	T	0.07999	0.0200	N	0.14661	0.345	0.27312	N	0.957287	B;B;B	0.23249	0.082;0.0;0.01	B;B;B	0.25140	0.058;0.0;0.022	T	0.32824	-0.9892	10	0.19147	T	0.46	-5.0869	9.3038	0.37863	0.2044:0.0:0.7956:0.0	.	469;496;485	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	485;469;496	ENSP00000351684:S485N;ENSP00000416800:S469N;ENSP00000236925:S496N	ENSP00000236925:S496N	S	+	2	0	CAMSAP1L1	199083974	1.000000	0.71417	0.916000	0.36221	0.943000	0.58893	3.003000	0.49505	1.375000	0.46248	0.655000	0.94253	AGC		0.338	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		18	424	0	0	0	1	0	18	424					A	200817351	G	A	200817351	3	1	79	1	0	0	0	0	1	0	0	0	2619	971	34	2	1496	2	CAMSAP1L1	1	200817351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181613	200817351	48433270	1618	11935											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200817753	200817753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttccttcagaagataTtcctgaaactatggacgaag	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817753T>G	ENST00000236925.4	+	12	1938	c.1889T>G	c.(1888-1890)aTt>aGt	p.I630S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I603S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.I619S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	630					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCAGAAGATATTCCTGAAACT	0.378																																						ENST00000358823.2																			0											c.(1855-1857)aTt>aGt		calmodulin regulated spectrin-associated protein family, member 2							119	116	117					1																	200817753		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817753T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1889T>G	1.37:g.200817753T>G	ENSP00000236925:p.Ile630Ser					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I630S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I603S	p.I619S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2126	+			630					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1856T>G		.	.	.	.	.	.	.	.	.	.	T	15.45	2.835861	0.50951	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.38722	1.12;1.12;1.12	5.72	5.72	0.89469	.	0.057116	0.64402	D	0.000002	T	0.51176	0.1659	L	0.53249	1.67	0.80722	D	1	P;P;D	0.58970	0.6;0.913;0.984	B;P;P	0.56788	0.187;0.528;0.806	T	0.44298	-0.9337	10	0.09084	T	0.74	-17.6841	16.0204	0.80478	0.0:0.0:0.0:1.0	.	603;630;619	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	619;603;630	ENSP00000351684:I619S;ENSP00000416800:I603S;ENSP00000236925:I630S	ENSP00000236925:I630S	I	+	2	0	CAMSAP1L1	199084376	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.499000	0.81566	2.174000	0.68829	0.533000	0.62120	ATT		0.378	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		139	483	0	0	0	1	0	139	483					G	200817753	T	G	200817753	3	3	79	1	0	0	0	0	1	0	0	0	2619	1493	52	4	1898	4	CAMSAP1L1	1	200817753	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	402	200817753	48432868	1619	11936											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200817897	200817897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtccttgtccaagtaCtgtaagtaccaagtctcagc	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817897C>A	ENST00000236925.4	+	12	2082	c.2033C>A	c.(2032-2034)aCt>aAt	p.T678N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T651N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T667N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	678					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TGTCCAAGTACTGTAAGTACC	0.423																																						ENST00000358823.2																			0											c.(1999-2001)aCt>aAt		calmodulin regulated spectrin-associated protein family, member 2							68	69	69					1																	200817897		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817897C>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2033C>A	1.37:g.200817897C>A	ENSP00000236925:p.Thr678Asn					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T678N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T651N	p.T667N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2270	+			678					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2000C>A		.	.	.	.	.	.	.	.	.	.	C	13.16	2.154833	0.38021	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.45276	0.9;0.9;0.9	5.48	5.48	0.80851	.	0.300843	0.36034	N	0.002838	T	0.34513	0.0900	N	0.24115	0.695	0.39212	D	0.963333	B;B;B	0.32573	0.376;0.259;0.216	B;B;B	0.36845	0.234;0.055;0.086	T	0.12967	-1.0527	10	0.16896	T	0.51	-22.8274	19.3486	0.94374	0.0:1.0:0.0:0.0	.	651;678;667	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	667;651;678	ENSP00000351684:T667N;ENSP00000416800:T651N;ENSP00000236925:T678N	ENSP00000236925:T678N	T	+	2	0	CAMSAP1L1	199084520	1.000000	0.71417	0.506000	0.27664	0.973000	0.67179	4.614000	0.61183	2.546000	0.85860	0.655000	0.94253	ACT		0.423	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		125	311	1	0	9.55279e-52	1	1.18642e-51	125	311					A	200817897	C	A	200817897	3	1	79	1	0	0	0	0	1	0	0	0	2619	565	20	3	2042	3	CAMSAP1L1	1	200817897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144	200817897	48432724	1620	11937											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200819344	200819344	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgaccagaaagtatgCtgtggattcttttttaaggt	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200819344C>A	ENST00000236925.4	+	12	3529	c.3480C>A	c.(3478-3480)tgC>tgA	p.C1160*	CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.C1133*|CAMSAP2_ENST00000358823.2_Nonsense_Mutation_p.C1149*			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1160					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAAAGTATGCTGTGGATTCT	0.353																																						ENST00000358823.2																			0											c.(3445-3447)tgC>tgA		calmodulin regulated spectrin-associated protein family, member 2							99	111	107					1																	200819344		2197	4296	6493	SO:0001587	stop_gained	23271					cytoplasm|microtubule	protein binding	g.chr1:200819344C>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3480C>A	1.37:g.200819344C>A	ENSP00000236925:p.Cys1160*					CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.C1160*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.C1133*	p.C1149*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	3717	+			1160					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Nonsense_Mutation	SNP	ENST00000236925.4	37	c.3447C>A		.	.	.	.	.	.	.	.	.	.	C	41	8.604489	0.98881	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.62	4.71	0.59529	.	0.039744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5258	11.5744	0.50854	0.0:0.8452:0.0:0.1548	.	.	.	.	X	1149;1133;1160	.	ENSP00000236925:C1160X	C	+	3	2	CAMSAP1L1	199085967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.185000	0.50934	1.518000	0.48934	-0.136000	0.14681	TGC		0.353	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		66	458	1	0	7.59065e-32	1	8.94676e-32	66	458					A	200819344	C	A	200819344	4	1	79	1	0	0	0	0	0	1	0	0	2619	805	28	3	3489	3	CAMSAP1L1	1	200819344	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1447	200819344	48431277	1621	11938											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200824013	200824013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattcaggcaagaggacgCcaaggtaaatctataacgta	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200824013C>T	ENST00000236925.4	+	15	3974	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1282S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.P1298S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1309					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CAAGAGGACGCCAAGGTAAAT	0.343																																						ENST00000358823.2																			0											c.(3892-3894)Cca>Tca		calmodulin regulated spectrin-associated protein family, member 2							78	74	76					1																	200824013		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200824013C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3925C>T	1.37:g.200824013C>T	ENSP00000236925:p.Pro1309Ser					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P1309S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1282S	p.P1298S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			14	4162	+			1309					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3892C>T		.	.	.	.	.	.	.	.	.	.	C	14.95	2.689177	0.48097	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.13420	2.6;2.59;2.61	5.93	5.93	0.95920	.	0.253892	0.44902	D	0.000415	T	0.08537	0.0212	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.27416	0.178;0.112;0.178	B;B;B	0.29862	0.108;0.05;0.108	T	0.25641	-1.0126	10	0.07644	T	0.81	-18.2629	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1282;1309;1298	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	1298;1282;1309	ENSP00000351684:P1298S;ENSP00000416800:P1282S;ENSP00000236925:P1309S	ENSP00000236925:P1309S	P	+	1	0	CAMSAP1L1	199090636	1.000000	0.71417	0.894000	0.35097	0.975000	0.68041	4.663000	0.61532	2.814000	0.96858	0.563000	0.77884	CCA		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		50	135	0	0	0	1	0	50	135					T	200824013	C	T	200824013	3	4	79	1	0	0	0	0	1	0	0	0	2619	739	26	2	3946	2	CAMSAP1L1	1	200824013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4669	200824013	48426608	1622	11939											
GPR25	2848	broad.mit.edu	37	chr1	200842741	200842741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggacagccagtgcggCgaggagccctcccacgcctt	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842741C>T	ENST00000304244.2	+	1	659	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCAGTGCGGCGAGGAGCCCT	0.711																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(574-576)ggC>ggT		G protein-coupled receptor 25							8	9	8					1																	200842741		2031	4016	6047	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842741C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.576C>T	1.37:g.200842741C>T							p.G192G	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	659	+			192					A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.576C>T	CCDS1405.1																																																																																				0.711	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		10	131	0	0	0	1	0	10	131					T	200842741	C	T	200842741	2	4	79	1	0	0	0	0	0	0	0	1	6712	755	27	1		1	GPR25	1	200842741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18728	200842741	48407880	1623	11940											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		10	221						10	221	---	---	---	---	-	200842778	TGC	-	200842776	7	5	79	1	0	1	0	1	0	0	0	0	6712	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-IB-7651-01A-11D-2154-08	35	200842776	48407845	1624	11941											
KIF21B	23046	broad.mit.edu	37	chr1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaacagctcctccCttttctggggtcagagggga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000422435.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000332129.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	947					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2839-2841)aGg>aTg		kinesin family member 21B							18	19	18					1																	200959456		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959456C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2840G>T	1.37:g.200959456C>A	ENSP00000411831:p.Arg947Met					KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M|KIF21B_ENST00000422435.2_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M	p.R947M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			20	3156	-			947					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2840G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053658	0.93793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89746	-2.22;-2.52;-2.56;-2.25	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.59767	0.975;0.986;0.975;0.985	P;P;P;P	0.55161	0.466;0.621;0.594;0.77	D	0.94253	0.7495	10	0.87932	D	0	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	947;947;947;947	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	947	ENSP00000328494:R947M;ENSP00000353724:R947M;ENSP00000433808:R947M;ENSP00000411831:R947M	ENSP00000328494:R947M	R	-	2	0	KIF21B	199226079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	2.423000	0.82170	0.655000	0.94253	AGG		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		26	83	1	0	9.57634e-11	1	1.01752e-10	26	83					A	200959456	C	A	200959456	3	1	79	1	0	0	0	0	1	0	0	0	8319	681	24	3	2094	3	KIF21B	1	200959456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116680	200959456	48291165	1625	11942											
KIF21B	23046	broad.mit.edu	37	chr1	200969089	200969089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgaaggcttccttctcGgggctgctcagggaggacag	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000422435.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000332129.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	563					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1687-1689)ccC>ccT		kinesin family member 21B							130	113	119					1																	200969089		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969089G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1689C>T	1.37:g.200969089G>A						KIF21B_ENST00000360529.5_Silent_p.P563P|KIF21B_ENST00000422435.2_Silent_p.P563P|KIF21B_ENST00000461742.2_Silent_p.P563P	p.P563P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			12	2005	-			563					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1689C>T	CCDS58056.1																																																																																				0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		112	327	0	0	0	1	0	112	327					A	200969089	G	A	200969089	2	1	79	1	0	0	0	0	0	0	0	1	8319	1103	39	1		1	KIF21B	1	200969089	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9633	200969089	48281532	1626	11943											
KIF21B	23046	broad.mit.edu	37	chr1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggctcctcaccaggTcgggctgggtgcacatgcgc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000422435.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000332129.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	243	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(727-729)gAc>gGc		kinesin family member 21B							55	53	54					1																	200974440		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200974440T>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.728A>G	1.37:g.200974440T>C	ENSP00000411831:p.Asp243Gly					KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G|KIF21B_ENST00000422435.2_Missense_Mutation_p.D243G|KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G	p.D243G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			5	1044	-			243			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.728A>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664022	0.47572	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	1.55	0.23275	Kinesin, motor domain (4);	0.390814	0.28977	N	0.013533	T	0.54951	0.1890	N	0.14661	0.345	0.52501	D	0.99995	B;B;B;B	0.23185	0.081;0.081;0.0;0.066	B;B;B;B	0.24269	0.052;0.052;0.001;0.031	T	0.45760	-0.9239	10	0.72032	D	0.01	.	8.1806	0.31309	0.0:0.3035:0.0:0.6965	.	243;243;243;243	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	243	ENSP00000328494:D243G;ENSP00000353724:D243G;ENSP00000433808:D243G;ENSP00000411831:D243G	ENSP00000328494:D243G	D	-	2	0	KIF21B	199241063	1.000000	0.71417	0.956000	0.39512	0.911000	0.54048	3.857000	0.55972	0.014000	0.14944	0.533000	0.62120	GAC		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		68	348	0	0	0	1	0	68	348					C	200974440	T	C	200974440	3	2	79	1	0	0	0	0	1	0	0	0	8319	1667	58	4	4266	4	KIF21B	1	200974440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5351	200974440	48276181	1627	11944											
KIF21B	23046	broad.mit.edu	37	chr1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggaatagatctgttcttgCcaggtgtccaggtcgaagac	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000422435.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000332129.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(175-177)tgG>tgT		kinesin family member 21B							135	125	128					1																	200978481		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978481C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.177G>T	1.37:g.200978481C>A	ENSP00000411831:p.Trp59Cys					KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C|KIF21B_ENST00000422435.2_Missense_Mutation_p.W59C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C	p.W59C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			2	493	-			59			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.177G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.53	4.53	0.55603	Kinesin, motor domain (4);	0.302314	0.33534	N	0.004803	T	0.59155	0.2173	N	0.01576	-0.805	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.983;0.992	P;P;P;P	0.60173	0.87;0.87;0.749;0.794	T	0.71656	-0.4527	10	0.56958	D	0.05	.	13.2344	0.59961	0.0:0.8405:0.1595:0.0	.	59;59;59;59	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	59	ENSP00000328494:W59C;ENSP00000353724:W59C;ENSP00000433808:W59C;ENSP00000411831:W59C	ENSP00000328494:W59C	W	-	3	0	KIF21B	199245104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.063000	0.49978	2.341000	0.79615	0.650000	0.86243	TGG		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		77	224	1	0	1.03218e-28	1	1.20291e-28	77	224					A	200978481	C	A	200978481	3	1	79	1	0	0	0	0	1	0	0	0	8319	740	26	3	4829	3	KIF21B	1	200978481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4041	200978481	48272140	1628	11945											
CACNA1S	779	broad.mit.edu	37	chr1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggttggccaagggctcGtcctctggtagcaggcgtct	16	11	2	0	rs550371466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1702					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)			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)	CCAAGGGCTCGTCCTCTGGTA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.001					ENST00000362061.3																			0				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						c.(5104-5106)Cga>Tga		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						81	68	72					1																	201010662		2203	4300	6503	SO:0001587	stop_gained	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201010662G>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.5104C>T	1.37:g.201010662G>A	ENSP00000355192:p.Arg1702*					RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*	p.R1702*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			41	5330	-			1702					A4IF51|B1ALM2|Q12896|Q13934	Nonsense_Mutation	SNP	ENST00000362061.3	37	c.5104C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	46	12.097687	0.99636	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.51	3.6	0.41247	.	3.051100	0.01927	U	0.040939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8773	0.46919	0.0:0.8087:0.1913:0.0	.	.	.	.	X	1702;1683	.	ENSP00000355192:R1702X	R	-	1	2	CACNA1S	199277285	1.000000	0.71417	0.997000	0.53966	0.028000	0.11728	0.826000	0.27407	1.278000	0.44430	-0.375000	0.07067	CGA		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		21	140	0	0	0	1	0	21	140					A	201010662	G	A	201010662	4	1	79	1	0	0	0	0	0	1	0	0	2554	1153	40	1	533	1	CACNA1S	1	201010662	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32181	201010662	48239959	1629	11946											
CACNA1S	779	broad.mit.edu	37	chr1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtacccactcgcggtgaCgcagctctatctgcatgggg	13	12	2	1	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	986					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)			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)	CTCGCGGTGACGCAGCTCTAT	0.602													c|||	3	0.000599042	0.0023	0.0	5008	,	,		21263	0.0		0.0	False		,,,				2504	0.0					ENST00000362061.3																			0				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						c.(2956-2958)cGt>cAt		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	149	100	117		2957	0.6	0.3	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	986/1874	201031168	4,13002	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.chr1:201031168C>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.2957G>A	1.37:g.201031168C>T	ENSP00000355192:p.Arg986His					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			24	3183	-			986					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2957G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336023	0.11013	6.81E-4	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	5.17	0.617	0.17619	Ion transport (1);	0.602245	0.18535	N	0.138397	D	0.94624	0.8267	L	0.37897	1.145	0.09310	N	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.89262	0.3598	10	0.49607	T	0.09	.	6.3595	0.21420	0.0:0.4259:0.0:0.5741	.	986	Q13698	CAC1S_HUMAN	H	986	ENSP00000355192:R986H;ENSP00000356307:R986H	ENSP00000355192:R986H	R	-	2	0	CACNA1S	199297791	0.004000	0.15560	0.349000	0.25694	0.003000	0.03518	0.206000	0.17375	0.288000	0.22398	-0.736000	0.03550	CGT		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		43	129	0	0	0	1	0	43	129					T	201031168	C	T	201031168	3	4	79	1	0	0	0	0	1	0	0	0	2554	536	19	1	2748	1	CACNA1S	1	201031168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20506	201031168	48219453	1630	11947											
CACNA1S	779	broad.mit.edu	37	chr1	201035357	201035357	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgggccctctctcacCttcaaccccttggctctgtt	7	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					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)			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)	CCTCTCTCACCTTCAACCCCT	0.652																																						ENST00000362061.3																			0				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						c.e21+1		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						66	68	67					1																	201035357		2203	4300	6503	SO:0001630	splice_region_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035357C>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.2745+1G>T	1.37:g.201035357C>A						CACNA1S_ENST00000367338.3_Splice_Site_p.K915_splice	p.K915_splice	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			21	2971	-			915					A4IF51|B1ALM2|Q12896|Q13934	Splice_Site	SNP	ENST00000362061.3	37	c.2745_splice	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985117	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98732	-5.1;-5.1	3.91	3.91	0.45181	Ion transport (1);	0.102561	0.64402	D	0.000004	D	0.99339	0.9768	H	0.97564	4.03	0.54753	D	0.999986	P	0.44877	0.845	P	0.56216	0.794	D	0.98563	1.0642	9	.	.	.	.	16.249	0.82472	0.0:1.0:0.0:0.0	.	915	Q13698	CAC1S_HUMAN	N	915	ENSP00000355192:K915N;ENSP00000356307:K915N	.	K	-	3	2	CACNA1S	199301980	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.979000	0.70508	1.884000	0.54569	0.455000	0.32223	AAG		0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation	77	395	1	0	1.71382e-40	1	2.07847e-40	77	395					A	201035357	C	A	201035357	5	1	79	1	0	0	0	0	0	0	1	0	2554	695	24	3	2972	3	CACNA1S	1	201035357	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4189	201035357	48215264	1631	11948											
CACNA1S	779	broad.mit.edu	37	chr1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtcggagcaccctcaGcaccctcaggatcttcacca	10	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	899					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)			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)	AGCACCCTCAGCACCCTCAGG	0.652																																						ENST00000362061.3																			0				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						c.(2695-2697)Ctg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72	73	73					1																	201035407		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.chr1:201035407G>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.2695C>A	1.37:g.201035407G>T	ENSP00000355192:p.Leu899Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			21	2921	-			899					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2695C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305376	0.60305	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99089	-5.41;-5.41	3.91	2.98	0.34508	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99221	0.9729	M	0.88906	2.99	0.44976	D	0.997993	D	0.63046	0.992	D	0.74674	0.984	D	0.99572	1.0971	10	0.87932	D	0	.	11.5358	0.50636	0.0904:0.0:0.9096:0.0	.	899	Q13698	CAC1S_HUMAN	M	899	ENSP00000355192:L899M;ENSP00000356307:L899M	ENSP00000355192:L899M	L	-	1	2	CACNA1S	199302030	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	3.109000	0.50345	0.741000	0.32674	0.455000	0.32223	CTG		0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		90	442	1	0	3.07327e-39	1	3.71448e-39	90	442					T	201035407	G	T	201035407	3	4	79	1	0	0	0	0	1	0	0	0	2554	962	34	3	3022	3	CACNA1S	1	201035407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	201035407	48215214	1632	11949											
CACNA1S	779	broad.mit.edu	37	chr1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttccagcgaaagatgCggttccactgcctccaatgt	10	13	0	1	rs370861322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					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)			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)	GCGAAAGATGCGGTTCCACTG	0.542																																						ENST00000362061.3																			0				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						c.(1255-1257)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	0,4406		0,0,2203	198	162	174		1256	4.6	1	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	419/1874	201052427	1,13005	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.chr1:201052427C>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.1256G>A	1.37:g.201052427C>T	ENSP00000355192:p.Arg419His					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			10	1482	-			419					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1256G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000816	0.74818	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96913	-4.17;-4.08	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.97907	0.9312	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.98438	1.0585	10	0.54805	T	0.06	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	419	Q13698	CAC1S_HUMAN	H	419	ENSP00000355192:R419H;ENSP00000356307:R419H	ENSP00000355192:R419H	R	-	2	0	CACNA1S	199319050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.694000	0.84235	2.232000	0.73038	0.643000	0.83706	CGC		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		87	524	0	0	0	1	0	87	524					T	201052427	C	T	201052427	3	4	79	1	0	0	0	0	1	0	0	0	2554	768	27	1	4505	1	CACNA1S	1	201052427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17020	201052427	48198194	1633	11950											
PKP1	5317	broad.mit.edu	37	chr1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagaccgccttggcgtacGaatgcttccaggaccaggac	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000352845.3	+	1	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000367324.3_Missense_Mutation_p.E13K			Q13835	PKP1_HUMAN	plakophilin 1	13					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(37-39)Gaa>Aaa		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							86	67	74					1																	201252867		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201252867G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.37G>A	1.37:g.201252867G>A	ENSP00000295597:p.Glu13Lys					PKP1_ENST00000367324.3_Missense_Mutation_p.E13K|PKP1_ENST00000352845.3_Missense_Mutation_p.E13K	p.E13K	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			1	288	+			13					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.37G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109651	0.94292	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.61742	0.08;0.08;0.08	5.01	5.01	0.66863	.	3.864160	0.01113	N	0.005600	T	0.71787	0.3381	L	0.27053	0.805	0.42555	D	0.993128	D;D	0.89917	0.999;1.0	D;D	0.75484	0.982;0.986	T	0.56768	-0.7924	10	0.66056	D	0.02	-10.1207	16.4971	0.84248	0.0:0.0:1.0:0.0	.	13;13	Q13835-2;Q13835	.;PKP1_HUMAN	K	13	ENSP00000356293:E13K;ENSP00000263946:E13K;ENSP00000295597:E13K	ENSP00000263946:E13K	E	+	1	0	PKP1	199519490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.057000	0.71119	2.324000	0.78689	0.655000	0.94253	GAA		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		52	149	0	0	0	1	0	52	149					A	201252867	G	A	201252867	3	1	79	1	0	0	0	0	1	0	0	0	12026	1059	37	1	39	1	PKP1	1	201252867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200440	201252867	47997754	1634	11951											
PKP1	5317	broad.mit.edu	37	chr1	201286865	201286865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgaggcagtcagcctcCtgaggagaaccgggaacgcc	14	14	1	2	rs12562244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201286865C>A	ENST00000352845.3	+	5	1012	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PKP1_ENST00000263946.3_Missense_Mutation_p.L338M|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	338					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGTCAGCCTCCTGAGGAGAAC	0.652																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1012-1014)Ctg>Atg		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							32	34	33					1																	201286865		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201286865C>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1012C>A	1.37:g.201286865C>A	ENSP00000295597:p.Leu338Met					PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Missense_Mutation_p.L338M	p.L338M	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			5	1263	+			338					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1012C>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330338	0.81690	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.64260	-0.09;-0.09;-0.09	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.072941	0.56097	D	0.000023	T	0.80265	0.4591	M	0.85777	2.775	0.80722	D	1	D;D	0.58970	0.975;0.984	P;P	0.60415	0.874;0.867	D	0.83888	0.0283	10	0.87932	D	0	-6.6512	18.8834	0.92365	0.0:1.0:0.0:0.0	rs12562244	338;338	Q13835-2;Q13835	.;PKP1_HUMAN	M	338	ENSP00000356293:L338M;ENSP00000263946:L338M;ENSP00000295597:L338M	ENSP00000263946:L338M	L	+	1	2	PKP1	199553488	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.285000	0.58989	2.466000	0.83321	0.551000	0.68910	CTG		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		8	251	1	0	2.52707e-12	1	2.7121e-12	8	251					A	201286865	C	A	201286865	3	1	79	1	0	0	0	0	1	0	0	0	12026	680	24	3	1030	3	PKP1	1	201286865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33998	201286865	47963756	1635	11952											
PKP1	5317	broad.mit.edu	37	chr1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggccgccagaccatgcGtaactactcagggctcattg	11	13	2	1	rs376870836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000352845.3	+	8	1334	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_ENST00000263946.3_Missense_Mutation_p.R445H|PKP1_ENST00000367324.3_Missense_Mutation_p.R424H			Q13835	PKP1_HUMAN	plakophilin 1	445					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1333-1335)cGt>cAt		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	62	66		1334,1271	4.8	1	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKP1	NM_000299.3,NM_001005337.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/748,424/727	201289433	1,13005	2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201289433G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1334G>A	1.37:g.201289433G>A	ENSP00000295597:p.Arg445His					PKP1_ENST00000367324.3_Missense_Mutation_p.R424H|PKP1_ENST00000352845.3_Missense_Mutation_p.R445H	p.R445H	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			8	1585	+			445					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1334G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202281	0.94997	0.0	1.16E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.81247	-1.47;-1.47;-1.47	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92805	0.6259	10	0.87932	D	0	-19.6126	18.2321	0.89937	0.0:0.0:1.0:0.0	.	32;424;445	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	424;445;445	ENSP00000356293:R424H;ENSP00000263946:R445H;ENSP00000295597:R445H	ENSP00000263946:R445H	R	+	2	0	PKP1	199556056	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	8.915000	0.92740	2.375000	0.81037	0.591000	0.81541	CGT		0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		20	202	0	0	0	1	0	20	202					A	201289433	G	A	201289433	3	1	79	1	0	0	0	0	1	0	0	0	12026	1145	40	1	1364	1	PKP1	1	201289433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	201289433	47961188	1636	11953											
TNNT2	7139	broad.mit.edu	37	chr1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgctcattccggatgCgctgctgctcggcccgctct	10	18	3	0	rs397516466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000460780.1_5'Flank	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	149			R -> K.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(415-417)cGc>cAc		troponin T type 2 (cardiac)							46	40	42					1																	201333469		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333469C>T	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.416G>A	1.37:g.201333469C>T	ENSP00000422031:p.Arg139His					TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H	p.R139H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			10	702	-			149		R -> K.			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.416G>A	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318568	0.81469	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.90977	3.165	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	0.83275	0.986;0.992;0.992;0.996;0.993;0.992	D	0.97750	1.0214	10	0.87932	D	0	-11.211	15.2601	0.73615	0.0:1.0:0.0:0.0	.	134;151;148;149;139;149	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	H	139;139;151;141;144;139;139;134;135;80;109;139;134;149	ENSP00000356291:R139H;ENSP00000356287:R139H;ENSP00000387874:R151H;ENSP00000404134:R141H;ENSP00000236918:R144H;ENSP00000356286:R139H;ENSP00000356284:R139H;ENSP00000353535:R134H;ENSP00000356289:R109H;ENSP00000422031:R139H;ENSP00000414036:R134H;ENSP00000402238:R149H	ENSP00000236918:R144H	R	-	2	0	TNNT2	199600092	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.834000	0.69361	1.926000	0.55796	0.491000	0.48974	CGC		0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		24	133	0	0	0	1	0	24	133					T	201333469	C	T	201333469	3	4	79	1	0	0	0	0	1	0	0	0	16383	768	27	1	481	1	TNNT2	1	201333469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44036	201333469	47917152	1637	11954											
TNNT2	7139	broad.mit.edu	37	chr1	201337290	201337290	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctcaaccagagacttacCttctgccctggtctcctcgg	7	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.e5+1		troponin T type 2 (cardiac)							104	78	87					1																	201337290		2203	4300	6503	SO:0001630	splice_region_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201337290C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.133+1G>T	1.37:g.201337290C>A						TNNT2_ENST00000367315.2_Splice_Site_p.E45_splice|TNNT2_ENST00000367317.4_Splice_Site_p.E45_splice|TNNT2_ENST00000367318.5_Splice_Site_p.E45_splice|TNNT2_ENST00000367320.2_Splice_Site_p.D55_splice|TNNT2_ENST00000367322.1_Splice_Site_p.E45_splice|TNNT2_ENST00000360372.4_Splice_Site_p.E40_splice|TNNT2_ENST00000236918.7_Splice_Site_p.E50_splice|TNNT2_ENST00000421663.2_Splice_Site_p.E47_splice|TNNT2_ENST00000458432.2_Splice_Site_p.E57_splice	p.E45_splice	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			5	419	-			55					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Splice_Site	SNP	ENST00000509001.1	37	c.133_splice	CCDS30969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919408|3.919408	0.73098|0.73098	.|.	.|.	ENSG00000118194|ENSG00000118194	ENST00000357848;ENST00000367320;ENST00000412633|ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165	D;D|.	0.99727|.	-6.55;-6.55|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.305164	.|0.25219	.|N	.|0.032250	T|.	0.71169|.	0.3308|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.35656|.	0.514|.	B|.	0.41332|.	0.354|.	T|.	0.74780|.	-0.3549|.	6|.	.|.	.|.	.|.	-4.8104|-4.8104	16.1679|16.1679	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55|.	P45379-3|.	.|.	Y|X	42;55;45|45;45;57;47;50;45;45;40;45;40;55;50	ENSP00000356289:D55Y;ENSP00000408731:D45Y|.	.|.	D|E	-|-	1|1	0|0	TNNT2|TNNT2	199603913|199603913	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.172000|0.172000	0.22775|0.22775	3.582000|3.582000	0.53921|0.53921	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GAT|GAA		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364	Nonsense_Mutation	79	374	1	0	1.26373e-49	1	1.56379e-49	79	374					A	201337290	C	A	201337290	5	1	79	1	0	0	0	0	0	0	1	0	16383	695	24	3	784	3	TNNT2	1	201337290	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3821	201337290	47913331	1638	11955											
TNNI1	7135	broad.mit.edu	37	chr1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcctcaatgtcgtatcGctcctcatccaccacctcca	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	80					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(238-240)Cga>Tga		troponin I type 1 (skeletal, slow)							324	287	299					1																	201382201		2203	4300	6503	SO:0001587	stop_gained	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201382201G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"troponin I, skeletal, slow"			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.238C>T	1.37:g.201382201G>A	ENSP00000354488:p.Arg80*					TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*	p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			6	330	-			80					A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Nonsense_Mutation	SNP	ENST00000361379.4	37	c.238C>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398269	0.83120	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	.	.	.	5.11	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2465	10.757	0.46243	0.0:0.0:0.281:0.719	.	.	.	.	X	80;80;80;80;80;80;59;80	.	ENSP00000337022:R80X	R	-	1	2	TNNI1	199648824	1.000000	0.71417	0.979000	0.43373	0.285000	0.27093	2.223000	0.42936	1.010000	0.39314	0.561000	0.74099	CGA		0.602	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		352	1851	0	0	0	1	0	352	1851					A	201382201	G	A	201382201	4	1	79	1	0	0	0	0	0	1	0	0	16378	1095	38	1	337	1	TNNI1	1	201382201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44911	201382201	47868420	1639	11956											
NAV1	89796	broad.mit.edu	37	chr1	201749585	201749585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcagtagtggactcagCgatgcctcagacaatctcag	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367296.4	+	4	1683	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367302.1_Silent_p.S434S|NAV1_ENST00000367300.3_Silent_p.S421S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	421					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1261-1263)agC>agT		neuron navigator 1							127	115	119					1																	201749585		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749585C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1263C>T	1.37:g.201749585C>T						NAV1_ENST00000367300.3_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367302.1_Silent_p.S434S|IPO9-AS1_ENST00000413035.1_RNA	p.S421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			4	1683	+			421					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1263C>T	CCDS1414.2																																																																																				0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		63	373	0	0	0	1	0	63	373					T	201749585	C	T	201749585	2	4	79	1	0	0	0	0	0	0	0	1	10224	767	27	1		1	NAV1	1	201749585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367384	201749585	47501036	1640	11957											
NAV1	89796	broad.mit.edu	37	chr1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagagtattggctccccaGaaagtactcccaagaaccaa	8	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367296.4	+	6	2704	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	762					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2284-2286)Gaa>Taa		neuron navigator 1							44	43	43					1																	201751924		2203	4300	6503	SO:0001587	stop_gained	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751924G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2284G>T	1.37:g.201751924G>T	ENSP00000356265:p.Glu762*					NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|IPO9-AS1_ENST00000413035.1_RNA	p.E762*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			6	2704	+			762					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	c.2284G>T	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.819315|10.819315	0.99472|0.99472	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|.	.|.	.|.	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	0.177079|.	0.48286|.	D|.	0.000192|.	.|T	.|0.53916	.|0.1826	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63915	.|-0.6529	.|3	0.12103|.	T|.	0.63|.	-28.5937|-28.5937	10.0968|10.0968	0.42480|0.42480	0.1543:0.0:0.8457:0.0|0.1543:0.0:0.8457:0.0	.|.	.|.	.|.	.|.	X|I	775;762;762;762;762;270;371|319	.|.	ENSP00000295624:E762X|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200018547|200018547	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.989000|0.989000	0.77384|0.77384	5.855000|5.855000	0.69510|0.69510	1.336000|1.336000	0.45506|0.45506	-0.218000|-0.218000	0.12543|0.12543	GAA|AGA		0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		74	261	1	0	7.62596e-35	1	9.08233e-35	74	261					T	201751924	G	T	201751924	4	4	79	1	0	0	0	0	0	1	0	0	10224	943	33	3	2363	3	NAV1	1	201751924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2339	201751924	47498697	1641	11958											
NAV1	89796	broad.mit.edu	37	chr1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacttggagtggaagccccaGagctgggcaactggacaggt	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367296.4	+	7	3206	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	929					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2785-2787)aGa>aTa		neuron navigator 1							41	45	43					1																	201752962		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201752962G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2786G>T	1.37:g.201752962G>T	ENSP00000356265:p.Arg929Ile					NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|IPO9-AS1_ENST00000413035.1_RNA	p.R929I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			7	3206	+			929					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.2786G>T	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.510195|3.510195	0.64522|0.64522	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.11;3.11;3.11;3.09;3.11	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.162145	.|0.50627	.|D	.|0.000111	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.47190|0.47190	1.495|1.495	0.52099|0.52099	D|D	0.999944|0.999944	.|P;P;P;D;P	.|0.71674	.|0.806;0.804;0.558;0.998;0.804	.|B;B;B;D;B	.|0.76575	.|0.312;0.324;0.12;0.988;0.324	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.87932	.|D	.|0	-26.312|-26.312	17.2444|17.2444	0.87023|0.87023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|929;538;929;437;929	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|I	486|942;929;929;929;929;437;538	.|ENSP00000356271:R942I;ENSP00000356265:R929I;ENSP00000295624:R929I;ENSP00000356266:R929I;ENSP00000356269:R929I;ENSP00000356264:R538I	.|ENSP00000295624:R929I	Q|R	+|+	3|2	2|0	NAV1|NAV1	200019585|200019585	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.905000|0.905000	0.53344|0.53344	5.349000|5.349000	0.66010|0.66010	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CAG|AGA		0.557	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		83	305	1	0	6.31949e-53	1	7.86834e-53	83	305					T	201752962	G	T	201752962	3	4	79	1	0	0	0	0	1	0	0	0	10224	942	33	3	2869	3	NAV1	1	201752962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1038	201752962	47497659	1642	11959											
NAV1	89796	broad.mit.edu	37	chr1	201757711	201757711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaccctgtccctggcCgagagacccaagggaatgat	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367296.4	+	10	3531	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3109-3111)gcC>gcT		neuron navigator 1							124	108	113					1																	201757711		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757711C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3111C>T	1.37:g.201757711C>T						NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA	p.A1037A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			10	3531	+			1037					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3111C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.6555	9.0935	0.36625	0.1482:0.774:0.0:0.0777	.	.	.	.	X	595	.	.	R	+	1	2	NAV1	200024334	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.526000	0.85167	0.561000	0.74099	CGA		0.617	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		125	590	0	0	0	1	0	125	590					T	201757711	C	T	201757711	2	4	79	1	0	0	0	0	0	0	0	1	10224	639	23	1		1	NAV1	1	201757711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4749	201757711	47492910	1643	11960											
NAV1	89796	broad.mit.edu	37	chr1	201786359	201786359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcattgcctcacctccCgaggataggacagtcaaaga	9	13	2	1	rs371533327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367296.4	+	29	5904	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	NAV1_ENST00000367295.1_Silent_p.P1434P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000367302.1_Silent_p.P1781P|NAV1_ENST00000367300.3_Silent_p.P1768P|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1828					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(5482-5484)ccC>ccT		neuron navigator 1		C	,	0,4406		0,0,2203	85	76	79		4302,5484	-11.1	0.4	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1434/1484,1828/1878	201786359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201786359C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5484C>T	1.37:g.201786359C>T						NAV1_ENST00000367300.3_Silent_p.P1768P|NAV1_ENST00000367295.1_Silent_p.P1434P|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367297.4_Silent_p.P1820P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367302.1_Silent_p.P1781P|IPO9-AS1_ENST00000413035.1_RNA	p.P1828P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			29	5904	+			1828					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.5484C>T	CCDS1414.2																																																																																				0.522	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		52	181	0	0	0	1	0	52	181					T	201786359	C	T	201786359	2	4	79	1	0	0	0	0	0	0	0	1	10224	639	23	1		1	NAV1	1	201786359	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28648	201786359	47464262	1644	11961											
LMOD1	25802	broad.mit.edu	37	chr1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatgctgggagctgcctcCtcctccaccttggccggtcc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(931-933)gaG>gaT		leiomodin 1 (smooth muscle)							68	68	68					1																	201869208		2053	4196	6249	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869208C>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.933G>T	1.37:g.201869208C>A	ENSP00000356257:p.Glu311Asp						p.E311D	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1179	-			311					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.933G>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009822	0.19277	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	5.08	3.95	0.45737	.	0.000000	0.40385	N	0.001120	D	0.85952	0.5817	L	0.45137	1.4	0.33461	D	0.584948	B;B	0.33448	0.355;0.412	B;B	0.27262	0.057;0.078	D	0.87607	0.2501	10	0.38643	T	0.18	-35.2165	9.3458	0.38107	0.0:0.8837:0.0:0.1163	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	D	311;311;260	ENSP00000356257:E311D	ENSP00000356257:E311D	E	-	3	2	LMOD1	200135831	0.530000	0.26330	1.000000	0.80357	0.280000	0.26924	-0.223000	0.09177	2.355000	0.79922	0.505000	0.49811	GAG		0.537	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			62	171	1	0	2.2129e-31	1	2.60483e-31	62	171					A	201869208	C	A	201869208	3	1	79	1	0	0	0	0	1	0	0	0	8889	680	24	3	877	3	LMOD1	1	201869208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82849	201869208	47381413	1645	11962											
RNPEP	6051	broad.mit.edu	37	chr1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcccaactgtgggcagccGaggagctggacatgaaggcc	15	11	0	1	rs371058454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	515					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.0				GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1543-1545)Gag>Aag		arginyl aminopeptidase (aminopeptidase B)		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74	63	67		1543	-3.7	0	1		67	0,8600		0,0,4300	no	missense	RNPEP	NM_020216.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	515/651	201972481	1,13005	2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972481G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1543G>A	1.37:g.201972481G>A	ENSP00000295640:p.Glu515Lys					RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	p.E515K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1586	+			515					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1543G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	0.219	-1.030092	0.02045	2.27E-4	0.0	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.39787	1.06;1.06	5.33	-3.72	0.04411	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	1.082770	0.06964	N	0.816941	T	0.15998	0.0385	N	0.12182	0.205	0.09310	N	1	B;B	0.20052	0.041;0.016	B;B	0.20955	0.032;0.032	T	0.22941	-1.0202	10	0.06757	T	0.87	-6.6993	0.4726	0.00534	0.3803:0.2115:0.1831:0.2251	.	523;515	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	515;476	ENSP00000295640:E515K;ENSP00000356255:E476K	ENSP00000295640:E515K	E	+	1	0	RNPEP	200239104	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.531000	0.06171	-0.692000	0.05128	0.561000	0.74099	GAG		0.587	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		61	170	0	0	0	1	0	61	170					A	201972481	G	A	201972481	3	1	79	1	0	0	0	0	1	0	0	0	13559	1059	37	1	1577	1	RNPEP	1	201972481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103273	201972481	47278140	1646	11963											
ELF3	1999	broad.mit.edu	37	chr1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacctggatcccactgAtggcaagctcttccccagcg	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(667-669)gAt>gGt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							46	46	46					1																	201982144		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982144A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.668A>G	1.37:g.201982144A>G	ENSP00000352673:p.Asp223Gly					ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA	p.D223G			P78545	ELF3_HUMAN			5	3860	+			223						Missense_Mutation	SNP	ENST00000359651.3	37	c.668A>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425493	0.25639	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.53423	2.43;2.43;2.43;0.62	5.37	4.22	0.49857	.	50.140900	0.01575	U	0.020794	T	0.48259	0.1490	M	0.68317	2.08	0.21064	N	0.999799	P	0.36282	0.546	B	0.31614	0.133	T	0.37103	-0.9720	10	0.22109	T	0.4	.	9.9729	0.41765	0.9223:0.0:0.0777:0.0	.	223	P78545	ELF3_HUMAN	G	223;223;223;200;221	ENSP00000352673:D223G;ENSP00000356253:D223G;ENSP00000356252:D223G;ENSP00000405162:D221G	ENSP00000311348:D200G	D	+	2	0	ELF3	200248767	1.000000	0.71417	0.343000	0.25615	0.125000	0.20455	6.381000	0.73163	0.858000	0.35431	0.459000	0.35465	GAT		0.637	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		60	196	0	0	0	1	0	60	196					G	201982144	A	G	201982144	3	3	79	1	0	0	0	0	1	0	0	0	5073	333	12	4	686	4	ELF3	1	201982144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9663	201982144	47268477	1647	11964											
LGR6	59352	broad.mit.edu	37	chr1	202279366	202279366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgctgtccctatgGgatgtgtgccagcttcttca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202279366G>T	ENST00000367278.3	+	16	1537	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	LGR6_ENST00000439764.2_Missense_Mutation_p.G344V|LGR6_ENST00000255432.7_Missense_Mutation_p.G431V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	483					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTCCCTATGGGATGTGTGCC	0.572																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1447-1449)gGg>gTg		leucine-rich repeat containing G protein-coupled receptor 6							159	142	148					1																	202279366		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202279366G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1448G>T	1.37:g.202279366G>T	ENSP00000356247:p.Gly483Val					LGR6_ENST00000255432.7_Missense_Mutation_p.G431V|LGR6_ENST00000439764.2_Missense_Mutation_p.G344V	p.G483V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			16	1537	+			483					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1448G>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862951	0.32884	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.6;1.87	5.71	5.71	0.89125	.	0.167430	0.52532	D	0.000063	T	0.66733	0.2819	L	0.46614	1.455	0.58432	D	0.99999	D;B;P	0.58268	0.982;0.046;0.857	P;B;P	0.61800	0.894;0.037;0.517	T	0.62234	-0.6897	10	0.32370	T	0.25	.	15.3359	0.74255	0.0:0.1392:0.8608:0.0	.	344;431;483	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	483;431;344	ENSP00000356247:G483V;ENSP00000255432:G431V;ENSP00000387869:G344V	ENSP00000255432:G431V	G	+	2	0	LGR6	200545989	1.000000	0.71417	0.320000	0.25306	0.802000	0.45316	6.026000	0.70873	2.679000	0.91253	0.655000	0.94253	GGG		0.572	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	678	1	0	0.000673444	1	0.000681208	10	678					T	202279366	G	T	202279366	3	4	79	1	0	0	0	0	1	0	0	0	8790	1232	43	3	1657	3	LGR6	1	202279366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297222	202279366	46971255	1648	11965											
KDM5B	10765	broad.mit.edu	37	chr1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagggcagggaatgagTttcagcagaacgaactaatt	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1465					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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4393-4395)Act>Gct		lysine (K)-specific demethylase 5B							219	202	208					1																	202698939		2203	4300	6503	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.chr1:202698939T>C	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.4393A>G	1.37:g.202698939T>C	ENSP00000356234:p.Thr1465Ala					KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	p.T1465A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5557	-			1465					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4393A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408742	0.25378	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84146	-1.81;-1.62	5.44	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.242623	0.42964	D	0.000635	T	0.77418	0.4127	L	0.36672	1.1	0.29722	N	0.838543	B;B	0.19073	0.033;0.009	B;B	0.17979	0.02;0.005	T	0.66874	-0.5813	10	0.25106	T	0.35	-4.6225	11.5021	0.50444	0.0:0.0709:0.0:0.9291	.	1501;1465	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	1465;1307;1501	ENSP00000356234:T1465A;ENSP00000356233:T1501A	ENSP00000356233:T1501A	T	-	1	0	KDM5B	200965562	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.409000	0.52657	0.875000	0.35847	0.528000	0.53228	ACT		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		225	667	0	0	0	1	0	225	667					C	202698939	T	C	202698939	3	2	79	1	0	0	0	0	1	0	0	0	8164	1725	60	4	249	4	KDM5B	1	202698939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	419573	202698939	46551682	1649	11966											
KDM5B	10765	broad.mit.edu	37	chr1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcaggaagggatacctGgagcagctgggcttccatca	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1357					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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4069-4071)Cag>Tag		lysine (K)-specific demethylase 5B							93	84	87					1																	202700144		2203	4300	6503	SO:0001587	stop_gained	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.chr1:202700144G>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.4069C>T	1.37:g.202700144G>A	ENSP00000356234:p.Gln1357*					KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	p.Q1357*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			25	5233	-			1357					O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	c.4069C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	48	14.013494	0.99775	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.14	6.14	0.99180	.	0.100675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.1782	20.4548	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	1357;1199;1393;1199	.	ENSP00000235790:Q1199X	Q	-	1	0	KDM5B	200966767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	CAG		0.458	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		46	220	0	0	0	1	0	46	220					A	202700144	G	A	202700144	4	1	79	1	0	0	0	0	0	1	0	0	8164	1357	47	2	577	2	KDM5B	1	202700144	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205	202700144	46550477	1650	11967											
KDM5B	10765	broad.mit.edu	37	chr1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagtgtgtctaacactgGcacacgtcctccagcctaat	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1034					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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3100-3102)Cca>Tca		lysine (K)-specific demethylase 5B							86	79	81					1																	202705505		2203	4300	6503	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.chr1:202705505G>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.3100C>T	1.37:g.202705505G>A	ENSP00000356234:p.Pro1034Ser					KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	p.P1034S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			21	4264	-			1034					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3100C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763091	0.89932	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.55052	0.54;0.54;0.54	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.099013	0.64402	D	0.000001	T	0.75436	0.3849	M	0.81497	2.545	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.964	T	0.77225	-0.2666	10	0.72032	D	0.01	-6.9268	20.1253	0.97977	0.0:0.0:1.0:0.0	.	1070;1034	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	1034;876;1070;876	ENSP00000356234:P1034S;ENSP00000356233:P1070S;ENSP00000235790:P876S	ENSP00000235790:P876S	P	-	1	0	KDM5B	200972128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	2.832000	0.97577	0.655000	0.94253	CCA		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		22	297	0	0	0	1	0	22	297					A	202705505	G	A	202705505	3	1	79	1	0	0	0	0	1	0	0	0	8164	1203	42	2	1562	2	KDM5B	1	202705505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5361	202705505	46545116	1651	11968											
KDM5B	10765	broad.mit.edu	37	chr1	202731903	202731903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataatctttcctctcaataGgttcttgcttgatgctactc	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202731903G>T	ENST00000367265.3	-	7	2006	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	281					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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCTCAATAGGTTCTTGCTT	0.408																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(841-843)cCt>cAt		lysine (K)-specific demethylase 5B							299	292	295					1																	202731903		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.chr1:202731903G>T	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.842C>A	1.37:g.202731903G>T	ENSP00000356234:p.Pro281His					KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	p.P281H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			7	2006	-			281					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.842C>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880655	0.51801	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86230	-1.99;-1.81;-2.09	5.46	4.55	0.56014	.	0.286976	0.42053	D	0.000769	D	0.83252	0.5214	L	0.39898	1.24	0.09310	N	1	D;P	0.61697	0.99;0.928	P;P	0.52031	0.688;0.664	T	0.72988	-0.4124	10	0.20519	T	0.43	-2.7053	6.0717	0.19893	0.2019:0.0:0.7981:0.0	.	317;281	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	281;123;317;123	ENSP00000356234:P281H;ENSP00000356233:P317H;ENSP00000235790:P123H	ENSP00000235790:P123H	P	-	2	0	KDM5B	200998526	0.090000	0.21635	0.760000	0.31359	0.748000	0.42578	1.460000	0.35244	2.554000	0.86153	0.561000	0.74099	CCT		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		27	1045	1	0	5.35356e-11	1	5.69577e-11	27	1045					T	202731903	G	T	202731903	3	4	79	1	0	0	0	0	1	0	0	0	8164	1000	35	3	3876	3	KDM5B	1	202731903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26398	202731903	46518718	1652	11969											
KDM5B	10765	broad.mit.edu	37	chr1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaactgcaaatccaccttCttctgcaactaactgttaaa	3	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	140	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(418-420)Gaa>Aaa		lysine (K)-specific demethylase 5B							115	104	108					1																	202742404		2203	4300	6503	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.chr1:202742404C>T	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.418G>A	1.37:g.202742404C>T	ENSP00000356234:p.Glu140Lys					KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			4	1582	-			140			ARID.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.418G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488816	0.84962	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62941	-0.01;-0.01	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.092379	0.85682	D	0.000000	T	0.59445	0.2194	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.45569	0.861;0.104	P;B	0.45712	0.491;0.262	T	0.57347	-0.7827	10	0.36615	T	0.2	-25.1694	16.9763	0.86314	0.0:0.8728:0.1272:0.0	.	140;140	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	140	ENSP00000356234:E140K;ENSP00000356233:E140K	ENSP00000356233:E140K	E	-	1	0	KDM5B	201009027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.118000	0.71583	2.740000	0.93945	0.563000	0.77884	GAA		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		32	383	0	0	0	1	0	32	383					T	202742404	C	T	202742404	3	4	79	1	0	0	0	0	1	0	0	0	8164	922	32	2	4312	2	KDM5B	1	202742404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10501	202742404	46508217	1653	11970											
KLHL12	59349	broad.mit.edu	37	chr1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcattgtaaactacagCggatgaaaggctgaaatata	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	243					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAAACTACAGCGGATGAAAGG	0.453																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(727-729)cGc>cAc		kelch-like family member 12							89	94	93					1																	202878242		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202878242C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.728G>A	1.37:g.202878242C>T	ENSP00000356230:p.Arg243His					KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	p.R243H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	946	-			243					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.728G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009934	0.93346	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69306	-0.38;-0.39;-0.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.82433	2.59	0.80722	D	1	D;D;B	0.71674	0.981;0.998;0.013	B;P;B	0.54346	0.377;0.749;0.002	T	0.83233	-0.0062	10	0.66056	D	0.02	.	19.3442	0.94357	0.0:1.0:0.0:0.0	.	281;281;243	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	243;281;281	ENSP00000356230:R243H;ENSP00000416886:R281H;ENSP00000356227:R281H	ENSP00000356227:R281H	R	-	2	0	KLHL12	201144865	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.358000	0.79466	2.641000	0.89580	0.563000	0.77884	CGC		0.453	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		17	475	0	0	0	1	0	17	475					T	202878242	C	T	202878242	3	4	79	1	0	0	0	0	1	0	0	0	8398	768	27	1	1006	1	KLHL12	1	202878242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135838	202878242	46372379	1654	11971											
ADIPOR1	51094	broad.mit.edu	37	chr1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtagatgagccgtggCtgtggggagcagtagaagga	20	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H|ADIPOR1_ENST00000367254.3_Splice_Site	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	233					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGAGCCGTGGCTGTGGGGAGC	0.507																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(697-699)caG>caT		adiponectin receptor 1							69	63	65					1																	202912992		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202912992C>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.699G>T	1.37:g.202912992C>A	ENSP00000341785:p.Gln233His					ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	p.Q233H	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		6	997	-			233					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.699G>T	CCDS1430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152560|4.152560	0.78001|0.78001	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.99|5.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.25791	.|0.0628	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.27715	.|0.082	.|T	.|0.04216	.|-1.0968	.|10	.|0.15066	.|T	.|0.55	.|.	13.5456|13.5456	0.61702|0.61702	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|233	.|Q96A54	.|ADR1_HUMAN	.|H	-1|233	.|ENSP00000341785:Q233H;ENSP00000395469:Q233H;ENSP00000402178:Q233H	.|ENSP00000341785:Q233H	.|Q	-|-	.|3	.|2	ADIPOR1|ADIPOR1	201179615|201179615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.050000|4.050000	0.57404|0.57404	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	.|CAG		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		40	166	1	0	5.71845e-15	1	6.23116e-15	40	166					A	202912992	C	A	202912992	3	1	79	1	0	0	0	0	1	0	0	0	318	796	28	3	440	3	ADIPOR1	1	202912992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34750	202912992	46337629	1655	11972											
ADIPOR1	51094	broad.mit.edu	37	chr1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaaggagggcatgggagGtctatgaccatgtagcagat	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	116					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGCATGGGAGGTCTATGACCA	0.502																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(346-348)Cct>Tct		adiponectin receptor 1							218	171	187					1																	202915651		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915651G>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.346C>T	1.37:g.202915651G>A	ENSP00000341785:p.Pro116Ser					ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	644	-			116					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.346C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928091	0.92389	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96934	0.9683	10	0.38643	T	0.18	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	116	Q96A54	ADR1_HUMAN	S	116	ENSP00000341785:P116S;ENSP00000395469:P116S;ENSP00000402178:P116S;ENSP00000356223:P116S;ENSP00000392946:P116S	ENSP00000341785:P116S	P	-	1	0	ADIPOR1	201182274	1.000000	0.71417	0.127000	0.21898	0.796000	0.44982	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT		0.502	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		124	356	0	0	0	1	0	124	356					A	202915651	G	A	202915651	3	1	79	1	0	0	0	0	1	0	0	0	318	1261	44	2	801	2	ADIPOR1	1	202915651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2659	202915651	46334970	1656	11973											
CYB5R1	51706	broad.mit.edu	37	chr1	202932821	202932821	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcttcagggactttcagGatggcccggatcagctgtag	14	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	198					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	GGACTTTCAGGATGGCCCGGA	0.512																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(592-594)atC>atT		cytochrome b5 reductase 1							130	107	115					1																	202932821		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932821G>A	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.594C>T	1.37:g.202932821G>A						CYB5R1_ENST00000497655.1_5'UTR	p.I198I	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		7	668	-			198					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.594C>T	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255216	0.22965	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-5.9597	12.7787	0.57464	0.0791:0.0:0.9209:0.0	.	.	.	.	F	130	.	.	S	-	2	0	CYB5R1	201199444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.985000	0.49362	1.499000	0.48617	0.655000	0.94253	TCC		0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		4	79	0	0	0	1	0	4	79					A	202932821	G	A	202932821	2	1	79	1	0	0	0	0	0	0	0	1	4137	1164	41	2		2	CYB5R1	1	202932821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17170	202932821	46317800	1657	11974											
CYB5R1	51706	broad.mit.edu	37	chr1	202934626	202934626	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtgcacacccttcaggtaGaccttacaagacagagagaa	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	116	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CCTTCAGGTAGACCTTACAAG	0.507																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(346-348)gtC>gtA		cytochrome b5 reductase 1							111	105	107					1																	202934626		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202934626G>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.348C>A	1.37:g.202934626G>T							p.V116V	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	422	-			116			FAD-binding FR-type.		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.348C>A	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823595	0.32237	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	-0.626	0.11544	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-5.3569	9.1318	0.36850	0.1388:0.4715:0.3897:0.0	.	.	.	.	Y	48	.	.	S	-	2	0	CYB5R1	201201249	0.985000	0.35326	0.968000	0.41197	0.867000	0.49689	0.224000	0.17738	-0.365000	0.08076	0.591000	0.81541	TCT		0.507	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		51	606	1	0	1.67886e-27	1	1.94484e-27	51	606					T	202934626	G	T	202934626	2	4	79	1	0	0	0	0	0	0	0	1	4137	929	33	3		3	CYB5R1	1	202934626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	202934626	46315995	1658	11975											
PPFIA4	8497	broad.mit.edu	37	chr1	203033018	203033018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggctacccagcctgggGctcccgcagtaccgcagcta	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000447715.2	+	30	3312	c.2871G>A	c.(2869-2871)ggG>ggA	p.G957G	PPFIA4_ENST00000414050.2_Silent_p.G686G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000367240.2_Silent_p.G958G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	957	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGCCTGGGGCTCCCGCAGT	0.592																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2872-2874)ggG>ggA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							58	67	63					1																	203033018		2203	4300	6503	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203033018G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2871G>A	1.37:g.203033018G>A						PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000447715.2_Silent_p.G957G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G	p.G958G			O75335	LIPA4_HUMAN			24	3401	+			473					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.2874G>A																																																																																					0.592	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		64	353	0	0	0	1	0	64	353					A	203033018	G	A	203033018	2	1	79	1	0	0	0	0	0	0	0	1	12354	1190	42	2		2	PPFIA4	1	203033018	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98392	203033018	46217603	1659	11976											
MYOG	4656	broad.mit.edu	37	chr1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccggtccacggacaccGacttcctcttacacacctta	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	77					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672																																						ENST00000241651.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						c.(229-231)tCg>tTg		myogenin (myogenic factor 4)							60	66	64					1																	203054860		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054860G>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"Basic helix-loop-helix proteins"	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.230C>T	1.37:g.203054860G>A	ENSP00000241651:p.Ser77Leu						p.S77L	NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN			1	304	-			77					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.230C>T	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724384	0.68959	.	.	ENSG00000122180	ENST00000241651	T	0.80033	-1.33	5.69	5.69	0.88448	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.102169	0.64402	D	0.000003	T	0.78997	0.4372	L	0.57536	1.79	0.46298	D	0.998971	P	0.44429	0.835	B	0.40066	0.318	T	0.82283	-0.0534	10	0.87932	D	0	-18.011	16.1007	0.81169	0.0:0.1337:0.8663:0.0	.	77	P15173	MYOG_HUMAN	L	77	ENSP00000241651:S77L	ENSP00000241651:S77L	S	-	2	0	MYOG	201321483	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.896000	0.87350	2.683000	0.91414	0.563000	0.77884	TCG		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		221	602	0	0	0	1	0	221	602					A	203054860	G	A	203054860	3	1	79	1	0	0	0	0	1	0	0	0	10131	1059	37	1	456	1	MYOG	1	203054860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21842	203054860	46195761	1660	11977											
CHIT1	1118	broad.mit.edu	37	chr1	203186203	203186203	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccatgctcaggttcagaGggctgacctggttttggaac	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203186203G>T	ENST00000367229.1	-	11	1249	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	CHIT1_ENST00000535569.1_Silent_p.P396P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	405					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGTTCAGAGGGCTGACCTG	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1213-1215)ccC>ccA		chitinase 1 (chitotriosidase)							77	77	77					1																	203186203		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186203G>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1215C>A	1.37:g.203186203G>T			OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P|CHIT1_ENST00000535569.1_Silent_p.P396P	p.P405P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			11	1249	-			405					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.1215C>A	CCDS1436.1																																																																																				0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		12	409	1	0	0.000978159	1	0.000988919	12	409					T	203186203	G	T	203186203	2	4	79	1	0	0	0	0	0	0	0	1	3355	987	35	3		3	CHIT1	1	203186203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131343	203186203	46064418	1661	11978											
CHIT1	1118	broad.mit.edu	37	chr1	203192262	203192262	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatctgcctgagactcaCtgggcgattttgtccacctc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000535569.1_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)						chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.e6+1		chitinase 1 (chitotriosidase)							139	132	134					1																	203192262		2203	4300	6503	SO:0001630	splice_region_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192262C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.605+1G>T	1.37:g.203192262C>A						CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site|CHIT1_ENST00000535569.1_Splice_Site		NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			6	640	-								B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Splice_Site	SNP	ENST00000367229.1	37		CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156689	0.38119	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.62	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9969	0.47582	0.0:0.9062:0.0:0.0938	.	.	.	.	.	-1	.	.	.	-	.	.	CHIT1	201458885	1.000000	0.71417	0.739000	0.30968	0.434000	0.31775	5.178000	0.65037	1.032000	0.39892	0.655000	0.94253	.		0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	Intron	163	738	1	0	7.28047e-80	1	9.30738e-80	163	738					A	203192262	C	A	203192262	5	1	79	1	0	0	0	0	0	0	1	0	3355	579	20	3	818	3	CHIT1	1	203192262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6059	203192262	46058359	1662	11979											
CHIT1	1118	broad.mit.edu	37	chr1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgttccttccctgaggTctgggcttcctgctggaagg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	172					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(514-516)Acc>Ccc		chitinase 1 (chitotriosidase)							121	112	115					1																	203192354		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192354T>G	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.514A>C	1.37:g.203192354T>G	ENSP00000356198:p.Thr172Pro					CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P|CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P	p.T172P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			6	548	-			172					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.514A>C	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030107	0.07543	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35048	1.33;1.33;1.33	4.62	-9.25	0.00666	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.613330	0.01479	N	0.016587	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.08066	-1.0740	10	0.29301	T	0.29	-6.2198	4.2602	0.10737	0.3045:0.4553:0.1027:0.1376	.	163;172	G5EA51;Q13231	.;CHIT1_HUMAN	P	172;153;163	ENSP00000356198:T172P;ENSP00000255427:T153P;ENSP00000438078:T163P	ENSP00000255427:T153P	T	-	1	0	CHIT1	201458977	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-2.245000	0.00705	-0.333000	0.08304	ACC		0.612	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		161	524	0	0	0	1	0	161	524					G	203192354	T	G	203192354	3	3	79	1	0	0	0	0	1	0	0	0	3355	1667	58	4	910	4	CHIT1	1	203192354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	203192354	46058267	1663	11980											
CHIT1	1118	broad.mit.edu	37	chr1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtcaaagctgtatttgCgcagaaacctgatggccgag	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	128					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(382-384)cGc>cAc		chitinase 1 (chitotriosidase)							154	139	144					1																	203192720		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192720C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.383G>A	1.37:g.203192720C>T	ENSP00000356198:p.Arg128His					CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H	p.R128H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			5	417	-			128					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.383G>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847641	0.51164	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07114	3.22;3.22;3.22	5.0	4.09	0.47781	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.132232	0.34906	N	0.003582	T	0.27765	0.0683	M	0.76938	2.355	0.49389	D	0.99978	D;D	0.89917	0.998;1.0	P;D	0.91635	0.87;0.999	T	0.01468	-1.1347	10	0.66056	D	0.02	-5.7151	11.2471	0.49004	0.0:0.9098:0.0:0.0902	.	119;128	G5EA51;Q13231	.;CHIT1_HUMAN	H	128;109;119	ENSP00000356198:R128H;ENSP00000255427:R109H;ENSP00000438078:R119H	ENSP00000255427:R109H	R	-	2	0	CHIT1	201459343	0.998000	0.40836	0.503000	0.27626	0.339000	0.28857	4.054000	0.57434	1.084000	0.41184	0.643000	0.83706	CGC		0.567	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		149	582	0	0	0	1	0	149	582					T	203192720	C	T	203192720	3	4	79	1	0	0	0	0	1	0	0	0	3355	768	27	1	1045	1	CHIT1	1	203192720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	203192720	46057901	1664	11981											
BTG2	7832	broad.mit.edu	37	chr1	203274801	203274801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggcttcctctccagcCtcctgaggacccggggctgc	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	ENST00000290551.4	+	1	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	23					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCTCCAGCCTCCTGAGGAC	0.697																																						ENST00000290551.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(67-69)Ctc>Atc		BTG family, member 2							17	16	16					1																	203274801		2173	4271	6444	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203274801C>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.67C>A	1.37:g.203274801C>A	ENSP00000290551:p.Leu23Ile						p.L23I	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		1	138	+			23					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.67C>A	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654850	0.67472	.	.	ENSG00000159388	ENST00000290551	T	0.26373	1.74	4.66	3.73	0.42828	Anti-proliferative protein (3);	0.000000	0.64402	D	0.000017	T	0.27933	0.0688	M	0.63169	1.94	0.43766	D	0.996284	B	0.22414	0.069	B	0.33750	0.169	T	0.07539	-1.0767	10	0.33940	T	0.23	-39.2938	8.6148	0.33824	0.0:0.8197:0.0:0.1803	.	23	P78543	BTG2_HUMAN	I	23	ENSP00000290551:L23I	ENSP00000290551:L23I	L	+	1	0	BTG2	201541424	0.980000	0.34600	1.000000	0.80357	0.753000	0.42808	1.433000	0.34947	2.425000	0.82216	0.478000	0.44815	CTC		0.697	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		8	25	1	0	0.000274275	1	0.000278163	8	25					A	203274801	C	A	203274801	3	1	79	1	0	0	0	0	1	0	0	0	1558	681	24	3	69	3	BTG2	1	203274801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82081	203274801	45975820	1665	11982											
PRELP	5549	broad.mit.edu	37	chr1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcacccctctgctggCtcctcccacttctcatcttg	7	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	8					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)			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)			CCTCTGCTGGCTCCTCCCACT	0.592																																						ENST00000343110.2																			0				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						c.(22-24)Ctc>Atc		proline/arginine-rich end leucine-rich repeat protein							85	89	87					1																	203452334		2203	4298	6501	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452334C>A	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.22C>A	1.37:g.203452334C>A	ENSP00000343924:p.Leu8Ile						p.L8I	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	149	+			8					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.22C>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215986	0.39201	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	5.09	-0.72	0.11195	.	0.975835	0.08385	N	0.953853	T	0.18087	0.0434	N	0.08118	0	0.35990	D	0.836638	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.13470	T	0.59	-1.156	4.4875	0.11797	0.234:0.4619:0.2291:0.075	.	8	P51888	PRELP_HUMAN	I	8	ENSP00000343924:L8I	ENSP00000343924:L8I	L	+	1	0	PRELP	201718957	0.069000	0.21087	1.000000	0.80357	0.988000	0.76386	-1.025000	0.03600	0.151000	0.19162	0.462000	0.41574	CTC		0.592	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		134	674	1	0	1.35261e-66	1	1.71214e-66	134	674					A	203452334	C	A	203452334	3	1	79	1	0	0	0	0	1	0	0	0	12520	797	28	3	24	3	PRELP	1	203452334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177533	203452334	45798287	1666	11983											
ATP2B4	493	broad.mit.edu	37	chr1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatctgaagcaggatTatcaggctgtgcgtaatgaa	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	550					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAGGATTATCAGGCTGT	0.542																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1648-1650)Tat>Cat		ATPase, Ca++ transporting, plasma membrane 4							100	87	92					1																	203678519		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678519T>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1648T>C	1.37:g.203678519T>C	ENSP00000350310:p.Tyr550His					ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H	p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2771	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		550					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1648T>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330841	0.60853	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.48286	D	0.000184	D	0.97692	0.9243	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;P;D	0.91635	0.999;0.848;0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-12.6719	15.3051	0.73987	0.0:0.0:0.0:1.0	.	550;550;550	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	550;550;538;550;550	ENSP00000350310:Y550H;ENSP00000356187:Y550H;ENSP00000356188:Y538H;ENSP00000375816:Y550H;ENSP00000340930:Y550H	ENSP00000340930:Y550H	Y	+	1	0	ATP2B4	201945142	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	8.008000	0.88588	2.094000	0.63399	0.460000	0.39030	TAT		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		11	440	0	0	0	1	0	11	440					C	203678519	T	C	203678519	3	2	79	1	0	0	0	0	1	0	0	0	1143	1754	61	4	1686	4	ATP2B4	1	203678519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	226185	203678519	45572102	1667	11984											
LAX1	54900	broad.mit.edu	37	chr1	203743398	203743398	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggagaaggttcttcTcagatctcaaatgactatgt	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367217.5_Silent_p.S246S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	262					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGTTCTTCTCAGATCTCAA	0.488																																						ENST00000442561.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(784-786)tcT>tcG		lymphocyte transmembrane adaptor 1							73	74	74					1																	203743398		2203	4300	6503	SO:0001819	synonymous_variant	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743398T>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.786T>G	1.37:g.203743398T>G						LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.S246S	p.S262S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1176	+	all_cancers(21;0.0915)		262					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Silent	SNP	ENST00000442561.2	37	c.786T>G	CCDS1441.2																																																																																				0.488	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		17	192	0	0	0	1	0	17	192					G	203743398	T	G	203743398	2	3	79	1	0	0	0	0	0	0	0	1	8679	1538	54	4		4	LAX1	1	203743398	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64879	203743398	45507223	1668	11985											
ZC3H11A	9877	broad.mit.edu	37	chr1	203817479	203817479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaagaagagaagaacCttcaggaaggaaatgaagtt	13	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203817479C>A	ENST00000545588.1	+	13	5394	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	523					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGAAGAACCTTCAGGAAGG	0.303																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1567-1569)Ctt>Att		zinc finger CCCH-type containing 11A							125	126	126					1																	203817479		2203	4298	6501	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203817479C>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1567C>A	1.37:g.203817479C>A	ENSP00000438527:p.Leu523Ile					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I	p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		13	5394	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		523					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1567C>A	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083034	0.36758	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.65	2.73	0.32206	.	0.188080	0.32918	N	0.005483	T	0.41143	0.1146	M	0.65975	2.015	0.28449	N	0.916402	P	0.36959	0.575	B	0.35607	0.206	T	0.31392	-0.9945	10	0.37606	T	0.19	-16.4057	6.7541	0.23503	0.0:0.6956:0.1442:0.1602	.	523	O75152	ZC11A_HUMAN	I	523;469;523;523;523;523	ENSP00000356183:L523I;ENSP00000356181:L523I;ENSP00000333253:L523I;ENSP00000438527:L523I;ENSP00000356179:L523I	ENSP00000333253:L523I	L	+	1	0	ZC3H11A	202084102	0.293000	0.24371	0.946000	0.38457	0.973000	0.67179	0.819000	0.27308	0.398000	0.25338	-0.143000	0.13931	CTT		0.303	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	426	1	0	0.00621372	1	0.0062537	8	426					A	203817479	C	A	203817479	3	1	79	1	0	0	0	0	1	0	0	0	17613	681	24	3	1613	3	ZC3H11A	1	203817479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74081	203817479	45433142	1669	11986											
SNRPE	6635	broad.mit.edu	37	chr1	203839004	203839004	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgtttttgtgttgcaGgtcggatcatgctaaaagga	12	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E						gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGTTGCAGGTCGGATCAT	0.333																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			0				breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.e5-1		small nuclear ribonucleoprotein polypeptide E							169	163	165					1																	203839004		2203	4300	6503	SO:0001630	splice_region_variant	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203839004G>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.224-1G>A	1.37:g.203839004G>A						SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_Splice_Site		NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	268	+	all_cancers(21;0.103)							B2R5B9|P08578|Q15498|Q5BKT2	Splice_Site	SNP	ENST00000414487.2	37		CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440462	0.63067	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRPE	202105627	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.895000	0.87343	2.861000	0.98227	0.655000	0.94253	.		0.333	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094	Intron	23	131	0	0	0	1	0	23	131					A	203839004	G	A	203839004	5	1	79	1	0	0	0	0	0	0	1	0	14917	1014	35	2	241	2	SNRPE	1	203839004	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21525	203839004	45411617	1670	11987											
SOX13	9580	broad.mit.edu	37	chr1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgctgcacagccccCctgccccagtggtgaagagg	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	270	Pro-rich.			P -> L (in Ref. 4; AAD50120). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCACAGCCCCCCTGCCCCAGT	0.622																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(808-810)Cct>Tct		SRY (sex determining region Y)-box 13							41	43	42					1																	204091060		2007	4171	6178	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204091060C>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.808C>T	1.37:g.204091060C>T	ENSP00000356172:p.Pro270Ser						p.P270S	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	917	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		270	P -> L (in Ref. 4; AAD50120).		Pro-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.808C>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164944	0.09287	.	.	ENSG00000143842	ENST00000367204	D	0.97620	-4.46	4.95	4.03	0.46877	.	0.103506	0.64402	D	0.000003	D	0.95252	0.8460	L	0.56769	1.78	0.32679	N	0.515761	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.002;0.003;0.003	D	0.94865	0.8025	10	0.59425	D	0.04	.	13.4842	0.61355	0.0:0.8434:0.1566:0.0	.	137;137;270	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	270	ENSP00000356172:P270S	ENSP00000356172:P270S	P	+	1	0	SOX13	202357683	0.380000	0.25131	0.838000	0.33150	0.942000	0.58702	2.406000	0.44557	1.039000	0.40074	0.561000	0.74099	CCT		0.622	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		18	128	0	0	0	1	0	18	128					T	204091060	C	T	204091060	3	4	79	1	0	0	0	0	1	0	0	0	14994	623	22	2	834	2	SOX13	1	204091060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252056	204091060	45159561	1671	11988											
ETNK2	55224	broad.mit.edu	37	chr1	204109165	204109165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatgcccctctcacctGcaaactcattgaaatggttg	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	ENST00000367202.4	-	5	1016	c.866C>T	c.(865-867)gCa>gTa	p.A289V	ETNK2_ENST00000367199.2_Missense_Mutation_p.A220V|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V|RP11-74C13.3_ENST00000433869.1_RNA	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	289					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTCACCTGCAAACTCATT	0.428																																						ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(658-660)gCa>gTa		ethanolamine kinase 2							162	136	145					1																	204109165		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204109165G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.866C>T	1.37:g.204109165G>A	ENSP00000356170:p.Ala289Val					ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367202.4_Missense_Mutation_p.A289V|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V	p.A220V			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1069	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		289					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.659C>T	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.679705|5.679705	0.96774|0.96774	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23;0.23|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76891|.	0.4051|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.994;1.0;1.0|.	P;D;D|.	0.85130|.	0.88;0.996;0.997|.	T|.	0.77362|.	-0.2616|.	10|.	0.46703|.	T|.	0.11|.	-22.5584|-22.5584	16.9596|16.9596	0.86269|0.86269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;289;289|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	V|X	289;289;220;155;111;155;146;135|52	ENSP00000356169:A289V;ENSP00000356170:A289V;ENSP00000356167:A220V;ENSP00000356166:A111V;ENSP00000405497:A155V;ENSP00000398091:A146V;ENSP00000406241:A135V|.	ENSP00000356166:A111V|.	A|Q	-|-	2|1	0|0	ETNK2|ETNK2	202375788|202375788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.928000|8.928000	0.92853|0.92853	2.525000|2.525000	0.85131|0.85131	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.428	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		101	304	0	0	0	1	0	101	304					A	204109165	G	A	204109165	3	1	79	1	0	0	0	0	1	0	0	0	5292	1319	46	2	310	2	ETNK2	1	204109165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18105	204109165	45141456	1672	11989											
REN	5972	broad.mit.edu	37	chr1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagtagaaagagaagaCgtcctcttttagcacccctt	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000272190.8	-	5	695	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000367195.2_Missense_Mutation_p.V223I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	223					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(667-669)Gtc>Atc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						112	102	106					1																	204128549		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128549C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.667G>A	1.37:g.204128549C>T	ENSP00000272190:p.Val223Ile					REN_ENST00000272190.8_Missense_Mutation_p.V223I	p.V223I			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	710	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		223					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.667G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291027	0.23564	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.59906	0.23;0.23	5.35	4.44	0.53790	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124071	0.56097	D	0.000033	T	0.52901	0.1763	L	0.31752	0.955	0.58432	D	0.999998	B	0.31949	0.348	P	0.45406	0.479	T	0.48375	-0.9041	10	0.25751	T	0.34	.	10.1333	0.42691	0.0:0.8451:0.0:0.1549	.	223	P00797	RENI_HUMAN	I	223;142;223	ENSP00000356163:V223I;ENSP00000272190:V223I	ENSP00000272190:V223I	V	-	1	0	REN	202395172	0.993000	0.37304	0.821000	0.32701	0.001000	0.01503	3.078000	0.50096	1.261000	0.44149	-0.300000	0.09419	GTC		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		85	310	0	0	0	1	0	85	310					T	204128549	C	T	204128549	3	4	79	1	0	0	0	0	1	0	0	0	13274	536	19	1	577	1	REN	1	204128549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19384	204128549	45122072	1673	11990											
REN	5972	broad.mit.edu	37	chr1	204128681	204128681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagggtaaggcgggcatctCcgtgacctctccaaacatct	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128681C>T	ENST00000272190.8	-	5	563	c.535G>A	c.(535-537)Gag>Aag	p.E179K	REN_ENST00000367195.2_Missense_Mutation_p.E179K	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	179					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCGGGCATCTCCGTGACCTCT	0.572																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(535-537)Gag>Aag		renin	Aliskiren(DB01258)|Remikiren(DB00212)						129	111	117					1																	204128681		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128681C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.535G>A	1.37:g.204128681C>T	ENSP00000272190:p.Glu179Lys					REN_ENST00000272190.8_Missense_Mutation_p.E179K	p.E179K			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	578	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		179					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.535G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	2.060	-0.415519	0.04766	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.55930	0.49;0.49	5.09	3.18	0.36537	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.213206	0.47455	D	0.000227	T	0.28732	0.0712	N	0.20574	0.59	0.09310	N	1	B	0.20164	0.042	B	0.16289	0.015	T	0.21793	-1.0235	10	0.02654	T	1	.	8.9307	0.35668	0.0:0.7785:0.0:0.2215	.	179	P00797	RENI_HUMAN	K	179;98;179	ENSP00000356163:E179K;ENSP00000272190:E179K	ENSP00000272190:E179K	E	-	1	0	REN	202395304	0.215000	0.23574	0.962000	0.40283	0.393000	0.30537	1.124000	0.31320	2.380000	0.81148	0.305000	0.20034	GAG		0.572	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		6	300	0	0	0	1	0	6	300					T	204128681	C	T	204128681	3	4	79	1	0	0	0	0	1	0	0	0	13274	864	30	2	709	2	REN	1	204128681	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	204128681	45121940	1674	11991											
REN	5972	broad.mit.edu	37	chr1	204130425	204130425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttaggtctcaccacagGcagtgtagagacggctgcac	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204130425G>A	ENST00000272190.8	-	3	396	c.368C>T	c.(367-369)gCc>gTc	p.A123V	REN_ENST00000367195.2_Missense_Mutation_p.A123V	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	123					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTCACCACAGGCAGTGTAGAG	0.582																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(367-369)gCc>gTc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						87	65	72					1																	204130425		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204130425G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.368C>T	1.37:g.204130425G>A	ENSP00000272190:p.Ala123Val					REN_ENST00000272190.8_Missense_Mutation_p.A123V	p.A123V			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	411	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		123					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.368C>T	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500692	0.85176	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.61040	0.14;0.14	5.37	5.37	0.77165	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.61387	1.9	0.80722	D	1	D	0.58970	0.984	P	0.53313	0.723	T	0.72633	-0.4234	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	123	P00797	RENI_HUMAN	V	123;42;123	ENSP00000356163:A123V;ENSP00000272190:A123V	ENSP00000272190:A123V	A	-	2	0	REN	202397048	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.353000	0.97080	2.501000	0.84356	0.655000	0.94253	GCC		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		5	118	0	0	0	1	0	5	118					A	204130425	G	A	204130425	3	1	79	1	0	0	0	0	1	0	0	0	13274	1203	42	2	884	2	REN	1	204130425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1744	204130425	45120196	1675	11992											
KISS1	3814	broad.mit.edu	37	chr1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtagcagctggcttcCtctcggtgcacggcaggctc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726																																						ENST00000367194.4																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(166-168)aGg>aAg		KiSS-1 metastasis-suppressor							9	11	10					1																	204159862		1448	3383	4831	SO:0001583	missense	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204159862C>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.167G>A	1.37:g.204159862C>T	ENSP00000356162:p.Arg56Lys						p.R56K	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	3	315	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	56					A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	c.167G>A	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316310	0.10789	.	.	ENSG00000170498	ENST00000367194	T	0.79653	-1.29	4.13	-2.12	0.07165	.	1.205720	0.06169	N	0.677340	T	0.64505	0.2604	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06891	T	0.86	-0.7887	4.1234	0.10116	0.0:0.2389:0.3513:0.4098	.	56	Q15726	KISS1_HUMAN	K	56	ENSP00000356162:R56K	ENSP00000356162:R56K	R	-	2	0	KISS1	202426485	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-0.284000	0.09102	-0.165000	0.13383	AGG		0.726	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		22	79	0	0	0	1	0	22	79					T	204159862	C	T	204159862	3	4	79	1	0	0	0	0	1	0	0	0	8357	681	24	2	253	2	KISS1	1	204159862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29437	204159862	45090759	1676	11993											
GOLT1A	127845	broad.mit.edu	37	chr1	204170873	204170873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccttgagtttgtgccGttggaagaagaaccaaaagg	13	7	0	3	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	ENST00000308302.3	-	3	369	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGTTTGTGCCGTTGGAAGAAG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0					ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)Cgg>Tgg		golgi transport 1A							138	145	143					1																	204170873		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170873G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.184C>T	1.37:g.204170873G>A	ENSP00000308535:p.Arg62Trp						p.R62W	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	369	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Missense_Mutation	SNP	ENST00000308302.3	37	c.184C>T	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608368	0.46527	.	.	ENSG00000174567	ENST00000308302	T	0.47177	0.85	5.47	2.3	0.28687	.	0.000000	0.56097	D	0.000036	T	0.50394	0.1613	M	0.76938	2.355	0.45995	D	0.998804	B	0.29481	0.245	B	0.30782	0.12	T	0.52548	-0.8561	10	0.54805	T	0.06	-23.2114	14.2653	0.66113	0.0:0.0:0.3024:0.6976	.	62	Q6ZVE7	GOT1A_HUMAN	W	62	ENSP00000308535:R62W	ENSP00000308535:R62W	R	-	1	2	GOLT1A	202437496	0.520000	0.26250	0.999000	0.59377	0.938000	0.57974	0.848000	0.27710	0.153000	0.19213	0.643000	0.83706	CGG		0.572	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		112	570	0	0	0	1	0	112	570					A	204170873	G	A	204170873	3	1	79	1	0	0	0	0	1	0	0	0	6599	1144	40	1	226	1	GOLT1A	1	204170873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11011	204170873	45079748	1677	11994											
PPP1R15B	84919	broad.mit.edu	37	chr1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactagattcccagtcatcTtcctccccagaactatgctc	5	16	2	2	rs537467435	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458																																						ENST00000367188.4																			1	Substitution - Missense(1)	p.E540D(1)	kidney(1)	breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1618-1620)gaA>gaC		protein phosphatase 1, regulatory subunit 15B							58	58	58					1																	204378920		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378920T>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>C	1.37:g.204378920T>G	ENSP00000356156:p.Glu540Asp					RP11-739N20.2_ENST00000443515.1_RNA	p.E540D	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1999	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		540					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1620A>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615334	0.46631	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		75	187	0	0	0	1	0	75	187					G	204378920	T	G	204378920	3	3	79	1	0	0	0	0	1	0	0	0	12411	1606	56	4	529	4	PPP1R15B	1	204378920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208047	204378920	44871701	1678	11995											
PIK3C2B	5287	broad.mit.edu	37	chr1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgctcagctggagctccCgctgctgcaggtcacccttg	12	16	2	0	rs370165316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1586	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CTGGAGCTCCCGCTGCTGCAG	0.572																																						ENST00000367187.3																			0				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						c.(4756-4758)cGg>cAg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		C	GLN/ARG	0,4406		0,0,2203	68	57	61		4757	5.3	1	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1586/1635	204394128	1,13005	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.chr1:204394128C>T	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.4757G>A	1.37:g.204394128C>T	ENSP00000356155:p.Arg1586Gln					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q|RP11-739N20.2_ENST00000443515.1_RNA	p.R1586Q	NM_002646.3	NP_002637.3	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)		34	5313	-	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)		1586			C2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4757G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965639	0.92855	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78595	-1.19;-1.19	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.64080	1.96	0.43408	D	0.995544	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.87946	0.2720	10	0.72032	D	0.01	.	18.464	0.90749	0.0:1.0:0.0:0.0	.	1558;1586	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1586;1558	ENSP00000356155:R1586Q;ENSP00000400561:R1558Q	ENSP00000356155:R1586Q	R	-	2	0	PIK3C2B	202660751	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.775000	0.85489	2.465000	0.83290	0.655000	0.94253	CGG		0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		33	124	0	0	0	1	0	33	124					T	204394128	C	T	204394128	3	4	79	1	0	0	0	0	1	0	0	0	11952	652	23	1	151	1	PIK3C2B	1	204394128	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15208	204394128	44856493	1679	11996											
PIK3C2B	5287	broad.mit.edu	37	chr1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgtgcttgcgaatgAggttgtaggcttggcagcaa	18	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1267	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			CTTGCGAATGAGGTTGTAGGC	0.502																																						ENST00000367187.3																			0				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						c.(3799-3801)cTc>cGc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							180	163	169					1																	204402964		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.chr1:204402964A>C	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.3800T>G	1.37:g.204402964A>C	ENSP00000356155:p.Leu1267Arg					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R|RP11-739N20.2_ENST00000443515.1_RNA	p.L1267R	NM_002646.3	NP_002637.3	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)		26	4356	-	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)		1267			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3800T>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688735	0.68271	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.82081	-1.57;-1.57	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.072137	0.56097	D	0.000027	D	0.87853	0.6282	L	0.47716	1.5	0.49915	D	0.999835	B;D	0.64830	0.002;0.994	B;D	0.65573	0.017;0.936	D	0.88456	0.3052	10	0.59425	D	0.04	.	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1239;1267	F5GWN5;O00750	.;P3C2B_HUMAN	R	1267;45;1239	ENSP00000356155:L1267R;ENSP00000400561:L1239R	ENSP00000356155:L1267R	L	-	2	0	PIK3C2B	202669587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.236000	0.78154	2.246000	0.74042	0.533000	0.62120	CTC		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		166	885	0	0	0	1	0	166	885					C	204402964	A	C	204402964	3	2	79	1	0	0	0	0	1	0	0	0	11952	304	11	4	1140	4	PIK3C2B	1	204402964	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8836	204402964	44847657	1680	11997											
PIK3C2B	5287	broad.mit.edu	37	chr1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaacaaaatcatggaagCggctggaaggcttgtcaccc	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1253	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			ATCATGGAAGCGGCTGGAAGG	0.557																																						ENST00000367187.3																			0				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						c.(3757-3759)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							129	114	119					1																	204403006		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.chr1:204403006C>T	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.3758G>A	1.37:g.204403006C>T	ENSP00000356155:p.Arg1253His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H|RP11-739N20.2_ENST00000443515.1_RNA	p.R1253H	NM_002646.3	NP_002637.3	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)		26	4314	-	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)		1253			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3758G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247408	0.95305	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75704	-0.96;-0.96	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.065160	0.64402	D	0.000002	T	0.77585	0.4152	N	0.12961	0.28	0.58432	D	0.999992	P;D	0.89917	0.879;1.0	B;D	0.91635	0.334;0.999	T	0.77127	-0.2702	10	0.34782	T	0.22	.	19.8527	0.96746	0.0:1.0:0.0:0.0	.	1225;1253	F5GWN5;O00750	.;P3C2B_HUMAN	H	1253;31;1225	ENSP00000356155:R1253H;ENSP00000400561:R1225H	ENSP00000356155:R1253H	R	-	2	0	PIK3C2B	202669629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.731000	0.84895	2.783000	0.95769	0.655000	0.94253	CGC		0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		214	511	0	0	0	1	0	214	511					T	204403006	C	T	204403006	3	4	79	1	0	0	0	0	1	0	0	0	11952	768	27	1	1182	1	PIK3C2B	1	204403006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	204403006	44847615	1681	11998											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccggtggagaagcagcGgaagatgaccatgcgcatgt	16	10	0	3	rs200513505	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1118	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)			GAGAAGCAGCGGAAGATGACC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		19486	0.0		0.004	False		,,,				2504	0.0					ENST00000367187.3																			0				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						c.(3352-3354)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							123	107	112					1																	204409347		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.chr1:204409347G>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.3352C>T	1.37:g.204409347G>A	ENSP00000356155:p.Arg1118Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	p.R1118C	NM_002646.3	NP_002637.3	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)		23	3908	-	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)		1118			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3352C>T	CCDS1446.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	24.5	4.534673	0.85812	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82344	-1.6;-1.6	6.06	5.13	0.70059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.053074	0.64402	D	0.000001	D	0.87977	0.6314	M	0.84433	2.695	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.828	D	0.89881	0.4030	10	0.72032	D	0.01	.	11.8058	0.52155	0.0:0.1332:0.7284:0.1384	.	1090;1118	F5GWN5;O00750	.;P3C2B_HUMAN	C	1118;1090	ENSP00000356155:R1118C;ENSP00000400561:R1090C	ENSP00000356155:R1118C	R	-	1	0	PIK3C2B	202675970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.842000	0.48230	1.534000	0.49203	0.650000	0.86243	CGC		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		69	424	0	0	0	1	0	69	424					A	204409347	G	A	204409347	3	1	79	1	0	0	0	0	1	0	0	0	11952	1116	39	1	1600	1	PIK3C2B	1	204409347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6341	204409347	44841274	1682	11999											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409450	204409450	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgaaggtcgtccccacaCtggatggagggagaaagtga	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						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)			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)			CGTCCCCACACTGGATGGAGG	0.552																																						ENST00000367187.3																			0				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						c.e23-1		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							118	109	112					1																	204409450		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:204409450C>T	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.3250-1G>A	1.37:g.204409450C>T						PIK3C2B_ENST00000424712.2_Splice_Site		NM_002646.3	NP_002637.3	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)		23	3806	-	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)							O95666|Q5SW99	Splice_Site	SNP	ENST00000367187.3	37		CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074567	0.94000	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2B	202676073	1.000000	0.71417	0.996000	0.52242	0.525000	0.34531	7.752000	0.85141	2.655000	0.90218	0.650000	0.86243	.		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	Intron	100	317	0	0	0	1	0	100	317					T	204409450	C	T	204409450	5	4	79	1	0	0	0	0	0	0	1	0	11952	579	20	2	1703	2	PIK3C2B	1	204409450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	204409450	44841171	1683	12000											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgtctttaagcttgcGctggtcttcttcccggaggc	11	11	3	1	rs201178287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)			TTAAGCTTGCGCTGGTCTTCT	0.552													G|||	3	0.000599042	0.0	0.0014	5008	,	,		15902	0.0		0.002	False		,,,				2504	0.0					ENST00000367187.3																			0				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						c.(2449-2451)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	76	77		2449	4.2	0.8	1		77	0,8600		0,0,4300	yes	missense	PIK3C2B	NM_002646.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	817/1635	204416604	1,13005	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.chr1:204416604G>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.2449C>T	1.37:g.204416604G>A	ENSP00000356155:p.Arg817Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	p.R817C	NM_002646.3	NP_002637.3	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)		16	3005	-	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)		817					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2449C>T	CCDS1446.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.37	3.373570	0.61624	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64260	-0.09;-0.08	5.08	4.16	0.48862	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.60130	0.2245	L	0.54323	1.7	0.35802	D	0.823181	P;P	0.52463	0.953;0.62	P;B	0.47162	0.54;0.326	T	0.70029	-0.4984	10	0.59425	D	0.04	.	8.7611	0.34676	0.0:0.159:0.5768:0.2641	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	C	817	ENSP00000356155:R817C;ENSP00000400561:R817C	ENSP00000356155:R817C	R	-	1	0	PIK3C2B	202683227	0.992000	0.36948	0.838000	0.33150	0.807000	0.45602	1.313000	0.33585	1.263000	0.44181	0.462000	0.41574	CGC		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		35	334	0	0	0	1	0	35	334					A	204416604	G	A	204416604	3	1	79	1	0	0	0	0	1	0	0	0	11952	1087	38	1	2531	1	PIK3C2B	1	204416604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7154	204416604	44834017	1684	12001											
PIK3C2B	5287	broad.mit.edu	37	chr1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcaggggtttccacggCggccagggcgttgcagatgg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000496872.1_5'Flank|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	545					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)			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)			GTTTCCACGGCGGCCAGGGCG	0.632																																						ENST00000367187.3																			0				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						c.(1633-1635)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57	53	54					1																	204426936		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.chr1:204426936C>T	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.1633G>A	1.37:g.204426936C>T	ENSP00000356155:p.Ala545Thr					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	p.A545T	NM_002646.3	NP_002637.3	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	2189	-	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)		545					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1633G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222775	0.58668	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.60920	0.15;0.22	5.37	5.37	0.77165	.	0.063724	0.64402	D	0.000011	T	0.51702	0.1690	L	0.57536	1.79	0.39730	D	0.97159	B;P	0.38827	0.27;0.649	B;B	0.34093	0.09;0.175	T	0.53208	-0.8471	10	0.18710	T	0.47	.	16.8798	0.86060	0.0:1.0:0.0:0.0	.	545;545	F5GWN5;O00750	.;P3C2B_HUMAN	T	545	ENSP00000356155:A545T;ENSP00000400561:A545T	ENSP00000356155:A545T	A	-	1	0	PIK3C2B	202693559	0.999000	0.42202	0.348000	0.25681	0.689000	0.40095	4.266000	0.58871	2.509000	0.84616	0.655000	0.94253	GCC		0.632	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		37	207	0	0	0	1	0	37	207					T	204426936	C	T	204426936	3	4	79	1	0	0	0	0	1	0	0	0	11952	768	27	1	3371	1	PIK3C2B	1	204426936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10332	204426936	44823685	1685	12002											
PIK3C2B	5287	broad.mit.edu	37	chr1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcaatgtcaaacttgcGgcagtattggatgtactcat	9	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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.R451C(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)			TCAAACTTGCGGCAGTATTGG	0.562																																						ENST00000367187.3																			1	Substitution - Missense(1)	p.R451C(1)	lung(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						c.(1351-1353)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							153	120	131					1																	204429749		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.chr1:204429749G>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.1351C>T	1.37:g.204429749G>A	ENSP00000356155:p.Arg451Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	p.R451C	NM_002646.3	NP_002637.3	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)		7	1907	-	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)		451					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1351C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	PIK3C2B	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC		0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		59	263	0	0	0	1	0	59	263					A	204429749	G	A	204429749	3	1	79	1	0	0	0	0	1	0	0	0	11952	1116	39	1	3665	1	PIK3C2B	1	204429749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2813	204429749	44820872	1686	12003											
LRRN2	10446	broad.mit.edu	37	chr1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttagtgtcagcccccaccaGgttctgggccacacaggtgt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	502	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCCCACCAGGTTCTGGGCC	0.652																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1504-1506)Ctg>Atg		leucine rich repeat neuronal 2							70	69	69					1																	204587617		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587617G>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1504C>A	1.37:g.204587617G>T	ENSP00000356143:p.Leu502Met					LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M	p.L502M			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3716	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		502			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1504C>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690355	0.29962	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32120	N	0.006559	T	0.68559	0.3014	L	0.31752	0.955	0.35431	D	0.794037	D	0.89917	1.0	D	0.87578	0.998	T	0.72197	-0.4363	10	0.44086	T	0.13	.	9.3331	0.38034	0.3601:0.0:0.6399:0.0	.	502	O75325	LRRN2_HUMAN	M	502	ENSP00000356144:L502M;ENSP00000356145:L502M;ENSP00000356143:L502M	ENSP00000356143:L502M	L	-	1	2	LRRN2	202854240	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.626000	0.24492	0.615000	0.30124	0.591000	0.81541	CTG		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		76	238	1	0	5.02462e-34	1	5.96784e-34	76	238					T	204587617	G	T	204587617	3	4	79	1	0	0	0	0	1	0	0	0	9073	991	35	3	641	3	LRRN2	1	204587617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157868	204587617	44663004	1687	12004											
LRRN2	10446	broad.mit.edu	37	chr1	204587774	204587774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatctcgggttcgggttcGgccagtgcccggcaatgcag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.A449A|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCC	0.642																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1345-1347)gcC>gcT		leucine rich repeat neuronal 2							58	49	52					1																	204587774		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587774G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1347C>T	1.37:g.204587774G>A						LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000367176.3_Silent_p.A449A	p.A449A			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3559	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		449			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.1347C>T	CCDS1448.1																																																																																				0.642	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		6	273	0	0	0	1	0	6	273					A	204587774	G	A	204587774	2	1	79	1	0	0	0	0	0	0	0	1	9073	1103	39	1		1	LRRN2	1	204587774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	204587774	44662847	1688	12005											
LRRN2	10446	broad.mit.edu	37	chr1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacaatgctgttgctctGcaggagcagggtctgtgtgc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(229-231)Cag>Tag		leucine rich repeat neuronal 2							66	63	64					1																	204588892		2203	4300	6503	SO:0001587	stop_gained	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588892G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.229C>T	1.37:g.204588892G>A	ENSP00000356143:p.Gln77*					LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*	p.Q77*			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2441	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		77					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Nonsense_Mutation	SNP	ENST00000367175.1	37	c.229C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		64	354	0	0	0	1	0	64	354					A	204588892	G	A	204588892	4	1	79	1	0	0	0	0	0	1	0	0	9073	1328	46	2	1916	2	LRRN2	1	204588892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	204588892	44661729	1689	12006											
NFASC	23114	broad.mit.edu	37	chr1	204938111	204938111	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcggtgagagtaaaggGtacgttgtgtgtatttatca	13	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000401399.1	+	9	1202		c.e9+1		NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGTAAAGGGTACGTTGTGT	0.522																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.e10+1		neurofascin							63	67	66					1																	204938111		2203	4300	6503	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204938111G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1003+1G>A	1.37:g.204938111G>A						NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site				O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1331	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)							B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37		CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945740	0.92593	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203204734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.722000	0.98770	2.741000	0.93983	0.650000	0.86243	.		0.522	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	10	145	0	0	0	1	0	10	145					A	204938111	G	A	204938111	5	1	79	1	0	0	0	0	0	0	1	0	10401	1275	44	2	1089	2	NFASC	1	204938111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349219	204938111	44312510	1690	12007											
NFASC	23114	broad.mit.edu	37	chr1	204948168	204948168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcggctgacctggatccCcggggatgctaacaacagcc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948168C>T	ENST00000401399.1	+	17	2148	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	NFASC_ENST00000339876.6_Missense_Mutation_p.P650L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367172.4_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L			O94856	NFASC_HUMAN	neurofascin	650	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTGGATCCCCGGGGATGCT	0.642																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(1948-1950)cCc>cTc		neurofascin							23	22	22					1																	204948168		2171	4260	6431	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948168C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1949C>T	1.37:g.204948168C>T	ENSP00000385637:p.Pro650Leu					NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000401399.1_Missense_Mutation_p.P650L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L	p.P650L			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2277	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		650			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1949C>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810159|4.810159	0.90707|0.90707	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.61510|0.61274	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1|0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.79411|0.79411	0.4441|0.4441	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|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|.	0.999;1.0;0.997;0.995;0.999;0.999|.	T|T	0.82536|0.82536	-0.0408|-0.0408	10|8	0.87932|0.52906	D|T	0|0.07	.|.	18.583|18.583	0.91178|0.91178	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	650;661;646;635;650;646|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	L|S	650;635;650;650;650;650;661;646;646;650;629;650;646;646;637|620	ENSP00000356140:P650L;ENSP00000356139:P635L;ENSP00000356138:P650L;ENSP00000342128:P650L;ENSP00000344786:P650L;ENSP00000343509:P650L;ENSP00000438614:P646L;ENSP00000353154:P646L;ENSP00000356137:P650L;ENSP00000385676:P629L;ENSP00000385637:P650L;ENSP00000384061:P646L;ENSP00000425908:P646L;ENSP00000415031:P637L|ENSP00000356141:P620S	ENSP00000295776:P661L|ENSP00000356141:P620S	P|P	+|+	2|1	0|0	NFASC|NFASC	203214791|203214791	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.576000|0.576000	0.36127|0.36127	7.631000|7.631000	0.83237|0.83237	2.476000|2.476000	0.83614|0.83614	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.642	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	14	0	0	0	1	0	4	14					T	204948168	C	T	204948168	3	4	79	1	0	0	0	0	1	0	0	0	10401	623	22	2	2095	2	NFASC	1	204948168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10057	204948168	44302453	1691	12008											
NFASC	23114	broad.mit.edu	37	chr1	204948557	204948557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaccattccaagtacccCggcagcgttaactcagccgt	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000401399.1	+	18	2245	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367170.4_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572																																						ENST00000367172.4																			6	Substitution - coding silent(6)	p.P678P(3)|p.P682P(3)	lung(4)|endometrium(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2044-2046)ccC>ccT		neurofascin							105	103	103					1																	204948557		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948557C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2046C>T	1.37:g.204948557C>T						NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P	p.P682P			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2374	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		682			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2046C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643289	0.03531	.	.	ENSG00000163531	ENST00000367173	T	0.60040	0.22	5.43	0.461	0.16689	.	0.382752	0.22265	N	0.062346	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	7	0.87932	D	0	.	0.7637	0.01011	0.4593:0.1208:0.2102:0.2096	.	.	.	.	L	652	ENSP00000356141:P652L	ENSP00000356141:P652L	P	+	2	0	NFASC	203215180	0.000000	0.05858	0.984000	0.44739	0.013000	0.08279	-2.110000	0.01334	-0.168000	0.10853	-1.193000	0.01689	CCG		0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		140	600	0	0	0	1	0	140	600					T	204948557	C	T	204948557	2	4	79	1	0	0	0	0	0	0	0	1	10401	639	23	1		1	NFASC	1	204948557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	204948557	44302064	1692	12009											
NFASC	23114	broad.mit.edu	37	chr1	204985538	204985538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggactatggcgagggtggCgagggtcagttcaatgaaga	18	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000401399.1	+	29	3793	c.3594C>T	c.(3592-3594)ggC>ggT	p.G1198G	NFASC_ENST00000339876.6_Silent_p.G1198G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000367170.4_Silent_p.G1226G			O94856	NFASC_HUMAN	neurofascin	1305	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGAGGGTGGCGAGGGTCAGT	0.572																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3913-3915)ggC>ggT		neurofascin							200	180	186					1																	204985538		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985538C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3594C>T	1.37:g.204985538C>T						NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000401399.1_Silent_p.G1198G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000339876.6_Silent_p.G1198G	p.G1305G			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4243	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1305					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.3915C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120606	0.20877	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-2.51	0.06365	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	.	4.3579	0.11187	0.1509:0.3015:0.4082:0.1395	.	.	.	.	V	999;256	.	.	A	+	2	0	NFASC	203252161	0.000000	0.05858	0.967000	0.41034	0.968000	0.65278	-2.994000	0.00656	-0.231000	0.09825	-0.344000	0.07964	GCG		0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		68	672	0	0	0	1	0	68	672					T	204985538	C	T	204985538	2	4	79	1	0	0	0	0	0	0	0	1	10401	755	27	1		1	NFASC	1	204985538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36981	204985538	44265083	1693	12010											
CNTN2	6900	broad.mit.edu	37	chr1	205027766	205027766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggggtgatgttgccCtgtaacccacctgcccacta	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	154	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGATGTTGCCCTGTAACCCAC	0.597																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(460-462)ccC>ccA		contactin 2 (axonal)							44	44	44					1																	205027766		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027766C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.462C>A	1.37:g.205027766C>A							p.P154P	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		5	746	+	all_cancers(21;0.144)|Breast(84;0.0437)		154			Ig-like C2-type 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.462C>A	CCDS1449.1																																																																																				0.597	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		39	144	1	0	3.09479e-21	1	3.48195e-21	39	144					A	205027766	C	A	205027766	2	1	79	1	0	0	0	0	0	0	0	1	3650	668	24	3		3	CNTN2	1	205027766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42228	205027766	44222855	1694	12011											
CNTN2	6900	broad.mit.edu	37	chr1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacctcaccttcacctGgaccctggacgacttcccca	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	544	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTCACCTGGACCCTGGAC	0.582																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1630-1632)tGg>tAg		contactin 2 (axonal)							188	165	173					1																	205034326		2203	4300	6503	SO:0001587	stop_gained	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205034326G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1631G>A	1.37:g.205034326G>A	ENSP00000330633:p.Trp544*						p.W544*	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		13	1915	+	all_cancers(21;0.144)|Breast(84;0.0437)		544			Ig-like C2-type 6.		P78432|Q5T054	Nonsense_Mutation	SNP	ENST00000331830.4	37	c.1631G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	43	9.923856	0.99297	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4451	0.94843	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000330633:W544X	W	+	2	0	CNTN2	203300949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	TGG		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		203	526	0	0	0	1	0	203	526					A	205034326	G	A	205034326	4	1	79	1	0	0	0	0	0	1	0	0	3650	1357	47	2	1677	2	CNTN2	1	205034326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6560	205034326	44216295	1695	12012											
CNTN2	6900	broad.mit.edu	37	chr1	205039089	205039089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctacagcaacgagagCgtccggccctacacgccctt	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAACGAGAGCGTCCGGCCCT	0.647																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2329-2331)agC>agT		contactin 2 (axonal)							63	67	66					1																	205039089		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039089C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2331C>T	1.37:g.205039089C>T							p.S777S	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2615	+	all_cancers(21;0.144)|Breast(84;0.0437)		777			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2331C>T	CCDS1449.1																																																																																				0.647	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		187	545	0	0	0	1	0	187	545					T	205039089	C	T	205039089	2	4	79	1	0	0	0	0	0	0	0	1	3650	767	27	1		1	CNTN2	1	205039089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	205039089	44211532	1696	12013											
DSTYK	25778	broad.mit.edu	37	chr1	205156672	205156672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctgatgagcaaccagCgtgtgcactagttcatactg	10	11	1	2	rs374945965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367160.4_Silent_p.T176T|DSTYK_ENST00000367161.3_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572																																						ENST00000367162.3																			1	Substitution - coding silent(1)	p.T176T(1)	lung(1)	breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(526-528)acG>acA		dual serine/threonine and tyrosine protein kinase		C	,	0,4406		0,0,2203	88	66	74		528,528	-7.5	0.9	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	176/930,176/885	205156672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205156672C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.528G>A	1.37:g.205156672C>T						DSTYK_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_Silent_p.T176T	p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			2	558	-			176					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.528G>A	CCDS1451.1																																																																																				0.572	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		66	201	0	0	0	1	0	66	201					T	205156672	C	T	205156672	2	4	79	1	0	0	0	0	0	0	0	1	4801	755	27	1		1	DSTYK	1	205156672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117583	205156672	44093949	1697	12014											
TMCC2	9911	broad.mit.edu	37	chr1	205210944	205210944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacagcagcagtgggggCggcagcagcgggagcagcag	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(517-519)ggC>ggT		transmembrane and coiled-coil domain family 2							6	8	8					1																	205210944		2018	3993	6011	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205210944C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.519C>T	1.37:g.205210944C>T						TMCC2_ENST00000545499.1_Silent_p.G95G|TMCC2_ENST00000495538.1_3'UTR	p.G173G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	908	+	Breast(84;0.0871)		173					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.519C>T	CCDS30984.1																																																																																				0.736	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		28	88	0	0	0	1	0	28	88					T	205210944	C	T	205210944	2	4	79	1	0	0	0	0	0	0	0	1	16045	755	27	1		1	TMCC2	1	205210944	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54272	205210944	44039677	1698	12015											
TMCC2	9911	broad.mit.edu	37	chr1	205238374	205238374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagcccagaccatcgcCcagctgcacaagaagctgga	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000545499.1_Silent_p.A270A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	348						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1042-1044)gcC>gcT		transmembrane and coiled-coil domain family 2							44	37	40					1																	205238374		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205238374C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1044C>T	1.37:g.205238374C>T						TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000545499.1_Silent_p.A270A|TMCC2_ENST00000495538.1_3'UTR	p.A348A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1433	+	Breast(84;0.0871)		348					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1044C>T	CCDS30984.1																																																																																				0.597	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		73	212	0	0	0	1	0	73	212					T	205238374	C	T	205238374	2	4	79	1	0	0	0	0	0	0	0	1	16045	610	22	2		2	TMCC2	1	205238374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27430	205238374	44012247	1699	12016											
NUAK2	81788	broad.mit.edu	37	chr1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacagacacacagccccGcagtgggggctctgggagcc	14	15	1	1	rs561905076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.R569W(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16143	0.001		0.0	False		,,,				2504	0.0					ENST00000367157.3																			1	Substitution - Missense(1)	p.R569W(1)	large_intestine(1)	breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1705-1707)Cgg>Tgg		NUAK family, SNF1-like kinase, 2							26	32	30					1																	205272760		2200	4293	6493	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272760G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1705C>T	1.37:g.205272760G>A	ENSP00000356125:p.Arg569Trp						p.R569W	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1831	-	Breast(84;0.186)		569						Missense_Mutation	SNP	ENST00000367157.3	37	c.1705C>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304897	0.60305	.	.	ENSG00000163545	ENST00000367157	D	0.85773	-2.03	4.82	1.6	0.23607	.	0.000000	0.40908	D	0.000994	D	0.90549	0.7038	M	0.72894	2.215	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	D	0.89683	0.3892	10	0.87932	D	0	.	12.9973	0.58654	0.0:0.0:0.5903:0.4097	.	569	Q9H093	NUAK2_HUMAN	W	569	ENSP00000356125:R569W	ENSP00000356125:R569W	R	-	1	2	NUAK2	203539383	1.000000	0.71417	0.908000	0.35775	0.880000	0.50808	2.097000	0.41748	0.032000	0.15435	0.393000	0.25936	CGG		0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		78	330	0	0	0	1	0	78	330					A	205272760	G	A	205272760	3	1	79	1	0	0	0	0	1	0	0	0	10755	1086	38	1	185	1	NUAK2	1	205272760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34386	205272760	43977861	1700	12017											
NUAK2	81788	broad.mit.edu	37	chr1	205275355	205275355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccattgacaatctctggCgaggcatagagggggctccc	12	12	1	2	rs377400744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(649-651)tcG>tcA		NUAK family, SNF1-like kinase, 2		C		0,4406		0,0,2203	97	96	97		651	-11.5	0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK2	NM_030952.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		217/629	205275355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205275355C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.651G>A	1.37:g.205275355C>T							p.S217S	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	777	-	Breast(84;0.186)		217			Protein kinase.			Silent	SNP	ENST00000367157.3	37	c.651G>A	CCDS1453.1																																																																																				0.537	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		88	364	0	0	0	1	0	88	364					T	205275355	C	T	205275355	2	4	79	1	0	0	0	0	0	0	0	1	10755	755	27	1		1	NUAK2	1	205275355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2595	205275355	43975266	1701	12018											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgacacctcccacggCgaggaggcagttcttgacga	13	12	1	2	rs202228818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(988-990)Gcc>Acc		kelch domain containing 8A							199	180	186					1																	205306592		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306592C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.988G>A	1.37:g.205306592C>T	ENSP00000356124:p.Ala330Thr					KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T	p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		9	1804	-	Breast(84;0.23)		330					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.988G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	KLHDC8A	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		31	770	0	0	0	1	0	31	770					T	205306592	C	T	205306592	3	4	79	1	0	0	0	0	1	0	0	0	8392	768	27	1	68	1	KLHDC8A	1	205306592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31237	205306592	43944029	1702	12019											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312649	205312649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatagacctggcccccggtCtccagcagggagcagtagac	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(82-84)gaG>gaA		kelch domain containing 8A							21	24	23					1																	205312649		2202	4299	6501	SO:0001819	synonymous_variant	55220							g.chr1:205312649C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.84G>A	1.37:g.205312649C>T						KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E	p.E28E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	900	-	Breast(84;0.23)		28					B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.84G>A	CCDS30985.1																																																																																				0.672	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		58	156	0	0	0	1	0	58	156					T	205312649	C	T	205312649	2	4	79	1	0	0	0	0	0	0	0	1	8392	912	32	2		2	KLHDC8A	1	205312649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6057	205312649	43937972	1703	12020											
LEMD1	93273	broad.mit.edu	37	chr1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctctccagctctcgAtagtctggtcttccgcgcag	8	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1-AS1_ENST00000447832.1_RNA	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	144						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(430-432)aTc>aCc		LEM domain containing 1							328	280	296					1																	205350901		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205350901A>G		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"cancer/testis antigen 50"	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.431T>C	1.37:g.205350901A>G	ENSP00000356121:p.Ile144Thr					LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1-AS1_ENST00000447832.1_RNA	p.I144T	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		6	533	-	Breast(84;0.247)		144					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.431T>C	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.321|8.321	0.824374|0.824374	0.16678|0.16678	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151|ENST00000367154;ENST00000391936;ENST00000367149	T;T;T|T;T;T	0.46819|0.55930	0.86;0.89;0.86|0.86;0.86;0.49	4.52|4.52	-9.04|-9.04	0.00734|0.00734	.|.	5.603240|.	0.00397|.	N|.	0.000042|.	T|T	0.32285|0.32285	0.0824|0.0824	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.02656	0.001;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.0|0.0	T|T	0.34229|0.34229	-0.9837|-0.9837	9|8	0.59425|0.87932	D|D	0.04|0	-43.6463|-43.6463	4.6566|4.6566	0.12620|0.12620	0.5749:0.1058:0.2172:0.1021|0.5749:0.1058:0.2172:0.1021	.|.	103;144|97	Q68G75-3;Q68G75|Q68G75-5	.;LEMD1_HUMAN|.	T|P	103;144;103|97;97;56	ENSP00000356120:I103T;ENSP00000356121:I144T;ENSP00000356119:I103T|ENSP00000356122:S97P;ENSP00000375801:S97P;ENSP00000356117:S56P	ENSP00000356119:I103T|ENSP00000356117:S56P	I|S	-|-	2|1	0|0	LEMD1|LEMD1	203617524|203617524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.482000|-1.482000	0.02320|0.02320	-2.209000|-2.209000	0.00739|0.00739	-0.934000|-0.934000	0.02701|0.02701	ATC|TCG		0.478	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		86	956	0	0	0	1	0	86	956					G	205350901	A	G	205350901	3	3	79	1	0	0	0	0	1	0	0	0	8750	333	12	4	41	4	LEMD1	1	205350901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38252	205350901	43899720	1704	12021											
CDK18	5129	broad.mit.edu	37	chr1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaatccttggctgaattCacggagcaattcaaccagct	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	28							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(88-90)ttC>ttA		cyclin-dependent kinase 18							68	72	71					1																	205492385		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492385C>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.90C>A	1.37:g.205492385C>A	ENSP00000353176:p.Phe30Leu					CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L	p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			2	391	+			28					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.90C>A	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592578	0.28357	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70516	-0.29;-0.49;-0.29;1.97;1.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16307	0.4	0.54753	D	0.999988	B;B	0.13145	0.006;0.007	B;B	0.15870	0.014;0.013	T	0.48917	-0.8992	10	0.06625	T	0.88	-39.0784	15.664	0.77213	0.0:1.0:0.0:0.0	.	30;30	Q07002-3;Q07002-2	.;.	L	30	ENSP00000399082:F30L;ENSP00000423665:F30L;ENSP00000353176:F30L;ENSP00000397831:F30L;ENSP00000391324:F30L	ENSP00000353176:F30L	F	+	3	2	CDK18	203759008	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	2.510000	0.45468	2.728000	0.93425	0.655000	0.94253	TTC		0.552	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		139	338	1	0	1.44621e-61	1	1.82128e-61	139	338					A	205492385	C	A	205492385	3	1	79	1	0	0	0	0	1	0	0	0	3143	825	29	3	92	3	CDK18	1	205492385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141484	205492385	43758236	1705	12022											
MFSD4	148808	broad.mit.edu	37	chr1	205553121	205553121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgatgctgctgtccaaGgagcggctgctgacctgctg	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205553121G>T	ENST00000367147.4	+	4	822	c.729G>T	c.(727-729)aaG>aaT	p.K243N	MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N|MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGTCCAAGGAGCGGCTGC	0.637																																						ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(727-729)aaG>aaT		major facilitator superfamily domain containing 4							62	60	61					1																	205553121		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205553121G>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.729G>T	1.37:g.205553121G>T	ENSP00000356115:p.Lys243Asn					MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N|MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N	p.K243N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		4	822	+	Breast(84;0.07)		243					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.729G>T	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659883	0.47572	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80653	1.68;1.69;-1.4	5.57	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);	0.046302	0.85682	D	0.000000	D	0.85133	0.5627	L	0.58101	1.795	0.46774	D	0.999195	D;B;D	0.89917	1.0;0.07;0.97	D;B;P	0.87578	0.998;0.023;0.725	T	0.82382	-0.0485	10	0.29301	T	0.29	-11.9022	8.5804	0.33626	0.1292:0.0:0.8708:0.0	.	188;156;243	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	243;243;156	ENSP00000356115:K243N;ENSP00000445329:K243N;ENSP00000440183:K156N	ENSP00000356115:K243N	K	+	3	2	MFSD4	203819744	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.507000	0.45442	1.199000	0.43173	0.561000	0.74099	AAG		0.637	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		8	442	1	0	0.27861	1	0.278732	8	442					T	205553121	G	T	205553121	3	4	79	1	0	0	0	0	1	0	0	0	9574	991	35	3	743	3	MFSD4	1	205553121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60736	205553121	43697500	1706	12023											
SLC45A3	85414	broad.mit.edu	37	chr1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagctccaggcttagggCctggcaggaagctggtcatc	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	434					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3				Dom	yes		1	1q32	85414	T	"solute carrier family 45, member 3"			E	"ETV1, ETV5, ELK4, ERG"		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1300-1302)gGc>gAc		solute carrier family 45, member 3							58	54	55					1																	205628723		2203	4300	6503	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205628723C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1301G>A	1.37:g.205628723C>T	ENSP00000356113:p.Gly434Asp		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.G434D	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1596	-	Breast(84;0.07)		434					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.1301G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616403	0.46736	.	.	ENSG00000158715	ENST00000367145	T	0.43688	0.94	5.16	4.18	0.49190	.	0.216749	0.39020	N	0.001486	T	0.29524	0.0736	L	0.36672	1.1	0.40475	D	0.980389	B	0.10296	0.003	B	0.08055	0.003	T	0.13656	-1.0501	10	0.37606	T	0.19	-23.9536	7.154	0.25626	0.1717:0.7401:0.0:0.0882	.	434	Q96JT2	S45A3_HUMAN	D	434	ENSP00000356113:G434D	ENSP00000356113:G434D	G	-	2	0	SLC45A3	203895346	0.395000	0.25254	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.401000	0.81631	0.491000	0.48974	GGC		0.622	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		43	173	0	0	0	1	0	43	173					T	205628723	C	T	205628723	3	4	79	1	0	0	0	0	1	0	0	0	14692	739	26	2	364	2	SLC45A3	1	205628723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75602	205628723	43621898	1707	12024											
RAB7L1	8934	broad.mit.edu	37	chr1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatatcttctgtggaatTtctcatcatcttttcaatga	5	8	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		176					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(526-528)Aat>Cat		RAB7, member RAS oncogene family-like 1							101	96	98					1																	205739556		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205739556T>G																												ENST00000367139.3:c.526A>C	1.37:g.205739556T>G	ENSP00000356107:p.Asn176His					RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	p.N176H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		6	829	-	Breast(84;0.0799)		176					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.526A>C	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280869	0.40394	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80123	-1.34;-1.34;-0.66;-1.34;-1.34	5.39	4.23	0.50019	.	0.310723	0.34959	N	0.003548	T	0.67961	0.2949	L	0.49256	1.55	0.30130	N	0.804901	P;B	0.46277	0.875;0.008	B;B	0.31751	0.135;0.01	T	0.68800	-0.5313	10	0.48119	T	0.1	-10.795	7.2088	0.25921	0.1446:0.0:0.1509:0.7045	.	152;176	B4E1K3;O14966	.;RAB7L_HUMAN	H	176;176;104;152;176	ENSP00000356107:N176H;ENSP00000235932:N176H;ENSP00000416613:N104H;ENSP00000389899:N152H;ENSP00000402910:N176H	ENSP00000235932:N176H	N	-	1	0	RAB7L1	204006179	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	2.339000	0.43965	0.931000	0.37242	0.533000	0.62120	AAT		0.408	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			34	247	0	0	0	1	0	34	247					G	205739556	T	G	205739556	3	3	79	1	0	0	0	0	1	0	0	0	13005	1841	64	4	89	4	RAB7L1	1	205739556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110833	205739556	43511065	1708	12025											
SLC41A1	254428	broad.mit.edu	37	chr1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggaaacagtacttgcaGcccgatggaaaaggaggtct	13	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	100					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(298-300)Ctg>Atg		solute carrier family 41 (magnesium transporter), member 1							137	126	130					1																	205779272		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779272G>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.298C>A	1.37:g.205779272G>T	ENSP00000356105:p.Leu100Met						p.L100M	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1312	-	Breast(84;0.0799)		100					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.298C>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003766	0.74932	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.56769	1.78	0.58432	D	0.999997	D	0.61697	0.99	P	0.61800	0.894	T	0.43988	-0.9357	10	0.44086	T	0.13	-7.8851	14.6033	0.68456	0.0714:0.0:0.9286:0.0	.	100	Q8IVJ1	S41A1_HUMAN	M	100	ENSP00000356105:L100M	ENSP00000356105:L100M	L	-	1	2	SLC41A1	204045895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.473000	0.66774	1.379000	0.46325	0.555000	0.69702	CTG		0.602	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			133	414	1	0	2.77834e-61	1	3.49734e-61	133	414					T	205779272	G	T	205779272	3	4	79	1	0	0	0	0	1	0	0	0	14679	962	34	3	1283	3	SLC41A1	1	205779272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39716	205779272	43471349	1709	12026											
SLC41A1	254428	broad.mit.edu	37	chr1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttggtggacgtccttcGgctctggcttagaggacatg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(19-21)cCg>cTg		solute carrier family 41 (magnesium transporter), member 1							78	85	83					1																	205779550		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779550G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.20C>T	1.37:g.205779550G>A	ENSP00000356105:p.Pro7Leu		OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154		p.P7L	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1034	-	Breast(84;0.0799)		7					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.20C>T	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181026	0.38511	.	.	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.64	3.78	0.43462	.	0.360313	0.28665	N	0.014554	T	0.21921	0.0528	L	0.39898	1.24	0.34108	D	0.662706	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.39692	T	0.17	-8.2833	5.6147	0.17423	0.1614:0.0:0.645:0.1936	.	7	Q8IVJ1	S41A1_HUMAN	L	7	ENSP00000356105:P7L	ENSP00000356105:P7L	P	-	2	0	SLC41A1	204046173	0.930000	0.31532	0.805000	0.32314	0.851000	0.48451	1.331000	0.33793	0.751000	0.32900	-0.266000	0.10368	CCG		0.552	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			121	437	0	0	0	1	0	121	437					A	205779550	G	A	205779550	3	1	79	1	0	0	0	0	1	0	0	0	14679	1116	39	1	1561	1	SLC41A1	1	205779550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	205779550	43471071	1710	12027											
AVPR1B	553	broad.mit.edu	37	chr1	206225109	206225109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctacagcctcatctgCcatgagatctgtaaaaacct	7	13	3	1	rs537657375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	223					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16213	0.0		0.0	False		,,,				2504	0.0					ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(667-669)tgC>tgT		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						51	53	52					1																	206225109		2203	4299	6502	SO:0001819	synonymous_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225109C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.669C>T	1.37:g.206225109C>T							p.C223C	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1134	+			223					B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	c.669C>T	CCDS30994.1																																																																																				0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		98	421	0	0	0	1	0	98	421					T	206225109	C	T	206225109	2	4	79	1	0	0	0	0	0	0	0	1	1233	747	26	2		2	AVPR1B	1	206225109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445559	206225109	43025512	1711	12028											
CTSE	1510	broad.mit.edu	37	chr1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccaacctctgggtcccctCtgtgtactgcactagcccag	8	17	2	0	rs377729989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000358184.2	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y|CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	106					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(316-318)tCt>tAt		cathepsin E							94	83	87					1																	206319192		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206319192C>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.317C>A	1.37:g.206319192C>A	ENSP00000350911:p.Ser106Tyr					CTSE_ENST00000358184.2_Missense_Mutation_p.S106Y|CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y	p.S106Y			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		3	435	+			106					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.317C>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289747	0.80914	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.62788	-0.0;-0.0;0.06;0.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85062	0.5611	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.993	D	0.89303	0.3627	10	0.87932	D	0	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	31;106;106	B4DNU8;P14091-2;P14091-1	.;.;.	Y	106;106;106;31	ENSP00000350911:S106Y;ENSP00000354337:S106Y;ENSP00000353350:S106Y;ENSP00000394607:S31Y	ENSP00000350911:S106Y	S	+	2	0	CTSE	204485815	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.051000	0.76627	2.655000	0.90218	0.655000	0.94253	TCT		0.582	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		107	251	1	0	6.72522e-28	1	7.80435e-28	107	251					A	206319192	C	A	206319192	3	1	79	1	0	0	0	0	1	0	0	0	4044	913	32	3	327	3	CTSE	1	206319192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94083	206319192	42931429	1712	12029											
CTSE	1510	broad.mit.edu	37	chr1	206331211	206331211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgtgtctgtgcctgcCtgtctgacagaccttgaata	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTGCCTGCCTGTCTGACAG	0.483																																						ENST00000360218.2																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(1075-1077)Ctg>Ttg		cathepsin E							107	112	111					1																	206331211		2203	4300	6503	SO:0001819	synonymous_variant	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331211C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.1075C>T	1.37:g.206331211C>T						CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L	p.L359L	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		8	1179	+			0					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000360218.2	37	c.1075C>T	CCDS1461.1																																																																																				0.483	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	NM_001910		12	443	0	0	0	1	0	12	443					T	206331211	C	T	206331211	2	4	79	1	0	0	0	0	0	0	0	1	4044	680	24	2		2	CTSE	1	206331211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12019	206331211	42919410	1713	12030											
SRGAP2	23380	broad.mit.edu	37	chr1	206632020	206632020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaacttttcggagtgaCagccatgggctgagcagttc	13	9	0	2	rs533088717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	853					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597																																						ENST00000419187.2																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(511-513)gaC>gaT		SLIT-ROBO Rho GTPase activating protein 2							27	29	28					1																	206632020		1980	4165	6145	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206632020C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2139C>T	1.37:g.206632020C>T						SRGAP2_ENST00000414007.1_Silent_p.D713D	p.171_171insD			O75044	FNBP2_HUMAN			19	2176	+	Breast(84;0.137)		0						Missense_Mutation	SNP	ENST00000414007.1	37	c.513C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.12|10.12	1.264395|1.264395	0.23136|0.23136	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	6.06|6.06	0.66|0.66	0.17868|0.17868	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31451	.|0.0797	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35798	.|-0.9774	.|3	.|.	.|.	.|.	.|.	4.5869|4.5869	0.12287|0.12287	0.1155:0.5353:0.2235:0.1256|0.1155:0.5353:0.2235:0.1256	.|.	.|.	.|.	.|.	X|I	767|149	.|.	.|.	Q|T	+|+	1|2	0|0	SRGAP2|SRGAP2	204698643|204698643	0.988000|0.988000	0.35896|0.35896	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.577000|0.577000	0.23758|0.23758	0.130000|0.130000	0.18549|0.18549	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.597	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		17	73	0	0	0	1	0	17	73					T	206632020	C	T	206632020	2	4	79	1	0	0	0	0	0	0	0	1	15198	477	17	2		2	SRGAP2	1	206632020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300809	206632020	42618601	1714	12031											
IKBKE	9641	broad.mit.edu	37	chr1	206647703	206647703	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagctggttgctgtgaaggtCttcaacactaccagctacct	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGAAGGTCTTCAACACTA	0.582																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(115-117)gtC>gtA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							82	68	73					1																	206647703		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206647703C>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.117C>A	1.37:g.206647703C>A						IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_5'UTR	p.V39V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			4	490	+	Breast(84;0.137)		39			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.117C>A	CCDS30996.1																																																																																				0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			60	284	1	0	5.5144e-22	1	6.22847e-22	60	284					A	206647703	C	A	206647703	2	1	79	1	0	0	0	0	0	0	0	1	7642	900	32	3		3	IKBKE	1	206647703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15683	206647703	42602918	1715	12032											
IKBKE	9641	broad.mit.edu	37	chr1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctgtttcctccagggCttggctacaacgaggagcag	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	566	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCCTCCAGGGCTTGGCTACAA	0.542											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1696-1698)Ctt>Ttt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							129	112	118					1																	206664154		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206664154C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1696C>T	1.37:g.206664154C>T	ENSP00000356087:p.Leu566Phe		OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	p.L566F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			17	2069	+	Breast(84;0.137)		566					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1696C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160932	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.22945	1.93;1.93	5.61	4.6	0.57074	.	0.114512	0.39544	N	0.001329	T	0.42810	0.1219	M	0.64997	1.995	0.37720	D	0.92488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.47459	-0.9116	10	0.72032	D	0.01	-0.7411	6.4145	0.21710	0.0:0.8484:0.0:0.1515	.	481;566	Q3B754;Q14164	.;IKKE_HUMAN	F	566;481	ENSP00000356087:L566F;ENSP00000444529:L481F	ENSP00000356087:L566F	L	+	1	0	IKBKE	204730777	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.776000	0.38594	2.656000	0.90262	0.655000	0.94253	CTT		0.542	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			48	332	0	0	0	1	0	48	332					T	206664154	C	T	206664154	3	4	79	1	0	0	0	0	1	0	0	0	7642	797	28	2	1754	2	IKBKE	1	206664154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16451	206664154	42586467	1716	12033											
RASSF5	83593	broad.mit.edu	37	chr1	206730965	206730965	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaactggaagactgcTtcttcactgctaagactacc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206730965T>C	ENST00000355294.4	+	2	636				RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000304534.8_Missense_Mutation_p.F22L	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGAAGACTGCTTCTTCACTGC	0.527																																					GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(64-66)Ttc>Ctc		Ras association (RalGDS/AF-6) domain family member 5							103	96	99					1																	206730965		2203	4300	6503	SO:0001627	intron_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206730965T>C	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.579+19343T>C	1.37:g.206730965T>C						RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000338603.2_Intron|RASSF5_ENST00000355294.4_Intron	p.F22L	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	473	+	Breast(84;0.183)		0					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.64T>C	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249772	0.95305	.	.	ENSG00000136653	ENST00000304534	T	0.15718	2.4	5.25	5.25	0.73442	.	.	.	.	.	T	0.36717	0.0977	L	0.60455	1.87	0.39485	D	0.967942	D	0.67145	0.996	D	0.70935	0.971	T	0.20874	-1.0262	9	0.72032	D	0.01	.	13.1024	0.59228	0.0:0.0:0.0:1.0	.	22	Q8WWW0-2	.	L	22	ENSP00000306091:F22L	ENSP00000306091:F22L	F	+	1	0	RASSF5	204797588	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.559000	0.73946	1.972000	0.57404	0.533000	0.62120	TTC		0.527	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		19	379	0	0	0	1	0	19	379					C	206730965	T	C	206730965	1	2	79	0	1	0	0	0	0	0	0	0	13139	1609	56	4		4	RASSF5	1	206730965	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66811	206730965	42519656	1717	12034											
LGTN	1939	broad.mit.edu	37	chr1	206773132	206773132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatgctctccacccctttgCtcagctccttcacctgtata	4	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206773132C>A	ENST00000271764.2	-	9	1215	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.S212I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	336					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CACCCCTTTGCTCAGCTCCTT	0.582																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1006-1008)aGc>aTc		eukaryotic translation initiation factor 2D							152	127	136					1																	206773132		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206773132C>A	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1007G>T	1.37:g.206773132C>A	ENSP00000271764:p.Ser336Ile					EIF2D_ENST00000367114.3_Missense_Mutation_p.S212I	p.S336I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			9	1215	-			336					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.1007G>T	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572557	0.45798	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.47869	0.83;0.9	5.75	4.85	0.62838	.	0.206543	0.64402	D	0.000017	T	0.55097	0.1899	M	0.67397	2.05	0.46061	D	0.998846	P;P	0.45715	0.741;0.865	B;P	0.50617	0.372;0.646	T	0.58399	-0.7643	10	0.62326	D	0.03	-4.8102	9.6372	0.39817	0.0:0.8415:0.0:0.1585	.	212;336	P41214-2;P41214	.;EIF2D_HUMAN	I	212;336	ENSP00000356081:S212I;ENSP00000271764:S336I	ENSP00000271764:S336I	S	-	2	0	EIF2D	204839755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	1.437000	0.47472	0.563000	0.77884	AGC		0.582	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		102	456	1	0	1.79411e-48	1	2.21456e-48	102	456					A	206773132	C	A	206773132	3	1	79	1	0	0	0	0	1	0	0	0	8792	797	28	3	775	3	LGTN	1	206773132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42167	206773132	42477489	1718	12035											
DYRK3	8444	broad.mit.edu	37	chr1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaataagattattcactgcGatctgaagccagaaaacatt	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367109.2	+	3	1171	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D315N	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(943-945)Gat>Aat		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							90	95	93					1																	206821546		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821546G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1003G>A	1.37:g.206821546G>A	ENSP00000356076:p.Asp335Asn					DYRK3_ENST00000367109.2_Missense_Mutation_p.D335N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N|DYRK3_ENST00000489878.1_Intron	p.D315N			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1416	+	Breast(84;0.183)		335			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.943G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486637	0.84854	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.92965	-3.14;-3.14;-3.14	5.17	5.17	0.71159	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	0.97480	0.9175	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98503	1.0615	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	335;315	O43781;O43781-2	DYRK3_HUMAN;.	N	335;315;315	ENSP00000356076:D335N;ENSP00000356075:D315N;ENSP00000356073:D315N	ENSP00000356073:D315N	D	+	1	0	DYRK3	204888169	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAT		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		89	523	0	0	0	1	0	89	523					A	206821546	G	A	206821546	3	1	79	1	0	0	0	0	1	0	0	0	4873	1058	37	1	1034	1	DYRK3	1	206821546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48414	206821546	42429075	1719	12036											
FAIM3	9214	broad.mit.edu	37	chr1	207087198	207087198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgtcactttctgtcagCtgtgttacctccactaggaa	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	ENST00000367091.3	-	2	422	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	93	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTCTGTCAGCTGTGTTACCT	0.527																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(277-279)caG>caT		Fas apoptotic inhibitory molecule 3							126	119	121					1																	207087198		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087198C>A	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.279G>T	1.37:g.207087198C>A	ENSP00000356058:p.Gln93His					FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H	p.Q93H	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	422	-	Breast(84;0.201)		93			Ig-like.		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.279G>T	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558618	0.13436	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.28	-0.098	0.13630	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.381571	0.22609	N	0.057854	T	0.16171	0.0389	L	0.39326	1.205	0.09310	N	1	P	0.46142	0.873	P	0.45474	0.482	T	0.09997	-1.0649	10	0.51188	T	0.08	-5.8428	3.8053	0.08774	0.284:0.4736:0.0:0.2424	.	93	O60667	FAIM3_HUMAN	H	93;93;93;93;124	ENSP00000356058:Q93H;ENSP00000403356:Q93H;ENSP00000432936:Q93H;ENSP00000437331:Q93H;ENSP00000436316:Q124H	ENSP00000356058:Q93H	Q	-	3	2	FAIM3	205153821	0.008000	0.16893	0.002000	0.10522	0.076000	0.17211	-0.202000	0.09451	-0.009000	0.14296	-1.858000	0.00562	CAG		0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		21	557	1	0	2.4624e-09	1	2.59004e-09	21	557					A	207087198	C	A	207087198	3	1	79	1	0	0	0	0	1	0	0	0	5398	796	28	3	921	3	FAIM3	1	207087198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265652	207087198	42163423	1720	12037											
FAIM3	9214	broad.mit.edu	37	chr1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaactgatccgcccaGctccccctctacctttactt	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	29					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(85-87)Ctg>Atg		Fas apoptotic inhibitory molecule 3							116	102	107					1																	207087392		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087392G>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.85C>A	1.37:g.207087392G>T	ENSP00000356058:p.Leu29Met					FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M	p.L29M	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	228	-	Breast(84;0.201)		29					A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.85C>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900391	0.17686	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.28	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.370929	0.19644	N	0.109386	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.27400	-1.0075	10	0.33141	T	0.24	-5.8687	3.0783	0.06254	0.0978:0.1775:0.5413:0.1834	.	29	O60667	FAIM3_HUMAN	M	29;29;29;29;60	ENSP00000356058:L29M;ENSP00000403356:L29M;ENSP00000432936:L29M;ENSP00000437331:L29M;ENSP00000436316:L60M	ENSP00000356058:L29M	L	-	1	2	FAIM3	205154015	0.133000	0.22466	0.124000	0.21820	0.021000	0.10359	0.731000	0.26058	0.604000	0.29930	-0.122000	0.15005	CTG		0.537	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		174	426	1	0	8.57523e-64	1	1.0829e-63	174	426					T	207087392	G	T	207087392	3	4	79	1	0	0	0	0	1	0	0	0	5398	962	34	3	1115	3	FAIM3	1	207087392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	207087392	42163229	1721	12038											
FCAMR	83953	broad.mit.edu	37	chr1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagagagtcatcctggaGcatctttctttccacatggg	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	512					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1669-1671)Ctc>Ttc		Fc receptor, IgA, IgM, high affinity							107	98	101					1																	207131926		692	1591	2283	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207131926G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1669C>T	1.37:g.207131926G>A	ENSP00000316491:p.Leu557Phe					FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000450945.2_3'UTR	p.L557F	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			8	2143	-			512					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1669C>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349753	0.41599	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07327	3.2	4.73	-1.11	0.09840	.	0.717863	0.11432	N	0.564723	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	0.999999	P;B	0.36010	0.532;0.21	B;B	0.32342	0.144;0.088	T	0.33650	-0.9860	10	0.54805	T	0.06	-3.8209	1.4804	0.02435	0.1754:0.1378:0.4057:0.2811	.	532;512	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	557;515	ENSP00000316491:L557F	ENSP00000316491:L557F	L	-	1	0	FCAMR	205198549	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.637000	0.02015	-0.069000	0.12931	-0.314000	0.08810	CTC		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		107	368	0	0	0	1	0	107	368					A	207131926	G	A	207131926	3	1	79	1	0	0	0	0	1	0	0	0	5797	971	34	2	68	2	FCAMR	1	207131926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44534	207131926	42118695	1722	12039											
C1orf116	79098	broad.mit.edu	37	chr1	207195513	207195513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctttccccgtgcccagGgaggccgggcggggccgaga	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000359470.5	-	4	1845	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_ENST00000461135.2_Silent_p.S286S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	532						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCGTGCCCAGGGAGGCCGGGC	0.592																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1594-1596)tcC>tcT		chromosome 1 open reading frame 116							29	32	31					1																	207195513		2203	4300	6503	SO:0001819	synonymous_variant	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195513G>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1596C>T	1.37:g.207195513G>A						C1orf116_ENST00000461135.2_Silent_p.S286S	p.S532S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1845	-	Prostate(682;0.19)		532					C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	37	c.1596C>T	CCDS1475.1																																																																																				0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		51	133	0	0	0	1	0	51	133					A	207195513	G	A	207195513	2	1	79	1	0	0	0	0	0	0	0	1	1996	1219	43	2		2	C1orf116	1	207195513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63587	207195513	42055108	1723	12040											
C1orf116	79098	broad.mit.edu	37	chr1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgggttgggttatggGcagtgctcggaaacctctgg	19	6	1	0	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000359470.5	-	3	508	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	87			P -> S (in dbSNP:rs706846).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGGTTATGGGCAGTGCTCGG	0.592																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(259-261)Ccc>Tcc		chromosome 1 open reading frame 116							93	99	97					1																	207198256		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207198256G>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.259C>T	1.37:g.207198256G>A	ENSP00000352447:p.Pro87Ser					C1orf116_ENST00000461135.2_5'UTR	p.P87S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			3	508	-	Prostate(682;0.19)		87		P -> S (in dbSNP:rs706846).			C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.259C>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798076	0.50208	.	.	ENSG00000182795	ENST00000359470	T	0.19532	2.14	4.39	3.44	0.39384	.	0.353687	0.27495	N	0.019120	T	0.31451	0.0797	M	0.63843	1.955	0.38128	D	0.938075	D	0.53462	0.96	P	0.52217	0.693	T	0.17018	-1.0383	10	0.32370	T	0.25	-11.1548	12.6221	0.56610	0.0:0.0:0.8266:0.1734	rs706846;rs1770381;rs706846	87	Q9BW04	SARG_HUMAN	S	87	ENSP00000352447:P87S	ENSP00000352447:P87S	P	-	1	0	C1orf116	205264879	0.809000	0.29036	0.008000	0.14137	0.038000	0.13279	2.613000	0.46351	1.084000	0.41184	0.655000	0.94253	CCC		0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		103	328	0	0	0	1	0	103	328					A	207198256	G	A	207198256	3	1	79	1	0	0	0	0	1	0	0	0	1996	1203	42	2	1554	2	C1orf116	1	207198256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2743	207198256	42052365	1724	12041											
YOD1	55432	broad.mit.edu	37	chr1	207222956	207222956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtctgctgggaccacGgttctggtaagcacaggcaa	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000315927.4	-	2	502	c.456C>T	c.(454-456)acC>acT	p.T152T	YOD1_ENST00000367084.1_Silent_p.T108T|YOD1_ENST00000391927.1_Silent_p.T108T|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	152	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(322-324)acC>acT		YOD1 deubiquitinase							72	64	67					1																	207222956		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222956G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.456C>T	1.37:g.207222956G>A						PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000315927.4_Silent_p.T152T|YOD1_ENST00000391927.1_Silent_p.T108T	p.T108T	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	528	-	Prostate(682;0.19)		152			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.324C>T	CCDS31002.1																																																																																				0.493	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		61	188	0	0	0	1	0	61	188					A	207222956	G	A	207222956	2	1	79	1	0	0	0	0	0	0	0	1	17542	1103	39	1		1	YOD1	1	207222956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24700	207222956	42027665	1725	12042											
PFKFB2	5208	broad.mit.edu	37	chr1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgactatcctgaaaggaacaGagagaacgtgatggaggact	13	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	183	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAAGGAACAGAGAGAACGTG	0.463																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(547-549)aGa>aTa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							120	107	111					1																	207238421		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207238421G>T		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.548G>T	1.37:g.207238421G>T	ENSP00000356047:p.Arg183Ile					PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I	p.R183I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			8	672	+	Prostate(682;0.19)		183			6-phosphofructo-2-kinase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.548G>T	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267827	0.80469	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.86	5.86	0.93980	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39576	0.002;0.679;0.005	B;B;B	0.40256	0.005;0.324;0.005	T	0.71899	-0.4453	9	0.56958	D	0.05	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	85;183;183	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	I	85;183;183;150	.	ENSP00000356046:R183I	R	+	2	0	PFKFB2	205305044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.160000	0.58164	2.777000	0.95525	0.591000	0.81541	AGA		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			56	255	1	0	1.54886e-18	1	1.72018e-18	56	255					T	207238421	G	T	207238421	3	4	79	1	0	0	0	0	1	0	0	0	11803	942	33	3	574	3	PFKFB2	1	207238421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15465	207238421	42012200	1726	12043											
CD55	1604	broad.mit.edu	37	chr1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcggtactgttgtggaatAtgagtgccgtccaggttaca	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000367064.3	+	3	638	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(379-381)tAt>tGt		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						110	107	108					1																	207497997		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207497997A>G	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.380A>G	1.37:g.207497997A>G	ENSP00000356031:p.Tyr127Cys					CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron	p.Y127C	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			3	638	+			127			Sushi 2.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.380A>G	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158731|2.158731	0.38119|0.38119	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.16|6.16	5.02|5.02	0.67125|0.67125	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.151856	.|0.45867	.|D	.|0.000328	D|D	0.87822|0.87822	0.6274|0.6274	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|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;0.999;1.0	D|D	0.89768|0.89768	0.3952|0.3952	5|10	.|0.87932	.|D	.|0	.|.	11.262|11.262	0.49089|0.49089	0.8634:0.0:0.0:0.1366|0.8634:0.0:0.0:0.1366	.|.	.|127;127;127;127	.|Q14UF4;P08174-2;P08174;B1AP13	.|.;.;DAF_HUMAN;.	V|C	137|127	.|ENSP00000356031:Y127C;ENSP00000356030:Y127C;ENSP00000316333:Y127C;ENSP00000356032:Y127C;ENSP00000375787:Y127C;ENSP00000356029:Y127C	.|ENSP00000316333:Y127C	M|Y	+|+	1|2	0|0	CD55|CD55	205564620|205564620	0.982000|0.982000	0.34865|0.34865	0.678000|0.678000	0.29963|0.29963	0.017000|0.017000	0.09413|0.09413	2.438000|2.438000	0.44837|0.44837	1.114000|1.114000	0.41781|0.41781	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.413	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		93	355	0	0	0	1	0	93	355					G	207497997	A	G	207497997	3	3	79	1	0	0	0	0	1	0	0	0	3033	449	16	4	390	4	CD55	1	207497997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	259576	207497997	41752624	1727	12044											
CR2	1380	broad.mit.edu	37	chr1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccatcacctccccctattCtcaatggaagacatataggc	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367058.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000367057.3_Missense_Mutation_p.L283F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	283	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCCTATTCTCAATGGAAG	0.428																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(847-849)Ctc>Ttc		complement component (3d/Epstein Barr virus) receptor 2							92	88	89					1																	207643069		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643069C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.847C>T	1.37:g.207643069C>T	ENSP00000356025:p.Leu283Phe					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367058.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F	p.L283F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1036	+			283			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.847C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287663	0.23478	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.05	1.86	0.25419	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71995	0.3406	M	0.65975	2.015	0.09310	N	1	D;D;D	0.63046	0.992;0.98;0.991	P;D;P	0.64410	0.905;0.925;0.894	T	0.58358	-0.7650	9	0.54805	T	0.06	.	8.1256	0.30997	0.1649:0.4727:0.3624:0.0	.	283;283;283	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	283	ENSP00000356025:L283F;ENSP00000356024:L283F;ENSP00000356026:L283F;ENSP00000404222:L283F	ENSP00000356024:L283F	L	+	1	0	CR2	205709692	0.022000	0.18835	0.413000	0.26509	0.370000	0.29829	-0.007000	0.12810	0.780000	0.33566	-0.321000	0.08615	CTC		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		75	404	0	0	0	1	0	75	404					T	207643069	C	T	207643069	3	4	79	1	0	0	0	0	1	0	0	0	3851	913	32	2	869	2	CR2	1	207643069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145072	207643069	41607552	1728	12045											
CR2	1380	broad.mit.edu	37	chr1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtttggcttcaccttgaAgggcagcaagcaaatccgat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367058.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R|CR2_ENST00000367057.3_Missense_Mutation_p.K386R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	386	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCACCTTGAAGGGCAGCAAG	0.493																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1156-1158)aAg>aGg		complement component (3d/Epstein Barr virus) receptor 2							101	90	93					1																	207643379		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643379A>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1157A>G	1.37:g.207643379A>G	ENSP00000356025:p.Lys386Arg					CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367058.3_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R	p.K386R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1346	+			386			Sushi 6.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1157A>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051888	0.55218	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	L	0.33339	1.005	0.44359	D	0.997251	P;P;B	0.45634	0.863;0.522;0.296	P;B;B	0.45712	0.491;0.38;0.259	T	0.45775	-0.9238	9	0.11794	T	0.64	.	11.8312	0.52297	1.0:0.0:0.0:0.0	.	386;386;386	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	386	ENSP00000356025:K386R;ENSP00000356024:K386R;ENSP00000356026:K386R;ENSP00000404222:K386R	ENSP00000356024:K386R	K	+	2	0	CR2	205710002	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	1.476000	0.35420	2.225000	0.72522	0.459000	0.35465	AAG		0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		80	239	0	0	0	1	0	80	239					G	207643379	A	G	207643379	3	3	79	1	0	0	0	0	1	0	0	0	3851	72	3	4	1179	4	CR2	1	207643379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	310	207643379	41607242	1729	12046											
CR2	1380	broad.mit.edu	37	chr1	207648341	207648341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggacatggatcttggagCgggccttccccacagtgctt	12	11	1	0	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367058.3	+	13	2508	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367059.3_Silent_p.S773S|CR2_ENST00000367057.3_Silent_p.S832S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	773	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.S832S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCTTGGAGCGGGCCTTCCC	0.443																																						ENST00000367057.3																			1	Substitution - coding silent(1)	p.S832S(1)	kidney(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2494-2496)agC>agT		complement component (3d/Epstein Barr virus) receptor 2		C	,	1,4405	2.1+/-5.4	0,1,2202	133	135	134		2496,2319	1.3	0.9	1	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CR2	NM_001006658.2,NM_001877.4	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	832/1093,773/1034	207648341	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648341C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2319C>T	1.37:g.207648341C>T						CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367058.3_Silent_p.S773S|CR2_ENST00000367059.3_Silent_p.S773S	p.S832S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			14	2685	+			901			Sushi 13.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.2496C>T	CCDS1478.1																																																																																				0.443	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		159	443	0	0	0	1	0	159	443					T	207648341	C	T	207648341	2	4	79	1	0	0	0	0	0	0	0	1	3851	767	27	1		1	CR2	1	207648341	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4962	207648341	41602280	1730	12047											
CR1	1378	broad.mit.edu	37	chr1	207669657	207669657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagcctgtcgggccgccGgcgcccggtctccccttctg	14	19	2	0	rs375945701		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207669657G>A	ENST00000367049.4	+	1	45	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367051.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	15					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGGGCCGCCGGCGCCCGGTC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13255	0.0		0.0	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(43-45)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)		G	,	3,3641		0,3,1819	20	26	24		45,45	-3.8	0	1		24	0,8142		0,0,4071	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5890	AA,AG,GG		0.0,0.0823,0.0255	,	15/2040,15/2490	207669657	3,11783	1822	4071	5893	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207669657G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.45G>A	1.37:g.207669657G>A						CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Silent_p.P15P	p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			1	45	+			15					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.45G>A	CCDS44308.1																																																																																				0.637	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	302	0	0	0	1	0	10	302					A	207669657	G	A	207669657	2	1	79	1	0	0	0	0	0	0	0	1	3849	1103	39	1		1	CR1	1	207669657	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21316	207669657	41580964	1731	12048											
CR1	1378	broad.mit.edu	37	chr1	207696994	207696994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccccaccatcaccaatggaGatttcattagcaccaacaga	5	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207696994G>A	ENST00000367049.4	+	5	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367052.1_Missense_Mutation_p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	176	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCAATGGAGATTTCATTAG	0.448																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(526-528)Gat>Aat		complement component (3b/4b) receptor 1 (Knops blood group)							81	73	75					1																	207696994		1849	4081	5930	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207696994G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.526G>A	1.37:g.207696994G>A	ENSP00000356016:p.Asp176Asn					CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Intron	p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			5	526	+			176			Sushi 3.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.526G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245631	0.22796	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.16	-3.25	0.05079	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25938	0.0632	L	0.54863	1.705	0.09310	N	1	B;D;B;B;B	0.65815	0.005;0.995;0.209;0.005;0.012	B;D;B;B;B	0.65987	0.01;0.94;0.255;0.01;0.01	T	0.24977	-1.0145	9	0.18276	T	0.48	.	0.2928	0.00261	0.2781:0.1416:0.292:0.2883	.	626;176;151;176;176	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	N	176	ENSP00000356019:D176N;ENSP00000356020:D176N;ENSP00000383744:D176N;ENSP00000436139:D176N;ENSP00000356016:D176N	ENSP00000356016:D176N	D	+	1	0	CR1	205763617	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	-1.635000	0.02018	-0.458000	0.07023	0.461000	0.40582	GAT		0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		11	339	0	0	0	1	0	11	339					A	207696994	G	A	207696994	3	1	79	1	0	0	0	0	1	0	0	0	3849	942	33	2	544	2	CR1	1	207696994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27337	207696994	41553627	1732	12049											
CR1L	1379	broad.mit.edu	37	chr1	207850896	207850896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactcagtctggacaagtgCtaaggacaagtgcaaacgta	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207850896C>A	ENST00000508064.2	+	2	320	c.260C>A	c.(259-261)gCt>gAt	p.A87D	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	87	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGACAAGTGCTAAGGACAAG	0.418																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(259-261)gCt>gAt		complement component (3b/4b) receptor 1-like							183	165	171					1																	207850896		1854	4091	5945	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207850896C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.260C>A	1.37:g.207850896C>A	ENSP00000421736:p.Ala87Asp					CR1L_ENST00000530905.1_3'UTR	p.A87D	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			2	320	+			87			Sushi 1.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.260C>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123116	0.37436	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64803	-0.12	2.55	-0.926	0.10455	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68118	0.2966	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	D	0.66196	0.942	T	0.58399	-0.7643	9	0.12430	T	0.62	.	5.3964	0.16271	0.0:0.4516:0.0:0.5484	.	87	Q2VPA4	CR1L_HUMAN	D	87	ENSP00000421736:A87D	ENSP00000434864:A31D	A	+	2	0	CR1L	205917519	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.768000	0.04715	-0.217000	0.10033	0.400000	0.26472	GCT		0.418	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		23	766	1	0	6.21321e-17	1	6.84222e-17	23	766					A	207850896	C	A	207850896	3	1	79	1	0	0	0	0	1	0	0	0	3850	797	28	3	266	3	CR1L	1	207850896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153902	207850896	41399725	1733	12050											
CR1L	1379	broad.mit.edu	37	chr1	207881576	207881576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctctcgggcaatactgCccattggagcatgaagccac	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	ENST00000508064.2	+	10	1442	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	461	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAATACTGCCCATTGGAGC	0.433																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1381-1383)gCc>gTc		complement component (3b/4b) receptor 1-like							272	261	265					1																	207881576		1896	4113	6009	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207881576C>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1382C>T	1.37:g.207881576C>T	ENSP00000421736:p.Ala461Val					CR1L_ENST00000530905.1_Intron	p.A461V	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			10	1442	+			461			Sushi 7.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1382C>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	7.273	0.607529	0.14002	.	.	ENSG00000197721	ENST00000508064	T	0.65364	-0.15	1.67	0.527	0.17084	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23886	0.0578	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	9	0.39692	T	0.17	.	3.1841	0.06594	0.0:0.2671:0.0:0.7329	.	461	Q2VPA4	CR1L_HUMAN	V	461	ENSP00000421736:A461V	ENSP00000421736:A461V	A	+	2	0	CR1L	205948199	0.001000	0.12720	0.003000	0.11579	0.054000	0.15201	-0.045000	0.12003	0.140000	0.18849	0.298000	0.19748	GCC		0.433	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		29	668	0	0	0	1	0	29	668					T	207881576	C	T	207881576	3	4	79	1	0	0	0	0	1	0	0	0	3850	739	26	2	1420	2	CR1L	1	207881576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30680	207881576	41369045	1734	12051											
CR1L	1379	broad.mit.edu	37	chr1	207891028	207891028	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctgtgaacttcctgTtggtgctggtcagtatccgc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207891028T>G	ENST00000508064.2	+	11	1694	c.1634T>G	c.(1633-1635)gTt>gGt	p.V545G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	545						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAACTTCCTGTTGGTGCTGGT	0.488																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1633-1635)gTt>gGt		complement component (3b/4b) receptor 1-like							116	117	116					1																	207891028		1980	4142	6122	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207891028T>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1634T>G	1.37:g.207891028T>G	ENSP00000421736:p.Val545Gly						p.V545G	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			11	1694	+			545					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1634T>G	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407155	0.11754	.	.	ENSG00000197721	ENST00000508064	T	0.35236	1.32	2.69	-4.61	0.03380	.	.	.	.	.	T	0.12433	0.0302	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	9	0.15499	T	0.54	.	5.2491	0.15512	0.0:0.4568:0.242:0.3012	.	545	Q2VPA4	CR1L_HUMAN	G	545	ENSP00000421736:V545G	ENSP00000421736:V545G	V	+	2	0	CR1L	205957651	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.570000	0.05895	-0.593000	0.05844	-0.756000	0.03474	GTT		0.488	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		10	574	0	0	0	1	0	10	574					G	207891028	T	G	207891028	3	3	79	1	0	0	0	0	1	0	0	0	3850	1725	60	4	1676	4	CR1L	1	207891028	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9452	207891028	41359593	1735	12052											
CD46	4179	broad.mit.edu	37	chr1	207943701	207943701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagcctccagtctcaaatTatccaggttggttaactctt	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207943701T>C	ENST00000358170.2	+	9	1138	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	CD46_ENST00000361067.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	328					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGTCTCAAATTATCCAGGTTG	0.313																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(982-984)Tat>Cat		CD46 molecule, complement regulatory protein							78	84	82					1																	207943701		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207943701T>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.982T>C	1.37:g.207943701T>C	ENSP00000350893:p.Tyr328His					CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000361067.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000360212.2_Intron|CD46_ENST00000480003.1_Intron	p.Y328H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			9	1138	+			328					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.982T>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	7.715	0.696002	0.15106	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839	T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	3.44	-5.85	0.02311	.	1.535010	0.04251	N	0.338652	T	0.52741	0.1753	L	0.32530	0.975	0.09310	N	1	P;B;B;D;D;D;B;D	0.89917	0.936;0.42;0.184;1.0;0.997;0.965;0.184;0.995	P;B;B;D;D;P;B;D	0.74674	0.512;0.098;0.057;0.984;0.944;0.563;0.057;0.969	T	0.52888	-0.8515	10	0.17369	T	0.5	.	5.7131	0.17945	0.0:0.4127:0.3143:0.273	.	298;313;298;328;313;298;313;328	P15529-4;P15529-3;P15529-12;P15529-2;P15529-11;P15529-9;P15529-8;P15529	.;.;.;.;.;.;.;MCP_HUMAN	H	328;313;298;313;298;298;328;265;313	ENSP00000350893:Y328H;ENSP00000346912:Y313H;ENSP00000314664:Y298H;ENSP00000356009:Y313H;ENSP00000356008:Y298H;ENSP00000350346:Y298H;ENSP00000313875:Y328H;ENSP00000356014:Y265H;ENSP00000413543:Y313H	ENSP00000313875:Y328H	Y	+	1	0	CD46	206010324	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-1.745000	0.01831	-1.274000	0.02421	0.402000	0.26972	TAT		0.313	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		21	517	0	0	0	1	0	21	517					C	207943701	T	C	207943701	3	2	79	1	0	0	0	0	1	0	0	0	3027	1754	61	4	1016	4	CD46	1	207943701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52673	207943701	41306920	1736	12053											
CD34	947	broad.mit.edu	37	chr1	208062870	208062870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcagactgggcaaggaGcagggagcatacctgggccc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208062870G>A	ENST00000310833.7	-	5	1015	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.L232F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	232					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGGGCAAGGAGCAGGGAGCAT	0.617																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(694-696)Ctc>Ttc		CD34 molecule							75	70	72					1																	208062870		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062870G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.694C>T	1.37:g.208062870G>A	ENSP00000310036:p.Leu232Phe					CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.L232F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F	p.L232F	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			5	1015	-			232					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.694C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269298	0.59540	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.38	3.32	0.38043	.	0.574499	0.17561	N	0.169820	T	0.43634	0.1256	M	0.63428	1.95	0.27559	N	0.950238	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.70487	0.969;0.956;0.935;0.952	T	0.16988	-1.0384	10	0.46703	T	0.11	-3.214	9.9748	0.41777	0.0:0.0:0.5552:0.4448	.	97;232;232;74	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	F	232;232;74;97;202	ENSP00000310036:L232F;ENSP00000348916:L232F;ENSP00000356003:L74F;ENSP00000442874:L97F	ENSP00000310036:L232F	L	-	1	0	CD34	206129493	0.907000	0.30839	0.849000	0.33467	0.742000	0.42306	0.784000	0.26816	1.243000	0.43853	0.650000	0.86243	CTC		0.617	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	183	0	0	0	1	0	5	183					A	208062870	G	A	208062870	3	1	79	1	0	0	0	0	1	0	0	0	3015	971	34	2	498	2	CD34	1	208062870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	208062870	41187751	1737	12054											
PLXNA2	5362	broad.mit.edu	37	chr1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttccttgcactccaaggCcacacgggactccagattgt	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1286					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCCAAGGCCACACGGGAC	0.527																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3856-3858)Gcc>Acc		plexin A2							99	79	85					1																	208217871		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208217871C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3856G>A	1.37:g.208217871C>T	ENSP00000356000:p.Ala1286Thr						p.A1286T	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	20	4613	-			1286					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3856G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557458	0.86231	.	.	ENSG00000076356	ENST00000367033	T	0.01034	5.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02333	-1.1175	10	0.66056	D	0.02	.	18.2148	0.89881	0.0:1.0:0.0:0.0	.	1286	O75051	PLXA2_HUMAN	T	1286	ENSP00000356000:A1286T	ENSP00000356000:A1286T	A	-	1	0	PLXNA2	206284494	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.538000	0.82048	2.281000	0.76405	0.467000	0.42956	GCC		0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		58	208	0	0	0	1	0	58	208					T	208217871	C	T	208217871	3	4	79	1	0	0	0	0	1	0	0	0	12162	739	26	2	1880	2	PLXNA2	1	208217871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155001	208217871	41032750	1738	12055											
PLXNA2	5362	broad.mit.edu	37	chr1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaatgctccactctggctCgatgcgctggacccgagggt	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1047	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCTGGCTCGATGCGCTGG	0.597																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3139-3141)Gag>Aag		plexin A2							77	66	69					1																	208224623		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208224623C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3139G>A	1.37:g.208224623C>T	ENSP00000356000:p.Glu1047Lys						p.E1047K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	16	3896	-			1047			IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3139G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604567	0.87157	.	.	ENSG00000076356	ENST00000367033	T	0.77489	-1.1	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048539	0.85682	D	0.000000	T	0.80265	0.4591	L	0.56396	1.775	0.80722	D	1	D	0.59767	0.986	P	0.51742	0.678	T	0.76429	-0.2962	10	0.12766	T	0.61	.	18.5087	0.90907	0.0:1.0:0.0:0.0	.	1047	O75051	PLXA2_HUMAN	K	1047	ENSP00000356000:E1047K	ENSP00000356000:E1047K	E	-	1	0	PLXNA2	206291246	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.485000	0.81204	2.363000	0.80096	0.557000	0.71058	GAG		0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		44	262	0	0	0	1	0	44	262					T	208224623	C	T	208224623	3	4	79	1	0	0	0	0	1	0	0	0	12162	893	31	1	2613	1	PLXNA2	1	208224623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6752	208224623	41025998	1739	12056											
PLXNA2	5362	broad.mit.edu	37	chr1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgctggagctgttgaagcGcagagcggggacccggtgga	18	9	0	2	rs374437126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	754					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2260-2262)Cgc>Tgc		plexin A2		G	CYS/ARG	0,4406		0,0,2203	64	70	68		2260	5.7	1	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	754/1895	208257763	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257763G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2260C>T	1.37:g.208257763G>A	ENSP00000356000:p.Arg754Cys						p.R754C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	3017	-			754					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2260C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856472	0.91355	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.01087	-1.1456	10	0.56958	D	0.05	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	754	O75051	PLXA2_HUMAN	C	754	ENSP00000356000:R754C	ENSP00000356000:R754C	R	-	1	0	PLXNA2	206324386	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.527000	0.81931	2.676000	0.91093	0.650000	0.86243	CGC		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		125	365	0	0	0	1	0	125	365					A	208257763	G	A	208257763	3	1	79	1	0	0	0	0	1	0	0	0	12162	1087	38	1	3516	1	PLXNA2	1	208257763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33140	208257763	40992858	1740	12057											
PLXNA2	5362	broad.mit.edu	37	chr1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgagtgcagaggttgcGgtacttgcaccaatggcagc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGGTTGCGGTACTTGCAC	0.547																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2032-2034)Cgc>Tgc		plexin A2							100	86	91					1																	208266196		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208266196G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2032C>T	1.37:g.208266196G>A	ENSP00000356000:p.Arg678Cys						p.R678C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	9	2789	-			678					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2032C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971966	0.92919	.	.	ENSG00000076356	ENST00000367033	T	0.18502	2.21	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.51227	0.1662	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55528	-0.8127	10	0.72032	D	0.01	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	678	O75051	PLXA2_HUMAN	C	678	ENSP00000356000:R678C	ENSP00000356000:R678C	R	-	1	0	PLXNA2	206332819	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.249000	0.72427	2.778000	0.95560	0.655000	0.94253	CGC		0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		30	223	0	0	0	1	0	30	223					A	208266196	G	A	208266196	3	1	79	1	0	0	0	0	1	0	0	0	12162	1116	39	1	3748	1	PLXNA2	1	208266196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8433	208266196	40984425	1741	12058											
PLXNA2	5362	broad.mit.edu	37	chr1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccacagaggtcatgCggtccctgctggtggtgtac	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGGTCATGCGGTCCCTGCT	0.542																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1291-1293)cGc>cAc		plexin A2							118	86	97					1																	208383704		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208383704C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1292G>A	1.37:g.208383704C>T	ENSP00000356000:p.Arg431His						p.R431H	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	3	2049	-			431			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1292G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254088	0.80135	.	.	ENSG00000076356	ENST00000367033	T	0.12672	2.66	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.62491	0.814;0.903	T	0.01390	-1.1367	10	0.21014	T	0.42	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	485;431	O75051-2;O75051	.;PLXA2_HUMAN	H	431	ENSP00000356000:R431H	ENSP00000356000:R431H	R	-	2	0	PLXNA2	206450327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.652000	0.90054	0.655000	0.94253	CGC		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	183	0	0	0	1	0	39	183					T	208383704	C	T	208383704	3	4	79	1	0	0	0	0	1	0	0	0	12162	768	27	1	4512	1	PLXNA2	1	208383704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117508	208383704	40866917	1742	12059											
PLXNA2	5362	broad.mit.edu	37	chr1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatgaagagcttgccaTcctcaccctcagagcgcaca	9	15	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGCTTGCCATCCTCACCCTC	0.592																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(535-537)gAt>gTt		plexin A2							145	146	146					1																	208390732		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390732T>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.536A>T	1.37:g.208390732T>A	ENSP00000356000:p.Asp179Val						p.D179V	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1293	-			179			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.536A>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	7.667	0.686145	0.14973	.	.	ENSG00000076356	ENST00000367033	T	0.04234	3.67	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.08802	0.0218	L	0.59436	1.845	0.80722	D	1	P;B	0.40282	0.711;0.209	B;B	0.39379	0.298;0.109	T	0.03662	-1.1015	9	0.54805	T	0.06	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	233;179	O75051-2;O75051	.;PLXA2_HUMAN	V	179	ENSP00000356000:D179V	ENSP00000356000:D179V	D	-	2	0	PLXNA2	206457355	1.000000	0.71417	0.532000	0.27989	0.096000	0.18686	7.751000	0.85126	2.178000	0.69098	0.460000	0.39030	GAT		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		354	746	0	0	0	1	0	354	746					A	208390732	T	A	208390732	3	1	79	1	0	0	0	0	1	0	0	0	12162	1435	50	5	5272	5	PLXNA2	1	208390732	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7028	208390732	40859889	1743	12060											
CAMK1G	57172	broad.mit.edu	37	chr1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgagaaggccttgaGtcatccctggtgagtgagac	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(817-819)aGt>aTt		calcium/calmodulin-dependent protein kinase IG							161	135	144					1																	209783265		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209783265G>T		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.818G>T	1.37:g.209783265G>T	ENSP00000009105:p.Ser273Ile					CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I	p.S273I			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	9	1063	+			273			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.818G>T	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620103	0.46736	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.66460	-0.21;-0.21	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.195621	0.36101	N	0.002785	T	0.64011	0.2560	M	0.67625	2.065	0.26610	N	0.972854	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.006	T	0.60850	-0.7181	10	0.62326	D	0.03	.	11.7699	0.51951	0.0818:0.0:0.9182:0.0	.	273;273	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	I	273	ENSP00000009105:S273I;ENSP00000354861:S273I	ENSP00000009105:S273I	S	+	2	0	CAMK1G	207849888	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.297000	0.43593	2.383000	0.81215	0.313000	0.20887	AGT		0.498	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		49	232	1	0	5.39261e-20	1	6.03032e-20	49	232					T	209783265	G	T	209783265	3	4	79	1	0	0	0	0	1	0	0	0	2605	1029	36	3	848	3	CAMK1G	1	209783265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1392533	209783265	39467356	1744	12061											
LAMB3	3914	broad.mit.edu	37	chr1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagccacctgccccgCcatcaagaaggccccaccgg	9	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000356082.4	-	17	2628	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S|LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	832	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2494-2496)Gcg>Tcg		laminin, beta 3							59	71	67					1																	209796389		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796389C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2494G>T	1.37:g.209796389C>A	ENSP00000348384:p.Ala832Ser					LAMB3_ENST00000356082.4_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S	p.A832S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	16	2883	-			832			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2494G>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303492	0.40795	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.49139	0.79;0.79;0.79	5.21	4.28	0.50868	.	0.115379	0.64402	D	0.000019	T	0.57417	0.2052	M	0.77616	2.38	0.21841	N	0.999519	D	0.58620	0.983	P	0.53313	0.723	T	0.54139	-0.8338	10	0.52906	T	0.07	.	8.3981	0.32570	0.1556:0.7661:0.0:0.0783	.	832	Q13751	LAMB3_HUMAN	S	832	ENSP00000375778:A832S;ENSP00000348384:A832S;ENSP00000355997:A832S	ENSP00000348384:A832S	A	-	1	0	LAMB3	207863012	0.973000	0.33851	0.045000	0.18777	0.218000	0.24690	2.419000	0.44671	1.193000	0.43086	0.456000	0.33151	GCG		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		76	787	1	0	1.50424e-25	1	1.72683e-25	76	787					A	209796389	C	A	209796389	3	1	79	1	0	0	0	0	1	0	0	0	8643	739	26	3	1052	3	LAMB3	1	209796389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13124	209796389	39454232	1745	12062											
HSD11B1	3290	broad.mit.edu	37	chr1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtcacaggggccagcAaagggatcggaagagagatg	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	44					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGGGGCCAGCAAAGGGATCGG	0.507																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(130-132)Aaa>Gaa		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)						126	122	123					1																	209879197		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209879197A>G	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.130A>G	1.37:g.209879197A>G	ENSP00000355995:p.Lys44Glu					HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	p.K44E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	3	299	+			44					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.130A>G	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633986	0.47049	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.51574	0.7;0.7;0.7	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.312885	0.31834	N	0.006993	T	0.31482	0.0798	N	0.25957	0.775	0.35651	D	0.811754	B	0.33583	0.418	B	0.30105	0.111	T	0.46978	-0.9152	10	0.59425	D	0.04	.	9.0331	0.36271	0.8352:0.0:0.0:0.1647	.	44	P28845	DHI1_HUMAN	E	44	ENSP00000355995:K44E;ENSP00000261465:K44E;ENSP00000355994:K44E	ENSP00000261465:K44E	K	+	1	0	HSD11B1	207945820	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.909000	0.63314	1.746000	0.51805	0.363000	0.22086	AAA		0.507	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		113	272	0	0	0	1	0	113	272					G	209879197	A	G	209879197	3	3	79	1	0	0	0	0	1	0	0	0	7405	131	5	4	136	4	HSD11B1	1	209879197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82808	209879197	39371424	1746	12063											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209935961	209935961	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacaggctgggggcctTcctccacaggacactcccat	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	149						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTGGGGGCCTTCCTCCACAGG	0.592																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(445-447)ctT>ctG		TRAF3 interacting protein 3							63	63	63					1																	209935961		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209935961T>G		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.447T>G	1.37:g.209935961T>G						TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L	p.L149L			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	4	963	+			149					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.447T>G	CCDS1490.2																																																																																				0.592	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			63	301	0	0	0	1	0	63	301					G	209935961	T	G	209935961	2	3	79	1	0	0	0	0	0	0	0	1	16495	1770	62	4		4	TRAF3IP3	1	209935961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56764	209935961	39314660	1747	12064											
C1orf74	148304	broad.mit.edu	37	chr1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcagagggccacagccGgcagtgtgactatctcagag	13	10	2	3	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(793-795)cCg>cTg		chromosome 1 open reading frame 74		G	LEU/PRO	0,4406		0,0,2203	106	113	110		794	3.7	0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf74	NM_152485.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/270	209956186	1,13005	2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956186G>A	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.794C>T	1.37:g.209956186G>A	ENSP00000294811:p.Pro265Leu						p.P265L	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	1050	-			265						Missense_Mutation	SNP	ENST00000294811.1	37	c.794C>T	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930427	0.52866	0.0	1.16E-4	ENSG00000162757	ENST00000294811	T	0.47528	0.84	5.75	3.65	0.41850	.	0.196250	0.45126	N	0.000382	T	0.44052	0.1275	M	0.65498	2.005	0.80722	D	1	P	0.35192	0.489	B	0.31946	0.138	T	0.42085	-0.9472	10	0.72032	D	0.01	-10.2285	10.4299	0.44400	0.0741:0.0:0.7951:0.1308	.	265	Q96LT6	CA074_HUMAN	L	265	ENSP00000294811:P265L	ENSP00000294811:P265L	P	-	2	0	C1orf74	208022809	1.000000	0.71417	0.014000	0.15608	0.987000	0.75469	5.814000	0.69208	0.618000	0.30179	0.655000	0.94253	CCG		0.468	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		118	553	0	0	0	1	0	118	553					A	209956186	G	A	209956186	3	1	79	1	0	0	0	0	1	0	0	0	2065	1116	39	1	19	1	C1orf74	1	209956186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20225	209956186	39294435	1748	12065											
C1orf74	148304	broad.mit.edu	37	chr1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggttctgaggtccttctcCcaggtgtttagaatgtccct	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(712-714)tgG>tgT		chromosome 1 open reading frame 74							84	92	89					1																	209956266		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956266C>A	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.714G>T	1.37:g.209956266C>A	ENSP00000294811:p.Trp238Cys						p.W238C	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	970	-			238						Missense_Mutation	SNP	ENST00000294811.1	37	c.714G>T	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246145	0.80024	.	.	ENSG00000162757	ENST00000294811	T	0.65178	-0.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80243	-0.1463	10	0.87932	D	0	-48.2684	19.9376	0.97146	0.0:1.0:0.0:0.0	.	238	Q96LT6	CA074_HUMAN	C	238	ENSP00000294811:W238C	ENSP00000294811:W238C	W	-	3	0	C1orf74	208022889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.960000	0.76036	2.711000	0.92665	0.655000	0.94253	TGG		0.512	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		84	462	1	0	2.47556e-37	1	2.97223e-37	84	462					A	209956266	C	A	209956266	3	1	79	1	0	0	0	0	1	0	0	0	2065	624	22	3	99	3	C1orf74	1	209956266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	209956266	39294355	1749	12066											
C1orf74	148304	broad.mit.edu	37	chr1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatagggaacaggatagCccaggaggatcccaaataca	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(532-534)gGc>gAc		chromosome 1 open reading frame 74							103	110	108					1																	209956447		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956447C>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.533G>A	1.37:g.209956447C>T	ENSP00000294811:p.Gly178Asp						p.G178D	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	789	-			178						Missense_Mutation	SNP	ENST00000294811.1	37	c.533G>A	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131307	0.77549	.	.	ENSG00000162757	ENST00000294811	T	0.57752	0.38	5.27	5.27	0.74061	.	0.120074	0.56097	D	0.000026	T	0.70631	0.3246	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73260	-0.4039	10	0.62326	D	0.03	-20.993	12.2654	0.54674	0.0:0.922:0.0:0.078	.	178	Q96LT6	CA074_HUMAN	D	178	ENSP00000294811:G178D	ENSP00000294811:G178D	G	-	2	0	C1orf74	208023070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.460000	0.83146	0.655000	0.94253	GGC		0.507	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		134	445	0	0	0	1	0	134	445					T	209956447	C	T	209956447	3	4	79	1	0	0	0	0	1	0	0	0	2065	739	26	2	280	2	C1orf74	1	209956447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	209956447	39294174	1750	12067											
IRF6	3664	broad.mit.edu	37	chr1	209963840	209963840	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgagaaatgacttacCgctaaggaatgtttccagac	8	9	1	3	rs200808685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	IRF6_ENST00000542854.1_Splice_Site_p.D259N|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	354					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AATGACTTACCGCTAAGGAAT	0.473										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e7+1		interferon regulatory factor 6		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	67	62	64		775,1060	5.8	1	1		64	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice,missense-near-splice	IRF6	NM_001206696.1,NM_006147.3	23,23	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	259/373,354/468	209963840	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963840C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1060+1G>A	1.37:g.209963840C>T		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site_p.D259_splice	p.D354_splice	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1232	-			354					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37	c.1060_splice	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922566	0.52653	0.0	4.65E-4	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94966	-3.57;-3.57	5.75	5.75	0.90469	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.407669	0.31461	N	0.007618	D	0.90943	0.7153	L	0.35542	1.07	0.58432	D	0.999995	B	0.31910	0.346	B	0.29663	0.105	D	0.88126	0.2835	9	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	354	O14896	IRF6_HUMAN	N	354;259	ENSP00000355988:D354N;ENSP00000440532:D259N	.	D	-	1	0	IRF6	208030463	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.311000	0.78958	2.716000	0.92895	0.655000	0.94253	GAT		0.473	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Missense_Mutation	68	215	0	0	0	1	0	68	215					T	209963840	C	T	209963840	5	4	79	1	0	0	0	0	0	0	1	0	7864	666	23	1	355	1	IRF6	1	209963840	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7393	209963840	39286781	1751	12068											
IRF6	3664	broad.mit.edu	37	chr1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacaccttgcactggcAcagcctgatggcataaatgg	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_ENST00000542854.1_Missense_Mutation_p.C222R|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(949-951)Tgc>Cgc		interferon regulatory factor 6							95	78	84					1																	209963951		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963951A>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.949T>C	1.37:g.209963951A>G	ENSP00000355988:p.Cys317Arg	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.C222R	p.C317R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1121	-			317					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.949T>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002788	0.74932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95788	-3.81;-3.81	6.17	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.040056	0.85682	D	0.000000	D	0.97614	0.9218	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	9	.	.	.	.	12.7001	0.57026	0.8765:0.0:0.0:0.1235	.	317	O14896	IRF6_HUMAN	R	317;222	ENSP00000355988:C317R;ENSP00000440532:C222R	.	C	-	1	0	IRF6	208030574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.747000	0.91610	1.097000	0.41459	0.533000	0.62120	TGC		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		57	272	0	0	0	1	0	57	272					G	209963951	A	G	209963951	3	3	79	1	0	0	0	0	1	0	0	0	7864	159	6	4	466	4	IRF6	1	209963951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	111	209963951	39286670	1752	12069											
IRF6	3664	broad.mit.edu	37	chr1	209965773	209965773	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcgccatgggagaacCtaaaacaaaagcatatggtg	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)																												ENST00000367021.3																			2	Unknown(2)	p.?(2)	lung(2)	cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e6-1		interferon regulatory factor 6							60	54	56					1																	209965773		2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209965773C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.509-1G>A	1.37:g.209965773C>T		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site		NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	681	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37		CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001223	0.74818	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.		0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	46	181	0	0	0	1	0	46	181					T	209965773	C	T	209965773	5	4	79	1	0	0	0	0	0	0	1	0	7864	695	24	2	911	2	IRF6	1	209965773	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1822	209965773	39284848	1753	12070											
IRF6	3664	broad.mit.edu	37	chr1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttattgagagcacagcgcagCtgggccttccatttagctgg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(244-246)caG>caC		interferon regulatory factor 6							108	88	95					1																	209969826		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969826C>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.246G>C	1.37:g.209969826C>G	ENSP00000355988:p.Gln82His	HNSCC(57;0.16)				IRF6_ENST00000542854.1_5'UTR	p.Q82H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	418	-			82		Q -> K (in PPS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.246G>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743250	0.69418	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97752	-4.52;-4.52	5.63	3.53	0.40419	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052631	0.85682	D	0.000000	D	0.97161	0.9072	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.95928	0.8936	9	.	.	.	.	11.3709	0.49699	0.0:0.808:0.0:0.192	.	82	O14896	IRF6_HUMAN	H	82	ENSP00000355988:Q82H;ENSP00000403855:Q82H	.	Q	-	3	2	IRF6	208036449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	1.375000	0.46248	0.655000	0.94253	CAG		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		66	193	0	0	0	1	0	66	193					G	209969826	C	G	209969826	3	3	79	1	0	0	0	0	1	0	0	0	7864	796	28	5	1181	5	IRF6	1	209969826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	209969826	39280795	1754	12071											
C1orf107	27042	broad.mit.edu	37	chr1	210003473	210003473	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccagaaaggaagcaaAgccacagatttgtcaactgg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210003473A>C	ENST00000491415.2	+	2	185	c.128A>C	c.(127-129)aAg>aCg	p.K43T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	43					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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						AAGGAAGCAAAGCCACAGATT	0.323																																						ENST00000491415.2																			0				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						c.(127-129)aAg>aCg		digestive organ expansion factor homolog (zebrafish)							153	152	152					1																	210003473		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210003473A>C	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.128A>C	1.37:g.210003473A>C	ENSP00000419005:p.Lys43Thr						p.K43T	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			2	185	+			43					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.128A>C	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494594	0.26774	.	.	ENSG00000117597	ENST00000491415	T	0.48201	0.82	4.61	4.61	0.57282	.	0.211553	0.47093	D	0.000249	T	0.40498	0.1119	L	0.49350	1.555	0.29871	N	0.826792	B	0.17852	0.024	B	0.15870	0.014	T	0.39099	-0.9630	10	0.42905	T	0.14	-24.85	9.8382	0.40982	0.6695:0.3305:0.0:0.0	.	43	Q68CQ4	DIEXF_HUMAN	T	43	ENSP00000419005:K43T	ENSP00000419005:K43T	K	+	2	0	DIEXF	208070096	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.872000	0.28037	1.924000	0.55735	0.459000	0.35465	AAG		0.323	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		55	157	0	0	0	1	0	55	157					C	210003473	A	C	210003473	3	2	79	1	0	0	0	0	1	0	0	0	1988	72	3	4	134	4	C1orf107	1	210003473	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33647	210003473	39247148	1755	12072											
C1orf107	27042	broad.mit.edu	37	chr1	210004254	210004254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaagaatgtttctgaggAagaagaggaagatgaggagg	15	1	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210004254A>G	ENST00000491415.2	+	3	311	c.254A>G	c.(253-255)gAa>gGa	p.E85G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	85	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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						GTTTCTgaggaagaagaggaa	0.423																																						ENST00000491415.2																			0				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						c.(253-255)gAa>gGa		digestive organ expansion factor homolog (zebrafish)							103	94	97					1																	210004254		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210004254A>G	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.254A>G	1.37:g.210004254A>G	ENSP00000419005:p.Glu85Gly						p.E85G	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			3	311	+			85			Glu-rich.		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.254A>G	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943940	0.34283	.	.	ENSG00000117597	ENST00000491415	T	0.49432	0.78	3.63	3.63	0.41609	.	1.108070	0.06638	N	0.760577	T	0.46210	0.1381	M	0.61703	1.905	0.34868	D	0.743271	B	0.12630	0.006	B	0.08055	0.003	T	0.47275	-0.9130	10	0.36615	T	0.2	-3.4558	8.1725	0.31262	0.7137:0.2863:0.0:0.0	.	85	Q68CQ4	DIEXF_HUMAN	G	85	ENSP00000419005:E85G	ENSP00000419005:E85G	E	+	2	0	DIEXF	208070877	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.775000	0.62346	1.427000	0.47276	0.533000	0.62120	GAA		0.423	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		70	341	0	0	0	1	0	70	341					G	210004254	A	G	210004254	3	3	79	1	0	0	0	0	1	0	0	0	1988	246	9	4	264	4	C1orf107	1	210004254	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	781	210004254	39246367	1756	12073											
SYT14	255928	broad.mit.edu	37	chr1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcctaaaccttttgAtcctgagccagaagctaaat	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000472886.1	+	6	775	c.761A>C	c.(760-762)gAt>gCt	p.D254A	SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	254					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(646-648)gAt>gCt		synaptotagmin XIV							65	62	63					1																	210273403		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273403A>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.761A>C	1.37:g.210273403A>C	ENSP00000418901:p.Asp254Ala					SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000472886.1_Missense_Mutation_p.D254A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A	p.D216A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	7	1038	+			254					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.647A>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	5.88	3.53	0.40419	C2 calcium/lipid-binding domain, CaLB (1);	0.207325	0.49305	D	0.000159	T	0.08403	0.0209	N	0.19112	0.55	0.52501	D	0.999958	B;B;P;B	0.49961	0.035;0.013;0.93;0.059	B;B;P;B	0.50440	0.017;0.01;0.641;0.039	T	0.32481	-0.9905	10	0.40728	T	0.16	-13.0195	7.8436	0.29412	0.809:0.0:0.067:0.124	.	282;254;254;299	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	299;254;254;216;254;254;216	ENSP00000389039:D299A;ENSP00000442891:D254A;ENSP00000445837:D254A;ENSP00000437423:D216A;ENSP00000355986:D254A;ENSP00000418901:D254A;ENSP00000355982:D216A	ENSP00000355982:D216A	D	+	2	0	SYT14	208340026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.569000	0.67391	0.457000	0.26962	0.477000	0.44152	GAT		0.383	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		69	221	0	0	0	1	0	69	221					C	210273403	A	C	210273403	3	2	79	1	0	0	0	0	1	0	0	0	15522	333	12	4	922	4	SYT14	1	210273403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	269149	210273403	38977218	1757	12074											
SERTAD4	56256	broad.mit.edu	37	chr1	210415304	210415304	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcatcttcctcttcCtctccccctttgcctttacc	1	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(691-693)tcC>tcA		SERTA domain containing 4							75	69	71					1																	210415304		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415304C>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.693C>A	1.37:g.210415304C>A						SERTAD4_ENST00000490620.1_3'UTR	p.S231S	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	923	+			231			Ser-rich.		B2RD32	Silent	SNP	ENST00000367012.3	37	c.693C>A	CCDS1494.1																																																																																				0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		115	345	1	0	7.59108e-50	1	9.39492e-50	115	345					A	210415304	C	A	210415304	2	1	79	1	0	0	0	0	0	0	0	1	14173	668	24	3		3	SERTAD4	1	210415304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141901	210415304	38835317	1758	12075											
SERTAD4	56256	broad.mit.edu	37	chr1	210415325	210415325	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccccctttgcctttaccGagttgttcccgccaggtgga	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	238	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(712-714)ccG>ccA		SERTA domain containing 4							64	60	61					1																	210415325		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415325G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.714G>A	1.37:g.210415325G>A						SERTAD4_ENST00000490620.1_3'UTR	p.P238P	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	944	+			238			Ser-rich.		B2RD32	Silent	SNP	ENST00000367012.3	37	c.714G>A	CCDS1494.1																																																																																				0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		67	289	0	0	0	1	0	67	289					A	210415325	G	A	210415325	2	1	79	1	0	0	0	0	0	0	0	1	14173	1045	37	1		1	SERTAD4	1	210415325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	210415325	38835296	1759	12076											
SERTAD4	56256	broad.mit.edu	37	chr1	210415340	210415340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgagttgttcccgccaGgtggattttgatgtaggtag	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	243						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(727-729)caG>caA		SERTA domain containing 4							62	57	59					1																	210415340		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415340G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.729G>A	1.37:g.210415340G>A						SERTAD4_ENST00000490620.1_3'UTR	p.Q243Q	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	959	+			243					B2RD32	Silent	SNP	ENST00000367012.3	37	c.729G>A	CCDS1494.1																																																																																				0.498	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		58	251	0	0	0	1	0	58	251					A	210415340	G	A	210415340	2	1	79	1	0	0	0	0	0	0	0	1	14173	991	35	2		2	SERTAD4	1	210415340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	210415340	38835281	1760	12077											
HHAT	55733	broad.mit.edu	37	chr1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatcctgtccaacctgGtatttcttgggggcaatgag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	445					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCCAACCTGGTATTTCTTGG	0.483																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1333-1335)Gta>Tta		hedgehog acyltransferase							290	273	278					1																	210796957		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796957G>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1333G>T	1.37:g.210796957G>T	ENSP00000355977:p.Val445Leu					HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L	p.V445L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1560	+			445					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1333G>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401967	0.62288	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.46451	2.17;0.87;2.16;2.16;2.13;2.2;2.17;2.2;2.17;0.88	6.06	6.06	0.98353	.	0.065429	0.64402	D	0.000012	T	0.42017	0.1184	L	0.42686	1.345	0.37062	D	0.898122	P;D;P;P;P	0.53745	0.937;0.962;0.894;0.919;0.937	B;P;B;B;B	0.47827	0.239;0.558;0.437;0.327;0.377	T	0.46569	-0.9182	10	0.49607	T	0.09	-28.2492	11.4562	0.50183	0.0812:0.0:0.9188:0.0	.	400;446;308;380;445	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	445;308;446;380;445;382;445;400;445;135	ENSP00000416845:V445L;ENSP00000444995:V308L;ENSP00000438468:V446L;ENSP00000442625:V380L;ENSP00000375773:V445L;ENSP00000439229:V382L;ENSP00000261458:V445L;ENSP00000308628:V400L;ENSP00000355977:V445L;ENSP00000355976:V135L	ENSP00000261458:V445L	V	+	1	0	HHAT	208863580	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.638000	0.46562	2.879000	0.98667	0.650000	0.86243	GTA		0.483	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		509	1329	1	0	7.53427e-84	1	9.64898e-84	509	1329					T	210796957	G	T	210796957	3	4	79	1	0	0	0	0	1	0	0	0	7119	1261	44	3	1469	3	HHAT	1	210796957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381617	210796957	38453664	1761	12078											
KCNH1	3756	broad.mit.edu	37	chr1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctggccttcacgaggCtgtggttggcggaggcatgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000271751.4	-	11	2369	c.2342G>A	c.(2341-2343)aGc>aAc	p.S781N	KCNH1_ENST00000367007.4_Missense_Mutation_p.S754N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	781					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCACGAGGCTGTGGTTGGC	0.632																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2260-2262)aGc>aAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							58	52	54					1																	210857251		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857251C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2342G>A	1.37:g.210857251C>T	ENSP00000271751:p.Ser781Asn					KCNH1_ENST00000271751.4_Missense_Mutation_p.S781N	p.S754N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2430	-			781			Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2261G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843422	0.16963	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98996	-5.28;-5.31	4.64	2.65	0.31530	.	0.968284	0.08580	N	0.924690	D	0.95661	0.8589	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91852	0.5492	10	0.35671	T	0.21	.	5.6062	0.17381	0.0:0.4757:0.3043:0.2201	.	754;781	Q14CL3;O95259	.;KCNH1_HUMAN	N	781;754	ENSP00000271751:S781N;ENSP00000355974:S754N	ENSP00000271751:S781N	S	-	2	0	KCNH1	208923874	0.000000	0.05858	0.119000	0.21687	0.781000	0.44180	0.876000	0.28092	0.933000	0.37291	0.462000	0.41574	AGC		0.632	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		111	272	0	0	0	1	0	111	272					T	210857251	C	T	210857251	3	4	79	1	0	0	0	0	1	0	0	0	8061	797	28	2	631	2	KCNH1	1	210857251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60294	210857251	38393370	1762	12079											
KCNH1	3756	broad.mit.edu	37	chr1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctccttgaacaccttgCggttcaggtgcacgcagatg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000271751.4	-	9	1745	c.1718G>T	c.(1717-1719)cGc>cTc	p.R573L	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1636-1638)cGc>cTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							62	58	59					1																	210971047		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971047C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1718G>T	1.37:g.210971047C>A	ENSP00000271751:p.Arg573Leu					KCNH1_ENST00000271751.4_Missense_Mutation_p.R573L	p.R546L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1806	-			573					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1637G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233888	0.95207	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96334	-3.98;-3.98	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.975	D	0.98880	1.0769	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	L	573;546	ENSP00000271751:R573L;ENSP00000355974:R546L	ENSP00000271751:R573L	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC		0.617	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		55	306	1	0	2.12129e-23	1	2.41242e-23	55	306					A	210971047	C	A	210971047	3	1	79	1	0	0	0	0	1	0	0	0	8061	768	27	3	1263	3	KCNH1	1	210971047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113796	210971047	38279574	1763	12080											
KCNH1	3756	broad.mit.edu	37	chr1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaatacctgcaggtgctgCttttttgcatcacttctgcc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000271751.4	-	2	218	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000367007.4_Missense_Mutation_p.S64I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	64	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGTGCTGCTTTTTTGCAT	0.423																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(190-192)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							138	140	139					1																	211280608		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211280608C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.191G>T	1.37:g.211280608C>A	ENSP00000271751:p.Ser64Ile					KCNH1_ENST00000271751.4_Missense_Mutation_p.S64I	p.S64I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	2	360	-			64			PAS.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.191G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703773	0.88924	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99691	-6.42;-6.42	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97620	1.0135	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	64;64	Q14CL3;O95259	.;KCNH1_HUMAN	I	64	ENSP00000271751:S64I;ENSP00000355974:S64I	ENSP00000271751:S64I	S	-	2	0	KCNH1	209347231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.634000	0.89283	0.655000	0.94253	AGC		0.423	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		99	468	1	0	1.97301e-41	1	2.39674e-41	99	468					A	211280608	C	A	211280608	3	1	79	1	0	0	0	0	1	0	0	0	8061	797	28	3	2818	3	KCNH1	1	211280608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	309561	211280608	37970013	1764	12081											
RCOR3	55758	broad.mit.edu	37	chr1	211449613	211449613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcacttggcatgttGttctggcataaacataacat	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	65	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(193-195)ttG>ttA		REST corepressor 3							221	220	220					1																	211449613		2203	4300	6503	SO:0001819	synonymous_variant	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211449613G>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.195G>A	1.37:g.211449613G>A						RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L	p.L65L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	4	336	+			65			ELM2.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	c.195G>A	CCDS31016.1																																																																																				0.373	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		265	775	0	0	0	1	0	265	775					A	211449613	G	A	211449613	2	1	79	1	0	0	0	0	0	0	0	1	13234	1368	48	2		2	RCOR3	1	211449613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169005	211449613	37801008	1765	12082											
TRAF5	7188	broad.mit.edu	37	chr1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctcatttggaaggtgaCagattacaagatgaagaaga	11	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	411	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGAAGGTGACAGATTACAAG	0.468																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1231-1233)aCa>aTa		TNF receptor-associated factor 5							125	133	130					1																	211545602		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211545602C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1232C>T	1.37:g.211545602C>T	ENSP00000261464:p.Thr411Ile					TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	11	1286	+			411			MATH.		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.1232C>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367647	0.42003	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37584	2.05;1.19;2.05;2.05	5.16	5.16	0.70880	TRAF-type (1);TRAF-like (1);MATH (2);	0.299246	0.36703	N	0.002445	T	0.42607	0.1210	M	0.76170	2.325	0.34214	D	0.674685	P;B;P	0.48294	0.908;0.437;0.698	B;B;B	0.44224	0.436;0.3;0.444	T	0.60525	-0.7246	10	0.39692	T	0.17	-19.4905	13.3653	0.60680	0.0:0.924:0.0:0.076	.	305;422;411	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	411;305;411;411	ENSP00000336825:T411I;ENSP00000389891:T305I;ENSP00000261464:T411I;ENSP00000355971:T411I	ENSP00000261464:T411I	T	+	2	0	TRAF5	209612225	0.884000	0.30299	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.561000	0.86390	0.650000	0.86243	ACA		0.468	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		271	730	0	0	0	1	0	271	730					T	211545602	C	T	211545602	3	4	79	1	0	0	0	0	1	0	0	0	16497	478	17	2	1270	2	TRAF5	1	211545602	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95989	211545602	37705019	1766	12083											
SLC30A1	7779	broad.mit.edu	37	chr1	211749594	211749594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagatttccattcacttgTacttccactgtatcaccact	3	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	220					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368																																						ENST00000367001.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(658-660)gtA>gtG		solute carrier family 30 (zinc transporter), member 1							36	41	39					1																	211749594		2110	4069	6179	SO:0001819	synonymous_variant	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749594T>C	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.660A>G	1.37:g.211749594T>C							p.V220V	NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	789	-			220					Q0VAK9|Q9BZF6	Silent	SNP	ENST00000367001.4	37	c.660A>G	CCDS1499.1																																																																																				0.368	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			62	261	0	0	0	1	0	62	261					C	211749594	T	C	211749594	2	2	79	1	0	0	0	0	0	0	0	1	14603	1625	57	4		4	SLC30A1	1	211749594	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203992	211749594	37501027	1767	12084											
INTS7	25896	broad.mit.edu	37	chr1	212148514	212148514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaagaggacttactgttaaGgaagcaatccctttgtgata	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S	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	603					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		TTACTGTTAAGGAAGCAATCC	0.373																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1807-1809)tcC>tcA		integrator complex subunit 7							64	61	62					1																	212148514		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212148514G>T	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.1809C>A	1.37:g.212148514G>T						INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000469606.1_5'UTR	p.S603S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	13	1913	-			603					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.1809C>A	CCDS1501.1																																																																																				0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		52	167	1	0	9.59835e-30	1	1.1228e-29	52	167					T	212148514	G	T	212148514	2	4	79	1	0	0	0	0	0	0	0	1	7813	987	35	3		3	INTS7	1	212148514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398920	212148514	37102107	1768	12085											
INTS7	25896	broad.mit.edu	37	chr1	212151704	212151704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccatcacccagcaccggCagttgcatggcaatggctgc	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L	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	460					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		CCAGCACCGGCAGTTGCATGG	0.522																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1378-1380)ctG>ctA		integrator complex subunit 7							111	105	107					1																	212151704		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212151704C>T	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.1380G>A	1.37:g.212151704C>T						INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000469606.1_5'UTR	p.L460L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	11	1484	-			460					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.1380G>A	CCDS1501.1																																																																																				0.522	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		90	521	0	0	0	1	0	90	521					T	212151704	C	T	212151704	2	4	79	1	0	0	0	0	0	0	0	1	7813	697	25	2		2	INTS7	1	212151704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3190	212151704	37098917	1769	12086											
INTS7	25896	broad.mit.edu	37	chr1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaagtctactggtgtcGctaaacctagacacaaaaat	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V	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	188					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				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)		TACTGGTGTCGCTAAACCTAG	0.383																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(562-564)gCg>gTg		integrator complex subunit 7							99	90	93					1																	212180785		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180785G>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.563C>T	1.37:g.212180785G>A	ENSP00000355961:p.Ala188Val					INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000469606.1_5'UTR	p.A188V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	6	667	-			188					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.563C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068795	0.55539	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.148508	0.64402	D	0.000012	T	0.35128	0.0921	L	0.43923	1.385	0.54753	D	0.99998	P;P;P;P	0.50443	0.935;0.935;0.935;0.935	P;P;P;P	0.44772	0.46;0.46;0.46;0.46	T	0.01460	-1.1349	10	0.37606	T	0.19	-9.9486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	139;188;188;188	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	188;188;188;139	ENSP00000355961:A188V;ENSP00000355960:A188V;ENSP00000355959:A188V;ENSP00000388908:A139V	ENSP00000355959:A188V	A	-	2	0	INTS7	210247408	1.000000	0.71417	0.885000	0.34714	0.036000	0.12997	5.077000	0.64419	2.873000	0.98535	0.561000	0.74099	GCG		0.383	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		56	291	0	0	0	1	0	56	291					A	212180785	G	A	212180785	3	1	79	1	0	0	0	0	1	0	0	0	7813	1087	38	1	2385	1	INTS7	1	212180785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29081	212180785	37069836	1770	12087											
DTL	51514	broad.mit.edu	37	chr1	212251574	212251574	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctcaagaggtcacgtcTgtgtgctggtgtccatctga	11	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	MIR3122_ENST00000577243.1_RNA|DTL_ENST00000542077.1_Silent_p.S323S|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	365					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1093-1095)tcT>tcG		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							147	132	137					1																	212251574		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212251574T>G	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1095T>G	1.37:g.212251574T>G						DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S	p.S365S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	12	1409	+			365					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.1095T>G	CCDS1502.1																																																																																				0.413	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		88	310	0	0	0	1	0	88	310					G	212251574	T	G	212251574	2	3	79	1	0	0	0	0	0	0	0	1	4803	1567	55	4		4	DTL	1	212251574	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70789	212251574	36999047	1771	12088											
PPP2R5A	5525	broad.mit.edu	37	chr1	212502503	212502504	+	Frame_Shift_Ins	INS	-	-	T													ttcaaatgaacaacaagagcINSttttctgtcagaagttgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212502503_212502504insT	ENST00000261461.2	+	2	782_783	c.208_209insT	c.(208-210)cttfs	p.L70fs	RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Frame_Shift_Ins_p.L13fs	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	70					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ACAACAAGAGCTTTTCTGTCAG	0.292																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(208-210)tttfs		protein phosphatase 2, regulatory subunit B', alpha																																				SO:0001589	frameshift_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212502503_212502504insT	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.212dupT	1.37:g.212502507_212502507dupT	ENSP00000261461:p.Leu70fs					RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Frame_Shift_Ins_p.F13fs	p.F70fs	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	2	782_783	+			70					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Frame_Shift_Ins	INS	ENST00000261461.2	37	c.208_209insT	CCDS1503.1																																																																																				0.292	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		23	279						23	279	---	---	---	---	T	212502504	-	T	212502503	7	5	79	1	0	1	1	0	0	0	0	0	12439	797	28	0	214	0	PPP2R5A	1	212502503	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	250929	212502503	36748118	1772	12089											
PPP2R5A	5525	broad.mit.edu	37	chr1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgaagactgttctgcaccGaatttatgggaaatttcttg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	213					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTTCTGCACCGAATTTATGGG	0.323																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(637-639)cGa>cAa		protein phosphatase 2, regulatory subunit B', alpha							73	74	74					1																	212519209		2203	4300	6503	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212519209G>A	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.638G>A	1.37:g.212519209G>A	ENSP00000261461:p.Arg213Gln					PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	p.R213Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	5	1212	+			213					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.638G>A	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750126	0.96890	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88499	0.3081	9	0.87932	D	0	-7.3463	19.3549	0.94408	0.0:0.0:1.0:0.0	.	156;213	B7Z7L2;Q15172	.;2A5A_HUMAN	Q	213;213;156	.	ENSP00000261461:R213Q	R	+	2	0	PPP2R5A	210585832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.666000	0.98612	2.573000	0.86826	0.491000	0.48974	CGA		0.323	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		70	297	0	0	0	1	0	70	297					A	212519209	G	A	212519209	3	1	79	1	0	0	0	0	1	0	0	0	12439	1058	37	1	656	1	PPP2R5A	1	212519209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16706	212519209	36731412	1773	12090											
TMEM206	55248	broad.mit.edu	37	chr1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttaaatactcacatcttGgactttctggatgaaaggat	7	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	296						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTCACATCTTGGACTTTCTGG	0.313																																						ENST00000261455.4																			0				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17						c.(886-888)Caa>Taa		transmembrane protein 206							62	62	62					1																	212548540		2203	4300	6503	SO:0001587	stop_gained	55248					integral to membrane		g.chr1:212548540G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.886C>T	1.37:g.212548540G>A	ENSP00000261455:p.Gln296*					TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	p.Q296*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	7	1023	-			296					B7Z4D6|Q6IA87|Q9NV85	Nonsense_Mutation	SNP	ENST00000261455.4	37	c.886C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461568	0.96240	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.67	5.67	0.87782	.	0.137522	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.1204	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	296;357	.	ENSP00000261455:Q296X	Q	-	1	0	TMEM206	210615163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.198000	0.51035	2.836000	0.97738	0.655000	0.94253	CAA		0.313	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		42	288	0	0	0	1	0	42	288					A	212548540	G	A	212548540	4	1	79	1	0	0	0	0	0	1	0	0	16183	1357	47	2	174	2	TMEM206	1	212548540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29331	212548540	36702081	1774	12091											
ATF3	467	broad.mit.edu	37	chr1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaaaggaaaaagaggCgacgagaaagaaataagatt	12	2	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000492118.1_Intron|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	92	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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 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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GAAAAAGAGGCGACGAGAAAG	0.448																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(274-276)Cga>Tga		activating transcription factor 3							136	133	134					1																	212791502		2203	4300	6503	SO:0001587	stop_gained	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212791502C>T	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"basic leucine zipper proteins"	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.274C>T	1.37:g.212791502C>T	ENSP00000344352:p.Arg92*					ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*	p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	3	539	+			92					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Nonsense_Mutation	SNP	ENST00000341491.4	37	c.274C>T	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769942	0.90020	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937	.	.	.	5.51	3.62	0.41486	.	0.103434	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5233	14.2137	0.65779	0.4477:0.5523:0.0:0.0	.	.	.	.	X	92;92;92;35;92;63	.	ENSP00000336908:R63X	R	+	1	2	ATF3	210858125	0.803000	0.28956	1.000000	0.80357	0.644000	0.38419	-0.110000	0.10824	0.779000	0.33543	-1.312000	0.01307	CGA		0.448	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		40	443	0	0	0	1	0	40	443					T	212791502	C	T	212791502	4	4	79	1	0	0	0	0	0	1	0	0	1082	760	27	1	280	1	ATF3	1	212791502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242962	212791502	36459119	1775	12092											
FAM71A	149647	broad.mit.edu	37	chr1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaacaaaggcaacatggCccttgcaggcactgccagca	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	328	Ala-rich.					nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCAACATGGCCCTTGCAGGC	0.617																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(982-984)gCc>gTc		family with sequence similarity 71, member A							45	49	48					1																	212799202		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212799202C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.983C>T	1.37:g.212799202C>T	ENSP00000294829:p.Ala328Val					RP11-338C15.5_ENST00000427949.1_RNA	p.A328V	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1414	+			328			Ala-rich.		Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.983C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422128	0.25639	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04603	3.59	3.47	1.54	0.23209	.	.	.	.	.	T	0.04227	0.0117	L	0.51422	1.61	0.09310	N	1	P	0.39809	0.689	B	0.33254	0.16	T	0.39231	-0.9624	9	0.36615	T	0.2	-4.0201	3.9602	0.09407	0.2355:0.6397:0.0:0.1248	.	328	Q8IYT1	FA71A_HUMAN	V	328;103	ENSP00000294829:A328V	ENSP00000294829:A328V	A	+	2	0	FAM71A	210865825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.087000	0.14958	0.431000	0.26258	0.655000	0.94253	GCC		0.617	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		65	175	0	0	0	1	0	65	175					T	212799202	C	T	212799202	3	4	79	1	0	0	0	0	1	0	0	0	5632	739	26	2	985	2	FAM71A	1	212799202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7700	212799202	36451419	1776	12093											
FLVCR1	28982	broad.mit.edu	37	chr1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatctcttctgggtcaCcatgttgggccagtgcttgt	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	203					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTCTGGGTCACCATGTTGGGC	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(607-609)aCc>aTc		feline leukemia virus subgroup C cellular receptor 1							63	52	56					1																	213032402		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032402C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.608C>T	1.37:g.213032402C>T	ENSP00000355938:p.Thr203Ile						p.T203I	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	806	+			203					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.608C>T	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112425|5.112425	0.94339|0.94339	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.56275	.|0.47	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|P	.|0.53722	.|0.733	T|T	0.62388|0.62388	-0.6865|-0.6865	5|10	.|0.07325	.|T	.|0.83	-10.737|-10.737	18.3846|18.3846	0.90463|0.90463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203	.|Q9Y5Y0	.|FLVC1_HUMAN	S|I	49|203	.|ENSP00000355938:T203I	.|ENSP00000355938:T203I	P|T	+|+	1|2	0|0	FLVCR1|FLVCR1	211099025|211099025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.429000|7.429000	0.80309|0.80309	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		81	232	0	0	0	1	0	81	232					T	213032402	C	T	213032402	3	4	79	1	0	0	0	0	1	0	0	0	5970	507	18	2	610	2	FLVCR1	1	213032402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233200	213032402	36218219	1777	12094											
FLVCR1	28982	broad.mit.edu	37	chr1	213032418	213032418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatgttgggccagtgCttgtgctcggtggcccaggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	208					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGGCCAGTGCTTGTGCTCGG	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(622-624)tgC>tgT		feline leukemia virus subgroup C cellular receptor 1							66	55	58					1																	213032418		2203	4300	6503	SO:0001819	synonymous_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032418C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.624C>T	1.37:g.213032418C>T							p.C208C	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	822	+			208					Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	37	c.624C>T	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632584	0.29068	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	2.5	0.30297	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-19.1226	7.0555	0.25097	0.0:0.5941:0.2596:0.1463	.	.	.	.	V	54	.	.	A	+	2	0	FLVCR1	211099041	0.000000	0.05858	0.974000	0.42286	0.989000	0.77384	-0.401000	0.07232	0.685000	0.31468	0.655000	0.94253	GCT		0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		65	239	0	0	0	1	0	65	239					T	213032418	C	T	213032418	2	4	79	1	0	0	0	0	0	0	0	1	5970	805	28	2		2	FLVCR1	1	213032418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	213032418	36218203	1778	12095											
ANGEL2	90806	broad.mit.edu	37	chr1	213186643	213186643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggagctcgagagtaatgTccaggccacctcatacaact	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(175-177)ggA>ggG		angel homolog 2 (Drosophila)							162	156	158					1																	213186643		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213186643T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.177A>G	1.37:g.213186643T>C						ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	p.G59G	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	331	-			59					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.177A>G	CCDS1512.1																																																																																				0.463	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		74	778	0	0	0	1	0	74	778					C	213186643	T	C	213186643	2	2	79	1	0	0	0	0	0	0	0	1	609	1654	58	4		4	ANGEL2	1	213186643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	154225	213186643	36063978	1779	12096											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgataaaaaattagcactaGcctccaggttttacatccca	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	896	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTAGCACTAGCCTCCAGGTT	0.453																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2686-2688)Gcc>Tcc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							81	85	83					1																	213415505		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415505G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2686G>T	1.37:g.213415505G>T	ENSP00000355927:p.Ala896Ser					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S	p.A896S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2836	+			896			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2686G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904641	0.02453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.91	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.528388	0.23014	N	0.052921	T	0.40322	0.1112	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27640	-1.0068	10	0.10902	T	0.67	-21.3125	6.305	0.21133	0.7318:0.1345:0.1337:0.0	.	684;896;884	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	684;896;884;599	ENSP00000442306:A684S;ENSP00000355927:A896S;ENSP00000355926:A884S;ENSP00000439282:A599S	ENSP00000355926:A884S	A	+	1	0	RPS6KC1	211482128	0.061000	0.20836	0.057000	0.19452	0.939000	0.58152	2.481000	0.45215	0.471000	0.27319	-0.254000	0.11334	GCC		0.453	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		146	372	1	0	1.55947e-51	1	1.93603e-51	146	372					T	213415505	G	T	213415505	3	4	79	1	0	0	0	0	1	0	0	0	13708	971	34	3	2728	3	RPS6KC1	1	213415505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228862	213415505	35835116	1780	12097											
PROX1	5629	broad.mit.edu	37	chr1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgccatgatgccttttCcaggagcaaccataatttcc	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	88					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(262-264)Cca>Tca		prospero homeobox 1							86	83	84					1																	214170140		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170140C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.262C>T	1.37:g.214170140C>T	ENSP00000355925:p.Pro88Ser					PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S|PROX1_ENST00000261454.4_Missense_Mutation_p.P88S	p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	870	+			88					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.262C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671909	0.29693	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B	0.27166	0.17	B	0.34536	0.185	T	0.11470	-1.0586	10	0.20046	T	0.44	-2.4481	20.3627	0.98863	0.0:1.0:0.0:0.0	.	88	Q92786	PROX1_HUMAN	S	88	ENSP00000419517:P88S;ENSP00000420283:P88S;ENSP00000355925:P88S;ENSP00000400694:P88S;ENSP00000261454:P88S	ENSP00000261454:P88S	P	+	1	0	PROX1	212236763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	2.885000	0.99019	0.655000	0.94253	CCA		0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		59	371	0	0	0	1	0	59	371					T	214170140	C	T	214170140	3	4	79	1	0	0	0	0	1	0	0	0	12607	855	30	2	264	2	PROX1	1	214170140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754635	214170140	35080481	1781	12098											
PROX1	5629	broad.mit.edu	37	chr1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcgctcggagatcctggAtgccagggcccaggactctg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	285					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(853-855)gAt>gGt		prospero homeobox 1							65	67	67					1																	214170732		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170732A>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.854A>G	1.37:g.214170732A>G	ENSP00000355925:p.Asp285Gly					PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G|PROX1_ENST00000261454.4_Missense_Mutation_p.D285G	p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1462	+			285					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.854A>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951668	0.18431	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.646468	0.17515	N	0.171458	T	0.42223	0.1193	L	0.43152	1.355	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.21381	-1.0247	10	0.21540	T	0.41	-0.4293	16.0486	0.80740	1.0:0.0:0.0:0.0	.	285	Q92786	PROX1_HUMAN	G	285	ENSP00000420283:D285G;ENSP00000355925:D285G;ENSP00000400694:D285G;ENSP00000261454:D285G	ENSP00000261454:D285G	D	+	2	0	PROX1	212237355	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	7.327000	0.79147	2.183000	0.69458	0.533000	0.62120	GAT		0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		81	247	0	0	0	1	0	81	247					G	214170732	A	G	214170732	3	3	79	1	0	0	0	0	1	0	0	0	12607	333	12	4	856	4	PROX1	1	214170732	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	214170732	35079889	1782	12099											
PROX1	5629	broad.mit.edu	37	chr1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaccccctggacaccTttggcaatgtgcagatggcc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	424					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1270-1272)Ttt>Gtt		prospero homeobox 1							100	101	101					1																	214171148		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171148T>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1270T>G	1.37:g.214171148T>G	ENSP00000355925:p.Phe424Val					PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V|PROX1_ENST00000261454.4_Missense_Mutation_p.F424V	p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1878	+			424					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1270T>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974146	0.53720	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.43	5.43	0.79202	.	0.094831	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.64132	-0.6479	10	0.32370	T	0.25	-2.9139	15.4822	0.75537	0.0:0.0:0.0:1.0	.	424	Q92786	PROX1_HUMAN	V	424	ENSP00000420283:F424V;ENSP00000355925:F424V;ENSP00000400694:F424V;ENSP00000261454:F424V	ENSP00000261454:F424V	F	+	1	0	PROX1	212237771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.060000	0.61445	0.482000	0.46254	TTT		0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		173	560	0	0	0	1	0	173	560					G	214171148	T	G	214171148	3	3	79	1	0	0	0	0	1	0	0	0	12607	1609	56	4	1272	4	PROX1	1	214171148	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	416	214171148	35079473	1783	12100											
SMYD2	56950	broad.mit.edu	37	chr1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatagctgttgccccaAtgtcattgtgacctacaaag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	212	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(634-636)aAt>aCt		SET and MYND domain containing 2							144	138	140					1																	214500997		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214500997A>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.635A>C	1.37:g.214500997A>C	ENSP00000355924:p.Asn212Thr		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	p.N212T	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	7	657	+			212			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.635A>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927365	0.52759	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.90676	-2.71;-2.71	5.84	4.71	0.59529	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.76328	2.33	0.58432	D	0.999998	P;D	0.59357	0.883;0.985	P;P	0.58970	0.718;0.849	D	0.93210	0.6599	10	0.62326	D	0.03	-3.1334	11.9764	0.53094	0.932:0.0:0.068:0.0	.	212;196	Q9NRG4;Q05C86	SMYD2_HUMAN;.	T	212	ENSP00000355924:N212T;ENSP00000388682:N212T	ENSP00000355924:N212T	N	+	2	0	SMYD2	212567620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.838000	0.75359	1.027000	0.39758	0.533000	0.62120	AAT		0.473	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		80	444	0	0	0	1	0	80	444					C	214500997	A	C	214500997	3	2	79	1	0	0	0	0	1	0	0	0	14872	101	4	4	661	4	SMYD2	1	214500997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	329849	214500997	34749624	1784	12101											
SMYD2	56950	broad.mit.edu	37	chr1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtacaggaaatcaagcCgggagaggaggtgagttcat	15	6	2	2	rs140909791	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	232	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	C|||	5	0.000998403	0.0	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0051					ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(694-696)cCg>cTg		SET and MYND domain containing 2							92	92	92					1																	214501057		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214501057C>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.695C>T	1.37:g.214501057C>T	ENSP00000355924:p.Pro232Leu		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	7	717	+			232			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.695C>T	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570763	0.65765	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.82803	-1.65;-1.65	5.64	5.64	0.86602	SET domain (3);	0.048193	0.85682	D	0.000000	D	0.86326	0.5906	L	0.45285	1.41	0.80722	D	1	P;D	0.89917	0.828;1.0	B;P	0.58210	0.177;0.835	D	0.84064	0.0376	10	0.32370	T	0.25	0.2157	19.6851	0.95977	0.0:1.0:0.0:0.0	.	232;216	Q9NRG4;Q05C86	SMYD2_HUMAN;.	L	232	ENSP00000355924:P232L;ENSP00000388682:P232L	ENSP00000355924:P232L	P	+	2	0	SMYD2	212567680	1.000000	0.71417	0.338000	0.25549	0.881000	0.50899	7.449000	0.80643	2.645000	0.89757	0.655000	0.94253	CCG		0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		62	273	0	0	0	1	0	62	273					T	214501057	C	T	214501057	3	4	79	1	0	0	0	0	1	0	0	0	14872	652	23	1	721	1	SMYD2	1	214501057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	214501057	34749564	1785	12102											
PTPN14	5784	broad.mit.edu	37	chr1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttacctcctctgcagtgAccatggcaatcacattcact	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1008	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCTGCAGTGACCATGGCAAT	0.572																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3022-3024)gTc>gCc		protein tyrosine phosphatase, non-receptor type 14							156	138	144					1																	214546067		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214546067A>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3023T>C	1.37:g.214546067A>G	ENSP00000355923:p.Val1008Ala					PTPN14_ENST00000543945.1_3'UTR	p.V1008A	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	16	3217	-			1008			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3023T>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012882	0.75161	.	.	ENSG00000152104	ENST00000366956	T	0.14266	2.52	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.063634	0.64402	D	0.000007	T	0.31136	0.0787	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.01532	-1.1331	10	0.62326	D	0.03	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	1008	Q15678	PTN14_HUMAN	A	1008	ENSP00000355923:V1008A	ENSP00000355923:V1008A	V	-	2	0	PTPN14	212612690	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	GTC		0.572	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		119	555	0	0	0	1	0	119	555					G	214546067	A	G	214546067	3	3	79	1	0	0	0	0	1	0	0	0	12831	275	10	4	556	4	PTPN14	1	214546067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45010	214546067	34704554	1786	12103											
PTPN14	5784	broad.mit.edu	37	chr1	214557227	214557227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtggagcgacttgagCgtcatggcctccatgccccg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	657					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1969-1971)acG>acA		protein tyrosine phosphatase, non-receptor type 14							51	45	47					1																	214557227		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557227C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1971G>A	1.37:g.214557227C>T						PTPN14_ENST00000543945.1_3'UTR	p.T657T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2165	-			657					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.1971G>A	CCDS1514.1																																																																																				0.682	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		41	220	0	0	0	1	0	41	220					T	214557227	C	T	214557227	2	4	79	1	0	0	0	0	0	0	0	1	12831	755	27	1		1	PTPN14	1	214557227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11160	214557227	34693394	1787	12104											
PTPN14	5784	broad.mit.edu	37	chr1	214557310	214557310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtggtgcttggtggCcgtgaggggctcgctcacct	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557310C>T	ENST00000366956.5	-	13	2082	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	630					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCTTGGTGGCCGTGAGGGGC	0.622																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1888-1890)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 14							47	41	43					1																	214557310		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557310C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1888G>A	1.37:g.214557310C>T	ENSP00000355923:p.Ala630Thr					PTPN14_ENST00000543945.1_3'UTR	p.A630T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2082	-			630					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1888G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480577	0.44044	.	.	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.66	4.74	0.60224	.	0.177439	0.49916	D	0.000139	T	0.57695	0.2071	L	0.46157	1.445	0.80722	D	1	B	0.21821	0.061	B	0.24848	0.056	T	0.53201	-0.8472	10	0.30078	T	0.28	.	9.5481	0.39293	0.1429:0.7858:0.0:0.0712	.	630	Q15678	PTN14_HUMAN	T	630	ENSP00000355923:A630T	ENSP00000355923:A630T	A	-	1	0	PTPN14	212623933	0.998000	0.40836	0.987000	0.45799	0.619000	0.37552	3.035000	0.49759	1.367000	0.46095	0.557000	0.71058	GCC		0.622	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	327	0	0	0	1	0	9	327					T	214557310	C	T	214557310	3	4	79	1	0	0	0	0	1	0	0	0	12831	739	26	2	1703	2	PTPN14	1	214557310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	214557310	34693311	1788	12105											
PTPN14	5784	broad.mit.edu	37	chr1	214575046	214575046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctttacagggaagatttcCtgtccaaatccatccaaacg	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214575046C>A	ENST00000366956.5	-	7	845	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAAGATTTCCTGTCCAAATC	0.428																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(649-651)caG>caT		protein tyrosine phosphatase, non-receptor type 14							192	189	190					1																	214575046		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214575046C>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.651G>T	1.37:g.214575046C>A	ENSP00000355923:p.Gln217His					PTPN14_ENST00000543945.1_Intron	p.Q217H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	7	845	-			217			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.651G>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180272	0.78677	.	.	ENSG00000152104	ENST00000366956	T	0.77750	-1.12	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.85252	0.1045	10	0.33940	T	0.23	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	217	Q15678	PTN14_HUMAN	H	217	ENSP00000355923:Q217H	ENSP00000355923:Q217H	Q	-	3	2	PTPN14	212641669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	2.469000	0.83416	0.557000	0.71058	CAG		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		13	825	1	0	0.00244969	1	0.00247089	13	825					A	214575046	C	A	214575046	3	1	79	1	0	0	0	0	1	0	0	0	12831	680	24	3	2964	3	PTPN14	1	214575046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17736	214575046	34675575	1789	12106											
CENPF	1063	broad.mit.edu	37	chr1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaccaagacttgcatgccGaatatgagagcctcagggat	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGCATGCCGAATATGAGAG	0.428																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(2275-2277)Gaa>Aaa		centromere protein F, 350/400kDa							53	54	54					1																	214813956		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813956G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2275G>A	1.37:g.214813956G>A	ENSP00000355922:p.Glu759Lys						p.E759K	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	2443	+			759					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.2275G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000117724	ENST00000366955	T	0.05447	3.44	5.59	3.6	0.41247	.	0.000000	0.38897	N	0.001534	T	0.16981	0.0408	.	.	.	0.26475	N	0.975212	D	0.76494	0.999	P	0.61592	0.891	T	0.01635	-1.1307	9	0.48119	T	0.1	.	11.1868	0.48662	0.0766:0.2134:0.71:0.0	.	759	P49454	CENPF_HUMAN	K	759	ENSP00000355922:E759K	ENSP00000355922:E759K	E	+	1	0	CENPF	212880579	0.726000	0.28059	0.045000	0.18777	0.323000	0.28346	1.106000	0.31098	1.372000	0.46190	-0.192000	0.12808	GAA		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		17	248	0	0	0	1	0	17	248					A	214813956	G	A	214813956	3	1	79	1	0	0	0	0	1	0	0	0	3240	1059	37	1	2317	1	CENPF	1	214813956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238910	214813956	34436665	1790	12107											
CENPF	1063	broad.mit.edu	37	chr1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaagacatgcagtcacaaGaaattagtggccttaaagac	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGTCACAAGAAATTAGTGG	0.413																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3769-3771)Gaa>Taa		centromere protein F, 350/400kDa							49	49	49					1																	214815450		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815450G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3769G>T	1.37:g.214815450G>T	ENSP00000355922:p.Glu1257*						p.E1257*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3937	+			1338					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.3769G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	41	8.554706	0.98861	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	5.16	0.70880	.	0.195742	0.25313	N	0.031574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.3469	0.49565	0.0836:0.0:0.9164:0.0	.	.	.	.	X	1257	.	ENSP00000355922:E1257X	E	+	1	0	CENPF	212882073	0.660000	0.27420	0.877000	0.34402	0.312000	0.27988	2.472000	0.45136	2.414000	0.81942	0.511000	0.50034	GAA		0.413	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		52	297	1	0	4.1673e-28	1	4.84001e-28	52	297					T	214815450	G	T	214815450	4	4	79	1	0	0	0	0	0	1	0	0	3240	943	33	3	3811	3	CENPF	1	214815450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1494	214815450	34435171	1791	12108											
CENPF	1063	broad.mit.edu	37	chr1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttttcttgtgatcaccaGgagttactccagagagtaga	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1950					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGATCACCAGGAGTTACTCC	0.343																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5560-5562)caG>caT		centromere protein F, 350/400kDa							37	40	39					1																	214818475		2202	4299	6501	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818475G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5562G>T	1.37:g.214818475G>T	ENSP00000355922:p.Gln1854His						p.Q1854H	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5730	+			1950					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5562G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183245	0.06340	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.91	0.0819	0.14426	.	1.540600	0.04574	N	0.393769	T	0.05593	0.0147	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.43556	-0.9384	10	0.51188	T	0.08	.	5.1055	0.14781	0.1513:0.1171:0.6118:0.1198	.	1950	P49454	CENPF_HUMAN	H	1854	ENSP00000355922:Q1854H	ENSP00000355922:Q1854H	Q	+	3	2	CENPF	212885098	0.994000	0.37717	0.008000	0.14137	0.207000	0.24258	0.915000	0.28638	0.101000	0.17610	0.609000	0.83330	CAG		0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		56	235	1	0	2.64514e-33	1	3.13428e-33	56	235					T	214818475	G	T	214818475	3	4	79	1	0	0	0	0	1	0	0	0	3240	991	35	3	5608	3	CENPF	1	214818475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3025	214818475	34432146	1792	12109											
CENPF	1063	broad.mit.edu	37	chr1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttactctcttcatttaaaaGtctgttagaagaaaaggagc	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATTTAAAAGTCTGTTAGAA	0.358																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6712-6714)aGt>aAt		centromere protein F, 350/400kDa							61	69	66					1																	214819626		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819626G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6713G>A	1.37:g.214819626G>A	ENSP00000355922:p.Ser2238Asn						p.S2238N	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6881	+			2334			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6713G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285247	0.05605	.	.	ENSG00000117724	ENST00000366955	T	0.38240	1.15	4.69	0.0956	0.14486	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.977676	0.08333	N	0.962002	T	0.11024	0.0269	N	0.01091	-1.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.13108	T	0.6	.	5.9842	0.19423	0.3633:0.1349:0.5019:0.0	.	2334	P49454	CENPF_HUMAN	N	2238	ENSP00000355922:S2238N	ENSP00000355922:S2238N	S	+	2	0	CENPF	212886249	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.053000	0.14184	-0.155000	0.11098	-0.414000	0.06135	AGT		0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		69	374	0	0	0	1	0	69	374					A	214819626	G	A	214819626	3	1	79	1	0	0	0	0	1	0	0	0	3240	1029	36	2	6759	2	CENPF	1	214819626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151	214819626	34430995	1793	12110											
KCTD3	51133	broad.mit.edu	37	chr1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcaggttcaagatgttgttCctataactagttatgacact	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	317					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGTTGTTCCTATAACTAG	0.328																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(949-951)Cct>Act		potassium channel tetramerization domain containing 3							100	93	95					1																	215775224		2203	4299	6502	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215775224C>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.949C>A	1.37:g.215775224C>A	ENSP00000259154:p.Pro317Thr						p.P317T	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	11	1243	+			317					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.949C>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361649	0.82353	.	.	ENSG00000136636	ENST00000259154	T	0.06768	3.26	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;1.0;0.996	D;P;D;P	0.79108	0.964;0.813;0.992;0.885	T	0.00923	-1.1513	10	0.56958	D	0.05	-26.1819	18.4266	0.90611	0.0:1.0:0.0:0.0	.	69;69;317;317	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	317	ENSP00000259154:P317T	ENSP00000259154:P317T	P	+	1	0	KCTD3	213841847	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.487000	0.81328	2.600000	0.87896	0.467000	0.42956	CCT		0.328	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		48	227	1	0	1.21353e-23	1	1.38083e-23	48	227					A	215775224	C	A	215775224	3	1	79	1	0	0	0	0	1	0	0	0	8140	855	30	3	991	3	KCTD3	1	215775224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955598	215775224	33475397	1794	12111											
KCTD3	51133	broad.mit.edu	37	chr1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatgtaatatatctgagaGaaagtctcctggagtagaaa	11	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	709					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATCTGAGAGAAAGTCTCCT	0.383																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2125-2127)aGa>aAa		potassium channel tetramerization domain containing 3							69	75	73					1																	215793638		2203	4297	6500	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793638G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2126G>A	1.37:g.215793638G>A	ENSP00000259154:p.Arg709Lys					KCTD3_ENST00000495537.1_3'UTR	p.R709K	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2420	+			709					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.2126G>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181628	0.21787	.	.	ENSG00000136636	ENST00000259154	T	0.36340	1.26	5.81	4.71	0.59529	.	0.255861	0.42548	D	0.000685	T	0.19725	0.0474	N	0.16307	0.4	0.30987	N	0.721812	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.11179	-1.0598	10	0.10902	T	0.67	-24.209	10.4541	0.44539	0.1984:0.0:0.8016:0.0	.	459;461;707;709	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	K	709	ENSP00000259154:R709K	ENSP00000259154:R709K	R	+	2	0	KCTD3	213860261	0.962000	0.33011	0.952000	0.39060	0.951000	0.60555	1.038000	0.30254	2.750000	0.94351	0.655000	0.94253	AGA		0.383	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		129	379	0	0	0	1	0	129	379					A	215793638	G	A	215793638	3	1	79	1	0	0	0	0	1	0	0	0	8140	942	33	2	2196	2	KCTD3	1	215793638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18414	215793638	33456983	1795	12112											
KCTD3	51133	broad.mit.edu	37	chr1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccaagaaaaggtcatcaGaagatgaaaatgaaaataaa	7	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	744					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGGTCATCAGAAGATGAAAA	0.378																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2230-2232)Gaa>Taa		potassium channel tetramerization domain containing 3							63	68	66					1																	215793742		2198	4297	6495	SO:0001587	stop_gained	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793742G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2230G>T	1.37:g.215793742G>T	ENSP00000259154:p.Glu744*					KCTD3_ENST00000495537.1_3'UTR	p.E744*	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2524	+			744					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	c.2230G>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	41	9.094347	0.99064	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	4.9	0.64082	.	0.468579	0.24403	N	0.038832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.727	14.6228	0.68599	0.0697:0.0:0.9303:0.0	.	.	.	.	X	744	.	ENSP00000259154:E744X	E	+	1	0	KCTD3	213860365	1.000000	0.71417	0.819000	0.32651	0.993000	0.82548	8.169000	0.89672	1.456000	0.47831	0.655000	0.94253	GAA		0.378	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		114	399	1	0	9.42799e-54	1	1.17567e-53	114	399					T	215793742	G	T	215793742	4	4	79	1	0	0	0	0	0	1	0	0	8140	943	33	3	2300	3	KCTD3	1	215793742	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	215793742	33456879	1796	12113											
USH2A	7399	broad.mit.edu	37	chr1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgtttaccaagtccagtaGaggtatcatattggatcaac	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000307340.3	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5014					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTCCAGTAGAGGTATCATA	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15040-15042)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							232	232	232					1																	215812508		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215812508G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15041C>T	1.37:g.215812508G>A	ENSP00000305941:p.Ser5014Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S5014F	p.S5014F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	69	15427	-			5014			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15041C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255912	0.39896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.2	3.2	0.36748	Fibronectin, type III (1);	0.641375	0.12801	U	0.438029	T	0.23330	0.0564	M	0.63428	1.95	0.09310	N	1	D	0.56521	0.976	P	0.48030	0.564	T	0.11792	-1.0573	10	0.48119	T	0.1	.	15.9808	0.80108	0.0:0.3703:0.6297:0.0	.	5014	O75445	USH2A_HUMAN	F	5014	ENSP00000305941:S5014F;ENSP00000355910:S5014F	ENSP00000305941:S5014F	S	-	2	0	USH2A	213879131	0.194000	0.23325	0.015000	0.15790	0.374000	0.29953	2.955000	0.49121	1.176000	0.42840	0.655000	0.94253	TCT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		239	740	0	0	0	1	0	239	740					A	215812508	G	A	215812508	3	1	79	1	0	0	0	0	1	0	0	0	17090	942	33	2	583	2	USH2A	1	215812508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18766	215812508	33438113	1797	12114											
USH2A	7399	broad.mit.edu	37	chr1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactgatccactcggaaGccgtactgcccacctcgttg	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000307340.3	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTCGGAAGCCGTACTGCC	0.542										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14755-14757)gCt>gAt		Usher syndrome 2A (autosomal recessive, mild)							97	79	85					1																	215820899		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820899G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14756C>A	1.37:g.215820899G>T	ENSP00000305941:p.Ala4919Asp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.A4919D	p.A4919D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15142	-			4919			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14756C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468541	0.84533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.62	4.71	0.59529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159701	0.28889	N	0.013817	T	0.71143	0.3305	M	0.82517	2.595	0.54753	D	0.99998	D	0.56968	0.978	D	0.63283	0.913	T	0.72544	-0.4261	10	0.34782	T	0.22	.	14.2275	0.65871	0.0719:0.0:0.9281:0.0	.	4919	O75445	USH2A_HUMAN	D	4919	ENSP00000305941:A4919D;ENSP00000355910:A4919D	ENSP00000305941:A4919D	A	-	2	0	USH2A	213887522	1.000000	0.71417	0.644000	0.29465	0.966000	0.64601	5.161000	0.64935	1.385000	0.46445	0.650000	0.86243	GCT		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	301	1	0	8.00594e-06	1	8.21907e-06	19	301					T	215820899	G	T	215820899	3	4	79	1	0	0	0	0	1	0	0	0	17090	971	34	3	876	3	USH2A	1	215820899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8391	215820899	33429722	1798	12115											
USH2A	7399	broad.mit.edu	37	chr1	215844619	215844619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccagggtggtgcacgcttGaattcgtatttcataccttc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215844619G>A	ENST00000307340.3	-	64	14214	c.13828C>T	c.(13828-13830)Caa>Taa	p.Q4610*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4610*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4610	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCACGCTTGAATTCGTATT	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13828-13830)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							83	82	82					1																	215844619		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844619G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13828C>T	1.37:g.215844619G>A	ENSP00000305941:p.Gln4610*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4610*	p.Q4610*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14214	-			4610			Fibronectin type-III 31.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.13828C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	26.069887	0.99967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.94	4.01	0.46588	.	0.000000	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1318	0.65260	0.0:0.286:0.714:0.0	.	.	.	.	X	4610	.	ENSP00000305941:Q4610X	Q	-	1	0	USH2A	213911242	1.000000	0.71417	0.883000	0.34634	0.818000	0.46254	3.830000	0.55768	1.179000	0.42884	0.650000	0.86243	CAA		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	327	0	0	0	1	0	8	327					A	215844619	G	A	215844619	4	1	79	1	0	0	0	0	0	1	0	0	17090	1299	45	2	1816	2	USH2A	1	215844619	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23720	215844619	33406002	1799	12116											
USH2A	7399	broad.mit.edu	37	chr1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtggcactgacggcccaaaGatctggagggctgacttctg	14	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000307340.3	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4364	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCCCAAAGATCTGGAGGG	0.473										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13090-13092)Ctt>Ttt		Usher syndrome 2A (autosomal recessive, mild)							54	55	55					1																	215848163		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848163G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13090C>T	1.37:g.215848163G>A	ENSP00000305941:p.Leu4364Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L4364F	p.L4364F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13476	-			4364			Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13090C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353439	0.41700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205043	0.23971	U	0.042762	T	0.60104	0.2243	L	0.55990	1.75	0.09310	N	0.999996	D	0.55385	0.971	P	0.62298	0.9	T	0.51865	-0.8651	10	0.22706	T	0.39	.	8.7583	0.34658	0.0795:0.1522:0.7683:0.0	.	4364	O75445	USH2A_HUMAN	F	4364	ENSP00000305941:L4364F;ENSP00000355910:L4364F	ENSP00000305941:L4364F	L	-	1	0	USH2A	213914786	0.956000	0.32656	0.016000	0.15963	0.471000	0.32888	2.023000	0.41040	2.384000	0.81235	0.467000	0.42956	CTT		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		74	275	0	0	0	1	0	74	275					A	215848163	G	A	215848163	3	1	79	1	0	0	0	0	1	0	0	0	17090	942	33	2	2558	2	USH2A	1	215848163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3544	215848163	33402458	1800	12117											
USH2A	7399	broad.mit.edu	37	chr1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttctgtggcttccataGatgctgggcagaggatcctg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000307340.3	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3406	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTTCCATAGATGCTGGGCA	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10216-10218)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							70	65	66					1																	215960182		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960182G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10217C>T	1.37:g.215960182G>A	ENSP00000305941:p.Ser3406Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S3406F	p.S3406F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10603	-			3406			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10217C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664031	0.47572	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17854	2.26;2.25	4.88	3.97	0.46021	Fibronectin, type III (3);	0.508801	0.16482	N	0.212481	T	0.28632	0.0709	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.09079	-1.0691	10	0.87932	D	0	.	11.7406	0.51790	0.0823:0.0:0.9177:0.0	.	3406	O75445	USH2A_HUMAN	F	3406	ENSP00000305941:S3406F;ENSP00000355910:S3406F	ENSP00000305941:S3406F	S	-	2	0	USH2A	214026805	0.296000	0.24398	0.001000	0.08648	0.490000	0.33462	3.445000	0.52921	1.037000	0.40024	-0.126000	0.14955	TCT		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		43	219	0	0	0	1	0	43	219					A	215960182	G	A	215960182	3	1	79	1	0	0	0	0	1	0	0	0	17090	942	33	2	5475	2	USH2A	1	215960182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112019	215960182	33290439	1801	12118											
USH2A	7399	broad.mit.edu	37	chr1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcactgccttgcagaGctcatcactctgatcctgca	6	16	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000307340.3	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3167	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTTGCAGAGCTCATCACTC	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9499-9501)Ctc>Ttc		Usher syndrome 2A (autosomal recessive, mild)							166	152	157					1																	215990410		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990410G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9499C>T	1.37:g.215990410G>A	ENSP00000305941:p.Leu3167Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L3167F	p.L3167F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9885	-			3167			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9499C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595959	0.13875	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.02	0.121	0.14695	Fibronectin, type III (2);	0.468942	0.16745	N	0.201268	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37572	-0.9700	10	0.08837	T	0.75	.	0.8745	0.01221	0.3763:0.2639:0.2076:0.1522	.	3167	O75445	USH2A_HUMAN	F	3167	ENSP00000305941:L3167F;ENSP00000355910:L3167F	ENSP00000305941:L3167F	L	-	1	0	USH2A	214057033	0.000000	0.05858	0.342000	0.25602	0.513000	0.34164	-0.152000	0.10159	0.188000	0.20168	0.561000	0.74099	CTC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	658	0	0	0	1	0	22	658					A	215990410	G	A	215990410	3	1	79	1	0	0	0	0	1	0	0	0	17090	971	34	2	6209	2	USH2A	1	215990410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30228	215990410	33260211	1802	12119											
USH2A	7399	broad.mit.edu	37	chr1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttccattgcttttcaCgcaggcatatattgtgcaga	10	8	1	1	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000307340.3	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGCTTTTCACGCAGGCATAT	0.373										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9286-9288)Gtg>Atg		Usher syndrome 2A (autosomal recessive, mild)		C	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	226	205	212		9286	5	1	1	dbSNP_134	212	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	3096/5203	216011418	4,13002	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011418C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9286G>A	1.37:g.216011418C>T	ENSP00000305941:p.Val3096Met	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3096M	p.V3096M			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9672	-			3096			Fibronectin type-III 17.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9286G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005754	0.54254	9.08E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.67590	0.2909	M	0.70595	2.14	0.41726	D	0.989538	D	0.71674	0.998	P	0.56088	0.791	T	0.71069	-0.4699	10	0.52906	T	0.07	.	17.9566	0.89070	0.0:1.0:0.0:0.0	.	3096	O75445	USH2A_HUMAN	M	3096	ENSP00000305941:V3096M;ENSP00000355910:V3096M	ENSP00000305941:V3096M	V	-	1	0	USH2A	214078041	0.900000	0.30661	0.995000	0.50966	0.284000	0.27059	1.227000	0.32576	2.331000	0.79229	0.655000	0.94253	GTG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		84	526	0	0	0	1	0	84	526					T	216011418	C	T	216011418	3	4	79	1	0	0	0	0	1	0	0	0	17090	536	19	1	6426	1	USH2A	1	216011418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21008	216011418	33239203	1803	12120											
USH2A	7399	broad.mit.edu	37	chr1	216019173	216019173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggactcacccccatcGcaagtggttgcatgaagtcc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000307340.3	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000366943.2_Silent_p.C3016C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3016	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C3016C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCCCCATCGCAAGTGGTTG	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - coding silent(1)	p.C3016C(1)	endometrium(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9046-9048)tgC>tgT		Usher syndrome 2A (autosomal recessive, mild)							77	72	74					1																	216019173		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216019173G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9048C>T	1.37:g.216019173G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.C3016C	p.C3016C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	45	9434	-			3016					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.9048C>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	215	0	0	0	1	0	32	215					A	216019173	G	A	216019173	2	1	79	1	0	0	0	0	0	0	0	1	17090	1079	38	1		1	USH2A	1	216019173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7755	216019173	33231448	1804	12121											
USH2A	7399	broad.mit.edu	37	chr1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgcagtgagattggctcctCtctctggaagaccagctaac	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000307340.3	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGCTCCTCTCTCTGGAAG	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8779-8781)aGa>aTa		Usher syndrome 2A (autosomal recessive, mild)							163	131	142					1																	216040414		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040414C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8780G>T	1.37:g.216040414C>A	ENSP00000305941:p.Arg2927Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R2927I	p.R2927I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9166	-			2927			Fibronectin type-III 16.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8780G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.72	4.71	0.59529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153716	0.30043	N	0.010554	T	0.55465	0.1922	M	0.63428	1.95	0.44555	D	0.997512	D	0.54397	0.966	P	0.58331	0.837	T	0.53415	-0.8442	10	0.38643	T	0.18	.	6.9019	0.24286	0.0:0.8028:0.0:0.1972	.	2927	O75445	USH2A_HUMAN	I	2927	ENSP00000305941:R2927I;ENSP00000355910:R2927I	ENSP00000305941:R2927I	R	-	2	0	USH2A	214107037	0.990000	0.36364	1.000000	0.80357	0.871000	0.50021	0.982000	0.29539	2.711000	0.92665	0.557000	0.71058	AGA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		68	255	1	0	1.17253e-29	1	1.37085e-29	68	255					A	216040414	C	A	216040414	3	1	79	1	0	0	0	0	1	0	0	0	17090	913	32	3	6944	3	USH2A	1	216040414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	216040414	33210207	1805	12122											
USH2A	7399	broad.mit.edu	37	chr1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccggtgcccctgggagtgTccatacagtctgggactctg	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000307340.3	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2619	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGGAGTGTCCATACAGTC	0.502										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7855-7857)Aca>Tca		Usher syndrome 2A (autosomal recessive, mild)							86	85	85					1																	216062136		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062136T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7855A>T	1.37:g.216062136T>A	ENSP00000305941:p.Thr2619Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2619S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8241	-			2619			Fibronectin type-III 12.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7855A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771514	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.65178	-0.14;-0.14	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000477	T	0.81034	0.4739	M	0.86028	2.79	0.51767	D	0.999934	D	0.89917	1.0	D	0.72075	0.976	T	0.82725	-0.0315	10	0.48119	T	0.1	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	2619	O75445	USH2A_HUMAN	S	2619	ENSP00000305941:T2619S;ENSP00000355910:T2619S	ENSP00000305941:T2619S	T	-	1	0	USH2A	214128759	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.442000	0.80503	2.228000	0.72767	0.533000	0.62120	ACA		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		83	245	0	0	0	1	0	83	245					A	216062136	T	A	216062136	3	1	79	1	0	0	0	0	1	0	0	0	17090	1667	58	5	7881	5	USH2A	1	216062136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21722	216062136	33188485	1806	12123											
USH2A	7399	broad.mit.edu	37	chr1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaggattgcatttacctgTgaggttgcttgtattgacaa	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000307340.3	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2016	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTTACCTGTGAGGTTGCTT	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6046-6048)Aca>Gca		Usher syndrome 2A (autosomal recessive, mild)							90	89	89					1																	216243446		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243446T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6046A>G	1.37:g.216243446T>C	ENSP00000305941:p.Thr2016Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2016A	p.T2016A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6432	-			2016			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6046A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532906	0.45073	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58506	0.33;0.33	5.47	-1.0	0.10196	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.761040	0.10938	N	0.617623	T	0.46580	0.1400	M	0.64404	1.975	0.28700	N	0.904138	B	0.28128	0.201	B	0.28232	0.087	T	0.38650	-0.9651	10	0.17369	T	0.5	.	5.0131	0.14322	0.2222:0.1171:0.0:0.6607	.	2016	O75445	USH2A_HUMAN	A	2016	ENSP00000305941:T2016A;ENSP00000355910:T2016A	ENSP00000305941:T2016A	T	-	1	0	USH2A	214310069	0.991000	0.36638	0.014000	0.15608	0.206000	0.24218	1.313000	0.33585	-0.461000	0.06993	-0.479000	0.04858	ACA		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		42	237	0	0	0	1	0	42	237					C	216243446	T	C	216243446	3	2	79	1	0	0	0	0	1	0	0	0	17090	1696	59	4	9734	4	USH2A	1	216243446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181310	216243446	33007175	1807	12124											
USH2A	7399	broad.mit.edu	37	chr1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaggtccatctttgTtataaacgaaaagaagcaat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000307340.3	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.N1758T(1)	lung(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5272-5274)aAc>aCc		Usher syndrome 2A (autosomal recessive, mild)							95	99	97					1																	216256823		2202	4299	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256823T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>C	1.37:g.216256823T>G	ENSP00000305941:p.Asn1758Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.N1758T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5659	-			1758			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5273A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331504	0.60853	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79940	-1.32;-1.32	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	D	0.86732	0.6003	M	0.73598	2.24	0.35285	D	0.781655	D	0.76494	0.999	D	0.69307	0.963	D	0.88206	0.2887	10	0.44086	T	0.13	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	T	1758	ENSP00000305941:N1758T;ENSP00000355910:N1758T	ENSP00000305941:N1758T	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		123	344	0	0	0	1	0	123	344					G	216256823	T	G	216256823	3	3	79	1	0	0	0	0	1	0	0	0	17090	1725	60	4	10523	4	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13377	216256823	32993798	1808	12125											
USH2A	7399	broad.mit.edu	37	chr1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaaaacctttttggaTtatctctgcaggagtttata	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000307340.3	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		I -> T (in dbSNP:rs56222536). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTTTGGATTATCTCTGCA	0.333										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4993-4995)Atc>Ctc		Usher syndrome 2A (autosomal recessive, mild)							62	64	64					1																	216258214		2201	4300	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258214T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4993A>C	1.37:g.216258214T>G	ENSP00000305941:p.Ile1665Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.I1665L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5379	-			1665		I -> T (in dbSNP:rs56222536).	Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4993A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015583	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	4.93	-2.28	0.06826	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.479810	0.17138	N	0.185577	T	0.57799	0.2078	N	0.21097	0.63	0.20764	N	0.999851	B	0.06786	0.001	B	0.10450	0.005	T	0.41680	-0.9495	10	0.32370	T	0.25	.	7.1839	0.25789	0.0:0.3409:0.114:0.5451	.	1665	O75445	USH2A_HUMAN	L	1665	ENSP00000305941:I1665L;ENSP00000355910:I1665L	ENSP00000305941:I1665L	I	-	1	0	USH2A	214324837	0.817000	0.29147	0.322000	0.25334	0.952000	0.60782	0.189000	0.17037	-0.335000	0.08451	0.529000	0.55759	ATC		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		108	292	0	0	0	1	0	108	292					G	216258214	T	G	216258214	3	3	79	1	0	0	0	0	1	0	0	0	17090	1493	52	4	10807	4	USH2A	1	216258214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1391	216258214	32992407	1809	12126											
USH2A	7399	broad.mit.edu	37	chr1	216270488	216270488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaaatactcttcctgAttgccaggtgatgctgcaaa	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000307340.3	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000366943.2_Silent_p.N1565N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCTTCCTGATTGCCAGGTG	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4693-4695)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							80	76	77					1																	216270488		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216270488A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4695T>C	1.37:g.216270488A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N1565N	p.N1565N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	22	5081	-			1565			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4695T>C	CCDS31025.1																																																																																				0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	280	0	0	0	1	0	23	280					G	216270488	A	G	216270488	2	3	79	1	0	0	0	0	0	0	0	1	17090	330	12	4		4	USH2A	1	216270488	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12274	216270488	32980133	1810	12127											
USH2A	7399	broad.mit.edu	37	chr1	216390747	216390747	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttttgctgcaacccaataGattgttgacatccaagtggc	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000307340.3	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1047	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.		L -> V. {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCCAATAGATTGTTGACA	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3139-3141)Cta>Tta		Usher syndrome 2A (autosomal recessive, mild)							106	89	95					1																	216390747		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216390747G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3139C>T	1.37:g.216390747G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	p.L1047L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	15	3525	-			1047		L -> V.	Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.3139C>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		72	221	0	0	0	1	0	72	221					A	216390747	G	A	216390747	2	1	79	1	0	0	0	0	0	0	0	1	17090	933	33	2		2	USH2A	1	216390747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120259	216390747	32859874	1811	12128											
USH2A	7399	broad.mit.edu	37	chr1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttacacgtaccaataAcgtttgctttgcacttgcac	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000307340.3	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000366943.2_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTACCAATAACGTTTGCTTT	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2161-2163)gTt>gGt		Usher syndrome 2A (autosomal recessive, mild)							139	128	132					1																	216424250		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216424250A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2162T>G	1.37:g.216424250A>C	ENSP00000305941:p.Val721Gly	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	p.V721G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	2548	-			721			Laminin EGF-like 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2162T>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108035	0.56291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66815	-0.23;-0.23;-0.23	5.26	4.13	0.48395	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	D	0.87521	0.6198	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.89397	0.3693	10	0.72032	D	0.01	.	10.6956	0.45896	0.9247:0.0:0.0753:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	G	721	ENSP00000305941:V721G;ENSP00000355910:V721G;ENSP00000355909:V721G	ENSP00000305941:V721G	V	-	2	0	USH2A	214490873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	0.850000	0.35239	0.533000	0.62120	GTT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		35	160	0	0	0	1	0	35	160					C	216424250	A	C	216424250	3	2	79	1	0	0	0	0	1	0	0	0	17090	43	2	4	13704	4	USH2A	1	216424250	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33503	216424250	32826371	1812	12129											
USH2A	7399	broad.mit.edu	37	chr1	216465665	216465665	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagcgtaaacttgatcAccttggcggaaaggcttgtc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000307340.3	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	564	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTTGATCACCTTGGCGGA	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1690-1692)ggT>ggG		Usher syndrome 2A (autosomal recessive, mild)							101	94	96					1																	216465665		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465665A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1692T>G	1.37:g.216465665A>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	p.G564G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2078	-			564			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.1692T>G	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		28	366	0	0	0	1	0	28	366					C	216465665	A	C	216465665	2	2	79	1	0	0	0	0	0	0	0	1	17090	146	6	4		4	USH2A	1	216465665	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41415	216465665	32784956	1813	12130											
USH2A	7399	broad.mit.edu	37	chr1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggaaaagacctcgtgActcagtcaaggatattgaag	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000307340.3	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTCGTGACTCAGTCAAG	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(97-99)Tca>Cca		Usher syndrome 2A (autosomal recessive, mild)							76	80	79					1																	216595582		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595582A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.97T>C	1.37:g.216595582A>G	ENSP00000305941:p.Ser33Pro	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	p.S33P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	483	-			33					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.97T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718988	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20598	2.5;2.49;2.06	5.27	2.96	0.34315	.	0.207614	0.23881	N	0.043646	T	0.16471	0.0396	L	0.49640	1.575	0.33847	D	0.632119	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.007	T	0.14144	-1.0483	10	0.28530	T	0.3	.	5.2408	0.15471	0.7218:0.0:0.1465:0.1317	.	33;33	O75445-2;O75445	.;USH2A_HUMAN	P	33	ENSP00000305941:S33P;ENSP00000355910:S33P;ENSP00000355909:S33P	ENSP00000305941:S33P	S	-	1	0	USH2A	214662205	1.000000	0.71417	0.012000	0.15200	0.291000	0.27294	1.496000	0.35638	0.335000	0.23614	0.482000	0.46254	TCA		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		64	295	0	0	0	1	0	64	295					G	216595582	A	G	216595582	3	3	79	1	0	0	0	0	1	0	0	0	17090	275	10	4	15809	4	USH2A	1	216595582	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129917	216595582	32655039	1814	12131											
SPATA17	128153	broad.mit.edu	37	chr1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttttttatcctaggcatTtaaacaggattgtaacaatt	5	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	55	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCTAGGCATTTAAACAGGAT	0.284																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(163-165)Tta>Ata		spermatogenesis associated 17							70	79	76					1																	217824443		2202	4288	6490	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217824443T>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.163T>A	1.37:g.217824443T>A	ENSP00000355900:p.Leu55Ile						p.L55I	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	3	218	+			55			IQ 1.|IQ 2.		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.163T>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401820	0.62288	.	.	ENSG00000162814	ENST00000366933	T	0.73575	-0.76	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.79257	0.4415	L	0.48877	1.53	0.33333	D	0.568893	D	0.89917	1.0	D	0.91635	0.999	T	0.82788	-0.0284	10	0.45353	T	0.12	-6.4751	7.6782	0.28499	0.0:0.097:0.0:0.903	.	55	Q96L03	SPT17_HUMAN	I	55	ENSP00000355900:L55I	ENSP00000355900:L55I	L	+	1	2	SPATA17	215891066	0.993000	0.37304	0.561000	0.28357	0.035000	0.12851	1.911000	0.39937	1.964000	0.57103	0.528000	0.53228	TTA		0.284	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		44	257	0	0	0	1	0	44	257					A	217824443	T	A	217824443	3	1	79	1	0	0	0	0	1	0	0	0	15054	1838	64	5	173	5	SPATA17	1	217824443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1228861	217824443	31426178	1815	12132											
SPATA17	128153	broad.mit.edu	37	chr1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatttgagctcttctcaaAgtatggaaaattatattcaa	5	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	349						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTCTTCTCAAAGTATGGAAAA	0.289																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(1045-1047)aAg>aCg		spermatogenesis associated 17							112	127	122					1																	218036156		2203	4294	6497	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:218036156A>C	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.1046A>C	1.37:g.218036156A>C	ENSP00000355900:p.Lys349Thr					SPATA17_ENST00000471021.1_3'UTR	p.K349T	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	10	1101	+			349					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.1046A>C	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683936	0.47991	.	.	ENSG00000162814	ENST00000366933	T	0.53423	0.62	5.38	3.08	0.35506	.	0.325508	0.26282	N	0.025278	T	0.49729	0.1574	M	0.74881	2.28	0.36585	D	0.873784	D	0.53619	0.961	P	0.46629	0.522	T	0.60880	-0.7175	10	0.72032	D	0.01	-4.4574	7.5057	0.27542	0.8309:0.0:0.1691:0.0	.	349	Q96L03	SPT17_HUMAN	T	349	ENSP00000355900:K349T	ENSP00000355900:K349T	K	+	2	0	SPATA17	216102779	0.989000	0.36119	0.575000	0.28536	0.529000	0.34654	2.795000	0.47861	0.868000	0.35678	0.477000	0.44152	AAG		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		37	631	0	0	0	1	0	37	631					C	218036156	A	C	218036156	3	2	79	1	0	0	0	0	1	0	0	0	15054	72	3	4	1084	4	SPATA17	1	218036156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	211713	218036156	31214465	1816	12133											
TGFB2	7042	broad.mit.edu	37	chr1	218520115	218520115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcagcctgtctacctgCagcacactcgatatggacca	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366930.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_ENST00000366929.4_Silent_p.C24C|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	24					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGTCTACCTGCAGCACACTCG	0.512																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(70-72)tgC>tgT		transforming growth factor, beta 2							88	89	88					1																	218520115		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520115C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.72C>T	1.37:g.218520115C>T						TGFB2_ENST00000366930.4_Silent_p.C24C	p.C24C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	539	+			24					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.72C>T	CCDS1521.1																																																																																				0.512	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		115	397	0	0	0	1	0	115	397					T	218520115	C	T	218520115	2	4	79	1	0	0	0	0	0	0	0	1	15870	718	25	2		2	TGFB2	1	218520115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483959	218520115	30730506	1817	12134											
LYPLAL1	127018	broad.mit.edu	37	chr1	219366593	219366593	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagaacaggatattaataGgtaagacctttaaatgttgg	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	121					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.e3+1		lysophospholipase-like 1							69	68	68					1																	219366593		2203	4299	6502	SO:0001630	splice_region_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219366593G>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+1G>T	1.37:g.219366593G>T						LYPLAL1_ENST00000366927.3_Splice_Site_p.G105_splice|LYPLAL1_ENST00000483635.1_3'UTR	p.G121_splice	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	3	408	+			121					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Splice_Site	SNP	ENST00000366928.5	37	c.361_splice	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568093	0.86439	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	121;105	.	ENSP00000355894:G105X	G	+	1	0	LYPLAL1	217433216	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.780000	0.85658	2.753000	0.94483	0.585000	0.79938	GGA		0.318	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794	Nonsense_Mutation	34	115	1	0	2.20474e-14	1	2.39557e-14	34	115					T	219366593	G	T	219366593	5	4	79	1	0	0	0	0	0	0	1	0	9157	1014	35	3	371	3	LYPLAL1	1	219366593	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846478	219366593	29884028	1818	12135											
SLC30A10	55532	broad.mit.edu	37	chr1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatctgtagcagaatggCagcggtctccttgataagcg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(910-912)Gcc>Acc		solute carrier family 30, member 10							147	150	149					1																	220091645		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091645C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.910G>A	1.37:g.220091645C>T	ENSP00000355893:p.Ala304Thr					SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	p.A304T	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	1071	-			304					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.910G>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377786	0.42105	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63744	-0.06;-0.06	6.01	0.302	0.15786	.	1.253450	0.05112	N	0.489145	T	0.42086	0.1187	N	0.17474	0.49	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.21314	-1.0249	9	.	.	.	-4.4809	3.8409	0.08914	0.46:0.2313:0.0:0.3087	.	304	Q6XR72	ZNT10_HUMAN	T	304;59	ENSP00000355893:A304T;ENSP00000439489:A59T	.	A	-	1	0	SLC30A10	218158268	0.009000	0.17119	0.185000	0.23176	0.988000	0.76386	0.305000	0.19254	0.389000	0.25086	0.585000	0.79938	GCC		0.463	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		113	597	0	0	0	1	0	113	597					T	220091645	C	T	220091645	3	4	79	1	0	0	0	0	1	0	0	0	14604	710	25	2	555	2	SLC30A10	1	220091645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725052	220091645	29158976	1819	12136											
EPRS	2058	broad.mit.edu	37	chr1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcattttcagcaactgTcagcttttctccagtatctc	5	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1391	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCAGCAACTGTCAGCTTTTCT	0.413																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(4171-4173)Aca>Gca		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						163	152	156					1																	220146653		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220146653T>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4171A>G	1.37:g.220146653T>C	ENSP00000355890:p.Thr1391Ala						p.T1391A	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	29	4440	-			1391			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.4171A>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160452	0.78226	.	.	ENSG00000136628	ENST00000366923	D	0.82984	-1.67	5.81	5.81	0.92471	Anticodon-binding (3);	0.048876	0.85682	D	0.000000	D	0.83156	0.5193	L	0.59436	1.845	0.53005	D	0.999969	B	0.31640	0.333	B	0.37091	0.241	T	0.82780	-0.0288	10	0.56958	D	0.05	-14.8289	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1391	P07814	SYEP_HUMAN	A	1391	ENSP00000355890:T1391A	ENSP00000355890:T1391A	T	-	1	0	EPRS	218213276	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	4.732000	0.62029	2.210000	0.71456	0.533000	0.62120	ACA		0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		24	602	0	0	0	1	0	24	602					C	220146653	T	C	220146653	3	2	79	1	0	0	0	0	1	0	0	0	5209	1667	58	4	383	4	EPRS	1	220146653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55008	220146653	29103968	1820	12137											
BPNT1	10380	broad.mit.edu	37	chr1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaattccaataagaactgTtacattgtcaagaagacctg	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(400-402)Aca>Gca		3'(2'), 5'-bisphosphate nucleotidase 1							77	72	74					1																	220240718		1811	4073	5884	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220240718T>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.400A>G	1.37:g.220240718T>C	ENSP00000446828:p.Thr134Ala					BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR	p.T134A			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	7	849	-			134					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.400A>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616325	0.87359	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.984	D	0.90526	0.4492	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	98;134;134	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	A	134;134;134;134;79;98;98;98;79	ENSP00000318852:T134A;ENSP00000446828:T134A;ENSP00000346862:T134A;ENSP00000444398:T79A;ENSP00000410348:T98A;ENSP00000446953:T98A;ENSP00000446850:T98A;ENSP00000448740:T79A	ENSP00000307087:T134A	T	-	1	0	BPNT1	218307341	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.788000	0.85771	2.272000	0.75746	0.460000	0.39030	ACA		0.308	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		47	225	0	0	0	1	0	47	225					C	220240718	T	C	220240718	3	2	79	1	0	0	0	0	1	0	0	0	1498	1725	60	4	542	4	BPNT1	1	220240718	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94065	220240718	29009903	1821	12138											
BPNT1	10380	broad.mit.edu	37	chr1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaggctaccaaccgcatcAacacagtgttactggaagcc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(22-24)tTg>tCg		3'(2'), 5'-bisphosphate nucleotidase 1							99	87	91					1																	220253166		1903	4113	6016	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253166A>G	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.23T>C	1.37:g.220253166A>G	ENSP00000446828:p.Leu8Ser					BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron	p.L8S			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	472	-			8					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.23T>C	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	.	0.145283	0.42172	D	0.000758	D	0.93716	0.7992	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	D	0.94960	0.8107	10	0.87932	D	0	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	S	8	ENSP00000318852:L8S;ENSP00000446828:L8S;ENSP00000346862:L8S;ENSP00000410348:L8S;ENSP00000446953:L8S;ENSP00000446850:L8S;ENSP00000449883:L8S	ENSP00000307087:L8S	L	-	2	0	BPNT1	218319789	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.179000	0.77665	2.112000	0.64535	0.472000	0.43445	TTG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		51	258	0	0	0	1	0	51	258					G	220253166	A	G	220253166	3	3	79	1	0	0	0	0	1	0	0	0	1498	131	5	4	935	4	BPNT1	1	220253166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12448	220253166	28997455	1822	12139											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220384297	220384297	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactcttatttatccttacCtcttttggcttgctagtggg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	145					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e5+1		RAB3 GTPase activating protein subunit 2 (non-catalytic)							95	99	98					1																	220384297		2203	4300	6503	SO:0001630	splice_region_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220384297C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.434+1G>T	1.37:g.220384297C>A							p.R145_splice	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	5	550	-			145					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Splice_Site	SNP	ENST00000358951.2	37	c.434_splice	CCDS31028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675595|4.675595	0.88445|0.88445	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.34859	.|1.34	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.74674	.|0.98;0.984	T|T	0.34104|0.34104	-0.9842|-0.9842	5|9	.|.	.|.	.|.	.|.	18.5392|18.5392	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145	.|Q9H2M9-2;Q9H2M9	.|.;RBGPR_HUMAN	D|M	46|145	.|ENSP00000351832:R145M	.|.	E|R	-|-	3|2	2|0	RAB3GAP2|RAB3GAP2	218450920|218450920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.136000|7.136000	0.77285|0.77285	2.559000|2.559000	0.86315|0.86315	0.460000|0.460000	0.39030|0.39030	GAG|AGG		0.353	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	Missense_Mutation	21	129	1	0	3.62473e-10	1	3.83521e-10	21	129					A	220384297	C	A	220384297	5	1	79	1	0	0	0	0	0	0	1	0	12986	695	24	3	3871	3	RAB3GAP2	1	220384297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131131	220384297	28866324	1823	12140											
MARK1	4139	broad.mit.edu	37	chr1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctagcaaataatgaaagatCgatggatgaatgttggtcat	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000366917.4	+	10	1191	c.925C>T	c.(925-927)Cga>Tga	p.R309*	HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAAGATCGATGGATGAA	0.328																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(520-522)Cga>Tga		MAP/microtubule affinity-regulating kinase 1							108	105	106					1																	220804392		2203	4300	6503	SO:0001587	stop_gained	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220804392C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.925C>T	1.37:g.220804392C>T	ENSP00000355884:p.Arg309*					MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.R309*	p.R174*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	10	1522	+			309			Protein kinase.			Nonsense_Mutation	SNP	ENST00000366917.4	37	c.520C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	44	10.904794	0.99486	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.78	5.78	0.91487	.	0.068862	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	174;287;309	.	ENSP00000355884:R309X	R	+	1	2	MARK1	218871015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CGA		0.328	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			14	289	0	0	0	1	0	14	289					T	220804392	C	T	220804392	4	4	79	1	0	0	0	0	0	1	0	0	9353	876	31	1	963	1	MARK1	1	220804392	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420095	220804392	28446229	1824	12141											
HLX	3142	broad.mit.edu	37	chr1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggttccagaaccggcGgatgaagtggcggcactcca	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGAACCGGCGGATGAAGTGG	0.637																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(982-984)cGg>cAg		H2.0-like homeobox							38	43	41					1																	221057562		2203	4296	6499	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057562G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.983G>A	1.37:g.221057562G>A	ENSP00000355870:p.Arg328Gln					HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	p.R328Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2484	+			328					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.983G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825551	0.96996	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99298	-5.48;-5.71;-5.48	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99641	0.9868	H	0.97103	3.94	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-26.9734	17.218	0.86949	0.0:0.0:1.0:0.0	.	328	Q14774	HLX_HUMAN	Q	328;61;114	ENSP00000355870:R328Q;ENSP00000408248:R61Q;ENSP00000449882:R114Q	ENSP00000355870:R328Q	R	+	2	0	HLX	219124185	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.358000	0.97109	2.443000	0.82685	0.561000	0.74099	CGG		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		68	197	0	0	0	1	0	68	197					A	221057562	G	A	221057562	3	1	79	1	0	0	0	0	1	0	0	0	7246	1116	39	1	997	1	HLX	1	221057562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253170	221057562	28193059	1825	12142											
DUSP10	11221	broad.mit.edu	37	chr1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaagtaagcgatgaCgatggtggcggagcgggaca	15	8	2	1	rs116590328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	419	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20327	0.0		0.001	False		,,,				2504	0.0					ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1255-1257)Gtc>Atc		dual specificity phosphatase 10							131	120	124					1																	221875948		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221875948C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1255G>A	1.37:g.221875948C>T	ENSP00000355866:p.Val419Ile					DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR	p.V419I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1493	-			419			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1255G>A	CCDS1528.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639782	0.87760	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.62232	0.04;0.04;0.04	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.48877	1.53	0.80722	D	1	P	0.50066	0.931	B	0.38921	0.285	T	0.65138	-0.6241	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	419	Q9Y6W6	DUS10_HUMAN	I	419;364;77;77	ENSP00000355866:V419I;ENSP00000322015:V77I;ENSP00000441302:V77I	ENSP00000322015:V77I	V	-	1	0	DUSP10	219942571	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GTC		0.488	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		42	515	0	0	0	1	0	42	515					T	221875948	C	T	221875948	3	4	79	1	0	0	0	0	1	0	0	0	4826	536	19	1	197	1	DUSP10	1	221875948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	818386	221875948	27374673	1826	12143											
DUSP10	11221	broad.mit.edu	37	chr1	221913078	221913078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgtcgtctaaaggagaCggaggcatgaggaggctgaa	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483																																						ENST00000366899.3																			1	Substitution - coding silent(1)	p.P3P(1)	lung(1)	NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(7-9)ccG>ccA		dual specificity phosphatase 10							65	64	64					1																	221913078		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221913078C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.9G>A	1.37:g.221913078C>T						DUSP10_ENST00000323825.3_Intron	p.P3P	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	247	-			3					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.9G>A	CCDS1528.1																																																																																				0.483	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		29	355	0	0	0	1	0	29	355					T	221913078	C	T	221913078	2	4	79	1	0	0	0	0	0	0	0	1	4826	523	19	1		1	DUSP10	1	221913078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37130	221913078	27337543	1827	12144											
HHIPL2	79802	broad.mit.edu	37	chr1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggattgtccgaggggactCggtaccgcttgccatgtgag	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGAGGGGACTCGGTACCGCTT	0.542																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1186-1188)cGa>cAa		HHIP-like 2							73	69	71					1																	222713615		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713615C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1187G>A	1.37:g.222713615C>T	ENSP00000342118:p.Arg396Gln						p.R396Q	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1245	-			396					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1187G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751619	0.31046	.	.	ENSG00000143512	ENST00000343410	T	0.11495	2.77	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.11024	0.0269	L	0.58669	1.825	0.34984	D	0.754342	P	0.35959	0.53	B	0.31101	0.124	T	0.21143	-1.0254	10	0.23302	T	0.38	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	Q	396	ENSP00000342118:R396Q	ENSP00000342118:R396Q	R	-	2	0	HHIPL2	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA		0.542	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		128	363	0	0	0	1	0	128	363					T	222713615	C	T	222713615	3	4	79	1	0	0	0	0	1	0	0	0	7124	884	31	1	1011	1	HHIPL2	1	222713615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800537	222713615	26537006	1828	12145											
HHIPL2	79802	broad.mit.edu	37	chr1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggcccaacaagaatAtgaggcagaggcagagaatg	12	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	30					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAACAAGAATATGAGGCAGAG	0.592																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(88-90)aTa>aCa		HHIP-like 2							40	46	44					1																	222721298		1920	4125	6045	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721298A>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.89T>C	1.37:g.222721298A>G	ENSP00000342118:p.Ile30Thr						p.I30T	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	147	-			30					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.89T>C	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708145	0.15239	.	.	ENSG00000143512	ENST00000343410	T	0.18960	2.18	4.79	-2.02	0.07388	.	1.115640	0.06652	N	0.762871	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.10111	T	0.7	1.0583	8.3151	0.32095	0.7117:0.0:0.2883:0.0	.	30	Q6UWX4	HIPL2_HUMAN	T	30	ENSP00000342118:I30T	ENSP00000342118:I30T	I	-	2	0	HHIPL2	220787921	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.261000	0.08694	-0.186000	0.10533	-0.337000	0.08149	ATA		0.592	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		50	222	0	0	0	1	0	50	222					G	222721298	A	G	222721298	3	3	79	1	0	0	0	0	1	0	0	0	7124	449	16	4	2121	4	HHIPL2	1	222721298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7683	222721298	26529323	1829	12146											
TAF1A	9015	broad.mit.edu	37	chr1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatcagagtcttggatttAcaatactgtattttttcaca	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000352967.4	-	11	1525	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A|TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	446					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308																																						ENST00000350027.4																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(1336-1338)gTa>gCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							72	74	73					1																	222732018		2201	4280	6481	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222732018A>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1337T>C	1.37:g.222732018A>G	ENSP00000327072:p.Val446Ala					TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000352967.4_Missense_Mutation_p.V446A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	p.V446A	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	11	1490	-			446					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.1337T>C	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	A	7.948	0.744260	0.15710	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T	0.56444	0.46;0.46	5.34	3.01	0.34805	.	0.556195	0.17612	N	0.168045	T	0.40067	0.1102	L	0.41824	1.3	0.54753	D	0.999988	B	0.10296	0.003	B	0.11329	0.006	T	0.13872	-1.0493	10	0.35671	T	0.21	-3.4905	7.0501	0.25069	0.8182:0.0:0.1818:0.0	.	446	Q15573	TAF1A_HUMAN	A	332;446;446;332	ENSP00000339976:V446A;ENSP00000327072:V446A	ENSP00000339976:V446A	V	-	2	0	TAF1A	220798641	0.997000	0.39634	0.602000	0.28890	0.033000	0.12548	1.436000	0.34980	0.426000	0.26116	0.533000	0.62120	GTA		0.308	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		38	184	0	0	0	1	0	38	184					G	222732018	A	G	222732018	3	3	79	1	0	0	0	0	1	0	0	0	15571	391	14	4	19	4	TAF1A	1	222732018	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10720	222732018	26518603	1830	12147											
MIA3	375056	broad.mit.edu	37	chr1	222818937	222818937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcagcctgggcctgaTttttatggactgccatggaa	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	ENST00000344922.5	+	7	3544	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1173					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGGGCCTGATTTTTATGGAC	0.378																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3517-3519)gaT>gaC		melanoma inhibitory activity family, member 3							222	194	203					1																	222818937		1893	4107	6000	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222818937T>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3519T>C	1.37:g.222818937T>C						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000470521.1_3'UTR	p.D1173D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	7	3544	+			1173					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.3519T>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260406	0.23051	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.99	0.951	0.19579	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	.	6.0638	0.19852	0.0:0.2641:0.1497:0.5862	.	.	.	.	L	756	.	.	F	+	1	0	MIA3	220885560	0.992000	0.36948	0.723000	0.30687	0.984000	0.73092	0.092000	0.15066	-0.089000	0.12484	0.482000	0.46254	TTT		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		48	97	0	0	0	1	0	48	97					C	222818937	T	C	222818937	2	2	79	1	0	0	0	0	0	0	0	1	9606	1490	52	4		4	MIA3	1	222818937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86919	222818937	26431684	1831	12148											
C1orf58	148362	broad.mit.edu	37	chr1	222898889	222898889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattcaatgtcaggctgaagCtcaagaaggtatcctaaata	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222898889C>A	ENST00000340934.5	+	7	978	c.572C>A	c.(571-573)gCt>gAt	p.A191D	BROX_ENST00000537020.1_Missense_Mutation_p.A191D|BROX_ENST00000539697.1_Missense_Mutation_p.A159D	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	191	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						CAGGCTGAAGCTCAAGAAGGT	0.358																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(571-573)gCt>gAt		BRO1 domain and CAAX motif containing							87	85	86					1																	222898889		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222898889C>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"BRO1 domain containing protein"		"chromosome 1 open reading frame 58"	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.572C>A	1.37:g.222898889C>A	ENSP00000343742:p.Ala191Asp					BROX_ENST00000537020.1_Missense_Mutation_p.A191D|BROX_ENST00000539697.1_Missense_Mutation_p.A159D	p.A191D	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			7	978	+			191			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.572C>A	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	32	5.126259	0.94429	.	.	ENSG00000162819	ENST00000340934;ENST00000426638;ENST00000537020;ENST00000539697	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.54	5.54	0.83059	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80197	-0.1482	10	0.87932	D	0	-16.3568	19.8472	0.96713	0.0:1.0:0.0:0.0	.	191;159;191	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	D	191;191;191;159	ENSP00000343742:A191D;ENSP00000398862:A191D;ENSP00000440041:A191D;ENSP00000441080:A159D	ENSP00000343742:A191D	A	+	2	0	BROX	220965512	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.768000	0.95171	0.650000	0.86243	GCT		0.358	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		9	295	1	0	3.09899e-07	1	3.21319e-07	9	295					A	222898889	C	A	222898889	3	1	79	1	0	0	0	0	1	0	0	0	2057	797	28	3	594	3	C1orf58	1	222898889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79952	222898889	26351732	1832	12149											
C1orf58	148362	broad.mit.edu	37	chr1	222904766	222904766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaattatggtctcgtagagCctatacctttcgaatttcct	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222904766C>A	ENST00000340934.5	+	12	1463	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P321T	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	353	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCTCGTAGAGCCTATACCTTT	0.388																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(1057-1059)Cct>Act		BRO1 domain and CAAX motif containing							104	107	106					1																	222904766		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222904766C>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"BRO1 domain containing protein"		"chromosome 1 open reading frame 58"	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.1057C>A	1.37:g.222904766C>A	ENSP00000343742:p.Pro353Thr					BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P321T	p.P353T	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			12	1463	+			353			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.1057C>A	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.891619	0.91889	.	.	ENSG00000162819	ENST00000340934;ENST00000539697	T;T	0.17528	2.27;2.27	5.48	5.48	0.80851	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.47923	-0.9079	10	0.54805	T	0.06	-16.8197	19.7157	0.96119	0.0:1.0:0.0:0.0	.	321;353	B7Z9G5;Q5VW32	.;BROX_HUMAN	T	353;321	ENSP00000343742:P353T;ENSP00000441080:P321T	ENSP00000343742:P353T	P	+	1	0	BROX	220971389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.053000	0.76641	2.749000	0.94314	0.655000	0.94253	CCT		0.388	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		142	406	1	0	2.79522e-57	1	3.50091e-57	142	406					A	222904766	C	A	222904766	3	1	79	1	0	0	0	0	1	0	0	0	2057	739	26	3	1099	3	C1orf58	1	222904766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5877	222904766	26345855	1833	12150											
DISP1	84976	broad.mit.edu	37	chr1	223176548	223176548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagcatcaccttgcagcaCgctgccctctccatgttcgt	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	603	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTTGCAGCACGCTGCCCTCT	0.448																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1807-1809)caC>caT		dispatched homolog 1 (Drosophila)							162	147	152					1																	223176548		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176548C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1809C>T	1.37:g.223176548C>T							p.H603H	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1973	+			603			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.1809C>T	CCDS1536.1																																																																																				0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		55	514	0	0	0	1	0	55	514					T	223176548	C	T	223176548	2	4	79	1	0	0	0	0	0	0	0	1	4555	535	19	1		1	DISP1	1	223176548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271782	223176548	26074073	1834	12151											
DISP1	84976	broad.mit.edu	37	chr1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaaaacggcgtggcacctCtgaaggccacacaccaagct	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1315					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3943-3945)Ctg>Atg		dispatched homolog 1 (Drosophila)							83	75	78					1																	223178682		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178682C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3943C>A	1.37:g.223178682C>A	ENSP00000284476:p.Leu1315Met						p.L1315M	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4107	+			1315					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3943C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894442	0.17613	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.7	4.79	0.61399	.	0.600559	0.16431	N	0.214719	D	0.88224	0.6379	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.35353	0.201	T	0.80578	-0.1320	10	0.42905	T	0.14	-5.5401	9.0276	0.36239	0.155:0.7684:0.0:0.0766	.	1315	Q96F81	DISP1_HUMAN	M	1315	ENSP00000284476:L1315M	ENSP00000284476:L1315M	L	+	1	2	DISP1	221245305	0.074000	0.21230	0.148000	0.22405	0.349000	0.29174	0.348000	0.20031	1.410000	0.46936	-0.140000	0.14226	CTG		0.592	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		73	384	1	0	1.58458e-29	1	1.85199e-29	73	384					A	223178682	C	A	223178682	3	1	79	1	0	0	0	0	1	0	0	0	4555	912	32	3	3969	3	DISP1	1	223178682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2134	223178682	26071939	1835	12152											
DISP1	84976	broad.mit.edu	37	chr1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggatcgttactcaaaaCgtgttgcgaccccgagaata	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1405					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1405M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTACTCAAAACGTGTTGCGAC	0.468																																						ENST00000284476.6																			1	Substitution - Missense(1)	p.T1405M(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4213-4215)aCg>aTg		dispatched homolog 1 (Drosophila)							75	77	77					1																	223178953		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178953C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4214C>T	1.37:g.223178953C>T	ENSP00000284476:p.Thr1405Met						p.T1405M	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4378	+			1405					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4214C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242354	0.22796	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.95	3.07	0.35406	.	0.792616	0.12004	N	0.508572	T	0.79747	0.4499	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.24974	0.057	T	0.69405	-0.5154	10	0.59425	D	0.04	-8.4933	3.9118	0.09207	0.1214:0.5099:0.2353:0.1335	.	1405	Q96F81	DISP1_HUMAN	M	1405	ENSP00000284476:T1405M	ENSP00000284476:T1405M	T	+	2	0	DISP1	221245576	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.189000	0.17037	0.415000	0.25817	-0.119000	0.15052	ACG		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	360	0	0	0	1	0	10	360					T	223178953	C	T	223178953	3	4	79	1	0	0	0	0	1	0	0	0	4555	536	19	1	4240	1	DISP1	1	223178953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	223178953	26071668	1836	12153											
TLR5	7100	broad.mit.edu	37	chr1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcacaagacaaacgAtctttctactgttccagatg	7	11	4	2	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGACAAACGATCTTTCTACT	0.473																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2260-2262)aTc>aGc		toll-like receptor 5							93	84	87					1																	223284113		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284113A>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2261T>G	1.37:g.223284113A>C	ENSP00000440643:p.Ile754Ser					TLR5_ENST00000342210.6_Missense_Mutation_p.I754S	p.I754S			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2722	-			754		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2261T>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229929	0.22542	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.02446	4.29;4.29;4.29	5.81	0.124	0.14714	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.406828	0.23030	N	0.052754	T	0.02649	0.0080	N	0.21282	0.65	0.09310	N	0.999992	B	0.14438	0.01	B	0.25987	0.065	T	0.41734	-0.9492	10	0.72032	D	0.01	.	10.65	0.45642	0.2819:0.0:0.7181:0.0	.	754	O60602	TLR5_HUMAN	S	754	ENSP00000440643:I754S;ENSP00000355846:I754S;ENSP00000340089:I754S	ENSP00000340089:I754S	I	-	2	0	TLR5	221350736	0.990000	0.36364	0.000000	0.03702	0.361000	0.29550	2.851000	0.48302	0.028000	0.15324	-0.280000	0.10049	ATC		0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		66	239	0	0	0	1	0	66	239					C	223284113	A	C	223284113	3	2	79	1	0	0	0	0	1	0	0	0	16006	333	12	4	319	4	TLR5	1	223284113	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105160	223284113	25966508	1837	12154											
TLR5	7100	broad.mit.edu	37	chr1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtaaagttcccccagaaGgttatatgacaaattgagaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5	347					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCCCCAGAAGGTTATATGAC	0.363																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1039-1041)Ctt>Att		toll-like receptor 5							96	96	96					1																	223285335		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285335G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1039C>A	1.37:g.223285335G>T	ENSP00000440643:p.Leu347Ile					TLR5_ENST00000342210.6_Missense_Mutation_p.L347I	p.L347I			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1500	-			347					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1039C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734583	0.69189	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57907	0.37;0.37;0.37	5.4	5.4	0.78164	.	0.068294	0.64402	D	0.000019	T	0.64972	0.2647	L	0.48260	1.515	0.58432	D	0.999991	D	0.76494	0.999	D	0.83275	0.996	T	0.65496	-0.6154	10	0.56958	D	0.05	.	12.5837	0.56406	0.076:0.0:0.9239:0.0	.	347	O60602	TLR5_HUMAN	I	347	ENSP00000440643:L347I;ENSP00000355846:L347I;ENSP00000340089:L347I	ENSP00000340089:L347I	L	-	1	0	TLR5	221351958	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	5.120000	0.64685	2.537000	0.85549	0.644000	0.83932	CTT		0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		102	531	1	0	5.25376e-55	1	6.56284e-55	102	531					T	223285335	G	T	223285335	3	4	79	1	0	0	0	0	1	0	0	0	16006	1000	35	3	1541	3	TLR5	1	223285335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	223285335	25965286	1838	12155											
SUSD4	55061	broad.mit.edu	37	chr1	223408411	223408411	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgatgtgtgggaaataAaggacagggaaaagatgttc	13	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223408411A>C	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Silent_p.L252L|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTGGGAAATAAAGGACAGGGA	0.403																																						ENST00000344029.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(754-756)ctT>ctG		sushi domain containing 4							96	89	91					1																	223408411		2203	4300	6503	SO:0001627	intron_variant	55061					integral to membrane		g.chr1:223408411A>C	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5681T>G	1.37:g.223408411A>C						SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000366878.4_Intron	p.L252L	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	6	901	-			0			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.756T>G	CCDS41471.1																																																																																				0.403	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		70	224	0	0	0	1	0	70	224					C	223408411	A	C	223408411	1	2	79	0	1	0	0	0	0	0	0	0	15462	1	1	4		4	SUSD4	1	223408411	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123076	223408411	25842210	1839	12156											
SUSD4	55061	broad.mit.edu	37	chr1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttgttatgaatctcaGcatcttcgatttgagggata	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGAATCTCAGCATCTTCGAT	0.388																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(388-390)gCt>gTt		sushi domain containing 4							192	165	174					1																	223441990		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223441990G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.389C>T	1.37:g.223441990G>A	ENSP00000344219:p.Ala130Val					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V	p.A130V			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	3	1022	-			130			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.389C>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966494	0.92855	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.66995	-0.24;-0.24;-0.24	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000205	T	0.76659	0.4018	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.993;0.987;0.999	T	0.76260	-0.3024	10	0.54805	T	0.06	-17.2517	19.2811	0.94053	0.0:0.0:1.0:0.0	.	59;130;130	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	V	130;130;59;130;130	ENSP00000344219:A130V;ENSP00000355843:A130V;ENSP00000339926:A130V	ENSP00000271787:A130V	A	-	2	0	SUSD4	221508613	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.463000	0.80869	2.802000	0.96397	0.650000	0.86243	GCT		0.388	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		111	366	0	0	0	1	0	111	366					A	223441990	G	A	223441990	3	1	79	1	0	0	0	0	1	0	0	0	15462	971	34	2	1260	2	SUSD4	1	223441990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33579	223441990	25808631	1840	12157											
SUSD4	55061	broad.mit.edu	37	chr1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggcagtgaaatcgggCtacagagccttcaaagaaaa	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAAATCGGGCTACAGAGCCT	0.512																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(241-243)Gcc>Tcc		sushi domain containing 4							92	100	97					1																	223465901		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465901C>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.241G>T	1.37:g.223465901C>A	ENSP00000344219:p.Ala81Ser					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S	p.A81S			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	874	-			81			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.241G>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831577	0.50845	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	-1.69	0.08186	Complement control module (2);Sushi/SCR/CCP (3);	0.782085	0.11216	N	0.587210	T	0.51736	0.1692	L	0.56280	1.765	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15484	0.003;0.013	T	0.46048	-0.9219	10	0.87932	D	0	-9.9019	6.24	0.20785	0.1737:0.5783:0.0:0.248	.	81;81	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	S	81	ENSP00000344219:A81S;ENSP00000355843:A81S;ENSP00000339926:A81S	ENSP00000271787:A81S	A	-	1	0	SUSD4	221532524	0.949000	0.32298	0.931000	0.37212	0.952000	0.60782	0.340000	0.19892	-0.230000	0.09840	-0.340000	0.08031	GCC		0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		224	536	1	0	4.5518e-99	1	5.85322e-99	224	536					A	223465901	C	A	223465901	3	1	79	1	0	0	0	0	1	0	0	0	15462	797	28	3	1412	3	SUSD4	1	223465901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23911	223465901	25784720	1841	12158											
C1orf65	164127	broad.mit.edu	37	chr1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggccctggtgctgacccgtCtcaagaaggcccagaggata	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(799-801)Ctc>Ttc		chromosome 1 open reading frame 65							26	26	26					1																	223567616		2202	4300	6502	SO:0001583	missense	164127							g.chr1:223567616C>T																												ENST00000366875.3:c.799C>T	1.37:g.223567616C>T	ENSP00000355840:p.Leu267Phe						p.L267F	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	902	+			267					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.799C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310041	0.23821	.	.	ENSG00000178395	ENST00000366875	T	0.26223	1.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.43456	0.1248	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.21724	-1.0237	9	0.38643	T	0.18	.	9.0497	0.36369	0.0:0.8993:0.0:0.1007	.	267	Q8N715	CA065_HUMAN	F	267	ENSP00000355840:L267F	ENSP00000355840:L267F	L	+	1	0	C1orf65	221634239	1.000000	0.71417	0.429000	0.26710	0.146000	0.21551	2.764000	0.47613	2.161000	0.67846	0.650000	0.86243	CTC		0.632	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			39	144	0	0	0	1	0	39	144					T	223567616	C	T	223567616	3	4	79	1	0	0	0	0	1	0	0	0	2062	913	32	2	801	2	C1orf65	1	223567616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101715	223567616	25683005	1842	12159											
TP53BP2	7159	broad.mit.edu	37	chr1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgatttcaggcgggCgcatgctcaccgagtcttct	13	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000343537.7	-	13	2978	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R767H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	890	Mediates interaction with APC2.|Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2299-2301)cGc>cAc		tumor protein p53 binding protein, 2							55	61	59					1																	223983554		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983554C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2687G>A	1.37:g.223983554C>T	ENSP00000341957:p.Arg896His					TP53BP2_ENST00000343537.7_Missense_Mutation_p.R896H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000498843.1_5'UTR	p.R767H	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	14	3068	-			890					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2300G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606642	0.66558	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.50548	0.83;1.0;0.74	5.37	4.46	0.54185	Src homology-3 domain (1);	0.268229	0.43260	N	0.000590	T	0.46308	0.1386	L	0.48362	1.52	0.47584	D	0.999461	P;P	0.50943	0.94;0.94	P;P	0.45639	0.488;0.488	T	0.43956	-0.9359	10	0.44086	T	0.13	.	13.9612	0.64180	0.0:0.9267:0.0:0.0733	.	896;890	B4DG66;Q13625	.;ASPP2_HUMAN	H	767;896;129	ENSP00000375750:R767H;ENSP00000341957:R896H;ENSP00000375751:R129H	ENSP00000341957:R896H	R	-	2	0	TP53BP2	222050177	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.469000	0.53093	1.272000	0.44329	0.563000	0.77884	CGC		0.537	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		93	356	0	0	0	1	0	93	356					T	223983554	C	T	223983554	3	4	79	1	0	0	0	0	1	0	0	0	16437	768	27	1	741	1	TP53BP2	1	223983554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415938	223983554	25267067	1843	12160											
DEGS1	8560	broad.mit.edu	37	chr1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaagtactgtatgatttTgtgatggatgatacaataag	9	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	300					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(898-900)ttT>ttG		delta(4)-desaturase, sphingolipid 1							87	80	82					1																	224380108		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224380108T>G	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.900T>G	1.37:g.224380108T>G	ENSP00000316476:p.Phe300Leu					DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	3	1066	+	Breast(184;0.193)		300						Missense_Mutation	SNP	ENST00000323699.4	37	c.900T>G	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429825	0.83776	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.55234	0.53;0.53	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76793	-0.2828	9	.	.	.	.	7.8847	0.29642	0.0:0.2314:0.0:0.7686	.	300	O15121	DEGS1_HUMAN	L	300	ENSP00000316476:F300L;ENSP00000375749:F300L	.	F	+	3	2	DEGS1	222446731	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.652000	0.24888	1.038000	0.40049	0.459000	0.35465	TTT		0.388	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			78	164	0	0	0	1	0	78	164					G	224380108	T	G	224380108	3	3	79	1	0	0	0	0	1	0	0	0	4438	1809	63	4	910	4	DEGS1	1	224380108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396554	224380108	24870513	1844	12161											
WDR26	80232	broad.mit.edu	37	chr1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgctgcgtataacatgGgaactgcctcctaaaacaaa	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.P197S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	344						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(1030-1032)Cca>Tca		WD repeat domain 26							114	106	108					1																	224599257		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224599257G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1030C>T	1.37:g.224599257G>A	ENSP00000408108:p.Pro344Ser					WDR26_ENST00000295024.6_Missense_Mutation_p.P197S|WDR26_ENST00000366852.2_3'UTR	p.P344S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	7	1223	-			344					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1030C>T	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88197	0.2881	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	328	Q9H7D7-2	.	S	344;197	ENSP00000408108:P344S;ENSP00000295024:P197S	ENSP00000295024:P197S	P	-	1	0	WDR26	222665880	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.695000	0.91970	0.563000	0.77884	CCA		0.333	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		33	277	0	0	0	1	0	33	277					A	224599257	G	A	224599257	3	1	79	1	0	0	0	0	1	0	0	0	17337	1232	43	2	987	2	WDR26	1	224599257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219149	224599257	24651364	1845	12162											
WDR26	80232	broad.mit.edu	37	chr1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccacaatagcatgaggagAatgcactaaaggctttagtt	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GCATGAGGAGAATGCACTAAA	0.338																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(562-564)Tct>Gct		WD repeat domain 26							76	73	74					1																	224619244		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224619244A>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.562T>G	1.37:g.224619244A>C	ENSP00000408108:p.Ser188Ala					WDR26_ENST00000295024.6_Missense_Mutation_p.S41A|WDR26_ENST00000366852.2_Missense_Mutation_p.S188A	p.S188A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	3	755	-			188			CTLH.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.562T>G	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943220	0.73672	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.59	5.59	0.84812	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77103	2.36	0.50632	D	0.999889	B;B	0.29188	0.185;0.236	B;B	0.23716	0.032;0.048	T	0.64407	-0.6415	10	0.23302	T	0.38	.	15.7686	0.78146	1.0:0.0:0.0:0.0	.	188;188	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	188;41;188;41	ENSP00000408108:S188A;ENSP00000295024:S41A	ENSP00000295024:S41A	S	-	1	0	WDR26	222685867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.122000	0.65172	0.460000	0.39030	TCT		0.338	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		12	172	0	0	0	1	0	12	172					C	224619244	A	C	224619244	3	2	79	1	0	0	0	0	1	0	0	0	17337	246	9	4	1471	4	WDR26	1	224619244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19987	224619244	24631377	1846	12163											
LBR	3930	broad.mit.edu	37	chr1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacagtggtactcgtcacGagcttctcggtggacaagca	11	11	2	0	rs199675363		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1756-1758)Cgt>Tgt		lamin B receptor							98	96	97					1																	225591097		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591097G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1756C>T	1.37:g.225591097G>A	ENSP00000339883:p.Arg586Cys					LBR_ENST00000272163.4_Missense_Mutation_p.R586C	p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1881	-	Breast(184;0.165)		586					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1756C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760754	0.89932	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99259	-5.64;-5.64	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	-21.4596	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	586	Q14739	LBR_HUMAN	C	586	ENSP00000272163:R586C;ENSP00000339883:R586C	ENSP00000272163:R586C	R	-	1	0	LBR	223657720	1.000000	0.71417	0.263000	0.24496	0.792000	0.44763	7.718000	0.84743	2.937000	0.99478	0.650000	0.86243	CGT		0.403	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		96	284	0	0	0	1	0	96	284					A	225591097	G	A	225591097	3	1	79	1	0	0	0	0	1	0	0	0	8683	1058	37	1	95	1	LBR	1	225591097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971853	225591097	23659524	1847	12164											
EPHX1	2052	broad.mit.edu	37	chr1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagcgtttcgggaggtttCttggcctcactgagagggat	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	272					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(814-816)Ctt>Att		epoxide hydrolase 1, microsomal (xenobiotic)							191	171	178					1																	226027621		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027621C>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.814C>A	1.37:g.226027621C>A	ENSP00000355802:p.Leu272Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			6	1010	+	Breast(184;0.197)		272					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.814C>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435926	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.62232	0.04;0.04	5.57	-6.85	0.01681	Alpha/beta hydrolase fold-1 (1);	0.643450	0.16488	N	0.212251	T	0.43919	0.1269	L	0.46741	1.465	0.09310	N	0.99999	B	0.23540	0.087	B	0.27076	0.076	T	0.43734	-0.9373	10	0.12103	T	0.63	-5.3139	9.0791	0.36540	0.0:0.4664:0.1095:0.424	.	272	P07099	HYEP_HUMAN	I	272	ENSP00000272167:L272I;ENSP00000355802:L272I	ENSP00000272167:L272I	L	+	1	0	EPHX1	224094244	0.481000	0.25941	0.000000	0.03702	0.002000	0.02628	0.763000	0.26517	-1.000000	0.03438	-0.423000	0.05987	CTT		0.547	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		69	665	1	0	7.65386e-43	1	9.33002e-43	69	665					A	226027621	C	A	226027621	3	1	79	1	0	0	0	0	1	0	0	0	5197	913	32	3	832	3	EPHX1	1	226027621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436524	226027621	23223000	1848	12165											
LEFTY1	10637	broad.mit.edu	37	chr1	226074781	226074781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttcagggtcacagtcGccctgagctctgtgtgggca	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226074781G>A	ENST00000272134.5	-	4	826	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Nonsense_Mutation_p.R358*	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	249					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGTCACAGTCGCCCTGAGCTC	0.607																																						ENST00000432920.2																			0											c.(1072-1074)Cga>Tga									18	20	19					1																	226074781		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:226074781G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.747C>T	1.37:g.226074781G>A						LEFTY1_ENST00000272134.5_Silent_p.G249G	p.R358*							8	1239	-								B2R7U0|Q53H67|Q5TE94	Nonsense_Mutation	SNP	ENST00000272134.5	37	c.1072C>T	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461120	0.63513	.	.	ENSG00000255835	ENST00000432920	.	.	.	4.33	-4.54	0.03452	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5295	0.5159	0.00603	0.3469:0.1898:0.2604:0.2029	.	.	.	.	X	358	.	ENSP00000414068:R358X	R	-	1	2	RP4-559A3.7	224141404	0.329000	0.24696	0.006000	0.13384	0.313000	0.28021	-0.599000	0.05700	-1.159000	0.02807	-1.800000	0.00619	CGA		0.607	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		33	138	0	0	0	1	0	33	138					A	226074781	G	A	226074781	2	1	79	1	0	0	0	0	0	0	0	1	8746	1074	38	1		1	LEFTY1	1	226074781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47160	226074781	23175840	1849	12166											
LEFTY2	7044	broad.mit.edu	37	chr1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggggctccccaagccCggctggcgccccctgcgagg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	229					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(685-687)Ggg>Agg		left-right determination factor 2							13	15	14					1																	226127113		2198	4289	6487	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127113C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.685G>A	1.37:g.226127113C>T	ENSP00000355785:p.Gly229Arg					LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	p.G229R	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			3	1033	-	Breast(184;0.197)		229					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.685G>A	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	7.488	0.650146	0.14516	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68331	-0.08;-0.32	4.47	2.49	0.30216	.	0.699335	0.14840	N	0.295316	T	0.37625	0.1010	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.20046	T	0.44	.	2.3429	0.04264	0.2456:0.4717:0.0:0.2827	.	195;229	E9PDM4;O00292	.;LFTY2_HUMAN	R	195;229	ENSP00000388009:G195R;ENSP00000355785:G229R	ENSP00000355785:G229R	G	-	1	0	LEFTY2	224193736	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.028000	0.12350	0.952000	0.37798	0.561000	0.74099	GGG		0.692	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		41	124	0	0	0	1	0	41	124					T	226127113	C	T	226127113	3	4	79	1	0	0	0	0	1	0	0	0	8747	652	23	1	423	1	LEFTY2	1	226127113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52332	226127113	23123508	1850	12167											
LEFTY2	7044	broad.mit.edu	37	chr1	226128787	226128787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggtcagggccgccccGgggccagccaggggcagcac	16	17	1	0	rs370508860		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000420304.2_Silent_p.P18P|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	18					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(52-54)ccC>ccT		left-right determination factor 2		G	,	1,4325		0,1,2162	8	10	9		54,54	-9.9	0	1		9	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	LEFTY2	NM_001172425.1,NM_003240.3	,	0,1,6396	AA,AG,GG		0.0,0.0231,0.0078	,	18/333,18/367	226128787	1,12793	2163	4234	6397	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226128787G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.54C>T	1.37:g.226128787G>A						LEFTY2_ENST00000420304.2_Silent_p.P18P	p.P18P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			1	402	-	Breast(184;0.197)		18					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.54C>T	CCDS1549.1																																																																																				0.711	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		34	84	0	0	0	1	0	34	84					A	226128787	G	A	226128787	2	1	79	1	0	0	0	0	0	0	0	1	8747	1103	39	1		1	LEFTY2	1	226128787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1674	226128787	23121834	1851	12168											
ACBD3	64746	broad.mit.edu	37	chr1	226347059	226347059	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagctgccattatctgctgCctaaaaacattaaaaatata	4	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	243	Gln-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTGCTGCCTAAAAACAT	0.388																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e5-1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226347059C>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.729-1G>T	1.37:g.226347059C>A						ACBD3_ENST00000464927.1_Intron	p.K243_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	5	783	-	Breast(184;0.158)		243			Gln-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	SNP	ENST00000366812.5	37	c.728_splice	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818545	0.71028	.	.	ENSG00000182827	ENST00000366812	T	0.47869	0.83	5.73	5.73	0.89815	.	0.095038	0.64402	D	0.000001	T	0.70937	0.3281	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.72984	-0.4125	10	0.72032	D	0.01	.	19.8989	0.96978	0.0:1.0:0.0:0.0	.	243	Q9H3P7	GCP60_HUMAN	N	243	ENSP00000355777:K243N	ENSP00000355777:K243N	K	-	3	2	ACBD3	224413682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.706000	0.92434	0.555000	0.69702	AAG		0.388	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Missense_Mutation	58	321	1	0	2.5401e-28	1	2.95449e-28	58	321					A	226347059	C	A	226347059	5	1	79	1	0	0	0	0	0	0	1	0	123	753	26	3	873	3	ACBD3	1	226347059	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218272	226347059	22903562	1852	12169											
ACBD3	64746	broad.mit.edu	37	chr1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttcctcttcctcccgtcGaagcctttcctcttcttctc	3	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226349293G>A	ENST00000366812.5	-	4	721	c.667C>T	c.(667-669)Cga>Tga	p.R223*	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	223	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(667-669)Cga>Tga		acyl-CoA binding domain containing 3							133	109	117					1																	226349293		2203	4300	6503	SO:0001587	stop_gained	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226349293G>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.667C>T	1.37:g.226349293G>A	ENSP00000355777:p.Arg223*					ACBD3_ENST00000464927.1_5'UTR	p.R223*	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	721	-	Breast(184;0.158)		223			Arg-rich.|Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Nonsense_Mutation	SNP	ENST00000366812.5	37	c.667C>T	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194195	0.78902	.	.	ENSG00000182827	ENST00000366812	.	.	.	4.84	-9.22	0.00675	.	0.369517	0.30911	N	0.008625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1957	13.0271	0.58821	0.0922:0.0:0.6626:0.2452	.	.	.	.	X	223	.	ENSP00000355777:R223X	R	-	1	2	ACBD3	224415916	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.204000	0.09425	-1.427000	0.01992	-1.503000	0.00956	CGA		0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		39	330	0	0	0	1	0	39	330					A	226349293	G	A	226349293	4	1	79	1	0	0	0	0	0	1	0	0	123	1066	37	1	939	1	ACBD3	1	226349293	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2234	226349293	22901328	1853	12170											
MIXL1	83881	broad.mit.edu	37	chr1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggagggggcatctctgActctagctcccaaggtcaga	14	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	196					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5																			0				breast(1)	1						c.(586-588)gAc>gGc		Mix paired-like homeobox							91	95	94					1																	226413401		2203	4300	6503	SO:0001583	missense	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413401A>G	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"Homeoboxes / PRD class"	13363	protein-coding gene	gene with protein product		609852	"Mix1 homeobox (Xenopus laevis)-like 1", "Mix1 homeobox-like 1 (Xenopus laevis)"			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.587A>G	1.37:g.226413401A>G	ENSP00000355775:p.Asp196Gly					MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G	p.D196G			Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	651	+	Breast(184;0.158)		196					B7ZLF9	Missense_Mutation	SNP	ENST00000366810.5	37	c.587A>G	CCDS1552.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341473	0.24339	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15718	2.4;2.4	5.73	1.64	0.23874	.	0.898506	0.09278	N	0.824101	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.19590	T	0.45	-1.7763	3.934	0.09298	0.6419:0.0:0.1909:0.1672	.	196	Q9H2W2	MIXL1_HUMAN	G	204;196	ENSP00000442439:D204G;ENSP00000355775:D196G	ENSP00000355775:D196G	D	+	2	0	MIXL1	224480024	0.001000	0.12720	0.003000	0.11579	0.956000	0.61745	0.696000	0.25541	0.413000	0.25759	0.533000	0.62120	GAC		0.512	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			185	479	0	0	0	1	0	185	479					G	226413401	A	G	226413401	3	3	79	1	0	0	0	0	1	0	0	0	9638	275	10	4	593	4	MIXL1	1	226413401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64108	226413401	22837220	1854	12171											
MIXL1	83881	broad.mit.edu	37	chr1	226413512	226413512	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctgcctttggtaacttttGaggattctgggagaattcgg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	0					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTAACTTTTGAGGATTCTGG	0.468																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5																			0				breast(1)	1						c.(697-699)tGa>tAa		Mix paired-like homeobox							121	118	119					1																	226413512		2203	4300	6503	SO:0001819	synonymous_variant	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413512G>A	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"Homeoboxes / PRD class"	13363	protein-coding gene	gene with protein product		609852	"Mix1 homeobox (Xenopus laevis)-like 1", "Mix1 homeobox-like 1 (Xenopus laevis)"			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.698G>A	1.37:g.226413512G>A						MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*	p.*233*			Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	762	+	Breast(184;0.158)		0					B7ZLF9	Silent	SNP	ENST00000366810.5	37	c.698G>A	CCDS1552.1																																																																																				0.468	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			26	1009	0	0	0	1	0	26	1009					A	226413512	G	A	226413512	2	1	79	1	0	0	0	0	0	0	0	1	9638	1304	45	2		2	MIXL1	1	226413512	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	226413512	22837109	1855	12172											
LIN9	286826	broad.mit.edu	37	chr1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaaaggcagcaattgGcattgtctcatgaggttcat	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	281					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCAGCAATTGGCATTGTCTCA	0.363																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(889-891)Cca>Tca		lin-9 homolog (C. elegans)							58	58	58					1																	226454009		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226454009G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.889C>T	1.37:g.226454009G>A	ENSP00000329102:p.Pro297Ser					LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	p.P297S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1434	-	Breast(184;0.158)		281					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.889C>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005920	0.54254	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.33485	1.01	0.80722	D	1	B;B;P	0.37330	0.15;0.11;0.59	B;B;B	0.34180	0.027;0.057;0.177	T	0.39482	-0.9612	9	0.25106	T	0.35	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	262;281;431	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	257;297;352;246;262;431	.	ENSP00000329102:P297S	P	-	1	0	LIN9	224520632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.584000	0.90798	2.763000	0.94921	0.561000	0.74099	CCA		0.363	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		37	97	0	0	0	1	0	37	97					A	226454009	G	A	226454009	3	1	79	1	0	0	0	0	1	0	0	0	8846	1203	42	2	815	2	LIN9	1	226454009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40497	226454009	22796612	1856	12173											
PARP1	142	broad.mit.edu	37	chr1	226553752	226553752	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaatctctgtcaaccAcctggataaacagaatcttg	6	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	803	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.e18-1	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							100	81	87					1																	226553752		2203	4300	6503	SO:0001630	splice_region_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226553752A>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2407-1T>C	1.37:g.226553752A>G						PARP1_ENST00000490921.1_5'UTR	p.V803_splice	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	18	2551	-	Breast(184;0.133)		803			PARP catalytic.		B1ANJ4|Q8IUZ9	Splice_Site	SNP	ENST00000366794.5	37	c.2406_splice	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319665	0.60524	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43923	1.385	0.80722	D	1	P	0.39022	0.655	B	0.38327	0.271	T	0.04870	-1.0921	10	0.27082	T	0.32	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	803	P09874	PARP1_HUMAN	A	803	ENSP00000355759:V803A	ENSP00000355759:V803A	V	-	2	0	PARP1	224620375	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	8.253000	0.89842	2.177000	0.69029	0.528000	0.53228	GTG		0.453	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	Missense_Mutation	48	166	0	0	0	1	0	48	166					G	226553752	A	G	226553752	5	3	79	1	0	0	0	0	0	0	1	0	11496	173	6	4	660	4	PARP1	1	226553752	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99743	226553752	22696869	1857	12174											
PARP1	142	broad.mit.edu	37	chr1	226566902	226566902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggagttggttcctttaacGatgtccaccaggccaagggt	12	9	0	0	rs534105862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	562					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					G|||	1	0.000199681	0.0	0.0	5008	,	,		22184	0.001		0.0	False		,,,				2504	0.0					ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1684-1686)atC>atT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							213	186	195					1																	226566902		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226566902G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1686C>T	1.37:g.226566902G>A							p.I562I	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	12	1829	-	Breast(184;0.133)		562					B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.1686C>T	CCDS1554.1																																																																																				0.537	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		193	558	0	0	0	1	0	193	558					A	226566902	G	A	226566902	2	1	79	1	0	0	0	0	0	0	0	1	11496	1048	37	1		1	PARP1	1	226566902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13150	226566902	22683719	1858	12175											
PARP1	142	broad.mit.edu	37	chr1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-													ccacggaggcgctggtttctGgggggaatatacggtcctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)ccafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1075-1077)cafs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							114	142	132					1																	226570820		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570820delG	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1076delC	1.37:g.226570820delG	ENSP00000355759:p.Pro359fs						p.P359fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1219	-	Breast(184;0.133)		359					B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1076delC	CCDS1554.1																																																																																				0.502	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		8	2371						8	2371	---	---	---	---	-	226570820	G	-	226570820	7	5	79	1	0	1	0	1	0	0	0	0	11496	1348	47	0	2032	0	PARP1	1	226570820	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	3918	226570820	22679801	1859	12176											
PARP1	142	broad.mit.edu	37	chr1	226573298	226573298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcagtaataggcatcGctcttgaagaccagctgacc	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			1	Substitution - coding silent(1)	p.S306S(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(916-918)agC>agT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							122	102	109					1																	226573298		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226573298G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	1.37:g.226573298G>A							p.S306S	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	7	1061	-	Breast(184;0.133)		306					B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.918C>T	CCDS1554.1																																																																																				0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		104	350	0	0	0	1	0	104	350					A	226573298	G	A	226573298	2	1	79	1	0	0	0	0	0	0	0	1	11496	1078	38	1		1	PARP1	1	226573298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2478	226573298	22677323	1860	12177											
PARP1	142	broad.mit.edu	37	chr1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctgctggtcatcccaccGaagctcagagaacccatcca	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366791.5_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366792.1_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	78					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(232-234)Cgg>Tgg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							99	86	91					1																	226589969		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226589969G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.232C>T	1.37:g.226589969G>A	ENSP00000355759:p.Arg78Trp					PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W	p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	2	375	-	Breast(184;0.133)		78					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.232C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333371	0.81801	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.2	3.25	0.37280	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80450	-0.1377	10	0.87932	D	0	.	14.6497	0.68786	0.0:0.0:0.797:0.203	.	78	P09874	PARP1_HUMAN	W	78	ENSP00000355759:R78W;ENSP00000355757:R78W;ENSP00000355756:R78W;ENSP00000355755:R78W	ENSP00000355755:R78W	R	-	1	2	PARP1	224656592	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.067000	0.57527	0.486000	0.27676	0.650000	0.86243	CGG		0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		67	352	0	0	0	1	0	67	352					A	226589969	G	A	226589969	3	1	79	1	0	0	0	0	1	0	0	0	11496	1057	37	1	2900	1	PARP1	1	226589969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16671	226589969	22660652	1861	12178											
ITPKB	3707	broad.mit.edu	37	chr1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccatcacacagggcgagtCgaagtcggccagcaggtcgt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000272117.3	-	3	2208	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	737					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2209-2211)Gac>Aac		inositol-trisphosphate 3-kinase B							177	122	141					1																	226834905		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226834905C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2209G>A	1.37:g.226834905C>T	ENSP00000272117:p.Asp737Asn					ITPKB_ENST00000272117.3_Missense_Mutation_p.D737N	p.D737N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2536	-		Prostate(94;0.0773)	737					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2209G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802088	0.90538	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16597	2.33;2.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.71206	2.165	0.51767	D	0.999931	D	0.76494	0.999	D	0.66084	0.941	T	0.16394	-1.0404	10	0.48119	T	0.1	-13.0163	19.1764	0.93604	0.0:1.0:0.0:0.0	.	737	P27987	IP3KB_HUMAN	N	737	ENSP00000272117:D737N;ENSP00000411152:D737N	ENSP00000272117:D737N	D	-	1	0	ITPKB	224901528	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.847000	0.69451	2.540000	0.85666	0.655000	0.94253	GAC		0.607	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		28	361	0	0	0	1	0	28	361					T	226834905	C	T	226834905	3	4	79	1	0	0	0	0	1	0	0	0	7948	884	31	1	651	1	ITPKB	1	226834905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244936	226834905	22415716	1862	12179											
ITPKB	3707	broad.mit.edu	37	chr1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactcacagtgcttcttcaGgatcctgccattggcagctg	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000272117.3	-	3	2064	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	689					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2065-2067)Ctg>Atg		inositol-trisphosphate 3-kinase B							69	62	64					1																	226835049		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226835049G>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2065C>A	1.37:g.226835049G>T	ENSP00000272117:p.Leu689Met					ITPKB_ENST00000272117.3_Missense_Mutation_p.L689M	p.L689M	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2392	-		Prostate(94;0.0773)	689					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2065C>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660264	0.67586	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16743	2.32;2.32	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.85630	2.765	0.49130	D	0.999755	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.72032	D	0.01	-14.7074	14.6107	0.68514	0.0829:0.0:0.9171:0.0	.	689	P27987	IP3KB_HUMAN	M	689	ENSP00000272117:L689M;ENSP00000411152:L689M	ENSP00000272117:L689M	L	-	1	2	ITPKB	224901672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.320000	0.72876	2.429000	0.82318	0.655000	0.94253	CTG		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		17	150	1	0	1.67942e-08	1	1.75525e-08	17	150					T	226835049	G	T	226835049	3	4	79	1	0	0	0	0	1	0	0	0	7948	991	35	3	795	3	ITPKB	1	226835049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	226835049	22415572	1863	12180											
ITPKB	3707	broad.mit.edu	37	chr1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggcagctgccttgaaActccctggagagcaagtgta	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000272117.3	-	3	2036	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	679					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2035-2037)agT>agG		inositol-trisphosphate 3-kinase B							46	45	45					1																	226835077		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226835077A>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2037T>G	1.37:g.226835077A>C	ENSP00000272117:p.Ser679Arg					ITPKB_ENST00000272117.3_Missense_Mutation_p.S679R	p.S679R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2364	-		Prostate(94;0.0773)	679					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2037T>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589483	0.66105	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14266	2.52;2.52	5.19	-3.39	0.04868	.	0.039060	0.85682	D	0.000000	T	0.27765	0.0683	M	0.61703	1.905	0.52099	D	0.999941	D	0.89917	1.0	D	0.73708	0.981	T	0.01977	-1.1236	10	0.72032	D	0.01	-15.5533	12.5148	0.56026	0.7588:0.0:0.2412:0.0	.	679	P27987	IP3KB_HUMAN	R	679	ENSP00000272117:S679R;ENSP00000411152:S679R	ENSP00000272117:S679R	S	-	3	2	ITPKB	224901700	0.028000	0.19301	0.987000	0.45799	0.809000	0.45718	-0.661000	0.05311	-0.545000	0.06224	0.533000	0.62120	AGT		0.622	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		24	94	0	0	0	1	0	24	94					C	226835077	A	C	226835077	3	2	79	1	0	0	0	0	1	0	0	0	7948	40	2	4	823	4	ITPKB	1	226835077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	226835077	22415544	1864	12181											
ITPKB	3707	broad.mit.edu	37	chr1	226925067	226925067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggggcgggggcgtctcGctgccactgggccccgggcc	19	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226925067G>A	ENST00000272117.3	-	1	92	c.93C>T	c.(91-93)agC>agT	p.S31S	ITPKB_ENST00000429204.1_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	31					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCGTCTCGCTGCCACTGG	0.662																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(91-93)agC>agT		inositol-trisphosphate 3-kinase B							8	10	10					1																	226925067		2062	4062	6124	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226925067G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.93C>T	1.37:g.226925067G>A						ITPKB_ENST00000272117.3_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S	p.S31S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	420	-		Prostate(94;0.0773)	31					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.93C>T	CCDS1555.1																																																																																				0.662	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		7	181	0	0	0	1	0	7	181					A	226925067	G	A	226925067	2	1	79	1	0	0	0	0	0	0	0	1	7948	1078	38	1		1	ITPKB	1	226925067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89990	226925067	22325554	1865	12182											
PSEN2	5664	broad.mit.edu	37	chr1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatgctggtagaaactgCccaggagagaaatgagccca	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366783.3	+	9	1278	c.842C>T	c.(841-843)gCc>gTc	p.A281V	PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000366782.1_Missense_Mutation_p.A314V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	281					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(940-942)gCc>gTc		presenilin 2 (Alzheimer disease 4)							145	127	133					1																	227077790		2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227077790C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.842C>T	1.37:g.227077790C>T	ENSP00000355747:p.Ala281Val					PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000366783.3_Missense_Mutation_p.A281V|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V	p.A314V			P49810	PSN2_HUMAN			9	1441	+		Prostate(94;0.0771)	281					A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.941C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372828	0.95923	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.89534	3.04	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.71414	0.855;0.973	D	0.96683	0.9505	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	281;281	A8K8D4;P49810	.;PSN2_HUMAN	V	281;281;108;314;314;137	ENSP00000355747:A281V;ENSP00000403737:A281V;ENSP00000427912:A108V;ENSP00000355746:A314V;ENSP00000375745:A314V;ENSP00000427806:A137V	ENSP00000355746:A314V	A	+	2	0	PSEN2	225144413	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.709000	0.84645	2.460000	0.83146	0.563000	0.77884	GCC		0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		89	489	0	0	0	1	0	89	489					T	227077790	C	T	227077790	3	4	79	1	0	0	0	0	1	0	0	0	12698	739	26	2	864	2	PSEN2	1	227077790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152723	227077790	22172831	1866	12183											
CABC1	56997	broad.mit.edu	37	chr1	227172643	227172643	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgacctctacattcagGtaactggagaggggccctgg	12	12	3	1	rs113227759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227172643G>A	ENST00000366779.1	+	18	4343		c.e18+1		ADCK3_ENST00000433743.2_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000478406.1_Splice_Site			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTACATTCAGGTAACTGGAGA	0.567																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.e18+1		aarF domain containing kinase 3							57	55	55					1																	227172643		2203	4300	6503	SO:0001630	splice_region_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227172643G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1572+1G>A	1.37:g.227172643G>A						ADCK3_ENST00000478406.1_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366776.1_Splice_Site|ADCK3_ENST00000366775.1_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site				Q8NI60	ADCK3_HUMAN			18	4343	+								Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Splice_Site	SNP	ENST00000366779.1	37		CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050988	0.75960	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK3	225239266	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	9.805000	0.99149	2.429000	0.82318	0.561000	0.74099	.		0.567	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	Intron	57	196	0	0	0	1	0	57	196					A	227172643	G	A	227172643	5	1	79	1	0	0	0	0	0	0	1	0	2534	1275	44	2	1619	2	CABC1	1	227172643	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94853	227172643	22077978	1867	12184											
CABC1	56997	broad.mit.edu	37	chr1	227174321	227174321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggaaacctactccctGcacaggaagatggggggctc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227174321G>A	ENST00000366779.1	+	20	4598	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	ADCK3_ENST00000433743.2_Silent_p.L283L|ADCK3_ENST00000458507.2_Silent_p.L330L|ADCK3_ENST00000366777.3_Silent_p.L609L|ADCK3_ENST00000366778.1_Silent_p.L557L|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	609					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTACTCCCTGCACAGGAAGA	0.582																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(1825-1827)ctG>ctA		aarF domain containing kinase 3							103	100	101					1																	227174321		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174321G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1827G>A	1.37:g.227174321G>A						ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Silent_p.L557L|ADCK3_ENST00000458507.2_Silent_p.L330L|ADCK3_ENST00000366777.3_Silent_p.L609L|ADCK3_ENST00000366776.1_Silent_p.L534L|ADCK3_ENST00000366775.1_Silent_p.L454L|ADCK3_ENST00000433743.2_Silent_p.L283L	p.L609L			Q8NI60	ADCK3_HUMAN			20	4598	+			609					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.1827G>A	CCDS1557.1																																																																																				0.582	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		70	488	0	0	0	1	0	70	488					A	227174321	G	A	227174321	2	1	79	1	0	0	0	0	0	0	0	1	2534	1306	46	2		2	CABC1	1	227174321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1678	227174321	22076300	1868	12185											
CDC42BPA	8476	broad.mit.edu	37	chr1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatatattaatctaatgGtctccaaccctaaaagattt	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(4474-4476)aCc>aAc		CDC42 binding protein kinase alpha (DMPK-like)							46	47	46					1																	227210999		2192	4289	6481	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227210999G>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4475C>A	1.37:g.227210999G>T	ENSP00000355731:p.Thr1492Asn					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N	p.T1492N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			31	5766	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1505			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.4475C>A	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.864684|3.864684	0.71949|0.71949	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.66460	.|-0.17;-0.17;-0.18;-0.18;-0.21;-0.18;-0.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77046|0.77046	0.4073|0.4073	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;P;D	.|0.89917	.|1.0;0.981;0.984;0.683;0.999;0.868;0.793;1.0	.|D;P;P;B;D;B;B;D	.|0.85130	.|0.997;0.74;0.67;0.402;0.986;0.284;0.284;0.997	T|T	0.71094|0.71094	-0.4692|-0.4692	5|10	.|0.21540	.|T	.|0.41	.|.	19.3466|19.3466	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1472;1464;807;389;1411;1492;1527;694	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	E|N	694;820;389;716|1492;1411;1492;1527;1464;807;1472;1505	.|ENSP00000355731:T1492N;ENSP00000355729:T1411N;ENSP00000335341:T1492N;ENSP00000355728:T1527N;ENSP00000355726:T1464N;ENSP00000443275:T1472N;ENSP00000355727:T1505N	.|ENSP00000335341:T1492N	D|T	-|-	3|2	2|0	CDC42BPA|CDC42BPA	225277622|225277622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.845000|8.845000	0.92153|0.92153	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.274	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		14	112	1	0	2.31682e-05	1	2.36778e-05	14	112					T	227210999	G	T	227210999	3	4	79	1	0	0	0	0	1	0	0	0	3081	1261	44	3	708	3	CDC42BPA	1	227210999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36678	227210999	22039622	1869	12186											
CDC42BPA	8476	broad.mit.edu	37	chr1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaaaagtcgtacatgacGatttcgtcctgagatcacag	10	8	1	2	rs267598394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3823-3825)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							55	51	52					1																	227216862		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227216862G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3823C>T	1.37:g.227216862G>A	ENSP00000355731:p.Arg1275Cys					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C	p.R1275C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			29	5114	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1288			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.3823C>T	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809480|4.809480	0.90707|0.90707	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.047547|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.72982|.	0.949;0.972;0.977;0.977;0.947;0.979;0.979;0.969|.	T|T	0.77988|0.77988	-0.2380|-0.2380	10|5	0.87932|.	D|.	0|.	.|.	19.3729|19.3729	0.94495|0.94495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1255;1247;590;172;1194;1275;1310;477|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	C|L	1275;1194;1275;1310;1247;590;1255;1288|477;603;172;499	ENSP00000355731:R1275C;ENSP00000355729:R1194C;ENSP00000335341:R1275C;ENSP00000355728:R1310C;ENSP00000355726:R1247C;ENSP00000443275:R1255C;ENSP00000355727:R1288C|.	ENSP00000335341:R1275C|.	R|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225283485|225283485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.830000|7.830000	0.86741|0.86741	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		40	216	0	0	0	1	0	40	216					A	227216862	G	A	227216862	3	1	79	1	0	0	0	0	1	0	0	0	3081	1058	37	1	1368	1	CDC42BPA	1	227216862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	227216862	22033759	1870	12187											
CDC42BPA	8476	broad.mit.edu	37	chr1	227261640	227261640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctcttatttctgcaTccagagccgactgcaactcc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227261640T>C	ENST00000366769.3	-	19	3951	c.2660A>G	c.(2659-2661)gAt>gGt	p.D887G	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTTCTGCATCCAGAGCCGA	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2659-2661)gAt>gGt		CDC42 binding protein kinase alpha (DMPK-like)							149	147	148					1																	227261640		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261640T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2660A>G	1.37:g.227261640T>C	ENSP00000355731:p.Asp887Gly					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G	p.D887G	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			19	3951	-		all_cancers(173;0.156)|Prostate(94;0.0792)	887						Missense_Mutation	SNP	ENST00000366769.3	37	c.2660A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776394	0.70107	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.74258	2.255	0.80722	D	1	D;D;B;D;B;B;D	0.76494	0.999;0.983;0.104;0.999;0.02;0.02;0.999	D;P;B;D;B;B;D	0.91635	0.998;0.857;0.143;0.986;0.03;0.03;0.999	T	0.67229	-0.5723	10	0.51188	T	0.08	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	887;887;151;806;887;887;89	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	G	887;806;887;887;887;151;887;887	ENSP00000355731:D887G;ENSP00000355729:D806G;ENSP00000335341:D887G;ENSP00000355728:D887G;ENSP00000355726:D887G;ENSP00000443275:D887G;ENSP00000355727:D887G	ENSP00000335341:D887G	D	-	2	0	CDC42BPA	225328263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.586000	0.82596	2.168000	0.68352	0.533000	0.62120	GAT		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	689	0	0	0	1	0	11	689					C	227261640	T	C	227261640	3	2	79	1	0	0	0	0	1	0	0	0	3081	1435	50	4	2571	4	CDC42BPA	1	227261640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44778	227261640	21988981	1871	12188											
CDC42BPA	8476	broad.mit.edu	37	chr1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctacaaatgagccttCgaataagatccttagcattt	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(955-957)cGa>cAa		CDC42 binding protein kinase alpha (DMPK-like)							90	89	89					1																	227333377		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227333377C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.956G>A	1.37:g.227333377C>T	ENSP00000355731:p.Arg319Gln					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q	p.R319Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			8	2247	-		all_cancers(173;0.156)|Prostate(94;0.0792)	319			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.956G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	367	0	0	0	1	0	11	367					T	227333377	C	T	227333377	3	4	79	1	0	0	0	0	1	0	0	0	3081	884	31	1	4319	1	CDC42BPA	1	227333377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71737	227333377	21917244	1872	12189											
ZNF678	339500	broad.mit.edu	37	chr1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacctcactcagcataaaaGaattcatactggagagaaac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	369					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.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388																																						ENST00000343776.4																			1	Substitution - Missense(1)	p.R369I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1105-1107)aGa>aTa		zinc finger protein 678							34	38	36					1																	227843057		2199	4295	6494	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843057G>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1106G>T	1.37:g.227843057G>T	ENSP00000344828:p.Arg369Ile					ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000498759.1_Intron	p.R369I			F5GXA7	F5GXA7_HUMAN			4	1451	+		Prostate(94;0.0885)	424					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1106G>T		.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	L	0.50333	1.59	0.45108	D	0.998124	P	0.40180	0.705	P	0.47346	0.544	T	0.03957	-1.0989	9	0.33141	T	0.24	.	6.2127	0.20638	0.1959:0.0:0.8041:0.0	.	369	Q5SXM1	ZN678_HUMAN	I	369;424	ENSP00000344828:R369I;ENSP00000440403:R424I	ENSP00000344828:R369I	R	+	2	0	ZNF678	225909680	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.192000	0.09587	-0.085000	0.12573	-0.283000	0.09986	AGA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		65	199	1	0	5.82089e-37	1	6.98174e-37	65	199					T	227843057	G	T	227843057	3	4	79	1	0	0	0	0	1	0	0	0	18138	942	33	3	1285	3	ZNF678	1	227843057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509680	227843057	21407564	1873	12190											
SNAP47	116841	broad.mit.edu	37	chr1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcatctgggctgatgGgccgtaccctgcaccgtgag	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S|SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	380					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1138-1140)Ggc>Agc		synaptosomal-associated protein, 47kDa							69	60	63					1																	227954674		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227954674G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1138G>A	1.37:g.227954674G>A	ENSP00000355721:p.Gly380Ser					SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S|SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S	p.G380S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			4	1552	+			380					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1138G>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.151|4.151	0.026409|0.026409	0.08054|0.08054	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.43294	.|0.95;2.27;2.25	4.52|4.52	3.57|3.57	0.40892|0.40892	.|.	0.400770|0.400770	0.25040|0.25040	N|N	0.033613|0.033613	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;P	.|0.36535	.|0.301;0.408;0.301;0.557	.|B;B;B;B	.|0.31191	.|0.117;0.077;0.117;0.125	T|T	0.13575|0.13575	-1.0504|-1.0504	6|10	.|0.29301	.|T	.|0.29	-16.4939|-16.4939	9.3542|9.3542	0.38157|0.38157	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|380;192;380;138	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	E|S	192;371|138;380;380	.|ENSP00000355722:G138S;ENSP00000355721:G380S;ENSP00000314157:G380S	.|ENSP00000314157:G380S	G|G	+|+	2|1	0|0	SNAP47|SNAP47	226021297|226021297	0.995000|0.995000	0.38212|0.38212	0.222000|0.222000	0.23844|0.23844	0.263000|0.263000	0.26337|0.26337	3.928000|3.928000	0.56506|0.56506	1.057000|1.057000	0.40506|0.40506	0.555000|0.555000	0.69702|0.69702	GGG|GGC		0.607	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		63	187	0	0	0	1	0	63	187					A	227954674	G	A	227954674	3	1	79	1	0	0	0	0	1	0	0	0	14882	1232	43	2	1152	2	SNAP47	1	227954674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111617	227954674	21295947	1874	12191											
WNT9A	7483	broad.mit.edu	37	chr1	228109546	228109546	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgccggcagcttcattGgtggtgctgcccaccttgag	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	257					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(769-771)acC>acA		wingless-type MMTV integration site family, member 9A							54	55	55					1																	228109546		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109546G>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.771C>A	1.37:g.228109546G>T						WNT9A_ENST00000497852.1_Intron	p.T257T	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	781	-		Prostate(94;0.0405)	257					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.771C>A	CCDS31045.1																																																																																				0.677	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		44	512	1	0	3.86236e-30	1	4.52529e-30	44	512					T	228109546	G	T	228109546	2	4	79	1	0	0	0	0	0	0	0	1	17452	1335	47	3		3	WNT9A	1	228109546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154872	228109546	21141075	1875	12192											
WNT3A	89780	broad.mit.edu	37	chr1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggctccttcggcacgCgcgaccgcacctgcaacgtc	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	293					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(877-879)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							13	13	13					1																	228246984		2196	4295	6491	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246984C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.877C>T	1.37:g.228246984C>T	ENSP00000284523:p.Arg293Cys					WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			4	955	+		Prostate(94;0.0405)	293					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.877C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216473	0.95104	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76839	-1.05;-1.05	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.67725	0.932;0.953	D	0.90820	0.4708	10	0.45353	T	0.12	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	293;293	P56704;Q3SY79	WNT3A_HUMAN;.	C	293	ENSP00000284523:R293C;ENSP00000355715:R293C	ENSP00000284523:R293C	R	+	1	0	WNT3A	226313607	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.783000	0.62403	2.300000	0.77407	0.491000	0.48974	CGC		0.692	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		20	57	0	0	0	1	0	20	57					T	228246984	C	T	228246984	3	4	79	1	0	0	0	0	1	0	0	0	17443	768	27	1	891	1	WNT3A	1	228246984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137438	228246984	21003637	1876	12193											
ARF1	375	broad.mit.edu	37	chr1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatccggcccctgtggcGccactacttccagaacacac	8	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(235-237)cGc>cAc		ADP-ribosylation factor 1							71	71	71					1																	228285130		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285130G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.236G>A	1.37:g.228285130G>A	ENSP00000440005:p.Arg79His					ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR	p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			3	498	+		Prostate(94;0.0405)	79					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.236G>A	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999806	0.54147	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66638	-0.22;-0.22;-0.22	5.39	3.49	0.39957	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.70360	0.3215	M	0.89601	3.045	0.80722	D	1	B	0.29162	0.235	B	0.23716	0.048	T	0.75772	-0.3200	10	0.87932	D	0	-13.7481	12.3362	0.55069	0.1392:0.0:0.8608:0.0	.	79	P84077	ARF1_HUMAN	H	79	ENSP00000272102:R79H;ENSP00000442980:R79H;ENSP00000440005:R79H	ENSP00000272102:R79H	R	+	2	0	ARF1	226351753	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.575000	0.98187	1.521000	0.48983	-0.373000	0.07131	CGC		0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		48	493	0	0	0	1	0	48	493					A	228285130	G	A	228285130	3	1	79	1	0	0	0	0	1	0	0	0	844	1087	38	1	242	1	ARF1	1	228285130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38146	228285130	20965491	1877	12194											
GJC2	57165	broad.mit.edu	37	chr1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactccaccttcgtgggcaaGgtgtggctcacggtgctggt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	25					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(73-75)aaG>aaT		gap junction protein, gamma 2, 47kDa							54	34	41					1																	228345534		2199	4299	6498	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345534G>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.75G>T	1.37:g.228345534G>T	ENSP00000355675:p.Lys25Asn						p.K25N	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	250	+		Prostate(94;0.0405)	25					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.75G>T	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217468	0.58560	.	.	ENSG00000198835	ENST00000366714	D	0.99388	-5.81	4.23	2.32	0.28847	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99755	1.1019	10	0.87932	D	0	.	9.419	0.38539	0.1773:0.0:0.8227:0.0	.	25	Q5T442	CXG2_HUMAN	N	25	ENSP00000355675:K25N	ENSP00000355675:K25N	K	+	3	2	GJC2	226412157	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.502000	0.53332	0.422000	0.26005	0.491000	0.48974	AAG		0.647	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		15	72	1	0	1.62849e-17	1	1.79894e-17	15	72					T	228345534	G	T	228345534	3	4	79	1	0	0	0	0	1	0	0	0	6444	991	35	3	77	3	GJC2	1	228345534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60404	228345534	20905087	1878	12195											
GJC2	57165	broad.mit.edu	37	chr1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcacttgcaacacgcGgcagccaggctgcgacaacg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	59					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(175-177)cGg>cAg		gap junction protein, gamma 2, 47kDa							70	53	59					1																	228345635		2203	4300	6503	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345635G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.176G>A	1.37:g.228345635G>A	ENSP00000355675:p.Arg59Gln						p.R59Q	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	351	+		Prostate(94;0.0405)	59					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.176G>A	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781455	0.16120	.	.	ENSG00000198835	ENST00000366714	D	0.99014	-5.33	4.23	4.23	0.50019	Connexin, conserved site (1);Connexin, N-terminal (2);	0.085302	0.40818	N	0.001014	D	0.93442	0.7908	N	0.02412	-0.56	0.32788	N	0.50156	D	0.53745	0.962	P	0.47626	0.552	D	0.93093	0.6501	10	0.02654	T	1	.	5.0104	0.14310	0.2671:0.0:0.7329:0.0	.	59	Q5T442	CXG2_HUMAN	Q	59	ENSP00000355675:R59Q	ENSP00000355675:R59Q	R	+	2	0	GJC2	226412258	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	6.008000	0.70739	2.204000	0.70986	0.491000	0.48974	CGG		0.642	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		39	130	0	0	0	1	0	39	130					A	228345635	G	A	228345635	3	1	79	1	0	0	0	0	1	0	0	0	6444	1116	39	1	178	1	GJC2	1	228345635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	228345635	20904986	1879	12196											
C1orf69	200205	broad.mit.edu	37	chr1	228363174	228363174	+	Missense_Mutation	SNP	C	C	T													gggtgcccaggtggccttagCcgcatctgtgccagactggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363174C>T	ENST00000366711.3	+	3	1033	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	IBA57_ENST00000546123.1_Missense_Mutation_p.A151V|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	344					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GTGGCCTTAGCCGCATCTGTG	0.647																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(1030-1032)gCc>gTc		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							73	79	77					1																	228363174		2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363174C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1031C>T	1.37:g.228363174C>T	ENSP00000355672:p.Ala344Val					IBA57_ENST00000546123.1_Missense_Mutation_p.A151V|IBA57_ENST00000484749.1_3'UTR	p.A344V	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	1033	+			344						Missense_Mutation	SNP	ENST00000366711.3	37	c.1031C>T	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232819	0.09969	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.44482	0.92;0.92	5.29	3.23	0.37069	.	0.565058	0.20093	N	0.099412	T	0.17619	0.0423	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.07481	-1.0770	10	0.29301	T	0.29	-15.7912	3.0063	0.06030	0.2658:0.4689:0.15:0.1153	.	344	Q5T440	CAF17_HUMAN	V	344;151	ENSP00000355672:A344V;ENSP00000437347:A151V	ENSP00000355672:A344V	A	+	2	0	IBA57	226429797	0.000000	0.05858	0.021000	0.16686	0.115000	0.19883	0.293000	0.19029	1.412000	0.46977	0.650000	0.86243	GCC		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		106	618	0	0	0	1	0	106	618					T	228363174	C	T	228363174	3	4	79	1	0	0	0	0	1	0	0	0	2064	739	26	2	1041	2	C1orf69	1	228363174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17539	228363174	20887447	1880	12197	76	2									
C1orf69	200205	broad.mit.edu	37	chr1	228363176	228363176	+	Missense_Mutation	SNP	G	G	A													gtgcccaggtggccttagccGcatctgtgccagactggtgg					rs150912462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363176G>A	ENST00000366711.3	+	3	1035	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	IBA57_ENST00000546123.1_Missense_Mutation_p.A152T|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCCTTAGCCGCATCTGTGCC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18906	0.0		0.001	False		,,,				2504	0.0					ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(1033-1035)Gca>Aca		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72	78	76		1033	4.3	0	1	dbSNP_134	76	4,8594	3.7+/-12.6	0,4,4295	yes	missense	IBA57	NM_001010867.2	58	0,5,6497	AA,AG,GG		0.0465,0.0227,0.0384	benign	345/357	228363176	5,12999	2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363176G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1033G>A	1.37:g.228363176G>A	ENSP00000355672:p.Ala345Thr					IBA57_ENST00000546123.1_Missense_Mutation_p.A152T|IBA57_ENST00000484749.1_3'UTR	p.A345T	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	1035	+			345						Missense_Mutation	SNP	ENST00000366711.3	37	c.1033G>A	CCDS31046.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.52	2.261711	0.39995	2.27E-4	4.65E-4	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.45276	0.9;0.9	5.29	4.34	0.51931	.	0.217790	0.47093	D	0.000253	T	0.48390	0.1497	M	0.69823	2.125	0.43444	D	0.995629	P	0.38078	0.617	B	0.42319	0.383	T	0.44205	-0.9343	10	0.25751	T	0.34	-5.6154	17.4459	0.87577	0.0:0.1343:0.8657:0.0	.	345	Q5T440	CAF17_HUMAN	T	345;152	ENSP00000355672:A345T;ENSP00000437347:A152T	ENSP00000355672:A345T	A	+	1	0	IBA57	226429799	1.000000	0.71417	0.023000	0.16930	0.168000	0.22595	6.874000	0.75546	2.753000	0.94483	0.650000	0.86243	GCA		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		104	609	0	0	0	1	0	104	609					A	228363176	G	A	228363176	3	1	79	1	0	0	0	0	1	0	0	0	2064	1087	38	1	1043	1	C1orf69	1	228363176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	228363176	20887445	1881	12198	76	2									
OBSCN	84033	broad.mit.edu	37	chr1	228437821	228437821	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgagctccagctcgaaagttCgaatggaggctgtgggctgc	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000422127.1	+	14	4233	c.4189C>A	c.(4189-4191)Cga>Aga	p.R1397R	OBSCN_ENST00000570156.2_Silent_p.R1489R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746). {ECO:0000305}.|RM -> HV (in Ref. 1; CAC85749). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4465-4467)Cga>Aga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							73	80	78					1																	228437821		2094	4201	6295	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437821C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4189C>A	1.37:g.228437821C>A						OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000422127.1_Silent_p.R1397R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.R1489R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4539	+		Prostate(94;0.0405)	467			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4465C>A	CCDS58065.1																																																																																				0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		195	507	1	0	3.06238e-75	1	3.90405e-75	195	507					A	228437821	C	A	228437821	2	1	79	1	0	0	0	0	0	0	0	1	10854	876	31	3		3	OBSCN	1	228437821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74645	228437821	20812800	1882	12199											
OBSCN	84033	broad.mit.edu	37	chr1	228444434	228444434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaccacactcagctgCgaggtggctcaggcccagac	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000422127.1	+	15	4436	c.4392C>T	c.(4390-4392)tgC>tgT	p.C1464C	OBSCN_ENST00000570156.2_Silent_p.C1556C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1464	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTCAGCTGCGAGGTGGCTC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4666-4668)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45	45	45					1																	228444434		2042	4171	6213	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444434C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4392C>T	1.37:g.228444434C>T						OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000422127.1_Silent_p.C1464C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.C1556C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4742	+		Prostate(94;0.0405)	533			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4668C>T	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	309	0	0	0	1	0	14	309					T	228444434	C	T	228444434	2	4	79	1	0	0	0	0	0	0	0	1	10854	776	27	1		1	OBSCN	1	228444434	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6613	228444434	20806187	1883	12200											
OBSCN	84033	broad.mit.edu	37	chr1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgccaaggagcagccaGcacacagggaggtgcaggct	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000422127.1	+	17	4938	c.4894G>T	c.(4894-4896)Gca>Tca	p.A1632S	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1816S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1632	Ig-like 17.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCCAGCACACAGGGA	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5446-5448)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38	39	39					1																	228456263		1990	4162	6152	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456263G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4894G>T	1.37:g.228456263G>T	ENSP00000409493:p.Ala1632Ser					OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1632S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A1816S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			19	5520	+		Prostate(94;0.0405)	803			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5446G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.074	0.381888	0.11524	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.60920	0.56;0.17;0.15	5.51	0.981	0.19756	Immunoglobulin-like (1);	0.182299	0.34156	N	0.004201	T	0.50309	0.1608	L	0.61218	1.895	0.19300	N	0.99998	B;P;B	0.42123	0.392;0.771;0.42	B;P;B	0.44422	0.262;0.449;0.205	T	0.43261	-0.9402	10	0.10636	T	0.68	.	7.8376	0.29378	0.2147:0.0:0.6674:0.118	.	1632;78;1632	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	S	1632;1632;288	ENSP00000284548:A1632S;ENSP00000409493:A1632S;ENSP00000352613:A288S	ENSP00000284548:A1632S	A	+	1	0	OBSCN	226522886	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	1.211000	0.32382	0.305000	0.22832	0.491000	0.48974	GCA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		61	176	1	0	1.11057e-38	1	1.33964e-38	61	176					T	228456263	G	T	228456263	3	4	79	1	0	0	0	0	1	0	0	0	10854	971	34	3	4956	3	OBSCN	1	228456263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11829	228456263	20794358	1884	12201											
OBSCN	84033	broad.mit.edu	37	chr1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggaggctgagggcGcctcatcctctgctgccctg	13	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000422127.1	+	20	5967	c.5923G>A	c.(5923-5925)Gcc>Acc	p.A1975T	OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2350T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1975	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGGGCGCCTCATCCTC	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7048-7050)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							24	29	28					1																	228462512		2125	4242	6367	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462512G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5923G>A	1.37:g.228462512G>A	ENSP00000409493:p.Ala1975Thr					OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1975T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A2350T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	7122	+		Prostate(94;0.0405)	1335			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7048G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105255	0.20632	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455816	0.21586	N	0.072167	T	0.54191	0.1843	L	0.37561	1.115	0.18873	N	0.999987	D;D	0.63880	0.958;0.993	B;B	0.44044	0.353;0.439	T	0.43556	-0.9384	10	0.14252	T	0.57	.	10.1739	0.42927	0.1597:0.0:0.8403:0.0	.	1975;1975	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1975;1975;822	ENSP00000284548:A1975T;ENSP00000409493:A1975T;ENSP00000352613:A822T	ENSP00000284548:A1975T	A	+	1	0	OBSCN	226529135	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.508000	0.22692	1.213000	0.43380	0.555000	0.69702	GCC		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	66	0	0	0	1	0	20	66					A	228462512	G	A	228462512	3	1	79	1	0	0	0	0	1	0	0	0	10854	1087	38	1	5997	1	OBSCN	1	228462512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6249	228462512	20788109	1885	12202											
OBSCN	84033	broad.mit.edu	37	chr1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctggtggtccgggaggCtgcaccaagtgatgccgggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000422127.1	+	31	8440	c.8396C>A	c.(8395-8397)gCt>gAt	p.A2799D	OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3228D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2799	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGGGAGGCTGCACCAAGT	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(9682-9684)gCt>gAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							34	40	38					1																	228469832		2016	4176	6192	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228469832C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8396C>A	1.37:g.228469832C>A	ENSP00000409493:p.Ala2799Asp					OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2799D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A3228D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			36	9757	+		Prostate(94;0.0405)	2262			Ig-like 32.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9683C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741893	0.30865	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.71103	-0.54;-0.54;-0.54	4.45	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.192642	0.34676	N	0.003775	D	0.83339	0.5233	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.80764	0.993;0.885;0.994	T	0.82165	-0.0592	10	0.66056	D	0.02	.	7.9133	0.29803	0.0:0.645:0.0:0.355	.	2799;2799;2799	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	D	2799;2799;1646;498;205	ENSP00000284548:A2799D;ENSP00000409493:A2799D;ENSP00000352613:A1646D	ENSP00000284548:A2799D	A	+	2	0	OBSCN	226536455	0.951000	0.32395	0.003000	0.11579	0.004000	0.04260	1.801000	0.38843	0.428000	0.26173	0.462000	0.41574	GCT		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	144	1	0	4.36969e-10	1	4.6211e-10	14	144					A	228469832	C	A	228469832	3	1	79	1	0	0	0	0	1	0	0	0	10854	797	28	3	8514	3	OBSCN	1	228469832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7320	228469832	20780789	1886	12203											
OBSCN	84033	broad.mit.edu	37	chr1	228471427	228471427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgacacctatacctgCgacattggccaggcccagtc	10	15	0	0	rs570299277		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2987	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.C3270C(1)|p.C3041C(1)	large_intestine(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10246-10248)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							47	54	51					1																	228471427		2071	4203	6274	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471427C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8961C>T	1.37:g.228471427C>T						OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C	p.C3416C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			38	10322	+		Prostate(94;0.0405)	2451			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10248C>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		81	302	0	0	0	1	0	81	302					T	228471427	C	T	228471427	2	4	79	1	0	0	0	0	0	0	0	1	10854	776	27	1		1	OBSCN	1	228471427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	228471427	20779194	1887	12204											
OBSCN	84033	broad.mit.edu	37	chr1	228476588	228476588	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccactctcaccgtgaaGggtaatgactgctcctggcc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000422127.1	+	38	10382	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000570156.2_Splice_Site_p.K3875N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3446					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTGAAGGGTAATGACT	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e43+1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							85	96	93					1																	228476588		2198	4282	6480	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228476588G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10339+1G>T	1.37:g.228476588G>T						OBSCN_ENST00000359599.6_Splice_Site_p.K2293_splice|OBSCN_ENST00000284548.11_Splice_Site_p.K3446_splice|OBSCN_ENST00000422127.1_Splice_Site_p.K3446_splice|OBSCN_ENST00000366709.4_Splice_Site_p.K565_splice|OBSCN_ENST00000366707.4_Splice_Site_p.K565_splice	p.K3875_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			43	11699	+		Prostate(94;0.0405)	2912			Ig-like 39.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.11626_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285858	0.23478	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.12	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205780	0.05700	N	0.593826	T	0.11324	0.0276	L	0.58354	1.805	0.19575	N	0.999969	D;B	0.55800	0.973;0.012	P;B	0.53401	0.725;0.009	T	0.27226	-1.0080	10	0.15952	T	0.53	.	1.1255	0.01734	0.2016:0.1401:0.4334:0.2249	.	3446;3446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	3446;3446;565;565;2293	ENSP00000284548:K3446N;ENSP00000409493:K3446N;ENSP00000355668:K565N;ENSP00000355670:K565N;ENSP00000352613:K2293N	ENSP00000284548:K3446N	K	+	3	2	OBSCN	226543211	0.001000	0.12720	0.850000	0.33497	0.115000	0.19883	-0.087000	0.11215	1.075000	0.40932	0.491000	0.48974	AAG		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	35	256	1	0	2.75727e-19	1	3.0731e-19	35	256					T	228476588	G	T	228476588	5	4	79	1	0	0	0	0	0	0	1	0	10854	1014	35	3	10484	3	OBSCN	1	228476588	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5161	228476588	20774033	1888	12205											
OBSCN	84033	broad.mit.edu	37	chr1	228481232	228481232	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggccaggtgtgagctgcaGatccgcggcctcgtggcaga	18	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000422127.1	+	41	11090	c.11046G>A	c.(11044-11046)caG>caA	p.Q3682Q	OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000570156.2_Silent_p.Q4111Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3682	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCGCGGCC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12331-12333)caG>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							96	103	101					1																	228481232		2183	4272	6455	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481232G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11046G>A	1.37:g.228481232G>A						OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000422127.1_Silent_p.Q3682Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q	p.Q4111Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12407	+		Prostate(94;0.0405)	3153			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12333G>A	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		85	425	0	0	0	1	0	85	425					A	228481232	G	A	228481232	2	1	79	1	0	0	0	0	0	0	0	1	10854	933	33	2		2	OBSCN	1	228481232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4644	228481232	20769389	1889	12206											
OBSCN	84033	broad.mit.edu	37	chr1	228494991	228494991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttcaagacccggcttcaGagtctggagcaggagacagg	14	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228494991G>T	ENST00000422127.1	+	46	12269	c.12225G>T	c.(12223-12225)caG>caT	p.Q4075H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5032H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4075	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGGCTTCAGAGTCTGGAGC	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15094-15096)caG>caT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							57	67	64					1																	228494991		2083	4207	6290	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494991G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12225G>T	1.37:g.228494991G>T	ENSP00000409493:p.Gln4075His					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4075H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H	p.Q5032H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			57	15170	+		Prostate(94;0.0405)	4075					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15096G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560875	0.27827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.81	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157695	0.41194	D	0.000931	T	0.60379	0.2264	L	0.61036	1.89	0.31867	N	0.620166	B;B	0.18461	0.028;0.002	B;B	0.18263	0.021;0.005	T	0.62393	-0.6864	10	0.37606	T	0.19	.	10.4175	0.44331	0.1334:0.0:0.7494:0.1172	.	4075;4075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4075;4075;1709;1194	ENSP00000284548:Q4075H;ENSP00000409493:Q4075H;ENSP00000355668:Q1709H;ENSP00000355670:Q1194H	ENSP00000284548:Q4075H	Q	+	3	2	OBSCN	226561614	1.000000	0.71417	0.816000	0.32577	0.006000	0.05464	2.919000	0.48836	0.786000	0.33708	0.462000	0.41574	CAG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		10	422	1	0	4.68919e-08	1	4.88816e-08	10	422					T	228494991	G	T	228494991	3	4	79	1	0	0	0	0	1	0	0	0	10854	933	33	3	12403	3	OBSCN	1	228494991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13759	228494991	20755630	1890	12207											
OBSCN	84033	broad.mit.edu	37	chr1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagcctctgaaaaacGcggcggtccgggccggcgca	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228504445G>A	ENST00000422127.1	+	51	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16192-16194)Gcg>Acg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12	16	15					1																	228504445		1985	4141	6126	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228504445G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13321G>A	1.37:g.228504445G>A	ENSP00000409493:p.Ala4441Thr					OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	p.A5398T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			62	16266	+		Prostate(94;0.0405)	4441			Ig-like 51.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16192G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.773100	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76060	-0.99;-0.99;0.14;0.65	5.14	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.577390	0.03472	N	0.213753	T	0.56321	0.1977	N	0.16708	0.43	0.09310	N	1	B;B	0.21381	0.0;0.055	B;B	0.10450	0.0;0.005	T	0.36456	-0.9747	10	0.21014	T	0.42	.	4.1581	0.10270	0.2792:0.0:0.4727:0.2481	.	4441;4441	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4441;4441;2075;1560	ENSP00000284548:A4441T;ENSP00000409493:A4441T;ENSP00000355668:A2075T;ENSP00000355670:A1560T	ENSP00000284548:A4441T	A	+	1	0	OBSCN	226571068	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.003000	0.29809	0.183000	0.20059	-0.247000	0.11927	GCG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	158	0	0	0	1	0	7	158					A	228504445	G	A	228504445	3	1	79	1	0	0	0	0	1	0	0	0	10854	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9454	228504445	20746176	1891	12208											
OBSCN	84033	broad.mit.edu	37	chr1	228511297	228511297	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctccaccaaggctgagctCcgtgtggactgtgagtactg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000422127.1	+	56	15686	c.15642C>T	c.(15640-15642)ctC>ctT	p.L5214L	OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000570156.2_Silent_p.L6171L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5214	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGCTCCGTGTGGACT	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18511-18513)ctC>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63	65	64					1																	228511297		2166	4269	6435	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511297C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15642C>T	1.37:g.228511297C>T						OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000422127.1_Silent_p.L5214L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L	p.L6171L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			67	18587	+		Prostate(94;0.0405)	5214			Ig-like 53.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18513C>T	CCDS58065.1																																																																																				0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	73	0	0	0	1	0	16	73					T	228511297	C	T	228511297	2	4	79	1	0	0	0	0	0	0	0	1	10854	842	30	2		2	OBSCN	1	228511297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6852	228511297	20739324	1892	12209											
OBSCN	84033	broad.mit.edu	37	chr1	228525846	228525846	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacaggaggctcaagGtatctgaatggccaggcagg	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000422127.1	+	67	17045		c.e67+1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTCAAGGTATCTGAATG	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e78+1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							17	18	18					1																	228525846		1947	4131	6078	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228525846G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17001+1G>A	1.37:g.228525846G>A						OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site		NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			78	19946	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710945	0.68730	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226592469	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.531000	0.98054	2.324000	0.78689	0.491000	0.48974	.		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	33	98	0	0	0	1	0	33	98					A	228525846	G	A	228525846	5	1	79	1	0	0	0	0	0	0	1	0	10854	1275	44	2	17264	2	OBSCN	1	228525846	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14549	228525846	20724775	1893	12210											
OBSCN	84033	broad.mit.edu	37	chr1	228547313	228547313	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagaagagaccatcacCactgtggtgaagagcccacg	11	13	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547313C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Silent_p.T6240T|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCATCACCACTGTGGTGA	0.647																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18718-18720)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16	21	19					1																	228547313		2142	4246	6388	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547313C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2964C>T	1.37:g.228547313C>T						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000366707.4_Intron	p.T6240T			Q5VST9	OBSCN_HUMAN			81	18794	+		Prostate(94;0.0405)	6240					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18720C>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	48	0	0	0	1	0	7	48					T	228547313	C	T	228547313	1	4	79	0	1	0	0	0	0	0	0	0	10854	581	21	2		2	OBSCN	1	228547313	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21467	228547313	20703308	1894	12211											
OBSCN	84033	broad.mit.edu	37	chr1	228547333	228547333	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtggtgaagagcccacGtggccaacgacggtccccca	12	15	0	2	rs372929522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547333G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.R6247H|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGAGCCCACGTGGCCAACGA	0.672																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18739-18741)cGt>cAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18	23	21					1																	228547333		2108	4228	6336	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547333G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2944G>A	1.37:g.228547333G>A						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000366707.4_Intron	p.R6247H			Q5VST9	OBSCN_HUMAN			81	18814	+		Prostate(94;0.0405)	6248					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18740G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101248	0.76983	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.59502	0.26;0.43	4.56	3.65	0.41850	.	.	.	.	.	T	0.55970	0.1954	M	0.73598	2.24	0.30079	N	0.80936	B	0.30793	0.295	B	0.22880	0.042	T	0.58103	-0.7695	9	0.46703	T	0.11	.	12.9453	0.58369	0.0789:0.0:0.9211:0.0	.	6247	Q5VST9-3	.	H	6247;3366	ENSP00000284548:R6247H;ENSP00000355670:R3366H	ENSP00000284548:R6247H	R	+	2	0	OBSCN	226613956	1.000000	0.71417	0.303000	0.25071	0.002000	0.02628	5.564000	0.67359	1.155000	0.42497	-0.264000	0.10439	CGT		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	52	0	0	0	1	0	7	52					A	228547333	G	A	228547333	1	1	79	0	1	0	0	0	0	0	0	0	10854	1145	40	1		1	OBSCN	1	228547333	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	228547333	20703288	1895	12212											
OBSCN	84033	broad.mit.edu	37	chr1	228550349	228550349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccccaaggcgccagGcccctccacaggggacctca	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228550349G>A	ENST00000422127.1	+	80	18778	c.18734G>A	c.(18733-18735)gGc>gAc	p.G6245D	OBSCN_ENST00000570156.2_Missense_Mutation_p.G7202D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6245					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGCCAGGCCCCTCCACA	0.677																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21604-21606)gGc>gAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							30	33	32					1																	228550349		1896	4116	6012	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228550349G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18734G>A	1.37:g.228550349G>A	ENSP00000409493:p.Gly6245Asp					OBSCN_ENST00000422127.1_Missense_Mutation_p.G6245D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D	p.G7202D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			91	21679	+		Prostate(94;0.0405)	6245					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.21605G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147125	0.37923	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.06	2.17	0.27698	.	0.329473	0.31601	N	0.007373	T	0.40040	0.1101	L	0.27053	0.805	0.09310	N	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.15435	-1.0437	10	0.11794	T	0.64	.	5.6793	0.17765	0.3585:0.0:0.6415:0.0	.	6245	Q5VST9	OBSCN_HUMAN	D	6245;3879	ENSP00000409493:G6245D;ENSP00000355668:G3879D	ENSP00000355668:G3879D	G	+	2	0	OBSCN	226616972	0.003000	0.15002	0.009000	0.14445	0.030000	0.12068	0.752000	0.26362	0.494000	0.27859	0.491000	0.48974	GGC		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	201	0	0	0	1	0	6	201					A	228550349	G	A	228550349	3	1	79	1	0	0	0	0	1	0	0	0	10854	1203	42	2	20258	2	OBSCN	1	228550349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3016	228550349	20700272	1896	12213											
OBSCN	84033	broad.mit.edu	37	chr1	228553839	228553839	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcggaacggcccaattCgaggctatcattgagggcga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000422127.1	+	83	19172	c.19128C>T	c.(19126-19128)ttC>ttT	p.F6376F	OBSCN_ENST00000570156.2_Silent_p.F7333F|OBSCN_ENST00000366707.4_Silent_p.F4010F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6376	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCCAATTCGAGGCTATCA	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21997-21999)ttC>ttT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							78	84	82					1																	228553839		2083	4206	6289	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228553839C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19128C>T	1.37:g.228553839C>T						OBSCN_ENST00000422127.1_Silent_p.F6376F|OBSCN_ENST00000366707.4_Silent_p.F4010F	p.F7333F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			94	22073	+		Prostate(94;0.0405)	6376					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.21999C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280365	0.23392	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.617	0.39698	0.0:0.4472:0.0:0.5528	.	.	.	.	X	993	.	.	R	+	1	2	OBSCN	226620462	0.003000	0.15002	0.976000	0.42696	0.151000	0.21798	-0.314000	0.08092	0.112000	0.17975	0.313000	0.20887	CGA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		69	342	0	0	0	1	0	69	342					T	228553839	C	T	228553839	2	4	79	1	0	0	0	0	0	0	0	1	10854	883	31	1		1	OBSCN	1	228553839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3490	228553839	20696782	1897	12214											
OBSCN	84033	broad.mit.edu	37	chr1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcacccacttggcccCtggccacagccactccctgg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000422127.1	+	94	20917	c.20873C>A	c.(20872-20874)cCt>cAt	p.P6958H	OBSCN_ENST00000570156.2_Missense_Mutation_p.P7915H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6958					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTTGGCCCCTGGCCACAGC	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23743-23745)cCt>cAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							9	14	12					1																	228559352		1930	3987	5917	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559352C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20873C>A	1.37:g.228559352C>A	ENSP00000409493:p.Pro6958His					OBSCN_ENST00000422127.1_Missense_Mutation_p.P6958H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H	p.P7915H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23818	+		Prostate(94;0.0405)	6958			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23744C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577488	0.45902	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63096	-0.02;0.03	3.97	3.03	0.35002	.	.	.	.	.	T	0.49881	0.1583	L	0.27053	0.805	0.23221	N	0.998097	B	0.17465	0.022	B	0.14023	0.01	T	0.47459	-0.9116	9	0.62326	D	0.03	.	12.4621	0.55736	0.0:0.8299:0.1701:0.0	.	6958	Q5VST9	OBSCN_HUMAN	H	6958;4592	ENSP00000409493:P6958H;ENSP00000355668:P4592H	ENSP00000355668:P4592H	P	+	2	0	OBSCN	226625975	0.019000	0.18553	0.003000	0.11579	0.096000	0.18686	1.722000	0.38042	0.854000	0.35336	0.484000	0.47621	CCT		0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	136	1	0	2.32416e-17	1	2.56562e-17	19	136					A	228559352	C	A	228559352	3	1	79	1	0	0	0	0	1	0	0	0	10854	681	24	3	22453	3	OBSCN	1	228559352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5513	228559352	20691269	1898	12215											
OBSCN	84033	broad.mit.edu	37	chr1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T													aggcctgcggtgaggcacagCgactgccttcagccccctcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000422127.1	+	94	20994	c.20950C>T	c.(20950-20952)Cga>Tga	p.R6984*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R7941*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6984	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCACAGCGACTGCCTTC	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23821-23823)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15	19	18					1																	228559429		1923	4075	5998	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559429C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20950C>T	1.37:g.228559429C>T	ENSP00000409493:p.Arg6984*					OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R6984*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*	p.R7941*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23895	+		Prostate(94;0.0405)	6984					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.23821C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.473702|83.473702	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	4.69|4.69	-8.05|-8.05	0.01106|0.01106	.|.	.|.	.|.	.|.	.|.	T|.	0.15652|.	0.0377|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	4|.	.|0.13470	.|T	.|0.59	.|.	7.8603|7.8603	0.29506|0.29506	0.0:0.3:0.4273:0.2728|0.0:0.3:0.4273:0.2728	.|.	.|.	.|.	.|.	V|X	1600|6984;4618	.|.	.|ENSP00000355668:R4618X	A|R	+|+	2|1	0|2	OBSCN|OBSCN	226626052|226626052	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.111000|0.111000	0.15458|0.15458	-1.059000|-1.059000	0.03193|0.03193	-1.102000|-1.102000	0.02115|0.02115	GCG|CGA		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		40	205	0	0	0	1	0	40	205					T	228559429	C	T	228559429	4	4	79	1	0	0	0	0	0	1	0	0	10854	760	27	1	22530	1	OBSCN	1	228559429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	228559429	20691192	1899	12216	77	2									
OBSCN	84033	broad.mit.edu	37	chr1	228559432	228559432	+	Silent	SNP	C	C	T													cctgcggtgaggcacagcgaCtgccttcagccccctccggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000422127.1	+	94	20997	c.20953C>T	c.(20953-20955)Ctg>Ttg	p.L6985L	OBSCN_ENST00000570156.2_Silent_p.L7942L|OBSCN_ENST00000366707.4_Silent_p.L4619L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6985	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCACAGCGACTGCCTTCAGC	0.692																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23824-23826)Ctg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16	19	18					1																	228559432		1906	4066	5972	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559432C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20953C>T	1.37:g.228559432C>T						OBSCN_ENST00000422127.1_Silent_p.L6985L|OBSCN_ENST00000366707.4_Silent_p.L4619L	p.L7942L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23898	+		Prostate(94;0.0405)	6985					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23824C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381544	0.24944	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.69	-0.906	0.10524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.1631	0.01810	0.2763:0.291:0.2699:0.1629	.	.	.	.	I	1601	.	.	T	+	2	0	OBSCN	226626055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.330000	0.08514	-0.320000	0.08662	ACT		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		43	200	0	0	0	1	0	43	200					T	228559432	C	T	228559432	2	4	79	1	0	0	0	0	0	0	0	1	10854	564	20	2		2	OBSCN	1	228559432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	228559432	20691189	1900	12217	77	2									
OBSCN	84033	broad.mit.edu	37	chr1	228565678	228565678	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgttccacagacagacatCtgggccatcggtgtgacagc	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000422127.1	+	103	23594	c.23550C>A	c.(23548-23550)atC>atA	p.I7850I	OBSCN_ENST00000570156.2_Silent_p.I8805I|OBSCN_ENST00000366707.4_Silent_p.I5484I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7850	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACAGACATCTGGGCCATCG	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(26413-26415)atC>atA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							75	81	79					1																	228565678		2048	4204	6252	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228565678C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23550C>A	1.37:g.228565678C>A						OBSCN_ENST00000422127.1_Silent_p.I7850I|OBSCN_ENST00000366707.4_Silent_p.I5484I	p.I8805I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			114	26489	+		Prostate(94;0.0405)	7850					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.26415C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356963	0.41801	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.17	3.11	0.35812	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55010	-0.8207	4	.	.	.	.	9.1082	0.36712	0.0:0.7162:0.1335:0.1503	.	.	.	.	M	2465	.	.	L	+	1	2	OBSCN	226632301	0.916000	0.31088	0.999000	0.59377	0.670000	0.39368	0.070000	0.14573	1.143000	0.42306	0.313000	0.20887	CTG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	202	1	0	5.35267e-07	1	5.54261e-07	19	202					A	228565678	C	A	228565678	2	1	79	1	0	0	0	0	0	0	0	1	10854	903	32	3		3	OBSCN	1	228565678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6246	228565678	20684943	1901	12218											
TRIM17	51127	broad.mit.edu	37	chr1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagaaaggctgcagggGgcctgggaaggtggcctggg	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	451	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1351-1353)Ccc>Tcc		tripartite motif containing 17							68	75	73					1																	228595985		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228595985G>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1351C>T	1.37:g.228595985G>A	ENSP00000355658:p.Pro451Ser					TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S	p.P451S			Q9Y577	TRI17_HUMAN			6	2307	-		Prostate(94;0.0724)	451			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1351C>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689834	0.48097	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43260	D	0.000592	T	0.73837	0.3638	M	0.67700	2.07	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.76138	-0.3069	10	0.59425	D	0.04	.	16.4366	0.83877	0.0:0.0:1.0:0.0	.	451	Q9Y577	TRI17_HUMAN	S	451	ENSP00000355658:P451S;ENSP00000355659:P451S;ENSP00000295033:P451S	ENSP00000295033:P451S	P	-	1	0	TRIM17	226662608	0.182000	0.23173	0.992000	0.48379	0.495000	0.33615	2.066000	0.41452	2.642000	0.89623	0.655000	0.94253	CCC		0.592	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		146	387	0	0	0	1	0	146	387					A	228595985	G	A	228595985	3	1	79	1	0	0	0	0	1	0	0	0	16546	1232	43	2	86	2	TRIM17	1	228595985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30307	228595985	20654636	1902	12219											
TRIM17	51127	broad.mit.edu	37	chr1	228596798	228596798	+	Intron	DEL	C	C	-													accccccccattggtggcttCcgaggctagggggtacagtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228596798delC	ENST00000366697.2	-	5	1840				TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.E320fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGTGGCTTCCGAGGCTAGG	0.577																																						ENST00000456946.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(958-960)aafs		tripartite motif containing 17							43	56	52					1																	228596798		692	1591	2283	SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596798delC	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+74G>-	1.37:g.228596798delC						TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	p.E320fs	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1333	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Frame_Shift_Del	DEL	ENST00000366697.2	37	c.958delG	CCDS1571.1																																																																																				0.577	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		43	211						43	211	---	---	---	---	-	228596798	C	-	228596798	6	5	79	0	1	1	0	1	0	0	0	0	16546	864	30	0		0	TRIM17	1	228596798	Intron	DEL	C	TCGA-IB-7651-01A-11D-2154-08	813	228596798	20653823	1903	12220											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggcacactacaacaaGcgctccaccatcacgtcccg	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	86					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647																																						ENST00000369160.2																			0				skin(1)	1						c.(256-258)aaG>aaT		histone cluster 3, H2bb							91	83	86					1																	228646088		2203	4300	6503	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646088G>T	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.258G>T	1.37:g.228646088G>T	ENSP00000375736:p.Lys86Asn						p.K86N	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	281	+		Prostate(94;0.183)	86					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.258G>T	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510202	0.85282	.	.	ENSG00000196890	ENST00000369160	T	0.75050	-0.9	3.94	3.03	0.35002	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000008	D	0.82788	0.5113	M	0.85542	2.76	0.54753	D	0.999986	P	0.52692	0.955	P	0.56278	0.795	D	0.84800	0.0784	10	0.87932	D	0	.	10.1856	0.42995	0.1001:0.0:0.8999:0.0	.	86	Q8N257	H2B3B_HUMAN	N	86	ENSP00000375736:K86N	ENSP00000375736:K86N	K	+	3	2	HIST3H2BB	226712711	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.186000	0.58337	1.250000	0.43966	-0.225000	0.12378	AAG		0.647	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		115	551	1	0	2.96211e-45	1	3.63119e-45	115	551					T	228646088	G	T	228646088	3	4	79	1	0	0	0	0	1	0	0	0	7213	962	34	3	260	3	HIST3H2BB	1	228646088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49290	228646088	20604533	1904	12221											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggccaagcacgccgtgTccgagggcaccaaggctgtc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	113					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637																																						ENST00000369160.2																			0				skin(1)	1						c.(337-339)Tcc>Ccc		histone cluster 3, H2bb							56	56	56					1																	228646167		2203	4298	6501	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646167T>C	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.337T>C	1.37:g.228646167T>C	ENSP00000375736:p.Ser113Pro						p.S113P	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	360	+		Prostate(94;0.183)	113					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.337T>C	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.639928	0.67244	.	.	ENSG00000196890	ENST00000369160	T	0.46063	0.88	3.72	3.72	0.42706	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.84511	2.7	0.58432	D	0.999996	B	0.24576	0.106	B	0.21546	0.035	T	0.55698	-0.8100	10	0.66056	D	0.02	.	11.0805	0.48057	0.0:0.0:0.0:1.0	.	113	Q8N257	H2B3B_HUMAN	P	113	ENSP00000375736:S113P	ENSP00000375736:S113P	S	+	1	0	HIST3H2BB	226712790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.617000	0.67716	1.926000	0.55796	0.477000	0.44152	TCC		0.637	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		118	353	0	0	0	1	0	118	353					C	228646167	T	C	228646167	3	2	79	1	0	0	0	0	1	0	0	0	7213	1667	58	4	339	4	HIST3H2BB	1	228646167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	228646167	20604454	1905	12222											
RAB4A	5867	broad.mit.edu	37	chr1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagatgcccgaatgctagCgagccagaacattgtgatca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	115					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAATGCTAGCGAGCCAGAAC	0.388																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(343-345)gCg>gTg		RAB4A, member RAS oncogene family							128	121	124					1																	229433282		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229433282C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.344C>T	1.37:g.229433282C>T	ENSP00000355651:p.Ala115Val					RAB4A_ENST00000473894.1_3'UTR	p.A115V	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN			5	552	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	110					Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.344C>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295386	0.81025	.	.	ENSG00000168118	ENST00000366690	T	0.77358	-1.09	5.48	4.57	0.56435	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57130	1.785	0.80722	D	1	P	0.45176	0.852	B	0.41946	0.371	T	0.78750	-0.2082	10	0.72032	D	0.01	.	14.3666	0.66810	0.0:0.9287:0.0:0.0713	.	110	P20338	RAB4A_HUMAN	V	115	ENSP00000355651:A115V	ENSP00000355651:A115V	A	+	2	0	RAB4A	227499905	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	7.818000	0.86416	1.294000	0.44707	0.655000	0.94253	GCG		0.388	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		35	625	0	0	0	1	0	35	625					T	229433282	C	T	229433282	3	4	79	1	0	0	0	0	1	0	0	0	12996	768	27	1	362	1	RAB4A	1	229433282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787115	229433282	19817339	1906	12223											
ACTA1	58	broad.mit.edu	37	chr1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgttctcgaagtccaggGccacgtagcacagcttctcc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	222					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GAAGTCCAGGGCCACGTAGCA	0.657																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(664-666)gCc>gTc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						43	36	38					1																	229567884		2203	4299	6502	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567884G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.665C>T	1.37:g.229567884G>A	ENSP00000355645:p.Ala222Val					ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	p.A222V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			5	767	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	222					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.665C>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753071	0.69648	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94613	-3.47;-3.47	4.28	4.28	0.50868	.	0.065554	0.64402	D	0.000018	D	0.97629	0.9223	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98786	1.0734	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	222	P68133	ACTS_HUMAN	V	222;132;134;187	ENSP00000355645:A222V;ENSP00000355644:A134V	ENSP00000312351:A132V	A	-	2	0	ACTA1	227634507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	GCC		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		40	190	0	0	0	1	0	40	190					A	229567884	G	A	229567884	3	1	79	1	0	0	0	0	1	0	0	0	191	1203	42	2	480	2	ACTA1	1	229567884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134602	229567884	19682737	1907	12224											
ACTA1	58	broad.mit.edu	37	chr1	229568761	229568761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggcggcccacgatggaCgggaacacggccctaggggc	19	13	0	0	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	34					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCACGATGGACGGGAACACGG	0.721																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(100-102)ccG>ccA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)	C		0,4404		0,0,2202	28	31	30		102	-9.4	0.1	1	dbSNP_134	30	1,8595		0,1,4297	no	coding-synonymous	ACTA1	NM_001100.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		34/378	229568761	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568761C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.102G>A	1.37:g.229568761C>T						ACTA1_ENST00000366683.2_Silent_p.P34P	p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	204	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	34					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.102G>A	CCDS1578.1																																																																																				0.721	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		103	281	0	0	0	1	0	103	281					T	229568761	C	T	229568761	2	4	79	1	0	0	0	0	0	0	0	1	191	523	19	1		1	ACTA1	1	229568761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877	229568761	19681860	1908	12225											
ACTA1	58	broad.mit.edu	37	chr1	229568793	229568793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggggcgtcatccccggCgaagccggctttcaccaggc	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568793C>T	ENST00000366684.3	-	2	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	24					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCATCCCCGGCGAAGCCGGCT	0.682																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(70-72)Gcc>Acc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						45	48	47					1																	229568793		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568793C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.70G>A	1.37:g.229568793C>T	ENSP00000355645:p.Ala24Thr					ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	172	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	24					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.70G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407632	0.42715	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97186	-4.28;-4.28	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.98466	4.24	0.29136	N	0.879301	P	0.36315	0.547	P	0.44597	0.454	D	0.96399	0.9295	10	0.87932	D	0	.	12.1436	0.54012	0.0:0.9149:0.0:0.0851	.	24	P68133	ACTS_HUMAN	T	24	ENSP00000355645:A24T;ENSP00000355644:A24T	ENSP00000312351:A24T	A	-	1	0	ACTA1	227635416	1.000000	0.71417	0.982000	0.44146	0.046000	0.14306	7.638000	0.83328	1.230000	0.43646	0.655000	0.94253	GCC		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		16	475	0	0	0	1	0	16	475					T	229568793	C	T	229568793	3	4	79	1	0	0	0	0	1	0	0	0	191	768	27	1	1087	1	ACTA1	1	229568793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32	229568793	19681828	1909	12226											
ABCB10	23456	broad.mit.edu	37	chr1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaccacagtgttgaaccCttgggggaaattccggatga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	622	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438). {ECO:0000305}.	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)			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)				GTGTTGAACCCTTGGGGGAAA	0.478																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1864-1866)Ggg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 10							128	138	135					1																	229661725		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229661725C>A	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.1864G>T	1.37:g.229661725C>A	ENSP00000355637:p.Gly622Trp						p.G622W	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			10	1906	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	622	FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		ABC transporter.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1864G>T	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484617	0.84854	.	.	ENSG00000135776	ENST00000344517	D	0.85955	-2.05	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.8303	18.7182	0.91684	0.0:1.0:0.0:0.0	.	622	Q9NRK6	ABCBA_HUMAN	W	622	ENSP00000355637:G622W	ENSP00000355637:G622W	G	-	1	0	ABCB10	227728348	1.000000	0.71417	0.348000	0.25681	0.799000	0.45148	7.814000	0.86154	2.475000	0.83589	0.591000	0.81541	GGG		0.478	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		110	988	1	0	7.30236e-35	1	8.69941e-35	110	988					A	229661725	C	A	229661725	3	1	79	1	0	0	0	0	1	0	0	0	41	681	24	3	368	3	ABCB10	1	229661725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92932	229661725	19588896	1910	12227											
ABCB10	23456	broad.mit.edu	37	chr1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcaggtttccggagaGcccagtctgtcgaatgaaga	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	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)			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)				TTTCCGGAGAGCCCAGTCTGT	0.493																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1210-1212)Ctc>Atc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							60	60	60					1																	229675332		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229675332G>T	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.1210C>A	1.37:g.229675332G>T	ENSP00000355637:p.Leu404Ile						p.L404I	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			6	1252	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	404			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1210C>A	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211720	0.79240	.	.	ENSG00000135776	ENST00000344517	D	0.90900	-2.75	5.25	5.25	0.73442	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	0.89532	0.6742	L	0.45698	1.435	0.80722	D	1	B	0.09022	0.002	B	0.31290	0.127	D	0.84821	0.0796	10	0.32370	T	0.25	-23.9756	19.2149	0.93772	0.0:0.0:1.0:0.0	.	404	Q9NRK6	ABCBA_HUMAN	I	404	ENSP00000355637:L404I	ENSP00000355637:L404I	L	-	1	0	ABCB10	227741955	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	6.055000	0.71103	2.619000	0.88677	0.655000	0.94253	CTC		0.493	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		61	341	1	0	7.92265e-33	1	9.37054e-33	61	341					T	229675332	G	T	229675332	3	4	79	1	0	0	0	0	1	0	0	0	41	971	34	3	1038	3	ABCB10	1	229675332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13607	229675332	19575289	1911	12228											
TAF5L	27097	broad.mit.edu	37	chr1	229738419	229738419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctgtcttcttggagacgGaccacgtacttgttatctag	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366676.1	-	3	494	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366675.3_Silent_p.V165V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	165					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(493-495)gtC>gtT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							200	190	193					1																	229738419		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738419G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.495C>T	1.37:g.229738419G>A						TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366676.1_Silent_p.V165V	p.V165V	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	583	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	165					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.495C>T	CCDS1581.1																																																																																				0.463	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		53	590	0	0	0	1	0	53	590					A	229738419	G	A	229738419	2	1	79	1	0	0	0	0	0	0	0	1	15581	1161	41	2		2	TAF5L	1	229738419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63087	229738419	19512202	1912	12229											
URB2	9816	broad.mit.edu	37	chr1	229773865	229773865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggagttgccagctctcGcgggacatgatcagtctttt	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229773865G>A	ENST00000258243.2	+	4	3641	c.3505G>A	c.(3505-3507)Gcg>Acg	p.A1169T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1169						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCAGCTCTCGCGGGACATGA	0.522																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3505-3507)Gcg>Acg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							138	141	140					1																	229773865		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773865G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3505G>A	1.37:g.229773865G>A	ENSP00000258243:p.Ala1169Thr						p.A1169T	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3641	+			1169					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3505G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580204	0.28180	.	.	ENSG00000135763	ENST00000258243	T	0.31510	1.49	5.65	1.83	0.25207	.	0.663319	0.15700	N	0.248971	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.24119	-1.0169	9	.	.	.	-1.6535	6.2627	0.20910	0.2396:0.0:0.6339:0.1265	.	1169	Q14146	URB2_HUMAN	T	1169	ENSP00000258243:A1169T	.	A	+	1	0	URB2	227840488	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.662000	0.37418	0.149000	0.19098	0.585000	0.79938	GCG		0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		15	449	0	0	0	1	0	15	449					A	229773865	G	A	229773865	3	1	79	1	0	0	0	0	1	0	0	0	17079	1087	38	1	3515	1	URB2	1	229773865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35446	229773865	19476756	1913	12230											
URB2	9816	broad.mit.edu	37	chr1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgtgttggaggtacagAaggtaaaattgggttcaatg	14	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1459						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGGTACAGAAGGTAAAATT	0.478																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4375-4377)Aag>Gag		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							233	198	210					1																	229790133		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229790133A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4375A>G	1.37:g.229790133A>G	ENSP00000258243:p.Lys1459Glu						p.K1459E	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			9	4511	+			1459					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4375A>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769447	0.69992	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092536	0.85682	D	0.000000	T	0.54743	0.1877	L	0.41824	1.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	9	.	.	.	-29.2915	14.9107	0.70755	1.0:0.0:0.0:0.0	.	1459	Q14146	URB2_HUMAN	E	1459;75	ENSP00000258243:K1459E;ENSP00000395107:K75E	.	K	+	1	0	URB2	227856756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.236000	0.89805	1.976000	0.57569	0.528000	0.53228	AAG		0.478	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		10	414	0	0	0	1	0	10	414					G	229790133	A	G	229790133	3	3	79	1	0	0	0	0	1	0	0	0	17079	247	9	4	4405	4	URB2	1	229790133	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16268	229790133	19460488	1914	12231											
URB2	9816	broad.mit.edu	37	chr1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaaggccaaacatgaagGagagaaaagatatacggcct	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1518						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACATGAAGGAGAGAAAAGA	0.507																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4552-4554)gGa>gAa		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							104	110	108					1																	229795022		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229795022G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4553G>A	1.37:g.229795022G>A	ENSP00000258243:p.Gly1518Glu						p.G1518E	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			10	4689	+			1518					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4553G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282062	0.80692	.	.	ENSG00000135763	ENST00000258243	T	0.50548	0.74	5.5	5.5	0.81552	.	0.050544	0.85682	D	0.000000	T	0.63046	0.2478	M	0.61703	1.905	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.61695	-0.7010	9	.	.	.	-11.8818	14.6098	0.68507	0.0:0.1456:0.8543:0.0	.	1518	Q14146	URB2_HUMAN	E	1518	ENSP00000258243:G1518E	.	G	+	2	0	URB2	227861645	1.000000	0.71417	0.663000	0.29738	0.965000	0.64279	6.264000	0.72527	2.576000	0.86940	0.650000	0.86243	GGA		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		189	591	0	0	0	1	0	189	591					A	229795022	G	A	229795022	3	1	79	1	0	0	0	0	1	0	0	0	17079	1174	41	2	4587	2	URB2	1	229795022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4889	229795022	19455599	1915	12232											
GALNT2	2590	broad.mit.edu	37	chr1	230391082	230391082	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgggtggcagtggcactgtCtttgcccggtaagtagtgaa	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230391082C>A	ENST00000366672.4	+	11	1200	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	GALNT2_ENST00000543760.1_Silent_p.V338V|GALNT2_ENST00000541865.1_Missense_Mutation_p.L252I	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	376					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTGGCACTGTCTTTGCCCGGT	0.582																																						ENST00000541865.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(754-756)Ctt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							135	103	114					1																	230391082		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391082C>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1128C>A	1.37:g.230391082C>A						GALNT2_ENST00000543760.1_Silent_p.V338V|GALNT2_ENST00000366672.4_Silent_p.V376V	p.L252I			Q10471	GALT2_HUMAN			9	940	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	0					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.754C>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420611	0.04734	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	1.93	0.25924	.	.	.	.	.	T	0.20861	0.0502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07139	-1.0788	6	0.10902	T	0.67	.	0.7754	0.01031	0.3337:0.2675:0.2233:0.1756	.	.	.	.	I	252	ENSP00000444346:L252I	ENSP00000444346:L252I	L	+	1	0	GALNT2	228457705	0.984000	0.35163	1.000000	0.80357	0.959000	0.62525	0.146000	0.16180	0.514000	0.28300	-0.261000	0.10672	CTT		0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		15	393	1	0	1.62849e-17	1	1.79894e-17	15	393					A	230391082	C	A	230391082	2	1	79	1	0	0	0	0	0	0	0	1	6241	900	32	3		3	GALNT2	1	230391082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596060	230391082	18859539	1916	12233											
GALNT2	2590	broad.mit.edu	37	chr1	230398351	230398351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagaggtctggatggAtgaatacaaaaatttctatt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230398351A>G	ENST00000366672.4	+	12	1241	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_Silent_p.G265G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	390					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCTGGATGGATGAATACAAA	0.433																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1168-1170)gAt>gGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							136	158	151					1																	230398351		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230398351A>G	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1169A>G	1.37:g.230398351A>G	ENSP00000355632:p.Asp390Gly					GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|GALNT2_ENST00000541865.1_Silent_p.G265G|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	p.D390G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			12	1241	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	390					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1169A>G	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386202	0.82902	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.71579	-0.58;-0.58	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.91920	3.255	0.80722	D	1	P;P	0.52577	0.924;0.954	B;P	0.49252	0.4;0.604	D	0.86630	0.1885	10	0.87932	D	0	.	14.5694	0.68202	1.0:0.0:0.0:0.0	.	390;352	Q10471;G3V1S6	GALT2_HUMAN;.	G	352;390;271	ENSP00000445017:D352G;ENSP00000355632:D390G	ENSP00000355632:D390G	D	+	2	0	GALNT2	228464974	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	9.268000	0.95675	1.906000	0.55180	0.379000	0.24179	GAT		0.433	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		19	1349	0	0	0	1	0	19	1349					G	230398351	A	G	230398351	3	3	79	1	0	0	0	0	1	0	0	0	6241	333	12	4	1215	4	GALNT2	1	230398351	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7269	230398351	18852270	1917	12234											
GALNT2	2590	broad.mit.edu	37	chr1	230415072	230415072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacagatcgagggcaaCtccaagctgaggcacgtggg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCGAGGGCAACTCCAAGCTGA	0.587																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1582-1584)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							69	62	65					1																	230415072		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415072C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1584C>T	1.37:g.230415072C>T						GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR	p.N528N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			16	1656	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	528			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.1584C>T	CCDS1582.1																																																																																				0.587	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		78	200	0	0	0	1	0	78	200					T	230415072	C	T	230415072	2	4	79	1	0	0	0	0	0	0	0	1	6241	564	20	2		2	GALNT2	1	230415072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16721	230415072	18835549	1918	12235											
PGBD5	79605	broad.mit.edu	37	chr1	230468691	230468691	+	Frame_Shift_Del	DEL	C	C	-													tcatcttgatttggtactggCcccgggccgggggtgtggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230468691delC	ENST00000525115.1	-	5	988	c.965delG	c.(964-966)ggcfs	p.G322fs	PGBD5_ENST00000391860.1_Frame_Shift_Del_p.G276fs|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000321327.2_Frame_Shift_Del_p.G421fs			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	322						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTGGTACTGGCCCCGGGCCGG	0.607																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1261-1263)gcfs		piggyBac transposable element derived 5							111	99	103					1																	230468691		2203	4300	6503	SO:0001589	frameshift_variant	79605					integral to membrane		g.chr1:230468691delC	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.965delG	1.37:g.230468691delC	ENSP00000431404:p.Gly322fs					PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Frame_Shift_Del_p.G276fs|PGBD5_ENST00000525115.1_Frame_Shift_Del_p.G322fs	p.G421fs			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	7	1261	-	Breast(184;0.0397)	Prostate(94;0.167)	322					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Frame_Shift_Del	DEL	ENST00000525115.1	37	c.1262delG																																																																																					0.607	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	307						15	307	---	---	---	---	-	230468691	C	-	230468691	7	5	79	1	0	1	0	1	0	0	0	0	11826	739	26	0	414	0	PGBD5	1	230468691	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	53619	230468691	18781930	1919	12236											
PGBD5	79605	broad.mit.edu	37	chr1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcgtcaggctggtgatgCtgggccccgtgaaaatgatg	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000525115.1	-	4	850	c.827G>T	c.(826-828)aGc>aTc	p.S276I	PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	276						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1123-1125)aGc>aTc		piggyBac transposable element derived 5							108	99	102					1																	230472895		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230472895C>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.827G>T	1.37:g.230472895C>A	ENSP00000431404:p.Ser276Ile					PGBD5_ENST00000525115.1_Missense_Mutation_p.S276I|PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I	p.S375I			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	6	1123	-	Breast(184;0.0397)	Prostate(94;0.167)	276					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1124G>T		.	.	.	.	.	.	.	.	.	.	c	20.5	4.003363	0.74932	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	.	0.086170	0.85682	D	0.000000	T	0.30479	0.0766	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07009	-1.0795	10	0.48119	T	0.1	-37.2023	18.7377	0.91761	0.0:1.0:0.0:0.0	.	276	Q8N414	PGBD5_HUMAN	I	230;375;276	ENSP00000375733:S230I;ENSP00000322530:S375I;ENSP00000431404:S276I	ENSP00000322530:S375I	S	-	2	0	PGBD5	228539518	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.167000	0.71902	2.409000	0.81822	0.585000	0.79938	AGC		0.587	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		131	399	1	0	5.21138e-58	1	6.5303e-58	131	399					A	230472895	C	A	230472895	3	1	79	1	0	0	0	0	1	0	0	0	11826	797	28	3	556	3	PGBD5	1	230472895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4204	230472895	18777726	1920	12237											
COG2	22796	broad.mit.edu	37	chr1	230805179	230805179	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttcagacgtctgacgtCgatataatacggcactgctt	10	11	2	2	rs186499102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000366669.4	+	7	787	c.672C>T	c.(670-672)gtC>gtT	p.V224V	COG2_ENST00000534989.1_Silent_p.V165V|COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000366668.3_Silent_p.V224V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	224					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19624	0.001		0.0	False		,,,				2504	0.0					ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(493-495)gtC>gtT		component of oligomeric golgi complex 2							120	105	110					1																	230805179		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805179C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.672C>T	1.37:g.230805179C>T						COG2_ENST00000366669.4_Silent_p.V224V|COG2_ENST00000366668.3_Silent_p.V224V|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Silent_p.V108V	p.V165V			Q14746	COG2_HUMAN			7	830	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	224					Q86U99	Silent	SNP	ENST00000366669.4	37	c.495C>T	CCDS1584.1																																																																																				0.493	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		116	379	0	0	0	1	0	116	379					T	230805179	C	T	230805179	2	4	79	1	0	0	0	0	0	0	0	1	3667	871	31	1		1	COG2	1	230805179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332284	230805179	18445442	1921	12238											
COG2	22796	broad.mit.edu	37	chr1	230805251	230805251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggaggccttagttggCcaagtactagtgaaaccata	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000366669.4	+	7	859	c.744C>T	c.(742-744)ggC>ggT	p.G248G	COG2_ENST00000534989.1_Silent_p.G189G|COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000366668.3_Silent_p.G248G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	248					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTTAGTTGGCCAAGTACTAG	0.483																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(565-567)ggC>ggT		component of oligomeric golgi complex 2							86	71	76					1																	230805251		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805251C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.744C>T	1.37:g.230805251C>T						COG2_ENST00000366669.4_Silent_p.G248G|COG2_ENST00000366668.3_Silent_p.G248G|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Silent_p.G132G	p.G189G			Q14746	COG2_HUMAN			7	902	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	248					Q86U99	Silent	SNP	ENST00000366669.4	37	c.567C>T	CCDS1584.1																																																																																				0.483	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		11	241	0	0	0	1	0	11	241					T	230805251	C	T	230805251	2	4	79	1	0	0	0	0	0	0	0	1	3667	726	26	2		2	COG2	1	230805251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	230805251	18445370	1922	12239											
COG2	22796	broad.mit.edu	37	chr1	230820883	230820883	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacttggagcagccttagGaggtgttggtcagatgagat	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000366669.4	+	12	1396	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	COG2_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000534989.1_Silent_p.R368R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	427					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1102-1104)agG>agA		component of oligomeric golgi complex 2							265	234	244					1																	230820883		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230820883G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1281G>A	1.37:g.230820883G>A						COG2_ENST00000366669.4_Silent_p.R427R|COG2_ENST00000366668.3_Silent_p.R427R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000546013.1_Silent_p.R116R	p.R368R			Q14746	COG2_HUMAN			12	1439	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	427					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1104G>A	CCDS1584.1																																																																																				0.438	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		122	625	0	0	0	1	0	122	625					A	230820883	G	A	230820883	2	1	79	1	0	0	0	0	0	0	0	1	3667	1165	41	2		2	COG2	1	230820883	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15632	230820883	18429738	1923	12240											
AGT	183	broad.mit.edu	37	chr1	230846565	230846565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctcacaccggcaggaGccatctcagactggggtgct	13	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230846565G>T	ENST00000366667.4	-	2	246	c.32C>A	c.(31-33)gCt>gAt	p.A11D	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACCGGCAGGAGCCATCTCAGA	0.567																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(31-33)gCt>gAt		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						44	44	44					1																	230846565		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846565G>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.32C>A	1.37:g.230846565G>T	ENSP00000355627:p.Ala11Asp					RP11-99J16__A.2_ENST00000412344.1_RNA	p.A11D	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	246	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	11					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.32C>A	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009170	0.35415	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.82167	-1.58	5.37	0.101	0.14517	.	1.311970	0.05099	N	0.486836	T	0.76033	0.3931	L	0.51422	1.61	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.09377	0.002;0.004;0.002	T	0.58741	-0.7583	10	0.72032	D	0.01	.	1.6063	0.02684	0.2446:0.156:0.4607:0.1388	.	11;11;11	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	D	11	ENSP00000355627:A11D	ENSP00000355627:A11D	A	-	2	0	AGT	228913188	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.032000	0.13732	-0.157000	0.11059	-0.310000	0.09108	GCT		0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		16	388	1	0	9.16793e-09	1	9.60025e-09	16	388					T	230846565	G	T	230846565	3	4	79	1	0	0	0	0	1	0	0	0	399	971	34	3	1441	3	AGT	1	230846565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25682	230846565	18404056	1924	12241											
TRIM67	440730	broad.mit.edu	37	chr1	231339671	231339671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgtaacaacagcgtcacGctggcctggaggatgccacc	11	15	1	0	rs371749809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231339671G>A	ENST00000366653.5	+	6	1593	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	TRIM67_ENST00000444294.3_Silent_p.T529T|TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000449018.3_Silent_p.T469T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	531	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACAGCGTCACGCTGGCCTGGA	0.652																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1585-1587)acG>acA		tripartite motif containing 67							48	59	55					1																	231339671		2121	4222	6343	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339671G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1593G>A	1.37:g.231339671G>A						TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000366653.5_Silent_p.T531T	p.T529T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2445	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	531			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1587G>A	CCDS44333.1																																																																																				0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		6	169	0	0	0	1	0	6	169					A	231339671	G	A	231339671	2	1	79	1	0	0	0	0	0	0	0	1	16593	1074	38	1		1	TRIM67	1	231339671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493106	231339671	17910950	1925	12242											
C1orf124	83932	broad.mit.edu	37	chr1	231487087	231487087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaggtggatgagtatcGgcgacactggtggcgctgca	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231487087G>A	ENST00000295050.7	+	4	824	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	SPRTN_ENST00000008440.9_Missense_Mutation_p.R120Q|SPRTN_ENST00000391858.4_Missense_Mutation_p.R163Q|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	163	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GATGAGTATCGGCGACACTGG	0.458																																						ENST00000391858.4																			0											c.(487-489)cGg>cAg		SprT-like N-terminal domain							70	71	70					1																	231487087		2203	4300	6503	SO:0001583	missense	83932							g.chr1:231487087G>A	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.488G>A	1.37:g.231487087G>A	ENSP00000295050:p.Arg163Gln					SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000295050.7_Missense_Mutation_p.R163Q|SPRTN_ENST00000008440.9_Missense_Mutation_p.R120Q	p.R163Q							4	1768	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.488G>A	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897455	0.97081	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.44881	0.91;0.91;0.91	5.74	5.74	0.90152	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;P	0.91635	0.999;0.914;0.902	T	0.54180	-0.8332	10	0.35671	T	0.21	-32.4859	20.2835	0.98531	0.0:0.0:1.0:0.0	.	120;163;163	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	Q	163;163;120;120;59	ENSP00000375731:R163Q;ENSP00000295050:R163Q;ENSP00000355604:R59Q	ENSP00000008440:R120Q	R	+	2	0	C1orf124	229553710	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	9.813000	0.99286	2.873000	0.98535	0.643000	0.83706	CGG		0.458	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		95	349	0	0	0	1	0	95	349					A	231487087	G	A	231487087	3	1	79	1	0	0	0	0	1	0	0	0	1999	1116	39	1	502	1	C1orf124	1	231487087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147416	231487087	17763534	1926	12243											
DISC1	27185	broad.mit.edu	37	chr1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaagagtttgcagccatgGatagttctgagaccctggac	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000602281.1	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	DISC1_ENST00000439617.2_Missense_Mutation_p.D151Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	151	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCAGCCATGGATAGTTCTGA	0.612																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(451-453)Gat>Tat		disrupted in schizophrenia 1							45	46	46					1																	231829955		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829955G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.451G>T	1.37:g.231829955G>T	ENSP00000473425:p.Asp151Tyr					TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y	p.D151Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	504	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	151			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.451G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048278	0.55110	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.89	2.94	0.34122	.	0.558568	0.18836	N	0.129833	T	0.40297	0.1111	L	0.36672	1.1	0.21290	N	0.99974	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.844;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.974	P;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P	0.78314	0.534;0.988;0.961;0.991;0.988;0.961;0.988;0.988;0.988;0.988;0.705;0.988;0.991;0.988;0.964;0.977;0.991;0.964;0.977;0.988;0.705	T	0.04255	-1.0965	10	0.44086	T	0.13	-23.4826	9.4905	0.38955	0.0:0.1529:0.6902:0.1569	.	151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	151;151;151;151;151;151;151;151;151;151;151;151;2	ENSP00000403888:D151Y;ENSP00000320784:D151Y;ENSP00000355596:D151Y;ENSP00000443996:D151Y;ENSP00000440909:D151Y;ENSP00000355593:D151Y;ENSP00000440953:D151Y;ENSP00000295051:D151Y;ENSP00000441193:D151Y	ENSP00000295051:D151Y	D	+	1	0	DISC1	229896578	0.945000	0.32115	0.881000	0.34555	0.052000	0.14988	2.216000	0.42871	2.519000	0.84933	0.655000	0.94253	GAT		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		25	261	1	0	4.72057e-08	1	4.92026e-08	25	261					T	231829955	G	T	231829955	3	4	79	1	0	0	0	0	1	0	0	0	4554	1174	41	3	457	3	DISC1	1	231829955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342868	231829955	17420666	1927	12244											
SIPA1L2	57568	broad.mit.edu	37	chr1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccgcagctgagctgtcGcggtctgggactcctcctgc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1703					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGAGCTGTCGCGGTCTGGGA	0.517																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(5107-5109)gCg>gTg		signal-induced proliferation-associated 1 like 2							124	124	124					1																	232534934		2091	4251	6342	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232534934G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5108C>T	1.37:g.232534934G>A	ENSP00000355589:p.Ala1703Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V	p.A1703V			Q9P2F8	SI1L2_HUMAN			22	5466	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1703					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.5108C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585424	0.86748	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.88818	-2.43;-2.43;1.47	4.99	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.83953	2.67	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.95329	0.8428	10	0.87932	D	0	-32.8176	15.5869	0.76491	0.0:0.1381:0.8619:0.0	.	1703;759	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1703;1703;759	ENSP00000355589:A1703V;ENSP00000262861:A1703V;ENSP00000309102:A759V	ENSP00000262861:A1703V	A	-	2	0	SIPA1L2	230601557	1.000000	0.71417	0.082000	0.20525	0.806000	0.45545	9.653000	0.98506	1.319000	0.45190	0.460000	0.39030	GCG		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		77	213	0	0	0	1	0	77	213					A	232534934	G	A	232534934	3	1	79	1	0	0	0	0	1	0	0	0	14380	1087	38	1	64	1	SIPA1L2	1	232534934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704979	232534934	16715687	1928	12245											
SIPA1L2	57568	broad.mit.edu	37	chr1	232596697	232596697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcacagaagtacggaGcaggtcgatcatctgctcgt	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232596697G>T	ENST00000366630.1	-	9	3389	c.3031C>A	c.(3031-3033)Ctc>Atc	p.L1011I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1011	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGTACGGAGCAGGTCGATC	0.602																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3031-3033)Ctc>Atc		signal-induced proliferation-associated 1 like 2							39	41	41					1																	232596697		2203	4300	6503	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596697G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3031C>A	1.37:g.232596697G>T	ENSP00000355589:p.Leu1011Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I	p.L1011I			Q9P2F8	SI1L2_HUMAN			9	3389	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1011			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3031C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540507	0.85917	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.72505	-0.66;-0.66;-0.66	5.64	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76688	0.4022	L	0.38733	1.17	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77955	-0.2393	10	0.87932	D	0	-23.9498	13.093	0.59176	0.1215:0.0:0.8785:0.0	.	1011;85	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	I	1011;1011;85	ENSP00000355589:L1011I;ENSP00000262861:L1011I;ENSP00000309102:L85I	ENSP00000262861:L1011I	L	-	1	0	SIPA1L2	230663320	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.623000	0.54224	2.816000	0.96949	0.563000	0.77884	CTC		0.602	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		11	349	1	0	6.40141e-05	1	6.5221e-05	11	349					T	232596697	G	T	232596697	3	4	79	1	0	0	0	0	1	0	0	0	14380	971	34	3	2193	3	SIPA1L2	1	232596697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61763	232596697	16653924	1929	12246											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctgacaattccaagggCgaatgcccctctccagtcgg	10	14	1	1	rs369266455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	321					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(961-963)cGc>cAc		signal-induced proliferation-associated 1 like 2		C	HIS/ARG	1,3907		0,1,1953	57	59	58		962	4.5	1	1		58	0,8304		0,0,4152	no	missense	SIPA1L2	NM_020808.3	29	0,1,6105	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	321/1723	232650124	1,12211	1954	4152	6106	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650124C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.962G>A	1.37:g.232650124C>T	ENSP00000355589:p.Arg321His					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H	p.R321H			Q9P2F8	SI1L2_HUMAN			2	1320	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	321					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.962G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571675	0.45798	2.56E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82433	-1.61;-1.61	5.39	4.49	0.54785	.	0.063541	0.64402	D	0.000003	T	0.78168	0.4241	L	0.59436	1.845	0.45899	D	0.998748	B	0.26547	0.152	B	0.23419	0.046	T	0.76570	-0.2911	10	0.62326	D	0.03	-25.2195	8.5231	0.33289	0.0:0.7729:0.0:0.2271	.	321	Q9P2F8	SI1L2_HUMAN	H	321	ENSP00000355589:R321H;ENSP00000262861:R321H	ENSP00000262861:R321H	R	-	2	0	SIPA1L2	230716747	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	0.907000	0.28531	1.517000	0.48917	0.650000	0.86243	CGC		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		71	343	0	0	0	1	0	71	343					T	232650124	C	T	232650124	3	4	79	1	0	0	0	0	1	0	0	0	14380	768	27	1	4290	1	SIPA1L2	1	232650124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53427	232650124	16600497	1930	12247											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgctcacttttaacagttCgaagctttcggaagagagat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	296					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAACAGTTCGAAGCTTTCG	0.502																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(886-888)cGa>cAa		signal-induced proliferation-associated 1 like 2							67	69	68					1																	232650199		1916	4123	6039	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650199C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.887G>A	1.37:g.232650199C>T	ENSP00000355589:p.Arg296Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q	p.R296Q			Q9P2F8	SI1L2_HUMAN			2	1245	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	296					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.887G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961471	0.74016	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.84442	-1.85;-1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.69358	2.11	0.51767	D	0.999933	D	0.76494	0.999	D	0.67900	0.954	D	0.91448	0.5179	10	0.66056	D	0.02	-24.867	19.6787	0.95950	0.0:1.0:0.0:0.0	.	296	Q9P2F8	SI1L2_HUMAN	Q	296	ENSP00000355589:R296Q;ENSP00000262861:R296Q	ENSP00000262861:R296Q	R	-	2	0	SIPA1L2	230716822	0.975000	0.34042	0.930000	0.37139	0.978000	0.69477	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	CGA		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		94	306	0	0	0	1	0	94	306					T	232650199	C	T	232650199	3	4	79	1	0	0	0	0	1	0	0	0	14380	884	31	1	4365	1	SIPA1L2	1	232650199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	232650199	16600422	1931	12248											
KIAA1383	54627	broad.mit.edu	37	chr1	232940995	232940995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttggtggcaaaaaacggctCacaagtatgcatacaaaggg	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232940995C>T	ENST00000418460.1	+	1	353	c.226C>T	c.(226-228)Cac>Tac	p.H76Y		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AAAAACGGCTCACAAGTATGC	0.458																																						ENST00000418460.1																			0											c.(226-228)Cac>Tac		microtubule-associated protein 10							112	114	113					1																	232940995		1960	4154	6114	SO:0001583	missense	54627							g.chr1:232940995C>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.226C>T	1.37:g.232940995C>T	ENSP00000403208:p.His76Tyr						p.H76Y	NM_019090.2	NP_061963.2					1	353	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.226C>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923593	0.18056	.	.	ENSG00000212916	ENST00000418460	.	.	.	1.97	-2.99	0.05497	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	0.11485	T	0.65	.	7.8487	0.29442	0.0:0.6329:0.0:0.3671	.	.	.	.	Y	76	.	ENSP00000403208:H76Y	H	+	1	0	KIAA1383	231007618	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.729000	0.04920	-1.098000	0.03038	-1.786000	0.00637	CAC		0.458	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		100	444	0	0	0	1	0	100	444					T	232940995	C	T	232940995	3	4	79	1	0	0	0	0	1	0	0	0	8258	826	29	2	228	2	KIAA1383	1	232940995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290796	232940995	16309626	1932	12249											
KIAA1383	54627	broad.mit.edu	37	chr1	232941505	232941505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctgcagcctgctaccCtgcactgccggctcctgcgg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941505C>A	ENST00000418460.1	+	1	863	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	104					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GCCTGCTACCCTGCACTGCCG	0.741																																						ENST00000418460.1																			0											c.(736-738)Ctg>Atg		microtubule-associated protein 10							9	12	11					1																	232941505		1947	4085	6032	SO:0001583	missense	54627							g.chr1:232941505C>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.736C>A	1.37:g.232941505C>A	ENSP00000403208:p.Leu246Met						p.L246M	NM_019090.2	NP_061963.2					1	863	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.736C>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185019	0.78677	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	1.23	0.21249	.	0.000000	0.43747	U	0.000525	T	0.65354	0.2683	M	0.77103	2.36	0.34111	D	0.663038	D	0.71674	0.998	D	0.65443	0.935	T	0.70868	-0.4755	9	0.87932	D	0	-7.3523	6.5493	0.22425	0.1271:0.6683:0.0:0.2046	.	104	Q9P2G4	K1383_HUMAN	M	246	.	ENSP00000403208:L246M	L	+	1	2	KIAA1383	231008128	0.026000	0.19158	0.024000	0.17045	0.931000	0.56810	0.651000	0.24873	0.033000	0.15463	0.555000	0.69702	CTG		0.741	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		23	119	1	0	2.27525e-19	1	2.53767e-19	23	119					A	232941505	C	A	232941505	3	1	79	1	0	0	0	0	1	0	0	0	8258	680	24	3	738	3	KIAA1383	1	232941505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	232941505	16309116	1933	12250											
KIAA1383	54627	broad.mit.edu	37	chr1	232941539	232941539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggaccccgcttgccaCcttgctgctgcagctgcccc	10	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941539C>A	ENST00000418460.1	+	1	897	c.770C>A	c.(769-771)aCc>aAc	p.T257N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	115					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCGCTTGCCACCTTGCTGCTG	0.726																																						ENST00000418460.1																			0											c.(769-771)aCc>aAc		microtubule-associated protein 10							8	9	9					1																	232941539		1912	4065	5977	SO:0001583	missense	54627							g.chr1:232941539C>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.770C>A	1.37:g.232941539C>A	ENSP00000403208:p.Thr257Asn						p.T257N	NM_019090.2	NP_061963.2					1	897	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.770C>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220248	0.58560	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	3.38	0.38709	.	0.107299	0.35207	U	0.003377	T	0.46171	0.1379	M	0.63428	1.95	0.23546	N	0.997443	D	0.55172	0.97	P	0.49708	0.62	T	0.38693	-0.9649	9	0.62326	D	0.03	0.0423	8.8777	0.35356	0.0:0.7729:0.0:0.2271	.	115	Q9P2G4	K1383_HUMAN	N	257	.	ENSP00000403208:T257N	T	+	2	0	KIAA1383	231008162	0.013000	0.17824	0.086000	0.20670	0.233000	0.25261	0.438000	0.21559	0.709000	0.31976	0.555000	0.69702	ACC		0.726	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		23	78	1	0	2.39556e-15	1	2.61601e-15	23	78					A	232941539	C	A	232941539	3	1	79	1	0	0	0	0	1	0	0	0	8258	507	18	3	772	3	KIAA1383	1	232941539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	232941539	16309082	1934	12251											
KIAA1383	54627	broad.mit.edu	37	chr1	232943054	232943054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattggaagaagttgtgaGtcctgcaaattccattattc	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232943054G>T	ENST00000418460.1	+	1	2412	c.2285G>T	c.(2284-2286)aGt>aTt	p.S762I		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	620	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GAAGTTGTGAGTCCTGCAAAT	0.338																																						ENST00000418460.1																			0											c.(2284-2286)aGt>aTt		microtubule-associated protein 10							82	84	83					1																	232943054		1829	4073	5902	SO:0001583	missense	54627							g.chr1:232943054G>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2285G>T	1.37:g.232943054G>T	ENSP00000403208:p.Ser762Ile						p.S762I	NM_019090.2	NP_061963.2					1	2412	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.2285G>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345858	0.24426	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.78	2.88	0.33553	.	0.311639	0.22688	U	0.056857	T	0.36608	0.0973	L	0.56769	1.78	0.09310	N	1	P	0.40875	0.731	B	0.38264	0.269	T	0.26360	-1.0105	9	0.56958	D	0.05	-2.8055	8.6023	0.33751	0.2529:0.0:0.7471:0.0	.	620	Q9P2G4	K1383_HUMAN	I	762	.	ENSP00000403208:S762I	S	+	2	0	KIAA1383	231009677	0.000000	0.05858	0.162000	0.22713	0.298000	0.27526	0.120000	0.15647	0.906000	0.36621	-0.216000	0.12614	AGT		0.338	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		71	397	1	0	1.37693e-34	1	1.6385e-34	71	397					T	232943054	G	T	232943054	3	4	79	1	0	0	0	0	1	0	0	0	8258	1029	36	3	2287	3	KIAA1383	1	232943054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1515	232943054	16307567	1935	12252											
PCNXL2	80003	broad.mit.edu	37	chr1	233122221	233122221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggccagatgagctcaGcatgggcggcctttggctta	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1953	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGCTCAGCATGGGCGGC	0.602																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5857-5859)Ctg>Ttg		pecanex-like 2 (Drosophila)							20	26	24					1																	233122221		2083	4203	6286	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233122221G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5857C>T	1.37:g.233122221G>A						PCNXL2_ENST00000344698.2_Silent_p.L605L	p.L1953L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			33	6091	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1953			Ser-rich.		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5857C>T	CCDS44335.1																																																																																				0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		13	66	0	0	0	1	0	13	66					A	233122221	G	A	233122221	2	1	79	1	0	0	0	0	0	0	0	1	11634	962	34	2		2	PCNXL2	1	233122221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179167	233122221	16128400	1936	12253											
PCNXL2	80003	broad.mit.edu	37	chr1	233134991	233134991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaccccaggggctgatcGcaggaggagttaatcaagtt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1821						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCTGATCGCAGGAGGAGT	0.547																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5461-5463)tgC>tgT		pecanex-like 2 (Drosophila)							63	65	64					1																	233134991		1921	4136	6057	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233134991G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5463C>T	1.37:g.233134991G>A						PCNXL2_ENST00000344698.2_Silent_p.C473C	p.C1821C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			31	5697	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1821					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5463C>T	CCDS44335.1																																																																																				0.547	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		30	93	0	0	0	1	0	30	93					A	233134991	G	A	233134991	2	1	79	1	0	0	0	0	0	0	0	1	11634	1079	38	1		1	PCNXL2	1	233134991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12770	233134991	16115630	1937	12254											
PCNXL2	80003	broad.mit.edu	37	chr1	233136143	233136143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgccgcagggtgagcaGctcttccttgttggacagca	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.9	-	30	5470	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	PCNXL2_ENST00000344698.2_Silent_p.L398L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1746						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGAGCAGCTCTTCCTTG	0.607																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5236-5238)Ctg>Ttg		pecanex-like 2 (Drosophila)							102	104	104					1																	233136143		2088	4209	6297	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233136143G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5236C>T	1.37:g.233136143G>A						PCNXL2_ENST00000344698.2_Silent_p.L398L	p.L1746L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			30	5470	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1746					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5236C>T	CCDS44335.1																																																																																				0.607	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		12	562	0	0	0	1	0	12	562					A	233136143	G	A	233136143	2	1	79	1	0	0	0	0	0	0	0	1	11634	962	34	2		2	PCNXL2	1	233136143	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1152	233136143	16114478	1938	12255											
PCNXL2	80003	broad.mit.edu	37	chr1	233136192	233136192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggccgggtcgccctcGtggcagatgaccaccttctt	12	16	1	2	rs377277630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1729						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGTCGCCCTCGTGGCAGATGA	0.622																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5185-5187)caC>caT		pecanex-like 2 (Drosophila)		G		1,4069		0,1,2034	63	65	64		5187	-4.8	0.9	1		64	0,8344		0,0,4172	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6206	AA,AG,GG		0.0,0.0246,0.0081		1729/2138	233136192	1,12413	2035	4172	6207	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233136192G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5187C>T	1.37:g.233136192G>A						PCNXL2_ENST00000344698.2_Silent_p.H381H	p.H1729H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			30	5421	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1729					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5187C>T	CCDS44335.1																																																																																				0.622	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		52	273	0	0	0	1	0	52	273					A	233136192	G	A	233136192	2	1	79	1	0	0	0	0	0	0	0	1	11634	1136	40	1		1	PCNXL2	1	233136192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	233136192	16114429	1939	12256											
PCNXL2	80003	broad.mit.edu	37	chr1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagagatcttcttacctgGatctctttcaatttggactg	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1378						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTGGATCTCTTTCA	0.393																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4132-4134)Cca>Tca		pecanex-like 2 (Drosophila)							103	96	99					1																	233192981		1840	4085	5925	SO:0001583	missense	80003					integral to membrane		g.chr1:233192981G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4132C>T	1.37:g.233192981G>A	ENSP00000258229:p.Pro1378Ser					PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	p.P1378S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			24	4366	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1378					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4132C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143950	0.37825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.89	5.8	3.9	0.45041	.	0.329396	0.36519	N	0.002548	T	0.22781	0.0550	L	0.46885	1.475	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.14023	0.009;0.01	T	0.03148	-1.1067	10	0.45353	T	0.12	.	10.3576	0.43974	0.0755:0.4085:0.516:0.0	.	1378;30	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	30;1378	ENSP00000340759:P30S;ENSP00000258229:P1378S	ENSP00000258229:P1378S	P	-	1	0	PCNXL2	231259604	0.974000	0.33945	0.999000	0.59377	0.989000	0.77384	0.916000	0.28651	0.769000	0.33313	0.655000	0.94253	CCA		0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		15	53	0	0	0	1	0	15	53					A	233192981	G	A	233192981	3	1	79	1	0	0	0	0	1	0	0	0	11634	1174	41	2	2325	2	PCNXL2	1	233192981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56789	233192981	16057640	1940	12257											
PCNXL2	80003	broad.mit.edu	37	chr1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcaggccatacacaaCgtaactgggagggtgcctgg	14	10	1	0	rs574508476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	934						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCATACACAACGTAACTGGGA	0.448																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2800-2802)Gtt>Att		pecanex-like 2 (Drosophila)							109	103	105					1																	233344327		1914	4115	6029	SO:0001583	missense	80003					integral to membrane		g.chr1:233344327C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2800G>A	1.37:g.233344327C>T	ENSP00000258229:p.Val934Ile					PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I	p.V934I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			13	3034	-		all_cancers(173;0.0347)|Prostate(94;0.137)	934					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2800G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236571	0.10023	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.8	-5.52	0.02560	.	.	.	.	.	T	0.46405	0.1391	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.001	B;B	0.12156	0.007;0.001	T	0.31052	-0.9957	9	0.36615	T	0.2	.	14.7768	0.69736	0.0:0.3611:0.0:0.6389	.	233;934	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	I	934;67;103;233	ENSP00000258229:V934I;ENSP00000430820:V67I;ENSP00000429231:V103I;ENSP00000394703:V233I	ENSP00000258229:V934I	V	-	1	0	PCNXL2	231410950	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.854000	0.04299	-1.021000	0.03350	-2.757000	0.00123	GTT		0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		23	263	0	0	0	1	0	23	263					T	233344327	C	T	233344327	3	4	79	1	0	0	0	0	1	0	0	0	11634	536	19	1	3701	1	PCNXL2	1	233344327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151346	233344327	15906294	1941	12258											
KIAA1804	84451	broad.mit.edu	37	chr1	233482285	233482285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcacaggaccaccaaAatgagcacagcaggcaccta	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233482285A>C	ENST00000366624.3	+	2	1164	c.903A>C	c.(901-903)aaA>aaC	p.K301N	MLK4_ENST00000366623.3_Missense_Mutation_p.K301N	NM_032435.2	NP_115811.2																					GGACCACCAAAATGAGCACAG	0.458																																						ENST00000366624.3																			0											c.(901-903)aaA>aaC									102	96	98					1																	233482285		2203	4300	6503	SO:0001583	missense	0							g.chr1:233482285A>C																												ENST00000366624.3:c.903A>C	1.37:g.233482285A>C	ENSP00000355583:p.Lys301Asn					MLK4_ENST00000366623.3_Missense_Mutation_p.K301N	p.K301N	NM_032435.2	NP_115811.2					2	1164	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.903A>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.512839	0.64522	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.83673	-1.75;-1.75	4.49	2.13	0.27403	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.125359	0.52532	D	0.000067	T	0.76637	0.4015	N	0.11427	0.14	0.80722	D	1	P;P	0.45212	0.853;0.57	P;P	0.57720	0.826;0.521	T	0.73300	-0.4026	10	0.52906	T	0.07	.	6.5382	0.22365	0.5676:0.0:0.4324:0.0	.	301;301	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	N	301	ENSP00000355582:K301N;ENSP00000355583:K301N	ENSP00000355582:K301N	K	+	3	2	RP5-862P8.2	231548908	0.941000	0.31946	0.993000	0.49108	0.985000	0.73830	0.232000	0.17891	0.238000	0.21222	0.460000	0.39030	AAA		0.458	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			44	265	0	0	0	1	0	44	265					C	233482285	A	C	233482285	3	2	79	1	0	0	0	0	1	0	0	0	8289	11	1	4	909	4	KIAA1804	1	233482285	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	137958	233482285	15768336	1942	12259											
KIAA1804	84451	broad.mit.edu	37	chr1	233489598	233489598	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccggagaagtcccctaTcggggcattgatggcctcgc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233489598T>A	ENST00000366624.3	+	3	1293	c.1032T>A	c.(1030-1032)taT>taA	p.Y344*	MLK4_ENST00000366623.3_Nonsense_Mutation_p.Y344*	NM_032435.2	NP_115811.2																					AAGTCCCCTATCGGGGCATTG	0.512																																						ENST00000366624.3																			0											c.(1030-1032)taT>taA									103	99	100					1																	233489598		2203	4300	6503	SO:0001587	stop_gained	0							g.chr1:233489598T>A																												ENST00000366624.3:c.1032T>A	1.37:g.233489598T>A	ENSP00000355583:p.Tyr344*					MLK4_ENST00000366623.3_Nonsense_Mutation_p.Y344*	p.Y344*	NM_032435.2	NP_115811.2					3	1293	+									Nonsense_Mutation	SNP	ENST00000366624.3	37	c.1032T>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	38	7.176914	0.98114	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	.	.	.	4.91	-6.63	0.01807	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6719	0.99681	0.0:0.8469:0.0:0.1531	.	.	.	.	X	344	.	ENSP00000355582:Y344X	Y	+	3	2	RP5-862P8.2	231556221	0.509000	0.26163	0.549000	0.28204	0.985000	0.73830	-0.180000	0.09754	-1.575000	0.01655	0.460000	0.39030	TAT		0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			65	387	0	0	0	1	0	65	387					A	233489598	T	A	233489598	4	1	79	1	0	0	0	0	0	1	0	0	8289	1442	50	5	1042	5	KIAA1804	1	233489598	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7313	233489598	15761023	1943	12260											
KIAA1804	84451	broad.mit.edu	37	chr1	233507831	233507831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcccaacttggacaaaCggcggagcctgaacagcagc	10	15	1	1	rs149965923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233507831C>T	ENST00000366624.3	+	6	1861	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	MLK4_ENST00000366623.3_Missense_Mutation_p.R534W	NM_032435.2	NP_115811.2																					CTTGGACAAACGGCGGAGCCT	0.542																																						ENST00000366624.3																			0											c.(1600-1602)Cgg>Tgg				C	TRP/ARG	0,4406		0,0,2203	94	92	93		1600	4.2	1	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1804	NM_032435.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	534/1037	233507831	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr1:233507831C>T																												ENST00000366624.3:c.1600C>T	1.37:g.233507831C>T	ENSP00000355583:p.Arg534Trp					MLK4_ENST00000366623.3_Missense_Mutation_p.R534W	p.R534W	NM_032435.2	NP_115811.2					6	1861	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1600C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667601	0.67814	0.0	1.16E-4	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13901	2.55;2.55	5.11	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.36441	0.0967	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.20672	-1.0268	10	0.87932	D	0	.	12.7904	0.57530	0.4133:0.5866:0.0:0.0	.	534;534	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	W	534	ENSP00000355582:R534W;ENSP00000355583:R534W	ENSP00000355582:R534W	R	+	1	2	RP5-862P8.2	231574454	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	1.650000	0.37292	1.316000	0.45131	0.650000	0.86243	CGG		0.542	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			19	428	0	0	0	1	0	19	428					T	233507831	C	T	233507831	3	4	79	1	0	0	0	0	1	0	0	0	8289	527	19	1	1622	1	KIAA1804	1	233507831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18233	233507831	15742790	1944	12261											
KIAA1804	84451	broad.mit.edu	37	chr1	233514763	233514763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcctagtcaggcctacattGatctacctcttgggaaagat	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514763G>A	ENST00000366624.3	+	9	2272	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	MLK4_ENST00000366622.1_Missense_Mutation_p.D117N	NM_032435.2	NP_115811.2																					GGCCTACATTGATCTACCTCT	0.453																																						ENST00000366624.3																			0											c.(2011-2013)Gat>Aat									65	71	69					1																	233514763		2203	4300	6503	SO:0001583	missense	0							g.chr1:233514763G>A																												ENST00000366624.3:c.2011G>A	1.37:g.233514763G>A	ENSP00000355583:p.Asp671Asn					MLK4_ENST00000366622.1_Missense_Mutation_p.D117N	p.D671N	NM_032435.2	NP_115811.2					9	2272	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.2011G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111901	0.20714	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.28895	1.59;1.59	4.95	4.95	0.65309	.	0.136762	0.48286	D	0.000184	T	0.21103	0.0508	L	0.38175	1.15	0.32047	N	0.59739	P;B	0.50272	0.933;0.004	P;B	0.45406	0.479;0.005	T	0.10474	-1.0628	10	0.02654	T	1	.	7.3576	0.26727	0.0905:0.0:0.7397:0.1697	.	118;671	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	N	671;117	ENSP00000355583:D671N;ENSP00000355581:D117N	ENSP00000355581:D117N	D	+	1	0	RP5-862P8.2	231581386	1.000000	0.71417	0.880000	0.34516	0.951000	0.60555	4.696000	0.61774	2.575000	0.86900	0.655000	0.94253	GAT		0.453	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			34	422	0	0	0	1	0	34	422					A	233514763	G	A	233514763	3	1	79	1	0	0	0	0	1	0	0	0	8289	1290	45	2	2045	2	KIAA1804	1	233514763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6932	233514763	15735858	1945	12262											
KIAA1804	84451	broad.mit.edu	37	chr1	233514930	233514930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcagctctgtatgggtgCaccgtccttctggcatcggt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514930C>T	ENST00000366624.3	+	9	2439	c.2178C>T	c.(2176-2178)tgC>tgT	p.C726C	MLK4_ENST00000366622.1_Silent_p.C172C	NM_032435.2	NP_115811.2																					TGTATGGGTGCACCGTCCTTC	0.527																																						ENST00000366624.3																			0											c.(2176-2178)tgC>tgT									74	79	78					1																	233514930		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233514930C>T																												ENST00000366624.3:c.2178C>T	1.37:g.233514930C>T						MLK4_ENST00000366622.1_Silent_p.C172C	p.C726C	NM_032435.2	NP_115811.2					9	2439	+									Silent	SNP	ENST00000366624.3	37	c.2178C>T	CCDS1598.1																																																																																				0.527	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			63	377	0	0	0	1	0	63	377					T	233514930	C	T	233514930	2	4	79	1	0	0	0	0	0	0	0	1	8289	718	25	2		2	KIAA1804	1	233514930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167	233514930	15735691	1946	12263											
KCNK1	3775	broad.mit.edu	37	chr1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggtggtggccatcGtccatgccgtgctccttggg	14	13	0	0	rs199630093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	182					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16427	0.0		0.0	False		,,,				2504	0.0					ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(544-546)Gtc>Atc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						159	125	137					1																	233802529		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802529G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.544G>A	1.37:g.233802529G>A	ENSP00000355580:p.Val182Ile					KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I	p.V182I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	712	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	182					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.544G>A	CCDS1599.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.11	1.259144	0.23051	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.92;-4.38;-4.38	5.91	4.81	0.61882	.	0.308108	0.36134	N	0.002768	D	0.88731	0.6516	N	0.03324	-0.35	0.36554	D	0.872027	B	0.11235	0.004	B	0.06405	0.002	D	0.84840	0.0807	10	0.07482	T	0.82	.	10.5251	0.44943	0.141:0.0:0.859:0.0	.	182	O00180	KCNK1_HUMAN	I	182;66;100	ENSP00000355580:V182I;ENSP00000355579:V66I;ENSP00000409626:V100I	ENSP00000355579:V66I	V	+	1	0	KCNK1	231869152	0.998000	0.40836	0.842000	0.33263	0.552000	0.35366	3.077000	0.50089	2.793000	0.96121	0.655000	0.94253	GTC		0.607	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		142	338	0	0	0	1	0	142	338					A	233802529	G	A	233802529	3	1	79	1	0	0	0	0	1	0	0	0	8088	1145	40	1	550	1	KCNK1	1	233802529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287599	233802529	15448092	1947	12264											
KCNK1	3775	broad.mit.edu	37	chr1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttcttcttcatcccgGccgctgtcttctcagtcctg	7	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	200					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(598-600)Gcc>Acc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						154	136	142					1																	233802583		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802583G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.598G>A	1.37:g.233802583G>A	ENSP00000355580:p.Ala200Thr					KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T	p.A200T	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	766	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	200					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.598G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331415	0.95733	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98400	1.41;-4.91;-4.91	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99806	1.1038	10	0.59425	D	0.04	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	200	O00180	KCNK1_HUMAN	T	200;84;118	ENSP00000355580:A200T;ENSP00000355579:A84T;ENSP00000409626:A118T	ENSP00000355579:A84T	A	+	1	0	KCNK1	231869206	1.000000	0.71417	0.281000	0.24762	0.877000	0.50540	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GCC		0.532	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		96	541	0	0	0	1	0	96	541					A	233802583	G	A	233802583	3	1	79	1	0	0	0	0	1	0	0	0	8088	1203	42	2	604	2	KCNK1	1	233802583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	233802583	15448038	1948	12265											
SLC35F3	148641	broad.mit.edu	37	chr1	234041356	234041356	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagctcaagtacttggtGgtggacgaggcgattaagga	16	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTACTTGGTGGTGGACGAGG	0.657																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(133-135)gtG>gtT		solute carrier family 35, member F3							51	55	54					1																	234041356		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234041356G>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.135G>T	1.37:g.234041356G>T							p.V45V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	280	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	0					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366618.3	37	c.135G>T	CCDS1600.1																																																																																				0.657	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		106	364	1	0	2.97704e-61	1	3.74727e-61	106	364					T	234041356	G	T	234041356	2	4	79	1	0	0	0	0	0	0	0	1	14640	1335	47	3		3	SLC35F3	1	234041356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238773	234041356	15209265	1949	12266											
TARBP1	6894	broad.mit.edu	37	chr1	234529405	234529405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttacctcctaaattggtCggtttgtcgatgagcgaggc	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4420-4422)ccG>ccA		TAR (HIV-1) RNA binding protein 1							70	71	70					1																	234529405		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529405C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4422G>A	1.37:g.234529405C>T						TARBP1_ENST00000483404.1_5'UTR	p.P1474P	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		27	4421	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1474					Q9H581	Silent	SNP	ENST00000040877.1	37	c.4422G>A	CCDS1601.1																																																																																				0.453	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		109	279	0	0	0	1	0	109	279					T	234529405	C	T	234529405	2	4	79	1	0	0	0	0	0	0	0	1	15607	871	31	1		1	TARBP1	1	234529405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488049	234529405	14721216	1950	12267											
TARBP1	6894	broad.mit.edu	37	chr1	234586199	234586199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcagatgacttaacataCtcttgaacaatgctctttac	5	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	612					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1834-1836)gaG>gaA		TAR (HIV-1) RNA binding protein 1							79	75	77					1																	234586199		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234586199C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1836G>A	1.37:g.234586199C>T							p.E612E	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		10	1835	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	612					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1836G>A	CCDS1601.1																																																																																				0.328	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		29	210	0	0	0	1	0	29	210					T	234586199	C	T	234586199	2	4	79	1	0	0	0	0	0	0	0	1	15607	564	20	2		2	TARBP1	1	234586199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56794	234586199	14664422	1951	12268											
TARBP1	6894	broad.mit.edu	37	chr1	234603362	234603362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacattcttttataaatAcacatatgccaggatgggtg	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	378					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1132-1134)tgT>tgC		TAR (HIV-1) RNA binding protein 1							76	77	77					1																	234603362		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234603362A>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1134T>C	1.37:g.234603362A>G							p.C378C	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		4	1133	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	378					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1134T>C	CCDS1601.1																																																																																				0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		48	152	0	0	0	1	0	48	152					G	234603362	A	G	234603362	2	3	79	1	0	0	0	0	0	0	0	1	15607	389	14	4		4	TARBP1	1	234603362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17163	234603362	14647259	1952	12269											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743036	234743036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctccctgctgtttgatGctttgtctggagcaagggaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	537	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1609-1611)agC>agT		interferon regulatory factor 2 binding protein 2							80	88	85					1																	234743036		2203	4300	6503	SO:0001819	synonymous_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743036G>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1611C>T	1.37:g.234743036G>A						IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	p.S537S	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1641	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	537			Cys-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	c.1611C>T	CCDS1602.1																																																																																				0.567	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		155	506	0	0	0	1	0	155	506					A	234743036	G	A	234743036	2	1	79	1	0	0	0	0	0	0	0	1	7860	1310	46	2		2	IRF2BP2	1	234743036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139674	234743036	14507585	1953	12270											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcggactgttgctattcCtcctggtagtggagtgaacc	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1357-1359)aGg>aTg		interferon regulatory factor 2 binding protein 2							159	160	160					1																	234743289		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743289C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1358G>T	1.37:g.234743289C>A	ENSP00000355568:p.Arg453Met					IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	p.R453M	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1388	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	453					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1358G>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088416	0.76756	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34667	1.35;1.37	5.64	5.64	0.86602	.	0.050043	0.85682	D	0.000000	T	0.61123	0.2322	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58819	-0.7569	10	0.48119	T	0.1	-10.4175	19.6878	0.95987	0.0:1.0:0.0:0.0	.	453;437	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	M	437;453	ENSP00000355569:R437M;ENSP00000355568:R453M	ENSP00000355568:R453M	R	-	2	0	IRF2BP2	232809912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.670000	0.90874	0.655000	0.94253	AGG		0.587	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		172	950	1	0	3.78446e-69	1	4.80127e-69	172	950					A	234743289	C	A	234743289	3	1	79	1	0	0	0	0	1	0	0	0	7860	681	24	3	409	3	IRF2BP2	1	234743289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253	234743289	14507332	1954	12271											
IRF2BP2	359948	broad.mit.edu	37	chr1	234744193	234744193	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcacagccgcccctacCtgctttagacccgttggccc	7	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	IRF2BP2_ENST00000366610.3_Intron|IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCCCCTACCTGCTTTAGAC	0.592																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.e1+1		interferon regulatory factor 2 binding protein 2							14	15	15					1																	234744193		2195	4291	6486	SO:0001630	splice_region_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234744193C>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1048+1G>A	1.37:g.234744193C>T						IRF2BP2_ENST00000366610.3_Intron|RP4-781K5.2_ENST00000436039.1_RNA	p.V350_splice	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		1	1078	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	350					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Splice_Site	SNP	ENST00000366609.3	37	c.1048_splice	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085298	0.55861	.	.	ENSG00000168264	ENST00000366609	T	0.30448	1.53	4.94	4.04	0.47022	.	0.300208	0.33346	N	0.005013	T	0.19327	0.0464	N	0.19112	0.55	0.36995	D	0.894995	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	9	.	.	.	-0.4825	12.9904	0.58616	0.0:0.9211:0.0:0.0789	.	350	Q7Z5L9	I2BP2_HUMAN	I	350	ENSP00000355568:V350I	.	V	-	1	0	IRF2BP2	232810816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.149000	0.64863	1.291000	0.44653	0.655000	0.94253	GTT		0.592	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972	Missense_Mutation	9	71	0	0	0	1	0	9	71					T	234744193	C	T	234744193	5	4	79	1	0	0	0	0	0	0	1	0	7860	695	24	2	723	2	IRF2BP2	1	234744193	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	234744193	14506428	1955	12272											
ARID4B	51742	broad.mit.edu	37	chr1	235345456	235345456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaatacttgaccagacAtcttttcgatctttggccct	6	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	926					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGACCAGACATCTTTTCGAT	0.423																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2776-2778)gaT>gaC		AT rich interactive domain 4B (RBP1-like)							72	77	75					1																	235345456		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345456A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2778T>C	1.37:g.235345456A>G						ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D	p.D926D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3275	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	926					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.2778T>C	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303425	0.10678	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.63	-0.905	0.10527	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-20.0254	10.6774	0.45794	0.5946:0.0:0.4054:0.0	.	.	.	.	T	326	.	.	M	-	2	0	ARID4B	233412079	0.933000	0.31639	0.997000	0.53966	0.997000	0.91878	0.138000	0.16016	-0.170000	0.10816	0.477000	0.44152	ATG		0.423	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		210	567	0	0	0	1	0	210	567					G	235345456	A	G	235345456	2	3	79	1	0	0	0	0	0	0	0	1	920	214	8	4		4	ARID4B	1	235345456	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	601263	235345456	13905165	1956	12273											
ARID4B	51742	broad.mit.edu	37	chr1	235359344	235359344	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaaaaacaagcacttAcctttattttcttccgatgt	5	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAAGCACTTACCTTTATTTT	0.294																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.e18+1		AT rich interactive domain 4B (RBP1-like)							115	111	113					1																	235359344		2200	4297	6497	SO:0001630	splice_region_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235359344A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1926+1T>C	1.37:g.235359344A>G						ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site		NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		18	2424	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)						A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Splice_Site	SNP	ENST00000264183.3	37		CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391584	0.83011	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620;ENST00000439834	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4757	0.75478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID4B	233425967	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.442000	0.90317	2.197000	0.70478	0.477000	0.44152	.		0.294	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Intron	30	173	0	0	0	1	0	30	173					G	235359344	A	G	235359344	5	3	79	1	0	0	0	0	0	0	1	0	920	405	14	4	2038	4	ARID4B	1	235359344	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13888	235359344	13891277	1957	12274											
ARID4B	51742	broad.mit.edu	37	chr1	235359427	235359427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctttaatccattcatcGtatctaaaattaaaggaaat	4	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	615					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCATTCATCGTATCTAAAAT	0.274																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1843-1845)taC>taT		AT rich interactive domain 4B (RBP1-like)							75	74	74					1																	235359427		2200	4293	6493	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235359427G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1845C>T	1.37:g.235359427G>A						ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		18	2342	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	615					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1845C>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107998	0.08780	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.45	-0.742	0.11108	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53968	-0.8363	4	.	.	.	-14.7718	10.9931	0.47561	0.5709:0.0:0.4291:0.0	.	.	.	.	M	15	.	.	T	-	2	0	ARID4B	233426050	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.752000	0.26362	-0.085000	0.12573	-0.482000	0.04802	ACG		0.274	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		30	189	0	0	0	1	0	30	189					A	235359427	G	A	235359427	2	1	79	1	0	0	0	0	0	0	0	1	920	1140	40	1		1	ARID4B	1	235359427	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	235359427	13891194	1958	12275											
ARID4B	51742	broad.mit.edu	37	chr1	235377308	235377308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttctgcttcttcAtcatcttcatcttcttcttt	1	15	10	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235377308A>G	ENST00000264183.3	-	17	2114	c.1617T>C	c.(1615-1617)gaT>gaC	p.D539D	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.D539D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	539	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ctgcttcttcatcatcttcat	0.383																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1615-1617)gaT>gaC		AT rich interactive domain 4B (RBP1-like)							124	117	119					1																	235377308		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377308A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1617T>C	1.37:g.235377308A>G						ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.D539D	p.D539D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2114	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	539			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1617T>C	CCDS31061.1																																																																																				0.383	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		11	357	0	0	0	1	0	11	357					G	235377308	A	G	235377308	2	3	79	1	0	0	0	0	0	0	0	1	920	214	8	4		4	ARID4B	1	235377308	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17881	235377308	13873313	1959	12276											
B3GALNT2	148789	broad.mit.edu	37	chr1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggcagggtaagcggggCtcgggtactccaactcctgc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	404					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1210-1212)aGc>aAc		beta-1,3-N-acetylgalactosaminyltransferase 2							73	68	69					1																	235617568		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235617568C>T	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1211G>A	1.37:g.235617568C>T	ENSP00000355559:p.Ser404Asn						p.S404N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		10	1439	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	404					Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.1211G>A	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318292	0.95682	.	.	ENSG00000162885	ENST00000366600	T	0.55052	0.54	5.93	5.93	0.95920	.	0.123054	0.85682	D	0.000000	T	0.71970	0.3403	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68006	-0.5523	10	0.41790	T	0.15	-18.5104	20.3398	0.98759	0.0:1.0:0.0:0.0	.	404	Q8NCR0	B3GL2_HUMAN	N	404	ENSP00000355559:S404N	ENSP00000355559:S404N	S	-	2	0	B3GALNT2	233684191	1.000000	0.71417	0.094000	0.20943	0.860000	0.49131	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	AGC		0.507	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		60	356	0	0	0	1	0	60	356					T	235617568	C	T	235617568	3	4	79	1	0	0	0	0	1	0	0	0	1247	797	28	2	303	2	B3GALNT2	1	235617568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240260	235617568	13633053	1960	12277											
B3GALNT2	148789	broad.mit.edu	37	chr1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaactcacgctgacaactcGatcctcaggcagccccgatg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	143					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(427-429)Cga>Tga		beta-1,3-N-acetylgalactosaminyltransferase 2							182	175	177					1																	235647766		2203	4300	6503	SO:0001587	stop_gained	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647766G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.427C>T	1.37:g.235647766G>A	ENSP00000355559:p.Arg143*					B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000478199.1_5'UTR	p.R143*	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	655	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	143					Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	37	c.427C>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163459	0.97338	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	.	0.909002	0.09563	N	0.785247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8663	11.6206	0.51115	0.0:0.0:0.7763:0.2237	.	.	.	.	X	184;143;184	.	ENSP00000315678:R184X	R	-	1	2	B3GALNT2	233714389	0.992000	0.36948	0.943000	0.38184	0.574000	0.36063	2.212000	0.42835	2.582000	0.87167	0.655000	0.94253	CGA		0.448	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		244	741	0	0	0	1	0	244	741					A	235647766	G	A	235647766	4	1	79	1	0	0	0	0	0	1	0	0	1247	1066	37	1	1111	1	B3GALNT2	1	235647766	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30198	235647766	13602855	1961	12278											
LYST	1130	broad.mit.edu	37	chr1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcgctgctggtccttccGacaccaggcaatcacggtcc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000389793.2_Missense_Mutation_p.R3780W|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3780					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGTCCTTCCGACACCAGGCA	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(11338-11340)Cgg>Tgg		lysosomal trafficking regulator							112	114	113					1																	235826308		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235826308G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11338C>T	1.37:g.235826308G>A	ENSP00000374444:p.Arg3780Trp					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W	p.R3780W			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		53	11512	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3780					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.11338C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974511	0.92919	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28666	1.6;1.6	5.87	4.94	0.65067	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056042	0.64402	D	0.000001	T	0.41143	0.1146	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48433	-0.9036	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:0.8655:0.1345	.	3780	Q99698	LYST_HUMAN	W	3780	ENSP00000374444:R3780W;ENSP00000374443:R3780W	ENSP00000374443:R3780W	R	-	1	2	LYST	233892931	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.789000	0.85783	1.443000	0.47586	0.655000	0.94253	CGG		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			161	506	0	0	0	1	0	161	506					A	235826308	G	A	235826308	3	1	79	1	0	0	0	0	1	0	0	0	9167	1057	37	1	71	1	LYST	1	235826308	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178542	235826308	13424313	1962	12279											
LYST	1130	broad.mit.edu	37	chr1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttgcttggctagggttctCttggctcattctccgttgca	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2629					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAGGGTTCTCTTGGCTCATT	0.438																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(7885-7887)Gag>Aag		lysosomal trafficking regulator							167	136	146					1																	235909723		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235909723C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7885G>A	1.37:g.235909723C>T	ENSP00000374444:p.Glu2629Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E2629K	p.E2629K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		29	8059	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2629					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.7885G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763587	0.69878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.70595	2.14	0.80722	D	1	P	0.38617	0.64	B	0.33960	0.173	T	0.66937	-0.5797	10	0.45353	T	0.12	.	18.7145	0.91670	0.0:1.0:0.0:0.0	.	2629	Q99698	LYST_HUMAN	K	2629	ENSP00000374444:E2629K;ENSP00000374443:E2629K	ENSP00000374443:E2629K	E	-	1	0	LYST	233976346	1.000000	0.71417	0.859000	0.33776	0.424000	0.31475	7.420000	0.80191	2.413000	0.81919	0.591000	0.81541	GAG		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			72	318	0	0	0	1	0	72	318					T	235909723	C	T	235909723	3	4	79	1	0	0	0	0	1	0	0	0	9167	922	32	2	3620	2	LYST	1	235909723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83415	235909723	13340898	1963	12280											
LYST	1130	broad.mit.edu	37	chr1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatatgaatacatccttcttCtatgagtctttcaccaggat	5	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1533					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCCTTCTTCTATGAGTCTT	0.393																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4597-4599)Gaa>Aaa		lysosomal trafficking regulator							100	90	93					1																	235952092		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952092C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4597G>A	1.37:g.235952092C>T	ENSP00000374444:p.Glu1533Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR	p.E1533K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4771	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1533					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4597G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288043	0.95517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.49	5.49	0.81192	.	5.737730	0.00166	N	0.000009	T	0.76054	0.3934	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.52909	0.713	T	0.61691	-0.7011	10	0.48119	T	0.1	.	17.5709	0.87934	0.0:1.0:0.0:0.0	.	1533	Q99698	LYST_HUMAN	K	1533	ENSP00000374444:E1533K;ENSP00000374443:E1533K	ENSP00000374443:E1533K	E	-	1	0	LYST	234018715	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.646000	0.74348	2.585000	0.87301	0.563000	0.77884	GAA		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			58	159	0	0	0	1	0	58	159					T	235952092	C	T	235952092	3	4	79	1	0	0	0	0	1	0	0	0	9167	922	32	2	6972	2	LYST	1	235952092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42369	235952092	13298529	1964	12281											
LYST	1130	broad.mit.edu	37	chr1	235955384	235955384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagggctcatagtagtAtcactttcaataattttcag	8	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1386					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATAGTAGTATCACTTTCAA	0.323																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4156-4158)gaT>gaC		lysosomal trafficking regulator							62	66	65					1																	235955384		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955384A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4158T>C	1.37:g.235955384A>G						LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron	p.D1386D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4332	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1386					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4158T>C	CCDS31062.1																																																																																				0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			71	335	0	0	0	1	0	71	335					G	235955384	A	G	235955384	2	3	79	1	0	0	0	0	0	0	0	1	9167	446	16	4		4	LYST	1	235955384	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3292	235955384	13295237	1965	12282											
LYST	1130	broad.mit.edu	37	chr1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccccttgagtgaggttttCgagtaagtcatttggactgc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1259					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAGGTTTTCGAGTAAGTCA	0.383																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3775-3777)Gaa>Aaa		lysosomal trafficking regulator							104	107	106					1																	235964335		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964335C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3775G>A	1.37:g.235964335C>T	ENSP00000374444:p.Glu1259Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K	p.E1259K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	3949	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1259					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3775G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488528	0.84854	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.15	5.86	4.95	0.65309	.	0.382888	0.30630	N	0.009210	T	0.71634	0.3363	L	0.43152	1.355	0.42271	D	0.992054	D;P	0.89917	1.0;0.528	D;B	0.80764	0.994;0.031	T	0.73566	-0.3942	10	0.52906	T	0.07	.	13.5533	0.61745	0.0:0.928:0.0:0.072	.	1259;1259	Q99698-3;Q99698	.;LYST_HUMAN	K	1259	ENSP00000374444:E1259K;ENSP00000374443:E1259K;ENSP00000438315:E1259K	ENSP00000374443:E1259K	E	-	1	0	LYST	234030958	0.869000	0.29996	0.800000	0.32199	0.934000	0.57294	1.500000	0.35682	1.617000	0.50277	0.650000	0.86243	GAA		0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			67	387	0	0	0	1	0	67	387					T	235964335	C	T	235964335	3	4	79	1	0	0	0	0	1	0	0	0	9167	893	31	1	7810	1	LYST	1	235964335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8951	235964335	13286286	1966	12283											
LYST	1130	broad.mit.edu	37	chr1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgaggcatctttctgttgCtcccctaggctgattatcag	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	829					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCTGTTGCTCCCCTAGGC	0.378																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2485-2487)gaG>gaT		lysosomal trafficking regulator							208	198	202					1																	235969949		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969949C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2487G>T	1.37:g.235969949C>A	ENSP00000374444:p.Glu829Asp					LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D	p.E829D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2661	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	829					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2487G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920571	0.33908	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63744	-0.06;-0.06;1.09	5.44	-1.1	0.09872	.	0.686203	0.15663	N	0.250785	T	0.66567	0.2802	L	0.57536	1.79	0.30384	N	0.781676	D;B	0.76494	0.999;0.004	D;B	0.79784	0.993;0.006	T	0.60821	-0.7187	10	0.34782	T	0.22	.	3.4377	0.07452	0.1084:0.3777:0.1108:0.4031	.	829;829	Q99698-3;Q99698	.;LYST_HUMAN	D	829	ENSP00000374444:E829D;ENSP00000374443:E829D;ENSP00000438315:E829D	ENSP00000374443:E829D	E	-	3	2	LYST	234036572	0.003000	0.15002	0.994000	0.49952	0.993000	0.82548	-1.448000	0.02394	-0.148000	0.11234	-0.312000	0.09012	GAG		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			239	839	1	0	5.63013e-107	1	7.24577e-107	239	839					A	235969949	C	A	235969949	3	1	79	1	0	0	0	0	1	0	0	0	9167	796	28	3	9110	3	LYST	1	235969949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5614	235969949	13280672	1967	12284											
LYST	1130	broad.mit.edu	37	chr1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatttaagcaatttaattCgattatttgacttactccat	3	8	0	1	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E805K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318																																						ENST00000389794.3																			1	Substitution - Missense(1)	p.E805K(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	GRCh37	CD075459	LYST	D	rs80338647	c.(2413-2415)Gaa>Aaa		lysosomal trafficking regulator							67	65	66					1																	235970023		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235970023C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2413G>A	1.37:g.235970023C>T	ENSP00000374444:p.Glu805Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K	p.E805K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2587	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	805					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2413G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	LYST	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA		0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			39	371	0	0	0	1	0	39	371					T	235970023	C	T	235970023	3	4	79	1	0	0	0	0	1	0	0	0	9167	893	31	1	9184	1	LYST	1	235970023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	235970023	13280598	1968	12285											
LYST	1130	broad.mit.edu	37	chr1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccactgctgggcaggaTcccttgaaatctgtaagaag	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	677					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGGCAGGATCCCTTGAAAT	0.408																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2029-2031)Atc>Gtc		lysosomal trafficking regulator							85	89	88					1																	235972089		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972089T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2029A>G	1.37:g.235972089T>C	ENSP00000374444:p.Ile677Val					LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V	p.I677V			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2203	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	677					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2029A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017098	0.35606	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68624	-0.34;-0.34;1.11	5.4	4.28	0.50868	.	0.289633	0.33023	N	0.005373	T	0.60366	0.2263	M	0.62723	1.935	0.48511	D	0.999667	B;B	0.17038	0.005;0.02	B;B	0.16289	0.01;0.015	T	0.53479	-0.8433	10	0.19147	T	0.46	.	11.144	0.48419	0.0:0.0727:0.0:0.9273	.	677;677	Q99698-3;Q99698	.;LYST_HUMAN	V	677	ENSP00000374444:I677V;ENSP00000374443:I677V;ENSP00000438315:I677V	ENSP00000374443:I677V	I	-	1	0	LYST	234038712	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.213000	0.51153	0.890000	0.36211	0.533000	0.62120	ATC		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			64	289	0	0	0	1	0	64	289					C	235972089	T	C	235972089	3	2	79	1	0	0	0	0	1	0	0	0	9167	1435	50	4	9572	4	LYST	1	235972089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2066	235972089	13278532	1969	12286											
LYST	1130	broad.mit.edu	37	chr1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcaacactgttcgaAagagcatcctttgaatcaaa	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	328					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGTTCGAAAGAGCATCCT	0.448																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(982-984)tTt>tGt		lysosomal trafficking regulator							46	44	45					1																	235973135		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973135A>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.983T>G	1.37:g.235973135A>C	ENSP00000374444:p.Phe328Cys					LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C	p.F328C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1157	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	328					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.983T>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175695	0.57692	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15017	2.46;2.46;2.46	5.49	3.12	0.35913	.	0.194698	0.47455	D	0.000228	T	0.27241	0.0668	L	0.44542	1.39	0.32441	N	0.546732	D;D	0.76494	0.999;0.996	D;P	0.65443	0.935;0.847	T	0.26950	-1.0088	10	0.87932	D	0	.	7.258	0.26187	0.7988:0.0:0.0706:0.1306	.	328;328	Q99698-3;Q99698	.;LYST_HUMAN	C	328	ENSP00000374444:F328C;ENSP00000374443:F328C;ENSP00000438315:F328C	ENSP00000374443:F328C	F	-	2	0	LYST	234039758	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.269000	0.65542	0.980000	0.38523	0.533000	0.62120	TTT		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			64	154	0	0	0	1	0	64	154					C	235973135	A	C	235973135	3	2	79	1	0	0	0	0	1	0	0	0	9167	14	1	4	10618	4	LYST	1	235973135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1046	235973135	13277486	1970	12287											
NID1	4811	broad.mit.edu	37	chr1	236141260	236141260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcataggtgggtgcagccGccattgttcactgagcagta	13	9	1	1	rs373795201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1217	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.G1217G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16734	0.0		0.0	False		,,,				2504	0.001					ENST00000264187.6																			1	Substitution - coding silent(1)	p.G1217G(1)	large_intestine(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(3649-3651)ggC>ggT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	G		0,4406		0,0,2203	76	75	75		3651	-11.4	0.2	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID1	NM_002508.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1217/1248	236141260	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236141260G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3651C>T	1.37:g.236141260G>A						NID1_ENST00000366595.3_Silent_p.G1084G	p.G1217G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		20	3733	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	1217			EGF-like 6.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.3651C>T	CCDS1608.1																																																																																				0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		37	331	0	0	0	1	0	37	331					A	236141260	G	A	236141260	2	1	79	1	0	0	0	0	0	0	0	1	10456	1074	38	1		1	NID1	1	236141260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168125	236141260	13109361	1971	12288											
NID1	4811	broad.mit.edu	37	chr1	236157030	236157030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtagccggtgctgccGtggcactgggtgggcgcgta	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	890	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2668-2670)caC>caT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						25	25	25					1																	236157030		2202	4299	6501	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157030G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2670C>T	1.37:g.236157030G>A						NID1_ENST00000366595.3_Silent_p.H757H	p.H890H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2752	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	890			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2670C>T	CCDS1608.1																																																																																				0.711	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		47	125	0	0	0	1	0	47	125					A	236157030	G	A	236157030	2	1	79	1	0	0	0	0	0	0	0	1	10456	1136	40	1		1	NID1	1	236157030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15770	236157030	13093591	1972	12289											
NID1	4811	broad.mit.edu	37	chr1	236157147	236157147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaatgtgttctcgctcGtgctggcaccgggttttctc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2551-2553)caC>caT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						28	29	29					1																	236157147		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157147G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2553C>T	1.37:g.236157147G>A						NID1_ENST00000366595.3_Silent_p.H718H	p.H851H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2635	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	851			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2553C>T	CCDS1608.1																																																																																				0.627	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		13	192	0	0	0	1	0	13	192					A	236157147	G	A	236157147	2	1	79	1	0	0	0	0	0	0	0	1	10456	1136	40	1		1	NID1	1	236157147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	236157147	13093474	1973	12290											
NID1	4811	broad.mit.edu	37	chr1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgtggtgcccacatcCtccaggcccagacgagtggt	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(916-918)gaG>gaT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						149	132	138					1																	236205427		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205427C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.918G>T	1.37:g.236205427C>A	ENSP00000264187:p.Glu306Asp					NID1_ENST00000366595.3_Missense_Mutation_p.E306D	p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1000	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	306					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.918G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	1.974	-0.435723	0.04636	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88277	-1.7;-2.36	5.81	0.73	0.18271	.	1.175610	0.05899	N	0.629702	T	0.80287	0.4595	N	0.25890	0.77	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.61317	-0.7087	10	0.22109	T	0.4	.	5.3998	0.16288	0.0:0.507:0.1321:0.361	.	306;306	P14543-2;P14543	.;NID1_HUMAN	D	306	ENSP00000264187:E306D;ENSP00000355554:E306D	ENSP00000264187:E306D	E	-	3	2	NID1	234272050	0.002000	0.14202	0.028000	0.17463	0.143000	0.21401	-0.349000	0.07731	-0.103000	0.12175	0.563000	0.77884	GAG		0.607	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		222	662	1	0	3.02832e-84	1	3.87969e-84	222	662					A	236205427	C	A	236205427	3	1	79	1	0	0	0	0	1	0	0	0	10456	680	24	3	2893	3	NID1	1	236205427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48280	236205427	13045194	1974	12291											
NID1	4811	broad.mit.edu	37	chr1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctggaaagagatctccGggaaccctctgtggacacac	12	11	2	1	rs200351205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	143	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(427-429)cCg>cTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	G	LEU/PRO	0,4406		0,0,2203	59	61	60		428	3.9	0.9	1		60	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID1	NM_002508.2	98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	143/1248	236212087	4,13002	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212087G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.428C>T	1.37:g.236212087G>A	ENSP00000264187:p.Pro143Leu					NID1_ENST00000366595.3_Missense_Mutation_p.P143L	p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	510	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	143			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.428C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257823	0.59321	0.0	4.65E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.23348	1.91;1.91	4.81	3.9	0.45041	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.817	T	0.57991	-0.7715	10	0.66056	D	0.02	.	13.0868	0.59146	0.0774:0.0:0.9226:0.0	.	143;143	P14543-2;P14543	.;NID1_HUMAN	L	143	ENSP00000264187:P143L;ENSP00000355554:P143L	ENSP00000264187:P143L	P	-	2	0	NID1	234278710	1.000000	0.71417	0.862000	0.33874	0.736000	0.42039	6.526000	0.73799	1.255000	0.44051	0.655000	0.94253	CCG		0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		83	218	0	0	0	1	0	83	218					A	236212087	G	A	236212087	3	1	79	1	0	0	0	0	1	0	0	0	10456	1116	39	1	3391	1	NID1	1	236212087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6660	236212087	13038534	1975	12292											
NID1	4811	broad.mit.edu	37	chr1	236212173	236212173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccttccccaggccatcGgtcgtgtccaagtccgccag	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212173G>A	ENST00000264187.6	-	2	424	c.342C>T	c.(340-342)acC>acT	p.T114T	NID1_ENST00000366595.3_Silent_p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	114	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCAGGCCATCGGTCGTGTCCA	0.572																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(340-342)acC>acT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						65	71	69					1																	236212173		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212173G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.342C>T	1.37:g.236212173G>A						NID1_ENST00000366595.3_Silent_p.T114T	p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	424	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	114			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.342C>T	CCDS1608.1																																																																																				0.572	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		17	414	0	0	0	1	0	17	414					A	236212173	G	A	236212173	2	1	79	1	0	0	0	0	0	0	0	1	10456	1103	39	1		1	NID1	1	236212173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	236212173	13038448	1976	12293											
GPR137B	7107	broad.mit.edu	37	chr1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttccagggctcctccGtgtgtcaagtgactgccatc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	233						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGCTCCTCCGTGTGTCAAGT	0.552																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(697-699)Gtg>Atg		G protein-coupled receptor 137B							223	188	200					1																	236343188		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236343188G>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.697G>A	1.37:g.236343188G>A	ENSP00000355551:p.Val233Met					GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	p.V233M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	788	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	233					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.697G>A	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635166	0.67130	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.52526	0.66;1.99;0.74	5.52	5.52	0.82312	.	0.055961	0.64402	D	0.000001	T	0.70168	0.3193	M	0.72118	2.19	0.43043	D	0.994631	B;D	0.89917	0.063;1.0	B;D	0.87578	0.019;0.998	T	0.72077	-0.4399	10	0.72032	D	0.01	-15.3153	19.8119	0.96549	0.0:0.0:1.0:0.0	.	96;233	Q5TAF1;O60478	.;G137B_HUMAN	M	233;142;232;15	ENSP00000355551:V233M;ENSP00000355550:V142M;ENSP00000401841:V15M	ENSP00000355550:V142M	V	+	1	0	GPR137B	234409811	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.482000	0.81143	2.756000	0.94617	0.563000	0.77884	GTG		0.552	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		193	622	0	0	0	1	0	193	622					A	236343188	G	A	236343188	3	1	79	1	0	0	0	0	1	0	0	0	6675	1145	40	1	711	1	GPR137B	1	236343188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131015	236343188	12907433	1977	12294											
GPR137B	7107	broad.mit.edu	37	chr1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttccgagttagaaatcCtacaaaggaccttgtaagta	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	318						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTAGAAATCCTACAAAGGAC	0.363																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(952-954)cCt>cAt		G protein-coupled receptor 137B							117	114	115					1																	236347193		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236347193C>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.953C>A	1.37:g.236347193C>A	ENSP00000355551:p.Pro318His					GPR137B_ENST00000477559.1_3'UTR	p.P318H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	1044	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	318					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.953C>A	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748292|3.748292	0.69533|0.69533	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54866	.|0.55;0.7	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.110179	.|0.64402	.|D	.|0.000006	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.975;0.996	.|P;P	.|0.60345	.|0.81;0.873	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.87932	.|D	.|0	-3.3371|-3.3371	19.3356|19.3356	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;318	.|Q5TAF1;O60478	.|.;G137B_HUMAN	I|H	182|318;317;100	.|ENSP00000355551:P318H;ENSP00000401841:P100H	.|ENSP00000355551:P318H	L|P	+|+	1|2	2|0	GPR137B|GPR137B	234413816|234413816	0.999000|0.999000	0.42202|0.42202	0.016000|0.016000	0.15963|0.15963	0.723000|0.723000	0.41478|0.41478	7.345000|7.345000	0.79337|0.79337	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	CTA|CCT		0.363	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		22	277	1	0	1.9806e-07	1	2.05782e-07	22	277					A	236347193	C	A	236347193	3	1	79	1	0	0	0	0	1	0	0	0	6675	681	24	3	971	3	GPR137B	1	236347193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4005	236347193	12903428	1978	12295											
ERO1LB	56605	broad.mit.edu	37	chr1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccacctttgacaaagctCgaagctcaatcaagtataaa	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	312					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)			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)	TGACAAAGCTCGAAGCTCAAT	0.393																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(934-936)cGa>cAa		ERO1-like beta (S. cerevisiae)							97	99	98					1																	236389686		2203	4300	6503	SO:0001583	missense	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.chr1:236389686C>T	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.935G>A	1.37:g.236389686C>T	ENSP00000346635:p.Arg312Gln						p.R312Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	1136	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	312					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.935G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006348	0.93287	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.53423	0.62;0.62	5.53	4.6	0.57074	.	0.060072	0.64402	D	0.000002	T	0.69869	0.3159	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73344	-0.4012	10	0.54805	T	0.06	-11.3801	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	312	Q86YB8	ERO1B_HUMAN	Q	312;37	ENSP00000346635:R312Q;ENSP00000264181:R37Q	ENSP00000264181:R37Q	R	-	2	0	ERO1LB	234456309	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	CGA		0.393	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		120	262	0	0	0	1	0	120	262					T	236389686	C	T	236389686	3	4	79	1	0	0	0	0	1	0	0	0	5258	884	31	1	488	1	ERO1LB	1	236389686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42493	236389686	12860935	1979	12296											
ERO1LB	56605	broad.mit.edu	37	chr1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaggacgataaacagatCgaggcctgaaaaagaaagca	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					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)			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)	ATAAACAGATCGAGGCCTGAA	0.343																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(631-633)cGa>cAa		ERO1-like beta (S. cerevisiae)							67	69	68					1																	236399130		2202	4300	6502	SO:0001583	missense	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.chr1:236399130C>T	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.632G>A	1.37:g.236399130C>T	ENSP00000346635:p.Arg211Gln						p.R211Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	833	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	211					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.632G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474928	0.43942	.	.	ENSG00000086619	ENST00000354619	T	0.41758	0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05306	-0.075	0.80722	D	1	B	0.22080	0.064	B	0.20955	0.032	T	0.16660	-1.0395	10	0.06236	T	0.91	-11.014	20.2366	0.98359	0.0:1.0:0.0:0.0	.	211	Q86YB8	ERO1B_HUMAN	Q	211	ENSP00000346635:R211Q	ENSP00000346635:R211Q	R	-	2	0	ERO1LB	234465753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	CGA		0.343	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		8	270	0	0	0	1	0	8	270					T	236399130	C	T	236399130	3	4	79	1	0	0	0	0	1	0	0	0	5258	884	31	1	807	1	ERO1LB	1	236399130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9444	236399130	12851491	1980	12297											
ERO1LB	56605	broad.mit.edu	37	chr1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttattagaatgcccagCttttattccaaccggaattt	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	111					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)			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)	GAATGCCCAGCTTTTATTCCA	0.323																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(331-333)Gct>Act		ERO1-like beta (S. cerevisiae)							103	104	104					1																	236415367		2203	4300	6503	SO:0001583	missense	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.chr1:236415367C>T	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.331G>A	1.37:g.236415367C>T	ENSP00000346635:p.Ala111Thr					ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	532	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	111					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.331G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925860	0.73213	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.82081	-1.57;0.93	5.77	5.77	0.91146	.	0.054456	0.85682	D	0.000000	D	0.83801	0.5333	L	0.41824	1.3	0.49130	D	0.999751	P;B	0.52842	0.956;0.1	P;B	0.53006	0.715;0.155	T	0.80118	-0.1516	10	0.22706	T	0.39	-16.869	18.7696	0.91885	0.0:1.0:0.0:0.0	.	111;111	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	111	ENSP00000346635:A111T;ENSP00000377574:A111T	ENSP00000377574:A111T	A	-	1	0	ERO1LB	234481990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.729000	0.93468	0.655000	0.94253	GCT		0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		77	249	0	0	0	1	0	77	249					T	236415367	C	T	236415367	3	4	79	1	0	0	0	0	1	0	0	0	5258	797	28	2	1124	2	ERO1LB	1	236415367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16237	236415367	12835254	1981	12298											
LGALS8	3964	broad.mit.edu	37	chr1	236706282	236706282	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacaccaagagcaaagattCgactgtcaatcacactttga	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236706282C>T	ENST00000366584.4	+	7	1115				LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000526589.1_Missense_Mutation_p.S206L|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8						plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCAAAGATTCGACTGTCAAT	0.378																																						ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(616-618)tCg>tTg		lectin, galactoside-binding, soluble, 8							119	113	115					1																	236706282		2203	4300	6503	SO:0001627	intron_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236706282C>T	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.549+195C>T	1.37:g.236706282C>T						LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron	p.S206L			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1137	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	183			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.617C>T	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	C	4.511	0.094836	0.08681	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	T;T;T;T;T;T;T	0.05925	3.68;3.68;3.37;3.68;3.68;3.61;3.61	4.36	3.45	0.39498	.	0.716365	0.13239	N	0.402993	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P;B	0.47350	0.894;0.007	B;B	0.37239	0.244;0.003	T	0.33369	-0.9871	10	0.11182	T	0.66	.	8.3519	0.32307	0.0:0.8947:0.0:0.1053	.	147;206	F6V2D4;O00214-2	.;.	L	206;206;206;206;206;147;147	ENSP00000431398:S206L;ENSP00000309576:S206L;ENSP00000385999:S206L;ENSP00000435460:S206L;ENSP00000408657:S206L;ENSP00000410843:S147L;ENSP00000431884:S147L	ENSP00000309576:S206L	S	+	2	0	LGALS8	234772905	0.011000	0.17503	0.089000	0.20774	0.706000	0.40770	1.002000	0.29796	1.438000	0.47492	0.655000	0.94253	TCG		0.378	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		96	331	0	0	0	1	0	96	331					T	236706282	C	T	236706282	1	4	79	0	1	0	0	0	0	0	0	0	8779	893	31	1		1	LGALS8	1	236706282	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290915	236706282	12544339	1982	12299											
HEATR1	55127	broad.mit.edu	37	chr1	236715314	236715314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaccttccatcaactctgCtaagaaaggaatggattctg	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236715314C>T	ENST00000366582.3	-	44	6445	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2111					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)			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)			ATCAACTCTGCTAAGAAAGGA	0.358																																						ENST00000366582.3																			0				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						c.(6331-6333)Gca>Aca		HEAT repeat containing 1							146	148	147					1																	236715314		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236715314C>T	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.6331G>A	1.37:g.236715314C>T	ENSP00000355541:p.Ala2111Thr					HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T|LGALS8_ENST00000526589.1_3'UTR	p.A2111T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		44	6445	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2111					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.6331G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151273	0.94645	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64618	-0.11;-0.11	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.163822	0.52532	D	0.000061	T	0.80597	0.4653	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.75020	0.898;0.985	T	0.83237	-0.0060	10	0.87932	D	0	.	18.6314	0.91361	0.0:1.0:0.0:0.0	.	2030;2111	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	2111;2030	ENSP00000355541:A2111T;ENSP00000355540:A2030T	ENSP00000355540:A2030T	A	-	1	0	HEATR1	234781937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.700000	0.92200	0.655000	0.94253	GCA		0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	634	0	0	0	1	0	11	634					T	236715314	C	T	236715314	3	4	79	1	0	0	0	0	1	0	0	0	7057	797	28	2	111	2	HEATR1	1	236715314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9032	236715314	12535307	1983	12300											
HEATR1	55127	broad.mit.edu	37	chr1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctacgaacttcttttAcggggcttcccaggttaatg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	931					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)			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)			AACTTCTTTTACGGGGCTTCC	0.373																																						ENST00000366582.3																			0				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						c.(2791-2793)gTa>gCa		HEAT repeat containing 1							64	69	67					1																	236740213		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236740213A>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.2792T>C	1.37:g.236740213A>G	ENSP00000355541:p.Val931Ala					HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		21	2906	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	931					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2792T>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	8.980	0.975030	0.18736	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.13	5.36	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (2);	0.567431	0.18886	N	0.128438	T	0.48003	0.1476	L	0.46157	1.445	0.50813	D	0.999894	B;P	0.45768	0.163;0.866	B;B	0.33254	0.037;0.16	T	0.38972	-0.9636	10	0.28530	T	0.3	.	10.9493	0.47319	0.9265:0.0:0.0735:0.0	.	931;931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	931	ENSP00000355541:V931A;ENSP00000355540:V931A	ENSP00000355540:V931A	V	-	2	0	HEATR1	234806836	0.825000	0.29262	0.015000	0.15790	0.733000	0.41908	5.962000	0.70364	0.891000	0.36235	0.379000	0.24179	GTA		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		25	486	0	0	0	1	0	25	486					G	236740213	A	G	236740213	3	3	79	1	0	0	0	0	1	0	0	0	7057	391	14	4	3742	4	HEATR1	1	236740213	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24899	236740213	12510408	1984	12301											
HEATR1	55127	broad.mit.edu	37	chr1	236744595	236744595	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcattgcacagcccacataAagagcttgagtctgcagcac	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	894					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)			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)			AGCCCACATAAAGAGCTTGAG	0.393																																						ENST00000366582.3																			0				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						c.(2680-2682)ctT>ctG		HEAT repeat containing 1							168	161	164					1																	236744595		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744595A>C	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.2682T>G	1.37:g.236744595A>C						HEATR1_ENST00000366581.2_Silent_p.L894L	p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2796	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	894					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2682T>G	CCDS31066.1																																																																																				0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		214	538	0	0	0	1	0	214	538					C	236744595	A	C	236744595	2	2	79	1	0	0	0	0	0	0	0	1	7057	1	1	4		4	HEATR1	1	236744595	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4382	236744595	12506026	1985	12302											
HEATR1	55127	broad.mit.edu	37	chr1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaactgaagactcttatcGcaaatggaaagtgggtttct	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	726					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)			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)			GACTCTTATCGCAAATGGAAA	0.398																																						ENST00000366582.3																			0				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						c.(2176-2178)gCg>gTg		HEAT repeat containing 1							105	105	105					1																	236748389		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236748389G>A	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.2177C>T	1.37:g.236748389G>A	ENSP00000355541:p.Ala726Val					HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		17	2291	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	726					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2177C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277165	0.59758	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	0.01;-0.23	6.08	6.08	0.98989	Armadillo-type fold (1);	0.102560	0.64402	D	0.000003	T	0.63058	0.2479	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	B	0.25614	0.062	T	0.68025	-0.5518	10	0.72032	D	0.01	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	726	Q9H583	HEAT1_HUMAN	V	726	ENSP00000355541:A726V;ENSP00000355540:A726V	ENSP00000355540:A726V	A	-	2	0	HEATR1	234815012	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	4.452000	0.60054	2.894000	0.99253	0.591000	0.81541	GCG		0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		21	410	0	0	0	1	0	21	410					A	236748389	G	A	236748389	3	1	79	1	0	0	0	0	1	0	0	0	7057	1087	38	1	4373	1	HEATR1	1	236748389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	236748389	12502232	1986	12303											
HEATR1	55127	broad.mit.edu	37	chr1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagcctcttaatagagGgtgcagggagcagattcctg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					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)			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)			CTTAATAGAGGGTGCAGGGAG	0.308																																						ENST00000366582.3																			0				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						c.(1903-1905)Cct>Act		HEAT repeat containing 1							40	42	41					1																	236749565		2202	4300	6502	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749565G>T	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.1903C>A	1.37:g.236749565G>T	ENSP00000355541:p.Pro635Thr					HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		15	2017	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	635					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1903C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615465	0.66672	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62105	0.05;0.05	5.42	4.51	0.55191	Armadillo-type fold (1);	0.103033	0.64402	D	0.000002	T	0.75443	0.3850	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74890	-0.3510	10	0.35671	T	0.21	.	14.2206	0.65823	0.0721:0.0:0.9279:0.0	.	635	Q9H583	HEAT1_HUMAN	T	635	ENSP00000355541:P635T;ENSP00000355540:P635T	ENSP00000355540:P635T	P	-	1	0	HEATR1	234816188	1.000000	0.71417	0.504000	0.27639	0.963000	0.63663	5.780000	0.68956	1.423000	0.47198	0.563000	0.77884	CCT		0.308	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		40	221	1	0	2.66277e-13	1	2.87267e-13	40	221					T	236749565	G	T	236749565	3	4	79	1	0	0	0	0	1	0	0	0	7057	1232	43	3	4655	3	HEATR1	1	236749565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	236749565	12501056	1987	12304											
HEATR1	55127	broad.mit.edu	37	chr1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagcaaagacactttattaGaatccatttcttcctgtgaa	5	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	415					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)			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)			CACTTTATTAGAATCCATTTC	0.289																																						ENST00000366582.3																			0				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						c.(1243-1245)tCt>tAt		HEAT repeat containing 1							61	53	56					1																	236755883		2197	4289	6486	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236755883G>T	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.1244C>A	1.37:g.236755883G>T	ENSP00000355541:p.Ser415Tyr					HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		10	1358	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	415					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1244C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512596	0.27123	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68624	3.36;-0.34	5.25	5.25	0.73442	Armadillo-type fold (1);	0.651120	0.15867	N	0.240715	T	0.65186	0.2667	L	0.50333	1.59	0.80722	D	1	P	0.45474	0.859	B	0.40101	0.319	T	0.70547	-0.4842	10	0.62326	D	0.03	.	18.8399	0.92180	0.0:0.0:1.0:0.0	.	415	Q9H583	HEAT1_HUMAN	Y	415	ENSP00000355541:S415Y;ENSP00000355540:S415Y	ENSP00000355540:S415Y	S	-	2	0	HEATR1	234822506	0.641000	0.27251	0.057000	0.19452	0.292000	0.27327	4.352000	0.59404	2.458000	0.83093	0.650000	0.86243	TCT		0.289	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	46	1	0	2.80697e-09	1	2.95087e-09	11	46					T	236755883	G	T	236755883	3	4	79	1	0	0	0	0	1	0	0	0	7057	942	33	3	5334	3	HEATR1	1	236755883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6318	236755883	12494738	1988	12305											
ACTN2	88	broad.mit.edu	37	chr1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A													agtgggaccgcgacctgctcCtggacccagcctgggagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	32	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(94-96)Ctg>Atg		actinin, alpha 2							45	40	42					1																	236850067		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236850067C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.94C>A	1.37:g.236850067C>A	ENSP00000355537:p.Leu32Met					ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	p.L32M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		1	260	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	32			Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.94C>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475923	0.63737	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62498	0.02;0.02	3.81	3.81	0.43845	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.75451	0.3851	M	0.86805	2.84	0.80722	D	1	D;P	0.54964	0.969;0.799	P;B	0.59595	0.86;0.226	T	0.78523	-0.2171	10	0.87932	D	0	.	7.4471	0.27217	0.0:0.8051:0.0:0.1949	.	32;32	B2RCS5;P35609	.;ACTN2_HUMAN	M	32	ENSP00000443495:L32M;ENSP00000355537:L32M	ENSP00000355537:L32M	L	+	1	2	ACTN2	234916690	0.868000	0.29978	0.996000	0.52242	0.932000	0.56968	1.658000	0.37376	1.944000	0.56390	0.462000	0.41574	CTG		0.692	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		37	141	1	0	2.40579e-17	1	2.65515e-17	37	141					A	236850067	C	A	236850067	3	1	79	1	0	0	0	0	1	0	0	0	205	680	24	3	96	3	ACTN2	1	236850067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94184	236850067	12400554	1989	12306	78	2									
ACTN2	88	broad.mit.edu	37	chr1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A													gcgacctgctcctggacccaGcctgggagaagcagcagagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	35	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(103-105)Gcc>Acc		actinin, alpha 2							42	37	38					1																	236850076		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236850076G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.103G>A	1.37:g.236850076G>A	ENSP00000355537:p.Ala35Thr					ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	p.A35T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		1	269	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	35			Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.103G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573356	0.86542	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59364	0.27;0.27	3.6	2.66	0.31614	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55743	1.74	0.80722	D	1	B;B	0.27559	0.181;0.03	B;B	0.35470	0.203;0.02	T	0.58629	-0.7603	10	0.87932	D	0	.	12.0331	0.53410	0.0:0.0:0.8257:0.1743	.	35;35	B2RCS5;P35609	.;ACTN2_HUMAN	T	35	ENSP00000443495:A35T;ENSP00000355537:A35T	ENSP00000355537:A35T	A	+	1	0	ACTN2	234916699	1.000000	0.71417	0.991000	0.47740	0.797000	0.45037	8.721000	0.91446	0.670000	0.31165	0.462000	0.41574	GCC		0.701	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		16	151	0	0	0	1	0	16	151					A	236850076	G	A	236850076	3	1	79	1	0	0	0	0	1	0	0	0	205	971	34	2	105	2	ACTN2	1	236850076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	236850076	12400545	1990	12307	78	2									
ACTN2	88	broad.mit.edu	37	chr1	236902766	236902766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagatcaacttcaacacGctgcagaccaagctgcggat	10	12	2	2	rs572167559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902766G>A	ENST00000366578.4	+	10	1207	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1039-1041)acG>acA		actinin, alpha 2							142	111	122					1																	236902766		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902766G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1041G>A	1.37:g.236902766G>A						ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	p.T347T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1207	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	347					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1041G>A	CCDS1613.1																																																																																				0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		63	326	0	0	0	1	0	63	326					A	236902766	G	A	236902766	2	1	79	1	0	0	0	0	0	0	0	1	205	1074	38	1		1	ACTN2	1	236902766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52690	236902766	12347855	1991	12308											
ACTN2	88	broad.mit.edu	37	chr1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgcagaccaagctgCggatcagcaaccgtcctgcc	10	16	1	1	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	353					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1057-1059)Cgg>Tgg		actinin, alpha 2							128	100	109					1																	236902782		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902782C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1057C>T	1.37:g.236902782C>T	ENSP00000355537:p.Arg353Trp					ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1223	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	353					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1057C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019319	0.75275	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70045	-0.45;-0.45	5.51	-1.38	0.09027	.	0.049402	0.64402	D	0.000001	D	0.84678	0.5525	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.989;0.916;0.996	D	0.89354	0.3663	10	0.87932	D	0	.	17.1506	0.86777	0.7646:0.2354:0.0:0.0	.	353;123;353	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	W	353;353;122	ENSP00000443495:R353W;ENSP00000355537:R353W	ENSP00000355537:R353W	R	+	1	2	ACTN2	234969405	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-1.101000	0.03336	0.089000	0.17243	0.555000	0.69702	CGG		0.612	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		55	269	0	0	0	1	0	55	269					T	236902782	C	T	236902782	3	4	79	1	0	0	0	0	1	0	0	0	205	759	27	1	1095	1	ACTN2	1	236902782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	236902782	12347839	1992	12309											
ACTN2	88	broad.mit.edu	37	chr1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcaagcaacccgtacaGcactgtcaccatggatgagc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	600					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1798-1800)aGc>aAc		actinin, alpha 2							113	95	101					1																	236914912		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236914912G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1799G>A	1.37:g.236914912G>A	ENSP00000355537:p.Ser600Asn					ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	p.S600N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		15	1965	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	600					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1799G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255226	0.80135	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	4.89	4.89	0.63831	.	0.250491	0.52532	D	0.000075	T	0.65873	0.2733	L	0.54323	1.7	0.58432	D	0.999996	B;B;B;P	0.45531	0.074;0.127;0.217;0.86	B;B;B;D	0.67382	0.31;0.386;0.405;0.951	T	0.68652	-0.5352	10	0.87932	D	0	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	385;600;370;600	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	600;600;94;369	ENSP00000443495:S600N;ENSP00000355537:S600N;ENSP00000438384:S94N	ENSP00000355537:S600N	S	+	2	0	ACTN2	234981535	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.701000	0.47094	2.265000	0.75225	0.563000	0.77884	AGC		0.582	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		49	270	0	0	0	1	0	49	270					A	236914912	G	A	236914912	3	1	79	1	0	0	0	0	1	0	0	0	205	971	34	2	1857	2	ACTN2	1	236914912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12130	236914912	12335709	1993	12310											
MTR	4548	broad.mit.edu	37	chr1	237013811	237013811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaattttatccatgcaacAaaagtcattaaagtaagtgt	5	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	561	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(1681-1683)acA>acG		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119	108	112					1																	237013811		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237013811A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1683A>G	1.37:g.237013811A>G						MTR_ENST00000535889.1_Silent_p.T561T	p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	16	2077	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	561			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.1683A>G	CCDS1614.1																																																																																				0.348	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		56	314	0	0	0	1	0	56	314					G	237013811	A	G	237013811	2	3	79	1	0	0	0	0	0	0	0	1	9999	117	5	4		4	MTR	1	237013811	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98899	237013811	12236810	1994	12311											
MTR	4548	broad.mit.edu	37	chr1	237054561	237054561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccaagacgacattcacCtgtacgcagaggctgctgtg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1046	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3136-3138)Ctg>Ttg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119	117	117					1																	237054561		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054561C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3136C>T	1.37:g.237054561C>T						MTR_ENST00000535889.1_Silent_p.L995L	p.L1046L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3530	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1046			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.3136C>T	CCDS1614.1																																																																																				0.552	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		184	603	0	0	0	1	0	184	603					T	237054561	C	T	237054561	2	4	79	1	0	0	0	0	0	0	0	1	9999	680	24	2		2	MTR	1	237054561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40750	237054561	12196060	1995	12312											
MTR	4548	broad.mit.edu	37	chr1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagaaggactctgccAgcacggagccatactactgc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1075	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3223-3225)Agc>Ggc		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						106	90	96					1																	237057675		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237057675A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3223A>G	1.37:g.237057675A>G	ENSP00000355536:p.Ser1075Gly					MTR_ENST00000535889.1_Missense_Mutation_p.S1024G|MTR_ENST00000470570.1_3'UTR	p.S1075G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	30	3617	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1075			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3223A>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574732	0.13623	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.31;-0.31;-1.67	5.47	4.27	0.50696	Vitamin B12-dependent methionine synthase, activation domain (3);	0.270973	0.39544	N	0.001330	T	0.71550	0.3353	L	0.29908	0.895	0.22896	N	0.998596	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59621	-0.7420	10	0.38643	T	0.18	-21.5817	8.9147	0.35574	0.6747:0.0:0.0:0.3253	.	1075;1024;1075	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	G	929;1075;1024;629	ENSP00000355536:S1075G;ENSP00000441845:S1024G;ENSP00000355535:S629G	ENSP00000355535:S629G	S	+	1	0	MTR	235124298	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.676000	0.54612	2.205000	0.71048	0.533000	0.62120	AGC		0.572	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		89	253	0	0	0	1	0	89	253					G	237057675	A	G	237057675	3	3	79	1	0	0	0	0	1	0	0	0	9999	188	7	4	3341	4	MTR	1	237057675	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3114	237057675	12192946	1996	12313											
RYR2	6262	broad.mit.edu	37	chr1	237729908	237729908	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaccggggaaaggttcCgaatcttccgtgccgagaag	15	11	1	1	rs371303783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1086	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			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)			GGAAAGGTTCCGAATCTTCCG	0.542																																						ENST00000366574.2																			0				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						c.(3256-3258)Cga>Aga		ryanodine receptor 2 (cardiac)							76	77	77					1																	237729908		1909	4134	6043	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.chr1:237729908C>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.3256C>A	1.37:g.237729908C>A						RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	p.R1086R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3573	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1086			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3256C>A	CCDS55691.1																																																																																				0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		98	218	1	0	3.21569e-47	1	3.95668e-47	98	218					A	237729908	C	A	237729908	2	1	79	1	0	0	0	0	0	0	0	1	13819	644	23	3		3	RYR2	1	237729908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672233	237729908	11520713	1997	12314											
RYR2	6262	broad.mit.edu	37	chr1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggagggctccctggggCtggcctttttgggcccaaga	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	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.A1323D(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)			CTCCCTGGGGCTGGCCTTTTT	0.522																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A1323D(1)	lung(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						c.(3973-3975)gCt>gAt		ryanodine receptor 2 (cardiac)							103	101	101					1																	237754106		1921	4130	6051	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.chr1:237754106C>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.3974C>A	1.37:g.237754106C>A	ENSP00000355533:p.Ala1325Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	p.A1325D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4291	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1325			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3974C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	RYR2	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		180	454	1	0	2.27171e-66	1	2.87454e-66	180	454					A	237754106	C	A	237754106	3	1	79	1	0	0	0	0	1	0	0	0	13819	797	28	3	4096	3	RYR2	1	237754106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24198	237754106	11496515	1998	12315											
RYR2	6262	broad.mit.edu	37	chr1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctcctcccttctacagatCtgttgacatcttagagttga	6	12	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1638	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)			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)			TTCTACAGATCTGTTGACATC	0.418																																						ENST00000366574.2																			0				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						c.(4912-4914)tCt>tTt		ryanodine receptor 2 (cardiac)							48	45	46					1																	237777341		1866	4110	5976	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.chr1:237777341C>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.4913C>T	1.37:g.237777341C>T	ENSP00000355533:p.Ser1638Phe					RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	p.S1638F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5230	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1638			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4913C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953784	0.53293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.14;-4.17	5.56	5.56	0.83823	.	0.092047	0.44285	D	0.000463	D	0.92606	0.7651	L	0.32530	0.975	0.80722	D	1	P	0.37864	0.61	B	0.31812	0.136	D	0.93184	0.6577	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8586:0.1414:0.0	.	1638	Q92736	RYR2_HUMAN	F	1638;1636;1622	ENSP00000355533:S1638F;ENSP00000353174:S1636F;ENSP00000443798:S1622F	ENSP00000353174:S1636F	S	+	2	0	RYR2	235843964	0.980000	0.34600	0.993000	0.49108	0.973000	0.67179	2.512000	0.45485	2.613000	0.88420	0.655000	0.94253	TCT		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	164	0	0	0	1	0	28	164					T	237777341	C	T	237777341	3	4	79	1	0	0	0	0	1	0	0	0	13819	913	32	2	5059	2	RYR2	1	237777341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23235	237777341	11473280	1999	12316											
RYR2	6262	broad.mit.edu	37	chr1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaacgaagtcatgcaagCcttaaacatgtcagctgcac	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1950	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)			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)			GTCATGCAAGCCTTAAACATG	0.428																																						ENST00000366574.2																			0				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						c.(5848-5850)gCc>gTc		ryanodine receptor 2 (cardiac)							103	97	99					1																	237780719		2013	4200	6213	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.chr1:237780719C>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.5849C>T	1.37:g.237780719C>T	ENSP00000355533:p.Ala1950Val					RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V	p.A1950V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	6166	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1950			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5849C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306871	0.95629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.85539	0.5720	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.86757	0.1964	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1950	Q92736	RYR2_HUMAN	V	1950;1948;1934	ENSP00000355533:A1950V;ENSP00000353174:A1948V;ENSP00000443798:A1934V	ENSP00000353174:A1948V	A	+	2	0	RYR2	235847342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		57	247	0	0	0	1	0	57	247					T	237780719	C	T	237780719	3	4	79	1	0	0	0	0	1	0	0	0	13819	739	26	2	5999	2	RYR2	1	237780719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3378	237780719	11469902	2000	12317											
RYR2	6262	broad.mit.edu	37	chr1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaagatggtggccaaCtgttgccgttttctctgtta	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2195	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)			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)			TGGTGGCCAACTGTTGCCGTT	0.393																																						ENST00000366574.2																			0				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						c.(6583-6585)aaC>aaA		ryanodine receptor 2 (cardiac)							251	243	246					1																	237796907		1880	4101	5981	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.chr1:237796907C>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.6585C>A	1.37:g.237796907C>A	ENSP00000355533:p.Asn2195Lys					RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K	p.N2195K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6902	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2195			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6585C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097651	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95137	-3.62;-3.62;-3.62	4.9	3.99	0.46301	Intracellular calcium-release channel (1);	0.074616	0.49916	D	0.000136	D	0.91153	0.7214	N	0.08118	0	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.89626	0.3852	10	0.41790	T	0.15	-19.2027	8.245	0.31682	0.0:0.7581:0.0:0.2419	.	2195	Q92736	RYR2_HUMAN	K	2195;2193;2179	ENSP00000355533:N2195K;ENSP00000353174:N2193K;ENSP00000443798:N2179K	ENSP00000353174:N2193K	N	+	3	2	RYR2	235863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	1.180000	0.42898	0.563000	0.77884	AAC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		183	654	1	0	6.86035e-81	1	8.77565e-81	183	654					A	237796907	C	A	237796907	3	1	79	1	0	0	0	0	1	0	0	0	13819	564	20	3	6755	3	RYR2	1	237796907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16188	237796907	11453714	2001	12318											
RYR2	6262	broad.mit.edu	37	chr1	237801716	237801716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctggtgtctaagggCtatccagacattgggtggaa	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000360064.6_Silent_p.G2282G|RYR2_ENST00000542537.1_Silent_p.G2268G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	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)			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)			TGTCTAAGGGCTATCCAGACA	0.433																																						ENST00000366574.2																			0				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						c.(6850-6852)ggC>ggT		ryanodine receptor 2 (cardiac)							279	273	275					1																	237801716		1918	4137	6055	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.chr1:237801716C>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.6852C>T	1.37:g.237801716C>T						RYR2_ENST00000360064.6_Silent_p.G2282G|RYR2_ENST00000542537.1_Silent_p.G2268G	p.G2284G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7169	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2284			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6852C>T	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		142	697	0	0	0	1	0	142	697					T	237801716	C	T	237801716	2	4	79	1	0	0	0	0	0	0	0	1	13819	784	28	2		2	RYR2	1	237801716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4809	237801716	11448905	2002	12319											
RYR2	6262	broad.mit.edu	37	chr1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagagaagacggtagaaaGagtattggatatagcaaatg	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3550					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)			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)			ACGGTAGAAAGAGTATTGGAT	0.383																																						ENST00000366574.2																			0				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						c.(10648-10650)aGa>aTa		ryanodine receptor 2 (cardiac)							150	142	145					1																	237886522		1867	4086	5953	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.chr1:237886522G>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.10649G>T	1.37:g.237886522G>T	ENSP00000355533:p.Arg3550Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I	p.R3550I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10966	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3550					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10649G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916312	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.23	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	D	0.97328	0.9126	M	0.77406	2.37	0.80722	D	1	P	0.49696	0.927	P	0.46758	0.526	D	0.97220	0.9877	10	0.52906	T	0.07	-17.554	20.275	0.98485	0.0:0.0:1.0:0.0	.	3550	Q92736	RYR2_HUMAN	I	3550;3548;3534;505	ENSP00000355533:R3550I;ENSP00000353174:R3548I;ENSP00000443798:R3534I	ENSP00000353174:R3548I	R	+	2	0	RYR2	235953145	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	9.539000	0.98076	2.800000	0.96347	0.455000	0.32223	AGA		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		112	337	1	0	4.05343e-56	1	5.07097e-56	112	337					T	237886522	G	T	237886522	3	4	79	1	0	0	0	0	1	0	0	0	13819	942	33	3	10943	3	RYR2	1	237886522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84806	237886522	11364099	2003	12320											
RYR2	6262	broad.mit.edu	37	chr1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaacccacactttacaGgagcacaacttggctaatta	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4911					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)			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)			ACACTTTACAGGAGCACAACT	0.458																																						ENST00000366574.2																			0				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						c.(14731-14733)caG>caT		ryanodine receptor 2 (cardiac)							181	170	173					1																	237993907		1967	4164	6131	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.chr1:237993907G>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.14733G>T	1.37:g.237993907G>T	ENSP00000355533:p.Gln4911His					RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H	p.Q4911H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		103	15050	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4911					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14733G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870785	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.09;-4.12	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000011	D	0.93598	0.7956	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.89771	0.3954	10	0.87932	D	0	-13.8307	19.143	0.93452	0.0:0.0:1.0:0.0	.	4911	Q92736	RYR2_HUMAN	H	4911;4917;4895	ENSP00000355533:Q4911H;ENSP00000353174:Q4917H;ENSP00000443798:Q4895H	ENSP00000353174:Q4917H	Q	+	3	2	RYR2	236060530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	2.509000	0.84616	0.561000	0.74099	CAG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		144	460	1	0	1.72791e-69	1	2.19293e-69	144	460					T	237993907	G	T	237993907	3	4	79	1	0	0	0	0	1	0	0	0	13819	991	35	3	15143	3	RYR2	1	237993907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107385	237993907	11256714	2004	12321											
ZP4	57829	broad.mit.edu	37	chr1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatcacagggttacacGcactgtcattcctaagggcc	9	13	2	0	rs140243550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	222	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.A222V(1)|p.A222G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTACACGCACTGTCATT	0.517																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			2	Substitution - Missense(2)	p.A222V(1)|p.A222G(1)	ovary(1)|endometrium(1)	breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(664-666)gCg>gTg		zona pellucida glycoprotein 4							172	160	164					1																	238050750		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050750G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.665C>T	1.37:g.238050750G>A	ENSP00000355529:p.Ala222Val					RP11-193H5.1_ENST00000450451.1_RNA	p.A222V	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	823	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	222			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.665C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	3.074	-0.190522	0.06299	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.93	-8.3	0.01005	Zona pellucida sperm-binding protein (3);	1.364050	0.04810	N	0.435104	T	0.61837	0.2379	N	0.16368	0.405	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.48854	-0.8998	10	0.31617	T	0.26	-0.9556	0.9693	0.01412	0.2043:0.2773:0.3177:0.2008	.	222	Q12836	ZP4_HUMAN	V	222	ENSP00000355529:A222V	ENSP00000355529:A222V	A	-	2	0	ZP4	236117373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.928000	0.01560	-1.824000	0.01209	-2.892000	0.00095	GCG		0.517	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			130	367	0	0	0	1	0	130	367					A	238050750	G	A	238050750	3	1	79	1	0	0	0	0	1	0	0	0	18271	1087	38	1	989	1	ZP4	1	238050750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56843	238050750	11199871	2005	12322											
ZP4	57829	broad.mit.edu	37	chr1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacacagcaaaacgcaccGcagcagccacataatgctac	6	15	0	0	rs371052672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	5					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R5W(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACGCACCGCAGCAGCCAC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			1	Substitution - Missense(1)	p.R5W(1)	large_intestine(1)	breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(13-15)Cgg>Tgg		zona pellucida glycoprotein 4		G	TRP/ARG	0,4406		0,0,2203	38	38	38		13	-2.1	0	1		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	5/541	238053923	1,13005	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053923G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.13C>T	1.37:g.238053923G>A	ENSP00000355529:p.Arg5Trp					RP11-193H5.1_ENST00000450451.1_RNA	p.R5W	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	171	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	5					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.13C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543054	0.27563	0.0	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	3.64	-2.11	0.07187	.	2.841300	0.01275	N	0.009565	T	0.53690	0.1812	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.62326	D	0.03	5.1698	4.3134	0.10981	0.4909:0.1788:0.3303:0.0	.	5	Q12836	ZP4_HUMAN	W	5	ENSP00000355529:R5W	ENSP00000355529:R5W	R	-	1	2	ZP4	236120546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.416000	0.07473	0.563000	0.77884	CGG		0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			42	196	0	0	0	1	0	42	196					A	238053923	G	A	238053923	3	1	79	1	0	0	0	0	1	0	0	0	18271	1086	38	1	1657	1	ZP4	1	238053923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3173	238053923	11196698	2006	12323											
CHRM3	1131	broad.mit.edu	37	chr1	240070910	240070910	+	Silent	SNP	C	C	T													ggcaatttctcctctccagaCggtaccaccgatgaccctct					rs149077005	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070910C>T	ENST00000255380.4	+	5	938	c.159C>T	c.(157-159)gaC>gaT	p.D53D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	53					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCTCCAGACGGTACCACCG	0.572													C|||	4	0.000798722	0.003	0.0	5008	,	,		18693	0.0		0.0	False		,,,				2504	0.0					ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(157-159)gaC>gaT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	C		11,4395	17.9+/-39.9	0,11,2192	96	91	93		159	-3	0	1	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	CHRM3	NM_000740.2		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		53/591	240070910	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070910C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.159C>T	1.37:g.240070910C>T							p.D53D	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	938	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	53					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.159C>T	CCDS1616.1																																																																																				0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		107	404	0	0	0	1	0	107	404					T	240070910	C	T	240070910	2	4	79	1	0	0	0	0	0	0	0	1	3387	535	19	1		1	CHRM3	1	240070910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016987	240070910	9179711	2007	12324	79	2									
CHRM3	1131	broad.mit.edu	37	chr1	240070919	240070919	+	Silent	SNP	C	C	T													tcctctccagacggtaccacCgatgaccctctgggaggtca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	56					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.T56T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACGGTACCACCGATGACCCTC	0.572																																						ENST00000255380.4																			1	Substitution - coding silent(1)	p.T56T(1)	endometrium(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(166-168)acC>acT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						106	99	101					1																	240070919		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070919C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.168C>T	1.37:g.240070919C>T							p.T56T	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	947	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	56					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.168C>T	CCDS1616.1																																																																																				0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		117	375	0	0	0	1	0	117	375					T	240070919	C	T	240070919	2	4	79	1	0	0	0	0	0	0	0	1	3387	639	23	1		1	CHRM3	1	240070919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	240070919	9179702	2008	12325	79	2									
CHRM3	1131	broad.mit.edu	37	chr1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcgcaagcagcagtAccagcagagacagtcggtca	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGCAGCAGTACCAGCAGAGA	0.493																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1717-1719)tAc>tGc		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						48	48	48					1																	240072469		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072469A>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1718A>G	1.37:g.240072469A>G	ENSP00000255380:p.Tyr573Cys						p.Y573C	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2497	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	573					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1718A>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226261	0.58668	.	.	ENSG00000133019	ENST00000255380	T	0.37235	1.21	5.58	5.58	0.84498	.	0.202097	0.43919	D	0.000502	T	0.52661	0.1748	M	0.62723	1.935	0.58432	D	0.999991	D	0.69078	0.997	P	0.56865	0.808	T	0.56884	-0.7905	10	0.87932	D	0	-18.9527	15.7553	0.78018	1.0:0.0:0.0:0.0	.	573	P20309	ACM3_HUMAN	C	573	ENSP00000255380:Y573C	ENSP00000255380:Y573C	Y	+	2	0	CHRM3	238139092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.127000	0.65507	0.533000	0.62120	TAC		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		50	279	0	0	0	1	0	50	279					G	240072469	A	G	240072469	3	3	79	1	0	0	0	0	1	0	0	0	3387	391	14	4	1720	4	CHRM3	1	240072469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1550	240072469	9178152	2009	12326											
FMN2	56776	broad.mit.edu	37	chr1	240255963	240255963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggacacggacatctataGcttccattcggctacggagc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240255963G>A	ENST00000319653.9	+	1	784	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	185					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACATCTATAGCTTCCATTCG	0.627																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(553-555)aGc>aAc		formin 2							72	71	72					1																	240255963		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255963G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.554G>A	1.37:g.240255963G>A	ENSP00000318884:p.Ser185Asn						p.S185N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	784	+	Ovarian(103;0.127)	all_cancers(173;0.013)	185					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.554G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527126	0.44969	.	.	ENSG00000155816	ENST00000319653	T	0.61274	0.12	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000001	T	0.72637	0.3485	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77542	-0.2549	10	0.87932	D	0	.	15.9248	0.79609	0.0:0.0:1.0:0.0	.	185	Q9NZ56	FMN2_HUMAN	N	185	ENSP00000318884:S185N	ENSP00000318884:S185N	S	+	2	0	FMN2	238322586	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.614000	0.90917	2.046000	0.60703	0.313000	0.20887	AGC		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	321	0	0	0	1	0	7	321					A	240255963	G	A	240255963	3	1	79	1	0	0	0	0	1	0	0	0	5975	971	34	2	556	2	FMN2	1	240255963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183494	240255963	8994658	2010	12327											
FMN2	56776	broad.mit.edu	37	chr1	240256573	240256573	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggaggaggcgcaaggAcctgacgcccccgcggccgc	17	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	ENST00000319653.9	+	1	1394	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	388					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCAAGGACCTGACGCCC	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1162-1164)ggA>ggC		formin 2							16	21	19					1																	240256573		2191	4284	6475	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256573A>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1164A>C	1.37:g.240256573A>C							p.G388G	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1394	+	Ovarian(103;0.127)	all_cancers(173;0.013)	388					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1164A>C	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		32	144	0	0	0	1	0	32	144					C	240256573	A	C	240256573	2	2	79	1	0	0	0	0	0	0	0	1	5975	262	10	4		4	FMN2	1	240256573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	610	240256573	8994048	2011	12328											
FMN2	56776	broad.mit.edu	37	chr1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccctaatcagagccccaGgatcaagaggcggccggaac	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	442					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1324-1326)aGg>aAg		formin 2							47	54	52					1																	240256734		2200	4295	6495	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256734G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1325G>A	1.37:g.240256734G>A	ENSP00000318884:p.Arg442Lys						p.R442K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1555	+	Ovarian(103;0.127)	all_cancers(173;0.013)	442					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1325G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101876	0.37048	.	.	ENSG00000155816	ENST00000319653	T	0.80994	-1.44	4.51	3.6	0.41247	.	0.301205	0.27981	N	0.017078	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.54516	-0.8282	10	0.25106	T	0.35	.	4.2569	0.10721	0.1893:0.0:0.5758:0.2349	.	442	Q9NZ56	FMN2_HUMAN	K	442	ENSP00000318884:R442K	ENSP00000318884:R442K	R	+	2	0	FMN2	238323357	0.974000	0.33945	1.000000	0.80357	0.976000	0.68499	1.751000	0.38339	1.105000	0.41606	0.563000	0.77884	AGG		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		122	400	0	0	0	1	0	122	400					A	240256734	G	A	240256734	3	1	79	1	0	0	0	0	1	0	0	0	5975	1000	35	2	1327	2	FMN2	1	240256734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	240256734	8993887	2012	12329											
FMN2	56776	broad.mit.edu	37	chr1	240370368	240370368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcccccacggaagagggCggggtgctgacactgcctcc	13	15	0	2	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	752					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.G895G(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2254-2256)ggC>ggT		formin 2		T		0,4406		0,0,2203	44	42	43		2256	-7.8	0	1	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FMN2	NM_020066.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		752/1723	240370368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370368C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2256C>T	1.37:g.240370368C>T							p.G752G	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2486	+	Ovarian(103;0.127)	all_cancers(173;0.013)	752					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2256C>T	CCDS31069.2																																																																																				0.547	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		35	190	0	0	0	1	0	35	190					T	240370368	C	T	240370368	2	4	79	1	0	0	0	0	0	0	0	1	5975	755	27	1		1	FMN2	1	240370368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113634	240370368	8880253	2013	12330											
GREM2	64388	broad.mit.edu	37	chr1	240656545	240656545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctcaccgtctgccgcagCggctgcgtcttgcaccagtc	11	17	3	0	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	77	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(229-231)ccG>ccA		gremlin 2, DAN family BMP antagonist		C		1,4405	2.1+/-5.4	0,1,2202	49	50	50		231	-7.2	1	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	GREM2	NM_022469.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		77/169	240656545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656545C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.231G>A	1.37:g.240656545C>T							p.P77P	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	497	-		all_cancers(173;0.0196)	77			CTCK.		Q86UD9	Silent	SNP	ENST00000318160.4	37	c.231G>A	CCDS31070.1																																																																																				0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		98	366	0	0	0	1	0	98	366					T	240656545	C	T	240656545	2	4	79	1	0	0	0	0	0	0	0	1	6792	755	27	1		1	GREM2	1	240656545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286177	240656545	8594076	2014	12331											
RGS7	6000	broad.mit.edu	37	chr1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtggttttgtcataActcttggaatccaagttaat	8	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000407727.1	-	14	1208	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366565.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	403	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)			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)			TTTTGTCATAACTCTTGGAAT	0.478																																						ENST00000366565.1																			0				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						c.(1207-1209)agT>agG		regulator of G-protein signaling 7							200	175	184					1																	240969500		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240969500A>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1209T>G	1.37:g.240969500A>C	ENSP00000384428:p.Ser403Arg					RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000407727.1_Missense_Mutation_p.S403R	p.S403R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		15	1590	-		all_cancers(173;0.0131)	403			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1209T>G		.	.	.	.	.	.	.	.	.	.	A	21.2	4.119829	0.77323	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.95	2.34	0.29019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.036320	0.85682	N	0.000000	T	0.10981	0.0268	M	0.87900	2.915	0.54753	D	0.999984	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;0.998;1.0;0.993;1.0	T	0.00389	-1.1770	10	0.87932	D	0	.	4.96	0.14061	0.5959:0.1587:0.2455:0.0	.	319;377;350;403;403;403;403	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	377;403;403;403;234;350;319;403;403;350	ENSP00000331485:S377R;ENSP00000355523:S403R;ENSP00000355522:S403R;ENSP00000355521:S403R;ENSP00000404399:S234R;ENSP00000341242:S350R;ENSP00000390138:S319R;ENSP00000355520:S403R;ENSP00000384428:S403R;ENSP00000385508:S350R	ENSP00000331485:S377R	S	-	3	2	RGS7	239036123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.096000	0.41738	0.524000	0.28502	0.528000	0.53228	AGT		0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		125	386	0	0	0	1	0	125	386					C	240969500	A	C	240969500	3	2	79	1	0	0	0	0	1	0	0	0	13360	40	2	4	270	4	RGS7	1	240969500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312955	240969500	8281121	2015	12332											
RGS7	6000	broad.mit.edu	37	chr1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcacgtcccagaacgCtctctcttggctgtcaagga	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000407727.1	-	8	582	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366565.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	195					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)			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)			TCCCAGAACGCTCTCTCTTGG	0.478																																						ENST00000366565.1																			0				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						c.(583-585)Gcg>Tcg		regulator of G-protein signaling 7							152	117	129					1																	241031913		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241031913C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.583G>T	1.37:g.241031913C>A	ENSP00000384428:p.Ala195Ser					RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000407727.1_Missense_Mutation_p.A195S	p.A195S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		9	964	-		all_cancers(173;0.0131)	195					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.583G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.276787	0.95459	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.26;0.32;0.31;-0.03;0.56;0.49;0.32;0.26;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.88775	2.98	0.80722	D	1	D;P;P;D;P;D;D	0.71674	0.968;0.919;0.951;0.998;0.951;0.996;0.969	P;P;P;D;P;D;P	0.70016	0.718;0.507;0.769;0.967;0.769;0.926;0.818	D	0.85729	0.1330	10	0.87932	D	0	-10.8088	18.6358	0.91378	0.0:1.0:0.0:0.0	.	111;169;142;195;195;195;195	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	169;195;195;195;26;142;111;195;195;142	ENSP00000331485:A169S;ENSP00000355523:A195S;ENSP00000355522:A195S;ENSP00000355521:A195S;ENSP00000404399:A26S;ENSP00000341242:A142S;ENSP00000390138:A111S;ENSP00000355520:A195S;ENSP00000384428:A195S;ENSP00000385508:A142S	ENSP00000331485:A169S	A	-	1	0	RGS7	239098536	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GCG		0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		69	395	1	0	2.6465e-34	1	3.14731e-34	69	395					A	241031913	C	A	241031913	3	1	79	1	0	0	0	0	1	0	0	0	13360	797	28	3	920	3	RGS7	1	241031913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62413	241031913	8218708	2016	12333											
FH	2271	broad.mit.edu	37	chr1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggatcaagaccataatccTggtttacttcagcggccgct	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	108					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCATAATCCTGGTTTACTTC	0.373			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(322-324)cAg>cGg		fumarate hydratase							146	144	145					1																	241676958		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241676958T>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.323A>G	1.37:g.241676958T>C	ENSP00000355518:p.Gln108Arg						p.Q108R	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	3	361	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	108					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.323A>G	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022955	0.54683	.	.	ENSG00000091483	ENST00000366560	D	0.99304	-5.72	5.85	5.85	0.93711	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.171783	0.52532	D	0.000071	D	0.95887	0.8661	N	0.05078	-0.115	0.51767	D	0.999934	B	0.02656	0.0	B	0.08055	0.003	D	0.94601	0.7796	10	0.16420	T	0.52	-25.9253	14.1942	0.65659	0.0:0.0:0.0:1.0	.	108	P07954	FUMH_HUMAN	R	108	ENSP00000355518:Q108R	ENSP00000355518:Q108R	Q	-	2	0	FH	239743581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.234000	0.73211	0.533000	0.62120	CAG		0.373	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		158	452	0	0	0	1	0	158	452					C	241676958	T	C	241676958	3	2	79	1	0	0	0	0	1	0	0	0	5900	1580	55	4	1241	4	FH	1	241676958	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	645045	241676958	7573663	2017	12334											
KMO	8564	broad.mit.edu	37	chr1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttctcacagaacaaAtcattcacatgtactttgtt	3	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366558.3_Missense_Mutation_p.K231N|KMO_ENST00000366557.4_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CACAGAACAAATCATTCACAT	0.438																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(691-693)aaA>aaC		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							146	140	142					1																	241729796		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241729796A>C	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.693A>C	1.37:g.241729796A>C	ENSP00000355517:p.Lys231Asn					KMO_ENST00000366557.4_Missense_Mutation_p.K231N|KMO_ENST00000366558.3_Missense_Mutation_p.K231N	p.K231N	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		9	1004	+	Ovarian(103;0.103)|all_lung(81;0.23)		231						Missense_Mutation	SNP	ENST00000366559.4	37	c.693A>C	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945479	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.92	3.65	0.41850	Monooxygenase, FAD-binding (1);	0.084078	0.85682	D	0.000000	T	0.57007	0.2024	L	0.60067	1.865	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.988;0.791	P;P;B	0.62491	0.903;0.903;0.319	T	0.55964	-0.8057	10	0.48119	T	0.1	.	8.0608	0.30631	0.8372:0.0:0.1628:0.0	.	231;231;231	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	231	ENSP00000355517:K231N;ENSP00000355516:K231N;ENSP00000355515:K231N	ENSP00000355515:K231N	K	+	3	2	KMO	239796419	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.617000	0.54181	1.083000	0.41159	0.528000	0.53228	AAA		0.438	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		120	364	0	0	0	1	0	120	364					C	241729796	A	C	241729796	3	2	79	1	0	0	0	0	1	0	0	0	8454	98	4	4	727	4	KMO	1	241729796	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52838	241729796	7520825	2018	12335											
OPN3	23596	broad.mit.edu	37	chr1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgcatttcacttccaGctgctggtaggtctttagca	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	341					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(1021-1023)gCt>gAt		opsin 3							123	123	123					1																	241757917		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241757917G>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.1022C>A	1.37:g.241757917G>T	ENSP00000355512:p.Ala341Asp					KMO_ENST00000366557.4_3'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D	p.A341D	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		4	1128	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	341					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.1022C>A	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228311	0.22542	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.69561	-0.41;-0.0	4.11	-2.95	0.05564	.	0.979536	0.08373	N	0.955721	T	0.44891	0.1315	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.30208	-0.9986	10	0.49607	T	0.09	.	1.9055	0.03276	0.3059:0.1376:0.4074:0.1491	.	341	Q9H1Y3	OPN3_HUMAN	D	341;262	ENSP00000355512:A341D;ENSP00000328018:A262D	ENSP00000328018:A262D	A	-	2	0	OPN3	239824540	0.004000	0.15560	0.000000	0.03702	0.713000	0.41058	0.437000	0.21543	-0.649000	0.05430	0.650000	0.86243	GCT		0.463	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		141	588	1	0	1.85997e-60	1	2.33967e-60	141	588					T	241757917	G	T	241757917	3	4	79	1	0	0	0	0	1	0	0	0	10923	971	34	3	190	3	OPN3	1	241757917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28121	241757917	7492704	2019	12336											
CHML	1122	broad.mit.edu	37	chr1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcattgtactttatgaCgaagacaatagattccacca	6	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	403					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1207-1209)cGt>cAt		choroideremia-like (Rab escort protein 2)							68	73	71					1																	241797861		2201	4298	6499	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797861C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1208G>A	1.37:g.241797861C>T	ENSP00000355511:p.Arg403His					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.R403H	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1371	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	403					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1208G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815051	0.32053	.	.	ENSG00000203668	ENST00000366553	T	0.59772	0.24	4.4	3.45	0.39498	.	0.286793	0.38492	U	0.001671	T	0.41949	0.1181	.	.	.	0.42068	D	0.991193	B	0.28178	0.202	B	0.22880	0.042	T	0.36407	-0.9749	9	0.41790	T	0.15	-4.2563	7.1729	0.25728	0.0:0.8721:0.0:0.1279	.	403	P26374	RAE2_HUMAN	H	403	ENSP00000355511:R403H	ENSP00000355511:R403H	R	-	2	0	CHML	239864484	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	1.321000	0.33678	1.377000	0.46286	0.655000	0.94253	CGT		0.373	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		62	323	0	0	0	1	0	62	323					T	241797861	C	T	241797861	3	4	79	1	0	0	0	0	1	0	0	0	3360	536	19	1	766	1	CHML	1	241797861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39944	241797861	7452760	2020	12337											
CHML	1122	broad.mit.edu	37	chr1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtttttagttgcgttaagaCcatctattgtagtgcaagat	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	356					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1066-1068)gGt>gTt		choroideremia-like (Rab escort protein 2)							127	126	127					1																	241798002		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798002C>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1067G>T	1.37:g.241798002C>A	ENSP00000355511:p.Gly356Val					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.G356V	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1230	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	356					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1067G>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104997	0.56291	.	.	ENSG00000203668	ENST00000366553	D	0.86366	-2.11	4.96	3.99	0.46301	.	0.107759	0.64402	U	0.000006	D	0.92564	0.7638	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	9	0.62326	D	0.03	-9.7362	13.364	0.60674	0.0:0.8401:0.1598:0.0	.	356	P26374	RAE2_HUMAN	V	356	ENSP00000355511:G356V	ENSP00000355511:G356V	G	-	2	0	CHML	239864625	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.935000	0.56560	2.752000	0.94435	0.655000	0.94253	GGT		0.398	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		141	374	1	0	1.12488e-73	1	1.43224e-73	141	374					A	241798002	C	A	241798002	3	1	79	1	0	0	0	0	1	0	0	0	3360	507	18	3	907	3	CHML	1	241798002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	241798002	7452619	2021	12338											
CHML	1122	broad.mit.edu	37	chr1	241798700	241798700	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattagacacccccaaagaAggatttttctgcagagcacc	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	123					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCCCCAAAGAAGGATTTTTCT	0.423																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(367-369)ccT>ccG		choroideremia-like (Rab escort protein 2)							145	150	148					1																	241798700		2203	4298	6501	SO:0001819	synonymous_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798700A>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.369T>G	1.37:g.241798700A>C						OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.P123P	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	532	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	123					B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	c.369T>G	CCDS31073.1																																																																																				0.423	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		34	1366	0	0	0	1	0	34	1366					C	241798700	A	C	241798700	2	2	79	1	0	0	0	0	0	0	0	1	3360	59	3	4		4	CHML	1	241798700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	698	241798700	7451921	2022	12339											
WDR64	128025	broad.mit.edu	37	chr1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccccactagtctaagatTtcttccactgattggcgtag	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1025										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTCTAAGATTTCTTCCACTG	0.408																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3073-3075)tTt>tGt		WD repeat domain 64							102	90	94					1																	241959584		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959584T>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3074T>G	1.37:g.241959584T>G	ENSP00000355510:p.Phe1025Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	p.F1025C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		26	3281	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1025					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3074T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.560402|1.560402	0.27827|0.27827	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|T	0.46819|0.34472	1.1;0.86;0.87|1.36	5.22|5.22	2.69|2.69	0.31865|0.31865	.|.	0.684160|0.684160	0.13676|0.13676	N|N	0.370531|0.370531	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.57536|0.57536	1.79|1.79	0.21325|0.21325	N|N	0.99972|0.99972	D;P|.	0.76494|.	0.999;0.947|.	P;P|.	0.59703|.	0.862;0.541|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.59425|0.48119	D|T	0.04|0.1	-7.4809|-7.4809	7.511|7.511	0.27573|0.27573	0.3467:0.0:0.0:0.6533|0.3467:0.0:0.0:0.6533	.|.	1025;578|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	C|V	1025;858;629|504	ENSP00000355510:F1025C;ENSP00000402446:F858C;ENSP00000406656:F629C|ENSP00000406342:F504V	ENSP00000355510:F1025C|ENSP00000406342:F504V	F|F	+|+	2|1	0|0	WDR64|WDR64	240026207|240026207	0.996000|0.996000	0.38824|0.38824	0.599000|0.599000	0.28851|0.28851	0.041000|0.041000	0.13682|0.13682	0.723000|0.723000	0.25939|0.25939	0.897000|0.897000	0.36392|0.36392	-0.490000|-0.490000	0.04691|0.04691	TTT|TTC		0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		92	227	0	0	0	1	0	92	227					G	241959584	T	G	241959584	3	3	79	1	0	0	0	0	1	0	0	0	17369	1841	64	4	3176	4	WDR64	1	241959584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160884	241959584	7291037	2023	12340											
WDR64	128025	broad.mit.edu	37	chr1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaggtcatgttcaacGtgaaaaagtaagttagtact	12	4	2	1	rs185903348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.0		0.001	False		,,,				2504	0.0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3154-3156)cGt>cAt		WD repeat domain 64							82	79	80					1																	241959665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959665G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3155G>A	1.37:g.241959665G>A	ENSP00000355510:p.Arg1052His					WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	p.R1052H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		26	3362	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1052					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3155G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		48	213	0	0	0	1	0	48	213					A	241959665	G	A	241959665	3	1	79	1	0	0	0	0	1	0	0	0	17369	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	241959665	7290956	2024	12341											
EXO1	9156	broad.mit.edu	37	chr1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgttgatgattccataGctcttcaaatagcacttgga	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	322	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(964-966)Gct>Act	Editing and processing nucleases	exonuclease 1							76	77	77					1																	242024727		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242024727G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.964G>A	1.37:g.242024727G>A	ENSP00000355506:p.Ala322Thr					EXO1_ENST00000348581.5_Missense_Mutation_p.A322T|EXO1_ENST00000518483.1_Missense_Mutation_p.A322T	p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		10	1557	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	322			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.964G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051702	0.93793	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36520	1.25;1.25;1.25	4.95	4.95	0.65309	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.247249	0.39083	N	0.001461	T	0.64692	0.2621	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.966;0.989;0.952	T	0.70655	-0.4812	10	0.72032	D	0.01	-4.9476	18.1442	0.89649	0.0:0.0:1.0:0.0	.	322;322;322	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	322	ENSP00000355506:A322T;ENSP00000311873:A322T;ENSP00000430251:A322T	ENSP00000311873:A322T	A	+	1	0	EXO1	240091350	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.099000	0.94207	2.463000	0.83235	0.655000	0.94253	GCT		0.308	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		25	148	0	0	0	1	0	25	148					A	242024727	G	A	242024727	3	1	79	1	0	0	0	0	1	0	0	0	5318	971	34	2	990	2	EXO1	1	242024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65062	242024727	7225894	2025	12342											
EXO1	9156	broad.mit.edu	37	chr1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccattcaagaagtcataGttgggatgacaaaacatgtc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	355	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1063-1065)aGt>aAt	Editing and processing nucleases	exonuclease 1							109	103	105					1																	242030154		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242030154G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1064G>A	1.37:g.242030154G>A	ENSP00000355506:p.Ser355Asn					EXO1_ENST00000348581.5_Missense_Mutation_p.S355N|EXO1_ENST00000518483.1_Missense_Mutation_p.S355N	p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		11	1657	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	355			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1064G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829897	0.16749	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.38401	1.2;1.2;1.14	5.75	4.83	0.62350	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.372294	0.35525	N	0.003144	T	0.38852	0.1056	M	0.73598	2.24	0.40987	D	0.984825	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.16722	0.007;0.016;0.006	T	0.25710	-1.0124	10	0.24483	T	0.36	0.0	12.9676	0.58494	0.0761:0.0:0.9239:0.0	.	355;355;355	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	355	ENSP00000355506:S355N;ENSP00000311873:S355N;ENSP00000430251:S355N	ENSP00000311873:S355N	S	+	2	0	EXO1	240096777	1.000000	0.71417	0.979000	0.43373	0.370000	0.29829	3.600000	0.54052	1.429000	0.47314	0.655000	0.94253	AGT		0.368	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		113	339	0	0	0	1	0	113	339					A	242030154	G	A	242030154	3	1	79	1	0	0	0	0	1	0	0	0	5318	1029	36	2	1094	2	EXO1	1	242030154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5427	242030154	7220467	2026	12343											
EXO1	9156	broad.mit.edu	37	chr1	242052841	242052841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaactaactccagaagCggaagaggatatatttaaca	7	9	0	2	rs145975455	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242052841C>T	ENST00000366548.3	+	16	3073	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	827	Interaction with MLH1.|Interaction with MSH2.		A -> V. {ECO:0000269|PubMed:12517792}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTCCAGAAGCGGAAGAGGAT	0.403								Editing and processing nucleases					C|||	2	0.000399361	0.0	0.0029	5008	,	,		17194	0.0		0.0	False		,,,				2504	0.0					ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(2479-2481)gCg>gTg	Editing and processing nucleases	exonuclease 1		C	,VAL/ALA,VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	94	96	95		,2480,2480	4.4	0.1	1	dbSNP_134	95	5,8595	4.3+/-15.6	0,5,4295	yes	utr-3,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	,64,64	0,11,6492	TT,TC,CC		0.0581,0.1362,0.0846	,benign,benign	,827/847,827/847	242052841	11,12995	2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242052841C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2480C>T	1.37:g.242052841C>T	ENSP00000355506:p.Ala827Val					EXO1_ENST00000348581.5_Missense_Mutation_p.A827V|EXO1_ENST00000518483.1_3'UTR	p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		16	3073	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	827		A -> V.	Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2480C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801986	0.50315	0.001362	5.81E-4	ENSG00000174371	ENST00000366548;ENST00000348581	T;T	0.60424	0.19;0.19	5.32	4.4	0.53042	.	0.631895	0.15778	N	0.245083	T	0.47985	0.1475	L	0.47716	1.5	0.09310	N	1	B;B	0.31837	0.342;0.342	B;B	0.22753	0.041;0.028	T	0.41197	-0.9522	10	0.49607	T	0.09	-9.9203	11.4966	0.50413	0.0:0.9136:0.0:0.0864	.	826;827	A8K5H6;Q9UQ84	.;EXO1_HUMAN	V	827	ENSP00000355506:A827V;ENSP00000311873:A827V	ENSP00000311873:A827V	A	+	2	0	EXO1	240119464	0.976000	0.34144	0.064000	0.19789	0.957000	0.61999	2.821000	0.48065	1.204000	0.43247	0.655000	0.94253	GCG		0.403	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		15	600	0	0	0	1	0	15	600					T	242052841	C	T	242052841	3	4	79	1	0	0	0	0	1	0	0	0	5318	768	27	1	2530	1	EXO1	1	242052841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22687	242052841	7197780	2027	12344											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaccagcaagtaaaaggCttccgtggctctcaggacca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	84					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(250-252)Gcc>Acc		microtubule-associated protein 1 light chain 3 gamma							150	132	139					1																	242159659		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159659C>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.250G>A	1.37:g.242159659C>T	ENSP00000349785:p.Ala84Thr						p.A84T	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	314	-			84					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.250G>A	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928828	0.73327	.	.	ENSG00000197769	ENST00000357246	T	0.59502	0.26	4.18	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.80982	2.52	0.53688	D	0.999971	B	0.30727	0.292	P	0.51516	0.672	T	0.77000	-0.2750	10	0.87932	D	0	.	13.1202	0.59321	0.1611:0.8389:0.0:0.0	.	84	Q9BXW4	MLP3C_HUMAN	T	84	ENSP00000349785:A84T	ENSP00000349785:A84T	A	-	1	0	MAP1LC3C	240226282	1.000000	0.71417	0.948000	0.38648	0.443000	0.32047	5.100000	0.64560	0.956000	0.37904	0.643000	0.83706	GCC		0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		95	341	0	0	0	1	0	95	341					T	242159659	C	T	242159659	3	4	79	1	0	0	0	0	1	0	0	0	9274	797	28	2	197	2	MAP1LC3C	1	242159659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106818	242159659	7090962	2028	12345											
PLD5	200150	broad.mit.edu	37	chr1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgataacaaggcccgtgccaGcattctgagtgaaatcattc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000442594.2_Missense_Mutation_p.A373D|PLD5_ENST00000427495.1_Missense_Mutation_p.A403D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	465						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCCGTGCCAGCATTCTGAGT	0.408																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1117-1119)gCt>gAt		phospholipase D family, member 5							131	125	127					1																	242253373		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253373G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1394C>A	1.37:g.242253373G>T	ENSP00000440896:p.Ala465Asp					PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000536534.1_Missense_Mutation_p.A465D	p.A373D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1627	-	Melanoma(84;0.242)		465					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1118C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481388	0.44147	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.976;0.982	T	0.61950	-0.6957	10	0.87932	D	0	-19.3676	17.7645	0.88473	0.0:0.0:1.0:0.0	.	373;465;403	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	403;373;465	ENSP00000401285:A403D;ENSP00000414188:A373D;ENSP00000440896:A465D	ENSP00000401285:A403D	A	-	2	0	PLD5	240319996	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.145000	0.89625	2.723000	0.93209	0.655000	0.94253	GCT		0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		150	553	1	0	3.62976e-74	1	4.6241e-74	150	553					T	242253373	G	T	242253373	3	4	79	1	0	0	0	0	1	0	0	0	12091	971	34	3	220	3	PLD5	1	242253373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93714	242253373	6997248	2029	12346											
PLD5	200150	broad.mit.edu	37	chr1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctttgaatcagctgttAcatcactcactagcttgatt	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000442594.2_Missense_Mutation_p.V97A|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	189						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCAGCTGTTACATCACTCAC	0.368																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(289-291)gTa>gCa		phospholipase D family, member 5							63	61	62					1																	242428680		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428680A>G	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.566T>C	1.37:g.242428680A>G	ENSP00000440896:p.Val189Ala					PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000536534.1_Missense_Mutation_p.V189A	p.V97A	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	799	-	Melanoma(84;0.242)		189					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.290T>C	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960991	0.34565	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.43294	2.64;2.64;2.64;0.95	5.55	4.41	0.53225	.	0.270757	0.30762	N	0.008930	T	0.21022	0.0506	N	0.13003	0.285	0.28108	N	0.931111	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.16100	-1.0414	10	0.06494	T	0.89	-19.09	9.713	0.40256	0.9161:0.0:0.0839:0.0	.	97;189;127	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	A	127;97;189;127	ENSP00000401285:V127A;ENSP00000414188:V97A;ENSP00000440896:V189A;ENSP00000438191:V127A	ENSP00000401285:V127A	V	-	2	0	PLD5	240495303	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.031000	0.49728	2.234000	0.73211	0.533000	0.62120	GTA		0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		29	186	0	0	0	1	0	29	186					G	242428680	A	G	242428680	3	3	79	1	0	0	0	0	1	0	0	0	12091	391	14	4	1072	4	PLD5	1	242428680	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175307	242428680	6821941	2030	12347											
CEP170	9859	broad.mit.edu	37	chr1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacccacatctgtggaaCgactttttgttttcttttcc	6	10	2	1	rs375934140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(2983-2985)cGt>cAt		centrosomal protein 170kDa		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3752		0,0,1876	94	86	89		2690,2690,2984	4.9	1	1		89	1,8197		0,1,4098	no	missense,missense,missense	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	29,29,29	0,1,5974	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	897/1487,897/1461,995/1585	243328278	1,11949	1876	4099	5975	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328278C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2984G>A	1.37:g.243328278C>T	ENSP00000355500:p.Arg995His					RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA	p.R995H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3035	-	all_neural(11;0.101)	all_cancers(173;0.003)	995			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2984G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	CEP170|CEP170	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		28	387	0	0	0	1	0	28	387					T	243328278	C	T	243328278	3	4	79	1	0	0	0	0	1	0	0	0	3259	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899598	243328278	5922343	2031	12348											
SDCCAG8	10806	broad.mit.edu	37	chr1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgccaacaagcagataAggaaagtgaagtatctccgt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	87					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAGCAGATAAGGAAAGTGAA	0.383																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(259-261)aAg>aCg		serologically defined colon cancer antigen 8							133	122	126					1																	243434319		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243434319A>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.260A>C	1.37:g.243434319A>C	ENSP00000355499:p.Lys87Thr					SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T	p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	3	378	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	87					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.260A>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199679	0.58126	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.48522	0.81;0.84	5.52	3.16	0.36331	.	0.346316	0.33161	N	0.005209	T	0.38054	0.1026	L	0.60455	1.87	0.58432	D	0.999999	B	0.20052	0.041	B	0.19946	0.027	T	0.11108	-1.0601	10	0.15499	T	0.54	-7.9406	6.9153	0.24357	0.7718:0.1498:0.0785:0.0	.	87	Q86SQ7	SDCG8_HUMAN	T	87	ENSP00000348137:K87T;ENSP00000355499:K87T	ENSP00000348137:K87T	K	+	2	0	SDCCAG8	241500942	0.805000	0.28982	0.437000	0.26809	0.822000	0.46500	1.372000	0.34261	0.443000	0.26582	0.533000	0.62120	AAG		0.383	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		84	268	0	0	0	1	0	84	268					C	243434319	A	C	243434319	3	2	79	1	0	0	0	0	1	0	0	0	14009	72	3	4	270	4	SDCCAG8	1	243434319	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106041	243434319	5816302	2032	12349											
SDCCAG8	10806	broad.mit.edu	37	chr1	243468021	243468021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttctataggagaagCtaaaacttacttatgaggaa	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000355875.4_Silent_p.L185L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAGGAGAAGCTAAAACTTAC	0.259																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(682-684)Cta>Tta		serologically defined colon cancer antigen 8							54	58	56					1																	243468021		2203	4291	6494	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243468021C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.682C>T	1.37:g.243468021C>T						SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000355875.4_Silent_p.L185L	p.L228L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	7	800	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	228			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.682C>T	CCDS31075.1																																																																																				0.259	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		36	172	0	0	0	1	0	36	172					T	243468021	C	T	243468021	2	4	79	1	0	0	0	0	0	0	0	1	14009	796	28	2		2	SDCCAG8	1	243468021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33702	243468021	5782600	2033	12350											
SDCCAG8	10806	broad.mit.edu	37	chr1	243480090	243480090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtctgcactagtttcCgtaaggagcagcttggcaga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000355875.4_Silent_p.S278S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	321	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CACTAGTTTCCGTAAGGAGCA	0.398																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(961-963)tcC>tcT		serologically defined colon cancer antigen 8							95	91	92					1																	243480090		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480090C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.963C>T	1.37:g.243480090C>T						SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000355875.4_Silent_p.S278S	p.S321S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1081	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	321			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.963C>T	CCDS31075.1																																																																																				0.398	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		51	273	0	0	0	1	0	51	273					T	243480090	C	T	243480090	2	4	79	1	0	0	0	0	0	0	0	1	14009	639	23	1		1	SDCCAG8	1	243480090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12069	243480090	5770531	2034	12351											
ZNF238	10472	broad.mit.edu	37	chr1	244218555	244218555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggggacctgtacagacaCattcgcaagttccactgtga	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244218555C>T	ENST00000358704.4	+	2	1628	c.1479C>T	c.(1477-1479)caC>caT	p.H493H		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	484					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|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)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTACAGACACATTCGCAAGT	0.577																																						ENST00000358704.4																			0											c.(1477-1479)caC>caT		zinc finger and BTB domain containing 18							80	79	79					1																	244218555		2203	4300	6503	SO:0001819	synonymous_variant	10472							g.chr1:244218555C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1479C>T	1.37:g.244218555C>T							p.H493H	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1628	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1479C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567841	0.03910	.	.	ENSG00000179456	ENST00000366538	.	.	.	5.78	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71659	-0.4526	6	0.49607	T	0.09	.	12.1166	0.53868	0.0:0.7939:0.0:0.2061	.	.	.	.	Y	482	.	ENSP00000355496:H482Y	H	+	1	0	ZNF238	242285178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.075000	0.57584	1.468000	0.48064	-0.140000	0.14226	CAT		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		39	508	0	0	0	1	0	39	508					T	244218555	C	T	244218555	2	4	79	1	0	0	0	0	0	0	0	1	17843	477	17	2		2	ZNF238	1	244218555	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	738465	244218555	5032066	2035	12352											
ADSS	159	broad.mit.edu	37	chr1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactccaactttgatttccGtaaacatgtccaaaatatcc	3	12	0	1	rs147946123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTTGATTTCCGTAAACATGTC	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0					ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1108-1110)aCg>aTg		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						91	83	86					1																	244579342		2203	4299	6502	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244579342G>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1109C>T	1.37:g.244579342G>A	ENSP00000355493:p.Thr370Met						p.T370M	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		11	1425	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	370						Missense_Mutation	SNP	ENST00000366535.3	37	c.1109C>T	CCDS1624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	ADSS	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG		0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		67	174	0	0	0	1	0	67	174					A	244579342	G	A	244579342	3	1	79	1	0	0	0	0	1	0	0	0	347	1145	40	1	273	1	ADSS	1	244579342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360787	244579342	4671279	2036	12353											
C1orf101	257044	broad.mit.edu	37	chr1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaatgctatcaaatgacaGcattattcatgaagttttca	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	495						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAAATGACAGCATTATTCAT	0.328																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1483-1485)aGc>aAc		chromosome 1 open reading frame 101							83	83	83					1																	244724424		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244724424G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1484G>A	1.37:g.244724424G>A	ENSP00000355492:p.Ser495Asn					C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1538	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		495					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1484G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478964	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.95	4.02	0.46733	.	0.284401	0.30732	N	0.008986	T	0.37265	0.0997	L	0.59436	1.845	0.21652	N	0.999608	D;D;D;D	0.76494	0.999;0.996;0.999;0.965	D;D;D;P	0.74023	0.982;0.923;0.951;0.832	T	0.06006	-1.0851	10	0.59425	D	0.04	.	8.5598	0.33503	0.1052:0.0:0.8948:0.0	.	415;495;495;344	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	495;495;495;415;344	ENSP00000355492:S495N;ENSP00000355491:S495N;ENSP00000395796:S415N;ENSP00000355489:S344N	ENSP00000355489:S344N	S	+	2	0	C1orf101	242791047	0.970000	0.33590	0.629000	0.29254	0.201000	0.24016	3.323000	0.52014	2.439000	0.82584	0.563000	0.77884	AGC		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		115	344	0	0	0	1	0	115	344					A	244724424	G	A	244724424	3	1	79	1	0	0	0	0	1	0	0	0	1983	971	34	2	1522	2	C1orf101	1	244724424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145082	244724424	4526197	2037	12354											
FAM36A	116228	broad.mit.edu	37	chr1	245006387	245006387	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcaaagaatccaggaaaGaattgccagagaagaaatta	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245006387G>T	ENST00000411948.2	+	4	659	c.266G>T	c.(265-267)aGa>aTa	p.R89I	HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Missense_Mutation_p.R101I|HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000498262.1_3'UTR	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	89						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ATCCAGGAAAGAATTGCCAGA	0.318																																						ENST00000411948.2																			0											c.(265-267)aGa>aTa		COX20 cytochrome C oxidase assembly factor							35	43	40					1																	245006387		2190	4298	6488	SO:0001583	missense	116228					integral to membrane		g.chr1:245006387G>T	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.266G>T	1.37:g.245006387G>T	ENSP00000406327:p.Arg89Ile					COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.R101I	p.R89I	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			4	659	+			89					Q8WV86	Missense_Mutation	SNP	ENST00000411948.2	37	c.266G>T	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259239	0.80246	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	5.63	0.86233	.	0.041393	0.85682	D	0.000000	T	0.78848	0.4348	M	0.83603	2.65	0.58432	D	0.999997	D	0.71674	0.998	D	0.66979	0.948	T	0.81441	-0.0931	9	0.72032	D	0.01	-26.0448	12.9433	0.58359	0.0741:0.0:0.9259:0.0	.	89	Q5RI15	FA36A_HUMAN	I	89;101	.	ENSP00000355486:R101I	R	+	2	0	FAM36A	243073010	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.314000	0.59166	2.646000	0.89796	0.557000	0.71058	AGA		0.318	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076		6	198	1	0	0.000442599	1	0.000448314	6	198					T	245006387	G	T	245006387	3	4	79	1	0	0	0	0	1	0	0	0	5579	942	33	3	280	3	FAM36A	1	245006387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281963	245006387	4244234	2038	12355											
HNRNPU	3192	broad.mit.edu	37	chr1	245027598	245027598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttttacattaacaggCgaggaactcatggtgagggc	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000283179.9	-	1	175	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Silent_p.S4S			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(10-12)tcG>tcA		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							24	28	26					1																	245027598		2200	4294	6494	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027598C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.12G>A	1.37:g.245027598C>T						HNRNPU_ENST00000283179.9_Silent_p.S4S	p.S4S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	246	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		4			Asp/Glu-rich (acidic).		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.12G>A	CCDS41479.1																																																																																				0.602	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		41	163	0	0	0	1	0	41	163					T	245027598	C	T	245027598	2	4	79	1	0	0	0	0	0	0	0	1	7303	755	27	1		1	HNRNPU	1	245027598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21211	245027598	4223023	2039	12356											
KIF26B	55083	broad.mit.edu	37	chr1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaactacacaggcttcGccaacaagcacggcagcaaa	7	16	0	0	rs538698748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	261					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(781-783)Gcc>Acc		kinesin family member 26B																																				SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530451G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.781G>A	1.37:g.245530451G>A	ENSP00000385545:p.Ala261Thr					KIF26B_ENST00000479506.1_3'UTR	p.A261T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1221	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		261					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.781G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647193	0.29246	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.57	2.53	0.30540	.	0.464285	0.18794	N	0.131000	T	0.63651	0.2529	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.25105	0.118;0.103	B;B	0.14578	0.011;0.01	T	0.54009	-0.8357	10	0.37606	T	0.19	.	9.0255	0.36227	0.1336:0.2209:0.6455:0.0	.	261;261	B4DF75;Q2KJY2	.;KI26B_HUMAN	T	261	ENSP00000385545:A261T	ENSP00000385545:A261T	A	+	1	0	KIF26B	243597074	0.000000	0.05858	0.722000	0.30670	0.790000	0.44656	-0.060000	0.11712	1.353000	0.45828	0.655000	0.94253	GCC		0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	64	0	0	0	1	0	6	64					A	245530451	G	A	245530451	3	1	79	1	0	0	0	0	1	0	0	0	8325	1087	38	1	791	1	KIF26B	1	245530451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502853	245530451	3720170	2040	12357											
KIF26B	55083	broad.mit.edu	37	chr1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaagcacggcagcaaAcccagcagccttggggtcag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	267					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(799-801)aaA>aaC		kinesin family member 26B							25	34	31					1																	245530471		1996	4166	6162	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530471A>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.801A>C	1.37:g.245530471A>C	ENSP00000385545:p.Lys267Asn					KIF26B_ENST00000479506.1_3'UTR	p.K267N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1241	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		267					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.801A>C	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038421	0.55003	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.75	0.452	0.16634	.	0.751547	0.12006	N	0.508288	D	0.82467	0.5043	M	0.62723	1.935	0.80722	D	1	P;D	0.60575	0.932;0.988	B;P	0.52957	0.445;0.714	T	0.80710	-0.1261	10	0.87932	D	0	.	10.5632	0.45156	0.7217:0.0:0.2783:0.0	.	267;267	B4DF75;Q2KJY2	.;KI26B_HUMAN	N	267	ENSP00000385545:K267N	ENSP00000385545:K267N	K	+	3	2	KIF26B	243597094	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.715000	0.25822	0.133000	0.18654	0.533000	0.62120	AAA		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		15	51	0	0	0	1	0	15	51					C	245530471	A	C	245530471	3	2	79	1	0	0	0	0	1	0	0	0	8325	40	2	4	811	4	KIF26B	1	245530471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	245530471	3720150	2041	12358											
KIF26B	55083	broad.mit.edu	37	chr1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcttcgtggaaggcaaGcccaggcccatgggctcccc	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000407071.2	+	12	3617	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K678N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1059					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2032-2034)aaG>aaT		kinesin family member 26B							17	22	21					1																	245849462		2024	4151	6175	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849462G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3177G>T	1.37:g.245849462G>T	ENSP00000385545:p.Lys1059Asn					KIF26B_ENST00000407071.2_Missense_Mutation_p.K1059N	p.K678N			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2138	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1059			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2034G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860041	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.32	5.77	4.86	0.63082	.	.	.	.	.	D	0.86197	0.5875	M	0.75447	2.3	0.50632	D	0.999884	D;D	0.89917	0.999;1.0	D;D	0.69307	0.922;0.963	D	0.83558	0.0105	9	0.30078	T	0.28	.	8.3751	0.32438	0.2115:0.0:0.7885:0.0	.	678;1059	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1059;678;675	ENSP00000385545:K1059N;ENSP00000355475:K678N	ENSP00000355475:K678N	K	+	3	2	KIF26B	243916085	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.502000	0.53332	2.744000	0.94065	0.561000	0.74099	AAG		0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		31	182	1	0	4.34311e-12	1	4.6502e-12	31	182					T	245849462	G	T	245849462	3	4	79	1	0	0	0	0	1	0	0	0	8325	962	34	3	3223	3	KIF26B	1	245849462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318991	245849462	3401159	2042	12359											
KIF26B	55083	broad.mit.edu	37	chr1	245849753	245849753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgtcgatgatgagcaGcaggcagctactccttcaga	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000407071.2	+	12	3908	c.3468G>A	c.(3466-3468)caG>caA	p.Q1156Q	KIF26B_ENST00000366518.4_Silent_p.Q775Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1156					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2323-2325)caG>caA		kinesin family member 26B							54	64	60					1																	245849753		2163	4247	6410	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849753G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3468G>A	1.37:g.245849753G>A						KIF26B_ENST00000407071.2_Silent_p.Q1156Q	p.Q775Q			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2429	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1156					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2325G>A	CCDS44342.1																																																																																				0.577	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		105	465	0	0	0	1	0	105	465					A	245849753	G	A	245849753	2	1	79	1	0	0	0	0	0	0	0	1	8325	962	34	2		2	KIF26B	1	245849753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	245849753	3400868	2043	12360											
KIF26B	55083	broad.mit.edu	37	chr1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactccagcacggcccccGtctccgaggtcagcatcaca	9	18	3	0	rs371194278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000407071.2	+	12	4182	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V867I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1248					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18867	0.0		0.0	False		,,,				2504	0.001					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2599-2601)Gtc>Atc		kinesin family member 26B		G	ILE/VAL	0,4304		0,0,2152	31	37	35		3742	5.8	0.8	1		35	1,8499		0,1,4249	no	missense	KIF26B	NM_018012.3	29	0,1,6401	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	1248/2109	245850027	1,12803	2152	4250	6402	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850027G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3742G>A	1.37:g.245850027G>A	ENSP00000385545:p.Val1248Ile					KIF26B_ENST00000407071.2_Missense_Mutation_p.V1248I	p.V867I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2703	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1248					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2599G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950125	0.34377	0.0	1.18E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.69878	0.3160	L	0.40543	1.245	0.38325	D	0.943622	B;B	0.33379	0.41;0.123	B;B	0.17098	0.017;0.013	T	0.70219	-0.4932	9	0.37606	T	0.19	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	867;1248	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1248;867;864	ENSP00000385545:V1248I;ENSP00000355475:V867I	ENSP00000355475:V867I	V	+	1	0	KIF26B	243916650	1.000000	0.71417	0.777000	0.31699	0.274000	0.26718	5.310000	0.65780	2.744000	0.94065	0.561000	0.74099	GTC		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		31	104	0	0	0	1	0	31	104					A	245850027	G	A	245850027	3	1	79	1	0	0	0	0	1	0	0	0	8325	1145	40	1	3788	1	KIF26B	1	245850027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274	245850027	3400594	2044	12361											
KIF26B	55083	broad.mit.edu	37	chr1	245850356	245850356	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaacaaagcagcccccatCaaaggctgcaaaatatccac	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000407071.2	+	12	4511	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	KIF26B_ENST00000366518.4_Silent_p.I976I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1357					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2926-2928)atC>atT		kinesin family member 26B							59	64	62					1																	245850356		2054	4196	6250	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850356C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4071C>T	1.37:g.245850356C>T						KIF26B_ENST00000407071.2_Silent_p.I1357I	p.I976I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3032	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1357					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2928C>T	CCDS44342.1																																																																																				0.542	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		30	111	0	0	0	1	0	30	111					T	245850356	C	T	245850356	2	4	79	1	0	0	0	0	0	0	0	1	8325	816	29	2		2	KIF26B	1	245850356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329	245850356	3400265	2045	12362											
KIF26B	55083	broad.mit.edu	37	chr1	245850742	245850742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacggaaagcccagtcCgggagacaggctcagcagca	15	12	1	1	rs201038043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	ENST00000407071.2	+	12	4897	c.4457C>A	c.(4456-4458)cCg>cAg	p.P1486Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1105Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1486					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCCCAGTCCGGGAGACAGG	0.627																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3313-3315)cCg>cAg		kinesin family member 26B							23	28	27					1																	245850742		2147	4254	6401	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850742C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4457C>A	1.37:g.245850742C>A	ENSP00000385545:p.Pro1486Gln					KIF26B_ENST00000407071.2_Missense_Mutation_p.P1486Q	p.P1105Q			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3418	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1486					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3314C>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218975	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.0	5.42	5.42	0.78866	.	.	.	.	.	T	0.64091	0.2567	N	0.22421	0.69	0.09310	N	1	B;B	0.30193	0.272;0.128	B;B	0.24269	0.052;0.052	T	0.50725	-0.8794	9	0.19590	T	0.45	.	13.8387	0.63426	0.0:0.9263:0.0:0.0737	.	1105;1486	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1486;1105;1102	ENSP00000385545:P1486Q;ENSP00000355475:P1105Q	ENSP00000355475:P1105Q	P	+	2	0	KIF26B	243917365	0.000000	0.05858	0.006000	0.13384	0.339000	0.28857	0.880000	0.28159	2.700000	0.92200	0.561000	0.74099	CCG		0.627	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		13	43	1	0	2.61681e-11	1	2.78987e-11	13	43					A	245850742	C	A	245850742	3	1	79	1	0	0	0	0	1	0	0	0	8325	652	23	3	4503	3	KIF26B	1	245850742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	245850742	3399879	2046	12363											
KIF26B	55083	broad.mit.edu	37	chr1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaagtccctgccgcaggCggtgggccagggctccagct	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000407071.2	+	12	5737	c.5297C>T	c.(5296-5298)gCg>gTg	p.A1766V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1385V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1766	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4153-4155)gCg>gTg		kinesin family member 26B							10	11	11					1																	245851582		1509	3329	4838	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851582C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5297C>T	1.37:g.245851582C>T	ENSP00000385545:p.Ala1766Val					KIF26B_ENST00000407071.2_Missense_Mutation_p.A1766V	p.A1385V			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4258	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1766					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4154C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938823	0.34189	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.44	5.44	0.79542	.	.	.	.	.	T	0.63367	0.2505	L	0.27053	0.805	0.33178	D	0.549156	P;P	0.36483	0.555;0.555	B;B	0.21151	0.033;0.023	T	0.67711	-0.5600	9	0.15952	T	0.53	.	19.256	0.93945	0.0:1.0:0.0:0.0	.	1385;1766	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1766;1385;1382	ENSP00000385545:A1766V;ENSP00000355475:A1385V	ENSP00000355475:A1385V	A	+	2	0	KIF26B	243918205	0.999000	0.42202	0.884000	0.34674	0.396000	0.30629	5.894000	0.69806	2.561000	0.86390	0.462000	0.41574	GCG		0.706	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		37	135	0	0	0	1	0	37	135					T	245851582	C	T	245851582	3	4	79	1	0	0	0	0	1	0	0	0	8325	768	27	1	5343	1	KIF26B	1	245851582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	245851582	3399039	2047	12364											
TFB2M	64216	broad.mit.edu	37	chr1	246707824	246707824	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattctttttactcaccGtaagtggtctattacagtgg	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	340					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTACTCACCGTAAGTGGTCT	0.333																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.e7+1		transcription factor B2, mitochondrial							88	95	92					1																	246707824		2203	4300	6503	SO:0001630	splice_region_variant	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246707824G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1019+1C>T	1.37:g.246707824G>A							p.R340_splice	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		7	1203	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		340					Q9H626	Splice_Site	SNP	ENST00000366514.4	37	c.1019_splice	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878893	0.33162	.	.	ENSG00000162851	ENST00000366514	T	0.32753	1.44	5.12	-1.46	0.08800	.	0.696260	0.12484	N	0.464829	T	0.37945	0.1022	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.26883	-1.0090	10	0.72032	D	0.01	0.5149	8.2217	0.31545	0.0852:0.0:0.2499:0.6649	.	340	Q9H5Q4	TFB2M_HUMAN	C	340	ENSP00000355471:R340C	ENSP00000355471:R340C	R	-	1	0	TFB2M	244774447	0.641000	0.27251	0.013000	0.15412	0.052000	0.14988	0.524000	0.22940	-0.013000	0.14199	0.655000	0.94253	CGT		0.333	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366	Missense_Mutation	53	347	0	0	0	1	0	53	347					A	246707824	G	A	246707824	5	1	79	1	0	0	0	0	0	0	1	0	15846	1159	40	1	180	1	TFB2M	1	246707824	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856242	246707824	2542797	2048	12365											
SCCPDH	51097	broad.mit.edu	37	chr1	246922335	246922335	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcataggtctgtcttgcaGgtggccaatttcttattgtc	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246922335G>T	ENST00000366510.3	+	7	1071		c.e7-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTCTTGCAGGTGGCCAATT	0.413																																						ENST00000366510.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17						c.e7-1		saccharopine dehydrogenase (putative)							235	229	231					1																	246922335		2203	4300	6503	SO:0001630	splice_region_variant	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246922335G>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.696-1G>T	1.37:g.246922335G>T								NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	7	1071	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)						Q8TAR0|Q9Y363	Splice_Site	SNP	ENST00000366510.3	37		CCDS31084.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543957	0.86022	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244988958	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.007000	0.88571	2.878000	0.98634	0.650000	0.86243	.		0.413	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002	Intron	38	983	1	0	4.65686e-17	1	5.13078e-17	38	983					T	246922335	G	T	246922335	5	4	79	1	0	0	0	0	0	0	1	0	13935	1014	35	3	721	3	SCCPDH	1	246922335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214511	246922335	2328286	2049	12366											
AHCTF1	25909	broad.mit.edu	37	chr1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatactgagtgcaatgaacGtttttggctttgactttcag	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000391829.2	-	33	6298	c.6175C>T	c.(6175-6177)Cgt>Tgt	p.R2059C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2094C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2059	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)			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)			TGCAATGAACGTTTTTGGCTT	0.383																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(6280-6282)Cgt>Tgt		AT hook containing transcription factor 1							223	191	202					1																	247013133		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.chr1:247013133G>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.6175C>T	1.37:g.247013133G>A	ENSP00000375705:p.Arg2059Cys					AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2059C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C	p.R2094C			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6416	-	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)	2059			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6280C>T		.	.	.	.	.	.	.	.	.	.	G	6.668	0.491884	0.12702	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.84	-6.14	0.02111	.	1.881720	0.02109	N	0.054606	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.011	B;B	0.10450	0.005;0.002	T	0.20107	-1.0285	10	0.56958	D	0.05	4.6019	2.6008	0.04866	0.1314:0.319:0.2688:0.2807	.	2094;2059	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	2094;2068;2059	ENSP00000355464:R2094C;ENSP00000355465:R2068C;ENSP00000375705:R2059C	ENSP00000355465:R2068C	R	-	1	0	AHCTF1	245079756	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.163000	0.09997	-1.113000	0.02981	-0.795000	0.03280	CGT		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		23	566	0	0	0	1	0	23	566					A	247013133	G	A	247013133	3	1	79	1	0	0	0	0	1	0	0	0	408	1145	40	1	641	1	AHCTF1	1	247013133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90798	247013133	2237488	2050	12367											
AHCTF1	25909	broad.mit.edu	37	chr1	247013154	247013154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctttgactttcagTcttttttgtaagttttttct	6	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013154T>C	ENST00000391829.2	-	33	6277	c.6154A>G	c.(6154-6156)Act>Gct	p.T2052A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T2087A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2052	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)			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)			TGACTTTCAGTCTTTTTTGTA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(6259-6261)Act>Gct		AT hook containing transcription factor 1							180	159	166					1																	247013154		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.chr1:247013154T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6154A>G	1.37:g.247013154T>C	ENSP00000375705:p.Thr2052Ala					AHCTF1_ENST00000391829.2_Missense_Mutation_p.T2052A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A	p.T2087A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6395	-	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)	2052			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6259A>G		.	.	.	.	.	.	.	.	.	.	T	4.100	0.016618	0.07959	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.30448	1.53;1.53;1.53	5.84	0.298	0.15766	.	0.749491	0.12556	N	0.458613	T	0.23410	0.0566	L	0.54323	1.7	0.09310	N	1	B;B	0.29988	0.264;0.172	B;B	0.28011	0.085;0.039	T	0.28038	-1.0056	10	0.16420	T	0.52	-2.1585	6.8913	0.24230	0.5443:0.068:0.0:0.3877	.	2087;2052	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	2087;2061;2052	ENSP00000355464:T2087A;ENSP00000355465:T2061A;ENSP00000375705:T2052A	ENSP00000355465:T2061A	T	-	1	0	AHCTF1	245079777	0.000000	0.05858	0.023000	0.16930	0.003000	0.03518	-0.072000	0.11486	-0.215000	0.10063	-0.266000	0.10368	ACT		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		9	565	0	0	0	1	0	9	565					C	247013154	T	C	247013154	3	2	79	1	0	0	0	0	1	0	0	0	408	1667	58	4	662	4	AHCTF1	1	247013154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	247013154	2237467	2051	12368											
AHCTF1	25909	broad.mit.edu	37	chr1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttttagatcatttataAtttcaacactttcctgattt	2	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000391829.2	-	33	5783	c.5660T>G	c.(5659-5661)aTt>aGt	p.I1887S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I1922S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1887	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)			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)			ATCATTTATAATTTCAACACT	0.299																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(5764-5766)aTt>aGt		AT hook containing transcription factor 1							47	50	49					1																	247013648		2188	4284	6472	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.chr1:247013648A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5660T>G	1.37:g.247013648A>C	ENSP00000375705:p.Ile1887Ser					AHCTF1_ENST00000391829.2_Missense_Mutation_p.I1887S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S	p.I1922S			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5901	-	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)	1887			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5765T>G		.	.	.	.	.	.	.	.	.	.	A	4.158	0.027809	0.08054	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32023	1.47;1.48;1.48	5.51	4.38	0.52667	.	0.533640	0.19487	N	0.113088	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.029;0.017	B;B;B	0.30316	0.114;0.009;0.004	T	0.25984	-1.0116	10	0.08381	T	0.77	-8.8873	5.734	0.18057	0.7059:0.1436:0.1505:0.0	.	748;1922;1887	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1922;1896;1887	ENSP00000355464:I1922S;ENSP00000355465:I1896S;ENSP00000375705:I1887S	ENSP00000355465:I1896S	I	-	2	0	AHCTF1	245080271	0.000000	0.05858	0.691000	0.30163	0.930000	0.56654	0.611000	0.24268	1.018000	0.39521	0.533000	0.62120	ATT		0.299	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		107	259	0	0	0	1	0	107	259					C	247013648	A	C	247013648	3	2	79	1	0	0	0	0	1	0	0	0	408	101	4	4	1156	4	AHCTF1	1	247013648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	494	247013648	2236973	2052	12369											
AHCTF1	25909	broad.mit.edu	37	chr1	247014214	247014214	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgttttggctcactaaAggtattgtttcatgaatgga	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247014214A>C	ENST00000391829.2	-	33	5217	c.5094T>G	c.(5092-5094)ccT>ccG	p.P1698P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1733P|AHCTF1_ENST00000326225.3_Silent_p.P1707P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1698	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {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)			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)			GGCTCACTAAAGGTATTGTTT	0.348																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(5197-5199)ccT>ccG		AT hook containing transcription factor 1							84	83	83					1																	247014214		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:247014214A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5094T>G	1.37:g.247014214A>C						AHCTF1_ENST00000391829.2_Silent_p.P1698P|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.P1707P	p.P1733P			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5335	-	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)	1698			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5199T>G																																																																																					0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		15	456	0	0	0	1	0	15	456					C	247014214	A	C	247014214	2	2	79	1	0	0	0	0	0	0	0	1	408	59	3	4		4	AHCTF1	1	247014214	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	566	247014214	2236407	2053	12370											
AHCTF1	25909	broad.mit.edu	37	chr1	247040288	247040288	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtttggttcagcttcaaGgcaggcacataattggcacg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000391829.2	-	23	3024	c.2901C>A	c.(2899-2901)gcC>gcA	p.A967A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1002A|AHCTF1_ENST00000326225.3_Silent_p.A976A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	967	Necessary for cytoplasmic 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)			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)			TCAGCTTCAAGGCAGGCACAT	0.388																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(3004-3006)gcC>gcA		AT hook containing transcription factor 1							86	84	85					1																	247040288		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:247040288G>T		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.2901C>A	1.37:g.247040288G>T						AHCTF1_ENST00000391829.2_Silent_p.A967A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A976A	p.A1002A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		23	3142	-	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)	967					A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3006C>A																																																																																					0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		76	300	1	0	3.4779e-39	1	4.20191e-39	76	300					T	247040288	G	T	247040288	2	4	79	1	0	0	0	0	0	0	0	1	408	987	35	3		3	AHCTF1	1	247040288	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26074	247040288	2210333	2054	12371											
AHCTF1	25909	broad.mit.edu	37	chr1	247051761	247051761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacaacttctcaattcGctctcctaactgagaaacca	3	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247051761G>A	ENST00000391829.2	-	18	2326	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R770*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	735	Necessary for cytoplasmic 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)			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)			TTCTCAATTCGCTCTCCTAAC	0.408																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(2308-2310)Cga>Tga		AT hook containing transcription factor 1							92	88	89					1																	247051761		2203	4297	6500	SO:0001587	stop_gained	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.chr1:247051761G>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.2203C>T	1.37:g.247051761G>A	ENSP00000375705:p.Arg735*					AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R735*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*	p.R770*			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		18	2444	-	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)	735			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37	c.2308C>T		.	.	.	.	.	.	.	.	.	.	G	40	7.950270	0.98577	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.26	0.549	0.17213	.	0.662265	0.15314	N	0.268929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.9514	7.5402	0.27733	0.0666:0.4772:0.3241:0.1321	.	.	.	.	X	770;744;735	.	ENSP00000355465:R744X	R	-	1	2	AHCTF1	245118384	0.291000	0.24352	0.064000	0.19789	0.978000	0.69477	1.627000	0.37050	-0.113000	0.11958	0.305000	0.20034	CGA		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		11	349	0	0	0	1	0	11	349					A	247051761	G	A	247051761	4	1	79	1	0	0	0	0	0	1	0	0	408	1095	38	1	4673	1	AHCTF1	1	247051761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11473	247051761	2198860	2055	12372											
AHCTF1	25909	broad.mit.edu	37	chr1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactttccacgaagcacagaTtctaatgttatttcgtcttc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000391829.2	-	2	216	c.93A>T	c.(91-93)gaA>gaT	p.E31D	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E66D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	31	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {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)			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)			GAAGCACAGATTCTAATGTTA	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(196-198)gaA>gaT		AT hook containing transcription factor 1							75	70	72					1																	247081580		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.chr1:247081580T>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.93A>T	1.37:g.247081580T>A	ENSP00000375705:p.Glu31Asp					AHCTF1_ENST00000391829.2_Missense_Mutation_p.E31D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D	p.E66D			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	334	-	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)	31			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.198A>T		.	.	.	.	.	.	.	.	.	.	T	12.53	1.966872	0.34659	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	T;T;T	0.32272	1.46;1.47;1.48	5.54	-1.94	0.07571	.	0.153579	0.56097	N	0.000030	T	0.09024	0.0223	N	0.08118	0	0.30697	N	0.750698	B;B	0.20368	0.044;0.033	B;B	0.22753	0.041;0.011	T	0.19877	-1.0292	10	0.07813	T	0.8	-17.0811	0.7897	0.01055	0.1864:0.1884:0.2585:0.3668	.	66;31	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	D	66;40;31;31	ENSP00000355464:E66D;ENSP00000355465:E40D;ENSP00000375705:E31D	ENSP00000355465:E40D	E	-	3	2	AHCTF1	245148203	0.936000	0.31750	0.996000	0.52242	0.971000	0.66376	-0.053000	0.11846	-0.206000	0.10203	-0.438000	0.05819	GAA		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		29	245	0	0	0	1	0	29	245					A	247081580	T	A	247081580	3	1	79	1	0	0	0	0	1	0	0	0	408	1490	52	5	6847	5	AHCTF1	1	247081580	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29819	247081580	2169041	2056	12373											
ZNF695	57116	broad.mit.edu	37	chr1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatccctatacaaactccGctgagctgggtccaggcatt	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			TACAAACTCCGCTGAGCTGGG	0.433																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(76-78)Cgg>Tgg		zinc finger protein 695							68	74	72					1																	247163304		2195	4293	6488	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163304G>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	1.37:g.247163304G>A	ENSP00000341236:p.Arg26Trp					ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	p.R26W	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	223	-	all_cancers(71;4.01e-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)	26			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.76C>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		106	298	0	0	0	1	0	106	298					A	247163304	G	A	247163304	3	1	79	1	0	0	0	0	1	0	0	0	18151	1086	38	1	1483	1	ZNF695	1	247163304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81724	247163304	2087317	2057	12374											
ZNF124	7678	broad.mit.edu	37	chr1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttttttatgcttccaaaGggtactagcacgactaaagg	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000543802.2	-	4	1086	c.997C>A	c.(997-999)Ctt>Att	p.L333I	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.L271I|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCTTCCAAAGGGTACTAGCA	0.378																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(811-813)Ctt>Att		zinc finger protein 124							88	89	89					1																	247319927		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319927G>T	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.997C>A	1.37:g.247319927G>T	ENSP00000440365:p.Leu333Ile					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.L333I	p.L271I	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	949	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		333					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.811C>A		.	.	.	.	.	.	.	.	.	.	G	13.92	2.381254	0.42207	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T;T	0.53857	0.6;0.6	0.689	-0.402	0.12404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72581	0.3478	M	0.92367	3.3	0.09310	N	1	P;D	0.62365	0.69;0.991	P;D	0.72982	0.484;0.979	T	0.59484	-0.7446	9	0.66056	D	0.02	.	4.9245	0.13887	0.2653:0.0:0.7347:0.0	.	333;271	Q15973;Q15973-4	ZN124_HUMAN;.	I	294;271;277;137	ENSP00000340749:L271I;ENSP00000440365:L277I	ENSP00000340749:L271I	L	-	1	0	ZNF124	245386550	0.177000	0.23109	0.000000	0.03702	0.745000	0.42441	0.673000	0.25203	-0.168000	0.10853	0.306000	0.20318	CTT		0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		13	325	1	0	4.36969e-10	1	4.6211e-10	13	325					T	247319927	G	T	247319927	3	4	79	1	0	0	0	0	1	0	0	0	17773	1000	35	3	62	3	ZNF124	1	247319927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156623	247319927	1930694	2058	12375											
ZNF124	7678	broad.mit.edu	37	chr1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtgtgatttctcTgatgtatctgaaatgaactg	8	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000543802.2	-	4	511	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q79P|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(235-237)cAg>cCg		zinc finger protein 124							40	43	42					1																	247320502		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320502T>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.422A>C	1.37:g.247320502T>G	ENSP00000440365:p.Gln141Pro					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q141P	p.Q79P	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	374	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		141			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.236A>C		.	.	.	.	.	.	.	.	.	.	T	8.726	0.915547	0.17907	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18810	2.19	0.729	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	M	0.81112	2.525	0.20307	N	0.999911	D;P	0.57899	0.981;0.514	P;B	0.54924	0.764;0.03	T	0.13764	-1.0497	9	0.72032	D	0.01	.	5.6554	0.17640	0.0:0.0:0.0:1.0	.	141;79	Q15973;Q15973-4	ZN124_HUMAN;.	P	102;79;85;85	ENSP00000340749:Q79P	ENSP00000340749:Q79P	Q	-	2	0	ZNF124	245387125	0.064000	0.20934	0.009000	0.14445	0.546000	0.35178	0.514000	0.22786	0.553000	0.29044	0.260000	0.18958	CAG		0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		80	189	0	0	0	1	0	80	189					G	247320502	T	G	247320502	3	3	79	1	0	0	0	0	1	0	0	0	17773	1580	55	4	637	4	ZNF124	1	247320502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	575	247320502	1930119	2059	12376											
ZNF496	84838	broad.mit.edu	37	chr1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagagcctgcttggaaCggcgcttcatgtgcaggcgc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1735-1737)cGt>cAt		zinc finger protein 496							45	45	45					1																	247463849		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463849C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1736G>A	1.37:g.247463849C>T	ENSP00000294753:p.Arg579His					ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	p.R579H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2200	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		579					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1736G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873351	0.72180	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08193	3.13;3.12	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.25158	0.0611	M	0.88310	2.945	0.36444	D	0.865651	D;D	0.69078	0.994;0.997	P;P	0.54965	0.674;0.765	T	0.31081	-0.9956	10	0.62326	D	0.03	-40.1058	10.5324	0.44983	0.0:0.8032:0.1968:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	579;615	ENSP00000294753:R579H;ENSP00000355454:R615H	ENSP00000294753:R579H	R	-	2	0	ZNF496	245530472	0.992000	0.36948	1.000000	0.80357	0.957000	0.61999	0.839000	0.27586	2.388000	0.81334	0.591000	0.81541	CGT		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		75	205	0	0	0	1	0	75	205					T	247463849	C	T	247463849	3	4	79	1	0	0	0	0	1	0	0	0	17998	536	19	1	31	1	ZNF496	1	247463849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143347	247463849	1786772	2060	12377											
ZNF496	84838	broad.mit.edu	37	chr1	247463872	247463872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcatgtgcaggcgctcGtggcggaggaggtcatagtt	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	571					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCAGGCGCTCGTGGCGGAGGA	0.647																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1711-1713)caC>caT		zinc finger protein 496							54	56	55					1																	247463872		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463872G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1713C>T	1.37:g.247463872G>A						ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	p.H571H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2177	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		571					Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1713C>T	CCDS1631.1																																																																																				0.647	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		36	320	0	0	0	1	0	36	320					A	247463872	G	A	247463872	2	1	79	1	0	0	0	0	0	0	0	1	17998	1136	40	1		1	ZNF496	1	247463872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	247463872	1786749	2061	12378											
ZNF496	84838	broad.mit.edu	37	chr1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccaggtggtcgtgccGctggaaggccttcccacact	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	533					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGTCGTGCCGCTGGAAGGCC	0.622																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1597-1599)Cgg>Tgg		zinc finger protein 496							86	86	86					1																	247463988		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463988G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1597C>T	1.37:g.247463988G>A	ENSP00000294753:p.Arg533Trp					ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	p.R533W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2061	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		533					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1597C>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017666	0.54576	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.30182	1.54;1.54	4.5	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288637	0.25001	N	0.033912	T	0.42381	0.1200	L	0.34521	1.04	0.40433	D	0.979968	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.41448	-0.9508	10	0.87932	D	0	-32.0751	11.8952	0.52652	0.0:0.0:0.8243:0.1757	.	569;533	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	533;569	ENSP00000294753:R533W;ENSP00000355454:R569W	ENSP00000294753:R533W	R	-	1	2	ZNF496	245530611	0.000000	0.05858	0.963000	0.40424	0.174000	0.22865	-0.211000	0.09332	1.225000	0.43566	-0.182000	0.12963	CGG		0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		147	466	0	0	0	1	0	147	466					A	247463988	G	A	247463988	3	1	79	1	0	0	0	0	1	0	0	0	17998	1086	38	1	170	1	ZNF496	1	247463988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	247463988	1786633	2062	12379											
ZNF496	84838	broad.mit.edu	37	chr1	247492622	247492622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccaggaactgctccaGcaccagcagctccagaatct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247492622G>A	ENST00000294753.4	-	3	723	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ZNF496_ENST00000366498.2_Silent_p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	87	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AACTGCTCCAGCACCAGCAGC	0.716																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(259-261)Ctg>Ttg		zinc finger protein 496							27	32	31					1																	247492622		2202	4299	6501	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492622G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.259C>T	1.37:g.247492622G>A						ZNF496_ENST00000366498.2_Silent_p.L87L	p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	723	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		87			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.259C>T	CCDS1631.1																																																																																				0.716	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		11	424	0	0	0	1	0	11	424					A	247492622	G	A	247492622	2	1	79	1	0	0	0	0	0	0	0	1	17998	962	34	2		2	ZNF496	1	247492622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28634	247492622	1757999	2063	12380											
NLRP3	114548	broad.mit.edu	37	chr1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggtacctggaggacCtggaggatgtggacttgaag	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000336119.3	+	1	795	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	17	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGAGGACCTGGAGGATGT	0.552																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(49-51)Ctg>Atg		NLR family, pyrin domain containing 3							46	46	46					1																	247582145		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582145C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.49C>A	1.37:g.247582145C>A	ENSP00000337383:p.Leu17Met					NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M	p.L17M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	829	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	17			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.49C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631923	0.46944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.49	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.232835	0.22666	N	0.057123	T	0.80639	0.4661	M	0.88241	2.94	0.26695	N	0.971287	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	6.5523	0.22442	0.0:0.6946:0.0:0.3054	.	17;17;17;17;17	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	17	ENSP00000375704:L17M;ENSP00000355453:L17M;ENSP00000337383:L17M;ENSP00000294752:L17M;ENSP00000355452:L17M;ENSP00000375703:L17M	ENSP00000337383:L17M	L	+	1	2	NLRP3	245648768	0.045000	0.20229	0.519000	0.27824	0.728000	0.41692	0.354000	0.20146	0.254000	0.21573	-0.258000	0.10820	CTG		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		44	219	1	0	1.48734e-19	1	1.65976e-19	44	219					A	247582145	C	A	247582145	3	1	79	1	0	0	0	0	1	0	0	0	10520	680	24	3	51	3	NLRP3	1	247582145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89523	247582145	1668476	2064	12381											
NLRP3	114548	broad.mit.edu	37	chr1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggagcacggcctctgcGcccacctctgggggctctgc	14	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000336119.3	+	3	2136	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	464	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGCCTCTGCGCCCACCTCTG	0.597																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1390-1392)Gcc>Acc		NLR family, pyrin domain containing 3							28	28	28					1																	247588135		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588135G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1390G>A	1.37:g.247588135G>A	ENSP00000337383:p.Ala464Thr					NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T	p.A464T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2170	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	464			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1390G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077163	0.08485	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.17	1.24	0.21308	NACHT nucleoside triphosphatase (1);	0.811250	0.10970	N	0.613951	T	0.75064	0.3799	N	0.26162	0.8	0.09310	N	1	B;B;P;B;B	0.50528	0.299;0.424;0.936;0.092;0.07	B;B;B;B;B	0.42462	0.019;0.187;0.388;0.063;0.019	T	0.63756	-0.6565	10	0.14252	T	0.57	.	4.4665	0.11691	0.2042:0.1845:0.6113:0.0	.	464;464;464;464;464	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	464	ENSP00000375704:A464T;ENSP00000355453:A464T;ENSP00000337383:A464T;ENSP00000294752:A464T;ENSP00000355452:A464T;ENSP00000375703:A464T	ENSP00000337383:A464T	A	+	1	0	NLRP3	245654758	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	0.299000	0.22661	-0.165000	0.13383	GCC		0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		18	222	0	0	0	1	0	18	222					A	247588135	G	A	247588135	3	1	79	1	0	0	0	0	1	0	0	0	10520	1087	38	1	1400	1	NLRP3	1	247588135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5990	247588135	1662486	2065	12382											
NLRP3	114548	broad.mit.edu	37	chr1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggtatttgatttttgTtgtacgtttcctctttggcc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000336119.3	+	3	2473	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	576					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATTTTTGTTGTACGTTTC	0.473																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1726-1728)gTt>gCt		NLR family, pyrin domain containing 3							61	58	59					1																	247588472		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588472T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1727T>C	1.37:g.247588472T>C	ENSP00000337383:p.Val576Ala					NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A	p.V576A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2507	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	576					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1727T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443189	0.25987	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	3.96	0.45880	.	0.000000	0.48286	D	0.000199	T	0.77136	0.4086	L	0.52364	1.645	0.32027	N	0.599963	B;P;B;B;B	0.37141	0.125;0.584;0.178;0.094;0.057	B;B;B;B;B	0.39094	0.082;0.29;0.108;0.108;0.119	T	0.77694	-0.2492	10	0.26408	T	0.33	.	9.5208	0.39133	0.0:0.0:0.0:1.0	.	576;576;576;576;576	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	A	576	ENSP00000375704:V576A;ENSP00000355453:V576A;ENSP00000337383:V576A;ENSP00000294752:V576A;ENSP00000355452:V576A;ENSP00000375703:V576A	ENSP00000337383:V576A	V	+	2	0	NLRP3	245655095	0.856000	0.29760	0.997000	0.53966	0.875000	0.50365	2.006000	0.40874	2.024000	0.59613	0.533000	0.62120	GTT		0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		77	216	0	0	0	1	0	77	216					C	247588472	T	C	247588472	3	2	79	1	0	0	0	0	1	0	0	0	10520	1725	60	4	1737	4	NLRP3	1	247588472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	337	247588472	1662149	2066	12383											
NLRP3	114548	broad.mit.edu	37	chr1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccttggtcctcagcaGcaaccagaagctggtggagc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000336119.3	+	5	3133	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	796					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCCTCAGCAGCAACCAGAAG	0.557																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2386-2388)aGc>aAc		NLR family, pyrin domain containing 3							131	121	125					1																	247597464		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597464G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2387G>A	1.37:g.247597464G>A	ENSP00000337383:p.Ser796Asn					NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000336119.3_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N	p.S796N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3167	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	853					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2387G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096623	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93019	0.71;0.62;0.71;-3.15;0.62;-3.15	3.44	1.49	0.22878	.	0.747174	0.12005	N	0.508408	D	0.87997	0.6319	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.002	T	0.76446	-0.2956	10	0.34782	T	0.22	.	7.3519	0.26695	0.2236:0.0:0.7764:0.0	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	N	796;796;796;739;796;739	ENSP00000375704:S796N;ENSP00000355453:S796N;ENSP00000337383:S796N;ENSP00000294752:S739N;ENSP00000355452:S796N;ENSP00000375703:S739N	ENSP00000337383:S796N	S	+	2	0	NLRP3	245664087	0.000000	0.05858	0.416000	0.26546	0.639000	0.38242	0.242000	0.18087	0.435000	0.26365	0.472000	0.43445	AGC		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		137	494	0	0	0	1	0	137	494					A	247597464	G	A	247597464	3	1	79	1	0	0	0	0	1	0	0	0	10520	971	34	2	2405	2	NLRP3	1	247597464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8992	247597464	1653157	2067	12384											
NLRP3	114548	broad.mit.edu	37	chr1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacacttcaagaagaaaagcCtgagctgaccgtcgtctttg	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000336119.3	+	9	3823	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1026					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAAAGCCTGAGCTGACC	0.498																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2905-2907)cCt>cAt		NLR family, pyrin domain containing 3							101	101	101					1																	247611772		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247611772C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3077C>A	1.37:g.247611772C>A	ENSP00000337383:p.Pro1026His					NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000336119.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H	p.P969H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	3686	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	1026					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2906C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270158	0.40194	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.76448	-0.89;-0.93;-0.89;-1.02;-0.93;-0.96	4.49	4.49	0.54785	.	0.000000	0.42420	D	0.000708	D	0.86590	0.5969	M	0.78916	2.43	0.33699	D	0.614343	D;B;D;B;D	0.76494	0.999;0.298;0.999;0.268;0.998	D;B;D;B;P	0.69824	0.966;0.384;0.938;0.111;0.879	D	0.90259	0.4299	10	0.72032	D	0.01	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	1006;969;912;969;1026	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	1026;969;1026;912;969;969	ENSP00000375704:P1026H;ENSP00000355453:P969H;ENSP00000337383:P1026H;ENSP00000294752:P912H;ENSP00000355452:P969H;ENSP00000375703:P969H	ENSP00000337383:P1026H	P	+	2	0	NLRP3	245678395	0.944000	0.32072	0.967000	0.41034	0.372000	0.29890	2.457000	0.45005	2.779000	0.95612	0.637000	0.83480	CCT		0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		15	398	1	0	4.7546e-09	1	4.99022e-09	15	398					A	247611772	C	A	247611772	3	1	79	1	0	0	0	0	1	0	0	0	10520	681	24	3	3111	3	NLRP3	1	247611772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14308	247611772	1638849	2068	12385											
OR2B11	127623	broad.mit.edu	37	chr1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggccagaagtctcctcaGagcccccttcatatctttat	6	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCTCCTCAGAGCCCCCTTC	0.458																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(913-915)Ctg>Atg		olfactory receptor, family 2, subfamily B, member 11							197	211	206					1																	247614372		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614372G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.913C>A	1.37:g.247614372G>T	ENSP00000325682:p.Leu305Met						p.L305M	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	936	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	305					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.913C>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328900	0.10956	.	.	ENSG00000177535	ENST00000318749	T	0.46451	0.87	5.09	4.18	0.49190	.	0.000000	0.42053	D	0.000778	T	0.43897	0.1268	L	0.54863	1.705	0.09310	N	1	D	0.58620	0.983	P	0.50791	0.65	T	0.31364	-0.9946	10	0.40728	T	0.16	.	7.9045	0.29755	0.1816:0.0:0.8184:0.0	.	305	Q5JQS5	OR2BB_HUMAN	M	305	ENSP00000325682:L305M	ENSP00000325682:L305M	L	-	1	2	OR2B11	245680995	0.000000	0.05858	0.054000	0.19295	0.015000	0.08874	-0.423000	0.07034	1.523000	0.49018	0.643000	0.83706	CTG		0.458	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		412	1245	1	0	9.5377e-104	1	1.22715e-103	412	1245					T	247614372	G	T	247614372	3	4	79	1	0	0	0	0	1	0	0	0	11030	933	33	3	43	3	OR2B11	1	247614372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2600	247614372	1636249	2069	12386											
OR2W5	441932	broad.mit.edu	37	chr1	247654784	247654784	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcctggttgtcatgTcccatgaccgctatgtggcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	ENST00000522351.1	+	0	415							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTTGTCATGTCCCATGACCG	0.612																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															102	92	95					1																	247654784		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654784T>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654784T>C										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	415	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.612	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		150	381	0	0	0	1	0	150	381					C	247654784	T	C	247654784	1	2	79	0	1	0	0	0	0	0	0	0	11076	1667	58	4		4	OR2W5	1	247654784	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40412	247654784	1595837	2070	12387											
OR2W5	441932	broad.mit.edu	37	chr1	247654924	247654924	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtcctcagacgatgcaGctctcccggtgtggacgtcg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	ENST00000522351.1	+	0	555							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGACGATGCAGCTCTCCCGGT	0.557																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															122	100	107					1																	247654924		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654924G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654924G>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	555	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		111	429	1	0	5.97918e-35	1	7.12646e-35	111	429					T	247654924	G	T	247654924	1	4	79	0	1	0	0	0	0	0	0	0	11076	962	34	3		3	OR2W5	1	247654924	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	247654924	1595697	2071	12388											
OR2W5	441932	broad.mit.edu	37	chr1	247654999	247654999	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgccatgtcttgtgaGgaaaccatgctggtagaagc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	ENST00000522351.1	+	0	630							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCTTGTGAGGAAACCATGC	0.572																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															139	140	139					1																	247654999		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654999G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654999G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	630	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		204	585	0	0	0	1	0	204	585					A	247654999	G	A	247654999	1	1	79	0	1	0	0	0	0	0	0	0	11076	991	35	2		2	OR2W5	1	247654999	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	247654999	1595622	2072	12389											
OR2W5	441932	broad.mit.edu	37	chr1	247655213	247655213	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctacgtgtacctgaaGccggccaacagctactccca	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	ENST00000522351.1	+	0	844							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTACCTGAAGCCGGCCAACA	0.517																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															130	114	119					1																	247655213		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655213G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655213G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	844	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.517	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		196	537	0	0	0	1	0	196	537					A	247655213	G	A	247655213	1	1	79	0	1	0	0	0	0	0	0	0	11076	971	34	2		2	OR2W5	1	247655213	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214	247655213	1595408	2073	12390											
OR2C3	81472	broad.mit.edu	37	chr1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacagtgtaatggagtgGcctgcagatggcagcgtagc	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(388-390)Cca>Tca		olfactory receptor, family 2, subfamily C, member 3							66	67	67					1																	247695426		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695426G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.388C>T	1.37:g.247695426G>A	ENSP00000355443:p.Pro130Ser					GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	p.P130S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	749	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	130					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.388C>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751204	0.69533	.	.	ENSG00000196242	ENST00000366487	T	0.01838	4.61	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.14570	0.0352	H	0.97340	3.985	0.29354	N	0.865142	D	0.59357	0.985	P	0.54856	0.762	T	0.21724	-1.0237	10	0.87932	D	0	.	10.5643	0.45163	0.0:0.0:0.8055:0.1945	.	130	Q8N628	OR2C3_HUMAN	S	130	ENSP00000355443:P130S	ENSP00000355443:P130S	P	-	1	0	OR2C3	245762049	1.000000	0.71417	0.805000	0.32314	0.930000	0.56654	6.347000	0.73004	0.925000	0.37094	0.650000	0.86243	CCA		0.587	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		27	161	0	0	0	1	0	27	161					A	247695426	G	A	247695426	3	1	79	1	0	0	0	0	1	0	0	0	11035	1203	42	2	578	2	OR2C3	1	247695426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40213	247695426	1555195	2074	12391											
C1orf150	148823	broad.mit.edu	37	chr1	247737654	247737654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttcctgcacccatgaGcatgattatgaagttgtgtt	9	9	0	3	rs577619243	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247737654G>T	ENST00000366488.4	+	5	482	c.378G>T	c.(376-378)gaG>gaT	p.E126D	GCSAML_ENST00000536561.1_Missense_Mutation_p.E106D|GCSAML_ENST00000527541.1_Missense_Mutation_p.E94D|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.E94D|GCSAML_ENST00000366491.2_Missense_Mutation_p.E106D|GCSAML_ENST00000366489.1_Missense_Mutation_p.E106D|GCSAML_ENST00000463359.1_Missense_Mutation_p.E94D	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	126																	GCACCCATGAGCATGATTATG	0.438																																						ENST00000366491.2																			0											c.(316-318)gaG>gaT		germinal center-associated, signaling and motility-like							146	125	132					1																	247737654		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737654G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.378G>T	1.37:g.247737654G>T	ENSP00000355444:p.Glu126Asp					GCSAML_ENST00000527084.1_Missense_Mutation_p.E94D|GCSAML_ENST00000463359.1_Missense_Mutation_p.E94D|GCSAML_ENST00000366489.1_Missense_Mutation_p.E106D|GCSAML_ENST00000527541.1_Missense_Mutation_p.E94D|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.E126D|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.E106D	p.E106D							7	815	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.318G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114676	0.56505	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	-2.51	0.06365	.	0.572447	0.14497	N	0.315986	T	0.40473	0.1118	M	0.70275	2.135	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.37150	-0.9718	9	0.36615	T	0.2	-0.8533	7.4128	0.27027	0.0:0.449:0.2471:0.3039	.	126	Q5JQS6	CA150_HUMAN	D	94;94;106;106;94;126;106	.	ENSP00000355444:E126D	E	+	3	2	C1orf150	245804277	0.018000	0.18449	0.004000	0.12327	0.356000	0.29392	-0.718000	0.04980	-0.221000	0.09973	0.591000	0.81541	GAG		0.438	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		110	328	1	0	9.53166e-59	1	1.196e-58	110	328					T	247737654	G	T	247737654	3	4	79	1	0	0	0	0	1	0	0	0	2011	962	34	3	396	3	C1orf150	1	247737654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42228	247737654	1512967	2075	12392											
OR13G1	441933	broad.mit.edu	37	chr1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagaatagtaaagggTcaccactgtgagatgagatg	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTAAAGGGTCACCACTGTG	0.448																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(736-738)Acc>Gcc		olfactory receptor, family 13, subfamily G, member 1							161	138	146					1																	247835608		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835608T>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.736A>G	1.37:g.247835608T>C	ENSP00000352717:p.Thr246Ala					RP11-634B7.4_ENST00000449298.1_RNA	p.T246A	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	757	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		246					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.736A>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301627	0.05495	.	.	ENSG00000197437	ENST00000359688	T	0.38560	1.13	4.2	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.530450	0.15888	N	0.239683	T	0.25865	0.0630	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.27785	T	0.31	-38.9238	5.6071	0.17385	0.4267:0.143:0.0:0.4303	.	246	Q8NGZ3	O13G1_HUMAN	A	246	ENSP00000352717:T246A	ENSP00000352717:T246A	T	-	1	0	OR13G1	245902231	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.086000	0.11233	-0.381000	0.07882	-0.445000	0.05633	ACC		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		125	289	0	0	0	1	0	125	289					C	247835608	T	C	247835608	3	2	79	1	0	0	0	0	1	0	0	0	10984	1667	58	4	191	4	OR13G1	1	247835608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97954	247835608	1415013	2076	12393											
OR13G1	441933	broad.mit.edu	37	chr1	247835702	247835702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaatgataaaaccataGgagatgcaggtaagaataaa	9	5	0	3	rs138408145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835702G>T	ENST00000359688.2	-	1	663	c.642C>A	c.(640-642)tcC>tcA	p.S214S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S214S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAACCATAGGAGATGCAGG	0.458																																						ENST00000359688.2																			1	Substitution - coding silent(1)	p.S214S(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(640-642)tcC>tcA		olfactory receptor, family 13, subfamily G, member 1							103	97	99					1																	247835702		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835702G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.642C>A	1.37:g.247835702G>T						RP11-634B7.4_ENST00000449298.1_RNA	p.S214S	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	663	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		214					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.642C>A	CCDS31094.1																																																																																				0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		59	282	1	0	1.38909e-20	1	1.55765e-20	59	282					T	247835702	G	T	247835702	2	4	79	1	0	0	0	0	0	0	0	1	10984	987	35	3		3	OR13G1	1	247835702	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	247835702	1414919	2077	12394											
OR13G1	441933	broad.mit.edu	37	chr1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaatagccatgaccatgCtgagcaaggctacacacata	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGACCATGCTGAGCAAGGC	0.468																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(427-429)aGc>aAc		olfactory receptor, family 13, subfamily G, member 1							104	84	91					1																	247835916		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835916C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.428G>A	1.37:g.247835916C>T	ENSP00000352717:p.Ser143Asn					RP11-634B7.4_ENST00000449298.1_RNA	p.S143N	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	449	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		143					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.428G>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990006	0.18966	.	.	ENSG00000197437	ENST00000359688	T	0.38240	1.15	4.2	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.608395	0.14901	N	0.291811	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B	0.17465	0.022	B	0.21546	0.035	T	0.34054	-0.9844	10	0.72032	D	0.01	-16.9307	4.4	0.11381	0.1502:0.3193:0.4407:0.0898	.	143	Q8NGZ3	O13G1_HUMAN	N	143	ENSP00000352717:S143N	ENSP00000352717:S143N	S	-	2	0	OR13G1	245902539	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.641000	0.05434	-0.101000	0.12219	0.563000	0.77884	AGC		0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		59	258	0	0	0	1	0	59	258					T	247835916	C	T	247835916	3	4	79	1	0	0	0	0	1	0	0	0	10984	797	28	2	499	2	OR13G1	1	247835916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214	247835916	1414705	2078	12395											
OR13G1	441933	broad.mit.edu	37	chr1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttgttatagattttgGcaatgatgatgagcatgttg	13	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGATTTTGGCAATGATGAT	0.438																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(133-135)gCc>gAc		olfactory receptor, family 13, subfamily G, member 1							91	75	81					1																	247836210		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836210G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.134C>A	1.37:g.247836210G>T	ENSP00000352717:p.Ala45Asp					RP11-634B7.4_ENST00000449298.1_RNA	p.A45D	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	155	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		45					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.134C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357934	0.41801	.	.	ENSG00000197437	ENST00000359688	T	0.10573	2.86	4.33	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.191895	0.25419	N	0.030802	T	0.16557	0.0398	M	0.64630	1.985	0.09310	N	1	P	0.40534	0.72	P	0.47705	0.555	T	0.05468	-1.0883	10	0.87932	D	0	-15.2952	6.4924	0.22123	0.3015:0.0:0.6985:0.0	.	45	Q8NGZ3	O13G1_HUMAN	D	45	ENSP00000352717:A45D	ENSP00000352717:A45D	A	-	2	0	OR13G1	245902833	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.215000	0.17562	0.577000	0.29470	-0.137000	0.14449	GCC		0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		50	254	1	0	6.27289e-28	1	7.28045e-28	50	254					T	247836210	G	T	247836210	3	4	79	1	0	0	0	0	1	0	0	0	10984	1203	42	3	793	3	OR13G1	1	247836210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	247836210	1414411	2079	12396											
OR1C1	26188	broad.mit.edu	37	chr1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctgtgctattaggaCagtatgcaggagggcgtgga	17	6	0	0	rs568460638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	161					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)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTATTAGGACAGTATGCAGG	0.507																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(481-483)Gtc>Atc		olfactory receptor, family 1, subfamily C, member 1							71	69	69					1																	247921228		2084	4232	6316	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921228C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.481G>A	1.37:g.247921228C>T	ENSP00000386138:p.Val161Ile						p.V161I	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	754	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	161					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.481G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.662999	0.03428	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18718	0.0449	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.31110	-0.9955	9	0.72032	D	0.01	.	1.1296	0.01743	0.3319:0.3316:0.1089:0.2276	.	161	Q15619	OR1C1_HUMAN	I	161	ENSP00000386138:V161I	ENSP00000386138:V161I	V	-	1	0	OR1C1	245987851	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.647000	0.00860	-1.514000	0.01786	-1.099000	0.02127	GTC		0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			48	149	0	0	0	1	0	48	149					T	247921228	C	T	247921228	3	4	79	1	0	0	0	0	1	0	0	0	10994	478	17	2	465	2	OR1C1	1	247921228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85018	247921228	1329393	2080	12397											
OR14A16	284532	broad.mit.edu	37	chr1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatggccttgtttctcaAactgtatataatgggattaa	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(865-867)Ttg>Gtg		olfactory receptor, family 14, subfamily A, member 16							61	60	60					1																	247978167		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978167A>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.865T>G	1.37:g.247978167A>C	ENSP00000350248:p.Leu289Val						p.L289V	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	864	-			289					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.865T>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258888	0.39896	.	.	ENSG00000196772	ENST00000357627	T	0.46451	0.87	3.69	-1.01	0.10169	.	0.462575	0.15624	U	0.252752	T	0.72415	0.3457	H	0.97983	4.12	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63111	-0.6710	10	0.66056	D	0.02	.	9.6549	0.39919	0.543:0.0:0.457:0.0	.	289	Q8NHC5	O14AG_HUMAN	V	289	ENSP00000350248:L289V	ENSP00000350248:L289V	L	-	1	2	OR14A16	246044790	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.549000	0.06041	-0.123000	0.11745	-0.344000	0.07964	TTG		0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		44	224	0	0	0	1	0	44	224					C	247978167	A	C	247978167	3	2	79	1	0	0	0	0	1	0	0	0	10987	11	1	4	68	4	OR14A16	1	247978167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56939	247978167	1272454	2081	12398											
OR14A16	284532	broad.mit.edu	37	chr1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatataatgggattaaaggTtgggggcagcatagtgtaga	15	2	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(841-843)Acc>Gcc		olfactory receptor, family 14, subfamily A, member 16							63	62	62					1																	247978191		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978191T>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.841A>G	1.37:g.247978191T>C	ENSP00000350248:p.Thr281Ala						p.T281A	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	840	-			281					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.841A>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353733	0.11182	.	.	ENSG00000196772	ENST00000357627	T	0.34472	1.36	3.69	-6.23	0.02052	GPCR, rhodopsin-like superfamily (1);	0.484707	0.16856	U	0.196758	T	0.13884	0.0336	N	0.17674	0.51	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.35076	-0.9803	10	0.07644	T	0.81	.	6.2342	0.20754	0.6221:0.1559:0.0:0.222	.	281	Q8NHC5	O14AG_HUMAN	A	281	ENSP00000350248:T281A	ENSP00000350248:T281A	T	-	1	0	OR14A16	246044814	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.457000	0.02374	-1.478000	0.01869	-1.447000	0.01057	ACC		0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		45	223	0	0	0	1	0	45	223					C	247978191	T	C	247978191	3	2	79	1	0	0	0	0	1	0	0	0	10987	1725	60	4	92	4	OR14A16	1	247978191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	247978191	1272430	2082	12399											
OR11L1	391189	broad.mit.edu	37	chr1	248004781	248004781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccaacctggcacagaGcccacgatgcatgaggaagg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004781G>A	ENST00000355784.2	-	1	473	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	140						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGCACAGAGCCCACGATGC	0.602																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(418-420)Ctc>Ttc		olfactory receptor, family 11, subfamily L, member 1							55	52	53					1																	248004781		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004781G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.418C>T	1.37:g.248004781G>A	ENSP00000348033:p.Leu140Phe						p.L140F	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	473	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		140						Missense_Mutation	SNP	ENST00000355784.2	37	c.418C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	4.231	0.041828	0.08196	.	.	ENSG00000197591	ENST00000355784	T	0.00227	8.5	4.42	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.993514	0.08150	N	0.990229	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.19418	-1.0306	10	0.59425	D	0.04	.	6.4674	0.21990	0.1077:0.5241:0.2248:0.1434	.	140	Q8NGX0	O11L1_HUMAN	F	140	ENSP00000348033:L140F	ENSP00000348033:L140F	L	-	1	0	OR11L1	246071404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.775000	0.01783	-1.397000	0.02068	-1.233000	0.01565	CTC		0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		9	395	0	0	0	1	0	9	395					A	248004781	G	A	248004781	3	1	79	1	0	0	0	0	1	0	0	0	10972	971	34	2	554	2	OR11L1	1	248004781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26590	248004781	1245840	2083	12400											
OR11L1	391189	broad.mit.edu	37	chr1	248004962	248004962	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggttggctaggagaagGggcacagtggtggacgtgta	19	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(235-237)ccC>ccA		olfactory receptor, family 11, subfamily L, member 1							74	63	67					1																	248004962		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004962G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.237C>A	1.37:g.248004962G>T							p.P79P	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	292	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		79						Silent	SNP	ENST00000355784.2	37	c.237C>A	CCDS31098.1																																																																																				0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		47	128	1	0	2.68985e-26	1	3.09749e-26	47	128					T	248004962	G	T	248004962	2	4	79	1	0	0	0	0	0	0	0	1	10972	1219	43	3		3	OR11L1	1	248004962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	248004962	1245659	2084	12401											
OR11L1	391189	broad.mit.edu	37	chr1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaaagagcagggcctgCcattcaagaaggttctggaa	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(67-69)tgG>tgA		olfactory receptor, family 11, subfamily L, member 1							65	59	61					1																	248005130		2203	4300	6503	SO:0001587	stop_gained	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005130C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.69G>A	1.37:g.248005130C>T	ENSP00000348033:p.Trp23*						p.W23*	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	124	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		23						Nonsense_Mutation	SNP	ENST00000355784.2	37	c.69G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381564	0.82792	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4167	0.44327	0.0:0.9079:0.0:0.0921	.	.	.	.	X	23	.	ENSP00000348033:W23X	W	-	3	0	OR11L1	246071753	0.000000	0.05858	0.989000	0.46669	0.767000	0.43475	-0.051000	0.11885	2.331000	0.79229	0.543000	0.68304	TGG		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		16	241	0	0	0	1	0	16	241					T	248005130	C	T	248005130	4	4	79	1	0	0	0	0	0	1	0	0	10972	740	26	2	903	2	OR11L1	1	248005130	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	248005130	1245491	2085	12402											
TRIM58	25893	broad.mit.edu	37	chr1	248031265	248031265	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgtgctcttcccagAagtaaggctgtcacaaggct	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	257						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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)			CTCTTCCCAGAAGTAAGGCTG	0.527																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.e5-1		tripartite motif containing 58							95	89	91					1																	248031265		2203	4300	6503	SO:0001630	splice_region_variant	25893					intracellular	zinc ion binding	g.chr1:248031265A>C	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.771-1A>C	1.37:g.248031265A>C							p.R257_splice	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		5	819	+	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)	257					Q6B0H9	Splice_Site	SNP	ENST00000366481.3	37	c.770_splice	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257475	0.39896	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	5.12	1.62	0.23740	.	0.246014	0.28683	N	0.014494	T	0.09555	0.0235	M	0.79805	2.47	0.33518	D	0.591953	P	0.40066	0.701	B	0.39840	0.311	T	0.09422	-1.0675	9	.	.	.	.	6.1537	0.20326	0.7052:0.0:0.2948:0.0	.	257	Q8NG06	TRI58_HUMAN	S	257	ENSP00000355437:R257S	.	R	+	3	2	TRIM58	246097888	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	1.983000	0.40648	0.482000	0.27582	-0.290000	0.09829	AGA		0.527	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	Missense_Mutation	11	114	0	0	0	1	0	11	114					C	248031265	A	C	248031265	5	2	79	1	0	0	0	0	0	0	1	0	16584	260	9	4	789	4	TRIM58	1	248031265	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26135	248031265	1219356	2086	12403											
OR2W3	343171	broad.mit.edu	37	chr1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgcgtgagatgcccGccctgatccggatggcctgc	12	15	0	2	rs201811838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000360358.3	+	1	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.0					ENST00000537741.1																			1	Substitution - Missense(1)	p.A183S(1)	lung(1)	breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(547-549)Gcc>Acc		olfactory receptor, family 2, subfamily W, member 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127	105	112		547	2.2	0	1		112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2W3	NM_001001957.2	58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	183/315	248059435	4,13002	2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059435G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.547G>A	1.37:g.248059435G>A	ENSP00000353516:p.Ala183Thr					OR2W3_ENST00000360358.3_Missense_Mutation_p.A183T	p.A183T			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	804	+	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)		183					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.547G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319015	0.41096	2.27E-4	3.49E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00130	8.69;8.69	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	M	0.80332	2.49	0.09310	N	1	D	0.54047	0.964	P	0.51385	0.668	T	0.38564	-0.9655	10	0.66056	D	0.02	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	T	183	ENSP00000445853:A183T;ENSP00000353516:A183T	ENSP00000353516:A183T	A	+	1	0	OR2W3	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC		0.637	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		96	500	0	0	0	1	0	96	500					A	248059435	G	A	248059435	3	1	79	1	0	0	0	0	1	0	0	0	11075	1087	38	1	549	1	OR2W3	1	248059435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28170	248059435	1191186	2087	12404											
OR2W3	343171	broad.mit.edu	37	chr1	248059536	248059536	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttggtgtttatcctgctCtcttacagctacattgtgag	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000360358.3	+	1	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, 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)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(646-648)ctC>ctA		olfactory receptor, family 2, subfamily W, member 3							203	183	190					1																	248059536		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059536C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>A	1.37:g.248059536C>A						OR2W3_ENST00000360358.3_Silent_p.L216L	p.L216L			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	905	+	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)		216					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.648C>A	CCDS31099.1																																																																																				0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		223	747	1	0	8.35629e-93	1	1.07345e-92	223	747					A	248059536	C	A	248059536	2	1	79	1	0	0	0	0	0	0	0	1	11075	900	32	3		3	OR2W3	1	248059536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101	248059536	1191085	2088	12405											
OR2T8	343172	broad.mit.edu	37	chr1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgaaatcatggaaaatgGgagctatacctcttatttca	7	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			ATGGAAAATGGGAGCTATACC	0.398																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(10-12)gGg>gTg		olfactory receptor, family 2, subfamily T, member 8							100	97	98					1																	248084330		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084330G>T		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.11G>T	1.37:g.248084330G>T	ENSP00000326225:p.Gly4Val						p.G4V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	11	+	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)	4						Missense_Mutation	SNP	ENST00000319968.4	37	c.11G>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585667	0.13749	.	.	ENSG00000177462	ENST00000319968	T	0.00346	8.01	3.65	-0.732	0.11147	.	1.218620	0.06205	U	0.683946	T	0.00144	0.0004	N	0.11560	0.145	0.20821	N	0.999847	B	0.17268	0.021	B	0.20767	0.031	T	0.24440	-1.0160	10	0.30854	T	0.27	.	0.4146	0.00447	0.2891:0.1369:0.3199:0.254	.	4	A6NH00	OR2T8_HUMAN	V	4	ENSP00000326225:G4V	ENSP00000326225:G4V	G	+	2	0	OR2T8	246150953	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.014000	0.12656	-0.050000	0.13356	0.603000	0.83216	GGG		0.398	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		110	418	1	0	1.22879e-52	1	1.5289e-52	110	418					T	248084330	G	T	248084330	3	4	79	1	0	0	0	0	1	0	0	0	11072	1232	43	3	13	3	OR2T8	1	248084330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24794	248084330	1166291	2089	12406											
OR2L8	391190	broad.mit.edu	37	chr1	248112729	248112729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactctggcctgcatggaCacctgggtctatgagggcac	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTGCATGGACACCTGGGTCT	0.473																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(568-570)gaC>gaT		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							128	57	81					1																	248112729		2203	4297	6500	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112729C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.570C>T	1.37:g.248112729C>T						OR2L13_ENST00000366478.2_Intron	p.D190D	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	570	+	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)		190					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.570C>T	CCDS31101.1																																																																																				0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			38	224	0	0	0	1	0	38	224					T	248112729	C	T	248112729	2	4	79	1	0	0	0	0	0	0	0	1	11051	477	17	2		2	OR2L8	1	248112729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28399	248112729	1137892	2090	12407											
OR2L8	391190	broad.mit.edu	37	chr1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacctgggtctatgaggGcacagtgtttttgagtgcca	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	196			G -> C (in dbSNP:rs4925788).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTATGAGGGCACAGTGTTT	0.473																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(586-588)gGc>gAc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							137	46	77					1																	248112746		2203	4289	6492	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112746G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.587G>A	1.37:g.248112746G>A	ENSP00000349719:p.Gly196Asp					OR2L13_ENST00000366478.2_Intron	p.G196D	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	587	+	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)		196		G -> C (in dbSNP:rs4925788).			Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.587G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	3.028	-0.200230	0.06219	.	.	ENSG00000196936	ENST00000357191	T	0.00091	8.74	1.21	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.581525	0.12962	U	0.424910	T	0.00039	0.0001	N	0.01640	-0.785	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.08310	-1.0728	10	0.35671	T	0.21	.	0.2585	0.00215	0.329:0.1455:0.2651:0.2604	.	196	Q8NGY9	OR2L8_HUMAN	D	196	ENSP00000349719:G196D	ENSP00000349719:G196D	G	+	2	0	OR2L8	246179369	0.000000	0.05858	0.701000	0.30321	0.651000	0.38670	-0.015000	0.12634	-0.726000	0.04895	0.479000	0.44913	GGC		0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			12	111	0	0	0	1	0	12	111					A	248112746	G	A	248112746	3	1	79	1	0	0	0	0	1	0	0	0	11051	1203	42	2	589	2	OR2L8	1	248112746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	248112746	1137875	2091	12408											
OR2AK2	391191	broad.mit.edu	37	chr1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgaagcccttctccttgGttttatgtcttatgatcgct	7	10	2	2	rs573037925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTCCTTGGTTTTATGTCT	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(391-393)gGt>gAt		olfactory receptor, family 2, subfamily AK, member 2							395	351	366					1																	248129025		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129025G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.392G>A	1.37:g.248129025G>A	ENSP00000355436:p.Gly131Asp					OR2L13_ENST00000366478.2_Intron	p.G131D	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	491	+	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)		131					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.392G>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801589	0.50315	.	.	ENSG00000187080	ENST00000366480	T	0.01347	4.99	3.03	-2.6	0.06190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04543	0.0124	M	0.77616	2.38	0.09310	N	1	D	0.64830	0.994	P	0.58210	0.835	T	0.19095	-1.0316	9	0.87932	D	0	.	5.9086	0.19014	0.1081:0.6127:0.1617:0.1175	.	131	Q8NG84	O2AK2_HUMAN	D	131	ENSP00000355436:G131D	ENSP00000355436:G131D	G	+	2	0	OR2AK2	246195648	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.134000	0.10436	-0.202000	0.10268	0.455000	0.32223	GGT		0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		346	1083	0	0	0	1	0	346	1083					A	248129025	G	A	248129025	3	1	79	1	0	0	0	0	1	0	0	0	11028	1261	44	2	394	2	OR2AK2	1	248129025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16279	248129025	1121596	2092	12409											
OR2L2	26246	broad.mit.edu	37	chr1	248202496	248202496	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgattcagaaaatcttctcAgtgaaaatgtagacatacgt	8	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAATCTTCTCAGTGAAAATGT	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(925-927)tcA>tcG		olfactory receptor, family 2, subfamily L, member 2							63	62	63					1																	248202496		2203	4299	6502	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202496A>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.927A>G	1.37:g.248202496A>G						OR2L13_ENST00000366478.2_Intron	p.S309S	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	1023	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		309					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.927A>G	CCDS31103.1																																																																																				0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		71	403	0	0	0	1	0	71	403					G	248202496	A	G	248202496	2	3	79	1	0	0	0	0	0	0	0	1	11049	175	7	4		4	OR2L2	1	248202496	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73471	248202496	1048125	2093	12410											
OR2L13	284521	broad.mit.edu	37	chr1	248263566	248263566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaggaataaggaagtcCtgggggctatgaggagagtg	18	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000358120.2	+	2	1034	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000366478.2_Silent_p.L297L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TAAGGAAGTCCTGGGGGCTAT	0.473																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(889-891)Ctg>Ttg		olfactory receptor, family 2, subfamily L, member 13							53	55	54					1																	248263566		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263566C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.889C>T	1.37:g.248263566C>T						OR2L13_ENST00000358120.2_Silent_p.L297L	p.L297L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1226	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		297					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.889C>T	CCDS1637.1																																																																																				0.473	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		11	334	0	0	0	1	0	11	334					T	248263566	C	T	248263566	2	4	79	1	0	0	0	0	0	0	0	1	11048	680	24	2		2	OR2L13	1	248263566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61070	248263566	987055	2094	12411											
OR2M5	127059	broad.mit.edu	37	chr1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttctgttggctgttatgtCttatgaccgctatattgcca	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(355-357)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							311	305	307					1																	248308805		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308805C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.356C>A	1.37:g.248308805C>A	ENSP00000355432:p.Ser119Tyr						p.S119Y	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119						Missense_Mutation	SNP	ENST00000366476.1	37	c.356C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805259	0.31961	.	.	ENSG00000162727	ENST00000366476	T	0.52754	0.65	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.68192	0.2974	H	0.94183	3.505	0.34401	D	0.695327	B	0.29188	0.236	B	0.41988	0.372	T	0.81239	-0.1023	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	Y	119	ENSP00000355432:S119Y	ENSP00000355432:S119Y	S	+	2	0	OR2M5	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		318	1683	1	0	1.32765e-60	1	1.67014e-60	318	1683					A	248308805	C	A	248308805	3	1	79	1	0	0	0	0	1	0	0	0	11055	913	32	3	358	3	OR2M5	1	248308805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45239	248308805	941816	2095	12412											
OR2M5	127059	broad.mit.edu	37	chr1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccttctcctactgtgggtCtcgggaaatagcccacttct	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TACTGTGGGTCTCGGGAAATA	0.438																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(511-513)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							282	266	271					1																	248308961		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308961C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.512C>A	1.37:g.248308961C>A	ENSP00000355432:p.Ser171Tyr						p.S171Y	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	512	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171						Missense_Mutation	SNP	ENST00000366476.1	37	c.512C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	19.29	3.799247	0.70567	.	.	ENSG00000162727	ENST00000366476	T	0.38722	1.12	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.879412	0.09254	U	0.827497	T	0.69160	0.3080	M	0.92691	3.335	0.09310	N	1	D	0.53312	0.959	P	0.62649	0.905	T	0.55134	-0.8188	10	0.87932	D	0	.	10.0254	0.42068	0.0:0.8936:0.0:0.1064	.	171	A3KFT3	OR2M5_HUMAN	Y	171	ENSP00000355432:S171Y	ENSP00000355432:S171Y	S	+	2	0	OR2M5	246375584	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	1.011000	0.29911	0.476000	0.27440	0.492000	0.49549	TCT		0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		241	1529	1	0	7.79638e-53	1	9.70434e-53	241	1529					A	248308961	C	A	248308961	3	1	79	1	0	0	0	0	1	0	0	0	11055	913	32	3	514	3	OR2M5	1	248308961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	248308961	941660	2096	12413											
OR2T33	391195	broad.mit.edu	37	chr1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatctgcacaccacagccaGcgcgggagatggccttactt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(277-279)gCt>gAt		olfactory receptor, family 2, subfamily T, member 33							74	67	69					1																	248436839		2203	4297	6500	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436839G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.278C>A	1.37:g.248436839G>T	ENSP00000324687:p.Ala93Asp						p.A93D	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	299	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.278C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.307644	0.23821	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00666	0.0022	M	0.70275	2.135	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.46992	-0.9151	10	0.56958	D	0.05	.	10.2203	0.43192	0.0:0.0:0.8002:0.1997	.	93	Q8NG76	O2T33_HUMAN	D	93	ENSP00000324687:A93D	ENSP00000324687:A93D	A	-	2	0	OR2T33	246503462	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.134000	0.10436	1.437000	0.47472	0.494000	0.49563	GCT		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		51	1040	1	0	7.22619e-39	1	8.72213e-39	51	1040					T	248436839	G	T	248436839	3	4	79	1	0	0	0	0	1	0	0	0	11066	971	34	3	687	3	OR2T33	1	248436839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127878	248436839	813782	2097	12414											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg					rs372045862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45	47	46					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	663						7	663	---	---	---	---	-	248437112	T	-	248437112	7	5	79	1	0	1	0	1	0	0	0	0	11066	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	273	248437112	813509	2098	12415											
OR2T12	127064	broad.mit.edu	37	chr1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgagggaaaaggggAccaggagcattaacacacag	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(619-621)gTc>gCc		olfactory receptor, family 2, subfamily T, member 12							46	40	42					1																	248458261		2202	4282	6484	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458261A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.620T>C	1.37:g.248458261A>G	ENSP00000324583:p.Val207Ala						p.V207A	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	619	-	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)		207						Missense_Mutation	SNP	ENST00000317996.1	37	c.620T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	9.021	0.984884	0.18889	.	.	ENSG00000177201	ENST00000317996	T	0.39229	1.09	1.55	0.167	0.15006	GPCR, rhodopsin-like superfamily (1);	1.119980	0.07080	U	0.836949	T	0.28267	0.0698	N	0.17723	0.515	0.09310	N	1	B	0.23806	0.091	B	0.30716	0.119	T	0.40156	-0.9578	10	0.62326	D	0.03	.	4.0928	0.09976	0.5564:0.283:0.1606:0.0	.	207	Q8NG77	O2T12_HUMAN	A	207	ENSP00000324583:V207A	ENSP00000324583:V207A	V	-	2	0	OR2T12	246524884	0.000000	0.05858	0.021000	0.16686	0.193000	0.23685	-0.036000	0.12185	0.540000	0.28808	0.147000	0.16070	GTC		0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		134	373	0	0	0	1	0	134	373					G	248458261	A	G	248458261	3	3	79	1	0	0	0	0	1	0	0	0	11061	275	10	4	345	4	OR2T12	1	248458261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21149	248458261	792360	2099	12416											
OR14C36	127066	broad.mit.edu	37	chr1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgtgatcgtgaactctCgaatctgcatccagatgaca	8	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(409-411)Cga>Tga		olfactory receptor, family 14, subfamily C, member 36							99	86	91					1																	248512485		2203	4300	6503	SO:0001587	stop_gained	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512485C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.409C>T	1.37:g.248512485C>T	ENSP00000324534:p.Arg137*						p.R137*	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	409	+			137					Q6IEZ6	Nonsense_Mutation	SNP	ENST00000317861.1	37	c.409C>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430346	0.62844	.	.	ENSG00000177174	ENST00000317861	.	.	.	4.05	1.93	0.25924	.	1.246200	0.06113	N	0.667560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2541	0.49043	0.4719:0.5281:0.0:0.0	.	.	.	.	X	137	.	ENSP00000324534:R137X	R	+	1	2	OR14C36	246579108	0.000000	0.05858	0.001000	0.08648	0.715000	0.41141	-0.209000	0.09358	0.879000	0.35944	0.395000	0.25975	CGA		0.507	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		81	253	0	0	0	1	0	81	253					T	248512485	C	T	248512485	4	4	79	1	0	0	0	0	0	1	0	0	10988	876	31	1	411	1	OR14C36	1	248512485	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54224	248512485	738136	2100	12417											
OR2T4	127074	broad.mit.edu	37	chr1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataaggatgtcatgggggCtctgaagaaaatgttaacag	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GTCATGGGGGCTCTGAAGAAA	0.408																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(994-996)gCt>gAt		olfactory receptor, family 2, subfamily T, member 4							108	114	112					1																	248525877		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525877C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.995C>A	1.37:g.248525877C>A	ENSP00000355431:p.Ala332Asp						p.A332D	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	995	+	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)		332					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.995C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087079	0.36855	.	.	ENSG00000196944	ENST00000366475	T	0.46063	0.88	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	M	0.89534	3.04	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.55768	-0.8089	10	0.87932	D	0	.	7.8187	0.29276	0.1828:0.6396:0.1776:0.0	.	332	Q8NH00	OR2T4_HUMAN	D	332	ENSP00000355431:A332D	ENSP00000355431:A332D	A	+	2	0	OR2T4	246592500	0.002000	0.14202	0.502000	0.27614	0.981000	0.71138	1.341000	0.33907	0.436000	0.26393	0.585000	0.79938	GCT		0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		130	705	1	0	9.19936e-45	1	1.12636e-44	130	705					A	248525877	C	A	248525877	3	1	79	1	0	0	0	0	1	0	0	0	11069	797	28	3	997	3	OR2T4	1	248525877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13392	248525877	724744	2101	12418											
OR2T3	343173	broad.mit.edu	37	chr1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgttcttctacctgaccCtggctggagctgaggttttc	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTGACCCTGGCTGGAGC	0.552																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(334-336)Ctg>Atg		olfactory receptor, family 2, subfamily T, member 3							129	117	121					1																	248636985		2194	4298	6492	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636985C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.334C>A	1.37:g.248636985C>A	ENSP00000352604:p.Leu112Met						p.L112M	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	359	+	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)		112					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.334C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457406	0.43634	.	.	ENSG00000196539	ENST00000359594	T	0.02525	4.26	2.22	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01316	-1.1387	9	0.54805	T	0.06	.	4.5458	0.12079	0.5484:0.258:0.0:0.1936	.	112	Q8NH03	OR2T3_HUMAN	M	112	ENSP00000352604:L112M	ENSP00000352604:L112M	L	+	1	2	OR2T3	246703608	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-5.284000	0.00135	-1.852000	0.01166	0.186000	0.17326	CTG		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		63	378	1	0	1.72039e-30	1	2.01868e-30	63	378					A	248636985	C	A	248636985	3	1	79	1	0	0	0	0	1	0	0	0	11065	680	24	3	336	3	OR2T3	1	248636985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111108	248636985	613636	2102	12419											
OR2G6	391211	broad.mit.edu	37	chr1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctctggccggtggaGcatggctcagcggcctcatc	15	13	3	0	rs138151830	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.A148T(1)	lung(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(442-444)Gca>Aca		olfactory receptor, family 2, subfamily G, member 6							71	56	61					1																	248685389		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685389G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.442G>A	1.37:g.248685389G>A	ENSP00000341291:p.Ala148Thr						p.A148T	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	474	+	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)	all_cancers(173;0.0156)	148					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.442G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	OR2G6	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA		0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		77	212	0	0	0	1	0	77	212					A	248685389	G	A	248685389	3	1	79	1	0	0	0	0	1	0	0	0	11042	971	34	2	444	2	OR2G6	1	248685389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48404	248685389	565232	2103	12420											
OR2T11	127077	broad.mit.edu	37	chr1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaagacacttcttgCggttcatcaggactgggtat	10	10	3	1	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACACTTCTTGCGGTTCATCAG	0.547																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(403-405)cGc>cAc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)		C	HIS/ARG	0,4104		0,0,2052	47	55	52		404	-5.7	0	1	dbSNP_134	52	1,8463		0,1,4231	no	missense	OR2T11	NM_001001964.1	29	0,1,6283	TT,TC,CC		0.0118,0.0,0.0080	benign	135/317	248790026	1,12567	2052	4232	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790026C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.404G>A	1.37:g.248790026C>T	ENSP00000328934:p.Arg135His						p.R135H	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	465	-	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)		135					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.404G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	OR2T11	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		75	343	0	0	0	1	0	75	343					T	248790026	C	T	248790026	3	4	79	1	0	0	0	0	1	0	0	0	11060	768	27	1	550	1	OR2T11	1	248790026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104637	248790026	460595	2104	12421											
SH3BP5L	80851	broad.mit.edu	37	chr1	249108782	249108782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggcccgctcgtaccgcaGcgctgccttctgtgtctcct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000411742.2_Silent_p.L103L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	135										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(403-405)Ctg>Ttg		SH3-binding domain protein 5-like							90	71	78					1																	249108782		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249108782G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.403C>T	1.37:g.249108782G>A						SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	p.L135L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		5	1632	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	135					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.403C>T	CCDS31126.1																																																																																				0.607	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		19	269	0	0	0	1	0	19	269					A	249108782	G	A	249108782	2	1	79	1	0	0	0	0	0	0	0	1	14298	962	34	2		2	SH3BP5L	1	249108782	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318756	249108782	141839	2105	12422											
ZNF672	79894	broad.mit.edu	37	chr1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccccacgcgaccccgtgTctcagacgcccaccagtgtg	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGACCCCGTGTCTCAGACGCC	0.697																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(583-585)gTc>gCc		zinc finger protein 672							9	10	9					1																	249142057		2198	4289	6487	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142057T>C	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.584T>C	1.37:g.249142057T>C	ENSP00000421915:p.Val195Ala						p.V195A	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1330	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	195					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.584T>C	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285914	0.01387	.	.	ENSG00000171161	ENST00000306562	T	0.06933	3.24	2.62	0.449	0.16619	.	1.677950	0.04259	N	0.340137	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	.	.	.	.	2.3387	0.04254	0.208:0.4964:0.1752:0.1205	.	195	Q499Z4	ZN672_HUMAN	A	195	ENSP00000421915:V195A	.	V	+	2	0	ZNF672	247108680	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.153000	0.11137	-1.096000	0.02151	GTC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		13	51	0	0	0	1	0	13	51					C	249142057	T	C	249142057	3	2	79	1	0	0	0	0	1	0	0	0	18132	1667	58	4	586	4	ZNF672	1	249142057	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33275	249142057	108564	2106	12423											
ZNF672	79894	broad.mit.edu	37	chr1	249142226	249142226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgcacacacacgggCgagaagccgtacgcatgtgg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	ENST00000306562.3	+	4	1499	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACACGGGCGAGAAGCCGT	0.672																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(751-753)ggC>ggT		zinc finger protein 672							8	7	7					1																	249142226		2163	4206	6369	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142226C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.753C>T	1.37:g.249142226C>T							p.G251G	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1499	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	251					Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.753C>T	CCDS1638.1																																																																																				0.672	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		6	30	0	0	0	1	0	6	30					T	249142226	C	T	249142226	2	4	79	1	0	0	0	0	0	0	0	1	18132	755	27	1		1	ZNF672	1	249142226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	249142226	108395	2107	12424											
ZNF692	55657	broad.mit.edu	37	chr1	249151671	249151671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagcaccagatactgcagAccttttggaggcaaaggctc	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000306601.4	-	4	403	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000451251.1_Silent_p.G84G|ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366469.5_Silent_p.G79G	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GATACTGCAGACCTTTTGGAG	0.632																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(250-252)ggT>ggC		zinc finger protein 692							37	42	41					1																	249151671		2203	4300	6503	SO:0001819	synonymous_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151671A>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.237T>C	1.37:g.249151671A>G						ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000306601.4_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR	p.G84G	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	597	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	79					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.252T>C	CCDS31127.1																																																																																				0.632	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		11	413	0	0	0	1	0	11	413					G	249151671	A	G	249151671	2	3	79	1	0	0	0	0	0	0	0	1	18150	262	10	4		4	ZNF692	1	249151671	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9445	249151671	98950	2108	12425											
PGBD2	267002	broad.mit.edu	37	chr1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgaggctgaccagtcGtcactctggagcagctaaaa	12	11	2	2	rs372043364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000329291.5	+	3	1454	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000355360.4_Missense_Mutation_p.R185H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(553-555)cGt>cAt		piggyBac transposable element derived 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	74	79		1307,554	1.5	0	1		79	0,8600		0,0,4300	no	missense,missense	PGBD2	NM_170725.2,NM_001017434.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	436/593,185/342	249212090	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr1:249212090G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1307G>A	1.37:g.249212090G>A	ENSP00000331643:p.Arg436His					PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000329291.5_Missense_Mutation_p.R436H	p.R185H	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	824	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	436					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.554G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451934	0.01080	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.20200	2.09;2.09;2.09	3.58	1.47	0.22746	.	0.477093	0.15029	N	0.284560	T	0.18759	0.0450	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.23797	-1.0178	10	0.27785	T	0.31	-5.3232	6.2778	0.20991	0.223:0.0:0.777:0.0	.	433;436	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	185;436;433	ENSP00000355424:R185H;ENSP00000331643:R436H;ENSP00000439950:R433H	ENSP00000331643:R436H	R	+	2	0	PGBD2	247178713	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.181000	0.16880	0.217000	0.20800	0.467000	0.42956	CGT		0.552	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			27	231	0	0	0	1	0	27	231					A	249212090	G	A	249212090	3	1	79	1	0	0	0	0	1	0	0	0	11823	1145	40	1	1313	1	PGBD2	1	249212090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60419	249212090	38531	2109	12426											
SNTG2	54221	broad.mit.edu	37	chr2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaatgctgctctccttccGaccaggtagggtttgtattt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	295					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCTCCTTCCGACCAGGTAGG	0.473																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(883-885)Gac>Aac		syntrophin, gamma 2							170	161	164					2																	1243543		2076	4217	6293	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1243543G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.883G>A	2.37:g.1243543G>A	ENSP00000311837:p.Asp295Asn					SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	p.D295N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	11	1012	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	295					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.883G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988159	0.35036	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.6;-0.37	4.77	4.77	0.60923	.	0.106304	0.64402	D	0.000007	T	0.66117	0.2757	M	0.70595	2.14	0.58432	D	0.999992	B;B	0.28667	0.219;0.14	B;B	0.23716	0.048;0.009	T	0.67047	-0.5769	10	0.42905	T	0.14	.	16.9182	0.86157	0.0:0.0:1.0:0.0	.	168;295	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	295;168	ENSP00000311837:D295N;ENSP00000385020:D168N	ENSP00000311837:D295N	D	+	1	0	SNTG2	1226094	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	3.705000	0.54823	2.338000	0.79540	0.655000	0.94253	GAC		0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		18	93	0	0	0	1	0	18	93					A	1243543	G	A	1243543	3	1	79	1	0	0	0	0	1	0	0	0	14925	1058	37	1	925	1	SNTG2	2	1243543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		1243543	241955830	2110	12427											
TPO	7173	broad.mit.edu	37	chr2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggcttcagtcagcccCgaggctggaaccccggcttc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	189					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGTCAGCCCCGAGGCTGGAA	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(565-567)Cga>Tga		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						50	55	53					2																	1457548		2203	4300	6503	SO:0001587	stop_gained	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457548C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.565C>T	2.37:g.1457548C>T	ENSP00000318820:p.Arg189*					TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*	p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	656	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	189					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	ENST00000345913.4	37	c.565C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537771	0.65085	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-4.71	0.03279	.	0.293852	0.35970	N	0.002873	.	.	.	.	.	.	0.42641	D	0.993417	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.4783	20.418	0.99029	0.2731:0.7269:0.0:0.0	.	.	.	.	X	189;189;189;189;189;189;189;118	.	ENSP00000329869:R189X	R	+	1	2	TPO	1436555	0.006000	0.16342	0.087000	0.20705	0.615000	0.37417	1.309000	0.33539	-1.228000	0.02568	-0.474000	0.04947	CGA		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		117	364	0	0	0	1	0	117	364					T	1457548	C	T	1457548	4	4	79	1	0	0	0	0	0	1	0	0	16463	644	23	1	583	1	TPO	2	1457548	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214005	1457548	241741825	2111	12428											
TPO	7173	broad.mit.edu	37	chr2	1459850	1459850	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctcttcctacccaggtCcgggaggtgacaagacatgt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTACCCAGGTCCGGGAGGTGA	0.498																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(613-615)gtC>gtT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						84	62	70					2																	1459850		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459850C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.615C>T	2.37:g.1459850C>T						TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V	p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	706	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	205					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.615C>T	CCDS1643.1																																																																																				0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		42	113	0	0	0	1	0	42	113					T	1459850	C	T	1459850	2	4	79	1	0	0	0	0	0	0	0	1	16463	842	30	2		2	TPO	2	1459850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302	1459850	241739523	2112	12429											
TPO	7173	broad.mit.edu	37	chr2	1497599	1497599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtggagggagttctgCggcctgcctcgcctggagac	16	10	1	2	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000337415.3_Silent_p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	598					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGTTCTGCGGCCTGCCTC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1792-1794)tgC>tgT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	,,,,,	22,4384	29.9+/-59.1	1,20,2182	51	47	49		1794,1794,1623,1623,1794,1275	-6.8	0	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	1,20,6482	TT,TC,CC		0.0,0.4993,0.1692	,,,,,	598/934,598/934,541/877,541/877,598/890,425/761	1497599	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497599C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1794C>T	2.37:g.1497599C>T						TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C	p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1885	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	598					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1794C>T	CCDS1643.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.275	-0.990244	0.02162	0.004993	0.0	ENSG00000115705	ENST00000446278	.	.	.	4.84	-6.83	0.01693	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-32.4367	16.0715	0.80940	0.0:0.2598:0.0:0.7402	.	.	.	.	V	73	.	.	A	+	2	0	TPO	1476606	0.956000	0.32656	0.002000	0.10522	0.008000	0.06430	0.013000	0.13310	-1.368000	0.02149	-1.300000	0.01332	GCG		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	173	0	0	0	1	0	12	173					T	1497599	C	T	1497599	2	4	79	1	0	0	0	0	0	0	0	1	16463	776	27	1		1	TPO	2	1497599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37749	1497599	241701774	2113	12430											
PXDN	7837	broad.mit.edu	37	chr2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccggggagaacaccccagGgttctcataccacaacctgg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1254					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACACCCCAGGGTTCTCATAC	0.567																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3760-3762)Cct>Act		peroxidasin homolog (Drosophila)							48	52	51					2																	1647332		1968	4149	6117	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1647332G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3760C>A	2.37:g.1647332G>T	ENSP00000252804:p.Pro1254Thr						p.P1254T	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	19	3810	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1254					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3760C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093020	0.76756	.	.	ENSG00000130508	ENST00000252804	T	0.75260	-0.92	5.41	5.41	0.78517	.	0.202308	0.43110	D	0.000611	D	0.86855	0.6033	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.87931	0.2710	10	0.62326	D	0.03	-19.6271	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1254	Q92626	PXDN_HUMAN	T	1254	ENSP00000252804:P1254T	ENSP00000252804:P1254T	P	-	1	0	PXDN	1626339	1.000000	0.71417	0.991000	0.47740	0.472000	0.32918	7.737000	0.84957	2.525000	0.85131	0.563000	0.77884	CCT		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		14	368	1	0	1.05317e-09	1	1.11087e-09	14	368					T	1647332	G	T	1647332	3	4	79	1	0	0	0	0	1	0	0	0	12897	1232	43	3	699	3	PXDN	2	1647332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149733	1647332	241552041	2114	12431											
PXDN	7837	broad.mit.edu	37	chr2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtttctcccggatcTcagggtttttaatctcattt	6	9	4	0	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCCCGGATCTCAGGGTTTTT	0.527																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3586-3588)gAg>gCg		peroxidasin homolog (Drosophila)							109	119	116					2																	1651965		1977	4154	6131	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651965T>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3587A>C	2.37:g.1651965T>G	ENSP00000252804:p.Glu1196Ala						p.E1196A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3637	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1196					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3587A>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	8.883	0.952195	0.18431	.	.	ENSG00000130508	ENST00000252804	T	0.74632	-0.86	5.48	2.98	0.34508	.	0.670381	0.15817	N	0.243172	T	0.67618	0.2912	L	0.48877	1.53	0.20563	N	0.999887	B	0.19445	0.036	B	0.32928	0.155	T	0.55503	-0.8131	10	0.26408	T	0.33	-25.6379	8.3858	0.32499	0.1346:0.0:0.1331:0.7322	.	1196	Q92626	PXDN_HUMAN	A	1196	ENSP00000252804:E1196A	ENSP00000252804:E1196A	E	-	2	0	PXDN	1630972	0.002000	0.14202	0.851000	0.33527	0.976000	0.68499	0.660000	0.25009	0.332000	0.23536	0.529000	0.55759	GAG		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		153	887	0	0	0	1	0	153	887					G	1651965	T	G	1651965	3	3	79	1	0	0	0	0	1	0	0	0	12897	1551	54	4	880	4	PXDN	2	1651965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4633	1651965	241547408	2115	12432											
PXDN	7837	broad.mit.edu	37	chr2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggatgttgatggccGccaggtccagagccaccgtg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1155					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGATGGCCGCCAGGTCCAG	0.642																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3463-3465)gCg>gTg		peroxidasin homolog (Drosophila)							62	74	70					2																	1652088		2056	4219	6275	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652088G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3464C>T	2.37:g.1652088G>A	ENSP00000252804:p.Ala1155Val						p.A1155V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3514	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1155					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3464C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030543	0.93575	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81395	-0.0952	10	0.45353	T	0.12	-31.4364	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1155	Q92626	PXDN_HUMAN	V	1155	ENSP00000252804:A1155V	ENSP00000252804:A1155V	A	-	2	0	PXDN	1631095	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.759000	0.98931	2.645000	0.89757	0.650000	0.86243	GCG		0.642	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		46	598	0	0	0	1	0	46	598					A	1652088	G	A	1652088	3	1	79	1	0	0	0	0	1	0	0	0	12897	1087	38	1	1003	1	PXDN	2	1652088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123	1652088	241547285	2116	12433											
PXDN	7837	broad.mit.edu	37	chr2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccgtcggagaagcgtGcctggctcagggccaccacc	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	839					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAGAAGCGTGCCTGGCTCAG	0.652																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2515-2517)gCa>gTa		peroxidasin homolog (Drosophila)							39	42	41					2																	1653036		2196	4284	6480	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653036G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2516C>T	2.37:g.1653036G>A	ENSP00000252804:p.Ala839Val						p.A839V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2566	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	839					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2516C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351801	0.61183	.	.	ENSG00000130508	ENST00000252804	T	0.61392	0.11	5.18	4.28	0.50868	.	0.128490	0.53938	D	0.000048	T	0.51075	0.1653	L	0.41027	1.25	0.53005	D	0.999967	B	0.19445	0.036	B	0.31614	0.133	T	0.42361	-0.9456	10	0.18276	T	0.48	-36.1755	15.2212	0.73313	0.0:0.0:0.8581:0.1419	.	839	Q92626	PXDN_HUMAN	V	839	ENSP00000252804:A839V	ENSP00000252804:A839V	A	-	2	0	PXDN	1632043	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.797000	0.85911	1.276000	0.44395	0.558000	0.71614	GCA		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		43	122	0	0	0	1	0	43	122					A	1653036	G	A	1653036	3	1	79	1	0	0	0	0	1	0	0	0	12897	1319	46	2	1951	2	PXDN	2	1653036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948	1653036	241546337	2117	12434											
PXDN	7837	broad.mit.edu	37	chr2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgaccttctgggagcCgatgatgttgacagcctggc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	509	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTGGGAGCCGATGATGTTG	0.567																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1525-1527)Ggc>Tgc		peroxidasin homolog (Drosophila)							89	96	93					2																	1667419		2032	4168	6200	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667419C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1525G>T	2.37:g.1667419C>A	ENSP00000252804:p.Gly509Cys						p.G509C	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1575	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	509			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1525G>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012209	0.93346	.	.	ENSG00000130508	ENST00000252804	T	0.50813	0.73	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111519	0.64402	D	0.000009	D	0.83949	0.5365	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90698	0.4618	10	0.87932	D	0	-55.7987	20.0263	0.97523	0.0:1.0:0.0:0.0	.	509;509	Q92626-2;Q92626	.;PXDN_HUMAN	C	509	ENSP00000252804:G509C	ENSP00000252804:G509C	G	-	1	0	PXDN	1646426	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.552000	0.82192	2.735000	0.93741	0.655000	0.94253	GGC		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		89	506	1	0	5.5301e-39	1	6.67972e-39	89	506					A	1667419	C	A	1667419	3	1	79	1	0	0	0	0	1	0	0	0	12897	652	23	3	2962	3	PXDN	2	1667419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14383	1667419	241531954	2118	12435											
PXDN	7837	broad.mit.edu	37	chr2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgtcttcacctctccgGccacgttctttgccatgcac	7	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACCTCTCCGGCCACGTTCTT	0.557																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(967-969)gCc>gTc		peroxidasin homolog (Drosophila)							185	189	188					2																	1677465		2098	4229	6327	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677465G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.968C>T	2.37:g.1677465G>A	ENSP00000252804:p.Ala323Val					PXDN_ENST00000483018.1_5'UTR	p.A323V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	1018	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	323			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.968C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828350|1.828350	0.32329|0.32329	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50069|0.50069	0.1594|0.1594	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.30664|.	0.095;0.289|.	B;B|.	0.40940|.	0.075;0.344|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.33141|.	T|.	0.24|.	-21.0506|-21.0506	17.7383|17.7383	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;323|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	323|319	ENSP00000252804:A323V|.	ENSP00000252804:A323V|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1656472|1656472	1.000000|1.000000	0.71417|0.71417	0.529000|0.529000	0.27951|0.27951	0.970000|0.970000	0.65996|0.65996	9.691000|9.691000	0.98679|0.98679	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		203	642	0	0	0	1	0	203	642					A	1677465	G	A	1677465	3	1	79	1	0	0	0	0	1	0	0	0	12897	1203	42	2	3531	2	PXDN	2	1677465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10046	1677465	241521908	2119	12436											
PXDN	7837	broad.mit.edu	37	chr2	1680761	1680761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcaggtgaagtacacGgtgttccccgaggtcacatc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAAGTACACGGTGTTCCCCG	0.547																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(784-786)acC>acT		peroxidasin homolog (Drosophila)							65	73	70					2																	1680761		1993	4173	6166	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1680761G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.786C>T	2.37:g.1680761G>A							p.T262T	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	8	836	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	262			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.786C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT		0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		13	78	0	0	0	1	0	13	78					A	1680761	G	A	1680761	2	1	79	1	0	0	0	0	0	0	0	1	12897	1103	39	1		1	PXDN	2	1680761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3296	1680761	241518612	2120	12437											
PXDN	7837	broad.mit.edu	37	chr2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagtgattaaatgtccCtggaactaaatgtgtaatcc	7	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	176					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTAAATGTCCCTGGAACTAAA	0.308																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(526-528)Ggg>Tgg		peroxidasin homolog (Drosophila)							45	46	46					2																	1687462		1795	4061	5856	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1687462C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.526G>T	2.37:g.1687462C>A	ENSP00000252804:p.Gly176Trp						p.G176W	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	6	576	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	176					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.526G>T	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.82|18.82|18.82	3.706140|3.706140|3.706140	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.55413|.|.	0.52;0.92|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	0.057139|.|.	0.64402|.|.	D|.|.	0.000001|.|.	D|D|D	0.83792|0.83792|0.83792	0.5331|0.5331|0.5331	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.999;1.0|.|.	D|D|D	0.85695|0.85695|0.85695	0.1309|0.1309|0.1309	10|5|5	0.87932|.|.	D|.|.	0|.|.	-32.4813|-32.4813|-32.4813	19.2505|19.2505|19.2505	0.93923|0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	176;176|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	W|H|M	176;152|171|99	ENSP00000252804:G176W;ENSP00000398363:G152W|.|.	ENSP00000252804:G176W|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666469|1666469|1666469	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.428000|0.428000|0.428000	0.26697|0.26697|0.26697	0.491000|0.491000|0.491000	0.33493|0.33493|0.33493	7.505000|7.505000|7.505000	0.81655|0.81655|0.81655	2.542000|2.542000|2.542000	0.85734|0.85734|0.85734	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG		0.308	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	51	1	0	5.50884e-06	1	5.65664e-06	11	51					A	1687462	C	A	1687462	3	1	79	1	0	0	0	0	1	0	0	0	12897	681	24	3	3985	3	PXDN	2	1687462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6701	1687462	241511911	2121	12438											
MYT1L	23040	broad.mit.edu	37	chr2	1796203	1796203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcactttgttctcctcttCgatggtcttcaggttgctct	7	11	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1796203C>T	ENST00000399161.2	-	24	4057	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K|MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1104					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTCCTCTTCGATGGTCTTC	0.552																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3310-3312)Gaa>Aaa		myelin transcription factor 1-like							130	129	129					2																	1796203		2071	4221	6292	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1796203C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3310G>A	2.37:g.1796203C>T	ENSP00000382114:p.Glu1104Lys					MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K	p.E1104K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	24	4057	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1104					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3310G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.553889	0.96501	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.56611	0.45;1.98;0.45	5.5	5.5	0.81552	.	0.044994	0.85682	D	0.000000	T	0.68952	0.3057	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.972;0.997;0.998	B;P;P	0.57548	0.367;0.67;0.823	T	0.70828	-0.4766	10	0.54805	T	0.06	-36.3414	19.3812	0.94536	0.0:1.0:0.0:0.0	.	102;1104;1102	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	K	1104;1050;102;158;1102	ENSP00000382114:E1104K;ENSP00000382111:E158K;ENSP00000396103:E1102K	ENSP00000295067:E1050K	E	-	1	0	MYT1L	1775210	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.977000	0.70492	2.572000	0.86782	0.655000	0.94253	GAA		0.552	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	128	0	0	0	1	0	5	128					T	1796203	C	T	1796203	3	4	79	1	0	0	0	0	1	0	0	0	10148	893	31	1	258	1	MYT1L	2	1796203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108741	1796203	241403170	2122	12439											
MYT1L	23040	broad.mit.edu	37	chr2	1893190	1893190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagctgtcccgcggCctctgcttgttcatgctgag	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	781					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCCGCGGCCTCTGCTTGT	0.617																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2341-2343)agG>agA		myelin transcription factor 1-like							58	61	60					2																	1893190		2046	4187	6233	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893190C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2343G>A	2.37:g.1893190C>T						MYT1L_ENST00000428368.2_Silent_p.R779R	p.R781R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3090	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	781					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2343G>A																																																																																					0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		66	310	0	0	0	1	0	66	310					T	1893190	C	T	1893190	2	4	79	1	0	0	0	0	0	0	0	1	10148	738	26	2		2	MYT1L	2	1893190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96987	1893190	241306183	2123	12440											
MYT1L	23040	broad.mit.edu	37	chr2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcactgattcctcaaacactCcagactgctcagacacacct	5	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(982-984)Gag>Tag		myelin transcription factor 1-like							88	94	92					2																	1926559		2148	4253	6401	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926559C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.982G>T	2.37:g.1926559C>A	ENSP00000382114:p.Glu328*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1729	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	328					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.982G>T		.	.	.	.	.	.	.	.	.	.	C	44	10.777064	0.99466	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	4.88	0.63580	.	0.056711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.0681	14.6267	0.68626	0.0:0.9303:0.0:0.0697	.	.	.	.	X	328;276;328	.	ENSP00000295067:E276X	E	-	1	0	MYT1L	1905566	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	7.685000	0.84117	1.442000	0.47568	0.655000	0.94253	GAG		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		115	323	1	0	9.16818e-52	1	1.13871e-51	115	323					A	1926559	C	A	1926559	4	1	79	1	0	0	0	0	0	1	0	0	10148	864	30	3	2636	3	MYT1L	2	1926559	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33369	1926559	241272814	2124	12441											
MYT1L	23040	broad.mit.edu	37	chr2	1926671	1926671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttctactgtcttgctgCgacatgctgtctgcataatt	7	9	3	0	rs369668763		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	290					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCTTGCTGCGACATGCTGT	0.453																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(868-870)tcG>tcA		myelin transcription factor 1-like		C		2,4142		0,2,2070	195	196	196		870	-12.1	0	2		196	1,8439		0,1,4219	no	coding-synonymous	MYT1L	NM_015025.2		0,3,6289	TT,TC,CC		0.0118,0.0483,0.0238		290/1185	1926671	3,12581	2072	4220	6292	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926671C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.870G>A	2.37:g.1926671C>T						MYT1L_ENST00000428368.2_Silent_p.S290S	p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1617	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	290					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.870G>A																																																																																					0.453	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		136	870	0	0	0	1	0	136	870					T	1926671	C	T	1926671	2	4	79	1	0	0	0	0	0	0	0	1	10148	755	27	1		1	MYT1L	2	1926671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	1926671	241272702	2125	12442											
TSSC1	7260	broad.mit.edu	37	chr2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttacttctcttcagaaCggtggtcctcctggtcactg	9	14	3	1	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000382125.4	-	8	1169	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TSSC1_ENST00000398659.4_Missense_Mutation_p.R353H|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562													C|||	3	0.000599042	0.0	0.0	5008	,	,		21099	0.0		0.0	False		,,,				2504	0.0031				Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(1057-1059)cGt>cAt		tumor suppressing subtransferable candidate 1		C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	144	110	122		977	0.8	0	2	dbSNP_134	122	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TSSC1	NM_003310.2	29	0,9,6493	TT,TC,CC		0.0814,0.0454,0.0692	benign	326/388	3196197	9,12995	2202	4300	6502	SO:0001583	missense	7260						protein binding	g.chr2:3196197C>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.977G>A	2.37:g.3196197C>T	ENSP00000371559:p.Arg326His					TSSC1_ENST00000382125.4_Missense_Mutation_p.R326H|TSSC1_ENST00000478754.1_5'UTR	p.R353H			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1198	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	326					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.1058G>A	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439519	0.04636	4.54E-4	8.14E-4	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.83673	-1.69;-1.75;-1.22	5.55	0.785	0.18584	WD40/YVTN repeat-like-containing domain (1);	0.480333	0.26773	N	0.022580	T	0.49813	0.1579	N	0.00926	-1.1	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	-0.7685	1.0524	0.01582	0.165:0.3348:0.1688:0.3314	.	326	Q53HC9	TSSC1_HUMAN	H	326;353;175	ENSP00000371559:R326H;ENSP00000381652:R353H;ENSP00000393350:R175H	ENSP00000371559:R326H	R	-	2	0	TSSC1	3175204	0.737000	0.28175	0.020000	0.16555	0.346000	0.29079	1.064000	0.30579	-0.083000	0.12618	-0.471000	0.05019	CGT		0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		32	149	0	0	0	1	0	32	149					T	3196197	C	T	3196197	3	4	79	1	0	0	0	0	1	0	0	0	16719	536	19	1	194	1	TSSC1	2	3196197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269526	3196197	240003176	2126	12443											
TSSC1	7260	broad.mit.edu	37	chr2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgcaaaatcctaccaggCcatgttgccatgggctgtgt	10	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000382125.4	-	4	604	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	TSSC1_ENST00000398659.4_Missense_Mutation_p.A165S|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(493-495)Gcc>Tcc		tumor suppressing subtransferable candidate 1							89	80	83					2																	3261074		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3261074C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.412G>T	2.37:g.3261074C>A	ENSP00000371559:p.Ala138Ser					TSSC1_ENST00000382125.4_Missense_Mutation_p.A138S|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR	p.A165S			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	5	633	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	138					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.493G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441202	0.43326	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.12774	2.65;2.65;2.65	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28115	0.83	0.80722	D	1	B	0.28258	0.205	B	0.20955	0.032	T	0.09357	-1.0678	10	0.06891	T	0.86	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	S	138;165;138	ENSP00000371559:A138S;ENSP00000381652:A165S;ENSP00000389080:A138S	ENSP00000371559:A138S	A	-	1	0	TSSC1	3240081	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	GCC		0.557	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		51	208	1	0	1.46357e-32	1	1.7291e-32	51	208					A	3261074	C	A	3261074	3	1	79	1	0	0	0	0	1	0	0	0	16719	739	26	3	775	3	TSSC1	2	3261074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64877	3261074	239938299	2127	12444											
COLEC11	78989	broad.mit.edu	37	chr2	3660908	3660908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttccacaggggatgcGggagagaagggagacaaagg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000349077.4	+	3	241	c.138G>A	c.(136-138)gcG>gcA	p.A46A	COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000236693.7_Missense_Mutation_p.R17Q|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000418971.2_Silent_p.A60A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	46					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGGGGATGCGGGAGAGAAGG	0.597																																						ENST00000236693.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(49-51)cGg>cAg		collectin sub-family member 11							28	30	30					2																	3660908		2192	4298	6490	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3660908G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.138G>A	2.37:g.3660908G>A						COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000349077.4_Silent_p.A46A	p.R17Q	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	3	284	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		0					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.50G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930456	0.34096	.	.	ENSG00000118004	ENST00000236693	T	0.05081	3.5	4.62	-4.24	0.03777	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43475	-0.9389	8	0.33940	T	0.23	-1.1399	0.8773	0.01227	0.193:0.3053:0.1738:0.3279	.	17	Q9BWP8-9	.	Q	17	ENSP00000236693:R17Q	ENSP00000236693:R17Q	R	+	2	0	COLEC11	3638783	0.714000	0.27936	0.810000	0.32431	0.817000	0.46193	0.010000	0.13242	-0.790000	0.04492	-1.099000	0.02127	CGG		0.597	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		17	78	0	0	0	1	0	17	78					A	3660908	G	A	3660908	2	1	79	1	0	0	0	0	0	0	0	1	3720	1116	39	1		1	COLEC11	2	3660908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399834	3660908	239538465	2128	12445											
ALLC	55821	broad.mit.edu	37	chr2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccaaggagtcatccGgggcttcgacgtggacgttt	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTCATCCGGGGCTTCGAC	0.552										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(217-219)cGg>cAg		allantoicase							152	162	159					2																	3727504		2119	4216	6335	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727504G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.218G>A	2.37:g.3727504G>A	ENSP00000252505:p.Arg73Gln	HNSCC(21;0.051)					p.R73Q	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	380	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	92					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.218G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357656	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	2.92	0.33932	Allantoicase domain (1);Galactose-binding domain-like (1);	0.384865	0.29572	N	0.011780	T	0.34135	0.0887	L	0.55743	1.74	0.31510	N	0.663645	B	0.30021	0.265	B	0.24155	0.051	T	0.29731	-1.0002	9	0.28530	T	0.3	-16.8036	3.8873	0.09103	0.2449:0.0:0.5818:0.1733	.	92	Q8N6M5	ALLC_HUMAN	Q	73	.	ENSP00000252505:R73Q	R	+	2	0	ALLC	3705379	0.993000	0.37304	0.953000	0.39169	0.496000	0.33645	1.576000	0.36504	0.865000	0.35603	0.655000	0.94253	CGG		0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			138	457	0	0	0	1	0	138	457					A	3727504	G	A	3727504	3	1	79	1	0	0	0	0	1	0	0	0	534	1116	39	1	232	1	ALLC	2	3727504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66596	3727504	239471869	2129	12446											
ALLC	55821	broad.mit.edu	37	chr2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacatcctggagtaataActcgaattgaaattgacaca	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	292					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGAGTAATAACTCGAATTGA	0.368										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(817-819)Act>Cct		allantoicase							142	138	139					2																	3745013		1843	4092	5935	SO:0001583	missense	55821						allantoicase activity	g.chr2:3745013A>C	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.817A>C	2.37:g.3745013A>C	ENSP00000252505:p.Thr273Pro	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.T273P	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	10	979	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	292					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.817A>C	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683681	0.29872	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.46	0.54185	Allantoicase domain (1);Galactose-binding domain-like (1);	0.292757	0.41001	D	0.000968	T	0.70159	0.3192	M	0.80746	2.51	0.39878	D	0.973603	D	0.58970	0.984	P	0.57846	0.828	T	0.72890	-0.4155	9	0.52906	T	0.07	-29.0378	9.3331	0.38034	0.9157:0.0:0.0843:0.0	.	292	Q8N6M5	ALLC_HUMAN	P	273	.	ENSP00000252505:T273P	T	+	1	0	ALLC	3722888	1.000000	0.71417	0.417000	0.26559	0.085000	0.17905	6.896000	0.75665	0.972000	0.38314	0.533000	0.62120	ACT		0.368	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			64	425	0	0	0	1	0	64	425					C	3745013	A	C	3745013	3	2	79	1	0	0	0	0	1	0	0	0	534	43	2	4	851	4	ALLC	2	3745013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17509	3745013	239454360	2130	12447											
SOX11	6664	broad.mit.edu	37	chr2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcggagagcttggaagCggagagcaacctgccccggg	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	10					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(28-30)gCg>gTg		SRY (sex determining region Y)-box 11							21	23	23					2																	5832882		2202	4299	6501	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832882C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.29C>T	2.37:g.5832882C>T	ENSP00000322568:p.Ala10Val						p.A10V	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	84	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		10					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.29C>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845208	0.51164	.	.	ENSG00000176887	ENST00000322002	D	0.97831	-4.56	3.18	2.15	0.27550	.	0.438607	0.17017	U	0.190244	D	0.90038	0.6889	N	0.08118	0	0.24184	N	0.995577	P	0.35155	0.487	B	0.24155	0.051	D	0.85314	0.1080	10	0.37606	T	0.19	.	6.8925	0.24236	0.0:0.629:0.2562:0.1147	.	10	P35716	SOX11_HUMAN	V	10	ENSP00000322568:A10V	ENSP00000322568:A10V	A	+	2	0	SOX11	5750333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.976000	0.40579	1.455000	0.47813	0.472000	0.43445	GCG		0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		14	109	0	0	0	1	0	14	109					T	5832882	C	T	5832882	3	4	79	1	0	0	0	0	1	0	0	0	14992	768	27	1	31	1	SOX11	2	5832882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2087869	5832882	237366491	2131	12448											
SOX11	6664	broad.mit.edu	37	chr2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggacgagagcgacccaGactggtgcaagacggcgtcg	15	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	40					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGACCCAGACTGGTGCAA	0.632																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(118-120)Gac>Tac		SRY (sex determining region Y)-box 11							52	46	48					2																	5832971		2203	4300	6503	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832971G>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.118G>T	2.37:g.5832971G>T	ENSP00000322568:p.Asp40Tyr						p.D40Y	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	173	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		40					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.118G>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515638	0.85389	.	.	ENSG00000176887	ENST00000322002	D	0.93811	-3.29	3.11	3.11	0.35812	High mobility group, superfamily (1);	0.000000	0.56097	U	0.000023	D	0.95351	0.8491	M	0.68593	2.085	0.53688	D	0.999976	D	0.64830	0.994	D	0.66351	0.943	D	0.95090	0.8221	10	0.49607	T	0.09	.	14.1887	0.65623	0.0:0.0:1.0:0.0	.	40	P35716	SOX11_HUMAN	Y	40	ENSP00000322568:D40Y	ENSP00000322568:D40Y	D	+	1	0	SOX11	5750422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.351000	0.73022	1.445000	0.47624	0.466000	0.42574	GAC		0.632	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		8	164	1	0	0.00307968	1	0.00310409	8	164					T	5832971	G	T	5832971	3	4	79	1	0	0	0	0	1	0	0	0	14992	942	33	3	120	3	SOX11	2	5832971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	5832971	237366402	2132	12449											
SOX11	6664	broad.mit.edu	37	chr2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctcggccaagcccagcGccagccagagcccagagaag	11	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(400-402)Gcc>Acc		SRY (sex determining region Y)-box 11							9	13	11					2																	5833253		2158	4256	6414	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833253G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.400G>A	2.37:g.5833253G>A	ENSP00000322568:p.Ala134Thr						p.A134T	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	455	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		134					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.400G>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169174	0.57584	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	2.82	2.82	0.32997	.	.	.	.	.	D	0.94159	0.8126	L	0.52011	1.625	0.39897	D	0.973855	B	0.25850	0.136	B	0.11329	0.006	D	0.90695	0.4616	9	0.13108	T	0.6	.	8.7744	0.34753	0.0:0.0:0.7743:0.2257	.	134	P35716	SOX11_HUMAN	T	134	ENSP00000322568:A134T	ENSP00000322568:A134T	A	+	1	0	SOX11	5750704	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	2.399000	0.44495	1.552000	0.49463	0.478000	0.44815	GCC		0.706	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		31	128	0	0	0	1	0	31	128					A	5833253	G	A	5833253	3	1	79	1	0	0	0	0	1	0	0	0	14992	1087	38	1	402	1	SOX11	2	5833253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	5833253	237366120	2133	12450											
RSAD2	91543	broad.mit.edu	37	chr2	7027154	7027154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccaaggaaagaagaaCcatgtggaaaaccttcaaaa	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(595-597)aaC>aaT		radical S-adenosyl methionine domain containing 2							113	105	107					2																	7027154		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027154C>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.597C>T	2.37:g.7027154C>T						RSAD2_ENST00000541728.1_Silent_p.N92N	p.N199N	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	733	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		199						Silent	SNP	ENST00000382040.3	37	c.597C>T	CCDS1656.1																																																																																				0.438	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		68	262	0	0	0	1	0	68	262					T	7027154	C	T	7027154	2	4	79	1	0	0	0	0	0	0	0	1	13745	506	18	2		2	RSAD2	2	7027154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1193901	7027154	236172219	2134	12451											
RNF144A	9781	broad.mit.edu	37	chr2	7170280	7170280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccttctgatacactaCgataagggaccctgccggaa	9	11	1	1	rs573785745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	227					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGATACACTACGATAAGGGAC	0.542																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(679-681)taC>taT		ring finger protein 144A							143	116	125					2																	7170280		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7170280C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.681C>T	2.37:g.7170280C>T						RNF144A_ENST00000467276.1_3'UTR	p.Y227Y	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	8	1123	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	227					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.681C>T	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751179	0.15778	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.09	-7.49	0.01355	.	.	.	.	.	T	0.62600	0.2441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	4	.	.	.	.	15.9038	0.79403	0.0:0.5952:0.0:0.4048	.	.	.	.	M	223	.	.	T	+	2	0	RNF144A	7087731	0.009000	0.17119	0.845000	0.33349	0.840000	0.47671	-1.079000	0.03410	-1.083000	0.03097	-0.619000	0.04042	ACG		0.542	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		30	484	0	0	0	1	0	30	484					T	7170280	C	T	7170280	2	4	79	1	0	0	0	0	0	0	0	1	13495	547	19	1		1	RNF144A	2	7170280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143126	7170280	236029093	2135	12452											
KIDINS220	57498	broad.mit.edu	37	chr2	8871069	8871069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaattccctccatctcatcGaaattttgattggctctgtt	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(5095-5097)ttC>ttT		kinase D-interacting substrate, 220kDa							120	111	114					2																	8871069		1908	4129	6037	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871069G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5097C>T	2.37:g.8871069G>A						KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	p.F1699F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	5278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1699					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.5097C>T	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		84	249	0	0	0	1	0	84	249					A	8871069	G	A	8871069	2	1	79	1	0	0	0	0	0	0	0	1	8301	1049	37	1		1	KIDINS220	2	8871069	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1700789	8871069	234328304	2136	12453											
KIDINS220	57498	broad.mit.edu	37	chr2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttctgaacaaatggaCatccgagctataattggatc	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1643					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAAATGGACATCCGAGCTA	0.493																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4927-4929)atG>atA		kinase D-interacting substrate, 220kDa							84	77	80					2																	8871237		1945	4131	6076	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871237C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4929G>A	2.37:g.8871237C>T	ENSP00000256707:p.Met1643Ile					KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	p.M1643I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	5110	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1643					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4929G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891470	0.91889	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.60575	0.979;0.964;0.988	D;D;D	0.73708	0.981;0.968;0.981	T	0.77169	-0.2686	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1544;1643;497	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1643;1624;1544;1624	ENSP00000256707:M1643I;ENSP00000411849:M1624I;ENSP00000414923:M1544I;ENSP00000418974:M1624I	ENSP00000256707:M1643I	M	-	3	0	KIDINS220	8788688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.861000	0.98227	0.655000	0.94253	ATG		0.493	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		68	317	0	0	0	1	0	68	317					T	8871237	C	T	8871237	3	4	79	1	0	0	0	0	1	0	0	0	8301	478	17	2	390	2	KIDINS220	2	8871237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	8871237	234328136	2137	12454											
KIDINS220	57498	broad.mit.edu	37	chr2	8871626	8871626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtttttgatagcgcaGcccacttcccttaagcttca	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1514					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATAGCGCAGCCCACTTCCC	0.458																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4540-4542)Ctg>Ttg		kinase D-interacting substrate, 220kDa							57	59	58					2																	8871626		1901	4114	6015	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871626G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4540C>T	2.37:g.8871626G>A						KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	p.L1514L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	4721	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1514					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.4540C>T	CCDS42650.1																																																																																				0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		59	313	0	0	0	1	0	59	313					A	8871626	G	A	8871626	2	1	79	1	0	0	0	0	0	0	0	1	8301	962	34	2		2	KIDINS220	2	8871626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	8871626	234327747	2138	12455											
KIDINS220	57498	broad.mit.edu	37	chr2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatatgagccatgaagtcCggtatggccactgctcagta	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	978					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATGAAGTCCGGTATGGCCA	0.398																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(2932-2934)cGg>cAg		kinase D-interacting substrate, 220kDa							90	90	90					2																	8910878		1881	4116	5997	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8910878C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2933G>A	2.37:g.8910878C>T	ENSP00000256707:p.Arg978Gln					KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q	p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			22	3114	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		978					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2933G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436799	0.96168	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80566	-0.31;-1.39;-1.32;-1.17;-1.32;-1.32;-1.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.91635	0.921;0.999;0.999;0.997	D	0.92224	0.5787	10	0.87932	D	0	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	979;979;936;978	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	725;662;978;978;936;978;979;979	ENSP00000420364:R725Q;ENSP00000256707:R978Q;ENSP00000411849:R978Q;ENSP00000414923:R936Q;ENSP00000418974:R978Q;ENSP00000419964:R979Q;ENSP00000319947:R979Q	ENSP00000256707:R978Q	R	-	2	0	KIDINS220	8828329	1.000000	0.71417	0.814000	0.32528	0.955000	0.61496	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	CGG		0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		100	245	0	0	0	1	0	100	245					T	8910878	C	T	8910878	3	4	79	1	0	0	0	0	1	0	0	0	8301	652	23	1	2418	1	KIDINS220	2	8910878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39252	8910878	234288495	2139	12456											
KIDINS220	57498	broad.mit.edu	37	chr2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaatcctaccctgaGtatcttcagtcttgaatact	8	9	3	2	rs185330217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	645	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTACCCTGAGTATCTTCAGT	0.423																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1933-1935)aCt>aAt		kinase D-interacting substrate, 220kDa							116	110	112					2																	8926341		1860	4103	5963	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8926341G>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1934C>A	2.37:g.8926341G>T	ENSP00000256707:p.Thr645Asn					KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N	p.T645N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			16	2115	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		645			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1934C>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554050	0.45487	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	5.07	0.68467	KAP P-loop (1);	0.483087	0.25283	N	0.031782	T	0.32763	0.0840	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.18610	0.029;0.025;0.02;0.025	B;B;B;B	0.34779	0.081;0.189;0.095;0.121	T	0.35400	-0.9790	10	0.51188	T	0.08	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	646;646;603;645	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	N	392;329;645;645;603;645;646;646	ENSP00000420364:T392N;ENSP00000256707:T645N;ENSP00000411849:T645N;ENSP00000414923:T603N;ENSP00000418974:T645N;ENSP00000419964:T646N;ENSP00000319947:T646N	ENSP00000256707:T645N	T	-	2	0	KIDINS220	8843792	0.989000	0.36119	0.077000	0.20336	0.960000	0.62799	5.320000	0.65841	1.488000	0.48433	0.655000	0.94253	ACT		0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		184	559	1	0	4.99305e-99	1	6.4203e-99	184	559					T	8926341	G	T	8926341	3	4	79	1	0	0	0	0	1	0	0	0	8301	1029	36	3	3441	3	KIDINS220	2	8926341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15463	8926341	234273032	2140	12457											
KIDINS220	57498	broad.mit.edu	37	chr2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatccgagagggttgcaatCatttcagccagagaagtttc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	617	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGTTGCAATCATTTCAGCCA	0.383																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1849-1851)atG>atA		kinase D-interacting substrate, 220kDa							162	153	156					2																	8926424		1846	4087	5933	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8926424C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1851G>A	2.37:g.8926424C>T	ENSP00000256707:p.Met617Ile					KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I	p.M617I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			16	2032	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		617			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1851G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834841	0.91036	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.979;0.983	D;D;D;D	0.91635	0.968;0.999;0.986;0.992	T	0.22277	-1.0221	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	618;618;575;617	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	I	364;301;617;617;575;617;618;618	ENSP00000420364:M364I;ENSP00000256707:M617I;ENSP00000411849:M617I;ENSP00000414923:M575I;ENSP00000418974:M617I;ENSP00000419964:M618I;ENSP00000319947:M618I	ENSP00000256707:M617I	M	-	3	0	KIDINS220	8843875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.885000	0.99019	0.655000	0.94253	ATG		0.383	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		68	885	0	0	0	1	0	68	885					T	8926424	C	T	8926424	3	4	79	1	0	0	0	0	1	0	0	0	8301	826	29	2	3524	2	KIDINS220	2	8926424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	8926424	234272949	2141	12458											
KIDINS220	57498	broad.mit.edu	37	chr2	8936988	8936988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtagcctttataagtggCgtttcaccatcctgtgggca	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000473731.1_Silent_p.T337T|KIDINS220_ENST00000319688.5_Silent_p.T338T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATAAGTGGCGTTTCACCAT	0.398																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1009-1011)acG>acA		kinase D-interacting substrate, 220kDa							212	207	209					2																	8936988		1964	4164	6128	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8936988C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1011G>A	2.37:g.8936988C>T						KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000473731.1_Silent_p.T337T	p.T337T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			11	1192	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		337					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.1011G>A	CCDS42650.1																																																																																				0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		15	638	0	0	0	1	0	15	638					T	8936988	C	T	8936988	2	4	79	1	0	0	0	0	0	0	0	1	8301	755	27	1		1	KIDINS220	2	8936988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10564	8936988	234262385	2142	12459											
KIDINS220	57498	broad.mit.edu	37	chr2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctctacgatgtgcacaTgcccttctttcgatgcagat	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	83					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGTGCACATGCCCTTCTTT	0.343																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(247-249)cAt>cGt		kinase D-interacting substrate, 220kDa							191	178	182					2																	8957806		1903	4096	5999	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8957806T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.248A>G	2.37:g.8957806T>C	ENSP00000256707:p.His83Arg					KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R	p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			4	429	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		83					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.248A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584883	0.65992	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65732	-0.12;-0.12;-0.17;-0.12;-0.12;-0.12	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.26162	0.8	0.80722	D	1	D;D;D	0.89917	0.968;0.999;1.0	D;D;D	0.91635	0.969;0.999;0.999	T	0.73094	-0.4091	10	0.72032	D	0.01	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	83;41;83	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	83;83;41;83;83;83	ENSP00000256707:H83R;ENSP00000411849:H83R;ENSP00000414923:H41R;ENSP00000418974:H83R;ENSP00000419964:H83R;ENSP00000319947:H83R	ENSP00000256707:H83R	H	-	2	0	KIDINS220	8875257	1.000000	0.71417	0.915000	0.36163	0.446000	0.32137	6.861000	0.75478	2.199000	0.70637	0.533000	0.62120	CAT		0.343	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		154	488	0	0	0	1	0	154	488					C	8957806	T	C	8957806	3	2	79	1	0	0	0	0	1	0	0	0	8301	1464	51	4	5175	4	KIDINS220	2	8957806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20818	8957806	234241567	2143	12460											
ASAP2	8853	broad.mit.edu	37	chr2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggagaaaaaggaacacGccaagctccatgggatgatt	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	168					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(502-504)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							118	118	118					2																	9463281		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463281G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.502G>A	2.37:g.9463281G>A	ENSP00000281419:p.Ala168Thr					ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			6	842	+			168					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.502G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649500	0.96714	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04551	3.6;3.6	5.21	5.21	0.72293	.	0.109197	0.64402	D	0.000006	T	0.22589	0.0545	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.954	T	0.00162	-1.1971	10	0.51188	T	0.08	.	18.5624	0.91105	0.0:0.0:1.0:0.0	.	168;168	O43150-2;O43150	.;ASAP2_HUMAN	T	168	ENSP00000281419:A168T;ENSP00000316404:A168T	ENSP00000281419:A168T	A	+	1	0	ASAP2	9380732	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	9.342000	0.97044	2.702000	0.92279	0.655000	0.94253	GCC		0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		74	695	0	0	0	1	0	74	695					A	9463281	G	A	9463281	3	1	79	1	0	0	0	0	1	0	0	0	1012	1087	38	1	524	1	ASAP2	2	9463281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505475	9463281	233736092	2144	12461											
ASAP2	8853	broad.mit.edu	37	chr2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcctaagcgggtgaaaGcgctctataactgtgtggct	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	951	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2851-2853)Gcg>Acg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							112	105	107					2																	9541430		2202	4298	6500	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9541430G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2851G>A	2.37:g.9541430G>A	ENSP00000281419:p.Ala951Thr					ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	p.A951T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			27	3191	+			951			SH3.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2851G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387495	0.61956	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.69685	-0.42;-0.42	5.66	5.66	0.87406	Src homology-3 domain (4);	0.049976	0.85682	D	0.000000	D	0.85177	0.5637	M	0.90019	3.08	0.58432	D	0.999999	D;B	0.71674	0.998;0.008	D;B	0.81914	0.995;0.106	D	0.84036	0.0362	10	0.30078	T	0.28	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	906;951	O43150-2;O43150	.;ASAP2_HUMAN	T	951;906	ENSP00000281419:A951T;ENSP00000316404:A906T	ENSP00000281419:A951T	A	+	1	0	ASAP2	9458881	1.000000	0.71417	0.979000	0.43373	0.730000	0.41778	9.452000	0.97615	2.669000	0.90835	0.655000	0.94253	GCG		0.592	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		61	352	0	0	0	1	0	61	352					A	9541430	G	A	9541430	3	1	79	1	0	0	0	0	1	0	0	0	1012	971	34	2	2957	2	ASAP2	2	9541430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78149	9541430	233657943	2145	12462											
IAH1	285148	broad.mit.edu	37	chr2	9621566	9621566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctgggaagaacagtgCatcatacaaggtaaacaaac	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000497473.1	+	4	472	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000470914.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	145					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512																																						ENST00000470914.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(94-96)tgC>tgT		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							49	49	49					2																	9621566		1986	4174	6160	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9621566C>T	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.435C>T	2.37:g.9621566C>T						IAH1_ENST00000497473.1_Silent_p.C145C|IAH1_ENST00000482918.1_Silent_p.C32C|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000489468.1_3'UTR	p.C32C			Q2TAA2	IAH1_HUMAN			3	412	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		145					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.96C>T	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274065	0.10403	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.38	2.56	0.30785	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-28.454	10.0625	0.42284	0.0:0.657:0.0:0.343	.	.	.	.	V	125	.	.	A	+	2	0	IAH1	9539017	0.047000	0.20315	0.040000	0.18447	0.035000	0.12851	0.441000	0.21611	0.753000	0.32945	0.563000	0.77884	GCA		0.512	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		30	159	0	0	0	1	0	30	159					T	9621566	C	T	9621566	2	4	79	1	0	0	0	0	0	0	0	1	7501	718	25	2		2	IAH1	2	9621566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80136	9621566	233577807	2146	12463											
ADAM17	6868	broad.mit.edu	37	chr2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatatttttcttcccaaCtgggctataataagctaaag	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTCTTCCCAACTGGGCTATAA	0.289																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(1117-1119)Gtt>Att		ADAM metallopeptidase domain 17							60	68	65					2																	9658104		2196	4292	6488	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9658104C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1117G>A	2.37:g.9658104C>T	ENSP00000309968:p.Val373Ile						p.V373I	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	10	1299	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		373			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.1117G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742956	0.15642	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	6.17	-2.53	0.06326	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	1.724310	0.02114	N	0.055067	T	0.73321	0.3572	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56757	-0.7926	10	0.27082	T	0.32	.	0.8013	0.01075	0.2124:0.162:0.3155:0.31	.	373;373	B2RNB2;P78536	.;ADA17_HUMAN	I	373	ENSP00000309968:V373I	ENSP00000309968:V373I	V	-	1	0	ADAM17	9575555	0.000000	0.05858	0.031000	0.17742	0.954000	0.61252	-1.130000	0.03241	-0.426000	0.07360	-0.137000	0.14449	GTT		0.289	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			111	359	0	0	0	1	0	111	359					T	9658104	C	T	9658104	3	4	79	1	0	0	0	0	1	0	0	0	238	565	20	2	1397	2	ADAM17	2	9658104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36538	9658104	233541269	2147	12464											
ADAM17	6868	broad.mit.edu	37	chr2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgattataacatcatcatCtcttatgtgggctagaaccc	6	10	4	2	rs199524645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000310823.3	-	4	579	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	133					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACATCATCATCTCTTATGTGG	0.299																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(397-399)Gat>Aat		ADAM metallopeptidase domain 17							59	60	59					2																	9676016		2202	4298	6500	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676016C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.397G>A	2.37:g.9676016C>T	ENSP00000309968:p.Asp133Asn					ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	4	579	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		133					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.397G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684898	0.88639	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.67698	1.92;-0.28	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.226724	0.43260	D	0.000593	T	0.79822	0.4512	L	0.54908	1.71	0.58432	D	0.999997	D;P;D;P	0.89917	1.0;0.605;1.0;0.605	D;B;D;B	0.97110	1.0;0.264;1.0;0.264	T	0.80214	-0.1475	10	0.59425	D	0.04	.	19.3847	0.94551	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	N	133	ENSP00000309968:D133N;ENSP00000418728:D133N	ENSP00000309968:D133N	D	-	1	0	ADAM17	9593467	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.452000	0.52971	2.642000	0.89623	0.557000	0.71058	GAT		0.299	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			14	196	0	0	0	1	0	14	196					T	9676016	C	T	9676016	3	4	79	1	0	0	0	0	1	0	0	0	238	913	32	2	2141	2	ADAM17	2	9676016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17912	9676016	233523357	2148	12465											
ADAM17	6868	broad.mit.edu	37	chr2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggtgggggccgaagcCcgggtcatccggaggtcgcg	18	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000310823.3	-	1	255	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S|RP11-214N9.1_ENST00000607241.1_lincRNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	25					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGCCGAAGCCCGGGTCATCC	0.652											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(73-75)Ggc>Agc		ADAM metallopeptidase domain 17							24	27	26					2																	9695662		2201	4296	6497	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9695662C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.73G>A	2.37:g.9695662C>T	ENSP00000309968:p.Gly25Ser		OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	658	ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	p.G25S	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	1	255	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		25					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.73G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070722	0.07228	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.61859	2.18;0.07	4.36	2.52	0.30459	.	0.486110	0.22687	N	0.056878	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16166	0.016;0.001;0.016;0.001	B;B;B;B	0.15870	0.007;0.001;0.014;0.001	T	0.17930	-1.0353	10	0.30854	T	0.27	.	8.9281	0.35652	0.0:0.7999:0.0:0.2001	.	25;25;25;25	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	S	25	ENSP00000309968:G25S;ENSP00000418728:G25S	ENSP00000309968:G25S	G	-	1	0	ADAM17	9613113	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.044000	0.30329	0.585000	0.29608	-0.797000	0.03246	GGC		0.652	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			11	58	0	0	0	1	0	11	58					T	9695662	C	T	9695662	3	4	79	1	0	0	0	0	1	0	0	0	238	623	22	2	2477	2	ADAM17	2	9695662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19646	9695662	233503711	2149	12466											
TAF1B	9014	broad.mit.edu	37	chr2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagacataactgaagactgCtatcttcatcccaacatact	4	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	300	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(898-900)tgC>tgA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							124	110	114					2																	10045080		2203	4300	6503	SO:0001587	stop_gained	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10045080C>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.900C>A	2.37:g.10045080C>A	ENSP00000263663:p.Cys300*					TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	p.C300*	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			9	1088	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		300					B4DI42|F8WD72|Q15574|Q8WVC3	Nonsense_Mutation	SNP	ENST00000263663.5	37	c.900C>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576971	0.97676	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	.	.	.	5.67	4.69	0.59074	.	0.183950	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1512	9.6841	0.40087	0.0:0.8161:0.0:0.1839	.	.	.	.	X	300;45	.	.	C	+	3	2	TAF1B	9962531	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.293000	0.33353	2.673000	0.90976	0.467000	0.42956	TGC		0.388	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		85	396	1	0	3.24273e-39	1	3.91873e-39	85	396					A	10045080	C	A	10045080	4	1	79	1	0	0	0	0	0	1	0	0	15572	805	28	3	934	3	TAF1B	2	10045080	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349418	10045080	233154293	2150	12467											
TAF1B	9014	broad.mit.edu	37	chr2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcataatgaaaagaacaAaaaaggtattttaatttttt	5	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	392					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1174-1176)aAa>aGa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							29	30	30					2																	10051681		2176	4251	6427	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10051681A>G	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1175A>G	2.37:g.10051681A>G	ENSP00000263663:p.Lys392Arg					TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	p.K392R	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			11	1363	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		392					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.1175A>G	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851969	0.32699	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.15017	2.65;2.46	4.94	3.73	0.42828	.	0.556803	0.20552	N	0.090085	T	0.13884	0.0336	L	0.41824	1.3	0.29256	N	0.871621	B;B	0.18461	0.028;0.011	B;B	0.16289	0.01;0.015	T	0.13872	-1.0493	9	.	.	.	-6.2759	10.5333	0.44990	0.9209:0.0:0.0791:0.0	.	392;392	Q53T94;Q53T94-2	TAF1B_HUMAN;.	R	392;137	ENSP00000263663:K392R;ENSP00000379542:K137R	.	K	+	2	0	TAF1B	9969132	1.000000	0.71417	0.509000	0.27700	0.952000	0.60782	1.432000	0.34936	0.684000	0.31448	0.482000	0.46254	AAA		0.249	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		22	114	0	0	0	1	0	22	114					G	10051681	A	G	10051681	3	3	79	1	0	0	0	0	1	0	0	0	15572	14	1	4	1217	4	TAF1B	2	10051681	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6601	10051681	233147692	2151	12468											
TAF1B	9014	broad.mit.edu	37	chr2	10073915	10073915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttcccttctagctaTtgtacacatgtgacaaccta	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	TAF1B_ENST00000396242.3_Silent_p.Y268Y|RP11-95D17.1_ENST00000602458.1_lincRNA	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	523					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)taT>taC		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							58	63	61					2																	10073915		2197	4293	6490	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10073915T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1569T>C	2.37:g.10073915T>C						TAF1B_ENST00000396242.3_Silent_p.Y268Y	p.Y523Y	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			15	1757	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		523					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.1569T>C	CCDS33143.1																																																																																				0.348	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		70	195	0	0	0	1	0	70	195					C	10073915	T	C	10073915	2	2	79	1	0	0	0	0	0	0	0	1	15572	1500	52	4		4	TAF1B	2	10073915	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22234	10073915	233125458	2152	12469											
GRHL1	29841	broad.mit.edu	37	chr2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctgagcccactgagCgggtggtggttttcgatcgg	14	10	1	2	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	182					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCACTGAGCGGGTGGTGGT	0.542																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(544-546)Cgg>Tgg		grainyhead-like 1 (Drosophila)		C	TRP/ARG	0,4406		0,0,2203	119	115	117		544	5.5	0.9	2	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/619	10101440	1,13005	2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101440C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.544C>T	2.37:g.10101440C>T	ENSP00000324693:p.Arg182Trp					GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	680	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		182					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.544C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181082	0.78677	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.13420	2.59;2.6	5.5	5.5	0.81552	.	0.100619	0.64402	D	0.000002	T	0.24470	0.0593	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	T	0.00287	-1.1846	10	0.39692	T	0.17	.	14.258	0.66065	0.1489:0.8511:0.0:0.0	.	182	Q9NZI5	GRHL1_HUMAN	W	182	ENSP00000384209:R182W;ENSP00000324693:R182W	ENSP00000324693:R182W	R	+	1	2	GRHL1	10018891	1.000000	0.71417	0.902000	0.35471	0.942000	0.58702	4.218000	0.58554	2.594000	0.87642	0.563000	0.77884	CGG		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		115	566	0	0	0	1	0	115	566					T	10101440	C	T	10101440	3	4	79	1	0	0	0	0	1	0	0	0	6793	759	27	1	558	1	GRHL1	2	10101440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27525	10101440	233097933	2153	12470											
KLF11	8462	broad.mit.edu	37	chr2	10192541	10192541	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatgacgaccaagaagatCccaggctggcaggcagaggt	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000305883.1	+	4	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_ENST00000540845.1_Silent_p.I465I|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000535335.1_Silent_p.I465I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	482					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612																																					Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1393-1395)atC>atA		Kruppel-like factor 11							57	56	56					2																	10192541		2203	4300	6503	SO:0001819	synonymous_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10192541C>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1446C>A	2.37:g.10192541C>A						KLF11_ENST00000540845.1_Silent_p.I465I|KLF11_ENST00000305883.1_Silent_p.I482I	p.I465I	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	4	1611	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		482					B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	c.1395C>A	CCDS1668.1																																																																																				0.612	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		72	206	1	0	5.98616e-33	1	7.08481e-33	72	206					A	10192541	C	A	10192541	2	1	79	1	0	0	0	0	0	0	0	1	8369	845	30	3		3	KLF11	2	10192541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91101	10192541	233006832	2154	12471											
C2orf48	348738	broad.mit.edu	37	chr2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctggagcgaccctgttTcagaatgaagttatctgggt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(334-336)tTc>tCc		chromosome 2 open reading frame 48							51	55	54					2																	10350578		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350578T>C	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.335T>C	2.37:g.10350578T>C	ENSP00000371205:p.Phe112Ser						p.F112S	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	624	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		112						Missense_Mutation	SNP	ENST00000381786.3	37	c.335T>C	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	T	7.417	0.635880	0.14386	.	.	ENSG00000163009	ENST00000381786	T	0.46451	0.87	1.51	-0.013	0.13986	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	3.5676	0.07905	0.5114:0.0:0.0:0.4886	.	112	Q96LS8	CB048_HUMAN	S	112	ENSP00000371205:F112S	ENSP00000371205:F112S	F	+	2	0	C2orf48	10268029	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.390000	0.07332	-0.033000	0.13736	0.448000	0.29417	TTC		0.572	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		95	379	0	0	0	1	0	95	379					C	10350578	T	C	10350578	3	2	79	1	0	0	0	0	1	0	0	0	2177	1783	62	4	345	4	C2orf48	2	10350578	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	158037	10350578	232848795	2155	12472											
NOL10	79954	broad.mit.edu	37	chr2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgtgtcttgacttcaGgtgtccggccgaacgacgga	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000381685.5	-	21	2134	c.2029C>A	c.(2029-2031)Ctg>Atg	p.L677M	NOL10_ENST00000542668.1_Missense_Mutation_p.L627M|NOL10_ENST00000345985.3_Missense_Mutation_p.L627M|NOL10_ENST00000538384.1_Missense_Mutation_p.L651M	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473																																						ENST00000345985.3																			0											c.(1879-1881)Ctg>Atg		nucleolar protein 10							280	247	258					2																	10712235		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10712235G>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2029C>A	2.37:g.10712235G>T	ENSP00000371101:p.Leu677Met					NOL10_ENST00000538384.1_Missense_Mutation_p.L651M|NOL10_ENST00000381685.5_Missense_Mutation_p.L677M|NOL10_ENST00000542668.1_Missense_Mutation_p.L627M	p.L627M	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1989	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		677					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1879C>A	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617780	0.66787	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.51071	0.72;1.36;1.36;1.36	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.74258	2.255	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.97;0.97;0.976	T	0.67711	-0.5600	10	0.49607	T	0.09	-12.1252	11.6934	0.51529	0.1419:0.0:0.8581:0.0	.	651;677;627	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	M	627;677;627;651	ENSP00000263837:L627M;ENSP00000371101:L677M;ENSP00000437625:L627M;ENSP00000439663:L651M	ENSP00000263837:L627M	L	-	1	2	NOL10	10629686	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.564000	0.45931	1.420000	0.47138	0.655000	0.94253	CTG		0.473	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		308	852	1	0	4.66897e-105	1	6.00787e-105	308	852					T	10712235	G	T	10712235	3	4	79	1	0	0	0	0	1	0	0	0	10562	991	35	3	41	3	NOL10	2	10712235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361657	10712235	232487138	2156	12473											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912016	10912016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtgagcaaagaggacttCgtgctggattctgaatatct	11	6	2	3	rs574141383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000272238.4	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.F174F	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21465	0.0		0.0	False		,,,				2504	0.001				NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			2	Substitution - Missense(2)	p.F174L(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(520-522)ttC>ttT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							192	177	182					2																	10912016		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912016C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.522C>T	2.37:g.10912016C>T						ATP6V1C2_ENST00000272238.4_Silent_p.F174F	p.F174F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	7	631	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		174					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.522C>T	CCDS42653.1																																																																																				0.532	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		240	706	0	0	0	1	0	240	706					T	10912016	C	T	10912016	2	4	79	1	0	0	0	0	0	0	0	1	1182	883	31	1		1	ATP6V1C2	2	10912016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199781	10912016	232287357	2157	12474											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgaagccttcattgcctgGatccacatcaaggccctgag	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000272238.4	+	12	1126	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.W293C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	339					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(877-879)tgG>tgT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							135	123	127					2																	10918751		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10918751G>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1017G>T	2.37:g.10918751G>T	ENSP00000272238:p.Trp339Cys					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.W339C	p.W293C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	988	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.879G>T	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419227	0.83559	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51325	0.71;0.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.89601	3.045	0.80722	D	1	B;D	0.76494	0.172;0.999	B;D	0.70935	0.19;0.971	T	0.80120	-0.1515	10	0.72032	D	0.01	-8.0036	19.9204	0.97084	0.0:0.0:1.0:0.0	.	293;339	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	339;293	ENSP00000272238:W339C;ENSP00000371077:W293C	ENSP00000272238:W339C	W	+	3	0	ATP6V1C2	10836202	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.773000	0.98989	2.721000	0.93114	0.491000	0.48974	TGG		0.622	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		92	319	1	0	2.18907e-53	1	2.72816e-53	92	319					T	10918751	G	T	10918751	3	4	79	1	0	0	0	0	1	0	0	0	1182	1183	41	3	1059	3	ATP6V1C2	2	10918751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6735	10918751	232280622	2158	12475											
PDIA6	10130	broad.mit.edu	37	chr2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaacatcttcactgtccaGaacattcttatcaaagctgt	4	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000272227.3	-	6	670	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000404371.2_Missense_Mutation_p.L227M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	175	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(679-681)Ctg>Atg		protein disulfide isomerase family A, member 6							280	207	232					2																	10931982		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10931982G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.523C>A	2.37:g.10931982G>T	ENSP00000272227:p.Leu175Met					PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000272227.3_Missense_Mutation_p.L175M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M	p.L227M			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	8	1016	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		175			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.679C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845266	0.51164	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.63	5.63	0.86233	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.062970	0.64402	D	0.000003	T	0.14527	0.0351	M	0.67700	2.07	0.80722	D	1	B;B;B;P	0.40476	0.313;0.197;0.079;0.718	P;B;P;P	0.61132	0.579;0.397;0.448;0.884	T	0.00007	-1.2496	10	0.66056	D	0.02	.	10.7576	0.46245	0.0694:0.0:0.7977:0.1329	.	172;223;227;175	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	175;227;223;172;180	ENSP00000272227:L175M;ENSP00000385385:L227M;ENSP00000384459:L223M;ENSP00000438778:L172M;ENSP00000371024:L180M	ENSP00000272227:L175M	L	-	1	2	PDIA6	10849433	0.988000	0.35896	0.552000	0.28243	0.471000	0.32888	1.670000	0.37502	2.826000	0.97356	0.655000	0.94253	CTG		0.398	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		108	269	1	0	8.13839e-76	1	1.0381e-75	108	269					T	10931982	G	T	10931982	3	4	79	1	0	0	0	0	1	0	0	0	11714	933	33	3	831	3	PDIA6	2	10931982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13231	10931982	232267391	2159	12476											
KCNF1	3754	broad.mit.edu	37	chr2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagcgagaagcgcgaGgagctggaggagatcgcgcg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	136					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(406-408)gaG>gaT		potassium voltage-gated channel, subfamily F, member 1							44	50	48					2																	11052960		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052960G>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.408G>T	2.37:g.11052960G>T	ENSP00000295082:p.Glu136Asp						p.E136D	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	898	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		136					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.408G>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282346	0.23392	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	5.19	4.06	0.47325	BTB/POZ fold (2);	1.515580	0.04082	N	0.309783	D	0.90497	0.7023	N	0.20685	0.6	0.44492	D	0.99743	B	0.09022	0.002	B	0.06405	0.002	T	0.70234	-0.4928	10	0.34782	T	0.22	.	12.4587	0.55718	0.1157:0.0:0.8843:0.0	.	136	Q9H3M0	KCNF1_HUMAN	D	136	ENSP00000295082:E136D	ENSP00000295082:E136D	E	+	3	2	KCNF1	10970411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.564000	0.86499	0.563000	0.77884	GAG		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		50	400	1	0	3.10996e-30	1	3.64561e-30	50	400					T	11052960	G	T	11052960	3	4	79	1	0	0	0	0	1	0	0	0	8056	991	35	3	410	3	KCNF1	2	11052960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120978	11052960	232146413	2160	12477											
C2orf50	130813	broad.mit.edu	37	chr2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtcttgctggtggctGccaggccccccaggctctga	15	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	AC062028.1_ENST00000396164.1_lincRNA|C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711																																						ENST00000381585.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(136-138)tGc>tAc		chromosome 2 open reading frame 50							12	16	15					2																	11273597		2190	4280	6470	SO:0001583	missense	130813							g.chr2:11273597G>A	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.137G>A	2.37:g.11273597G>A	ENSP00000370997:p.Cys46Tyr					C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y	p.C46Y			Q96LR7	CB050_HUMAN		Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)	1	419	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		46					A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	c.137G>A	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035269	0.19590	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.35	-0.0478	0.13841	.	0.865809	0.09677	N	0.770278	T	0.26991	0.0661	N	0.22421	0.69	0.09310	N	1	B	0.33288	0.406	B	0.31245	0.126	T	0.15780	-1.0425	9	0.24483	T	0.36	5.7794	11.1446	0.48424	0.0:0.5472:0.4528:0.0	.	46	Q96LR7	CB050_HUMAN	Y	46	.	ENSP00000370997:C46Y	C	+	2	0	C2orf50	11191048	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-0.850000	0.04317	-0.026000	0.13895	0.472000	0.43445	TGC		0.711	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500		33	106	0	0	0	1	0	33	106					A	11273597	G	A	11273597	3	1	79	1	0	0	0	0	1	0	0	0	2179	1319	46	2	139	2	C2orf50	2	11273597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220637	11273597	231925776	2161	12478											
ROCK2	9475	broad.mit.edu	37	chr2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctatactggaactaTccagaccaatatgcaaggct	7	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1131		Cleavage; by granzyme B.			actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTGGAACTATCCAGACCAAT	0.433																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3391-3393)gAt>gGt		Rho-associated, coiled-coil containing protein kinase 2							124	117	120					2																	11337362		1982	4162	6144	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337362T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3392A>G	2.37:g.11337362T>C	ENSP00000317985:p.Asp1131Gly					ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	p.D1131G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3840	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1131				Cleavage; by granzyme B.	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3392A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885433	0.91814	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.74881	2.28	0.80722	D	1	D	0.56035	0.974	P	0.53062	0.717	T	0.74447	-0.3662	10	0.42905	T	0.14	.	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1131	O75116	ROCK2_HUMAN	G	1131;888;489	ENSP00000317985:D1131G;ENSP00000385509:D888G	ENSP00000317985:D1131G	D	-	2	0	ROCK2	11254813	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.842000	0.86851	2.180000	0.69256	0.460000	0.39030	GAT		0.433	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			141	345	0	0	0	1	0	141	345					C	11337362	T	C	11337362	3	2	79	1	0	0	0	0	1	0	0	0	13568	1435	50	4	802	4	ROCK2	2	11337362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63765	11337362	231862011	2162	12479											
E2F6	1876	broad.mit.edu	37	chr2	11597324	11597324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatggacacatattgTacattatcttctaaattaat	3	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	48					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249																																						ENST00000381525.3																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8						c.(142-144)gtA>gtG		E2F transcription factor 6							79	73	75					2																	11597324		1788	4061	5849	SO:0001819	synonymous_variant	1876				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	g.chr2:11597324T>C	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.144A>G	2.37:g.11597324T>C						E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000362009.4_Silent_p.V48V	p.V48V	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	2	413	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		48					A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Silent	SNP	ENST00000381525.3	37	c.144A>G	CCDS1680.2																																																																																				0.249	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952		43	114	0	0	0	1	0	43	114					C	11597324	T	C	11597324	2	2	79	1	0	0	0	0	0	0	0	1	4887	1625	57	4		4	E2F6	2	11597324	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	259962	11597324	231602049	2163	12480											
GREB1	9687	broad.mit.edu	37	chr2	11733252	11733252	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcatcgccgtcaccGgtgagctctgggccgcgcgg	14	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	566						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.e11+1		growth regulation by estrogen in breast cancer 1							14	14	14					2																	11733252		2026	4152	6178	SO:0001630	splice_region_variant	9687					integral to membrane		g.chr2:11733252G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1696+1G>A	2.37:g.11733252G>A						GREB1_ENST00000234142.5_Splice_Site_p.G566_splice	p.G566_splice	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	11	1996	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		566					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Splice_Site	SNP	ENST00000381486.2	37	c.1696_splice	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475001	0.84640	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.61742	2.45;2.45;0.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80306	-0.1438	10	0.87932	D	0	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	200;566	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	566;566;200	ENSP00000370896:G566R;ENSP00000234142:G566R;ENSP00000403886:G200R	ENSP00000234142:G566R	G	+	1	0	GREB1	11650703	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	9.306000	0.96204	2.332000	0.79248	0.591000	0.81541	GGA		0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	Missense_Mutation	21	80	0	0	0	1	0	21	80					A	11733252	G	A	11733252	5	1	79	1	0	0	0	0	0	0	1	0	6790	1130	39	1	1842	1	GREB1	2	11733252	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135928	11733252	231466121	2164	12481											
GREB1	9687	broad.mit.edu	37	chr2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaactccttccagaacCcgcatacactttttgtccta	4	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	761						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2281-2283)Ccg>Tcg		growth regulation by estrogen in breast cancer 1							185	180	182					2																	11738934		1928	4130	6058	SO:0001583	missense	9687					integral to membrane		g.chr2:11738934C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2281C>T	2.37:g.11738934C>T	ENSP00000370896:p.Pro761Ser					GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	15	2581	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		761					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2281C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126189	0.20959	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.48522	3.14;3.14;0.81	5.04	5.04	0.67666	.	0.208574	0.42821	D	0.000660	T	0.65883	0.2734	L	0.60845	1.875	0.58432	D	0.999997	P;D	0.89917	0.884;1.0	B;D	0.87578	0.292;0.998	T	0.63804	-0.6554	10	0.36615	T	0.2	-49.1598	18.3867	0.90469	0.0:1.0:0.0:0.0	.	395;761	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	761;761;395	ENSP00000370896:P761S;ENSP00000234142:P761S;ENSP00000403886:P395S	ENSP00000234142:P761S	P	+	1	0	GREB1	11656385	1.000000	0.71417	0.543000	0.28128	0.044000	0.14063	4.476000	0.60216	2.344000	0.79699	0.563000	0.77884	CCG		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		179	499	0	0	0	1	0	179	499					T	11738934	C	T	11738934	3	4	79	1	0	0	0	0	1	0	0	0	6790	623	22	2	2443	2	GREB1	2	11738934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5682	11738934	231460439	2165	12482											
GREB1	9687	broad.mit.edu	37	chr2	11756779	11756779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctcggagaagagaagCcccatgaaaagggagaggtc	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1115	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3343-3345)agC>agT		growth regulation by estrogen in breast cancer 1							202	223	216					2																	11756779		2028	4195	6223	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11756779C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3345C>T	2.37:g.11756779C>T						GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	p.S1115S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	21	3645	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1115			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.3345C>T	CCDS42655.1																																																																																				0.547	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		156	1134	0	0	0	1	0	156	1134					T	11756779	C	T	11756779	2	4	79	1	0	0	0	0	0	0	0	1	6790	738	26	2		2	GREB1	2	11756779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17845	11756779	231442594	2166	12483											
GREB1	9687	broad.mit.edu	37	chr2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgccgcggtcgtgccggCccagtacatctgtgccccgg	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1793						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5377-5379)gCc>gTc		growth regulation by estrogen in breast cancer 1							54	61	58					2																	11777873		2110	4213	6323	SO:0001583	missense	9687					integral to membrane		g.chr2:11777873C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5378C>T	2.37:g.11777873C>T	ENSP00000370896:p.Ala1793Val					GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	p.A1793V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	31	5678	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1793					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5378C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953873	0.18431	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22134	3.29;3.29;1.97	4.75	3.87	0.44632	.	0.253826	0.39210	N	0.001434	T	0.14700	0.0355	N	0.25647	0.755	0.37633	D	0.921731	B	0.06786	0.001	B	0.12837	0.008	T	0.09552	-1.0669	10	0.27785	T	0.31	-18.3019	12.3092	0.54920	0.0:0.9176:0.0:0.0823	.	1793	Q4ZG55	GREB1_HUMAN	V	1793;1793;791	ENSP00000370896:A1793V;ENSP00000234142:A1793V;ENSP00000379429:A791V	ENSP00000234142:A1793V	A	+	2	0	GREB1	11695324	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	4.544000	0.60691	2.186000	0.69663	0.557000	0.71058	GCC		0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		58	345	0	0	0	1	0	58	345					T	11777873	C	T	11777873	3	4	79	1	0	0	0	0	1	0	0	0	6790	739	26	2	5604	2	GREB1	2	11777873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21094	11777873	231421500	2167	12484											
LPIN1	23175	broad.mit.edu	37	chr2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaatgaagaagacctggaGaccttaggagcagcagcgcc	14	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000256720.2	+	7	1140	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	349					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGACCTGGAGACCTTAGGAG	0.522																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1045-1047)gaG>gaT		lipin 1							86	87	87					2																	11922524		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11922524G>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1047G>T	2.37:g.11922524G>T	ENSP00000256720:p.Glu349Asp					LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D	p.E349D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	7	1140	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		349					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1047G>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269071	0.23221	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	.	0.518813	0.22091	N	0.064743	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16166	0.016;0.002;0.011	B;B;B	0.17979	0.02;0.006;0.019	T	0.58399	-0.7643	10	0.25106	T	0.35	-25.3093	11.3028	0.49316	0.0708:0.1284:0.8008:0.0	.	434;349;391	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	434;391;391;355;349;79	ENSP00000397908:E434D;ENSP00000379405:E391D;ENSP00000379406:E391D;ENSP00000401522:E355D;ENSP00000256720:E349D;ENSP00000379404:E79D	ENSP00000256720:E349D	E	+	3	2	LPIN1	11839975	1.000000	0.71417	0.847000	0.33407	0.018000	0.09664	3.696000	0.54757	2.757000	0.94681	0.655000	0.94253	GAG		0.522	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		86	272	1	0	2.93434e-44	1	3.58945e-44	86	272					T	11922524	G	T	11922524	3	4	79	1	0	0	0	0	1	0	0	0	8956	933	33	3	1069	3	LPIN1	2	11922524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144651	11922524	231276849	2168	12485											
LPIN1	23175	broad.mit.edu	37	chr2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcccgtgccatcgggAtggcggacatgacgcggggc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000256720.2	+	17	2278	c.2185A>C	c.(2185-2187)Atg>Ctg	p.M729L	LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	729	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCATCGGGATGGCGGACAT	0.542																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2185-2187)Atg>Ctg		lipin 1							56	56	56					2																	11955257		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955257A>C	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2185A>C	2.37:g.11955257A>C	ENSP00000256720:p.Met729Leu					LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L	p.M729L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2278	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		729			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2185A>C	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886297	0.91814	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.95	0.65309	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.41573	1.285	0.80722	D	1	P;D;B	0.67145	0.853;0.996;0.096	P;D;B	0.80764	0.717;0.994;0.345	T	0.81385	-0.0957	10	0.49607	T	0.09	-35.1722	14.6363	0.68692	1.0:0.0:0.0:0.0	.	230;814;729	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	814;771;735;729;459;230	ENSP00000397908:M814L;ENSP00000379406:M771L;ENSP00000401522:M735L;ENSP00000256720:M729L;ENSP00000379404:M459L;ENSP00000386120:M230L	ENSP00000256720:M729L	M	+	1	0	LPIN1	11872708	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.780000	0.91799	1.860000	0.53959	0.460000	0.39030	ATG		0.542	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		8	293	0	0	0	1	0	8	293					C	11955257	A	C	11955257	3	2	79	1	0	0	0	0	1	0	0	0	8956	333	12	4	2247	4	LPIN1	2	11955257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32733	11955257	231244116	2169	12486											
TRIB2	28951	broad.mit.edu	37	chr2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatccttggttttctacaGattttagcgtctcgaattca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(931-933)Gat>Aat		tribbles pseudokinase 2							68	67	67					2																	12880819		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880819G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.931G>A	2.37:g.12880819G>A	ENSP00000155926:p.Asp311Asn					TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	p.D311N	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2350	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		311						Missense_Mutation	SNP	ENST00000155926.4	37	c.931G>A	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312466	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48836	0.82;0.8	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.212067	0.49916	D	0.000128	T	0.33847	0.0877	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07290	-1.0780	10	0.27785	T	0.31	-21.7034	19.354	0.94404	0.0:0.0:1.0:0.0	.	311	Q92519	TRIB2_HUMAN	N	311;175	ENSP00000155926:D311N;ENSP00000370874:D175N	ENSP00000155926:D311N	D	+	1	0	TRIB2	12798270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.820000	0.97059	0.650000	0.86243	GAT		0.527	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		87	219	0	0	0	1	0	87	219					A	12880819	G	A	12880819	3	1	79	1	0	0	0	0	1	0	0	0	16536	942	33	2	941	2	TRIB2	2	12880819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925562	12880819	230318554	2170	12487											
FAM84A	151354	broad.mit.edu	37	chr2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacccacctcaactacaGcgagttgcccacaggggacc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(40-42)aGc>aTc		family with sequence similarity 84, member A							28	32	31					2																	14774144		2203	4300	6503	SO:0001583	missense	151354							g.chr2:14774144G>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.41G>T	2.37:g.14774144G>T	ENSP00000295092:p.Ser14Ile					FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	329	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		14					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.41G>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242236	0.79912	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.04119	3.7;3.7	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.72032	D	0.01	-21.0837	17.3365	0.87282	0.0:0.0:1.0:0.0	.	14	Q96KN4	FA84A_HUMAN	I	14	ENSP00000295092:S14I;ENSP00000330681:S14I	ENSP00000295092:S14I	S	+	2	0	FAM84A	14691595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.900000	0.63252	2.369000	0.80426	0.655000	0.94253	AGC		0.617	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		26	154	1	0	9.57634e-11	1	1.01752e-10	26	154					T	14774144	G	T	14774144	3	4	79	1	0	0	0	0	1	0	0	0	5666	971	34	3	43	3	FAM84A	2	14774144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1893325	14774144	228425229	2171	12488											
FAM84A	151354	broad.mit.edu	37	chr2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcggtcaccgcgctgCcagcgctctgcgaacccggc	12	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(349-351)Cca>Aca		family with sequence similarity 84, member A							7	9	8					2																	14774452		2143	4188	6331	SO:0001583	missense	151354							g.chr2:14774452C>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.349C>A	2.37:g.14774452C>A	ENSP00000295092:p.Pro117Thr					FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	637	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		117					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.349C>A	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745272|3.745272	0.69418|0.69418	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03635	.|3.86;3.86	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.43152|0.43152	1.355|1.355	0.39240|0.39240	D|D	0.963845|0.963845	.|P	.|0.49447	.|0.924	.|P	.|0.49597	.|0.616	T|T	0.16689|0.16689	-1.0394|-1.0394	6|10	0.87932|0.52906	D|T	0|0.07	-20.9794|-20.9794	11.112|11.112	0.48239|0.48239	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|117	.|Q96KN4	.|FA84A_HUMAN	D|T	24|117	.|ENSP00000295092:P117T;ENSP00000330681:P117T	ENSP00000443261:A24D|ENSP00000295092:P117T	A|P	+|+	2|1	0|0	FAM84A|FAM84A	14691903|14691903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.210000|3.210000	0.51129|0.51129	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.706	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		18	66	1	0	3.52763e-06	1	3.62938e-06	18	66					A	14774452	C	A	14774452	3	1	79	1	0	0	0	0	1	0	0	0	5666	739	26	3	351	3	FAM84A	2	14774452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	14774452	228424921	2172	12489											
FAM84A	151354	broad.mit.edu	37	chr2	14774697	14774697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcagaacgcctgcggCcacctgggcctcaagagcga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	ENST00000295092.2	+	2	882	c.594C>T	c.(592-594)ggC>ggT	p.G198G	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Silent_p.G198G	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	198										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGCCTGCGGCCACCTGGGCC	0.687																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(592-594)ggC>ggT		family with sequence similarity 84, member A							11	13	12					2																	14774697		2187	4273	6460	SO:0001819	synonymous_variant	151354							g.chr2:14774697C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.594C>T	2.37:g.14774697C>T						FAM84A_ENST00000331243.4_Silent_p.G198G	p.G198G	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	882	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		198					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	37	c.594C>T	CCDS1684.1																																																																																				0.687	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		13	30	0	0	0	1	0	13	30					T	14774697	C	T	14774697	2	4	79	1	0	0	0	0	0	0	0	1	5666	726	26	2		2	FAM84A	2	14774697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	14774697	228424676	2173	12490											
FAM84A	151354	broad.mit.edu	37	chr2	14774877	14774877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggtccacaccgccagGtttcacagcctggaagacct	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Silent_p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(772-774)agG>agA		family with sequence similarity 84, member A							38	38	38					2																	14774877		2203	4300	6503	SO:0001819	synonymous_variant	151354							g.chr2:14774877G>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.774G>A	2.37:g.14774877G>A						FAM84A_ENST00000331243.4_Silent_p.R258R	p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	1062	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		258					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	37	c.774G>A	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.364511|1.364511	0.24684|0.24684	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000359969	.|.	.|.	.|.	4.14|4.14	1.01|1.01	0.19927|0.19927	.|.	.|0.561393	.|0.18805	.|N	.|0.130682	.|T	.|0.48519	.|0.1504	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|6	.|0.10377	.|T	.|0.69	.|-3.1899	13.8597|13.8597	0.63552|0.63552	0.0:0.4444:0.5556:0.0|0.0:0.4444:0.5556:0.0	.|.	.|.	.|.	.|.	.|D	-1|203	.|.	.|ENSP00000353054:G203D	.|G	+|+	.|2	.|0	FAM84A|FAM84A	14692328|14692328	0.982000|0.982000	0.34865|0.34865	0.964000|0.964000	0.40570|0.40570	0.994000|0.994000	0.84299|0.84299	0.211000|0.211000	0.17474|0.17474	0.073000|0.073000	0.16731|0.16731	0.455000|0.455000	0.32223|0.32223	.|GGT		0.657	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		58	133	0	0	0	1	0	58	133					A	14774877	G	A	14774877	2	1	79	1	0	0	0	0	0	0	0	1	5666	1252	44	2		2	FAM84A	2	14774877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180	14774877	228424496	2174	12491											
NBAS	51594	broad.mit.edu	37	chr2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagaaggagagacccgGcttcggcttcatggccggcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2343					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGACCCGGCTTCGGCTTC	0.647																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(7027-7029)gCc>gTc		neuroblastoma amplified sequence							38	44	42					2																	15307260		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307260G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7028C>T	2.37:g.15307260G>A	ENSP00000281513:p.Ala2343Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	p.A2343V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			52	7053	-			2343					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.7028C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897598|3.897598	0.72639|0.72639	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.35973|.	1.28;1.55|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.74748|0.74748	-0.3560|-0.3560	10|5	0.87932|.	D|.	0|.	.|.	18.0294|18.0294	0.89278|0.89278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2223;2343|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	2223;2343;156|1391	ENSP00000413201:A2223V;ENSP00000281513:A2343V|.	ENSP00000281513:A2343V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15224711|15224711	1.000000|1.000000	0.71417|0.71417	0.572000|0.572000	0.28498|0.28498	0.009000|0.009000	0.06853|0.06853	9.190000|9.190000	0.94934|0.94934	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.647	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		82	248	0	0	0	1	0	82	248					A	15307260	G	A	15307260	3	1	79	1	0	0	0	0	1	0	0	0	10227	1203	42	2	91	2	NBAS	2	15307260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532383	15307260	227892113	2175	12492											
NBAS	51594	broad.mit.edu	37	chr2	15330414	15330414	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttttcataggtggccaAgcttgcaaaagtaaaaccaa	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2182					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTGGCCAAGCTTGCAAAA	0.378																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6544-6546)gcT>gcG		neuroblastoma amplified sequence							115	115	115					2																	15330414		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15330414A>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6546T>G	2.37:g.15330414A>C						NBAS_ENST00000441750.1_Silent_p.A2062A	p.A2182A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			49	6571	-			2182					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6546T>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	6.795	0.515612	0.12944	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	2.0951	0.03666	0.1547:0.3135:0.2992:0.2326	.	.	.	.	R	1230	.	.	L	-	2	0	NBAS	15247865	0.004000	0.15560	0.132000	0.22025	0.631000	0.37964	-1.528000	0.02225	-3.487000	0.00154	0.528000	0.53228	CTT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		46	273	0	0	0	1	0	46	273					C	15330414	A	C	15330414	2	2	79	1	0	0	0	0	0	0	0	1	10227	59	3	4		4	NBAS	2	15330414	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23154	15330414	227868959	2176	12493											
NBAS	51594	broad.mit.edu	37	chr2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccatgagctcttgaCgagtggccaagtcctggtaa	11	10	1	2	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4000-4002)cGt>cAt		neuroblastoma amplified sequence		C	HIS/ARG	0,4406		0,0,2203	179	170	173		4001	5	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493765C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His					NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	p.R1334H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			34	4026	-			1334					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4001G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		242	598	0	0	0	1	0	242	598					T	15493765	C	T	15493765	3	4	79	1	0	0	0	0	1	0	0	0	10227	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163351	15493765	227705608	2177	12494											
NBAS	51594	broad.mit.edu	37	chr2	15534373	15534373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagtgtgcctcgtcaAtctaaccatcagcttgcgtg	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	ENST00000281513.5	-	28	3260	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_ENST00000441750.1_Silent_p.L959L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1079					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCCTCGTCAATCTAACCATC	0.353																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3235-3237)Ttg>Ctg		neuroblastoma amplified sequence							49	46	47					2																	15534373		2201	4297	6498	SO:0001819	synonymous_variant	51594							g.chr2:15534373A>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3235T>C	2.37:g.15534373A>G						NBAS_ENST00000441750.1_Silent_p.L959L	p.L1079L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			28	3260	-			1079					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3235T>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270526	0.23221	.	.	ENSG00000151779	ENST00000429842	.	.	.	5.48	-0.858	0.10689	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	.	10.5418	0.45037	0.5372:0.0:0.4628:0.0	.	.	.	.	T	176	.	.	I	-	2	0	NBAS	15451824	0.000000	0.05858	0.979000	0.43373	0.996000	0.88848	-0.341000	0.07811	-0.117000	0.11872	0.533000	0.62120	ATT		0.353	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		24	107	0	0	0	1	0	24	107					G	15534373	A	G	15534373	2	3	79	1	0	0	0	0	0	0	0	1	10227	98	4	4		4	NBAS	2	15534373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40608	15534373	227665000	2178	12495											
NBAS	51594	broad.mit.edu	37	chr2	15555769	15555769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcattagccacaccaggCgactgtttctcacaacgatg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	946					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCACACCAGGCGACTGTTTCT	0.388																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2836-2838)tcG>tcA		neuroblastoma amplified sequence							86	88	87					2																	15555769		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15555769C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2838G>A	2.37:g.15555769C>T						NBAS_ENST00000441750.1_Intron	p.S946S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2863	-			946					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2838G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874693	0.17395	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	0.815	0.18763	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.1483	0.06479	0.5378:0.1105:0.2501:0.1016	.	.	.	.	T	44	.	.	A	-	1	0	NBAS	15473220	0.667000	0.27484	0.840000	0.33206	0.899000	0.52679	0.235000	0.17948	0.212000	0.20703	-0.271000	0.10264	GCC		0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		136	374	0	0	0	1	0	136	374					T	15555769	C	T	15555769	2	4	79	1	0	0	0	0	0	0	0	1	10227	755	27	1		1	NBAS	2	15555769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21396	15555769	227643604	2179	12496											
NBAS	51594	broad.mit.edu	37	chr2	15564475	15564475	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctatttcctctgctctggtCtgataccagtccataacctt	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15564475C>A	ENST00000281513.5	-	23	2566	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	847					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q847H(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGCTCTGGTCTGATACCAGT	0.478																																						ENST00000281513.5																			2	Substitution - Missense(2)	p.Q847H(2)	central_nervous_system(2)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2539-2541)caG>caT		neuroblastoma amplified sequence							220	161	181					2																	15564475		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15564475C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2541G>T	2.37:g.15564475C>A	ENSP00000281513:p.Gln847His					NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			23	2566	-			847					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2541G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481462|2.481462	0.44147|0.44147	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.27256|.	2.29;2.29;1.68|.	5.37|5.37	2.34|2.34	0.29019|0.29019	Secretory pathway Sec39 (1);|.	0.769193|.	0.13456|.	N|.	0.386524|.	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B|.	0.41569|.	0.755;0.024|.	B;B|.	0.37346|.	0.247;0.057|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.87932|.	D|.	0|.	.|.	7.3536|7.3536	0.26706|0.26706	0.1232:0.6827:0.1198:0.0744|0.1232:0.6827:0.1198:0.0744	.|.	847;847|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	847;847;14|15	ENSP00000413201:Q847H;ENSP00000281513:Q847H;ENSP00000396501:Q14H|.	ENSP00000281513:Q847H|.	Q|R	-|-	3|2	2|0	NBAS|NBAS	15481926|15481926	0.963000|0.963000	0.33076|0.33076	0.042000|0.042000	0.18584|0.18584	0.982000|0.982000	0.71751|0.71751	1.543000|1.543000	0.36147|0.36147	1.216000|1.216000	0.43427|0.43427	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		11	382	1	0	3.86212e-05	1	3.93988e-05	11	382					A	15564475	C	A	15564475	3	1	79	1	0	0	0	0	1	0	0	0	10227	912	32	3	4694	3	NBAS	2	15564475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	15564475	227634898	2180	12497											
NBAS	51594	broad.mit.edu	37	chr2	15601859	15601859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattctgatttctgaatttCttaaagaattcagcatcata	4	6	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	718					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAATTTCTTAAAGAATT	0.308																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2152-2154)aaG>aaA		neuroblastoma amplified sequence							28	29	29					2																	15601859		2201	4289	6490	SO:0001819	synonymous_variant	51594							g.chr2:15601859C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2154G>A	2.37:g.15601859C>T						NBAS_ENST00000441750.1_Silent_p.K718K	p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			20	2179	-			718					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2154G>A	CCDS1685.1																																																																																				0.308	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		21	102	0	0	0	1	0	21	102					T	15601859	C	T	15601859	2	4	79	1	0	0	0	0	0	0	0	1	10227	912	32	2		2	NBAS	2	15601859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37384	15601859	227597514	2181	12498											
MYCN	4613	broad.mit.edu	37	chr2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattcaccatcactgtgCgtcccaagaacgcagccctg	7	17	2	1	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CATCACTGTGCGTCCCAAGAA	0.582			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(904-906)Cgt>Tgt		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog		C	CYS/ARG	0,4406		0,0,2203	103	83	90		904	4.1	0.9	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCN	NM_005378.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/465	16085728	1,13005	2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085728C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.904C>T	2.37:g.16085728C>T	ENSP00000281043:p.Arg302Cys						p.R302C	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1201	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		302					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.904C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	MYCN	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT		0.582	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		36	178	0	0	0	1	0	36	178					T	16085728	C	T	16085728	3	4	79	1	0	0	0	0	1	0	0	0	10062	768	27	1	910	1	MYCN	2	16085728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483869	16085728	227113645	2182	12499											
FAM49A	81553	broad.mit.edu	37	chr2	16742781	16742781	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtagtagctgaagtcattCtgaatagccgggttcctcat	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16742781C>A	ENST00000381323.3	-	7	676	c.456G>T	c.(454-456)caG>caT	p.Q152H	FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H|FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	152						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGAAGTCATTCTGAATAGCCG	0.493																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(454-456)caG>caT		family with sequence similarity 49, member A							118	104	109					2																	16742781		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16742781C>A	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.456G>T	2.37:g.16742781C>A	ENSP00000370724:p.Gln152His					FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H|FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H	p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		7	676	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		152					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.456G>T	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599284	0.87055	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.56941	0.43;0.43;0.43	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78178	-0.2305	10	0.87932	D	0	-22.0088	9.8384	0.40985	0.0:0.8495:0.0:0.1505	.	152	Q9H0Q0	FA49A_HUMAN	H	152	ENSP00000370724:Q152H;ENSP00000384771:Q152H;ENSP00000347744:Q152H	ENSP00000347744:Q152H	Q	-	3	2	FAM49A	16606262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	CAG		0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		9	256	1	0	7.48243e-07	1	7.73841e-07	9	256					A	16742781	C	A	16742781	3	1	79	1	0	0	0	0	1	0	0	0	5600	912	32	3	539	3	FAM49A	2	16742781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657053	16742781	226456592	2183	12500											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaattttccacattcaCaacttgttgaggacaactca	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	718										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCACATTCACAACTTGTTGA	0.318																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2152-2154)Gtg>Atg		RAD51 associated protein 2							80	75	77					2																	17697531		1823	4078	5901	SO:0001583	missense	729475							g.chr2:17697531C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2152G>A	2.37:g.17697531C>T	ENSP00000382030:p.Val718Met						p.V718M	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		718						Missense_Mutation	SNP	ENST00000399080.2	37	c.2152G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486189	0.12641	.	.	ENSG00000214842	ENST00000399080	T	0.23552	1.9	4.42	-3.24	0.05094	.	.	.	.	.	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.26408	T	0.33	0.3519	5.3879	0.16227	0.0:0.2282:0.2636:0.5082	.	718	Q09MP3	R51A2_HUMAN	M	718	ENSP00000382030:V718M	ENSP00000382030:V718M	V	-	1	0	RAD51AP2	17561012	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-0.656000	0.05380	-0.383000	0.06682	GTG		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		97	317	0	0	0	1	0	97	317					T	17697531	C	T	17697531	3	4	79	1	0	0	0	0	1	0	0	0	13037	478	17	2	1339	2	RAD51AP2	2	17697531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954750	17697531	225501842	2184	12501											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698100	17698100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacagcaggttaaaataCtattatcttttttatttcct	4	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	ENST00000399080.2	-	1	1606	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	528										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTTAAAATACTATTATCTTT	0.239																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1582-1584)aGt>aAt		RAD51 associated protein 2							17	16	17					2																	17698100		1743	3971	5714	SO:0001583	missense	729475							g.chr2:17698100C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1583G>A	2.37:g.17698100C>T	ENSP00000382030:p.Ser528Asn						p.S528N	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1606	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		528						Missense_Mutation	SNP	ENST00000399080.2	37	c.1583G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349205	0.05173	.	.	ENSG00000214842	ENST00000399080	T	0.24538	1.85	4.69	-1.83	0.07833	.	.	.	.	.	T	0.12561	0.0305	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.27938	-1.0059	9	0.48119	T	0.1	0.6513	6.2097	0.20621	0.0:0.3851:0.1301:0.4848	.	528	Q09MP3	R51A2_HUMAN	N	528	ENSP00000382030:S528N	ENSP00000382030:S528N	S	-	2	0	RAD51AP2	17561581	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.121000	0.10643	-0.266000	0.09339	0.563000	0.77884	AGT		0.239	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		10	50	0	0	0	1	0	10	50					T	17698100	C	T	17698100	3	4	79	1	0	0	0	0	1	0	0	0	13037	565	20	2	1908	2	RAD51AP2	2	17698100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	17698100	225501273	2185	12502											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcaaaatatgtctaaCgttacagtcccagttttgag	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	399										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGTCTAACGTTACAGTCC	0.328																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1195-1197)Gtt>Att		RAD51 associated protein 2							54	53	53					2																	17698488		1805	4076	5881	SO:0001583	missense	729475							g.chr2:17698488C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1195G>A	2.37:g.17698488C>T	ENSP00000382030:p.Val399Ile						p.V399I	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1218	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		399						Missense_Mutation	SNP	ENST00000399080.2	37	c.1195G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788986	0.02884	.	.	ENSG00000214842	ENST00000399080	T	0.25912	1.77	4.22	0.373	0.16178	.	.	.	.	.	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.05620	T	0.96	.	5.0445	0.14477	0.0:0.3547:0.1593:0.486	.	399	Q09MP3	R51A2_HUMAN	I	399	ENSP00000382030:V399I	ENSP00000382030:V399I	V	-	1	0	RAD51AP2	17561969	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.865000	0.27940	0.245000	0.21373	-0.440000	0.05779	GTT		0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		46	256	0	0	0	1	0	46	256					T	17698488	C	T	17698488	3	4	79	1	0	0	0	0	1	0	0	0	13037	536	19	1	2296	1	RAD51AP2	2	17698488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	17698488	225500885	2186	12503											
VSNL1	7447	broad.mit.edu	37	chr2	17773500	17773500	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatttcagcagctctatgtGaaggtaagttgtttttcaac	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(157-159)gtG>gtA		visinin-like 1							142	135	137					2																	17773500		2203	4300	6503	SO:0001819	synonymous_variant	7447						calcium ion binding	g.chr2:17773500G>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.159G>A	2.37:g.17773500G>A						VSNL1_ENST00000404666.2_Silent_p.V53V|VSNL1_ENST00000295156.4_Silent_p.V53V	p.V53V			P62760	VISL1_HUMAN			2	684	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		53			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	c.159G>A	CCDS1689.1																																																																																				0.398	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		57	673	0	0	0	1	0	57	673					A	17773500	G	A	17773500	2	1	79	1	0	0	0	0	0	0	0	1	17281	1277	45	2		2	VSNL1	2	17773500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75012	17773500	225425873	2187	12504											
GEN1	348654	broad.mit.edu	37	chr2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaacaaggataaattgGtgaaggttatcaggtaccaa	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V343M	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	343					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATAAATTGGTGAAGGTTAT	0.274								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Gtg>Atg	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							34	36	35					2																	17954522		2198	4290	6488	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954522G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1027G>A	2.37:g.17954522G>A	ENSP00000370653:p.Val343Met					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V343M	p.V343M	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			10	1241	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		343					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1027G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476207	0.26511	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42900	0.96;0.96;0.96	5.66	1.63	0.23807	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	1.197160	0.06327	N	0.705530	T	0.38348	0.1037	L	0.57536	1.79	0.09310	N	1	P	0.47106	0.89	B	0.42522	0.39	T	0.26121	-1.0112	10	0.44086	T	0.13	-0.1524	2.6399	0.04968	0.238:0.1369:0.5007:0.1244	.	343	Q17RS7	GEN_HUMAN	M	343;343;114	ENSP00000318977:V343M;ENSP00000370653:V343M;ENSP00000431542:V114M	ENSP00000318977:V343M	V	+	1	0	GEN1	17818003	0.134000	0.22483	0.131000	0.22000	0.868000	0.49771	0.403000	0.20982	0.264000	0.21851	0.650000	0.86243	GTG		0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		12	83	0	0	0	1	0	12	83					A	17954522	G	A	17954522	3	1	79	1	0	0	0	0	1	0	0	0	6364	1261	44	2	1061	2	GEN1	2	17954522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181022	17954522	225244851	2188	12505											
GEN1	348654	broad.mit.edu	37	chr2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcagaattgttaagactCgaatcagaaatggagttcat	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1216-1218)Cga>Tga	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							77	84	82					2																	17959282		2199	4269	6468	SO:0001587	stop_gained	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17959282C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1216C>T	2.37:g.17959282C>T	ENSP00000370653:p.Arg406*					GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	p.R406*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			12	1430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		406					Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	37	c.1216C>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	38	6.665361	0.97747	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.21	3.34	0.38264	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2737	12.8916	0.58073	0.4272:0.5728:0.0:0.0	.	.	.	.	X	406;406;177;43	.	ENSP00000318977:R406X	R	+	1	2	GEN1	17822763	0.979000	0.34478	0.687000	0.30102	0.853000	0.48598	2.467000	0.45093	0.637000	0.30526	-0.181000	0.13052	CGA		0.269	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		69	263	0	0	0	1	0	69	263					T	17959282	C	T	17959282	4	4	79	1	0	0	0	0	0	1	0	0	6364	876	31	1	1258	1	GEN1	2	17959282	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4760	17959282	225240091	2189	12506											
MSGN1	343930	broad.mit.edu	37	chr2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgccctgtgagcacgGcggggccagcagtgggggca	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	72					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(214-216)gGc>gTc		mesogenin 1							39	46	44					2																	17998000		1926	4114	6040	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998000G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.215G>T	2.37:g.17998000G>T	ENSP00000281047:p.Gly72Val						p.G72V	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	238	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		72						Missense_Mutation	SNP	ENST00000281047.3	37	c.215G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266048	0.10294	.	.	ENSG00000151379	ENST00000281047	T	0.16196	2.36	5.25	2.36	0.29203	.	0.451160	0.23656	N	0.045876	T	0.14184	0.0343	L	0.43152	1.355	0.18873	N	0.999986	B	0.29085	0.232	B	0.32533	0.147	T	0.22765	-1.0207	10	0.26408	T	0.33	-4.4513	8.327	0.32162	0.2753:0.0:0.7247:0.0	.	72	A6NI15	MSGN1_HUMAN	V	72	ENSP00000281047:G72V	ENSP00000281047:G72V	G	+	2	0	MSGN1	17861481	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	1.157000	0.31724	0.316000	0.23135	-0.345000	0.07892	GGC		0.622	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		93	440	1	0	3.77759e-48	1	4.65876e-48	93	440					T	17998000	G	T	17998000	3	4	79	1	0	0	0	0	1	0	0	0	9910	1203	42	3	217	3	MSGN1	2	17998000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38718	17998000	225201373	2190	12507											
MSGN1	343930	broad.mit.edu	37	chr2	17998310	17998310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtacaccatcaagtacatCggggaactcacagacctcct	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998310C>T	ENST00000281047.3	+	1	548	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	175	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(523-525)atC>atT		mesogenin 1							43	48	46					2																	17998310		2053	4197	6250	SO:0001819	synonymous_variant	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998310C>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.525C>T	2.37:g.17998310C>T							p.I175I	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	548	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		175			Helix-loop-helix motif.			Silent	SNP	ENST00000281047.3	37	c.525C>T	CCDS42657.1																																																																																				0.597	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		16	313	0	0	0	1	0	16	313					T	17998310	C	T	17998310	2	4	79	1	0	0	0	0	0	0	0	1	9910	874	31	1		1	MSGN1	2	17998310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310	17998310	225201063	2191	12508											
MSGN1	343930	broad.mit.edu	37	chr2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtacatcggggaactcacaGacctccttaaccgcggcaga	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	180					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(538-540)Gac>Tac		mesogenin 1							40	43	42					2																	17998323		2048	4191	6239	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998323G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.538G>T	2.37:g.17998323G>T	ENSP00000281047:p.Asp180Tyr						p.D180Y	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	561	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		180						Missense_Mutation	SNP	ENST00000281047.3	37	c.538G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958390	0.74016	.	.	ENSG00000151379	ENST00000281047	D	0.97710	-4.5	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.147023	0.64402	D	0.000012	D	0.96694	0.8921	N	0.19112	0.55	0.53688	D	0.999972	D	0.76494	0.999	P	0.60789	0.879	D	0.96618	0.9457	10	0.66056	D	0.02	-9.2098	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	180	A6NI15	MSGN1_HUMAN	Y	180	ENSP00000281047:D180Y	ENSP00000281047:D180Y	D	+	1	0	MSGN1	17861804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.344000	0.72991	2.837000	0.97791	0.655000	0.94253	GAC		0.582	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		47	275	1	0	2.0833e-19	1	2.32388e-19	47	275					T	17998323	G	T	17998323	3	4	79	1	0	0	0	0	1	0	0	0	9910	942	33	3	540	3	MSGN1	2	17998323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	17998323	225201050	2192	12509											
KCNS3	3790	broad.mit.edu	37	chr2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagtttgacacactgCgatttggtcagctccggaag	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	163					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(487-489)Cga>Tga		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							64	69	67					2																	18112762		2203	4300	6503	SO:0001587	stop_gained	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112762C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.487C>T	2.37:g.18112762C>T	ENSP00000385968:p.Arg163*					KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron	p.R163*			Q9BQ31	KCNS3_HUMAN			3	938	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		163					D6W520|O43651|Q4ZFY1|Q96B56	Nonsense_Mutation	SNP	ENST00000403915.1	37	c.487C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995490	0.54147	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.88	0.769	0.18492	.	0.362862	0.30602	N	0.009277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7012	0.12828	0.4916:0.2703:0.0:0.2381	.	.	.	.	X	163	.	ENSP00000305824:R163X	R	+	1	2	KCNS3	17976243	1.000000	0.71417	0.139000	0.22197	0.009000	0.06853	2.131000	0.42074	-0.144000	0.11314	0.655000	0.94253	CGA		0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		30	297	0	0	0	1	0	30	297					T	18112762	C	T	18112762	4	4	79	1	0	0	0	0	0	1	0	0	8120	760	27	1	489	1	KCNS3	2	18112762	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114439	18112762	225086611	2193	12510											
KCNS3	3790	broad.mit.edu	37	chr2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaggacatttgtaacaCcacctccttggagaattgca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	482					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1444-1446)aCc>aTc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							84	80	81					2																	18113720		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113720C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1445C>T	2.37:g.18113720C>T	ENSP00000385968:p.Thr482Ile					KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I|KCNS3_ENST00000465292.1_Intron	p.T482I			Q9BQ31	KCNS3_HUMAN			3	1896	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		482					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.1445C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325134	0.05350	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97041	-4.22;-4.22	5.91	1.86	0.25419	.	1.066720	0.07169	N	0.852063	D	0.94456	0.8216	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	D	0.85296	0.1070	10	0.38643	T	0.18	.	6.756	0.23514	0.0:0.7048:0.1209:0.1743	.	482	Q9BQ31	KCNS3_HUMAN	I	482	ENSP00000385968:T482I;ENSP00000305824:T482I	ENSP00000305824:T482I	T	+	2	0	KCNS3	17977201	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.290000	0.18975	0.052000	0.16007	0.655000	0.94253	ACC		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		115	285	0	0	0	1	0	115	285					T	18113720	C	T	18113720	3	4	79	1	0	0	0	0	1	0	0	0	8120	507	18	2	1447	2	KCNS3	2	18113720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	18113720	225085653	2194	12511											
NT5C1B	93034	broad.mit.edu	37	chr2	18767552	18767552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcctgcttctaggctcatCtatggatggagccttggtgg	13	9	3	0	rs201205997		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18767552C>A	ENST00000359846.2	-	4	483	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	NT5C1B_ENST00000304081.4_Missense_Mutation_p.D76Y|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	136	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTAGGCTCATCTATGGATGGA	0.448																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(226-228)Gat>Tat		5'-nucleotidase, cytosolic IB							153	140	144					2																	18767552		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18767552C>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.406G>T	2.37:g.18767552C>A	ENSP00000352904:p.Asp136Tyr					NT5C1B_ENST00000359846.2_Missense_Mutation_p.D136Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y	p.D76Y	NM_033253.3	NP_150278.2					3	326	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.226G>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748697	0.30955	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91180	-2.8	4.47	4.47	0.54385	.	1.133610	0.06481	N	0.732866	D	0.92586	0.7645	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.971;0.999;1.0;1.0	D;D;P;D;P;D;D;D	0.71184	0.959;0.959;0.87;0.959;0.62;0.939;0.937;0.972	D	0.84068	0.0378	10	0.87932	D	0	-0.7314	12.9491	0.58389	0.0:1.0:0.0:0.0	.	119;153;76;119;76;76;136;136	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Y	136;76;76;136;153	ENSP00000412639:D76Y	ENSP00000305979:D76Y	D	-	1	0	NT5C1B-RDH14;NT5C1B	18631033	0.232000	0.23762	0.034000	0.17996	0.028000	0.11728	3.018000	0.49625	2.777000	0.95525	0.655000	0.94253	GAT		0.448	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			134	372	1	0	9.12202e-81	1	1.16676e-80	134	372					A	18767552	C	A	18767552	3	1	79	1	0	0	0	0	1	0	0	0	10728	913	32	3	1454	3	NT5C1B	2	18767552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	653832	18767552	224431821	2195	12512											
OSR1	130497	broad.mit.edu	37	chr2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggacttggtgaagtggCggccacagaacttgcagacg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000272223.2	-	2	889	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(544-546)cGc>cAc		odd-skipped related transciption factor 1							122	116	118					2																	19553022		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553022C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.545G>A	2.37:g.19553022C>T	ENSP00000272223:p.Arg182His					OSR1_ENST00000272223.2_Missense_Mutation_p.R182H	p.R182H			Q8TAX0	OSR1_HUMAN			1	3655	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	182					B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.545G>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914406	0.92178	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.03920	3.76;3.76	5.68	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00051	-1.2195	9	.	.	.	-30.0324	13.7771	0.63059	0.0:0.9258:0.0:0.0742	.	182	Q8TAX0	OSR1_HUMAN	H	182	ENSP00000272223:R182H;ENSP00000441801:R182H	.	R	-	2	0	OSR1	19416503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.685000	0.91497	0.650000	0.86243	CGC		0.567	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		61	618	0	0	0	1	0	61	618					T	19553022	C	T	19553022	3	4	79	1	0	0	0	0	1	0	0	0	11335	768	27	1	263	1	OSR1	2	19553022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785470	19553022	223646351	2196	12513											
WDR35	57539	broad.mit.edu	37	chr2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctgacaaacatttgtgCtatttcctgtacaaacaaaa	4	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	863					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2587-2589)Gca>Aca		WD repeat domain 35							111	96	101					2																	20133266		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20133266C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2587G>A	2.37:g.20133266C>T	ENSP00000314444:p.Ala863Thr					WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	p.A863T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			23	2702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		863					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2587G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567960	0.65651	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	.	0.058201	0.64402	D	0.000002	T	0.55737	0.1939	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58820	0.843;0.846	T	0.61618	-0.7026	10	0.87932	D	0	-13.325	18.2704	0.90066	0.0:1.0:0.0:0.0	.	852;863	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	863;852	ENSP00000314444:A863T;ENSP00000281405:A852T	ENSP00000281405:A852T	A	-	1	0	WDR35	19996747	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.450000	0.80656	2.635000	0.89317	0.563000	0.77884	GCA		0.353	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		73	190	0	0	0	1	0	73	190					T	20133266	C	T	20133266	3	4	79	1	0	0	0	0	1	0	0	0	17343	797	28	2	982	2	WDR35	2	20133266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580244	20133266	223066107	2197	12514											
SDC1	6382	broad.mit.edu	37	chr2	20405117	20405117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcacctgcacctgagccGgagaagttgtcagagtcatc	10	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000254351.4	-	2	379	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000381150.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	45					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(133-135)tcC>tcT		syndecan 1							89	91	90					2																	20405117		2203	4300	6503	SO:0001819	synonymous_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405117G>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.135C>T	2.37:g.20405117G>A						SDC1_ENST00000254351.4_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S	p.S45S	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	525	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		45					D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.135C>T	CCDS1697.1																																																																																				0.532	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		71	670	0	0	0	1	0	71	670					A	20405117	G	A	20405117	2	1	79	1	0	0	0	0	0	0	0	1	14001	1103	39	1		1	SDC1	2	20405117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271851	20405117	222794256	2198	12515											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	492						7	492	---	---	---	---	-	20482979	GCT	-	20482977	7	5	79	1	0	1	0	1	0	0	0	0	12876	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	77860	20482977	222716396	2199	12516											
PUM2	23369	broad.mit.edu	37	chr2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttaaaatcttacttaaaaTctttgcaatcggcatccatt	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000361078.2	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	171	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTAAAATCTTTGCAATC	0.323																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(511-513)gAt>gCt		pumilio RNA-binding family member 2							93	92	93					2																	20511261		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511261T>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.512A>C	2.37:g.20511261T>G	ENSP00000354370:p.Asp171Ala					PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A	p.D171A			Q8TB72	PUM2_HUMAN			4	534	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		171			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.512A>C		.	.	.	.	.	.	.	.	.	.	T	25.8	4.672316	0.88348	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21361	2.3;2.57;2.52;2.01;2.3;2.27	5.84	5.84	0.93424	.	0.041485	0.85682	D	0.000000	T	0.41534	0.1163	L	0.58101	1.795	0.80722	D	1	P;B;D	0.65815	0.944;0.295;0.995	P;B;P	0.62014	0.698;0.091;0.897	T	0.19712	-1.0297	10	0.62326	D	0.03	-6.8791	16.2055	0.82126	0.0:0.0:0.0:1.0	.	115;171;171	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	171;171;171;62;171;115;171	ENSP00000338173:D171A;ENSP00000354370:D171A;ENSP00000326746:D171A;ENSP00000409905:D62A;ENSP00000385992:D171A;ENSP00000440093:D115A	ENSP00000326746:D171A	D	-	2	0	PUM2	20374742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.220000	0.72140	0.533000	0.62120	GAT		0.323	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		28	208	0	0	0	1	0	28	208					G	20511261	T	G	20511261	3	3	79	1	0	0	0	0	1	0	0	0	12876	1435	50	4	2750	4	PUM2	2	20511261	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28284	20511261	222688112	2200	12517											
GDF7	151449	broad.mit.edu	37	chr2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcctctacatcgacGccgccaacaacgttgtctac	6	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	430					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(1288-1290)Gcc>Acc		growth differentiation factor 7							38	35	36					2																	20871120		2203	4300	6503	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20871120G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1288G>A	2.37:g.20871120G>A	ENSP00000272224:p.Ala430Thr						p.A430T	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		430						Missense_Mutation	SNP	ENST00000272224.3	37	c.1288G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164266	0.78339	.	.	ENSG00000143869	ENST00000272224	D	0.83992	-1.79	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.102833	0.38272	U	0.001750	D	0.83166	0.5195	L	0.27975	0.815	0.35487	D	0.798625	D	0.71674	0.998	D	0.65010	0.931	D	0.87335	0.2327	10	0.66056	D	0.02	.	11.3575	0.49623	0.0:0.0:0.706:0.294	.	430	Q7Z4P5	GDF7_HUMAN	T	430	ENSP00000272224:A430T	ENSP00000272224:A430T	A	+	1	0	GDF7	20734601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.357000	0.44125	2.187000	0.69744	0.561000	0.74099	GCC		0.662	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		28	168	0	0	0	1	0	28	168					A	20871120	G	A	20871120	3	1	79	1	0	0	0	0	1	0	0	0	6347	1087	38	1	1294	1	GDF7	2	20871120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359859	20871120	222328253	2201	12518											
C2orf43	60526	broad.mit.edu	37	chr2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaggcagaatggttctaAtatattcaatggtgaaaatt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(685-687)Tta>Gta		chromosome 2 open reading frame 43							89	93	92					2																	20939749		2203	4300	6503	SO:0001583	missense	60526							g.chr2:20939749A>C	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.685T>G	2.37:g.20939749A>C	ENSP00000237822:p.Leu229Val					C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron	p.L229V	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			5	764	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		229					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.685T>G	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368363	0.24771	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.47869	0.83;1.56;0.83	5.76	-2.53	0.06326	.	0.579646	0.16566	N	0.208842	T	0.41236	0.1150	L	0.47716	1.5	0.21627	N	0.999619	P;P;B;P	0.47677	0.846;0.899;0.197;0.786	B;P;B;P	0.47941	0.34;0.514;0.378;0.562	T	0.45366	-0.9266	10	0.20046	T	0.44	-1.5435	11.3086	0.49351	0.3846:0.0:0.6154:0.0	.	187;181;229;229	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	99;229;229;181;99;99	ENSP00000384267:L99V;ENSP00000388635:L181V;ENSP00000440570:L99V	ENSP00000237822:L229V	L	-	1	2	C2orf43	20803230	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.023000	0.12456	-0.259000	0.09432	-0.297000	0.09499	TTA		0.343	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		123	356	0	0	0	1	0	123	356					C	20939749	A	C	20939749	3	2	79	1	0	0	0	0	1	0	0	0	2174	98	4	4	304	4	C2orf43	2	20939749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68629	20939749	222259624	2202	12519											
APOB	338	broad.mit.edu	37	chr2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgtgtggtagttttgAatggacaggtcaatcaatct	11	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4525					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)			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)					GGTAGTTTTGAATGGACAGGT	0.378																																						ENST00000233242.1																			0				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						c.(13573-13575)atT>atG		apolipoprotein B	Atorvastatin(DB01076)						142	146	145					2																	21224719		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.chr2:21224719A>C	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.13575T>G	2.37:g.21224719A>C	ENSP00000233242:p.Ile4525Met						p.I4525M	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	13702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4525					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13575T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384456	0.61845	.	.	ENSG00000084674	ENST00000233242	T	0.37058	1.22	5.68	2.93	0.34026	.	0.218872	0.31884	N	0.006919	T	0.28797	0.0714	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.40864	0.342	T	0.18241	-1.0343	10	0.72032	D	0.01	.	1.1843	0.01852	0.5206:0.1313:0.1521:0.1959	.	4525	P04114	APOB_HUMAN	M	4525	ENSP00000233242:I4525M	ENSP00000233242:I4525M	I	-	3	3	APOB	21078224	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	0.387000	0.20718	0.957000	0.37930	0.482000	0.46254	ATT		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			27	806	0	0	0	1	0	27	806					C	21224719	A	C	21224719	3	2	79	1	0	0	0	0	1	0	0	0	785	242	9	4	120	4	APOB	2	21224719	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	284970	21224719	221974654	2203	12520											
APOB	338	broad.mit.edu	37	chr2	21226159	21226159	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcctcatcagattcccgGaccctcaactcagttttgaa	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4045					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)			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)					CAGATTCCCGGACCCTCAACT	0.403																																						ENST00000233242.1																			0				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						c.(12133-12135)gtC>gtT		apolipoprotein B	Atorvastatin(DB01076)						207	233	224					2																	21226159		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226159G>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.12135C>T	2.37:g.21226159G>A							p.V4045V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4045					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12135C>T	CCDS1703.1																																																																																				0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			273	1540	0	0	0	1	0	273	1540					A	21226159	G	A	21226159	2	1	79	1	0	0	0	0	0	0	0	1	785	1161	41	2		2	APOB	2	21226159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	21226159	221973214	2204	12521											
APOB	338	broad.mit.edu	37	chr2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccagagggaatatatgCgttggagtgtggcttctcca	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		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.R3558H(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)					GGAATATATGCGTTGGAGTGT	0.463																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R3558H(1)	prostate(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						c.(10672-10674)cGc>cAc		apolipoprotein B	Atorvastatin(DB01076)						67	69	68					2																	21229067		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.chr2:21229067C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10673G>A	2.37:g.21229067C>T	ENSP00000233242:p.Arg3558His						p.R3558H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3558		R -> C (in FDB; dbSNP:rs12713559).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10673G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			135	320	0	0	0	1	0	135	320					T	21229067	C	T	21229067	3	4	79	1	0	0	0	0	1	0	0	0	785	768	27	1	3034	1	APOB	2	21229067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2908	21229067	221970306	2205	12522											
APOB	338	broad.mit.edu	37	chr2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggttccagatatcatcaAttttggaagtgccctgcagc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3538					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)			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)					GATATCATCAATTTTGGAAGT	0.433																																						ENST00000233242.1																			0				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						c.(10612-10614)aTt>aGt		apolipoprotein B	Atorvastatin(DB01076)						102	107	105					2																	21229127		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.chr2:21229127A>C	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.10613T>G	2.37:g.21229127A>C	ENSP00000233242:p.Ile3538Ser						p.I3538S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10740	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3538					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10613T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456899	0.26161	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.78595	-1.19	5.85	4.64	0.57946	.	0.838313	0.10117	N	0.713988	T	0.65883	0.2734	N	0.22421	0.69	0.34222	D	0.675498	B	0.29378	0.243	B	0.25987	0.065	T	0.67264	-0.5714	10	0.87932	D	0	.	8.7714	0.34735	0.7795:0.0:0.2205:0.0	.	3538	P04114	APOB_HUMAN	S	3538	ENSP00000233242:I3538S	ENSP00000233242:I3538S	I	-	2	0	APOB	21082632	0.000000	0.05858	0.010000	0.14722	0.345000	0.29048	0.656000	0.24948	0.964000	0.38108	0.533000	0.62120	ATT		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			173	549	0	0	0	1	0	173	549					C	21229127	A	C	21229127	3	2	79	1	0	0	0	0	1	0	0	0	785	101	4	4	3094	4	APOB	2	21229127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	21229127	221970246	2206	12523											
APOB	338	broad.mit.edu	37	chr2	21233266	21233266	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttggcatcatctaatgcAatttgtatatcattttctgt	5	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2158	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			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)					CATCTAATGCAATTTGTATAT	0.299																																						ENST00000233242.1																			0				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						c.(6472-6474)atT>atC		apolipoprotein B	Atorvastatin(DB01076)						56	55	56					2																	21233266		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233266A>G	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.6474T>C	2.37:g.21233266A>G							p.I2158I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6601	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2158			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6474T>C	CCDS1703.1																																																																																				0.299	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			32	78	0	0	0	1	0	32	78					G	21233266	A	G	21233266	2	3	79	1	0	0	0	0	0	0	0	1	785	126	5	4		4	APOB	2	21233266	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	21233266	221966107	2207	12524											
APOB	338	broad.mit.edu	37	chr2	21233848	21233848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcactgactttgtgttcAagagctgcactgatgctttt	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1964					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)			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)					CTTTGTGTTCAAGAGCTGCAC	0.458																																						ENST00000233242.1																			0				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						c.(5890-5892)ctT>ctC		apolipoprotein B	Atorvastatin(DB01076)						157	145	149					2																	21233848		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233848A>G	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.5892T>C	2.37:g.21233848A>G							p.L1964L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6019	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1964					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5892T>C	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			197	489	0	0	0	1	0	197	489					G	21233848	A	G	21233848	2	3	79	1	0	0	0	0	0	0	0	1	785	117	5	4		4	APOB	2	21233848	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	582	21233848	221965525	2208	12525											
APOB	338	broad.mit.edu	37	chr2	21236120	21236120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggtctgtgctggtgttGccaccactgtaggaggcgga	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1376					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)			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)					TGCTGGTGTTGCCACCACTGT	0.517																																						ENST00000233242.1																			0				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						c.(4126-4128)ggC>ggT		apolipoprotein B	Atorvastatin(DB01076)						198	180	186					2																	21236120		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236120G>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.4128C>T	2.37:g.21236120G>A							p.G1376G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4255	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1376					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4128C>T	CCDS1703.1																																																																																				0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			238	723	0	0	0	1	0	238	723					A	21236120	G	A	21236120	2	1	79	1	0	0	0	0	0	0	0	1	785	1306	46	2		2	APOB	2	21236120	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2272	21236120	221963253	2209	12526											
APOB	338	broad.mit.edu	37	chr2	21238318	21238318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttggagaagcagtttGgcaggcgaccagtgggcgag	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1144					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)			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)					GAAGCAGTTTGGCAGGCGACC	0.488																																						ENST00000233242.1																			0				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						c.(3430-3432)gcC>gcT		apolipoprotein B	Atorvastatin(DB01076)						150	131	138					2																	21238318		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238318G>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.3432C>T	2.37:g.21238318G>A							p.A1144A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			22	3559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1144					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3432C>T	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			68	344	0	0	0	1	0	68	344					A	21238318	G	A	21238318	2	1	79	1	0	0	0	0	0	0	0	1	785	1335	47	2		2	APOB	2	21238318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	21238318	221961055	2210	12527											
APOB	338	broad.mit.edu	37	chr2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttagggcaacatgaGcctccagacccgactcgtgg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	913	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			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)					GGCAACATGAGCCTCCAGACC	0.498																																						ENST00000233242.1																			0				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						c.(2737-2739)gCt>gAt		apolipoprotein B	Atorvastatin(DB01076)						83	75	78					2																	21245781		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.chr2:21245781G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2738C>A	2.37:g.21245781G>T	ENSP00000233242:p.Ala913Asp						p.A913D	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2865	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		913			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2738C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780221	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19669	2.13	5.51	3.72	0.42706	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.321319	0.26474	N	0.024168	T	0.40546	0.1121	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.22138	-1.0225	10	0.87932	D	0	.	7.7883	0.29106	0.1421:0.1333:0.7247:0.0	.	913	P04114	APOB_HUMAN	D	913	ENSP00000233242:A913D	ENSP00000233242:A913D	A	-	2	0	APOB	21099286	1.000000	0.71417	0.619000	0.29118	0.916000	0.54674	3.676000	0.54612	0.823000	0.34589	0.655000	0.94253	GCT		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			26	277	1	0	4.87955e-14	1	5.28594e-14	26	277					T	21245781	G	T	21245781	3	4	79	1	0	0	0	0	1	0	0	0	785	971	34	3	11001	3	APOB	2	21245781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7463	21245781	221953592	2211	12528											
APOB	338	broad.mit.edu	37	chr2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtagagttgatagttccGagagaattttctgaagtcca	10	5	1	4	rs548108916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	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.R635W(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)					TGATAGTTCCGAGAGAATTTT	0.368																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R635W(1)	lung(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						c.(1903-1905)Cgg>Tgg		apolipoprotein B	Atorvastatin(DB01076)						117	121	120					2																	21250864		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.chr2:21250864G>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.1903C>T	2.37:g.21250864G>A	ENSP00000233242:p.Arg635Trp					APOB_ENST00000399256.4_Missense_Mutation_p.R635W	p.R635W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			14	2030	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1903C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	APOB	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			133	639	0	0	0	1	0	133	639					A	21250864	G	A	21250864	3	1	79	1	0	0	0	0	1	0	0	0	785	1057	37	1	11852	1	APOB	2	21250864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5083	21250864	221948509	2212	12529											
ATAD2B	54454	broad.mit.edu	37	chr2	23977640	23977640	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtatttctttactttagaAgcacctataattgagacaaa	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1361						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4081-4083)gcT>gcG		ATPase family, AAA domain containing 2B							58	61	60					2																	23977640		1808	4071	5879	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977640A>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4083T>G	2.37:g.23977640A>C						ATAD2B_ENST00000474583.1_5'UTR	p.A1361A	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			26	4426	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.4083T>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270175	0.23221	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.39	1.7	0.24286	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	.	4.9134	0.13833	0.496:0.3372:0.1669:0.0	.	.	.	.	R	637	.	.	L	-	2	0	ATAD2B	23831144	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	0.076000	0.14712	0.434000	0.26340	0.528000	0.53228	CTT		0.373	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		64	183	0	0	0	1	0	64	183					C	23977640	A	C	23977640	2	2	79	1	0	0	0	0	0	0	0	1	1073	59	3	4		4	ATAD2B	2	23977640	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2726776	23977640	219221733	2213	12530											
ATAD2B	54454	broad.mit.edu	37	chr2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctacctgtgcacatgattCctcaggtgttttggcactaa	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	814						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACATGATTCCTCAGGTGTT	0.398																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2440-2442)Gaa>Taa		ATPase family, AAA domain containing 2B							91	95	94					2																	24033200		1888	4121	6009	SO:0001587	stop_gained	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24033200C>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2440G>T	2.37:g.24033200C>A	ENSP00000238789:p.Glu814*					ATAD2B_ENST00000474583.1_5'UTR	p.E814*	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			18	2783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		814					B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	c.2440G>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.798718|10.798718	0.99470|0.99470	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.546240|.	0.19494|.	N|.	0.112908|.	.|T	.|0.79747	.|0.4499	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77713	.|-0.2485	.|3	0.36615|.	T|.	0.2|.	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	814|94	.|.	ENSP00000238789:E814X|.	E|R	-|-	1|3	0|2	ATAD2B|ATAD2B	23886704|23886704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		33	207	1	0	4.4194e-11	1	4.70867e-11	33	207					A	24033200	C	A	24033200	4	1	79	1	0	0	0	0	0	1	0	0	1073	864	30	3	1980	3	ATAD2B	2	24033200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55560	24033200	219166173	2214	12531											
UBXN2A	165324	broad.mit.edu	37	chr2	24194191	24194191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacctcttggtaataatcaAcaatcaaattgtgaatattt	4	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000535786.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	29					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333																																						ENST00000309033.4																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						c.(85-87)caA>caG		UBX domain protein 2A							134	142	140					2																	24194191		2203	4300	6503	SO:0001819	synonymous_variant	165324							g.chr2:24194191A>G	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"UBX domain containing"	27265	protein-coding gene	gene with protein product			"UBX domain containing 4"	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.87A>G	2.37:g.24194191A>G						UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	p.Q29Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN			3	331	+			29					A8K577|B7ZKP8|Q569G8	Silent	SNP	ENST00000309033.4	37	c.87A>G	CCDS1704.1																																																																																				0.333	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		153	374	0	0	0	1	0	153	374					G	24194191	A	G	24194191	2	3	79	1	0	0	0	0	0	0	0	1	16968	40	2	4		4	UBXN2A	2	24194191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	160991	24194191	219005182	2215	12532											
MFSD2B	388931	broad.mit.edu	37	chr2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccagatagcctccagcgCcacagccttttacctgcagc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000406420.3	+	2	195	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	60					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(178-180)gCc>gAc		major facilitator superfamily domain containing 2B							53	54	54					2																	24236237		1981	4154	6135	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24236237C>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.179C>A	2.37:g.24236237C>A	ENSP00000385527:p.Ala60Asp					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A60D	p.A60D			A6NFX1	MFS2B_HUMAN			2	179	+			60					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.179C>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510031	0.85282	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.81739	-1.53;-1.53	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	U	0.000000	D	0.90055	0.6894	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91059	0.4884	10	0.87932	D	0	-23.2717	16.9131	0.86144	0.0:1.0:0.0:0.0	.	60	A6NFX1	MFS2B_HUMAN	D	60	ENSP00000385527:A60D;ENSP00000342501:A60D	ENSP00000342501:A60D	A	+	2	0	MFSD2B	24089741	1.000000	0.71417	0.990000	0.47175	0.674000	0.39518	6.388000	0.73195	2.677000	0.91161	0.462000	0.41574	GCC		0.557	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		23	67	1	0	3.5997e-14	1	3.90403e-14	23	67					A	24236237	C	A	24236237	3	1	79	1	0	0	0	0	1	0	0	0	9572	739	26	3	185	3	MFSD2B	2	24236237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42046	24236237	218963136	2216	12533											
MFSD2B	388931	broad.mit.edu	37	chr2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtttcagatccctgccGcccaggtgtcacttgttctg	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000406420.3	+	3	248	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	78					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(232-234)Gcc>Acc		major facilitator superfamily domain containing 2B							61	63	62					2																	24239035		1944	4145	6089	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239035G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.232G>A	2.37:g.24239035G>A	ENSP00000385527:p.Ala78Thr					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A78T	p.A78T			A6NFX1	MFS2B_HUMAN			3	232	+			78					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.232G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152068	0.38021	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89617	-2.54;-2.54	5.42	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	1.084960	0.07103	U	0.840727	D	0.83459	0.5259	L	0.34521	1.04	0.27780	N	0.943183	B	0.32829	0.386	B	0.26202	0.067	T	0.74890	-0.3510	10	0.66056	D	0.02	-23.4313	10.9067	0.47084	0.0:0.0:0.7049:0.2951	.	78	A6NFX1	MFS2B_HUMAN	T	78	ENSP00000385527:A78T;ENSP00000342501:A78T	ENSP00000342501:A78T	A	+	1	0	MFSD2B	24092539	0.956000	0.32656	1.000000	0.80357	0.129000	0.20672	2.539000	0.45718	2.721000	0.93114	0.511000	0.50034	GCC		0.612	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		40	285	0	0	0	1	0	40	285					A	24239035	G	A	24239035	3	1	79	1	0	0	0	0	1	0	0	0	9572	1087	38	1	242	1	MFSD2B	2	24239035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2798	24239035	218960338	2217	12534											
MFSD2B	388931	broad.mit.edu	37	chr2	24239769	24239770	+	Frame_Shift_Ins	INS	-	-	C													acttcttcctgtggttcctgINSccccccttcaccagcctgcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239769_24239770insC	ENST00000406420.3	+	4	418_419	c.402_403insC	c.(403-405)cccfs	p.P135fs	MFSD2B_ENST00000338315.4_Frame_Shift_Ins_p.P135fs	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	135					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCAC	0.668																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(400-405)ctccccfs		major facilitator superfamily domain containing 2B																																				SO:0001589	frameshift_variant	388931				transport	integral to membrane		g.chr2:24239769_24239770insC		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.408dupC	2.37:g.24239775_24239775dupC	ENSP00000385527:p.Pro135fs					MFSD2B_ENST00000406420.3_Frame_Shift_Ins_p.LP134fs	p.LP134fs			A6NFX1	MFS2B_HUMAN			4	402_403	+			134					B5MC32	Frame_Shift_Ins	INS	ENST00000406420.3	37	c.402_403insC	CCDS46228.1																																																																																				0.668	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		34	298						34	298	---	---	---	---	C	24239770	-	C	24239769	7	5	79	1	0	1	1	0	0	0	0	0	9572	1306	46	0	416	0	MFSD2B	2	24239769	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	734	24239769	218959604	2218	12535											
MFSD2B	388931	broad.mit.edu	37	chr2	24239805	24239805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgaggcctctggtacacGactttctactgcctgttcca	9	14	2	0	rs554518996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000406420.3	+	4	454	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000338315.4_Silent_p.T146T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	146					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.001		0.0	False		,,,				2504	0.0					ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(436-438)acG>acA		major facilitator superfamily domain containing 2B							66	71	70					2																	24239805		2024	4170	6194	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24239805G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.438G>A	2.37:g.24239805G>A						MFSD2B_ENST00000406420.3_Silent_p.T146T	p.T146T			A6NFX1	MFS2B_HUMAN			4	438	+			146					B5MC32	Silent	SNP	ENST00000406420.3	37	c.438G>A	CCDS46228.1																																																																																				0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		55	311	0	0	0	1	0	55	311					A	24239805	G	A	24239805	2	1	79	1	0	0	0	0	0	0	0	1	9572	1045	37	1		1	MFSD2B	2	24239805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36	24239805	218959568	2219	12536											
C2orf44	80304	broad.mit.edu	37	chr2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttggtctttcagtgttctCtaatcgaatttgctggatgt	9	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000295148.4	-	2	1204	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	383									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTGTTCTCTAATCGAATT	0.373			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(1147-1149)Gag>Tag		chromosome 2 open reading frame 44							82	87	85					2																	24261218		2203	4300	6503	SO:0001587	stop_gained	80304						protein binding	g.chr2:24261218C>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1147G>T	2.37:g.24261218C>A	ENSP00000295148:p.Glu383*					C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	1204	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		383					D6W532|Q8IYK0|Q9HBP5	Nonsense_Mutation	SNP	ENST00000295148.4	37	c.1147G>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728379	0.89390	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	5.38	0.77491	.	0.101360	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6847	19.5062	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000295148:E383X	E	-	1	0	C2orf44	24114722	1.000000	0.71417	0.882000	0.34594	0.688000	0.40055	4.782000	0.62396	2.701000	0.92244	0.655000	0.94253	GAG		0.373	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		126	574	1	0	1.75222e-57	1	2.19469e-57	126	574					A	24261218	C	A	24261218	4	1	79	1	0	0	0	0	0	1	0	0	2175	922	32	3	1030	3	C2orf44	2	24261218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21413	24261218	218938155	2220	12537											
C2orf84	653140	broad.mit.edu	37	chr2	24413339	24413339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaagagaaaaagacggccGacctaagtcaggctgcgttt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24413339G>A	ENST00000295150.3	+	6	546	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	154								p.D154N(1)									AAAGACGGCCGACCTAAGTCA	0.458																																						ENST00000295150.3																			1	Substitution - Missense(1)	p.D154N(1)	large_intestine(1)								c.(460-462)Gac>Aac		family with sequence similarity 228, member A							49	50	50					2																	24413339		1880	4100	5980	SO:0001583	missense	653140							g.chr2:24413339G>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 84"	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.460G>A	2.37:g.24413339G>A	ENSP00000295150:p.Asp154Asn						p.D154N	NM_001040710.1	NP_001035800.1					6	546	+									Missense_Mutation	SNP	ENST00000295150.3	37	c.460G>A	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362046	0.41902	.	.	ENSG00000186453	ENST00000295150;ENST00000415196	T;T	0.47528	0.86;0.84	3.64	0.854	0.19007	.	0.356629	0.20561	N	0.089907	T	0.18759	0.0450	N	0.04959	-0.14	0.09310	N	1	B	0.27791	0.189	B	0.20184	0.028	T	0.17715	-1.0360	10	0.15952	T	0.53	3.0656	5.4725	0.16678	0.3768:0.0:0.6232:0.0	.	154	Q86W67	CB084_HUMAN	N	154;55	ENSP00000295150:D154N;ENSP00000416595:D55N	ENSP00000295150:D154N	D	+	1	0	C2orf84	24266843	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.410000	0.21098	0.166000	0.19597	-0.143000	0.13931	GAC		0.458	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		61	242	0	0	0	1	0	61	242					A	24413339	G	A	24413339	3	1	79	1	0	0	0	0	1	0	0	0	2206	1058	37	1	478	1	C2orf84	2	24413339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152121	24413339	218786034	2221	12538											
ITSN2	50618	broad.mit.edu	37	chr2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatattaactgtcctggtGcaaggctaagttgttcagaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1075	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCTGGTGCAAGGCTAAG	0.343																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3223-3225)gCa>gTa		intersectin 2							45	45	45					2																	24471562		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24471562G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3224C>T	2.37:g.24471562G>A	ENSP00000347244:p.Ala1075Val					ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	p.A1075V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			27	3667	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1075			SH3 4.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3224C>T	CCDS1710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559103|3.559103	0.65538|0.65538	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Src homology-3 domain (4);|.	0.000000|.	0.31721|.	U|.	0.007178|.	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.29908|0.29908	0.895|0.895	0.46631|0.46631	D|D	0.999137|0.999137	P;P;P|.	0.47484|.	0.873;0.873;0.896|.	P;P;P|.	0.48952|.	0.461;0.461;0.596|.	T|T	0.50972|0.50972	-0.8764|-0.8764	10|5	0.62326|.	D|.	0.03|.	.|.	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;1048;1075|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	V|Y	1048;1075;1048;1075|3	ENSP00000354561:A1048V;ENSP00000347244:A1075V;ENSP00000370250:A1048V;ENSP00000384499:A1075V|.	ENSP00000347244:A1075V|.	A|H	-|-	2|1	0|0	ITSN2|ITSN2	24325066|24325066	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.334000|4.334000	0.59291|0.59291	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		29	246	0	0	0	1	0	29	246					A	24471562	G	A	24471562	3	1	79	1	0	0	0	0	1	0	0	0	7957	1319	46	2	1976	2	ITSN2	2	24471562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58223	24471562	218727811	2222	12539											
ITSN2	50618	broad.mit.edu	37	chr2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggctgattttttctgCcatgatgtatttacagttag	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	873					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTTTCTGCCATGATGTAT	0.368																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2617-2619)tgG>tgA		intersectin 2							131	122	125					2																	24484038		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484038C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2619G>A	2.37:g.24484038C>T	ENSP00000347244:p.Trp873*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	p.W873*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			22	3062	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		873					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.2619G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	42	9.288940	0.99127	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.27	5.27	0.74061	.	0.000000	0.35870	U	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	.	.	.	X	846;873;846;873	.	ENSP00000347244:W873X	W	-	3	0	ITSN2	24337542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.841000	0.55850	2.650000	0.89964	0.555000	0.69702	TGG		0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		35	231	0	0	0	1	0	35	231					T	24484038	C	T	24484038	4	4	79	1	0	0	0	0	0	1	0	0	7957	740	26	2	2601	2	ITSN2	2	24484038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12476	24484038	218715335	2223	12540											
ITSN2	50618	broad.mit.edu	37	chr2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctattcatacctactagatcCtaaatcaatcagagactgcg	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	215					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTAGATCCTAAATCAATC	0.343																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(643-645)Gga>Tga		intersectin 2							233	249	244					2																	24533163		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533163C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.643G>T	2.37:g.24533163C>A	ENSP00000347244:p.Gly215*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*	p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			7	1086	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		215					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.643G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	35	5.438748	0.96168	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.97	4.09	0.47781	.	0.000000	0.32372	U	0.006187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.4601	0.61223	0.1566:0.8434:0.0:0.0	.	.	.	.	X	215;215;215;214;215;215	.	ENSP00000347244:G215X	G	-	1	0	ITSN2	24386667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	1.207000	0.43291	0.591000	0.81541	GGA		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		221	1289	1	0	4.94232e-47	1	6.07969e-47	221	1289					A	24533163	C	A	24533163	4	1	79	1	0	0	0	0	0	1	0	0	7957	690	24	3	4637	3	ITSN2	2	24533163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	24533163	218666210	2224	12541											
NCOA1	8648	broad.mit.edu	37	chr2	24905930	24905930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaattaatgaatacgagCgtctacagcatactgcacgt	10	8	1	1	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000406961.1	+	8	1117	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000405141.1_Silent_p.S155S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	155	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATACGAGCGTCTACAGCA	0.368			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(463-465)agC>agT		nuclear receptor coactivator 1		C	,,	3,4403	6.2+/-15.9	0,3,2200	86	83	84		465,465,465	-2.9	1	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	155/1442,155/1400,155/1441	24905930	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24905930C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.465C>T	2.37:g.24905930C>T						NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000406961.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S	p.S155S			Q15788	NCOA1_HUMAN			9	1176	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		155			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.465C>T	CCDS1712.1																																																																																				0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		55	329	0	0	0	1	0	55	329					T	24905930	C	T	24905930	2	4	79	1	0	0	0	0	0	0	0	1	10270	767	27	1		1	NCOA1	2	24905930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372767	24905930	218293443	2225	12542											
NCOA1	8648	broad.mit.edu	37	chr2	24952420	24952420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaccacaacaagcaacGccacctttgatcatggaaga	6	13	1	2	rs369260461		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000406961.1	+	17	3589	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000405141.1_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	979	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAACGCCACCTTTGA	0.428			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2935-2937)acG>acA		nuclear receptor coactivator 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	157	140	146		2937,2937,2937	3.8	1	2		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	979/1442,979/1400,979/1441	24952420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24952420G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2937G>A	2.37:g.24952420G>A						NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000406961.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T	p.T979T			Q15788	NCOA1_HUMAN			18	3648	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		979			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2937G>A	CCDS1712.1																																																																																				0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		211	556	0	0	0	1	0	211	556					A	24952420	G	A	24952420	2	1	79	1	0	0	0	0	0	0	0	1	10270	1074	38	1		1	NCOA1	2	24952420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46490	24952420	218246953	2226	12543											
NCOA1	8648	broad.mit.edu	37	chr2	24991146	24991146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagtgaatctggtaggCggggacccttacctgaacca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000405141.1_3'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1404					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.G1404G(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGTAGGCGGGGACCCTT	0.557			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000406961.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	1	Substitution - coding silent(1)	p.G1404G(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4210-4212)ggC>ggT		nuclear receptor coactivator 1							100	101	100					2																	24991146		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24991146C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4212C>T	2.37:g.24991146C>T						NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR	p.G1404G			Q15788	NCOA1_HUMAN			23	4864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1404					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.4212C>T	CCDS1712.1																																																																																				0.557	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		93	509	0	0	0	1	0	93	509					T	24991146	C	T	24991146	2	4	79	1	0	0	0	0	0	0	0	1	10270	755	27	1		1	NCOA1	2	24991146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38726	24991146	218208227	2227	12544											
ADCY3	109	broad.mit.edu	37	chr2	25042948	25042948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcacaaagcggaagccGtactctcggaggatgacttg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000260600.5	-	21	4139	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3286-3288)taC>taT		adenylate cyclase 3							54	48	50					2																	25042948		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042948G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3288C>T	2.37:g.25042948G>A						CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y|CENPO_ENST00000473706.1_3'UTR	p.Y1096Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			21	4139	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1096					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.3288C>T	CCDS1715.1																																																																																				0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			34	202	0	0	0	1	0	34	202					A	25042948	G	A	25042948	2	1	79	1	0	0	0	0	0	0	0	1	295	1140	40	1		1	ADCY3	2	25042948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51802	25042948	218156425	2228	12545											
ADCY3	109	broad.mit.edu	37	chr2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagccgtactctcggaGgatgacttgggtttcttcta	13	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000260600.5	-	21	4128	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1093					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3277-3279)Ctc>Atc		adenylate cyclase 3							51	46	48					2																	25042959		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042959G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3277C>A	2.37:g.25042959G>T	ENSP00000260600:p.Leu1093Ile					CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I|CENPO_ENST00000473706.1_3'UTR	p.L1093I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			21	4128	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1093					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3277C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935156	0.92458	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.86097	-2.07;-2.07	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.59436	1.845	0.52501	D	0.999958	D;D;P	0.76494	0.984;0.999;0.546	D;D;P	0.97110	0.981;1.0;0.803	D	0.90900	0.4768	10	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1094;1093;680	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1093;680;1068	ENSP00000260600:L1093I;ENSP00000384484:L680I	ENSP00000260600:L1093I	L	-	1	0	ADCY3	24896463	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.526000	0.81920	2.838000	0.97847	0.655000	0.94253	CTC		0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			52	185	1	0	8.72158e-25	1	9.98758e-25	52	185					T	25042959	G	T	25042959	3	4	79	1	0	0	0	0	1	0	0	0	295	1000	35	3	161	3	ADCY3	2	25042959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	25042959	218156414	2229	12546											
ADCY3	109	broad.mit.edu	37	chr2	25046192	25046192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaggcaaacatgacTccaatctcatcatacgtctg	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000260600.5	-	17	3620	c.2769A>G	c.(2767-2769)ggA>ggG	p.G923G	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.G510G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	923					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2767-2769)ggA>ggG		adenylate cyclase 3							148	113	125					2																	25046192		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046192T>C	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2769A>G	2.37:g.25046192T>C						ADCY3_ENST00000405392.1_Silent_p.G510G	p.G923G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3620	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		923					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2769A>G	CCDS1715.1																																																																																				0.468	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			21	225	0	0	0	1	0	21	225					C	25046192	T	C	25046192	2	2	79	1	0	0	0	0	0	0	0	1	295	1538	54	4		4	ADCY3	2	25046192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3233	25046192	218153181	2230	12547											
ADCY3	109	broad.mit.edu	37	chr2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcgtattcatcaaagaCgggacgccaggcatagaggt	14	8	2	2	rs369803323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000260600.5	-	13	3243	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	798					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2392-2394)Gtc>Atc		adenylate cyclase 3		C	ILE/VAL	0,4406		0,0,2203	100	91	94		2392	-0.7	0.9	2		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY3	NM_004036.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	798/1145	25050811	1,13005	2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050811C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2392G>A	2.37:g.25050811C>T	ENSP00000260600:p.Val798Ile		OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I|ADCY3_ENST00000450524.1_5'UTR	p.V798I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			13	3243	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		798					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2392G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675471	0.03378	0.0	1.16E-4	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.38	-0.709	0.11237	.	0.251516	0.42964	N	0.000624	T	0.25938	0.0632	N	0.00677	-1.265	0.29688	N	0.841193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.15952	T	0.53	.	13.8019	0.63206	0.0:0.1043:0.0:0.8957	.	798;798;385	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	798;385;773;137;141	ENSP00000260600:V798I;ENSP00000384484:V385I;ENSP00000402008:V137I;ENSP00000410972:V141I	ENSP00000260600:V798I	V	-	1	0	ADCY3	24904315	1.000000	0.71417	0.926000	0.36857	0.006000	0.05464	2.103000	0.41806	-0.280000	0.09154	-1.910000	0.00522	GTC		0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			94	337	0	0	0	1	0	94	337					T	25050811	C	T	25050811	3	4	79	1	0	0	0	0	1	0	0	0	295	536	19	1	1078	1	ADCY3	2	25050811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4619	25050811	218148562	2231	12548											
ADCY3	109	broad.mit.edu	37	chr2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcgcttacacttgggCggactctcgctcaagcaggg	16	11	2	0	rs564626097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000260600.5	-	9	2649	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	600					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACACTTGGGCGGACTCTCGC	0.637													C|||	3	0.000599042	0.0	0.0043	5008	,	,		15217	0.0		0.0	False		,,,				2504	0.0					ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1798-1800)Gcc>Acc		adenylate cyclase 3							45	46	46					2																	25057670		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25057670C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1798G>A	2.37:g.25057670C>T	ENSP00000260600:p.Ala600Thr					ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	p.A600T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			9	2649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		600					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1798G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.261189	0.37095	N	0.002250	T	0.18002	0.0432	N	0.08118	0	0.40094	D	0.976298	P;P;P	0.44776	0.751;0.843;0.751	B;B;B	0.24394	0.037;0.037;0.053	T	0.15896	-1.0421	10	0.14252	T	0.57	.	17.2636	0.87078	0.0:1.0:0.0:0.0	.	600;600;233	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	600;233;575	ENSP00000260600:A600T;ENSP00000384484:A233T	ENSP00000260600:A600T	A	-	1	0	ADCY3	24911174	0.999000	0.42202	0.943000	0.38184	0.969000	0.65631	4.132000	0.57977	2.413000	0.81919	0.655000	0.94253	GCC		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			13	366	0	0	0	1	0	13	366					T	25057670	C	T	25057670	3	4	79	1	0	0	0	0	1	0	0	0	295	768	27	1	1688	1	ADCY3	2	25057670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6859	25057670	218141703	2232	12549											
ADCY3	109	broad.mit.edu	37	chr2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgactggcgggcctccaGgaaggccttgcggtgcttgc	16	13	0	0	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	256					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(766-768)Ctg>Atg		adenylate cyclase 3							83	83	83					2																	25095498		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25095498G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.766C>A	2.37:g.25095498G>T	ENSP00000260600:p.Leu256Met						p.L256M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			2	1617	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		256					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.766C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852307	0.71719	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	D;D;D	0.83419	-1.72;-1.61;-1.51	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91272	0.5045	10	0.66056	D	0.02	.	17.3652	0.87362	0.0:0.0:1.0:0.0	.	256;256	B7ZLX9;O60266	.;ADCY3_HUMAN	M	256;231;22;34	ENSP00000260600:L256M;ENSP00000399275:L22M;ENSP00000401455:L34M	ENSP00000260600:L256M	L	-	1	2	ADCY3	24949002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.323000	0.59221	2.430000	0.82344	0.591000	0.81541	CTG		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			179	757	1	0	5.09819e-84	1	6.53081e-84	179	757					T	25095498	G	T	25095498	3	4	79	1	0	0	0	0	1	0	0	0	295	991	35	3	2748	3	ADCY3	2	25095498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37828	25095498	218103875	2233	12550											
ADCY3	109	broad.mit.edu	37	chr2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccgcgtgggcacgcgcgAagttcaggcccaggtaggag	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	159					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(475-477)tTc>tCc		adenylate cyclase 3							81	86	84					2																	25141381		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141381A>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.476T>C	2.37:g.25141381A>G	ENSP00000260600:p.Phe159Ser						p.F159S	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1327	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		159					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.476T>C	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019731	0.35606	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.81078	-1.45;-1.09	4.38	4.38	0.52667	.	0.062532	0.64402	D	0.000005	T	0.73961	0.3654	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.17433	0.018;0.018	T	0.68599	-0.5366	10	0.21540	T	0.41	.	12.5861	0.56419	1.0:0.0:0.0:0.0	.	159;159	B7ZLX9;O60266	.;ADCY3_HUMAN	S	159;134;159	ENSP00000260600:F159S;ENSP00000389799:F159S	ENSP00000260600:F159S	F	-	2	0	ADCY3	24994885	1.000000	0.71417	0.885000	0.34714	0.655000	0.38815	6.454000	0.73493	1.842000	0.53543	0.460000	0.39030	TTC		0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			153	422	0	0	0	1	0	153	422					G	25141381	A	G	25141381	3	3	79	1	0	0	0	0	1	0	0	0	295	246	9	4	3042	4	ADCY3	2	25141381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45883	25141381	218057992	2234	12551											
ADCY3	109	broad.mit.edu	37	chr2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaagtcagccgcatgaagCgaggcaggcacaggcaggag	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	51					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(151-153)cGc>cAc		adenylate cyclase 3							41	45	44					2																	25141705		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141705C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.152G>A	2.37:g.25141705C>T	ENSP00000260600:p.Arg51His						p.R51H	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1003	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		51					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.152G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403834	0.62288	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80738	-1.41;-1.02;0.65	4.27	3.37	0.38596	.	0.198405	0.45126	D	0.000381	T	0.72011	0.3408	L	0.51422	1.61	0.80722	D	1	P;P	0.40332	0.713;0.713	B;B	0.35114	0.182;0.196	T	0.74312	-0.3706	10	0.44086	T	0.13	.	11.2568	0.49058	0.0:0.907:0.0:0.0929	.	51;51	B7ZLX9;O60266	.;ADCY3_HUMAN	H	51;26;51;51	ENSP00000260600:R51H;ENSP00000389799:R51H;ENSP00000406153:R51H	ENSP00000260600:R51H	R	-	2	0	ADCY3	24995209	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.815000	0.48018	2.211000	0.71520	0.563000	0.77884	CGC		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			22	318	0	0	0	1	0	22	318					T	25141705	C	T	25141705	3	4	79	1	0	0	0	0	1	0	0	0	295	768	27	1	3366	1	ADCY3	2	25141705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	25141705	218057668	2235	12552											
POMC	5443	broad.mit.edu	37	chr2	25384073	25384073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgggcgggctgccccaGcggaagtgctccatcctgta	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Silent_p.R227R|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin	227					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCCCCAGCGGAAGTGCT	0.652																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(679-681)cgC>cgA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						35	37	36					2																	25384073		2203	4300	6503	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384073G>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.681C>A	2.37:g.25384073G>T						POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R|POMC_ENST00000264708.3_Silent_p.R227R	p.R227R			P01189	COLI_HUMAN			3	1136	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		227					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.681C>A	CCDS1717.1																																																																																				0.652	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		36	226	1	0	8.73648e-17	1	9.61379e-17	36	226					T	25384073	G	T	25384073	2	4	79	1	0	0	0	0	0	0	0	1	12284	958	34	3		3	POMC	2	25384073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242368	25384073	217815300	2236	12553											
DNMT3A	1788	broad.mit.edu	37	chr2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccccagaagtagcgggccCtgtgtgcagctgacacttct	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	790	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCGGGCCCTGTGTGCAGC	0.562			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2368-2370)aGg>aTg		DNA (cytosine-5-)-methyltransferase 3 alpha							69	62	64					2																	25462038		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25462038C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2369G>T	2.37:g.25462038C>A	ENSP00000264709:p.Arg790Met					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	p.R790M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			20	2706	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		790					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2369G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187538	0.94923	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96	5.64	5.64	0.86602	.	0.084554	0.85682	D	0.000000	D	0.99846	0.9929	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.87932	D	0	-14.0906	17.206	0.86918	0.0:1.0:0.0:0.0	.	790;601	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	601;790;790;567	ENSP00000370122:R601M;ENSP00000324375:R790M;ENSP00000264709:R790M;ENSP00000384237:R567M	ENSP00000264709:R790M	R	-	2	0	DNMT3A	25315542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	AGG		0.562	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		34	138	1	0	3.76114e-14	1	4.07806e-14	34	138					A	25462038	C	A	25462038	3	1	79	1	0	0	0	0	1	0	0	0	4692	681	24	3	385	3	DNMT3A	2	25462038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77965	25462038	217737335	2237	12554											
DNMT3A	1788	broad.mit.edu	37	chr2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcactcacaaattcCtggtcgtggttattagcgaa	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1843-1845)caG>caT		DNA (cytosine-5-)-methyltransferase 3 alpha							32	37	36					2																	25467030		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467030C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1845G>T	2.37:g.25467030C>A	ENSP00000264709:p.Gln615His					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	p.Q615H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2182	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		615					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1845G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789743	0.70337	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.71036	2.16	0.80722	D	1	B;D	0.71674	0.353;0.998	B;D	0.79784	0.106;0.993	T	0.81015	-0.1124	10	0.33141	T	0.24	-9.0995	8.0965	0.30831	0.0:0.762:0.0:0.238	.	615;426	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	426;615;615;392	ENSP00000370122:Q426H;ENSP00000324375:Q615H;ENSP00000264709:Q615H;ENSP00000384237:Q392H	ENSP00000264709:Q615H	Q	-	3	2	DNMT3A	25320534	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.644000	0.24766	2.354000	0.79902	0.655000	0.94253	CAG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		113	261	1	0	6.1095e-40	1	7.39697e-40	113	261					A	25467030	C	A	25467030	3	1	79	1	0	0	0	0	1	0	0	0	4692	680	24	3	929	3	DNMT3A	2	25467030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4992	25467030	217732343	2238	12555											
DNMT3A	1788	broad.mit.edu	37	chr2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttctgcacctccacgGccttggcagtgtcactctca	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	398	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACGGCCTTGGCAGT	0.642			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1192-1194)gCc>gTc		DNA (cytosine-5-)-methyltransferase 3 alpha							81	79	80					2																	25469575		2203	4299	6502	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469575G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1193C>T	2.37:g.25469575G>A	ENSP00000264709:p.Ala398Val					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	p.A398V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			10	1530	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		398			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1193C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696275	0.48202	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	.	0.138248	0.49305	D	0.000144	D	0.90587	0.7049	N	0.08118	0	0.80722	D	1	B;B	0.21225	0.002;0.053	B;B	0.08055	0.0;0.003	D	0.87477	0.2418	10	0.54805	T	0.06	-5.7502	15.5438	0.76077	0.0:0.0:1.0:0.0	.	398;209	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	209;398;398;175	ENSP00000370122:A209V;ENSP00000324375:A398V;ENSP00000264709:A398V;ENSP00000384237:A175V	ENSP00000264709:A398V	A	-	2	0	DNMT3A	25323079	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	4.409000	0.59768	2.535000	0.85469	0.655000	0.94253	GCC		0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		56	726	0	0	0	1	0	56	726					A	25469575	G	A	25469575	3	1	79	1	0	0	0	0	1	0	0	0	4692	1203	42	2	1601	2	DNMT3A	2	25469575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2545	25469575	217729798	2239	12556											
DTNB	1838	broad.mit.edu	37	chr2	25650421	25650421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttcagcaacttcatcaGctcttccagctggaccatca	5	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25650421G>T	ENST00000406818.3	-	15	1786	c.1537C>A	c.(1537-1539)Ctg>Atg	p.L513M	DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|AC104699.1_ENST00000352271.6_RNA	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	513						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCATCAGCTCTTCCAGC	0.562																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1537-1539)Ctg>Atg		dystrobrevin, beta							72	78	76					2																	25650421		2077	4226	6303	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25650421G>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1537C>A	2.37:g.25650421G>T	ENSP00000384084:p.Leu513Met					DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M	p.L513M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			15	1786	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		513					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1537C>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013511	0.54468	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.73152	0.7;0.81;0.54;0.87;0.55;0.7;0.66;0.57;-0.72	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	L	0.61218	1.895	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.997;0.991;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.988;0.973;0.988;0.998;0.984;0.953;0.953;0.972;0.984;0.978;0.995;0.988;0.999;0.972	D	0.83885	0.0281	10	0.87932	D	0	-13.0937	16.7198	0.85407	0.0693:0.0:0.9307:0.0	.	513;309;456;513;513;513;456;483;483;483;513;513;513;513	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	M	456;513;513;513;483;483;483;513;309	ENSP00000444463:L456M;ENSP00000384084:L513M;ENSP00000385482:L513M;ENSP00000385193:L513M;ENSP00000384767:L483M;ENSP00000384787:L483M;ENSP00000385784:L483M;ENSP00000288642:L513M;ENSP00000444961:L309M	ENSP00000288642:L513M	L	-	1	2	DTNB	25503925	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.385000	0.66231	0.806000	0.34183	-0.797000	0.03246	CTG		0.562	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	309	1	0	1.6384e-10	1	1.73828e-10	7	309					T	25650421	G	T	25650421	3	4	79	1	0	0	0	0	1	0	0	0	4805	962	34	3	370	3	DTNB	2	25650421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180846	25650421	217548952	2240	12557											
DTNB	1838	broad.mit.edu	37	chr2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatcgtttttgtacaaatCgtaatttgcaggctgttctg	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	42						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTACAAATCGTAATTTGCA	0.343																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(124-126)cGa>cAa		dystrobrevin, beta							86	84	85					2																	25861906		1851	4096	5947	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25861906C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.125G>A	2.37:g.25861906C>T	ENSP00000384084:p.Arg42Gln					DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q	p.R42Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			3	374	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.125G>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244952	0.95272	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.75150	2.29	0.80722	D	1	D;P;D;D;D;D;P;P	0.89917	0.995;0.884;0.998;1.0;1.0;1.0;0.916;0.875	P;P;P;D;D;D;P;B	0.81914	0.823;0.473;0.899;0.995;0.98;0.99;0.493;0.383	T	0.81745	-0.0792	10	0.54805	T	0.06	-7.3487	17.1412	0.86754	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42;42;42	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	42	ENSP00000384084:R42Q;ENSP00000385482:R42Q;ENSP00000385193:R42Q;ENSP00000384767:R42Q;ENSP00000384787:R42Q;ENSP00000385784:R42Q;ENSP00000288642:R42Q;ENSP00000306529:R42Q;ENSP00000340957:R42Q	ENSP00000288642:R42Q	R	-	2	0	DTNB	25715410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA		0.343	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	47	0	0	0	1	0	7	47					T	25861906	C	T	25861906	3	4	79	1	0	0	0	0	1	0	0	0	4805	884	31	1	1830	1	DTNB	2	25861906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211485	25861906	217337467	2241	12558											
ASXL2	55252	broad.mit.edu	37	chr2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatgcctctatagcttgGccctatctgggtggggcttc	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1325					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATAGCTTGGCCCTATCTGG	0.532																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3973-3975)Cca>Tca		additional sex combs like 2 (Drosophila)							31	30	30					2																	25965233		1946	4137	6083	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965233G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3973C>T	2.37:g.25965233G>A	ENSP00000391447:p.Pro1325Ser					ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S	p.P1325S			Q76L83	ASXL2_HUMAN			13	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1325					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3973C>T		.	.	.	.	.	.	.	.	.	.	G	13.12	2.141906	0.37825	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.24;2.24;2.2;2.2	6.03	5.14	0.70334	.	0.166625	0.53938	D	0.000047	T	0.36552	0.0971	L	0.55103	1.725	0.25005	N	0.991446	D;B	0.89917	1.0;0.162	D;B	0.87578	0.998;0.055	T	0.18209	-1.0344	10	0.22706	T	0.39	-10.6364	9.4576	0.38764	0.0746:0.1453:0.7801:0.0	.	808;1325	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	1325;1297;808;808	ENSP00000391447:P1325S;ENSP00000337250:P1297S;ENSP00000383920:P808S;ENSP00000272341:P808S	ENSP00000272341:P808S	P	-	1	0	ASXL2	25818737	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.564000	0.36375	1.524000	0.49035	0.655000	0.94253	CCA		0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		26	138	0	0	0	1	0	26	138					A	25965233	G	A	25965233	3	1	79	1	0	0	0	0	1	0	0	0	1068	1203	42	2	338	2	ASXL2	2	25965233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103327	25965233	217234140	2242	12559											
ASXL2	55252	broad.mit.edu	37	chr2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactggaactattctgataaGagaggcctctgacacaggca	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	419					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGATAAGAGAGGCCTCT	0.438																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1255-1257)Ctt>Ttt		additional sex combs like 2 (Drosophila)							255	243	246					2																	25973170		1862	4111	5973	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973170G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1255C>T	2.37:g.25973170G>A	ENSP00000391447:p.Leu419Phe					ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F	p.L419F			Q76L83	ASXL2_HUMAN			12	1548	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		419					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	G	10.66	1.412728	0.25465	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.79	3.93	0.45458	.	0.556047	0.19778	N	0.106299	T	0.09069	0.0224	N	0.08118	0	0.22305	N	0.999212	B;P	0.44877	0.379;0.845	B;B	0.41619	0.082;0.361	T	0.11717	-1.0576	10	0.45353	T	0.12	-0.6765	8.2328	0.31608	0.082:0.0:0.7593:0.1587	.	159;419	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	419;391;159;159	ENSP00000391447:L419F;ENSP00000337250:L391F;ENSP00000383920:L159F;ENSP00000272341:L159F	ENSP00000272341:L159F	L	-	1	0	ASXL2	25826674	0.394000	0.25246	0.851000	0.33527	0.251000	0.25915	2.011000	0.40922	1.381000	0.46364	0.591000	0.81541	CTT		0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		236	1075	0	0	0	1	0	236	1075					A	25973170	G	A	25973170	3	1	79	1	0	0	0	0	1	0	0	0	1068	942	33	2	3060	2	ASXL2	2	25973170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7937	25973170	217226203	2243	12560											
KIF3C	3797	broad.mit.edu	37	chr2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgccaccaccgccacccGaggatggtgtggctgcccct	11	19	0	0	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	269	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(805-807)tCg>tTg		kinesin family member 3C		G	LEU/SER	0,4398		0,0,2199	33	35	34		806	2.9	0	2	dbSNP_134	34	1,8573		0,1,4286	no	missense	KIF3C	NM_002254.6	145	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	benign	269/794	26203981	1,12971	2199	4287	6486	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203981G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.806C>T	2.37:g.26203981G>A	ENSP00000264712:p.Ser269Leu					KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	p.S269L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1385	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		269			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.806C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	1.286	-0.608905	0.03690	0.0	1.17E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.67	2.92	0.33932	Kinesin, motor domain (3);	1.216860	0.05796	N	0.611221	T	0.58192	0.2105	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50154	-0.8861	10	0.72032	D	0.01	.	7.063	0.25137	0.2702:0.0:0.7298:0.0	.	269;269	B7ZM25;O14782	.;KIF3C_HUMAN	L	269;75;269	ENSP00000264712:S269L;ENSP00000385030:S269L	ENSP00000264712:S269L	S	-	2	0	KIF3C	26057485	0.112000	0.22096	0.001000	0.08648	0.012000	0.07955	2.075000	0.41538	0.761000	0.33130	0.655000	0.94253	TCG		0.632	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			55	290	0	0	0	1	0	55	290					A	26203981	G	A	26203981	3	1	79	1	0	0	0	0	1	0	0	0	8332	1059	37	1	1607	1	KIF3C	2	26203981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230811	26203981	216995392	2244	12561											
RAB10	10890	broad.mit.edu	37	chr2	26350742	26350742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagggagcatggtattagGttttttgagactagtgcaaa	13	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26350742G>A	ENST00000264710.4	+	5	940	c.441G>A	c.(439-441)agG>agA	p.R147R	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	147					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTATTAGGTTTTTTGAGA	0.348																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(439-441)agG>agA		RAB10, member RAS oncogene family							168	161	164					2																	26350742		2203	4300	6503	SO:0001819	synonymous_variant	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26350742G>A	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.441G>A	2.37:g.26350742G>A						RAB10_ENST00000462003.1_3'UTR	p.R147R	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			5	940	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		147					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	ENST00000264710.4	37	c.441G>A	CCDS1720.1																																																																																				0.348	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		11	499	0	0	0	1	0	11	499					A	26350742	G	A	26350742	2	1	79	1	0	0	0	0	0	0	0	1	12940	1252	44	2		2	RAB10	2	26350742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146761	26350742	216848631	2245	12562											
HADHA	3030	broad.mit.edu	37	chr2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttccacttttttgtaaacCtgttgcctgacaaatggaat	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	281					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTGTAAACCTGTTGCCTGA	0.363																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(841-843)caG>caT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						146	135	139					2																	26437387		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26437387C>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.843G>T	2.37:g.26437387C>A	ENSP00000370023:p.Gln281His					HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	p.Q281H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			9	972	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.843G>T	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053627	0.36277	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.72051	-0.62;-0.62	5.64	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.80982	2.52	0.53005	D	0.99996	P;P;P	0.45011	0.848;0.844;0.844	P;P;P	0.51055	0.652;0.657;0.657	T	0.65340	-0.6192	10	0.27785	T	0.31	-21.0299	4.6841	0.12750	0.138:0.4851:0.0:0.377	.	194;281;281	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	H	281;194	ENSP00000370023:Q281H;ENSP00000405344:Q194H	ENSP00000370023:Q281H	Q	-	3	2	HADHA	26290891	0.719000	0.27986	0.264000	0.24511	0.980000	0.70556	0.215000	0.17562	-0.075000	0.12798	-0.143000	0.13931	CAG		0.363	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		126	322	1	0	4.50961e-65	1	5.70143e-65	126	322					A	26437387	C	A	26437387	3	1	79	1	0	0	0	0	1	0	0	0	6973	680	24	3	1496	3	HADHA	2	26437387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86645	26437387	216761986	2246	12563											
HADHB	3032	broad.mit.edu	37	chr2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgatgtgatcgtggcaGgtggtgttgagttgatgtcc	17	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	163					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(487-489)Ggt>Agt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							237	224	228					2																	26501526		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501526G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.487G>A	2.37:g.26501526G>A	ENSP00000325136:p.Gly163Ser					HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR	p.G163S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			8	591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		163					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.487G>A	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465686	0.96257	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.44	5.44	0.79542	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98302	1.0519	9	.	.	.	-19.9874	18.186	0.89793	0.0:0.0:1.0:0.0	.	148;141;163	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	163;148;141;163	ENSP00000325136:G163S;ENSP00000444295:G148S;ENSP00000442665:G141S;ENSP00000404633:G163S	.	G	+	1	0	HADHB	26355030	1.000000	0.71417	0.995000	0.50966	0.704000	0.40688	9.759000	0.98931	2.708000	0.92522	0.650000	0.86243	GGT		0.433	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		51	444	0	0	0	1	0	51	444					A	26501526	G	A	26501526	3	1	79	1	0	0	0	0	1	0	0	0	6974	1000	35	2	513	2	HADHB	2	26501526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64139	26501526	216697847	2247	12564											
HADHB	3032	broad.mit.edu	37	chr2	26501669	26501669	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttcctagcacctgaGgtaaggcttgtgtttgcagg	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.E195D	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	210					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.e8+1		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							111	111	111					2																	26501669		2203	4300	6503	SO:0001630	splice_region_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501669G>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.630+1G>T	2.37:g.26501669G>T						HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Splice_Site_p.E195_splice|HADHB_ENST00000545822.1_Splice_Site_p.E188_splice|HADHB_ENST00000494615.1_3'UTR	p.E210_splice	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			8	734	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		210					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Splice_Site	SNP	ENST00000317799.5	37	c.630_splice	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845401	0.71603	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.93426	-3.21;-3.22;-3.2	5.06	5.06	0.68205	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35944	0.529;0.337;0.337	B;B;B	0.37943	0.248;0.261;0.261	D	0.89801	0.3975	9	.	.	.	-22.557	17.5149	0.87770	0.0:0.0:1.0:0.0	.	195;188;210	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	D	210;195;188	ENSP00000325136:E210D;ENSP00000444295:E195D;ENSP00000442665:E188D	.	E	+	3	2	HADHB	26355173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.495000	0.97964	2.788000	0.95919	0.650000	0.86243	GAG		0.418	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	Missense_Mutation	99	485	1	0	1.76403e-45	1	2.16332e-45	99	485					T	26501669	G	T	26501669	5	4	79	1	0	0	0	0	0	0	1	0	6974	1014	35	3	656	3	HADHB	2	26501669	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	26501669	216697704	2248	12565											
GPR113	165082	broad.mit.edu	37	chr2	26535831	26535831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagggctctgcggtcaaGctgtattctggcctctgcca	11	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26535831G>T	ENST00000311519.1	-	10	1632	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I	GPR113_ENST00000333478.6_Missense_Mutation_p.L346I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	545					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGTCAAGCTGTATTCTG	0.617																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1036-1038)Ctt>Att		G protein-coupled receptor 113							82	76	78					2																	26535831		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26535831G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1633C>A	2.37:g.26535831G>T	ENSP00000307831:p.Leu545Ile					GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I|GPR113_ENST00000311519.1_Missense_Mutation_p.L545I|GPR113_ENST00000459892.1_5'UTR	p.L346I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			7	1618	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		545					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1036C>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433745	0.62955	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.52	5.52	0.82312	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.25044	0.0608	M	0.66939	2.045	0.80722	D	1	B;P;B;B	0.36110	0.236;0.537;0.392;0.094	B;B;B;B	0.44224	0.444;0.316;0.444;0.234	T	0.00589	-1.1656	9	0.56958	D	0.05	-17.2314	15.283	0.73801	0.0:0.0:1.0:0.0	.	476;346;545;148	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	I	148;346;476;545	ENSP00000445729:L148I;ENSP00000327396:L346I;ENSP00000388537:L476I;ENSP00000307831:L545I	ENSP00000307831:L545I	L	-	1	0	GPR113	26389335	0.990000	0.36364	0.118000	0.21660	0.225000	0.24961	4.891000	0.63185	2.761000	0.94854	0.655000	0.94253	CTT		0.617	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		7	116	1	0	2.7689e-08	1	2.89045e-08	7	116					T	26535831	G	T	26535831	3	4	79	1	0	0	0	0	1	0	0	0	6659	971	34	3	1711	3	GPR113	2	26535831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34162	26535831	216663542	2249	12566											
C2orf39	92749	broad.mit.edu	37	chr2	26667147	26667147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaaataaagcagttTcaggaggagaaccagtctct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26667147T>C	ENST00000288710.2	+	9	1160	c.1086T>C	c.(1084-1086)ttT>ttC	p.F362F	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	362					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TAAAGCAGTTTCAGGAGGAGA	0.418																																						ENST00000288710.2																			0											c.(1084-1086)ttT>ttC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							113	101	105					2																	26667147		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26667147T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1086T>C	2.37:g.26667147T>C						DRC1_ENST00000483675.1_3'UTR	p.F362F	NM_145038.2	NP_659475.2					9	1160	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1086T>C	CCDS1723.1																																																																																				0.418	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		14	307	0	0	0	1	0	14	307					C	26667147	T	C	26667147	2	2	79	1	0	0	0	0	0	0	0	1	2171	1780	62	4		4	C2orf39	2	26667147	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	131316	26667147	216532226	2250	12567											
OTOF	9381	broad.mit.edu	37	chr2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtcggcggcaaagaggCtgcgggcctggtacatgtgc	17	10	0	1	rs397515596		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					GGCAAAGAGGCTGCGGGCCTG	0.652																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(2911-2913)aGc>aTc		otoferlin							43	39	40					2																	26698861		2201	4295	6496	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.chr2:26698861C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2912G>T	2.37:g.26698861C>A	ENSP00000272371:p.Ser971Ile					OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	p.S971I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			24	3038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		971			C2 3.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2912G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			37	112	1	0	2.35968e-33	1	2.79644e-33	37	112					A	26698861	C	A	26698861	3	1	79	1	0	0	0	0	1	0	0	0	11345	797	28	3	3358	3	OTOF	2	26698861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31714	26698861	216500512	2251	12568											
OTOF	9381	broad.mit.edu	37	chr2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcccgctgctgacctttgtCtccgtcattagaaatcttgc	7	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	525					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)			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)					TGACCTTTGTCTCCGTCATTA	0.572																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(1573-1575)Gac>Aac		otoferlin							69	64	65					2																	26705280		2203	4299	6502	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.chr2:26705280C>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.1573G>A	2.37:g.26705280C>T	ENSP00000272371:p.Asp525Asn					OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			14	1699	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		525					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1573G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272530	0.95429	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80738	-1.41;-1.41	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049114	0.85682	D	0.000000	D	0.89536	0.6743	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88357	0.2985	10	0.33940	T	0.23	-40.0469	18.1792	0.89772	0.0:1.0:0.0:0.0	.	525	Q9HC10	OTOF_HUMAN	N	525	ENSP00000272371:D525N;ENSP00000385255:D525N	ENSP00000272371:D525N	D	-	1	0	OTOF	26558784	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.770000	0.85390	2.396000	0.81511	0.561000	0.74099	GAC		0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			91	295	0	0	0	1	0	91	295					T	26705280	C	T	26705280	3	4	79	1	0	0	0	0	1	0	0	0	11345	913	32	2	4881	2	OTOF	2	26705280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6419	26705280	216494093	2252	12569											
OTOF	9381	broad.mit.edu	37	chr2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatccatgggccgcccaGcacttggctccatcttaatg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					GGGCCGCCCAGCACTTGGCTC	0.552																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(742-744)gCt>gTt		otoferlin							91	81	84					2																	26724644		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.chr2:26724644G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.743C>T	2.37:g.26724644G>A	ENSP00000272371:p.Ala248Val					OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			8	869	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		248			C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.743C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248471	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	C2 membrane targeting protein (1);	0.048531	0.85682	D	0.000000	T	0.78629	0.4313	L	0.47716	1.5	0.54753	D	0.999984	P	0.46395	0.877	B	0.43360	0.417	T	0.76421	-0.2965	10	0.30078	T	0.28	-14.7144	18.6464	0.91411	0.0:0.0:1.0:0.0	.	248	Q9HC10	OTOF_HUMAN	V	248	ENSP00000272371:A248V;ENSP00000385255:A248V	ENSP00000272371:A248V	A	-	2	0	OTOF	26578148	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.471000	0.97696	2.746000	0.94184	0.655000	0.94253	GCT		0.552	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			46	266	0	0	0	1	0	46	266					A	26724644	G	A	26724644	3	1	79	1	0	0	0	0	1	0	0	0	11345	971	34	2	5735	2	OTOF	2	26724644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	26724644	216474729	2253	12570											
C2orf70	339778	broad.mit.edu	37	chr2	26798779	26798779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcggcaggtaccagggCcacgtccccactgtggcctt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26798779C>T	ENST00000329615.3	+	2	115	c.84C>T	c.(82-84)ggC>ggT	p.G28G	C2orf70_ENST00000409392.1_Missense_Mutation_p.P16S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	28						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GGTACCAGGGCCACGTCCCCA	0.612																																						ENST00000409392.1																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(46-48)Cca>Tca		chromosome 2 open reading frame 70							47	51	50					2																	26798779		2044	4181	6225	SO:0001819	synonymous_variant	339778							g.chr2:26798779C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"hypothetical protein LOC339778"						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.84C>T	2.37:g.26798779C>T						C2orf70_ENST00000329615.3_Silent_p.G28G	p.P16S			A6NJV1	CB070_HUMAN			3	148	+			0						Missense_Mutation	SNP	ENST00000329615.3	37	c.46C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257120	0.10239	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	3.6	0.41247	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	T	0.40117	-0.9580	5	0.87932	D	0	-27.9536	11.0531	0.47903	0.0:0.8991:0.0:0.1009	.	.	.	.	S	16	.	ENSP00000386615:P16S	P	+	1	0	C2orf70	26652283	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	0.379000	0.20585	2.196000	0.70406	0.462000	0.41574	CCA		0.612	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		14	353	0	0	0	1	0	14	353					T	26798779	C	T	26798779	2	4	79	1	0	0	0	0	0	0	0	1	2197	726	26	2		2	C2orf70	2	26798779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74135	26798779	216400594	2254	12571											
KCNK3	3777	broad.mit.edu	37	chr2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctacttcgccatcaccGtcatcaccaccatcggtaac	4	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	90					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGCCATCACCGTCATCACCAC	0.746																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(268-270)Gtc>Atc		potassium channel, subfamily K, member 3							16	18	17					2																	26916011		2151	4237	6388	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26916011G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.268G>A	2.37:g.26916011G>A	ENSP00000306275:p.Val90Ile						p.V90I	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			1	393	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		90					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.268G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419167	0.83559	.	.	ENSG00000171303	ENST00000302909	T	0.24908	1.83	3.15	3.15	0.36227	Ion transport 2 (1);	0.000000	0.64402	D	0.000006	T	0.43211	0.1237	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.41840	-0.9486	10	0.87932	D	0	.	11.793	0.52080	0.0:0.0:1.0:0.0	.	90	O14649	KCNK3_HUMAN	I	90	ENSP00000306275:V90I	ENSP00000306275:V90I	V	+	1	0	KCNK3	26769515	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.776000	0.91776	1.625000	0.50366	0.305000	0.20034	GTC		0.746	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		126	256	0	0	0	1	0	126	256					A	26916011	G	A	26916011	3	1	79	1	0	0	0	0	1	0	0	0	8097	1145	40	1	270	1	KCNK3	2	26916011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117232	26916011	216283362	2255	12572											
KCNK3	3777	broad.mit.edu	37	chr2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaggggctgggcatgCggcgcgccgacgtgtccatg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCTGGGCATGCGGCGCGCCGA	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)Cgg>Tgg		potassium channel, subfamily K, member 3							71	66	68					2																	26950699		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950699C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.448C>T	2.37:g.26950699C>T	ENSP00000306275:p.Arg150Trp						p.R150W	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	573	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.448C>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754335	0.69648	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22945	1.93	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.83483	2.645	0.47511	D	0.999448	D	0.76494	0.999	D	0.67548	0.952	T	0.55860	-0.8074	10	0.87932	D	0	.	11.7912	0.52070	0.1755:0.8245:0.0:0.0	.	150	O14649	KCNK3_HUMAN	W	27;150	ENSP00000306275:R150W	ENSP00000306275:R150W	R	+	1	2	KCNK3	26804203	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		102	480	0	0	0	1	0	102	480					T	26950699	C	T	26950699	3	4	79	1	0	0	0	0	1	0	0	0	8097	759	27	1	454	1	KCNK3	2	26950699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34688	26950699	216248674	2256	12573											
KCNK3	3777	broad.mit.edu	37	chr2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccaggccctgcagaCgcagccgcagtacgtggcct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	216					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCCCTGCAGACGCAGCCGCAG	0.607																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(646-648)aCg>aTg		potassium channel, subfamily K, member 3							80	63	69					2																	26950898		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950898C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.647C>T	2.37:g.26950898C>T	ENSP00000306275:p.Thr216Met						p.T216M	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	772	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		216					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.647C>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.341845	0.61073	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.25250	1.81	4.72	4.72	0.59763	Ion transport 2 (1);	0.255913	0.36893	N	0.002358	T	0.36441	0.0967	L	0.38175	1.15	0.46044	D	0.99883	P	0.50272	0.933	P	0.56788	0.806	T	0.11991	-1.0565	10	0.62326	D	0.03	.	15.5289	0.75936	0.0:1.0:0.0:0.0	.	216	O14649	KCNK3_HUMAN	M	93;216	ENSP00000306275:T216M	ENSP00000306275:T216M	T	+	2	0	KCNK3	26804402	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	1.475000	0.35409	2.303000	0.77524	0.556000	0.70494	ACG		0.607	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		42	218	0	0	0	1	0	42	218					T	26950898	C	T	26950898	3	4	79	1	0	0	0	0	1	0	0	0	8097	536	19	1	653	1	KCNK3	2	26950898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	26950898	216248475	2257	12574											
KCNK3	3777	broad.mit.edu	37	chr2	26951010	26951010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccatgaacgccgaggaCgagaagcgcgacgccgagca	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	ENST00000302909.3	+	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	253					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	ACGCCGAGGACGAGAAGCGCG	0.682																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(757-759)gaC>gaT		potassium channel, subfamily K, member 3							47	35	39					2																	26951010		2201	4299	6500	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951010C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.759C>T	2.37:g.26951010C>T							p.D253D	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	884	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		253					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.759C>T	CCDS1727.1																																																																																				0.682	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		31	48	0	0	0	1	0	31	48					T	26951010	C	T	26951010	2	4	79	1	0	0	0	0	0	0	0	1	8097	535	19	1		1	KCNK3	2	26951010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	26951010	216248363	2258	12575											
KCNK3	3777	broad.mit.edu	37	chr2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcgcgacgctgcctgtGcagcggggcgccacgctccg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	363					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGCTGCCTGTGCAGCGGGGCG	0.716																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1087-1089)tGc>tAc		potassium channel, subfamily K, member 3							11	10	10					2																	26951339		2179	4255	6434	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951339G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1088G>A	2.37:g.26951339G>A	ENSP00000306275:p.Cys363Tyr						p.C363Y	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	1213	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		363					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.1088G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202469	0.58234	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22134	1.97	3.35	3.35	0.38373	.	1.338500	0.04478	N	0.377265	T	0.34571	0.0902	L	0.55481	1.735	0.51482	D	0.999926	D	0.69078	0.997	P	0.60682	0.878	T	0.54289	-0.8316	10	0.02654	T	1	.	10.5589	0.45133	0.0:0.0:1.0:0.0	.	363	O14649	KCNK3_HUMAN	Y	240;363	ENSP00000306275:C363Y	ENSP00000306275:C363Y	C	+	2	0	KCNK3	26804843	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.760000	0.62235	2.198000	0.70561	0.555000	0.69702	TGC		0.716	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		14	40	0	0	0	1	0	14	40					A	26951339	G	A	26951339	3	1	79	1	0	0	0	0	1	0	0	0	8097	1319	46	2	1094	2	KCNK3	2	26951339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	26951339	216248034	2259	12576											
C2orf18	54978	broad.mit.edu	37	chr2	26999265	26999265	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgttgatcatcatggcccaGatcatcgttgccatccagat	8	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26999265G>T	ENST00000344420.5	+	5	623	c.561G>T	c.(559-561)caG>caT	p.Q187H	SLC35F6_ENST00000416475.2_Missense_Mutation_p.Q104H|SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	187					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCATGGCCCAGATCATCGTTG	0.592																																						ENST00000344420.5																			0											c.(559-561)caG>caT		solute carrier family 35, member F6							117	94	102					2																	26999265		2203	4300	6503	SO:0001583	missense	54978							g.chr2:26999265G>T	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.561G>T	2.37:g.26999265G>T	ENSP00000345528:p.Gln187His					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.Q104H|SLC35F6_ENST00000482746.1_Intron	p.Q187H	NM_017877.3	NP_060347.2					5	623	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.561G>T	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299274	0.81136	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.12	4.24	0.50183	.	0.111106	0.64402	D	0.000006	D	0.84871	0.5568	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73708	0.975;0.981	D	0.87155	0.2211	9	0.45353	T	0.12	.	12.7857	0.57504	0.0819:0.0:0.9181:0.0	.	104;187	B4DLH2;Q8N357	.;CB018_HUMAN	H	187;104	.	ENSP00000345528:Q187H	Q	+	3	2	C2orf18	26852769	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.896000	0.63222	2.395000	0.81488	0.561000	0.74099	CAG		0.592	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		83	253	1	0	5.42381e-49	1	6.70277e-49	83	253					T	26999265	G	T	26999265	3	4	79	1	0	0	0	0	1	0	0	0	2165	933	33	3	579	3	C2orf18	2	26999265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47926	26999265	216200108	2260	12577											
C2orf18	54978	broad.mit.edu	37	chr2	27000925	27000925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcctctttggctttgTgatcctctccctgctgctgg	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27000925T>G	ENST00000344420.5	+	6	724	c.662T>G	c.(661-663)gTg>gGg	p.V221G	SLC35F6_ENST00000416475.2_Missense_Mutation_p.V138G|SLC35F6_ENST00000482746.1_3'UTR|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	221					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TTTGGCTTTGTGATCCTCTCC	0.607																																						ENST00000344420.5																			0											c.(661-663)gTg>gGg		solute carrier family 35, member F6							150	137	142					2																	27000925		2203	4300	6503	SO:0001583	missense	54978							g.chr2:27000925T>G	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.662T>G	2.37:g.27000925T>G	ENSP00000345528:p.Val221Gly					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.V138G|SLC35F6_ENST00000482746.1_3'UTR	p.V221G	NM_017877.3	NP_060347.2					6	724	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.662T>G	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477788	0.44044	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.35	5.35	0.76521	.	0.173476	0.49916	D	0.000131	T	0.57184	0.2036	L	0.52126	1.63	0.80722	D	1	B;B;B	0.19445	0.008;0.036;0.001	B;B;B	0.19666	0.006;0.026;0.006	T	0.54323	-0.8311	9	0.37606	T	0.19	.	14.1701	0.65503	0.0:0.0:0.0:1.0	.	74;138;221	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	G	221;138	.	ENSP00000345528:V221G	V	+	2	0	C2orf18	26854429	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.519000	0.67074	2.037000	0.60232	0.459000	0.35465	GTG		0.607	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		98	316	0	0	0	1	0	98	316					G	27000925	T	G	27000925	3	3	79	1	0	0	0	0	1	0	0	0	2165	1696	59	4	684	4	C2orf18	2	27000925	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1660	27000925	216198448	2261	12578											
DPYSL5	56896	broad.mit.edu	37	chr2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctggaagctgaagccactCatcgtgttatcaccattgca	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	230					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(688-690)Cat>Tat		dihydropyrimidinase-like 5							221	190	200					2																	27154526		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27154526C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.688C>T	2.37:g.27154526C>T	ENSP00000288699:p.His230Tyr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			6	846	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		230					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.688C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267448	0.40095	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89746	-2.56;-2.56	6.08	6.08	0.98989	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.20483	0.58	0.54753	D	0.999989	B	0.13594	0.008	B	0.20577	0.03	T	0.74819	-0.3535	10	0.05351	T	0.99	-23.087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	230	Q9BPU6	DPYL5_HUMAN	Y	230	ENSP00000288699:H230Y;ENSP00000385549:H230Y	ENSP00000288699:H230Y	H	+	1	0	DPYSL5	27008030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.894000	0.99253	0.591000	0.81541	CAT		0.502	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		80	243	0	0	0	1	0	80	243					T	27154526	C	T	27154526	3	4	79	1	0	0	0	0	1	0	0	0	4766	826	29	2	706	2	DPYSL5	2	27154526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153601	27154526	216044847	2262	12579											
MAPRE3	22924	broad.mit.edu	37	chr2	27247044	27247044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttaagaaattctttgaCgcaaactatgatggaaagga	10	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27247044C>T	ENST00000233121.2	+	4	546	c.348C>T	c.(346-348)gaC>gaT	p.D116D	MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTCTTTGACGCAAACTATG	0.423																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(346-348)gaC>gaT		microtubule-associated protein, RP/EB family, member 3							58	60	59					2																	27247044		2203	4300	6503	SO:0001819	synonymous_variant	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27247044C>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.348C>T	2.37:g.27247044C>T						MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D	p.D116D			Q9UPY8	MARE3_HUMAN			4	546	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		116			CH.		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	c.348C>T	CCDS1731.1																																																																																				0.423	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		11	354	0	0	0	1	0	11	354					T	27247044	C	T	27247044	2	4	79	1	0	0	0	0	0	0	0	1	9337	535	19	1		1	MAPRE3	2	27247044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92518	27247044	215952329	2263	12580											
TMEM214	54867	broad.mit.edu	37	chr2	27256991	27256991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgagaatatcatgaagCggcagaataaggagcaggtc	13	6	1	3	rs199619457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27256991C>T	ENST00000238788.9	+	2	270	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	70					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TATCATGAAGCGGCAGAATAA	0.532																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(208-210)Cgg>Tgg		transmembrane protein 214							95	96	96					2																	27256991		1941	4140	6081	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27256991C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.208C>T	2.37:g.27256991C>T	ENSP00000238788:p.Arg70Trp					TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			2	270	+			70					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.208C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217661	0.79352	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86627	-2.15;-2.15	5.07	1.71	0.24356	.	0.312621	0.28712	N	0.014400	D	0.84602	0.5508	L	0.36672	1.1	0.27877	N	0.939838	D;D	0.69078	0.997;0.995	P;P	0.50708	0.648;0.639	T	0.79567	-0.1750	10	0.72032	D	0.01	-9.5612	12.3636	0.55217	0.543:0.4569:0.0:0.0	.	70;70	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	W	70	ENSP00000238788:R70W;ENSP00000384417:R70W	ENSP00000238788:R70W	R	+	1	2	TMEM214	27110495	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.689000	0.37700	0.455000	0.26910	0.462000	0.41574	CGG		0.532	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		18	516	0	0	0	1	0	18	516					T	27256991	C	T	27256991	3	4	79	1	0	0	0	0	1	0	0	0	16189	759	27	1	214	1	TMEM214	2	27256991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9947	27256991	215942382	2264	12581											
TMEM214	54867	broad.mit.edu	37	chr2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatccgagggctgctggCgaaggcagcagggtctctgg	17	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(559-561)gCg>gTg		transmembrane protein 214							107	111	110					2																	27258519		1944	4135	6079	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27258519C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.560C>T	2.37:g.27258519C>T	ENSP00000238788:p.Ala187Val					TMEM214_ENST00000404032.3_Intron	p.A187V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			4	622	+			187					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.560C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596600	0.46318	.	.	ENSG00000119777	ENST00000238788	T	0.44482	0.92	5.67	3.83	0.44106	.	0.332353	0.32273	N	0.006326	T	0.27419	0.0673	N	0.19112	0.55	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05370	-1.0889	10	0.29301	T	0.29	-0.2477	12.3036	0.54889	0.0:0.7561:0.1646:0.0794	.	187	Q6NUQ4	TM214_HUMAN	V	187	ENSP00000238788:A187V	ENSP00000238788:A187V	A	+	2	0	TMEM214	27112023	0.073000	0.21202	0.046000	0.18839	0.990000	0.78478	0.348000	0.20031	1.392000	0.46585	0.561000	0.74099	GCG		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		52	561	0	0	0	1	0	52	561					T	27258519	C	T	27258519	3	4	79	1	0	0	0	0	1	0	0	0	16189	768	27	1	574	1	TMEM214	2	27258519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528	27258519	215940854	2265	12582											
TMEM214	54867	broad.mit.edu	37	chr2	27258869	27258869	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggttaccgcatctgtatCcaggccatcctgcaagacaa	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512																																						ENST00000238788.9																			1	Substitution - coding silent(1)	p.I223I(1)	kidney(1)	kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(667-669)atC>atT		transmembrane protein 214							98	99	99					2																	27258869		2114	4241	6355	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258869C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.669C>T	2.37:g.27258869C>T						TMEM214_ENST00000404032.3_Silent_p.I178I	p.I223I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			5	731	+			223					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.669C>T	CCDS42664.1																																																																																				0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		6	216	0	0	0	1	0	6	216					T	27258869	C	T	27258869	2	4	79	1	0	0	0	0	0	0	0	1	16189	845	30	2		2	TMEM214	2	27258869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350	27258869	215940504	2266	12583											
TMEM214	54867	broad.mit.edu	37	chr2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccttactggccggttgCttcgatcatctggcttctta	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	516					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1546-1548)Ctt>Att		transmembrane protein 214							150	152	151					2																	27262629		2049	4190	6239	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27262629C>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1546C>A	2.37:g.27262629C>A	ENSP00000238788:p.Leu516Ile					TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	p.L516I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			14	1608	+			516					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1546C>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937911	0.73557	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135	T;T;T	0.52983	0.64;0.64;0.64	5.59	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76328	2.33	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.67975	-0.5531	10	0.72032	D	0.01	-12.0634	10.6416	0.45596	0.0:0.8766:0.0:0.1234	.	471;516	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	I	516;471;256;176	ENSP00000238788:L516I;ENSP00000384417:L471I;ENSP00000392442:L176I	ENSP00000238788:L516I	L	+	1	0	TMEM214	27116133	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.541000	0.36126	2.640000	0.89533	0.561000	0.74099	CTT		0.597	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		146	426	1	0	1.09339e-60	1	1.37559e-60	146	426					A	27262629	C	A	27262629	3	1	79	1	0	0	0	0	1	0	0	0	16189	797	28	3	1600	3	TMEM214	2	27262629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3760	27262629	215936744	2267	12584											
TMEM214	54867	broad.mit.edu	37	chr2	27263359	27263359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagcactgccatgaggcAtgcaggtgagacctttgccc	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	646					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1936-1938)gcA>gcG		transmembrane protein 214							53	52	52					2																	27263359		1985	4148	6133	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27263359A>G		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1938A>G	2.37:g.27263359A>G						TMEM214_ENST00000404032.3_Silent_p.A601A	p.A646A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			16	2000	+			646					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.1938A>G	CCDS42664.1																																																																																				0.637	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		98	269	0	0	0	1	0	98	269					G	27263359	A	G	27263359	2	3	79	1	0	0	0	0	0	0	0	1	16189	204	8	4		4	TMEM214	2	27263359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	730	27263359	215936014	2268	12585											
AGBL5	60509	broad.mit.edu	37	chr2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccgaaaacaccttgagtCgggcacgaagttttagcacc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	638					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1912-1914)Cgg>Tgg		ATP/GTP binding protein-like 5							79	87	84					2																	27282095		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27282095C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1912C>T	2.37:g.27282095C>T	ENSP00000353249:p.Arg638Trp					AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			11	2071	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1912C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002345	0.74932	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.18657	2.3;2.2	5.76	4.89	0.63831	.	0.110266	0.64402	D	0.000005	T	0.39009	0.1062	L	0.53249	1.67	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19160	-1.0314	10	0.87932	D	0	-29.0721	9.6109	0.39663	0.14:0.7885:0.0:0.0715	.	638;638	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	W	638	ENSP00000323681:R638W;ENSP00000353249:R638W	ENSP00000323681:R638W	R	+	1	2	AGBL5	27135599	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.550000	0.36223	1.436000	0.47453	0.655000	0.94253	CGG		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		166	757	0	0	0	1	0	166	757					T	27282095	C	T	27282095	3	4	79	1	0	0	0	0	1	0	0	0	378	875	31	1	1950	1	AGBL5	2	27282095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18736	27282095	215917278	2269	12586											
ABHD1	84696	broad.mit.edu	37	chr2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcccctcactgctgggCtctgccaacttgtggaacgg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	258						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(772-774)Ctc>Ttc		abhydrolase domain containing 1							52	50	50					2																	27352776		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27352776C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"Abhydrolase domain containing"	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.772C>T	2.37:g.27352776C>T	ENSP00000326491:p.Leu258Phe						p.L258F	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			6	886	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.772C>T	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131254	0.56828	.	.	ENSG00000143994	ENST00000316470	T	0.71222	-0.55	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	D	0.88005	0.6321	M	0.93808	3.46	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	D	0.90798	0.4692	10	0.87932	D	0	-15.2943	16.0869	0.81060	0.0:1.0:0.0:0.0	.	258	Q96SE0	ABHD1_HUMAN	F	258	ENSP00000326491:L258F	ENSP00000326491:L258F	L	+	1	0	ABHD1	27206280	0.986000	0.35501	0.962000	0.40283	0.262000	0.26303	2.752000	0.47516	2.655000	0.90218	0.655000	0.94253	CTC		0.562	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		41	184	0	0	0	1	0	41	184					T	27352776	C	T	27352776	3	4	79	1	0	0	0	0	1	0	0	0	73	797	28	2	794	2	ABHD1	2	27352776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70681	27352776	215846597	2270	12587											
TCF23	150921	broad.mit.edu	37	chr2	27372993	27372993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccctctgtgcagagCgaggccagtcctgagaatgc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(223-225)agC>agT		transcription factor 23							41	46	44					2																	27372993		2202	4300	6502	SO:0001819	synonymous_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372993C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	2.37:g.27372993C>T							p.S75S	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	355	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		75					B2RNZ3	Silent	SNP	ENST00000296096.5	37	c.225C>T	CCDS33163.1																																																																																				0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		12	439	0	0	0	1	0	12	439					T	27372993	C	T	27372993	2	4	79	1	0	0	0	0	0	0	0	1	15744	767	27	1		1	TCF23	2	27372993	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20217	27372993	215826380	2271	12588											
CAD	790	broad.mit.edu	37	chr2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgatacgtaatgaacGccccgatggtgtgttactga	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000403525.1	+	11	1547	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000264705.4_Missense_Mutation_p.R468H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R468H(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTAATGAACGCCCCGATGGT	0.552																																						ENST00000264705.4																			1	Substitution - Missense(1)	p.R468H(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1402-1404)cGc>cAc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						82	75	77					2																	27447894		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447894G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1403G>A	2.37:g.27447894G>A	ENSP00000384510:p.Arg468His					CAD_ENST00000403525.1_Missense_Mutation_p.R468H	p.R468H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1565	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		468			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1403G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.791593	0.90367	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95447	-3.71;-3.71	5.13	5.13	0.70059	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.98423	1.0578	10	0.72032	D	0.01	-1.0777	17.111	0.86674	0.0:0.0:1.0:0.0	.	468;468	F8VPD4;P27708	.;PYR1_HUMAN	H	468	ENSP00000264705:R468H;ENSP00000384510:R468H	ENSP00000264705:R468H	R	+	2	0	CAD	27301398	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	9.229000	0.95273	2.383000	0.81215	0.462000	0.41574	CGC		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			45	242	0	0	0	1	0	45	242					A	27447894	G	A	27447894	3	1	79	1	0	0	0	0	1	0	0	0	2572	1087	38	1	1445	1	CAD	2	27447894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74901	27447894	215751479	2272	12589											
CAD	790	broad.mit.edu	37	chr2	27449826	27449826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgggagctgcatgaagagCgttggtgagactcatgccct	14	8	1	3	rs542135109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000403525.1	+	14	2238	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	CAD_ENST00000264705.4_Silent_p.S761S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGAAGAGCGTTGGTGAGA	0.527																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2281-2283)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						94	94	94					2																	27449826		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449826C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2094C>T	2.37:g.27449826C>T						CAD_ENST00000403525.1_Silent_p.S698S	p.S761S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			15	2445	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		761			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2283C>T																																																																																					0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			83	483	0	0	0	1	0	83	483					T	27449826	C	T	27449826	2	4	79	1	0	0	0	0	0	0	0	1	2572	767	27	1		1	CAD	2	27449826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1932	27449826	215749547	2273	12590											
CAD	790	broad.mit.edu	37	chr2	27454442	27454442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagtgaaaccagtcagCgatatggtaagtagctcccc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000403525.1	+	15	2349	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Silent_p.S798S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGTCAGCGATATGGTAA	0.532																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2392-2394)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						122	101	108					2																	27454442		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454442C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2205C>T	2.37:g.27454442C>T						CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.S735S	p.S798S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			16	2556	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		798			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2394C>T																																																																																					0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			32	148	0	0	0	1	0	32	148					T	27454442	C	T	27454442	2	4	79	1	0	0	0	0	0	0	0	1	2572	767	27	1		1	CAD	2	27454442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	27454442	215744931	2274	12591											
CAD	790	broad.mit.edu	37	chr2	27455960	27455960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagagacagtcagcacCgactatgacatgtgtgatcg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000403525.1	+	18	2898	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	CAD_ENST00000264705.4_Silent_p.T981T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTCAGCACCGACTATGACA	0.498																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2941-2943)acC>acT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						214	173	187					2																	27455960		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27455960C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2754C>T	2.37:g.27455960C>T						CAD_ENST00000403525.1_Silent_p.T918T	p.T981T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			19	3105	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		981			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2943C>T																																																																																					0.498	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			11	308	0	0	0	1	0	11	308					T	27455960	C	T	27455960	2	4	79	1	0	0	0	0	0	0	0	1	2572	639	23	1		1	CAD	2	27455960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1518	27455960	215743413	2275	12592											
CAD	790	broad.mit.edu	37	chr2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgcccctcctatgtgCtgagcggtgctgctatgaat	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000403525.1	+	20	3232	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CAD_ENST00000264705.4_Missense_Mutation_p.L1093M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTATGTGCTGAGCGGTGC	0.592																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3277-3279)Ctg>Atg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						69	71	71					2																	27456554		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456554C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3088C>A	2.37:g.27456554C>A	ENSP00000384510:p.Leu1030Met					CAD_ENST00000403525.1_Missense_Mutation_p.L1030M	p.L1093M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			21	3439	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1093			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3277C>A		.	.	.	.	.	.	.	.	.	.	C	28.9	4.956543	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97976	-4.64;-4.64	5.95	5.95	0.96441	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	-1.0788	18.9357	0.92584	0.0:1.0:0.0:0.0	.	1030;1093	F8VPD4;P27708	.;PYR1_HUMAN	M	1093;1030	ENSP00000264705:L1093M;ENSP00000384510:L1030M	ENSP00000264705:L1093M	L	+	1	2	CAD	27310058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.908000	0.48750	2.826000	0.97356	0.491000	0.48974	CTG		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			79	353	1	0	9.61239e-26	1	1.10474e-25	79	353					A	27456554	C	A	27456554	3	1	79	1	0	0	0	0	1	0	0	0	2572	796	28	3	3359	3	CAD	2	27456554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	27456554	215742819	2276	12593											
CAD	790	broad.mit.edu	37	chr2	27460626	27460626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgactttgcgctattccTtggggcctcgtctgaaaatg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27460626T>G	ENST00000403525.1	+	28	4559	c.4415T>G	c.(4414-4416)cTt>cGt	p.L1472R	CAD_ENST00000264705.4_Missense_Mutation_p.L1535R			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGCTATTCCTTGGGGCCTCG	0.617																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4603-4605)cTt>cGt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						50	55	53					2																	27460626		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460626T>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4415T>G	2.37:g.27460626T>G	ENSP00000384510:p.Leu1472Arg					CAD_ENST00000403525.1_Missense_Mutation_p.L1472R	p.L1535R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			29	4766	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1535			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4604T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378391|3.378391	0.61735|0.61735	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|D	0.47869|0.89196	0.83;0.83|-2.48	4.62|4.62	3.45|3.45	0.39498|0.39498	Amidohydrolase 1 (1);|.	0.290888|0.290888	0.33199|0.33199	N|N	0.005177|0.005177	D|D	0.84179|0.84179	0.5415|0.5415	L|L	0.51422|0.51422	1.61|1.61	0.41139|0.41139	D|D	0.985948|0.985948	B;B|.	0.33044|.	0.078;0.395|.	B;B|.	0.39805|.	0.106;0.31|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|8	0.87932|0.02654	D|T	0|1	0.1571|0.1571	9.2306|9.2306	0.37434|0.37434	0.0:0.0881:0.0:0.9119|0.0:0.0881:0.0:0.9119	.|.	1472;1535|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	R|V	1535;1472|187	ENSP00000264705:L1535R;ENSP00000384510:L1472R|ENSP00000414742:L187V	ENSP00000264705:L1535R|ENSP00000414742:L187V	L|L	+|+	2|1	0|2	CAD|CAD	27314130|27314130	1.000000|1.000000	0.71417|0.71417	0.124000|0.124000	0.21820|0.21820	0.800000|0.800000	0.45204|0.45204	5.808000|5.808000	0.69165|0.69165	0.616000|0.616000	0.30141|0.30141	0.374000|0.374000	0.22700|0.22700	CTT|TTG		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			10	409	0	0	0	1	0	10	409					G	27460626	T	G	27460626	3	3	79	1	0	0	0	0	1	0	0	0	2572	1609	56	4	4718	4	CAD	2	27460626	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4072	27460626	215738747	2277	12594											
CAD	790	broad.mit.edu	37	chr2	27464813	27464813	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgttctatgaagtgaGcacacggaccagcagctcct	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	ENST00000403525.1	+	38	5873	c.5729G>C	c.(5728-5730)aGc>aCc	p.S1910T	CAD_ENST00000264705.4_Missense_Mutation_p.S1973T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGAAGTGAGCACACGGACC	0.592																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(5917-5919)aGc>aCc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						62	52	56					2																	27464813		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27464813G>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5729G>C	2.37:g.27464813G>C	ENSP00000384510:p.Ser1910Thr					CAD_ENST00000403525.1_Missense_Mutation_p.S1910T	p.S1973T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			39	6080	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1973			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5918G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.2|26.2|26.2	4.718715|4.718715|4.718715	0.89205|0.89205|0.89205	.|.|.	.|.|.	ENSG00000084774|ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000456311|ENST00000264705;ENST00000403525	.|.|D;D	.|.|0.99784	.|.|-6.74;-6.74	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.99906|0.99906|0.99906	0.9955|0.9955|0.9955	H|H|H	0.99800|0.99800|0.99800	4.79|4.79|4.79	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.997	.|.|D;D	.|.|0.97110	.|.|1.0;0.992	D|D|D	0.95862|0.95862|0.95862	0.8884|0.8884|0.8884	5|5|10	.|.|0.87932	.|.|D	.|.|0	-9.1427|-9.1427|-9.1427	16.9473|16.9473|16.9473	0.86232|0.86232|0.86232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1910;1973	.|.|F8VPD4;P27708	.|.|.;PYR1_HUMAN	P|D|T	9|277|1973;1910	.|.|ENSP00000264705:S1973T;ENSP00000384510:S1910T	.|.|ENSP00000264705:S1973T	A|E|S	+|+|+	1|3|2	0|2|0	CAD|CAD|CAD	27318317|27318317|27318317	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.249000|9.249000|9.249000	0.95470|0.95470|0.95470	2.347000|2.347000|2.347000	0.79759|0.79759|0.79759	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCA|GAG|AGC		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			8	245	0	0	0	1	0	8	245					C	27464813	G	C	27464813	3	2	79	1	0	0	0	0	1	0	0	0	2572	971	34	5	6072	5	CAD	2	27464813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4187	27464813	215734560	2278	12595											
CAD	790	broad.mit.edu	37	chr2	27464907	27464907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgtccgtccagaagggCgaatccctggctgactccgt	11	14	0	2	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000403525.1	+	38	5967	c.5823C>T	c.(5821-5823)ggC>ggT	p.G1941G	CAD_ENST00000264705.4_Silent_p.G2004G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAAGGGCGAATCCCTGG	0.652																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6010-6012)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						50	45	47					2																	27464907		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27464907C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5823C>T	2.37:g.27464907C>T						CAD_ENST00000403525.1_Silent_p.G1941G	p.G2004G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			39	6174	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2004			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.6012C>T		.	.	.	.	.	.	.	.	.	.	C	8.492	0.862142	0.17178	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.2	-6.68	0.01778	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-9.1727	3.1304	0.06421	0.1408:0.3731:0.0805:0.4056	rs61737366	.	.	.	V	40	.	.	A	+	2	0	CAD	27318411	0.008000	0.16893	0.454000	0.27019	0.797000	0.45037	-1.082000	0.03400	-1.083000	0.03097	-0.424000	0.05967	GCG		0.652	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			88	266	0	0	0	1	0	88	266					T	27464907	C	T	27464907	2	4	79	1	0	0	0	0	0	0	0	1	2572	755	27	1		1	CAD	2	27464907	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	27464907	215734466	2279	12596											
SLC30A3	7781	broad.mit.edu	37	chr2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggagaagaggaaggtgCtgatggggtcggctgccttg	19	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	269					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(805-807)aGc>aTc		solute carrier family 30 (zinc transporter), member 3							103	111	108					2																	27479733		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479733C>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.806G>T	2.37:g.27479733C>A	ENSP00000233535:p.Ser269Ile					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	p.S269I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			6	1158	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		269					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.806G>T	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135643	0.77662	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.61392	0.11;0.11;0.11	5.34	5.34	0.76211	.	0.087859	0.85682	D	0.000000	T	0.37544	0.1007	N	0.01454	-0.855	0.49389	D	0.999782	B;B	0.26577	0.126;0.153	B;B	0.34346	0.113;0.18	T	0.49204	-0.8964	10	0.87932	D	0	-16.6047	16.9157	0.86150	0.0:1.0:0.0:0.0	.	264;269	F5H3B7;Q99726	.;ZNT3_HUMAN	I	269;264;206;220	ENSP00000233535:S269I;ENSP00000415226:S264I;ENSP00000414320:S220I	ENSP00000233535:S269I	S	-	2	0	SLC30A3	27333237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	2.663000	0.90544	0.555000	0.69702	AGC		0.562	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			67	153	1	0	2.02627e-32	1	2.39265e-32	67	153					A	27479733	C	A	27479733	3	1	79	1	0	0	0	0	1	0	0	0	14606	797	28	3	372	3	SLC30A3	2	27479733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14826	27479733	215719640	2280	12597											
SLC30A3	7781	broad.mit.edu	37	chr2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcccctagacccgtggCtgtgggggggcccagcctgg	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	206					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(616-618)aGc>aAc		solute carrier family 30 (zinc transporter), member 3							17	19	18					2																	27480182		2202	4299	6501	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480182C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.617G>A	2.37:g.27480182C>T	ENSP00000233535:p.Ser206Asn					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	p.S206N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			5	969	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.617G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.80033	-0.38;-0.37;-1.31;-1.33	5.23	5.23	0.72850	.	0.258927	0.43919	D	0.000511	D	0.83064	0.5173	M	0.63428	1.95	0.48395	D	0.999647	P;P	0.45634	0.863;0.774	P;P	0.49953	0.614;0.627	T	0.79848	-0.1630	10	0.21540	T	0.41	-15.5946	16.6802	0.85290	0.0:1.0:0.0:0.0	.	201;206	F5H3B7;Q99726	.;ZNT3_HUMAN	N	206;201;143;157;193	ENSP00000233535:S206N;ENSP00000415226:S201N;ENSP00000414320:S157N;ENSP00000393545:S193N	ENSP00000233535:S206N	S	-	2	0	SLC30A3	27333686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.237000	0.51344	2.605000	0.88082	0.555000	0.69702	AGC		0.662	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	142	0	0	0	1	0	20	142					T	27480182	C	T	27480182	3	4	79	1	0	0	0	0	1	0	0	0	14606	797	28	2	565	2	SLC30A3	2	27480182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	27480182	215719191	2281	12598											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttccccagccattccGcattgcttccccaccctcct	3	22	1	0	rs192714047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(121-123)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							100	97	98					2																	27500629		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500629G>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.121G>A	2.37:g.27500629G>A	ENSP00000296097:p.Ala41Thr					DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron	p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	539	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.121G>A	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	DNAJC5G	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA		0.498	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		148	387	0	0	0	1	0	148	387					A	27500629	G	A	27500629	3	1	79	1	0	0	0	0	1	0	0	0	4668	1087	38	1	127	1	DNAJC5G	2	27500629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20447	27500629	215698744	2282	12599											
TRIM54	57159	broad.mit.edu	37	chr2	27528685	27528685	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatggcgctgtatctccaGgtgggctctaggggagggtg	17	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000380075.2	+	5	1183	c.843G>T	c.(841-843)caG>caT	p.Q281H	TRIM54_ENST00000296098.4_Splice_Site_p.Q323H	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	281	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e6+1		tripartite motif containing 54							22	22	22					2																	27528685		2202	4300	6502	SO:0001630	splice_region_variant	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27528685G>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.843+1G>T	2.37:g.27528685G>T						TRIM54_ENST00000380075.2_Splice_Site_p.Q281_splice	p.Q323_splice	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			6	1239	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281			COS.		A5D8T7|Q53SY4|Q9BYV3	Splice_Site	SNP	ENST00000380075.2	37	c.969_splice	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694982	0.68386	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.54675	0.94;0.56	4.85	4.85	0.62838	COS domain (1);	0.067207	0.64402	D	0.000009	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	B;B	0.23735	0.017;0.09	B;B	0.26202	0.047;0.067	T	0.47787	-0.9090	10	0.87932	D	0	-20.6728	15.4542	0.75299	0.0:0.0:1.0:0.0	.	281;323	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	H	281;102;323	ENSP00000369415:Q281H;ENSP00000296098:Q323H	ENSP00000296098:Q323H	Q	+	3	2	TRIM54	27382189	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.555000	0.98123	2.235000	0.73313	0.561000	0.74099	CAG		0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	Missense_Mutation	8	56	1	0	1.76689e-08	1	1.84553e-08	8	56					T	27528685	G	T	27528685	5	4	79	1	0	0	0	0	0	0	1	0	16581	1014	35	3	991	3	TRIM54	2	27528685	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28056	27528685	215670688	2283	12600											
GTF3C2	2976	broad.mit.edu	37	chr2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatatctggtaatatagCagcaatgagctccccggata	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	732					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAATATAGCAGCAATGAGC	0.423																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(2194-2196)Gct>Act		general transcription factor IIIC, polypeptide 2, beta 110kDa							128	118	121					2																	27551397		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27551397C>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2194G>A	2.37:g.27551397C>T	ENSP00000352536:p.Ala732Thr					GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T	p.A732T			Q8WUA4	TF3C2_HUMAN			16	2623	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		732					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2194G>A	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889692|3.889692	0.72524|0.72524	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.73469|.	-0.75;-0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	WD40 repeat-like-containing domain (1);|.	0.331763|.	0.32935|.	N|.	0.005470|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.12182|0.12182	0.205|0.205	0.35012|0.35012	D|D	0.757022|0.757022	D|.	0.57257|.	0.979|.	P|.	0.51777|.	0.679|.	T|T	0.40794|0.40794	-0.9544|-0.9544	10|5	0.14252|.	T|.	0.57|.	-11.2681|-11.2681	10.1613|10.1613	0.42853|0.42853	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	732|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	732|25	ENSP00000352536:A732T;ENSP00000264720:A732T|.	ENSP00000264720:A732T|.	A|C	-|-	1|2	0|0	GTF3C2|GTF3C2	27404901|27404901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.393000|4.393000	0.59665|0.59665	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.423	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			111	309	0	0	0	1	0	111	309					T	27551397	C	T	27551397	3	4	79	1	0	0	0	0	1	0	0	0	6903	710	25	2	557	2	GTF3C2	2	27551397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22712	27551397	215647976	2284	12601											
GTF3C2	2976	broad.mit.edu	37	chr2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgttgagagctcttcaGccagttcctgaagatacaga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	199					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTCTTCAGCCAGTTCCTG	0.562																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(595-597)gCt>gTt		general transcription factor IIIC, polypeptide 2, beta 110kDa							40	41	41					2																	27565074		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27565074G>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.596C>T	2.37:g.27565074G>A	ENSP00000352536:p.Ala199Val					GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000590383.1_RNA	p.A199V			Q8WUA4	TF3C2_HUMAN			4	1025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		199					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.596C>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908321	0.92107	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	D;D	0.82984	-1.67;-1.67	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	N	0.24115	0.695	0.51482	D	0.999922	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.994;0.978;0.994	D	0.86109	0.1561	10	0.48119	T	0.1	-11.8481	16.7685	0.85529	0.0:0.0:1.0:0.0	.	199;199;199	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	199	ENSP00000352536:A199V;ENSP00000264720:A199V	ENSP00000264720:A199V	A	-	2	0	GTF3C2	27418578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.583000	0.67484	2.570000	0.86706	0.467000	0.42956	GCT		0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			75	179	0	0	0	1	0	75	179					A	27565074	G	A	27565074	3	1	79	1	0	0	0	0	1	0	0	0	6903	971	34	2	2203	2	GTF3C2	2	27565074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13677	27565074	215634299	2285	12602											
SNX17	9784	broad.mit.edu	37	chr2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgagcgcgggcaacaGtgagctcagcctgcagctcc	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	295	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCAACAGTGAGCTCAGC	0.632																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(883-885)aGt>aAt		sorting nexin 17							74	72	73					2																	27598482		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27598482G>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.884G>A	2.37:g.27598482G>A	ENSP00000233575:p.Ser295Asn					SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N	p.S295N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			10	1106	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		295					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.884G>A	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307244	0.23821	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.28069	2.05;1.69;1.63;1.69	5.84	4.91	0.64330	.	0.077057	0.85682	D	0.000000	T	0.04452	0.0122	N	0.00062	-2.325	0.45390	D	0.998378	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43669	-0.9377	10	0.05436	T	0.98	-6.7693	5.6777	0.17757	0.1522:0.1736:0.6742:0.0	.	270;283;275;295	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	295;81;270;81	ENSP00000233575:S295N;ENSP00000441779:S81N;ENSP00000439208:S270N;ENSP00000442567:S81N	ENSP00000233575:S295N	S	+	2	0	SNX17	27451986	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	AGT		0.632	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		112	582	0	0	0	1	0	112	582					A	27598482	G	A	27598482	3	1	79	1	0	0	0	0	1	0	0	0	14938	1029	36	2	922	2	SNX17	2	27598482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33408	27598482	215600891	2286	12603											
PPM1G	5496	broad.mit.edu	37	chr2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accagatgccatcacaggcaAtgaccatgaattcatggtcg	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	438					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1312-1314)aTt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							232	217	222					2																	27605361		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27605361A>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1313T>A	2.37:g.27605361A>T	ENSP00000342778:p.Ile438Asn					PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			8	1577	-	Acute lymphoblastic leukemia(172;0.155)		438						Missense_Mutation	SNP	ENST00000344034.4	37	c.1313T>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943702	0.73672	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.19806	2.12;2.12	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.049370	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93150	3.385	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.67725	0.953;0.876	T	0.68640	-0.5355	10	0.87932	D	0	-6.7713	14.697	0.69129	1.0:0.0:0.0:0.0	.	239;438	Q59GB2;O15355	.;PPM1G_HUMAN	N	438;438;421;239	ENSP00000342778:I438N;ENSP00000264714:I438N	ENSP00000342778:I438N	I	-	2	0	PPM1G	27458865	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.072000	0.93986	2.155000	0.67459	0.533000	0.62120	ATT		0.478	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		227	620	0	0	0	1	0	227	620					T	27605361	A	T	27605361	3	4	79	1	0	0	0	0	1	0	0	0	12387	101	4	5	339	5	PPM1G	2	27605361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6879	27605361	215594012	2287	12604											
NRBP1	29959	broad.mit.edu	37	chr2	27659651	27659651	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatcaacaatcatgtgaaGacttgtcgagaagagcagaa	9	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379863.3_Silent_p.K239K|NRBP1_ENST00000379852.3_Silent_p.K231K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(691-693)aaG>aaA		nuclear receptor binding protein 1							124	106	112					2																	27659651		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27659651G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.693G>A	2.37:g.27659651G>A						NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K	p.K231K			Q9UHY1	NRBP_HUMAN			9	1525	+	Acute lymphoblastic leukemia(172;0.155)		231			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.693G>A	CCDS1753.1																																																																																				0.498	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		82	241	0	0	0	1	0	82	241					A	27659651	G	A	27659651	2	1	79	1	0	0	0	0	0	0	0	1	10684	933	33	2		2	NRBP1	2	27659651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54290	27659651	215539722	2288	12605											
NRBP1	29959	broad.mit.edu	37	chr2	27664444	27664444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttgtcagatgagaatatCcccgagttggcggctgagct	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Silent_p.I494I|NRBP1_ENST00000379852.3_Silent_p.I486I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	486					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1456-1458)atC>atT		nuclear receptor binding protein 1							143	136	139					2																	27664444		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664444C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1458C>T	2.37:g.27664444C>T						NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I	p.I486I			Q9UHY1	NRBP_HUMAN			18	2290	+	Acute lymphoblastic leukemia(172;0.155)		486					B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.1458C>T	CCDS1753.1																																																																																				0.572	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		203	635	0	0	0	1	0	203	635					T	27664444	C	T	27664444	2	4	79	1	0	0	0	0	0	0	0	1	10684	845	30	2		2	NRBP1	2	27664444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4793	27664444	215534929	2289	12606											
IFT172	26160	broad.mit.edu	37	chr2	27670790	27670790	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttttgtagatattgaagttCtagaggtagagggaagaagg	14	2	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e41-1		intraflagellar transport 172 homolog (Chlamydomonas)							76	75	76					2																	27670790		2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27670790C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4429-1G>T	2.37:g.27670790C>A								NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			41	4532	-	Acute lymphoblastic leukemia(172;0.155)							A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	37		CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034579	0.75617	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27524294	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.616000	0.61197	2.524000	0.85096	0.561000	0.74099	.		0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Intron	72	248	1	0	1.15062e-32	1	1.35981e-32	72	248					A	27670790	C	A	27670790	5	1	79	1	0	0	0	0	0	0	1	0	7587	927	32	3	853	3	IFT172	2	27670790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6346	27670790	215528583	2290	12607											
IFT172	26160	broad.mit.edu	37	chr2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcagccacacgctgaGctgcctcccaatcctggtta	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1187					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3559-3561)gCt>gAt		intraflagellar transport 172 homolog (Chlamydomonas)							68	78	75					2																	27677000		2203	4297	6500	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27677000G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3560C>A	2.37:g.27677000G>T	ENSP00000260570:p.Ala1187Asp						p.A1187D	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			33	3663	-	Acute lymphoblastic leukemia(172;0.155)		1187					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3560C>A	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404703|5.404703	0.96051|0.96051	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	T|.	0.55760|.	0.5|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86564|0.86564	0.5963|0.5963	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89274|0.89274	0.3607|0.3607	10|5	0.87932|.	D|.	0|.	-8.8992|-8.8992	18.3852|18.3852	0.90464|0.90464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187|.	Q9UG01|.	IF172_HUMAN|.	D|R	1187|55	ENSP00000260570:A1187D|.	ENSP00000260570:A1187D|.	A|S	-|-	2|3	0|2	IFT172|IFT172	27530504|27530504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.053000|9.053000	0.93860|0.93860	2.693000|2.693000	0.91896|0.91896	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.592	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		157	790	1	0	1.27947e-65	1	1.61794e-65	157	790					T	27677000	G	T	27677000	3	4	79	1	0	0	0	0	1	0	0	0	7587	971	34	3	1753	3	IFT172	2	27677000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6210	27677000	215522373	2291	12608											
IFT172	26160	broad.mit.edu	37	chr2	27680845	27680845	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactgtcacatatagccTggggaaggagatacatctgg	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e28-2		intraflagellar transport 172 homolog (Chlamydomonas)							124	115	118					2																	27680845		2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27680845T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2976-2A>G	2.37:g.27680845T>C								NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			28	3079	-	Acute lymphoblastic leukemia(172;0.155)							A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	37		CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701772	0.48307	.	.	ENSG00000138002	ENST00000260570	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27534349	1.000000	0.71417	0.990000	0.47175	0.378000	0.30076	7.447000	0.80620	2.330000	0.79161	0.533000	0.62120	.		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Intron	121	346	0	0	0	1	0	121	346					C	27680845	T	C	27680845	5	2	79	1	0	0	0	0	0	0	1	0	7587	1594	55	4	2359	4	IFT172	2	27680845	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3845	27680845	215518528	2292	12609											
IFT172	26160	broad.mit.edu	37	chr2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagctcctggtacatgcCcatggcctcctccacagcat	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	713					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2137-2139)Ggc>Agc		intraflagellar transport 172 homolog (Chlamydomonas)							100	86	90					2																	27684682		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27684682C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2137G>A	2.37:g.27684682C>T	ENSP00000260570:p.Gly713Ser						p.G713S	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			21	2240	-	Acute lymphoblastic leukemia(172;0.155)		713					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2137G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185459	0.38609	.	.	ENSG00000138002	ENST00000260570	T	0.20738	2.05	5.46	1.68	0.24146	Tetratricopeptide-like helical (1);	0.542765	0.22378	N	0.060846	T	0.09949	0.0244	N	0.12746	0.255	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.24584	-1.0156	10	0.19147	T	0.46	-3.4826	8.2106	0.31481	0.0:0.6061:0.0:0.3939	.	713	Q9UG01	IF172_HUMAN	S	713	ENSP00000260570:G713S	ENSP00000260570:G713S	G	-	1	0	IFT172	27538186	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.139000	0.31504	0.032000	0.15435	0.591000	0.81541	GGC		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		58	193	0	0	0	1	0	58	193					T	27684682	C	T	27684682	3	4	79	1	0	0	0	0	1	0	0	0	7587	623	22	2	3224	2	IFT172	2	27684682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3837	27684682	215514691	2293	12610											
GCKR	2646	broad.mit.edu	37	chr2	27728602	27728602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgagggtctcagcggCtcctcccggatgaaaggtgg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	256	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.		G -> S (in dbSNP:rs8179212). {ECO:0000269|Ref.3}.		carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(766-768)ggC>ggT		glucokinase (hexokinase 4) regulator							73	69	70					2																	27728602		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728602C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.768C>T	2.37:g.27728602C>T						GCKR_ENST00000424318.2_Silent_p.G66G	p.G256G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	831	+	Acute lymphoblastic leukemia(172;0.155)		256		G -> S (in dbSNP:rs8179212).	SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.768C>T	CCDS1757.1																																																																																				0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		34	333	0	0	0	1	0	34	333					T	27728602	C	T	27728602	2	4	79	1	0	0	0	0	0	0	0	1	6322	784	28	2		2	GCKR	2	27728602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43920	27728602	215470771	2294	12611											
GCKR	2646	broad.mit.edu	37	chr2	27729396	27729396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagctcatcaggtgacCtacagccaaagccccaagat	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	306					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(916-918)acC>acA		glucokinase (hexokinase 4) regulator							100	97	98					2																	27729396		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27729396C>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.918C>A	2.37:g.27729396C>A						GCKR_ENST00000424318.2_Silent_p.T116T	p.T306T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			11	981	+	Acute lymphoblastic leukemia(172;0.155)		306					A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.918C>A	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321828	0.05386	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	2.87	0.33458	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51880	-0.8649	4	.	.	.	-4.4669	8.7283	0.34483	0.0:0.8131:0.0:0.1869	.	.	.	.	H	7	.	.	P	+	2	0	GCKR	27582900	1.000000	0.71417	0.970000	0.41538	0.338000	0.28826	1.012000	0.29924	0.579000	0.29504	-0.251000	0.11542	CCT		0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		59	280	1	0	1.3268e-25	1	1.5239e-25	59	280					A	27729396	C	A	27729396	2	1	79	1	0	0	0	0	0	0	0	1	6322	668	24	3		3	GCKR	2	27729396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	794	27729396	215469977	2295	12612											
GCKR	2646	broad.mit.edu	37	chr2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcctagacaacctcaCggaggtgcagactatagtgg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	417	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1249-1251)aCg>aGg		glucokinase (hexokinase 4) regulator							68	61	63					2																	27730853		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730853C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1250C>G	2.37:g.27730853C>G	ENSP00000264717:p.Thr417Arg					GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	p.T417R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			15	1313	+	Acute lymphoblastic leukemia(172;0.155)		417			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1250C>G	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.050|0.050	-1.253246|-1.253246	0.01457|0.01457	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83163	.|-1.69;-1.69	4.22|4.22	-5.34|-5.34	0.02705|0.02705	.|Sugar isomerase (SIS) (1);	.|1.403430	.|0.04249	.|N	.|0.338374	T|T	0.67477|0.67477	0.2897|0.2897	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15141	.|0.01;0.012;0.01	.|B;B;B	.|0.15870	.|0.006;0.014;0.01	T|T	0.51450|0.51450	-0.8704|-0.8704	5|10	.|0.25106	.|T	.|0.35	0.8822|0.8822	4.6676|4.6676	0.12673|0.12673	0.2519:0.2608:0.0:0.4873|0.2519:0.2608:0.0:0.4873	.|.	.|227;415;417	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	G|R	118|417;227	.|ENSP00000264717:T417R;ENSP00000409109:T227R	.|ENSP00000264717:T417R	R|T	+|+	1|2	2|0	GCKR|GCKR	27584357|27584357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-1.289000|-1.289000	0.02780|0.02780	-1.548000|-1.548000	0.01712|0.01712	-1.648000|-1.648000	0.00760|0.00760	CGG|ACG		0.587	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		28	163	0	0	0	1	0	28	163					G	27730853	C	G	27730853	3	3	79	1	0	0	0	0	1	0	0	0	6322	536	19	5	1308	5	GCKR	2	27730853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	27730853	215468520	2296	12613											
C2orf16	84226	broad.mit.edu	37	chr2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaacagagcctcctaaaGttatggaaactgaggatttg	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	697						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCTCCTAAAGTTATGGAAAC	0.408																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2089-2091)Gtt>Att		chromosome 2 open reading frame 16							75	71	72					2																	27801528		1863	4106	5969	SO:0001583	missense	84226							g.chr2:27801528G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2089G>A	2.37:g.27801528G>A	ENSP00000386190:p.Val697Ile						p.V697I	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2140	+	Acute lymphoblastic leukemia(172;0.155)		697					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2089G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145322	0.06627	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	4.27	1.33	0.21861	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.23419	0.046	T	0.46624	-0.9178	9	0.19590	T	0.45	.	2.6937	0.05128	0.1072:0.1794:0.5284:0.185	.	697	Q68DN1	CB016_HUMAN	I	697	ENSP00000386190:V697I	ENSP00000386190:V697I	V	+	1	0	C2orf16	27655032	0.556000	0.26538	0.135000	0.22099	0.102000	0.19082	0.941000	0.29005	0.277000	0.22141	-0.264000	0.10439	GTT		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		70	474	0	0	0	1	0	70	474					A	27801528	G	A	27801528	3	1	79	1	0	0	0	0	1	0	0	0	2164	1029	36	2	2091	2	C2orf16	2	27801528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70675	27801528	215397845	2297	12614											
C2orf16	84226	broad.mit.edu	37	chr2	27801881	27801881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggaaaacccatgtcctgaGattctaggagtggatgtaat	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	ENST00000408964.2	+	1	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	814						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTCCTGAGATTCTAGGAG	0.398																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2440-2442)gaG>gaT		chromosome 2 open reading frame 16							186	182	183					2																	27801881		1866	4098	5964	SO:0001583	missense	84226							g.chr2:27801881G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2442G>T	2.37:g.27801881G>T	ENSP00000386190:p.Glu814Asp						p.E814D	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2493	+	Acute lymphoblastic leukemia(172;0.155)		814					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2442G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538403	0.45176	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	5.14	2.19	0.27852	.	.	.	.	.	T	0.16769	0.0403	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.10132	-1.0643	9	0.87932	D	0	.	5.7705	0.18251	0.1875:0.1622:0.6503:0.0	.	814	Q68DN1	CB016_HUMAN	D	814	ENSP00000386190:E814D	ENSP00000386190:E814D	E	+	3	2	C2orf16	27655385	0.137000	0.22531	0.546000	0.28166	0.510000	0.34073	0.660000	0.25009	0.685000	0.31468	0.313000	0.20887	GAG		0.398	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		43	1114	1	0	2.47316e-13	1	2.66891e-13	43	1114					T	27801881	G	T	27801881	3	4	79	1	0	0	0	0	1	0	0	0	2164	933	33	3	2444	3	C2orf16	2	27801881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	27801881	215397492	2298	12615											
C2orf16	84226	broad.mit.edu	37	chr2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagctccaccttgtacGcactcctgaaggccatggtg	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1154						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTTGTACGCACTCCTGAA	0.468																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3460-3462)cGc>cAc		chromosome 2 open reading frame 16							94	95	95					2																	27802900		2006	4187	6193	SO:0001583	missense	84226							g.chr2:27802900G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3461G>A	2.37:g.27802900G>A	ENSP00000386190:p.Arg1154His						p.R1154H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3512	+	Acute lymphoblastic leukemia(172;0.155)		1154					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3461G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395537	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	5.19	3.37	0.38596	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.22779	N	0.998746	P	0.38110	0.618	B	0.27380	0.079	T	0.40646	-0.9552	9	0.54805	T	0.06	.	6.8869	0.24208	0.2046:0.0:0.7954:0.0	.	1154	Q68DN1	CB016_HUMAN	H	1154	ENSP00000386190:R1154H	ENSP00000386190:R1154H	R	+	2	0	C2orf16	27656404	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	1.947000	0.40293	1.177000	0.42855	0.467000	0.42956	CGC		0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		189	467	0	0	0	1	0	189	467					A	27802900	G	A	27802900	3	1	79	1	0	0	0	0	1	0	0	0	2164	1087	38	1	3463	1	C2orf16	2	27802900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	27802900	215396473	2299	12616											
C2orf16	84226	broad.mit.edu	37	chr2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcaggcgaggacaacGcagcaggcctgacttagtag	12	11	1	1	rs201320413		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1237						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGAGGACAACGCAGCAGGCCT	0.478																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3709-3711)cGc>cAc		chromosome 2 open reading frame 16		G	HIS/ARG	4,3766		0,4,1881	116	115	115		3710	-2	0	2		115	0,8242		0,0,4121	yes	missense	C2orf16	NM_032266.3	29	0,4,6002	AA,AG,GG		0.0,0.1061,0.0333	benign	1237/1985	27803149	4,12008	1885	4121	6006	SO:0001583	missense	84226							g.chr2:27803149G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3710G>A	2.37:g.27803149G>A	ENSP00000386190:p.Arg1237His						p.R1237H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3761	+	Acute lymphoblastic leukemia(172;0.155)		1237					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3710G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159046	0.01686	0.001061	0.0	ENSG00000221843	ENST00000408964	T	0.05786	3.39	5.05	-1.97	0.07503	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.15499	T	0.54	.	6.9067	0.24313	0.2042:0.2035:0.5923:0.0	.	1237	Q68DN1	CB016_HUMAN	H	1237	ENSP00000386190:R1237H	ENSP00000386190:R1237H	R	+	2	0	C2orf16	27656653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.725000	0.04942	-0.296000	0.08947	0.467000	0.42956	CGC		0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		137	649	0	0	0	1	0	137	649					A	27803149	G	A	27803149	3	1	79	1	0	0	0	0	1	0	0	0	2164	1087	38	1	3712	1	C2orf16	2	27803149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	27803149	215396224	2300	12617											
C2orf16	84226	broad.mit.edu	37	chr2	27803687	27803687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagctgacaagctaacGccagcaggctcaaccattaa	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1416						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGCTAACGCCAGCAGGCT	0.463																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4246-4248)acG>acA		chromosome 2 open reading frame 16							85	88	87					2																	27803687		2023	4178	6201	SO:0001819	synonymous_variant	84226							g.chr2:27803687G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4248G>A	2.37:g.27803687G>A							p.T1416T	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4299	+	Acute lymphoblastic leukemia(172;0.155)		1416					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.4248G>A	CCDS42666.1																																																																																				0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		50	567	0	0	0	1	0	50	567					A	27803687	G	A	27803687	2	1	79	1	0	0	0	0	0	0	0	1	2164	1074	38	1		1	C2orf16	2	27803687	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	27803687	215395686	2301	12618											
C2orf16	84226	broad.mit.edu	37	chr2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcagagagaagccatcGcagtccctcagagagaagcc	10	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTCCCTCA	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4963-4965)cGc>cAc		chromosome 2 open reading frame 16																																				SO:0001583	missense	84226							g.chr2:27804403G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4964G>A	2.37:g.27804403G>A	ENSP00000386190:p.Arg1655His						p.R1655H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5015	+	Acute lymphoblastic leukemia(172;0.155)		1655			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4964G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823735	0.32237	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.39	-4.4	0.03600	.	.	.	.	.	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41360	-0.9513	9	0.48119	T	0.1	.	1.1788	0.01841	0.3834:0.2679:0.2131:0.1356	.	1655	Q68DN1	CB016_HUMAN	H	1655	ENSP00000386190:R1655H	ENSP00000386190:R1655H	R	+	2	0	C2orf16	27657907	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.704000	0.00822	-1.327000	0.02264	-0.657000	0.03884	CGC		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		387	1050	0	0	0	1	0	387	1050					A	27804403	G	A	27804403	3	1	79	1	0	0	0	0	1	0	0	0	2164	1087	38	1	4966	1	C2orf16	2	27804403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	27804403	215394970	2302	12619											
GPN1	11321	broad.mit.edu	37	chr2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctatgtaatggacacatCgagaagtaccaacccagtga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000610189.1	+	7	480	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000264718.3_Missense_Mutation_p.S172L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448																																						ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(514-516)tCg>tTg		GPN-loop GTPase 1							233	209	217					2																	27858050		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27858050C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.473C>T	2.37:g.27858050C>T	ENSP00000476446:p.Ser158Leu					GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR	p.S172L	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			7	536	+			158						Missense_Mutation	SNP	ENST00000610189.1	37	c.515C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173807	0.78452	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.46885	1.475	0.58432	D	0.999999	B;P;B;P	0.48503	0.163;0.911;0.386;0.64	B;P;B;B	0.47206	0.046;0.541;0.108;0.265	T	0.00271	-1.1859	9	.	.	.	-16.5273	17.1122	0.86679	0.0:1.0:0.0:0.0	.	158;172;63;146	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	L	79;63;63;79;146;172	ENSP00000424678:S79L;ENSP00000427269:S63L;ENSP00000412170:S63L;ENSP00000398115:S79L;ENSP00000384255:S146L;ENSP00000264718:S172L	.	S	+	2	0	GPN1	27711554	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	7.061000	0.76699	2.820000	0.97059	0.655000	0.94253	TCG		0.448	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		87	446	0	0	0	1	0	87	446					T	27858050	C	T	27858050	3	4	79	1	0	0	0	0	1	0	0	0	6646	893	31	1	624	1	GPN1	2	27858050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53647	27858050	215341323	2303	12620											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27886811	27886811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctctctcagtcagagacCctggcgtcgcaagacctcag	9	14	4	2	rs139689483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T	SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	64						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(190-192)acC>acA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							90	85	87					2																	27886811		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886811C>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.192C>A	2.37:g.27886811C>A							p.T64T	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	474	+	Acute lymphoblastic leukemia(172;0.155)		64					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.192C>A	CCDS33166.1																																																																																				0.592	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		100	589	1	0	3.18938e-35	1	3.80496e-35	100	589					A	27886811	C	A	27886811	2	1	79	1	0	0	0	0	0	0	0	1	14703	610	22	3		3	SLC4A1AP	2	27886811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	27886811	215312562	2304	12621											
RBKS	64080	broad.mit.edu	37	chr2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaccacacatccttcaGcccctaaggtaatgattacc	5	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	238					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(712-714)gCt>gTt		ribokinase							117	110	112					2																	28050516		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28050516G>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.713C>T	2.37:g.28050516G>A	ENSP00000306817:p.Ala238Val					RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			7	1465	-	Acute lymphoblastic leukemia(172;0.155)		238					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.713C>T	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669094	0.47677	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.77750	-1.12;-1.12	5.73	4.84	0.62591	Carbohydrate/purine kinase (1);	0.385463	0.32015	N	0.006714	T	0.77961	0.4209	M	0.74647	2.275	0.36951	D	0.892843	P;P	0.50272	0.873;0.933	B;B	0.43754	0.189;0.43	T	0.82997	-0.0179	10	0.54805	T	0.06	-4.4051	11.6494	0.51279	0.0:0.1345:0.7256:0.1399	.	238;238	B4DV96;Q9H477	.;RBSK_HUMAN	V	238	ENSP00000306817:A238V;ENSP00000413232:A238V	ENSP00000306817:A238V	A	-	2	0	RBKS	27904020	0.952000	0.32445	0.115000	0.21578	0.683000	0.39861	3.493000	0.53266	1.392000	0.46585	0.491000	0.48974	GCT		0.498	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		108	309	0	0	0	1	0	108	309					A	28050516	G	A	28050516	3	1	79	1	0	0	0	0	1	0	0	0	13158	971	34	2	263	2	RBKS	2	28050516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163705	28050516	215148857	2305	12622											
RBKS	64080	broad.mit.edu	37	chr2	28081321	28081321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttacacaccatggaCgtcattgctccaagccgagc	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.418																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(205-207)acG>acA		ribokinase							106	96	100					2																	28081321		2203	4300	6503	SO:0001819	synonymous_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28081321C>T	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.207G>A	2.37:g.28081321C>T						RBKS_ENST00000444339.2_Silent_p.T69T	p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			2	959	-	Acute lymphoblastic leukemia(172;0.155)		69					A9UK04|B4DV96	Silent	SNP	ENST00000302188.3	37	c.207G>A	CCDS1762.1																																																																																				0.418	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		22	306	0	0	0	1	0	22	306					T	28081321	C	T	28081321	2	4	79	1	0	0	0	0	0	0	0	1	13158	523	19	1		1	RBKS	2	28081321	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30805	28081321	215118052	2306	12623											
FOSL2	2355	broad.mit.edu	37	chr2	28634796	28634796	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccctctctttccgtggcaGgagacagaggagctggagga	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28634796G>T	ENST00000264716.4	+	4	1325		c.e4-1		FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000379619.1_Missense_Mutation_p.Q146H	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2						cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTCCGTGGCAGGAGACAGAGG	0.542																																						ENST00000379619.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(436-438)caG>caT		FOS-like antigen 2							38	43	42					2																	28634796		2203	4300	6503	SO:0001630	splice_region_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634796G>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.463-1G>T	2.37:g.28634796G>T						FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000264716.4_Splice_Site	p.Q146H			P15408	FOSL2_HUMAN			4	446	+	Acute lymphoblastic leukemia(172;0.155)		154					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.438G>T	CCDS1766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789324|3.789324	0.70337|0.70337	.|.	.|.	ENSG00000075426|ENSG00000075426	ENST00000264716;ENST00000436647;ENST00000545753|ENST00000379619	.|T	.|0.76709	.|-1.04	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86698	.|0.5995	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86468	.|0.1783	.|6	.|0.49607	.|T	.|0.09	.|.	19.3591|19.3591	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|146	.|ENSP00000368939:Q146H	.|ENSP00000368939:Q146H	.|Q	+|+	.|3	.|2	FOSL2|FOSL2	28488300|28488300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	9.649000|9.649000	0.98487|0.98487	2.746000|2.746000	0.94184|0.94184	0.650000|0.650000	0.86243|0.86243	.|CAG		0.542	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	Intron	8	335	1	0	0.000157383	1	0.000159814	8	335					T	28634796	G	T	28634796	5	4	79	1	0	0	0	0	0	0	1	0	6013	1014	35	3	476	3	FOSL2	2	28634796	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	553475	28634796	214564577	2307	12624											
FOSL2	2355	broad.mit.edu	37	chr2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcgctgtagtggtgaaAcaggagcccctggaagagga	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000264716.4	+	4	1529	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	222					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGTGGTGAAACAGGAGCCCC	0.672																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(664-666)aaA>aaT		FOS-like antigen 2							33	37	36					2																	28635000		2203	4296	6499	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635000A>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.666A>T	2.37:g.28635000A>T	ENSP00000264716:p.Lys222Asn					FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	p.K222N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1529	+	Acute lymphoblastic leukemia(172;0.155)		222					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.666A>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577826	0.45902	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.81499	-1.5;-0.4;-1.36;-1.39	5.05	-5.02	0.02982	.	0.900315	0.08935	U	0.872467	T	0.78304	0.4262	M	0.66378	2.025	0.58432	D	0.999998	B	0.24043	0.096	B	0.18263	0.021	T	0.59440	-0.7454	10	0.66056	D	0.02	-18.8801	17.6979	0.88286	0.1005:0.0:0.8995:0.0	.	222	P15408	FOSL2_HUMAN	N	214;222;183;183	ENSP00000368939:K214N;ENSP00000264716:K222N;ENSP00000396497:K183N;ENSP00000439303:K183N	ENSP00000264716:K222N	K	+	3	2	FOSL2	28488504	0.203000	0.23435	0.741000	0.31004	0.960000	0.62799	-0.018000	0.12568	-1.543000	0.01723	-0.411000	0.06167	AAA		0.672	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		76	412	0	0	0	1	0	76	412					T	28635000	A	T	28635000	3	4	79	1	0	0	0	0	1	0	0	0	6013	40	2	5	680	5	FOSL2	2	28635000	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	204	28635000	214564373	2308	12625											
PLB1	151056	broad.mit.edu	37	chr2	28748771	28748771	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctgcttctacctgcaGgactgaaaggccacagcagg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28748771G>A	ENST00000327757.5	+	6	328		c.e6-1		PLB1_ENST00000422425.2_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTACCTGCAGGACTGAAAGG	0.532																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e6-1		phospholipase B1							121	101	108					2																	28748771		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28748771G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.285-1G>A	2.37:g.28748771G>A						PLB1_ENST00000327757.5_Splice_Site		NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			6	328	+	Acute lymphoblastic leukemia(172;0.155)							A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37		CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812568	0.50527	.	.	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425;ENST00000404858	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3317	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLB1	28602275	1.000000	0.71417	0.907000	0.35723	0.068000	0.16541	4.141000	0.58038	2.779000	0.95612	0.655000	0.94253	.		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Intron	7	227	0	0	0	1	0	7	227					A	28748771	G	A	28748771	5	1	79	1	0	0	0	0	0	0	1	0	12066	1014	35	2	306	2	PLB1	2	28748771	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113771	28748771	214450602	2309	12626											
PPP1CB	5500	broad.mit.edu	37	chr2	29004680	29004680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctatagcagccattgtGgatgagaagatcttctgttg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000296122.6_Silent_p.V164V|PPP1CB_ENST00000358506.2_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(490-492)gtG>gtT		protein phosphatase 1, catalytic subunit, beta isozyme							104	104	104					2																	29004680		2203	4300	6503	SO:0001819	synonymous_variant	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29004680G>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.492G>T	2.37:g.29004680G>T						PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			4	764	+	Acute lymphoblastic leukemia(172;0.155)		164					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Silent	SNP	ENST00000395366.2	37	c.492G>T	CCDS33169.1																																																																																				0.318	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			80	332	1	0	4.78148e-37	1	5.73669e-37	80	332					T	29004680	G	T	29004680	2	4	79	1	0	0	0	0	0	0	0	1	12397	1335	47	3		3	PPP1CB	2	29004680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	29004680	214194693	2310	12627											
TRMT61B	55006	broad.mit.edu	37	chr2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaccgaaggaactcctcaGtatctggccggggaacttcc	10	13	2	0	rs200742289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	201					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(601-603)Ctg>Atg		tRNA methyltransferase 61 homolog B (S. cerevisiae)							124	132	130					2																	29092543		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092543G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.601C>A	2.37:g.29092543G>T	ENSP00000302801:p.Leu201Met						p.L201M	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	624	-			201					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.601C>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277361	0.59758	.	.	ENSG00000171103	ENST00000306108	T	0.27402	1.67	5.5	2.6	0.31112	.	0.482216	0.18300	N	0.145454	T	0.44008	0.1273	L	0.54323	1.7	0.09310	N	1	P;D	0.65815	0.809;0.995	P;D	0.64595	0.66;0.927	T	0.11012	-1.0605	10	0.54805	T	0.06	1.1401	8.9325	0.35680	0.1226:0.128:0.7494:0.0	.	201;201	F8WDR2;Q9BVS5	.;TR61B_HUMAN	M	201	ENSP00000302801:L201M	ENSP00000302801:L201M	L	-	1	2	TRMT61B	28946047	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	0.067000	0.14510	1.259000	0.44117	0.561000	0.74099	CTG		0.468	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		132	744	1	0	2.13359e-52	1	2.6535e-52	132	744					T	29092543	G	T	29092543	3	4	79	1	0	0	0	0	1	0	0	0	16623	1020	36	3	860	3	TRMT61B	2	29092543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87863	29092543	214106830	2311	12628											
TRMT61B	55006	broad.mit.edu	37	chr2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtttctccctccccagtCtcagctaaaatcagttcccc	4	16	3	0	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	160					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(478-480)gaG>gaT		tRNA methyltransferase 61 homolog B (S. cerevisiae)		C	ASP/GLU	0,4406		0,0,2203	44	48	47		480	4.3	0.1	2	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRMT61B	NM_017910.3	45	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging	160/478	29092664	2,13004	2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092664C>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.480G>T	2.37:g.29092664C>A	ENSP00000302801:p.Glu160Asp						p.E160D	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	503	-			160					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.480G>T	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230419	0.58777	0.0	2.33E-4	ENSG00000171103	ENST00000306108	T	0.22134	1.97	5.24	4.35	0.52113	.	0.318671	0.27764	N	0.017947	T	0.16811	0.0404	N	0.10707	0.03	0.35303	D	0.783195	B;P	0.48589	0.002;0.912	B;P	0.49708	0.008;0.62	T	0.21109	-1.0255	10	0.37606	T	0.19	.	14.0724	0.64868	0.0:0.9259:0.0:0.0741	.	160;160	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	160	ENSP00000302801:E160D	ENSP00000302801:E160D	E	-	3	2	TRMT61B	28946168	0.335000	0.24748	0.063000	0.19743	0.290000	0.27261	1.435000	0.34969	2.459000	0.83118	0.462000	0.41574	GAG		0.498	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		53	246	1	0	1.91693e-13	1	2.0699e-13	53	246					A	29092664	C	A	29092664	3	1	79	1	0	0	0	0	1	0	0	0	16623	912	32	3	981	3	TRMT61B	2	29092664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	29092664	214106709	2312	12629											
TRMT61B	55006	broad.mit.edu	37	chr2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcaacacagtgaccgaGctccctcgaagggctcctgc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	35					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(103-105)gCt>gAt		tRNA methyltransferase 61 homolog B (S. cerevisiae)							51	54	53					2																	29093040		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29093040G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.104C>A	2.37:g.29093040G>T	ENSP00000302801:p.Ala35Asp						p.A35D	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	127	-			35					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.104C>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433373	0.62844	.	.	ENSG00000171103	ENST00000306108	T	0.55234	0.53	5.44	1.62	0.23740	.	0.418594	0.21374	N	0.075591	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.933	P;P	0.53649	0.731;0.542	T	0.34153	-0.9840	10	0.72032	D	0.01	-5.5275	5.127	0.14890	0.2511:0.1498:0.599:0.0	.	35;35	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	35	ENSP00000302801:A35D	ENSP00000302801:A35D	A	-	2	0	TRMT61B	28946544	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	1.109000	0.31135	0.090000	0.17273	0.561000	0.74099	GCT		0.622	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		66	179	1	0	3.63617e-18	1	4.02878e-18	66	179					T	29093040	G	T	29093040	3	4	79	1	0	0	0	0	1	0	0	0	16623	971	34	3	1357	3	TRMT61B	2	29093040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376	29093040	214106333	2313	12630											
WDR43	23160	broad.mit.edu	37	chr2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgttgctttcagctggtcGaacaatcaaactatgggttt	10	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	188						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378																																						ENST00000407426.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(562-564)cGa>cAa		WD repeat domain 43							118	112	114					2																	29135533		1849	4096	5945	SO:0001583	missense	23160					nucleolus		g.chr2:29135533G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.563G>A	2.37:g.29135533G>A	ENSP00000384302:p.Arg188Gln						p.R188Q	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			4	619	+	Acute lymphoblastic leukemia(172;0.155)		188					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.563G>A	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784285	0.90282	.	.	ENSG00000163811	ENST00000407426;ENST00000440983;ENST00000296126	T;T;T	0.70869	-0.01;-0.01;-0.52	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.256459	0.37348	N	0.002124	T	0.72914	0.3520	L	0.43923	1.385	0.43559	D	0.995872	D	0.60160	0.987	P	0.49597	0.616	T	0.71784	-0.4488	10	0.41790	T	0.15	-7.3855	20.0896	0.97814	0.0:0.0:1.0:0.0	.	188	Q15061	WDR43_HUMAN	Q	188;99;7	ENSP00000384302:R188Q;ENSP00000415355:R99Q;ENSP00000296126:R7Q	ENSP00000296126:R7Q	R	+	2	0	WDR43	28989037	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.796000	0.69080	2.741000	0.93983	0.650000	0.86243	CGA		0.378	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		93	263	0	0	0	1	0	93	263					A	29135533	G	A	29135533	3	1	79	1	0	0	0	0	1	0	0	0	17349	1058	37	1	577	1	WDR43	2	29135533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	29135533	214063840	2314	12631											
WDR43	23160	broad.mit.edu	37	chr2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaggaagacctccagaCgaatagctttccagttcttc	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353																																						ENST00000407426.3																			1	Substitution - Missense(1)	p.T502M(1)	breast(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1375-1377)aCg>aTg		WD repeat domain 43							111	109	110					2																	29152515		1834	4096	5930	SO:0001583	missense	23160					nucleolus		g.chr2:29152515C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1376C>T	2.37:g.29152515C>T	ENSP00000384302:p.Thr459Met						p.T459M	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			11	1432	+	Acute lymphoblastic leukemia(172;0.155)		459					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1376C>T	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525409	0.44969	.	.	ENSG00000163811	ENST00000407426	T	0.75704	-0.96	5.81	4.94	0.65067	.	0.146333	0.64402	N	0.000009	T	0.67353	0.2884	M	0.65975	2.015	0.50467	D	0.999879	P	0.37525	0.598	B	0.21917	0.037	T	0.71076	-0.4697	10	0.66056	D	0.02	-8.4749	12.1851	0.54234	0.0:0.8621:0.0:0.1378	.	459	Q15061	WDR43_HUMAN	M	459	ENSP00000384302:T459M	ENSP00000384302:T459M	T	+	2	0	WDR43	29006019	0.992000	0.36948	0.890000	0.34922	0.890000	0.51754	3.080000	0.50112	1.459000	0.47892	0.655000	0.94253	ACG		0.353	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		55	141	0	0	0	1	0	55	141					T	29152515	C	T	29152515	3	4	79	1	0	0	0	0	1	0	0	0	17349	536	19	1	1418	1	WDR43	2	29152515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	29152515	214046858	2315	12632											
FAM179A	165186	broad.mit.edu	37	chr2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatggtggagcagctacGggagctgacacggctgctgg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCAGCTACGGGAGCTGACA	0.662																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2302-2304)cGg>cAg		family with sequence similarity 179, member A							17	16	16					2																	29258407		2197	4294	6491	SO:0001583	missense	165186						binding	g.chr2:29258407G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2303G>A	2.37:g.29258407G>A	ENSP00000368876:p.Arg768Gln					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q	p.R768Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			17	2654	+			768					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2303G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138539	0.56936	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13901	2.55;2.55	4.74	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.23210	0.0561	L	0.60455	1.87	0.29437	N	0.859426	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.59115	0.69;0.75;0.852	T	0.02805	-1.1108	10	0.45353	T	0.12	.	6.4891	0.22105	0.2624:0.0:0.7376:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	Q	768;713	ENSP00000368876:R768Q;ENSP00000384699:R713Q	ENSP00000368876:R768Q	R	+	2	0	FAM179A	29111911	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.093000	0.50217	2.196000	0.70406	0.561000	0.74099	CGG		0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		12	35	0	0	0	1	0	12	35					A	29258407	G	A	29258407	3	1	79	1	0	0	0	0	1	0	0	0	5526	1116	39	1	2365	1	FAM179A	2	29258407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105892	29258407	213940966	2316	12633											
FAM179A	165186	broad.mit.edu	37	chr2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggcgctggagtccttcGccaagatgatccccctcctc	11	15	0	2	rs535137926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTCCTTCGCCAAGATGAT	0.498													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2491-2493)Gcc>Acc		family with sequence similarity 179, member A							125	105	111					2																	29259479		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29259479G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2491G>A	2.37:g.29259479G>A	ENSP00000368876:p.Ala831Thr					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T	p.A831T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2842	+			831					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2491G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	g	6.373	0.436969	0.12104	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.53;2.53	6.04	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.08044	0.0201	L	0.50333	1.59	0.09310	N	1	B;B;P	0.36249	0.179;0.034;0.545	B;B;B	0.22386	0.024;0.003;0.039	T	0.34403	-0.9830	10	0.13853	T	0.58	.	6.7617	0.23544	0.1701:0.0:0.6081:0.2218	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	T	831;776	ENSP00000368876:A831T;ENSP00000384699:A776T	ENSP00000368876:A831T	A	+	1	0	FAM179A	29112983	0.000000	0.05858	0.439000	0.26833	0.203000	0.24098	0.488000	0.22371	0.461000	0.27071	-0.217000	0.12591	GCC		0.498	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		89	231	0	0	0	1	0	89	231					A	29259479	G	A	29259479	3	1	79	1	0	0	0	0	1	0	0	0	5526	1087	38	1	2557	1	FAM179A	2	29259479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072	29259479	213939894	2317	12634											
C2orf71	388939	broad.mit.edu	37	chr2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcctcctgaggaaagGcagagggttgagggcacaca	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1188					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGAAAGGCAGAGGGTTG	0.632																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3562-3564)Cct>Act		chromosome 2 open reading frame 71							44	50	48					2																	29293566		2109	4217	6326	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293566G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3562C>A	2.37:g.29293566G>T	ENSP00000332809:p.Pro1188Thr						p.P1188T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	3561	-			1188						Missense_Mutation	SNP	ENST00000331664.5	37	c.3562C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631712	0.87660	.	.	ENSG00000179270	ENST00000331664	T	0.36340	1.26	5.52	5.52	0.82312	.	0.071002	0.56097	D	0.000028	T	0.61502	0.2352	M	0.65498	2.005	0.46609	D	0.999124	D	0.89917	1.0	D	0.91635	0.999	T	0.63598	-0.6601	10	0.87932	D	0	-12.6592	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1188	A6NGG8	CB071_HUMAN	T	1188	ENSP00000332809:P1188T	ENSP00000332809:P1188T	P	-	1	0	C2orf71	29147070	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.587000	0.82613	2.595000	0.87683	0.655000	0.94253	CCT		0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		58	306	1	0	2.48254e-18	1	2.75398e-18	58	306					T	29293566	G	T	29293566	3	4	79	1	0	0	0	0	1	0	0	0	2198	1203	42	3	312	3	C2orf71	2	29293566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34087	29293566	213905807	2318	12635											
CLIP4	79745	broad.mit.edu	37	chr2	29356571	29356571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttattgacctgggaGcagacattagtttgcggagt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29356571G>A	ENST00000320081.5	+	5	673	c.418G>A	c.(418-420)Gca>Aca	p.A140T	CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	140										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACCTGGGAGCAGACATTAG	0.358																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(418-420)Gca>Aca		CAP-GLY domain containing linker protein family, member 4							111	105	107					2																	29356571		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29356571G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.418G>A	2.37:g.29356571G>A	ENSP00000327009:p.Ala140Thr					CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T	p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			5	673	+	Acute lymphoblastic leukemia(172;0.155)		140					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.418G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454407	0.84209	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.70869	0.07;-0.52;0.07;0.07;0.07;0.07	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.051964	0.85682	D	0.000000	T	0.80549	0.4644	M	0.76328	2.33	0.80722	D	1	P;P	0.50528	0.936;0.84	P;P	0.51945	0.685;0.596	T	0.82924	-0.0216	10	0.87932	D	0	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	140;140	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	T	140;33;140;140;140;141;140;33;122	ENSP00000384242:A140T;ENSP00000385148:A33T;ENSP00000385594:A140T;ENSP00000327009:A140T;ENSP00000393354:A140T;ENSP00000392296:A33T	ENSP00000327009:A140T	A	+	1	0	CLIP4	29210075	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.799000	0.99117	2.604000	0.88044	0.650000	0.86243	GCA		0.358	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		9	268	0	0	0	1	0	9	268					A	29356571	G	A	29356571	3	1	79	1	0	0	0	0	1	0	0	0	3544	971	34	2	432	2	CLIP4	2	29356571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63005	29356571	213842802	2319	12636											
CLIP4	79745	broad.mit.edu	37	chr2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaaaggagattaacagaaGaaatgctttttccaagtgag	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1780-1782)aGa>aTa		CAP-GLY domain containing linker protein family, member 4							80	82	81					2																	29397296		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29397296G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1781G>T	2.37:g.29397296G>T	ENSP00000327009:p.Arg594Ile					CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I	p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			15	2036	+	Acute lymphoblastic leukemia(172;0.155)		594					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1781G>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524429	0.85600	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.095372	0.64402	D	0.000001	T	0.46698	0.1406	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.36335	-0.9752	10	0.38643	T	0.18	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	594	Q8N3C7	CLIP4_HUMAN	I	594;487;594;596;594;612;554	ENSP00000384242:R594I;ENSP00000385148:R487I;ENSP00000385594:R594I;ENSP00000327009:R594I	ENSP00000327009:R594I	R	+	2	0	CLIP4	29250800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.806000	0.55583	2.885000	0.99019	0.655000	0.94253	AGA		0.348	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		35	255	1	0	3.86903e-22	1	4.37239e-22	35	255					T	29397296	G	T	29397296	3	4	79	1	0	0	0	0	1	0	0	0	3544	942	33	3	1835	3	CLIP4	2	29397296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40725	29397296	213802077	2320	12637											
ALK	238	broad.mit.edu	37	chr2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcggacagccttccctctCtgcccacttccgacgccttc	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	200					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCTTCCCTCTCTGCCCACTTC	0.622			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(598-600)aGa>aAa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						39	47	44					2																	30142927		2203	4298	6501	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30142927C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.599G>A	2.37:g.30142927C>T	ENSP00000373700:p.Arg200Lys					ALK_ENST00000431873.1_Missense_Mutation_p.R200K	p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1505	-	Acute lymphoblastic leukemia(172;0.155)		200					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.599G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805230	0.70682	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79454	-1.27;2.77	5.33	5.33	0.75918	.	.	.	.	.	T	0.67571	0.2907	N	0.24115	0.695	0.28441	N	0.916784	B	0.19583	0.037	B	0.14023	0.01	T	0.53865	-0.8378	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	200	Q9UM73	ALK_HUMAN	K	200	ENSP00000373700:R200K;ENSP00000414027:R200K	.	R	-	2	0	ALK	29996431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.041000	0.49807	2.652000	0.90054	0.655000	0.94253	AGA		0.622	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		90	218	0	0	0	1	0	90	218					T	30142927	C	T	30142927	3	4	79	1	0	0	0	0	1	0	0	0	525	913	32	2	4379	2	ALK	2	30142927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745631	30142927	213056446	2321	12638											
LBH	81606	broad.mit.edu	37	chr2	30480460	30480460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcaagataactgcgaagaGacagcgaaagaaaataaaga	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	ENST00000395323.3	+	3	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D	LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	97					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ACTGCGAAGAGACAGCGAAAG	0.547																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(289-291)gaG>gaT		limb bud and heart development							47	49	48					2																	30480460		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480460G>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.291G>T	2.37:g.30480460G>T	ENSP00000378733:p.Glu97Asp					LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR	p.E97D	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	499	+	Acute lymphoblastic leukemia(172;0.155)		97					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.291G>T	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233031	0.39498	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	-1.56	0.08532	.	0.611981	0.18007	N	0.154682	T	0.20740	0.0499	N	0.19112	0.55	0.28153	N	0.929308	B	0.02656	0.0	B	0.04013	0.001	T	0.06935	-1.0799	9	0.42905	T	0.14	-9.1529	3.5822	0.07958	0.2088:0.4269:0.2568:0.1075	.	97	Q53QV2	LBH_HUMAN	D	97;103;80	.	ENSP00000378733:E97D	E	+	3	2	LBH	30333964	0.726000	0.28059	0.909000	0.35828	0.947000	0.59692	-0.144000	0.10280	-0.194000	0.10399	0.549000	0.68633	GAG		0.547	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		36	217	1	0	2.09667e-21	1	2.36065e-21	36	217					T	30480460	G	T	30480460	3	4	79	1	0	0	0	0	1	0	0	0	8681	933	33	3	301	3	LBH	2	30480460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337533	30480460	212718913	2322	12639											
LCLAT1	253558	broad.mit.edu	37	chr2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattatcatgaaccatcGgacaagaatggactggatgt	10	7	2	2	rs559540287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	124					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(370-372)cGg>cAg		lysocardiolipin acyltransferase 1							210	200	203					2																	30756073		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.chr2:30756073G>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.371G>A	2.37:g.30756073G>A	ENSP00000310551:p.Arg124Gln					LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR	p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			4	580	+			124					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.371G>A	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938400	0.73557	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.41	3.61	0.41365	Phospholipid/glycerol acyltransferase (2);	0.101779	0.64402	D	0.000001	D	0.92397	0.7587	L	0.38649	1.16	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.91635	0.965;0.999	D	0.88787	0.3275	10	0.19590	T	0.45	-12.3911	11.7451	0.51815	0.1428:0.0:0.8572:0.0	.	124;124	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	Q	86;86;86;86;124;86;86;124;124;86;86;124;86	ENSP00000419966:R86Q;ENSP00000420481:R86Q;ENSP00000368823:R86Q;ENSP00000368826:R124Q;ENSP00000417951:R86Q;ENSP00000417565:R86Q;ENSP00000310551:R124Q;ENSP00000352406:R124Q;ENSP00000442857:R86Q;ENSP00000419646:R86Q;ENSP00000417875:R124Q;ENSP00000419444:R86Q	ENSP00000310551:R124Q	R	+	2	0	LCLAT1	30609577	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	9.554000	0.98121	0.771000	0.33359	0.650000	0.86243	CGG		0.413	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		192	840	0	0	0	1	0	192	840					A	30756073	G	A	30756073	3	1	79	1	0	0	0	0	1	0	0	0	8708	1116	39	1	381	1	LCLAT1	2	30756073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275613	30756073	212443300	2323	12640											
CAPN13	92291	broad.mit.edu	37	chr2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgctgcagggaatgTctcatccttaaacgtccggc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	39	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCAGGGAATGTCTCATCCTTA	0.542																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(115-117)Aca>Cca		calpain 13							47	49	48					2																	31010077		1982	4163	6145	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:31010077T>G		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.115A>C	2.37:g.31010077T>G	ENSP00000295055:p.Thr39Pro					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P	p.T39P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			2	291	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		39			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.115A>C	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203808	0.38905	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87650	-2.28;-2.28	5.91	3.46	0.39613	Peptidase C2, calpain, catalytic domain (3);	0.296884	0.36815	N	0.002391	D	0.90549	0.7038	M	0.81239	2.535	0.33205	D	0.552634	D	0.69078	0.997	D	0.67548	0.952	D	0.89689	0.3896	10	0.33940	T	0.23	.	4.8091	0.13335	0.1652:0.0869:0.0:0.7479	.	39	Q6MZZ7	CAN13_HUMAN	P	39	ENSP00000295055:T39P;ENSP00000431298:T39P	ENSP00000295055:T39P	T	-	1	0	CAPN13	30863581	0.609000	0.26975	0.990000	0.47175	0.135000	0.20990	1.198000	0.32223	2.266000	0.75297	0.533000	0.62120	ACA		0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		16	57	0	0	0	1	0	16	57					G	31010077	T	G	31010077	3	3	79	1	0	0	0	0	1	0	0	0	2633	1667	58	4	1978	4	CAPN13	2	31010077	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	254004	31010077	212189296	2324	12641											
EHD3	30845	broad.mit.edu	37	chr2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttggaagagcattaccGcttccacgagttccactcgc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	41					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.R41L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCATTACCGCTTCCACGAG	0.597																																						ENST00000322054.5																			1	Substitution - Missense(1)	p.R41L(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(121-123)cGc>cAc		EH-domain containing 3							108	102	104					2																	31457609		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31457609G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.122G>A	2.37:g.31457609G>A	ENSP00000327116:p.Arg41His					EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			1	407	+	Acute lymphoblastic leukemia(172;0.155)		41					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.122G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563703	0.65651	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.32753	1.44;2.18	5.0	5.0	0.66597	.	0.047335	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71036	2.16	0.42300	D	0.992178	B;B	0.11235	0.004;0.002	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.66056	D	0.02	-24.0634	5.9496	0.19237	0.2233:0.0:0.7767:0.0	.	41;41	B4DFR5;Q9NZN3	.;EHD3_HUMAN	H	41	ENSP00000440685:R41H;ENSP00000327116:R41H	ENSP00000327116:R41H	R	+	2	0	EHD3	31311113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.609000	0.67661	2.600000	0.87896	0.561000	0.74099	CGC		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		149	426	0	0	0	1	0	149	426					A	31457609	G	A	31457609	3	1	79	1	0	0	0	0	1	0	0	0	4995	1087	38	1	124	1	EHD3	2	31457609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	447532	31457609	211741764	2325	12642											
EHD3	30845	broad.mit.edu	37	chr2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaacgcctttggcaacGccttcttgaacaggtgagtg	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	131	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(391-393)Gcc>Acc		EH-domain containing 3							115	91	99					2																	31467303		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467303G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.391G>A	2.37:g.31467303G>A	ENSP00000327116:p.Ala131Thr					EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			2	676	+	Acute lymphoblastic leukemia(172;0.155)		131					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.391G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989006	0.74589	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.95588	-3.75;-3.75	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	L	0.44542	1.39	0.80722	D	1	B;B	0.29835	0.207;0.258	B;B	0.32393	0.074;0.145	D	0.91218	0.5004	10	0.38643	T	0.18	-18.8688	19.8471	0.96713	0.0:0.0:1.0:0.0	.	131;131	B4DFR5;Q9NZN3	.;EHD3_HUMAN	T	131	ENSP00000440685:A131T;ENSP00000327116:A131T	ENSP00000327116:A131T	A	+	1	0	EHD3	31320807	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GCC		0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		72	186	0	0	0	1	0	72	186					A	31467303	G	A	31467303	3	1	79	1	0	0	0	0	1	0	0	0	4995	1087	38	1	397	1	EHD3	2	31467303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	31467303	211732070	2326	12643											
EHD3	30845	broad.mit.edu	37	chr2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtcatcaaagccctcAagaaccacgaggacaagatg	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	208	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(622-624)Aag>Cag		EH-domain containing 3							85	78	80					2																	31483495		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483495A>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.622A>C	2.37:g.31483495A>C	ENSP00000327116:p.Lys208Gln					EHD3_ENST00000541626.1_Intron	p.K208Q	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			4	907	+	Acute lymphoblastic leukemia(172;0.155)		208					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.622A>C	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988500	0.74589	.	.	ENSG00000013016	ENST00000322054	D	0.97016	-4.21	5.15	3.98	0.46160	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.62209	1.925	0.80722	D	1	P	0.48764	0.915	P	0.55161	0.77	D	0.95728	0.8772	10	0.59425	D	0.04	-38.4058	11.4487	0.50138	0.865:0.0:0.0:0.135	.	208	Q9NZN3	EHD3_HUMAN	Q	208	ENSP00000327116:K208Q	ENSP00000327116:K208Q	K	+	1	0	EHD3	31336999	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.179000	0.77665	0.957000	0.37930	0.459000	0.35465	AAG		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		74	202	0	0	0	1	0	74	202					C	31483495	A	C	31483495	3	2	79	1	0	0	0	0	1	0	0	0	4995	131	5	4	636	4	EHD3	2	31483495	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	31483495	211715878	2327	12644											
EHD3	30845	broad.mit.edu	37	chr2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccggaagctctttgAggctgaggaacaggacctat	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	272	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(814-816)gAg>gCg		EH-domain containing 3							81	84	83					2																	31483688		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483688A>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.815A>C	2.37:g.31483688A>C	ENSP00000327116:p.Glu272Ala					EHD3_ENST00000541626.1_Intron	p.E272A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			4	1100	+	Acute lymphoblastic leukemia(172;0.155)		272					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.815A>C	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728124	0.69074	.	.	ENSG00000013016	ENST00000322054	D	0.95885	-3.84	4.97	4.97	0.65823	.	0.094049	0.64402	D	0.000001	D	0.97145	0.9067	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	D	0.97595	1.0119	10	0.62326	D	0.03	-46.8045	14.8417	0.70230	1.0:0.0:0.0:0.0	.	272	Q9NZN3	EHD3_HUMAN	A	272	ENSP00000327116:E272A	ENSP00000327116:E272A	E	+	2	0	EHD3	31337192	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.090000	0.63153	0.459000	0.35465	GAG		0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		44	567	0	0	0	1	0	44	567					C	31483688	A	C	31483688	3	2	79	1	0	0	0	0	1	0	0	0	4995	304	11	4	829	4	EHD3	2	31483688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	31483688	211715685	2328	12645											
EHD3	30845	broad.mit.edu	37	chr2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggtcaacaacctgGccgagatctatggccggatc	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	336					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1006-1008)Gcc>Acc		EH-domain containing 3							140	131	134					2																	31484505		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484505G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1006G>A	2.37:g.31484505G>A	ENSP00000327116:p.Ala336Thr					EHD3_ENST00000541626.1_Intron	p.A336T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1291	+	Acute lymphoblastic leukemia(172;0.155)		336					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1006G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784436	0.31593	.	.	ENSG00000013016	ENST00000322054	T	0.17213	2.29	6.04	6.04	0.98038	.	0.090843	0.85682	D	0.000000	T	0.09423	0.0232	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.22109	T	0.4	-6.2235	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	336	Q9NZN3	EHD3_HUMAN	T	336	ENSP00000327116:A336T	ENSP00000327116:A336T	A	+	1	0	EHD3	31338009	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	6.685000	0.74543	2.873000	0.98535	0.561000	0.74099	GCC		0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		149	478	0	0	0	1	0	149	478					A	31484505	G	A	31484505	3	1	79	1	0	0	0	0	1	0	0	0	4995	1203	42	2	1024	2	EHD3	2	31484505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	817	31484505	211714868	2329	12646											
EHD3	30845	broad.mit.edu	37	chr2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggctatggggagggggCtggagaaggtatcgatgatg	20	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	430					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGAGGGGGCTGGAGAAGGT	0.622																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1288-1290)gCt>gTt		EH-domain containing 3							75	68	71					2																	31489251		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489251C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1289C>T	2.37:g.31489251C>T	ENSP00000327116:p.Ala430Val					EHD3_ENST00000541626.1_3'UTR	p.A430V	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			6	1574	+	Acute lymphoblastic leukemia(172;0.155)		430					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1289C>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140960	0.56936	.	.	ENSG00000013016	ENST00000322054	T	0.17691	2.26	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.15952	T	0.53	-19.4475	20.1432	0.98067	0.0:1.0:0.0:0.0	.	430	Q9NZN3	EHD3_HUMAN	V	430	ENSP00000327116:A430V	ENSP00000327116:A430V	A	+	2	0	EHD3	31342755	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	5.940000	0.70187	2.769000	0.95229	0.561000	0.74099	GCT		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		19	185	0	0	0	1	0	19	185					T	31489251	C	T	31489251	3	4	79	1	0	0	0	0	1	0	0	0	4995	797	28	2	1311	2	EHD3	2	31489251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4746	31489251	211710122	2330	12647											
XDH	7498	broad.mit.edu	37	chr2	31560588	31560588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggaagagttccttcacGttattacctgtgtgctgagc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1290					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)			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)	GTTCCTTCACGTTATTACCTG	0.562																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(3868-3870)aaC>aaT		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)						110	96	101					2																	31560588		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:31560588G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3870C>T	2.37:g.31560588G>A							p.N1290N	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			35	3918	-	Acute lymphoblastic leukemia(172;0.155)		1290					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3870C>T	CCDS1775.1																																																																																				0.562	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		108	351	0	0	0	1	0	108	351					A	31560588	G	A	31560588	2	1	79	1	0	0	0	0	0	0	0	1	17480	1136	40	1		1	XDH	2	31560588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71337	31560588	211638785	2331	12648											
XDH	7498	broad.mit.edu	37	chr2	31570487	31570487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgatataaatcttagaGgtggggattttcagagctct	11	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1059					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)			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)	AAATCTTAGAGGTGGGGATTT	0.542																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(3175-3177)acC>acT		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)						107	110	109					2																	31570487		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:31570487G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3177C>T	2.37:g.31570487G>A							p.T1059T	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			29	3225	-	Acute lymphoblastic leukemia(172;0.155)		1059					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3177C>T	CCDS1775.1																																																																																				0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		124	377	0	0	0	1	0	124	377					A	31570487	G	A	31570487	2	1	79	1	0	0	0	0	0	0	0	1	17480	987	35	2		2	XDH	2	31570487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9899	31570487	211628886	2332	12649											
XDH	7498	broad.mit.edu	37	chr2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgattcagaaaaggaaCtgtaaagcttattccaaact	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1012					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)			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)	AGAAAAGGAACTGTAAAGCTT	0.388																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(3034-3036)Gtt>Att		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)						102	102	102					2																	31571782		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.chr2:31571782C>T	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.3034G>A	2.37:g.31571782C>T	ENSP00000368727:p.Val1012Ile						p.V1012I	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			27	3082	-	Acute lymphoblastic leukemia(172;0.155)		1012					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3034G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845221	0.16963	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	-11.0	0.00169	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.594745	0.19170	N	0.120946	T	0.25865	0.0630	L	0.47016	1.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11494	-1.0585	10	0.16896	T	0.51	.	14.4795	0.67570	0.0:0.2955:0.5407:0.1638	.	1012	P47989	XDH_HUMAN	I	1012	ENSP00000368727:V1012I	ENSP00000368727:V1012I	V	-	1	0	XDH	31425286	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-4.438000	0.00234	-2.268000	0.00685	-3.099000	0.00064	GTT		0.388	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		53	161	0	0	0	1	0	53	161					T	31571782	C	T	31571782	3	4	79	1	0	0	0	0	1	0	0	0	17480	565	20	2	1007	2	XDH	2	31571782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1295	31571782	211627591	2333	12650											
XDH	7498	broad.mit.edu	37	chr2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccatgtggaataaagctCgttccataatctgaagcaga	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					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.R881Q(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)	GAATAAAGCTCGTTCCATAAT	0.498																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			1	Substitution - Missense(1)	p.R881Q(1)	large_intestine(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						c.(2641-2643)cGa>cAa		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)						68	73	71					2																	31573079		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.chr2:31573079C>T	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.2642G>A	2.37:g.31573079C>T	ENSP00000368727:p.Arg881Gln						p.R881Q	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			25	2690	-	Acute lymphoblastic leukemia(172;0.155)		881					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2642G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	XDH	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA		0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		97	441	0	0	0	1	0	97	441					T	31573079	C	T	31573079	3	4	79	1	0	0	0	0	1	0	0	0	17480	884	31	1	1407	1	XDH	2	31573079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1297	31573079	211626294	2334	12651											
XDH	7498	broad.mit.edu	37	chr2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgcatcgcacagggCggccggtcctgggggttacc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	822					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)			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)	TCGCACAGGGCGGCCGGTCCT	0.557																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(2464-2466)cGc>cAc		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)						104	93	96					2																	31588402		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.chr2:31588402C>T	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.2465G>A	2.37:g.31588402C>T	ENSP00000368727:p.Arg822His						p.R822H	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			23	2513	-	Acute lymphoblastic leukemia(172;0.155)		822					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2465G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910494	0.33721	.	.	ENSG00000158125	ENST00000379416	T	0.57436	0.4	6.17	5.25	0.73442	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.206565	0.50627	N	0.000113	T	0.60143	0.2246	M	0.86343	2.81	0.58432	D	0.999997	B	0.22800	0.075	B	0.23852	0.049	T	0.60193	-0.7311	10	0.39692	T	0.17	.	14.7869	0.69810	0.0:0.9275:0.0:0.0725	.	822	P47989	XDH_HUMAN	H	822	ENSP00000368727:R822H	ENSP00000368727:R822H	R	-	2	0	XDH	31441906	0.103000	0.21917	0.817000	0.32601	0.180000	0.23129	1.648000	0.37271	1.515000	0.48885	0.655000	0.94253	CGC		0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		106	479	0	0	0	1	0	106	479					T	31588402	C	T	31588402	3	4	79	1	0	0	0	0	1	0	0	0	17480	768	27	1	1592	1	XDH	2	31588402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15323	31588402	211610971	2335	12652											
XDH	7498	broad.mit.edu	37	chr2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggaaccttcttagcTtctgatgtatctatggacct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	625					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)			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)	CCTTCTTAGCTTCTGATGTAT	0.478																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(1873-1875)gaA>gaC		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)						93	80	84					2																	31593326		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.chr2:31593326T>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.1875A>C	2.37:g.31593326T>G	ENSP00000368727:p.Glu625Asp						p.E625D	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			18	1923	-	Acute lymphoblastic leukemia(172;0.155)		625					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1875A>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102553	0.37145	.	.	ENSG00000158125	ENST00000379416	T	0.13089	2.62	6.17	2.51	0.30379	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.430804	0.29253	N	0.012683	T	0.21022	0.0506	M	0.66939	2.045	0.44985	D	0.998004	B	0.24317	0.101	B	0.39152	0.292	T	0.02877	-1.1099	10	0.54805	T	0.06	.	9.2083	0.37302	0.0:0.2166:0.0:0.7834	.	625	P47989	XDH_HUMAN	D	625	ENSP00000368727:E625D	ENSP00000368727:E625D	E	-	3	2	XDH	31446830	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	0.639000	0.24690	0.197000	0.20387	0.533000	0.62120	GAA		0.478	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		37	143	0	0	0	1	0	37	143					G	31593326	T	G	31593326	3	3	79	1	0	0	0	0	1	0	0	0	17480	1606	56	4	2202	4	XDH	2	31593326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4924	31593326	211606047	2336	12653											
XDH	7498	broad.mit.edu	37	chr2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagttgtcactgcaAcatggtgcaaggagcagatg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	83	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				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)			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)	TGTCACTGCAACATGGTGCAA	0.507																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(247-249)gTt>gCt		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)						109	81	90					2																	31624144		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.chr2:31624144A>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.248T>C	2.37:g.31624144A>G	ENSP00000368727:p.Val83Ala						p.V83A	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			4	296	-	Acute lymphoblastic leukemia(172;0.155)		83			2Fe-2S ferredoxin-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.248T>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.256555	0.00265	.	.	ENSG00000158125	ENST00000379416	T	0.21031	2.03	6.07	2.41	0.29592	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.716909	0.14120	N	0.340128	T	0.03263	0.0095	N	0.00094	-2.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40459	-0.9562	10	0.02654	T	1	.	8.6268	0.33895	0.7144:0.0:0.2856:0.0	.	83	P47989	XDH_HUMAN	A	83	ENSP00000368727:V83A	ENSP00000368727:V83A	V	-	2	0	XDH	31477648	0.096000	0.21769	0.003000	0.11579	0.002000	0.02628	2.968000	0.49224	0.179000	0.19938	-0.256000	0.11100	GTT		0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		16	264	0	0	0	1	0	16	264					G	31624144	A	G	31624144	3	3	79	1	0	0	0	0	1	0	0	0	17480	43	2	4	3885	4	XDH	2	31624144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30818	31624144	211575229	2337	12654											
SRD5A2	6716	broad.mit.edu	37	chr2	31805971	31805971	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcactgaacctgcatcGcgccgtgttcctcgccggtg	13	15	0	1	rs61748132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31805971G>A	ENST00000405650.1	-	0	165							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCTGCATCGCGCCGTGTTC	0.701																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						17	20	19					2																	31805971		1998	4145	6143			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31805971G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805971G>A										P31213	S5A2_HUMAN			0	165	-	Acute lymphoblastic leukemia(172;0.155)							B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	37																																																																																						0.701	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		51	150	0	0	0	1	0	51	150					A	31805971	G	A	31805971	1	1	79	0	1	0	0	0	0	0	0	0	15191	1102	38	1		1	SRD5A2	2	31805971	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181827	31805971	211393402	2338	12655											
NLRC4	58484	broad.mit.edu	37	chr2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgaaagaaagcttcaaattCttggctcagggctgatttgg	11	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	574					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCAAATTCTTGGCTCAGG	0.378																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1720-1722)Gaa>Taa		NLR family, CARD domain containing 4							101	98	99					2																	32475213		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475213C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1720G>T	2.37:g.32475213C>A	ENSP00000385090:p.Glu574*					NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron	p.E574*			Q9NPP4	NLRC4_HUMAN			5	2208	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		574					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.1720G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081780	0.76528	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.0	2.11	0.27256	.	0.396359	0.19831	N	0.105084	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6055	0.39630	0.0:0.8875:0.0:0.1125	.	.	.	.	X	574	.	ENSP00000354159:E574X	E	-	1	0	NLRC4	32328717	1.000000	0.71417	0.575000	0.28536	0.001000	0.01503	4.069000	0.57541	0.853000	0.35312	-0.300000	0.09419	GAA		0.378	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		69	417	1	0	2.02627e-32	1	2.39265e-32	69	417					A	32475213	C	A	32475213	4	1	79	1	0	0	0	0	0	1	0	0	10511	922	32	3	1378	3	NLRC4	2	32475213	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	669242	32475213	210724160	2339	12656											
NLRC4	58484	broad.mit.edu	37	chr2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttatcagggcttcgatttCtgggcagttctggggcttga	13	8	3	1	rs557723374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	260	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGATTTCTGGGCAGTTC	0.507																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(778-780)Gaa>Taa		NLR family, CARD domain containing 4							113	105	108					2																	32476155		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476155C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.778G>T	2.37:g.32476155C>A	ENSP00000385090:p.Glu260*					NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron	p.E260*			Q9NPP4	NLRC4_HUMAN			5	1266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		260			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.778G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210687	0.97380	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4282	13.7957	0.63168	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000354159:E260X	E	-	1	0	NLRC4	32329659	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	2.663000	0.46774	1.836000	0.53414	0.543000	0.68304	GAA		0.507	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		50	626	1	0	7.77372e-23	1	8.81276e-23	50	626					A	32476155	C	A	32476155	4	1	79	1	0	0	0	0	0	1	0	0	10511	922	32	3	2320	3	NLRC4	2	32476155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942	32476155	210723218	2340	12657											
NLRC4	58484	broad.mit.edu	37	chr2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatcgtccaagtctccttCtgatgtctgatgaaaaagac	7	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTCTCCTTCTGATGTCTGA	0.408																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(283-285)Gaa>Aaa		NLR family, CARD domain containing 4							53	56	55					2																	32476650		2195	4296	6491	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476650C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.283G>A	2.37:g.32476650C>T	ENSP00000385090:p.Glu95Lys					NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron	p.E95K			Q9NPP4	NLRC4_HUMAN			5	771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		95					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.283G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564640	0.45694	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	3.46	2.56	0.30785	.	0.119241	0.33572	N	0.004778	T	0.35624	0.0938	L	0.29908	0.895	0.32029	N	0.599757	P	0.40000	0.698	B	0.32724	0.151	T	0.53337	-0.8453	9	0.66056	D	0.02	-5.2439	11.191	0.48685	0.1858:0.8142:0.0:0.0	.	95	Q9NPP4	NLRC4_HUMAN	K	95	ENSP00000354159:E95K;ENSP00000385428:E95K;ENSP00000385090:E95K	ENSP00000354159:E95K	E	-	1	0	NLRC4	32330154	0.070000	0.21116	0.080000	0.20451	0.123000	0.20343	0.143000	0.16115	0.772000	0.33382	0.543000	0.68304	GAA		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		20	487	0	0	0	1	0	20	487					T	32476650	C	T	32476650	3	4	79	1	0	0	0	0	1	0	0	0	10511	922	32	2	2815	2	NLRC4	2	32476650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	32476650	210722723	2341	12658											
BIRC6	57448	broad.mit.edu	37	chr2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgatttggagatgagtgGctcttcttgtaaaaatgttt	10	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1514					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)			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)					GAGATGAGTGGCTCTTCTTGT	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(4540-4542)gGc>gTc		baculoviral IAP repeat containing 6							128	130	129					2																	32673919		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673919G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4541G>T	2.37:g.32673919G>T	ENSP00000393596:p.Gly1514Val						p.G1514V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			22	4675	+	Acute lymphoblastic leukemia(172;0.155)		1514					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4541G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359955	0.61403	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.61	5.61	0.85477	.	0.132026	0.50627	D	0.000106	T	0.78181	0.4243	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70510	-0.4852	10	0.02654	T	1	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1514	Q9NR09	BIRC6_HUMAN	V	1514	ENSP00000393596:G1514V	ENSP00000393596:G1514V	G	+	2	0	BIRC6	32527423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GGC		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		18	332	1	0	1.2644e-06	1	1.30616e-06	18	332					T	32673919	G	T	32673919	3	4	79	1	0	0	0	0	1	0	0	0	1440	1203	42	3	4627	3	BIRC6	2	32673919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197269	32673919	210525454	2342	12659											
BIRC6	57448	broad.mit.edu	37	chr2	32673997	32673997	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagatgtcctttcagGtagtgatttcttttattaaa	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)			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)					GTCCTTTCAGGTAGTGATTTC	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.e22+1		baculoviral IAP repeat containing 6							95	99	98					2																	32673997		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673997G>A	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.4618+1G>A	2.37:g.32673997G>A								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			22	4752	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145565	0.77888	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527501	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.754000	0.98908	2.574000	0.86865	0.585000	0.79938	.		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	67	188	0	0	0	1	0	67	188					A	32673997	G	A	32673997	5	1	79	1	0	0	0	0	0	0	1	0	1440	1275	44	2	4705	2	BIRC6	2	32673997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	32673997	210525376	2343	12660											
BIRC6	57448	broad.mit.edu	37	chr2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttaaggatttaattcGtttacgtcggacagcagaat	9	7	0	1	rs551174027	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2291					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)			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)					GATTTAATTCGTTTACGTCGG	0.328													G|||	2	0.000399361	0.0	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.002				Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(6871-6873)cGt>cAt		baculoviral IAP repeat containing 6							120	117	118					2																	32702455		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32702455G>A	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.6872G>A	2.37:g.32702455G>A	ENSP00000393596:p.Arg2291His						p.R2291H	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			35	7006	+	Acute lymphoblastic leukemia(172;0.155)		2291					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6872G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.261329	0.95368	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.71	5.71	0.89125	.	0.139716	0.48767	D	0.000174	D	0.83533	0.5275	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.83807	0.0239	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	2291	Q9NR09	BIRC6_HUMAN	H	2291	ENSP00000393596:R2291H	ENSP00000393596:R2291H	R	+	2	0	BIRC6	32555959	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.727000	0.98787	2.694000	0.91930	0.585000	0.79938	CGT		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		116	346	0	0	0	1	0	116	346					A	32702455	G	A	32702455	3	1	79	1	0	0	0	0	1	0	0	0	1440	1145	40	1	7010	1	BIRC6	2	32702455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28458	32702455	210496918	2344	12661											
BIRC6	57448	broad.mit.edu	37	chr2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgcacaacagaccagtGcaagatcagcttctctttct	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3738					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)			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)					ACAGACCAGTGCAAGATCAGC	0.448																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(11212-11214)Gca>Aca		baculoviral IAP repeat containing 6							101	94	96					2																	32740700		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740700G>A	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.11212G>A	2.37:g.32740700G>A	ENSP00000393596:p.Ala3738Thr						p.A3738T	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			55	11346	+	Acute lymphoblastic leukemia(172;0.155)		3738					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11212G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777582	0.00640	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.5	-1.67	0.08238	.	0.665993	0.14546	N	0.312976	T	0.58708	0.2141	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.24483	T	0.36	.	6.0668	0.19868	0.4489:0.0:0.4343:0.1168	.	3738	Q9NR09	BIRC6_HUMAN	T	3738	ENSP00000393596:A3738T	ENSP00000393596:A3738T	A	+	1	0	BIRC6	32594204	0.999000	0.42202	0.016000	0.15963	0.164000	0.22412	0.596000	0.24044	-0.365000	0.08076	-0.224000	0.12420	GCA		0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		55	350	0	0	0	1	0	55	350					A	32740700	G	A	32740700	3	1	79	1	0	0	0	0	1	0	0	0	1440	1319	46	2	11430	2	BIRC6	2	32740700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38245	32740700	210458673	2345	12662											
TTC27	55622	broad.mit.edu	37	chr2	33036232	33036232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggagaaatctggaggCtgtatgcccacgtatatgga	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCTGGAGGCTGTATGCCCA	0.453																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2140-2142)Ctg>Ttg		tetratricopeptide repeat domain 27							113	112	113					2																	33036232		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33036232C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2140C>T	2.37:g.33036232C>T							p.L714L	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			17	2371	+			714					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.2140C>T	CCDS33176.1																																																																																				0.453	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		50	228	0	0	0	1	0	50	228					T	33036232	C	T	33036232	2	4	79	1	0	0	0	0	0	0	0	1	16749	796	28	2		2	TTC27	2	33036232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295532	33036232	210163141	2346	12663											
RASGRP3	25780	broad.mit.edu	37	chr2	33783327	33783327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctcctggttctggcCtgcaggagatttgcccgggc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000402538.3_Silent_p.A543A|RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	543					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)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1627-1629)gcC>gcA		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							60	62	61					2																	33783327		1907	4118	6025	SO:0001819	synonymous_variant	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.chr2:33783327C>A	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.1629C>A	2.37:g.33783327C>A						RASGRP3_ENST00000402538.3_Silent_p.A543A|RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA	p.A543A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			16	2369	+	all_hematologic(175;0.115)		543					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.1629C>A	CCDS46256.1																																																																																				0.542	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		23	89	1	0	3.62473e-10	1	3.83521e-10	23	89					A	33783327	C	A	33783327	2	1	79	1	0	0	0	0	0	0	0	1	13126	668	24	3		3	RASGRP3	2	33783327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	747095	33783327	209416046	2347	12664											
RASGRP3	25780	broad.mit.edu	37	chr2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttacaggctcttctcGcaagatctctgtgaggctac	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	599					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)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGCTCTTCTCGCAAGATCTCT	0.592																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1795-1797)cGc>cAc		RAS guanyl releasing protein 3 (calcium and DAG-regulated)																																				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.chr2:33783829G>A	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.1796G>A	2.37:g.33783829G>A	ENSP00000384192:p.Arg599His					RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA	p.R599H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			17	2536	+	all_hematologic(175;0.115)		599					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1796G>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922374	0.52653	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.45	4.57	0.56435	.	0.268189	0.36703	N	0.002459	T	0.60547	0.2277	L	0.27053	0.805	0.32515	N	0.537021	P;P	0.43633	0.813;0.813	B;B	0.32864	0.154;0.154	T	0.69003	-0.5260	10	0.39692	T	0.17	-5.3184	10.9647	0.47406	0.1982:0.0:0.8018:0.0	.	598;599	D6W583;Q8IV61	.;GRP3_HUMAN	H	599;599;598	ENSP00000385886:R599H;ENSP00000384192:R599H;ENSP00000383917:R598H	ENSP00000385886:R599H	R	+	2	0	RASGRP3	33637333	0.988000	0.35896	0.998000	0.56505	0.997000	0.91878	3.486000	0.53215	1.278000	0.44430	0.650000	0.86243	CGC		0.592	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		15	324	0	0	0	1	0	15	324					A	33783829	G	A	33783829	3	1	79	1	0	0	0	0	1	0	0	0	13126	1087	38	1	1854	1	RASGRP3	2	33783829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502	33783829	209415544	2348	12665											
CRIM1	51232	broad.mit.edu	37	chr2	36691752	36691752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatagtctctcgtggCgatgggacacctggaaagtg	13	12	1	0	rs372559618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2																			1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307	280	289		945	3.6	1	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691752C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T							p.G315G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	315					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.945C>T	CCDS1783.1																																																																																				0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		152	810	0	0	0	1	0	152	810					T	36691752	C	T	36691752	2	4	79	1	0	0	0	0	0	0	0	1	3882	755	27	1		1	CRIM1	2	36691752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2907923	36691752	206507621	2349	12666											
CRIM1	51232	broad.mit.edu	37	chr2	36704168	36704168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtggtgagataaactgCgagaggtactacgtgcccga	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	376	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGATAAACTGCGAGAGGTACT	0.488																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1126-1128)tgC>tgT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							112	98	103					2																	36704168		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704168C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1128C>T	2.37:g.36704168C>T							p.C376C	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			6	1495	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	376			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1128C>T	CCDS1783.1																																																																																				0.488	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		128	347	0	0	0	1	0	128	347					T	36704168	C	T	36704168	2	4	79	1	0	0	0	0	0	0	0	1	3882	776	27	1		1	CRIM1	2	36704168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12416	36704168	206495205	2350	12667											
CRIM1	51232	broad.mit.edu	37	chr2	36771593	36771593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggttgacctggaggttCccctgtggcccacgcctagt	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36771593C>T	ENST00000280527.2	+	15	3065	c.2698C>T	c.(2698-2700)Ccc>Tcc	p.P900S	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	900					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCTGGAGGTTCCCCTGTGGCC	0.448																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2698-2700)Ccc>Tcc		cysteine rich transmembrane BMP regulator 1 (chordin-like)							132	125	127					2																	36771593		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36771593C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2698C>T	2.37:g.36771593C>T	ENSP00000280527:p.Pro900Ser					AC007401.2_ENST00000406220.1_Intron	p.P900S	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			15	3065	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	900					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.2698C>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258645	0.80246	.	.	ENSG00000150938	ENST00000280527	T	0.07114	3.22	5.77	5.77	0.91146	.	0.117723	0.56097	D	0.000021	T	0.19327	0.0464	L	0.29908	0.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.04360	-1.0957	10	0.22706	T	0.39	-15.3866	19.0471	0.93025	0.0:1.0:0.0:0.0	.	900	Q9NZV1	CRIM1_HUMAN	S	900	ENSP00000280527:P900S	ENSP00000280527:P900S	P	+	1	0	CRIM1	36625097	0.947000	0.32204	0.705000	0.30386	0.582000	0.36321	3.191000	0.50981	2.732000	0.93576	0.650000	0.86243	CCC		0.448	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		82	355	0	0	0	1	0	82	355					T	36771593	C	T	36771593	3	4	79	1	0	0	0	0	1	0	0	0	3882	855	30	2	2756	2	CRIM1	2	36771593	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67425	36771593	206427780	2351	12668											
VIT	5212	broad.mit.edu	37	chr2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accacgatggagagaatcctTtatcgtcttaggtatgacca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000389975.3	+	5	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000379242.3_Missense_Mutation_p.F133C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	133	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGAATCCTTTATCGTCTTA	0.443																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(397-399)tTt>tGt		vitrin							129	110	116					2																	36982186		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982186T>G	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.398T>G	2.37:g.36982186T>G	ENSP00000374625:p.Phe133Cys					VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000389975.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C	p.F133C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			5	700	+		all_hematologic(82;0.248)	133			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.398T>G	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815856	0.70912	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.63	5.63	0.86233	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.983;0.971;0.989;0.989;0.999	D	0.97115	0.9807	10	0.87932	D	0	-22.4825	15.5314	0.75964	0.0:0.0:0.0:1.0	.	133;133;133;133;133;133	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	133;133;133;133;111;133;133	ENSP00000368544:F133C;ENSP00000374625:F133C;ENSP00000393561:F133C;ENSP00000384154:F111C;ENSP00000368543:F133C;ENSP00000385658:F133C	ENSP00000368543:F133C	F	+	2	0	VIT	36835690	1.000000	0.71417	0.905000	0.35620	0.637000	0.38172	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TTT		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				46	222	0	0	0	1	0	46	222					G	36982186	T	G	36982186	3	3	79	1	0	0	0	0	1	0	0	0	17225	1841	64	4	412	4	VIT	2	36982186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210593	36982186	206217187	2352	12669											
VIT	5212	broad.mit.edu	37	chr2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactctgatgcagcttctggCtgtcactgtagctgtggcca	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000389975.3	+	7	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000379242.3_Missense_Mutation_p.A189D	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	189					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAGCTTCTGGCTGTCACTGTA	0.552																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(565-567)gCt>gAt		vitrin							78	69	72					2																	36994315		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36994315C>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.566C>A	2.37:g.36994315C>A	ENSP00000374625:p.Ala189Asp					VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.A189D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D	p.A189D	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			7	868	+		all_hematologic(82;0.248)	189					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.566C>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744730	0.30865	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.68765	-0.35;-0.28;-0.25;-0.19;-0.25	5.55	1.8	0.24995	.	0.653797	0.15080	N	0.281690	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.39782	0.094;0.302;0.201;0.688	B;B;B;B	0.36134	0.037;0.075;0.051;0.218	T	0.22347	-1.0219	10	0.30854	T	0.27	1.337	5.1502	0.15005	0.0:0.4925:0.2127:0.2948	.	189;189;189;189	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	D	189;189;167;189;189	ENSP00000368544:A189D;ENSP00000374625:A189D;ENSP00000384154:A167D;ENSP00000368543:A189D;ENSP00000385658:A189D	ENSP00000368543:A189D	A	+	2	0	VIT	36847819	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.630000	0.24553	0.051000	0.15978	-0.145000	0.13849	GCT		0.552	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				44	174	1	0	2.45108e-15	1	2.67628e-15	44	174					A	36994315	C	A	36994315	3	1	79	1	0	0	0	0	1	0	0	0	17225	797	28	3	713	3	VIT	2	36994315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12129	36994315	206205058	2353	12670											
VIT	5212	broad.mit.edu	37	chr2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtcatcgacggctccaGcagtgtggggacgggcaact	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000389975.3	+	14	1813	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	504	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACGGCTCCAGCAGTGTGGGG	0.612																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1555-1557)aGc>aTc		vitrin							66	64	65					2																	37035781		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035781G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1511G>T	2.37:g.37035781G>T	ENSP00000374625:p.Ser504Ile					VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000389975.3_Missense_Mutation_p.S504I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I	p.S519I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1858	+		all_hematologic(82;0.248)	504			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1556G>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916504	0.73098	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90202	0.4258	10	0.72032	D	0.01	-25.2816	18.9114	0.92487	0.0:0.0:1.0:0.0	.	483;482;504;519	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	519;504;173;456;482;483	ENSP00000368544:S519I;ENSP00000374625:S504I;ENSP00000417874:S173I;ENSP00000384154:S456I;ENSP00000368543:S482I;ENSP00000385658:S483I	ENSP00000368543:S482I	S	+	2	0	VIT	36889285	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.827000	0.99397	2.461000	0.83175	0.557000	0.71058	AGC		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				103	327	1	0	3.46703e-50	1	4.29469e-50	103	327					T	37035781	G	T	37035781	3	4	79	1	0	0	0	0	1	0	0	0	17225	971	34	3	1735	3	VIT	2	37035781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41466	37035781	206163592	2354	12671											
STRN	6801	broad.mit.edu	37	chr2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcccttgctgaatgatgCtaccatatggctcgggtcac	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	632					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1894-1896)Gca>Aca		striatin, calmodulin binding protein							165	140	149					2																	37082439		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37082439C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1894G>A	2.37:g.37082439C>T	ENSP00000263918:p.Ala632Thr					STRN_ENST00000379213.2_Missense_Mutation_p.A583T	p.A632T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			15	1902	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	632					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.1894G>A	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213098	0.39102	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.26810	1.71;1.71	5.21	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172324	0.53938	D	0.000053	T	0.16599	0.0399	N	0.26092	0.79	0.48040	D	0.999572	B;B	0.19817	0.028;0.039	B;B	0.20577	0.03;0.027	T	0.06232	-1.0838	10	0.15952	T	0.53	-14.2069	11.193	0.48696	0.0:0.8504:0.0:0.1496	.	583;632	O43815-2;O43815	.;STRN_HUMAN	T	632;607;583	ENSP00000263918:A632T;ENSP00000368513:A583T	ENSP00000263918:A632T	A	-	1	0	STRN	36935943	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.429000	0.34903	0.577000	0.29470	0.591000	0.81541	GCA		0.388	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			43	204	0	0	0	1	0	43	204					T	37082439	C	T	37082439	3	4	79	1	0	0	0	0	1	0	0	0	15381	797	28	2	464	2	STRN	2	37082439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46658	37082439	206116934	2355	12672											
HEATR5B	54497	broad.mit.edu	37	chr2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcaaaagaattttcaTccagcaggtaagatatcaaa	8	7	2	3	rs571134703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1988						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAATTTTCATCCAGCAGGTA	0.358																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5962-5964)gAt>gGt		HEAT repeat containing 5B							66	73	70					2																	37208886		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37208886T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5963A>G	2.37:g.37208886T>C	ENSP00000233099:p.Asp1988Gly					HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	p.D1988G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			36	6058	-		all_hematologic(82;0.21)	1988					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5963A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136813	0.77662	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51817	0.76;0.69	5.61	5.61	0.85477	Armadillo-type fold (1);	0.049812	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75615	2.305	0.34128	D	0.664921	P;P	0.41624	0.53;0.757	P;P	0.51866	0.571;0.682	T	0.75193	-0.3404	10	0.54805	T	0.06	-21.388	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1988;1988	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1988;1899	ENSP00000233099:D1988G;ENSP00000346531:D1899G	ENSP00000233099:D1988G	D	-	2	0	HEATR5B	37062390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.254000	0.74563	0.533000	0.62120	GAT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		126	358	0	0	0	1	0	126	358					C	37208886	T	C	37208886	3	2	79	1	0	0	0	0	1	0	0	0	7062	1435	50	4	256	4	HEATR5B	2	37208886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126447	37208886	205990487	2356	12673											
HEATR5B	54497	broad.mit.edu	37	chr2	37215952	37215952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggagttgaaagggcacgAttggaatgctggaagactga	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1916						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCACGATTGGAATGCT	0.363																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5746-5748)aaT>aaC		HEAT repeat containing 5B							105	110	108					2																	37215952		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37215952A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5748T>C	2.37:g.37215952A>G						HEATR5B_ENST00000354531.2_Silent_p.N1827N	p.N1916N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			35	5843	-		all_hematologic(82;0.21)	1916					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5748T>C	CCDS33181.1																																																																																				0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		88	320	0	0	0	1	0	88	320					G	37215952	A	G	37215952	2	3	79	1	0	0	0	0	0	0	0	1	7062	330	12	4		4	HEATR5B	2	37215952	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7066	37215952	205983421	2357	12674											
HEATR5B	54497	broad.mit.edu	37	chr2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgtacctgatcttctgCaatatggactcgagcataag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1632						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATCTTCTGCAATATGGACT	0.403																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4894-4896)Gca>Aca		HEAT repeat containing 5B							137	127	130					2																	37232786		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37232786C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4894G>A	2.37:g.37232786C>T	ENSP00000233099:p.Ala1632Thr					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			30	4989	-		all_hematologic(82;0.21)	1632					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4894G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629953	0.67015	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.52295	0.67;0.67	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056422	0.64402	D	0.000001	T	0.32466	0.0830	N	0.10874	0.06	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08493	-1.0719	10	0.22706	T	0.39	-17.3207	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1632	Q9P2D3	HTR5B_HUMAN	T	1632	ENSP00000233099:A1632T;ENSP00000346531:A1632T	ENSP00000233099:A1632T	A	-	1	0	HEATR5B	37086290	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GCA		0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		70	349	0	0	0	1	0	70	349					T	37232786	C	T	37232786	3	4	79	1	0	0	0	0	1	0	0	0	7062	710	25	2	1349	2	HEATR5B	2	37232786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16834	37232786	205966587	2358	12675											
HEATR5B	54497	broad.mit.edu	37	chr2	37268381	37268381	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacataacgatgcaaacaAccaagagccaatgaatgacc	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	917						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATGCAAACAACCAAGAGCCA	0.428																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2749-2751)ggT>ggC		HEAT repeat containing 5B							180	156	164					2																	37268381		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37268381A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2751T>C	2.37:g.37268381A>G						HEATR5B_ENST00000354531.2_Silent_p.G917G	p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2846	-		all_hematologic(82;0.21)	917					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2751T>C	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		132	408	0	0	0	1	0	132	408					G	37268381	A	G	37268381	2	3	79	1	0	0	0	0	0	0	0	1	7062	30	2	4		4	HEATR5B	2	37268381	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35595	37268381	205930992	2359	12676											
HEATR5B	54497	broad.mit.edu	37	chr2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaccaaaaagggccacagAagcatcaatgactgagactc	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	784						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGGCCACAGAAGCATCAATG	0.408																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2350-2352)Tct>Gct		HEAT repeat containing 5B							90	96	94					2																	37283632		2202	4300	6502	SO:0001583	missense	54497						binding	g.chr2:37283632A>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2350T>G	2.37:g.37283632A>C	ENSP00000233099:p.Ser784Ala					HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			16	2445	-		all_hematologic(82;0.21)	784					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2350T>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	8.025	0.760378	0.15914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.58652	0.32;0.32	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.13168	0.305	0.58432	D	0.999998	B	0.09022	0.002	B	0.15052	0.012	T	0.31052	-0.9957	10	0.02654	T	1	-18.8094	15.5924	0.76543	1.0:0.0:0.0:0.0	.	784	Q9P2D3	HTR5B_HUMAN	A	784	ENSP00000233099:S784A;ENSP00000346531:S784A	ENSP00000233099:S784A	S	-	1	0	HEATR5B	37137136	1.000000	0.71417	0.661000	0.29709	0.879000	0.50718	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	TCT		0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		144	441	0	0	0	1	0	144	441					C	37283632	A	C	37283632	3	2	79	1	0	0	0	0	1	0	0	0	7062	246	9	4	3949	4	HEATR5B	2	37283632	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15251	37283632	205915741	2360	12677											
HEATR5B	54497	broad.mit.edu	37	chr2	37286131	37286131	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacgaagctcctcatggCtagataaaatgtttaaaagg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCCTCATGGCTAGATAAAAT	0.328																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.e13-1		HEAT repeat containing 5B							79	75	76					2																	37286131		2203	4300	6503	SO:0001630	splice_region_variant	54497						binding	g.chr2:37286131C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1850-1G>A	2.37:g.37286131C>T						HEATR5B_ENST00000354531.2_Splice_Site		NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			13	1945	-		all_hematologic(82;0.21)						B5MDU8|Q7Z3B2|Q9NVL7	Splice_Site	SNP	ENST00000233099.5	37		CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304176	0.81136	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37139635	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.979000	0.70508	2.932000	0.99384	0.644000	0.83932	.		0.328	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Intron	29	196	0	0	0	1	0	29	196					T	37286131	C	T	37286131	5	4	79	1	0	0	0	0	0	0	1	0	7062	811	28	2	4462	2	HEATR5B	2	37286131	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	37286131	205913242	2361	12678											
HEATR5B	54497	broad.mit.edu	37	chr2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgttgtcacaaaaacaAcatacgcctgtaaaaagagg	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	312						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAAAACAACATACGCCTG	0.423																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(934-936)gTt>gCt		HEAT repeat containing 5B							57	55	56					2																	37296066		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37296066A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.935T>C	2.37:g.37296066A>G	ENSP00000233099:p.Val312Ala					HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			8	1030	-		all_hematologic(82;0.21)	312					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.935T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370946	0.82573	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07800	3.16;3.16	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00731	-1.1590	10	0.34782	T	0.22	-25.8704	16.1819	0.81915	1.0:0.0:0.0:0.0	.	312	Q9P2D3	HTR5B_HUMAN	A	312	ENSP00000233099:V312A;ENSP00000346531:V312A	ENSP00000233099:V312A	V	-	2	0	HEATR5B	37149570	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.182000	0.94881	2.279000	0.76181	0.533000	0.62120	GTT		0.423	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		50	132	0	0	0	1	0	50	132					G	37296066	A	G	37296066	3	3	79	1	0	0	0	0	1	0	0	0	7062	43	2	4	5396	4	HEATR5B	2	37296066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9935	37296066	205903307	2362	12679											
EIF2AK2	5610	broad.mit.edu	37	chr2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctgctgagaagtcacCttcagatgatgattcagaag	10	7	4	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	206					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(616-618)Ggt>Tgt		eukaryotic translation initiation factor 2-alpha kinase 2							115	117	116					2																	37365484		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37365484C>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.616G>T	2.37:g.37365484C>A	ENSP00000233057:p.Gly206Cys					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			8	938	-		all_hematologic(82;0.248)	206					A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.616G>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161239	0.21538	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.75821	-0.92;-0.92;-0.97	3.68	1.3	0.21679	.	0.813962	0.10845	N	0.627788	T	0.53965	0.1829	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43392	0.805;0.805;0.805;0.805	B;B;B;B	0.39185	0.293;0.285;0.285;0.198	T	0.46386	-0.9195	10	0.62326	D	0.03	-6.8153	5.5406	0.17036	0.0:0.2286:0.0:0.7714	.	206;206;206;206	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	206	ENSP00000233057:G206C;ENSP00000378559:G206C;ENSP00000385014:G206C	ENSP00000233057:G206C	G	-	1	0	EIF2AK2	37218988	0.006000	0.16342	0.009000	0.14445	0.001000	0.01503	0.034000	0.13776	0.267000	0.21916	-0.416000	0.06073	GGT		0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		63	321	1	0	2.73361e-28	1	3.17826e-28	63	321					A	37365484	C	A	37365484	3	1	79	1	0	0	0	0	1	0	0	0	5013	681	24	3	1079	3	EIF2AK2	2	37365484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69418	37365484	205833889	2363	12680											
SULT6B1	391365	broad.mit.edu	37	chr2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagatagacccaggtaatTtgtcatagtggaggtgagtt	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000535679.1	-	3	367	c.368A>C	c.(367-369)aAa>aCa	p.K123T	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	123						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(367-369)aAa>aCa		sulfotransferase family, cytosolic, 6B, member 1							134	132	133					2																	37410602		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37410602T>G	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.368A>C	2.37:g.37410602T>G	ENSP00000444081:p.Lys123Thr					SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T	p.K123T			Q6IMI4	ST6B1_HUMAN			3	367	-		all_hematologic(82;0.248)	123					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.368A>C		.	.	.	.	.	.	.	.	.	.	T	11.41	1.630608	0.28978	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.10960	2.82;2.82;2.82	4.73	3.59	0.41128	Sulfotransferase domain (1);	0.363897	0.29198	N	0.012846	T	0.11922	0.0290	L	0.39147	1.195	0.27889	N	0.939396	P	0.34615	0.459	B	0.42959	0.403	T	0.15292	-1.0442	10	0.22706	T	0.39	.	9.2246	0.37398	0.0:0.0873:0.0:0.9127	.	123	Q6IMI4	ST6B1_HUMAN	T	123;85;85	ENSP00000444081:K123T;ENSP00000260637:K85T;ENSP00000384950:K85T	ENSP00000260637:K85T	K	-	2	0	SULT6B1	37264106	0.768000	0.28519	0.991000	0.47740	0.980000	0.70556	0.641000	0.24720	0.843000	0.35070	0.477000	0.44152	AAA		0.358	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		146	340	0	0	0	1	0	146	340					G	37410602	T	G	37410602	3	3	79	1	0	0	0	0	1	0	0	0	15436	1841	64	4	563	4	SULT6B1	2	37410602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45118	37410602	205788771	2364	12681											
SULT6B1	391365	broad.mit.edu	37	chr2	37415634	37415634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgtctggcttcgaaGgtgtccagcgcttggaaagt	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000535679.1	-	1	149	c.150C>A	c.(148-150)acC>acA	p.T50T	SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	50						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGCTTCGAAGGTGTCCAGCG	0.438																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(148-150)acC>acA		sulfotransferase family, cytosolic, 6B, member 1							213	183	193					2																	37415634		2203	4300	6503	SO:0001819	synonymous_variant	391365					cytoplasm	sulfotransferase activity	g.chr2:37415634G>T	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.150C>A	2.37:g.37415634G>T						SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T	p.T50T			Q6IMI4	ST6B1_HUMAN			1	149	-		all_hematologic(82;0.248)	50					B2RTS7	Silent	SNP	ENST00000535679.1	37	c.150C>A																																																																																					0.438	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		13	536	1	0	1.49906e-05	1	1.53515e-05	13	536					T	37415634	G	T	37415634	2	4	79	1	0	0	0	0	0	0	0	1	15436	987	35	3		3	SULT6B1	2	37415634	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5032	37415634	205783739	2365	12682											
CEBPZ	10153	broad.mit.edu	37	chr2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtataatgctgtgtaatatcGatccgatattgtctgctgag	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	543					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GTGTAATATCGATCCGATATT	0.378																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1627-1629)Cga>Tga		CCAAT/enhancer binding protein (C/EBP), zeta							112	114	113					2																	37454709		2203	4300	6503	SO:0001587	stop_gained	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454709G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1627C>T	2.37:g.37454709G>A	ENSP00000234170:p.Arg543*						p.R543*	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1772	-		all_hematologic(82;0.21)	543					Q8NE75	Nonsense_Mutation	SNP	ENST00000234170.5	37	c.1627C>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	39	7.375508	0.98245	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7983	0.63184	0.0:0.0:0.7444:0.2555	.	.	.	.	X	543	.	ENSP00000234170:R543X	R	-	1	2	CEBPZ	37308213	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.836000	0.69375	2.694000	0.91930	0.585000	0.79938	CGA		0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		181	508	0	0	0	1	0	181	508					A	37454709	G	A	37454709	4	1	79	1	0	0	0	0	0	1	0	0	3213	1066	37	1	1597	1	CEBPZ	2	37454709	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39075	37454709	205744664	2366	12683											
CEBPZ	10153	broad.mit.edu	37	chr2	37454764	37454764	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaagcaacattaaagcctgGacactggtattaaaattcac	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	524					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAGCCTGGACACTGGTAT	0.378																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1570-1572)gtC>gtA		CCAAT/enhancer binding protein (C/EBP), zeta							112	111	111					2																	37454764		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454764G>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1572C>A	2.37:g.37454764G>T							p.V524V	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1717	-		all_hematologic(82;0.21)	524					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1572C>A	CCDS1787.1																																																																																				0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		112	521	1	0	1.43872e-54	1	1.79623e-54	112	521					T	37454764	G	T	37454764	2	4	79	1	0	0	0	0	0	0	0	1	3213	1161	41	3		3	CEBPZ	2	37454764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	37454764	205744609	2367	12684											
C2orf56	55471	broad.mit.edu	37	chr2	37464951	37464951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccactggaaaaagcacaGctttccagctggtggaactg	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37464951G>T	ENST00000002125.4	+	4	389	c.349G>T	c.(349-351)Gct>Tct	p.A117S	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.A90S	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	117					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AAAAAGCACAGCTTTCCAGCT	0.388																																						ENST00000002125.4																			0											c.(349-351)Gct>Tct		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7							53	63	59					2																	37464951		2203	4300	6503	SO:0001583	missense	55471							g.chr2:37464951G>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.349G>T	2.37:g.37464951G>T	ENSP00000002125:p.Ala117Ser					NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.A90S	p.A117S	NM_144736.4	NP_653337.1					4	389	+								Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.349G>T	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951916	0.34471	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.84	1.6	0.23607	.	0.402717	0.28156	N	0.016390	T	0.52709	0.1751	N	0.20357	0.565	0.09310	N	1	B;B;B;B	0.20459	0.005;0.045;0.037;0.005	B;B;B;B	0.24848	0.012;0.056;0.033;0.019	T	0.29243	-1.0018	10	0.18276	T	0.48	-11.7246	5.0397	0.14452	0.4036:0.0:0.4579:0.1386	.	90;117;90;117	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	S	117;90;38;75;75;75	ENSP00000002125:A117S;ENSP00000337431:A90S;ENSP00000399207:A38S;ENSP00000410181:A75S;ENSP00000394436:A75S;ENSP00000402959:A75S	ENSP00000002125:A117S	A	+	1	0	C2orf56	37318455	0.016000	0.18221	0.867000	0.34043	0.922000	0.55478	0.585000	0.23879	0.389000	0.25086	0.655000	0.94253	GCT		0.388	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		45	213	1	0	5.22555e-25	1	5.98653e-25	45	213					T	37464951	G	T	37464951	3	4	79	1	0	0	0	0	1	0	0	0	2184	971	34	3	363	3	C2orf56	2	37464951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10187	37464951	205734422	2368	12685											
PRKD3	23683	broad.mit.edu	37	chr2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaaggcagtctcttgGtacttttgatgcacagcgtt	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3	318					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAGTCTCTTGGTACTTTTGAT	0.318																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(952-954)Cca>Tca		protein kinase D3							117	117	117					2																	37509721		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37509721G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.952C>T	2.37:g.37509721G>A	ENSP00000368356:p.Pro318Ser					PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S	p.P318S			O94806	KPCD3_HUMAN			7	1714	-		all_hematologic(82;0.21)	318					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.952C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320904	0.95682	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92911	-3.13;-3.13	5.62	5.62	0.85841	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.988;0.994	D	0.95794	0.8827	10	0.87932	D	0	-14.6863	20.024	0.97514	0.0:0.0:1.0:0.0	.	318;318	O94806-2;O94806	.;KPCD3_HUMAN	S	318	ENSP00000368356:P318S;ENSP00000234179:P318S	ENSP00000234179:P318S	P	-	1	0	PRKD3	37363225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CCA		0.318	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		104	325	0	0	0	1	0	104	325					A	37509721	G	A	37509721	3	1	79	1	0	0	0	0	1	0	0	0	12567	1261	44	2	1772	2	PRKD3	2	37509721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44770	37509721	205689652	2369	12686											
PRKD3	23683	broad.mit.edu	37	chr2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtacttttgatgcacagCgtttatggcagttgaatttg	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3	312					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGATGCACAGCGTTTATGGCA	0.313																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(934-936)cGc>cAc		protein kinase D3							114	114	114					2																	37509738		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37509738C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.935G>A	2.37:g.37509738C>T	ENSP00000368356:p.Arg312His					PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H	p.R312H			O94806	KPCD3_HUMAN			7	1697	-		all_hematologic(82;0.21)	312					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.935G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579135	0.96565	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.93604	-3.25;-3.25	5.51	5.51	0.81932	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.847;0.996	D	0.96357	0.9263	10	0.87932	D	0	-14.1888	19.7654	0.96337	0.0:1.0:0.0:0.0	.	312;312	O94806-2;O94806	.;KPCD3_HUMAN	H	312	ENSP00000368356:R312H;ENSP00000234179:R312H	ENSP00000234179:R312H	R	-	2	0	PRKD3	37363242	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGC		0.313	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		99	316	0	0	0	1	0	99	316					T	37509738	C	T	37509738	3	4	79	1	0	0	0	0	1	0	0	0	12567	768	27	1	1789	1	PRKD3	2	37509738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	37509738	205689635	2370	12687											
PRKD3	23683	broad.mit.edu	37	chr2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcatgtcatggcgaaagaGaagaattttgtcatacatgc	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3	111					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGCGAAAGAGAAGAATTTTG	0.373																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(331-333)Ctc>Atc		protein kinase D3							105	99	101					2																	37520372		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520372G>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.331C>A	2.37:g.37520372G>T	ENSP00000368356:p.Leu111Ile					PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I	p.L111I			O94806	KPCD3_HUMAN			3	1093	-		all_hematologic(82;0.21)	111					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.331C>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804090	0.90623	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.90261	-0.82;-0.82;-2.64	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.94650	0.8275	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.99;0.992	D	0.94648	0.7836	10	0.66056	D	0.02	-9.5135	12.6994	0.57022	0.0755:0.0:0.9245:0.0	.	111;111	O94806-2;O94806	.;KPCD3_HUMAN	I	111;111;7	ENSP00000368356:L111I;ENSP00000234179:L111I;ENSP00000401839:L7I	ENSP00000234179:L111I	L	-	1	0	PRKD3	37373876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.634000	0.89283	0.655000	0.94253	CTC		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		47	315	1	0	3.86361e-14	1	4.18898e-14	47	315					T	37520372	G	T	37520372	3	4	79	1	0	0	0	0	1	0	0	0	12567	942	33	3	2409	3	PRKD3	2	37520372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	37520372	205679001	2371	12688											
QPCT	25797	broad.mit.edu	37	chr2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggctgactgggtcttgGaaatagacaccttcttgagt	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	105					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGGGTCTTGGAAATAGACAC	0.423																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(313-315)Gaa>Aaa		glutaminyl-peptide cyclotransferase							83	72	76					2																	37586768		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586768G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.313G>A	2.37:g.37586768G>A	ENSP00000344829:p.Glu105Lys					QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	p.E105K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			3	471	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	105					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.313G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445183	0.83993	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	5.53	0.82687	.	0.098347	0.64402	D	0.000001	T	0.57344	0.2047	M	0.85462	2.755	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.57152	0.561;0.814	T	0.64019	-0.6505	10	0.66056	D	0.02	-11.9925	19.4608	0.94916	0.0:0.0:1.0:0.0	.	56;105	Q16769-2;Q16769	.;QPCT_HUMAN	K	105;56;56	ENSP00000344829:E105K;ENSP00000385391:E56K;ENSP00000441606:E56K	ENSP00000344829:E105K	E	+	1	0	QPCT	37440272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.119000	0.71590	2.587000	0.87381	0.655000	0.94253	GAA		0.423	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			71	338	0	0	0	1	0	71	338					A	37586768	G	A	37586768	3	1	79	1	0	0	0	0	1	0	0	0	12924	1175	41	2	323	2	QPCT	2	37586768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66396	37586768	205612605	2372	12689											
FAM82A1	151393	broad.mit.edu	37	chr2	38179198	38179198	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcccattcctccataaAgctggattttcttcatctta	3	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38179198A>C	ENST00000406384.1	+	3	646				RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.K280N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.K280N|RMDN2_ENST00000402091.3_Missense_Mutation_p.K280N	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCTCCATAAAGCTGGATTTT	0.408																																						ENST00000407257.1																			0											c.(838-840)aaA>aaC		regulator of microtubule dynamics 2							91	94	93					2																	38179198		2203	4299	6502	SO:0001627	intron_variant	151393							g.chr2:38179198A>C	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-21985A>C	2.37:g.38179198A>C						RMDN2_ENST00000402091.3_Missense_Mutation_p.K280N|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.K280N|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA	p.K280N							2	987	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.840A>C	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	A	4.017	0.000662	0.07819	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.44083	0.93;0.93	3.91	-6.92	0.01644	.	.	.	.	.	T	0.19046	0.0457	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26326	-1.0106	9	0.87932	D	0	-0.3811	4.447	0.11602	0.5497:0.1792:0.0:0.2711	.	280	Q96LZ7-2	.	N	280	ENSP00000385049:K280N;ENSP00000234195:K280N	ENSP00000234195:K280N	K	+	3	2	FAM82A1	38032702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.328000	0.02680	-1.468000	0.01892	-0.624000	0.04008	AAA		0.408	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		123	576	0	0	0	1	0	123	576					C	38179198	A	C	38179198	1	2	79	0	1	0	0	0	0	0	0	0	5655	69	3	4		4	FAM82A1	2	38179198	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592430	38179198	205020175	2373	12690											
FAM82A1	151393	broad.mit.edu	37	chr2	38202392	38202392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatgtggcgatttgctcGtgcttatggagacatgtatg	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38202392G>A	ENST00000406384.1	+	4	859	c.665G>A	c.(664-666)cGt>cAt	p.R222H	RMDN2_ENST00000354545.2_Missense_Mutation_p.R222H|RMDN2_ENST00000234195.3_Missense_Mutation_p.R400H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.R77H|RMDN2_ENST00000407257.1_Missense_Mutation_p.R400H	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	222						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											CGATTTGCTCGTGCTTATGGA	0.318																																						ENST00000407257.1																			0											c.(1198-1200)cGt>cAt		regulator of microtubule dynamics 2							124	120	121					2																	38202392		2203	4300	6503	SO:0001583	missense	151393							g.chr2:38202392G>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.665G>A	2.37:g.38202392G>A	ENSP00000386004:p.Arg222His					RMDN2_ENST00000417700.2_Missense_Mutation_p.R77H|RMDN2_ENST00000406384.1_Missense_Mutation_p.R222H|RMDN2_ENST00000234195.3_Missense_Mutation_p.R400H|RMDN2_ENST00000354545.2_Missense_Mutation_p.R222H|RMDN2-AS1_ENST00000414365.2_RNA	p.R400H							4	1346	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1199G>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831327	0.71258	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.98	4.98	0.66077	.	0.072416	0.56097	D	0.000028	T	0.72740	0.3498	M	0.80847	2.515	0.40703	D	0.982502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.992;0.991	T	0.77046	-0.2733	10	0.72032	D	0.01	.	13.6036	0.62035	0.0:0.0:1.0:0.0	.	400;77;222;77	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	H	222;222;400;77;400;77	ENSP00000346549:R222H;ENSP00000386004:R222H;ENSP00000385049:R400H;ENSP00000392977:R77H;ENSP00000234195:R400H;ENSP00000416367:R77H	ENSP00000234195:R400H	R	+	2	0	FAM82A1	38055896	0.995000	0.38212	0.638000	0.29380	0.956000	0.61745	5.275000	0.65575	2.576000	0.86940	0.563000	0.77884	CGT		0.318	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		92	242	0	0	0	1	0	92	242					A	38202392	G	A	38202392	3	1	79	1	0	0	0	0	1	0	0	0	5655	1145	40	1	1669	1	FAM82A1	2	38202392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23194	38202392	204996981	2374	12691											
CYP1B1	1545	broad.mit.edu	37	chr2	38298132	38298132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcactctgctggtcagGtccttgttgatgaggccatc	10	11	4	2	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Silent_p.D455D	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	455					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TGCTGGTCAGGTCCTTGTTGA	0.488																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1363-1365)gaC>gaT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)	G		1,4405	2.1+/-5.4	0,1,2202	83	78	79		1365	0.8	1	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CYP1B1	NM_000104.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		455/544	38298132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298132G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1365C>T	2.37:g.38298132G>A						CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Silent_p.D455D	p.D455D	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1766	-		all_hematologic(82;0.21)	455					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.1365C>T	CCDS1793.1																																																																																				0.488	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		58	272	0	0	0	1	0	58	272					A	38298132	G	A	38298132	2	1	79	1	0	0	0	0	0	0	0	1	4162	1252	44	2		2	CYP1B1	2	38298132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95740	38298132	204901241	2375	12692											
CYP1B1	1545	broad.mit.edu	37	chr2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtgacaggcacaaagCtggagaagcgcatggcttca	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	393					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AGGCACAAAGCTGGAGAAGCG	0.547																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1177-1179)aGc>aTc		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						49	43	45					2																	38298319		2203	4298	6501	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298319C>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1178G>T	2.37:g.38298319C>A	ENSP00000260630:p.Ser393Ile					CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	p.S393I	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1579	-		all_hematologic(82;0.21)	393					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1178G>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240725	0.79912	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.80033	-1.33;-1.33	5.85	4.97	0.65823	.	0.255155	0.50627	D	0.000108	D	0.90109	0.6910	M	0.85859	2.78	0.45250	D	0.99825	D	0.76494	0.999	D	0.76575	0.988	D	0.91609	0.5301	10	0.87932	D	0	.	14.1707	0.65508	0.1509:0.8491:0.0:0.0	.	393	Q53TK1	.	I	393	ENSP00000260630:S393I;ENSP00000384972:S393I	ENSP00000260630:S393I	S	-	2	0	CYP1B1	38151823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	1.461000	0.47929	0.655000	0.94253	AGC		0.547	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		66	190	1	0	9.5628e-27	1	1.10398e-26	66	190					A	38298319	C	A	38298319	3	1	79	1	0	0	0	0	1	0	0	0	4162	797	28	3	457	3	CYP1B1	2	38298319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	38298319	204901054	2376	12693											
GALM	130589	broad.mit.edu	37	chr2	38956827	38956828	+	Frame_Shift_Ins	INS	-	-	T													aagggatctaaagaaaagcaINStttttgtgcaaggtcaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38956827_38956828insT	ENST00000272252.5	+	5	1016_1017	c.764_765insT	c.(763-768)cattttfs	p.HF255fs	GALM_ENST00000410063.1_Frame_Shift_Ins_p.HF107fs	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	255					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AAAGAAAAGCATTTTTGTGCAA	0.426																																						ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(763-765)cttfs		galactose mutarotase (aldose 1-epimerase)																																				SO:0001589	frameshift_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38956827_38956828insT		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"aldose 1 epimerase"	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.769dupT	2.37:g.38956832_38956832dupT	ENSP00000272252:p.His255fs					GALM_ENST00000410063.1_Frame_Shift_Ins_p.L107fs	p.L255fs	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			5	1016_1017	+		all_hematologic(82;0.248)	255					Q53RY1|Q8NIA2|V9HWA8	Frame_Shift_Ins	INS	ENST00000272252.5	37	c.764_765insT	CCDS1797.1																																																																																				0.426	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		8	732						8	732	---	---	---	---	T	38956828	-	T	38956827	7	5	79	1	0	1	1	0	0	0	0	0	6233	217	8	0	782	0	GALM	2	38956827	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	658508	38956827	204242546	2377	12694											
SFRS7	6432	broad.mit.edu	37	chr2	38976720	38976720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcataagcataatgtcCcttttcgccacactcatagc	4	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38976720C>T	ENST00000313117.6	-	3	574	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SRSF7_ENST00000446327.2_Missense_Mutation_p.G113R|SRSF7_ENST00000409276.1_Missense_Mutation_p.G113R|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	113					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCATAATGTCCCTTTTCGCCA	0.418																																						ENST00000313117.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(337-339)Gga>Aga		serine/arginine-rich splicing factor 7							157	149	152					2																	38976720		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38976720C>T	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.337G>A	2.37:g.38976720C>T	ENSP00000325905:p.Gly113Arg					SRSF7_ENST00000446327.2_Missense_Mutation_p.G113R|SRSF7_ENST00000409276.1_Missense_Mutation_p.G113R	p.G113R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			3	574	-			113					B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.337G>A	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788892	0.90367	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.96491	-4.03;-4.03;-4.03	6.03	6.03	0.97812	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.64402	D	0.000001	D	0.98188	0.9401	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	113;113	G5E9M3;Q16629	.;SRSF7_HUMAN	R	113	ENSP00000325905:G113R;ENSP00000402264:G113R;ENSP00000386806:G113R	ENSP00000325905:G113R	G	-	1	0	SRSF7	38830224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.507000	0.81676	2.861000	0.98227	0.655000	0.94253	GGA		0.418	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		79	848	0	0	0	1	0	79	848					T	38976720	C	T	38976720	3	4	79	1	0	0	0	0	1	0	0	0	14232	632	22	2	403	2	SFRS7	2	38976720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19893	38976720	204222653	2378	12695											
GEMIN6	79833	broad.mit.edu	37	chr2	39008821	39008821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagcatacagcccagaGgatctggaagagagaaagaa	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.3	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	97					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ACAGCCCAGAGGATCTGGAAG	0.493																																						ENST00000281950.2																			0				kidney(1)|large_intestine(3)|pancreas(1)	5						c.(289-291)gaG>gaT		gem (nuclear organelle) associated protein 6							89	76	81					2																	39008821		2203	4300	6503	SO:0001583	missense	79833				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr2:39008821G>T	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.291G>T	2.37:g.39008821G>T	ENSP00000281950:p.Glu97Asp					GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	p.E97D	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN			3	407	+		all_hematologic(82;0.21)	97					B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	c.291G>T	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413864	0.42817	.	.	ENSG00000152147	ENST00000281950	T	0.52057	0.68	5.78	4.9	0.64082	.	0.096259	0.64402	D	0.000001	T	0.46151	0.1378	L	0.48362	1.52	0.80722	D	1	P	0.38745	0.645	P	0.44623	0.455	T	0.44251	-0.9340	10	0.49607	T	0.09	-23.839	8.9799	0.35959	0.2233:0.0:0.7767:0.0	.	97	Q8WXD5	GEMI6_HUMAN	D	97	ENSP00000281950:E97D	ENSP00000281950:E97D	E	+	3	2	GEMIN6	38862325	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.425000	0.44723	1.459000	0.47892	0.591000	0.81541	GAG		0.493	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			9	306	1	0	0.00448238	1	0.00451339	9	306					T	39008821	G	T	39008821	3	4	79	1	0	0	0	0	1	0	0	0	6361	991	35	3	297	3	GEMIN6	2	39008821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32101	39008821	204190552	2379	12696											
DHX57	90957	broad.mit.edu	37	chr2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctcggatgaatactcGactagtttttatcttctcgt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1291							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAATACTCGACTAGTTTTT	0.473																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3871-3873)Cga>Tga		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							190	183	185					2																	39030003		2203	4300	6503	SO:0001587	stop_gained	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39030003G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3871C>T	2.37:g.39030003G>A	ENSP00000295373:p.Arg1291*						p.R1291*	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			23	3997	-		all_hematologic(82;0.248)	1291					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	c.3871C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.309689|5.309689	0.95629|0.95629	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|T	.|0.05717	.|3.4	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.48767|.	D|.	0.000166|.	.|T	.|0.18257	.|0.0438	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	0.06625|0.87932	T|D	0.88|0	.|.	14.431|14.431	0.67251|0.67251	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	.|.	.|.	.|.	X|L	1291|569	.|ENSP00000397841:S569L	ENSP00000295373:R1291X|ENSP00000397841:S569L	R|S	-|-	1|2	2|0	DHX57|DHX57	38883507|38883507	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.159000|0.159000	0.22180|0.22180	7.860000|7.860000	0.86993|0.86993	1.381000|1.381000	0.46364|0.46364	0.455000|0.455000	0.32223|0.32223	CGA|TCG		0.473	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		126	622	0	0	0	1	0	126	622					A	39030003	G	A	39030003	4	1	79	1	0	0	0	0	0	1	0	0	4529	1066	37	1	297	1	DHX57	2	39030003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21182	39030003	204169370	2380	12697											
DHX57	90957	broad.mit.edu	37	chr2	39033740	39033740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaatgtgtacatatccAtcgttcttggtgacaaactt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1259							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACATATCCATCGTTCTTGG	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3775-3777)gaT>gaC		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							221	189	200					2																	39033740		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39033740A>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3777T>C	2.37:g.39033740A>G							p.D1259D	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			22	3903	-		all_hematologic(82;0.248)	1259					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.3777T>C	CCDS1800.1																																																																																				0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		45	477	0	0	0	1	0	45	477					G	39033740	A	G	39033740	2	3	79	1	0	0	0	0	0	0	0	1	4529	214	8	4		4	DHX57	2	39033740	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3737	39033740	204165633	2381	12698											
DHX57	90957	broad.mit.edu	37	chr2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccccagatgcaacacGgcctgctcggcctttccttt	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	967	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GATGCAACACGGCCTGCTCGG	0.428																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2899-2901)Cgt>Tgt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							102	97	99					2																	39053104		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053104G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2899C>T	2.37:g.39053104G>A	ENSP00000295373:p.Arg967Cys						p.R967C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			16	3025	-		all_hematologic(82;0.248)	967			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2899C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185001|5.185001	0.94885|0.94885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|D	.|0.94793	.|-3.52	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Helicase, C-terminal (3);	.|0.000000	.|0.56097	.|D	.|0.000036	D|D	0.98551|0.98551	0.9516|0.9516	H|H	0.98155|0.98155	4.16|4.16	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	0.99379|0.99379	1.0922|1.0922	5|10	.|0.87932	.|D	.|0	.|.	19.7628|19.7628	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;359	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	L|C	290|967	.|ENSP00000295373:R967C	.|ENSP00000295373:R967C	P|R	-|-	2|1	0|0	DHX57|DHX57	38906608|38906608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.338000|9.338000	0.96553|0.96553	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	CCG|CGT		0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		115	315	0	0	0	1	0	115	315					A	39053104	G	A	39053104	3	1	79	1	0	0	0	0	1	0	0	0	4529	1116	39	1	1297	1	DHX57	2	39053104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	39053104	204146269	2382	12699											
DHX57	90957	broad.mit.edu	37	chr2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccattcagagaatcatccaGaataaactgcggaatttgtg	8	8	2	2	rs374541160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	582	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAATCATCCAGAATAAACTGC	0.413																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1744-1746)Ctg>Atg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							124	119	120					2																	39082360		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39082360G>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1744C>A	2.37:g.39082360G>T	ENSP00000295373:p.Leu582Met						p.L582M	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			8	1870	-		all_hematologic(82;0.248)	582			Helicase ATP-binding.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1744C>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564249	0.65651	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.26	4.38	0.52667	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40728	N	0.001022	T	0.24353	0.0590	M	0.74546	2.27	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	.	6.7108	0.23276	0.3053:0.0:0.6947:0.0	.	582;582;582	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	M	582	ENSP00000295373:L582M	ENSP00000295373:L582M	L	-	1	2	DHX57	38935864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.350000	0.45770	0.650000	0.86243	CTG		0.413	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		202	604	1	0	2.09317e-103	1	2.69287e-103	202	604					T	39082360	G	T	39082360	3	4	79	1	0	0	0	0	1	0	0	0	4529	933	33	3	2484	3	DHX57	2	39082360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29256	39082360	204117013	2383	12700											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		8	683						8	683	---	---	---	---	-	39095413	CCA	-	39095411	7	5	79	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-7651-01A-11D-2154-08	13051	39095411	204103962	2384	12701											
DHX57	90957	broad.mit.edu	37	chr2	39095428	39095428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaccaccaccaccaccGccaccgccaccactcccatg	3	26	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095428G>A	ENST00000295373.6	-	2	246	c.120C>T	c.(118-120)ggC>ggT	p.G40G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	40	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				caccaccaccgccaccgccac	0.542																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(118-120)ggC>ggT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							69	72	71					2																	39095428		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095428G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.120C>T	2.37:g.39095428G>A							p.G40G	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	246	-		all_hematologic(82;0.248)	40			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.120C>T	CCDS1800.1																																																																																				0.542	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		93	578	0	0	0	1	0	93	578					A	39095428	G	A	39095428	2	1	79	1	0	0	0	0	0	0	0	1	4529	1074	38	1		1	DHX57	2	39095428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	39095428	204103945	2385	12702											
SOS1	6654	broad.mit.edu	37	chr2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcattgttacatcaaGcatcctttccagtgtactcc	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000426016.1	-	11	1746	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000395038.2_Missense_Mutation_p.L554F|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	554			LDVTM -> K (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTACATCAAGCATCCTTTCC	0.398									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1660-1662)Ctt>Ttt		son of sevenless homolog 1 (Drosophila)							160	151	154					2																	39249909		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39249909G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1660C>T	2.37:g.39249909G>A	ENSP00000387784:p.Leu554Phe					SOS1_ENST00000395038.2_Missense_Mutation_p.L554F|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F	p.L554F			Q07889	SOS1_HUMAN			11	1746	-		all_hematologic(82;0.21)	554					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1660C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539986	0.65085	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93779	0.7082	10	0.87932	D	0	.	7.5761	0.27937	0.195:0.0:0.805:0.0	.	286;554	F5GX06;Q07889	.;SOS1_HUMAN	F	554;554;286;554;554	ENSP00000387784:L554F;ENSP00000384675:L554F;ENSP00000378479:L554F	ENSP00000263879:L554F	L	-	1	0	SOS1	39103413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	2.722000	0.93159	0.557000	0.71058	CTT		0.398	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		139	398	0	0	0	1	0	139	398					A	39249909	G	A	39249909	3	1	79	1	0	0	0	0	1	0	0	0	14986	971	34	2	2397	2	SOS1	2	39249909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154481	39249909	203949464	2386	12703											
SOS1	6654	broad.mit.edu	37	chr2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttaataaaggatgaAttttttctactgggagagat	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000426016.1	-	4	415	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000395038.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	110					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAAGGATGAATTTTTTCTAC	0.343									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(328-330)aTt>aAt		son of sevenless homolog 1 (Drosophila)							96	102	100					2																	39285830		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39285830A>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.329T>A	2.37:g.39285830A>T	ENSP00000387784:p.Ile110Asn					SOS1_ENST00000395038.2_Missense_Mutation_p.I110N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N	p.I110N			Q07889	SOS1_HUMAN			4	415	-		all_hematologic(82;0.21)	110					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.329T>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612252	0.87258	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.9	5.9	0.94986	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	110	Q07889	SOS1_HUMAN	N	110;110;110;110;53;53	ENSP00000387784:I110N;ENSP00000384675:I110N;ENSP00000378479:I110N;ENSP00000399992:I53N;ENSP00000393899:I53N	ENSP00000263879:I110N	I	-	2	0	SOS1	39139334	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATT		0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		104	530	0	0	0	1	0	104	530					T	39285830	A	T	39285830	3	4	79	1	0	0	0	0	1	0	0	0	14986	101	4	5	3756	5	SOS1	2	39285830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35921	39285830	203913543	2387	12704											
CDKL4	344387	broad.mit.edu	37	chr2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagcggaagtacctGttggcgtcttctgtttcttc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000395035.3	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000378803.1_Nonsense_Mutation_p.Q309*			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(925-927)Cag>Tag		cyclin-dependent kinase-like 4							116	113	114					2																	39406330		2203	4300	6503	SO:0001587	stop_gained	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406330G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.925C>T	2.37:g.39406330G>A	ENSP00000378476:p.Gln309*					CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q309*	p.Q309*	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			8	924	-		all_hematologic(82;0.248)	309					Q2NME9	Nonsense_Mutation	SNP	ENST00000395035.3	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	13.77	2.337558	0.41398	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	5.43	5.43	0.79202	.	0.411149	0.20810	N	0.085268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6979	14.7501	0.69519	0.0:0.0:1.0:0.0	.	.	.	.	X	91;309;309	.	ENSP00000368080:Q309X	Q	-	1	0	CDKL4	39259834	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.229000	0.58625	2.560000	0.86352	0.655000	0.94253	CAG		0.393	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		48	624	0	0	0	1	0	48	624					A	39406330	G	A	39406330	4	1	79	1	0	0	0	0	0	1	0	0	3165	1386	48	2	26	2	CDKL4	2	39406330	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120500	39406330	203793043	2388	12705											
CDKL4	344387	broad.mit.edu	37	chr2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgtttgccataataCgcttttgatcactccatcag	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(316-318)Gta>Ata		cyclin-dependent kinase-like 4							80	88	85					2																	39440588		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440588C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.316G>A	2.37:g.39440588C>T	ENSP00000378476:p.Val106Ile					CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	315	-		all_hematologic(82;0.248)	106			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.316G>A		.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA		0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		29	401	0	0	0	1	0	29	401					T	39440588	C	T	39440588	3	4	79	1	0	0	0	0	1	0	0	0	3165	536	19	1	655	1	CDKL4	2	39440588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34258	39440588	203758785	2389	12706											
MAP4K3	8491	broad.mit.edu	37	chr2	39494335	39494335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagtttacttaccaacaCaacacttctggcaccatttg	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39494335C>T	ENST00000263881.3	-	27	2351	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	676	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTACCAACACAACACTTCTG	0.383																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2026-2028)tGt>tAt		mitogen-activated protein kinase kinase kinase kinase 3							141	140	141					2																	39494335		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39494335C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2027G>A	2.37:g.39494335C>T	ENSP00000263881:p.Cys676Tyr					MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y	p.C676Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			27	2351	-		all_hematologic(82;0.211)	676			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2027G>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332204	0.81801	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.42	5.42	0.78866	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	T	0.02553	-1.1142	10	0.66056	D	0.02	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	655;676	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	676;592;655;229	ENSP00000263881:C676Y;ENSP00000416958:C592Y;ENSP00000345434:C655Y;ENSP00000440580:C229Y	ENSP00000263881:C676Y	C	-	2	0	MAP4K3	39347839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	2.691000	0.91804	0.655000	0.94253	TGT		0.383	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		13	515	0	0	0	1	0	13	515					T	39494335	C	T	39494335	3	4	79	1	0	0	0	0	1	0	0	0	9302	478	17	2	689	2	MAP4K3	2	39494335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53747	39494335	203705038	2390	12707											
MAP4K3	8491	broad.mit.edu	37	chr2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcataataatttcttgCtgcacaactgcaaagtcttc	4	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATTTCTTGCTGCACAACTG	0.303																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(175-177)caG>caT		mitogen-activated protein kinase kinase kinase kinase 3							170	181	177					2																	39583458		2203	4298	6501	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39583458C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.177G>T	2.37:g.39583458C>A	ENSP00000263881:p.Gln59His					MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H	p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			3	501	-		all_hematologic(82;0.211)	59			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.177G>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398983	0.83120	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.66460	-0.21;-0.21	5.48	4.59	0.56863	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	0.70456	0.3226	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.922;0.707	P;P	0.54924	0.764;0.655	T	0.68792	-0.5315	9	.	.	.	.	12.6098	0.56544	0.0:0.9184:0.0:0.0816	.	59;59	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	59	ENSP00000263881:Q59H;ENSP00000345434:Q59H	.	Q	-	3	2	MAP4K3	39436962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.236000	0.58675	2.563000	0.86464	0.561000	0.74099	CAG		0.303	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		90	496	1	0	3.05217e-42	1	3.71447e-42	90	496					A	39583458	C	A	39583458	3	1	79	1	0	0	0	0	1	0	0	0	9302	796	28	3	2635	3	MAP4K3	2	39583458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89123	39583458	203615915	2391	12708											
SLC8A1	6546	broad.mit.edu	37	chr2	40655686	40655686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacctctggcagtccCttcgatggttttatatggaa	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000403092.1	-	2	1768	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000406785.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	579	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGGCAGTCCCTTCGATGGTT	0.428																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1735-1737)Ggg>Tgg		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						97	100	99					2																	40655686		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655686C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1735G>T	2.37:g.40655686C>A	ENSP00000384763:p.Gly579Trp					SLC8A1_ENST00000403092.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W	p.G579W			P32418	NAC1_HUMAN			2	1924	-			579			Calx-beta 2.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1735G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471845	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.87	5.87	0.94306	Na-Ca exchanger/integrin-beta4 (2);	0.042921	0.85682	D	0.000000	T	0.80879	0.4708	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.86691	0.1923	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	579;579;579;579;579	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	579	ENSP00000383886:G579W;ENSP00000440727:G579W;ENSP00000384763:G579W;ENSP00000385678:G579W;ENSP00000385188:G579W;ENSP00000385535:G579W;ENSP00000332931:G579W;ENSP00000384908:G579W;ENSP00000385811:G579W;ENSP00000443515:G579W	ENSP00000332931:G579W	G	-	1	0	SLC8A1	40509190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	GGG		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	497	1	0	7.48243e-07	1	7.73841e-07	10	497					A	40655686	C	A	40655686	3	1	79	1	0	0	0	0	1	0	0	0	14756	681	24	3	1334	3	SLC8A1	2	40655686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1072228	40655686	202543687	2392	12709											
EML4	27436	broad.mit.edu	37	chr2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctacaaccccacGtcagagtgtgggattctgtt	10	12	3	1	rs146370925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	343					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438			T	ALK	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18978	0.0		0.0	False		,,,				2504	0.0					ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1027-1029)Gtc>Atc		echinoderm microtubule associated protein like 4		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	159	135	143		853,1027	4.9	1	2	dbSNP_134	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	EML4	NM_001145076.1,NM_019063.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	285/924,343/982	42513424	2,13004	2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42513424G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1027G>A	2.37:g.42513424G>A	ENSP00000320663:p.Val343Ile					EML4_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	p.V343I	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			10	1289	+			343					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1027G>A	CCDS1807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.851680	0.91355	0.0	2.33E-4	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.975;0.764;0.999	B;B;D	0.77557	0.353;0.391;0.99	T	0.53648	-0.8409	10	0.14252	T	0.57	-11.591	18.5327	0.90999	0.0:0.0:1.0:0.0	.	285;354;343	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	I	343;285;354	ENSP00000320663:V343I;ENSP00000385059:V285I;ENSP00000384939:V354I	ENSP00000320663:V343I	V	+	1	0	EML4	42366928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.438000	0.82558	0.650000	0.86243	GTC		0.438	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		94	261	0	0	0	1	0	94	261					A	42513424	G	A	42513424	3	1	79	1	0	0	0	0	1	0	0	0	5117	1145	40	1	1065	1	EML4	2	42513424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1857738	42513424	200685949	2393	12710											
KCNG3	170850	broad.mit.edu	37	chr2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcccagcacgcccggctCgtcggccgagtagaaggtgt	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	131					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(391-393)Gag>Aag		potassium voltage-gated channel, subfamily G, member 3							5	6	6					2																	42720251		1757	3694	5451	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720251C>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.391G>A	2.37:g.42720251C>T	ENSP00000304127:p.Glu131Lys					KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K	p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	986	-			131					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.391G>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929283	0.52759	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97553	-4.32;-4.43	3.95	3.95	0.45737	.	0.481267	0.20652	N	0.088195	D	0.92368	0.7578	L	0.42245	1.32	0.53688	D	0.999971	P;P	0.40398	0.716;0.628	B;B	0.25759	0.041;0.063	D	0.91555	0.5260	10	0.42905	T	0.14	.	9.9485	0.41626	0.0:0.9055:0.0:0.0945	.	131;131	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	K	131	ENSP00000304127:E131K;ENSP00000378424:E131K	ENSP00000304127:E131K	E	-	1	0	KCNG3	42573755	0.999000	0.42202	0.830000	0.32933	0.594000	0.36715	4.229000	0.58625	2.024000	0.59613	0.462000	0.41574	GAG		0.736	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		16	77	0	0	0	1	0	16	77					T	42720251	C	T	42720251	3	4	79	1	0	0	0	0	1	0	0	0	8059	893	31	1	927	1	KCNG3	2	42720251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206827	42720251	200479122	2394	12711											
KCNG3	170850	broad.mit.edu	37	chr2	42720563	42720563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgggaagtccttcaGcagctcccgggacagcgaat	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	ENST00000306078.1	-	1	674	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	27					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AAGTCCTTCAGCAGCTCCCGG	0.726																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(79-81)Ctg>Atg		potassium voltage-gated channel, subfamily G, member 3							10	11	10					2																	42720563		2136	4192	6328	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720563G>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.79C>A	2.37:g.42720563G>T	ENSP00000304127:p.Leu27Met					KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M	p.L27M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	674	-			27					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.79C>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268667	0.40095	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.69561	-0.41;-0.41	3.31	1.22	0.21188	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.355130	0.27730	N	0.018099	T	0.59878	0.2226	M	0.76727	2.345	0.28499	N	0.914113	B;B	0.30763	0.294;0.115	B;B	0.29942	0.109;0.046	T	0.59343	-0.7472	10	0.87932	D	0	.	4.8286	0.13428	0.2219:0.0:0.6048:0.1734	.	27;27	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	M	27	ENSP00000304127:L27M;ENSP00000378424:L27M	ENSP00000304127:L27M	L	-	1	2	KCNG3	42574067	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	1.124000	0.31320	0.583000	0.29574	0.462000	0.41574	CTG		0.726	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		19	40	1	0	3.51602e-12	1	3.76992e-12	19	40					T	42720563	G	T	42720563	3	4	79	1	0	0	0	0	1	0	0	0	8059	962	34	3	1239	3	KCNG3	2	42720563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	42720563	200478810	2395	12712											
HAAO	23498	broad.mit.edu	37	chr2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcttcaccctcttcgAtgtgatagtccttcctggtg	7	14	3	1	rs200729980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACCCTCTTCGATGTGATAGTC	0.597													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21701	0.0		0.0	False		,,,				2504	0.0					ENST00000294973.6																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(142-144)aTc>aAc		3-hydroxyanthranilate 3,4-dioxygenase							252	179	203					2																	43015685		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:43015685A>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.143T>A	2.37:g.43015685A>T	ENSP00000294973:p.Ile48Asn						p.I48N	NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN			2	198	-			48			Domain A (catalytic) (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.143T>A	CCDS33187.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	21.6	4.174278	0.78452	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	Cupin, RmlC-type (1);	0.068157	0.56097	D	0.000034	T	0.66406	0.2786	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	.	48	P46952	3HAO_HUMAN	N	48;14	ENSP00000294973:I48N;ENSP00000412601:I14N	ENSP00000294973:I48N	I	-	2	0	HAAO	42869189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.065000	0.61736	0.533000	0.62120	ATC		0.597	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			13	439	0	0	0	1	0	13	439					T	43015685	A	T	43015685	3	4	79	1	0	0	0	0	1	0	0	0	6967	333	12	5	753	5	HAAO	2	43015685	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295122	43015685	200183688	2396	12713											
ZFP36L2	678	broad.mit.edu	37	chr2	43451467	43451467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcttgcctcagtcgtcGgagatggagaggcggctgaa	15	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	492					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1474-1476)tcC>tcT		ZFP36 ring finger protein-like 2							8	10	10					2																	43451467		2162	4260	6422	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451467G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1476C>T	2.37:g.43451467G>A						THADA_ENST00000330266.7_Intron	p.S492S	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1769	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	492					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.1476C>T	CCDS1811.1																																																																																				0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		14	43	0	0	0	1	0	14	43					A	43451467	G	A	43451467	2	1	79	1	0	0	0	0	0	0	0	1	17700	1103	39	1		1	ZFP36L2	2	43451467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435782	43451467	199747906	2397	12714											
ZFP36L2	678	broad.mit.edu	37	chr2	43453409	43453409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctccctggcctaccttgcAcaagaagtcgacatcgtaga	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43453409A>G	ENST00000282388.3	-	1	339	c.46T>C	c.(46-48)Tgc>Cgc	p.C16R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	16					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTACCTTGCACAAGAAGTCG	0.662																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(46-48)Tgc>Cgc		ZFP36 ring finger protein-like 2							45	40	42					2																	43453409		2190	4291	6481	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43453409A>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.46T>C	2.37:g.43453409A>G	ENSP00000282388:p.Cys16Arg					THADA_ENST00000330266.7_Intron	p.C16R	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			1	339	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	16					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.46T>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857535	0.51376	.	.	ENSG00000152518	ENST00000282388	T	0.44881	0.91	5.28	5.28	0.74379	Tis11B-like protein, N-terminal (1);	0.082085	0.53938	D	0.000041	T	0.48572	0.1507	L	0.43152	1.355	0.80722	D	1	P	0.48998	0.918	P	0.52267	0.694	T	0.49725	-0.8909	10	0.59425	D	0.04	-9.141	14.8955	0.70642	1.0:0.0:0.0:0.0	.	16	P47974	TISD_HUMAN	R	16	ENSP00000282388:C16R	ENSP00000282388:C16R	C	-	1	0	ZFP36L2	43306913	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.274000	0.72587	1.998000	0.58463	0.533000	0.62120	TGC		0.662	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		4	37	0	0	0	1	0	4	37					G	43453409	A	G	43453409	3	3	79	1	0	0	0	0	1	0	0	0	17700	159	6	4	1446	4	ZFP36L2	2	43453409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	43453409	199745964	2398	12715											
THADA	63892	broad.mit.edu	37	chr2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgatctatcataacaAatgggaccaaggcacgagct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1373										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCATAACAAATGGGACCAA	0.473																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4117-4119)tTt>tGt		thyroid adenoma associated							135	137	136					2																	43625219		2018	4191	6209	SO:0001583	missense	63892						binding	g.chr2:43625219A>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4118T>G	2.37:g.43625219A>C	ENSP00000385995:p.Phe1373Cys					THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C	p.F1373C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			29	4469	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1373					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4118T>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944723|3.944723	0.73672|0.73672	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72455|0.72455	0.3462|0.3462	M|M	0.70275|0.70275	2.135|2.135	0.47994|0.47994	D|D	0.999564|0.999564	D;D;D;D|.	0.76494|.	0.996;0.999;0.987;0.964|.	P;D;P;P|.	0.64506|.	0.889;0.926;0.717;0.541|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.39692|.	T|.	0.17|.	.|.	14.0046|14.0046	0.64456|0.64456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1052;1300;1054;1373|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	C|V	1373;1300;1054;1373|613	ENSP00000386088:F1373C;ENSP00000416048:F1054C;ENSP00000385995:F1373C|.	ENSP00000349464:F1300C|.	F|L	-|-	2|1	0|2	THADA|THADA	43478723|43478723	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	5.562000|5.562000	0.67346|0.67346	1.943000|1.943000	0.56356|0.56356	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		133	396	0	0	0	1	0	133	396					C	43625219	A	C	43625219	3	2	79	1	0	0	0	0	1	0	0	0	15892	14	1	4	1783	4	THADA	2	43625219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171810	43625219	199574154	2399	12716											
THADA	63892	broad.mit.edu	37	chr2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctccaacaacataccaGcaccatctgcgcagttacat	4	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1050										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAACATACCAGCACCATCTGC	0.403																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(3148-3150)Ctg>Atg		thyroid adenoma associated							245	244	244					2																	43768414		2017	4188	6205	SO:0001583	missense	63892						binding	g.chr2:43768414G>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3148C>A	2.37:g.43768414G>T	ENSP00000385995:p.Leu1050Met					THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M	p.L1050M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			21	3499	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1050					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3148C>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763218|3.763218	0.69763|0.69763	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.72277	.|0.3440	M|M	0.62154|0.62154	1.92|1.92	0.51012|0.51012	D|D	0.999901|0.999901	.|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	.|T	.|0.73544	.|-0.3949	.|10	.|0.87932	.|D	.|0	.|.	19.7706|19.7706	0.96363|0.96363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|760;1051;760;1050	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	X|M	363|760;1050;1051;760;1050	.|ENSP00000331105:L760M;ENSP00000386088:L1050M;ENSP00000416048:L760M;ENSP00000385995:L1050M	.|ENSP00000331105:L760M	C|L	-|-	3|1	2|2	THADA|THADA	43621918|43621918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.992000|3.992000	0.56980|0.56980	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGC|CTG		0.403	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		148	971	1	0	2.36156e-58	1	2.96174e-58	148	971					T	43768414	G	T	43768414	3	4	79	1	0	0	0	0	1	0	0	0	15892	962	34	3	2785	3	THADA	2	43768414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143195	43768414	199430959	2400	12717											
THADA	63892	broad.mit.edu	37	chr2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctgaagaatctttaCcatgtactgtaagctttcag	8	7	3	3	rs369020610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000405006.4	-	11	2044	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000403856.1_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	565										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAATCTTTACCATGTACTGT	0.299																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1693-1695)Gta>Ata		thyroid adenoma associated		C	ILE/VAL,ILE/VAL	1,3611		0,1,1805	28	27	27		1693,1693	5.9	1	2		27	0,8146		0,0,4073	no	missense,missense	THADA	NM_001083953.1,NM_022065.4	29,29	0,1,5878	TT,TC,CC		0.0,0.0277,0.0085	benign,benign	565/1954,565/1954	43801511	1,11757	1806	4073	5879	SO:0001583	missense	63892						binding	g.chr2:43801511C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1693G>A	2.37:g.43801511C>T	ENSP00000385995:p.Val565Ile					THADA_ENST00000405006.4_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I	p.V565I			Q6YHU6	THADA_HUMAN			12	1840	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	565					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1693G>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870952	0.33069	2.77E-4	0.0	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	1.59;1.59;1.59;1.59;-0.1;-0.1;1.59	5.94	5.94	0.96194	Armadillo-type fold (1);	0.138436	0.48767	D	0.000176	T	0.44265	0.1285	L	0.39397	1.21	0.34512	D	0.707249	P;B;P;B;P	0.38020	0.597;0.319;0.566;0.431;0.615	B;B;B;B;B	0.33568	0.166;0.069;0.138;0.065;0.1	T	0.51888	-0.8648	10	0.12430	T	0.62	-0.738	5.7072	0.17915	0.1707:0.6832:0.0:0.1461	.	565;565;565;275;565	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	275;565;565;275;565;565;565;565	ENSP00000331105:V275I;ENSP00000386088:V565I;ENSP00000416048:V275I;ENSP00000385995:V565I;ENSP00000385441:V565I;ENSP00000384266:V565I;ENSP00000385469:V565I	ENSP00000331105:V275I	V	-	1	0	THADA	43655015	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.380000	0.52448	2.816000	0.96949	0.561000	0.74099	GTA		0.299	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		14	53	0	0	0	1	0	14	53					T	43801511	C	T	43801511	3	4	79	1	0	0	0	0	1	0	0	0	15892	507	18	2	4280	2	THADA	2	43801511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33097	43801511	199397862	2401	12718											
THADA	63892	broad.mit.edu	37	chr2	43805724	43805724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagctaatccagatgtgctCtgtacagtctgtaacagatc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000405006.4	-	9	1095	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000403856.1_Silent_p.Q248Q|THADA_ENST00000330266.7_5'Flank	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(742-744)caG>caA		thyroid adenoma associated							67	67	67					2																	43805724		1835	4094	5929	SO:0001819	synonymous_variant	63892						binding	g.chr2:43805724C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.744G>A	2.37:g.43805724C>T						THADA_ENST00000405006.4_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR	p.Q248Q			Q6YHU6	THADA_HUMAN			10	891	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	248					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.744G>A	CCDS46268.1																																																																																				0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		45	174	0	0	0	1	0	45	174					T	43805724	C	T	43805724	2	4	79	1	0	0	0	0	0	0	0	1	15892	912	32	2		2	THADA	2	43805724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4213	43805724	199393649	2402	12719											
THADA	63892	broad.mit.edu	37	chr2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcaattcttcctgaagaCgagaagtaaaacggtgcata	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000405006.4	-	5	713	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000403856.1_Missense_Mutation_p.R121H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	121										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTGAAGACGAGAAGTAAA	0.348																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(361-363)cGt>cAt		thyroid adenoma associated							61	59	60					2																	43814082		1818	4061	5879	SO:0001583	missense	63892						binding	g.chr2:43814082C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.362G>A	2.37:g.43814082C>T	ENSP00000385995:p.Arg121His					THADA_ENST00000405006.4_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR	p.R121H			Q6YHU6	THADA_HUMAN			6	509	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	121					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.362G>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107737	0.37242	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64803	2.95;2.95;-0.12;-0.12;1.5	4.62	3.68	0.42216	.	0.172595	0.50627	N	0.000101	T	0.44644	0.1303	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.15473	0.013;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.34782	T	0.22	-7.7899	9.4071	0.38469	0.0:0.8861:0.0:0.1139	.	121;121;121;121	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	H	121	ENSP00000386088:R121H;ENSP00000385995:R121H;ENSP00000385441:R121H;ENSP00000384266:R121H;ENSP00000385469:R121H	ENSP00000349464:R121H	R	-	2	0	THADA	43667586	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.857000	0.39399	1.164000	0.42652	0.655000	0.94253	CGT		0.348	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		22	155	0	0	0	1	0	22	155					T	43814082	C	T	43814082	3	4	79	1	0	0	0	0	1	0	0	0	15892	536	19	1	5635	1	THADA	2	43814082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8358	43814082	199385291	2403	12720											
PLEKHH2	130271	broad.mit.edu	37	chr2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataagaacaatgcagtcaAaactacaaggtacaaatact	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	165					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(493-495)Aaa>Gaa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							49	48	48					2																	43922354		2198	4295	6493	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43922354A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.493A>G	2.37:g.43922354A>G	ENSP00000282406:p.Lys165Glu						p.K165E	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			6	603	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	165					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.493A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863972	0.71949	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.58	5.58	0.84498	.	0.109197	0.64402	D	0.000007	T	0.57242	0.2040	L	0.43152	1.355	0.40111	D	0.976488	P;P	0.47034	0.524;0.889	B;P	0.51170	0.095;0.661	T	0.59418	-0.7458	10	0.48119	T	0.1	-20.5962	15.7573	0.78043	1.0:0.0:0.0:0.0	.	165;165	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	E	165	ENSP00000282406:K165E	ENSP00000282406:K165E	K	+	1	0	PLEKHH2	43775858	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	5.168000	0.64978	2.120000	0.65058	0.477000	0.44152	AAA		0.308	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		19	47	0	0	0	1	0	19	47					G	43922354	A	G	43922354	3	3	79	1	0	0	0	0	1	0	0	0	12119	15	1	4	511	4	PLEKHH2	2	43922354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108272	43922354	199277019	2404	12721											
PLEKHH2	130271	broad.mit.edu	37	chr2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcatccactgtctctacaCtaaagctttcggaaggccag	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	180					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(538-540)Cta>Ata		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							135	137	137					2																	43924345		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924345C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.538C>A	2.37:g.43924345C>A	ENSP00000282406:p.Leu180Ile						p.L180I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			7	648	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	180					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.538C>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247779	0.10130	.	.	ENSG00000152527	ENST00000282406	T	0.52057	0.68	5.04	1.11	0.20524	.	0.772541	0.12600	N	0.454790	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.18871	0.0;0.023	T	0.22521	-1.0214	10	0.18276	T	0.48	0.731	4.2415	0.10650	0.1307:0.6025:0.1261:0.1407	.	180;180	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	180	ENSP00000282406:L180I	ENSP00000282406:L180I	L	+	1	2	PLEKHH2	43777849	0.034000	0.19679	0.001000	0.08648	0.697000	0.40408	2.367000	0.44213	-0.083000	0.12618	-0.312000	0.09012	CTA		0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		64	640	1	0	2.73218e-42	1	3.32585e-42	64	640					A	43924345	C	A	43924345	3	1	79	1	0	0	0	0	1	0	0	0	12119	564	20	3	560	3	PLEKHH2	2	43924345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1991	43924345	199275028	2405	12722											
PLEKHH2	130271	broad.mit.edu	37	chr2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgaccactgaaaaacacAcatactatctgactgcagat	6	10	1	4	rs577718828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	774	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383													A|||	2	0.000399361	0.0	0.0	5008	,	,		20997	0.0		0.0	False		,,,				2504	0.002					ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2320-2322)Aca>Gca		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							158	148	151					2																	43939382		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939382A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2320A>G	2.37:g.43939382A>G	ENSP00000282406:p.Thr774Ala						p.T774A	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			15	2430	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	774			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2320A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897967	0.72639	.	.	ENSG00000152527	ENST00000282406	T	0.15017	2.46	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110415	0.64402	D	0.000007	T	0.34687	0.0906	M	0.83692	2.655	0.44201	D	0.997028	P;B	0.46327	0.876;0.4	P;B	0.49252	0.604;0.173	T	0.28554	-1.0040	10	0.56958	D	0.05	-20.575	14.981	0.71311	1.0:0.0:0.0:0.0	.	774;211	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	A	774	ENSP00000282406:T774A	ENSP00000282406:T774A	T	+	1	0	PLEKHH2	43792886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	1.935000	0.56089	0.377000	0.23210	ACA		0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		97	492	0	0	0	1	0	97	492					G	43939382	A	G	43939382	3	3	79	1	0	0	0	0	1	0	0	0	12119	159	6	4	2374	4	PLEKHH2	2	43939382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15037	43939382	199259991	2406	12723											
PLEKHH2	130271	broad.mit.edu	37	chr2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccacacattatactatcGttatccatcccaaagaccaa	2	13	0	1	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	888	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2662-2664)Gtt>Att		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2		G	ILE/VAL	0,4406		0,0,2203	115	109	111		2662	4.7	0	2	dbSNP_134	111	2,8598	1.2+/-3.3	0,2,4298	no	missense	PLEKHH2	NM_172069.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	888/1494	43953531	2,13004	2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43953531G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2662G>A	2.37:g.43953531G>A	ENSP00000282406:p.Val888Ile						p.V888I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			17	2772	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	888			PH 2.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2662G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764779	0.31228	0.0	2.33E-4	ENSG00000152527	ENST00000282406	T	0.22539	1.95	5.57	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.253763	0.38959	N	0.001506	T	0.22551	0.0544	L	0.53617	1.68	0.21802	N	0.99954	B;B	0.19935	0.04;0.017	B;B	0.20184	0.028;0.004	T	0.11817	-1.0572	10	0.38643	T	0.18	-6.5994	13.539	0.61662	0.0757:0.0:0.9243:0.0	.	888;325	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	I	888	ENSP00000282406:V888I	ENSP00000282406:V888I	V	+	1	0	PLEKHH2	43807035	0.998000	0.40836	0.020000	0.16555	0.472000	0.32918	4.963000	0.63694	1.307000	0.44944	0.650000	0.86243	GTT		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		68	290	0	0	0	1	0	68	290					A	43953531	G	A	43953531	3	1	79	1	0	0	0	0	1	0	0	0	12119	1145	40	1	2724	1	PLEKHH2	2	43953531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14149	43953531	199245842	2407	12724											
PLEKHH2	130271	broad.mit.edu	37	chr2	43965632	43965632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagacaagacgaagacaGccacagaatcaaccaggacc	8	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1032	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3094-3096)caG>caA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							80	84	83					2																	43965632		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43965632G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3096G>A	2.37:g.43965632G>A							p.Q1032Q	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			20	3206	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1032			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.3096G>A	CCDS1812.1																																																																																				0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		131	333	0	0	0	1	0	131	333					A	43965632	G	A	43965632	2	1	79	1	0	0	0	0	0	0	0	1	12119	962	34	2		2	PLEKHH2	2	43965632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12101	43965632	199233741	2408	12725											
PLEKHH2	130271	broad.mit.edu	37	chr2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgccctttagtatacCtgtgcacttcatgaatggga	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1124	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGTATACCTGTGCACTTC	0.413																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3370-3372)cCt>cTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							163	147	152					2																	43970029		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43970029C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3371C>T	2.37:g.43970029C>T	ENSP00000282406:p.Pro1124Leu						p.P1124L	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			22	3481	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1124			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3371C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805841	0.90623	.	.	ENSG00000152527	ENST00000282406	T	0.74526	-0.85	5.3	5.3	0.74995	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89272	0.3605	10	0.72032	D	0.01	-20.4487	18.9515	0.92643	0.0:1.0:0.0:0.0	.	1124	Q8IVE3	PKHH2_HUMAN	L	1124	ENSP00000282406:P1124L	ENSP00000282406:P1124L	P	+	2	0	PLEKHH2	43823533	1.000000	0.71417	0.872000	0.34217	0.872000	0.50106	7.487000	0.81328	2.459000	0.83118	0.563000	0.77884	CCT		0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		14	424	0	0	0	1	0	14	424					T	43970029	C	T	43970029	3	4	79	1	0	0	0	0	1	0	0	0	12119	681	24	2	3453	2	PLEKHH2	2	43970029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4397	43970029	199229344	2409	12726											
PLEKHH2	130271	broad.mit.edu	37	chr2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtacaaggactgttcGtctgacatacaaaaacaggt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3634-3636)cGt>cAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							70	64	66					2																	43973084		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43973084G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3635G>A	2.37:g.43973084G>A	ENSP00000282406:p.Arg1212His						p.R1212H	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			24	3745	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1212			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3635G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102805	0.76983	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.052470	0.85682	D	0.000000	T	0.74107	0.3673	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.75345	-0.3350	10	0.66056	D	0.02	-19.9695	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1212	Q8IVE3	PKHH2_HUMAN	H	1212	ENSP00000282406:R1212H	ENSP00000282406:R1212H	R	+	2	0	PLEKHH2	43826588	1.000000	0.71417	0.933000	0.37362	0.688000	0.40055	5.197000	0.65141	2.716000	0.92895	0.557000	0.71058	CGT		0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		34	137	0	0	0	1	0	34	137					A	43973084	G	A	43973084	3	1	79	1	0	0	0	0	1	0	0	0	12119	1145	40	1	3725	1	PLEKHH2	2	43973084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3055	43973084	199226289	2410	12727											
ABCG5	64240	broad.mit.edu	37	chr2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcattctttcaatatTcttcaaagttttatgacaaa	4	6	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000260645.1	-	8	1160	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Missense_Mutation_p.N170Y	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	341					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|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)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTTTCAATATTCTTCAAAGTT	0.388																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(508-510)Aat>Tat		ATP-binding cassette, sub-family G (WHITE), member 5							122	130	127					2																	44051455		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051455T>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1021A>T	2.37:g.44051455T>A	ENSP00000260645:p.Asn341Tyr					ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.N341Y	p.N170Y			Q9H222	ABCG5_HUMAN			5	1404	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	341			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.508A>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646928	0.47258	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;T	0.90563	-2.69;-1.3	5.61	3.28	0.37604	.	3.690330	0.00597	N	0.000373	D	0.85492	0.5709	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.845	B;B	0.42062	0.374;0.36	T	0.73107	-0.4087	10	0.62326	D	0.03	.	8.2634	0.31799	0.0:0.2363:0.0:0.7637	.	170;341	E7EX35;Q9H222	.;ABCG5_HUMAN	Y	341;170	ENSP00000260645:N341Y;ENSP00000384513:N170Y	ENSP00000260645:N341Y	N	-	1	0	ABCG5	43904959	0.060000	0.20803	0.738000	0.30950	0.601000	0.36947	0.565000	0.23578	0.520000	0.28426	0.533000	0.62120	AAT		0.388	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		153	697	0	0	0	1	0	153	697					A	44051455	T	A	44051455	3	1	79	1	0	0	0	0	1	0	0	0	71	1783	62	5	958	5	ABCG5	2	44051455	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78371	44051455	199147918	2411	12728											
LRPPRC	10128	broad.mit.edu	37	chr2	44121724	44121724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgcttcttccttttcAtttaattcaggaatcaattc	4	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1315	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTTTTCATTTAATTCAG	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3943-3945)aaT>aaC		leucine-rich pentatricopeptide repeat containing							70	75	73					2																	44121724		2202	4282	6484	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121724A>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3945T>C	2.37:g.44121724A>G							p.N1315N	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	4002	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1315			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.3945T>C	CCDS33189.1																																																																																				0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		44	294	0	0	0	1	0	44	294					G	44121724	A	G	44121724	2	3	79	1	0	0	0	0	0	0	0	1	9003	214	8	4		4	LRPPRC	2	44121724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70269	44121724	199077649	2412	12729											
LRPPRC	10128	broad.mit.edu	37	chr2	44132886	44132886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggctgttggcagcatcGttcagtgtgaagcccttgat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1103					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCAGCATCGTTCAGTGTGA	0.443																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3307-3309)aaC>aaT		leucine-rich pentatricopeptide repeat containing							139	117	125					2																	44132886		2203	4300	6503	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44132886G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3309C>T	2.37:g.44132886G>A							p.N1103N	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			31	3366	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1103					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.3309C>T	CCDS33189.1																																																																																				0.443	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		112	221	0	0	0	1	0	112	221					A	44132886	G	A	44132886	2	1	79	1	0	0	0	0	0	0	0	1	9003	1136	40	1		1	LRPPRC	2	44132886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11162	44132886	199066487	2413	12730											
SLC3A1	6519	broad.mit.edu	37	chr2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgccagacaaacaacgGgtttgtccataatgaagaca	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000260649.6	+	1	144	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	23					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(67-69)gGg>gTg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						64	62	63					2																	44502742		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502742G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.68G>T	2.37:g.44502742G>T	ENSP00000260649:p.Gly23Val					SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V	p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	144	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	23					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.68G>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078546	0.55753	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99719	-5.95;-6.52;-6.03;-6.41;-6.51	5.39	5.39	0.77823	.	0.114768	0.64402	D	0.000014	D	0.99658	0.9873	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97981	1.0349	10	0.87932	D	0	-20.3066	19.1557	0.93509	0.0:0.0:1.0:0.0	.	23;23;23;23;23	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	23	ENSP00000260649:G23V;ENSP00000387308:G23V;ENSP00000387337:G23V;ENSP00000386954:G23V;ENSP00000386620:G23V	ENSP00000260649:G23V	G	+	2	0	SLC3A1	44356246	1.000000	0.71417	0.967000	0.41034	0.147000	0.21601	5.153000	0.64888	2.517000	0.84864	0.462000	0.41574	GGG		0.517	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		30	122	1	0	2.68265e-12	1	2.87809e-12	30	122					T	44502742	G	T	44502742	3	4	79	1	0	0	0	0	1	0	0	0	14676	1232	43	3	70	3	SLC3A1	2	44502742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369856	44502742	198696631	2414	12731											
SLC3A1	6519	broad.mit.edu	37	chr2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggtttaaaattaatcatcGatttcataccaaaccacacg	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000260649.6	+	3	704	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	210					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(628-630)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						77	75	76					2																	44508543		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44508543G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.628G>A	2.37:g.44508543G>A	ENSP00000260649:p.Asp210Asn					SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N	p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			3	704	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	210					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.628G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907315	0.72868	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99960	-9.19;-9.19;-7.36;-9.19;-9.19	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054621	0.64402	N	0.000001	D	0.99971	0.9990	H	0.98701	4.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998	D	0.96864	0.9634	10	0.62326	D	0.03	-12.8222	17.147	0.86768	0.0:0.0:1.0:0.0	.	210;210;210;210;210	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	210;210;146;210;210;210;210	ENSP00000260649:D210N;ENSP00000387308:D210N;ENSP00000387337:D210N;ENSP00000386954:D210N;ENSP00000386620:D210N	ENSP00000260649:D210N	D	+	1	0	SLC3A1	44362047	1.000000	0.71417	0.952000	0.39060	0.467000	0.32768	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	GAT		0.348	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		65	236	0	0	0	1	0	65	236					A	44508543	G	A	44508543	3	1	79	1	0	0	0	0	1	0	0	0	14676	1058	37	1	638	1	SLC3A1	2	44508543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5801	44508543	198690830	2415	12732											
SLC3A1	6519	broad.mit.edu	37	chr2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatgctttgtttccaatcGagcatgctattccagtgtac	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000260649.6	+	10	2088	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	671					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(2011-2013)cGa>cAa		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						87	73	78					2																	44547732		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547732G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2012G>A	2.37:g.44547732G>A	ENSP00000260649:p.Arg671Gln					PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q	p.R671Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			10	2088	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	671					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.2012G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347062	0.82022	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99129	-5.46;-4.86;-4.55	5.99	0.529	0.17095	.	0.164236	0.52532	N	0.000062	D	0.96772	0.8946	M	0.68317	2.08	0.58432	D	0.999999	P	0.50066	0.931	B	0.36378	0.223	D	0.93093	0.6501	10	0.66056	D	0.02	-4.4218	8.1944	0.31387	0.6839:0.0:0.3161:0.0	.	671	Q07837	SLC31_HUMAN	Q	671;607;393;302	ENSP00000260649:R671Q;ENSP00000386709:R393Q;ENSP00000386677:R302Q	ENSP00000260649:R671Q	R	+	2	0	SLC3A1	44401236	1.000000	0.71417	0.010000	0.14722	0.823000	0.46562	3.321000	0.51999	0.146000	0.19002	-0.768000	0.03414	CGA		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		41	271	0	0	0	1	0	41	271					A	44547732	G	A	44547732	3	1	79	1	0	0	0	0	1	0	0	0	14676	1058	37	1	2050	1	SLC3A1	2	44547732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39189	44547732	198651641	2416	12733											
C2orf34	79823	broad.mit.edu	37	chr2	44617401	44617401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatagtggatccttgaaTgttgaagatgtccttaccag	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44617401T>C	ENST00000378494.3	+	3	377	c.333T>C	c.(331-333)aaT>aaC	p.N111N	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000402247.1_Silent_p.N111N|CAMKMT_ENST00000403853.3_Silent_p.N111N|CAMKMT_ENST00000407131.1_Silent_p.N111N	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	111						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GATCCTTGAATGTTGAAGATG	0.303																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(331-333)aaT>aaC		calmodulin-lysine N-methyltransferase							91	92	92					2																	44617401		2203	4295	6498	SO:0001819	synonymous_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44617401T>C		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.333T>C	2.37:g.44617401T>C						CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Silent_p.N111N|CAMKMT_ENST00000402247.1_Silent_p.N111N|CAMKMT_ENST00000403853.3_Silent_p.N111N	p.N111N	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			3	377	+			111					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Silent	SNP	ENST00000378494.3	37	c.333T>C	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	9.256	1.042061	0.19748	.	.	ENSG00000143919	ENST00000428929	.	.	.	5.71	3.39	0.38822	.	.	.	.	.	T	0.56834	0.2012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-9.2264	7.9724	0.30134	0.0:0.1593:0.0:0.8407	.	.	.	.	R	57	.	.	C	+	1	0	CAMKMT	44470905	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.498000	0.35660	1.006000	0.39211	0.533000	0.62120	TGT		0.303	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		80	280	0	0	0	1	0	80	280					C	44617401	T	C	44617401	2	2	79	1	0	0	0	0	0	0	0	1	2170	1461	51	4		4	C2orf34	2	44617401	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69669	44617401	198581972	2417	12734											
SIX3	6496	broad.mit.edu	37	chr2	45169609	45169609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggcccccggggcgtgCgaggccatcaacaaacacga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169609C>T	ENST00000260653.3	+	1	708	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	122					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(364-366)tgC>tgT		SIX homeobox 3							11	14	13					2																	45169609		2027	4066	6093	SO:0001819	synonymous_variant	6496				visual perception	nucleus		g.chr2:45169609C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.366C>T	2.37:g.45169609C>T							p.C122C	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	708	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	122					D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	c.366C>T	CCDS1821.1																																																																																				0.682	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		6	182	0	0	0	1	0	6	182					T	45169609	C	T	45169609	2	4	79	1	0	0	0	0	0	0	0	1	14398	776	27	1		1	SIX3	2	45169609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552208	45169609	198029764	2418	12735											
SIX3	6496	broad.mit.edu	37	chr2	45169644	45169644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgagtcgatcctgcgcgCgcgcgccgtggtcgccttcc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169644C>T	ENST00000260653.3	+	1	743	c.401C>T	c.(400-402)gCg>gTg	p.A134V	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	134					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCCTGCGCGCGCGCGCCGTG	0.667																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(400-402)gCg>gTg		SIX homeobox 3							12	15	14					2																	45169644		2072	4118	6190	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169644C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.401C>T	2.37:g.45169644C>T	ENSP00000260653:p.Ala134Val						p.A134V	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	743	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	134					D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.401C>T	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548820	0.65311	.	.	ENSG00000138083	ENST00000260653	D	0.97209	-4.29	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	D	0.98061	0.9361	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	D	0.98487	1.0608	10	0.62326	D	0.03	.	13.7481	0.62887	0.0:1.0:0.0:0.0	.	134	O95343	SIX3_HUMAN	V	134	ENSP00000260653:A134V	ENSP00000260653:A134V	A	+	2	0	SIX3	45023148	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.354000	0.79424	1.509000	0.48786	0.484000	0.47621	GCG		0.667	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		7	168	0	0	0	1	0	7	168					T	45169644	C	T	45169644	3	4	79	1	0	0	0	0	1	0	0	0	14398	768	27	1	403	1	SIX3	2	45169644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	45169644	198029729	2419	12736											
SRBD1	55133	broad.mit.edu	37	chr2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaggattttgggcccaGccctttcactttcttcagct	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	754					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTGGGCCCAGCCCTTTCACT	0.423																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2260-2262)Ctg>Atg		S1 RNA binding domain 1							264	172	203					2																	45645577		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45645577G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2260C>A	2.37:g.45645577G>T	ENSP00000263736:p.Leu754Met					SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M|SRBD1_ENST00000490133.1_5'UTR	p.L754M	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		18	2322	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	754					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2260C>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337017	0.60963	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.36340	1.57;1.26	5.96	5.08	0.68730	Tex RuvX-like domain (1);	0.200635	0.42964	N	0.000623	T	0.46776	0.1410	L	0.49699	1.58	0.40511	D	0.98073	D	0.53312	0.959	P	0.56960	0.81	T	0.50224	-0.8853	10	0.87932	D	0	.	10.3659	0.44024	0.0739:0.0:0.7898:0.1363	.	754	Q8N5C6	SRBD1_HUMAN	M	754;273	ENSP00000263736:L754M;ENSP00000441272:L273M	ENSP00000263736:L754M	L	-	1	2	SRBD1	45499081	1.000000	0.71417	0.807000	0.32361	0.798000	0.45092	2.663000	0.46774	1.520000	0.48965	-0.195000	0.12781	CTG		0.423	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		179	455	1	0	5.15675e-95	1	6.62639e-95	179	455					T	45645577	G	T	45645577	3	4	79	1	0	0	0	0	1	0	0	0	15185	962	34	3	743	3	SRBD1	2	45645577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	475933	45645577	197553796	2420	12737											
SRBD1	55133	broad.mit.edu	37	chr2	45715393	45715393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgcacttctcaaaTtagggtccagccctggcatc	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45715393T>G	ENST00000263736.4	-	15	2014	c.1952A>C	c.(1951-1953)aAt>aCt	p.N651T	SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	651					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTTCTCAAATTAGGGTCCAG	0.413																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1951-1953)aAt>aCt		S1 RNA binding domain 1							124	122	122					2																	45715393		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45715393T>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1952A>C	2.37:g.45715393T>G	ENSP00000263736:p.Asn651Thr					SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	p.N651T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		15	2014	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	651					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1952A>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950353	0.73787	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.28454	2.03;1.61	4.92	4.92	0.64577	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.03281	-0.365	0.47737	D	0.999508	D	0.76494	0.999	D	0.66602	0.945	T	0.35101	-0.9802	10	0.45353	T	0.12	.	12.1702	0.54155	0.0:0.0:0.0:1.0	.	651	Q8N5C6	SRBD1_HUMAN	T	651;170	ENSP00000263736:N651T;ENSP00000441272:N170T	ENSP00000263736:N651T	N	-	2	0	SRBD1	45568897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.617000	0.74210	2.074000	0.62210	0.482000	0.46254	AAT		0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		12	300	0	0	0	1	0	12	300					G	45715393	T	G	45715393	3	3	79	1	0	0	0	0	1	0	0	0	15185	1493	52	4	1063	4	SRBD1	2	45715393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69816	45715393	197483980	2421	12738											
PRKCE	5581	broad.mit.edu	37	chr2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagcaccgggcagcatcgtCtcctgatggccagctgatga	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000306156.3	+	9	1469	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	381					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GCAGCATCGTCTCCTGATGGC	0.542																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1141-1143)tCt>tTt		protein kinase C, epsilon							54	57	56					2																	46234679		1833	3846	5679	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46234679C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1142C>T	2.37:g.46234679C>T	ENSP00000306124:p.Ser381Phe					PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	p.S381F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		9	1469	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	381					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1142C>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901205	0.17760	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69926	-0.44;0.28	5.53	3.7	0.42460	.	0.437979	0.26518	N	0.023936	T	0.46073	0.1374	N	0.08118	0	0.24205	N	0.995496	B	0.32010	0.351	B	0.25506	0.061	T	0.38929	-0.9638	10	0.51188	T	0.08	.	16.0086	0.80380	0.0:0.7317:0.2683:0.0	.	381	Q02156	KPCE_HUMAN	F	381;104	ENSP00000306124:S381F;ENSP00000378341:S104F	ENSP00000306124:S381F	S	+	2	0	PRKCE	46088183	0.977000	0.34250	0.006000	0.13384	0.007000	0.05969	3.915000	0.56409	0.838000	0.34948	0.655000	0.94253	TCT		0.542	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			106	311	0	0	0	1	0	106	311					T	46234679	C	T	46234679	3	4	79	1	0	0	0	0	1	0	0	0	12558	913	32	2	1176	2	PRKCE	2	46234679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519286	46234679	196964694	2422	12739											
EPAS1	2034	broad.mit.edu	37	chr2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaacttcctattcaccaaGctaaaggaggagcccgagga	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	392					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1174-1176)aaG>aaT		endothelial PAS domain protein 1							88	93	91					2																	46603819		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603819G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1176G>T	2.37:g.46603819G>T	ENSP00000263734:p.Lys392Asn						p.K392N	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1686	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	392					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1176G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586851	0.46110	.	.	ENSG00000116016	ENST00000263734	T	0.53640	0.61	5.38	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.82193	2.58	0.49213	D	0.999769	B	0.21225	0.053	B	0.21917	0.037	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.7763	0.34765	0.3083:0.0:0.6917:0.0	.	392	Q99814	EPAS1_HUMAN	N	392	ENSP00000263734:K392N	ENSP00000263734:K392N	K	+	3	2	EPAS1	46457323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.883000	0.28200	0.628000	0.30357	0.462000	0.41574	AAG		0.562	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		106	772	1	0	5.12507e-49	1	6.33484e-49	106	772					T	46603819	G	T	46603819	3	4	79	1	0	0	0	0	1	0	0	0	5168	962	34	3	1210	3	EPAS1	2	46603819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369140	46603819	196595554	2423	12740											
EPAS1	2034	broad.mit.edu	37	chr2	46605085	46605085	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaggccatcctgcccccGagccagccatgggccacgga	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	ENST00000263734.3	+	10	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	434					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTGCCCCCGAGCCAGCCAT	0.662																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1300-1302)ccG>ccA		endothelial PAS domain protein 1							21	19	20					2																	46605085		2165	4263	6428	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605085G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1302G>A	2.37:g.46605085G>A							p.P434P	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		10	1812	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	434					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.1302G>A	CCDS1825.1																																																																																				0.662	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		8	18	0	0	0	1	0	8	18					A	46605085	G	A	46605085	2	1	79	1	0	0	0	0	0	0	0	1	5168	1045	37	1		1	EPAS1	2	46605085	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	46605085	196594288	2424	12741											
EPAS1	2034	broad.mit.edu	37	chr2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactattacacatctttggAtaacgacctgaagattgaag	8	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	493					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)gAt>gGt		endothelial PAS domain protein 1							141	133	136					2																	46605830		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605830A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1478A>G	2.37:g.46605830A>G	ENSP00000263734:p.Asp493Gly						p.D493G	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		11	1988	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	493					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1478A>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512374	0.27036	.	.	ENSG00000116016	ENST00000263734	T	0.52526	0.66	5.54	1.95	0.26073	.	0.700275	0.14954	N	0.288729	T	0.37461	0.1004	L	0.40543	1.245	0.43540	D	0.995834	B	0.09022	0.002	B	0.10450	0.005	T	0.21518	-1.0243	10	0.66056	D	0.02	.	8.9887	0.36010	0.7974:0.0:0.2026:0.0	.	493	Q99814	EPAS1_HUMAN	G	493	ENSP00000263734:D493G	ENSP00000263734:D493G	D	+	2	0	EPAS1	46459334	1.000000	0.71417	0.007000	0.13788	0.082000	0.17680	2.229000	0.42990	0.410000	0.25675	0.528000	0.53228	GAT		0.517	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		21	387	0	0	0	1	0	21	387					G	46605830	A	G	46605830	3	3	79	1	0	0	0	0	1	0	0	0	5168	333	12	4	1520	4	EPAS1	2	46605830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	745	46605830	196593543	2425	12742											
EPAS1	2034	broad.mit.edu	37	chr2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcacagagttcttgggaGcagcgccgttggggccccct	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	664					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1990-1992)Gca>Tca		endothelial PAS domain protein 1							74	85	81					2																	46607801		2197	4287	6484	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607801G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1990G>T	2.37:g.46607801G>T	ENSP00000263734:p.Ala664Ser						p.A664S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2500	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	664					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1990G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419044	0.04766	.	.	ENSG00000116016	ENST00000263734	T	0.44881	0.91	4.69	-2.69	0.06022	.	0.753997	0.11622	N	0.545664	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.02654	T	1	.	5.9118	0.19033	0.478:0.2604:0.2616:0.0	.	664	Q99814	EPAS1_HUMAN	S	664	ENSP00000263734:A664S	ENSP00000263734:A664S	A	+	1	0	EPAS1	46461305	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.243000	0.08915	-0.482000	0.06782	0.585000	0.79938	GCA		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		128	701	1	0	1.78676e-68	1	2.26603e-68	128	701					T	46607801	G	T	46607801	3	4	79	1	0	0	0	0	1	0	0	0	5168	971	34	3	2036	3	EPAS1	2	46607801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	46607801	196591572	2426	12743											
EPAS1	2034	broad.mit.edu	37	chr2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgggcttggcaggtctGcaaagggttttggggctcga	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2050-2052)Gca>Aca		endothelial PAS domain protein 1							48	49	49					2																	46608739		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608739G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2050G>A	2.37:g.46608739G>A	ENSP00000263734:p.Ala684Thr						p.A684T	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		13	2560	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	684					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2050G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396695	0.25205	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.19	4.31	0.51392	.	1.793810	0.02489	N	0.089240	T	0.27832	0.0685	N	0.08118	0	0.09310	N	0.999996	B	0.26258	0.145	B	0.21546	0.035	T	0.28933	-1.0028	10	0.22706	T	0.39	.	3.7445	0.08542	0.09:0.1778:0.5723:0.1599	.	684	Q99814	EPAS1_HUMAN	T	684	ENSP00000263734:A684T	ENSP00000263734:A684T	A	+	1	0	EPAS1	46462243	0.988000	0.35896	1.000000	0.80357	0.889000	0.51656	0.675000	0.25232	2.416000	0.81992	0.563000	0.77884	GCA		0.582	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		83	246	0	0	0	1	0	83	246					A	46608739	G	A	46608739	3	1	79	1	0	0	0	0	1	0	0	0	5168	1319	46	2	2100	2	EPAS1	2	46608739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	46608739	196590634	2427	12744											
EPAS1	2034	broad.mit.edu	37	chr2	46609140	46609140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggtggcagcacctcAcatttgatgtggaaacggat	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	733					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2197-2199)tcA>tcG		endothelial PAS domain protein 1							44	48	47					2																	46609140		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46609140A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2199A>G	2.37:g.46609140A>G							p.S733S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		14	2709	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	733					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.2199A>G	CCDS1825.1																																																																																				0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		58	178	0	0	0	1	0	58	178					G	46609140	A	G	46609140	2	3	79	1	0	0	0	0	0	0	0	1	5168	146	6	4		4	EPAS1	2	46609140	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	401	46609140	196590233	2428	12745											
SOCS5	9655	broad.mit.edu	37	chr2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggcttagagagagaaggCggcttagtattgaagaaggg	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	269					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAAGGCGGCTTAGTAT	0.408																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(805-807)Cgg>Tgg		suppressor of cytokine signaling 5							51	51	51					2																	46986474		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986474C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.805C>T	2.37:g.46986474C>T	ENSP00000305133:p.Arg269Trp					SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	977	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	269					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.805C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264813	0.40095	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.38401	1.14;1.14	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.66939	2.045	0.50467	D	0.999877	D	0.89917	1.0	D	0.81914	0.995	T	0.52351	-0.8587	10	0.72032	D	0.01	-11.791	7.3985	0.26950	0.4338:0.4875:0.0:0.0787	.	269	O75159	SOCS5_HUMAN	W	269	ENSP00000305133:R269W;ENSP00000378330:R269W	ENSP00000305133:R269W	R	+	1	2	SOCS5	46839978	0.995000	0.38212	0.795000	0.32087	0.936000	0.57629	3.253000	0.51469	0.824000	0.34613	0.655000	0.94253	CGG		0.408	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			15	341	0	0	0	1	0	15	341					T	46986474	C	T	46986474	3	4	79	1	0	0	0	0	1	0	0	0	14967	759	27	1	807	1	SOCS5	2	46986474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377334	46986474	196212899	2429	12746											
SOCS5	9655	broad.mit.edu	37	chr2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattataaagatcccagttCgtgcatgttttttgaaccat	6	8	0	2	rs149307689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																						ENST00000306503.5																			3	Substitution - Missense(3)	p.S464L(3)	large_intestine(2)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1390-1392)tCg>tTg		suppressor of cytokine signaling 5		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111	106	107		1391,1391	4.6	1	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987060C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	2.37:g.46987060C>T	ENSP00000305133:p.Ser464Leu					SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1563	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	464			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1391C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			18	687	0	0	0	1	0	18	687					T	46987060	C	T	46987060	3	4	79	1	0	0	0	0	1	0	0	0	14967	893	31	1	1393	1	SOCS5	2	46987060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	46987060	196212313	2430	12747											
TTC7A	57217	broad.mit.edu	37	chr2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccagatggcggccaaGcacctggcgggggtcctgct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	285					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCGGCCAAGCACCTGGCGG	0.617																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(853-855)aaG>aaT		tetratricopeptide repeat domain 7A							90	96	94					2																	47221507		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47221507G>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.855G>T	2.37:g.47221507G>T	ENSP00000316699:p.Lys285Asn					TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N	p.K285N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1223	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	285					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.855G>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275418	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.32023	1.88;1.88;1.47	4.63	2.82	0.32997	.	0.346876	0.29205	N	0.012822	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	D;P;P;P;P	0.53619	0.961;0.57;0.835;0.651;0.696	B;B;B;B;B	0.43360	0.417;0.096;0.272;0.122;0.196	T	0.02975	-1.1087	10	0.72032	D	0.01	-23.2989	9.8632	0.41127	0.1717:0.0:0.8283:0.0	.	285;251;285;113;251	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	251;285;285;112	ENSP00000386307:K251N;ENSP00000316699:K285N;ENSP00000378320:K285N	ENSP00000316699:K285N	K	+	3	2	TTC7A	47075011	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.442000	0.35046	0.679000	0.31345	0.655000	0.94253	AAG		0.617	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		33	934	1	0	8.58068e-18	1	9.49213e-18	33	934					T	47221507	G	T	47221507	3	4	79	1	0	0	0	0	1	0	0	0	16766	962	34	3	881	3	TTC7A	2	47221507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234447	47221507	195977866	2431	12748											
MSH2	4436	broad.mit.edu	37	chr2	47693796	47693796	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttcttcttgattatcaaGgcttggaccctggcaaacag	8	10	3	1	rs267607964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000233146.2	+	10	1733		c.e10-1		MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000406134.1_Splice_Site	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2						ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATTATCAAGGCTTGGACCC	0.308			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.e10-1	Mismatch excision repair (MMR)	mutS homolog 2							79	84	82					2																	47693796		2203	4300	6503	SO:0001630	splice_region_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693796G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1511-1G>T	2.37:g.47693796G>T						MSH2_ENST00000233146.2_Splice_Site|MSH2_ENST00000543555.1_Splice_Site				P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1572	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)						B4E2Z2|O75488	Splice_Site	SNP	ENST00000233146.2	37		CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982568	0.74474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47547300	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	.		0.308	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		Intron	63	371	1	0	2.40885e-21	1	2.71177e-21	63	371					T	47693796	G	T	47693796	5	4	79	1	0	0	0	0	0	0	1	0	9911	1014	35	3	1548	3	MSH2	2	47693796	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472289	47693796	195505577	2432	12749											
MSH6	2956	broad.mit.edu	37	chr2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcatccgcgagaaagggAaatcagtccgtgttcatgta	10	9	3	1	rs372352774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	125	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGAAAGGGAAATCAGTCCG	0.478			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(373-375)Aaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							121	117	118					2																	48018178		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48018178A>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.373A>T	2.37:g.48018178A>T	ENSP00000234420:p.Lys125*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	p.K125*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	525	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	125			PWWP.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.373A>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165162	0.94768	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.77	5.77	0.91146	.	0.170355	0.51477	D	0.000100	.	.	.	.	.	.	0.47009	D	0.999281	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9904	16.0985	0.81148	1.0:0.0:0.0:0.0	.	.	.	.	X	125;123;125;26;26;26	.	ENSP00000234420:K125X	K	+	1	0	MSH6	47871682	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAA		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		148	379	0	0	0	1	0	148	379					T	48018178	A	T	48018178	4	4	79	1	0	0	0	0	0	1	0	0	9915	247	9	5	379	5	MSH6	2	48018178	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324382	48018178	195181195	2433	12750											
MSH6	2956	broad.mit.edu	37	chr2	48026622	48026622	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatgtagaaagatggcAcatatatccaagtatgatag	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_ENST00000538136.1_Silent_p.A198A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	500					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAGATGGCACATATATCCA	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1498-1500)gcA>gcC	Mismatch excision repair (MMR)	mutS homolog 6							93	86	88					2																	48026622		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026622A>C	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1500A>C	2.37:g.48026622A>C						FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A|MSH6_ENST00000538136.1_Silent_p.A198A	p.A500A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1652	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	500					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1500A>C	CCDS1836.1																																																																																				0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		57	197	0	0	0	1	0	57	197					C	48026622	A	C	48026622	2	2	79	1	0	0	0	0	0	0	0	1	9915	146	6	4		4	MSH6	2	48026622	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8444	48026622	195172751	2434	12751											
MSH6	2956	broad.mit.edu	37	chr2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagcttaaaggatcacGccatccttgcattacgaaga	8	10	1	2	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1095			R -> H (in CRC; unknown pathological significance; mismatch repair proficient). {ECO:0000269|PubMed:12522549}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.0?(2)|p.R1095H(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM030237	MSH6	M	rs63750253	c.(3283-3285)cGc>cAc	Mismatch excision repair (MMR)	mutS homolog 6							135	118	124					2																	48030670		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48030670G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3284G>A	2.37:g.48030670G>A	ENSP00000234420:p.Arg1095His					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|MSH6_ENST00000538136.1_Missense_Mutation_p.R793H	p.R1095H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	3436	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1095		R -> H (in CRC; uncertain pathogenicity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3284G>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	MSH6	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		81	285	0	0	0	1	0	81	285					A	48030670	G	A	48030670	3	1	79	1	0	0	0	0	1	0	0	0	9915	1087	38	1	3302	1	MSH6	2	48030670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	48030670	195168703	2435	12752											
MSH6	2956	broad.mit.edu	37	chr2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagcaaatgcagttgttaaaGaacttgctgagactataaaa	8	5	0	2	rs35717727|rs193922343|rs267608115	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1234			E -> Q (in dbSNP:rs35717727).		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGTTAAAGAACTTGCTGA	0.343			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3700-3702)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							94	89	91					2																	48033396		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48033396G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3700G>T	2.37:g.48033396G>T	ENSP00000234420:p.Glu1234*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*	p.E1234*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	3852	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1234		E -> Q (in dbSNP:rs35717727).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3700G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.267563	0.99731	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.5	5.5	0.81552	.	0.091222	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-22.6663	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	1234;200;1104;932	.	ENSP00000234420:E1234X	E	+	1	0	MSH6	47886900	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.376000	0.97181	2.861000	0.98227	0.655000	0.94253	GAA		0.343	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		53	221	1	0	2.72333e-11	1	2.9033e-11	53	221					T	48033396	G	T	48033396	4	4	79	1	0	0	0	0	0	1	0	0	9915	943	33	3	3730	3	MSH6	2	48033396	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2726	48033396	195165977	2436	12753											
FBXO11	80204	broad.mit.edu	37	chr2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacaaacctgcggcaaAtccatcaaatattctgtttt	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000405808.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	777					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2329-2331)Ttt>Ctt		F-box protein 11							76	75	76					2																	48037464		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48037464A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2329T>C	2.37:g.48037464A>G	ENSP00000384823:p.Phe777Leu					FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L	p.F777L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		19	2401	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	777					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2329T>C	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691405	0.48097	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.04245	-0.25	0.80722	D	1	B	0.29862	0.259	P	0.55871	0.786	T	0.76547	-0.2919	10	0.27785	T	0.31	-2.8193	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201	B3KUR1	.	L	693;777;693;201	ENSP00000385398:F693L;ENSP00000384823:F777L;ENSP00000323822:F693L;ENSP00000397359:F201L	ENSP00000323822:F693L	F	-	1	0	FBXO11	47890968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTT		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		25	149	0	0	0	1	0	25	149					G	48037464	A	G	48037464	3	3	79	1	0	0	0	0	1	0	0	0	5752	101	4	4	474	4	FBXO11	2	48037464	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4068	48037464	195161909	2437	12754											
KLRAQ1	129285	broad.mit.edu	37	chr2	48725768	48725768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagaatacaggtagtgCccagctggttgggctggccc	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48725768C>T	ENST00000294952.8	+	17	1986	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A579V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A610V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	610						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ACAGGTAGTGCCCAGCTGGTT	0.483																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1828-1830)gCc>gTc		protein phosphatase 1, regulatory subunit 21							106	98	101					2																	48725768		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48725768C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1829C>T	2.37:g.48725768C>T	ENSP00000294952:p.Ala610Val					PPP1R21_ENST00000449090.2_Missense_Mutation_p.A579V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A610V	p.A610V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			17	1986	+			610					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1829C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012605	0.19277	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	3.0	0.34707	.	0.258920	0.43579	D	0.000546	T	0.31482	0.0798	N	0.22421	0.69	0.22342	N	0.999182	P;B;B	0.35242	0.492;0.211;0.437	B;B;B	0.34931	0.192;0.192;0.121	T	0.09487	-1.0672	9	0.27082	T	0.32	-6.5177	18.6217	0.91323	0.0:0.3942:0.6057:0.0	.	579;610;610	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	V	610;610;579	.	ENSP00000281394:A610V	A	+	2	0	KLRAQ1	48579272	1.000000	0.71417	0.982000	0.44146	0.226000	0.24999	1.897000	0.39799	0.805000	0.34159	-0.133000	0.14855	GCC		0.483	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		45	213	0	0	0	1	0	45	213					T	48725768	C	T	48725768	3	4	79	1	0	0	0	0	1	0	0	0	8443	739	26	2	1895	2	KLRAQ1	2	48725768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688304	48725768	194473605	2438	12755											
KLRAQ1	129285	broad.mit.edu	37	chr2	48734492	48734492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtctcagttgcagctgGctgacagtaagtcagtgcat	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48734492G>A	ENST00000294952.8	+	19	2210	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A643T|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A674T|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	685						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GTTGCAGCTGGCTGACAGTAA	0.413																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(2053-2055)Gct>Act		protein phosphatase 1, regulatory subunit 21							168	149	155					2																	48734492		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48734492G>A	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2053G>A	2.37:g.48734492G>A	ENSP00000294952:p.Ala685Thr					PPP1R21_ENST00000449090.2_Missense_Mutation_p.A643T|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A674T|PPP1R21_ENST00000476199.1_3'UTR	p.A685T	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			19	2210	+			685					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.2053G>A	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469891	0.84533	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.01	5.01	0.66863	.	0.106709	0.64402	D	0.000004	T	0.60508	0.2274	M	0.72894	2.215	0.54753	D	0.999986	P;P;B	0.49559	0.925;0.645;0.161	B;B;B	0.43838	0.433;0.41;0.116	T	0.59690	-0.7407	9	0.20519	T	0.43	-13.0053	18.8654	0.92290	0.0:0.0:1.0:0.0	.	643;685;674	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	T	674;685;643	.	ENSP00000281394:A674T	A	+	1	0	KLRAQ1	48587996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.416000	0.66417	2.751000	0.94390	0.655000	0.94253	GCT		0.413	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		79	287	0	0	0	1	0	79	287					A	48734492	G	A	48734492	3	1	79	1	0	0	0	0	1	0	0	0	8443	1203	42	2	2127	2	KLRAQ1	2	48734492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8724	48734492	194464881	2439	12756											
STON1	11037	broad.mit.edu	37	chr2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcccatttcacccttgAcccaccaggaagcaaaaaga	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000406226.1	+	3	791	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1_ENST00000309835.3_Missense_Mutation_p.D199G	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	199					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACCCTTGACCCACCAGGA	0.408																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(595-597)gAc>gGc		stonin 1							83	79	80					2																	48808368		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48808368A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.596A>G	2.37:g.48808368A>G	ENSP00000384615:p.Asp199Gly					STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1_ENST00000406226.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G	p.D199G					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	606	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.596A>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542363	0.13250	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8;2.96	4.42	4.42	0.53409	.	0.526218	0.20876	N	0.084092	T	0.18509	0.0444	L	0.53249	1.67	0.09310	N	1	D;P;D	0.76494	0.999;0.651;0.999	D;B;D	0.72338	0.977;0.115;0.913	T	0.36768	-0.9734	10	0.19147	T	0.46	.	1.4856	0.02446	0.5238:0.1531:0.0883:0.2347	.	199;199;199	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	G	199	ENSP00000385273:D199G;ENSP00000384615:D199G;ENSP00000310969:D199G;ENSP00000385499:D199G;ENSP00000385701:D199G;ENSP00000378236:D199G;ENSP00000311493:D199G;ENSP00000378234:D199G	ENSP00000310969:D199G	D	+	2	0	STON1-GTF2A1L;STON1	48661872	0.159000	0.22864	0.386000	0.26170	0.293000	0.27360	0.993000	0.29680	2.209000	0.71365	0.533000	0.62120	GAC		0.408	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		108	309	0	0	0	1	0	108	309					G	48808368	A	G	48808368	3	3	79	1	0	0	0	0	1	0	0	0	15368	275	10	4	598	4	STON1	2	48808368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73876	48808368	194391005	2440	12757											
STON1	11037	broad.mit.edu	37	chr2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttctgaacccaaggttgaGaacttcagtgtagcaggaaa	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000406226.1	+	3	1203	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	336	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGGTTGAGAACTTCAGTG	0.368																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1006-1008)gaG>gaT		stonin 1							89	94	92					2																	48808780		2201	4300	6501	SO:0001583	missense	11037							g.chr2:48808780G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1008G>T	2.37:g.48808780G>T	ENSP00000384615:p.Glu336Asp					STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1_ENST00000406226.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D	p.E336D					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1018	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1008G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12039	2.75;2.75;2.75;2.73;2.72;2.73;2.73;2.91	5.45	3.66	0.41972	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63428	1.95	0.41356	D	0.987397	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.963;0.994	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8338	0.46675	0.2089:0.0:0.7911:0.0	.	336;336;336	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	336	ENSP00000385273:E336D;ENSP00000384615:E336D;ENSP00000310969:E336D;ENSP00000385499:E336D;ENSP00000385701:E336D;ENSP00000378236:E336D;ENSP00000311493:E336D;ENSP00000378234:E336D	ENSP00000310969:E336D	E	+	3	2	STON1-GTF2A1L;STON1	48662284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.632000	0.37102	0.870000	0.35726	0.591000	0.81541	GAG		0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		116	558	1	0	3.24416e-54	1	4.04889e-54	116	558					T	48808780	G	T	48808780	3	4	79	1	0	0	0	0	1	0	0	0	15368	933	33	3	1010	3	STON1	2	48808780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	48808780	194390593	2441	12758											
STON1	11037	broad.mit.edu	37	chr2	48809668	48809668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctaccaggcagtggtAtggaagatagatcggcttcc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000406226.1	+	3	2091	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	632	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGTGGTATGGAAGATAG	0.418																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1894-1896)gtA>gtG		stonin 1							49	48	48					2																	48809668		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48809668A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1896A>G	2.37:g.48809668A>G						STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1_ENST00000406226.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V	p.V632V					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1906	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1896A>G	CCDS1841.1																																																																																				0.418	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		56	226	0	0	0	1	0	56	226					G	48809668	A	G	48809668	2	3	79	1	0	0	0	0	0	0	0	1	15368	436	16	4		4	STON1	2	48809668	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	48809668	194389705	2442	12759											
LHCGR	3973	broad.mit.edu	37	chr2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgttattcactttccttaCtgtgctttcacattgtttgg	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	308					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(922-924)Gta>Tta		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						127	97	107					2																	48921388		2202	4295	6497	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48921388C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.922G>T	2.37:g.48921388C>A	ENSP00000294954:p.Val308Leu					LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|LHCGR_ENST00000405626.1_Intron	p.V308L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	943	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	308					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.922G>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588934	0.28357	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.79247	-0.87;-0.79;-1.25;-1.0	5.39	5.39	0.77823	.	0.699661	0.15057	N	0.282989	T	0.60117	0.2244	N	0.13235	0.315	0.27726	N	0.944958	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	9	.	.	.	.	9.5701	0.39422	0.0:0.9001:0.0:0.0999	.	308	P22888	LSHR_HUMAN	L	246;308;308;308	ENSP00000344301:V246L;ENSP00000294954:V308L;ENSP00000385847:V308L;ENSP00000385406:V308L	.	V	-	1	0	LHCGR	48774892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.451000	0.35145	2.521000	0.84997	0.563000	0.77884	GTA		0.338	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		7	69	1	0	0.0477658	1	0.0478703	7	69					A	48921388	C	A	48921388	3	1	79	1	0	0	0	0	1	0	0	0	8794	565	20	3	1185	3	LHCGR	2	48921388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111720	48921388	194277985	2443	12760											
FSHR	2492	broad.mit.edu	37	chr2	49195960	49195960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtcgacctggccctcAgcttcttaagattttctaag	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:49195960A>G	ENST00000406846.2	-	9	850	c.731T>C	c.(730-732)cTg>cCg	p.L244P	FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CCTGGCCCTCAGCTTCTTAAG	0.438									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(730-732)cTg>cCg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						84	81	82					2																	49195960		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195960A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.731T>C	2.37:g.49195960A>G	ENSP00000384708:p.Leu244Pro					FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR	p.L244P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	850	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	244					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.731T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492369	0.84962	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	D;D	0.82711	-1.64;-1.64	5.45	5.45	0.79879	.	0.082955	0.50627	D	0.000101	D	0.93324	0.7872	H	0.94620	3.56	0.80722	D	1	D;D	0.76494	0.975;0.999	D;D	0.75484	0.916;0.986	D	0.94962	0.8109	9	.	.	.	.	14.8487	0.70281	1.0:0.0:0.0:0.0	.	218;244	Q05AH0;P23945	.;FSHR_HUMAN	P	244;218	ENSP00000384708:L244P;ENSP00000306780:L218P	.	L	-	2	0	FSHR	49049464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	CTG		0.438	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			6	320	0	0	0	1	0	6	320					G	49195960	A	G	49195960	3	3	79	1	0	0	0	0	1	0	0	0	6100	188	7	4	1364	4	FSHR	2	49195960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274572	49195960	194003413	2444	12761											
NRXN1	9378	broad.mit.edu	37	chr2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctgctggactcccGgatcacttctgctgagcctg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000406316.2	-	22	5659	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	NRXN1_ENST00000404971.1_Missense_Mutation_p.R1465W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1395					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)			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)			CTGGACTCCCGGATCACTTCT	0.537																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4393-4395)Cgg>Tgg		neurexin 1							71	59	63					2																	50149333		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149333G>A	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.4183C>T	2.37:g.50149333G>A	ENSP00000384311:p.Arg1395Trp					NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1395W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W	p.R1465W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5732	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1395					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4393C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115777|4.115777	0.77323|0.77323	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73789	.|0.74;1.97;-0.08;-0.09;-0.78;-0.67;-0.38;-0.23	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.48286	.|U	.|0.000200	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.72118|0.72118	2.19|2.19	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D;D	.|0.89917	.|0.995;1.0;0.999;0.999;0.999;0.999	.|P;D;D;D;D;D	.|0.78314	.|0.802;0.963;0.991;0.932;0.918;0.967	D|D	0.86372|0.86372	0.1724|0.1724	5|10	.|0.87932	.|D	.|0	.|.	16.6034|16.6034	0.84822|0.84822	0.0:0.0:0.8694:0.1306|0.0:0.0:0.8694:0.1306	.|.	.|60;1465;360;1395;1414;57	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|W	61|360;314;413;1465;1395;1417;1425;1466;1417;1395	.|ENSP00000341184:R360W;ENSP00000385580:R413W;ENSP00000385142:R1465W;ENSP00000384311:R1395W;ENSP00000434015:R1417W;ENSP00000385017:R1425W;ENSP00000385434:R1417W;ENSP00000385681:R1395W	.|ENSP00000341184:R360W	P|R	-|-	2|1	0|2	NRXN1|NRXN1	50002837|50002837	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	8.001000|8.001000	0.88508|0.88508	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.537	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			45	243	0	0	0	1	0	45	243					A	50149333	G	A	50149333	3	1	79	1	0	0	0	0	1	0	0	0	10707	1115	39	1	254	1	NRXN1	2	50149333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	953373	50149333	193050040	2445	12762											
NRXN1	9378	broad.mit.edu	37	chr2	50724826	50724826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatgttatggaactccaGcctagtatgatcacctgcca	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000406316.2	-	14	4000	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.L882L|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000405472.3_Silent_p.L834L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	842	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			TGGAACTCCAGCCTAGTATGA	0.388																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2644-2646)Ctg>Ttg		neurexin 1							83	76	78					2																	50724826		1907	4119	6026	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724826G>A	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.2524C>T	2.37:g.50724826G>A						NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000406316.2_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L	p.L882L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	3983	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	842			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2644C>T	CCDS54360.1																																																																																				0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			53	265	0	0	0	1	0	53	265					A	50724826	G	A	50724826	2	1	79	1	0	0	0	0	0	0	0	1	10707	962	34	2		2	NRXN1	2	50724826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575493	50724826	192474547	2446	12763											
NRXN1	9378	broad.mit.edu	37	chr2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggcggcggatgcgcaCgctgtgccaggcgccgtcgt	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000406316.2	-	2	1825	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000404971.1_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	117	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			CGGATGCGCACGCTGTGCCAG	0.667																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(349-351)Gtg>Atg		neurexin 1							25	30	28					2																	51255063		2089	4207	6296	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255063C>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.349G>A	2.37:g.51255063C>T	ENSP00000384311:p.Val117Met					NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406316.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M	p.V117M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1688	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	117			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.349G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527919	0.85706	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.24547	U	0.037600	D	0.94823	0.8328	M	0.90483	3.12	0.49915	D	0.99983	D;D;D	0.89917	0.997;1.0;0.969	D;D;B	0.91635	0.964;0.999;0.379	D	0.95756	0.8796	10	0.72032	D	0.01	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	117;117;117	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	117	ENSP00000385142:V117M;ENSP00000384311:V117M;ENSP00000434015:V117M;ENSP00000385017:V117M;ENSP00000385434:V117M;ENSP00000385681:V117M;ENSP00000385310:V117M	ENSP00000385017:V117M	V	-	1	0	NRXN1	51108567	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	4.863000	0.62983	2.293000	0.77203	0.563000	0.77884	GTG		0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			29	178	0	0	0	1	0	29	178					T	51255063	C	T	51255063	3	4	79	1	0	0	0	0	1	0	0	0	10707	536	19	1	4649	1	NRXN1	2	51255063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530237	51255063	191944310	2447	12764											
NRXN1	9378	broad.mit.edu	37	chr2	51255298	51255298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggaagcgcgtccattgGccctcggcgcccggaaactc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	ENST00000406316.2	-	2	1590	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_ENST00000404971.1_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	38	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			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)			GCGTCCATTGGCCCTCGGCGC	0.677																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(112-114)ggC>ggT		neurexin 1							7	9	8					2																	51255298		1954	4104	6058	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255298G>A	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.114C>T	2.37:g.51255298G>A						NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406316.2_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G	p.G38G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1453	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	38			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.114C>T	CCDS54360.1																																																																																				0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			22	32	0	0	0	1	0	22	32					A	51255298	G	A	51255298	2	1	79	1	0	0	0	0	0	0	0	1	10707	1190	42	2		2	NRXN1	2	51255298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	51255298	191944075	2448	12765											
ASB3	100302652	broad.mit.edu	37	chr2	53977944	53977944	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaatggtgtcgtttcttCtaaagtagttgcattaggat	9	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977944C>A	ENST00000263634.3	-	3	465	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Nonsense_Mutation_p.E149*|ASB3_ENST00000406625.2_Nonsense_Mutation_p.E146*|GPR75-ASB3_ENST00000406687.1_Nonsense_Mutation_p.E38*|GPR75-ASB3_ENST00000394717.2_Nonsense_Mutation_p.E38*|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GTCGTTTCTTCTAAAGTAGTT	0.353																																						ENST00000263634.3																			0											c.(331-333)Gaa>Taa									113	114	114					2																	53977944		2203	4300	6503	SO:0001587	stop_gained	0				intracellular signal transduction			g.chr2:53977944C>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.331G>T	2.37:g.53977944C>A	ENSP00000263634:p.Glu111*					GPR75-ASB3_ENST00000394717.2_Nonsense_Mutation_p.E38*|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Nonsense_Mutation_p.E149*|ASB3_ENST00000406625.2_Nonsense_Mutation_p.E146*|GPR75-ASB3_ENST00000406687.1_Nonsense_Mutation_p.E38*	p.E111*	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			3	465	-			146						Nonsense_Mutation	SNP	ENST00000263634.3	37	c.331G>T	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418976|5.418976	0.96092|0.96092	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	.|.	.|.	.|.	5.54|5.54	4.67|4.67	0.58626|0.58626	.|.	0.053902|.	0.64402|.	D|.	0.000001|.	.|T	.|0.65144	.|0.2663	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71484	.|-0.4579	.|3	0.18710|.	T|.	0.47|.	-10.4489|-10.4489	14.4565|14.4565	0.67420|0.67420	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|I	111;146;38;38;149;111|103	.|.	ENSP00000263634:E111X|.	E|R	-|-	1|2	0|0	ASB3|ASB3	53831448|53831448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.010000|3.010000	0.49559|0.49559	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.353	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			51	322	1	0	1.0331e-37	1	1.24184e-37	51	322					A	53977944	C	A	53977944	4	1	79	1	0	0	0	0	0	1	0	0	1025	922	32	3	1257	3	ASB3	2	53977944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2722646	53977944	189221429	2449	12766											
ASB3	100302652	broad.mit.edu	37	chr2	53977992	53977992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctaaaagaatctgtaCgattttccaatgtccttgac	6	9	2	2	rs371519069		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977992C>T	ENST00000263634.3	-	3	417	c.283G>A	c.(283-285)Gta>Ata	p.V95I	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V133I|ASB3_ENST00000406625.2_Missense_Mutation_p.V130I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V22I|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V22I|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		AGAATCTGTACGATTTTCCAA	0.393																																						ENST00000263634.3																			0											c.(283-285)Gta>Ata									107	108	108					2																	53977992		2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chr2:53977992C>T		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.283G>A	2.37:g.53977992C>T	ENSP00000263634:p.Val95Ile					GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V22I|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V133I|ASB3_ENST00000406625.2_Missense_Mutation_p.V130I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V22I	p.V95I	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			3	417	-			130						Missense_Mutation	SNP	ENST00000263634.3	37	c.283G>A	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.868004|1.868004	0.32977|0.32977	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	5.54|5.54	0.0467|0.0467	0.14278|0.14278	.|Ankyrin repeat-containing domain (4);	.|0.456485	.|0.21812	.|N	.|0.068745	T|T	0.65491|0.65491	0.2696|0.2696	M|M	0.72479|0.72479	2.2|2.2	.|0.28312	.|N	.|0.922643	.|B;B;B	.|0.28933	.|0.008;0.228;0.142	.|B;B;B	.|0.29176	.|0.008;0.099;0.035	T|T	0.66040|0.66040	-0.6022|-0.6022	4|9	.|0.31617	.|T	.|0.26	-8.1936|-8.1936	11.6191|11.6191	0.51106|0.51106	0.0:0.6858:0.0:0.3142|0.0:0.6858:0.0:0.3142	.|.	.|95;130;95	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	H|I	87|95;130;22;22;133;95	.|ENSP00000263634:V95I;ENSP00000385085:V130I;ENSP00000384728:V22I;ENSP00000378206:V22I;ENSP00000313756:V133I	.|ENSP00000263634:V95I	R|V	-|-	2|1	0|0	ASB3|ASB3	53831496|53831496	0.000000|0.000000	0.05858|0.05858	0.048000|0.048000	0.18961|0.18961	0.933000|0.933000	0.57130|0.57130	-0.820000|-0.820000	0.04457|0.04457	0.029000|0.029000	0.15352|0.15352	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.393	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			62	342	0	0	0	1	0	62	342					T	53977992	C	T	53977992	3	4	79	1	0	0	0	0	1	0	0	0	1025	536	19	1	1305	1	ASB3	2	53977992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	53977992	189221381	2450	12767											
PSME4	23198	broad.mit.edu	37	chr2	54117259	54117259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaggatgttgctatacaAgctccccagtcattataagt	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Silent_p.A570A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTATACAAGCTCCCCAGT	0.398																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4276-4278)gcT>gcC		proteasome (prosome, macropain) activator subunit 4							142	145	144					2																	54117259		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54117259A>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4278T>C	2.37:g.54117259A>G						PSME4_ENST00000421748.2_Silent_p.A570A	p.A1426A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		37	4333	-			1426					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.4278T>C	CCDS33197.2																																																																																				0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		150	474	0	0	0	1	0	150	474					G	54117259	A	G	54117259	2	3	79	1	0	0	0	0	0	0	0	1	12756	59	3	4		4	PSME4	2	54117259	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139267	54117259	189082114	2451	12768											
PSME4	23198	broad.mit.edu	37	chr2	54127092	54127092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctaagcaatatctgGttgatagaggggttttttga	13	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAATATCTGGTTGATAGAGG	0.348																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3346-3348)aaC>aaT		proteasome (prosome, macropain) activator subunit 4							182	183	183					2																	54127092		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54127092G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3348C>T	2.37:g.54127092G>A						PSME4_ENST00000421748.2_Silent_p.N260N	p.N1116N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		29	3403	-			1116					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3348C>T	CCDS33197.2																																																																																				0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		121	616	0	0	0	1	0	121	616					A	54127092	G	A	54127092	2	1	79	1	0	0	0	0	0	0	0	1	12756	1252	44	2		2	PSME4	2	54127092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9833	54127092	189072281	2452	12769											
PSME4	23198	broad.mit.edu	37	chr2	54133798	54133798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttgatgtatctttttGtattcacaaccctcaacagt	4	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	960					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTATCTTTTTGTATTCACAAC	0.358																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2878-2880)taC>taT		proteasome (prosome, macropain) activator subunit 4							153	152	152					2																	54133798		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133798G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2880C>T	2.37:g.54133798G>A						PSME4_ENST00000421748.2_Silent_p.Y104Y	p.Y960Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		26	2935	-			960					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2880C>T	CCDS33197.2																																																																																				0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		69	342	0	0	0	1	0	69	342					A	54133798	G	A	54133798	2	1	79	1	0	0	0	0	0	0	0	1	12756	1372	48	2		2	PSME4	2	54133798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	54133798	189065575	2453	12770											
PSME4	23198	broad.mit.edu	37	chr2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtaaaaagatgtgatgCtgttaaacaaaccagctaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	336					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGTGATGCTGTTAAACAA	0.383																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(1006-1008)aGc>aAc		proteasome (prosome, macropain) activator subunit 4							133	120	124					2																	54159848		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54159848C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1007G>A	2.37:g.54159848C>T	ENSP00000384211:p.Ser336Asn					PSME4_ENST00000421748.2_Intron	p.S336N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		9	1062	-			336					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.1007G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113838	0.77210	.	.	ENSG00000068878	ENST00000404125	T	0.04809	3.55	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.66939	2.045	0.80722	D	1	P	0.35656	0.514	B	0.29176	0.099	T	0.16482	-1.0401	10	0.33141	T	0.24	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	336	Q14997	PSME4_HUMAN	N	336	ENSP00000384211:S336N	ENSP00000374643:S336N	S	-	2	0	PSME4	54013352	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.939000	0.70179	2.865000	0.98341	0.655000	0.94253	AGC		0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		99	336	0	0	0	1	0	99	336					T	54159848	C	T	54159848	3	4	79	1	0	0	0	0	1	0	0	0	12756	797	28	2	4676	2	PSME4	2	54159848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26050	54159848	189039525	2454	12771											
TSPYL6	388951	broad.mit.edu	37	chr2	54483194	54483194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgccattacctctgtcGccttgctcttttctcgggac	7	14	4	0	rs374531982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54483194G>A	ENST00000317802.7	-	1	215	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	32					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TACCTCTGTCGCCTTGCTCTT	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(94-96)gCg>gTg		TSPY-like 6		G	VAL/ALA,	2,3908		0,2,1953	90	101	97		95,	-2	0	2		97	1,8269		0,1,4134	no	missense,intron	ACYP2,TSPYL6	NM_001003937.2,NM_138448.3	64,	0,3,6087	AA,AG,GG		0.0121,0.0512,0.0246	probably-damaging,	32/411,	54483194	3,12177	1955	4135	6090	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54483194G>A	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.95C>T	2.37:g.54483194G>A	ENSP00000417919:p.Ala32Val					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	p.A32V	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	215	-			32					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.95C>T	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013240	0.19277	5.12E-4	1.21E-4	ENSG00000178021	ENST00000317802	T	0.28454	1.61	1.1	-1.96	0.07525	.	.	.	.	.	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	B	0.40410	0.328	T	0.14587	-1.0467	9	0.87932	D	0	.	1.7299	0.02929	0.289:0.0:0.4038:0.3072	.	32	Q8N831	TSYL6_HUMAN	V	32	ENSP00000417919:A32V	ENSP00000417919:A32V	A	-	2	0	TSPYL6	54336698	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.705000	0.05035	0.467000	0.42956	GCG		0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		16	773	0	0	0	1	0	16	773					A	54483194	G	A	54483194	3	1	79	1	0	0	0	0	1	0	0	0	16716	1087	38	1	1141	1	TSPYL6	2	54483194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323346	54483194	188716179	2455	12772											
SPTBN1	6711	broad.mit.edu	37	chr2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgggacaatgagaacagctCtgcgcggctttttgagcggt	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	36	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGCTCTGCGCGGCTT	0.537																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(106-108)tCt>tTt		spectrin, beta, non-erythrocytic 1							135	122	126					2																	54753662		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753662C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.107C>T	2.37:g.54753662C>T	ENSP00000349259:p.Ser36Phe					AC092839.3_ENST00000433475.1_RNA	p.S36F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	388	+			36			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.107C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394759	0.96009	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27402	1.67;1.67	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57522	-0.7797	10	0.87932	D	0	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	36	Q01082	SPTB2_HUMAN	F	36	ENSP00000349259:S36F;ENSP00000374630:S36F	ENSP00000349259:S36F	S	+	2	0	SPTBN1	54607166	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	7.794000	0.85869	2.726000	0.93360	0.650000	0.86243	TCT		0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			63	320	0	0	0	1	0	63	320					T	54753662	C	T	54753662	3	4	79	1	0	0	0	0	1	0	0	0	15171	913	32	2	109	2	SPTBN1	2	54753662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270468	54753662	188445711	2456	12773											
SPTBN1	6711	broad.mit.edu	37	chr2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtggcggaagagatcGccaattacaggcccaccctt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000356805.4	+	14	2661	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A781T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	794					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAAGAGATCGCCAATTACAG	0.597																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2341-2343)Gcc>Acc		spectrin, beta, non-erythrocytic 1							96	92	93					2																	54856651		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856651G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2380G>A	2.37:g.54856651G>A	ENSP00000349259:p.Ala794Thr					SPTBN1_ENST00000356805.4_Missense_Mutation_p.A794T	p.A781T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2726	+			794					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2341G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987641	0.35036	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53640	0.61;0.61	5.78	3.87	0.44632	.	0.312640	0.34088	N	0.004274	T	0.40645	0.1125	L	0.50333	1.59	0.33051	D	0.532808	B;B	0.28713	0.037;0.22	B;B	0.33568	0.103;0.166	T	0.47911	-0.9080	10	0.25751	T	0.34	.	7.98	0.30177	0.0894:0.0:0.7519:0.1587	.	781;794	Q01082-3;Q01082	.;SPTB2_HUMAN	T	794;781	ENSP00000349259:A794T;ENSP00000334156:A781T	ENSP00000334156:A781T	A	+	1	0	SPTBN1	54710155	0.927000	0.31430	1.000000	0.80357	0.661000	0.39034	1.759000	0.38420	0.670000	0.31165	0.655000	0.94253	GCC		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			96	453	0	0	0	1	0	96	453					A	54856651	G	A	54856651	3	1	79	1	0	0	0	0	1	0	0	0	15171	1087	38	1	2543	1	SPTBN1	2	54856651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102989	54856651	188342722	2457	12774											
SPTBN1	6711	broad.mit.edu	37	chr2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttagaacaagctgtggaGgactatgcagagaccgtgca	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000356805.4	+	24	5207	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCTGTGGAGGACTATGCAG	0.557																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(4885-4887)gaG>gaT		spectrin, beta, non-erythrocytic 1							113	103	107					2																	54874327		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54874327G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4926G>T	2.37:g.54874327G>T	ENSP00000349259:p.Glu1642Asp					SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1642D	p.E1629D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		23	5272	+			1642			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4887G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664028	0.47572	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51574	0.7;0.7	5.93	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.43923	1.385	0.37954	D	0.932739	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21381	-1.0247	10	0.40728	T	0.16	.	4.0883	0.09957	0.3414:0.0:0.4919:0.1666	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1642;1629	ENSP00000349259:E1642D;ENSP00000334156:E1629D	ENSP00000334156:E1629D	E	+	3	2	SPTBN1	54727831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	0.850000	0.35239	0.591000	0.81541	GAG		0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			90	444	1	0	8.55712e-49	1	1.05692e-48	90	444					T	54874327	G	T	54874327	3	4	79	1	0	0	0	0	1	0	0	0	15171	991	35	3	5129	3	SPTBN1	2	54874327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17676	54874327	188325046	2458	12775											
RTN4	57142	broad.mit.edu	37	chr2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactttgggtttaactatgCtctctatctctgcttgagtg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	966					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTAACTATGCTCTCTATCTC	0.403																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2896-2898)aGc>aAc		reticulon 4							137	137	137					2																	55252338		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252338C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2897G>A	2.37:g.55252338C>T	ENSP00000337838:p.Ser966Asn					RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000357732.4_Intron	p.S966N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	3140	-			966					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2897G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583026	0.13749	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.20738	2.05;2.05;2.06;2.05;2.05;2.07	5.7	4.81	0.61882	.	5.311810	0.00166	N	0.000000	T	0.28200	0.0696	M	0.64997	1.995	0.21355	N	0.999716	B	0.09022	0.002	B	0.09377	0.004	T	0.40627	-0.9553	10	0.22109	T	0.4	-0.0342	10.6257	0.45506	0.0:0.7981:0.1317:0.0702	.	966	Q9NQC3	RTN4_HUMAN	N	760;760;966;760;760;734	ENSP00000384471:S760N;ENSP00000349944:S760N;ENSP00000337838:S966N;ENSP00000378109:S760N;ENSP00000385650:S760N;ENSP00000346465:S734N	ENSP00000337838:S966N	S	-	2	0	RTN4	55105842	0.939000	0.31865	0.316000	0.25252	0.007000	0.05969	1.391000	0.34475	1.370000	0.46153	0.655000	0.94253	AGC		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			41	454	0	0	0	1	0	41	454					T	55252338	C	T	55252338	3	4	79	1	0	0	0	0	1	0	0	0	13778	797	28	2	747	2	RTN4	2	55252338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378011	55252338	187947035	2459	12776											
RTN4	57142	broad.mit.edu	37	chr2	55253303	55253303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatgctttcataattAactgaagaagcttctaatgg	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	644					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTCATAATTAACTGAAGAAG	0.408																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1930-1932)gtT>gtC		reticulon 4							33	35	34					2																	55253303		2203	4300	6503	SO:0001819	synonymous_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253303A>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1932T>C	2.37:g.55253303A>G						RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000357732.4_Intron	p.V644V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2175	-			644					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	c.1932T>C	CCDS42684.1																																																																																				0.408	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			35	165	0	0	0	1	0	35	165					G	55253303	A	G	55253303	2	3	79	1	0	0	0	0	0	0	0	1	13778	349	13	4		4	RTN4	2	55253303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	965	55253303	187946070	2460	12777											
C2orf63	130162	broad.mit.edu	37	chr2	55407780	55407780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctaaagccaggcacttgGccttgttataagtatcctgc	10	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55407780G>A	ENST00000401408.1	-	11	1595	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.A417V|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A295V	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	417																	CAGGCACTTGGCCTTGTTATA	0.433																																						ENST00000401408.1																			0											c.(1249-1251)gCc>gTc		clathrin heavy chain linker domain containing 1							118	109	112					2																	55407780		2203	4300	6503	SO:0001583	missense	130162							g.chr2:55407780G>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1250C>T	2.37:g.55407780G>A	ENSP00000384869:p.Ala417Val					CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A295V|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.A417V	p.A417V	NM_152385.2	NP_689598.2					11	1595	-								B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.1250C>T	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802390	0.70682	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.20598	2.07;2.07;2.06	5.98	5.98	0.97165	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.657771	0.14568	N	0.311608	T	0.24084	0.0583	L	0.51422	1.61	0.80722	D	1	P	0.39665	0.682	B	0.35550	0.205	T	0.03112	-1.1071	10	0.59425	D	0.04	0.4097	17.3688	0.87370	0.0:0.0:1.0:0.0	.	417	Q8NHS4	CB063_HUMAN	V	417;417;295	ENSP00000385778:A417V;ENSP00000384869:A417V;ENSP00000385512:A295V	ENSP00000384869:A417V	A	-	2	0	C2orf63	55261284	0.997000	0.39634	0.969000	0.41365	0.929000	0.56500	2.967000	0.49216	2.838000	0.97847	0.591000	0.81541	GCC		0.433	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		73	325	0	0	0	1	0	73	325					A	55407780	G	A	55407780	3	1	79	1	0	0	0	0	1	0	0	0	2189	1203	42	2	522	2	C2orf63	2	55407780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154477	55407780	187791593	2461	12778											
CCDC88A	55704	broad.mit.edu	37	chr2	55589552	55589552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcacttccatccattgCaggtcaaacacattttcctg	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000436346.1	-	7	1360	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	173					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATCCATTGCAGGTCAAACA	0.343																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(517-519)ctG>ctA		coiled-coil domain containing 88A							103	97	99					2																	55589552		2203	4300	6503	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55589552C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.519G>A	2.37:g.55589552C>T						CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L	p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			7	1360	-			173					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.519G>A																																																																																					0.343	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		36	130	0	0	0	1	0	36	130					T	55589552	C	T	55589552	2	4	79	1	0	0	0	0	0	0	0	1	2870	697	25	2		2	CCDC88A	2	55589552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181772	55589552	187609821	2462	12779											
CCDC104	112942	broad.mit.edu	37	chr2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgcagctgcaagccattcGaataattcaagagagaaatg	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q			Q96G28	CFA36_HUMAN		126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333																																						ENST00000349456.4																			1	Substitution - Missense(1)	p.R126Q(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(376-378)cGa>cAa		coiled-coil domain containing 104							55	55	55					2																	55756108		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55756108G>A																												ENST00000349456.4:c.377G>A	2.37:g.55756108G>A	ENSP00000295117:p.Arg126Gln					CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q	p.R126Q			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	525	+			126					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.377G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829275	0.71258	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.30714	2.22;1.52;2.24;2.29;1.52	6.17	5.3	0.74995	.	0.058328	0.64402	D	0.000002	T	0.28034	0.0691	L	0.34521	1.04	0.48236	D	0.999614	P;D	0.58620	0.874;0.983	B;B	0.44315	0.117;0.446	T	0.02070	-1.1219	10	0.33141	T	0.24	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	126;151	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	151;126;126;126;126	ENSP00000342699:R151Q;ENSP00000385400:R126Q;ENSP00000295117:R126Q;ENSP00000385376:R126Q;ENSP00000385972:R126Q	ENSP00000342699:R151Q	R	+	2	0	CCDC104	55609612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	1.620000	0.50308	0.655000	0.94253	CGA		0.333	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			17	211	0	0	0	1	0	17	211					A	55756108	G	A	55756108	3	1	79	1	0	0	0	0	1	0	0	0	2746	1058	37	1	391	1	CCDC104	2	55756108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166556	55756108	187443265	2463	12780											
CCDC104	112942	broad.mit.edu	37	chr2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattacctgactgcttaaccGatggctctgatgtggtcagt	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR			Q96G28	CFA36_HUMAN		141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(421-423)Gat>Aat		coiled-coil domain containing 104							134	130	131					2																	55761032		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55761032G>A																												ENST00000349456.4:c.421G>A	2.37:g.55761032G>A	ENSP00000295117:p.Asp141Asn					CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N	p.D141N			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	569	+			141					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.421G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT		0.358	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			82	309	0	0	0	1	0	82	309					A	55761032	G	A	55761032	3	1	79	1	0	0	0	0	1	0	0	0	2746	1058	37	1	439	1	CCDC104	2	55761032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4924	55761032	187438341	2464	12781											
SMEK2	57223	broad.mit.edu	37	chr2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaataagattcctctaaTaatttcatacaaatggtgta	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000345102.5	-	4	893	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V|SMEK2_ENST00000272313.5_Missense_Mutation_p.I198V	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	198					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTCTAATAATTTCATAC	0.383																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(592-594)Att>Gtt		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							64	69	67					2																	55825881		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825881T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.592A>G	2.37:g.55825881T>C	ENSP00000339769:p.Ile198Val					SMEK2_ENST00000345102.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	p.I198V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	919	-			198					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.592A>G	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591840	0.28357	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.74	4.56	0.56223	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.148187	0.64402	D	0.000010	T	0.24470	0.0593	N	0.16307	0.4	0.44789	D	0.997791	B;B;B;B	0.13594	0.0;0.004;0.001;0.008	B;B;B;B	0.20384	0.001;0.029;0.003;0.013	T	0.05835	-1.0861	10	0.06494	T	0.89	-7.5148	12.0855	0.53695	0.129:0.0:0.0:0.871	.	198;198;198;198	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	V	198	ENSP00000272313:I198V;ENSP00000385912:I198V;ENSP00000339769:I198V	ENSP00000272313:I198V	I	-	1	0	SMEK2	55679385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	0.953000	0.37825	0.533000	0.62120	ATT		0.383	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		97	227	0	0	0	1	0	97	227					C	55825881	T	C	55825881	3	2	79	1	0	0	0	0	1	0	0	0	14844	1406	49	4	2013	4	SMEK2	2	55825881	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64849	55825881	187373492	2465	12782											
SMEK2	57223	broad.mit.edu	37	chr2	55825941	55825941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgcaagcttggaacaGctgcaatagttttttaatat	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000345102.5	-	4	833	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000407823.3_Silent_p.L178L|SMEK2_ENST00000272313.5_Silent_p.L178L	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	178					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTGGAACAGCTGCAATAGT	0.398																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(532-534)Ctg>Ttg		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							78	83	81					2																	55825941		2203	4300	6503	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825941G>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.532C>T	2.37:g.55825941G>A						SMEK2_ENST00000345102.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	p.L178L	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	859	-			178					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.532C>T	CCDS46289.1																																																																																				0.398	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		58	300	0	0	0	1	0	58	300					A	55825941	G	A	55825941	2	1	79	1	0	0	0	0	0	0	0	1	14844	962	34	2		2	SMEK2	2	55825941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	55825941	187373432	2466	12783											
PNPT1	87178	broad.mit.edu	37	chr2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatagccaccaggtccaacAaattttgctcgttttgataa	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	620	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGTCCAACAAATTTTGCTC	0.333																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1858-1860)ttT>ttA		polyribonucleotide nucleotidyltransferase 1							78	79	79					2																	55871818		2203	4298	6501	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55871818A>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1860T>A	2.37:g.55871818A>T	ENSP00000400646:p.Phe620Leu						p.F620L	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		23	1946	-			620			KH.		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1860T>A	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436695	0.12104	.	.	ENSG00000138035	ENST00000447944	T	0.22134	1.97	5.97	3.64	0.41730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.11427	0.14	0.53005	D	0.999963	B	0.14012	0.009	B	0.23716	0.048	T	0.07809	-1.0753	10	0.87932	D	0	-27.5943	8.8176	0.35004	0.7663:0.0:0.2337:0.0	.	620	Q8TCS8	PNPT1_HUMAN	L	620	ENSP00000400646:F620L	ENSP00000393953:F620L	F	-	3	2	PNPT1	55725322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.121000	0.50438	0.531000	0.28639	-0.250000	0.11733	TTT		0.333	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		56	318	0	0	0	1	0	56	318					T	55871818	A	T	55871818	3	4	79	1	0	0	0	0	1	0	0	0	12215	127	5	5	515	5	PNPT1	2	55871818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45877	55871818	187327555	2467	12784											
PNPT1	87178	broad.mit.edu	37	chr2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaatatctgtcagcaaacGataatcttctatttcaccct	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCAGCAAACGATAATCTTCT	0.313																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1582-1584)Cgt>Tgt		polyribonucleotide nucleotidyltransferase 1							94	96	95					2																	55874502		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874502G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1582C>T	2.37:g.55874502G>A	ENSP00000400646:p.Arg528Cys						p.R528C	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1668	-			528					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1582C>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486391	0.63962	.	.	ENSG00000138035	ENST00000447944	T	0.44083	0.93	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.55481	1.735	0.80722	D	1	P	0.44090	0.826	B	0.43701	0.428	T	0.50206	-0.8855	10	0.66056	D	0.02	-5.3929	19.831	0.96636	0.0:0.0:1.0:0.0	.	528	Q8TCS8	PNPT1_HUMAN	C	528	ENSP00000400646:R528C	ENSP00000386075:R528C	R	-	1	0	PNPT1	55728006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.755000	0.94549	0.563000	0.77884	CGT		0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		79	477	0	0	0	1	0	79	477					A	55874502	G	A	55874502	3	1	79	1	0	0	0	0	1	0	0	0	12215	1058	37	1	809	1	PNPT1	2	55874502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2684	55874502	187324871	2468	12785											
EFEMP1	2202	broad.mit.edu	37	chr2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaatgaaaatggccccaCtattattgtcaatcttaaca	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	488	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1462-1464)Gtg>Atg		EGF containing fibulin-like extracellular matrix protein 1							132	121	125					2																	56094228		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56094228C>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1462G>A	2.37:g.56094228C>T	ENSP00000378058:p.Val488Met					EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1897	-			488			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.1462G>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408195	0.83340	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.88818	-2.43;-2.43;-1.95;-2.43	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000053	D	0.94241	0.8151	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.94553	0.7755	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	350;488	B4DW75;Q12805	.;FBLN3_HUMAN	M	488;488;344;350;488	ENSP00000378058:V488M;ENSP00000378057:V488M;ENSP00000399145:V350M;ENSP00000347596:V488M	ENSP00000347596:V488M	V	-	1	0	EFEMP1	55947732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.623000	0.88846	0.585000	0.79938	GTG		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			139	453	0	0	0	1	0	139	453					T	56094228	C	T	56094228	3	4	79	1	0	0	0	0	1	0	0	0	4957	565	20	2	23	2	EFEMP1	2	56094228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219726	56094228	187105145	2469	12786											
EFEMP1	2202	broad.mit.edu	37	chr2	56094325	56094325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgttctcttggtcctgaTaatgacttcacgagcacaag	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000394554.1_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	455	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1363-1365)ttA>ttG		EGF containing fibulin-like extracellular matrix protein 1							108	90	96					2																	56094325		2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56094325T>C	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1365A>G	2.37:g.56094325T>C						EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L	p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1800	-			455			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.1365A>G	CCDS1857.1																																																																																				0.403	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			93	275	0	0	0	1	0	93	275					C	56094325	T	C	56094325	2	2	79	1	0	0	0	0	0	0	0	1	4957	1403	49	4		4	EFEMP1	2	56094325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	56094325	187105048	2470	12787											
EFEMP1	2202	broad.mit.edu	37	chr2	56098049	56098049	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgggcaaacacatcGgctgcagagacaaacaaaag	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000355426.3_Splice_Site_p.R376*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*|EFEMP1_ENST00000424836.2_Splice_Site_p.R238*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	376	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e10-1		EGF containing fibulin-like extracellular matrix protein 1							74	77	76					2																	56098049		2203	4300	6503	SO:0001630	splice_region_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56098049G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1125-1C>T	2.37:g.56098049G>A						EFEMP1_ENST00000355426.3_Splice_Site_p.R376_splice|EFEMP1_ENST00000424836.2_Splice_Site_p.R238_splice|EFEMP1_ENST00000394554.1_Splice_Site_p.R376_splice	p.R376_splice	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1561	-			376			EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Splice_Site	SNP	ENST00000394555.2	37	c.1124_splice	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821538	0.97865	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;232;238;376	.	ENSP00000347596:R376X	R	-	1	2	EFEMP1	55951553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.939000	0.87685	2.824000	0.97209	0.655000	0.94253	CGA		0.433	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		Nonsense_Mutation	99	239	0	0	0	1	0	99	239					A	56098049	G	A	56098049	5	1	79	1	0	0	0	0	0	0	1	0	4957	1130	39	1	363	1	EFEMP1	2	56098049	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	56098049	187101324	2471	12788											
EFEMP1	2202	broad.mit.edu	37	chr2	56144918	56144918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgacaaagttatttcgGccagtctgcatttcagggcc	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000394554.1_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	133					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(397-399)ggC>ggT		EGF containing fibulin-like extracellular matrix protein 1							60	58	59					2																	56144918		2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144918G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.399C>T	2.37:g.56144918G>A						EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G	p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	834	-			133					A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.399C>T	CCDS1857.1																																																																																				0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			105	311	0	0	0	1	0	105	311					A	56144918	G	A	56144918	2	1	79	1	0	0	0	0	0	0	0	1	4957	1190	42	2		2	EFEMP1	2	56144918	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46869	56144918	187054455	2472	12789											
EFEMP1	2202	broad.mit.edu	37	chr2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgactgcagcagcactgGccacaaaaccacccccgggc	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	120					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(358-360)gCc>gTc		EGF containing fibulin-like extracellular matrix protein 1							56	55	55					2																	56144958		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144958G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.359C>T	2.37:g.56144958G>A	ENSP00000378058:p.Ala120Val					EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	794	-			120					A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.359C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306055	0.81247	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83755	-1.76;-1.76;-1.28;-1.76;-1.18	4.58	3.69	0.42338	.	0.000000	0.47852	D	0.000203	T	0.61085	0.2319	N	0.08118	0	0.24765	N	0.992903	B;B	0.18310	0.027;0.002	B;B	0.11329	0.006;0.003	T	0.44832	-0.9302	10	0.13470	T	0.59	.	6.5096	0.22214	0.0963:0.1837:0.72:0.0	.	62;120	B4DW75;Q12805	.;FBLN3_HUMAN	V	120;120;62;120;120	ENSP00000378058:A120V;ENSP00000378057:A120V;ENSP00000399145:A62V;ENSP00000347596:A120V;ENSP00000392055:A120V	ENSP00000347596:A120V	A	-	2	0	EFEMP1	55998462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	1.522000	0.49001	0.650000	0.86243	GCC		0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			81	373	0	0	0	1	0	81	373					A	56144958	G	A	56144958	3	1	79	1	0	0	0	0	1	0	0	0	4957	1203	42	2	1154	2	EFEMP1	2	56144958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	56144958	187054415	2473	12790											
CCDC85A	114800	broad.mit.edu	37	chr2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagcccggaccaccacaaGcaccacgcgagcagtggcag	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(676-678)aaG>aaT		coiled-coil domain containing 85A							25	35	32					2																	56420013		2177	4274	6451	SO:0001583	missense	114800							g.chr2:56420013G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.678G>T	2.37:g.56420013G>T	ENSP00000384040:p.Lys226Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.K226N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1180	+			226			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.678G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663758	0.47572	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	1.86	0.25419	.	0.250691	0.45867	D	0.000333	T	0.34571	0.0902	L	0.29908	0.895	0.80722	D	1	P	0.36027	0.533	B	0.34590	0.186	T	0.04976	-1.0914	9	0.22706	T	0.39	0.196	8.7085	0.34369	0.4288:0.0:0.5712:0.0	.	226	Q96PX6	CC85A_HUMAN	N	226	.	ENSP00000384040:K226N	K	+	3	2	CCDC85A	56273517	0.997000	0.39634	0.993000	0.49108	0.898000	0.52572	0.477000	0.22196	0.554000	0.29061	0.655000	0.94253	AAG		0.687	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			70	248	1	0	1.26778e-28	1	1.47706e-28	70	248					T	56420013	G	T	56420013	3	4	79	1	0	0	0	0	1	0	0	0	2866	962	34	3	684	3	CCDC85A	2	56420013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275055	56420013	186779360	2474	12791											
CCDC85A	114800	broad.mit.edu	37	chr2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcacccgcatccagggaGcagccccgaaacgctgccca	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(898-900)aGc>aTc		coiled-coil domain containing 85A							60	75	70					2																	56420234		2055	4196	6251	SO:0001583	missense	114800							g.chr2:56420234G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.899G>T	2.37:g.56420234G>T	ENSP00000384040:p.Ser300Ile					RP11-482H16.1_ENST00000607540.1_RNA	p.S300I	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1401	+			300			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.899G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148388	0.37923	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.35	4.47	0.54385	.	0.425405	0.29053	N	0.013291	T	0.39009	0.1062	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	B	0.41619	0.361	T	0.28902	-1.0029	10	0.49607	T	0.09	-47.9685	14.0689	0.64849	0.073:0.0:0.927:0.0	.	300	Q96PX6	CC85A_HUMAN	I	300	ENSP00000384040:S300I	ENSP00000384040:S300I	S	+	2	0	CCDC85A	56273738	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	5.460000	0.66691	1.260000	0.44134	0.591000	0.81541	AGC		0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			42	611	1	0	4.32679e-17	1	4.76816e-17	42	611					T	56420234	G	T	56420234	3	4	79	1	0	0	0	0	1	0	0	0	2866	971	34	3	905	3	CCDC85A	2	56420234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	56420234	186779139	2475	12792											
CCDC85A	114800	broad.mit.edu	37	chr2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgtgctgagtgggagcccgGaacacttccagaagcaccgg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(943-945)Gaa>Taa		coiled-coil domain containing 85A							60	70	67					2																	56420278		2030	4185	6215	SO:0001587	stop_gained	114800							g.chr2:56420278G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.943G>T	2.37:g.56420278G>T	ENSP00000384040:p.Glu315*					RP11-482H16.1_ENST00000607540.1_RNA	p.E315*	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1445	+			315			His-rich.			Nonsense_Mutation	SNP	ENST00000407595.2	37	c.943G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	43	10.239125	0.99366	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2501	19.0598	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000384040:E315X	E	+	1	0	CCDC85A	56273782	1.000000	0.71417	0.115000	0.21578	0.935000	0.57460	6.664000	0.74437	2.507000	0.84556	0.591000	0.81541	GAA		0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			39	558	1	0	7.04047e-22	1	7.94894e-22	39	558					T	56420278	G	T	56420278	4	4	79	1	0	0	0	0	0	1	0	0	2866	1175	41	3	949	3	CCDC85A	2	56420278	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	56420278	186779095	2476	12793											
BCL11A	53335	broad.mit.edu	37	chr2	60688136	60688136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgaactccttctcgagCttgatgcgcttagagaaggg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000356842.4_Silent_p.K637K|BCL11A_ENST00000538214.1_Silent_p.K603K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	637					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTCTCGAGCTTGATGCGCT	0.687			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1909-1911)aaG>aaA		B-cell CLL/lymphoma 11A (zinc finger protein)							22	25	24					2																	60688136		2198	4299	6497	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688136C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1911G>A	2.37:g.60688136C>T						BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.K637K	p.K637K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2138	-			637					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1911G>A	CCDS1862.1																																																																																				0.687	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		74	255	0	0	0	1	0	74	255					T	60688136	C	T	60688136	2	4	79	1	0	0	0	0	0	0	0	1	1364	796	28	2		2	BCL11A	2	60688136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4267858	60688136	182511237	2477	12794											
BCL11A	53335	broad.mit.edu	37	chr2	60688595	60688595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcctcttcctcctcGtccccgttctccgggatcag	7	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000356842.4_Silent_p.D484D|BCL11A_ENST00000538214.1_Silent_p.D450D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	484	Glu-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cttcctcctcgtccccgttct	0.632			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1450-1452)gaC>gaT		B-cell CLL/lymphoma 11A (zinc finger protein)							17	17	17					2																	60688595		2201	4295	6496	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688595G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1452C>T	2.37:g.60688595G>A						BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.D484D	p.D484D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1679	-			484			Glu-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1452C>T	CCDS1862.1																																																																																				0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		34	97	0	0	0	1	0	34	97					A	60688595	G	A	60688595	2	1	79	1	0	0	0	0	0	0	0	1	1364	1136	40	1		1	BCL11A	2	60688595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	60688595	182510778	2478	12795											
REL	5966	broad.mit.edu	37	chr2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagctatcacagaacccGtaacagtaaaaatgcagttg	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	257	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(769-771)Gta>Ata		v-rel avian reticuloendotheliosis viral oncogene homolog							117	115	115					2																	61145657		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61145657G>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.769G>A	2.37:g.61145657G>A	ENSP00000295025:p.Val257Ile					REL_ENST00000394479.3_Missense_Mutation_p.V257I	p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		7	1089	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	257			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.769G>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575881	0.45902	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055514	0.64402	D	0.000001	T	0.41373	0.1156	L	0.48935	1.535	0.48571	D	0.999678	P;P	0.34864	0.473;0.473	B;B	0.17722	0.019;0.019	T	0.34329	-0.9833	10	0.38643	T	0.18	-1.8014	12.7968	0.57564	0.1158:0.0:0.8842:0.0	.	257;257	Q17RU2;Q04864	.;REL_HUMAN	I	257	ENSP00000295025:V257I;ENSP00000377989:V257I	ENSP00000295025:V257I	V	+	1	0	REL	60999161	1.000000	0.71417	0.711000	0.30485	0.846000	0.48090	3.530000	0.53539	2.730000	0.93505	0.655000	0.94253	GTA		0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		163	438	0	0	0	1	0	163	438					A	61145657	G	A	61145657	3	1	79	1	0	0	0	0	1	0	0	0	13265	1145	40	1	795	1	REL	2	61145657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457062	61145657	182053716	2479	12796											
PUS10	150962	broad.mit.edu	37	chr2	61194641	61194641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgttgacccaatacctttCcatcaatgggaacacccagt	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61194641C>T	ENST00000316752.6	-	6	872	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PUS10_ENST00000407787.1_Missense_Mutation_p.G204E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	204					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAATACCTTTCCATCAATGGG	0.373																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(610-612)gGa>gAa		pseudouridylate synthase 10							142	144	143					2																	61194641		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61194641C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.611G>A	2.37:g.61194641C>T	ENSP00000326003:p.Gly204Glu					PUS10_ENST00000407787.1_Missense_Mutation_p.G204E	p.G204E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		6	872	-			204					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.611G>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518527	0.85495	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.87	5.87	0.94306	.	0.326590	0.34676	N	0.003767	T	0.70290	0.3207	M	0.73962	2.25	0.80722	D	1	D	0.55172	0.97	P	0.47376	0.545	T	0.67681	-0.5608	9	0.30078	T	0.28	-20.0764	20.5827	0.99408	0.0:1.0:0.0:0.0	.	204	Q3MIT2	PUS10_HUMAN	E	204	.	ENSP00000326003:G204E	G	-	2	0	PUS10	61048145	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.303000	0.51858	2.941000	0.99782	0.655000	0.94253	GGA		0.373	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		10	743	0	0	0	1	0	10	743					T	61194641	C	T	61194641	3	4	79	1	0	0	0	0	1	0	0	0	12881	855	30	2	1030	2	PUS10	2	61194641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48984	61194641	182004732	2480	12797											
PEX13	5194	broad.mit.edu	37	chr2	61258998	61258998	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacactttacaaaagtgttTtcagcttttgcattggttag	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.5	+	2	575	c.537T>A	c.(535-537)ttT>ttA	p.F179L	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	179	Interaction with PEX19.|Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CAAAAGTGTTTTCAGCTTTTG	0.413																																						ENST00000295030.4																			0				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(535-537)ttT>ttA		peroxisomal biogenesis factor 13							123	121	122					2																	61258998		2203	4300	6503	SO:0001583	missense	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258998T>A	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"peroxisome biogenesis factor 13"			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.537T>A	2.37:g.61258998T>A	ENSP00000295030:p.Phe179Leu					PEX13_ENST00000472678.1_3'UTR	p.F179L	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	575	+			179			Interaction with PEX19.|Targeting to peroxisomes.		B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	37	c.537T>A	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425331	0.25639	.	.	ENSG00000162928	ENST00000295030	T	0.70749	-0.51	5.85	3.48	0.39840	Peroxin 13, N-terminal (1);	0.050181	0.85682	D	0.000000	T	0.44008	0.1273	N	0.05383	-0.06	0.80722	D	1	B	0.18461	0.028	B	0.24701	0.055	T	0.32771	-0.9894	10	0.02654	T	1	-20.9736	8.4584	0.32912	0.0:0.21:0.0:0.79	.	179	Q92968	PEX13_HUMAN	L	179	ENSP00000295030:F179L	ENSP00000295030:F179L	F	+	3	2	PEX13	61112502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.914000	0.28624	0.472000	0.27344	0.533000	0.62120	TTT		0.413	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		15	698	0	0	0	1	0	15	698					A	61258998	T	A	61258998	3	1	79	1	0	0	0	0	1	0	0	0	11783	1838	64	5	543	5	PEX13	2	61258998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64357	61258998	181940375	2481	12798											
KIAA1841	84542	broad.mit.edu	37	chr2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttttgatatcagaaAtgaagtactttgctgaatat	8	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(517-519)Atg>Gtg		KIAA1841							90	93	92					2																	61304140		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61304140A>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.517A>G	2.37:g.61304140A>G	ENSP00000385579:p.Met173Val					KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000482513.1_3'UTR	p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	758	+			173					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.517A>G	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473755	0.84640	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.61710	-0.7007	10	0.87932	D	0	-20.5762	16.013	0.80417	1.0:0.0:0.0:0.0	.	173;173;173	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	173	ENSP00000385579:M173V;ENSP00000295031:M173V;ENSP00000349154:M173V;ENSP00000416795:M173V	ENSP00000295031:M173V	M	+	1	0	KIAA1841	61157644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	ATG		0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		91	457	0	0	0	1	0	91	457					G	61304140	A	G	61304140	3	3	79	1	0	0	0	0	1	0	0	0	8291	101	4	4	531	4	KIAA1841	2	61304140	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45142	61304140	181895233	2482	12799											
KIAA1841	84542	broad.mit.edu	37	chr2	61336419	61336419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatgaagaagaagtaTccaagaaacaaagtattggt	11	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	ENST00000402291.1	+	16	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	578										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAGAAGTATCCAAGAAACA	0.353																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1732-1734)Tcc>Ccc		KIAA1841							91	99	97					2																	61336419		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61336419T>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1732T>C	2.37:g.61336419T>C	ENSP00000385579:p.Ser578Pro					KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P	p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		16	1973	+			578					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1732T>C	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573965	0.45902	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.5	-1.11	0.09840	.	0.235442	0.43919	D	0.000513	T	0.38612	0.1047	L	0.56769	1.78	0.36252	D	0.853974	P;P	0.42993	0.797;0.472	B;B	0.41135	0.348;0.132	T	0.41395	-0.9511	10	0.45353	T	0.12	-3.3521	7.2753	0.26281	0.2444:0.0:0.2038:0.5518	.	578;578	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	P	578	ENSP00000385579:S578P;ENSP00000295031:S578P;ENSP00000349154:S578P;ENSP00000416795:S578P	ENSP00000295031:S578P	S	+	1	0	KIAA1841	61189923	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.045000	0.41250	0.005000	0.14708	0.477000	0.44152	TCC		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		11	478	0	0	0	1	0	11	478					C	61336419	T	C	61336419	3	2	79	1	0	0	0	0	1	0	0	0	8291	1435	50	4	1786	4	KIAA1841	2	61336419	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32279	61336419	181862954	2483	12800											
KIAA1841	84542	broad.mit.edu	37	chr2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggagaagccaaagAagttcactagacaaccaaaa	9	7	1	3	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1765-1767)Aag>Cag		KIAA1841							107	114	112					2																	61343134		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61343134A>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1765A>C	2.37:g.61343134A>C	ENSP00000385579:p.Lys589Gln					KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q	p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		17	2006	+			589					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1765A>C	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863708	0.71949	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.35	5.35	0.76521	.	0.166361	0.56097	D	0.000040	T	0.46946	0.1419	M	0.64997	1.995	0.50632	D	0.999884	D;P	0.54601	0.967;0.905	P;P	0.50490	0.642;0.462	T	0.46679	-0.9174	10	0.48119	T	0.1	-12.7431	15.3031	0.73969	1.0:0.0:0.0:0.0	.	589;589	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	Q	589	ENSP00000385579:K589Q;ENSP00000295031:K589Q;ENSP00000349154:K589Q;ENSP00000416795:K589Q	ENSP00000295031:K589Q	K	+	1	0	KIAA1841	61196638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.388000	0.73195	2.151000	0.67156	0.460000	0.39030	AAG		0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		64	228	0	0	0	1	0	64	228					C	61343134	A	C	61343134	3	2	79	1	0	0	0	0	1	0	0	0	8291	247	9	4	1823	4	KIAA1841	2	61343134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6715	61343134	181856239	2484	12801											
KIAA1841	84542	broad.mit.edu	37	chr2	61344641	61344641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggatgccacaagatcCttgagattcaaccaggatgc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000453873.1_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1903-1905)tcC>tcA		KIAA1841							148	149	148					2																	61344641		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61344641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1905C>A	2.37:g.61344641C>A						KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S	p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		19	2146	+			635					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.1905C>A	CCDS46296.1																																																																																				0.343	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		70	346	1	0	3.58576e-35	1	4.27743e-35	70	346					A	61344641	C	A	61344641	2	1	79	1	0	0	0	0	0	0	0	1	8291	668	24	3		3	KIAA1841	2	61344641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1507	61344641	181854732	2485	12802											
AHSA2	9736	broad.mit.edu	37	chr2	61411915	61411915	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgactgtcaaaagaaaaCtgagtgggaataccctgcag	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Missense_Mutation_p.L19M|AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						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)			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)			CAAAAGAAAACTGAGTGGGAA	0.438																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(55-57)Ctg>Atg		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							67	67	67					2																	61411915		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61411915C>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		2.37:g.61411915C>A						AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR	p.L19M	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		3	1798	+			181					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.55C>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.421398	0.25639	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.24	2.43	0.29744	.	0.269718	0.26457	N	0.024269	T	0.38480	0.1042	M	0.72118	2.19	0.23304	N	0.997946	P	0.42123	0.771	B	0.41088	0.347	T	0.18935	-1.0321	9	0.25751	T	0.34	-12.7862	6.7819	0.23650	0.0:0.6981:0.1443:0.1576	.	181	Q719I0	AHSA2_HUMAN	M	19;19;182;19	.	ENSP00000349525:L19M	L	+	1	2	AHSA2	61265419	0.020000	0.18652	0.979000	0.43373	0.112000	0.19704	-0.159000	0.10056	0.293000	0.22520	0.563000	0.77884	CTG		0.438	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			91	293	1	0	7.47877e-49	1	9.23912e-49	91	293					A	61411915	C	A	61411915	1	1	79	0	1	0	0	0	0	0	0	0	419	564	20	3		3	AHSA2	2	61411915	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67274	61411915	181787458	2486	12803											
USP34	9736	broad.mit.edu	37	chr2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacttccctgcatggaTtcctgtattttgaaacaaat	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	559					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)			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)			CCTGCATGGATTCCTGTATTT	0.378																																						ENST00000398571.2																			0				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						c.(1675-1677)gaA>gaC		ubiquitin specific peptidase 34							99	94	95					2																	61575613		1911	4135	6046	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.chr2:61575613T>G	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.1677A>C	2.37:g.61575613T>G	ENSP00000381577:p.Glu559Asp						p.E559D	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1753	-			559					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1677A>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293336	0.80914	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03889	3.77	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.36672	1.1	0.47094	D	0.99931	B	0.32918	0.39	B	0.32211	0.142	T	0.51849	-0.8653	10	0.22109	T	0.4	.	10.0399	0.42151	0.0:0.1917:0.0:0.8083	.	559	Q70CQ2	UBP34_HUMAN	D	407;407;559	ENSP00000381577:E559D	ENSP00000263989:E407D	E	-	3	2	USP34	61429117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.796000	0.26986	0.548000	0.28955	0.528000	0.53228	GAA		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			114	511	0	0	0	1	0	114	511					G	61575613	T	G	61575613	3	3	79	1	0	0	0	0	1	0	0	0	17119	1490	52	4	9227	4	USP34	2	61575613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163698	61575613	181623760	2487	12804											
XPO1	7514	broad.mit.edu	37	chr2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtttccctttttacagttCgcatacttctaatcaatggt	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q|XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"exportin 1 (CRM1 homolog, yeast)"			L			CLL		1	Substitution - Missense(1)	p.R749Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2245-2247)cGa>cAa		exportin 1 (CRM1 homolog, yeast)							145	142	143					2																	61715367		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61715367C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	2.37:g.61715367C>T	ENSP00000384863:p.Arg749Gln					XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		19	2973	-			749					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2246G>A	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		78	498	0	0	0	1	0	78	498					T	61715367	C	T	61715367	3	4	79	1	0	0	0	0	1	0	0	0	17499	884	31	1	997	1	XPO1	2	61715367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139754	61715367	181484006	2488	12805											
FAM161A	84140	broad.mit.edu	37	chr2	62066556	62066556	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgcgtcctacttacttacCttacggcttgttctcgtcct	6	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000405894.3	-	3	1684	c.1583G>T	c.(1582-1584)aGa>aTa	p.R528I	FAM161A_ENST00000404929.1_Splice_Site_p.R528M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	528					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e3+1		family with sequence similarity 161, member A							71	74	73					2																	62066556		1960	4152	6112	SO:0001630	splice_region_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62066556C>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1583+1G>T	2.37:g.62066556C>A						FAM161A_ENST00000405894.3_Splice_Site_p.R528_splice	p.R528_splice	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1594	-			528					B4DJV7|Q9H8R2	Splice_Site	SNP	ENST00000405894.3	37	c.1583_splice	CCDS42687.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119840|4.119840	0.77323|0.77323	.|.	.|.	ENSG00000170264|ENSG00000170264	ENST00000405894|ENST00000404929	T|T	0.25912|0.26067	1.77|1.76	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.60495|0.60495	-0.7252|-0.7252	9|9	.|.	.|.	.|.	.|.	19.6789|19.6789	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|528	Q3B820|Q3B820-3	F161A_HUMAN|.	I|M	528|528	ENSP00000385893:R528I|ENSP00000385158:R528M	.|.	R|R	-|-	2|2	0|0	FAM161A|FAM161A	61920060|61920060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	6.295000|6.295000	0.72744|0.72744	2.736000|2.736000	0.93811|0.93811	0.643000|0.643000	0.83706|0.83706	AGA|AGG		0.463	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	Missense_Mutation	57	275	1	0	5.00936e-31	1	5.8875e-31	57	275					A	62066556	C	A	62066556	5	1	79	1	0	0	0	0	0	0	1	0	5493	695	24	3	415	3	FAM161A	2	62066556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351189	62066556	181132817	2489	12806											
FAM161A	84140	broad.mit.edu	37	chr2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcgaggaatgggtctgGctttaaatcgatttgttttc	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000405894.3	-	3	1171	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000404929.1_Missense_Mutation_p.A357V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	357					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1069-1071)gCc>gTc		family with sequence similarity 161, member A							121	117	118					2																	62067069		1863	4109	5972	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067069G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1070C>T	2.37:g.62067069G>A	ENSP00000385893:p.Ala357Val					FAM161A_ENST00000405894.3_Missense_Mutation_p.A357V	p.A357V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1081	-			357					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1070C>T	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304321	0.95601	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.050451	0.85682	D	0.000000	T	0.70518	0.3233	M	0.85373	2.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.9161	19.3967	0.94610	0.0:0.0:1.0:0.0	.	357;357	Q3B820;Q3B820-3	F161A_HUMAN;.	V	357	ENSP00000385158:A357V;ENSP00000385893:A357V	ENSP00000385158:A357V	A	-	2	0	FAM161A	61920573	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.973000	0.93428	2.665000	0.90641	0.655000	0.94253	GCC		0.418	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		70	768	0	0	0	1	0	70	768					A	62067069	G	A	62067069	3	1	79	1	0	0	0	0	1	0	0	0	5493	1203	42	2	928	2	FAM161A	2	62067069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513	62067069	181132304	2490	12807											
FAM161A	84140	broad.mit.edu	37	chr2	62067278	62067278	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaagacagatgcaggAactggattggctcggaattt	15	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000405894.3	-	3	962	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000404929.1_Silent_p.V287V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	287					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(859-861)gtT>gtA		family with sequence similarity 161, member A							161	150	153					2																	62067278		1843	4090	5933	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067278A>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.861T>A	2.37:g.62067278A>T						FAM161A_ENST00000405894.3_Silent_p.V287V	p.V287V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	872	-			287					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.861T>A	CCDS42687.2																																																																																				0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		154	780	0	0	0	1	0	154	780					T	62067278	A	T	62067278	2	4	79	1	0	0	0	0	0	0	0	1	5493	233	9	5		5	FAM161A	2	62067278	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	209	62067278	181132095	2491	12808											
COMMD1	150684	broad.mit.edu	37	chr2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctgagcgggctgctgaAtgcgctggcccaggacactt	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	17					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692																																						ENST00000311832.5																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(49-51)aAt>aCt		copper metabolism (Murr1) domain containing 1							21	24	23					2																	62132863		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132863A>C	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"copper metabolism gene MURR1"	607238	"chromosome 2 open reading frame 5 (MURR1)"	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.50A>C	2.37:g.62132863A>C	ENSP00000308236:p.Asn17Thr					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	82	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		17					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.50A>C	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099746	0.20552	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.10573	2.86;2.86	5.6	-3.72	0.04411	.	0.441952	0.26927	N	0.021794	T	0.10723	0.0262	L	0.61218	1.895	0.24354	N	0.994901	B	0.25486	0.127	B	0.36418	0.224	T	0.29971	-0.9994	10	0.72032	D	0.01	.	2.5888	0.04837	0.4597:0.1174:0.3032:0.1197	.	17	Q8N668	COMD1_HUMAN	T	17	ENSP00000308236:N17T;ENSP00000438961:N17T	ENSP00000308236:N17T	N	+	2	0	COMMD1	61986367	0.923000	0.31300	0.114000	0.21550	0.008000	0.06430	-0.100000	0.10990	-0.831000	0.04256	-0.912000	0.02778	AAT		0.692	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		33	64	0	0	0	1	0	33	64					C	62132863	A	C	62132863	3	2	79	1	0	0	0	0	1	0	0	0	3723	101	4	4	52	4	COMMD1	2	62132863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65585	62132863	181066510	2492	12809											
B3GNT2	10678	broad.mit.edu	37	chr2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaagagaagctgaacCggcagtacaaccccatcctg	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	68					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(202-204)Cgg>Tgg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							192	222	212					2																	62449557		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449557C>T	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.202C>T	2.37:g.62449557C>T	ENSP00000305595:p.Arg68Trp					B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	454	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		68					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.202C>T	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913331	0.17907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.29655	1.56;1.56	5.75	1.85	0.25348	.	0.860794	0.10728	N	0.640914	T	0.33904	0.0879	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38607	-0.9653	10	0.66056	D	0.02	.	15.42	0.75003	0.462:0.538:0.0:0.0	.	68	Q9NY97	B3GN2_HUMAN	W	68	ENSP00000305595:R68W;ENSP00000384692:R68W	ENSP00000305595:R68W	R	+	1	2	B3GNT2	62303061	0.000000	0.05858	0.449000	0.26957	0.907000	0.53573	-0.074000	0.11450	0.431000	0.26258	-0.262000	0.10625	CGG		0.512	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		608	1663	0	0	0	1	0	608	1663					T	62449557	C	T	62449557	3	4	79	1	0	0	0	0	1	0	0	0	1258	643	23	1	204	1	B3GNT2	2	62449557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316694	62449557	180749816	2493	12810											
OTX1	5013	broad.mit.edu	37	chr2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccctgacatcttcatgCgggaggaggtggcgctcaag	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(202-204)Cgg>Tgg		orthodenticle homeobox 1							82	81	82					2																	63281286		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63281286C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.202C>T	2.37:g.63281286C>T	ENSP00000282549:p.Arg68Trp					OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			4	478	+	Lung NSC(7;0.121)|all_lung(7;0.211)		68					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.202C>T	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG		0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			113	481	0	0	0	1	0	113	481					T	63281286	C	T	63281286	3	4	79	1	0	0	0	0	1	0	0	0	11362	759	27	1	208	1	OTX1	2	63281286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	831729	63281286	179918087	2494	12811											
OTX1	5013	broad.mit.edu	37	chr2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaattcacgccgccagCtgtgtccagctctgcctcgt	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	131					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGCCGCCAGCTGTGTCCAGC	0.677																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(391-393)gCt>gAt		orthodenticle homeobox 1							39	40	40					2																	63282778		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282778C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.392C>A	2.37:g.63282778C>A	ENSP00000282549:p.Ala131Asp					OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	668	+	Lung NSC(7;0.121)|all_lung(7;0.211)		131					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.392C>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838312	0.71373	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90676	-2.71;-2.71	3.69	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.54323	1.7	0.58432	D	0.999999	P	0.42757	0.789	B	0.42882	0.401	D	0.88174	0.2866	10	0.35671	T	0.21	.	14.6986	0.69139	0.0:1.0:0.0:0.0	.	131	P32242	OTX1_HUMAN	D	131	ENSP00000355631:A131D;ENSP00000282549:A131D	ENSP00000282549:A131D	A	+	2	0	OTX1	63136282	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.706000	0.61845	2.062000	0.61559	0.563000	0.77884	GCT		0.677	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			86	266	1	0	5.56462e-29	1	6.49283e-29	86	266					A	63282778	C	A	63282778	3	1	79	1	0	0	0	0	1	0	0	0	11362	797	28	3	402	3	OTX1	2	63282778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1492	63282778	179916595	2495	12812											
OTX1	5013	broad.mit.edu	37	chr2	63283061	63283061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttatcccatgtcctaCggccagggcggcagctacgg	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	225					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATGTCCTACGGCCAGGGCG	0.652																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(673-675)taC>taT		orthodenticle homeobox 1							38	39	39					2																	63283061		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283061C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.675C>T	2.37:g.63283061C>T						OTX1_ENST00000366671.3_Silent_p.Y225Y	p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	951	+	Lung NSC(7;0.121)|all_lung(7;0.211)		225					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.675C>T	CCDS1873.1																																																																																				0.652	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			104	337	0	0	0	1	0	104	337					T	63283061	C	T	63283061	2	4	79	1	0	0	0	0	0	0	0	1	11362	547	19	1		1	OTX1	2	63283061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	63283061	179916312	2496	12813											
OTX1	5013	broad.mit.edu	37	chr2	63283199	63283199	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccatggcaccctcctcCatggcgggccaccatcatca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	271					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CACCCTCCTCCATGGCGGGCC	0.637																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(811-813)tcC>tcA		orthodenticle homeobox 1							135	119	124					2																	63283199		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283199C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.813C>A	2.37:g.63283199C>A						OTX1_ENST00000366671.3_Silent_p.S271S	p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1089	+	Lung NSC(7;0.121)|all_lung(7;0.211)		271					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.813C>A	CCDS1873.1																																																																																				0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			248	776	1	0	8.70135e-78	1	1.11109e-77	248	776					A	63283199	C	A	63283199	2	1	79	1	0	0	0	0	0	0	0	1	11362	581	21	3		3	OTX1	2	63283199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	63283199	179916174	2497	12814											
C2orf86	51057	broad.mit.edu	37	chr2	63815400	63815400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccagcaaaactctcgCctcatcaccagacactaccc	5	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63815400C>T	ENST00000272321.7	-	1	533	c.6G>A	c.(4-6)agG>agA	p.R2R	MDH1_ENST00000539945.1_5'Flank|WDPCP_ENST00000409562.3_Silent_p.R2R|MDH1_ENST00000544381.1_5'Flank|MDH1_ENST00000233114.8_5'Flank|WDPCP_ENST00000409835.1_5'UTR|MDH1_ENST00000409476.1_5'Flank|MDH1_ENST00000409908.1_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	2					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAAACTCTCGCCTCATCACCA	0.642																																						ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(4-6)agG>agA		WD repeat containing planar cell polarity effector							25	30	28					2																	63815400		1987	4162	6149	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63815400C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.6G>A	2.37:g.63815400C>T						WDPCP_ENST00000272321.7_Silent_p.R2R|WDPCP_ENST00000409835.1_5'UTR	p.R2R			O95876	FRITZ_HUMAN			1	252	-			2					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.6G>A	CCDS42688.1																																																																																				0.642	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		10	34	0	0	0	1	0	10	34					T	63815400	C	T	63815400	2	4	79	1	0	0	0	0	0	0	0	1	2208	738	26	2		2	C2orf86	2	63815400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532201	63815400	179383973	2498	12815											
UGP2	7360	broad.mit.edu	37	chr2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcctgataatatatcttCcgtgttgaacaaactagtgg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000337130.5	+	4	784	c.308C>T	c.(307-309)tCc>tTc	p.S103F	UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000487469.1_3'UTR	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	103					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(307-309)tCc>tTc		UDP-glucose pyrophosphorylase 2							107	113	111					2																	64109652		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64109652C>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.308C>T	2.37:g.64109652C>T	ENSP00000338703:p.Ser103Phe					UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F	p.S103F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			4	784	+			103					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.308C>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337641	0.81911	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.77	5.77	0.91146	.	0.270254	0.42682	D	0.000663	T	0.34424	0.0897	L	0.61036	1.89	0.80722	D	1	P;P	0.41710	0.76;0.64	P;P	0.45474	0.482;0.482	T	0.04579	-1.0941	10	0.72032	D	0.01	-6.8018	19.9915	0.97366	0.0:1.0:0.0:0.0	.	112;103	E7EUC7;Q16851	.;UGPA_HUMAN	F	92;92;92;103;92;95;112;92;92;92	ENSP00000377939:S92F;ENSP00000419548:S92F;ENSP00000420793:S92F;ENSP00000338703:S103F;ENSP00000419442:S92F;ENSP00000420131:S95F;ENSP00000411803:S112F;ENSP00000419335:S92F;ENSP00000420342:S92F;ENSP00000419238:S92F	ENSP00000338703:S103F	S	+	2	0	UGP2	63963156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.723000	0.93209	0.655000	0.94253	TCC		0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		90	523	0	0	0	1	0	90	523					T	64109652	C	T	64109652	3	4	79	1	0	0	0	0	1	0	0	0	16997	855	30	2	322	2	UGP2	2	64109652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294252	64109652	179089721	2499	12816											
AFTPH	54812	broad.mit.edu	37	chr2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatttaaataaagtagTggagcagagacagaatgttg	12	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000422803.1	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	138					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAGTAGTGGAGCAGAGA	0.358																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(412-414)gTg>gGg		aftiphilin							40	42	41					2																	64779021		2203	4297	6500	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779021T>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.413T>G	2.37:g.64779021T>G	ENSP00000397726:p.Val138Gly					AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G	p.V138G			Q6ULP2	AFTIN_HUMAN			2	727	+			138					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.413T>G		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917286	0.02415	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	1.38	0.22167	.	1.620940	0.03161	N	0.169284	T	0.20659	0.0497	N	0.16478	0.41	0.09310	N	0.999995	B;B;P;P	0.42203	0.001;0.001;0.773;0.773	B;B;B;B	0.41894	0.001;0.002;0.369;0.369	T	0.11372	-1.0590	10	0.38643	T	0.18	6.6229	2.3047	0.04171	0.2423:0.0768:0.1397:0.5412	.	138;138;138;138	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	138	ENSP00000238856:V138G;ENSP00000397726:V138G;ENSP00000238855:V138G;ENSP00000387071:V138G	ENSP00000238855:V138G	V	+	2	0	AFTPH	64632525	0.906000	0.30813	0.039000	0.18376	0.810000	0.45777	0.543000	0.23237	0.422000	0.26005	0.482000	0.46254	GTG		0.358	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		57	305	0	0	0	1	0	57	305					G	64779021	T	G	64779021	3	3	79	1	0	0	0	0	1	0	0	0	364	1696	59	4	415	4	AFTPH	2	64779021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	669369	64779021	178420352	2500	12817											
AFTPH	54812	broad.mit.edu	37	chr2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaggtgttcagtcaaaGgcttggagtttggtagactc	13	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000422803.1	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	333					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCAGTCAAAGGCTTGGAGTT	0.383																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(997-999)aaG>aaT		aftiphilin							99	103	102					2																	64779607		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779607G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.999G>T	2.37:g.64779607G>T	ENSP00000397726:p.Lys333Asn					AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N	p.K333N			Q6ULP2	AFTIN_HUMAN			2	1313	+			333					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.999G>T		.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457507	0.04508	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.47	3.55	0.40652	.	0.943333	0.08875	N	0.880981	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26809	0.001;0.001;0.001;0.16	B;B;B;B	0.24701	0.001;0.001;0.001;0.055	T	0.31392	-0.9945	10	0.17832	T	0.49	1.9068	3.7104	0.08417	0.1505:0.0:0.5355:0.314	.	333;333;333;333	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	N	333	ENSP00000238856:K333N;ENSP00000397726:K333N;ENSP00000238855:K333N;ENSP00000387071:K333N	ENSP00000238855:K333N	K	+	3	2	AFTPH	64633111	0.986000	0.35501	0.317000	0.25265	0.965000	0.64279	1.792000	0.38754	1.405000	0.46838	0.585000	0.79938	AAG		0.383	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		72	485	1	0	9.12251e-31	1	1.07152e-30	72	485					T	64779607	G	T	64779607	3	4	79	1	0	0	0	0	1	0	0	0	364	991	35	3	1001	3	AFTPH	2	64779607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	64779607	178419766	2501	12818											
SERTAD2	9792	broad.mit.edu	37	chr2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttgagtcatctgcgcggCtctcttgaggaccgtcgagt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	214					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(640-642)aGc>aTc		SERTA domain containing 2							66	69	68					2																	64863365		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863365C>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.641G>T	2.37:g.64863365C>A	ENSP00000326933:p.Ser214Ile						p.S214I	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	938	-			214					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.641G>T	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883156	0.17467	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.63	5.63	0.86233	.	0.574803	0.20833	N	0.084854	T	0.46367	0.1389	L	0.27053	0.805	0.51482	D	0.999923	B	0.34103	0.437	B	0.23852	0.049	T	0.48917	-0.8992	9	0.56958	D	0.05	0.7719	19.6719	0.95915	0.0:1.0:0.0:0.0	.	214	Q14140	SRTD2_HUMAN	I	214	.	ENSP00000326933:S214I	S	-	2	0	SERTAD2	64716869	0.996000	0.38824	0.995000	0.50966	0.285000	0.27093	2.509000	0.45459	2.647000	0.89833	0.655000	0.94253	AGC		0.567	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		105	443	1	0	2.68928e-46	1	3.30219e-46	105	443					A	64863365	C	A	64863365	3	1	79	1	0	0	0	0	1	0	0	0	14171	797	28	3	307	3	SERTAD2	2	64863365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83758	64863365	178336008	2502	12819											
SERTAD2	9792	broad.mit.edu	37	chr2	64863673	64863673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtgggaggacggggaCgccaggtggctgaaggccgg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	111					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(331-333)gcG>gcA		SERTA domain containing 2							33	36	35					2																	64863673		2203	4299	6502	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863673C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.333G>A	2.37:g.64863673C>T						SERTAD2_ENST00000476805.1_5'UTR	p.A111A	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	630	-			111					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.333G>A	CCDS33210.1																																																																																				0.692	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		81	202	0	0	0	1	0	81	202					T	64863673	C	T	64863673	2	4	79	1	0	0	0	0	0	0	0	1	14171	523	19	1		1	SERTAD2	2	64863673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	64863673	178335700	2503	12820											
SERTAD2	9792	broad.mit.edu	37	chr2	64863943	64863943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccgtcacagggagacacGattttgccttccagcccatc	10	14	1	1	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468													G|||	27	0.00539137	0.0204	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.0					ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(61-63)atC>atT		SERTA domain containing 2		G		73,4333	64.7+/-102.0	0,73,2130	151	136	141		63	-1.6	0.9	2	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous	SERTAD2	NM_014755.2		0,73,6430	AA,AG,GG		0.0,1.6568,0.5613		21/315	64863943	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863943G>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.63C>T	2.37:g.64863943G>A						SERTAD2_ENST00000476805.1_5'UTR	p.I21I	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	360	-			21					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.63C>T	CCDS33210.1																																																																																				0.468	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		131	586	0	0	0	1	0	131	586					A	64863943	G	A	64863943	2	1	79	1	0	0	0	0	0	0	0	1	14171	1048	37	1		1	SERTAD2	2	64863943	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	64863943	178335430	2504	12821											
SLC1A4	6509	broad.mit.edu	37	chr2	65243637	65243637	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaaatgaaagacatcatCgtgctggtgaccagcctggg	14	8	1	3	rs202237988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	288					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(862-864)atC>atT		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	C	,	1,4405	2.1+/-5.4	0,1,2202	205	189	194		,864	-3.2	0	2		194	1,8599	1.2+/-3.3	0,1,4299	yes	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	,288/533	65243637	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243637C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.864C>T	2.37:g.65243637C>T						SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	p.I288I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1107	+			288					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.864C>T	CCDS1879.1																																																																																				0.458	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		65	661	0	0	0	1	0	65	661					T	65243637	C	T	65243637	2	4	79	1	0	0	0	0	0	0	0	1	14484	874	31	1		1	SLC1A4	2	65243637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379694	65243637	177955736	2505	12822											
CEP68	23177	broad.mit.edu	37	chr2	65296585	65296585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagggagtctcaatggccCtgggtgaagaaaaggcagaa	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000377990.2	+	2	210	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000260569.4_Silent_p.L3L|CEP68_ENST00000537589.1_Intron|RAB1A_ENST00000494188.1_5'Flank	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	3					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(7-9)Ctg>Ttg		centrosomal protein 68kDa							69	81	77					2																	65296585		2197	4274	6471	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65296585C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.7C>T	2.37:g.65296585C>T						CEP68_ENST00000260569.4_Silent_p.L3L|CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000537589.1_Intron	p.L3L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			2	210	+			3					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.7C>T	CCDS1880.2																																																																																				0.527	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		86	559	0	0	0	1	0	86	559					T	65296585	C	T	65296585	2	4	79	1	0	0	0	0	0	0	0	1	3267	680	24	2		2	CEP68	2	65296585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52948	65296585	177902788	2506	12823											
CEP68	23177	broad.mit.edu	37	chr2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccagcagcctcacaGctcaggtctctcttgcctgt	8	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000377990.2	+	3	718	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	172					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(514-516)aGc>aAc		centrosomal protein 68kDa							90	77	81					2																	65298745		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298745G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.515G>A	2.37:g.65298745G>A	ENSP00000367229:p.Ser172Asn					CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR	p.S172N	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	718	+			172					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.515G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467144	0.26335	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13778	2.56;2.56;2.56	5.8	-3.97	0.04094	.	1.223130	0.05650	N	0.584966	T	0.05090	0.0136	N	0.08118	0	0.26175	N	0.979806	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.001;0.001;0.003	T	0.38286	-0.9668	10	0.23302	T	0.38	1.135	1.0509	0.01579	0.1817:0.2118:0.3139:0.2926	.	160;172;172;172;172	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	N	172;172;172;160	ENSP00000367229:S172N;ENSP00000438306:S172N;ENSP00000260569:S172N	ENSP00000260569:S172N	S	+	2	0	CEP68	65152249	0.000000	0.05858	0.037000	0.18230	0.657000	0.38888	-0.854000	0.04299	-0.389000	0.07786	0.655000	0.94253	AGC		0.562	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		95	266	0	0	0	1	0	95	266					A	65298745	G	A	65298745	3	1	79	1	0	0	0	0	1	0	0	0	3267	971	34	2	521	2	CEP68	2	65298745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2160	65298745	177900628	2507	12824											
SPRED2	200734	broad.mit.edu	37	chr2	65540683	65540683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctgcacatcactccGcagtggtagcaggcccgaag	11	15	1	0	rs369939169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	403	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATCACTCCGCAGTGGTAGC	0.607																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1207-1209)tgC>tgT		sprouty-related, EVH1 domain containing 2		G	,	0,4406		0,0,2203	66	68	67		1200,1209	-0.1	0.9	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPRED2	NM_001128210.1,NM_181784.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	400/416,403/419	65540683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540683G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1209C>T	2.37:g.65540683G>A						SPRED2_ENST00000443619.2_Silent_p.C400C	p.C403C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1398	-			403			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.1209C>T	CCDS33211.1																																																																																				0.607	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			63	394	0	0	0	1	0	63	394					A	65540683	G	A	65540683	2	1	79	1	0	0	0	0	0	0	0	1	15145	1079	38	1		1	SPRED2	2	65540683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241938	65540683	177658690	2508	12825											
SPRED2	200734	broad.mit.edu	37	chr2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttctcacggagtcgggcGcgtcctggcagtggccccgg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	329	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCGGGCGCGTCCTGGCA	0.642																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(985-987)gCg>gTg		sprouty-related, EVH1 domain containing 2							81	80	80					2																	65540906		2203	4299	6502	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540906G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.986C>T	2.37:g.65540906G>A	ENSP00000348753:p.Ala329Val					SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V	p.A329V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1175	-			329			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.986C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139092	0.94560	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88075	0.2803	10	0.87932	D	0	-13.311	14.8468	0.70267	0.0687:0.0:0.9313:0.0	.	326;329	E9PEP0;Q7Z698	.;SPRE2_HUMAN	V	329;326;344;211	ENSP00000348753:A329V;ENSP00000393697:A326V;ENSP00000390595:A344V;ENSP00000407627:A211V	ENSP00000348753:A329V	A	-	2	0	SPRED2	65394410	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.869000	0.99810	1.444000	0.47605	0.655000	0.94253	GCG		0.642	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			220	601	0	0	0	1	0	220	601					A	65540906	G	A	65540906	3	1	79	1	0	0	0	0	1	0	0	0	15145	1087	38	1	274	1	SPRED2	2	65540906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223	65540906	177658467	2509	12826											
ETAA1	54465	broad.mit.edu	37	chr2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtcaagaagaagaacTtatgaaactggctaaacaat	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	191						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGAAGAACTTATGAAACTG	0.264																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(571-573)cTt>cGt		Ewing tumor-associated antigen 1							25	30	28					2																	67630386		2140	4258	6398	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630386T>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.572T>G	2.37:g.67630386T>G	ENSP00000272342:p.Leu191Arg					ETAA1_ENST00000462772.1_Intron	p.L191R	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	702	+			191					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.572T>G	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719812	0.68844	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.87932	D	0	-27.5494	15.9872	0.80168	0.0:0.0:0.0:1.0	.	191	Q9NY74	ETAA1_HUMAN	R	191	ENSP00000272342:L191R	ENSP00000272342:L191R	L	+	2	0	ETAA1	67483890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	CTT		0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		34	189	0	0	0	1	0	34	189					G	67630386	T	G	67630386	3	3	79	1	0	0	0	0	1	0	0	0	5285	1609	56	4	590	4	ETAA1	2	67630386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2089480	67630386	175568987	2510	12827											
ETAA1	54465	broad.mit.edu	37	chr2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaaacatgtttgctatatCtaaacaaggaagtaatttgg	7	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	683						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTGCTATATCTAAACAAGGA	0.353																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2047-2049)tCt>tTt		Ewing tumor-associated antigen 1							82	85	84					2																	67631862		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631862C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2048C>T	2.37:g.67631862C>T	ENSP00000272342:p.Ser683Phe					ETAA1_ENST00000462772.1_Intron	p.S683F	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2178	+			683					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2048C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835227	0.71373	.	.	ENSG00000143971	ENST00000272342	T	0.26810	1.71	5.7	4.83	0.62350	.	0.550372	0.19256	N	0.118798	T	0.28300	0.0699	L	0.59436	1.845	0.25308	N	0.989222	B	0.27140	0.169	B	0.28553	0.091	T	0.23476	-1.0187	10	0.72032	D	0.01	-0.3088	11.9379	0.52884	0.0:0.9203:0.0:0.0797	.	683	Q9NY74	ETAA1_HUMAN	F	683	ENSP00000272342:S683F	ENSP00000272342:S683F	S	+	2	0	ETAA1	67485366	0.998000	0.40836	0.817000	0.32601	0.075000	0.17131	1.646000	0.37249	1.415000	0.47037	0.563000	0.77884	TCT		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		79	354	0	0	0	1	0	79	354					T	67631862	C	T	67631862	3	4	79	1	0	0	0	0	1	0	0	0	5285	913	32	2	2066	2	ETAA1	2	67631862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1476	67631862	175567511	2511	12828											
C1D	10438	broad.mit.edu	37	chr2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaataccttctgcaacaactCatttctagaaacagacatca	3	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000355848.3	-	2	171	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_ENST00000470189.2_5'Flank|C1D_ENST00000407324.1_Missense_Mutation_p.E81K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000409302.1_Missense_Mutation_p.E42K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	42	Required for transcriptional repression. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328																																						ENST00000355848.3																			0				lung(2)|urinary_tract(1)	3						c.(124-126)Gag>Aag		C1D nuclear receptor corepressor							53	52	52					2																	68274319		2203	4299	6502	SO:0001583	missense	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68274319C>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"small unique nuclear receptor co-repressor"	606997	"C1D nuclear receptor co-repressor"			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.124G>A	2.37:g.68274319C>T	ENSP00000348107:p.Glu42Lys					C1D_ENST00000409302.1_Missense_Mutation_p.E42K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000407324.1_Missense_Mutation_p.E81K	p.E42K			Q13901	C1D_HUMAN			2	171	-			42			Required for transcriptional repression (By similarity).		A8K336|D6W5F8|Q05D64	Missense_Mutation	SNP	ENST00000355848.3	37	c.124G>A	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066926	0.93898	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.52754	0.68;0.65;0.68;0.68	5.29	5.29	0.74685	.	0.091917	0.85682	D	0.000000	T	0.59059	0.2166	M	0.80982	2.52	0.80722	D	1	P	0.43938	0.822	P	0.45276	0.475	T	0.61496	-0.7051	10	0.37606	T	0.19	-21.2335	19.2911	0.94100	0.0:1.0:0.0:0.0	.	42	Q13901	C1D_HUMAN	K	42;81;42;42	ENSP00000348107:E42K;ENSP00000384304:E81K;ENSP00000386468:E42K;ENSP00000386779:E42K	ENSP00000348107:E42K	E	-	1	0	C1D	68127823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.129000	0.64739	2.651000	0.90000	0.491000	0.48974	GAG		0.328	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		41	263	0	0	0	1	0	41	263					T	68274319	C	T	68274319	3	4	79	1	0	0	0	0	1	0	0	0	1958	835	29	2	317	2	C1D	2	68274319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	642457	68274319	174925054	2512	12829											
WDR92	116143	broad.mit.edu	37	chr2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgccacacagtagatTtatgagcctaaatagaacaa	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	259					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(775-777)aAa>aCa		WD repeat domain 92							33	38	36					2																	68361924		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68361924T>G	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.776A>C	2.37:g.68361924T>G	ENSP00000295121:p.Lys259Thr					WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	p.K259T	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			7	892	-			259					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.776A>C	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.341843|3.341843	0.61073|0.61073	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	D;T;T|.	0.90563|.	-2.69;1.63;-0.13|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	B|.	0.31931|.	0.347|.	B|.	0.31686|.	0.134|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.26408|.	T|.	0.33|.	.|.	14.4531|14.4531	0.67399|0.67399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q96MX6|.	WDR92_HUMAN|.	T|H	259;158;259|63	ENSP00000295121:K259T;ENSP00000384518:K158T;ENSP00000386746:K259T|.	ENSP00000295121:K259T|.	K|N	-|-	2|1	0|0	WDR92|WDR92	68215428|68215428	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.909000|0.909000	0.53808|0.53808	8.040000|8.040000	0.89188|0.89188	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.473	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		55	284	0	0	0	1	0	55	284					G	68361924	T	G	68361924	3	3	79	1	0	0	0	0	1	0	0	0	17393	1841	64	4	305	4	WDR92	2	68361924	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87605	68361924	174837449	2513	12830											
PNO1	56902	broad.mit.edu	37	chr2	68385624	68385624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatttgggacttcagaTacgctttaacttgaaatcaa	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68385624T>C	ENST00000263657.2	+	2	411	c.320T>C	c.(319-321)aTa>aCa	p.I107T	WDR92_ENST00000492039.2_5'Flank|WDR92_ENST00000409164.1_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000406245.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GGACTTCAGATACGCTTTAAC	0.383																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(319-321)aTa>aCa		partner of NOB1 homolog (S. cerevisiae)							101	101	101					2																	68385624		2203	4300	6503	SO:0001583	missense	56902					nucleolus	RNA binding	g.chr2:68385624T>C	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.320T>C	2.37:g.68385624T>C	ENSP00000263657:p.Ile107Thr						p.I107T	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			2	411	+			107					A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	c.320T>C	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718664	0.89205	.	.	ENSG00000115946	ENST00000263657	T	0.46819	0.86	6.02	6.02	0.97574	.	0.045125	0.85682	D	0.000000	T	0.66896	0.2836	M	0.78344	2.41	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.71351	-0.4619	10	0.87932	D	0	-13.3743	16.542	0.84395	0.0:0.0:0.0:1.0	.	107	Q9NRX1	PNO1_HUMAN	T	107	ENSP00000263657:I107T	ENSP00000263657:I107T	I	+	2	0	PNO1	68239128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.882000	0.87258	2.304000	0.77564	0.528000	0.53228	ATA		0.383	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		11	401	0	0	0	1	0	11	401					C	68385624	T	C	68385624	3	2	79	1	0	0	0	0	1	0	0	0	12203	1406	49	4	326	4	PNO1	2	68385624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23700	68385624	174813749	2514	12831											
PLEK	5341	broad.mit.edu	37	chr2	68607924	68607924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagccttcctggaggagagaGatgcctgggttcgggatatc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68607924G>A	ENST00000234313.7	+	3	447	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	90	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAGGAGAGAGATGCCTGGGT	0.463																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(268-270)Gat>Aat		pleckstrin							131	131	131					2																	68607924		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607924G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.268G>A	2.37:g.68607924G>A	ENSP00000234313:p.Asp90Asn						p.D90N	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	447	+		Ovarian(717;0.0129)	90			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.268G>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	35	5.567226	0.96540	.	.	ENSG00000115956	ENST00000234313	T	0.74106	-0.81	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.042262	0.85682	D	0.000000	T	0.79281	0.4419	L	0.37697	1.125	0.80722	D	1	P;P	0.48764	0.915;0.702	P;P	0.55615	0.78;0.738	T	0.80146	-0.1504	10	0.72032	D	0.01	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	108;90	Q59GZ2;P08567	.;PLEK_HUMAN	N	90	ENSP00000234313:D90N	ENSP00000234313:D90N	D	+	1	0	PLEK	68461428	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.750000	0.94351	0.655000	0.94253	GAT		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		11	812	0	0	0	1	0	11	812					A	68607924	G	A	68607924	3	1	79	1	0	0	0	0	1	0	0	0	12095	942	33	2	278	2	PLEK	2	68607924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222300	68607924	174591449	2515	12832											
FBXO48	554251	broad.mit.edu	37	chr2	68691350	68691350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttccccttatctttcCagttctgcttctagaatttc	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	153										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(457-459)ctG>ctA		F-box protein 48							207	205	206					2																	68691350		2203	4300	6503	SO:0001819	synonymous_variant	554251							g.chr2:68691350C>T	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"F-boxes /  "other""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.459G>A	2.37:g.68691350C>T							p.L153L	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN			4	866	-			153						Silent	SNP	ENST00000377957.3	37	c.459G>A	CCDS33213.1																																																																																				0.368	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		77	907	0	0	0	1	0	77	907					T	68691350	C	T	68691350	2	4	79	1	0	0	0	0	0	0	0	1	5782	581	21	2		2	FBXO48	2	68691350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83426	68691350	174508023	2516	12833											
APLF	200558	broad.mit.edu	37	chr2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaggtaatgtaatccagGgaagtggaaaagaagaaatc	11	3	0	2	rs542229761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	213					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		16825	0.0		0.0	False		,,,				2504	0.001					ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(637-639)Gga>Aga		aprataxin and PNKP like factor							55	58	57					2																	68753207		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68753207G>A	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.637G>A	2.37:g.68753207G>A	ENSP00000307004:p.Gly213Arg						p.G213R	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			6	808	+			213					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.637G>A	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	g	1.081	-0.666915	0.03428	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	4.29	-0.604	0.11626	.	1.283240	0.04864	N	0.444746	T	0.12902	0.0313	L	0.28274	0.84	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.001	T	0.29119	-1.0022	10	0.07030	T	0.85	.	7.258	0.26187	0.5238:0.0:0.4762:0.0	.	213;213	F8WET0;Q8IW19	.;APLF_HUMAN	R	213	ENSP00000307004:G213R	ENSP00000307004:G213R	G	+	1	0	APLF	68606711	0.010000	0.17322	0.050000	0.19076	0.897000	0.52465	0.484000	0.22308	-0.120000	0.11809	0.585000	0.79938	GGA		0.308	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		69	224	0	0	0	1	0	69	224					A	68753207	G	A	68753207	3	1	79	1	0	0	0	0	1	0	0	0	776	1233	43	2	659	2	APLF	2	68753207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61857	68753207	174446166	2517	12834											
PROKR1	10887	broad.mit.edu	37	chr2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgttctttgctgccaagaTtgtcattgggatggccctgg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	63					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(187-189)aTt>aCt		prokineticin receptor 1							229	199	209					2																	68873141		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873141T>C	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.188T>C	2.37:g.68873141T>C	ENSP00000303775:p.Ile63Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T	p.I63T			Q8TCW9	PKR1_HUMAN			2	608	+			63					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.188T>C	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495363	0.64186	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38240	1.15;1.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.67397	2.05	0.58432	D	0.999993	P	0.38250	0.624	B	0.40864	0.342	T	0.27971	-1.0058	10	0.36615	T	0.2	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	63	Q8TCW9	PKR1_HUMAN	T	63	ENSP00000303775:I63T;ENSP00000377874:I63T	ENSP00000303775:I63T	I	+	2	0	PROKR1	68726645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.539000	0.67199	2.330000	0.79161	0.528000	0.53228	ATT		0.507	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			222	606	0	0	0	1	0	222	606					C	68873141	T	C	68873141	3	2	79	1	0	0	0	0	1	0	0	0	12599	1493	52	4	190	4	PROKR1	2	68873141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119934	68873141	174326232	2518	12835											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002401	69002401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatggctgccttccatcCatcgtccacccccaacccgc	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002401C>T	ENST00000295381.3	+	2	529	c.110C>T	c.(109-111)cCa>cTa	p.P37L	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	37					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.P30Q(1)|p.P37Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTTCCATCCATCGTCCACC	0.587																																						ENST00000295381.3																			2	Substitution - Missense(2)	p.P30Q(1)|p.P37Q(1)	lung(2)	breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(109-111)cCa>cTa		Rho GTPase activating protein 25							209	213	212					2																	69002401		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002401C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.110C>T	2.37:g.69002401C>T	ENSP00000295381:p.Pro37Leu					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L	p.P37L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	529	+			37					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	C	7.076	0.569233	0.13560	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.58	-1.26	0.09376	.	0.906472	0.09590	N	0.781656	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0;0.001;0.001	T	0.44128	-0.9348	10	0.10377	T	0.69	.	2.1211	0.03726	0.2139:0.4204:0.0978:0.2679	.	37;11;37;30;30;30;37	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	L	11;37;37;37;30;30;30;30;30	ENSP00000439917:P11L;ENSP00000295381:P37L;ENSP00000386911:P37L;ENSP00000420583:P37L;ENSP00000386863:P30L;ENSP00000386241:P30L;ENSP00000417139:P30L	ENSP00000295381:P37L	P	+	2	0	ARHGAP25	68855905	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.469000	0.02348	-0.116000	0.11893	-0.253000	0.11424	CCA		0.587	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		27	1574	0	0	0	1	0	27	1574					T	69002401	C	T	69002401	3	4	79	1	0	0	0	0	1	0	0	0	874	594	21	2	156	2	ARHGAP25	2	69002401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129260	69002401	174196972	2519	12836											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctggctgaagaagcagaGgtccatcgtgaagaactggc	16	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000295381.3	+	2	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(169-171)aGg>aTg		Rho GTPase activating protein 25							160	168	165					2																	69002461		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002461G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.170G>T	2.37:g.69002461G>T	ENSP00000295381:p.Arg57Met					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M	p.R57M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	589	+			57			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.170G>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346716	0.82022	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048467	0.64402	D	0.000001	T	0.41949	0.1181	M	0.88450	2.955	0.44562	D	0.997521	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.77004	0.989;0.97;0.983;0.983;0.983;0.963;0.989	T	0.41574	-0.9501	10	0.59425	D	0.04	.	11.5985	0.50988	0.0822:0.0:0.9178:0.0	.	57;31;57;50;50;50;57	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	31;57;57;57;50;50;50;50;50	ENSP00000439917:R31M;ENSP00000295381:R57M;ENSP00000386911:R57M;ENSP00000420583:R57M;ENSP00000386863:R50M;ENSP00000386241:R50M;ENSP00000417139:R50M	ENSP00000295381:R57M	R	+	2	0	ARHGAP25	68855965	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.672000	0.83956	2.613000	0.88420	0.563000	0.77884	AGG		0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		269	728	1	0	2.40599e-113	1	3.09752e-113	269	728					T	69002461	G	T	69002461	3	4	79	1	0	0	0	0	1	0	0	0	874	1000	35	3	216	3	ARHGAP25	2	69002461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	69002461	174196912	2520	12837											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcccagaaaaatgaccCcaagaaagctccagtggccc	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000295381.3	+	9	1528	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	370					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1108-1110)cCc>cTc		Rho GTPase activating protein 25							106	114	111					2																	69046363		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046363C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1109C>T	2.37:g.69046363C>T	ENSP00000295381:p.Pro370Leu					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L	p.P370L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1528	+			370					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1109C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254697|2.254697	0.39896|0.39896	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|T	0.18016|0.15487	2.7;2.7;2.43;2.7;2.7;2.61;2.24|2.42	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.757438|0.757438	0.13147|0.13147	N|N	0.410145|0.410145	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28933|.	0.029;0.178;0.178;0.178;0.228;0.016|.	B;B;B;B;B;B|.	0.27796|.	0.01;0.036;0.058;0.058;0.083;0.003|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|8	0.11485|0.06365	T|T	0.65|0.9	.|.	6.1119|6.1119	0.20106|0.20106	0.3332:0.5798:0.0:0.0869|0.3332:0.5798:0.0:0.0869	.|.	331;371;364;363;364;370|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	L|S	370;371;331;363;364;364;364;355;64|230	ENSP00000295381:P370L;ENSP00000386911:P371L;ENSP00000420583:P331L;ENSP00000386863:P363L;ENSP00000386241:P364L;ENSP00000417139:P364L;ENSP00000417467:P64L|ENSP00000417818:P230S	ENSP00000295381:P370L|ENSP00000417818:P230S	P|P	+|+	2|1	0|0	ARHGAP25|ARHGAP25	68899867|68899867	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.766000|0.766000	0.26560|0.26560	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		114	702	0	0	0	1	0	114	702					T	69046363	C	T	69046363	3	4	79	1	0	0	0	0	1	0	0	0	874	623	22	2	1186	2	ARHGAP25	2	69046363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43902	69046363	174153010	2521	12838											
GFPT1	2673	broad.mit.edu	37	chr2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctcactctacagtcacaGatttggcaagattccgtggg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000357308.4	-	20	2262	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	695					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(2083-2085)tCt>tAt		glutamine--fructose-6-phosphate transaminase 1							89	89	89					2																	69553337		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69553337G>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2084C>A	2.37:g.69553337G>T	ENSP00000349860:p.Ser695Tyr					GFPT1_ENST00000361060.4_Missense_Mutation_p.S677Y	p.S695Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			20	2262	-			695					Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.2084C>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743510	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95518	0.8592	10	0.87932	D	0	-17.7389	18.5783	0.91163	0.0:0.0:1.0:0.0	.	677	Q06210-2	.	Y	695;677	ENSP00000349860:S695Y;ENSP00000354347:S677Y	ENSP00000349860:S695Y	S	-	2	0	GFPT1	69406841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.596000	0.98267	2.854000	0.98071	0.655000	0.94253	TCT		0.333	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				31	101	1	0	3.33393e-15	1	3.63836e-15	31	101					T	69553337	G	T	69553337	3	4	79	1	0	0	0	0	1	0	0	0	6374	942	33	3	19	3	GFPT1	2	69553337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506974	69553337	173646036	2522	12839											
SNRNP27	11017	broad.mit.edu	37	chr2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacaaagagcaaagaaCggcagattactggtaatgtt	10	5	0	4	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328																																						ENST00000244227.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(256-258)Cgg>Tgg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)		C	TRP/ARG	9,4389	15.5+/-35.6	0,9,2190	42	44	44		256	5.3	1	2	dbSNP_134	44	0,8598		0,0,4299	yes	missense	SNRNP27	NM_006857.2	101	0,9,6489	TT,TC,CC		0.0,0.2046,0.0693	probably-damaging	86/156	70123668	9,12987	2199	4299	6498	SO:0001583	missense	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70123668C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.256C>T	2.37:g.70123668C>T	ENSP00000244227:p.Arg86Trp					SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			3	681	+			86					Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	c.256C>T	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696442	0.48202	0.002046	0.0	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.31247	1.5;1.5	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.50171	0.1600	L	0.55990	1.75	0.49915	D	0.999831	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.898	T	0.46624	-0.9178	10	0.66056	D	0.02	.	14.285	0.66240	0.0:1.0:0.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	86	ENSP00000244227:R86W;ENSP00000386608:R86W	ENSP00000244227:R86W	R	+	1	2	SNRNP27	69977172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.920000	0.40025	2.750000	0.94351	0.585000	0.79938	CGG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		29	151	0	0	0	1	0	29	151					T	70123668	C	T	70123668	3	4	79	1	0	0	0	0	1	0	0	0	14904	527	19	1	266	1	SNRNP27	2	70123668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570331	70123668	173075705	2523	12840											
MXD1	4084	broad.mit.edu	37	chr2	70165302	70165302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagcagcagtgtgagCgactctgacgagcggggcag	18	9	1	2	rs148753961	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000264444.2	+	6	812	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_ENST00000540449.1_Silent_p.S174S|MXD1_ENST00000465446.1_3'UTR	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	184					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(550-552)agC>agT		MAX dimerization protein 1		C	,,	0,4406		0,0,2203	118	112	114		549,522,552	-5.1	0.9	2	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MXD1	NM_001202513.1,NM_001202514.1,NM_002357.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	183/221,174/212,184/222	70165302	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70165302C>T		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.552C>T	2.37:g.70165302C>T						MXD1_ENST00000540449.1_Silent_p.S174S|MXD1_ENST00000465446.1_3'UTR	p.S184S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			6	812	+			184					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	ENST00000264444.2	37	c.552C>T	CCDS1896.1																																																																																				0.557	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		111	300	0	0	0	1	0	111	300					T	70165302	C	T	70165302	2	4	79	1	0	0	0	0	0	0	0	1	10040	767	27	1		1	MXD1	2	70165302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41634	70165302	173034071	2524	12841											
ASPRV1	151516	broad.mit.edu	37	chr2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgctgttggcaaagaCgatctctttgggcaggtggc	13	10	1	1	rs371446435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(559-561)Gtc>Atc		aspartic peptidase, retroviral-like 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60	64	63		559	-1.8	1	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	187/344	70188262	2,13004	2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188262C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.559G>A	2.37:g.70188262C>T	ENSP00000315383:p.Val187Ile						p.V187I	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1135	-			187						Missense_Mutation	SNP	ENST00000320256.4	37	c.559G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195561	0.22037	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.49139	0.79	5.35	-1.79	0.07932	.	0.374473	0.18098	N	0.151771	T	0.26340	0.0643	L	0.27053	0.805	0.21782	N	0.999542	P	0.38504	0.634	B	0.25884	0.064	T	0.08534	-1.0717	10	0.36615	T	0.2	-15.2616	13.0216	0.58791	0.1264:0.2544:0.6192:0.0	.	187	Q53RT3	APRV1_HUMAN	I	187	ENSP00000315383:V187I	ENSP00000315383:V187I	V	-	1	0	ASPRV1	70041766	0.044000	0.20184	0.980000	0.43619	0.998000	0.95712	-1.908000	0.01587	-0.321000	0.08627	0.561000	0.74099	GTC		0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		72	364	0	0	0	1	0	72	364					T	70188262	C	T	70188262	3	4	79	1	0	0	0	0	1	0	0	0	1059	536	19	1	476	1	ASPRV1	2	70188262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22960	70188262	173011111	2525	12842											
PCBP1	5093	broad.mit.edu	37	chr2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacaagctggaggaagataTcaacagctccatgaccaaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(247-249)aTc>aGc		poly(rC) binding protein 1							81	94	90					2																	70315123		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315123T>G		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.248T>G	2.37:g.70315123T>G	ENSP00000305556:p.Ile83Ser					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.I83S	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	539	+			83					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.248T>G	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251377	0.59212	.	.	ENSG00000169564	ENST00000303577	T	0.41065	1.01	4.16	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.30885	0.0779	L	0.37466	1.105	0.58432	D	0.999999	B	0.21071	0.051	B	0.30179	0.112	T	0.05599	-1.0875	10	0.19590	T	0.45	.	8.1495	0.31132	0.0:0.098:0.0:0.902	.	83	Q15365	PCBP1_HUMAN	S	83	ENSP00000305556:I83S	ENSP00000305556:I83S	I	+	2	0	PCBP1	70168627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.890000	0.69774	0.954000	0.37851	-0.361000	0.07541	ATC		0.592	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		252	760	0	0	0	1	0	252	760					G	70315123	T	G	70315123	3	3	79	1	0	0	0	0	1	0	0	0	11542	1435	50	4	250	4	PCBP1	2	70315123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126861	70315123	172884250	2526	12843											
PCBP1	5093	broad.mit.edu	37	chr2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccaactccaccgagCgggccatcaccatcgctggc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	144	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(430-432)Cgg>Tgg		poly(rC) binding protein 1							49	50	49					2																	70315305		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315305C>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.430C>T	2.37:g.70315305C>T	ENSP00000305556:p.Arg144Trp					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.R144W	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	721	+			144			KH 2.		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.430C>T	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025764	0.35701	.	.	ENSG00000169564	ENST00000303577	T	0.36340	1.26	4.03	2.21	0.28008	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	M	0.91717	3.235	0.80722	D	1	P	0.40000	0.698	P	0.44394	0.448	T	0.54153	-0.8336	10	0.87932	D	0	.	7.5355	0.27708	0.0:0.7348:0.1689:0.0963	.	144	Q15365	PCBP1_HUMAN	W	144	ENSP00000305556:R144W	ENSP00000305556:R144W	R	+	1	2	PCBP1	70168809	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.719000	0.25881	0.660000	0.30964	0.650000	0.86243	CGG		0.622	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		111	306	0	0	0	1	0	111	306					T	70315305	C	T	70315305	3	4	79	1	0	0	0	0	1	0	0	0	11542	759	27	1	432	1	PCBP1	2	70315305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	70315305	172884068	2527	12844											
PCBP1	5093	broad.mit.edu	37	chr2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagggcatggggtgcaGctagaacagtgtaggttccc	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	356					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(1066-1068)aGc>aTc		poly(rC) binding protein 1							27	28	27					2																	70315942		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315942G>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1067G>T	2.37:g.70315942G>T	ENSP00000305556:p.Ser356Ile					PCBP1-AS1_ENST00000596028.1_RNA	p.S356I	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	1358	+			356					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.1067G>T	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334018	0.60853	.	.	ENSG00000169564	ENST00000303577	T	0.30182	1.54	3.88	3.88	0.44766	.	0.053625	0.64402	D	0.000001	T	0.42988	0.1227	L	0.57536	1.79	0.40620	D	0.981757	P	0.49862	0.929	P	0.53313	0.723	T	0.48151	-0.9060	10	0.87932	D	0	.	14.1379	0.65300	0.0:0.0:1.0:0.0	.	356	Q15365	PCBP1_HUMAN	I	356	ENSP00000305556:S356I	ENSP00000305556:S356I	S	+	2	0	PCBP1	70169446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.464000	0.83262	0.563000	0.77884	AGC		0.463	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		36	117	1	0	9.17885e-22	1	1.03586e-21	36	117					T	70315942	G	T	70315942	3	4	79	1	0	0	0	0	1	0	0	0	11542	971	34	3	1069	3	PCBP1	2	70315942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637	70315942	172883431	2528	12845											
PCYOX1	51449	broad.mit.edu	37	chr2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgctcagggcttctgcagGcatccaaaagcaatcttata	8	10	3	0	rs201051458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000433351.2	+	5	818	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	264					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(790-792)Gca>Tca		prenylcysteine oxidase 1							127	112	117					2																	70502729		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502729G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.790G>T	2.37:g.70502729G>T	ENSP00000387654:p.Ala264Ser					PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S	p.A264S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			5	818	+			264					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.790G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506898	0.26949	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	2.28	0.28536	Prenylcysteine lyase (1);	0.195793	0.53938	D	0.000050	T	0.08537	0.0212	L	0.34521	1.04	0.33521	D	0.592328	B;B	0.25667	0.037;0.131	B;B	0.25405	0.06;0.038	T	0.24368	-1.0162	10	0.07644	T	0.81	-9.6889	9.1513	0.36965	0.0775:0.0:0.6513:0.2712	.	246;264	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	S	187;187;264;264;186	ENSP00000441566:A187S;ENSP00000413178:A187S;ENSP00000387654:A264S;ENSP00000264441:A264S;ENSP00000439916:A186S	ENSP00000264441:A264S	A	+	1	0	PCYOX1	70356233	1.000000	0.71417	0.704000	0.30370	0.914000	0.54420	2.088000	0.41663	0.803000	0.34113	0.563000	0.77884	GCA		0.438	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		108	240	1	0	3.0332e-58	1	3.802e-58	108	240					T	70502729	G	T	70502729	3	4	79	1	0	0	0	0	1	0	0	0	11650	1203	42	3	808	3	PCYOX1	2	70502729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186787	70502729	172696644	2529	12846											
ADD2	119	broad.mit.edu	37	chr2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgaatcgtctttggTatcctcgtctcccttggaca	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	545					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1633-1635)Acc>Gcc		adducin 2 (beta)							220	200	206					2																	70901918		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.chr2:70901918T>C	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.1633A>G	2.37:g.70901918T>C	ENSP00000264436:p.Thr545Ala					ADD2_ENST00000355733.3_Missense_Mutation_p.T545A|ADD2_ENST00000407644.2_Missense_Mutation_p.T545A	p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			14	2077	-			545					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1633A>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677089	0.14841	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.21543	3.47;3.47;3.32;2.0	5.73	4.57	0.56435	.	0.306452	0.35585	N	0.003104	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.07986	-1.0744	10	0.18710	T	0.47	-21.5161	9.9387	0.41567	0.0:0.0805:0.0:0.9195	.	545;545;545;545	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	A	545;545;297;545;239;545;239	ENSP00000264436:T545A;ENSP00000384677:T545A;ENSP00000347972:T545A;ENSP00000430243:T239A	ENSP00000264436:T545A	T	-	1	0	ADD2	70755426	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.699000	0.25586	1.000000	0.39049	0.533000	0.62120	ACC		0.547	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		150	421	0	0	0	1	0	150	421					C	70901918	T	C	70901918	3	2	79	1	0	0	0	0	1	0	0	0	305	1638	57	4	649	4	ADD2	2	70901918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	399189	70901918	172297455	2530	12847											
ADD2	119	broad.mit.edu	37	chr2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgacttcacatcttgtcGgttttgttctcgaatctgtg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	507					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1519-1521)Cga>Tga		adducin 2 (beta)							66	68	67					2																	70904002		2203	4300	6503	SO:0001587	stop_gained	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.chr2:70904002G>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.1519C>T	2.37:g.70904002G>A	ENSP00000264436:p.Arg507*					ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*	p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1963	-			507					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Nonsense_Mutation	SNP	ENST00000264436.4	37	c.1519C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	43	9.987657	0.99312	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.2811	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;201;507;201;507;523	.	ENSP00000264436:R507X	R	-	1	2	ADD2	70757510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	CGA		0.612	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		88	366	0	0	0	1	0	88	366					A	70904002	G	A	70904002	4	1	79	1	0	0	0	0	0	1	0	0	305	1124	39	1	854	1	ADD2	2	70904002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2084	70904002	172295371	2531	12848											
ADD2	119	broad.mit.edu	37	chr2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcataataggccatgTcccccaccagcagggcattg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	255					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(763-765)gAc>gGc		adducin 2 (beta)							92	79	83					2																	70918003		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.chr2:70918003T>C	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.764A>G	2.37:g.70918003T>C	ENSP00000264436:p.Asp255Gly					AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G	p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			8	1208	-			255					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.764A>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798004	0.90538	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.099608	0.64402	D	0.000002	T	0.44705	0.1306	L	0.56280	1.765	0.58432	D	0.999995	D;B;B;D	0.60575	0.988;0.313;0.363;0.969	D;B;B;P	0.66979	0.948;0.087;0.217;0.69	T	0.38351	-0.9665	10	0.87932	D	0	-37.6637	13.4827	0.61345	0.0:0.0:0.0:1.0	.	271;255;255;255	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	255;255;255;255;255;255;271	ENSP00000264436:D255G;ENSP00000384677:D255G;ENSP00000347972:D255G;ENSP00000388072:D255G;ENSP00000398112:D271G	ENSP00000264436:D255G	D	-	2	0	ADD2	70771511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.277000	0.76020	0.528000	0.53228	GAC		0.562	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		37	316	0	0	0	1	0	37	316					C	70918003	T	C	70918003	3	2	79	1	0	0	0	0	1	0	0	0	305	1667	58	4	1629	4	ADD2	2	70918003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14001	70918003	172281370	2532	12849											
ADD2	119	broad.mit.edu	37	chr2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatcatggtgacgcGcttcttctgctccatcaggt	11	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	53					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGGTGACGCGCTTCTTCTGC	0.642																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(157-159)Cgc>Tgc		adducin 2 (beta)							54	52	53					2																	70933384		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.chr2:70933384G>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.157C>T	2.37:g.70933384G>A	ENSP00000264436:p.Arg53Cys					ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C	p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			3	601	-			53					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.157C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389532	0.82902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.89	2.93	0.34026	.	0.148312	0.41605	D	0.000847	T	0.58004	0.2092	M	0.88105	2.93	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.999;0.974;0.999;0.999;0.975	T	0.65393	-0.6179	10	0.87932	D	0	-16.7794	10.5275	0.44957	0.0:0.0:0.5433:0.4567	.	69;53;53;53;53;53	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	53;53;53;53;53;53;53;53;53;69;53;53	ENSP00000264436:R53C;ENSP00000384677:R53C;ENSP00000347972:R53C;ENSP00000430243:R53C;ENSP00000388072:R53C;ENSP00000398112:R69C;ENSP00000412357:R53C;ENSP00000412681:R53C	ENSP00000264436:R53C	R	-	1	0	ADD2	70786892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	1.385000	0.46445	0.591000	0.81541	CGC		0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		16	351	0	0	0	1	0	16	351					A	70933384	G	A	70933384	3	1	79	1	0	0	0	0	1	0	0	0	305	1087	38	1	2260	1	ADD2	2	70933384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15381	70933384	172265989	2533	12850											
ADD2	119	broad.mit.edu	37	chr2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcccggttgcgaaggcGcatgtactcggggtcgtcct	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	33					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)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(97-99)Cgc>Tgc		adducin 2 (beta)							56	58	57					2																	70933444		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.chr2:70933444G>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.97C>T	2.37:g.70933444G>A	ENSP00000264436:p.Arg33Cys					ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C	p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			3	541	-			33					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.97C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706310	0.68615	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.89	3.05	0.35203	.	0.070702	0.56097	D	0.000029	T	0.54382	0.1855	M	0.82630	2.6	0.45150	D	0.998168	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.996	D;D;P;D;P;P	0.65684	0.937;0.928;0.854;0.937;0.902;0.653	T	0.60490	-0.7253	10	0.87932	D	0	-10.9604	12.008	0.53270	0.0:0.0:0.6865:0.3135	.	49;33;33;33;33;33	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	33;33;33;33;33;33;33;33;33;49;33;33	ENSP00000264436:R33C;ENSP00000384677:R33C;ENSP00000347972:R33C;ENSP00000430243:R33C;ENSP00000388072:R33C;ENSP00000398112:R49C;ENSP00000412357:R33C;ENSP00000412681:R33C	ENSP00000264436:R33C	R	-	1	0	ADD2	70786952	1.000000	0.71417	0.918000	0.36340	0.548000	0.35241	4.820000	0.62671	0.735000	0.32537	0.591000	0.81541	CGC		0.647	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		139	346	0	0	0	1	0	139	346					A	70933444	G	A	70933444	3	1	79	1	0	0	0	0	1	0	0	0	305	1087	38	1	2320	1	ADD2	2	70933444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	70933444	172265929	2534	12851											
CLEC4F	165530	broad.mit.edu	37	chr2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatttcagagtttgcattttCtaagcctctgcttagcacgt	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000272367.2	-	4	734	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	220					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCATTTTCTAAGCCTCTG	0.413																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(658-660)Gaa>Taa		C-type lectin domain family 4, member F							84	82	83					2																	71043855		2203	4300	6503	SO:0001587	stop_gained	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043855C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.658G>T	2.37:g.71043855C>A	ENSP00000272367:p.Glu220*					CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	734	-			220					A4QPA5	Nonsense_Mutation	SNP	ENST00000272367.2	37	c.658G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322102	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	.	.	.	2.42	1.52	0.23074	.	0.343745	0.21127	N	0.079714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3439	0.15998	0.0:0.8318:0.0:0.1682	.	.	.	.	X	220	.	ENSP00000272367:E220X	E	-	1	0	CLEC4F	70897363	0.002000	0.14202	0.110000	0.21437	0.340000	0.28889	0.282000	0.18829	0.575000	0.29434	0.313000	0.20887	GAA		0.413	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		16	283	1	0	1.5739e-10	1	1.67034e-10	16	283					A	71043855	C	A	71043855	4	1	79	1	0	0	0	0	0	1	0	0	3525	922	32	3	1127	3	CLEC4F	2	71043855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110411	71043855	172155518	2535	12852											
CLEC4F	165530	broad.mit.edu	37	chr2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgcccagtaatgttgtCtcccagaattacggcttgca	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000272367.2	-	3	308	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	78					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(232-234)Gac>Aac		C-type lectin domain family 4, member F							130	111	117					2																	71046523		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046523C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.232G>A	2.37:g.71046523C>T	ENSP00000272367:p.Asp78Asn					CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			3	308	-			78					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.232G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816019	0.50527	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01963	4.58;4.53	3.59	-0.488	0.12056	.	1.740840	0.03574	N	0.229119	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0895	0.01660	0.1798:0.4327:0.1751:0.2124	.	78;78	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	78	ENSP00000272367:D78N;ENSP00000390581:D78N	ENSP00000272367:D78N	D	-	1	0	CLEC4F	70900031	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.508000	0.06344	-0.103000	0.12175	0.305000	0.20034	GAC		0.532	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		69	230	0	0	0	1	0	69	230					T	71046523	C	T	71046523	3	4	79	1	0	0	0	0	1	0	0	0	3525	913	32	2	1557	2	CLEC4F	2	71046523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2668	71046523	172152850	2536	12853											
CD207	50489	broad.mit.edu	37	chr2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgagtcacttactttgtCgtttgagcaacttgctcata	7	9	3	2	rs551434216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	187					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19275	0.0		0.001	False		,,,				2504	0.0					ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(559-561)cGa>cAa		CD207 molecule, langerin							68	61	63					2																	71060782		1887	4100	5987	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060782C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.560G>A	2.37:g.71060782C>T	ENSP00000386378:p.Arg187Gln						p.R187Q	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			3	605	-			187						Missense_Mutation	SNP	ENST00000410009.3	37	c.560G>A		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958792	0.00465	.	.	ENSG00000116031	ENST00000410009	T	0.28454	1.61	4.01	0.32	0.15878	.	0.885835	0.09699	N	0.767266	T	0.09774	0.0240	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33574	-0.9863	10	0.17832	T	0.49	.	2.4971	0.04624	0.2028:0.2341:0.0:0.5631	.	187	Q9UJ71	CLC4K_HUMAN	Q	187	ENSP00000386378:R187Q	ENSP00000386378:R187Q	R	-	2	0	CD207	70914290	0.005000	0.15991	0.036000	0.18154	0.022000	0.10575	-0.415000	0.07106	0.043000	0.15746	-1.087000	0.02190	CGA		0.483	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		27	56	0	0	0	1	0	27	56					T	71060782	C	T	71060782	3	4	79	1	0	0	0	0	1	0	0	0	2992	884	31	1	442	1	CD207	2	71060782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14259	71060782	172138591	2537	12854											
CD207	50489	broad.mit.edu	37	chr2	71062649	71062649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcagcaggacggaggCgaccaggaccagcgtcaggc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062649C>T	ENST00000410009.3	-	2	208	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	55			A -> V (in dbSNP:rs10489990).		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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACGGAGGCGACCAGGACC	0.597																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(163-165)Gcc>Acc		CD207 molecule, langerin							68	77	74					2																	71062649		2110	4230	6340	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71062649C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.163G>A	2.37:g.71062649C>T	ENSP00000386378:p.Ala55Thr						p.A55T	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			2	208	-			55		A -> V (in dbSNP:rs10489990).				Missense_Mutation	SNP	ENST00000410009.3	37	c.163G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.317390	0.23908	.	.	ENSG00000116031	ENST00000410009	T	0.04156	3.69	4.87	-2.16	0.07080	.	0.407067	0.21670	N	0.070893	T	0.01730	0.0055	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43861	-0.9365	10	0.12430	T	0.62	.	1.0347	0.01546	0.1653:0.2023:0.1641:0.4684	.	55	Q9UJ71	CLC4K_HUMAN	T	55	ENSP00000386378:A55T	ENSP00000386378:A55T	A	-	1	0	CD207	70916157	0.001000	0.12720	0.002000	0.10522	0.055000	0.15305	-0.664000	0.05292	-0.119000	0.11830	-0.175000	0.13238	GCC		0.597	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	207	0	0	0	1	0	5	207					T	71062649	C	T	71062649	3	4	79	1	0	0	0	0	1	0	0	0	2992	768	27	1	843	1	CD207	2	71062649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1867	71062649	172136724	2538	12855											
CD207	50489	broad.mit.edu	37	chr2	71062889	71062889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtgcgcatcaggggcCtccttctccacagtcatcct	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062889C>A	ENST00000410009.3	-	1	63	c.18G>T	c.(16-18)gaG>gaT	p.E6D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	6					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CATCAGGGGCCTCCTTCTCCA	0.562																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(16-18)gaG>gaT		CD207 molecule, langerin							90	97	95					2																	71062889		2094	4222	6316	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71062889C>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.18G>T	2.37:g.71062889C>A	ENSP00000386378:p.Glu6Asp						p.E6D	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			1	63	-			6						Missense_Mutation	SNP	ENST00000410009.3	37	c.18G>T		.	.	.	.	.	.	.	.	.	.	C	11.42	1.634852	0.29068	.	.	ENSG00000116031	ENST00000410009	T	0.04706	3.57	4.24	2.42	0.29668	.	0.132092	0.34676	N	0.003765	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.21655	-1.0239	10	0.36615	T	0.2	.	5.8743	0.18820	0.0:0.7655:0.0:0.2345	.	6	Q9UJ71	CLC4K_HUMAN	D	6	ENSP00000386378:E6D	ENSP00000386378:E6D	E	-	3	2	CD207	70916397	0.062000	0.20869	0.201000	0.23476	0.052000	0.14988	0.268000	0.18571	1.114000	0.41781	0.655000	0.94253	GAG		0.562	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	94	1	0	0.184627	1	0.18487	5	94					A	71062889	C	A	71062889	3	1	79	1	0	0	0	0	1	0	0	0	2992	680	24	3	992	3	CD207	2	71062889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	71062889	172136484	2539	12856											
NAGK	55577	broad.mit.edu	37	chr2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggccagcctaggggccaGgcacatcgggcacctcctcc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000244204.6	+	10	1024	c.962G>T	c.(961-963)aGg>aTg	p.R321M	NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000418807.3_Missense_Mutation_p.R270M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	321					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(808-810)aGg>aTg		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						34	32	33					2																	71305565		2203	4294	6497	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305565G>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.962G>T	2.37:g.71305565G>T	ENSP00000244204:p.Arg321Met					NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000244204.5_Missense_Mutation_p.R321M	p.R270M			Q9UJ70	NAGK_HUMAN			9	973	+			321					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.809G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.91|18.91|18.91	3.723219|3.723219|3.723219	0.68959|0.68959|0.68959	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.48201	.|.|1.41;1.38;0.82	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	.|.|.	.|.|0.352887	.|.|0.31834	.|.|N	.|.|0.006984	T|T|T	0.39200|0.39200|0.39200	0.1069|0.1069|0.1069	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.49687|0.49687|0.49687	D|D|D	0.99981|0.99981|0.99981	.|.|B	.|.|0.30439	.|.|0.279	.|.|B	.|.|0.32022	.|.|0.139	T|T|T	0.30534|0.30534|0.30534	-0.9975|-0.9975|-0.9975	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-13.0177|-13.0177|-13.0177	4.3929|4.3929|4.3929	0.11350|0.11350|0.11350	0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617	.|.|.	.|.|321	.|.|Q9UJ70	.|.|NAGK_HUMAN	C|H|M	339|85|321;367;270	.|.|ENSP00000244204:R321M;ENSP00000389087:R367M;ENSP00000396070:R270M	.|.|ENSP00000244204:R321M	G|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71159073|71159073|71159073	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.697000|0.697000|0.697000	0.25556|0.25556|0.25556	0.559000|0.559000|0.559000	0.29153|0.29153|0.29153	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGC|CAG|AGG		0.617	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			35	124	1	0	8.4185e-14	1	9.11178e-14	35	124					T	71305565	G	T	71305565	3	4	79	1	0	0	0	0	1	0	0	0	10183	1000	35	3	1138	3	NAGK	2	71305565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242676	71305565	171893808	2540	12857											
MCEE	84693	broad.mit.edu	37	chr2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaggttccacacagaacCtgtcacttgatccaagggct	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	40					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468																																						ENST00000244217.5																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(118-120)Ggt>Tgt		methylmalonyl CoA epimerase							114	124	121					2																	71351596		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351596C>A	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.118G>T	2.37:g.71351596C>A	ENSP00000244217:p.Gly40Cys						p.G40C	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN			2	135	-			40					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.118G>T	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854643	0.51376	.	.	ENSG00000124370	ENST00000244217	T	0.65178	-0.14	5.33	2.44	0.29823	.	0.727471	0.13510	N	0.382552	T	0.65312	0.2679	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.52856	0.711	T	0.56050	-0.8043	10	0.66056	D	0.02	-25.9894	4.5436	0.12071	0.0:0.5656:0.1631:0.2713	.	40	Q96PE7	MCEE_HUMAN	C	40	ENSP00000244217:G40C	ENSP00000244217:G40C	G	-	1	0	MCEE	71205104	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.288000	0.08377	0.284000	0.22305	0.650000	0.86243	GGT		0.468	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		240	659	1	0	2.64057e-105	1	3.39797e-105	240	659					A	71351596	C	A	71351596	3	1	79	1	0	0	0	0	1	0	0	0	9418	681	24	3	420	3	MCEE	2	71351596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46031	71351596	171847777	2541	12858											
ZNF638	27332	broad.mit.edu	37	chr2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaagagcttaattttgTtactgttgatgaagttggag	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1775					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTAATTTTGTTACTGTTGAT	0.368																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5323-5325)gTt>gGt		zinc finger protein 638							104	109	107					2																	71654323		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654323T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5324T>G	2.37:g.71654323T>G	ENSP00000386433:p.Val1775Gly					ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G	p.V1775G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5954	+			1775					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5324T>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821830	0.71028	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50813	0.73;0.73;1.13	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000259	T	0.54464	0.1860	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.56962	-0.7892	10	0.49607	T	0.09	-14.1295	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1775;1775	Q14966-3;Q14966	.;ZN638_HUMAN	G	1775;1775;715	ENSP00000264447:V1775G;ENSP00000386433:V1775G;ENSP00000386813:V715G	ENSP00000264447:V1775G	V	+	2	0	ZNF638	71507831	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	GTT		0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		127	573	0	0	0	1	0	127	573					G	71654323	T	G	71654323	3	3	79	1	0	0	0	0	1	0	0	0	18108	1725	60	4	5414	4	ZNF638	2	71654323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	302727	71654323	171545050	2542	12859											
DYSF	8291	broad.mit.edu	37	chr2	71797772	71797772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggagcggaagccgaaGcactgggtccctgctgagaa	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409366.1_Silent_p.K1026K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1025					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGCCGAAGCACTGGGTCC	0.627																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3073-3075)aaG>aaA		dysferlin							62	62	62					2																	71797772		2201	4300	6501	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797772G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3075G>A	2.37:g.71797772G>A						DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000409366.1_Silent_p.K1026K	p.K1025K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			29	3352	+			1025					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.3075G>A	CCDS1918.1																																																																																				0.627	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		39	152	0	0	0	1	0	39	152					A	71797772	G	A	71797772	2	1	79	1	0	0	0	0	0	0	0	1	4875	962	34	2		2	DYSF	2	71797772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143449	71797772	171401601	2543	12860											
DYSF	8291	broad.mit.edu	37	chr2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagatctttggcgagccgGccacagttgctgagcaaccg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1215	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGCGAGCCGGCCACAGTTGC	0.592																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3643-3645)Gcc>Acc		dysferlin							79	77	78					2																	71825816		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71825816G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3643G>A	2.37:g.71825816G>A	ENSP00000258104:p.Ala1215Thr					DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T	p.A1215T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			33	3920	+			1215			C2 4.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3643G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573708	0.28092	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.66	1.54	0.23209	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.929726	0.09356	N	0.813410	T	0.68274	0.2983	N	0.26130	0.795	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.015;0.015;0.002;0.015;0.004;0.004;0.004;0.002;0.015;0.001;0.001;0.009;0.015;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25759	0.038;0.038;0.009;0.038;0.038;0.038;0.038;0.038;0.038;0.009;0.009;0.038;0.038;0.063	T	0.54899	-0.8224	10	0.27785	T	0.31	-4.3415	7.2742	0.26275	0.1531:0.2606:0.5864:0.0	.	1247;1233;1216;1202;1233;1202;1232;1201;1246;1232;1215;1201;1216;1215	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1246;1232;1232;1215;1215;1247;1216;1202;1216;1233;1233	ENSP00000407046:A1246T;ENSP00000387137:A1232T;ENSP00000386547:A1232T;ENSP00000398305:A1215T;ENSP00000258104:A1215T;ENSP00000386683:A1247T;ENSP00000377678:A1216T;ENSP00000386285:A1202T;ENSP00000386512:A1216T;ENSP00000386881:A1233T;ENSP00000386617:A1233T	ENSP00000258104:A1215T	A	+	1	0	DYSF	71679324	0.050000	0.20438	0.039000	0.18376	0.359000	0.29487	0.816000	0.27267	0.749000	0.32854	0.655000	0.94253	GCC		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		11	328	0	0	0	1	0	11	328					A	71825816	G	A	71825816	3	1	79	1	0	0	0	0	1	0	0	0	4875	1203	42	2	3965	2	DYSF	2	71825816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28044	71825816	171373557	2544	12861											
DYSF	8291	broad.mit.edu	37	chr2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagatccatctgtgattgGtgaatttaaggtaaatcctc	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1543			G -> D (in LGMD2B). {ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGTGATTGGTGAATTTAAG	0.517																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM074150	DYSF	M		c.(4627-4629)gGt>gTt		dysferlin							257	251	253					2																	71883410		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883410G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4628G>T	2.37:g.71883410G>T	ENSP00000258104:p.Gly1543Val					DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V	p.G1543V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4905	+			1543		G -> D (in LGMD2B).			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4628G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967841	0.74131	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.69;-2.69;-2.69;-2.72;-2.73;-2.72;-2.67;-2.69;-2.69;-2.69	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.220575	0.47093	D	0.000249	D	0.96291	0.8790	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.997;0.998;1.0;0.998;1.0;0.999;0.998;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.988;0.962;0.978;0.988;0.962;0.991;0.993;0.991;0.997;0.978;0.993;0.993;0.962;0.962;0.917	D	0.96680	0.9503	10	0.72032	D	0.01	-37.0403	16.7046	0.85368	0.0:0.0:1.0:0.0	.	307;1575;1582;1565;1530;1561;1551;1560;1550;1574;1581;1564;1529;1544;1543	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1574;1560;1581;1564;1543;1575;1544;1551;1565;1582;1561	ENSP00000407046:G1574V;ENSP00000387137:G1560V;ENSP00000386547:G1581V;ENSP00000398305:G1564V;ENSP00000258104:G1543V;ENSP00000386683:G1575V;ENSP00000377678:G1544V;ENSP00000386285:G1551V;ENSP00000386512:G1565V;ENSP00000386881:G1582V;ENSP00000386617:G1561V	ENSP00000258104:G1543V	G	+	2	0	DYSF	71736918	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GGT		0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		395	1148	1	0	3.81505e-103	1	4.90782e-103	395	1148					T	71883410	G	T	71883410	3	4	79	1	0	0	0	0	1	0	0	0	4875	1261	44	3	5053	3	DYSF	2	71883410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57594	71883410	171315963	2545	12862											
CYP26B1	56603	broad.mit.edu	37	chr2	72371142	72371142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgttgcggtggatgtcGccaatggaattggacaccgt	14	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	135					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(403-405)ggC>ggT		cytochrome P450, family 26, subfamily B, polypeptide 1							61	60	60					2																	72371142		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371142G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.405C>T	2.37:g.72371142G>A						CYP26B1_ENST00000546307.1_Intron	p.G135G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			2	608	-			135					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.405C>T	CCDS1919.1																																																																																				0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		24	378	0	0	0	1	0	24	378					A	72371142	G	A	72371142	2	1	79	1	0	0	0	0	0	0	0	1	4167	1074	38	1		1	CYP26B1	2	72371142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487732	72371142	170828231	2546	12863											
CYP26B1	56603	broad.mit.edu	37	chr2	72371289	72371289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggccgccccaacaaatgCgtcttgaacacgttgccata	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	86					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(256-258)acG>acA		cytochrome P450, family 26, subfamily B, polypeptide 1							92	84	87					2																	72371289		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371289C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.258G>A	2.37:g.72371289C>T						CYP26B1_ENST00000546307.1_Intron	p.T86T	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			2	461	-			86					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.258G>A	CCDS1919.1																																																																																				0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		101	493	0	0	0	1	0	101	493					T	72371289	C	T	72371289	2	4	79	1	0	0	0	0	0	0	0	1	4167	755	27	1		1	CYP26B1	2	72371289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	72371289	170828084	2547	12864											
EMX1	2016	broad.mit.edu	37	chr2	73145311	73145311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgggcgcgggccgctcGctctacggtgggcccgagct	18	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	77					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(328-330)tcG>tcA		empty spiracles homeobox 1							5	6	6					2																	73145311		1595	3568	5163	SO:0001819	synonymous_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145311G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.330G>A	2.37:g.73145311G>A						EMX1_ENST00000394111.5_Intron	p.S110S	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			1	708	+			77					Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	c.330G>A	CCDS1921.2																																																																																				0.771	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			43	80	0	0	0	1	0	43	80					A	73145311	G	A	73145311	2	1	79	1	0	0	0	0	0	0	0	1	5125	1074	38	1		1	EMX1	2	73145311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	774022	73145311	170054062	2548	12865											
SFXN5	94097	broad.mit.edu	37	chr2	73198789	73198789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctccccgtaccgcatcagGaccacattgcagatattggc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	217					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592																																						ENST00000272433.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(649-651)gtC>gtT		sideroflexin 5							106	74	85					2																	73198789		2203	4300	6503	SO:0001819	synonymous_variant	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73198789G>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.651C>T	2.37:g.73198789G>A						SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	p.V217V	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN			11	781	-			217					A8K116|Q494Y3|Q53T29	Silent	SNP	ENST00000272433.2	37	c.651C>T	CCDS1922.1																																																																																				0.592	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		19	211	0	0	0	1	0	19	211					A	73198789	G	A	73198789	2	1	79	1	0	0	0	0	0	0	0	1	14248	1161	41	2		2	SFXN5	2	73198789	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53478	73198789	170000584	2549	12866											
SMYD5	10322	broad.mit.edu	37	chr2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccaactggaacttctgCggagactcttcacagaggcc	12	12	3	2	rs554531603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18232	0.0		0.0	False		,,,				2504	0.0					ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(661-663)Cgg>Tgg		SMYD family member 5							42	40	41					2																	73449901		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73449901C>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.661C>T	2.37:g.73449901C>T	ENSP00000374152:p.Arg221Trp						p.R221W	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			7	706	+			221					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.661C>T	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905965	0.72868	.	.	ENSG00000135632	ENST00000389501	T	0.47869	0.83	4.6	2.59	0.31030	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.62392	0.2424	M	0.77103	2.36	0.39539	D	0.968782	D	0.71674	0.998	P	0.60886	0.88	T	0.66152	-0.5995	10	0.35671	T	0.21	-9.9667	12.5013	0.55957	0.2975:0.7025:0.0:0.0	.	221	Q6GMV2	SMYD5_HUMAN	W	221	ENSP00000374152:R221W	ENSP00000374152:R221W	R	+	1	2	SMYD5	73303409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.396000	0.44468	1.242000	0.43836	0.561000	0.74099	CGG		0.587	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		13	91	0	0	0	1	0	13	91					T	73449901	C	T	73449901	3	4	79	1	0	0	0	0	1	0	0	0	14875	759	27	1	687	1	SMYD5	2	73449901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251112	73449901	169749472	2550	12867											
SMYD5	10322	broad.mit.edu	37	chr2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttgctcttgttgggAccaatggccaaggaatcggg	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(751-753)Acc>Gcc		SMYD family member 5							159	157	158					2																	73450209		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73450209A>G	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.751A>G	2.37:g.73450209A>G	ENSP00000374152:p.Thr251Ala						p.T251A	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			8	796	+			251			SET.		D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.751A>G	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838105	0.91117	.	.	ENSG00000135632	ENST00000389501	T	0.80653	-1.4	4.39	4.39	0.52855	SET domain (2);	0.094256	0.64402	D	0.000001	D	0.86276	0.5894	M	0.78049	2.395	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.83964	0.0323	10	0.14252	T	0.57	-18.4045	12.8616	0.57915	1.0:0.0:0.0:0.0	.	251	Q6GMV2	SMYD5_HUMAN	A	251	ENSP00000374152:T251A	ENSP00000374152:T251A	T	+	1	0	SMYD5	73303717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.175000	0.89684	1.995000	0.58328	0.402000	0.26972	ACC		0.483	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		220	615	0	0	0	1	0	220	615					G	73450209	A	G	73450209	3	3	79	1	0	0	0	0	1	0	0	0	14875	275	10	4	781	4	SMYD5	2	73450209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308	73450209	169749164	2551	12868											
CCT7	10574	broad.mit.edu	37	chr2	73470188	73470188	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagagtttctgaagcaggtGaaaccctatgtggaggaagg	15	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000258091.5	+	4	465	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_ENST00000539919.1_Silent_p.V64V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000538797.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	108					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(190-192)gtG>gtA		chaperonin containing TCP1, subunit 7 (eta)							86	86	86					2																	73470188		1956	4142	6098	SO:0001819	synonymous_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470188G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.324G>A	2.37:g.73470188G>A						CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Silent_p.V108V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000538797.1_5'UTR	p.V64V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			5	563	+			108					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	c.192G>A	CCDS46336.1																																																																																				0.512	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			65	329	0	0	0	1	0	65	329					A	73470188	G	A	73470188	2	1	79	1	0	0	0	0	0	0	0	1	2968	1277	45	2		2	CCT7	2	73470188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19979	73470188	169729185	2552	12869											
CCT7	10574	broad.mit.edu	37	chr2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgctctgagctccaagCtgatctcccagcagaaagct	9	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000258091.5	+	6	640	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_ENST00000539919.1_Missense_Mutation_p.L123M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	167					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(367-369)Ctg>Atg		chaperonin containing TCP1, subunit 7 (eta)							56	57	57					2																	73471724		2060	4214	6274	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73471724C>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.499C>A	2.37:g.73471724C>A	ENSP00000258091:p.Leu167Met					CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Missense_Mutation_p.L167M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	p.L123M	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			7	738	+			167					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.367C>A	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017429	0.75161	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.89	4.02	0.46733	.	0.149169	0.45867	D	0.000322	D	0.87034	0.6077	M	0.85542	2.76	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.728;0.682;0.73;0.692	P;P;B;P;P	0.56648	0.803;0.451;0.397;0.612;0.5	D	0.87435	0.2391	10	0.46703	T	0.11	-14.8483	11.3016	0.49309	0.0:0.9111:0.0:0.0889	.	80;39;67;125;167	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	M	80;123;167;67;39;125	ENSP00000442058:L80M;ENSP00000437824:L123M;ENSP00000258091:L167M;ENSP00000444379:L67M;ENSP00000438462:L39M	ENSP00000258091:L167M	L	+	1	2	CCT7	73325232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.223000	0.51231	1.431000	0.47355	0.563000	0.77884	CTG		0.488	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			25	121	1	0	1.64293e-13	1	1.77503e-13	25	121					A	73471724	C	A	73471724	3	1	79	1	0	0	0	0	1	0	0	0	2968	796	28	3	521	3	CCT7	2	73471724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1536	73471724	169727649	2553	12870											
CCT7	10574	broad.mit.edu	37	chr2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatccatcattctggagCcaaagttgtcttgtccaaac	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000258091.5	+	8	998	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_ENST00000539919.1_Missense_Mutation_p.A242V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	286					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(724-726)gCc>gTc		chaperonin containing TCP1, subunit 7 (eta)							105	101	102					2																	73476192		1945	4140	6085	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73476192C>T	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.857C>T	2.37:g.73476192C>T	ENSP00000258091:p.Ala286Val					CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000258091.5_Missense_Mutation_p.A286V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	p.A242V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			9	1096	+			286					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.725C>T	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514495	0.85389	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71920	2.185	0.80722	D	1	P;D;P;D;B;D	0.61697	0.495;0.971;0.845;0.99;0.02;0.963	B;P;B;P;B;P	0.62014	0.209;0.668;0.399;0.897;0.046;0.809	D	0.86972	0.2098	10	0.59425	D	0.04	-18.3614	16.9294	0.86186	0.0:1.0:0.0:0.0	.	199;158;186;244;82;286	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	199;242;286;82;186;158;244	ENSP00000442058:A199V;ENSP00000437824:A242V;ENSP00000258091:A286V;ENSP00000381456:A82V;ENSP00000444379:A186V;ENSP00000438462:A158V	ENSP00000258091:A286V	A	+	2	0	CCT7	73329700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.599000	0.82757	2.671000	0.90904	0.455000	0.32223	GCC		0.483	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			10	276	0	0	0	1	0	10	276					T	73476192	C	T	73476192	3	4	79	1	0	0	0	0	1	0	0	0	2968	739	26	2	887	2	CCT7	2	73476192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4468	73476192	169723181	2554	12871											
FBXO41	150726	broad.mit.edu	37	chr2	73486119	73486119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctacccgggttagcagccGccttccaccttgatgtgcag	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	ENST00000521871.1	-	13	3034	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G			Q8TF61	FBX41_HUMAN	F-box protein 41	873										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTAGCAGCCGCCTTCCACCT	0.642																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2617-2619)ggC>ggT		F-box protein 41							17	20	19					2																	73486119		1875	4063	5938	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486119G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2619C>T	2.37:g.73486119G>A						FBXO41_ENST00000520530.2_Silent_p.G873G|FBXO41_ENST00000295133.5_Silent_p.G934G	p.G873G			Q8TF61	FBX41_HUMAN			13	3034	-			873					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2619C>T	CCDS46337.2																																																																																				0.642	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			19	38	0	0	0	1	0	19	38					A	73486119	G	A	73486119	2	1	79	1	0	0	0	0	0	0	0	1	5775	1074	38	1		1	FBXO41	2	73486119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9927	73486119	169713254	2555	12872											
EGR4	1961	broad.mit.edu	37	chr2	73519155	73519155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaactctccgccgtcgccGctactccctccctccccact	5	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000545030.1	-	2	1274	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_ENST00000436467.2_Silent_p.S297S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	400	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1198-1200)agC>agT		early growth response 4							10	14	13					2																	73519155		2141	4241	6382	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519155G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1200C>T	2.37:g.73519155G>A						EGR4_ENST00000436467.2_Silent_p.S297S	p.S400S	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	1274	-			296					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.1200C>T	CCDS1925.2																																																																																				0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		12	106	0	0	0	1	0	12	106					A	73519155	G	A	73519155	2	1	79	1	0	0	0	0	0	0	0	1	4990	1078	38	1		1	EGR4	2	73519155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33036	73519155	169680218	2556	12873											
EGR4	1961	broad.mit.edu	37	chr2	73519670	73519670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaaaaggggcatccaGcggggatctggacgctgctg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000545030.1	-	2	759	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	EGR4_ENST00000436467.2_Silent_p.L126L	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	229	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCATCCAGCGGGGATCTG	0.667																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(685-687)Ctg>Ttg		early growth response 4							22	27	25					2																	73519670		2200	4298	6498	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519670G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.685C>T	2.37:g.73519670G>A						EGR4_ENST00000436467.2_Silent_p.L126L	p.L229L	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	759	-			125					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.685C>T	CCDS1925.2																																																																																				0.667	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		4	94	0	0	0	1	0	4	94					A	73519670	G	A	73519670	2	1	79	1	0	0	0	0	0	0	0	1	4990	962	34	2		2	EGR4	2	73519670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	73519670	169679703	2557	12874											
ALMS1	7840	broad.mit.edu	37	chr2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactcacatagagagaagCctggtactttttaccaacaa	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	627	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGAGAGAAGCCTGGTACTTT	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1879-1881)Cct>Tct		Alstrom syndrome 1							112	113	112					2																	73675536		1864	4092	5956	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675536C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1879C>T	2.37:g.73675536C>T	ENSP00000264448:p.Pro627Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S	p.P627S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1990	+			627			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1879C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497604	0.04291	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17691	3.14;3.13;2.26	4.08	0.202	0.15190	.	1.540760	0.03657	N	0.242053	T	0.12433	0.0302	L	0.38175	1.15	0.09310	N	1	P;P;B	0.35401	0.499;0.499;0.307	B;B;B	0.26416	0.069;0.069;0.069	T	0.26052	-1.0114	10	0.34782	T	0.22	.	6.1427	0.20269	0.0:0.5246:0.0:0.4754	.	627;585;627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	585;627;627	ENSP00000386627:P585S;ENSP00000264448:P627S;ENSP00000366944:P627S	ENSP00000264448:P627S	P	+	1	0	ALMS1	73529044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.079000	0.03410	0.016000	0.14998	0.655000	0.94253	CCT		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		188	661	0	0	0	1	0	188	661					T	73675536	C	T	73675536	3	4	79	1	0	0	0	0	1	0	0	0	535	739	26	2	1909	2	ALMS1	2	73675536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155866	73675536	169523837	2558	12875											
ALMS1	7840	broad.mit.edu	37	chr2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattgaccagtaaacctgtaGcacaggatcaagaatcttta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3107					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAAACCTGTAGCACAGGATCA	0.393																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(9319-9321)Gca>Tca		Alstrom syndrome 1							101	96	97					2																	73718408		1869	4108	5977	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718408G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9319G>T	2.37:g.73718408G>T	ENSP00000264448:p.Ala3107Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S	p.A3107S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	9430	+			3107					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9319G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059890	0.55325	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	4.0	3.12	0.35913	.	0.624751	0.14322	N	0.326937	T	0.13286	0.0322	L	0.48642	1.525	0.80722	D	1	P;P;P	0.37636	0.603;0.603;0.603	P;P;P	0.48368	0.575;0.575;0.575	T	0.05386	-1.0888	10	0.48119	T	0.1	.	7.6443	0.28311	0.1148:0.0:0.8852:0.0	.	3107;3065;3107	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3065;3107	ENSP00000386627:A3065S;ENSP00000264448:A3107S	ENSP00000264448:A3107S	A	+	1	0	ALMS1	73571916	0.990000	0.36364	0.978000	0.43139	0.961000	0.63080	0.899000	0.28417	1.279000	0.44446	0.580000	0.79431	GCA		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	462	1	0	0.000132079	1	0.000134276	18	462					T	73718408	G	T	73718408	3	4	79	1	0	0	0	0	1	0	0	0	535	971	34	3	9357	3	ALMS1	2	73718408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42872	73718408	169480965	2559	12876											
ALMS1	7840	broad.mit.edu	37	chr2	73762007	73762007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccaagatgtattatgttCcacaattaagacaaattcct	5	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73762007C>T	ENST00000264448.6	+	12	9946	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3279					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTATTATGTTCCACAATTAAG	0.348																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(9835-9837)Cca>Tca		Alstrom syndrome 1							163	153	157					2																	73762007		1825	4076	5901	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73762007C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9835C>T	2.37:g.73762007C>T	ENSP00000264448:p.Pro3279Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	p.P3279S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			12	9946	+			3279					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9835C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576900	0.45902	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08282	3.11;3.11	4.76	3.88	0.44766	.	0.191887	0.25881	N	0.027690	T	0.11665	0.0284	L	0.36672	1.1	0.80722	D	1	P;P;D;P	0.56521	0.873;0.946;0.976;0.873	B;P;P;B	0.52424	0.412;0.509;0.698;0.412	T	0.03139	-1.1068	10	0.54805	T	0.06	.	8.7908	0.34850	0.0:0.8977:0.0:0.1023	.	3279;3279;3237;3279	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	S	3237;3279	ENSP00000386627:P3237S;ENSP00000264448:P3279S	ENSP00000264448:P3279S	P	+	1	0	ALMS1	73615515	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.662000	0.46766	1.229000	0.43630	0.491000	0.48974	CCA		0.348	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		25	726	0	0	0	1	0	25	726					T	73762007	C	T	73762007	3	4	79	1	0	0	0	0	1	0	0	0	535	855	30	2	9881	2	ALMS1	2	73762007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43599	73762007	169437366	2560	12877											
ALMS1	7840	broad.mit.edu	37	chr2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggtcggggctacctgGcaggcccaggcagagaggct	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4017					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCTACCTGGCAGGCCCAGG	0.572																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12049-12051)Gca>Aca		Alstrom syndrome 1							38	45	43					2																	73828501		2201	4300	6501	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828501G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12049G>A	2.37:g.73828501G>A	ENSP00000264448:p.Ala4017Thr					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	p.A4017T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			19	12160	+			4017					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12049G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374355	0.61735	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06449	3.3;3.3	5.17	2.11	0.27256	.	0.704599	0.12773	N	0.440361	T	0.13500	0.0327	L	0.43152	1.355	0.09310	N	0.999998	P;D	0.60575	0.746;0.988	B;P	0.60236	0.33;0.871	T	0.12656	-1.0539	10	0.51188	T	0.08	.	9.7807	0.40647	0.0:0.2824:0.5721:0.1455	.	3975;4017	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	3975;4017	ENSP00000386627:A3975T;ENSP00000264448:A4017T	ENSP00000264448:A4017T	A	+	1	0	ALMS1	73682009	0.009000	0.17119	0.001000	0.08648	0.094000	0.18550	1.680000	0.37607	0.689000	0.31550	0.561000	0.74099	GCA		0.572	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		121	348	0	0	0	1	0	121	348					A	73828501	G	A	73828501	3	1	79	1	0	0	0	0	1	0	0	0	535	1203	42	2	12123	2	ALMS1	2	73828501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66494	73828501	169370872	2561	12878											
ALMS1	7840	broad.mit.edu	37	chr2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagcgcctgaagttaataGtccaggagaggaagctgcag	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4062	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGTTAATAGTCCAGGAGAG	0.502																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12184-12186)Gtc>Atc		Alstrom syndrome 1							60	64	62					2																	73829384		2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73829384G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12184G>A	2.37:g.73829384G>A	ENSP00000264448:p.Val4062Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	p.V4062I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			20	12295	+			4062					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12184G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330713	0.81690	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	5.38	4.43	0.53597	.	0.377452	0.25436	N	0.030696	T	0.19846	0.0477	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.835;0.994	P;D	0.72982	0.685;0.979	T	0.00038	-1.2247	10	0.62326	D	0.03	.	10.8552	0.46794	0.0971:0.0:0.9029:0.0	.	4020;4062	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	4020;4062	ENSP00000386627:V4020I;ENSP00000264448:V4062I	ENSP00000264448:V4062I	V	+	1	0	ALMS1	73682892	0.529000	0.26322	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	2.793000	0.96121	0.655000	0.94253	GTC		0.502	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		81	215	0	0	0	1	0	81	215					A	73829384	G	A	73829384	3	1	79	1	0	0	0	0	1	0	0	0	535	1029	36	2	12262	2	ALMS1	2	73829384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	883	73829384	169369989	2562	12879											
ACTG2	72	broad.mit.edu	37	chr2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattattgctcccccagagCggaagtactcagtctggatc	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409624.1	+	10	1649	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W|ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	336					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1006-1008)Cgg>Tgg		actin, gamma 2, smooth muscle, enteric							81	85	84					2																	74146577		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146577C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1006C>T	2.37:g.74146577C>T	ENSP00000386857:p.Arg336Trp					ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W	p.R336W			P63267	ACTH_HUMAN			10	1649	+			336					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.1006C>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924572	0.52653	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96365	-3.99;-3.99;-3.99	4.95	4.05	0.47172	.	0.400763	0.20589	N	0.089385	D	0.99227	0.9731	H	0.99991	5.33	0.45452	D	0.998427	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.97857	1.0278	10	0.87932	D	0	.	13.8071	0.63238	0.1546:0.8453:0.0:0.0	.	293;336	E9PG30;P63267	.;ACTH_HUMAN	W	293;336;336	ENSP00000386929:R293W;ENSP00000295137:R336W;ENSP00000386857:R336W	ENSP00000295137:R336W	R	+	1	2	ACTG2	74000085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.107000	0.50329	1.395000	0.46643	0.591000	0.81541	CGG		0.507	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		68	397	0	0	0	1	0	68	397					T	74146577	C	T	74146577	3	4	79	1	0	0	0	0	1	0	0	0	197	759	27	1	1036	1	ACTG2	2	74146577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317193	74146577	169052796	2563	12880											
TET3	200424	broad.mit.edu	37	chr2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactgcagacggccctgGccctcgcgcggcatggtatg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	126					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACGGCCCTGGCCCTCGCGCG	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(376-378)Gcc>Acc		tet methylcytosine dioxygenase 3							51	54	53					2																	74273825		2046	4199	6245	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273825G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.376G>A	2.37:g.74273825G>A	ENSP00000386869:p.Ala126Thr						p.A126T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	376	+			126					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.376G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676362	0.67928	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.28895	1.59;2.5	5.31	5.31	0.75309	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.37515	D	0.917294	B	0.27853	0.191	B	0.26770	0.073	T	0.13683	-1.0500	9	0.56958	D	0.05	.	17.9029	0.88910	0.0:0.0:1.0:0.0	.	126	O43151	TET3_HUMAN	T	168;126;126	ENSP00000307803:A168T;ENSP00000386869:A126T	ENSP00000233310:A126T	A	+	1	0	TET3	74127333	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.283000	0.58977	2.768000	0.95171	0.561000	0.74099	GCC		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			126	335	0	0	0	1	0	126	335					A	74273825	G	A	74273825	3	1	79	1	0	0	0	0	1	0	0	0	15823	1203	42	2	378	2	TET3	2	74273825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127248	74273825	168925548	2564	12881											
TET3	200424	broad.mit.edu	37	chr2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacagaccacccaaggagaAgaagaagaagctcccaacac	9	12	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	443					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAAGGAGAAGAAGAAGAAG	0.592																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1327-1329)aAg>aTg		tet methylcytosine dioxygenase 3							32	39	37					2																	74274777		1941	4123	6064	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274777A>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1328A>T	2.37:g.74274777A>T	ENSP00000386869:p.Lys443Met						p.K443M	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1328	+			443					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1328A>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826483	0.50739	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.52	5.55	5.55	0.83447	.	.	.	.	.	T	0.33876	0.0878	L	0.29908	0.895	0.30441	N	0.776174	D	0.62365	0.991	P	0.54270	0.747	T	0.28996	-1.0026	9	0.59425	D	0.04	.	9.2408	0.37495	0.9181:0.0:0.0819:0.0	.	443	O43151	TET3_HUMAN	M	485;443;443	ENSP00000307803:K485M;ENSP00000386869:K443M	ENSP00000233310:K443M	K	+	2	0	TET3	74128285	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.545000	0.53648	2.115000	0.64714	0.482000	0.46254	AAG		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	133	0	0	0	1	0	11	133					T	74274777	A	T	74274777	3	4	79	1	0	0	0	0	1	0	0	0	15823	72	3	5	1330	5	TET3	2	74274777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	952	74274777	168924596	2565	12882											
MTHFD2	10797	broad.mit.edu	37	chr2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtaattaatgtaggaCgaatgtgtttggatcagtat	10	3	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	164					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(490-492)Cga>Tga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						296	269	278					2																	74435776		1950	4161	6111	SO:0001587	stop_gained	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74435776C>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.490C>T	2.37:g.74435776C>T	ENSP00000377617:p.Arg164*					MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000477455.1_3'UTR	p.R164*	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			4	570	+			164					Q53G90|Q53GV5|Q53S36|Q7Z650	Nonsense_Mutation	SNP	ENST00000394053.2	37	c.490C>T	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402043	0.83120	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000409601	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.3401:0.6599:0.0:0.0	.	.	.	.	X	164;62;123	.	ENSP00000264090:R62X	R	+	1	2	MTHFD2	74289284	0.942000	0.31987	0.935000	0.37517	0.914000	0.54420	1.619000	0.36965	1.200000	0.43188	0.650000	0.86243	CGA		0.418	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			306	817	0	0	0	1	0	306	817					T	74435776	C	T	74435776	4	4	79	1	0	0	0	0	0	1	0	0	9970	528	19	1	504	1	MTHFD2	2	74435776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160999	74435776	168763597	2566	12883											
SLC4A5	57835	broad.mit.edu	37	chr2	74482960	74482960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgactggatgaggcgcaCgaacgcgatgaatggctggt	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74482960C>T	ENST00000377634.4	-	13	1366	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V323M|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGGCGCACGAACGCGATG	0.582																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(967-969)Gtg>Atg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							140	108	119					2																	74482960		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74482960C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.967G>A	2.37:g.74482960C>T	ENSP00000366861:p.Val323Met					SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M	p.V323M	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			13	1364	-			323						Missense_Mutation	SNP	ENST00000377634.4	37	c.967G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453625	0.84209	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.06	4.19	0.49359	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.118223	0.56097	D	0.000025	D	0.89715	0.6795	M	0.93375	3.41	0.41103	D	0.985681	D;D;P;D;D	0.89917	0.999;0.993;0.925;0.987;1.0	D;D;P;D;D	0.72075	0.958;0.921;0.784;0.935;0.976	D	0.91362	0.5112	10	0.66056	D	0.02	.	11.2704	0.49136	0.0:0.9113:0.0:0.0887	.	323;323;259;323;323	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	323;323;323;259;323;259;323;323;323;323	ENSP00000377587:V323M;ENSP00000251768:V323M;ENSP00000352461:V259M;ENSP00000395804:V323M;ENSP00000351513:V259M;ENSP00000350475:V323M;ENSP00000366859:V323M;ENSP00000366861:V323M;ENSP00000405678:V323M	ENSP00000251768:V323M	V	-	1	0	SLC4A5	74336468	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.896000	0.69822	1.363000	0.46019	0.655000	0.94253	GTG		0.582	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			71	217	0	0	0	1	0	71	217					T	74482960	C	T	74482960	3	4	79	1	0	0	0	0	1	0	0	0	14707	536	19	1	2522	1	SLC4A5	2	74482960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47184	74482960	168716413	2567	12884											
SLC4A5	57835	broad.mit.edu	37	chr2	74491293	74491293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtggtggagactgacttCccaatgtcagctaaggagcg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491293C>T	ENST00000377634.4	-	10	1095	c.696G>A	c.(694-696)ggG>ggA	p.G232G	SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000357822.5_Silent_p.G232G|SLC4A5_ENST00000359484.4_Silent_p.G168G|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000394019.2_Silent_p.G232G|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGACTGACTTCCCAATGTCAG	0.612																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(694-696)ggG>ggA		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							167	140	149					2																	74491293		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491293C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.696G>A	2.37:g.74491293C>T						SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000359484.4_Silent_p.G168G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000377634.4_Silent_p.G232G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000357822.5_Silent_p.G232G	p.G232G	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1093	-			232						Silent	SNP	ENST00000377634.4	37	c.696G>A	CCDS1936.1																																																																																				0.612	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			6	241	0	0	0	1	0	6	241					T	74491293	C	T	74491293	2	4	79	1	0	0	0	0	0	0	0	1	14707	842	30	2		2	SLC4A5	2	74491293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	74491293	168708080	2568	12885											
SLC4A5	57835	broad.mit.edu	37	chr2	74491312	74491312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaatgtcagctaaggagCggtggatgggcttcttggtt	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491312C>T	ENST00000377634.4	-	10	1076	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R226H|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTAAGGAGCGGTGGATGGG	0.592																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(676-678)cGc>cAc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							171	145	154					2																	74491312		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491312C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.677G>A	2.37:g.74491312C>T	ENSP00000366861:p.Arg226His					SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H	p.R226H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1074	-			226						Missense_Mutation	SNP	ENST00000377634.4	37	c.677G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385575	0.95967	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.83	4.83	0.62350	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;0.997	D	0.85509	0.1196	10	0.54805	T	0.06	.	15.8121	0.78573	0.0:1.0:0.0:0.0	.	226;226;162;226;226	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	226;226;226;162;226;162;226;226;226;226;110	ENSP00000377587:R226H;ENSP00000251768:R226H;ENSP00000352461:R162H;ENSP00000395804:R226H;ENSP00000351513:R162H;ENSP00000350475:R226H;ENSP00000366859:R226H;ENSP00000366861:R226H;ENSP00000405678:R226H;ENSP00000414162:R110H	ENSP00000251768:R226H	R	-	2	0	SLC4A5	74344820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.648000	0.89879	0.655000	0.94253	CGC		0.592	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			57	214	0	0	0	1	0	57	214					T	74491312	C	T	74491312	3	4	79	1	0	0	0	0	1	0	0	0	14707	768	27	1	2824	1	SLC4A5	2	74491312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	74491312	168708061	2569	12886											
SLC4A5	57835	broad.mit.edu	37	chr2	74491387	74491387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcccggagctctggcCgcaggagaccatcctcaatc	9	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491387C>T	ENST00000377634.4	-	10	1001	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R201Q|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGCTCTGGCCGCAGGAGACC	0.547																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(601-603)cGg>cAg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							135	121	126					2																	74491387		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491387C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.602G>A	2.37:g.74491387C>T	ENSP00000366861:p.Arg201Gln					SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q	p.R201Q	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	999	-			201						Missense_Mutation	SNP	ENST00000377634.4	37	c.602G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817884	0.32145	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.72	3.83	0.44106	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.504521	0.21862	N	0.068009	T	0.64294	0.2585	N	0.25286	0.73	0.09310	N	1	B;P;B;P;B	0.39520	0.054;0.676;0.184;0.529;0.287	B;B;B;B;B	0.37047	0.04;0.24;0.103;0.131;0.13	T	0.57219	-0.7849	10	0.39692	T	0.17	.	6.4309	0.21796	0.0:0.8083:0.0:0.1917	.	201;201;137;201;201	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	Q	201;201;201;137;201;137;201;201;201;201;85	ENSP00000377587:R201Q;ENSP00000251768:R201Q;ENSP00000352461:R137Q;ENSP00000395804:R201Q;ENSP00000351513:R137Q;ENSP00000350475:R201Q;ENSP00000366859:R201Q;ENSP00000366861:R201Q;ENSP00000405678:R201Q;ENSP00000414162:R85Q	ENSP00000251768:R201Q	R	-	2	0	SLC4A5	74344895	0.974000	0.33945	0.952000	0.39060	0.336000	0.28762	3.325000	0.52030	2.589000	0.87451	0.655000	0.94253	CGG		0.547	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			43	261	0	0	0	1	0	43	261					T	74491387	C	T	74491387	3	4	79	1	0	0	0	0	1	0	0	0	14707	652	23	1	2899	1	SLC4A5	2	74491387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	74491387	168707986	2570	12887											
DCTN1	1639	broad.mit.edu	37	chr2	74588664	74588664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagctggtgcagctgctCctgggtcagcaccagccggt	15	12	1	1	rs146083590	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74588664C>T	ENST00000361874.3	-	32	4116	c.3799G>A	c.(3799-3801)Gag>Aag	p.E1267K	DCTN1_ENST00000409868.1_Missense_Mutation_p.E1245K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E1225K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E1128K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E1133K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E1242K|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.E180K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E1260K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1267					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGCAGCTGCTCCTGGGTCAGC	0.612													C|||	3	0.000599042	0.0	0.0	5008	,	,		17164	0.003		0.0	False		,,,				2504	0.0					ENST00000451608.2																			0											c.(538-540)Gag>Aag									111	85	94					2																	74588664		2203	4300	6503	SO:0001583	missense	0							g.chr2:74588664C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3799G>A	2.37:g.74588664C>T	ENSP00000354791:p.Glu1267Lys					DCTN1_ENST00000409438.1_Missense_Mutation_p.E1128K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E1245K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E1225K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E1133K|DCTN1_ENST00000361874.3_Missense_Mutation_p.E1267K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E1242K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E1260K	p.E180K							5	537	-								A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.538G>A	CCDS1939.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	14.61	2.585508	0.46110	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.64	5.64	0.86602	.	0.000000	0.42294	D	0.000739	T	0.53433	0.1796	N	0.08118	0	0.35153	D	0.769999	B;B;B;B;B;B;P	0.35383	0.008;0.146;0.063;0.008;0.014;0.103;0.498	B;B;B;B;B;B;B	0.33454	0.004;0.038;0.017;0.004;0.004;0.039;0.164	T	0.66440	-0.5923	10	0.28530	T	0.3	-13.4458	18.4677	0.90761	0.0:1.0:0.0:0.0	.	1242;1225;1267;1260;1133;1128;1250	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	K	1267;1260;1250;1133;1128;1225;1245;1242	ENSP00000354791:E1267K;ENSP00000377571:E1260K;ENSP00000384844:E1133K;ENSP00000387270:E1128K;ENSP00000386406:E1225K;ENSP00000387327:E1245K;ENSP00000386843:E1242K	ENSP00000354791:E1267K	E	-	1	0	DCTN1	74442172	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	1.154000	0.31688	2.659000	0.90383	0.591000	0.81541	GAG		0.612	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		10	223	0	0	0	1	0	10	223					T	74588664	C	T	74588664	3	4	79	1	0	0	0	0	1	0	0	0	4317	864	30	2	41	2	DCTN1	2	74588664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97277	74588664	168610709	2571	12888											
DCTN1	1639	broad.mit.edu	37	chr2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgcagtcatggtccccacCtggccgaaggaagctgtcag	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	600					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGTCCCCACCTGGCCGAAGG	0.522																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1798-1800)Ggt>Tgt		dynactin 1							157	124	135					2																	74595911		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595911C>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1798G>T	2.37:g.74595911C>A	ENSP00000354791:p.Gly600Cys					DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	p.G600C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			16	2115	-			600					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1798G>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038934	0.75617	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82255	-1.16;-1.32;-1.12;-1.13;-1.59;-1.35;-1.37	5.65	4.78	0.61160	.	0.000000	0.44285	D	0.000480	D	0.90188	0.6933	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.997	D;D;D;D;D;P	0.97110	0.999;1.0;0.922;0.999;0.982;0.873	D	0.91352	0.5105	10	0.87932	D	0	-7.756	13.7048	0.62631	0.0:0.9255:0.0:0.0745	.	580;563;600;593;466;466	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	600;593;583;466;466;563;583;580	ENSP00000354791:G600C;ENSP00000377571:G593C;ENSP00000384844:G466C;ENSP00000387270:G466C;ENSP00000386406:G563C;ENSP00000387327:G583C;ENSP00000386843:G580C	ENSP00000354791:G600C	G	-	1	0	DCTN1	74449419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.309000	0.65774	1.636000	0.50526	0.655000	0.94253	GGT		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		52	382	1	0	3.4597e-24	1	3.94879e-24	52	382					A	74595911	C	A	74595911	3	1	79	1	0	0	0	0	1	0	0	0	4317	681	24	3	2106	3	DCTN1	2	74595911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7247	74595911	168603462	2572	12889											
RTKN	84058	broad.mit.edu	37	chr2	74654384	74654384	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcatgatttcatcacaGcactgcttccattggcctgg	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74654384G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Silent_p.C374C|RTKN_ENST00000305557.5_Silent_p.C411C|RTKN_ENST00000272430.5_Silent_p.C424C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TTTCATCACAGCACTGCTTCC	0.498																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1231-1233)tgC>tgT		rhotekin							102	102	102					2																	74654384		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654384G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654384G>A						RTKN_ENST00000233330.6_Silent_p.C374C|RTKN_ENST00000272430.5_Silent_p.C424C	p.C411C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			12	1818	-			424			PH.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1233C>T	CCDS1940.1																																																																																				0.498	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		77	386	0	0	0	1	0	77	386					A	74654384	G	A	74654384	1	1	79	0	1	0	0	0	0	0	0	0	13772	963	34	2		2	RTKN	2	74654384	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58473	74654384	168544989	2573	12890											
INO80B	83444	broad.mit.edu	37	chr2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcagccgtcccctgccaaGcctcagctcaaactcaaaat	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	INO80B_ENST00000469849.1_Intron|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.K66N	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	66					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCTGCCAAGCCTCAGCTCA	0.507																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(196-198)aaG>aaT		INO80 complex subunit B							43	57	52					2																	74682672		2203	4300	6503	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682672G>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.198G>T	2.37:g.74682672G>T	ENSP00000233331:p.Lys66Asn					INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|INO80B_ENST00000469849.1_Intron	p.K66N	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			2	292	+			66						Missense_Mutation	SNP	ENST00000233331.7	37	c.198G>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841789	0.51057	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50001	0.77;0.76;0.78;0.76	5.56	3.7	0.42460	.	0.242001	0.40469	N	0.001081	T	0.34513	0.0900	L	0.39898	1.24	0.36444	D	0.865667	B;B;B;B	0.32245	0.361;0.037;0.037;0.022	B;B;B;B	0.29942	0.109;0.017;0.017;0.037	T	0.36720	-0.9736	10	0.31617	T	0.26	-18.2847	8.6538	0.34051	0.0806:0.0:0.7685:0.1508	.	84;66;66;66	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	66;66;66;71	ENSP00000233331:K66N;ENSP00000389887:K66N;ENSP00000387267:K66N;ENSP00000386937:K71N	ENSP00000233331:K66N	K	+	3	2	INO80B	74536180	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.354000	0.34056	1.353000	0.45828	0.563000	0.77884	AAG		0.507	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		11	340	1	0	5.16669e-11	1	5.49905e-11	11	340					T	74682672	G	T	74682672	3	4	79	1	0	0	0	0	1	0	0	0	7777	962	34	3	204	3	INO80B	2	74682672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28288	74682672	168516701	2574	12891											
MOGS	7841	broad.mit.edu	37	chr2	74689272	74689272	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcctgcctggctctgatgGagccaggaaaaccaggcatg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	548					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1642-1644)ctC>ctA		mannosyl-oligosaccharide glucosidase							83	91	89					2																	74689272		1942	4133	6075	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689272G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1644C>A	2.37:g.74689272G>T						MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	p.L548L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1806	-			548					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1644C>A	CCDS42700.1																																																																																				0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		131	694	1	0	9.186e-65	1	1.16102e-64	131	694					T	74689272	G	T	74689272	2	4	79	1	0	0	0	0	0	0	0	1	9738	1161	41	3		3	MOGS	2	74689272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6600	74689272	168510101	2575	12892											
MOGS	7841	broad.mit.edu	37	chr2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcttgacgaactcagTggtgagccttaaggccccat	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	170					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(508-510)Act>Gct		mannosyl-oligosaccharide glucosidase							66	73	70					2																	74691694		2008	4165	6173	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74691694T>C	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.508A>G	2.37:g.74691694T>C	ENSP00000233616:p.Thr170Ala					MOGS_ENST00000535045.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A	p.T170A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			2	670	-			170					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.508A>G	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794219	0.90453	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.82323	2.585	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.64698	-0.6346	10	0.51188	T	0.08	-12.3794	13.3999	0.60876	0.0:0.0:0.0:1.0	.	170	Q13724	MOGS_HUMAN	A	170;64;170;64;51	ENSP00000233616:T170A;ENSP00000388201:T64A;ENSP00000386493:T170A;ENSP00000410992:T64A;ENSP00000396298:T51A	ENSP00000233616:T170A	T	-	1	0	MOGS	74545202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.254000	0.74563	0.533000	0.62120	ACT		0.627	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		88	467	0	0	0	1	0	88	467					C	74691694	T	C	74691694	3	2	79	1	0	0	0	0	1	0	0	0	9738	1696	59	4	2017	4	MOGS	2	74691694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2422	74691694	168507679	2576	12893											
CCDC142	84865	broad.mit.edu	37	chr2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaatgtggtcaagccagGcacccacgatggccgtcaga	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	MRPL53_ENST00000409710.1_5'Flank|MRPL53_ENST00000258105.7_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1756-1758)gCc>gTc		coiled-coil domain containing 142							88	92	91					2																	74702391		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74702391G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1757C>T	2.37:g.74702391G>A	ENSP00000377537:p.Ala586Val					CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	p.A586V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			7	2153	-			586					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.1757C>T		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709332	0.68615	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.72118	2.19	0.43652	D	0.996062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73078	-0.4096	10	0.72032	D	0.01	-10.8696	13.081	0.59114	0.0:0.0:1.0:0.0	.	586;579;586	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	586;579	ENSP00000377537:A586V;ENSP00000290418:A579V	ENSP00000290418:A579V	A	-	2	0	CCDC142	74555899	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.209000	0.72171	2.472000	0.83506	0.467000	0.42956	GCC		0.582	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		30	631	0	0	0	1	0	30	631					A	74702391	G	A	74702391	3	1	79	1	0	0	0	0	1	0	0	0	2783	1203	42	2	507	2	CCDC142	2	74702391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10697	74702391	168496982	2577	12894											
TTC31	64427	broad.mit.edu	37	chr2	74719130	74719130	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactttgcaccctatccccaGgcatctccgggactgctggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000233623.5	+	9	883		c.e9-1		TTC31_ENST00000410003.1_Splice_Site|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.e9-1		tetratricopeptide repeat domain 31							60	63	62					2																	74719130		1984	4166	6150	SO:0001630	splice_region_variant	64427						binding	g.chr2:74719130G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.877-1G>T	2.37:g.74719130G>T						TTC31_ENST00000233623.5_Splice_Site|TTC31_ENST00000442235.2_Intron				Q49AM3	TTC31_HUMAN			9	885	+								Q4KN40|Q53FD4|Q9H9F7	Splice_Site	SNP	ENST00000233623.5	37		CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920848	0.17982	.	.	ENSG00000115282	ENST00000410003;ENST00000233623;ENST00000414247	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4006	0.26962	0.1197:0.0:0.8803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC31	74572638	0.978000	0.34361	0.250000	0.24296	0.357000	0.29423	2.111000	0.41883	0.954000	0.37851	0.561000	0.74099	.		0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	Intron	58	270	1	0	1.69475e-38	1	2.04315e-38	58	270					T	74719130	G	T	74719130	5	4	79	1	0	0	0	0	0	0	1	0	16754	1014	35	3	910	3	TTC31	2	74719130	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16739	74719130	168480243	2578	12895											
DQX1	165545	broad.mit.edu	37	chr2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctgacaggtccccaTcatcatccagggctgccaga	9	15	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000393951.2_Missense_Mutation_p.D455G|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	455						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1363-1365)gAt>gGt		DEAQ box RNA-dependent ATPase 1							199	194	196					2																	74749838		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74749838T>C	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1364A>G	2.37:g.74749838T>C	ENSP00000384621:p.Asp455Gly					DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			8	1583	-			455					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1364A>G	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530676	0.64860	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.32023	1.47;1.47	4.57	4.57	0.56435	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	M	0.77712	2.385	0.45704	D	0.998615	P	0.40360	0.714	P	0.45195	0.473	T	0.47661	-0.9100	10	0.72032	D	0.01	-13.8644	11.9275	0.52827	0.0:0.0:0.0:1.0	.	455	Q8TE96	DQX1_HUMAN	G	455	ENSP00000377523:D455G;ENSP00000384621:D455G	ENSP00000377523:D455G	D	-	2	0	DQX1	74603346	0.999000	0.42202	0.294000	0.24946	0.973000	0.67179	6.075000	0.71261	1.925000	0.55765	0.454000	0.30748	GAT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		64	1425	0	0	0	1	0	64	1425					C	74749838	T	C	74749838	3	2	79	1	0	0	0	0	1	0	0	0	4767	1435	50	4	809	4	DQX1	2	74749838	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30708	74749838	168449535	2579	12896											
DQX1	165545	broad.mit.edu	37	chr2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccagcacgccccaggctCcagtgcctcgggtcgaggcc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000393951.2_Missense_Mutation_p.G162E|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	162	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCCCCAGGCTCCAGTGCCTCG	0.592																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(484-486)gGa>gAa		DEAQ box RNA-dependent ATPase 1							67	69	69					2																	74751381		2203	4299	6502	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74751381C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.485G>A	2.37:g.74751381C>T	ENSP00000384621:p.Gly162Glu					DQX1_ENST00000393951.2_Missense_Mutation_p.G162E|DQX1_ENST00000495597.1_5'UTR	p.G162E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			4	704	-			162			Helicase ATP-binding.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.485G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815377	0.02776	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.06068	4.82;4.82;3.35	4.59	4.59	0.56863	DEAD-like helicase (2);	0.144069	0.47093	D	0.000254	T	0.03390	0.0098	N	0.05383	-0.06	0.36377	D	0.861658	B	0.24618	0.107	B	0.22386	0.039	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.8456	14.9166	0.70801	0.0:1.0:0.0:0.0	.	162	Q8TE96	DQX1_HUMAN	E	162;162;44	ENSP00000377523:G162E;ENSP00000384621:G162E;ENSP00000392969:G44E	ENSP00000377523:G162E	G	-	2	0	DQX1	74604889	0.994000	0.37717	1.000000	0.80357	0.600000	0.36913	2.215000	0.42862	2.374000	0.81015	0.609000	0.83330	GGA		0.592	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		18	691	0	0	0	1	0	18	691					T	74751381	C	T	74751381	3	4	79	1	0	0	0	0	1	0	0	0	4767	855	30	2	1704	2	DQX1	2	74751381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1543	74751381	168447992	2580	12897											
HTRA2	27429	broad.mit.edu	37	chr2	74757547	74757547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccgccgtccctagcccGccgcccgcttctccccggag	10	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000352222.3_Silent_p.P138P|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	138					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCTAGCCCGCCGCCCGCTT	0.672																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(412-414)ccG>ccA		HtrA serine peptidase 2							7	9	8					2																	74757547		2127	4186	6313	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757547G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.414G>A	2.37:g.74757547G>A						HTRA2_ENST00000352222.3_Silent_p.P138P|HTRA2_ENST00000467961.1_Intron	p.P138P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	1044	+			138					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.414G>A	CCDS1951.1																																																																																				0.672	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		31	85	0	0	0	1	0	31	85					A	74757547	G	A	74757547	2	1	79	1	0	0	0	0	0	0	0	1	7484	1074	38	1		1	HTRA2	2	74757547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6166	74757547	168441826	2581	12898											
LOXL3	84695	broad.mit.edu	37	chr2	74762766	74762766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcctacaggccaccatGgcctccagggtcccccagtc	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	455	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1363-1365)gcC>gcT		lysyl oxidase-like 3							79	91	87					2																	74762766		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762766G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1365C>T	2.37:g.74762766G>A						LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.A310A	p.A455A	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1436	-			455			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1365C>T	CCDS1953.1																																																																																				0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		295	701	0	0	0	1	0	295	701					A	74762766	G	A	74762766	2	1	79	1	0	0	0	0	0	0	0	1	8939	1335	47	2		2	LOXL3	2	74762766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5219	74762766	168436607	2582	12899											
C2orf65	130951	broad.mit.edu	37	chr2	74802682	74802682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccatatgtcaatgactcGcagagcccgctagattttaa	8	10	1	3	rs575443272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74802682G>A	ENST00000290536.5	-	7	1073	c.957C>T	c.(955-957)tgC>tgT	p.C319C	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.C319C|M1AP_ENST00000409585.1_Silent_p.C319C|M1AP_ENST00000358434.2_Silent_p.C37C	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	319					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCAATGACTCGCAGAGCCCGC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.001		0.0	False		,,,				2504	0.0					ENST00000290536.5																			0											c.(955-957)tgC>tgT		meiosis 1 associated protein							109	107	108					2																	74802682		2203	4300	6503	SO:0001819	synonymous_variant	130951							g.chr2:74802682G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.957C>T	2.37:g.74802682G>A						M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.C37C|M1AP_ENST00000536235.1_Silent_p.C319C|M1AP_ENST00000409585.1_Silent_p.C319C	p.C319C	NM_138804.3	NP_620159.2					7	1073	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.957C>T	CCDS33229.1																																																																																				0.458	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		153	442	0	0	0	1	0	153	442					A	74802682	G	A	74802682	2	1	79	1	0	0	0	0	0	0	0	1	2191	1079	38	1		1	C2orf65	2	74802682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39916	74802682	168396691	2583	12900											
HK2	3099	broad.mit.edu	37	chr2	75094762	75094762	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcccttcctttctctgcaGaacacggagagttcctggct	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000290573.2	+	3	826		c.e3-1		HK2_ENST00000409174.1_Splice_Site	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2						apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.e3-1		hexokinase 2							221	237	231					2																	75094762		2203	4300	6503	SO:0001630	splice_region_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75094762G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.227-1G>T	2.37:g.75094762G>T						HK2_ENST00000409174.1_Splice_Site		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			3	826	+								D6W5J2|Q8WU87|Q9UN82	Splice_Site	SNP	ENST00000290573.2	37		CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554873	0.86231	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HK2	74948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	.		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	Intron	315	1492	1	0	3.75818e-72	1	4.7802e-72	315	1492					T	75094762	G	T	75094762	5	4	79	1	0	0	0	0	0	0	1	0	7221	956	33	3	236	3	HK2	2	75094762	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292080	75094762	168104611	2584	12901											
HK2	3099	broad.mit.edu	37	chr2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcatccggaaggcccGtgaggtcctgatgcggttgg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	353	Hexokinase type-2 1.|Regulatory.		R -> C (in dbSNP:rs61748096). {ECO:0000269|PubMed:7883120}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1057-1059)cGt>cAt		hexokinase 2							34	26	29					2																	75105841		2199	4297	6496	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75105841G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1058G>A	2.37:g.75105841G>A	ENSP00000290573:p.Arg353His					HK2_ENST00000409174.1_Missense_Mutation_p.R325H	p.R353H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			9	1658	+			353		R -> C.	Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1058G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	HK2	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT		0.632	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		24	46	0	0	0	1	0	24	46					A	75105841	G	A	75105841	3	1	79	1	0	0	0	0	1	0	0	0	7221	1145	40	1	1092	1	HK2	2	75105841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11079	75105841	168093532	2585	12902											
TACR1	6869	broad.mit.edu	37	chr2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatggagtagatactggCgaagacagcggcgatgggaa	16	7	1	2	rs199510054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	118					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(352-354)Gcc>Acc		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						121	112	115					2																	75425709		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425709C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	1117	-			118					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.352G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		61	381	0	0	0	1	0	61	381					T	75425709	C	T	75425709	3	4	79	1	0	0	0	0	1	0	0	0	15557	768	27	1	895	1	TACR1	2	75425709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319868	75425709	167773664	2586	12903											
TACR1	6869	broad.mit.edu	37	chr2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagccatggaggcctccGcgaaggccaggttcaccaga	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	77					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(229-231)gCg>gTg		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						166	140	149					2																	75425831		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425831G>A	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.230C>T	2.37:g.75425831G>A	ENSP00000303522:p.Ala77Val					TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	995	-			77					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.230C>T	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91616	0.5307	10	0.87932	D	0	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	77	P25103	NK1R_HUMAN	V	77	ENSP00000303522:A77V;ENSP00000386448:A77V	ENSP00000303522:A77V	A	-	2	0	TACR1	75279339	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	GCG		0.502	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		52	290	0	0	0	1	0	52	290					A	75425831	G	A	75425831	3	1	79	1	0	0	0	0	1	0	0	0	15557	1087	38	1	1017	1	TACR1	2	75425831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	75425831	167773542	2587	12904											
FAM176A	84141	broad.mit.edu	37	chr2	75720521	75720521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcctctcgaagcggcgGtgtctccgcacggagagatc	13	12	2	1	rs146541154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75720521G>A	ENST00000233712.1	-	4	737	c.300C>T	c.(298-300)caC>caT	p.H100H	EVA1A_ENST00000410113.1_Silent_p.H100H|EVA1A_ENST00000393913.3_Silent_p.H100H|EVA1A_ENST00000410071.1_Silent_p.H100H|EVA1A_ENST00000410010.1_Silent_p.H88H|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	100					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGAAGCGGCGGTGTCTCCGCA	0.627																																						ENST00000233712.1																			0											c.(298-300)caC>caT		eva-1 homolog A (C. elegans)							56	52	53					2																	75720521		2203	4300	6503	SO:0001819	synonymous_variant	84141							g.chr2:75720521G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.300C>T	2.37:g.75720521G>A						EVA1A_ENST00000410010.1_Silent_p.H88H|EVA1A_ENST00000393913.3_Silent_p.H100H|EVA1A_ENST00000410071.1_Silent_p.H100H|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Silent_p.H100H	p.H100H	NM_032181.2	NP_115557.1					4	737	-								D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.300C>T	CCDS1959.1																																																																																				0.627	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		71	310	0	0	0	1	0	71	310					A	75720521	G	A	75720521	2	1	79	1	0	0	0	0	0	0	0	1	5520	1252	44	2		2	FAM176A	2	75720521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294690	75720521	167478852	2588	12905											
C2orf3	6936	broad.mit.edu	37	chr2	75917768	75917768	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttatataggtaccttcGagattcaatctcttctaaaa	4	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75917768G>A	ENST00000321027.3	-	8	1355	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.R370*|MRPL19_ENST00000358788.6_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	408					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										AGGTACCTTCGAGATTCAATC	0.313																																						ENST00000321027.3																			0											c.(1222-1224)Cga>Tga		GC-rich sequence DNA-binding factor 2							78	85	82					2																	75917768		2203	4294	6497	SO:0001587	stop_gained	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917768G>A	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1222C>T	2.37:g.75917768G>A	ENSP00000318690:p.Arg408*					GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.R370*|MRPL19_ENST00000358788.6_3'UTR	p.R408*	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			8	1355	-			408					A4UHQ8|O95032|Q53TY0|Q6P2F2	Nonsense_Mutation	SNP	ENST00000321027.3	37	c.1222C>T	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.324182	0.97476	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	.	.	.	4.62	4.62	0.57501	.	0.501568	0.19266	N	0.118559	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9164	0.47139	0.0:0.0:0.812:0.188	.	.	.	.	X	408;370	.	ENSP00000318690:R408X	R	-	1	2	C2orf3	75771276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.102000	0.50291	2.497000	0.84241	0.555000	0.69702	CGA		0.313	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		15	358	0	0	0	1	0	15	358					A	75917768	G	A	75917768	4	1	79	1	0	0	0	0	0	1	0	0	2169	1066	37	1	1163	1	C2orf3	2	75917768	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197247	75917768	167281605	2589	12906											
LRRTM4	80059	broad.mit.edu	37	chr2	77745858	77745858	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctagggataatcagaggtttCtggggagtttggggcaccag	16	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:77745858C>A	ENST00000409093.1	-	3	1473	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	379					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCAGAGGTTTCTGGGGAGTTT	0.483																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1135-1137)caG>caT		leucine rich repeat transmembrane neuronal 4							133	129	130					2																	77745858		1883	4111	5994	SO:0001583	missense	80059					integral to membrane		g.chr2:77745858C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1137G>T	2.37:g.77745858C>A	ENSP00000386357:p.Gln379His					LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H	p.Q379H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1551	-			379					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1137G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872152	0.17322	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	4.79	0.61399	.	0.553031	0.20134	N	0.098526	T	0.58595	0.2133	N	0.22421	0.69	0.35920	D	0.831742	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.59048	-0.7527	10	0.29301	T	0.29	.	8.8148	0.34989	0.0:0.7684:0.1525:0.0791	.	380;379;379	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	380;379;379;379;380	ENSP00000387228:Q380H;ENSP00000387297:Q379H;ENSP00000386357:Q379H;ENSP00000386236:Q379H;ENSP00000386286:Q380H	ENSP00000386236:Q379H	Q	-	3	2	LRRTM4	77599366	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	1.353000	0.45828	0.655000	0.94253	CAG		0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	222	1	0	0.0293803	1	0.0294705	6	222					A	77745858	C	A	77745858	3	1	79	1	0	0	0	0	1	0	0	0	9080	912	32	3	649	3	LRRTM4	2	77745858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1828090	77745858	165453515	2590	12907											
REG3G	130120	broad.mit.edu	37	chr2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctctccacggatcagCtgtcccaaaggctccaaggc	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000272324.5	+	3	301	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	39					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)			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						CACGGATCAGCTGTCCCAAAG	0.527																																						ENST00000272324.5																			0				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						c.(115-117)agC>agA		regenerating islet-derived 3 gamma							85	82	83					2																	79253879		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253879C>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.117C>A	2.37:g.79253879C>A	ENSP00000272324:p.Ser39Arg					REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			3	301	+			39					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.117C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151243	0.21371	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17528	4.2;4.2;2.27	5.05	0.0749	0.14397	C-type lectin-like (1);	0.501906	0.20367	N	0.093738	T	0.12603	0.0306	L	0.48642	1.525	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.004	T	0.18967	-1.0320	10	0.45353	T	0.12	.	4.9812	0.14166	0.0:0.4397:0.3079:0.2524	.	39;39	Q3SYE6;Q6UW15	.;REG3G_HUMAN	R	39	ENSP00000377475:S39R;ENSP00000272324:S39R;ENSP00000387105:S39R	ENSP00000272324:S39R	S	+	3	2	REG3G	79107387	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.550000	0.06034	-0.090000	0.12462	0.655000	0.94253	AGC		0.527	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		58	181	1	0	1.84395e-34	1	2.19361e-34	58	181					A	79253879	C	A	79253879	3	1	79	1	0	0	0	0	1	0	0	0	13263	796	28	3	123	3	REG3G	2	79253879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508021	79253879	163945494	2591	12908											
REG1A	5967	broad.mit.edu	37	chr2	79348758	79348758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccaatgcctatcgctcCtactgctactactttaatga	6	13	0	1	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTATCGCTCCTACTGCTACT	0.537																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(133-135)tcC>tcA		regenerating islet-derived 1 alpha							175	172	173					2																	79348758		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348758C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.135C>A	2.37:g.79348758C>A							p.S45S	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	238	+			45			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.135C>A	CCDS1964.1																																																																																				0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		33	1277	1	0	3.08376e-08	1	3.21767e-08	33	1277					A	79348758	C	A	79348758	2	1	79	1	0	0	0	0	0	0	0	1	13260	668	24	3		3	REG1A	2	79348758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94879	79348758	163850615	2592	12909											
REG1A	5967	broad.mit.edu	37	chr2	79350005	79350005	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgggtccctggtctcCtacaagtcctggggcattgg	14	11	1	0	rs373247851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCTGGTCTCCTACAAGTCCT	0.567																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(358-360)tcC>tcA		regenerating islet-derived 1 alpha							121	117	118					2																	79350005		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350005C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.360C>A	2.37:g.79350005C>A							p.S120S	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			5	463	+			120			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.360C>A	CCDS1964.1																																																																																				0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		106	631	1	0	5.97022e-63	1	7.52953e-63	106	631					A	79350005	C	A	79350005	2	1	79	1	0	0	0	0	0	0	0	1	13260	668	24	3		3	REG1A	2	79350005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1247	79350005	163849368	2593	12910											
CTNNA2	1496	broad.mit.edu	37	chr2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacgatgcggatcgccTcctccgagtttgcagatgac	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000402739.4	+	3	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	107					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGGATCGCCTCCTCCGAGTT	0.572																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(319-321)Tcc>Gcc		catenin (cadherin-associated protein), alpha 2							96	94	95					2																	80085159		2051	4191	6242	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085159T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.319T>G	2.37:g.80085159T>G	ENSP00000384638:p.Ser107Ala					CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S107A	p.S107A			P26232	CTNA2_HUMAN			8	1043	+			107					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.319T>G		.	.	.	.	.	.	.	.	.	.	T	8.425	0.847206	0.17034	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.67	5.67	0.87782	.	0.065157	0.64402	N	0.000005	T	0.21022	0.0506	N	0.16166	0.38	0.51767	D	0.999934	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15484	0.013;0.005;0.008	T	0.08617	-1.0713	10	0.02654	T	1	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	107;107;107	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	A	107;107;107;141;107;107;107	ENSP00000418191:S107A;ENSP00000419295:S107A;ENSP00000387073:S107A;ENSP00000355398:S141A;ENSP00000384638:S107A;ENSP00000444675:S107A;ENSP00000441705:S107A	ENSP00000355398:S141A	S	+	1	0	CTNNA2	79938667	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.186000	0.72026	2.164000	0.68074	0.533000	0.62120	TCC		0.572	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		85	502	0	0	0	1	0	85	502					G	80085159	T	G	80085159	3	3	79	1	0	0	0	0	1	0	0	0	4024	1551	54	4	329	4	CTNNA2	2	80085159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735154	80085159	163114214	2594	12911											
CTNNA2	1496	broad.mit.edu	37	chr2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgccacccagatgtcGccgctacgagagccaaccga	9	17	1	2	rs371032975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000402739.4	+	5	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCAGATGTCGCCGCTACGAG	0.577																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(700-702)Gcc>Acc		catenin (cadherin-associated protein), alpha 2		G	THR/ALA,THR/ALA	0,4156		0,0,2078	51	55	53		700,700	5.7	0.7	2		53	1,8443		0,1,4221	no	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	58,58	0,1,6299	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	234/861,234/906	80101316	1,12599	2078	4222	6300	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101316G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.700G>A	2.37:g.80101316G>A	ENSP00000384638:p.Ala234Thr					CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A234T	p.A234T			P26232	CTNA2_HUMAN			10	1424	+			234					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.700G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086571	0.76642	0.0	1.18E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.55999	0.789;0.684;0.768	T	0.53301	-0.8458	10	0.19147	T	0.46	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	234;234;268;234;234;234	ENSP00000418191:A234T;ENSP00000419295:A234T;ENSP00000355398:A268T;ENSP00000384638:A234T;ENSP00000444675:A234T;ENSP00000441705:A234T	ENSP00000355398:A268T	A	+	1	0	CTNNA2	79954824	1.000000	0.71417	0.742000	0.31022	0.816000	0.46133	9.869000	0.99810	2.686000	0.91538	0.650000	0.86243	GCC		0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		78	298	0	0	0	1	0	78	298					A	80101316	G	A	80101316	3	1	79	1	0	0	0	0	1	0	0	0	4024	1087	38	1	718	1	CTNNA2	2	80101316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16157	80101316	163098057	2595	12912											
LRRTM1	347730	broad.mit.edu	37	chr2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccgagagcaggtggccgCtggtgggctcggccccatcc	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000295057.3	-	2	1768	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	371					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAGGTGGCCGCTGGTGGGCTC	0.726										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1111-1113)aGc>aTc		leucine rich repeat transmembrane neuronal 1							15	16	15					2																	80529833		2194	4290	6484	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529833C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1112G>T	2.37:g.80529833C>A	ENSP00000295057:p.Ser371Ile	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000402739.4_Intron	p.S371I	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1768	-			371					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1112G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111276	0.37242	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42131	0.98;0.98	5.32	5.32	0.75619	.	0.181583	0.47093	U	0.000241	T	0.26085	0.0636	N	0.08118	0	0.50813	D	0.999893	B	0.16396	0.017	B	0.12837	0.008	T	0.08513	-1.0718	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	371	Q86UE6	LRRT1_HUMAN	I	371	ENSP00000295057:S371I;ENSP00000386646:S371I	.	S	-	2	0	LRRTM1	80383344	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.825000	0.69286	2.452000	0.82932	0.655000	0.94253	AGC		0.726	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		51	161	1	0	9.22156e-22	1	1.04059e-21	51	161					A	80529833	C	A	80529833	3	1	79	1	0	0	0	0	1	0	0	0	9077	797	28	3	460	3	LRRTM1	2	80529833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428517	80529833	162669540	2596	12913											
LRRTM1	347730	broad.mit.edu	37	chr2	80530750	80530750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacaagcccagcaggccGgacaggttgtggggcgcctc	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	ENST00000295057.3	-	2	851	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	65					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCAGCAGGCCGGACAGGTTGT	0.692										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(193-195)tcC>tcT		leucine rich repeat transmembrane neuronal 1							34	39	37					2																	80530750		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530750G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.195C>T	2.37:g.80530750G>A		HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000402739.4_Intron	p.S65S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	851	-			65			LRRNT.		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.195C>T	CCDS1966.1																																																																																				0.692	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		117	313	0	0	0	1	0	117	313					A	80530750	G	A	80530750	2	1	79	1	0	0	0	0	0	0	0	1	9077	1103	39	1		1	LRRTM1	2	80530750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	917	80530750	162668623	2597	12914											
LRRTM1	347730	broad.mit.edu	37	chr2	80530896	80530896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagaccacccccgaggGcctcctcagcagccagtata	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	ENST00000295057.3	-	2	705	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	17					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCCCCGAGGGCCTCCTCAGC	0.632										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(49-51)Ccc>Tcc		leucine rich repeat transmembrane neuronal 1							22	26	25					2																	80530896		2076	4202	6278	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530896G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.49C>T	2.37:g.80530896G>A	ENSP00000295057:p.Pro17Ser	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000402739.4_Intron	p.P17S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	705	-			17					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.49C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988266	0.18966	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.53857	1.1;1.1;0.77;0.6;1.56	4.46	3.57	0.40892	.	0.070231	0.56097	U	0.000023	T	0.37073	0.0990	L	0.38175	1.15	0.52501	D	0.999957	P	0.38788	0.647	B	0.28553	0.091	T	0.12785	-1.0534	9	.	.	.	.	13.6624	0.62374	0.0:0.0:0.8437:0.1562	.	17	Q86UE6	LRRT1_HUMAN	S	17	ENSP00000295057:P17S;ENSP00000386646:P17S;ENSP00000415368:P17S;ENSP00000389473:P17S;ENSP00000404557:P17S	.	P	-	1	0	LRRTM1	80384407	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.979000	0.88103	0.847000	0.35167	0.185000	0.17295	CCC		0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		76	220	0	0	0	1	0	76	220					A	80530896	G	A	80530896	3	1	79	1	0	0	0	0	1	0	0	0	9077	1203	42	2	1523	2	LRRTM1	2	80530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	80530896	162668477	2598	12915											
CTNNA2	1496	broad.mit.edu	37	chr2	80646714	80646714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccgtgagcatgccaaCaaactggtagaggtaagtgt	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000402739.4	+	8	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000466387.1_Silent_p.N426N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.N426K(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGCCAACAAACTGGTAG	0.433																																						ENST00000466387.1																			3	Substitution - Missense(3)	p.N426K(3)	upper_aerodigestive_tract(1)|lung(1)|prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1276-1278)aaC>aaT		catenin (cadherin-associated protein), alpha 2							90	91	91					2																	80646714		2033	4235	6268	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646714C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1278C>T	2.37:g.80646714C>T						CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000402739.4_Silent_p.N426N	p.N426N			P26232	CTNA2_HUMAN			13	2002	+			426					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1278C>T																																																																																					0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		20	307	0	0	0	1	0	20	307					T	80646714	C	T	80646714	2	4	79	1	0	0	0	0	0	0	0	1	4024	477	17	2		2	CTNNA2	2	80646714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115818	80646714	162552659	2599	12916											
CTNNA2	1496	broad.mit.edu	37	chr2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccagacacgagttcgacGaggttctcagaagaaacaca	9	10	1	3	rs529691509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438																																						ENST00000466387.1																			2	Substitution - Missense(2)	p.G932A(1)|p.R883P(1)	skin(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2647-2649)cGa>cAa		catenin (cadherin-associated protein), alpha 2							130	129	129					2																	80874927		1848	4090	5938	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874927G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	2.37:g.80874927G>A	ENSP00000384638:p.Arg931Gln					CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R931Q	p.R883Q			P26232	CTNA2_HUMAN			22	3372	+			931					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2648G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		143	782	0	0	0	1	0	143	782					A	80874927	G	A	80874927	3	1	79	1	0	0	0	0	1	0	0	0	4024	1058	37	1	2506	1	CTNNA2	2	80874927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228213	80874927	162324446	2600	12917											
SUCLG1	8802	broad.mit.edu	37	chr2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccaagggaatttctgCctcaatagcttcattaatgg	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	135					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(403-405)Gca>Tca		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						91	87	88					2																	84668499		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84668499C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.403G>T	2.37:g.84668499C>A	ENSP00000377446:p.Ala135Ser						p.A135S	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			4	613	-			135					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.403G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633051	0.87660	.	.	ENSG00000163541	ENST00000393868	D	0.85484	-1.99	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.048024	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82823	2.61	0.80722	D	1	D;D	0.65815	0.995;0.965	D;D	0.87578	0.998;0.955	D	0.93114	0.6519	10	0.62326	D	0.03	4.4456	17.4491	0.87587	0.0:1.0:0.0:0.0	.	135;135	B7Z438;P53597	.;SUCA_HUMAN	S	135	ENSP00000377446:A135S	ENSP00000377446:A135S	A	-	1	0	SUCLG1	84522010	1.000000	0.71417	0.982000	0.44146	0.434000	0.31775	7.769000	0.85360	2.793000	0.96121	0.561000	0.74099	GCA		0.473	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		16	371	1	0	1.02788e-11	1	1.09837e-11	16	371					A	84668499	C	A	84668499	3	1	79	1	0	0	0	0	1	0	0	0	15416	739	26	3	661	3	SUCLG1	2	84668499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3793572	84668499	158530874	2601	12918											
SUCLG1	8802	broad.mit.edu	37	chr2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccgttgctcctgtctgtTctttggcctgaaacattaac	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	109					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(325-327)gAa>gCa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						55	55	55					2																	84668576		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84668576T>G	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.326A>C	2.37:g.84668576T>G	ENSP00000377446:p.Glu109Ala						p.E109A	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			4	536	-			109					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.326A>C	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613566	0.28712	.	.	ENSG00000163541	ENST00000393868	D	0.82893	-1.66	5.89	4.72	0.59763	CoA-binding (2);NAD(P)-binding domain (1);	0.143560	0.64402	N	0.000007	T	0.68265	0.2982	N	0.16201	0.385	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.005;0.007	T	0.59558	-0.7432	10	0.17832	T	0.49	-12.6	11.4718	0.50272	0.0:0.0:0.1508:0.8492	.	109;109	B7Z438;P53597	.;SUCA_HUMAN	A	109	ENSP00000377446:E109A	ENSP00000377446:E109A	E	-	2	0	SUCLG1	84522087	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	4.131000	0.57970	1.027000	0.39758	0.459000	0.35465	GAA		0.378	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		26	167	0	0	0	1	0	26	167					G	84668576	T	G	84668576	3	3	79	1	0	0	0	0	1	0	0	0	15416	1783	62	4	738	4	SUCLG1	2	84668576	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77	84668576	158530797	2602	12919											
DNAH6	1768	broad.mit.edu	37	chr2	84777068	84777068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgcacatcttaacggtaAatgctgttaattcgcttttg	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84777068A>C	ENST00000237449.6	+	8	1380	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H	DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H|DNAH6_ENST00000389394.3_Missense_Mutation_p.N458H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	458	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAACGGTAAATGCTGTTAA	0.343																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1372-1374)Aat>Cat		dynein, axonemal, heavy chain 6							97	88	91					2																	84777068		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84777068A>C	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1372A>C	2.37:g.84777068A>C	ENSP00000237449:p.Asn458His					DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H|DNAH6_ENST00000237449.6_Missense_Mutation_p.N458H	p.N458H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			9	1509	+			458			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1372A>C	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426379	0.43020	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.88;1.76	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000011	T	0.49218	0.1544	M	0.69823	2.125	0.38970	D	0.958727	B;D	0.71674	0.109;0.998	B;D	0.65443	0.062;0.935	T	0.51036	-0.8756	10	0.46703	T	0.11	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	458;37	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	H	458	ENSP00000374045:N458H;ENSP00000381326:N458H;ENSP00000237449:N458H	ENSP00000237449:N458H	N	+	1	0	DNAH6	84630579	1.000000	0.71417	0.757000	0.31301	0.065000	0.16274	6.682000	0.74528	2.304000	0.77564	0.528000	0.53228	AAT		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		52	214	0	0	0	1	0	52	214					C	84777068	A	C	84777068	3	2	79	1	0	0	0	0	1	0	0	0	4621	14	1	4	1402	4	DNAH6	2	84777068	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108492	84777068	158422305	2603	12920											
DNAH6	1768	broad.mit.edu	37	chr2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgcaactatgaagccatCcattgttgctgttcggaatg	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811238C>T	ENST00000237449.6	+	14	2353	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000389394.3_Missense_Mutation_p.S782F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2344-2346)tCc>tTc		dynein, axonemal, heavy chain 6							200	189	193					2																	84811238		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811238C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2345C>T	2.37:g.84811238C>T	ENSP00000237449:p.Ser782Phe					DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000237449.6_Missense_Mutation_p.S782F	p.S782F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2482	+			782			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2345C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.840	0.942038	0.18281	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26373	1.74;1.87;1.74	5.73	5.73	0.89815	.	0.000000	0.43416	D	0.000567	T	0.43964	0.1271	L	0.55481	1.735	0.39048	D	0.960261	B;D	0.76494	0.022;0.999	B;D	0.69479	0.014;0.964	T	0.15636	-1.0430	10	0.10111	T	0.7	.	18.6655	0.91488	0.0:1.0:0.0:0.0	.	782;361	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	F	782	ENSP00000374045:S782F;ENSP00000381326:S782F;ENSP00000237449:S782F	ENSP00000237449:S782F	S	+	2	0	DNAH6	84664749	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.271000	0.58902	2.700000	0.92200	0.591000	0.81541	TCC		0.398	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		157	564	0	0	0	1	0	157	564					T	84811238	C	T	84811238	3	4	79	1	0	0	0	0	1	0	0	0	4621	855	30	2	2399	2	DNAH6	2	84811238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34170	84811238	158388135	2604	12921											
DNAH6	1768	broad.mit.edu	37	chr2	84811312	84811312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaagcaattttgtgtgCatttgggtagtgatcttgaa	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811312C>T	ENST00000237449.6	+	14	2427	c.2419C>T	c.(2419-2421)Cat>Tat	p.H807Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y|DNAH6_ENST00000389394.3_Missense_Mutation_p.H807Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	807	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGTGTGCATTTGGGTAG	0.348																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2419-2421)Cat>Tat		dynein, axonemal, heavy chain 6							153	143	146					2																	84811312		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811312C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2419C>T	2.37:g.84811312C>T	ENSP00000237449:p.His807Tyr					DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y|DNAH6_ENST00000237449.6_Missense_Mutation_p.H807Y	p.H807Y	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2556	+			807			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2419C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956263	0.18507	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.97;1.85	5.73	4.85	0.62838	.	0.000000	0.45126	D	0.000385	T	0.28599	0.0708	M	0.65975	2.015	0.26056	N	0.98142	B;B	0.26902	0.163;0.138	B;B	0.30716	0.119;0.037	T	0.21381	-1.0247	10	0.59425	D	0.04	.	9.391	0.38372	0.0:0.8412:0.0:0.1588	.	807;386	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	Y	807	ENSP00000374045:H807Y;ENSP00000381326:H807Y;ENSP00000237449:H807Y	ENSP00000237449:H807Y	H	+	1	0	DNAH6	84664823	0.990000	0.36364	0.953000	0.39169	0.008000	0.06430	2.566000	0.45948	2.700000	0.92200	0.591000	0.81541	CAT		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		101	385	0	0	0	1	0	101	385					T	84811312	C	T	84811312	3	4	79	1	0	0	0	0	1	0	0	0	4621	710	25	2	2473	2	DNAH6	2	84811312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	84811312	158388061	2605	12922											
TMSB10	9168	broad.mit.edu	37	chr2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcgccagcttcgataaggCcaagctgaagaaaacggaga	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	16					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582																																						ENST00000233143.4																			0				endometrium(1)	1						c.(46-48)gCc>gTc		thymosin beta 10							67	69	68					2																	85133188		2203	4300	6503	SO:0001583	missense	9168				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chr2:85133188C>T		CCDS1970.1	2p11.2	2008-02-25	2008-02-25		ENSG00000034510	ENSG00000034510			11879	protein-coding gene	gene with protein product		188399				3365256, 10487837	Standard	NM_021103		Approved	TB10	uc002sow.1	P63313	OTTHUMG00000130027	ENST00000233143.4:c.47C>T	2.37:g.85133188C>T	ENSP00000233143:p.Ala16Val						p.A16V	NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN			2	156	+			16					P13472|Q596K9	Missense_Mutation	SNP	ENST00000233143.4	37	c.47C>T	CCDS1970.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516068	0.64634	.	.	ENSG00000034510	ENST00000233143	T	0.47177	0.85	5.3	5.3	0.74995	.	0.158802	0.40908	D	0.000995	T	0.43590	0.1254	.	.	.	0.40631	D	0.981859	P	0.38300	0.626	B	0.37650	0.255	T	0.42999	-0.9418	9	0.42905	T	0.14	.	16.4497	0.83976	0.0:1.0:0.0:0.0	.	16	P63313	TYB10_HUMAN	V	16	ENSP00000233143:A16V	ENSP00000233143:A16V	A	+	2	0	TMSB10	84986699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.486000	0.83907	0.561000	0.74099	GCC		0.582	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252302.2	NM_021103		27	213	0	0	0	1	0	27	213					T	85133188	C	T	85133188	3	4	79	1	0	0	0	0	1	0	0	0	16306	739	26	2	49	2	TMSB10	2	85133188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321876	85133188	158066185	2606	12923											
TCF7L1	83439	broad.mit.edu	37	chr2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccggcaccccccagcCtgagccctgcagtgagcgtg	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	324	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCCCAGCCTGAGCCCTGC	0.652																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(970-972)Ctg>Atg		transcription factor 7-like 1 (T-cell specific, HMG-box)							42	41	41					2																	85532507		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532507C>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.970C>A	2.37:g.85532507C>A	ENSP00000282111:p.Leu324Met						p.L324M	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			8	1245	+			324			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.970C>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397591	0.11638	.	.	ENSG00000152284	ENST00000282111	D	0.98280	-4.84	5.18	4.22	0.49857	.	0.260583	0.36519	N	0.002558	D	0.93119	0.7809	N	0.08118	0	0.28925	N	0.891913	B	0.10296	0.003	B	0.06405	0.002	D	0.87903	0.2692	10	0.46703	T	0.11	.	9.6936	0.40143	0.3492:0.6508:0.0:0.0	.	324	Q9HCS4	TF7L1_HUMAN	M	324	ENSP00000282111:L324M	ENSP00000282111:L324M	L	+	1	2	TCF7L1	85386018	0.915000	0.31059	1.000000	0.80357	0.043000	0.13939	0.246000	0.18160	2.401000	0.81631	0.591000	0.81541	CTG		0.652	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		12	271	1	0	6.40141e-05	1	6.5221e-05	12	271					A	85532507	C	A	85532507	3	1	79	1	0	0	0	0	1	0	0	0	15749	680	24	3	1000	3	TCF7L1	2	85532507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399319	85532507	157666866	2607	12924											
TCF7L1	83439	broad.mit.edu	37	chr2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcctgtcggctaaggCtgcagcctcctcctctgggc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	527					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1579-1581)gCt>gTt		transcription factor 7-like 1 (T-cell specific, HMG-box)							30	30	30					2																	85536398		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536398C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1580C>T	2.37:g.85536398C>T	ENSP00000282111:p.Ala527Val						p.A527V	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1855	+			527					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1580C>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688751	0.48097	.	.	ENSG00000152284	ENST00000282111	D	0.98567	-5.0	5.36	3.56	0.40772	.	0.976044	0.08419	N	0.948663	D	0.95762	0.8621	L	0.40543	1.245	0.37249	D	0.906489	B	0.18310	0.027	B	0.08055	0.003	D	0.91369	0.5118	10	0.33141	T	0.24	.	9.1199	0.36780	0.0:0.7715:0.1479:0.0806	.	527	Q9HCS4	TF7L1_HUMAN	V	527	ENSP00000282111:A527V	ENSP00000282111:A527V	A	+	2	0	TCF7L1	85389909	1.000000	0.71417	0.777000	0.31699	0.606000	0.37113	6.588000	0.74076	0.829000	0.34733	-0.136000	0.14681	GCT		0.692	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		87	257	0	0	0	1	0	87	257					T	85536398	C	T	85536398	3	4	79	1	0	0	0	0	1	0	0	0	15749	797	28	2	1626	2	TCF7L1	2	85536398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3891	85536398	157662975	2608	12925											
RETSAT	54884	broad.mit.edu	37	chr2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaattctttttcttctgtgCccggatcctagaatcaagat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	605					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1813-1815)Gca>Aca		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						106	109	108					2																	85570385		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570385C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1813G>A	2.37:g.85570385C>T	ENSP00000295802:p.Ala605Thr					RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	p.A605T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			11	1925	-			605					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1813G>A	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779182	0.02929	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.22945	1.94;1.93	4.79	3.0	0.34707	.	0.908581	0.09485	N	0.795783	T	0.26412	0.0645	M	0.73598	2.24	0.09310	N	0.999998	B;B;B	0.19445	0.036;0.036;0.021	B;B;B	0.14023	0.01;0.01;0.008	T	0.39035	-0.9633	10	0.15499	T	0.54	-1.6443	6.3913	0.21589	0.0:0.7056:0.0:0.2944	.	544;544;605	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	605;544	ENSP00000295802:A605T;ENSP00000405040:A544T	ENSP00000295802:A605T	A	-	1	0	RETSAT	85423896	0.068000	0.21057	0.140000	0.22221	0.035000	0.12851	0.503000	0.22610	0.634000	0.30469	0.561000	0.74099	GCA		0.512	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		57	570	0	0	0	1	0	57	570					T	85570385	C	T	85570385	3	4	79	1	0	0	0	0	1	0	0	0	13288	739	26	2	23	2	RETSAT	2	85570385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33987	85570385	157628988	2609	12926											
RETSAT	54884	broad.mit.edu	37	chr2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccttacctgtgtcaaattCaaggccattctttccaaagg	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	115					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(343-345)Gaa>Aaa		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						138	121	127					2																	85578815		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85578815C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.343G>A	2.37:g.85578815C>T	ENSP00000295802:p.Glu115Lys					RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			2	455	-			115					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.343G>A	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690342	0.96793	.	.	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.58506	0.33;0.33	5.38	5.38	0.77491	.	0.056021	0.64402	D	0.000001	T	0.55986	0.1955	N	0.10945	0.07	0.80722	D	1	P	0.48503	0.911	P	0.57244	0.816	T	0.63857	-0.6542	10	0.62326	D	0.03	-13.4847	16.6368	0.85061	0.0:1.0:0.0:0.0	.	115	Q6NUM9	RETST_HUMAN	K	115	ENSP00000295802:E115K;ENSP00000263854:E115K	ENSP00000263854:E115K	E	-	1	0	RETSAT	85432326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.637000	0.83313	2.532000	0.85374	0.655000	0.94253	GAA		0.507	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		166	468	0	0	0	1	0	166	468					T	85578815	C	T	85578815	3	4	79	1	0	0	0	0	1	0	0	0	13288	835	29	2	1529	2	RETSAT	2	85578815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8430	85578815	157620558	2610	12927											
ELMOD3	84173	broad.mit.edu	37	chr2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaatccagccaactattCgaaggactgggctcgccgcc	10	13	0	1	rs562825417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	ENST00000409890.2	+	9	1049	c.382C>T	c.(382-384)Cga>Tga	p.R128*	RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	128					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(382-384)Cga>Tga		ELMO/CED-12 domain containing 3							115	121	119					2																	85598230		2203	4300	6503	SO:0001587	stop_gained	84173				phagocytosis	cytoskeleton		g.chr2:85598230C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.382C>T	2.37:g.85598230C>T	ENSP00000386304:p.Arg128*					ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.R128*	p.R128*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			7	641	+			128					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Nonsense_Mutation	SNP	ENST00000409890.2	37	c.382C>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.801465	0.99267	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	.	.	.	5.82	5.82	0.92795	.	0.188144	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.6175	17.5939	0.88005	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000318264:R128X	R	+	1	2	ELMOD3	85451741	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	6.823000	0.75282	2.760000	0.94817	0.655000	0.94253	CGA		0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		38	1019	0	0	0	1	0	38	1019					T	85598230	C	T	85598230	4	4	79	1	0	0	0	0	0	1	0	0	5088	876	31	1	404	1	ELMOD3	2	85598230	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19415	85598230	157601143	2611	12928											
GGCX	2677	broad.mit.edu	37	chr2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacgtgctggtgggagcGggagtgcaccatcatgtccc	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000430215.3_Missense_Mutation_p.R349C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	406					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TGGTGGGAGCGGGAGTGCACC	0.542																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1216-1218)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						187	164	172					2																	85780133		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85780133G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1216C>T	2.37:g.85780133G>A	ENSP00000233838:p.Arg406Cys					GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R349C	p.R406C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			9	1296	-			406					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1216C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359350	0.82353	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76071	0.987;0.905;0.964	D	0.96178	0.9128	10	0.56958	D	0.05	-17.0852	16.974	0.86309	0.0:0.0:1.0:0.0	.	349;245;406	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	406;349	ENSP00000233838:R406C;ENSP00000408045:R349C	ENSP00000233838:R406C	R	-	1	0	GGCX	85633644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.033000	0.93741	2.601000	0.87937	0.655000	0.94253	CGC		0.542	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		99	538	0	0	0	1	0	99	538					A	85780133	G	A	85780133	3	1	79	1	0	0	0	0	1	0	0	0	6385	1116	39	1	1088	1	GGCX	2	85780133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181903	85780133	157419240	2612	12929											
TMEM150A	129303	broad.mit.edu	37	chr2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttcgcagataggccacaGccaggtccagcggggcggtg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D|TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D			Q86TG1	T150A_HUMAN	transmembrane protein 150A	173					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(517-519)gCt>gAt		transmembrane protein 150A							74	73	74					2																	85826704		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85826704G>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.518C>A	2.37:g.85826704G>T	ENSP00000387292:p.Ala173Asp					TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D	p.A173D			Q86TG1	T150A_HUMAN			6	985	-			173					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.518C>A	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784993	0.31593	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.44083	0.93;0.93;0.93	5.23	4.35	0.52113	.	0.105109	0.64402	D	0.000002	T	0.32285	0.0824	L	0.47716	1.5	0.26903	N	0.967064	P;B	0.39404	0.672;0.154	B;B	0.35073	0.195;0.124	T	0.13072	-1.0523	10	0.18710	T	0.47	-31.071	11.5548	0.50741	0.0878:0.0:0.9122:0.0	.	120;173	Q86TG1-2;Q86TG1	.;T150A_HUMAN	D	120;173;173	ENSP00000302715:A120D;ENSP00000334708:A173D;ENSP00000387292:A173D	ENSP00000302715:A120D	A	-	2	0	TMEM150A	85680215	0.923000	0.31300	0.960000	0.40013	0.986000	0.74619	1.599000	0.36751	1.200000	0.43188	0.561000	0.74099	GCT		0.612	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		110	315	1	0	6.2294e-58	1	7.80558e-58	110	315					T	85826704	G	T	85826704	3	4	79	1	0	0	0	0	1	0	0	0	16119	971	34	3	305	3	TMEM150A	2	85826704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46571	85826704	157372669	2613	12930											
TMEM150A	129303	broad.mit.edu	37	chr2	85827121	85827121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggagctgcccgtagcGcaggaggcagatcagggcca	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85827121G>A	ENST00000409668.1	-	5	756	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C|TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	97					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TGCCCGTAGCGCAGGAGGCAG	0.652																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(289-291)Cgc>Tgc		transmembrane protein 150A							72	63	66					2																	85827121		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85827121G>A	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.289C>T	2.37:g.85827121G>A	ENSP00000387292:p.Arg97Cys					TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C	p.R97C			Q86TG1	T150A_HUMAN			5	756	-			97					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.289C>T	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195609	0.78902	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668;ENST00000425160	T;T;T	0.51817	0.69;0.69;0.69	5.79	5.79	0.91817	.	0.048755	0.85682	D	0.000000	T	0.72930	0.3522	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.68943	0.629;0.961	T	0.78545	-0.2163	10	0.87932	D	0	-40.4071	12.4743	0.55803	0.0:0.0:0.8329:0.1671	.	44;97	Q86TG1-2;Q86TG1	.;T150A_HUMAN	C	44;97;97;44	ENSP00000302715:R44C;ENSP00000334708:R97C;ENSP00000387292:R97C	ENSP00000302715:R44C	R	-	1	0	TMEM150A	85680632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.736000	0.93811	0.561000	0.74099	CGC		0.652	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		9	327	0	0	0	1	0	9	327					A	85827121	G	A	85827121	3	1	79	1	0	0	0	0	1	0	0	0	16119	1087	38	1	538	1	TMEM150A	2	85827121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	85827121	157372252	2614	12931											
SFTPB	6439	broad.mit.edu	37	chr2	85890797	85890797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctcacttgggccagcGctgtcatccatggagcaccg	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000519937.2	-	7	865	c.846C>T	c.(844-846)agC>agT	p.S282S	SFTPB_ENST00000342375.3_Silent_p.S282S|SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000393822.3_Silent_p.S294S			P07988	PSPB_HUMAN	surfactant protein B	282					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662																																						ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(880-882)agC>agT		surfactant protein B							24	28	27					2																	85890797		2199	4298	6497	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890797G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.846C>T	2.37:g.85890797G>A						SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000519937.2_Silent_p.S282S|SFTPB_ENST00000342375.3_Silent_p.S282S	p.S294S			P07988	PSPB_HUMAN			8	981	-			282					Q96R04	Silent	SNP	ENST00000519937.2	37	c.882C>T		.	.	.	.	.	.	.	.	.	.	G	4.191	0.034165	0.08101	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	1.4	0.22301	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	2.0E-4	4.0805	0.09924	0.2665:0.0:0.571:0.1625	.	.	.	.	C	279	.	.	R	-	1	0	SFTPB	85744308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	-0.020000	0.14032	0.561000	0.74099	CGC		0.662	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		30	61	0	0	0	1	0	30	61					A	85890797	G	A	85890797	2	1	79	1	0	0	0	0	0	0	0	1	14241	1078	38	1		1	SFTPB	2	85890797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63676	85890797	157308576	2615	12932											
ST3GAL5	8869	broad.mit.edu	37	chr2	86094728	86094728	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgtgtgatggggacttacGaacagaagccatgtcctggg	14	8	0	2	rs201747823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86094728G>A	ENST00000377332.3	-	2	191				ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000525834.2_Intron|ST3GAL5_ENST00000393808.3_Splice_Site_p.P5S|ST3GAL5_ENST00000393805.1_Intron	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5						carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ggggacttacgaacagaagcc	0.522																																						ENST00000393808.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.e1+1		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							71	77	75					2																	86094728		2050	4196	6246	SO:0001627	intron_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86094728G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.83-4120C>T	2.37:g.86094728G>A						ST3GAL5_ENST00000393805.1_Intron|ST3GAL5_ENST00000377332.3_Intron|ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000525834.2_Intron	p.P5_splice	NM_001042437.1	NP_001035902.1	Q9UNP4	SIAT9_HUMAN			1	49	-			0					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Splice_Site	SNP	ENST00000377332.3	37	c.13_splice	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517282	0.00975	.	.	ENSG00000115525	ENST00000393808	T	0.27557	1.66	0.158	-0.317	0.12736	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	6	.	.	.	.	.	.	.	.	5	Q9UNP4-3	.	S	5	ENSP00000377397:P5S	.	P	-	1	0	ST3GAL5	85948239	0.004000	0.15560	0.008000	0.14137	0.008000	0.06430	-0.542000	0.06091	-1.029000	0.03317	-1.021000	0.02439	CCA		0.522	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		55	159	0	0	0	1	0	55	159					A	86094728	G	A	86094728	1	1	79	0	1	0	0	0	0	0	0	0	15270	1072	37	1		1	ST3GAL5	2	86094728	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203931	86094728	157104645	2616	12933											
POLR1A	25885	broad.mit.edu	37	chr2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagacgttacctcccccaaGcacaccctggtgagttgctt	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1289					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCCCCCAAGCACACCCTGG	0.537																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(3865-3867)tgC>tgA		polymerase (RNA) I polypeptide A, 194kDa							194	196	195					2																	86266459		1961	4156	6117	SO:0001587	stop_gained	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86266459G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3867C>A	2.37:g.86266459G>T	ENSP00000263857:p.Cys1289*					POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*	p.C1289*			O95602	RPA1_HUMAN			26	4245	-			1289					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.3867C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	45	11.307215	0.99545	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-24.0429	14.2295	0.65882	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1289	.	ENSP00000263857:C1289X	C	-	3	2	POLR1A	86119970	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.664000	0.54525	1.373000	0.46208	0.655000	0.94253	TGC		0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		197	1062	1	0	1.56929e-64	1	1.98263e-64	197	1062					T	86266459	G	T	86266459	4	4	79	1	0	0	0	0	0	1	0	0	12251	963	34	3	1331	3	POLR1A	2	86266459	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171731	86266459	156932914	2617	12934											
POLR1A	25885	broad.mit.edu	37	chr2	86281383	86281383	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgggatgtggtcctctggGattatatttatgagcagcgt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.I696I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	696					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCCTCTGGGATTATATTTA	0.453																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2086-2088)atC>atA		polymerase (RNA) I polypeptide A, 194kDa							99	98	98					2																	86281383		1917	4140	6057	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86281383G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2088C>A	2.37:g.86281383G>T						POLR1A_ENST00000409681.1_Silent_p.I696I|POLR1A_ENST00000483538.1_5'UTR	p.I696I			O95602	RPA1_HUMAN			15	2466	-			696					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2088C>A	CCDS42706.1																																																																																				0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		42	144	1	0	7.66079e-34	1	9.09671e-34	42	144					T	86281383	G	T	86281383	2	4	79	1	0	0	0	0	0	0	0	1	12251	1164	41	3		3	POLR1A	2	86281383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14924	86281383	156917990	2618	12935											
POLR1A	25885	broad.mit.edu	37	chr2	86302248	86302248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccacagcgctcagggCtgtgcggctgccgtcctcat	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	ENST00000263857.6	-	12	1894	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	506					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCGCTCAGGGCTGTGCGGCTG	0.602																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1516-1518)Gcc>Acc		polymerase (RNA) I polypeptide A, 194kDa							34	37	36					2																	86302248		2039	4198	6237	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86302248C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1516G>A	2.37:g.86302248C>T	ENSP00000263857:p.Ala506Thr					POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T	p.A506T			O95602	RPA1_HUMAN			12	1894	-			506					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1516G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513454	0.44660	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65916	-0.18;-0.18	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.221836	0.46758	D	0.000277	T	0.46658	0.1404	N	0.17474	0.49	0.32586	N	0.527869	P	0.36086	0.536	B	0.42738	0.396	T	0.52396	-0.8581	10	0.14252	T	0.57	-23.0664	8.9405	0.35727	0.0:0.8361:0.0:0.1639	.	506	O95602	RPA1_HUMAN	T	506	ENSP00000263857:A506T;ENSP00000386300:A506T	ENSP00000263857:A506T	A	-	1	0	POLR1A	86155759	0.994000	0.37717	0.947000	0.38551	0.872000	0.50106	2.731000	0.47343	2.606000	0.88127	0.655000	0.94253	GCC		0.602	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	140	0	0	0	1	0	7	140					T	86302248	C	T	86302248	3	4	79	1	0	0	0	0	1	0	0	0	12251	797	28	2	3738	2	POLR1A	2	86302248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	86302248	156897125	2619	12936											
POLR1A	25885	broad.mit.edu	37	chr2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggcagaaaggtgttcgCgggcactggtgggtgttaag	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	262					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAGGTGTTCGCGGGCACTGGT	0.453																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(784-786)cGc>cAc		polymerase (RNA) I polypeptide A, 194kDa							117	114	115					2																	86310237		1889	4120	6009	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86310237C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.785G>A	2.37:g.86310237C>T	ENSP00000263857:p.Arg262His					POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H	p.R262H			O95602	RPA1_HUMAN			7	1163	-			262					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.785G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450496	0.63290	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68331	-0.32;-0.32	5.87	2.42	0.29668	RNA polymerase Rpb1, domain 1 (1);	0.328020	0.31660	N	0.007274	T	0.77370	0.4120	M	0.77616	2.38	0.37966	D	0.933144	D;D	0.76494	0.999;0.995	D;D	0.67900	0.954;0.924	T	0.76828	-0.2815	10	0.52906	T	0.07	-2.0575	8.4647	0.32949	0.0:0.4019:0.0:0.5981	.	262;262	B9ZVN9;O95602	.;RPA1_HUMAN	H	262	ENSP00000263857:R262H;ENSP00000386300:R262H	ENSP00000263857:R262H	R	-	2	0	POLR1A	86163748	0.591000	0.26824	0.563000	0.28383	0.945000	0.59286	0.222000	0.17699	0.151000	0.19162	0.655000	0.94253	CGC		0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		70	220	0	0	0	1	0	70	220					T	86310237	C	T	86310237	3	4	79	1	0	0	0	0	1	0	0	0	12251	768	27	1	4489	1	POLR1A	2	86310237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7989	86310237	156889136	2620	12937											
POLR1A	25885	broad.mit.edu	37	chr2	86325797	86325797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacttccagaaccctcagCtggcagagtaagaggtgaat	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	123					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAACCCTCAGCTGGCAGAGTA	0.532																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(367-369)caG>caA		polymerase (RNA) I polypeptide A, 194kDa							147	149	149					2																	86325797		1920	4123	6043	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86325797C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.369G>A	2.37:g.86325797C>T						POLR1A_ENST00000409681.1_Silent_p.Q123Q	p.Q123Q			O95602	RPA1_HUMAN			3	747	-			123					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.369G>A	CCDS42706.1																																																																																				0.532	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		207	908	0	0	0	1	0	207	908					T	86325797	C	T	86325797	2	4	79	1	0	0	0	0	0	0	0	1	12251	796	28	2		2	POLR1A	2	86325797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15560	86325797	156873576	2621	12938											
PTCD3	55037	broad.mit.edu	37	chr2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgctaagacacatgGttgcacagaaggtgaaacca	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	324					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(970-972)Gtt>Att		pentatricopeptide repeat domain 3							81	80	80					2																	86354302		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86354302G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.970G>A	2.37:g.86354302G>A	ENSP00000254630:p.Val324Ile					PTCD3_ENST00000409277.3_3'UTR	p.V324I	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			13	1036	+			324					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.970G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503453	0.44558	.	.	ENSG00000132300	ENST00000254630	T	0.30714	1.52	6.17	3.38	0.38709	.	0.778290	0.13001	N	0.421650	T	0.21550	0.0519	L	0.35341	1.055	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.03829	-1.1000	10	0.21014	T	0.42	-3.1906	8.4877	0.33082	0.1352:0.0:0.7394:0.1253	.	324	Q96EY7	PTCD3_HUMAN	I	324	ENSP00000254630:V324I	ENSP00000254630:V324I	V	+	1	0	PTCD3	86207813	0.996000	0.38824	0.978000	0.43139	0.963000	0.63663	2.311000	0.43717	0.922000	0.37019	0.655000	0.94253	GTT		0.368	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		33	271	0	0	0	1	0	33	271					A	86354302	G	A	86354302	3	1	79	1	0	0	0	0	1	0	0	0	12776	1261	44	2	1020	2	PTCD3	2	86354302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28505	86354302	156845071	2622	12939											
IMMT	10989	broad.mit.edu	37	chr2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatttctggtttcatcaAtcattgctacccttcgggcc	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	648					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1942-1944)aTt>aCt		inner membrane protein, mitochondrial							125	121	122					2																	86371725		1887	4114	6001	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371725A>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1943T>C	2.37:g.86371725A>G	ENSP00000387262:p.Ile648Thr					IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T	p.I648T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			15	2330	-			648					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1943T>C	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894088	0.52121	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.39	4.24	0.50183	.	0.094982	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.991;0.982;0.995	T	0.62685	-0.6802	10	0.87932	D	0	-7.5923	11.2772	0.49174	0.9289:0.0:0.0711:0.0	.	601;636;637;616;648	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	T	549;637;648;647;601;637;616;262;549	ENSP00000254636:I549T;ENSP00000396899:I637T;ENSP00000387262:I648T;ENSP00000407788:I647T;ENSP00000387227:I601T	ENSP00000254636:I549T	I	-	2	0	IMMT	86225236	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.139000	0.94554	1.075000	0.40932	0.529000	0.55759	ATT		0.532	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		93	539	0	0	0	1	0	93	539					G	86371725	A	G	86371725	3	3	79	1	0	0	0	0	1	0	0	0	7748	101	4	4	337	4	IMMT	2	86371725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17423	86371725	156827648	2623	12940											
REEP1	65055	broad.mit.edu	37	chr2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgctgaagctccgcagtCtctccgataaggcaccctgt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	147					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(439-441)aGa>aTa		receptor accessory protein 1							42	36	38					2																	86459903		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459903C>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.440G>T	2.37:g.86459903C>A	ENSP00000165698:p.Arg147Ile					REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y	p.R147I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	583	-			147					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.440G>T	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765722|4.765722	0.90020|0.90020	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000541910;ENST00000437769|ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D|D;D;D;D;D;D	0.93604|0.88664	-3.25;-3.22|-2.39;-2.41;-1.56;-1.56;-2.38;-1.67	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.045059	.|0.85682	.|D	.|0.000000	D|D	0.91895|0.91895	0.7434|0.7434	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	D|P;D;P	0.61080|0.52996	0.989|0.928;0.957;0.928	P|P;P;P	0.55667|0.56960	0.781|0.65;0.81;0.753	D|D	0.89980|0.89980	0.4100|0.4100	9|10	0.87932|0.32370	D|T	0|0.25	.|.	17.0395|17.0395	0.86484|0.86484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|120;126;147	B7Z4D7|B7Z5R9;F5H7Z9;Q9H902	.|.;.;REEP1_HUMAN	Y|I	69|147;154;120;126;154;120	ENSP00000442681:D69Y;ENSP00000401140:D69Y|ENSP00000165698:R147I;ENSP00000438346:R154I;ENSP00000437567:R120I;ENSP00000443831:R126I;ENSP00000392197:R154I;ENSP00000400607:R120I	ENSP00000401140:D69Y|ENSP00000165698:R147I	D|R	-|-	1|2	0|0	REEP1|REEP1	86313414|86313414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.875000|3.875000	0.56108|0.56108	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.667	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		60	160	1	0	2.22609e-26	1	2.56449e-26	60	160					A	86459903	C	A	86459903	3	1	79	1	0	0	0	0	1	0	0	0	13254	913	32	3	234	3	REEP1	2	86459903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88178	86459903	156739470	2624	12941											
KDM3A	55818	broad.mit.edu	37	chr2	86716673	86716673	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccatccaagatggagattCtgacgaactcacaataaagc	8	10	2	3	rs149432098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86716673C>A	ENST00000409556.1	+	24	3829	c.3464C>A	c.(3463-3465)tCt>tAt	p.S1155Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1155	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATGGAGATTCTGACGAACTC	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(3463-3465)tCt>tAt		lysine (K)-specific demethylase 3A							83	78	80					2																	86716673		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86716673C>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3464C>A	2.37:g.86716673C>A	ENSP00000386660:p.Ser1155Tyr					KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y	p.S1155Y			Q9Y4C1	KDM3A_HUMAN			24	3829	+			1155			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.3464C>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982435	0.74474	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.4	4.47	0.54385	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.166790	0.42682	D	0.000664	T	0.74566	0.3733	N	0.19112	0.55	0.43377	D	0.995473	D;D	0.58970	0.984;0.984	P;P	0.61592	0.891;0.861	T	0.75439	-0.3317	10	0.42905	T	0.14	.	15.8767	0.79170	0.0:0.8649:0.1351:0.0	.	1103;1155	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	1155;1155;1155;1155;1103	ENSP00000386660:S1155Y;ENSP00000323659:S1155Y;ENSP00000386516:S1155Y;ENSP00000438324:S1103Y	ENSP00000323659:S1155Y	S	+	2	0	KDM3A	86570184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.604000	0.61112	2.692000	0.91855	0.655000	0.94253	TCT		0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		12	315	1	0	7.03913e-09	1	7.37812e-09	12	315					A	86716673	C	A	86716673	3	1	79	1	0	0	0	0	1	0	0	0	8156	913	32	3	3550	3	KDM3A	2	86716673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256770	86716673	156482700	2625	12942											
RNF103	7844	broad.mit.edu	37	chr2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccttcctttcacatgggCtggtctgacaatatttattg	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	586					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1756-1758)aGc>aTc		ring finger protein 103							191	182	185					2																	86831267		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831267C>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1757G>T	2.37:g.86831267C>A	ENSP00000237455:p.Ser586Ile					AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	p.S586I	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2725	-			586					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1757G>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580949	0.13686	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.51	4.63	0.57726	.	0.566379	0.20534	N	0.090448	T	0.29028	0.0721	N	0.22421	0.69	0.35951	D	0.833929	B	0.19583	0.037	B	0.17433	0.018	T	0.25882	-1.0119	10	0.49607	T	0.09	-1.1683	9.7379	0.40399	0.0:0.8259:0.0:0.1741	.	586	O00237	RN103_HUMAN	I	586	ENSP00000237455:S586I	ENSP00000237455:S586I	S	-	2	0	RNF103	86684778	0.861000	0.29849	0.998000	0.56505	0.363000	0.29612	1.594000	0.36697	1.329000	0.45376	0.460000	0.39030	AGC		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		284	835	1	0	5.94848e-79	1	7.60071e-79	284	835					A	86831267	C	A	86831267	3	1	79	1	0	0	0	0	1	0	0	0	13473	797	28	3	304	3	RNF103	2	86831267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114594	86831267	156368106	2626	12943											
RNF103	7844	broad.mit.edu	37	chr2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcccttacccatgaaGccagtgtggttgtattggaa	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	403					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1207-1209)gCt>gAt		ring finger protein 103							84	87	86					2																	86831816		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831816G>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1208C>A	2.37:g.86831816G>T	ENSP00000237455:p.Ala403Asp					AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA	p.A403D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2176	-			403					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1208C>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882521	0.72294	.	.	ENSG00000239305	ENST00000237455	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70193	-0.4939	10	0.87932	D	0	-14.2447	19.5934	0.95525	0.0:0.0:1.0:0.0	.	403	O00237	RN103_HUMAN	D	403	ENSP00000237455:A403D	ENSP00000237455:A403D	A	-	2	0	RNF103	86685327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	GCT		0.398	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		65	316	1	0	4.64241e-40	1	5.62287e-40	65	316					T	86831816	G	T	86831816	3	4	79	1	0	0	0	0	1	0	0	0	13473	971	34	3	853	3	RNF103	2	86831816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	86831816	156367557	2627	12944											
RMND5A	64795	broad.mit.edu	37	chr2	87000470	87000470	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttttcttctttgtctttaGattaaaatgtccctactgtc	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)											kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328																																						ENST00000283632.4																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.e9-1		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							105	106	106					2																	87000470		2203	4300	6503	SO:0001630	splice_region_variant	64795							g.chr2:87000470G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1113-1G>A	2.37:g.87000470G>A						RMND5A_ENST00000472843.1_Splice_Site		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN			9	1607	+								D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Splice_Site	SNP	ENST00000283632.4	37		CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338521	0.41398	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1808	0.65574	0.0725:0.0:0.9275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RMND5A	86853981	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	9.468000	0.97676	1.377000	0.46286	-0.251000	0.11542	.		0.328	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780	Intron	46	252	0	0	0	1	0	46	252					A	87000470	G	A	87000470	5	1	79	1	0	0	0	0	0	0	1	0	13447	956	33	2	1146	2	RMND5A	2	87000470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168654	87000470	156198903	2628	12945											
KRCC1	51315	broad.mit.edu	37	chr2	88327535	88327536	+	Frame_Shift_Ins	INS	-	-	T													taagtcaatttcctcgcagcINSttttttttctcttatgctta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88327535_88327536insT	ENST00000347055.3	-	4	940_941	c.547_548insA	c.(547-549)agcfs	p.S183fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	183	Lys-rich.							p.S183fs*7(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCCTCGCAGCTTTTTTTTCTC	0.411																																						ENST00000347055.3																			1	Deletion - Frameshift(1)	p.S183fs*7(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(547-549)ctgfs		lysine-rich coiled-coil 1																																				SO:0001589	frameshift_variant	51315							g.chr2:88327535_88327536insT	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.548dupA	2.37:g.88327543_88327543dupT	ENSP00000340083:p.Ser183fs						p.L183fs	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	940_941	-			183			Lys-rich.		Q3B7J7	Frame_Shift_Ins	INS	ENST00000347055.3	37	c.547_548insA	CCDS2000.1																																																																																				0.411	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		11	735						11	735	---	---	---	---	T	88327536	-	T	88327535	7	5	79	1	0	1	1	0	0	0	0	0	8471	797	28	0	235	0	KRCC1	2	88327535	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1327065	88327535	154871838	2629	12946											
KRCC1	51315	broad.mit.edu	37	chr2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggctctaagcctctgGctttctgtactttaatataa	6	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(70-72)gCc>gTc		lysine-rich coiled-coil 1							41	43	42					2																	88328012		2203	4299	6502	SO:0001583	missense	51315							g.chr2:88328012G>A	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.71C>T	2.37:g.88328012G>A	ENSP00000340083:p.Ala24Val						p.A24V	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	464	-			24					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.71C>T	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613043	0.87258	.	.	ENSG00000172086	ENST00000347055	T	0.54479	0.57	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.72070	0.3415	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.87932	D	0	-1.79	17.6132	0.88060	0.0:0.0:1.0:0.0	.	24	Q9NPI7	KRCC1_HUMAN	V	24	ENSP00000340083:A24V	ENSP00000340083:A24V	A	-	2	0	KRCC1	88109127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.961000	0.76042	2.759000	0.94783	0.650000	0.86243	GCC		0.378	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		73	264	0	0	0	1	0	73	264					A	88328012	G	A	88328012	3	1	79	1	0	0	0	0	1	0	0	0	8471	1203	42	2	712	2	KRCC1	2	88328012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477	88328012	154871361	2630	12947											
KRCC1	51315	broad.mit.edu	37	chr2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcttgaaaagagtcaTatgtcttctttgaatgcttc	7	7	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(22-24)tAt>tGt		lysine-rich coiled-coil 1							33	35	34					2																	88328060		2201	4298	6499	SO:0001583	missense	51315							g.chr2:88328060T>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.23A>G	2.37:g.88328060T>C	ENSP00000340083:p.Tyr8Cys						p.Y8C	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	416	-			8					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.23A>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.915994	0.52546	.	.	ENSG00000172086	ENST00000347055	T	0.38560	1.13	5.99	1.73	0.24493	.	0.366091	0.24720	N	0.036157	T	0.57110	0.2031	M	0.75777	2.31	0.44995	D	0.998013	D	0.89917	1.0	D	0.66497	0.944	T	0.57283	-0.7838	10	0.72032	D	0.01	.	8.1035	0.30872	0.1264:0.0:0.2328:0.6408	.	8	Q9NPI7	KRCC1_HUMAN	C	8	ENSP00000340083:Y8C	ENSP00000340083:Y8C	Y	-	2	0	KRCC1	88109175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.751000	0.38339	0.477000	0.27464	0.533000	0.62120	TAT		0.363	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		54	217	0	0	0	1	0	54	217					C	88328060	T	C	88328060	3	2	79	1	0	0	0	0	1	0	0	0	8471	1406	49	4	760	4	KRCC1	2	88328060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48	88328060	154871313	2631	12948											
SMYD1	150572	broad.mit.edu	37	chr2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcccattactgcgaccGcacctgccagaaggatgctt	10	13	0	1	rs556249832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000419482.2	+	2	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|MIR4780_ENST00000584268.1_RNA	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	76	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACTGCGACCGCACCTGCCAG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(226-228)cGc>cAc		SET and MYND domain containing 1							111	93	99					2																	88383924		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88383924G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.227G>A	2.37:g.88383924G>A	ENSP00000393453:p.Arg76His					SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR	p.R76H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			2	312	+			76					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.227G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173281	0.94807	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.15718	2.4;2.4;2.4	5.63	5.63	0.86233	SET domain (2);Zinc finger, MYND-type (3);	0.057799	0.64402	D	0.000002	T	0.46268	0.1384	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.91	T	0.45145	-0.9281	10	0.56958	D	0.05	-22.6217	18.6665	0.91492	0.0:0.0:1.0:0.0	.	76;76	Q8NB12;C9JUP3	SMYD1_HUMAN;.	H	76	ENSP00000393453:R76H;ENSP00000407888:R76H;ENSP00000387482:R76H	ENSP00000393453:R76H	R	+	2	0	SMYD1	88165039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.655000	0.90218	0.555000	0.69702	CGC		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		98	369	0	0	0	1	0	98	369					A	88383924	G	A	88383924	3	1	79	1	0	0	0	0	1	0	0	0	14871	1087	38	1	233	1	SMYD1	2	88383924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55864	88383924	154815449	2632	12949											
SMYD1	150572	broad.mit.edu	37	chr2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacattcttgcagtactgGccgccgcagagccagcagtt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000419482.2	+	3	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	158	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACTGGCCGCCGCAGA	0.607																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(472-474)tgG>tgA		SET and MYND domain containing 1							121	84	97					2																	88387540		2203	4300	6503	SO:0001587	stop_gained	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387540G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.474G>A	2.37:g.88387540G>A	ENSP00000393453:p.Trp158*					SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	p.W158*	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	559	+			158			SET.		A0AV30|A6NE13	Nonsense_Mutation	SNP	ENST00000419482.2	37	c.474G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	37	6.020194	0.97211	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5508	17.7216	0.88353	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000393453:W158X	W	+	3	0	SMYD1	88168655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.481000	0.83766	0.561000	0.74099	TGG		0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		95	297	0	0	0	1	0	95	297					A	88387540	G	A	88387540	4	1	79	1	0	0	0	0	0	1	0	0	14871	1212	42	2	484	2	SMYD1	2	88387540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	88387540	154811833	2633	12950											
SMYD1	150572	broad.mit.edu	37	chr2	88405903	88405903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtttgctgacaccaaCatctacatgctgcggatgct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000419482.2	+	8	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_ENST00000444564.2_Silent_p.N334N|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	347					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGACACCAACATCTACATGC	0.552																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1039-1041)aaC>aaT		SET and MYND domain containing 1							182	137	152					2																	88405903		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405903C>T	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1041C>T	2.37:g.88405903C>T						SMYD1_ENST00000444564.2_Silent_p.N334N|SMYD1_ENST00000438570.1_Intron	p.N347N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			8	1126	+			347					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.1041C>T	CCDS33240.1																																																																																				0.552	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		46	233	0	0	0	1	0	46	233					T	88405903	C	T	88405903	2	4	79	1	0	0	0	0	0	0	0	1	14871	477	17	2		2	SMYD1	2	88405903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18363	88405903	154793470	2634	12951											
THNSL2	55258	broad.mit.edu	37	chr2	88474333	88474333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggagaagagggagaaGcacgtcactgtggttgtagg	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000324166.5	+	2	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	133					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)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(397-399)aaG>aaA		threonine synthase-like 2 (S. cerevisiae)							176	137	150					2																	88474333		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474333G>A		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.399G>A	2.37:g.88474333G>A						THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000343544.4_Silent_p.K133K	p.K133K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			2	2090	+			133					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.399G>A	CCDS2002.2																																																																																				0.512	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		102	326	0	0	0	1	0	102	326					A	88474333	G	A	88474333	2	1	79	1	0	0	0	0	0	0	0	1	15915	962	34	2		2	THNSL2	2	88474333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68430	88474333	154725040	2635	12952											
THNSL2	55258	broad.mit.edu	37	chr2	88482594	88482594	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaactgcacagcaaggTcagtcactacccacacacca	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)						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)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.e6+2		threonine synthase-like 2 (S. cerevisiae)							76	69	71					2																	88482594		2203	4300	6503	SO:0001630	splice_region_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88482594T>G		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.1077+2T>G	2.37:g.88482594T>G						THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Splice_Site		NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			6	2768	+								B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Splice_Site	SNP	ENST00000324166.5	37		CCDS2002.2	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319031	0.41096	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2669	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THNSL2	88263709	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	6.965000	0.76067	2.210000	0.71456	0.459000	0.35465	.		0.527	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271	Intron	43	166	0	0	0	1	0	43	166					G	88482594	T	G	88482594	5	3	79	1	0	0	0	0	0	0	1	0	15915	1681	58	4	1101	4	THNSL2	2	88482594	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8261	88482594	154716779	2636	12953											
THNSL2	55258	broad.mit.edu	37	chr2	88485522	88485522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagatcgtagccctggaGcacaaggagacacgctgcac	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000324166.5	+	8	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000449349.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	445					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)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1333-1335)gaG>gaA		threonine synthase-like 2 (S. cerevisiae)							47	53	51					2																	88485522		2195	4283	6478	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88485522G>A		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.1335G>A	2.37:g.88485522G>A						THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR	p.E445E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			8	3026	+			445					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.1335G>A	CCDS2002.2																																																																																				0.632	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		24	67	0	0	0	1	0	24	67					A	88485522	G	A	88485522	2	1	79	1	0	0	0	0	0	0	0	1	15915	962	34	2		2	THNSL2	2	88485522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2928	88485522	154713851	2637	12954											
C2orf51	200523	broad.mit.edu	37	chr2	88828668	88828668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtaccctgctttcaaaagAccccacatgactgccaaaga	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88828668A>G	ENST00000303254.3	+	4	361	c.219A>G	c.(217-219)agA>agG	p.R73R		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	73						nucleus (GO:0005634)											CTTTCAAAAGACCCCACATGA	0.567																																						ENST00000303254.3																			0											c.(217-219)agA>agG		testis expressed 37							113	107	109					2																	88828668		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88828668A>G	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.219A>G	2.37:g.88828668A>G							p.R73R	NM_152670.2	NP_689883.1					4	361	+									Silent	SNP	ENST00000303254.3	37	c.219A>G	CCDS2003.1																																																																																				0.567	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		87	442	0	0	0	1	0	87	442					G	88828668	A	G	88828668	2	3	79	1	0	0	0	0	0	0	0	1	2180	272	10	4		4	C2orf51	2	88828668	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	343146	88828668	154370705	2638	12955											
EIF2AK3	9451	broad.mit.edu	37	chr2	88857381	88857381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccaagtcctcaaatacaGcattttcaatgatgtttata	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88857381G>T	ENST00000303236.3	-	17	3525	c.3224C>A	c.(3223-3225)gCt>gAt	p.A1075D	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1075	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CTCAAATACAGCATTTTCAAT	0.413																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(3223-3225)gCt>gAt		eukaryotic translation initiation factor 2-alpha kinase 3							197	190	193					2																	88857381		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88857381G>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3224C>A	2.37:g.88857381G>T	ENSP00000307235:p.Ala1075Asp					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	p.A1075D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			17	3525	-			1075			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.3224C>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505624	0.64410	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73897	2.11;2.11;-0.79	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251518	0.39909	N	0.001238	T	0.57902	0.2085	N	0.08118	0	0.45791	D	0.998673	B	0.15930	0.015	B	0.12156	0.007	T	0.53143	-0.8480	10	0.15952	T	0.53	-9.8721	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1075	Q9NZJ5	E2AK3_HUMAN	D	924;1075;924;954	ENSP00000408325:A924D;ENSP00000307235:A1075D;ENSP00000412076:A954D	ENSP00000307235:A1075D	A	-	2	0	EIF2AK3	88638496	1.000000	0.71417	0.185000	0.23176	0.697000	0.40408	7.825000	0.86693	2.824000	0.97209	0.655000	0.94253	GCT		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		19	759	1	0	6.49762e-13	1	6.99513e-13	19	759					T	88857381	G	T	88857381	3	4	79	1	0	0	0	0	1	0	0	0	5014	971	34	3	130	3	EIF2AK3	2	88857381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28713	88857381	154341992	2639	12956											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacctttggtgaactgggCtggagtttttctgtggtgtt	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GTGAACTGGGCTGGAGTTTTT	0.408																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2626-2628)caG>caT		eukaryotic translation initiation factor 2-alpha kinase 3							176	173	174					2																	88874373		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874373C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2628G>T	2.37:g.88874373C>A	ENSP00000307235:p.Gln876His					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	p.Q876H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2929	-			876			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2628G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443500	0.43429	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74842	-0.76;-0.7;-0.88	5.56	4.68	0.58851	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.446433	0.24662	N	0.036625	T	0.44871	0.1314	N	0.01576	-0.805	0.41466	D	0.988071	B	0.11235	0.004	B	0.09377	0.004	T	0.37663	-0.9696	10	0.13853	T	0.58	-10.8257	11.0365	0.47804	0.1293:0.8023:0.0:0.0684	.	876	Q9NZJ5	E2AK3_HUMAN	H	725;876;725;755	ENSP00000408325:Q725H;ENSP00000307235:Q876H;ENSP00000412076:Q755H	ENSP00000307235:Q876H	Q	-	3	2	EIF2AK3	88655488	0.967000	0.33354	1.000000	0.80357	0.994000	0.84299	0.032000	0.13732	1.344000	0.45657	0.655000	0.94253	CAG		0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		24	894	1	0	1.64293e-13	1	1.77503e-13	24	894					A	88874373	C	A	88874373	3	1	79	1	0	0	0	0	1	0	0	0	5014	796	28	3	742	3	EIF2AK3	2	88874373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16992	88874373	154325000	2640	12957											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttgtggtgaaggagCtatgatttcaatatgttctt	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	713	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2137-2139)Gct>Tct		eukaryotic translation initiation factor 2-alpha kinase 3							160	164	163					2																	88874864		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874864C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2137G>T	2.37:g.88874864C>A	ENSP00000307235:p.Ala713Ser					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	p.A713S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2438	-			713			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2137G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685924	0.47991	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73469	-0.63;-0.57;-0.75	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159141	0.56097	D	0.000022	T	0.59376	0.2189	L	0.28740	0.885	0.47737	D	0.999505	B	0.18741	0.03	B	0.15484	0.013	T	0.53387	-0.8446	10	0.10902	T	0.67	-23.204	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	713	Q9NZJ5	E2AK3_HUMAN	S	562;713;562;592	ENSP00000408325:A562S;ENSP00000307235:A713S;ENSP00000412076:A592S	ENSP00000307235:A713S	A	-	1	0	EIF2AK3	88655979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.882000	0.98803	0.655000	0.94253	GCT		0.448	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		263	750	1	0	1.09717e-106	1	1.41195e-106	263	750					A	88874864	C	A	88874864	3	1	79	1	0	0	0	0	1	0	0	0	5014	797	28	3	1233	3	EIF2AK3	2	88874864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	491	88874864	154324509	2641	12958											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtactcccattccagatgtCctcccttcttactgaatgcc	6	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(979-981)gGa>gAa		eukaryotic translation initiation factor 2-alpha kinase 3							164	151	155					2																	88890358		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890358C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.980G>A	2.37:g.88890358C>T	ENSP00000307235:p.Gly327Glu					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	p.G327E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			5	1281	-			327					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.980G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972414	0.34848	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.049969	0.85682	D	0.000000	T	0.79793	0.4507	L	0.56396	1.775	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.74922	-0.3499	10	0.31617	T	0.26	-28.1707	20.2147	0.98293	0.0:1.0:0.0:0.0	.	327	Q9NZJ5	E2AK3_HUMAN	E	176;327;176;206	ENSP00000408325:G176E;ENSP00000307235:G327E;ENSP00000412076:G206E	ENSP00000307235:G327E	G	-	2	0	EIF2AK3	88671473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	2.785000	0.95823	0.591000	0.81541	GGA		0.433	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		41	524	0	0	0	1	0	41	524					T	88890358	C	T	88890358	3	4	79	1	0	0	0	0	1	0	0	0	5014	855	30	2	2422	2	EIF2AK3	2	88890358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	88890358	154309015	2642	12959											
TEKT4	150483	broad.mit.edu	37	chr2	95537600	95537600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccacgcgcacagtgggCgagcgactgcaggacacgca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	92					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(274-276)ggC>ggT		tektin 4							15	14	14					2																	95537600		2189	4285	6474	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537600C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.276C>T	2.37:g.95537600C>T						AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	413	+			92						Silent	SNP	ENST00000295201.4	37	c.276C>T	CCDS2005.1																																																																																				0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		47	84	0	0	0	1	0	47	84					T	95537600	C	T	95537600	2	4	79	1	0	0	0	0	0	0	0	1	15807	755	27	1		1	TEKT4	2	95537600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6647242	95537600	147661773	2643	12960											
TEKT4	150483	broad.mit.edu	37	chr2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaacggctggagcgcgccCtggacgccacagaggtgccc	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	130					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(388-390)Ctg>Atg		tektin 4							17	15	16					2																	95537712		2190	4283	6473	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537712C>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.388C>A	2.37:g.95537712C>A	ENSP00000295201:p.Leu130Met					AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	525	+			130						Missense_Mutation	SNP	ENST00000295201.4	37	c.388C>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077103	0.36662	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.04406	3.63;3.63	1.84	1.84	0.25277	.	0.000000	0.64402	D	0.000002	T	0.17577	0.0422	M	0.85462	2.755	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.00638	-1.1632	10	0.56958	D	0.05	-0.3095	4.3788	0.11284	0.0:0.7866:0.0:0.2134	.	130	Q8WW24	TEKT4_HUMAN	M	130	ENSP00000295201:L130M;ENSP00000407596:L130M	ENSP00000295201:L130M	L	+	1	2	TEKT4	94901439	0.968000	0.33430	0.996000	0.52242	0.156000	0.22039	1.976000	0.40579	1.015000	0.39444	0.456000	0.33151	CTG		0.657	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		16	70	1	0	1.15088e-07	1	1.19614e-07	16	70					A	95537712	C	A	95537712	3	1	79	1	0	0	0	0	1	0	0	0	15807	680	24	3	390	3	TEKT4	2	95537712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	95537712	147661661	2644	12961											
MAL	4118	broad.mit.edu	37	chr2	95715347	95715347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagcctaccactgcaccGctgccctcttttacctcagc	6	19	2	0	rs11553832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95715347G>A	ENST00000309988.4	+	3	392	c.283G>A	c.(283-285)Gct>Act	p.A95T	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	95	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACTGCACCGCTGCCCTCTT	0.622																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(283-285)Gct>Act		mal, T-cell differentiation protein							141	126	131					2																	95715347		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715347G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.283G>A	2.37:g.95715347G>A	ENSP00000310880:p.Ala95Thr					MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	p.A95T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	392	+			95			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.283G>A	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478948	0.44044	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	T	0.27557	1.66	5.59	4.7	0.59300	Marvel (1);MARVEL-like domain (1);	0.252264	0.45606	D	0.000360	T	0.29126	0.0724	L	0.49126	1.545	0.80722	D	1	P;P	0.49783	0.487;0.928	B;B	0.42343	0.137;0.384	T	0.05225	-1.0898	10	0.51188	T	0.08	.	10.7323	0.46104	0.089:0.0:0.911:0.0	.	39;95	P21145-3;P21145	.;MAL_HUMAN	T	95;39	ENSP00000310880:A95T	ENSP00000310880:A95T	A	+	1	0	MAL	95079074	1.000000	0.71417	0.367000	0.25926	0.249000	0.25844	6.214000	0.72200	1.347000	0.45714	0.561000	0.74099	GCT		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		15	833	0	0	0	1	0	15	833					A	95715347	G	A	95715347	3	1	79	1	0	0	0	0	1	0	0	0	9240	1087	38	1	293	1	MAL	2	95715347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177635	95715347	147484026	2645	12962											
MRPS5	64969	broad.mit.edu	37	chr2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-													ttagttcttttgcctcttccTttttttgctccagcaccagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aaafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)aafs		mitochondrial ribosomal protein S5							100	103	102					2																	95775728		2203	4300	6503	SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775728delT	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.336delA	2.37:g.95775728delT	ENSP00000272418:p.Lys112fs						p.K112fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544	-			112					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	c.336delA	CCDS2010.1																																																																																				0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		9	787						9	787	---	---	---	---	-	95775728	T	-	95775728	7	5	79	1	0	1	0	1	0	0	0	0	9887	1606	56	0	992	0	MRPS5	2	95775728	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	60381	95775728	147423645	2646	12963											
ZNF514	84874	broad.mit.edu	37	chr2	95818951	95818951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagcagggttcagctgCccccactcccactggctgaa	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(46-48)ggG>ggA		zinc finger protein 514							81	77	78					2																	95818951		2203	4300	6503	SO:0001819	synonymous_variant	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818951C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.48G>A	2.37:g.95818951C>T						ZNF514_ENST00000411425.1_Silent_p.G16G	p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			3	510	-			16			KRAB.		Q5JPJ3	Silent	SNP	ENST00000295208.2	37	c.48G>A	CCDS2011.1																																																																																				0.517	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		41	393	0	0	0	1	0	41	393					T	95818951	C	T	95818951	2	4	79	1	0	0	0	0	0	0	0	1	18012	726	26	2		2	ZNF514	2	95818951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43223	95818951	147380422	2647	12964											
ZNF2	7549	broad.mit.edu	37	chr2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgttcatcccttactcgaCaccagagaattcacactgga	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000340539.5	+	5	1288	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(700-702)Cac>Tac		zinc finger protein 2							85	94	91					2																	95847399		2185	4294	6479	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847399C>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.826C>T	2.37:g.95847399C>T	ENSP00000345392:p.His276Tyr					ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H276Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y	p.H234Y	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	1222	+		Ovarian(717;0.00768)	275					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.700C>T	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562794	0.86335	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000076	D	0.95799	0.8633	H	0.96777	3.88	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.96945	0.9690	10	0.87932	D	0	-22.5568	16.1933	0.82006	0.0:1.0:0.0:0.0	.	238;234;275	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	234;276;196;238;289	ENSP00000381178:H234Y;ENSP00000345392:H276Y;ENSP00000406017:H196Y;ENSP00000295210:H238Y;ENSP00000411051:H289Y	ENSP00000295210:H238Y	H	+	1	0	ZNF2	95211126	1.000000	0.71417	0.945000	0.38365	0.978000	0.69477	5.881000	0.69706	2.696000	0.92011	0.655000	0.94253	CAC		0.453	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		92	471	0	0	0	1	0	92	471					T	95847399	C	T	95847399	3	4	79	1	0	0	0	0	1	0	0	0	17813	478	17	2	840	2	ZNF2	2	95847399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28448	95847399	147351974	2648	12965											
PROM2	150696	broad.mit.edu	37	chr2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggctacgtggtatgcGctgtgatcgcgggcctctac	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(328-330)Gct>Act		prominin 2							23	34	30					2																	95941711		2202	4298	6500	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95941711G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.328G>A	2.37:g.95941711G>A	ENSP00000318270:p.Ala110Thr					PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T	p.A110T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			3	461	+			110					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.328G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633838	0.47049	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.77	3.82	0.43975	.	0.000000	0.64402	D	0.000013	T	0.64091	0.2567	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.25106	T	0.35	-9.3479	10.0963	0.42478	0.0:0.2043:0.7957:0.0	.	110	Q8N271	PROM2_HUMAN	T	110	ENSP00000385716:A110T;ENSP00000318520:A110T;ENSP00000318270:A110T;ENSP00000442542:A110T	ENSP00000318270:A110T	A	+	1	0	PROM2	95305438	0.154000	0.22792	0.447000	0.26932	0.008000	0.06430	2.125000	0.42016	2.176000	0.68965	0.462000	0.41574	GCT		0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		39	115	0	0	0	1	0	39	115					A	95941711	G	A	95941711	3	1	79	1	0	0	0	0	1	0	0	0	12603	1087	38	1	338	1	PROM2	2	95941711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94312	95941711	147257662	2649	12966											
PROM2	150696	broad.mit.edu	37	chr2	95945719	95945719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacccagaagccaagggCgaggctggagcccgcttcct	13	15	0	1	rs140258551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	467					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.G467G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18303	0.0		0.0	False		,,,				2504	0.001					ENST00000317620.9																			1	Substitution - coding silent(1)	p.G467G(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1399-1401)ggC>ggT		prominin 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	56	48	51		1401,1401,1401	3.5	1	2	dbSNP_134	51	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,,	467/835,467/835,467/835	95945719	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95945719C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1401C>T	2.37:g.95945719C>T						PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G	p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			11	1534	+			467					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1401C>T	CCDS2012.1																																																																																				0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		61	238	0	0	0	1	0	61	238					T	95945719	C	T	95945719	2	4	79	1	0	0	0	0	0	0	0	1	12603	755	27	1		1	PROM2	2	95945719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	95945719	147253654	2650	12967											
PROM2	150696	broad.mit.edu	37	chr2	95952933	95952933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgaaaggagagctgcCtgcctgggcagccaggatcc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95952933C>A	ENST00000317620.9	+	19	2280	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	716					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCTGCCTGCCTGGGCA	0.597																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2146-2148)cCt>cAt		prominin 2							57	55	56					2																	95952933		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95952933C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2147C>A	2.37:g.95952933C>A	ENSP00000318270:p.Pro716His					PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			19	2280	+			716					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.2147C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449748	0.63290	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.98	4.1	0.47936	.	0.173678	0.40908	D	0.000983	T	0.60196	0.2250	M	0.76574	2.34	0.38292	D	0.942739	D	0.89917	1.0	D	0.87578	0.998	T	0.64002	-0.6509	10	0.45353	T	0.12	-7.114	9.033	0.36271	0.0:0.9003:0.0:0.0997	.	716	Q8N271	PROM2_HUMAN	H	716;716;716;667	ENSP00000385716:P716H;ENSP00000318520:P716H;ENSP00000318270:P716H;ENSP00000442542:P667H	ENSP00000318270:P716H	P	+	2	0	PROM2	95316660	0.756000	0.28383	0.844000	0.33320	0.988000	0.76386	1.608000	0.36847	1.313000	0.45069	0.561000	0.74099	CCT		0.597	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		7	196	1	0	0.00198382	1	0.00200138	7	196					A	95952933	C	A	95952933	3	1	79	1	0	0	0	0	1	0	0	0	12603	681	24	3	2221	3	PROM2	2	95952933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7214	95952933	147246440	2651	12968											
KCNIP3	30818	broad.mit.edu	37	chr2	96012774	96012774	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcttgccatgggcAtccagggcatggagctgtgc	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96012774A>G	ENST00000295225.5	+	3	316				KCNIP3_ENST00000468529.1_Missense_Mutation_p.I3V|KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin						apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCCATGGGCATCCAGGGCAT	0.711																																						ENST00000468529.1																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(7-9)Atc>Gtc		Kv channel interacting protein 3, calsenilin							64	52	56					2																	96012774		2203	4300	6503	SO:0001627	intron_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96012774A>G	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.182-27270A>G	2.37:g.96012774A>G						KCNIP3_ENST00000377181.2_Intron|KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000360990.3_Intron	p.I3V	NM_001034914.1	NP_001030086.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	1	299	+			0					H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.7A>G	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	a	13.45	2.241350	0.39598	.	.	ENSG00000115041	ENST00000468529	T	0.69926	-0.44	3.04	3.04	0.35103	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.56733	-0.7930	8	0.59425	D	0.04	.	9.4384	0.38653	1.0:0.0:0.0:0.0	.	3	Q9Y2W7-3	.	V	3	ENSP00000417499:I3V	ENSP00000417499:I3V	I	+	1	0	KCNIP3	95376501	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.265000	0.58865	1.366000	0.46076	0.241000	0.17934	ATC		0.711	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		10	70	0	0	0	1	0	10	70					G	96012774	A	G	96012774	1	3	79	0	1	0	0	0	0	0	0	0	8071	217	8	4		4	KCNIP3	2	96012774	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59841	96012774	147186599	2652	12969											
KCNIP3	30818	broad.mit.edu	37	chr2	96040138	96040138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagttcaccaagaaggaGctgcagtctctctacagggg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602																																						ENST00000295225.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gaG>gaA		Kv channel interacting protein 3, calsenilin							87	85	85					2																	96040138		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96040138G>A	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.276G>A	2.37:g.96040138G>A						KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E	p.E92E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	3	411	+			92			EF-hand 1; degenerate.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.276G>A	CCDS2013.1																																																																																				0.602	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		61	240	0	0	0	1	0	61	240					A	96040138	G	A	96040138	2	1	79	1	0	0	0	0	0	0	0	1	8071	962	34	2		2	KCNIP3	2	96040138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	96040138	147159235	2653	12970											
GPAT2	150763	broad.mit.edu	37	chr2	96688928	96688928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgggctgagcaggCggcagaggaaaagaaagaaa	17	6	0	5	rs551982593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	ENST00000434632.1	-	20	2534	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	692					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCTGAGCAGGCGGCAGAGGAA	0.652													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0					ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2074-2076)cGc>cAc		glycerol-3-phosphate acyltransferase 2, mitochondrial							13	17	16					2																	96688928		1817	4047	5864	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688928C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2075G>A	2.37:g.96688928C>T	ENSP00000389395:p.Arg692His					GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H	p.R692H			Q6NUI2	GPAT2_HUMAN			20	2534	-			692					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2075G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.411002	0.62399	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.80123	-1.34;-1.34;-0.36	5.44	5.44	0.79542	.	0.381151	0.27411	N	0.019488	D	0.87807	0.6270	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;0.965;0.953;0.999	D;B;B;D	0.70716	0.97;0.374;0.267;0.957	D	0.87059	0.2152	10	0.44086	T	0.13	-11.9956	16.7485	0.85479	0.0:1.0:0.0:0.0	.	621;698;692;621	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	H	692;692;621	ENSP00000352547:R692H;ENSP00000389395:R692H;ENSP00000393770:R621H	ENSP00000352547:R692H	R	-	2	0	GPAT2	96052655	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.011000	0.49567	2.569000	0.86673	0.637000	0.83480	CGC		0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	91	0	0	0	1	0	6	91					T	96688928	C	T	96688928	3	4	79	1	0	0	0	0	1	0	0	0	6618	768	27	1	328	1	GPAT2	2	96688928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	648790	96688928	146510445	2654	12971											
GPAT2	150763	broad.mit.edu	37	chr2	96688941	96688941	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcaggcggcagaggaaaaGaaagaaatctgggcagtgtg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688941G>A	ENST00000434632.1	-	20	2521	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	688					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGAGGAAAAGAAAGAAATCT	0.662																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2062-2064)Ctt>Ttt		glycerol-3-phosphate acyltransferase 2, mitochondrial							16	18	18					2																	96688941		1838	4076	5914	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688941G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2062C>T	2.37:g.96688941G>A	ENSP00000389395:p.Leu688Phe					GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F	p.L688F			Q6NUI2	GPAT2_HUMAN			20	2521	-			688					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2062C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	15.40	2.822033	0.50739	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.77229	-1.08;-1.08;-0.07	5.44	4.54	0.55810	.	0.218476	0.39544	N	0.001334	T	0.79811	0.4510	L	0.38531	1.155	0.80722	D	1	D;B;D;D	0.71674	0.998;0.155;0.959;0.995	D;B;P;D	0.66351	0.943;0.038;0.734;0.919	T	0.79729	-0.1681	10	0.56958	D	0.05	-24.6156	9.0082	0.36124	0.0:0.1622:0.6697:0.168	.	617;694;688;617	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	F	688;688;617	ENSP00000352547:L688F;ENSP00000389395:L688F;ENSP00000393770:L617F	ENSP00000352547:L688F	L	-	1	0	GPAT2	96052668	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.859000	0.39418	1.267000	0.44247	0.637000	0.83480	CTT		0.662	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	86	0	0	0	1	0	6	86					A	96688941	G	A	96688941	3	1	79	1	0	0	0	0	1	0	0	0	6618	942	33	2	341	2	GPAT2	2	96688941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	96688941	146510432	2655	12972											
GPAT2	150763	broad.mit.edu	37	chr2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatgggctgcagtagctgCtccagggtctgtctgccgcc	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	402					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1204-1206)gaG>gaT		glycerol-3-phosphate acyltransferase 2, mitochondrial							33	33	33					2																	96691710		1977	4159	6136	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691710C>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1206G>T	2.37:g.96691710C>A	ENSP00000389395:p.Glu402Asp					GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D	p.E402D			Q6NUI2	GPAT2_HUMAN			13	1665	-			402					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1206G>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.293477	0.60086	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.80214	-1.35;-1.35;-0.39;-1.34	4.7	1.81	0.25067	.	0.065530	0.64402	D	0.000008	D	0.83156	0.5193	M	0.65498	2.005	0.29525	N	0.853173	D;D;D;D;P	0.69078	0.971;0.997;0.991;0.997;0.565	P;P;P;P;P	0.61201	0.79;0.885;0.798;0.885;0.569	T	0.75803	-0.3189	10	0.40728	T	0.16	-15.498	5.8985	0.18953	0.0:0.6541:0.0:0.3459	.	331;402;402;402;331	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	402;402;331;402	ENSP00000352547:E402D;ENSP00000389395:E402D;ENSP00000393770:E331D;ENSP00000366341:E402D	ENSP00000352547:E402D	E	-	3	2	GPAT2	96055437	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.403000	0.34612	0.383000	0.24910	0.557000	0.71058	GAG		0.617	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		57	228	1	0	1.88225e-35	1	2.24767e-35	57	228					A	96691710	C	A	96691710	3	1	79	1	0	0	0	0	1	0	0	0	6618	796	28	3	1225	3	GPAT2	2	96691710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	96691710	146507663	2656	12973											
ADRA2B	151	broad.mit.edu	37	chr2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacctcgcaccacgtgcGccggaagtaccagtagccca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	82					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACCACGTGCGCCGGAAGTAC	0.657																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(244-246)Cgc>Tgc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						46	50	49					2																	96781645		2202	4300	6502	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781645G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.244C>T	2.37:g.96781645G>A	ENSP00000387281:p.Arg82Cys						p.R82C	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	339	-			82					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.244C>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889619	0.52014	.	.	ENSG00000222040	ENST00000409345	T	0.73469	-0.75	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84835	0.5560	M	0.92691	3.335	0.32577	N	0.52904	D	0.67145	0.996	P	0.58970	0.849	D	0.86428	0.1759	9	0.72032	D	0.01	.	5.7559	0.18172	0.0986:0.0:0.7108:0.1905	.	82	P18089	ADA2B_HUMAN	C	82	ENSP00000387281:R82C	ENSP00000387281:R82C	R	-	1	0	ADRA2B	96145372	0.001000	0.12720	0.991000	0.47740	0.742000	0.42306	1.279000	0.33191	1.133000	0.42147	-0.365000	0.07479	CGC		0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			42	123	0	0	0	1	0	42	123					A	96781645	G	A	96781645	3	1	79	1	0	0	0	0	1	0	0	0	338	1087	38	1	1103	1	ADRA2B	2	96781645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89935	96781645	146417728	2657	12974											
ADRA2B	151	broad.mit.edu	37	chr2	96781656	96781656	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgtgcgccggaagtacCagtagcccagcagctcgttg	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781656C>T	ENST00000409345.3	-	1	328	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	78					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGGAAGTACCAGTAGCCCAG	0.652																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(232-234)tGg>tAg		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						47	52	50					2																	96781656		2202	4300	6502	SO:0001587	stop_gained	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781656C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.233G>A	2.37:g.96781656C>T	ENSP00000387281:p.Trp78*						p.W78*	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	328	-			78					Q4TUH9|Q53RF2|Q9BZK0	Nonsense_Mutation	SNP	ENST00000409345.3	37	c.233G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000222040	ENST00000409345	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000387281:W78X	W	-	2	0	ADRA2B	96145383	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.337000	0.79520	0.456000	0.33151	TGG		0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			5	166	0	0	0	1	0	5	166					T	96781656	C	T	96781656	4	4	79	1	0	0	0	0	0	1	0	0	338	595	21	2	1114	2	ADRA2B	2	96781656	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	96781656	146417717	2658	12975											
ADRA2B	151	broad.mit.edu	37	chr2	96781849	96781849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatggccgccgctatggCcgctgtggcctgcacggagt	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781849C>T	ENST00000409345.3	-	1	135	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	14					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCGCTATGGCCGCTGTGGCC	0.672																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(40-42)Gcc>Acc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17	23	21					2																	96781849		2096	4209	6305	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781849C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.40G>A	2.37:g.96781849C>T	ENSP00000387281:p.Ala14Thr						p.A14T	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	135	-			14					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.40G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696581	0.48202	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.28	4.28	0.50868	.	.	.	.	.	T	0.41534	0.1163	L	0.48986	1.54	0.48762	D	0.999704	P	0.52842	0.956	P	0.50825	0.651	T	0.14896	-1.0456	9	0.25751	T	0.34	.	14.3119	0.66422	0.0:1.0:0.0:0.0	.	14	P18089	ADA2B_HUMAN	T	14	ENSP00000387281:A14T	ENSP00000387281:A14T	A	-	1	0	ADRA2B	96145576	0.939000	0.31865	0.966000	0.40874	0.374000	0.29953	2.044000	0.41241	2.213000	0.71641	0.456000	0.33151	GCC		0.672	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			4	101	0	0	0	1	0	4	101					T	96781849	C	T	96781849	3	4	79	1	0	0	0	0	1	0	0	0	338	739	26	2	1307	2	ADRA2B	2	96781849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	96781849	146417524	2659	12976											
CIAO1	55654	broad.mit.edu	37	chr2	96932184	96932184	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggggaccctgctggcCtcgtgcggcggcgaccggag	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96932184C>A	ENST00000258439.3	-	0	0				CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Silent_p.A32A|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						CCCTGCTGGCCTCGTGCGGCG	0.721																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(94-96)gcC>gcA		cytosolic iron-sulfur protein assembly 1							11	15	14					2																	96932184		2186	4286	6472	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96932184C>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96932184C>A	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.A32A	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			1	315	+			32					D3DXH0	Silent	SNP	ENST00000258439.3	37	c.96C>A	CCDS2018.1																																																																																				0.721	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		12	76	1	0	0.00010058	1	0.000102273	12	76					A	96932184	C	A	96932184	1	1	79	0	1	0	0	0	0	0	0	0	3427	668	24	3		3	CIAO1	2	96932184	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150335	96932184	146267189	2660	12977											
SNRNP200	23020	broad.mit.edu	37	chr2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtaggcggcgatcatgcCtaggttcagaggcgccacgt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1816	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCGATCATGCCTAGGTTCAGA	0.582																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(5446-5448)Ggc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							109	99	102					2																	96944327		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96944327C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5446G>T	2.37:g.96944327C>A	ENSP00000317123:p.Gly1816Cys					SNRNP200_ENST00000349783.5_Intron	p.G1816C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			38	5523	-			1816			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.5446G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079152	0.76528	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.84589	-1.87	5.62	5.62	0.85841	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.88704	2.975	0.80722	D	1	P	0.45768	0.866	P	0.54924	0.764	D	0.92921	0.6355	10	0.62326	D	0.03	-16.916	18.7951	0.91991	0.0:1.0:0.0:0.0	.	1816	O75643	U520_HUMAN	C	1816;275;399	ENSP00000317123:G1816C	ENSP00000317123:G1816C	G	-	1	0	SNRNP200	96308054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.804000	0.96469	0.655000	0.94253	GGC		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		44	458	1	0	5.48756e-27	1	6.34209e-27	44	458					A	96944327	C	A	96944327	3	1	79	1	0	0	0	0	1	0	0	0	14902	681	24	3	996	3	SNRNP200	2	96944327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12143	96944327	146255046	2661	12978											
SNRNP200	23020	broad.mit.edu	37	chr2	96953626	96953626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcgatcatcttgcagaGgttcagggtcttgtctgtaa	11	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96953626G>T	ENST00000323853.5	-	25	3417	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1114	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCTTGCAGAGGTTCAGGGTC	0.537																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(3340-3342)Ctc>Atc		small nuclear ribonucleoprotein 200kDa (U5)							180	157	165					2																	96953626		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96953626G>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3340C>A	2.37:g.96953626G>T	ENSP00000317123:p.Leu1114Ile					SNRNP200_ENST00000349783.5_Intron	p.L1114I	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			25	3417	-			1114			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3340C>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131324	0.77549	.	.	ENSG00000144028	ENST00000323853	T	0.71103	-0.54	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.68728	2.09	0.80722	D	1	B	0.31485	0.325	P	0.44696	0.458	T	0.77877	-0.2424	10	0.54805	T	0.06	-17.238	17.8872	0.88861	0.0:0.0:1.0:0.0	.	1114	O75643	U520_HUMAN	I	1114	ENSP00000317123:L1114I	ENSP00000317123:L1114I	L	-	1	0	SNRNP200	96317353	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.550000	0.98110	2.755000	0.94549	0.561000	0.74099	CTC		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	527	1	0	0.000673444	1	0.000681208	11	527					T	96953626	G	T	96953626	3	4	79	1	0	0	0	0	1	0	0	0	14902	1000	35	3	3154	3	SNRNP200	2	96953626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9299	96953626	146245747	2662	12979											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992435	96992435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggcagtgatgtatgtTgttcaccaccctctgatggt	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000439118.2	+	3	317	c.66T>C	c.(64-66)gtT>gtC	p.V22V	ITPRIPL1_ENST00000361124.4_Silent_p.V30V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	22						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATGTATGTTGTTCACCACC	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(88-90)gtT>gtC		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							159	133	142					2																	96992435		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96992435T>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.66T>C	2.37:g.96992435T>C						ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000439118.2_Silent_p.V22V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	p.V30V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	501	+			22					F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.90T>C	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484444	0.12641	.	.	ENSG00000198885	ENST00000420728	.	.	.	4.89	-4.61	0.03380	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-6.2416	9.4413	0.38670	0.0:0.1531:0.6099:0.237	.	.	.	.	S	54	.	.	L	+	2	0	ITPRIPL1	96356162	0.000000	0.05858	0.896000	0.35187	0.999000	0.98932	-4.207000	0.00274	-1.018000	0.03363	0.533000	0.62120	TTG		0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		94	417	0	0	0	1	0	94	417					C	96992435	T	C	96992435	2	2	79	1	0	0	0	0	0	0	0	1	7954	1799	63	4		4	ITPRIPL1	2	96992435	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38809	96992435	146206938	2663	12980											
NCAPH	23397	broad.mit.edu	37	chr2	97007618	97007618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcacctcgcttattggcCtccccctccagcaggtgagg	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000240423.4	+	2	301	c.258C>T	c.(256-258)gcC>gcT	p.A86A	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Silent_p.A75A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	86					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(223-225)gcC>gcT		non-SMC condensin I complex, subunit H							72	74	73					2																	97007618		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007618C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.258C>T	2.37:g.97007618C>T						NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Silent_p.A86A	p.A75A			Q15003	CND2_HUMAN			2	520	+		Ovarian(717;0.0221)	86					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.225C>T	CCDS2021.1																																																																																				0.572	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		97	494	0	0	0	1	0	97	494					T	97007618	C	T	97007618	2	4	79	1	0	0	0	0	0	0	0	1	10251	668	24	2		2	NCAPH	2	97007618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15183	97007618	146191755	2664	12981											
NCAPH	23397	broad.mit.edu	37	chr2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggctgtaaagccaaAgaagaagcacttacacagaa	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000240423.4	+	6	687	c.644A>C	c.(643-645)aAg>aCg	p.K215T	NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000455200.1_Missense_Mutation_p.K204T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	215					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(610-612)aAg>aCg		non-SMC condensin I complex, subunit H							115	103	107					2																	97009891		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97009891A>C	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.644A>C	2.37:g.97009891A>C	ENSP00000240423:p.Lys215Thr					NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000240423.4_Missense_Mutation_p.K215T	p.K204T			Q15003	CND2_HUMAN			6	906	+		Ovarian(717;0.0221)	215					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.611A>C	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304597	0.60305	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.43	4.29	0.51040	.	0.151158	0.64402	D	0.000018	T	0.71151	0.3306	M	0.75264	2.295	0.44547	D	0.997506	P;P;P;P	0.51653	0.89;0.89;0.947;0.89	P;P;P;P	0.56751	0.636;0.636;0.805;0.636	T	0.70263	-0.4920	10	0.41790	T	0.15	-18.9547	8.7826	0.34800	0.9065:0.0:0.0935:0.0	.	191;204;204;215	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	215;79;204;204	ENSP00000240423:K215T;ENSP00000400774:K79T;ENSP00000405237:K204T;ENSP00000407308:K204T	ENSP00000240423:K215T	K	+	2	0	NCAPH	96373618	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.687000	0.54692	1.034000	0.39945	0.524000	0.50904	AAG		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		62	254	0	0	0	1	0	62	254					C	97009891	A	C	97009891	3	2	79	1	0	0	0	0	1	0	0	0	10251	72	3	4	666	4	NCAPH	2	97009891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2273	97009891	146189482	2665	12982											
NCAPH	23397	broad.mit.edu	37	chr2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaattaataggctgctaCtattctgaccaagtccactt	5	9	1	1	rs372669126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000240423.4	+	12	1515	c.1472C>T	c.(1471-1473)aCt>aTt	p.T491I	NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I|NCAPH_ENST00000455200.1_Missense_Mutation_p.T480I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	491					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1438-1440)aCt>aTt		non-SMC condensin I complex, subunit H							120	122	122					2																	97026333		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97026333C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1472C>T	2.37:g.97026333C>T	ENSP00000240423:p.Thr491Ile					NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I|NCAPH_ENST00000240423.4_Missense_Mutation_p.T491I	p.T480I			Q15003	CND2_HUMAN			12	1734	+		Ovarian(717;0.0221)	491					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1439C>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434742	0.62955	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.3	4.42	0.53409	.	0.046684	0.85682	N	0.000000	T	0.59622	0.2207	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.987;0.989;0.973	T	0.57476	-0.7805	10	0.23891	T	0.37	-12.9561	12.2103	0.54375	0.0:0.9161:0.0:0.0839	.	467;480;491	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	I	491;355;480;480	ENSP00000240423:T491I;ENSP00000400774:T355I;ENSP00000405237:T480I;ENSP00000407308:T480I	ENSP00000240423:T491I	T	+	2	0	NCAPH	96390060	1.000000	0.71417	0.926000	0.36857	0.896000	0.52359	3.934000	0.56553	1.373000	0.46208	-0.150000	0.13652	ACT		0.403	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		194	596	0	0	0	1	0	194	596					T	97026333	C	T	97026333	3	4	79	1	0	0	0	0	1	0	0	0	10251	565	20	2	1518	2	NCAPH	2	97026333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16442	97026333	146173040	2666	12983											
KIAA1310	55683	broad.mit.edu	37	chr2	97268076	97268076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacttcacactggtggcCtgtgggacacacaagcccag	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97268076C>T	ENST00000431828.1	-	19	2336		c.e19-1		KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Splice_Site			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CACTGGTGGCCTGTGGGACAC	0.557																																						ENST00000599854.1																			0											c.e19-1		KAT8 regulatory NSL complex subunit 3							22	24	23					2																	97268076		2047	4194	6241	SO:0001630	splice_region_variant	55683							g.chr2:97268076C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2260-1G>A	2.37:g.97268076C>T						KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000431828.1_Splice_Site		NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			19	2466	-								A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37		CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849365	0.71603	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5727	0.76352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96631803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.928000	0.70088	2.738000	0.93877	0.655000	0.94253	.		0.557	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Intron	12	63	0	0	0	1	0	12	63					T	97268076	C	T	97268076	5	4	79	1	0	0	0	0	0	0	1	0	8252	695	24	2	389	2	KIAA1310	2	97268076	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241743	97268076	145931297	2667	12984											
KIAA1310	55683	broad.mit.edu	37	chr2	97276577	97276577	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaattctgaccaatgacaAagaggactggagtcttcata	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97276577A>C	ENST00000431828.1	-	11	1281	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	KANSL3_ENST00000440133.1_Missense_Mutation_p.F196C|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.F315C|KANSL3_ENST00000599854.1_Missense_Mutation_p.F315C			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	402					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACCAATGACAAAGAGGACTGG	0.473																																						ENST00000599854.1																			0											c.(943-945)tTt>tGt		KAT8 regulatory NSL complex subunit 3							160	154	156					2																	97276577		1901	4127	6028	SO:0001583	missense	55683							g.chr2:97276577A>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1205T>G	2.37:g.97276577A>C	ENSP00000396749:p.Phe402Cys					KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.F196C|KANSL3_ENST00000441706.2_Missense_Mutation_p.F315C|KANSL3_ENST00000431828.1_Missense_Mutation_p.F402C	p.F315C	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			11	1411	-			402					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.944T>G	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752617	0.89753	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.47177	0.85;0.85;0.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.983;0.998;0.98	T	0.67937	-0.5541	10	0.87932	D	0	.	14.5244	0.67878	1.0:0.0:0.0:0.0	.	196;402;315;290	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	C	315;290;402;315;196;196;315	ENSP00000396749:F402C;ENSP00000400678:F315C;ENSP00000406207:F196C	ENSP00000346144:F315C	F	-	2	0	KIAA1310	96640304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.136000	0.94489	2.313000	0.78055	0.455000	0.32223	TTT		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		196	623	0	0	0	1	0	196	623					C	97276577	A	C	97276577	3	2	79	1	0	0	0	0	1	0	0	0	8252	14	1	4	1475	4	KIAA1310	2	97276577	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8501	97276577	145922796	2668	12985											
CNNM4	26504	broad.mit.edu	37	chr2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccgggagaagctgatggaGatgttgaaggtgacggagcc	17	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	343	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1027-1029)gaG>gaT		cyclin M4							95	91	93					2																	97427765		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427765G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1029G>T	2.37:g.97427765G>T	ENSP00000366275:p.Glu343Asp						p.E343D	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1127	+			343			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1029G>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206442	0.58343	.	.	ENSG00000158158	ENST00000377075	D	0.88741	-2.42	5.03	3.25	0.37280	Domain of unknown function DUF21 (1);	0.183995	0.46758	D	0.000264	D	0.90954	0.7156	M	0.84511	2.7	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	D	0.88804	0.3287	10	0.59425	D	0.04	-18.7157	8.2718	0.31849	0.2505:0.0:0.7495:0.0	.	343	Q6P4Q7	CNNM4_HUMAN	D	343	ENSP00000366275:E343D	ENSP00000366275:E343D	E	+	3	2	CNNM4	96791492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.509000	0.53386	0.538000	0.28769	-0.749000	0.03505	GAG		0.498	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		98	320	1	0	4.98208e-43	1	6.07636e-43	98	320					T	97427765	G	T	97427765	3	4	79	1	0	0	0	0	1	0	0	0	3624	933	33	3	1031	3	CNNM4	2	97427765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151188	97427765	145771608	2669	12986											
CNNM4	26504	broad.mit.edu	37	chr2	97427930	97427930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacttcaacaccatgtcGgagataatggaaagcggcta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502																																						ENST00000377075.2																			1	Substitution - coding silent(1)	p.S398S(1)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1192-1194)tcG>tcA		cyclin M4							114	103	107					2																	97427930		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427930G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>A	2.37:g.97427930G>A							p.S398S	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1292	+			398			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.1194G>A	CCDS2024.2																																																																																				0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		86	396	0	0	0	1	0	86	396					A	97427930	G	A	97427930	2	1	79	1	0	0	0	0	0	0	0	1	3624	1103	39	1		1	CNNM4	2	97427930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	97427930	145771443	2670	12987											
CNNM4	26504	broad.mit.edu	37	chr2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccggtgttcgaagacgAgcagtccaatattgtagata	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	414	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1240-1242)gAg>gCg		cyclin M4							140	134	136					2																	97427977		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427977A>C	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1241A>C	2.37:g.97427977A>C	ENSP00000366275:p.Glu414Ala						p.E414A	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1339	+			414			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1241A>C	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193286	0.58017	.	.	ENSG00000158158	ENST00000377075	T	0.77489	-1.1	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.118012	0.56097	D	0.000032	D	0.87724	0.6249	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.89117	0.3500	10	0.62326	D	0.03	-6.8455	13.8067	0.63236	1.0:0.0:0.0:0.0	.	414	Q6P4Q7	CNNM4_HUMAN	A	414	ENSP00000366275:E414A	ENSP00000366275:E414A	E	+	2	0	CNNM4	96791704	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	9.281000	0.95811	1.909000	0.55274	0.533000	0.62120	GAG		0.507	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		155	534	0	0	0	1	0	155	534					C	97427977	A	C	97427977	3	2	79	1	0	0	0	0	1	0	0	0	3624	304	11	4	1243	4	CNNM4	2	97427977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	97427977	145771396	2671	12988											
CNNM3	26505	broad.mit.edu	37	chr2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctgttgaagcatcccAgtgtcaaccaggaagtgagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	529					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1585-1587)Agt>Ggt		cyclin M3							116	105	109					2																	97493533		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97493533A>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1585A>G	2.37:g.97493533A>G	ENSP00000305449:p.Ser529Gly					CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	p.S529G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			4	1613	+			529					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1585A>G	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717725	0.48622	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90844	-2.47;-2.74	5.93	5.93	0.95920	.	0.049764	0.85682	D	0.000000	D	0.82912	0.5140	N	0.25890	0.77	0.80722	D	1	B;B	0.22346	0.068;0.005	B;B	0.22386	0.039;0.01	T	0.77117	-0.2706	10	0.19590	T	0.45	-3.8148	9.8058	0.40792	0.9227:0.0:0.0773:0.0	.	481;529	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	G	481;481;529	ENSP00000366260:S481G;ENSP00000305449:S529G	ENSP00000305449:S529G	S	+	1	0	CNNM3	96857260	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.403000	0.66338	2.271000	0.75665	0.533000	0.62120	AGT		0.552	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		55	364	0	0	0	1	0	55	364					G	97493533	A	G	97493533	3	3	79	1	0	0	0	0	1	0	0	0	3623	188	7	4	1599	4	CNNM3	2	97493533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65556	97493533	145705840	2672	12989											
ANKRD23	200539	broad.mit.edu	37	chr2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctaccttgtcatgggCattggggtcccctccgtctg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	139					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(415-417)Gcc>Acc		ankyrin repeat domain 23							137	125	129					2																	97506535		2203	4300	6503	SO:0001583	missense	200539					nucleus		g.chr2:97506535C>T		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.415G>A	2.37:g.97506535C>T	ENSP00000321679:p.Ala139Thr					ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron	p.A139T	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			4	456	-			139					Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	37	c.415G>A	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078512	0.36662	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.66995	-0.24;-0.24	5.03	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.39274	N	0.001404	T	0.65375	0.2685	L	0.55743	1.74	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.60875	-0.7176	10	0.17832	T	0.49	-14.3014	9.5251	0.39160	0.0:0.9046:0.0:0.0954	.	139	Q86SG2	ANR23_HUMAN	T	139	ENSP00000321679:A139T;ENSP00000398987:A139T	ENSP00000321679:A139T	A	-	1	0	ANKRD23	96870262	0.302000	0.24454	0.965000	0.40720	0.881000	0.50899	0.725000	0.25970	1.361000	0.45981	-0.224000	0.12420	GCC		0.597	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		159	500	0	0	0	1	0	159	500					T	97506535	C	T	97506535	3	4	79	1	0	0	0	0	1	0	0	0	652	710	25	2	526	2	ANKRD23	2	97506535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13002	97506535	145692838	2673	12990											
SEMA4C	54910	broad.mit.edu	37	chr2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacaaccagggcctggaGccgggcatcgtagaggaagg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	609	Ig-like C2-type.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGCCTGGAGCCGGGCATCG	0.692																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1825-1827)Ctc>Atc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							17	22	21					2																	97527040		2199	4290	6489	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527040G>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1825C>A	2.37:g.97527040G>T	ENSP00000306844:p.Leu609Ile						p.L609I	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			15	1957	-			609			Ig-like C2-type.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1825C>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498736	0.44455	.	.	ENSG00000168758	ENST00000305476	T	0.04758	3.56	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150600	0.45606	D	0.000351	T	0.15998	0.0385	L	0.51422	1.61	0.58432	D	0.999996	B;P;D	0.69078	0.382;0.638;0.997	B;B;D	0.72625	0.133;0.212;0.978	T	0.01118	-1.1446	10	0.37606	T	0.19	.	16.5234	0.84322	0.0:0.0:1.0:0.0	.	609;319;150	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	I	609	ENSP00000306844:L609I	ENSP00000306844:L609I	L	-	1	0	SEMA4C	96890767	0.998000	0.40836	0.961000	0.40146	0.964000	0.63967	3.308000	0.51896	2.417000	0.82017	0.561000	0.74099	CTC		0.692	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		17	304	1	0	1.15088e-07	1	1.19614e-07	17	304					T	97527040	G	T	97527040	3	4	79	1	0	0	0	0	1	0	0	0	14083	971	34	3	680	3	SEMA4C	2	97527040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20505	97527040	145672333	2674	12991											
SEMA4C	54910	broad.mit.edu	37	chr2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcacgagcagggggcGgctccaccgaggccccacct	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	410	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617																																						ENST00000305476.5																			1	Substitution - Missense(1)	p.R410C(1)	prostate(1)	NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1228-1230)Cgc>Tgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							38	42	40					2																	97529765		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97529765G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1228C>T	2.37:g.97529765G>A	ENSP00000306844:p.Arg410Cys						p.R410C	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			11	1360	-			410			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1228C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528016	0.85706	.	.	ENSG00000168758	ENST00000305476	T	0.34072	1.38	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.106709	0.64402	D	0.000004	T	0.67515	0.2901	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.63283	0.913;0.913	T	0.75328	-0.3356	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	410;120	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	410	ENSP00000306844:R410C	ENSP00000306844:R410C	R	-	1	0	SEMA4C	96893492	0.599000	0.26891	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	2.667000	0.90743	0.561000	0.74099	CGC		0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		37	180	0	0	0	1	0	37	180					A	97529765	G	A	97529765	3	1	79	1	0	0	0	0	1	0	0	0	14083	1116	39	1	1293	1	SEMA4C	2	97529765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2725	97529765	145669608	2675	12992											
ZAP70	7535	broad.mit.edu	37	chr2	98340826	98340826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggccgtcgggcctcgaGccgcagccgggggtcttcga	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	ENST00000264972.5	+	3	542	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	109	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGG	0.711																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(325-327)gaG>gaA		zeta-chain (TCR) associated protein kinase 70kDa							5	6	6					2																	98340826		1890	3801	5691	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340826G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.327G>A	2.37:g.98340826G>A							p.E109E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	542	+			109			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.327G>A	CCDS33254.1																																																																																				0.711	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			8	43	0	0	0	1	0	8	43					A	98340826	G	A	98340826	2	1	79	1	0	0	0	0	0	0	0	1	17568	962	34	2		2	ZAP70	2	98340826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811061	98340826	144858547	2676	12993											
ZAP70	7535	broad.mit.edu	37	chr2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcgtgactacgtgcgccaGacgtggaagctggaggtgag	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	129	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(385-387)caG>caT		zeta-chain (TCR) associated protein kinase 70kDa							5	6	5					2																	98340886		1968	3950	5918	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340886G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.387G>T	2.37:g.98340886G>T	ENSP00000264972:p.Gln129His						p.Q129H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	602	+			129			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.387G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730690	0.48939	.	.	ENSG00000115085	ENST00000264972	T	0.25912	1.77	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.47852	D	0.000211	T	0.25344	0.0616	L	0.45137	1.4	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.03673	-1.1014	10	0.54805	T	0.06	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	129;129	B4E0E2;P43403	.;ZAP70_HUMAN	H	129	ENSP00000264972:Q129H	ENSP00000264972:Q129H	Q	+	3	2	ZAP70	97707318	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	1.599000	0.36751	2.449000	0.82847	0.467000	0.42956	CAG		0.701	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	44	1	0	0.335167	1	0.335247	10	44					T	98340886	G	T	98340886	3	4	79	1	0	0	0	0	1	0	0	0	17568	933	33	3	389	3	ZAP70	2	98340886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	98340886	144858487	2677	12994											
ZAP70	7535	broad.mit.edu	37	chr2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctttagcctcagagaCgaatcgacaccctcaactca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	283	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(847-849)Cga>Tga		zeta-chain (TCR) associated protein kinase 70kDa							68	58	61					2																	98350016		2203	4300	6503	SO:0001587	stop_gained	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98350016C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.847C>T	2.37:g.98350016C>T	ENSP00000264972:p.Arg283*					ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*|ZAP70_ENST00000463643.1_3'UTR	p.R283*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			8	1062	+			283			Interdomain B.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Nonsense_Mutation	SNP	ENST00000264972.5	37	c.847C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677893	0.68042	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	.	.	.	4.43	2.47	0.30058	.	0.517370	0.15567	N	0.255631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2272	0.15401	0.2:0.6941:0.0:0.1058	.	.	.	.	X	283;157	.	ENSP00000264972:R283X	R	+	1	2	ZAP70	97716448	0.836000	0.29430	0.973000	0.42090	0.794000	0.44872	0.509000	0.22707	1.202000	0.43218	0.563000	0.77884	CGA		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			39	456	0	0	0	1	0	39	456					T	98350016	C	T	98350016	4	4	79	1	0	0	0	0	0	1	0	0	17568	528	19	1	869	1	ZAP70	2	98350016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9130	98350016	144849357	2678	12995											
ZAP70	7535	broad.mit.edu	37	chr2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagagatgatgcgcgagGcgcagatcatgcaccagctg	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1159-1161)Gcg>Acg		zeta-chain (TCR) associated protein kinase 70kDa							158	130	140					2																	98351789		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351789G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1159G>A	2.37:g.98351789G>A	ENSP00000264972:p.Ala387Thr					ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T|ZAP70_ENST00000463643.1_3'UTR	p.A387T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1374	+			387			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1159G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541711	0.85917	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	T	0.74512	0.3726	M	0.70787	2.145	0.80722	D	1	D;D	0.63046	0.992;0.965	P;P	0.55545	0.741;0.778	T	0.77035	-0.2737	10	0.87932	D	0	.	17.5952	0.88010	0.0:0.0:1.0:0.0	.	261;387	P43403-3;P43403	.;ZAP70_HUMAN	T	387;261;80	ENSP00000264972:A387T;ENSP00000411141:A261T;ENSP00000400475:A80T	ENSP00000264972:A387T	A	+	1	0	ZAP70	97718221	1.000000	0.71417	0.989000	0.46669	0.199000	0.23934	9.823000	0.99369	2.844000	0.97970	0.643000	0.83706	GCG		0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			233	608	0	0	0	1	0	233	608					A	98351789	G	A	98351789	3	1	79	1	0	0	0	0	1	0	0	0	17568	1203	42	2	1189	2	ZAP70	2	98351789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	98351789	144847584	2679	12996											
ZAP70	7535	broad.mit.edu	37	chr2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcaagtggtacgcacccGaatgcatcaacttccgcaag	9	14	2	0	rs550812644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.001					ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1525-1527)Gaa>Aaa		zeta-chain (TCR) associated protein kinase 70kDa							118	126	123					2																	98354262		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354262G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1525G>A	2.37:g.98354262G>A	ENSP00000264972:p.Glu509Lys					ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K|ZAP70_ENST00000463643.1_3'UTR	p.E509K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			12	1740	+			509			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1525G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512702	0.96402	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.84370	-1.84;-1.84;-1.84	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	D	0.96081	0.8723	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97885	1.0294	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	383;509	P43403-3;P43403	.;ZAP70_HUMAN	K	509;383;202	ENSP00000264972:E509K;ENSP00000411141:E383K;ENSP00000400475:E202K	ENSP00000264972:E509K	E	+	1	0	ZAP70	97720694	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.956000	0.87863	2.610000	0.88304	0.655000	0.94253	GAA		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			194	952	0	0	0	1	0	194	952					A	98354262	G	A	98354262	3	1	79	1	0	0	0	0	1	0	0	0	17568	1059	37	1	1563	1	ZAP70	2	98354262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	98354262	144845111	2680	12997											
TMEM131	23505	broad.mit.edu	37	chr2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtggtgaagggaaggGcgctgctaaggttgctggac	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1816						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5446-5448)gCc>gTc		transmembrane protein 131							141	144	143					2																	98373767		2148	4256	6404	SO:0001583	missense	23505					integral to membrane		g.chr2:98373767G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5447C>T	2.37:g.98373767G>A	ENSP00000186436:p.Ala1816Val						p.A1816V	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5675	-			1816						Missense_Mutation	SNP	ENST00000186436.5	37	c.5447C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044813	0.36085	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.47	4.56	0.56223	.	0.550760	0.21063	N	0.080790	T	0.23532	0.0569	N	0.14661	0.345	0.41406	D	0.987701	B;B	0.22414	0.005;0.069	B;B	0.24701	0.01;0.055	T	0.07233	-1.0783	10	0.56958	D	0.05	-0.0624	10.5944	0.45329	0.0:0.2379:0.6324:0.1297	.	1816;196	Q92545;Q0P631	TM131_HUMAN;.	V	1816	ENSP00000186436:A1816V	ENSP00000186436:A1816V	A	-	2	0	TMEM131	97740199	0.994000	0.37717	0.253000	0.24343	0.984000	0.73092	2.242000	0.43106	1.487000	0.48415	0.637000	0.83480	GCC		0.592	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		68	284	0	0	0	1	0	68	284					A	98373767	G	A	98373767	3	1	79	1	0	0	0	0	1	0	0	0	16096	1203	42	2	208	2	TMEM131	2	98373767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19505	98373767	144825606	2681	12998											
TMEM131	23505	broad.mit.edu	37	chr2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctggaccaaatggaGctgctgaatggagtggtgga	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1806	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5416-5418)agC>agA		transmembrane protein 131							145	148	147					2																	98373796		2146	4246	6392	SO:0001583	missense	23505					integral to membrane		g.chr2:98373796G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5418C>A	2.37:g.98373796G>T	ENSP00000186436:p.Ser1806Arg						p.S1806R	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5646	-			1806			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5418C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304642	0.60305	.	.	ENSG00000075568	ENST00000186436	T	0.38077	1.16	5.48	2.51	0.30379	.	0.294098	0.46758	D	0.000266	T	0.24624	0.0597	L	0.32530	0.975	0.80722	D	1	B;P	0.41188	0.058;0.741	B;B	0.39258	0.03;0.295	T	0.02676	-1.1125	10	0.46703	T	0.11	-1.3683	7.3311	0.26584	0.4024:0.0:0.5976:0.0	.	1806;186	Q92545;Q0P631	TM131_HUMAN;.	R	1806	ENSP00000186436:S1806R	ENSP00000186436:S1806R	S	-	3	2	TMEM131	97740228	0.956000	0.32656	0.852000	0.33557	0.931000	0.56810	1.564000	0.36375	0.874000	0.35823	0.643000	0.83706	AGC		0.602	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		90	298	1	0	8.55712e-49	1	1.05692e-48	90	298					T	98373796	G	T	98373796	3	4	79	1	0	0	0	0	1	0	0	0	16096	962	34	3	237	3	TMEM131	2	98373796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	98373796	144825577	2682	12999											
TMEM131	23505	broad.mit.edu	37	chr2	98422056	98422056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttccttattgccccgTaatcgtttatagtaaaatcg	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	722						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2164-2166)ttA>ttG		transmembrane protein 131							192	202	199					2																	98422056		1817	4076	5893	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98422056T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2166A>G	2.37:g.98422056T>C							p.L722L	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			20	2394	-			722						Silent	SNP	ENST00000186436.5	37	c.2166A>G	CCDS46368.1																																																																																				0.323	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		266	918	0	0	0	1	0	266	918					C	98422056	T	C	98422056	2	2	79	1	0	0	0	0	0	0	0	1	16096	1635	57	4		4	TMEM131	2	98422056	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48260	98422056	144777317	2683	13000											
TMEM131	23505	broad.mit.edu	37	chr2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcactcagtactccaaaatCtatgaaacgttcctctattt	4	11	3	1	rs369284204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACTCCAAAATCTATGAAACGT	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1657-1659)Gat>Aat		transmembrane protein 131		C	ASN/ASP	0,3612		0,0,1806	55	56	55		1657	5.6	1	2		55	1,8121		0,1,4060	no	missense	TMEM131	NM_015348.1	23	0,1,5866	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	553/1884	98429173	1,11733	1806	4061	5867	SO:0001583	missense	23505					integral to membrane		g.chr2:98429173C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1657G>A	2.37:g.98429173C>T	ENSP00000186436:p.Asp553Asn						p.D553N	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			16	1885	-			553						Missense_Mutation	SNP	ENST00000186436.5	37	c.1657G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385078	0.82792	0.0	1.23E-4	ENSG00000075568	ENST00000186436	T	0.41400	1.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52653	-0.8547	10	0.44086	T	0.13	-19.9906	18.0982	0.89497	0.0:1.0:0.0:0.0	.	553	Q92545	TM131_HUMAN	N	553	ENSP00000186436:D553N	ENSP00000186436:D553N	D	-	1	0	TMEM131	97795605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAT		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		11	236	0	0	0	1	0	11	236					T	98429173	C	T	98429173	3	4	79	1	0	0	0	0	1	0	0	0	16096	913	32	2	4098	2	TMEM131	2	98429173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7117	98429173	144770200	2684	13001											
TMEM131	23505	broad.mit.edu	37	chr2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatcgtgaatgaggatcGcaaaactgaaagtgttagta	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral component of membrane (GO:0016021)		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408																																						ENST00000186436.5																			1	Substitution - Missense(1)	p.A352V(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1393-1395)gCg>gTg		transmembrane protein 131							105	100	102					2																	98430750		1893	4128	6021	SO:0001583	missense	23505					integral to membrane		g.chr2:98430750G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1394C>T	2.37:g.98430750G>A	ENSP00000186436:p.Ala465Val						p.A465V	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			14	1622	-			465						Missense_Mutation	SNP	ENST00000186436.5	37	c.1394C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	TMEM131	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		58	270	0	0	0	1	0	58	270					A	98430750	G	A	98430750	3	1	79	1	0	0	0	0	1	0	0	0	16096	1087	38	1	4369	1	TMEM131	2	98430750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1577	98430750	144768623	2685	13002											
VWA3B	200403	broad.mit.edu	37	chr2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgcatgggcttaagaGcaacaaattgaccttgaaac	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	47										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						GGGCTTAAGAGCAACAAATTG	0.448																																						ENST00000477737.1																			0				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						c.(139-141)aGc>aAc		von Willebrand factor A domain containing 3B							128	119	122					2																	98709695		1969	4160	6129	SO:0001583	missense	200403							g.chr2:98709695G>A	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.140G>A	2.37:g.98709695G>A	ENSP00000417955:p.Ser47Asn					VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			2	344	+			47					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.140G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469179	0.26423	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38887	1.11;1.11	5.52	1.49	0.22878	.	0.364292	0.30446	N	0.009620	T	0.21103	0.0508	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16289	0.003;0.015	T	0.04347	-1.0958	10	0.25751	T	0.34	.	4.8174	0.13374	0.2586:0.3219:0.4195:0.0	.	47;47	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	47	ENSP00000401959:S47N;ENSP00000417955:S47N	ENSP00000411168:S47N	S	+	2	0	VWA3B	98076127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	0.419000	0.25927	0.650000	0.86243	AGC		0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		58	567	0	0	0	1	0	58	567					A	98709695	G	A	98709695	3	1	79	1	0	0	0	0	1	0	0	0	17295	971	34	2	142	2	VWA3B	2	98709695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278945	98709695	144489678	2686	13003											
VWA3B	200403	broad.mit.edu	37	chr2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T													ccgagagaacagagtgtgtaGaatttcctgcattctccaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	303										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						AGAGTGTGTAGAATTTCCTGC	0.458																																						ENST00000477737.1																			0				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						c.(907-909)Gaa>Taa		von Willebrand factor A domain containing 3B							291	274	280					2																	98750321		2048	4205	6253	SO:0001587	stop_gained	200403							g.chr2:98750321G>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.907G>T	2.37:g.98750321G>T	ENSP00000417955:p.Glu303*					VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1111	+			303					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	37	c.907G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440653	0.83993	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.66	2.81	0.32909	.	1.314060	0.04874	N	0.446518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.8642	0.29528	0.0754:0.0:0.6401:0.2844	.	.	.	.	X	303;303;153	.	ENSP00000411168:E303X	E	+	1	0	VWA3B	98116753	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.226000	0.32563	0.290000	0.22444	-0.169000	0.13324	GAA		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		196	954	1	0	1.26091e-62	1	1.58936e-62	196	954					T	98750321	G	T	98750321	4	4	79	1	0	0	0	0	0	1	0	0	17295	943	33	3	929	3	VWA3B	2	98750321	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40626	98750321	144449052	2687	13004	80	2									
VWA3B	200403	broad.mit.edu	37	chr2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A													gaacagagtgtgtagaatttCctgcattctccacaaaggat					rs527274933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	305								p.P305S(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						TGTAGAATTTCCTGCATTCTC	0.458																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.P305S(1)	NS(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						c.(913-915)Cct>Act		von Willebrand factor A domain containing 3B							290	274	279					2																	98750327		2042	4196	6238	SO:0001583	missense	200403							g.chr2:98750327C>A	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.913C>A	2.37:g.98750327C>A	ENSP00000417955:p.Pro305Thr					VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1117	+			305					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.913C>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629337	0.28978	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.22336	1.96;3.4;2.49	5.66	2.84	0.33178	.	0.306720	0.28219	N	0.016155	T	0.18718	0.0449	L	0.59436	1.845	0.09310	N	1	B;B;B	0.23442	0.04;0.085;0.066	B;B;B	0.19946	0.012;0.02;0.027	T	0.17592	-1.0364	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.7487:0.0:0.2513	.	155;305;305	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	305;305;155	ENSP00000401959:P305T;ENSP00000417955:P305T;ENSP00000389463:P155T	ENSP00000411168:P305T	P	+	1	0	VWA3B	98116759	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.480000	0.22244	0.730000	0.32425	-0.140000	0.14226	CCT		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		183	934	1	0	2.27795e-59	1	2.8603e-59	183	934					A	98750327	C	A	98750327	3	1	79	1	0	0	0	0	1	0	0	0	17295	855	30	3	935	3	VWA3B	2	98750327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	98750327	144449046	2688	13005	80	2									
VWA3B	200403	broad.mit.edu	37	chr2	98846533	98846533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatcaaaaggaaatctgttCtatgatttcaaccccagaaa	6	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98846533C>A	ENST00000477737.1	+	16	2375	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	724										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						GAAATCTGTTCTATGATTTCA	0.373																																						ENST00000477737.1																			0				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						c.(2170-2172)tCt>tAt		von Willebrand factor A domain containing 3B							98	89	92					2																	98846533		1821	4080	5901	SO:0001583	missense	200403							g.chr2:98846533C>A	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.2171C>A	2.37:g.98846533C>A	ENSP00000417955:p.Ser724Tyr						p.S724Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			16	2375	+			724					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2171C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.721|1.721	-0.496703|-0.496703	0.04291|0.04291	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.06687	.|3.27	4.29|4.29	3.33|3.33	0.38152|0.38152	.|.	.|0.572159	.|0.14676	.|N	.|0.305036	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.51422|0.51422	1.61|1.61	0.19575|0.19575	N|N	0.999964|0.999964	.|D;P;P;D	.|0.89917	.|0.983;0.947;0.799;1.0	.|P;P;B;D	.|0.74023	.|0.804;0.556;0.366;0.982	T|T	0.01702|0.01702	-1.1292|-1.1292	5|10	.|0.87932	.|D	.|0	.|.	8.8288|8.8288	0.35072|0.35072	0.2239:0.7761:0.0:0.0|0.2239:0.7761:0.0:0.0	.|.	.|116;724;724;724	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	L|Y	134|724	.|ENSP00000417955:S724Y	.|ENSP00000417955:S724Y	F|S	+|+	3|2	2|0	VWA3B|VWA3B	98212965|98212965	0.241000|0.241000	0.23857|0.23857	0.170000|0.170000	0.22879|0.22879	0.988000|0.988000	0.76386|0.76386	1.781000|1.781000	0.38644|0.38644	2.384000|2.384000	0.81235|0.81235	0.491000|0.491000	0.48974|0.48974	TTC|TCT		0.373	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	381	1	0	7.48243e-07	1	7.73841e-07	9	381					A	98846533	C	A	98846533	3	1	79	1	0	0	0	0	1	0	0	0	17295	913	32	3	2229	3	VWA3B	2	98846533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96206	98846533	144352840	2689	13006											
VWA3B	200403	broad.mit.edu	37	chr2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctccacctatgttcccGtcctggacaagcatgtcgtg	9	14	0	0	rs370362777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(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						CTATGTTCCCGTCCTGGACAA	0.478																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.V879F(1)	lung(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						c.(2635-2637)Gtc>Atc		von Willebrand factor A domain containing 3B		G	ILE/VAL	1,4057		0,1,2028	128	135	133		2635	-5.5	0	2		133	2,8398		0,2,4198	no	missense	VWA3B	NM_144992.4	29	0,3,6226	AA,AG,GG		0.0238,0.0246,0.0241	benign	879/1295	98853155	3,12455	2029	4200	6229	SO:0001583	missense	200403							g.chr2:98853155G>A	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.2635G>A	2.37:g.98853155G>A	ENSP00000417955:p.Val879Ile						p.V879I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			19	2839	+			879					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2635G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.788127|-1.788127	0.00628|0.00628	2.46E-4|2.46E-4	2.38E-4|2.38E-4	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.04603	.|3.59	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.01505|0.01505	-0.83|-0.83	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.15719	.|0.007;0.014;0.005;0.005	.|B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	H|I	289|879	.|ENSP00000417955:V879I	.|ENSP00000417955:V879I	R|V	+|+	2|1	0|0	VWA3B|VWA3B	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		137	806	0	0	0	1	0	137	806					A	98853155	G	A	98853155	3	1	79	1	0	0	0	0	1	0	0	0	17295	1145	40	1	2705	1	VWA3B	2	98853155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6622	98853155	144346218	2690	13007											
VWA3B	200403	broad.mit.edu	37	chr2	98928393	98928393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaggaaaaagaggccCgccaagcagccactccagca	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1211										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						AAAAGAGGCCCGCCAAGCAGC	0.642																																						ENST00000477737.1																			0				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						c.(3631-3633)ccC>ccT		von Willebrand factor A domain containing 3B							10	16	14					2																	98928393		1852	4076	5928	SO:0001819	synonymous_variant	200403							g.chr2:98928393C>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.3633C>T	2.37:g.98928393C>T						VWA3B_ENST00000490947.2_3'UTR	p.P1211P	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3837	+			1211					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3633C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687052	0.03328	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-6.28	0.02020	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	13.2536	0.60066	0.0:0.1782:0.0:0.8218	.	.	.	.	C	622	.	.	R	+	1	0	VWA3B	98294825	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-1.161000	0.03144	-1.552000	0.01704	-0.339000	0.08088	CGC		0.642	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		31	58	0	0	0	1	0	31	58					T	98928393	C	T	98928393	2	4	79	1	0	0	0	0	0	0	0	1	17295	639	23	1		1	VWA3B	2	98928393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75238	98928393	144270980	2691	13008											
CNGA3	1261	broad.mit.edu	37	chr2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtatgtcttggatgtgCttgtacgagctcggacaggt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000272602.2	+	6	694	c.655C>A	c.(655-657)Ctt>Att	p.L219I	CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	219					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGGATGTGCTTGTACGAGC	0.597																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(655-657)Ctt>Att		cyclic nucleotide gated channel alpha 3							176	129	145					2																	99008415		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99008415C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.655C>A	2.37:g.99008415C>A	ENSP00000272602:p.Leu219Ile					CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000272602.2_Missense_Mutation_p.L219I	p.L219I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			7	1072	+			219					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.655C>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433896	0.04669	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.28	3.46	0.39613	Ion transport (1);	0.120714	0.56097	D	0.000022	D	0.93481	0.7920	N	0.13327	0.33	0.25395	N	0.988493	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17098	0.013;0.013;0.017	D	0.85723	0.1326	10	0.22706	T	0.39	.	9.4971	0.38995	0.0:0.772:0.0:0.228	.	223;201;219	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	219;201;219;223	ENSP00000377140:L219I;ENSP00000410070:L201I;ENSP00000272602:L219I;ENSP00000386761:L223I	ENSP00000272602:L219I	L	+	1	0	CNGA3	98374847	0.015000	0.18098	0.997000	0.53966	0.084000	0.17831	0.298000	0.19120	1.473000	0.48159	-0.137000	0.14449	CTT		0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		62	278	1	0	1.31726e-23	1	1.49873e-23	62	278					A	99008415	C	A	99008415	3	1	79	1	0	0	0	0	1	0	0	0	3607	797	28	3	677	3	CNGA3	2	99008415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80022	99008415	144190958	2692	13009											
CNGA3	1261	broad.mit.edu	37	chr2	99012701	99012701	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaagtacatttacagtctCtactggtccaccttgaccct	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000272602.2	+	7	1107	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000393504.1_Silent_p.L356L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	356					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTACAGTCTCTACTGGTCCA	0.512																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1066-1068)ctC>ctA		cyclic nucleotide gated channel alpha 3							83	83	83					2																	99012701		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012701C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1068C>A	2.37:g.99012701C>A						CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000272602.2_Silent_p.L356L	p.L356L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1485	+			356					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1068C>A	CCDS2034.1																																																																																				0.512	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		83	385	1	0	3.26865e-45	1	4.00579e-45	83	385					A	99012701	C	A	99012701	2	1	79	1	0	0	0	0	0	0	0	1	3607	900	32	3		3	CNGA3	2	99012701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4286	99012701	144186672	2693	13010											
CNGA3	1261	broad.mit.edu	37	chr2	99013655	99013655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaagggtggtggggaCaagcccctggctgatgggga	20	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000272602.2	+	7	2061	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000393504.1_Silent_p.D674D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	674					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGGGACAAGCCCCTGG	0.552																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(2020-2022)gaC>gaT		cyclic nucleotide gated channel alpha 3							38	40	39					2																	99013655		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013655C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2022C>T	2.37:g.99013655C>T						CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000272602.2_Silent_p.D674D	p.D674D	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2439	+			674					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.2022C>T	CCDS2034.1																																																																																				0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		66	197	0	0	0	1	0	66	197					T	99013655	C	T	99013655	2	4	79	1	0	0	0	0	0	0	0	1	3607	477	17	2		2	CNGA3	2	99013655	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954	99013655	144185718	2694	13011											
INPP4A	3631	broad.mit.edu	37	chr2	99185040	99185040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataacctcccaaggtttggCgatacgtctttacaagaagt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000523221.1	+	21	2442	c.2442C>T	c.(2440-2442)ggC>ggT	p.G814G	INPP4A_ENST00000409016.4_Silent_p.G775G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000074304.5_Silent_p.G814G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000467042.1_3'UTR			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	814					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)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGGTTTGGCGATACGTCTT	0.413																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2440-2442)ggC>ggT		inositol polyphosphate-4-phosphatase, type I, 107kDa							103	98	100					2																	99185040		1918	4118	6036	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99185040C>T	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.2442C>T	2.37:g.99185040C>T						INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000523221.1_Silent_p.G814G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409016.3_Silent_p.G775G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409851.3_Silent_p.G809G	p.G814G	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			23	2835	+			814					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.2442C>T	CCDS46369.1																																																																																				0.413	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		8	49	0	0	0	1	0	8	49					T	99185040	C	T	99185040	2	4	79	1	0	0	0	0	0	0	0	1	7782	755	27	1		1	INPP4A	2	99185040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171385	99185040	144014333	2695	13012											
UNC50	25972	broad.mit.edu	37	chr2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgctgcctggcagatgCtctacctgttcacatcccca	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000357765.2	+	2	312	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.L71F|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	54					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(211-213)Ctc>Ttc		unc-50 homolog (C. elegans)							105	107	106					2																	99226382		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226382C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.160C>T	2.37:g.99226382C>T	ENSP00000350409:p.Leu54Phe					UNC50_ENST00000357765.2_Missense_Mutation_p.L54F|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F	p.L71F			Q53HI1	UNC50_HUMAN			1	1341	+			54					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.211C>T	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823659	0.50739	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.126220	0.56097	D	0.000040	T	0.45013	0.1321	N	0.20685	0.6	0.80722	D	1	B	0.25007	0.116	B	0.28638	0.092	T	0.32508	-0.9904	9	0.16420	T	0.52	-20.4457	18.0646	0.89387	0.0:1.0:0.0:0.0	.	54	Q53HI1	UNC50_HUMAN	F	54;71;71	.	ENSP00000350409:L54F	L	+	1	0	UNC50	98592814	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.511000	0.60462	2.505000	0.84491	0.591000	0.81541	CTC		0.488	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		107	546	0	0	0	1	0	107	546					T	99226382	C	T	99226382	3	4	79	1	0	0	0	0	1	0	0	0	17044	797	28	2	162	2	UNC50	2	99226382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41342	99226382	143972991	2696	13013											
UNC50	25972	broad.mit.edu	37	chr2	99226447	99226447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgaaaacagacgaaggaCcagtgggccagagatgaccc	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000357765.2	+	2	377	c.225C>T	c.(223-225)gaC>gaT	p.D75D	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Silent_p.D92D|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Silent_p.D92D|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	75					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(274-276)gaC>gaT		unc-50 homolog (C. elegans)							54	58	57					2																	99226447		2203	4300	6503	SO:0001819	synonymous_variant	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226447C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.225C>T	2.37:g.99226447C>T						UNC50_ENST00000357765.2_Silent_p.D75D|UNC50_ENST00000409347.1_Silent_p.D92D	p.D92D			Q53HI1	UNC50_HUMAN			1	1406	+			75					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Silent	SNP	ENST00000357765.2	37	c.276C>T	CCDS2035.1																																																																																				0.448	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		95	240	0	0	0	1	0	95	240					T	99226447	C	T	99226447	2	4	79	1	0	0	0	0	0	0	0	1	17044	506	18	2		2	UNC50	2	99226447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	99226447	143972926	2697	13014											
C2orf55	343990	broad.mit.edu	37	chr2	99438351	99438351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcggccttttctccgcCgtcctgggctccttcctggg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99438351C>T	ENST00000397899.2	-	7	2716	c.2385G>A	c.(2383-2385)acG>acA	p.T795T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	795	Pro-rich.																TTTTCTCCGCCGTCCTGGGCT	0.716																																						ENST00000397899.2																			0											c.(2383-2385)acG>acA		KIAA1211-like							14	16	15					2																	99438351		1863	4103	5966	SO:0001819	synonymous_variant	343990							g.chr2:99438351C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2385G>A	2.37:g.99438351C>T							p.T795T	NM_207362.2	NP_997245.2					7	2716	-									Silent	SNP	ENST00000397899.2	37	c.2385G>A	CCDS42720.1																																																																																				0.716	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		35	106	0	0	0	1	0	35	106					T	99438351	C	T	99438351	2	4	79	1	0	0	0	0	0	0	0	1	2183	639	23	1		1	C2orf55	2	99438351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211904	99438351	143761022	2698	13015											
TSGA10	80705	broad.mit.edu	37	chr2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttaatctgttaccCtctgcctcagcagtgataag	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	451					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTGTTACCCTCTGCCTCAG	0.373																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1351-1353)gaG>gaT		testis specific, 10							150	141	144					2																	99681453		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681453C>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1353G>T	2.37:g.99681453C>A	ENSP00000377123:p.Glu451Asp					TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D	p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2197	-			451					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1353G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391315	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02244	-1.1189	10	0.34782	T	0.22	-13.7504	8.0984	0.30842	0.0:0.8223:0.0:0.1777	.	451	Q9BZW7	TSG10_HUMAN	D	451	ENSP00000377123:E451D;ENSP00000386956:E451D;ENSP00000347161:E451D;ENSP00000444419:E451D;ENSP00000386508:E451D;ENSP00000377122:E451D	ENSP00000347161:E451D	E	-	3	2	TSGA10	99047885	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.021000	0.41020	1.476000	0.48215	0.585000	0.79938	GAG		0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		71	346	1	0	5.62145e-24	1	6.41091e-24	71	346					A	99681453	C	A	99681453	3	1	79	1	0	0	0	0	1	0	0	0	16670	680	24	3	767	3	TSGA10	2	99681453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243102	99681453	143517920	2699	13016											
TSGA10	80705	broad.mit.edu	37	chr2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggagaatagcatgtgccGttgttgatttaggactctta	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.T93M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413																																						ENST00000393483.3																			1	Substitution - Missense(1)	p.T93M(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(277-279)aCg>aTg		testis specific, 10							238	229	232					2																	99722093		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99722093G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.278C>T	2.37:g.99722093G>A	ENSP00000377123:p.Thr93Met					TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M	p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			8	1122	-			93					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.278C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	TSGA10	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG		0.413	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		262	765	0	0	0	1	0	262	765					A	99722093	G	A	99722093	3	1	79	1	0	0	0	0	1	0	0	0	16670	1145	40	1	1874	1	TSGA10	2	99722093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40640	99722093	143477280	2700	13017											
MITD1	129531	broad.mit.edu	37	chr2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatcaagtccccttccaatCttaatcatccatccattgtt	2	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	206	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(616-618)aaG>aaT		MIT, microtubule interacting and transport, domain containing 1							67	70	69					2																	99786049		2203	4292	6495	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99786049C>A	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.618G>T	2.37:g.99786049C>A	ENSP00000289359:p.Lys206Asn					MRPL30_ENST00000410042.1_Intron	p.K206N	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			6	694	-			206					Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.618G>T	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852900	0.71719	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.53640	0.61;0.64	5.64	2.41	0.29592	.	0.188632	0.53938	D	0.000050	T	0.68458	0.3003	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.68157	-0.5483	10	0.54805	T	0.06	-6.5332	8.9691	0.35894	0.0:0.7264:0.0:0.2736	.	206	Q8WV92	MITD1_HUMAN	N	188;206;177	ENSP00000289359:K206N;ENSP00000387316:K177N	ENSP00000289359:K206N	K	-	3	2	MITD1	99152481	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.297000	0.22615	0.650000	0.86243	AAG		0.289	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		99	330	1	0	2.26856e-23	1	2.57851e-23	99	330					A	99786049	C	A	99786049	3	1	79	1	0	0	0	0	1	0	0	0	9636	912	32	3	139	3	MITD1	2	99786049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63956	99786049	143413324	2701	13018											
MITD1	129531	broad.mit.edu	37	chr2	99797352	99797352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacacaccagagcctgcggAtaccgcgactccgaatctag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_ENST00000410042.1_Intron|C2orf15_ENST00000512183.2_5'Flank|MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000338148.3_5'Flank|MRPL30_ENST00000409145.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	31	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(91-93)taT>taC		MIT, microtubule interacting and transport, domain containing 1							93	91	92					2																	99797352		2203	4300	6503	SO:0001819	synonymous_variant	129531				protein transport	late endosome membrane		g.chr2:99797352A>G	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.93T>C	2.37:g.99797352A>G						MRPL30_ENST00000410042.1_Intron	p.Y31Y	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			1	169	-			31			MIT.		Q69YV0	Silent	SNP	ENST00000289359.2	37	c.93T>C	CCDS2040.1																																																																																				0.577	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		142	420	0	0	0	1	0	142	420					G	99797352	A	G	99797352	2	3	79	1	0	0	0	0	0	0	0	1	9636	340	12	4		4	MITD1	2	99797352	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11303	99797352	143402021	2702	13019											
LYG2	254773	broad.mit.edu	37	chr2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcaatgatatcattgaCgaagtcattgtctatgtccg	9	8	3	2	rs368752128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000409238.1	-	5	609	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.V197I			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	197					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463																																						ENST00000333017.2																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(589-591)Gtc>Atc		lysozyme G-like 2		C	ILE/VAL	0,4406		0,0,2203	148	140	143		589	1.1	0	2		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYG2	NM_175735.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	197/213	99858877	1,13005	2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99858877C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.589G>A	2.37:g.99858877C>T	ENSP00000386939:p.Val197Ile					LYG2_ENST00000409238.1_Missense_Mutation_p.V197I	p.V197I	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN			6	701	-			197					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.589G>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534530	0.27475	0.0	1.16E-4	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	1.12	0.20585	Lysozyme-like domain (1);	0.831283	0.10545	N	0.662243	T	0.35189	0.0923	M	0.68317	2.08	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.31166	-0.9953	8	.	.	.	-11.8698	3.2272	0.06736	0.1853:0.513:0.0:0.3017	.	197	Q86SG7	LYG2_HUMAN	I	197	.	.	V	-	1	0	LYG2	99225309	0.039000	0.19947	0.001000	0.08648	0.521000	0.34408	0.511000	0.22739	0.353000	0.24079	0.563000	0.77884	GTC		0.463	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		126	612	0	0	0	1	0	126	612					T	99858877	C	T	99858877	3	4	79	1	0	0	0	0	1	0	0	0	9144	536	19	1	53	1	LYG2	2	99858877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61525	99858877	143340496	2703	13020											
LYG2	254773	broad.mit.edu	37	chr2	99863270	99863270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgactgaaggggtatgaGcccctggaagtgcctaggag	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409238.1	-	2	77	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000409679.1_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	19				G -> S (in Ref. 4; AAK16605/AAO32945). {ECO:0000305}.	cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(55-57)ggC>ggT		lysozyme G-like 2							134	115	122					2																	99863270		2203	4300	6503	SO:0001819	synonymous_variant	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863270G>A	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.57C>T	2.37:g.99863270G>A						LYG2_ENST00000409238.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G	p.G19G			Q86SG7	LYG2_HUMAN			3	201	-			19	G -> S (in Ref. 4; AAK16605/AAO32945).				Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	c.57C>T	CCDS2042.1																																																																																				0.498	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		69	340	0	0	0	1	0	69	340					A	99863270	G	A	99863270	2	1	79	1	0	0	0	0	0	0	0	1	9144	958	34	2		2	LYG2	2	99863270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4393	99863270	143336103	2704	13021											
LYG1	129530	broad.mit.edu	37	chr2	99907721	99907721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccatgctagtcctatcGcccatgttgaccagaatttt	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	104					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(310-312)ggC>ggT		lysozyme G-like 1							163	135	145					2																	99907721		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99907721G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.312C>T	2.37:g.99907721G>A						LYG1_ENST00000308528.4_Silent_p.G104G	p.G104G			Q8N1E2	LYG1_HUMAN			6	628	-			104					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.312C>T	CCDS2043.1																																																																																				0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		88	277	0	0	0	1	0	88	277					A	99907721	G	A	99907721	2	1	79	1	0	0	0	0	0	0	0	1	9143	1074	38	1		1	LYG1	2	99907721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44451	99907721	143291652	2705	13022											
LYG1	129530	broad.mit.edu	37	chr2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtagttcaggccgtgacGtcttccaatcccacaagatg	9	12	2	2	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	43					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		16491	0.0		0.0	False		,,,				2504	0.002					ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(127-129)Cgt>Tgt		lysozyme G-like 1		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	178	166	170		127	-0.6	0	2	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LYG1	NM_174898.2	180	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	43/195	99909020	4,13002	2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909020G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.127C>T	2.37:g.99909020G>A	ENSP00000386923:p.Arg43Cys					LYG1_ENST00000308528.4_Missense_Mutation_p.R43C	p.R43C			Q8N1E2	LYG1_HUMAN			5	443	-			43					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.127C>T	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256644	0.10185	6.81E-4	1.16E-4	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-0.638	0.11500	Lysozyme-like domain (1);	0.951849	0.08712	N	0.904759	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	8	.	.	.	-2.7594	1.3392	0.02151	0.2605:0.1757:0.4246:0.1392	.	43	Q8N1E2	LYG1_HUMAN	C	43	.	.	R	-	1	0	LYG1	99275452	0.152000	0.22762	0.007000	0.13788	0.007000	0.05969	1.098000	0.31000	0.013000	0.14918	-0.742000	0.03525	CGT		0.512	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		80	382	0	0	0	1	0	80	382					A	99909020	G	A	99909020	3	1	79	1	0	0	0	0	1	0	0	0	9143	1145	40	1	473	1	LYG1	2	99909020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	99909020	143290353	2706	13023											
LYG1	129530	broad.mit.edu	37	chr2	99909057	99909057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctccaggggtgtccagGctttggatgtttccatagca	13	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	30					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(88-90)agC>agT		lysozyme G-like 1							176	162	167					2																	99909057		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909057G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.90C>T	2.37:g.99909057G>A						LYG1_ENST00000308528.4_Silent_p.S30S	p.S30S			Q8N1E2	LYG1_HUMAN			5	406	-			30					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.90C>T	CCDS2043.1																																																																																				0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		125	320	0	0	0	1	0	125	320					A	99909057	G	A	99909057	2	1	79	1	0	0	0	0	0	0	0	1	9143	1194	42	2		2	LYG1	2	99909057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	99909057	143290316	2707	13024											
LYG1	129530	broad.mit.edu	37	chr2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccccagttgctgctttcaGacaagtctacaagttgagaa	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	17					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(49-51)tCt>tAt		lysozyme G-like 1							128	117	121					2																	99909097		2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909097G>T	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.50C>A	2.37:g.99909097G>T	ENSP00000386923:p.Ser17Tyr					LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y	p.S17Y			Q8N1E2	LYG1_HUMAN			5	366	-			17					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.50C>A	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972393	0.34848	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.8	3.92	0.45320	.	0.526107	0.17509	N	0.171684	T	0.31040	0.0784	N	0.22421	0.69	0.24994	N	0.99152	P	0.43701	0.815	P	0.48840	0.592	T	0.06752	-1.0809	8	.	.	.	-6.9946	8.8058	0.34936	0.102:0.0:0.898:0.0	.	17	Q8N1E2	LYG1_HUMAN	Y	17	.	.	S	-	2	0	LYG1	99275529	0.872000	0.30054	0.663000	0.29738	0.167000	0.22549	2.662000	0.46766	1.251000	0.43983	-0.136000	0.14681	TCT		0.423	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		58	271	1	0	3.28156e-27	1	3.79657e-27	58	271					T	99909097	G	T	99909097	3	4	79	1	0	0	0	0	1	0	0	0	9143	942	33	3	550	3	LYG1	2	99909097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	99909097	143290276	2708	13025											
EIF5B	9669	broad.mit.edu	37	chr2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaatcccagagagaagccaGagccagagccgaagctactc	10	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	416					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGAAGCCAGAGCCAGAGCC	0.398																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1246-1248)aGa>aTa		eukaryotic translation initiation factor 5B							133	134	134					2																	99980843		1859	4099	5958	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99980843G>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1247G>T	2.37:g.99980843G>T	ENSP00000289371:p.Arg416Ile						p.R416I	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			6	1449	+			416					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1247G>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617668	0.87359	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.9	4.06	0.47325	.	.	.	.	.	T	0.51244	0.1663	M	0.79926	2.475	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.58070	-0.7701	8	.	.	.	-10.0582	12.1601	0.54099	0.0656:0.1197:0.8148:0.0	.	416	O60841	IF2P_HUMAN	I	416	ENSP00000289371:R416I	.	R	+	2	0	EIF5B	99347275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.325000	0.65869	1.488000	0.48433	0.650000	0.86243	AGA		0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		101	554	1	0	1.11883e-47	1	1.37812e-47	101	554					T	99980843	G	T	99980843	3	4	79	1	0	0	0	0	1	0	0	0	5062	942	33	3	1269	3	EIF5B	2	99980843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71746	99980843	143218530	2709	13026											
EIF5B	9669	broad.mit.edu	37	chr2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttatgaaggcttcagtgAtgttggaacatgaccctcag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1024					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTTCAGTGATGTTGGAACA	0.368																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3070-3072)Atg>Gtg		eukaryotic translation initiation factor 5B							201	188	192					2																	100011029		1889	4107	5996	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100011029A>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3070A>G	2.37:g.100011029A>G	ENSP00000289371:p.Met1024Val						p.M1024V	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			20	3272	+			1024					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.3070A>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247902	0.80024	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.68	5.68	0.88126	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	D	0.61080	0.989	D	0.65684	0.937	T	0.57866	-0.7737	8	.	.	.	-26.622	15.9398	0.79745	1.0:0.0:0.0:0.0	.	1024	O60841	IF2P_HUMAN	V	1024	ENSP00000289371:M1024V	.	M	+	1	0	EIF5B	99377461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.152000	0.67230	0.523000	0.50628	ATG		0.368	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		274	798	0	0	0	1	0	274	798					G	100011029	A	G	100011029	3	3	79	1	0	0	0	0	1	0	0	0	5062	333	12	4	3148	4	EIF5B	2	100011029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30186	100011029	143188344	2710	13027											
REV1	51455	broad.mit.edu	37	chr2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttttcagttcgaactgGtctatcatccaagccacggc	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	702					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCGAACTGGTCTATCATCC	0.403								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2104-2106)Cca>Tca	Direct reversal of damage	REV1, polymerase (DNA directed)							126	114	118					2																	100029261		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100029261G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2104C>T	2.37:g.100029261G>A	ENSP00000258428:p.Pro702Ser					REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	p.P702S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			13	2332	-			702					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2104C>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023083	0.93462	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.72075	0.824;0.976	T	0.53365	-0.8449	10	0.32370	T	0.25	.	19.3712	0.94488	0.0:0.0:1.0:0.0	.	702;701	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	701;702	ENSP00000377091:P701S;ENSP00000258428:P702S	ENSP00000258428:P702S	P	-	1	0	REV1	99395693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.563000	0.86464	0.650000	0.86243	CCA		0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		121	365	0	0	0	1	0	121	365					A	100029261	G	A	100029261	3	1	79	1	0	0	0	0	1	0	0	0	13289	1261	44	2	1695	2	REV1	2	100029261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18232	100029261	143170112	2711	13028											
AFF3	3899	broad.mit.edu	37	chr2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggtcgattttgacccagaGagacctgatctcatcactgt	9	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000317233.4_Missense_Mutation_p.L766I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGACCCAGAGAGACCTGATC	0.577																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2296-2298)Ctc>Atc		AF4/FMR2 family, member 3							70	65	67					2																	100209827		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209827G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2296C>A	2.37:g.100209827G>T	ENSP00000387207:p.Leu766Ile					AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000409236.1_Missense_Mutation_p.L766I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I	p.L766I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2531	-			766					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2296C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245767	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.5	5.5	0.81552	.	0.211909	0.32578	N	0.005904	D	0.90068	0.6898	M	0.87180	2.865	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.96	D	0.90986	0.4831	10	0.62326	D	0.03	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	919;766;791	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	766;791;791;766;766;919	ENSP00000317421:L766I;ENSP00000348793:L791I;ENSP00000386834:L791I;ENSP00000387207:L766I	ENSP00000317421:L766I	L	-	1	0	AFF3	99576259	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	CTC		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		56	301	1	0	1.39843e-22	1	1.58406e-22	56	301					T	100209827	G	T	100209827	3	4	79	1	0	0	0	0	1	0	0	0	358	942	33	3	1428	3	AFF3	2	100209827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180566	100209827	142989546	2712	13029											
AFF3	3899	broad.mit.edu	37	chr2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcccggaggaggcagagGcagccacggtctgtgctttg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000317233.4_Missense_Mutation_p.A698V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	698					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGCAGAGGCAGCCACGGT	0.617																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2092-2094)gCc>gTc		AF4/FMR2 family, member 3							53	59	57					2																	100210030		2203	4297	6500	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210030G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2093C>T	2.37:g.100210030G>A	ENSP00000387207:p.Ala698Val					AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000409236.1_Missense_Mutation_p.A698V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V	p.A698V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2328	-			698					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2093C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611297	0.14066	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.87	3.87	0.44632	.	1.118960	0.06955	N	0.815285	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30851	0.297;0.017;0.069	B;B;B	0.32342	0.144;0.026;0.025	T	0.38134	-0.9675	10	0.25106	T	0.35	.	12.7151	0.57111	0.0:0.0:1.0:0.0	.	851;698;723	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	698;723;723;698;698;851;723	ENSP00000317421:A698V;ENSP00000348793:A723V;ENSP00000386834:A723V;ENSP00000387207:A698V	ENSP00000317421:A698V	A	-	2	0	AFF3	99576462	0.219000	0.23619	0.002000	0.10522	0.221000	0.24807	3.346000	0.52190	1.672000	0.50884	0.561000	0.74099	GCC		0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		157	449	0	0	0	1	0	157	449					A	100210030	G	A	100210030	3	1	79	1	0	0	0	0	1	0	0	0	358	1203	42	2	1631	2	AFF3	2	100210030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	100210030	142989343	2713	13030											
AFF3	3899	broad.mit.edu	37	chr2	100210308	100210308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggccgcgggctcctcGggccggtggcagttggcgcc	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000317233.4_Silent_p.P605P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000356421.2_Silent_p.P630P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	605					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1813-1815)ccC>ccT		AF4/FMR2 family, member 3							9	12	11					2																	100210308		2058	4079	6137	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210308G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1815C>T	2.37:g.100210308G>A						AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000409236.1_Silent_p.P605P|AFF3_ENST00000356421.2_Silent_p.P630P	p.P605P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2050	-			605					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1815C>T	CCDS42723.1																																																																																				0.751	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		54	128	0	0	0	1	0	54	128					A	100210308	G	A	100210308	2	1	79	1	0	0	0	0	0	0	0	1	358	1103	39	1		1	AFF3	2	100210308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	100210308	142989065	2714	13031											
AFF3	3899	broad.mit.edu	37	chr2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacctgtcagagagagcgCggagagccgttctctgagct	14	10	2	4	rs201587401		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000317233.4_Missense_Mutation_p.R390H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	390					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGAGCGCGGAGAGCCGT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.001		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1168-1170)cGc>cAc		AF4/FMR2 family, member 3							86	100	95					2																	100266103		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266103C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1169G>A	2.37:g.100266103C>T	ENSP00000387207:p.Arg390His					AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000409236.1_Missense_Mutation_p.R390H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H	p.R390H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			12	1404	-			390					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1169G>A	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198071	0.38806	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.07	3.05	0.35203	.	0.160493	0.29594	N	0.011704	T	0.53916	0.1826	L	0.36672	1.1	0.31696	N	0.641262	B;B;B	0.19583	0.037;0.004;0.003	B;B;B	0.15052	0.012;0.005;0.002	T	0.51482	-0.8700	10	0.41790	T	0.15	.	3.4607	0.07532	0.2012:0.5685:0.0:0.2302	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	390;415;415;390;390;543;415	ENSP00000317421:R390H;ENSP00000348793:R415H;ENSP00000386834:R415H;ENSP00000387207:R390H	ENSP00000317421:R390H	R	-	2	0	AFF3	99632535	0.918000	0.31147	0.991000	0.47740	0.900000	0.52787	1.550000	0.36223	0.319000	0.23209	0.650000	0.86243	CGC		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		92	442	0	0	0	1	0	92	442					T	100266103	C	T	100266103	3	4	79	1	0	0	0	0	1	0	0	0	358	768	27	1	2563	1	AFF3	2	100266103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55795	100266103	142933270	2715	13032											
AFF3	3899	broad.mit.edu	37	chr2	100453987	100453987	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttctccagatctactctcCtgaaagcaaagaaaaaaaaa	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCTACTCTCCTGAAAGCAAA	0.368																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e7-1		AF4/FMR2 family, member 3							63	66	65					2																	100453987		2202	4300	6502	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100453987C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.874-1G>T	2.37:g.100453987C>A						AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000409236.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site		NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			7	1109	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37		CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561482	0.65538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.787	0.57512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF3	99820419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.194000	0.58393	2.450000	0.82876	0.650000	0.86243	.		0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Intron	23	308	1	0	1.85244e-09	1	1.95034e-09	23	308					A	100453987	C	A	100453987	5	1	79	1	0	0	0	0	0	0	1	0	358	695	24	3	2879	3	AFF3	2	100453987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187884	100453987	142745386	2716	13033											
AFF3	3899	broad.mit.edu	37	chr2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaggaaccccaggttTgggaactccaacgagatgac	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000317233.4_Missense_Mutation_p.K97E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	97					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCCCAGGTTTGGGAACTCCA	0.438																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(289-291)Aaa>Gaa		AF4/FMR2 family, member 3							92	99	97					2																	100623808		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623808T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.289A>G	2.37:g.100623808T>C	ENSP00000387207:p.Lys97Glu					AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000409236.1_Missense_Mutation_p.K97E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E	p.K97E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	524	-			97					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.289A>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264756	0.80358	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.065008	0.64402	D	0.000017	T	0.71651	0.3365	L	0.28115	0.83	0.31583	N	0.654829	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.994;0.988	D;D;D;D;P	0.81914	0.965;0.941;0.995;0.926;0.852	T	0.74441	-0.3664	10	0.40728	T	0.16	.	15.3723	0.74573	0.0:0.0:0.0:1.0	.	251;251;97;97;122	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	E	97;122;122;97;97;251;122;97;97;97;97;97	ENSP00000317421:K97E;ENSP00000348793:K122E;ENSP00000386834:K122E;ENSP00000387207:K97E;ENSP00000406484:K97E;ENSP00000396582:K97E;ENSP00000399795:K97E;ENSP00000411383:K97E;ENSP00000395068:K97E	ENSP00000317421:K97E	K	-	1	0	AFF3	99990240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.043000	0.49823	2.085000	0.62840	0.477000	0.44152	AAA		0.438	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		124	365	0	0	0	1	0	124	365					C	100623808	T	C	100623808	3	2	79	1	0	0	0	0	1	0	0	0	358	1821	63	4	3471	4	AFF3	2	100623808	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169821	100623808	142575565	2717	13034											
LONRF2	164832	broad.mit.edu	37	chr2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcggcaagttcttcataCtctggaccctccacctgatc	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	645	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1933-1935)gaG>gaT		LON peptidase N-terminal domain and ring finger 2							90	67	75					2																	100903511		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903511C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1935G>T	2.37:g.100903511C>A	ENSP00000377086:p.Glu645Asp					LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	p.E645D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			11	2574	-			645			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1935G>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232343	0.09969	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-1.99;-2.14	4.95	1.78	0.24846	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.356504	0.31031	N	0.008395	T	0.77916	0.4202	L	0.35288	1.05	0.34150	D	0.667401	B	0.22541	0.071	B	0.29785	0.107	T	0.69030	-0.5253	10	0.14656	T	0.56	-6.4393	8.2426	0.31669	0.0:0.5979:0.1406:0.2615	.	645	Q1L5Z9	LONF2_HUMAN	D	645;402	ENSP00000377086:E645D;ENSP00000386823:E402D	ENSP00000377086:E645D	E	-	3	2	LONRF2	100269943	0.230000	0.23740	0.173000	0.22940	0.351000	0.29236	-0.455000	0.06762	0.390000	0.25115	0.655000	0.94253	GAG		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		49	167	1	0	4.21674e-32	1	4.97474e-32	49	167					A	100903511	C	A	100903511	3	1	79	1	0	0	0	0	1	0	0	0	8933	564	20	3	337	3	LONRF2	2	100903511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279703	100903511	142295862	2718	13035											
CHST10	9486	broad.mit.edu	37	chr2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacccagtgaatgatgtggtCcccaaactgaaggtctagcc	10	12	1	3	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	258			D -> N (in dbSNP:rs3748932).		carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(772-774)Gac>Aac		carbohydrate sulfotransferase 10							254	228	237					2																	101010006		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010006C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.772G>A	2.37:g.101010006C>T	ENSP00000264249:p.Asp258Asn					CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	p.D258N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1157	-			258		D -> N (in dbSNP:rs3748932).			Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.772G>A	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781912	0.96929	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	6.06	0.98353	.	0.084712	0.85682	D	0.000000	T	0.70859	0.3272	L	0.37750	1.13	0.80722	D	1	P	0.43231	0.801	B	0.43225	0.412	T	0.65668	-0.6112	10	0.23302	T	0.38	-38.744	20.6208	0.99490	0.0:1.0:0.0:0.0	rs3748932;rs3748932	258	O43529	CHSTA_HUMAN	N	258;306;258	ENSP00000264249:D258N;ENSP00000438869:D306N;ENSP00000387309:D258N	ENSP00000264249:D258N	D	-	1	0	CHST10	100376438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAC		0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		153	812	0	0	0	1	0	153	812					T	101010006	C	T	101010006	3	4	79	1	0	0	0	0	1	0	0	0	3407	855	30	2	302	2	CHST10	2	101010006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106495	101010006	142189367	2719	13036											
PDCL3	79031	broad.mit.edu	37	chr2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaagaagttaccaaagCtggcgagggcttgtgggtca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	109	Thioredoxin fold. {ECO:0000250}.				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)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(325-327)gCt>gTt		phosducin-like 3							102	99	100					2																	101186141		2203	4298	6501	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101186141C>T	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.326C>T	2.37:g.101186141C>T	ENSP00000264254:p.Ala109Val						p.A109V	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			4	704	+			109					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.326C>T	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892454	0.91889	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T;T	0.42513	0.97;0.97	4.77	4.77	0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.74639	-0.3598	10	0.72032	D	0.01	-21.0203	18.1468	0.89659	0.0:1.0:0.0:0.0	.	109	Q9H2J4	PDCL3_HUMAN	V	109;59	ENSP00000264254:A109V;ENSP00000413936:A59V	ENSP00000264254:A109V	A	+	2	0	PDCL3	100552573	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.469000	0.80959	2.347000	0.79759	0.555000	0.69702	GCT		0.428	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		42	509	0	0	0	1	0	42	509					T	101186141	C	T	101186141	3	4	79	1	0	0	0	0	1	0	0	0	11670	797	28	2	340	2	PDCL3	2	101186141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176135	101186141	142013232	2720	13037											
NPAS2	4862	broad.mit.edu	37	chr2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtttggcaaagggaagtCgtgttgctaccggtttctga	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	311	PAC.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)tCg>tTg		neuronal PAS domain protein 2							166	151	156					2																	101584767		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101584767C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.932C>T	2.37:g.101584767C>T	ENSP00000338283:p.Ser311Leu					NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	p.S311L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			11	1217	+			311			PAC.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.932C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599798	0.96614	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.24538	1.85;1.85	5.76	5.76	0.90799	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	376;311	F5H027;Q99743	.;NPAS2_HUMAN	L	311;376	ENSP00000338283:S311L;ENSP00000438428:S376L	ENSP00000338283:S311L	S	+	2	0	NPAS2	100951199	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.886000	0.69743	2.882000	0.98803	0.655000	0.94253	TCG		0.443	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			96	422	0	0	0	1	0	96	422					T	101584767	C	T	101584767	3	4	79	1	0	0	0	0	1	0	0	0	10605	893	31	1	970	1	NPAS2	2	101584767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	398626	101584767	141614606	2721	13038											
NPAS2	4862	broad.mit.edu	37	chr2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctggctctggaagAcccgccatccgaggccctcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	368					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)gAc>gGc		neuronal PAS domain protein 2							92	89	90					2																	101587499		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101587499A>G	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1103A>G	2.37:g.101587499A>G	ENSP00000338283:p.Asp368Gly					NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G	p.D368G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			12	1388	+			368					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1103A>G	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468956	0.84533	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05447	3.46;3.44	5.85	4.63	0.57726	.	0.146336	0.64402	D	0.000013	T	0.11452	0.0279	L	0.59436	1.845	0.46298	D	0.998977	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.01108	-1.1449	10	0.54805	T	0.06	.	11.9491	0.52944	0.87:0.0:0.0:0.13	.	433;368	F5H027;Q99743	.;NPAS2_HUMAN	G	368;433	ENSP00000338283:D368G;ENSP00000438428:D433G	ENSP00000338283:D368G	D	+	2	0	NPAS2	100953931	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.884000	0.63135	2.233000	0.73108	0.533000	0.62120	GAC		0.557	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			110	312	0	0	0	1	0	110	312					G	101587499	A	G	101587499	3	3	79	1	0	0	0	0	1	0	0	0	10605	275	10	4	1145	4	NPAS2	2	101587499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2732	101587499	141611874	2722	13039											
NPAS2	4862	broad.mit.edu	37	chr2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagctaatgcagagcagcGgccgctctggaagcagccta	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	624					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1870-1872)Ggc>Tgc		neuronal PAS domain protein 2							73	73	73					2																	101606760		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101606760G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1870G>T	2.37:g.101606760G>T	ENSP00000338283:p.Gly624Cys					NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	p.G624C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			18	2155	+			624					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1870G>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.160|8.160	0.789285|0.789285	0.16258|0.16258	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05025|.	3.53;3.51|.	4.66|4.66	-0.419|-0.419	0.12340|0.12340	.|.	1.028670|.	0.07683|.	N|.	0.937489|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.993|.	P;P|.	0.60415|.	0.874;0.672|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.38643|.	T|.	0.18|.	.|.	5.7997|5.7997	0.18408|0.18408	0.331:0.0:0.5374:0.1316|0.331:0.0:0.5374:0.1316	.|.	689;624|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	624;689|122	ENSP00000338283:G624C;ENSP00000438428:G689C|.	ENSP00000338283:G624C|.	G|R	+|+	1|2	0|0	NPAS2|NPAS2	100973192|100973192	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.028000|0.028000	0.11728|0.11728	-1.072000|-1.072000	0.03434|0.03434	-0.092000|-0.092000	0.12417|0.12417	-0.463000|-0.463000	0.05309|0.05309	GGC|CGG		0.572	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			122	424	1	0	3.19965e-69	1	4.05994e-69	122	424					T	101606760	G	T	101606760	3	4	79	1	0	0	0	0	1	0	0	0	10605	1116	39	3	1936	3	NPAS2	2	101606760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19261	101606760	141592613	2723	13040											
TBC1D8	11138	broad.mit.edu	37	chr2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcctgggagcagcttccaGagctgctgcctcgctgcccc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000376840.4	-	20	3109	c.3110C>A	c.(3109-3111)tCt>tAt	p.S1037Y	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1052Y			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1037					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(3154-3156)tCt>tAt		TBC1 domain family, member 8 (with GRAM domain)							26	30	29					2																	101624596		2048	4207	6255	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624596G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3110C>A	2.37:g.101624596G>T	ENSP00000366036:p.Ser1037Tyr					RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1037Y|RPL31_ENST00000409650.1_Intron	p.S1052Y	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			20	3285	-			1037					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3155C>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465430	0.63513	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03301	3.98;3.98	5.33	5.33	0.75918	.	0.128230	0.37136	N	0.002237	T	0.05410	0.0143	L	0.40543	1.245	0.32090	N	0.591968	P	0.49090	0.919	P	0.49708	0.62	T	0.01715	-1.1289	10	0.05351	T	0.99	-16.2886	12.818	0.57677	0.0849:0.0:0.9151:0.0	.	1037	O95759	TBCD8_HUMAN	Y	1037;1052	ENSP00000366036:S1037Y;ENSP00000386856:S1052Y	ENSP00000366036:S1037Y	S	-	2	0	TBC1D8	100991028	0.982000	0.34865	0.946000	0.38457	0.902000	0.53008	1.889000	0.39718	2.454000	0.82982	0.655000	0.94253	TCT		0.582	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		58	146	1	0	2.17126e-26	1	2.5019e-26	58	146					T	101624596	G	T	101624596	3	4	79	1	0	0	0	0	1	0	0	0	15677	942	33	3	316	3	TBC1D8	2	101624596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17836	101624596	141574777	2724	13041											
TBC1D8	11138	broad.mit.edu	37	chr2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcattttcttctggatctTcatggaacatactgtacaga	6	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000376840.4	-	20	3016	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.E1021G			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1006					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(3061-3063)gAa>gGa		TBC1 domain family, member 8 (with GRAM domain)							32	37	35					2																	101624689		2050	4217	6267	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624689T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3017A>G	2.37:g.101624689T>C	ENSP00000366036:p.Glu1006Gly					RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1006G|RPL31_ENST00000409650.1_Intron	p.E1021G	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			20	3192	-			1006					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3062A>G	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676379	0.29783	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.97;3.96	5.29	5.29	0.74685	.	0.090866	0.47455	D	0.000223	T	0.03477	0.0100	L	0.31804	0.96	0.23809	N	0.996785	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.31617	T	0.26	-12.8241	9.7618	0.40537	0.0:0.0771:0.0:0.9229	.	1006	O95759	TBCD8_HUMAN	G	1006;1021	ENSP00000366036:E1006G;ENSP00000386856:E1021G	ENSP00000366036:E1006G	E	-	2	0	TBC1D8	100991121	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.879000	0.48522	1.984000	0.57885	0.529000	0.55759	GAA		0.468	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		43	108	0	0	0	1	0	43	108					C	101624689	T	C	101624689	3	2	79	1	0	0	0	0	1	0	0	0	15677	1783	62	4	409	4	TBC1D8	2	101624689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93	101624689	141574684	2725	13042											
RNF149	284996	broad.mit.edu	37	chr2	101905443	101905443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaacatacttgcatggCagaattctaataatatcctt	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	285					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTTGCATGGCAGAATTCTAA	0.279																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(853-855)ctG>ctA		ring finger protein 149							77	82	80					2																	101905443		2202	4298	6500	SO:0001819	synonymous_variant	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101905443C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.855G>A	2.37:g.101905443C>T							p.L285L	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			4	962	-			285					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Silent	SNP	ENST00000295317.3	37	c.855G>A	CCDS2051.1																																																																																				0.279	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		12	189	0	0	0	1	0	12	189					T	101905443	C	T	101905443	2	4	79	1	0	0	0	0	0	0	0	1	13500	697	25	2		2	RNF149	2	101905443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280754	101905443	141293930	2726	13043											
IL1R2	7850	broad.mit.edu	37	chr2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgacacccacatagagaGcgcctacccgggaggccgcg	12	15	0	2	rs551509426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	283	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CACATAGAGAGCGCCTACCCG	0.582																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(847-849)aGc>aAc		interleukin 1 receptor, type II	Anakinra(DB00026)						62	58	59					2																	102641091		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641091G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.848G>A	2.37:g.102641091G>A	ENSP00000330959:p.Ser283Asn					IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR	p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1077	+			283			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.848G>A	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726765	0.15439	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.22945	1.93;1.93;1.93	5.86	-11.7	0.00046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.387270	0.00966	N	0.003179	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.16420	T	0.52	.	1.5337	0.02541	0.3941:0.2197:0.0787:0.3074	.	283	P27930	IL1R2_HUMAN	N	283	ENSP00000330959:S283N;ENSP00000377066:S283N;ENSP00000414611:S283N	ENSP00000330959:S283N	S	+	2	0	IL1R2	102007523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.162000	0.01277	-3.249000	0.00205	0.650000	0.86243	AGC		0.582	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		61	324	0	0	0	1	0	61	324					A	102641091	G	A	102641091	3	1	79	1	0	0	0	0	1	0	0	0	7689	971	34	2	870	2	IL1R2	2	102641091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735648	102641091	140558282	2727	13044											
IL1RL2	8808	broad.mit.edu	37	chr2	102818144	102818144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacactcagggaagcagtaCgaggttttaaatggcatcac	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	206	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(616-618)taC>taT		interleukin 1 receptor-like 2							133	108	117					2																	102818144		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102818144C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.618C>T	2.37:g.102818144C>T						IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000481806.1_3'UTR	p.Y206Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			5	744	+			206			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.618C>T	CCDS2056.1																																																																																				0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		34	186	0	0	0	1	0	34	186					T	102818144	C	T	102818144	2	4	79	1	0	0	0	0	0	0	0	1	7694	547	19	1		1	IL1RL2	2	102818144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177053	102818144	140381229	2728	13045											
IL18R1	8809	broad.mit.edu	37	chr2	103013310	103013310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcaagccaggtagagaCgaaccggaagtcttgcctgt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	530					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGTAGAGACGAACCGGAAG	0.423																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)gaC>gaT		interleukin 18 receptor 1							47	51	50					2																	103013310		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013310C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1590C>T	2.37:g.103013310C>T						IL18R1_ENST00000233957.1_Silent_p.D530D	p.D530D			Q13478	IL18R_HUMAN			12	1946	+			530					B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1590C>T	CCDS2060.1																																																																																				0.423	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		15	329	0	0	0	1	0	15	329					T	103013310	C	T	103013310	2	4	79	1	0	0	0	0	0	0	0	1	7677	535	19	1		1	IL18R1	2	103013310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195166	103013310	140186063	2729	13046											
IL18RAP	8807	broad.mit.edu	37	chr2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaactacaagcagcagTgaatcttgccttggatgatc	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000264260.2	+	12	2082	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	498	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGCAGCAGTGAATCTTGCC	0.393																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1492-1494)gTg>gCg		interleukin 18 receptor accessory protein							127	129	129					2																	103068334		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068334T>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1493T>C	2.37:g.103068334T>C	ENSP00000264260:p.Val498Ala					IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	p.V498A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2082	+			498			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1493T>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969215	0.74246	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09445	2.98;2.98	6.02	4.86	0.63082	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.097526	0.44688	N	0.000424	T	0.30947	0.0781	M	0.82056	2.57	0.34843	D	0.740879	D	0.64830	0.994	P	0.62298	0.9	T	0.49986	-0.8880	10	0.62326	D	0.03	.	11.8534	0.52423	0.0:0.0677:0.0:0.9323	.	498	O95256	I18RA_HUMAN	A	498;356	ENSP00000264260:V498A;ENSP00000387201:V356A	ENSP00000264260:V498A	V	+	2	0	IL18RAP	102434766	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.227000	0.58612	1.105000	0.41606	0.528000	0.53228	GTG		0.393	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		105	464	0	0	0	1	0	105	464					C	103068334	T	C	103068334	3	2	79	1	0	0	0	0	1	0	0	0	7678	1696	59	4	1531	4	IL18RAP	2	103068334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55024	103068334	140131039	2730	13047											
SLC9A4	389015	broad.mit.edu	37	chr2	103095444	103095444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatctacttcctgtatctcCtgccacccatcgttctggag	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103095444C>A	ENST00000295269.4	+	2	860	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	135					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)			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						CCTGTATCTCCTGCCACCCAT	0.612																																						ENST00000295269.4																			0				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						c.(403-405)Ctg>Atg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							70	65	67					2																	103095444		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095444C>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.403C>A	2.37:g.103095444C>A	ENSP00000295269:p.Leu135Met						p.L135M	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			2	860	+			135					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.403C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111165	0.77210	.	.	ENSG00000180251	ENST00000295269	T	0.25912	1.77	5.92	5.92	0.95590	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	H	0.94808	3.585	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	T	0.72187	-0.4366	10	0.87932	D	0	.	14.4691	0.67504	0.0:0.9302:0.0:0.0698	.	135	Q6AI14	SL9A4_HUMAN	M	135	ENSP00000295269:L135M	ENSP00000295269:L135M	L	+	1	2	SLC9A4	102461876	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.996000	0.57009	2.804000	0.96469	0.655000	0.94253	CTG		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		13	469	1	0	3.27435e-08	1	3.41456e-08	13	469					A	103095444	C	A	103095444	3	1	79	1	0	0	0	0	1	0	0	0	14766	680	24	3	409	3	SLC9A4	2	103095444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	103095444	140103929	2731	13048											
SLC9A4	389015	broad.mit.edu	37	chr2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctacaacaaatacaacCtcaaaccccaaacaagtgag	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					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)			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						CAAATACAACCTCAAACCCCA	0.488																																						ENST00000295269.4																			0				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						c.(1843-1845)Ctc>Atc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							192	206	201					2																	103141507		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141507C>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.1843C>A	2.37:g.103141507C>A	ENSP00000295269:p.Leu615Ile						p.L615I	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2300	+			615					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1843C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488560	0.44249	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	5.84	4.03	0.46877	.	0.268148	0.37530	N	0.002059	T	0.64238	0.2580	M	0.75264	2.295	0.32570	N	0.529854	D	0.63046	0.992	D	0.63703	0.917	T	0.74355	-0.3692	10	0.54805	T	0.06	.	12.1068	0.53818	0.0:0.8556:0.0:0.1444	.	615	Q6AI14	SL9A4_HUMAN	I	615	ENSP00000295269:L615I	ENSP00000295269:L615I	L	+	1	0	SLC9A4	102507939	1.000000	0.71417	0.956000	0.39512	0.001000	0.01503	3.026000	0.49689	1.481000	0.48307	-0.152000	0.13540	CTC		0.488	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		346	1056	1	0	9.08309e-95	1	1.16699e-94	346	1056					A	103141507	C	A	103141507	3	1	79	1	0	0	0	0	1	0	0	0	14766	681	24	3	1881	3	SLC9A4	2	103141507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46063	103141507	140057866	2732	13049											
SLC9A2	6549	broad.mit.edu	37	chr2	103281562	103281562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttcctgcaggtcCtgtacaacttgttcaagtcg	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103281562C>A	ENST00000233969.2	+	3	899	c.757C>A	c.(757-759)Ctg>Atg	p.L253M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	253					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTGCAGGTCCTGTACAACTT	0.443																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(757-759)Ctg>Atg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							176	168	171					2																	103281562		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103281562C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.757C>A	2.37:g.103281562C>A	ENSP00000233969:p.Leu253Met						p.L253M	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			3	899	+			253					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.757C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486589	0.63962	.	.	ENSG00000115616	ENST00000233969	T	0.21543	2.0	5.86	4.99	0.66335	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.76938	2.355	0.46927	D	0.999254	D	0.89917	1.0	D	0.87578	0.998	T	0.47947	-0.9077	10	0.62326	D	0.03	.	11.6148	0.51083	0.0:0.8635:0.0:0.1365	.	253	Q9UBY0	SL9A2_HUMAN	M	253	ENSP00000233969:L253M	ENSP00000233969:L253M	L	+	1	2	SLC9A2	102647994	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.978000	0.40598	1.627000	0.50400	0.650000	0.86243	CTG		0.443	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			14	1003	1	0	0.105934	1	0.106132	14	1003					A	103281562	C	A	103281562	3	1	79	1	0	0	0	0	1	0	0	0	14762	680	24	3	767	3	SLC9A2	2	103281562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140055	103281562	139917811	2733	13050											
SLC9A2	6549	broad.mit.edu	37	chr2	103300642	103300642	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggttccggaccattcccctGacctttaaggaccagttcat	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	424					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1270-1272)ctG>ctA		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							190	168	175					2																	103300642		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103300642G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1272G>A	2.37:g.103300642G>A							p.L424L	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			5	1414	+			424					B2RMS2	Silent	SNP	ENST00000233969.2	37	c.1272G>A	CCDS2062.1																																																																																				0.463	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			51	514	0	0	0	1	0	51	514					A	103300642	G	A	103300642	2	1	79	1	0	0	0	0	0	0	0	1	14762	1277	45	2		2	SLC9A2	2	103300642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19080	103300642	139898731	2734	13051											
MFSD9	84804	broad.mit.edu	37	chr2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggggccgagttcatgTcccagtgacccccaagctcc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	8					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(22-24)gAc>gGc		major facilitator superfamily domain containing 9							25	30	28					2																	103353247		2203	4299	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353247T>C		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.23A>G	2.37:g.103353247T>C	ENSP00000258436:p.Asp8Gly						p.D8G	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			1	66	-			8					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.23A>G	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235011	0.05983	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	4.24	-4.59	0.03400	.	1.454500	0.04609	N	0.399982	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.08381	T	0.77	-4.4032	3.5159	0.07725	0.4053:0.2354:0.0:0.3594	.	8	Q8NBP5	MFSD9_HUMAN	G	8	ENSP00000258436:D8G	ENSP00000258436:D8G	D	-	2	0	MFSD9	102719679	0.312000	0.24545	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.778000	0.04566	-1.589000	0.00846	GAC		0.721	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		27	288	0	0	0	1	0	27	288					C	103353247	T	C	103353247	3	2	79	1	0	0	0	0	1	0	0	0	9580	1667	58	4	1425	4	MFSD9	2	103353247	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52605	103353247	139846126	2735	13052											
TMEM182	130827	broad.mit.edu	37	chr2	103378707	103378707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcgctatcttctttggaGctctctttggtgctttgggg	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	ENST00000412401.2	+	1	236	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	11						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTTCTTTGGAGCTCTCTTTGG	0.368																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(31-33)Gct>Tct		transmembrane protein 182							142	134	137					2																	103378707		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103378707G>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.31G>T	2.37:g.103378707G>T	ENSP00000394178:p.Ala11Ser					TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	p.A11S	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			1	236	+			11					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.31G>T	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314998	0.81358	.	.	ENSG00000170417	ENST00000412401	T	0.55413	0.52	6.02	6.02	0.97574	.	0.045126	0.85682	D	0.000000	T	0.38878	0.1057	N	0.22421	0.69	0.30613	N	0.759332	P	0.37781	0.608	B	0.29862	0.108	T	0.51679	-0.8675	10	0.66056	D	0.02	-15.8891	16.7888	0.85582	0.0:0.0:0.8707:0.1293	.	11	Q6ZP80	TM182_HUMAN	S	11	ENSP00000394178:A11S	ENSP00000394178:A11S	A	+	1	0	TMEM182	102745139	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.570000	0.60872	2.865000	0.98341	0.655000	0.94253	GCT		0.368	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		76	327	1	0	5.7554e-21	1	6.47049e-21	76	327					T	103378707	G	T	103378707	3	4	79	1	0	0	0	0	1	0	0	0	16153	971	34	3	33	3	TMEM182	2	103378707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	103378707	139820666	2736	13053											
TMEM182	130827	broad.mit.edu	37	chr2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggtctccagtttaccGtggtttctgggcagtcctga	13	11	2	1	rs376008407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	113						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(337-339)cGt>cAt		transmembrane protein 182		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	88	92	91		338	5.2	1	2		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM182	NM_144632.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	113/230	103414328	3,13003	2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103414328G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.338G>A	2.37:g.103414328G>A	ENSP00000394178:p.Arg113His					TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	p.R113H	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			4	543	+			113					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.338G>A	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032092	0.93575	4.54E-4	1.16E-4	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.69040	-0.37;-0.37;-0.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83688	0.0175	10	0.87932	D	0	-17.6232	19.1731	0.93588	0.0:0.0:1.0:0.0	.	113;70	Q6ZP80;B8ZZ71	TM182_HUMAN;.	H	70;17;70;113	ENSP00000387258:R17H;ENSP00000387184:R70H;ENSP00000394178:R113H	ENSP00000387184:R70H	R	+	2	0	TMEM182	102780760	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	CGT		0.463	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		135	355	0	0	0	1	0	135	355					A	103414328	G	A	103414328	3	1	79	1	0	0	0	0	1	0	0	0	16153	1145	40	1	352	1	TMEM182	2	103414328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35621	103414328	139785045	2737	13054											
TMEM182	130827	broad.mit.edu	37	chr2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcatctgggtccagGcagtggctgacatggaaagc	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	173						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGGGTCCAGGCAGTGGCTGA	0.468																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(517-519)Gca>Aca		transmembrane protein 182							106	88	94					2																	103431254		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103431254G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.517G>A	2.37:g.103431254G>A	ENSP00000394178:p.Ala173Thr					TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T	p.A173T	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			5	722	+			173					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.517G>A	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925589	0.52759	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68479	-0.33;-0.33;-0.33	6.16	5.27	0.74061	.	0.229666	0.46145	D	0.000306	T	0.69424	0.3109	L	0.44542	1.39	0.42575	D	0.993199	P;P	0.41784	0.643;0.762	P;P	0.50378	0.639;0.639	T	0.67829	-0.5569	10	0.33141	T	0.24	-3.7239	15.7838	0.78286	0.0:0.1353:0.8647:0.0	.	173;130	Q6ZP80;B8ZZ71	TM182_HUMAN;.	T	77;130;173	ENSP00000387258:A77T;ENSP00000387184:A130T;ENSP00000394178:A173T	ENSP00000387184:A130T	A	+	1	0	TMEM182	102797686	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.473000	0.53122	1.583000	0.49898	0.650000	0.86243	GCA		0.468	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		43	135	0	0	0	1	0	43	135					A	103431254	G	A	103431254	3	1	79	1	0	0	0	0	1	0	0	0	16153	1203	42	2	535	2	TMEM182	2	103431254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16926	103431254	139768119	2738	13055											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915065	105915065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgaattcgtcatcgagCgctatgacgtatggaaagga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			1	Substitution - coding silent(1)	p.A262A(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(784-786)gcG>gcA		transforming growth factor, beta receptor associated protein 1							106	96	99					2																	105915065		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105915065C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.786G>A	2.37:g.105915065C>T						TGFBRAP1_ENST00000258449.1_Silent_p.A262A	p.A262A			Q8WUH2	TGFA1_HUMAN			3	1212	-			262			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.786G>A	CCDS2067.1																																																																																				0.542	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		126	351	0	0	0	1	0	126	351					T	105915065	C	T	105915065	2	4	79	1	0	0	0	0	0	0	0	1	15876	755	27	1		1	TGFBRAP1	2	105915065	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2483811	105915065	137284308	2739	13056											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgtccacagccacagCgaggggctgctcggcagtcg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	172	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(514-516)Gct>Act		transforming growth factor, beta receptor associated protein 1							113	114	113					2																	105924245		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924245C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.514G>A	2.37:g.105924245C>T	ENSP00000377027:p.Ala172Thr					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T	p.A172T			Q8WUH2	TGFA1_HUMAN			2	940	-			172			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.514G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952985	0.73902	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04406	3.63;3.63	5.32	5.32	0.75619	Citron-like (2);	0.053757	0.64402	D	0.000001	T	0.06554	0.0168	L	0.47716	1.5	0.80722	D	1	P	0.47841	0.901	B	0.40677	0.337	T	0.48801	-0.9003	10	0.10636	T	0.68	-20.6955	19.1899	0.93660	0.0:1.0:0.0:0.0	.	172	Q8WUH2	TGFA1_HUMAN	T	172	ENSP00000377027:A172T;ENSP00000258449:A172T	ENSP00000258449:A172T	A	-	1	0	TGFBRAP1	105290677	1.000000	0.71417	0.590000	0.28732	0.869000	0.49853	7.313000	0.78978	2.760000	0.94817	0.655000	0.94253	GCT		0.562	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		174	850	0	0	0	1	0	174	850					T	105924245	C	T	105924245	3	4	79	1	0	0	0	0	1	0	0	0	15876	768	27	1	2112	1	TGFBRAP1	2	105924245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9180	105924245	137275128	2740	13057											
FHL2	2274	broad.mit.edu	37	chr2	105977891	105977891	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtattttgtgccaccaagtCctgttaacagagagaaaata	8	7	0	2	rs568647217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409807.1	-	6	1023	c.689G>A	c.(688-690)gGa>gAa	p.G230E	FHL2_ENST00000393353.3_Splice_Site_p.G230E|FHL2_ENST00000393352.3_Splice_Site_p.G230E|FHL2_ENST00000358129.4_Splice_Site_p.G230E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000344213.4_Splice_Site_p.G340E|FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000409177.1_Splice_Site_p.G346E|FHL2_ENST00000408995.1_Splice_Site_p.G230E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	230	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.e6-1		four and a half LIM domains 2							86	75	79					2																	105977891		2203	4300	6503	SO:0001630	splice_region_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105977891C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.689-1G>A	2.37:g.105977891C>T						FHL2_ENST00000344213.4_Splice_Site_p.G340_splice|FHL2_ENST00000408995.1_Splice_Site_p.G230_splice|FHL2_ENST00000409807.1_Splice_Site_p.G230_splice|FHL2_ENST00000393352.3_Splice_Site_p.G230_splice|FHL2_ENST00000358129.4_Splice_Site_p.G230_splice|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393353.3_Splice_Site_p.G230_splice|FHL2_ENST00000322142.8_Splice_Site_p.G230_splice	p.G346_splice			Q14192	FHL2_HUMAN			6	1158	-			230					Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Splice_Site	SNP	ENST00000409807.1	37	c.1036_splice	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238043	0.95240	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T;T;T;T;T;T;T;T	0.61158	0.2;0.13;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.052402	0.85682	D	0.000000	T	0.74313	0.3700	L	0.60067	1.865	0.80722	D	1	P;P;D;P	0.76494	0.698;0.92;0.999;0.698	P;P;D;P	0.81914	0.58;0.742;0.995;0.58	T	0.76195	-0.3048	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	230;230;340;230	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	230;340;230;230;230;230;230;230	ENSP00000386892:G230E;ENSP00000344266:G340E;ENSP00000377021:G230E;ENSP00000377020:G230E;ENSP00000322909:G230E;ENSP00000350846:G230E;ENSP00000386665:G230E;ENSP00000386633:G230E	ENSP00000322909:G230E	G	-	2	0	FHL2	105344323	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	5.914000	0.69964	2.634000	0.89283	0.650000	0.86243	GGA		0.443	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1		Missense_Mutation	56	303	0	0	0	1	0	56	303					T	105977891	C	T	105977891	5	4	79	1	0	0	0	0	0	0	1	0	5904	869	30	2	154	2	FHL2	2	105977891	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53646	105977891	137221482	2741	13058											
NCK2	8440	broad.mit.edu	37	chr2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggactccatgaaagatgacaGaagaagttattgtgatagcc	11	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000427050.2_RNA|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	3	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(7-9)Gaa>Aaa		NCK adaptor protein 2							79	80	80					2																	106471526		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106471526G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.7G>A	2.37:g.106471526G>A	ENSP00000233154:p.Glu3Lys					NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K	p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			3	449	+			3			SH3 1.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.7G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565474	0.96527	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.73152	-0.72;1.72;1.47;1.72;1.46;-0.72	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.35854	1.095	0.80722	D	1	D;P	0.67145	0.996;0.944	P;P	0.60286	0.872;0.581	T	0.78897	-0.2023	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	3;3	E7ERP6;O43639	.;NCK2_HUMAN	K	3	ENSP00000233154:E3K;ENSP00000410428:E3K;ENSP00000377017:E3K;ENSP00000431109:E3K;ENSP00000408040:E3K;ENSP00000377018:E3K	ENSP00000233154:E3K	E	+	1	0	NCK2	105837958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAA		0.483	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		34	202	0	0	0	1	0	34	202					A	106471526	G	A	106471526	3	1	79	1	0	0	0	0	1	0	0	0	10262	943	33	2	9	2	NCK2	2	106471526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493635	106471526	136727847	2742	13059											
NCK2	8440	broad.mit.edu	37	chr2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcaccaggccgagtgcGccctcaacgagcggggcgtg	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	298	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(892-894)Gcc>Acc		NCK adaptor protein 2							23	26	25					2																	106498449		2203	4294	6497	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498449G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.892G>A	2.37:g.106498449G>A	ENSP00000233154:p.Ala298Thr					NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T	p.A298T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	1334	+			298			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.892G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147208	0.57151	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	SH2 motif (5);	0.158749	0.53938	D	0.000046	T	0.58293	0.2112	L	0.37507	1.11	0.80722	D	1	P	0.39060	0.657	B	0.39840	0.311	T	0.61143	-0.7122	10	0.52906	T	0.07	-20.2399	19.4433	0.94836	0.0:0.0:1.0:0.0	.	298	O43639	NCK2_HUMAN	T	298	ENSP00000233154:A298T;ENSP00000377018:A298T	ENSP00000233154:A298T	A	+	1	0	NCK2	105864881	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.867000	0.63013	2.681000	0.91329	0.462000	0.41574	GCC		0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		24	223	0	0	0	1	0	24	223					A	106498449	G	A	106498449	3	1	79	1	0	0	0	0	1	0	0	0	10262	1087	38	1	898	1	NCK2	2	106498449	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26923	106498449	136700924	2743	13060											
NCK2	8440	broad.mit.edu	37	chr2	106509467	106509467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgtgtcccttaaagcGtcagggaagaacaaacactt	8	11	2	1	rs372072439		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	326	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14992	0.0		0.0	False		,,,				2504	0.0					ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(976-978)gcG>gcA		NCK adaptor protein 2		G	,,	0,4406		0,0,2203	96	85	88		978,,978	-3.8	0.9	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	326/381,,326/381	106509467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106509467G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.978G>A	2.37:g.106509467G>A						NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			5	1420	+			326			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.978G>A	CCDS33266.1																																																																																				0.557	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		86	233	0	0	0	1	0	86	233					A	106509467	G	A	106509467	2	1	79	1	0	0	0	0	0	0	0	1	10262	1132	40	1		1	NCK2	2	106509467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11018	106509467	136689906	2744	13061											
C2orf40	84417	broad.mit.edu	37	chr2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaactaagactaaagtggCcgttgatgagaataaagcca	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000238044.3	+	3	264	c.155C>T	c.(154-156)gCc>gTc	p.A52V	C2orf40_ENST00000409944.1_Missense_Mutation_p.A16V|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(46-48)gCc>gTc		chromosome 2 open reading frame 40							128	142	137					2																	106690369		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106690369C>T	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.155C>T	2.37:g.106690369C>T	ENSP00000238044:p.Ala52Val					C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.A52V	p.A16V			Q9H1Z8	AUGN_HUMAN			4	278	+			52					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.47C>T	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591305	0.46214	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.54479	0.57;0.57;0.57	5.62	5.62	0.85841	.	0.116585	0.64402	D	0.000016	T	0.62036	0.2395	L	0.51422	1.61	0.40866	D	0.983874	P	0.49559	0.925	P	0.52159	0.691	T	0.63042	-0.6725	10	0.52906	T	0.07	-18.6853	19.6614	0.95875	0.0:1.0:0.0:0.0	.	52	Q9H1Z8	AUGN_HUMAN	V	16;52;54	ENSP00000386421:A16V;ENSP00000238044:A52V;ENSP00000388664:A54V	ENSP00000238044:A52V	A	+	2	0	C2orf40	106056801	0.991000	0.36638	0.932000	0.37286	0.105000	0.19272	3.048000	0.49862	2.633000	0.89246	0.655000	0.94253	GCC		0.522	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		142	839	0	0	0	1	0	142	839					T	106690369	C	T	106690369	3	4	79	1	0	0	0	0	1	0	0	0	2172	739	26	2	165	2	C2orf40	2	106690369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180902	106690369	136509004	2745	13062											
C2orf40	84417	broad.mit.edu	37	chr2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcgattactaccaacGtcactatgatgaagactctg	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000238044.3	+	4	471	c.362G>A	c.(361-363)cGt>cAt	p.R121H	C2orf40_ENST00000409944.1_Missense_Mutation_p.R85H	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	121					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(253-255)cGt>cAt		chromosome 2 open reading frame 40							162	141	148					2																	106694297		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106694297G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.362G>A	2.37:g.106694297G>A	ENSP00000238044:p.Arg121His					C2orf40_ENST00000238044.3_Missense_Mutation_p.R121H	p.R85H			Q9H1Z8	AUGN_HUMAN			5	485	+			121					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.254G>A	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	G	4.996	0.184997	0.09495	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.39997	1.05;1.05;1.05	5.31	4.44	0.53790	.	0.055536	0.64402	D	0.000001	T	0.21227	0.0511	N	0.16656	0.425	0.35120	D	0.76693	B	0.14012	0.009	B	0.13407	0.009	T	0.17992	-1.0351	10	0.07813	T	0.8	-8.5573	6.519	0.22264	0.3126:0.0:0.6874:0.0	.	121	Q9H1Z8	AUGN_HUMAN	H	85;121;123	ENSP00000386421:R85H;ENSP00000238044:R121H;ENSP00000388664:R123H	ENSP00000238044:R121H	R	+	2	0	C2orf40	106060729	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.886000	0.56190	1.231000	0.43661	0.591000	0.81541	CGT		0.453	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		108	312	0	0	0	1	0	108	312					A	106694297	G	A	106694297	3	1	79	1	0	0	0	0	1	0	0	0	2172	1145	40	1	376	1	C2orf40	2	106694297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3928	106694297	136505076	2746	13063											
UXS1	80146	broad.mit.edu	37	chr2	106739525	106739525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggccccagtaatcctcActttgagggtggacttcagg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000409501.3	-	9	702	c.645T>C	c.(643-645)agT>agC	p.S215S	UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000283148.7_Silent_p.S220S|UXS1_ENST00000409032.1_Silent_p.S47S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	215					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(658-660)agT>agC		UDP-glucuronate decarboxylase 1							121	119	120					2																	106739525		1939	4131	6070	SO:0001819	synonymous_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106739525A>G	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.645T>C	2.37:g.106739525A>G						UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000409501.3_Silent_p.S215S|UXS1_ENST00000409032.1_Silent_p.S47S	p.S220S	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			9	757	-			215					Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	c.660T>C	CCDS46378.1																																																																																				0.453	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		73	339	0	0	0	1	0	73	339					G	106739525	A	G	106739525	2	3	79	1	0	0	0	0	0	0	0	1	17163	156	6	4		4	UXS1	2	106739525	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45228	106739525	136459848	2747	13064											
UXS1	80146	broad.mit.edu	37	chr2	106781241	106781241	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccattttcctggatagacCtgttgagtagaaagctataa	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000409501.3	-	3	180		c.e3-1		UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.R46M			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGGATAGACCTGTTGAGTAG	0.328																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(136-138)aGg>aTg		UDP-glucuronate decarboxylase 1							76	74	75					2																	106781241		1836	4072	5908	SO:0001630	splice_region_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106781241C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.123-1G>T	2.37:g.106781241C>A						UXS1_ENST00000540130.1_Intron|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000409501.3_Splice_Site	p.R46M	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			3	234	-			41					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.137G>T	CCDS46378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.74|19.74	3.883523|3.883523	0.72410|0.72410	.|.	.|.	ENSG00000115652|ENSG00000115652	ENST00000409501|ENST00000283148	.|D	.|0.96396	.|-4.0	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94941	.|0.8364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36315	.|0.547	.|B	.|0.37346	.|0.247	.|D	.|0.94890	.|0.8047	.|9	.|0.62326	.|D	.|0.03	.|-12.3826	16.61|16.61	0.84880|0.84880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|46	.|Q8NBZ7-2	.|.	.|M	-1|46	.|ENSP00000283148:R46M	.|ENSP00000283148:R46M	.|R	-|-	.|2	.|0	UXS1|UXS1	106147673|106147673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.292000|5.292000	0.65673|0.65673	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	.|AGG		0.328	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	Intron	8	31	1	0	0.000442599	1	0.000448314	8	31					A	106781241	C	A	106781241	5	1	79	1	0	0	0	0	0	0	1	0	17163	695	24	3	1192	3	UXS1	2	106781241	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41716	106781241	136418132	2748	13065											
RGPD3	653489	broad.mit.edu	37	chr2	107040250	107040250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagtatacgaacgtgCttattatcataattctgtaa	5	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040250C>T	ENST00000409886.3	-	20	4260	c.4173G>A	c.(4171-4173)aaG>aaA	p.K1391K	RGPD3_ENST00000304514.7_Silent_p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1391	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACGAACGTGCTTATTATCAT	0.353																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4171-4173)aaG>aaA		RANBP2-like and GRIP domain containing 3							137	104	114					2																	107040250		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040250C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4173G>A	2.37:g.107040250C>T						RGPD3_ENST00000304514.7_Silent_p.K1391K	p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	4260	-			1391			RanBD1 2.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.4173G>A	CCDS46379.1																																																																																				0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		424	1180	0	0	0	1	0	424	1180					T	107040250	C	T	107040250	2	4	79	1	0	0	0	0	0	0	0	1	13337	796	28	2		2	RGPD3	2	107040250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259009	107040250	136159123	2749	13066											
RGPD3	653489	broad.mit.edu	37	chr2	107040937	107040937	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgctggcattcctcaaatttCtgcttgaattcttcagccag	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040937C>T	ENST00000409886.3	-	20	3573	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	RGPD3_ENST00000304514.7_Silent_p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1162	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3484-3486)caG>caA		RANBP2-like and GRIP domain containing 3							2	2	2					2																	107040937		502	1160	1662	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040937C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3486G>A	2.37:g.107040937C>T						RGPD3_ENST00000304514.7_Silent_p.Q1162Q	p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3573	-			1162			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3486G>A	CCDS46379.1																																																																																				0.448	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		114	548	0	0	0	1	0	114	548					T	107040937	C	T	107040937	2	4	79	1	0	0	0	0	0	0	0	1	13337	912	32	2		2	RGPD3	2	107040937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	107040937	136158436	2750	13067											
RGPD3	653489	broad.mit.edu	37	chr2	107041054	107041054	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgctctatctgatccagaGaggggcttcaggttcattgt	11	9	4	2	rs532259308	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041054G>T	ENST00000409886.3	-	20	3456	c.3369C>A	c.(3367-3369)ctC>ctA	p.L1123L	RGPD3_ENST00000304514.7_Silent_p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1123	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCCAGAGAGGGGCTTCA	0.438																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3367-3369)ctC>ctA		RANBP2-like and GRIP domain containing 3							2	2	2					2																	107041054		586	1330	1916	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107041054G>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3369C>A	2.37:g.107041054G>T						RGPD3_ENST00000304514.7_Silent_p.L1123L	p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3456	-			1123			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3369C>A	CCDS46379.1																																																																																				0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		40	1267	1	0	1.2476e-16	1	1.37204e-16	40	1267					T	107041054	G	T	107041054	2	4	79	1	0	0	0	0	0	0	0	1	13337	929	33	3		3	RGPD3	2	107041054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	107041054	136158319	2751	13068											
RGPD4	285190	broad.mit.edu	37	chr2	108488674	108488674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggaccaagtattaaaacTttgtgccaatcacacaataa	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108488674T>G	ENST00000408999.3	+	20	4291	c.4214T>G	c.(4213-4215)cTt>cGt	p.L1405R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1405R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1405	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTATTAAAACTTTGTGCCAAT	0.373																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4213-4215)cTt>cGt		RANBP2-like and GRIP domain containing 4							33	24	26					2																	108488674		691	1569	2260	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488674T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4214T>G	2.37:g.108488674T>G	ENSP00000386810:p.Leu1405Arg					RGPD4_ENST00000354986.4_Missense_Mutation_p.L1405R	p.L1405R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4291	+			1405			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4214T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.39	1.623425	0.28889	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.49720	0.77;0.77	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.64681	0.2620	M	0.88775	2.98	0.34639	D	0.720444	P	0.50272	0.933	P	0.55545	0.778	T	0.76052	-0.3100	9	0.72032	D	0.01	-29.0261	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1405	Q7Z3J3	RGPD4_HUMAN	R	1405	ENSP00000347081:L1405R;ENSP00000386810:L1405R	ENSP00000347081:L1405R	L	+	2	0	RGPD4	107855106	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	7.779000	0.85648	1.072000	0.40860	0.136000	0.15936	CTT		0.373	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		39	1845	0	0	0	1	0	39	1845					G	108488674	T	G	108488674	3	3	79	1	0	0	0	0	1	0	0	0	13338	1609	56	4	4292	4	RGPD4	2	108488674	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1447620	108488674	134710699	2752	13069											
SLC5A7	60482	broad.mit.edu	37	chr2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgaccatgttagaccCgtttcagcaaatctatggaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	117					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(349-351)cCg>cTg		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						148	148	148					2																	108609485		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609485C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.350C>T	2.37:g.108609485C>T	ENSP00000264047:p.Pro117Leu					SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	p.P117L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			4	626	+			117					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.350C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509118	0.96386	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86030	-2.06;-2.06;-2.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93150	0.6549	10	0.34782	T	0.22	-2.5788	20.8598	0.99761	0.0:1.0:0.0:0.0	.	117	Q9GZV3	SC5A7_HUMAN	L	117;12;117	ENSP00000387346:P117L;ENSP00000445351:P12L;ENSP00000264047:P117L	ENSP00000264047:P117L	P	+	2	0	SLC5A7	107975917	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG		0.423	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			182	506	0	0	0	1	0	182	506					T	108609485	C	T	108609485	3	4	79	1	0	0	0	0	1	0	0	0	14720	652	23	1	360	1	SLC5A7	2	108609485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120811	108609485	134589888	2753	13070											
SLC5A7	60482	broad.mit.edu	37	chr2	108609533	108609533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggactcctgtttattcCtgcactgatgggagaaatgt	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609533C>T	ENST00000264047.2	+	4	674	c.398C>T	c.(397-399)cCt>cTt	p.P133L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	133					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGTTTATTCCTGCACTGATG	0.443																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(397-399)cCt>cTt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						129	117	121					2																	108609533		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609533C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.398C>T	2.37:g.108609533C>T	ENSP00000264047:p.Pro133Leu					SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	p.P133L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			4	674	+			133					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.398C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120112	0.94385	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87650	-2.28;-2.28;-2.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.93309	0.6683	10	0.36615	T	0.2	-21.9717	20.6397	0.99537	0.0:1.0:0.0:0.0	.	133	Q9GZV3	SC5A7_HUMAN	L	133;28;133	ENSP00000387346:P133L;ENSP00000445351:P28L;ENSP00000264047:P133L	ENSP00000264047:P133L	P	+	2	0	SLC5A7	107975965	1.000000	0.71417	0.985000	0.45067	0.692000	0.40212	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CCT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			81	383	0	0	0	1	0	81	383					T	108609533	C	T	108609533	3	4	79	1	0	0	0	0	1	0	0	0	14720	681	24	2	408	2	SLC5A7	2	108609533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	108609533	134589840	2754	13071											
SLC5A7	60482	broad.mit.edu	37	chr2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagccatactcattggggCcattggagcatcaacaggta	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	293					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(877-879)gCc>gAc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						101	94	96					2																	108622641		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108622641C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.878C>A	2.37:g.108622641C>A	ENSP00000264047:p.Ala293Asp					SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	p.A293D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			7	1154	+			293					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.878C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023063	0.75275	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95437	0.8522	10	0.45353	T	0.12	-21.0254	19.8703	0.96847	0.0:1.0:0.0:0.0	.	293	Q9GZV3	SC5A7_HUMAN	D	293;188;293	ENSP00000387346:A293D;ENSP00000445351:A188D;ENSP00000264047:A293D	ENSP00000264047:A293D	A	+	2	0	SLC5A7	107989073	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	GCC		0.537	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			36	477	1	0	2.6416e-12	1	2.83477e-12	36	477					A	108622641	C	A	108622641	3	1	79	1	0	0	0	0	1	0	0	0	14720	739	26	3	900	3	SLC5A7	2	108622641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13108	108622641	134576732	2755	13072											
SLC5A7	60482	broad.mit.edu	37	chr2	108626966	108626966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgatcttctaccctggCtattaccctgatgataatgg	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	464					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1390-1392)ggC>ggT		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						110	108	108					2																	108626966		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626966C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1392C>T	2.37:g.108626966C>T						SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	p.G464G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1668	+			464					Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1392C>T	CCDS2074.1																																																																																				0.418	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			73	421	0	0	0	1	0	73	421					T	108626966	C	T	108626966	2	4	79	1	0	0	0	0	0	0	0	1	14720	784	28	2		2	SLC5A7	2	108626966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	108626966	134572407	2756	13073											
SULT1C4	27233	broad.mit.edu	37	chr2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaccacggatcctgaAaacacatcttccctttcact	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	113	Substrate binding. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388																																						ENST00000272452.2																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(337-339)aAa>aGa		sulfotransferase family, cytosolic, 1C, member 4							255	240	245					2																	108998883		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998883A>G	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.338A>G	2.37:g.108998883A>G	ENSP00000272452:p.Lys113Arg					SULT1C4_ENST00000409309.3_Intron	p.K113R	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN			3	664	+			113					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.338A>G	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630609	0.87660	.	.	ENSG00000198075	ENST00000272452	T	0.02763	4.17	4.44	4.44	0.53790	Sulfotransferase domain (1);	0.000000	0.53938	D	0.000055	T	0.10766	0.0263	M	0.76938	2.355	0.80722	D	1	P	0.47191	0.891	P	0.53988	0.739	T	0.01039	-1.1472	10	0.49607	T	0.09	.	13.3112	0.60380	1.0:0.0:0.0:0.0	.	113	O75897	ST1C4_HUMAN	R	113	ENSP00000272452:K113R	ENSP00000272452:K113R	K	+	2	0	SULT1C4	108365315	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.839000	0.62810	1.986000	0.57962	0.496000	0.49642	AAA		0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		235	1090	0	0	0	1	0	235	1090					G	108998883	A	G	108998883	3	3	79	1	0	0	0	0	1	0	0	0	15431	14	1	4	348	4	SULT1C4	2	108998883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371917	108998883	134200490	2757	13074											
GCC2	9648	broad.mit.edu	37	chr2	109088536	109088536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactactagaacaaaaagaAttacgagataggagagcaga	9	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	917					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2749-2751)gaA>gaG		GRIP and coiled-coil domain containing 2							40	44	43					2																	109088536		2157	4260	6417	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088536A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2751A>G	2.37:g.109088536A>G							p.E917E	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	3465	+			917					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.2751A>G	CCDS33268.1																																																																																				0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		71	236	0	0	0	1	0	71	236					G	109088536	A	G	109088536	2	3	79	1	0	0	0	0	0	0	0	1	6314	98	4	4		4	GCC2	2	109088536	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89653	109088536	134110837	2758	13075											
RANBP2	5903	broad.mit.edu	37	chr2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcagagaggaacataGctttgcgttcaagtttagaa	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	196					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGAACATAGCTTTGCGTTC	0.433																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(586-588)Gct>Tct		RAN binding protein 2							225	257	245					2																	109352168		1355	2296	3651	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352168G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.586G>T	2.37:g.109352168G>T	ENSP00000283195:p.Ala196Ser						p.A196S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			5	712	+			196					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.586G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974458	0.53720	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.0	5.0	0.66597	.	.	.	.	.	T	0.30262	0.0759	M	0.61703	1.905	0.23661	N	0.997177	B	0.21381	0.055	B	0.18561	0.022	T	0.12656	-1.0539	9	0.21014	T	0.42	-13.8792	10.8541	0.46789	0.0:0.1481:0.7165:0.1353	.	196	P49792	RBP2_HUMAN	S	196	ENSP00000283195:A196S	ENSP00000283195:A196S	A	+	1	0	RANBP2	108718600	0.001000	0.12720	0.925000	0.36789	0.967000	0.64934	0.027000	0.13621	2.498000	0.84270	0.455000	0.32223	GCT		0.433	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		460	1215	1	0	1.39281e-119	1	1.79332e-119	460	1215					T	109352168	G	T	109352168	3	4	79	1	0	0	0	0	1	0	0	0	13078	971	34	3	604	3	RANBP2	2	109352168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263632	109352168	133847205	2759	13076											
RANBP2	5903	broad.mit.edu	37	chr2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctttacctggaatcCgaaaatggctaaaacagctt	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGGAATCCGAAAATGGCT	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1360-1362)Cga>Tga		RAN binding protein 2							45	51	49					2																	109367806		1508	2702	4210	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367806C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1360C>T	2.37:g.109367806C>T	ENSP00000283195:p.Arg454*						p.R454*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1486	+			454					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.1360C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	38	7.129996	0.98085	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3898	15.8284	0.78733	0.0:0.8639:0.1361:0.0	.	.	.	.	X	454	.	ENSP00000283195:R454X	R	+	1	2	RANBP2	108734238	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.491000	0.45303	1.211000	0.43351	0.650000	0.86243	CGA		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		196	597	0	0	0	1	0	196	597					T	109367806	C	T	109367806	4	4	79	1	0	0	0	0	0	1	0	0	13078	644	23	1	1398	1	RANBP2	2	109367806	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15638	109367806	133831567	2760	13077											
RANBP2	5903	broad.mit.edu	37	chr2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatatgtttactttccatgGtccagggaaatcagtatttg	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACTTTCCATGGTCCAGGGAAA	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3406-3408)gGt>gAt		RAN binding protein 2							84	85	85					2																	109380402		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380402G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3407G>A	2.37:g.109380402G>A	ENSP00000283195:p.Gly1136Asp						p.G1136D	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3533	+			1136					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3407G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442717	0.25987	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.44	4.55	0.56014	.	.	.	.	.	T	0.24160	0.0585	L	0.38953	1.18	0.19775	N	0.999955	B	0.10296	0.003	B	0.08055	0.003	T	0.05131	-1.0904	9	0.48119	T	0.1	-13.12	8.3245	0.32149	0.1773:0.0:0.8227:0.0	.	1136	P49792	RBP2_HUMAN	D	1136	ENSP00000283195:G1136D	ENSP00000283195:G1136D	G	+	2	0	RANBP2	108746834	0.832000	0.29368	0.996000	0.52242	0.199000	0.23934	3.153000	0.50685	2.537000	0.85549	0.557000	0.71058	GGT		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		116	560	0	0	0	1	0	116	560					A	109380402	G	A	109380402	3	1	79	1	0	0	0	0	1	0	0	0	13078	1261	44	2	3485	2	RANBP2	2	109380402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12596	109380402	133818971	2761	13078											
RANBP2	5903	broad.mit.edu	37	chr2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagaatgctgatgcgaagaGaacaagtactaaaagtgtgt	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2078	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGCGAAGAGAACAAGTACT	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6232-6234)Gaa>Taa		RAN binding protein 2							202	218	213					2																	109383227		2202	4291	6493	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383227G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6232G>T	2.37:g.109383227G>T	ENSP00000283195:p.Glu2078*						p.E2078*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6358	+			2078			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.6232G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.207144	0.99727	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.982	19.718	0.96131	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;2078	.	ENSP00000283195:E2078X	E	+	1	0	RANBP2	108749659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.653000	0.90120	0.557000	0.71058	GAA		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		507	1411	1	0	8.83186e-137	1	1.1375e-136	507	1411					T	109383227	G	T	109383227	4	4	79	1	0	0	0	0	0	1	0	0	13078	943	33	3	6310	3	RANBP2	2	109383227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2825	109383227	133816146	2762	13079											
RANBP2	5903	broad.mit.edu	37	chr2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagttgaagagaaggcaAaagcagatacgttaaaactt	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAGAAGGCAAAAGCAGATAC	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(8173-8175)Aaa>Caa		RAN binding protein 2							97	90	92					2																	109389383		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109389383A>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8173A>C	2.37:g.109389383A>C	ENSP00000283195:p.Lys2725Gln						p.K2725Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			23	8299	+			2725			2 X 50 AA approximate repeats.|Interaction with SUMO1.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8173A>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213182	0.79352	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31769	1.48	5.98	5.98	0.97165	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.29061	0.0722	N	0.24115	0.695	0.25469	N	0.987849	D	0.54772	0.968	P	0.50934	0.654	T	0.11717	-1.0576	9	0.23302	T	0.38	-28.6269	11.4836	0.50339	0.9287:0.0:0.0713:0.0	.	2725	P49792	RBP2_HUMAN	Q	1749;2725	ENSP00000283195:K2725Q	ENSP00000283195:K2725Q	K	+	1	0	RANBP2	108755815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.793000	0.62474	2.289000	0.77006	0.482000	0.46254	AAA		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		19	195	0	0	0	1	0	19	195					C	109389383	A	C	109389383	3	2	79	1	0	0	0	0	1	0	0	0	13078	15	1	4	8263	4	RANBP2	2	109389383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6156	109389383	133809990	2763	13080											
CCDC138	165055	broad.mit.edu	37	chr2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttttggagtatcaggCtgttccagtaatattaagtc	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1600-1602)gCt>gAt		coiled-coil domain containing 138							155	160	158					2																	109473334		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109473334C>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1601C>A	2.37:g.109473334C>A	ENSP00000295124:p.Ala534Asp					CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			13	1661	+			534					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.1601C>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735870	0.69189	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.46451	0.87;0.92	5.52	5.52	0.82312	.	0.137949	0.47852	D	0.000207	T	0.64136	0.2571	M	0.69823	2.125	0.40120	D	0.976589	D;D	0.89917	0.992;1.0	P;D	0.76575	0.9;0.988	T	0.67971	-0.5532	10	0.87932	D	0	-11.4975	15.6841	0.77396	0.0:0.8627:0.1373:0.0	.	534;534	Q96M89-2;Q96M89	.;CC138_HUMAN	D	534	ENSP00000411800:A534D;ENSP00000295124:A534D	ENSP00000295124:A534D	A	+	2	0	CCDC138	108839766	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	3.941000	0.56607	2.605000	0.88082	0.591000	0.81541	GCT		0.373	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		182	510	1	0	2.56026e-83	1	3.27821e-83	182	510					A	109473334	C	A	109473334	3	1	79	1	0	0	0	0	1	0	0	0	2779	797	28	3	1651	3	CCDC138	2	109473334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83951	109473334	133726039	2764	13081											
EDAR	10913	broad.mit.edu	37	chr2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcatcactgtcgacgCtccggctcagcagctgctca	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000258443.2	-	10	1278	c.848G>T	c.(847-849)aGc>aTc	p.S283I	EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000409271.1_Missense_Mutation_p.S315I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	283					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(943-945)aGc>aTc		ectodysplasin A receptor							37	39	38					2																	109524431		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109524431C>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.848G>T	2.37:g.109524431C>A	ENSP00000258443:p.Ser283Ile					EDAR_ENST00000258443.2_Missense_Mutation_p.S283I|EDAR_ENST00000376651.1_Missense_Mutation_p.S315I	p.S315I			Q9UNE0	EDAR_HUMAN			10	1387	-			283					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.944G>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641763	0.67244	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94650	-3.48;-3.29;-3.48	5.64	5.64	0.86602	.	0.114476	0.85682	D	0.000000	D	0.97185	0.9080	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.97461	1.0034	10	0.87932	D	0	-30.4742	19.7084	0.96083	0.0:1.0:0.0:0.0	.	315;283	E9PC98;Q9UNE0	.;EDAR_HUMAN	I	315;283;315	ENSP00000386371:S315I;ENSP00000258443:S283I;ENSP00000365839:S315I	ENSP00000258443:S283I	S	-	2	0	EDAR	108890863	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	7.209000	0.77916	2.648000	0.89879	0.561000	0.74099	AGC		0.632	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			81	188	1	0	3.1711e-36	1	3.79393e-36	81	188					A	109524431	C	A	109524431	3	1	79	1	0	0	0	0	1	0	0	0	4921	797	28	3	510	3	EDAR	2	109524431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51097	109524431	133674942	2765	13082											
SH3RF3	344558	broad.mit.edu	37	chr2	109964294	109964294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttcctcccagccagCtatatccagtgcatccagcc	8	17	0	0	rs370737025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	246	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(736-738)agC>agT		SH3 domain containing ring finger 3							50	57	55					2																	109964294		2134	4237	6371	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:109964294C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.738C>T	2.37:g.109964294C>T							p.S246S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			2	738	+			246			SH3 1.		A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.738C>T																																																																																					0.562	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		47	108	0	0	0	1	0	47	108					T	109964294	C	T	109964294	2	4	79	1	0	0	0	0	0	0	0	1	14310	796	28	2		2	SH3RF3	2	109964294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439863	109964294	133235079	2766	13083											
SH3RF3	344558	broad.mit.edu	37	chr2	110036048	110036048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccacgggctgcctcGgtgtctggagagcagggcac	16	13	1	1	rs373793838		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110036048G>A	ENST00000309415.6	+	5	1353	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	451							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTGCCTCGGTGTCTGGAG	0.642																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1351-1353)tcG>tcA		SH3 domain containing ring finger 3							30	35	33					2																	110036048		2055	4205	6260	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036048G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1353G>A	2.37:g.110036048G>A							p.S451S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			5	1353	+			451					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1353G>A																																																																																					0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		4	43	0	0	0	1	0	4	43					A	110036048	G	A	110036048	2	1	79	1	0	0	0	0	0	0	0	1	14310	1103	39	1		1	SH3RF3	2	110036048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71754	110036048	133163325	2767	13084											
SH3RF3	344558	broad.mit.edu	37	chr2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccgtgtcacccctgcGcacccagaactctccatccc	6	21	2	1	rs199983346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	629							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13955	0.0		0.001	False		,,,				2504	0.0					ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1885-1887)cGc>cAc		SH3 domain containing ring finger 3		G	HIS/ARG	2,4320		0,2,2159	21	29	27		1886	5.2	1	2		27	0,8500		0,0,4250	yes	missense	SH3RF3	NM_001099289.1	29	0,2,6409	AA,AG,GG		0.0,0.0463,0.0156	probably-damaging	629/883	110065683	2,12820	2161	4250	6411	SO:0001583	missense	344558						zinc ion binding	g.chr2:110065683G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1886G>A	2.37:g.110065683G>A	ENSP00000309186:p.Arg629His						p.R629H	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			8	1886	+			629					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	G	18.14	3.557727	0.65425	4.63E-4	0.0	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58940	0.3;2.08	5.15	5.15	0.70609	.	0.053596	0.85682	D	0.000000	T	0.67795	0.2931	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	P	0.56088	0.791	T	0.64011	-0.6507	9	0.30078	T	0.28	-29.9474	18.8174	0.92081	0.0:0.0:1.0:0.0	.	629	Q8TEJ3	SH3R3_HUMAN	H	629	ENSP00000414997:R629H;ENSP00000309186:R629H	ENSP00000309186:R629H	R	+	2	0	SH3RF3	109432115	1.000000	0.71417	0.970000	0.41538	0.027000	0.11550	6.664000	0.74437	2.680000	0.91292	0.655000	0.94253	CGC		0.662	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		12	131	0	0	0	1	0	12	131					A	110065683	G	A	110065683	3	1	79	1	0	0	0	0	1	0	0	0	14310	1087	38	1	1916	1	SH3RF3	2	110065683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29635	110065683	133133690	2768	13085											
SEPT10	151011	broad.mit.edu	37	chr2	110323436	110323436	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaaacggcaactgtcCctgaaaaagaatatcgagca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000397712.2	-	7	1141	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000437928.1_Splice_Site_p.G240*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000356688.4_Splice_Site_p.G255*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	255	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388																																						ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.e7-1		septin 10							184	165	171					2																	110323436		1922	4118	6040	SO:0001630	splice_region_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110323436C>A	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"Septins"	14349	protein-coding gene	gene with protein product	"sept1-like"	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.763-1G>T	2.37:g.110323436C>A						SEPT10_ENST00000437928.1_Splice_Site_p.G240_splice|SEPT10_ENST00000415095.1_Splice_Site_p.G255_splice|SEPT10_ENST00000397712.2_Splice_Site_p.G255_splice|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Splice_Site_p.G88_splice|SEPT10_ENST00000397714.2_Splice_Site_p.G232_splice|SEPT10_ENST00000334001.6_Splice_Site_p.G122_splice	p.G255_splice			Q9P0V9	SEP10_HUMAN			7	1078	-			255					B3KRQ9|Q86VP5|Q9HAH6	Splice_Site	SNP	ENST00000397712.2	37	c.762_splice	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289347	0.80914	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	.	.	.	5.25	5.25	0.73442	.	0.267610	0.31922	N	0.006845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	.	.	.	X	213;255;255;232;122;240;88;255;62;88	.	ENSP00000334234:G122X	G	-	1	0	SEPT10	109680725	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GGA		0.388	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	Nonsense_Mutation	54	540	1	0	2.76378e-25	1	3.16915e-25	54	540					A	110323436	C	A	110323436	5	1	79	1	0	0	0	0	0	0	1	0	14110	637	22	3	621	3	SEPT10	2	110323436	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257753	110323436	132875937	2769	13086											
NPHP1	4867	broad.mit.edu	37	chr2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctctgcttattgtcacaGcaaggccctgcagttgttgg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000393272.3	-	4	396	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	100					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(298-300)gCt>gAt		nephronophthisis 1 (juvenile)							174	160	165					2																	110936030		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110936030G>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.299C>A	2.37:g.110936030G>T	ENSP00000376953:p.Ala100Asp					NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000393272.3_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D	p.A100D			O15259	NPHP1_HUMAN			4	372	-			100					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.299C>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258482	0.39896	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.62364	0.03;0.06;0.03;0.06	5.57	5.57	0.84162	.	0.210292	0.38959	N	0.001519	T	0.76723	0.4027	M	0.61703	1.905	0.42839	D	0.994045	P;P;D;P;P;D	0.71674	0.664;0.947;0.998;0.933;0.773;0.96	B;B;D;B;B;P	0.71656	0.231;0.344;0.974;0.357;0.408;0.56	T	0.76572	-0.2910	10	0.51188	T	0.08	-15.4178	17.4116	0.87487	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	D	100	ENSP00000313169:A100D;ENSP00000389879:A100D;ENSP00000376953:A100D;ENSP00000402176:A100D	ENSP00000313169:A100D	A	-	2	0	NPHP1	110293319	0.944000	0.32072	0.795000	0.32087	0.182000	0.23217	4.441000	0.59981	2.780000	0.95670	0.655000	0.94253	GCT		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		119	336	1	0	2.51135e-46	1	3.08402e-46	119	336					T	110936030	G	T	110936030	3	4	79	1	0	0	0	0	1	0	0	0	10621	971	34	3	1970	3	NPHP1	2	110936030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	612594	110936030	132263343	2770	13087											
BUB1	699	broad.mit.edu	37	chr2	111398943	111398943	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgatttcacagtcatgCacttgctcaatcatgtaaag	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000302759.6	-	22	2842	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_ENST00000535254.1_Silent_p.V888V|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000478175.1_5'UTR	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CACAGTCATGCACTTGCTCAA	0.373																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2662-2664)gtG>gtT		BUB1 mitotic checkpoint serine/threonine kinase							123	121	122					2																	111398943		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398943C>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2724G>T	2.37:g.111398943C>A						BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.V908V	p.V888V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2731	-		Ovarian(717;0.0822)	908			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2664G>T	CCDS33273.1																																																																																				0.373	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		120	565	1	0	4.61678e-68	1	5.85161e-68	120	565					A	111398943	C	A	111398943	2	1	79	1	0	0	0	0	0	0	0	1	1574	697	25	3		3	BUB1	2	111398943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462913	111398943	131800430	2771	13088											
ACOXL	55289	broad.mit.edu	37	chr2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcggaataatttattgGctatttggtggtgctatcag	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	59					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(175-177)tgG>tgA		acyl-CoA oxidase-like							190	178	182					2																	111551244		1897	4120	6017	SO:0001587	stop_gained	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111551244G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.177G>A	2.37:g.111551244G>A	ENSP00000374461:p.Trp59*					ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*	p.W59*			Q9NUZ1	ACOXL_HUMAN			4	401	+			59					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Nonsense_Mutation	SNP	ENST00000389811.4	37	c.177G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.708355	0.96821	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	.	.	.	5.24	5.24	0.73138	.	0.417998	0.22554	N	0.058543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.1242	16.3486	0.83191	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000343717:W59X	W	+	3	0	ACOXL	111267715	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	2.240000	0.43088	2.459000	0.83118	0.561000	0.74099	TGG		0.413	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		106	637	0	0	0	1	0	106	637					A	111551244	G	A	111551244	4	1	79	1	0	0	0	0	0	1	0	0	161	1212	42	2	187	2	ACOXL	2	111551244	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152301	111551244	131648129	2772	13089											
ACOXL	55289	broad.mit.edu	37	chr2	111559251	111559251	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcatggtgtggacaatggGatattaatatttgacaaggt	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(568-570)ggG>ggA		acyl-CoA oxidase-like							148	136	140					2																	111559251		2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111559251G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.570G>A	2.37:g.111559251G>A						ACOXL_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_Silent_p.G190G	p.G190G			Q9NUZ1	ACOXL_HUMAN			8	794	+			190					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.570G>A																																																																																					0.468	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		86	302	0	0	0	1	0	86	302					A	111559251	G	A	111559251	2	1	79	1	0	0	0	0	0	0	0	1	161	1161	41	2		2	ACOXL	2	111559251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8007	111559251	131640122	2773	13090											
ANAPC1	64682	broad.mit.edu	37	chr2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacatttctagtccatgCtaagcggtctgtgttataac	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGTCCATGCTAAGCGGTCT	0.353																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(2026-2028)Gca>Aca		anaphase promoting complex subunit 1							130	121	124					2																	112601003		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112601003C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2026G>A	2.37:g.112601003C>T	ENSP00000339109:p.Ala676Thr						p.A676T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			17	2798	-			676					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2026G>A	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.884|6.884	0.532519|0.532519	0.13127|0.13127	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.48201|.	0.82|.	4.51|4.51	3.63|3.63	0.41609|0.41609	.|.	0.375961|.	0.17661|.	N|.	0.166306|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.17631|0.17631	0.505|0.505	0.30186|0.30186	N|N	0.79999|0.79999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.13853|.	T|.	0.58|.	-8.0213|-8.0213	4.8761|4.8761	0.13656|0.13656	0.2894:0.5447:0.0:0.1659|0.2894:0.5447:0.0:0.1659	.|.	676|.	Q9H1A4|.	APC1_HUMAN|.	T|N	676|210	ENSP00000339109:A676T|.	ENSP00000339109:A676T|.	A|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112317474|112317474	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.399000|0.399000	0.20916|0.20916	0.875000|0.875000	0.35847|0.35847	0.446000|0.446000	0.29264|0.29264	GCA|AGC		0.353	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		48	213	0	0	0	1	0	48	213					T	112601003	C	T	112601003	3	4	79	1	0	0	0	0	1	0	0	0	598	797	28	2	3936	2	ANAPC1	2	112601003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1041752	112601003	130598370	2774	13091											
ANAPC1	64682	broad.mit.edu	37	chr2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagctggctgcagctggCgaagttgaaggttcaaagca	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGCAGCTGGCGAAGTTGAAG	0.493																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(118-120)cGc>cAc		anaphase promoting complex subunit 1							54	53	54					2																	112638284		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112638284C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.119G>A	2.37:g.112638284C>T	ENSP00000339109:p.Arg40His					ANAPC1_ENST00000489177.1_5'UTR	p.R40H	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			2	891	-			40					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.119G>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964728	0.92791	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	4.96	0.65561	.	0.000000	0.44483	U	0.000442	T	0.53932	0.1827	L	0.48362	1.52	0.53005	D	0.999967	P;B	0.49559	0.925;0.167	B;B	0.43052	0.406;0.018	T	0.57653	-0.7774	9	0.51188	T	0.08	-15.8115	14.8488	0.70281	0.0:0.9309:0.0:0.0691	.	40;40	F8WAS1;Q9H1A4	.;APC1_HUMAN	H	40	.	ENSP00000339109:R40H	R	-	2	0	ANAPC1	112354755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.222000	0.78025	1.453000	0.47775	0.585000	0.79938	CGC		0.493	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		51	208	0	0	0	1	0	51	208					T	112638284	C	T	112638284	3	4	79	1	0	0	0	0	1	0	0	0	598	768	27	1	5903	1	ANAPC1	2	112638284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37281	112638284	130561089	2775	13092											
MERTK	10461	broad.mit.edu	37	chr2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccattccaggcctgaCggagatggcggtcttcagtt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000421804.2_Missense_Mutation_p.T255M|MERTK_ENST00000409780.1_Missense_Mutation_p.T79M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	255	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCAGGCCTGACGGAGATGGCG	0.483																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(763-765)aCg>aTg		c-mer proto-oncogene tyrosine kinase							112	92	99					2																	112722774		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112722774C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.764C>T	2.37:g.112722774C>T	ENSP00000295408:p.Thr255Met					MERTK_ENST00000409780.1_Missense_Mutation_p.T79M|MERTK_ENST00000421804.2_Missense_Mutation_p.T255M	p.T255M			Q12866	MERTK_HUMAN			5	1021	+			255			Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.764C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.13657	2.57;2.57;2.57	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003950	T	0.29524	0.0736	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.64506	0.926	T	0.07966	-1.0745	10	0.87932	D	0	-16.4748	9.1185	0.36773	0.2841:0.592:0.1239:0.0	.	255	Q12866	MERTK_HUMAN	M	255;255;79	ENSP00000295408:T255M;ENSP00000389152:T255M;ENSP00000387277:T79M	ENSP00000295408:T255M	T	+	2	0	MERTK	112439245	0.875000	0.30112	0.609000	0.28983	0.053000	0.15095	1.785000	0.38684	1.308000	0.44962	0.563000	0.77884	ACG		0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			55	265	0	0	0	1	0	55	265					T	112722774	C	T	112722774	3	4	79	1	0	0	0	0	1	0	0	0	9520	536	19	1	782	1	MERTK	2	112722774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84490	112722774	130476599	2776	13093											
MERTK	10461	broad.mit.edu	37	chr2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaggcagcgtgcatgaaaGacttcagccacccaaatgtc	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCATGAAAGACTTCAGCCA	0.478																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1927-1929)Gac>Tac		c-mer proto-oncogene tyrosine kinase							114	102	106					2																	112766019		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112766019G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1927G>T	2.37:g.112766019G>T	ENSP00000295408:p.Asp643Tyr					MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y|MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y	p.D643Y			Q12866	MERTK_HUMAN			14	2184	+			643			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1927G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628837	0.87560	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.82984	-1.67;-1.67;-1.67	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33553	U	0.004800	D	0.88503	0.6454	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88800	0.3284	10	0.87932	D	0	-41.4143	19.1828	0.93630	0.0:0.0:1.0:0.0	.	643	Q12866	MERTK_HUMAN	Y	643;643;285;467	ENSP00000295408:D643Y;ENSP00000389152:D643Y;ENSP00000387277:D467Y	ENSP00000295408:D643Y	D	+	1	0	MERTK	112482490	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.582000	0.90791	2.829000	0.97493	0.579000	0.79373	GAC		0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			68	243	1	0	1.64915e-30	1	1.93527e-30	68	243					T	112766019	G	T	112766019	3	4	79	1	0	0	0	0	1	0	0	0	9520	942	33	3	1981	3	MERTK	2	112766019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43245	112766019	130433354	2777	13094											
MERTK	10461	broad.mit.edu	37	chr2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtgttgcggacttcGgcctctctaagaagatttac	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000421804.2_Missense_Mutation_p.G743S|MERTK_ENST00000409780.1_Missense_Mutation_p.G567S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCGGACTTCGGCCTCTCTAA	0.483																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2227-2229)Ggc>Agc		c-mer proto-oncogene tyrosine kinase							158	151	153					2																	112779036		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779036G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2227G>A	2.37:g.112779036G>A	ENSP00000295408:p.Gly743Ser					MERTK_ENST00000409780.1_Missense_Mutation_p.G567S|MERTK_ENST00000421804.2_Missense_Mutation_p.G743S	p.G743S			Q12866	MERTK_HUMAN			17	2484	+			743			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2227G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794592	0.96952	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34156	U	0.004202	D	0.97356	0.9135	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-27.087	19.012	0.92877	0.0:0.0:1.0:0.0	.	743	Q12866	MERTK_HUMAN	S	743;743;379;567;67	ENSP00000295408:G743S;ENSP00000389152:G743S;ENSP00000387277:G567S;ENSP00000412660:G67S	ENSP00000295408:G743S	G	+	1	0	MERTK	112495507	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	GGC		0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			84	415	0	0	0	1	0	84	415					A	112779036	G	A	112779036	3	1	79	1	0	0	0	0	1	0	0	0	9520	1116	39	1	2293	1	MERTK	2	112779036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13017	112779036	130420337	2778	13095											
FBLN7	129804	broad.mit.edu	37	chr2	112942917	112942917	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgaagacgtctccattGtgagtatctccaggggaggc	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409450.3_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGTCTCCATTGTGAGTATCTC	0.572																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7+1		fibulin 7							91	76	81					2																	112942917		2203	4300	6503	SO:0001630	splice_region_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942917G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.947+1G>A	2.37:g.112942917G>A						FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site		NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1218	+								A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Splice_Site	SNP	ENST00000331203.2	37		CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507593	0.64410	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7029	0.91627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN7	112659388	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.268000	0.95675	2.513000	0.84729	0.561000	0.74099	.		0.572	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	Intron	19	323	0	0	0	1	0	19	323					A	112942917	G	A	112942917	5	1	79	1	0	0	0	0	0	0	1	0	5726	1391	48	2	974	2	FBLN7	2	112942917	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163881	112942917	130256456	2779	13096											
FBLN7	129804	broad.mit.edu	37	chr2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaccggcagactggggAtctgatccttgtgcagaacc	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000331203.2	+	8	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	395					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGACTGGGGATCTGATCCTT	0.647																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1183-1185)gAt>gGt		fibulin 7							97	96	96					2																	112944947		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944947A>G		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1184A>G	2.37:g.112944947A>G	ENSP00000331411:p.Asp395Gly					FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G	p.D395G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			8	1455	+			395					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.1184A>G	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265622	0.40095	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	N	0.08118	0	0.27037	N	0.964119	B;B;B	0.24368	0.001;0.001;0.102	B;B;B	0.20577	0.005;0.007;0.03	T	0.12451	-1.0547	10	0.31617	T	0.26	-26.3332	15.451	0.75274	1.0:0.0:0.0:0.0	.	261;349;395	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	G	395;261;349;217	ENSP00000331411:D395G;ENSP00000386822:D261G;ENSP00000387000:D349G;ENSP00000272559:D217G	ENSP00000272559:D217G	D	+	2	0	FBLN7	112661418	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.861000	0.92277	2.056000	0.61249	0.454000	0.30748	GAT		0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		158	556	0	0	0	1	0	158	556					G	112944947	A	G	112944947	3	3	79	1	0	0	0	0	1	0	0	0	5726	333	12	4	1214	4	FBLN7	2	112944947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2030	112944947	130254426	2780	13097											
ZC3H6	376940	broad.mit.edu	37	chr2	113088934	113088934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatcatgcaaatgctggCactaatgtcaaacacaaaag	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	ZC3H6_ENST00000343936.4_Silent_p.G813G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	813							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2437-2439)ggC>ggT		zinc finger CCCH-type containing 6							119	114	116					2																	113088934		1933	4163	6096	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113088934C>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2439C>T	2.37:g.113088934C>T						ZC3H6_ENST00000343936.4_Silent_p.G813G	p.G813G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	2840	+			813					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.2439C>T	CCDS46393.1																																																																																				0.438	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		85	455	0	0	0	1	0	85	455					T	113088934	C	T	113088934	2	4	79	1	0	0	0	0	0	0	0	1	17624	697	25	2		2	ZC3H6	2	113088934	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143987	113088934	130110439	2781	13098											
POLR1B	84172	broad.mit.edu	37	chr2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcaatgttcctgactggTacccaaatgagcaagctgcg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000263331.5	+	6	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	318					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(952-954)Tac>Cac		polymerase (RNA) I polypeptide B, 128kDa							140	134	136					2																	113309541		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113309541T>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.952T>C	2.37:g.113309541T>C	ENSP00000263331:p.Tyr318His					POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	p.Y318H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			6	1532	+			318					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.952T>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065246	0.55432	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.03	5.03	0.67393	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.178498	0.51477	D	0.000095	T	0.75583	0.3869	M	0.74258	2.255	0.51482	D	0.999925	P;D;B;P	0.76494	0.51;0.999;0.058;0.566	B;D;B;B	0.72982	0.149;0.979;0.086;0.315	T	0.72981	-0.4126	10	0.16420	T	0.52	-10.5154	14.0384	0.64660	0.0:0.0:0.0:1.0	.	356;318;262;318	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	318;356;318;107;262	ENSP00000263331:Y318H;ENSP00000444136:Y356H;ENSP00000387143:Y318H;ENSP00000437914:Y107H;ENSP00000405358:Y262H	ENSP00000263331:Y318H	Y	+	1	0	POLR1B	113026012	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	6.223000	0.72257	2.025000	0.59659	0.482000	0.46254	TAC		0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		110	332	0	0	0	1	0	110	332					C	113309541	T	C	113309541	3	2	79	1	0	0	0	0	1	0	0	0	12252	1638	57	4	974	4	POLR1B	2	113309541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220607	113309541	129889832	2782	13099											
POLR1B	84172	broad.mit.edu	37	chr2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctactgggaatctgcGttctaaaacaggtaaaatta	8	6	2	0	rs369255960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000263331.5	+	8	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	440					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1318-1320)cGt>cAt		polymerase (RNA) I polypeptide B, 128kDa		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	78	80	79		1151,1319	6	1	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR1B	NM_001137604.1,NM_019014.4	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	384/1080,440/1136	113315647	1,13003	2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113315647G>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1319G>A	2.37:g.113315647G>A	ENSP00000263331:p.Arg440His					POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	p.R440H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			8	1899	+			440					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1319G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937416	0.73557	0.0	1.16E-4	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.04	6.04	0.98038	.	0.264671	0.44688	D	0.000436	D	0.82370	0.5022	L	0.61387	1.9	0.44702	D	0.997695	D;P;D	0.57899	0.981;0.561;0.968	P;B;B	0.50617	0.646;0.052;0.365	T	0.81236	-0.1024	10	0.42905	T	0.14	-19.4875	19.3507	0.94384	0.0:0.0:1.0:0.0	.	478;384;440	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	440;478;229;384	ENSP00000263331:R440H;ENSP00000444136:R478H;ENSP00000437914:R229H;ENSP00000405358:R384H	ENSP00000263331:R440H	R	+	2	0	POLR1B	113032118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.873000	0.98535	0.561000	0.74099	CGT		0.343	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		24	188	0	0	0	1	0	24	188					A	113315647	G	A	113315647	3	1	79	1	0	0	0	0	1	0	0	0	12252	1145	40	1	1349	1	POLR1B	2	113315647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6106	113315647	129883726	2783	13100											
POLR1B	84172	broad.mit.edu	37	chr2	113333196	113333196	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagaaaatacaactgtactCtgtgtagtcgcagtgacact	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000263331.5	+	15	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000537335.1_Silent_p.L889L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1100					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3298-3300)Ctg>Ttg		polymerase (RNA) I polypeptide B, 128kDa							142	121	128					2																	113333196		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113333196C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3298C>T	2.37:g.113333196C>T						POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000537335.1_Silent_p.L889L	p.L1100L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3878	+			1100					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.3298C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149075	0.09185	.	.	ENSG00000125630	ENST00000536096	.	.	.	5.37	-3.41	0.04839	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.38933	D	0.957993	.	.	.	.	.	.	T	0.64592	-0.6371	5	0.87932	D	0	-6.2206	8.4804	0.33038	0.0848:0.1293:0.6273:0.1586	.	.	.	.	F	458	.	ENSP00000441192:S458F	S	+	2	0	POLR1B	113049667	0.003000	0.15002	0.000000	0.03702	0.962000	0.63368	0.042000	0.13949	-0.551000	0.06175	-0.262000	0.10625	TCT		0.458	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		140	364	0	0	0	1	0	140	364					T	113333196	C	T	113333196	2	4	79	1	0	0	0	0	0	0	0	1	12252	912	32	2		2	POLR1B	2	113333196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17549	113333196	129866177	2784	13101											
SLC20A1	6574	broad.mit.edu	37	chr2	113416788	113416788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttgactaggtgcagtGcagttgcctaatgggaacct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	352					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1054-1056)gtG>gtA		solute carrier family 20 (phosphate transporter), member 1							108	107	108					2																	113416788		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416788G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1056G>A	2.37:g.113416788G>A						SLC20A1_ENST00000480984.1_3'UTR	p.V352V	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	1595	+			352					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1056G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234197	0.01505	.	.	ENSG00000144136	ENST00000433924	.	.	.	5.57	1.5	0.22942	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.45659	-0.9246	4	.	.	.	-12.5585	7.6007	0.28075	0.0769:0.0:0.5076:0.4154	.	.	.	.	T	136	.	.	A	+	1	0	SLC20A1	113133259	0.991000	0.36638	0.997000	0.53966	0.220000	0.24768	0.475000	0.22164	0.300000	0.22699	-0.182000	0.12963	GCA		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		112	372	0	0	0	1	0	112	372					A	113416788	G	A	113416788	2	1	79	1	0	0	0	0	0	0	0	1	14488	1306	46	2		2	SLC20A1	2	113416788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83592	113416788	129782585	2785	13102											
SLC20A1	6574	broad.mit.edu	37	chr2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccggcctgtacaaagagCtactccataaattacatctt	5	11	1	1	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	391					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1171-1173)Cta>Ata		solute carrier family 20 (phosphate transporter), member 1							137	131	133					2																	113416903		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416903C>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1171C>A	2.37:g.113416903C>A	ENSP00000272542:p.Leu391Ile					SLC20A1_ENST00000480984.1_3'UTR	p.L391I	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	1710	+			391					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1171C>A	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.864962|3.864962	0.71949|0.71949	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.92249	.|-3.0	5.33|5.33	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94092|0.94092	0.8106|0.8106	L|L	0.56124|0.56124	1.755|1.755	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	D|D	0.93439|0.93439	0.6792|0.6792	5|10	.|0.51188	.|T	.|0.08	-44.6552|-44.6552	12.1642|12.1642	0.54120|0.54120	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	.|391;391	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	D|I	174|391;203	.|ENSP00000272542:L391I	.|ENSP00000272542:L391I	A|L	+|+	2|1	0|2	SLC20A1|SLC20A1	113133374|113133374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.720000|2.720000	0.47252|0.47252	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		101	475	1	0	9.27813e-46	1	1.13844e-45	101	475					A	113416903	C	A	113416903	3	1	79	1	0	0	0	0	1	0	0	0	14488	796	28	3	1197	3	SLC20A1	2	113416903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	113416903	129782470	2786	13103											
CKAP2L	150468	broad.mit.edu	37	chr2	113513898	113513898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgatcttgcttgatGtttggatgtctgttgttata	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000302450.6	-	4	1128	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_ENST00000541405.1_Silent_p.N185N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	350						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(553-555)aaC>aaT		cytoskeleton associated protein 2-like							166	157	160					2																	113513898		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113513898G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1050C>T	2.37:g.113513898G>A						CKAP2L_ENST00000302450.6_Silent_p.N350N	p.N185N			Q8IYA6	CKP2L_HUMAN			4	1078	-			350					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.555C>T	CCDS2100.1																																																																																				0.433	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		177	517	0	0	0	1	0	177	517					A	113513898	G	A	113513898	2	1	79	1	0	0	0	0	0	0	0	1	3452	1368	48	2		2	CKAP2L	2	113513898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96995	113513898	129685475	2787	13104											
CKAP2L	150468	broad.mit.edu	37	chr2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattataagagtcagtctttGgcttacttctggtatataat	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000302450.6	-	4	704	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(130-132)cCa>cTa		cytoskeleton associated protein 2-like							116	122	120					2																	113514322		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514322G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.626C>T	2.37:g.113514322G>A	ENSP00000305204:p.Pro209Leu					CKAP2L_ENST00000302450.6_Missense_Mutation_p.P209L	p.P44L			Q8IYA6	CKP2L_HUMAN			4	654	-			209					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.131C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891306	0.52014	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.17854	2.25;3.2	5.0	5.0	0.66597	.	0.526312	0.17617	N	0.167865	T	0.23133	0.0559	M	0.73598	2.24	0.47994	D	0.999565	P	0.44044	0.825	P	0.44897	0.463	T	0.07809	-1.0753	10	0.02654	T	1	-1.9767	14.5097	0.67776	0.0:0.0:1.0:0.0	.	209	Q8IYA6	CKP2L_HUMAN	L	44;209	ENSP00000438763:P44L;ENSP00000305204:P209L	ENSP00000305204:P209L	P	-	2	0	CKAP2L	113230793	0.044000	0.20184	0.812000	0.32479	0.175000	0.22909	2.232000	0.43018	2.705000	0.92388	0.585000	0.79938	CCA		0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		37	217	0	0	0	1	0	37	217					A	113514322	G	A	113514322	3	1	79	1	0	0	0	0	1	0	0	0	3452	1348	47	2	1635	2	CKAP2L	2	113514322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424	113514322	129685051	2788	13105											
IL1B	3553	broad.mit.edu	37	chr2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttgttgaagacaaatcGcttttccatcttcttctttg	5	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(640-642)Cga>Tga		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						191	185	187					2																	113588108		2203	4300	6503	SO:0001587	stop_gained	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588108G>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.640C>T	2.37:g.113588108G>A	ENSP00000263341:p.Arg214*					IL1B_ENST00000491056.1_5'UTR	p.R214*	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			7	850	-			214					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	37	c.640C>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		87	614	0	0	0	1	0	87	614					A	113588108	G	A	113588108	4	1	79	1	0	0	0	0	0	1	0	0	7681	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73786	113588108	129611265	2789	13106											
PSD4	23550	broad.mit.edu	37	chr2	113940351	113940351	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagacaagatgctcctccCtggggctccggtgtggagct	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000245796.6	+	2	513	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000441564.3_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	106					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(316-318)ccC>ccA		pleckstrin and Sec7 domain containing 4							44	47	46					2																	113940351		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940351C>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.318C>A	2.37:g.113940351C>A						PSD4_ENST00000441564.2_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	p.P106P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	513	+			106					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.318C>A	CCDS33276.1																																																																																				0.637	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		98	213	1	0	5.01286e-43	1	6.11331e-43	98	213					A	113940351	C	A	113940351	2	1	79	1	0	0	0	0	0	0	0	1	12696	668	24	3		3	PSD4	2	113940351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352243	113940351	129259022	2790	13107											
PSD4	23550	broad.mit.edu	37	chr2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctggcgagtccttGctcagagaacagtgcttctg	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000245796.6	+	2	962	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000441564.3_Missense_Mutation_p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(766-768)tGc>tAc		pleckstrin and Sec7 domain containing 4							93	93	93					2																	113940800		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940800G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.767G>A	2.37:g.113940800G>A	ENSP00000245796:p.Cys256Tyr					PSD4_ENST00000441564.2_Missense_Mutation_p.C256Y	p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	962	+			256					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.767G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623347	0.28889	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.96;2.93	5.83	-3.81	0.04294	.	0.734366	0.13127	N	0.411733	T	0.05547	0.0146	L	0.29908	0.895	0.23361	N	0.997835	B;B	0.17667	0.023;0.013	B;B	0.20384	0.029;0.013	T	0.39187	-0.9626	9	.	.	.	.	2.9831	0.05960	0.2146:0.3227:0.3571:0.1056	.	256;256	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Y	256	ENSP00000245796:C256Y;ENSP00000413997:C256Y	.	C	+	2	0	PSD4	113657271	0.000000	0.05858	0.470000	0.27216	0.678000	0.39670	-1.117000	0.03283	-0.380000	0.07894	-0.964000	0.02622	TGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		91	402	0	0	0	1	0	91	402					A	113940800	G	A	113940800	3	1	79	1	0	0	0	0	1	0	0	0	12696	1319	46	2	769	2	PSD4	2	113940800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	113940800	129258573	2791	13108											
PSD4	23550	broad.mit.edu	37	chr2	113955353	113955353	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaccactgtctggagggggaGagcttggtggggcagatggt	20	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000245796.6	+	14	2682	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	PSD4_ENST00000441564.3_Missense_Mutation_p.E800D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGGGGAGAGCTTGGTGG	0.627																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2485-2487)gaG>gaT		pleckstrin and Sec7 domain containing 4							46	47	46					2																	113955353		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955353G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2487G>T	2.37:g.113955353G>T	ENSP00000245796:p.Glu829Asp					PSD4_ENST00000441564.2_Missense_Mutation_p.E800D	p.E829D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			14	2682	+			829			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2487G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	7.974	0.749789	0.15778	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.10382	2.88;2.9	4.67	1.74	0.24563	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.986040	0.08314	N	0.964991	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25772	0.045;0.134;0.012;0.134	B;B;B;B	0.38755	0.103;0.281;0.037;0.281	T	0.51865	-0.8651	10	0.35671	T	0.21	.	8.0802	0.30739	0.091:0.4703:0.4387:0.0	.	59;486;800;829	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	D	829;800;42	ENSP00000245796:E829D;ENSP00000413997:E800D	ENSP00000245796:E829D	E	+	3	2	PSD4	113671824	0.962000	0.33011	0.713000	0.30519	0.360000	0.29518	1.057000	0.30492	0.040000	0.15660	-0.379000	0.06801	GAG		0.627	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		11	354	1	0	1.61879e-10	1	1.71755e-10	11	354					T	113955353	G	T	113955353	3	4	79	1	0	0	0	0	1	0	0	0	12696	933	33	3	2537	3	PSD4	2	113955353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14553	113955353	129244020	2792	13109											
PSD4	23550	broad.mit.edu	37	chr2	113955419	113955419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggccacccccgccacGcattacaccaagaagccgca	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000245796.6	+	14	2748	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_ENST00000441564.3_Silent_p.T822T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	851	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.T851T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652																																						ENST00000245796.6																			1	Substitution - coding silent(1)	p.T851T(1)	endometrium(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2551-2553)acG>acA		pleckstrin and Sec7 domain containing 4							32	33	33					2																	113955419		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955419G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2553G>A	2.37:g.113955419G>A						PSD4_ENST00000441564.2_Silent_p.T822T	p.T851T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			14	2748	+			851			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.2553G>A	CCDS33276.1																																																																																				0.652	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		32	213	0	0	0	1	0	32	213					A	113955419	G	A	113955419	2	1	79	1	0	0	0	0	0	0	0	1	12696	1074	38	1		1	PSD4	2	113955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	113955419	129243954	2793	13110											
PAX8	7849	broad.mit.edu	37	chr2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggtgggccaggtctaCgatgcgctggcggaccactt	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	35	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20	GRCh37	CM065372	PAX8	M		c.(103-105)Gta>Ata		paired box 8							45	51	49					2																	114004419		2139	4285	6424	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114004419C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.103G>A	2.37:g.114004419C>T	ENSP00000395498:p.Val35Ile					AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA	p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			3	297	-			35			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.103G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965967	0.92855	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99483	-5.99;-5.99;-5.99;-5.99;-5.99	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	L	0.48986	1.54	0.80722	D	1	P;D;D;D;D	0.89917	0.787;1.0;0.993;0.992;0.968	P;D;D;P;P	0.78314	0.613;0.991;0.96;0.566;0.767	D	0.99387	1.0924	10	0.87932	D	0	.	16.0313	0.80579	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	I	35	ENSP00000263335:V35I;ENSP00000380768:V35I;ENSP00000314750:V35I;ENSP00000395498:V35I;ENSP00000263334:V35I	ENSP00000263334:V35I	V	-	1	0	PAX8	113720889	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.763000	0.85283	2.382000	0.81193	0.655000	0.94253	GTA		0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			54	260	0	0	0	1	0	54	260					T	114004419	C	T	114004419	3	4	79	1	0	0	0	0	1	0	0	0	11527	536	19	1	1164	1	PAX8	2	114004419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49000	114004419	129194954	2794	13111											
RABL2A	11159	broad.mit.edu	37	chr2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctgtacaagcacacaGccacggtagatggcaagacc	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000393167.3	+	4	412	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000409875.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	63					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552																																						ENST00000409875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						c.(187-189)Gcc>Tcc		RAB, member of RAS oncogene family-like 2A							114	72	86					2																	114391779		2203	4300	6503	SO:0001583	missense	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114391779G>T		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"RAB, member RAS oncogene"	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.187G>T	2.37:g.114391779G>T	ENSP00000376872:p.Ala63Ser					RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393167.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S	p.A63S			Q9UBK7	RBL2A_HUMAN			5	489	+			63					B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	37	c.187G>T	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374341	0.42105	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000413545;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.05;-1.36;-1.36;-1.36;-1.36	4.13	3.25	0.37280	Small GTP-binding protein domain (1);	0.308233	0.40640	N	0.001055	T	0.80166	0.4573	M	0.65975	2.015	0.21762	N	0.999553	P;P;P;D	0.53312	0.633;0.589;0.633;0.959	P;P;P;P	0.53689	0.507;0.507;0.507;0.732	T	0.68492	-0.5394	10	0.08179	T	0.78	.	8.0718	0.30693	0.2026:0.0:0.7974:0.0	.	63;63;63;63	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5	.;.;RBL2A_HUMAN;.	S	63	ENSP00000376872:A63S;ENSP00000386460:A63S;ENSP00000388944:A63S;ENSP00000376870:A63S;ENSP00000376871:A63S;ENSP00000387229:A63S;ENSP00000365622:A63S	ENSP00000365622:A63S	A	+	1	0	RABL2A	114108249	0.951000	0.32395	0.257000	0.24404	0.476000	0.33039	1.826000	0.39092	0.966000	0.38159	-0.369000	0.07265	GCC		0.552	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			13	89	1	0	4.93089e-13	1	5.31412e-13	13	89					T	114391779	G	T	114391779	3	4	79	1	0	0	0	0	1	0	0	0	13020	971	34	3	197	3	RABL2A	2	114391779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387360	114391779	128807594	2795	13112											
RABL2A	11159	broad.mit.edu	37	chr2	114398497	114398497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatatacagaggaaagtcacCtataggaacctgagcacctg	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000393167.3	+	6	549	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000409875.1_Silent_p.T108T|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393165.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	108					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502																																						ENST00000409875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						c.(322-324)acC>acA		RAB, member of RAS oncogene family-like 2A							91	85	87					2																	114398497		2201	4299	6500	SO:0001819	synonymous_variant	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114398497C>A		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"RAB, member RAS oncogene"	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.324C>A	2.37:g.114398497C>A						RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000393167.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR	p.T108T			Q9UBK7	RBL2A_HUMAN			7	626	+			108					B7ZBD6|Q9NU37	Silent	SNP	ENST00000393167.3	37	c.324C>A	CCDS2118.1																																																																																				0.502	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			57	346	1	0	2.03652e-46	1	2.50201e-46	57	346					A	114398497	C	A	114398497	2	1	79	1	0	0	0	0	0	0	0	1	13020	668	24	3		3	RABL2A	2	114398497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6718	114398497	128800876	2796	13113											
SLC35F5	80255	broad.mit.edu	37	chr2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcatataaaagcaaatattCttctgattcccaccatcaca	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	486					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1456-1458)aGa>aTa		solute carrier family 35, member F5							75	76	76					2																	114476770		2202	4299	6501	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114476770C>A	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1457G>T	2.37:g.114476770C>A	ENSP00000245680:p.Arg486Ile					SLC35F5_ENST00000470204.2_5'UTR	p.R486I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			14	1870	-			486					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1457G>T	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001974|4.001974	0.74932|0.74932	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.47177	.|0.85;0.85	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.56761	.|0.2007	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.58493	.|-0.7627	.|10	.|0.46703	.|T	.|0.11	-16.8411|-16.8411	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486	.|Q8WV83	.|S35F5_HUMAN	X|I	18|486;480	.|ENSP00000245680:R486I;ENSP00000386754:R480I	.|ENSP00000245680:R486I	E|R	-|-	1|2	0|0	SLC35F5|SLC35F5	114193240|114193240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.313	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		37	254	1	0	1.96642e-18	1	2.182e-18	37	254					A	114476770	C	A	114476770	3	1	79	1	0	0	0	0	1	0	0	0	14642	913	32	3	122	3	SLC35F5	2	114476770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78273	114476770	128722603	2797	13114											
SLC35F5	80255	broad.mit.edu	37	chr2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtatcaatgtttgtgCtctcaggtttttcacttgga	8	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	180					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(538-540)aGc>aTc		solute carrier family 35, member F5							234	224	228					2																	114501313		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501313C>A	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.539G>T	2.37:g.114501313C>A	ENSP00000245680:p.Ser180Ile					SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	p.S180I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			6	952	-			180					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.539G>T	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202722	0.38905	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.35	4.41	0.53225	.	0.509245	0.23142	N	0.051441	T	0.28499	0.0705	N	0.14661	0.345	0.40549	D	0.981104	B;B;B	0.26876	0.162;0.015;0.037	B;B;B	0.28553	0.091;0.009;0.026	T	0.10941	-1.0608	10	0.36615	T	0.2	-3.8121	6.8013	0.23752	0.0:0.7491:0.0:0.2509	.	180;174;180	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	180;174;174	ENSP00000245680:S180I;ENSP00000386754:S174I	ENSP00000245680:S180I	S	-	2	0	SLC35F5	114217783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.340000	0.33896	1.327000	0.45338	0.655000	0.94253	AGC		0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		157	616	1	0	6.95259e-96	1	8.93585e-96	157	616					A	114501313	C	A	114501313	3	1	79	1	0	0	0	0	1	0	0	0	14642	797	28	3	1072	3	SLC35F5	2	114501313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24543	114501313	128698060	2798	13115											
DPP10	57628	broad.mit.edu	37	chr2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggaactgggaagtaacaGccctccacagagaaactgga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGTAACAGCCCTCCACAG	0.408																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(76-78)aGc>aAc		dipeptidyl-peptidase 10 (non-functional)							185	171	176					2																	116066831		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066831G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.77G>A	2.37:g.116066831G>A	ENSP00000386565:p.Ser26Asn					DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N|DPP10_ENST00000310323.8_Missense_Mutation_p.S19N	p.S26N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	557	+			26			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.77G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136495	0.06711	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.25245	0.725	0.43267	D	0.995217	B;B;B;B	0.18610	0.029;0.0;0.008;0.014	B;B;B;B	0.23018	0.043;0.002;0.013;0.013	T	0.08472	-1.0720	10	0.02654	T	1	-1.0384	13.8543	0.63517	0.0735:0.0:0.9265:0.0	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	26;22;30;19	ENSP00000386565:S26N;ENSP00000376854:S22N;ENSP00000376855:S30N;ENSP00000309066:S19N	ENSP00000309066:S19N	S	+	2	0	DPP10	115783301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	1.375000	0.46248	0.655000	0.94253	AGC		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		54	182	0	0	0	1	0	54	182					A	116066831	G	A	116066831	3	1	79	1	0	0	0	0	1	0	0	0	4743	971	34	2	254	2	DPP10	2	116066831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1565518	116066831	127132542	2799	13116											
DPP10	57628	broad.mit.edu	37	chr2	116101424	116101424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcgtcagaaaccagattGtctttggaagacctctttag	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	69						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAACCAGATTGTCTTTGGAAG	0.343																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(205-207)ttG>ttA		dipeptidyl-peptidase 10 (non-functional)							92	96	94					2																	116101424		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101424G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.207G>A	2.37:g.116101424G>A						DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L|DPP10_ENST00000310323.8_Silent_p.L62L	p.L69L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			3	687	+			69					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.207G>A	CCDS46400.1																																																																																				0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		73	319	0	0	0	1	0	73	319					A	116101424	G	A	116101424	2	1	79	1	0	0	0	0	0	0	0	1	4743	1368	48	2		2	DPP10	2	116101424	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34593	116101424	127097949	2800	13117											
DPP10	57628	broad.mit.edu	37	chr2	116101463	116101463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagactttgtgcttcaCgatccagaggctcggtggat	13	8	1	2	rs143448690	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333													C|||	3	0.000599042	0.0	0.0	5008	,	,		14959	0.0		0.0	False		,,,				2504	0.0031					ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(244-246)caC>caT		dipeptidyl-peptidase 10 (non-functional)							86	88	87					2																	116101463		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101463C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.246C>T	2.37:g.116101463C>T						DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000310323.8_Silent_p.H75H	p.H82H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			3	726	+			82					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.246C>T	CCDS46400.1																																																																																				0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		63	272	0	0	0	1	0	63	272					T	116101463	C	T	116101463	2	4	79	1	0	0	0	0	0	0	0	1	4743	535	19	1		1	DPP10	2	116101463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	116101463	127097910	2801	13118											
DPP10	57628	broad.mit.edu	37	chr2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctaggtaaccttcAaagcatcaagacattcagtt	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	126						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAACCTTCAAAGCATCAAG	0.279																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(376-378)Aaa>Gaa		dipeptidyl-peptidase 10 (non-functional)							83	82	82					2																	116283483		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116283483A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.376A>G	2.37:g.116283483A>G	ENSP00000386565:p.Lys126Glu					DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000488208.1_3'UTR	p.K126E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			5	856	+			126					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.376A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070143	0.76301	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95724	1.61;1.61;-3.79;1.61;1.61;-3.79	4.99	4.99	0.66335	.	0.252077	0.38837	N	0.001546	D	0.95573	0.8561	M	0.69823	2.125	0.38306	D	0.94311	P;P;P;P	0.51791	0.936;0.919;0.948;0.895	P;B;P;P	0.52217	0.693;0.3;0.63;0.496	D	0.94845	0.8008	10	0.23891	T	0.37	-30.62	12.5691	0.56326	1.0:0.0:0.0:0.0	.	119;130;122;126	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	126;76;122;130;119;76;76	ENSP00000386565:K126E;ENSP00000387038:K76E;ENSP00000376854:K122E;ENSP00000376855:K130E;ENSP00000309066:K119E;ENSP00000402499:K76E	ENSP00000309066:K119E	K	+	1	0	DPP10	115999953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.357000	0.73051	2.084000	0.62774	0.460000	0.39030	AAA		0.279	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		55	190	0	0	0	1	0	55	190					G	116283483	A	G	116283483	3	3	79	1	0	0	0	0	1	0	0	0	4743	131	5	4	565	4	DPP10	2	116283483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182020	116283483	126915890	2802	13119											
DPP10	57628	broad.mit.edu	37	chr2	116520160	116520160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagaaatatgagatgAcatcagatacgtggctctct	9	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116520160A>G	ENST00000410059.1	+	12	1567	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	DPP10_ENST00000310323.8_Missense_Mutation_p.T356A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATGAGATGACATCAGATAC	0.353																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1087-1089)Aca>Gca		dipeptidyl-peptidase 10 (non-functional)							197	186	190					2																	116520160		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116520160A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1087A>G	2.37:g.116520160A>G	ENSP00000386565:p.Thr363Ala					DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A|DPP10_ENST00000310323.8_Missense_Mutation_p.T356A	p.T363A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			12	1567	+			363					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1087A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825688	0.16749	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.99	3.83	0.44106	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.499086	0.21341	N	0.076137	T	0.09686	0.0238	N	0.01250	-0.93	0.29987	N	0.817178	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.15484	0.008;0.002;0.013;0.013	T	0.08932	-1.0698	10	0.33940	T	0.23	-1.6217	4.4942	0.11828	0.6423:0.1833:0.1744:0.0	.	356;367;359;363	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	A	363;313;367;356;313	ENSP00000386565:T363A;ENSP00000387038:T313A;ENSP00000376855:T367A;ENSP00000309066:T356A	ENSP00000309066:T356A	T	+	1	0	DPP10	116236630	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.676000	0.54612	0.927000	0.37143	0.454000	0.30748	ACA		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		12	589	0	0	0	1	0	12	589					G	116520160	A	G	116520160	3	3	79	1	0	0	0	0	1	0	0	0	4743	275	10	4	1304	4	DPP10	2	116520160	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236677	116520160	126679213	2803	13120											
DDX18	8886	broad.mit.edu	37	chr2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatttgcccgtcttggCcattcatgtaagtgatgatg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1360-1362)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							147	145	145					2																	118582670		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582670C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1361C>T	2.37:g.118582670C>T	ENSP00000263239:p.Ala454Val						p.A454V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			9	1489	+			454			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1361C>T	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784446	0.49997	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.74526	-0.85;-0.85	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.046893	0.85682	N	0.000000	T	0.69753	0.3146	N	0.21508	0.67	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.67473	-0.5662	10	0.30078	T	0.28	.	19.0359	0.92978	0.0:1.0:0.0:0.0	.	454	Q9NVP1	DDX18_HUMAN	V	454;193;118	ENSP00000263239:A454V;ENSP00000415604:A118V	ENSP00000263239:A454V	A	+	2	0	DDX18	118299140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.583000	0.87209	0.650000	0.86243	GCC		0.388	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		63	534	0	0	0	1	0	63	534					T	118582670	C	T	118582670	3	4	79	1	0	0	0	0	1	0	0	0	4356	739	26	2	1395	2	DDX18	2	118582670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2062510	118582670	124616703	2804	13121											
DDX18	8886	broad.mit.edu	37	chr2	118583136	118583136	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactagacattcctgaagtCgactggattgttcagtatga	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	494	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1480-1482)gtC>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							128	116	120					2																	118583136		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583136C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1482C>T	2.37:g.118583136C>T							p.V494V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			10	1610	+			494			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1482C>T	CCDS2120.1																																																																																				0.438	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		43	403	0	0	0	1	0	43	403					T	118583136	C	T	118583136	2	4	79	1	0	0	0	0	0	0	0	1	4356	871	31	1		1	DDX18	2	118583136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	118583136	124616237	2805	13122											
CCDC93	54520	broad.mit.edu	37	chr2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcccctggatctggtggggCtccagctggtgtgggcattt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|RP11-98C1.2_ENST00000591103.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(310-312)gaG>gaT		coiled-coil domain containing 93							114	112	113					2																	118758448		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118758448C>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.312G>T	2.37:g.118758448C>A	ENSP00000365477:p.Glu104Asp					CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	p.E104D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			4	449	-			104					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.312G>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126002	0.77436	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.49432	0.78;0.78	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.80508	2.5	0.50813	D	0.999895	D	0.89917	1.0	D	0.83275	0.996	T	0.70163	-0.4947	10	0.44086	T	0.13	-23.1679	12.5642	0.56300	0.0:0.918:0.0:0.082	.	104	Q567U6	CCD93_HUMAN	D	104	ENSP00000365477:E104D;ENSP00000324135:E104D	ENSP00000324135:E104D	E	-	3	2	CCDC93	118474918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.082000	0.30803	1.480000	0.48289	0.591000	0.81541	GAG		0.453	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		17	239	1	0	1.99824e-07	1	2.07512e-07	17	239					A	118758448	C	A	118758448	3	1	79	1	0	0	0	0	1	0	0	0	2879	796	28	3	1667	3	CCDC93	2	118758448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175312	118758448	124440925	2806	13123											
MARCO	8685	broad.mit.edu	37	chr2	119699912	119699912	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctcaaggaggacgagctCttgagtgagacccaacaagc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000327097.4	+	1	171	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	12					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L12L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			1	Substitution - coding silent(1)	p.L12L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70								macrophage receptor with collagenous structure							96	96	96					2																	119699912		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119699912C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.36C>A	2.37:g.119699912C>A						MARCO_ENST00000327097.4_Silent_p.L12L				Q9UEW3	MARCO_HUMAN			0	49	+								B4DW79|Q9Y5S3	Translation_Start_Site	SNP	ENST00000327097.4	37		CCDS2124.1																																																																																				0.438	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		103	266	1	0	2.12867e-53	1	2.65328e-53	103	266					A	119699912	C	A	119699912	2	1	79	1	0	0	0	0	0	0	0	1	9352	900	32	3		3	MARCO	2	119699912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941464	119699912	123499461	2807	13124											
MARCO	8685	broad.mit.edu	37	chr2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactctggcggctgaggacaGcccgtccttctccttgctgc	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000327097.4	+	3	407	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	91					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGAGGACAGCCCGTCCTTC	0.607																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(37-39)aGc>aTc		macrophage receptor with collagenous structure							80	79	79					2																	119727762		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727762G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.272G>T	2.37:g.119727762G>T	ENSP00000318916:p.Ser91Ile					MARCO_ENST00000327097.4_Missense_Mutation_p.S91I	p.S13I			Q9UEW3	MARCO_HUMAN			4	418	+			91	L -> F (in Ref. 2; AAD41064).				B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.38G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691316	0.30052	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90324	-2.65;-2.61	4.22	-4.57	0.03421	.	1.340110	0.04576	N	0.394204	T	0.80555	0.4645	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.33690	0.168	T	0.70699	-0.4800	9	.	.	.	.	5.8173	0.18500	0.5132:0.2672:0.2196:0.0	.	91	Q9UEW3	MARCO_HUMAN	I	91;91;13;13	ENSP00000318916:S91I;ENSP00000441769:S13I	.	S	+	2	0	MARCO	119444232	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.076000	0.03420	-1.039000	0.03275	-0.258000	0.10820	AGC		0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		42	330	1	0	2.47872e-24	1	2.8326e-24	42	330					T	119727762	G	T	119727762	3	4	79	1	0	0	0	0	1	0	0	0	9352	971	34	3	282	3	MARCO	2	119727762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27850	119727762	123471611	2808	13125											
C1QL2	165257	broad.mit.edu	37	chr2	119914429	119914429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtacttgttattattGcctccgtgagccttcccgcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	271	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(811-813)ggC>ggT		complement component 1, q subcomponent-like 2							164	177	173					2																	119914429		2197	4296	6493	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119914429G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.813C>T	2.37:g.119914429G>A		HNSCC(49;0.14)					p.G271G	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1432	-			271			C1q.			Silent	SNP	ENST00000272520.3	37	c.813C>T	CCDS42737.1																																																																																				0.612	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		71	782	0	0	0	1	0	71	782					A	119914429	G	A	119914429	2	1	79	1	0	0	0	0	0	0	0	1	1966	1306	46	2		2	C1QL2	2	119914429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186667	119914429	123284944	2809	13126											
STEAP3	55240	broad.mit.edu	37	chr2	119988594	119988594	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacgtcagccggatgtcGcaccagcctgctgttggtaa	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119988594G>A	ENST00000354888.5	+	0	480				STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393110.2_Silent_p.S2S|STEAP3_ENST00000393108.2_Intron	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627																																						ENST00000393110.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(4-6)tcG>tcA		STEAP family member 3, metalloreductase							69	84	79					2																	119988594		2140	4233	6373	SO:0001623	5_prime_UTR_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:119988594G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.-25G>A	2.37:g.119988594G>A						STEAP3_ENST00000393108.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000393106.2_Intron	p.S2S			Q658P3	STEA3_HUMAN			2	457	+			0					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.6G>A	CCDS2125.1																																																																																				0.627	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	210	0	0	0	1	0	11	210					A	119988594	G	A	119988594	1	1	79	0	1	0	0	0	0	0	0	0	15331	1074	38	1		1	STEAP3	2	119988594	5'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74165	119988594	123210779	2810	13127											
STEAP3	55240	broad.mit.edu	37	chr2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgttccgggagcactactCttcactgtgcagtctcagtg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	97					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(289-291)tCt>tTt		STEAP family member 3, metalloreductase							82	70	74					2																	120003362		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003362C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.290C>T	2.37:g.120003362C>T	ENSP00000346961:p.Ser97Phe					STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F	p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	794	+			97					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.290C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077011	0.55753	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.134765	0.51477	D	0.000091	T	0.62024	0.2394	M	0.78285	2.405	0.43118	D	0.994833	D;P;B	0.63880	0.993;0.952;0.296	D;P;B	0.64506	0.926;0.766;0.13	T	0.64373	-0.6423	9	.	.	.	-31.4585	13.1501	0.59484	0.0:0.8398:0.1602:0.0	.	97;107;97	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	97;97;97;107;97;97;97;97	ENSP00000376820:S97F;ENSP00000346961:S97F;ENSP00000396873:S97F;ENSP00000376822:S107F;ENSP00000376818:S97F;ENSP00000386510:S97F;ENSP00000376819:S97F;ENSP00000396214:S97F	.	S	+	2	0	STEAP3	119719832	0.999000	0.42202	0.986000	0.45419	0.631000	0.37964	3.669000	0.54561	2.576000	0.86940	0.655000	0.94253	TCT		0.572	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		63	148	0	0	0	1	0	63	148					T	120003362	C	T	120003362	3	4	79	1	0	0	0	0	1	0	0	0	15331	913	32	2	326	2	STEAP3	2	120003362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14768	120003362	123196011	2811	13128											
STEAP3	55240	broad.mit.edu	37	chr2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggcaccaagtaccagCgcttccccgactggctggac	13	16	0	0	rs374186156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	290	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGTACCAGCGCTTCCCCGA	0.667																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(868-870)Cgc>Tgc		STEAP family member 3, metalloreductase		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	32	31	31		868,868,898	3.6	0.8	2		31	1,8595		0,1,4297	no	missense,missense,missense	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	290/489,290/489,300/499	120005630	1,13001	2203	4298	6501	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005630C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.868C>T	2.37:g.120005630C>T	ENSP00000346961:p.Arg290Cys					STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C	p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1372	+			290			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.868C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276574	0.80580	0.0	1.16E-4	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	4.49	3.61	0.41365	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.94122	0.7380	9	.	.	.	-30.3131	13.0605	0.59003	0.1616:0.8383:0.0:0.0	.	290;300;290	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	290;290;290;300;290;290;290;290	ENSP00000376820:R290C;ENSP00000346961:R290C;ENSP00000396873:R290C;ENSP00000376822:R300C;ENSP00000376818:R290C;ENSP00000386510:R290C;ENSP00000376819:R290C;ENSP00000396214:R290C	.	R	+	1	0	STEAP3	119722100	1.000000	0.71417	0.836000	0.33094	0.963000	0.63663	4.725000	0.61979	1.107000	0.41642	0.462000	0.41574	CGC		0.667	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	330	0	0	0	1	0	11	330					T	120005630	C	T	120005630	3	4	79	1	0	0	0	0	1	0	0	0	15331	768	27	1	908	1	STEAP3	2	120005630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2268	120005630	123193743	2812	13129											
PCDP1	200373	broad.mit.edu	37	chr2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagcgaagccgaagcctcaGaaggtgaaggtacggtgggc	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000413369.3	+	9	990	c.903G>T	c.(901-903)caG>caT	p.Q301H	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453																																						ENST00000602047.1																			0											c.(43-45)caG>caT									67	73	71					2																	120362359		2203	4300	6503	SO:0001583	missense	0					cilium	calmodulin binding	g.chr2:120362359G>T																												ENST00000413369.3:c.903G>T	2.37:g.120362359G>T	ENSP00000393222:p.Gln301His					PCDP1_ENST00000413369.3_Missense_Mutation_p.Q301H|PCDP1_ENST00000597189.1_3'UTR	p.Q15H			Q4G0U5	PCDP1_HUMAN			10	1157	+	Colorectal(110;0.196)		301						Missense_Mutation	SNP	ENST00000413369.3	37	c.45G>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436252	0.25813	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20200	2.09	5.41	-1.3	0.09259	.	0.785958	0.11282	N	0.580161	T	0.13329	0.0323	L	0.34521	1.04	0.09310	N	1	B;B	0.20261	0.043;0.032	B;B	0.20955	0.032;0.013	T	0.27123	-1.0083	10	0.45353	T	0.12	-0.0024	4.6372	0.12530	0.4275:0.3016:0.2709:0.0	.	145;301	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	H	15;301	ENSP00000393222:Q301H	ENSP00000295220:Q15H	Q	+	3	2	AC069154.2	120078829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.360000	0.08138	-0.302000	0.09304	CAG		0.453	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			115	275	1	0	8.29381e-57	1	1.03815e-56	115	275					T	120362359	G	T	120362359	3	4	79	1	0	0	0	0	1	0	0	0	11614	933	33	3	47	3	PCDP1	2	120362359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356729	120362359	122837014	2813	13130											
PCDP1	200373	broad.mit.edu	37	chr2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattattcccggaataatgCactggaaaagcttccagtcc	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000413369.3	+	21	2242	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468																																						ENST00000602047.1																			0											c.(1297-1299)Cac>Tac									90	89	89					2																	120397378		2203	4300	6503	SO:0001583	missense	0					cilium	calmodulin binding	g.chr2:120397378C>T																												ENST00000413369.3:c.2155C>T	2.37:g.120397378C>T	ENSP00000393222:p.His719Tyr					PCDP1_ENST00000413369.3_Missense_Mutation_p.H719Y	p.H433Y			Q4G0U5	PCDP1_HUMAN			22	2409	+	Colorectal(110;0.196)		719						Missense_Mutation	SNP	ENST00000413369.3	37	c.1297C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375058	0.24857	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.13778	2.56	5.31	-2.63	0.06133	.	0.986712	0.08280	N	0.970138	T	0.07999	0.0200	N	0.14661	0.345	0.80722	D	1	P	0.45902	0.868	B	0.40134	0.32	T	0.37979	-0.9682	10	0.52906	T	0.07	-6.2867	9.6969	0.40163	0.7274:0.191:0.0:0.0816	.	719	Q4G0U5	PCDP1_HUMAN	Y	433;719	ENSP00000393222:H719Y	ENSP00000295220:H433Y	H	+	1	0	AC069154.2	120113848	0.747000	0.28283	0.977000	0.42913	0.208000	0.24298	-0.334000	0.07883	-0.266000	0.09339	0.655000	0.94253	CAC		0.468	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			51	160	0	0	0	1	0	51	160					T	120397378	C	T	120397378	3	4	79	1	0	0	0	0	1	0	0	0	11614	710	25	2	1347	2	PCDP1	2	120397378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35019	120397378	122801995	2814	13131											
TMEM177	80775	broad.mit.edu	37	chr2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctggaccgccgcacgGcctccctctctgcagcctat	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000424086.1	+	2	1179	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	236						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(706-708)Gcc>Acc		transmembrane protein 177							54	51	52					2																	120439135		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439135G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.706G>A	2.37:g.120439135G>A	ENSP00000402661:p.Ala236Thr					TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T	p.A236T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	1179	+	Colorectal(110;0.196)		236					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.706G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414262	0.62511	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.51574	0.7;0.7;0.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75357	-0.3346	10	0.87932	D	0	-1.1583	15.7392	0.77876	0.0:0.0:1.0:0.0	.	236	Q53S58	TM177_HUMAN	T	236;236;236;203	ENSP00000385966:A236T;ENSP00000402661:A236T;ENSP00000272521:A236T	ENSP00000272521:A236T	A	+	1	0	TMEM177	120155605	1.000000	0.71417	0.482000	0.27366	0.050000	0.14768	9.037000	0.93765	2.402000	0.81655	0.549000	0.68633	GCC		0.617	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		38	335	0	0	0	1	0	38	335					A	120439135	G	A	120439135	3	1	79	1	0	0	0	0	1	0	0	0	16146	1203	42	2	708	2	TMEM177	2	120439135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41757	120439135	122760238	2815	13132											
PTPN4	5775	broad.mit.edu	37	chr2	120692377	120692377	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctccctctttatttagtCgaaattctacattcacgcag	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.e15-1		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						84	78	80					2																	120692377		2203	4300	6503	SO:0001630	splice_region_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692377C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1197-1C>T	2.37:g.120692377C>T						PTPN4_ENST00000544261.1_Splice_Site_p.R33_splice	p.R400_splice	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	1969	+			400					B2RBV8|Q9UDA7	Splice_Site	SNP	ENST00000263708.2	37	c.1196_splice	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167818	0.94768	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	400;33;26	.	ENSP00000263708:R400X	R	+	1	2	PTPN4	120408847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.890000	0.99128	0.650000	0.86243	CGA		0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		Nonsense_Mutation	17	184	0	0	0	1	0	17	184					T	120692377	C	T	120692377	5	4	79	1	0	0	0	0	0	0	1	0	12840	898	31	1	1252	1	PTPN4	2	120692377	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253242	120692377	122506996	2816	13133											
PTPN4	5775	broad.mit.edu	37	chr2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatatggttcatacttccCcaagcgaagtgtttgtaaat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	428					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1282-1284)Cca>Tca		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						144	128	133					2																	120692461		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692461C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1282C>T	2.37:g.120692461C>T	ENSP00000263708:p.Pro428Ser					PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	p.P428S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	2053	+			428					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1282C>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317165	0.81469	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.56103	0.48;0.48;0.48	5.75	3.88	0.44766	.	0.046193	0.85682	D	0.000000	T	0.42268	0.1195	L	0.34521	1.04	0.50171	D	0.99985	B	0.25667	0.131	B	0.25140	0.058	T	0.26916	-1.0089	10	0.45353	T	0.12	.	13.0295	0.58835	0.129:0.747:0.1239:0.0	.	428	P29074	PTN4_HUMAN	S	428;61;54	ENSP00000263708:P428S;ENSP00000445841:P61S;ENSP00000387457:P54S	ENSP00000263708:P428S	P	+	1	0	PTPN4	120408931	0.999000	0.42202	0.756000	0.31282	0.979000	0.70002	4.104000	0.57790	0.828000	0.34709	0.650000	0.86243	CCA		0.413	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			96	247	0	0	0	1	0	96	247					T	120692461	C	T	120692461	3	4	79	1	0	0	0	0	1	0	0	0	12840	623	22	2	1336	2	PTPN4	2	120692461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	120692461	122506912	2817	13134											
PTPN4	5775	broad.mit.edu	37	chr2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggccattaccacacaCttgtacagatttttggcaga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	733	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(2197-2199)aCt>aAt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						160	142	148					2																	120718447		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120718447C>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2198C>A	2.37:g.120718447C>A	ENSP00000263708:p.Thr733Asn					PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	p.T733N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			23	2969	+			733			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2198C>A	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978412|4.978412	0.92982|0.92982	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|D;D	0.14022|0.89552	2.54|-2.53;-2.53	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97660|0.97660	0.9233|0.9233	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.99081|0.99081	1.0837|1.0837	7|10	0.72032|0.87932	D|D	0.01|0	.|.	20.0119|20.0119	0.97458|0.97458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733	.|P29074	.|PTN4_HUMAN	Q|N	16|733;366	ENSP00000394706:H16Q|ENSP00000263708:T733N;ENSP00000445841:T366N	ENSP00000394706:H16Q|ENSP00000263708:T733N	H|T	+|+	3|2	2|0	PTPN4|PTPN4	120434917|120434917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.734000|7.734000	0.84928|0.84928	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			63	518	1	0	5.08636e-23	1	5.77245e-23	63	518					A	120718447	C	A	120718447	3	1	79	1	0	0	0	0	1	0	0	0	12840	565	20	3	2284	3	PTPN4	2	120718447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25986	120718447	122480926	2818	13135											
EPB41L5	57669	broad.mit.edu	37	chr2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggatgctgccacaaAcaggtacagttctgggtaga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	597					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCTGCCACAAACAGGTACAGT	0.318																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1789-1791)aAc>aGc		erythrocyte membrane protein band 4.1 like 5							53	54	54					2																	120903862		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120903862A>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1790A>G	2.37:g.120903862A>G	ENSP00000263713:p.Asn597Ser					EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			20	2004	+			597					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1790A>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593401	0.13875	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.4;-1.41;-1.4	4.9	2.35	0.29111	.	0.412471	0.25132	N	0.032889	T	0.68403	0.2997	L	0.46157	1.445	0.26220	N	0.979165	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.51252	-0.8729	10	0.20519	T	0.43	.	4.7015	0.12828	0.7389:0.0:0.0943:0.1668	.	597;597;597	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	S	597	ENSP00000263713:N597S;ENSP00000393856:N597S;ENSP00000390439:N597S	ENSP00000263713:N597S	N	+	2	0	EPB41L5	120620332	0.825000	0.29262	0.974000	0.42286	0.797000	0.45037	0.573000	0.23699	0.359000	0.24239	0.397000	0.26171	AAC		0.318	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		8	140	0	0	0	1	0	8	140					G	120903862	A	G	120903862	3	3	79	1	0	0	0	0	1	0	0	0	5175	43	2	4	2049	4	EPB41L5	2	120903862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	185415	120903862	122295511	2819	13136											
RALB	5899	broad.mit.edu	37	chr2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtctgacctagaggagCggaggcaggtgcctgtggag	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W|RALB_ENST00000404963.3_Missense_Mutation_p.R156W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	135					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(403-405)Cgg>Tgg		v-ral simian leukemia viral oncogene homolog B							106	110	109					2																	121047235		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121047235C>T		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.403C>T	2.37:g.121047235C>T	ENSP00000272519:p.Arg135Trp					RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000420510.1_Missense_Mutation_p.R135W	p.R135W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			4	673	+		Prostate(154;0.122)	135					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.403C>T	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757807	0.89843	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.4	4.48	0.54585	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.68765	0.96;0.948;0.942	D	0.85333	0.1091	10	0.87932	D	0	.	13.5281	0.61607	0.274:0.726:0.0:0.0	.	157;156;135	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	W	157;157;135;135;156;135	ENSP00000402866:R157W;ENSP00000438764:R157W;ENSP00000272519:R135W;ENSP00000414224:R135W;ENSP00000384328:R156W;ENSP00000398162:R135W	ENSP00000272519:R135W	R	+	1	2	RALB	120763705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	2.813000	0.96785	0.561000	0.74099	CGG		0.547	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		63	516	0	0	0	1	0	63	516					T	121047235	C	T	121047235	3	4	79	1	0	0	0	0	1	0	0	0	13061	759	27	1	413	1	RALB	2	121047235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143373	121047235	122152138	2820	13137											
GLI2	2736	broad.mit.edu	37	chr2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagaccccagctctctcCggaagcatgtgaaaacggtc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1744-1746)Cgg>Tgg		GLI family zinc finger 2							169	168	169					2																	121742107		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742107C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1744C>T	2.37:g.121742107C>T	ENSP00000390436:p.Arg582Trp					GLI2_ENST00000314490.11_Missense_Mutation_p.R254W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R582W	p.R582W			P10070	GLI2_HUMAN			12	1804	+	Renal(3;0.0496)	Prostate(154;0.0623)	582						Missense_Mutation	SNP	ENST00000452319.1	37	c.1744C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169755	0.78452	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.53640	0.61;0.61;0.61	4.48	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.52905	1.665	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	T	0.62450	-0.6852	10	0.87932	D	0	.	9.9524	0.41647	0.4156:0.5844:0.0:0.0	.	582;565;237;237;254	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	582;582;254	ENSP00000390436:R582W;ENSP00000354586:R582W;ENSP00000312694:R254W	ENSP00000312694:R254W	R	+	1	2	GLI2	121458577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.261000	0.58841	2.309000	0.77851	0.561000	0.74099	CGG		0.577	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		125	984	0	0	0	1	0	125	984					T	121742107	C	T	121742107	3	4	79	1	0	0	0	0	1	0	0	0	6467	643	23	1	1786	1	GLI2	2	121742107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	694872	121742107	121457266	2821	13138											
GLI2	2736	broad.mit.edu	37	chr2	121743937	121743937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccaacaatgacagtggCgtggagatgccggggacggg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2038-2040)ggC>ggT		GLI family zinc finger 2							34	42	39					2																	121743937		2203	4299	6502	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121743937C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2040C>T	2.37:g.121743937C>T						GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.G680G	p.G680G			P10070	GLI2_HUMAN			13	2100	+	Renal(3;0.0496)	Prostate(154;0.0623)	680						Silent	SNP	ENST00000452319.1	37	c.2040C>T	CCDS33283.1																																																																																				0.711	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		19	344	0	0	0	1	0	19	344					T	121743937	C	T	121743937	2	4	79	1	0	0	0	0	0	0	0	1	6467	755	27	1		1	GLI2	2	121743937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1830	121743937	121455436	2822	13139											
GLI2	2736	broad.mit.edu	37	chr2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggtggcctccagctgCgcaaacacatgaccaccatg	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2158-2160)Cgc>Tgc		GLI family zinc finger 2							60	57	58					2																	121744055		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744055C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2158C>T	2.37:g.121744055C>T	ENSP00000390436:p.Arg720Cys					GLI2_ENST00000314490.11_Missense_Mutation_p.R392C|GLI2_ENST00000361492.4_Missense_Mutation_p.R720C	p.R720C			P10070	GLI2_HUMAN			13	2218	+	Renal(3;0.0496)	Prostate(154;0.0623)	720						Missense_Mutation	SNP	ENST00000452319.1	37	c.2158C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		18	242	0	0	0	1	0	18	242					T	121744055	C	T	121744055	3	4	79	1	0	0	0	0	1	0	0	0	6467	768	27	1	2204	1	GLI2	2	121744055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	121744055	121455318	2823	13140											
TFCP2L1	29842	broad.mit.edu	37	chr2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtcccacaaaaactCgactgcattcagctgggtcg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(460-462)Gag>Aag		transcription factor CP2-like 1							66	62	63					2																	122005784		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122005784C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.460G>A	2.37:g.122005784C>T	ENSP00000263707:p.Glu154Lys						p.E154K	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			5	557	-	Renal(3;0.01)		154					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.460G>A	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	TFCP2L1	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG		0.547	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		13	137	0	0	0	1	0	13	137					T	122005784	C	T	122005784	3	4	79	1	0	0	0	0	1	0	0	0	15848	893	31	1	1023	1	TFCP2L1	2	122005784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261729	122005784	121193589	2824	13141											
CLASP1	23332	broad.mit.edu	37	chr2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgacctgtactacagGtacatcatcaaatgctttaa	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000263710.4	-	10	1317	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	310					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTACTACAGGTACATCATCA	0.313																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(928-930)Cct>Tct		cytoplasmic linker associated protein 1							83	80	81					2																	122220119		1851	4101	5952	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122220119G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.928C>T	2.37:g.122220119G>A	ENSP00000263710:p.Pro310Ser					CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000430234.1_5'UTR	p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			10	1317	-	Renal(3;0.0496)		310					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.928C>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459774	0.84317	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.15;1.96;1.97;1.94;0.65;1.97;0.5;-0.19	5.13	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.49559	0.877;0.925;0.9;0.917	B;P;B;P	0.47075	0.335;0.536;0.412;0.521	T	0.76274	-0.3019	10	0.87932	D	0	-0.6289	17.2951	0.87168	0.0:0.0:1.0:0.0	.	310;310;310;310	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	310;310;310;310;79;310;78;79;79	ENSP00000263710:P310S;ENSP00000389372:P310S;ENSP00000380717:P310S;ENSP00000441625:P310S;ENSP00000441770:P79S;ENSP00000386442:P310S;ENSP00000392886:P79S;ENSP00000402101:P79S	ENSP00000263710:P310S	P	-	1	0	CLASP1	121936589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.990000	0.76225	2.824000	0.97209	0.655000	0.94253	CCT		0.313	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		22	46	0	0	0	1	0	22	46					A	122220119	G	A	122220119	3	1	79	1	0	0	0	0	1	0	0	0	3463	1261	44	2	3864	2	CLASP1	2	122220119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214335	122220119	120979254	2825	13142											
MKI67IP	84365	broad.mit.edu	37	chr2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagttgttcattgtttcaGcaactattttggcaacatcc	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		103	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CATTGTTTCAGCAACTATTTT	0.463																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(307-309)gCt>gAt									95	84	88					2																	122489716		2203	4300	6503	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122489716G>T																												ENST00000285814.4:c.308C>A	2.37:g.122489716G>T	ENSP00000285814:p.Ala103Asp						p.A103D	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			3	380	-			103			RRM.		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.308C>A	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165049	0.78339	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.16457	2.34;2.34	5.14	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048198	0.85682	D	0.000000	T	0.51415	0.1673	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63528	-0.6617	10	0.87932	D	0	-17.7292	11.7232	0.51693	0.0:0.1781:0.8219:0.0	.	103;103	B4DSM4;Q9BYG3	.;MK67I_HUMAN	D	103;103;71	ENSP00000285814:A103D;ENSP00000398116:A71D	ENSP00000285814:A103D	A	-	2	0	MKI67IP	122206186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	1.153000	0.42468	0.655000	0.94253	GCT		0.463	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			27	340	1	0	2.85442e-18	1	3.16582e-18	27	340					T	122489716	G	T	122489716	3	4	79	1	0	0	0	0	1	0	0	0	9640	971	34	3	593	3	MKI67IP	2	122489716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269597	122489716	120709657	2826	13143											
TSN	7247	broad.mit.edu	37	chr2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagtcgaggctgtctgTcaacagcgtgactgctggag	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000389682.3	+	6	714	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000409193.1_Missense_Mutation_p.V151A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	156					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.(466-468)gTc>gCc		translin							235	238	237					2																	122522723		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122522723T>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"recombination hotspot associated factor"	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.467T>C	2.37:g.122522723T>C	ENSP00000374332:p.Val156Ala					TSN_ENST00000409193.1_Missense_Mutation_p.V151A|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C	p.V156A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			6	714	+		Ovarian(717;0.0563)|Prostate(154;0.116)	156					B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.467T>C	CCDS33284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436439|4.436439	0.83885|0.83885	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.055540	.|0.64402	.|D	.|0.000001	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.99;0.995	D|D	0.87835|0.87835	0.2647|0.2647	5|9	.|0.72032	.|D	.|0.01	-3.0948|-3.0948	15.3851|15.3851	0.74691|0.74691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109;156	.|B3KRM8;Q15631	.|.;TSN_HUMAN	P|A	162|156;122;151	.|.	.|ENSP00000374332:V156A	S|V	+|+	1|2	0|0	TSN|TSN	122239193|122239193	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.766000|0.766000	0.43426|0.43426	7.675000|7.675000	0.84002|0.84002	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.512	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		159	1481	0	0	0	1	0	159	1481					C	122522723	T	C	122522723	3	2	79	1	0	0	0	0	1	0	0	0	16682	1667	58	4	489	4	TSN	2	122522723	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33007	122522723	120676650	2827	13144											
CNTNAP5	129684	broad.mit.edu	37	chr2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaatggattctttaccaCggctgaccagcgttttgact	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_ENST00000423939.2_3'UTR|AC079154.1_ENST00000438816.1_RNA	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TTCTTTACCACGGCTGACCAG	0.552																																						ENST00000431078.1																			0				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						c.(16-18)Cgg>Tgg		contactin associated protein-like 5							122	127	125					2																	124783243		2001	4165	6166	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124783243C>T	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.16C>T	2.37:g.124783243C>T	ENSP00000399013:p.Arg6Trp					CNTNAP5_ENST00000423939.2_3'UTR	p.R6W	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	1	380	+			6					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.16C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707496	0.48412	.	.	ENSG00000155052	ENST00000431078	D	0.88277	-2.36	5.29	-3.8	0.04307	.	1.453780	0.04752	N	0.424658	T	0.81517	0.4839	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65158	-0.6236	10	0.87932	D	0	.	1.4909	0.02456	0.3287:0.3394:0.1712:0.1607	.	6	Q8WYK1	CNTP5_HUMAN	W	6	ENSP00000399013:R6W	ENSP00000399013:R6W	R	+	1	2	CNTNAP5	124499713	0.000000	0.05858	0.818000	0.32626	0.957000	0.61999	-1.557000	0.02166	-0.327000	0.08551	-0.268000	0.10319	CGG		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			36	309	0	0	0	1	0	36	309					T	124783243	C	T	124783243	3	4	79	1	0	0	0	0	1	0	0	0	3659	527	19	1	18	1	CNTNAP5	2	124783243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2260520	124783243	118416130	2828	13145											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctcttacctccactTtcctaccttccatgcggaat	5	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	804	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TACCTCCACTTTCCTACCTTC	0.413																																						ENST00000431078.1																			0				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						c.(2410-2412)tTt>tGt		contactin associated protein-like 5							133	125	128					2																	125521605		1843	4093	5936	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521605T>G	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.2411T>G	2.37:g.125521605T>G	ENSP00000399013:p.Phe804Cys						p.F804C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2775	+			804			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2411T>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356243	0.82243	.	.	ENSG00000155052	ENST00000431078	T	0.45276	0.9	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000074	T	0.69314	0.3097	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.78902	-0.2021	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.0:0.0:1.0	.	804	Q8WYK1	CNTP5_HUMAN	C	804	ENSP00000399013:F804C	ENSP00000399013:F804C	F	+	2	0	CNTNAP5	125238075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.927000	0.87577	2.263000	0.75096	0.533000	0.62120	TTT		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			136	309	0	0	0	1	0	136	309					G	125521605	T	G	125521605	3	3	79	1	0	0	0	0	1	0	0	0	3659	1841	64	4	2473	4	CNTNAP5	2	125521605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	738362	125521605	117677768	2829	13146											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530375	125530375	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcctttccggtttcaGctccttcagagatcaccttt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		TCCGGTTTCAGCTCCTTCAGA	0.458																																						ENST00000431078.1																			0				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						c.e17-1		contactin associated protein-like 5							141	129	133					2																	125530375		1932	4129	6061	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530375G>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.2531-1G>A	2.37:g.125530375G>A								NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2894	+								Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37		CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454110	0.84209	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246845	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.304000	0.96190	2.594000	0.87642	0.645000	0.84053	.		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron	72	196	0	0	0	1	0	72	196					A	125530375	G	A	125530375	5	1	79	1	0	0	0	0	0	0	1	0	3659	985	34	2	2596	2	CNTNAP5	2	125530375	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8770	125530375	117668998	2830	13147											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagatcacctttgccatcGatgttgggaatggtcctgtg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	853	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		CTTTGCCATCGATGTTGGGAA	0.502																																						ENST00000431078.1																			0				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						c.(2557-2559)Gat>Aat		contactin associated protein-like 5							171	158	162					2																	125530402		1929	4132	6061	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530402G>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.2557G>A	2.37:g.125530402G>A	ENSP00000399013:p.Asp853Asn						p.D853N	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2921	+			853			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2557G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077372	0.76415	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000169	D	0.86606	0.5973	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85406	0.1134	10	0.41790	T	0.15	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	853	Q8WYK1	CNTP5_HUMAN	N	853	ENSP00000399013:D853N	ENSP00000399013:D853N	D	+	1	0	CNTNAP5	125246872	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	GAT		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			89	269	0	0	0	1	0	89	269					A	125530402	G	A	125530402	3	1	79	1	0	0	0	0	1	0	0	0	3659	1058	37	1	2623	1	CNTNAP5	2	125530402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	125530402	117668971	2831	13148											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttctgctgtttttgaggCtggcacgtcggttacttaca	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1004					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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)		GTTTTTGAGGCTGGCACGTCG	0.428																																						ENST00000431078.1																			0				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						c.(3010-3012)gCt>gAt		contactin associated protein-like 5							68	65	66					2																	125555694		1909	4114	6023	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555694C>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.3011C>A	2.37:g.125555694C>A	ENSP00000399013:p.Ala1004Asp						p.A1004D	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3375	+			1004					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3011C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427269	0.25726	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.93	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.132089	0.33364	N	0.004998	T	0.61540	0.2355	N	0.21194	0.64	0.09310	N	1	B	0.33583	0.418	B	0.24006	0.05	T	0.53322	-0.8455	10	0.45353	T	0.12	.	11.7401	0.51788	0.0:0.8584:0.0:0.1416	.	1004	Q8WYK1	CNTP5_HUMAN	D	1004	ENSP00000399013:A1004D	ENSP00000399013:A1004D	A	+	2	0	CNTNAP5	125272164	0.057000	0.20700	0.739000	0.30968	0.641000	0.38312	0.819000	0.27308	0.851000	0.35264	-0.136000	0.14681	GCT		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			31	86	1	0	3.1745e-13	1	3.424e-13	31	86					A	125555694	C	A	125555694	3	1	79	1	0	0	0	0	1	0	0	0	3659	797	28	3	3085	3	CNTNAP5	2	125555694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25292	125555694	117643679	2832	13149											
CYP27C1	339761	broad.mit.edu	37	chr2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggaggtcttgaacatgCtaaacatgagctccagggcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	93						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.(277-279)aGc>aAc		cytochrome P450, family 27, subfamily C, polypeptide 1							116	115	116					2																	127958808		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127958808C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.278G>A	2.37:g.127958808C>T	ENSP00000334128:p.Ser93Asn					CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	3	408	-	Colorectal(110;0.1)		93					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.278G>A	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943301	0.73672	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69175	-0.38;-0.38	3.74	3.74	0.42951	.	0.047866	0.85682	D	0.000000	T	0.62466	0.2430	N	0.20845	0.615	0.44852	D	0.997866	D	0.56287	0.975	P	0.52856	0.711	T	0.65340	-0.6192	10	0.39692	T	0.17	-15.14	15.8937	0.79322	0.0:1.0:0.0:0.0	.	93	Q4G0S4	C27C1_HUMAN	N	93	ENSP00000334128:S93N;ENSP00000387198:S93N	ENSP00000334128:S93N	S	-	2	0	CYP27C1	127675278	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	6.364000	0.73086	1.797000	0.52628	0.561000	0.74099	AGC		0.562	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		101	541	0	0	0	1	0	101	541					T	127958808	C	T	127958808	3	4	79	1	0	0	0	0	1	0	0	0	4171	797	28	2	864	2	CYP27C1	2	127958808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2403114	127958808	115240565	2833	13150											
ERCC3	2071	broad.mit.edu	37	chr2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttagtttgtactcatgcaCatgggttggtcggcacactg	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000285398.2	-	3	431	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	113					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACTCATGCACATGGGTTGGT	0.507			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(145-147)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							117	103	108					2																	128050320		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050320C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.337G>A	2.37:g.128050320C>T	ENSP00000285398:p.Val113Met					ERCC3_ENST00000285398.2_Missense_Mutation_p.V113M	p.V49M			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	608	-	Colorectal(110;0.1)		113					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.145G>A	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085569	0.36758	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74002	-0.8;-0.8	4.77	4.77	0.60923	.	0.307501	0.31847	N	0.006968	T	0.56016	0.1957	N	0.21194	0.64	0.33026	D	0.529526	B	0.18461	0.028	B	0.22386	0.039	T	0.57159	-0.7859	10	0.24483	T	0.36	-26.3485	5.6572	0.17648	0.0:0.7656:0.0:0.2344	.	113	P19447	ERCC3_HUMAN	M	113;49	ENSP00000285398:V113M;ENSP00000444796:V49M	ENSP00000285398:V113M	V	-	1	0	ERCC3	127766790	0.416000	0.25424	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	2.475000	0.83589	0.650000	0.86243	GTG		0.507	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		91	293	0	0	0	1	0	91	293					T	128050320	C	T	128050320	3	4	79	1	0	0	0	0	1	0	0	0	5232	478	17	2	2063	2	ERCC3	2	128050320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91512	128050320	115149053	2834	13151											
MAP3K2	10746	broad.mit.edu	37	chr2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctcagtttggcctctAcaaaaatccgtttgaggaaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TTTGGCCTCTACAAAAATCCG	0.473																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1795-1797)gTa>gCa		mitogen-activated protein kinase kinase kinase 2							60	62	62					2																	128065219		2035	4203	6238	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128065219A>G	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1796T>C	2.37:g.128065219A>G	ENSP00000387246:p.Val599Ala					MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A	p.V599A			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	17	2078	-	Colorectal(110;0.1)		599			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.1796T>C	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683960	0.47991	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63744	-0.06;-0.06	5.7	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000006	T	0.49745	0.1575	L	0.42008	1.315	0.39428	D	0.967031	B	0.15473	0.013	B	0.16722	0.016	T	0.40590	-0.9555	10	0.13108	T	0.6	.	9.7683	0.40574	0.8608:0.0:0.1392:0.0	.	599	Q9Y2U5	M3K2_HUMAN	A	599	ENSP00000387246:V599A;ENSP00000343463:V599A	ENSP00000343463:V599A	V	-	2	0	MAP3K2	127781689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.321000	0.65846	1.091000	0.41335	0.528000	0.53228	GTA		0.473	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		11	41	0	0	0	1	0	11	41					G	128065219	A	G	128065219	3	3	79	1	0	0	0	0	1	0	0	0	9291	391	14	4	67	4	MAP3K2	2	128065219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14899	128065219	115134154	2835	13152											
MAP3K2	10746	broad.mit.edu	37	chr2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtccaagtcatcttgaGtagttaatggaattaccaac	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	95	OPR.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTCATCTTGAGTAGTTAATGG	0.383																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(283-285)aCt>aTt		mitogen-activated protein kinase kinase kinase 2							69	62	65					2																	128088062		1882	4122	6004	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128088062G>A	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.284C>T	2.37:g.128088062G>A	ENSP00000387246:p.Thr95Ile					MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I	p.T95I			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	6	566	-	Colorectal(110;0.1)		95			OPR.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.284C>T	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813786	0.90790	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23552	1.9;1.9	6.07	6.07	0.98685	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.47716	1.5	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	T	0.03630	-1.1018	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	95	Q9Y2U5	M3K2_HUMAN	I	95	ENSP00000387246:T95I;ENSP00000343463:T95I	ENSP00000343463:T95I	T	-	2	0	MAP3K2	127804532	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.177000	0.77650	2.890000	0.99128	0.585000	0.79938	ACT		0.383	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		22	82	0	0	0	1	0	22	82					A	128088062	G	A	128088062	3	1	79	1	0	0	0	0	1	0	0	0	9291	1029	36	2	1623	2	MAP3K2	2	128088062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22843	128088062	115111311	2836	13153											
PROC	5624	broad.mit.edu	37	chr2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcgactggatccatgggCacatcagagacaaggaagcc	11	12	1	1	rs368520760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000234071.3	+	9	1429	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y	PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1507-1509)Cac>Tac		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	C	TYR/HIS	1,4405		0,1,2202	87	87	87		1342	2.2	0.1	2		87	0,8600		0,0,4300	no	missense	PROC	NM_000312.3	83	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/462	128186478	1,13005	2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186478C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1342C>T	2.37:g.128186478C>T	ENSP00000234071:p.His448Tyr					PROC_ENST00000409048.1_Missense_Mutation_p.H482Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000234071.3_Missense_Mutation_p.H448Y	p.H503Y			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1515	+	Colorectal(110;0.1)		448					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1507C>T	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500767	0.00157	2.27E-4	0.0	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.95	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.160062	0.30043	N	0.010543	T	0.78541	0.4299	N	0.16833	0.445	0.22081	N	0.999379	B;B;B;B	0.19200	0.034;0.002;0.003;0.002	B;B;B;B	0.15052	0.012;0.002;0.005;0.002	T	0.62511	-0.6839	10	0.02654	T	1	.	4.0811	0.09927	0.2647:0.5:0.0:0.2353	.	503;504;482;448	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	Y	448;407;503;482;448	ENSP00000234071:H448Y;ENSP00000404030:H503Y;ENSP00000386679:H482Y;ENSP00000409543:H448Y	ENSP00000234071:H448Y	H	+	1	0	PROC	127902948	0.020000	0.18652	0.120000	0.21714	0.004000	0.04260	0.079000	0.14782	0.280000	0.22209	0.655000	0.94253	CAC		0.592	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		183	609	0	0	0	1	0	183	609					T	128186478	C	T	128186478	3	4	79	1	0	0	0	0	1	0	0	0	12592	710	25	2	1372	2	PROC	2	128186478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98416	128186478	115012895	2837	13154											
IWS1	55677	broad.mit.edu	37	chr2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcttaaggtgcataactAcagcaggcagtaaagttaat	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	594	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1780-1782)gTa>gCa		IWS1 homolog (S. cerevisiae)							77	84	81					2																	128252466		2201	4287	6488	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128252466A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1781T>C	2.37:g.128252466A>G	ENSP00000295321:p.Val594Ala					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	p.V594A	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	8	2040	-	Colorectal(110;0.1)		594					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1781T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198746	0.79015	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.18016	2.24	5.82	5.82	0.92795	.	0.118708	0.56097	D	0.000027	T	0.38188	0.1031	M	0.71036	2.16	0.80722	D	1	P	0.51537	0.946	P	0.57720	0.826	T	0.11372	-1.0590	10	0.59425	D	0.04	-19.5794	16.1809	0.81898	1.0:0.0:0.0:0.0	.	594	Q96ST2	IWS1_HUMAN	A	594;547	ENSP00000295321:V594A	ENSP00000295321:V594A	V	-	2	0	IWS1	127968936	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	GTA		0.284	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		34	266	0	0	0	1	0	34	266					G	128252466	A	G	128252466	3	3	79	1	0	0	0	0	1	0	0	0	7961	391	14	4	706	4	IWS1	2	128252466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65988	128252466	114946907	2838	13155											
IWS1	55677	broad.mit.edu	37	chr2	128261063	128261063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctcactgtcagatgCtatggtcttctctcttttgc	6	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128261063C>A	ENST00000295321.4	-	4	1568	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	IWS1_ENST00000455721.2_Missense_Mutation_p.A444S|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	437	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCAGATGCTATGGTCTTC	0.428																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1309-1311)Gca>Tca		IWS1 homolog (S. cerevisiae)							164	146	152					2																	128261063		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128261063C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1309G>T	2.37:g.128261063C>A	ENSP00000295321:p.Ala437Ser					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.A444S	p.A437S	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	4	1568	-	Colorectal(110;0.1)		437			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1309G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910644	0.17833	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.34072	2.36;1.38	5.43	5.43	0.79202	.	0.325059	0.28225	N	0.016140	T	0.17152	0.0412	L	0.28274	0.84	0.27288	N	0.957924	P	0.46512	0.879	B	0.32677	0.15	T	0.14392	-1.0474	10	0.09084	T	0.74	-17.201	8.5868	0.33664	0.1526:0.7712:0.0:0.0762	.	437	Q96ST2	IWS1_HUMAN	S	437;390;444	ENSP00000295321:A437S;ENSP00000399245:A444S	ENSP00000295321:A437S	A	-	1	0	IWS1	127977533	0.826000	0.29277	0.932000	0.37286	0.290000	0.27261	2.013000	0.40942	2.560000	0.86352	0.655000	0.94253	GCA		0.428	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		18	599	1	0	5.3912e-06	1	5.54037e-06	18	599					A	128261063	C	A	128261063	3	1	79	1	0	0	0	0	1	0	0	0	7961	797	28	3	1194	3	IWS1	2	128261063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8597	128261063	114938310	2839	13156											
MYO7B	4648	broad.mit.edu	37	chr2	128366289	128366289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggtatgcaggcgccgCtggtcatcccggccgagggg	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000409816.2	+	21	2682	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000389524.4_Silent_p.L884L|MYO7B_ENST00000428314.1_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	884	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGGCGCCGCTGGTCATCCC	0.657																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2650-2652)Ctg>Ttg		myosin VIIB							24	27	26					2																	128366289		2005	4153	6158	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366289C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2650C>T	2.37:g.128366289C>T						MYO7B_ENST00000428314.1_Silent_p.L884L|MYO7B_ENST00000409816.2_Silent_p.L884L	p.L884L			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	22	2703	+	Colorectal(110;0.1)		884			IQ 6.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2650C>T	CCDS46405.1																																																																																				0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		37	121	0	0	0	1	0	37	121					T	128366289	C	T	128366289	2	4	79	1	0	0	0	0	0	0	0	1	10124	796	28	2		2	MYO7B	2	128366289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105226	128366289	114833084	2840	13157											
MYO7B	4648	broad.mit.edu	37	chr2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcacaagcagggcctcaGcgaccacctgggcttctccc	10	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000409816.2	+	27	3730	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1233	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGGGCCTCAGCGACCACCTG	0.627																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3697-3699)aGc>aTc		myosin VIIB							54	63	60					2																	128380907		2143	4243	6386	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128380907G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3698G>T	2.37:g.128380907G>T	ENSP00000386461:p.Ser1233Ile					MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|MYO7B_ENST00000409816.2_Missense_Mutation_p.S1233I|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I	p.S1233I			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	28	3751	+	Colorectal(110;0.1)		1233			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3698G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025394	0.35701	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.82	-5.52	0.02560	Band 4.1 domain (1);FERM domain (1);	0.720633	0.13276	N	0.400116	T	0.61553	0.2356	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52026	-0.8630	10	0.62326	D	0.03	.	6.6697	0.23062	0.4751:0.3805:0.1445:0.0	.	1233	Q6PIF6	MYO7B_HUMAN	I	1233;1233;86;1233;86;86	ENSP00000374175:S1233I;ENSP00000415090:S1233I;ENSP00000386461:S1233I;ENSP00000404927:S86I;ENSP00000386850:S86I	ENSP00000272666:S86I	S	+	2	0	MYO7B	128097377	0.025000	0.19082	0.016000	0.15963	0.778000	0.44026	0.407000	0.21049	-0.967000	0.03582	0.491000	0.48974	AGC		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		24	131	1	0	1.10923e-09	1	1.16946e-09	24	131					T	128380907	G	T	128380907	3	4	79	1	0	0	0	0	1	0	0	0	10124	971	34	3	3804	3	MYO7B	2	128380907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14618	128380907	114818466	2841	13158											
MYO7B	4648	broad.mit.edu	37	chr2	128389839	128389839	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacagcgaagagcggggCtggcagctgctgtggctgtg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	ENST00000409816.2	+	37	5222	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	MYO7B_ENST00000389524.4_Silent_p.G1731G|MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000409090.1_Silent_p.G583G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1730	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGAGCGGGGCTGGCAGCTGC	0.672																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5191-5193)ggC>ggA		myosin VIIB							13	17	16					2																	128389839		1894	4101	5995	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389839C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5190C>A	2.37:g.128389839C>A						MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000409816.2_Silent_p.G1730G|MYO7B_ENST00000409090.1_Silent_p.G583G	p.G1731G			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	38	5246	+	Colorectal(110;0.1)		1730			MyTH4 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.5193C>A	CCDS46405.1																																																																																				0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	220	1	0	0.000274275	1	0.000278163	8	220					A	128389839	C	A	128389839	2	1	79	1	0	0	0	0	0	0	0	1	10124	784	28	3		3	MYO7B	2	128389839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8932	128389839	114809534	2842	13159											
GPR17	2840	broad.mit.edu	37	chr2	128408687	128408687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcctcacctgcatcagCgccgaccgtttcctggccat	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000272644.3	+	3	536	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR	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	154					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)			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)		CCTGCATCAGCGCCGACCGTT	0.607																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(460-462)agC>agT		G protein-coupled receptor 17							125	104	111					2																	128408687		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408687C>T		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.462C>T	2.37:g.128408687C>T						GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.S154S|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron	p.S154S	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1073	+	Colorectal(110;0.1)	Ovarian(717;0.15)	154					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.462C>T	CCDS2148.1																																																																																				0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			62	682	0	0	0	1	0	62	682					T	128408687	C	T	128408687	2	4	79	1	0	0	0	0	0	0	0	1	6696	767	27	1		1	GPR17	2	128408687	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18848	128408687	114790686	2843	13160											
LIMS2	55679	broad.mit.edu	37	chr2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacggccacctcacctgCcggcattcttcacaaagccc	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000355119.4	-	4	521	c.356G>A	c.(355-357)gGc>gAc	p.G119D	LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000409455.1_Missense_Mutation_p.G114D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	119	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(340-342)gGc>gAc		LIM and senescent cell antigen-like domains 2							88	84	86					2																	128412001		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412001C>T	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.356G>A	2.37:g.128412001C>T	ENSP00000347240:p.Gly119Asp					LIMS2_ENST00000355119.4_Missense_Mutation_p.G119D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D	p.G114D			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	976	-	Colorectal(110;0.1)		119			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.341G>A	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.799268	0.70567	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.37	5.37	0.77165	Zinc finger, LIM-type (4);	0.106914	0.64402	D	0.000004	D	0.92678	0.7673	M	0.63428	1.95	0.80722	D	1	P;D;D	0.63046	0.875;0.983;0.992	P;P;P	0.59357	0.614;0.836;0.856	D	0.92089	0.5679	10	0.44086	T	0.13	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	141;119;143	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	141;119;143;114;114;114;114;141;114	ENSP00000443794:G141D;ENSP00000347240:G119D;ENSP00000326888:G143D;ENSP00000386383:G114D;ENSP00000386637:G114D;ENSP00000387002:G114D	ENSP00000326888:G143D	G	-	2	0	LIMS2	128128471	1.000000	0.71417	0.909000	0.35828	0.102000	0.19082	5.983000	0.70540	2.523000	0.85059	0.609000	0.83330	GGC		0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		90	415	0	0	0	1	0	90	415					T	128412001	C	T	128412001	3	4	79	1	0	0	0	0	1	0	0	0	8836	739	26	2	697	2	LIMS2	2	128412001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3314	128412001	114787372	2844	13161											
WDR33	55339	broad.mit.edu	37	chr2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggtaaaggtcctcctcGcccctcaaattcacgtaacc	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1035					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTCCTCGCCCCTCAAAT	0.617																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3103-3105)Cga>Tga		WD repeat domain 33							123	125	124					2																	128471362		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471362G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3103C>T	2.37:g.128471362G>A	ENSP00000325377:p.Arg1035*						p.R1035*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3261	-	Colorectal(110;0.1)		1035					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.3103C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	41	9.042449	0.99046	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.86	0.63082	.	0.068596	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.982	13.5976	0.62000	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1035	.	ENSP00000325377:R1035X	R	-	1	2	WDR33	128187832	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.170000	0.31883	2.738000	0.93877	0.655000	0.94253	CGA		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		215	1107	0	0	0	1	0	215	1107					A	128471362	G	A	128471362	4	1	79	1	0	0	0	0	0	1	0	0	17341	1095	38	1	927	1	WDR33	2	128471362	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59361	128471362	114728011	2845	13162											
WDR33	55339	broad.mit.edu	37	chr2	128495607	128495607	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaaaggaagtaacaaCggcagtgatgaaaacatgta	11	5	0	4	rs370534850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128495607C>T	ENST00000322313.4	-	8	883				WDR33_ENST00000393006.1_Missense_Mutation_p.R249H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGTAACAACGGCAGTGATG	0.418																																						ENST00000393006.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(745-747)cGt>cAt		WD repeat domain 33		C	HIS/ARG,	1,3803		0,1,1901	97	90	92		746,	-3.1	0	2		92	0,8240		0,0,4120	no	missense,intron	WDR33	NM_001006623.2,NM_018383.4	29,	0,1,6021	TT,TC,CC		0.0,0.0263,0.0083	,	249/258,	128495607	1,12043	1902	4120	6022	SO:0001627	intron_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128495607C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.725-11256G>A	2.37:g.128495607C>T						WDR33_ENST00000322313.4_Intron	p.R249H	NM_001006623.2	NP_001006624.1	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	8	928	-	Colorectal(110;0.1)		0					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.746G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283451	0.10458	2.63E-4	0.0	ENSG00000136709	ENST00000393006	T	0.72942	-0.7	2.66	-3.13	0.05266	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	8	0.52906	T	0.07	.	4.0484	0.09783	0.0:0.4211:0.217:0.3619	.	249	Q6NUQ0	.	H	249	ENSP00000376730:R249H	ENSP00000376730:R249H	R	-	2	0	WDR33	128212077	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.140000	0.10342	-0.657000	0.05373	-0.351000	0.07748	CGT		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		54	181	0	0	0	1	0	54	181					T	128495607	C	T	128495607	1	4	79	0	1	0	0	0	0	0	0	0	17341	536	19	1		1	WDR33	2	128495607	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24245	128495607	114703766	2846	13163											
WDR33	55339	broad.mit.edu	37	chr2	128528546	128528546	+	Nonsense_Mutation	SNP	C	C	A													acgaggaggagaaccaatttCtgtagccatggtgatgtttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528546C>A	ENST00000322313.4	-	2	168	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	WDR33_ENST00000393006.1_Nonsense_Mutation_p.E4*|WDR33_ENST00000409658.3_Nonsense_Mutation_p.E4*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	4					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAACCAATTTCTGTAGCCATG	0.418																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(10-12)Gaa>Taa		WD repeat domain 33							76	77	77					2																	128528546		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528546C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.10G>T	2.37:g.128528546C>A	ENSP00000325377:p.Glu4*					WDR33_ENST00000393006.1_Nonsense_Mutation_p.E4*|WDR33_ENST00000409658.3_Nonsense_Mutation_p.E4*	p.E4*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	168	-	Colorectal(110;0.1)		4					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.10G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	37	6.164502	0.97338	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	.	.	.	5.54	5.54	0.83059	.	0.153249	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.718	19.4948	0.95067	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000325377:E4X	E	-	1	0	WDR33	128245016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GAA		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		6	223	1	0	3.59834e-05	1	3.67436e-05	6	223					A	128528546	C	A	128528546	4	1	79	1	0	0	0	0	0	1	0	0	17341	922	32	3	4493	3	WDR33	2	128528546	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32939	128528546	114670827	2847	13164	81	2									
WDR33	55339	broad.mit.edu	37	chr2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T													aggagaaccaatttctgtagCcatggtgatgttttccttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(4-6)Gct>Act		WD repeat domain 33							73	74	73					2																	128528552		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528552C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.4G>A	2.37:g.128528552C>T	ENSP00000325377:p.Ala2Thr					WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	162	-	Colorectal(110;0.1)		2					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.4G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736203	0.89482	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56381	0.1981	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.74674	0.981;0.971;0.984	T	0.67133	-0.5747	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	T	2	ENSP00000325377:A2T;ENSP00000376730:A2T;ENSP00000387186:A2T;ENSP00000386861:A2T	ENSP00000325377:A2T	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		34	181	0	0	0	1	0	34	181					T	128528552	C	T	128528552	3	4	79	1	0	0	0	0	1	0	0	0	17341	739	26	2	4499	2	WDR33	2	128528552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	128528552	114670821	2848	13165	81	2									
AMMECR1L	83607	broad.mit.edu	37	chr2	128622692	128622692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaatgattgtagaggggCggggcatgaagagtgccgtt	18	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(907-909)ccG>ccA		AMMECR1-like							161	148	152					2																	128622692		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128622692C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.909G>A	2.37:g.128622692C>T						AMMECR1L_ENST00000393001.1_Silent_p.P303P	p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	8	1169	-	Colorectal(110;0.1)		303					B4E276	Silent	SNP	ENST00000272647.5	37	c.909G>A	CCDS2152.1																																																																																				0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		50	599	0	0	0	1	0	50	599					T	128622692	C	T	128622692	2	4	79	1	0	0	0	0	0	0	0	1	579	755	27	1		1	AMMECR1L	2	128622692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94140	128622692	114576681	2849	13166											
AMMECR1L	83607	broad.mit.edu	37	chr2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaactcaccttgttcCttagcaacctcaggtaaata	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	239	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(715-717)aaG>aaT		AMMECR1-like							135	120	125					2																	128627035		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128627035C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.717G>T	2.37:g.128627035C>A	ENSP00000272647:p.Lys239Asn					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	6	977	-	Colorectal(110;0.1)		239			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.717G>T	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693364	0.48202	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.52	0.55395	AMMECR1 domain (2);	0.063723	0.64402	D	0.000005	T	0.58018	0.2093	M	0.63843	1.955	0.51233	D	0.999914	B	0.23540	0.087	B	0.28784	0.094	T	0.53486	-0.8432	9	0.22109	T	0.4	-4.9988	11.3608	0.49642	0.0:0.8541:0.0:0.1459	.	239	Q6DCA0	AMERL_HUMAN	N	239	.	ENSP00000272647:K239N	K	-	3	2	AMMECR1L	128343505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	1.422000	0.47177	0.650000	0.86243	AAG		0.408	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		112	333	1	0	1.25929e-39	1	1.52335e-39	112	333					A	128627035	C	A	128627035	3	1	79	1	0	0	0	0	1	0	0	0	579	680	24	3	227	3	AMMECR1L	2	128627035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4343	128627035	114572338	2850	13167											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628468	128628468	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtttaggcagctcctctcGggtcagggggggaaatcggc	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128628468G>T	ENST00000272647.5	-	5	813	c.553C>A	c.(553-555)Cga>Aga	p.R185R	AMMECR1L_ENST00000393001.1_Silent_p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	185	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.R185*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGCTCCTCTCGGGTCAGGGGG	0.532																																						ENST00000272647.5																			1	Substitution - Nonsense(1)	p.R185*(1)	large_intestine(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(553-555)Cga>Aga		AMMECR1-like							46	44	45					2																	128628468		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128628468G>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.553C>A	2.37:g.128628468G>T						AMMECR1L_ENST00000393001.1_Silent_p.R185R	p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	5	813	-	Colorectal(110;0.1)		185			AMMECR1.		B4E276	Silent	SNP	ENST00000272647.5	37	c.553C>A	CCDS2152.1																																																																																				0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		7	170	1	0	2.0095e-06	1	2.07161e-06	7	170					T	128628468	G	T	128628468	2	4	79	1	0	0	0	0	0	0	0	1	579	1124	39	3		3	AMMECR1L	2	128628468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1433	128628468	114570905	2851	13168											
SAP130	79595	broad.mit.edu	37	chr2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctagactttttcctttcGcttcaatttggacacttttt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000259235.3	-	20	3259	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1044	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTCCTTTCGCTTCAATTTG	0.428																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(3235-3237)Cga>Tga		Sin3A-associated protein, 130kDa							165	153	157					2																	128699597		2203	4300	6503	SO:0001587	stop_gained	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128699597G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3130C>T	2.37:g.128699597G>A	ENSP00000259235:p.Arg1044*					SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.R1044*	p.R1079*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	21	3366	-	Colorectal(110;0.1)		1044					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	37	c.3235C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	35	5.482949	0.96307	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	4.22	0.49857	.	0.175533	0.51477	D	0.000088	.	.	.	.	.	.	0.38751	D	0.954104	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4403	12.2802	0.54759	0.0657:0.0:0.7579:0.1764	.	.	.	.	X	1079;1044;1052	.	ENSP00000259234:R1052X	R	-	1	2	SAP130	128416067	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	5.117000	0.64667	1.632000	0.50472	-0.140000	0.14226	CGA		0.428	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		112	589	0	0	0	1	0	112	589					A	128699597	G	A	128699597	4	1	79	1	0	0	0	0	0	1	0	0	13881	1095	38	1	20	1	SAP130	2	128699597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71129	128699597	114499776	2852	13169											
SAP130	79595	broad.mit.edu	37	chr2	128747250	128747250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgccaagtggtgcaggCtgtatccctggggtcccaat	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000259235.3	-	13	1875	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	582					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGGTGCAGGCTGTATCCCTG	0.577																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1744-1746)caG>caA		Sin3A-associated protein, 130kDa							125	119	121					2																	128747250		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747250C>T	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1746G>A	2.37:g.128747250C>T						SAP130_ENST00000259234.6_Silent_p.Q556Q|SAP130_ENST00000259235.3_Silent_p.Q582Q	p.Q582Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1877	-	Colorectal(110;0.1)		582					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1746G>A	CCDS2153.1																																																																																				0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		66	402	0	0	0	1	0	66	402					T	128747250	C	T	128747250	2	4	79	1	0	0	0	0	0	0	0	1	13881	796	28	2		2	SAP130	2	128747250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47653	128747250	114452123	2853	13170											
SAP130	79595	broad.mit.edu	37	chr2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcaggctgtatccctgGggtcccaatgggggccggct	17	11	0	0	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000259235.3	-	13	1864	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_ENST00000357702.5_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	579					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTATCCCTGGGGTCCCAATG	0.572																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1735-1737)Cca>Tca		Sin3A-associated protein, 130kDa							112	108	110					2																	128747261		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747261G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1735C>T	2.37:g.128747261G>A	ENSP00000259235:p.Pro579Ser					SAP130_ENST00000259234.6_Missense_Mutation_p.P553S|SAP130_ENST00000259235.3_Missense_Mutation_p.P579S	p.P579S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1866	-	Colorectal(110;0.1)		579					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1735C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526128	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.67	0.58626	.	0.188036	0.52532	N	0.000062	T	0.30070	0.0753	N	0.08118	0	0.35563	D	0.804872	B;B;B;B;B	0.21309	0.023;0.0;0.001;0.054;0.004	B;B;B;B;B	0.20577	0.01;0.0;0.002;0.03;0.022	T	0.27020	-1.0086	9	0.08599	T	0.76	-3.5579	13.5288	0.61611	0.0762:0.0:0.9238:0.0	.	579;552;579;109;217	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	S	579;579;553	.	ENSP00000259234:P553S	P	-	1	0	SAP130	128463731	1.000000	0.71417	0.311000	0.25182	0.867000	0.49689	7.421000	0.80204	1.306000	0.44926	0.655000	0.94253	CCA		0.572	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		62	403	0	0	0	1	0	62	403					A	128747261	G	A	128747261	3	1	79	1	0	0	0	0	1	0	0	0	13881	1232	43	2	1552	2	SAP130	2	128747261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	128747261	114452112	2854	13171											
UGGT1	56886	broad.mit.edu	37	chr2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactgaggccgaaggaaGgggagacatactttgatgtt	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000259253.6	+	27	2994	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'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)			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						GCCGAAGGAAGGGGAGACATA	0.443																																						ENST00000375990.3																			0				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						c.(2875-2877)Ggg>Tgg		UDP-glucose glycoprotein glucosyltransferase 1							151	120	131					2																	128927887		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.chr2:128927887G>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.2947G>T	2.37:g.128927887G>T	ENSP00000259253:p.Gly983Trp					UGGT1_ENST00000259253.6_Missense_Mutation_p.G983W	p.G959W			Q9NYU2	UGGG1_HUMAN			27	3278	+			983					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2875G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	6.17	4.04	0.47022	.	0.204121	0.52532	N	0.000075	T	0.45975	0.1369	L	0.55481	1.735	0.50467	D	0.999876	D;D	0.56035	0.971;0.974	P;D	0.63877	0.649;0.919	T	0.34925	-0.9809	9	.	.	.	.	12.3439	0.55109	0.0698:0.0:0.8083:0.122	.	959;983	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	959;983	ENSP00000365158:G959W;ENSP00000259253:G983W	.	G	+	1	0	UGGT1	128644357	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.106000	0.64597	1.584000	0.49913	0.655000	0.94253	GGG		0.443	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		35	219	1	0	1.08052e-11	1	1.15422e-11	35	219					T	128927887	G	T	128927887	3	4	79	1	0	0	0	0	1	0	0	0	16995	1000	35	3	3053	3	UGGT1	2	128927887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180626	128927887	114271486	2855	13172											
HS6ST1	9394	broad.mit.edu	37	chr2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgccgcccgcccgcGtgctattgtactgcatgaag	10	17	0	1	rs374196972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	322					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(964-966)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	0,4276		0,0,2138	41	45	43		965	4.8	0.9	2		43	1,8481		0,1,4240	no	missense	HS6ST1	NM_004807.2	81	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	322/412	129026007	1,12757	2138	4241	6379	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026007G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.965C>T	2.37:g.129026007G>A	ENSP00000259241:p.Thr322Met						p.T322M	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	978	-	Colorectal(110;0.1)		322					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.965C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874780	0.72180	0.0	1.18E-4	ENSG00000136720	ENST00000259241	T	0.76060	-0.99	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90425	0.4420	9	.	.	.	-1.3832	17.8351	0.88693	0.0:0.0:1.0:0.0	.	322	O60243	H6ST1_HUMAN	M	322	ENSP00000259241:T322M	.	T	-	2	0	HS6ST1	128742477	1.000000	0.71417	0.934000	0.37439	0.537000	0.34900	7.570000	0.82390	2.203000	0.70933	0.462000	0.41574	ACG		0.602	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		66	204	0	0	0	1	0	66	204					A	129026007	G	A	129026007	3	1	79	1	0	0	0	0	1	0	0	0	7400	1145	40	1	274	1	HS6ST1	2	129026007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98120	129026007	114173366	2856	13173											
HS6ST1	9394	broad.mit.edu	37	chr2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaacttgaggttgaacGtccgctcgaacaggtactgc	13	9	0	3	rs372108639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	307					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(919-921)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	1,4175		0,1,2087	32	33	33		920	4.8	1	2		33	0,8424		0,0,4212	no	missense	HS6ST1	NM_004807.2	81	0,1,6299	AA,AG,GG		0.0,0.0239,0.0079	probably-damaging	307/412	129026052	1,12599	2088	4212	6300	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026052G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.920C>T	2.37:g.129026052G>A	ENSP00000259241:p.Thr307Met						p.T307M	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	933	-	Colorectal(110;0.1)		307					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.920C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874990	0.72180	2.39E-4	0.0	ENSG00000136720	ENST00000259241	D	0.84589	-1.87	4.78	4.78	0.61160	.	0.047862	0.85682	N	0.000000	D	0.91085	0.7194	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90815	0.4704	9	.	.	.	0.0782	17.8351	0.88693	0.0:0.0:1.0:0.0	.	307	O60243	H6ST1_HUMAN	M	307	ENSP00000259241:T307M	.	T	-	2	0	HS6ST1	128742522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.203000	0.70933	0.462000	0.41574	ACG		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		34	141	0	0	0	1	0	34	141					A	129026052	G	A	129026052	3	1	79	1	0	0	0	0	1	0	0	0	7400	1145	40	1	319	1	HS6ST1	2	129026052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	129026052	114173321	2857	13174											
RAB6C	84084	broad.mit.edu	37	chr2	130738170	130738170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactagggcaaaagctggatAcaatgtaaagcagctctttc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	ENST00000410061.2	+	1	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	161	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAAGCTGGATACAATGTAAAG	0.468																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(481-483)tAc>tGc		RAB6C, member RAS oncogene family							97	83	88					2																	130738170		2203	4297	6500	SO:0001583	missense	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738170A>G	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.482A>G	2.37:g.130738170A>G	ENSP00000387307:p.Tyr161Cys						p.Y161C	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	936	+	Colorectal(110;0.1)		161					Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	ENST00000410061.2	37	c.482A>G	CCDS46408.1	.	.	.	.	.	.	.	.	.	.	.	9.317	1.057016	0.19907	.	.	ENSG00000222014	ENST00000410061	T	0.80123	-1.34	0.652	0.652	0.17823	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70159	0.3192	L	0.44542	1.39	0.44508	D	0.997451	B	0.26081	0.141	B	0.27796	0.083	T	0.65792	-0.6082	9	0.72032	D	0.01	-2.6348	5.6347	0.17530	0.9999:0.0:1.0E-4:0.0	.	161	Q9H0N0	RAB6C_HUMAN	C	161	ENSP00000387307:Y161C	ENSP00000387307:Y161C	Y	+	2	0	RAB6C	130454640	1.000000	0.71417	0.011000	0.14972	0.338000	0.28826	3.269000	0.51592	0.537000	0.28751	0.102000	0.15555	TAC		0.468	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		41	376	0	0	0	1	0	41	376					G	130738170	A	G	130738170	3	3	79	1	0	0	0	0	1	0	0	0	13003	391	14	4	484	4	RAB6C	2	130738170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1712118	130738170	112461203	2858	13175											
POTEF	728378	broad.mit.edu	37	chr2	130877873	130877873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcttgccactccccctGcagcaggggaagcagtggcg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000409914.2	-	3	615	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	72					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTCCCCCTGCAGCAGGGGA	0.587																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(214-216)tgC>tgT		POTE ankyrin domain family, member F							80	112	101					2																	130877873		2190	4295	6485	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130877873G>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.216C>T	2.37:g.130877873G>A						POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000409914.2_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	p.C72C			A5A3E0	POTEF_HUMAN			1	309	-			72					A6NC34	Silent	SNP	ENST00000409914.2	37	c.216C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		55	1308	0	0	0	1	0	55	1308					A	130877873	G	A	130877873	2	1	79	1	0	0	0	0	0	0	0	1	12307	1311	46	2		2	POTEF	2	130877873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139703	130877873	112321500	2859	13176											
SMPD4	55627	broad.mit.edu	37	chr2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagagatgtgtcgctTtaggaggctagtgtggtgga	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	238					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(829-831)Aag>Cag		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						94	82	86					2																	130925111		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130925111T>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.829A>C	2.37:g.130925111T>G	ENSP00000386531:p.Lys277Gln					SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000453750.1_Intron	p.K277Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			9	1977	-	Colorectal(110;0.1)		238					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.829A>C	CCDS42751.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	21.6|21.6|21.6	4.170904|4.170904|4.170904	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000136699|ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682|ENST00000439886	.|.|.	.|.|.	.|.|.	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|.	0.70859|0.70859|.	0.3272|0.3272|.	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.63046|.|.	0.066;0.138;0.026;0.492;0.992|.|.	B;B;B;B;P|.|.	0.59171|.|.	0.044;0.073;0.038;0.245;0.853|.|.	T|T|.	0.71076|0.71076|.	-0.4697|-0.4697|.	9|6|.	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	10.6337|10.6337|10.6337	0.45551|0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	204;164;238;238;277|.|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.|.	.;.;.;NSMA3_HUMAN;.|.|.	Q|T|Y	277;277;204;164;54|66|105	.|.|.	ENSP00000339721:K164Q|.|.	K|K|X	-|-|-	1|2|3	0|0|2	SMPD4|SMPD4|SMPD4	130641581|130641581|130641581	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.375000|7.375000|7.375000	0.79646|0.79646|0.79646	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	AAG|AAA|TAA		0.557	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		34	287	0	0	0	1	0	34	287					G	130925111	T	G	130925111	3	3	79	1	0	0	0	0	1	0	0	0	14857	1850	64	4	1819	4	SMPD4	2	130925111	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47238	130925111	112274262	2860	13177											
FAM128B	80097	broad.mit.edu	37	chr2	130948058	130948058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggagaaacaaaggcagCgctgccctcgggggagcatt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130948058C>T	ENST00000281871.6	+	3	691	c.336C>T	c.(334-336)agC>agT	p.S112S	MZT2B_ENST00000409255.1_Silent_p.S172S	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	112						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						ACAAAGGCAGCGCTGCCCTCG	0.627																																						ENST00000281871.6																			0				lung(1)	1						c.(334-336)agC>agT		mitotic spindle organizing protein 2B							30	29	30					2																	130948058		2201	4300	6501	SO:0001819	synonymous_variant	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948058C>T	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.336C>T	2.37:g.130948058C>T						MZT2B_ENST00000409255.1_Silent_p.S172S	p.S112S	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN			3	691	+			112					Q96CG4	Silent	SNP	ENST00000281871.6	37	c.336C>T	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.120|0.120	-1.126970|-1.126970	0.01770|0.01770	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	.|.	.|.	.|.	3.47|3.47	0.573|0.573	0.17363|0.17363	.|.	.|.	.|.	.|.	.|.	T|T	0.36908|0.36908	0.0984|0.0984	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31280|0.31280	-0.9949|-0.9949	4|5	.|0.48119	.|T	.|0.1	-5.8906|-5.8906	6.3318|6.3318	0.21274|0.21274	0.0:0.5373:0.0:0.4627|0.0:0.5373:0.0:0.4627	.|.	.|.	.|.	.|.	V|C	76|53	.|.	.|ENSP00000404629:R53C	A|R	+|+	2|1	0|0	MZT2B|MZT2B	130664528|130664528	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.062000|0.062000	0.15995|0.15995	-0.131000|-0.131000	0.10482|0.10482	-0.004000|-0.004000	0.14419|0.14419	-0.372000|-0.372000	0.07161|0.07161	GCG|CGC		0.627	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		78	199	0	0	0	1	0	78	199					T	130948058	C	T	130948058	2	4	79	1	0	0	0	0	0	0	0	1	5456	767	27	1		1	FAM128B	2	130948058	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22947	130948058	112251315	2861	13178											
TUBA3E	112714	broad.mit.edu	37	chr2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagcatgcacacggccCgctgcaccttggccaggtct	11	16	2	0	rs537573234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	373					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17072	0.0		0.0	False		,,,				2504	0.0					ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1117-1119)cGg>cAg		tubulin, alpha 3e							39	40	39					2																	130949639		2202	4290	6492	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949639C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1118G>A	2.37:g.130949639C>T	ENSP00000318197:p.Arg373Gln						p.R373Q	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1218	-	Colorectal(110;0.1)		373						Missense_Mutation	SNP	ENST00000312988.7	37	c.1118G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.562135	0.45590	.	.	ENSG00000152086	ENST00000312988	D	0.84660	-1.88	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.118605	0.29838	U	0.011066	D	0.86012	0.5831	M	0.85299	2.745	0.45015	D	0.998032	B	0.20550	0.046	B	0.26310	0.068	D	0.86632	0.1886	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	373	Q6PEY2	TBA3E_HUMAN	Q	373	ENSP00000318197:R373Q	ENSP00000318197:R373Q	R	-	2	0	TUBA3E	130666109	0.956000	0.32656	1.000000	0.80357	0.910000	0.53928	2.209000	0.42806	1.668000	0.50843	0.455000	0.32223	CGG		0.607	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		71	455	0	0	0	1	0	71	455					T	130949639	C	T	130949639	3	4	79	1	0	0	0	0	1	0	0	0	16802	652	23	1	238	1	TUBA3E	2	130949639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1581	130949639	112249734	2862	13179											
TUBA3E	112714	broad.mit.edu	37	chr2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgatctgcccaatcaggCgattgaggttggtgtacgtg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCAATCAGGCGATTGAGGTT	0.537																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(685-687)cGc>cAc		tubulin, alpha 3e							163	116	132					2																	130951729		2203	4298	6501	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951729C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.686G>A	2.37:g.130951729C>T	ENSP00000318197:p.Arg229His						p.R229H	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	786	-	Colorectal(110;0.1)		229						Missense_Mutation	SNP	ENST00000312988.7	37	c.686G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852325	0.32699	.	.	ENSG00000152086	ENST00000312988	T	0.68331	-0.32	2.92	2.92	0.33932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.48286	U	0.000197	T	0.66684	0.2814	L	0.31664	0.95	0.44668	D	0.997653	D	0.69078	0.997	P	0.59056	0.851	T	0.70846	-0.4761	10	0.87932	D	0	.	11.6717	0.51406	0.0:1.0:0.0:0.0	.	229	Q6PEY2	TBA3E_HUMAN	H	229	ENSP00000318197:R229H	ENSP00000318197:R229H	R	-	2	0	TUBA3E	130668199	0.884000	0.30299	0.597000	0.28824	0.135000	0.20990	3.087000	0.50167	1.664000	0.50801	0.449000	0.29647	CGC		0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		27	741	0	0	0	1	0	27	741					T	130951729	C	T	130951729	3	4	79	1	0	0	0	0	1	0	0	0	16802	768	27	1	674	1	TUBA3E	2	130951729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2090	130951729	112247644	2863	13180											
TUBA3E	112714	broad.mit.edu	37	chr2	130951874	130951874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgtagggctccaccaCggctgtggagacctgggggg	19	9	0	1	rs550511590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951874C>T	ENST00000312988.7	-	4	641	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	181					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGCTCCACCACGGCTGTGGAG	0.537													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16963	0.0		0.0	False		,,,				2504	0.0					ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(541-543)Gtg>Atg		tubulin, alpha 3e							90	98	95					2																	130951874		2194	4258	6452	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951874C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.541G>A	2.37:g.130951874C>T	ENSP00000318197:p.Val181Met						p.V181M	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	641	-	Colorectal(110;0.1)		181						Missense_Mutation	SNP	ENST00000312988.7	37	c.541G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.907743	0.33721	.	.	ENSG00000152086	ENST00000312988	T	0.71222	-0.55	2.57	1.67	0.24075	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.44902	U	0.000419	T	0.81418	0.4818	M	0.82433	2.59	0.40756	D	0.982968	D	0.76494	0.999	D	0.78314	0.991	T	0.80360	-0.1415	10	0.87932	D	0	.	7.3071	0.26453	0.0:0.8546:0.0:0.1454	.	181	Q6PEY2	TBA3E_HUMAN	M	181	ENSP00000318197:V181M	ENSP00000318197:V181M	V	-	1	0	TUBA3E	130668344	1.000000	0.71417	0.996000	0.52242	0.794000	0.44872	4.911000	0.63328	0.414000	0.25790	0.449000	0.29647	GTG		0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		12	566	0	0	0	1	0	12	566					T	130951874	C	T	130951874	3	4	79	1	0	0	0	0	1	0	0	0	16802	536	19	1	819	1	TUBA3E	2	130951874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	130951874	112247499	2864	13181											
CCDC115	84317	broad.mit.edu	37	chr2	131096740	131096740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttctcttggagtccccGgagctggcttcgaccccagt	12	13	1	0	rs368677023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131096740G>A	ENST00000259229.2	-	5	719	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	166						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TGGAGTCCCCGGAGCTGGCTT	0.612																																						ENST00000259229.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(496-498)Cgg>Tgg		coiled-coil domain containing 115		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63	60	61		496	2.2	0.7	2		61	0,8600		0,0,4300	no	missense	CCDC115	NM_032357.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	166/181	131096740	1,13005	2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131096740G>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.496C>T	2.37:g.131096740G>A	ENSP00000259229:p.Arg166Trp					CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	p.R166W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN			5	719	-	Colorectal(110;0.1)		166					B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.496C>T	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317111	0.60524	2.27E-4	0.0	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.94758	-3.51;-3.51	4.0	2.15	0.27550	.	0.433514	0.22936	N	0.053855	D	0.94315	0.8173	L	0.54323	1.7	0.45415	D	0.998395	D;D	0.71674	0.998;0.998	P;P	0.62491	0.742;0.903	D	0.92059	0.5655	10	0.72032	D	0.01	.	4.775	0.13175	0.1113:0.0:0.6762:0.2125	.	166;161	Q96NT0;B8ZZ99	CC115_HUMAN;.	W	166;161	ENSP00000259229:R166W;ENSP00000387301:R161W	ENSP00000259229:R166W	R	-	1	2	CCDC115	130813210	0.017000	0.18338	0.679000	0.29978	0.920000	0.55202	1.376000	0.34306	0.620000	0.30215	0.591000	0.81541	CGG		0.612	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		6	240	0	0	0	1	0	6	240					A	131096740	G	A	131096740	3	1	79	1	0	0	0	0	1	0	0	0	2759	1115	39	1	50	1	CCDC115	2	131096740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144866	131096740	112102633	2865	13182											
GPR148	344561	broad.mit.edu	37	chr2	131486811	131486811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagacaccctgcatgccCcaagcagccagcaacacttc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486811C>A	ENST00000309926.4	+	1	169	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	29				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCATGCCCCAAGCAGCCA	0.632																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(85-87)ccC>ccA		G protein-coupled receptor 148							89	85	86					2																	131486811		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486811C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.87C>A	2.37:g.131486811C>A							p.P29P	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	169	+	Colorectal(110;0.1)		29	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).				Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.87C>A	CCDS2163.1																																																																																				0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		62	513	1	0	1.22119e-34	1	1.45331e-34	62	513					A	131486811	C	A	131486811	2	1	79	1	0	0	0	0	0	0	0	1	6682	610	22	3		3	GPR148	2	131486811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390071	131486811	111712562	2866	13183											
GPR148	344561	broad.mit.edu	37	chr2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtgcccagctccatgCtgtactggcttttccttccc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(145-147)Ctg>Atg		G protein-coupled receptor 148							76	68	71					2																	131486869		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486869C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.145C>A	2.37:g.131486869C>A	ENSP00000308908:p.Leu49Met						p.L49M	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	227	+	Colorectal(110;0.1)		49	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).				Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.145C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.247744	0.59103	.	.	ENSG00000173302	ENST00000309926	T	0.38401	1.14	2.77	2.77	0.32553	.	0.000000	0.38381	U	0.001712	T	0.35307	0.0927	N	0.08118	0	0.27795	N	0.942698	D	0.89917	1.0	D	0.83275	0.996	T	0.18618	-1.0331	10	0.32370	T	0.25	-4.6591	11.7043	0.51590	0.0:1.0:0.0:0.0	.	49	Q8TDV2	GP148_HUMAN	M	49	ENSP00000308908:L49M	ENSP00000308908:L49M	L	+	1	2	GPR148	131203339	0.990000	0.36364	0.149000	0.22428	0.139000	0.21198	2.612000	0.46343	1.496000	0.48567	0.462000	0.41574	CTG		0.637	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		94	246	1	0	4.92795e-40	1	5.96786e-40	94	246					A	131486869	C	A	131486869	3	1	79	1	0	0	0	0	1	0	0	0	6682	796	28	3	147	3	GPR148	2	131486869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	131486869	111712504	2867	13184											
GPR148	344561	broad.mit.edu	37	chr2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctgggactcacacatgGctcctggcagctaacagtga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(895-897)tgG>tgA		G protein-coupled receptor 148							153	117	129					2																	131487621		2203	4300	6503	SO:0001587	stop_gained	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487621G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.897G>A	2.37:g.131487621G>A	ENSP00000308908:p.Trp299*						p.W299*	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	979	+	Colorectal(110;0.1)		299					Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	37	c.897G>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082396	0.76528	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.17	3.17	0.36434	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9475	12.1529	0.54059	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000308908:W299X	W	+	3	0	GPR148	131204091	1.000000	0.71417	0.890000	0.34922	0.526000	0.34562	4.537000	0.60643	1.506000	0.48736	0.462000	0.41574	TGG		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		40	400	0	0	0	1	0	40	400					A	131487621	G	A	131487621	4	1	79	1	0	0	0	0	0	1	0	0	6682	1212	42	2	899	2	GPR148	2	131487621	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	131487621	111711752	2868	13185											
FAM123C	205147	broad.mit.edu	37	chr2	131520443	131520443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccatctctggagctgaaCgagggcccggagagcccaac	14	13	1	2	rs200772975	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131520443C>T	ENST00000423981.1	+	2	908	c.798C>T	c.(796-798)aaC>aaT	p.N266N	AMER3_ENST00000321420.4_Silent_p.N266N	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	266					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGGAGCTGAACGAGGGCCCGG	0.672													C|||	4	0.000798722	0.003	0.0	5008	,	,		17385	0.0		0.0	False		,,,				2504	0.0					ENST00000423981.1																			0											c.(796-798)aaC>aaT		APC membrane recruitment protein 3		C	,,,	1,4405	2.1+/-5.4	0,1,2202	38	43	42		798,798,798,798	-10.4	0	2		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	266/862,266/862,266/862,266/862	131520443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520443C>T	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.798C>T	2.37:g.131520443C>T						AMER3_ENST00000321420.4_Silent_p.N266N	p.N266N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	908	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.798C>T	CCDS2164.1																																																																																				0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		111	269	0	0	0	1	0	111	269					T	131520443	C	T	131520443	2	4	79	1	0	0	0	0	0	0	0	1	5445	535	19	1		1	FAM123C	2	131520443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32822	131520443	111678930	2869	13186											
FAM123C	205147	broad.mit.edu	37	chr2	131521183	131521183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtcagctggctgcGccgaggccccacgccccgtg	15	17	1	0	rs373842884		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521183G>A	ENST00000423981.1	+	2	1648	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	AMER3_ENST00000321420.4_Missense_Mutation_p.R513H	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	513					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R513H(1)									AGCTGGCTGCGCCGAGGCCCC	0.682																																						ENST00000423981.1																			1	Substitution - Missense(1)	p.R513H(1)	pancreas(1)								c.(1537-1539)cGc>cAc		APC membrane recruitment protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4346		0,2,2172	9	8	9		1538,1538,1538,1538	4.7	1	2		9	0,8508		0,0,4254	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	29,29,29,29	0,2,6426	AA,AG,GG		0.0,0.046,0.0156	probably-damaging,probably-damaging,probably-damaging,probably-damaging	513/862,513/862,513/862,513/862	131521183	2,12854	2174	4254	6428	SO:0001583	missense	205147							g.chr2:131521183G>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.1538G>A	2.37:g.131521183G>A	ENSP00000392700:p.Arg513His					AMER3_ENST00000321420.4_Missense_Mutation_p.R513H	p.R513H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1648	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1538G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090372	0.55968	4.6E-4	0.0	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.64438	-0.1;-0.1	4.69	4.69	0.59074	.	0.000000	0.46442	D	0.000285	T	0.69342	0.3100	L	0.32530	0.975	0.33169	D	0.548037	D	0.89917	1.0	D	0.68943	0.961	T	0.77965	-0.2389	10	0.72032	D	0.01	.	15.4857	0.75564	0.0:0.0:1.0:0.0	.	513	Q8N944	F123C_HUMAN	H	513	ENSP00000314914:R513H;ENSP00000392700:R513H	ENSP00000314914:R513H	R	+	2	0	FAM123C	131237653	1.000000	0.71417	0.985000	0.45067	0.441000	0.31987	5.054000	0.64275	2.330000	0.79161	0.561000	0.74099	CGC		0.682	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		15	57	0	0	0	1	0	15	57					A	131521183	G	A	131521183	3	1	79	1	0	0	0	0	1	0	0	0	5445	1087	38	1	1540	1	FAM123C	2	131521183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	740	131521183	111678190	2870	13187											
FAM123C	205147	broad.mit.edu	37	chr2	131521670	131521670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcccatgctggcaggCtgtgtggcccgtgtggcagc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521670C>T	ENST00000423981.1	+	2	2135	c.2025C>T	c.(2023-2025)ggC>ggT	p.G675G	AMER3_ENST00000321420.4_Silent_p.G675G	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	675					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGCTGGCAGGCTGTGTGGCCC	0.657																																						ENST00000423981.1																			0											c.(2023-2025)ggC>ggT		APC membrane recruitment protein 3							21	23	23					2																	131521670		2201	4299	6500	SO:0001819	synonymous_variant	205147							g.chr2:131521670C>T	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.2025C>T	2.37:g.131521670C>T						AMER3_ENST00000321420.4_Silent_p.G675G	p.G675G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2135	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2025C>T	CCDS2164.1																																																																																				0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		14	85	0	0	0	1	0	14	85					T	131521670	C	T	131521670	2	4	79	1	0	0	0	0	0	0	0	1	5445	784	28	2		2	FAM123C	2	131521670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	487	131521670	111677703	2871	13188											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797660	131797660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcggagcggaggacggCggggcggaggcgcagagcag	22	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000326016.5	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000392953.3_Silent_p.G273G	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	273					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGAGGACGGCGGGGCGGAGG	0.662																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(817-819)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 4							48	48	48					2																	131797660		2201	4299	6500	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797660C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.819C>T	2.37:g.131797660C>T						ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.G273G|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR	p.G273G	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1338	+		Prostate(154;0.055)	273					Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.819C>T	CCDS2165.1																																																																																				0.662	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			37	73	0	0	0	1	0	37	73					T	131797660	C	T	131797660	2	4	79	1	0	0	0	0	0	0	0	1	908	755	27	1		1	ARHGEF4	2	131797660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275990	131797660	111401713	2872	13189											
FAM168B	130074	broad.mit.edu	37	chr2	131813237	131813237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgctggtgggggaacaGgacactttgtaaggtgtgcc	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	62						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(184-186)tcC>tcT		family with sequence similarity 168, member B							43	48	46					2																	131813237		2033	4189	6222	SO:0001819	synonymous_variant	130074							g.chr2:131813237G>A		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.186C>T	2.37:g.131813237G>A						FAM168B_ENST00000389915.3_Silent_p.S62S	p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			4	293	-			62					Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	37	c.186C>T	CCDS42755.1																																																																																				0.622	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		18	201	0	0	0	1	0	18	201					A	131813237	G	A	131813237	2	1	79	1	0	0	0	0	0	0	0	1	5507	987	35	2		2	FAM168B	2	131813237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15577	131813237	111386136	2873	13190											
POTEE	445582	broad.mit.edu	37	chr2	131976037	131976037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagccatttggtctcaGgagcaagatgggcaagtggt	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976037G>T	ENST00000356920.5	+	1	156	c.62G>T	c.(61-63)aGg>aTg	p.R21M	POTEE_ENST00000358087.5_Missense_Mutation_p.R21M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	21					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTTGGTCTCAGGAGCAAGATG	0.552																																						ENST00000356920.5																			0											c.(61-63)aGg>aTg		POTE ankyrin domain family, member E							60	74	69					2																	131976037		2193	4293	6486	SO:0001583	missense	445582						ATP binding	g.chr2:131976037G>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.62G>T	2.37:g.131976037G>T	ENSP00000439189:p.Arg21Met					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R21M|PLEKHB2_ENST00000404460.1_Intron	p.R21M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	156	+			21					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.62G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192929	0.21954	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	D;T	0.81821	-1.54;0.81	0.1	0.1	0.14510	.	.	.	.	.	T	0.70833	0.3269	L	0.27053	0.805	0.09310	N	1	P	0.46578	0.88	P	0.46208	0.507	T	0.61715	-0.7006	8	0.87932	D	0	.	.	.	.	.	21	Q6S8J3	POTEE_HUMAN	M	21	ENSP00000439189:R21M;ENSP00000443049:R21M	ENSP00000439189:R21M	R	+	2	0	AC131180.1	131692507	0.002000	0.14202	0.046000	0.18839	0.047000	0.14425	0.734000	0.26101	0.170000	0.19704	0.173000	0.16961	AGG		0.552	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		51	726	1	0	7.50695e-29	1	8.75429e-29	51	726					T	131976037	G	T	131976037	3	4	79	1	0	0	0	0	1	0	0	0	12306	1000	35	3	64	3	POTEE	2	131976037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162800	131976037	111223336	2874	13191											
POTEE	445582	broad.mit.edu	37	chr2	131976082	131976082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgcttcccctgctacaGggagagcggcaagagcaacg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976082G>T	ENST00000356920.5	+	1	201	c.107G>T	c.(106-108)aGg>aTg	p.R36M	POTEE_ENST00000358087.5_Missense_Mutation_p.R36M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	36					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCTGCTACAGGGAGAGCGGC	0.567																																						ENST00000356920.5																			0											c.(106-108)aGg>aTg		POTE ankyrin domain family, member E							153	177	169					2																	131976082		2187	4298	6485	SO:0001583	missense	445582						ATP binding	g.chr2:131976082G>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.107G>T	2.37:g.131976082G>T	ENSP00000439189:p.Arg36Met					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R36M|PLEKHB2_ENST00000404460.1_Intron	p.R36M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	201	+			36					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.107G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.381	1.073004	0.20147	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79749	-1.3;1.35	0.1	0.1	0.14510	.	.	.	.	.	T	0.70011	0.3175	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.46208	0.507	T	0.61128	-0.7125	8	0.87932	D	0	.	.	.	.	.	36	Q6S8J3	POTEE_HUMAN	M	36	ENSP00000439189:R36M;ENSP00000443049:R36M	ENSP00000439189:R36M	R	+	2	0	AC131180.1	131692552	0.001000	0.12720	0.015000	0.15790	0.015000	0.08874	-0.471000	0.06631	0.170000	0.19704	0.173000	0.16961	AGG		0.567	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		97	1101	1	0	8.87156e-34	1	1.0529e-33	97	1101					T	131976082	G	T	131976082	3	4	79	1	0	0	0	0	1	0	0	0	12306	1000	35	3	109	3	POTEE	2	131976082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	131976082	111223291	2875	13192											
POTEE	445582	broad.mit.edu	37	chr2	131984434	131984434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttggtgtacatgagcaAaaacagcaagtcgtgaaatt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	ENST00000356920.5	+	4	943	c.849A>C	c.(847-849)caA>caC	p.Q283H	POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	283					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACATGAGCAAAAACAGCAAG	0.323																																						ENST00000356920.5																			0											c.(847-849)caA>caC		POTE ankyrin domain family, member E							93	109	103					2																	131984434		1499	2703	4202	SO:0001583	missense	445582						ATP binding	g.chr2:131984434A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.849A>C	2.37:g.131984434A>C	ENSP00000439189:p.Gln283His					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|PLEKHB2_ENST00000404460.1_Intron	p.Q283H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			4	943	+			283					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.849A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249627	0.22880	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.16	-1.78	0.07957	Ankyrin repeat-containing domain (4);	1.304430	0.06078	U	0.661422	T	0.24736	0.0600	N	0.17082	0.46	0.09310	N	1	P	0.44309	0.832	B	0.34824	0.19	T	0.17018	-1.0383	10	0.87932	D	0	.	3.0083	0.06035	0.3104:0.3972:0.2924:0.0	.	283	Q6S8J3	POTEE_HUMAN	H	283;293	ENSP00000439189:Q283H;ENSP00000443049:Q293H	ENSP00000439189:Q283H	Q	+	3	2	AC131180.1	131700904	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-1.876000	0.01633	-0.490000	0.06707	0.136000	0.15936	CAA		0.323	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		116	595	0	0	0	1	0	116	595					C	131984434	A	C	131984434	3	2	79	1	0	0	0	0	1	0	0	0	12306	11	1	4	863	4	POTEE	2	131984434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8352	131984434	111214939	2876	13193											
TUBA3D	113457	broad.mit.edu	37	chr2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctctgctcatggagcGgctctcagtggattacggca	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	156					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCATGGAGCGGCTCTCAGTG	0.587																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(466-468)cGg>cAg		tubulin, alpha 3d							75	84	80					2																	132237733		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237733G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.467G>A	2.37:g.132237733G>A	ENSP00000326042:p.Arg156Gln					TUBA3D_ENST00000409047.2_3'UTR	p.R156Q	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	574	+			156					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.467G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604006	0.28534	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71341	-0.56	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000277	T	0.64670	0.2619	M	0.78801	2.425	0.43740	D	0.996237	P	0.40332	0.713	B	0.31495	0.131	T	0.70949	-0.4733	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	156	Q13748	TBA3C_HUMAN	Q	156	ENSP00000326042:R156Q	ENSP00000326042:R156Q	R	+	2	0	TUBA3D	131954203	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.151000	0.89636	1.243000	0.43853	0.194000	0.17425	CGG		0.587	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		189	555	0	0	0	1	0	189	555					A	132237733	G	A	132237733	3	1	79	1	0	0	0	0	1	0	0	0	16801	1116	39	1	481	1	TUBA3D	2	132237733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253299	132237733	110961640	2877	13194											
TUBA3D	113457	broad.mit.edu	37	chr2	132237807	132237807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccaggtctccacagccGtggtggagccctacaactcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237807G>A	ENST00000321253.6	+	4	648	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	181					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCCACAGCCGTGGTGGAGCC	0.547																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(541-543)Gtg>Atg		tubulin, alpha 3d							145	160	155					2																	132237807		2202	4299	6501	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237807G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.541G>A	2.37:g.132237807G>A	ENSP00000326042:p.Val181Met					TUBA3D_ENST00000409047.2_3'UTR	p.V181M	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	648	+			181					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.541G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.553203	0.27739	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71222	-0.55	2.24	1.33	0.21861	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.41194	U	0.000924	T	0.78266	0.4256	M	0.84948	2.725	0.40022	D	0.975427	P	0.40578	0.722	P	0.52267	0.694	T	0.77051	-0.2731	10	0.87932	D	0	.	6.8167	0.23835	0.1594:0.0:0.8406:0.0	.	181	Q13748	TBA3C_HUMAN	M	181	ENSP00000326042:V181M	ENSP00000326042:V181M	V	+	1	0	TUBA3D	131954277	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	6.409000	0.73289	0.267000	0.21916	0.194000	0.17425	GTG		0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		21	1352	0	0	0	1	0	21	1352					A	132237807	G	A	132237807	3	1	79	1	0	0	0	0	1	0	0	0	16801	1145	40	1	555	1	TUBA3D	2	132237807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	132237807	110961566	2878	13195											
TUBA3D	113457	broad.mit.edu	37	chr2	132237952	132237952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtacaccaacctcaatcGcctgattgggcagatcgtgt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	ENST00000321253.6	+	4	793	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AACCTCAATCGCCTGATTGGG	0.527																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(685-687)cGc>cAc		tubulin, alpha 3d							71	98	89					2																	132237952		2200	4299	6499	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237952G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.686G>A	2.37:g.132237952G>A	ENSP00000326042:p.Arg229His						p.R229H	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	793	+			229					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.686G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502690	0.12822	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68331	-0.32	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.43416	U	0.000563	T	0.50956	0.1646	L	0.31664	0.95	0.43622	D	0.996002	P	0.35656	0.514	B	0.34093	0.175	T	0.57329	-0.7830	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	229	Q13748	TBA3C_HUMAN	H	229	ENSP00000326042:R229H	ENSP00000326042:R229H	R	+	2	0	TUBA3D	131954422	1.000000	0.71417	0.641000	0.29422	0.156000	0.22039	5.292000	0.65673	1.243000	0.43853	0.194000	0.17425	CGC		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		28	614	0	0	0	1	0	28	614					A	132237952	G	A	132237952	3	1	79	1	0	0	0	0	1	0	0	0	16801	1087	38	1	700	1	TUBA3D	2	132237952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	132237952	110961421	2879	13196											
CCDC74A	90557	broad.mit.edu	37	chr2	132287250	132287250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcataatgaatcagaCatcacagaagaaaggtgaga	9	7	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	ENST00000295171.6	+	2	419	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	94										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAATCAGACATCACAGAAG	0.527																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(280-282)aCa>aTa		coiled-coil domain containing 74A							154	137	143					2																	132287250		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132287250C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.281C>T	2.37:g.132287250C>T	ENSP00000295171:p.Thr94Ile					CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000478665.1_3'UTR	p.T94I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			2	419	+			94					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.281C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.521	0.868682	0.17322	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.48836	0.89;0.89;0.8	2.88	1.67	0.24075	.	0.352407	0.22562	U	0.058455	T	0.23532	0.0569	N	0.08118	0	0.80722	D	1	P;B;B	0.41910	0.764;0.131;0.277	B;B;B	0.38500	0.275;0.062;0.143	T	0.03840	-1.0999	10	0.56958	D	0.05	-9.7791	6.0112	0.19578	0.7222:0.2778:0.0:0.0	.	94;94;94	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	I	94;94;89	ENSP00000295171:T94I;ENSP00000387009:T94I;ENSP00000406839:T89I	ENSP00000295171:T94I	T	+	2	0	CCDC74A	132003720	0.973000	0.33851	0.267000	0.24556	0.598000	0.36846	1.220000	0.32491	0.152000	0.19188	0.194000	0.17425	ACA		0.527	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		30	312	0	0	0	1	0	30	312					T	132287250	C	T	132287250	3	4	79	1	0	0	0	0	1	0	0	0	2854	478	17	2	287	2	CCDC74A	2	132287250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49298	132287250	110912123	2880	13197											
CCDC74A	90557	broad.mit.edu	37	chr2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaactctcaaggcaaggCcaggccccagcccggctcct	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000295171.6	+	4	689	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577																																						ENST00000467992.2																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(856-858)gCc>gTc		coiled-coil domain containing 74A							12	25	21					2																	132289243		1601	3760	5361	SO:0001583	missense	90557							g.chr2:132289243C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.551C>T	2.37:g.132289243C>T	ENSP00000295171:p.Ala184Val					CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V|CCDC74A_ENST00000295171.6_Missense_Mutation_p.A184V	p.A286V			Q96AQ1	CC74A_HUMAN			2	1171	+			184					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.857C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100255	0.37048	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.57752	1.7;1.66;0.48;0.38	2.13	1.21	0.21127	.	0.703582	0.12409	N	0.471404	T	0.48205	0.1487	M	0.62723	1.935	0.09310	N	0.999999	P;P	0.46512	0.775;0.879	B;P	0.45167	0.436;0.472	T	0.41592	-0.9500	10	0.51188	T	0.08	-5.0991	4.0344	0.09724	0.0:0.7793:0.0:0.2207	.	118;184	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	184;118;113;286	ENSP00000295171:A184V;ENSP00000387009:A118V;ENSP00000406839:A113V;ENSP00000444610:A286V	ENSP00000295171:A184V	A	+	2	0	CCDC74A	132005713	0.099000	0.21834	0.997000	0.53966	0.743000	0.42351	-0.591000	0.05753	1.192000	0.43071	0.194000	0.17425	GCC		0.577	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		54	157	0	0	0	1	0	54	157					T	132289243	C	T	132289243	3	4	79	1	0	0	0	0	1	0	0	0	2854	739	26	2	565	2	CCDC74A	2	132289243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1993	132289243	110910130	2881	13198											
CCDC74A	90557	broad.mit.edu	37	chr2	132290261	132290261	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggggcacaccccccaatgatCctgccccttcccctgcgaaa	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(781-783)atC>atA		coiled-coil domain containing 74A							91	94	93					2																	132290261		2203	4300	6503	SO:0001819	synonymous_variant	90557							g.chr2:132290261C>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.783C>A	2.37:g.132290261C>A						CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	p.I261I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	921	+			261					Q6P4I5	Silent	SNP	ENST00000295171.6	37	c.783C>A	CCDS2167.1																																																																																				0.617	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		72	734	1	0	2.65773e-34	1	3.16036e-34	72	734					A	132290261	C	A	132290261	2	1	79	1	0	0	0	0	0	0	0	1	2854	845	30	3		3	CCDC74A	2	132290261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1018	132290261	110909112	2882	13199											
CCDC74A	90557	broad.mit.edu	37	chr2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctgccccttcccctgCgaaagcccaccacacttagg	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(799-801)Cga>Tga		coiled-coil domain containing 74A							78	81	80					2																	132290277		2203	4300	6503	SO:0001587	stop_gained	90557							g.chr2:132290277C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.799C>T	2.37:g.132290277C>T	ENSP00000295171:p.Arg267*					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	p.R267*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	937	+			267					Q6P4I5	Nonsense_Mutation	SNP	ENST00000295171.6	37	c.799C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	16.06	3.014665	0.54468	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	.	.	.	2.66	2.66	0.31614	.	0.235784	0.21781	U	0.069216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0698	0.36486	0.0:1.0:0.0:0.0	.	.	.	.	X	267;201	.	ENSP00000295171:R267X	R	+	1	2	CCDC74A	132006747	1.000000	0.71417	0.995000	0.50966	0.059000	0.15707	2.382000	0.44345	1.192000	0.43071	0.194000	0.17425	CGA		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		64	673	0	0	0	1	0	64	673					T	132290277	C	T	132290277	4	4	79	1	0	0	0	0	0	1	0	0	2854	760	27	1	817	1	CCDC74A	2	132290277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	132290277	110909096	2883	13200											
GPR39	2863	broad.mit.edu	37	chr2	133402688	133402688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggctgattgttgtgAcattggccgtatgctggatg	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	ENST00000329321.3	+	2	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	291					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATTGTTGTGACATTGGCCGT	0.493																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(871-873)Aca>Gca		G protein-coupled receptor 39							80	71	74					2																	133402688		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402688A>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.871A>G	2.37:g.133402688A>G	ENSP00000327417:p.Thr291Ala					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T291A	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1340	+			291					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.871A>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	A	4.756	0.140647	0.09083	.	.	ENSG00000183840	ENST00000329321	T	0.71103	-0.54	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.247415	0.41396	D	0.000889	T	0.44993	0.1320	N	0.04245	-0.25	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55945	-0.8060	10	0.02654	T	1	.	15.4493	0.75259	1.0:0.0:0.0:0.0	.	291	O43194	GPR39_HUMAN	A	291	ENSP00000327417:T291A	ENSP00000327417:T291A	T	+	1	0	GPR39	133119158	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	5.705000	0.68355	2.237000	0.73441	0.529000	0.55759	ACA		0.493	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			11	319	0	0	0	1	0	11	319					G	133402688	A	G	133402688	3	3	79	1	0	0	0	0	1	0	0	0	6722	275	10	4	877	4	GPR39	2	133402688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1112411	133402688	109796685	2884	13201											
GPR39	2863	broad.mit.edu	37	chr2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtacatgcgcactccaCcaccgacagcgcccgctttg	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	381					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1141-1143)aCc>aTc		G protein-coupled receptor 39							45	46	46					2																	133402959		2203	4299	6502	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402959C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1142C>T	2.37:g.133402959C>T	ENSP00000327417:p.Thr381Ile					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T381I	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1611	+			381					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1142C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566091	0.27915	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.94	2.04	0.26737	.	3.978600	0.00610	N	0.000413	T	0.58250	0.2109	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.3971	0.21618	0.1186:0.3915:0.4169:0.073	.	381	O43194	GPR39_HUMAN	I	381	ENSP00000327417:T381I	ENSP00000327417:T381I	T	+	2	0	GPR39	133119429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	0.240000	0.21263	-0.219000	0.12488	ACC		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			103	302	0	0	0	1	0	103	302					T	133402959	C	T	133402959	3	4	79	1	0	0	0	0	1	0	0	0	6722	507	18	2	1148	2	GPR39	2	133402959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	133402959	109796414	2885	13202											
GPR39	2863	broad.mit.edu	37	chr2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcccgctttgtgcagcGcccgttgctcttcgcgtccc	11	18	1	0	rs548819578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1168-1170)cGc>cAc		G protein-coupled receptor 39							41	43	43					2																	133402986		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402986G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	2.37:g.133402986G>A	ENSP00000327417:p.Arg390His					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R390H	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1638	+			390		R -> C (in dbSNP:rs16838944).			B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1169G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC		0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			43	384	0	0	0	1	0	43	384					A	133402986	G	A	133402986	3	1	79	1	0	0	0	0	1	0	0	0	6722	1087	38	1	1175	1	GPR39	2	133402986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	133402986	109796387	2886	13203											
LYPD1	116372	broad.mit.edu	37	chr2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggcgatgagacaggCcgctgatgatgcacaggact	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	76	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552																																						ENST00000397463.2																			0				lung(2)	2						c.(226-228)Gcc>Tcc		LY6/PLAUR domain containing 1							52	60	57					2																	133403818		2129	4237	6366	SO:0001583	missense	116372					anchored to membrane|plasma membrane		g.chr2:133403818C>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.226G>T	2.37:g.133403818C>A	ENSP00000380605:p.Ala76Ser					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR	p.A76S	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN			3	498	-			76			UPAR/Ly6.		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	c.226G>T	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372246	0.95923	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.86956	-2.19;-2.19	5.7	5.7	0.88788	Ly-6 antigen / uPA receptor -like (1);	0.128766	0.52532	D	0.000077	D	0.89588	0.6758	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91025	0.4860	10	0.87932	D	0	-8.1411	19.8936	0.96942	0.0:1.0:0.0:0.0	.	76;92	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	99;76;24	ENSP00000380605:A76S;ENSP00000340563:A24S	ENSP00000340563:A24S	A	-	1	0	LYPD1	133120288	1.000000	0.71417	0.964000	0.40570	0.874000	0.50279	7.601000	0.82783	2.716000	0.92895	0.650000	0.86243	GCC		0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		20	191	1	0	1.64113e-05	1	1.68037e-05	20	191					A	133403818	C	A	133403818	3	1	79	1	0	0	0	0	1	0	0	0	9148	739	26	3	203	3	LYPD1	2	133403818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832	133403818	109795555	2887	13204											
NCKAP5	344148	broad.mit.edu	37	chr2	133540013	133540013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcacagcatcagtcgcGgttgcagaggcatctggatg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATCAGTCGCGGTTGCAGAGG	0.507																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4369-4371)acC>acT		NCK-associated protein 5							52	51	52					2																	133540013		1922	4127	6049	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540013G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4371C>T	2.37:g.133540013G>A						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T	p.T1457T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4744	-			1457					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4371C>T	CCDS46418.1																																																																																				0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	231	0	0	0	1	0	8	231					A	133540013	G	A	133540013	2	1	79	1	0	0	0	0	0	0	0	1	10265	1103	39	1		1	NCKAP5	2	133540013	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136195	133540013	109659360	2888	13205											
NCKAP5	344148	broad.mit.edu	37	chr2	133540637	133540637	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggatcttctcatggaTctattatctaccccatccct	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1249										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTCATGGATCTATTATCTA	0.517																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3745-3747)agA>agG		NCK-associated protein 5							129	125	126					2																	133540637		1985	4166	6151	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540637T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3747A>G	2.37:g.133540637T>C						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R	p.R1249R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4120	-			1249					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3747A>G	CCDS46418.1																																																																																				0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		51	485	0	0	0	1	0	51	485					C	133540637	T	C	133540637	2	2	79	1	0	0	0	0	0	0	0	1	10265	1432	50	4		4	NCKAP5	2	133540637	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624	133540637	109658736	2889	13206											
NCKAP5	344148	broad.mit.edu	37	chr2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatgtttttctcagtgTcctcttcagaccttttaaag	7	8	3	1	rs146403790	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	738										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCAGTGTCCTCTTCAGA	0.428																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2212-2214)gAc>gGc		NCK-associated protein 5							68	64	65					2																	133542171		1848	4118	5966	SO:0001583	missense	344148						protein binding	g.chr2:133542171T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2213A>G	2.37:g.133542171T>C	ENSP00000387128:p.Asp738Gly					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G	p.D738G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2586	-			738					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2213A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.92	1.488547	0.26686	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.41400	1.0;1.0	5.2	4.05	0.47172	.	0.384947	0.18415	U	0.141921	T	0.21674	0.0522	N	0.08118	0	0.20074	N	0.999938	B	0.09022	0.002	B	0.06405	0.002	T	0.13176	-1.0519	10	0.38643	T	0.18	.	7.783	0.29077	0.0:0.1607:0.0:0.8393	.	738	O14513	NCKP5_HUMAN	G	738	ENSP00000387128:D738G;ENSP00000380603:D738G	ENSP00000380603:D738G	D	-	2	0	NCKAP5	133258641	0.966000	0.33281	0.285000	0.24819	0.962000	0.63368	1.727000	0.38095	1.017000	0.39495	0.529000	0.55759	GAC		0.428	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		16	304	0	0	0	1	0	16	304					C	133542171	T	C	133542171	3	2	79	1	0	0	0	0	1	0	0	0	10265	1667	58	4	3544	4	NCKAP5	2	133542171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1534	133542171	109657202	2890	13207											
NCKAP5	344148	broad.mit.edu	37	chr2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggttccttgcaggggCtccccaggtcagctgttttg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	459										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGCAGGGGCTCCCCAGGTC	0.468																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1375-1377)aGc>aAc		NCK-associated protein 5							55	54	54					2																	133543008		1878	4102	5980	SO:0001583	missense	344148						protein binding	g.chr2:133543008C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1376G>A	2.37:g.133543008C>T	ENSP00000387128:p.Ser459Asn					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N	p.S459N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	1749	-			459					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1376G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	9.912	1.209740	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10573	2.86;2.86	5.38	2.4	0.29515	.	0.181563	0.24942	U	0.034373	T	0.12178	0.0296	L	0.27053	0.805	0.19775	N	0.999957	D	0.58620	0.983	P	0.51453	0.67	T	0.08006	-1.0743	10	0.59425	D	0.04	.	10.4977	0.44788	0.1449:0.4593:0.3958:0.0	.	459	O14513	NCKP5_HUMAN	N	459	ENSP00000387128:S459N;ENSP00000380603:S459N	ENSP00000380603:S459N	S	-	2	0	NCKAP5	133259478	0.002000	0.14202	0.482000	0.27366	0.139000	0.21198	0.826000	0.27407	0.305000	0.22832	0.645000	0.84053	AGC		0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		20	245	0	0	0	1	0	20	245					T	133543008	C	T	133543008	3	4	79	1	0	0	0	0	1	0	0	0	10265	797	28	2	4381	2	NCKAP5	2	133543008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	837	133543008	109656365	2891	13208											
MGAT5	4249	broad.mit.edu	37	chr2	135028024	135028024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcaagttggagtcgaaGgtggacaatcttgttgtcaa	13	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(307-309)aaG>aaA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							130	117	121					2																	135028024		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135028024G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.309G>A	2.37:g.135028024G>A						MGAT5_ENST00000281923.2_Silent_p.K103K	p.K103K			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	3	561	+			103					D3DP70	Silent	SNP	ENST00000409645.1	37	c.309G>A	CCDS2171.1																																																																																				0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		29	263	0	0	0	1	0	29	263					A	135028024	G	A	135028024	2	1	79	1	0	0	0	0	0	0	0	1	9589	991	35	2		2	MGAT5	2	135028024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1485016	135028024	108171349	2892	13209											
MGAT5	4249	broad.mit.edu	37	chr2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcaacaaggacaaggAcatgctgaagtaagtgccct	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	673					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(2017-2019)gAc>gGc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							67	69	69					2																	135199477		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135199477A>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2018A>G	2.37:g.135199477A>G	ENSP00000386377:p.Asp673Gly					MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G	p.D673G			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	16	2270	+			673					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2018A>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858795	0.32884	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.19	5.19	0.71726	.	0.130520	0.64402	D	0.000002	T	0.50137	0.1598	L	0.40543	1.245	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.44636	-0.9315	9	0.22109	T	0.4	-27.4264	12.0579	0.53546	0.8464:0.1536:0.0:0.0	.	673	Q09328	MGT5A_HUMAN	G	673	.	ENSP00000281923:D673G	D	+	2	0	MGAT5	134915947	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.997000	0.76270	2.179000	0.69175	0.459000	0.35465	GAC		0.587	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		49	506	0	0	0	1	0	49	506					G	135199477	A	G	135199477	3	3	79	1	0	0	0	0	1	0	0	0	9589	275	10	4	2076	4	MGAT5	2	135199477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171453	135199477	107999896	2893	13210											
YSK4	80122	broad.mit.edu	37	chr2	135743506	135743506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttatctttctcatcaagaGctaataattctgcagctaga	6	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743506G>A	ENST00000375845.3	-	7	2966	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A866V|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A996V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	979							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTCATCAAGAGCTAATAATTC	0.353																																						ENST00000375845.3																			0											c.(2935-2937)gCt>gTt		mitogen-activated protein kinase kinase kinase 19							79	77	78					2																	135743506		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743506G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2936C>T	2.37:g.135743506G>A	ENSP00000365005:p.Ala979Val					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A996V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A866V|MAP3K19_ENST00000375844.3_Intron	p.A979V	NM_025052.3	NP_079328.3					7	2966	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2936C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548258	0.65311	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73152	-0.64;-0.62;1.55;-0.72	4.73	4.73	0.59995	.	0.000000	0.46442	D	0.000289	T	0.80401	0.4616	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.991	P;D;P	0.74023	0.896;0.982;0.79	T	0.79240	-0.1885	10	0.39692	T	0.17	.	10.2358	0.43282	0.0998:0.0:0.9002:0.0	.	866;996;979	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	979;866;996;369	ENSP00000365005:A979V;ENSP00000351140:A866V;ENSP00000376647:A996V;ENSP00000392827:A369V	ENSP00000351140:A866V	A	-	2	0	YSK4	135459976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.831000	0.69330	2.453000	0.82957	0.455000	0.32223	GCT		0.353	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		67	188	0	0	0	1	0	67	188					A	135743506	G	A	135743506	3	1	79	1	0	0	0	0	1	0	0	0	17549	971	34	2	1066	2	YSK4	2	135743506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	544029	135743506	107455867	2894	13211											
YSK4	80122	broad.mit.edu	37	chr2	135743975	135743975	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatttgattgttagaaatgtCtctatcaccagtagactctt	6	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743975C>A	ENST00000375845.3	-	7	2497	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D710Y|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D840Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	823							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTAGAAATGTCTCTATCACCA	0.418																																						ENST00000375845.3																			0											c.(2467-2469)Gac>Tac		mitogen-activated protein kinase kinase kinase 19							96	92	93					2																	135743975		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743975C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2467G>T	2.37:g.135743975C>A	ENSP00000365005:p.Asp823Tyr					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D840Y|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D710Y|MAP3K19_ENST00000375844.3_Intron	p.D823Y	NM_025052.3	NP_079328.3					7	2497	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2467G>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	7.415	0.635618	0.14322	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.76316	-0.95;-0.92;1.36;-1.01	4.87	3.99	0.46301	.	0.406324	0.20823	N	0.085038	T	0.81456	0.4826	L	0.42245	1.32	0.27706	N	0.945617	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.69479	0.939;0.964;0.87	T	0.73300	-0.4026	10	0.87932	D	0	.	9.5128	0.39087	0.0:0.8397:0.0:0.1603	.	710;840;823	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	823;710;840;213	ENSP00000365005:D823Y;ENSP00000351140:D710Y;ENSP00000376647:D840Y;ENSP00000392827:D213Y	ENSP00000351140:D710Y	D	-	1	0	YSK4	135460445	0.063000	0.20901	0.066000	0.19879	0.084000	0.17831	1.159000	0.31749	1.261000	0.44149	0.462000	0.41574	GAC		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		45	365	1	0	1.00953e-15	1	1.10482e-15	45	365					A	135743975	C	A	135743975	3	1	79	1	0	0	0	0	1	0	0	0	17549	913	32	3	1535	3	YSK4	2	135743975	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	135743975	107455398	2895	13212											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcttcagttaagaagaTcataaagcagataatatccc	5	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	807					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTAAGAAGATCATAAAGCAG	0.323																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2419-2421)aTc>aCc		RAB3 GTPase activating protein subunit 1 (catalytic)							90	103	98					2																	135920351		2202	4300	6502	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920351T>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2420T>C	2.37:g.135920351T>C	ENSP00000264158:p.Ile807Thr					RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR	p.I807T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	21	2463	+			807					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2420T>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	8.614	0.889897	0.17540	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	.	0.199980	0.52532	D	0.000062	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.08055	0.003;0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-21.2019	10.8727	0.46894	0.0:0.0697:0.0:0.9303	.	807;807	C9J837;Q15042	.;RB3GP_HUMAN	T	807;763;807	ENSP00000264158:I807T;ENSP00000444306:I763T;ENSP00000411418:I807T	ENSP00000264158:I807T	I	+	2	0	RAB3GAP1	135636821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.324000	0.78689	0.533000	0.62120	ATC		0.323	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		124	303	0	0	0	1	0	124	303					C	135920351	T	C	135920351	3	2	79	1	0	0	0	0	1	0	0	0	12985	1435	50	4	2502	4	RAB3GAP1	2	135920351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176376	135920351	107279022	2896	13213											
ZRANB3	84083	broad.mit.edu	37	chr2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaacataccttattTtcgatgactgcttctgtgca	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000264159.6	-	9	1196	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000401392.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	360	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATACCTTATTTTCGATGACTG	0.318																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1078-1080)gaA>gaC		zinc finger, RAN-binding domain containing 3							55	51	52					2																	136033212		1835	4084	5919	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136033212T>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1080A>C	2.37:g.136033212T>G	ENSP00000264159:p.Glu360Asp					ZRANB3_ENST00000264159.6_Missense_Mutation_p.E360D|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D	p.E360D			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	9	1292	-			360			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1080A>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183042	0.57800	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92699	-3.09;-3.09;-3.09	5.21	2.83	0.33086	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	N	0.21240	0.645	0.44789	D	0.997797	P;P;P	0.47302	0.893;0.802;0.454	B;P;P	0.49477	0.428;0.612;0.465	D	0.84716	0.0737	10	0.52906	T	0.07	3.0918	8.4771	0.33021	0.0:0.3001:0.0:0.6999	.	300;360;360	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	360;360;360;300	ENSP00000383979:E360D;ENSP00000264159:E360D;ENSP00000441320:E360D	ENSP00000264159:E360D	E	-	3	2	ZRANB3	135749682	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.787000	0.38704	0.309000	0.22966	-0.415000	0.06103	GAA		0.318	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		10	87	0	0	0	1	0	10	87					G	136033212	T	G	136033212	3	3	79	1	0	0	0	0	1	0	0	0	18277	1838	64	4	2211	4	ZRANB3	2	136033212	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112861	136033212	107166161	2897	13214											
R3HDM1	23518	broad.mit.edu	37	chr2	136399206	136399206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagtcttctcatggcgcAcctgtcgtctatccaactgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	ENST00000264160.4	+	15	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	440							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCATGGCGCACCTGTCGTCT	0.498																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1318-1320)gcA>gcG		R3H domain containing 1							193	174	180					2																	136399206		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136399206A>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1320A>G	2.37:g.136399206A>G						R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron	p.A440A	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1690	+			440					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1320A>G	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133237	0.21041	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.76	2.28	0.28536	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	-2.99	5.9648	0.19318	0.5055:0.2359:0.2587:0.0	.	.	.	.	A	129	.	.	T	+	1	0	R3HDM1	136115676	0.888000	0.30383	1.000000	0.80357	0.999000	0.98932	0.057000	0.14279	0.470000	0.27294	0.533000	0.62120	ACC		0.498	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		61	671	0	0	0	1	0	61	671					G	136399206	A	G	136399206	2	3	79	1	0	0	0	0	0	0	0	1	12937	146	6	4		4	R3HDM1	2	136399206	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	365994	136399206	106800167	2898	13215											
R3HDM1	23518	broad.mit.edu	37	chr2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgctgatggttctgaccCtcatgccgccatgttccagt	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000264160.4	+	17	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	564							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGTTCTGACCCTCATGCCGCC	0.502																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1690-1692)cCt>cTt		R3H domain containing 1							203	181	189					2																	136409370		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136409370C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1691C>T	2.37:g.136409370C>T	ENSP00000264160:p.Pro564Leu					R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L	p.P564L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2061	+			564					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1691C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863531	0.91511	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.42	5.42	0.78866	.	0.061254	0.64402	D	0.000002	T	0.68568	0.3015	M	0.75777	2.31	0.80722	D	1	D;P;D;D	0.61697	0.99;0.937;0.986;0.986	D;B;P;P	0.62955	0.909;0.328;0.674;0.674	T	0.71978	-0.4429	10	0.72032	D	0.01	-9.5794	19.2069	0.93734	0.0:1.0:0.0:0.0	.	436;565;509;564	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	L	436;564;435;509;565	ENSP00000386457:P436L;ENSP00000264160:P564L;ENSP00000331396:P435L;ENSP00000386877:P509L;ENSP00000387010:P565L	ENSP00000264160:P564L	P	+	2	0	R3HDM1	136125840	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.235000	0.58666	2.520000	0.84964	0.561000	0.74099	CCT		0.502	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		250	749	0	0	0	1	0	250	749					T	136409370	C	T	136409370	3	4	79	1	0	0	0	0	1	0	0	0	12937	681	24	2	1749	2	R3HDM1	2	136409370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10164	136409370	106790003	2899	13216											
R3HDM1	23518	broad.mit.edu	37	chr2	136481790	136481790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacaaattaactcagtTaacaagtttaagctgagaac	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000264160.4	+	26	3598	c.3228T>C	c.(3226-3228)gtT>gtC	p.V1076V	R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000410054.1_Silent_p.V1021V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1076							poly(A) RNA binding (GO:0044822)	p.V1076V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAACTCAGTTAACAAGTTTA	0.448																																						ENST00000264160.4																			1	Substitution - coding silent(1)	p.V1076V(1)	kidney(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3226-3228)gtT>gtC		R3H domain containing 1							66	61	63					2																	136481790		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136481790T>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3228T>C	2.37:g.136481790T>C						R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000329971.3_Silent_p.V947V	p.V1076V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3598	+			1076					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.3228T>C	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	5.230	0.227914	0.09916	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.74	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9318	8.1282	0.31012	0.0:0.1243:0.4865:0.3891	.	.	.	.	Q	800	.	.	X	+	1	0	R3HDM1	136198260	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.328000	0.19681	0.501000	0.28013	0.459000	0.35465	TAA		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		15	195	0	0	0	1	0	15	195					C	136481790	T	C	136481790	2	2	79	1	0	0	0	0	0	0	0	1	12937	1741	61	4		4	R3HDM1	2	136481790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72420	136481790	106717583	2900	13217											
UBXN4	23190	broad.mit.edu	37	chr2	136513182	136513182	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgaacctaacaacacTtgtgaaaactctcagtccag	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	143					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(427-429)acT>acG		UBX domain protein 4							104	99	101					2																	136513182		1852	4116	5968	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136513182T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.429T>G	2.37:g.136513182T>G						UBXN4_ENST00000490163.1_3'UTR	p.T143T	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			5	740	+			143					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.429T>G	CCDS42761.1																																																																																				0.398	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		90	250	0	0	0	1	0	90	250					G	136513182	T	G	136513182	2	3	79	1	0	0	0	0	0	0	0	1	16970	1596	56	4		4	UBXN4	2	136513182	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31392	136513182	106686191	2901	13218											
UBXN4	23190	broad.mit.edu	37	chr2	136533888	136533888	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcagttcccttctgatgcTcctctagaagaggcaaggca	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	340	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1018-1020)gcT>gcG		UBX domain protein 4							123	110	114					2																	136533888		1838	4092	5930	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136533888T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1020T>G	2.37:g.136533888T>G						UBXN4_ENST00000490163.1_3'UTR	p.A340A	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			10	1331	+			340			UBX.		A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.1020T>G	CCDS42761.1																																																																																				0.358	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		75	175	0	0	0	1	0	75	175					G	136533888	T	G	136533888	2	3	79	1	0	0	0	0	0	0	0	1	16970	1538	54	4		4	UBXN4	2	136533888	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20706	136533888	106665485	2902	13219											
UBXN4	23190	broad.mit.edu	37	chr2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacacttggaatggaaattCcactcaacagatgtagtgtg	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	504					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1510-1512)tCc>tTc		UBX domain protein 4							104	102	103					2																	136540441		1850	4100	5950	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136540441C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1511C>T	2.37:g.136540441C>T	ENSP00000272638:p.Ser504Phe					UBXN4_ENST00000490163.1_3'UTR	p.S504F	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			13	1822	+			504					A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1511C>T	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460317	0.84317	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.75050	-0.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89257	0.3595	10	0.87932	D	0	.	19.3516	0.94389	0.0:1.0:0.0:0.0	.	504	Q92575	UBXN4_HUMAN	F	504;486	ENSP00000272638:S504F	ENSP00000272638:S504F	S	+	2	0	UBXN4	136256911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.557000	0.86248	0.643000	0.83706	TCC		0.348	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		152	381	0	0	0	1	0	152	381					T	136540441	C	T	136540441	3	4	79	1	0	0	0	0	1	0	0	0	16970	855	30	2	1561	2	UBXN4	2	136540441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6553	136540441	106658932	2903	13220											
LCT	3938	broad.mit.edu	37	chr2	136567505	136567505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccagaagggccttcgaaGccatcaatgagggaacgagc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	804	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGCCTTCGAAGCCATCAATGA	0.443																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2410-2412)ggC>ggT		lactase							63	64	64					2																	136567505		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567505G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2412C>T	2.37:g.136567505G>A							p.G804G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2422	-			804			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2412C>T	CCDS2178.1																																																																																				0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		127	351	0	0	0	1	0	127	351					A	136567505	G	A	136567505	2	1	79	1	0	0	0	0	0	0	0	1	8724	958	34	2		2	LCT	2	136567505	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27064	136567505	106631868	2904	13221											
LCT	3938	broad.mit.edu	37	chr2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagattttcactttccCctatgggcatgccattcccg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	760	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCACTTTCCCCTATGGGCAT	0.443																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2278-2280)gGg>gAg		lactase							100	102	102					2																	136569955		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569955C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2279G>A	2.37:g.136569955C>T	ENSP00000264162:p.Gly760Glu						p.G760E	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2289	-			760			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2279G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571513	0.03882	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.36	1.61	0.23674	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.196938	0.43110	D	0.000601	T	0.11665	0.0284	N	0.12746	0.255	0.38293	D	0.942758	B	0.10296	0.003	B	0.18871	0.023	T	0.25502	-1.0130	10	0.02654	T	1	-13.6472	5.1686	0.15098	0.0:0.4355:0.2938:0.2706	.	760	P09848	LPH_HUMAN	E	760;192	ENSP00000264162:G760E	ENSP00000264162:G760E	G	-	2	0	LCT	136286425	0.931000	0.31567	0.996000	0.52242	0.975000	0.68041	1.299000	0.33424	0.591000	0.29711	0.655000	0.94253	GGG		0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		64	645	0	0	0	1	0	64	645					T	136569955	C	T	136569955	3	4	79	1	0	0	0	0	1	0	0	0	8724	623	22	2	3548	2	LCT	2	136569955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2450	136569955	106629418	2905	13222											
LCT	3938	broad.mit.edu	37	chr2	136570077	136570077	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaatccaagaggatgaggtCtggggccacacatggttcac	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	719	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGGATGAGGTCTGGGGCCACA	0.522																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2155-2157)caG>caA		lactase							96	95	95					2																	136570077		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570077C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2157G>A	2.37:g.136570077C>T							p.Q719Q	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2167	-			719			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2157G>A	CCDS2178.1																																																																																				0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		39	375	0	0	0	1	0	39	375					T	136570077	C	T	136570077	2	4	79	1	0	0	0	0	0	0	0	1	8724	912	32	2		2	LCT	2	136570077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	136570077	106629296	2906	13223											
LCT	3938	broad.mit.edu	37	chr2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgctctcattctgccatcCaccatgatcctgcagggcct	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	509	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCTGCCATCCACCATGATCC	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1525-1527)Gga>Tga		lactase							102	88	93					2																	136575093		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575093C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1525G>T	2.37:g.136575093C>A	ENSP00000264162:p.Gly509*						p.G509*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1535	-			509			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.1525G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677799	0.88445	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8763	19.7399	0.96223	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	ENSP00000264162:G509X	G	-	1	0	LCT	136291563	1.000000	0.71417	0.752000	0.31206	0.020000	0.10135	7.776000	0.85560	2.736000	0.93811	0.561000	0.74099	GGA		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		42	263	1	0	1.22674e-20	1	1.37621e-20	42	263					A	136575093	C	A	136575093	4	1	79	1	0	0	0	0	0	1	0	0	8724	603	21	3	4306	3	LCT	2	136575093	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5016	136575093	106624280	2907	13224											
LCT	3938	broad.mit.edu	37	chr2	136594308	136594308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtcagcaaaggcttcGgttctccggagggtgctggc	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	144	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAAAGGCTTCGGTTCTCCGGA	0.597																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(430-432)acC>acT		lactase							107	95	99					2																	136594308		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594308G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.432C>T	2.37:g.136594308G>A							p.T144T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	442	-			144			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.432C>T	CCDS2178.1																																																																																				0.597	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		77	201	0	0	0	1	0	77	201					A	136594308	G	A	136594308	2	1	79	1	0	0	0	0	0	0	0	1	8724	1103	39	1		1	LCT	2	136594308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19215	136594308	106605065	2908	13225											
MCM6	4175	broad.mit.edu	37	chr2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacatagtgtgtgagtcgatGaataactttctctatgattc	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	778					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)			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)		GTGAGTCGATGAATAACTTTC	0.418																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2332-2334)Cat>Tat		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						135	127	130					2																	136602132		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.chr2:136602132G>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.2332C>T	2.37:g.136602132G>A	ENSP00000264156:p.His778Tyr						p.H778Y	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	16	2392	-			778					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2332C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416079	0.42817	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	5.74	3.76	0.43208	.	0.417665	0.30227	N	0.010116	T	0.04092	0.0114	L	0.32530	0.975	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.56958	D	0.05	-2.0985	12.1062	0.53813	0.1072:0.0:0.8928:0.0	.	778	Q14566	MCM6_HUMAN	Y	778	ENSP00000264156:H778Y	ENSP00000264156:H778Y	H	-	1	0	MCM6	136318602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	0.622000	0.30249	0.650000	0.86243	CAT		0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		95	235	0	0	0	1	0	95	235					A	136602132	G	A	136602132	3	1	79	1	0	0	0	0	1	0	0	0	9432	1290	45	2	141	2	MCM6	2	136602132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7824	136602132	106597241	2909	13226											
MCM6	4175	broad.mit.edu	37	chr2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgattcgatttccttcaaGtaccagttaacaagctcgct	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	752					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)			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)		TTTCCTTCAAGTACCAGTTAA	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2254-2256)taC>taA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						152	145	147					2																	136602208		2203	4300	6503	SO:0001587	stop_gained	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.chr2:136602208G>T		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.2256C>A	2.37:g.136602208G>T	ENSP00000264156:p.Tyr752*					MCM6_ENST00000492091.1_5'UTR	p.Y752*	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	16	2316	-			752					B2R6H2|Q13504|Q99859	Nonsense_Mutation	SNP	ENST00000264156.2	37	c.2256C>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611460	0.96637	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.86	4.06	0.47325	.	0.111455	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1339	8.1078	0.30896	0.2921:0.0:0.7079:0.0	.	.	.	.	X	752	.	ENSP00000264156:Y752X	Y	-	3	2	MCM6	136318678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	1.488000	0.48433	0.650000	0.86243	TAC		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		40	435	1	0	2.26627e-22	1	2.56399e-22	40	435					T	136602208	G	T	136602208	4	4	79	1	0	0	0	0	0	1	0	0	9432	1024	36	3	217	3	MCM6	2	136602208	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	136602208	106597165	2910	13227											
MCM6	4175	broad.mit.edu	37	chr2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A													tgaatgcaaatctactatgcGcctggcaatggcataatctg					rs564036914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				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)			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)		TCTACTATGCGCCTGGCAATG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.001		0.0	False		,,,				2504	0.0				Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1651-1653)Cgc>Tgc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						92	86	88					2																	136610461		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.chr2:136610461G>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.1651C>T	2.37:g.136610461G>A	ENSP00000264156:p.Arg551Cys					MCM6_ENST00000492091.1_Intron	p.R551C	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1711	-			551			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1651C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650320	0.87958	.	.	ENSG00000076003	ENST00000264156	T	0.06768	3.26	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05273	-1.0895	10	0.87932	D	0	-9.537	15.9876	0.80174	0.0:0.0:0.8642:0.1358	.	551	Q14566	MCM6_HUMAN	C	551	ENSP00000264156:R551C	ENSP00000264156:R551C	R	-	1	0	MCM6	136326931	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.573000	0.82421	1.405000	0.46838	0.557000	0.71058	CGC		0.363	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		66	196	0	0	0	1	0	66	196					A	136610461	G	A	136610461	3	1	79	1	0	0	0	0	1	0	0	0	9432	1087	38	1	838	1	MCM6	2	136610461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8253	136610461	106588912	2911	13228	82	2									
MCM6	4175	broad.mit.edu	37	chr2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G													aatctactatgcgcctggcaAtggcataatctgtaacctaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	548	MCM.				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)			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)		GCGCCTGGCAATGGCATAATC	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1642-1644)aTt>aCt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						91	86	88					2																	136610469		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.chr2:136610469A>G		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.1643T>C	2.37:g.136610469A>G	ENSP00000264156:p.Ile548Thr					MCM6_ENST00000492091.1_Intron	p.I548T	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1703	-			548			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1643T>C	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457286	0.84317	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54105	-0.8343	10	0.87932	D	0	-18.6403	16.0818	0.81010	1.0:0.0:0.0:0.0	.	548	Q14566	MCM6_HUMAN	T	548	ENSP00000264156:I548T	ENSP00000264156:I548T	I	-	2	0	MCM6	136326939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.904000	0.92590	2.206000	0.71126	0.455000	0.32223	ATT		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		67	201	0	0	0	1	0	67	201					G	136610469	A	G	136610469	3	3	79	1	0	0	0	0	1	0	0	0	9432	101	4	4	846	4	MCM6	2	136610469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	136610469	106588904	2912	13229	82	2									
MCM6	4175	broad.mit.edu	37	chr2	136614334	136614334	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggataaagaagagatcGaatcgggacatgatgggagc	14	5	0	3	rs372757156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	530	MCM.				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)			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)		AGAAGAGATCGAATCGGGACA	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1588-1590)ttC>ttT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	G		1,4405	2.1+/-5.4	0,1,2202	137	132	134		1590	4.5	1	2		134	0,8600		0,0,4300	no	coding-synonymous	MCM6	NM_005915.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		530/822	136614334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:136614334G>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.1590C>T	2.37:g.136614334G>A						MCM6_ENST00000492091.1_Intron	p.F530F	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	11	1650	-			530			MCM.		B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1590C>T	CCDS2179.1																																																																																				0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		134	282	0	0	0	1	0	134	282					A	136614334	G	A	136614334	2	1	79	1	0	0	0	0	0	0	0	1	9432	1049	37	1		1	MCM6	2	136614334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3865	136614334	106585039	2913	13230											
MCM6	4175	broad.mit.edu	37	chr2	136627930	136627930	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacaggtaagggtaaaCtctgaaaaacaaaaaagtca	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	86					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)			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)		TAAGGGTAAACTCTGAAAAAC	0.433																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.e3-1		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						113	122	119					2																	136627930		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:136627930C>T		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.255-1G>A	2.37:g.136627930C>T							p.V86_splice	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	3	316	-			86					B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37	c.254_splice	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089667	0.55968	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.5	5.5	0.81552	Nucleic acid-binding, OB-fold-like (1);	0.055393	0.64402	D	0.000001	T	0.14013	0.0339	L	0.49513	1.565	0.80722	D	1	B	0.17852	0.024	B	0.20767	0.031	T	0.09079	-1.0691	10	0.21014	T	0.42	-21.2407	19.3903	0.94578	0.0:1.0:0.0:0.0	.	86	Q14566	MCM6_HUMAN	I	86	ENSP00000264156:V86I	ENSP00000264156:V86I	V	-	1	0	MCM6	136344400	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.859000	0.62954	2.578000	0.87016	0.650000	0.86243	GTT		0.433	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Missense_Mutation	218	546	0	0	0	1	0	218	546					T	136627930	C	T	136627930	5	4	79	1	0	0	0	0	0	0	1	0	9432	579	20	2	2269	2	MCM6	2	136627930	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13596	136627930	106571443	2914	13231											
DARS	1615	broad.mit.edu	37	chr2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcttcacaatattctagtCttagagttggctccaaaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	345					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(1033-1035)aGa>aAa		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						133	131	131					2																	136673868		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673868C>T	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1034G>A	2.37:g.136673868C>T	ENSP00000264161:p.Arg345Lys					DARS_ENST00000537273.1_Missense_Mutation_p.R245K	p.R345K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1249	-			345					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1034G>A	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.86865	-1.51;-2.18;-1.51	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.49350	1.555	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.78919	-0.2014	10	0.21014	T	0.42	-16.9407	19.6188	0.95647	0.0:1.0:0.0:0.0	.	345	P14868	SYDC_HUMAN	K	345;59;245	ENSP00000264161:R345K;ENSP00000387508:R59K;ENSP00000444192:R245K	ENSP00000264161:R345K	R	-	2	0	DARS	136390338	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.746000	0.68681	2.699000	0.92147	0.650000	0.86243	AGA		0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		45	465	0	0	0	1	0	45	465					T	136673868	C	T	136673868	3	4	79	1	0	0	0	0	1	0	0	0	4252	913	32	2	495	2	DARS	2	136673868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45938	136673868	106525505	2915	13232											
CXCR4	7852	broad.mit.edu	37	chr2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcagactcagtggaaacaGatgaatgtccacctcgcttt	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000241393.3	-	2	1120	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	CXCR4_ENST00000409817.1_Missense_Mutation_p.S343Y|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	339					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGTGGAAACAGATGAATGTCC	0.418																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1027-1029)tCt>tAt		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						180	172	175					2																	136872482		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872482G>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1016C>A	2.37:g.136872482G>T	ENSP00000241393:p.Ser339Tyr					CXCR4_ENST00000241393.3_Missense_Mutation_p.S339Y|CXCR4_ENST00000466288.1_5'UTR	p.S343Y	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	1331	-			339					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.1028C>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091409	0.36855	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61627	0.09;0.09	5.95	5.95	0.96441	.	0.195409	0.56097	D	0.000035	T	0.64605	0.2613	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.68032	-0.5516	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	339;343	P61073;P61073-2	CXCR4_HUMAN;.	Y	343;339;209	ENSP00000386884:S343Y;ENSP00000241393:S339Y	ENSP00000241393:S339Y	S	-	2	0	CXCR4	136588952	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT		0.418	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			11	78	1	0	0.0167234	1	0.0167961	11	78					T	136872482	G	T	136872482	3	4	79	1	0	0	0	0	1	0	0	0	4104	942	33	3	46	3	CXCR4	2	136872482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198614	136872482	106326891	2916	13233											
CXCR4	7852	broad.mit.edu	37	chr2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagaagcggtcacagAtatatctgtcatctgcctca	11	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000241393.3	-	2	658	c.554T>G	c.(553-555)aTc>aGc	p.I185S	CXCR4_ENST00000409817.1_Missense_Mutation_p.I189S|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCGGTCACAGATATATCTGTC	0.512																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(565-567)aTc>aGc		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						133	119	123					2																	136872944		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872944A>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.554T>G	2.37:g.136872944A>C	ENSP00000241393:p.Ile185Ser					CXCR4_ENST00000241393.3_Missense_Mutation_p.I185S|CXCR4_ENST00000466288.1_5'UTR	p.I189S	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	869	-			185			Chemokine binding, important for signaling and HIV-1 coreceptor activity.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.566T>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733907	0.30684	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.35973	1.28;1.28	6.17	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.32406	0.0828	N	0.26162	0.8	0.50467	D	0.999876	B;D	0.57899	0.376;0.981	P;P	0.46110	0.479;0.504	T	0.00867	-1.1534	10	0.24483	T	0.36	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	S	189;185;55	ENSP00000386884:I189S;ENSP00000241393:I185S	ENSP00000241393:I185S	I	-	2	0	CXCR4	136589414	0.962000	0.33011	0.834000	0.33040	0.470000	0.32858	6.178000	0.71968	1.161000	0.42604	-0.250000	0.11733	ATC		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			18	437	0	0	0	1	0	18	437					C	136872944	A	C	136872944	3	2	79	1	0	0	0	0	1	0	0	0	4104	333	12	4	508	4	CXCR4	2	136872944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462	136872944	106326429	2917	13234											
THSD7B	80731	broad.mit.edu	37	chr2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgtgaaattccctgccGaatggactgtgtgctgagcg	13	9	1	2	rs373017033		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	599						integral component of membrane (GO:0016021)				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)		ATTCCCTGCCGAATGGACTGT	0.488																																						ENST00000409968.1																			0				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						c.(1795-1797)cGa>cAa		thrombospondin, type I, domain containing 7B		G	GLN/ARG	1,3991		0,1,1995	95	96	95		1703	4.1	1	2		95	0,8316		0,0,4158	no	missense	THSD7B	NM_001080427.1	43	0,1,6153	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	568/1578	137988686	1,12307	1996	4158	6154	SO:0001583	missense	80731							g.chr2:137988686G>A			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.1796G>A	2.37:g.137988686G>A	ENSP00000387145:p.Arg599Gln					THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q	p.R599Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	8	1974	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1796G>A		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779624	0.70107	2.51E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	4.09	0.47781	.	0.705388	0.14196	N	0.334986	T	0.39759	0.1090	L	0.28115	0.83	0.80722	D	1	D;P	0.56746	0.977;0.938	B;B	0.40444	0.329;0.329	T	0.14783	-1.0460	10	0.34782	T	0.22	.	6.6903	0.23167	0.1639:0.2698:0.5663:0.0	.	599;568	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	599;599;568	ENSP00000387145:R599Q;ENSP00000272643:R599Q;ENSP00000413841:R568Q	ENSP00000272643:R599Q	R	+	2	0	THSD7B	137705156	0.927000	0.31430	0.992000	0.48379	0.969000	0.65631	4.797000	0.62503	1.503000	0.48686	0.563000	0.77884	CGA		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	228	0	0	0	1	0	17	228					A	137988686	G	A	137988686	3	1	79	1	0	0	0	0	1	0	0	0	15932	1058	37	1	1729	1	THSD7B	2	137988686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1115742	137988686	105210687	2918	13235											
THSD7B	80731	broad.mit.edu	37	chr2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaagaccatcactgaaCtcaaggacttgtgctgaaga	9	10	2	4	rs201127163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1163	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				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)		CATCACTGAACTCAAGGACTT	0.443																																						ENST00000409968.1																			0				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						c.(3481-3483)aaC>aaA		thrombospondin, type I, domain containing 7B							159	170	166					2																	138373804		2118	4225	6343	SO:0001583	missense	80731							g.chr2:138373804C>A			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.3483C>A	2.37:g.138373804C>A	ENSP00000387145:p.Asn1161Lys					THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K	p.N1161K						BRCA - Breast invasive adenocarcinoma(221;0.19)	18	3661	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3483C>A		.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466125	0.04476	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18174	2.23;2.23;2.23	5.2	0.0549	0.14312	.	0.564048	0.21965	N	0.066528	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35798	-0.9774	10	0.12103	T	0.63	.	4.6827	0.12743	0.1435:0.4232:0.0:0.4333	.	1133	C9JKN6	.	K	1161;1164;1133	ENSP00000387145:N1161K;ENSP00000272643:N1164K;ENSP00000413841:N1133K	ENSP00000272643:N1164K	N	+	3	2	THSD7B	138090274	0.005000	0.15991	0.089000	0.20774	0.130000	0.20726	0.048000	0.14078	0.049000	0.15920	0.650000	0.86243	AAC		0.443	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		60	641	1	0	2.93687e-30	1	3.44351e-30	60	641					A	138373804	C	A	138373804	3	1	79	1	0	0	0	0	1	0	0	0	15932	564	20	3	3461	3	THSD7B	2	138373804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385118	138373804	104825569	2919	13236											
SPOPL	339745	broad.mit.edu	37	chr2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtttttcgatatcagaatCgagtggaaataaatgattta	8	3	1	2	rs564888975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	240	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		15678	0.0		0.0	False		,,,				2504	0.001					ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(718-720)Cga>Tga		speckle-type POZ protein-like							53	56	55					2																	139318378		2203	4300	6503	SO:0001587	stop_gained	339745					nucleus		g.chr2:139318378C>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.718C>T	2.37:g.139318378C>T	ENSP00000280098:p.Arg240*						p.R240*	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	8	1097	+			240			BTB.			Nonsense_Mutation	SNP	ENST00000280098.4	37	c.718C>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.236883	0.98719	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.15	5.15	0.70609	.	0.192219	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6407	13.8908	0.63738	0.1525:0.8475:0.0:0.0	.	.	.	.	X	240	.	.	R	+	1	2	SPOPL	139034848	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.890000	0.69774	2.554000	0.86153	0.591000	0.81541	CGA		0.313	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			22	212	0	0	0	1	0	22	212					T	139318378	C	T	139318378	4	4	79	1	0	0	0	0	0	1	0	0	15137	876	31	1	744	1	SPOPL	2	139318378	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	944574	139318378	103880995	2920	13237											
LRP1B	53353	broad.mit.edu	37	chr2	140990894	140990894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggattggagtaatttgttGgctgaaggagaaaaaaaata	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4554					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)			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)		GTAATTTGTTGGCTGAAGGAG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.e91-1		low density lipoprotein receptor-related protein 1B							57	55	56					2																	140990894		2201	4293	6494	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990894G>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.13660-1C>T	2.37:g.140990894G>A		TSP Lung(27;0.18)					p.P4554_splice	NM_018557.2	NP_061027.2	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)	91	14632	-		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)	4554					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.13659_splice	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080957|4.080957	0.76528|0.76528	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.49720|.	0.77|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71117|.	0.3302|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	B|.	0.41571|.	0.36|.	T|.	0.66396|.	-0.5934|.	10|.	0.87932|.	D|.	0|.	.|.	19.8102|19.8102	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4554|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	4554;4492|753	ENSP00000374135:P4554L|.	ENSP00000374135:P4554L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140707364|140707364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.398000|6.398000	0.73244|0.73244	2.682000|2.682000	0.91365|0.91365	0.585000|0.585000	0.79938|0.79938	CCA|CAA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	19	194	0	0	0	1	0	19	194					A	140990894	G	A	140990894	5	1	79	1	0	0	0	0	0	0	1	0	8993	1362	47	2	142	2	LRP1B	2	140990894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1672516	140990894	102208479	2921	13238											
LRP1B	53353	broad.mit.edu	37	chr2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacttccatcatccccAatggtacatgattcagaatt	4	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4337	EGF-like 20. {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)			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)		CATCATCCCCAATGGTACATG	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(13009-13011)atT>atG		low density lipoprotein receptor-related protein 1B							143	114	124					2																	141032124		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032124A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13011T>G	2.37:g.141032124A>C	ENSP00000374135:p.Ile4337Met	TSP Lung(27;0.18)					p.I4337M	NM_018557.2	NP_061027.2	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)	85	13982	-		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)	4337			EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13011T>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.269|6.269	0.417832|0.417832	0.11870|0.11870	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90133|.	-2.62|.	5.36|5.36	-2.75|-2.75	0.05914|0.05914	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.189986|.	0.35320|.	U|.	0.003299|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.11427|0.11427	0.14|0.14	0.27396|0.27396	N|N	0.954992|0.954992	P|.	0.40476|.	0.718|.	B|.	0.33690|.	0.168|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.42905|.	T|.	0.14|.	.|.	3.9768|3.9768	0.09478|0.09478	0.492:0.0:0.2697:0.2383|0.492:0.0:0.2697:0.2383	.|.	4337|.	Q9NZR2|.	LRP1B_HUMAN|.	M|W	4337;4275|569;69	ENSP00000374135:I4337M|.	ENSP00000374135:I4337M|.	I|L	-|-	3|2	3|0	LRP1B|LRP1B	140748594|140748594	0.927000|0.927000	0.31430|0.31430	0.982000|0.982000	0.44146|0.44146	0.986000|0.986000	0.74619|0.74619	0.135000|0.135000	0.15952|0.15952	-0.221000|-0.221000	0.09973|0.09973	-0.333000|-0.333000	0.08304|0.08304	ATT|TTG		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	316	0	0	0	1	0	25	316					C	141032124	A	C	141032124	3	2	79	1	0	0	0	0	1	0	0	0	8993	126	5	4	816	4	LRP1B	2	141032124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41230	141032124	102167249	2922	13239											
LRP1B	53353	broad.mit.edu	37	chr2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccaggcttacagcgacaGaaaacagatgtttttatttg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3826	EGF-like 14. {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)			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)		TACAGCGACAGAAAACAGATG	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(11476-11478)ttC>ttA		low density lipoprotein receptor-related protein 1B							120	122	121					2																	141113963		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141113963G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11478C>A	2.37:g.141113963G>T	ENSP00000374135:p.Phe3826Leu	TSP Lung(27;0.18)					p.F3826L	NM_018557.2	NP_061027.2	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)	75	12449	-		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)	3826			EGF-like 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11478C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056885|2.056885	0.36277|0.36277	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.27557|.	1.66|.	5.83|5.83	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.405864|.	0.24373|.	N|.	0.039086|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.30927|0.30927	N|N	0.727314|0.727314	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	10|5	0.12766|.	T|.	0.61|.	.|.	5.3529|5.3529	0.16045|0.16045	0.2398:0.1613:0.5989:0.0|0.2398:0.1613:0.5989:0.0	.|.	3826|.	Q9NZR2|.	LRP1B_HUMAN|.	L|Y	3826;3764|58	ENSP00000374135:F3826L|.	ENSP00000374135:F3826L|.	F|S	-|-	3|2	2|0	LRP1B|LRP1B	140830433|140830433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.148000|1.148000	0.31614|0.31614	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		97	287	1	0	1.31458e-49	1	1.62656e-49	97	287					T	141113963	G	T	141113963	3	4	79	1	0	0	0	0	1	0	0	0	8993	933	33	3	2389	3	LRP1B	2	141113963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81839	141113963	102085410	2923	13240											
LRP1B	53353	broad.mit.edu	37	chr2	141114042	141114042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcacaggtatattcagtaGgagctgggatttaaaaatat	9	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141114042G>T	ENST00000389484.3	-	75	12370	c.11399C>A	c.(11398-11400)cCt>cAt	p.P3800H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3800					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)			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)		ATATTCAGTAGGAGCTGGGAT	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(11398-11400)cCt>cAt		low density lipoprotein receptor-related protein 1B							58	63	62					2																	141114042		2200	4298	6498	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141114042G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11399C>A	2.37:g.141114042G>T	ENSP00000374135:p.Pro3800His	TSP Lung(27;0.18)					p.P3800H	NM_018557.2	NP_061027.2	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)	75	12370	-		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)	3800					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11399C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478651|3.478651	0.63849|0.63849	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90004	.|-2.6	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);	.|0.393018	.|0.26289	.|N	.|0.025236	D|D	0.86112|0.86112	0.5855|0.5855	L|L	0.47716|0.47716	1.5|1.5	0.37760|0.37760	D|D	0.926296|0.926296	.|B	.|0.33448	.|0.412	.|B	.|0.36959	.|0.237	D|D	0.86918|0.86918	0.2065|0.2065	5|10	.|0.66056	.|D	.|0.02	.|.	11.0878|11.0878	0.48097|0.48097	0.111:0.0:0.889:0.0|0.111:0.0:0.889:0.0	.|.	.|3800	.|Q9NZR2	.|LRP1B_HUMAN	I|H	32|3800;3738	.|ENSP00000374135:P3800H	.|ENSP00000374135:P3800H	L|P	-|-	1|2	2|0	LRP1B|LRP1B	140830512|140830512	0.987000|0.987000	0.35691|0.35691	0.910000|0.910000	0.35882|0.35882	0.874000|0.874000	0.50279|0.50279	4.910000|4.910000	0.63321|0.63321	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	281	1	0	3.59834e-05	1	3.67436e-05	6	281					T	141114042	G	T	141114042	3	4	79	1	0	0	0	0	1	0	0	0	8993	1000	35	3	2468	3	LRP1B	2	141114042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	141114042	102085331	2924	13241											
LRP1B	53353	broad.mit.edu	37	chr2	141200074	141200074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtcacagacactcaccGcagttggcctcgtctgatgc	10	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.e66+1		low density lipoprotein receptor-related protein 1B							140	127	131					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200074G>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.10414+1C>T	2.37:g.141200074G>A		TSP Lung(27;0.18)					p.C3471_splice	NM_018557.2	NP_061027.2	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)	66	11384	-		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)	3471			LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.10414_splice	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	115	283	0	0	0	1	0	115	283					A	141200074	G	A	141200074	5	1	79	1	0	0	0	0	0	0	1	0	8993	1101	38	1	3490	1	LRP1B	2	141200074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86032	141200074	101999299	2925	13242											
LRP1B	53353	broad.mit.edu	37	chr2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagatccatcaccacAgtcatccacggtgtcacatt	5	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3342	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		CCATCACCACAGTCATCCACG	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(10024-10026)Tgt>Cgt		low density lipoprotein receptor-related protein 1B							128	126	127					2																	141208170		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141208170A>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.10024T>C	2.37:g.141208170A>G	ENSP00000374135:p.Cys3342Arg	TSP Lung(27;0.18)					p.C3342R	NM_018557.2	NP_061027.2	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)	63	10995	-		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)	3342			LDL-receptor class A 21.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10024T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704899	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	3342	Q9NZR2	LRP1B_HUMAN	R	3342;3280	ENSP00000374135:C3342R	ENSP00000374135:C3342R	C	-	1	0	LRP1B	140924640	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.245000	0.95431	2.225000	0.72522	0.477000	0.44152	TGT		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		128	310	0	0	0	1	0	128	310					G	141208170	A	G	141208170	3	3	79	1	0	0	0	0	1	0	0	0	8993	188	7	4	3891	4	LRP1B	2	141208170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8096	141208170	101991203	2926	13243											
LRP1B	53353	broad.mit.edu	37	chr2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccatcaggttgtctataaGaatgatacacctggatatct	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3266					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)			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)		TTGTCTATAAGAATGATACAC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9796-9798)tCt>tAt		low density lipoprotein receptor-related protein 1B							162	148	153					2																	141215049		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215049G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9797C>A	2.37:g.141215049G>T	ENSP00000374135:p.Ser3266Tyr	TSP Lung(27;0.18)					p.S3266Y	NM_018557.2	NP_061027.2	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)	61	10768	-		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)	3266					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9797C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353362	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.080321	0.52532	U	0.000066	D	0.91798	0.7405	M	0.63428	1.95	0.49915	D	0.999831	P	0.52842	0.956	P	0.48030	0.564	D	0.92527	0.6030	10	0.66056	D	0.02	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3266	Q9NZR2	LRP1B_HUMAN	Y	3266;3204	ENSP00000374135:S3266Y	ENSP00000374135:S3266Y	S	-	2	0	LRP1B	140931519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCT		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		144	371	1	0	6.69687e-66	1	8.47057e-66	144	371					T	141215049	G	T	141215049	3	4	79	1	0	0	0	0	1	0	0	0	8993	942	33	3	4126	3	LRP1B	2	141215049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6879	141215049	101984324	2927	13244											
LRP1B	53353	broad.mit.edu	37	chr2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaagacaagtctctgggaaActtcagccttttgctaacga	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3131					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)			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)		TCTCTGGGAAACTTCAGCCTT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9391-9393)Ttt>Att		low density lipoprotein receptor-related protein 1B							125	120	122					2																	141242946		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141242946A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9391T>A	2.37:g.141242946A>T	ENSP00000374135:p.Phe3131Ile	TSP Lung(27;0.18)					p.F3131I	NM_018557.2	NP_061027.2	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	10362	-		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)	3131					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9391T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374570	0.61735	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.139448	0.47852	D	0.000201	D	0.84750	0.5541	N	0.11427	0.14	0.30025	N	0.813992	P	0.42827	0.791	B	0.37650	0.255	D	0.83385	0.0014	10	0.40728	T	0.16	.	11.7383	0.51778	0.8528:0.1472:0.0:0.0	.	3131	Q9NZR2	LRP1B_HUMAN	I	3131;3069	ENSP00000374135:F3131I	ENSP00000374135:F3131I	F	-	1	0	LRP1B	140959416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.153000	0.64888	2.178000	0.69098	0.533000	0.62120	TTT		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		88	228	0	0	0	1	0	88	228					T	141242946	A	T	141242946	3	4	79	1	0	0	0	0	1	0	0	0	8993	43	2	5	4540	5	LRP1B	2	141242946	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27897	141242946	101956427	2928	13245											
LRP1B	53353	broad.mit.edu	37	chr2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcattcatcaatgtctAcacatgttttgccgtcatcc	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2967	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		ATCAATGTCTACACATGTTTT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(8899-8901)gTa>gGa		low density lipoprotein receptor-related protein 1B							140	125	130					2																	141253268		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253268A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8900T>G	2.37:g.141253268A>C	ENSP00000374135:p.Val2967Gly	TSP Lung(27;0.18)					p.V2967G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9871	-		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)	2967			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8900T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328978	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.73	5.73	0.89815	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.174205	0.37623	N	0.002007	D	0.92753	0.7696	N	0.12961	0.28	0.80722	D	1	P	0.51147	0.942	P	0.54759	0.76	D	0.91102	0.4915	10	0.23302	T	0.38	.	11.9202	0.52787	0.9304:0.0:0.0696:0.0	.	2967	Q9NZR2	LRP1B_HUMAN	G	2967;2905	ENSP00000374135:V2967G	ENSP00000374135:V2967G	V	-	2	0	LRP1B	140969738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.195000	0.70347	0.477000	0.44152	GTA		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		71	130	0	0	0	1	0	71	130					C	141253268	A	C	141253268	3	2	79	1	0	0	0	0	1	0	0	0	8993	391	14	4	5043	4	LRP1B	2	141253268	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10322	141253268	101946105	2929	13246											
LRP1B	53353	broad.mit.edu	37	chr2	141259311	141259311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatccactgactttcttaCtcaaacattcatttatatgg	3	10	3	1	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	ENST00000389484.3	-	55	9766	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2932	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GACTTTCTTACTCAAACATTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(8794-8796)aGt>aTt		low density lipoprotein receptor-related protein 1B							121	124	123					2																	141259311		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259311C>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.8795G>T	2.37:g.141259311C>A	ENSP00000374135:p.Ser2932Ile	TSP Lung(27;0.18)					p.S2932I	NM_018557.2	NP_061027.2	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)	55	9766	-		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)	2932			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8795G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275321	0.80580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.71	5.71	0.89125	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.058264	0.64402	U	0.000002	T	0.80008	0.4545	N	0.04116	-0.275	0.40241	D	0.977951	D	0.56521	0.976	P	0.47864	0.559	T	0.81662	-0.0831	10	0.30854	T	0.27	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	2932	Q9NZR2	LRP1B_HUMAN	I	2932;2870	ENSP00000374135:S2932I	ENSP00000374135:S2932I	S	-	2	0	LRP1B	140975781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	2.705000	0.92388	0.585000	0.79938	AGT		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	353	1	0	5.16669e-11	1	5.49905e-11	10	353					A	141259311	C	A	141259311	3	1	79	1	0	0	0	0	1	0	0	0	8993	565	20	3	5152	3	LRP1B	2	141259311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6043	141259311	101940062	2930	13247											
LRP1B	53353	broad.mit.edu	37	chr2	141283540	141283540	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttcactccaagcttataGaaatgtgtgcagtctgtgtt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2633	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		CAAGCTTATAGAAATGTGTGC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(7897-7899)ttC>ttT		low density lipoprotein receptor-related protein 1B							98	92	94					2																	141283540		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283540G>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.7899C>T	2.37:g.141283540G>A		TSP Lung(27;0.18)					p.F2633F	NM_018557.2	NP_061027.2	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)	49	8870	-		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)	2633			LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7899C>T	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	265	0	0	0	1	0	15	265					A	141283540	G	A	141283540	2	1	79	1	0	0	0	0	0	0	0	1	8993	933	33	2		2	LRP1B	2	141283540	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24229	141283540	101915833	2931	13248											
LRP1B	53353	broad.mit.edu	37	chr2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtccagtacagtgtaTcccaggctctgtgataggca	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2281					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)			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)		GTACAGTGTATCCCAGGCTCT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(6841-6843)gAt>gGt		low density lipoprotein receptor-related protein 1B							132	115	120					2																	141359166		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359166T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6842A>G	2.37:g.141359166T>C	ENSP00000374135:p.Asp2281Gly	TSP Lung(27;0.18)					p.D2281G	NM_018557.2	NP_061027.2	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)	42	7813	-		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)	2281					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6842A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639947	0.87760	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88586	-2.4	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.128995	0.49916	D	0.000131	D	0.93802	0.8018	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93964	0.7243	10	0.51188	T	0.08	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2281	Q9NZR2	LRP1B_HUMAN	G	2281;2219	ENSP00000374135:D2281G	ENSP00000374135:D2281G	D	-	2	0	LRP1B	141075636	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	GAT		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	189	0	0	0	1	0	15	189					C	141359166	T	C	141359166	3	2	79	1	0	0	0	0	1	0	0	0	8993	1435	50	4	7157	4	LRP1B	2	141359166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75626	141359166	101840207	2932	13249											
LRP1B	53353	broad.mit.edu	37	chr2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtattcccctgattccttCatgaacagagtacataagaa	7	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1887					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)			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)		CTGATTCCTTCATGAACAGAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(5659-5661)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							77	75	75					2																	141526881		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526881C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5659G>A	2.37:g.141526881C>T	ENSP00000374135:p.Glu1887Lys	TSP Lung(27;0.18)					p.E1887K	NM_018557.2	NP_061027.2	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)	35	6630	-		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)	1887					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5659G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775521	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.87270	0.2285	10	0.08381	T	0.77	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1887	Q9NZR2	LRP1B_HUMAN	K	1887;1825	ENSP00000374135:E1887K	ENSP00000374135:E1887K	E	-	1	0	LRP1B	141243351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GAA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	232	0	0	0	1	0	27	232					T	141526881	C	T	141526881	3	4	79	1	0	0	0	0	1	0	0	0	8993	835	29	2	8368	2	LRP1B	2	141526881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167715	141526881	101672492	2933	13250											
LRP1B	53353	broad.mit.edu	37	chr2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtttcttccgtctctTttgctgcaggttcctagctg	12	10	2	0	rs375834878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1805					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)			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)		TTCCGTCTCTTTTGCTGCAGG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(5413-5415)aaA>aaC		low density lipoprotein receptor-related protein 1B							126	122	123					2																	141533752		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533752T>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.5415A>C	2.37:g.141533752T>G	ENSP00000374135:p.Lys1805Asn	TSP Lung(27;0.18)					p.K1805N	NM_018557.2	NP_061027.2	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)	33	6386	-		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)	1805					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5415A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532527	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.69	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.94101	3.495	0.46096	D	0.998861	D	0.76494	0.999	D	0.80764	0.994	D	0.96344	0.9253	10	0.56958	D	0.05	.	11.3858	0.49785	0.0:0.0704:0.0:0.9296	.	1805	Q9NZR2	LRP1B_HUMAN	N	1805;1743	ENSP00000374135:K1805N	ENSP00000374135:K1805N	K	-	3	2	LRP1B	141250222	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.091000	0.41691	1.010000	0.39314	0.482000	0.46254	AAA		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	351	0	0	0	1	0	31	351					G	141533752	T	G	141533752	3	3	79	1	0	0	0	0	1	0	0	0	8993	1838	64	4	8620	4	LRP1B	2	141533752	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6871	141533752	101665621	2934	13251											
LRP1B	53353	broad.mit.edu	37	chr2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctctgatttcagaaCgtcttgcataaagaagaaat	6	10	3	4	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					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)			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)		GATTTCAGAACGTCTTGCATA	0.318										TSP Lung(27;0.18)			C|||	11	0.00219649	0.0083	0.0	5008	,	,		16035	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(4741-4743)cGt>cAt		low density lipoprotein receptor-related protein 1B		C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	83	75	78		4742	2.7	0.9	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense	LRP1B	NM_018557.2	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	1581/4600	141607868	8,12998	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607868C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4742G>A	2.37:g.141607868C>T	ENSP00000374135:p.Arg1581His	TSP Lung(27;0.18)					p.R1581H	NM_018557.2	NP_061027.2	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)	29	5713	-		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)	1581					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4742G>A	CCDS2182.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.46	2.542902	0.45280	0.001816	0.0	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91631	-2.88;1.47	5.54	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.88388	0.6423	L	0.56199	1.76	0.42541	D	0.993077	D;B	0.69078	0.997;0.001	D;B	0.64595	0.927;0.001	D	0.88028	0.2773	10	0.62326	D	0.03	.	8.6756	0.34176	0.0:0.6986:0.0:0.3014	.	764;1581	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1581;1519;726	ENSP00000374135:R1581H;ENSP00000413239:R726H	ENSP00000374135:R1581H	R	-	2	0	LRP1B	141324338	0.059000	0.20769	0.942000	0.38095	0.710000	0.40934	0.493000	0.22451	0.283000	0.22279	-0.657000	0.03884	CGT		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	171	0	0	0	1	0	16	171					T	141607868	C	T	141607868	3	4	79	1	0	0	0	0	1	0	0	0	8993	536	19	1	9309	1	LRP1B	2	141607868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74116	141607868	101591505	2935	13252											
LRP1B	53353	broad.mit.edu	37	chr2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacttcaatggcactgaCacctacaaaagaaggaaaac	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1323					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)			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)		ATGGCACTGACACCTACAAAA	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(3967-3969)Gtc>Atc		low density lipoprotein receptor-related protein 1B							94	89	90					2																	141641588		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641588C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3967G>A	2.37:g.141641588C>T	ENSP00000374135:p.Val1323Ile	TSP Lung(27;0.18)					p.V1323I	NM_018557.2	NP_061027.2	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)	25	4938	-		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)	1323					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3967G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177576	0.21787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-2.79;-3.96	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93455	0.7912	N	0.25144	0.715	0.52501	D	0.999953	B;D	0.53312	0.277;0.959	B;B	0.43950	0.145;0.437	D	0.92742	0.6209	10	0.33940	T	0.23	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	506;1323	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1323;1261;468	ENSP00000374135:V1323I;ENSP00000413239:V468I	ENSP00000374135:V1323I	V	-	1	0	LRP1B	141358058	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.728000	0.68531	2.751000	0.94390	0.591000	0.81541	GTC		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	350	0	0	0	1	0	34	350					T	141641588	C	T	141641588	3	4	79	1	0	0	0	0	1	0	0	0	8993	478	17	2	10100	2	LRP1B	2	141641588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33720	141641588	101557785	2936	13253											
LRP1B	53353	broad.mit.edu	37	chr2	141660727	141660727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccattgttcagcgaAcactcatctataaaaagggg	8	11	3	0	rs370546332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176	EGF-like 5. {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)			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)		TGTTCAGCGAACACTCATCTA	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(3526-3528)tgT>tgC		low density lipoprotein receptor-related protein 1B		A		0,4406		0,0,2203	73	63	67		3528	1.8	1	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1176/4600	141660727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141660727A>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.3528T>C	2.37:g.141660727A>G		TSP Lung(27;0.18)					p.C1176C	NM_018557.2	NP_061027.2	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)	23	4499	-		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)	1176					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3528T>C	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	257	0	0	0	1	0	7	257					G	141660727	A	G	141660727	2	3	79	1	0	0	0	0	0	0	0	1	8993	41	2	4		4	LRP1B	2	141660727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19139	141660727	101538646	2937	13254											
LRP1B	53353	broad.mit.edu	37	chr2	141665573	141665573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacacaagaaactgtcAcagtcatcttcatctgactg	7	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1131	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		AGAAACTGTCACAGTCATCTT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(3391-3393)tgT>tgC		low density lipoprotein receptor-related protein 1B							197	160	173					2																	141665573		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665573A>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.3393T>C	2.37:g.141665573A>G		TSP Lung(27;0.18)					p.C1131C	NM_018557.2	NP_061027.2	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)	22	4364	-		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)	1131			LDL-receptor class A 9.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3393T>C	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		125	297	0	0	0	1	0	125	297					G	141665573	A	G	141665573	2	3	79	1	0	0	0	0	0	0	0	1	8993	157	6	4		4	LRP1B	2	141665573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4846	141665573	101533800	2938	13255											
LRP1B	53353	broad.mit.edu	37	chr2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttaaactgatcatcagGacagctatgattgactggga	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(2659-2661)Cct>Tct		low density lipoprotein receptor-related protein 1B							115	107	110					2																	141747212		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747212G>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.2659C>T	2.37:g.141747212G>A	ENSP00000374135:p.Pro887Ser	TSP Lung(27;0.18)					p.P887S	NM_018557.2	NP_061027.2	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)	17	3630	-		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)	887			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2659C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815714	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91399	0.7286	N	0.21508	0.67	0.52501	D	0.999958	P	0.45672	0.864	P	0.48368	0.575	D	0.87747	0.2589	10	0.02654	T	1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	S	887;825	ENSP00000374135:P887S	ENSP00000374135:P887S	P	-	1	0	LRP1B	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		38	452	0	0	0	1	0	38	452					A	141747212	G	A	141747212	3	1	79	1	0	0	0	0	1	0	0	0	8993	1174	41	2	11440	2	LRP1B	2	141747212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81639	141747212	101452161	2939	13256											
LRP1B	53353	broad.mit.edu	37	chr2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtttaccagattttctaTggggatcatgtattcatcag	10	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	552					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)			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)		AGATTTTCTATGGGGATCATG	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(1654-1656)Ata>Gta		low density lipoprotein receptor-related protein 1B							187	182	184					2																	141806690		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806690T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1654A>G	2.37:g.141806690T>C	ENSP00000374135:p.Ile552Val	TSP Lung(27;0.18)					p.I552V	NM_018557.2	NP_061027.2	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)	11	2625	-		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)	552					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1654A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477058	0.26511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	L	0.55481	1.735	0.50632	D	0.999882	D	0.59357	0.985	D	0.67548	0.952	D	0.91523	0.5236	10	0.24483	T	0.36	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	552	Q9NZR2	LRP1B_HUMAN	V	552;490	ENSP00000374135:I552V	ENSP00000374135:I552V	I	-	1	0	LRP1B	141523160	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.929000	0.87595	2.074000	0.62210	0.460000	0.39030	ATA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		73	823	0	0	0	1	0	73	823					C	141806690	T	C	141806690	3	2	79	1	0	0	0	0	1	0	0	0	8993	1464	51	4	12469	4	LRP1B	2	141806690	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59478	141806690	101392683	2940	13257											
LRP1B	53353	broad.mit.edu	37	chr2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatattgattgtccattcatCtgttaatcctcctgcttttg	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	272					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)			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)		GTCCATTCATCTGTTAATCCT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(814-816)Gat>Aat		low density lipoprotein receptor-related protein 1B							126	126	126					2																	141986788		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986788C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.814G>A	2.37:g.141986788C>T	ENSP00000374135:p.Asp272Asn	TSP Lung(27;0.18)					p.D272N	NM_018557.2	NP_061027.2	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)	6	1785	-		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)	272					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.814G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936743	0.73557	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.2	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.270481	0.30930	U	0.008597	D	0.83317	0.5228	L	0.29908	0.895	0.30447	N	0.775605	B	0.09022	0.002	B	0.06405	0.002	T	0.72676	-0.4221	10	0.13470	T	0.59	.	13.7859	0.63110	0.0:0.9233:0.0:0.0767	.	272	Q9NZR2	LRP1B_HUMAN	N	272;210	ENSP00000374135:D272N	ENSP00000374135:D272N	D	-	1	0	LRP1B	141703258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.440000	0.82611	0.585000	0.79938	GAT		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	362	0	0	0	1	0	12	362					T	141986788	C	T	141986788	3	4	79	1	0	0	0	0	1	0	0	0	8993	913	32	2	13329	2	LRP1B	2	141986788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180098	141986788	101212585	2941	13258											
KYNU	8942	broad.mit.edu	37	chr2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaagtggggaagcgtcCttggattacaggagatgaga	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000410015.2	+	4	413	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000264170.4_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GGGAAGCGTCCTTGGATTACA	0.363																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(322-324)cCt>cAt		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						207	194	198					2																	143685260		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143685260C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.323C>A	2.37:g.143685260C>A	ENSP00000387296:p.Pro108His					KYNU_ENST00000409512.1_Missense_Mutation_p.P108H|KYNU_ENST00000410015.2_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H	p.P108H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	4	581	+			108						Missense_Mutation	SNP	ENST00000410015.2	37	c.323C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.134064	0.77662	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.54675	0.56;0.56;0.56	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.92970	3.365	0.48135	D	0.999597	D;D	0.89917	0.998;1.0	D;D	0.91635	0.969;0.999	D	0.83707	0.0185	10	0.72032	D	0.01	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	108;108	Q16719;Q9BVW3	KYNU_HUMAN;.	H	108	ENSP00000264170:P108H;ENSP00000364928:P108H;ENSP00000386731:P108H	ENSP00000264170:P108H	P	+	2	0	KYNU	143401730	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.831000	0.62752	2.792000	0.96026	0.557000	0.71058	CCT		0.363	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		212	476	1	0	1.10809e-103	1	1.42563e-103	212	476					A	143685260	C	A	143685260	3	1	79	1	0	0	0	0	1	0	0	0	8618	681	24	3	333	3	KYNU	2	143685260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698472	143685260	99514113	2942	13259											
KYNU	8942	broad.mit.edu	37	chr2	143742745	143742745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttgcctgctggtgttcCtacaaggtacaaacgagtta	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GCTGGTGTTCCTACAAGGTAC	0.393																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(820-822)tcC>tcA		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						208	194	199					2																	143742745		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143742745C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.822C>A	2.37:g.143742745C>A						KYNU_ENST00000409512.1_Silent_p.S274S|KYNU_ENST00000375773.2_Silent_p.S274S	p.S274S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	9	1080	+			274						Silent	SNP	ENST00000264170.4	37	c.822C>A	CCDS2183.1																																																																																				0.393	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		33	401	1	0	9.65021e-13	1	1.03847e-12	33	401					A	143742745	C	A	143742745	2	1	79	1	0	0	0	0	0	0	0	1	8618	668	24	3		3	KYNU	2	143742745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57485	143742745	99456628	2943	13260											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatatatttgcagatatccaGacacagaaggaatcattcac	6	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000295095.6	+	3	340	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R58I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	58					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(172-174)aGa>aTa		Rho GTPase activating protein 15							109	109	109					2																	143959710		2203	4299	6502	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959710G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.173G>T	2.37:g.143959710G>T	ENSP00000295095:p.Arg58Ile					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R58I	p.R58I			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	350	+			58					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.173G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612348	0.87258	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08282	3.11	5.61	5.61	0.85477	.	0.068772	0.64402	D	0.000014	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.71184	0.972;0.495	T	0.02064	-1.1220	10	0.27082	T	0.32	.	17.8083	0.88608	0.0:0.0:1.0:0.0	.	58;58	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	58	ENSP00000295095:R58I	ENSP00000295095:R58I	R	+	2	0	ARHGAP15	143676180	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.321000	0.72881	2.646000	0.89796	0.585000	0.79938	AGA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		57	237	1	0	2.75338e-15	1	3.00596e-15	57	237					T	143959710	G	T	143959710	3	4	79	1	0	0	0	0	1	0	0	0	866	942	33	3	179	3	ARHGAP15	2	143959710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216965	143959710	99239663	2944	13261											
ARHGAP15	55843	broad.mit.edu	37	chr2	143974006	143974006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaattgcagatggaggaaaGaaactaaggtaataaaattc	9	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000295095.6	+	4	455	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000409869.1_Silent_p.K96K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(286-288)aaG>aaA		Rho GTPase activating protein 15							76	80	79					2																	143974006		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143974006G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.288G>A	2.37:g.143974006G>A						ARHGAP15_ENST00000295095.6_Silent_p.K96K	p.K96K			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	5	465	+			96			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.288G>A	CCDS2184.1																																																																																				0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		23	219	0	0	0	1	0	23	219					A	143974006	G	A	143974006	2	1	79	1	0	0	0	0	0	0	0	1	866	933	33	2		2	ARHGAP15	2	143974006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14296	143974006	99225367	2945	13262											
GTDC1	79712	broad.mit.edu	37	chr2	144764985	144764985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattaaaattcttcaataaAtcctctgaatctctctgctc	3	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000409214.1_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000542155.1_Silent_p.D213D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	213					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(637-639)gaT>gaC		glycosyltransferase-like domain containing 1							81	81	81					2																	144764985		2203	4300	6503	SO:0001819	synonymous_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764985A>G	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.639T>C	2.37:g.144764985A>G						GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392869.1_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D	p.D213D	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	917	-			213					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	c.639T>C	CCDS33300.1																																																																																				0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		35	373	0	0	0	1	0	35	373					G	144764985	A	G	144764985	2	3	79	1	0	0	0	0	0	0	0	1	6881	98	4	4		4	GTDC1	2	144764985	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	790979	144764985	98434388	2946	13263											
ZEB2	9839	broad.mit.edu	37	chr2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcgtatcgtttcgggaTccgtatccatacttttattt	6	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1175	Glu-rich (acidic).				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)			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)		CGTTTCGGGATCCGTATCCAT	0.493																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(3523-3525)gAt>gGt		zinc finger E-box binding homeobox 2							245	229	234					2																	145147139		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.chr2:145147139T>C	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.3524A>G	2.37:g.145147139T>C	ENSP00000454157:p.Asp1175Gly					ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G	p.D1175G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4708	-			1175			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3524A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396880	0.83120	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15017	2.49;2.46;2.46	5.51	5.51	0.81932	.	0.091701	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	B;B;B	0.20780	0.02;0.048;0.048	B;B;B	0.19946	0.027;0.012;0.012	T	0.10800	-1.0614	10	0.87932	D	0	-15.0669	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1151;1174;1175	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	G	1151;1175;1175	ENSP00000443792:D1151G;ENSP00000302501:D1175G;ENSP00000386854:D1175G	ENSP00000302501:D1175G	D	-	2	0	ZEB2	144863609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	GAT		0.493	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		96	1082	0	0	0	1	0	96	1082					C	145147139	T	C	145147139	3	2	79	1	0	0	0	0	1	0	0	0	17677	1435	50	4	124	4	ZEB2	2	145147139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	382154	145147139	98052234	2947	13264											
ZEB2	9839	broad.mit.edu	37	chr2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcctgggtatggtcGtagcccaggaatactggtct	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	921					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)			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)		GGGTATGGTCGTAGCCCAGGA	0.498																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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	GRCh37	CM052018	ZEB2	M		c.(2761-2763)Cga>Tga		zinc finger E-box binding homeobox 2							164	160	161					2																	145155993		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145155993G>A	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.2761C>T	2.37:g.145155993G>A	ENSP00000454157:p.Arg921*					ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*	p.R921*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3945	-			921					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.2761C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	39	7.517277	0.98332	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6124	15.7551	0.78018	0.0:0.0:0.863:0.137	.	.	.	.	X	897;921;921	.	ENSP00000302501:R921X	R	-	1	2	ZEB2	144872463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.499000	0.53310	2.763000	0.94921	0.563000	0.77884	CGA		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		58	601	0	0	0	1	0	58	601					A	145155993	G	A	145155993	4	1	79	1	0	0	0	0	0	1	0	0	17677	1153	40	1	895	1	ZEB2	2	145155993	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8854	145155993	98043380	2948	13265											
ZEB2	9839	broad.mit.edu	37	chr2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatgttttcatgaggctGcaggaccgccttgatctctt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	615					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)			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)		TCATGAGGCTGCAGGACCGCC	0.443																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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	GRCh37	CM072129	ZEB2	M		c.(1843-1845)Cag>Tag		zinc finger E-box binding homeobox 2							97	98	98					2																	145156911		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156911G>A	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.1843C>T	2.37:g.145156911G>A	ENSP00000454157:p.Gln615*					ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*	p.Q615*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3027	-			615					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.1843C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082755	0.94050	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	.	0.048076	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.9462	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	591;615;615;615	.	ENSP00000302501:Q615X	Q	-	1	0	ZEB2	144873381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.872000	0.87187	2.705000	0.92388	0.655000	0.94253	CAG		0.443	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		117	243	0	0	0	1	0	117	243					A	145156911	G	A	145156911	4	1	79	1	0	0	0	0	0	1	0	0	17677	1328	46	2	1813	2	ZEB2	2	145156911	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	145156911	98042462	2949	13266											
ZEB2	9839	broad.mit.edu	37	chr2	145161567	145161567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctacagagagggcaggaAaagttctcttcattcttctc	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	241					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)			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)		GAGGGCAGGAAAAGTTCTCTT	0.562																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(721-723)ttT>ttC		zinc finger E-box binding homeobox 2							250	239	243					2																	145161567		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161567A>G	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.723T>C	2.37:g.145161567A>G						ZEB2_ENST00000539609.3_Silent_p.F217F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000303660.4_Silent_p.F241F	p.F241F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1907	-			241					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.723T>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	6.344	0.431506	0.12045	.	.	ENSG00000169554	ENST00000419938	T	0.32988	1.43	5.65	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.72032	D	0.01	-9.4435	8.6271	0.33897	0.6345:0.0:0.3655:0.0	.	.	.	.	S	130	ENSP00000394777:F130S	ENSP00000394777:F130S	F	-	2	0	ZEB2	144878037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.639000	0.37176	0.118000	0.18165	0.533000	0.62120	TTT		0.562	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		68	599	0	0	0	1	0	68	599					G	145161567	A	G	145161567	2	3	79	1	0	0	0	0	0	0	0	1	17677	11	1	4		4	ZEB2	2	145161567	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4656	145161567	98037806	2950	13267											
ZEB2	9839	broad.mit.edu	37	chr2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagcaatatgaagctTgtcttcctcatctgtttcag	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	43					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)			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)		ATATGAAGCTTGTCTTCCTCA	0.488																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(127-129)Aag>Gag		zinc finger E-box binding homeobox 2							132	101	111					2																	145187540		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.chr2:145187540T>C	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.127A>G	2.37:g.145187540T>C	ENSP00000454157:p.Lys43Glu					ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E	p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	1311	-			43					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.127A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766447	0.69878	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.9	5.9	0.94986	.	0.047892	0.85682	D	0.000000	D	0.92512	0.7622	M	0.70595	2.14	0.58432	D	0.999999	P;P;D;B;B	0.67145	0.804;0.622;0.996;0.39;0.39	B;B;P;B;B	0.55923	0.213;0.152;0.787;0.074;0.074	D	0.93282	0.6661	10	0.87932	D	0	-15.9296	16.3291	0.83001	0.0:0.0:0.0:1.0	.	43;43;43;43;43	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	E	38;43;43;43;43;43;43;43;43	ENSP00000443792:K43E;ENSP00000302501:K43E;ENSP00000386854:K43E;ENSP00000395496:K43E;ENSP00000376601:K43E;ENSP00000387256:K43E;ENSP00000400993:K43E;ENSP00000399451:K43E	ENSP00000302501:K43E	K	-	1	0	ZEB2	144904010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.586000	0.82596	2.257000	0.74773	0.528000	0.53228	AAG		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		99	244	0	0	0	1	0	99	244					C	145187540	T	C	145187540	3	2	79	1	0	0	0	0	1	0	0	0	17677	1821	63	4	3549	4	ZEB2	2	145187540	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25973	145187540	98011833	2951	13268											
ACVR2A	92	broad.mit.edu	37	chr2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggatgcatttttgaggataGatatgtatgccatgggatta	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N|ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTTGAGGATAGATATGTATGC	0.398																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1156-1158)Gat>Aat		activin A receptor, type IIA							183	189	187					2																	148680620		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148680620G>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1156G>A	2.37:g.148680620G>A	ENSP00000241416:p.Asp386Asn					ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N|ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N	p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	9	1792	+			386			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1156G>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804209	0.96967	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.99394	-5.82;-5.82;-5.82	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97380	0.9982	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	386	P27037	AVR2A_HUMAN	N	386;278;386	ENSP00000241416:D386N;ENSP00000439988:D278N;ENSP00000384338:D386N	ENSP00000241416:D386N	D	+	1	0	ACVR2A	148397090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GAT		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		33	969	0	0	0	1	0	33	969					A	148680620	G	A	148680620	3	1	79	1	0	0	0	0	1	0	0	0	223	942	33	2	1190	2	ACVR2A	2	148680620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493080	148680620	94518753	2952	13269											
ORC4L	5000	broad.mit.edu	37	chr2	148705663	148705663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaaaccttgtctggaAactctgcaggtagagataac	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148705663A>C	ENST00000392857.5	-	9	826	c.719T>G	c.(718-720)tTt>tGt	p.F240C	ORC4_ENST00000392858.1_Missense_Mutation_p.F240C|ORC4_ENST00000535373.1_Missense_Mutation_p.F240C|ORC4_ENST00000542387.1_Missense_Mutation_p.F23C|ORC4_ENST00000536575.1_Missense_Mutation_p.F156C|ORC4_ENST00000264169.2_Missense_Mutation_p.F240C|ORC4_ENST00000540442.1_Missense_Mutation_p.F166C	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	240					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTTGTCTGGAAACTCTGCAGG	0.323																																						ENST00000535373.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(718-720)tTt>tGt		origin recognition complex, subunit 4							60	68	66					2																	148705663		2203	4295	6498	SO:0001583	missense	5000				cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705663A>C	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.719T>G	2.37:g.148705663A>C	ENSP00000376597:p.Phe240Cys					ORC4_ENST00000392857.4_Missense_Mutation_p.F240C|ORC4_ENST00000264169.2_Missense_Mutation_p.F240C|ORC4_ENST00000536575.1_Missense_Mutation_p.F156C|ORC4_ENST00000392858.1_Missense_Mutation_p.F240C|ORC4_ENST00000540442.1_Missense_Mutation_p.F166C|ORC4_ENST00000542387.1_Missense_Mutation_p.F23C	p.F240C	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN			10	1151	-			240					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	c.719T>G	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118094	0.77323	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.985;0.985	D	0.87781	0.2612	10	0.35671	T	0.21	-18.5534	16.214	0.82191	1.0:0.0:0.0:0.0	.	240;240;240	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	C	240;240;240;166;156;240;23	ENSP00000264169:F240C;ENSP00000441953:F240C;ENSP00000376598:F240C;ENSP00000438326:F166C;ENSP00000441502:F156C;ENSP00000376597:F240C;ENSP00000437440:F23C	ENSP00000264169:F240C	F	-	2	0	ORC4	148422133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.737000	0.91562	2.224000	0.72417	0.528000	0.53228	TTT		0.323	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		55	325	0	0	0	1	0	55	325					C	148705663	A	C	148705663	3	2	79	1	0	0	0	0	1	0	0	0	11306	14	1	4	615	4	ORC4L	2	148705663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25043	148705663	94493710	2953	13270											
MBD5	55777	broad.mit.edu	37	chr2	149243447	149243447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaccagaatctccaggcGttccaaggacagtccacaat	10	12	1	1	rs572893308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A994A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16638	0.0		0.0	False		,,,				2504	0.0					ENST00000407073.1																			1	Substitution - coding silent(1)	p.A994A(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2980-2982)gcG>gcA		methyl-CpG binding domain protein 5							116	119	118					2																	149243447		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149243447G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2982G>A	2.37:g.149243447G>A						MBD5_ENST00000404807.1_Silent_p.A1227A	p.A994A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	3979	+			994					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.2982G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	MBD5	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT		0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			110	339	0	0	0	1	0	110	339					A	149243447	G	A	149243447	2	1	79	1	0	0	0	0	0	0	0	1	9388	1132	40	1		1	MBD5	2	149243447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537784	149243447	93955926	2954	13271											
MBD5	55777	broad.mit.edu	37	chr2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagtgctgtcagtgCggtcattcatggacggaaca	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A1142V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502																																						ENST00000407073.1																			1	Substitution - Missense(1)	p.A1142V(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3424-3426)gCg>gTg		methyl-CpG binding domain protein 5							89	89	89					2																	149247325		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247325C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3425C>T	2.37:g.149247325C>T	ENSP00000386049:p.Ala1142Val					MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	p.A1142V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4422	+			1142					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.3425C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	MBD5	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			112	286	0	0	0	1	0	112	286					T	149247325	C	T	149247325	3	4	79	1	0	0	0	0	1	0	0	0	9388	768	27	1	3451	1	MBD5	2	149247325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3878	149247325	93952048	2955	13272											
MBD5	55777	broad.mit.edu	37	chr2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T													ggcctggaaaattagtaagaGaagacgacgttcacaattca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4216-4218)Gaa>Taa		methyl-CpG binding domain protein 5							75	73	74					2																	149248116		2203	4300	6503	SO:0001587	stop_gained	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248116G>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4216G>T	2.37:g.149248116G>T	ENSP00000386049:p.Glu1406*					MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	p.E1406*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5213	+			1406			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.4216G>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	17.259051	0.99882	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1406;1639	.	ENSP00000384672:E1639X	E	+	1	0	MBD5	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA		0.403	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			30	355	1	0	9.39395e-14	1	1.01619e-13	30	355					T	149248116	G	T	149248116	4	4	79	1	0	0	0	0	0	1	0	0	9388	943	33	3	4242	3	MBD5	2	149248116	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	149248116	93951257	2956	13273	83	2									
MBD5	55777	broad.mit.edu	37	chr2	149248121	149248121	+	Silent	SNP	C	C	T													ggaaaattagtaagagaagaCgacgttcacaattcatgtca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1407	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGAGAAGACGACGTTCACA	0.408																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4219-4221)gaC>gaT		methyl-CpG binding domain protein 5							76	74	74					2																	149248121		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248121C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4221C>T	2.37:g.149248121C>T						MBD5_ENST00000404807.1_Silent_p.D1640D	p.D1407D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5218	+			1407			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.4221C>T	CCDS33302.1																																																																																				0.408	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			110	273	0	0	0	1	0	110	273					T	149248121	C	T	149248121	2	4	79	1	0	0	0	0	0	0	0	1	9388	535	19	1		1	MBD5	2	149248121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	149248121	93951252	2957	13274	83	2									
EPC2	26122	broad.mit.edu	37	chr2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattaagagaagagagaaaAcaaaacgagaattattgcac	9	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	257					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(769-771)Aca>Gca		enhancer of polycomb homolog 2 (Drosophila)							79	73	75					2																	149519453		1825	4078	5903	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149519453A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.769A>G	2.37:g.149519453A>G	ENSP00000258484:p.Thr257Ala						p.T257A	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	5	803	+			257					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.769A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328373	0.60743	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.6	5.6	0.85130	.	0.115719	0.56097	D	0.000030	T	0.45438	0.1342	N	0.26042	0.785	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34775	-0.9815	9	0.30854	T	0.27	-4.0144	15.7881	0.78326	1.0:0.0:0.0:0.0	.	257	Q52LR7	EPC2_HUMAN	A	257	.	ENSP00000258484:T257A	T	+	1	0	EPC2	149235923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.309000	0.59135	2.137000	0.66172	0.482000	0.46254	ACA		0.343	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		16	62	0	0	0	1	0	16	62					G	149519453	A	G	149519453	3	3	79	1	0	0	0	0	1	0	0	0	5179	43	2	4	787	4	EPC2	2	149519453	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271332	149519453	93679920	2958	13275											
EPC2	26122	broad.mit.edu	37	chr2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A													acaataaaagagtttctgcaGcatctgtagctttattgaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	560					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1678-1680)Gca>Aca		enhancer of polycomb homolog 2 (Drosophila)							130	125	126					2																	149528914		1881	4100	5981	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528914G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1678G>A	2.37:g.149528914G>A	ENSP00000258484:p.Ala560Thr						p.A560T	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1712	+			560					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1678G>A	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000135999	ENST00000258484	T	0.20598	2.06	5.34	5.34	0.76211	.	0.125508	0.52532	D	0.000061	T	0.10766	0.0263	N	0.03608	-0.345	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.21143	-1.0254	10	0.30854	T	0.27	-4.3089	14.1134	0.65137	0.0:0.1499:0.8501:0.0	.	560	Q52LR7	EPC2_HUMAN	T	560	ENSP00000258484:A560T	ENSP00000258484:A560T	A	+	1	0	EPC2	149245384	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.340000	0.52143	2.646000	0.89796	0.563000	0.77884	GCA		0.373	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		108	504	0	0	0	1	0	108	504					A	149528914	G	A	149528914	3	1	79	1	0	0	0	0	1	0	0	0	5179	971	34	2	1716	2	EPC2	2	149528914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9461	149528914	93670459	2959	13276	84	2									
EPC2	26122	broad.mit.edu	37	chr2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T													agtttctgcagcatctgtagCtttattgaacaccagcaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	563					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1687-1689)gCt>gTt		enhancer of polycomb homolog 2 (Drosophila)							127	121	123					2																	149528924		1870	4098	5968	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528924C>T	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1688C>T	2.37:g.149528924C>T	ENSP00000258484:p.Ala563Val						p.A563V	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1722	+			563					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1688C>T	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055286	0.55325	.	.	ENSG00000135999	ENST00000258484	T	0.17054	2.3	5.34	5.34	0.76211	.	0.178765	0.49305	D	0.000151	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.25257	-1.0137	10	0.28530	T	0.3	-3.0814	19.4043	0.94642	0.0:1.0:0.0:0.0	.	563	Q52LR7	EPC2_HUMAN	V	563	ENSP00000258484:A563V	ENSP00000258484:A563V	A	+	2	0	EPC2	149245394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.161000	0.58170	2.646000	0.89796	0.563000	0.77884	GCT		0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		87	514	0	0	0	1	0	87	514					T	149528924	C	T	149528924	3	4	79	1	0	0	0	0	1	0	0	0	5179	797	28	2	1726	2	EPC2	2	149528924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	149528924	93670449	2960	13277	84	2									
KIF5C	3800	broad.mit.edu	37	chr2	149866864	149866864	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcccattcagcccagatCggtacgtgcgtgcacagtgg	14	12	1	1	rs200547595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149866864C>T	ENST00000435030.1	+	24	3134	c.2766C>T	c.(2764-2766)atC>atT	p.I922I	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Splice_Site_p.I827I|KIF5C_ENST00000397413.1_Splice_Site_p.I690I			O60282	KIF5C_HUMAN	kinesin family member 5C	922	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGCCCAGATCGGTACGTGCG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18032	0.0		0.001	False		,,,				2504	0.0					ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e24+1		kinesin family member 5C		C		0,4270		0,0,2135	20	23	22		2477	-10.6	0.1	2		22	2,8492		0,2,4245	yes	coding-synonymous-near-splice	KIF5C	NM_004522.1		0,2,6380	TT,TC,CC		0.0235,0.0,0.0157		922/958	149866864	2,12762	2135	4247	6382	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149866864C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2767+1C>T	2.37:g.149866864C>T						KIF5C_ENST00000414838.2_Splice_Site_p.I827_splice|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Splice_Site_p.I690_splice	p.I922_splice			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	24	3134	+			922			Globular.		O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.2767_splice																																																																																					0.607	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Silent	16	38	0	0	0	1	0	16	38					T	149866864	C	T	149866864	5	4	79	1	0	0	0	0	0	0	1	0	8337	898	31	1	2782	1	KIF5C	2	149866864	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337940	149866864	93332509	2961	13278											
RND3	390	broad.mit.edu	37	chr2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcattcgatataagtagCtgctccaatctgtttggcca	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000472416.1_5'Flank|RND3_ENST00000263895.4_Missense_Mutation_p.A172T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	172					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATATAAGTAGCTGCTCCAATC	0.403																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(514-516)Gct>Act		Rho family GTPase 3							91	86	88					2																	151326722		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326722C>T		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.514G>A	2.37:g.151326722C>T	ENSP00000364886:p.Ala172Thr					RND3_ENST00000263895.4_Missense_Mutation_p.A172T|RND3_ENST00000409557.1_Missense_Mutation_p.A43T	p.A172T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	763	-			172					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.514G>A	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952131	0.73787	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	N	0.12853	0.265	0.80722	D	1	D;D;D	0.60575	0.988;0.976;0.976	D;P;P	0.73708	0.981;0.625;0.697	T	0.83249	-0.0054	10	0.66056	D	0.02	-3.7331	19.0713	0.93138	0.0:1.0:0.0:0.0	.	35;171;172	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	172;172;43	ENSP00000364886:A172T;ENSP00000263895:A172T;ENSP00000386576:A43T	ENSP00000263895:A172T	A	-	1	0	RND3	151034968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.751000	0.94390	0.650000	0.86243	GCT		0.403	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		108	300	0	0	0	1	0	108	300					T	151326722	C	T	151326722	3	4	79	1	0	0	0	0	1	0	0	0	13471	797	28	2	224	2	RND3	2	151326722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1459858	151326722	91872651	2962	13279											
RIF1	55183	broad.mit.edu	37	chr2	152298469	152298469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaagtattaggttcAccagcatatcaggttgctaa	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.5	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000428287.2_Silent_p.S566S|RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTAGGTTCACCAGCATATC	0.299																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1696-1698)tcA>tcG		RAP1 interacting factor homolog (yeast)							60	62	61					2																	152298469		2202	4286	6488	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152298469A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1698A>G	2.37:g.152298469A>G						RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Silent_p.S566S	p.S566S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	15	2181	+			566					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.1698A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033723	0.19590	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.4	1.14	0.20703	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-12.2918	6.4219	0.21748	0.5636:0.0:0.0744:0.362	.	.	.	.	A	558	.	.	T	+	1	0	RIF1	152006715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.265000	0.33027	0.361000	0.24292	0.528000	0.53228	ACC		0.299	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	236	0	0	0	1	0	6	236					G	152298469	A	G	152298469	2	3	79	1	0	0	0	0	0	0	0	1	13409	146	6	4		4	RIF1	2	152298469	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971747	152298469	90900904	2963	13280											
RIF1	55183	broad.mit.edu	37	chr2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggcatatttctttgccttCtatgatccgaaaaatatttg	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTTTGCCTTCTATGATCCGA	0.358																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2545-2547)tCt>tAt		RAP1 interacting factor homolog (yeast)							113	111	112					2																	152311610		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311610C>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2546C>A	2.37:g.152311610C>A	ENSP00000243326:p.Ser849Tyr					RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y	p.S849Y			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	3029	+			849					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2546C>A	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861107|3.861107	0.71949|0.71949	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.55|5.55	4.68|4.68	0.58851|0.58851	.|.	.|0.189056	.|0.46758	.|D	.|0.000273	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.81998|0.81998	-0.0675|-0.0675	5|10	.|0.72032	.|D	.|0.01	-5.8134|-5.8134	14.3304|14.3304	0.66553|0.66553	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|849;849	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	L|Y	840|849	.|ENSP00000390181:S849Y;ENSP00000414615:S849Y;ENSP00000415691:S849Y;ENSP00000243326:S849Y;ENSP00000416123:S849Y	.|ENSP00000243326:S849Y	F|S	+|+	3|2	2|0	RIF1|RIF1	152019856|152019856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.074000|3.074000	0.50065|0.50065	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			117	521	1	0	1.76152e-51	1	2.18623e-51	117	521					A	152311610	C	A	152311610	3	1	79	1	0	0	0	0	1	0	0	0	13409	913	32	3	2628	3	RIF1	2	152311610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13141	152311610	90887763	2964	13281											
RIF1	55183	broad.mit.edu	37	chr2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagcagatcaaatggTaaatgaggatagtcaggttc	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A|RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATCAAATGGTAAATGAGGAT	0.378																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4195-4197)gTa>gCa		RAP1 interacting factor homolog (yeast)							88	92	91					2																	152320230		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320230T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4196T>C	2.37:g.152320230T>C	ENSP00000243326:p.Val1399Ala					RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A	p.V1399A			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4679	+			1399					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4196T>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.071927	0.08436	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.31	2.89	0.33648	.	1.118960	0.06579	N	0.749939	T	0.26304	0.0642	L	0.56769	1.78	0.09310	N	1	B;B	0.26081	0.087;0.141	B;B	0.24006	0.022;0.05	T	0.33624	-0.9861	10	0.17832	T	0.49	-4.3188	2.2769	0.04104	0.1508:0.1075:0.1553:0.5865	.	1399;1399	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1399	ENSP00000390181:V1399A;ENSP00000414615:V1399A;ENSP00000415691:V1399A;ENSP00000243326:V1399A;ENSP00000416123:V1399A	ENSP00000243326:V1399A	V	+	2	0	RIF1	152028476	0.001000	0.12720	0.841000	0.33234	0.287000	0.27160	0.326000	0.19646	0.820000	0.34516	0.455000	0.32223	GTA		0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			142	408	0	0	0	1	0	142	408					C	152320230	T	C	152320230	3	2	79	1	0	0	0	0	1	0	0	0	13409	1638	57	4	4310	4	RIF1	2	152320230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8620	152320230	90879143	2965	13282											
RIF1	55183	broad.mit.edu	37	chr2	152321120	152321120	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgataattgtagtttgggaGaatcctcaaaaatagggata	10	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.5	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGTTTGGGAGAATCCTCAAA	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5086-5088)Gaa>Taa		RAP1 interacting factor homolog (yeast)							39	42	41					2																	152321120		2202	4298	6500	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321120G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5086G>T	2.37:g.152321120G>T	ENSP00000243326:p.Glu1696*					RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*	p.E1696*			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5569	+			1696					A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.5086G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372762	0.99151	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.21	5.21	0.72293	.	0.650546	0.15593	N	0.254318	.	.	.	.	.	.	0.47949	D	0.999554	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.6011	14.4579	0.67428	0.0:0.0:0.8522:0.1478	.	.	.	.	X	1696	.	ENSP00000243326:E1696X	E	+	1	0	RIF1	152029366	0.915000	0.31059	0.025000	0.17156	0.091000	0.18340	2.565000	0.45939	2.581000	0.87130	0.557000	0.71058	GAA		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			10	288	1	0	0.00829132	1	0.00834067	10	288					T	152321120	G	T	152321120	4	4	79	1	0	0	0	0	0	1	0	0	13409	943	33	3	5200	3	RIF1	2	152321120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	890	152321120	90878253	2966	13283											
RIF1	55183	broad.mit.edu	37	chr2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacactcatctgaagaaaCgaataccaaaatgaaaaata	4	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M|RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTGAAGAAACGAATACCAAA	0.398																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6040-6042)aCg>aTg		RAP1 interacting factor homolog (yeast)							61	59	60					2																	152322075		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322075C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6041C>T	2.37:g.152322075C>T	ENSP00000243326:p.Thr2014Met					RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M	p.T2014M			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6524	+			2014			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6041C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159683	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.12	1.5	0.22942	.	1.526730	0.03207	N	0.175587	T	0.03305	0.0096	N	0.01352	-0.895	0.18873	N	0.999982	B;B	0.15719	0.008;0.014	B;B	0.08055	0.001;0.003	T	0.34403	-0.9830	10	0.33940	T	0.23	0.8415	4.687	0.12762	0.0:0.1799:0.1638:0.6563	.	2014;2014	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	M	2014	ENSP00000390181:T2014M;ENSP00000414615:T2014M;ENSP00000415691:T2014M;ENSP00000243326:T2014M;ENSP00000416123:T2014M	ENSP00000243326:T2014M	T	+	2	0	RIF1	152030321	0.005000	0.15991	0.010000	0.14722	0.003000	0.03518	0.278000	0.18753	0.106000	0.17784	-0.312000	0.09012	ACG		0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			29	160	0	0	0	1	0	29	160					T	152322075	C	T	152322075	3	4	79	1	0	0	0	0	1	0	0	0	13409	536	19	1	6155	1	RIF1	2	152322075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955	152322075	90877298	2967	13284											
RIF1	55183	broad.mit.edu	37	chr2	152322115	152322115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagaaatgatgatcggCgaggcaatggctgaaactgg	14	5	0	5	rs189342229	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000428287.2_Silent_p.G2027G|RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATGATCGGCGAGGCAATGG	0.418													T|||	9	0.00179712	0.0	0.0	5008	,	,		18646	0.0079		0.001	False		,,,				2504	0.0					ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6079-6081)ggC>ggT		RAP1 interacting factor homolog (yeast)		T	,,,	0,4406		0,0,2203	76	68	71		6081,6081,6081,6081	-4.9	0	2		71	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	2027/2447,2027/2447,2027/2447,2027/2473	152322115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322115C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6081C>T	2.37:g.152322115C>T						RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G	p.G2027G			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6564	+			2027			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.6081C>T	CCDS2194.1																																																																																				0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			9	208	0	0	0	1	0	9	208					T	152322115	C	T	152322115	2	4	79	1	0	0	0	0	0	0	0	1	13409	755	27	1		1	RIF1	2	152322115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	152322115	90877258	2968	13285											
NEB	4703	broad.mit.edu	37	chr2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctggtgcttctgaatGctcagacttctcctcacccc	9	14	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000172853.10	-	147	19810	c.19663C>T	c.(19663-19665)Cat>Tat	p.H6555Y	NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y			P20929	NEBU_HUMAN	nebulin	6555	Interaction with SVIL.				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)			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)		GCTTCTGAATGCTCAGACTTC	0.577																																						ENST00000397345.3																			0				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						c.(25231-25233)Cat>Tat		nebulin							70	73	72					2																	152346952		2043	4202	6245	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.chr2:152346952G>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.19663C>T	2.37:g.152346952G>A	ENSP00000172853:p.His6555Tyr					NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000172853.10_Missense_Mutation_p.H6555Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y	p.H8411Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	180	25433	-			6555					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.25231C>T		.	.	.	.	.	.	.	.	.	.	G	5.724	0.318107	0.10845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.06768	3.4;3.45;3.45;3.26;3.4;4.01;4.19	5.4	5.4	0.78164	.	0.299172	0.36338	N	0.002656	T	0.10078	0.0247	L	0.34521	1.04	0.32086	N	0.592536	P;P;P;D;B;B	0.56521	0.608;0.586;0.459;0.976;0.09;0.002	B;B;B;P;B;B	0.45232	0.099;0.332;0.162;0.474;0.023;0.015	T	0.09618	-1.0666	10	0.20519	T	0.43	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	324;386;324;6555;2893;8411	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	Y	6555;8411;8411;2511;2893;6555;386;324	ENSP00000386259:H6555Y;ENSP00000380505:H8411Y;ENSP00000416578:H8411Y;ENSP00000410961:H2893Y;ENSP00000172853:H6555Y;ENSP00000380497:H386Y;ENSP00000427083:H324Y	ENSP00000172853:H6555Y	H	-	1	0	NEB	152055198	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.396000	0.52565	2.526000	0.85167	0.462000	0.41574	CAT		0.577	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	63	0	0	0	1	0	17	63					A	152346952	G	A	152346952	3	1	79	1	0	0	0	0	1	0	0	0	10344	1319	46	2	358	2	NEB	2	152346952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24837	152346952	90852421	2969	13286											
NEB	4703	broad.mit.edu	37	chr2	152352790	152352790	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttctcgccaagtacCgagctaatattttcttgatt	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000172853.10	-	140	19065	c.18918G>A	c.(18916-18918)tcG>tcA	p.S6306S	NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000604864.1_Splice_Site_p.S8162S|NEB_ENST00000498015.2_Intron|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Splice_Site_p.S137S|NEB_ENST00000427231.2_Splice_Site_p.S8162S			P20929	NEBU_HUMAN	nebulin	6306					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.S8162S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCCAAGTACCGAGCTAATAT	0.333																																						ENST00000397345.3																			1	Substitution - coding silent(1)	p.S8162S(1)	endometrium(1)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e173+1		nebulin							90	71	77					2																	152352790		1811	4074	5885	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152352790C>T	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.18918+1G>A	2.37:g.152352790C>T						NEB_ENST00000409198.1_Splice_Site_p.S6306_splice|RIF1_ENST00000457745.1_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Splice_Site_p.S137_splice|NEB_ENST00000603639.1_Splice_Site_p.S8162_splice|NEB_ENST00000172853.10_Splice_Site_p.S6306_splice|NEB_ENST00000604864.1_Splice_Site_p.S8162_splice|NEB_ENST00000427231.2_Splice_Site_p.S8162_splice|NEB_ENST00000509223.2_Splice_Site_p.S106_splice	p.S8162_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	173	24688	-			6470					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.24486_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339299|2.339299	0.41398|0.41398	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.74168|0.74168	0.3681|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73307|0.73307	-0.4024|-0.4024	4|4	.|.	.|.	.|.	.|.	18.2919|18.2919	0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|Q	308|296	.|.	.|.	G|R	-|-	1|2	0|0	NEB|NEB	152061036|152061036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.995000|6.995000	0.76257|0.76257	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Silent	30	95	0	0	0	1	0	30	95					T	152352790	C	T	152352790	5	4	79	1	0	0	0	0	0	0	1	0	10344	666	23	1	1131	1	NEB	2	152352790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5838	152352790	90846583	2970	13287											
NEB	4703	broad.mit.edu	37	chr2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtctcataatacgacatgGacttctcagcatcttccttg	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000172853.10	-	134	18419	c.18272C>T	c.(18271-18273)tCc>tTc	p.S6091F	NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F			P20929	NEBU_HUMAN	nebulin	6091					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)			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)		ATACGACATGGACTTCTCAGC	0.418																																						ENST00000397345.3																			0				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						c.(23374-23376)tCc>tTc		nebulin							131	112	118					2																	152364595		1848	4094	5942	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.chr2:152364595G>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.18272C>T	2.37:g.152364595G>A	ENSP00000172853:p.Ser6091Phe					NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000172853.10_Missense_Mutation_p.S6091F|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F	p.S7792F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	162	23577	-			6091					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.23375C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178357|3.178357	0.57692|0.57692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78	5.35|5.35	0.993|0.993	0.19825|0.19825	.|.	.|0.510406	.|0.20688	.|N	.|0.087515	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53462	.|0.708;0.96;0.915	.|P;P;P	.|0.54965	.|0.723;0.708;0.765	T|T	0.42292|0.42292	-0.9460|-0.9460	5|10	.|0.23302	.|T	.|0.38	.|.	13.8688|13.8688	0.63605|0.63605	0.0:0.4829:0.4177:0.0994|0.0:0.4829:0.4177:0.0994	.|.	.|6091;7792;2522	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	378|6091;7792;7792;2140;2522;6091	.|ENSP00000386259:S6091F;ENSP00000380505:S7792F;ENSP00000416578:S7792F;ENSP00000410961:S2522F;ENSP00000172853:S6091F	.|ENSP00000172853:S6091F	P|S	-|-	1|2	0|0	NEB|NEB	152072841|152072841	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.737000|1.737000	0.38197|0.38197	0.256000|0.256000	0.21614|0.21614	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	60	0	0	0	1	0	17	60					A	152364595	G	A	152364595	3	1	79	1	0	0	0	0	1	0	0	0	10344	1174	41	2	2286	2	NEB	2	152364595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11805	152364595	90834778	2971	13288											
NEB	4703	broad.mit.edu	37	chr2	152381050	152381050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactggcctgtttggctgcCtgtgtggccttcttgatgtc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152381050C>A	ENST00000172853.10	-	124	17397	c.17250G>T	c.(17248-17250)caG>caT	p.Q5750H	NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H			P20929	NEBU_HUMAN	nebulin	5750					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)			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)		GTTTGGCTGCCTGTGTGGCCT	0.512																																						ENST00000397345.3																			0				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						c.(22351-22353)caG>caT		nebulin							203	204	204					2																	152381050		2020	4203	6223	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.chr2:152381050C>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.17250G>T	2.37:g.152381050C>A	ENSP00000172853:p.Gln5750His					NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000172853.10_Missense_Mutation_p.Q5750H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H	p.Q7451H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	152	22555	-			5750					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22353G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404807|2.404807	0.42613|0.42613	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.47869|.	0.83;1.43;1.43;0.83;0.83|.	5.64|5.64	2.72|2.72	0.32119|0.32119	.|.	0.106358|.	0.64402|.	D|.	0.000003|.	T|T	0.48021|0.48021	0.1477|0.1477	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31383|.	0.006;0.018;0.321|.	B;B;B|.	0.25506|.	0.053;0.043;0.061|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.46703|.	T|.	0.11|.	.|.	3.5627|3.5627	0.07888|0.07888	0.1205:0.5605:0.1175:0.2014|0.1205:0.5605:0.1175:0.2014	.|.	5750;7451;2181|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|M	5750;7451;7451;1799;2181;5750|74	ENSP00000386259:Q5750H;ENSP00000380505:Q7451H;ENSP00000416578:Q7451H;ENSP00000410961:Q2181H;ENSP00000172853:Q5750H|.	ENSP00000172853:Q5750H|.	Q|R	-|-	3|2	2|0	NEB|NEB	152089296|152089296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.995000|0.995000	0.29706|0.29706	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	1029	1	0	2.16457e-27	1	2.50636e-27	33	1029					A	152381050	C	A	152381050	3	1	79	1	0	0	0	0	1	0	0	0	10344	680	24	3	3348	3	NEB	2	152381050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16455	152381050	90818323	2972	13289											
NEB	4703	broad.mit.edu	37	chr2	152419185	152419185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttcttccagaagagaCgtccactggtggaaatagtg	13	7	1	2	rs368876425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000172853.10	-	92	13875	c.13728G>A	c.(13726-13728)acG>acA	p.T4576T	NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000427231.2_Silent_p.T6277T			P20929	NEBU_HUMAN	nebulin	4576					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)			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)		CCAGAAGAGACGTCCACTGGT	0.483																																						ENST00000397345.3																			0				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						c.(18829-18831)acG>acA		nebulin		C	,,	1,4051		0,1,2025	127	120	122		18831,18831,13728	-11.5	0	2		122	0,8330		0,0,4165	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6190	TT,TC,CC		0.0,0.0247,0.0081	,,	6277/8526,6277/8526,4576/6670	152419185	1,12381	2026	4165	6191	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152419185C>T	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.13728G>A	2.37:g.152419185C>T						NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000172853.10_Silent_p.T4576T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000427231.2_Silent_p.T6277T	p.T6277T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	120	19033	-			6286					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18831G>A																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	71	0	0	0	1	0	13	71					T	152419185	C	T	152419185	2	4	79	1	0	0	0	0	0	0	0	1	10344	523	19	1		1	NEB	2	152419185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38135	152419185	90780188	2973	13290											
NEB	4703	broad.mit.edu	37	chr2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggatcatcttcaatgCtctgggctccaatgtggtgg	12	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000172853.10	-	77	11492	c.11345G>A	c.(11344-11346)aGc>aAc	p.S3782N	NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N			P20929	NEBU_HUMAN	nebulin	3782					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)			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)		ATCTTCAATGCTCTGGGCTCC	0.403																																						ENST00000397345.3																			0				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						c.(12073-12075)aGc>aAc		nebulin							142	132	135					2																	152466579		1907	4133	6040	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.chr2:152466579C>T	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.11345G>A	2.37:g.152466579C>T	ENSP00000172853:p.Ser3782Asn					NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000172853.10_Missense_Mutation_p.S3782N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N	p.S4025N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12276	-			4024					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12074G>A		.	.	.	.	.	.	.	.	.	.	C	15.30	2.791572	0.50102	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10099	3.05;2.98;2.91;3.06	5.36	5.36	0.76844	.	0.136350	0.64402	D	0.000004	T	0.09949	0.0244	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.12293	-1.0553	10	0.33940	T	0.23	.	13.2308	0.59943	0.0:0.9171:0.0:0.0829	.	3782	P20929	NEBU_HUMAN	N	3782;4025;4025;3782	ENSP00000386259:S3782N;ENSP00000380505:S4025N;ENSP00000416578:S4025N;ENSP00000172853:S3782N	ENSP00000172853:S3782N	S	-	2	0	NEB	152174825	0.000000	0.05858	0.420000	0.26596	0.994000	0.84299	0.961000	0.29267	2.682000	0.91365	0.650000	0.86243	AGC		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	212	0	0	0	1	0	49	212					T	152466579	C	T	152466579	3	4	79	1	0	0	0	0	1	0	0	0	10344	797	28	2	14020	2	NEB	2	152466579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47394	152466579	90732794	2974	13291											
NEB	4703	broad.mit.edu	37	chr2	152468847	152468847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctcgacctctacagaGccaatgggaacccatcctat	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000172853.10	-	74	11076	c.10929C>T	c.(10927-10929)ggC>ggT	p.G3643G	NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000397345.3_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000427231.2_Silent_p.G3886G			P20929	NEBU_HUMAN	nebulin	3643					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)			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)		CCTCTACAGAGCCAATGGGAA	0.438																																						ENST00000397345.3																			0				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						c.(11656-11658)ggC>ggT		nebulin							72	68	69					2																	152468847		1906	4140	6046	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152468847G>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.10929C>T	2.37:g.152468847G>A						NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000172853.10_Silent_p.G3643G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000427231.2_Silent_p.G3886G	p.G3886G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	78	11860	-			3886					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.11658C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	221	0	0	0	1	0	16	221					A	152468847	G	A	152468847	2	1	79	1	0	0	0	0	0	0	0	1	10344	958	34	2		2	NEB	2	152468847	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	152468847	90730526	2975	13292											
NEB	4703	broad.mit.edu	37	chr2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcatcttcgggtcatcCttaatgttccgggccccaat	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000172853.10	-	73	10770	c.10623G>T	c.(10621-10623)aaG>aaT	p.K3541N	NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N			P20929	NEBU_HUMAN	nebulin	3541					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)			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)		TCGGGTCATCCTTAATGTTCC	0.458																																						ENST00000397345.3																			0				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						c.(11350-11352)aaG>aaT		nebulin							172	163	166					2																	152471039		1932	4133	6065	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.chr2:152471039C>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.10623G>T	2.37:g.152471039C>A	ENSP00000172853:p.Lys3541Asn					NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000172853.10_Missense_Mutation_p.K3541N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N	p.K3784N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	77	11554	-			3784					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11352G>T		.	.	.	.	.	.	.	.	.	.	C	9.261	1.043255	0.19748	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.41;3.4;3.38;3.41	5.78	-0.992	0.10232	.	0.799704	0.11944	N	0.514403	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	P	0.36412	0.552	B	0.28991	0.097	T	0.55296	-0.8163	10	0.18710	T	0.47	.	3.4418	0.07466	0.1104:0.5012:0.2146:0.1737	.	3541	P20929	NEBU_HUMAN	N	3541;3784;3784;3541	ENSP00000386259:K3541N;ENSP00000380505:K3784N;ENSP00000416578:K3784N;ENSP00000172853:K3541N	ENSP00000172853:K3541N	K	-	3	2	NEB	152179285	0.769000	0.28531	0.506000	0.27664	0.068000	0.16541	0.024000	0.13555	-0.084000	0.12595	0.655000	0.94253	AAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		297	767	1	0	6.59406e-113	1	8.48892e-113	297	767					A	152471039	C	A	152471039	3	1	79	1	0	0	0	0	1	0	0	0	10344	680	24	3	14758	3	NEB	2	152471039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192	152471039	90728334	2976	13293											
NEB	4703	broad.mit.edu	37	chr2	152506868	152506868	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcctatgcctctcagcCactcaaggtcagatttatat	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152506868C>T	ENST00000172853.10	-	54	7400	c.7253G>A	c.(7252-7254)tGg>tAg	p.W2418*	NEB_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W2418*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2418*			P20929	NEBU_HUMAN	nebulin	2418					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)			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)		GCCTCTCAGCCACTCAAGGTC	0.443																																						ENST00000397345.3																			0				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						c.(7252-7254)tGg>tAg		nebulin							79	75	77					2																	152506868		1867	4105	5972	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.chr2:152506868C>T	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.7253G>A	2.37:g.152506868C>T	ENSP00000172853:p.Trp2418*					NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2418*	p.W2418*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	54	7455	-			2418					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.7253G>A		.	.	.	.	.	.	.	.	.	.	C	47	13.448563	0.99742	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.37	5.37	0.77165	.	0.204094	0.43919	D	0.000503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0099	0.64490	0.1512:0.8488:0.0:0.0	.	.	.	.	X	2418	.	ENSP00000172853:W2418X	W	-	2	0	NEB	152215114	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	0.964000	0.29306	2.527000	0.85204	0.650000	0.86243	TGG		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		53	301	0	0	0	1	0	53	301					T	152506868	C	T	152506868	4	4	79	1	0	0	0	0	0	1	0	0	10344	595	21	2	18949	2	NEB	2	152506868	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35829	152506868	90692505	2977	13294											
NEB	4703	broad.mit.edu	37	chr2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttacatcactctgtatgCgattcatattcctggtcagc	7	12	4	0	rs373778424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000172853.10	-	49	6629	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H			P20929	NEBU_HUMAN	nebulin	2161					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)			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)		ACTCTGTATGCGATTCATATT	0.453																																						ENST00000397345.3																			0				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						c.(6481-6483)cGc>cAc		nebulin		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4107		0,1,2053	370	360	364		6482,6482,6482	-7.7	0.6	2		364	0,8404		0,0,4202	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6255	TT,TC,CC		0.0,0.0243,0.0080	benign,benign,benign	2161/8526,2161/8526,2161/6670	152512680	1,12511	2054	4202	6256	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.chr2:152512680C>T	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.6482G>A	2.37:g.152512680C>T	ENSP00000172853:p.Arg2161His					NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000172853.10_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H	p.R2161H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6684	-			2161					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6482G>A		.	.	.	.	.	.	.	.	.	.	C	12.08	1.830523	0.32329	2.43E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	-7.68	0.01268	.	0.892392	0.10007	N	0.727734	T	0.21550	0.0519	L	0.29908	0.895	0.38568	D	0.94988	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.40728	T	0.16	.	18.2037	0.89847	0.0:0.597:0.0:0.403	.	2161	P20929	NEBU_HUMAN	H	2161	ENSP00000386259:R2161H;ENSP00000380505:R2161H;ENSP00000416578:R2161H;ENSP00000172853:R2161H	ENSP00000172853:R2161H	R	-	2	0	NEB	152220926	0.000000	0.05858	0.578000	0.28575	0.954000	0.61252	-1.351000	0.02622	-1.394000	0.02077	-0.253000	0.11424	CGC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		251	1379	0	0	0	1	0	251	1379					T	152512680	C	T	152512680	3	4	79	1	0	0	0	0	1	0	0	0	10344	768	27	1	19740	1	NEB	2	152512680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	152512680	90686693	2978	13295											
NEB	4703	broad.mit.edu	37	chr2	152518831	152518831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaatgcccttcatgaagtCagcatagtcagccttgtact	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152518831C>T	ENST00000172853.10	-	46	5935	c.5788G>A	c.(5788-5790)Gac>Aac	p.D1930N	NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N			P20929	NEBU_HUMAN	nebulin	1930					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)			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)		TTCATGAAGTCAGCATAGTCA	0.418																																						ENST00000397345.3																			0				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						c.(5788-5790)Gac>Aac		nebulin							100	95	96					2																	152518831		1853	4096	5949	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.chr2:152518831C>T	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.5788G>A	2.37:g.152518831C>T	ENSP00000172853:p.Asp1930Asn					NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000172853.10_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N	p.D1930N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	46	5990	-			1930					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5788G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.112924	0.77210	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05925	3.37;3.4;3.4;3.41	5.75	5.75	0.90469	.	0.267158	0.43919	D	0.000508	T	0.03783	0.0107	N	0.01705	-0.755	0.80722	D	1	B	0.21071	0.051	B	0.28305	0.088	T	0.55166	-0.8183	10	0.13108	T	0.6	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1930	P20929	NEBU_HUMAN	N	1930	ENSP00000386259:D1930N;ENSP00000380505:D1930N;ENSP00000416578:D1930N;ENSP00000172853:D1930N	ENSP00000172853:D1930N	D	-	1	0	NEB	152227077	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.057000	0.41365	2.866000	0.98385	0.650000	0.86243	GAC		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		15	428	0	0	0	1	0	15	428					T	152518831	C	T	152518831	3	4	79	1	0	0	0	0	1	0	0	0	10344	826	29	2	20446	2	NEB	2	152518831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	152518831	90680542	2979	13296											
NEB	4703	broad.mit.edu	37	chr2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagccaatgtgtttcccTttggcttgttcataggcttt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000172853.10	-	45	5631	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N			P20929	NEBU_HUMAN	nebulin	1828					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)			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)		TGTGTTTCCCTTTGGCTTGTT	0.448																																						ENST00000397345.3																			0				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						c.(5482-5484)aaA>aaC		nebulin							77	76	76					2																	152520341		1894	4126	6020	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.chr2:152520341T>G	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.5484A>C	2.37:g.152520341T>G	ENSP00000172853:p.Lys1828Asn					NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000172853.10_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N	p.K1828N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5686	-			1828					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5484A>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.985387	0.74474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	4.39	0.52855	.	0.104362	0.64402	D	0.000003	T	0.74711	0.3752	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	T	0.76055	-0.3099	10	0.49607	T	0.09	.	11.1655	0.48541	0.0:0.0721:0.0:0.9279	.	1828	P20929	NEBU_HUMAN	N	1828	ENSP00000386259:K1828N;ENSP00000380505:K1828N;ENSP00000416578:K1828N;ENSP00000172853:K1828N	ENSP00000172853:K1828N	K	-	3	2	NEB	152228587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	2.237000	0.73441	0.528000	0.53228	AAA		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		57	258	0	0	0	1	0	57	258					G	152520341	T	G	152520341	3	3	79	1	0	0	0	0	1	0	0	0	10344	1606	56	4	20754	4	NEB	2	152520341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1510	152520341	90679032	2980	13297											
NEB	4703	broad.mit.edu	37	chr2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacttagctgctttgtgTtatgctgagccaacaccatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000172853.10	-	38	4634	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S			P20929	NEBU_HUMAN	nebulin	1496					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)			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)		CTGCTTTGTGTTATGCTGAGC	0.468																																						ENST00000397345.3																			0				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						c.(4486-4488)aAc>aGc		nebulin							146	141	143					2																	152527556		2105	4219	6324	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.chr2:152527556T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4487A>G	2.37:g.152527556T>C	ENSP00000172853:p.Asn1496Ser					NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000172853.10_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S	p.N1496S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	38	4689	-			1496					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4487A>G		.	.	.	.	.	.	.	.	.	.	T	21.4	4.149237	0.78001	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.52;3.51;3.53;3.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06625	-1.0816	10	0.06099	T	0.92	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	1496	P20929	NEBU_HUMAN	S	1496	ENSP00000386259:N1496S;ENSP00000380505:N1496S;ENSP00000416578:N1496S;ENSP00000172853:N1496S	ENSP00000172853:N1496S	N	-	2	0	NEB	152235802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.068000	0.57534	2.174000	0.68829	0.533000	0.62120	AAC		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		65	182	0	0	0	1	0	65	182					C	152527556	T	C	152527556	3	2	79	1	0	0	0	0	1	0	0	0	10344	1725	60	4	21779	4	NEB	2	152527556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7215	152527556	90671817	2981	13298											
NEB	4703	broad.mit.edu	37	chr2	152528985	152528985	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtagttgacattggtagcGacatcctgggccatctttgc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000172853.10	-	37	4344	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V			P20929	NEBU_HUMAN	nebulin	1399					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)			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)		CATTGGTAGCGACATCCTGGG	0.458																																						ENST00000397345.3																			0				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						c.(4195-4197)gtC>gtT		nebulin							187	178	181					2																	152528985		2070	4220	6290	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152528985G>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.4197C>T	2.37:g.152528985G>A						NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000172853.10_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V	p.V1399V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4399	-			1399					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.4197C>T																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		93	287	0	0	0	1	0	93	287					A	152528985	G	A	152528985	2	1	79	1	0	0	0	0	0	0	0	1	10344	1045	37	1		1	NEB	2	152528985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1429	152528985	90670388	2982	13299											
NEB	4703	broad.mit.edu	37	chr2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagggtgtctggatgttggcGatattttttctgtttggcaa	14	4	2	0	rs371287755		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000172853.10	-	30	3100	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C			P20929	NEBU_HUMAN	nebulin	985					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)			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)		GGATGTTGGCGATATTTTTTC	0.353																																						ENST00000397345.3																			0				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						c.(2953-2955)Cgc>Tgc		nebulin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,3746		0,0,1873	197	186	190		2953,2953,2953	5.7	1	2		190	1,8205		0,1,4102	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	180,180,180	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	985/8526,985/8526,985/6670	152537333	1,11951	1873	4103	5976	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.chr2:152537333G>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.2953C>T	2.37:g.152537333G>A	ENSP00000172853:p.Arg985Cys					NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000172853.10_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C	p.R985C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	30	3155	-			985					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2953C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.840704	0.91197	0.0	1.22E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.13307	2.61;2.69;2.68;2.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58312	-0.7658	10	0.87932	D	0	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	985	P20929	NEBU_HUMAN	C	985	ENSP00000386259:R985C;ENSP00000380505:R985C;ENSP00000416578:R985C;ENSP00000172853:R985C	ENSP00000172853:R985C	R	-	1	0	NEB	152245579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.188000	0.58351	2.684000	0.91462	0.650000	0.86243	CGC		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		167	547	0	0	0	1	0	167	547					A	152537333	G	A	152537333	3	1	79	1	0	0	0	0	1	0	0	0	10344	1058	37	1	23345	1	NEB	2	152537333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8348	152537333	90662040	2983	13300											
NEB	4703	broad.mit.edu	37	chr2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgcattttctgactgTgtgcaatgtagggggtcatg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000172853.10	-	5	410	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R			P20929	NEBU_HUMAN	nebulin	88					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)			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)		TTTCTGACTGTGTGCAATGTA	0.453																																						ENST00000397345.3																			0				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						c.(262-264)cAc>cGc		nebulin							77	75	76					2																	152584236		1902	4128	6030	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.chr2:152584236T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.263A>G	2.37:g.152584236T>C	ENSP00000172853:p.His88Arg					NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000172853.10_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R	p.H88R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	5	465	-			88					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.263A>G		.	.	.	.	.	.	.	.	.	.	T	22.7	4.329017	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.13272	0.32	0.80722	D	1	B	0.33841	0.428	P	0.44921	0.464	T	0.18555	-1.0333	10	0.06365	T	0.9	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	88	P20929	NEBU_HUMAN	R	88	ENSP00000386259:H88R;ENSP00000380505:H88R;ENSP00000416578:H88R;ENSP00000172853:H88R	ENSP00000172853:H88R	H	-	2	0	NEB	152292482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.010000	0.76353	2.308000	0.77769	0.533000	0.62120	CAC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		39	221	0	0	0	1	0	39	221					C	152584236	T	C	152584236	3	2	79	1	0	0	0	0	1	0	0	0	10344	1696	59	4	26135	4	NEB	2	152584236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46903	152584236	90615137	2984	13301											
STAM2	10254	broad.mit.edu	37	chr2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattagttgttacaaaaTtggatgggaaaagtcctatt	8	3	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	254	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			N -> D (in Ref. 2; CAB63735). {ECO:0000305}.	endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(760-762)aAt>aCt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							107	114	112					2																	152992061		2203	4299	6502	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152992061T>G	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.761A>C	2.37:g.152992061T>G	ENSP00000263904:p.Asn254Thr						p.N254T	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	8	1110	-			254	N -> D (in Ref. 2; CAB63735).		SH3.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.761A>C	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063769	0.76187	.	.	ENSG00000115145	ENST00000263904	T	0.37411	1.2	5.55	4.36	0.52297	Src homology-3 domain (4);	0.041476	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50919	1.6	0.80722	D	1	D;D	0.60575	0.982;0.988	P;P	0.61070	0.883;0.858	T	0.40997	-0.9533	10	0.48119	T	0.1	-18.2276	11.6591	0.51337	0.0:0.0704:0.0:0.9296	.	254;254	O75886-2;O75886	.;STAM2_HUMAN	T	254	ENSP00000263904:N254T	ENSP00000263904:N254T	N	-	2	0	STAM2	152700307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	0.897000	0.36392	0.460000	0.39030	AAT		0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		120	324	0	0	0	1	0	120	324					G	152992061	T	G	152992061	3	3	79	1	0	0	0	0	1	0	0	0	15301	1493	52	4	844	4	STAM2	2	152992061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	407825	152992061	90207312	2985	13302											
FMNL2	114793	broad.mit.edu	37	chr2	153476145	153476145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgagactgtaccaGctcctcccttagcacctccc	7	18	0	1	rs565900021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153476145G>A	ENST00000288670.9	+	15	2117	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	584	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GACTGTACCAGCTCCTCCCTT	0.642																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1750-1752)Gct>Act		formin-like 2							32	32	32					2																	153476145		1925	4126	6051	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153476145G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1750G>A	2.37:g.153476145G>A	ENSP00000288670:p.Ala584Thr					FMNL2_ENST00000475377.2_5'UTR	p.A584T	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			15	2117	+			584			Pro-rich.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1750G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934621	0.18206	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.17054	2.3	5.37	4.48	0.54585	Actin-binding FH2 (1);	0.314095	0.30177	N	0.010231	T	0.08088	0.0202	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.26573	-1.0099	10	0.23891	T	0.37	.	9.0604	0.36431	0.0979:0.0:0.9021:0.0	.	584;65;584	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	T	584;65	ENSP00000288670:A584T	ENSP00000288670:A584T	A	+	1	0	FMNL2	153184391	0.999000	0.42202	0.999000	0.59377	0.271000	0.26615	2.815000	0.48018	2.516000	0.84829	0.549000	0.68633	GCT		0.642	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		4	99	0	0	0	1	0	4	99					A	153476145	G	A	153476145	3	1	79	1	0	0	0	0	1	0	0	0	5977	971	34	2	1808	2	FMNL2	2	153476145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484084	153476145	89723228	2986	13303											
FMNL2	114793	broad.mit.edu	37	chr2	153484903	153484903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagtgcttcggctctaCgagcgggaaaggaagcctct	14	9	2	1	rs200459731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000475377.2	+	5	581	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FMNL2_ENST00000288670.9_Silent_p.Y752Y			Q96PY5	FMNL2_HUMAN	formin-like 2	752	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19631	0.0		0.0	False		,,,				2504	0.0					ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2254-2256)taC>taT		formin-like 2		C		0,3804		0,0,1902	124	123	123		2256	-6.8	0.6	2		123	1,8253		0,1,4126	no	coding-synonymous	FMNL2	NM_052905.3		0,1,6028	TT,TC,CC		0.0121,0.0,0.0083		752/1093	153484903	1,12057	1902	4127	6029	SO:0001819	synonymous_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153484903C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.381C>T	2.37:g.153484903C>T						FMNL2_ENST00000475377.2_Silent_p.Y127Y	p.Y752Y	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			18	2623	+			752			FH2.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000475377.2	37	c.2256C>T																																																																																					0.458	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		79	428	0	0	0	1	0	79	428					T	153484903	C	T	153484903	2	4	79	1	0	0	0	0	0	0	0	1	5977	547	19	1		1	FMNL2	2	153484903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8758	153484903	89714470	2987	13304											
GALNT13	114805	broad.mit.edu	37	chr2	154996996	154996996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgattgcccttaatagaagtCtgccagatgtaagattagaa	9	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAATAGAAGTCTGCCAGATGT	0.333																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(289-291)Ctg>Ttg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							93	94	93					2																	154996996		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154996996C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.289C>T	2.37:g.154996996C>T						GALNT13_ENST00000409237.1_Silent_p.L97L	p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			4	856	+			97					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.289C>T	CCDS2199.1																																																																																				0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		45	274	0	0	0	1	0	45	274					T	154996996	C	T	154996996	2	4	79	1	0	0	0	0	0	0	0	1	6239	912	32	2		2	GALNT13	2	154996996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512093	154996996	88202377	2988	13305											
GALNT13	114805	broad.mit.edu	37	chr2	155102495	155102495	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaacattacctgtcaGgtatgtagatcatatctctt	7	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	286	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTACCTGTCAGGTATGTAGAT	0.343																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.e7+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							52	50	51					2																	155102495		2203	4300	6503	SO:0001630	splice_region_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102495G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.857+1G>A	2.37:g.155102495G>A						GALNT13_ENST00000409237.1_Splice_Site_p.R286_splice	p.R286_splice	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			7	1424	+			286			Catalytic subdomain B.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Splice_Site	SNP	ENST00000392825.3	37	c.857_splice	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788402	0.49997	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.13	4.24	0.50183	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.54615	0.1869	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.15719	0.001;0.01;0.014;0.01	B;B;B;B	0.24006	0.006;0.034;0.05;0.034	T	0.51132	-0.8744	10	0.25106	T	0.35	.	15.0273	0.71680	0.0:0.1431:0.8569:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	286	ENSP00000376570:R286K;ENSP00000387239:R286K	ENSP00000376570:R286K	R	+	2	0	GALNT13	154810741	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.373000	0.73128	1.298000	0.44778	-0.292000	0.09595	AGG		0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	Missense_Mutation	45	171	0	0	0	1	0	45	171					A	155102495	G	A	155102495	5	1	79	1	0	0	0	0	0	0	1	0	6239	1014	35	2	875	2	GALNT13	2	155102495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105499	155102495	88096878	2989	13306											
NR4A2	4929	broad.mit.edu	37	chr2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcggttcaaccccccaTtgttgaaagtcacgtggtct	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	543					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1627-1629)aAt>aGt		nuclear receptor subfamily 4, group A, member 2							112	114	114					2																	157182425		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182425T>C	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1628A>G	2.37:g.157182425T>C	ENSP00000344479:p.Asn543Ser					NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S	p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			8	1990	-			543					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1628A>G	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	T	0.699	-0.791458	0.02884	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.144766	0.64402	D	0.000006	T	0.19406	0.0466	N	0.00583	-1.355	0.45108	D	0.998122	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.21014	T	0.42	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	543	P43354	NR4A2_HUMAN	S	543;480;543;554	ENSP00000344479:N543S;ENSP00000389986:N480S;ENSP00000386747:N543S;ENSP00000444925:N554S	ENSP00000344479:N543S	N	-	2	0	NR4A2	156890671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.324000	0.78689	0.533000	0.62120	AAT		0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			101	274	0	0	0	1	0	101	274					C	157182425	T	C	157182425	3	2	79	1	0	0	0	0	1	0	0	0	10675	1493	52	4	172	4	NR4A2	2	157182425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2079930	157182425	86016948	2990	13307											
NR4A2	4929	broad.mit.edu	37	chr2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcccaacagccaggcacttCtgaaatcggcagtactgaca	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	321					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(961-963)caG>caT		nuclear receptor subfamily 4, group A, member 2							112	102	105					2																	157184947		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157184947C>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.963G>T	2.37:g.157184947C>A	ENSP00000344479:p.Gln321His					NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H	p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			4	1325	-			321					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.963G>T	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002799|3.002799	0.54254|0.54254	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000406048|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	.|D;D;D;D;D;D	.|0.97430	.|-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	6.07|6.07	4.3|4.3	0.51218|0.51218	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.053540	.|0.85682	.|D	.|0.000000	.|D	.|0.98102	.|0.9374	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.98019	.|1.0370	.|10	.|0.87932	.|D	.|0	.|.	9.36|9.36	0.38190|0.38190	0.1191:0.7675:0.0:0.1134|0.1191:0.7675:0.0:0.1134	.|.	.|321	.|P43354	.|NR4A2_HUMAN	X|H	103|321;258;321;332;321;258	.|ENSP00000344479:Q321H;ENSP00000389986:Q258H;ENSP00000386747:Q321H;ENSP00000444925:Q332H;ENSP00000386993:Q321H;ENSP00000410952:Q258H	.|ENSP00000344479:Q321H	E|Q	-|-	1|3	0|2	NR4A2|NR4A2	156893193|156893193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.201000|2.201000	0.42734|0.42734	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.512	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			80	395	1	0	4.8811e-34	1	5.79764e-34	80	395					A	157184947	C	A	157184947	3	1	79	1	0	0	0	0	1	0	0	0	10675	912	32	3	853	3	NR4A2	2	157184947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2522	157184947	86014426	2991	13308											
NR4A2	4929	broad.mit.edu	37	chr2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcaaggtggcttgacgtCgtagcctgtgctgtagttgt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	72					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(214-216)Gac>Aac		nuclear receptor subfamily 4, group A, member 2							164	144	151					2																	157186485		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186485C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.214G>A	2.37:g.157186485C>T	ENSP00000344479:p.Asp72Asn					NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N	p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	576	-			72					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.214G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257573|4.257573	0.80246|0.80246	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709|ENST00000406048	D;D;D;D;D;D;D;D|.	0.93076|.	-2.93;-2.96;-2.93;-2.94;-3.16;-3.11;-1.58;-2.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65140|.	0.932|.	T|T	0.67248|0.67248	-0.5718|-0.5718	9|5	0.46703|.	T|.	0.11|.	.|.	19.4006|19.4006	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72|.	P43354|.	NR4A2_HUMAN|.	N|Q	72;9;72;83;72;9;72;9|50	ENSP00000344479:D72N;ENSP00000389986:D9N;ENSP00000386747:D72N;ENSP00000444925:D83N;ENSP00000386993:D72N;ENSP00000410952:D9N;ENSP00000406808:D72N;ENSP00000388120:D9N|.	ENSP00000344479:D72N|.	D|R	-|-	1|2	0|0	NR4A2|NR4A2	156894731|156894731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAC|CGA		0.498	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			14	518	0	0	0	1	0	14	518					T	157186485	C	T	157186485	3	4	79	1	0	0	0	0	1	0	0	0	10675	884	31	1	1606	1	NR4A2	2	157186485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538	157186485	86012888	2992	13309											
GALNT5	11227	broad.mit.edu	37	chr2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacacaaagccaatacgaGtcttccttttcctaagttca	4	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	275				NTS -> AEG (in Ref. 5). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCAATACGAGTCTTCCTTTT	0.423																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(823-825)aGt>aAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							75	74	74					2																	158115418		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115418G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.824G>A	2.37:g.158115418G>A	ENSP00000259056:p.Ser275Asn						p.S275N	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	1309	+			275	NTS -> AEG (in Ref. 2).				A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.824G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666637	0.00765	.	.	ENSG00000136542	ENST00000259056	T	0.55413	0.52	5.66	-3.12	0.05282	.	9.801460	0.00166	N	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.10111	T	0.7	.	6.1131	0.20112	0.529:0.2649:0.2061:0.0	.	275	Q7Z7M9	GALT5_HUMAN	N	275	ENSP00000259056:S275N	ENSP00000259056:S275N	S	+	2	0	GALNT5	157823664	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.862000	0.04263	-0.403000	0.07622	0.655000	0.94253	AGT		0.423	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		38	470	0	0	0	1	0	38	470					A	158115418	G	A	158115418	3	1	79	1	0	0	0	0	1	0	0	0	6244	1029	36	2	826	2	GALNT5	2	158115418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	928933	158115418	85083955	2993	13310											
GALNT5	11227	broad.mit.edu	37	chr2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctagaggggctcatgGgaagaaactcaatttctctg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	312					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCTCATGGGAAGAAACTC	0.403																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(934-936)gGg>gAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							65	70	68					2																	158115529		2203	4299	6502	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115529G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.935G>A	2.37:g.158115529G>A	ENSP00000259056:p.Gly312Glu						p.G312E	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	1420	+			312					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.935G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554576	0.27739	.	.	ENSG00000136542	ENST00000259056	T	0.56611	0.45	5.66	2.83	0.33086	.	3.644830	0.00687	N	0.000710	T	0.37183	0.0994	N	0.24115	0.695	0.26770	N	0.969815	B	0.25719	0.132	B	0.17098	0.017	T	0.28038	-1.0056	10	0.38643	T	0.18	.	1.5072	0.02489	0.1653:0.1536:0.4248:0.2563	.	312	Q7Z7M9	GALT5_HUMAN	E	312	ENSP00000259056:G312E	ENSP00000259056:G312E	G	+	2	0	GALNT5	157823775	0.996000	0.38824	0.499000	0.27577	0.667000	0.39255	0.943000	0.29030	0.834000	0.34852	0.655000	0.94253	GGG		0.403	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		37	497	0	0	0	1	0	37	497					A	158115529	G	A	158115529	3	1	79	1	0	0	0	0	1	0	0	0	6244	1232	43	2	937	2	GALNT5	2	158115529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	158115529	85083844	2994	13311											
ACVR1C	130399	broad.mit.edu	37	chr2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgaatcatgcttcacaGccaaccctaagtccgctatg	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTTCACAGCCAACCCTAA	0.408																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1033-1035)gCt>gTt		activin A receptor, type IC							237	215	223					2																	158399284		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158399284G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1034C>T	2.37:g.158399284G>A	ENSP00000243349:p.Ala345Val					ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V	p.A345V	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			6	1394	-			345			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1034C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000088	D	0.91023	0.7176	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.92740	0.6207	10	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	188;265;345	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	345;295;188;265	ENSP00000243349:A345V;ENSP00000387168:A295V;ENSP00000335139:A188V;ENSP00000335178:A265V	ENSP00000243349:A345V	A	-	2	0	ACVR1C	158107530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCT		0.408	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		124	507	0	0	0	1	0	124	507					A	158399284	G	A	158399284	3	1	79	1	0	0	0	0	1	0	0	0	222	971	34	2	463	2	ACVR1C	2	158399284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283755	158399284	84800089	2995	13312											
UPP2	151531	broad.mit.edu	37	chr2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgacaggaatacatatgTtgggtgagtaattttgattt	10	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000005756.4	+	1	253	c.59T>C	c.(58-60)gTt>gCt	p.V20A	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.V77A|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	20					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AATACATATGTTGGGTGAGTA	0.353																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(229-231)gTt>gCt		uridine phosphorylase 2							135	145	142					2																	158958634		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158958634T>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.59T>C	2.37:g.158958634T>C	ENSP00000005756:p.Val20Ala					UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A|UPP2_ENST00000005756.4_Missense_Mutation_p.V20A	p.V77A			O95045	UPP2_HUMAN			4	276	+			20					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.230T>C	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.917797	0.00503	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.30714	1.52;1.6	5.67	1.66	0.24008	.	0.799265	0.11506	N	0.557199	T	0.16557	0.0398	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.08179	T	0.78	.	5.5721	0.17202	0.1839:0.0:0.2736:0.5425	.	20	O95045	UPP2_HUMAN	A	77;20	ENSP00000387230:V77A;ENSP00000005756:V20A	ENSP00000005756:V20A	V	+	2	0	UPP2	158666880	0.344000	0.24827	0.004000	0.12327	0.089000	0.18198	0.340000	0.19892	0.036000	0.15547	0.533000	0.62120	GTT		0.353	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		107	535	0	0	0	1	0	107	535					C	158958634	T	C	158958634	3	2	79	1	0	0	0	0	1	0	0	0	17067	1725	60	4	240	4	UPP2	2	158958634	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	559350	158958634	84240739	2996	13313											
PKP4	8502	broad.mit.edu	37	chr2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagagaacaaaatagaCggctacaggtgaatttgcaa	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389759.3	+	21	3434	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	PKP4_ENST00000389757.3_Missense_Mutation_p.R1065W|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1108					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)				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						ACAAAATAGACGGCTACAGGT	0.403										HNSCC(62;0.18)																												ENST00000389757.3																			0				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						c.(3193-3195)Cgg>Tgg		plakophilin 4							45	45	45					2																	159535158		2203	4297	6500	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159535158C>T	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.3322C>T	2.37:g.159535158C>T	ENSP00000374409:p.Arg1108Trp	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R1108W	p.R1065W	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			20	3318	+			1108					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3193C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502554	0.64298	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75821	-0.97;-0.93	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.61489	0.2351	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46706	0.722;0.617;0.883	B;B;B	0.31101	0.08;0.124;0.117	T	0.69749	-0.5061	10	0.87932	D	0	-14.9775	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	W	1065;1108	ENSP00000374407:R1065W;ENSP00000374409:R1108W	ENSP00000374407:R1065W	R	+	1	2	PKP4	159243404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.769000	0.95229	0.655000	0.94253	CGG		0.403	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			117	351	0	0	0	1	0	117	351					T	159535158	C	T	159535158	3	4	79	1	0	0	0	0	1	0	0	0	12029	527	19	1	3400	1	PKP4	2	159535158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	576524	159535158	83664215	2997	13314											
PKP4	8502	broad.mit.edu	37	chr2	159537009	159537009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatacagattgtatttGcagtctcctcatagctatga	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389759.3	+	22	3511	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	PKP4_ENST00000389757.3_Silent_p.L1090L|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1133					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)				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						GATTGTATTTGCAGTCTCCTC	0.363										HNSCC(62;0.18)																												ENST00000389757.3																			0				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						c.(3268-3270)ttG>ttA		plakophilin 4							112	105	107					2																	159537009		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159537009G>A	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.3399G>A	2.37:g.159537009G>A		HNSCC(62;0.18)				AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.L1133L	p.L1090L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			21	3395	+			1133					Q86W91	Silent	SNP	ENST00000389759.3	37	c.3270G>A	CCDS33305.1																																																																																				0.363	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			146	424	0	0	0	1	0	146	424					A	159537009	G	A	159537009	2	1	79	1	0	0	0	0	0	0	0	1	12029	1310	46	2		2	PKP4	2	159537009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1851	159537009	83662364	2998	13315											
TANC1	85461	broad.mit.edu	37	chr2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggctccagtttggaatgGaataaagatggaaacctaag	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	246					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTTTGGAATGGAATAAAGATG	0.488																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(736-738)tgG>tgA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							61	63	62					2																	160019849		1890	4103	5993	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160019849G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.738G>A	2.37:g.160019849G>A	ENSP00000263635:p.Trp246*					TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	p.W246*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			8	975	+			246					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.738G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	39	7.336726	0.98221	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	140;246	.	ENSP00000263635:W246X	W	+	3	0	TANC1	159728095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.616000	0.98359	1.577000	0.49804	0.563000	0.77884	TGG		0.488	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			113	314	0	0	0	1	0	113	314					A	160019849	G	A	160019849	4	1	79	1	0	0	0	0	0	1	0	0	15596	1183	41	2	760	2	TANC1	2	160019849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482840	160019849	83179524	2999	13316											
TANC1	85461	broad.mit.edu	37	chr2	160020017	160020017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcccttattctcagggCtccagctcactaataatgcc	6	15	2	0	rs370313221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	302					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATTCTCAGGGCTCCAGCTCAC	0.562																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(904-906)ggC>ggA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							56	63	61					2																	160020017		2014	4178	6192	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160020017C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.906C>A	2.37:g.160020017C>A						TANC1_ENST00000454300.1_Silent_p.G196G	p.G302G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			8	1143	+			302					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.906C>A	CCDS42766.1																																																																																				0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			53	228	1	0	6.14515e-18	1	6.80267e-18	53	228					A	160020017	C	A	160020017	2	1	79	1	0	0	0	0	0	0	0	1	15596	784	28	3		3	TANC1	2	160020017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	160020017	83179356	3000	13317											
TANC1	85461	broad.mit.edu	37	chr2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtttgtgcacagcatcGcagctttgctctgccggtcc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	526					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCACAGCATCGCAGCTTTGCT	0.582																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1576-1578)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							212	212	212					2																	160031536		2113	4222	6335	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031536G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1576G>A	2.37:g.160031536G>A	ENSP00000263635:p.Ala526Thr					TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	p.A526T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			12	1813	+			526					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1576G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678943	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.76968	-1.02;-1.06	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.80616	2.505	0.80722	D	1	P;P;D	0.89917	0.868;0.919;1.0	B;B;D	0.78314	0.132;0.369;0.991	D	0.89947	0.4077	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.8621:0.1379	.	518;420;526	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	420;526	ENSP00000396339:A420T;ENSP00000263635:A526T	ENSP00000263635:A526T	A	+	1	0	TANC1	159739782	1.000000	0.71417	0.329000	0.25429	0.901000	0.52897	7.690000	0.84178	1.325000	0.45301	0.655000	0.94253	GCA		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			395	1141	0	0	0	1	0	395	1141					A	160031536	G	A	160031536	3	1	79	1	0	0	0	0	1	0	0	0	15596	1087	38	1	1614	1	TANC1	2	160031536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11519	160031536	83167837	3001	13318											
TANC1	85461	broad.mit.edu	37	chr2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggaatttcttcaagccatCtccaagccctgtggatcggc	10	13	3	0	rs367631474		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	886					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAAGCCATCTCCAAGCCCT	0.537																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2656-2658)Ctc>Atc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							72	71	71					2																	160043449		1924	4115	6039	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160043449C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2656C>A	2.37:g.160043449C>A	ENSP00000263635:p.Leu886Ile					TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	p.L886I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			16	2893	+			886					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2656C>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218434	0.95104	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75367	-0.89;-0.93	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.985	D;D;P	0.83275	0.991;0.996;0.808	D	0.86007	0.1498	10	0.72032	D	0.01	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	878;780;886	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	I	780;886	ENSP00000396339:L780I;ENSP00000263635:L886I	ENSP00000263635:L886I	L	+	1	0	TANC1	159751695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	2.861000	0.98227	0.655000	0.94253	CTC		0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			59	230	1	0	9.07738e-34	1	1.07712e-33	59	230					A	160043449	C	A	160043449	3	1	79	1	0	0	0	0	1	0	0	0	15596	913	32	3	2710	3	TANC1	2	160043449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11913	160043449	83155924	3002	13319											
TANC1	85461	broad.mit.edu	37	chr2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgactttcctttagcccTgactgccgccgcaggaagag	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1083					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTTAGCCCTGACTGCCGCC	0.562																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3247-3249)cTg>cGg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							106	114	111					2																	160074011		2033	4211	6244	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074011T>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3248T>G	2.37:g.160074011T>G	ENSP00000263635:p.Leu1083Arg					TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	p.L1083R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			20	3485	+			1083					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3248T>G	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657482	0.88154	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.91295	-2.82;-1.58	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98351	4.21	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	0.99004	1.0812	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1075;977;1083	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	977;1083	ENSP00000396339:L977R;ENSP00000263635:L1083R	ENSP00000263635:L1083R	L	+	2	0	TANC1	159782257	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.841000	0.86834	2.269000	0.75478	0.533000	0.62120	CTG		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			191	750	0	0	0	1	0	191	750					G	160074011	T	G	160074011	3	3	79	1	0	0	0	0	1	0	0	0	15596	1580	55	4	3318	4	TANC1	2	160074011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30562	160074011	83125362	3003	13320											
TANC1	85461	broad.mit.edu	37	chr2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctatctcaatttgtcgCgatgccgaagaaaaacaaat	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1344					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATTTGTCGCGATGCCGAAG	0.483																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4030-4032)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							95	96	96					2																	160084456		1912	4130	6042	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160084456C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4030C>T	2.37:g.160084456C>T	ENSP00000263635:p.Arg1344*					TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	p.R1344*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			25	4267	+			1344					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.4030C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	45	11.797480	0.99604	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6244	0.76840	0.3198:0.6802:0.0:0.0	.	.	.	.	X	1238;1344	.	.	R	+	1	2	TANC1	159792702	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	2.467000	0.45093	1.551000	0.49450	0.655000	0.94253	CGA		0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			113	341	0	0	0	1	0	113	341					T	160084456	C	T	160084456	4	4	79	1	0	0	0	0	0	1	0	0	15596	760	27	1	4120	1	TANC1	2	160084456	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10445	160084456	83114917	3004	13321											
TANC1	85461	broad.mit.edu	37	chr2	160086401	160086401	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgtcccttcctcatacatCcgaaaccttcaagaagggtt	6	13	3	1	rs369072086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1488					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCATACATCCGAAACCTTC	0.552																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4462-4464)atC>atT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							94	99	97					2																	160086401		1993	4159	6152	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086401C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4464C>T	2.37:g.160086401C>T						TANC1_ENST00000454300.1_Silent_p.I1382I	p.I1488I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	4701	+			1488					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.4464C>T	CCDS42766.1																																																																																				0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			183	480	0	0	0	1	0	183	480					T	160086401	C	T	160086401	2	4	79	1	0	0	0	0	0	0	0	1	15596	845	30	2		2	TANC1	2	160086401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1945	160086401	83112972	3005	13322											
WDSUB1	151525	broad.mit.edu	37	chr2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacatcctcctctgacCaatcttcggtaaattgcttc	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409990.3	-	9	1251	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	332	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(994-996)tGg>tAg		WD repeat, sterile alpha motif and U-box domain containing 1							103	99	100					2																	160112844		2203	4300	6503	SO:0001587	stop_gained	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160112844C>T	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.995G>A	2.37:g.160112844C>T	ENSP00000387078:p.Trp332*					WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*	p.W332*	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			9	1251	-			332			SAM.		Q53TI9|Q8N6N8	Nonsense_Mutation	SNP	ENST00000409990.3	37	c.995G>A	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	38	6.809114	0.97853	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	332;240;332;332;332	.	ENSP00000350866:W240X	W	-	2	0	WDSUB1	159821090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	TGG		0.333	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		68	228	0	0	0	1	0	68	228					T	160112844	C	T	160112844	4	4	79	1	0	0	0	0	0	1	0	0	17395	595	21	2	447	2	WDSUB1	2	160112844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26443	160112844	83086529	3006	13323											
BAZ2B	29994	broad.mit.edu	37	chr2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcacatcaaagcccaAaactttaccaaagtttcgta	3	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1107	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAAAGCCCAAAACTTTACCA	0.423																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3319-3321)Ttg>Gtg		bromodomain adjacent to zinc finger domain, 2B							110	98	102					2																	160243016		1868	4124	5992	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160243016A>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3319T>G	2.37:g.160243016A>C	ENSP00000376534:p.Leu1107Val					AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V	p.L1107V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			22	3814	-			1107			DDT.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3319T>G	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701099|3.701099	0.68501|0.68501	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.80824	.|-1.42;-1.37;-1.42;-1.39	6.08|6.08	4.95|4.95	0.65309|0.65309	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.29273	.|U	.|0.012630	D|D	0.86814|0.86814	0.6023|0.6023	M|M	0.76574|0.76574	2.34|2.34	0.47476|0.47476	D|D	0.999432|0.999432	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.87143|0.87143	0.2204|0.2204	5|10	.|0.87932	.|D	.|0	-5.2789|-5.2789	5.7051|5.7051	0.17903|0.17903	0.8223:0.0:0.1777:0.0|0.8223:0.0:0.1777:0.0	.|.	.|1071;1107	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	C|V	167|1071;1107;1073;1007	.|ENSP00000376533:L1071V;ENSP00000376534:L1107V;ENSP00000348087:L1073V;ENSP00000339670:L1007V	.|ENSP00000339670:L1007V	F|L	-|-	2|1	0|2	BAZ2B|BAZ2B	159951262|159951262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.021000|4.021000	0.57196|0.57196	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|TTG		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			136	412	0	0	0	1	0	136	412					C	160243016	A	C	160243016	3	2	79	1	0	0	0	0	1	0	0	0	1333	11	1	4	3251	4	BAZ2B	2	160243016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130172	160243016	82956357	3007	13324											
BAZ2B	29994	broad.mit.edu	37	chr2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtctttatcatcatcatCttcttcttctgatccttctg	4	11	9	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCATCATCTTCTTCTTCT	0.323																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1948-1950)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							162	146	151					2																	160287620		1880	4110	5990	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287620C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1948G>T	2.37:g.160287620C>A	ENSP00000376534:p.Asp650Tyr					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron	p.D650Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2443	-			650			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1948G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356178	0.41700	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.08984	3.03;3.03;3.03	5.37	5.37	0.77165	.	0.197372	0.24031	U	0.042184	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.48141	0.568;0.568;0.365	T	0.01504	-1.1338	10	0.72032	D	0.01	-13.5492	17.2848	0.87138	0.0:1.0:0.0:0.0	.	454;648;650	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	Y	648;650;650	ENSP00000376533:D648Y;ENSP00000376534:D650Y;ENSP00000348087:D650Y	ENSP00000348087:D650Y	D	-	1	0	BAZ2B	159995866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.514000	0.84764	0.643000	0.83706	GAT		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			83	239	1	0	1.91593e-42	1	2.3328e-42	83	239					A	160287620	C	A	160287620	3	1	79	1	0	0	0	0	1	0	0	0	1333	913	32	3	4670	3	BAZ2B	2	160287620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44604	160287620	82911753	3008	13325											
BAZ2B	29994	broad.mit.edu	37	chr2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgatgctgtgtttttaCtgggtttacattattgctaa	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGTTTTTACTGGGTTTACA	0.428																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1723-1725)Gta>Ata		bromodomain adjacent to zinc finger domain, 2B							212	200	204					2																	160289445		1928	4136	6064	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289445C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1723G>A	2.37:g.160289445C>T	ENSP00000376534:p.Val575Ile					BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I	p.V575I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2218	-			575					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1723G>A	CCDS2209.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.30|10.30|10.30	1.313359|1.313359|1.313359	0.23908|0.23908|0.23908	.|.|.	.|.|.	ENSG00000123636|ENSG00000123636|ENSG00000123636	ENST00000546335|ENST00000441143|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|.|T;T;T;D	.|.|0.85411	.|.|0.85;0.85;0.85;-1.98	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	.|.|.	.|.|0.605656	.|.|0.12140	.|.|U	.|.|0.495959	.|T|T	.|0.75466|0.75466	.|0.3853|0.3853	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|.|P;B;B;B;B	.|.|0.46859	.|.|0.885;0.0;0.0;0.0;0.0	.|.|P;B;B;B;B	.|.|0.47981	.|.|0.563;0.002;0.002;0.003;0.001	.|T|T	.|0.61879|0.61879	.|-0.6972|-0.6972	.|5|10	.|.|0.20046	.|.|T	.|.|0.44	.|-1.6543|-1.6543	5.3963|5.3963|5.3963	0.16271|0.16271|0.16271	0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703	.|.|.	.|.|575;379;573;573;575	.|.|Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.|.|.;.;.;.;BAZ2B_HUMAN	.|N|I	-1|6|573;575;575;573	.|.|ENSP00000376533:V573I;ENSP00000376534:V575I;ENSP00000348087:V575I;ENSP00000339670:V573I	.|.|ENSP00000339670:V573I	.|S|V	-|-|-	.|2|1	.|0|0	BAZ2B|BAZ2B|BAZ2B	159997691|159997691|159997691	0.850000|0.850000|0.850000	0.29656|0.29656|0.29656	0.004000|0.004000|0.004000	0.12327|0.12327|0.12327	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	1.138000|1.138000|1.138000	0.31491|0.31491|0.31491	0.347000|0.347000|0.347000	0.23924|0.23924|0.23924	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|AGT|GTA		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			182	520	0	0	0	1	0	182	520					T	160289445	C	T	160289445	3	4	79	1	0	0	0	0	1	0	0	0	1333	565	20	2	4899	2	BAZ2B	2	160289445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1825	160289445	82909928	3009	13326											
BAZ2B	29994	broad.mit.edu	37	chr2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcttcttctagatcatCtgaatcactgctactaatgc	4	11	7	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(796-798)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							308	274	285					2																	160295624		1932	4144	6076	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295624C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.796G>T	2.37:g.160295624C>A	ENSP00000376534:p.Asp266Tyr					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y	p.D266Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			7	1291	-			266					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.796G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548459	0.65311	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999997	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	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Y	264;266;266;264;203	ENSP00000376533:D264Y;ENSP00000376534:D266Y;ENSP00000348087:D266Y;ENSP00000339670:D264Y	ENSP00000339670:D264Y	D	-	1	0	BAZ2B	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			120	602	1	0	3.0332e-58	1	3.802e-58	120	602					A	160295624	C	A	160295624	3	1	79	1	0	0	0	0	1	0	0	0	1333	913	32	3	5834	3	BAZ2B	2	160295624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6179	160295624	82903749	3010	13327											
BAZ2B	29994	broad.mit.edu	37	chr2	160304770	160304770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctttttcgggaccatttCgattactttttcccgaagtc	6	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160304770C>T	ENST00000392783.2	-	5	980	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	162	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGGACCATTTCGATTACTTTT	0.353																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(484-486)cGa>cAa		bromodomain adjacent to zinc finger domain, 2B							115	107	109					2																	160304770		1850	4092	5942	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160304770C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.485G>A	2.37:g.160304770C>T	ENSP00000376534:p.Arg162Gln					BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q	p.R162Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			5	980	-			162			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.485G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735337	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.68	5.68	0.88126	.	0.000000	0.27289	U	0.020046	T	0.29423	0.0733	L	0.48362	1.52	0.37592	D	0.920207	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998;0.997	D;D;D;D;D;D	0.83275	0.975;0.996;0.975;0.986;0.986;0.968	T	0.01045	-1.1470	10	0.44086	T	0.13	-6.2343	19.7803	0.96413	0.0:1.0:0.0:0.0	.	160;99;162;160;160;162	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	160;162;162;160;99	ENSP00000376533:R160Q;ENSP00000376534:R162Q;ENSP00000348087:R162Q;ENSP00000339670:R160Q	ENSP00000339670:R160Q	R	-	2	0	BAZ2B	160013016	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.437000	0.52863	2.686000	0.91538	0.555000	0.69702	CGA		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	345	0	0	0	1	0	13	345					T	160304770	C	T	160304770	3	4	79	1	0	0	0	0	1	0	0	0	1333	884	31	1	6153	1	BAZ2B	2	160304770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9146	160304770	82894603	3011	13328											
CD302	9936	broad.mit.edu	37	chr2	160636639	160636639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcatcatcttggtctgTccacttatcaaatgtcatat	4	11	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160636639T>C	ENST00000259053.4	-	4	389	c.346A>G	c.(346-348)Aca>Gca	p.T116A	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1701A|LY75_ENST00000554112.1_Missense_Mutation_p.T1757A|LY75_ENST00000553424.1_Missense_Mutation_p.T1701A|CD302_ENST00000429078.2_Intron|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T1757A|CD302_ENST00000480212.1_5'UTR	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	116	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTGGTCTGTCCACTTATCA	0.348																																						ENST00000504764.1																			0											c.(5269-5271)Aca>Gca									131	118	122					2																	160636639		2202	4299	6501	SO:0001583	missense	0				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160636639T>C	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.346A>G	2.37:g.160636639T>C	ENSP00000259053:p.Thr116Ala					CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.T1757A|LY75_ENST00000553424.1_Missense_Mutation_p.T1701A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1701A|CD302_ENST00000259053.4_Missense_Mutation_p.T116A|CD302_ENST00000429078.2_Intron	p.T1757A	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			37	5296	-			1624					A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	c.5269A>G	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595105	0.28445	.	.	ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.36	1.87	0.25490	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.430316	0.23114	N	0.051774	T	0.02610	0.0079	N	0.12182	0.205	0.22171	N	0.999315	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.46555	-0.9183	10	0.08837	T	0.75	-12.4594	3.5096	0.07703	0.1993:0.1593:0.0:0.6414	.	1701;1757;116	O60449-3;O60449-2;Q8IX05	.;.;CD302_HUMAN	A	116;1757;1701;1757;1701	ENSP00000259053:T116A;ENSP00000451511:T1757A;ENSP00000451446:T1701A;ENSP00000423463:T1757A;ENSP00000421035:T1701A	ENSP00000259053:T116A	T	-	1	0	LY75;CD302;LY75-CD302	160344885	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.696000	0.25541	0.090000	0.17273	0.377000	0.23210	ACA		0.348	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		49	287	0	0	0	1	0	49	287					C	160636639	T	C	160636639	3	2	79	1	0	0	0	0	1	0	0	0	3012	1667	58	4	364	4	CD302	2	160636639	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331869	160636639	82562734	3012	13329											
LY75	4065	broad.mit.edu	37	chr2	160676380	160676380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatagttggtcttcctgctCtccaatgtgtatatgacagt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160676380C>T	ENST00000263636.4	-	29	4037	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1337K	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1337	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCTTCCTGCTCTCCAATGTGT	0.353																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(4009-4011)aGa>aAa		lymphocyte antigen 75							75	78	77					2																	160676380		2202	4300	6502	SO:0001583	missense	4065							g.chr2:160676380C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4010G>A	2.37:g.160676380C>T	ENSP00000263636:p.Arg1337Lys					LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1337K	p.R1337K	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	29	4037	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.4010G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029604	0.35797	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.65	3.61	0.41365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07548	0.0190	L	0.44542	1.39	0.34409	D	0.696113	B;B;B	0.32302	0.126;0.363;0.018	B;B;B	0.35770	0.058;0.21;0.016	T	0.05321	-1.0892	9	0.02654	T	1	-22.7819	11.0666	0.47979	0.0:0.7978:0.0:0.2022	.	1337;1337;1337	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	K	1337	ENSP00000451511:R1337K;ENSP00000451446:R1337K;ENSP00000263636:R1337K;ENSP00000423463:R1337K;ENSP00000421035:R1337K	ENSP00000423463:R1337K	R	-	2	0	LY75;LY75-CD302	160384626	0.989000	0.36119	0.943000	0.38184	0.975000	0.68041	1.428000	0.34892	1.376000	0.46267	0.591000	0.81541	AGA		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			81	324	0	0	0	1	0	81	324					T	160676380	C	T	160676380	3	4	79	1	0	0	0	0	1	0	0	0	9138	913	32	2	1186	2	LY75	2	160676380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39741	160676380	82522993	3013	13330											
LY75	4065	broad.mit.edu	37	chr2	160741799	160741799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatagtaggtgcactggGcctgtcttaaaagggaacat	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160741799G>A	ENST00000263636.4	-	6	946	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75_ENST00000554112.1_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P307S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	307	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGTGCACTGGGCCTGTCTTAA	0.433																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(919-921)Ccc>Tcc		lymphocyte antigen 75							95	99	98					2																	160741799		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160741799G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.919C>T	2.37:g.160741799G>A	ENSP00000263636:p.Pro307Ser					LY75_ENST00000554112.1_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P307S	p.P307S	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	6	946	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.919C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189607	0.38707	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.77	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.34959	N	0.003546	T	0.59783	0.2219	L	0.56396	1.775	0.09310	N	1	B;B;B	0.28636	0.218;0.035;0.052	B;B;B	0.23150	0.037;0.044;0.037	T	0.55147	-0.8186	10	0.56958	D	0.05	0.0041	10.5371	0.45011	0.1508:0.0:0.8492:0.0	.	307;307;307	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	S	307	ENSP00000451511:P307S;ENSP00000451446:P307S;ENSP00000263636:P307S;ENSP00000423463:P307S;ENSP00000421035:P307S	ENSP00000423463:P307S	P	-	1	0	LY75;LY75-CD302	160450045	0.020000	0.18652	0.001000	0.08648	0.376000	0.30014	1.304000	0.33482	0.800000	0.34041	0.650000	0.86243	CCC		0.433	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			132	427	0	0	0	1	0	132	427					A	160741799	G	A	160741799	3	1	79	1	0	0	0	0	1	0	0	0	9138	1203	42	2	4369	2	LY75	2	160741799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65419	160741799	82457574	3014	13331											
PLA2R1	22925	broad.mit.edu	37	chr2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaagaaataaagccacatCtctggctctgattattcaca	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	913	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGCCACATCTCTGGCTCTG	0.363																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2737-2739)aGa>aAa		phospholipase A2 receptor 1, 180kDa							116	111	113					2																	160825793		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160825793C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2738G>A	2.37:g.160825793C>T	ENSP00000283243:p.Arg913Lys					PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			19	2944	-			913			C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2738G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735320	0.48939	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17370	2.28;2.28	5.8	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.114213	0.64402	D	0.000014	T	0.12347	0.0300	L	0.43757	1.38	0.30810	N	0.738909	B;B;B	0.24618	0.037;0.107;0.051	B;B;B	0.27608	0.038;0.028;0.081	T	0.23084	-1.0198	10	0.05525	T	0.97	.	8.1578	0.31180	0.0:0.7566:0.1605:0.083	.	913;913;913	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	913	ENSP00000283243:R913K;ENSP00000376524:R913K	ENSP00000283243:R913K	R	-	2	0	PLA2R1	160534039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.503000	0.35715	1.415000	0.47037	0.650000	0.86243	AGA		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			21	273	0	0	0	1	0	21	273					T	160825793	C	T	160825793	3	4	79	1	0	0	0	0	1	0	0	0	12052	913	32	2	1709	2	PLA2R1	2	160825793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83994	160825793	82373580	3015	13332											
ITGB6	3694	broad.mit.edu	37	chr2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggagtattcattcttgCtgtccaagtgacagagcccg	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000283249.2	-	6	1127	c.890G>T	c.(889-891)aGc>aTc	p.S297I	ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	297	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTCTTGCTGTCCAAGTG	0.448																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(889-891)aGc>aTc		integrin, beta 6							154	139	144					2																	161029111		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161029111C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.890G>T	2.37:g.161029111C>A	ENSP00000283249:p.Ser297Ile					ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I	p.S297I			P18564	ITB6_HUMAN			6	1127	-			297			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.890G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566658	0.45694	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.49	2.16	0.27623	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.596265	0.20136	N	0.098493	D	0.95714	0.8606	L	0.58101	1.795	0.24406	N	0.994683	P;P	0.42337	0.776;0.776	B;B	0.41813	0.367;0.257	D	0.90379	0.4386	10	0.52906	T	0.07	.	8.6805	0.34205	0.0:0.5591:0.0:0.4409	.	255;297	E9PEE8;P18564	.;ITB6_HUMAN	I	297;255;297;297	ENSP00000283249:S297I;ENSP00000408024:S255I;ENSP00000386828:S297I;ENSP00000386367:S297I	ENSP00000283249:S297I	S	-	2	0	ITGB6	160737357	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	0.172000	0.16704	0.181000	0.19994	0.655000	0.94253	AGC		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		18	658	1	0	1.33834e-09	1	1.40959e-09	18	658					A	161029111	C	A	161029111	3	1	79	1	0	0	0	0	1	0	0	0	7929	797	28	3	1516	3	ITGB6	2	161029111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203318	161029111	82170262	3016	13333											
RBMS1	5937	broad.mit.edu	37	chr2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtcctggtcggtggTgtggggaggcagtcctcgga	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TGGTCGGTGGTGTGGGGAGGC	0.453																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(217-219)Acc>Gcc		RNA binding motif, single stranded interacting protein 1							127	118	121					2																	161223761		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161223761T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.217A>G	2.37:g.161223761T>C	ENSP00000294904:p.Thr73Ala					RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A	p.T73A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			2	647	-			73			RRM 1.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.217A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	33	5.202186	0.94997	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.38692	1.165	0.80722	D	1	D;P;D;D;D;D	0.64830	0.994;0.938;0.99;0.97;0.973;0.987	D;P;D;D;P;D	0.73380	0.968;0.826;0.98;0.928;0.908;0.932	T	0.03403	-1.1040	10	0.72032	D	0.01	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	40;73;73;40;40;73	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	A	73;40;40;73;40;40	ENSP00000294904:T73A;ENSP00000386347:T40A;ENSP00000386571:T40A;ENSP00000376508:T73A;ENSP00000387280:T40A;ENSP00000389016:T40A	ENSP00000294904:T73A	T	-	1	0	RBMS1	160932007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.255000	0.74692	0.533000	0.62120	ACC		0.453	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		127	370	0	0	0	1	0	127	370					C	161223761	T	C	161223761	3	2	79	1	0	0	0	0	1	0	0	0	13198	1696	59	4	1051	4	RBMS1	2	161223761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	194650	161223761	81975612	3017	13334											
TBR1	10716	broad.mit.edu	37	chr2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatccgagcttgtcttgCacgatcatcccattatctcg	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	35					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(103-105)Cac>Tac		T-box, brain, 1							67	69	69					2																	162273024		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273024C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.103C>T	2.37:g.162273024C>T	ENSP00000374205:p.His35Tyr						p.H35Y	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			1	420	+			35					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.103C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518173	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86497	-2.13	5.15	5.15	0.70609	.	0.346719	0.30446	N	0.009620	T	0.79528	0.4461	L	0.29908	0.895	0.80722	D	1	P	0.35745	0.518	B	0.23150	0.044	T	0.81409	-0.0946	10	0.59425	D	0.04	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	35	Q16650	TBR1_HUMAN	Y	35	ENSP00000374205:H35Y	ENSP00000374205:H35Y	H	+	1	0	TBR1	161981270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.688000	0.91661	0.655000	0.94253	CAC		0.468	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		64	307	0	0	0	1	0	64	307					T	162273024	C	T	162273024	3	4	79	1	0	0	0	0	1	0	0	0	15699	710	25	2	105	2	TBR1	2	162273024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049263	162273024	80926349	3018	13335											
TBR1	10716	broad.mit.edu	37	chr2	162273383	162273383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacccggtcatcaccaaCggagcctacaacagcctcct	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672																																						ENST00000389554.3																			1	Substitution - coding silent(1)	p.N154N(1)	ovary(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(460-462)aaC>aaT		T-box, brain, 1							66	69	68					2																	162273383		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273383C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.462C>T	2.37:g.162273383C>T							p.N154N	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			1	779	+			154					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.462C>T	CCDS33310.1																																																																																				0.672	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		44	958	0	0	0	1	0	44	958					T	162273383	C	T	162273383	2	4	79	1	0	0	0	0	0	0	0	1	15699	535	19	1		1	TBR1	2	162273383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	162273383	80925990	3019	13336											
SLC4A10	57282	broad.mit.edu	37	chr2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggcctgccatggtttGtggctgccacagtcctctcc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000446997.1	+	20	2716	c.2623G>C	c.(2623-2625)Gtg>Ctg	p.V875L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	875					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCCATGGTTTGTGGCTGCCAC	0.473																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2566-2568)Gtg>Ctg		solute carrier family 4, sodium bicarbonate transporter, member 10							31	36	35					2																	162813580		2186	4297	6483	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813580G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2623G>C	2.37:g.162813580G>C	ENSP00000393066:p.Val875Leu					SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L	p.V856L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			20	2853	+			875					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2566G>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168728	0.94768	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93657	0.6978	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	856;845;875	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	856;845;845;844;875;875;874	ENSP00000364664:V856L;ENSP00000395797:V845L;ENSP00000272716:V845L;ENSP00000393066:V875L;ENSP00000404486:V875L	ENSP00000272716:V845L	V	+	1	0	SLC4A10	162521826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	GTG		0.473	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		8	129	0	0	0	1	0	8	129					C	162813580	G	C	162813580	3	2	79	1	0	0	0	0	1	0	0	0	14701	1377	48	5	2786	5	SLC4A10	2	162813580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	540197	162813580	80385793	3020	13337											
SLC4A10	57282	broad.mit.edu	37	chr2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccatctgtgatcaatatAtctgatgaaatgtcaaagac	7	7	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000446997.1	+	25	3345	c.3252A>G	c.(3250-3252)atA>atG	p.I1084M	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1084					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGATCAATATATCTGATGAAA	0.358																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3193-3195)atA>atG		solute carrier family 4, sodium bicarbonate transporter, member 10							55	52	53					2																	162833294		1837	4080	5917	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833294A>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3252A>G	2.37:g.162833294A>G	ENSP00000393066:p.Ile1084Met					SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I1084M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M	p.I1065M	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			25	3482	+			1084					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3195A>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669050	0.67814	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	D;D;D;D	0.83163	-1.67;-1.65;-1.66;-1.69	6.03	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.92317	3.295	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.977	D	0.90605	0.4547	10	0.87932	D	0	.	8.317	0.32106	0.1205:0.0646:0.0:0.815	.	1065;1054;1084	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	M	1065;1054;1054;1053;1084;1083	ENSP00000364664:I1065M;ENSP00000395797:I1054M;ENSP00000272716:I1054M;ENSP00000393066:I1084M	ENSP00000272716:I1054M	I	+	3	3	SLC4A10	162541540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.808000	0.38912	0.508000	0.28173	-0.302000	0.09304	ATA		0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		14	42	0	0	0	1	0	14	42					G	162833294	A	G	162833294	3	3	79	1	0	0	0	0	1	0	0	0	14701	439	16	4	3435	4	SLC4A10	2	162833294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19714	162833294	80366079	3021	13338											
SLC4A10	57282	broad.mit.edu	37	chr2	162833344	162833344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaccttctgattactgCcgataactcaaaagataagg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833344C>T	ENST00000446997.1	+	25	3395	c.3302C>T	c.(3301-3303)gCc>gTc	p.A1101V	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.A1082V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1101					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTGATTACTGCCGATAACTCA	0.343																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3244-3246)gCc>gTc		solute carrier family 4, sodium bicarbonate transporter, member 10							57	53	54					2																	162833344		1833	4086	5919	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833344C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3302C>T	2.37:g.162833344C>T	ENSP00000393066:p.Ala1101Val					SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.A1101V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V	p.A1082V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			25	3532	+			1101					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3245C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951059	0.53186	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79554	-1.28;-1.27;-1.27;-1.28	6.03	5.15	0.70609	.	0.288336	0.35291	N	0.003310	T	0.70692	0.3253	N	0.22421	0.69	0.30656	N	0.75494	B;B;B	0.26512	0.053;0.053;0.151	B;B;B	0.28916	0.096;0.096;0.06	T	0.67166	-0.5739	10	0.27785	T	0.31	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	1082;1071;1101	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	1082;1071;1071;1070;1101;1100	ENSP00000364664:A1082V;ENSP00000395797:A1071V;ENSP00000272716:A1071V;ENSP00000393066:A1101V	ENSP00000272716:A1071V	A	+	2	0	SLC4A10	162541590	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	3.943000	0.56621	1.547000	0.49401	0.655000	0.94253	GCC		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	55	0	0	0	1	0	5	55					T	162833344	C	T	162833344	3	4	79	1	0	0	0	0	1	0	0	0	14701	739	26	2	3485	2	SLC4A10	2	162833344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	162833344	80366029	3022	13339											
SLC4A10	57282	broad.mit.edu	37	chr2	162834231	162834231	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattacatttttgtcataaGctccccttcctaatcactct	2	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000446997.1	+	26	3437		c.e26-1		SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000415876.2_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTTGTCATAAGCTCCCCTTCC	0.328																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e26-1		solute carrier family 4, sodium bicarbonate transporter, member 10							74	69	70					2																	162834231		1803	4061	5864	SO:0001630	splice_region_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162834231G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3345-1G>A	2.37:g.162834231G>A						SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000272716.5_Intron		NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			26	3574	+								B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Splice_Site	SNP	ENST00000446997.1	37		CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343284	0.82022	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.415	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162542477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.600000	0.87896	0.650000	0.86243	.		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	Intron	66	383	0	0	0	1	0	66	383					A	162834231	G	A	162834231	5	1	79	1	0	0	0	0	0	0	1	0	14701	985	34	2	3531	2	SLC4A10	2	162834231	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	162834231	80365142	3023	13340											
DPP4	1803	broad.mit.edu	37	chr2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatggtcaaggttgtctTctggagttgggagacccatg	14	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	677					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAGGTTGTCTTCTGGAGTTGG	0.318																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(2029-2031)gAa>gCa		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						105	99	101					2																	162862277		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162862277T>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2030A>C	2.37:g.162862277T>G	ENSP00000353731:p.Glu677Ala					DPP4_ENST00000491591.1_5'UTR	p.E677A	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			23	2590	-			677					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2030A>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942857	0.34283	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.560335	0.20171	N	0.097723	T	0.20292	0.0488	N	0.16790	0.44	0.35475	D	0.797671	B	0.06786	0.001	B	0.12837	0.008	T	0.21075	-1.0256	10	0.27082	T	0.32	-27.9427	12.3179	0.54969	0.0:0.0674:0.0:0.9326	.	677	P27487	DPP4_HUMAN	A	677	ENSP00000353731:E677A	ENSP00000353731:E677A	E	-	2	0	DPP4	162570523	0.941000	0.31946	1.000000	0.80357	0.884000	0.51177	0.838000	0.27572	2.296000	0.77279	0.533000	0.62120	GAA		0.318	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			30	131	0	0	0	1	0	30	131					G	162862277	T	G	162862277	3	3	79	1	0	0	0	0	1	0	0	0	4745	1783	62	4	286	4	DPP4	2	162862277	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28046	162862277	80337096	3024	13341											
DPP4	1803	broad.mit.edu	37	chr2	162865071	162865071	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggcagcaattacataCcatagtactcccaccgggat	7	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATTACATACCATAGTACTC	0.478																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.e22+1		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						79	75	76					2																	162865071		2203	4300	6503	SO:0001630	splice_region_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865071C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1987+1G>A	2.37:g.162865071C>T						DPP4_ENST00000491591.1_Splice_Site		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2548	-								Q53TN1	Splice_Site	SNP	ENST00000360534.3	37		CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018506	0.93404	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162573317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.		0.478	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		Intron	76	253	0	0	0	1	0	76	253					T	162865071	C	T	162865071	5	4	79	1	0	0	0	0	0	0	1	0	4745	521	18	2	332	2	DPP4	2	162865071	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2794	162865071	80334302	3025	13342											
GCG	2641	broad.mit.edu	37	chr2	163003925	163003925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcctggagtccagataCttgctgtagtcactggtgaa	12	10	1	2	rs375447933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	64					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)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGTCCAGATACTTGCTGTAGT	0.483																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(190-192)aaG>aaA		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						243	240	241					2																	163003925		2022	4190	6212	SO:0001819	synonymous_variant	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.chr2:163003925C>T		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.192G>A	2.37:g.163003925C>T						GCG_ENST00000375497.3_Silent_p.K64K	p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			3	446	-			64					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.192G>A	CCDS46439.1																																																																																				0.483	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		289	800	0	0	0	1	0	289	800					T	163003925	C	T	163003925	2	4	79	1	0	0	0	0	0	0	0	1	6318	564	20	2		2	GCG	2	163003925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138854	163003925	80195448	3026	13343											
FAP	2191	broad.mit.edu	37	chr2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtactatattgttatctgcaGattgatgaagatattcttgt	8	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTTATCTGCAGATTGATGAAG	0.299																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(211-213)tCt>tTt		fibroblast activation protein, alpha							122	127	126					2																	163082066		2199	4298	6497	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163082066G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.212C>T	2.37:g.163082066G>A	ENSP00000188790:p.Ser71Phe					FAP_ENST00000443424.1_Missense_Mutation_p.S71F	p.S71F	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			4	419	-			71						Missense_Mutation	SNP	ENST00000188790.4	37	c.212C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074541	0.55646	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96104	-3.91;1.28	5.68	5.68	0.88126	.	0.496726	0.21739	N	0.069855	D	0.95529	0.8547	M	0.63428	1.95	0.33629	D	0.605844	P;P;P	0.52170	0.732;0.951;0.92	B;P;B	0.49708	0.321;0.62;0.402	D	0.98556	1.0639	10	0.72032	D	0.01	-1.1315	14.4727	0.67526	0.0:0.0:0.8538:0.1462	.	71;71;71	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	71;71;50	ENSP00000188790:S71F;ENSP00000411391:S71F	ENSP00000188790:S71F	S	-	2	0	FAP	162790312	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.750000	0.55157	2.675000	0.91044	0.655000	0.94253	TCT		0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			53	174	0	0	0	1	0	53	174					A	163082066	G	A	163082066	3	1	79	1	0	0	0	0	1	0	0	0	5698	942	33	2	2162	2	FAP	2	163082066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78141	163082066	80117307	3027	13344											
IFIH1	64135	broad.mit.edu	37	chr2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttttgcaaaggaaagTtattagtgatgggttattct	11	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	904					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2710-2712)Act>Gct		interferon induced with helicase C domain 1							130	136	134					2																	163124694		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124694T>C	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2710A>G	2.37:g.163124694T>C	ENSP00000263642:p.Thr904Ala						p.T904A	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			14	3105	-			904					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2710A>G	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034499	0.35893	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43688	0.94	5.31	5.31	0.75309	C-terminal domain of RIG-I (1);	0.350310	0.35291	N	0.003313	T	0.39489	0.1080	M	0.62723	1.935	0.41933	D	0.990576	B	0.27765	0.188	B	0.24006	0.05	T	0.27400	-1.0075	10	0.13470	T	0.59	-0.9591	15.2788	0.73764	0.0:0.0:0.0:1.0	.	904	Q9BYX4	IFIH1_HUMAN	A	904	ENSP00000263642:T904A	ENSP00000263642:T904A	T	-	1	0	IFIH1	162832940	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.717000	0.68446	2.013000	0.59113	0.528000	0.53228	ACT		0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		62	249	0	0	0	1	0	62	249					C	163124694	T	C	163124694	3	2	79	1	0	0	0	0	1	0	0	0	7550	1725	60	4	379	4	IFIH1	2	163124694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42628	163124694	80074679	3028	13345											
IFIH1	64135	broad.mit.edu	37	chr2	163130398	163130398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctgccactgtggtagcGataagcagatttatttttcc	8	9	2	1	rs35677292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17234	0.0		0.001	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2359-2361)atC>atT		interferon induced with helicase C domain 1		G		1,4405	2.1+/-5.4	0,1,2202	140	130	133		2361	1.3	1	2	dbSNP_126	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IFIH1	NM_022168.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		787/1026	163130398	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163130398G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2361C>T	2.37:g.163130398G>A							p.I787I	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			12	2756	-			787			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.2361C>T	CCDS2217.1																																																																																				0.338	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		74	391	0	0	0	1	0	74	391					A	163130398	G	A	163130398	2	1	79	1	0	0	0	0	0	0	0	1	7550	1048	37	1		1	IFIH1	2	163130398	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	163130398	80068975	3029	13346											
IFIH1	64135	broad.mit.edu	37	chr2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatgttctgcacaaacaCgttctttgcgatttccttct	5	11	4	0	rs200945986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	598				R -> S (in Ref. 2; AAG54076). {ECO:0000305}.	cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21117	0.0		0.0	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1792-1794)cGt>cAt		interferon induced with helicase C domain 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	106	100	102		1793	5.7	1	2		102	0,8596		0,0,4298	no	missense	IFIH1	NM_022168.2	29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	598/1026	163134176	2,13000	2203	4298	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134176C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1793G>A	2.37:g.163134176C>T	ENSP00000263642:p.Arg598His						p.R598H	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			10	2188	-			598	R -> S (in Ref. 2; AAG54076).				Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1793G>A	CCDS2217.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.05	3.537964	0.65085	4.54E-4	0.0	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06294	3.32	5.66	5.66	0.87406	.	0.048663	0.85682	D	0.000000	T	0.08492	0.0211	M	0.78916	2.43	0.54753	D	0.999983	P	0.39964	0.697	B	0.28991	0.097	T	0.03761	-1.1006	10	0.42905	T	0.14	-13.7346	10.2205	0.43194	0.0:0.8533:0.0:0.1467	.	598	Q9BYX4	IFIH1_HUMAN	H	598	ENSP00000263642:R598H	ENSP00000263642:R598H	R	-	2	0	IFIH1	162842422	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.782000	0.62396	2.665000	0.90641	0.563000	0.77884	CGT		0.333	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		54	259	0	0	0	1	0	54	259					T	163134176	C	T	163134176	3	4	79	1	0	0	0	0	1	0	0	0	7550	536	19	1	1312	1	IFIH1	2	163134176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3778	163134176	80065197	3030	13347											
IFIH1	64135	broad.mit.edu	37	chr2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaggtggcgactgtcctctGaatctgctccttcacctctg	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	47	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(139-141)Cag>Tag		interferon induced with helicase C domain 1							75	69	71					2																	163174679		2203	4300	6503	SO:0001587	stop_gained	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174679G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.139C>T	2.37:g.163174679G>A	ENSP00000263642:p.Gln47*					IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			1	534	-			47			CARD 1.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Nonsense_Mutation	SNP	ENST00000263642.2	37	c.139C>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112797	0.98070	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	.	.	.	5.73	2.7	0.31948	.	1.140500	0.06335	N	0.706983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.5357	9.8127	0.40833	0.0:0.2537:0.4844:0.2619	.	.	.	.	X	47	.	ENSP00000263642:Q47X	Q	-	1	0	IFIH1	162882925	0.023000	0.18921	0.099000	0.21106	0.515000	0.34225	1.142000	0.31540	0.713000	0.32060	0.655000	0.94253	CAG		0.562	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		81	237	0	0	0	1	0	81	237					A	163174679	G	A	163174679	4	1	79	1	0	0	0	0	0	1	0	0	7550	1299	45	2	3002	2	IFIH1	2	163174679	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40503	163174679	80024694	3031	13348											
KCNH7	90134	broad.mit.edu	37	chr2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catctttgagaatttcaatgGagcctctggataagaaataa	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	789					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATTTCAATGGAGCCTCTGGA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2365-2367)tCc>tAc		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						111	112	112					2																	163256740		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256740G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2366C>A	2.37:g.163256740G>T	ENSP00000331727:p.Ser789Tyr						p.S789Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			10	2465	-			789					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2366C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635925	0.87760	.	.	ENSG00000184611	ENST00000332142	D	0.92965	-3.14	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96840	0.9617	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	789	Q9NS40	KCNH7_HUMAN	Y	789	ENSP00000331727:S789Y	ENSP00000331727:S789Y	S	-	2	0	KCNH7	162964986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	TCC		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		88	485	1	0	7.28744e-38	1	8.7633e-38	88	485					T	163256740	G	T	163256740	3	4	79	1	0	0	0	0	1	0	0	0	8067	1174	41	3	1252	3	KCNH7	2	163256740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82061	163256740	79942633	3032	13349											
KCNH7	90134	broad.mit.edu	37	chr2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctggaaatattcttcaaGacgttgcctcagagggttgg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	700					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L700I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATTCTTCAAGACGTTGCCTC	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.L700I(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2098-2100)Ctt>Ttt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						253	235	242					2																	163279902		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279902G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2098C>T	2.37:g.163279902G>A	ENSP00000331727:p.Leu700Phe					KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	p.L700F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2197	-			700					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2098C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206461	0.95033	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96913	-4.17;-4.17	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98837	1.0753	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	700;693	ENSP00000331727:L700F;ENSP00000333781:L693F	ENSP00000333781:L693F	L	-	1	0	KCNH7	162988148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.729000	0.74775	2.824000	0.97209	0.655000	0.94253	CTT		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		258	713	0	0	0	1	0	258	713					A	163279902	G	A	163279902	3	1	79	1	0	0	0	0	1	0	0	0	8067	942	33	2	1590	2	KCNH7	2	163279902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	163279902	79919471	3033	13350											
KCNH7	90134	broad.mit.edu	37	chr2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcatgtcagggtagagtCggtcccattgccttttggga	14	9	1	1	rs373376905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	246					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R246Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGGTAGAGTCGGTCCCATTG	0.478																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.R246Q(1)	biliary_tract(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(736-738)cGa>cAa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139	130	133		737,737	5.9	1	2		133	0,8600		0,0,4300	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	246/1197,246/733	163374395	1,13005	2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374395C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.737G>A	2.37:g.163374395C>T	ENSP00000331727:p.Arg246Gln					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q	p.R246Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	836	-			246					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.737G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096976	0.56075	2.27E-4	0.0	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98617	-5.03;-5.03	5.9	5.9	0.94986	.	0.063150	0.64402	D	0.000004	D	0.95452	0.8523	N	0.19112	0.55	0.39103	D	0.961326	B;B	0.18461	0.01;0.028	B;B	0.12837	0.003;0.008	D	0.92969	0.6396	10	0.23891	T	0.37	.	13.4585	0.61212	0.0:0.9285:0.0:0.0715	.	246;246	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	246	ENSP00000331727:R246Q;ENSP00000333781:R246Q	ENSP00000333781:R246Q	R	-	2	0	KCNH7	163082641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.267000	0.43329	2.791000	0.96007	0.655000	0.94253	CGA		0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		129	375	0	0	0	1	0	129	375					T	163374395	C	T	163374395	3	4	79	1	0	0	0	0	1	0	0	0	8067	884	31	1	2971	1	KCNH7	2	163374395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94493	163374395	79824978	3034	13351											
KCNH7	90134	broad.mit.edu	37	chr2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgggtccatggagaaagtCgcaggtgcatggcttttgca	14	9	0	1	rs138091231	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGAAAGTCGCAGGTGCAT	0.507													C|||	3	0.000599042	0.0	0.0043	5008	,	,		16479	0.0		0.0	False		,,,				2504	0.0				GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(199-201)Gac>Aac		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	96	80	85		199,199	5.9	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	67/1197,67/733	163693155	1,13005	2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693155C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.199G>A	2.37:g.163693155C>T	ENSP00000331727:p.Asp67Asn					KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			2	298	-			67			PAS.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.199G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479148	0.96307	0.0	1.16E-4	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99563	-6.17;-6.17	5.87	5.87	0.94306	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.42483	0.781;0.477	B;P	0.48270	0.307;0.572	D	0.99880	1.1112	10	0.52906	T	0.07	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	67;67	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	67	ENSP00000331727:D67N;ENSP00000333781:D67N	ENSP00000333781:D67N	D	-	1	0	KCNH7	163401401	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.913000	0.63341	2.785000	0.95823	0.655000	0.94253	GAC		0.507	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		71	199	0	0	0	1	0	71	199					T	163693155	C	T	163693155	3	4	79	1	0	0	0	0	1	0	0	0	8067	884	31	1	3517	1	KCNH7	2	163693155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318760	163693155	79506218	3035	13352											
FIGN	55137	broad.mit.edu	37	chr2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggttaccaggtcgatgaGgtgcgtgtcagtattcttca	12	7	3	1	rs372466697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	468					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1402-1404)Ctc>Ttc		fidgetin							138	133	135					2																	164466940		2115	4227	6342	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466940G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1402C>T	2.37:g.164466940G>A	ENSP00000333836:p.Leu468Phe					FIGN_ENST00000409634.1_Intron	p.L468F	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1716	-			468					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1402C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832114	0.32421	.	.	ENSG00000182263	ENST00000333129	D	0.93859	-3.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.70787	2.145	0.80722	D	1	B	0.25667	0.131	B	0.36808	0.233	D	0.92063	0.5658	10	0.72032	D	0.01	-5.8839	20.2723	0.98479	0.0:0.0:1.0:0.0	.	468	Q5HY92	FIGN_HUMAN	F	468	ENSP00000333836:L468F	ENSP00000333836:L468F	L	-	1	0	FIGN	164175186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.789000	0.69029	2.793000	0.96121	0.563000	0.77884	CTC		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		62	303	0	0	0	1	0	62	303					A	164466940	G	A	164466940	3	1	79	1	0	0	0	0	1	0	0	0	5916	1000	35	2	881	2	FIGN	2	164466940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	773785	164466940	78732433	3036	13353											
FIGN	55137	broad.mit.edu	37	chr2	164468186	164468186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcatcattcgcccaggcGtactgataggtgcgctgcag	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	52					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(154-156)taC>taT		fidgetin							132	132	132					2																	164468186		2044	4195	6239	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468186G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.156C>T	2.37:g.164468186G>A						FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	p.Y52Y	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	470	-			52					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.156C>T	CCDS2221.2																																																																																				0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		132	583	0	0	0	1	0	132	583					A	164468186	G	A	164468186	2	1	79	1	0	0	0	0	0	0	0	1	5916	1140	40	1		1	FIGN	2	164468186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	164468186	78731187	3037	13354											
GRB14	2888	broad.mit.edu	37	chr2	165353553	165353553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaataatcaatcgctgAgcctcatctctagaaatttt	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000543549.1_Silent_p.A362A|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	449	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1345-1347)gcT>gcC		growth factor receptor-bound protein 14							86	81	83					2																	165353553		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353553A>G		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1347T>C	2.37:g.165353553A>G						GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	p.A449A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			12	1885	-			449			SH2.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1347T>C	CCDS2222.1																																																																																				0.383	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			16	296	0	0	0	1	0	16	296					G	165353553	A	G	165353553	2	3	79	1	0	0	0	0	0	0	0	1	6787	291	11	4		4	GRB14	2	165353553	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885367	165353553	77845820	3038	13355											
GRB14	2888	broad.mit.edu	37	chr2	165404219	165404219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtccagctgtggtcatcAatgtaatgattcttcaggat	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	144	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(430-432)atT>atC		growth factor receptor-bound protein 14							104	93	97					2																	165404219		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404219A>G		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.432T>C	2.37:g.165404219A>G						GRB14_ENST00000543549.1_Silent_p.I57I	p.I144I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			3	970	-			144			Ras-associating.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.432T>C	CCDS2222.1																																																																																				0.428	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			49	258	0	0	0	1	0	49	258					G	165404219	A	G	165404219	2	3	79	1	0	0	0	0	0	0	0	1	6787	126	5	4		4	GRB14	2	165404219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50666	165404219	77795154	3039	13356											
COBLL1	22837	broad.mit.edu	37	chr2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaggagctgtgccagtgtCtcttgtcattttgggagcag	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000392717.2	-	13	2726	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N	COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D832N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGCCAGTGTCTCTTGTCATT	0.448																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2494-2496)Gac>Aac		cordon-bleu WH2 repeat protein-like 1							94	90	92					2																	165551408		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551408C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2722G>A	2.37:g.165551408C>T	ENSP00000376478:p.Asp908Asn					COBLL1_ENST00000392717.2_Missense_Mutation_p.D908N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N	p.D832N	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2715	-			908					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2494G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850455	0.32699	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	4.28	0.50868	.	0.246856	0.36234	N	0.002708	T	0.50188	0.1601	L	0.60455	1.87	0.09310	N	0.999998	P;P;D	0.69078	0.834;0.834;0.997	B;B;D	0.64410	0.265;0.265;0.925	T	0.41106	-0.9527	9	0.31617	T	0.26	-9.929	4.2721	0.10792	0.2381:0.5568:0.1268:0.0783	.	908;937;870	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	832;870;870;908;937	.	ENSP00000194871:D937N	D	-	1	0	COBLL1	165259654	0.071000	0.21146	0.476000	0.27291	0.111000	0.19643	0.565000	0.23578	1.607000	0.50170	-0.211000	0.12701	GAC		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		84	476	0	0	0	1	0	84	476					T	165551408	C	T	165551408	3	4	79	1	0	0	0	0	1	0	0	0	3663	913	32	2	904	2	COBLL1	2	165551408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147189	165551408	77647965	3040	13357											
SCN3A	6328	broad.mit.edu	37	chr2	166019220	166019220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatttattcctcagattGcccatgaacagctgcagccc	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000360093.3	-	8	1304	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	271					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTCAGATTGCCCATGAACA	0.473																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(811-813)ggC>ggT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						114	109	111					2																	166019220		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019220G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.813C>T	2.37:g.166019220G>A						SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			8	1304	-			271					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.813C>T																																																																																					0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		120	337	0	0	0	1	0	120	337					A	166019220	G	A	166019220	2	1	79	1	0	0	0	0	0	0	0	1	13968	1306	46	2		2	SCN3A	2	166019220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467812	166019220	77180153	3041	13358											
SCN2A	6326	broad.mit.edu	37	chr2	166231251	166231251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaatgtacttctggtTtgtctgatcttttggctaat	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000357398.3_Silent_p.V1343V|SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1343					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)			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)	TACTTCTGGTTTGTCTGATCT	0.378																																						ENST00000375437.2																			0				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						c.(4027-4029)gtT>gtG		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						162	153	156					2																	166231251		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231251T>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4029T>G	2.37:g.166231251T>G						SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000357398.3_Silent_p.V1343V	p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4319	+			1343					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4029T>G	CCDS33314.1																																																																																				0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		17	598	0	0	0	1	0	17	598					G	166231251	T	G	166231251	2	3	79	1	0	0	0	0	0	0	0	1	13966	1828	64	4		4	SCN2A	2	166231251	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212031	166231251	76968122	3042	13359											
SCN2A	6326	broad.mit.edu	37	chr2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtaaactttgataacgtagGacttggatatctgtctctac	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1409					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)			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)	GATAACGTAGGACTTGGATAT	0.348																																						ENST00000375437.2																			0				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						c.(4225-4227)gGa>gTa		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						52	51	51					2																	166231448		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231448G>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.4226G>T	2.37:g.166231448G>T	ENSP00000364586:p.Gly1409Val					SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V	p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4516	+			1409					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4226G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091442	0.55968	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.67	4.67	0.58626	Ion transport (1);	0.069003	0.56097	D	0.000037	D	0.98902	0.9628	H	0.95645	3.7	0.80722	D	1	D;P	0.60160	0.987;0.945	D;D	0.68765	0.96;0.933	D	0.99675	1.0997	10	0.87932	D	0	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1409;1409	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1409	ENSP00000364586:G1409V;ENSP00000349973:G1409V;ENSP00000283256:G1409V;ENSP00000364576:G1409V	ENSP00000283256:G1409V	G	+	2	0	SCN2A	165939694	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	7.885000	0.87282	2.291000	0.77112	0.655000	0.94253	GGA		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		48	192	1	0	1.06522e-23	1	1.21267e-23	48	192					T	166231448	G	T	166231448	3	4	79	1	0	0	0	0	1	0	0	0	13966	1174	41	3	4404	3	SCN2A	2	166231448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197	166231448	76967925	3043	13360											
SCN2A	6326	broad.mit.edu	37	chr2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatctgccttaacatgGtcaccatgatggtggaaacc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1546					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)			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)	CCTTAACATGGTCACCATGAT	0.373																																						ENST00000375437.2																			0				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						c.(4636-4638)Gtc>Atc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						174	156	163					2																	166243340		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243340G>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.4636G>A	2.37:g.166243340G>A	ENSP00000364586:p.Val1546Ile					SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I	p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			26	4926	+			1546					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4636G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118074	0.56505	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.93913	0.8052	L	0.28776	0.89	0.80722	D	1	P;B	0.39216	0.664;0.009	B;B	0.35688	0.208;0.02	D	0.93458	0.6808	10	0.33940	T	0.23	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1546;1546	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1546	ENSP00000364586:V1546I;ENSP00000349973:V1546I;ENSP00000283256:V1546I;ENSP00000364576:V1546I	ENSP00000283256:V1546I	V	+	1	0	SCN2A	165951586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.418000	0.82041	0.650000	0.86243	GTC		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		83	219	0	0	0	1	0	83	219					A	166243340	G	A	166243340	3	1	79	1	0	0	0	0	1	0	0	0	13966	1261	44	2	4830	2	SCN2A	2	166243340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11892	166243340	76956033	3044	13361											
CSRNP3	80034	broad.mit.edu	37	chr2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagcagcaaatccccacgCtgaatggctgccacagtgag	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000342316.4	+	5	1134	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M|CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	288					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(862-864)Ctg>Atg		cysteine-serine-rich nuclear protein 3							69	68	68					2																	166535367		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535367C>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.862C>A	2.37:g.166535367C>A	ENSP00000344042:p.Leu288Met					CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M|CSRNP3_ENST00000342316.4_Missense_Mutation_p.L288M	p.L288M	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			7	1238	+			288					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.862C>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274116	0.40194	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.71	5.71	0.89125	.	0.351845	0.29838	N	0.011074	T	0.13286	0.0322	N	0.08118	0	0.38413	D	0.945977	P	0.49447	0.924	P	0.47981	0.563	T	0.18085	-1.0348	10	0.31617	T	0.26	-9.333	14.4442	0.67338	0.0:0.853:0.147:0.0	.	288	Q8WYN3	CSRN3_HUMAN	M	288;295;288;288;320	ENSP00000412081:L288M;ENSP00000318258:L288M;ENSP00000344042:L288M;ENSP00000387195:L320M	ENSP00000318258:L288M	L	+	1	2	CSRNP3	166243613	0.956000	0.32656	0.998000	0.56505	0.943000	0.58893	1.839000	0.39220	2.683000	0.91414	0.650000	0.86243	CTG		0.438	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		112	255	1	0	4.70087e-54	1	5.86491e-54	112	255					A	166535367	C	A	166535367	3	1	79	1	0	0	0	0	1	0	0	0	3976	796	28	3	876	3	CSRNP3	2	166535367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292027	166535367	76664006	3045	13362											
TTC21B	79809	broad.mit.edu	37	chr2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccatgtcatattttgCtgattgaatgtaaatatcag	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1211					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3631-3633)Gca>Tca		tetratricopeptide repeat domain 21B							129	127	127					2																	166740357		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166740357C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3631G>T	2.37:g.166740357C>A	ENSP00000243344:p.Ala1211Ser					TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	p.A1211S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			26	3768	-			1211					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3631G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.668998	0.47677	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.36878	1.23;1.23	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.157596	0.56097	D	0.000038	T	0.19287	0.0463	N	0.03999	-0.3	0.33236	D	0.556598	B	0.16166	0.016	B	0.14023	0.01	T	0.15636	-1.0430	10	0.22109	T	0.4	-9.5148	15.3142	0.74059	0.2025:0.7975:0.0:0.0	.	1211	Q7Z4L5	TT21B_HUMAN	S	149;1211	ENSP00000438692:A149S;ENSP00000243344:A1211S	ENSP00000243344:A1211S	A	-	1	0	TTC21B	166448603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.958000	0.56737	2.774000	0.95407	0.585000	0.79938	GCA		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		77	302	1	0	5.72124e-26	1	6.58255e-26	77	302					A	166740357	C	A	166740357	3	1	79	1	0	0	0	0	1	0	0	0	16742	797	28	3	335	3	TTC21B	2	166740357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204990	166740357	76459016	3046	13363											
TTC21B	79809	broad.mit.edu	37	chr2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaaagtgagtgtccaGgacatcatttaacaaattaa	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	423					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1267-1269)Ctg>Atg		tetratricopeptide repeat domain 21B							68	72	71					2																	166785764		2202	4299	6501	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166785764G>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1267C>A	2.37:g.166785764G>T	ENSP00000243344:p.Leu423Met						p.L423M	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			11	1404	-			423					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1267C>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201929	0.22121	.	.	ENSG00000123607	ENST00000243344	T	0.35421	1.31	5.38	-3.4	0.04853	Tetratricopeptide-like helical (1);	0.139563	0.48767	D	0.000169	T	0.37156	0.0993	L	0.50919	1.6	0.80722	D	1	D;P	0.55605	0.972;0.71	P;B	0.54629	0.757;0.352	T	0.22695	-1.0209	10	0.59425	D	0.04	-2.5633	7.1948	0.25847	0.443:0.1112:0.4458:0.0	.	423;423	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	423	ENSP00000243344:L423M	ENSP00000243344:L423M	L	-	1	2	TTC21B	166494010	0.778000	0.28640	0.003000	0.11579	0.311000	0.27955	0.853000	0.27777	-1.009000	0.03400	-0.144000	0.13903	CTG		0.303	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		48	162	1	0	2.77807e-22	1	3.14147e-22	48	162					T	166785764	G	T	166785764	3	4	79	1	0	0	0	0	1	0	0	0	16742	991	35	3	2759	3	TTC21B	2	166785764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45407	166785764	76413609	3047	13364											
TTC21B	79809	broad.mit.edu	37	chr2	166805950	166805950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatcagtgcaagtagagaAcaaagtgatacatcttgttt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	72					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(214-216)tgT>tgC		tetratricopeptide repeat domain 21B							125	140	135					2																	166805950		2203	4299	6502	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166805950A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.216T>C	2.37:g.166805950A>G						AC010127.5_ENST00000440322.1_RNA	p.C72C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			3	353	-			72					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.216T>C	CCDS33315.1																																																																																				0.299	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		49	683	0	0	0	1	0	49	683					G	166805950	A	G	166805950	2	3	79	1	0	0	0	0	0	0	0	1	16742	41	2	4		4	TTC21B	2	166805950	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20186	166805950	76393423	3048	13365											
SCN1A	6323	broad.mit.edu	37	chr2	166848102	166848102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttggaaggattggaagCcatgaatcgctcttccatct	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848102C>T	ENST00000303395.4	-	26	5682	c.5683G>A	c.(5683-5685)Gct>Act	p.A1895T	SCN1A_ENST00000423058.2_Missense_Mutation_p.A1895T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1867T|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1895					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)			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)	GGATTGGAAGCCATGAATCGC	0.428																																						ENST00000423058.2																			0				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						c.(5683-5685)Gct>Act		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						99	93	95					2																	166848102		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848102C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5683G>A	2.37:g.166848102C>T	ENSP00000303540:p.Ala1895Thr					SCN1A_ENST00000303395.4_Missense_Mutation_p.A1895T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1867T	p.A1895T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5700	-			1895					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5683G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468538	0.43839	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96365	-3.99;-3.99;-3.95;-3.93	5.6	4.66	0.58398	.	0.204155	0.34484	N	0.003928	D	0.97470	0.9172	M	0.84433	2.695	0.51233	D	0.999914	P	0.51240	0.943	P	0.53861	0.736	D	0.97903	1.0304	10	0.87932	D	0	.	15.6895	0.77439	0.0:0.7611:0.2389:0.0	.	1884	P35498-2	.	T	1895;1895;1884;1867	ENSP00000407030:A1895T;ENSP00000303540:A1895T;ENSP00000364554:A1884T;ENSP00000386312:A1867T	ENSP00000303540:A1895T	A	-	1	0	SCN1A	166556348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.881000	0.56152	2.788000	0.95919	0.650000	0.86243	GCT		0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	577	0	0	0	1	0	10	577					T	166848102	C	T	166848102	3	4	79	1	0	0	0	0	1	0	0	0	13964	739	26	2	350	2	SCN1A	2	166848102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42152	166848102	76351271	3049	13366											
SCN1A	6323	broad.mit.edu	37	chr2	166848892	166848892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcggaacagggtaggGgacacgaaatacttttctat	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000303395.4	-	26	4892	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	SCN1A_ENST00000423058.2_Silent_p.S1631S|SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1603S|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1631					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)			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)	ACAGGGTAGGGGACACGAAAT	0.433																																						ENST00000423058.2																			0				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						c.(4891-4893)tcC>tcA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100	99	100					2																	166848892		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848892G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4893C>A	2.37:g.166848892G>T						SCN1A_ENST00000303395.4_Silent_p.S1631S|SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1603S	p.S1631S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4910	-			1631					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.4893C>A	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		76	443	1	0	9.59377e-39	1	1.15749e-38	76	443					T	166848892	G	T	166848892	2	4	79	1	0	0	0	0	0	0	0	1	13964	1219	43	3		3	SCN1A	2	166848892	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	166848892	76350481	3050	13367											
SCN1A	6323	broad.mit.edu	37	chr2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtctcatttctttctAttagttttaggcaatcagta	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000303395.4	-	21	4198	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1400					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)			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)	ATTTCTTTCTATTAGTTTTAG	0.353																																						ENST00000423058.2																			0				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						c.(4198-4200)aTa>aCa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100	98	99					2																	166859067		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859067A>G	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.4199T>C	2.37:g.166859067A>G	ENSP00000303540:p.Ile1400Thr					SCN1A_ENST00000303395.4_Missense_Mutation_p.I1400T|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T	p.I1400T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4216	-			1400					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4199T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138074	0.56936	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.85	5.54	5.54	0.83059	Ion transport (1);	0.149996	0.48767	D	0.000179	D	0.94666	0.8280	L	0.37800	1.135	0.42774	D	0.99384	D;B;B	0.58620	0.983;0.157;0.078	P;B;B	0.56042	0.79;0.042;0.089	D	0.93124	0.6527	10	0.21014	T	0.42	.	14.5302	0.67920	1.0:0.0:0.0:0.0	.	1389;1372;1400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1400;1400;1389;1372	ENSP00000407030:I1400T;ENSP00000303540:I1400T;ENSP00000364554:I1389T;ENSP00000386312:I1372T	ENSP00000303540:I1400T	I	-	2	0	SCN1A	166567313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.324000	0.59228	2.226000	0.72624	0.482000	0.46254	ATA		0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		94	268	0	0	0	1	0	94	268					G	166859067	A	G	166859067	3	3	79	1	0	0	0	0	1	0	0	0	13964	449	16	4	1854	4	SCN1A	2	166859067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10175	166859067	76340306	3051	13368											
SCN1A	6323	broad.mit.edu	37	chr2	166900413	166900413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacaaggaatctctacgGctctcgttatcctcaaaggt	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000303395.4	-	11	1808	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S603S|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	603					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)			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)	AATCTCTACGGCTCTCGTTAT	0.532																																						ENST00000423058.2																			0				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						c.(1807-1809)agC>agT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						172	149	157					2																	166900413		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900413G>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.1809C>T	2.37:g.166900413G>A						SCN1A_ENST00000303395.4_Silent_p.S603S|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S	p.S603S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1826	-			603					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.1809C>T	CCDS54413.1																																																																																				0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		83	369	0	0	0	1	0	83	369					A	166900413	G	A	166900413	2	1	79	1	0	0	0	0	0	0	0	1	13964	1194	42	2		2	SCN1A	2	166900413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41346	166900413	76298960	3052	13369											
SCN1A	6323	broad.mit.edu	37	chr2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcacagttatattcttttCtatactatgttcctccaagg	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000303395.4	-	6	876	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	293					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)			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)	ATATTCTTTTCTATACTATGT	0.358																																						ENST00000423058.2																			0				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						c.(877-879)Gaa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						69	72	71					2																	166908316		2203	4298	6501	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908316C>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.877G>T	2.37:g.166908316C>A	ENSP00000303540:p.Glu293*					SCN1A_ENST00000303395.4_Nonsense_Mutation_p.E293*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*	p.E293*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	894	-			293					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.877G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557946	0.65538	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.454372	0.20978	N	0.082277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.7602	0.78073	0.0:0.7294:0.2706:0.0	.	.	.	.	X	293	.	ENSP00000303540:E293X	E	-	1	0	SCN1A	166616562	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	1.026000	0.30103	2.688000	0.91661	0.655000	0.94253	GAA		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	196	1	0	2.81731e-10	1	2.98404e-10	32	196					A	166908316	C	A	166908316	4	1	79	1	0	0	0	0	0	1	0	0	13964	922	32	3	5236	3	SCN1A	2	166908316	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7903	166908316	76291057	3053	13370											
SCN9A	6335	broad.mit.edu	37	chr2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcaggtttttccatcGcacattttgactaacattca	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000409435.1	-	21	4140	c.4141C>T	c.(4141-4143)Cga>Tga	p.R1381*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). {ECO:0000269|PubMed:20635406}.		behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCCATCGCACATTTTGA	0.398																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4144-4146)Cga>Tga		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						209	206	207					2																	167085266		1911	4151	6062	SO:0001587	stop_gained	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085266G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4141C>T	2.37:g.167085266G>A	ENSP00000386330:p.Arg1381*					SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R1381*	p.R1382*			Q15858	SCN9A_HUMAN			22	4484	-			1381		Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel).			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	ENST00000409435.1	37	c.4144C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	45	12.055428	0.99631	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.23	2.35	0.29111	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7708	0.69675	0.0:0.0:0.3767:0.6233	.	.	.	.	X	1370;1382;1382;1381	.	ENSP00000304748:R1382X	R	-	1	2	SCN9A	166793512	0.122000	0.22280	0.983000	0.44433	0.988000	0.76386	0.970000	0.29383	0.181000	0.19994	0.557000	0.71058	CGA		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		166	749	0	0	0	1	0	166	749					A	167085266	G	A	167085266	4	1	79	1	0	0	0	0	0	1	0	0	13975	1095	38	1	1849	1	SCN9A	2	167085266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176950	167085266	76114107	3054	13371											
SCN9A	6335	broad.mit.edu	37	chr2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagataggaactacaacGccttttcttgtgtatttgat	9	6	1	2	rs200174262	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000409435.1	-	12	2004	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	669					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTACAACGCCTTTTCTTG	0.358													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17153	0.0		0.0	False		,,,				2504	0.0					ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2008-2010)Cgt>Tgt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G	CYS/ARG	5,3729		0,5,1862	162	155	157		1972	2.7	0.8	2		157	0,8228		0,0,4114	no	missense	SCN9A	NM_002977.3	180	0,5,5976	AA,AG,GG		0.0,0.1339,0.0418	possibly-damaging	658/1978	167138288	5,11957	1867	4114	5981	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167138288G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2005C>T	2.37:g.167138288G>A	ENSP00000386330:p.Arg669Cys					SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R669C	p.R670C			Q15858	SCN9A_HUMAN			13	2348	-			669					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2008C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060097	0.19987	0.001339	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96522	-2.86;-2.86;-2.86;-2.86;-4.04;-2.86	5.71	2.73	0.32206	Domain of unknown function DUF3451 (1);	0.310145	0.27744	N	0.018033	D	0.95037	0.8393	M	0.85710	2.77	0.43417	D	0.995564	B;B;B	0.15719	0.006;0.014;0.001	B;B;B	0.19666	0.016;0.026;0.011	D	0.92168	0.5741	10	0.62326	D	0.03	.	5.7959	0.18387	0.0675:0.1193:0.5719:0.2413	.	658;669;670	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	658;670;670;669;523;534	ENSP00000386306:R658C;ENSP00000364536:R670C;ENSP00000304748:R670C;ENSP00000386330:R669C;ENSP00000413212:R523C;ENSP00000393141:R534C	ENSP00000304748:R670C	R	-	1	0	SCN9A	166846534	0.000000	0.05858	0.797000	0.32132	0.058000	0.15608	0.210000	0.17455	0.854000	0.35336	0.650000	0.86243	CGT		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	375	0	0	0	1	0	28	375					A	167138288	G	A	167138288	3	1	79	1	0	0	0	0	1	0	0	0	13975	1087	38	1	4021	1	SCN9A	2	167138288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53022	167138288	76061085	3055	13372											
SCN9A	6335	broad.mit.edu	37	chr2	167145116	167145116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaatcactacgacaAagaagatcatgtaggttttg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000409435.1	-	9	1144	c.1145T>C	c.(1144-1146)tTt>tCt	p.F382S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	382					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTACGACAAAGAAGATCAT	0.368																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1147-1149)tTt>tCt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						72	69	70					2																	167145116		1833	4110	5943	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167145116A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1145T>C	2.37:g.167145116A>G	ENSP00000386330:p.Phe382Ser					SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F382S	p.F383S			Q15858	SCN9A_HUMAN			10	1488	-			382					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1148T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945236	0.92593	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99654	0.9872	H	0.99169	4.455	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	0.97294	0.9926	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	382;382;383	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	382;383;383;382;247;247	ENSP00000386306:F382S;ENSP00000364536:F383S;ENSP00000304748:F383S;ENSP00000386330:F382S;ENSP00000413212:F247S;ENSP00000393141:F247S	ENSP00000304748:F383S	F	-	2	0	SCN9A	166853362	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.261000	0.95576	2.237000	0.73441	0.528000	0.53228	TTT		0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	257	0	0	0	1	0	7	257					G	167145116	A	G	167145116	3	3	79	1	0	0	0	0	1	0	0	0	13975	14	1	4	4860	4	SCN9A	2	167145116	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6828	167145116	76054257	3056	13373											
SCN9A	6335	broad.mit.edu	37	chr2	167163471	167163471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaaaggatatgagtgTactaaaatcttaatagatat	6	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000409435.1	-	2	371	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000375387.4_Silent_p.V124V|SCN9A_ENST00000409672.1_Silent_p.V124V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	124					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATATGAGTGTACTAAAATCT	0.313																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(370-372)gtA>gtG		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						50	48	49					2																	167163471		1809	4072	5881	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167163471T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.372A>G	2.37:g.167163471T>C						SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000409435.1_Silent_p.V124V	p.V124V			Q15858	SCN9A_HUMAN			3	712	-			124					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.372A>G	CCDS46441.1																																																																																				0.313	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		29	66	0	0	0	1	0	29	66					C	167163471	T	C	167163471	2	2	79	1	0	0	0	0	0	0	0	1	13975	1625	57	4		4	SCN9A	2	167163471	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18355	167163471	76035902	3057	13374											
SCN7A	6332	broad.mit.edu	37	chr2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttcgtttcaaagtagtcGtaattggctcacatgtgatc	9	7	2	1	rs374349539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1617					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAAAGTAGTCGTAATTGGCTC	0.378																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4849-4851)aCg>aTg		sodium channel, voltage-gated, type VII, alpha subunit		G	MET/THR	0,3752		0,0,1876	152	146	148		4850	4	1	2		148	1,8211		0,1,4105	no	missense	SCN7A	NM_002976.3	81	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1617/1683	167262289	1,11963	1876	4106	5982	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262289G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4850C>T	2.37:g.167262289G>A	ENSP00000386796:p.Thr1617Met						p.T1617M	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4976	-			1617						Missense_Mutation	SNP	ENST00000409855.1	37	c.4850C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284154	0.59867	0.0	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97066	-4.23	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000025	D	0.98118	0.9379	M	0.78049	2.395	0.38018	D	0.934745	D	0.89917	1.0	D	0.85130	0.997	D	0.99880	1.1112	10	0.87932	D	0	.	14.3194	0.66476	0.0:0.0:1.0:0.0	.	1617	Q01118	SCN7A_HUMAN	M	1617	ENSP00000386796:T1617M	ENSP00000259060:T1617M	T	-	2	0	SCN7A	166970535	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.518000	0.60510	2.514000	0.84764	0.655000	0.94253	ACG		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			33	741	0	0	0	1	0	33	741					A	167262289	G	A	167262289	3	1	79	1	0	0	0	0	1	0	0	0	13973	1145	40	1	202	1	SCN7A	2	167262289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98818	167262289	75937084	3058	13375											
SCN7A	6332	broad.mit.edu	37	chr2	167262858	167262858	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatattgcaacttgaaaAagacagagcatactgttgcc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAACTTGAAAAAGACAGAGCA	0.363																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4279-4281)ctT>ctG		sodium channel, voltage-gated, type VII, alpha subunit							182	174	177					2																	167262858		1891	4141	6032	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262858A>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4281T>G	2.37:g.167262858A>C							p.L1427L	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4407	-			1427						Silent	SNP	ENST00000409855.1	37	c.4281T>G	CCDS46442.1																																																																																				0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			130	726	0	0	0	1	0	130	726					C	167262858	A	C	167262858	2	2	79	1	0	0	0	0	0	0	0	1	13973	1	1	4		4	SCN7A	2	167262858	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	569	167262858	75936515	3059	13376											
SCN7A	6332	broad.mit.edu	37	chr2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttctatatcagattctCctgaagcaattggtacagtt	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	841					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATCAGATTCTCCTGAAGCAAT	0.398																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2521-2523)gGa>gAa		sodium channel, voltage-gated, type VII, alpha subunit							119	117	118					2																	167288898		1903	4102	6005	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167288898C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2522G>A	2.37:g.167288898C>T	ENSP00000386796:p.Gly841Glu						p.G841E	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			15	2648	-			841						Missense_Mutation	SNP	ENST00000409855.1	37	c.2522G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897290	0.33535	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.05	3.13	0.36017	Sodium ion transport-associated (1);	0.249150	0.28624	N	0.014686	T	0.78916	0.4359	L	0.49350	1.555	0.37374	D	0.911766	B	0.24258	0.1	B	0.26202	0.067	T	0.75841	-0.3175	10	0.35671	T	0.21	.	7.6994	0.28613	0.0:0.7388:0.1651:0.0961	.	841	Q01118	SCN7A_HUMAN	E	841	ENSP00000386796:G841E;ENSP00000413699:G841E	ENSP00000259060:G841E	G	-	2	0	SCN7A	166997144	0.071000	0.21146	1.000000	0.80357	0.946000	0.59487	0.996000	0.29719	1.328000	0.45358	0.561000	0.74099	GGA		0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			114	452	0	0	0	1	0	114	452					T	167288898	C	T	167288898	3	4	79	1	0	0	0	0	1	0	0	0	13973	855	30	2	2570	2	SCN7A	2	167288898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26040	167288898	75910475	3060	13377											
SCN7A	6332	broad.mit.edu	37	chr2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagttccatggatcacCgaggaaggaaaatgatcctg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	177					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATGGATCACCGAGGAAGGAA	0.353																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(529-531)Ggt>Agt		sodium channel, voltage-gated, type VII, alpha subunit							49	49	49					2																	167328870		1890	4152	6042	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328870C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.529G>A	2.37:g.167328870C>T	ENSP00000386796:p.Gly177Ser						p.G177S	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			5	655	-			177						Missense_Mutation	SNP	ENST00000409855.1	37	c.529G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112005	0.77210	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98381	-4.9;-4.9;-4.9	5.37	3.45	0.39498	Ion transport (1);	0.220210	0.32401	N	0.006150	D	0.97025	0.9028	M	0.69823	2.125	0.35514	D	0.800912	D	0.56968	0.978	P	0.47251	0.542	D	0.97354	0.9965	10	0.87932	D	0	.	7.4811	0.27406	0.0:0.5845:0.3221:0.0934	.	177	Q01118	SCN7A_HUMAN	S	177	ENSP00000386796:G177S;ENSP00000413699:G177S;ENSP00000403846:G177S	ENSP00000259060:G177S	G	-	1	0	SCN7A	167037116	0.839000	0.29477	1.000000	0.80357	0.906000	0.53458	1.406000	0.34646	2.675000	0.91044	0.655000	0.94253	GGT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			10	68	0	0	0	1	0	10	68					T	167328870	C	T	167328870	3	4	79	1	0	0	0	0	1	0	0	0	13973	652	23	1	4603	1	SCN7A	2	167328870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39972	167328870	75870503	3061	13378											
XIRP2	129446	broad.mit.edu	37	chr2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattccctgagcagtcggCgcaggattgaacgcttttcc	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409728.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000409195.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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.R105C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCAGTCGGCGCAGGATTGA	0.512																																						ENST00000409195.1																			2	Substitution - Missense(2)	p.R105C(2)	large_intestine(2)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(313-315)Cgc>Tgc		xin actin-binding repeat containing 2							114	116	115					2																	167760305		2024	4159	6183	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760305C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.313C>T	2.37:g.167760305C>T	ENSP00000386619:p.Arg105Cys					XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C	p.R105C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	402	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.313C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511643	0.27036	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82344	-1.58;-1.6;3.79;-1.58;-1.6;3.79	5.12	4.23	0.50019	.	.	.	.	.	T	0.75102	0.3804	.	.	.	0.40273	D	0.978316	P;P	0.46395	0.877;0.877	B;B	0.38562	0.276;0.276	T	0.78661	-0.2117	8	0.87932	D	0	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	C	105	ENSP00000386454:R105C;ENSP00000386619:R105C;ENSP00000386840:R105C;ENSP00000386724:R105C;ENSP00000415541:R105C;ENSP00000295237:R105C	ENSP00000295237:R105C	R	+	1	0	XIRP2	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		64	307	0	0	0	1	0	64	307					T	167760305	C	T	167760305	3	4	79	1	0	0	0	0	1	0	0	0	17484	768	27	1	315	1	XIRP2	2	167760305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431435	167760305	75439068	3062	13379											
XIRP2	129446	broad.mit.edu	37	chr2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattacacacatatctttgAatcaaacaatttaattaaat	2	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	778					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)				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						CATATCTTTGAATCAAACAAT	0.343																																						ENST00000409195.1																			0				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						c.(2857-2859)gAa>gCa		xin actin-binding repeat containing 2							48	46	46					2																	168100760		1843	4084	5927	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100760A>C	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.2858A>C	2.37:g.168100760A>C	ENSP00000386840:p.Glu953Ala					XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.E953A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2947	+			778					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2858A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373911	0.61624	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.15139	2.49;2.49;2.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.43212	-0.9405	10	0.72032	D	0.01	-24.7473	16.3053	0.82846	1.0:0.0:0.0:0.0	.	778;778;731	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	953;953;731	ENSP00000386840:E953A;ENSP00000295237:E953A;ENSP00000387255:E731A	ENSP00000295237:E953A	E	+	2	0	XIRP2	167809006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAA		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		40	252	0	0	0	1	0	40	252					C	168100760	A	C	168100760	3	2	79	1	0	0	0	0	1	0	0	0	17484	246	9	4	2888	4	XIRP2	2	168100760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340455	168100760	75098613	3063	13380											
XIRP2	129446	broad.mit.edu	37	chr2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaatctgtcacacaagaaGacattcagaagggagatgtt	9	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1203					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)				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						CACACAAGAAGACATTCAGAA	0.363																																						ENST00000409195.1																			0				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						c.(4132-4134)Gac>Tac		xin actin-binding repeat containing 2							70	65	66					2																	168102034		1841	4087	5928	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102034G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4132G>T	2.37:g.168102034G>T	ENSP00000386840:p.Asp1378Tyr					XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4221	+			1203					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4132G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816694	0.90790	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06608	3.29;3.29;3.28	5.78	5.78	0.91487	.	0.105878	0.64402	D	0.000006	T	0.30103	0.0754	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00984	-1.1491	10	0.87932	D	0	-17.2332	19.6068	0.95584	0.0:0.0:1.0:0.0	.	1203;1203;1156	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1378;1378;1156	ENSP00000386840:D1378Y;ENSP00000295237:D1378Y;ENSP00000387255:D1156Y	ENSP00000295237:D1378Y	D	+	1	0	XIRP2	167810280	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.652000	0.83633	2.744000	0.94065	0.563000	0.77884	GAC		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		61	323	1	0	1.82294e-38	1	2.19748e-38	61	323					T	168102034	G	T	168102034	3	4	79	1	0	0	0	0	1	0	0	0	17484	942	33	3	4162	3	XIRP2	2	168102034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	168102034	75097339	3064	13381											
XIRP2	129446	broad.mit.edu	37	chr2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattattggcaagagcattaAagaaaccttagaagatctct	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1378					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)				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						AAGAGCATTAAAGAAACCTTA	0.358																																						ENST00000409195.1																			0				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						c.(4657-4659)aAa>aCa		xin actin-binding repeat containing 2							54	51	52					2																	168102560		1810	4077	5887	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102560A>C	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.4658A>C	2.37:g.168102560A>C	ENSP00000386840:p.Lys1553Thr					XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4747	+			1378					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4658A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868527	0.51588	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.56	5.56	0.83823	.	0.051031	0.85682	D	0.000000	T	0.14743	0.0356	L	0.56769	1.78	0.48040	D	0.999574	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.963;0.983;0.99	T	0.00409	-1.1757	10	0.48119	T	0.1	-27.2337	14.6939	0.69107	1.0:0.0:0.0:0.0	.	1378;1378;1331	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1553;1553;1331	ENSP00000386840:K1553T;ENSP00000295237:K1553T;ENSP00000387255:K1331T	ENSP00000295237:K1553T	K	+	2	0	XIRP2	167810806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.966000	0.63715	2.122000	0.65172	0.460000	0.39030	AAA		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		94	301	0	0	0	1	0	94	301					C	168102560	A	C	168102560	3	2	79	1	0	0	0	0	1	0	0	0	17484	14	1	4	4688	4	XIRP2	2	168102560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526	168102560	75096813	3065	13382											
XIRP2	129446	broad.mit.edu	37	chr2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctggagctttggattatCtgaaacaactccacacagag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					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)				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						TTTGGATTATCTGAAACAACT	0.373																																						ENST00000409195.1																			0				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						c.(5272-5274)Ctg>Atg		xin actin-binding repeat containing 2							89	84	85					2																	168103174		1867	4101	5968	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103174C>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.5272C>A	2.37:g.168103174C>A	ENSP00000386840:p.Leu1758Met					XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.L1758M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5361	+			1583					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5272C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845636	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11385	2.8;2.8;2.78	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.983	T	0.06661	-1.0814	10	0.66056	D	0.02	-7.2269	18.3299	0.90264	0.0:1.0:0.0:0.0	.	1583;1583;1536	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	1758;1758;1536	ENSP00000386840:L1758M;ENSP00000295237:L1758M;ENSP00000387255:L1536M	ENSP00000295237:L1758M	L	+	1	2	XIRP2	167811420	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.764000	0.68826	2.633000	0.89246	0.637000	0.83480	CTG		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		94	266	1	0	4.7146e-34	1	5.60093e-34	94	266					A	168103174	C	A	168103174	3	1	79	1	0	0	0	0	1	0	0	0	17484	912	32	3	5302	3	XIRP2	2	168103174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	614	168103174	75096199	3066	13383											
XIRP2	129446	broad.mit.edu	37	chr2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcactgtaaagattgtcataGatcgtgaacaaaacaatgat	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1856					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)				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						GATTGTCATAGATCGTGAACA	0.388																																						ENST00000409195.1																			0				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						c.(6091-6093)Gat>Tat		xin actin-binding repeat containing 2							65	60	62					2																	168103993		1847	4090	5937	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103993G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6091G>T	2.37:g.168103993G>T	ENSP00000386840:p.Asp2031Tyr					XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.D2031Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6180	+			1856					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6091G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165017	0.38217	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.85	0.62838	.	0.574989	0.19405	N	0.115071	T	0.43678	0.1258	M	0.63428	1.95	0.37711	D	0.924572	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69479	0.921;0.964;0.964	T	0.49818	-0.8899	10	0.72032	D	0.01	-17.3679	7.9073	0.29769	0.2391:0.0:0.7609:0.0	.	1856;1856;1809	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2031;2031;1809	ENSP00000386840:D2031Y;ENSP00000295237:D2031Y;ENSP00000387255:D1809Y	ENSP00000295237:D2031Y	D	+	1	0	XIRP2	167812239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.304000	0.43655	1.441000	0.47550	-0.145000	0.13849	GAT		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		72	249	1	0	9.25274e-37	1	1.1089e-36	72	249					T	168103993	G	T	168103993	3	4	79	1	0	0	0	0	1	0	0	0	17484	942	33	3	6121	3	XIRP2	2	168103993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	819	168103993	75095380	3067	13384											
XIRP2	129446	broad.mit.edu	37	chr2	168106134	168106135	+	Frame_Shift_Ins	INS	-	-	A													ttgatgttcaaacctttaccINSaaaaaacaatatctgaaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168106134_168106135insA	ENST00000409195.1	+	9	8321_8322	c.8232_8233insA	c.(8233-8235)aaafs	p.K2745fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2523fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2745fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2570					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)				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						AAACCTTTACCAAAAAACAATA	0.347																																						ENST00000409195.1																			0				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						c.(8230-8235)acaaaafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106134_168106135insA	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.8238dupA	2.37:g.168106140_168106140dupA	ENSP00000386840:p.Lys2745fs					XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TK2522fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TK2744fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.TK2744fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8321_8322	+			2569					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.8232_8233insA	CCDS42769.1																																																																																				0.347	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		91	274						91	274	---	---	---	---	A	168106135	-	A	168106134	7	5	79	1	0	1	1	0	0	0	0	0	17484	581	21	0	8262	0	XIRP2	2	168106134	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2141	168106134	75093239	3068	13385											
XIRP2	129446	broad.mit.edu	37	chr2	168107754	168107754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccactgatcacatggtGcccgacactgaaagttatga	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3109					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)				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						ATCACATGGTGCCCGACACTG	0.473																																						ENST00000409195.1																			0				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						c.(9850-9852)gtG>gtA		xin actin-binding repeat containing 2							94	94	94					2																	168107754		2019	4176	6195	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107754G>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.9852G>A	2.37:g.168107754G>A						XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9941	+			3109					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.9852G>A	CCDS42769.1																																																																																				0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		175	468	0	0	0	1	0	175	468					A	168107754	G	A	168107754	2	1	79	1	0	0	0	0	0	0	0	1	17484	1306	46	2		2	XIRP2	2	168107754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1620	168107754	75091619	3069	13386											
XIRP2	129446	broad.mit.edu	37	chr2	168108246	168108246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaagctggcaaatctggCtgtgacttcaagcatgcccc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G3448G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3273					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)				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						GCAAATCTGGCTGTGACTTCA	0.388																																						ENST00000409195.1																			0				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						c.(10342-10344)ggC>ggT		xin actin-binding repeat containing 2							61	61	61					2																	168108246		1917	4138	6055	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108246C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10344C>T	2.37:g.168108246C>T						XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.G3448G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10433	+			3273					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.10344C>T	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		71	236	0	0	0	1	0	71	236					T	168108246	C	T	168108246	2	4	79	1	0	0	0	0	0	0	0	1	17484	784	28	2		2	XIRP2	2	168108246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	168108246	75091127	3070	13387											
XIRP2	129446	broad.mit.edu	37	chr2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatctggctgtgacttcaAgcatgccccaccaacctatg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3277					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)				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						TGTGACTTCAAGCATGCCCCA	0.403																																						ENST00000409195.1																			0				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						c.(10354-10356)aAg>aCg		xin actin-binding repeat containing 2							60	61	60					2																	168108257		1914	4139	6053	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108257A>C	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.10355A>C	2.37:g.168108257A>C	ENSP00000386840:p.Lys3452Thr					XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10444	+			3277					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10355A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114071	0.77210	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	6.16	6.16	0.99307	.	0.184931	0.49916	D	0.000125	T	0.18087	0.0434	M	0.71581	2.175	0.49213	D	0.999768	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.964	T	0.00035	-1.2259	10	0.72032	D	0.01	-20.7223	15.7887	0.78332	1.0:0.0:0.0:0.0	.	3277;3277;3230	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3452;3452;3230;866	ENSP00000386840:K3452T;ENSP00000295237:K3452T;ENSP00000387255:K3230T	ENSP00000295237:K3452T	K	+	2	0	XIRP2	167816503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.501000	0.45389	2.367000	0.80283	0.528000	0.53228	AAG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		65	251	0	0	0	1	0	65	251					C	168108257	A	C	168108257	3	2	79	1	0	0	0	0	1	0	0	0	17484	72	3	4	10385	4	XIRP2	2	168108257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	168108257	75091116	3071	13388											
SPC25	57405	broad.mit.edu	37	chr2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attagtgaaaataaactgcaAtttctcacctgaaaagagat	6	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	154	Interaction with the C-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353																																						ENST00000282074.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(460-462)Ttg>Gtg		SPC25, NDC80 kinetochore complex component							89	98	95					2																	169730185		2203	4298	6501	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169730185A>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.460T>G	2.37:g.169730185A>C	ENSP00000282074:p.Leu154Val						p.L154V	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN			6	601	-			154			Interaction with the C-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.460T>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699704	0.68501	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.85	0.289	0.15723	.	0.000000	0.64402	D	0.000001	T	0.67107	0.2858	M	0.62154	1.92	0.51767	D	0.99993	D	0.76494	0.999	D	0.77004	0.989	T	0.63980	-0.6514	9	0.49607	T	0.09	-11.3603	8.7529	0.34629	0.5829:0.0:0.4171:0.0	.	154	Q9HBM1	SPC25_HUMAN	V	154	.	ENSP00000282074:L154V	L	-	1	2	SPC25	169438431	0.869000	0.29996	0.997000	0.53966	0.981000	0.71138	0.940000	0.28992	0.124000	0.18369	0.402000	0.26972	TTG		0.353	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		102	313	0	0	0	1	0	102	313					C	169730185	A	C	169730185	3	2	79	1	0	0	0	0	1	0	0	0	15074	98	4	4	222	4	SPC25	2	169730185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1621928	169730185	73469188	3072	13389											
G6PC2	57818	broad.mit.edu	37	chr2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttgcagaaggactaccGagcttactacacttttctaa	7	10	1	1	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	20					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(58-60)cGa>cAa		glucose-6-phosphatase, catalytic, 2		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136	136	136		59,59	2.9	0.9	2	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	20/155,20/356	169757900	1,13005	2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169757900G>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.59G>A	2.37:g.169757900G>A	ENSP00000364512:p.Arg20Gln					SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			1	151	+			20					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.59G>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949068	0.02304	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82344	-0.88;-0.88;-1.6	5.62	2.87	0.33458	.	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.46442	-0.9191	9	0.09338	T	0.73	-6.0633	7.1564	0.25639	0.1678:0.0:0.7092:0.123	.	20;20	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	Q	20	ENSP00000364512:R20Q;ENSP00000396939:R20Q;ENSP00000392183:R20Q	ENSP00000282075:R20Q	R	+	2	0	G6PC2	169466146	0.992000	0.36948	0.861000	0.33841	0.704000	0.40688	1.761000	0.38440	0.323000	0.23307	-0.782000	0.03352	CGA		0.358	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		129	446	0	0	0	1	0	129	446					A	169757900	G	A	169757900	3	1	79	1	0	0	0	0	1	0	0	0	6171	1058	37	1	61	1	G6PC2	2	169757900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27715	169757900	73441473	3073	13390											
ABCB11	8647	broad.mit.edu	37	chr2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcaatgatcatggccAcagtgacgttagtgaaggaa	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	888	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATCATGGCCACAGTGACGTT	0.502																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2662-2664)gTg>gCg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						136	133	134					2																	169792891		2046	4201	6247	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169792891A>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2663T>C	2.37:g.169792891A>G	ENSP00000263817:p.Val888Ala						p.V888A	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			22	2787	-			888			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2663T>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217062	0.39201	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.52	5.52	0.82312	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	T	0.76681	0.4021	N	0.04297	-0.235	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.20955	0.032;0.032	T	0.72171	-0.4371	10	0.12430	T	0.62	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	330;888	B4DZQ8;O95342	.;ABCBB_HUMAN	A	888	ENSP00000263817:V888A	ENSP00000263817:V888A	V	-	2	0	ABCB11	169501137	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.734000	0.47368	2.096000	0.63516	0.459000	0.35465	GTG		0.502	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		97	299	0	0	0	1	0	97	299					G	169792891	A	G	169792891	3	3	79	1	0	0	0	0	1	0	0	0	42	159	6	4	1330	4	ABCB11	2	169792891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34991	169792891	73406482	3074	13391											
ABCB11	8647	broad.mit.edu	37	chr2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggtgttattcacacAtgcttttcctggaatctgga	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	107	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTATTCACACATGCTTTTCCT	0.393																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(319-321)Tgt>Cgt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						246	234	238					2																	169869852		1896	4136	6032	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169869852A>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.319T>C	2.37:g.169869852A>G	ENSP00000263817:p.Cys107Arg						p.C107R	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			5	443	-			107			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.319T>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398189	0.62177	.	.	ENSG00000073734	ENST00000263817	D	0.86366	-2.11	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089899	0.85682	D	0.000000	D	0.89581	0.6756	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.88189	0.2876	10	0.30078	T	0.28	-13.8408	15.4475	0.75243	1.0:0.0:0.0:0.0	.	107	O95342	ABCBB_HUMAN	R	107	ENSP00000263817:C107R	ENSP00000263817:C107R	C	-	1	0	ABCB11	169578098	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	8.305000	0.89960	2.043000	0.60533	0.454000	0.30748	TGT		0.393	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		270	861	0	0	0	1	0	270	861					G	169869852	A	G	169869852	3	3	79	1	0	0	0	0	1	0	0	0	42	217	8	4	3742	4	ABCB11	2	169869852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76961	169869852	73329521	3075	13392											
LRP2	4036	broad.mit.edu	37	chr2	170027155	170027155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgacacatcgaaactcGctctctgtgcactcccgggg	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3762	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCGAAACTCGCTCTCTGTGC	0.527																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11284-11286)agC>agT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						142	118	126					2																	170027155		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170027155G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11286C>T	2.37:g.170027155G>A							p.S3762S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11571	-			3762			LDL-receptor class A 32.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11286C>T	CCDS2232.1																																																																																				0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		141	368	0	0	0	1	0	141	368					A	170027155	G	A	170027155	2	1	79	1	0	0	0	0	0	0	0	1	8994	1078	38	1		1	LRP2	2	170027155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157303	170027155	73172218	3076	13393											
LRP2	4036	broad.mit.edu	37	chr2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctactctcccaatgtatgCgcggtgaccccagtctgccc	9	17	2	1	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCAATGTATGCGCGGTGACCC	0.483													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18886	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10030-10032)Gca>Aca		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	THR/ALA	23,4383	29.9+/-59.1	0,23,2180	151	123	132		10030	4.8	0.8	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	58	0,24,6479	TT,TC,CC		0.0116,0.522,0.1845	probably-damaging	3344/4656	170038097	24,12982	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038097C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10030G>A	2.37:g.170038097C>T	ENSP00000263816:p.Ala3344Thr					LRP2_ENST00000461418.1_5'UTR	p.A3344T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	52	10315	-			3344					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10030G>A	CCDS2232.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	LRP2	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		73	211	0	0	0	1	0	73	211					T	170038097	C	T	170038097	3	4	79	1	0	0	0	0	1	0	0	0	8994	768	27	1	4049	1	LRP2	2	170038097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10942	170038097	73161276	3077	13394											
LRP2	4036	broad.mit.edu	37	chr2	170058137	170058137	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacttaagataaacttaCggcaatttttctcatctgaa	5	8	2	2	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GATAAACTTACGGCAATTTTT	0.338																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315	GRCh37	CS073498	LRP2	S	rs80338748	c.e44+1		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						105	104	104					2																	170058137		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058137C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8452+1G>A	2.37:g.170058137C>T								NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8738	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37		CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242369	0.95272	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169766383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.701000	0.84566	2.794000	0.96219	0.650000	0.86243	.		0.338	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	24	303	0	0	0	1	0	24	303					T	170058137	C	T	170058137	5	4	79	1	0	0	0	0	0	0	1	0	8994	550	19	1	5658	1	LRP2	2	170058137	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20040	170058137	73141236	3078	13395											
BBS5	129880	broad.mit.edu	37	chr2	170349386	170349386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgttctttttcatagagCttatgaaacttctaaaatgt	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170349386C>T	ENST00000295240.3	+	6	765	c.389C>T	c.(388-390)gCt>gTt	p.A130V	BBS5_ENST00000392663.2_Missense_Mutation_p.A130V|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000554017.1_Missense_Mutation_p.A130V	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	130					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTCATAGAGCTTATGAAACT	0.279									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(388-390)gCt>gTt		Bardet-Biedl syndrome 5							54	53	53					2																	170349386		2202	4297	6499	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170349386C>T	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.389C>T	2.37:g.170349386C>T	ENSP00000295240:p.Ala130Val					RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000554017.1_Missense_Mutation_p.A130V|BBS5_ENST00000392663.2_Missense_Mutation_p.A130V	p.A130V	NM_152384.2	NP_689597.1					6	765	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.389C>T	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322213	0.60634	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.81914	0.995;0.942;0.966	D	0.88762	0.3258	10	0.41790	T	0.15	-18.0119	14.7904	0.69837	0.0:0.9305:0.0:0.0695	.	130;130;130	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	V	130	ENSP00000295240:A130V;ENSP00000452313:A130V;ENSP00000376431:A130V;ENSP00000424363:A130V	ENSP00000295240:A130V	A	+	2	0	BBS5;RP11-724O16.1	170057632	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	6.072000	0.71238	1.391000	0.46566	-0.203000	0.12734	GCT		0.279	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		24	114	0	0	0	1	0	24	114					T	170349386	C	T	170349386	3	4	79	1	0	0	0	0	1	0	0	0	1341	797	28	2	411	2	BBS5	2	170349386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291249	170349386	72849987	3079	13396											
BBS5	129880	broad.mit.edu	37	chr2	170359670	170359670	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaatagactctgatggTcacacggatgcttttgtggt	12	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170359670T>G	ENST00000295240.3	+	10	1258	c.882T>G	c.(880-882)ggT>ggG	p.G294G	BBS5_ENST00000392663.2_Silent_p.G273G|RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000554017.1_Silent_p.G294G	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	294					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTGATGGTCACACGGATG	0.393									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(880-882)ggT>ggG		Bardet-Biedl syndrome 5							90	85	87					2																	170359670		2203	4300	6503	SO:0001819	synonymous_variant	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170359670T>G	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.882T>G	2.37:g.170359670T>G						RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000554017.1_Silent_p.G294G|BBS5_ENST00000392663.2_Silent_p.G273G	p.G294G	NM_152384.2	NP_689597.1					10	1258	+								D3DPC3|Q6PKN0	Silent	SNP	ENST00000295240.3	37	c.882T>G	CCDS2233.1																																																																																				0.393	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		14	136	0	0	0	1	0	14	136					G	170359670	T	G	170359670	2	3	79	1	0	0	0	0	0	0	0	1	1341	1654	58	4		4	BBS5	2	170359670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10284	170359670	72839703	3080	13397											
KBTBD10	10324	broad.mit.edu	37	chr2	170366805	170366805	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggaagaggactttatgCaactgtctccacaggaactg	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170366805C>T	ENST00000284669.1	+	1	594	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	173	BACK.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GGACTTTATGCAACTGTCTCC	0.428																																						ENST00000284669.1																			0											c.(517-519)Caa>Taa		kelch-like family member 41							148	157	154					2																	170366805		2203	4300	6503	SO:0001587	stop_gained	10324							g.chr2:170366805C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.517C>T	2.37:g.170366805C>T	ENSP00000284669:p.Gln173*					RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.Q173*	NM_006063.2	NP_006054.2					1	594	+								Q53R42	Nonsense_Mutation	SNP	ENST00000284669.1	37	c.517C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122010	0.94429	.	.	ENSG00000239474	ENST00000284669	.	.	.	4.88	4.88	0.63580	.	0.051860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000284669:Q173X	Q	+	1	0	KBTBD10	170075051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.771000	0.62318	2.416000	0.81992	0.591000	0.81541	CAA		0.428	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		35	1048	0	0	0	1	0	35	1048					T	170366805	C	T	170366805	4	4	79	1	0	0	0	0	0	1	0	0	8020	711	25	2	519	2	KBTBD10	2	170366805	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7135	170366805	72832568	3081	13398											
FASTKD1	79675	broad.mit.edu	37	chr2	170428255	170428255	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtaagaaattgaggAtggtctctgacatactcagc	11	6	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170428255A>G	ENST00000453153.2	-	2	631	c.285T>C	c.(283-285)caT>caC	p.H95H	FASTKD1_ENST00000453929.2_Silent_p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	95					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAATTGAGGATGGTCTCTGA	0.353																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(283-285)caT>caC		FAST kinase domains 1							78	74	75					2																	170428255		2203	4300	6503	SO:0001819	synonymous_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428255A>G	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.285T>C	2.37:g.170428255A>G						FASTKD1_ENST00000453929.2_Silent_p.H95H	p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	631	-			95					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	c.285T>C	CCDS33318.1																																																																																				0.353	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		6	269	0	0	0	1	0	6	269					G	170428255	A	G	170428255	2	3	79	1	0	0	0	0	0	0	0	1	5710	330	12	4		4	FASTKD1	2	170428255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61450	170428255	72771118	3082	13399											
PPIG	9360	broad.mit.edu	37	chr2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacagaaaccaagagagtaAgagctcacacagaaaagaaa	8	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1948-1950)aAg>aGg		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						69	72	71					2																	170493717		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493717A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1949A>G	2.37:g.170493717A>G	ENSP00000260970:p.Lys650Arg					PPIG_ENST00000448752.2_Missense_Mutation_p.K650R|PPIG_ENST00000409714.3_Missense_Mutation_p.K635R	p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2169	+			650					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1949A>G	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512835	0.12944	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16196	2.36;2.36;2.36	5.51	1.83	0.25207	.	0.288558	0.31963	N	0.006783	T	0.09069	0.0224	N	0.14661	0.345	0.30690	N	0.751441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-6.7652	8.7238	0.34456	0.6299:0.0:0.3701:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	R	650;635;650	ENSP00000260970:K650R;ENSP00000386245:K635R;ENSP00000407083:K650R	ENSP00000260970:K650R	K	+	2	0	PPIG	170201963	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	1.112000	0.31172	0.070000	0.16634	0.482000	0.46254	AAG		0.388	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			37	166	0	0	0	1	0	37	166					G	170493717	A	G	170493717	3	3	79	1	0	0	0	0	1	0	0	0	12371	72	3	4	1995	4	PPIG	2	170493717	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65462	170493717	72705656	3083	13400											
PPIG	9360	broad.mit.edu	37	chr2	170493763	170493763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgagaaaagaatgtaCtctaaaagtcgtgatcataa	10	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	665					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1993-1995)taC>taT		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						71	75	73					2																	170493763		2202	4300	6502	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493763C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1995C>T	2.37:g.170493763C>T						PPIG_ENST00000448752.2_Silent_p.Y665Y|PPIG_ENST00000409714.3_Silent_p.Y650Y	p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2215	+			665					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1995C>T	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			77	192	0	0	0	1	0	77	192					T	170493763	C	T	170493763	2	4	79	1	0	0	0	0	0	0	0	1	12371	576	20	2		2	PPIG	2	170493763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	170493763	72705610	3084	13401											
PPIG	9360	broad.mit.edu	37	chr2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtcaggacaatgaatTaaagtcctccatgttgaaaa	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	701					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2101-2103)tTa>tCa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						39	40	40					2																	170493870		2202	4297	6499	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493870T>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2102T>C	2.37:g.170493870T>C	ENSP00000260970:p.Leu701Ser					PPIG_ENST00000448752.2_Missense_Mutation_p.L701S|PPIG_ENST00000409714.3_Missense_Mutation_p.L686S	p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2322	+			701					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2102T>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668229	0.14776	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15718	2.4;2.4;2.4	5.63	4.49	0.54785	.	0.469985	0.18759	N	0.131954	T	0.09598	0.0236	N	0.04508	-0.205	0.22610	N	0.998939	B;D;B	0.54964	0.0;0.969;0.0	B;P;B	0.50352	0.0;0.638;0.0	T	0.15178	-1.0446	10	0.23302	T	0.38	-0.3466	4.3681	0.11233	0.161:0.1378:0.0:0.7013	.	686;686;701	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	S	701;686;701	ENSP00000260970:L701S;ENSP00000386245:L686S;ENSP00000407083:L701S	ENSP00000260970:L701S	L	+	2	0	PPIG	170202116	0.997000	0.39634	0.999000	0.59377	0.788000	0.44548	1.770000	0.38532	2.152000	0.67230	0.482000	0.46254	TTA		0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			34	181	0	0	0	1	0	34	181					C	170493870	T	C	170493870	3	2	79	1	0	0	0	0	1	0	0	0	12371	1764	61	4	2148	4	PPIG	2	170493870	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107	170493870	72705503	3085	13402											
C2orf77	129881	broad.mit.edu	37	chr2	170502626	170502626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttttcagccacaagagCttcagtaagtctgcaataat	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170502626C>T	ENST00000447353.1	-	9	1489	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	462																	GCCACAAGAGCTTCAGTAAGT	0.323																																						ENST00000447353.1																			0											c.(1384-1386)Gct>Act		coiled-coil domain containing 173							220	221	221					2																	170502626		1846	4087	5933	SO:0001583	missense	129881							g.chr2:170502626C>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1384G>A	2.37:g.170502626C>T	ENSP00000391504:p.Ala462Thr						p.A462T	NM_001085447.1	NP_001078916.1					9	1489	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1384G>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	6.754	0.508052	0.12883	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.72	3.94	0.45596	.	0.700289	0.10108	U	0.715103	T	0.43853	0.1266	M	0.67953	2.075	0.09310	N	1	B	0.15930	0.015	B	0.23419	0.046	T	0.42481	-0.9449	9	0.15066	T	0.55	.	6.3099	0.21159	0.2459:0.6238:0.0:0.1303	.	462	Q0VFZ6	CB077_HUMAN	T	462	.	ENSP00000391504:A462T	A	-	1	0	C2orf77	170210872	0.009000	0.17119	0.345000	0.25642	0.932000	0.56968	-0.155000	0.10115	0.895000	0.36342	0.655000	0.94253	GCT		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		284	918	0	0	0	1	0	284	918					T	170502626	C	T	170502626	3	4	79	1	0	0	0	0	1	0	0	0	2201	797	28	2	278	2	C2orf77	2	170502626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8756	170502626	72696747	3086	13403											
C2orf77	129881	broad.mit.edu	37	chr2	170505813	170505813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaattgttctttaGcctctatttttctttgtctt	5	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170505813G>T	ENST00000447353.1	-	8	1301	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	399																	TTGTTCTTTAGCCTCTATTTT	0.343																																						ENST00000447353.1																			0											c.(1195-1197)gCt>gAt		coiled-coil domain containing 173							122	110	114					2																	170505813		1823	4096	5919	SO:0001583	missense	129881							g.chr2:170505813G>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1196C>A	2.37:g.170505813G>T	ENSP00000391504:p.Ala399Asp						p.A399D	NM_001085447.1	NP_001078916.1					8	1301	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1196C>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	1.356	-0.590148	0.03799	.	.	ENSG00000154479	ENST00000447353	T	0.08634	3.07	4.98	0.65	0.17812	.	.	.	.	.	T	0.06096	0.0158	L	0.43152	1.355	0.43527	D	0.995805	B	0.06786	0.001	B	0.10450	0.005	T	0.35773	-0.9775	9	0.15499	T	0.54	.	4.8473	0.13519	0.0756:0.2475:0.506:0.1709	.	399	Q0VFZ6	CB077_HUMAN	D	399	ENSP00000391504:A399D	ENSP00000391504:A399D	A	-	2	0	C2orf77	170214059	0.909000	0.30893	0.496000	0.27539	0.954000	0.61252	1.207000	0.32333	-0.116000	0.11893	-0.499000	0.04595	GCT		0.343	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		53	198	1	0	3.8688e-20	1	4.32843e-20	53	198					T	170505813	G	T	170505813	3	4	79	1	0	0	0	0	1	0	0	0	2201	971	34	3	470	3	C2orf77	2	170505813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3187	170505813	72693560	3087	13404											
KLHL23	151230	broad.mit.edu	37	chr2	170606212	170606212	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagtgccatgcggtcTcatgggtgtgtttgtgtgta	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1645-1647)tcT>tcA		kelch-like family member 23							215	209	211					2																	170606212		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170606212T>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1647T>A	2.37:g.170606212T>A						KLHL23_ENST00000272797.4_Silent_p.S549S|KLHL23_ENST00000602521.1_Silent_p.S56S	p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			4	1891	+			549					Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.1647T>A	CCDS2236.1																																																																																				0.378	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		56	820	0	0	0	1	0	56	820					A	170606212	T	A	170606212	2	1	79	1	0	0	0	0	0	0	0	1	8408	1538	54	5		5	KLHL23	2	170606212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100399	170606212	72593161	3088	13405											
UBR3	130507	broad.mit.edu	37	chr2	170815035	170815035	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaaactgcaatggatgtTggtaagtcaaaattattagt	10	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1211					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.e24+1		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78	84	82					2																	170815035		2203	4300	6503	SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170815035T>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3634+1T>G	2.37:g.170815035T>G						UBR3_ENST00000418381.1_Splice_Site_p.V1211_splice	p.V1211_splice			Q6ZT12	UBR3_HUMAN			24	3683	+			1211					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	37	c.3634_splice		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717807	0.48622	.	.	ENSG00000144357	ENST00000392632	.	.	.	6.04	4.86	0.63082	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62784	-0.6781	4	.	.	.	.	12.414	0.55483	0.0:0.066:0.0:0.9339	.	.	.	.	W	269	.	.	L	+	2	0	UBR3	170523281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.746000	0.47467	1.066000	0.40716	0.523000	0.50628	TTG		0.353	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	Silent	64	361	0	0	0	1	0	64	361					G	170815035	T	G	170815035	5	3	79	1	0	0	0	0	0	0	1	0	16957	1826	63	4	3727	4	UBR3	2	170815035	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208823	170815035	72384338	3089	13406											
UBR3	130507	broad.mit.edu	37	chr2	170917646	170917646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctttgtgataagtgaaCtatttaaaggaaagttatac	9	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1615					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4843-4845)Cta>Tta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							79	84	83					2																	170917646		2203	4298	6501	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917646C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4843C>T	2.37:g.170917646C>T						UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L	p.L1615L			Q6ZT12	UBR3_HUMAN			34	4893	+			1615					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.4843C>T																																																																																					0.313	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		49	355	0	0	0	1	0	49	355					T	170917646	C	T	170917646	2	4	79	1	0	0	0	0	0	0	0	1	16957	564	20	2		2	UBR3	2	170917646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102611	170917646	72281727	3090	13407											
MYO3B	140469	broad.mit.edu	37	chr2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgggggctcagtcactGagcttgtcaaaggtctactc	12	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000408978.4	+	4	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCAGTCACTGAGCTTGTCAA	0.453																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(373-375)Gag>Aag		myosin IIIB							86	84	85					2																	171070913		1967	4167	6134	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171070913G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.346G>A	2.37:g.171070913G>A	ENSP00000386213:p.Glu116Lys					MYO3B_ENST00000408978.4_Missense_Mutation_p.E116K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K	p.E125K			Q8WXR4	MYO3B_HUMAN			4	373	+			116			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.373G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713704	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155107	0.56097	D	0.000028	T	0.60196	0.2250	L	0.33093	0.98	0.58432	D	0.999998	P;P;P;P	0.39131	0.609;0.661;0.604;0.661	B;B;B;B	0.42593	0.287;0.217;0.108;0.392	T	0.64153	-0.6474	10	0.72032	D	0.01	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	116;116;116;116	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	K	116;116;115;125;125	ENSP00000386497:E116K;ENSP00000386213:E116K;ENSP00000446237:E125K;ENSP00000335100:E125K	ENSP00000314213:E115K	E	+	1	0	MYO3B	170779159	1.000000	0.71417	0.931000	0.37212	0.980000	0.70556	9.378000	0.97191	2.596000	0.87737	0.650000	0.86243	GAG		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			59	305	0	0	0	1	0	59	305					A	171070913	G	A	171070913	3	1	79	1	0	0	0	0	1	0	0	0	10118	1291	45	2	360	2	MYO3B	2	171070913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153267	171070913	72128460	3091	13408											
MYO3B	140469	broad.mit.edu	37	chr2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacaggtgtcttattaaGgattttgaaaggcgaccttc	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000408978.4	+	9	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCTTATTAAGGATTTTGAAA	0.413																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(853-855)aaG>aaT		myosin IIIB							145	130	135					2																	171225744		1839	4093	5932	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171225744G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.828G>T	2.37:g.171225744G>T	ENSP00000386213:p.Lys276Asn					MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.K276N	p.K285N			Q8WXR4	MYO3B_HUMAN			9	855	+			276			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.855G>T	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740166|3.740166	0.69304|0.69304	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.15718	.|2.4;2.4;2.4;2.4	6.06|6.06	2.85|2.85	0.33270|0.33270	.|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	.|0.45856	.|0.1363	M|M	0.89840|0.89840	3.065|3.065	0.44862|0.44862	D|D	0.997871|0.997871	.|D;D;D;D	.|0.89917	.|0.991;0.997;1.0;0.997	.|P;D;D;D	.|0.97110	.|0.86;0.942;1.0;0.914	.|T	.|0.46693	.|-0.9173	.|10	.|0.87932	.|D	.|0	.|.	10.1377|10.1377	0.42717|0.42717	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.	.|276;276;276;276	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	X|N	276|276;276;275;285;285	.|ENSP00000386497:K276N;ENSP00000386213:K276N;ENSP00000446237:K285N;ENSP00000335100:K285N	.|ENSP00000314213:K275N	G|K	+|+	1|3	0|2	MYO3B|MYO3B	170933990|170933990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.400000|2.400000	0.44504|0.44504	0.272000|0.272000	0.22027|0.22027	-0.145000|-0.145000	0.13849|0.13849	GGA|AAG		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			91	267	1	0	7.90906e-34	1	9.3893e-34	91	267					T	171225744	G	T	171225744	3	4	79	1	0	0	0	0	1	0	0	0	10118	991	35	3	862	3	MYO3B	2	171225744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154831	171225744	71973629	3092	13409											
MYO3B	140469	broad.mit.edu	37	chr2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggagttgtgatgggggcaaGaatctctgaatatctcctgg	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000408978.4	+	14	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	510	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGGGGGCAAGAATCTCTGAA	0.438																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1555-1557)aGa>aTa		myosin IIIB							86	83	84					2																	171243770		1882	4134	6016	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243770G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1529G>T	2.37:g.171243770G>T	ENSP00000386213:p.Arg510Ile					MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.R510I	p.R519I			Q8WXR4	MYO3B_HUMAN			14	1556	+			510			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1556G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875148	0.51695	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.9	4.92	0.64577	Myosin head, motor domain (2);	0.041372	0.85682	D	0.000000	D	0.83644	0.5299	L	0.37466	1.105	0.58432	D	0.999998	P;B;P	0.44380	0.801;0.108;0.834	P;B;P	0.52598	0.476;0.061;0.703	T	0.79688	-0.1699	10	0.27785	T	0.31	.	3.9069	0.09186	0.3188:0.0:0.6812:0.0	.	510;510;510	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	I	510;510;509;519;519	ENSP00000386497:R510I;ENSP00000386213:R510I;ENSP00000446237:R519I;ENSP00000335100:R519I	ENSP00000314213:R509I	R	+	2	0	MYO3B	170952016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.470000	0.66756	2.793000	0.96121	0.563000	0.77884	AGA		0.438	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			88	437	1	0	5.78178e-49	1	7.14446e-49	88	437					T	171243770	G	T	171243770	3	4	79	1	0	0	0	0	1	0	0	0	10118	942	33	3	1583	3	MYO3B	2	171243770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18026	171243770	71955603	3093	13410											
MYO3B	140469	broad.mit.edu	37	chr2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatattttactatattTatgctggtcttcatcaccaa	3	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000408978.4	+	15	1755	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	538	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTACTATATTTATGCTGGTCT	0.343																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1639-1641)Tat>Cat		myosin IIIB							32	32	32					2																	171248064		1781	4054	5835	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248064T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1612T>C	2.37:g.171248064T>C	ENSP00000386213:p.Tyr538His					MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.Y538H	p.Y547H			Q8WXR4	MYO3B_HUMAN			15	1639	+			538			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1639T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562697	0.86335	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.997;0.981;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	538;538;538	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	538;538;537;547;547	ENSP00000386497:Y538H;ENSP00000386213:Y538H;ENSP00000446237:Y547H;ENSP00000335100:Y547H	ENSP00000314213:Y537H	Y	+	1	0	MYO3B	170956310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TAT		0.343	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			7	248	0	0	0	1	0	7	248					C	171248064	T	C	171248064	3	2	79	1	0	0	0	0	1	0	0	0	10118	1754	61	4	1670	4	MYO3B	2	171248064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4294	171248064	71951309	3094	13411											
GAD1	2571	broad.mit.edu	37	chr2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaccccaataccactaacCtgcgccccacaagtaggtcc	7	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000455988.1_RNA|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	24					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TACCACTAACCTGCGCCCCAC	0.622																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(70-72)Ctg>Atg		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						69	71	70					2																	171675171		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171675171C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.70C>A	2.37:g.171675171C>A	ENSP00000350928:p.Leu24Met					GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|GAD1_ENST00000429023.1_3'UTR	p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			2	620	+			24					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.70C>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850212	0.71719	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;D;T;T;T;T;T	0.90504	-1.75;-2.68;2.23;0.35;0.35;-1.38;-1.23	5.67	5.67	0.87782	.	0.183599	0.39083	N	0.001470	D	0.93252	0.7850	L	0.51422	1.61	0.44825	D	0.997839	D;D	0.71674	0.997;0.998	D;D	0.69142	0.942;0.962	D	0.93093	0.6501	10	0.54805	T	0.06	-8.7481	14.9773	0.71283	0.0:0.9299:0.0:0.0701	.	24;24	Q99259;Q99259-3	DCE1_HUMAN;.	M	24	ENSP00000402366:L24M;ENSP00000394948:L24M;ENSP00000350928:L24M;ENSP00000364421:L24M;ENSP00000341167:L24M;ENSP00000405917:L24M;ENSP00000394255:L24M	ENSP00000341167:L24M	L	+	1	2	GAD1	171383417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.625000	0.37029	2.667000	0.90743	0.561000	0.74099	CTG		0.622	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			136	429	1	0	2.13359e-52	1	2.6535e-52	136	429					A	171675171	C	A	171675171	3	1	79	1	0	0	0	0	1	0	0	0	6206	680	24	3	72	3	GAD1	2	171675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	427107	171675171	71524202	3095	13412											
GAD1	2571	broad.mit.edu	37	chr2	171678658	171678658	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggggctcaagatctgCggtaagtgacaggacccact	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Splice_Site_p.C48C|GAD1_ENST00000375272.1_Splice_Site_p.C48C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	48					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCAAGATCTGCGGTAAGTGAC	0.657																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.e3+1		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						50	44	46					2																	171678658		2203	4300	6503	SO:0001630	splice_region_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171678658C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.145+1C>T	2.37:g.171678658C>T						GAD1_ENST00000344257.5_Splice_Site_p.C48_splice|GAD1_ENST00000375272.1_Splice_Site_p.C48_splice|GAD1_ENST00000429023.1_3'UTR	p.C48_splice	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			3	694	+			48					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Splice_Site	SNP	ENST00000358196.3	37	c.145_splice	CCDS2239.1																																																																																				0.657	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		Silent	16	97	0	0	0	1	0	16	97					T	171678658	C	T	171678658	5	4	79	1	0	0	0	0	0	0	1	0	6206	782	27	1	150	1	GAD1	2	171678658	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3487	171678658	71520715	3096	13413											
GAD1	2571	broad.mit.edu	37	chr2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgccttcaaggagaggCaatcctccaagaacctgctt	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	71					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAAGGAGAGGCAATCCTCCAA	0.542																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(211-213)Caa>Taa		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						79	85	83					2																	171686050		2203	4300	6503	SO:0001587	stop_gained	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171686050C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.211C>T	2.37:g.171686050C>T	ENSP00000350928:p.Gln71*					GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000429023.1_3'UTR	p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			4	761	+			71					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Nonsense_Mutation	SNP	ENST00000358196.3	37	c.211C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113533	0.94339	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	.	.	.	5.37	5.37	0.77165	.	0.152297	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.5418	19.1006	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341167:Q71X	Q	+	1	0	GAD1	171394296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.483000	0.83821	0.542000	0.68232	CAA		0.542	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			169	527	0	0	0	1	0	169	527					T	171686050	C	T	171686050	4	4	79	1	0	0	0	0	0	1	0	0	6206	711	25	2	221	2	GAD1	2	171686050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7392	171686050	71513323	3097	13414											
GAD1	2571	broad.mit.edu	37	chr2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctcgctacaagtacTtcccggaagttaagacaaag	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	268					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTACAAGTACTTCCCGGAAGT	0.517																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(802-804)Ttc>Ctc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						116	117	116					2																	171702066		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702066T>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.802T>C	2.37:g.171702066T>C	ENSP00000350928:p.Phe268Leu						p.F268L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			8	1352	+			268					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.802T>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634935	0.47049	.	.	ENSG00000128683	ENST00000358196	T	0.35236	1.32	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49571	1.57	0.80722	D	1	P	0.49862	0.929	P	0.50049	0.629	T	0.43442	-0.9391	10	0.66056	D	0.02	-17.3573	15.91	0.79467	0.0:0.0:0.0:1.0	.	268	Q99259	DCE1_HUMAN	L	268	ENSP00000350928:F268L	ENSP00000350928:F268L	F	+	1	0	GAD1	171410312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.141000	0.66446	0.533000	0.62120	TTC		0.517	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			86	436	0	0	0	1	0	86	436					C	171702066	T	C	171702066	3	2	79	1	0	0	0	0	1	0	0	0	6206	1609	56	4	869	4	GAD1	2	171702066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16016	171702066	71497307	3098	13415											
GAD1	2571	broad.mit.edu	37	chr2	171702238	171702238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactattccataaagaaagCtggggctgcacttggctttg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702238C>A	ENST00000358196.3	+	9	1440	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	297					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATAAAGAAAGCTGGGGCTGCA	0.428																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(889-891)gCt>gAt		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						86	86	86					2																	171702238		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702238C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.890C>A	2.37:g.171702238C>A	ENSP00000350928:p.Ala297Asp						p.A297D	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			9	1440	+			297					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.890C>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149779	0.94645	.	.	ENSG00000128683	ENST00000358196	T	0.50813	0.73	5.75	5.75	0.90469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095833	0.64402	D	0.000001	T	0.77778	0.4181	M	0.92317	3.295	0.80722	D	1	D	0.63880	0.993	D	0.78314	0.991	T	0.82392	-0.0480	10	0.72032	D	0.01	-12.1275	19.9662	0.97271	0.0:1.0:0.0:0.0	.	297	Q99259	DCE1_HUMAN	D	297	ENSP00000350928:A297D	ENSP00000350928:A297D	A	+	2	0	GAD1	171410484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.701000	0.92244	0.650000	0.86243	GCT		0.428	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			8	400	1	0	0.335167	1	0.335247	8	400					A	171702238	C	A	171702238	3	1	79	1	0	0	0	0	1	0	0	0	6206	797	28	3	961	3	GAD1	2	171702238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172	171702238	71497135	3099	13416											
GORASP2	26003	broad.mit.edu	37	chr2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcctttctttgatttTattgtttctattaatggttc	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	39	PDZ.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(115-117)ttT>ttG		golgi reassembly stacking protein 2, 55kDa							107	114	112					2																	171804913		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171804913T>G		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.117T>G	2.37:g.171804913T>G	ENSP00000234160:p.Phe39Leu					GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L|GORASP2_ENST00000493692.1_3'UTR	p.F39L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			2	932	+			39			PDZ.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.117T>G	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583517	0.86748	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.27402	1.67;1.67	5.73	5.73	0.89815	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67421	-0.5675	10	0.72032	D	0.01	-19.5199	16.3265	0.82983	0.0:0.0:0.0:1.0	.	51;39	B4DKT0;Q9H8Y8	.;GORS2_HUMAN	L	39;51	ENSP00000234160:F39L;ENSP00000410208:F51L	ENSP00000234160:F39L	F	+	3	2	GORASP2	171513159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.313000	0.78055	0.455000	0.32223	TTT		0.328	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			35	224	0	0	0	1	0	35	224					G	171804913	T	G	171804913	3	3	79	1	0	0	0	0	1	0	0	0	6605	1751	61	4	123	4	GORASP2	2	171804913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102675	171804913	71394460	3100	13417											
CYBRD1	79901	broad.mit.edu	37	chr2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagtcaccagaccgcaatgGaaacgtcctaaggagccaaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	224					cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498																																						ENST00000321348.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						c.(670-672)tgG>tgA		cytochrome b reductase 1							97	89	91					2																	172411148		2203	4300	6503	SO:0001587	stop_gained	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172411148G>A	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.672G>A	2.37:g.172411148G>A	ENSP00000319141:p.Trp224*					CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	p.W224*	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN			4	870	+			224					B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Nonsense_Mutation	SNP	ENST00000321348.4	37	c.672G>A	CCDS2244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230925|4.230925	0.79688|0.79688	.|.	.|.	ENSG00000071967|ENSG00000071967	ENST00000375252|ENST00000409484;ENST00000321348	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.38973|0.38973	D|D	0.958784|0.958784	D|.	0.63046|.	0.992|.	P|.	0.61592|.	0.891|.	T|.	0.40496|.	-0.9560|.	7|.	0.87932|0.02654	D|T	0|1	-0.5167|-0.5167	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|.	Q53TN4-2|.	.|.	K|X	155|166;224	.|.	ENSP00000364401:E155K|ENSP00000319141:W224X	E|W	+|+	1|3	0|0	CYBRD1|CYBRD1	172119394|172119394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.495000|8.495000	0.90481|0.90481	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.498	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		65	183	0	0	0	1	0	65	183					A	172411148	G	A	172411148	4	1	79	1	0	0	0	0	0	1	0	0	4145	1184	41	2	686	2	CYBRD1	2	172411148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	606235	172411148	70788225	3101	13418											
SLC25A12	8604	broad.mit.edu	37	chr2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtctcggaggaaacacGctttggcaccctgtcacaca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	486					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1456-1458)gCg>gTg		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						96	91	93					2																	172648089		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172648089G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1457C>T	2.37:g.172648089G>A	ENSP00000388658:p.Ala486Val					SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	p.A486V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		15	1494	-			486					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1457C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449200	0.96205	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.26	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89034	0.3444	10	0.87932	D	0	-10.5306	20.6593	0.99626	0.0:0.0:1.0:0.0	.	379;486	B3KR64;O75746	.;CMC1_HUMAN	V	486;379	ENSP00000388658:A486V;ENSP00000376371:A379V	ENSP00000376371:A379V	A	-	2	0	SLC25A12	172356335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.885000	0.99019	0.655000	0.94253	GCG		0.448	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		100	264	0	0	0	1	0	100	264					A	172648089	G	A	172648089	3	1	79	1	0	0	0	0	1	0	0	0	14524	1087	38	1	595	1	SLC25A12	2	172648089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236941	172648089	70551284	3102	13419											
MAP1D	254042	broad.mit.edu	37	chr2	172944904	172944904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaaagtcctggaggatgCatggactgtggtctccctag	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172944904C>T	ENST00000315796.4	+	9	1286	c.899C>T	c.(898-900)gCa>gTa	p.A300V	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	300					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ctggaggatgcatggactgtg	0.448																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(898-900)gCa>gTa		methionyl aminopeptidase type 1D (mitochondrial)							171	166	168					2																	172944904		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172944904C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.899C>T	2.37:g.172944904C>T	ENSP00000315152:p.Ala300Val					METAP1D_ENST00000488581.1_3'UTR	p.A300V	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			9	1286	+			300					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.899C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839983	0.51057	.	.	ENSG00000172878	ENST00000315796	T	0.76839	-1.05	5.95	3.98	0.46160	Peptidase M24, structural domain (3);	0.276681	0.44688	D	0.000435	T	0.66218	0.2767	L	0.34521	1.04	0.32722	N	0.510221	B	0.17465	0.022	B	0.21360	0.034	T	0.70368	-0.4891	10	0.72032	D	0.01	-10.6659	8.2068	0.31461	0.332:0.5529:0.115:0.0	.	300	Q6UB28	AMP1D_HUMAN	V	300	ENSP00000315152:A300V	ENSP00000315152:A300V	A	+	2	0	METAP1D	172653150	0.949000	0.32298	0.814000	0.32528	0.964000	0.63967	2.810000	0.47979	1.496000	0.48567	0.655000	0.94253	GCA		0.448	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		115	544	0	0	0	1	0	115	544					T	172944904	C	T	172944904	3	4	79	1	0	0	0	0	1	0	0	0	9270	710	25	2	933	2	MAP1D	2	172944904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296815	172944904	70254469	3103	13420											
ITGA6	3655	broad.mit.edu	37	chr2	173368845	173368845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttaaacgctctaggtaCgatgacagtgttccccgata	8	10	2	1	rs377166246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000264106.6	+	26	3461	c.3258C>T	c.(3256-3258)taC>taT	p.Y1086Y	ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|AC093818.1_ENST00000442417.1_RNA|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1086					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)			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)			GCTCTAGGTACGATGACAGTG	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19287	0.0		0.0	False		,,,				2504	0.0					ENST00000264106.6																			0				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						c.(3256-3258)taC>taT		integrin, alpha 6		C	,	1,3697		0,1,1848	55	50	51		,3141	6	1	2		51	1,8197		0,1,4098	no	utr-3,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,2,5946	TT,TC,CC		0.0122,0.027,0.0168	,	,1047/1092	173368845	2,11894	1849	4099	5948	SO:0001819	synonymous_variant	0				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.chr2:173368845C>T		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.3258C>T	2.37:g.173368845C>T						ITGA6_ENST00000409080.1_Silent_p.Y1047Y|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000409532.1_3'UTR|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000264107.7_3'UTR	p.Y1086Y			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		26	3461	+			1086					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.3258C>T																																																																																					0.378	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				16	48	0	0	0	1	0	16	48					T	173368845	C	T	173368845	2	4	79	1	0	0	0	0	0	0	0	1	7910	547	19	1		1	ITGA6	2	173368845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423941	173368845	69830528	3104	13421											
PDK1	5163	broad.mit.edu	37	chr2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggattgcccatatcacGtctttacgcacaatacttcc	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	363	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.			R -> C (in Ref. 2; ABB29979). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1087-1089)cGt>cAt		pyruvate dehydrogenase kinase, isozyme 1							134	131	132					2																	173457694		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173457694G>A	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1088G>A	2.37:g.173457694G>A	ENSP00000282077:p.Arg363His					PDK1_ENST00000282077.2_Missense_Mutation_p.R363H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H	p.R363H	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1188	+			363			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1088G>A	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740561	0.96873	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099648	0.64402	D	0.000001	T	0.79992	0.4542	H	0.94620	3.56	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61477	0.889;0.874	D	0.85090	0.0951	10	0.87932	D	0	-3.439	20.1182	0.97944	0.0:0.0:1.0:0.0	.	363;383	Q15118;E9PD65	PDK1_HUMAN;.	H	287;208;363;383;363	ENSP00000438567:R287H;ENSP00000437502:R208H;ENSP00000282077:R363H;ENSP00000376352:R383H;ENSP00000386985:R363H	ENSP00000282077:R363H	R	+	2	0	PDK1	173165940	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.775000	0.98995	2.775000	0.95449	0.650000	0.86243	CGT		0.383	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		123	347	0	0	0	1	0	123	347					A	173457694	G	A	173457694	3	1	79	1	0	0	0	0	1	0	0	0	11717	1145	40	1	1126	1	PDK1	2	173457694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88849	173457694	69741679	3105	13422											
RAPGEF4	11069	broad.mit.edu	37	chr2	173830410	173830410	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggtgttctcaaccaCggtaagatgagccccagtcc	11	11	1	3	rs376523114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000397081.3	+	9	962	c.819C>T	c.(817-819)caC>caT	p.H273H	RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000264111.6_Splice_Site_p.H272H|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	273	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTCAACCACGGTAAGATGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21213	0.0		0.001	False		,,,				2504	0.0					ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e9+1		Rap guanine nucleotide exchange factor (GEF) 4							124	125	124					2																	173830410		2061	4216	6277	SO:0001630	splice_region_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173830410C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.820+1C>T	2.37:g.173830410C>T						RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.H273_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273_splice	p.H272_splice			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		9	1003	+			273			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	ENST00000397081.3	37	c.817_splice	CCDS42775.1																																																																																				0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	Silent	14	428	0	0	0	1	0	14	428					T	173830410	C	T	173830410	5	4	79	1	0	0	0	0	0	0	1	0	13096	550	19	1	869	1	RAPGEF4	2	173830410	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372716	173830410	69368963	3106	13423											
RAPGEF4	11069	broad.mit.edu	37	chr2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaggagcttcttcataTtaaagccttatcccatcttt	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000397081.3	+	11	1204	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1057-1059)aTt>aGt		Rap guanine nucleotide exchange factor (GEF) 4							194	185	188					2																	173848280		1840	4102	5942	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173848280T>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1061T>G	2.37:g.173848280T>G	ENSP00000380271:p.Ile354Ser					RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.I354S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S	p.I353S			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		11	1245	+			354					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1058T>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940936	0.73557	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.79926	2.475	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.919;0.531;0.999	D;D;P;P;D	0.87578	0.989;0.997;0.771;0.466;0.998	D	0.93435	0.6789	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353S;ENSP00000380271:I354S;ENSP00000387104:I354S;ENSP00000380276:I210S;ENSP00000440135:I183S;ENSP00000440250:I201S;ENSP00000437384:I201S;ENSP00000438011:I134S	ENSP00000264111:I353S	I	+	2	0	RAPGEF4	173556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.333000	0.79357	0.482000	0.46254	ATT		0.388	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		96	478	0	0	0	1	0	96	478					G	173848280	T	G	173848280	3	3	79	1	0	0	0	0	1	0	0	0	13096	1493	52	4	1119	4	RAPGEF4	2	173848280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17870	173848280	69351093	3107	13424											
RAPGEF4	11069	broad.mit.edu	37	chr2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagatgacaatttatgatTgggaactcttcaactgcgtg	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000397081.3	+	24	2496	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2350-2352)Tgg>Cgg		Rap guanine nucleotide exchange factor (GEF) 4							122	108	112					2																	173891399		1927	4151	6078	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891399T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2353T>C	2.37:g.173891399T>C	ENSP00000380271:p.Trp785Arg					RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.W785R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R	p.W784R			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		24	2537	+			785			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2350T>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216318	0.79352	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.87456	2.885	0.80722	D	1	D;D	0.58268	0.982;0.97	P;D	0.68765	0.799;0.96	T	0.68580	-0.5371	10	0.87932	D	0	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;785	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	784;785;785;641;614;632;632;565;16	ENSP00000264111:W784R;ENSP00000380271:W785R;ENSP00000387104:W785R;ENSP00000380276:W641R;ENSP00000440135:W614R;ENSP00000440250:W632R;ENSP00000437384:W632R;ENSP00000438011:W565R;ENSP00000380274:W16R	ENSP00000264111:W784R	W	+	1	0	RAPGEF4	173599645	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TGG		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		88	380	0	0	0	1	0	88	380					C	173891399	T	C	173891399	3	2	79	1	0	0	0	0	1	0	0	0	13096	1812	63	4	2463	4	RAPGEF4	2	173891399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43119	173891399	69307974	3108	13425											
RAPGEF4	11069	broad.mit.edu	37	chr2	173916387	173916387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgatgcagctcaagcTaataagaaccatcaggatgt	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000397081.3	+	31	3071	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000538974.1_Silent_p.A805A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	976	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2923-2925)gcT>gcC		Rap guanine nucleotide exchange factor (GEF) 4							94	84	87					2																	173916387		1887	4113	6000	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173916387T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2928T>C	2.37:g.173916387T>C						RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000397081.3_Silent_p.A976A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A	p.A975A			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		31	3112	+			976			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.2925T>C	CCDS42775.1																																																																																				0.373	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		49	222	0	0	0	1	0	49	222					C	173916387	T	C	173916387	2	2	79	1	0	0	0	0	0	0	0	1	13096	1509	53	4		4	RAPGEF4	2	173916387	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24988	173916387	69282986	3109	13426											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		8	405						8	405	---	---	---	---	T	175213713	-	T	175213712	7	5	79	1	0	1	1	0	0	0	0	0	3441	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1297325	175213712	67985661	3110	13427											
GPR155	151556	broad.mit.edu	37	chr2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggactcttttgaagaaatCtgtaaaacaagtactcatcc	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	832	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2494-2496)aGa>aAa		G protein-coupled receptor 155							141	146	144					2																	175300962		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175300962C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2495G>A	2.37:g.175300962C>T	ENSP00000376335:p.Arg832Lys					GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			16	2733	-			832			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2495G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500226	0.85176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.26518	1.73;1.73;1.73	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000005	T	0.48333	0.1494	M	0.78223	2.4	0.58432	D	0.999997	D	0.58268	0.982	P	0.54401	0.751	T	0.23655	-1.0182	10	0.35671	T	0.21	-20.6633	20.8794	0.99867	0.0:1.0:0.0:0.0	.	832	Q7Z3F1	GP155_HUMAN	K	832	ENSP00000376335:R832K;ENSP00000376334:R832K;ENSP00000295500:R832K	ENSP00000295500:R832K	R	-	2	0	GPR155	175009208	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.623000	0.74238	2.941000	0.99782	0.655000	0.94253	AGA		0.433	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		160	770	0	0	0	1	0	160	770					T	175300962	C	T	175300962	3	4	79	1	0	0	0	0	1	0	0	0	6689	913	32	2	121	2	GPR155	2	175300962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87250	175300962	67898411	3111	13428											
WIPF1	7456	broad.mit.edu	37	chr2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggcattccagcctggAacaatcctcccagacctgga	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000392547.2	-	4	410	c.311T>C	c.(310-312)tTc>tCc	p.F104S	WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	104					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(310-312)tTc>tCc		WAS/WASL interacting protein family, member 1							129	127	128					2																	175439979		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175439979A>G	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.311T>C	2.37:g.175439979A>G	ENSP00000376330:p.Phe104Ser					WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA	p.F104S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			4	410	-			104					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.311T>C	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977920	0.92982	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117	D;D;D;D;D;D;T;T	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;2.58;2.58	5.55	5.55	0.83447	.	0.054881	0.64402	D	0.000001	D	0.93726	0.7995	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.994	D	0.94433	0.7651	10	0.66056	D	0.02	.	15.7042	0.77565	1.0:0.0:0.0:0.0	.	104;104;104;104	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	104;104;104;104;104;104;104;101;104	ENSP00000376330:F104S;ENSP00000272746:F104S;ENSP00000352802:F104S;ENSP00000376329:F104S;ENSP00000386431:F104S;ENSP00000387150:F104S;ENSP00000391785:F101S;ENSP00000386757:F104S	ENSP00000272746:F104S	F	-	2	0	WIPF1	175148225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.123000	0.89586	2.113000	0.64589	0.379000	0.24179	TTC		0.592	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		298	743	0	0	0	1	0	298	743					G	175439979	A	G	175439979	3	3	79	1	0	0	0	0	1	0	0	0	17421	246	9	4	1220	4	WIPF1	2	175439979	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139017	175439979	67759394	3112	13429											
WIPF1	7456	broad.mit.edu	37	chr2	175440090	175440090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaccaccaccgcctccaGcaccagctcctttaggttct	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175440090G>A	ENST00000392547.2	-	4	299	c.200C>T	c.(199-201)gCt>gTt	p.A67V	WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	67	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						accgcctccagcaccaGCTCC	0.597																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(199-201)gCt>gTt		WAS/WASL interacting protein family, member 1							87	100	95					2																	175440090		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440090G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.200C>T	2.37:g.175440090G>A	ENSP00000376330:p.Ala67Val					WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA	p.A67V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			4	299	-			67			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.200C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;2.3;1.57;1.57	4.36	1.47	0.22746	.	1.527220	0.04604	N	0.399003	T	0.75466	0.3853	L	0.40543	1.245	0.27310	N	0.957345	B;B;B;B	0.24186	0.069;0.099;0.069;0.049	B;B;B;B	0.21917	0.037;0.016;0.037;0.016	T	0.62048	-0.6936	10	0.59425	D	0.04	.	10.3513	0.43937	0.0855:0.5787:0.3358:0.0	.	67;67;67;67	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	V	67;67;67;67;67;67;67;64;67;67	ENSP00000376330:A67V;ENSP00000272746:A67V;ENSP00000352802:A67V;ENSP00000376329:A67V;ENSP00000386431:A67V;ENSP00000387150:A67V;ENSP00000391785:A64V;ENSP00000386757:A67V;ENSP00000388454:A67V	ENSP00000272746:A67V	A	-	2	0	WIPF1	175148336	0.872000	0.30054	0.190000	0.23270	0.109000	0.19521	0.978000	0.29488	0.183000	0.20059	0.462000	0.41574	GCT		0.597	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		22	1065	0	0	0	1	0	22	1065					A	175440090	G	A	175440090	3	1	79	1	0	0	0	0	1	0	0	0	17421	971	34	2	1331	2	WIPF1	2	175440090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	175440090	67759283	3113	13430											
CHRNA1	1134	broad.mit.edu	37	chr2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatgggtgctgggtgagCggtggtgtgtgttgatgacg	20	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000261007.5	-	8	1103	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCTGGGTGAGCGGTGGTGTGT	0.557																																						ENST00000348749.5																			2	Substitution - Missense(2)	p.R346L(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(961-963)cGc>cAc		cholinergic receptor, nicotinic, alpha 1 (muscle)							171	133	146					2																	175614714		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614714C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1037G>A	2.37:g.175614714C>T	ENSP00000261007:p.Arg346His					CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346H	p.R321H	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			7	1039	-			346					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.962G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499947	0.85176	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.94466	0.8219	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94813	0.7980	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	H	321;346;239;321	ENSP00000261008:R321H;ENSP00000261007:R346H;ENSP00000387026:R239H;ENSP00000386611:R321H	ENSP00000261007:R346H	R	-	2	0	CHRNA1	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			49	307	0	0	0	1	0	49	307					T	175614714	C	T	175614714	3	4	79	1	0	0	0	0	1	0	0	0	3390	768	27	1	423	1	CHRNA1	2	175614714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174624	175614714	67584659	3114	13431											
CHRNA1	1134	broad.mit.edu	37	chr2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgttcggagcccaggaCgaggccagctgagacagcag	14	12	1	1	rs202221890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000261007.5	-	2	118	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.V18F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAGCCCAGGACGAGGCCAGCT	0.557																																						ENST00000348749.5																			1	Substitution - Missense(1)	p.V18F(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(52-54)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							52	51	51					2																	175624353		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624353C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.52G>A	2.37:g.175624353C>T	ENSP00000261007:p.Val18Ile					CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V18I	p.V18I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			2	129	-			18					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.52G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445994	0.43429	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;T;T	0.83163	-1.16;-1.28;-1.69;-1.45;-0.79	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.72953	0.3525	L	0.33189	0.99	0.32774	N	0.50346	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.74241	-0.3729	10	0.37606	T	0.19	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	18	ENSP00000261008:V18I;ENSP00000261007:V18I;ENSP00000387026:V18I;ENSP00000386611:V18I;ENSP00000386684:V18I	ENSP00000261007:V18I	V	-	1	0	CHRNA1	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			81	441	0	0	0	1	0	81	441					T	175624353	C	T	175624353	3	4	79	1	0	0	0	0	1	0	0	0	3390	536	19	1	1432	1	CHRNA1	2	175624353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9639	175624353	67575020	3115	13432											
ATP5G3	518	broad.mit.edu	37	chr2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagctgctgcttcagcgaaGggtttctaaaagagaccaca	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	107					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	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)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(319-321)cCt>cAt		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							97	92	94					2																	176043125		2203	4300	6503	SO:0001583	missense	518				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|protein binding	g.chr2:176043125G>T	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.320C>A	2.37:g.176043125G>T	ENSP00000284727:p.Pro107His					ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H	p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		5	3344	-			107					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.320C>A	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101759	0.76983	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.70164	-0.46;-0.46;-0.46	5.93	5.06	0.68205	ATPase, F0/V0 complex, subunit C (3);	0.045788	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95152	0.8273	10	0.87932	D	0	-12.4168	17.3342	0.87275	0.0:0.1249:0.8751:0.0	.	107	P48201	AT5G3_HUMAN	H	107	ENSP00000284727:P107H;ENSP00000387317:P107H;ENSP00000376324:P107H	ENSP00000284727:P107H	P	-	2	0	ATP5G3	175751371	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.808000	0.99193	1.525000	0.49052	0.655000	0.94253	CCT		0.363	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		37	373	1	0	2.42023e-17	1	2.67004e-17	37	373					T	176043125	G	T	176043125	3	4	79	1	0	0	0	0	1	0	0	0	1156	1000	35	3	112	3	ATP5G3	2	176043125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418772	176043125	67156248	3116	13433											
KIAA1715	80856	broad.mit.edu	37	chr2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttctcaaaactaaactcagGaagtcttggagcctgaggtc	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	318					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(952-954)Cct>Act		KIAA1715							76	74	75					2																	176802174		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176802174G>T	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.952C>A	2.37:g.176802174G>T	ENSP00000272748:p.Pro318Thr					KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	p.P318T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		12	1199	-			318					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.952C>A	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926957	0.34002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	5.61	0.85477	.	0.049239	0.85682	D	0.000000	T	0.78065	0.4225	M	0.61703	1.905	0.53005	D	0.999968	D;P;D;D	0.76494	0.999;0.93;0.997;0.973	D;P;P;P	0.71656	0.974;0.496;0.879;0.614	T	0.79296	-0.1862	9	0.87932	D	0	-4.2995	19.6271	0.95682	0.0:0.0:1.0:0.0	.	320;349;315;318	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	318;320;195;349;243	.	ENSP00000272748:P318T	P	-	1	0	KIAA1715	176510420	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.299000	0.72770	2.645000	0.89757	0.591000	0.81541	CCT		0.423	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		59	332	1	0	1.64573e-32	1	1.94376e-32	59	332					T	176802174	G	T	176802174	3	4	79	1	0	0	0	0	1	0	0	0	8284	1174	41	3	342	3	KIAA1715	2	176802174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	759049	176802174	66397199	3117	13434											
KIAA1715	80856	broad.mit.edu	37	chr2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttctttgagctgcagttCgctgacgaatctctgagaag	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	169					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(505-507)cGa>cAa		KIAA1715							114	102	106					2																	176812408		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176812408C>T	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.506G>A	2.37:g.176812408C>T	ENSP00000272748:p.Arg169Gln					KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	p.R169Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	753	-			169					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.506G>A	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729288	0.89390	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;0.995	D;B;D;P	0.91635	0.999;0.36;0.996;0.629	T	0.79631	-0.1723	9	0.87932	D	0	-8.9298	20.5407	0.99260	0.0:1.0:0.0:0.0	.	171;169;166;169	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	169;171;46;169;94	.	ENSP00000272748:R169Q	R	-	2	0	KIAA1715	176520654	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.769000	0.74985	2.865000	0.98341	0.655000	0.94253	CGA		0.403	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		26	309	0	0	0	1	0	26	309					T	176812408	C	T	176812408	3	4	79	1	0	0	0	0	1	0	0	0	8284	884	31	1	800	1	KIAA1715	2	176812408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10234	176812408	66386965	3118	13435											
KIAA1715	80856	broad.mit.edu	37	chr2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttctcttggaaaagaAgaaaataattactgttctta	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	97					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(289-291)Ttc>Gtc		KIAA1715							22	23	23					2																	176844565		2174	4271	6445	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176844565A>C	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.289T>G	2.37:g.176844565A>C	ENSP00000272748:p.Phe97Val					KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	p.F97V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		5	536	-			97					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.289T>G	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398115	0.42512	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	5.31	4.12	0.48240	.	0.250174	0.43416	D	0.000579	T	0.48642	0.1511	L	0.55481	1.735	0.44652	D	0.997638	P;B;D;B	0.54601	0.898;0.284;0.967;0.212	B;B;B;B	0.43950	0.429;0.059;0.437;0.048	T	0.51482	-0.8700	9	0.87932	D	0	-2.4999	9.3517	0.38142	0.8403:0.0:0.0:0.1597	.	99;97;94;97	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	97;99;97;22;92	.	ENSP00000272748:F97V	F	-	1	0	KIAA1715	176552811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.913000	0.36797	0.460000	0.39030	TTC		0.274	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		14	80	0	0	0	1	0	14	80					C	176844565	A	C	176844565	3	2	79	1	0	0	0	0	1	0	0	0	8284	72	3	4	1033	4	KIAA1715	2	176844565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32157	176844565	66354808	3119	13436											
HOXD13	3239	broad.mit.edu	37	chr2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtatgccattaacaaaTtcattaacaaggacaagcgg	8	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	300					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CATTAACAAATTCATTAACAA	0.478			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(898-900)Ttc>Gtc		homeobox D13							110	100	104					2																	176959324		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959324T>G	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.898T>G	2.37:g.176959324T>G	ENSP00000376322:p.Phe300Val						p.F300V	NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	898	+			300						Missense_Mutation	SNP	ENST00000392539.3	37	c.898T>G	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384994	0.82792	.	.	ENSG00000128714	ENST00000392539	D	0.96011	-3.88	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97999	0.9341	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	.	15.1492	0.72684	0.0:0.0:0.0:1.0	.	300	P35453	HXD13_HUMAN	V	300	ENSP00000376322:F300V	ENSP00000376322:F300V	F	+	1	0	HOXD13	176667570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.234000	0.73211	0.533000	0.62120	TTC		0.478	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			21	277	0	0	0	1	0	21	277					G	176959324	T	G	176959324	3	3	79	1	0	0	0	0	1	0	0	0	7352	1493	52	4	904	4	HOXD13	2	176959324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114759	176959324	66240049	3120	13437											
HOXD12	3238	broad.mit.edu	37	chr2	176964670	176964670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatctcctacccgcgcggCgcgctgccctgggccgccac	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(139-141)ggC>ggT		homeobox D12							20	23	22					2																	176964670		1796	4038	5834	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964670C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.141C>T	2.37:g.176964670C>T						HOXD12_ENST00000404162.2_Silent_p.G47G	p.G47G			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	213	+			47	GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.141C>T	CCDS46456.1																																																																																				0.711	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		132	277	0	0	0	1	0	132	277					T	176964670	C	T	176964670	2	4	79	1	0	0	0	0	0	0	0	1	7351	755	27	1		1	HOXD12	2	176964670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5346	176964670	66234703	3121	13438											
HOXD12	3238	broad.mit.edu	37	chr2	176964901	176964901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgcccccgagtctagCctggctcctgcagtggctgc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12	124					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(370-372)agC>agT		homeobox D12							17	20	19					2																	176964901		1924	4139	6063	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964901C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.372C>T	2.37:g.176964901C>T						HOXD12_ENST00000404162.2_Silent_p.S124S	p.S124S			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	444	+			124					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.372C>T	CCDS46456.1																																																																																				0.677	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		34	127	0	0	0	1	0	34	127					T	176964901	C	T	176964901	2	4	79	1	0	0	0	0	0	0	0	1	7351	738	26	2		2	HOXD12	2	176964901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	176964901	66234472	3122	13439											
HOXD12	3238	broad.mit.edu	37	chr2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agattgcggagttggagaacGaattcctcgtcaacgaattc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12	220					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(658-660)Gaa>Aaa		homeobox D12							35	37	36					2																	176965333		1963	4166	6129	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965333G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.658G>A	2.37:g.176965333G>A	ENSP00000385586:p.Glu220Lys					HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q	p.E220K			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	730	+			220					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.658G>A	CCDS46456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.512092|3.512092	0.64522|0.64522	.|.	.|.	ENSG00000170178|ENSG00000170178	ENST00000406506|ENST00000404162	D|.	0.96365|.	-3.99|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83413|0.83413	0.5249|0.5249	M|M	0.82132|0.82132	2.575|2.575	0.39921|0.39921	D|D	0.974155|0.974155	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.83275	0.999|0.996	D|D	0.86338|0.86338	0.1703|0.1703	10|8	0.87932|0.87932	D|D	0|0	.|.	18.9681|18.9681	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|229	P35452|B5MCD3	HXD12_HUMAN|.	K|Q	220|229	ENSP00000385586:E220K|.	ENSP00000385586:E220K|ENSP00000385132:R229Q	E|R	+|+	1|2	0|0	HOXD12|HOXD12	176673579|176673579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		21	99	0	0	0	1	0	21	99					A	176965333	G	A	176965333	3	1	79	1	0	0	0	0	1	0	0	0	7351	1059	37	1	664	1	HOXD12	2	176965333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	176965333	66234040	3123	13440											
HOXD9	3235	broad.mit.edu	37	chr2	176987568	176987568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaactactacgtggactcGcttataggccatgagggcga	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	24					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGTGGACTCGCTTATAGGCC	0.687																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(70-72)tcG>tcA		homeobox D9							30	29	29					2																	176987568		2203	4300	6503	SO:0001819	synonymous_variant	3235					nucleus	sequence-specific DNA binding	g.chr2:176987568G>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.72G>A	2.37:g.176987568G>A						HOXD-AS2_ENST00000440016.2_RNA	p.S24S	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	481	+			24					Q86ST1	Silent	SNP	ENST00000249499.6	37	c.72G>A	CCDS2267.2																																																																																				0.687	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			28	147	0	0	0	1	0	28	147					A	176987568	G	A	176987568	2	1	79	1	0	0	0	0	0	0	0	1	7356	1074	38	1		1	HOXD9	2	176987568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22235	176987568	66211805	3124	13441											
HOXD8	3234	broad.mit.edu	37	chr2	176995386	176995386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtacttccaccccggcGggggcagcccggccgctgcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176995386G>A	ENST00000313173.4	+	1	919	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	98					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCACCCCGGCGGGGGCAGCCC	0.796																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(292-294)Ggg>Agg		homeobox D8							13	17	16					2																	176995386		1566	3366	4932	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995386G>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.292G>A	2.37:g.176995386G>A	ENSP00000315949:p.Gly98Arg					HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R	p.G98R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	919	+			98					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.292G>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925318	0.52759	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	D;D;D	0.91631	-2.88;-2.76;-2.76	3.8	2.91	0.33838	.	0.227351	0.28841	N	0.013975	T	0.80518	0.4638	N	0.08118	0	0.27208	N	0.959996	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.68334	-0.5436	10	0.30078	T	0.28	.	8.0588	0.30621	0.2098:0.0:0.7902:0.0	.	98;98	Q8IXZ1;P13378	.;HXD8_HUMAN	R	98	ENSP00000315949:G98R;ENSP00000437431:G98R;ENSP00000409026:G98R	ENSP00000315949:G98R	G	+	1	0	HOXD8	176703632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.658000	0.37376	0.729000	0.32403	0.442000	0.29010	GGG		0.796	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			7	333	0	0	0	1	0	7	333					A	176995386	G	A	176995386	3	1	79	1	0	0	0	0	1	0	0	0	7355	1116	39	1	294	1	HOXD8	2	176995386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	176995386	66203987	3125	13442											
HOXD4	3233	broad.mit.edu	37	chr2	177016490	177016490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggcggcggcgcgcagggCgcagacttccagcccccggg	17	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	ENST00000306324.3	+	1	541	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	43					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGCGCAGGGCGCAGACTTCC	0.716																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(127-129)ggC>ggT		homeobox D4							18	21	20					2																	177016490		2186	4238	6424	SO:0001819	synonymous_variant	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016490C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.129C>T	2.37:g.177016490C>T						HOXD3_ENST00000468418.3_5'UTR	p.G43G	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	541	+			43					B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	c.129C>T	CCDS2269.1																																																																																				0.716	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			45	200	0	0	0	1	0	45	200					T	177016490	C	T	177016490	2	4	79	1	0	0	0	0	0	0	0	1	7354	755	27	1		1	HOXD4	2	177016490	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	177016490	66182883	3126	13443											
TTC30B	150737	broad.mit.edu	37	chr2	178415760	178415760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaggtgtctgttcccaGctttttgttgtaaggttcca	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	578					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCTGTTCCCAGCTTTTTGTTG	0.368																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1732-1734)Ctg>Ttg		tetratricopeptide repeat domain 30B							154	160	158					2																	178415760		2203	4300	6503	SO:0001819	synonymous_variant	150737				cell projection organization	cilium	binding	g.chr2:178415760G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1732C>T	2.37:g.178415760G>A							p.L578L	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1982	-			578					Q63HQ1|Q96NE6	Silent	SNP	ENST00000408939.3	37	c.1732C>T	CCDS42784.1																																																																																				0.368	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		280	865	0	0	0	1	0	280	865					A	178415760	G	A	178415760	2	1	79	1	0	0	0	0	0	0	0	1	16753	962	34	2		2	TTC30B	2	178415760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1399270	178415760	64783613	3127	13444											
TTC30A	92104	broad.mit.edu	37	chr2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatattcattcactgcCtttttgatagcttcatcatc	3	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	411					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTCACTGCCTTTTTGATAG	0.428																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1231-1233)aaG>aaT		tetratricopeptide repeat domain 30A							238	240	239					2																	178482197		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482197C>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1233G>T	2.37:g.178482197C>A	ENSP00000347915:p.Lys411Asn					AC073834.3_ENST00000357045.4_RNA	p.K411N	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1497	-			411					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1233G>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241587	0.10077	.	.	ENSG00000197557	ENST00000355689	T	0.38722	1.12	5.91	0.404	0.16355	Tetratricopeptide-like helical (1);	0.042836	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.48571	D	0.999674	P	0.52842	0.956	P	0.50754	0.649	T	0.26710	-1.0095	10	0.38643	T	0.18	.	5.8059	0.18440	0.121:0.4448:0.0:0.4342	.	411	Q86WT1	TT30A_HUMAN	N	411	ENSP00000347915:K411N	ENSP00000347915:K411N	K	-	3	2	TTC30A	178190443	0.995000	0.38212	0.418000	0.26571	0.130000	0.20726	0.333000	0.19768	-0.209000	0.10156	-0.194000	0.12790	AAG		0.428	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		245	914	1	0	2.90217e-92	1	3.72755e-92	245	914					A	178482197	C	A	178482197	3	1	79	1	0	0	0	0	1	0	0	0	16752	680	24	3	768	3	TTC30A	2	178482197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66437	178482197	64717176	3128	13445											
TTC30A	92104	broad.mit.edu	37	chr2	178483101	178483101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacccggctgtggtagGcggggttatccaggagaagg	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.5	-	1	593	c.329C>T	c.(328-330)gCc>gTc	p.A110V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	110					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCTGTGGTAGGCGGGGTTATC	0.637																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(328-330)gCc>gTc		tetratricopeptide repeat domain 30A							37	41	40					2																	178483101		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483101G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.329C>T	2.37:g.178483101G>A	ENSP00000347915:p.Ala110Val					AC073834.3_ENST00000357045.4_RNA	p.A110V	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	593	-			110					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.329C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300224	0.40694	.	.	ENSG00000197557	ENST00000355689	T	0.78816	-1.21	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.311741	0.39083	N	0.001467	T	0.75191	0.3816	L	0.48642	1.525	0.47862	D	0.999533	B	0.17268	0.021	B	0.20767	0.031	T	0.66917	-0.5802	10	0.32370	T	0.25	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	110	Q86WT1	TT30A_HUMAN	V	110	ENSP00000347915:A110V	ENSP00000347915:A110V	A	-	2	0	TTC30A	178191347	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.468000	0.53086	2.868000	0.98415	0.555000	0.69702	GCC		0.637	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		16	352	0	0	0	1	0	16	352					A	178483101	G	A	178483101	3	1	79	1	0	0	0	0	1	0	0	0	16752	1203	42	2	1672	2	TTC30A	2	178483101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	178483101	64716272	3129	13446											
TTC30A	92104	broad.mit.edu	37	chr2	178483364	178483364	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcggcgtagcgggcatcgcgGatgagccggtacactagcgc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	22					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCGCGGATGAGCCGGT	0.672																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(64-66)atC>atA		tetratricopeptide repeat domain 30A							11	13	13					2																	178483364		2134	4240	6374	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178483364G>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.66C>A	2.37:g.178483364G>T							p.I22I	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	330	-			22					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.66C>A	CCDS2276.1																																																																																				0.672	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		11	73	1	0	4.84862e-15	1	5.28562e-15	11	73					T	178483364	G	T	178483364	2	4	79	1	0	0	0	0	0	0	0	1	16752	1164	41	3		3	TTC30A	2	178483364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	178483364	64716009	3130	13447											
PDE11A	50940	broad.mit.edu	37	chr2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctccatgaacatccGgagagcagctgtgatcatgg	11	13	1	3	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATGAACATCCGGAGAGCAGCT	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial				G|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.0		0.0	False		,,,				2504	0.001					ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1885-1887)Cgg>Tgg		phosphodiesterase 11A		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91	86	88		553,1135,811,1885	5.5	1	2	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	185/490,379/684,271/576,629/934	178592804	1,13005	2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178592804G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1885C>T	2.37:g.178592804G>A	ENSP00000286063:p.Arg629Trp					PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W|PDE11A_ENST00000497003.1_5'UTR	p.R629W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		11	2202	-			629					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1885C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376199	0.82682	2.27E-4	0.0	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.979	D	0.89515	0.3774	10	0.87932	D	0	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	379;629	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	W	629;379;271;185;271	ENSP00000286063:R629W;ENSP00000351232:R379W;ENSP00000386539:R271W;ENSP00000374333:R185W;ENSP00000390599:R271W	ENSP00000286063:R629W	R	-	1	2	PDE11A	178301050	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.344000	0.59354	2.609000	0.88269	0.563000	0.77884	CGG		0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			97	202	0	0	0	1	0	97	202					A	178592804	G	A	178592804	3	1	79	1	0	0	0	0	1	0	0	0	11673	1115	39	1	956	1	PDE11A	2	178592804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109440	178592804	64606569	3131	13448											
RBM45	129831	broad.mit.edu	37	chr2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgcatggccagtGcctcggccccaacgacacca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			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)			CATGGCCAGTGCCTCGGCCCC	0.657																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(268-270)tGc>tAc		RNA binding motif protein 45							45	45	45					2																	178977542		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977542G>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.269G>A	2.37:g.178977542G>A	ENSP00000286070:p.Cys90Tyr						p.C90Y	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	361	+			90			RRM 1.		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.269G>A	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187412	0.57909	.	.	ENSG00000155636	ENST00000286070	D	0.85556	-2.0	4.73	2.9	0.33743	.	0.230414	0.43919	N	0.000503	T	0.74122	0.3675	N	0.03983	-0.305	0.44595	D	0.997569	D	0.54207	0.965	P	0.51135	0.66	T	0.77517	-0.2558	10	0.66056	D	0.02	-5.4128	9.7539	0.40492	0.169:0.0:0.831:0.0	.	90	Q8IUH3-3	.	Y	90	ENSP00000286070:C90Y	ENSP00000286070:C90Y	C	+	2	0	RBM45	178685788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.216000	0.58540	1.122000	0.41944	0.563000	0.77884	TGC		0.657	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		22	331	0	0	0	1	0	22	331					A	178977542	G	A	178977542	3	1	79	1	0	0	0	0	1	0	0	0	13189	1319	46	2	271	2	RBM45	2	178977542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384738	178977542	64221831	3132	13449											
OSBPL6	114880	broad.mit.edu	37	chr2	179192982	179192982	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttcttcttttctctcaGgaagctgacagctgggaaat	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTTCTCTCAGGAAGCTGACA	0.393																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.e5-1		oxysterol binding protein-like 6							110	117	115					2																	179192982		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179192982G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.196-1G>A	2.37:g.179192982G>A						OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site		NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		5	571	+								B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	37		CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248864	0.80024	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL6	178901228	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.350000	0.97070	2.577000	0.86979	0.655000	0.94253	.		0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Intron	93	510	0	0	0	1	0	93	510					A	179192982	G	A	179192982	5	1	79	1	0	0	0	0	0	0	1	0	11323	1014	35	2	248	2	OSBPL6	2	179192982	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215440	179192982	64006391	3133	13450											
OSBPL6	114880	broad.mit.edu	37	chr2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtaagccattcaacccaGtccttggggagacttatgaa	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	651					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTCAACCCAGTCCTTGGGGA	0.448																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1951-1953)Gtc>Ttc		oxysterol binding protein-like 6							239	237	238					2																	179248841		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179248841G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1951G>T	2.37:g.179248841G>T	ENSP00000190611:p.Val651Phe					OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F	p.V651F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		18	2327	+			651					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1951G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955235	0.92726	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	.	0.056980	0.64402	D	0.000001	T	0.61311	0.2337	M	0.87328	2.875	0.80722	D	1	B;P;D;D;P	0.56287	0.272;0.551;0.975;0.969;0.837	B;B;P;P;B	0.61070	0.209;0.283;0.883;0.613;0.435	T	0.65088	-0.6253	10	0.62326	D	0.03	-13.4894	20.2985	0.98592	0.0:0.0:1.0:0.0	.	620;655;615;676;651	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	676;615;620;651;615;655	ENSP00000376293:V676F;ENSP00000352713:V615F;ENSP00000387248:V620F;ENSP00000190611:V651F;ENSP00000386885:V615F;ENSP00000318723:V655F	ENSP00000190611:V651F	V	+	1	0	OSBPL6	178957087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.793000	0.96121	0.655000	0.94253	GTC		0.448	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		237	1248	1	0	3.68518e-59	1	4.62544e-59	237	1248					T	179248841	G	T	179248841	3	4	79	1	0	0	0	0	1	0	0	0	11323	1029	36	3	2135	3	OSBPL6	2	179248841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55859	179248841	63950532	3134	13451											
OSBPL6	114880	broad.mit.edu	37	chr2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtttgcatttgcaaacTcacatttgtcaaggtaaata	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	763					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTGCAAACTCACATTTGTC	0.338																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2287-2289)cTc>cCc		oxysterol binding protein-like 6							96	82	87					2																	179253867		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253867T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2288T>C	2.37:g.179253867T>C	ENSP00000190611:p.Leu763Pro					OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P	p.L763P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2664	+			763					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2288T>C	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577262	0.86645	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.65	5.65	0.86999	.	0.059218	0.64402	D	0.000001	T	0.72867	0.3514	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.992;0.966;0.999;0.992	P;D;P;D;D	0.69479	0.894;0.921;0.894;0.964;0.915	T	0.81095	-0.1088	10	0.87932	D	0	-11.915	16.1778	0.81874	0.0:0.0:0.0:1.0	.	732;767;727;788;763	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	788;727;732;763;727;767	ENSP00000376293:L788P;ENSP00000352713:L727P;ENSP00000387248:L732P;ENSP00000190611:L763P;ENSP00000386885:L727P;ENSP00000318723:L767P	ENSP00000190611:L763P	L	+	2	0	OSBPL6	178962113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CTC		0.338	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		65	146	0	0	0	1	0	65	146					C	179253867	T	C	179253867	3	2	79	1	0	0	0	0	1	0	0	0	11323	1551	54	4	2484	4	OSBPL6	2	179253867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5026	179253867	63945506	3135	13452											
FKBP7	51661	broad.mit.edu	37	chr2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatctgtcatagcaatgTctaggccttttatgacttgc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATAGCAATGTCTAGGCCTTT	0.398																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(289-291)gAc>gCc		FK506 binding protein 7							91	91	91					2																	179341872		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341872T>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.290A>C	2.37:g.179341872T>G	ENSP00000413152:p.Asp97Ala					FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A|FKBP7_ENST00000464248.1_5'UTR	p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	348	-			97			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.290A>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677742	0.88445	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58797	0.31;0.31	5.82	5.82	0.92795	.	0.042037	0.85682	D	0.000000	T	0.81394	0.4813	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.959;0.998	D	0.85766	0.1352	10	0.87932	D	0	-2.8742	16.19	0.81981	0.0:0.0:0.0:1.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	97	ENSP00000413152:D97A;ENSP00000415486:D97A	ENSP00000233092:D97A	D	-	2	0	FKBP7	179050118	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAC		0.398	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		13	491	0	0	0	1	0	13	491					G	179341872	T	G	179341872	3	3	79	1	0	0	0	0	1	0	0	0	5938	1667	58	4	390	4	FKBP7	2	179341872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88005	179341872	63857501	3136	13453											
TTN	7273	broad.mit.edu	37	chr2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacatcttaatttcttcaGaccttagggctttttgggaa	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000591111.1	-	310	101941	c.101717C>A	c.(101716-101718)tCt>tAt	p.S33906Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35547Y|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33906					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCTTCAGACCTTAGGGC	0.393																																						ENST00000589042.1																			0				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						c.(106639-106641)tCt>tAt		titin							58	55	56					2																	179393838		1814	4069	5883	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393838G>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.101717C>A	2.37:g.179393838G>T	ENSP00000465570:p.Ser33906Tyr					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33906Y|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.S35547Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	106864	-			33906					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.106640C>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.689384	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;0.14;0.12;0.11	5.54	5.54	0.83059	Ribonuclease H-like (1);	.	.	.	.	T	0.70334	0.3212	N	0.19112	0.55	0.39804	D	0.972609	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.71656	0.974;0.974;0.974;0.974	T	0.75431	-0.3320	9	0.87932	D	0	.	14.9955	0.71428	0.0:0.0:1.0:0.0	.	26482;26607;26674;33906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	32979;26482;26674;26607;26479	ENSP00000343764:S32979Y;ENSP00000434586:S26482Y;ENSP00000340554:S26674Y;ENSP00000352154:S26607Y	ENSP00000340554:S26674Y	S	-	2	0	TTN	179102084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.390000	0.66261	2.607000	0.88179	0.655000	0.94253	TCT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	129	1	0	1.62957e-23	1	1.85347e-23	43	129					T	179393838	G	T	179393838	3	4	79	1	0	0	0	0	1	0	0	0	16789	942	33	3	1351	3	TTN	2	179393838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51966	179393838	63805535	3137	13454											
TTN	7273	broad.mit.edu	37	chr2	179395508	179395508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagagactgggaggtgCtgaactttctctgttggtgt	17	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000591111.1	-	308	101135	c.100911G>A	c.(100909-100911)caG>caA	p.Q33637Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Silent_p.Q35278Q|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33637					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGAGGTGCTGAACTTTCT	0.458																																						ENST00000589042.1																			0				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						c.(105832-105834)caG>caA		titin							139	137	138					2																	179395508		1933	4119	6052	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395508C>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.100911G>A	2.37:g.179395508C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.Q33637Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.Q35278Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	106058	-			33637					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.105834G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	200	0	0	0	1	0	10	200					T	179395508	C	T	179395508	2	4	79	1	0	0	0	0	0	0	0	1	16789	796	28	2		2	TTN	2	179395508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1670	179395508	63803865	3138	13455											
TTN	7273	broad.mit.edu	37	chr2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagctcagggaaaacagatCtggggacctcttcatctctg	10	11	6	1	rs376175862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000591111.1	-	308	100450	c.100226G>T	c.(100225-100227)aGa>aTa	p.R33409I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35050I|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33409					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAACAGATCTGGGGACCTC	0.473																																						ENST00000589042.1																			0				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						c.(105148-105150)aGa>aTa		titin							125	123	124					2																	179396193		1924	4139	6063	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396193C>A	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.100226G>T	2.37:g.179396193C>A	ENSP00000465570:p.Arg33409Ile					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33409I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.R35050I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	105373	-			33409					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.105149G>T		.	.	.	.	.	.	.	.	.	.	C	13.08	2.129850	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.17;0.22	5.45	2.63	0.31362	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.19112	0.55	0.36256	D	0.854247	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.22386	0.015;0.015;0.029;0.039	T	0.41124	-0.9526	9	0.87932	D	0	.	5.9207	0.19080	0.0:0.6427:0.1392:0.2181	.	25985;26110;26177;33409	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32482;25985;26177;26110;25982	ENSP00000343764:R32482I;ENSP00000434586:R25985I;ENSP00000340554:R26177I;ENSP00000352154:R26110I	ENSP00000340554:R26177I	R	-	2	0	TTN	179104439	0.568000	0.26635	0.800000	0.32199	0.836000	0.47400	0.994000	0.29693	0.253000	0.21552	0.650000	0.86243	AGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		105	323	1	0	6.17869e-53	1	7.6938e-53	105	323					A	179396193	C	A	179396193	3	1	79	1	0	0	0	0	1	0	0	0	16789	913	32	3	2850	3	TTN	2	179396193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	179396193	63803180	3139	13456											
TTN	7273	broad.mit.edu	37	chr2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtctcagtagtctagacGcagatgaggatgattctctt	11	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000591111.1	-	308	99799	c.99575C>T	c.(99574-99576)gCg>gTg	p.A33192V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A34833V|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33192	Poly-Ser.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCTAGACGCAGATGAGGA	0.453																																						ENST00000589042.1																			0				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						c.(104497-104499)gCg>gTg		titin							97	90	92					2																	179396844		1990	4168	6158	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396844G>A	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.99575C>T	2.37:g.179396844G>A	ENSP00000465570:p.Ala33192Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A33192V|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.A34833V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104722	-			33192					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.104498C>T		.	.	.	.	.	.	.	.	.	.	G	3.741	-0.053536	0.07362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.6;0.58;0.57	5.55	3.04	0.35103	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.28665	0.0710	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	9	0.87932	D	0	.	7.9077	0.29771	0.6567:0.0:0.3433:0.0	.	25768;25893;25960;33192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32265;25768;25960;25893;25765	ENSP00000343764:A32265V;ENSP00000434586:A25768V;ENSP00000340554:A25960V;ENSP00000352154:A25893V	ENSP00000340554:A25960V	A	-	2	0	TTN	179105090	0.860000	0.29831	0.051000	0.19133	0.336000	0.28762	1.809000	0.38922	0.334000	0.23590	-0.355000	0.07637	GCG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	212	0	0	0	1	0	25	212					A	179396844	G	A	179396844	3	1	79	1	0	0	0	0	1	0	0	0	16789	1087	38	1	3501	1	TTN	2	179396844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	651	179396844	63802529	3140	13457											
TTN	7273	broad.mit.edu	37	chr2	179401007	179401007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgaattgggacatcAgatttgggagtgatgggttc	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000591111.1	-	307	95768	c.95544T>C	c.(95542-95544)tcT>tcC	p.S31848S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Silent_p.S33489S|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31848	Fibronectin type-III 131. {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)			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)			TTGGGACATCAGATTTGGGAG	0.413																																						ENST00000589042.1																			0				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						c.(100465-100467)tcT>tcC		titin							85	79	81					2																	179401007		1878	4112	5990	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401007A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95544T>C	2.37:g.179401007A>G						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.S31848S|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.S33489S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		357	100691	-			31848			Ig-like 147.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.100467T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	98	0	0	0	1	0	34	98					G	179401007	A	G	179401007	2	3	79	1	0	0	0	0	0	0	0	1	16789	175	7	4		4	TTN	2	179401007	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4163	179401007	63798366	3141	13458											
TTN	7273	broad.mit.edu	37	chr2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatctttggatattgaaaGaatctcaagttctcctggtt	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000591111.1	-	304	94323	c.94099C>T	c.(94099-94101)Ctt>Ttt	p.L31367F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33008F|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31367	Fibronectin type-III 129. {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)			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)			GATATTGAAAGAATCTCAAGT	0.373																																						ENST00000589042.1																			0				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						c.(99022-99024)Ctt>Ttt		titin							115	108	110					2																	179403534		1878	4107	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403534G>A	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.94099C>T	2.37:g.179403534G>A	ENSP00000465570:p.Leu31367Phe					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31367F|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.L33008F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		354	99246	-			31367					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.99022C>T		.	.	.	.	.	.	.	.	.	.	G	15.40	2.821590	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57681	0.2070	L	0.53729	1.69	0.31624	N	0.649877	P;P;P;D	0.54397	0.934;0.934;0.934;0.966	P;P;P;P	0.49637	0.617;0.617;0.617;0.617	T	0.66288	-0.5961	9	0.87932	D	0	.	13.2697	0.60153	0.0:0.0:0.7415:0.2584	.	23943;24068;24135;31367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30440;23943;24135;24068;23940	ENSP00000343764:L30440F;ENSP00000434586:L23943F;ENSP00000340554:L24135F;ENSP00000352154:L24068F	ENSP00000340554:L24135F	L	-	1	0	TTN	179111780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.343000	0.59348	2.878000	0.98634	0.650000	0.86243	CTT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		161	406	0	0	0	1	0	161	406					A	179403534	G	A	179403534	3	1	79	1	0	0	0	0	1	0	0	0	16789	942	33	2	8993	2	TTN	2	179403534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2527	179403534	63795839	3142	13459											
TTN	7273	broad.mit.edu	37	chr2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatactcagcatcgggaAcaagccctgtgacagtgtac	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000591111.1	-	303	94189	c.93965T>G	c.(93964-93966)gTt>gGt	p.V31322G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32963G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31322	Fibronectin type-III 128. {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)			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)			AGCATCGGGAACAAGCCCTGT	0.488																																						ENST00000589042.1																			0				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						c.(98887-98889)gTt>gGt		titin							222	230	227					2																	179403774		2143	4231	6374	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403774A>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.93965T>G	2.37:g.179403774A>C	ENSP00000465570:p.Val31322Gly					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31322G|TTN-AS1_ENST00000592689.1_RNA	p.V32963G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		353	99112	-			31322					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.98888T>G		.	.	.	.	.	.	.	.	.	.	A	16.22	3.060845	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70902	0.3277	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.73672	-0.3909	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	23898;24023;24090;31322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30395;23898;24090;24023;23895	ENSP00000343764:V30395G;ENSP00000434586:V23898G;ENSP00000340554:V24090G;ENSP00000352154:V24023G	ENSP00000340554:V24090G	V	-	2	0	TTN	179112020	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.440000	0.80464	2.324000	0.78689	0.533000	0.62120	GTT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	338	0	0	0	1	0	16	338					C	179403774	A	C	179403774	3	2	79	1	0	0	0	0	1	0	0	0	16789	43	2	4	9131	4	TTN	2	179403774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240	179403774	63795599	3143	13460											
TTN	7273	broad.mit.edu	37	chr2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctccagtatctctgataGtggtttcacggatggttaat	9	7	3	1	rs146098114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000591111.1	-	298	92410	c.92186C>A	c.(92185-92187)aCt>aAt	p.T30729N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32370N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30729	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCTGATAGTGGTTTCACG	0.393																																						ENST00000589042.1																			0				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						c.(97108-97110)aCt>aAt		titin							236	224	228					2																	179407472		1887	4125	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407472G>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.92186C>A	2.37:g.179407472G>T	ENSP00000465570:p.Thr30729Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T30729N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.T32370N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		348	97333	-			30729			Protein kinase.		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.97109C>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.819888	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75591	0.3870	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77822	-0.2445	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23305;23430;23497;30729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29802;23305;23497;23430;23302	ENSP00000343764:T29802N;ENSP00000434586:T23305N;ENSP00000340554:T23497N;ENSP00000352154:T23430N	ENSP00000340554:T23497N	T	-	2	0	TTN	179115718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.903000	0.87398	2.677000	0.91161	0.655000	0.94253	ACT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		155	755	1	0	4.13621e-57	1	5.17916e-57	155	755					T	179407472	G	T	179407472	3	4	79	1	0	0	0	0	1	0	0	0	16789	1029	36	3	10930	3	TTN	2	179407472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3698	179407472	63791901	3144	13461											
TTN	7273	broad.mit.edu	37	chr2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttgccagtatactgcaaaGagactttttcacagagatct	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000591111.1	-	292	90289	c.90065C>A	c.(90064-90066)tCt>tAt	p.S30022Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31663Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30022	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTGCAAAGAGACTTTTTC	0.448																																						ENST00000589042.1																			0				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						c.(94987-94989)tCt>tAt		titin							158	155	156					2																	179411070		1935	4135	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411070G>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.90065C>A	2.37:g.179411070G>T	ENSP00000465570:p.Ser30022Tyr					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30022Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.S31663Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		342	95212	-			30022			Fibronectin type-III 130.		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.94988C>A		.	.	.	.	.	.	.	.	.	.	G	17.58	3.424982	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82646	0.5082	M	0.75447	2.3	0.46521	D	0.999088	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.83925	0.0303	9	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	22598;22723;22790;30022	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	29095;22598;22790;22723;22595	ENSP00000343764:S29095Y;ENSP00000434586:S22598Y;ENSP00000340554:S22790Y;ENSP00000352154:S22723Y	ENSP00000340554:S22790Y	S	-	2	0	TTN	179119316	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.545000	0.73883	2.657000	0.90304	0.655000	0.94253	TCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		183	547	1	0	2.18101e-91	1	2.80073e-91	183	547					T	179411070	G	T	179411070	3	4	79	1	0	0	0	0	1	0	0	0	16789	942	33	3	13075	3	TTN	2	179411070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3598	179411070	63788303	3145	13462											
TTN	7273	broad.mit.edu	37	chr2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttttgtctcatttcaaGcaggtagccagtgatccggc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000591111.1	-	289	88749	c.88525C>T	c.(88525-88527)Ctt>Ttt	p.L29509F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31150F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29509	Fibronectin type-III 115. {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)			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)			CTCATTTCAAGCAGGTAGCCA	0.463																																						ENST00000589042.1																			0				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						c.(93448-93450)Ctt>Ttt		titin							155	160	158					2																	179412905		1971	4157	6128	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412905G>A	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.88525C>T	2.37:g.179412905G>A	ENSP00000465570:p.Leu29509Phe					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L29509F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.L31150F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93672	-			29509			Ig-like 139.		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.93448C>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538536	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.65	4.76	0.60689	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66723	0.2818	M	0.70595	2.14	0.38867	D	0.956614	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.51777	0.679;0.679;0.679;0.628	T	0.73830	-0.3859	9	0.87932	D	0	.	13.6656	0.62393	0.0:0.0:0.7186:0.2814	.	22085;22210;22277;29509	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28582;22085;22277;22210;22082	ENSP00000343764:L28582F;ENSP00000434586:L22085F;ENSP00000340554:L22277F;ENSP00000352154:L22210F	ENSP00000340554:L22277F	L	-	1	0	TTN	179121151	1.000000	0.71417	0.926000	0.36857	0.991000	0.79684	2.820000	0.48057	1.354000	0.45846	-0.182000	0.12963	CTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		284	838	0	0	0	1	0	284	838					A	179412905	G	A	179412905	3	1	79	1	0	0	0	0	1	0	0	0	16789	971	34	2	14627	2	TTN	2	179412905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	179412905	63786468	3146	13463											
TTN	7273	broad.mit.edu	37	chr2	179414764	179414764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaccagatgcatttttggCttccactgtgtatacaccac	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179414764C>A	ENST00000591111.1	-	287	87102	c.86878G>T	c.(86878-86880)Gcc>Tcc	p.A28960S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30601S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28960	Ig-like 133.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATTTTTGGCTTCCACTGTG	0.383																																						ENST00000589042.1																			0				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						c.(91801-91803)Gcc>Tcc		titin							140	138	139					2																	179414764		1861	4092	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414764C>A	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.86878G>T	2.37:g.179414764C>A	ENSP00000465570:p.Ala28960Ser					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28960S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A30601S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		337	92025	-			28960			Fibronectin type-III 123.		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.91801G>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.611908	0.87258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92299	0.7557	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.93650	0.6972	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21536;21661;21728;28960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28033;21536;21728;21661;21533	ENSP00000343764:A28033S;ENSP00000434586:A21536S;ENSP00000340554:A21728S;ENSP00000352154:A21661S	ENSP00000340554:A21728S	A	-	1	0	TTN	179123010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	GCC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	432	1	0	0.00136819	1	0.0013818	12	432					A	179414764	C	A	179414764	3	1	79	1	0	0	0	0	1	0	0	0	16789	797	28	3	16282	3	TTN	2	179414764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1859	179414764	63784609	3147	13464											
TTN	7273	broad.mit.edu	37	chr2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagttctttcactgtaattGgcccaatagtgacaggatca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000591111.1	-	285	85657	c.85433C>T	c.(85432-85434)cCa>cTa	p.P28478L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30119L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28478	Fibronectin type-III 107. {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)			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)			CACTGTAATTGGCCCAATAGT	0.438																																						ENST00000589042.1																			0				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						c.(90355-90357)cCa>cTa		titin							72	69	70					2																	179417271		1908	4124	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417271G>A	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.85433C>T	2.37:g.179417271G>A	ENSP00000465570:p.Pro28478Leu					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P28478L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.P30119L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	90580	-			28478			Fibronectin type-III 119.		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.90356C>T		.	.	.	.	.	.	.	.	.	.	G	16.32	3.088870	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.06;-0.11;-0.09	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.69307	0.905;0.905;0.905;0.963	D	0.86867	0.2033	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21054;21179;21246;28478	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27551;21054;21246;21179;21051	ENSP00000343764:P27551L;ENSP00000434586:P21054L;ENSP00000340554:P21246L;ENSP00000352154:P21179L	ENSP00000340554:P21246L	P	-	2	0	TTN	179125517	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.956000	0.87863	2.882000	0.98803	0.655000	0.94253	CCA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	169	0	0	0	1	0	32	169					A	179417271	G	A	179417271	3	1	79	1	0	0	0	0	1	0	0	0	16789	1348	47	2	17735	2	TTN	2	179417271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2507	179417271	63782102	3148	13465											
TTN	7273	broad.mit.edu	37	chr2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaccaataggatcagcaGctttgtagaattcagatggt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000591111.1	-	283	84484	c.84260C>T	c.(84259-84261)gCt>gTt	p.A28087V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29728V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28087	Fibronectin type-III 104. {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)			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)			AGGATCAGCAGCTTTGTAGAA	0.398																																						ENST00000589042.1																			0				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						c.(89182-89184)gCt>gTt		titin							62	62	62					2																	179418655		1925	4139	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418655G>A	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.84260C>T	2.37:g.179418655G>A	ENSP00000465570:p.Ala28087Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28087V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A29728V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		333	89407	-			28087			Fibronectin type-III 116.		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.89183C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.673021	0.88445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.61	5.61	0.85477	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70491	0.3230	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71331	-0.4625	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20663;20788;20855;28087	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	27160;20663;20855;20788;20660	ENSP00000343764:A27160V;ENSP00000434586:A20663V;ENSP00000340554:A20855V;ENSP00000352154:A20788V	ENSP00000340554:A20855V	A	-	2	0	TTN	179126901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.793000	0.96121	0.655000	0.94253	GCT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	190	0	0	0	1	0	41	190					A	179418655	G	A	179418655	3	1	79	1	0	0	0	0	1	0	0	0	16789	971	34	2	18916	2	TTN	2	179418655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	179418655	63780718	3149	13466											
TTN	7273	broad.mit.edu	37	chr2	179418886	179418886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctgctccatacaacaGtcatcgaattcttggtaatc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418886G>T	ENST00000591111.1	-	283	84253	c.84029C>A	c.(84028-84030)aCt>aAt	p.T28010N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T29651N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28010	Fibronectin type-III 104. {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)			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)			CCATACAACAGTCATCGAATT	0.418																																						ENST00000589042.1																			0				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						c.(88951-88953)aCt>aAt		titin							177	171	173					2																	179418886		1924	4145	6069	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418886G>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.84029C>A	2.37:g.179418886G>T	ENSP00000465570:p.Thr28010Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T28010N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.T29651N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		333	89176	-			28010			Ig-like 135.		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.88952C>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105073	0.77096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	M	0.78285	2.405	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79907	-0.1605	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20586;20711;20778;28010	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27083;20586;20778;20711;20583	ENSP00000343764:T27083N;ENSP00000434586:T20586N;ENSP00000340554:T20778N;ENSP00000352154:T20711N	ENSP00000340554:T20778N	T	-	2	0	TTN	179127132	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.842000	0.62831	2.793000	0.96121	0.655000	0.94253	ACT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	681	1	0	4.96729e-08	1	5.17613e-08	19	681					T	179418886	G	T	179418886	3	4	79	1	0	0	0	0	1	0	0	0	16789	1029	36	3	19147	3	TTN	2	179418886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231	179418886	63780487	3150	13467											
TTN	7273	broad.mit.edu	37	chr2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttttccacaatgtagTgagtgatttttgcaccacca	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000591111.1	-	282	84004	c.83780A>G	c.(83779-83781)cAc>cGc	p.H27927R	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29568R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27927	Fibronectin type-III 103. {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)			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)			CACAATGTAGTGAGTGATTTT	0.468																																						ENST00000589042.1																			0				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						c.(88702-88704)cAc>cGc		titin							107	109	109					2																	179419371		2033	4183	6216	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419371T>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.83780A>G	2.37:g.179419371T>C	ENSP00000465570:p.His27927Arg					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27927R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.H29568R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		332	88927	-			27927			Ig-like 135.		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.88703A>G		.	.	.	.	.	.	.	.	.	.	T	18.85	3.710933	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64832	0.2634	L	0.37897	1.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67848	-0.5564	9	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	20503;20628;20695;27927	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27000;20503;20695;20628;20500	ENSP00000343764:H27000R;ENSP00000434586:H20503R;ENSP00000340554:H20695R;ENSP00000352154:H20628R	ENSP00000340554:H20695R	H	-	2	0	TTN	179127617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	CAC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		181	399	0	0	0	1	0	181	399					C	179419371	T	C	179419371	3	2	79	1	0	0	0	0	1	0	0	0	16789	1696	59	4	19400	4	TTN	2	179419371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	485	179419371	63780002	3151	13468											
TTN	7273	broad.mit.edu	37	chr2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcatccactattaaggCgatcggcatctttgatgagt	9	9	1	2	rs143193258	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000591111.1	-	281	83815	c.83591G>A	c.(83590-83592)cGc>cAc	p.R27864H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29505H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27864	Ig-like 130.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATTAAGGCGATCGGCATC	0.428													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(88513-88515)cGc>cAc		titin							90	86	87					2																	179419672		1937	4135	6072	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419672C>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.83591G>A	2.37:g.179419672C>T	ENSP00000465570:p.Arg27864His					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27864H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R29505H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		331	88738	-			27864			Fibronectin type-III 115.		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.88514G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.48	3.633142	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65389	-0.6180	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20440;20565;20632;27864	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26937;20440;20632;20565;20437	ENSP00000343764:R26937H;ENSP00000434586:R20440H;ENSP00000340554:R20632H;ENSP00000352154:R20565H	ENSP00000340554:R20632H	R	-	2	0	TTN	179127918	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CGC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	167	0	0	0	1	0	45	167					T	179419672	C	T	179419672	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	19593	1	TTN	2	179419672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	179419672	63779701	3152	13469											
TTN	7273	broad.mit.edu	37	chr2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgatggtcaggttctcaGcagtaatttcggtattaaat	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000591111.1	-	278	82591	c.82367C>T	c.(82366-82368)gCt>gTt	p.A27456V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29097V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27456					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTCTCAGCAGTAATTTC	0.433																																						ENST00000589042.1																			0				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						c.(87289-87291)gCt>gTt		titin							112	108	110					2																	179422791		1892	4116	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422791G>A	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.82367C>T	2.37:g.179422791G>A	ENSP00000465570:p.Ala27456Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A27456V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A29097V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		328	87514	-			27456			Fibronectin type-III 112.		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.87290C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.329266	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42921	0.1224	N	0.25332	0.735	0.53005	D	0.999964	P;P;P;D	0.53619	0.925;0.925;0.925;0.961	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.40608	-0.9554	9	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	20032;20157;20224;27456	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26529;20032;20224;20157;20029	ENSP00000343764:A26529V;ENSP00000434586:A20032V;ENSP00000340554:A20224V;ENSP00000352154:A20157V	ENSP00000340554:A20224V	A	-	2	0	TTN	179131037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		156	464	0	0	0	1	0	156	464					A	179422791	G	A	179422791	3	1	79	1	0	0	0	0	1	0	0	0	16789	971	34	2	20829	2	TTN	2	179422791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3119	179422791	63776582	3153	13470											
TTN	7273	broad.mit.edu	37	chr2	179425926	179425926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagttcagttacttcaaaGtatgtttcttgtatattagt	7	4	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000591111.1	-	276	80234	c.80010C>T	c.(80008-80010)taC>taT	p.Y26670Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28311Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26670	Fibronectin type-III 94. {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)			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)			TTACTTCAAAGTATGTTTCTT	0.428																																						ENST00000589042.1																			0				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						c.(84931-84933)taC>taT		titin							84	77	79					2																	179425926		1918	4119	6037	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425926G>A	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.80010C>T	2.37:g.179425926G>A						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Y26670Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.Y28311Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85157	-			26670			Fibronectin type-III 106.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.84933C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	276	0	0	0	1	0	64	276					A	179425926	G	A	179425926	2	1	79	1	0	0	0	0	0	0	0	1	16789	1024	36	2		2	TTN	2	179425926	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3135	179425926	63773447	3154	13471											
TTN	7273	broad.mit.edu	37	chr2	179430078	179430078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagctgtttcttcaacGtttactcttgttgtctgttt	9	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25286	Ig-like 124.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAACGTTTACTCTTG	0.393																																						ENST00000589042.1																			0				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						c.(80779-80781)aaC>aaT		titin							163	152	156					2																	179430078		1854	4099	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430078G>A	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.75858C>T	2.37:g.179430078G>A						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.N26927N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81005	-			25286			Fibronectin type-III 96.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80781C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		190	450	0	0	0	1	0	190	450					A	179430078	G	A	179430078	2	1	79	1	0	0	0	0	0	0	0	1	16789	1136	40	1		1	TTN	2	179430078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	179430078	63769295	3155	13472											
TTN	7273	broad.mit.edu	37	chr2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgccatcatgttcaggtttCtcccacataagtgatgcact	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000591111.1	-	276	75707	c.75483G>T	c.(75481-75483)gaG>gaT	p.E25161D	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26802D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25161	Fibronectin type-III 83. {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)			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)			GTTCAGGTTTCTCCCACATAA	0.493																																						ENST00000589042.1																			0				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						c.(80404-80406)gaG>gaT		titin							186	178	180					2																	179430453		1997	4177	6174	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430453C>A	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.75483G>T	2.37:g.179430453C>A	ENSP00000465570:p.Glu25161Asp					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25161D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.E26802D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80630	-			25161					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.80406G>T		.	.	.	.	.	.	.	.	.	.	C	9.529	1.110340	0.20714	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39279	0.1072	L	0.37850	1.14	0.40100	D	0.976354	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31308	-0.9948	9	0.87932	D	0	.	5.4379	0.16492	0.1388:0.6031:0.0:0.2582	.	17737;17862;17929;25161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	24234;17737;17929;17862;17735	ENSP00000343764:E24234D;ENSP00000434586:E17737D;ENSP00000340554:E17929D;ENSP00000352154:E17862D	ENSP00000340554:E17929D	E	-	3	2	TTN	179138699	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.217000	0.17603	0.747000	0.32809	0.484000	0.47621	GAG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		280	691	1	0	2.54815e-128	1	3.28172e-128	280	691					A	179430453	C	A	179430453	3	1	79	1	0	0	0	0	1	0	0	0	16789	912	32	3	27721	3	TTN	2	179430453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	179430453	63768920	3156	13473											
TTN	7273	broad.mit.edu	37	chr2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaacaacatcccataCtgtggtggttgtatctcttt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000591111.1	-	276	73110	c.72886G>A	c.(72886-72888)Gta>Ata	p.V24296I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25937I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24296	Fibronectin type-III 76. {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)			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)			ACATCCCATACTGTGGTGGTT	0.393																																						ENST00000589042.1																			0				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						c.(77809-77811)Gta>Ata		titin							94	90	92					2																	179433050		1875	4103	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433050C>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.72886G>A	2.37:g.179433050C>T	ENSP00000465570:p.Val24296Ile					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24296I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V25937I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	78033	-			24296			Fibronectin type-III 89.		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.77809G>A		.	.	.	.	.	.	.	.	.	.	C	10.41	1.341799	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.64	2.59	0.31030	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41926	0.1180	L	0.33485	1.01	0.25217	N	0.989934	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.42766	-0.9432	9	0.87932	D	0	.	10.9367	0.47249	0.0:0.6307:0.2998:0.0695	.	16872;16997;17064;24296	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23369;16872;17064;16997;16870	ENSP00000343764:V23369I;ENSP00000434586:V16872I;ENSP00000340554:V17064I;ENSP00000352154:V16997I	ENSP00000340554:V17064I	V	-	1	0	TTN	179141296	0.690000	0.27699	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	1.356000	0.45884	0.655000	0.94253	GTA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	209	0	0	0	1	0	66	209					T	179433050	C	T	179433050	3	4	79	1	0	0	0	0	1	0	0	0	16789	565	20	2	30318	2	TTN	2	179433050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2597	179433050	63766323	3157	13474											
TTN	7273	broad.mit.edu	37	chr2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgattttactgccacCatcatgttcaggttttgtcc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000591111.1	-	276	72477	c.72253G>A	c.(72253-72255)Ggt>Agt	p.G24085S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25726S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24085	Fibronectin type-III 75. {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)			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)			TTACTGCCACCATCATGTTCA	0.413																																						ENST00000589042.1																			0				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						c.(77176-77178)Ggt>Agt		titin							193	188	190					2																	179433683		1995	4168	6163	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433683C>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.72253G>A	2.37:g.179433683C>T	ENSP00000465570:p.Gly24085Ser					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24085S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.G25726S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77400	-			24085					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.77176G>A		.	.	.	.	.	.	.	.	.	.	C	15.73	2.921098	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80099	0.4561	M	0.91818	3.245	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	0.83892	0.0285	9	0.87932	D	0	.	19.8963	0.96963	0.0:1.0:0.0:0.0	.	16661;16786;16853;24085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23158;16661;16853;16786;16659	ENSP00000343764:G23158S;ENSP00000434586:G16661S;ENSP00000340554:G16853S;ENSP00000352154:G16786S	ENSP00000340554:G16853S	G	-	1	0	TTN	179141929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		117	691	0	0	0	1	0	117	691					T	179433683	C	T	179433683	3	4	79	1	0	0	0	0	1	0	0	0	16789	594	21	2	30951	2	TTN	2	179433683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	179433683	63765690	3158	13475											
TTN	7273	broad.mit.edu	37	chr2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttcttgtggcttcacGtttctcaacaatgtaatttt	6	7	3	1	rs549745098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000591111.1	-	276	72222	c.71998C>T	c.(71998-72000)Cgt>Tgt	p.R24000C	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25641C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24000	Fibronectin type-III 74. {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)			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)			GTGGCTTCACGTTTCTCAACA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21273	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(76921-76923)Cgt>Tgt		titin							207	209	209					2																	179433938		1860	4086	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433938G>A	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.71998C>T	2.37:g.179433938G>A	ENSP00000465570:p.Arg24000Cys					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24000C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R25641C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77145	-			24000			Ig-like 125.		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.76921C>T		.	.	.	.	.	.	.	.	.	.	G	12.60	1.986746	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78097	0.4230	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.82444	-0.0454	9	0.87932	D	0	.	16.8246	0.85927	0.0:0.1288:0.8712:0.0	.	16576;16701;16768;24000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23073;16576;16768;16701;16574	ENSP00000343764:R23073C;ENSP00000434586:R16576C;ENSP00000340554:R16768C;ENSP00000352154:R16701C	ENSP00000340554:R16768C	R	-	1	0	TTN	179142184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.720000	0.74723	1.415000	0.47037	0.650000	0.86243	CGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		328	957	0	0	0	1	0	328	957					A	179433938	G	A	179433938	3	1	79	1	0	0	0	0	1	0	0	0	16789	1145	40	1	31206	1	TTN	2	179433938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255	179433938	63765435	3159	13476											
TTN	7273	broad.mit.edu	37	chr2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggatcacaagccttttgGtaagcagaaggagggcttgg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000591111.1	-	276	71489	c.71265C>A	c.(71263-71265)taC>taA	p.Y23755*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25396*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23755	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AAGCCTTTTGGTAAGCAGAAG	0.433																																						ENST00000589042.1																			0				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						c.(76186-76188)taC>taA		titin							111	105	106					2																	179434671		1874	4104	5978	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434671G>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.71265C>A	2.37:g.179434671G>T	ENSP00000465570:p.Tyr23755*					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y23755*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.Y25396*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76412	-			23755			Fibronectin type-III 84.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.76188C>A		.	.	.	.	.	.	.	.	.	.	G	63	75.056652	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4014	0.16299	0.2655:0.0:0.6036:0.1309	.	.	.	.	X	22828;16331;16523;16456;16329	.	ENSP00000340554:Y16523X	Y	-	3	2	TTN	179142917	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.980000	0.49321	0.422000	0.26005	0.655000	0.94253	TAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	243	1	0	2.00842e-17	1	2.21757e-17	45	243					T	179434671	G	T	179434671	4	4	79	1	0	0	0	0	0	1	0	0	16789	1256	44	3	31939	3	TTN	2	179434671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733	179434671	63764702	3160	13477											
TTN	7273	broad.mit.edu	37	chr2	179442498	179442498	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggctttcatccaagacttCgaaggtagatctcgcttctc	8	11	3	2	rs187392843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000591111.1	-	273	63956	c.63732G>A	c.(63730-63732)tcG>tcA	p.S21244S	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.S22885S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 54. {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)			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)			TCCAAGACTTCGAAGGTAGAT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19969	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(68653-68655)tcG>tcA		titin							161	141	148					2																	179442498		1921	4136	6057	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442498C>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.63732G>A	2.37:g.179442498C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.S22885S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		323	68879	-			21244			Fibronectin type-III 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.68655G>A																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		99	234	0	0	0	1	0	99	234					T	179442498	C	T	179442498	2	4	79	1	0	0	0	0	0	0	0	1	16789	871	31	1		1	TTN	2	179442498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7827	179442498	63756875	3161	13478											
TTN	7273	broad.mit.edu	37	chr2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttcttcagtcaggaaatCaactacatatccaataatcc	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000591111.1	-	269	62766	c.62542G>A	c.(62542-62544)Gat>Aat	p.D20848N	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22489N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20848	Fibronectin type-III 51. {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)			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)			GTCAGGAAATCAACTACATAT	0.413																																						ENST00000589042.1																			0				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						c.(67465-67467)Gat>Aat		titin							113	105	107					2																	179444459		1901	4115	6016	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444459C>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.62542G>A	2.37:g.179444459C>T	ENSP00000465570:p.Asp20848Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20848N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.D22489N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		319	67689	-			20848			Fibronectin type-III 63.		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.67465G>A		.	.	.	.	.	.	.	.	.	.	C	15.41	2.826684	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62344	0.2420	L	0.39898	1.24	0.54753	D	0.999988	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	T	0.64575	-0.6375	9	0.87932	D	0	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	13424;13549;13616;20848	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19921;13424;13616;13549;13422	ENSP00000343764:D19921N;ENSP00000434586:D13424N;ENSP00000340554:D13616N;ENSP00000352154:D13549N	ENSP00000340554:D13616N	D	-	1	0	TTN	179152705	1.000000	0.71417	0.981000	0.43875	0.862000	0.49288	7.729000	0.84864	2.666000	0.90696	0.462000	0.41574	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	368	0	0	0	1	0	47	368					T	179444459	C	T	179444459	3	4	79	1	0	0	0	0	1	0	0	0	16789	826	29	2	40690	2	TTN	2	179444459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1961	179444459	63754914	3162	13479											
TTN	7273	broad.mit.edu	37	chr2	179454805	179454805	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactgctgttcttagctgaGatgatatacttgccatgatc	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000591111.1	-	254	56948	c.56724C>A	c.(56722-56724)atC>atA	p.I18908I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.I20549I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18908	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAGCTGAGATGATATACT	0.448																																						ENST00000589042.1																			0				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						c.(61645-61647)atC>atA		titin							126	122	123					2																	179454805		1927	4142	6069	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454805G>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.56724C>A	2.37:g.179454805G>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.I18908I|TTN-AS1_ENST00000592689.1_RNA	p.I20549I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61871	-			18908			Fibronectin type-III 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.61647C>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	370	1	0	3.62531e-18	1	4.01709e-18	37	370					T	179454805	G	T	179454805	2	4	79	1	0	0	0	0	0	0	0	1	16789	932	33	3		3	TTN	2	179454805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10346	179454805	63744568	3163	13480											
TTN	7273	broad.mit.edu	37	chr2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatcagctctaacagcttCtttaatttgtaactcaacac	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000591111.1	-	254	56913	c.56689G>T	c.(56689-56691)Gaa>Taa	p.E18897*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20538*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18897	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAACAGCTTCTTTAATTTGT	0.448																																						ENST00000589042.1																			0				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						c.(61612-61614)Gaa>Taa		titin							141	138	139					2																	179454840		1924	4119	6043	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454840C>A	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.56689G>T	2.37:g.179454840C>A	ENSP00000465570:p.Glu18897*					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E18897*|TTN-AS1_ENST00000592689.1_RNA	p.E20538*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61836	-			18897			Fibronectin type-III 49.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.61612G>T		.	.	.	.	.	.	.	.	.	.	C	61	54.036070	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5172	0.39113	0.1431:0.7861:0.0:0.0708	.	.	.	.	X	17970;11473;11665;11598;11471	.	ENSP00000340554:E11665X	E	-	1	0	TTN	179163086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.784000	0.62411	2.844000	0.97970	0.650000	0.86243	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		154	337	1	0	9.55336e-64	1	1.2063e-63	154	337					A	179454840	C	A	179454840	4	1	79	1	0	0	0	0	0	1	0	0	16789	922	32	3	46603	3	TTN	2	179454840	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	179454840	63744533	3164	13481											
TTN	7273	broad.mit.edu	37	chr2	179455352	179455352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtggtttgatgggcCggcaagcttttattggatca	14	7	1	1	rs141973925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	ENST00000591111.1	-	254	56401	c.56177G>A	c.(56176-56178)cGg>cAg	p.R18726Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20367Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGATGGGCCGGCAAGCTTT	0.433													C|||	6	0.00119808	0.0008	0.0029	5008	,	,		22262	0.0		0.003	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(61099-61101)cGg>cAg		titin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,3765		0,5,1880	109	107	107		33905,53396,34280,34481	6.1	1	2	dbSNP_134	107	35,8191		0,35,4078	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,40,5958	TT,TC,CC		0.4255,0.1326,0.3334	probably-damaging,probably-damaging,probably-damaging,probably-damaging	11302/26927,17799/33424,11427/27052,11494/27119	179455352	40,11956	1885	4113	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455352C>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.56177G>A	2.37:g.179455352C>T	ENSP00000465570:p.Arg18726Gln					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18726Q|TTN-AS1_ENST00000592689.1_RNA	p.R20367Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61324	-			18726			Fibronectin type-III 47.		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.61100G>A		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	15.40	2.821552	0.50633	0.001326	0.004255	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60818	0.2298	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.59101	-0.7517	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17799;11302;11494;11427;11300	ENSP00000343764:R17799Q;ENSP00000434586:R11302Q;ENSP00000340554:R11494Q;ENSP00000352154:R11427Q	ENSP00000340554:R11494Q	R	-	2	0	TTN	179163598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.976000	0.70484	2.906000	0.99361	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		105	521	0	0	0	1	0	105	521					T	179455352	C	T	179455352	3	4	79	1	0	0	0	0	1	0	0	0	16789	652	23	1	47115	1	TTN	2	179455352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	179455352	63744021	3165	13482											
TTN	7273	broad.mit.edu	37	chr2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcattcagatgcttagCgaagtgactctttttctttg	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000591111.1	-	252	55113	c.54889G>A	c.(54889-54891)Gct>Act	p.A18297T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19938T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18297	Fibronectin type-III 32. {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)			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)			AGATGCTTAGCGAAGTGACTC	0.473																																						ENST00000589042.1																			0				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						c.(59812-59814)Gct>Act		titin							81	79	79					2																	179456819		1933	4139	6072	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456819C>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.54889G>A	2.37:g.179456819C>T	ENSP00000465570:p.Ala18297Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18297T|TTN-AS1_ENST00000592689.1_RNA	p.A19938T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		302	60036	-			18297			Fibronectin type-III 44.		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.59812G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563683	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70046	0.3179	L	0.55017	1.72	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.67103	0.909;0.909;0.909;0.949	T	0.69734	-0.5065	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10873;10998;11065;18297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17370;10873;11065;10998;10871	ENSP00000343764:A17370T;ENSP00000434586:A10873T;ENSP00000340554:A11065T;ENSP00000352154:A10998T	ENSP00000340554:A11065T	A	-	1	0	TTN	179165065	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.059000	0.57470	2.868000	0.98415	0.557000	0.71058	GCT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	150	0	0	0	1	0	32	150					T	179456819	C	T	179456819	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	48411	1	TTN	2	179456819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1467	179456819	63742554	3166	13483											
TTN	7273	broad.mit.edu	37	chr2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctcccaccatcatgaCgtggtggctgccaagttaga	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000591111.1	-	250	54415	c.54191G>A	c.(54190-54192)cGt>cAt	p.R18064H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19705H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18064	Fibronectin type-III 31. {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)			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)			ACCATCATGACGTGGTGGCTG	0.418																																						ENST00000589042.1																			0				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						c.(59113-59115)cGt>cAt		titin							155	150	151					2																	179457732		1913	4132	6045	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457732C>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.54191G>A	2.37:g.179457732C>T	ENSP00000465570:p.Arg18064His					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18064H|TTN-AS1_ENST00000592689.1_RNA	p.R19705H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		300	59338	-			18064			Fibronectin type-III 42.		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.59114G>A		.	.	.	.	.	.	.	.	.	.	C	12.71	2.018629	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69824	0.3154	L	0.58428	1.81	0.50632	D	0.999883	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62491	0.903;0.903;0.903;0.903	T	0.69183	-0.5212	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10640;10765;10832;18064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17137;10640;10832;10765;10638	ENSP00000343764:R17137H;ENSP00000434586:R10640H;ENSP00000340554:R10832H;ENSP00000352154:R10765H	ENSP00000340554:R10832H	R	-	2	0	TTN	179165978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.937000	0.99478	0.650000	0.86243	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		239	599	0	0	0	1	0	239	599					T	179457732	C	T	179457732	3	4	79	1	0	0	0	0	1	0	0	0	16789	536	19	1	49117	1	TTN	2	179457732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	179457732	63741641	3167	13484											
TTN	7273	broad.mit.edu	37	chr2	179458402	179458402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttttccttcaagtagtttaGaaactttgcatgttgtttta	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458402G>A	ENST00000591111.1	-	248	53926	c.53702C>T	c.(53701-53703)tCt>tTt	p.S17901F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S19542F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17901	Fibronectin type-III 29. {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)			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)			AAGTAGTTTAGAAACTTTGCA	0.368																																						ENST00000589042.1																			0				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						c.(58624-58626)tCt>tTt		titin							100	94	96					2																	179458402		1848	4092	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458402G>A	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.53702C>T	2.37:g.179458402G>A	ENSP00000465570:p.Ser17901Phe					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S17901F|TTN-AS1_ENST00000592689.1_RNA	p.S19542F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		298	58849	-			17901			Ig-like 109.		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.58625C>T		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239923	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.47078	1.49	0.39337	D	0.965512	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.22;0.22;0.353;0.353	T	0.63976	-0.6515	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	10477;10602;10669;17901	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16974;10477;10669;10602;10475	ENSP00000343764:S16974F;ENSP00000434586:S10477F;ENSP00000340554:S10669F;ENSP00000352154:S10602F	ENSP00000340554:S10669F	S	-	2	0	TTN	179166648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.769000	0.98969	2.857000	0.98124	0.650000	0.86243	TCT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	318	0	0	0	1	0	13	318					A	179458402	G	A	179458402	3	1	79	1	0	0	0	0	1	0	0	0	16789	942	33	2	49614	2	TTN	2	179458402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	670	179458402	63740971	3168	13485											
TTN	7273	broad.mit.edu	37	chr2	179458929	179458929	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcttcaccaactcgaatCgtgagcttatctctgaagtc	7	11	2	2	rs370091658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000591111.1	-	247	53492	c.53268G>A	c.(53266-53268)acG>acA	p.T17756T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.T19397T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17756	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTCGAATCGTGAGCTTAT	0.418																																						ENST00000589042.1																			0				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						c.(58189-58191)acG>acA		titin		C	,,,	0,3814		0,0,1907	72	67	69		30996,50487,31371,31572	-12.3	0	2		69	1,8249		0,1,4124	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	,,,	10332/26927,16829/33424,10457/27052,10524/27119	179458929	1,12063	1907	4125	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458929C>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.53268G>A	2.37:g.179458929C>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000592689.1_RNA	p.T19397T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	58415	-			17756			Fibronectin type-III 40.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.58191G>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	252	0	0	0	1	0	53	252					T	179458929	C	T	179458929	2	4	79	1	0	0	0	0	0	0	0	1	16789	871	31	1		1	TTN	2	179458929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	527	179458929	63740444	3169	13486											
TTN	7273	broad.mit.edu	37	chr2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaagtctgtccttcatttCaatgacatctgtgacctctc	5	13	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000591111.1	-	243	52545	c.52321G>A	c.(52321-52323)Gaa>Aaa	p.E17441K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19082K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17441	Fibronectin type-III 26. {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)			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)			TCCTTCATTTCAATGACATCT	0.373																																						ENST00000589042.1																			0				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						c.(57244-57246)Gaa>Aaa		titin							160	155	157					2																	179462653		1899	4125	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462653C>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.52321G>A	2.37:g.179462653C>T	ENSP00000465570:p.Glu17441Lys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17441K	p.E19082K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		293	57468	-			17441			Fibronectin type-III 38.		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.57244G>A		.	.	.	.	.	.	.	.	.	.	C	17.12	3.307995	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44371	0.1290	N	0.11313	0.125	0.58432	D	0.999994	D;D;D;D	0.58620	0.966;0.966;0.966;0.983	P;P;P;P	0.51016	0.505;0.505;0.505;0.656	T	0.51841	-0.8654	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	10017;10142;10209;17441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16514;10017;10209;10142;10015	ENSP00000343764:E16514K;ENSP00000434586:E10017K;ENSP00000340554:E10209K;ENSP00000352154:E10142K	ENSP00000340554:E10209K	E	-	1	0	TTN	179170898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.941000	0.99782	0.655000	0.94253	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		83	404	0	0	0	1	0	83	404					T	179462653	C	T	179462653	3	4	79	1	0	0	0	0	1	0	0	0	16789	835	29	2	50729	2	TTN	2	179462653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3724	179462653	63736720	3170	13487											
TTN	7273	broad.mit.edu	37	chr2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgacagtcatggagttaCgagtcacgctgctaactgtt	11	8	2	1	rs572453785		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000591111.1	-	241	51994	c.51770G>A	c.(51769-51771)cGt>cAt	p.R17257H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18898H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17257	Fibronectin type-III 25. {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)			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)			CATGGAGTTACGAGTCACGCT	0.418													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(56692-56694)cGt>cAt		titin							58	56	57					2																	179463744		1883	4105	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463744C>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.51770G>A	2.37:g.179463744C>T	ENSP00000465570:p.Arg17257His					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17257H	p.R18898H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	56917	-			17257			Ig-like 107.		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.56693G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908815	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41650	0.1168	L	0.27053	0.805	0.27011	N	0.964683	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.32693	-0.9897	9	0.87932	D	0	.	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	9833;9958;10025;17257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16330;9833;10025;9958;9831	ENSP00000343764:R16330H;ENSP00000434586:R9833H;ENSP00000340554:R10025H;ENSP00000352154:R9958H	ENSP00000340554:R10025H	R	-	2	0	TTN	179171989	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	2.843000	0.97960	0.650000	0.86243	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	251	0	0	0	1	0	28	251					T	179463744	C	T	179463744	3	4	79	1	0	0	0	0	1	0	0	0	16789	536	19	1	51288	1	TTN	2	179463744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1091	179463744	63735629	3171	13488											
TTN	7273	broad.mit.edu	37	chr2	179465822	179465822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggagcccccatcattcttCgggggtttccatgacagatg	13	11	2	2	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000591111.1	-	238	51110	c.50886G>A	c.(50884-50886)ccG>ccA	p.P16962P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P18603P|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 23. {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)			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)			CATCATTCTTCGGGGGTTTCC	0.458																																						ENST00000589042.1																			0				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						c.(55807-55809)ccG>ccA		titin							68	67	67					2																	179465822		1888	4119	6007	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179465822C>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.50886G>A	2.37:g.179465822C>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P	p.P18603P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	56033	-			16962			Fibronectin type-III 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.55809G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	382	0	0	0	1	0	81	382					T	179465822	C	T	179465822	2	4	79	1	0	0	0	0	0	0	0	1	16789	871	31	1		1	TTN	2	179465822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2078	179465822	63733551	3172	13489											
TTN	7273	broad.mit.edu	37	chr2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatttttttacctgtgcatCttcgggtatgtcatgaactc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000591111.1	-	235	50595	c.50371G>A	c.(50371-50373)Gat>Aat	p.D16791N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D18432N|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16791	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			aCCTGTGCATCTTCGGGTATG	0.308																																						ENST00000589042.1																			0				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						c.(55294-55296)Gat>Aat		titin							73	67	68					2																	179466617		1803	4075	5878	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466617C>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.50371G>A	2.37:g.179466617C>T	ENSP00000465570:p.Asp16791Asn					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16791N	p.D18432N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		285	55518	-			16791					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.55294G>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.557858	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69242	0.3089	M	0.63843	1.955	0.44247	D	0.997092	B;B;B;B	0.21606	0.026;0.026;0.026;0.058	B;B;B;B	0.24394	0.053;0.053;0.053;0.043	T	0.65290	-0.6204	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9367;9492;9559;16791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15864;9367;9559;9492;9367	ENSP00000343764:D15864N;ENSP00000434586:D9367N;ENSP00000340554:D9559N;ENSP00000352154:D9492N	ENSP00000340554:D9559N	D	-	1	0	TTN	179174862	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.015000	0.57152	2.885000	0.99019	0.655000	0.94253	GAT		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	265	0	0	0	1	0	43	265					T	179466617	C	T	179466617	3	4	79	1	0	0	0	0	1	0	0	0	16789	913	32	2	52711	2	TTN	2	179466617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	795	179466617	63732756	3173	13490											
TTN	7273	broad.mit.edu	37	chr2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttggttatctgaagtgCatcagtgggtttttcaatta	9	6	3	1	rs531242797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000591111.1	-	230	49338	c.49114G>A	c.(49114-49116)Gca>Aca	p.A16372T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A18013T|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16372	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGAAGTGCATCAGTGGGT	0.478																																						ENST00000589042.1																			0				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						c.(54037-54039)Gca>Aca		titin							135	125	128					2																	179469867		1874	4102	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469867C>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.49114G>A	2.37:g.179469867C>T	ENSP00000465570:p.Ala16372Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16372T	p.A18013T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	54261	-			16372			Fibronectin type-III 30.		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.54037G>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.226034	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29945	0.0749	N	0.13003	0.285	0.35599	D	0.807743	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28459	-1.0043	9	0.87932	D	0	.	15.2041	0.73165	0.0:0.9315:0.0:0.0685	.	8948;9073;9140;16372	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15445;8948;9140;9073;8948	ENSP00000343764:A15445T;ENSP00000434586:A8948T;ENSP00000340554:A9140T;ENSP00000352154:A9073T	ENSP00000340554:A9140T	A	-	1	0	TTN	179178112	0.998000	0.40836	0.956000	0.39512	0.934000	0.57294	2.314000	0.43743	1.400000	0.46741	0.563000	0.77884	GCA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	334	0	0	0	1	0	53	334					T	179469867	C	T	179469867	3	4	79	1	0	0	0	0	1	0	0	0	16789	710	25	2	53988	2	TTN	2	179469867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3250	179469867	63729506	3174	13491											
TTN	7273	broad.mit.edu	37	chr2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctcgtttcacttctaggCttgttctcagaatgactttg	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000591111.1	-	223	47068	c.46844G>T	c.(46843-46845)aGc>aTc	p.S15615I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S17256I|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15615	Ig-like 98.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCTAGGCTTGTTCTCAG	0.323																																						ENST00000589042.1																			0				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						c.(51766-51768)aGc>aTc		titin							113	107	109					2																	179474270		1856	4099	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474270C>A	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.46844G>T	2.37:g.179474270C>A	ENSP00000465570:p.Ser15615Ile					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15615I	p.S17256I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	51991	-			15615			Fibronectin type-III 25.		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.51767G>T		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908248	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52468	0.1736	L	0.61036	1.89	0.41827	D	0.99005	P;P;P;P	0.38677	0.642;0.642;0.642;0.642	P;P;P;P	0.48425	0.577;0.577;0.577;0.577	T	0.56147	-0.8027	9	0.87932	D	0	.	13.7731	0.63038	0.0:0.8119:0.1204:0.0677	.	8191;8316;8383;15615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14688;8191;8383;8316;8191	ENSP00000343764:S14688I;ENSP00000434586:S8191I;ENSP00000340554:S8383I;ENSP00000352154:S8316I	ENSP00000340554:S8383I	S	-	2	0	TTN	179182515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.753000	0.94483	0.655000	0.94253	AGC		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		78	399	1	0	1.68136e-41	1	2.04314e-41	78	399					A	179474270	C	A	179474270	3	1	79	1	0	0	0	0	1	0	0	0	16789	797	28	3	56286	3	TTN	2	179474270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4403	179474270	63725103	3175	13492											
TTN	7273	broad.mit.edu	37	chr2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggttcactaatacccgCggcgttctctgctcgcacac	9	14	2	1	rs369150143		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000591111.1	-	222	46983	c.46759G>A	c.(46759-46761)Gcg>Acg	p.A15587T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A17228T|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 13. {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)			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)			CTAATACCCGCGGCGTTCTCT	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(51682-51684)Gcg>Acg		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3743		0,1,1871	228	219	222		24487,43978,24862,25063	5.8	1	2		222	0,8206		0,0,4103	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,5974	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8163/26927,14660/33424,8288/27052,8355/27119	179474468	1,11949	1872	4103	5975	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474468C>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.46759G>A	2.37:g.179474468C>T	ENSP00000465570:p.Ala15587Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A15587T	p.A17228T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	51906	-			15587			Fibronectin type-III 24.		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.51682G>A		.	.	.	.	.	.	.	.	.	.	C	18.09	3.545804	0.65198	2.67E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76285	0.3966	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78091	-0.2339	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8163;8288;8355;15587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14660;8163;8355;8288;8163	ENSP00000343764:A14660T;ENSP00000434586:A8163T;ENSP00000340554:A8355T;ENSP00000352154:A8288T	ENSP00000340554:A8355T	A	-	1	0	TTN	179182713	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GCG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		312	944	0	0	0	1	0	312	944					T	179474468	C	T	179474468	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	56375	1	TTN	2	179474468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	179474468	63724905	3176	13493											
TTN	7273	broad.mit.edu	37	chr2	179474553	179474553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggattggtaccaggtgTtcattgcatctcttccacct	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000591111.1	-	222	46898	c.46674A>G	c.(46672-46674)gaA>gaG	p.E15558E	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.E17199E|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 13. {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)			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)			GTACCAGGTGTTCATTGCATC	0.468																																						ENST00000589042.1																			0				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						c.(51595-51597)gaA>gaG		titin							456	433	440					2																	179474553		1928	4144	6072	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474553T>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.46674A>G	2.37:g.179474553T>C						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.E15558E	p.E17199E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	51821	-			15558			Fibronectin type-III 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.51597A>G																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		208	1990	0	0	0	1	0	208	1990					C	179474553	T	C	179474553	2	2	79	1	0	0	0	0	0	0	0	1	16789	1722	60	4		4	TTN	2	179474553	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85	179474553	63724820	3177	13494											
TTN	7273	broad.mit.edu	37	chr2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgtgagagtcactgCgtctttagtgatatcagaag	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000591111.1	-	213	44697	c.44473G>A	c.(44473-44475)Gca>Aca	p.A14825T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16466T|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14825	Fibronectin type-III 7. {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)			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)			AGAGTCACTGCGTCTTTAGTG	0.428																																						ENST00000589042.1																			0				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						c.(49396-49398)Gca>Aca		titin							171	166	167					2																	179478614		1964	4169	6133	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478614C>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.44473G>A	2.37:g.179478614C>T	ENSP00000465570:p.Ala14825Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14825T	p.A16466T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	49620	-			14825			Fibronectin type-III 19.		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.49396G>A		.	.	.	.	.	.	.	.	.	.	C	14.86	2.660471	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.07	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35799	0.0944	N	0.11106	0.095	0.45502	D	0.998463	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.37220	-0.9715	9	0.87932	D	0	.	12.6162	0.56578	0.3127:0.6873:0.0:0.0	.	7401;7526;7593;14825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13898;7401;7593;7526;7401	ENSP00000343764:A13898T;ENSP00000434586:A7401T;ENSP00000340554:A7593T;ENSP00000352154:A7526T	ENSP00000340554:A7593T	A	-	1	0	TTN	179186859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		165	491	0	0	0	1	0	165	491					T	179478614	C	T	179478614	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	58697	1	TTN	2	179478614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4061	179478614	63720759	3178	13495											
TTN	7273	broad.mit.edu	37	chr2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttaacggacttcctccAtcatcatcaggtggttccca	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000591111.1	-	207	43547	c.43323T>G	c.(43321-43323)gaT>gaG	p.D14441E	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16082E|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14441	Fibronectin type-III 4. {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)			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)			GACTTCCTCCATCATCATCAG	0.423																																						ENST00000589042.1																			0				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						c.(48244-48246)gaT>gaG		titin							164	154	157					2																	179481272		1927	4127	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481272A>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.43323T>G	2.37:g.179481272A>C	ENSP00000465570:p.Asp14441Glu					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14441E	p.D16082E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	48470	-			14441			Ig-like 99.		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.48246T>G		.	.	.	.	.	.	.	.	.	.	A	11.31	1.601281	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	4.75	0.60458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69178	0.3082	M	0.86343	2.81	0.42975	D	0.99444	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.75016	-0.3466	9	0.87932	D	0	.	11.6649	0.51368	0.9305:0.0:0.0695:0.0	.	7017;7142;7209;14441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13514;7017;7209;7142;7017	ENSP00000343764:D13514E;ENSP00000434586:D7017E;ENSP00000340554:D7209E;ENSP00000352154:D7142E	ENSP00000340554:D7209E	D	-	3	2	TTN	179189517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.093000	0.50217	1.061000	0.40601	-0.256000	0.11100	GAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		149	453	0	0	0	1	0	149	453					C	179481272	A	C	179481272	3	2	79	1	0	0	0	0	1	0	0	0	16789	214	8	4	59871	4	TTN	2	179481272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2658	179481272	63718101	3179	13496											
TTN	7273	broad.mit.edu	37	chr2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagaccatctttaaatGcacttaaatccattgttggt	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000591111.1	-	206	43201	c.42977C>T	c.(42976-42978)gCa>gTa	p.A14326V	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A15967V|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14326					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTAAATGCACTTAAATC	0.408																																						ENST00000589042.1																			0				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						c.(47899-47901)gCa>gTa		titin							129	125	126					2																	179481716		1861	4092	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481716G>A	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.42977C>T	2.37:g.179481716G>A	ENSP00000465570:p.Ala14326Val					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14326V	p.A15967V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		256	48124	-			14326			Fibronectin type-III 16.		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.47900C>T		.	.	.	.	.	.	.	.	.	.	G	12.12	1.842310	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.21;0.2;0.21	5.91	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64405	0.2595	M	0.62723	1.935	0.37973	D	0.933336	B;B;B;P	0.35493	0.22;0.22;0.22;0.505	B;B;B;B	0.42319	0.119;0.119;0.207;0.383	T	0.72200	-0.4362	9	0.87932	D	0	.	12.2373	0.54522	0.0:0.0999:0.6366:0.2635	.	6902;7027;7094;14326	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13399;6902;7094;7027;6902	ENSP00000343764:A13399V;ENSP00000434586:A6902V;ENSP00000340554:A7094V;ENSP00000352154:A7027V	ENSP00000340554:A7094V	A	-	2	0	TTN	179189961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	1.483000	0.48342	0.655000	0.94253	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		103	548	0	0	0	1	0	103	548					A	179481716	G	A	179481716	3	1	79	1	0	0	0	0	1	0	0	0	16789	1319	46	2	60221	2	TTN	2	179481716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444	179481716	63717657	3180	13497											
TTN	7273	broad.mit.edu	37	chr2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgcaccagaatgtgacaGatttcttctccattgtttca	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000591111.1	-	198	41254	c.41030C>T	c.(41029-41031)tCt>tTt	p.S13677F	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S15318F|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13677	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGTGACAGATTTCTTCTC	0.358																																						ENST00000589042.1																			0				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						c.(45952-45954)tCt>tTt		titin							92	86	88					2																	179485295		1881	4106	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485295G>A	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.41030C>T	2.37:g.179485295G>A	ENSP00000465570:p.Ser13677Phe					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13677F	p.S15318F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		248	46177	-			13677			Ig-like 97.		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.45953C>T		.	.	.	.	.	.	.	.	.	.	G	13.45	2.240404	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	M	0.65677	2.01	0.44221	D	0.997059	B;B;B;B	0.31274	0.171;0.317;0.317;0.171	B;B;B;B	0.36418	0.09;0.13;0.224;0.207	T	0.56709	-0.7934	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6253;6378;6445;13677	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12750;6253;6445;6378;6253	ENSP00000343764:S12750F;ENSP00000434586:S6253F;ENSP00000340554:S6445F;ENSP00000352154:S6378F	ENSP00000340554:S6445F	S	-	2	0	TTN	179193540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.793000	0.96121	0.563000	0.77884	TCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		87	223	0	0	0	1	0	87	223					A	179485295	G	A	179485295	3	1	79	1	0	0	0	0	1	0	0	0	16789	942	33	2	62200	2	TTN	2	179485295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3579	179485295	63714078	3181	13498											
TTN	7273	broad.mit.edu	37	chr2	179485684	179485684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgttgttccttcaccCgggtgtccttaagaggaact	9	12	1	1	rs548035065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485684C>T	ENST00000591111.1	-	197	40954	c.40730G>A	c.(40729-40731)cGg>cAg	p.R13577Q	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15218Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13577	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTCACCCGGGTGTCCTT	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(45652-45654)cGg>cAg		titin							76	71	73					2																	179485684		1850	4085	5935	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485684C>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.40730G>A	2.37:g.179485684C>T	ENSP00000465570:p.Arg13577Gln					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13577Q	p.R15218Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		247	45877	-			13577			Fibronectin type-III 11.		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.45653G>A		.	.	.	.	.	.	.	.	.	.	C	13.47	2.247307	0.39697	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.83	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41259	0.1151	N	0.04063	-0.285	0.23940	N	0.996405	B;B;B;B	0.13145	0.002;0.002;0.007;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30822	-0.9965	9	0.87932	D	0	.	4.3072	0.10953	0.0:0.5462:0.1731:0.2808	.	6153;6278;6345;13577	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12650;6153;6345;6278;6153	ENSP00000343764:R12650Q;ENSP00000434586:R6153Q;ENSP00000340554:R6345Q;ENSP00000352154:R6278Q	ENSP00000340554:R6345Q	R	-	2	0	TTN	179193929	1.000000	0.71417	0.929000	0.37066	0.997000	0.91878	3.339000	0.52135	0.778000	0.33520	0.655000	0.94253	CGG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	260	0	0	0	1	0	6	260					T	179485684	C	T	179485684	3	4	79	1	0	0	0	0	1	0	0	0	16789	652	23	1	62504	1	TTN	2	179485684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	179485684	63713689	3182	13499											
TTN	7273	broad.mit.edu	37	chr2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtgaggaatttgagcCggattcctatcaagaaaaaa	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000591111.1	-	186	38788	c.38564G>T	c.(38563-38565)cGg>cTg	p.R12855L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R14496L|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12855					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTGAGCCGGATTCCTAT	0.343																																						ENST00000589042.1																			0				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						c.(43486-43488)cGg>cTg		titin							52	46	48					2																	179497134		1828	4072	5900	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497134C>A	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.38564G>T	2.37:g.179497134C>A	ENSP00000465570:p.Arg12855Leu					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12855L	p.R14496L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		236	43711	-			12855			Fibronectin type-III 4.		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.43487G>T		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866084	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86690	0.5993	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.86400	0.1741	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5431;5556;5623;12855	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11928;5431;5623;5556;5431	ENSP00000343764:R11928L;ENSP00000434586:R5431L;ENSP00000340554:R5623L;ENSP00000352154:R5556L	ENSP00000340554:R5623L	R	-	2	0	TTN	179205379	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	7.768000	0.85345	2.902000	0.99343	0.650000	0.86243	CGG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	54	1	0	4.96729e-08	1	5.17613e-08	20	54					A	179497134	C	A	179497134	3	1	79	1	0	0	0	0	1	0	0	0	16789	652	23	3	64714	3	TTN	2	179497134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11450	179497134	63702239	3183	13500											
TTN	7273	broad.mit.edu	37	chr2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtgtttttacaaaacGcacaggaagttctatggaga	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000591111.1	-	176	36642	c.36418C>T	c.(36418-36420)Cgt>Tgt	p.R12140C	TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13781C|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAAAACGCACAGGAAGT	0.358																																						ENST00000589042.1																			0				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						c.(41341-41343)Cgt>Tgt		titin							29	26	27					2																	179500957		1869	4102	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500957G>A	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.36418C>T	2.37:g.179500957G>A	ENSP00000465570:p.Arg12140Cys					TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12140C	p.R13781C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41565	-			12140			Ig-like 94.		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.41341C>T		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901701	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.62	5.62	0.85841	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.57536	1.79	0.50171	D	0.999854	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.55477	-0.8135	9	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	4716;4841;4908;12140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11213;4716;4908;4841;4716	ENSP00000343764:R11213C;ENSP00000434586:R4716C;ENSP00000340554:R4908C;ENSP00000352154:R4841C	ENSP00000340554:R4908C	R	-	1	0	TTN	179209202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.924000	0.70054	2.652000	0.90054	0.585000	0.79938	CGT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	63	0	0	0	1	0	20	63					A	179500957	G	A	179500957	3	1	79	1	0	0	0	0	1	0	0	0	16789	1087	38	1	66900	1	TTN	2	179500957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3823	179500957	63698416	3184	13501											
TTN	7273	broad.mit.edu	37	chr2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgttccggaagtaatttgCgaactttcttttcacctcca	6	11	2	0	rs571348685	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000591111.1	-	169	35803	c.35579G>A	c.(35578-35580)cGc>cAc	p.R11860H	TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000418062.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13501H|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11860	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATTTGCGAACTTTCTT	0.323													C|||	5	0.000998403	0.0	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.0051					ENST00000589042.1																			0				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						c.(40501-40503)cGc>cAc		titin							54	49	51					2																	179507020		1803	4065	5868	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179507020C>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.35579G>A	2.37:g.179507020C>T	ENSP00000465570:p.Arg11860His					TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R11860H	p.R13501H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		219	40726	-			11860			Ig-like 91.		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.40502G>A		.	.	.	.	.	.	.	.	.	.	C	17.90	3.502075	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67345	-0.26;0.17;0.16;0.15	5.55	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59307	0.2184	L	0.46157	1.445	0.36310	D	0.857617	B;B;B;B;B	0.31640	0.014;0.014;0.014;0.014;0.333	B;B;B;B;B	0.25506	0.005;0.005;0.005;0.005;0.061	T	0.67715	-0.5599	9	0.87932	D	0	.	14.1448	0.65344	0.0:0.928:0.0:0.072	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933H;ENSP00000434586:R4436H;ENSP00000340554:R4628H;ENSP00000352154:R4561H	ENSP00000340554:R4628H	R	-	2	0	TTN	179215265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.528000	0.53524	1.344000	0.45657	0.591000	0.81541	CGC		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	45	0	0	0	1	0	6	45					T	179507020	C	T	179507020	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	67767	1	TTN	2	179507020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6063	179507020	63692353	3185	13502											
TTN	7273	broad.mit.edu	37	chr2	179516866	179516866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaggaatagcttcaggCaccttcttttctgggacagc	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000591111.1	-	159	34955	c.34731G>A	c.(34729-34731)gtG>gtA	p.V11577V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.V13084V|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11577	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTTCAGGCACCTTCTTTT	0.348																																						ENST00000589042.1																			0				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						c.(39250-39252)gtG>gtA		titin							107	103	104					2																	179516866		1810	4075	5885	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516866C>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.34731G>A	2.37:g.179516866C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V11577V	p.V13084V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		204	39476	-			11437					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.39252G>A																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		128	459	0	0	0	1	0	128	459					T	179516866	C	T	179516866	2	4	79	1	0	0	0	0	0	0	0	1	16789	697	25	2		2	TTN	2	179516866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9846	179516866	63682507	3186	13503											
TTN	7273	broad.mit.edu	37	chr2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatcgttcatactcccGctcctcgtattcttcatatt	3	13	4	0	rs372118864		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.R9774W(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)			TCATACTCCCGCTCCTCGTAT	0.358																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.R9774W(1)	lung(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						c.(33052-33054)Cgg>Tgg		titin		G	,,,TRP/ARG	0,3780		0,0,1890	299	282	287		,,,29320	4.6	0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG		0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179547466G>A	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.32101C>T	2.37:g.179547466G>A	ENSP00000465570:p.Arg10701Trp					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W	p.R11018W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		135	33276	-			10701			Glu-rich.|Pro-rich.		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.33052C>T		.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		209	715	0	0	0	1	0	209	715					A	179547466	G	A	179547466	3	1	79	1	0	0	0	0	1	0	0	0	16789	1086	38	1	71389	1	TTN	2	179547466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30600	179547466	63651907	3187	13504											
TTN	7273	broad.mit.edu	37	chr2	179567333	179567333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcacactcaaaggtggcaGactgatgctcactcaccacg	8	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179567333G>A	ENST00000591111.1	-	105	29554	c.29330C>T	c.(29329-29331)tCt>tTt	p.S9777F	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10094F|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13855	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGTGGCAGACTGATGCTC	0.408																																						ENST00000589042.1																			0				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						c.(30280-30282)tCt>tTt		titin							160	157	158					2																	179567333		2018	4182	6200	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179567333G>A	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.29330C>T	2.37:g.179567333G>A	ENSP00000465570:p.Ser9777Phe					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9777F	p.S10094F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		107	30505	-			9777			Glu-rich.		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.30281C>T		.	.	.	.	.	.	.	.	.	.	G	17.69	3.451783	0.63290	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88081	0.6341	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89989	0.4106	9	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	9777	Q8WZ42	TITIN_HUMAN	F	8850	ENSP00000343764:S8850F	ENSP00000343764:S8850F	S	-	2	0	TTN	179275578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.704000	0.92352	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	482	0	0	0	1	0	14	482					A	179567333	G	A	179567333	3	1	79	1	0	0	0	0	1	0	0	0	16789	942	33	2	74272	2	TTN	2	179567333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19867	179567333	63632040	3188	13505											
TTN	7273	broad.mit.edu	37	chr2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaccctggtcttctgctcGaacatctgcaatggtcaatt	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000591111.1	-	104	29424	c.29200C>T	c.(29200-29202)Cga>Tga	p.R9734*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R10051*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13812	Ig-like 78.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGCTCGAACATCTGCA	0.423																																						ENST00000589042.1																			0				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						c.(30151-30153)Cga>Tga		titin							233	217	222					2																	179568946		1907	4130	6037	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568946G>A	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.29200C>T	2.37:g.179568946G>A	ENSP00000465570:p.Arg9734*					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*	p.R10051*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30375	-			9734			Glu-rich.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.30151C>T		.	.	.	.	.	.	.	.	.	.	G	60	43.287529	0.99986	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0665	0.64834	0.0:0.0:0.7462:0.2538	.	.	.	.	X	8807	.	ENSP00000343764:R8807X	R	-	1	2	TTN	179277191	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	5.542000	0.67218	2.885000	0.99019	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		192	511	0	0	0	1	0	192	511					A	179568946	G	A	179568946	4	1	79	1	0	0	0	0	0	1	0	0	16789	1066	37	1	74406	1	TTN	2	179568946	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1613	179568946	63630427	3189	13506											
TTN	7273	broad.mit.edu	37	chr2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttatcactgggttccaGtttttcagttcctttgtacc	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000591111.1	-	103	29094	c.28870C>A	c.(28870-28872)Ctg>Atg	p.L9624M	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9941M|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13700					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGTTCCAGTTTTTCAGTT	0.343																																						ENST00000589042.1																			0				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						c.(29821-29823)Ctg>Atg		titin							78	68	71					2																	179569378		1831	4086	5917	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569378G>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.28870C>A	2.37:g.179569378G>T	ENSP00000465570:p.Leu9624Met					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9624M	p.L9941M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	30045	-			9624			Pro-rich.		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.29821C>A		.	.	.	.	.	.	.	.	.	.	G	10.96	1.497968	0.26861	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.93	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82282	0.5003	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83671	0.0166	9	0.87932	D	0	.	9.1462	0.36935	0.2633:0.0:0.7367:0.0	.	9624	Q8WZ42	TITIN_HUMAN	M	8697	ENSP00000343764:L8697M	ENSP00000343764:L8697M	L	-	1	2	TTN	179277623	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.691000	0.54720	1.529000	0.49120	0.655000	0.94253	CTG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	98	1	0	5.4927e-09	1	5.7613e-09	8	98					T	179569378	G	T	179569378	3	4	79	1	0	0	0	0	1	0	0	0	16789	1020	36	3	74740	3	TTN	2	179569378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	179569378	63629995	3190	13507											
TTN	7273	broad.mit.edu	37	chr2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactttctcccaccacaGcatccacaggggcaagacgg	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000591111.1	-	96	27496	c.27272C>A	c.(27271-27273)gCt>gAt	p.A9091D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9408D|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13223	Ig-like 74.				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.A8164V(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)			TCCCACCACAGCATCCACAGG	0.517																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.A8164V(1)	large_intestine(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						c.(28222-28224)gCt>gAt		titin							92	89	90					2																	179575601		2001	4165	6166	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575601G>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.27272C>A	2.37:g.179575601G>T	ENSP00000465570:p.Ala9091Asp					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9091D	p.A9408D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	28447	-			9091			Ig-like 77.		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.28223C>A		.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.86268	2.805	0.80722	D	1	P	0.51933	0.949	P	0.52386	0.697	T	0.78006	-0.2373	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	D	8164	ENSP00000343764:A8164D	ENSP00000343764:A8164D	A	-	2	0	TTN	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	379	1	0	8.77104e-35	1	1.04431e-34	60	379					T	179575601	G	T	179575601	3	4	79	1	0	0	0	0	1	0	0	0	16789	971	34	3	76366	3	TTN	2	179575601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6223	179575601	63623772	3191	13508											
TTN	7273	broad.mit.edu	37	chr2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccttgccagcttcattgCtaactatgcaagtatattct	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000591111.1	-	92	26554	c.26330G>A	c.(26329-26331)aGc>aAc	p.S8777N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094N|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12927	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTCATTGCTAACTATGCA	0.393																																						ENST00000589042.1																			0				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						c.(27280-27282)aGc>aAc		titin							93	90	91					2																	179577471		1906	4119	6025	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577471C>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.26330G>A	2.37:g.179577471C>T	ENSP00000465570:p.Ser8777Asn					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8777N	p.S9094N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	27505	-			8777			Ig-like 74.		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.27281G>A		.	.	.	.	.	.	.	.	.	.	C	9.939	1.217070	0.22373	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.48	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73087	0.3542	M	0.81802	2.56	0.09310	N	0.999999	B	0.25048	0.117	B	0.33196	0.159	T	0.69331	-0.5173	9	0.87932	D	0	.	17.1553	0.86790	0.0:0.5105:0.4895:0.0	.	8777	Q8WZ42	TITIN_HUMAN	N	7850	ENSP00000343764:S7850N	ENSP00000343764:S7850N	S	-	2	0	TTN	179285716	0.000000	0.05858	0.387000	0.26183	0.986000	0.74619	0.215000	0.17562	0.746000	0.32786	0.655000	0.94253	AGC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	279	0	0	0	1	0	53	279					T	179577471	C	T	179577471	3	4	79	1	0	0	0	0	1	0	0	0	16789	797	28	2	77324	2	TTN	2	179577471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1870	179577471	63621902	3192	13509											
TTN	7273	broad.mit.edu	37	chr2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagccctccactatgGcccgtaactcaacagcatcc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000591111.1	-	79	22720	c.22496C>T	c.(22495-22497)gCc>gTc	p.A7499V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7816V|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V			Q8WZ42	TITIN_HUMAN	titin	13055	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACTATGGCCCGTAACTC	0.428																																						ENST00000589042.1																			0				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						c.(23446-23448)gCc>gTc		titin							93	89	90					2																	179584922		1861	4104	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584922G>A	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.22496C>T	2.37:g.179584922G>A	ENSP00000465570:p.Ala7499Val					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7499V	p.A7816V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	23671	-			7499			Ig-like 60.		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.23447C>T		.	.	.	.	.	.	.	.	.	.	G	7.240	0.601000	0.13939	.	.	ENSG00000155657	ENST00000342992	T	0.39056	1.1	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52821	0.1758	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.54346	0.749	T	0.53450	-0.8437	9	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	7499	Q8WZ42	TITIN_HUMAN	V	6572	ENSP00000343764:A6572V	ENSP00000343764:A6572V	A	-	2	0	TTN	179293167	0.198000	0.23374	0.585000	0.28666	0.075000	0.17131	2.688000	0.46984	2.721000	0.93114	0.650000	0.86243	GCC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		77	224	0	0	0	1	0	77	224					A	179584922	G	A	179584922	3	1	79	1	0	0	0	0	1	0	0	0	16789	1203	42	2	81210	2	TTN	2	179584922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7451	179584922	63614451	3193	13510											
TTN	7273	broad.mit.edu	37	chr2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatccttaaggaagagaTtttgttgtagaagctaaatt	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000591111.1	-	70	20277	c.20053A>G	c.(20053-20055)Atc>Gtc	p.I6685V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7002V|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGAAGAGATTTTGTTGTAG	0.443																																						ENST00000589042.1																			0				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						c.(21004-21006)Atc>Gtc		titin							94	90	91					2																	179589098		1896	4122	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589098T>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.20053A>G	2.37:g.179589098T>C	ENSP00000465570:p.Ile6685Val					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6685V	p.I7002V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		72	21228	-			6685					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.21004A>G		.	.	.	.	.	.	.	.	.	.	T	11.39	1.625350	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38719	0.1051	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14643	-1.0465	9	0.87932	D	0	.	7.861	0.29509	0.0:0.6856:0.0:0.3144	.	6685	Q8WZ42	TITIN_HUMAN	V	5758	ENSP00000343764:I5758V	ENSP00000343764:I5758V	I	-	1	0	TTN	179297343	0.965000	0.33210	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.192000	0.20272	-0.274000	0.10170	ATC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		59	280	0	0	0	1	0	59	280					C	179589098	T	C	179589098	3	2	79	1	0	0	0	0	1	0	0	0	16789	1493	52	4	83689	4	TTN	2	179589098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4176	179589098	63610275	3194	13511											
TTN	7273	broad.mit.edu	37	chr2	179593619	179593619	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaatagcttacaaaccTtgtactaaaaggaaagcata	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000591111.1	-	63	18419	c.18195A>C	c.(18193-18195)caA>caC	p.Q6065H	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site_p.Q6382H|TTN_ENST00000342992.6_Splice_Site_p.Q5138H			Q8WZ42	TITIN_HUMAN	titin	12853					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACAAACCTTGTACTAAAA	0.378																																						ENST00000589042.1																			0				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						c.e65+1		titin							72	65	67					2																	179593619		1903	4134	6037	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593619T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18196+1A>C	2.37:g.179593619T>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site_p.Q6065_splice	p.Q6382_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	19370	-			6065			Ig-like 45.		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	Splice_Site	SNP	ENST00000591111.1	37	c.19147_splice		.	.	.	.	.	.	.	.	.	.	T	12.02	1.811439	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55752	0.1940	L	0.43757	1.38	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.58364	-0.7649	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6065	Q8WZ42	TITIN_HUMAN	H	5138	ENSP00000343764:Q5138H	ENSP00000343764:Q5138H	Q	-	3	2	TTN	179301864	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	CAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	60	148	0	0	0	1	0	60	148					G	179593619	T	G	179593619	5	3	79	1	0	0	0	0	0	0	1	0	16789	1623	56	4	85575	4	TTN	2	179593619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4521	179593619	63605754	3195	13512											
TTN	7273	broad.mit.edu	37	chr2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgaataaaatttgaGctgggcaacattgtttttaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000591111.1	-	52	15225	c.15001C>A	c.(15001-15003)Ctc>Atc	p.L5001I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5318I|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I			Q8WZ42	TITIN_HUMAN	titin	12380	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)			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)			TAAAATTTGAGCTGGGCAACA	0.448																																						ENST00000589042.1																			0				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						c.(15952-15954)Ctc>Atc		titin							89	86	87					2																	179598068		1836	4096	5932	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598068G>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.15001C>A	2.37:g.179598068G>T	ENSP00000465570:p.Leu5001Ile					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L5001I	p.L5318I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	16176	-			5001					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.15952C>A		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872505	0.33069	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85927	0.5811	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.88744	0.3245	9	0.87932	D	0	.	14.3531	0.66716	0.0704:0.0:0.9296:0.0	.	5001	Q8WZ42	TITIN_HUMAN	I	4074	ENSP00000343764:L4074I	ENSP00000343764:L4074I	L	-	1	0	TTN	179306313	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	2.844000	0.48246	2.765000	0.95021	0.655000	0.94253	CTC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	419	1	0	7.07328e-35	1	8.4269e-35	76	419					T	179598068	G	T	179598068	3	4	79	1	0	0	0	0	1	0	0	0	16789	971	34	3	88813	3	TTN	2	179598068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4449	179598068	63601305	3196	13513											
TTN	7273	broad.mit.edu	37	chr2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccccaacagatgtttggCttccagcttcattttcagcc	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000591111.1	-	51	15016	c.14792G>A	c.(14791-14793)aGc>aAc	p.S4931N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S5248N|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N			Q8WZ42	TITIN_HUMAN	titin	12315	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGTTTGGCTTCCAGCTTC	0.363																																						ENST00000589042.1																			0				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						c.(15742-15744)aGc>aAc		titin							116	113	114					2																	179598373		1853	4090	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598373C>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.14792G>A	2.37:g.179598373C>T	ENSP00000465570:p.Ser4931Asn					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4931N	p.S5248N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15967	-			4931			Ig-like 33.		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.15743G>A		.	.	.	.	.	.	.	.	.	.	C	12.84	2.057724	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71333	0.3327	L	0.53561	1.675	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.73914	-0.3832	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	4931	Q8WZ42	TITIN_HUMAN	N	4004	ENSP00000343764:S4004N	ENSP00000343764:S4004N	S	-	2	0	TTN	179306618	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.024000	0.49674	2.836000	0.97738	0.655000	0.94253	AGC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		159	434	0	0	0	1	0	159	434					T	179598373	C	T	179598373	3	4	79	1	0	0	0	0	1	0	0	0	16789	797	28	2	89026	2	TTN	2	179598373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	179598373	63601000	3197	13514											
TTN	7273	broad.mit.edu	37	chr2	179598615	179598615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttctttacaaaggttggAggttctagttaaggaaagag	11	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000591111.1	-	51	14774	c.14550T>C	c.(14548-14550)ccT>ccC	p.P4850P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.P5167P|TTN_ENST00000342992.6_Silent_p.P3923P			Q8WZ42	TITIN_HUMAN	titin	12233					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGGTTGGAGGTTCTAGTT	0.368																																						ENST00000589042.1																			0				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						c.(15499-15501)ccT>ccC		titin							50	48	48					2																	179598615		1869	4102	5971	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598615A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14550T>C	2.37:g.179598615A>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P3923P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P4850P	p.P5167P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15725	-			4850			Ig-like 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15501T>C																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	191	0	0	0	1	0	73	191					G	179598615	A	G	179598615	2	3	79	1	0	0	0	0	0	0	0	1	16789	291	11	4		4	TTN	2	179598615	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242	179598615	63600758	3198	13515											
TTN	7273	broad.mit.edu	37	chr2	179604158	179604158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggggccatcctctttgAttaagccaccctcagcttcc	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179604158A>G	ENST00000591111.1	-	46	13075	c.12851T>C	c.(12850-12852)aTc>aCc	p.I4284T	TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I4601T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	32497					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTCTTTGATTAAGCCACC	0.438																																						ENST00000589042.1																			0				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						c.(13801-13803)aTc>aCc		titin							133	124	127					2																	179604158		1952	4150	6102	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604158A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12851T>C	2.37:g.179604158A>G	ENSP00000465570:p.Ile4284Thr					TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000591111.1_Missense_Mutation_p.I4284T|TTN-AS1_ENST00000590773.1_RNA	p.I4601T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	14026	-			4284			Ig-like 26.		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.13802T>C		.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694352	0.03303	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61274	0.16;0.13;0.12	5.65	-2.18	0.07037	.	.	.	.	.	T	0.24736	0.0600	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15292	-1.0442	9	0.87932	D	0	.	2.8061	0.05428	0.2567:0.2422:0.392:0.1091	.	4238;4363;4430	D3DPF9;E7EQE6;E7ET18	.;.;.	T	4238;4430;4363;4238	ENSP00000434586:I4238T;ENSP00000340554:I4430T;ENSP00000352154:I4363T	ENSP00000340554:I4430T	I	-	2	0	TTN	179312403	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.167000	0.09940	-0.296000	0.08947	0.533000	0.62120	ATC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	378	0	0	0	1	0	9	378					G	179604158	A	G	179604158	3	3	79	1	0	0	0	0	1	0	0	0	16789	333	12	4	90987	4	TTN	2	179604158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5543	179604158	63595215	3199	13516											
TTN	7273	broad.mit.edu	37	chr2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaggaagtgaggaggacaaGgacctcccagcttttccaga	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000591111.1	-	46	11077	c.10853C>A	c.(10852-10854)cCt>cAt	p.P3618H	TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P3935H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13924					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGACAAGGACCTCCCAG	0.458																																						ENST00000589042.1																			0				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						c.(11803-11805)cCt>cAt		titin							162	157	159					2																	179606156		1919	4120	6039	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606156G>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.10853C>A	2.37:g.179606156G>T	ENSP00000465570:p.Pro3618His					TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000591111.1_Missense_Mutation_p.P3618H|TTN-AS1_ENST00000590773.1_RNA	p.P3935H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12028	-			3618					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.11804C>A		.	.	.	.	.	.	.	.	.	.	G	9.504	1.103928	0.20632	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.15;0.09;0.08	5.87	5.87	0.94306	.	.	.	.	.	T	0.53562	0.1804	L	0.49126	1.545	0.27352	N	0.956201	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.49862	-0.8894	9	0.87932	D	0	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	3572;3697;3764	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3572;3764;3697;3572	ENSP00000434586:P3572H;ENSP00000340554:P3764H;ENSP00000352154:P3697H	ENSP00000340554:P3764H	P	-	2	0	TTN	179314401	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CCT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		126	718	1	0	2.98534e-63	1	3.76712e-63	126	718					T	179606156	G	T	179606156	3	4	79	1	0	0	0	0	1	0	0	0	16789	1000	35	3	92985	3	TTN	2	179606156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	179606156	63593217	3200	13517											
TTN	7273	broad.mit.edu	37	chr2	179610329	179610329	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaagttaaggtgagtgCtgcaaagctctcagccattc	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179610329C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A5600T			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGAGTGCTGCAAAGCTC	0.353																																						ENST00000360870.5																			0				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						c.(16798-16800)Gca>Aca		titin							75	70	71					2																	179610329		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610329C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3681G>A	2.37:g.179610329C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.A5600T	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	17020	-			9070					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.16798G>A		.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542653	0.04053	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.65364	-0.15	6.04	-3.44	0.04796	.	.	.	.	.	T	0.26666	0.0652	N	0.02169	-0.655	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24799	-1.0150	9	0.12766	T	0.61	.	6.2447	0.20810	0.2474:0.277:0.0:0.4756	.	5600	Q8WZ42-6	.	T	5600;881	ENSP00000354117:A5600T	ENSP00000304714:A881T	A	-	1	0	TTN	179318574	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.205000	0.09411	-0.569000	0.06030	-0.251000	0.11542	GCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	292	0	0	0	1	0	20	292					T	179610329	C	T	179610329	1	4	79	0	1	0	0	0	0	0	0	0	16789	797	28	2		2	TTN	2	179610329	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4173	179610329	63589044	3201	13518											
TTN	7273	broad.mit.edu	37	chr2	179612429	179612429	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttagggaggtctcagattCtgctgcctcagtggtatgtg	14	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612429C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.E4900*			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCAGATTCTGCTGCCTCA	0.413																																						ENST00000360870.5																			0				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						c.(14698-14700)Gaa>Taa		titin							68	69	69					2																	179612429		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612429C>A	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.10360+5421G>T	2.37:g.179612429C>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E4900*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14920	-			1023			Ig-like 29.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.14698G>T		.	.	.	.	.	.	.	.	.	.	C	55	24.574007	0.99961	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.43835	D	0.99641	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.9423	0.58352	0.0:0.9241:0.0:0.0759	.	.	.	.	X	4900;214	.	ENSP00000304714:E214X	E	-	1	0	TTN	179320674	0.048000	0.20356	0.003000	0.11579	0.122000	0.20287	1.568000	0.36418	1.561000	0.49584	0.650000	0.86243	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		100	285	1	0	1.43697e-34	1	1.7097e-34	100	285					A	179612429	C	A	179612429	1	1	79	0	1	0	0	0	0	0	0	0	16789	922	32	3		3	TTN	2	179612429	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2100	179612429	63586944	3202	13519											
TTN	7273	broad.mit.edu	37	chr2	179612581	179612581	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggcatgaatgtttGtacttatttgttcacctgga	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612581G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4849I			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAATGTTTGTACTTATTTG	0.403																																						ENST00000360870.5																			0				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						c.(14545-14547)aCa>aTa		titin							52	51	52					2																	179612581		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612581G>A	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.10360+5269C>T	2.37:g.179612581G>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T4849I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14768	-			962					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.14546C>T		.	.	.	.	.	.	.	.	.	.	G	12.56	1.973168	0.34848	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57273	0.41	6.05	-0.825	0.10809	.	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17623	-1.0363	9	0.66056	D	0.02	.	2.4883	0.04604	0.1071:0.2171:0.3843:0.2915	.	4849	Q8WZ42-6	.	I	4849;163	ENSP00000354117:T4849I	ENSP00000304714:T163I	T	-	2	0	TTN	179320826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.052000	0.13311	-0.995000	0.02519	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		90	220	0	0	0	1	0	90	220					A	179612581	G	A	179612581	1	1	79	0	1	0	0	0	0	0	0	0	16789	1377	48	2		2	TTN	2	179612581	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	179612581	63586792	3203	13520											
TTN	7273	broad.mit.edu	37	chr2	179613691	179613691	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggattaacaattgatgttCtggtaggtcttttttctaga	10	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179613691C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R4479K			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGATGTTCTGGTAGGTCT	0.333																																						ENST00000360870.5																			0				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						c.(13435-13437)aGa>aAa		titin							87	89	88					2																	179613691		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613691C>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.10360+4159G>A	2.37:g.179613691C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.R4479K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13658	-			609			Ig-like 25.		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.13436G>A		.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515402	0.04200	.	.	ENSG00000155657	ENST00000360870	T	0.54279	0.58	6.04	-0.195	0.13236	.	.	.	.	.	T	0.24774	0.0601	N	0.04508	-0.205	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	9	0.02654	T	1	.	12.2414	0.54544	0.0:0.2961:0.0:0.7039	.	4479	Q8WZ42-6	.	K	4479	ENSP00000354117:R4479K	ENSP00000354117:R4479K	R	-	2	0	TTN	179321936	0.068000	0.21057	0.269000	0.24586	0.141000	0.21300	0.383000	0.20651	-0.219000	0.10003	-0.251000	0.11542	AGA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	320	0	0	0	1	0	64	320					T	179613691	C	T	179613691	1	4	79	0	1	0	0	0	0	0	0	0	16789	913	32	2		2	TTN	2	179613691	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1110	179613691	63585682	3204	13521											
TTN	7273	broad.mit.edu	37	chr2	179615383	179615383	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggttttgaattcatcaattCgtgtagaagcagagagttgt	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179615383C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R3915Q			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCAATTCGTGTAGAAGC	0.338																																						ENST00000360870.5																			0				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						c.(11743-11745)cGa>cAa		titin							57	59	58					2																	179615383		2201	4297	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615383C>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.10360+2467G>A	2.37:g.179615383C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.R3915Q	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11966	-			9735					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.11744G>A		.	.	.	.	.	.	.	.	.	.	T	10.49	1.365779	0.24684	.	.	ENSG00000155657	ENST00000360870	T	0.56776	0.44	5.55	4.35	0.52113	.	.	.	.	.	T	0.26738	0.0654	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.26326	-1.0106	9	0.13108	T	0.6	.	4.4553	0.11640	0.141:0.1711:0.0:0.6879	.	3915	Q8WZ42-6	.	Q	3915	ENSP00000354117:R3915Q	ENSP00000354117:R3915Q	R	-	2	0	TTN	179323628	0.022000	0.18835	0.001000	0.08648	0.028000	0.11728	2.154000	0.42291	0.434000	0.26340	-0.254000	0.11334	CGA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	171	0	0	0	1	0	33	171					T	179615383	C	T	179615383	1	4	79	0	1	0	0	0	0	0	0	0	16789	884	31	1		1	TTN	2	179615383	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1692	179615383	63583990	3205	13522											
TTN	7273	broad.mit.edu	37	chr2	179616305	179616305	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgctcttttcagaaattCtaaatatttctcatcttgcc	3	10	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616305C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.E3608*			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGAAATTCTAAATATTTC	0.393																																						ENST00000360870.5																			0				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						c.(10822-10824)Gaa>Taa		titin							130	134	133					2																	179616305		2199	4297	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616305C>A	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.10360+1545G>T	2.37:g.179616305C>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E3608*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11044	-			3603					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.10822G>T		.	.	.	.	.	.	.	.	.	.	C	52	18.901835	0.99912	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	.	.	.	X	3608	.	ENSP00000354117:E3608X	E	-	1	0	TTN	179324550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.238000	0.43070	2.780000	0.95670	0.655000	0.94253	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		151	698	1	0	1.74067e-55	1	2.17579e-55	151	698					A	179616305	C	A	179616305	1	1	79	0	1	0	0	0	0	0	0	0	16789	922	32	3		3	TTN	2	179616305	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922	179616305	63583068	3206	13523											
TTN	7273	broad.mit.edu	37	chr2	179616447	179616447	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctaagctggaagagtgAtggtgtaaatcactctcagc	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616447A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.H3560H			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGAGTGATGGTGTAAAT	0.413																																						ENST00000360870.5																			0				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						c.(10678-10680)caT>caC		titin							76	78	77					2																	179616447		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616447A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1403T>C	2.37:g.179616447A>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.H3560H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10902	-			3558			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10680T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		98	446	0	0	0	1	0	98	446					G	179616447	A	G	179616447	1	3	79	0	1	0	0	0	0	0	0	0	16789	330	12	4		4	TTN	2	179616447	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	179616447	63582926	3207	13524											
TTN	7273	broad.mit.edu	37	chr2	179621175	179621175	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacagaggaattgagcCgtgtcaccgcactttacagt	9	10	1	2	rs566456478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179621175C>T	ENST00000591111.1	-	44	10528				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T3505T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.T3676T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATTGAGCCGTGTCACCGC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21903	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				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						c.(11026-11028)acG>acA		titin							89	86	87					2																	179621175		1921	4117	6038	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621175C>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.10303+2535G>A	2.37:g.179621175C>T						TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Silent_p.T3505T|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T3676T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11252	-			3361			Ig-like 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11028G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	210	0	0	0	1	0	66	210					T	179621175	C	T	179621175	1	4	79	0	1	0	0	0	0	0	0	0	16789	639	23	1		1	TTN	2	179621175	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	179621175	63578198	3208	13525											
TTN	7273	broad.mit.edu	37	chr2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctcagagataaacattCggtggattcttctttccact	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000591111.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q			Q8WZ42	TITIN_HUMAN	titin	13534					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAAACATTCGGTGGATTCT	0.418																																						ENST00000589042.1																			0				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						c.(9610-9612)cGa>cAa		titin							175	162	166					2																	179631200		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631200C>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.9611G>A	2.37:g.179631200C>T	ENSP00000465570:p.Arg3204Gln					TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000591111.1_Missense_Mutation_p.R3204Q	p.R3204Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9835	-			2937					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.9611G>A		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	TTN	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		91	506	0	0	0	1	0	91	506					T	179631200	C	T	179631200	3	4	79	1	0	0	0	0	1	0	0	0	16789	884	31	1	101665	1	TTN	2	179631200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10025	179631200	63568173	3209	13526											
TTN	7273	broad.mit.edu	37	chr2	179636087	179636087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcagtggtaggtgtttgCcatccctcaaccattcgcct	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179636087C>T	ENST00000591111.1	-	34	8191	c.7967G>A	c.(7966-7968)gGc>gAc	p.G2656D	TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000360870.5_Missense_Mutation_p.G2656D			Q8WZ42	TITIN_HUMAN	titin	12981	Ig-like 15.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGTTTGCCATCCCTCAA	0.458																																						ENST00000589042.1																			0				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						c.(7966-7968)gGc>gAc		titin							226	175	192					2																	179636087		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179636087C>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.7967G>A	2.37:g.179636087C>T	ENSP00000465570:p.Gly2656Asp					TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000591111.1_Missense_Mutation_p.G2656D	p.G2656D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		34	8191	-			2392			Ig-like 15.		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.7967G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043155	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19525	0.0469	M	0.80183	2.485	0.41668	D	0.989228	B;B;B;B;P	0.37573	0.315;0.315;0.315;0.315;0.6	B;B;B;B;B	0.42319	0.214;0.214;0.214;0.214;0.383	T	0.01356	-1.1376	9	0.87932	D	0	.	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	2610;2610;2610;2656;2656	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2656;2610;2610;2610;2610;2656	ENSP00000343764:G2656D;ENSP00000434586:G2610D;ENSP00000340554:G2610D;ENSP00000352154:G2610D;ENSP00000354117:G2656D	ENSP00000340554:G2610D	G	-	2	0	TTN	179344332	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.087000	0.71362	1.631000	0.50456	0.655000	0.94253	GGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	338	0	0	0	1	0	8	338					T	179636087	C	T	179636087	3	4	79	1	0	0	0	0	1	0	0	0	16789	739	26	2	103337	2	TTN	2	179636087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4887	179636087	63563286	3210	13527											
TTN	7273	broad.mit.edu	37	chr2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgatgacaaagctgtattctCcctggtcctccttggttaca	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATTCTCCCTGGTCCTC	0.438																																						ENST00000589042.1																			0				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						c.(7000-7002)gGa>gTa		titin							152	139	143					2																	179638990		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638990C>A	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.7001G>T	2.37:g.179638990C>A	ENSP00000465570:p.Gly2334Val					TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2334V	p.G2334V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7225	-			2051			Ig-like 12.		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.7001G>T		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		134	428	1	0	3.75716e-53	1	4.6801e-53	134	428					A	179638990	C	A	179638990	3	1	79	1	0	0	0	0	1	0	0	0	16789	855	30	3	104319	3	TTN	2	179638990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	179638990	63560383	3211	13528											
TTN	7273	broad.mit.edu	37	chr2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacttgagctccacagCggtaatggcttcataatagc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000591111.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2015T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2015T			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCCACAGCGGTAATGGCT	0.453																																						ENST00000589042.1																			0				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						c.(6043-6045)Gct>Act		titin							129	135	133					2																	179640548		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640548C>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.6043G>A	2.37:g.179640548C>T	ENSP00000465570:p.Ala2015Thr					TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000591111.1_Missense_Mutation_p.A2015T	p.A2015T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6267	-			1777					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.6043G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.907980	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.15;0.13;0.12;0.29	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.71676	0.3368	L	0.32530	0.975	0.33807	D	0.627368	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	P;P;P;P;D	0.71414	0.603;0.603;0.603;0.603;0.973	T	0.79699	-0.1694	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1969;1969;1969;2015;2015	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2015;1969;1969;1969;1969;2015	ENSP00000343764:A2015T;ENSP00000434586:A1969T;ENSP00000340554:A1969T;ENSP00000352154:A1969T;ENSP00000354117:A2015T	ENSP00000340554:A1969T	A	-	1	0	TTN	179348793	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.837000	0.69381	2.387000	0.81309	0.609000	0.83330	GCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		151	772	0	0	0	1	0	151	772					T	179640548	C	T	179640548	3	4	79	1	0	0	0	0	1	0	0	0	16789	768	27	1	105285	1	TTN	2	179640548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1558	179640548	63558825	3212	13529											
TTN	7273	broad.mit.edu	37	chr2	179647028	179647028	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcatccaaacaccacgctCccaccttccaccagtttctg	5	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000591111.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000589042.1_Silent_p.G1097G|TTN_ENST00000342992.6_Silent_p.G1097G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.G1097G			Q8WZ42	TITIN_HUMAN	titin	33316	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCACGCTCCCACCTTCCA	0.498																																						ENST00000589042.1																			0				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						c.(3289-3291)ggG>ggT		titin							76	74	75					2																	179647028		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647028C>A	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.3291G>T	2.37:g.179647028C>A						TTN_ENST00000360870.5_Silent_p.G1097G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000591111.1_Silent_p.G1097G	p.G1097G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		20	3515	-			1097			Ig-like 4.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3291G>T																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		70	330	1	0	1.26778e-28	1	1.47706e-28	70	330					A	179647028	C	A	179647028	2	1	79	1	0	0	0	0	0	0	0	1	16789	842	30	3		3	TTN	2	179647028	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6480	179647028	63552345	3213	13530											
TTN	7273	broad.mit.edu	37	chr2	179647624	179647624	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttccgcaaatgcttcGcgaatcataagacgagcaat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000591111.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000589042.1_Silent_p.R1003R|TTN_ENST00000342992.6_Silent_p.R1003R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.R1003R			Q8WZ42	TITIN_HUMAN	titin	32556	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATGCTTCGCGAATCATAA	0.502																																						ENST00000589042.1																			0				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						c.(3007-3009)cgC>cgA		titin							97	92	94					2																	179647624		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647624G>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.3009C>A	2.37:g.179647624G>T						TTN_ENST00000360870.5_Silent_p.R1003R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000591111.1_Silent_p.R1003R	p.R1003R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3233	-			1003			Ig-like 3.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3009C>A																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	368	1	0	7.92952e-12	1	8.47903e-12	26	368					T	179647624	G	T	179647624	2	4	79	1	0	0	0	0	0	0	0	1	16789	1074	38	3		3	TTN	2	179647624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	179647624	63551749	3214	13531											
TTN	7273	broad.mit.edu	37	chr2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatagtttctctagttcTcagtattgtttcttgttctt	6	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000591111.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000589042.1_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TCTCTAGTTCTCAGTATTGTT	0.368																																						ENST00000589042.1																			0				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						c.(2020-2022)Aga>Gga		titin							189	181	183					2																	179654143		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654143T>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.2020A>G	2.37:g.179654143T>C	ENSP00000465570:p.Arg674Gly					TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000591111.1_Missense_Mutation_p.R674G	p.R674G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2244	-			674					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.2020A>G		.	.	.	.	.	.	.	.	.	.	T	12.20	1.866839	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.9	5.9	0.94986	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45438	0.1342	L	0.58810	1.83	0.23657	N	0.997182	B;B;B;B;B	0.21606	0.001;0.001;0.001;0.001;0.058	B;B;B;B;B	0.18561	0.007;0.007;0.007;0.007;0.022	T	0.44251	-0.9340	9	0.87932	D	0	.	10.0642	0.42292	0.0:0.0751:0.0:0.9249	.	628;628;628;674;674	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	674;628;628;628;628;674;178	ENSP00000343764:R674G;ENSP00000434586:R628G;ENSP00000340554:R628G;ENSP00000352154:R628G;ENSP00000354117:R674G;ENSP00000405517:R178G	ENSP00000340554:R628G	R	-	1	2	TTN	179362388	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.266000	0.75297	0.528000	0.53228	AGA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	440	0	0	0	1	0	79	440					C	179654143	T	C	179654143	3	2	79	1	0	0	0	0	1	0	0	0	16789	1559	54	4	109368	4	TTN	2	179654143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6519	179654143	63545230	3215	13532											
CCDC141	285025	broad.mit.edu	37	chr2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgcttttaatctcttctCgaggaaccatttgcctctga	7	10	3	1	rs368802405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000420890.2	-	23	4283	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1389										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)			AATCTCTTCTCGAGGAACCAT	0.498																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4165-4167)cGa>cAa		coiled-coil domain containing 141							53	55	54					2																	179701780		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179701780C>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	ENST00000420890.2:c.4166G>A	2.37:g.179701780C>T	ENSP00000395995:p.Arg1389Gln					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	p.R1389Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	4283	-			814					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.4166G>A		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680651	0.14907	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46063	0.88;1.54;1.54	6.17	-12.3	0.00002	.	1.416120	0.04518	N	0.384078	T	0.18759	0.0450	N	0.13235	0.315	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.29579	-1.0007	10	0.02654	T	1	5.3443	13.1713	0.59599	0.0:0.6227:0.1503:0.227	.	814;814	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Q	1389;833;814	ENSP00000395995:R1389Q;ENSP00000344627:R833Q;ENSP00000295723:R814Q	ENSP00000295723:R814Q	R	-	2	0	CCDC141	179410025	0.001000	0.12720	0.001000	0.08648	0.189000	0.23516	-2.550000	0.00929	-2.824000	0.00342	-0.982000	0.02568	CGA		0.498	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		56	166	0	0	0	1	0	56	166					T	179701780	C	T	179701780	3	4	79	1	0	0	0	0	1	0	0	0	2782	884	31	1	190	1	CCDC141	2	179701780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	179701780	63497593	3216	13533											
CCDC141	285025	broad.mit.edu	37	chr2	179701839	179701839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattgaaacctgaggcccgaGaatgcatcagaggaagcatg	13	8	1	4	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	ENST00000420890.2	-	23	4224	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1369										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)			TGAGGCCCGAGAATGCATCAG	0.488																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4105-4107)ttC>ttT		coiled-coil domain containing 141							42	43	42					2																	179701839		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179701839G>A	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	ENST00000420890.2:c.4107C>T	2.37:g.179701839G>A						CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	p.F1369F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	4224	-			794					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.4107C>T																																																																																					0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		56	152	0	0	0	1	0	56	152					A	179701839	G	A	179701839	2	1	79	1	0	0	0	0	0	0	0	1	2782	933	33	2		2	CCDC141	2	179701839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	179701839	63497534	3217	13534											
CCDC141	285025	broad.mit.edu	37	chr2	179714776	179714776	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaggaagaagaaattacCttcagtttttcttcgagctc	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1119										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)			AAGAAATTACCTTCAGTTTTT	0.313																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.e21+1		coiled-coil domain containing 141							81	82	82					2																	179714776		2203	4300	6503	SO:0001630	splice_region_variant	285025						protein binding	g.chr2:179714776C>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	ENST00000420890.2:c.3357+1G>A	2.37:g.179714776C>T						CCDC141_ENST00000295723.5_Splice_Site_p.K544_splice	p.K1119_splice	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		21	3474	-			544					H7C0P1|J3KNW6|Q8N8H3	Splice_Site	SNP	ENST00000420890.2	37	c.3357_splice																																																																																					0.313	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	Silent	53	282	0	0	0	1	0	53	282					T	179714776	C	T	179714776	5	4	79	1	0	0	0	0	0	0	1	0	2782	695	24	2	1007	2	CCDC141	2	179714776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12937	179714776	63484597	3218	13535											
CCDC141	285025	broad.mit.edu	37	chr2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaaaaagagaatacctcttCtatcacctcctggaaatgct	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1019										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)			AATACCTCTTCTATCACCTCC	0.353																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3055-3057)Gaa>Aaa		coiled-coil domain containing 141							104	94	97					2																	179720079		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720079C>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	ENST00000420890.2:c.3055G>A	2.37:g.179720079C>T	ENSP00000395995:p.Glu1019Lys					CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	p.E1019K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		19	3172	-			444					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3055G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470620	0.84533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000061	T	0.44414	0.1292	L	0.34521	1.04	0.35372	D	0.789158	D	0.65815	0.995	P	0.60173	0.87	T	0.52487	-0.8569	10	0.42905	T	0.14	-26.2853	14.1615	0.65450	0.0:0.9256:0.0:0.0744	.	444	Q6ZP82	CC141_HUMAN	K	1019;463;444	ENSP00000395995:E1019K;ENSP00000344627:E463K;ENSP00000295723:E444K	ENSP00000295723:E444K	E	-	1	0	CCDC141	179428324	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	3.896000	0.56266	2.518000	0.84900	0.655000	0.94253	GAA		0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		39	315	0	0	0	1	0	39	315					T	179720079	C	T	179720079	3	4	79	1	0	0	0	0	1	0	0	0	2782	922	32	2	1317	2	CCDC141	2	179720079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5303	179720079	63479294	3219	13536											
CCDC141	285025	broad.mit.edu	37	chr2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagctgctgctgtaggttCtttgcagaaacattagagca	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	866										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)			GCTGTAGGTTCTTTGCAGAAA	0.478																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2596-2598)aaG>aaT		coiled-coil domain containing 141							176	170	172					2																	179730620		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730620C>A	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	ENST00000420890.2:c.2598G>T	2.37:g.179730620C>A	ENSP00000395995:p.Lys866Asn					CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	p.K866N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2715	-			291			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2598G>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078922	0.76528	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.50277	0.75;1.34;1.34;1.3	6.07	5.19	0.71726	.	0.095181	0.45361	D	0.000364	T	0.56558	0.1993	L	0.34521	1.04	0.31795	N	0.629176	D	0.76494	0.999	D	0.68192	0.956	T	0.62690	-0.6801	10	0.36615	T	0.2	-13.9934	15.2563	0.73588	0.0:0.933:0.0:0.067	.	291	Q6ZP82	CC141_HUMAN	N	866;310;291;866	ENSP00000395995:K866N;ENSP00000344627:K310N;ENSP00000295723:K291N;ENSP00000390190:K866N	ENSP00000295723:K291N	K	-	3	2	CCDC141	179438865	1.000000	0.71417	0.953000	0.39169	0.600000	0.36913	2.727000	0.47311	1.572000	0.49736	0.650000	0.86243	AAG		0.478	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		175	854	1	0	3.52614e-80	1	4.50875e-80	175	854					A	179730620	C	A	179730620	3	1	79	1	0	0	0	0	1	0	0	0	2782	912	32	3	1782	3	CCDC141	2	179730620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10541	179730620	63468753	3220	13537											
CCDC141	285025	broad.mit.edu	37	chr2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaagctgccatgccagccGaaggaggctaagttcttccc	10	12	1	0	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	667										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)			CATGCCAGCCGAAGGAGGCTA	0.468																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(1999-2001)Cgg>Tgg		coiled-coil domain containing 141		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	145	122	130		1999	2.3	0.3	2	dbSNP_134	130	0,8600		0,0,4300	no	missense	CCDC141	NM_173648.3	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	667/1531	179736940	3,13003	2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736940G>A	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	ENST00000420890.2:c.1999C>T	2.37:g.179736940G>A	ENSP00000395995:p.Arg667Trp					CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	p.R667W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2116	-			92					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1999C>T		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170634	0.38315	6.81E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.44482	0.92;1.53;1.53;1.53	5.51	2.32	0.28847	.	0.306192	0.23682	N	0.045611	T	0.21267	0.0512	N	0.14661	0.345	0.26784	N	0.969549	B	0.20459	0.045	B	0.15052	0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-3.0752	5.5109	0.16880	0.3894:0.0:0.6106:0.0	.	92	Q6ZP82	CC141_HUMAN	W	667;111;92;667;602	ENSP00000395995:R667W;ENSP00000344627:R111W;ENSP00000295723:R92W;ENSP00000390190:R667W	ENSP00000295723:R92W	R	-	1	2	CCDC141	179445185	0.574000	0.26684	0.278000	0.24718	0.823000	0.46562	0.882000	0.28186	0.684000	0.31448	-0.259000	0.10710	CGG		0.468	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		71	365	0	0	0	1	0	71	365					A	179736940	G	A	179736940	3	1	79	1	0	0	0	0	1	0	0	0	2782	1057	37	1	2397	1	CCDC141	2	179736940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6320	179736940	63462433	3221	13538											
ZNF385B	151126	broad.mit.edu	37	chr2	180307983	180307983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttgcagacgttagtaCggagcaaagaggatggaggc	18	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P470P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			1	Substitution - coding silent(1)	p.P470P(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1408-1410)ccG>ccA		zinc finger protein 385B							33	38	36					2																	180307983		2203	4299	6502	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180307983C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1410G>A	2.37:g.180307983C>T						ZNF385B_ENST00000336917.5_Silent_p.P368P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P	p.P470P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	2013	-			470					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1410G>A	CCDS33339.1																																																																																				0.552	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		68	192	0	0	0	1	0	68	192					T	180307983	C	T	180307983	2	4	79	1	0	0	0	0	0	0	0	1	17930	523	19	1		1	ZNF385B	2	180307983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571043	180307983	62891390	3222	13539											
ZNF385B	151126	broad.mit.edu	37	chr2	180308082	180308082	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaagagcgaggcagaGggccggggtgggagtgacag	22	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000336917.5_Silent_p.P335P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	437	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGAGGCAGAGGGCCGGGGTG	0.642																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1309-1311)ccC>ccA		zinc finger protein 385B							26	35	32					2																	180308082		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180308082G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1311C>A	2.37:g.180308082G>T						ZNF385B_ENST00000336917.5_Silent_p.P335P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000409343.1_Silent_p.P361P	p.P437P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	1914	-			437					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1311C>A	CCDS33339.1																																																																																				0.642	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		24	152	1	0	3.08376e-08	1	3.21767e-08	24	152					T	180308082	G	T	180308082	2	4	79	1	0	0	0	0	0	0	0	1	17930	987	35	3		3	ZNF385B	2	180308082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	180308082	62891291	3223	13540											
ZNF385B	151126	broad.mit.edu	37	chr2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattggaccagccccattaCgagcttcaaccatggtcttg	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	316	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGCCCCATTACGAGCTTCAAC	0.378																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(946-948)cGt>cAt		zinc finger protein 385B							124	113	117					2																	180310425		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180310425C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.947G>A	2.37:g.180310425C>T	ENSP00000386845:p.Arg316His					ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H	p.R316H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		8	1550	-			316					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.947G>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464584	0.96257	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.95	5.95	0.96441	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.57312	-0.7833	10	0.44086	T	0.13	-8.0555	20.3748	0.98911	0.0:1.0:0.0:0.0	.	316;240	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	316;214;240;214;214	ENSP00000386845:R316H;ENSP00000338225:R214H;ENSP00000386379:R240H;ENSP00000386507:R214H;ENSP00000394038:R214H	ENSP00000338225:R214H	R	-	2	0	ZNF385B	180018670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		0.378	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		54	328	0	0	0	1	0	54	328					T	180310425	C	T	180310425	3	4	79	1	0	0	0	0	1	0	0	0	17930	536	19	1	480	1	ZNF385B	2	180310425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2343	180310425	62888948	3224	13541											
CWC22	57703	broad.mit.edu	37	chr2	180817221	180817221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaatcttgcattaagTttaggaagacccatgtattc	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180817221T>C	ENST00000410053.3	-	17	2093	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	CWC22_ENST00000295749.6_Silent_p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	598					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGCATTAAGTTTAGGAAGAC	0.353																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(1792-1794)aaA>aaG		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							53	50	51					2																	180817221		1826	4068	5894	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180817221T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1794A>G	2.37:g.180817221T>C						CWC22_ENST00000295749.6_Silent_p.K598K	p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			17	2093	-			598					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.1794A>G	CCDS46465.1																																																																																				0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		5	34	0	0	0	1	0	5	34					C	180817221	T	C	180817221	2	2	79	1	0	0	0	0	0	0	0	1	4079	1722	60	4		4	CWC22	2	180817221	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506796	180817221	62382152	3225	13542											
CWC22	57703	broad.mit.edu	37	chr2	180837941	180837941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattttggttaataagatgCgccacaaattttgaagcagt	8	6	0	2	rs367980851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	261	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14506	0.0		0.0	False		,,,				2504	0.0					ENST00000410053.3																			1	Substitution - coding silent(1)	p.A261A(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(781-783)gcG>gcA		CWC22 spliceosome-associated protein homolog (S. cerevisiae)		T		5,3695		0,5,1845	57	53	55		783	-6.3	1	2		55	0,8194		0,0,4097	no	coding-synonymous	CWC22	NM_020943.2		0,5,5942	TT,TC,CC		0.0,0.1351,0.042		261/909	180837941	5,11889	1850	4097	5947	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180837941C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.783G>A	2.37:g.180837941C>T						CWC22_ENST00000295749.6_Silent_p.A261A	p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			8	1082	-			261			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.783G>A	CCDS46465.1																																																																																				0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		11	56	0	0	0	1	0	11	56					T	180837941	C	T	180837941	2	4	79	1	0	0	0	0	0	0	0	1	4079	755	27	1		1	CWC22	2	180837941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20720	180837941	62361432	3226	13543											
CWC22	57703	broad.mit.edu	37	chr2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactatattttcttgaagaAgctcttgaataataatactt	4	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	185	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(553-555)cTt>cCt		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							65	63	63					2																	180842944		1796	4061	5857	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180842944A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.554T>C	2.37:g.180842944A>G	ENSP00000387006:p.Leu185Pro					CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			6	853	-			185			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.554T>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410899	0.83340	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.060030	0.64402	D	0.000002	T	0.71676	0.3368	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81057	-0.1105	10	0.87932	D	0	-11.607	15.4442	0.75216	1.0:0.0:0.0:0.0	.	185	Q9HCG8	CWC22_HUMAN	P	185	ENSP00000387006:L185P;ENSP00000295749:L185P;ENSP00000384159:L185P	ENSP00000295749:L185P	L	-	2	0	CWC22	180551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.239000	0.73571	0.528000	0.53228	CTT		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		25	79	0	0	0	1	0	25	79					G	180842944	A	G	180842944	3	3	79	1	0	0	0	0	1	0	0	0	4079	72	3	4	2232	4	CWC22	2	180842944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5003	180842944	62356429	3227	13544											
UBE2E3	10477	broad.mit.edu	37	chr2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agataacttcaccaagatgtCcagtgataggcaaaggtccg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	2					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478																																						ENST00000410062.4																			0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(4-6)tCc>tTc		ubiquitin-conjugating enzyme E2E 3							41	49	46					2																	181846774		2203	4300	6503	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181846774C>T	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.5C>T	2.37:g.181846774C>T	ENSP00000386788:p.Ser2Phe					UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F	p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN			2	398	+			2					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.5C>T	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866090	0.71949	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.66995	-0.24;-0.24	5.15	3.33	0.38152	.	0.084010	0.51477	D	0.000093	T	0.65396	0.2687	L	0.54323	1.7	0.58432	D	0.999996	B	0.27229	0.172	B	0.37387	0.248	T	0.65043	-0.6264	10	0.87932	D	0	.	10.7273	0.46077	0.0:0.7957:0.1325:0.0718	.	2	Q969T4	UB2E3_HUMAN	F	2	ENSP00000376215:S2F;ENSP00000386788:S2F	ENSP00000376215:S2F	S	+	2	0	UBE2E3	181555019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	0.668000	0.31126	-0.175000	0.13238	TCC		0.478	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		68	262	0	0	0	1	0	68	262					T	181846774	C	T	181846774	3	4	79	1	0	0	0	0	1	0	0	0	16908	855	30	2	7	2	UBE2E3	2	181846774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003830	181846774	61352599	3228	13545											
CERKL	375298	broad.mit.edu	37	chr2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacatcatcagagctgTtaaatggtaaaaatgatatt	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000339098.5	-	9	1186	c.1187A>C	c.(1186-1188)aAc>aCc	p.N396T	CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000410087.3_Missense_Mutation_p.N370T|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	396					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1108-1110)aAc>aCc		ceramide kinase-like							104	102	102					2																	182413296		2203	4300	6503	SO:0001583	missense	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182413296T>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1187A>C	2.37:g.182413296T>G	ENSP00000341159:p.Asn396Thr					CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000339098.5_Missense_Mutation_p.N396T	p.N370T	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		8	1209	-			396					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1109A>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813822	0.32053	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.33;2.56;1.55;2.56;1.52	5.58	0.573	0.17363	.	1.269650	0.04866	N	0.445003	T	0.20373	0.0490	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.38195	0.212;0.622;0.152;0.199;0.126	B;B;B;B;B	0.36092	0.055;0.217;0.116;0.117;0.035	T	0.15321	-1.0441	10	0.13470	T	0.59	.	4.6924	0.12786	0.1415:0.3046:0.0:0.5539	.	352;257;301;370;396	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	370;352;257;396;301	ENSP00000386725:N370T;ENSP00000387080:N352T;ENSP00000364108:N257T;ENSP00000341159:N396T;ENSP00000364109:N301T	ENSP00000341159:N396T	N	-	2	0	CERKL	182121541	0.000000	0.05858	0.012000	0.15200	0.977000	0.68977	0.544000	0.23253	0.071000	0.16664	0.533000	0.62120	AAC		0.303	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			27	146	0	0	0	1	0	27	146					G	182413296	T	G	182413296	3	3	79	1	0	0	0	0	1	0	0	0	3277	1725	60	4	513	4	CERKL	2	182413296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566522	182413296	60786077	3229	13546											
NEUROD1	4760	broad.mit.edu	37	chr2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgtggaagacatgggagCtgtccatggtaccgtaaggc	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	236					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GACATGGGAGCTGTCCATGGT	0.627											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(706-708)aGc>aAc		neuronal differentiation 1							63	68	66					2																	182542881		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542881C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.707G>A	2.37:g.182542881C>T	ENSP00000295108:p.Ser236Asn		OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1977	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.S236N	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1164	-			236					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.707G>A	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841010	0.32513	.	.	ENSG00000162992	ENST00000295108	T	0.65364	-0.15	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.130034	0.64402	D	0.000002	T	0.52853	0.1760	L	0.31420	0.93	0.47123	D	0.999328	B	0.32968	0.392	B	0.33960	0.173	T	0.45659	-0.9246	10	0.18276	T	0.48	-24.2673	19.1109	0.93315	0.0:1.0:0.0:0.0	.	236	Q13562	NDF1_HUMAN	N	236	ENSP00000295108:S236N	ENSP00000295108:S236N	S	-	2	0	NEUROD1	182251126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.688000	0.46984	2.850000	0.98022	0.650000	0.86243	AGC		0.627	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		104	530	0	0	0	1	0	104	530					T	182542881	C	T	182542881	3	4	79	1	0	0	0	0	1	0	0	0	10390	797	28	2	367	2	NEUROD1	2	182542881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129585	182542881	60656492	3230	13547											
NEUROD1	4760	broad.mit.edu	37	chr2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtagttcttggccaagCgcagagtctcgattttggac	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	144	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R144L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTGGCCAAGCGCAGAGTCTC	0.567																																						ENST00000295108.3																			1	Substitution - Missense(1)	p.R144L(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(430-432)cGc>cAc		neuronal differentiation 1							77	75	76					2																	182543157		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543157C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.431G>A	2.37:g.182543157C>T	ENSP00000295108:p.Arg144His					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.R144H	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	888	-			144			Helix-loop-helix motif.		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.431G>A	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133671	0.77662	.	.	ENSG00000162992	ENST00000295108	D	0.98249	-4.82	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	-7.4311	19.4236	0.94732	0.0:1.0:0.0:0.0	.	144	Q13562	NDF1_HUMAN	H	144	ENSP00000295108:R144H	ENSP00000295108:R144H	R	-	2	0	NEUROD1	182251402	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.567	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		49	435	0	0	0	1	0	49	435					T	182543157	C	T	182543157	3	4	79	1	0	0	0	0	1	0	0	0	10390	768	27	1	643	1	NEUROD1	2	182543157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	182543157	60656216	3231	13548											
SSFA2	6744	broad.mit.edu	37	chr2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctacttgtagtgccttcGcttcccctttcgggtgtcct	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000431877.2	+	11	2823	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	882						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTGCCTTCGCTTCCCCTTT	0.517																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2644-2646)Gct>Tct		sperm specific antigen 2							137	121	127					2																	182781011		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182781011G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2644G>T	2.37:g.182781011G>T	ENSP00000388731:p.Ala882Ser					SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S	p.A882S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2823	+			882					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2644G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.857345	0.00558	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.55	-11.1	0.00147	.	2.062670	0.01651	N	0.024554	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006	B;B;B;B;B	0.13407	0.003;0.009;0.003;0.003;0.003	T	0.09207	-1.0685	10	0.16420	T	0.52	5.4602	5.474	0.16686	0.163:0.2509:0.4531:0.133	.	729;391;882;882;882	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	S	882;882;882;729;391	ENSP00000388731:A882S;ENSP00000314669:A882S;ENSP00000387319:A882S;ENSP00000409867:A729S;ENSP00000386916:A391S	ENSP00000314669:A882S	A	+	1	0	SSFA2	182489256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.891000	0.01611	-3.744000	0.00112	-0.136000	0.14681	GCT		0.517	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		116	370	1	0	8.58103e-55	1	1.07165e-54	116	370					T	182781011	G	T	182781011	3	4	79	1	0	0	0	0	1	0	0	0	15235	1087	38	3	2686	3	SSFA2	2	182781011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237854	182781011	60418362	3232	13549											
SSFA2	6744	broad.mit.edu	37	chr2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatattagaaactcactgcaGaatctttcacaggtatgaga	8	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000431877.2	+	11	2954	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	925						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCACTGCAGAATCTTTCAC	0.393																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2773-2775)caG>caT		sperm specific antigen 2							66	65	65					2																	182781142		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182781142G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2775G>T	2.37:g.182781142G>T	ENSP00000388731:p.Gln925His					SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H	p.Q925H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2954	+			925					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2775G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529694	0.64860	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	.	0.099627	0.64402	D	0.000001	T	0.64724	0.2624	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.65796	-0.6081	10	0.62326	D	0.03	-7.6063	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	772;434;925;925;925	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	925;925;925;772;434	ENSP00000388731:Q925H;ENSP00000314669:Q925H;ENSP00000387319:Q925H;ENSP00000409867:Q772H;ENSP00000386916:Q434H	ENSP00000314669:Q925H	Q	+	3	2	SSFA2	182489387	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CAG		0.393	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		50	247	1	0	3.4597e-24	1	3.94879e-24	50	247					T	182781142	G	T	182781142	3	4	79	1	0	0	0	0	1	0	0	0	15235	933	33	3	2817	3	SSFA2	2	182781142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	182781142	60418231	3233	13550											
SSFA2	6744	broad.mit.edu	37	chr2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatttgtttagaacaCaaatgatggatttagaattg	9	4	0	4	rs576369806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000431877.2	+	13	3099	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	974						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTTAGAACACAAATGATGGA	0.363																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2920-2922)Caa>Taa		sperm specific antigen 2							69	71	70					2																	182783536		2203	4300	6503	SO:0001587	stop_gained	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783536C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2920C>T	2.37:g.182783536C>T	ENSP00000388731:p.Gln974*					SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*	p.Q974*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		13	3099	+			974					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	c.2920C>T	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.729520|9.729520	0.99249|0.99249	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.051759|.	0.85682|.	D|.	0.000000|.	.|D	.|0.83440	.|0.5255	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83973	.|0.0328	.|4	0.32370|0.87932	T|D	0.25|0	-15.6619|-15.6619	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	974;974;974;821;483|12	.|.	ENSP00000314669:Q974X|ENSP00000390457:T12I	Q|T	+|+	1|2	0|0	SSFA2|SSFA2	182491781|182491781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.538000|6.538000	0.73852|0.73852	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		51	249	0	0	0	1	0	51	249					T	182783536	C	T	182783536	4	4	79	1	0	0	0	0	0	1	0	0	15235	479	17	2	2970	2	SSFA2	2	182783536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2394	182783536	60415837	3234	13551											
PDE1A	5136	broad.mit.edu	37	chr2	183387083	183387083	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttttccaattcttcaatCtctgtggcactagaccccat	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000410103.1	-	2	104	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000435564.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000536095.1_5'Flank	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATTCTTCAATCTCTGTGGCAC	0.408																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(19-21)gaG>gaA		phosphodiesterase 1A, calmodulin-dependent							149	145	146					2																	183387083		2202	4299	6501	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183387083C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.21G>A	2.37:g.183387083C>T						PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000410103.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000456212.1_Silent_p.E7E	p.E7E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		1	221	-			7					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.21G>A	CCDS33344.1																																																																																				0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			93	490	0	0	0	1	0	93	490					T	183387083	C	T	183387083	2	4	79	1	0	0	0	0	0	0	0	1	11675	912	32	2		2	PDE1A	2	183387083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603547	183387083	59812290	3235	13552											
FRZB	2487	broad.mit.edu	37	chr2	183699691	183699691	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaagcttcatatcccagCgctgtgaaatttaaaataga	8	8	1	2	rs373076417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.e6-1		frizzled-related protein		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	77	78		863	5.6	1	2		78	0,8600		0,0,4300	no	missense-near-splice	FRZB	NM_001463.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	288/326	183699691	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183699691C>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1G>A	2.37:g.183699691C>T							p.R288_splice	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		6	1472	-			288			NTR.		O00181|Q99686	Splice_Site	SNP	ENST00000295113.4	37	c.861_splice	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447749	0.84101	2.27E-4	0.0	ENSG00000162998	ENST00000295113	T	0.25579	1.79	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.34453	-0.9828	10	0.72032	D	0.01	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	288	Q92765	SFRP3_HUMAN	H	288	ENSP00000295113:R288H	ENSP00000295113:R288H	R	-	2	0	FRZB	183407936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.648000	0.89879	0.650000	0.86243	CGC		0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463	Missense_Mutation	110	328	0	0	0	1	0	110	328					T	183699691	C	T	183699691	5	4	79	1	0	0	0	0	0	0	1	0	6092	782	27	1	118	1	FRZB	2	183699691	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312608	183699691	59499682	3236	13553											
NCKAP1	10787	broad.mit.edu	37	chr2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataaacagattctctatttCttgttgtagttttatctgtc	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1079					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)			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)			TTCTCTATTTCTTGTTGTAGT	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(3253-3255)aGa>aTa		NCK-associated protein 1							100	99	99					2																	183791578		2202	4297	6499	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183791578C>A	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.3236G>T	2.37:g.183791578C>A	ENSP00000355348:p.Arg1079Ile					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R1079I	p.R1085I	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		31	4012	-			1079					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.3254G>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162703	0.94727	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	.	0.046284	0.85682	D	0.000000	T	0.56775	0.2008	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.83	T	0.59118	-0.7514	10	0.66056	D	0.02	-11.3828	19.0627	0.93099	0.0:1.0:0.0:0.0	.	1079;1085	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	1079;1085	ENSP00000355348:R1079I;ENSP00000354251:R1085I	ENSP00000354251:R1085I	R	-	2	0	NCKAP1	183499823	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.578000	0.82498	2.487000	0.83934	0.585000	0.79938	AGA		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		77	222	1	0	3.49902e-48	1	4.31606e-48	77	222					A	183791578	C	A	183791578	3	1	79	1	0	0	0	0	1	0	0	0	10263	913	32	3	158	3	NCKAP1	2	183791578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91887	183791578	59407795	3237	13554											
NCKAP1	10787	broad.mit.edu	37	chr2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctatagcagggctgtActgagacatcacattactgg	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1018					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)			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)			GCAGGGCTGTACTGAGACATC	0.363																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(3070-3072)Tac>Cac		NCK-associated protein 1							86	83	84					2																	183793529		2203	4299	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183793529A>G	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.3052T>C	2.37:g.183793529A>G	ENSP00000355348:p.Tyr1018His					NCKAP1_ENST00000361354.3_Missense_Mutation_p.Y1018H|NCKAP1_ENST00000478449.1_5'UTR	p.Y1024H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		29	3828	-			1018					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.3070T>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113469	0.77210	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.77611	-0.2523	10	0.87932	D	0	-11.5344	15.8359	0.78796	1.0:0.0:0.0:0.0	.	1018;1024	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	1018;1024	ENSP00000355348:Y1018H;ENSP00000354251:Y1024H	ENSP00000354251:Y1024H	Y	-	1	0	NCKAP1	183501774	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.229000	0.95273	2.206000	0.71126	0.383000	0.25322	TAC		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		76	260	0	0	0	1	0	76	260					G	183793529	A	G	183793529	3	3	79	1	0	0	0	0	1	0	0	0	10263	391	14	4	350	4	NCKAP1	2	183793529	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	183793529	59405844	3238	13555											
NCKAP1	10787	broad.mit.edu	37	chr2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtgccaatgatcggaagGataaaattacaccaattatt	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	915					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)			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)			TGATCGGAAGGATAAAATTAC	0.333																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2761-2763)tCc>tTc		NCK-associated protein 1							124	120	121					2																	183800055		2203	4297	6500	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183800055G>A	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.2744C>T	2.37:g.183800055G>A	ENSP00000355348:p.Ser915Phe					NCKAP1_ENST00000361354.3_Missense_Mutation_p.S915F|NCKAP1_ENST00000478449.1_5'UTR	p.S921F	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		26	3520	-			915					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2762C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047969	0.93740	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.60052	-0.7338	10	0.32370	T	0.25	-7.4815	19.2877	0.94085	0.0:0.0:1.0:0.0	.	915;921	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	915;921	ENSP00000355348:S915F;ENSP00000354251:S921F	ENSP00000354251:S921F	S	-	2	0	NCKAP1	183508300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.638000	0.89438	0.585000	0.79938	TCC		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		65	218	0	0	0	1	0	65	218					A	183800055	G	A	183800055	3	1	79	1	0	0	0	0	1	0	0	0	10263	1174	41	2	670	2	NCKAP1	2	183800055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6526	183800055	59399318	3239	13556											
NCKAP1	10787	broad.mit.edu	37	chr2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctcttatgtcattaaTacgtttattatagctaggtg	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	321					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)			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)			ATGTCATTAATACGTTTATTA	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(979-981)Att>Gtt		NCK-associated protein 1							61	62	62					2																	183850942		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183850942T>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.961A>G	2.37:g.183850942T>C	ENSP00000355348:p.Ile321Val					NCKAP1_ENST00000361354.3_Missense_Mutation_p.I321V	p.I327V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		11	1737	-			321					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.979A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150960	0.21371	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.51	5.51	0.81932	.	0.045134	0.85682	D	0.000000	T	0.17323	0.0416	N	0.13327	0.33	0.58432	D	0.999997	B;B	0.18166	0.026;0.012	B;B	0.17979	0.02;0.012	T	0.06023	-1.0850	10	0.05721	T	0.95	-12.7699	14.7984	0.69894	0.0:0.0:0.0:1.0	.	321;327	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	321;327	ENSP00000355348:I321V;ENSP00000354251:I327V	ENSP00000354251:I327V	I	-	1	0	NCKAP1	183559187	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.654000	0.61469	2.106000	0.64143	0.402000	0.26972	ATT		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		32	156	0	0	0	1	0	32	156					C	183850942	T	C	183850942	3	2	79	1	0	0	0	0	1	0	0	0	10263	1406	49	4	2513	4	NCKAP1	2	183850942	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50887	183850942	59348431	3240	13557											
NCKAP1	10787	broad.mit.edu	37	chr2	183867735	183867735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggcaaacgtcaatagtAttcagcaattcacaaacatg	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	112					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)			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)			CGTCAATAGTATTCAGCAATT	0.308																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(352-354)aaT>aaC		NCK-associated protein 1							45	46	46					2																	183867735		2203	4296	6499	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183867735A>G	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.336T>C	2.37:g.183867735A>G						NCKAP1_ENST00000361354.3_Silent_p.N112N	p.N118N	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		5	1112	-			112					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.354T>C	CCDS2287.1																																																																																				0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		8	146	0	0	0	1	0	8	146					G	183867735	A	G	183867735	2	3	79	1	0	0	0	0	0	0	0	1	10263	446	16	4		4	NCKAP1	2	183867735	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16793	183867735	59331638	3241	13558											
ZNF804A	91752	broad.mit.edu	37	chr2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagaacaaacaaaccaaTtaagaaacaaactgtctttc	3	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACAAACCAATTAAGAAACAA	0.363																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2623-2625)Tta>Gta		zinc finger protein 804A							87	80	82					2																	185802746		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802746T>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2623T>G	2.37:g.185802746T>G	ENSP00000303252:p.Leu875Val						p.L875V	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3217	+			875					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2623T>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.259109	0.00021	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.42	1.27	0.21489	.	1.099100	0.07006	N	0.824313	T	0.01940	0.0061	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45542	-0.9254	10	0.06625	T	0.88	-1.0291	1.7147	0.02899	0.1615:0.1326:0.4125:0.2934	.	875	Q7Z570	Z804A_HUMAN	V	875	ENSP00000303252:L875V	ENSP00000303252:L875V	L	+	1	2	ZNF804A	185510991	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.345000	0.19979	0.234000	0.21139	-0.452000	0.05504	TTA		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		40	446	0	0	0	1	0	40	446					G	185802746	T	G	185802746	3	3	79	1	0	0	0	0	1	0	0	0	18223	1490	52	4	2637	4	ZNF804A	2	185802746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1935011	185802746	57396627	3242	13559											
ZNF804A	91752	broad.mit.edu	37	chr2	185803264	185803264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacaaattcaaaaatgtAccatgtgaggtctaccagca	7	9	2	2	rs201456176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1047							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAAAATGTACCATGTGAGG	0.458																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3139-3141)gtA>gtG		zinc finger protein 804A							79	74	76					2																	185803264		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803264A>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3141A>G	2.37:g.185803264A>G							p.V1047V	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3735	+			1047					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3141A>G	CCDS2291.1																																																																																				0.458	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		145	436	0	0	0	1	0	145	436					G	185803264	A	G	185803264	2	3	79	1	0	0	0	0	0	0	0	1	18223	378	14	4		4	ZNF804A	2	185803264	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518	185803264	57396109	3243	13560											
FSIP2	401024	broad.mit.edu	37	chr2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaaaatgtcattgaaAatatttttgaagatgtttta	6	2	2	3	rs549664259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000424728.1	+	17	17047	c.17047A>G	c.(17047-17049)Aat>Gat	p.N5683D	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5683										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17314-17316)Aat>Gat		fibrous sheath interacting protein 2							71	67	68					2																	186671080		1839	4083	5922	SO:0001583	missense	401024							g.chr2:186671080A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17047A>G	2.37:g.186671080A>G	ENSP00000401306:p.Asn5683Asp					FSIP2_ENST00000424728.1_Missense_Mutation_p.N5683D	p.N5772D	NM_173651.2	NP_775922.2					17	17314	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17314A>G		.	.	.	.	.	.	.	.	.	.	A	12.34	1.909852	0.33721	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.21	5.21	0.72293	.	.	.	.	.	T	0.45418	0.1341	L	0.32530	0.975	0.29107	N	0.881129	.	.	.	.	.	.	T	0.47849	-0.9085	7	0.56958	D	0.05	.	11.3864	0.49787	1.0:0.0:0.0:0.0	.	.	.	.	D	5772;5683	ENSP00000344403:N5772D;ENSP00000401306:N5683D	ENSP00000344403:N5772D	N	+	1	0	FSIP2	186379325	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.007000	0.57093	2.175000	0.68902	0.482000	0.46254	AAT		0.378	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		78	341	0	0	0	1	0	78	341					G	186671080	A	G	186671080	3	3	79	1	0	0	0	0	1	0	0	0	6102	14	1	4	17380	4	FSIP2	2	186671080	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	867816	186671080	56528293	3244	13561											
FSIP2	401024	broad.mit.edu	37	chr2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcagataaaatgccacCtatgcataaaatgatgagaa	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000424728.1	+	17	17675	c.17675C>A	c.(17674-17676)cCt>cAt	p.P5892H	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5892										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17941-17943)cCt>cAt		fibrous sheath interacting protein 2							61	59	59					2																	186671708		1851	4106	5957	SO:0001583	missense	401024							g.chr2:186671708C>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17675C>A	2.37:g.186671708C>A	ENSP00000401306:p.Pro5892His					FSIP2_ENST00000424728.1_Missense_Mutation_p.P5892H	p.P5981H	NM_173651.2	NP_775922.2					17	17942	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17942C>A		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542692	0.00934	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	4.52	1.24	0.21308	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19844	-1.0293	7	0.44086	T	0.13	.	6.0926	0.20003	0.3565:0.5258:0.1177:0.0	.	.	.	.	H	5981;5892	ENSP00000344403:P5981H;ENSP00000401306:P5892H	ENSP00000344403:P5981H	P	+	2	0	FSIP2	186379953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.020000	0.15106	-0.479000	0.04858	CCT		0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		53	284	1	0	2.23044e-30	1	2.6157e-30	53	284					A	186671708	C	A	186671708	3	1	79	1	0	0	0	0	1	0	0	0	6102	681	24	3	18008	3	FSIP2	2	186671708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	186671708	56527665	3245	13562											
FSIP2	401024	broad.mit.edu	37	chr2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaatataaacagtaatgGagaaaatttagcaagaagac	9	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000424728.1	+	17	17825	c.17825G>A	c.(17824-17826)gGa>gAa	p.G5942E	FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5942										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18091-18093)gGa>gAa		fibrous sheath interacting protein 2							106	103	104					2																	186671858		1813	4069	5882	SO:0001583	missense	401024							g.chr2:186671858G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17825G>A	2.37:g.186671858G>A	ENSP00000401306:p.Gly5942Glu					FSIP2_ENST00000424728.1_Missense_Mutation_p.G5942E	p.G6031E	NM_173651.2	NP_775922.2					17	18092	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18092G>A		.	.	.	.	.	.	.	.	.	.	G	12.44	1.938612	0.34189	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.53	4.8	2.01	0.26516	.	0.701833	0.13045	N	0.418241	T	0.43389	0.1245	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	8	0.38643	T	0.18	.	6.7008	0.23225	0.2981:0.0:0.7019:0.0	.	.	.	.	E	6031;5942	ENSP00000344403:G6031E;ENSP00000401306:G5942E	ENSP00000344403:G6031E	G	+	2	0	FSIP2	186380103	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	0.567000	0.23608	0.232000	0.21100	0.491000	0.48974	GGA		0.318	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		79	378	0	0	0	1	0	79	378					A	186671858	G	A	186671858	3	1	79	1	0	0	0	0	1	0	0	0	6102	1174	41	2	18158	2	FSIP2	2	186671858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	186671858	56527515	3246	13563											
FSIP2	401024	broad.mit.edu	37	chr2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttataacataatagaaGaaattgctgtgaaattttta	6	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000424728.1	+	17	18541	c.18541G>T	c.(18541-18543)Gaa>Taa	p.E6181*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6181										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18808-18810)Gaa>Taa		fibrous sheath interacting protein 2							47	42	44					2																	186672574		1797	4061	5858	SO:0001587	stop_gained	401024							g.chr2:186672574G>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18541G>T	2.37:g.186672574G>T	ENSP00000401306:p.Glu6181*					FSIP2_ENST00000424728.1_Nonsense_Mutation_p.E6181*	p.E6270*	NM_173651.2	NP_775922.2					17	18808	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	ENST00000424728.1	37	c.18808G>T		.	.	.	.	.	.	.	.	.	.	G	57	29.478575	0.99975	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.96	3.11	0.35812	.	0.364751	0.23740	N	0.045026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3689	0.16129	0.1048:0.0:0.6956:0.1996	.	.	.	.	X	6270;6181	.	ENSP00000344403:E6270X	E	+	1	0	FSIP2	186380819	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.229000	0.51278	0.645000	0.30675	0.484000	0.47621	GAA		0.303	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		65	169	1	0	4.13886e-29	1	4.83036e-29	65	169					T	186672574	G	T	186672574	4	4	79	1	0	0	0	0	0	1	0	0	6102	943	33	3	18874	3	FSIP2	2	186672574	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	186672574	56526799	3247	13564											
FSIP2	401024	broad.mit.edu	37	chr2	186673515	186673515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgttcaaaaggcccaagaAcatgcttttaatgtgattcc	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186673515A>G	ENST00000424728.1	+	17	19482	c.19482A>G	c.(19480-19482)gaA>gaG	p.E6494E	FSIP2_ENST00000343098.5_Silent_p.E6583E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6494										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGCCCAAGAACATGCTTTTA	0.323																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19747-19749)gaA>gaG		fibrous sheath interacting protein 2							60	58	58					2																	186673515		1815	4064	5879	SO:0001819	synonymous_variant	401024							g.chr2:186673515A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19482A>G	2.37:g.186673515A>G						FSIP2_ENST00000424728.1_Silent_p.E6494E	p.E6583E	NM_173651.2	NP_775922.2					17	19749	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.19749A>G																																																																																					0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		17	437	0	0	0	1	0	17	437					G	186673515	A	G	186673515	2	3	79	1	0	0	0	0	0	0	0	1	6102	40	2	4		4	FSIP2	2	186673515	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	186673515	56525858	3248	13565											
FSIP2	401024	broad.mit.edu	37	chr2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaatttcaggccgttgCtagaaattcatttcagaata	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000424728.1	+	18	19835	c.19835C>T	c.(19834-19836)gCt>gTt	p.A6612V	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6612										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(20101-20103)gCt>gTt		fibrous sheath interacting protein 2							30	29	29					2																	186678279		1797	4061	5858	SO:0001583	missense	401024							g.chr2:186678279C>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19835C>T	2.37:g.186678279C>T	ENSP00000401306:p.Ala6612Val					FSIP2_ENST00000424728.1_Missense_Mutation_p.A6612V	p.A6701V	NM_173651.2	NP_775922.2					18	20102	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.20102C>T		.	.	.	.	.	.	.	.	.	.	C	10.96	1.498684	0.26861	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.84	5.28	4.4	0.53042	.	0.657980	0.14932	N	0.290028	T	0.38453	0.1041	N	0.22421	0.69	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25047	-1.0143	8	0.29301	T	0.29	.	11.9003	0.52680	0.0:0.1782:0.8218:0.0	.	.	.	.	V	6701;6612	ENSP00000344403:A6701V;ENSP00000401306:A6612V	ENSP00000344403:A6701V	A	+	2	0	FSIP2	186386524	1.000000	0.71417	0.196000	0.23383	0.000000	0.00434	3.393000	0.52544	1.462000	0.47948	-0.280000	0.10049	GCT		0.284	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	81	0	0	0	1	0	23	81					T	186678279	C	T	186678279	3	4	79	1	0	0	0	0	1	0	0	0	6102	797	28	2	20172	2	FSIP2	2	186678279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4764	186678279	56521094	3249	13566											
ZC3H15	55854	broad.mit.edu	37	chr2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaatgttaccaaaatcaCtctagaatcttttcttgcct	3	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	251	Required for interaction with DRG1. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(751-753)aCt>aTt		zinc finger CCCH-type containing 15							81	80	80					2																	187370212		1834	4088	5922	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370212C>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.752C>T	2.37:g.187370212C>T	ENSP00000338788:p.Thr251Ile					ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	p.T251I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		7	979	+			251			Required for interaction with DRG1 (By similarity).		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.752C>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096806	0.94197	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.58797	0.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84774	0.0769	10	0.87932	D	0	-7.9277	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251	Q8WU90	ZC3HF_HUMAN	I	251;46;251	ENSP00000338788:T251I	ENSP00000338788:T251I	T	+	2	0	ZC3H15	187078457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	ACT		0.368	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		71	253	0	0	0	1	0	71	253					T	187370212	C	T	187370212	3	4	79	1	0	0	0	0	1	0	0	0	17620	565	20	2	778	2	ZC3H15	2	187370212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691933	187370212	55829161	3250	13567											
ITGAV	3685	broad.mit.edu	37	chr2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcttctctcgggactcCtgctacctctgtgccgcgcc	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	24					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTCGGGACTCCTGCTACCTCT	0.672																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(70-72)Ctg>Atg		integrin, alpha V							32	36	35					2																	187455135		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455135C>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.70C>A	2.37:g.187455135C>A	ENSP00000261023:p.Leu24Met					ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	p.L24M	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	344	+			24					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.70C>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515380	0.44763	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85411	-1.98;-1.98	4.18	3.25	0.37280	.	0.974764	0.08378	N	0.954986	D	0.85204	0.5643	M	0.71036	2.16	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.78478	-0.2188	10	0.36615	T	0.2	.	4.9857	0.14189	0.0:0.5721:0.2921:0.1358	.	24;24	P06756-2;P06756	.;ITAV_HUMAN	M	24	ENSP00000261023:L24M;ENSP00000364042:L24M	ENSP00000261023:L24M	L	+	1	2	ITGAV	187163380	0.050000	0.20438	0.997000	0.53966	0.938000	0.57974	0.460000	0.21924	0.853000	0.35312	0.462000	0.41574	CTG		0.672	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		73	245	1	0	7.62596e-35	1	9.08233e-35	73	245					A	187455135	C	A	187455135	3	1	79	1	0	0	0	0	1	0	0	0	7918	680	24	3	72	3	ITGAV	2	187455135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84923	187455135	55744238	3251	13568											
ITGAV	3685	broad.mit.edu	37	chr2	187503034	187503034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagttccaagagcagcaaGgactttgggaatggtaggac	15	6	0	1	rs199603191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503034G>T	ENST00000261023.3	+	9	1107	c.833G>T	c.(832-834)aGg>aTg	p.R278M	ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M|ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	278					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AGAGCAGCAAGGACTTTGGGA	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(832-834)aGg>aTg		integrin, alpha V							92	93	93					2																	187503034		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187503034G>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.833G>T	2.37:g.187503034G>T	ENSP00000261023:p.Arg278Met					ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M|ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M	p.R278M	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	9	1107	+			278					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.833G>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707136	0.68615	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.68025	-0.3;-0.3;-0.3	5.43	5.43	0.79202	.	0.146549	0.64402	D	0.000008	T	0.65112	0.2660	N	0.17594	0.5	0.44036	D	0.996766	D;B;D	0.62365	0.991;0.082;0.991	P;B;P	0.62491	0.903;0.037;0.903	T	0.63382	-0.6650	10	0.30854	T	0.27	.	12.5628	0.56293	0.076:0.0:0.924:0.0	.	232;242;278	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	M	278;278;242;232	ENSP00000261023:R278M;ENSP00000364042:R242M;ENSP00000404291:R232M	ENSP00000261023:R278M	R	+	2	0	ITGAV	187211279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	2.548000	0.85928	0.643000	0.83706	AGG		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	258	1	0	0.000157383	1	0.000159814	8	258					T	187503034	G	T	187503034	3	4	79	1	0	0	0	0	1	0	0	0	7918	1000	35	3	918	3	ITGAV	2	187503034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47899	187503034	55696339	3252	13569											
ITGAV	3685	broad.mit.edu	37	chr2	187503186	187503186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttatacaattttactggCgagcaggtatgcttccaaaa	7	9	0	0	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ITGAV_ENST00000433736.2_Silent_p.G253G|ITGAV_ENST00000374907.3_Silent_p.G263G|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	299					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATTTTACTGGCGAGCAGGTAT	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(895-897)ggC>ggT		integrin, alpha V		C	,,	2,4402	4.2+/-10.8	0,2,2200	84	86	85		759,789,897	0.8	1	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	253/1003,263/1013,299/1049	187503186	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187503186C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.897C>T	2.37:g.187503186C>T						ITGAV_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G	p.G299G	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	10	1171	+			299					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.897C>T	CCDS2292.1																																																																																				0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		58	285	0	0	0	1	0	58	285					T	187503186	C	T	187503186	2	4	79	1	0	0	0	0	0	0	0	1	7918	755	27	1		1	ITGAV	2	187503186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	187503186	55696187	3253	13570											
ITGAV	3685	broad.mit.edu	37	chr2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcttcgtttcagtgtgCaccagcagtcagagatggat	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	732					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCAGTGTGCACCAGCAGTC	0.318																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2194-2196)Cac>Tac		integrin, alpha V							101	97	99					2																	187531458		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187531458C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2194C>T	2.37:g.187531458C>T	ENSP00000261023:p.His732Tyr					ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|AC017101.10_ENST00000453665.1_RNA	p.H732Y	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	22	2468	+			732					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2194C>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463354	0.84425	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.62723	1.935	0.80722	D	1	P;P;P	0.47910	0.902;0.659;0.902	P;P;P	0.54270	0.747;0.5;0.747	T	0.56589	-0.7954	10	0.51188	T	0.08	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	686;696;732	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	732;696;686	ENSP00000261023:H732Y;ENSP00000364042:H696Y;ENSP00000404291:H686Y	ENSP00000261023:H732Y	H	+	1	0	ITGAV	187239703	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.907000	0.56348	2.664000	0.90586	0.557000	0.71058	CAC		0.318	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		55	330	0	0	0	1	0	55	330					T	187531458	C	T	187531458	3	4	79	1	0	0	0	0	1	0	0	0	7918	710	25	2	2331	2	ITGAV	2	187531458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28272	187531458	55667915	3254	13571											
ZSWIM2	151112	broad.mit.edu	37	chr2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcttactattcttaGtaatcagttggagaggcagt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	332					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTATTCTTAGTAATCAGTTG	0.388																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(994-996)aCt>aTt		zinc finger, SWIM-type containing 2							195	183	187					2																	187694554		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694554G>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.995C>T	2.37:g.187694554G>A	ENSP00000295131:p.Thr332Ile						p.T332I	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1034	-			332					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.995C>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717424	0.68844	.	.	ENSG00000163012	ENST00000295131	T	0.67523	-0.27	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000026	T	0.71710	0.3372	L	0.47190	1.495	0.34588	D	0.715199	D	0.67145	0.996	P	0.56612	0.802	T	0.79766	-0.1665	10	0.72032	D	0.01	-15.1682	13.4258	0.61024	0.0:0.1572:0.8428:0.0	.	332	Q8NEG5	ZSWM2_HUMAN	I	332	ENSP00000295131:T332I	ENSP00000295131:T332I	T	-	2	0	ZSWIM2	187402799	1.000000	0.71417	0.620000	0.29132	0.859000	0.49053	4.432000	0.59922	2.873000	0.98535	0.563000	0.77884	ACT		0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		108	472	0	0	0	1	0	108	472					A	187694554	G	A	187694554	3	1	79	1	0	0	0	0	1	0	0	0	18294	1029	36	2	914	2	ZSWIM2	2	187694554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163096	187694554	55504819	3255	13572											
TFPI	7035	broad.mit.edu	37	chr2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatttcccccacatccaCtgtacttaaatgggcggcat	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCCACATCCACTGTACTTAAA	0.408																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(742-744)aGt>aAt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						158	152	154					2																	188332545		2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332545C>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.743G>A	2.37:g.188332545C>T	ENSP00000233156:p.Ser248Asn					AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000453517.1_RNA	p.S248N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		7	1037	-			248			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.743G>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355321	0.61293	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.58060	0.36;0.36;0.36	5.44	3.54	0.40534	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.54367	0.1854	M	0.71581	2.175	0.29044	N	0.884898	P	0.52842	0.956	P	0.46049	0.502	T	0.54516	-0.8282	10	0.33141	T	0.24	.	12.2335	0.54500	0.0:0.6561:0.3439:0.0	.	248	P10646	TFPI1_HUMAN	N	248	ENSP00000376172:S248N;ENSP00000233156:S248N;ENSP00000397248:S248N	ENSP00000233156:S248N	S	-	2	0	TFPI	188040790	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.230000	0.42999	0.694000	0.31654	0.557000	0.71058	AGT		0.408	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		129	440	0	0	0	1	0	129	440					T	188332545	C	T	188332545	3	4	79	1	0	0	0	0	1	0	0	0	15860	565	20	2	179	2	TFPI	2	188332545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637991	188332545	54866828	3256	13573											
TFPI	7035	broad.mit.edu	37	chr2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcactcttccagacttTcaaatcgattctgatttcct	4	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	TFPI_ENST00000409676.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	95	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTCCAGACTTTCAAATCGATT	0.363																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(283-285)gAa>gCa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						77	80	79					2																	188361643		2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188361643T>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.284A>C	2.37:g.188361643T>G	ENSP00000233156:p.Glu95Ala					AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A	p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		3	578	-			95			BPTI/Kunitz inhibitor 1.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.284A>C	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095576	0.36952	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.62	1.51	0.23008	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.051830	0.07336	N	0.879995	T	0.44767	0.1309	L	0.44542	1.39	0.09310	N	1	P;B	0.34955	0.477;0.277	B;B	0.37731	0.115;0.257	T	0.29579	-1.0007	10	0.14656	T	0.56	.	9.0121	0.36148	0.5555:0.0:0.0:0.4445	.	95;95	P10646-2;P10646	.;TFPI1_HUMAN	A	95	ENSP00000376172:E95A;ENSP00000233156:E95A;ENSP00000397248:E95A;ENSP00000409177:E95A;ENSP00000386344:E95A;ENSP00000342306:E95A;ENSP00000388159:E95A;ENSP00000408170:E95A;ENSP00000394185:E95A	ENSP00000233156:E95A	E	-	2	0	TFPI	188069888	0.000000	0.05858	0.170000	0.22879	0.926000	0.56050	0.101000	0.15251	0.355000	0.24131	0.477000	0.44152	GAA		0.363	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		77	364	0	0	0	1	0	77	364					G	188361643	T	G	188361643	3	3	79	1	0	0	0	0	1	0	0	0	15860	1783	62	4	786	4	TFPI	2	188361643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29098	188361643	54837730	3257	13574											
DIRC1	116093	broad.mit.edu	37	chr2	189599453	189599453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttattggtttataaaaGcatgtgtctgagatgatgga	11	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408																																						ENST00000308100.4																			0				large_intestine(1)|lung(6)	7						c.(193-195)tgC>tgT		disrupted in renal carcinoma 1							157	153	155					2																	189599453		2203	4300	6503	SO:0001819	synonymous_variant	116093							g.chr2:189599453G>A	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.195C>T	2.37:g.189599453G>A						AC079613.1_ENST00000431708.1_RNA	p.C65C	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	465	-			65					Q08AK1	Silent	SNP	ENST00000308100.4	37	c.195C>T	CCDS2296.1																																																																																				0.408	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		169	523	0	0	0	1	0	169	523					A	189599453	G	A	189599453	2	1	79	1	0	0	0	0	0	0	0	1	4549	963	34	2		2	DIRC1	2	189599453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1237810	189599453	53599920	3258	13575											
COL3A1	1281	broad.mit.edu	37	chr2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcttgtttttagggtcCtcctggaaagaatggtgaaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	607	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)			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)	TTTTAGGGTCCTCCTGGAAAG	0.433																																						ENST00000304636.3																			0				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						c.(1819-1821)cCt>cTt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						102	105	104					2																	189862066		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.chr2:189862066C>T	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.1820C>T	2.37:g.189862066C>T	ENSP00000304408:p.Pro607Leu					COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	p.P607L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		26	1990	+			607			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.1820C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993368	0.19043	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93659	-3.26;-3.26	6.03	4.98	0.66077	.	0.298232	0.23977	N	0.042719	D	0.87569	0.6210	L	0.35723	1.085	0.19300	N	0.999971	B	0.06786	0.001	B	0.15870	0.014	T	0.68625	-0.5359	10	0.07482	T	0.82	.	12.5333	0.56128	0.0:0.86:0.0:0.14	.	607	P02461	CO3A1_HUMAN	L	607	ENSP00000304408:P607L;ENSP00000315243:P607L	ENSP00000304408:P607L	P	+	2	0	COL3A1	189570311	0.001000	0.12720	0.999000	0.59377	0.440000	0.31957	0.303000	0.19210	2.868000	0.98415	0.555000	0.69702	CCT		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		77	373	0	0	0	1	0	77	373					T	189862066	C	T	189862066	3	4	79	1	0	0	0	0	1	0	0	0	3697	681	24	2	1922	2	COL3A1	2	189862066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262613	189862066	53337307	3259	13576											
COL3A1	1281	broad.mit.edu	37	chr2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctttctttccagggcCctgctggtcagcagggtgca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1123	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)			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)	TTTCCAGGGCCCTGCTGGTCA	0.483																																						ENST00000304636.3																			0				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						c.(3367-3369)Cct>Tct		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						67	70	69					2																	189872614		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.chr2:189872614C>T	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.3367C>T	2.37:g.189872614C>T	ENSP00000304408:p.Pro1123Ser					COL3A1_ENST00000317840.5_Intron	p.P1123S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		46	3537	+			1123			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.3367C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634509	0.14322	.	.	ENSG00000168542	ENST00000304636	D	0.92397	-3.03	5.5	1.43	0.22495	.	0.499804	0.17163	N	0.184617	D	0.85427	0.5694	L	0.41415	1.275	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.70371	-0.4890	10	0.23302	T	0.38	.	7.5953	0.28044	0.1163:0.3413:0.475:0.0674	.	1123	P02461	CO3A1_HUMAN	S	1123	ENSP00000304408:P1123S	ENSP00000304408:P1123S	P	+	1	0	COL3A1	189580859	0.000000	0.05858	0.969000	0.41365	0.943000	0.58893	-0.751000	0.04803	0.263000	0.21812	0.650000	0.86243	CCT		0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		112	344	0	0	0	1	0	112	344					T	189872614	C	T	189872614	3	4	79	1	0	0	0	0	1	0	0	0	3697	623	22	2	3549	2	COL3A1	2	189872614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10548	189872614	53326759	3260	13577											
COL5A2	1290	broad.mit.edu	37	chr2	189901341	189901341	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtaaacatattaaattaCctgagaccctctgttcatat	4	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTAAATTACCTGAGACCCT	0.328																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e52+1		collagen, type V, alpha 2							57	54	55					2																	189901341		2203	4298	6501	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189901341C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4113+1G>A	2.37:g.189901341C>T								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		52	4388	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832870	0.91036	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189609586	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	.		0.328	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	48	153	0	0	0	1	0	48	153					T	189901341	C	T	189901341	5	4	79	1	0	0	0	0	0	0	1	0	3706	521	18	2	397	2	COL5A2	2	189901341	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28727	189901341	53298032	3261	13578											
COL5A2	1290	broad.mit.edu	37	chr2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaggaccattggagcCtgggggccccacaggtccag	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1038					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTGGAGCCTGGGGGCCCC	0.453																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3112-3114)Ggc>Agc		collagen, type V, alpha 2							56	54	55					2																	189914108		2202	4300	6502	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189914108C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3112G>A	2.37:g.189914108C>T	ENSP00000364000:p.Gly1038Ser						p.G1038S	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		44	3386	-			1038					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3112G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505796	0.85282	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000040	D	0.99829	0.9923	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97011	0.9736	9	.	.	.	.	19.8749	0.96865	0.0:1.0:0.0:0.0	.	678;1038	Q5PR22;P05997	.;CO5A2_HUMAN	S	1038;678	ENSP00000364000:G1038S	.	G	-	1	0	COL5A2	189622353	1.000000	0.71417	0.738000	0.30950	0.718000	0.41266	7.376000	0.79658	2.932000	0.99384	0.644000	0.83932	GGC		0.453	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		26	96	0	0	0	1	0	26	96					T	189914108	C	T	189914108	3	4	79	1	0	0	0	0	1	0	0	0	3706	681	24	2	1431	2	COL5A2	2	189914108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12767	189914108	53285265	3262	13579											
COL5A2	1290	broad.mit.edu	37	chr2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccagcatctcccttctgtCctggctctccaggttcacct	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTTCTGTCCTGGCTCTCC	0.433																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2599-2601)gGa>gAa		collagen, type V, alpha 2							92	84	87					2																	189917698		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917698C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2600G>A	2.37:g.189917698C>T	ENSP00000364000:p.Gly867Glu						p.G867E	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2874	-			867					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2600G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371237	0.82573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000127	D	0.99775	0.9907	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.97205	0.9867	9	.	.	.	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	507;867	Q5PR22;P05997	.;CO5A2_HUMAN	E	867;507	ENSP00000364000:G867E	.	G	-	2	0	COL5A2	189625943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.770000	0.85390	2.631000	0.89168	0.585000	0.79938	GGA		0.433	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		29	171	0	0	0	1	0	29	171					T	189917698	C	T	189917698	3	4	79	1	0	0	0	0	1	0	0	0	3706	855	30	2	1963	2	COL5A2	2	189917698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3590	189917698	53281675	3263	13580											
COL5A2	1290	broad.mit.edu	37	chr2	189922062	189922062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactctgtcacccttggggCcaggagttcctgcaattcct	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	ENST00000374866.3	-	34	2595	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	774					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTTGGGGCCAGGAGTTCC	0.443																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2320-2322)gGc>gTc		collagen, type V, alpha 2							57	56	56					2																	189922062		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189922062C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2321G>T	2.37:g.189922062C>A	ENSP00000364000:p.Gly774Val						p.G774V	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		34	2595	-			774					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2321G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045916	0.75846	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99186	-5.53	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000077	D	0.99588	0.9851	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98080	1.0403	9	.	.	.	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	414;774	Q5PR22;P05997	.;CO5A2_HUMAN	V	774;414	ENSP00000364000:G774V	.	G	-	2	0	COL5A2	189630307	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		0.443	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		13	344	1	0	1.61879e-10	1	1.71755e-10	13	344					A	189922062	C	A	189922062	3	1	79	1	0	0	0	0	1	0	0	0	3706	739	26	3	2262	3	COL5A2	2	189922062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4364	189922062	53277311	3264	13581											
COL5A2	1290	broad.mit.edu	37	chr2	189929383	189929383	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgttctccttgagcacccTgtaccgaggcaaagcagatg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAGCACCCTGTACCGAGGC	0.478																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e25-2		collagen, type V, alpha 2							47	50	49					2																	189929383		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929383T>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1618-2A>C	2.37:g.189929383T>G								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1892	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663826	0.88251	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0612	0.80839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189637628	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.438000	0.80431	2.250000	0.74265	0.477000	0.44152	.		0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	50	327	0	0	0	1	0	50	327					G	189929383	T	G	189929383	5	3	79	1	0	0	0	0	0	0	1	0	3706	1594	55	4	3003	4	COL5A2	2	189929383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7321	189929383	53269990	3265	13582											
COL5A2	1290	broad.mit.edu	37	chr2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctgagtgcaggctatttCttcaccatatccttctaaaa	5	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	38					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTATTTCTTCACCATAT	0.383																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(112-114)Gaa>Taa		collagen, type V, alpha 2							60	62	61					2																	189975161		2203	4300	6503	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189975161C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.112G>T	2.37:g.189975161C>A	ENSP00000364000:p.Glu38*						p.E38*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		2	386	-			38					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.112G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219777	0.98143	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6133	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	.	E	-	1	0	COL5A2	189683406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.702000	0.92279	0.655000	0.94253	GAA		0.383	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		43	236	1	0	4.16155e-14	1	4.51065e-14	43	236					A	189975161	C	A	189975161	4	1	79	1	0	0	0	0	0	1	0	0	3706	922	32	3	4599	3	COL5A2	2	189975161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45778	189975161	53224212	3266	13583											
SLC40A1	30061	broad.mit.edu	37	chr2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaatcaaaggaccaaAgacctataataaaatatttt	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	469					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1405-1407)cTt>cCt		solute carrier family 40 (iron-regulated transporter), member 1							25	25	25					2																	190426914		2201	4299	6500	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190426914A>G	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1406T>C	2.37:g.190426914A>G	ENSP00000261024:p.Leu469Pro						p.L469P	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		8	1832	-			469					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.1406T>C	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920082	0.73098	.	.	ENSG00000138449	ENST00000261024	D	0.97016	-4.21	5.92	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.053633	0.85682	N	0.000000	D	0.98049	0.9357	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98278	1.0507	10	0.87932	D	0	-12.7045	11.7231	0.51693	0.9315:0.0:0.0685:0.0	.	469	Q9NP59	S40A1_HUMAN	P	469	ENSP00000261024:L469P	ENSP00000261024:L469P	L	-	2	0	SLC40A1	190135159	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.339000	0.96797	1.078000	0.41014	0.477000	0.44152	CTT		0.284	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			41	121	0	0	0	1	0	41	121					G	190426914	A	G	190426914	3	3	79	1	0	0	0	0	1	0	0	0	14678	72	3	4	313	4	SLC40A1	2	190426914	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451753	190426914	52772459	3267	13584											
ASNSD1	54529	broad.mit.edu	37	chr2	190531602	190531602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctttaaatatgatgttGccacaagctgcattggagac	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	248					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(742-744)ttG>ttA		asparagine synthetase domain containing 1							86	91	90					2																	190531602		2202	4298	6500	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531602G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.744G>A	2.37:g.190531602G>A						ASNSD1_ENST00000607062.1_Intron	p.L248L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1157	+			248					D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.744G>A	CCDS2300.1																																																																																				0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		102	509	0	0	0	1	0	102	509					A	190531602	G	A	190531602	2	1	79	1	0	0	0	0	0	0	0	1	1050	1310	46	2		2	ASNSD1	2	190531602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104688	190531602	52667771	3268	13585											
ANKAR	150709	broad.mit.edu	37	chr2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaataggcatttcaaataGatgttaaggaacaaggagct	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	964						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTCAAATAGATGTTAAGGA	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2890-2892)Gat>Aat		ankyrin and armadillo repeat containing							41	42	42					2																	190593005		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190593005G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2890G>A	2.37:g.190593005G>A	ENSP00000427882:p.Asp964Asn					ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N	p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		14	2978	+			964					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2890G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810057	0.32053	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.87	3.95	0.45737	.	0.323646	0.23347	N	0.049164	T	0.24967	0.0606	L	0.44542	1.39	0.33538	D	0.594462	B	0.13145	0.007	B	0.16289	0.015	T	0.28332	-1.0047	10	0.66056	D	0.02	-26.6452	8.5771	0.33605	0.0923:0.1685:0.7392:0.0	.	40	E9PHS9	.	N	964;964;964;893;739;40	ENSP00000427882:D964N;ENSP00000313513:D964N;ENSP00000397243:D964N;ENSP00000393043:D893N;ENSP00000281412:D739N	ENSP00000281412:D739N	D	+	1	0	ANKAR	190301250	0.460000	0.25776	1.000000	0.80357	0.763000	0.43281	0.868000	0.27982	2.510000	0.84645	0.467000	0.42956	GAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		57	167	0	0	0	1	0	57	167					A	190593005	G	A	190593005	3	1	79	1	0	0	0	0	1	0	0	0	623	942	33	2	2940	2	ANKAR	2	190593005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61403	190593005	52606368	3269	13586											
PMS1	5378	broad.mit.edu	37	chr2	190728551	190728551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagtcacaaatgtcaCtaaaagatggcagaaaaaag	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	647					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAAATGTCACTAAAAGATGG	0.358			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1939-1941)Cta>Tta	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							113	123	119					2																	190728551		2203	4300	6503	SO:0001819	synonymous_variant	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728551C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1939C>T	2.37:g.190728551C>T						PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000447232.2_Intron	p.L647L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2172	+			647					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	c.1939C>T	CCDS2302.1																																																																																				0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			150	458	0	0	0	1	0	150	458					T	190728551	C	T	190728551	2	4	79	1	0	0	0	0	0	0	0	1	12184	564	20	2		2	PMS1	2	190728551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135546	190728551	52470822	3270	13587											
PMS1	5378	broad.mit.edu	37	chr2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagagtgtgttcatggtcGcccattttttcatcatttaa	7	7	3	1	rs147566508	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	919					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTCATGGTCGCCCATTTTTT	0.328			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					G|||	3	0.000599042	0.0023	0.0	5008	,	,		18981	0.0		0.0	False		,,,				2504	0.0					ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2755-2757)cGc>cAc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	114	112	113		2756,2639,2270	5.8	1	2	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	919/933,880/894,757/771	190742119	2,13004	2203	4300	6503	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190742119G>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2756G>A	2.37:g.190742119G>A	ENSP00000406490:p.Arg919His					PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000447232.2_Missense_Mutation_p.R757H	p.R919H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		13	2989	+			919					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2756G>A	CCDS2302.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.78	3.472864	0.63737	4.54E-4	0.0	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97752	-2.89;-2.69;-3.08;-3.29;-2.69;-4.52	5.76	5.76	0.90799	.	0.101764	0.64402	D	0.000001	D	0.96568	0.8880	L	0.47190	1.495	0.45216	D	0.998228	B;D;D;D;D	0.57257	0.066;0.977;0.979;0.978;0.963	B;P;B;B;B	0.48654	0.01;0.585;0.363;0.299;0.363	D	0.96294	0.9216	10	0.87932	D	0	-6.5663	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	235;542;880;757;919	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	H	919;743;880;757;743;542	ENSP00000406490:R919H;ENSP00000404492:R743H;ENSP00000387125:R880H;ENSP00000401064:R757H;ENSP00000398378:R743H;ENSP00000387169:R542H	ENSP00000387169:R542H	R	+	2	0	PMS1	190450364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.657000	0.67996	2.882000	0.98803	0.655000	0.94253	CGC		0.328	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			59	170	0	0	0	1	0	59	170					A	190742119	G	A	190742119	3	1	79	1	0	0	0	0	1	0	0	0	12184	1087	38	1	2802	1	PMS1	2	190742119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13568	190742119	52457254	3271	13588											
MSTN	2660	broad.mit.edu	37	chr2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccaaataccagtgcCtgggttcatgtcaagtttca	9	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	199					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(595-597)Ggc>Tgc		myostatin							210	195	200					2																	190924940		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190924940C>A	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.595G>T	2.37:g.190924940C>A	ENSP00000260950:p.Gly199Cys					C2orf88_ENST00000478197.1_Intron	p.G199C	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	727	-			199					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.595G>T	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846205	0.71603	.	.	ENSG00000138379	ENST00000260950	T	0.71817	-0.6	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	1.956010	0.03705	U	0.249212	D	0.86121	0.5857	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73959	-0.3818	10	0.87932	D	0	-9.579	16.2783	0.82656	0.0:0.8676:0.1324:0.0	.	199	O14793	GDF8_HUMAN	C	199	ENSP00000260950:G199C	ENSP00000260950:G199C	G	-	1	0	MSTN	190633185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.668000	0.46816	2.718000	0.92993	0.650000	0.86243	GGC		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		143	653	1	0	1.94422e-76	1	2.48084e-76	143	653					A	190924940	C	A	190924940	3	1	79	1	0	0	0	0	1	0	0	0	9934	681	24	3	540	3	MSTN	2	190924940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182821	190924940	52274433	3272	13589											
C2orf88	84281	broad.mit.edu	37	chr2	191064772	191064772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatcttggaatatgcAcaccgcctgtctcaggatat	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000396974.2_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000409870.1_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	62	PKA-RI-binding.					plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(184-186)gcA>gcG		chromosome 2 open reading frame 88							196	197	197					2																	191064772		2001	4168	6169	SO:0001819	synonymous_variant	84281							g.chr2:191064772A>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"small membrane AKAP"	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.186A>G	2.37:g.191064772A>G						C2orf88_ENST00000396974.2_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000409870.1_Silent_p.A62A	p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	597	+			62					D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	37	c.186A>G	CCDS42792.1																																																																																				0.468	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		149	817	0	0	0	1	0	149	817					G	191064772	A	G	191064772	2	3	79	1	0	0	0	0	0	0	0	1	2209	146	6	4		4	C2orf88	2	191064772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139832	191064772	52134601	3273	13590											
MFSD6	54842	broad.mit.edu	37	chr2	191301736	191301736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatcgctatgggttgcaGcgcatgtggggctccctggg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	327					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(979-981)caG>caA		major facilitator superfamily domain containing 6							108	108	108					2																	191301736		2203	4300	6503	SO:0001819	synonymous_variant	54842				transmembrane transport	integral to membrane		g.chr2:191301736G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.981G>A	2.37:g.191301736G>A						MFSD6_ENST00000281416.7_Silent_p.Q327Q	p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1305	+			327					D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	c.981G>A	CCDS2306.1																																																																																				0.532	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			209	573	0	0	0	1	0	209	573					A	191301736	G	A	191301736	2	1	79	1	0	0	0	0	0	0	0	1	9576	962	34	2		2	MFSD6	2	191301736	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236964	191301736	51897637	3274	13591											
GLS	2744	broad.mit.edu	37	chr2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaactgaatatgtgcatcGatatgttggaaaagagccga	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	307					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353																																						ENST00000320717.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(919-921)cGa>cAa		glutaminase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						134	132	133					2																	191769834		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191769834G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.920G>A	2.37:g.191769834G>A	ENSP00000317379:p.Arg307Gln					GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		6	1178	+			307					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.920G>A	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490238	0.64074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.03115	-0.41	0.80722	D	1	B;B	0.29531	0.046;0.247	B;B	0.14578	0.01;0.011	T	0.19224	-1.0312	10	0.06494	T	0.89	-9.0891	20.3429	0.98773	0.0:0.0:1.0:0.0	.	307;307	O94925;O94925-3	GLSK_HUMAN;.	Q	307	ENSP00000317379:R307Q;ENSP00000340689:R307Q	ENSP00000317379:R307Q	R	+	2	0	GLS	191478079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.881000	0.98747	0.650000	0.86243	CGA		0.353	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			53	237	0	0	0	1	0	53	237					A	191769834	G	A	191769834	3	1	79	1	0	0	0	0	1	0	0	0	6492	1058	37	1	942	1	GLS	2	191769834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	468098	191769834	51429539	3275	13592											
STAT1	6772	broad.mit.edu	37	chr2	191840588	191840588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatccagttcctttaggGccatcaagttccattggctc	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000361099.3	-	23	2472	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G|STAT1_ENST00000392322.3_Silent_p.G695G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	695					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTCCTTTAGGGCCATCAAGTT	0.423																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2083-2085)ggC>ggT		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						119	104	109					2																	191840588		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191840588G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2085C>T	2.37:g.191840588G>A						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G|STAT1_ENST00000392322.3_Silent_p.G695G	p.G695G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		23	2472	-			695					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.2085C>T	CCDS2309.1																																																																																				0.423	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		50	162	0	0	0	1	0	50	162					A	191840588	G	A	191840588	2	1	79	1	0	0	0	0	0	0	0	1	15316	1190	42	2		2	STAT1	2	191840588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70754	191840588	51358785	3276	13593											
STAT1	6772	broad.mit.edu	37	chr2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcattcgttctggtgccaGcatttttctgttctttcaat	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000361099.3	-	15	1631	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D|STAT1_ENST00000392322.3_Missense_Mutation_p.A415D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	415					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCTGGTGCCAGCATTTTTCTG	0.413																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1243-1245)gCt>gAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						167	150	156					2																	191850364		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191850364G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1244C>A	2.37:g.191850364G>T	ENSP00000354394:p.Ala415Asp					STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D|STAT1_ENST00000392322.3_Missense_Mutation_p.A415D	p.A415D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		15	1631	-			415					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1244C>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.11	5.11	0.69529	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.054833	0.64402	D	0.000001	D	0.89722	0.6797	M	0.69248	2.105	0.80722	D	1	P;P	0.44734	0.842;0.622	P;B	0.51615	0.675;0.222	D	0.90598	0.4542	10	0.87932	D	0	-18.3653	12.9372	0.58322	0.0792:0.0:0.9208:0.0	.	415;415	P42224-2;P42224	.;STAT1_HUMAN	D	415;415;415;417	ENSP00000354394:A415D;ENSP00000386244:A415D;ENSP00000376136:A415D;ENSP00000376137:A417D	ENSP00000354394:A415D	A	-	2	0	STAT1	191558609	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	6.286000	0.72665	2.535000	0.85469	0.655000	0.94253	GCT		0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		74	218	1	0	1.78839e-46	1	2.19748e-46	74	218					T	191850364	G	T	191850364	3	4	79	1	0	0	0	0	1	0	0	0	15316	971	34	3	1056	3	STAT1	2	191850364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9776	191850364	51349009	3277	13594											
STAT4	6775	broad.mit.edu	37	chr2	191905836	191905836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagatctgtgtttcaaaCgttatggaatgaagttcttc	10	6	3	2	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	430					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTGTTTCAAACGTTATGGAAT	0.383																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1288-1290)acG>acA		signal transducer and activator of transcription 4		T		3,4403	6.2+/-15.9	0,3,2200	136	128	131		1290	0.9	1	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	STAT4	NM_003151.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		430/749	191905836	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191905836C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1290G>A	2.37:g.191905836C>T						STAT4_ENST00000358470.4_Silent_p.T430T|STAT4_ENST00000470708.1_5'UTR	p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		15	1604	-			430					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.1290G>A	CCDS2310.1																																																																																				0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		125	409	0	0	0	1	0	125	409					T	191905836	C	T	191905836	2	4	79	1	0	0	0	0	0	0	0	1	15319	523	19	1		1	STAT4	2	191905836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55472	191905836	51293537	3278	13595											
MYO1B	4430	broad.mit.edu	37	chr2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagatcttttagagaaatCtcgggttgttaaacagccaa	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	193	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTAGAGAAATCTCGGGTTGTT	0.388																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(577-579)tCt>tAt		myosin IB							181	188	186					2																	192225372		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225372C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.578C>A	2.37:g.192225372C>A	ENSP00000376132:p.Ser193Tyr					MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	825	+			193			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.578C>A	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712950	0.89112	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98855	1.0760	10	0.87932	D	0	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	193;193	O43795;O43795-2	MYO1B_HUMAN;.	Y	193	ENSP00000341903:S193Y;ENSP00000376132:S193Y;ENSP00000306382:S193Y;ENSP00000388140:S193Y;ENSP00000376130:S193Y	ENSP00000306382:S193Y	S	+	2	0	MYO1B	191933617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.073000	0.76784	2.681000	0.91329	0.655000	0.94253	TCT		0.388	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		54	906	1	0	4.00472e-15	1	4.3668e-15	54	906					A	192225372	C	A	192225372	3	1	79	1	0	0	0	0	1	0	0	0	10110	913	32	3	604	3	MYO1B	2	192225372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319536	192225372	50974001	3279	13596											
MYO1B	4430	broad.mit.edu	37	chr2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttttcatggttggtaaatCgaatcaatgaaagcattaag	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTGGTAAATCGAATCAATGA	0.318																																						ENST00000392318.3																			2	Substitution - Nonsense(2)	p.R367*(2)	large_intestine(2)	NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1099-1101)Cga>Tga		myosin IB							73	73	73					2																	192234334		2203	4300	6503	SO:0001587	stop_gained	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192234334C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1099C>T	2.37:g.192234334C>T	ENSP00000376132:p.Arg367*					MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		12	1346	+			367			Myosin head-like.		O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	c.1099C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	MYO1B	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA		0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		39	374	0	0	0	1	0	39	374					T	192234334	C	T	192234334	4	4	79	1	0	0	0	0	0	1	0	0	10110	876	31	1	1141	1	MYO1B	2	192234334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8962	192234334	50965039	3280	13597											
MYO1B	4430	broad.mit.edu	37	chr2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcagttgctgtcatTtgggcttactggcttggact	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	844	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGCTGTCATTTGGGCTTACT	0.448																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2530-2532)atT>atG		myosin IB							174	140	151					2																	192267420		1568	3582	5150	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192267420T>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2532T>G	2.37:g.192267420T>G	ENSP00000376132:p.Ile844Met					MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	p.I844M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		24	2779	+			844			IQ 6.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2532T>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314215	0.81358	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.88354	-2.37;-2.37;-1.28;-1.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.54753	D	0.999982	D;D	0.59357	0.985;0.98	P;D	0.66979	0.724;0.948	D	0.90115	0.4195	10	0.56958	D	0.05	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	89;844	E7EPB4;O43795	.;MYO1B_HUMAN	M	844;844;815;89	ENSP00000376132:I844M;ENSP00000306382:I844M;ENSP00000376130:I815M;ENSP00000391442:I89M	ENSP00000306382:I844M	I	+	3	3	MYO1B	191975665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.180000	0.69256	0.459000	0.35465	ATT		0.448	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		51	116	0	0	0	1	0	51	116					G	192267420	T	G	192267420	3	3	79	1	0	0	0	0	1	0	0	0	10110	1829	64	4	2622	4	MYO1B	2	192267420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33086	192267420	50931953	3281	13598											
MYO1B	4430	broad.mit.edu	37	chr2	192288586	192288586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacagttcagacaggAcaaagtatgtgtgaagttta	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192288586A>G	ENST00000392318.3	+	31	3558	c.3311A>G	c.(3310-3312)gAc>gGc	p.D1104G	MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCAGACAGGACAAAGTATGT	0.358																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(3310-3312)gAc>gGc		myosin IB							110	111	111					2																	192288586		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192288586A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3311A>G	2.37:g.192288586A>G	ENSP00000376132:p.Asp1104Gly					MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	p.D1104G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		31	3558	+			1104					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.3311A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225845	0.39300	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.78	5.78	0.91487	Myosin tail 2 (1);	0.048029	0.85682	D	0.000000	T	0.29093	0.0723	N	0.16166	0.38	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.006;0.003	D;B;B	0.91635	0.999;0.012;0.007	T	0.05784	-1.0864	10	0.02654	T	1	.	14.6915	0.69091	1.0:0.0:0.0:0.0	.	349;1104;1046	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	G	1046;1104;1104;1075;349	ENSP00000341903:D1046G;ENSP00000376132:D1104G;ENSP00000306382:D1104G;ENSP00000376130:D1075G;ENSP00000391442:D349G	ENSP00000306382:D1104G	D	+	2	0	MYO1B	191996831	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.458000	0.90364	2.205000	0.71048	0.533000	0.62120	GAC		0.358	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		15	647	0	0	0	1	0	15	647					G	192288586	A	G	192288586	3	3	79	1	0	0	0	0	1	0	0	0	10110	275	10	4	3429	4	MYO1B	2	192288586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21166	192288586	50910787	3282	13599											
SDPR	8436	broad.mit.edu	37	chr2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggaggcctggtactTggagagcttggtgaggtcat	18	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCCTGGTACTTGGAGAGCTTG	0.597																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(304-306)Aag>Gag		serum deprivation response	Phosphatidylserine(DB00144)						97	84	89					2																	192711348		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711348T>C	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.304A>G	2.37:g.192711348T>C	ENSP00000305675:p.Lys102Glu					AC098617.1_ENST00000424116.2_RNA	p.K102E	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	633	-			102						Missense_Mutation	SNP	ENST00000304141.4	37	c.304A>G	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188182	0.57909	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	4.62	3.46	0.39613	.	0.135593	0.48767	N	0.000174	T	0.62816	0.2459	M	0.77313	2.365	0.42605	D	0.993296	P	0.38827	0.649	B	0.41510	0.359	T	0.65043	-0.6264	10	0.72032	D	0.01	-26.7125	7.3259	0.26555	0.0:0.0811:0.1555:0.7634	.	102	O95810	SDPR_HUMAN	E	102	ENSP00000305675:K102E	ENSP00000305675:K102E	K	-	1	0	SDPR	192419593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.051000	0.57412	0.904000	0.36572	0.397000	0.26171	AAG		0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		45	232	0	0	0	1	0	45	232					C	192711348	T	C	192711348	3	2	79	1	0	0	0	0	1	0	0	0	14020	1821	63	4	981	4	SDPR	2	192711348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	422762	192711348	50488025	3283	13600											
SDPR	8436	broad.mit.edu	37	chr2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctggttctcctgcacaGcgtctagcatgttcaccagc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTCCTGCACAGCGTCTAGCAT	0.567																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(211-213)gCt>gAt		serum deprivation response	Phosphatidylserine(DB00144)						115	93	101					2																	192711440		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711440G>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.212C>A	2.37:g.192711440G>T	ENSP00000305675:p.Ala71Asp					AC098617.1_ENST00000424116.2_RNA	p.A71D	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	541	-			71						Missense_Mutation	SNP	ENST00000304141.4	37	c.212C>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013014	0.35511	.	.	ENSG00000168497	ENST00000304141	T	0.59772	0.24	4.62	2.81	0.32909	.	0.896645	0.09759	N	0.759491	T	0.53158	0.1779	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.36766	0.232	T	0.40646	-0.9552	10	0.49607	T	0.09	-2.8248	10.7159	0.46013	0.1554:0.0:0.8446:0.0	.	71	O95810	SDPR_HUMAN	D	71	ENSP00000305675:A71D	ENSP00000305675:A71D	A	-	2	0	SDPR	192419685	0.276000	0.24211	0.431000	0.26735	0.965000	0.64279	3.132000	0.50523	0.674000	0.31244	0.484000	0.47621	GCT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		82	252	1	0	4.63251e-29	1	5.40574e-29	82	252					T	192711440	G	T	192711440	3	4	79	1	0	0	0	0	1	0	0	0	14020	971	34	3	1073	3	SDPR	2	192711440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	192711440	50487933	3284	13601											
DNAH7	56171	broad.mit.edu	37	chr2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatattctgagtttgaGctgctgtagtttgtgctgag	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2013	AAA 3. {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)			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						CTGAGTTTGAGCTGCTGTAGT	0.323																																						ENST00000312428.6																			0				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						c.(6037-6039)gCt>gAt		dynein, axonemal, heavy chain 7							155	139	144					2																	196741347		1834	4083	5917	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741347G>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.6038C>A	2.37:g.196741347G>T	ENSP00000311273:p.Ala2013Asp						p.A2013D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			37	6138	-			2013			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6038C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298407	0.60195	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.055211	0.64402	D	0.000001	T	0.50411	0.1614	L	0.58510	1.815	0.80722	D	1	B	0.29270	0.24	B	0.39771	0.309	T	0.40720	-0.9548	10	0.36615	T	0.2	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	2013	Q8WXX0	DYH7_HUMAN	D	2013	ENSP00000311273:A2013D	ENSP00000311273:A2013D	A	-	2	0	DNAH7	196449592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.890000	0.99128	0.585000	0.79938	GCT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		38	439	1	0	2.87052e-16	1	3.15093e-16	38	439					T	196741347	G	T	196741347	3	4	79	1	0	0	0	0	1	0	0	0	4622	971	34	3	6152	3	DNAH7	2	196741347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4029907	196741347	46458026	3285	13602											
DNAH7	56171	broad.mit.edu	37	chr2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaaacacttttcccagttCctgttggtcctacaaatatt	5	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	AAA 3. {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)			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						TTTCCCAGTTCCTGTTGGTCC	0.368																																						ENST00000312428.6																			0				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						c.(5935-5937)gGa>gAa		dynein, axonemal, heavy chain 7							158	144	148					2																	196746544		1839	4087	5926	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746544C>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.5936G>A	2.37:g.196746544C>T	ENSP00000311273:p.Gly1979Glu						p.G1979E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	6036	-			1979			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5936G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506106	0.85282	.	.	ENSG00000118997	ENST00000312428	D	0.90620	-2.7	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98479	1.0604	10	0.87932	D	0	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1979	Q8WXX0	DYH7_HUMAN	E	1979	ENSP00000311273:G1979E	ENSP00000311273:G1979E	G	-	2	0	DNAH7	196454789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.237000	0.78164	2.665000	0.90641	0.585000	0.79938	GGA		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		83	504	0	0	0	1	0	83	504					T	196746544	C	T	196746544	3	4	79	1	0	0	0	0	1	0	0	0	4622	855	30	2	6258	2	DNAH7	2	196746544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5197	196746544	46452829	3286	13603											
DNAH7	56171	broad.mit.edu	37	chr2	196746672	196746672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctttaggaattggaggAgcttctttcaatttctttat	7	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1936					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)			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						GAATTGGAGGAGCTTCTTTCA	0.333																																						ENST00000312428.6																			0				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						c.(5806-5808)gcT>gcC		dynein, axonemal, heavy chain 7							119	111	114					2																	196746672		1829	4077	5906	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746672A>G	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.5808T>C	2.37:g.196746672A>G							p.A1936A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	5908	-			1936					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5808T>C	CCDS42794.1																																																																																				0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		44	288	0	0	0	1	0	44	288					G	196746672	A	G	196746672	2	3	79	1	0	0	0	0	0	0	0	1	4622	291	11	4		4	DNAH7	2	196746672	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128	196746672	46452701	3287	13604											
DNAH7	56171	broad.mit.edu	37	chr2	196788367	196788367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcaaagtcagagtcatcGctaatatttttttttacaag	5	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1259	Stem. {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)			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						CAGAGTCATCGCTAATATTTT	0.403																																						ENST00000312428.6																			0				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						c.(3775-3777)agC>agT		dynein, axonemal, heavy chain 7							99	92	94					2																	196788367		1910	4143	6053	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788367G>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.3777C>T	2.37:g.196788367G>A							p.S1259S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3877	-			1259			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3777C>T	CCDS42794.1																																																																																				0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		51	276	0	0	0	1	0	51	276					A	196788367	G	A	196788367	2	1	79	1	0	0	0	0	0	0	0	1	4622	1078	38	1		1	DNAH7	2	196788367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41695	196788367	46411006	3288	13605											
HECW2	57520	broad.mit.edu	37	chr2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgccgatgaaccagcGcacttgtgggtctactgctc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.3	-	15	3265	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1028	Interaction with TP73.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAACCAGCGCACTTGTGGG	0.537																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3082-3084)gCg>gTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							155	127	136					2																	197143304		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197143304G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3083C>T	2.37:g.197143304G>A	ENSP00000260983:p.Ala1028Val					HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	p.A1028V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			15	3265	-			1028			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3083C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320375	0.23994	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84298	-1.83;-1.83	5.28	5.28	0.74379	.	0.129557	0.53938	D	0.000045	T	0.68943	0.3056	N	0.14661	0.345	0.42479	D	0.992858	P	0.43938	0.822	B	0.30716	0.119	T	0.71922	-0.4446	10	0.28530	T	0.3	.	13.9925	0.64376	0.0:0.0:0.8487:0.1513	.	1028	Q9P2P5	HECW2_HUMAN	V	672;1028	ENSP00000386775:A672V;ENSP00000260983:A1028V	ENSP00000260983:A1028V	A	-	2	0	HECW2	196851549	1.000000	0.71417	0.565000	0.28409	0.083000	0.17756	5.769000	0.68865	2.745000	0.94114	0.655000	0.94253	GCG		0.537	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		18	349	0	0	0	1	0	18	349					A	197143304	G	A	197143304	3	1	79	1	0	0	0	0	1	0	0	0	7073	1087	38	1	1695	1	HECW2	2	197143304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354937	197143304	46056069	3289	13606											
HECW2	57520	broad.mit.edu	37	chr2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggtgggtgtccctccGgactttggtgatcatgtgct	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.3	-	14	3054	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	958	Interaction with TP73.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGTCCCTCCGGACTTTGGTG	0.493																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2872-2874)Cgg>Tgg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							129	103	112					2																	197157417		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197157417G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2872C>T	2.37:g.197157417G>A	ENSP00000260983:p.Arg958Trp					HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	p.R958W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			14	3054	-			958			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2872C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771237	0.90108	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85339	-1.97;-1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91818	0.5465	10	0.87932	D	0	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	958	Q9P2P5	HECW2_HUMAN	W	602;958	ENSP00000386775:R602W;ENSP00000260983:R958W	ENSP00000260983:R958W	R	-	1	2	HECW2	196865662	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.238000	0.95380	2.617000	0.88574	0.655000	0.94253	CGG		0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		50	254	0	0	0	1	0	50	254					A	197157417	G	A	197157417	3	1	79	1	0	0	0	0	1	0	0	0	7073	1115	39	1	1910	1	HECW2	2	197157417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14113	197157417	46041956	3290	13607											
HECW2	57520	broad.mit.edu	37	chr2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggcaggatcactgGgttctgtttcagaggacacc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.3	-	9	2029	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	616					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGATCACTGGGTTCTGTTTC	0.587																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1846-1848)cCc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							61	52	55					2																	197183767		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183767G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1847C>A	2.37:g.197183767G>T	ENSP00000260983:p.Pro616His					HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	p.P616H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2029	-			616					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1847C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516234	0.44763	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.4	5.4	0.78164	.	1.163250	0.06052	N	0.656663	T	0.27798	0.0684	N	0.14661	0.345	0.39650	D	0.970454	D	0.52996	0.957	P	0.45998	0.5	T	0.04767	-1.0928	10	0.38643	T	0.18	.	13.4478	0.61151	0.0:0.0:0.8336:0.1664	.	616	Q9P2P5	HECW2_HUMAN	H	260;616	ENSP00000386775:P260H;ENSP00000260983:P616H	ENSP00000260983:P616H	P	-	2	0	HECW2	196892012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.361000	0.52306	2.813000	0.96785	0.561000	0.74099	CCC		0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		63	140	1	0	1.80625e-27	1	2.09175e-27	63	140					T	197183767	G	T	197183767	3	4	79	1	0	0	0	0	1	0	0	0	7073	1232	43	3	2955	3	HECW2	2	197183767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26350	197183767	46015606	3291	13608											
HECW2	57520	broad.mit.edu	37	chr2	197184558	197184558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatgtcctcgtcatcGgaagggctacctaagtctcc	10	14	2	0	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.3	-	9	1238	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	352					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCGTCATCGGAAGGGCTAC	0.493																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1054-1056)tcC>tcT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							79	69	72					2																	197184558		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184558G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1056C>T	2.37:g.197184558G>A						HECW2_ENST00000409111.1_5'UTR	p.S352S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1238	-			352					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1056C>T	CCDS33354.1																																																																																				0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		55	274	0	0	0	1	0	55	274					A	197184558	G	A	197184558	2	1	79	1	0	0	0	0	0	0	0	1	7073	1103	39	1		1	HECW2	2	197184558	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	197184558	46014815	3292	13609											
HECW2	57520	broad.mit.edu	37	chr2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtgtactcgtacatgCtggcagttaagctggagcgg	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	64					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTACATGCTGGCAGTTAA	0.547																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(190-192)aGc>aAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							82	74	77					2																	197297957		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197297957C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.191G>A	2.37:g.197297957C>T	ENSP00000260983:p.Ser64Asn						p.S64N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	373	-			64					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.191G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915329	0.92178	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	.	0.105732	0.64402	D	0.000003	T	0.65606	0.2707	M	0.76328	2.33	0.48288	D	0.999629	P	0.49090	0.919	D	0.64321	0.924	T	0.67875	-0.5557	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	64	Q9P2P5	HECW2_HUMAN	N	64	ENSP00000260983:S64N;ENSP00000409918:S64N;ENSP00000395770:S64N	ENSP00000260983:S64N	S	-	2	0	HECW2	197006202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.216000	0.72212	2.736000	0.93811	0.561000	0.74099	AGC		0.547	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		127	326	0	0	0	1	0	127	326					T	197297957	C	T	197297957	3	4	79	1	0	0	0	0	1	0	0	0	7073	797	28	2	4639	2	HECW2	2	197297957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113399	197297957	45901416	3293	13610											
HECW2	57520	broad.mit.edu	37	chr2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggctcaatgtgtaccgcatCtggggatttcgacgcctcac	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	18					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGTACCGCATCTGGGGATTTC	0.592																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(52-54)caG>caT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							77	68	71					2																	197298094		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298094C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.54G>T	2.37:g.197298094C>A	ENSP00000260983:p.Gln18His						p.Q18H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	236	-			18					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.54G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821395	0.16678	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35973	1.28;1.28;1.28	5.27	3.43	0.39272	.	0.219450	0.41001	N	0.000968	T	0.17746	0.0426	N	0.08118	0	0.29858	N	0.827875	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.38643	T	0.18	.	8.2327	0.31608	0.1562:0.7657:0.0:0.0782	.	18	Q9P2P5	HECW2_HUMAN	H	18	ENSP00000260983:Q18H;ENSP00000409918:Q18H;ENSP00000395770:Q18H	ENSP00000260983:Q18H	Q	-	3	2	HECW2	197006339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.697000	0.37784	0.758000	0.33059	0.561000	0.74099	CAG		0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		13	440	1	0	2.68362e-12	1	2.87888e-12	13	440					A	197298094	C	A	197298094	3	1	79	1	0	0	0	0	1	0	0	0	7073	912	32	3	4776	3	HECW2	2	197298094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	197298094	45901279	3294	13611											
CCDC150	284992	broad.mit.edu	37	chr2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagctaatctggaagaagCtcatcgctggtttaagcaca	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D|CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1031										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAAGAAGCTCATCGCTGG	0.393																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(3091-3093)gCt>gAt		coiled-coil domain containing 150							85	83	84					2																	197596779		1836	4087	5923	SO:0001583	missense	284992							g.chr2:197596779C>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3092C>A	2.37:g.197596779C>A	ENSP00000373827:p.Ala1031Asp					CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D|CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D	p.A1031D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			27	3227	+			1031					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.3092C>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769785	0.31320	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.57907	0.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	T	0.67011	0.2848	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.865	D;B	0.87578	0.998;0.301	T	0.65928	-0.6049	10	0.48119	T	0.1	-6.3465	15.6931	0.77469	0.0:1.0:0.0:0.0	.	678;1031	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	678;1031;518	ENSP00000373827:A1031D	ENSP00000272831:A678D	A	+	2	0	CCDC150	197305024	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.822000	0.48073	2.679000	0.91253	0.650000	0.86243	GCT		0.393	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		70	205	1	0	3.73176e-21	1	4.1971e-21	70	205					A	197596779	C	A	197596779	3	1	79	1	0	0	0	0	1	0	0	0	2792	797	28	3	3198	3	CCDC150	2	197596779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298685	197596779	45602594	3295	13612											
GTF3C3	9330	broad.mit.edu	37	chr2	197631301	197631301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaatacctctaccacaagTggagggagctccagggcctt	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	842					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACAAGTGGAGGGAGCT	0.448																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2524-2526)ccA>ccG		general transcription factor IIIC, polypeptide 3, 102kDa							84	82	83					2																	197631301		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197631301T>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2526A>G	2.37:g.197631301T>C							p.P842P	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			17	2615	-			842					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.2526A>G	CCDS2316.1																																																																																				0.448	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			15	400	0	0	0	1	0	15	400					C	197631301	T	C	197631301	2	2	79	1	0	0	0	0	0	0	0	1	6904	1683	59	4		4	GTF3C3	2	197631301	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34522	197631301	45568072	3296	13613											
GTF3C3	9330	broad.mit.edu	37	chr2	197654005	197654005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaatacgcctataaccAtccatggccattttatgatc	4	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	272					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCCTATAACCATCCATGGCCA	0.398																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(814-816)gaT>gaC		general transcription factor IIIC, polypeptide 3, 102kDa							118	107	111					2																	197654005		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197654005A>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.816T>C	2.37:g.197654005A>G						GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Silent_p.D272D	p.D272D	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			6	905	-			272					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.816T>C	CCDS2316.1																																																																																				0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			89	231	0	0	0	1	0	89	231					G	197654005	A	G	197654005	2	3	79	1	0	0	0	0	0	0	0	1	6904	214	8	4		4	GTF3C3	2	197654005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22704	197654005	45545368	3297	13614											
C2orf66	401027	broad.mit.edu	37	chr2	197672174	197672174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagaaactttcagcctTtgagataattgtgaaaggag	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197672174T>C	ENST00000342506.2	-	2	1235	c.347A>G	c.(346-348)aAa>aGa	p.K116R		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	116						extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CTTTCAGCCTTTGAGATAATT	0.378																																						ENST00000342506.2																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(346-348)aAa>aGa		chromosome 2 open reading frame 66							68	70	69					2																	197672174		2203	4300	6503	SO:0001583	missense	401027					extracellular region		g.chr2:197672174T>C		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.347A>G	2.37:g.197672174T>C	ENSP00000339384:p.Lys116Arg						p.K116R	NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN			2	1235	-			116					B2RNW3	Missense_Mutation	SNP	ENST00000342506.2	37	c.347A>G	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294898	0.23564	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.62	-0.661	0.11417	.	0.528444	0.17118	N	0.186352	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.20174	-1.0283	9	0.24483	T	0.36	-0.8599	5.9745	0.19371	0.0:0.3126:0.1355:0.5519	.	116	Q6UXQ4	CB066_HUMAN	R	116	.	ENSP00000339384:K116R	K	-	2	0	C2orf66	197380419	0.241000	0.23857	0.245000	0.24217	0.299000	0.27559	0.232000	0.17891	-0.011000	0.14247	-0.374000	0.07098	AAA		0.378	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		10	395	0	0	0	1	0	10	395					C	197672174	T	C	197672174	3	2	79	1	0	0	0	0	1	0	0	0	2192	1841	64	4	10	4	C2orf66	2	197672174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18169	197672174	45527199	3298	13615											
PGAP1	80055	broad.mit.edu	37	chr2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttggtaatcccggaatcCtccagctacagaaagtgtgg	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.4	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCGGAATCCTCCAGCTACA	0.363																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(727-729)Gga>Tga		post-GPI attachment to proteins 1							89	96	94					2																	197767389		2203	4300	6503	SO:0001587	stop_gained	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767389C>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.727G>T	2.37:g.197767389C>A	ENSP00000346809:p.Gly243*					PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	p.G243*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			5	841	-			243					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	37	c.727G>T	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947838	0.97134	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3279	18.3984	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	X	243;243;201	.	ENSP00000346809:G243X	G	-	1	0	PGAP1	197475634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.573000	0.86826	0.655000	0.94253	GGA		0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		17	406	1	0	9.7654e-05	1	9.93505e-05	17	406					A	197767389	C	A	197767389	4	1	79	1	0	0	0	0	0	1	0	0	11819	690	24	3	2133	3	PGAP1	2	197767389	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95215	197767389	45431984	3299	13616											
HSPD1	3329	broad.mit.edu	37	chr2	198361910	198361910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctaatcttctcgaaGccttccttggctatagagcg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_ENST00000345042.2_Silent_p.G127G|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	127					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(379-381)ggC>ggT		heat shock 60kDa protein 1 (chaperonin)							124	117	119					2																	198361910		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198361910G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.381C>T	2.37:g.198361910G>A						HSPD1_ENST00000544407.1_Silent_p.G127G|HSPD1_ENST00000345042.2_Silent_p.G127G	p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		3	648	-			127					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.381C>T	CCDS33357.1																																																																																				0.453	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		81	375	0	0	0	1	0	81	375					A	198361910	G	A	198361910	2	1	79	1	0	0	0	0	0	0	0	1	7458	958	34	2		2	HSPD1	2	198361910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594521	198361910	44837463	3300	13617											
HSPD1	3329	broad.mit.edu	37	chr2	198363459	198363459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacaccttgaagcattaaGgctcgggcatctgcaccaaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363459G>T	ENST00000388968.3	-	2	381	c.114C>A	c.(112-114)gcC>gcA	p.A38A	HSPD1_ENST00000345042.2_Silent_p.A38A|HSPE1_ENST00000409468.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.A38A|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	38					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.A38A(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAAGCATTAAGGCTCGGGCAT	0.458																																						ENST00000388968.3																			1	Substitution - coding silent(1)	p.A38A(1)	skin(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(112-114)gcC>gcA		heat shock 60kDa protein 1 (chaperonin)							80	84	83					2																	198363459		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363459G>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.114C>A	2.37:g.198363459G>T						HSPD1_ENST00000544407.1_Silent_p.A38A|HSPD1_ENST00000345042.2_Silent_p.A38A	p.A38A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	381	-			38					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.114C>A	CCDS33357.1																																																																																				0.458	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		20	501	1	0	2.48779e-11	1	2.65321e-11	20	501					T	198363459	G	T	198363459	2	4	79	1	0	0	0	0	0	0	0	1	7458	987	35	3		3	HSPD1	2	198363459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1549	198363459	44835914	3301	13618											
HSPD1	3329	broad.mit.edu	37	chr2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagactgtgggtaaccgaaGcatttctggggatggaagca	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPE1_ENST00000409468.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	2					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(4-6)Ctt>Ttt		heat shock 60kDa protein 1 (chaperonin)							40	37	38					2																	198363569		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363569G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.4C>T	2.37:g.198363569G>A	ENSP00000373620:p.Leu2Phe					HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F	p.L2F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	271	-			2					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.4C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962992	0.53507	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.77358	-0.45;-0.45;-0.1;-0.1;-0.1;-0.83;-1.07;-1.07;-1.09	4.87	4.87	0.63330	.	0.059874	0.64402	D	0.000002	T	0.59824	0.2222	N	0.04724	-0.175	0.53688	D	0.999974	B;B;B;B	0.13145	0.007;0.001;0.001;0.002	B;B;B;B	0.15052	0.012;0.005;0.005;0.003	T	0.55866	-0.8073	10	0.15952	T	0.53	-4.9447	18.3608	0.90374	0.0:0.0:1.0:0.0	.	2;2;2;2	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	F	2;2;2;2;2;44;2;2;2	ENSP00000373620:L2F;ENSP00000340019:L2F;ENSP00000393670:L2F;ENSP00000412717:L2F;ENSP00000441296:L2F;ENSP00000414446:L44F;ENSP00000396460:L2F;ENSP00000402478:L2F;ENSP00000412227:L2F	ENSP00000340019:L2F	L	-	1	0	HSPD1	198071814	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.311000	0.72835	2.414000	0.81942	0.585000	0.79938	CTT		0.512	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		36	174	0	0	0	1	0	36	174					A	198363569	G	A	198363569	3	1	79	1	0	0	0	0	1	0	0	0	7458	971	34	2	1761	2	HSPD1	2	198363569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	198363569	44835804	3302	13619											
MOBKL3	25843	broad.mit.edu	37	chr2	198405148	198405148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgtgcagctcataAaactccaaaagaggtgagga	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198405148A>C	ENST00000323303.4	+	5	596	c.341A>C	c.(340-342)aAa>aCa	p.K114T	MOB4_ENST00000448447.2_Missense_Mutation_p.K93T|MOB4_ENST00000409360.1_Missense_Mutation_p.K82T|MOB4_ENST00000233892.4_Missense_Mutation_p.K82T|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000409916.1_Missense_Mutation_p.K15T|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.K150T	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	114					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										GCAGCTCATAAAACTCCAAAA	0.303																																						ENST00000323303.4																			0											c.(340-342)aAa>aCa		MOB family member 4, phocein							31	32	32					2																	198405148		2201	4290	6491	SO:0001583	missense	25843							g.chr2:198405148A>C	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.341A>C	2.37:g.198405148A>C	ENSP00000315702:p.Lys114Thr					MOB4_ENST00000604458.1_Missense_Mutation_p.K150T|MOB4_ENST00000233892.4_Missense_Mutation_p.K82T|MOB4_ENST00000409360.1_Missense_Mutation_p.K82T|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.K93T|MOB4_ENST00000409916.1_Missense_Mutation_p.K15T	p.K114T	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2					5	596	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.341A>C	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303749	0.81136	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.86432	0.1761	9	0.87932	D	0	.	15.8317	0.78757	1.0:0.0:0.0:0.0	.	93;114	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	T	82;15;114;93;82	.	ENSP00000233892:K82T	K	+	2	0	PHOCN	198113393	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.248000	0.95456	2.136000	0.66102	0.533000	0.62120	AAA		0.303	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		63	260	0	0	0	1	0	63	260					C	198405148	A	C	198405148	3	2	79	1	0	0	0	0	1	0	0	0	9728	14	1	4	359	4	MOBKL3	2	198405148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41579	198405148	44794225	3303	13620											
RFTN2	130132	broad.mit.edu	37	chr2	198460765	198460765	+	Missense_Mutation	SNP	C	C	T													aactggcctctgaaggaataCgatctgctttgtagccaaat					rs199832032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	ENST00000295049.4	-	8	1719	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	395					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAAGGAATACGATCTGCTTT	0.323																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1183-1185)Gta>Ata		raftlin family member 2							98	89	92					2																	198460765		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198460765C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1183G>A	2.37:g.198460765C>T	ENSP00000295049:p.Val395Ile						p.V395I	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			8	1719	-			395					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1183G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.369996	0.11352	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.45668	0.89;0.89	5.34	2.6	0.31112	.	0.348813	0.29544	N	0.011841	T	0.39358	0.1075	M	0.73962	2.25	0.18873	N	0.999984	B	0.29378	0.243	B	0.20184	0.028	T	0.37753	-0.9692	10	0.66056	D	0.02	-12.8816	9.085	0.36577	0.0:0.7705:0.0:0.2295	.	395	Q52LD8	RFTN2_HUMAN	I	395;77	ENSP00000295049:V395I;ENSP00000387459:V77I	ENSP00000295049:V395I	V	-	1	0	RFTN2	198169010	0.818000	0.29161	0.008000	0.14137	0.004000	0.04260	1.140000	0.31516	0.498000	0.27948	-0.133000	0.14855	GTA		0.323	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		17	266	0	0	0	1	0	17	266					T	198460765	C	T	198460765	3	4	79	1	0	0	0	0	1	0	0	0	13309	536	19	1	330	1	RFTN2	2	198460765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55617	198460765	44738608	3304	13621	85	2									
RFTN2	130132	broad.mit.edu	37	chr2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C													ctgaaggaatacgatctgctTtgtagccaaattcccttcac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	392					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1174-1176)Aag>Gag		raftlin family member 2							93	85	88					2																	198460774		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198460774T>C	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1174A>G	2.37:g.198460774T>C	ENSP00000295049:p.Lys392Glu						p.K392E	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			8	1710	-			392					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1174A>G	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085166	0.36758	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.43688	0.94;0.94	5.34	4.16	0.48862	.	0.277824	0.40222	N	0.001152	T	0.61375	0.2342	M	0.74647	2.275	0.44995	D	0.99801	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-24.6818	9.6555	0.39923	0.1552:0.0:0.0:0.8448	.	392	Q52LD8	RFTN2_HUMAN	E	392;74	ENSP00000295049:K392E;ENSP00000387459:K74E	ENSP00000295049:K392E	K	-	1	0	RFTN2	198169019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.844000	0.62846	1.126000	0.42016	-0.344000	0.07964	AAG		0.328	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		38	217	0	0	0	1	0	38	217					C	198460774	T	C	198460774	3	2	79	1	0	0	0	0	1	0	0	0	13309	1850	64	4	339	4	RFTN2	2	198460774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	198460774	44738599	3305	13622	85	2									
RFTN2	130132	broad.mit.edu	37	chr2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataacaggatgaatagcccCgacaatatatcctttaagat	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	77					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(229-231)Ggg>Agg		raftlin family member 2							116	117	116					2																	198511301		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198511301C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.229G>A	2.37:g.198511301C>T	ENSP00000295049:p.Gly77Arg						p.G77R	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			2	765	-			77					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.229G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442193	0.83993	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32023	1.47;1.47	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47358	0.1441	L	0.51422	1.61	0.39911	D	0.974022	D	0.89917	1.0	D	0.72338	0.977	T	0.47315	-0.9127	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	R	77	ENSP00000295049:G77R;ENSP00000398128:G77R	ENSP00000295049:G77R	G	-	1	0	RFTN2	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG		0.378	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		14	427	0	0	0	1	0	14	427					T	198511301	C	T	198511301	3	4	79	1	0	0	0	0	1	0	0	0	13309	652	23	1	1308	1	RFTN2	2	198511301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50527	198511301	44688072	3306	13623											
RFTN2	130132	broad.mit.edu	37	chr2	198540075	198540075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccagcaatacatattcGtaagcaaattctgtctttgt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	36					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(106-108)taC>taT		raftlin family member 2							139	145	143					2																	198540075		2203	4300	6503	SO:0001819	synonymous_variant	130132					plasma membrane		g.chr2:198540075G>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.108C>T	2.37:g.198540075G>A							p.Y36Y	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			1	644	-			36					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	c.108C>T	CCDS2323.1																																																																																				0.368	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		60	680	0	0	0	1	0	60	680					A	198540075	G	A	198540075	2	1	79	1	0	0	0	0	0	0	0	1	13309	1140	40	1		1	RFTN2	2	198540075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28774	198540075	44659298	3307	13624											
MARS2	92935	broad.mit.edu	37	chr2	198570573	198570573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaccgggtggctgtgcaGcacttctggggggtgcttaa	17	10	1	0	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	148					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(442-444)caG>caA		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						39	44	42					2																	198570573		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570573G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.444G>A	2.37:g.198570573G>A						AC011997.1_ENST00000409845.1_Intron	p.Q148Q	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	487	+			148					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.444G>A	CCDS33358.1																																																																																				0.607	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		141	354	0	0	0	1	0	141	354					A	198570573	G	A	198570573	2	1	79	1	0	0	0	0	0	0	0	1	9358	962	34	2		2	MARS2	2	198570573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30498	198570573	44628800	3308	13625											
PLCL1	5334	broad.mit.edu	37	chr2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaacccatgtttcctttcGaagtgtcatagaggtaataa	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403																																						ENST00000428675.1																			1	Substitution - Missense(1)	p.R371Q(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1405-1407)cGa>cAa		phospholipase C-like 1	Quinacrine(DB01103)						54	53	53					2																	198949647		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949647G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1406G>A	2.37:g.198949647G>A	ENSP00000402861:p.Arg469Gln					PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	p.R469Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1804	+			469			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1406G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.650704	0.14405	N	0.321604	T	0.46073	0.1374	L	0.48642	1.525	0.42717	D	0.993666	B;B	0.32604	0.377;0.254	B;B	0.28232	0.087;0.055	T	0.23619	-1.0183	9	.	.	.	.	2.9874	0.05972	0.2537:0.1133:0.5166:0.1164	.	469;395	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	469;371	ENSP00000402861:R469Q;ENSP00000414138:R371Q	.	R	+	2	0	PLCL1	198657892	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.506000	0.45433	0.083000	0.17047	0.561000	0.74099	CGA		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		51	165	0	0	0	1	0	51	165					A	198949647	G	A	198949647	3	1	79	1	0	0	0	0	1	0	0	0	12081	1058	37	1	1412	1	PLCL1	2	198949647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379074	198949647	44249726	3309	13626											
PLCL1	5334	broad.mit.edu	37	chr2	198950755	198950755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgacatcatggagcaCgtaaccctttttgtccacat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458																																						ENST00000428675.1																			3	Substitution - coding silent(3)	p.H740H(2)|p.H838H(1)	endometrium(2)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2512-2514)caC>caT		phospholipase C-like 1	Quinacrine(DB01103)						175	147	156					2																	198950755		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950755C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2514C>T	2.37:g.198950755C>T						PLCL1_ENST00000437704.2_Silent_p.H740H	p.H838H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2912	+			838					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2514C>T	CCDS2326.2																																																																																				0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		99	260	0	0	0	1	0	99	260					T	198950755	C	T	198950755	2	4	79	1	0	0	0	0	0	0	0	1	12081	535	19	1		1	PLCL1	2	198950755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1108	198950755	44248618	3310	13627											
PLCL1	5334	broad.mit.edu	37	chr2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacatctttaaaatagCggttcatccattacgagaag	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2668-2670)gCg>gTg		phospholipase C-like 1	Quinacrine(DB01103)						60	54	56					2																	198950910		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950910C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2669C>T	2.37:g.198950910C>T	ENSP00000402861:p.Ala890Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	p.A890V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	3067	+			890					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2669C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234223	0.79688	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22539	1.95;2.01	5.41	5.41	0.78517	.	0.089994	0.48767	D	0.000176	T	0.45558	0.1348	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55055	0.767;0.593	T	0.44498	-0.9324	9	.	.	.	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	890;816	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	890;792	ENSP00000402861:A890V;ENSP00000414138:A792V	.	A	+	2	0	PLCL1	198659155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.641000	0.83368	2.814000	0.96858	0.591000	0.81541	GCG		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		47	199	0	0	0	1	0	47	199					T	198950910	C	T	198950910	3	4	79	1	0	0	0	0	1	0	0	0	12081	768	27	1	2675	1	PLCL1	2	198950910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	198950910	44248463	3311	13628											
PLCL1	5334	broad.mit.edu	37	chr2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaactcaacaaagcaactGagagctttgcttggaacatt	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1025					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3073-3075)Gag>Aag		phospholipase C-like 1	Quinacrine(DB01103)						81	82	82					2																	198968628		2202	4300	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198968628G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3073G>A	2.37:g.198968628G>A	ENSP00000402861:p.Glu1025Lys					PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	p.E1025K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			5	3471	+			1025					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.3073G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031692	0.93575	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.25912	1.77;1.87	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.53158	0.1779	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	T	0.52902	-0.8513	9	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	1025;951	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	1025;927	ENSP00000402861:E1025K;ENSP00000414138:E927K	.	E	+	1	0	PLCL1	198676873	1.000000	0.71417	0.967000	0.41034	0.949000	0.60115	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	GAG		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		58	197	0	0	0	1	0	58	197					A	198968628	G	A	198968628	3	1	79	1	0	0	0	0	1	0	0	0	12081	1291	45	2	3091	2	PLCL1	2	198968628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17718	198968628	44230745	3312	13629											
PLCL1	5334	broad.mit.edu	37	chr2	199011668	199011668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaaggaaagtagtgaGgagaatgggaagctgtgact	18	2	0	4	rs369185082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1090					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3268-3270)gaG>gaA		phospholipase C-like 1	Quinacrine(DB01103)						90	68	75					2																	199011668		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:199011668G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3270G>A	2.37:g.199011668G>A						PLCL1_ENST00000437704.2_Silent_p.E992E	p.E1090E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			6	3668	+			1090					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.3270G>A	CCDS2326.2																																																																																				0.483	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		30	148	0	0	0	1	0	30	148					A	199011668	G	A	199011668	2	1	79	1	0	0	0	0	0	0	0	1	12081	991	35	2		2	PLCL1	2	199011668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43040	199011668	44187705	3313	13630											
SATB2	23314	broad.mit.edu	37	chr2	200137033	200137033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagccttcctcgctgtcGttctcctctgactcggtcag	10	15	3	1	rs529621505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000417098.1	-	11	2919	c.2103C>T	c.(2101-2103)aaC>aaT	p.N701N	SATB2_ENST00000443023.1_Silent_p.N642N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000260926.5_Silent_p.N701N	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	701					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCGCTGTCGTTCTCCTCTG	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.0				Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1924-1926)aaC>aaT		SATB homeobox 2							128	117	121					2																	200137033		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137033G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2103C>T	2.37:g.200137033G>A						SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000417098.1_Silent_p.N701N	p.N642N			Q9UPW6	SATB2_HUMAN			10	3391	-			701					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1926C>T	CCDS2327.1																																																																																				0.552	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		115	494	0	0	0	1	0	115	494					A	200137033	G	A	200137033	2	1	79	1	0	0	0	0	0	0	0	1	13904	1136	40	1		1	SATB2	2	200137033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1125365	200137033	43062340	3314	13631											
SATB2	23314	broad.mit.edu	37	chr2	200137137	200137137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttcacgtggtaccGctggttctggaagaacttga	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137137G>A	ENST00000417098.1	-	11	2815	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	SATB2_ENST00000443023.1_Missense_Mutation_p.R608W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGTGGTACCGCTGGTTCTGG	0.562																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1822-1824)Cgg>Tgg		SATB homeobox 2							160	142	148					2																	200137137		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137137G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1999C>T	2.37:g.200137137G>A	ENSP00000401112:p.Arg667Trp					SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000417098.1_Missense_Mutation_p.R667W	p.R608W			Q9UPW6	SATB2_HUMAN			10	3287	-			667					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1822C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827751	0.71143	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51	5.5	2.55	0.30701	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.98188	1.0461	10	0.87932	D	0	-17.9892	14.6014	0.68443	0.0:0.0:0.6084:0.3916	.	549;667	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	W	667;608;667;549;667	ENSP00000401112:R667W;ENSP00000388764:R608W;ENSP00000260926:R667W;ENSP00000388581:R549W;ENSP00000405420:R667W	ENSP00000260926:R667W	R	-	1	2	SATB2	199845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.612000	0.61169	0.294000	0.22547	0.650000	0.86243	CGG		0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		16	645	0	0	0	1	0	16	645					A	200137137	G	A	200137137	3	1	79	1	0	0	0	0	1	0	0	0	13904	1086	38	1	206	1	SATB2	2	200137137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	200137137	43062236	3315	13632											
SATB2	23314	broad.mit.edu	37	chr2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggggagatccagctgaGccgaaagagtgtggatggct	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000417098.1	-	11	2765	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	SATB2_ENST00000443023.1_Missense_Mutation_p.A591V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	650					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCCAGCTGAGCCGAAAGAGT	0.542																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1771-1773)gCt>gTt		SATB homeobox 2							137	122	127					2																	200137187		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137187G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1949C>T	2.37:g.200137187G>A	ENSP00000401112:p.Ala650Val					SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000417098.1_Missense_Mutation_p.A650V	p.A591V			Q9UPW6	SATB2_HUMAN			10	3237	-			650					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1772C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698599	0.88830	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.983;0.992	D	0.97639	1.0147	10	0.72032	D	0.01	-14.0989	19.762	0.96323	0.0:0.0:1.0:0.0	.	532;650	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	650;591;650;532;650	ENSP00000401112:A650V;ENSP00000388764:A591V;ENSP00000260926:A650V;ENSP00000388581:A532V;ENSP00000405420:A650V	ENSP00000260926:A650V	A	-	2	0	SATB2	199845432	1.000000	0.71417	0.341000	0.25589	0.936000	0.57629	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCT		0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		88	469	0	0	0	1	0	88	469					A	200137187	G	A	200137187	3	1	79	1	0	0	0	0	1	0	0	0	13904	971	34	2	256	2	SATB2	2	200137187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	200137187	43062186	3316	13633											
SATB2	23314	broad.mit.edu	37	chr2	200173513	200173513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggggaagctggaccacGtgttgcatgcgttcgctgtg	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000417098.1	-	10	2526	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	SATB2_ENST00000443023.1_Silent_p.H511H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000260926.5_Silent_p.H570H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	570					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.H570H(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGGACCACGTGTTGCATGC	0.607																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			2	Substitution - coding silent(2)	p.H570H(2)	large_intestine(1)|endometrium(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1531-1533)caC>caT		SATB homeobox 2							162	133	143					2																	200173513		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173513G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1710C>T	2.37:g.200173513G>A						SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000417098.1_Silent_p.H570H	p.H511H			Q9UPW6	SATB2_HUMAN			9	2998	-			570					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1533C>T	CCDS2327.1																																																																																				0.607	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		110	522	0	0	0	1	0	110	522					A	200173513	G	A	200173513	2	1	79	1	0	0	0	0	0	0	0	1	13904	1136	40	1		1	SATB2	2	200173513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36326	200173513	43025860	3317	13634											
C2orf69	205327	broad.mit.edu	37	chr2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtccttctcatactaCgaatggttgccagggagaaa	9	10	1	1	rs547152139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	227						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCTCATACTACGAATGGTTGC	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.0					ENST00000319974.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						c.(679-681)aCg>aTg		chromosome 2 open reading frame 69							57	57	57					2																	200790131		1840	4101	5941	SO:0001583	missense	205327					extracellular region		g.chr2:200790131C>T		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"hypothetical protein FLJ38973"					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.680C>T	2.37:g.200790131C>T	ENSP00000312770:p.Thr227Met					C2orf69_ENST00000491721.1_Intron	p.T227M	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN			2	863	+			227					Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	c.680C>T	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117427	0.56505	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.32	4.45	0.53987	.	0.377447	0.20781	N	0.085794	T	0.65811	0.2727	L	0.39898	1.24	0.37250	D	0.906511	D	0.76494	0.999	D	0.63033	0.91	T	0.72890	-0.4155	9	0.72032	D	0.01	-9.0066	14.2091	0.65753	0.0:0.816:0.184:0.0	.	227	Q8N8R5	CB069_HUMAN	M	227	.	ENSP00000312770:T227M	T	+	2	0	C2orf69	200498376	0.816000	0.29132	0.993000	0.49108	0.959000	0.62525	2.848000	0.48278	1.467000	0.48044	0.655000	0.94253	ACG		0.368	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		25	279	0	0	0	1	0	25	279					T	200790131	C	T	200790131	3	4	79	1	0	0	0	0	1	0	0	0	2195	536	19	1	686	1	C2orf69	2	200790131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616618	200790131	42409242	3318	13635											
C2orf60	129450	broad.mit.edu	37	chr2	200820134	200820134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgggtagaggtgctgCatgaactgctcccgagaaac	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200820134C>T	ENST00000354611.4	-	1	325	c.60G>A	c.(58-60)atG>atA	p.M20I	C2orf47_ENST00000392290.1_5'Flank|TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000295079.2_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	20					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|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)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AGAGGTGCTGCATGAACTGCT	0.622																																						ENST00000354611.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						c.(58-60)atG>atA		tRNA-yW synthesizing protein 5							29	33	32					2																	200820134		1942	4144	6086	SO:0001583	missense	129450				wybutosine biosynthetic process		iron ion binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding	g.chr2:200820134C>T	AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 60"	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.60G>A	2.37:g.200820134C>T	ENSP00000346627:p.Met20Ile					TYW5_ENST00000452512.2_5'UTR|C2orf47_ENST00000295079.2_Intron|C2orf69_ENST00000491721.1_3'UTR	p.M20I	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN			1	325	-			20					B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	c.60G>A	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146499	0.21288	.	.	ENSG00000162971	ENST00000354611	T	0.22134	1.97	5.65	1.73	0.24493	.	0.243441	0.27531	N	0.018948	T	0.04998	0.0134	N	0.00729	-1.24	0.50313	D	0.999866	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.28618	-1.0038	10	0.19590	T;T	0.45;0.45	0.0457	5.8009	0.18414	0.0:0.5295:0.2576:0.2129	.	20;20	A8KAJ9;A2RUC4	.;TYW5_HUMAN	I	20	ENSP00000346627:M20I	ENSP00000346627:M20I;ENSP00000346627:M20I	M	-	3	0	TYW5	200528379	0.000000	0.05858	0.017000	0.16124	0.076000	0.17211	-0.496000	0.06436	0.146000	0.19002	0.655000	0.94253	ATG		0.622	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3	NM_001039693		8	111	0	0	0	1	0	8	111					T	200820134	C	T	200820134	3	4	79	1	0	0	0	0	1	0	0	0	2186	710	25	2	919	2	C2orf60	2	200820134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30003	200820134	42379239	3319	13636											
C2orf47	79568	broad.mit.edu	37	chr2	200824039	200824039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgtaaatttgatctgTtggaagaacttgtggccaaa	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000392290.1	+	2	695	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	167						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						ATTTGATCTGTTGGAAGAACT	0.308																																						ENST00000295079.2																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(499-501)Ttg>Ctg		chromosome 2 open reading frame 47							155	157	156					2																	200824039		2203	4300	6503	SO:0001819	synonymous_variant	79568					mitochondrion		g.chr2:200824039T>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.499T>C	2.37:g.200824039T>C						C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Silent_p.L167L	p.L167L	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			3	821	+			167					Q658V9|Q9H671	Silent	SNP	ENST00000392290.1	37	c.499T>C	CCDS2329.1																																																																																				0.308	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		14	492	0	0	0	1	0	14	492					C	200824039	T	C	200824039	2	2	79	1	0	0	0	0	0	0	0	1	2176	1722	60	4		4	C2orf47	2	200824039	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3905	200824039	42375334	3320	13637											
KCTD18	130535	broad.mit.edu	37	chr2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgagctgcctttctgCggctaccactttgaaaccgg	11	13	1	2	rs201870494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	319					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(955-957)cGc>cAc		potassium channel tetramerization domain containing 18							36	40	38					2																	201355148		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201355148C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.956G>A	2.37:g.201355148C>T	ENSP00000352941:p.Arg319His					KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1466	-			319					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.956G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932449	0.18131	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.34275	1.37;1.37	3.3	-0.435	0.12279	.	3.470240	0.00839	N	0.001735	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.25751	T	0.34	-0.0013	2.148	0.03792	0.2456:0.3222:0.0:0.4322	.	319	Q6PI47	KCD18_HUMAN	H	319	ENSP00000352941:R319H;ENSP00000386751:R319H	ENSP00000352941:R319H	R	-	2	0	KCTD18	201063393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.366000	0.07563	-0.199000	0.10317	0.655000	0.94253	CGC		0.632	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		100	273	0	0	0	1	0	100	273					T	201355148	C	T	201355148	3	4	79	1	0	0	0	0	1	0	0	0	8135	768	27	1	328	1	KCTD18	2	201355148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531109	201355148	41844225	3321	13638											
KCTD18	130535	broad.mit.edu	37	chr2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaaaaatctaactggcTtaggaccagtcttatagttc	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	274					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(820-822)aAg>aCg		potassium channel tetramerization domain containing 18							65	70	68					2																	201355283		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201355283T>G	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.821A>C	2.37:g.201355283T>G	ENSP00000352941:p.Lys274Thr					KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1331	-			274					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.821A>C	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198727	0.58126	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.54479	0.57;0.57	5.09	3.91	0.45181	.	0.086833	0.49916	N	0.000137	T	0.39489	0.1080	L	0.32530	0.975	0.35781	D	0.821628	P	0.43169	0.8	B	0.36534	0.227	T	0.54410	-0.8298	10	0.87932	D	0	-20.859	11.6997	0.51564	0.0:0.0:0.1484:0.8516	.	274	Q6PI47	KCD18_HUMAN	T	274	ENSP00000352941:K274T;ENSP00000386751:K274T	ENSP00000352941:K274T	K	-	2	0	KCTD18	201063528	1.000000	0.71417	0.976000	0.42696	0.924000	0.55760	3.977000	0.56874	0.925000	0.37094	0.533000	0.62120	AAG		0.463	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		93	253	0	0	0	1	0	93	253					G	201355283	T	G	201355283	3	3	79	1	0	0	0	0	1	0	0	0	8135	1609	56	4	463	4	KCTD18	2	201355283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	201355283	41844090	3322	13639											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	713						11	713	---	---	---	---	T	201437004	-	T	201437003	7	5	79	1	0	1	1	0	0	0	0	0	14267	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	81720	201437003	41762370	3323	13640											
AOX1	316	broad.mit.edu	37	chr2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggtgtttggcagtgagaGaatgatgtggttttcccccg	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(718-720)aGa>aTa		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						156	137	144					2																	201469468		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201469468G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.719G>T	2.37:g.201469468G>T	ENSP00000363832:p.Arg240Ile						p.R240I	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			9	960	+			240			FAD-binding PCMH-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.719G>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594960	0.86953	.	.	ENSG00000138356	ENST00000374700	T	0.23950	1.88	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.047834	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.67304	-0.5704	10	0.87932	D	0	-52.8732	19.0885	0.93215	0.0:0.0:1.0:0.0	.	240	Q06278	ADO_HUMAN	I	240	ENSP00000363832:R240I	ENSP00000363832:R240I	R	+	2	0	AOX1	201177713	1.000000	0.71417	0.109000	0.21407	0.003000	0.03518	5.971000	0.70440	2.758000	0.94735	0.561000	0.74099	AGA		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		85	514	1	0	3.59392e-34	1	4.27159e-34	85	514					T	201469468	G	T	201469468	3	4	79	1	0	0	0	0	1	0	0	0	729	942	33	3	753	3	AOX1	2	201469468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32465	201469468	41729905	3324	13641											
AOX1	316	broad.mit.edu	37	chr2	201477379	201477379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgacaggagaatgcGctagcgatagtcaattcagg	13	10	2	1	rs146899961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201477379G>A	ENST00000374700.2	+	14	1552	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	437					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGAGAATGCGCTAGCGATAG	0.468																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1309-1311)gcG>gcA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						146	137	140					2																	201477379		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201477379G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1311G>A	2.37:g.201477379G>A						AOX1_ENST00000485106.1_3'UTR	p.A437A	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			14	1552	+			437					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1311G>A	CCDS33360.1																																																																																				0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		18	562	0	0	0	1	0	18	562					A	201477379	G	A	201477379	2	1	79	1	0	0	0	0	0	0	0	1	729	1074	38	1		1	AOX1	2	201477379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7911	201477379	41721994	3325	13642											
CLK1	1195	broad.mit.edu	37	chr2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagtcgtaagtactaAgtcccaatagttcaaaaaca	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000321356.4	-	7	872	c.737T>G	c.(736-738)cTt>cGt	p.L246R	CLK1_ENST00000434813.2_Missense_Mutation_p.L288R|CLK1_ENST00000409769.2_Missense_Mutation_p.L69R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAAGTACTAAGTCCCAATAG	0.363																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(862-864)cTt>cGt		CDC-like kinase 1							104	98	100					2																	201722536		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722536A>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.737T>G	2.37:g.201722536A>C	ENSP00000326830:p.Leu246Arg					CLK1_ENST00000321356.4_Missense_Mutation_p.L246R|CLK1_ENST00000409769.2_Missense_Mutation_p.L69R	p.L288R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			7	1197	-			246			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.863T>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411233	0.62399	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	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	0.28995	0.0720	N	0.16098	0.37	0.80722	D	1	P;P;P;D	0.89917	0.524;0.929;0.524;1.0	B;B;P;D	0.97110	0.406;0.406;0.51;1.0	T	0.11616	-1.0580	10	0.33141	T	0.24	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	288;216;246;69	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	246;216;69;288	ENSP00000326830:L246R;ENSP00000386358:L69R;ENSP00000394734:L288R	ENSP00000326830:L246R	L	-	2	0	CLK1	201430781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.460000	0.39030	CTT		0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			51	292	0	0	0	1	0	51	292					C	201722536	A	C	201722536	3	2	79	1	0	0	0	0	1	0	0	0	3545	72	3	4	745	4	CLK1	2	201722536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245157	201722536	41476837	3326	13643											
CLK1	1195	broad.mit.edu	37	chr2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaagtactgttggggTctgttgtattcagatgttcc	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000321356.4	-	6	785	c.650A>G	c.(649-651)gAc>gGc	p.D217G	CLK1_ENST00000434813.2_Missense_Mutation_p.D259G|CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGTTGGGGTCTGTTGTATT	0.358																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(775-777)gAc>gGc		CDC-like kinase 1							154	152	153					2																	201722711		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722711T>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.650A>G	2.37:g.201722711T>C	ENSP00000326830:p.Asp217Gly					CLK1_ENST00000321356.4_Missense_Mutation_p.D217G|CLK1_ENST00000409769.2_Missense_Mutation_p.D40G	p.D259G	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1110	-			217			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.776A>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978869	0.74360	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.64085	-0.08;-0.08;-0.08	5.41	5.41	0.78517	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	0.73953	0.3653	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	15.4044	0.74866	0.0:0.0:0.0:1.0	.	259;187;217;40	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	G	217;187;40;259	ENSP00000326830:D217G;ENSP00000386358:D40G;ENSP00000394734:D259G	ENSP00000326830:D217G	D	-	2	0	CLK1	201430956	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.997000	0.88414	2.178000	0.69098	0.460000	0.39030	GAC		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			72	452	0	0	0	1	0	72	452					C	201722711	T	C	201722711	3	2	79	1	0	0	0	0	1	0	0	0	3545	1667	58	4	836	4	CLK1	2	201722711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175	201722711	41476662	3327	13644											
CLK1	1195	broad.mit.edu	37	chr2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttaactatttttactgCtacatgtctacctcccctgt	3	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000321356.4	-	6	700	c.565G>T	c.(565-567)Gca>Tca	p.A189S	CLK1_ENST00000434813.2_Missense_Mutation_p.A231S|CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTTTACTGCTACATGTCTA	0.378																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(691-693)Gca>Tca		CDC-like kinase 1							155	146	149					2																	201722796		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722796C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.565G>T	2.37:g.201722796C>A	ENSP00000326830:p.Ala189Ser					CLK1_ENST00000321356.4_Missense_Mutation_p.A189S|CLK1_ENST00000409769.2_Missense_Mutation_p.A12S	p.A231S	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1025	-			189			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.691G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780641	0.90195	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.56275	0.47;0.47;0.47	5.6	4.69	0.59074	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	0.79811	0.4510	H	0.95004	3.61	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;0.999	D	0.85491	0.1185	10	0.87932	D	0	.	15.5631	0.76266	0.1385:0.8615:0.0:0.0	.	231;159;189;12	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	189;159;12;231	ENSP00000326830:A189S;ENSP00000386358:A12S;ENSP00000394734:A231S	ENSP00000326830:A189S	A	-	1	0	CLK1	201431041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.626000	0.88956	0.563000	0.77884	GCA		0.378	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			71	412	1	0	1.05635e-38	1	1.2743e-38	71	412					A	201722796	C	A	201722796	3	1	79	1	0	0	0	0	1	0	0	0	3545	797	28	3	921	3	CLK1	2	201722796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	201722796	41476577	3328	13645											
ORC2L	4999	broad.mit.edu	37	chr2	201822814	201822814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaaagtgaacctccagCatcttgtcttcctttaattc	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201822814C>T	ENST00000234296.2	-	3	282	c.33G>A	c.(31-33)atG>atA	p.M11I	ORC2_ENST00000467605.1_Intron	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	11					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)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAACCTCCAGCATCTTGTCTT	0.338																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(31-33)atG>atA		origin recognition complex, subunit 2							180	155	163					2																	201822814		2203	4299	6502	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.chr2:201822814C>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.33G>A	2.37:g.201822814C>T	ENSP00000234296:p.Met11Ile					ORC2_ENST00000467605.1_Intron	p.M11I	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			3	282	-			11					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.33G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618154	0.46736	.	.	ENSG00000115942	ENST00000234296;ENST00000410039;ENST00000457595	T;T	0.40476	1.63;1.03	6.01	5.13	0.70059	.	0.448742	0.27008	N	0.021384	T	0.27629	0.0679	N	0.19112	0.55	0.22521	N	0.999026	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12656	-1.0539	10	0.16420	T	0.52	-2.8989	13.347	0.60580	0.0:0.8421:0.1579:0.0	.	11;11	B4DYU9;Q13416	.;ORC2_HUMAN	I	11	ENSP00000234296:M11I;ENSP00000386390:M11I	ENSP00000234296:M11I	M	-	3	0	ORC2	201531059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.295000	0.33377	1.533000	0.49186	0.655000	0.94253	ATG		0.338	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		130	377	0	0	0	1	0	130	377					T	201822814	C	T	201822814	3	4	79	1	0	0	0	0	1	0	0	0	11304	710	25	2	1764	2	ORC2L	2	201822814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100018	201822814	41376559	3329	13646											
FAM126B	285172	broad.mit.edu	37	chr2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatttgaatcttgaataActttatagagggctggtaca	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	44						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(130-132)gTt>gGt		family with sequence similarity 126, member B							92	93	93					2																	201887576		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201887576A>C	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.131T>G	2.37:g.201887576A>C	ENSP00000393667:p.Val44Gly					FAM126B_ENST00000485144.1_5'UTR	p.V44G	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			4	318	-			44					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.131T>G	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627956	0.66901	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;D	0.85955	-1.25;-1.25;-1.25;-2.05	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93478	0.6825	10	0.87932	D	0	-12.7992	15.9596	0.79918	1.0:0.0:0.0:0.0	.	44	Q8IXS8	F126B_HUMAN	G	44	ENSP00000393667:V44G;ENSP00000401905:V44G;ENSP00000408374:V44G;ENSP00000412139:V44G	ENSP00000286181:V44G	V	-	2	0	FAM126B	201595821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.860000	0.92272	2.220000	0.72140	0.533000	0.62120	GTT		0.328	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		61	331	0	0	0	1	0	61	331					C	201887576	A	C	201887576	3	2	79	1	0	0	0	0	1	0	0	0	5451	43	2	4	1497	4	FAM126B	2	201887576	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64762	201887576	41311797	3330	13647											
CFLAR	8837	broad.mit.edu	37	chr2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgctgaagtcatccAtcaggttgaagaagcacttg	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000309955.3	+	2	535	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	7	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(19-21)cAt>cGt		CASP8 and FADD-like apoptosis regulator							171	167	169					2																	201994608		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994608A>G	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.20A>G	2.37:g.201994608A>G	ENSP00000312455:p.His7Arg					CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R	p.H7R			O15519	CFLAR_HUMAN			2	232	+			7			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.20A>G	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358134	0.41801	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.72;0.82;0.82;3.59;4.0;0.86;3.72;0.82;3.59	5.9	3.44	0.39384	DEATH-like (2);Death effector (3);	0.383959	0.31221	N	0.008038	T	0.60534	0.2276	M	0.66939	2.045	0.38335	D	0.943914	P;D;D;D;P;D;P	0.76494	0.899;0.999;0.999;0.999;0.876;0.967;0.899	P;D;D;D;P;P;P	0.70716	0.834;0.95;0.95;0.97;0.794;0.744;0.901	T	0.59016	-0.7533	10	0.22109	T	0.4	-10.5801	10.0593	0.42263	0.7312:0.0:0.0:0.2688	.	7;7;7;7;7;7;7	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	R	7	ENSP00000312455:H7R;ENSP00000339335:H7R;ENSP00000347757:H7R;ENSP00000339326:H7R;ENSP00000345807:H7R;ENSP00000342809:H7R;ENSP00000399420:H7R;ENSP00000406775:H7R;ENSP00000411535:H7R	ENSP00000312455:H7R	H	+	2	0	CFLAR	201702853	1.000000	0.71417	0.990000	0.47175	0.091000	0.18340	3.037000	0.49775	0.434000	0.26340	0.460000	0.39030	CAT		0.493	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		187	611	0	0	0	1	0	187	611					G	201994608	A	G	201994608	3	3	79	1	0	0	0	0	1	0	0	0	3301	217	8	4	22	4	CFLAR	2	201994608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107032	201994608	41204765	3331	13648											
CFLAR	8837	broad.mit.edu	37	chr2	201994684	201994684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgttgctatagatgtGgttccacctaatgtcaggga	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000309955.3	+	2	611	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	32	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(94-96)gtG>gtA		CASP8 and FADD-like apoptosis regulator							206	197	200					2																	201994684		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994684G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.96G>A	2.37:g.201994684G>A						CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V	p.V32V			O15519	CFLAR_HUMAN			2	308	+			32			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.96G>A	CCDS2337.1																																																																																				0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		216	673	0	0	0	1	0	216	673					A	201994684	G	A	201994684	2	1	79	1	0	0	0	0	0	0	0	1	3301	1335	47	2		2	CFLAR	2	201994684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	201994684	41204689	3332	13649											
CFLAR	8837	broad.mit.edu	37	chr2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaagagtctcaaggatcCttcaaataacttcagggtga	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.3	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	197	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(589-591)cCt>cAt		CASP8 and FADD-like apoptosis regulator							112	112	112					2																	202005146		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202005146C>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.590C>A	2.37:g.202005146C>A	ENSP00000312455:p.Pro197His					CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H	p.P197H	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			5	1105	+			197			Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.590C>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086986	0.07097	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T;T	0.48522	3.71;3.71;0.81;0.81;3.58;3.93;0.87;3.71;0.81;3.58	4.69	1.81	0.25067	.	0.885835	0.10210	N	0.702195	T	0.36690	0.0976	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B	0.30973	0.095;0.021;0.241;0.127;0.155;0.302;0.127	B;B;B;B;B;B;B	0.32624	0.032;0.016;0.103;0.075;0.048;0.149;0.075	T	0.30357	-0.9981	10	0.38643	T	0.18	0.0436	4.1779	0.10360	0.1818:0.6268:0.0:0.1914	.	101;197;197;197;197;197;197	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	197;101;197;197;197;101;197;197;197;197;197	ENSP00000312455:P197H;ENSP00000413270:P101H;ENSP00000339335:P197H;ENSP00000347757:P197H;ENSP00000339326:P197H;ENSP00000345807:P197H;ENSP00000342809:P197H;ENSP00000399420:P197H;ENSP00000406775:P197H;ENSP00000411535:P197H	ENSP00000312455:P197H	P	+	2	0	CFLAR	201713391	0.010000	0.17322	0.015000	0.15790	0.043000	0.13939	0.479000	0.22228	0.405000	0.25532	0.650000	0.86243	CCT		0.398	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		115	334	1	0	3.3835e-51	1	4.19742e-51	115	334					A	202005146	C	A	202005146	3	1	79	1	0	0	0	0	1	0	0	0	3301	681	24	3	604	3	CFLAR	2	202005146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10462	202005146	41194227	3333	13650											
CFLAR	8837	broad.mit.edu	37	chr2	202025276	202025276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccgagcaccgagactaCgacagctttgtgtgtgtcct	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000479953.2_Silent_p.Y209Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	305	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(913-915)taC>taT		CASP8 and FADD-like apoptosis regulator							197	176	183					2																	202025276		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025276C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.915C>T	2.37:g.202025276C>T						CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y	p.Y305Y	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1430	+			305			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.915C>T	CCDS2337.1																																																																																				0.532	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		74	785	0	0	0	1	0	74	785					T	202025276	C	T	202025276	2	4	79	1	0	0	0	0	0	0	0	1	3301	547	19	1		1	CFLAR	2	202025276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20130	202025276	41174097	3334	13651											
CASP10	843	broad.mit.edu	37	chr2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtaaagtgagctttcGtgagaagcttctgattattg	10	5	1	3	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000272879.5	+	2	246	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000286186.6_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	21	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.		R -> C (found in a multiple myeloma sample; somatic mutation). {ECO:0000269|PubMed:19900088}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGAGCTTTCGTGAGAAGCTT	0.463																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(61-63)cGt>cAt		caspase 10, apoptosis-related cysteine peptidase		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	77	75		62,62,62,62,62,62	3.3	0	2	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	29,29,29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/456,21/479,21/480,21/522,21/274,21/523	202050562	4,13002	2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202050562G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.62G>A	2.37:g.202050562G>A	ENSP00000272879:p.Arg21His					CASP10_ENST00000272879.5_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H	p.R21H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			2	497	+			21		R -> C (found in a multiple myeloma sample; somatic mutation).	DED 1.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.62G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591814	0.46214	0.0	4.65E-4	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.13	3.29	0.37713	DEATH-like (2);Death effector (3);	0.912306	0.09231	N	0.830544	D	0.88994	0.6589	M	0.62266	1.93	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76071	0.978;0.975;0.987;0.98;0.968;0.984	T	0.76027	-0.3109	10	0.72032	D	0.01	.	9.6803	0.40065	0.1771:0.0:0.8229:0.0	.	21;21;21;21;21;21	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	H	21	ENSP00000286186:R21H;ENSP00000353250:R21H;ENSP00000272879:R21H;ENSP00000363781:R21H;ENSP00000237865:R21H;ENSP00000314599:R21H;ENSP00000396835:R21H	ENSP00000272879:R21H	R	+	2	0	CASP10	201758807	0.201000	0.23410	0.021000	0.16686	0.036000	0.12997	0.779000	0.26746	1.286000	0.44565	0.655000	0.94253	CGT		0.463	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		134	419	0	0	0	1	0	134	419					A	202050562	G	A	202050562	3	1	79	1	0	0	0	0	1	0	0	0	2676	1145	40	1	64	1	CASP10	2	202050562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25286	202050562	41148811	3335	13652											
CASP8	841	broad.mit.edu	37	chr2	202149924	202149924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagatatatcccggatgaGgctgactttctgctggggat	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000432109.2	+	9	1377	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000358485.4_Silent_p.E455E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	396					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1363-1365)gaG>gaA		caspase 8, apoptosis-related cysteine peptidase							71	66	68					2																	202149924		2203	4300	6503	SO:0001819	synonymous_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149924G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1188G>A	2.37:g.202149924G>A		HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Silent_p.E396E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000323492.7_Silent_p.E381E	p.E455E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1561	+			396					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	c.1365G>A	CCDS2342.1																																																																																				0.463	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		86	246	0	0	0	1	0	86	246					A	202149924	G	A	202149924	2	1	79	1	0	0	0	0	0	0	0	1	2684	991	35	2		2	CASP8	2	202149924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99362	202149924	41049449	3336	13653											
CASP8	841	broad.mit.edu	37	chr2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccagagcctgagagagCgatgtcctcggtaagttttg	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			4	Substitution - Nonsense(4)	p.R449*(2)|p.R491*(2)	large_intestine(4)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1471-1473)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							88	79	82					2																	202150030		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202150030C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1294C>T	2.37:g.202150030C>T	ENSP00000412523:p.Arg432*	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*	p.R491*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1667	+			432					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1471C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA		0.507	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		96	298	0	0	0	1	0	96	298					T	202150030	C	T	202150030	4	4	79	1	0	0	0	0	0	1	0	0	2684	760	27	1	1601	1	CASP8	2	202150030	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	202150030	41049343	3337	13654											
TRAK2	66008	broad.mit.edu	37	chr2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgggaatgagatagAgcggccccgtgtgtcattgg	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	418	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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1252-1254)Tct>Cct		trafficking protein, kinesin binding 2							109	106	107					2																	202254168		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202254168A>G	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.1252T>C	2.37:g.202254168A>G	ENSP00000328875:p.Ser418Pro						p.S418P	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			12	1680	-			418	Missing (in Ref. 2).		Interaction with HGS (By similarity).		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1252T>C	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226869	0.39399	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48201	0.82	5.9	2.16	0.27623	Trafficking kinesin-binding protein domain (1);	0.319626	0.30193	N	0.010189	T	0.44623	0.1302	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.22386	0.039	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.0029	0.30308	0.6399:0.1238:0.0:0.2363	.	418	O60296	TRAK2_HUMAN	P	418;324	ENSP00000328875:S418P	ENSP00000328875:S418P	S	-	1	0	TRAK2	201962413	0.996000	0.38824	0.477000	0.27303	0.521000	0.34408	2.190000	0.42630	0.121000	0.18284	0.528000	0.53228	TCT		0.483	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		64	379	0	0	0	1	0	64	379					G	202254168	A	G	202254168	3	3	79	1	0	0	0	0	1	0	0	0	16503	304	11	4	1512	4	TRAK2	2	202254168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104138	202254168	40945205	3338	13655											
TRAK2	66008	broad.mit.edu	37	chr2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtagagatgagcagtaGggccagatctactacgaagt	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	356					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1066-1068)cCt>cAt		trafficking protein, kinesin binding 2							114	116	115					2																	202257678		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257678G>T	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.1067C>A	2.37:g.202257678G>T	ENSP00000328875:p.Pro356His						p.P356H	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			10	1495	-			356	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1067C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237315	0.79800	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.13778	2.56	4.78	4.78	0.61160	.	0.067807	0.64402	D	0.000011	T	0.30947	0.0781	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.02391	-1.1166	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.8338:0.1662	.	356	O60296	TRAK2_HUMAN	H	356;262	ENSP00000328875:P356H	ENSP00000328875:P356H	P	-	2	0	TRAK2	201965923	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.501000	0.73691	2.631000	0.89168	0.655000	0.94253	CCT		0.368	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		39	150	1	0	3.93418e-24	1	4.48831e-24	39	150					T	202257678	G	T	202257678	3	4	79	1	0	0	0	0	1	0	0	0	16503	1000	35	3	1705	3	TRAK2	2	202257678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3510	202257678	40941695	3339	13656											
TRAK2	66008	broad.mit.edu	37	chr2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatactcactcatgtaacggAaagtctcttcagcaaggact	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	92	HAP1 N-terminal.				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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(274-276)tTc>tAc		trafficking protein, kinesin binding 2							68	59	62					2																	202272137		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272137A>T	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.275T>A	2.37:g.202272137A>T	ENSP00000328875:p.Phe92Tyr					TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			3	703	-			92					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.275T>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803037	0.90623	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18174	2.23;2.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	T	0.08472	-1.0720	10	0.72032	D	0.01	.	15.2183	0.73288	1.0:0.0:0.0:0.0	.	92;92	E7EV21;O60296	.;TRAK2_HUMAN	Y	92	ENSP00000328875:F92Y;ENSP00000409333:F92Y	ENSP00000328875:F92Y	F	-	2	0	TRAK2	201980382	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.194000	0.89721	2.180000	0.69256	0.460000	0.39030	TTC		0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		54	140	0	0	0	1	0	54	140					T	202272137	A	T	202272137	3	4	79	1	0	0	0	0	1	0	0	0	16503	246	9	5	2525	5	TRAK2	2	202272137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14459	202272137	40927236	3340	13657											
STRADB	55437	broad.mit.edu	37	chr2	202339474	202339474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatttctccatttatggcCtatggtaagaatgctggttt	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(418-420)gcC>gcT		STE20-related kinase adaptor beta							84	85	85					2																	202339474		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202339474C>T	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.420C>T	2.37:g.202339474C>T						STRADB_ENST00000392249.2_Silent_p.A140A	p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			6	785	+			140			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.420C>T	CCDS2348.1																																																																																				0.343	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		110	329	0	0	0	1	0	110	329					T	202339474	C	T	202339474	2	4	79	1	0	0	0	0	0	0	0	1	15377	668	24	2		2	STRADB	2	202339474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67337	202339474	40859899	3341	13658											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		10	535						10	535	---	---	---	---	-	202352352	T	-	202352352	7	5	79	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	12878	202352352	40847021	3342	13659											
ALS2CR4	65062	broad.mit.edu	37	chr2	202492840	202492840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatccagggccaaaaaatttCggattgctactgatatttta	8	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202492840C>T	ENST00000409883.2	-	10	1018	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	TMEM237_ENST00000409444.2_Missense_Mutation_p.R293Q|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	301					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CAAAAAATTTCGGATTGCTAC	0.323																																						ENST00000409444.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						c.(877-879)cGa>cAa		transmembrane protein 237							52	50	50					2																	202492840		1814	4072	5886	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202492840C>T	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.902G>A	2.37:g.202492840C>T	ENSP00000386264:p.Arg301Gln					TMEM237_ENST00000409883.2_Missense_Mutation_p.R301Q|TMEM237_ENST00000466839.1_5'UTR	p.R293Q	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN			10	1195	-			325					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.878G>A	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773231	0.90108	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.38	4.5	0.54988	.	0.161524	0.49916	N	0.000136	T	0.76564	0.4005	M	0.68952	2.095	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79024	-0.1972	9	0.72032	D	0.01	-5.6558	13.7138	0.62685	0.0:0.9261:0.0:0.0739	.	301;325	E9PAR8;Q96Q45	.;TM237_HUMAN	Q	293;301;301;323;206	.	ENSP00000386949:R206Q	R	-	2	0	TMEM237	202201085	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.610000	0.54125	1.263000	0.44181	0.563000	0.77884	CGA		0.323	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		11	46	0	0	0	1	0	11	46					T	202492840	C	T	202492840	3	4	79	1	0	0	0	0	1	0	0	0	554	884	31	1	340	1	ALS2CR4	2	202492840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140488	202492840	40706533	3343	13660											
MPP4	58538	broad.mit.edu	37	chr2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggacatacccatgaGcactatgaggcggtacttgt	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409474.3	-	17	1501	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	432	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						ATACCCATGAGCACTATGAGG	0.537																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1294-1296)Ctc>Atc		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							35	38	37					2																	202520927		2083	4212	6295	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202520927G>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1294C>A	2.37:g.202520927G>T	ENSP00000387278:p.Leu432Ile					MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I	p.L432I	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			17	1501	-			432			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1294C>A	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315542	0.81469	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.076523	0.53938	D	0.000049	T	0.65165	0.2665	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.971;0.999;0.999;0.999;0.999;0.999;1.0	T	0.66060	-0.6017	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	374;357;408;401;388;425;432;397	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	I	432;388;357;432;397;361;408;374;425	ENSP00000387278:L432I;ENSP00000319363:L388I;ENSP00000353047:L432I;ENSP00000416781:L408I;ENSP00000387293:L374I;ENSP00000406160:L425I	ENSP00000319363:L388I	L	-	1	0	MPP4	202229172	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.790000	0.75115	2.676000	0.91093	0.655000	0.94253	CTC		0.537	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			6	47	1	0	0.0293803	1	0.0294705	6	47					T	202520927	G	T	202520927	3	4	79	1	0	0	0	0	1	0	0	0	9777	971	34	3	643	3	MPP4	2	202520927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28087	202520927	40678446	3344	13661											
ALS2	57679	broad.mit.edu	37	chr2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgacaacaatccagggaGggagagtcttcgactgcctc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	484					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAGGGAGGGAGAGTCTT	0.418																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1450-1452)Ctc>Atc		amyotrophic lateral sclerosis 2 (juvenile)							170	156	160					2																	202622146		1862	4102	5964	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202622146G>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1450C>A	2.37:g.202622146G>T	ENSP00000264276:p.Leu484Ile						p.L484I	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			5	1822	-			484					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.1450C>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835620	0.71373	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	.	0.064498	0.64402	D	0.000006	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.986	D;P;P	0.83275	0.996;0.872;0.744	T	0.59064	-0.7524	10	0.29301	T	0.29	.	14.4356	0.67279	0.07:0.0:0.93:0.0	.	484;484;484	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	I	484	ENSP00000264276:L484I	ENSP00000264276:L484I	L	-	1	0	ALS2	202330391	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.789000	0.69029	2.786000	0.95864	0.563000	0.77884	CTC		0.418	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		32	409	1	0	5.90632e-09	1	6.19411e-09	32	409					T	202622146	G	T	202622146	3	4	79	1	0	0	0	0	1	0	0	0	550	1000	35	3	3643	3	ALS2	2	202622146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101219	202622146	40577227	3345	13662											
ALS2	57679	broad.mit.edu	37	chr2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtagcaacagactgatCatttgctacaagagtgttct	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000496244.1_5'Flank|ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	298					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGACTGATCATTTGCTACA	0.458																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(892-894)Gat>Tat		amyotrophic lateral sclerosis 2 (juvenile)							175	165	168					2																	202625825		2052	4212	6264	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625825C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.892G>T	2.37:g.202625825C>A	ENSP00000264276:p.Asp298Tyr					ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1264	-			298					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.892G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184637	0.38609	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57907	0.37;0.72	6.17	3.3	0.37823	.	1.271760	0.05014	N	0.471553	T	0.38772	0.1053	N	0.22421	0.69	0.20873	N	0.999837	P;B;B;B	0.37636	0.603;0.091;0.016;0.0	B;B;B;B	0.33042	0.157;0.029;0.009;0.0	T	0.35425	-0.9789	10	0.66056	D	0.02	.	6.7842	0.23664	0.0:0.6066:0.2313:0.1621	.	298;298;298;298	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	298	ENSP00000264276:D298Y;ENSP00000429223:D298Y	ENSP00000264276:D298Y	D	-	1	0	ALS2	202334070	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.189000	0.32114	0.951000	0.37770	0.655000	0.94253	GAT		0.458	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		187	601	1	0	5.0888e-88	1	6.52675e-88	187	601					A	202625825	C	A	202625825	3	1	79	1	0	0	0	0	1	0	0	0	550	826	29	3	4283	3	ALS2	2	202625825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	202625825	40573548	3346	13663											
ALS2	57679	broad.mit.edu	37	chr2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcaatctctctggtgTtatgggaaaggatcctgcct	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T31P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	31					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTCTCTGGTGTTATGGGAAAG	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(91-93)Aca>Cca		amyotrophic lateral sclerosis 2 (juvenile)							103	101	102					2																	202632036		1911	4133	6044	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202632036T>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.91A>C	2.37:g.202632036T>G	ENSP00000264276:p.Thr31Pro					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T31P	p.T31P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			3	463	-			31					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.91A>C	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719253	0.68844	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	6.07	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.265070	0.42682	D	0.000678	D	0.89076	0.6612	M	0.74258	2.255	0.42157	D	0.99158	D;D;D;P	0.76494	0.999;0.98;0.974;0.944	D;P;P;P	0.69142	0.962;0.731;0.548;0.462	D	0.88998	0.3419	10	0.59425	D	0.04	.	9.9432	0.41593	0.0:0.1356:0.0:0.8644	.	31;31;31;31	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	P	31	ENSP00000264276:T31P;ENSP00000429223:T31P;ENSP00000386384:T31P;ENSP00000386948:T31P	ENSP00000264276:T31P	T	-	1	0	ALS2	202340281	0.931000	0.31567	0.807000	0.32361	0.997000	0.91878	1.289000	0.33307	1.114000	0.41781	0.533000	0.62120	ACA		0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		71	176	0	0	0	1	0	71	176					G	202632036	T	G	202632036	3	3	79	1	0	0	0	0	1	0	0	0	550	1725	60	4	5088	4	ALS2	2	202632036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6211	202632036	40567337	3347	13664											
CDK15	65061	broad.mit.edu	37	chr2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagggttcctgaagctgaaGacctggcctcccagatgcta	12	12	0	4	rs200366047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000374598.4	+	12	1084	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000450471.2_Missense_Mutation_p.D362Y			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1084-1086)Gac>Tac		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						64	62	62					2																	202744776		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744776G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1084G>T	2.37:g.202744776G>T	ENSP00000363726:p.Asp362Tyr					CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000374598.4_Missense_Mutation_p.D362Y	p.D362Y	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			12	1170	+			362			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.1084G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.96	5.96	0.96718	.	0.055265	0.64402	D	0.000001	T	0.79358	0.4432	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.83988	0.0336	10	0.87932	D	0	-16.011	15.4778	0.75497	0.0677:0.0:0.9323:0.0	.	362	F8W6H8	.	Y	311;311;362;362;362	ENSP00000386901:D311Y;ENSP00000260967:D311Y;ENSP00000406472:D362Y;ENSP00000412775:D362Y;ENSP00000363726:D362Y	ENSP00000260967:D311Y	D	+	1	0	CDK15	202453021	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.404000	0.66344	2.828000	0.97474	0.655000	0.94253	GAC		0.498	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			15	209	1	0	1.49906e-05	1	1.53515e-05	15	209					T	202744776	G	T	202744776	3	4	79	1	0	0	0	0	1	0	0	0	3140	942	33	3	973	3	CDK15	2	202744776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112740	202744776	40454597	3348	13665											
CDK15	65061	broad.mit.edu	37	chr2	202744820	202744820	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctttcccagagaccgcgtCtccgcccaggaagcacttgt	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000374598.4	+	12	1128	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000450471.2_Silent_p.V376V			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1126-1128)gtC>gtA		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						87	77	80					2																	202744820		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744820C>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1128C>A	2.37:g.202744820C>A						CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000374598.4_Silent_p.V376V	p.V376V	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			12	1214	+			376			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1128C>A																																																																																					0.547	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			57	211	1	0	7.10663e-31	1	8.35009e-31	57	211					A	202744820	C	A	202744820	2	1	79	1	0	0	0	0	0	0	0	1	3140	900	32	3		3	CDK15	2	202744820	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	202744820	40454553	3349	13666											
FZD7	8324	broad.mit.edu	37	chr2	202900483	202900483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcatgaagtggggccaCgaggccatcgaggccaactc	15	13	0	1	rs568883247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	371					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGGGGCCACGAGGCCATCG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.001					ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1111-1113)caC>caT		frizzled family receptor 7							66	67	67					2																	202900483		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900483C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1113C>T	2.37:g.202900483C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.H371H	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1174	+			371					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1113C>T	CCDS2351.1																																																																																				0.627	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		16	403	0	0	0	1	0	16	403					T	202900483	C	T	202900483	2	4	79	1	0	0	0	0	0	0	0	1	6162	535	19	1		1	FZD7	2	202900483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155663	202900483	40298890	3350	13667											
FZD7	8324	broad.mit.edu	37	chr2	202900639	202900639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggacgcgctgcggggCttcgtgctggcgcctctgtt	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	423					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1267-1269)ggC>ggT		frizzled family receptor 7							81	68	72					2																	202900639		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900639C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1269C>T	2.37:g.202900639C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.G423G	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1330	+			423					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1269C>T	CCDS2351.1																																																																																				0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		126	384	0	0	0	1	0	126	384					T	202900639	C	T	202900639	2	4	79	1	0	0	0	0	0	0	0	1	6162	784	28	2		2	FZD7	2	202900639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	202900639	40298734	3351	13668											
NOP58	51602	broad.mit.edu	37	chr2	203139885	203139885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtttatggaaagaatTtgaaactccagagaaagcaa	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203139885T>G	ENST00000264279.5	+	2	321	c.95T>G	c.(94-96)tTt>tGt	p.F32C	SNORD70_ENST00000391007.1_RNA|NOP58_ENST00000467734.1_Intron|SNORD70_ENST00000391232.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	32					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGGAAAGAATTTGAAACTCCA	0.284																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(94-96)tTt>tGt		NOP58 ribonucleoprotein							36	39	38					2																	203139885		2198	4286	6484	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203139885T>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.95T>G	2.37:g.203139885T>G	ENSP00000264279:p.Phe32Cys					NOP58_ENST00000467734.1_Intron	p.F32C	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			2	321	+			32					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.95T>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096477	0.76870	.	.	ENSG00000055044	ENST00000264279	T	0.62941	-0.01	5.06	5.06	0.68205	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.88640	2.97	0.80722	D	1	P;B	0.46706	0.883;0.228	P;B	0.52823	0.71;0.289	T	0.81929	-0.0708	10	0.59425	D	0.04	1.9211	14.6402	0.68717	0.0:0.0:0.0:1.0	.	32;32	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	C	32	ENSP00000264279:F32C	ENSP00000264279:F32C	F	+	2	0	NOP58	202848130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.017000	0.76399	2.126000	0.65437	0.533000	0.62120	TTT		0.284	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		4	133	0	0	0	1	0	4	133					G	203139885	T	G	203139885	3	3	79	1	0	0	0	0	1	0	0	0	10582	1841	64	4	101	4	NOP58	2	203139885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	239246	203139885	40059488	3352	13669											
NOP58	51602	broad.mit.edu	37	chr2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccacgtgaaatggcagCtatgtgtcttggattggctc	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	137					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAAATGGCAGCTATGTGTCTT	0.378																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(409-411)gCt>gTt		NOP58 ribonucleoprotein							126	118	121					2																	203149180		2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203149180C>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.410C>T	2.37:g.203149180C>T	ENSP00000264279:p.Ala137Val					NOP58_ENST00000467734.1_3'UTR	p.A137V	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			5	636	+			137					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.410C>T	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710497	0.89018	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76328	2.33	0.80722	D	1	D;P	0.54601	0.967;0.648	P;B	0.54346	0.749;0.36	T	0.70189	-0.4940	10	0.35671	T	0.21	-3.5345	19.2052	0.93728	0.0:1.0:0.0:0.0	.	137;137	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	V	137	ENSP00000264279:A137V	ENSP00000264279:A137V	A	+	2	0	NOP58	202857425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.591000	0.87537	0.655000	0.94253	GCT		0.378	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		12	508	0	0	0	1	0	12	508					T	203149180	C	T	203149180	3	4	79	1	0	0	0	0	1	0	0	0	10582	797	28	2	428	2	NOP58	2	203149180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9295	203149180	40050193	3353	13670											
BMPR2	659	broad.mit.edu	37	chr2	203395674	203395674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagataatgcagccataagCgaggtgagtgtatacaaaag	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374580.4	+	8	1664	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374574.2_Silent_p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGCCATAAGCGAGGTGAGTG	0.438																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1123-1125)agC>agT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							69	68	68					2																	203395674		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203395674C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1125C>T	2.37:g.203395674C>T						BMPR2_ENST00000374574.2_Silent_p.S375S	p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			8	1664	+			375			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.1125C>T	CCDS33361.1																																																																																				0.438	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		19	222	0	0	0	1	0	19	222					T	203395674	C	T	203395674	2	4	79	1	0	0	0	0	0	0	0	1	1473	767	27	1		1	BMPR2	2	203395674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246494	203395674	39803699	3354	13671											
BMPR2	659	broad.mit.edu	37	chr2	203417590	203417590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaacagtcaatccaatgtCtactgctatgcagaatgaac	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203417590C>T	ENST00000374580.4	+	11	2104	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	522					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCCAATGTCTACTGCTATG	0.418																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1564-1566)tCt>tTt		bone morphogenetic protein receptor, type II (serine/threonine kinase)							108	98	102					2																	203417590		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203417590C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1565C>T	2.37:g.203417590C>T	ENSP00000363708:p.Ser522Phe					BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			11	2104	+			522					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1565C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922814	0.73213	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89746	-2.56;-2.47	5.48	4.6	0.57074	.	0.345366	0.34802	N	0.003680	D	0.88355	0.6414	L	0.27053	0.805	0.43007	D	0.994533	P;D	0.60160	0.917;0.987	P;P	0.56216	0.603;0.794	D	0.89690	0.3897	10	0.66056	D	0.02	.	14.4135	0.67132	0.0:0.9286:0.0:0.0714	.	522;522	Q13161;Q13873	.;BMPR2_HUMAN	F	522	ENSP00000363708:S522F;ENSP00000363702:S522F	ENSP00000363702:S522F	S	+	2	0	BMPR2	203125835	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	5.706000	0.68362	1.308000	0.44962	0.491000	0.48974	TCT		0.418	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		9	402	0	0	0	1	0	9	402					T	203417590	C	T	203417590	3	4	79	1	0	0	0	0	1	0	0	0	1473	913	32	2	1607	2	BMPR2	2	203417590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21916	203417590	39781783	3355	13672											
BMPR2	659	broad.mit.edu	37	chr2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgttaactcccatgctgCcacaacccaatatgccaatg	6	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374580.4	+	12	3001	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	821					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCCCATGCTGCCACAACCCAA	0.458																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(2461-2463)gCc>gTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							83	74	77					2																	203420850		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420850C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2462C>T	2.37:g.203420850C>T	ENSP00000363708:p.Ala821Val					BMPR2_ENST00000374574.2_Intron	p.A821V	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			12	3001	+			821					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2462C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269427	0.40095	.	.	ENSG00000204217	ENST00000374580	D	0.89485	-2.52	5.97	5.97	0.96955	.	0.329198	0.36778	N	0.002408	T	0.79511	0.4458	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73506	-0.3961	10	0.45353	T	0.12	.	10.7522	0.46216	0.0:0.7854:0.1427:0.0719	.	821	Q13873	BMPR2_HUMAN	V	821	ENSP00000363708:A821V	ENSP00000363708:A821V	A	+	2	0	BMPR2	203129095	0.784000	0.28713	1.000000	0.80357	0.986000	0.74619	1.333000	0.33816	2.836000	0.97738	0.655000	0.94253	GCC		0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		58	275	0	0	0	1	0	58	275					T	203420850	C	T	203420850	3	4	79	1	0	0	0	0	1	0	0	0	1473	739	26	2	2508	2	BMPR2	2	203420850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3260	203420850	39778523	3356	13673											
BMPR2	659	broad.mit.edu	37	chr2	203424527	203424527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccacctgggtcatctCcactgaatcgctggactgtg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203424527C>T	ENST00000374580.4	+	13	3514	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	992					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGGTCATCTCCACTGAATCG	0.483																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(2974-2976)tCc>tTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							94	85	88					2																	203424527		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203424527C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2975C>T	2.37:g.203424527C>T	ENSP00000363708:p.Ser992Phe					BMPR2_ENST00000374574.2_3'UTR	p.S992F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			13	3514	+			992					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2975C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574230	0.65878	.	.	ENSG00000204217	ENST00000374580	D	0.91894	-2.93	5.65	5.65	0.86999	.	0.100576	0.64402	D	0.000001	D	0.88470	0.6445	L	0.27053	0.805	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	D	0.89783	0.3962	10	0.87932	D	0	.	19.7342	0.96195	0.0:1.0:0.0:0.0	.	992	Q13873	BMPR2_HUMAN	F	992	ENSP00000363708:S992F	ENSP00000363708:S992F	S	+	2	0	BMPR2	203132772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.686000	0.91538	0.650000	0.86243	TCC		0.483	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		12	258	0	0	0	1	0	12	258					T	203424527	C	T	203424527	3	4	79	1	0	0	0	0	1	0	0	0	1473	855	30	2	3025	2	BMPR2	2	203424527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	203424527	39774846	3357	13674											
NBEAL1	65065	broad.mit.edu	37	chr2	204016309	204016309	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctagtgccttgagagataatCtgggtgagttccaatgactg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1833										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAGAGATAATCTGGGTGAGTT	0.358																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5497-5499)Ctg>Ttg		neurobeachin-like 1							74	69	70					2																	204016309		1856	4108	5964	SO:0001819	synonymous_variant	65065						binding	g.chr2:204016309C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5497C>T	2.37:g.204016309C>T							p.L1833L	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			34	5830	+			1833					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.5497C>T	CCDS46495.1																																																																																				0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			34	232	0	0	0	1	0	34	232					T	204016309	C	T	204016309	2	4	79	1	0	0	0	0	0	0	0	1	10229	912	32	2		2	NBEAL1	2	204016309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591782	204016309	39183064	3358	13675											
NBEAL1	65065	broad.mit.edu	37	chr2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaaattcgagagattcatCtccggcgttacaatttaaga	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1943										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGATTCATCTCCGGCGTTA	0.363																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5827-5829)Ctc>Atc		neurobeachin-like 1							129	118	121					2																	204032000		1813	4084	5897	SO:0001583	missense	65065						binding	g.chr2:204032000C>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5827C>A	2.37:g.204032000C>A	ENSP00000399903:p.Leu1943Ile						p.L1943I	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			37	6160	+			1943					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5827C>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734574	0.69189	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56275	0.47	5.29	-1.69	0.08186	PH-BEACH domain (1);	0.144540	0.46758	D	0.000266	T	0.67268	0.2875	M	0.81497	2.545	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.66200	-0.5983	10	0.26408	T	0.33	.	12.7381	0.57236	0.0:0.2437:0.0:0.7563	.	1943;1932	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	1943	ENSP00000399903:L1943I	ENSP00000344985:L1943I	L	+	1	0	NBEAL1	203740245	0.839000	0.29477	0.359000	0.25824	0.897000	0.52465	0.416000	0.21198	-0.285000	0.09089	0.563000	0.77884	CTC		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			94	480	1	0	9.24773e-40	1	1.11906e-39	94	480					A	204032000	C	A	204032000	3	1	79	1	0	0	0	0	1	0	0	0	10229	913	32	3	5969	3	NBEAL1	2	204032000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15691	204032000	39167373	3359	13676											
CYP20A1	57404	broad.mit.edu	37	chr2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggttaatttgcatgagaGatatgggcctgtggtctcct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428																																						ENST00000356079.4																			1	Substitution - Missense(1)	p.R64I(1)	lung(1)	cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(190-192)aGa>aTa		cytochrome P450, family 20, subfamily A, polypeptide 1							306	291	296					2																	204111546		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204111546G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.191G>T	2.37:g.204111546G>T	ENSP00000348380:p.Arg64Ile					CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I|CYP20A1_ENST00000461371.1_Intron	p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			3	314	+			64					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.191G>T	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939281	0.73557	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.36	4.49	0.54785	.	0.285799	0.39210	N	0.001432	T	0.68622	0.3021	L	0.47716	1.5	0.36984	D	0.89446	D;P	0.55800	0.973;0.769	P;P	0.54815	0.761;0.544	T	0.75124	-0.3428	10	0.87932	D	0	-7.0928	9.1118	0.36732	0.2098:0.0:0.7902:0.0	.	64;64	E9PHG5;Q6UW02	.;CP20A_HUMAN	I	64	ENSP00000348380:R64I;ENSP00000407860:R64I;ENSP00000411341:R64I	ENSP00000348380:R64I	R	+	2	0	CYP20A1	203819791	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	4.114000	0.57858	1.285000	0.44548	-0.213000	0.12676	AGA		0.428	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		18	1201	1	0	2.32078e-09	1	2.442e-09	18	1201					T	204111546	G	T	204111546	3	4	79	1	0	0	0	0	1	0	0	0	4163	942	33	3	201	3	CYP20A1	2	204111546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79546	204111546	39087827	3360	13677											
CYP20A1	57404	broad.mit.edu	37	chr2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccagcatatgcttgGttttgctatgaagtctgtta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000356079.4	+	5	632	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	170						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(508-510)gGt>gAt		cytochrome P450, family 20, subfamily A, polypeptide 1							139	131	134					2																	204131313		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204131313G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.509G>A	2.37:g.204131313G>A	ENSP00000348380:p.Gly170Asp					CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D|CYP20A1_ENST00000461371.1_3'UTR	p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			5	632	+			170					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.509G>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504620	0.85176	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	5.19	0.71726	.	0.168452	0.51477	D	0.000082	T	0.75474	0.3854	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.62365	0.991;0.732	P;B	0.61070	0.883;0.377	T	0.75485	-0.3301	10	0.45353	T	0.12	-13.052	18.708	0.91645	0.0:0.0:1.0:0.0	.	170;170	E9PHG5;Q6UW02	.;CP20A_HUMAN	D	170	ENSP00000348380:G170D;ENSP00000407860:G170D;ENSP00000411341:G170D	ENSP00000348380:G170D	G	+	2	0	CYP20A1	203839558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.123000	0.89586	2.383000	0.81215	0.650000	0.86243	GGT		0.433	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		190	527	0	0	0	1	0	190	527					A	204131313	G	A	204131313	3	1	79	1	0	0	0	0	1	0	0	0	4163	1261	44	2	527	2	CYP20A1	2	204131313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19767	204131313	39068060	3361	13678											
CYP20A1	57404	broad.mit.edu	37	chr2	204156990	204156990	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttttttcacagaccctCgtcctttatgcccttggtgt	6	11	1	1	rs149090400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000356079.4	+	11	1212	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.L371L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.0		0.0	False		,,,				2504	0.001					ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(1087-1089)ctC>ctT		cytochrome P450, family 20, subfamily A, polypeptide 1		C		2,4404	4.2+/-10.8	0,2,2201	174	165	168		1089	-1.8	1	2	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	CYP20A1	NM_177538.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		363/463	204156990	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204156990C>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1089C>T	2.37:g.204156990C>T						CYP20A1_ENST00000429815.2_Silent_p.L371L|CYP20A1_ENST00000461371.1_3'UTR	p.L363L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			11	1212	+			363					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	37	c.1089C>T	CCDS2357.1																																																																																				0.343	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		89	592	0	0	0	1	0	89	592					T	204156990	C	T	204156990	2	4	79	1	0	0	0	0	0	0	0	1	4163	871	31	1		1	CYP20A1	2	204156990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	204156990	39042383	3362	13679											
ABI2	10152	broad.mit.edu	37	chr2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcctgcagatgCtggatatccaggcatcccag	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000261016.6	+	2	346	c.15C>A	c.(13-15)tgC>tgA	p.C5*	ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGCAGATGCTGGATATCCA	0.443																																						ENST00000261016.6																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(13-15)tgC>tgA		abl-interactor 2							130	112	118					2																	204231708		2203	4300	6503	SO:0001587	stop_gained	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204231708C>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000261016.6:c.15C>A	2.37:g.204231708C>A	ENSP00000261016:p.Cys5*					ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.4_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M	p.C5*			Q9NYB9	ABI2_HUMAN			2	346	+			0					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Nonsense_Mutation	SNP	ENST00000261016.6	37	c.15C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715171|4.715171	0.89112|0.89112	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000261016|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.42|5.42	3.29|3.29	0.37713|0.37713	.|Target SNARE coiled-coil domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93746	.|0.8001	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.988;0.971	.|D;P;D	.|0.70716	.|0.965;0.864;0.97	.|D	.|0.92531	.|0.6033	.|10	0.45353|0.42905	T|T	0.12|0.14	-8.6106|-8.6106	10.4872|10.4872	0.44729|0.44729	0.0:0.7672:0.0:0.2328|0.0:0.7672:0.0:0.2328	.|.	.|76;76;76	.|Q9NYB9-4;Q9NYB9;Q9NYB9-2	.|.;ABI2_HUMAN;.	X|M	5|76	.|ENSP00000295851:L76M;ENSP00000261017:L76M;ENSP00000408898:L76M;ENSP00000391433:L76M;ENSP00000414703:L76M;ENSP00000396249:L76M	ENSP00000261016:C5X|ENSP00000261017:L76M	C|L	+|+	3|1	2|2	ABI2|ABI2	203939953|203939953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.708000|2.708000	0.47152|0.47152	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	TGC|CTG		0.443	ABI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005759		61	260	1	0	2.6711e-34	1	3.17551e-34	61	260					A	204231708	C	A	204231708	4	1	79	1	0	0	0	0	0	1	0	0	89	796	28	3	232	3	ABI2	2	204231708	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74718	204231708	38967665	3363	13680											
RAPH1	65059	broad.mit.edu	37	chr2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacatgcctttgcaatgCggatcccattgacccactga	10	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGCAATGCGGATCCCATT	0.373																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1501-1503)cGc>cAc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							162	145	151					2																	204313471		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204313471C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1502G>A	2.37:g.204313471C>T	ENSP00000316543:p.Arg501His					RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H	p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			11	1801	-			501			PH.		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1502G>A	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029621	0.93518	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000930	D	0.88819	0.6540	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.90902	0.4769	10	0.87932	D	0	-13.2136	18.7336	0.91746	0.0:1.0:0.0:0.0	.	553;553;501	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	H	501;501;553;528;526;553;526;501;528;553;526;501;528	ENSP00000392854:R501H;ENSP00000316543:R501H;ENSP00000363617:R553H;ENSP00000363613:R528H;ENSP00000363612:R526H;ENSP00000311293:R553H;ENSP00000411138:R526H;ENSP00000390578:R501H;ENSP00000397751:R528H;ENSP00000406662:R553H;ENSP00000396711:R501H	ENSP00000311293:R553H	R	-	2	0	RAPH1	204021716	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.427000	0.82271	0.467000	0.42956	CGC		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		96	329	0	0	0	1	0	96	329					T	204313471	C	T	204313471	3	4	79	1	0	0	0	0	1	0	0	0	13100	768	27	1	2273	1	RAPH1	2	204313471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81763	204313471	38885902	3364	13681											
RAPH1	65059	broad.mit.edu	37	chr2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagataccagatgctcGcaagagaaaataacgctttt	8	7	0	3	rs541215148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1261-1263)Cga>Tga		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							146	146	146					2																	204320201		2203	4300	6503	SO:0001587	stop_gained	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204320201G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1261C>T	2.37:g.204320201G>A	ENSP00000316543:p.Arg421*					RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*	p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			9	1560	-			421			PH.		Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	c.1261C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	RAPH1	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		15	766	0	0	0	1	0	15	766					A	204320201	G	A	204320201	4	1	79	1	0	0	0	0	0	1	0	0	13100	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6730	204320201	38879172	3365	13682											
CTLA4	1493	broad.mit.edu	37	chr2	204737463	204737463	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccctcttacaacaggggtCtatgtgaaaatgcccccaac	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000302823.3	+	4	757	c.600C>A	c.(598-600)gtC>gtA	p.V200V	CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000427473.2_Missense_Mutation_p.L127I	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	200					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CAACAGGGGTCTATGTGAAAA	0.378																																						ENST00000427473.2																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(379-381)Cta>Ata		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						94	95	95					2																	204737463		2203	4300	6503	SO:0001819	synonymous_variant	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204737463C>A		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	2505	protein-coding gene	gene with protein product		123890	"celiac disease 3", "insulin-dependent diabetes mellitus 12"	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.600C>A	2.37:g.204737463C>A						CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000302823.3_Silent_p.V200V|CTLA4_ENST00000487393.1_3'UTR	p.L127I			P16410	CTLA4_HUMAN			3	524	+			0			Ig-like V-type.		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.379C>A	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062914	0.55432	.	.	ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473	T;T	0.50277	0.75;1.48	5.72	4.82	0.62117	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.25026	N	0.991305	P	0.41041	0.736	B	0.38500	0.275	T	0.37384	-0.9708	8	0.87932	D	0	0.2161	13.2854	0.60241	0.1584:0.8416:0.0:0.0	.	69	P16410-4	.	I	164;69;127	ENSP00000295854:L164I;ENSP00000417779:L69I	ENSP00000295854:L164I	L	+	1	2	CTLA4	204445708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.129000	0.42055	1.354000	0.45846	0.561000	0.74099	CTA		0.378	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		32	339	1	0	3.93418e-24	1	4.48831e-24	32	339					A	204737463	C	A	204737463	2	1	79	1	0	0	0	0	0	0	0	1	4022	912	32	3		3	CTLA4	2	204737463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417262	204737463	38461910	3366	13683											
PARD3B	117583	broad.mit.edu	37	chr2	205983693	205983693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacaacagcaggtccaaGcgggagggactatttcacga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	243	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(727-729)aaG>aaA		par-3 family cell polarity regulator beta							90	88	89					2																	205983693		1856	4097	5953	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983693G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.729G>A	2.37:g.205983693G>A						PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K	p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	936	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	243			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.729G>A																																																																																					0.333	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		70	336	0	0	0	1	0	70	336					A	205983693	G	A	205983693	2	1	79	1	0	0	0	0	0	0	0	1	11486	962	34	2		2	PARD3B	2	205983693	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246230	205983693	37215680	3367	13684											
PARD3B	117583	broad.mit.edu	37	chr2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaggttcactcattggCtggacaaaaatcgggtaaga	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	724					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393																																						ENST00000406610.2																			3	Substitution - Missense(3)	p.A662V(1)|p.A724V(1)|p.A663V(1)	endometrium(3)	breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2170-2172)gCt>gTt		par-3 family cell polarity regulator beta							154	146	149					2																	206110532		1829	4086	5915	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206110532C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2171C>T	2.37:g.206110532C>T	ENSP00000385848:p.Ala724Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V	p.A724V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	16	2378	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	724					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2171C>T		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603768	0.28534	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.31247	1.54;1.54;1.5;1.54	5.85	4.97	0.65823	.	0.164519	0.40728	N	0.001039	T	0.24236	0.0587	L	0.39633	1.23	0.35627	D	0.80992	P;B;B;P;B	0.39181	0.663;0.282;0.063;0.532;0.007	B;B;B;B;B	0.35607	0.206;0.102;0.026;0.175;0.013	T	0.21895	-1.0232	10	0.30854	T	0.27	.	12.6935	0.56990	0.0:0.9246:0.0:0.0754	.	724;724;724;662;724	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	724;662;724;724	ENSP00000385848:A724V;ENSP00000351618:A662V;ENSP00000317261:A724V;ENSP00000340280:A724V	ENSP00000340280:A724V	A	+	2	0	PARD3B	205818777	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.570000	0.45981	2.768000	0.95171	0.655000	0.94253	GCT		0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		107	310	0	0	0	1	0	107	310					T	206110532	C	T	206110532	3	4	79	1	0	0	0	0	1	0	0	0	11486	797	28	2	2233	2	PARD3B	2	206110532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126839	206110532	37088841	3368	13685											
PARD3B	117583	broad.mit.edu	37	chr2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggagagtctgcagactgCagtggccgaggtcaggaaga	16	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	753					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2257-2259)gCa>gTa		par-3 family cell polarity regulator beta							98	98	98					2																	206165326		1904	4134	6038	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165326C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2258C>T	2.37:g.206165326C>T	ENSP00000385848:p.Ala753Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron	p.A753V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2465	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	753					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2258C>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704456	0.88924	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.34472	1.36;1.36;1.36	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.62233	0.2411	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.59643	-0.7416	10	0.46703	T	0.11	.	19.9376	0.97146	0.0:1.0:0.0:0.0	.	753;691;753	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	753;691;753	ENSP00000385848:A753V;ENSP00000351618:A691V;ENSP00000340280:A753V	ENSP00000340280:A753V	A	+	2	0	PARD3B	205873571	1.000000	0.71417	0.182000	0.23118	0.772000	0.43724	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GCA		0.532	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		121	616	0	0	0	1	0	121	616					T	206165326	C	T	206165326	3	4	79	1	0	0	0	0	1	0	0	0	11486	710	25	2	2324	2	PARD3B	2	206165326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54794	206165326	37034047	3369	13686											
PARD3B	117583	broad.mit.edu	37	chr2	206166414	206166414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagaagaagggcttcggCgccatgctgaggtatgggcc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	873	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2617-2619)ggC>ggT		par-3 family cell polarity regulator beta							49	50	50					2																	206166414		1880	4100	5980	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166414C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2619C>T	2.37:g.206166414C>T						PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000358768.2_Silent_p.G811G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G	p.G873G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	18	2826	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	873			Lys-rich.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.2619C>T																																																																																					0.433	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		50	218	0	0	0	1	0	50	218					T	206166414	C	T	206166414	2	4	79	1	0	0	0	0	0	0	0	1	11486	755	27	1		1	PARD3B	2	206166414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	206166414	37032959	3370	13687											
NRP2	8828	broad.mit.edu	37	chr2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggcatggagtctggcCggattgctaatgaacagatc	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000357785.5	+	6	890	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000360409.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGTCTGGCCGGATTGCTAA	0.547																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(859-861)Cgg>Tgg		neuropilin 2							139	116	124					2																	206590675		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590675C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.859C>T	2.37:g.206590675C>T	ENSP00000350432:p.Arg287Trp					NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000357785.5_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W	p.R287W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1650	+			287			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.859C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650759	0.67472	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	6.07	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.047005	0.85682	D	0.000000	D	0.97294	0.9115	L	0.56124	1.755	0.51012	D	0.999905	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	0.74023	0.963;0.963;0.982;0.98;0.98;0.919	D	0.96444	0.9329	10	0.66056	D	0.02	-15.2974	12.0479	0.53491	0.3823:0.5536:0.0:0.064	.	287;287;287;287;287;287	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	W	287	ENSP00000353582:R287W;ENSP00000439658:R287W;ENSP00000439261:R287W;ENSP00000347238:R287W;ENSP00000387519:R287W;ENSP00000349632:R287W;ENSP00000350432:R287W;ENSP00000407626:R287W;ENSP00000272849:R287W	ENSP00000272849:R287W	R	+	1	2	NRP2	206298920	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.166000	0.31834	0.387000	0.25024	-0.136000	0.14681	CGG		0.547	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			25	301	0	0	0	1	0	25	301					T	206590675	C	T	206590675	3	4	79	1	0	0	0	0	1	0	0	0	10703	643	23	1	881	1	NRP2	2	206590675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424261	206590675	36608698	3371	13688											
NRP2	8828	broad.mit.edu	37	chr2	206592644	206592644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctttttaaccatgctcacGgccatcgcaacacagggagc	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000357785.5	+	7	1051	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502																																						ENST00000360409.3																			1	Substitution - coding silent(1)	p.T340T(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1018-1020)acG>acA		neuropilin 2							95	79	84					2																	206592644		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206592644G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1020G>A	2.37:g.206592644G>A						NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000357785.5_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T	p.T340T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			7	1811	+			340			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.1020G>A	CCDS46496.1																																																																																				0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			36	119	0	0	0	1	0	36	119					A	206592644	G	A	206592644	2	1	79	1	0	0	0	0	0	0	0	1	10703	1103	39	1		1	NRP2	2	206592644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1969	206592644	36606729	3372	13689											
NRP2	8828	broad.mit.edu	37	chr2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagccccagtgcagccCgcctggttagcagccgctcg	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000357785.5	+	9	1427	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000360409.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGCAGCCCGCCTGGTTAG	0.617																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1396-1398)Cgc>Tgc		neuropilin 2							67	78	74					2																	206608031		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206608031C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1396C>T	2.37:g.206608031C>T	ENSP00000350432:p.Arg466Cys					NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000357785.5_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C	p.R466C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			9	2187	+			466			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1396C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432000	0.83776	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95850	3.73	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	0.98619	1.0666	10	0.87932	D	0	-30.6319	20.3928	0.98949	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	466	ENSP00000353582:R466C;ENSP00000439658:R466C;ENSP00000439261:R466C;ENSP00000347238:R466C;ENSP00000387519:R466C;ENSP00000349632:R466C;ENSP00000350432:R466C;ENSP00000407626:R466C;ENSP00000272849:R466C	ENSP00000272849:R466C	R	+	1	0	NRP2	206316276	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.910000	0.56371	2.813000	0.96785	0.655000	0.94253	CGC		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			283	864	0	0	0	1	0	283	864					T	206608031	C	T	206608031	3	4	79	1	0	0	0	0	1	0	0	0	10703	652	23	1	1430	1	NRP2	2	206608031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15387	206608031	36591342	3373	13690											
NRP2	8828	broad.mit.edu	37	chr2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatgcggccaagaagaccGatcactccatcacctacaaa	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAGAAGACCGATCACTCCAT	0.632											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357118.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2599-2601)Gat>Aat		neuropilin 2							109	95	100					2																	206641143		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206641143G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2599G>A	2.37:g.206641143G>A	ENSP00000349632:p.Asp867Asn		OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540178.1_Intron	p.D867N	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN			16	2630	+			0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357118.4	37	c.2599G>A	CCDS46498.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818869	0.71028	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.87571	-2.26;-2.27	5.56	5.56	0.83823	.	.	.	.	.	D	0.85656	0.5747	.	.	.	0.80722	D	1	B;B	0.27765	0.188;0.188	B;B	0.26693	0.072;0.072	D	0.83503	0.0076	8	0.66056	D	0.02	.	19.5306	0.95228	0.0:0.0:1.0:0.0	.	867;872	O60462-4;O60462-5	.;.	N	867;872	ENSP00000349632:D867N;ENSP00000272849:D872N	ENSP00000272849:D872N	D	+	1	0	NRP2	206349388	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.299000	0.65716	2.609000	0.88269	0.561000	0.74099	GAT		0.632	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			154	727	0	0	0	1	0	154	727					A	206641143	G	A	206641143	3	1	79	1	0	0	0	0	1	0	0	0	10703	1058	37	1	2703	1	NRP2	2	206641143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33112	206641143	36558230	3374	13691											
NRP2	8828	broad.mit.edu	37	chr2	206657010	206657010	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgaagatgaaattgatgGtgagtactgttatgatttag	11	1	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	ENST00000357785.5	+	16	2507		c.e16+1		NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000412873.2_Intron			Q99435	NELL2_HUMAN	neuropilin 2							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAAATTGATGGTGAGTACTGT	0.333																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.e16+1		neuropilin 2							159	166	164					2																	206657010		2203	4300	6503	SO:0001630	splice_region_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206657010G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2476+1G>A	2.37:g.206657010G>A						NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Splice_Site|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Splice_Site		NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			16	3282	+								B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	ENST00000357785.5	37		CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787777	0.70337	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRP2	206365255	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.542000	0.53625	2.941000	0.99782	0.655000	0.94253	.		0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		Intron	10	452	0	0	0	1	0	10	452					A	206657010	G	A	206657010	5	1	79	1	0	0	0	0	0	0	1	0	10703	1275	44	2	2866	2	NRP2	2	206657010	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15867	206657010	36542363	3375	13692											
NRP2	8828	broad.mit.edu	37	chr2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttctgcaacctcagggtCtggcgccccctcgaccgaca	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000357785.5	+	17	2556	c.2525C>A	c.(2524-2526)tCt>tAt	p.S842Y	NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000360409.3_Missense_Mutation_p.S847Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTCAGGGTCTGGCGCCCCC	0.542																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2539-2541)tCt>tAt		neuropilin 2							86	81	82					2																	206659526		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659526C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2525C>A	2.37:g.206659526C>A	ENSP00000350432:p.Ser842Tyr					NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000357785.5_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y	p.S847Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3331	+			847					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2540C>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630746	0.14322	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.2;-2.22;-2.29;-2.26;-2.33	5.93	5.93	0.95920	.	0.331275	0.31624	N	0.007325	T	0.75384	0.3842	N	0.08118	0	0.49915	D	0.999834	P;B;B	0.39282	0.666;0.205;0.14	B;B;B	0.36608	0.229;0.107;0.197	T	0.79274	-0.1871	10	0.59425	D	0.04	-6.0122	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	825;842;847	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	847;842;825;842;825	ENSP00000353582:S847Y;ENSP00000439658:S842Y;ENSP00000439261:S825Y;ENSP00000350432:S842Y;ENSP00000407626:S825Y	ENSP00000350432:S842Y	S	+	2	0	NRP2	206367771	0.915000	0.31059	0.406000	0.26421	0.046000	0.14306	2.831000	0.48144	2.826000	0.97356	0.655000	0.94253	TCT		0.542	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			113	500	1	0	1.07149e-41	1	1.30274e-41	113	500					A	206659526	C	A	206659526	3	1	79	1	0	0	0	0	1	0	0	0	10703	913	32	3	2918	3	NRP2	2	206659526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2516	206659526	36539847	3376	13693											
NRP2	8828	broad.mit.edu	37	chr2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctcctgggggccacctGtgcaggcctcctgctctact	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000357785.5	+	17	2664	c.2633G>A	c.(2632-2634)tGt>tAt	p.C878Y	NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000360409.3_Missense_Mutation_p.C883Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGGCCACCTGTGCAGGCCTC	0.592																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2647-2649)tGt>tAt		neuropilin 2							99	88	92					2																	206659634		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659634G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2633G>A	2.37:g.206659634G>A	ENSP00000350432:p.Cys878Tyr					NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000357785.5_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y	p.C883Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3439	+			883					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2648G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123578	0.77436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.94000	-2.98;-2.98;-3.33;-3.03;-3.28	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.283286	0.45867	D	0.000335	D	0.96445	0.8840	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96002	0.8994	10	0.87932	D	0	-20.5075	20.8794	0.99867	0.0:0.0:1.0:0.0	.	861;878;883	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	883;878;861;878;861	ENSP00000353582:C883Y;ENSP00000439658:C878Y;ENSP00000439261:C861Y;ENSP00000350432:C878Y;ENSP00000407626:C861Y	ENSP00000350432:C878Y	C	+	2	0	NRP2	206367879	1.000000	0.71417	0.917000	0.36280	0.669000	0.39330	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT		0.592	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			96	488	0	0	0	1	0	96	488					A	206659634	G	A	206659634	3	1	79	1	0	0	0	0	1	0	0	0	10703	1377	48	2	3026	2	NRP2	2	206659634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	206659634	36539739	3377	13694											
INO80D	54891	broad.mit.edu	37	chr2	206869669	206869669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggtcactgtagggagacGgcacatgctcactatcataa	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869669G>A	ENST00000403263.1	-	11	2911	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	836					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(2506-2508)cCg>cTg		INO80 complex subunit D							254	241	245					2																	206869669		2150	4259	6409	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869669G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2507C>T	2.37:g.206869669G>A	ENSP00000384198:p.Pro836Leu						p.P836L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	2911	-			836					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2507C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525585	0.64860	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.91	5.02	0.67125	.	0.166320	0.53938	D	0.000043	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.40285	0.325	T	0.04522	-1.0945	10	0.27785	T	0.31	.	17.0934	0.86627	0.0:0.1268:0.8732:0.0	.	836	Q53TQ3-2	.	L	836	ENSP00000384198:P836L	ENSP00000233270:P836L	P	-	2	0	INO80D	206577914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	1.482000	0.48325	-0.175000	0.13238	CCG		0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		17	987	0	0	0	1	0	17	987					A	206869669	G	A	206869669	3	1	79	1	0	0	0	0	1	0	0	0	7779	1116	39	1	580	1	INO80D	2	206869669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210035	206869669	36329704	3378	13695											
INO80D	54891	broad.mit.edu	37	chr2	206870181	206870181	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatggtactcaggcactcGagagaagttacagcctgcaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	665					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(1993-1995)ctC>ctT		INO80 complex subunit D							82	75	77					2																	206870181		1972	4171	6143	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206870181G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1995C>T	2.37:g.206870181G>A							p.L665L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	2399	-			665					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.1995C>T	CCDS46500.1																																																																																				0.542	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		52	241	0	0	0	1	0	52	241					A	206870181	G	A	206870181	2	1	79	1	0	0	0	0	0	0	0	1	7779	1045	37	1		1	INO80D	2	206870181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	512	206870181	36329192	3379	13696											
NDUFS1	4719	broad.mit.edu	37	chr2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacattcacctccctggTcacaaataggacagtccaat	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	132					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCTCCCTGGTCACAAATAGG	0.363																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(394-396)gAc>gGc		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						104	98	100					2																	207012502		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207012502T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.395A>G	2.37:g.207012502T>C	ENSP00000233190:p.Asp132Gly					NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G	p.D132G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			6	661	-			132					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.395A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698959	0.88830	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92268	3.29	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	0.93671	0.6990	10	0.87932	D	0	-15.8477	14.5723	0.68220	0.0:0.0:0.0:1.0	.	21;96;146;132	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	132;75;16;96;146;132;21	ENSP00000233190:D132G;ENSP00000397760:D75G;ENSP00000400976:D16G;ENSP00000409766:D96G;ENSP00000392709:D146G;ENSP00000399912:D132G;ENSP00000409689:D21G	ENSP00000233190:D132G	D	-	2	0	NDUFS1	206720747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.890000	0.54733	0.482000	0.46254	GAC		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		156	407	0	0	0	1	0	156	407					C	207012502	T	C	207012502	3	2	79	1	0	0	0	0	1	0	0	0	10333	1667	58	4	1844	4	NDUFS1	2	207012502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142321	207012502	36186871	3380	13697											
ZDBF2	57683	broad.mit.edu	37	chr2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgcaggaggtttcagttcGaccatcagttattcaaaaac	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	134							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(400-402)cGa>cAa		zinc finger, DBF-type containing 2							64	59	60					2																	207169653		1891	4120	6011	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169653G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.401G>A	2.37:g.207169653G>A	ENSP00000363545:p.Arg134Gln						p.R134Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	787	+			134					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.401G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040714	0.75732	.	.	ENSG00000204186	ENST00000374423	T	0.17854	2.25	5.16	4.28	0.50868	.	0.000000	0.29745	N	0.011318	T	0.25269	0.0614	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.58331	0.837	T	0.14924	-1.0455	10	0.48119	T	0.1	.	3.991	0.09537	0.0872:0.2749:0.4964:0.1415	.	134	Q9HCK1	ZDBF2_HUMAN	Q	134	ENSP00000363545:R134Q	ENSP00000363545:R134Q	R	+	2	0	ZDBF2	206877898	0.012000	0.17670	0.811000	0.32455	0.976000	0.68499	0.947000	0.29082	2.402000	0.81655	0.650000	0.86243	CGA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		51	118	0	0	0	1	0	51	118					A	207169653	G	A	207169653	3	1	79	1	0	0	0	0	1	0	0	0	17652	1058	37	1	411	1	ZDBF2	2	207169653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157151	207169653	36029720	3381	13698											
ZDBF2	57683	broad.mit.edu	37	chr2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccactagtgactaccccCaacaatctgtaacagaagta	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	510							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1528-1530)Caa>Taa		zinc finger, DBF-type containing 2							143	133	136					2																	207170780		1909	4130	6039	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207170780C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1528C>T	2.37:g.207170780C>T	ENSP00000363545:p.Gln510*						p.Q510*	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1914	+			510					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.1528C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735202	0.96865	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.06	-0.121	0.13535	.	1.033700	0.07765	N	0.950725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.6918	0.17833	0.4899:0.4142:0.0:0.0959	.	.	.	.	X	510	.	ENSP00000363545:Q510X	Q	+	1	0	ZDBF2	206879025	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.100000	0.10990	-0.034000	0.13713	0.585000	0.79938	CAA		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		39	235	0	0	0	1	0	39	235					T	207170780	C	T	207170780	4	4	79	1	0	0	0	0	0	1	0	0	17652	595	21	2	1538	2	ZDBF2	2	207170780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1127	207170780	36028593	3382	13699											
ZDBF2	57683	broad.mit.edu	37	chr2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgatcaacccaaaGtagctattaaacatgtgaac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3397-3399)Gta>Tta		zinc finger, DBF-type containing 2							58	54	55					2																	207172649		1857	4086	5943	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172649G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3397G>T	2.37:g.207172649G>T	ENSP00000363545:p.Val1133Leu						p.V1133L	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3783	+			1133					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3397G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706449	0.15239	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.25	-0.683	0.11335	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.19257	-1.0311	9	0.16896	T	0.51	.	4.1078	0.10045	0.416:0.1852:0.3989:0.0	.	1133	Q9HCK1	ZDBF2_HUMAN	L	1133	ENSP00000363545:V1133L	ENSP00000363545:V1133L	V	+	1	0	ZDBF2	206880894	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.149000	0.11215	0.650000	0.86243	GTA		0.338	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		28	144	1	0	4.7796e-09	1	5.01584e-09	28	144					T	207172649	G	T	207172649	3	4	79	1	0	0	0	0	1	0	0	0	17652	1029	36	3	3407	3	ZDBF2	2	207172649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	207172649	36026724	3383	13700											
ZDBF2	57683	broad.mit.edu	37	chr2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcagtcaatagtcaatcGacctcaaataactattttgg	8	8	4	0	rs529263608	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1174							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373													G|||	3	0.000599042	0.0	0.0	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0031					ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3520-3522)cGa>cAa		zinc finger, DBF-type containing 2							104	101	102					2																	207172773		1888	4106	5994	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172773G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3521G>A	2.37:g.207172773G>A	ENSP00000363545:p.Arg1174Gln						p.R1174Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3907	+			1174					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3521G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258166	0.10239	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.1	0.625	0.17665	.	.	.	.	.	T	0.13628	0.0330	N	0.02247	-0.625	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.28299	-1.0048	9	0.11794	T	0.64	.	3.4928	0.07644	0.4411:0.3476:0.2114:0.0	.	1174	Q9HCK1	ZDBF2_HUMAN	Q	1174	ENSP00000363545:R1174Q	ENSP00000363545:R1174Q	R	+	2	0	ZDBF2	206881018	0.102000	0.21896	0.081000	0.20488	0.046000	0.14306	0.242000	0.18087	0.089000	0.17243	0.650000	0.86243	CGA		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		69	320	0	0	0	1	0	69	320					A	207172773	G	A	207172773	3	1	79	1	0	0	0	0	1	0	0	0	17652	1058	37	1	3531	1	ZDBF2	2	207172773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	207172773	36026600	3384	13701											
ZDBF2	57683	broad.mit.edu	37	chr2	207175371	207175371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgggataatgatattcGgtttatatgcaaatataaac	8	3	0	1	rs572938202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	ENST00000374423.3	+	5	6505	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2040							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGATATTCGGTTTATATGC	0.353																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6118-6120)cGg>cAg		zinc finger, DBF-type containing 2							25	24	24					2																	207175371		1824	4075	5899	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175371G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6119G>A	2.37:g.207175371G>A	ENSP00000363545:p.Arg2040Gln						p.R2040Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6505	+			2040					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6119G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063834	0.08388	.	.	ENSG00000204186	ENST00000374423	T	0.41065	1.01	5.79	-10.1	0.00402	.	.	.	.	.	T	0.12646	0.0307	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.11485	T	0.65	.	5.8344	0.18599	0.2615:0.1874:0.4593:0.0918	.	2040	Q9HCK1	ZDBF2_HUMAN	Q	2040	ENSP00000363545:R2040Q	ENSP00000363545:R2040Q	R	+	2	0	ZDBF2	206883616	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.302000	0.02746	-2.191000	0.00756	-1.155000	0.01812	CGG		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	76	0	0	0	1	0	12	76					A	207175371	G	A	207175371	3	1	79	1	0	0	0	0	1	0	0	0	17652	1116	39	1	6129	1	ZDBF2	2	207175371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2598	207175371	36024002	3385	13702											
ADAM23	8745	broad.mit.edu	37	chr2	207424741	207424741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagacctggactgagaaGgatcagattgacatcaccac	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374415.3_Silent_p.K356K|ADAM23_ENST00000374416.1_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1066-1068)aaG>aaA		ADAM metallopeptidase domain 23							127	107	114					2																	207424741		2203	4300	6503	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207424741G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	2.37:g.207424741G>A						ADAM23_ENST00000374415.3_Silent_p.K356K|ADAM23_ENST00000374416.1_Silent_p.K356K	p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	11	1396	+			356			Peptidase M12B.		A2RU59	Silent	SNP	ENST00000264377.3	37	c.1068G>A	CCDS2369.1																																																																																				0.507	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		45	202	0	0	0	1	0	45	202					A	207424741	G	A	207424741	2	1	79	1	0	0	0	0	0	0	0	1	245	991	35	2		2	ADAM23	2	207424741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249370	207424741	35774632	3386	13703											
MDH1B	130752	broad.mit.edu	37	chr2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttaggaactcaagacTctgtggcttttcaaaggtgg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000374412.3	-	11	1785	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G|MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	504					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AACTCAAGACTCTGTGGCTTT	0.348																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(1510-1512)Agt>Ggt		malate dehydrogenase 1B, NAD (soluble)							105	103	104					2																	207604335		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207604335T>C		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1510A>G	2.37:g.207604335T>C	ENSP00000363533:p.Ser504Gly					MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G|MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G	p.S504G	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	11	1785	-			504					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1510A>G	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965573	0.34659	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34275	1.4;1.37;1.39	3.73	-0.204	0.13200	.	0.471361	0.15781	U	0.244910	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.14504	-1.0470	10	0.87932	D	0	.	6.2416	0.20793	0.0:0.3261:0.0:0.6739	.	503;504	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	504;406;503	ENSP00000363533:S504G;ENSP00000416577:S406G;ENSP00000389916:S503G	ENSP00000363533:S504G	S	-	1	0	MDH1B	207312580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.117000	0.11872	-0.509000	0.04479	AGT		0.348	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		29	186	0	0	0	1	0	29	186					C	207604335	T	C	207604335	3	2	79	1	0	0	0	0	1	0	0	0	9450	1551	54	4	54	4	MDH1B	2	207604335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179594	207604335	35595038	3387	13704											
MDH1B	130752	broad.mit.edu	37	chr2	207620181	207620181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcatcccaaacacttcGccactcgtcaatatgggaat	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000374412.3	-	5	737	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	154					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACACTTCGCCACTCGTCA	0.443																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(460-462)ggC>ggT		malate dehydrogenase 1B, NAD (soluble)							82	75	77					2																	207620181		2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620181G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.462C>T	2.37:g.207620181G>A						MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000392214.2_Intron	p.G154G	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	737	-			154					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.462C>T	CCDS33365.1																																																																																				0.443	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		43	286	0	0	0	1	0	43	286					A	207620181	G	A	207620181	2	1	79	1	0	0	0	0	0	0	0	1	9450	1074	38	1		1	MDH1B	2	207620181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15846	207620181	35579192	3388	13705											
FASTKD2	22868	broad.mit.edu	37	chr2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaacaaagggcataaGcactctaacagcccttagaa	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	96					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGGCATAAGCACTCTAACA	0.338																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(286-288)aGc>aTc		FAST kinase domains 2							47	48	48					2																	207631704		2202	4300	6502	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631704G>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.287G>T	2.37:g.207631704G>T	ENSP00000236980:p.Ser96Ile					FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I	p.S96I	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	635	+			96					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.287G>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157315	0.21454	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.50548	2.38;0.74;2.38;2.38	4.92	1.03	0.20045	.	1.697270	0.02974	N	0.144720	T	0.34687	0.0906	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.20306	-1.0279	10	0.49607	T	0.09	0.102	0.461	0.00516	0.2458:0.1419:0.3209:0.2914	.	96;96	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	96	ENSP00000236980:S96I;ENSP00000409927:S96I;ENSP00000385990:S96I;ENSP00000384929:S96I	ENSP00000236980:S96I	S	+	2	0	FASTKD2	207339949	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.093000	0.15086	0.012000	0.14892	0.561000	0.74099	AGC		0.338	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		22	140	1	0	2.37509e-13	1	2.56396e-13	22	140					T	207631704	G	T	207631704	3	4	79	1	0	0	0	0	1	0	0	0	5711	971	34	3	289	3	FASTKD2	2	207631704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11523	207631704	35567669	3389	13706											
FASTKD2	22868	broad.mit.edu	37	chr2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaaagactactttatgCtaaaagactgttttttgact	6	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	109					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTACTTTATGCTAAAAGACTG	0.343																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(325-327)gCt>gTt		FAST kinase domains 2							41	43	43					2																	207631743		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631743C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.326C>T	2.37:g.207631743C>T	ENSP00000236980:p.Ala109Val					FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V	p.A109V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	674	+			109					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.326C>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251448	0.22880	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.48201	2.44;0.82;2.44;2.44	5.07	5.07	0.68467	.	0.870625	0.09920	N	0.738585	T	0.40767	0.1130	L	0.36672	1.1	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.22941	-1.0202	10	0.66056	D	0.02	-5.462	10.885	0.46962	0.0:0.913:0.0:0.087	.	109;109	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	109	ENSP00000236980:A109V;ENSP00000409927:A109V;ENSP00000385990:A109V;ENSP00000384929:A109V	ENSP00000236980:A109V	A	+	2	0	FASTKD2	207339988	0.020000	0.18652	0.626000	0.29213	0.007000	0.05969	0.415000	0.21181	2.639000	0.89480	0.561000	0.74099	GCT		0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		16	168	0	0	0	1	0	16	168					T	207631743	C	T	207631743	3	4	79	1	0	0	0	0	1	0	0	0	5711	797	28	2	328	2	FASTKD2	2	207631743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	207631743	35567630	3390	13707											
FASTKD2	22868	broad.mit.edu	37	chr2	207636969	207636969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgcaaagacctccaGtaccataatttggatctctt	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207636969G>A	ENST00000236980.6	+	6	1527	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	FASTKD2_ENST00000403094.3_Silent_p.Q393Q|FASTKD2_ENST00000402774.3_Silent_p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	393					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGACCTCCAGTACCATAATT	0.343																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1177-1179)caG>caA		FAST kinase domains 2							92	92	92					2																	207636969		2203	4300	6503	SO:0001819	synonymous_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207636969G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1179G>A	2.37:g.207636969G>A						FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	6	1527	+			393					Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	c.1179G>A	CCDS2371.1																																																																																				0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		9	307	0	0	0	1	0	9	307					A	207636969	G	A	207636969	2	1	79	1	0	0	0	0	0	0	0	1	5711	1020	36	2		2	FASTKD2	2	207636969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5226	207636969	35562404	3391	13708											
FASTKD2	22868	broad.mit.edu	37	chr2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccttgctatgaaaatgCggcatttgaatgcaatgggt	11	6	0	2	rs186489901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0					ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1978-1980)Cgg>Tgg		FAST kinase domains 2		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	165	166	166		1978,1978,1978	5	1	2		166	0,8600		0,0,4300	no	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	660/711,660/711,660/711	207655375	1,13005	2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207655375C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1978C>T	2.37:g.207655375C>T	ENSP00000236980:p.Arg660Trp					FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	11	2326	+			660			RAP.		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1978C>T	CCDS2371.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.255743	0.80135	2.27E-4	0.0	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.54866	0.55;0.55;0.55	5.96	5.04	0.67666	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.83118	2.625	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	-5.9807	11.5783	0.50877	0.2574:0.7426:0.0:0.0	.	660	Q9NYY8	FAKD2_HUMAN	W	660	ENSP00000236980:R660W;ENSP00000385990:R660W;ENSP00000384929:R660W	ENSP00000236980:R660W	R	+	1	2	FASTKD2	207363620	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	0.806000	0.27126	2.832000	0.97577	0.655000	0.94253	CGG		0.368	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		85	628	0	0	0	1	0	85	628					T	207655375	C	T	207655375	3	4	79	1	0	0	0	0	1	0	0	0	5711	759	27	1	2016	1	FASTKD2	2	207655375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18406	207655375	35543998	3392	13709											
CPO	130749	broad.mit.edu	37	chr2	207823081	207823081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggactgtggaattcaCgccagagaatggattgctcc	13	8	1	1	rs375384008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGGAATTCACGCCAGAGAAT	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0					ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(322-324)caC>caT		carboxypeptidase O		C		0,4406		0,0,2203	215	203	207		324	-2	1	2		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPO	NM_173077.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		108/375	207823081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207823081C>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.324C>T	2.37:g.207823081C>T							p.H108H	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	4	370	+			108					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.324C>T	CCDS2372.1																																																																																				0.408	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		40	982	0	0	0	1	0	40	982					T	207823081	C	T	207823081	2	4	79	1	0	0	0	0	0	0	0	1	3829	535	19	1		1	CPO	2	207823081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167706	207823081	35376292	3393	13710											
CPO	130749	broad.mit.edu	37	chr2	207824388	207824388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagacaactcaagtataCgcaagctccttaggaacctg	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824388C>T	ENST00000272852.3	+	5	452	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCAAGTATACGCAAGCTCCT	0.348																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(406-408)Cgc>Tgc		carboxypeptidase O							129	126	127					2																	207824388		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207824388C>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.406C>T	2.37:g.207824388C>T	ENSP00000272852:p.Arg136Cys						p.R136C	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	5	452	+			136					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.406C>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996849	0.19043	.	.	ENSG00000144410	ENST00000272852	T	0.11712	2.75	5.03	-0.188	0.13264	Peptidase M14, carboxypeptidase A (2);	0.831951	0.11639	N	0.544001	T	0.18467	0.0443	M	0.85542	2.76	0.09310	N	1	D	0.61697	0.99	P	0.47376	0.545	T	0.11891	-1.0569	10	0.66056	D	0.02	.	4.8295	0.13432	0.4353:0.3095:0.2552:0.0	.	136	Q8IVL8	CBPO_HUMAN	C	136	ENSP00000272852:R136C	ENSP00000272852:R136C	R	+	1	0	CPO	207532633	0.000000	0.05858	0.004000	0.12327	0.035000	0.12851	0.373000	0.20484	-0.165000	0.10908	-0.397000	0.06425	CGC		0.348	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		34	279	0	0	0	1	0	34	279					T	207824388	C	T	207824388	3	4	79	1	0	0	0	0	1	0	0	0	3829	536	19	1	424	1	CPO	2	207824388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1307	207824388	35374985	3394	13711											
CPO	130749	broad.mit.edu	37	chr2	207824432	207824432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtccttccagttctTaacatagatggttatatcta	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	150						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTCCAGTTCTTAACATAGATG	0.373																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(448-450)ctT>ctC		carboxypeptidase O							118	111	113					2																	207824432		2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207824432T>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.450T>C	2.37:g.207824432T>C							p.L150L	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	5	496	+			150					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.450T>C	CCDS2372.1																																																																																				0.373	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		7	271	0	0	0	1	0	7	271					C	207824432	T	C	207824432	2	2	79	1	0	0	0	0	0	0	0	1	3829	1741	61	4		4	CPO	2	207824432	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	207824432	35374941	3395	13712											
CCNYL1	151195	broad.mit.edu	37	chr2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcaaacccttctgaccatCcaagggcaagcacaattttc	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S|CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(253-255)Cca>Tca		cyclin Y-like 1							83	75	77					2																	208589556		2203	4300	6503	SO:0001583	missense	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208589556C>T	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.253C>T	2.37:g.208589556C>T	ENSP00000295414:p.Pro85Ser					CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S|CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S	p.P85S			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	2	464	+			85					Q6NX60	Missense_Mutation	SNP	ENST00000295414.3	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	CCNYL1	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA		0.368	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		25	115	0	0	0	1	0	25	115					T	208589556	C	T	208589556	3	4	79	1	0	0	0	0	1	0	0	0	2946	855	30	2	259	2	CCNYL1	2	208589556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	765124	208589556	34609817	3396	13713											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725853	208725853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaatatcctcaaaaGggtagaggatctctccattg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208725853G>T	ENST00000427836.2	-	7	2573	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	695					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTCAAAAGGGTAGAGGAT	0.398																																						ENST00000427836.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2083-2085)cCt>cAt		pleckstrin homology domain containing, family M, member 3							138	130	132					2																	208725853		1886	4106	5992	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208725853G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2084C>A	2.37:g.208725853G>T	ENSP00000417003:p.Pro695His					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN			7	2573	-			695					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.2084C>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549105	0.86127	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.87412	-2.23;-2.25	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95942	0.8947	10	0.87932	D	0	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	695	Q6ZWE6	PKHM3_HUMAN	H	695	ENSP00000417003:P695H;ENSP00000373899:P695H	ENSP00000373899:P695H	P	-	2	0	PLEKHM3	208434098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.597000	0.98273	2.763000	0.94921	0.655000	0.94253	CCT		0.398	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		11	621	1	0	9.31168e-06	1	9.55451e-06	11	621					T	208725853	G	T	208725853	3	4	79	1	0	0	0	0	1	0	0	0	12124	1000	35	3	209	3	PLEKHM3	2	208725853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136297	208725853	34473520	3397	13714											
PLEKHM3	389072	broad.mit.edu	37	chr2	208811193	208811193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacccactgtagttgcaCaccttggctttcccattgga	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000427836.2	-	4	2079	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000457206.1_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	530					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1588-1590)gtG>gtA		pleckstrin homology domain containing, family M, member 3							152	152	152					2																	208811193		1969	4168	6137	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208811193C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1590G>A	2.37:g.208811193C>T						PLEKHM3_ENST00000427836.2_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	p.V530V			Q6ZWE6	PKHM3_HUMAN			4	2017	-			530					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1590G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269919	0.23221	.	.	ENSG00000178385	ENST00000447645	D	0.83992	-1.79	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90716	0.4631	7	0.66056	D	0.02	.	16.2164	0.82224	0.0:0.7491:0.2509:0.0	.	.	.	.	M	282	ENSP00000395354:V282M	ENSP00000395354:V282M	V	-	1	0	PLEKHM3	208519438	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.857000	0.27831	1.528000	0.49103	0.563000	0.77884	GTG		0.453	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		156	500	0	0	0	1	0	156	500					T	208811193	C	T	208811193	2	4	79	1	0	0	0	0	0	0	0	1	12124	465	17	2		2	PLEKHM3	2	208811193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85340	208811193	34388180	3398	13715											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841720	208841720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacgttgtagctcaacagtgGatcctcgtctagcttgccag	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208841720G>T	ENST00000427836.2	-	3	1690	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	401	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCAACAGTGGATCCTCGTCT	0.507																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1201-1203)Cca>Aca		pleckstrin homology domain containing, family M, member 3							59	62	61					2																	208841720		2036	4190	6226	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841720G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1201C>A	2.37:g.208841720G>T	ENSP00000417003:p.Pro401Thr					PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	p.P401T			Q6ZWE6	PKHM3_HUMAN			3	1628	-			401			PH 2.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1201C>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370651|3.370651	0.61624|0.61624	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.15834|.	2.39;2.39;2.39|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.63075|0.63075	-0.6718|-0.6718	10|5	0.59425|.	D|.	0.04|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	401;401|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	T|Y	401|152	ENSP00000417003:P401T;ENSP00000373899:P401T;ENSP00000400150:P401T|.	ENSP00000373899:P401T|.	P|S	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549965|208549965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.347000|0.347000	0.29111|0.29111	7.103000|7.103000	0.77014|0.77014	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.507	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		8	244	1	0	5.18039e-06	1	5.32547e-06	8	244					T	208841720	G	T	208841720	3	4	79	1	0	0	0	0	1	0	0	0	12124	1174	41	3	1108	3	PLEKHM3	2	208841720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30527	208841720	34357653	3399	13716											
CRYGD	1421	broad.mit.edu	37	chr2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcattgaagcggaagCggtcctgaagacaggagcag	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	115	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(343-345)cGc>cAc		crystallin, gamma D							123	117	119					2																	208986578		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986578C>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.344G>A	2.37:g.208986578C>T	ENSP00000264376:p.Arg115His						p.R115H	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	371	-			115			Beta/gamma crystallin 'Greek key' 3.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.344G>A	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528104	0.44969	.	.	ENSG00000118231	ENST00000264376	T	0.75704	-0.96	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.065041	0.64402	D	0.000007	T	0.70029	0.3177	M	0.78223	2.4	0.40858	D	0.983814	B	0.16396	0.017	B	0.17433	0.018	T	0.66221	-0.5978	10	0.40728	T	0.16	.	5.9174	0.19063	0.0:0.7564:0.0:0.2436	.	115	P07320	CRGD_HUMAN	H	115	ENSP00000264376:R115H	ENSP00000264376:R115H	R	-	2	0	CRYGD	208694823	0.093000	0.21703	1.000000	0.80357	0.990000	0.78478	0.550000	0.23345	0.947000	0.37659	0.555000	0.69702	CGC		0.562	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		108	492	0	0	0	1	0	108	492					T	208986578	C	T	208986578	3	4	79	1	0	0	0	0	1	0	0	0	3926	768	27	1	184	1	CRYGD	2	208986578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144858	208986578	34212795	3400	13717											
CRYGC	1420	broad.mit.edu	37	chr2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcggggtactcccctcGccgcagcaagtattgttgac	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	60	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(178-180)Cga>Tga		crystallin, gamma C							69	74	72					2																	208994239		2203	4300	6503	SO:0001587	stop_gained	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994239G>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.178C>T	2.37:g.208994239G>A	ENSP00000282141:p.Arg60*						p.R60*	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	215	-			60			Beta/gamma crystallin 'Greek key' 2.		Q53R50	Nonsense_Mutation	SNP	ENST00000282141.3	37	c.178C>T	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067463	0.55539	.	.	ENSG00000163254	ENST00000282141	.	.	.	4.98	1.9	0.25705	.	0.230620	0.30575	N	0.009330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9314	0.63998	0.0:0.0:0.5404:0.4596	.	.	.	.	X	60	.	ENSP00000282141:R60X	R	-	1	2	CRYGC	208702484	0.000000	0.05858	0.987000	0.45799	0.293000	0.27360	0.281000	0.18810	0.211000	0.20683	-2.048000	0.00412	CGA		0.567	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		194	506	0	0	0	1	0	194	506					A	208994239	G	A	208994239	4	1	79	1	0	0	0	0	0	1	0	0	3925	1095	38	1	354	1	CRYGC	2	208994239	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7661	208994239	34205134	3401	13718											
CRYGB	1419	broad.mit.edu	37	chr2	209010739	209010739	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcctcgtagaaggtgAtctgaaaaatggaagatgtg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	4	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.e2-1		crystallin, gamma B							98	88	91					2																	209010739		2203	4300	6503	SO:0001630	splice_region_variant	1419				visual perception		structural constituent of eye lens	g.chr2:209010739A>G		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.10-1T>C	2.37:g.209010739A>G							p.I4_splice	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	58	-			4			Beta/gamma crystallin 'Greek key' 1.		Q17RB5|Q53ST2	Splice_Site	SNP	ENST00000260988.4	37	c.9_splice	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985896	0.74589	.	.	ENSG00000182187	ENST00000260988	D	0.82255	-1.59	4.62	4.62	0.57501	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96008	0.8999	10	0.87932	D	0	.	12.2776	0.54744	1.0:0.0:0.0:0.0	.	4	P07316	CRGB_HUMAN	T	4	ENSP00000260988:I4T	ENSP00000260988:I4T	I	-	2	0	CRYGB	208718984	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.107000	0.94261	2.065000	0.61736	0.459000	0.35465	ATC		0.562	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	Missense_Mutation	109	320	0	0	0	1	0	109	320					G	209010739	A	G	209010739	5	3	79	1	0	0	0	0	0	0	1	0	3924	347	12	4	524	4	CRYGB	2	209010739	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16500	209010739	34188634	3402	13719											
IDH1	3417	broad.mit.edu	37	chr2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggtcgttggtggcatcacGattctctatgcctaaatcat	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	49					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(145-147)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							146	119	128					2																	209113362		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113362G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.145C>T	2.37:g.209113362G>A	ENSP00000390265:p.Arg49Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	p.R49C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	526	-			49					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.145C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759019	0.69763	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.4	4.51	0.55191	Isopropylmalate dehydrogenase-like domain (2);	0.047279	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99347	4.525	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.82853	-0.0252	10	0.87932	D	0	-30.6508	15.4143	0.74952	0.0:0.0:0.8597:0.1403	.	49	O75874	IDHC_HUMAN	C	49	ENSP00000260985:R49C;ENSP00000410513:R49C;ENSP00000390265:R49C;ENSP00000391075:R49C;ENSP00000409045:R49C;ENSP00000396787:R49C	ENSP00000260985:R49C	R	-	1	0	IDH1	208821607	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.406000	0.73276	1.246000	0.43901	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			99	278	0	0	0	1	0	99	278					A	209113362	G	A	209113362	3	1	79	1	0	0	0	0	1	0	0	0	7524	1058	37	1	1127	1	IDH1	2	209113362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102623	209113362	34086011	3403	13720											
PIKFYVE	200576	broad.mit.edu	37	chr2	209180055	209180055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacctgatgtcaagaaccaGgatgatgacatggatatccg	11	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209180055G>T	ENST00000264380.4	+	15	2123	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	655					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)			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						TCAAGAACCAGGATGATGACA	0.448																																						ENST00000264380.4																			0				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						c.(1963-1965)caG>caT		phosphoinositide kinase, FYVE finger containing							129	102	111					2																	209180055		2203	4300	6503	SO:0001583	missense	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.chr2:209180055G>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.1965G>T	2.37:g.209180055G>T	ENSP00000264380:p.Gln655His						p.Q655H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			15	2123	+			655					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1965G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397805	0.42512	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.13901	2.55;2.55	5.85	4.0	0.46444	.	0.217092	0.37623	N	0.002001	T	0.10809	0.0264	L	0.27053	0.805	0.80722	D	1	B;B	0.30793	0.196;0.295	B;B	0.38156	0.183;0.266	T	0.15150	-1.0447	10	0.45353	T	0.12	-5.7273	5.2577	0.15555	0.1663:0.0:0.6435:0.1902	.	655;599	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	655;231;599	ENSP00000264380:Q655H;ENSP00000405736:Q599H	ENSP00000264380:Q655H	Q	+	3	2	PIKFYVE	208888300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	1.403000	0.46800	0.585000	0.79938	CAG		0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		9	276	1	0	1.76689e-08	1	1.84553e-08	9	276					T	209180055	G	T	209180055	3	4	79	1	0	0	0	0	1	0	0	0	11966	991	35	3	2030	3	PIKFYVE	2	209180055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66693	209180055	34019318	3404	13721											
MAP2	4133	broad.mit.edu	37	chr2	210559440	210559440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcgtactggcttgccccCggtaactgatgaaaaccatg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559440C>T	ENST00000360351.4	+	7	3052	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	849					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P849R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCTTGCCCCCGGTAACTGAT	0.493																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			1	Substitution - Missense(1)	p.P849R(1)	endometrium(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2545-2547)cCg>cTg		microtubule-associated protein 2	Estramustine(DB01196)						91	90	90					2																	210559440		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559440C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2546C>T	2.37:g.210559440C>T	ENSP00000353508:p.Pro849Leu					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.P849L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3052	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	849					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2546C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823059	0.16678	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	5.8	5.8	0.92144	MAP2/Tau projection (1);	0.331465	0.26293	N	0.025204	T	0.24890	0.0604	L	0.47716	1.5	0.21020	N	0.99981	P;P	0.36535	0.501;0.557	B;B	0.28784	0.057;0.094	T	0.22173	-1.0224	10	0.25751	T	0.34	-4.4034	14.2421	0.65963	0.0:0.9289:0.0:0.0711	.	845;849	P11137-3;P11137	.;MAP2_HUMAN	L	849;845	ENSP00000353508:P849L;ENSP00000392164:P845L	ENSP00000353508:P849L	P	+	2	0	MAP2	210267685	0.000000	0.05858	0.876000	0.34364	0.459000	0.32528	1.142000	0.31540	2.752000	0.94435	0.650000	0.86243	CCG		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		10	537	0	0	0	1	0	10	537					T	210559440	C	T	210559440	3	4	79	1	0	0	0	0	1	0	0	0	9276	652	23	1	2560	1	MAP2	2	210559440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379385	210559440	32639933	3405	13722											
MAP2	4133	broad.mit.edu	37	chr2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgattcaaaagaacatgCcaagaaaactgaagaggctg	10	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	977					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGAACATGCCAAGAAAACT	0.393																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2929-2931)gCc>gTc		microtubule-associated protein 2	Estramustine(DB01196)						76	73	74					2																	210559824		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559824C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2930C>T	2.37:g.210559824C>T	ENSP00000353508:p.Ala977Val					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.A977V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3436	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	977					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2930C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440411	0.25900	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.79	3.0	0.34707	MAP2/Tau projection (1);	0.609412	0.15636	N	0.252128	T	0.17365	0.0417	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.22730	-1.0208	10	0.34782	T	0.22	-1.6898	4.7164	0.12898	0.1255:0.6122:0.1215:0.1408	.	973;977	P11137-3;P11137	.;MAP2_HUMAN	V	977;973	ENSP00000353508:A977V;ENSP00000392164:A973V	ENSP00000353508:A977V	A	+	2	0	MAP2	210268069	0.009000	0.17119	0.042000	0.18584	0.780000	0.44128	0.870000	0.28010	0.361000	0.24292	-0.894000	0.02916	GCC		0.393	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		87	371	0	0	0	1	0	87	371					T	210559824	C	T	210559824	3	4	79	1	0	0	0	0	1	0	0	0	9276	739	26	2	2944	2	MAP2	2	210559824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384	210559824	32639549	3406	13723											
RPE	6120	broad.mit.edu	37	chr2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgattaaagacattcGggagaatgggatgaaggtaa	14	3	0	4	rs535548466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000359429.6	+	3	423	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0					ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(325-327)cGg>cAg		ribulose-5-phosphate-3-epimerase							81	82	82					2																	210880820		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210880820G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.326G>A	2.37:g.210880820G>A	ENSP00000352401:p.Arg109Gln					RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q	p.R109Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	3	423	+			109					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.326G>A	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154513	0.57259	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.72120	0.3421	M	0.74881	2.28	0.58432	D	0.999994	B;D;P;B;B	0.55800	0.377;0.973;0.751;0.322;0.259	B;P;B;B;B	0.50352	0.199;0.638;0.179;0.063;0.122	T	0.72497	-0.4275	9	0.39692	T	0.17	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	Q	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83Q	R	+	2	0	RPE	210589065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.282000	0.72639	2.691000	0.91804	0.655000	0.94253	CGG		0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		78	216	0	0	0	1	0	78	216					A	210880820	G	A	210880820	3	1	79	1	0	0	0	0	1	0	0	0	13594	1116	39	1	336	1	RPE	2	210880820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320996	210880820	32318553	3407	13724											
RPE	6120	broad.mit.edu	37	chr2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatatatctaggttcactGgttgaggacccagttcccat	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000359429.6	+	5	582	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000540255.1_Intron|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	162					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453																																						ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(484-486)tGg>tTg		ribulose-5-phosphate-3-epimerase							122	115	118					2																	210882204		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210882204G>T		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.485G>T	2.37:g.210882204G>T	ENSP00000352401:p.Trp162Leu					RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000540255.1_Intron|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L	p.W162L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	5	582	+			162					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.485G>T	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007901	0.35415	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.60160	0.987;0.002;0.001;0.001	P;B;B;B	0.61275	0.886;0.01;0.006;0.003	T	0.51434	-0.8706	9	0.11182	T	0.66	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	132;154;162;162	B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	L	162;112;94;112;112;112;94;94;94;162;94;94;162;154	.	ENSP00000346501:W154L	W	+	2	0	RPE	210590449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.654000	0.90174	0.655000	0.94253	TGG		0.453	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		70	286	1	0	3.89499e-28	1	4.52561e-28	70	286					T	210882204	G	T	210882204	3	4	79	1	0	0	0	0	1	0	0	0	13594	1357	47	3	561	3	RPE	2	210882204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	210882204	32317169	3408	13725											
C2orf67	151050	broad.mit.edu	37	chr2	211018284	211018284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctatcagttgcatcGgaatccaaaccctcttcaac	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211018284G>A	ENST00000281772.9	-	2	1286	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KANSL1L_ENST00000457374.1_Silent_p.S341S|KANSL1L_ENST00000418791.1_Silent_p.S341S|KANSL1L_ENST00000452086.1_Silent_p.S341S|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	341						histone acetyltransferase complex (GO:0000123)											CAGTTGCATCGGAATCCAAAC	0.393																																						ENST00000281772.9																			0											c.(1021-1023)tcC>tcT		KAT8 regulatory NSL complex subunit 1-like							118	110	112					2																	211018284		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211018284G>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1023C>T	2.37:g.211018284G>A						KANSL1L_ENST00000418791.1_Silent_p.S341S|KANSL1L_ENST00000452086.1_Silent_p.S341S|KANSL1L_ENST00000457374.1_Silent_p.S341S	p.S341S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	1286	-			341					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.1023C>T	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.824|5.824	0.336318|0.336318	0.11013|0.11013	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655	.|.	.|.	.|.	5.95|5.95	4.71|4.71	0.59529|0.59529	.|.	.|.	.|.	.|.	.|.	T|.	0.59891|.	0.2227|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56306|.	-0.8001|.	4|.	.|.	.|.	.|.	.|.	9.1527|9.1527	0.36973|0.36973	0.7784:0.0:0.2216:0.0|0.7784:0.0:0.2216:0.0	.|.	.|.	.|.	.|.	L|X	15;60|36	.|.	.|.	P|R	-|-	2|1	0|2	C2orf67|C2orf67	210726529|210726529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.054000|1.054000	0.30455|0.30455	0.965000|0.965000	0.38133|0.38133	-0.253000|-0.253000	0.11424|0.11424	CCG|CGA		0.393	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		132	382	0	0	0	1	0	132	382					A	211018284	G	A	211018284	2	1	79	1	0	0	0	0	0	0	0	1	2193	1103	39	1		1	C2orf67	2	211018284	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136080	211018284	32181089	3409	13726											
ACADL	33	broad.mit.edu	37	chr2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacttccatcctttttaGcatttgtttttattccctgt	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	188					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATCCTTTTTAGCATTTGTTTT	0.303																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(562-564)gCt>gTt		acyl-CoA dehydrogenase, long chain							173	170	171					2																	211074960		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211074960G>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.563C>T	2.37:g.211074960G>A	ENSP00000233710:p.Ala188Val					AC006994.2_ENST00000412065.1_RNA	p.A188V	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	5	790	-		Renal(323;0.202)	188					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.563C>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064141	0.93898	.	.	ENSG00000115361	ENST00000233710	D	0.99814	-6.89	5.33	5.33	0.75918	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.0113	0.92874	0.0:0.0:1.0:0.0	.	188	P28330	ACADL_HUMAN	V	188	ENSP00000233710:A188V	ENSP00000233710:A188V	A	-	2	0	ACADL	210783205	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.176000	0.94839	2.497000	0.84241	0.563000	0.77884	GCT		0.303	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		183	577	0	0	0	1	0	183	577					A	211074960	G	A	211074960	3	1	79	1	0	0	0	0	1	0	0	0	112	971	34	2	757	2	ACADL	2	211074960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56676	211074960	32124413	3410	13727											
LANCL1	10314	broad.mit.edu	37	chr2	211319832	211319832	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatagaaacatgattaccGtgtgatgcaatcttctgcct	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	LANCL1_ENST00000450366.2_Splice_Site_p.R136W|LANCL1_ENST00000431941.2_Splice_Site_p.R136W|LANCL1_ENST00000233714.4_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	136					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.e3+1		LanC lantibiotic synthetase component C-like 1 (bacterial)							90	77	81					2																	211319832		2203	4300	6503	SO:0001630	splice_region_variant	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211319832G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.407+1C>T	2.37:g.211319832G>A						AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Splice_Site_p.R136_splice|LANCL1_ENST00000431941.2_Splice_Site_p.R136_splice|LANCL1_ENST00000441020.3_Splice_Site_p.R136_splice|LANCL1_ENST00000450366.2_Splice_Site_p.R136_splice	p.R136_splice			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	3	748	-			136						Splice_Site	SNP	ENST00000443314.1	37	c.407_splice	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129799	0.37630	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.64	1.57	0.23409	Six-hairpin glycosidase-like (1);	0.098347	0.64402	D	0.000001	T	0.61048	0.2316	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.63915	-0.6529	10	0.87932	D	0	.	9.3467	0.38113	0.0647:0.0:0.4569:0.4783	.	136	O43813	LANC1_HUMAN	W	136	ENSP00000388713:R136W;ENSP00000393323:R136W;ENSP00000393597:R136W;ENSP00000233714:R136W;ENSP00000397646:R136W;ENSP00000396518:R136W	ENSP00000233714:R136W	R	-	1	2	LANCL1	211028077	0.990000	0.36364	0.641000	0.29422	0.121000	0.20230	1.256000	0.32921	0.406000	0.25560	0.650000	0.86243	CGG		0.413	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	Missense_Mutation	89	293	0	0	0	1	0	89	293					A	211319832	G	A	211319832	5	1	79	1	0	0	0	0	0	0	1	0	8651	1159	40	1	821	1	LANCL1	2	211319832	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244872	211319832	31879541	3411	13728											
CPS1	1373	broad.mit.edu	37	chr2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatgatttcaccaagatgGagtatgatgggattttgatc	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	255	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACCAAGATGGAGTATGATGG	0.443																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(763-765)Gag>Aag		carbamoyl-phosphate synthase 1, mitochondrial							206	214	212					2																	211454881		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454881G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.763G>A	2.37:g.211454881G>A	ENSP00000233072:p.Glu255Lys					CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	p.E255K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	959	+			255			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.763G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571917	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.150178	0.64402	D	0.000018	D	0.85796	0.5780	L	0.37897	1.145	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.79225	-0.1891	10	0.38643	T	0.18	-1.1782	20.2885	0.98538	0.0:0.0:1.0:0.0	.	265;255	Q59HF8;P31327	.;CPSM_HUMAN	K	261;263;255;255	ENSP00000402608:E261K;ENSP00000233072:E255K	ENSP00000233072:E255K	E	+	1	0	CPS1	211163126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.500000	0.81588	2.791000	0.96007	0.650000	0.86243	GAG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			308	1041	0	0	0	1	0	308	1041					A	211454881	G	A	211454881	3	1	79	1	0	0	0	0	1	0	0	0	3832	1175	41	2	815	2	CPS1	2	211454881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135049	211454881	31744492	3412	13729											
CPS1	1373	broad.mit.edu	37	chr2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcttggcaggccaTtgatgacaacatgtcccttg	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000451903.2_Missense_Mutation_p.I407N|CPS1_ENST00000430249.2_Missense_Mutation_p.I864N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	858					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGCAGGCCATTGATGACAAC	0.358																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2572-2574)aTt>aAt		carbamoyl-phosphate synthase 1, mitochondrial							154	151	152					2																	211481151		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481151T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2573T>A	2.37:g.211481151T>A	ENSP00000233072:p.Ile858Asn					CPS1_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	p.I858N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2769	+			858					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2573T>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786943	0.49997	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96940	-4.18;-4.18;-4.18	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.354656	0.29900	N	0.010913	D	0.95178	0.8437	M	0.62088	1.915	0.34698	D	0.726462	P;P	0.43477	0.808;0.537	B;B	0.40285	0.325;0.325	D	0.99694	1.1002	10	0.87932	D	0	-3.1683	15.7337	0.77825	0.0:0.0:0.0:1.0	.	868;858	Q59HF8;P31327	.;CPSM_HUMAN	N	864;866;858;407	ENSP00000402608:I864N;ENSP00000233072:I858N;ENSP00000406136:I407N	ENSP00000233072:I858N	I	+	2	0	CPS1	211189396	0.999000	0.42202	0.603000	0.28903	0.669000	0.39330	7.400000	0.79949	2.169000	0.68431	0.533000	0.62120	ATT		0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			86	469	0	0	0	1	0	86	469					A	211481151	T	A	211481151	3	1	79	1	0	0	0	0	1	0	0	0	3832	1493	52	5	2677	5	CPS1	2	211481151	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26270	211481151	31718222	3413	13730											
CPS1	1373	broad.mit.edu	37	chr2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttctcagataagcagatttCaaaatgccttgggctcactg	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	918			S -> P (in CPS1D). {ECO:0000269|PubMed:15617192}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAGCAGATTTCAAAATGCCTT	0.438																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2752-2754)tCa>tAa		carbamoyl-phosphate synthase 1, mitochondrial							83	91	89					2																	211502491		2203	4300	6503	SO:0001587	stop_gained	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211502491C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2753C>A	2.37:g.211502491C>A	ENSP00000233072:p.Ser918*					CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*	p.S918*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	22	2949	+			918		S -> P (in CPS1D).			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	37	c.2753C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	40	8.056447	0.98632	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	.	0.110943	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.9867	14.2331	0.65906	0.0:0.7351:0.2649:0.0	.	.	.	.	X	924;926;918;467	.	ENSP00000233072:S918X	S	+	2	0	CPS1	211210736	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.994000	0.70623	2.708000	0.92522	0.650000	0.86243	TCA		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			83	337	1	0	5.71386e-39	1	6.9007e-39	83	337					A	211502491	C	A	211502491	4	1	79	1	0	0	0	0	0	1	0	0	3832	838	29	3	2861	3	CPS1	2	211502491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21340	211502491	31696882	3414	13731											
CPS1	1373	broad.mit.edu	37	chr2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccacacaaaccatcaGccaaggggccattgaaaagg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000451903.2_Missense_Mutation_p.S765N|CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1216	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAAACCATCAGCCAAGGGGCC	0.408																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(3646-3648)aGc>aAc		carbamoyl-phosphate synthase 1, mitochondrial							66	67	67					2																	211521337		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211521337G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3647G>A	2.37:g.211521337G>A	ENSP00000233072:p.Ser1216Asn					CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	p.S1216N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	30	3843	+			1216			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3647G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380057	0.24944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.63843	1.955	0.58432	D	0.999998	P;P	0.37141	0.584;0.584	B;B	0.39971	0.315;0.315	D	0.93651	0.6973	10	0.02654	T	1	-10.9857	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1226;1216	Q59HF8;P31327	.;CPSM_HUMAN	N	1222;1224;1216;765	ENSP00000402608:S1222N;ENSP00000233072:S1216N;ENSP00000406136:S765N	ENSP00000233072:S1216N	S	+	2	0	CPS1	211229582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	AGC		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			81	228	0	0	0	1	0	81	228					A	211521337	G	A	211521337	3	1	79	1	0	0	0	0	1	0	0	0	3832	971	34	2	3787	2	CPS1	2	211521337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18846	211521337	31678036	3415	13732											
CPS1	1373	broad.mit.edu	37	chr2	211533008	211533008	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgataggcatccaGgtaagtggtttgtggctgtg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000451903.2_Splice_Site_p.Q916Q|CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1367					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TAGGCATCCAGGTAAGTGGTT	0.473																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e34+1		carbamoyl-phosphate synthase 1, mitochondrial							90	81	84					2																	211533008		2203	4299	6502	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211533008G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4101+1G>A	2.37:g.211533008G>A						CPS1_ENST00000430249.2_Splice_Site_p.Q1373_splice|CPS1_ENST00000451903.2_Splice_Site_p.Q916_splice	p.Q1367_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	34	4297	+			1367					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.4101_splice	CCDS2393.1																																																																																				0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Silent	95	248	0	0	0	1	0	95	248					A	211533008	G	A	211533008	5	1	79	1	0	0	0	0	0	0	1	0	3832	1014	35	2	4257	2	CPS1	2	211533008	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11671	211533008	31666365	3416	13733											
ERBB4	2066	broad.mit.edu	37	chr2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaccttcctcatccagctCtcctcgtgggctccgttctg	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					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)			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)	TCATCCAGCTCTCCTCGTGGG	0.527										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(3430-3432)Gag>Tag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							163	151	155					2																	212251629		2203	4300	6503	SO:0001587	stop_gained	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.chr2:212251629C>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.3430G>T	2.37:g.212251629C>A	ENSP00000342235:p.Glu1144*	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*	p.E1144*	NM_005235.2	NP_005226.1	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)	27	3740	-		Renal(323;0.06)|Lung NSC(271;0.197)	1144					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.3430G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	40	8.171377	0.98688	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	.	.	.	X	1144;1128;1134	.	ENSP00000342235:E1144X	E	-	1	0	ERBB4	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG		0.527	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		39	458	1	0	2.26627e-22	1	2.56399e-22	39	458					A	212251629	C	A	212251629	4	1	79	1	0	0	0	0	0	1	0	0	5227	922	32	3	504	3	ERBB4	2	212251629	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	718621	212251629	30947744	3417	13734											
ERBB4	2066	broad.mit.edu	37	chr2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattatttcttaccctatTcgagtcaattcttgctctgg	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1044					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)			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)	CTTACCCTATTCGAGTCAATT	0.343										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(3130-3132)Aat>Gat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							63	60	61					2																	212285171		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285171T>C	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.3130A>G	2.37:g.212285171T>C	ENSP00000342235:p.Asn1044Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D	p.N1044D	NM_005235.2	NP_005226.1	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)	25	3440	-		Renal(323;0.06)|Lung NSC(271;0.197)	1044					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3130A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176860	0.57692	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74737	-0.87;-0.87;-0.87	5.88	5.88	0.94601	.	0.047923	0.85682	D	0.000000	T	0.61098	0.2320	N	0.08118	0	0.58432	D	0.999992	P;B;P;P	0.41848	0.763;0.03;0.763;0.651	B;B;B;B	0.42361	0.385;0.049;0.385;0.214	T	0.66460	-0.5918	10	0.42905	T	0.14	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1034;1034;1044;1044	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1044;1044;1034	ENSP00000342235:N1044D;ENSP00000403204:N1044D;ENSP00000385565:N1034D	ENSP00000342235:N1044D	N	-	1	0	ERBB4	211993416	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.668000	0.83897	2.243000	0.73865	0.533000	0.62120	AAT		0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		36	114	0	0	0	1	0	36	114					C	212285171	T	C	212285171	3	2	79	1	0	0	0	0	1	0	0	0	5227	1783	62	4	812	4	ERBB4	2	212285171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33542	212285171	30914202	3418	13735											
ERBB4	2066	broad.mit.edu	37	chr2	212285274	212285274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcttccaaatcctcttcAtccaagagattctgaaagaa	4	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1009					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)			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)	AATCCTCTTCATCCAAGAGAT	0.428										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(3025-3027)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							96	88	91					2																	212285274		2203	4300	6503	SO:0001819	synonymous_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.chr2:212285274A>G	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.3027T>C	2.37:g.212285274A>G		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.D1009D|ERBB4_ENST00000402597.1_Silent_p.D999D	p.D1009D	NM_005235.2	NP_005226.1	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)	25	3337	-		Renal(323;0.06)|Lung NSC(271;0.197)	1009					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3027T>C	CCDS2394.1																																																																																				0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		59	182	0	0	0	1	0	59	182					G	212285274	A	G	212285274	2	3	79	1	0	0	0	0	0	0	0	1	5227	214	8	4		4	ERBB4	2	212285274	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103	212285274	30914099	3419	13736											
ERBB4	2066	broad.mit.edu	37	chr2	212285328	212285328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgggaagcttcatacgAtcatcaccctaaaagaaaga	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000402597.1_Silent_p.D981D|ERBB4_ENST00000436443.1_Silent_p.D991D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					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)			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)	GCTTCATACGATCATCACCCT	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(2971-2973)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							78	76	76					2																	212285328		2203	4299	6502	SO:0001819	synonymous_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.chr2:212285328A>G	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.2973T>C	2.37:g.212285328A>G		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.D991D|ERBB4_ENST00000402597.1_Silent_p.D981D	p.D991D	NM_005235.2	NP_005226.1	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)	25	3283	-		Renal(323;0.06)|Lung NSC(271;0.197)	991					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.2973T>C	CCDS2394.1																																																																																				0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		72	193	0	0	0	1	0	72	193					G	212285328	A	G	212285328	2	3	79	1	0	0	0	0	0	0	0	1	5227	330	12	4		4	ERBB4	2	212285328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54	212285328	30914045	3420	13737											
ERBB4	2066	broad.mit.edu	37	chr2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccactgggagttaatgGttccaccaactgcaaagcgg	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	697					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)			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)	GGAGTTAATGGTTCCACCAAC	0.458										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(2089-2091)Cca>Tca		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							101	98	99					2																	212488760		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212488760G>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.2089C>T	2.37:g.212488760G>A	ENSP00000342235:p.Pro697Ser	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S	p.P697S	NM_005235.2	NP_005226.1	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)	18	2399	-		Renal(323;0.06)|Lung NSC(271;0.197)	697					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2089C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027476	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76316	-0.99;-0.99;-1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;P;P	0.85130	0.911;0.997;0.863;0.861	D	0.88800	0.3284	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	687;687;697;697	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	697;697;687	ENSP00000342235:P697S;ENSP00000403204:P697S;ENSP00000385565:P687S	ENSP00000342235:P697S	P	-	1	0	ERBB4	212197005	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.837000	0.99465	2.805000	0.96524	0.655000	0.94253	CCA		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		60	277	0	0	0	1	0	60	277					A	212488760	G	A	212488760	3	1	79	1	0	0	0	0	1	0	0	0	5227	1261	44	2	1881	2	ERBB4	2	212488760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203432	212488760	30710613	3421	13738											
ERBB4	2066	broad.mit.edu	37	chr2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttctaacataaacaGcaaatgtcagacccacaatg	4	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	672					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)			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)	AACATAAACAGCAAATGTCAG	0.403										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(2014-2016)gCt>gAt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							102	107	105					2																	212495251		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212495251G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2015C>A	2.37:g.212495251G>T	ENSP00000342235:p.Ala672Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D	p.A672D	NM_005235.2	NP_005226.1	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)	17	2325	-		Renal(323;0.06)|Lung NSC(271;0.197)	672					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2015C>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.021134|5.021134	0.93462|0.93462	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76186|.	-0.99;-1.0;-1.0|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.996;0.529;1.0;1.0|.	D;P;B;D;D|.	0.77004|.	0.989;0.888;0.304;0.989;0.976|.	T|T	0.74642|0.74642	-0.3597|-0.3597	10|5	0.72032|.	D|.	0.01|.	.|.	19.6599|19.6599	0.95861|0.95861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;662;531;672;672|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|M	672;672;662|662	ENSP00000342235:A672D;ENSP00000403204:A672D;ENSP00000385565:A662D|.	ENSP00000342235:A672D|.	A|L	-|-	2|1	0|2	ERBB4|ERBB4	212203496|212203496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.657000|2.657000	0.90304|0.90304	0.585000|0.585000	0.79938|0.79938	GCT|CTG		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		113	367	1	0	9.42799e-54	1	1.17567e-53	113	367					T	212495251	G	T	212495251	3	4	79	1	0	0	0	0	1	0	0	0	5227	971	34	3	1959	3	ERBB4	2	212495251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6491	212495251	30704122	3422	13739											
ERBB4	2066	broad.mit.edu	37	chr2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgggtccccagcaacGgccagtacaggacttatggc	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				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)			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)	CCCCAGCAACGGCCAGTACAG	0.453										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(586-588)Cgt>Tgt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							131	112	118					2																	212615400		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212615400G>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.586C>T	2.37:g.212615400G>A	ENSP00000342235:p.Arg196Cys	TSP Lung(8;0.080)				ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C	p.R196C	NM_005235.2	NP_005226.1	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)	5	896	-		Renal(323;0.06)|Lung NSC(271;0.197)	196			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.586C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206073	0.79127	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.30182	1.54;1.54;1.54	5.58	4.67	0.58626	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.056132	0.64402	D	0.000001	T	0.59729	0.2215	M	0.85945	2.785	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;0.959;1.0;1.0	D;D;P;D;D	0.91635	0.998;0.952;0.737;0.998;0.999	T	0.64093	-0.6488	10	0.51188	T	0.08	.	15.8781	0.79182	0.0:0.0:0.8639:0.136	.	196;196;55;196;196	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	196	ENSP00000342235:R196C;ENSP00000403204:R196C;ENSP00000385565:R196C	ENSP00000342235:R196C	R	-	1	0	ERBB4	212323645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.332000	0.59279	2.625000	0.88918	0.650000	0.86243	CGT		0.453	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		53	249	0	0	0	1	0	53	249					A	212615400	G	A	212615400	3	1	79	1	0	0	0	0	1	0	0	0	5227	1116	39	1	3436	1	ERBB4	2	212615400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120149	212615400	30583973	3423	13740											
IKZF2	22807	broad.mit.edu	37	chr2	213872294	213872294	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctccattgaagaccttgtaGatgtccttcagagagccctt	8	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000434687.1	-	9	1680	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000457361.1_Silent_p.I457I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000374327.4_Silent_p.I312I|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	457					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1369-1371)atC>atA		IKAROS family zinc finger 2 (Helios)							177	174	175					2																	213872294		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872294G>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1371C>A	2.37:g.213872294G>T						IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000434687.1_Silent_p.I457I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000421754.2_Silent_p.I383I	p.I457I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1539	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	457					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.1371C>A	CCDS2395.1																																																																																				0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		230	670	1	0	1.32126e-99	1	1.6992e-99	230	670					T	213872294	G	T	213872294	2	4	79	1	0	0	0	0	0	0	0	1	7645	932	33	3		3	IKZF2	2	213872294	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1256894	213872294	29327079	3424	13741											
IKZF2	22807	broad.mit.edu	37	chr2	213878658	213878658	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaatcttccataggaggtActatacaaaaccatagaaaa	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000434687.1	-	8	1022	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Splice_Site_p.V238A|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	238					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e7-1		IKAROS family zinc finger 2 (Helios)							84	84	84					2																	213878658		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878658A>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.713-1T>C	2.37:g.213878658A>G						IKZF2_ENST00000451136.2_Splice_Site_p.V166_splice|IKZF2_ENST00000434687.1_Splice_Site_p.V238_splice|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Splice_Site_p.V212_splice|IKZF2_ENST00000374327.4_Splice_Site_p.V93_splice|IKZF2_ENST00000342002.2_Splice_Site_p.V244_splice|IKZF2_ENST00000421754.2_Intron	p.V238_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	881	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	238					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	37	c.712_splice	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585743	0.28268	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13307	3.32;3.28;3.32;3.33;3.31;2.6	5.4	5.4	0.78164	.	0.169511	0.40818	N	0.001012	T	0.25005	0.0607	L	0.47716	1.5	0.80722	D	1	D;B;B;B;P	0.61697	0.99;0.0;0.001;0.002;0.877	D;B;B;B;P	0.73380	0.98;0.001;0.003;0.001;0.728	T	0.03852	-1.0998	10	0.02654	T	1	.	14.2769	0.66187	1.0:0.0:0.0:0.0	.	166;93;212;238;16	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	A	238;244;238;212;166;93	ENSP00000410447:V238A;ENSP00000342876:V244A;ENSP00000412869:V238A;ENSP00000363439:V212A;ENSP00000395203:V166A;ENSP00000363447:V93A	ENSP00000342876:V244A	V	-	2	0	IKZF2	213586903	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.779000	0.62375	2.171000	0.68590	0.459000	0.35465	GTA		0.378	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	59	324	0	0	0	1	0	59	324					G	213878658	A	G	213878658	5	3	79	1	0	0	0	0	0	0	1	0	7645	405	14	4	875	4	IKZF2	2	213878658	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6364	213878658	29320715	3425	13742											
IKZF2	22807	broad.mit.edu	37	chr2	213921823	213921823	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctagctttactgaatttGctgtaatttgaaaagaagaa	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213921823G>A	ENST00000434687.1	-	5	449	c.140C>T	c.(139-141)aCa>aTa	p.T47I	IKZF2_ENST00000421754.2_Splice_Site_p.T47I|IKZF2_ENST00000457361.1_Splice_Site_p.T47I|IKZF2_ENST00000413091.3_Splice_Site_p.T47I|IKZF2_ENST00000374319.4_Splice_Site_p.T47I|IKZF2_ENST00000451136.2_Splice_Site_p.T47I|IKZF2_ENST00000342002.2_Splice_Site_p.T53I|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	47					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TACTGAATTTGCTGTAATTTG	0.373																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e4-1		IKAROS family zinc finger 2 (Helios)							58	60	59					2																	213921823		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921823G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.140-1C>T	2.37:g.213921823G>A						IKZF2_ENST00000451136.2_Splice_Site_p.T47_splice|IKZF2_ENST00000434687.1_Splice_Site_p.T47_splice|IKZF2_ENST00000413091.3_Splice_Site_p.T47_splice|IKZF2_ENST00000374319.4_Splice_Site_p.T47_splice|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Splice_Site_p.T53_splice|IKZF2_ENST00000421754.2_Splice_Site_p.T47_splice	p.T47_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	308	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	47					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	37	c.139_splice	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293289	0.40594	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091;ENST00000433134;ENST00000452786	T;T;T;T;T;T;T;T	0.47528	3.19;3.15;3.19;3.2;3.12;3.25;3.18;0.84	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.55097	0.1899	L	0.51422	1.61	0.54753	D	0.999983	P;P;B;P	0.46512	0.835;0.879;0.409;0.846	P;P;B;B	0.47645	0.553;0.494;0.211;0.398	T	0.55425	-0.8143	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	47;47;47;47	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	I	47;53;47;47;47;47;47;53;47	ENSP00000410447:T47I;ENSP00000342876:T53I;ENSP00000412869:T47I;ENSP00000363439:T47I;ENSP00000395203:T47I;ENSP00000399574:T47I;ENSP00000402334:T47I;ENSP00000406783:T53I	ENSP00000342876:T53I	T	-	2	0	IKZF2	213630068	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.268000	0.89876	2.857000	0.98124	0.650000	0.86243	ACA		0.373	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	6	230	0	0	0	1	0	6	230					A	213921823	G	A	213921823	5	1	79	1	0	0	0	0	0	0	1	0	7645	1333	46	2	1460	2	IKZF2	2	213921823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43165	213921823	29277550	3426	13743											
SPAG16	79582	broad.mit.edu	37	chr2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttttagactccatgAacttccagtgagctggtagg	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	352					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				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)		AGACTCCATGAACTTCCAGTG	0.323																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1054-1056)gAa>gCa		sperm associated antigen 16							55	60	58					2																	214354799		2202	4297	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214354799A>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.1055A>C	2.37:g.214354799A>C	ENSP00000332592:p.Glu352Ala					SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	p.E352A	NM_024532.4	NP_078808.3	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)	10	1150	+		Renal(323;0.00461)	352					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1055A>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408981	0.25378	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62941	-0.01;-0.01;-0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207947	0.37095	N	0.002242	T	0.66177	0.2763	M	0.72479	2.2	0.30218	N	0.797086	P;P;B;P	0.51449	0.945;0.631;0.137;0.856	P;B;B;P	0.48454	0.578;0.229;0.115;0.492	T	0.67122	-0.5750	10	0.22706	T	0.39	.	12.7704	0.57417	1.0:0.0:0.0:0.0	.	258;203;292;352	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	352;258;38	ENSP00000332592:E352A;ENSP00000363428:E258A;ENSP00000416600:E38A	ENSP00000332592:E352A	E	+	2	0	SPAG16	214063044	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.663000	0.61532	2.269000	0.75478	0.454000	0.30748	GAA		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		40	192	0	0	0	1	0	40	192					C	214354799	A	C	214354799	3	2	79	1	0	0	0	0	1	0	0	0	15030	246	9	4	1109	4	SPAG16	2	214354799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	432976	214354799	28844574	3427	13744											
BARD1	580	broad.mit.edu	37	chr2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattactgcaagctcactgaGcattttctgttgttctgaag	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	585	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTCACTGAGCATTTTCTGT	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1753-1755)Ctc>Atc		BRCA1 associated RING domain 1							165	165	165					2																	215610503		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215610503G>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1753C>A	2.37:g.215610503G>T	ENSP00000260947:p.Leu585Ile					BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	p.L585I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1887	-		Renal(323;0.0243)	585			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1753C>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418594	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	D;D;D	0.83075	-1.68;-1.68;-1.68	5.2	5.2	0.72013	BRCT (4);	0.000000	0.64402	D	0.000002	D	0.87597	0.6217	L	0.39397	1.21	0.47949	D	0.99955	D;P	0.61697	0.99;0.953	D;D	0.71870	0.975;0.958	D	0.86382	0.1730	10	0.38643	T	0.18	-5.8897	19.0931	0.93235	0.0:0.0:1.0:0.0	.	441;585	E7EUI3;Q99728	.;BARD1_HUMAN	I	585;441;134	ENSP00000260947:L585I;ENSP00000406752:L441I;ENSP00000392245:L134I	ENSP00000260947:L585I	L	-	1	0	BARD1	215318748	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	6.474000	0.73578	2.576000	0.86940	0.561000	0.74099	CTC		0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		141	703	1	0	6.6411e-63	1	8.37479e-63	141	703					T	215610503	G	T	215610503	3	4	79	1	0	0	0	0	1	0	0	0	1313	971	34	3	596	3	BARD1	2	215610503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1255704	215610503	27588870	3428	13745											
BARD1	580	broad.mit.edu	37	chr2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttccagatcttgcagaaGcctttttagccctctcagaa	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	198					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTGCAGAAGCCTTTTTAGC	0.388									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(592-594)gCt>gTt		BRCA1 associated RING domain 1							68	71	70					2																	215646005		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646005G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.593C>T	2.37:g.215646005G>A	ENSP00000260947:p.Ala198Val					BARD1_ENST00000449967.2_Missense_Mutation_p.A54V|BARD1_ENST00000471787.1_5'UTR	p.A198V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	727	-		Renal(323;0.0243)	198					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.593C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081057	0.08533	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.1	5.75	1.71	0.24356	.	0.813362	0.11148	N	0.594411	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.13407	0.009;0.003	T	0.39210	-0.9625	10	0.12766	T	0.61	-3.1363	4.3336	0.11075	0.1329:0.2206:0.5298:0.1167	.	54;198	E7EUI3;Q99728	.;BARD1_HUMAN	V	198;54	ENSP00000260947:A198V;ENSP00000406752:A54V	ENSP00000260947:A198V	A	-	2	0	BARD1	215354250	0.289000	0.24334	0.020000	0.16555	0.033000	0.12548	1.470000	0.35354	0.878000	0.35920	0.650000	0.86243	GCT		0.388	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		60	359	0	0	0	1	0	60	359					A	215646005	G	A	215646005	3	1	79	1	0	0	0	0	1	0	0	0	1313	971	34	2	1772	2	BARD1	2	215646005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35502	215646005	27553368	3429	13746											
ABCA12	26154	broad.mit.edu	37	chr2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaacacagtttcttacctCtccagcaggtatcccaatgc	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2284	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCTTACCTCTCCAGCAGGT	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6850-6852)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 12							110	111	111					2																	215815605		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815605C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6850G>T	2.37:g.215815605C>A	ENSP00000272895:p.Glu2284*					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	p.E2284*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	45	7069	-		Renal(323;0.127)	2284			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.6850G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	47	13.600953	0.99752	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.61	5.61	0.85477	.	0.082820	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	2284;1966	.	ENSP00000272895:E2284X	E	-	1	0	ABCA12	215523850	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.978000	0.76147	2.639000	0.89480	0.555000	0.69702	GAG		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		23	423	1	0	2.39556e-15	1	2.61601e-15	23	423					A	215815605	C	A	215815605	4	1	79	1	0	0	0	0	0	1	0	0	30	922	32	3	973	3	ABCA12	2	215815605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169600	215815605	27383768	3430	13747											
ABCA12	26154	broad.mit.edu	37	chr2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcaaattcagctgcacCactctcaactcttaatctct	3	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2247					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCTGCACCACTCTCAACT	0.378																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6739-6741)Ggt>Agt		ATP-binding cassette, sub-family A (ABC1), member 12							224	220	222					2																	215815716		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815716C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6739G>A	2.37:g.215815716C>T	ENSP00000272895:p.Gly2247Ser					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	p.G2247S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	45	6958	-		Renal(323;0.127)	2247					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6739G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057706	0.76074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.45	5.61	5.61	0.85477	.	0.374382	0.25768	N	0.028440	D	0.92795	0.7709	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	D	0.93225	0.6612	10	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	2247;1929	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2247;1929	ENSP00000272895:G2247S;ENSP00000374312:G1929S	ENSP00000272895:G2247S	G	-	1	0	ABCA12	215523961	1.000000	0.71417	0.909000	0.35828	0.181000	0.23173	7.031000	0.76491	2.639000	0.89480	0.555000	0.69702	GGT		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		133	738	0	0	0	1	0	133	738					T	215815716	C	T	215815716	3	4	79	1	0	0	0	0	1	0	0	0	30	594	21	2	1084	2	ABCA12	2	215815716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	215815716	27383657	3431	13748											
ABCA12	26154	broad.mit.edu	37	chr2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagtacatccaggaaAatgttgcatacctgcaggtt	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2082					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCCAGGAAAATGTTGCATA	0.438																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6244-6246)tTt>tCt		ATP-binding cassette, sub-family A (ABC1), member 12							78	72	74					2																	215820074		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215820074A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6245T>C	2.37:g.215820074A>G	ENSP00000272895:p.Phe2082Ser					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	p.F2082S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	43	6464	-		Renal(323;0.127)	2082					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6245T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718292	0.89205	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	D	0.90896	0.4765	10	0.66056	D	0.02	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	2082;1764	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2082;1764	ENSP00000272895:F2082S;ENSP00000374312:F1764S	ENSP00000272895:F2082S	F	-	2	0	ABCA12	215528319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.285000	0.76669	0.528000	0.53228	TTT		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		92	279	0	0	0	1	0	92	279					G	215820074	A	G	215820074	3	3	79	1	0	0	0	0	1	0	0	0	30	14	1	4	1586	4	ABCA12	2	215820074	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4358	215820074	27379299	3432	13749											
ABCA12	26154	broad.mit.edu	37	chr2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttccatttttccagactgtCtttgtttaaacactgtctgc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGACTGTCTTTGTTTAAA	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5485-5487)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							225	200	208					2																	215838750		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215838750C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5485G>T	2.37:g.215838750C>A	ENSP00000272895:p.Asp1829Tyr					ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	p.D1829Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	36	5704	-		Renal(323;0.127)	1829					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5485G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.51	-1.58	0.08479	.	1.268040	0.05120	N	0.490566	D	0.86188	0.5873	N	0.24115	0.695	0.09310	N	1	P;P	0.45240	0.854;0.744	P;P	0.49999	0.628;0.495	T	0.76833	-0.2813	10	0.66056	D	0.02	.	9.9501	0.41634	0.0:0.5154:0.0:0.4846	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1829;1511	ENSP00000272895:D1829Y;ENSP00000374312:D1511Y	ENSP00000272895:D1829Y	D	-	1	0	ABCA12	215546995	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.124000	0.15728	-0.409000	0.07553	0.557000	0.71058	GAC		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		50	245	1	0	6.08268e-21	1	6.83416e-21	50	245					A	215838750	C	A	215838750	3	1	79	1	0	0	0	0	1	0	0	0	30	913	32	3	2374	3	ABCA12	2	215838750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18676	215838750	27360623	3433	13750											
ABCA12	26154	broad.mit.edu	37	chr2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccctgctccaggaaggCgatgcggtcactcagcactt	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1548	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGGAAGGCGATGCGGTCA	0.512																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4642-4644)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 12							127	115	119					2																	215845305		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215845305C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4642G>A	2.37:g.215845305C>T	ENSP00000272895:p.Ala1548Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	p.A1548T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	31	4861	-		Renal(323;0.127)	1548			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4642G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809464	0.96975	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76060	-0.99;-0.99	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86705	0.1932	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1548;1230	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1548;1230	ENSP00000272895:A1548T;ENSP00000374312:A1230T	ENSP00000272895:A1548T	A	-	1	0	ABCA12	215553550	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GCC		0.512	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		21	311	0	0	0	1	0	21	311					T	215845305	C	T	215845305	3	4	79	1	0	0	0	0	1	0	0	0	30	768	27	1	3237	1	ABCA12	2	215845305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6555	215845305	27354068	3434	13751											
ABCA12	26154	broad.mit.edu	37	chr2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagataacttcctcttcAtgcctcctgacagtgttcca	5	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1483	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTCTTCATGCCTCCTGA	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4447-4449)aTg>aCg		ATP-binding cassette, sub-family A (ABC1), member 12							169	154	159					2																	215847042		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215847042A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4448T>C	2.37:g.215847042A>G	ENSP00000272895:p.Met1483Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	p.M1483T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	30	4667	-		Renal(323;0.127)	1483			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4448T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151331	0.57151	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93811	-3.29;-3.29	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.066415	0.64402	D	0.000004	D	0.96125	0.8737	M	0.79123	2.44	0.80722	D	1	D;B	0.61697	0.99;0.2	P;B	0.61940	0.896;0.142	D	0.96337	0.9248	10	0.62326	D	0.03	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1483;1165	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1483;1165	ENSP00000272895:M1483T;ENSP00000374312:M1165T	ENSP00000272895:M1483T	M	-	2	0	ABCA12	215555287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		90	450	0	0	0	1	0	90	450					G	215847042	A	G	215847042	3	3	79	1	0	0	0	0	1	0	0	0	30	217	8	4	3435	4	ABCA12	2	215847042	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1737	215847042	27352331	3435	13752											
ABCA12	26154	broad.mit.edu	37	chr2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaataagagacacTggttaggaagctgtaaaaca	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1064					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGAGACACTGGTTAGGAAG	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3190-3192)Agt>Cgt		ATP-binding cassette, sub-family A (ABC1), member 12							75	73	74					2																	215862523		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215862523T>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3190A>C	2.37:g.215862523T>G	ENSP00000272895:p.Ser1064Arg					ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	p.S1064R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	23	3409	-		Renal(323;0.127)	1064					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3190A>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054625	0.75960	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.962	D	0.93109	0.6515	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1064;746	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1064;746	ENSP00000272895:S1064R;ENSP00000374312:S746R	ENSP00000272895:S1064R	S	-	1	0	ABCA12	215570768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.371000	0.80710	0.533000	0.62120	AGT		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		57	268	0	0	0	1	0	57	268					G	215862523	T	G	215862523	3	3	79	1	0	0	0	0	1	0	0	0	30	1580	55	4	4721	4	ABCA12	2	215862523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15481	215862523	27336850	3436	13753											
ABCA12	26154	broad.mit.edu	37	chr2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttgtggtgtgttcattCggttgcttctgtacattgcc	10	9	2	0	rs558822558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	714					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2140-2142)cGa>cAa		ATP-binding cassette, sub-family A (ABC1), member 12							169	163	165					2																	215876354		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876354C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2141G>A	2.37:g.215876354C>T	ENSP00000272895:p.Arg714Gln					ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	p.R714Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	17	2360	-		Renal(323;0.127)	714					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2141G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421623	0.11928	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.28	3.43	0.39272	.	0.976699	0.08381	N	0.954575	T	0.78201	0.4246	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.30741	0.293;0.085	B;B	0.26517	0.021;0.07	T	0.64071	-0.6493	10	0.11182	T	0.66	.	7.853	0.29466	0.0:0.7415:0.1669:0.0915	.	714;396	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	714;396	ENSP00000272895:R714Q;ENSP00000374312:R396Q	ENSP00000272895:R714Q	R	-	2	0	ABCA12	215584599	0.058000	0.20735	0.006000	0.13384	0.359000	0.29487	0.249000	0.18216	1.352000	0.45808	0.655000	0.94253	CGA		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		111	579	0	0	0	1	0	111	579					T	215876354	C	T	215876354	3	4	79	1	0	0	0	0	1	0	0	0	30	884	31	1	5794	1	ABCA12	2	215876354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	215876354	27323019	3437	13754											
ABCA12	26154	broad.mit.edu	37	chr2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgtctttgcatttagagtCtgtgtcacagagtagggtct	12	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	79					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTTAGAGTCTGTGTCACAG	0.433																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(235-237)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							194	182	186					2																	215928871		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215928871C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.235G>T	2.37:g.215928871C>A	ENSP00000272895:p.Asp79Tyr						p.D79Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	3	454	-		Renal(323;0.127)	79					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.235G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816495	0.70912	.	.	ENSG00000144452	ENST00000272895	D	0.98512	-4.97	5.65	4.77	0.60923	.	0.596143	0.16633	N	0.205982	D	0.98277	0.9429	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98008	1.0364	10	0.66056	D	0.02	.	11.6926	0.51525	0.0:0.9166:0.0:0.0834	.	79	Q86UK0	ABCAC_HUMAN	Y	79	ENSP00000272895:D79Y	ENSP00000272895:D79Y	D	-	1	0	ABCA12	215637116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	1.372000	0.46190	0.655000	0.94253	GAC		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		87	485	1	0	1.79992e-35	1	2.14945e-35	87	485					A	215928871	C	A	215928871	3	1	79	1	0	0	0	0	1	0	0	0	30	913	32	3	7787	3	ABCA12	2	215928871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52517	215928871	27270502	3438	13755											
ATIC	471	broad.mit.edu	37	chr2	216191624	216191624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggcgtatctcagaTgcccttgagatatggaatga	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216191624T>C	ENST00000236959.9	+	7	937	c.611T>C	c.(610-612)aTg>aCg	p.M204T	ATIC_ENST00000435675.1_Missense_Mutation_p.M203T|ATIC_ENST00000540518.1_Missense_Mutation_p.M145T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	204					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTATCTCAGATGCCCTTGAGA	0.473			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(607-609)aTg>aCg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						172	156	161					2																	216191624		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216191624T>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.611T>C	2.37:g.216191624T>C	ENSP00000236959:p.Met204Thr					ATIC_ENST00000236959.9_Missense_Mutation_p.M204T|ATIC_ENST00000540518.1_Missense_Mutation_p.M145T	p.M203T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	6	999	+		Renal(323;0.229)	204					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.608T>C	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779289	0.49891	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.86	5.86	0.93980	Cytidine deaminase-like (1);	0.250429	0.47852	D	0.000213	T	0.73024	0.3534	L	0.37466	1.105	0.48395	D	0.999647	B;B	0.20671	0.027;0.047	B;B	0.37550	0.142;0.253	T	0.70371	-0.4890	10	0.51188	T	0.08	-9.2562	15.9283	0.79639	0.0:0.0:0.0:1.0	.	203;204	E9PBU3;P31939	.;PUR9_HUMAN	T	204;145;203;145	ENSP00000236959:M204T;ENSP00000440523:M145T;ENSP00000415935:M203T;ENSP00000402393:M145T	ENSP00000236959:M204T	M	+	2	0	ATIC	215899869	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	7.903000	0.87398	2.240000	0.73641	0.533000	0.62120	ATG		0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		13	797	0	0	0	1	0	13	797					C	216191624	T	C	216191624	3	2	79	1	0	0	0	0	1	0	0	0	1106	1464	51	4	637	4	ATIC	2	216191624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262753	216191624	27007749	3439	13756											
ATIC	471	broad.mit.edu	37	chr2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagataaggcaaactaTtggtggcttagacaccatcc	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000236959.9	+	14	1718	c.1392T>G	c.(1390-1392)taT>taG	p.Y464*	ATIC_ENST00000435675.1_Nonsense_Mutation_p.Y463*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	464					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1387-1389)taT>taG		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						179	159	166					2																	216211553		2203	4300	6503	SO:0001587	stop_gained	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211553T>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1392T>G	2.37:g.216211553T>G	ENSP00000236959:p.Tyr464*					ATIC_ENST00000236959.9_Nonsense_Mutation_p.Y464*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*	p.Y463*			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1780	+		Renal(323;0.229)	464					A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	37	c.1389T>G	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.149877|3.149877	0.57151|0.57151	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	-2.44|-2.44	0.06502|0.06502	.|.	.|0.889155	.|0.09970	.|N	.|0.732367	T|.	0.56949|.	0.2020|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65713|.	-0.6101|.	3|.	.|0.46703	.|T	.|0.11	5.5651|5.5651	14.3989|14.3989	0.67029|0.67029	0.0:0.6062:0.0:0.3938|0.0:0.6062:0.0:0.3938	.|.	.|.	.|.	.|.	V|X	158;133|464;405;463	.|.	.|ENSP00000236959:Y464X	L|Y	+|+	1|3	2|2	ATIC|ATIC	215919798|215919798	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.864000|0.864000	0.49448|0.49448	-0.106000|-0.106000	0.10890|0.10890	-0.576000|-0.576000	0.05974|0.05974	-0.280000|-0.280000	0.10049|0.10049	TTG|TAT		0.453	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		182	437	0	0	0	1	0	182	437					G	216211553	T	G	216211553	4	3	79	1	0	0	0	0	0	1	0	0	1106	1500	52	4	1446	4	ATIC	2	216211553	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19929	216211553	26987820	3440	13757											
FN1	2335	broad.mit.edu	37	chr2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatacttgatgatgtagCcggtaatcctggcacgtggc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000359671.1	-	37	6060	c.5795G>A	c.(5794-5796)gGc>gAc	p.G1932D	FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000354785.4_Missense_Mutation_p.G2023D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D			P02751	FINC_HUMAN	fibronectin 1	1932	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GATGATGTAGCCGGTAATCCT	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6067-6069)gGc>gAc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65	68	67					2																	216240026		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216240026C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5795G>A	2.37:g.216240026C>T	ENSP00000352696:p.Gly1932Asp					FN1_ENST00000359671.1_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D	p.G2023D			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	38	6437	-		Renal(323;0.127)	1932	V -> A (in Ref. 4; CAD97965/CAD97964).		Connecting strand 3 (CS-3) (V region).		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6068G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.765785	0.90020	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.80265	0.4591	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82780	-0.0288	10	0.87932	D	0	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	1723;1932;1933;2023;1842;1842;1932;1932;1933;1842;1842;2023;1932	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1842;2023;1932;1842;2023;1933;1932;1932;1932;1932;1932;1842;1933;1842;649;51	ENSP00000394423:G1842D;ENSP00000323534:G2023D;ENSP00000338200:G1932D;ENSP00000350534:G1842D;ENSP00000346839:G2023D;ENSP00000352696:G1932D;ENSP00000265312:G1932D;ENSP00000273049:G1932D;ENSP00000349509:G1932D;ENSP00000410422:G1932D;ENSP00000415018:G1842D;ENSP00000399538:G1933D;ENSP00000348285:G1842D;ENSP00000416139:G649D;ENSP00000392565:G51D	ENSP00000265313:G1933D	G	-	2	0	FN1	215948271	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.040000	0.70980	2.637000	0.89404	0.563000	0.77884	GGC		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		20	382	0	0	0	1	0	20	382					T	216240026	C	T	216240026	3	4	79	1	0	0	0	0	1	0	0	0	5987	739	26	2	1401	2	FN1	2	216240026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28473	216240026	26959347	3441	13758											
FN1	2335	broad.mit.edu	37	chr2	216249593	216249593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctgtacctgtctctccGtaagtgatcctgtaatatct	7	11	2	1	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000359671.1	-	28	4711	c.4446C>T	c.(4444-4446)taC>taT	p.Y1482Y	FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000354785.4_Silent_p.Y1573Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y			P02751	FINC_HUMAN	fibronectin 1	1482	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGTCTCTCCGTAAGTGATCC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		15606	0.0		0.0	False		,,,				2504	0.001					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(4717-4719)taC>taT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	,,,,	0,4406		0,0,2203	67	63	64		4446,4446,4446,4446,4719	0.9	1	2	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	1482/2356,1482/2177,1482/2297,1482/2331,1573/2478	216249593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216249593G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4446C>T	2.37:g.216249593G>A						FN1_ENST00000359671.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y	p.Y1573Y			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	29	5088	-		Renal(323;0.127)	1576			Fibronectin type-III 11.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.4719C>T																																																																																					0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		40	242	0	0	0	1	0	40	242					A	216249593	G	A	216249593	2	1	79	1	0	0	0	0	0	0	0	1	5987	1140	40	1		1	FN1	2	216249593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9567	216249593	26949780	3442	13759											
FN1	2335	broad.mit.edu	37	chr2	216251446	216251446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatcaataagggactttcCtctctgccattaagagcaac	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000359671.1	-	27	4570	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000354785.4_Silent_p.E1526E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E			P02751	FINC_HUMAN	fibronectin 1	1435	Cell-attachment.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGGGACTTTCCTCTCTGCCAT	0.468																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(4576-4578)gaG>gaA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85	78	81					2																	216251446		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216251446C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4305G>A	2.37:g.216251446C>T						FN1_ENST00000359671.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E	p.E1526E			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	28	4947	-		Renal(323;0.127)	1525			Cell-attachment.|Fibronectin type-III 10.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.4578G>A																																																																																					0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		16	244	0	0	0	1	0	16	244					T	216251446	C	T	216251446	2	4	79	1	0	0	0	0	0	0	0	1	5987	680	24	2		2	FN1	2	216251446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	216251446	26947927	3443	13760											
FN1	2335	broad.mit.edu	37	chr2	216257885	216257885	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaggccgatgcttgaatCggttatatcaacaaagctta	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216257885C>T	ENST00000359671.1	-	25	4062				FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000354785.4_Missense_Mutation_p.D1280N|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000336916.4_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGCTTGAATCGGTTATATCA	0.468																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.D1280N(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3838-3840)Gat>Aat		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						80	79	79					2																	216257885		1868	4096	5964	SO:0001627	intron_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216257885C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1348G>A	2.37:g.216257885C>T						FN1_ENST00000359671.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000346544.3_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N	p.D1280N			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	25	4207	-		Renal(323;0.127)	1280			Cell-attachment.|Fibronectin type-III 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3838G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.691151	0.88735	.	.	ENSG00000115414	ENST00000323926;ENST00000354785;ENST00000265313;ENST00000432072	T;T;T	0.57107	0.42;0.42;0.42	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.91635	0.974;0.999;0.992;0.97	T	0.65438	-0.6168	10	0.33141	T	0.24	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1280;1280;1280;1280	P02751-13;P02751-7;E7ERA1;P02751-15	.;.;.;.	N	1280	ENSP00000323534:D1280N;ENSP00000346839:D1280N;ENSP00000399538:D1280N	ENSP00000265313:D1280N	D	-	1	0	FN1	215966130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.384000	0.79751	2.861000	0.98227	0.655000	0.94253	GAT		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		45	287	0	0	0	1	0	45	287					T	216257885	C	T	216257885	1	4	79	0	1	0	0	0	0	0	0	0	5987	884	31	1		1	FN1	2	216257885	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6439	216257885	26941488	3444	13761											
FN1	2335	broad.mit.edu	37	chr2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacacttccactctcCtcggccgttgcctgtgcaga	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000359671.1	-	6	1061	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000354785.4_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTCCACTCTCCTCGGCCGTTG	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(796-798)Gga>Tga		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127	108	114					2																	216292951		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292951C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.796G>T	2.37:g.216292951C>A	ENSP00000352696:p.Gly266*					FN1_ENST00000359671.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*	p.G266*			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1165	-		Renal(323;0.127)	266			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.796G>T		.	.	.	.	.	.	.	.	.	.	C	41	9.094722	0.99064	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000265313:G266X	G	-	1	0	FN1	216001196	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGA		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		78	346	1	0	5.72124e-26	1	6.58255e-26	78	346					A	216292951	C	A	216292951	4	1	79	1	0	0	0	0	0	1	0	0	5987	690	24	3	6834	3	FN1	2	216292951	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35066	216292951	26906422	3445	13762											
XRCC5	7520	broad.mit.edu	37	chr2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatttgaacaagcaaagaAggtgataaccatgtttgtac	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	36					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(106-108)aAg>aGg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							147	145	145					2																	216977824		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977824A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.107A>G	2.37:g.216977824A>G	ENSP00000375978:p.Lys36Arg					XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R	p.K36R			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	4	568	+		Renal(323;0.0328)	36					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.107A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486462	0.26686	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29917	1.55;1.55	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.29353	0.101	T	0.12400	-1.0549	10	0.36615	T	0.2	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	36	P13010	XRCC5_HUMAN	R	36;36;23	ENSP00000375978:K36R;ENSP00000375977:K36R	ENSP00000375977:K36R	K	+	2	0	XRCC5	216686069	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	6.704000	0.74639	2.150000	0.67090	0.533000	0.62120	AAG		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		73	371	0	0	0	1	0	73	371					G	216977824	A	G	216977824	3	3	79	1	0	0	0	0	1	0	0	0	17510	72	3	4	113	4	XRCC5	2	216977824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684873	216977824	26221549	3446	13763											
XRCC5	7520	broad.mit.edu	37	chr2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgcagctgcctttcatgGaagacttgcggcaatacatg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1282-1284)Gaa>Aaa	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							109	105	106					2																	217002842		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217002842G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1282G>A	2.37:g.217002842G>A	ENSP00000375978:p.Glu428Lys					XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K|XRCC5_ENST00000471649.1_3'UTR	p.E428K			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	14	1743	+		Renal(323;0.0328)	428			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1282G>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668745	0.96754	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80696	-0.1267	10	0.72032	D	0.01	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	428	P13010	XRCC5_HUMAN	K	428	ENSP00000375978:E428K;ENSP00000375977:E428K	ENSP00000375977:E428K	E	+	1	0	XRCC5	216711087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.333000	0.96459	2.606000	0.88127	0.655000	0.94253	GAA		0.363	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		50	284	0	0	0	1	0	50	284					A	217002842	G	A	217002842	3	1	79	1	0	0	0	0	1	0	0	0	17510	1175	41	2	1328	2	XRCC5	2	217002842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25018	217002842	26196531	3447	13764											
MARCH4	57574	broad.mit.edu	37	chr2	217234861	217234861	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgaagagcatgcggcaGcggcacttgaggagaccctg	14	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	41						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(121-123)cgC>cgA		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase																																				SO:0001819	synonymous_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234861G>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.123C>A	2.37:g.217234861G>T							p.R41R	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1889	-		Renal(323;0.0854)	41					Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	c.123C>A	CCDS33376.1																																																																																				0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		23	79	1	0	5.26018e-13	1	5.6673e-13	23	79					T	217234861	G	T	217234861	2	4	79	1	0	0	0	0	0	0	0	1	9344	958	34	3		3	MARCH4	2	217234861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232019	217234861	25964512	3448	13765											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgagatcaggttcaCaccctttgctaacccaactc	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	157					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGGTTCACACCCTTTGCT	0.507									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(469-471)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							131	124	126					2																	217279897		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279897C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.470C>T	2.37:g.217279897C>T	ENSP00000349823:p.Thr157Ile					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	800	+		Renal(323;0.0458)	157					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.470C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144706	0.21288	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.87103	1.95;1.95;1.27;-2.21	4.69	1.94	0.25998	.	0.444855	0.22869	N	0.054653	T	0.74574	0.3734	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.52906	T	0.07	.	9.1742	0.37100	0.0:0.7637:0.0:0.2363	.	157	Q9NZC9	SMAL1_HUMAN	I	157;157;56;21	ENSP00000349823:T157I;ENSP00000350940:T157I;ENSP00000392997:T56I;ENSP00000375974:T21I	ENSP00000349823:T157I	T	+	2	0	SMARCAL1	216988142	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.432000	0.21461	0.234000	0.21139	-0.137000	0.14449	ACA		0.507	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			147	433	0	0	0	1	0	147	433					T	217279897	C	T	217279897	3	4	79	1	0	0	0	0	1	0	0	0	14823	478	17	2	472	2	SMARCAL1	2	217279897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45036	217279897	25919476	3449	13766											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285059	217285059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacggtcaacctgcaGcctctggaatgggcctatgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	300	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACCTGCAGCCTCTGGAAT	0.547									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(898-900)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							56	48	51					2																	217285059		2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285059G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.900G>A	2.37:g.217285059G>A						SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1230	+		Renal(323;0.0458)	300			HARP 1.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.900G>A	CCDS2403.1																																																																																				0.547	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			16	193	0	0	0	1	0	16	193					A	217285059	G	A	217285059	2	1	79	1	0	0	0	0	0	0	0	1	14823	962	34	2		2	SMARCAL1	2	217285059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5162	217285059	25914314	3450	13767											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcctctggaatgggCctatggcagcagcgagtcac	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	305					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGGAATGGGCCTATGGCAGC	0.557									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(913-915)gCc>gTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							65	54	58					2																	217285073		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285073C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.914C>T	2.37:g.217285073C>T	ENSP00000349823:p.Ala305Val					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1244	+		Renal(323;0.0458)	305					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.914C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275953	0.23307	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85339	-1.97;-1.97;1.56;-1.97;0.72	4.64	2.32	0.28847	.	0.819538	0.11443	N	0.563539	T	0.74733	0.3755	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55860	-0.8074	10	0.15499	T	0.54	-5.0496	4.8631	0.13594	0.1799:0.6625:0.0:0.1575	.	305	Q9NZC9	SMAL1_HUMAN	V	305;305;204;169;25	ENSP00000349823:A305V;ENSP00000350940:A305V;ENSP00000392997:A204V;ENSP00000375974:A169V;ENSP00000390248:A25V	ENSP00000349823:A305V	A	+	2	0	SMARCAL1	216993318	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	-0.040000	0.12104	0.327000	0.23409	0.561000	0.74099	GCC		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			50	170	0	0	0	1	0	50	170					T	217285073	C	T	217285073	3	4	79	1	0	0	0	0	1	0	0	0	14823	739	26	2	924	2	SMARCAL1	2	217285073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	217285073	25914300	3451	13768											
SMARCAL1	50485	broad.mit.edu	37	chr2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctgcctgccaagcagCgcaagatagtggtgattgcc	12	13	0	2	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCAAGCAGCGCAAGATAGT	0.587									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(1975-1977)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	61	61		1975,1975	5.5	1	2	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	659/955,659/955	217315692	1,13005	2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217315692C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1975C>T	2.37:g.217315692C>T	ENSP00000349823:p.Arg659Cys					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	12	2305	+		Renal(323;0.0458)	659					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1975C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126659	0.94429	2.27E-4	0.0	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92858	-3.12;-3.12;-0.99	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:1.0:0.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	C	659;659;501	ENSP00000349823:R659C;ENSP00000350940:R659C;ENSP00000375974:R501C	ENSP00000349823:R659C	R	+	1	0	SMARCAL1	217023937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.897000	0.69831	2.559000	0.86315	0.650000	0.86243	CGC		0.587	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			88	258	0	0	0	1	0	88	258					T	217315692	C	T	217315692	3	4	79	1	0	0	0	0	1	0	0	0	14823	768	27	1	2013	1	SMARCAL1	2	217315692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30619	217315692	25883681	3452	13769											
SMARCAL1	50485	broad.mit.edu	37	chr2	217341855	217341855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccaggctgaggaccgCgtgcaccgcattggacagac	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	ENST00000357276.4	+	16	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.R817R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	817	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGAGGACCGCGTGCACCGCA	0.567									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2449-2451)cgC>cgT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							93	74	80					2																	217341855		2202	4298	6500	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217341855C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2451C>T	2.37:g.217341855C>T						SMARCAL1_ENST00000358207.5_Silent_p.R817R	p.R817R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	16	2781	+		Renal(323;0.0458)	817			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.2451C>T	CCDS2403.1																																																																																				0.567	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			6	26	0	0	0	1	0	6	26					T	217341855	C	T	217341855	2	4	79	1	0	0	0	0	0	0	0	1	14823	755	27	1		1	SMARCAL1	2	217341855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26163	217341855	25857518	3453	13770											
IGFBP2	3485	broad.mit.edu	37	chr2	217526595	217526595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagactccctgccaacaGgaactggaccaggtcctgga	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000233809.4	+	3	816	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_ENST00000456764.1_Silent_p.Q85Q	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	229	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647																																						ENST00000233809.4																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(685-687)caG>caA		insulin-like growth factor binding protein 2, 36kDa							45	51	49					2																	217526595		2177	4273	6450	SO:0001819	synonymous_variant	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217526595G>A		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"insulin-like growth factor binding protein 2 (36kD)"	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.687G>A	2.37:g.217526595G>A						IGFBP2_ENST00000456764.1_Silent_p.Q85Q	p.Q229Q	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	3	816	+		Renal(323;0.0458)	229			Thyroglobulin type-1.		Q14619|Q9UCL3	Silent	SNP	ENST00000233809.4	37	c.687G>A	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733021	0.48939	.	.	ENSG00000115457	ENST00000436812	.	.	.	4.6	0.0849	0.14439	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64296	-0.6441	5	0.87932	D	0	-4.1961	9.88	0.41227	0.2733:0.0:0.7267:0.0	.	.	.	.	K	52	.	ENSP00000400308:R52K	R	+	2	0	IGFBP2	217234840	1.000000	0.71417	0.846000	0.33378	0.969000	0.65631	5.169000	0.64984	-0.102000	0.12197	0.655000	0.94253	AGG		0.647	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		42	161	0	0	0	1	0	42	161					A	217526595	G	A	217526595	2	1	79	1	0	0	0	0	0	0	0	1	7609	991	35	2		2	IGFBP2	2	217526595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184740	217526595	25672778	3454	13771											
IGFBP5	3488	broad.mit.edu	37	chr2	217543756	217543756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggagtaggtctcctcGgccatctcagaggtggtggg	18	8	2	1	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	128					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(382-384)gcC>gcT		insulin-like growth factor binding protein 5		G		0,4406		0,0,2203	79	72	74		384	-10.1	0.2	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFBP5	NM_000599.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/273	217543756	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543756G>A		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.384C>T	2.37:g.217543756G>A							p.A128A	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1133	-		Renal(323;0.0822)	128					Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.384C>T	CCDS2405.1																																																																																				0.632	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		28	393	0	0	0	1	0	28	393					A	217543756	G	A	217543756	2	1	79	1	0	0	0	0	0	0	0	1	7612	1103	39	1		1	IGFBP5	2	217543756	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17161	217543756	25655617	3455	13772											
IGFBP5	3488	broad.mit.edu	37	chr2	217559274	217559274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcagcgcagcccctgGgcgcagcgctcggtgtagac	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	ENST00000233813.4	-	1	974	c.225C>A	c.(223-225)gcC>gcA	p.A75A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	75	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCCTGGGCGCAGCGCT	0.726																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(223-225)gcC>gcA		insulin-like growth factor binding protein 5							4	5	5					2																	217559274		1873	3748	5621	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217559274G>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.225C>A	2.37:g.217559274G>T						AC007563.5_ENST00000447289.1_RNA	p.A75A	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	974	-		Renal(323;0.0822)	75			IGFBP N-terminal.		Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.225C>A	CCDS2405.1																																																																																				0.726	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		10	37	1	0	2.74318e-10	1	2.90674e-10	10	37					T	217559274	G	T	217559274	2	4	79	1	0	0	0	0	0	0	0	1	7612	1219	43	3		3	IGFBP5	2	217559274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15518	217559274	25640099	3456	13773											
TNS1	7145	broad.mit.edu	37	chr2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggacgtgtggcattaacaGccccggtgctgccgtgcagg	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000171887.4	-	17	1594	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000430930.1_Missense_Mutation_p.A381V|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	381					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCATTAACAGCCCCGGTGCT	0.602																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1141-1143)gCt>gTt		tensin 1							162	155	158					2																	218713723		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713723G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1142C>T	2.37:g.218713723G>A	ENSP00000171887:p.Ala381Val					TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V	p.A381V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1594	-		Renal(207;0.0483)|Lung NSC(271;0.213)	381					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1142C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342895	0.24339	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95949	-2.97;-2.96;-2.97;-3.44;-3.86	5.17	2.34	0.29019	.	0.976044	0.08411	N	0.949829	D	0.93109	0.7806	L	0.54323	1.7	0.21652	N	0.999606	B;B;B;B;B	0.17667	0.002;0.006;0.023;0.003;0.003	B;B;B;B;B	0.18263	0.003;0.011;0.021;0.002;0.002	D	0.85020	0.0911	10	0.62326	D	0.03	.	8.059	0.30623	0.144:0.1316:0.7243:0.0	.	381;435;381;381;381	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	381;381;381;506;449	ENSP00000171887:A381V;ENSP00000408724:A381V;ENSP00000406016:A381V;ENSP00000405460:A506V;ENSP00000400383:A449V	ENSP00000171887:A381V	A	-	2	0	TNS1	218421968	0.942000	0.31987	0.110000	0.21437	0.824000	0.46624	3.924000	0.56476	0.318000	0.23185	0.655000	0.94253	GCT		0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		198	982	0	0	0	1	0	198	982					A	218713723	G	A	218713723	3	1	79	1	0	0	0	0	1	0	0	0	16395	971	34	2	4133	2	TNS1	2	218713723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1154449	218713723	24485650	3457	13774											
TNS1	7145	broad.mit.edu	37	chr2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcccaaagacaacccCcaggtcatggatggcacagg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000171887.4	-	14	1281	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000430930.1_Missense_Mutation_p.G277R|TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGACAACCCCCAGGTCATGG	0.587																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(829-831)Ggg>Agg		tensin 1							131	107	115					2																	218749800		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218749800C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.829G>A	2.37:g.218749800C>T	ENSP00000171887:p.Gly277Arg					TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R	p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	14	1281	-		Renal(207;0.0483)|Lung NSC(271;0.213)	277			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.829G>A	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533073|1.533073	0.27387|0.27387	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.83|4.83	3.96|3.96	0.45880|0.45880	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	D|D	0.83238|0.83238	0.5211|0.5211	N|N	0.16130|0.16130	0.375|0.375	0.43977|0.43977	D|D	0.996663|0.996663	.|P;B;B;D;D;D	.|0.69078	.|0.9;0.036;0.02;0.994;0.991;0.997	.|P;B;B;D;D;D	.|0.69824	.|0.493;0.105;0.038;0.966;0.93;0.955	T|T	0.79356|0.79356	-0.1837|-0.1837	5|9	.|0.17369	.|T	.|0.5	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	.|277;331;308;277;277;277	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	E|R	52|277;277;277;402;345;308	.|ENSP00000171887:G277R;ENSP00000408724:G277R;ENSP00000406016:G277R;ENSP00000405460:G402R;ENSP00000400383:G345R;ENSP00000308321:G308R	.|ENSP00000171887:G277R	G|G	-|-	2|1	0|0	TNS1|TNS1	218458045|218458045	0.467000|0.467000	0.25831|0.25831	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.458000|2.458000	0.45014|0.45014	1.249000|1.249000	0.43950|0.43950	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.587	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		79	308	0	0	0	1	0	79	308					T	218749800	C	T	218749800	3	4	79	1	0	0	0	0	1	0	0	0	16395	623	22	2	4458	2	TNS1	2	218749800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36077	218749800	24449573	3458	13775											
TNS1	7145	broad.mit.edu	37	chr2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttacctggcagaaatgttgCtgtagtgcatgtaagccgcg	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000171887.4	-	9	844	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000430930.1_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAATGTTGCTGTAGTGCAT	0.542																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(391-393)aGc>aTc		tensin 1							106	95	99					2																	218757686		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218757686C>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.392G>T	2.37:g.218757686C>A	ENSP00000171887:p.Ser131Ile					TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I	p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	9	844	-		Renal(207;0.0483)|Lung NSC(271;0.213)	131			Phosphatase tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.392G>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179967	0.78564	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.5	4.5	0.54988	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.994;0.902;1.0;0.998;0.998	D;D;P;D;D;P	0.85130	0.963;0.92;0.696;0.997;0.991;0.878	D	0.99816	1.1044	10	0.87932	D	0	.	17.3447	0.87307	0.0:1.0:0.0:0.0	.	131;185;162;131;131;131	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	131;131;131;256;199;162	ENSP00000171887:S131I;ENSP00000408724:S131I;ENSP00000406016:S131I;ENSP00000405460:S256I;ENSP00000400383:S199I;ENSP00000308321:S162I	ENSP00000171887:S131I	S	-	2	0	TNS1	218465931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.486000	0.83907	0.563000	0.77884	AGC		0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		53	227	1	0	4.6707e-30	1	5.47058e-30	53	227					A	218757686	C	A	218757686	3	1	79	1	0	0	0	0	1	0	0	0	16395	797	28	3	4915	3	TNS1	2	218757686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7886	218757686	24441687	3459	13776											
CXCR2	3579	broad.mit.edu	37	chr2	219000157	219000157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactggcggatgctgttAcggatcctgccccagtcctt	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	ENST00000318507.2	+	3	1060	c.633A>G	c.(631-633)ttA>ttG	p.L211L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	211					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCTGTTACGGATCCTGC	0.537																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(631-633)ttA>ttG		chemokine (C-X-C motif) receptor 2							132	121	125					2																	219000157		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000157A>G	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.633A>G	2.37:g.219000157A>G							p.L211L	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1060	+			211					Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.633A>G	CCDS2408.1																																																																																				0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		54	719	0	0	0	1	0	54	719					G	219000157	A	G	219000157	2	3	79	1	0	0	0	0	0	0	0	1	4102	388	14	4		4	CXCR2	2	219000157	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242471	219000157	24199216	3460	13777											
CXCR1	3577	broad.mit.edu	37	chr2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttctgccccatgtggGccttaaacagtgtacgcagg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	232					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)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CCCCATGTGGGCCTTAAACAG	0.562																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(694-696)gCc>gTc		chemokine (C-X-C motif) receptor 1							135	125	129					2																	219029240		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029240G>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.695C>T	2.37:g.219029240G>A	ENSP00000295683:p.Ala232Val						p.A232V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	815	-			232					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.695C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615895	0.46631	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.108387	0.64402	D	0.000006	T	0.44871	0.1314	L	0.59436	1.845	0.24168	N	0.995634	P	0.38745	0.645	P	0.46419	0.516	T	0.44360	-0.9333	10	0.59425	D	0.04	.	6.8765	0.24149	0.0959:0.18:0.7241:0.0	.	232	P25024	CXCR1_HUMAN	V	232;176	ENSP00000295683:A232V	ENSP00000295683:A232V	A	-	2	0	CXCR1	218737485	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	6.300000	0.72776	2.210000	0.71456	0.561000	0.74099	GCC		0.562	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		173	602	0	0	0	1	0	173	602					A	219029240	G	A	219029240	3	1	79	1	0	0	0	0	1	0	0	0	4101	1203	42	2	361	2	CXCR1	2	219029240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29083	219029240	24170133	3461	13778											
CXCR1	3577	broad.mit.edu	37	chr2	219029293	219029293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagcatgacaaacagCggcacgatgaagccaaaggt	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029293C>T	ENST00000295683.2	-	2	762	c.642G>A	c.(640-642)ccG>ccA	p.P214P		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	214					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)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TGACAAACAGCGGCACGATGA	0.527																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(640-642)ccG>ccA		chemokine (C-X-C motif) receptor 1							129	115	120					2																	219029293		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029293C>T	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.642G>A	2.37:g.219029293C>T							p.P214P	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	762	-			214					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.642G>A	CCDS2409.1																																																																																				0.527	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		111	446	0	0	0	1	0	111	446					T	219029293	C	T	219029293	2	4	79	1	0	0	0	0	0	0	0	1	4101	755	27	1		1	CXCR1	2	219029293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	219029293	24170080	3462	13779											
ARPC2	10109	broad.mit.edu	37	chr2	219099092	219099092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttattaaagagggtgtaCgggagtttcttggtaaatcc	12	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	80					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGAGGGTGTACGGGAGTTTCT	0.328																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(238-240)taC>taT		actin related protein 2/3 complex, subunit 2, 34kDa							125	129	128					2																	219099092		2203	4300	6503	SO:0001819	synonymous_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099092C>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.240C>T	2.37:g.219099092C>T						ARPC2_ENST00000315717.5_Silent_p.Y80Y	p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	501	+		Renal(207;0.0474)	80					Q92801|Q9P1D4	Silent	SNP	ENST00000295685.10	37	c.240C>T	CCDS2410.1																																																																																				0.328	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		126	412	0	0	0	1	0	126	412					T	219099092	C	T	219099092	2	4	79	1	0	0	0	0	0	0	0	1	972	547	19	1		1	ARPC2	2	219099092	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69799	219099092	24100281	3463	13780											
ARPC2	10109	broad.mit.edu	37	chr2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggattccattgtgcatcaAgctggcatgttgaagcgaaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	112					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTGTGCATCAAGCTGGCATGT	0.403																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(334-336)caA>caC		actin related protein 2/3 complex, subunit 2, 34kDa							145	145	145					2																	219103454		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103454A>C	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.336A>C	2.37:g.219103454A>C	ENSP00000295685:p.Gln112His					ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H	p.Q112H	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	597	+		Renal(207;0.0474)	112					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.336A>C	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437524	0.43224	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.45137	1.4	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35201	-0.9798	9	0.52906	T	0.07	.	8.7287	0.34485	0.3803:0.0:0.6197:0.0	.	112	O15144	ARPC2_HUMAN	H	112	.	ENSP00000295685:Q112H	Q	+	3	2	ARPC2	218811699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.991000	0.49409	0.325000	0.23359	-0.376000	0.06991	CAA		0.403	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		238	688	0	0	0	1	0	238	688					C	219103454	A	C	219103454	3	2	79	1	0	0	0	0	1	0	0	0	972	69	3	4	354	4	ARPC2	2	219103454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4362	219103454	24095919	3464	13781											
VIL1	7429	broad.mit.edu	37	chr2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcacacaggtggaggtgCagaatgatggggctgagtcg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*|VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	333	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGTGCAGAATGATGG	0.577																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(997-999)Cag>Tag		villin 1							84	76	79					2																	219295496		2203	4300	6503	SO:0001587	stop_gained	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295496C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.997C>T	2.37:g.219295496C>T	ENSP00000248444:p.Gln333*					VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1085	+		Renal(207;0.0474)	333			Core.		B2R9A7|Q53S11|Q96AC8	Nonsense_Mutation	SNP	ENST00000248444.5	37	c.997C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401785	0.62288	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	.	.	.	4.13	4.13	0.48395	.	0.173549	0.36303	N	0.002661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.7601	11.3415	0.49535	0.0:0.6425:0.3575:0.0	.	.	.	.	X	333;22;333	.	ENSP00000248444:Q333X	Q	+	1	0	VIL1	219003740	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.972000	0.49256	2.154000	0.67381	0.462000	0.41574	CAG		0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		20	336	0	0	0	1	0	20	336					T	219295496	C	T	219295496	4	4	79	1	0	0	0	0	0	1	0	0	17218	711	25	2	1031	2	VIL1	2	219295496	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192042	219295496	23903877	3465	13782											
USP37	57695	broad.mit.edu	37	chr2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggcactcttggtttattCcagccagtgtaatcctggtt	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000258399.3	-	11	1387	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	325					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(973-975)tgG>tgA		ubiquitin specific peptidase 37							114	115	114					2																	219374752		2203	4300	6503	SO:0001587	stop_gained	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219374752C>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.975G>A	2.37:g.219374752C>T	ENSP00000258399:p.Trp325*					USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*	p.W325*	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	11	1387	-		Renal(207;0.0915)	325					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Nonsense_Mutation	SNP	ENST00000258399.3	37	c.975G>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	39	7.418739	0.98272	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6154	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;253;325	.	ENSP00000258399:W325X	W	-	3	0	USP37	219082996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.108000	0.64609	2.753000	0.94483	0.467000	0.42956	TGG		0.423	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		44	491	0	0	0	1	0	44	491					T	219374752	C	T	219374752	4	4	79	1	0	0	0	0	0	1	0	0	17122	856	30	2	2028	2	USP37	2	219374752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79256	219374752	23824621	3466	13783											
PLCD4	84812	broad.mit.edu	37	chr2	219492850	219492850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcctccccatctatcagGatatgactcaacccctgaac	5	17	3	2	rs534863670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219492850G>A	ENST00000450993.2	+	7	1210	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PLCD4_ENST00000417849.1_Missense_Mutation_p.D291N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D291N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	291	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTATCAGGATATGACTCA	0.522																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(871-873)Gat>Aat		phospholipase C, delta 4							143	144	144					2																	219492850		2062	4201	6263	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219492850G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.871G>A	2.37:g.219492850G>A	ENSP00000388631:p.Asp291Asn					PLCD4_ENST00000417849.1_Missense_Mutation_p.D291N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D291N	p.D291N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1210	+		Renal(207;0.0915)	291			PI-PLC X-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.871G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706341	0.96821	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.64085	-0.08;-0.08;-0.08	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.047569	0.85682	D	0.000000	T	0.81927	0.4926	M	0.84585	2.705	0.80722	D	1	P;D	0.89917	0.865;1.0	P;D	0.91635	0.905;0.999	D	0.84567	0.0653	10	0.72032	D	0.01	.	18.3981	0.90505	0.0:0.0:1.0:0.0	.	291;291	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	N	291	ENSP00000388631:D291N;ENSP00000396942:D291N;ENSP00000396185:D291N	ENSP00000251959:D291N	D	+	1	0	PLCD4	219201094	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.594000	0.98254	2.665000	0.90641	0.563000	0.77884	GAT		0.522	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			10	626	0	0	0	1	0	10	626					A	219492850	G	A	219492850	3	1	79	1	0	0	0	0	1	0	0	0	12075	1174	41	2	893	2	PLCD4	2	219492850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118098	219492850	23706523	3467	13784											
PLCD4	84812	broad.mit.edu	37	chr2	219494329	219494329	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttaccacggacacaccctGacctcccgcatcctgttcaa	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000450993.2	+	8	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	354	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1060-1062)ctG>ctA		phospholipase C, delta 4							63	70	67					2																	219494329		2100	4213	6313	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219494329G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1062G>A	2.37:g.219494329G>A						PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1401	+		Renal(207;0.0915)	354			PI-PLC X-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1062G>A	CCDS46516.1																																																																																				0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			14	166	0	0	0	1	0	14	166					A	219494329	G	A	219494329	2	1	79	1	0	0	0	0	0	0	0	1	12075	1277	45	2		2	PLCD4	2	219494329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479	219494329	23705044	3468	13785											
PLCD4	84812	broad.mit.edu	37	chr2	219497008	219497008	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcctgagccccaggagcaGaaccttcagaataaggacaa	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000450993.2	+	10	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000417849.1_Silent_p.Q474Q|PLCD4_ENST00000432688.1_Silent_p.Q474Q|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	474					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1420-1422)caG>caA		phospholipase C, delta 4							51	55	54					2																	219497008		1946	4150	6096	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219497008G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1422G>A	2.37:g.219497008G>A						PLCD4_ENST00000417849.1_Silent_p.Q474Q|PLCD4_ENST00000432688.1_Silent_p.Q474Q	p.Q474Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1761	+		Renal(207;0.0915)	474					Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1422G>A	CCDS46516.1																																																																																				0.478	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			31	61	0	0	0	1	0	31	61					A	219497008	G	A	219497008	2	1	79	1	0	0	0	0	0	0	0	1	12075	933	33	2		2	PLCD4	2	219497008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2679	219497008	23702365	3469	13786											
PLCD4	84812	broad.mit.edu	37	chr2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaccaaggccaagcGcctcatcaaggaggctggtc	11	13	3	1	rs371174811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000450993.2	+	11	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	530	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.001					ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1588-1590)cGc>cAc		phospholipase C, delta 4		G	HIS/ARG	0,3796		0,0,1898	55	51	52		1589	1.2	1	2		52	2,8240		0,2,4119	no	missense	PLCD4	NM_032726.3	29	0,2,6017	AA,AG,GG		0.0243,0.0,0.0166	possibly-damaging	530/763	219498467	2,12036	1898	4121	6019	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219498467G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1589G>A	2.37:g.219498467G>A	ENSP00000388631:p.Arg530His					PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	p.R530H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1928	+		Renal(207;0.0915)	530			PI-PLC Y-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1589G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730324	0.30684	0.0	2.43E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54279	0.58;0.58;0.58	5.53	1.16	0.20824	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.519476	0.23340	N	0.049252	T	0.46600	0.1401	M	0.62723	1.935	0.25396	N	0.988486	B	0.12013	0.005	B	0.04013	0.001	T	0.46679	-0.9174	10	0.87932	D	0	.	9.4467	0.38701	0.6826:0.0:0.3174:0.0	.	530	Q9BRC7	PLCD4_HUMAN	H	530;530;530;562	ENSP00000388631:R530H;ENSP00000396942:R530H;ENSP00000396185:R562H	ENSP00000251959:R530H	R	+	2	0	PLCD4	219206711	1.000000	0.71417	0.960000	0.40013	0.395000	0.30598	2.229000	0.42990	0.011000	0.14865	0.655000	0.94253	CGC		0.498	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			57	127	0	0	0	1	0	57	127					A	219498467	G	A	219498467	3	1	79	1	0	0	0	0	1	0	0	0	12075	1087	38	1	1627	1	PLCD4	2	219498467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1459	219498467	23700906	3470	13787											
ZNF142	7701	broad.mit.edu	37	chr2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagacgagagggatcagCacaggcataggggcagaggt	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000449707.1	-	8	4889	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4468-4470)Gct>Act		zinc finger protein 142							95	98	97					2																	219506771		2158	4273	6431	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219506771C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4468G>A	2.37:g.219506771C>T	ENSP00000408643:p.Ala1490Thr					ZNF142_ENST00000449707.1_Missense_Mutation_p.A1490T	p.A1490T			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	5247	-		Renal(207;0.0474)	1490					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4468G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048747	0.75846	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14516	2.5;2.5	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148988	0.64402	D	0.000010	T	0.18759	0.0450	N	0.04669	-0.19	0.47009	D	0.999286	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.41520	-0.9504	10	0.22109	T	0.4	-17.3075	19.8797	0.96891	0.0:1.0:0.0:0.0	.	1490;1327	P52746;A8MWU9	ZN142_HUMAN;.	T	1490	ENSP00000408643:A1490T;ENSP00000398798:A1490T	ENSP00000398798:A1490T	A	-	1	0	ZNF142	219215015	0.981000	0.34729	1.000000	0.80357	0.924000	0.55760	2.299000	0.43611	2.933000	0.99390	0.645000	0.84053	GCT		0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		101	310	0	0	0	1	0	101	310					T	219506771	C	T	219506771	3	4	79	1	0	0	0	0	1	0	0	0	17784	710	25	2	607	2	ZNF142	2	219506771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8304	219506771	23692602	3471	13788											
ZNF142	7701	broad.mit.edu	37	chr2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgaggtgctcctttaGggcctggctgaggcggaatt	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000449707.1	-	6	1223	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(802-804)Cta>Ata		zinc finger protein 142							34	36	35					2																	219513829		2059	4205	6264	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219513829G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.802C>A	2.37:g.219513829G>T	ENSP00000408643:p.Leu268Ile		OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2259	ZNF142_ENST00000449707.1_Missense_Mutation_p.L268I	p.L268I			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	5	1581	-		Renal(207;0.0474)	268					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.802C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160812	0.78226	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21031	2.03;2.03	5.06	5.06	0.68205	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.83312	2.635	0.42258	D	0.992001	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.58120	-0.7692	10	0.87932	D	0	-26.1267	18.9909	0.92791	0.0:0.0:1.0:0.0	.	268;105	P52746;A8MWU9	ZN142_HUMAN;.	I	268	ENSP00000408643:L268I;ENSP00000398798:L268I	ENSP00000398798:L268I	L	-	1	2	ZNF142	219222073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.797000	0.62503	2.797000	0.96272	0.563000	0.77884	CTA		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		52	197	1	0	6.14515e-18	1	6.80267e-18	52	197					T	219513829	G	T	219513829	3	4	79	1	0	0	0	0	1	0	0	0	17784	991	35	3	4281	3	ZNF142	2	219513829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7058	219513829	23685544	3472	13789											
BCS1L	617	broad.mit.edu	37	chr2	219525923	219525923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggctcacccgccacagTacccgtactcagcacctcag	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	71					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(211-213)agT>agC		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							127	129	128					2																	219525923		2203	4300	6503	SO:0001819	synonymous_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525923T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.213T>C	2.37:g.219525923T>C						BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S	p.S71S			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	912	+		Renal(207;0.0474)	71					B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	37	c.213T>C	CCDS2419.1																																																																																				0.552	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		48	712	0	0	0	1	0	48	712					C	219525923	T	C	219525923	2	2	79	1	0	0	0	0	0	0	0	1	1390	1635	57	4		4	BCS1L	2	219525923	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12094	219525923	23673450	3473	13790											
BCS1L	617	broad.mit.edu	37	chr2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgtactcagcacctcaGtgtcgagacttcgtaccttc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	78			S -> G (in GRACILE; dbSNP:rs28937590). {ECO:0000269|PubMed:12215968, ECO:0000269|PubMed:17314340}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(232-234)aGt>aAt		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							139	140	140					2																	219525943		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525943G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.233G>A	2.37:g.219525943G>A	ENSP00000413908:p.Ser78Asn					BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N	p.S78N			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	932	+		Renal(207;0.0474)	78		S -> G (in GRACILE; dbSNP:rs28937590).			B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.233G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195845	0.94960	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.85777	2.775	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	D	0.97782	1.0233	10	0.51188	T	0.08	-25.7679	19.3096	0.94182	0.0:0.0:1.0:0.0	.	78	Q9Y276	BCS1_HUMAN	N	78	ENSP00000398957:S78N;ENSP00000395440:S78N;ENSP00000352219:S78N;ENSP00000375957:S78N;ENSP00000375958:S78N;ENSP00000397293:S78N;ENSP00000375959:S78N;ENSP00000406494:S78N;ENSP00000404999:S78N;ENSP00000413908:S78N	ENSP00000352219:S78N	S	+	2	0	BCS1L	219234187	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	2.542000	0.85734	0.655000	0.94253	AGT		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		50	777	0	0	0	1	0	50	777					A	219525943	G	A	219525943	3	1	79	1	0	0	0	0	1	0	0	0	1390	1029	36	2	235	2	BCS1L	2	219525943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	219525943	23673430	3474	13791											
BCS1L	617	broad.mit.edu	37	chr2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggaagaccgtgatgTacacagctgtgggctctgaa	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	169					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(505-507)Tac>Cac		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							96	86	89					2																	219526526		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219526526T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.505T>C	2.37:g.219526526T>C	ENSP00000413908:p.Tyr169His					BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H	p.Y169H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1204	+		Renal(207;0.0474)	169					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.505T>C	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189675	0.57909	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.33	2.96	0.34315	BCS1, N-terminal (1);	0.115428	0.64402	N	0.000009	D	0.97986	0.9337	M	0.86651	2.83	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.96434	0.9321	10	0.51188	T	0.08	-19.5542	9.5157	0.39104	0.0:0.1425:0.0:0.8575	.	169	Q9Y276	BCS1_HUMAN	H	169;169;49;169;169;169;169;169;169;169	ENSP00000398957:Y169H;ENSP00000395440:Y169H;ENSP00000412729:Y49H;ENSP00000352219:Y169H;ENSP00000375957:Y169H;ENSP00000375958:Y169H;ENSP00000375959:Y169H;ENSP00000406494:Y169H;ENSP00000404999:Y169H;ENSP00000413908:Y169H	ENSP00000352219:Y169H	Y	+	1	0	BCS1L	219234770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	0.478000	0.27488	0.528000	0.53228	TAC		0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		38	170	0	0	0	1	0	38	170					C	219526526	T	C	219526526	3	2	79	1	0	0	0	0	1	0	0	0	1390	1638	57	4	515	4	BCS1L	2	219526526	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	583	219526526	23672847	3475	13792											
BCS1L	617	broad.mit.edu	37	chr2	219527252	219527252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagccctggctggggaaCtggagcacagcatctgcctg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.L247L			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	247					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(739-741)Ctg>Ttg		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							56	52	53					2																	219527252		2203	4300	6503	SO:0001819	synonymous_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527252C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.739C>T	2.37:g.219527252C>T						BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L	p.L247L			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1438	+		Renal(207;0.0474)	247					B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	37	c.739C>T	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833932	0.16820	.	.	ENSG00000074582	ENST00000426649	.	.	.	5.1	3.32	0.38043	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-17.5927	7.9752	0.30151	0.0:0.691:0.0:0.309	.	.	.	.	I	28	.	.	T	+	2	0	BCS1L	219235496	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	0.985000	0.29578	0.753000	0.32945	-0.266000	0.10368	ACT		0.627	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		55	384	0	0	0	1	0	55	384					T	219527252	C	T	219527252	2	4	79	1	0	0	0	0	0	0	0	1	1390	564	20	2		2	BCS1L	2	219527252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	219527252	23672121	3476	13793											
RNF25	64320	broad.mit.edu	37	chr2	219528785	219528785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggaagaaccgggtgtccgGcctttagagcgctcccagcg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	425					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652																																						ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1273-1275)ggC>ggA		ring finger protein 25							70	87	81					2																	219528785		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219528785G>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1275C>A	2.37:g.219528785G>T							p.G425G	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1715	-		Renal(207;0.0474)	425					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.1275C>A	CCDS2420.1																																																																																				0.652	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		302	723	1	0	4.81469e-126	1	6.20013e-126	302	723					T	219528785	G	T	219528785	2	4	79	1	0	0	0	0	0	0	0	1	13535	1190	42	3		3	RNF25	2	219528785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1533	219528785	23670588	3477	13794											
STK36	64320	broad.mit.edu	37	chr2	219538400	219538400	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcagagaaggagctgaGgaatttgcaacgagagattg	15	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219538400G>T	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000392106.2_Missense_Mutation_p.R46M|STK36_ENST00000295709.3_Missense_Mutation_p.R46M|STK36_ENST00000440309.1_Missense_Mutation_p.R46M	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGAGCTGAGGAATTTGCAA	0.463																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(136-138)aGg>aTg		serine/threonine kinase 36							78	76	76					2																	219538400		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219538400G>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538400G>T	Exception_encountered					STK36_ENST00000392106.2_Missense_Mutation_p.R46M|STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000440309.1_Missense_Mutation_p.R46M	p.R46M	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	3	416	+		Renal(207;0.0915)	46			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.137G>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703019	0.48412	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.72	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.402596	0.21314	N	0.076600	T	0.54367	0.1854	L	0.31578	0.945	0.40073	D	0.976035	B;B	0.25563	0.129;0.081	B;B	0.33042	0.097;0.157	T	0.50709	-0.8796	10	0.62326	D	0.03	-5.5108	7.5168	0.27606	0.4912:0.0:0.5088:0.0	.	46;46	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	M	46	ENSP00000295709:R46M;ENSP00000375955:R46M;ENSP00000375954:R46M;ENSP00000394095:R46M;ENSP00000403527:R46M	ENSP00000295709:R46M	R	+	2	0	STK36	219246644	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.139000	0.31504	0.321000	0.23259	-0.150000	0.13652	AGG		0.463	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		54	169	1	0	1.11015e-26	1	1.28132e-26	54	169					T	219538400	G	T	219538400	1	4	79	0	1	0	0	0	0	0	0	0	15354	1000	35	3		3	STK36	2	219538400	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9615	219538400	23660973	3478	13795											
TTLL4	9654	broad.mit.edu	37	chr2	219602420	219602420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctcagcaggaacacaGcactatagtattggcctccg	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Silent_p.Q7Q|TTLL4_ENST00000442769.1_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	7					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGAACACAGCACTATAGTA	0.587																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(19-21)caG>caA		tubulin tyrosine ligase-like family, member 4							56	55	55					2																	219602420		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602420G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.21G>A	2.37:g.219602420G>A						TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_Silent_p.Q7Q	p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	361	+		Renal(207;0.0915)	7					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.21G>A	CCDS2422.1																																																																																				0.587	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		45	291	0	0	0	1	0	45	291					A	219602420	G	A	219602420	2	1	79	1	0	0	0	0	0	0	0	1	16783	962	34	2		2	TTLL4	2	219602420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64020	219602420	23596953	3479	13796											
TTLL4	9654	broad.mit.edu	37	chr2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcattgcaggccacaGcagttcctgttacctacact	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	100					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGCCACAGCAGTTCCTGT	0.562																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(298-300)aGc>aAc		tubulin tyrosine ligase-like family, member 4							92	89	90					2																	219602698		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602698G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.299G>A	2.37:g.219602698G>A	ENSP00000375951:p.Ser100Asn					TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	639	+		Renal(207;0.0915)	100					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.299G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072001	0.20147	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.72	4.72	0.59763	.	0.309004	0.28515	N	0.015069	T	0.16727	0.0402	N	0.24115	0.695	0.23720	N	0.99703	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.021	T	0.11203	-1.0597	10	0.56958	D	0.05	.	8.7699	0.34726	0.1007:0.0:0.8993:0.0	.	100;100	E7EX20;Q14679	.;TTLL4_HUMAN	N	100	ENSP00000411228:S100N;ENSP00000375951:S100N;ENSP00000391342:S100N;ENSP00000396555:S100N;ENSP00000405485:S100N;ENSP00000258398:S100N	ENSP00000258398:S100N	S	+	2	0	TTLL4	219310942	0.006000	0.16342	0.911000	0.35937	0.494000	0.33585	1.061000	0.30542	2.441000	0.82636	0.563000	0.77884	AGC		0.562	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		178	489	0	0	0	1	0	178	489					A	219602698	G	A	219602698	3	1	79	1	0	0	0	0	1	0	0	0	16783	971	34	2	301	2	TTLL4	2	219602698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	219602698	23596675	3480	13797											
CYP27A1	1593	broad.mit.edu	37	chr2	219679736	219679736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgggcctgcagttcCtgcagagacagtgctgagct	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219679736C>A	ENST00000258415.4	+	9	2006	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	527					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CCTGCAGTTCCTGCAGAGACA	0.592																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(1579-1581)Ctg>Atg		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						97	88	91					2																	219679736		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679736C>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1579C>A	2.37:g.219679736C>A	ENSP00000258415:p.Leu527Met						p.L527M	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	9	2006	+		Renal(207;0.0474)	527					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1579C>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275684	0.59649	.	.	ENSG00000135929	ENST00000258415	T	0.69175	-0.38	4.39	4.39	0.52855	.	0.390354	0.25256	N	0.031985	T	0.60314	0.2259	N	0.08118	0	0.36027	D	0.839127	P	0.52692	0.955	P	0.58077	0.832	T	0.70142	-0.4953	10	0.49607	T	0.09	-10.1953	12.6347	0.56677	0.1767:0.8233:0.0:0.0	.	527	Q02318	CP27A_HUMAN	M	527	ENSP00000258415:L527M	ENSP00000258415:L527M	L	+	1	2	CYP27A1	219387980	0.949000	0.32298	0.995000	0.50966	0.835000	0.47333	0.080000	0.14802	2.365000	0.80145	0.655000	0.94253	CTG		0.592	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			7	330	1	0	0.0293803	1	0.0294705	7	330					A	219679736	C	A	219679736	3	1	79	1	0	0	0	0	1	0	0	0	4169	680	24	3	1613	3	CYP27A1	2	219679736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77038	219679736	23519637	3481	13798											
PRKAG3	53632	broad.mit.edu	37	chr2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaatcttggatagtgCggtagaggaaggagggccgg	17	7	1	1	rs372540696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000529249.1	-	10	1352	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	346					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTGGATAGTGCGGTAGAGGAA	0.597																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(961-963)cGc>cAc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							107	110	109					2																	219691782		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691782C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1037G>A	2.37:g.219691782C>T	ENSP00000436068:p.Arg346His					PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R346H|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H	p.R321H	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1057	-		Renal(207;0.0474)	346			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.962G>A	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689197|3.689197	0.68271|0.68271	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.91407	0.04|-2.84;-2.84;-2.84	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.102960	.|0.64402	.|D	.|0.000005	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.36672|0.36672	1.1|1.1	0.23798|0.23798	N|N	0.996819|0.996819	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	D|D	0.84430|0.84430	0.0576|0.0576	7|10	0.87932|0.66056	D|D	0|0.02	-12.6988|-12.6988	8.475|8.475	0.33007|0.33007	0.0:0.8359:0.0:0.1641|0.0:0.8359:0.0:0.1641	.|.	.|346	.|Q9UGI9	.|AAKG3_HUMAN	T|H	331|321;162;346	ENSP00000375947:A331T|ENSP00000397133:R321H;ENSP00000444536:R162H;ENSP00000436068:R346H	ENSP00000375947:A331T|ENSP00000233944:R346H	A|R	-|-	1|2	0|0	PRKAG3|PRKAG3	219400026|219400026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.096000|2.096000	0.41738|0.41738	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			27	955	0	0	0	1	0	27	955					T	219691782	C	T	219691782	3	4	79	1	0	0	0	0	1	0	0	0	12549	768	27	1	448	1	PRKAG3	2	219691782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12046	219691782	23507591	3482	13799											
PRKAG3	53632	broad.mit.edu	37	chr2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccactcacccctccagGtctcaatcttatgttgttca	4	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000529249.1	-	7	1127	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	271					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ACCCCTCCAGGTCTCAATCTT	0.552																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(736-738)aCc>aTc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							103	111	108					2																	219692564		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219692564G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.812C>T	2.37:g.219692564G>A	ENSP00000436068:p.Thr271Ile					PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000529249.1_Missense_Mutation_p.T271I|PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I	p.T246I	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	832	-		Renal(207;0.0474)	271			CBS 1.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.737C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187793	0.78789	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91945	-2.94;-2.94;-2.94	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.72032	D	0.01	-24.4549	16.1833	0.81925	0.0:0.0:1.0:0.0	.	271	Q9UGI9	AAKG3_HUMAN	I	246;87;271	ENSP00000397133:T246I;ENSP00000444536:T87I;ENSP00000436068:T271I	ENSP00000233944:T271I	T	-	2	0	PRKAG3	219400808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.234000	0.95347	2.283000	0.76528	0.655000	0.94253	ACC		0.552	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			30	204	0	0	0	1	0	30	204					A	219692564	G	A	219692564	3	1	79	1	0	0	0	0	1	0	0	0	12549	1261	44	2	685	2	PRKAG3	2	219692564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	782	219692564	23506809	3483	13800											
WNT6	7475	broad.mit.edu	37	chr2	219738522	219738522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtgctgcgtagtacaGtgccaccgctgccgtgtgcg	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	351					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(1051-1053)caG>caA		wingless-type MMTV integration site family, member 6							13	10	11					2																	219738522		2130	4176	6306	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219738522G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1053G>A	2.37:g.219738522G>A							p.Q351Q	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1270	+		Renal(207;0.0474)	351					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.1053G>A	CCDS2425.1																																																																																				0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		16	69	0	0	0	1	0	16	69					A	219738522	G	A	219738522	2	1	79	1	0	0	0	0	0	0	0	1	17447	1020	36	2		2	WNT6	2	219738522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45958	219738522	23460851	3484	13801											
WNT10A	80326	broad.mit.edu	37	chr2	219757865	219757865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatggctgcggcagcatgTgctgcggccgcggccacaac	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	ENST00000258411.3	+	4	1759	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	376					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCAGCATGTGCTGCGGCCG	0.701																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(1126-1128)Tgc>Cgc		wingless-type MMTV integration site family, member 10A							6	8	7					2																	219757865		2027	3991	6018	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219757865T>C	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.1126T>C	2.37:g.219757865T>C	ENSP00000258411:p.Cys376Arg						p.C376R	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1759	+		Renal(207;0.0474)	376					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.1126T>C	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577249	0.45902	.	.	ENSG00000135925	ENST00000258411	D	0.91686	-2.89	4.87	4.87	0.63330	.	0.111087	0.64402	D	0.000002	D	0.97626	0.9222	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98813	1.0744	10	0.87932	D	0	.	13.8041	0.63220	0.0:0.0:0.0:1.0	.	376	Q9GZT5	WN10A_HUMAN	R	376	ENSP00000258411:C376R	ENSP00000258411:C376R	C	+	1	0	WNT10A	219466109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.907000	0.69908	2.046000	0.60703	0.459000	0.35465	TGC		0.701	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		14	127	0	0	0	1	0	14	127					C	219757865	T	C	219757865	3	2	79	1	0	0	0	0	1	0	0	0	17436	1696	59	4	1140	4	WNT10A	2	219757865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19343	219757865	23441508	3485	13802											
CCDC108	255101	broad.mit.edu	37	chr2	219870946	219870946	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttgatgggaggcagtgtCtttgggaagggagggacatg	18	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000441968.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCAGTGTCTTTGGGAAGG	0.602																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e31-1		coiled-coil domain containing 108							52	58	56					2																	219870946		2202	4300	6502	SO:0001630	splice_region_variant	255101					integral to membrane	structural molecule activity	g.chr2:219870946C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4720-1G>T	2.37:g.219870946C>A						CCDC108_ENST00000453220.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Splice_Site		NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4803	-		Renal(207;0.0915)						A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Splice_Site	SNP	ENST00000341552.5	37		CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255038	0.39896	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC108	219579190	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.724000	0.61972	2.466000	0.83321	0.655000	0.94253	.		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	Intron	69	355	1	0	5.89852e-23	1	6.69324e-23	69	355					A	219870946	C	A	219870946	5	1	79	1	0	0	0	0	0	0	1	0	2750	927	32	3	1078	3	CCDC108	2	219870946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113081	219870946	23328427	3486	13803											
CCDC108	255101	broad.mit.edu	37	chr2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgaggaagagcaggCggctgcacttgctctgcaca	14	9	1	2	rs201564070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1458						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCAGGCGGCTGCACTT	0.522																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4372-4374)cGc>cAc		coiled-coil domain containing 108							97	92	93					2																	219874743		2201	4299	6500	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219874743C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4373G>A	2.37:g.219874743C>T	ENSP00000340776:p.Arg1458His					CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H	p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	27	4456	-		Renal(207;0.0915)	1458					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4373G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	33	5.231706	0.95207	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.11169	2.8;2.8;2.8	5.8	5.8	0.92144	.	0.000000	0.46442	D	0.000293	T	0.21962	0.0529	M	0.72894	2.215	0.80722	D	1	P	0.49961	0.93	P	0.45343	0.477	T	0.00611	-1.1645	10	0.87932	D	0	-29.3898	19.6518	0.95819	0.0:1.0:0.0:0.0	.	1458	Q6ZU64	CC108_HUMAN	H	1458	ENSP00000340776:R1458H;ENSP00000413377:R1458H;ENSP00000409117:R1458H	ENSP00000340776:R1458H	R	-	2	0	CCDC108	219582987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.752000	0.94435	0.650000	0.86243	CGC		0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		40	177	0	0	0	1	0	40	177					T	219874743	C	T	219874743	3	4	79	1	0	0	0	0	1	0	0	0	2750	768	27	1	1440	1	CCDC108	2	219874743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3797	219874743	23324630	3487	13804											
CCDC108	255101	broad.mit.edu	37	chr2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtccagagagaagaggCgccacaggtgcttccgggtg	17	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1129						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAGAGGCGCCACAGGTG	0.612																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3385-3387)cGc>cAc		coiled-coil domain containing 108							41	43	42					2																	219884315		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219884315C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3386G>A	2.37:g.219884315C>T	ENSP00000340776:p.Arg1129His					CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H	p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3469	-		Renal(207;0.0915)	1129					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3386G>A	CCDS2430.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.035950|2.035950	0.35893|0.35893	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.04|5.04	-1.92|-1.92	0.07618|0.07618	.|.	.|0.958231	.|0.08607	.|N	.|0.920538	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.14661|0.14661	0.345|0.345	0.37377|0.37377	D|D	0.911878|0.911878	.|B	.|0.26147	.|0.143	.|B	.|0.19391	.|0.025	T|T	0.35919|0.35919	-0.9769|-0.9769	5|10	.|0.39692	.|T	.|0.17	-5.0064|-5.0064	11.4139|11.4139	0.49941|0.49941	0.0:0.4375:0.0:0.5625|0.0:0.4375:0.0:0.5625	.|.	.|1129	.|Q6ZU64	.|CC108_HUMAN	T|H	38|1129	.|ENSP00000340776:R1129H;ENSP00000413377:R1129H;ENSP00000409117:R1129H	.|ENSP00000340776:R1129H	A|R	-|-	1|2	0|0	CCDC108|CCDC108	219592559|219592559	0.005000|0.005000	0.15991|0.15991	0.960000|0.960000	0.40013|0.40013	0.982000|0.982000	0.71751|0.71751	-0.237000|-0.237000	0.08990|0.08990	-0.636000|-0.636000	0.05524|0.05524	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		54	160	0	0	0	1	0	54	160					T	219884315	C	T	219884315	3	4	79	1	0	0	0	0	1	0	0	0	2750	768	27	1	2455	1	CCDC108	2	219884315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9572	219884315	23315058	3488	13805											
CCDC108	255101	broad.mit.edu	37	chr2	219894360	219894360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacccagctgaagttgAcacagtagtgctgcagggac	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219894360A>G	ENST00000341552.5	-	11	1498	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	472						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGTTGACACAGTAGTG	0.572											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1414-1416)gTc>gCc		coiled-coil domain containing 108							98	92	94					2																	219894360		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219894360A>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1415T>C	2.37:g.219894360A>G	ENSP00000340776:p.Val472Ala		OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A	p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1498	-		Renal(207;0.0915)	472					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.1415T>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412452	0.42817	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09817	3.23;3.23;3.23;2.94;2.95	5.18	5.18	0.71444	.	0.348102	0.20722	N	0.086883	T	0.26376	0.0644	M	0.74881	2.28	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.53035	0.716;0.716	T	0.01757	-1.1280	10	0.66056	D	0.02	-18.9174	15.1942	0.73071	1.0:0.0:0.0:0.0	.	461;472	E9PG25;Q6ZU64	.;CC108_HUMAN	A	472;472;472;461;407;406	ENSP00000340776:V472A;ENSP00000413377:V472A;ENSP00000409117:V472A;ENSP00000386945:V461A;ENSP00000386258:V407A	ENSP00000340776:V472A	V	-	2	0	CCDC108	219602604	0.884000	0.30299	0.296000	0.24974	0.007000	0.05969	6.267000	0.72546	2.172000	0.68678	0.533000	0.62120	GTC		0.572	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		13	510	0	0	0	1	0	13	510					G	219894360	A	G	219894360	3	3	79	1	0	0	0	0	1	0	0	0	2750	275	10	4	4462	4	CCDC108	2	219894360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10045	219894360	23305013	3489	13806											
SLC23A3	151295	broad.mit.edu	37	chr2	220033556	220033556	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actaccactgccccggacacCtggtagaagagaggagagga	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000409878.3	-	5	525		c.e5-1		SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000455516.2_Splice_Site	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGACACCTGGTAGAAGA	0.577																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.e5-1		solute carrier family 23, member 3							20	23	22					2																	220033556		1961	4137	6098	SO:0001630	splice_region_variant	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220033556C>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.493-1G>T	2.37:g.220033556C>A						SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000409878.3_Splice_Site		NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	564	-		Renal(207;0.0474)						B7Z512|Q2PYN6|Q96NA6	Splice_Site	SNP	ENST00000409878.3	37		CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589338	0.46214	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	.	.	.	4.85	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6874	0.56956	0.0:0.9197:0.0:0.0803	.	.	.	.	.	-1	.	.	.	-	.	.	SLC23A3	219741800	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.472000	0.53114	1.277000	0.44412	0.655000	0.94253	.		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712	Intron	6	157	1	0	0.0293803	1	0.0294705	6	157					A	220033556	C	A	220033556	5	1	79	1	0	0	0	0	0	0	1	0	14514	695	24	3	1372	3	SLC23A3	2	220033556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139196	220033556	23165817	3490	13807											
C2orf24	27013	broad.mit.edu	37	chr2	220037375	220037375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagggaacattgctgaGgctgaggaagtgaaaggagc	16	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220037375G>T	ENST00000409789.1	-	9	1593	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	SLC23A3_ENST00000396775.3_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.P389H|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000455516.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	389	Pro-rich.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ACATTGCTGAGGCTGAGGAAG	0.572																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(1165-1167)cCt>cAt		cyclin Pas1/PHO80 domain containing 1							83	83	83					2																	220037375		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220037375G>T	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1166C>A	2.37:g.220037375G>T	ENSP00000386277:p.Pro389His					CNPPD1_ENST00000360507.5_Missense_Mutation_p.P389H	p.P389H			Q9BV87	CNPD1_HUMAN			9	1593	-			389			Pro-rich.		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.1166C>A	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133740	0.37630	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.17054	2.3;2.3	5.04	5.04	0.67666	.	0.414350	0.26136	N	0.026127	T	0.18923	0.0454	L	0.29908	0.895	0.25133	N	0.990553	D	0.63046	0.992	P	0.52710	0.707	T	0.08186	-1.0734	10	0.72032	D	0.01	-3.7987	7.7599	0.28946	0.1401:0.0:0.8599:0.0	.	389	Q9BV87	CNPD1_HUMAN	H	389	ENSP00000353698:P389H;ENSP00000386277:P389H	ENSP00000353698:P389H	P	-	2	0	CNPPD1	219745619	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	3.285000	0.51716	2.609000	0.88269	0.655000	0.94253	CCT		0.572	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		92	418	1	0	5.10314e-47	1	6.27661e-47	92	418					T	220037375	G	T	220037375	3	4	79	1	0	0	0	0	1	0	0	0	2166	1000	35	3	70	3	C2orf24	2	220037375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3819	220037375	23161998	3491	13808											
ABCB6	10058	broad.mit.edu	37	chr2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcattcccagctgtgAcacggccgtaacggatattg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	689	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCTGTGACACGGCCGTA	0.542																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(2065-2067)gTc>gCc		ATP-binding cassette, sub-family B (MDR/TAP), member 6							90	81	84					2																	220075733		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220075733A>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2066T>C	2.37:g.220075733A>G	ENSP00000265316:p.Val689Ala					ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	p.V689A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2382	-		Renal(207;0.0474)	689			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.2066T>C	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.14|14.14	2.447439|2.447439	0.43429|0.43429	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90261	.|-2.64;-2.64	4.7|4.7	3.54|3.54	0.40534|0.40534	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.266329	.|0.37530	.|N	.|0.002060	T|T	0.78220|0.78220	0.4249|0.4249	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.18263	.|0.007;0.021	T|T	0.67818|0.67818	-0.5572|-0.5572	5|10	.|0.15066	.|T	.|0.55	-7.5861|-7.5861	10.1721|10.1721	0.42915|0.42915	0.92:0.0:0.08:0.0|0.92:0.0:0.08:0.0	.|.	.|643;689	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	537|689;643	.|ENSP00000265316:V689A;ENSP00000394333:V643A	.|ENSP00000265316:V689A	S|V	-|-	1|2	0|0	ABCB6|ABCB6	219783977|219783977	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.876000|0.876000	0.50452|0.50452	4.887000|4.887000	0.63156|0.63156	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		54	331	0	0	0	1	0	54	331					G	220075733	A	G	220075733	3	3	79	1	0	0	0	0	1	0	0	0	45	275	10	4	482	4	ABCB6	2	220075733	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38358	220075733	23123640	3492	13809											
ABCB6	10058	broad.mit.edu	37	chr2	220077786	220077786	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcctgcagagtctcccGcctgcaaggaaaggtggggt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	603	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e13-1		ATP-binding cassette, sub-family B (MDR/TAP), member 6							52	49	50					2																	220077786		2203	4300	6503	SO:0001630	splice_region_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077786G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1806-1C>T	2.37:g.220077786G>A						ABCB6_ENST00000439002.2_Splice_Site_p.R557_splice	p.R603_splice	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2123	-		Renal(207;0.0474)	603			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Splice_Site	SNP	ENST00000265316.3	37	c.1805_splice	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165506	0.38217	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.90844	-2.74;-2.74	4.69	2.81	0.32909	ABC transporter-like (1);	0.261056	0.36893	N	0.002359	D	0.91287	0.7253	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.989;0.99	P;B	0.47015	0.534;0.43	D	0.90771	0.4672	10	0.87932	D	0	-15.4509	12.1891	0.54257	0.0:0.0:0.3671:0.6329	.	557;603	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	603;557	ENSP00000265316:R603W;ENSP00000394333:R557W	ENSP00000265316:R603W	R	-	1	2	ABCB6	219786030	0.974000	0.33945	0.906000	0.35671	0.279000	0.26890	3.221000	0.51215	0.528000	0.28580	0.655000	0.94253	CGG		0.602	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	Missense_Mutation	14	105	0	0	0	1	0	14	105					A	220077786	G	A	220077786	5	1	79	1	0	0	0	0	0	0	1	0	45	1101	38	1	749	1	ABCB6	2	220077786	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2053	220077786	23121587	3493	13810											
ATG9A	79065	broad.mit.edu	37	chr2	220088899	220088899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagccaacacatcttcGtcataaatggtgagggcaat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000396761.2_Silent_p.D398D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	398					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCTTCGTCATAAATGG	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1192-1194)gaC>gaT		autophagy related 9A							160	170	167					2																	220088899		2131	4236	6367	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088899G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1194C>T	2.37:g.220088899G>A						ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000396761.2_Silent_p.D398D|ATG9A_ENST00000409422.1_Silent_p.D337D	p.D398D			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1633	-		Renal(207;0.0474)	398					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1194C>T	CCDS42820.1																																																																																				0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		241	1061	0	0	0	1	0	241	1061					A	220088899	G	A	220088899	2	1	79	1	0	0	0	0	0	0	0	1	1103	1136	40	1		1	ATG9A	2	220088899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11113	220088899	23110474	3494	13811											
ANKZF1	55139	broad.mit.edu	37	chr2	220100035	220100035	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaccccactgtgcaGtgagtaaaggtccccatcct	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100035G>A	ENST00000323348.5	+	10	1865		c.e10+1		GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Splice_Site|ANKZF1_ENST00000410034.3_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTGTGCAGTGAGTAAAGG	0.522																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.e10+1		ankyrin repeat and zinc finger domain containing 1							72	72	72					2																	220100035		1930	4131	6061	SO:0001630	splice_region_variant	55139					intracellular	zinc ion binding	g.chr2:220100035G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1691+1G>A	2.37:g.220100035G>A						ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site		NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1865	+		Renal(207;0.0474)						Q9NVZ4	Splice_Site	SNP	ENST00000323348.5	37		CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424284	0.43020	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.245	0.65983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219808279	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.630000	0.67805	2.746000	0.94184	0.655000	0.94253	.		0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	Intron	10	567	0	0	0	1	0	10	567					A	220100035	G	A	220100035	5	1	79	1	0	0	0	0	0	0	1	0	693	1043	36	2	1726	2	ANKZF1	2	220100035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11136	220100035	23099338	3495	13812											
ANKZF1	55139	broad.mit.edu	37	chr2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaacacgtaatgagttcCgaaggttcatggagaagaat	10	6	2	3	rs370396125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	585						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATGAGTTCCGAAGGTTCAT	0.488																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1753-1755)Cga>Tga		ankyrin repeat and zinc finger domain containing 1		C	stop/ARG,stop/ARG	0,3860		0,0,1930	102	93	96		1753,1753	5.5	1	2		96	1,8281		0,1,4140	no	stop-gained,stop-gained	ANKZF1	NM_001042410.1,NM_018089.2	,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,	585/727,585/727	220100257	1,12141	1930	4141	6071	SO:0001587	stop_gained	55139					intracellular	zinc ion binding	g.chr2:220100257C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1753C>T	2.37:g.220100257C>T	ENSP00000321617:p.Arg585*					ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*	p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1927	+		Renal(207;0.0474)	585					Q9NVZ4	Nonsense_Mutation	SNP	ENST00000323348.5	37	c.1753C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	40	8.291588	0.98745	0.0	1.21E-4	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4972	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	585;375;585	.	ENSP00000321617:R585X	R	+	1	2	ANKZF1	219808501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.100000	0.64560	2.840000	0.97914	0.655000	0.94253	CGA		0.488	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		90	358	0	0	0	1	0	90	358					T	220100257	C	T	220100257	4	4	79	1	0	0	0	0	0	1	0	0	693	644	23	1	1791	1	ANKZF1	2	220100257	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	220100257	23099116	3496	13813											
GLB1L	79411	broad.mit.edu	37	chr2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggccagaaggagcttgaGgatatggccattttggcaac	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	532					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1594-1596)cCt>cAt		galactosidase, beta 1-like							88	91	90					2																	220102328		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220102328G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1595C>A	2.37:g.220102328G>T	ENSP00000295759:p.Pro532His					GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H	p.P532H			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1908	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	532					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1595C>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136592	0.09032	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.09	1.17	0.20885	Galactose-binding domain-like (1);	0.645122	0.15254	N	0.272188	D	0.89146	0.6632	L	0.38175	1.15	0.09310	N	1	B;P	0.50943	0.001;0.94	B;P	0.50192	0.003;0.634	T	0.80580	-0.1319	10	0.44086	T	0.13	-0.3405	1.9772	0.03418	0.2197:0.1138:0.4649:0.2016	.	442;532	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	532;442;532;442	ENSP00000295759:P532H;ENSP00000386354:P442H;ENSP00000375939:P532H;ENSP00000348628:P442H	ENSP00000295759:P532H	P	-	2	0	GLB1L	219810572	0.070000	0.21116	0.018000	0.16275	0.438000	0.31896	0.519000	0.22862	0.735000	0.32537	0.655000	0.94253	CCT		0.458	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		123	404	1	0	6.83383e-50	1	8.46023e-50	123	404					T	220102328	G	T	220102328	3	4	79	1	0	0	0	0	1	0	0	0	6457	1000	35	3	377	3	GLB1L	2	220102328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2071	220102328	23097045	3497	13814											
GLB1L	79411	broad.mit.edu	37	chr2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaggttcgctagaGctgcctcattcagaaaggca	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000497855.1_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	110					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(328-330)gCt>gAt		galactosidase, beta 1-like							109	111	110					2																	220107551		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220107551G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.329C>A	2.37:g.220107551G>T	ENSP00000295759:p.Ala110Asp					GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D	p.A110D			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	642	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	110					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.329C>A	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.28|10.28	1.307833|1.307833	0.23821|0.23821	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68|.	6.17|6.17	5.28|5.28	0.74379|0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.431035|.	0.27048|.	N|.	0.021181|.	T|T	0.45094|0.45094	0.1325|0.1325	L|L	0.45285|0.45285	1.41|1.41	0.09310|0.09310	N|N	1|1	B;B|.	0.31548|.	0.328;0.004|.	B;B|.	0.27380|.	0.079;0.009|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.30854|.	T|.	0.27|.	0.3606|0.3606	14.0998|14.0998	0.65046|0.65046	0.0:0.0:0.6995:0.3005|0.0:0.0:0.6995:0.3005	.|.	110;110|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	D|I	110|43	ENSP00000295759:A110D;ENSP00000386354:A110D;ENSP00000375939:A110D;ENSP00000348628:A110D;ENSP00000400738:A110D|.	ENSP00000295759:A110D|.	A|L	-|-	2|1	0|0	GLB1L|GLB1L	219815795|219815795	0.338000|0.338000	0.24775|0.24775	0.057000|0.057000	0.19452|0.19452	0.869000|0.869000	0.49853|0.49853	3.374000|3.374000	0.52402|0.52402	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.507	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		139	416	1	0	3.54119e-60	1	4.4507e-60	139	416					T	220107551	G	T	220107551	3	4	79	1	0	0	0	0	1	0	0	0	6457	971	34	3	1691	3	GLB1L	2	220107551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5223	220107551	23091822	3498	13815											
TUBA4A	7277	broad.mit.edu	37	chr2	220115518	220115518	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggggatcacactttaccatCtggttggcaggctcaaagca	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000248437.4	-	4	1076	c.903G>A	c.(901-903)caG>caA	p.Q301Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q286Q	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	301					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTTACCATCTGGTTGGCAG	0.582																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(856-858)caG>caA		tubulin, alpha 4a							113	104	107					2																	220115518		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115518C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.903G>A	2.37:g.220115518C>T						TUBA4A_ENST00000248437.4_Silent_p.Q301Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q286Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1413	-		Renal(207;0.0474)	301					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.858G>A	CCDS2438.1																																																																																				0.582	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		209	542	0	0	0	1	0	209	542					T	220115518	C	T	220115518	2	4	79	1	0	0	0	0	0	0	0	1	16803	912	32	2		2	TUBA4A	2	220115518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7967	220115518	23083855	3499	13816											
TUBA4A	7277	broad.mit.edu	37	chr2	220116407	220116407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctctgggtggaagagCtgtcggtatgggccatttcg	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000248437.4	-	3	428	c.255G>A	c.(253-255)caG>caA	p.Q85Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q70Q	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	85					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GGTGGAAGAGCTGTCGGTATG	0.547																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(208-210)caG>caA		tubulin, alpha 4a							93	84	87					2																	220116407		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116407C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.255G>A	2.37:g.220116407C>T						TUBA4A_ENST00000248437.4_Silent_p.Q85Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q70Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	765	-		Renal(207;0.0474)	85					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.210G>A	CCDS2438.1																																																																																				0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		55	261	0	0	0	1	0	55	261					T	220116407	C	T	220116407	2	4	79	1	0	0	0	0	0	0	0	1	16803	796	28	2		2	TUBA4A	2	220116407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	889	220116407	23082966	3500	13817											
PTPRN	5798	broad.mit.edu	37	chr2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgggccccctcaggccCcagggctgccaggcgctcct	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	616					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)			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)		CCCTCAGGCCCCAGGGCTGCC	0.647																																						ENST00000295718.2																			0				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						c.(1846-1848)Ggg>Agg		protein tyrosine phosphatase, receptor type, N							18	19	19					2																	220162648		2194	4290	6484	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162648C>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.1846G>A	2.37:g.220162648C>T	ENSP00000295718:p.Gly616Arg					PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	p.G616R	NM_002846.3	NP_002837.1	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)	13	2086	-		Renal(207;0.0474)	616					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1846G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819837	0.71028	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.23370	0.0565	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4672	0.55766	0.0:0.9188:0.0:0.0812	.	587;616	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	587;616;587;526	ENSP00000386638:G587R;ENSP00000295718:G616R;ENSP00000444244:G526R	ENSP00000295718:G616R	G	-	1	0	PTPRN	219870892	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.002000	0.63952	1.229000	0.43630	0.655000	0.94253	GGG		0.647	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			32	112	0	0	0	1	0	32	112					T	220162648	C	T	220162648	3	4	79	1	0	0	0	0	1	0	0	0	12857	623	22	2	1137	2	PTPRN	2	220162648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46241	220162648	23036725	3501	13818											
PTPRN	5798	broad.mit.edu	37	chr2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacacacagagccacaGccagagccaccagcagccca	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D|PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	595					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)			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)		CAGAGCCACAGCCAGAGCCAC	0.657																																						ENST00000295718.2																			0				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						c.(1783-1785)gCt>gAt		protein tyrosine phosphatase, receptor type, N							45	44	44					2																	220162710		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162710G>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.1784C>A	2.37:g.220162710G>T	ENSP00000295718:p.Ala595Asp					PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	p.A595D	NM_002846.3	NP_002837.1	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)	13	2024	-		Renal(207;0.0474)	595					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1784C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781120	0.70222	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04015	3.85;3.73;3.73	4.76	4.76	0.60689	.	0.138904	0.49916	D	0.000134	T	0.11110	0.0271	L	0.40543	1.245	0.49130	D	0.999755	D;P	0.67145	0.996;0.885	P;B	0.59115	0.852;0.446	T	0.00926	-1.1512	10	0.66056	D	0.02	.	12.0899	0.53719	0.0836:0.0:0.9164:0.0	.	566;595	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	566;595;566;505	ENSP00000386638:A566D;ENSP00000295718:A595D;ENSP00000444244:A505D	ENSP00000295718:A595D	A	-	2	0	PTPRN	219870954	0.974000	0.33945	0.984000	0.44739	0.887000	0.51463	3.587000	0.53957	2.468000	0.83385	0.655000	0.94253	GCT		0.657	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			72	238	1	0	7.1157e-29	1	8.29994e-29	72	238					T	220162710	G	T	220162710	3	4	79	1	0	0	0	0	1	0	0	0	12857	971	34	3	1199	3	PTPRN	2	220162710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	220162710	23036663	3502	13819											
PTPRN	5798	broad.mit.edu	37	chr2	220162753	220162753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacacctgccagggccaccaGagtgagcagcactgagcgca	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162753G>A	ENST00000295718.2	-	13	1981	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	PTPRN_ENST00000409251.3_Silent_p.L552L|PTPRN_ENST00000423636.2_Silent_p.L491L|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	581					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)			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)		AGGGCCACCAGAGTGAGCAGC	0.642																																						ENST00000295718.2																			0				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						c.(1741-1743)Ctg>Ttg		protein tyrosine phosphatase, receptor type, N							64	62	62					2																	220162753		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162753G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1741C>T	2.37:g.220162753G>A						PTPRN_ENST00000423636.2_Silent_p.L491L|PTPRN_ENST00000409251.3_Silent_p.L552L	p.L581L	NM_002846.3	NP_002837.1	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)	13	1981	-		Renal(207;0.0474)	581					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1741C>T	CCDS2440.1																																																																																				0.642	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			93	327	0	0	0	1	0	93	327					A	220162753	G	A	220162753	2	1	79	1	0	0	0	0	0	0	0	1	12857	933	33	2		2	PTPRN	2	220162753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	220162753	23036620	3503	13820											
PTPRN	5798	broad.mit.edu	37	chr2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagctgggcaggtgaaGgccctggaaggtccccgtag	16	9	0	1	rs201446365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	267					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)			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)		GGCAGGTGAAGGCCCTGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17526	0.001		0.0	False		,,,				2504	0.0					ENST00000295718.2																			0				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						c.(799-801)cCt>cTt		protein tyrosine phosphatase, receptor type, N							23	26	25					2																	220167053		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167053G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.800C>T	2.37:g.220167053G>A	ENSP00000295718:p.Pro267Leu					AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	p.P267L	NM_002846.3	NP_002837.1	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	1040	-		Renal(207;0.0474)	267					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.800C>T	CCDS2440.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.91	1.781115	0.31502	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03386	3.95;3.98;3.98	4.85	3.97	0.46021	.	0.435749	0.21121	N	0.079803	T	0.03871	0.0109	N	0.24115	0.695	0.39568	D	0.969238	P;B	0.49090	0.919;0.007	P;B	0.47015	0.534;0.004	T	0.53563	-0.8421	10	0.52906	T	0.07	.	6.2459	0.20818	0.2543:0.0:0.7457:0.0	.	267;267	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	267;267;267;177	ENSP00000386638:P267L;ENSP00000295718:P267L;ENSP00000444244:P177L	ENSP00000295718:P267L	P	-	2	0	PTPRN	219875297	0.998000	0.40836	0.997000	0.53966	0.899000	0.52679	2.115000	0.41921	1.266000	0.44231	0.561000	0.74099	CCT		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			31	149	0	0	0	1	0	31	149					A	220167053	G	A	220167053	3	1	79	1	0	0	0	0	1	0	0	0	12857	1000	35	2	2211	2	PTPRN	2	220167053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4300	220167053	23032320	3504	13821											
DES	1674	broad.mit.edu	37	chr2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggatgagatggcccGccatctgcgcgagtaccagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	383	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607																																						ENST00000373960.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1147-1149)cGc>cAc		desmin							66	63	64					2																	220286186		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286186G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1148G>A	2.37:g.220286186G>A	ENSP00000363071:p.Arg383His						p.R383H	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1234	+		Renal(207;0.0183)	383			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1148G>A	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516165	0.96402	.	.	ENSG00000175084	ENST00000373960	D	0.90261	-2.64	5.12	5.12	0.69794	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95840	0.8646	M	0.86028	2.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.96252	0.9184	10	0.87932	D	0	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	383	P17661	DESM_HUMAN	H	383	ENSP00000363071:R383H	ENSP00000363071:R383H	R	+	2	0	DES	219994430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	CGC		0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		94	311	0	0	0	1	0	94	311					A	220286186	G	A	220286186	3	1	79	1	0	0	0	0	1	0	0	0	4465	1087	38	1	1170	1	DES	2	220286186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119133	220286186	22913187	3505	13822											
SPEG	10290	broad.mit.edu	37	chr2	220336654	220336654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccggtgtctacaagagCgtcattgccaacaagctggg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1260	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3778-3780)agC>agT		SPEG complex locus							64	70	68					2																	220336654		2164	4258	6422	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220336654C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3780C>T	2.37:g.220336654C>T						SPEG_ENST00000485813.1_3'UTR	p.S1260S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	14	3912	+		Renal(207;0.0183)	1260			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3780C>T	CCDS42824.1																																																																																				0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		40	199	0	0	0	1	0	40	199					T	220336654	C	T	220336654	2	4	79	1	0	0	0	0	0	0	0	1	15088	767	27	1		1	SPEG	2	220336654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50468	220336654	22862719	3506	13823											
SPEG	10290	broad.mit.edu	37	chr2	220338459	220338459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccctagctgccgaggGgccctcctagaggcacgggc	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1427	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4279-4281)ggG>ggT		SPEG complex locus							80	92	88					2																	220338459		2048	4191	6239	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220338459G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4281G>T	2.37:g.220338459G>T						SPEG_ENST00000485813.1_3'UTR	p.G1427G	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	18	4413	+		Renal(207;0.0183)	1427			Ig-like 7.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4281G>T	CCDS42824.1																																																																																				0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		165	898	1	0	2.82259e-58	1	3.53906e-58	165	898					T	220338459	G	T	220338459	2	4	79	1	0	0	0	0	0	0	0	1	15088	1219	43	3		3	SPEG	2	220338459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	220338459	22860914	3507	13824											
SPEG	10290	broad.mit.edu	37	chr2	220347984	220347984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctggaagagctgccCtcagtgccccgcccactgca	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1933					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5797-5799)ccC>ccT		SPEG complex locus							10	12	12					2																	220347984		1860	4074	5934	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220347984C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5799C>T	2.37:g.220347984C>T						AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.P1933P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	5931	+		Renal(207;0.0183)	1933					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5799C>T	CCDS42824.1																																																																																				0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	114	0	0	0	1	0	9	114					T	220347984	C	T	220347984	2	4	79	1	0	0	0	0	0	0	0	1	15088	668	24	2		2	SPEG	2	220347984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9525	220347984	22851389	3508	13825											
SPEG	10290	broad.mit.edu	37	chr2	220348005	220348005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgccccgcccactgcaGcccgagttctctggctcccg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1940					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5818-5820)caG>caA		SPEG complex locus							10	13	12					2																	220348005		1867	4079	5946	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348005G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5820G>A	2.37:g.220348005G>A						AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.Q1940Q	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	5952	+		Renal(207;0.0183)	1940					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5820G>A	CCDS42824.1																																																																																				0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		31	74	0	0	0	1	0	31	74					A	220348005	G	A	220348005	2	1	79	1	0	0	0	0	0	0	0	1	15088	962	34	2		2	SPEG	2	220348005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	220348005	22851368	3509	13826											
SPEG	10290	broad.mit.edu	37	chr2	220355360	220355360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgggaactcctctgtgggCtcagtgacaggtagctggga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220355360C>A	ENST00000312358.7	+	37	9283	c.9151C>A	c.(9151-9153)Ctc>Atc	p.L3051I	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3051	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTGTGGGCTCAGTGACAG	0.617																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9151-9153)Ctc>Atc		SPEG complex locus							74	82	79					2																	220355360		2058	4186	6244	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355360C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9151C>A	2.37:g.220355360C>A	ENSP00000311684:p.Leu3051Ile					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L3051I	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	9283	+		Renal(207;0.0183)	3051			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9151C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863706	0.51482	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.34	4.34	0.51931	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	0.36665	N	0.002461	T	0.62295	0.2416	N	0.20357	0.565	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.57957	-0.7721	10	0.25751	T	0.34	.	7.4991	0.27507	0.1681:0.7426:0.0:0.0893	.	3051	Q15772	SPEG_HUMAN	I	3051	ENSP00000311684:L3051I	ENSP00000265327:L3051I	L	+	1	0	SPEG	220063604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.417000	0.82017	0.591000	0.81541	CTC		0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		10	352	1	0	2.17888e-05	1	2.22852e-05	10	352					A	220355360	C	A	220355360	3	1	79	1	0	0	0	0	1	0	0	0	15088	797	28	3	9309	3	SPEG	2	220355360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7355	220355360	22844013	3510	13827											
SPEG	10290	broad.mit.edu	37	chr2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgccaccctcttcttgCgaaaggttctctctgtacat	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607																																						ENST00000312358.7																			1	Substitution - Nonsense(1)	p.R3196*(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9586-9588)Cga>Tga		SPEG complex locus							80	87	85					2																	220356957		2052	4177	6229	SO:0001587	stop_gained	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220356957C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9586C>T	2.37:g.220356957C>T	ENSP00000311684:p.Arg3196*					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.R3196*	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	40	9718	+		Renal(207;0.0183)	3196			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	ENST00000312358.7	37	c.9586C>T	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.842842|4.842842	0.91197|0.91197	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000412982|ENST00000312358;ENST00000265327	.|.	.|.	.|.	4.44|4.44	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.33401	.|N	.|0.004949	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	13.0031|13.0031	0.58687|0.58687	0.1683:0.8317:0.0:0.0|0.1683:0.8317:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|3196	.|.	.|ENSP00000265327:R3196X	A|R	+|+	2|1	0|2	SPEG|SPEG	220065201|220065201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.403000|2.403000	0.44530|0.44530	1.033000|1.033000	0.39918|0.39918	0.467000|0.467000	0.42956|0.42956	GCG|CGA		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		104	293	0	0	0	1	0	104	293					T	220356957	C	T	220356957	4	4	79	1	0	0	0	0	0	1	0	0	15088	760	27	1	9756	1	SPEG	2	220356957	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1597	220356957	22842416	3511	13828											
GMPPA	29926	broad.mit.edu	37	chr2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgttggaagcccaccgaCgccagcgtcaccctttctta	8	15	2	0	rs565848757	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C|GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	132					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18263	0.0		0.0	False		,,,				2504	0.002					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(394-396)Cgc>Tgc		GDP-mannose pyrophosphorylase A							174	158	164					2																	220366724		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366724C>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.394C>T	2.37:g.220366724C>T	ENSP00000350949:p.Arg132Cys					GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	763	+		Renal(207;0.0183)	132					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.394C>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197552	0.38806	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94330	-3.4;-3.4;-3.4;-3.4;-0.75;-0.75;-3.4	4.89	0.823	0.18812	Nucleotidyl transferase (1);	0.667620	0.15013	N	0.285472	D	0.86847	0.6031	L	0.33339	1.005	0.39447	D	0.967333	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.77803	-0.2451	10	0.45353	T	0.12	-18.2	6.5315	0.22330	0.0:0.651:0.1293:0.2197	.	132;132	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	132;132;132;132;132;97;132;62	ENSP00000315925:R132C;ENSP00000363027:R132C;ENSP00000350949:R132C;ENSP00000363016:R132C;ENSP00000392465:R132C;ENSP00000411060:R97C;ENSP00000340760:R132C	ENSP00000315925:R132C	R	+	1	0	GMPPA	220074968	0.985000	0.35326	0.982000	0.44146	0.641000	0.38312	1.580000	0.36547	0.143000	0.18926	-0.291000	0.09656	CGC		0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		107	1144	0	0	0	1	0	107	1144					T	220366724	C	T	220366724	3	4	79	1	0	0	0	0	1	0	0	0	6523	536	19	1	408	1	GMPPA	2	220366724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	220366724	22832649	3512	13829											
GMPPA	29926	broad.mit.edu	37	chr2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaactacggctgcatcGttgagaatccacagacacac	7	15	1	2	rs138077680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	156			V -> A (in dbSNP:rs13396066).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGGCTGCATCGTTGAGAATCC	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16216	0.0		0.0	False		,,,				2504	0.0					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(466-468)Gtt>Att		GDP-mannose pyrophosphorylase A		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	79	64	69		466,466	4.5	1	2	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GMPPA	NM_013335.3,NM_205847.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	156/421,156/421	220367140	2,13004	2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220367140G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.466G>A	2.37:g.220367140G>A	ENSP00000350949:p.Val156Ile					GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I	p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	6	835	+		Renal(207;0.0183)	156		V -> A (in dbSNP:rs13396066).			A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.466G>A	CCDS2441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.3	4.997176	0.93167	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.070922	0.56097	D	0.000035	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.62184	0.837;0.899	T	0.81547	-0.0883	10	0.56958	D	0.05	-19.0138	16.7265	0.85423	0.0:0.0:1.0:0.0	.	156;156	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	I	156;156;156;156;156;121;156;86	ENSP00000315925:V156I;ENSP00000363027:V156I;ENSP00000350949:V156I;ENSP00000363016:V156I;ENSP00000392465:V156I;ENSP00000411060:V121I;ENSP00000340760:V156I	ENSP00000315925:V156I	V	+	1	0	GMPPA	220075384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.046000	0.60703	0.561000	0.74099	GTT		0.567	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		22	146	0	0	0	1	0	22	146					A	220367140	G	A	220367140	3	1	79	1	0	0	0	0	1	0	0	0	6523	1145	40	1	484	1	GMPPA	2	220367140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416	220367140	22832233	3513	13830											
GMPPA	29926	broad.mit.edu	37	chr2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcggctccgggagagCatcgtcctccatggagccac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	322					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(964-966)agC>agA		GDP-mannose pyrophosphorylase A							43	36	38					2																	220370767		2202	4299	6501	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220370767C>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.966C>A	2.37:g.220370767C>A	ENSP00000350949:p.Ser322Arg					GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	11	1335	+		Renal(207;0.0183)	322					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.966C>A	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846470	0.51164	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	3.93	2.06	0.26882	Hexapeptide transferase, conserved site (1);	0.176776	0.49916	D	0.000126	D	0.94614	0.8264	M	0.85630	2.765	0.58432	D	0.999999	P;B	0.35493	0.505;0.391	B;B	0.41691	0.364;0.119	D	0.92854	0.6300	10	0.72032	D	0.01	5.0339	10.2762	0.43512	0.0:0.8438:0.0:0.1562	.	375;322	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	R	322;375;322;322;322	ENSP00000315925:S322R;ENSP00000363027:S375R;ENSP00000350949:S322R;ENSP00000363016:S322R;ENSP00000340760:S322R	ENSP00000315925:S322R	S	+	3	2	GMPPA	220079011	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.844000	0.48246	0.402000	0.25451	0.552000	0.68991	AGC		0.637	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		14	59	1	0	3.27435e-08	1	3.41456e-08	14	59					A	220370767	C	A	220370767	3	1	79	1	0	0	0	0	1	0	0	0	6523	709	25	3	1004	3	GMPPA	2	220370767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3627	220370767	22828606	3514	13831											
ACCN4	55515	broad.mit.edu	37	chr2	220379804	220379804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtcaccctctgcaatAtcaaccgcttccggcattcg	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379804A>G	ENST00000347842.3	+	1	753	c.739A>G	c.(739-741)Atc>Gtc	p.I247V	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.I247V	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	247					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCTCTGCAATATCAACCGCTT	0.682																																						ENST00000358078.4																			0											c.(739-741)Atc>Gtc		acid-sensing (proton-gated) ion channel family member 4							30	30	30					2																	220379804		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379804A>G	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.739A>G	2.37:g.220379804A>G	ENSP00000326627:p.Ile247Val					ASIC4_ENST00000347842.3_Missense_Mutation_p.I247V|AC053503.11_ENST00000429882.1_RNA	p.I247V			Q96FT7	ACCN4_HUMAN			1	753	+			247					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.739A>G	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627432	0.28978	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.62788	0.0;0.0	4.69	4.69	0.59074	.	0.133241	0.49916	D	0.000138	T	0.44912	0.1316	N	0.20807	0.61	0.41643	D	0.989084	B;B;B	0.28026	0.129;0.198;0.106	B;B;B	0.29862	0.07;0.108;0.042	T	0.40683	-0.9550	10	0.30078	T	0.28	-18.4194	9.428	0.38592	0.8414:0.0:0.0:0.1585	.	247;247;247	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	247	ENSP00000326627:I247V;ENSP00000350786:I247V	ENSP00000326627:I247V	I	+	1	0	ACCN4	220088048	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.492000	0.53259	1.969000	0.57287	0.533000	0.62120	ATC		0.682	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		20	336	0	0	0	1	0	20	336					G	220379804	A	G	220379804	3	3	79	1	0	0	0	0	1	0	0	0	131	449	16	4	741	4	ACCN4	2	220379804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9037	220379804	22819569	3515	13832											
ACCN4	55515	broad.mit.edu	37	chr2	220379823	220379823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcaaccgcttccggcattCggcactcagcgatgccgaca	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379823C>T	ENST00000347842.3	+	1	772	c.758C>T	c.(757-759)tCg>tTg	p.S253L	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.S253L	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	253					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TTCCGGCATTCGGCACTCAGC	0.672																																						ENST00000358078.4																			0											c.(757-759)tCg>tTg		acid-sensing (proton-gated) ion channel family member 4							42	38	39					2																	220379823		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379823C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.758C>T	2.37:g.220379823C>T	ENSP00000326627:p.Ser253Leu					ASIC4_ENST00000347842.3_Missense_Mutation_p.S253L|AC053503.11_ENST00000429882.1_RNA	p.S253L			Q96FT7	ACCN4_HUMAN			1	772	+			253					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.758C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772509	0.69992	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.70045	-0.45;-0.45	4.69	4.69	0.59074	.	0.376783	0.23750	N	0.044926	T	0.81187	0.4770	M	0.91354	3.2	0.80722	D	1	P;P;P	0.52842	0.722;0.956;0.956	B;P;B	0.51806	0.241;0.68;0.161	D	0.86523	0.1817	10	0.72032	D	0.01	-6.7538	17.4292	0.87534	0.0:1.0:0.0:0.0	.	253;253;253	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	L	253	ENSP00000326627:S253L;ENSP00000350786:S253L	ENSP00000326627:S253L	S	+	2	0	ACCN4	220088067	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.797000	0.69087	2.431000	0.82371	0.655000	0.94253	TCG		0.672	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		114	246	0	0	0	1	0	114	246					T	220379823	C	T	220379823	3	4	79	1	0	0	0	0	1	0	0	0	131	893	31	1	760	1	ACCN4	2	220379823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	220379823	22819550	3516	13833											
ACCN4	55515	broad.mit.edu	37	chr2	220379912	220379912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgtgcggctggcctgCgctacccagagcctgacatg	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379912C>T	ENST00000347842.3	+	1	861	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.R283C	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	283					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GGCTGGCCTGCGCTACCCAGA	0.627																																						ENST00000358078.4																			0											c.(847-849)Cgc>Tgc		acid-sensing (proton-gated) ion channel family member 4							55	48	51					2																	220379912		2203	4299	6502	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379912C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.847C>T	2.37:g.220379912C>T	ENSP00000326627:p.Arg283Cys					ASIC4_ENST00000347842.3_Missense_Mutation_p.R283C|AC053503.11_ENST00000429882.1_RNA	p.R283C			Q96FT7	ACCN4_HUMAN			1	861	+			283					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.847C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819936	0.71028	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65364	-0.15;-0.15	4.52	3.64	0.41730	.	0.627114	0.14692	N	0.304087	T	0.69450	0.3112	L	0.39245	1.2	0.47245	D	0.999361	D;D;D	0.76494	0.997;0.999;0.992	P;D;P	0.65987	0.827;0.94;0.681	T	0.69327	-0.5174	10	0.66056	D	0.02	-21.738	12.1941	0.54288	0.0:0.9159:0.0:0.084	.	283;283;283	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	C	283	ENSP00000326627:R283C;ENSP00000350786:R283C	ENSP00000326627:R283C	R	+	1	0	ACCN4	220088156	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.003000	0.40844	1.119000	0.41883	0.655000	0.94253	CGC		0.627	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		61	316	0	0	0	1	0	61	316					T	220379912	C	T	220379912	3	4	79	1	0	0	0	0	1	0	0	0	131	768	27	1	849	1	ACCN4	2	220379912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	220379912	22819461	3517	13834											
ACCN4	55515	broad.mit.edu	37	chr2	220397076	220397076	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggggcaactgccgcgcaGagagtgagctcagggagcct	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220397076G>T	ENST00000347842.3	+	4	1290	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ASIC4_ENST00000358078.4_Nonsense_Mutation_p.E426*|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	426					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CTGCCGCGCAGAGAGTGAGCT	0.642																																						ENST00000358078.4																			0											c.(1276-1278)Gag>Tag		acid-sensing (proton-gated) ion channel family member 4							49	49	49					2																	220397076		2203	4300	6503	SO:0001587	stop_gained	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220397076G>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1276G>T	2.37:g.220397076G>T	ENSP00000326627:p.Glu426*					ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Nonsense_Mutation_p.E426*	p.E426*			Q96FT7	ACCN4_HUMAN			4	1290	+			426					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Nonsense_Mutation	SNP	ENST00000347842.3	37	c.1276G>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353788	0.41700	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	.	.	.	4.1	4.1	0.47936	.	0.309838	0.32473	N	0.006041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.3794	12.0364	0.53427	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000326627:E426X	E	+	1	0	ACCN4	220105320	0.998000	0.40836	0.908000	0.35775	0.063000	0.16089	3.093000	0.50217	2.305000	0.77605	0.561000	0.74099	GAG		0.642	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		64	283	1	0	6.66387e-47	1	8.19462e-47	64	283					T	220397076	G	T	220397076	4	4	79	1	0	0	0	0	0	1	0	0	131	943	33	3	1290	3	ACCN4	2	220397076	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17164	220397076	22802297	3518	13835											
CHPF	79586	broad.mit.edu	37	chr2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaagaaggcctgccagccgGagatggcatgcatgcggcag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	634					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652																																						ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(1900-1902)tCc>tAc		chondroitin polymerizing factor							75	77	76					2																	220404532		2198	4292	6490	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404532G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1901C>A	2.37:g.220404532G>T	ENSP00000243776:p.Ser634Tyr					CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	p.S634Y	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2149	-		Renal(207;0.0183)	634					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1901C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945595	0.53079	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.62	4.62	0.57501	.	0.291280	0.34200	N	0.004164	T	0.33818	0.0876	L	0.61218	1.895	0.33336	D	0.569161	D	0.56521	0.976	P	0.62649	0.905	T	0.43861	-0.9365	10	0.56958	D	0.05	-17.1883	11.0376	0.47811	0.0:0.0:0.6841:0.3159	.	634	Q8IZ52	CHSS2_HUMAN	Y	634;472	ENSP00000243776:S634Y;ENSP00000445571:S472Y	ENSP00000243776:S634Y	S	-	2	0	CHPF	220112776	0.994000	0.37717	0.973000	0.42090	0.976000	0.68499	2.469000	0.45110	2.563000	0.86464	0.561000	0.74099	TCC		0.652	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		68	846	1	0	2.81305e-35	1	3.35631e-35	68	846					T	220404532	G	T	220404532	3	4	79	1	0	0	0	0	1	0	0	0	3377	1174	41	3	430	3	CHPF	2	220404532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7456	220404532	22794841	3519	13836											
TMEM198	130612	broad.mit.edu	37	chr2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccctcgtctgcatcatGtgctgtttgtttggagtcgt	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I|CHPF_ENST00000243776.6_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000373891.2_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	44					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(130-132)atG>atA		transmembrane protein 198							129	114	119					2																	220409581		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409581G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.132G>A	2.37:g.220409581G>A	ENSP00000343507:p.Met44Ile					TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I	p.M44I			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	717	+		Renal(207;0.0376)	44						Missense_Mutation	SNP	ENST00000344458.2	37	c.132G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058557	0.55325	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.42686	1.345	0.48762	D	0.999707	P	0.47841	0.901	P	0.46208	0.507	T	0.48387	-0.9040	9	0.11485	T	0.65	-32.5733	16.4838	0.84179	0.0:0.0:1.0:0.0	.	44	Q66K66	TM198_HUMAN	I	44;44;44;130	.	ENSP00000343507:M44I	M	+	3	0	TMEM198	220117825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.573000	0.67417	2.305000	0.77605	0.555000	0.69702	ATG		0.597	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		81	424	0	0	0	1	0	81	424					A	220409581	G	A	220409581	3	1	79	1	0	0	0	0	1	0	0	0	16171	1377	48	2	134	2	TMEM198	2	220409581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5049	220409581	22789792	3520	13837											
TMEM198	130612	broad.mit.edu	37	chr2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagtgctggggcgagcGcgggcatcgctctgggcatc	18	11	1	1	rs374926309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	96	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(286-288)Gcg>Acg		transmembrane protein 198		G	THR/ALA	0,4406		0,0,2203	135	132	133		286	4.1	0.8	2		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM198	NM_001005209.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	96/361	220412347	1,13005	2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220412347G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.286G>A	2.37:g.220412347G>A	ENSP00000343507:p.Ala96Thr					RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T	p.A96T			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	871	+		Renal(207;0.0376)	96			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.286G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871742	0.91587	0.0	1.16E-4	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.071196	0.56097	D	0.000021	T	0.72447	0.3461	M	0.71581	2.175	0.46279	D	0.998965	D	0.67145	0.996	P	0.56163	0.793	T	0.74003	-0.3804	9	0.37606	T	0.19	-26.0437	16.3706	0.83357	0.0:0.0:1.0:0.0	.	96	Q66K66	TM198_HUMAN	T	96	.	ENSP00000343507:A96T	A	+	1	0	TMEM198	220120591	1.000000	0.71417	0.786000	0.31890	0.668000	0.39293	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GCG		0.652	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		213	1114	0	0	0	1	0	213	1114					A	220412347	G	A	220412347	3	1	79	1	0	0	0	0	1	0	0	0	16171	1087	38	1	292	1	TMEM198	2	220412347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2766	220412347	22787026	3521	13838											
TMEM198	130612	broad.mit.edu	37	chr2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccatgctagtgcgcaGcgtgggcctcttcctggtgg	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	115	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(343-345)aGc>aAc		transmembrane protein 198							54	54	54					2																	220412405		2202	4298	6500	SO:0001583	missense	130612					integral to membrane		g.chr2:220412405G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.344G>A	2.37:g.220412405G>A	ENSP00000343507:p.Ser115Asn					TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N	p.S115N			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	929	+		Renal(207;0.0376)	115			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.344G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743012	0.69418	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.084192	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79475	2.455	0.43777	D	0.996302	D	0.59767	0.986	P	0.59012	0.85	T	0.73487	-0.3967	9	0.22706	T	0.39	-15.4832	16.3706	0.83357	0.0:0.0:1.0:0.0	.	115	Q66K66	TM198_HUMAN	N	115	.	ENSP00000343507:S115N	S	+	2	0	TMEM198	220120649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.253000	0.74438	0.591000	0.81541	AGC		0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		110	559	0	0	0	1	0	110	559					A	220412405	G	A	220412405	3	1	79	1	0	0	0	0	1	0	0	0	16171	971	34	2	350	2	TMEM198	2	220412405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	220412405	22786968	3522	13839											
OBSL1	23363	broad.mit.edu	37	chr2	220419272	220419272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtcggccaggcccagGccattgagtaccagtcggtg	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000373876.1_Silent_p.G1508G|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1600					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)						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)		CCAGGCCCAGGCCATTGAGTA	0.637																																						ENST00000404537.1																			0											c.(4798-4800)ggC>ggT		obscurin-like 1							36	46	42					2																	220419272		2129	4223	6352	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220419272G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4800C>T	2.37:g.220419272G>A						OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.G1508G	p.G1600G	NM_015311.2	NP_056126.1	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)	15	4856	-		Renal(207;0.0376)	1600					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.4800C>T	CCDS46520.1																																																																																				0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			9	212	0	0	0	1	0	9	212					A	220419272	G	A	220419272	2	1	79	1	0	0	0	0	0	0	0	1	10855	1190	42	2		2	OBSL1	2	220419272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6867	220419272	22780101	3523	13840											
OBSL1	23363	broad.mit.edu	37	chr2	220424002	220424002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatcacatacaaactcGcccccgtcctcgggctgagc	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000265318.4_Silent_p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				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.G1057G(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)		ATACAAACTCGCCCCCGTCCT	0.627																																						ENST00000404537.1																			1	Substitution - coding silent(1)	p.G1057G(1)	lung(1)								c.(3169-3171)ggC>ggT		obscurin-like 1							104	118	113					2																	220424002		2191	4275	6466	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220424002G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3171C>T	2.37:g.220424002G>A						RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000373876.1_Silent_p.G1057G	p.G1057G	NM_015311.2	NP_056126.1	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)	9	3227	-		Renal(207;0.0376)	1057			Ig-like 8.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3171C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939949	0.02322	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	0.0779	0.14410	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	.	10.546	0.45060	0.0:0.34:0.4822:0.1779	.	.	.	.	V	51	.	.	A	-	2	0	OBSL1	220132246	0.958000	0.32768	0.997000	0.53966	0.051000	0.14879	0.087000	0.14958	-0.098000	0.12285	-2.717000	0.00132	GCG		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			132	679	0	0	0	1	0	132	679					A	220424002	G	A	220424002	2	1	79	1	0	0	0	0	0	0	0	1	10855	1074	38	1		1	OBSL1	2	220424002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4730	220424002	22775371	3524	13841											
OBSL1	23363	broad.mit.edu	37	chr2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtgagggcagctgagtcCtgcacgccggggcagctgaa	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	703					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)						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)		CAGCTGAGTCCTGCACGCCGG	0.597																																						ENST00000404537.1																			0											c.(2107-2109)caG>caT		obscurin-like 1							55	58	57					2																	220431577		2070	4213	6283	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220431577C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2109G>T	2.37:g.220431577C>A	ENSP00000385636:p.Gln703His					OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H	p.Q703H	NM_015311.2	NP_056126.1	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)	5	2165	-		Renal(207;0.0376)	703					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.2109G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874794	0.17395	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.23	2.3	0.28687	.	.	.	.	.	T	0.30634	0.0771	L	0.33485	1.01	0.34611	D	0.717528	B;B;B;B	0.15719	0.014;0.002;0.009;0.014	B;B;B;B	0.24701	0.022;0.007;0.005;0.055	T	0.31251	-0.9950	9	0.44086	T	0.13	.	7.1136	0.25405	0.0:0.6768:0.1574:0.1658	.	704;703;290;703	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	703;703;703;703;290	ENSP00000265318:Q703H;ENSP00000385636:Q703H;ENSP00000362983:Q703H;ENSP00000362980:Q703H;ENSP00000289656:Q290H	ENSP00000265318:Q703H	Q	-	3	2	OBSL1	220139821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.762000	0.26503	0.776000	0.33473	0.655000	0.94253	CAG		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			74	342	1	0	1.77355e-41	1	2.15486e-41	74	342					A	220431577	C	A	220431577	3	1	79	1	0	0	0	0	1	0	0	0	10855	680	24	3	3801	3	OBSL1	2	220431577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7575	220431577	22767796	3525	13842											
STK11IP	114790	broad.mit.edu	37	chr2	220473436	220473436	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagctcgcaccttggagCgactggagctccagagtctg	13	12	1	1	rs369193971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	ENST00000456909.1	+	15	1825	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGGAGCGACTGGAGCT	0.657																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1735-1737)Cga>Tga		serine/threonine kinase 11 interacting protein							30	35	33					2																	220473436		1994	4162	6156	SO:0001587	stop_gained	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473436C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1735C>T	2.37:g.220473436C>T	ENSP00000389383:p.Arg579*					STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*	p.R579*			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1825	+		Renal(207;0.0183)	590			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.1735C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.930152	0.97944	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.21	3.32	0.38043	.	0.164085	0.36482	N	0.002580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8113	9.2282	0.37421	0.3935:0.6065:0.0:0.0	.	.	.	.	X	579;558;590	.	ENSP00000295641:R590X	R	+	1	2	STK11IP	220181680	0.991000	0.36638	0.935000	0.37517	0.769000	0.43574	2.815000	0.48018	0.961000	0.38030	0.561000	0.74099	CGA		0.657	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		10	138	0	0	0	1	0	10	138					T	220473436	C	T	220473436	4	4	79	1	0	0	0	0	0	1	0	0	15340	760	27	1	1826	1	STK11IP	2	220473436	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41859	220473436	22725937	3526	13843											
STK11IP	114790	broad.mit.edu	37	chr2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaccggcagttgcgtcGctatttggtgctggagcctg	14	12	0	1	rs368637601		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	640					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1885-1887)cGc>cAc		serine/threonine kinase 11 interacting protein		G	HIS/ARG	0,4126		0,0,2063	34	35	34		1919	5	1	2		34	1,8379		0,1,4189	no	missense	STK11IP	NM_052902.2	29	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	640/1100	220473895	1,12505	2063	4190	6253	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473895G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1886G>A	2.37:g.220473895G>A	ENSP00000389383:p.Arg629His					STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H	p.R629H			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1976	+		Renal(207;0.0183)	640					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.439158	0.83885	0.0	1.19E-4	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05996	3.36;3.36	5.0	5.0	0.66597	.	0.486615	0.20714	N	0.087027	T	0.19046	0.0457	L	0.60455	1.87	0.34520	D	0.708063	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.855	T	0.04178	-1.0971	10	0.46703	T	0.11	-12.346	15.3457	0.74334	0.0:0.0:1.0:0.0	.	608;640;640	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	H	629;608;640	ENSP00000389383:R629H;ENSP00000295641:R640H	ENSP00000295641:R640H	R	+	2	0	STK11IP	220182139	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	2.394000	0.44450	2.595000	0.87683	0.655000	0.94253	CGC		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		17	51	0	0	0	1	0	17	51					A	220473895	G	A	220473895	3	1	79	1	0	0	0	0	1	0	0	0	15340	1087	38	1	1981	1	STK11IP	2	220473895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	220473895	22725478	3527	13844											
STK11IP	114790	broad.mit.edu	37	chr2	220479906	220479906	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggtccccggcagagccctCtcctccagcagcatctggcg	12	17	2	1	rs577871796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479906C>A	ENST00000456909.1	+	24	3050	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	998					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGCCCTCTCCTCCAGCA	0.652																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(2959-2961)tCt>tAt		serine/threonine kinase 11 interacting protein							17	19	19					2																	220479906		2187	4291	6478	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479906C>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2960C>A	2.37:g.220479906C>A	ENSP00000389383:p.Ser987Tyr					STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y	p.S987Y			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3050	+		Renal(207;0.0183)	998					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2960C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.315|9.315	1.056601|1.056601	0.19907|0.19907	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000447191|ENST00000456909;ENST00000295641	.|T;T	.|0.05513	.|3.43;3.43	4.63|4.63	0.678|0.678	0.17969|0.17969	.|.	.|0.798511	.|0.11322	.|N	.|0.575908	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.17722	.|0.019	T|T	0.43458|0.43458	-0.9390|-0.9390	5|10	.|0.66056	.|D	.|0.02	-0.0309|-0.0309	1.5459|1.5459	0.02565|0.02565	0.1706:0.4752:0.1656:0.1887|0.1706:0.4752:0.1656:0.1887	.|.	.|998	.|Q8N1F8	.|S11IP_HUMAN	I|Y	87|987;998	.|ENSP00000389383:S987Y;ENSP00000295641:S998Y	.|ENSP00000295641:S998Y	L|S	+|+	1|2	0|0	STK11IP|STK11IP	220188150|220188150	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.195000|1.195000	0.32186|0.32186	-0.055000|-0.055000	0.13244|0.13244	-0.291000|-0.291000	0.09656|0.09656	CTC|TCT		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		5	54	1	0	1.23904e-05	1	1.26975e-05	5	54					A	220479906	C	A	220479906	3	1	79	1	0	0	0	0	1	0	0	0	15340	913	32	3	3087	3	STK11IP	2	220479906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6011	220479906	22719467	3528	13845											
STK11IP	114790	broad.mit.edu	37	chr2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgggccctgctgtgcGtgtcagggagcagcagccac	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1020					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(3025-3027)cGt>cAt		serine/threonine kinase 11 interacting protein							15	18	17					2																	220479972		2090	4208	6298	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479972G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3026G>A	2.37:g.220479972G>A	ENSP00000389383:p.Arg1009His					STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H	p.R1009H			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3116	+		Renal(207;0.0183)	1020					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.3026G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.291|3.291	-0.144925|-0.144925	0.06627|0.06627	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.04917|.	3.54;3.53|.	4.53|4.53	0.362|0.362	0.16113|0.16113	.|.	1.300970|.	0.04990|.	N|.	0.467081|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.30854|.	T|.	0.27|.	1.988|1.988	6.9002|6.9002	0.24279|0.24279	0.4374:0.0:0.5626:0.0|0.4374:0.0:0.5626:0.0	.|.	1020|.	Q8N1F8|.	S11IP_HUMAN|.	H|M	1009;1020|109	ENSP00000389383:R1009H;ENSP00000295641:R1020H|.	ENSP00000295641:R1020H|.	R|V	+|+	2|1	0|0	STK11IP|STK11IP	220188216|220188216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.210000|-0.210000	0.09345|0.09345	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		15	81	0	0	0	1	0	15	81					A	220479972	G	A	220479972	3	1	79	1	0	0	0	0	1	0	0	0	15340	1145	40	1	3153	1	STK11IP	2	220479972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	220479972	22719401	3529	13846											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct					rs557843124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				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)			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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		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.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del	p.RK307del			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)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.65	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	575						8	575	---	---	---	---	-	220496801	GAA	-	220496799	7	5	79	1	0	1	0	1	0	0	0	0	14705	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-IB-7651-01A-11D-2154-08	16827	220496799	22702574	3530	13847											
SLC4A3	6508	broad.mit.edu	37	chr2	220496996	220496996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccaggtgttcgtggagCtgaacgagctgatgctggac	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	325					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)			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)		GTTCGTGGAGCTGAACGAGCT	0.667																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(973-975)Ctg>Ttg		solute carrier family 4 (anion exchanger), member 3							36	41	40					2																	220496996		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496996C>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.973C>T	2.37:g.220496996C>T						SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373760.2_Silent_p.L325L	p.L325L			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)	8	1485	+		Renal(207;0.0183)	325					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.973C>T	CCDS2445.1																																																																																				0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		52	212	0	0	0	1	0	52	212					T	220496996	C	T	220496996	2	4	79	1	0	0	0	0	0	0	0	1	14705	796	28	2		2	SLC4A3	2	220496996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	220496996	22702377	3531	13848											
SLC4A3	6508	broad.mit.edu	37	chr2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatccggccggaggacaGggccagcgtcctacgtaccc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	414					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)			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)		CCGGAGGACAGGGCCAGCGTC	0.647																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(1240-1242)aGg>aAg		solute carrier family 4 (anion exchanger), member 3							66	58	61					2																	220497695		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497695G>A		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.1241G>A	2.37:g.220497695G>A	ENSP00000350756:p.Arg414Lys					SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K	p.R414K			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)	9	1753	+		Renal(207;0.0183)	414					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.1241G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758539	0.89843	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	L	0.53780	1.695	0.80722	D	1	D;D	0.63880	0.975;0.993	D;D	0.65323	0.934;0.916	T	0.74942	-0.3492	10	0.31617	T	0.26	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	414;441	P48751;P48751-3	B3A3_HUMAN;.	K	414;414;441;441;414;216	ENSP00000350756:R414K;ENSP00000362865:R414K;ENSP00000273063:R441K;ENSP00000362867:R441K;ENSP00000314006:R414K;ENSP00000414722:R216K	ENSP00000273063:R441K	R	+	2	0	SLC4A3	220205939	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.859000	0.99545	2.163000	0.67991	0.643000	0.83706	AGG		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		40	228	0	0	0	1	0	40	228					A	220497695	G	A	220497695	3	1	79	1	0	0	0	0	1	0	0	0	14705	1000	35	2	1352	2	SLC4A3	2	220497695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	699	220497695	22701678	3532	13849											
SLC4A3	6508	broad.mit.edu	37	chr2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctccctgcaggcttaTcgtcagccagaaggcgcgga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	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)			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)		TGCAGGCTTATCGTCAGCCAG	0.662																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3028-3030)aTc>aGc		solute carrier family 4 (anion exchanger), member 3							50	57	54					2																	220504209		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504209T>G		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.3029T>G	2.37:g.220504209T>G	ENSP00000350756:p.Ile1010Ser					SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S	p.I1010S			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)	20	3541	+		Renal(207;0.0183)	1010			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3029T>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703605	0.68501	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96175	3.78	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	D	0.96060	0.9038	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.0:0.0:1.0	.	714;1010;1037	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1010;1010;1037;1037;270;1010	ENSP00000350756:I1010S;ENSP00000362865:I1010S;ENSP00000273063:I1037S;ENSP00000362867:I1037S;ENSP00000314006:I1010S	ENSP00000273063:I1037S	I	+	2	0	SLC4A3	220212453	1.000000	0.71417	0.932000	0.37286	0.580000	0.36256	7.699000	0.84547	1.968000	0.57251	0.440000	0.28878	ATC		0.662	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		83	458	0	0	0	1	0	83	458					G	220504209	T	G	220504209	3	3	79	1	0	0	0	0	1	0	0	0	14705	1435	50	4	3184	4	SLC4A3	2	220504209	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6514	220504209	22695164	3533	13850											
EPHA4	2043	broad.mit.edu	37	chr2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctgttggggttgCggatgagtttgtccaacatg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000281821.2	-	15	2689	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	883					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTTGGGGTTGCGGATGAGTTT	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2647-2649)cGc>cAc		EPH receptor A4							191	187	188					2																	222294720		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294720C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2648G>A	2.37:g.222294720C>T	ENSP00000281821:p.Arg883His					EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	p.R883H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2689	-		Renal(207;0.0183)	883					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2648G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994878	0.93167	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.097095	0.64402	D	0.000001	T	0.76737	0.4029	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76366	-0.2985	10	0.66056	D	0.02	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	883	P54764	EPHA4_HUMAN	H	883;883;883;832	ENSP00000281821:R883H;ENSP00000386276:R883H;ENSP00000386829:R883H;ENSP00000375923:R832H	ENSP00000281821:R883H	R	-	2	0	EPHA4	222002964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.822000	0.97130	0.650000	0.86243	CGC		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			126	735	0	0	0	1	0	126	735					T	222294720	C	T	222294720	3	4	79	1	0	0	0	0	1	0	0	0	5187	768	27	1	324	1	EPHA4	2	222294720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1790511	222294720	20904653	3534	13851											
EPHA4	2043	broad.mit.edu	37	chr2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgaaacgctctttgTcgttgtctgattcatagtag	9	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000281821.2	-	3	436	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACGCTCTTTGTCGTTGTCTGA	0.443																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(394-396)gAc>gGc		EPH receptor A4							172	157	162					2																	222428879		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428879T>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.395A>G	2.37:g.222428879T>C	ENSP00000281821:p.Asp132Gly					EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	p.D132G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	436	-		Renal(207;0.0183)	132					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.395A>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373050	0.61624	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.00443	-1.1736	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	132	P54764	EPHA4_HUMAN	G	132;132;132;81;73;132	ENSP00000281821:D132G;ENSP00000386276:D132G;ENSP00000386829:D132G;ENSP00000375923:D81G;ENSP00000410158:D73G;ENSP00000444085:D132G	ENSP00000281821:D132G	D	-	2	0	EPHA4	222137123	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	GAC		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			28	695	0	0	0	1	0	28	695					C	222428879	T	C	222428879	3	2	79	1	0	0	0	0	1	0	0	0	5187	1667	58	4	2625	4	EPHA4	2	222428879	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134159	222428879	20770494	3535	13852											
FARSB	10056	broad.mit.edu	37	chr2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagtaaagtcagttcccGtgcattcaataaaaatattt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	256					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.T256M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299																																						ENST00000281828.6																			1	Substitution - Missense(1)	p.T256M(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(766-768)aCg>aTg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						66	73	71					2																	223496342		2203	4298	6501	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223496342G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.767C>T	2.37:g.223496342G>A	ENSP00000281828:p.Thr256Met					FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	p.T256M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	8	1030	-		Renal(207;0.0183)	256					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.767C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818072	0.71028	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.32515	1.45;1.45	5.35	5.35	0.76521	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.046696	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.85097	0.0955	10	0.87932	D	0	-11.8711	17.3077	0.87199	0.0:0.0:1.0:0.0	.	256;256	A8K666;Q9NSD9	.;SYFB_HUMAN	M	256;157	ENSP00000281828:T256M;ENSP00000442950:T157M	ENSP00000281828:T256M	T	-	2	0	FARSB	223204586	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.814000	0.86154	2.502000	0.84385	0.585000	0.79938	ACG		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		92	316	0	0	0	1	0	92	316					A	223496342	G	A	223496342	3	1	79	1	0	0	0	0	1	0	0	0	5705	1145	40	1	1042	1	FARSB	2	223496342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1067463	223496342	19703031	3536	13853											
ACSL3	2181	broad.mit.edu	37	chr2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccgttttattttttctccGagtcaagacaagaaaaatca	5	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	46					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E46*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Nonsense(2)	p.E46*(2)	lung(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(136-138)Gag>Aag		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						78	84	82					2																	223773626		2202	4298	6500	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223773626G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.136G>A	2.37:g.223773626G>A	ENSP00000350012:p.Glu46Lys					ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	4	667	+		Renal(207;0.0183)	46					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.136G>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611047	0.46631	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	.	0.319425	0.34362	N	0.004030	T	0.17365	0.0417	N	0.05078	-0.115	0.41100	D	0.985667	B	0.24483	0.104	B	0.15870	0.014	T	0.09058	-1.0692	10	0.19590	T	0.45	-18.1443	18.9699	0.92711	0.0:0.0:1.0:0.0	.	46	O95573	ACSL3_HUMAN	K	46	ENSP00000350012:E46K;ENSP00000375918:E46K	ENSP00000350012:E46K	E	+	1	0	ACSL3	223481870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.483000	0.60264	2.703000	0.92315	0.655000	0.94253	GAG		0.299	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		95	494	0	0	0	1	0	95	494					A	223773626	G	A	223773626	3	1	79	1	0	0	0	0	1	0	0	0	178	1059	37	1	138	1	ACSL3	2	223773626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277284	223773626	19425747	3537	13854											
ACSL3	2181	broad.mit.edu	37	chr2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttggtcccacgcctgcGgcacatcatcactgttgatg	9	13	3	1	rs376738660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	232					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R232Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Missense(2)	p.R232Q(2)	endometrium(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(694-696)cGg>cAg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	115	98	104		695,695	4.8	1	2		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACSL3	NM_004457.3,NM_203372.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	232/721,232/721	223783810	1,13005	2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223783810G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.695G>A	2.37:g.223783810G>A	ENSP00000350012:p.Arg232Gln					AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	7	1226	+		Renal(207;0.0183)	232					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.695G>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196268	0.58126	0.0	1.16E-4	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41400	2.81;2.81;1.0	5.65	4.77	0.60923	AMP-dependent synthetase/ligase (1);	0.118921	0.64402	D	0.000015	T	0.25457	0.0619	N	0.08118	0	0.48511	D	0.999661	B	0.23316	0.083	B	0.19148	0.024	T	0.04781	-1.0927	10	0.46703	T	0.11	-10.7174	14.5474	0.68041	0.0702:0.0:0.9298:0.0	.	232	O95573	ACSL3_HUMAN	Q	232;232;80	ENSP00000350012:R232Q;ENSP00000375918:R232Q;ENSP00000441643:R80Q	ENSP00000350012:R232Q	R	+	2	0	ACSL3	223492054	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.937000	0.70162	1.402000	0.46780	-0.136000	0.14681	CGG		0.483	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		67	218	0	0	0	1	0	67	218					A	223783810	G	A	223783810	3	1	79	1	0	0	0	0	1	0	0	0	178	1116	39	1	709	1	ACSL3	2	223783810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10184	223783810	19415563	3538	13855											
ACSL3	2181	broad.mit.edu	37	chr2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattattgctggtataactGggatggcagaaaggattcca	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	310					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(928-930)Ggg>Tgg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						154	151	152					2																	223786120		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223786120G>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.928G>T	2.37:g.223786120G>T	ENSP00000350012:p.Gly310Trp					ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	8	1459	+		Renal(207;0.0183)	310					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.928G>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792366	0.90453	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.43688	2.84;2.84;0.94	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78349	-0.2238	10	0.87932	D	0	-13.1041	18.5621	0.91104	0.0:0.0:1.0:0.0	.	310	O95573	ACSL3_HUMAN	W	310;310;80	ENSP00000350012:G310W;ENSP00000375918:G310W;ENSP00000404182:G80W	ENSP00000350012:G310W	G	+	1	0	ACSL3	223494364	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	9.869000	0.99810	2.374000	0.81015	0.591000	0.81541	GGG		0.368	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		172	563	1	0	3.64303e-86	1	4.6696e-86	172	563					T	223786120	G	T	223786120	3	4	79	1	0	0	0	0	1	0	0	0	178	1348	47	3	946	3	ACSL3	2	223786120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2310	223786120	19413253	3539	13856											
KCNE4	23704	broad.mit.edu	37	chr2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagagcgtggcgcccGcgctgtcctgcaccctctgt	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	163						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672																																						ENST00000281830.3																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)	10						c.(487-489)Gcg>Acg		potassium voltage-gated channel, Isk-related family, member 4							46	46	46					2																	223917882		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917882G>A	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"Potassium channels"	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.487G>A	2.37:g.223917882G>A	ENSP00000281830:p.Ala163Thr					KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron	p.A163T			Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	818	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	112					B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592390	0.66219	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.27349	0.0671	N	0.14661	0.345	0.38093	D	0.937028	P	0.48998	0.918	B	0.35510	0.204	T	0.21724	-1.0237	9	0.48119	T	0.1	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	T	112	.	ENSP00000281830:A112T	A	+	1	0	KCNE4	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG		0.672	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		108	266	0	0	0	1	0	108	266					A	223917882	G	A	223917882	3	1	79	1	0	0	0	0	1	0	0	0	8055	1087	38	1	336	1	KCNE4	2	223917882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131762	223917882	19281491	3540	13857											
SCG2	7857	broad.mit.edu	37	chr2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcatccatcctctcacGtttctggttgtttggtcctg	7	14	3	0	rs377214328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTCTCACGTTTCTGGTTG	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(646-648)Cgt>Tgt		secretogranin II		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	214	193	200		646	4.9	1	2		200	0,8600	1.2+/-3.3	0,0,4300	no	missense	SCG2	NM_003469.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	216/618	224463355	1,13005	2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463355G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.646C>T	2.37:g.224463355G>A	ENSP00000304133:p.Arg216Cys						p.R216C	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	878	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	216					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.646C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190095	0.21954	2.27E-4	0.0	ENSG00000171951	ENST00000305409	T	0.02369	4.32	5.74	4.86	0.63082	.	0.176089	0.45361	D	0.000371	T	0.12902	0.0313	M	0.66939	2.045	0.51767	D	0.999934	D	0.89917	1.0	D	0.76575	0.988	T	0.00280	-1.1852	10	0.87932	D	0	.	13.072	0.59068	0.0:0.0:0.5598:0.4402	.	216	P13521	SCG2_HUMAN	C	216	ENSP00000304133:R216C	ENSP00000304133:R216C	R	-	1	0	SCG2	224171599	0.994000	0.37717	0.998000	0.56505	0.105000	0.19272	2.047000	0.41269	1.406000	0.46857	0.650000	0.86243	CGT		0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		151	761	0	0	0	1	0	151	761					A	224463355	G	A	224463355	3	1	79	1	0	0	0	0	1	0	0	0	13941	1145	40	1	1211	1	SCG2	2	224463355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545473	224463355	18736018	3541	13858											
SCG2	7857	broad.mit.edu	37	chr2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcttggaagacagaTtccaatgtagcaaggctttg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAAGACAGATTCCAATGTAG	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(595-597)gaA>gaT		secretogranin II							189	172	178					2																	224463404		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463404T>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.597A>T	2.37:g.224463404T>A	ENSP00000304133:p.Glu199Asp						p.E199D	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	829	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	199					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.597A>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201959	0.58234	.	.	ENSG00000171951	ENST00000305409	T	0.01745	4.66	5.65	-0.275	0.12906	.	0.199090	0.45361	D	0.000371	T	0.06142	0.0159	L	0.60455	1.87	0.36118	D	0.845319	D	0.71674	0.998	D	0.67725	0.953	T	0.11991	-1.0565	10	0.62326	D	0.03	.	12.1782	0.54198	0.0:0.5511:0.0:0.4489	.	199	P13521	SCG2_HUMAN	D	199	ENSP00000304133:E199D	ENSP00000304133:E199D	E	-	3	2	SCG2	224171648	0.216000	0.23585	0.999000	0.59377	0.990000	0.78478	-0.391000	0.07323	0.146000	0.19002	0.477000	0.44152	GAA		0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		146	690	0	0	0	1	0	146	690					A	224463404	T	A	224463404	3	1	79	1	0	0	0	0	1	0	0	0	13941	1490	52	5	1260	5	SCG2	2	224463404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	224463404	18735969	3542	13859											
SERPINE2	5270	broad.mit.edu	37	chr2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcacaccatcaataagatCtggggacagcagattgtcaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000258405.4	-	4	756	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y|SERPINE2_ENST00000409840.3_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	172					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(514-516)Gat>Tat		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							75	64	68					2																	224856691		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224856691C>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.514G>T	2.37:g.224856691C>A	ENSP00000258405:p.Asp172Tyr					SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y	p.D172Y			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	1174	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	172					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.514G>T	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498938	0.64298	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;T;T;T;T	0.76060	1.82;-0.99;1.82;1.82;1.82	5.8	3.03	0.35002	Serpin domain (3);	0.255713	0.44902	D	0.000417	D	0.86965	0.6060	M	0.92833	3.35	0.58432	D	0.999991	D;D	0.60160	0.987;0.987	D;P	0.66084	0.941;0.904	D	0.86978	0.2102	10	0.87932	D	0	.	10.199	0.43071	0.0:0.7855:0.0:0.2145	.	184;172	B4DIF2;P07093	.;GDN_HUMAN	Y	172;172;172;184;172	ENSP00000386412:D172Y;ENSP00000258405:D172Y;ENSP00000386969:D172Y;ENSP00000415786:D184Y;ENSP00000408452:D172Y	ENSP00000258405:D172Y	D	-	1	0	SERPINE2	224564935	0.993000	0.37304	0.012000	0.15200	0.982000	0.71751	3.012000	0.49575	0.364000	0.24374	0.650000	0.86243	GAT		0.488	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		36	139	1	0	1.06647e-15	1	1.16694e-15	36	139					A	224856691	C	A	224856691	3	1	79	1	0	0	0	0	1	0	0	0	14162	913	32	3	706	3	SERPINE2	2	224856691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393287	224856691	18342682	3543	13860											
SERPINE2	5270	broad.mit.edu	37	chr2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtgggagcagatggaaGgcagcgtcacagaggccaag	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000258405.4	-	2	289	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H|SERPINE2_ENST00000409840.3_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	16					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(46-48)cCt>cAt		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							103	114	110					2																	224866571		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866571G>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.47C>A	2.37:g.224866571G>T	ENSP00000258405:p.Pro16His					SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H	p.P16H			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	707	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	16					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.47C>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982535	0.18889	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84730	-1.88;-0.89;-1.88;-1.89;-1.48;-1.61	5.17	4.28	0.50868	Serpin domain (1);	0.803013	0.11963	N	0.512566	T	0.68997	0.3062	N	0.08118	0	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.33521	0.165;0.165	T	0.55515	-0.8129	10	0.15066	T	0.55	.	10.7667	0.46297	0.0706:0.0:0.7983:0.1311	.	28;16	B4DIF2;P07093	.;GDN_HUMAN	H	16;16;16;28;16;16;16	ENSP00000386412:P16H;ENSP00000258405:P16H;ENSP00000386969:P16H;ENSP00000415786:P28H;ENSP00000408452:P16H;ENSP00000399655:P16H	ENSP00000258405:P16H	P	-	2	0	SERPINE2	224574815	0.995000	0.38212	0.228000	0.23943	0.098000	0.18820	3.601000	0.54059	1.269000	0.44280	0.655000	0.94253	CCT		0.483	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		80	473	1	0	4.05715e-38	1	4.88277e-38	80	473					T	224866571	G	T	224866571	3	4	79	1	0	0	0	0	1	0	0	0	14162	1000	35	3	1181	3	SERPINE2	2	224866571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9880	224866571	18332802	3544	13861											
FAM124B	79843	broad.mit.edu	37	chr2	225266170	225266170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaaagtagggacacaGccttccccgagtgtcctggg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	ENST00000409685.3	-	1	581	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000389874.3_Missense_Mutation_p.L106M	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	106										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TAGGGACACAGCCTTCCCCGA	0.597																																						ENST00000389874.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(316-318)Ctg>Atg		family with sequence similarity 124B							60	56	58					2																	225266170		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266170G>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.316C>A	2.37:g.225266170G>T	ENSP00000386895:p.Leu106Met					FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000409685.3_Missense_Mutation_p.L106M	p.L106M	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	541	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	106					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.316C>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601680	0.28534	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.69	0.361	0.16107	.	1.078210	0.07017	N	0.826143	T	0.39253	0.1071	L	0.36672	1.1	0.09310	N	1	P;B	0.47253	0.892;0.429	P;B	0.50537	0.643;0.323	T	0.31194	-0.9952	10	0.29301	T	0.29	-2.5578	5.3943	0.16261	0.3452:0.0:0.4768:0.1779	.	106;106	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	M	106	ENSP00000374524:L106M;ENSP00000386895:L106M;ENSP00000243806:L106M	ENSP00000243806:L106M	L	-	1	2	FAM124B	224974414	0.787000	0.28750	0.004000	0.12327	0.552000	0.35366	1.063000	0.30567	0.325000	0.23359	0.655000	0.94253	CTG		0.597	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		15	202	1	0	7.93312e-07	1	8.20014e-07	15	202					T	225266170	G	T	225266170	3	4	79	1	0	0	0	0	1	0	0	0	5447	962	34	3	1150	3	FAM124B	2	225266170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399599	225266170	17933203	3545	13862											
CUL3	8452	broad.mit.edu	37	chr2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaaatgtggcattgagaTctgcagaacccatatgatgc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	558					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1672-1674)gAt>gGt		cullin 3							148	140	143					2																	225362504		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362504T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1673A>G	2.37:g.225362504T>C	ENSP00000264414:p.Asp558Gly					CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G	p.D558G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	2011	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	558					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1673A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371427	0.95923	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;D	0.68353	0.888;0.932;0.888;0.957	D	0.91128	0.4935	10	0.51188	T	0.08	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	492;536;534;558	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	G	558;492;534;534	ENSP00000264414:D558G;ENSP00000343601:D492G;ENSP00000387200:D534G;ENSP00000386525:D534G	ENSP00000264414:D558G	D	-	2	0	CUL3	225070748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.023000	0.88764	2.367000	0.80283	0.528000	0.53228	GAT		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			85	322	0	0	0	1	0	85	322					C	225362504	T	C	225362504	3	2	79	1	0	0	0	0	1	0	0	0	4067	1435	50	4	653	4	CUL3	2	225362504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96334	225362504	17836869	3546	13863											
DOCK10	55619	broad.mit.edu	37	chr2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgcaaagctgattaAgctcagaaaccttcttggac	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000258390.7	-	53	6195	c.6128T>G	c.(6127-6129)cTt>cGt	p.L2043R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L2037R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2043	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGCTGATTAAGCTCAGAAAC	0.458																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(6109-6111)cTt>cGt		dedicator of cytokinesis 10							132	127	128					2																	225637950		2125	4252	6377	SO:0001583	missense	55619						GTP binding	g.chr2:225637950A>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6128T>G	2.37:g.225637950A>C	ENSP00000258390:p.Leu2043Arg					DOCK10_ENST00000258390.7_Missense_Mutation_p.L2043R	p.L2037R			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	53	6223	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2043			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6110T>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722240	0.89298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.39592	1.07;1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.80625	-0.1299	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	2043;2037;705	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	R	2037;2043;550	ENSP00000386694:L2037R;ENSP00000258390:L2043R	ENSP00000258390:L2043R	L	-	2	0	DOCK10	225346194	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	8.962000	0.93254	2.145000	0.66743	0.533000	0.62120	CTT		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			52	173	0	0	0	1	0	52	173					C	225637950	A	C	225637950	3	2	79	1	0	0	0	0	1	0	0	0	4701	72	3	4	448	4	DOCK10	2	225637950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	275446	225637950	17561423	3547	13864											
DOCK10	55619	broad.mit.edu	37	chr2	225639794	225639794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtcacataggtcacctgGatgtaggcatatttggggtc	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000258390.7	-	52	5908	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK10_ENST00000409592.3_Silent_p.I1941I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1947	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTCACCTGGATGTAGGCAT	0.488																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5821-5823)atC>atT		dedicator of cytokinesis 10							85	85	85					2																	225639794		1975	4172	6147	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225639794G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5841C>T	2.37:g.225639794G>A						DOCK10_ENST00000258390.7_Silent_p.I1947I	p.I1941I			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	52	5936	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1947			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.5823C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278103	0.23307	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	.	11.8314	0.52297	0.148:0.0:0.852:0.0	.	.	.	.	S	97	.	.	P	-	1	0	DOCK10	225348038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	1.413000	0.46997	0.563000	0.77884	CCA		0.488	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			46	150	0	0	0	1	0	46	150					A	225639794	G	A	225639794	2	1	79	1	0	0	0	0	0	0	0	1	4701	1164	41	2		2	DOCK10	2	225639794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1844	225639794	17559579	3548	13865											
DOCK10	55619	broad.mit.edu	37	chr2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagcgaccaaacagccGcttctccgaattcaccacct	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000258390.7	-	50	5681	c.5614C>T	c.(5614-5616)Cgg>Tgg	p.R1872W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1866W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1872	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAACAGCCGCTTCTCCGAA	0.433																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5596-5598)Cgg>Tgg		dedicator of cytokinesis 10							131	127	128					2																	225651780		1890	4117	6007	SO:0001583	missense	55619						GTP binding	g.chr2:225651780G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5614C>T	2.37:g.225651780G>A	ENSP00000258390:p.Arg1872Trp					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1872W	p.R1866W			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5709	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1872			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5596C>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045660|4.045660	0.75846|0.75846	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.33865	.|1.39;1.39	5.99|5.99	4.15|4.15	0.48705|0.48705	.|.	.|0.111909	.|0.56097	.|D	.|0.000022	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.93328|0.93328	3.405|3.405	0.47737|0.47737	D|D	0.999502|0.999502	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.999	T|T	0.77456|0.77456	-0.2581|-0.2581	5|10	.|0.87932	.|D	.|0	.|.	14.1883|14.1883	0.65620|0.65620	0.0:0.0:0.6072:0.3928|0.0:0.0:0.6072:0.3928	.|.	.|1872;693;1866;534	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	V|W	19|1866;1872;377	.|ENSP00000386694:R1866W;ENSP00000258390:R1872W	.|ENSP00000258390:R1872W	A|R	-|-	2|1	0|2	DOCK10|DOCK10	225360024|225360024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.115000|3.115000	0.50391|0.50391	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			152	429	0	0	0	1	0	152	429					A	225651780	G	A	225651780	3	1	79	1	0	0	0	0	1	0	0	0	4701	1086	38	1	974	1	DOCK10	2	225651780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11986	225651780	17547593	3549	13866											
DOCK10	55619	broad.mit.edu	37	chr2	225651821	225651821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactttcagatatgacCgatgaatgtcgtagtagaga	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651821C>A	ENST00000258390.7	-	50	5640	c.5573G>T	c.(5572-5574)cGg>cTg	p.R1858L	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1852L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1858	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGATATGACCGATGAATGTC	0.403																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5554-5556)cGg>cTg		dedicator of cytokinesis 10							132	124	127					2																	225651821		1878	4113	5991	SO:0001583	missense	55619						GTP binding	g.chr2:225651821C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5573G>T	2.37:g.225651821C>A	ENSP00000258390:p.Arg1858Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1858L	p.R1852L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5668	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1858			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5555G>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236618	0.95240	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.20200	2.09;2.09	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.61036	1.89	0.80722	D	1	D;D;P;P	0.69078	0.98;0.997;0.955;0.956	P;D;P;P	0.72075	0.753;0.976;0.663;0.612	T	0.21348	-1.0248	10	0.56958	D	0.05	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1858;679;1852;520	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1852;1858;363	ENSP00000386694:R1852L;ENSP00000258390:R1858L	ENSP00000258390:R1858L	R	-	2	0	DOCK10	225360065	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CGG		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	542	1	0	0.0477658	1	0.0478703	8	542					A	225651821	C	A	225651821	3	1	79	1	0	0	0	0	1	0	0	0	4701	652	23	3	1015	3	DOCK10	2	225651821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	225651821	17547552	3550	13867											
KIAA1486	57624	broad.mit.edu	37	chr2	226378301	226378301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccacccaaacccaagaggGaccccagcaccaagctgagc	8	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226378301G>A	ENST00000272907.6	+	3	849	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	146					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCCAAGAGGGACCCCAGCAC	0.572																																						ENST00000272907.6																			0											c.(436-438)Gac>Aac		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							68	85	79					2																	226378301		2103	4231	6334	SO:0001583	missense	57624							g.chr2:226378301G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.436G>A	2.37:g.226378301G>A	ENSP00000272907:p.Asp146Asn					NYAP2_ENST00000409269.2_Intron	p.D146N	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			3	849	+			146					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.436G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141108	0.94560	.	.	ENSG00000144460	ENST00000272907	T	0.51574	0.7	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.58583	1.82	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.63795	-0.6556	10	0.41790	T	0.15	-20.7283	19.5365	0.95255	0.0:0.0:1.0:0.0	.	146	Q9P242	K1486_HUMAN	N	146	ENSP00000272907:D146N	ENSP00000272907:D146N	D	+	1	0	KIAA1486	226086545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.400000	0.97290	2.614000	0.88457	0.563000	0.77884	GAC		0.572	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		13	236	0	0	0	1	0	13	236					A	226378301	G	A	226378301	3	1	79	1	0	0	0	0	1	0	0	0	8267	1174	41	2	442	2	KIAA1486	2	226378301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726480	226378301	16821072	3551	13868											
KIAA1486	57624	broad.mit.edu	37	chr2	226447226	226447226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtcacgaagcttcccGtgctggaaaacgtgtcttac	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226447226G>A	ENST00000272907.6	+	4	1506	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	365	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGCTTCCCGTGCTGGAAAA	0.647																																						ENST00000272907.6																			0											c.(1093-1095)Gtg>Atg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							16	20	19					2																	226447226		1964	4133	6097	SO:0001583	missense	57624							g.chr2:226447226G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1093G>A	2.37:g.226447226G>A	ENSP00000272907:p.Val365Met					NYAP2_ENST00000409269.2_Intron	p.V365M	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1506	+			365			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1093G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207181	0.22205	.	.	ENSG00000144460	ENST00000272907	T	0.55930	0.49	5.06	4.17	0.49024	.	0.117306	0.56097	D	0.000021	T	0.69602	0.3129	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70684	-0.4804	10	0.45353	T	0.12	-24.1752	14.832	0.70156	0.0:0.0:0.8549:0.1451	.	365	Q9P242	K1486_HUMAN	M	365	ENSP00000272907:V365M	ENSP00000272907:V365M	V	+	1	0	KIAA1486	226155470	1.000000	0.71417	0.646000	0.29493	0.311000	0.27955	5.979000	0.70508	1.108000	0.41662	-0.188000	0.12872	GTG		0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		22	109	0	0	0	1	0	22	109					A	226447226	G	A	226447226	3	1	79	1	0	0	0	0	1	0	0	0	8267	1145	40	1	1103	1	KIAA1486	2	226447226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68925	226447226	16752147	3552	13869											
KIAA1486	57624	broad.mit.edu	37	chr2	226516173	226516173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtaagctgcaaattaggCcggtctgcgtcgacgtcagg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226516173C>T	ENST00000272907.6	+	6	2267	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	618					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCAAATTAGGCCGGTCTGCGT	0.488																																						ENST00000272907.6																			0											c.(1852-1854)ggC>ggT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							176	175	175					2																	226516173		2108	4239	6347	SO:0001819	synonymous_variant	57624							g.chr2:226516173C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1854C>T	2.37:g.226516173C>T							p.G618G	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			6	2267	+			618					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1854C>T	CCDS46529.1																																																																																				0.488	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		155	761	0	0	0	1	0	155	761					T	226516173	C	T	226516173	2	4	79	1	0	0	0	0	0	0	0	1	8267	726	26	2		2	KIAA1486	2	226516173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68947	226516173	16683200	3553	13870											
IRS1	3667	broad.mit.edu	37	chr2	227660982	227660982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaaggctgggctccaGcctagccccgcagtatcccc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	825					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)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGGGCTCCAGCCTAGCCCCG	0.612																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2473-2475)Ctg>Ttg		insulin receptor substrate 1							41	50	47					2																	227660982		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660982G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2473C>T	2.37:g.227660982G>A							p.L825L	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3493	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	825						Silent	SNP	ENST00000305123.5	37	c.2473C>T	CCDS2463.1																																																																																				0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		48	640	0	0	0	1	0	48	640					A	227660982	G	A	227660982	2	1	79	1	0	0	0	0	0	0	0	1	7870	962	34	2		2	IRS1	2	227660982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1144809	227660982	15538391	3554	13871											
RHBDD1	84236	broad.mit.edu	37	chr2	227771551	227771551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggattcttgttggactAatgtacactcaagggcctct	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000341329.3	+	4	851	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000409053.1_Silent_p.L37L|RHBDD1_ENST00000392062.2_Silent_p.L203L	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	203					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGTTGGACTAATGTACACTC	0.448																																						ENST00000392062.2																			0				breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(607-609)ctA>ctG		rhomboid domain containing 1							146	150	149					2																	227771551		2203	4300	6503	SO:0001819	synonymous_variant	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227771551A>G	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.609A>G	2.37:g.227771551A>G						RHBDD1_ENST00000341329.3_Silent_p.L203L|RHBDD1_ENST00000409053.1_Silent_p.L37L	p.L203L	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	6	1133	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	203					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	c.609A>G	CCDS2464.1																																																																																				0.448	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			146	393	0	0	0	1	0	146	393					G	227771551	A	G	227771551	2	3	79	1	0	0	0	0	0	0	0	1	13366	349	13	4		4	RHBDD1	2	227771551	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110569	227771551	15427822	3555	13872											
COL4A4	1286	broad.mit.edu	37	chr2	227945157	227945157	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagaagaattctacatActggaggtcctggatcccct	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTACATACTGGAGGTCC	0.448																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.e24+1		collagen, type IV, alpha 4							107	109	108					2																	227945157		1856	4105	5961	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945157A>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1803+1T>C	2.37:g.227945157A>G						COL4A4_ENST00000329662.7_Splice_Site		NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	2011	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)						A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	ENST00000396625.3	37		CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242599	0.22796	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8654	0.35282	0.9169:0.0:0.0831:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227653401	1.000000	0.71417	0.960000	0.40013	0.030000	0.12068	5.234000	0.65343	2.269000	0.75478	0.533000	0.62120	.		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Intron	97	521	0	0	0	1	0	97	521					G	227945157	A	G	227945157	5	3	79	1	0	0	0	0	0	0	1	0	3702	405	14	4	3367	4	COL4A4	2	227945157	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173606	227945157	15254216	3556	13873											
COL4A4	1286	broad.mit.edu	37	chr2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtccaacatcccctgtttCtccatagcggccagggaacc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	380	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGTTTCTCCATAGCGG	0.527																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1138-1140)Gaa>Taa		collagen, type IV, alpha 4							47	48	48					2																	227963476		1882	4107	5989	SO:0001587	stop_gained	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227963476C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1138G>T	2.37:g.227963476C>A	ENSP00000379866:p.Glu380*					COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	19	1345	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	380			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	c.1138G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188080	0.98121	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000328553:E380X	E	-	1	0	COL4A4	227671720	1.000000	0.71417	0.988000	0.46212	0.461000	0.32589	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAA		0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		23	313	1	0	1.96895e-08	1	2.05624e-08	23	313					A	227963476	C	A	227963476	4	1	79	1	0	0	0	0	0	1	0	0	3702	922	32	3	4054	3	COL4A4	2	227963476	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18319	227963476	15235897	3557	13874											
COL4A4	1286	broad.mit.edu	37	chr2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcactttttacctttgggCcaattaatccaaatagccca	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	341	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTGGGCCAATTAATCC	0.328																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1021-1023)gGc>gTc		collagen, type IV, alpha 4							47	41	43					2																	227966227		1790	4068	5858	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227966227C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1022G>T	2.37:g.227966227C>A	ENSP00000379866:p.Gly341Val					COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	17	1229	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	341			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1022G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016752	0.54468	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.54	5.54	0.83059	.	.	.	.	.	D	0.99606	0.9857	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97902	1.0303	9	0.87932	D	0	.	15.3403	0.74290	0.0:1.0:0.0:0.0	.	341	P53420	CO4A4_HUMAN	V	341	ENSP00000379866:G341V;ENSP00000328553:G341V	ENSP00000328553:G341V	G	-	2	0	COL4A4	227674471	0.995000	0.38212	0.988000	0.46212	0.423000	0.31445	3.739000	0.55075	2.779000	0.95612	0.591000	0.81541	GGC		0.328	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		17	107	1	0	3.41278e-10	1	3.61262e-10	17	107					A	227966227	C	A	227966227	3	1	79	1	0	0	0	0	1	0	0	0	3702	739	26	3	4178	3	COL4A4	2	227966227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2751	227966227	15233146	3558	13875											
COL4A4	1286	broad.mit.edu	37	chr2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaaggaccaatgtatTtctttccactctggaaagtg	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	42	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAATGTATTTCTTTCCACT	0.408																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(124-126)aAa>aCa		collagen, type IV, alpha 4							100	97	98					2																	228004944		1912	4127	6039	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228004944T>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.125A>C	2.37:g.228004944T>G	ENSP00000379866:p.Lys42Thr					COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	4	332	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	42			7S domain.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.125A>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079944	0.76528	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91124	-2.79;-2.76	5.91	5.91	0.95273	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.32287	N	0.566803	D	0.89917	1.0	D	0.85130	0.997	D	0.90618	0.4557	9	0.37606	T	0.19	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	42	P53420	CO4A4_HUMAN	T	42	ENSP00000379866:K42T;ENSP00000328553:K42T	ENSP00000328553:K42T	K	-	2	0	COL4A4	227713188	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	2.456000	0.44997	2.254000	0.74563	0.533000	0.62120	AAA		0.408	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		21	237	0	0	0	1	0	21	237					G	228004944	T	G	228004944	3	3	79	1	0	0	0	0	1	0	0	0	3702	1841	64	4	5127	4	COL4A4	2	228004944	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38717	228004944	15194429	3559	13876											
COL4A3	1285	broad.mit.edu	37	chr2	228118353	228118354	+	Splice_Site	INS	-	-	T													actggcccagataacagaacINSggtaactctgcgattttatg					rs573527081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228118353_228118354insT	ENST00000396578.3	+	13	926_927	c.764_765insT	c.(763-768)acggac>acTggac	p.D256fs	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	256	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTGC	0.47																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.e13+1		collagen, type IV, alpha 3 (Goodpasture antigen)																																				SO:0001630	splice_region_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118353_228118354insT		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.765+1->T	2.37:g.228118353_228118354insT						AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	p.R255_splice	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	926_927	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	255			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Splice_Site	INS	ENST00000396578.3	37	c.765_splice	CCDS42829.1																																																																																				0.47	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	Frame_Shift_Ins	7	779						7	779	---	---	---	---	T	228118354	-	T	228118353	8	5	79	1	0	1	1	0	0	0	1	0	3700	550	19	0	814	0	COL4A3	2	228118353	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	113409	228118353	15081020	3560	13877											
COL4A3	1285	broad.mit.edu	37	chr2	228145242	228145242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggggaacatggagaaatTggactccctggacttccagg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	770	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGGAGAAATTGGACTCCCTG	0.502																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2308-2310)atT>atC		collagen, type IV, alpha 3 (Goodpasture antigen)							100	104	102					2																	228145242		1882	4120	6002	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228145242T>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2310T>C	2.37:g.228145242T>C						AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.I770I	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	30	2472	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	770			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.2310T>C	CCDS42829.1																																																																																				0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		134	379	0	0	0	1	0	134	379					C	228145242	T	C	228145242	2	2	79	1	0	0	0	0	0	0	0	1	3700	1800	63	4		4	COL4A3	2	228145242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26889	228145242	15054131	3561	13878											
COL4A3	1285	broad.mit.edu	37	chr2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaagtcctggaagtcCtggcctcccaggtaaggctt	12	13	0	0	rs373982111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1109	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAAGTCCTGGCCTCCCA	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3325-3327)cCt>cTt		collagen, type IV, alpha 3 (Goodpasture antigen)							45	51	49					2																	228158022		1845	4081	5926	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228158022C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3326C>T	2.37:g.228158022C>T	ENSP00000379823:p.Pro1109Leu					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.P1109L	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	38	3488	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1109			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3326C>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159271	0.38119	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.96885	-4.09;-4.16	5.73	4.81	0.61882	.	0.356519	0.24180	N	0.040801	D	0.96895	0.8986	M	0.80183	2.485	0.50039	D	0.999844	D;D;P;P	0.57257	0.979;0.979;0.944;0.954	P;P;P;P	0.52109	0.675;0.675;0.646;0.69	D	0.96731	0.9539	10	0.72032	D	0.01	.	13.3166	0.60411	0.0:0.841:0.159:0.0	.	1109;1109;1109;1109	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1109;1109;1109;1109;1109;146	ENSP00000379823:P1109L;ENSP00000302781:P146L	ENSP00000302781:P146L	P	+	2	0	COL4A3	227866266	0.751000	0.28327	0.997000	0.53966	0.967000	0.64934	1.995000	0.40767	2.868000	0.98415	0.557000	0.71058	CCT		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		55	178	0	0	0	1	0	55	178					T	228158022	C	T	228158022	3	4	79	1	0	0	0	0	1	0	0	0	3700	681	24	2	3476	2	COL4A3	2	228158022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12780	228158022	15041351	3562	13879											
MFF	56947	broad.mit.edu	37	chr2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgaaggcattagtcagCgaatgagggtcccagaaaag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	46					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(136-138)Cga>Tga		mitochondrial fission factor							89	75	79					2																	228195439		2203	4300	6503	SO:0001587	stop_gained	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195439C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.136C>T	2.37:g.228195439C>T	ENSP00000302037:p.Arg46*					MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*	p.R46*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			4	577	+			46					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Nonsense_Mutation	SNP	ENST00000353339.3	37	c.136C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138563	0.97315	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	.	.	.	5.8	4.87	0.63330	.	0.108684	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5244	13.5124	0.61519	0.3271:0.6729:0.0:0.0	.	.	.	.	X	20;20;46;20;20;20;20;20;20;20;46;20;46	.	ENSP00000304898:R20X	R	+	1	2	MFF	227903683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	2.741000	0.93983	0.650000	0.86243	CGA		0.463	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		82	240	0	0	0	1	0	82	240					T	228195439	C	T	228195439	4	4	79	1	0	0	0	0	0	1	0	0	9560	760	27	1	142	1	MFF	2	228195439	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37417	228195439	15003934	3563	13880											
MFF	56947	broad.mit.edu	37	chr2	228197205	228197205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaactccctttaaaccCctggcactgaaaacaccacc	4	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(328-330)ccC>ccT		mitochondrial fission factor							232	226	228					2																	228197205		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197205C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.330C>T	2.37:g.228197205C>T						MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P	p.P110P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			5	771	+			110					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	c.330C>T	CCDS2465.1																																																																																				0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		382	1229	0	0	0	1	0	382	1229					T	228197205	C	T	228197205	2	4	79	1	0	0	0	0	0	0	0	1	9560	610	22	2		2	MFF	2	228197205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1766	228197205	15002168	3564	13881											
MFF	56947	broad.mit.edu	37	chr2	228205077	228205077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcgccaaaatggacagCtggtcagaaatgattctctg	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	167					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(499-501)Ctg>Ttg		mitochondrial fission factor							85	78	81					2																	228205077		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205077C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.499C>T	2.37:g.228205077C>T						MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L	p.L167L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			6	940	+			167					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	c.499C>T	CCDS2465.1																																																																																				0.388	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		47	147	0	0	0	1	0	47	147					T	228205077	C	T	228205077	2	4	79	1	0	0	0	0	0	0	0	1	9560	796	28	2		2	MFF	2	228205077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7872	228205077	14994296	3565	13882											
TM4SF20	79853	broad.mit.edu	37	chr2	228230946	228230946	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatcacactgaaaagTgatgaaagaaacatctgaaa	8	6	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378																																						ENST00000304568.3																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10						c.(262-264)tcA>tcC		transmembrane 4 L six family member 20							106	102	104					2																	228230946		2203	4300	6503	SO:0001819	synonymous_variant	79853					integral to membrane|plasma membrane		g.chr2:228230946T>G	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.264A>C	2.37:g.228230946T>G							p.S88S	NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	301	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	88					B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	c.264A>C	CCDS2466.1																																																																																				0.378	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		73	192	0	0	0	1	0	73	192					G	228230946	T	G	228230946	2	3	79	1	0	0	0	0	0	0	0	1	16021	1683	59	4		4	TM4SF20	2	228230946	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25869	228230946	14968427	3566	13883											
AGFG1	3267	broad.mit.edu	37	chr2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataattttttaaagctaCgccttccacaaatccatttg	3	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.8	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	430					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1288-1290)aCg>aTg		ArfGAP with FG repeats 1							62	64	63					2																	228401620		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228401620C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1289C>T	2.37:g.228401620C>T	ENSP00000312059:p.Thr430Met					AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M	p.T430M	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			10	1549	+			430					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1289C>T	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595158	0.46318	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.88;1.9;1.84;1.83;1.9	5.97	5.97	0.96955	.	0.264991	0.43416	D	0.000579	T	0.24084	0.0583	N	0.22421	0.69	0.38870	D	0.956668	P;P;D;D	0.54772	0.945;0.954;0.968;0.968	B;P;B;B	0.45449	0.36;0.481;0.197;0.132	T	0.01352	-1.1377	10	0.33940	T	0.23	-0.4976	18.6134	0.91294	0.0:1.0:0.0:0.0	.	390;430;454;430	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	454;439;430;409;390;430	ENSP00000387282:T454M;ENSP00000312059:T430M;ENSP00000387154:T409M;ENSP00000362775:T390M;ENSP00000387218:T430M	ENSP00000312059:T430M	T	+	2	0	AGFG1	228109864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.838000	0.97847	0.591000	0.81541	ACG		0.333	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		60	331	0	0	0	1	0	60	331					T	228401620	C	T	228401620	3	4	79	1	0	0	0	0	1	0	0	0	380	536	19	1	1403	1	AGFG1	2	228401620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170674	228401620	14797753	3567	13884											
WDR69	164781	broad.mit.edu	37	chr2	228750066	228750066	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtttgtttatttctataGgaattatgttggaatatgaa	8	2	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750066G>T	ENST00000309931.2	+	2	123		c.e2-1		DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000373666.2_Splice_Site|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1							cilium (GO:0005929)											TATTTCTATAGGAATTATGTT	0.303																																						ENST00000373666.2																			0											c.e2-1		dynein assembly factor with WDR repeat domains 1							88	99	95					2																	228750066		2203	4300	6503	SO:0001630	splice_region_variant	164781							g.chr2:228750066G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.41-1G>T	2.37:g.228750066G>T						DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site								2	676	+								Q6ZRY1|Q8N776	Splice_Site	SNP	ENST00000309931.2	37		CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034524	0.75617	.	.	ENSG00000123977	ENST00000373666;ENST00000309931	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9351	0.86201	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR69	228458310	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	8.283000	0.89909	2.577000	0.86979	0.655000	0.94253	.		0.303	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Intron	6	301	1	0	5.18039e-06	1	5.32547e-06	6	301					T	228750066	G	T	228750066	5	4	79	1	0	0	0	0	0	0	1	0	17373	1014	35	3	46	3	WDR69	2	228750066	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348446	228750066	14449307	3568	13885											
WDR69	164781	broad.mit.edu	37	chr2	228750117	228750117	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattaaagactaagtccataGatttgcttgatcttggtccc	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750117G>T	ENST00000309931.2	+	2	174	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	DAW1_ENST00000545118.1_Missense_Mutation_p.D16Y|DAW1_ENST00000373666.2_Missense_Mutation_p.D31Y|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	31						cilium (GO:0005929)											TAAGTCCATAGATTTGCTTGA	0.358																																						ENST00000373666.2																			0											c.(91-93)Gat>Tat		dynein assembly factor with WDR repeat domains 1							110	113	112					2																	228750117		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228750117G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.91G>T	2.37:g.228750117G>T	ENSP00000311899:p.Asp31Tyr					DAW1_ENST00000545118.1_Missense_Mutation_p.D16Y|DAW1_ENST00000309931.2_Missense_Mutation_p.D31Y	p.D31Y							2	727	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.91G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834469	0.71373	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.72051	0.47;0.38;-0.62;0.35	5.52	5.52	0.82312	.	0.054817	0.64402	D	0.000001	D	0.86205	0.5877	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88385	0.3004	10	0.87932	D	0	.	16.9351	0.86201	0.0:0.0:1.0:0.0	.	31	Q8N136	WDR69_HUMAN	Y	31;31;16;16	ENSP00000362770:D31Y;ENSP00000311899:D31Y;ENSP00000394853:D16Y;ENSP00000437887:D16Y	ENSP00000311899:D31Y	D	+	1	0	WDR69	228458361	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	8.283000	0.89909	2.577000	0.86979	0.655000	0.94253	GAT		0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		50	292	1	0	9.57592e-29	1	1.11608e-28	50	292					T	228750117	G	T	228750117	3	4	79	1	0	0	0	0	1	0	0	0	17373	942	33	3	97	3	WDR69	2	228750117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51	228750117	14449256	3569	13886											
WDR69	164781	broad.mit.edu	37	chr2	228758521	228758521	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgttagctttatcacaGgaagctatgatcggacgtgc	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228758521G>T	ENST00000309931.2	+	5	411	c.328G>T	c.(328-330)Gga>Tga	p.G110*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.G95*|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000373666.2_Nonsense_Mutation_p.G110*	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	110						cilium (GO:0005929)											CTTTATCACAGGAAGCTATGA	0.443																																						ENST00000373666.2																			0											c.(328-330)Gga>Tga		dynein assembly factor with WDR repeat domains 1							101	92	95					2																	228758521		2203	4300	6503	SO:0001587	stop_gained	164781							g.chr2:228758521G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.328G>T	2.37:g.228758521G>T	ENSP00000311899:p.Gly110*					DAW1_ENST00000545118.1_Nonsense_Mutation_p.G95*|DAW1_ENST00000309931.2_Nonsense_Mutation_p.G110*|DAW1_ENST00000472604.1_3'UTR	p.G110*							5	964	+								Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	ENST00000309931.2	37	c.328G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	37	6.537249	0.97646	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4891	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	110;110;95	.	ENSP00000311899:G110X	G	+	1	0	WDR69	228466765	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.659000	0.91116	2.692000	0.91855	0.650000	0.86243	GGA		0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		56	175	1	0	1.04682e-39	1	1.26644e-39	56	175					T	228758521	G	T	228758521	4	4	79	1	0	0	0	0	0	1	0	0	17373	1001	35	3	346	3	WDR69	2	228758521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8404	228758521	14440852	3570	13887											
SPHKAP	80309	broad.mit.edu	37	chr2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattatcccagttccaagaGccagtcaaagagactcagtc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1696						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTCCAAGAGCCAGTCAAAG	0.438																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(5086-5088)Ctc>Atc		SPHK1 interactor, AKAP domain containing							103	91	95					2																	228846450		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846450G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5086C>A	2.37:g.228846450G>T	ENSP00000375909:p.Leu1696Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	p.L1696I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5132	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1696					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.5086C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488035	0.84854	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.064498	0.64402	D	0.000011	T	0.37571	0.1008	M	0.64260	1.97	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.909	T	0.00945	-1.1505	10	0.48119	T	0.1	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1696;1667	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1696;1667	ENSP00000375909:L1696I;ENSP00000339886:L1667I	ENSP00000339886:L1667I	L	-	1	0	SPHKAP	228554694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.773000	0.95371	0.655000	0.94253	CTC		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		64	300	1	0	2.05175e-36	1	2.45602e-36	64	300					T	228846450	G	T	228846450	3	4	79	1	0	0	0	0	1	0	0	0	15100	971	34	3	20	3	SPHKAP	2	228846450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87929	228846450	14352923	3571	13888											
SPHKAP	80309	broad.mit.edu	37	chr2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccacctctcaccacaTctgggatgtttttgtcattc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1467						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACCACATCTGGGATGTT	0.512																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4399-4401)gAt>gTt		SPHK1 interactor, AKAP domain containing							142	141	142					2																	228881170		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881170T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4400A>T	2.37:g.228881170T>A	ENSP00000375909:p.Asp1467Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4446	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1467					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4400A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502609	0.26949	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.66	2.01	0.26516	.	0.779472	0.12553	N	0.458917	T	0.11665	0.0284	L	0.60455	1.87	0.21719	N	0.999572	B;P;B	0.47409	0.059;0.895;0.216	B;B;B	0.37943	0.013;0.261;0.049	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.2171	0.15348	0.0:0.1549:0.1519:0.6932	.	498;1467;1467	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1467	ENSP00000375909:D1467V;ENSP00000339886:D1467V	ENSP00000339886:D1467V	D	-	2	0	SPHKAP	228589414	0.633000	0.27181	0.006000	0.13384	0.007000	0.05969	1.138000	0.31491	0.403000	0.25479	-1.209000	0.01634	GAT		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		213	573	0	0	0	1	0	213	573					A	228881170	T	A	228881170	3	1	79	1	0	0	0	0	1	0	0	0	15100	1435	50	5	726	5	SPHKAP	2	228881170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34720	228881170	14318203	3572	13889											
SPHKAP	80309	broad.mit.edu	37	chr2	228881439	228881439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggggctgtttacattcGgtaacagagtctttcctcgg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1377						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACATTCGGTAACAGAGT	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4129-4131)acC>acT		SPHK1 interactor, AKAP domain containing							75	78	77					2																	228881439		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881439G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4131C>T	2.37:g.228881439G>A						SPHKAP_ENST00000344657.5_Silent_p.T1377T	p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4177	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1377					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4131C>T	CCDS46537.1																																																																																				0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		101	501	0	0	0	1	0	101	501					A	228881439	G	A	228881439	2	1	79	1	0	0	0	0	0	0	0	1	15100	1103	39	1		1	SPHKAP	2	228881439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	228881439	14317934	3573	13890											
SPHKAP	80309	broad.mit.edu	37	chr2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagaccggatgaggacGcgctactgaccggctgcacg	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1280						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGATGAGGACGCGCTACTGAC	0.512																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3838-3840)gCg>gTg		SPHK1 interactor, AKAP domain containing							84	82	82					2																	228881731		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881731G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3839C>T	2.37:g.228881731G>A	ENSP00000375909:p.Ala1280Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3885	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1280					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3839C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597112	0.00857	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.08	3.98	0.46160	.	0.362355	0.31381	N	0.007752	T	0.25232	0.0613	L	0.33137	0.985	0.09310	N	0.999992	B;B;B	0.17465	0.007;0.014;0.022	B;B;B	0.11329	0.002;0.001;0.006	T	0.12319	-1.0552	10	0.15499	T	0.54	.	4.4234	0.11492	0.4415:0.0:0.5585:0.0	.	311;1280;1280	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1280	ENSP00000375909:A1280V;ENSP00000339886:A1280V	ENSP00000339886:A1280V	A	-	2	0	SPHKAP	228589975	0.002000	0.14202	0.045000	0.18777	0.002000	0.02628	1.742000	0.38248	1.503000	0.48686	0.655000	0.94253	GCG		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		36	382	0	0	0	1	0	36	382					A	228881731	G	A	228881731	3	1	79	1	0	0	0	0	1	0	0	0	15100	1087	38	1	1287	1	SPHKAP	2	228881731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292	228881731	14317642	3574	13891											
SPHKAP	80309	broad.mit.edu	37	chr2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggatactctcctcaGcctcctgggaaccacttctg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A875D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCTCCTCAGCCTCCTGGGA	0.507																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.A875D(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2623-2625)gCt>gTt		SPHK1 interactor, AKAP domain containing							504	485	491					2																	228882946		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882946G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2624C>T	2.37:g.228882946G>A	ENSP00000375909:p.Ala875Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2670	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	875					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2624C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374956	0.11409	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B;P	0.39424	0.03;0.673	B;B	0.33254	0.008;0.16	T	0.25537	-1.0129	10	0.33940	T	0.23	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	875	ENSP00000375909:A875V;ENSP00000339886:A875V	ENSP00000339886:A875V	A	-	2	0	SPHKAP	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		179	872	0	0	0	1	0	179	872					A	228882946	G	A	228882946	3	1	79	1	0	0	0	0	1	0	0	0	15100	971	34	2	2502	2	SPHKAP	2	228882946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1215	228882946	14316427	3575	13892											
SPHKAP	80309	broad.mit.edu	37	chr2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctgccacagcacatGcagaaggtacatctttatcc	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	356						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAGCACATGCAGAAGGTAC	0.433																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1066-1068)gCa>gTa		SPHK1 interactor, AKAP domain containing							147	133	137					2																	228884503		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884503G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1067C>T	2.37:g.228884503G>A	ENSP00000375909:p.Ala356Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1113	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	356					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1067C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005323	0.02112	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.79	2.54	0.30619	.	0.779787	0.12023	N	0.506731	T	0.05410	0.0143	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.002;0.009	T	0.44922	-0.9296	10	0.15066	T	0.55	.	4.9752	0.14136	0.3529:0.1553:0.4918:0.0	.	356;356	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	356	ENSP00000375909:A356V;ENSP00000339886:A356V	ENSP00000339886:A356V	A	-	2	0	SPHKAP	228592747	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.351000	0.20096	0.755000	0.32990	0.655000	0.94253	GCA		0.433	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		216	543	0	0	0	1	0	216	543					A	228884503	G	A	228884503	3	1	79	1	0	0	0	0	1	0	0	0	15100	1319	46	2	4059	2	SPHKAP	2	228884503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1557	228884503	14314870	3576	13893											
SPHKAP	80309	broad.mit.edu	37	chr2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcttacaggctgtgAtggagttccccgggccgctt	11	12	1	1	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAGGCTGTGATGGAGTTCCC	0.473																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(121-123)aTc>aCc		SPHK1 interactor, AKAP domain containing							90	96	94					2																	228996712		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228996712A>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.122T>C	2.37:g.228996712A>G	ENSP00000375909:p.Ile41Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	168	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	41					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.122T>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129324	0.37630	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36340	1.26;1.26	5.63	5.63	0.86233	.	0.151419	0.44483	D	0.000459	T	0.27524	0.0676	N	0.14661	0.345	0.39407	D	0.966687	P;P	0.47762	0.839;0.9	B;P	0.44990	0.276;0.466	T	0.14062	-1.0486	10	0.59425	D	0.04	-12.1023	12.5296	0.56106	1.0:0.0:0.0:0.0	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	41	ENSP00000375909:I41T;ENSP00000339886:I41T	ENSP00000339886:I41T	I	-	2	0	SPHKAP	228704956	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.777000	0.62361	2.281000	0.76405	0.533000	0.62120	ATC		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		55	366	0	0	0	1	0	55	366					G	228996712	A	G	228996712	3	3	79	1	0	0	0	0	1	0	0	0	15100	333	12	4	5024	4	SPHKAP	2	228996712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112209	228996712	14202661	3577	13894											
DNER	92737	broad.mit.edu	37	chr2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccctggtattcaatgCggctgatgcggcaaatcccc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	666					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTATTCAATGCGGCTGATGCG	0.542																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1996-1998)cGc>cAc		delta/notch-like EGF repeat containing							59	51	54					2																	230231694		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231694C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1997G>A	2.37:g.230231694C>T	ENSP00000345229:p.Arg666His						p.R666H	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2131	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	666					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1997G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595384	0.96602	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86097	-2.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87291	0.2299	10	0.39692	T	0.17	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	666	Q8NFT8	DNER_HUMAN	H	666;384	ENSP00000345229:R666H	ENSP00000345229:R666H	R	-	2	0	DNER	229939938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	CGC		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		21	221	0	0	0	1	0	21	221					T	230231694	C	T	230231694	3	4	79	1	0	0	0	0	1	0	0	0	4683	768	27	1	224	1	DNER	2	230231694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234982	230231694	12967679	3578	13895											
TRIP12	9320	broad.mit.edu	37	chr2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgattcaaatccatctCtgaacgaatcaaattgccta	5	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000283943.5	-	38	5703	c.5525G>T	c.(5524-5526)aGa>aTa	p.R1842I	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1842					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATCCATCTCTGAACGAATC	0.368																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5524-5526)aGa>aTa		thyroid hormone receptor interactor 12							84	83	83					2																	230636293		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230636293C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5525G>T	2.37:g.230636293C>A	ENSP00000283943:p.Arg1842Ile					TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	p.R1842I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	38	5703	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1842					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5525G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292648	0.95546	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.8;0.8;0.8	5.85	5.85	0.93711	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.41961	1.31	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.64715	-0.6342	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1572;1890;1842	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1842;1572;1890	ENSP00000283943:R1842I;ENSP00000373697:R1572I;ENSP00000373696:R1890I	ENSP00000283943:R1842I	R	-	2	0	TRIP12	230344537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.767000	0.95098	0.563000	0.77884	AGA		0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		59	251	1	0	3.28615e-30	1	3.85197e-30	59	251					A	230636293	C	A	230636293	3	1	79	1	0	0	0	0	1	0	0	0	16609	913	32	3	469	3	TRIP12	2	230636293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404599	230636293	12563080	3579	13896											
TRIP12	9320	broad.mit.edu	37	chr2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctaaagaatcatccctgCtgtgctgcaagctgggtgat	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000283943.5	-	20	3126	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	983					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCATCCCTGCTGTGCTGCAA	0.488																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2947-2949)aGc>aTc		thyroid hormone receptor interactor 12							67	59	62					2																	230667001		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230667001C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2948G>T	2.37:g.230667001C>A	ENSP00000283943:p.Ser983Ile					TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	p.S983I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	20	3126	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	983					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.2948G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311983	0.81358	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.81;1.19;0.8	5.42	5.42	0.78866	.	0.041280	0.85682	D	0.000000	T	0.32793	0.0841	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.28784	0.094;0.094;0.094	T	0.15093	-1.0449	10	0.37606	T	0.19	.	17.379	0.87399	0.0:1.0:0.0:0.0	.	713;1031;983	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	983;713;1031	ENSP00000283943:S983I;ENSP00000373697:S713I;ENSP00000373696:S1031I	ENSP00000283943:S983I	S	-	2	0	TRIP12	230375245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.521000	0.84997	0.585000	0.79938	AGC		0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		84	206	1	0	8.87156e-34	1	1.0529e-33	84	206					A	230667001	C	A	230667001	3	1	79	1	0	0	0	0	1	0	0	0	16609	797	28	3	3118	3	TRIP12	2	230667001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30708	230667001	12532372	3580	13897											
FBXO36	130888	broad.mit.edu	37	chr2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagctccagctccagCggcagctccgcaagaggaaa	10	15	0	1	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000283946.3	+	4	529	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W|FBXO36_ENST00000373652.3_Missense_Mutation_p.R140W	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCTCCAGCGGCAGCTCCG	0.552																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(418-420)Cgg>Tgg		F-box protein 36		C	TRP/ARG	0,4406		0,0,2203	36	35	35		511	4	1	2	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	no	missense	FBXO36	NM_174899.4	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	171/189	230875544	2,13004	2203	4300	6503	SO:0001583	missense	130888							g.chr2:230875544C>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.511C>T	2.37:g.230875544C>T	ENSP00000283946:p.Arg171Trp					FBXO36_ENST00000283946.3_Missense_Mutation_p.R171W|FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W	p.R140W			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	839	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	171					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.418C>T	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644135	0.67244	0.0	2.33E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.22743	1.94;1.94;1.94	4.86	3.95	0.45737	F-box domain, Skp2-like (1);	0.622148	0.14637	N	0.307472	T	0.22085	0.0532	L	0.56769	1.78	0.34736	D	0.730262	D;D	0.69078	0.997;0.994	P;P	0.44477	0.451;0.451	T	0.31861	-0.9928	10	0.40728	T	0.16	-6.2447	6.8825	0.24181	0.1827:0.7261:0.0:0.0912	.	140;171	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	W	140;171;151	ENSP00000362756:R140W;ENSP00000283946:R171W;ENSP00000386673:R151W	ENSP00000283946:R171W	R	+	1	2	FBXO36	230583788	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.779000	0.26746	0.964000	0.38108	0.511000	0.50034	CGG		0.552	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		15	149	0	0	0	1	0	15	149					T	230875544	C	T	230875544	3	4	79	1	0	0	0	0	1	0	0	0	5770	759	27	1	525	1	FBXO36	2	230875544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208543	230875544	12323829	3581	13898											
SLC16A14	151473	broad.mit.edu	37	chr2	230911293	230911293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccagccgtactctgcGcacaggtacttcagcagcac	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTACTCTGCGCACAGGTACT	0.577																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(547-549)tgC>tgT		solute carrier family 16, member 14							92	90	91					2																	230911293		2203	4300	6503	SO:0001819	synonymous_variant	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911293G>A	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.549C>T	2.37:g.230911293G>A							p.C183C	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1007	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	183					A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	c.549C>T	CCDS2473.1																																																																																				0.577	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		103	521	0	0	0	1	0	103	521					A	230911293	G	A	230911293	2	1	79	1	0	0	0	0	0	0	0	1	14457	1079	38	1		1	SLC16A14	2	230911293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35749	230911293	12288080	3582	13899											
SP110	3431	broad.mit.edu	37	chr2	231077540	231077540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtcagatgggctgggCgactcactcaggatctcatc	13	11	4	1	rs114550400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000358662.4	-	4	597	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258381.6_Silent_p.S173S	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	173			S -> L (in dbSNP:rs41552315).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18409	0.001		0.0	False		,,,				2504	0.0					ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(517-519)tcG>tcA		SP110 nuclear body protein		C	,,,	0,4406		0,0,2203	168	163	165		537,519,519,519	-6.6	0	2	dbSNP_132	165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	179/556,173/690,173/550,173/714	231077540	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231077540C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.519G>A	2.37:g.231077540C>T						SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000358662.4_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR	p.S173S	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	4	596	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	173		S -> L (in dbSNP:rs41552315).			B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.519G>A	CCDS2474.1																																																																																				0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		145	775	0	0	0	1	0	145	775					T	231077540	C	T	231077540	2	4	79	1	0	0	0	0	0	0	0	1	15011	755	27	1		1	SP110	2	231077540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166247	231077540	12121833	3583	13900											
SP140	11262	broad.mit.edu	37	chr2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggactgtcacatcccgCctgtggaagctgagaggtaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000392045.3	+	23	2272	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000343805.6_Missense_Mutation_p.P660S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	720					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACATCCCGCCTGTGGAAGC	0.547																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(2158-2160)Cct>Tct		SP140 nuclear body protein							115	125	122					2																	231174738		2186	4296	6482	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231174738C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2158C>T	2.37:g.231174738C>T	ENSP00000375899:p.Pro720Ser					SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S	p.P720S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	23	2272	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	720					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.2158C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180769	0.21787	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	2.91	0.963	0.19649	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);	.	.	.	.	D	0.86990	0.6066	L	0.52126	1.63	0.09310	N	1	D;D;D;P	0.89917	1.0;0.993;0.996;0.757	D;D;D;P	0.83275	0.996;0.968;0.986;0.457	T	0.73871	-0.3846	9	0.44086	T	0.13	-1.6218	4.0335	0.09719	0.0:0.6115:0.2464:0.1421	.	693;606;660;720	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	644;589;720;606;660;693	ENSP00000440107:P644S;ENSP00000345846:P589S;ENSP00000375899:P720S;ENSP00000342096:P660S;ENSP00000398210:P693S	ENSP00000342096:P660S	P	+	1	0	SP140	230882982	0.000000	0.05858	0.070000	0.20053	0.074000	0.17049	0.115000	0.15540	0.255000	0.21593	0.456000	0.33151	CCT		0.547	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		33	374	0	0	0	1	0	33	374					T	231174738	C	T	231174738	3	4	79	1	0	0	0	0	1	0	0	0	15012	739	26	2	2365	2	SP140	2	231174738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97198	231174738	12024635	3584	13901											
SP140L	93349	broad.mit.edu	37	chr2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagtgccagaaagccCggaagcaaggaaggaaagtg	16	6	0	2	rs183430708	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000415673.2	+	6	628	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	181						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(541-543)cCg>cTg		SP140 nuclear body protein-like		C	LEU/PRO	1,3957		0,1,1978	73	79	77		542	-2.5	0	2		77	4,8316		0,4,4156	yes	missense	SP140L	NM_138402.4	98	0,5,6134	TT,TC,CC		0.0481,0.0253,0.0407	benign	181/581	231235641	5,12273	1979	4160	6139	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231235641C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.542C>T	2.37:g.231235641C>T	ENSP00000397911:p.Pro181Leu					SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000415673.2_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L	p.P181L			Q9H930	LY10L_HUMAN			6	542	+			181					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.542C>T	CCDS46538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.96	1.498004	0.26861	2.53E-4	4.81E-4	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83914	-1.58;-1.22;-1.58;-1.78;0.79	2.26	-2.5	0.06384	.	.	.	.	.	T	0.66655	0.2811	L	0.40543	1.245	0.09310	N	1	B;B	0.26809	0.017;0.16	B;B	0.22753	0.006;0.041	T	0.52396	-0.8581	9	0.07325	T	0.83	.	4.1643	0.10300	0.2946:0.5149:0.0:0.1905	.	94;181	Q9H930-3;Q9H930-4	.;.	L	181;181;181;181;94	ENSP00000395195:P181L;ENSP00000397911:P181L;ENSP00000243810:P181L;ENSP00000379811:P181L;ENSP00000395223:P94L	ENSP00000243810:P181L	P	+	2	0	SP140L	230943885	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.520000	0.02241	-0.549000	0.06191	0.313000	0.20887	CCG		0.532	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		25	113	0	0	0	1	0	25	113					T	231235641	C	T	231235641	3	4	79	1	0	0	0	0	1	0	0	0	15013	652	23	1	564	1	SP140L	2	231235641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	231235641	11963732	3585	13902											
SP140L	93349	broad.mit.edu	37	chr2	231256917	231256917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagtgtgcgctgtggCgggtggcccctacgacggct	18	11	0	1	rs367991609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000415673.2	+	12	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000444636.1_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	360	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1078-1080)ggC>ggT		SP140 nuclear body protein-like							88	104	99					2																	231256917		2066	4195	6261	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231256917C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1080C>T	2.37:g.231256917C>T						SP140L_ENST00000396563.4_Silent_p.G325G|SP140L_ENST00000415673.2_Silent_p.G360G|SP140L_ENST00000444636.1_Silent_p.G360G	p.G360G			Q9H930	LY10L_HUMAN			12	1080	+			360			SAND.		Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.1080C>T	CCDS46538.1																																																																																				0.493	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		85	283	0	0	0	1	0	85	283					T	231256917	C	T	231256917	2	4	79	1	0	0	0	0	0	0	0	1	15013	755	27	1		1	SP140L	2	231256917	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21276	231256917	11942456	3586	13903											
SP140L	93349	broad.mit.edu	37	chr2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggtgtgccgggacggaGgggagctgttctgttgcgac	20	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000415673.2	+	15	1323	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	413						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522																																						ENST00000243810.6																			2	Substitution - Missense(2)	p.G413W(2)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1237-1239)Ggg>Agg		SP140 nuclear body protein-like							190	196	194					2																	231264881		2082	4238	6320	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264881G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1237G>A	2.37:g.231264881G>A	ENSP00000397911:p.Gly413Arg					SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000415673.2_Missense_Mutation_p.G413R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R	p.G413R			Q9H930	LY10L_HUMAN			15	1237	+			413					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1237G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848324	0.51164	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.5	2.61	0.31194	.	.	.	.	.	D	0.94611	0.8263	M	0.93062	3.375	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.962	D	0.85800	0.1373	9	0.87932	D	0	.	6.6587	0.23002	0.1347:0.0:0.8653:0.0	.	378;413	Q9H930-2;Q9H930-4	.;.	R	413;413;413;378	ENSP00000395195:G413R;ENSP00000397911:G413R;ENSP00000243810:G413R;ENSP00000379811:G378R	ENSP00000243810:G413R	G	+	1	0	SP140L	230973125	0.965000	0.33210	0.012000	0.15200	0.175000	0.22909	2.883000	0.48554	0.806000	0.34183	0.491000	0.48974	GGG		0.522	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		103	403	0	0	0	1	0	103	403					A	231264881	G	A	231264881	3	1	79	1	0	0	0	0	1	0	0	0	15013	1000	35	2	1295	2	SP140L	2	231264881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7964	231264881	11934492	3587	13904											
SP140L	93349	broad.mit.edu	37	chr2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacatcccacctgtggaaAgtgagaagtaagtgacatgc	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000415673.2	+	15	1392	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	436						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1306-1308)Agt>Ggt		SP140 nuclear body protein-like							114	118	116					2																	231264950		2090	4242	6332	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264950A>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1306A>G	2.37:g.231264950A>G	ENSP00000397911:p.Ser436Gly					SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000415673.2_Missense_Mutation_p.S436G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G	p.S436G			Q9H930	LY10L_HUMAN			15	1306	+			436					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1306A>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	a	8.272	0.813488	0.16537	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.85339	-1.64;-1.97;-1.64;-1.76	2.8	-4.25	0.03766	.	.	.	.	.	T	0.76976	0.4063	L	0.46819	1.47	0.09310	N	1	B;B	0.19331	0.035;0.03	B;B	0.23716	0.048;0.043	T	0.64411	-0.6414	9	0.66056	D	0.02	.	5.9102	0.19025	0.1977:0.0:0.6305:0.1718	.	401;436	Q9H930-2;Q9H930-4	.;.	G	436;436;436;401	ENSP00000395195:S436G;ENSP00000397911:S436G;ENSP00000243810:S436G;ENSP00000379811:S401G	ENSP00000243810:S436G	S	+	1	0	SP140L	230973194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.530000	0.02221	-0.912000	0.03837	-2.382000	0.00231	AGT		0.527	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		57	242	0	0	0	1	0	57	242					G	231264950	A	G	231264950	3	3	79	1	0	0	0	0	1	0	0	0	15013	72	3	4	1364	4	SP140L	2	231264950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	231264950	11934423	3588	13905											
SP100	6672	broad.mit.edu	37	chr2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaaacctggtccctgTacagagagtggtgtacaatg	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000341950.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	102	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(304-306)gTa>gCa		SP100 nuclear antigen							101	102	102					2																	231308927		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231308927T>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.305T>C	2.37:g.231308927T>C	ENSP00000264052:p.Val102Ala					SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A	p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	4	660	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	102			HSR.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.305T>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729837	0.30684	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.97059	0.9039	M	0.79123	2.44	0.09310	N	0.999999	D;D;D;D;D;D;P;D	0.76494	0.993;0.996;0.995;0.993;0.999;0.979;0.955;0.998	P;D;D;P;D;P;P;D	0.72625	0.907;0.932;0.944;0.775;0.978;0.779;0.858;0.948	D	0.91134	0.4940	9	0.87932	D	0	.	9.3921	0.38378	0.0:0.0:0.0:1.0	.	77;102;67;102;102;102;77;102	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	A	102;77;77;77;102;102;102;102;67	ENSP00000264052:V102A;ENSP00000399389:V77A;ENSP00000391616:V77A;ENSP00000387311:V77A;ENSP00000386404:V102A;ENSP00000386427:V102A;ENSP00000343023:V102A;ENSP00000342729:V102A;ENSP00000386998:V67A	ENSP00000264052:V102A	V	+	2	0	SP100	231017171	0.896000	0.30565	0.350000	0.25708	0.016000	0.09150	2.865000	0.48412	1.997000	0.58415	0.455000	0.32223	GTA		0.398	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		99	474	0	0	0	1	0	99	474					C	231308927	T	C	231308927	3	2	79	1	0	0	0	0	1	0	0	0	15010	1638	57	4	319	4	SP100	2	231308927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43977	231308927	11890446	3589	13906											
SP100	6672	broad.mit.edu	37	chr2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaagatatggcaaaggCggacaaggcccattatgaaa	11	6	0	3	rs566762218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	740					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20354	0.0		0.001	False		,,,				2504	0.0					ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2218-2220)gCg>gTg		SP100 nuclear antigen							49	53	52					2																	231379934		2203	4298	6501	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379934C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2219C>T	2.37:g.231379934C>T	ENSP00000264052:p.Ala740Val					SP100_ENST00000340126.4_Intron	p.A740V	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2574	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	740					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2219C>T	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466350	0.26335	.	.	ENSG00000067066	ENST00000264052	T	0.15139	2.45	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.14270	0.0345	L	0.54908	1.71	0.80722	D	1	B	0.23377	0.084	B	0.13407	0.009	T	0.06899	-1.0801	9	0.59425	D	0.04	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	740	P23497	SP100_HUMAN	V	740	ENSP00000264052:A740V	ENSP00000264052:A740V	A	+	2	0	SP100	231088178	0.770000	0.28543	0.015000	0.15790	0.015000	0.08874	0.844000	0.27654	0.202000	0.20498	0.205000	0.17691	GCG		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		81	431	0	0	0	1	0	81	431					T	231379934	C	T	231379934	3	4	79	1	0	0	0	0	1	0	0	0	15010	768	27	1	2317	1	SP100	2	231379934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71007	231379934	11819439	3590	13907											
SP100	6672	broad.mit.edu	37	chr2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagggcccacagaagCccatgtggttaaacaaagtc	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458																																						ENST00000340126.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2434-2436)Ccc>Tcc		SP100 nuclear antigen							92	90	90					2																	231406637		1887	4114	6001	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406637C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2434C>T	2.37:g.231406637C>T	ENSP00000343023:p.Pro812Ser					AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	p.P812S	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	28	2465	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	0					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2434C>T	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.06|14.06	2.421720|2.421720	0.43020|0.43020	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|D	.|0.82255	.|-1.59	4.13|4.13	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.79828|0.79828	0.4513|0.4513	M|M	0.74389|0.74389	2.26|2.26	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.20550	.|0.021;0.046	.|B;B	.|0.21360	.|0.012;0.034	T|T	0.69702|0.69702	-0.5074|-0.5074	5|9	.|0.62326	.|D	.|0.03	.|.	7.852|7.852	0.29459|0.29459	0.0:0.393:0.0:0.607|0.0:0.393:0.0:0.607	.|.	.|282;812	.|E9PHN1;P23497-4	.|.;.	V|S	185|812;282	.|ENSP00000343023:P812S	.|ENSP00000343023:P812S	A|P	+|+	2|1	0|0	SP100|SP100	231114881|231114881	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	0.029000|0.029000	0.13666|0.13666	-0.279000|-0.279000	0.09167|0.09167	-0.136000|-0.136000	0.14681|0.14681	GCC|CCC		0.458	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		54	250	0	0	0	1	0	54	250					T	231406637	C	T	231406637	3	4	79	1	0	0	0	0	1	0	0	0	15010	739	26	2	3094	2	SP100	2	231406637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26703	231406637	11792736	3591	13908											
CAB39	51719	broad.mit.edu	37	chr2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagaagacaaattggtaCgagaactcctactgttgaat	8	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	112					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CAAATTGGTACGAGAACTCCT	0.328																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(334-336)aCg>aTg		calcium binding protein 39							123	122	122					2																	231657983		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231657983C>T	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.335C>T	2.37:g.231657983C>T	ENSP00000258418:p.Thr112Met					CAB39_ENST00000410084.3_Missense_Mutation_p.T112M|CAB39_ENST00000409788.3_Missense_Mutation_p.T112M	p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	4	764	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	112					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.335C>T	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895363	0.91962	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.30714	1.52;1.52;1.52	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	P	0.53450	0.726	T	0.63866	-0.6540	10	0.72032	D	0.01	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	112	Q9Y376	CAB39_HUMAN	M	112	ENSP00000258418:T112M;ENSP00000386238:T112M;ENSP00000386642:T112M	ENSP00000258418:T112M	T	+	2	0	CAB39	231366227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.873000	0.98535	0.563000	0.77884	ACG		0.328	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		28	339	0	0	0	1	0	28	339					T	231657983	C	T	231657983	3	4	79	1	0	0	0	0	1	0	0	0	2532	536	19	1	345	1	CAB39	2	231657983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251346	231657983	11541390	3592	13909											
PSMD1	5707	broad.mit.edu	37	chr2	231927223	231927223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaatttctttcagagaGgttttatacgaagatgaagg	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(136-138)gaG>gaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						75	80	78					2																	231927223		2203	4299	6502	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927223G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.138G>A	2.37:g.231927223G>A						PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	300	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	46					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.138G>A	CCDS2482.1																																																																																				0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			75	422	0	0	0	1	0	75	422					A	231927223	G	A	231927223	2	1	79	1	0	0	0	0	0	0	0	1	12739	991	35	2		2	PSMD1	2	231927223	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269240	231927223	11272150	3593	13910											
PSMD1	5707	broad.mit.edu	37	chr2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtttgcagccttagtgGcatctaaagtattttatcac	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T|PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(190-192)Gca>Aca		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						91	95	94					2																	231927275		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927275G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.190G>A	2.37:g.231927275G>A	ENSP00000309474:p.Ala64Thr					PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T|PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T	p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	352	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	64					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.190G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640935	0.96693	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	P;D	0.58268	0.691;0.982	B;P	0.47470	0.259;0.548	T	0.45249	-0.9274	10	0.48119	T	0.1	-5.3206	20.6634	0.99662	0.0:0.0:1.0:0.0	.	64;64	Q99460;Q99460-2	PSMD1_HUMAN;.	T	64	ENSP00000309474:A64T;ENSP00000362738:A64T;ENSP00000386932:A64T	ENSP00000309474:A64T	A	+	1	0	PSMD1	231635519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA		0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			146	438	0	0	0	1	0	146	438					A	231927275	G	A	231927275	3	1	79	1	0	0	0	0	1	0	0	0	12739	1203	42	2	204	2	PSMD1	2	231927275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	231927275	11272098	3594	13911											
HTR2B	3357	broad.mit.edu	37	chr2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcacacaagtgatatTgtttgggttgtccacatcag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	204					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CAAGTGATATTGTTTGGGTTG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(610-612)Aat>Cat		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						110	99	103					2																	231974067		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231974067T>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.610A>C	2.37:g.231974067T>G	ENSP00000258400:p.Asn204His					PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron	p.N204H	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1122	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	204					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.610A>C	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257398	0.80246	.	.	ENSG00000135914	ENST00000258400	T	0.32988	1.43	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.080696	0.85682	D	0.000000	T	0.51381	0.1671	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.48725	-0.9010	10	0.49607	T	0.09	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	19;204	B3VRC5;P41595	.;5HT2B_HUMAN	H	204	ENSP00000258400:N204H	ENSP00000258400:N204H	N	-	1	0	HTR2B	231682311	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.484000	0.81180	2.186000	0.69663	0.533000	0.62120	AAT		0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		101	283	0	0	0	1	0	101	283					G	231974067	T	G	231974067	3	3	79	1	0	0	0	0	1	0	0	0	7472	1812	63	4	839	4	HTR2B	2	231974067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46792	231974067	11225306	3595	13912											
PSMD1	5707	broad.mit.edu	37	chr2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatccagcagactgaaAtcacttgtccaaaggtgagc	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	701					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2101-2103)Atc>Ctc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						102	95	98					2																	232011056		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232011056A>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2101A>C	2.37:g.232011056A>C	ENSP00000309474:p.Ile701Leu					PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	18	2263	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	701					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.2101A>C	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955218	0.53293	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.054170	0.85682	D	0.000000	T	0.18257	0.0438	N	0.08118	0	0.52501	D	0.999955	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.04053	-1.0981	10	0.48119	T	0.1	-12.4273	14.2797	0.66202	1.0:0.0:0.0:0.0	.	701;701	Q99460;Q99460-2	PSMD1_HUMAN;.	L	701	ENSP00000309474:I701L;ENSP00000362738:I701L;ENSP00000386932:I701L	ENSP00000309474:I701L	I	+	1	0	PSMD1	231719300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.073000	0.62155	0.454000	0.30748	ATC		0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			133	427	0	0	0	1	0	133	427					C	232011056	A	C	232011056	3	2	79	1	0	0	0	0	1	0	0	0	12739	101	4	4	2171	4	PSMD1	2	232011056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36989	232011056	11188317	3596	13913											
PSMD1	5707	broad.mit.edu	37	chr2	232030716	232030716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccggagacctgtagataCcagcctttcaaaccagtaag	9	11	1	2	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	ENST00000308696.6	+	23	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_ENST00000409643.1_Silent_p.Y869Y|PSMD1_ENST00000373635.4_Silent_p.Y869Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	900					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCTGTAGATACCAGCCTTTCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17246	0.0		0.001	False		,,,				2504	0.0					ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2698-2700)taC>taT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)	C	,	1,4405	2.1+/-5.4	0,1,2202	118	117	117		2607,2700	6.1	1	2	dbSNP_134	117	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	PSMD1	NM_001191037.1,NM_002807.3	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	869/923,900/954	232030716	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232030716C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2700C>T	2.37:g.232030716C>T						PSMD1_ENST00000409643.1_Silent_p.Y869Y|PSMD1_ENST00000373635.4_Silent_p.Y869Y	p.Y900Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	23	2862	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	900					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.2700C>T	CCDS2482.1																																																																																				0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			37	445	0	0	0	1	0	37	445					T	232030716	C	T	232030716	2	4	79	1	0	0	0	0	0	0	0	1	12739	518	18	2		2	PSMD1	2	232030716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19660	232030716	11168657	3597	13914											
ARMC9	80210	broad.mit.edu	37	chr2	232104717	232104717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaccagatgcggcagaGcctggcgcatagtgtggact	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232104717G>A	ENST00000349938.4	+	9	1036	c.842G>A	c.(841-843)aGc>aAc	p.S281N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	281						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGCGGCAGAGCCTGGCGCAT	0.557																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(841-843)aGc>aAc		armadillo repeat containing 9							78	61	67					2																	232104717		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104717G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.842G>A	2.37:g.232104717G>A	ENSP00000258417:p.Ser281Asn					ARMC9_ENST00000483477.1_3'UTR	p.S281N	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1036	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	281					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.842G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338376	0.60963	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.19806	2.12	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.45581	1.43	0.47862	D	0.999537	P	0.49090	0.919	P	0.48704	0.587	T	0.01238	-1.1409	10	0.25106	T	0.35	-6.727	13.8461	0.63468	0.0:0.1525:0.8475:0.0	.	281	Q7Z3E5	ARMC9_HUMAN	N	281;281;35	ENSP00000258417:S281N	ENSP00000258417:S281N	S	+	2	0	ARMC9	231812961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.309000	0.77851	0.561000	0.74099	AGC		0.557	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		5	141	0	0	0	1	0	5	141					A	232104717	G	A	232104717	3	1	79	1	0	0	0	0	1	0	0	0	959	971	34	2	872	2	ARMC9	2	232104717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74001	232104717	11094656	3598	13915											
B3GNT7	93010	broad.mit.edu	37	chr2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctacggcgacatcctgCagtggggctttctcgacacc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGACATCCTGCAGTGGGGCTT	0.602																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(613-615)Cag>Tag		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							84	94	91					2																	232263043		2138	4241	6379	SO:0001587	stop_gained	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263043C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.613C>T	2.37:g.232263043C>T	ENSP00000287590:p.Gln205*						p.Q205*	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	874	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	205					B3KWY4|B7WNP0	Nonsense_Mutation	SNP	ENST00000287590.5	37	c.613C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	38	6.822400	0.97865	.	.	ENSG00000156966	ENST00000287590	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.7321	0.88380	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000287590:Q205X	Q	+	1	0	B3GNT7	231971287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.431000	0.82371	0.655000	0.94253	CAG		0.602	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		183	457	0	0	0	1	0	183	457					T	232263043	C	T	232263043	4	4	79	1	0	0	0	0	0	1	0	0	1263	711	25	2	619	2	B3GNT7	2	232263043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158326	232263043	10936330	3599	13916											
NCL	4691	broad.mit.edu	37	chr2	232319942	232319944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccttgtggcttgtggtcaCctcctcctcctctgcctcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232319942_232319944delCCT	ENST00000322723.4	-	14	2331_2333	c.2091_2093delAGG	c.(2089-2094)ggaggt>ggt	p.697_698GG>G	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	697	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(2089-2094)ggt>gg		nucleolin																																				SO:0001651	inframe_deletion	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232319942_232319944delCCT		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2091_2093delAGG	2.37:g.232319951_232319953delCCT	ENSP00000318195:p.Gly698del						p.GG697del	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	14	2331_2333	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	697			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	ENST00000322723.4	37	c.2091_2093delAGG	CCDS33397.1																																																																																				0.498	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	730						8	730	---	---	---	---	-	232319944	CCT	-	232319942	7	5	79	1	0	1	0	1	0	0	0	0	10268	507	18	0	43	0	NCL	2	232319942	In_Frame_Del	DEL	CCT	TCGA-IB-7651-01A-11D-2154-08	56899	232319942	10879431	3600	13917											
NMUR1	10316	broad.mit.edu	37	chr2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtatctggacctggctgCtgcagagcccctgcccttgg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	276					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GACCTGGCTGCTGCAGAGCCC	0.637																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(826-828)Gca>Tca		neuromedin U receptor 1							43	42	42					2																	232392906		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232392906C>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.826G>T	2.37:g.232392906C>A	ENSP00000305877:p.Ala276Ser						p.A276S	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	959	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	276					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.826G>T	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489353	0.04352	.	.	ENSG00000171596	ENST00000305141	T	0.34859	1.34	2.43	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	485.990000	0.01751	U	0.029957	T	0.19927	0.0479	N	0.25992	0.78	0.09310	N	1	B	0.31949	0.348	B	0.27380	0.079	T	0.05632	-1.0873	10	0.09084	T	0.74	.	3.722	0.08460	0.0:0.2798:0.4085:0.3117	.	276	Q9HB89	NMUR1_HUMAN	S	276	ENSP00000305877:A276S	ENSP00000305877:A276S	A	-	1	0	NMUR1	232101150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	-0.320000	0.08640	-0.390000	0.06520	GCA		0.637	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		12	256	1	0	6.40141e-05	1	6.5221e-05	12	256					A	232392906	C	A	232392906	3	1	79	1	0	0	0	0	1	0	0	0	10548	797	28	3	462	3	NMUR1	2	232392906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72964	232392906	10806467	3601	13918											
C2orf57	165100	broad.mit.edu	37	chr2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggccccacaccctgaagCtgaagctttaccatctgatg	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577																																						ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(619-621)gCt>gAt		chromosome 2 open reading frame 57							144	140	142					2																	232458282		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458282C>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.620C>A	2.37:g.232458282C>A	ENSP00000315557:p.Ala207Asp						p.A207D	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	708	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	207					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.620C>A	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.185264	0.38609	.	.	ENSG00000177673	ENST00000313965	T	0.20069	2.1	3.96	-1.64	0.08318	.	2.133630	0.02561	N	0.096744	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.07046	-1.0793	10	0.62326	D	0.03	.	0.3447	0.00339	0.2795:0.2725:0.2342:0.2138	.	207	Q53QW1	CB057_HUMAN	D	207	ENSP00000315557:A207D	ENSP00000315557:A207D	A	+	2	0	C2orf57	232166526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.142000	0.16096	-0.509000	0.06532	0.563000	0.77884	GCT		0.577	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		186	391	1	0	1.73986e-79	1	2.2239e-79	186	391					A	232458282	C	A	232458282	3	1	79	1	0	0	0	0	1	0	0	0	2185	797	28	3	622	3	C2orf57	2	232458282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65376	232458282	10741091	3602	13919											
ALPP	250	broad.mit.edu	37	chr2	233244473	233244473	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgacctctgacacccttaGggaagtcagtgggagtggta	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental						dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACACCCTTAGGGAAGTCAGT	0.617																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.e5-1		alkaline phosphatase, placental							56	55	55					2																	233244473		2203	4300	6503	SO:0001630	splice_region_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244473G>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.485-1G>T	2.37:g.233244473G>T						AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	753	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)						P05188|P06861|Q53S78|Q96DB7	Splice_Site	SNP	ENST00000392027.2	37		CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017697	0.19355	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPP	232952717	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	5.970000	0.70431	1.289000	0.44618	0.298000	0.19748	.		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	Intron	58	174	1	0	2.17126e-26	1	2.5019e-26	58	174					T	233244473	G	T	233244473	5	4	79	1	0	0	0	0	0	0	1	0	548	1014	35	3	502	3	ALPP	2	233244473	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	786191	233244473	9954900	3603	13920											
ALPP	250	broad.mit.edu	37	chr2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggggtgccaggacatcGctacgcagctcatctccaac	12	13	2	0	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.001					ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(625-627)Gct>Act		alkaline phosphatase, placental							69	70	70					2																	233244614		2203	4299	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244614G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.625G>A	2.37:g.233244614G>A	ENSP00000375881:p.Ala209Thr					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.A209T	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	894	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	209					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.625G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT		0.682	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		23	483	0	0	0	1	0	23	483					A	233244614	G	A	233244614	3	1	79	1	0	0	0	0	1	0	0	0	548	1087	38	1	643	1	ALPP	2	233244614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	233244614	9954759	3604	13921											
ALPP	250	broad.mit.edu	37	chr2	233244978	233244978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgactacagccaaggtgGgaccaggctggacgggaaga	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244978G>A	ENST00000392027.2	+	6	1009	c.740G>A	c.(739-741)gGg>gAg	p.G247E	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	247					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G247V(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCCAAGGTGGGACCAGGCTG	0.627																																						ENST00000392027.2																			1	Substitution - Missense(1)	p.G247V(1)	lung(1)	NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(739-741)gGg>gAg		alkaline phosphatase, placental							106	102	103					2																	233244978		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244978G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.740G>A	2.37:g.233244978G>A	ENSP00000375881:p.Gly247Glu					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.G247E	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	1009	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	247					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.740G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	17.53	3.412497	0.62511	.	.	ENSG00000163283	ENST00000392027	D	0.98926	-5.24	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.116221	0.64402	D	0.000010	D	0.99158	0.9709	M	0.91140	3.18	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.99091	1.0840	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	247	P05187	PPB1_HUMAN	E	247	ENSP00000375881:G247E	ENSP00000375881:G247E	G	+	2	0	ALPP	232953222	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	6.965000	0.76067	1.289000	0.44618	0.298000	0.19748	GGG		0.627	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		89	789	0	0	0	1	0	89	789					A	233244978	G	A	233244978	3	1	79	1	0	0	0	0	1	0	0	0	548	1232	43	2	762	2	ALPP	2	233244978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	233244978	9954395	3605	13922											
ALPPL2	251	broad.mit.edu	37	chr2	233273059	233273059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgactacagccaaggtgGgaccaggctggacgggaaga	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233273059G>A	ENST00000295453.3	+	6	783	c.731G>A	c.(730-732)gGg>gAg	p.G244E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	244					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AGCCAAGGTGGGACCAGGCTG	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(730-732)gGg>gAg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						84	89	87					2																	233273059		2203	4299	6502	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273059G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.731G>A	2.37:g.233273059G>A	ENSP00000295453:p.Gly244Glu						p.G244E	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	783	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.731G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.550576	0.65311	.	.	ENSG00000163286	ENST00000295453	D	0.98926	-5.24	2.85	2.85	0.33270	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.116221	0.64402	D	0.000010	D	0.99158	0.9709	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	.	14.1121	0.65129	0.0:0.0:1.0:0.0	.	244	P10696	PPBN_HUMAN	E	244	ENSP00000295453:G244E	ENSP00000295453:G244E	G	+	2	0	ALPPL2	232981303	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	8.984000	0.93482	1.572000	0.49736	0.411000	0.27672	GGG		0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		14	653	0	0	0	1	0	14	653					A	233273059	G	A	233273059	3	1	79	1	0	0	0	0	1	0	0	0	549	1232	43	2	753	2	ALPPL2	2	233273059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28081	233273059	9926314	3606	13923											
ALPPL2	251	broad.mit.edu	37	chr2	233274394	233274394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcacctggttcacggcGtgcaggagcagaccttcata	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	ENST00000295453.3	+	11	1463	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	471					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGTTCACGGCGTGCAGGAGCA	0.721																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1411-1413)Gtg>Atg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						16	19	18					2																	233274394		2190	4277	6467	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274394G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1411G>A	2.37:g.233274394G>A	ENSP00000295453:p.Val471Met						p.V471M	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1463	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	471					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1411G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937348	0.52972	.	.	ENSG00000163286	ENST00000295453	D	0.96334	-3.98	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.88241	2.94	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	12.4169	0.55498	0.0:0.0:1.0:0.0	.	471	P10696	PPBN_HUMAN	M	471	ENSP00000295453:V471M	ENSP00000295453:V471M	V	+	1	0	ALPPL2	232982638	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	6.982000	0.76173	1.410000	0.46936	0.205000	0.17691	GTG		0.721	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		33	123	0	0	0	1	0	33	123					A	233274394	G	A	233274394	3	1	79	1	0	0	0	0	1	0	0	0	549	1145	40	1	1453	1	ALPPL2	2	233274394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	233274394	9924979	3607	13924											
ALPPL2	251	broad.mit.edu	37	chr2	233274417	233274417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcagaccttcatagcGcacgtcatggccttcgccgc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCTTCATAGCGCACGTCATGG	0.751																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1432-1434)gcG>gcA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						15	18	17					2																	233274417		2184	4280	6464	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274417G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1434G>A	2.37:g.233274417G>A							p.A478A	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1486	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	478					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1434G>A	CCDS2491.1																																																																																				0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		44	134	0	0	0	1	0	44	134					A	233274417	G	A	233274417	2	1	79	1	0	0	0	0	0	0	0	1	549	1074	38	1		1	ALPPL2	2	233274417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	233274417	9924956	3608	13925											
ALPPL2	251	broad.mit.edu	37	chr2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcacgtcatggccttcGccgcctgcctggagccctac	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CATGGCCTTCGCCGCCTGCCT	0.751																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1450-1452)Gcc>Acc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						13	16	15					2																	233274433		2183	4267	6450	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274433G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1450G>A	2.37:g.233274433G>A	ENSP00000295453:p.Ala484Thr						p.A484T	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1502	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	484					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1450G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC		0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		46	118	0	0	0	1	0	46	118					A	233274433	G	A	233274433	3	1	79	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	233274433	9924940	3609	13926											
ALPI	248	broad.mit.edu	37	chr2	233321075	233321075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgaggaggagaacccGgccttctggaaccgccaggc	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	28					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(82-84)ccG>ccA		alkaline phosphatase, intestinal							64	69	67					2																	233321075		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321075G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.84G>A	2.37:g.233321075G>A							p.P28P	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	161	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	28					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.84G>A	CCDS2492.1																																																																																				0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		64	343	0	0	0	1	0	64	343					A	233321075	G	A	233321075	2	1	79	1	0	0	0	0	0	0	0	1	543	1103	39	1		1	ALPI	2	233321075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46642	233321075	9878298	3610	13927											
ALPI	248	broad.mit.edu	37	chr2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgcccacggtgacagCcaccaggatcctaaaggggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	70					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(208-210)gCc>gTc		alkaline phosphatase, intestinal							37	39	38					2																	233321314		2203	4299	6502	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321314C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.209C>T	2.37:g.233321314C>T	ENSP00000295463:p.Ala70Val						p.A70V	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	3	286	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	70					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.209C>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111299	0.77210	.	.	ENSG00000163295	ENST00000295463	D	0.97772	-4.53	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108147	0.64402	D	0.000007	D	0.99184	0.9717	H	0.95745	3.715	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	70	P09923	PPBI_HUMAN	V	70	ENSP00000295463:A70V	ENSP00000295463:A70V	A	+	2	0	ALPI	233029558	1.000000	0.71417	0.758000	0.31321	0.178000	0.23041	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	GCC		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		26	144	0	0	0	1	0	26	144					T	233321314	C	T	233321314	3	4	79	1	0	0	0	0	1	0	0	0	543	739	26	2	219	2	ALPI	2	233321314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	233321314	9878059	3611	13928											
ALPI	248	broad.mit.edu	37	chr2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcacacacagtgaaccGcaactggtactcagatgctg	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	185					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(553-555)cGc>cAc		alkaline phosphatase, intestinal							86	85	85					2																	233321938		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321938G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.554G>A	2.37:g.233321938G>A	ENSP00000295463:p.Arg185His						p.R185H	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	631	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	185					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.554G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013703	0.93404	.	.	ENSG00000163295	ENST00000295463	D	0.98876	-5.2	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99884	4.89	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.97130	0.9817	10	0.87932	D	0	.	18.7561	0.91833	0.0:0.0:1.0:0.0	.	185	P09923	PPBI_HUMAN	H	185	ENSP00000295463:R185H	ENSP00000295463:R185H	R	+	2	0	ALPI	233030182	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.552000	0.82192	2.757000	0.94681	0.561000	0.74099	CGC		0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		100	510	0	0	0	1	0	100	510					A	233321938	G	A	233321938	3	1	79	1	0	0	0	0	1	0	0	0	543	1087	38	1	572	1	ALPI	2	233321938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	233321938	9877435	3612	13929											
ECEL1	9427	broad.mit.edu	37	chr2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttccctgagcggtcatActggccccctgtgggcagtg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	625					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCGGTCATACTGGCCCCCT	0.647																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1873-1875)Tat>Cat		endothelin converting enzyme-like 1							54	52	52					2																	233346332		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346332A>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1873T>C	2.37:g.233346332A>G	ENSP00000302051:p.Tyr625His					ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	p.Y625H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2083	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	625					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1873T>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992763	0.74703	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.84070	-1.8;-1.8;-1.8	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061993	0.64402	D	0.000002	D	0.92355	0.7574	M	0.92317	3.295	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.75020	0.931;0.985	D	0.93309	0.6683	10	0.87932	D	0	0.4595	12.7306	0.57195	0.8626:0.1374:0.0:0.0	.	623;625	O95672-2;O95672	.;ECEL1_HUMAN	H	40;625;623	ENSP00000412683:Y40H;ENSP00000302051:Y625H;ENSP00000386333:Y623H	ENSP00000302051:Y625H	Y	-	1	0	ECEL1	233054576	1.000000	0.71417	0.904000	0.35570	0.965000	0.64279	7.440000	0.80464	0.988000	0.38734	0.456000	0.33151	TAT		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		51	226	0	0	0	1	0	51	226					G	233346332	A	G	233346332	3	3	79	1	0	0	0	0	1	0	0	0	4907	391	14	4	474	4	ECEL1	2	233346332	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24394	233346332	9853041	3613	13930											
ECEL1	9427	broad.mit.edu	37	chr2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcctcaccccagtcgtCgtagccgtgggtcagctcat	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	619					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGTCGTCGTAGCCGTGG	0.667																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1855-1857)Gac>Aac		endothelin converting enzyme-like 1							83	76	78					2																	233346501		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346501C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1855G>A	2.37:g.233346501C>T	ENSP00000302051:p.Asp619Asn					ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	p.D619N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	13	2065	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	619					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1855G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304761	0.95601	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.89939	-2.59;-2.59;-2.59	5.54	5.54	0.83059	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.049237	0.85682	D	0.000000	D	0.97216	0.9090	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.98643	1.0676	10	0.87932	D	0	-5.4806	19.5428	0.95281	0.0:1.0:0.0:0.0	.	617;619	O95672-2;O95672	.;ECEL1_HUMAN	N	34;619;617	ENSP00000412683:D34N;ENSP00000302051:D619N;ENSP00000386333:D617N	ENSP00000302051:D619N	D	-	1	0	ECEL1	233054745	1.000000	0.71417	0.921000	0.36526	0.925000	0.55904	7.704000	0.84595	2.615000	0.88500	0.558000	0.71614	GAC		0.667	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		130	417	0	0	0	1	0	130	417					T	233346501	C	T	233346501	3	4	79	1	0	0	0	0	1	0	0	0	4907	884	31	1	496	1	ECEL1	2	233346501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	233346501	9852872	3614	13931											
ECEL1	9427	broad.mit.edu	37	chr2	233349192	233349192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccataccggtggggtgTggagcggatgagctgcgaca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233349192T>C	ENST00000304546.1	-	6	1384	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	392					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGTGGGGTGTGGAGCGGATG	0.587																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1174-1176)Aca>Gca		endothelin converting enzyme-like 1							110	108	109					2																	233349192		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349192T>C	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1174A>G	2.37:g.233349192T>C	ENSP00000302051:p.Thr392Ala					ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1384	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	392					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1174A>G	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613340	0.66672	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.77750	-1.12;-1.12	5.73	4.55	0.56014	Peptidase M13 (1);	0.210096	0.48767	N	0.000178	D	0.83769	0.5326	M	0.76727	2.345	0.58432	D	0.999999	D;B	0.58268	0.982;0.271	P;B	0.55087	0.768;0.207	D	0.84668	0.0710	10	0.59425	D	0.04	-11.6338	13.0361	0.58873	0.0:0.0:0.1346:0.8654	.	392;392	O95672-2;O95672	.;ECEL1_HUMAN	A	392	ENSP00000302051:T392A;ENSP00000386333:T392A	ENSP00000302051:T392A	T	-	1	0	ECEL1	233057436	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.327000	0.65881	0.980000	0.38523	0.456000	0.33151	ACA		0.587	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		13	963	0	0	0	1	0	13	963					C	233349192	T	C	233349192	3	2	79	1	0	0	0	0	1	0	0	0	4907	1696	59	4	1205	4	ECEL1	2	233349192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	233349192	9850181	3615	13932											
CHRND	1144	broad.mit.edu	37	chr2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctacctcatcatccgcCgcaagcccctcttctacatc	3	20	5	0	rs376642208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CATCATCCGCCGCAAGCCCCT	0.612																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(730-732)Cgc>Tgc		cholinergic receptor, nicotinic, delta (muscle)		C	CYS/ARG	0,4406		0,0,2203	175	144	155		730	4.3	1	2		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRND	NM_000751.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/518	233394759	1,13005	2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394759C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.730C>T	2.37:g.233394759C>T	ENSP00000258385:p.Arg244Cys					CHRND_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	p.R244C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	762	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.730C>T	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940607|3.940607	0.73557|0.73557	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|D;D	0.75050|0.96830	-0.9|-4.14;-4.14	5.18|5.18	4.26|4.26	0.50523|0.50523	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.048932	.|0.85682	.|D	.|0.000000	D|D	0.98896|0.98896	0.9626|0.9626	H|H	0.98577|0.98577	4.27|4.27	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	0.98858|0.98858	1.0761|1.0761	7|10	0.56958|0.87932	D|D	0.05|0	.|.	15.7298|15.7298	0.77792|0.77792	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	.|229;244;244	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	L|C	207|229;244	ENSP00000437740:P207L|ENSP00000438380:R229C;ENSP00000258385:R244C	ENSP00000408819:P207L|ENSP00000258385:R244C	P|R	+|+	2|1	0|0	CHRND|CHRND	233103003|233103003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.975000|1.975000	0.40569|0.40569	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			130	522	0	0	0	1	0	130	522					T	233394759	C	T	233394759	3	4	79	1	0	0	0	0	1	0	0	0	3403	652	23	1	756	1	CHRND	2	233394759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45567	233394759	9804614	3616	13933											
KCNJ13	3769	broad.mit.edu	37	chr2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattccccaagcatctcgaaGatatgcaagacctctttgag	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000233826.3	-	2	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	41					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GCATCTCGAAGATATGCAAGA	0.483																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(121-123)Ctt>Ttt		potassium inwardly-rectifying channel, subfamily J, member 13							161	143	149					2																	233635952		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635952G>A	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.121C>T	2.37:g.233635952G>A	ENSP00000233826:p.Leu41Phe					KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron	p.L41F	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	260	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	41					A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.121C>T	CCDS2498.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589267|3.589267	0.66105|0.66105	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.54|5.54	4.66|4.66	0.58398|0.58398	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.75020|.	0.985;0.88|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	14.3369|14.3369	0.66598|0.66598	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	41;41|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	F|F	41|8	ENSP00000233826:L41F;ENSP00000386408:L41F;ENSP00000386251:L41F|.	ENSP00000233826:L41F|.	L|S	-|-	1|2	0|0	KCNJ13|KCNJ13	233344196|233344196	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	4.747000|4.747000	0.62141|0.62141	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CTT|TCT		0.483	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		93	276	0	0	0	1	0	93	276					A	233635952	G	A	233635952	3	1	79	1	0	0	0	0	1	0	0	0	8077	942	33	2	969	2	KCNJ13	2	233635952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241193	233635952	9563421	3617	13934											
GIGYF2	26058	broad.mit.edu	37	chr2	233715097	233715097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaaagcagaagatggtCcgagcagatcccagtttatt	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000409547.1	+	30	4121	c.3810C>T	c.(3808-3810)gtC>gtT	p.V1270V	GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1270					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGATGGTCCGAGCAGATC	0.458																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3874-3876)gtC>gtT		GRB10 interacting GYF protein 2							155	134	141					2																	233715097		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233715097C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3810C>T	2.37:g.233715097C>T						GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409547.1_Silent_p.V1270V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	p.V1292V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	29	4073	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1270					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3876C>T	CCDS33401.1																																																																																				0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		10	283	0	0	0	1	0	10	283					T	233715097	C	T	233715097	2	4	79	1	0	0	0	0	0	0	0	1	6407	842	30	2		2	GIGYF2	2	233715097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79145	233715097	9484276	3618	13935											
INPP5D	3635	broad.mit.edu	37	chr2	234085994	234085994	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgtcagtcttatggTgagttcaaacactggggaaa	14	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.e20+2		inositol polyphosphate-5-phosphatase, 145kDa							135	134	134					2																	234085994		2028	4194	6222	SO:0001630	splice_region_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234085994T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2035+2T>C	2.37:g.234085994T>C						INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site				Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	20	2035	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)						O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Splice_Site	SNP	ENST00000359570.5	37			.	.	.	.	.	.	.	.	.	.	T	15.64	2.894186	0.52121	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5D	233750733	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	7.652000	0.83633	1.930000	0.55929	0.374000	0.22700	.		0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	Intron	111	330	0	0	0	1	0	111	330					C	234085994	T	C	234085994	5	2	79	1	0	0	0	0	0	0	1	0	7786	1710	59	4	1651	4	INPP5D	2	234085994	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	370897	234085994	9113379	3619	13936											
DGKD	8527	broad.mit.edu	37	chr2	234299129	234299129	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcaacaacagttttacGgtaagattcctcagtcatgc	7	10	3	1	rs200443109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	116	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20693	0.0		0.0	False		,,,				2504	0.0					ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e3+1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)	G	,	1,4405	2.1+/-5.4	0,1,2202	171	155	161		216,348	3.8	1	2		161	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DGKD	NM_003648.2,NM_152879.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	72/1171,116/1215	234299129	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234299129G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.348+1G>A	2.37:g.234299129G>A						DGKD_ENST00000409813.3_Splice_Site_p.T72_splice|AC019221.4_ENST00000442524.1_RNA	p.T116_splice	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	3	360	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	116			PH.		Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37	c.348_splice	CCDS2504.1																																																																																				0.398	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Silent	64	183	0	0	0	1	0	64	183					A	234299129	G	A	234299129	5	1	79	1	0	0	0	0	0	0	1	0	4483	1130	39	1	382	1	DGKD	2	234299129	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213135	234299129	8900244	3620	13937											
DGKD	8527	broad.mit.edu	37	chr2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtacgcctgttcccacGcgaggccgacctactgcaat	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(514-516)Gcg>Acg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						190	165	174					2																	234343475		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343475G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.514G>A	2.37:g.234343475G>A	ENSP00000264057:p.Ala172Thr					DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	p.A172T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	526	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	172					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.514G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017608	0.93404	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.92805	-3.11;-3.11;1.52;-3.11	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.075139	0.53938	D	0.000043	D	0.92215	0.7531	N	0.12961	0.28	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.878	D;D;D;B	0.83275	0.969;0.989;0.996;0.288	D	0.92313	0.5859	10	0.39692	T	0.17	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	56;108;128;172	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	T	172;108;142;128	ENSP00000264057:A172T;ENSP00000407938:A108T;ENSP00000395530:A142T;ENSP00000386455:A128T	ENSP00000264057:A172T	A	+	1	0	DGKD	234008214	1.000000	0.71417	0.915000	0.36163	0.909000	0.53808	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GCG		0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		227	619	0	0	0	1	0	227	619					A	234343475	G	A	234343475	3	1	79	1	0	0	0	0	1	0	0	0	4483	1087	38	1	556	1	DGKD	2	234343475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44346	234343475	8855898	3621	13938											
USP40	55230	broad.mit.edu	37	chr2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctctccagcttcataGcaccaatccatttttcgtaa	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000427112.2	-	22	2717	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000251722.6_Nonsense_Mutation_p.C894*|USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	894					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(2680-2682)tgC>tgA		ubiquitin specific peptidase 40							76	70	72					2																	234407224		1866	4093	5959	SO:0001587	stop_gained	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234407224G>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2682C>A	2.37:g.234407224G>T	ENSP00000387898:p.Cys894*					USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000427112.2_Nonsense_Mutation_p.C894*	p.C894*			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	23	2799	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	894					Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	37	c.2682C>A	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.785296|7.785296	0.98489|0.98489	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|.	.|.	.|.	5.14|5.14	1.29|1.29	0.21616|0.21616	.|.	.|0.120079	.|0.85682	.|D	.|0.000000	T|.	0.17152|.	0.0412|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	8.245|8.245	0.31682|0.31682	0.3141:0.0:0.6859:0.0|0.3141:0.0:0.6859:0.0	.|.	.|.	.|.	.|.	D|X	70|906;894;894;70	.|.	.|ENSP00000251722:C894X	A|C	-|-	2|3	0|2	USP40|USP40	234071963|234071963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.069000|1.069000	0.30641|0.30641	0.273000|0.273000	0.22049|0.22049	0.555000|0.555000	0.69702|0.69702	GCT|TGC		0.353	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		35	111	1	0	6.5261e-18	1	7.22248e-18	35	111					T	234407224	G	T	234407224	4	4	79	1	0	0	0	0	0	1	0	0	17126	963	34	3	1065	3	USP40	2	234407224	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63749	234407224	8792149	3622	13939											
USP40	55230	broad.mit.edu	37	chr2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagtttttcttttatcaAaggtcaaatcccacacgctt	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000427112.2	-	12	1711	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000251722.6_Missense_Mutation_p.F559C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	559					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1675-1677)tTt>tGt		ubiquitin specific peptidase 40							83	78	79					2																	234436099		1857	4102	5959	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234436099A>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1676T>G	2.37:g.234436099A>C	ENSP00000387898:p.Phe559Cys					USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000427112.2_Missense_Mutation_p.F559C	p.F559C			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	13	1793	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	559					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1676T>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086059	0.76642	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.06068	3.35;3.36;3.36	4.96	3.75	0.43078	.	1.937410	0.01882	N	0.037909	T	0.25344	0.0616	M	0.62723	1.935	0.42061	D	0.991161	D;D	0.76494	0.999;0.999	P;D	0.66716	0.885;0.946	T	0.00009	-1.2467	10	0.87932	D	0	.	10.947	0.47306	0.8595:0.0:0.0:0.1405	.	559;571	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	571;559;559	ENSP00000415434:F571C;ENSP00000251722:F559C;ENSP00000387898:F559C	ENSP00000251722:F559C	F	-	2	0	USP40	234100838	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.814000	0.69208	0.788000	0.33755	0.482000	0.46254	TTT		0.433	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		55	157	0	0	0	1	0	55	157					C	234436099	A	C	234436099	3	2	79	1	0	0	0	0	1	0	0	0	17126	14	1	4	2111	4	USP40	2	234436099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28875	234436099	8763274	3623	13940											
UGT1A8	54658	broad.mit.edu	37	chr2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcacagtgaagacttactCaacctcatacactctggagg	8	11	3	2	rs200115254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	80					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463													-|||	1	0.000199681	0.0	0.0014	5008	,	,		20350	0.0		0.0	False		,,,				2504	0.0					ENST00000373450.4																			1	Substitution - Nonsense(1)	p.S78*(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(232-234)tCa>tTa									133	124	127					2																	234526586		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526586C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>T	2.37:g.234526586C>T	ENSP00000362549:p.Ser78Leu						p.S78L	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	296	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.233C>T	CCDS33402.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.12	1.544877	0.27652	.	.	ENSG00000242366	ENST00000373450	T	0.60797	0.16	3.96	-2.22	0.06952	.	.	.	.	.	T	0.52677	0.1749	M	0.71581	2.175	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.013;0.013	T	0.54337	-0.8309	9	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	78;78	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	L	78	ENSP00000362549:S78L	ENSP00000362549:S78L	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA		0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			138	624	0	0	0	1	0	138	624					T	234526586	C	T	234526586	3	4	79	1	0	0	0	0	1	0	0	0	17005	838	29	2	235	2	UGT1A8	2	234526586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90487	234526586	8672787	3624	13941											
UGT1A4	54657	broad.mit.edu	37	chr2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttaacctctgtggggCggtgctggctaagtacctgt	13	12	1	0	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	159					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTCTGTGGGGCGGTGCTGGCT	0.488																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(475-477)gCg>gTg				C	,VAL/ALA,,,,,,	3,4403	6.2+/-15.9	0,3,2200	173	174	173		,476,,,,,,	2.5	0	2	dbSNP_134	173	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,64,,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,,,	,159/535,,,,,,	234627942	3,13003	2203	4300	6503	SO:0001583	missense	0							g.chr2:234627942C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.476C>T	2.37:g.234627942C>T	ENSP00000362508:p.Ala159Val					UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron	p.A159V	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	519	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.476C>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452340	0.01080	6.81E-4	0.0	ENSG00000244474	ENST00000373409	T	0.61040	0.14	4.31	2.51	0.30379	.	.	.	.	.	T	0.31040	0.0784	N	0.04245	-0.25	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.21360	0.004;0.034	T	0.18967	-1.0320	9	0.39692	T	0.17	.	3.9952	0.09554	0.2919:0.4551:0.0:0.253	.	159;159	B8K288;P22310	.;UD14_HUMAN	V	159	ENSP00000362508:A159V	ENSP00000362508:A159V	A	+	2	0	UGT1A4	234292681	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-0.418000	0.07080	0.299000	0.22661	-1.537000	0.00914	GCG		0.488	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		299	897	0	0	0	1	0	299	897					T	234627942	C	T	234627942	3	4	79	1	0	0	0	0	1	0	0	0	17001	768	27	1	478	1	UGT1A4	2	234627942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101356	234627942	8571431	3625	13942											
TRPM8	79054	broad.mit.edu	37	chr2	234891813	234891813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtggatattccgttcGgtcatctacgagccctacct	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	902					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATTCCGTTCGGTCATCTACG	0.572																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2704-2706)tcG>tcA		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						141	126	131					2																	234891813		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891813G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2706G>A	2.37:g.234891813G>A						TRPM8_ENST00000433712.2_Silent_p.S480S	p.S902S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2746	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	902					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2706G>A	CCDS33407.1																																																																																				0.572	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		27	647	0	0	0	1	0	27	647					A	234891813	G	A	234891813	2	1	79	1	0	0	0	0	0	0	0	1	16645	1103	39	1		1	TRPM8	2	234891813	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263871	234891813	8307560	3626	13943											
ARL4C	10123	broad.mit.edu	37	chr2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccgcttcttcttctgcTtgagggacttcctgcgtttc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	187					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(559-561)aAg>aCg		ADP-ribosylation factor-like 4C							42	44	43					2																	235404671		1972	4153	6125	SO:0001583	missense	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404671T>G	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.560A>C	2.37:g.235404671T>G	ENSP00000375057:p.Lys187Thr					ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	1026	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	187					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	c.560A>C	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557128	0.65425	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.69040	-0.37;-0.35	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.52905	1.665	0.47994	D	0.999565	P;D	0.57899	0.947;0.981	P;D	0.65140	0.727;0.932	T	0.78196	-0.2298	10	0.87932	D	0	-13.7263	12.4319	0.55578	0.0:0.0:0.0:1.0	.	187;187	P56559;Q4A519	ARL4C_HUMAN;.	T	187	ENSP00000375057:K187T;ENSP00000339754:K187T	ENSP00000339754:K187T	K	-	2	0	ARL4C	235069410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.679000	0.50963	0.455000	0.32223	AAG		0.577	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			54	257	0	0	0	1	0	54	257					G	235404671	T	G	235404671	3	3	79	1	0	0	0	0	1	0	0	0	938	1609	56	4	22	4	ARL4C	2	235404671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	512858	235404671	7794702	3627	13944											
SH3BP4	23677	broad.mit.edu	37	chr2	235961352	235961352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcagatggacgcctaCgagtctccccaccgggacag	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	875					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2623-2625)taC>taT		SH3-domain binding protein 4							36	31	33					2																	235961352		2203	4299	6502	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235961352C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2625C>T	2.37:g.235961352C>T						SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y	p.Y875Y			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	5	3132	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	875					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2625C>T	CCDS2513.1																																																																																				0.652	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			9	56	0	0	0	1	0	9	56					T	235961352	C	T	235961352	2	4	79	1	0	0	0	0	0	0	0	1	14296	547	19	1		1	SH3BP4	2	235961352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556681	235961352	7238021	3628	13945											
AGAP1	116987	broad.mit.edu	37	chr2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgtgggtaacttggccaGcggcaagtctgccctggtgc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	82	Small GTPase-like.		S -> G (in an autistic patient). {ECO:0000269|PubMed:15892143}.		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACTTGGCCAGCGGCAAGTCT	0.478																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1039-1041)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							95	89	91					2																	236626223		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236626223G>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.245G>T	2.37:g.236626223G>T	ENSP00000307634:p.Ser82Ile					AGAP1_ENST00000304032.7_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I	p.S347I			Q9UPQ3	AGAP1_HUMAN			3	1536	+			82			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1040G>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182524	0.94885	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.0	5.0	0.66597	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.62105	-0.6924	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	82;82	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	82;82;82;29;347	ENSP00000387174:S82I;ENSP00000307634:S82I;ENSP00000338378:S82I;ENSP00000385492:S29I;ENSP00000386897:S347I	ENSP00000307634:S82I	S	+	2	0	AGAP1	236290962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.685000	0.98661	2.488000	0.83962	0.655000	0.94253	AGC		0.478	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		63	265	1	0	9.5628e-27	1	1.10398e-26	63	265					T	236626223	G	T	236626223	3	4	79	1	0	0	0	0	1	0	0	0	366	971	34	3	255	3	AGAP1	2	236626223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	664871	236626223	6573150	3629	13946											
AGAP1	116987	broad.mit.edu	37	chr2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccatcgagagccagatcCtggccagcctgcagtcgtgc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M|RNU7-127P_ENST00000458845.1_RNA	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGATCCTGGCCAGCCT	0.612																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2398-2400)Ctg>Atg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							77	80	79					2																	236945321		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236945321C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1762C>A	2.37:g.236945321C>A	ENSP00000307634:p.Leu588Met					AGAP1_ENST00000304032.7_Missense_Mutation_p.L588M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M	p.L800M			Q9UPQ3	AGAP1_HUMAN			13	2894	+			588					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2398C>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.322237|3.322237	0.60634|0.60634	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21|.	4.75|4.75	3.87|3.87	0.44632|0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57533|0.57533	0.2060|0.2060	L|L	0.50333|0.50333	1.59|1.59	0.50467|0.50467	D|D	0.999879|0.999879	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.74674|.	0.984;0.959|.	T|T	0.53542|0.53542	-0.8424|-0.8424	10|5	0.48119|.	T|.	0.1|.	.|.	8.9764|8.9764	0.35939|0.35939	0.0:0.7657:0.0:0.2343|0.0:0.7657:0.0:0.2343	.|.	535;588|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	588;535;800;427|246;140	ENSP00000307634:L588M;ENSP00000338378:L535M;ENSP00000386897:L800M;ENSP00000411824:L427M|.	ENSP00000307634:L588M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236610060|236610060	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.953000|0.953000	0.61014|0.61014	2.640000|2.640000	0.46579|0.46579	1.140000|1.140000	0.42260|0.42260	-0.136000|-0.136000	0.14681|0.14681	CTG|CCT		0.612	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		57	671	1	0	7.06795e-37	1	8.47427e-37	57	671					A	236945321	C	A	236945321	3	1	79	1	0	0	0	0	1	0	0	0	366	680	24	3	1816	3	AGAP1	2	236945321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319098	236945321	6254052	3630	13947											
GBX2	2637	broad.mit.edu	37	chr2	237075079	237075079	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgccctcggacagccccGactgaaagcaaaaccaaacg	8	16	0	1	rs368955018		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	ENST00000306318.4	-	2	922	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GBX2_ENST00000551105.1_Splice_Site_p.R188W|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e2-1		gastrulation brain homeobox 2							88	96	93					2																	237075079		2203	4300	6503	SO:0001630	splice_region_variant	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237075079G>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.524-1C>T	2.37:g.237075079G>A						GBX2_ENST00000551105.1_Splice_Site_p.R188_splice|GBX2_ENST00000465889.1_5'UTR	p.V175_splice	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	922	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	175	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Splice_Site	SNP	ENST00000306318.4	37	c.523_splice	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965486	0.34659	.	.	ENSG00000168505	ENST00000551105	.	.	.	4.39	1.17	0.20885	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.21220	N	0.999758	D	0.63880	0.993	P	0.44561	0.453	T	0.22312	-1.0220	7	0.87932	D	0	.	10.9983	0.47589	0.0:0.3533:0.5302:0.1165	.	188	F8VY47	.	W	188	.	ENSP00000448747:R188W	R	-	1	2	GBX2	236739818	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	0.408000	0.21065	0.302000	0.22762	-0.467000	0.05162	CGG		0.567	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485	Silent	27	807	0	0	0	1	0	27	807					A	237075079	G	A	237075079	5	1	79	1	0	0	0	0	0	0	1	0	6309	1072	37	1	525	1	GBX2	2	237075079	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129758	237075079	6124294	3631	13948											
GBX2	2637	broad.mit.edu	37	chr2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgactcaccgagcgaagcCtgcaccgtctcggccgcgga	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(511-513)caG>caT		gastrulation brain homeobox 2							10	11	10					2																	237076102		2073	4094	6167	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076102C>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.513G>T	2.37:g.237076102C>A	ENSP00000302251:p.Gln171His					AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H	p.Q171H	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	910	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	171	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.513G>T	CCDS2515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376234|1.376234	0.24857|0.24857	.|.	.|.	ENSG00000233611|ENSG00000168505	ENST00000415226|ENST00000306318;ENST00000551105	.|D	.|0.91996	.|-2.95	4.28|4.28	2.41|2.41	0.29592|0.29592	.|.	.|0.246616	.|0.34088	.|N	.|0.004272	T|T	0.80423|0.80423	0.4620|0.4620	N|N	0.08118|0.08118	0|0	0.26482|0.26482	N|N	0.975095|0.975095	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.68777|0.68777	-0.5319|-0.5319	5|10	.|0.33940	.|T	.|0.23	-14.2715|-14.2715	7.5684|7.5684	0.27894|0.27894	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	.|171;171	.|F8VY47;P52951	.|.;GBX2_HUMAN	M|H	5|171	.|ENSP00000302251:Q171H	.|ENSP00000302251:Q171H	L|Q	+|-	1|3	2|2	AC079135.1|GBX2	236740841|236740841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	0.786000|0.786000	0.26844|0.26844	0.761000|0.761000	0.33130|0.33130	0.462000|0.462000	0.41574|0.41574	CTG|CAG		0.756	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		24	117	1	0	6.12954e-19	1	6.81806e-19	24	117					A	237076102	C	A	237076102	3	1	79	1	0	0	0	0	1	0	0	0	6309	680	24	3	541	3	GBX2	2	237076102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	237076102	6123271	3632	13949											
GBX2	2637	broad.mit.edu	37	chr2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagcgtagaggtgagcgCcatgccctgcgccaggctgg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(295-297)Gcg>Acg		gastrulation brain homeobox 2							12	17	15					2																	237076320		2145	4210	6355	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076320C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.295G>A	2.37:g.237076320C>T	ENSP00000302251:p.Ala99Thr					AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000483218.1_RNA	p.A99T	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	692	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	99	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.295G>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478753	0.84747	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.92446	-3.04	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	N	0.19112	0.55	0.58432	D	0.999999	D;B	0.76494	0.999;0.024	D;B	0.74023	0.982;0.007	D	0.88360	0.2987	10	0.15952	T	0.53	-13.0501	14.1461	0.65351	0.0:0.8486:0.1513:0.0	.	99;99	F8VY47;P52951	.;GBX2_HUMAN	T	99	ENSP00000302251:A99T	ENSP00000302251:A99T	A	-	1	0	GBX2	236741059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.450000	0.44943	2.176000	0.68965	0.462000	0.41574	GCG		0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		22	120	0	0	0	1	0	22	120					T	237076320	C	T	237076320	3	4	79	1	0	0	0	0	1	0	0	0	6309	739	26	2	759	2	GBX2	2	237076320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	237076320	6123053	3633	13950											
IQCA1	79781	broad.mit.edu	37	chr2	237272537	237272537	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtttcggtgcagatggcatgGaccagcattttcttccctac	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000431676.2_Silent_p.V544V|IQCA1_ENST00000309507.5_Silent_p.V582V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	585							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1753-1755)gtC>gtA		IQ motif containing with AAA domain 1							171	169	170					2																	237272537		1994	4154	6148	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237272537G>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1755C>A	2.37:g.237272537G>T						IQCA1_ENST00000431676.2_Silent_p.V544V|IQCA1_ENST00000309507.5_Silent_p.V582V	p.V585V			Q86XH1	IQCA1_HUMAN			15	2029	-			585					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1755C>A	CCDS46549.1																																																																																				0.512	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		136	378	1	0	2.46909e-68	1	3.13059e-68	136	378					T	237272537	G	T	237272537	2	4	79	1	0	0	0	0	0	0	0	1	7832	1161	41	3		3	IQCA1	2	237272537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196217	237272537	5926836	3634	13951											
IQCA1	79781	broad.mit.edu	37	chr2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaatcatcttctgaggCtctttatcgagtaaagcacc	8	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D|IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	24							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(70-72)gaG>gaT		IQ motif containing with AAA domain 1							53	52	52					2																	237406070		1848	4087	5935	SO:0001583	missense	79781						ATP binding	g.chr2:237406070C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.72G>T	2.37:g.237406070C>A	ENSP00000387347:p.Glu24Asp					IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D|IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D	p.E24D			Q86XH1	IQCA1_HUMAN			2	346	-			24					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.72G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487286|2.487286	0.44249|0.44249	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.95205	.|-3.5;-3.46;-3.64	5.52|5.52	2.71|2.71	0.32032|0.32032	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	D|D	0.95802|0.95802	0.8634|0.8634	L|L	0.56280|0.56280	1.765|1.765	0.34624|0.34624	D|D	0.718933|0.718933	.|D;D;D	.|0.89917	.|0.965;1.0;0.965	.|P;D;P	.|0.91635	.|0.523;0.999;0.523	D|D	0.96316|0.96316	0.9232|0.9232	5|10	.|0.56958	.|D	.|0.05	.|.	12.8231|12.8231	0.57704|0.57704	0.0:0.7967:0.0:0.2033|0.0:0.7967:0.0:0.2033	.|.	.|24;31;24	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|D	43|24;31;20;24;20	.|ENSP00000387347:E24D;ENSP00000311951:E20D;ENSP00000407213:E24D	.|ENSP00000254653:E24D	A|E	-|-	1|3	0|2	IQCA1|IQCA1	237070809|237070809	0.356000|0.356000	0.24930|0.24930	0.991000|0.991000	0.47740|0.47740	0.487000|0.487000	0.33371|0.33371	0.131000|0.131000	0.15870|0.15870	0.036000|0.036000	0.15547|0.15547	-0.797000|-0.797000	0.03246|0.03246	GCC|GAG		0.383	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		10	147	1	0	5.50884e-06	1	5.65664e-06	10	147					A	237406070	C	A	237406070	3	1	79	1	0	0	0	0	1	0	0	0	7832	796	28	3	2468	3	IQCA1	2	237406070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133533	237406070	5793303	3635	13952											
CXCR7	57007	broad.mit.edu	37	chr2	237489978	237489978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcacctgccggctggaGcacgccctcttcacggccct	9	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237489978G>A	ENST00000272928.3	+	2	1180	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	290					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCCGGCTGGAGCACGCCCTCT	0.592																																						ENST00000272928.3																			0											c.(868-870)gaG>gaA		atypical chemokine receptor 3							142	118	126					2																	237489978		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489978G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.870G>A	2.37:g.237489978G>A							p.E290E	NM_020311.2	NP_064707.1					2	1180	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.870G>A	CCDS2516.1																																																																																				0.592	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		233	489	0	0	0	1	0	233	489					A	237489978	G	A	237489978	2	1	79	1	0	0	0	0	0	0	0	1	4107	962	34	2		2	CXCR7	2	237489978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83908	237489978	5709395	3636	13953											
COPS8	10920	broad.mit.edu	37	chr2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcaggcaaattctgaacTtgggggaatttggtcagtag	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	71	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(211-213)cTt>cCt		COP9 signalosome subunit 8							63	65	64					2																	237998518		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:237998518T>C		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.212T>C	2.37:g.237998518T>C	ENSP00000346340:p.Leu71Pro					COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	4	865	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	71			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.212T>C	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167928	0.78339	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	.	0.063904	0.64402	D	0.000009	T	0.78470	0.4288	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	9	0.87932	D	0	.	14.5789	0.68271	0.0:0.0:0.0:1.0	.	71;71	B8ZZP3;Q99627	.;CSN8_HUMAN	P	71;22;71;71	.	ENSP00000346340:L71P	L	+	2	0	COPS8	237663257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.043000	0.60533	0.528000	0.53228	CTT		0.408	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		66	362	0	0	0	1	0	66	362					C	237998518	T	C	237998518	3	2	79	1	0	0	0	0	1	0	0	0	3749	1609	56	4	226	4	COPS8	2	237998518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	508540	237998518	5200855	3637	13954											
COL6A3	1293	broad.mit.edu	37	chr2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgtcgtagtcaccGgcttcgttgtcgtcactggg	13	13	2	0	rs367635298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.001					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8626-8628)cCg>cTg		collagen, type VI, alpha 3		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	170	158	162		8627,6806,8009	4.1	0.1	2		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2876/3178,2269/2571,2670/2972	238245116	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245116G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8627C>T	2.37:g.238245116G>A	ENSP00000295550:p.Pro2876Leu					COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L	p.P2876L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9079	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2876			Nonhelical region.|Thr-rich.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8627C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	4.155	0.027127	0.08054	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90563	-2.69;-2.65;-2.65;-2.64;-2.65;-2.62	4.05	4.05	0.47172	.	0.145674	0.31797	N	0.007057	D	0.84469	0.5479	L	0.48877	1.53	0.19575	N	0.999962	P;P;P	0.39404	0.672;0.655;0.524	B;B;B	0.28784	0.043;0.094;0.043	T	0.80460	-0.1373	10	0.72032	D	0.01	.	12.0817	0.53675	0.0:0.0:1.0:0.0	.	2269;2670;2876	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	2876;2675;2670;2269;2670;2676	ENSP00000295550:P2876L;ENSP00000315609:P2675L;ENSP00000315873:P2670L;ENSP00000418285:P2269L;ENSP00000386844:P2670L;ENSP00000295546:P2676L	ENSP00000295550:P2876L	P	-	2	0	COL6A3	237909855	0.051000	0.20477	0.056000	0.19401	0.093000	0.18481	2.136000	0.42121	1.952000	0.56665	0.563000	0.77884	CCG		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		173	870	0	0	0	1	0	173	870					A	238245116	G	A	238245116	3	1	79	1	0	0	0	0	1	0	0	0	3710	1116	39	1	926	1	COL6A3	2	238245116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246598	238245116	4954257	3638	13955											
COL6A3	1293	broad.mit.edu	37	chr2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttcacaggtggcatgCtggcattgtccacggactca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2679	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGGCATGCTGGCATTGTC	0.582																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8035-8037)aGc>aAc		collagen, type VI, alpha 3							85	79	81					2																	238249523		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249523C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8036G>A	2.37:g.238249523C>T	ENSP00000295550:p.Ser2679Asn					COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N	p.S2679N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8488	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2679			Nonhelical region.|VWFA 12.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8036G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081634	0.08533	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88586	-2.4;-2.39;-2.37;-2.37;-2.37;-2.36	5.16	5.16	0.70880	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.92821	0.7717	L	0.55481	1.735	0.41280	D	0.986903	D;D;D	0.76494	0.997;0.996;0.999	D;P;D	0.85130	0.939;0.899;0.997	D	0.90740	0.4649	10	0.25106	T	0.35	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2072;2473;2679	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2679;2478;2473;2072;2473;2479	ENSP00000295550:S2679N;ENSP00000315609:S2478N;ENSP00000315873:S2473N;ENSP00000418285:S2072N;ENSP00000386844:S2473N;ENSP00000295546:S2479N	ENSP00000295550:S2679N	S	-	2	0	COL6A3	237914262	0.985000	0.35326	0.653000	0.29593	0.037000	0.13140	2.573000	0.46007	2.536000	0.85505	0.655000	0.94253	AGC		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		62	289	0	0	0	1	0	62	289					T	238249523	C	T	238249523	3	4	79	1	0	0	0	0	1	0	0	0	3710	797	28	2	1525	2	COL6A3	2	238249523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4407	238249523	4949850	3639	13956											
COL6A3	1293	broad.mit.edu	37	chr2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagccactttcctcattaGgaatccgttcctcacacgct	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2507	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCTCATTAGGAATCCGTTC	0.522																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7519-7521)Cta>Ata		collagen, type VI, alpha 3							141	135	137					2																	238253142		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253142G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7519C>A	2.37:g.238253142G>T	ENSP00000295550:p.Leu2507Ile					COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I	p.L2507I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7971	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2507			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7519C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.800919	0.16397	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.87	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000475	D	0.89312	0.6679	M	0.76574	2.34	0.51482	D	0.999924	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.972;0.936;0.953;0.996	D	0.87282	0.2293	10	0.24483	T	0.36	.	13.4122	0.60948	0.0763:0.0:0.9237:0.0	.	1900;1900;2301;2507	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	I	2507;2306;2301;1900;2301;2307	ENSP00000295550:L2507I;ENSP00000315609:L2306I;ENSP00000315873:L2301I;ENSP00000418285:L1900I;ENSP00000386844:L2301I;ENSP00000295546:L2307I	ENSP00000295550:L2507I	L	-	1	2	COL6A3	237917881	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	6.486000	0.73629	1.171000	0.42768	0.655000	0.94253	CTA		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		201	581	1	0	8.84996e-99	1	1.13791e-98	201	581					T	238253142	G	T	238253142	3	4	79	1	0	0	0	0	1	0	0	0	3710	991	35	3	2050	3	COL6A3	2	238253142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3619	238253142	4946231	3640	13957											
COL6A3	1293	broad.mit.edu	37	chr2	238274604	238274604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcgtccaccttggactCgaagcccttctgggccacaa	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238274604C>T	ENST00000295550.4	-	12	6027	c.5575G>A	c.(5575-5577)Gag>Aag	p.E1859K	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1659K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1859	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTTGGACTCGAAGCCCTTC	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5575-5577)Gag>Aag		collagen, type VI, alpha 3							79	80	79					2																	238274604		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274604C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5575G>A	2.37:g.238274604C>T	ENSP00000295550:p.Glu1859Lys					COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1659K	p.E1859K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6027	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1859			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5575G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521731	0.27211	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.000000	0.56097	D	0.000038	T	0.60715	0.2290	M	0.72894	2.215	0.50632	D	0.999884	D;D;D	0.76494	0.997;0.999;0.996	P;P;P	0.62089	0.716;0.898;0.557	T	0.61083	-0.7134	10	0.51188	T	0.08	.	15.177	0.72920	0.0:0.8595:0.1405:0.0	.	1252;1653;1859	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	K	1859;1658;1653;1252;1653;1659	ENSP00000295550:E1859K;ENSP00000315609:E1658K;ENSP00000315873:E1653K;ENSP00000418285:E1252K;ENSP00000386844:E1653K;ENSP00000295546:E1659K	ENSP00000295550:E1859K	E	-	1	0	COL6A3	237939343	1.000000	0.71417	0.991000	0.47740	0.242000	0.25591	4.530000	0.60595	2.723000	0.93209	0.655000	0.94253	GAG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		14	745	0	0	0	1	0	14	745					T	238274604	C	T	238274604	3	4	79	1	0	0	0	0	1	0	0	0	3710	893	31	1	4090	1	COL6A3	2	238274604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21462	238274604	4924769	3641	13958											
COL6A3	1293	broad.mit.edu	37	chr2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccctctcagagatgacctGttggacggtccccagctggc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1199	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGATGACCTGTTGGACGGTC	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3595-3597)Cag>Gag		collagen, type VI, alpha 3							72	63	66					2																	238283139		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283139G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3595C>G	2.37:g.238283139G>C	ENSP00000295550:p.Gln1199Glu					COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E	p.Q1199E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4047	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1199			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3595C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442636	0.43326	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.97	4.97	0.65823	von Willebrand factor, type A (2);	0.000000	0.49916	D	0.000138	T	0.62245	0.2412	L	0.38649	1.16	0.54753	D	0.999981	D;B;P;D;P	0.55172	0.97;0.107;0.594;0.963;0.592	D;B;P;P;B	0.63877	0.919;0.062;0.547;0.867;0.306	T	0.58047	-0.7705	10	0.30854	T	0.27	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	592;792;993;993;1199	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1199;998;993;592;993;999;993;792	ENSP00000295550:Q1199E;ENSP00000315609:Q998E;ENSP00000315873:Q993E;ENSP00000418285:Q592E;ENSP00000386844:Q993E;ENSP00000295546:Q999E;ENSP00000375861:Q993E;ENSP00000375860:Q792E	ENSP00000295550:Q1199E	Q	-	1	0	COL6A3	237947878	1.000000	0.71417	0.941000	0.38009	0.510000	0.34073	4.218000	0.58554	2.477000	0.83638	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		91	285	0	0	0	1	0	91	285					C	238283139	G	C	238283139	3	2	79	1	0	0	0	0	1	0	0	0	3710	1386	48	5	6133	5	COL6A3	2	238283139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8535	238283139	4916234	3642	13959											
COL6A3	1293	broad.mit.edu	37	chr2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttcacaaaaatgtacCtctgtgcatagtccagcgcg	8	12	2	1	rs372127270		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	925	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAAATGTACCTCTGTGCATA	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2773-2775)aGg>aAg		collagen, type VI, alpha 3							86	75	79					2																	238285711		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285711C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2774G>A	2.37:g.238285711C>T	ENSP00000295550:p.Arg925Lys					COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K	p.R925K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3226	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	925			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2774G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286726	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.103753	0.41396	D	0.000884	T	0.82144	0.4973	N	0.25426	0.745	0.19575	N	0.999968	B;P;B;B;P;B	0.50943	0.09;0.94;0.149;0.291;0.866;0.201	B;P;B;P;P;B	0.57548	0.13;0.823;0.314;0.491;0.591;0.13	T	0.73483	-0.3968	10	0.22706	T	0.39	.	14.6055	0.68475	0.0:0.9293:0.0:0.0707	.	725;318;518;719;719;925	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	925;724;719;318;719;725;719;518	ENSP00000295550:R925K;ENSP00000315609:R724K;ENSP00000315873:R719K;ENSP00000418285:R318K;ENSP00000386844:R719K;ENSP00000295546:R725K;ENSP00000375861:R719K;ENSP00000375860:R518K	ENSP00000295550:R925K	R	-	2	0	COL6A3	237950450	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	1.221000	0.32503	1.335000	0.45486	0.655000	0.94253	AGG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		80	371	0	0	0	1	0	80	371					T	238285711	C	T	238285711	3	4	79	1	0	0	0	0	1	0	0	0	3710	681	24	2	6958	2	COL6A3	2	238285711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572	238285711	4913662	3643	13960											
MLPH	79083	broad.mit.edu	37	chr2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtcagggtctaggtgCtggagtgcgcacggaggccg	18	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000264605.3	+	10	1409	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	372					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1114-1116)gCt>gAt		melanophilin							60	58	59					2																	238449001		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238449001C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1115C>A	2.37:g.238449001C>A	ENSP00000264605:p.Ala372Asp					MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D	p.A372D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	10	1409	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	372					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.1115C>A	CCDS2518.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.602683|2.602683|2.602683	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000415753|ENST00000436965	T;T;T;T;T;T|.|.	0.26810|.|.	1.95;2.11;1.95;1.92;1.71;1.87|.|.	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	.|.|.	1.852170|.|.	0.04248|.|.	N|.|.	0.338191|.|.	T|.|T	0.26774|.|0.26774	0.0655|.|0.0655	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;D;D;P;D;P;P;B|.|.	0.57571|.|.	0.158;0.98;0.974;0.839;0.958;0.9;0.883;0.102|.|.	B;P;P;B;P;P;P;B|.|.	0.51657|.|.	0.028;0.601;0.676;0.347;0.587;0.549;0.482;0.037|.|.	T|.|T	0.28586|.|0.28586	-1.0039|.|-1.0039	10|.|5	0.10377|.|.	T|.|.	0.69|.|.	-2.1634|-2.1634|-2.1634	2.0399|2.0399|2.0399	0.03548|0.03548|0.03548	0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891	.|.|.	33;372;228;344;304;344;372;229|.|.	Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.|.	.;.;.;.;.;.;MELPH_HUMAN;.|.|.	D|X|M	229;372;372;344;304;132|59|93	ENSP00000386338:A229D;ENSP00000264605:A372D;ENSP00000414849:A372D;ENSP00000341845:A344D;ENSP00000386780:A304D;ENSP00000412438:A132D|.|.	ENSP00000264605:A372D|.|.	A|C|L	+|+|+	2|3|1	0|2|2	MLPH|MLPH|MLPH	238113740|238113740|238113740	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.003000|0.003000|0.003000	0.03518|0.03518|0.03518	0.487000|0.487000|0.487000	0.22356|0.22356|0.22356	-0.248000|-0.248000|-0.248000	0.09583|0.09583|0.09583	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|TGC|CTG		0.632	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		60	149	1	0	1.95512e-22	1	2.21276e-22	60	149					A	238449001	C	A	238449001	3	1	79	1	0	0	0	0	1	0	0	0	9674	797	28	3	1149	3	MLPH	2	238449001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163290	238449001	4750372	3644	13961											
LRRFIP1	9208	broad.mit.edu	37	chr2	238632193	238632193	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctttcttctgacagtcGcagcctgacttggagtatgg	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238632193G>A	ENST00000392000.4	+	4	366				LRRFIP1_ENST00000308482.9_Silent_p.S116S|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTGACAGTCGCAGCCTGACT	0.403																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(346-348)tcG>tcA		leucine rich repeat (in FLII) interacting protein 1							166	147	153					2																	238632193		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238632193G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.249+2728G>A	2.37:g.238632193G>A						LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron	p.S116S	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	7	417	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.348G>A	CCDS46552.1																																																																																				0.403	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		60	325	0	0	0	1	0	60	325					A	238632193	G	A	238632193	1	1	79	0	1	0	0	0	0	0	0	0	9065	1074	38	1		1	LRRFIP1	2	238632193	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183192	238632193	4567180	3645	13962											
LRRFIP1	9208	broad.mit.edu	37	chr2	238688109	238688109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctcgaggtgagcaaCggccacttagtgaagcgtct	14	9	1	3	rs368929531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	468					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1855-1857)aaC>aaT		leucine rich repeat (in FLII) interacting protein 1		C	,	0,3136		0,0,1568	71	66	68		1857,1119	-0.1	1	2		68	1,7163		0,1,3581	no	coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1	,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	,	619/641,373/395	238688109	1,10299	1568	3582	5150	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238688109C>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1857C>T	2.37:g.238688109C>T							p.N619N	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	24	1926	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	306					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000308482.9	37	c.1857C>T	CCDS46551.1																																																																																				0.483	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		46	119	0	0	0	1	0	46	119					T	238688109	C	T	238688109	2	4	79	1	0	0	0	0	0	0	0	1	9065	535	19	1		1	LRRFIP1	2	238688109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55916	238688109	4511264	3646	13963											
RBM44	375316	broad.mit.edu	37	chr2	238726960	238726960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacagtcacaattaatcaGacagtggacgttagcactga	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000409864.1	+	3	1655	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	RBM44_ENST00000316997.4_Silent_p.Q467Q|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	466						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAATTAATCAGACAGTGGACG	0.398																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1399-1401)caG>caA		RNA binding motif protein 44							101	94	96					2																	238726960		1946	4133	6079	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238726960G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1401G>A	2.37:g.238726960G>A						RBM44_ENST00000409864.1_Silent_p.Q467Q|RBM44_ENST00000444524.2_Intron	p.Q467Q	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1533	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	466					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.1401G>A	CCDS46554.1																																																																																				0.398	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		77	220	0	0	0	1	0	77	220					A	238726960	G	A	238726960	2	1	79	1	0	0	0	0	0	0	0	1	13188	933	33	2		2	RBM44	2	238726960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38851	238726960	4472413	3647	13964											
SCLY	51540	broad.mit.edu	37	chr2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacatcctcgcggcagtcCgcccgaccacacgcctcgtg	10	19	0	0	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000555827.1	+	5	617	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000254663.6_Missense_Mutation_p.R193C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C			Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(577-579)Cgc>Tgc		selenocysteine lyase		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	91	97		577	5.8	1	2	dbSNP_134	97	0,8600		0,0,4300	no	missense	SCLY	NM_016510.5	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	193/454	238990418	1,13005	2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990418C>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.553C>T	2.37:g.238990418C>T	ENSP00000450613:p.Arg185Cys					SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000555827.1_Missense_Mutation_p.R185C	p.R193C	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	5	719	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	185					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.577C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026472|3.026472	0.54683|0.54683	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.87334	.|1.87;1.87;1.45;-2.24;1.45;1.87;1.45	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91078|0.91078	0.7192|0.7192	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45283	.|0.855;0.745;0.833	.|B;B;B	.|0.40410	.|0.188;0.328;0.17	D|D	0.93015|0.93015	0.6435|0.6435	5|10	.|0.87932	.|D	.|0	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	L|C	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193C;ENSP00000450613:R185C;ENSP00000362429:R103C;ENSP00000414165:R99C;ENSP00000387162:R185C;ENSP00000416865:R91C;ENSP00000414053:R15C	.|ENSP00000254663:R185C	P|R	+|+	2|1	0|0	SCLY|SCLY	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.577	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		66	326	0	0	0	1	0	66	326					T	238990418	C	T	238990418	3	4	79	1	0	0	0	0	1	0	0	0	13957	652	23	1	571	1	SCLY	2	238990418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263458	238990418	4208955	3648	13965											
SCLY	51540	broad.mit.edu	37	chr2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggtggcagctgggctacCtcccatcctcgtgcacacgg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000555827.1	+	6	741	c.677C>A	c.(676-678)cCt>cAt	p.P226H	SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000254663.6_Missense_Mutation_p.P234H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H			Q96I15	SCLY_HUMAN	selenocysteine lyase	226					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCTGGGCTACCTCCCATCCTC	0.587																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(700-702)cCt>cAt		selenocysteine lyase							109	98	102					2																	238990750		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990750C>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.677C>A	2.37:g.238990750C>A	ENSP00000450613:p.Pro226His					SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000555827.1_Missense_Mutation_p.P226H	p.P234H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	6	843	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	226					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.701C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355000|2.355000	0.41700|0.41700	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;T;T;T;T	.|0.32988	.|1.85;1.85;1.43;1.44;1.87;1.85;1.48	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58595|0.58595	0.2133|0.2133	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.99	.|D;D;D	.|0.76575	.|0.983;0.988;0.94	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.62326	.|D	.|0.03	-14.5538|-14.5538	17.9223|17.9223	0.88970|0.88970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|132;226;226	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	I|H	72|234;226;144;140;226;132;56	.|ENSP00000254663:P234H;ENSP00000450613:P226H;ENSP00000362429:P144H;ENSP00000414165:P140H;ENSP00000387162:P226H;ENSP00000416865:P132H;ENSP00000414053:P56H	.|ENSP00000254663:P226H	L|P	+|+	1|2	0|0	SCLY|SCLY	238655489|238655489	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.017000|0.017000	0.09413|0.09413	5.615000|5.615000	0.67702|0.67702	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.587	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		88	422	1	0	6.71967e-41	1	8.15689e-41	88	422					A	238990750	C	A	238990750	3	1	79	1	0	0	0	0	1	0	0	0	13957	681	24	3	699	3	SCLY	2	238990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	238990750	4208623	3649	13966											
ESPNL	339768	broad.mit.edu	37	chr2	239009107	239009107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaggatggggatgtggCgacgttggagcggctgctgg	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239009107C>T	ENST00000343063.3	+	1	310	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	16										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGGATGTGGCGACGTTGGAG	0.701																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(46-48)gCg>gTg		espin-like							12	17	15					2																	239009107		2190	4292	6482	SO:0001583	missense	339768							g.chr2:239009107C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.47C>T	2.37:g.239009107C>T	ENSP00000339115:p.Ala16Val					ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	310	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	16					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.47C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789962	0.31685	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.65364	-0.05;-0.15	4.37	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.453640	0.20101	N	0.099224	T	0.52141	0.1716	L	0.45137	1.4	0.42923	D	0.994297	D	0.57571	0.98	P	0.44394	0.448	T	0.49969	-0.8882	10	0.30078	T	0.28	-19.4228	7.7596	0.28944	0.1819:0.6414:0.1767:0.0	.	16	Q6ZVH7	ESPNL_HUMAN	V	16	ENSP00000339115:A16V;ENSP00000386577:A16V	ENSP00000339115:A16V	A	+	2	0	ESPNL	238673846	0.001000	0.12720	0.980000	0.43619	0.037000	0.13140	-0.055000	0.11807	1.988000	0.58038	0.462000	0.41574	GCG		0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		12	83	0	0	0	1	0	12	83					T	239009107	C	T	239009107	3	4	79	1	0	0	0	0	1	0	0	0	5273	768	27	1	49	1	ESPNL	2	239009107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18357	239009107	4190266	3650	13967											
ESPNL	339768	broad.mit.edu	37	chr2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggggtgggacccccCtccacgacgcagcagagaac	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(823-825)Ctc>Ttc		espin-like							37	34	35					2																	239016582		2199	4300	6499	SO:0001583	missense	339768							g.chr2:239016582C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.823C>T	2.37:g.239016582C>T	ENSP00000339115:p.Leu275Phe					ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	4	1086	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	275					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.823C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388675	0.82902	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;D	0.81996	-1.3;-1.56	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.49916	U	0.000140	D	0.90933	0.7150	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.91720	0.5388	10	0.72032	D	0.01	-31.9858	16.3304	0.83010	0.0:1.0:0.0:0.0	.	275;275	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	275	ENSP00000339115:L275F;ENSP00000386577:L275F	ENSP00000339115:L275F	L	+	1	0	ESPNL	238681321	1.000000	0.71417	0.317000	0.25265	0.941000	0.58515	5.079000	0.64431	2.580000	0.87095	0.655000	0.94253	CTC		0.642	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		41	123	0	0	0	1	0	41	123					T	239016582	C	T	239016582	3	4	79	1	0	0	0	0	1	0	0	0	5273	681	24	2	837	2	ESPNL	2	239016582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7475	239016582	4182791	3651	13968											
ESPNL	339768	broad.mit.edu	37	chr2	239040166	239040166	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcccgcctgggatacGgagcctggccgcaagtcagg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000409506.1_Silent_p.T569T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(2809-2811)acG>acT		espin-like							12	15	14					2																	239040166		2185	4276	6461	SO:0001819	synonymous_variant	339768							g.chr2:239040166G>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2811G>T	2.37:g.239040166G>T						ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000409506.1_Silent_p.T569T	p.T937T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3074	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	937					Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	c.2811G>T	CCDS2525.1																																																																																				0.726	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		33	145	1	0	5.91797e-21	1	6.65236e-21	33	145					T	239040166	G	T	239040166	2	4	79	1	0	0	0	0	0	0	0	1	5273	1103	39	3		3	ESPNL	2	239040166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23584	239040166	4159207	3652	13969											
KLHL30	377007	broad.mit.edu	37	chr2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcgtggctgccaaggCctgggccttcctgcgagaga	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	154	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657																																						ENST00000409223.1																			0				lung(4)	4						c.(460-462)gCc>gAc		kelch-like family member 30							19	25	23					2																	239049856		2140	4245	6385	SO:0001583	missense	377007							g.chr2:239049856C>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.461C>A	2.37:g.239049856C>A	ENSP00000386389:p.Ala154Asp					KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D	p.A154D			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	568	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	154			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.461C>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	c	29.7	5.027365	0.93518	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73469	-0.75;-0.75	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.056170	0.64402	D	0.000001	D	0.90147	0.6921	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	10	0.87932	D	0	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	154	Q0D2K2	KLH30_HUMAN	D	154;136	ENSP00000386389:A154D;ENSP00000302386:A136D	ENSP00000302386:A136D	A	+	2	0	KLHL30	238714595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.647000	0.83462	2.671000	0.90904	0.651000	0.88453	GCC		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		33	155	1	0	6.05902e-23	1	6.8732e-23	33	155					A	239049856	C	A	239049856	3	1	79	1	0	0	0	0	1	0	0	0	8414	739	26	3	463	3	KLHL30	2	239049856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9690	239049856	4149517	3653	13970											
KLHL30	377007	broad.mit.edu	37	chr2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggagatctacgttatcGgcggtgaggccttcctctcc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	383										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657																																						ENST00000409223.1																			0				lung(4)	4						c.(1147-1149)Ggc>Agc		kelch-like family member 30							21	29	27					2																	239054470		2048	4180	6228	SO:0001583	missense	377007							g.chr2:239054470G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1147G>A	2.37:g.239054470G>A	ENSP00000386389:p.Gly383Ser					KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S	p.G383S			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	5	1254	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	383					Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.1147G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838659	0.71373	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.98792	-5.14;-5.14	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.065440	0.64402	D	0.000010	D	0.99275	0.9747	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	383	Q0D2K2	KLH30_HUMAN	S	383;365	ENSP00000386389:G383S;ENSP00000302386:G365S	ENSP00000302386:G365S	G	+	1	0	KLHL30	238719209	1.000000	0.71417	0.096000	0.21009	0.173000	0.22820	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	GGC		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		25	50	0	0	0	1	0	25	50					A	239054470	G	A	239054470	3	1	79	1	0	0	0	0	1	0	0	0	8414	1116	39	1	1161	1	KLHL30	2	239054470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4614	239054470	4144903	3654	13971											
KLHL30	377007	broad.mit.edu	37	chr2	239056536	239056536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacggacagctggacgccCgtcagcccggccctcaaata	10	16	2	0	rs549619998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	404										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687																																						ENST00000409223.1																			0				lung(4)	4						c.(1210-1212)ccC>ccT		kelch-like family member 30							27	31	30					2																	239056536		1888	4091	5979	SO:0001819	synonymous_variant	377007							g.chr2:239056536C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1212C>T	2.37:g.239056536C>T						KLHL30_ENST00000305959.4_Silent_p.P386P	p.P404P			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	6	1319	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	404					Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1212C>T	CCDS46555.2																																																																																				0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		25	133	0	0	0	1	0	25	133					T	239056536	C	T	239056536	2	4	79	1	0	0	0	0	0	0	0	1	8414	639	23	1		1	KLHL30	2	239056536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	239056536	4142837	3655	13972											
KLHL30	377007	broad.mit.edu	37	chr2	239059487	239059487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctgcatgagaatggCgcgctggtgccactgggtga	15	11	0	2	rs545573277	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16906	0.0		0.0	False		,,,				2504	0.0					ENST00000409223.1																			0				lung(4)	4						c.(1516-1518)ggC>ggT		kelch-like family member 30							18	24	22					2																	239059487		2181	4265	6446	SO:0001819	synonymous_variant	377007							g.chr2:239059487C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1518C>T	2.37:g.239059487C>T						KLHL30_ENST00000305959.4_Silent_p.G488G	p.G506G			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1625	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	506					Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1518C>T	CCDS46555.2																																																																																				0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		18	36	0	0	0	1	0	18	36					T	239059487	C	T	239059487	2	4	79	1	0	0	0	0	0	0	0	1	8414	755	27	1		1	KLHL30	2	239059487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2951	239059487	4139886	3656	13973											
HES6	55502	broad.mit.edu	37	chr2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgtcgatggcctggcaCgtggacacgaacgtgtgcac	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	HES6_ENST00000409574.1_Missense_Mutation_p.R100H|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409182.1_Silent_p.T84T	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2			hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672																																						ENST00000409160.3																			0				lung(1)|skin(1)	2						c.(574-576)Gtg>Atg		hes family bHLH transcription factor 6							28	27	27					2																	239147804		2199	4292	6491	SO:0001583	missense	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147804C>T	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"Basic helix-loop-helix proteins"	18254	protein-coding gene	gene with protein product		610331	"hairy and enhancer of split 6 (Drosophila)"			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000409160.3:c.574G>A	2.37:g.239147804C>T	ENSP00000387215:p.Val192Met					HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409182.1_Silent_p.T84T|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	p.V192M	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	706	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Missense_Mutation	SNP	ENST00000409160.3	37	c.574G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.26|18.26	3.583903|3.583903	0.65992|0.65992	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000409574|ENST00000409160	T|T	0.74421|0.76448	-0.84|-1.02	3.56|3.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|T	0.80544|0.80544	0.4643|0.4643	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.57468	.|0.821	T|T	0.80643|0.80643	-0.1291|-0.1291	6|8	0.62326|0.87932	D|D	0.03|0	.|.	5.4746|5.4746	0.16688|0.16688	0.1954:0.5149:0.2897:0.0|0.1954:0.5149:0.2897:0.0	.|.	.|192	.|Q96HZ4-2	.|.	H|M	100|192	ENSP00000387008:R100H|ENSP00000387215:V192M	ENSP00000387008:R100H|ENSP00000387215:V192M	R|V	-|-	2|1	0|0	HES6|HES6	238812543|238812543	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.481000|0.481000	0.22260|0.22260	1.771000|1.771000	0.52183|0.52183	0.290000|0.290000	0.19541|0.19541	CGT|GTG		0.672	HES6-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328359.1	NM_018645		23	237	0	0	0	1	0	23	237					T	239147804	C	T	239147804	3	4	79	1	0	0	0	0	1	0	0	0	7100	523	19	1	339	1	HES6	2	239147804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88317	239147804	4051569	3657	13974											
PER2	8864	broad.mit.edu	37	chr2	239159221	239159221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtacgtcatcatgacGctgctgtccgcatctgccat	10	13	3	1	rs140643763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239159221G>A	ENST00000254657.3	-	21	3717	c.3438C>T	c.(3436-3438)agC>agT	p.S1146S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1146					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)			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)		TCATCATGACGCTGCTGTCCG	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20545	0.0		0.0	False		,,,				2504	0.0					ENST00000254657.3																			0				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						c.(3436-3438)agC>agT		period circadian clock 2		G		5,4401	11.4+/-27.6	0,5,2198	154	123	134		3438	-6.9	0	2	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	PER2	NM_022817.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		1146/1256	239159221	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239159221G>A	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.3438C>T	2.37:g.239159221G>A						PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.S1146S	NM_022817.2	NP_073728.1	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)	21	3717	-		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)	1146					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3438C>T	CCDS2528.1																																																																																				0.532	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	120	0	0	0	1	0	5	120					A	239159221	G	A	239159221	2	1	79	1	0	0	0	0	0	0	0	1	11772	1078	38	1		1	PER2	2	239159221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11417	239159221	4040152	3658	13975											
PER2	8864	broad.mit.edu	37	chr2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctggacaagcacatgGctgtctggggatcgaggtcc	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	959	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				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)			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)		CAAGCACATGGCTGTCTGGGG	0.667																																						ENST00000254657.3																			0				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						c.(2875-2877)Cca>Aca		period circadian clock 2							48	48	48					2																	239161789		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.chr2:239161789G>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.2875C>A	2.37:g.239161789G>T	ENSP00000254657:p.Pro959Thr					PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.P959T	NM_022817.2	NP_073728.1	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)	19	3154	-		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)	959			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2875C>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220607	0.06061	.	.	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.24	2.43	0.29744	.	3.118280	0.01951	U	0.042658	T	0.20251	0.0487	M	0.75264	2.295	0.09310	N	0.999999	B;B	0.30068	0.267;0.164	B;B	0.28139	0.086;0.06	T	0.26292	-1.0107	10	0.38643	T	0.18	-9.1142	6.8517	0.24018	0.3024:0.0:0.6976:0.0	.	959;959	B4DH14;O15055	.;PER2_HUMAN	T	959	ENSP00000254657:P959T	ENSP00000254657:P959T	P	-	1	0	PER2	238826528	0.035000	0.19736	0.002000	0.10522	0.034000	0.12701	1.910000	0.39927	0.514000	0.28300	-0.126000	0.14955	CCA		0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		123	365	1	0	6.83383e-50	1	8.46023e-50	123	365					T	239161789	G	T	239161789	3	4	79	1	0	0	0	0	1	0	0	0	11772	1203	42	3	912	3	PER2	2	239161789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	239161789	4037584	3659	13976											
PER2	8864	broad.mit.edu	37	chr2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaagaaggcctgggGcaggtttggggtccccgagg	21	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	921	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				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)			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)		AAGGCCTGGGGCAGGTTTGGG	0.627																																						ENST00000254657.3																			0				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						c.(2761-2763)Ccc>Tcc		period circadian clock 2							41	47	45					2																	239161903		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.chr2:239161903G>A	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.2761C>T	2.37:g.239161903G>A	ENSP00000254657:p.Pro921Ser					PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.P921S	NM_022817.2	NP_073728.1	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)	19	3040	-		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)	921			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2761C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.974	0.363685	0.11296	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	3.89	3.89	0.44902	.	0.717806	0.10729	U	0.640805	T	0.11153	0.0272	L	0.38838	1.175	0.31370	N	0.680264	B;B	0.34290	0.447;0.192	B;B	0.28638	0.092;0.033	T	0.05194	-1.0900	10	0.14656	T	0.56	-28.9827	14.1684	0.65493	0.0:0.0:1.0:0.0	.	921;921	B4DH14;O15055	.;PER2_HUMAN	S	921	ENSP00000254657:P921S	ENSP00000254657:P921S	P	-	1	0	PER2	238826642	0.997000	0.39634	0.939000	0.37840	0.168000	0.22595	2.642000	0.46596	2.102000	0.63906	0.549000	0.68633	CCC		0.627	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		74	384	0	0	0	1	0	74	384					A	239161903	G	A	239161903	3	1	79	1	0	0	0	0	1	0	0	0	11772	1203	42	2	1026	2	PER2	2	239161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	239161903	4037470	3660	13977											
PER2	8864	broad.mit.edu	37	chr2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggaggtgaaactgtggaAcacgcccacatcgtgaggcg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	239	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			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)		AAACTGTGGAACACGCCCACA	0.537																																						ENST00000254657.3																			0				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						c.(715-717)Ttc>Ctc		period circadian clock 2							144	126	132					2																	239180010		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.chr2:239180010A>G	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.715T>C	2.37:g.239180010A>G	ENSP00000254657:p.Phe239Leu					PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L	p.F239L	NM_022817.2	NP_073728.1	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)	6	994	-		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)	239			PAS 1.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.715T>C	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987642	0.74589	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.58210	2.42;0.35;1.66;0.35	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.982;1.0;0.999	D;D;D;D	0.91635	0.997;0.952;0.999;0.998	T	0.77520	-0.2557	10	0.52906	T	0.07	-35.2439	13.0997	0.59212	1.0:0.0:0.0:0.0	.	239;239;239;239	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	239	ENSP00000254657:F239L;ENSP00000254658:F239L;ENSP00000397516:F239L;ENSP00000348013:F239L	ENSP00000254657:F239L	F	-	1	0	PER2	238844749	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTC		0.537	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		127	477	0	0	0	1	0	127	477					G	239180010	A	G	239180010	3	3	79	1	0	0	0	0	1	0	0	0	11772	43	2	4	3124	4	PER2	2	239180010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18107	239180010	4019363	3661	13978											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239234548	239234548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagcccgaatcgtggcGgggcatgagcctgaaagaac	13	11	0	3	rs377279034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391993.3_Silent_p.A97A|TRAF3IP1_ENST00000391994.2_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	97	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(289-291)gcG>gcA		TNF receptor-associated factor 3 interacting protein 1		G	,	0,4406		0,0,2203	79	72	74		291,291	-8.7	0.3	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAF3IP1	NM_001139490.1,NM_015650.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	97/626,97/692	239234548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239234548G>A	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.291G>A	2.37:g.239234548G>A						TRAF3IP1_ENST00000391993.3_Silent_p.A97A|TRAF3IP1_ENST00000391994.2_Silent_p.A97A	p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	3	513	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	97			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	37	c.291G>A	CCDS33415.1																																																																																				0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		76	214	0	0	0	1	0	76	214					A	239234548	G	A	239234548	2	1	79	1	0	0	0	0	0	0	0	1	16493	1103	39	1		1	TRAF3IP1	2	239234548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54538	239234548	3964825	3662	13979											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtcggcatggaagaAggagaaggacatcgtttcca	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	574	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1720-1722)aAg>aCg		TNF receptor-associated factor 3 interacting protein 1							111	107	108					2																	239306131		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239306131A>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1721A>C	2.37:g.239306131A>C	ENSP00000362424:p.Lys574Thr					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T	p.K574T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	16	1943	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	574			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1721A>C	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447268	0.84101	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72338	0.977;0.937	T	0.12218	-1.0556	10	0.72032	D	0.01	-44.9473	11.4061	0.49898	0.9275:0.0:0.0724:0.0	.	508;574	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	508;574;574;508	ENSP00000375851:K508T;ENSP00000362424:K574T;ENSP00000375852:K574T	ENSP00000362424:K574T	K	+	2	0	TRAF3IP1	238970870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.663000	0.61532	2.062000	0.61559	0.533000	0.62120	AAG		0.552	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		114	391	0	0	0	1	0	114	391					C	239306131	A	C	239306131	3	2	79	1	0	0	0	0	1	0	0	0	16493	72	3	4	1783	4	TRAF3IP1	2	239306131	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71583	239306131	3893242	3663	13980											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctccgcacgtccatccaGaccctgtgcaagagcgcact	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	591	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1771-1773)caG>caT		TNF receptor-associated factor 3 interacting protein 1							106	99	102					2																	239306183		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239306183G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1773G>T	2.37:g.239306183G>T	ENSP00000362424:p.Gln591His					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H	p.Q591H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	16	1995	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	591			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1773G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983062	0.93044	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.59502	0.26;0.26;0.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83168	-0.0095	10	0.87932	D	0	-46.5263	19.0814	0.93185	0.0:0.0:1.0:0.0	.	525;591	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	525;591;591;525	ENSP00000375851:Q525H;ENSP00000362424:Q591H;ENSP00000375852:Q591H	ENSP00000362424:Q591H	Q	+	3	2	TRAF3IP1	238970922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.262000	0.78410	2.514000	0.84764	0.655000	0.94253	CAG		0.542	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		89	317	1	0	1.68508e-47	1	2.07469e-47	89	317					T	239306183	G	T	239306183	3	4	79	1	0	0	0	0	1	0	0	0	16493	933	33	3	1835	3	TRAF3IP1	2	239306183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	239306183	3893190	3664	13981											
HDAC4	9759	broad.mit.edu	37	chr2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcgggaccagatgcTctggatcctcccggcgtgct	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	684	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACCAGATGCTCTGGATCCTC	0.682																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2050-2052)Agc>Ggc		histone deacetylase 4							28	28	28					2																	240029793		2194	4299	6493	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240029793T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2050A>G	2.37:g.240029793T>C	ENSP00000264606:p.Ser684Gly					HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	p.S684G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	15	2841	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	684			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2050A>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518191	0.85495	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.70986	-0.53;-0.53;-0.53	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.998;1.0;1.0;0.999	P;D;D;D;D;D	0.85130	0.741;0.997;0.988;0.997;0.988;0.987	D	0.87265	0.2282	10	0.87932	D	0	.	13.2665	0.60137	0.0:0.0:0.0:1.0	.	684;567;658;658;652;684	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	684;572;268;658;567	ENSP00000264606:S684G;ENSP00000440481:S268G;ENSP00000443057:S658G	ENSP00000264606:S684G	S	-	1	0	HDAC4	239694730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	1.598000	0.50083	0.460000	0.39030	AGC		0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		54	160	0	0	0	1	0	54	160					C	240029793	T	C	240029793	3	2	79	1	0	0	0	0	1	0	0	0	7039	1551	54	4	1256	4	HDAC4	2	240029793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	723610	240029793	3169580	3665	13982											
HDAC4	9759	broad.mit.edu	37	chr2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttggtggggggctcctGcacagacacggggaaggtgg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	644					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGGCTCCTGCACAGACACG	0.701																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1930-1932)Cag>Tag		histone deacetylase 4							26	23	24					2																	240033255		2199	4300	6499	SO:0001587	stop_gained	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240033255G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1930C>T	2.37:g.240033255G>A	ENSP00000264606:p.Gln644*					HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*	p.Q644*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	14	2721	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	644					Q9UND6	Nonsense_Mutation	SNP	ENST00000345617.3	37	c.1930C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730069	0.98456	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	.	.	.	4.15	4.15	0.48705	.	0.567018	0.18426	N	0.141592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.8141	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	644;532;228;618;527	.	ENSP00000264606:Q644X	Q	-	1	0	HDAC4	239698192	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	8.974000	0.93433	2.038000	0.60285	0.591000	0.81541	CAG		0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		9	132	0	0	0	1	0	9	132					A	240033255	G	A	240033255	4	1	79	1	0	0	0	0	0	1	0	0	7039	1328	46	2	1380	2	HDAC4	2	240033255	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3462	240033255	3166118	3666	13983											
HDAC4	9759	broad.mit.edu	37	chr2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggagggggacacccGgtctgcaccaaccaaggact	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W|HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	448					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGACACCCGGTCTGCACCA	0.637																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1342-1344)Cgg>Tgg		histone deacetylase 4							35	41	39					2																	240048328		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240048328G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1342C>T	2.37:g.240048328G>A	ENSP00000264606:p.Arg448Trp					HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W|HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W	p.R448W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	12	2133	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	448					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1342C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766312	0.69878	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.69685	0.06;-0.42;1.22	4.46	3.55	0.40652	.	0.096845	0.43110	D	0.000618	T	0.80199	0.4579	M	0.78456	2.415	0.44880	D	0.99789	D;D;P;D;D;D	0.89917	0.999;1.0;0.803;1.0;0.999;0.998	D;D;B;D;P;P	0.79784	0.952;0.985;0.164;0.993;0.739;0.784	T	0.80888	-0.1181	9	.	.	.	.	12.9074	0.58160	0.0:0.0:0.6027:0.3973	.	448;331;422;422;416;448	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	W	448;336;32;422;331	ENSP00000264606:R448W;ENSP00000440481:R32W;ENSP00000443057:R422W	.	R	-	1	2	HDAC4	239713265	0.427000	0.25514	0.960000	0.40013	0.979000	0.70002	1.296000	0.33389	0.956000	0.37904	0.563000	0.77884	CGG		0.637	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		84	240	0	0	0	1	0	84	240					A	240048328	G	A	240048328	3	1	79	1	0	0	0	0	1	0	0	0	7039	1115	39	1	1976	1	HDAC4	2	240048328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15073	240048328	3151045	3667	13984											
NDUFA10	4705	broad.mit.edu	37	chr2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctccaatggtgactTccgggagaaagataggaatg	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000252711.2	-	9	1047	c.947A>T	c.(946-948)gAa>gTa	p.E316V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	316					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATGGTGACTTCCGGGAGAAA	0.443																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(946-948)gAa>gTa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						124	114	117					2																	240929543		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240929543T>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.947A>T	2.37:g.240929543T>A	ENSP00000252711:p.Glu316Val					NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	p.E316V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	9	1047	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	316					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.947A>T	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247391	0.39697	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000448880;ENST00000307300	D;D;D;D	0.87729	-1.91;-2.06;-2.1;-2.29	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.93527	0.6866	10	0.87932	D	0	-27.0026	11.0376	0.47811	0.0:0.0:0.0:1.0	.	346;316	Q8WXC9;O95299	.;NDUAA_HUMAN	V	81;316;316;316;220;79;346	ENSP00000252711:E316V;ENSP00000385697:E316V;ENSP00000411527:E220V;ENSP00000302321:E346V	ENSP00000252711:E316V	E	-	2	0	NDUFA10	240578216	0.478000	0.25917	0.721000	0.30653	0.018000	0.09664	3.088000	0.50175	1.937000	0.56155	0.460000	0.39030	GAA		0.443	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		118	323	0	0	0	1	0	118	323					A	240929543	T	A	240929543	3	1	79	1	0	0	0	0	1	0	0	0	10302	1783	62	5	128	5	NDUFA10	2	240929543	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	881215	240929543	2269830	3668	13985											
NDUFA10	4705	broad.mit.edu	37	chr2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgccattatagtcggtggCgaggggcttcccatctcctg	13	11	1	0	rs529791334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000252711.2	-	3	413	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	105					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TAGTCGGTGGCGAGGGGCTTC	0.488											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(313-315)Gcc>Acc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						91	91	91					2																	240960761		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960761C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.313G>A	2.37:g.240960761C>T	ENSP00000252711:p.Ala105Thr		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	413	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	105					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.313G>A	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892791	0.17613	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	T;T;T;T;T	0.77489	-1.1;-1.1;-1.06;-1.08;-1.06	4.25	1.38	0.22167	.	0.804462	0.11893	N	0.519457	T	0.61211	0.2329	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44817	-0.9303	10	0.27785	T	0.31	-16.1577	4.4684	0.11700	0.0:0.4281:0.3652:0.2067	.	105;105;110;105	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	T	105	ENSP00000252711:A105T;ENSP00000385697:A105T;ENSP00000411527:A105T;ENSP00000302321:A105T;ENSP00000383975:A105T	ENSP00000252711:A105T	A	-	1	0	NDUFA10	240609434	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.501000	0.22578	0.496000	0.27904	0.563000	0.77884	GCC		0.488	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		73	208	0	0	0	1	0	73	208					T	240960761	C	T	240960761	3	4	79	1	0	0	0	0	1	0	0	0	10302	768	27	1	786	1	NDUFA10	2	240960761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31218	240960761	2238612	3669	13986											
OR6B2	389090	broad.mit.edu	37	chr2	240969775	240969775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaggaagagcaggtaCtgcagccctggggccgtggg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(70-72)caG>caA		olfactory receptor, family 6, subfamily B, member 2							46	51	50					2																	240969775		2043	4191	6234	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969775C>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.72G>A	2.37:g.240969775C>T							p.Q24Q	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	131	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	24					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.72G>A	CCDS46559.1																																																																																				0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		97	242	0	0	0	1	0	97	242					T	240969775	C	T	240969775	2	4	79	1	0	0	0	0	0	0	0	1	11230	564	20	2		2	OR6B2	2	240969775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9014	240969775	2229598	3670	13987											
MYEOV2	150678	broad.mit.edu	37	chr2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtctgcatgaacggccTtttcattggctgccaagtcc	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000607357.1	-	2	128	c.110A>C	c.(109-111)aAg>aCg	p.K37T	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.K68T	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(202-204)aAg>aCg		myeloma overexpressed 2							123	127	126					2																	241073376		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073376T>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.110A>C	2.37:g.241073376T>G	ENSP00000475979:p.Lys37Thr					MYEOV2_ENST00000607357.1_Missense_Mutation_p.K37T|MYEOV2_ENST00000489698.1_5'UTR	p.K68T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	202	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	37					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.203A>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.280652	0.80692	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.77705	0.4170	.	.	.	0.80722	D	1	D;D	0.67145	0.968;0.996	D;D	0.75484	0.969;0.986	T	0.80828	-0.1208	8	0.87932	D	0	-11.1793	12.1591	0.54093	0.0:0.0:0.0:1.0	.	37;68	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	T	68;58	.	ENSP00000304147:K68T	K	-	2	0	MYEOV2	240722049	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.262000	0.72514	1.817000	0.53016	0.528000	0.53228	AAG		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		81	480	0	0	0	1	0	81	480					G	241073376	T	G	241073376	3	3	79	1	0	0	0	0	1	0	0	0	10067	1609	56	4	575	4	MYEOV2	2	241073376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103601	241073376	2125997	3671	13988											
MYEOV2	150678	broad.mit.edu	37	chr2	241073406	241073406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaagtccatcaagagcCcggtgctgcctcccgcctgg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073406C>T	ENST00000607357.1	-	2	98	c.80G>A	c.(79-81)gGg>gAg	p.G27E	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.G58E	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	27										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CATCAAGAGCCCGGTGCTGCC	0.498																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(172-174)gGg>gAg		myeloma overexpressed 2							98	105	103					2																	241073406		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073406C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.80G>A	2.37:g.241073406C>T	ENSP00000475979:p.Gly27Glu					MYEOV2_ENST00000607357.1_Missense_Mutation_p.G27E|MYEOV2_ENST00000489698.1_5'UTR	p.G58E	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	172	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	27					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.173G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.457887	0.84317	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.78842	0.4347	.	.	.	0.80722	D	1	P;D	0.89917	0.476;1.0	B;D	0.79108	0.219;0.992	T	0.82311	-0.0520	8	0.87932	D	0	-2.6468	15.1841	0.72986	0.0:1.0:0.0:0.0	.	27;58	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	E	58;48	.	ENSP00000304147:G58E	G	-	2	0	MYEOV2	240722079	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	4.459000	0.60102	2.240000	0.73641	0.650000	0.86243	GGG		0.498	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		11	519	0	0	0	1	0	11	519					T	241073406	C	T	241073406	3	4	79	1	0	0	0	0	1	0	0	0	10067	623	22	2	605	2	MYEOV2	2	241073406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	241073406	2125967	3672	13989											
ANKMY1	51281	broad.mit.edu	37	chr2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaagagcttgtcatggGcaggtggtcactgttggtcg	17	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000272972.3	-	4	755	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000361678.4_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	181							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(541-543)Ccc>Tcc		ankyrin repeat and MYND domain containing 1							149	146	147					2																	241468599		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468599G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.541C>T	2.37:g.241468599G>A	ENSP00000272972:p.Pro181Ser					ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P181S	p.P181S			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	907	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	181					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.541C>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064013|3.064013	0.55432|0.55432	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.075541	.|0.52532	.|D	.|0.000066	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69308|0.69308	-0.5179|-0.5179	5|10	.|0.62326	.|D	.|0.03	-6.3456|-6.3456	16.267|16.267	0.82593|0.82593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	V|S	125|181;181;270;181;181	.|ENSP00000272972:P181S;ENSP00000375847:P181S;ENSP00000385887:P270S;ENSP00000407015:P181S	.|ENSP00000272972:P181S	A|P	-|-	2|1	0|0	ANKMY1|ANKMY1	241117272|241117272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	4.237000|4.237000	0.58681|0.58681	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.468	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		108	390	0	0	0	1	0	108	390					A	241468599	G	A	241468599	3	1	79	1	0	0	0	0	1	0	0	0	634	1203	42	2	2340	2	ANKMY1	2	241468599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395193	241468599	1730774	3673	13990											
ANKMY1	51281	broad.mit.edu	37	chr2	241492362	241492362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcttcatgtacatggtgCcgtagccttctcggtggctg	13	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241492362C>A	ENST00000272972.3	-	3	396	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	61							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTACATGGTGCCGTAGCCTTC	0.557																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(181-183)gGc>gTc		ankyrin repeat and MYND domain containing 1							116	101	106					2																	241492362		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241492362C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.182G>T	2.37:g.241492362C>A	ENSP00000272972:p.Gly61Val					ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.G61V	p.G61V			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	548	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	61					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.182G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779807	0.49891	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000539830;ENST00000441168;ENST00000418708;ENST00000418505	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.63;0.53;0.53;0.53;0.53;0.53;0.53	4.87	4.87	0.63330	.	0.301070	0.30347	N	0.009840	T	0.81645	0.4866	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.984;1.0;1.0;1.0;1.0;1.0;0.998	D	0.88007	0.2760	10	0.87932	D	0	.	15.849	0.78912	0.0:1.0:0.0:0.0	.	61;61;103;61;150;150;150;61	Q4ZFV3;C9J176;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;.;ANKY1_HUMAN	V	150;150;61;150;61;61;229;150;103;150;61;61;103;61;61	ENSP00000362415:G150V;ENSP00000384555:G150V;ENSP00000272972:G61V;ENSP00000355097:G150V;ENSP00000375847:G61V;ENSP00000362417:G61V;ENSP00000383968:G229V;ENSP00000385887:G150V;ENSP00000444707:G103V;ENSP00000385635:G150V;ENSP00000385145:G61V;ENSP00000405938:G103V;ENSP00000407015:G61V;ENSP00000412094:G61V	ENSP00000272972:G61V	G	-	2	0	ANKMY1	241141035	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.299000	0.59073	2.437000	0.82529	0.655000	0.94253	GGC		0.557	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		7	285	1	0	8.12818e-05	1	8.2724e-05	7	285					A	241492362	C	A	241492362	3	1	79	1	0	0	0	0	1	0	0	0	634	739	26	3	2703	3	ANKMY1	2	241492362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23763	241492362	1707011	3674	13991											
AQP12B	653437	broad.mit.edu	37	chr2	241622183	241622183	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggagcagggccttggaGgcccgcctggctgcctcaca	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	24						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A24A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672																																						ENST00000407834.3																			1	Substitution - coding silent(1)	p.A24A(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(70-72)gcC>gcA		aquaporin 12B							37	44	41					2																	241622183		2188	4288	6476	SO:0001819	synonymous_variant	653437					integral to membrane	transporter activity	g.chr2:241622183G>T	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.72C>A	2.37:g.241622183G>T							p.A24A	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	134	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	24					A4QPB9	Silent	SNP	ENST00000407834.3	37	c.72C>A	CCDS46560.1																																																																																				0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			16	379	1	0	1.3612e-06	1	1.40558e-06	16	379					T	241622183	G	T	241622183	2	4	79	1	0	0	0	0	0	0	0	1	825	987	35	3		3	AQP12B	2	241622183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129821	241622183	1577190	3675	13992											
KIF1A	547	broad.mit.edu	37	chr2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagacctccttctggagagCttggacctgcagaagagttg	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000320389.7	-	47	5195	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1679					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5338-5340)aaG>aaT		kinesin family member 1A							57	71	67					2																	241656817		2085	4207	6292	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241656817C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5037G>T	2.37:g.241656817C>A	ENSP00000322791:p.Lys1679Asn					KIF1A_ENST00000320389.7_Missense_Mutation_p.K1679N	p.K1780N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	49	5586	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1679					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5340G>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086776	0.76642	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75154	-0.83;-0.91	4.47	3.57	0.40892	.	0.114821	0.56097	U	0.000025	D	0.82806	0.5117	M	0.70275	2.135	0.47214	D	0.999357	D;D	0.76494	0.984;0.999	P;D	0.78314	0.844;0.991	D	0.84048	0.0368	10	0.87932	D	0	.	9.8734	0.41189	0.0:0.8329:0.0:0.1671	.	1780;1679	F5H045;Q12756	.;KIF1A_HUMAN	N	1679;1780;1788	ENSP00000322791:K1679N;ENSP00000438388:K1780N	ENSP00000322791:K1679N	K	-	3	2	KIF1A	241305490	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.958000	0.40402	2.189000	0.69895	0.563000	0.77884	AAG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		106	386	1	0	1.15629e-50	1	1.43295e-50	106	386					A	241656817	C	A	241656817	3	1	79	1	0	0	0	0	1	0	0	0	8313	796	28	3	39	3	KIF1A	2	241656817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34634	241656817	1542556	3676	13993											
KIF1A	547	broad.mit.edu	37	chr2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagctgtcccacgcagcCtcaaattggtaaaaggtcct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000320389.7	-	37	3881	c.3723G>T	c.(3721-3723)gaG>gaT	p.E1241D	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1241					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4024-4026)gaG>gaT		kinesin family member 1A							52	54	53					2																	241666339		2044	4219	6263	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241666339C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3723G>T	2.37:g.241666339C>A	ENSP00000322791:p.Glu1241Asp					KIF1A_ENST00000320389.7_Missense_Mutation_p.E1241D	p.E1342D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	39	4272	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1241					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4026G>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425037|3.425037	0.62733|0.62733	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.75589|.	-0.81;-0.89;-0.95|.	4.62|4.62	-0.146|-0.146	0.13432|0.13432	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.78456|0.78456	2.415|2.415	0.45227|0.45227	D|D	0.998237|0.998237	B;B;P|.	0.43431|.	0.149;0.05;0.807|.	B;B;B|.	0.41946|.	0.109;0.041;0.371|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.46703|.	T|.	0.11|.	.|.	9.9148|9.9148	0.41427|0.41427	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	1342;1350;1241|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	D|M	1241;1342;1350;1350|174	ENSP00000322791:E1241D;ENSP00000438388:E1342D;ENSP00000384231:E1350D|.	ENSP00000322791:E1241D|.	E|R	-|-	3|2	2|0	KIF1A|KIF1A	241315012|241315012	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.756000|0.756000	0.42949|0.42949	1.795000|1.795000	0.38784|0.38784	0.056000|0.056000	0.16144|0.16144	-0.237000|-0.237000	0.12165|0.12165	GAG|AGG		0.527	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		22	69	1	0	2.89027e-11	1	3.08062e-11	22	69					A	241666339	C	A	241666339	3	1	79	1	0	0	0	0	1	0	0	0	8313	680	24	3	1393	3	KIF1A	2	241666339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	241666339	1533034	3677	13994											
KIF1A	547	broad.mit.edu	37	chr2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagggcacctctgcagCgcggtcgtacatctcccgca	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000320389.7	-	25	2613	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	819					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2482-2484)Gct>Act		kinesin family member 1A							51	59	56					2																	241697877		2170	4267	6437	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241697877C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2455G>A	2.37:g.241697877C>T	ENSP00000322791:p.Ala819Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A819T	p.A828T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2728	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	819					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2482G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813877	0.96975	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76968	-1.06;-1.06;-1.06	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.85128	0.5626	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.879;1.0;1.0	P;D;D	0.79784	0.559;0.97;0.993	T	0.80826	-0.1209	10	0.15952	T	0.53	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	828;828;819	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	819;828;828;828	ENSP00000322791:A819T;ENSP00000438388:A828T;ENSP00000384231:A828T	ENSP00000322791:A819T	A	-	1	0	KIF1A	241346550	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	7.571000	0.82399	2.473000	0.83533	0.591000	0.81541	GCT		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	94	0	0	0	1	0	11	94					T	241697877	C	T	241697877	3	4	79	1	0	0	0	0	1	0	0	0	8313	768	27	1	2709	1	KIF1A	2	241697877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31538	241697877	1501496	3678	13995											
KIF1A	547	broad.mit.edu	37	chr2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccggatggcttctgtccGccgcagcttctcctcccagg	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000320389.7	-	15	1527	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	457					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1396-1398)Cgg>Tgg		kinesin family member 1A							83	81	81					2																	241709069		2115	4250	6365	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241709069G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1369C>T	2.37:g.241709069G>A	ENSP00000322791:p.Arg457Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R457W	p.R466W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	16	1642	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	457					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1396C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851725	0.71719	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.63;-0.71;-0.78	4.39	-0.253	0.12996	.	0.200297	0.36066	U	0.002811	D	0.83225	0.5208	M	0.76170	2.325	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;0.987	D;D;P	0.75484	0.963;0.986;0.76	D	0.84476	0.0602	10	0.87932	D	0	.	13.2152	0.59856	0.0:0.0:0.3248:0.6752	.	466;466;457	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	457;466;466;466	ENSP00000322791:R457W;ENSP00000438388:R466W;ENSP00000384231:R466W	ENSP00000322791:R457W	R	-	1	2	KIF1A	241357742	0.394000	0.25246	0.995000	0.50966	0.977000	0.68977	0.811000	0.27198	0.295000	0.22570	0.585000	0.79938	CGG		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		28	137	0	0	0	1	0	28	137					A	241709069	G	A	241709069	3	1	79	1	0	0	0	0	1	0	0	0	8313	1086	38	1	3835	1	KIF1A	2	241709069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11192	241709069	1490304	3679	13996											
KIF1A	547	broad.mit.edu	37	chr2	241737164	241737164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccttcaccgaagccccGgccatctctgtggccttcgt	9	18	2	0	rs371266160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241737164G>A	ENST00000320389.7	-	2	164	c.6C>T	c.(4-6)gcC>gcT	p.A2A	KIF1A_ENST00000498729.2_Silent_p.A2A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	2					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGAAGCCCCGGCCATCTCTG	0.562																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4-6)gcC>gcT		kinesin family member 1A		G		0,3884		0,0,1942	23	26	25		6	-5.2	1	2		25	1,8257		0,1,4128	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6070	AA,AG,GG		0.0121,0.0,0.0082		2/1691	241737164	1,12141	1942	4129	6071	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241737164G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.6C>T	2.37:g.241737164G>A						KIF1A_ENST00000320389.7_Silent_p.A2A	p.A2A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	252	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	2			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.6C>T	CCDS46561.1																																																																																				0.562	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	82	0	0	0	1	0	5	82					A	241737164	G	A	241737164	2	1	79	1	0	0	0	0	0	0	0	1	8313	1103	39	1		1	KIF1A	2	241737164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28095	241737164	1462209	3680	13997											
AGXT	189	broad.mit.edu	37	chr2	241808766	241808766	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagcgagccgtggacatCggggagcgcataggtaaggg	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	115					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CCGTGGACATCGGGGAGCGCA	0.657																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(343-345)atC>atT		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						55	56	56					2																	241808766		2203	4300	6503	SO:0001819	synonymous_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808766C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.345C>T	2.37:g.241808766C>T							p.I115I	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	732	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	115					Q53QU6	Silent	SNP	ENST00000307503.3	37	c.345C>T	CCDS2543.1																																																																																				0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		60	343	0	0	0	1	0	60	343					T	241808766	C	T	241808766	2	4	79	1	0	0	0	0	0	0	0	1	404	874	31	1		1	AGXT	2	241808766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71602	241808766	1390607	3681	13998											
AGXT	189	broad.mit.edu	37	chr2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacttctggggctgtgacGaccagcccaggatgtgaggc	14	12	1	2	rs547633289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	255					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGGCTGTGACGACCAGCCCAG	0.602																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(763-765)Gac>Aac		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						67	63	64					2																	241814608		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241814608G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.763G>A	2.37:g.241814608G>A	ENSP00000302620:p.Asp255Asn						p.D255N	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	7	1150	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	255					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.763G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296783	0.23650	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	3.79	2.61	0.31194	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.360637	0.30260	N	0.010038	T	0.78444	0.4284	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.68450	-0.5405	10	0.40728	T	0.16	-15.842	11.0699	0.47997	0.1204:0.0:0.8796:0.0	.	255	P21549	SPYA_HUMAN	N	255	ENSP00000302620:D255N	ENSP00000302620:D255N	D	+	1	0	AGXT	241463281	0.714000	0.27936	0.291000	0.24904	0.339000	0.28857	3.413000	0.52686	1.674000	0.50907	0.639000	0.83563	GAC		0.602	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		14	354	0	0	0	1	0	14	354					A	241814608	G	A	241814608	3	1	79	1	0	0	0	0	1	0	0	0	404	1058	37	1	789	1	AGXT	2	241814608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	241814608	1384765	3682	13999											
C2orf54	79919	broad.mit.edu	37	chr2	241829557	241829557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccagcagcctcgtgagCaggtagtcagtggaggtcct	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000388934.4	-	3	917	c.759G>A	c.(757-759)ctG>ctA	p.L253L	C2orf54_ENST00000307486.8_Silent_p.L104L|C2orf54_ENST00000402775.2_Silent_p.L85L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(310-312)ctG>ctA		chromosome 2 open reading frame 54							34	40	38					2																	241829557		2068	4195	6263	SO:0001819	synonymous_variant	79919							g.chr2:241829557C>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.759G>A	2.37:g.241829557C>T						C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000388934.4_Silent_p.L253L	p.L104L			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	410	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	253					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.312G>A	CCDS42839.1																																																																																				0.682	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		54	280	0	0	0	1	0	54	280					T	241829557	C	T	241829557	2	4	79	1	0	0	0	0	0	0	0	1	2182	697	25	2		2	C2orf54	2	241829557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14949	241829557	1369816	3683	14000											
SNED1	25992	broad.mit.edu	37	chr2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatgactgtgagtgccGcaacggaggcagatgcctgg	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	475	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGAGTGCCGCAACGGAGGC	0.637																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(1423-1425)cGc>cAc		sushi, nidogen and EGF-like domains 1							44	55	52					2																	241988103		2065	4204	6269	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241988103G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1424G>A	2.37:g.241988103G>A	ENSP00000308893:p.Arg475His					SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	p.R475H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	10	1424	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	475			EGF-like 6.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.1424G>A	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626007|2.626007	0.46840|0.46840	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	4.81|4.81	3.01|3.01	0.34805|0.34805	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.78801|0.78801	2.425|2.425	0.33775|0.33775	D|D	0.623493|0.623493	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.76984|0.76984	-0.2756|-0.2756	5|10	.|0.20046	.|T	.|0.44	.|.	10.5754|10.5754	0.45225|0.45225	0.16:0.0:0.84:0.0|0.16:0.0:0.84:0.0	.|.	.|475	.|Q8TER0	.|SNED1_HUMAN	T|H	133|475	.|ENSP00000384871:R475H;ENSP00000386007:R475H;ENSP00000308893:R475H;ENSP00000342992:R475H	.|ENSP00000308893:R475H	A|R	+|+	1|2	0|0	SNED1|SNED1	241636776|241636776	0.913000|0.913000	0.31002|0.31002	0.525000|0.525000	0.27900|0.27900	0.212000|0.212000	0.24457|0.24457	1.302000|1.302000	0.33459|0.33459	0.455000|0.455000	0.26910|0.26910	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		29	80	0	0	0	1	0	29	80					A	241988103	G	A	241988103	3	1	79	1	0	0	0	0	1	0	0	0	14895	1087	38	1	1462	1	SNED1	2	241988103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158546	241988103	1211270	3684	14001											
PASK	23178	broad.mit.edu	37	chr2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgatgtccttcaagcGcaggtatcccactgctgaca	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R1120C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCTTCAAGCGCAGGTATCCC	0.458																																						ENST00000405260.1																			2	Substitution - Missense(2)	p.R1120C(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3358-3360)Cgc>Tgc		PAS domain containing serine/threonine kinase							69	63	65					2																	242051830		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242051830G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3358C>T	2.37:g.242051830G>A	ENSP00000384016:p.Arg1120Cys					PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C	p.R1120C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	15	4056	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1120			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3358C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158454	0.57368	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236607	0.29730	N	0.011349	T	0.73776	0.3630	L	0.37697	1.125	0.47737	D	0.999505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.75121	-0.3429	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	1085;934;1127;1120	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1120;934;1120;1127;904	ENSP00000234040:R1120C;ENSP00000441374:R934C;ENSP00000384016:R1120C;ENSP00000351475:R1127C;ENSP00000443083:R904C	ENSP00000234040:R1120C	R	-	1	0	PASK	241700503	1.000000	0.71417	0.926000	0.36857	0.043000	0.13939	7.039000	0.76544	2.744000	0.94065	0.655000	0.94253	CGC		0.458	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		55	162	0	0	0	1	0	55	162					A	242051830	G	A	242051830	3	1	79	1	0	0	0	0	1	0	0	0	11514	1087	38	1	629	1	PASK	2	242051830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63727	242051830	1147543	3685	14002											
PASK	23178	broad.mit.edu	37	chr2	242062165	242062165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttgtttttttccttGtccacagcagtccacacgaa	5	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000405260.1	-	12	3752	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000403638.3_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000358649.4_Silent_p.D1018D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1018	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TTTTTTCCTTGTCCACAGCAG	0.602																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3052-3054)gaC>gaT		PAS domain containing serine/threonine kinase							87	94	91					2																	242062165		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242062165G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3054C>T	2.37:g.242062165G>A						PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000405260.1_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D	p.D1018D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3145	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1018			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.3054C>T	CCDS2545.1																																																																																				0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		50	596	0	0	0	1	0	50	596					A	242062165	G	A	242062165	2	1	79	1	0	0	0	0	0	0	0	1	11514	1368	48	2		2	PASK	2	242062165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10335	242062165	1137208	3686	14003											
PASK	23178	broad.mit.edu	37	chr2	242079416	242079416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagcttctggccaatcaGgtcctggctgctgtacccca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000405260.1	-	4	1182	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000403638.3_Silent_p.L162L|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	162	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAATCAGGTCCTGGCTG	0.587																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(484-486)Ctg>Ttg		PAS domain containing serine/threonine kinase							64	53	57					2																	242079416		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079416G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.484C>T	2.37:g.242079416G>A						PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000405260.1_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000539818.1_Intron	p.L162L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	575	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	162			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.484C>T	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		38	174	0	0	0	1	0	38	174					A	242079416	G	A	242079416	2	1	79	1	0	0	0	0	0	0	0	1	11514	991	35	2		2	PASK	2	242079416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17251	242079416	1119957	3687	14004											
PASK	23178	broad.mit.edu	37	chr2	242080137	242080137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatattctgggcagccagTgatgatagacaataggagct	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000405260.1	-	3	926	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000403638.3_Silent_p.S76S|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	76					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGCAGCCAGTGATGATAGAC	0.542																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(226-228)tcA>tcG		PAS domain containing serine/threonine kinase							65	66	65					2																	242080137		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242080137T>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.228A>G	2.37:g.242080137T>C						PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000405260.1_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000539818.1_Intron	p.S76S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	319	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	76					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.228A>G	CCDS2545.1																																																																																				0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		58	243	0	0	0	1	0	58	243					C	242080137	T	C	242080137	2	2	79	1	0	0	0	0	0	0	0	1	11514	1683	59	4		4	PASK	2	242080137	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721	242080137	1119236	3688	14005											
PPP1R7	5510	broad.mit.edu	37	chr2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgaagggagccaggagcCtggagacagtgtacctggag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	323					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AGCCAGGAGCCTGGAGACAGT	0.597																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(967-969)Ctg>Atg		protein phosphatase 1, regulatory subunit 7							121	114	116					2																	242122122		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242122122C>A	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.967C>A	2.37:g.242122122C>A	ENSP00000234038:p.Leu323Met					PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M	p.L323M	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	10	1441	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	323					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.967C>A	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410388|4.410388	0.83340|0.83340	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81394|0.81394	0.4813|0.4813	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.992;0.982;0.994|.	D|D	0.85414|0.85414	0.1139|0.1139	10|5	0.66056|.	D|.	0.02|.	-9.5125|-9.5125	11.7306|11.7306	0.51735|0.51735	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	264;280;323|.	C9J177;Q15435-2;Q15435|.	.;.;PP1R7_HUMAN|.	M|H	264;323;280;323|44	ENSP00000412092:L264M;ENSP00000385657:L323M;ENSP00000272983:L280M;ENSP00000234038:L323M|.	ENSP00000234038:L323M|.	L|P	+|+	1|2	2|0	PPP1R7|PPP1R7	241770795|241770795	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	4.465000|4.465000	0.60141|0.60141	2.417000|2.417000	0.82017|0.82017	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.597	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		17	413	1	0	8.34094e-07	1	8.61956e-07	17	413					A	242122122	C	A	242122122	3	1	79	1	0	0	0	0	1	0	0	0	12423	680	24	3	1005	3	PPP1R7	2	242122122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41985	242122122	1077251	3689	14006											
ANO7	50636	broad.mit.edu	37	chr2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcctctcgcatcgccaGcctcacggggtctgtagtga	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	546					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1636-1638)aGc>aAc		anoctamin 7							106	90	95					2																	242149899		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242149899G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1637G>A	2.37:g.242149899G>A	ENSP00000274979:p.Ser546Asn					ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	p.S546N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			15	1740	+			546					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1637G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325705	0.24080	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.65364	-0.15;-0.15	3.49	-0.713	0.11223	.	0.271180	0.33534	N	0.004817	T	0.45915	0.1366	L	0.37897	1.145	0.28974	N	0.889087	B	0.22080	0.064	B	0.29942	0.109	T	0.36383	-0.9750	10	0.16420	T	0.52	.	8.2936	0.31971	0.5136:0.0:0.4864:0.0	.	546	Q6IWH7	ANO7_HUMAN	N	546;545	ENSP00000274979:S546N;ENSP00000385418:S545N	ENSP00000274979:S546N	S	+	2	0	ANO7	241798572	0.520000	0.26250	0.053000	0.19242	0.273000	0.26683	0.728000	0.26013	-0.134000	0.11516	0.313000	0.20887	AGC		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		82	385	0	0	0	1	0	82	385					A	242149899	G	A	242149899	3	1	79	1	0	0	0	0	1	0	0	0	702	971	34	2	1767	2	ANO7	2	242149899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27777	242149899	1049474	3690	14007											
ANO7	50636	broad.mit.edu	37	chr2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagaagttccggcttcGctccaagaagaggaaggcgg	16	9	0	3	rs545708893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	675					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		3913	0.0		0.0	False		,,,				2504	0.001					ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2023-2025)cGc>cAc		anoctamin 7							62	70	68					2																	242155543		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242155543G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2024G>A	2.37:g.242155543G>A	ENSP00000274979:p.Arg675His					ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	p.R675H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			19	2127	+			675					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2024G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067185	0.20067	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.2	-1.18	0.09617	.	.	.	.	.	T	0.53238	0.1784	M	0.66506	2.035	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47522	-0.9111	9	0.44086	T	0.13	.	4.0495	0.09788	0.3427:0.343:0.3142:0.0	.	675	Q6IWH7	ANO7_HUMAN	H	675;674	ENSP00000274979:R675H;ENSP00000385418:R674H	ENSP00000274979:R675H	R	+	2	0	ANO7	241804216	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-1.133000	0.03232	-0.258000	0.09446	-0.363000	0.07495	CGC		0.577	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		89	397	0	0	0	1	0	89	397					A	242155543	G	A	242155543	3	1	79	1	0	0	0	0	1	0	0	0	702	1087	38	1	2170	1	ANO7	2	242155543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5644	242155543	1043830	3691	14008											
HDLBP	3069	broad.mit.edu	37	chr2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattactgccccctttctccCgataatcttgggatggtatt	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473																																						ENST00000391975.1																			1	Substitution - Missense(1)	p.G1069W(1)	lung(1)	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3205-3207)Ggg>Agg		high density lipoprotein binding protein							171	155	161					2																	242173318		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242173318C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3205G>A	2.37:g.242173318C>T	ENSP00000375836:p.Gly1069Arg					HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R|HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R	p.G1069R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	24	3432	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1069			KH 13.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3205G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	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	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		13	469	0	0	0	1	0	13	469					T	242173318	C	T	242173318	3	4	79	1	0	0	0	0	1	0	0	0	7055	652	23	1	621	1	HDLBP	2	242173318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	242173318	1026055	3692	14009											
HDLBP	3069	broad.mit.edu	37	chr2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagatgcaagctccagcagCtctcgcttggcctgctgcac	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	496	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCCAGCAGCTCTCGCTTGG	0.597																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1486-1488)gaG>gaT		high density lipoprotein binding protein							117	93	101					2																	242189280		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189280C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1488G>T	2.37:g.242189280C>A	ENSP00000375836:p.Glu496Asp					HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000476807.1_5'UTR	p.E496D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1715	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	496			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1488G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929068|3.929068	0.73327|0.73327	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.76|5.76	0.977|0.977	0.19733|0.19733	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28378	.|0.032;0.209	.|B;B	.|0.40477	.|0.33;0.248	T|T	0.45891|0.45891	-0.9230|-0.9230	5|10	.|0.56958	.|D	.|0.05	-44.6837|-44.6837	10.083|10.083	0.42401|0.42401	0.0:0.6771:0.0:0.3229|0.0:0.6771:0.0:0.3229	.|.	.|463;496	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	S|D	305|496;496;496;463	.|ENSP00000375836:E496D;ENSP00000375837:E496D;ENSP00000312042:E496D;ENSP00000399139:E463D	.|ENSP00000312042:E496D	A|E	-|-	1|3	0|2	HDLBP|HDLBP	241837953|241837953	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	2.634000|2.634000	0.46528|0.46528	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	GCT|GAG		0.597	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		113	309	1	0	4.04957e-52	1	5.03512e-52	113	309					A	242189280	C	A	242189280	3	1	79	1	0	0	0	0	1	0	0	0	7055	796	28	3	2386	3	HDLBP	2	242189280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15962	242189280	1010093	3693	14010											
HDLBP	3069	broad.mit.edu	37	chr2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgctcttcccaatgaggTgcctgtggaacttgtggtcg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	449	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCAATGAGGTGCCTGTGGAA	0.572																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1345-1347)cAc>cGc		high density lipoprotein binding protein							196	156	170					2																	242192398		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192398T>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1346A>G	2.37:g.242192398T>C	ENSP00000375836:p.His449Arg					HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R	p.H449R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1573	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	449			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1346A>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.885819|4.885819	0.91814|0.91814	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	5.49|5.49	5.49|5.49	0.81192|0.81192	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59211|0.59211	0.2177|0.2177	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.56177|0.56177	-0.8022|-0.8022	10|5	0.72032|.	D|.	0.01|.	-31.8082|-31.8082	14.4589|14.4589	0.67435|0.67435	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	416;449|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|A	449;449;449;416|327	ENSP00000375836:H449R;ENSP00000375837:H449R;ENSP00000312042:H449R;ENSP00000399139:H416R|.	ENSP00000312042:H449R|.	H|T	-|-	2|1	0|0	HDLBP|HDLBP	241841071|241841071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.247000|7.247000	0.78257|0.78257	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		128	350	0	0	0	1	0	128	350					C	242192398	T	C	242192398	3	2	79	1	0	0	0	0	1	0	0	0	7055	1696	59	4	2532	4	HDLBP	2	242192398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3118	242192398	1006975	3694	14011											
SEPT2	4735	broad.mit.edu	37	chr2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaaatctatcacttacCtgatgcagaatcagatgaag	6	9	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(640-642)cCt>cAt		septin 2							109	117	115					2																	242282453		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242282453C>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>A	2.37:g.242282453C>A	ENSP00000375834:p.Pro214His					SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H	p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	8	1169	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	214					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.641C>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261942	0.95368	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	0.51;0.51;0.51;0.51;0.51;-1.28;0.51;-1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.975;0.985	D	0.95128	0.8252	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	H	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214H;ENSP00000397195:P174H;ENSP00000353157:P214H;ENSP00000375832:P214H;ENSP00000385109:P224H;ENSP00000384525:P174H;ENSP00000385172:P214H;ENSP00000408296:P69H	ENSP00000353157:P214H	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		86	475	1	0	2.1089e-46	1	2.5903e-46	86	475					A	242282453	C	A	242282453	3	1	79	1	0	0	0	0	1	0	0	0	14114	681	24	3	667	3	SEPT2	2	242282453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90055	242282453	916920	3695	14012											
FARP2	9855	broad.mit.edu	37	chr2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcgggacctggtggGcatagagaacctcattgctc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	745					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GACCTGGTGGGCATAGAGAAC	0.498																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(2233-2235)gGc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							97	84	88					2																	242415374		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242415374G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2234G>A	2.37:g.242415374G>A	ENSP00000264042:p.Gly745Asp						p.G745D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	19	2404	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	745					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.2234G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025654	0.75390	.	.	ENSG00000006607	ENST00000264042	T	0.51574	0.7	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	745	O94887	FARP2_HUMAN	D	745	ENSP00000264042:G745D	ENSP00000264042:G745D	G	+	2	0	FARP2	242064047	1.000000	0.71417	0.629000	0.29254	0.404000	0.30871	9.081000	0.94049	2.485000	0.83878	0.563000	0.77884	GGC		0.498	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			33	202	0	0	0	1	0	33	202					A	242415374	G	A	242415374	3	1	79	1	0	0	0	0	1	0	0	0	5702	1203	42	2	2304	2	FARP2	2	242415374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132921	242415374	783999	3696	14013											
STK25	10494	broad.mit.edu	37	chr2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggaatcaggaacaggaCgcgcatggggtggaggtcag	18	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(667-669)Gtc>Atc		serine/threonine kinase 25							70	78	76					2																	242438508		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438508C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.667G>A	2.37:g.242438508C>T	ENSP00000325748:p.Val223Ile					STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I|STK25_ENST00000405585.1_Missense_Mutation_p.V146I	p.V223I	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	1016	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	223			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.667G>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987877	0.74589	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.29	5.29	0.74685	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	0.64427	0.2597	N	0.10629	0.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.979;0.998	D;D;D;D	0.69824	0.966;0.934;0.935;0.935	T	0.73487	-0.3967	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	149;146;223;129	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	I	223;223;223;146;129;146;129;129;129;127;129;129	ENSP00000325748:V223I;ENSP00000384162:V223I;ENSP00000385687:V223I;ENSP00000384444:V146I;ENSP00000385541:V146I;ENSP00000444886:V129I;ENSP00000446008:V129I;ENSP00000399212:V129I;ENSP00000417020:V127I;ENSP00000403607:V129I;ENSP00000395104:V129I	ENSP00000325748:V223I	V	-	1	0	STK25	242087181	1.000000	0.71417	0.624000	0.29186	0.046000	0.14306	7.583000	0.82559	2.637000	0.89404	0.655000	0.94253	GTC		0.612	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		82	270	0	0	0	1	0	82	270					T	242438508	C	T	242438508	3	4	79	1	0	0	0	0	1	0	0	0	15346	536	19	1	637	1	STK25	2	242438508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23134	242438508	760865	3697	14014											
STK25	10494	broad.mit.edu	37	chr2	242441007	242441007	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcctccaggtcgatgatCttgatggccaccacctcctt	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000405585.1_Intron|STK25_ENST00000543554.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(145-147)aaG>aaA		serine/threonine kinase 25							220	159	180					2																	242441007		2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242441007C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.147G>A	2.37:g.242441007C>T						STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405585.1_Intron	p.K49K	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	496	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	49			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.147G>A	CCDS2549.1																																																																																				0.567	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		79	333	0	0	0	1	0	79	333					T	242441007	C	T	242441007	2	4	79	1	0	0	0	0	0	0	0	1	15346	912	32	2		2	STK25	2	242441007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	242441007	758366	3698	14015											
THAP4	51078	broad.mit.edu	37	chr2	242572459	242572459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaggctcttcagctcGccgttcttcttctccacctg	8	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	371							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1111-1113)ggC>ggT		THAP domain containing 4							44	45	45					2																	242572459		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572459G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1113C>T	2.37:g.242572459G>A							p.G371G	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1544	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	371					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.1113C>T	CCDS2551.1																																																																																				0.617	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		40	164	0	0	0	1	0	40	164					A	242572459	G	A	242572459	2	1	79	1	0	0	0	0	0	0	0	1	15898	1074	38	1		1	THAP4	2	242572459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131452	242572459	626914	3699	14016											
THAP4	51078	broad.mit.edu	37	chr2	242572744	242572744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccaggcccttgtcGggtcccaggctgctcccact	12	17	1	0	rs575990048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	276							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17254	0.0		0.0	False		,,,				2504	0.001					ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(826-828)ccC>ccT		THAP domain containing 4							73	80	77					2																	242572744		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572744G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.828C>T	2.37:g.242572744G>A							p.P276P	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1259	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	276					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.828C>T	CCDS2551.1																																																																																				0.637	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		192	552	0	0	0	1	0	192	552					A	242572744	G	A	242572744	2	1	79	1	0	0	0	0	0	0	0	1	15898	1103	39	1		1	THAP4	2	242572744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	242572744	626629	3700	14017											
THAP4	51078	broad.mit.edu	37	chr2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccgggtgcggccatggCctccagcccccctcttcttc	9	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	96							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(286-288)gGc>gAc		THAP domain containing 4							86	90	89					2																	242573285		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573285C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.287G>A	2.37:g.242573285C>T	ENSP00000385006:p.Gly96Asp						p.G96D	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	718	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	96					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.287G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491997	0.26774	.	.	ENSG00000176946	ENST00000407315	D	0.95518	-3.73	4.93	4.02	0.46733	.	4.361770	0.00654	N	0.000576	D	0.90854	0.7127	N	0.19112	0.55	0.20926	N	0.999825	B	0.10296	0.003	B	0.08055	0.003	T	0.80037	-0.1550	10	0.27785	T	0.31	-16.158	5.5193	0.16923	0.0:0.6659:0.2012:0.1329	.	96	Q8WY91	THAP4_HUMAN	D	96	ENSP00000385006:G96D	ENSP00000385006:G96D	G	-	2	0	THAP4	242221958	0.964000	0.33143	0.122000	0.21767	0.989000	0.77384	1.921000	0.40035	1.142000	0.42291	0.655000	0.94253	GGC		0.647	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		237	595	0	0	0	1	0	237	595					T	242573285	C	T	242573285	3	4	79	1	0	0	0	0	1	0	0	0	15898	739	26	2	1474	2	THAP4	2	242573285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541	242573285	626088	3701	14018											
ING5	84289	broad.mit.edu	37	chr2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcgcctgcagaagatccaGaacgcctacagcaagtgcaa	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	69					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(205-207)caG>caT		inhibitor of growth family, member 5							130	128	129					2																	242648728		2203	4296	6499	SO:0001583	missense	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242648728G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.207G>T	2.37:g.242648728G>T	ENSP00000322142:p.Gln69His					ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	p.Q69H	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	233	+		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)	69					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.207G>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497018	0.85069	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.74	5.74	0.90152	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.968	D	0.87282	0.2293	9	0.72032	D	0.01	-2.5677	19.9111	0.97025	0.0:0.0:1.0:0.0	.	69;69	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	69	.	ENSP00000322142:Q69H	Q	+	3	2	ING5	242297401	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.745000	0.55119	2.722000	0.93159	0.591000	0.81541	CAG		0.577	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		228	595	1	0	9.60768e-89	1	1.23263e-88	228	595					T	242648728	G	T	242648728	3	4	79	1	0	0	0	0	1	0	0	0	7769	933	33	3	217	3	ING5	2	242648728	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75443	242648728	550645	3702	14019											
ING5	84289	broad.mit.edu	37	chr2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgaaagctccggagggCgagggttaaaaagcaagtct	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(376-378)Cga>Tga		inhibitor of growth family, member 5							119	135	130					2																	242650891		2203	4296	6499	SO:0001587	stop_gained	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650891C>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.376C>T	2.37:g.242650891C>T	ENSP00000322142:p.Arg126*					ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	p.R126*	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	402	+		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)	126					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Nonsense_Mutation	SNP	ENST00000313552.6	37	c.376C>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	ING5	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA		0.398	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		119	438	0	0	0	1	0	119	438					T	242650891	C	T	242650891	4	4	79	1	0	0	0	0	0	1	0	0	7769	760	27	1	390	1	ING5	2	242650891	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	242650891	548482	3703	14020											
D2HGDH	728294	broad.mit.edu	37	chr2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcctctccactgcccGcatgaaccgggtcctcagct	8	17	3	1	rs374397125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	152	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				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)			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)		TCCACTGCCCGCATGAACCGG	0.642																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(454-456)cGc>cAc		D-2-hydroxyglutarate dehydrogenase		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	81	88		455	3.9	1	2		88	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	152/522	242681954	1,12997	2203	4296	6499	SO:0001583	missense	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.chr2:242681954G>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.455G>A	2.37:g.242681954G>A	ENSP00000315351:p.Arg152His					D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H	p.R152H	NM_152783.3	NP_689996.4	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)	4	664	+		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)	152			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.455G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196304	0.38806	2.27E-4	0.0	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.01	5.06	3.89	0.44902	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.069723	0.64402	D	0.000014	D	0.94515	0.8234	M	0.75264	2.295	0.35735	D	0.818244	P	0.36144	0.539	B	0.32762	0.152	D	0.93942	0.7224	10	0.37606	T	0.19	.	12.0727	0.53626	0.0:0.0:0.1466:0.8534	.	152	Q8N465	D2HDH_HUMAN	H	152;152;18;152;36;22	ENSP00000442796:R152H;ENSP00000315351:R152H;ENSP00000384723:R18H;ENSP00000339536:R152H;ENSP00000412511:R36H;ENSP00000404596:R22H	ENSP00000315351:R152H	R	+	2	0	D2HGDH	242330627	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.589000	0.61006	0.776000	0.33473	-0.425000	0.05940	CGC		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		51	256	0	0	0	1	0	51	256					A	242681954	G	A	242681954	3	1	79	1	0	0	0	0	1	0	0	0	4224	1087	38	1	465	1	D2HGDH	2	242681954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31063	242681954	517419	3704	14021											
D2HGDH	728294	broad.mit.edu	37	chr2	242689694	242689694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcgccatctccacctgGccagcccggtgcaaggtact	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242689694G>A	ENST00000321264.4	+	7	1191	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	328					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)			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)		TCTCCACCTGGCCAGCCCGGT	0.632																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(982-984)Gcc>Acc		D-2-hydroxyglutarate dehydrogenase							67	65	66					2																	242689694		2203	4296	6499	SO:0001583	missense	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.chr2:242689694G>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.982G>A	2.37:g.242689694G>A	ENSP00000315351:p.Ala328Thr					D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T|D2HGDH_ENST00000486953.1_3'UTR	p.A328T	NM_152783.3	NP_689996.4	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)	7	1191	+		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)	328					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.982G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.019|6.019	0.371815|0.371815	0.11409|0.11409	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782|ENST00000432449	T;T|.	0.78481|.	-1.18;-1.18|.	4.63|4.63	-1.65|-1.65	0.08291|0.08291	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.870325|.	0.10087|.	N|.	0.717627|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01168|0.01168	-0.975|-0.975	0.33050|0.33050	D|D	0.532612|0.532612	B|.	0.02656|.	0.0|.	B|.	0.11329|.	0.006|.	T|T	0.35450|0.35450	-0.9788|-0.9788	10|5	0.16420|.	T|.	0.52|.	-1.4511|-1.4511	4.8409|4.8409	0.13489|0.13489	0.4608:0.0:0.1949:0.3443|0.4608:0.0:0.1949:0.3443	.|.	328|.	Q8N465|.	D2HDH_HUMAN|.	T|D	328;194|81	ENSP00000315351:A328T;ENSP00000384723:A194T|.	ENSP00000315351:A328T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242338367|242338367	0.000000|0.000000	0.05858|0.05858	0.810000|0.810000	0.32431|0.32431	0.501000|0.501000	0.33797|0.33797	-1.055000|-1.055000	0.03493|0.03493	-0.177000|-0.177000	0.10690|0.10690	0.491000|0.491000	0.48974|0.48974	GCC|GGC		0.632	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		9	428	0	0	0	1	0	9	428					A	242689694	G	A	242689694	3	1	79	1	0	0	0	0	1	0	0	0	4224	1203	42	2	1004	2	D2HGDH	2	242689694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7740	242689694	509679	3705	14022											
D2HGDH	728294	broad.mit.edu	37	chr2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcacgtggtgggctatgGccaccttggtgagcggcgcc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D|D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	433					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)			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)		GTGGGCTATGGCCACCTTGGT	0.701																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1297-1299)gGc>gAc		D-2-hydroxyglutarate dehydrogenase							41	37	38					2																	242695421		2202	4294	6496	SO:0001583	missense	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.chr2:242695421G>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.1298G>A	2.37:g.242695421G>A	ENSP00000315351:p.Gly433Asp					D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D|D2HGDH_ENST00000486953.1_3'UTR	p.G433D	NM_152783.3	NP_689996.4	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)	9	1507	+		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)	433					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1298G>A	CCDS33426.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.8|24.8|24.8	4.572822|4.572822|4.572822	0.86542|0.86542|0.86542	.|.|.	.|.|.	ENSG00000180902|ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211|ENST00000432449	.|D;D|.	.|0.86694|.	.|-2.16;-2.16|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	.|0.125811|.	.|0.53938|.	.|D|.	.|0.000052|.	D|D|.	0.90345|0.90345|.	0.6979|0.6979|.	H|H|H	0.97732|0.97732|0.97732	4.065|4.065|4.065	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|.	0.93703|0.93703|.	0.7017|0.7017|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	0.004|0.004|0.004	18.9757|18.9757|18.9757	0.92735|0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|433|.	.|Q8N465|.	.|D2HDH_HUMAN|.	T|D|X	232|433;299;53|186	.|ENSP00000315351:G433D;ENSP00000384723:G299D|.	.|ENSP00000315351:G433D|.	A|G|W	+|+|+	1|2|3	0|0|0	D2HGDH|D2HGDH|D2HGDH	242344094|242344094|242344094	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.464000|0.464000|0.464000	0.32679|0.32679|0.32679	8.597000|8.597000|8.597000	0.90847|0.90847|0.90847	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCC|GGC|TGG		0.701	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		72	333	0	0	0	1	0	72	333					A	242695421	G	A	242695421	3	1	79	1	0	0	0	0	1	0	0	0	4224	1203	42	2	1328	2	D2HGDH	2	242695421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5727	242695421	503952	3706	14023											
NEU4	129807	broad.mit.edu	37	chr2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgctcttcgagcgggagagGacgggcctgacctaccgcgt	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	17					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(49-51)agG>agT		sialidase 4							35	37	36					2																	242755732		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755732G>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.51G>T	2.37:g.242755732G>T	ENSP00000375830:p.Arg17Ser					NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S	p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)	3	762	+		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)	17					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.51G>T	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.375|0.375	-0.932103|-0.932103	0.02359|0.02359	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;D;T;T;T;T;T;D;D;T;T	.|0.83992	.|3.12;-1.79;3.12;3.12;3.12;3.12;3.12;-1.79;-1.79;3.12;3.12	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	.|Neuraminidase (2);	.|0.632273	.|0.15467	.|U	.|0.260836	T|T	0.60958|0.60958	0.2309|0.2309	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25169	.|0.073;0.119;0.069	.|B;B;B	.|0.20955	.|0.011;0.026;0.032	T|T	0.44862|0.44862	-0.9300|-0.9300	6|10	0.66056|0.13108	D|T	0.02|0.6	-18.7405|-18.7405	4.3633|4.3633	0.11213|0.11213	0.4027:0.398:0.1992:0.0|0.4027:0.398:0.1992:0.0	.|.	.|29;29;17	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	Y|S	41|17;17;17;17;29;17;30;17;29;17;58	.|ENSP00000385402:R17S;ENSP00000397167:R17S;ENSP00000384804:R17S;ENSP00000397860:R17S;ENSP00000385149:R29S;ENSP00000375830:R17S;ENSP00000320318:R30S;ENSP00000398571:R17S;ENSP00000406678:R29S;ENSP00000388707:R17S;ENSP00000396197:R58S	ENSP00000441629:D41Y|ENSP00000320318:R30S	D|R	+|+	1|3	0|2	NEU4|NEU4	242404405|242404405	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.152000|0.152000	0.21847|0.21847	-0.128000|-0.128000	0.10531|0.10531	0.100000|0.100000	0.17581|0.17581	0.443000|0.443000	0.29094|0.29094	GAC|AGG		0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		62	241	1	0	1.55545e-33	1	1.84439e-33	62	241					T	242755732	G	T	242755732	3	4	79	1	0	0	0	0	1	0	0	0	10386	1165	41	3	96	3	NEU4	2	242755732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60311	242755732	443641	3707	14024											
PDCD1	5133	broad.mit.edu	37	chr2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcggcagtcctggccgGgctggctgcggtcctcgggg	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219)		GTCCTGGCCGGGCTGGCTGCG	0.642																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(265-267)cCc>cTc		programmed cell death 1							41	42	42					2																	242794943		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794943G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.266C>T	2.37:g.242794943G>A	ENSP00000335062:p.Pro89Leu						p.P89L	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219)	2	335	-		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)	89			Ig-like V-type.		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.266C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439872	0.43326	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.17854	2.25	3.01	-0.0193	0.13960	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.180690	0.06298	N	0.700368	T	0.27900	0.0687	M	0.79805	2.47	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.50708	0.648;0.648	T	0.19484	-1.0304	10	0.66056	D	0.02	-2.1115	1.7204	0.02910	0.1259:0.2057:0.4576:0.2109	.	89;89	Q8IX89;Q15116	.;PDCD1_HUMAN	L	89	ENSP00000335062:P89L	ENSP00000335062:P89L	P	-	2	0	PDCD1	242443616	0.041000	0.20044	0.001000	0.08648	0.685000	0.39939	0.153000	0.16323	-0.013000	0.14199	0.457000	0.33378	CCC		0.642	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		37	218	0	0	0	1	0	37	218					A	242794943	G	A	242794943	3	1	79	1	0	0	0	0	1	0	0	0	11657	1232	43	2	616	2	PDCD1	2	242794943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39211	242794943	404430	3708	14025											
C2orf85	285093	broad.mit.edu	37	chr2	242814506	242814506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttcccggtggccattggaGaccccctcttccacggcccc	10	19	1	1	rs568255285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242814506G>T	ENST00000343216.3	+	2	827	c.799G>T	c.(799-801)Gac>Tac	p.D267Y		NM_173821.2	NP_776182.2																					GGCCATTGGAGACCCCCTCTT	0.662																																						ENST00000343216.3																			0											c.(799-801)Gac>Tac		CXXC finger protein 11							34	39	38					2																	242814506		1918	4127	6045	SO:0001583	missense	285093					integral to membrane		g.chr2:242814506G>T																												ENST00000343216.3:c.799G>T	2.37:g.242814506G>T	ENSP00000345374:p.Asp267Tyr						p.D267Y	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	827	+			267						Missense_Mutation	SNP	ENST00000343216.3	37	c.799G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712907	0.30413	.	.	ENSG00000188011	ENST00000343216	T	0.25579	1.79	2.79	0.926	0.19430	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.08827	-1.0703	9	0.56958	D	0.05	-1.4578	2.5208	0.04679	0.2641:0.0:0.5009:0.2351	.	267	Q14D33	CB085_HUMAN	Y	267	ENSP00000345374:D267Y	ENSP00000345374:D267Y	D	+	1	0	C2orf85	242463179	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.275000	0.02817	0.252000	0.21531	0.450000	0.29827	GAC		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			144	378	1	0	7.71122e-83	1	9.87059e-83	144	378					T	242814506	G	T	242814506	3	4	79	1	0	0	0	0	1	0	0	0	2207	942	33	3	805	3	C2orf85	2	242814506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19563	242814506	384867	3709	14026											
C2orf85	285093	broad.mit.edu	37	chr2	242815311	242815311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccgtgcctgccgtaGgccgcacgccgagccctacg	13	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242815311G>T	ENST00000343216.3	+	2	1632	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M		NM_173821.2	NP_776182.2																					GCCTGCCGTAGGCCGCACGCC	0.642																																						ENST00000343216.3																			0											c.(1603-1605)aGg>aTg		CXXC finger protein 11							75	86	82					2																	242815311		2068	4172	6240	SO:0001583	missense	285093					integral to membrane		g.chr2:242815311G>T																												ENST00000343216.3:c.1604G>T	2.37:g.242815311G>T	ENSP00000345374:p.Arg535Met						p.R535M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1632	+			535						Missense_Mutation	SNP	ENST00000343216.3	37	c.1604G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605771	0.46527	.	.	ENSG00000188011	ENST00000343216	T	0.27890	1.64	2.06	0.129	0.14739	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.56042	0.79	T	0.10359	-1.0633	9	0.72032	D	0.01	-7.2163	3.2603	0.06846	0.1753:0.2793:0.5455:0.0	.	535	Q14D33	CB085_HUMAN	M	535	ENSP00000345374:R535M	ENSP00000345374:R535M	R	+	2	0	C2orf85	242463984	0.000000	0.05858	0.012000	0.15200	0.347000	0.29111	0.031000	0.13710	0.028000	0.15324	0.196000	0.17591	AGG		0.642	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			240	690	1	0	1.26059e-112	1	1.62275e-112	240	690					T	242815311	G	T	242815311	3	4	79	1	0	0	0	0	1	0	0	0	2207	1000	35	3	1610	3	C2orf85	2	242815311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805	242815311	384062	3710	14027											
CHL1	10752	broad.mit.edu	37	chr3	407729	407729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtgactcacatttgaAacacagtttgaagttgtcct	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1_ENST00000397491.2_Missense_Mutation_p.K545R|CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA	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)			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)		TCACATTTGAAACACAGTTTG	0.358																																						ENST00000256509.2																			0				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						c.(1681-1683)aAa>aGa		cell adhesion molecule L1-like							120	115	117					3																	407729		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:407729A>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1682A>G	3.37:g.407729A>G	ENSP00000256509:p.Lys561Arg					CHL1_ENST00000397491.2_Missense_Mutation_p.K545R|CHL1-AS1_ENST00000417612.1_RNA	p.K561R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	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)	15	2324	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	545			Ig-like C2-type 6.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1682A>G	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	4.950	0.176486	0.09443	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12147	2.71;2.71	5.18	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267819	0.42821	N	0.000646	T	0.10035	0.0246	L	0.36672	1.1	0.29378	N	0.863517	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.11329	0.006;0.006;0.003	T	0.20571	-1.0271	10	0.25751	T	0.34	.	8.0794	0.30735	0.8376:0.0:0.1624:0.0	.	545;545;561	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	561;545	ENSP00000256509:K561R;ENSP00000380628:K545R	ENSP00000256509:K561R	K	+	2	0	CHL1	382729	0.796000	0.28864	0.018000	0.16275	0.433000	0.31745	1.362000	0.34148	0.383000	0.24910	0.460000	0.39030	AAA		0.358	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		73	288	0	0	0	1	0	73	288					G	407729	A	G	407729	3	3	79	1	0	0	0	0	1	0	0	0	3358	14	1	4	1732	4	CHL1	3	407729	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		407729	197614701	3711	14028											
CHL1	10752	broad.mit.edu	37	chr3	433368	433368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctagtacctgaacaGccaacttttctaaaggtcat	6	9	3	1	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	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)			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)		TACCTGAACAGCCAACTTTTC	0.299																																						ENST00000256509.2																			0				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						c.(2800-2802)caG>caA		cell adhesion molecule L1-like		G		1,4405	2.1+/-5.4	0,1,2202	85	86	85		2802	-0.6	1	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous	CHL1	NM_006614.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		934/1225	433368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433368G>A	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.2802G>A	3.37:g.433368G>A						CHL1_ENST00000397491.2_Silent_p.Q918Q	p.Q934Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	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)	23	3444	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	918			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.2802G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743787	0.15642	2.27E-4	0.0	ENSG00000134121	ENST00000445697	.	.	.	5.62	-0.555	0.11807	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54323	-0.8311	4	.	.	.	.	10.9911	0.47549	0.5608:0.0:0.4392:0.0	.	.	.	.	N	121	.	.	S	+	2	0	CHL1	408368	0.001000	0.12720	0.997000	0.53966	0.992000	0.81027	-1.298000	0.02756	0.033000	0.15463	0.650000	0.86243	AGC		0.299	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		59	328	0	0	0	1	0	59	328					A	433368	G	A	433368	2	1	79	1	0	0	0	0	0	0	0	1	3358	962	34	2		2	CHL1	3	433368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25639	433368	197589062	3712	14029											
CNTN6	27255	broad.mit.edu	37	chr3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttctttttagaatatttCtcttggaggatggcagcctc	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1372-1374)Ctc>Atc		contactin 6							55	56	56					3																	1394015		2203	4299	6502	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1394015C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1372C>A	3.37:g.1394015C>A	ENSP00000407822:p.Leu458Ile					CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I	p.L458I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	12	1999	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	458			Ig-like C2-type 5.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1372C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158095	0.01686	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.68	0.44	0.16572	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322819	0.22167	N	0.063700	T	0.21590	0.0520	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22626	-1.0211	10	0.02654	T	1	.	0.6072	0.00755	0.4032:0.2267:0.1564:0.2138	.	458	Q9UQ52	CNTN6_HUMAN	I	458;386;458	ENSP00000407822:L458I;ENSP00000442791:L386I;ENSP00000341882:L458I	ENSP00000341882:L458I	L	+	1	0	CNTN6	1369015	0.012000	0.17670	0.005000	0.12908	0.785000	0.44390	0.046000	0.14035	0.385000	0.24970	0.585000	0.79938	CTC		0.323	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		35	184	1	0	1.41851e-31	1	1.671e-31	35	184					A	1394015	C	A	1394015	3	1	79	1	0	0	0	0	1	0	0	0	3654	913	32	3	1414	3	CNTN6	3	1394015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	960647	1394015	196628415	3713	14030											
CNTN6	27255	broad.mit.edu	37	chr3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcattttgaaaggattggaGgagtaagttactgaaattgt	11	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*			Q9UQ52	CNTN6_HUMAN	contactin 6	556	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATTGGAGGAGTAAGTTA	0.348																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1666-1668)Gga>Tga		contactin 6							83	86	85					3																	1414156		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414156G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1666G>T	3.37:g.1414156G>T	ENSP00000407822:p.Gly556*					CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*	p.G556*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	13	2293	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	556			Ig-like C2-type 6.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.1666G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	44	11.096650	0.99515	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.9318	0.70919	0.0706:0.0:0.9294:0.0	.	.	.	.	X	556;484;556	.	ENSP00000341882:G556X	G	+	1	0	CNTN6	1389156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.376000	0.79658	2.732000	0.93576	0.650000	0.86243	GGA		0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		50	219	1	0	7.34454e-26	1	8.44522e-26	50	219					T	1414156	G	T	1414156	4	4	79	1	0	0	0	0	0	1	0	0	3654	1001	35	3	1712	3	CNTN6	3	1414156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20141	1414156	196608274	3714	14031											
CNTN6	27255	broad.mit.edu	37	chr3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctcaactggccccaaggGgaacttctctccagagtttt	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2422-2424)Gga>Tga		contactin 6							192	200	197					3																	1424997		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424997G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2422G>T	3.37:g.1424997G>T	ENSP00000407822:p.Gly808*					CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*	p.G808*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3049	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	808			Fibronectin type-III 3.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.2422G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	42	9.272061	0.99120	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.58	3.8	0.43715	.	0.229512	0.30547	N	0.009391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.3055	0.54900	0.1271:0.0:0.8729:0.0	.	.	.	.	X	808;736;808	.	ENSP00000341882:G808X	G	+	1	0	CNTN6	1399997	0.996000	0.38824	0.339000	0.25562	0.227000	0.25037	2.570000	0.45981	0.751000	0.32900	-0.469000	0.05056	GGA		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		202	956	1	0	9.68185e-62	1	1.21959e-61	202	956					T	1424997	G	T	1424997	4	4	79	1	0	0	0	0	0	1	0	0	3654	1233	43	3	2492	3	CNTN6	3	1424997	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10841	1424997	196597433	3715	14032											
CNTN4	152330	broad.mit.edu	37	chr3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcctatcaggataatcGccgctttgtttctcaagaga	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(505-507)cGc>cAc		contactin 4							139	128	131					3																	2908487		1830	4084	5914	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908487G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.506G>A	3.37:g.2908487G>A	ENSP00000380602:p.Arg169His					CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR	p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	890	+		Ovarian(110;0.156)	169			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.506G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	CNTN4	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC		0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			99	575	0	0	0	1	0	99	575					A	2908487	G	A	2908487	3	1	79	1	0	0	0	0	1	0	0	0	3652	1087	38	1	524	1	CNTN4	3	2908487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483490	2908487	195113943	3716	14033											
CNTN4	152330	broad.mit.edu	37	chr3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaaagccaatagcaaGgaaagccagaagacacaagt	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(805-807)aGg>aTg		contactin 4							90	83	85					3																	2928774		1851	4106	5957	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2928774G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.806G>T	3.37:g.2928774G>T	ENSP00000380602:p.Arg269Met					CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M	p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	9	1190	+		Ovarian(110;0.156)	269			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.806G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511723	0.64522	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060671	0.64402	D	0.000008	T	0.48750	0.1517	N	0.13198	0.31	0.80722	D	1	P;P	0.49862	0.785;0.929	P;P	0.44518	0.452;0.452	T	0.46373	-0.9196	10	0.51188	T	0.08	.	7.155	0.25632	0.1744:0.1352:0.6904:0.0	.	269;269	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	269;269;269;50	ENSP00000396010:R269M;ENSP00000380602:R269M;ENSP00000413642:R269M;ENSP00000351267:R50M	ENSP00000351267:R50M	R	+	2	0	CNTN4	2903774	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	4.415000	0.59809	0.569000	0.29329	0.650000	0.86243	AGG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			40	175	1	0	3.66854e-30	1	4.2996e-30	40	175					T	2928774	G	T	2928774	3	4	79	1	0	0	0	0	1	0	0	0	3652	1000	35	3	832	3	CNTN4	3	2928774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20287	2928774	195093656	3717	14034											
CNTN4	152330	broad.mit.edu	37	chr3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtcactgttggagagaGtattgttttaccgtgccagg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	514	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGGAGAGAGTATTGTTTTA	0.428																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1540-1542)aGt>aAt		contactin 4							192	162	172					3																	3067840		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3067840G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1541G>A	3.37:g.3067840G>A	ENSP00000380602:p.Ser514Asn					CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N	p.S514N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	14	1925	+		Ovarian(110;0.156)	514			Ig-like C2-type 6.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1541G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819485	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.64260	1.97	0.80722	D	1	P;D;D	0.76494	0.918;0.996;0.999	P;D;D	0.77557	0.835;0.977;0.99	T	0.03287	-1.1052	10	0.18276	T	0.48	.	18.2793	0.90092	0.0:0.0:1.0:0.0	.	514;514;514	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	N	514;514;514;295;186;186	ENSP00000396010:S514N;ENSP00000380602:S514N;ENSP00000413642:S514N;ENSP00000351267:S295N;ENSP00000380600:S186N;ENSP00000392077:S186N	ENSP00000351267:S295N	S	+	2	0	CNTN4	3042840	1.000000	0.71417	0.981000	0.43875	0.155000	0.21991	9.247000	0.95444	2.301000	0.77427	0.561000	0.74099	AGT		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			44	190	0	0	0	1	0	44	190					A	3067840	G	A	3067840	3	1	79	1	0	0	0	0	1	0	0	0	3652	1029	36	2	1587	2	CNTN4	3	3067840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139066	3067840	194954590	3718	14035											
CRBN	51185	broad.mit.edu	37	chr3	3215924	3215924	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaagtcctgccatgaaattCttccatatcagcacctaggt	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3215924C>A	ENST00000231948.4	-	3	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	66					negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	CCATGAAATTCTTCCATATCA	0.388																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(196-198)Gaa>Taa		cereblon							62	61	62					3																	3215924		2203	4300	6503	SO:0001587	stop_gained	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215924C>A	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.196G>T	3.37:g.3215924C>A	ENSP00000231948:p.Glu66*					CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	p.E66*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	218	-			66					B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Nonsense_Mutation	SNP	ENST00000231948.4	37	c.196G>T	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.419329|6.419329	0.97550|0.97550	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77933	.|-0.2402	.|3	0.44086|.	T|.	0.13|.	-28.1735|-28.1735	19.7106|19.7106	0.96095|0.96095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	66;65;3|61	.|.	ENSP00000231948:E66X|.	E|K	-|-	1|3	0|2	CRBN|CRBN	3190924|3190924	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.982000|0.982000	0.71751|0.71751	7.638000|7.638000	0.83328|0.83328	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.388	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		6	284	1	0	0.00116845	1	0.00118049	6	284					A	3215924	C	A	3215924	4	1	79	1	0	0	0	0	0	1	0	0	3860	922	32	3	1168	3	CRBN	3	3215924	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148084	3215924	194806506	3719	14036											
LRRN1	57633	broad.mit.edu	37	chr3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaatattcatcagcagaCtcaaaagtcatgcgtaaatg	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	605	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATCAGCAGACTCAAAAGTCA	0.478																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1813-1815)aCt>aTt		leucine rich repeat neuronal 1							170	165	166					3																	3888139		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888139C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1814C>T	3.37:g.3888139C>T	ENSP00000314901:p.Thr605Ile					SUMF1_ENST00000534863.1_Intron	p.T605I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2575	+			605			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1814C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881468	0.51801	.	.	ENSG00000175928	ENST00000319331	T	0.49432	0.78	5.5	5.5	0.81552	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152121	0.64402	D	0.000014	T	0.39733	0.1089	L	0.38838	1.175	0.58432	D	0.999998	P	0.37122	0.583	B	0.30646	0.118	T	0.24297	-1.0164	10	0.38643	T	0.18	.	19.7663	0.96342	0.0:1.0:0.0:0.0	.	605	Q6UXK5	LRRN1_HUMAN	I	605	ENSP00000314901:T605I	ENSP00000314901:T605I	T	+	2	0	LRRN1	3863139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.741000	0.93983	0.650000	0.86243	ACT		0.478	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		141	591	0	0	0	1	0	141	591					T	3888139	C	T	3888139	3	4	79	1	0	0	0	0	1	0	0	0	9072	565	20	2	1816	2	LRRN1	3	3888139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672215	3888139	194134291	3720	14037											
ITPR1	3708	broad.mit.edu	37	chr3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagggtcctggttttatAttcagccattctacaagctg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000443694.2	+	5	487	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	163	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTTTTATATTCAGCCATT	0.458																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(487-489)Att>Ctt		inositol 1,4,5-trisphosphate receptor, type 1							97	99	98					3																	4683897		1992	4172	6164	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4683897A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.487A>C	3.37:g.4683897A>C	ENSP00000401671:p.Ile163Leu					ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L	p.I163L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	7	837	+			163			MIR 1.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.487A>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.262091	0.59431	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	5.28	5.28	0.74379	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.88842	2.985	0.40237	D	0.977915	B;B;P;B;B	0.41159	0.066;0.016;0.74;0.008;0.011	B;B;D;B;B	0.69824	0.263;0.419;0.966;0.325;0.192	D	0.98681	1.0692	10	0.62326	D	0.03	.	15.2445	0.73497	1.0:0.0:0.0:0.0	.	163;163;163;163;163	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	L	163	ENSP00000306253:I163L;ENSP00000346595:I163L;ENSP00000405934:I163L;ENSP00000349597:I163L;ENSP00000397885:I163L;ENSP00000440564:I163L;ENSP00000401671:I163L	ENSP00000306253:I163L	I	+	1	0	ITPR1	4658897	1.000000	0.71417	0.818000	0.32626	0.387000	0.30353	7.423000	0.80229	1.997000	0.58415	0.533000	0.62120	ATT		0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		15	172	0	0	0	1	0	15	172					C	4683897	A	C	4683897	3	2	79	1	0	0	0	0	1	0	0	0	7950	449	16	4	505	4	ITPR1	3	4683897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	795758	4683897	193338533	3721	14038											
ITPR1	3708	broad.mit.edu	37	chr3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatattcagccattctacaaGctgcgatccattggagacag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000443694.2	+	5	504	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	168					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CATTCTACAAGCTGCGATCCA	0.468																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(502-504)aaG>aaT		inositol 1,4,5-trisphosphate receptor, type 1							91	93	92					3																	4683914		2007	4173	6180	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4683914G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.504G>T	3.37:g.4683914G>T	ENSP00000401671:p.Lys168Asn					ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000443694.2_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N	p.K168N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	7	854	+			168					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.504G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299581	0.60195	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.28	3.48	0.39840	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93854	3.465	0.37152	D	0.902198	D;P;D;P;P	0.89917	0.977;0.91;1.0;0.885;0.86	D;P;D;P;P	0.97110	0.993;0.795;1.0;0.638;0.505	D	0.99905	1.1178	10	0.87932	D	0	.	9.6978	0.40167	0.2638:0.0:0.7362:0.0	.	168;168;168;168;168	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	N	168	ENSP00000306253:K168N;ENSP00000346595:K168N;ENSP00000405934:K168N;ENSP00000349597:K168N;ENSP00000397885:K168N;ENSP00000440564:K168N;ENSP00000401671:K168N	ENSP00000306253:K168N	K	+	3	2	ITPR1	4658914	0.993000	0.37304	1.000000	0.80357	0.590000	0.36582	0.318000	0.19504	1.223000	0.43536	0.655000	0.94253	AAG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		16	159	1	0	7.07596e-05	1	7.20791e-05	16	159					T	4683914	G	T	4683914	3	4	79	1	0	0	0	0	1	0	0	0	7950	962	34	3	522	3	ITPR1	3	4683914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	4683914	193338516	3722	14039											
ITPR1	3708	broad.mit.edu	37	chr3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctctcagcccgcaatgCcgcacgcagggactctgttc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000443694.2	+	34	4733	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1593				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCCCGCAATGCCGCACGCAGG	0.527																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4777-4779)gCc>gTc		inositol 1,4,5-trisphosphate receptor, type 1							49	52	51					3																	4747971		2032	4183	6215	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4747971C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4733C>T	3.37:g.4747971C>T	ENSP00000401671:p.Ala1578Val					ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000443694.2_Missense_Mutation_p.A1578V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V	p.A1593V			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	37	5128	+			1593					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4778C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868283	0.51588	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.108661	0.64402	D	0.000005	T	0.57475	0.2056	L	0.40543	1.245	0.80722	D	1	B;B	0.25390	0.005;0.125	B;B	0.32624	0.003;0.149	T	0.51826	-0.8656	10	0.14252	T	0.57	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	1593;1584	Q14643;G5E9P1	ITPR1_HUMAN;.	V	1593;1578;1593;1584;39;1584;1569;1578	ENSP00000306253:A1578V;ENSP00000346595:A1593V;ENSP00000405934:A1584V;ENSP00000349597:A1584V;ENSP00000397885:A1569V;ENSP00000401671:A1578V	ENSP00000306253:A1578V	A	+	2	0	ITPR1	4722971	1.000000	0.71417	0.864000	0.33941	0.356000	0.29392	5.835000	0.69368	2.609000	0.88269	0.655000	0.94253	GCC		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		32	187	0	0	0	1	0	32	187					T	4747971	C	T	4747971	3	4	79	1	0	0	0	0	1	0	0	0	7950	739	26	2	4916	2	ITPR1	3	4747971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64057	4747971	193274459	3723	14040											
ITPR1	3708	broad.mit.edu	37	chr3	4836804	4836804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctggagcagcatttcGtttaacctggccgtcctgat	9	11	2	1	rs370852124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000443694.2	+	50	6819	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000423119.2_Silent_p.S2240S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAGCATTTCGTTTAACCTGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17011	0.0		0.0	False		,,,				2504	0.0					ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6817-6819)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 1		G	,,	1,4107		0,1,2053	127	124	125		6720,6819,6675	-5.7	0	3		125	0,8402		0,0,4201	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6254	AA,AG,GG		0.0,0.0243,0.0080	,,	2240/2711,2273/2744,2225/2696	4836804	1,12509	2054	4201	6255	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4836804G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6819G>A	3.37:g.4836804G>A						ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000443694.2_Silent_p.S2273S|ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000456211.2_Silent_p.S2225S	p.S2273S			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	52	7169	+			2288					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.6819G>A	CCDS54551.1																																																																																				0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		28	110	0	0	0	1	0	28	110					A	4836804	G	A	4836804	2	1	79	1	0	0	0	0	0	0	0	1	7950	1132	40	1		1	ITPR1	3	4836804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88833	4836804	193185626	3724	14041											
ITPR1	3708	broad.mit.edu	37	chr3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggctaccgagccatggttCtggatgttgagttcctctat	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000443694.2	+	52	7141	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2396					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCCATGGTTCTGGATGTTGA	0.453																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7141-7143)Ctg>Atg		inositol 1,4,5-trisphosphate receptor, type 1							149	142	144					3																	4847865		1951	4154	6105	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847865C>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7141C>A	3.37:g.4847865C>A	ENSP00000401671:p.Leu2381Met					ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000443694.2_Missense_Mutation_p.L2381M|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M	p.L2381M			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	54	7491	+			2396					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7141C>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394562	0.04899	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97430	-2.77;-2.77;-2.77;-2.77;-2.77;-4.38;-2.77	5.07	4.2	0.49525	Ion transport (1);	0.176545	0.46442	D	0.000284	D	0.89522	0.6739	N	0.01267	-0.92	0.33300	D	0.564656	B;B;B	0.24963	0.115;0.001;0.002	B;B;B	0.37989	0.262;0.006;0.004	D	0.87271	0.2286	10	0.29301	T	0.29	.	6.6622	0.23020	0.155:0.6874:0.0:0.1575	.	359;2396;2348	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	2396;2381;2381;2348;842;2348;2333;359;2381	ENSP00000306253:L2381M;ENSP00000346595:L2381M;ENSP00000405934:L2348M;ENSP00000349597:L2348M;ENSP00000397885:L2333M;ENSP00000440564:L359M;ENSP00000401671:L2381M	ENSP00000306253:L2381M	L	+	1	2	ITPR1	4822865	0.445000	0.25657	0.981000	0.43875	0.971000	0.66376	0.973000	0.29422	1.273000	0.44346	-0.218000	0.12543	CTG		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		61	212	1	0	1.19403e-26	1	1.3775e-26	61	212					A	4847865	C	A	4847865	3	1	79	1	0	0	0	0	1	0	0	0	7950	912	32	3	7396	3	ITPR1	3	4847865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11061	4847865	193174565	3725	14042											
ITPR1	3708	broad.mit.edu	37	chr3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagtgtacagagaagagaCtttgcttaatgtcattaaaa	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000443694.2	+	53	7256	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2434					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGAGAAGAGACTTTGCTTAAT	0.388																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7255-7257)aCt>aTt		inositol 1,4,5-trisphosphate receptor, type 1							98	91	93					3																	4852977		1901	4135	6036	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4852977C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7256C>T	3.37:g.4852977C>T	ENSP00000401671:p.Thr2419Ile					ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000443694.2_Missense_Mutation_p.T2419I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I	p.T2419I			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	55	7606	+			2434					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7256C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003787	0.93287	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.38	5.38	0.77491	Ion transport (1);	0.099034	0.64402	D	0.000001	D	0.99165	0.9711	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99601	1.0978	10	0.51188	T	0.08	.	19.12	0.93358	0.0:1.0:0.0:0.0	.	397;2434;2386	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2434;2419;2419;2386;880;2386;2371;397;2419	ENSP00000306253:T2419I;ENSP00000346595:T2419I;ENSP00000405934:T2386I;ENSP00000349597:T2386I;ENSP00000397885:T2371I;ENSP00000440564:T397I;ENSP00000401671:T2419I	ENSP00000306253:T2419I	T	+	2	0	ITPR1	4827977	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.724000	0.84798	2.509000	0.84616	0.563000	0.77884	ACT		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		30	136	0	0	0	1	0	30	136					T	4852977	C	T	4852977	3	4	79	1	0	0	0	0	1	0	0	0	7950	565	20	2	7515	2	ITPR1	3	4852977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5112	4852977	193169453	3726	14043											
ITPR1	3708	broad.mit.edu	37	chr3	4856239	4856239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgtactcaggaagccgtCcaaagaggtaaattaatccc	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4856239C>T	ENST00000443694.2	+	55	7649	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2565					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGGAAGCCGTCCAAAGAGGTA	0.567																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7648-7650)tCc>tTc		inositol 1,4,5-trisphosphate receptor, type 1							49	51	50					3																	4856239		1974	4134	6108	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856239C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7649C>T	3.37:g.4856239C>T	ENSP00000401671:p.Ser2550Phe					AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S2550F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F	p.S2550F			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	57	7999	+			2565					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7649C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921796	0.92319	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97831	-2.97;-2.98;-2.97;-2.97;-2.97;-4.56;-2.97	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.996;1.0;0.968	D	0.99858	1.1079	10	0.87932	D	0	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	528;2565;2517	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	F	2565;2550;2550;2517;1011;2517;2502;528;2550	ENSP00000306253:S2550F;ENSP00000346595:S2550F;ENSP00000405934:S2517F;ENSP00000349597:S2517F;ENSP00000397885:S2502F;ENSP00000440564:S528F;ENSP00000401671:S2550F	ENSP00000306253:S2550F	S	+	2	0	ITPR1	4831239	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	TCC		0.567	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		6	229	0	0	0	1	0	6	229					T	4856239	C	T	4856239	3	4	79	1	0	0	0	0	1	0	0	0	7950	855	30	2	7916	2	ITPR1	3	4856239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3262	4856239	193166191	3727	14044											
BHLHE40	8553	broad.mit.edu	37	chr3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctttaaacttagaaaCcaaagactaaactctctagg	4	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	410					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(1228-1230)aCc>aTc		basic helix-loop-helix family, member e40							79	90	87					3																	5025367		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025367C>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1229C>T	3.37:g.5025367C>T	ENSP00000256495:p.Thr410Ile						p.T410I	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1832	+			410					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.1229C>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800971	0.90538	.	.	ENSG00000134107	ENST00000256495	T	0.49432	0.78	5.51	5.51	0.81932	.	0.097328	0.64402	D	0.000001	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.48840	0.592	T	0.61926	-0.6962	10	0.72032	D	0.01	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	410	O14503	BHE40_HUMAN	I	410	ENSP00000256495:T410I	ENSP00000256495:T410I	T	+	2	0	BHLHE40	5000367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.589000	0.87451	0.655000	0.94253	ACC		0.468	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		107	498	0	0	0	1	0	107	498					T	5025367	C	T	5025367	3	4	79	1	0	0	0	0	1	0	0	0	1425	507	18	2	1247	2	BHLHE40	3	5025367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169128	5025367	192997063	3728	14045											
EDEM1	9695	broad.mit.edu	37	chr3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgtctttctagtgcaatCgtgtacctgatgagaggagg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	631					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTAGTGCAATCGTGTACCTGA	0.443																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1891-1893)Cgt>Tgt		ER degradation enhancer, mannosidase alpha-like 1							190	157	168					3																	5257520		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5257520C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1891C>T	3.37:g.5257520C>T	ENSP00000256497:p.Arg631Cys						p.R631C	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	12	2024	+			631					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1891C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805026	0.70682	.	.	ENSG00000134109	ENST00000256497	D	0.83755	-1.76	5.25	5.25	0.73442	.	0.097082	0.64402	D	0.000002	T	0.80649	0.4663	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.83158	-0.0100	10	0.66056	D	0.02	-13.5861	12.0944	0.53747	0.2923:0.7077:0.0:0.0	.	631	Q92611	EDEM1_HUMAN	C	631	ENSP00000256497:R631C	ENSP00000256497:R631C	R	+	1	0	EDEM1	5232520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.814000	0.48010	2.449000	0.82847	0.655000	0.94253	CGT		0.443	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		66	298	0	0	0	1	0	66	298					T	5257520	C	T	5257520	3	4	79	1	0	0	0	0	1	0	0	0	4927	884	31	1	1937	1	EDEM1	3	5257520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232153	5257520	192764910	3729	14046											
GRM7	2917	broad.mit.edu	37	chr3	6903264	6903264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgccaagggtcccagCggagtgccctgcggcgacat	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000357716.4	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000486284.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGGGTCCCAGCGGAGTGCCCT	0.662																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(187-189)agC>agT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						21	22	21					3																	6903264		2201	4298	6499	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903264C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.189C>T	3.37:g.6903264C>T						GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000357716.4_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S	p.S63S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	463	+			63					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.189C>T	CCDS43042.1																																																																																				0.662	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		12	78	0	0	0	1	0	12	78					T	6903264	C	T	6903264	2	4	79	1	0	0	0	0	0	0	0	1	6832	767	27	1		1	GRM7	3	6903264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1645744	6903264	191119166	3730	14047											
GRM7	2917	broad.mit.edu	37	chr3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaagcgatgctctacGccctggaccagatcaacagt	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000357716.4	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000486284.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	85					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GATGCTCTACGCCCTGGACCA	0.632																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(253-255)Gcc>Acc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						40	35	37					3																	6903328		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903328G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.253G>A	3.37:g.6903328G>A	ENSP00000350348:p.Ala85Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000357716.4_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T	p.A85T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	527	+			85					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.253G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740907	0.89573	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95487	0.8534	L	0.56340	1.77	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.85	D;D;B	0.80764	0.99;0.994;0.343	D	0.94407	0.7628	10	0.33141	T	0.24	.	17.462	0.87622	0.0:0.0:1.0:0.0	.	85;85;85	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	85	ENSP00000350348:A85T;ENSP00000417536:A85T;ENSP00000373987:A85T;ENSP00000385664:A85T;ENSP00000384585:A85T	ENSP00000350348:A85T	A	+	1	0	GRM7	6878328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.649000	0.98487	2.448000	0.82819	0.563000	0.77884	GCC		0.632	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		17	113	0	0	0	1	0	17	113					A	6903328	G	A	6903328	3	1	79	1	0	0	0	0	1	0	0	0	6832	1087	38	1	255	1	GRM7	3	6903328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	6903328	191119102	3731	14048											
GRM7	2917	broad.mit.edu	37	chr3	6903438	6903438	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgaacagtcgcttacTttcgtccaggcgctcatcca	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000357716.4	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000486284.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	121					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGTCGCTTACTTTCGTCCAGG	0.582																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(361-363)acT>acG		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						70	66	68					3																	6903438		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903438T>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.363T>G	3.37:g.6903438T>G						GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T|GRM7_ENST00000357716.4_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T	p.T121T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	637	+			121					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.363T>G	CCDS43042.1																																																																																				0.582	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		62	238	0	0	0	1	0	62	238					G	6903438	T	G	6903438	2	3	79	1	0	0	0	0	0	0	0	1	6832	1596	56	4		4	GRM7	3	6903438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110	6903438	191118992	3732	14049											
GRM7	2917	broad.mit.edu	37	chr3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacacgcccattgtccggGcatctgggcgggaactcagc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000357716.4	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	623					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CATTGTCCGGGCATCTGGGCG	0.502																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1867-1869)Gca>Tca		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						121	125	124					3																	7620460		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620460G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1867G>T	3.37:g.7620460G>T	ENSP00000350348:p.Ala623Ser					GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000357716.4_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR	p.A623S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2141	+			623					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1867G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076362	0.76415	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.99;0.999;0.992;1.0	D;D;D;D;D	0.97110	0.992;0.98;0.996;0.989;1.0	D	0.93418	0.6774	10	0.46703	T	0.11	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	623;623;378;623;623	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	S	623	ENSP00000350348:A623S;ENSP00000417536:A623S;ENSP00000373987:A623S;ENSP00000385664:A623S;ENSP00000384585:A623S	ENSP00000350348:A623S	A	+	1	0	GRM7	7595460	1.000000	0.71417	0.988000	0.46212	0.462000	0.32619	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA		0.502	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		66	673	1	0	9.39563e-20	1	1.04965e-19	66	673					T	7620460	G	T	7620460	3	4	79	1	0	0	0	0	1	0	0	0	6832	1203	42	3	1897	3	GRM7	3	7620460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717022	7620460	190401970	3733	14050											
GRM7	2917	broad.mit.edu	37	chr3	7620618	7620618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttatgcagccctcttgacGaaaacaaatcggatttatcg	8	9	1	1	rs267599934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000357716.4	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCCTCTTGACGAAAACAAATC	0.458																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2023-2025)acG>acA		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	100	90	93		2025,2025	-12.3	0.7	3		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	675/916,675/923	7620618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620618G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2025G>A	3.37:g.7620618G>A						GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000357716.4_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR	p.T675T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2299	+			675					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2025G>A	CCDS43042.1																																																																																				0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		36	314	0	0	0	1	0	36	314					A	7620618	G	A	7620618	2	1	79	1	0	0	0	0	0	0	0	1	6832	1045	37	1		1	GRM7	3	7620618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	7620618	190401812	3734	14051											
GRM7	2917	broad.mit.edu	37	chr3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaagaaatcagtaacaGctcccagactcataagccca	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000357716.4	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	693					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATCAGTAACAGCTCCCAGACT	0.438																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2077-2079)Gct>Act		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						114	99	104					3																	7620670		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620670G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2077G>A	3.37:g.7620670G>A	ENSP00000350348:p.Ala693Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000357716.4_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR	p.A693T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2351	+			693					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2077G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054986	0.36277	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.43152	1.355	0.51233	D	0.999911	B;P;P;P;P	0.43938	0.151;0.59;0.822;0.643;0.731	B;B;P;P;B	0.53360	0.21;0.282;0.724;0.459;0.438	D	0.89714	0.3914	10	0.48119	T	0.1	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	693;693;448;693;693	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	693	ENSP00000350348:A693T;ENSP00000417536:A693T;ENSP00000373987:A693T;ENSP00000385664:A693T;ENSP00000384585:A693T	ENSP00000350348:A693T	A	+	1	0	GRM7	7595670	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.396000	0.73234	2.941000	0.99782	0.655000	0.94253	GCT		0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		47	203	0	0	0	1	0	47	203					A	7620670	G	A	7620670	3	1	79	1	0	0	0	0	1	0	0	0	6832	971	34	2	2107	2	GRM7	3	7620670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	7620670	190401760	3735	14052											
GRM7	2917	broad.mit.edu	37	chr3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtactgtgtatgccaTcaagactcggggtgtacccg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000357716.4	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	775					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GTGTATGCCATCAAGACTCGG	0.433																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2323-2325)aTc>aCc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						105	99	101					3																	7620917		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620917T>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2324T>C	3.37:g.7620917T>C	ENSP00000350348:p.Ile775Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000357716.4_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR	p.I775T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2598	+			775					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2324T>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847396	0.71603	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P	0.69078	0.621;0.989;0.997;0.968;0.947	P;D;D;D;P	0.80764	0.593;0.985;0.994;0.969;0.747	D	0.94088	0.7350	10	0.87932	D	0	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	775;775;530;775;775	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	775	ENSP00000350348:I775T;ENSP00000417536:I775T;ENSP00000373987:I775T;ENSP00000385664:I775T;ENSP00000384585:I775T	ENSP00000350348:I775T	I	+	2	0	GRM7	7595917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		78	287	0	0	0	1	0	78	287					C	7620917	T	C	7620917	3	2	79	1	0	0	0	0	1	0	0	0	6832	1435	50	4	2354	4	GRM7	3	7620917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247	7620917	190401513	3736	14053											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000454244.1_Silent_p.S118S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(571-573)agC>agT		LIM and cysteine-rich domains 1							93	100	98					3																	8590439		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590439C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.573C>T	3.37:g.8590439C>T						LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S	p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	805	+			191			PET.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.573C>T	CCDS33688.1																																																																																				0.587	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		133	591	0	0	0	1	0	133	591					T	8590439	C	T	8590439	2	4	79	1	0	0	0	0	0	0	0	1	8877	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969522	8590439	189431991	3737	14054											
C3orf32	51066	broad.mit.edu	37	chr3	8672596	8672596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggaggcgcctctttgCggcccatccacagagtggtc	15	13	1	1	rs367672915	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8672596C>T	ENST00000317371.4	-	13	1579	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SSUH2_ENST00000341795.3_Silent_p.P118P|SSUH2_ENST00000544814.1_Silent_p.P140P|SSUH2_ENST00000415132.1_Silent_p.P118P			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	118						cytoplasm (GO:0005737)											CGCCTCTTTGCGGCCCATCCA	0.532													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18439	0.0		0.001	False		,,,				2504	0.0					ENST00000317371.4																			0											c.(352-354)ccG>ccA		ssu-2 homolog (C. elegans)		C		2,4404	4.2+/-10.8	0,2,2201	72	69	70		354	-7.3	0.1	3		70	0,8600		0,0,4300	no	coding-synonymous	C3orf32	NM_015931.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		118/354	8672596	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51066							g.chr3:8672596C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.354G>A	3.37:g.8672596C>T						SSUH2_ENST00000341795.3_Silent_p.P118P|SSUH2_ENST00000544814.1_Silent_p.P140P|SSUH2_ENST00000415132.1_Silent_p.P118P	p.P118P							13	1579	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Silent	SNP	ENST00000317371.4	37	c.354G>A	CCDS2568.1																																																																																				0.532	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		39	234	0	0	0	1	0	39	234					T	8672596	C	T	8672596	2	4	79	1	0	0	0	0	0	0	0	1	2229	755	27	1		1	C3orf32	3	8672596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82157	8672596	189349834	3738	14055											
OXTR	5021	broad.mit.edu	37	chr3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagatccaggggttgcagcaGctgttgaggctggccaggag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	322					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGTTGCAGCAGCTGTTGAGGC	0.592																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(964-966)agC>agA		oxytocin receptor	Carbetocin(DB01282)						63	57	59					3																	8794867		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794867G>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.966C>A	3.37:g.8794867G>T	ENSP00000324270:p.Ser322Arg					CAV3_ENST00000472766.1_Intron	p.S322R	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1590	-			322					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.966C>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168596	0.94768	.	.	ENSG00000180914	ENST00000316793	T	0.79653	-1.29	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.078859	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95265	0.8372	10	0.87932	D	0	-42.436	17.3169	0.87227	0.0:0.0:1.0:0.0	.	322	P30559	OXYR_HUMAN	R	322	ENSP00000324270:S322R	ENSP00000324270:S322R	S	-	3	2	OXTR	8769867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.655000	0.90218	0.655000	0.94253	AGC		0.592	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			21	326	1	0	2.32416e-17	1	2.56562e-17	21	326					T	8794867	G	T	8794867	3	4	79	1	0	0	0	0	1	0	0	0	11380	962	34	3	207	3	OXTR	3	8794867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122271	8794867	189227563	3739	14056											
SRGAP3	9901	broad.mit.edu	37	chr3	9032472	9032472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcgggctgtgtgtgtcGcccccgcttcggcgtctggg	19	13	1	0	rs537681085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGTGTGTGTCGCCCCCGCTTC	0.701			T	RAF1	pilocytic astrocytoma								G|||	4	0.000798722	0.003	0.0	5008	,	,		14100	0.0		0.0	False		,,,				2504	0.0					ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2608-2610)ggC>ggT		SLIT-ROBO Rho GTPase activating protein 3							10	13	12					3																	9032472		2183	4286	6469	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9032472G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2610C>T	3.37:g.9032472G>A						SRGAP3_ENST00000360413.3_Silent_p.G846G	p.G870G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	21	3037	-			870					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2610C>T	CCDS2572.1																																																																																				0.701	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			15	85	0	0	0	1	0	15	85					A	9032472	G	A	9032472	2	1	79	1	0	0	0	0	0	0	0	1	15199	1074	38	1		1	SRGAP3	3	9032472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237605	9032472	188989958	3740	14057											
SRGAP3	9901	broad.mit.edu	37	chr3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtccctctagctcccGggggctggggaagatggctt	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	698					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTAGCTCCCGGGGGCTGGGG	0.473			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2092-2094)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 3							80	68	72					3																	9055047		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055047G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2092C>T	3.37:g.9055047G>A	ENSP00000373347:p.Arg698Trp					SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	p.R698W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2519	-			698					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2092C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002577	0.74932	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;2.15	5.7	3.73	0.42828	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.68353	0.942;0.957	T	0.23154	-1.0196	10	0.72032	D	0.01	.	13.3197	0.60426	0.0:0.0:0.6146:0.3854	.	674;698	O43295-2;O43295	.;SRGP2_HUMAN	W	698;674	ENSP00000373347:R698W;ENSP00000353587:R674W	ENSP00000353587:R674W	R	-	1	2	SRGAP3	9030047	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.825000	0.48096	1.384000	0.46424	0.655000	0.94253	CGG		0.473	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			55	251	0	0	0	1	0	55	251					A	9055047	G	A	9055047	3	1	79	1	0	0	0	0	1	0	0	0	15199	1115	39	1	1231	1	SRGAP3	3	9055047	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22575	9055047	188967383	3741	14058											
SRGAP3	9901	broad.mit.edu	37	chr3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatcagatcagagacatcaTggatgtagtatttgcttata	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	260	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGACATCATGGATGTAGTA	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(778-780)cAt>cGt		SLIT-ROBO Rho GTPase activating protein 3							197	171	180					3																	9101937		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9101937T>C	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.779A>G	3.37:g.9101937T>C	ENSP00000373347:p.His260Arg					SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1206	-			260					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.779A>G	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296143	0.81025	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82323	2.585	0.80722	D	1	D;B;D;D	0.59357	0.985;0.232;0.978;0.963	P;B;P;B	0.50659	0.541;0.135;0.647;0.444	T	0.12243	-1.0555	10	0.42905	T	0.14	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	260;129;260;260	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	R	260;260;140	ENSP00000373347:H260R;ENSP00000353587:H260R	ENSP00000353587:H260R	H	-	2	0	SRGAP3	9076937	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	7.810000	0.86072	1.992000	0.58205	0.377000	0.23210	CAT		0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			22	481	0	0	0	1	0	22	481					C	9101937	T	C	9101937	3	2	79	1	0	0	0	0	1	0	0	0	15199	1464	51	4	2623	4	SRGAP3	3	9101937	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46890	9101937	188920493	3742	14059											
SETD5	55209	broad.mit.edu	37	chr3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcaatcacaagaagttCcagaaaaagtaactgtatcc	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000406341.1	+	11	1598	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000402466.1_Missense_Mutation_p.P372S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	470										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)		ACAAGAAGTTCCAGAAAAAGT	0.468																																						ENST00000402466.1																			0				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						c.(1114-1116)Cca>Tca		SET domain containing 5							56	58	57					3																	9486952		1936	4159	6095	SO:0001583	missense	55209							g.chr3:9486952C>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.1408C>T	3.37:g.9486952C>T	ENSP00000383939:p.Pro470Ser					SETD5_ENST00000407969.1_Missense_Mutation_p.P489S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000406341.1_Missense_Mutation_p.P470S	p.P372S			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	13	1882	+	Medulloblastoma(99;0.227)		470			SET.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1114C>T	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184905|3.184905	0.57909|0.57909	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.92647|.	-2.76;-3.08;-2.76;-2.75;-3.08|.	5.63|5.63	4.74|4.74	0.60224|0.60224	.|.	0.113194|.	0.64402|.	D|.	0.000010|.	T|T	0.70631|0.70631	0.3246|0.3246	L|L	0.59436|0.59436	1.845|1.845	0.41185|0.41185	D|D	0.986264|0.986264	B;B;B;B;B|.	0.23377|.	0.009;0.003;0.005;0.084;0.0|.	B;B;B;B;B|.	0.23419|.	0.046;0.004;0.01;0.031;0.001|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.66056|.	D|.	0.02|.	-2.1099|-2.1099	16.7691|16.7691	0.85532|0.85532	0.0:0.8709:0.129:0.0|0.0:0.8709:0.129:0.0	.|.	139;372;372;470;489|.	B3KXG4;B3KRD6;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;.;SETD5_HUMAN;.|.	S|F	470;372;470;489;372|137	ENSP00000385852:P470S;ENSP00000384429:P372S;ENSP00000383939:P470S;ENSP00000384114:P489S;ENSP00000302028:P372S|.	ENSP00000302028:P372S|.	P|S	+|+	1|2	0|0	SETD5|SETD5	9461952|9461952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.249000|1.249000	0.32839|0.32839	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		22	58	0	0	0	1	0	22	58					T	9486952	C	T	9486952	3	4	79	1	0	0	0	0	1	0	0	0	14184	855	30	2	1446	2	SETD5	3	9486952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385015	9486952	188535478	3743	14060											
SETD5	55209	broad.mit.edu	37	chr3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacatctcttactactgCtagtcgctgcaacactcctc	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000406341.1	+	17	2883	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898										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)		CTTACTACTGCTAGTCGCTGC	0.468																																						ENST00000402466.1																			0				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						c.(2398-2400)gCt>gTt		SET domain containing 5							137	133	135					3																	9506325		1985	4171	6156	SO:0001583	missense	55209							g.chr3:9506325C>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.2693C>T	3.37:g.9506325C>T	ENSP00000383939:p.Ala898Val					SETD5_ENST00000407969.1_Missense_Mutation_p.A917V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000406341.1_Missense_Mutation_p.A898V	p.A800V			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	19	3167	+	Medulloblastoma(99;0.227)		898					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2399C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362848	0.82353	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93133	-2.85;-3.17;-2.85;-2.84;-3.17	5.05	5.05	0.67936	.	0.253628	0.38326	N	0.001729	D	0.89853	0.6835	N	0.19112	0.55	0.46954	D	0.999267	P;P;B;P	0.46952	0.887;0.767;0.427;0.884	B;B;B;B	0.43889	0.435;0.273;0.1;0.414	D	0.91383	0.5129	10	0.66056	D	0.02	-16.0861	19.2942	0.94115	0.0:1.0:0.0:0.0	.	567;800;898;917	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	V	898;800;898;917;800	ENSP00000385852:A898V;ENSP00000384429:A800V;ENSP00000383939:A898V;ENSP00000384114:A917V;ENSP00000302028:A800V	ENSP00000302028:A800V	A	+	2	0	SETD5	9481325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.155000	0.71833	2.724000	0.93272	0.655000	0.94253	GCT		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		100	498	0	0	0	1	0	100	498					T	9506325	C	T	9506325	3	4	79	1	0	0	0	0	1	0	0	0	14184	797	28	2	2755	2	SETD5	3	9506325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19373	9506325	188516105	3744	14061											
SETD5	55209	broad.mit.edu	37	chr3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagctaaggaaaattctgCtggtgggggaggtgactctg	16	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000406341.1	+	19	3438	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1083										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)		GAAAATTCTGCTGGTGGGGGA	0.488																																						ENST00000402466.1																			0				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						c.(2953-2955)gCt>gAt		SET domain containing 5							53	54	53					3																	9514972		1984	4155	6139	SO:0001583	missense	55209							g.chr3:9514972C>A	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.3248C>A	3.37:g.9514972C>A	ENSP00000383939:p.Ala1083Asp					SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000406341.1_Missense_Mutation_p.A1083D	p.A985D			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	21	3722	+	Medulloblastoma(99;0.227)		1083	Y -> H (in Ref. 2; CAH10497).				Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2954C>A	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937907|1.937907	0.34189|0.34189	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91792|.	-2.59;-2.91;-2.59;-2.59;-2.91|.	3.96|3.96	0.297|0.297	0.15762|0.15762	.|.	1.176010|.	0.06525|.	N|.	0.740437|.	T|.	0.15955|.	0.0384|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36535|.	0.557;0.403;0.032|.	B;B;B|.	0.30572|.	0.117;0.083;0.011|.	T|.	0.28618|.	-1.0038|.	10|.	0.72032|.	D|.	0.01|.	0.0521|0.0521	5.9021|5.9021	0.18972|0.18972	0.0:0.6:0.1671:0.2328|0.0:0.6:0.1671:0.2328	.|.	752;985;1083|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|X	1083;985;1083;1102;985|750;413	ENSP00000385852:A1083D;ENSP00000384429:A985D;ENSP00000383939:A1083D;ENSP00000384114:A1102D;ENSP00000302028:A985D|.	ENSP00000302028:A985D|.	A|C	+|+	2|3	0|2	SETD5|SETD5	9489972|9489972	0.793000|0.793000	0.28825|0.28825	0.898000|0.898000	0.35279|0.35279	0.997000|0.997000	0.91878|0.91878	1.464000|1.464000	0.35288|0.35288	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.488	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		29	149	1	0	1.61788e-16	1	1.7777e-16	29	149					A	9514972	C	A	9514972	3	1	79	1	0	0	0	0	1	0	0	0	14184	797	28	3	3318	3	SETD5	3	9514972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8647	9514972	188507458	3745	14062											
SETD5	55209	broad.mit.edu	37	chr3	9517250	9517250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggacatcctacacaGtctccaggatacagttatcg	8	11	2	1	rs373046266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	ENST00000406341.1	+	22	3994	c.3804G>T	c.(3802-3804)caG>caT	p.Q1268H	SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q1170H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1268	Ser-rich.									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)		ATCCTACACAGTCTCCAGGAT	0.522																																						ENST00000402466.1																			0				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						c.(3508-3510)caG>caT		SET domain containing 5							75	70	72					3																	9517250		1900	4118	6018	SO:0001583	missense	55209							g.chr3:9517250G>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.3804G>T	3.37:g.9517250G>T	ENSP00000383939:p.Gln1268His					SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1268H	p.Q1170H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4278	+	Medulloblastoma(99;0.227)		1268			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3510G>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705524	0.48412	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.74;-3.08	5.57	0.0657	0.14358	.	0.000000	0.64402	D	0.000003	D	0.89298	0.6675	N	0.24115	0.695	0.27653	N	0.947312	D;D;P	0.59767	0.986;0.986;0.94	P;P;P	0.57152	0.814;0.814;0.459	D	0.84108	0.0399	10	0.59425	D	0.04	-4.3563	9.924	0.41481	0.3264:0.0:0.559:0.1146	.	937;1170;1268	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	H	1268;1170;1268;1287;1170	ENSP00000385852:Q1268H;ENSP00000384429:Q1170H;ENSP00000383939:Q1268H;ENSP00000384114:Q1287H;ENSP00000302028:Q1170H	ENSP00000302028:Q1170H	Q	+	3	2	SETD5	9492250	0.122000	0.22280	0.988000	0.46212	0.957000	0.61999	-0.783000	0.04638	-0.529000	0.06358	-0.332000	0.08345	CAG		0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		36	328	1	0	2.05212e-20	1	2.2997e-20	36	328					T	9517250	G	T	9517250	3	4	79	1	0	0	0	0	1	0	0	0	14184	1020	36	3	3886	3	SETD5	3	9517250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2278	9517250	188505180	3746	14063											
MTMR14	64419	broad.mit.edu	37	chr3	9726291	9726291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgggctgctggtacaCtgtatctcaggctgggatcg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	329					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(985-987)caC>caT		myotubularin related protein 14							134	132	132					3																	9726291		2023	4173	6196	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9726291C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.987C>T	3.37:g.9726291C>T						MTMR14_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000351233.5_Silent_p.H329H	p.H329H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			11	1109	+	Medulloblastoma(99;0.227)		329					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.987C>T	CCDS43043.1																																																																																				0.582	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		90	451	0	0	0	1	0	90	451					T	9726291	C	T	9726291	2	4	79	1	0	0	0	0	0	0	0	1	9983	564	20	2		2	MTMR14	3	9726291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209041	9726291	188296139	3747	14064											
MTMR14	64419	broad.mit.edu	37	chr3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcatctccctcctgcGcctttccttgtgggctgtga	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	345					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1033-1035)cGc>cAc		myotubularin related protein 14							113	109	110					3																	9726338		1976	4146	6122	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9726338G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1034G>A	3.37:g.9726338G>A	ENSP00000296003:p.Arg345His					MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H	p.R345H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			11	1156	+	Medulloblastoma(99;0.227)		345					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.1034G>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139862	0.94560	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.72	5.72	0.89469	.	0.046924	0.85682	D	0.000000	D	0.95900	0.8665	M	0.83483	2.645	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;0.996;1.0;1.0	D	0.95919	0.8929	10	0.87932	D	0	-2.6883	19.8766	0.96875	0.0:0.0:1.0:0.0	.	99;345;345;345	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	H	345;99;345;345;345;117	ENSP00000323462:R345H;ENSP00000401993:R99H;ENSP00000296003:R345H;ENSP00000334070:R345H;ENSP00000388746:R117H	ENSP00000296003:R345H	R	+	2	0	MTMR14	9701338	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	CGC		0.587	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		78	350	0	0	0	1	0	78	350					A	9726338	G	A	9726338	3	1	79	1	0	0	0	0	1	0	0	0	9983	1087	38	1	1076	1	MTMR14	3	9726338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	9726338	188296092	3748	14065											
CPNE9	151835	broad.mit.edu	37	chr3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggaaaagcaaaatctgCgcttcgatgtgtgaggcccc	12	9	1	2	rs372048564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	84	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCAAAATCTGCGCTTCGATGT	0.602																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(250-252)Cgc>Tgc		copine family member IX							41	41	41					3																	9746668		1932	4141	6073	SO:0001583	missense	151835							g.chr3:9746668C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.250C>T	3.37:g.9746668C>T	ENSP00000373343:p.Arg84Cys					CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			4	440	+	Medulloblastoma(99;0.227)		84			C2 1.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.250C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037375	0.93630	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70516	-0.49;-0.49	3.7	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.216690	0.37530	N	0.002044	D	0.87958	0.6309	H	0.96080	3.765	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.92327	0.5870	10	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	84	Q8IYJ1	CPNE9_HUMAN	C	84	ENSP00000373343:R84C;ENSP00000373342:R84C	ENSP00000373342:R84C	R	+	1	0	CPNE9	9721668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.082000	0.62665	0.444000	0.29173	CGC		0.602	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		14	69	0	0	0	1	0	14	69					T	9746668	C	T	9746668	3	4	79	1	0	0	0	0	1	0	0	0	3828	768	27	1	264	1	CPNE9	3	9746668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20330	9746668	188275762	3749	14066											
BRPF1	7862	broad.mit.edu	37	chr3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagatcaaggttcagcagaTtgccatggagatgcagctga	12	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000457855.1	+	5	1882	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	624	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCAGCAGATTGCCATGGAG	0.542																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1870-1872)aTt>aAt		bromodomain and PHD finger containing, 1							71	69	70					3																	9783725		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783725T>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1871T>A	3.37:g.9783725T>A	ENSP00000410210:p.Ile624Asn					BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N|BRPF1_ENST00000457855.1_Missense_Mutation_p.I624N|BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N	p.I624N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			6	2275	+	Medulloblastoma(99;0.227)		624			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1871T>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407974	0.25378	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15372	2.43;2.43;3.82;2.43;2.43	5.19	5.19	0.71726	Bromodomain (1);	0.205038	0.51477	D	0.000084	T	0.12220	0.0297	N	0.08118	0	0.39313	D	0.965114	B;B;B;B	0.24186	0.099;0.002;0.001;0.001	B;B;B;B	0.35688	0.208;0.007;0.001;0.003	T	0.29882	-0.9997	10	0.19590	T	0.45	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	624;624;624;624	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	624	ENSP00000402485:I624N;ENSP00000398863:I624N;ENSP00000373340:I624N;ENSP00000306297:I624N;ENSP00000410210:I624N	ENSP00000306297:I624N	I	+	2	0	BRPF1	9758725	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.127000	0.64727	2.074000	0.62210	0.460000	0.39030	ATT		0.542	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		40	220	0	0	0	1	0	40	220					A	9783725	T	A	9783725	3	1	79	1	0	0	0	0	1	0	0	0	1524	1493	52	5	1889	5	BRPF1	3	9783725	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37057	9783725	188238705	3750	14067											
BRPF1	7862	broad.mit.edu	37	chr3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccccagccacggaggcagTcctgtggggcccccccagct	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000457855.1	+	8	2789	c.2778T>G	c.(2776-2778)agT>agG	p.S926R	BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000433861.2_Intron			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	926	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACGGAGGCAGTCCTGTGGGGC	0.657																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2794-2796)agT>agG		bromodomain and PHD finger containing, 1							16	21	19					3																	9786068		2200	4294	6494	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9786068T>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2778T>G	3.37:g.9786068T>G	ENSP00000410210:p.Ser926Arg					BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000457855.1_Missense_Mutation_p.S926R|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R	p.S932R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			9	3200	+	Medulloblastoma(99;0.227)		926			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2796T>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314121	0.60414	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18174	2.23;3.62;2.23;2.23	5.85	2.14	0.27477	.	0.085141	0.85682	D	0.000000	T	0.22244	0.0536	L	0.59436	1.845	0.58432	D	0.999994	D;D;P	0.57899	0.981;0.981;0.818	P;P;B	0.54026	0.74;0.74;0.331	T	0.08166	-1.0735	10	0.19590	T	0.45	.	6.4094	0.21682	0.0:0.5401:0.0:0.4599	.	925;932;926	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	R	925;932;926;926	ENSP00000398863:S925R;ENSP00000373340:S932R;ENSP00000306297:S926R;ENSP00000410210:S926R	ENSP00000306297:S926R	S	+	3	2	BRPF1	9761068	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.545000	0.23268	0.460000	0.27045	0.459000	0.35465	AGT		0.657	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		38	146	0	0	0	1	0	38	146					G	9786068	T	G	9786068	3	3	79	1	0	0	0	0	1	0	0	0	1524	1664	58	4	2826	4	BRPF1	3	9786068	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2343	9786068	188236362	3751	14068											
CAMK1	8536	broad.mit.edu	37	chr3	9804668	9804668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacctggaagatgaggCggctggcgtcccgctccgtg	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9804668C>T	ENST00000256460.3	-	5	536	c.359G>A	c.(358-360)cGc>cAc	p.R120H	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAAGATGAGGCGGCTGGCGTC	0.587																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(358-360)cGc>cAc		calcium/calmodulin-dependent protein kinase I							66	59	62					3																	9804668		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804668C>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.359G>A	3.37:g.9804668C>T	ENSP00000256460:p.Arg120His					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	p.R120H	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	536	-	Medulloblastoma(99;0.227)		120			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.359G>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547768	0.27652	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.66099	-0.19;-0.19	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.265901	0.38005	N	0.001846	T	0.32675	0.0837	N	0.03930	-0.32	0.35639	D	0.810819	B	0.02656	0.0	B	0.09377	0.004	T	0.37197	-0.9716	10	0.20519	T	0.43	-19.8959	5.8675	0.18783	0.0:0.6541:0.1806:0.1653	.	120	Q14012	KCC1A_HUMAN	H	120;76	ENSP00000256460:R120H;ENSP00000404587:R76H	ENSP00000256460:R120H	R	-	2	0	CAMK1	9779668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.345000	0.52182	2.357000	0.79964	0.462000	0.41574	CGC		0.587	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		7	230	0	0	0	1	0	7	230					T	9804668	C	T	9804668	3	4	79	1	0	0	0	0	1	0	0	0	2603	768	27	1	785	1	CAMK1	3	9804668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18600	9804668	188217762	3752	14069											
CAMK1	8536	broad.mit.edu	37	chr3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgccttccttgccctccaGggcctccttggcaatgcatt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302036.7_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(166-168)Ctg>Atg		calcium/calmodulin-dependent protein kinase I							75	69	71					3																	9807492		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9807492G>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.166C>A	3.37:g.9807492G>T	ENSP00000256460:p.Leu56Met					OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000383826.5_Splice_Site	p.L56M	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	3	343	-	Medulloblastoma(99;0.227)		56			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.166C>A	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492059|3.492059	0.64074|0.64074	.|.	.|.	ENSG00000114026|ENSG00000134072	ENST00000302036;ENST00000349503;ENST00000302008;ENST00000383826;ENST00000352937|ENST00000256460	.|T	.|0.65549	.|-0.16	4.87|4.87	3.02|3.02	0.34903|0.34903	.|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	.|0.64402	.|D	.|0.000002	.|T	.|0.70193	.|0.3196	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.69479	.|0.964	.|T	.|0.68830	.|-0.5305	.|10	.|0.39692	.|T	.|0.17	.|-9.6405	11.8014|11.8014	0.52128|0.52128	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	.|56	.|Q14012	.|KCC1A_HUMAN	.|M	-1|56	.|ENSP00000256460:L56M	.|ENSP00000256460:L56M	.|L	+|-	.|1	.|2	OGG1|CAMK1	9782492|9782492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.123000|3.123000	0.50453|0.50453	1.170000|1.170000	0.42753|0.42753	0.455000|0.455000	0.32223|0.32223	.|CTG		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		35	293	1	0	3.03874e-20	1	3.40186e-20	35	293					T	9807492	G	T	9807492	3	4	79	1	0	0	0	0	1	0	0	0	2603	1014	35	3	986	3	CAMK1	3	9807492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	9807492	188214938	3753	14070											
OGG1	8536	broad.mit.edu	37	chr3	9807626	9807626	+	Intron	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actggaaccccagcttccctCcagcctctcctccattccct	4	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807626C>A	ENST00000256460.3	-	3	261				OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000302036.7_Missense_Mutation_p.S361Y	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGCTTCCCTCCAGCCTCTCC	0.577																																						ENST00000302036.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1081-1083)tCc>tAc	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							77	66	70					3																	9807626		2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9807626C>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.84-52G>T	3.37:g.9807626C>A						OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000302008.8_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000383826.5_3'UTR	p.S361Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN			7	1425	+	Medulloblastoma(99;0.227)		0					Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.1082C>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671888	0.47781	.	.	ENSG00000114026	ENST00000302036;ENST00000349503	T;T	0.63580	-0.05;0.95	3.51	-0.731	0.11151	.	1.710450	0.03226	N	0.178249	T	0.40522	0.1120	N	0.08118	0	0.09310	N	1	B;B	0.34181	0.44;0.164	B;B	0.34536	0.185;0.037	T	0.33240	-0.9876	10	0.54805	T	0.06	-2.0579	3.6462	0.08186	0.0:0.4499:0.1946:0.3556	.	294;361	E5KPM6;E5KPM5	.;.	Y	361;294	ENSP00000306561:S361Y;ENSP00000303132:S294Y	ENSP00000306561:S361Y	S	+	2	0	OGG1	9782626	0.002000	0.14202	0.001000	0.08648	0.079000	0.17450	0.580000	0.23803	-0.155000	0.11098	0.557000	0.71058	TCC		0.577	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		58	229	1	0	1.19403e-26	1	1.3775e-26	58	229					A	9807626	C	A	9807626	1	1	79	0	1	0	0	0	0	0	0	0	10887	855	30	3		3	OGG1	3	9807626	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	9807626	188214804	3754	14071											
TTLL3	26140	broad.mit.edu	37	chr3	9862345	9862345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttggcccacatggacatCgacaaggacctggaggcccc	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000547186.1	+	7	861	c.645C>T	c.(643-645)atC>atT	p.I215I	ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000383827.1_Silent_p.I3I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	215	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(7-9)atC>atT		tubulin tyrosine ligase-like family, member 3							158	138	145					3																	9862345		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9862345C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.645C>T	3.37:g.9862345C>T						TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000547186.1_Silent_p.I215I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I	p.I3I			Q9Y4R7	TTLL3_HUMAN			1	2290	+	Medulloblastoma(99;0.227)		215					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.9C>T		.	.	.	.	.	.	.	.	.	.	C	10.93	1.490530	0.26686	.	.	ENSG00000214021	ENST00000310252;ENST00000452823	.	.	.	4.87	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5914	0.39548	0.0961:0.3039:0.0:0.6	.	.	.	.	X	171;133	.	.	R	+	1	2	TTLL3	9837345	0.001000	0.12720	0.899000	0.35326	0.993000	0.82548	-2.110000	0.01334	-1.158000	0.02811	-0.254000	0.11334	CGA		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		98	452	0	0	0	1	0	98	452					T	9862345	C	T	9862345	2	4	79	1	0	0	0	0	0	0	0	1	16782	874	31	1		1	TTLL3	3	9862345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54719	9862345	188160085	3755	14072											
TTLL3	26140	broad.mit.edu	37	chr3	9874919	9874919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgctgacccagcgaggCtctggggaaggcaaggactc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000547186.1	+	11	1902	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	562					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1684-1686)ggC>ggT		tubulin tyrosine ligase-like family, member 3							27	29	28					3																	9874919		1912	4111	6023	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9874919C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1686C>T	3.37:g.9874919C>T						TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000397241.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000455274.1_Intron	p.G562G	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			11	1902	+	Medulloblastoma(99;0.227)		562					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.1686C>T																																																																																					0.642	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		48	168	0	0	0	1	0	48	168					T	9874919	C	T	9874919	2	4	79	1	0	0	0	0	0	0	0	1	16782	784	28	2		2	TTLL3	3	9874919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12574	9874919	188147511	3756	14073											
IL17RC	84818	broad.mit.edu	37	chr3	9960032	9960032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctagggcactgggaagaGcctgaagatgaggaaaagtt	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	ENST00000295981.3	+	4	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	169					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGGGAAGAGCCTGAAGATG	0.607																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(505-507)gaG>gaA		interleukin 17 receptor C							50	56	54					3																	9960032		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9960032G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.507G>A	3.37:g.9960032G>A						IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.E98E	p.E169E	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			4	725	+			169					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.507G>A	CCDS2590.1																																																																																				0.607	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		11	50	0	0	0	1	0	11	50					A	9960032	G	A	9960032	2	1	79	1	0	0	0	0	0	0	0	1	7671	962	34	2		2	IL17RC	3	9960032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85113	9960032	188062398	3757	14074											
IL17RC	84818	broad.mit.edu	37	chr3	9970068	9970068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgctggacgcaccGtgctcgctgcccgcagaagc	14	15	0	1	rs200216570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	390					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1168-1170)ccG>ccA		interleukin 17 receptor C		G	,,,,,	1,4405		0,1,2202	29	36	34		957,957,912,912,957,1170	-9.7	0	3		34	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	319/708,319/691,304/689,304/706,319/721,390/792	9970068	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9970068G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1170G>A	3.37:g.9970068G>A						IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P	p.P390P	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			11	1388	+			390					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1170G>A	CCDS2590.1																																																																																				0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		106	434	0	0	0	1	0	106	434					A	9970068	G	A	9970068	2	1	79	1	0	0	0	0	0	0	0	1	7671	1132	40	1		1	IL17RC	3	9970068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10036	9970068	188052362	3758	14075											
IL17RC	84818	broad.mit.edu	37	chr3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggacgatgacttgggagCgctatgggcctgccccatgg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|CRELD1_ENST00000326434.5_5'Flank|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	525					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1573-1575)gCg>gTg		interleukin 17 receptor C							272	256	261					3																	9972601		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9972601C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1574C>T	3.37:g.9972601C>T	ENSP00000295981:p.Ala525Val					IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V	p.A525V	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			16	1792	+			525					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1574C>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798909	0.02841	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.55	2.51	0.30379	.	0.247503	0.28647	N	0.014618	T	0.13286	0.0322	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29627	0.078;0.054;0.026;0.026;0.04;0.032;0.043;0.231;0.252	B;B;B;B;B;B;B;B;B	0.21151	0.012;0.007;0.005;0.005;0.003;0.003;0.012;0.013;0.033	T	0.27191	-1.0081	10	0.13853	T	0.58	-2.586	7.2918	0.26370	0.0:0.7655:0.0:0.2345	.	439;293;422;437;454;293;439;525;454	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	V	439;525;454;293;422;454	ENSP00000373323:A439V;ENSP00000295981:A525V;ENSP00000384969:A454V;ENSP00000395315:A293V;ENSP00000407894:A422V;ENSP00000396064:A454V	ENSP00000295981:A525V	A	+	2	0	IL17RC	9947601	0.004000	0.15560	0.029000	0.17559	0.314000	0.28054	0.208000	0.17415	0.494000	0.27859	0.462000	0.41574	GCG		0.512	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		139	612	0	0	0	1	0	139	612					T	9972601	C	T	9972601	3	4	79	1	0	0	0	0	1	0	0	0	7671	768	27	1	1636	1	IL17RC	3	9972601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	9972601	188049829	3759	14076											
CRELD1	78987	broad.mit.edu	37	chr3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgaggcagaacgcaacGccagccatctggtatgttcg	11	11	1	2	rs200024536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	206					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642													G|||	2	0.000399361	0.0	0.0029	5008	,	,		14398	0.0		0.0	False		,,,				2504	0.0					ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(616-618)Gcc>Acc		cysteine-rich with EGF-like domains 1							74	73	73					3																	9982689		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982689G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.616G>A	3.37:g.9982689G>A	ENSP00000373322:p.Ala206Thr					CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	p.A206T	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1215	+			206					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.616G>A	CCDS2593.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.35	1.911143	0.33721	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62364	0.14;0.14;0.14;0.03	5.33	-1.41	0.08941	EGF-like, laminin (1);Growth factor, receptor (1);	0.494060	0.20817	N	0.085124	T	0.22126	0.0533	N	0.05124	-0.11	0.21445	N	0.999681	B;B	0.18013	0.0;0.025	B;B	0.12837	0.0;0.008	T	0.09975	-1.0650	9	.	.	.	.	4.0109	0.09623	0.3124:0.0:0.4295:0.2581	.	206;206	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	206	ENSP00000380355:A206T;ENSP00000373322:A206T;ENSP00000393643:A206T;ENSP00000321856:A206T	.	A	+	1	0	CRELD1	9957689	0.552000	0.26505	0.968000	0.41197	0.985000	0.73830	0.141000	0.16076	-0.034000	0.13713	0.561000	0.74099	GCC		0.642	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		82	347	0	0	0	1	0	82	347					A	9982689	G	A	9982689	3	1	79	1	0	0	0	0	1	0	0	0	3875	1087	38	1	634	1	CRELD1	3	9982689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10088	9982689	188039741	3760	14077											
CRELD1	78987	broad.mit.edu	37	chr3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgatgctcaggacctgaGgaatcaaactgtttgcaatg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	225					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(673-675)gaG>gaT		cysteine-rich with EGF-like domains 1							115	110	112					3																	9982832		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982832G>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.675G>T	3.37:g.9982832G>T	ENSP00000373322:p.Glu225Asp					CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D	p.E225D	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			6	1274	+			225					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.675G>T	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109127	0.37242	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.96	3.11	0.35812	Growth factor, receptor (1);	0.192965	0.43919	D	0.000509	T	0.67353	0.2884	N	0.03608	-0.345	0.39846	D	0.97317	P;B	0.38922	0.651;0.42	B;B	0.35859	0.212;0.099	T	0.63220	-0.6686	9	.	.	.	-11.5993	8.3398	0.32237	0.0873:0.1569:0.7558:0.0	.	225;225	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	225	ENSP00000380355:E225D;ENSP00000373322:E225D;ENSP00000393643:E225D;ENSP00000321856:E225D	.	E	+	3	2	CRELD1	9957832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	0.637000	0.30526	0.561000	0.74099	GAG		0.602	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		63	321	1	0	1.05635e-38	1	1.2743e-38	63	321					T	9982832	G	T	9982832	3	4	79	1	0	0	0	0	1	0	0	0	3875	991	35	3	697	3	CRELD1	3	9982832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	9982832	188039598	3761	14078											
PRRT3	285368	broad.mit.edu	37	chr3	9988167	9988167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgccagaagccgcaGcggctgccccgtcgggtgct	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	ENST00000412055.1	-	4	2819	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	897						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGAAGCCGCAGCGGCTGCCCC	0.692																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(2689-2691)gCt>gTt		proline-rich transmembrane protein 3							4	6	5					3																	9988167		1691	3731	5422	SO:0001583	missense	285368					integral to membrane		g.chr3:9988167G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.2690C>T	3.37:g.9988167G>A	ENSP00000392511:p.Ala897Val						p.A897V	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			4	2819	-			897					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.2690C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	4.230	0.041659	0.08196	.	.	ENSG00000163704	ENST00000412055	T	0.15603	2.41	3.27	-0.221	0.13126	.	0.669651	0.12827	N	0.435914	T	0.07324	0.0185	N	0.08118	0	0.43130	D	0.994861	B	0.20671	0.047	B	0.21917	0.037	T	0.34229	-0.9837	9	.	.	.	-0.0266	7.4875	0.27441	0.0:0.5147:0.311:0.1743	.	897	Q5FWE3	PRRT3_HUMAN	V	897	ENSP00000392511:A897V	.	A	-	2	0	PRRT3	9963167	0.009000	0.17119	0.001000	0.08648	0.440000	0.31957	0.593000	0.23999	0.153000	0.19213	0.491000	0.48974	GCT		0.692	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		6	41	0	0	0	1	0	6	41					A	9988167	G	A	9988167	3	1	79	1	0	0	0	0	1	0	0	0	12658	971	34	2	259	2	PRRT3	3	9988167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	9988167	188034263	3762	14079											
PRRT3	285368	broad.mit.edu	37	chr3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtactgagccaacatcagGggctgctggatcctgctggg	16	10	1	1	rs376844783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	250	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(748-750)Cct>Tct		proline-rich transmembrane protein 3		G	SER/PRO	0,4300		0,0,2150	44	52	49		748	0.7	0	3		49	1,8559		0,1,4279	no	missense	PRRT3	NM_207351.3	74	0,1,6429	AA,AG,GG		0.0117,0.0,0.0078	benign	250/982	9991052	1,12859	2150	4280	6430	SO:0001583	missense	285368					integral to membrane		g.chr3:9991052G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.748C>T	3.37:g.9991052G>A	ENSP00000392511:p.Pro250Ser					PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S	p.P250S	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	877	-			250			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.748C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886714	0.02511	0.0	1.17E-4	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21734	2.35;1.99	3.52	0.734	0.18294	.	0.471138	0.18199	N	0.148572	T	0.10380	0.0254	N	0.16656	0.425	0.09310	N	1	B;B	0.25563	0.011;0.129	B;B	0.20767	0.018;0.031	T	0.32745	-0.9895	9	.	.	.	-0.9377	8.1237	0.30986	0.3086:0.0:0.6914:0.0	.	250;250	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	250	ENSP00000392511:P250S;ENSP00000404512:P250S	.	P	-	1	0	PRRT3	9966052	0.739000	0.28196	0.028000	0.17463	0.001000	0.01503	0.645000	0.24782	-0.071000	0.12886	-0.813000	0.03139	CCT		0.597	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		66	306	0	0	0	1	0	66	306					A	9991052	G	A	9991052	3	1	79	1	0	0	0	0	1	0	0	0	12658	1232	43	2	2209	2	PRRT3	3	9991052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2885	9991052	188031378	3763	14080											
TMEM111	55831	broad.mit.edu	37	chr3	10011449	10011449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggccatggctgctcccGtcatctgctcctgcatcatt	9	15	3	0	rs144158403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10011449G>A	ENST00000245046.2	-	7	1069	c.611C>T	c.(610-612)aCg>aTg	p.T204M	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	204						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGCTGCTCCCGTCATCTGCTC	0.522																																						ENST00000245046.2																			0											c.(610-612)aCg>aTg		ER membrane protein complex subunit 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	114	101	106		611	5.4	1	3	dbSNP_134	106	0,8600		0,0,4300	no	missense	TMEM111	NM_018447.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	204/262	10011449	1,13005	2203	4300	6503	SO:0001583	missense	55831							g.chr3:10011449G>A	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.611C>T	3.37:g.10011449G>A	ENSP00000245046:p.Thr204Met					EMC3_ENST00000497557.1_5'UTR	p.T204M	NM_018447.2	NP_060917.1					7	1069	-								B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	ENST00000245046.2	37	c.611C>T	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564403	0.45694	2.27E-4	0.0	ENSG00000125037	ENST00000245046	.	.	.	5.41	5.41	0.78517	.	0.042541	0.85682	D	0.000000	T	0.45478	0.1344	L	0.28274	0.84	0.80722	D	1	B;B	0.23650	0.02;0.089	B;B	0.18561	0.011;0.022	T	0.30995	-0.9959	9	0.25751	T	0.34	.	16.6904	0.85320	0.0:0.0:1.0:0.0	.	204;204	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	M	204	.	ENSP00000245046:T204M	T	-	2	0	TMEM111	9986449	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	3.268000	0.51585	2.530000	0.85305	0.655000	0.94253	ACG		0.522	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		65	269	0	0	0	1	0	65	269					A	10011449	G	A	10011449	3	1	79	1	0	0	0	0	1	0	0	0	16080	1145	40	1	182	1	TMEM111	3	10011449	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20397	10011449	188010981	3764	14081											
FANCD2	2177	broad.mit.edu	37	chr3	10107141	10107141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttgtgtggagagacaGcataacggaaacttggagga	14	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2230-2232)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							178	177	177					3																	10107141		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107141G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2232G>A	3.37:g.10107141G>A						FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q	p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2325	+			744					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2232G>A	CCDS33696.1																																																																																				0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			101	455	0	0	0	1	0	101	455					A	10107141	G	A	10107141	2	1	79	1	0	0	0	0	0	0	0	1	5690	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95692	10107141	187915289	3765	14082											
FANCD2	2177	broad.mit.edu	37	chr3	10116274	10116274	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattcccatgcttttttcCgagagctggacattgaggtc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10116274C>T	ENST00000419585.1	+	29	2937	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	926					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCTTTTTTCCGAGAGCTGGA	0.398			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2776-2778)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							138	124	129					3																	10116274		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10116274C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2776C>T	3.37:g.10116274C>T	ENSP00000398754:p.Arg926*					FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*	p.R926*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	29	2869	+			926					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.2776C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	42	9.551584	0.99202	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	926	.	ENSP00000287647:R926X	R	+	1	2	FANCD2	10091274	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.974000	0.63771	2.749000	0.94314	0.650000	0.86243	CGA		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			8	303	0	0	0	1	0	8	303					T	10116274	C	T	10116274	4	4	79	1	0	0	0	0	0	1	0	0	5690	644	23	1	2886	1	FANCD2	3	10116274	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9133	10116274	187906156	3766	14083											
C3orf24	115795	broad.mit.edu	37	chr3	10146033	10146033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtcatctgaatctgaggCtccttcagtccaatgggcca	9	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10146033C>A	ENST00000450660.2	-	2	642	c.426G>T	c.(424-426)gaG>gaT	p.E142D	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.E142D	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	142																	GAATCTGAGGCTCCTTCAGTC	0.488																																						ENST00000450660.2																			0											c.(424-426)gaG>gaT		FANCD2 opposite strand							147	135	139					3																	10146033		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146033C>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.426G>T	3.37:g.10146033C>A	ENSP00000429608:p.Glu142Asp					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.E142D	p.E142D	NM_001164839.1	NP_001158311.1					2	642	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.426G>T	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610865	0.46527	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	1.43	0.22495	.	0.000000	0.64402	D	0.000001	T	0.52677	0.1749	L	0.29908	0.895	0.36691	D	0.879583	D	0.55605	0.972	P	0.59948	0.866	T	0.58940	-0.7547	9	0.87932	D	0	.	9.2381	0.37479	0.0:0.6232:0.0:0.3768	.	142	Q96PS1	CC024_HUMAN	D	142	.	ENSP00000429608:E142D	E	-	3	2	C3orf24	10121033	0.991000	0.36638	0.999000	0.59377	0.993000	0.82548	0.140000	0.16056	0.226000	0.20979	-0.156000	0.13503	GAG		0.488	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		25	496	1	0	2.44723e-14	1	2.65813e-14	25	496					A	10146033	C	A	10146033	3	1	79	1	0	0	0	0	1	0	0	0	2224	796	28	3	111	3	C3orf24	3	10146033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29759	10146033	187876397	3767	14084											
TATDN2	9797	broad.mit.edu	37	chr3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgttctggagggcccaGcagccccaagcgcctgaaag	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	50					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGGGCCCAGCAGCCCCAAG	0.667																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(148-150)aGc>aTc		TatD DNase domain containing 2							51	62	58					3																	10291033		2202	4299	6501	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291033G>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.149G>T	3.37:g.10291033G>T	ENSP00000287652:p.Ser50Ile					TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1200	+			50					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.149G>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596076	0.28445	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25250	1.81;1.81	4.16	4.16	0.48862	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.28926	N	0.891843	B	0.32693	0.38	B	0.34180	0.177	T	0.24048	-1.0171	9	0.87932	D	0	-5.437	12.1708	0.54157	0.0:0.0:1.0:0.0	.	50	Q93075	TATD2_HUMAN	I	50	ENSP00000287652:S50I;ENSP00000408736:S50I	ENSP00000287652:S50I	S	+	2	0	TATDN2	10266033	0.805000	0.28982	0.883000	0.34634	0.029000	0.11900	1.465000	0.35299	2.304000	0.77564	0.563000	0.77884	AGC		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		138	609	1	0	5.20384e-49	1	6.43188e-49	138	609					T	10291033	G	T	10291033	3	4	79	1	0	0	0	0	1	0	0	0	15644	971	34	3	151	3	TATDN2	3	10291033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145000	10291033	187731397	3768	14085											
TATDN2	9797	broad.mit.edu	37	chr3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagccacctggagccaaGcctagaggagggcttcattg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	490					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGCCAAGCCTAGAGGAG	0.498																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1468-1470)aGc>aAc		TatD DNase domain containing 2							67	65	66					3																	10312335		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312335G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1469G>A	3.37:g.10312335G>A	ENSP00000287652:p.Ser490Asn					TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N|RP11-438J1.1_ENST00000450534.1_3'UTR	p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2520	+			490					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1469G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495864	0.26774	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23950	1.88;1.88	5.0	2.21	0.28008	.	1.020500	0.07845	N	0.963704	T	0.17023	0.0409	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28808	-1.0032	10	0.54805	T	0.06	-3.2363	3.5254	0.07757	0.2796:0.0:0.5426:0.1779	.	490	Q93075	TATD2_HUMAN	N	490	ENSP00000287652:S490N;ENSP00000408736:S490N	ENSP00000287652:S490N	S	+	2	0	TATDN2	10287335	0.012000	0.17670	0.117000	0.21633	0.411000	0.31082	0.275000	0.18698	0.638000	0.30545	0.644000	0.83932	AGC		0.498	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		66	270	0	0	0	1	0	66	270					A	10312335	G	A	10312335	3	1	79	1	0	0	0	0	1	0	0	0	15644	971	34	2	1479	2	TATDN2	3	10312335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21302	10312335	187710095	3769	14086											
SEC13	6396	broad.mit.edu	37	chr3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgtcttgtcactgctCgttctgctggccctctgtca	8	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000350697.3	-	9	1086	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000383801.2_Missense_Mutation_p.E367K	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	321					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607																																						ENST00000383801.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(1099-1101)Gag>Aag		SEC13 homolog (S. cerevisiae)							104	84	91					3																	10342953		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10342953C>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.961G>A	3.37:g.10342953C>T	ENSP00000312122:p.Glu321Lys					SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000350697.3_Missense_Mutation_p.E321K	p.E367K			P55735	SEC13_HUMAN			10	1170	-			321					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.1099G>A	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616837	0.87359	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.68479	0.93;-0.21;-0.33;-0.33	5.23	5.23	0.72850	.	0.102103	0.64402	D	0.000002	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;B	0.38827	0.649;0.203	B;B	0.28991	0.097;0.012	T	0.65869	-0.6063	10	0.62326	D	0.03	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	367;321	B4DXJ1;P55735	.;SEC13_HUMAN	K	307;324;321;367	ENSP00000380298:E307K;ENSP00000336566:E324K;ENSP00000312122:E321K;ENSP00000373312:E367K	ENSP00000336566:E324K	E	-	1	0	SEC13	10317953	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG		0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			88	343	0	0	0	1	0	88	343					T	10342953	C	T	10342953	3	4	79	1	0	0	0	0	1	0	0	0	14030	893	31	1	11	1	SEC13	3	10342953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30618	10342953	187679477	3770	14087											
SEC13	6396	broad.mit.edu	37	chr3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccacttgccacacaGgaccctcatgactacaaagg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000350697.3	-	4	301	c.176C>A	c.(175-177)cCt>cAt	p.P59H	SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397117.1_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	59					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(133-135)cCt>cAt		SEC13 homolog (S. cerevisiae)							96	90	92					3																	10354403		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10354403G>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.176C>A	3.37:g.10354403G>T	ENSP00000312122:p.Pro59His					SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000350697.3_Missense_Mutation_p.P59H	p.P45H			P55735	SEC13_HUMAN			4	725	-			59					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.134C>A	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672335	0.88348	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.93	4.93	0.64822	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	0.77432	0.4129	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80303	-0.1439	10	0.87932	D	0	.	15.6632	0.77206	0.0:0.0:1.0:0.0	.	59;59;45;105;59	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	45;62;59;45;105;59;62	ENSP00000380298:P45H;ENSP00000336566:P62H;ENSP00000312122:P59H;ENSP00000380306:P45H;ENSP00000373312:P105H;ENSP00000401368:P62H	ENSP00000336566:P62H	P	-	2	0	SEC13	10329403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.715000	0.98748	2.276000	0.75962	0.561000	0.74099	CCT		0.537	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			81	377	1	0	1.26373e-49	1	1.56379e-49	81	377					T	10354403	G	T	10354403	3	4	79	1	0	0	0	0	1	0	0	0	14030	1000	35	3	816	3	SEC13	3	10354403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11450	10354403	187668027	3771	14088											
ATP2B2	491	broad.mit.edu	37	chr3	10400486	10400486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggggaagtcgcggtaGgccacgcagatagtgcggag	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000352432.4	-	13	2094	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ATP2B2_ENST00000397077.1_Silent_p.A630A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	675					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCGGTAGGCCACGCAGA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1888-1890)gcC>gcT		ATPase, Ca++ transporting, plasma membrane 2							63	53	56					3																	10400486		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10400486G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2025C>T	3.37:g.10400486G>A						ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000352432.4_Silent_p.A675A	p.A630A			Q01814	AT2B2_HUMAN			13	2465	-			675					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1890C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		62	255	0	0	0	1	0	62	255					A	10400486	G	A	10400486	2	1	79	1	0	0	0	0	0	0	0	1	1141	987	35	2		2	ATP2B2	3	10400486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46083	10400486	187621944	3772	14089											
ATP2B2	491	broad.mit.edu	37	chr3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagcaggccgcactccGtcttgttgcccacctgccga	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000352432.4	-	12	1775	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T524M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	569					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGCACTCCGTCTTGTTGCC	0.647																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1570-1572)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 2							56	50	52					3																	10401761		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401761G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1706C>T	3.37:g.10401761G>A	ENSP00000324172:p.Thr569Met					ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T569M	p.T524M			Q01814	AT2B2_HUMAN			12	2146	-			569					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1571C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897289	0.91962	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	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	0.88284	0.6395	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90614	0.4554	10	0.87932	D	0	-23.7022	18.1486	0.89667	0.0:0.0:1.0:0.0	.	504;536;569	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	569;524;524;569;555;504;425;569	ENSP00000324172:T569M;ENSP00000373311:T524M;ENSP00000380267:T524M;ENSP00000353414:T569M;ENSP00000344677:T555M;ENSP00000414854:T425M	ENSP00000342954:T569M	T	-	2	0	ATP2B2	10376761	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	9.860000	0.99555	2.272000	0.75746	0.591000	0.81541	ACG		0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		80	343	0	0	0	1	0	80	343					A	10401761	G	A	10401761	3	1	79	1	0	0	0	0	1	0	0	0	1141	1145	40	1	2069	1	ATP2B2	3	10401761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	10401761	187620669	3773	14090											
SLC6A11	6538	broad.mit.edu	37	chr3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcctatgccatttgcCtgggctgtctgaccgctctg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	314					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGCCATTTGCCTGGGCTGTCT	0.493																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(940-942)Ctg>Atg		solute carrier family 6 (neurotransmitter transporter), member 11							182	179	180					3																	10953823		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10953823C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.940C>A	3.37:g.10953823C>A	ENSP00000254488:p.Leu314Met						p.L314M	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	7	1006	+			314					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.940C>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000132164	ENST00000254488	T	0.76839	-1.05	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.81721	0.4882	M	0.73372	2.23	0.80722	D	1	P	0.43701	0.815	P	0.50537	0.643	D	0.84237	0.0470	10	0.72032	D	0.01	.	12.3503	0.55144	0.0:0.9177:0.0:0.0822	.	314	P48066	S6A11_HUMAN	M	314	ENSP00000254488:L314M	ENSP00000254488:L314M	L	+	1	2	SLC6A11	10928823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	2.189000	0.69895	0.462000	0.41574	CTG		0.493	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		140	648	1	0	1.9399e-66	1	2.45505e-66	140	648					A	10953823	C	A	10953823	3	1	79	1	0	0	0	0	1	0	0	0	14724	680	24	3	966	3	SLC6A11	3	10953823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552062	10953823	187068607	3774	14091											
SLC6A11	6538	broad.mit.edu	37	chr3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccggaggggttaccggCgggagctgctcatcctagcc	14	12	1	0	rs527421623		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGGTTACCGGCGGGAGCTGCT	0.552																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1306-1308)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11							206	199	201					3																	10970960		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10970960C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1306C>T	3.37:g.10970960C>T	ENSP00000254488:p.Arg436Trp						p.R436W	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	10	1372	+			436					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1306C>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772455	0.69992	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.87932	D	0	.	13.2142	0.59849	0.3593:0.6407:0.0:0.0	.	436	P48066	S6A11_HUMAN	W	436	ENSP00000254488:R436W	ENSP00000254488:R436W	R	+	1	2	SLC6A11	10945960	0.203000	0.23435	1.000000	0.80357	0.995000	0.86356	0.322000	0.19576	2.376000	0.81061	0.462000	0.41574	CGG		0.552	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		208	756	0	0	0	1	0	208	756					T	10970960	C	T	10970960	3	4	79	1	0	0	0	0	1	0	0	0	14724	759	27	1	1344	1	SLC6A11	3	10970960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17137	10970960	187051470	3775	14092											
SLC6A11	6538	broad.mit.edu	37	chr3	10974869	10974869	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagctctttgactcCtatgccgccagtgggatgtg	10	12	2	1	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	468					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTTTGACTCCTATGCCGCCA	0.592																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1402-1404)tcC>tcA		solute carrier family 6 (neurotransmitter transporter), member 11							226	182	197					3																	10974869		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10974869C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1404C>A	3.37:g.10974869C>A							p.S468S	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	11	1470	+			468					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1404C>A	CCDS2602.1																																																																																				0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		92	484	1	0	2.28585e-32	1	2.69878e-32	92	484					A	10974869	C	A	10974869	2	1	79	1	0	0	0	0	0	0	0	1	14724	668	24	3		3	SLC6A11	3	10974869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	10974869	187047561	3776	14093											
SLC6A11	6538	broad.mit.edu	37	chr3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggatcttcatcttctTcttgatcaagtacaagccac	8	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	531					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTCATCTTCTTCTTGATCAAG	0.582																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1591-1593)tTc>tGc		solute carrier family 6 (neurotransmitter transporter), member 11							150	138	142					3																	10976731		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976731T>G	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1592T>G	3.37:g.10976731T>G	ENSP00000254488:p.Phe531Cys						p.F531C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1658	+			531					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1592T>G	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927541	0.52759	.	.	ENSG00000132164	ENST00000254488	T	0.74526	-0.85	4.05	4.05	0.47172	.	0.184815	0.47093	D	0.000249	T	0.72653	0.3487	L	0.29908	0.895	0.80722	D	1	B	0.33266	0.404	P	0.49637	0.617	T	0.74127	-0.3765	10	0.66056	D	0.02	.	8.2501	0.31712	0.0:0.09:0.0:0.91	.	531	P48066	S6A11_HUMAN	C	531	ENSP00000254488:F531C	ENSP00000254488:F531C	F	+	2	0	SLC6A11	10951731	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.595000	0.36708	1.840000	0.53500	0.533000	0.62120	TTC		0.582	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		119	530	0	0	0	1	0	119	530					G	10976731	T	G	10976731	3	3	79	1	0	0	0	0	1	0	0	0	14724	1783	62	4	1642	4	SLC6A11	3	10976731	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1862	10976731	187045699	3777	14094											
SLC6A1	6529	broad.mit.edu	37	chr3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgctgcatcaattcgtGcaccagcatgttcgcaggat	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	329					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(985-987)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						195	168	177					3																	11067953		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067953G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.986G>A	3.37:g.11067953G>A	ENSP00000287766:p.Cys329Tyr					SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	p.C329Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1407	+		Ovarian(110;0.0392)	329					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.986G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381368	0.61845	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	M	0.84948	2.725	0.47737	D	0.999504	P	0.45348	0.856	P	0.47470	0.548	D	0.84761	0.0762	10	0.72032	D	0.01	.	15.4803	0.75521	0.0:0.138:0.862:0.0	.	329	P30531	SC6A1_HUMAN	Y	329;151	ENSP00000287766:C329Y;ENSP00000445171:C151Y	ENSP00000287766:C329Y	C	+	2	0	SLC6A1	11042953	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.582000	0.46085	2.813000	0.96785	0.655000	0.94253	TGC		0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		135	567	0	0	0	1	0	135	567					A	11067953	G	A	11067953	3	1	79	1	0	0	0	0	1	0	0	0	14723	1319	46	2	1016	2	SLC6A1	3	11067953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91222	11067953	186954477	3778	14095											
ATG7	10533	broad.mit.edu	37	chr3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacccagaagaagctgaacGagtatcggctggatgaagct	13	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	37					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(109-111)Gag>Aag		autophagy related 7							196	183	188					3																	11340278		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340278G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.109G>A	3.37:g.11340278G>A	ENSP00000346437:p.Glu37Lys					ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K	p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			2	134	+			37					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.109G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161692	0.78226	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.17	6.17	0.99709	.	0.055781	0.64402	D	0.000001	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	P;B;B	0.46952	0.887;0.373;0.162	B;B;B	0.34242	0.178;0.073;0.033	T	0.16247	-1.0409	10	0.07325	T	0.83	-30.8945	20.4745	0.99168	0.0:0.0:1.0:0.0	.	37;37;37	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	37	ENSP00000415223:E37K;ENSP00000390547:E37K;ENSP00000411880:E37K;ENSP00000389996:E37K;ENSP00000412580:E37K;ENSP00000347042:E37K;ENSP00000346437:E37K;ENSP00000408303:E37K;ENSP00000416644:E37K	ENSP00000346437:E37K	E	+	1	0	ATG7	11315278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GAG		0.453	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		129	674	0	0	0	1	0	129	674					A	11340278	G	A	11340278	3	1	79	1	0	0	0	0	1	0	0	0	1102	1059	37	1	111	1	ATG7	3	11340278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272325	11340278	186682152	3779	14096											
ATG7	10533	broad.mit.edu	37	chr3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcccaaggacattaaGggttattactacaatggtag	10	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(142-144)aaG>aaT		autophagy related 7							167	158	161					3																	11340313		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340313G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.144G>T	3.37:g.11340313G>T	ENSP00000346437:p.Lys48Asn					ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			2	169	+			48					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.144G>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	ATG7	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG		0.428	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		104	647	1	0	8.27256e-43	1	1.00832e-42	104	647					T	11340313	G	T	11340313	3	4	79	1	0	0	0	0	1	0	0	0	1102	991	35	3	146	3	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	11340313	186682117	3780	14097											
ATG7	10533	broad.mit.edu	37	chr3	11596299	11596299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagatctgggacatgagCgatgatgagaccatctgaga	13	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	ENST00000354449.3	+	19	2119	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	698					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGGACATGAGCGATGATGAGA	0.627																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(2092-2094)agC>agT		autophagy related 7							90	81	84					3																	11596299		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11596299C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2094C>T	3.37:g.11596299C>T						ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	p.S698S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			19	2119	+			698					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.2094C>T	CCDS2605.1																																																																																				0.627	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		34	159	0	0	0	1	0	34	159					T	11596299	C	T	11596299	2	4	79	1	0	0	0	0	0	0	0	1	1102	767	27	1		1	ATG7	3	11596299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255986	11596299	186426131	3781	14098											
VGLL4	10533	broad.mit.edu	37	chr3	11600188	11600188	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagctttggcaaagtggtCgtccacggagcccgtgatgg	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11600188C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000273038.3_Missense_Mutation_p.D239N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GCAAAGTGGTCGTCCACGGAG	0.642																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(715-717)Gac>Aac		vestigial like 4 (Drosophila)							74	85	82					3																	11600188		2203	4300	6503	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600188C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600188C>T						VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N|VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N	p.D239N	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1080	-			239					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.715G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	36	5.771150	0.96914	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.67171	-0.25;-0.15;-0.22	5.27	5.27	0.74061	.	0.043968	0.85682	D	0.000000	D	0.82416	0.5032	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	D	0.84493	0.0612	10	0.87932	D	0	-38.4986	18.8719	0.92319	0.0:1.0:0.0:0.0	.	245;159;155;244;239	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	N	239;180;159;155;245;244	ENSP00000273038:D239N;ENSP00000404251:D245N;ENSP00000384705:D244N	ENSP00000273038:D239N	D	-	1	0	VGLL4	11575188	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.682000	0.84083	2.468000	0.83385	0.558000	0.71614	GAC		0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		128	564	0	0	0	1	0	128	564					T	11600188	C	T	11600188	1	4	79	0	1	0	0	0	0	0	0	0	17215	884	31	1		1	VGLL4	3	11600188	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3889	11600188	186422242	3782	14099											
SYN2	7079	broad.mit.edu	37	chr3	12203526	12203526	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattaggtcaaagtggaaaaCcactacgacttccaggacat	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12203526C>A	ENST00000287814.4	-	0	0				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTGGAAAACCACTACGACT	0.527																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							60	62	61					3																	12203526		2120	4260	6380	SO:0001631	upstream_gene_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12203526C>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12203526C>A	Exception_encountered									Q86VA8	Q86VA8_HUMAN			0	1024	+								B2R7K6	RNA	SNP	ENST00000287814.4	37		CCDS2608.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405554	0.25378	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.95	1.93	0.25924	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.91612	3.225	0.25300	N	0.989286	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66384	-0.5937	9	0.87932	D	0	-18.0842	10.4452	0.44490	0.0:0.7481:0.0:0.2519	.	284;284	Q92777;Q92777-2	SYN2_HUMAN;.	K	216	.	ENSP00000442512:N216K	N	+	3	2	SYN2	12178526	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	0.669000	0.31146	0.655000	0.94253	AAC		0.527	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		31	148	1	0	5.45727e-16	1	5.98072e-16	31	148					A	12203526	C	A	12203526	1	1	79	0	1	0	0	0	0	0	0	0	15493	506	18	3		3	SYN2	3	12203526	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603338	12203526	185818904	3783	14100											
PPARG	5468	broad.mit.edu	37	chr3	12458305	12458305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaagaggtggccatcCgcatctttcagggctgccag	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12458305C>T	ENST00000287820.6	+	6	1043	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Missense_Mutation_p.R286C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	308					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTGGCCATCCGCATCTTTCA	0.463			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"peroxisome proliferative activated receptor, gamma"	yes	"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(856-858)Cgc>Tgc		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						83	80	81					3																	12458305		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12458305C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.922C>T	3.37:g.12458305C>T	ENSP00000287820:p.Arg308Cys					PPARG_ENST00000287820.6_Missense_Mutation_p.R308C|PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C	p.R286C			P37231	PPARG_HUMAN			8	1239	+			308					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.856C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615982	0.66672	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.13	6.13	0.99165	Nuclear hormone receptor, ligand-binding (2);	0.147023	0.64402	D	0.000006	T	0.74313	0.3700	M	0.74881	2.28	0.80722	D	1	B	0.23540	0.087	B	0.21360	0.034	T	0.70132	-0.4956	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	308	P37231	PPARG_HUMAN	C	280;280;280;280;286;308	ENSP00000380205:R280C;ENSP00000312472:R280C;ENSP00000380210:R280C;ENSP00000380207:R280C;ENSP00000380221:R286C;ENSP00000287820:R308C	ENSP00000287820:R308C	R	+	1	0	PPARG	12433305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.684000	0.61686	2.937000	0.99478	0.650000	0.86243	CGC		0.463	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		13	270	0	0	0	1	0	13	270					T	12458305	C	T	12458305	3	4	79	1	0	0	0	0	1	0	0	0	12341	652	23	1	944	1	PPARG	3	12458305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254779	12458305	185564125	3784	14101											
TSEN2	80746	broad.mit.edu	37	chr3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttgcagtgctatatcGgaaaggccctccattttacc	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000284995.6	+	9	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|C3orf83_ENST00000567514.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	370					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(1030-1032)cGg>cAg		TSEN2 tRNA splicing endonuclease subunit							116	117	117					3																	12570396		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12570396G>A	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1109G>A	3.37:g.12570396G>A	ENSP00000284995:p.Arg370Gln					C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.R370Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q	p.R344Q	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			8	1418	+			370					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.1031G>A	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038279	0.75617	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.57436	0.4;0.53;0.49;0.46;0.45;0.45;0.49;0.53	5.92	5.92	0.95590	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.060440	0.64402	D	0.000004	T	0.48429	0.1499	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.25850	0.136;0.022;0.072;0.052	B;B;B;B	0.29176	0.099;0.064;0.079;0.043	T	0.33163	-0.9879	10	0.36615	T	0.2	-23.2315	19.0928	0.93235	0.0:0.0:1.0:0.0	.	344;370;344;311	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Q	370;344;311;353;370;370;344;343;344	ENSP00000406238:R370Q;ENSP00000323188:R344Q;ENSP00000392029:R311Q;ENSP00000373307:R353Q;ENSP00000385976:R370Q;ENSP00000284995:R370Q;ENSP00000407974:R344Q;ENSP00000416510:R344Q	ENSP00000284995:R370Q	R	+	2	0	TSEN2	12545396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.489000	0.73641	2.810000	0.96702	0.650000	0.86243	CGG		0.338	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		73	351	0	0	0	1	0	73	351					A	12570396	G	A	12570396	3	1	79	1	0	0	0	0	1	0	0	0	16665	1116	39	1	1139	1	TSEN2	3	12570396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112091	12570396	185452034	3785	14102											
MKRN2	23609	broad.mit.edu	37	chr3	12613662	12613662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccgagatgaagccGcattcctacctggatgccat	9	16	0	2	rs561540465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000170447.7	+	4	569	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_ENST00000411987.1_Silent_p.P101P|MKRN2_ENST00000448482.1_Silent_p.P142P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	144					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(430-432)ccG>ccA		makorin ring finger protein 2							60	62	61					3																	12613662		2203	4300	6503	SO:0001819	synonymous_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12613662G>A		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.432G>A	3.37:g.12613662G>A						MKRN2_ENST00000448482.1_Silent_p.P142P|MKRN2_ENST00000411987.1_Silent_p.P101P	p.P144P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			4	569	+			144					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	37	c.432G>A	CCDS33702.1																																																																																				0.612	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		53	246	0	0	0	1	0	53	246					A	12613662	G	A	12613662	2	1	79	1	0	0	0	0	0	0	0	1	9648	1074	38	1		1	MKRN2	3	12613662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43266	12613662	185408768	3786	14103											
MKRN2	23609	broad.mit.edu	37	chr3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgcatccggcagtggCggtgtgccaaacagtttgaa	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000170447.7	+	5	960	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W|MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	275					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(823-825)Cgg>Tgg		makorin ring finger protein 2							88	76	80					3																	12616471		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616471C>T		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.823C>T	3.37:g.12616471C>T	ENSP00000170447:p.Arg275Trp					MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W|MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W	p.R275W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			5	960	+			275					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.823C>T	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458241	0.84317	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.67865	-0.29;0.97;-0.29	5.91	-3.06	0.05379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81134	-0.1071	10	0.87932	D	0	-6.668	22.9923	0.99978	0.1948:0.8052:0.0:0.0	.	232;273;275	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	W	275;232;273	ENSP00000170447:R275W;ENSP00000396340:R232W;ENSP00000397983:R273W	ENSP00000170447:R275W	R	+	1	2	MKRN2	12591471	0.989000	0.36119	0.986000	0.45419	0.996000	0.88848	0.385000	0.20685	-0.390000	0.07774	0.655000	0.94253	CGG		0.473	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		45	215	0	0	0	1	0	45	215					T	12616471	C	T	12616471	3	4	79	1	0	0	0	0	1	0	0	0	9648	759	27	1	841	1	MKRN2	3	12616471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2809	12616471	185405959	3787	14104											
RAF1	5894	broad.mit.edu	37	chr3	12626108	12626108	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggctcggaagcgctccGgttgatcttcggtagagagt	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	618					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1852-1854)Cgg>Agg		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						142	125	131					3																	12626108		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626108G>T	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1852C>A	3.37:g.12626108G>T						RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000442415.2_Silent_p.R638R	p.R618R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			17	2291	-			618					B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1852C>A	CCDS2612.1																																																																																				0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		64	337	1	0	6.1719e-39	1	7.45173e-39	64	337					T	12626108	G	T	12626108	2	4	79	1	0	0	0	0	0	0	0	1	13052	1115	39	3		3	RAF1	3	12626108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9637	12626108	185396322	3788	14105											
CAND2	23066	broad.mit.edu	37	chr3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcagatggagacagaGgatagtgaattcagtgagca	16	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	328					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(982-984)gaG>gaT		cullin-associated and neddylation-dissociated 2 (putative)							139	145	143					3																	12854865		2109	4225	6334	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12854865G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.984G>T	3.37:g.12854865G>T	ENSP00000387641:p.Glu328Asp					CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	p.E328D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			7	1025	+			328					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.984G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922797	0.18056	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07021	3.23;3.23	4.67	-0.724	0.11177	Armadillo-type fold (1);	0.190310	0.35970	N	0.002877	T	0.05640	0.0148	N	0.02420	-0.555	0.80722	D	1	B;D	0.56035	0.002;0.974	B;D	0.70487	0.006;0.969	T	0.49062	-0.8978	10	0.10111	T	0.7	-10.9144	5.4665	0.16646	0.3542:0.1424:0.5033:0.0	.	328;235	O75155;O75155-2	CAND2_HUMAN;.	D	235;328	ENSP00000295989:E235D;ENSP00000387641:E328D	ENSP00000295989:E235D	E	+	3	2	CAND2	12829865	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	0.983000	0.29552	0.023000	0.15187	0.462000	0.41574	GAG		0.537	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		36	136	1	0	7.04047e-22	1	7.94894e-22	36	136					T	12854865	G	T	12854865	3	4	79	1	0	0	0	0	1	0	0	0	2623	991	35	3	1010	3	CAND2	3	12854865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228757	12854865	185167565	3789	14106											
CAND2	23066	broad.mit.edu	37	chr3	12856659	12856659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgaagacgagtacagCgatgacgatgacatgagctg	15	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	342					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1024-1026)agC>agT		cullin-associated and neddylation-dissociated 2 (putative)							59	67	64					3																	12856659		2155	4252	6407	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856659C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1026C>T	3.37:g.12856659C>T						CAND2_ENST00000295989.5_Silent_p.S249S	p.S342S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1067	+			342					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1026C>T	CCDS54554.1																																																																																				0.612	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		70	304	0	0	0	1	0	70	304					T	12856659	C	T	12856659	2	4	79	1	0	0	0	0	0	0	0	1	2623	767	27	1		1	CAND2	3	12856659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794	12856659	185165771	3790	14107											
CAND2	23066	broad.mit.edu	37	chr3	12858054	12858054	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaagattgcagccgaggcCctggtggtgctgcaggagct	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12858054C>A	ENST00000456430.2	+	10	1664	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	CAND2_ENST00000295989.5_Silent_p.A448A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	541					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCGAGGCCCTGGTGGTGC	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1621-1623)gcC>gcA		cullin-associated and neddylation-dissociated 2 (putative)							32	36	34					3																	12858054		2037	4192	6229	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858054C>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1623C>A	3.37:g.12858054C>A						CAND2_ENST00000295989.5_Silent_p.A448A	p.A541A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1664	+			541					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1623C>A	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		9	254	1	0	3.09899e-07	1	3.21319e-07	9	254					A	12858054	C	A	12858054	2	1	79	1	0	0	0	0	0	0	0	1	2623	610	22	3		3	CAND2	3	12858054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1395	12858054	185164376	3791	14108											
CAND2	23066	broad.mit.edu	37	chr3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagctggttctgtgaagcaGgagtttgaaaagcaagatga	13	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	RP11-767C1.2_ENST00000606447.1_RNA|CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1169					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3505-3507)caG>caT		cullin-associated and neddylation-dissociated 2 (putative)							93	94	93					3																	12875277		2020	4208	6228	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12875277G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3507G>T	3.37:g.12875277G>T	ENSP00000387641:p.Gln1169His					CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	p.Q1169H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			15	3548	+			1169					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.3507G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317076	0.60524	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.99	3.05	0.35203	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.984	D	0.85285	0.1064	10	0.87932	D	0	-32.9031	5.4587	0.16604	0.3121:0.0:0.6879:0.0	.	1169;1052	O75155;O75155-2	CAND2_HUMAN;.	H	1052;1169	ENSP00000295989:Q1052H;ENSP00000387641:Q1169H	ENSP00000295989:Q1052H	Q	+	3	2	CAND2	12850277	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.214000	0.42853	1.328000	0.45358	0.591000	0.81541	CAG		0.547	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		97	406	1	0	6.84326e-50	1	8.47065e-50	97	406					T	12875277	G	T	12875277	3	4	79	1	0	0	0	0	1	0	0	0	2623	991	35	3	3565	3	CAND2	3	12875277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17223	12875277	185147153	3792	14109											
IQSEC1	9922	broad.mit.edu	37	chr3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagcttctccaccttctGcacctgggacacatggtcct	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2167-2169)Cag>Tag		IQ motif and Sec7 domain 1							205	155	172					3																	12957129		2203	4300	6503	SO:0001587	stop_gained	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12957129G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2167C>T	3.37:g.12957129G>A	ENSP00000273221:p.Gln723*						p.Q723*	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			7	2383	-			723					O94863|Q96D85	Nonsense_Mutation	SNP	ENST00000273221.4	37	c.2167C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136507|8.136507	0.98672|0.98672	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48410|.	-0.9038|.	3|.	.|0.08599	.|T	.|0.76	.|.	17.6453|17.6453	0.88147|0.88147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	723|723;709;709	.|.	.|ENSP00000273221:Q723X	A|Q	-|-	2|1	0|0	IQSEC1|IQSEC1	12932129|12932129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.823000|7.823000	0.86660|0.86660	2.229000|2.229000	0.72834|0.72834	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.602	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		83	357	0	0	0	1	0	83	357					A	12957129	G	A	12957129	4	1	79	1	0	0	0	0	0	1	0	0	7847	1328	46	2	1301	2	IQSEC1	3	12957129	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81852	12957129	185065301	3793	14110											
IQSEC1	9922	broad.mit.edu	37	chr3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttgcagatgcagtagCgctggctgcgggccgggagg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	634	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1900-1902)cGc>cAc		IQ motif and Sec7 domain 1							86	79	81					3																	12962091		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12962091C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1901G>A	3.37:g.12962091C>T	ENSP00000273221:p.Arg634His						p.R634H	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			6	2117	-			634			SEC7.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.1901G>A	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063487	0.93898	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.57907	0.37;0.37	4.59	4.59	0.56863	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	.	.	.	0.80722	D	1	P;D;P	0.89917	0.9;1.0;0.951	P;D;P	0.97110	0.765;1.0;0.818	T	0.78028	-0.2364	9	0.62326	D	0.03	.	17.3729	0.87383	0.0:1.0:0.0:0.0	.	620;620;634	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	634;620;620	ENSP00000273221:R634H;ENSP00000402299:R620H	ENSP00000273221:R634H	R	-	2	0	IQSEC1	12937091	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.721000	0.84768	2.104000	0.64026	0.561000	0.74099	CGC		0.632	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		75	381	0	0	0	1	0	75	381					T	12962091	C	T	12962091	3	4	79	1	0	0	0	0	1	0	0	0	7847	768	27	1	1571	1	IQSEC1	3	12962091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4962	12962091	185060339	3794	14111											
IQSEC1	9922	broad.mit.edu	37	chr3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatggagctgcgcaagcGctcgaagttcttgttcatct	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	156	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(466-468)Cgc>Tgc		IQ motif and Sec7 domain 1							39	32	34					3																	12978092		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12978092G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.466C>T	3.37:g.12978092G>A	ENSP00000273221:p.Arg156Cys					IQSEC1_ENST00000473088.1_5'UTR	p.R156C	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	682	-			156			IQ.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.466C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094182|4.094182	0.76870|0.76870	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.63417	.|-0.04;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80497|0.80497	0.4634|0.4634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	D|D	0.83975|0.83975	0.0329|0.0329	4|9	.|0.87932	.|D	.|0	.|.	17.558|17.558	0.87898|0.87898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;156	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	156|156;142;142	.|ENSP00000273221:R156C;ENSP00000402299:R142C	.|ENSP00000273221:R156C	A|R	-|-	2|1	0|0	IQSEC1|IQSEC1	12953092|12953092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.317000|6.317000	0.72862|0.72862	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.577	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		23	134	0	0	0	1	0	23	134					A	12978092	G	A	12978092	3	1	79	1	0	0	0	0	1	0	0	0	7847	1087	38	1	3018	1	IQSEC1	3	12978092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	12978092	185044338	3795	14112											
NUP210	23225	broad.mit.edu	37	chr3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaaggtcagggtagtgGacagaggcccttggctgcca	17	8	1	2	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1763					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5287-5289)tCc>tTc		nucleoporin 210kDa							76	70	72					3																	13361358		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13361358G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5288C>T	3.37:g.13361358G>A	ENSP00000254508:p.Ser1763Phe						p.S1763F	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			37	5370	-	all_neural(104;0.187)		1763					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5288C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.66	4.79	0.61399	.	0.064020	0.64402	D	0.000005	T	0.11153	0.0272	M	0.72118	2.19	0.53005	D	0.999968	P	0.35656	0.514	B	0.34590	0.186	T	0.01786	-1.1274	10	0.66056	D	0.02	-31.8634	14.5805	0.68284	0.0699:0.0:0.9301:0.0	.	1763	Q8TEM1	PO210_HUMAN	F	1763	ENSP00000254508:S1763F	ENSP00000254508:S1763F	S	-	2	0	NUP210	13336358	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	8.986000	0.93492	1.400000	0.46741	-0.136000	0.14681	TCC		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		58	302	0	0	0	1	0	58	302					A	13361358	G	A	13361358	3	1	79	1	0	0	0	0	1	0	0	0	10802	1174	41	2	391	2	NUP210	3	13361358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383266	13361358	184661072	3796	14113											
NUP210	23225	broad.mit.edu	37	chr3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatgaccaccttgccggtCtctgcatccactgcctgcac	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3442-3444)gaG>gaT		nucleoporin 210kDa							107	102	104					3																	13381381		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381381C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3444G>T	3.37:g.13381381C>A	ENSP00000254508:p.Glu1148Asp					NUP210_ENST00000485755.1_5'UTR	p.E1148D	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			25	3526	-	all_neural(104;0.187)		1148					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3444G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140653	0.21205	.	.	ENSG00000132182	ENST00000254508	T	0.43688	0.94	5.19	3.38	0.38709	Bacterial Ig-like, group 2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28740	0.885	0.50313	D	0.999862	D	0.69078	0.997	D	0.66497	0.944	T	0.35699	-0.9778	10	0.11794	T	0.64	-27.8704	5.6999	0.17877	0.0:0.6331:0.1434:0.2235	.	1148	Q8TEM1	PO210_HUMAN	D	1148	ENSP00000254508:E1148D	ENSP00000254508:E1148D	E	-	3	2	NUP210	13356381	1.000000	0.71417	0.880000	0.34516	0.450000	0.32258	0.943000	0.29030	0.574000	0.29417	0.655000	0.94253	GAG		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		190	602	1	0	1.35662e-99	1	1.74458e-99	190	602					A	13381381	C	A	13381381	3	1	79	1	0	0	0	0	1	0	0	0	10802	912	32	3	2283	3	NUP210	3	13381381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20023	13381381	184641049	3797	14114											
NUP210	23225	broad.mit.edu	37	chr3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggtgatttcatacaggCggccggtctccagcacccac	11	14	2	1	rs555632447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	364					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		15670	0.0		0.0	False		,,,				2504	0.0031					ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1090-1092)cGc>cAc		nucleoporin 210kDa							136	134	135					3																	13419017		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13419017C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1091G>A	3.37:g.13419017C>T	ENSP00000254508:p.Arg364His						p.R364H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			9	1173	-	all_neural(104;0.187)		364					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1091G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804583	0.31869	.	.	ENSG00000132182	ENST00000254508	T	0.05649	3.41	4.93	4.04	0.47022	.	0.111045	0.64402	N	0.000013	T	0.08179	0.0204	M	0.62016	1.91	0.51482	D	0.999925	B;B	0.32128	0.131;0.357	B;B	0.23716	0.042;0.048	T	0.08994	-1.0695	10	0.51188	T	0.08	.	12.0113	0.53289	0.0:0.9134:0.0:0.0866	.	364;364	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	364	ENSP00000254508:R364H	ENSP00000254508:R364H	R	-	2	0	NUP210	13394017	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	5.529000	0.67135	1.040000	0.40099	0.591000	0.81541	CGC		0.567	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		136	741	0	0	0	1	0	136	741					T	13419017	C	T	13419017	3	4	79	1	0	0	0	0	1	0	0	0	10802	768	27	1	4700	1	NUP210	3	13419017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37636	13419017	184603413	3798	14115											
FBLN2	2199	broad.mit.edu	37	chr3	13660486	13660486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctaacaccatcccGctgccactgccgcagcccaa	8	19	1	0	rs545435806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000295760.7	+	7	2091	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000404922.3_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	674					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622													G|||	25	0.00499201	0.0	0.0	5008	,	,		17157	0.0		0.0	False		,,,				2504	0.0256					ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2020-2022)ccG>ccA		fibulin 2							25	30	28					3																	13660486		1957	4157	6114	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13660486G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2022G>A	3.37:g.13660486G>A						FBLN2_ENST00000535798.1_Silent_p.P700P|FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000295760.7_Silent_p.P674P	p.P674P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		7	2141	+			674					B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.2022G>A	CCDS46762.1																																																																																				0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		15	75	0	0	0	1	0	15	75					A	13660486	G	A	13660486	2	1	79	1	0	0	0	0	0	0	0	1	5724	1074	38	1		1	FBLN2	3	13660486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241469	13660486	184361944	3799	14116											
FBLN2	2199	broad.mit.edu	37	chr3	13672837	13672837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctctgacagacatcgacGagtgtgctcaaggcgccggc	12	13	3	2	rs367781349		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13672837G>A	ENST00000295760.7	+	15	3022	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E1032K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	985	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACATCGACGAGTGTGCTCA	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3094-3096)Gag>Aag		fibulin 2		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4276		0,0,2138	29	33	32		3094,3094,2953	5.4	1	3		32	1,8485		0,1,4242	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	56,56,56	0,1,6380	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging	1032/1232,1032/1232,985/1185	13672837	1,12761	2138	4243	6381	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672837G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2953G>A	3.37:g.13672837G>A	ENSP00000295760:p.Glu985Lys					FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E985K	p.E1032K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3213	+			1028			EGF-like 10; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3094G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333528	0.81801	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.96565	0.9418	10	0.87932	D	0	.	19.1574	0.93517	0.0:0.0:1.0:0.0	.	985;1032;1011	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	1011;1032;985;1032	ENSP00000445705:E1011K;ENSP00000384169:E1032K;ENSP00000295760:E985K;ENSP00000420042:E1032K	ENSP00000295760:E985K	E	+	1	0	FBLN2	13647838	1.000000	0.71417	0.990000	0.47175	0.103000	0.19146	9.782000	0.99034	2.525000	0.85131	0.655000	0.94253	GAG		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		4	58	0	0	0	1	0	4	58					A	13672837	G	A	13672837	3	1	79	1	0	0	0	0	1	0	0	0	5724	1059	37	1	1842	1	FBLN2	3	13672837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12351	13672837	184349593	3800	14117											
CHCHD4	131474	broad.mit.edu	37	chr3	14154654	14154654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccattcccccaaggcaTgggcagttccagttaatgtt	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000396914.3	-	3	343	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CHCHD4_ENST00000295767.5_Silent_p.P67P	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	54					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463																																						ENST00000295767.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(199-201)ccA>ccG		coiled-coil-helix-coiled-coil-helix domain containing 4							74	75	75					3																	14154654		2203	4300	6503	SO:0001819	synonymous_variant	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154654T>C	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.162A>G	3.37:g.14154654T>C						CHCHD4_ENST00000396914.3_Silent_p.P54P	p.P67P	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			4	525	-			54			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	ENST00000396914.3	37	c.201A>G	CCDS43054.1																																																																																				0.463	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		64	292	0	0	0	1	0	64	292					C	14154654	T	C	14154654	2	2	79	1	0	0	0	0	0	0	0	1	3327	1451	51	4		4	CHCHD4	3	14154654	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	481817	14154654	183867776	3801	14118											
XPC	7508	broad.mit.edu	37	chr3	14187592	14187592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccgcttctgcttgagagCtggtcccctcctcttcatca	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14187592C>A	ENST00000285021.7	-	16	2886	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron|AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	891	Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTGAGAGCTGGTCCCCTC	0.577			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2671-2673)aGc>aTc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							41	44	43					3																	14187592		1967	4164	6131	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14187592C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2672G>T	3.37:g.14187592C>A	ENSP00000285021:p.Ser891Ile					RP11-434D12.1_ENST00000601399.1_RNA|AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I	p.S891I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			16	2886	-			891			Interaction with ERCC2 and GTF2H1.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2672G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537048	0.85812	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.37058	1.22;1.25	5.7	5.7	0.88788	.	0.155128	0.64402	D	0.000020	T	0.52008	0.1708	M	0.68317	2.08	0.50313	D	0.999861	D;D	0.69078	0.995;0.997	P;P	0.59221	0.798;0.854	T	0.46992	-0.9151	10	0.38643	T	0.18	-26.1526	13.0849	0.59135	0.0:0.9269:0.0:0.0731	.	854;891	E9PH69;Q01831	.;XPC_HUMAN	I	891;854	ENSP00000285021:S891I;ENSP00000404002:S854I	ENSP00000285021:S891I	S	-	2	0	XPC	14162593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.883000	0.39658	2.684000	0.91462	0.585000	0.79938	AGC		0.577	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		35	144	1	0	3.11337e-16	1	3.41587e-16	35	144					A	14187592	C	A	14187592	3	1	79	1	0	0	0	0	1	0	0	0	17495	797	28	3	154	3	XPC	3	14187592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32938	14187592	183834838	3802	14119											
XPC	7508	broad.mit.edu	37	chr3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggacacagccaataGgcatcatgctgggcaggaag	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.P731H|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	768	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCCAATAGGCATCATGCT	0.582			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2302-2304)cCt>cAt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							79	84	82					3																	14190179		2112	4222	6334	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14190179G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2303C>A	3.37:g.14190179G>T	ENSP00000285021:p.Pro768His					XPC_ENST00000449060.2_Missense_Mutation_p.P731H	p.P768H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			13	2517	-			768			DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2303C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056570	0.93793	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	D;D	0.91577	-2.87;-2.61	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97465	1.0037	10	0.87932	D	0	-19.3044	20.0207	0.97499	0.0:0.0:1.0:0.0	.	731;768	E9PH69;Q01831	.;XPC_HUMAN	H	768;731	ENSP00000285021:P768H;ENSP00000404002:P731H	ENSP00000285021:P768H	P	-	2	0	XPC	14165180	1.000000	0.71417	0.965000	0.40720	0.915000	0.54546	9.607000	0.98328	2.739000	0.93911	0.563000	0.77884	CCT		0.582	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		18	191	1	0	8.00594e-06	1	8.21907e-06	18	191					T	14190179	G	T	14190179	3	4	79	1	0	0	0	0	1	0	0	0	17495	1000	35	3	535	3	XPC	3	14190179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2587	14190179	183832251	3803	14120											
XPC	7508	broad.mit.edu	37	chr3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacattcccaaactcgttcCggggcacctgtgtcgggtga	11	13	0	1	rs377360172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.R716L|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	753	Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACTCGTTCCGGGGCACCTG	0.602			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2257-2259)cGg>cTg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							64	73	70					3																	14190224		2111	4218	6329	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14190224C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2258G>T	3.37:g.14190224C>A	ENSP00000285021:p.Arg753Leu					XPC_ENST00000449060.2_Missense_Mutation_p.R716L	p.R753L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			13	2472	-			753			Minimal sensor domain involved in damage recognition.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2258G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904535	0.92035	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.41400	1.0;1.04	5.65	5.65	0.86999	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-25.7765	19.7205	0.96142	0.0:1.0:0.0:0.0	.	716;753	E9PH69;Q01831	.;XPC_HUMAN	L	753;716	ENSP00000285021:R753L;ENSP00000404002:R716L	ENSP00000285021:R753L	R	-	2	0	XPC	14165225	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	7.617000	0.83032	2.671000	0.90904	0.462000	0.41574	CGG		0.602	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		32	155	1	0	5.04308e-16	1	5.52873e-16	32	155					A	14190224	C	A	14190224	3	1	79	1	0	0	0	0	1	0	0	0	17495	652	23	3	580	3	XPC	3	14190224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	14190224	183832206	3804	14121											
XPC	7508	broad.mit.edu	37	chr3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcgatagaagccatttgCtagcaggcagagaaggtgaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	215					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCATTTGCTAGCAGGCAG	0.527			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(643-645)Gca>Tca	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55	54	54					3																	14207064		1991	4176	6167	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14207064C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.643G>T	3.37:g.14207064C>A	ENSP00000285021:p.Ala215Ser					XPC_ENST00000449060.2_Missense_Mutation_p.A178S	p.A215S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			6	857	-			215					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.643G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164672	0.78339	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65178	-0.14;-0.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.73598	2.24	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56042	0.73;0.79	T	0.76130	-0.3072	10	0.45353	T	0.12	-17.5158	19.5002	0.95091	0.0:1.0:0.0:0.0	.	178;215	E9PH69;Q01831	.;XPC_HUMAN	S	215;178	ENSP00000285021:A215S;ENSP00000404002:A178S	ENSP00000285021:A215S	A	-	1	0	XPC	14182068	1.000000	0.71417	0.895000	0.35142	0.123000	0.20343	6.688000	0.74557	2.604000	0.88044	0.563000	0.77884	GCA		0.527	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		21	76	1	0	5.49717e-05	1	5.60444e-05	21	76					A	14207064	C	A	14207064	3	1	79	1	0	0	0	0	1	0	0	0	17495	797	28	3	1172	3	XPC	3	14207064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16840	14207064	183815366	3805	14122											
XPC	7508	broad.mit.edu	37	chr3	14209881	14209881	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcacaggctcactaagttCtatcaacaagcatttttaaa	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	ENST00000285021.7	-	4	627		c.e4-1		XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACTAAGTTCTATCAACAAG	0.423			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55	54	55					3																	14209881		1888	4129	6017	SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14209881C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.413-1G>A	3.37:g.14209881C>T						XPC_ENST00000449060.2_Intron		NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			4	627	-								B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	SNP	ENST00000285021.7	37		CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536607	0.27475	.	.	ENSG00000154767	ENST00000285021;ENST00000511155	.	.	.	5.46	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0672	0.64837	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	XPC	14184885	1.000000	0.71417	0.938000	0.37757	0.167000	0.22549	5.845000	0.69437	1.304000	0.44892	0.591000	0.81541	.		0.423	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	Intron	8	198	0	0	0	1	0	8	198					T	14209881	C	T	14209881	5	4	79	1	0	0	0	0	0	0	1	0	17495	927	32	2	1411	2	XPC	3	14209881	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2817	14209881	183812549	3806	14123											
SLC6A6	6533	broad.mit.edu	37	chr3	14489097	14489097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacctgcaggtatcggCtatgcctccgttgtaattgt	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	124					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(370-372)ggC>ggA		solute carrier family 6 (neurotransmitter transporter), member 6							386	371	376					3																	14489097		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489097C>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.372C>A	3.37:g.14489097C>A						SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G	p.G124G			P31641	SC6A6_HUMAN			5	701	+			124					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.372C>A	CCDS33705.1																																																																																				0.542	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		461	1900	1	0	2.83946e-81	1	3.63311e-81	461	1900					A	14489097	C	A	14489097	2	1	79	1	0	0	0	0	0	0	0	1	14738	784	28	3		3	SLC6A6	3	14489097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279216	14489097	183533333	3807	14124											
SLC6A6	6533	broad.mit.edu	37	chr3	14489241	14489241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacacacctcactgcatGgaggacaccatgcgcaagaa	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	ENST00000454876.2	+	5	845	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	172					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCACTGCATGGAGGACACCA	0.562																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(514-516)atG>atA		solute carrier family 6 (neurotransmitter transporter), member 6							239	183	202					3																	14489241		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489241G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.516G>A	3.37:g.14489241G>A	ENSP00000398063:p.Met172Ile					SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I	p.M172I			P31641	SC6A6_HUMAN			5	845	+			172					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.516G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408703	0.42715	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.73681	-0.77;-0.77;-0.77	4.89	4.89	0.63831	.	0.422227	0.27518	N	0.019004	T	0.44201	0.1282	N	0.00327	-1.64	0.46396	D	0.999026	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.35671	T	0.21	.	18.0716	0.89408	0.0:0.0:1.0:0.0	.	172	P31641	SC6A6_HUMAN	I	172	ENSP00000398063:M172I;ENSP00000354107:M172I;ENSP00000401167:M172I	ENSP00000354107:M172I	M	+	3	0	SLC6A6	14464245	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.810000	0.55613	2.268000	0.75426	0.404000	0.27445	ATG		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		28	753	0	0	0	1	0	28	753					A	14489241	G	A	14489241	3	1	79	1	0	0	0	0	1	0	0	0	14738	1348	47	2	526	2	SLC6A6	3	14489241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	14489241	183533189	3808	14125											
SLC6A6	6533	broad.mit.edu	37	chr3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttacccatccttcctaaGgaagggttatcgtcgggaaa	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	423					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1267-1269)aGg>aTg		solute carrier family 6 (neurotransmitter transporter), member 6							197	161	173					3																	14518771		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518771G>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1268G>T	3.37:g.14518771G>T	ENSP00000398063:p.Arg423Met					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M	p.R423M			P31641	SC6A6_HUMAN			11	1597	+			423					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1268G>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325558	0.81580	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76060	-0.99;-0.99	4.73	4.73	0.59995	.	0.132495	0.64402	D	0.000002	D	0.87313	0.6146	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89565	0.3809	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	423	P31641	SC6A6_HUMAN	M	423	ENSP00000398063:R423M;ENSP00000354107:R423M	ENSP00000354107:R423M	R	+	2	0	SLC6A6	14493775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.325000	0.78763	0.491000	0.48974	AGG		0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		93	379	1	0	2.18907e-53	1	2.72816e-53	93	379					T	14518771	G	T	14518771	3	4	79	1	0	0	0	0	1	0	0	0	14738	1000	35	3	1306	3	SLC6A6	3	14518771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29530	14518771	183503659	3809	14126											
SLC6A6	6533	broad.mit.edu	37	chr3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaggaagggttatcgtcGggaaatcttcatcgccttcg	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1282-1284)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 6							183	151	162					3																	14518786		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518786G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1283G>A	3.37:g.14518786G>A	ENSP00000398063:p.Arg428Gln					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q	p.R428Q			P31641	SC6A6_HUMAN			11	1612	+			428					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1283G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526231	0.96431	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81821	-1.54;-1.54	4.73	4.73	0.59995	.	0.110564	0.64402	D	0.000008	D	0.90442	0.7007	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.92445	0.5965	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	428	P31641	SC6A6_HUMAN	Q	428	ENSP00000398063:R428Q;ENSP00000354107:R428Q	ENSP00000354107:R428Q	R	+	2	0	SLC6A6	14493790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.779000	0.99018	2.325000	0.78763	0.491000	0.48974	CGG		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		94	346	0	0	0	1	0	94	346					A	14518786	G	A	14518786	3	1	79	1	0	0	0	0	1	0	0	0	14738	1116	39	1	1321	1	SLC6A6	3	14518786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	14518786	183503644	3810	14127											
SLC6A6	6533	broad.mit.edu	37	chr3	14518805	14518805	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaatcttcatcgccttCgtgtgtagcatcagctacct	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	434					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1300-1302)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 6							161	132	142					3																	14518805		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518805C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1302C>T	3.37:g.14518805C>T						SLC6A6_ENST00000360861.3_Silent_p.F434F	p.F434F			P31641	SC6A6_HUMAN			11	1631	+			434					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.1302C>T	CCDS33705.1																																																																																				0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		97	367	0	0	0	1	0	97	367					T	14518805	C	T	14518805	2	4	79	1	0	0	0	0	0	0	0	1	14738	883	31	1		1	SLC6A6	3	14518805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	14518805	183503625	3811	14128											
GRIP2	80852	broad.mit.edu	37	chr3	14547207	14547207	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatagctcgtcctccggGgctcggtgggtggggggctg	21	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	ENST00000273083.3	-	0	2553							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTCCTCCGGGGCTCGGTGGG	0.682																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							19	22	21					3																	14547207		1949	4108	6057			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14547207G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547207G>A										Q9C0E4	GRIP2_HUMAN			0	2553	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.682	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	47	0	0	0	1	0	12	47					A	14547207	G	A	14547207	1	1	79	0	1	0	0	0	0	0	0	0	6818	1232	43	2		2	GRIP2	3	14547207	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28402	14547207	183475223	3812	14129											
GRIP2	80852	broad.mit.edu	37	chr3	14548392	14548392	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacagccggcgagaagCgggctgctggcaggcctcct	17	13	0	1	rs374577398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2		C	HIS/ARG	0,4036		0,0,2018	17	22	20		2605	2.7	0.1	3		20	1,8333		0,1,4166	no	missense	GRIP2	NM_001080423.2	29	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	benign	869/1141	14548392	1,12369	2018	4167	6185			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14548392C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548392C>T										Q9C0E4	GRIP2_HUMAN			0	2379	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.657	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		15	64	0	0	0	1	0	15	64					T	14548392	C	T	14548392	1	4	79	0	1	0	0	0	0	0	0	0	6818	768	27	1		1	GRIP2	3	14548392	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185	14548392	183474038	3813	14130											
GRIP2	80852	broad.mit.edu	37	chr3	14566999	14566999	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggctttccatccttgtCggtgccacctgagatagtca	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	ENST00000273083.3	-	0	267							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCCTTGTCGGTGCCACCT	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							70	73	72					3																	14566999		1990	4172	6162			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14566999C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14566999C>T										Q9C0E4	GRIP2_HUMAN			0	267	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		33	298	0	0	0	1	0	33	298					T	14566999	C	T	14566999	1	4	79	0	1	0	0	0	0	0	0	0	6818	884	31	1		1	GRIP2	3	14566999	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18607	14566999	183455431	3814	14131											
C3orf19	51244	broad.mit.edu	37	chr3	14703105	14703105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagacaagcgcaaagaaatgGaggcatctggtgcccataga	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14703105G>A	ENST00000383794.3	+	5	449	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CCDC174_ENST00000303688.7_Missense_Mutation_p.E126K	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAAGAAATGGAGGCATCTGG	0.458																																						ENST00000383794.3																			0											c.(376-378)Gag>Aag		coiled-coil domain containing 174							127	121	123					3																	14703105		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14703105G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.376G>A	3.37:g.14703105G>A	ENSP00000373304:p.Glu126Lys					CCDC174_ENST00000303688.7_Missense_Mutation_p.E126K	p.E126K	NM_016474.4	NP_057558.3					5	449	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.376G>A	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509475	0.64522	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.48836	0.8;0.86	5.65	1.65	0.23941	.	0.506471	0.22097	N	0.064676	T	0.24699	0.0599	N	0.20986	0.625	0.09310	N	0.999999	B	0.25441	0.126	B	0.18263	0.021	T	0.11397	-1.0589	10	0.13853	T	0.58	-19.5421	5.0934	0.14720	0.0857:0.4464:0.346:0.1219	.	126	Q6PII3	CC019_HUMAN	K	126;126;31	ENSP00000373304:E126K;ENSP00000302344:E126K	ENSP00000285042:E31K	E	+	1	0	C3orf19	14678109	0.946000	0.32159	0.157000	0.22605	0.936000	0.57629	2.108000	0.41854	0.717000	0.32145	0.467000	0.42956	GAG		0.458	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		25	622	0	0	0	1	0	25	622					A	14703105	G	A	14703105	3	1	79	1	0	0	0	0	1	0	0	0	2219	1175	41	2	394	2	C3orf19	3	14703105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136106	14703105	183319325	3815	14132											
C3orf20	84077	broad.mit.edu	37	chr3	14798938	14798938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccctcagactgcccGctggtgctgcggaagctcat	12	15	2	1	rs375154586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1999-2001)ccG>ccA		chromosome 3 open reading frame 20							44	44	44					3																	14798938		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14798938G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2001G>A	3.37:g.14798938G>A						C3orf20_ENST00000412910.1_Silent_p.P545P|C3orf20_ENST00000435614.1_Silent_p.P545P	p.P667P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			13	2453	+			667					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.2001G>A	CCDS33706.1																																																																																				0.672	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		69	245	0	0	0	1	0	69	245					A	14798938	G	A	14798938	2	1	79	1	0	0	0	0	0	0	0	1	2220	1074	38	1		1	C3orf20	3	14798938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95833	14798938	183223492	3816	14133											
FGD5	152273	broad.mit.edu	37	chr3	14862336	14862336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaatctctctctgtcGtgtgtaattggctcctctgg	11	10	3	0	rs201965283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1756-1758)tcG>tcA		FYVE, RhoGEF and PH domain containing 5							47	49	48					3																	14862336		1976	4155	6131	SO:0001819	synonymous_variant	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.chr3:14862336G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1758G>A	3.37:g.14862336G>A						FGD5_ENST00000543601.1_Silent_p.S345S	p.S586S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1868	+			586					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1758G>A	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		70	264	0	0	0	1	0	70	264					A	14862336	G	A	14862336	2	1	79	1	0	0	0	0	0	0	0	1	5861	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63398	14862336	183160094	3817	14134											
NR2C2	7182	broad.mit.edu	37	chr3	15070094	15070094	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtattttttgtttaataggCtgaaacaagccagggagctc	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000406272.2_Splice_Site_p.A267D|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	267					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e8-1		nuclear receptor subfamily 2, group C, member 2							65	60	62					3																	15070094		2203	4300	6503	SO:0001630	splice_region_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15070094C>A	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.799-1C>A	3.37:g.15070094C>A						NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286_splice|NR2C2_ENST00000406272.2_Splice_Site_p.A267_splice|NR2C2_ENST00000393102.3_Splice_Site_p.A267_splice	p.A267_splice			P49116	NR2C2_HUMAN			8	1162	+			267					A8K3H5|B6ZGT8|P55092	Splice_Site	SNP	ENST00000425241.1	37	c.798_splice		.	.	.	.	.	.	.	.	.	.	C	15.27	2.783963	0.49891	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.095622	0.85682	D	0.000000	D	0.89663	0.6780	L	0.27053	0.805	0.37836	D	0.928884	B;P	0.40476	0.004;0.718	B;B	0.39299	0.005;0.296	D	0.89087	0.3480	10	0.28530	T	0.3	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	267;286	P49116;F2YGU2	NR2C2_HUMAN;.	D	267;286;267;267	ENSP00000388387:A267D;ENSP00000320447:A286D;ENSP00000376814:A267D;ENSP00000384463:A267D	ENSP00000320447:A286D	A	+	2	0	NR2C2	15045098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.746000	0.94184	0.591000	0.81541	GCT		0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	Missense_Mutation	8	108	1	0	7.48243e-07	1	7.73841e-07	8	108					A	15070094	C	A	15070094	5	1	79	1	0	0	0	0	0	0	1	0	10665	811	28	3	887	3	NR2C2	3	15070094	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207758	15070094	182952336	3818	14135											
ZFYVE20	64145	broad.mit.edu	37	chr3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacccaggatggctttacctGcacaaaaagtgtagctgagt	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000449964.2_5'Flank|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	367	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1099-1101)Cag>Aag		zinc finger, FYVE domain containing 20							160	149	152					3																	15118571		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15118571G>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1099C>A	3.37:g.15118571G>T	ENSP00000253699:p.Gln367Lys					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			12	1712	-			367			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1099C>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733087	0.69189	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.36672	1.1	0.80722	D	1	P	0.44044	0.825	P	0.45856	0.495	T	0.48490	-0.9031	10	0.41790	T	0.15	-27.1303	20.2704	0.98474	0.0:0.0:1.0:0.0	.	367	Q9H1K0	RBNS5_HUMAN	K	367;367;69	ENSP00000253699:Q367K;ENSP00000422551:Q367K	ENSP00000253699:Q367K	Q	-	1	0	ZFYVE20	15093575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.617000	0.98361	2.793000	0.96121	0.591000	0.81541	CAG		0.478	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		60	264	1	0	1.69475e-38	1	2.04315e-38	60	264					T	15118571	G	T	15118571	3	4	79	1	0	0	0	0	1	0	0	0	17719	1328	46	3	1267	3	ZFYVE20	3	15118571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48477	15118571	182903859	3819	14136											
ZFYVE20	64145	broad.mit.edu	37	chr3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttattgacttccacaAcatagtggtcaattctagca	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	118	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(352-354)gTt>gCt		zinc finger, FYVE domain containing 20							178	195	189					3																	15127405		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15127405A>G	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.353T>C	3.37:g.15127405A>G	ENSP00000253699:p.Val118Ala					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A	p.V118A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			6	966	-			118			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.353T>C	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411677	0.62399	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.70516	0.79;0.79;-0.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	N	0.17901	0.54	0.80722	D	1	D;P	0.76494	0.999;0.911	D;P	0.76071	0.987;0.532	T	0.70117	-0.4960	10	0.20046	T	0.44	-15.8092	16.2526	0.82494	1.0:0.0:0.0:0.0	.	118;118	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	118	ENSP00000253699:V118A;ENSP00000422551:V118A;ENSP00000391039:V118A	ENSP00000253699:V118A	V	-	2	0	ZFYVE20	15102409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.241000	0.73720	0.482000	0.46254	GTT		0.358	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		179	909	0	0	0	1	0	179	909					G	15127405	A	G	15127405	3	3	79	1	0	0	0	0	1	0	0	0	17719	43	2	4	2037	4	ZFYVE20	3	15127405	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8834	15127405	182895025	3820	14137											
METTL6	131965	broad.mit.edu	37	chr3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccttaacatattcaatggCtcttggagaaaaatcacagg	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000443029.1	-	3	583	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Intron|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|METTL6_ENST00000383789.5_Missense_Mutation_p.A115S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	115							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(343-345)Gcc>Tcc		methyltransferase like 6							111	102	105					3																	15466479		1878	4104	5982	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15466479C>A	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.343G>T	3.37:g.15466479C>A	ENSP00000407613:p.Ala115Ser					METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S	p.A115S			Q8TCB7	METL6_HUMAN			3	583	-			115					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.343G>T	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004692	0.74932	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	T;T;T	0.04758	3.56;3.56;3.56	5.74	5.74	0.90152	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05241	-1.0897	10	0.87932	D	0	-14.8173	19.5124	0.95148	0.0:1.0:0.0:0.0	.	115;115	Q8TCB7-2;Q8TCB7	.;METL6_HUMAN	S	115;22;115	ENSP00000373300:A115S;ENSP00000412006:A22S;ENSP00000373299:A115S	ENSP00000373299:A115S	A	-	1	0	METTL6	15441483	1.000000	0.71417	0.999000	0.59377	0.260000	0.26232	7.723000	0.84788	2.707000	0.92482	0.563000	0.77884	GCC		0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		95	391	1	0	1.76403e-45	1	2.16332e-45	95	391					A	15466479	C	A	15466479	3	1	79	1	0	0	0	0	1	0	0	0	9545	797	28	3	527	3	METTL6	3	15466479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339074	15466479	182555951	3821	14138											
BTD	686	broad.mit.edu	37	chr3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtggctgaccatcacgAggctgaatattatgtggctg	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000303498.5	+	2	270	c.161A>G	c.(160-162)gAg>gGg	p.E54G	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	54					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(100-102)gAg>gGg		biotinidase							134	124	127					3																	15677047		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677047A>G	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.161A>G	3.37:g.15677047A>G	ENSP00000306477:p.Glu54Gly					BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000303498.5_Missense_Mutation_p.E54G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G	p.E34G			P43251	BTD_HUMAN			2	459	+			54					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.101A>G	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043137	0.08196	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95980	-3.87;-2.55;-2.55;-2.56;-2.29;-2.53	3.24	-2.28	0.06826	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.973243	0.08477	N	0.940113	D	0.85221	0.5647	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.73272	-0.4035	10	0.49607	T	0.09	-6.354	0.1601	0.00102	0.3777:0.1765:0.2144:0.2313	.	56;56;54	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	G	34;56;54;56;34;34	ENSP00000397113:E34G;ENSP00000388212:E56G;ENSP00000306477:E54G;ENSP00000400995:E56G;ENSP00000394277:E34G;ENSP00000373288:E34G	ENSP00000306477:E54G	E	+	2	0	BTD	15652051	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.261000	0.18442	-0.453000	0.07076	0.454000	0.30748	GAG		0.567	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		127	537	0	0	0	1	0	127	537					G	15677047	A	G	15677047	3	3	79	1	0	0	0	0	1	0	0	0	1554	304	11	4	167	4	BTD	3	15677047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	210568	15677047	182345383	3822	14139											
BTD	686	broad.mit.edu	37	chr3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttactacatccaagTgtgtgccctggtcaggtgtg	12	10	1	0	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000303498.5	+	4	1479	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	BTD_ENST00000383778.4_Missense_Mutation_p.V437A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	457					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1309-1311)gTg>gCg		biotinidase		T	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	107	107	107		1370	2	0	3	dbSNP_134	107	0,8600		0,0,4300	no	missense	BTD	NM_000060.2	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	457/544	15686733	1,13005	2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686733T>C	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1370T>C	3.37:g.15686733T>C	ENSP00000306477:p.Val457Ala					BTD_ENST00000449107.1_Missense_Mutation_p.V459A|BTD_ENST00000303498.5_Missense_Mutation_p.V457A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A	p.V437A			P43251	BTD_HUMAN			4	1668	+			457					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.1310T>C	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	2.27E-4	0.0	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	1.98	0.26296	.	0.379003	0.29417	N	0.012208	T	0.75236	0.3822	N	0.12471	0.22	0.31840	N	0.623582	B;B;B	0.15719	0.014;0.014;0.008	B;B;B	0.16289	0.015;0.015;0.015	T	0.66921	-0.5801	10	0.26408	T	0.33	-13.3839	7.5132	0.27585	0.0:0.3816:0.0:0.6184	.	459;459;457	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	459;457;459;437	ENSP00000388212:V459A;ENSP00000306477:V457A;ENSP00000400995:V459A;ENSP00000373288:V437A	ENSP00000306477:V457A	V	+	2	0	BTD	15661737	0.856000	0.29760	0.015000	0.15790	0.532000	0.34746	1.300000	0.33436	0.420000	0.25954	0.459000	0.35465	GTG		0.517	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		105	424	0	0	0	1	0	105	424					C	15686733	T	C	15686733	3	2	79	1	0	0	0	0	1	0	0	0	1554	1696	59	4	1384	4	BTD	3	15686733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9686	15686733	182335697	3823	14140											
ANKRD28	23243	broad.mit.edu	37	chr3	15756164	15756164	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggttttcccatctttactCtggggggggaagaaaaaaat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e9-1		ankyrin repeat domain 28							56	60	59					3																	15756164		1812	4070	5882	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15756164C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-1G>A	3.37:g.15756164C>T						ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			9	1274	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629505	0.67015	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7519	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15731168	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.968000	0.70413	2.446000	0.82766	0.561000	0.74099	.		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	19	93	0	0	0	1	0	19	93					T	15756164	C	T	15756164	5	4	79	1	0	0	0	0	0	0	1	0	656	927	32	2	2335	2	ANKRD28	3	15756164	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69431	15756164	182266266	3824	14141											
GALNTL2	117248	broad.mit.edu	37	chr3	16254087	16254087	+	Missense_Mutation	SNP	T	T	G													tcgtggcaggcctggctctgTggtggctctgttgaaatcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254087T>G	ENST00000339732.5	+	6	1712	c.1209T>G	c.(1207-1209)tgT>tgG	p.C403W	GALNT15_ENST00000437509.1_Missense_Mutation_p.C403W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	403	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTGGCTCTGTGGTGGCTCTG	0.542																																						ENST00000339732.5																			0											c.(1207-1209)tgT>tgG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							67	55	59					3																	16254087		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16254087T>G	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1209T>G	3.37:g.16254087T>G	ENSP00000344260:p.Cys403Trp					GALNT15_ENST00000437509.1_Missense_Mutation_p.C403W	p.C403W	NM_054110.4	NP_473451.3					6	1712	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1209T>G	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703630	0.30232	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.67171	-0.25;-0.25	5.14	-1.84	0.07809	.	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	10	0.87932	D	0	.	13.1101	0.59268	0.0:0.3995:0.0:0.6005	.	403	Q8N3T1	GLTL2_HUMAN	W	403	ENSP00000344260:C403W;ENSP00000395873:C403W	ENSP00000344260:C403W	C	+	3	2	GALNTL2	16229091	0.947000	0.32204	0.776000	0.31678	0.225000	0.24961	-0.038000	0.12144	-1.032000	0.03304	-2.060000	0.00399	TGT		0.542	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		40	211	0	0	0	1	0	40	211					G	16254087	T	G	16254087	3	3	79	1	0	0	0	0	1	0	0	0	6250	1702	59	4	1231	4	GALNTL2	3	16254087	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	497923	16254087	181768343	3825	14142	86	2									
GALNTL2	117248	broad.mit.edu	37	chr3	16254093	16254093	+	Silent	SNP	C	C	T													caggcctggctctgtggtggCtctgttgaaatccttccctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254093C>T	ENST00000339732.5	+	6	1718	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G	GALNT15_ENST00000437509.1_Silent_p.G405G	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	405	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCTGTGGTGGCTCTGTTGAAA	0.547																																						ENST00000339732.5																			0											c.(1213-1215)ggC>ggT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							74	60	65					3																	16254093		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254093C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1215C>T	3.37:g.16254093C>T						GALNT15_ENST00000437509.1_Silent_p.G405G	p.G405G	NM_054110.4	NP_473451.3					6	1718	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1215C>T	CCDS33711.1																																																																																				0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		10	257	0	0	0	1	0	10	257					T	16254093	C	T	16254093	2	4	79	1	0	0	0	0	0	0	0	1	6250	784	28	2		2	GALNTL2	3	16254093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	16254093	181768337	3826	14143	86	2									
OXNAD1	92106	broad.mit.edu	37	chr3	16343174	16343174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgagagtgggtggagaGttcttctttgaccctcagcc	14	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000606098.1_Silent_p.E158E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000435829.2_Silent_p.E176E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	158	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483																																						ENST00000285083.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						c.(472-474)gaG>gaA		oxidoreductase NAD-binding domain containing 1							88	83	85					3																	16343174		2202	4300	6502	SO:0001819	synonymous_variant	92106						oxidoreductase activity	g.chr3:16343174G>A	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.474G>A	3.37:g.16343174G>A						OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000606098.1_Silent_p.E158E	p.E158E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN			7	939	+			158			FAD-binding FR-type.		Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	c.474G>A	CCDS2630.1																																																																																				0.483	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		29	142	0	0	0	1	0	29	142					A	16343174	G	A	16343174	2	1	79	1	0	0	0	0	0	0	0	1	11375	1020	36	2		2	OXNAD1	3	16343174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89081	16343174	181679256	3827	14144											
RFTN1	23180	broad.mit.edu	37	chr3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctctccggagggtgagCtgggctgcttggcgaggggc	18	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	238					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAGGGTGAGCTGGGCTGCTT	0.642																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(712-714)aGc>aAc		raftlin, lipid raft linker 1							53	56	55					3																	16419338		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16419338C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.713G>A	3.37:g.16419338C>T	ENSP00000334153:p.Ser238Asn					RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	p.S238N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			5	985	-			238					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.713G>A	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308571	0.40895	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49720	1.43;1.44;0.77	5.36	2.57	0.30868	.	2.132120	0.01784	N	0.031937	T	0.31136	0.0787	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.004;0.006	T	0.26467	-1.0102	10	0.02654	T	1	-1.0799	8.8139	0.34985	0.0:0.6756:0.0:0.3244	.	202;238	G3XAJ6;Q14699	.;RFTN1_HUMAN	N	202;238;238	ENSP00000403926:S202N;ENSP00000334153:S238N;ENSP00000403997:S238N	ENSP00000334153:S238N	S	-	2	0	RFTN1	16394342	0.000000	0.05858	0.015000	0.15790	0.471000	0.32888	-0.151000	0.10175	0.640000	0.30582	0.561000	0.74099	AGC		0.642	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		12	271	0	0	0	1	0	12	271					T	16419338	C	T	16419338	3	4	79	1	0	0	0	0	1	0	0	0	13308	797	28	2	1047	2	RFTN1	3	16419338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76164	16419338	181603092	3828	14145											
RFTN1	23180	broad.mit.edu	37	chr3	16450939	16450939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtctaaggaggaacaGcaatctaattccaagatgta	12	6	2	1	rs369536397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	128					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGAGGAACAGCAATCTAATT	0.423																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(382-384)tgC>tgT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	164	154	157		384	5.5	1	3		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFTN1	NM_015150.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/579	16450939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16450939G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.384C>T	3.37:g.16450939G>A						RFTN1_ENST00000432519.1_Silent_p.C92C	p.C128C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	656	-			128					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.384C>T	CCDS33712.1																																																																																				0.423	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		16	415	0	0	0	1	0	16	415					A	16450939	G	A	16450939	2	1	79	1	0	0	0	0	0	0	0	1	13308	963	34	2		2	RFTN1	3	16450939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31601	16450939	181571491	3829	14146											
RFTN1	23180	broad.mit.edu	37	chr3	16450991	16450991	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatcagttttctgagatCtgaagagaaagaaaagcaca	10	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1						B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCTGAGATCTGAAGAGAAA	0.438																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.e4-1		raftlin, lipid raft linker 1							100	95	97					3																	16450991		2203	4300	6503	SO:0001630	splice_region_variant	23180					plasma membrane		g.chr3:16450991C>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.333-1G>T	3.37:g.16450991C>A						RFTN1_ENST00000432519.1_Splice_Site		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	605	-								Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Splice_Site	SNP	ENST00000334133.4	37		CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488476	0.44249	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1773	0.72924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFTN1	16425995	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	4.084000	0.57650	2.656000	0.90262	0.655000	0.94253	.		0.438	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	Intron	53	222	1	0	1.21353e-23	1	1.38083e-23	53	222					A	16450991	C	A	16450991	5	1	79	1	0	0	0	0	0	0	1	0	13308	927	32	3	1432	3	RFTN1	3	16450991	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	16450991	181571439	3830	14147											
PLCL2	23228	broad.mit.edu	37	chr3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctcagatagttttccGcagtgtcattgatattatta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	497					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1111-1113)cGc>cAc		phospholipase C-like 2							106	97	100					3																	17052328		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052328G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1112G>A	3.37:g.17052328G>A	ENSP00000409637:p.Arg371His					PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H|PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron	p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1577	+			497					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1112G>A	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702685|2.702685	0.48307|0.48307	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.047783	.|0.85682	.|D	.|0.000000	T|T	0.60287|0.60287	0.2257|0.2257	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38455	.|0.632	.|B	.|0.34779	.|0.189	T|T	0.63629|0.63629	-0.6594|-0.6594	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|497	.|Q9UPR0	.|PLCL2_HUMAN	T|H	115|371;498;371;371	.|ENSP00000409637:R371H;ENSP00000379979:R371H;ENSP00000412836:R371H	.|ENSP00000285094:R498H	A|R	+|+	1|2	0|0	PLCL2|PLCL2	17027332|17027332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			70	321	0	0	0	1	0	70	321					A	17052328	G	A	17052328	3	1	79	1	0	0	0	0	1	0	0	0	12082	1087	38	1	1490	1	PLCL2	3	17052328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601337	17052328	180970102	3831	14148											
TBC1D5	9779	broad.mit.edu	37	chr3	17208310	17208310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggcctcggccctgGccctggccgctggagcagta	15	15	0	0	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000446818.2_Silent_p.G703G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	681						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTCGGCCCTGGCCCTGGCCGC	0.517																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(2041-2043)ggC>ggA		TBC1 domain family, member 5							95	86	89					3																	17208310		2203	4300	6503	SO:0001819	synonymous_variant	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17208310G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2043C>A	3.37:g.17208310G>T						TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.G681G	p.G681G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			21	3707	-			681					A6NP25|C9JP52	Silent	SNP	ENST00000253692.7	37	c.2043C>A	CCDS33714.1																																																																																				0.517	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		65	316	1	0	1.31726e-23	1	1.49873e-23	65	316					T	17208310	G	T	17208310	2	4	79	1	0	0	0	0	0	0	0	1	15675	1190	42	3		3	TBC1D5	3	17208310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155982	17208310	180814120	3832	14149											
TBC1D5	9779	broad.mit.edu	37	chr3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcagactcactggcatgtaGaaaagcttggtggtcacagt	12	8	2	2	rs541295334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	225	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGGCATGTAGAAAAGCTTGG	0.413																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(673-675)Cta>Ata		TBC1 domain family, member 5							94	100	98					3																	17418045		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17418045G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.673C>A	3.37:g.17418045G>T	ENSP00000253692:p.Leu225Ile					TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I	p.L225I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			10	2337	-			225			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.673C>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269862	0.40095	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44482	1.48;1.48;1.48;0.92	4.97	4.08	0.47627	Rab-GAP/TBC domain (4);	0.221938	0.39834	N	0.001255	T	0.36110	0.0955	L	0.29908	0.895	0.33777	D	0.62378	B;P;B	0.37688	0.038;0.605;0.237	B;P;B	0.48334	0.071;0.574;0.292	T	0.47674	-0.9099	10	0.37606	T	0.19	-11.6177	4.6907	0.12780	0.3169:0.0:0.6831:0.0	.	177;225;225	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	I	225;225;225;177	ENSP00000253692:L225I;ENSP00000398127:L225I;ENSP00000402935:L225I;ENSP00000411925:L177I	ENSP00000253692:L225I	L	-	1	2	TBC1D5	17393049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.804000	0.62554	2.319000	0.78375	0.585000	0.79938	CTA		0.413	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		65	346	1	0	4.79706e-38	1	5.77216e-38	65	346					T	17418045	G	T	17418045	3	4	79	1	0	0	0	0	1	0	0	0	15675	933	33	3	1836	3	TBC1D5	3	17418045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209735	17418045	180604385	3833	14150											
SATB1	6304	broad.mit.edu	37	chr3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctggtttcccattcctttCagtggcaatagtagctgttt	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000338745.6	-	9	3178	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	482					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1444-1446)Gaa>Taa		SATB homeobox 1							216	213	214					3																	18419793		2203	4300	6503	SO:0001587	stop_gained	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18419793C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1444G>T	3.37:g.18419793C>A	ENSP00000341024:p.Glu482*					SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	p.E482*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			9	3178	-			482					B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	ENST00000338745.6	37	c.1444G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	42	9.317731	0.99135	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9854	19.6513	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000341024:E482X	E	-	1	0	SATB1	18394797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.704000	0.92352	0.650000	0.86243	GAA		0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		174	774	1	0	2.88683e-70	1	3.66652e-70	174	774					A	18419793	C	A	18419793	4	1	79	1	0	0	0	0	0	1	0	0	13903	835	29	3	859	3	SATB1	3	18419793	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001748	18419793	179602637	3834	14151											
SATB1	6304	broad.mit.edu	37	chr3	18456684	18456684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcattcctcactgtggtGtgcgaccattgttcgggagg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000338745.6	-	5	2292	c.558C>T	c.(556-558)caC>caT	p.H186H	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	186	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACTGTGGTGTGCGACCATT	0.448																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(556-558)caC>caT		SATB homeobox 1							117	106	110					3																	18456684		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18456684G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.558C>T	3.37:g.18456684G>A						SATB1_ENST00000417717.2_Silent_p.H186H|SATB1_ENST00000454909.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.H186H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			5	2292	-			186			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.558C>T	CCDS2631.1																																																																																				0.448	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		27	332	0	0	0	1	0	27	332					A	18456684	G	A	18456684	2	1	79	1	0	0	0	0	0	0	0	1	13903	1368	48	2		2	SATB1	3	18456684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36891	18456684	179565746	3835	14152											
SATB1	6304	broad.mit.edu	37	chr3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacgtaagacagtggaaCtggattccactttccaacct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000338745.6	-	4	2152	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	140	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(418-420)Gtt>Ttt		SATB homeobox 1							105	96	99					3																	18457596		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18457596C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.418G>T	3.37:g.18457596C>A	ENSP00000341024:p.Val140Phe					SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.V140F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			4	2152	-			140			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.418G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713023	0.68730	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.47716	1.5	0.80722	D	1	D;P	0.65815	0.995;0.941	D;P	0.65233	0.933;0.632	D	0.85488	0.1183	10	0.72032	D	0.01	-7.4249	19.7401	0.96223	0.0:1.0:0.0:0.0	.	140;140	Q01826-2;Q01826	.;SATB1_HUMAN	F	140	ENSP00000341024:V140F;ENSP00000399708:V140F;ENSP00000399518:V140F;ENSP00000402982:V140F;ENSP00000406727:V140F;ENSP00000390529:V140F	ENSP00000341024:V140F	V	-	1	0	SATB1	18432600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.727000	0.93392	0.591000	0.81541	GTT		0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		76	310	1	0	1.14856e-27	1	1.3317e-27	76	310					A	18457596	C	A	18457596	3	1	79	1	0	0	0	0	1	0	0	0	13903	565	20	3	1905	3	SATB1	3	18457596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	18457596	179564834	3836	14153											
SATB1	6304	broad.mit.edu	37	chr3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctagcgggctcccgTtctgctccaggcgggcaatc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000338745.6	-	2	1841	c.107A>G	c.(106-108)aAc>aGc	p.N36S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	36					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(106-108)aAc>aGc		SATB homeobox 1							135	140	138					3																	18462353		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18462353T>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.107A>G	3.37:g.18462353T>C	ENSP00000341024:p.Asn36Ser					SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S	p.N36S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			2	1841	-			36					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.107A>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699728	0.88924	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.74	5.74	0.90152	.	0.044474	0.85682	D	0.000000	T	0.77532	0.4144	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.917	T	0.79708	-0.1690	10	0.87932	D	0	-19.257	16.0363	0.80631	0.0:0.0:0.0:1.0	.	36;36	Q01826-2;Q01826	.;SATB1_HUMAN	S	36	ENSP00000341024:N36S;ENSP00000399708:N36S;ENSP00000399518:N36S;ENSP00000402982:N36S;ENSP00000406727:N36S;ENSP00000390529:N36S;ENSP00000398072:N36S;ENSP00000408871:N36S;ENSP00000391344:N36S	ENSP00000341024:N36S	N	-	2	0	SATB1	18437357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAC		0.512	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		143	654	0	0	0	1	0	143	654					C	18462353	T	C	18462353	3	2	79	1	0	0	0	0	1	0	0	0	13903	1725	60	4	2224	4	SATB1	3	18462353	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	18462353	179560077	3837	14154											
KCNH8	131096	broad.mit.edu	37	chr3	19389273	19389273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtttctgatgcaaaaaaGtccaaattcatacttctgca	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K209K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - coding silent(1)	p.K209K(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(625-627)aaG>aaA		potassium voltage-gated channel, subfamily H (eag-related), member 8							147	136	140					3																	19389273		2203	4299	6502	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19389273G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.627G>A	3.37:g.19389273G>A						KCNH8_ENST00000475063.1_3'UTR	p.K209K	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			5	893	+			209					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.627G>A	CCDS2632.1																																																																																				0.373	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		136	498	0	0	0	1	0	136	498					A	19389273	G	A	19389273	2	1	79	1	0	0	0	0	0	0	0	1	8068	1020	36	2		2	KCNH8	3	19389273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	926920	19389273	178633157	3838	14155											
EFHB	151651	broad.mit.edu	37	chr3	19924048	19924048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatatgctatacctcttcTtttgatctggtcttgaagaa	6	8	4	3	rs199867500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	ENST00000295824.9	-	12	2483	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	774							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATACCTCTTCTTTTGATCTGG	0.299																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2320-2322)aaA>aaC		EF-hand domain family, member B							36	33	34					3																	19924048		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19924048T>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2322A>C	3.37:g.19924048T>G	ENSP00000295824:p.Lys774Asn					EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	p.K774N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			12	2483	-			774					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2322A>C	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914093	0.33815	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34275	3.05;1.37	5.55	-0.721	0.11189	.	0.109069	0.64402	D	0.000010	T	0.57519	0.2059	M	0.84683	2.71	0.34471	D	0.702805	D;D	0.89917	0.999;1.0	D;D	0.73708	0.981;0.973	T	0.67902	-0.5550	9	.	.	.	-23.6196	11.0307	0.47772	0.0:0.4452:0.0:0.5548	.	644;774	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	N	774;644	ENSP00000295824:K774N;ENSP00000342263:K644N	.	K	-	3	2	EFHB	19899052	0.911000	0.30947	0.488000	0.27440	0.080000	0.17528	-0.095000	0.11077	-0.056000	0.13221	-0.250000	0.11733	AAA		0.299	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		14	64	0	0	0	1	0	14	64					G	19924048	T	G	19924048	3	3	79	1	0	0	0	0	1	0	0	0	4961	1606	56	4	187	4	EFHB	3	19924048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	534775	19924048	178098382	3839	14156											
EFHB	151651	broad.mit.edu	37	chr3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatggctcctacaattGcattgatctcagaagaagtt	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000295824.9	-	11	2281	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	707							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2119-2121)gCa>gTa		EF-hand domain family, member B							99	95	96					3																	19925921		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19925921G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2120C>T	3.37:g.19925921G>A	ENSP00000295824:p.Ala707Val					EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	p.A707V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			11	2281	-			707					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2120C>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590323	0.86851	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34667	1.35;1.4	5.67	5.67	0.87782	.	0.075009	0.51477	D	0.000086	T	0.57562	0.2062	M	0.77103	2.36	0.40306	D	0.978667	P;D	0.59767	0.925;0.986	P;P	0.55455	0.691;0.776	T	0.59064	-0.7524	9	.	.	.	-13.2516	19.7874	0.96444	0.0:0.0:1.0:0.0	.	577;707	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	707;577	ENSP00000295824:A707V;ENSP00000342263:A577V	.	A	-	2	0	EFHB	19900925	0.945000	0.32115	0.019000	0.16419	0.093000	0.18481	5.062000	0.64326	2.685000	0.91497	0.650000	0.86243	GCA		0.403	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		46	146	0	0	0	1	0	46	146					A	19925921	G	A	19925921	3	1	79	1	0	0	0	0	1	0	0	0	4961	1319	46	2	393	2	EFHB	3	19925921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1873	19925921	178096509	3840	14157											
KAT2B	8850	broad.mit.edu	37	chr3	20167396	20167396	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctgtctcttgcatctcaGaccaattttctgtcagcaca	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGCATCTCAGACCAATTTTC	0.468																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.e10-1		K(lysine) acetyltransferase 2B							71	74	73					3																	20167396		2203	4300	6503	SO:0001630	splice_region_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20167396G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1414-1G>T	3.37:g.20167396G>T								NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			10	1868	+								Q6NSK1	Splice_Site	SNP	ENST00000263754.4	37		CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337915	0.60963	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6847	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT2B	20142400	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	.		0.468	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	Intron	61	381	1	0	1.11718e-16	1	1.22894e-16	61	381					T	20167396	G	T	20167396	5	4	79	1	0	0	0	0	0	0	1	0	8012	956	33	3	1451	3	KAT2B	3	20167396	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241475	20167396	177855034	3841	14158											
KAT2B	8850	broad.mit.edu	37	chr3	20169002	20169002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatctcaaggattcacagaGattgtcttctgtgctgtaac	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	570	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GATTCACAGAGATTGTCTTCT	0.428																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(1708-1710)gaG>gaA		K(lysine) acetyltransferase 2B							200	179	186					3																	20169002		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20169002G>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1710G>A	3.37:g.20169002G>A							p.E570E	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			11	2165	+			570			N-acetyltransferase.		Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.1710G>A	CCDS2634.1																																																																																				0.428	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		78	297	0	0	0	1	0	78	297					A	20169002	G	A	20169002	2	1	79	1	0	0	0	0	0	0	0	1	8012	933	33	2		2	KAT2B	3	20169002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1606	20169002	177853428	3842	14159											
ZNF385D	79750	broad.mit.edu	37	chr3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagctggccgcaggaGtgccggaggaagcgcggaag	19	10	0	0	rs373837350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	375						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1123-1125)Ctc>Ttc		zinc finger protein 385D							55	53	53					3																	21462771		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462771G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1123C>T	3.37:g.21462771G>A	ENSP00000281523:p.Leu375Phe						p.L375F	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1641	-			375						Missense_Mutation	SNP	ENST00000281523.2	37	c.1123C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741734	0.49151	.	.	ENSG00000151789	ENST00000281523	T	0.51574	0.7	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.42744	1.35	0.53005	D	0.999964	B	0.28636	0.218	B	0.23150	0.044	T	0.34403	-0.9830	10	0.59425	D	0.04	-29.8816	20.3747	0.98911	0.0:0.0:1.0:0.0	.	375	Q9H6B1	Z385D_HUMAN	F	375	ENSP00000281523:L375F	ENSP00000281523:L375F	L	-	1	0	ZNF385D	21437775	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	4.681000	0.61663	2.819000	0.97034	0.557000	0.71058	CTC		0.547	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		22	149	0	0	0	1	0	22	149					A	21462771	G	A	21462771	3	1	79	1	0	0	0	0	1	0	0	0	17931	1029	36	2	68	2	ZNF385D	3	21462771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1293769	21462771	176559659	3843	14160											
ZNF385D	79750	broad.mit.edu	37	chr3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgctgcagctgctagaGgatttggtagaattcgtgga	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	339						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						agctgctAGAGGATTTGGTAG	0.458																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1015-1017)cCt>cTt		zinc finger protein 385D							39	42	41					3																	21462878		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462878G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1016C>T	3.37:g.21462878G>A	ENSP00000281523:p.Pro339Leu						p.P339L	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1534	-			339						Missense_Mutation	SNP	ENST00000281523.2	37	c.1016C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232462	0.39498	.	.	ENSG00000151789	ENST00000281523	T	0.36340	1.26	6.08	6.08	0.98989	.	0.206063	0.46442	D	0.000292	T	0.37812	0.1017	L	0.45352	1.415	0.49130	D	0.999759	B	0.21225	0.053	B	0.16722	0.016	T	0.11275	-1.0594	10	0.87932	D	0	-23.679	20.6593	0.99626	0.0:0.0:1.0:0.0	.	339	Q9H6B1	Z385D_HUMAN	L	339	ENSP00000281523:P339L	ENSP00000281523:P339L	P	-	2	0	ZNF385D	21437882	0.998000	0.40836	0.243000	0.24186	0.238000	0.25445	2.679000	0.46909	2.887000	0.99086	0.650000	0.86243	CCT		0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		17	150	0	0	0	1	0	17	150					A	21462878	G	A	21462878	3	1	79	1	0	0	0	0	1	0	0	0	17931	1000	35	2	175	2	ZNF385D	3	21462878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	21462878	176559552	3844	14161											
ZNF385D	79750	broad.mit.edu	37	chr3	21467002	21467002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttaagttgcgtttcCgagttgacgtgcacatcaca	9	10	1	1	rs200280562		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21467002C>T	ENST00000281523.2	-	6	1352	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	278						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGCGTTTCCGAGTTGACGT	0.418																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(832-834)tcG>tcA		zinc finger protein 385D		C		0,4406		0,0,2203	219	193	202		834	-6.7	0.9	3		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF385D	NM_024697.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		278/396	21467002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21467002C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.834G>A	3.37:g.21467002C>T							p.S278S	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			6	1352	-			278						Silent	SNP	ENST00000281523.2	37	c.834G>A	CCDS2636.1																																																																																				0.418	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	528	0	0	0	1	0	10	528					T	21467002	C	T	21467002	2	4	79	1	0	0	0	0	0	0	0	1	17931	639	23	1		1	ZNF385D	3	21467002	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4124	21467002	176555428	3845	14162											
ZNF385D	79750	broad.mit.edu	37	chr3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgaggcagagttgacaGcaaccttgcatagcgaacag	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D	ZNF385D_ENST00000494118.1_5'Flank	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(634-636)gCt>gAt		zinc finger protein 385D							163	133	143					3																	21478500		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478500G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.635C>A	3.37:g.21478500G>T	ENSP00000281523:p.Ala212Asp						p.A212D	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1153	-			212						Missense_Mutation	SNP	ENST00000281523.2	37	c.635C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215996	0.95104	.	.	ENSG00000151789	ENST00000281523	T	0.21543	2.0	6.09	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24584	-1.0156	10	0.54805	T	0.06	-9.7885	17.5408	0.87846	0.0:0.1232:0.8768:0.0	.	212	Q9H6B1	Z385D_HUMAN	D	212	ENSP00000281523:A212D	ENSP00000281523:A212D	A	-	2	0	ZNF385D	21453504	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	GCT		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		73	411	1	0	5.68823e-23	1	6.45521e-23	73	411					T	21478500	G	T	21478500	3	4	79	1	0	0	0	0	1	0	0	0	17931	971	34	3	568	3	ZNF385D	3	21478500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11498	21478500	176543930	3846	14163											
UBE2E1	7324	broad.mit.edu	37	chr3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtggaccaagagatacGctacataaattggggtttca	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453																																						ENST00000306627.3																			0				breast(1)|endometrium(2)|large_intestine(4)	7						c.(574-576)Gct>Act		ubiquitin-conjugating enzyme E2E 1							98	88	91					3																	23932089		2203	4300	6503	SO:0001583	missense	7324				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr3:23932089G>A	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.574G>A	3.37:g.23932089G>A	ENSP00000303709:p.Ala192Thr					UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T|UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T	p.A192T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN			6	793	+			192					B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	37	c.574G>A	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707835	0.89018	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.86	5.0	0.66597	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	D	0.91506	0.7318	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.94761	0.7936	10	0.87932	D	0	.	15.0642	0.71980	0.0678:0.0:0.9321:0.0	.	192	P51965	UB2E1_HUMAN	T	192;175;159;150	ENSP00000303709:A192T;ENSP00000329113:A175T;ENSP00000411351:A159T;ENSP00000393088:A150T	ENSP00000303709:A192T	A	+	1	0	UBE2E1	23907093	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCT		0.453	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341		30	152	0	0	0	1	0	30	152					A	23932089	G	A	23932089	3	1	79	1	0	0	0	0	1	0	0	0	16906	1087	38	1	592	1	UBE2E1	3	23932089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2453589	23932089	174090341	3847	14164											
NR1D2	9975	broad.mit.edu	37	chr3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggtcgtattcctaagcGtgaaaaacagaggatgctaa	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	182	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATTCCTAAGCGTGAAAAACAG	0.338																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(544-546)cGt>cAt		nuclear receptor subfamily 1, group D, member 2							70	63	65					3																	24003495		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003495G>A	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.545G>A	3.37:g.24003495G>A	ENSP00000310006:p.Arg182His					NR1D2_ENST00000492552.1_3'UTR	p.R182H	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			5	864	+			182					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.545G>A	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277576	0.95459	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96396	-4.0	5.98	5.98	0.97165	Nuclear hormone receptor, ligand-binding (1);	0.104396	0.64402	D	0.000004	D	0.97939	0.9322	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	182	Q14995	NR1D2_HUMAN	H	182	ENSP00000310006:R182H	ENSP00000310006:R182H	R	+	2	0	NR1D2	23978499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.834000	0.97654	0.655000	0.94253	CGT		0.338	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			34	157	0	0	0	1	0	34	157					A	24003495	G	A	24003495	3	1	79	1	0	0	0	0	1	0	0	0	10658	1145	40	1	563	1	NR1D2	3	24003495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71406	24003495	174018935	3848	14165											
THRB	7068	broad.mit.edu	37	chr3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcctccgtttggaaggtCtgggcacttgagacactctg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000356447.4	-	4	536	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000396671.2_Missense_Mutation_p.Q84H|THRB_ENST00000416420.1_Missense_Mutation_p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	84	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTGGAAGGTCTGGGCACTTG	0.423																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(250-252)caG>caT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						201	192	195					3																	24231596		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231596C>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.252G>T	3.37:g.24231596C>A	ENSP00000348827:p.Gln84His					THRB_ENST00000416420.1_Missense_Mutation_p.Q84H|THRB_ENST00000356447.4_Missense_Mutation_p.Q84H	p.Q84H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			5	600	-			84			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.252G>T	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205171	0.58234	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96830	-3.27;-3.27;-3.27;-4.14	6.07	4.26	0.50523	.	.	.	.	.	D	0.91395	0.7285	N	0.24115	0.695	0.24548	N	0.994032	P	0.41041	0.736	B	0.35550	0.205	D	0.83841	0.0257	9	0.46703	T	0.11	.	11.6123	0.51066	0.0:0.8081:0.1256:0.0663	.	84	P10828	THB_HUMAN	H	84;84;84;53;84;84;84;84;84	ENSP00000379904:Q84H;ENSP00000348827:Q84H;ENSP00000414444:Q84H;ENSP00000414100:Q53H	ENSP00000348827:Q84H	Q	-	3	2	THRB	24206600	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	1.411000	0.34702	0.866000	0.35629	0.655000	0.94253	CAG		0.423	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		28	695	1	0	3.90053e-15	1	4.25374e-15	28	695					A	24231596	C	A	24231596	3	1	79	1	0	0	0	0	1	0	0	0	15927	912	32	3	1161	3	THRB	3	24231596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228101	24231596	173790834	3849	14166											
RARB	5915	broad.mit.edu	37	chr3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaaacacagagcaccagCtctgaggaactcgtcccaag	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000404969.1	+	2	201	c.201C>A	c.(199-201)agC>agA	p.S67R	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.S60R|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	67	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(178-180)agC>agA		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						96	103	100					3																	25502706		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25502706C>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.201C>A	3.37:g.25502706C>A	ENSP00000385865:p.Ser67Arg					RARB_ENST00000404969.1_Missense_Mutation_p.S67R|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR	p.S60R	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			2	601	+			67			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.180C>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.730521	0.89390	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.9;-3.12;-3.09	5.71	4.73	0.59995	.	0.088824	0.85682	D	0.000000	D	0.92740	0.7692	L	0.56280	1.765	0.53688	D	0.999978	D;D	0.62365	0.991;0.977	D;P	0.68039	0.955;0.905	D	0.91640	0.5326	10	0.72032	D	0.01	.	3.7645	0.08617	0.0:0.667:0.0:0.333	.	67;60	P10826;F1D8S6	RARB_HUMAN;.	R	67;67;67;60	ENSP00000373282:S67R;ENSP00000385865:S67R;ENSP00000332296:S60R	ENSP00000332296:S60R	S	+	3	2	RARB	25477710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.723000	0.93209	0.644000	0.83932	AGC		0.448	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		67	356	1	0	2.72615e-36	1	3.26283e-36	67	356					A	25502706	C	A	25502706	3	1	79	1	0	0	0	0	1	0	0	0	13103	796	28	3	186	3	RARB	3	25502706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271110	25502706	172519724	3850	14167											
TOP2B	7155	broad.mit.edu	37	chr3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacaagccactccttaCgtaaaccgtaataacttaat	3	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000264331.4	-	24	3160	c.3161G>A	c.(3160-3162)cGt>cAt	p.R1054H	TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1049H|TOP2B_ENST00000540199.1_5'Flank	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1054					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCACTCCTTACGTAAACCGTA	0.353																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(3145-3147)cGt>cAt		topoisomerase (DNA) II beta 180kDa							55	53	53					3																	25660243		1835	4083	5918	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25660243C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3161G>A	3.37:g.25660243C>T	ENSP00000264331:p.Arg1054His					TOP2B_ENST00000264331.4_Missense_Mutation_p.R1054H|TOP2B_ENST00000542520.1_5'UTR	p.R1049H			Q02880	TOP2B_HUMAN			24	3347	-			1054					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.3146G>A		.	.	.	.	.	.	.	.	.	.	C	28.1	4.890974	0.91889	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.68903	-0.36;-0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90894	0.4763	10	0.87932	D	0	-0.216	20.038	0.97570	0.0:1.0:0.0:0.0	.	1049	Q02880-2	.	H	1049;1054;1049	ENSP00000396704:R1049H;ENSP00000264331:R1054H	ENSP00000264331:R1054H	R	-	2	0	TOP2B	25635247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.737000	0.93849	0.557000	0.71058	CGT		0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				31	99	0	0	0	1	0	31	99					T	25660243	C	T	25660243	3	4	79	1	0	0	0	0	1	0	0	0	16419	536	19	1	1771	1	TOP2B	3	25660243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157537	25660243	172362187	3851	14168											
TOP2B	7155	broad.mit.edu	37	chr3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaagccatgtagcctacGctgtctccggtcttccataa	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000264331.4	-	17	2085	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TOP2B_ENST00000435706.2_Missense_Mutation_p.R691C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTAGCCTACGCTGTCTCCGG	0.388																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2071-2073)Cgt>Tgt		topoisomerase (DNA) II beta 180kDa							68	69	69					3																	25668286		2203	4300	6503	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668286G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2086C>T	3.37:g.25668286G>A	ENSP00000264331:p.Arg696Cys					TOP2B_ENST00000264331.4_Missense_Mutation_p.R696C	p.R691C			Q02880	TOP2B_HUMAN			17	2272	-			696					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2071C>T		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574399	0.65878	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	D	0.53745	0.962	P	0.49192	0.602	T	0.67397	-0.5681	10	0.66056	D	0.02	0.0	19.5213	0.95185	0.0:0.0:1.0:0.0	.	691	Q02880-2	.	C	691;696;691	ENSP00000396704:R691C;ENSP00000264331:R696C	ENSP00000264331:R696C	R	-	1	0	TOP2B	25643290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.316000	0.59178	2.681000	0.91329	0.557000	0.71058	CGT		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				9	58	0	0	0	1	0	9	58					A	25668286	G	A	25668286	3	1	79	1	0	0	0	0	1	0	0	0	16419	1087	38	1	2874	1	TOP2B	3	25668286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8043	25668286	172354144	3852	14169											
TOP2B	7155	broad.mit.edu	37	chr3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatcatccagtttgggaAtacctttgattttactgtat	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000264331.4	-	11	1375	c.1376T>C	c.(1375-1377)aTt>aCt	p.I459T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I454T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	459					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGTTTGGGAATACCTTTGAT	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1360-1362)aTt>aCt		topoisomerase (DNA) II beta 180kDa							128	115	119					3																	25672321		1842	4084	5926	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25672321A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1376T>C	3.37:g.25672321A>G	ENSP00000264331:p.Ile459Thr					TOP2B_ENST00000264331.4_Missense_Mutation_p.I459T	p.I454T			Q02880	TOP2B_HUMAN			11	1562	-			459					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1361T>C		.	.	.	.	.	.	.	.	.	.	A	22.2	4.259482	0.80246	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.95402	3.665	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.85031	0.0917	10	0.87932	D	0	-9.7441	15.2768	0.73748	1.0:0.0:0.0:0.0	.	454	Q02880-2	.	T	454;459;454	ENSP00000396704:I454T;ENSP00000264331:I459T	ENSP00000264331:I459T	I	-	2	0	TOP2B	25647325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	ATT		0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				31	109	0	0	0	1	0	31	109					G	25672321	A	G	25672321	3	3	79	1	0	0	0	0	1	0	0	0	16419	101	4	4	3608	4	TOP2B	3	25672321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4035	25672321	172350109	3853	14170											
NGLY1	55768	broad.mit.edu	37	chr3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaattttcttcatggTcatttaagctttgtctaaac	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000280700.5	-	12	2076	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	639	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1861-1863)gAc>gGc		N-glycanase 1							100	104	103					3																	25761000		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761000T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1916A>G	3.37:g.25761000T>C	ENSP00000280700:p.Asp639Gly					NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.D639G|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000422724.2_3'UTR	p.D621G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			12	1969	-			639			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1862A>G	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107473	0.37145	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.132657	0.64402	D	0.000003	T	0.20577	0.0495	L	0.41415	1.275	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.13407	0.007;0.009;0.006	T	0.05699	-1.0869	10	0.38643	T	0.18	-19.0564	8.5722	0.33576	0.0:0.1139:0.0:0.8861	.	597;621;639	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	G	621;639;618;597	ENSP00000387430:D621G;ENSP00000280700:D639G;ENSP00000307980:D618G;ENSP00000389888:D597G	ENSP00000280700:D639G	D	-	2	0	NGLY1	25736004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	2.188000	0.69820	0.454000	0.30748	GAC		0.373	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			63	255	0	0	0	1	0	63	255					C	25761000	T	C	25761000	3	2	79	1	0	0	0	0	1	0	0	0	10440	1667	58	4	52	4	NGLY1	3	25761000	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88679	25761000	172261430	3854	14171											
NEK10	152110	broad.mit.edu	37	chr3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctttatacttactaaCggttactttgtccttatccc	3	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000357467.2_Missense_Mutation_p.V68I|NEK10_ENST00000341435.5_Missense_Mutation_p.V671I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTTACTAACGGTTACTTTG	0.378																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2011-2013)Gtt>Att		NIMA-related kinase 10							114	107	109					3																	27326096		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326096C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2011G>A	3.37:g.27326096C>T	ENSP00000395849:p.Val671Ile					NEK10_ENST00000341435.5_Missense_Mutation_p.V671I|NEK10_ENST00000357467.2_Missense_Mutation_p.V68I	p.V671I			Q6ZWH5	NEK10_HUMAN			23	2373	-			671			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.2011G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.504|5.504	0.277915|0.277915	0.10403|0.10403	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.34072	.|1.38;1.38	6.02|6.02	4.23|4.23	0.50019|0.50019	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.278543	.|0.34046	.|N	.|0.004303	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00403|0.00403	-1.54|-1.54	0.35353|0.35353	D|D	0.787516|0.787516	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.02654	.|T	.|1	.|.	8.1462|8.1462	0.31113|0.31113	0.0:0.7434:0.0:0.2566|0.0:0.7434:0.0:0.2566	.|.	.|671;68	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	H|I	127|68;671;671	.|ENSP00000350059:V68I;ENSP00000343847:V671I	.|ENSP00000343847:V671I	R|V	-|-	2|1	0|0	NEK10|NEK10	27301100|27301100	0.962000|0.962000	0.33011|0.33011	0.669000|0.669000	0.29828|0.29828	0.956000|0.956000	0.61745|0.61745	1.794000|1.794000	0.38774|0.38774	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.378	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		35	220	0	0	0	1	0	35	220					T	27326096	C	T	27326096	3	4	79	1	0	0	0	0	1	0	0	0	10364	536	19	1	139	1	NEK10	3	27326096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1565096	27326096	170696334	3855	14172											
NEK10	152110	broad.mit.edu	37	chr3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtaaaatggtgatgtttttCcttcaaagaactgaaatgct	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*|NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1861-1863)Gaa>Taa		NIMA-related kinase 10							78	87	84					3																	27326381		2198	4297	6495	SO:0001587	stop_gained	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326381C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1861G>T	3.37:g.27326381C>A	ENSP00000395849:p.Glu621*					NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*	p.E621*			Q6ZWH5	NEK10_HUMAN			22	2223	-			621			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	ENST00000429845.2	37	c.1861G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	43|43|43	10.472178|10.472178|10.472178	0.99411|0.99411|0.99411	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	.|.|.	.|.|.	.|.|.	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.154036|.|.	0.53938|.|.	D|.|.	0.000041|.|.	.|T|T	.|0.66479|0.66479	.|0.2793|0.2793	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68827|0.68827	.|-0.5306|-0.5306	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	15.0168|15.0168|15.0168	0.71591|0.71591|0.71591	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	18;621;621|77|107	.|.|.	ENSP00000343847:E621X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NEK10|NEK10|NEK10	27301385|27301385|27301385	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.781000|0.781000|0.781000	0.44180|0.44180|0.44180	4.519000|4.519000|4.519000	0.60517|0.60517|0.60517	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAA|GGA|AGG		0.328	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		79	298	1	0	6.14238e-36	1	7.34322e-36	79	298					A	27326381	C	A	27326381	4	1	79	1	0	0	0	0	0	1	0	0	10364	864	30	3	293	3	NEK10	3	27326381	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	27326381	170696049	3856	14173											
RBMS3	27303	broad.mit.edu	37	chr3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatctccccatttctaTggatgagcaggagcttgaga	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000383767.2	+	5	788	c.452T>G	c.(451-453)aTg>aGg	p.M151R	RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000434693.2_Missense_Mutation_p.M150R			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	151	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(448-450)aTg>aGg		RNA binding motif, single stranded interacting protein 3							174	167	169					3																	29781263		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29781263T>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.452T>G	3.37:g.29781263T>G	ENSP00000373277:p.Met151Arg					RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000383767.2_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R	p.M150R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			5	1149	+		Ovarian(412;0.0956)	151			RRM 2.		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.449T>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578634	0.86645	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.88979	2.995	0.80722	D	1	D;P;D;D	0.59767	0.982;0.906;0.982;0.986	D;P;D;D	0.70935	0.927;0.888;0.927;0.971	T	0.57069	-0.7874	9	.	.	.	.	15.6346	0.76941	0.0:0.0:0.0:1.0	.	151;151;150;151	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	150;151;151;151;151;150;151;151	ENSP00000395592:M150R;ENSP00000379828:M151R;ENSP00000373277:M151R;ENSP00000391934:M151R;ENSP00000273139:M151R;ENSP00000373276:M150R;ENSP00000397926:M151R;ENSP00000400519:M151R	.	M	+	2	0	RBMS3	29756267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.093000	0.63338	0.460000	0.39030	ATG		0.408	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		173	607	0	0	0	1	0	173	607					G	29781263	T	G	29781263	3	3	79	1	0	0	0	0	1	0	0	0	13200	1464	51	4	470	4	RBMS3	3	29781263	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454882	29781263	168241167	3857	14174											
TGFBR2	7048	broad.mit.edu	37	chr3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcccgggggattgctcAcctccacagtgatcacactc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM075033	TGFBR2	M		c.(1078-1080)cAc>cCc		transforming growth factor, beta receptor II (70/80kDa)							170	153	159					3																	30713754		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713754A>C		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1079A>C	3.37:g.30713754A>C	ENSP00000295754:p.His360Pro					TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	p.H360P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1461	+			360			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1079A>C	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048007	0.75846	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67865	-0.29;-0.29	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87437	0.2392	10	0.87932	D	0	.	14.4331	0.67264	1.0:0.0:0.0:0.0	.	360;385	P37173;D2JYI1	TGFR2_HUMAN;.	P	360;385;190	ENSP00000295754:H360P;ENSP00000351905:H385P	ENSP00000295754:H360P	H	+	2	0	TGFBR2	30688758	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.335000	0.96500	1.809000	0.52856	0.528000	0.53228	CAC		0.602	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			163	799	0	0	0	1	0	163	799					C	30713754	A	C	30713754	3	2	79	1	0	0	0	0	1	0	0	0	15874	159	6	4	1172	4	TGFBR2	3	30713754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	932491	30713754	167308676	3858	14175											
TGFBR2	7048	broad.mit.edu	37	chr3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaagcatgaaggacaacGtgttgagagatcgagggcga	15	6	0	3	rs397516493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1471-1473)Gtg>Atg		transforming growth factor, beta receptor II (70/80kDa)							124	115	118					3																	30729950		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729950G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1471G>A	3.37:g.30729950G>A	ENSP00000295754:p.Val491Met					TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	p.V491M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1853	+			491			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1471G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232553	0.95207	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67345	-0.26;-0.26	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86550	0.1834	10	0.87932	D	0	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	491;516	P37173;D2JYI1	TGFR2_HUMAN;.	M	491;516;321	ENSP00000295754:V491M;ENSP00000351905:V516M	ENSP00000295754:V491M	V	+	1	0	TGFBR2	30704954	1.000000	0.71417	0.802000	0.32245	0.993000	0.82548	9.577000	0.98196	2.682000	0.91365	0.591000	0.81541	GTG		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			69	320	0	0	0	1	0	69	320					A	30729950	G	A	30729950	3	1	79	1	0	0	0	0	1	0	0	0	15874	1145	40	1	1572	1	TGFBR2	3	30729950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16196	30729950	167292480	3859	14176											
TGFBR2	7048	broad.mit.edu	37	chr3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacgacccagaggcccGtctcacagcccagtgtgtgg	13	15	1	1	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:15731757}.|R -> H (in LDS2). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.R528H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM050762	TGFBR2	M	rs104893815	c.(1582-1584)cGt>cAt		transforming growth factor, beta receptor II (70/80kDa)							72	68	69					3																	30732970		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732970G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1583G>A	3.37:g.30732970G>A	ENSP00000295754:p.Arg528His					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	p.R528H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1965	+			528		R -> C (in LDS1B).|R -> H (in LDS1B).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1583G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592391	0.96590	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99264	-5.65;-5.65	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	H	528;553;358	ENSP00000295754:R528H;ENSP00000351905:R553H	ENSP00000295754:R528H	R	+	2	0	TGFBR2	30707974	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	CGT		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			71	335	0	0	0	1	0	71	335					A	30732970	G	A	30732970	3	1	79	1	0	0	0	0	1	0	0	0	15874	1145	40	1	1688	1	TGFBR2	3	30732970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3020	30732970	167289460	3860	14177											
OSBPL10	114884	broad.mit.edu	37	chr3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttctcttttgcatcagCagctaaaatagagaaaacag	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	154	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			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)		TTTGCATCAGCAGCTAAAATA	0.433																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(460-462)Gct>Act		oxysterol binding protein-like 10							89	86	87					3																	31918002		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31918002C>T	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.460G>A	3.37:g.31918002C>T	ENSP00000379804:p.Ala154Thr					OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	3	582	-			154			PH.		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.460G>A	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564909	0.13498	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.45276	0.9;2.26	5.26	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361080	0.27956	N	0.017174	T	0.25865	0.0630	N	0.20401	0.57	0.26882	N	0.967524	P;B	0.43578	0.811;0.053	B;B	0.40825	0.341;0.088	T	0.07347	-1.0777	10	0.16896	T	0.51	-6.2716	9.3779	0.38295	0.1528:0.7726:0.0:0.0745	.	154;154	B4E212;Q9BXB5	.;OSB10_HUMAN	T	154	ENSP00000379804:A154T;ENSP00000406124:A154T	ENSP00000379804:A154T	A	-	1	0	OSBPL10	31893006	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.571000	0.36450	1.182000	0.42928	0.563000	0.77884	GCT		0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			38	205	0	0	0	1	0	38	205					T	31918002	C	T	31918002	3	4	79	1	0	0	0	0	1	0	0	0	11317	710	25	2	1874	2	OSBPL10	3	31918002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185032	31918002	166104428	3861	14178											
ZNF860	344787	broad.mit.edu	37	chr3	32030747	32030747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgttggagaactacaggaAcctgcattctgtggatatct	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32030747A>G	ENST00000360311.4	+	2	725	c.176A>G	c.(175-177)aAc>aGc	p.N59S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AACTACAGGAACCTGCATTCT	0.453																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(175-177)aAc>aGc		zinc finger protein 860							83	70	74					3																	32030747		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030747A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.176A>G	3.37:g.32030747A>G	ENSP00000373274:p.Asn59Ser						p.N59S	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	725	+			59			KRAB.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.176A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690412	0.29962	.	.	ENSG00000197385	ENST00000360311	T	0.02525	4.26	0.14	0.14	0.14804	Krueppel-associated box (4);	.	.	.	.	T	0.09158	0.0226	M	0.75447	2.3	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.16305	-1.0407	8	.	.	.	.	4.624	0.12469	0.9996:0.0:4.0E-4:0.0	.	59	A6NHJ4	ZN860_HUMAN	S	59	ENSP00000373274:N59S	.	N	+	2	0	ZNF860	32005751	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-1.384000	0.02542	0.157000	0.19338	0.155000	0.16302	AAC		0.453	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			80	356	0	0	0	1	0	80	356					G	32030747	A	G	32030747	3	3	79	1	0	0	0	0	1	0	0	0	18247	43	2	4	178	4	ZNF860	3	32030747	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112745	32030747	165991683	3862	14179											
ZNF860	344787	broad.mit.edu	37	chr3	32031382	32031382	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggtctttaatcagaagCgataccttgcatgccatcat	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031382C>T	ENST00000360311.4	+	2	1360	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TAATCAGAAGCGATACCTTGC	0.368																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(811-813)Cga>Tga		zinc finger protein 860							114	89	97					3																	32031382		692	1591	2283	SO:0001587	stop_gained	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031382C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.811C>T	3.37:g.32031382C>T	ENSP00000373274:p.Arg271*						p.R271*	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1360	+			271					B4DFA4	Nonsense_Mutation	SNP	ENST00000360311.4	37	c.811C>T	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789049	0.90367	.	.	ENSG00000197385	ENST00000360311	.	.	.	0.345	-0.691	0.11305	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5488	0.12098	0.0:0.2934:0.0:0.7066	.	.	.	.	X	271	.	.	R	+	1	2	ZNF860	32006386	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-2.051000	0.01402	-1.274000	0.02421	-1.289000	0.01358	CGA		0.368	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			63	385	0	0	0	1	0	63	385					T	32031382	C	T	32031382	4	4	79	1	0	0	0	0	0	1	0	0	18247	760	27	1	813	1	ZNF860	3	32031382	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635	32031382	165991048	3863	14180											
ZNF860	344787	broad.mit.edu	37	chr3	32031577	32031577	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgaaagacataggagaattCatactggagagaaaccatac	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031577C>T	ENST00000360311.4	+	2	1555	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TAGGAGAATTCATACTGGAGA	0.378																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1006-1008)Cat>Tat		zinc finger protein 860							32	31	31					3																	32031577		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031577C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1006C>T	3.37:g.32031577C>T	ENSP00000373274:p.His336Tyr						p.H336Y	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1555	+			336					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1006C>T	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187981	0.57909	.	.	ENSG00000197385	ENST00000360311	T	0.67523	-0.27	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67859	0.2938	M	0.89904	3.07	0.25865	N	0.983776	P	0.50369	0.934	B	0.40864	0.342	T	0.63171	-0.6697	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	336	A6NHJ4	ZN860_HUMAN	Y	336	ENSP00000373274:H336Y	.	H	+	1	0	ZNF860	32006581	0.999000	0.42202	0.537000	0.28052	0.518000	0.34316	5.264000	0.65513	0.392000	0.25172	0.393000	0.25936	CAT		0.378	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			34	181	0	0	0	1	0	34	181					T	32031577	C	T	32031577	3	4	79	1	0	0	0	0	1	0	0	0	18247	826	29	2	1008	2	ZNF860	3	32031577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195	32031577	165990853	3864	14181											
CMTM7	112616	broad.mit.edu	37	chr3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagtggtcaccatttgcGacttgataatgatcctcgcc	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	84	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547																																						ENST00000334983.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(250-252)Gac>Aac		CKLF-like MARVEL transmembrane domain containing 7							220	185	197					3																	32483422		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483422G>A	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"chemokine-like factor super family 7", "chemokine-like factor superfamily 7"	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.250G>A	3.37:g.32483422G>A	ENSP00000335605:p.Asp84Asn					CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN			2	486	+			84			MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.250G>A	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210546	0.09757	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.25085	1.82	5.5	3.58	0.41010	Marvel (1);MARVEL-like domain (1);	0.293959	0.35466	N	0.003183	T	0.12433	0.0302	N	0.17674	0.51	0.27806	N	0.942302	B;B	0.21821	0.061;0.011	B;B	0.14578	0.011;0.006	T	0.18681	-1.0329	10	0.23891	T	0.37	.	3.0843	0.06272	0.2612:0.0:0.5303:0.2085	.	84;84	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	N	84;84;40	ENSP00000335605:D84N	ENSP00000335605:D84N	D	+	1	0	CMTM7	32458426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.887000	0.48586	0.571000	0.29365	-0.229000	0.12294	GAC		0.547	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			26	611	0	0	0	1	0	26	611					A	32483422	G	A	32483422	3	1	79	1	0	0	0	0	1	0	0	0	3597	1058	37	1	256	1	CMTM7	3	32483422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	451845	32483422	165539008	3865	14182											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571040	32571040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagatgtacctttcatgTttggatcaattttttttgac	7	5	2	2	rs373462716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	ENST00000273130.4	-	11	1401	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	433					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCTTTCATGTTTGGATCAAT	0.378																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1297-1299)aAc>aGc		dynein, cytoplasmic 1, light intermediate chain 1							68	65	66					3																	32571040		2203	4300	6503	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571040T>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1298A>G	3.37:g.32571040T>C	ENSP00000273130:p.Asn433Ser					DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	p.N433S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			11	1401	-			433					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.1298A>G	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479274	0.44044	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.19394	2.15;2.15	6.17	6.17	0.99709	.	0.141137	0.64402	D	0.000007	T	0.19846	0.0477	L	0.48877	1.53	0.50813	D	0.999897	B;B	0.20550	0.046;0.002	B;B	0.22152	0.038;0.005	T	0.05903	-1.0857	10	0.23302	T	0.38	-24.0102	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	317;433	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	433;317	ENSP00000273130:N433S;ENSP00000407279:N317S	ENSP00000273130:N433S	N	-	2	0	DYNC1LI1	32546044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.339000	0.65953	2.371000	0.80710	0.533000	0.62120	AAC		0.378	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		17	88	0	0	0	1	0	17	88					C	32571040	T	C	32571040	3	2	79	1	0	0	0	0	1	0	0	0	4860	1725	60	4	285	4	DYNC1LI1	3	32571040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87618	32571040	165451390	3866	14183											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32572011	32572011	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttccttctcatgtacaAactgaaatgagcaatgcaca	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	361					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.e9-1		dynein, cytoplasmic 1, light intermediate chain 1							78	78	78					3																	32572011		2203	4297	6500	SO:0001630	splice_region_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32572011A>G	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1081-1T>C	3.37:g.32572011A>G						DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245_splice	p.F361_splice	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			9	1185	-			361					A2RRG7|Q53HC8|Q53HK7	Splice_Site	SNP	ENST00000273130.4	37	c.1080_splice	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437829	0.43326	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18960	2.18;2.18	5.95	5.95	0.96441	.	0.093290	0.85682	D	0.000000	T	0.14917	0.0360	N	0.12182	0.205	0.58432	D	0.999991	P;B	0.47191	0.891;0.007	B;B	0.43225	0.412;0.013	T	0.11743	-1.0575	10	0.21014	T	0.42	-17.4934	16.4069	0.83677	1.0:0.0:0.0:0.0	.	245;361	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	361;245	ENSP00000273130:F361S;ENSP00000407279:F245S	ENSP00000273130:F361S	F	-	2	0	DYNC1LI1	32547015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.252000	0.78309	2.272000	0.75746	0.460000	0.39030	TTT		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141	Missense_Mutation	60	226	0	0	0	1	0	60	226					G	32572011	A	G	32572011	5	3	79	1	0	0	0	0	0	0	1	0	4860	28	1	4	509	4	DYNC1LI1	3	32572011	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971	32572011	165450419	3867	14184											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttcatgtaatattcCtattttcttatcattatccc	1	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	334					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1000-1002)Gga>Tga		dynein, cytoplasmic 1, light intermediate chain 1							75	82	80					3																	32574558		2203	4288	6491	SO:0001587	stop_gained	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32574558C>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1000G>T	3.37:g.32574558C>A	ENSP00000273130:p.Gly334*					DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	p.G334*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			8	1103	-			334					A2RRG7|Q53HC8|Q53HK7	Nonsense_Mutation	SNP	ENST00000273130.4	37	c.1000G>T	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	39	7.298957	0.98196	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.96	5.96	0.96718	.	0.048924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6077	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	334;218	.	ENSP00000273130:G334X	G	-	1	0	DYNC1LI1	32549562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GGA		0.294	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		30	156	1	0	2.65835e-16	1	2.91905e-16	30	156					A	32574558	C	A	32574558	4	1	79	1	0	0	0	0	0	1	0	0	4860	690	24	3	595	3	DYNC1LI1	3	32574558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2547	32574558	165447872	3868	14185											
CNOT10	25904	broad.mit.edu	37	chr3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaattgtacagtctattgTtggtcaaggctatcatcgta	10	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	425					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1273-1275)gTt>gCt		CCR4-NOT transcription complex, subunit 10							78	82	81					3																	32774973		2203	4299	6502	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32774973T>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1274T>C	3.37:g.32774973T>C	ENSP00000330060:p.Val425Ala					CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	p.V425A	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			11	1590	+			425					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1274T>C	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686005	0.88639	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.52754	1.25;1.2;0.65;1.17	5.74	5.74	0.90152	.	0.105420	0.64402	D	0.000004	T	0.63686	0.2532	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.63880	0.98;0.993;0.983;0.988	P;P;P;P	0.60789	0.718;0.879;0.826;0.675	T	0.64778	-0.6327	10	0.52906	T	0.07	-24.444	16.3426	0.83092	0.0:0.0:0.0:1.0	.	485;425;424;425	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	A	425;425;325;197;485	ENSP00000329376:V425A;ENSP00000330060:V425A;ENSP00000442552:V197A;ENSP00000399862:V485A	ENSP00000330060:V425A	V	+	2	0	CNOT10	32749977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.317000	0.78254	0.460000	0.39030	GTT		0.294	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		32	155	0	0	0	1	0	32	155					C	32774973	T	C	32774973	3	2	79	1	0	0	0	0	1	0	0	0	3627	1725	60	4	1316	4	CNOT10	3	32774973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	200415	32774973	165247457	3869	14186											
TRIM71	131405	broad.mit.edu	37	chr3	32860298	32860298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacatcgagcgcggcccGccgggtcccggtgccgcagc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	242					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721																																						ENST00000383763.4																			1	Substitution - coding silent(1)	p.P242P(1)	lung(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(724-726)ccG>ccA		tripartite motif containing 71, E3 ubiquitin protein ligase							11	12	12					3																	32860298		1658	3720	5378	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32860298G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.726G>A	3.37:g.32860298G>A							p.P242P	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			1	789	+			242						Silent	SNP	ENST00000383763.5	37	c.726G>A	CCDS43060.1																																																																																				0.721	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		44	208	0	0	0	1	0	44	208					A	32860298	G	A	32860298	2	1	79	1	0	0	0	0	0	0	0	1	16597	1074	38	1		1	TRIM71	3	32860298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85325	32860298	165162132	3870	14187											
CCR4	1233	broad.mit.edu	37	chr3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcgtgttttccctccCtttttggggctactatgcag	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	93					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(277-279)cCt>cTt		chemokine (C-C motif) receptor 4							231	220	224					3																	32995192		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995192C>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.278C>T	3.37:g.32995192C>T	ENSP00000332659:p.Pro93Leu						p.P93L	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	446	+			93					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.278C>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934249	0.92458	.	.	ENSG00000183813	ENST00000330953	T	0.72051	-0.62	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	D	0.89382	0.6699	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	93	P51679	CCR4_HUMAN	L	93	ENSP00000332659:P93L	ENSP00000332659:P93L	P	+	2	0	CCR4	32970196	1.000000	0.71417	0.954000	0.39281	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCT		0.498	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			149	629	0	0	0	1	0	149	629					T	32995192	C	T	32995192	3	4	79	1	0	0	0	0	1	0	0	0	2952	681	24	2	280	2	CCR4	3	32995192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134894	32995192	165027238	3871	14188											
CCR4	1233	broad.mit.edu	37	chr3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatcatgctgttttgctaCtccatgatcatcaggacctt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTGCTACTCCATGATCA	0.483																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(664-666)taC>taA		chemokine (C-C motif) receptor 4							136	118	124					3																	32995580		2203	4300	6503	SO:0001587	stop_gained	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995580C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.666C>A	3.37:g.32995580C>A	ENSP00000332659:p.Tyr222*						p.Y222*	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	834	+			222					Q9ULY6|Q9ULY7	Nonsense_Mutation	SNP	ENST00000330953.5	37	c.666C>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576924	0.96565	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.95	4.13	0.48395	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4166	0.38525	0.0:0.7773:0.0:0.2227	.	.	.	.	X	222	.	ENSP00000332659:Y222X	Y	+	3	2	CCR4	32970584	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.039000	0.30266	1.498000	0.48600	0.655000	0.94253	TAC		0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			14	413	1	0	0.000151284	1	0.000153739	14	413					A	32995580	C	A	32995580	4	1	79	1	0	0	0	0	0	1	0	0	2952	576	20	3	668	3	CCR4	3	32995580	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	32995580	165026850	3872	14189											
GLB1	2720	broad.mit.edu	37	chr3	33099761	33099761	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccatattcattttcaaCctgtgagtgaaaaaagagca	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000399402.3	-	6	594	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F	GLB1_ENST00000445488.2_Splice_Site_p.V233F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Splice_Site_p.V185F	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	185			L -> R (in GM1G2 and GM1G3; 6.7% of wild- type enzyme activity). {ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:19472408}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCATTTTCAACCTGTGAGTGA	0.453																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e6-1		galactosidase, beta 1							27	29	28					3																	33099761		1851	4099	5950	SO:0001630	splice_region_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33099761C>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.463-1G>T	3.37:g.33099761C>A						GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Splice_Site_p.V233_splice|GLB1_ENST00000399402.3_Splice_Site_p.V155_splice	p.V185_splice	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			6	697	-		Melanoma(143;0.104)	185					B2R7H8|B7Z6B0|P16279	Splice_Site	SNP	ENST00000399402.3	37	c.552_splice	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775302	0.90108	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98516	1.0621	10	0.87932	D	0	-22.4263	19.5175	0.95170	0.0:1.0:0.0:0.0	.	185;185;233	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	F	155;185;233;26;54	ENSP00000382333:V155F;ENSP00000306920:V185F;ENSP00000393377:V233F;ENSP00000411813:V26F;ENSP00000411769:V54F	ENSP00000306920:V185F	V	-	1	0	GLB1	33074765	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.574000	0.67424	2.780000	0.95670	0.655000	0.94253	GTT		0.453	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404	Missense_Mutation	30	125	1	0	5.91797e-21	1	6.65236e-21	30	125					A	33099761	C	A	33099761	5	1	79	1	0	0	0	0	0	0	1	0	6456	521	18	3	1524	3	GLB1	3	33099761	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104181	33099761	164922669	3873	14190											
TMPPE	643853	broad.mit.edu	37	chr3	33134406	33134406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcccgtagtaggctgtgcCtgggctgacatacacgaatg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33134406C>A	ENST00000342462.4	-	2	1472	c.1282G>T	c.(1282-1284)Ggc>Tgc	p.G428C	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	428						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TAGGCTGTGCCTGGGCTGACA	0.587																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1282-1284)Ggc>Tgc		transmembrane protein with metallophosphoesterase domain							76	70	72					3																	33134406		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33134406C>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1282G>T	3.37:g.33134406C>A	ENSP00000343398:p.Gly428Cys					GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C	p.G428C	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	1472	-			428					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.1282G>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053814	0.75960	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	D	0.88310	0.6402	H	0.96633	3.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91371	0.5119	9	0.87932	D	0	-17.1482	17.6706	0.88216	0.0:1.0:0.0:0.0	.	428	Q6ZT21	TMPPE_HUMAN	C	291;428	.	ENSP00000343398:G428C	G	-	1	0	TMPPE	33109410	1.000000	0.71417	0.935000	0.37517	0.964000	0.63967	5.760000	0.68793	2.941000	0.99782	0.655000	0.94253	GGC		0.587	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		5	188	1	0	1.23904e-05	1	1.26975e-05	5	188					A	33134406	C	A	33134406	3	1	79	1	0	0	0	0	1	0	0	0	16290	681	24	3	83	3	TMPPE	3	33134406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34645	33134406	164888024	3874	14191											
FBXL2	25827	broad.mit.edu	37	chr3	33415414	33415414	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacttgcagtcctgctcaGtaagtagcgtgcctttcctg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.e9+1		F-box and leucine-rich repeat protein 2							151	143	146					3																	33415414		2203	4300	6503	SO:0001630	splice_region_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415414G>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.657+1G>A	3.37:g.33415414G>A						FBXL2_ENST00000283627.6_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site		NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			9	748	+									Splice_Site	SNP	ENST00000484457.1	37		CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953424	0.73902	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8767	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXL2	33390418	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.722000	0.98770	2.873000	0.98535	0.644000	0.83932	.		0.498	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	Intron	63	229	0	0	0	1	0	63	229					A	33415414	G	A	33415414	5	1	79	1	0	0	0	0	0	0	1	0	5741	1043	36	2	692	2	FBXL2	3	33415414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281008	33415414	164607016	3875	14192											
UBP1	7342	broad.mit.edu	37	chr3	33444367	33444367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggctgttattcacataGgctgtgggggcatcgggcca	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Silent_p.A319A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	319					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(955-957)gcC>gcT		upstream binding protein 1 (LBP-1a)							78	65	70					3																	33444367		2203	4300	6503	SO:0001819	synonymous_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33444367G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.957C>T	3.37:g.33444367G>A						UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Silent_p.A319A	p.A319A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			9	1486	-			319					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.957C>T	CCDS2659.1																																																																																				0.458	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		8	84	0	0	0	1	0	8	84					A	33444367	G	A	33444367	2	1	79	1	0	0	0	0	0	0	0	1	16949	987	35	2		2	UBP1	3	33444367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28953	33444367	164578063	3876	14193											
UBP1	7342	broad.mit.edu	37	chr3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttgtgtcaattattcCcacagacattggaatatcta	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000486388.1_5'Flank|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	156					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(466-468)Gga>Tga		upstream binding protein 1 (LBP-1a)							125	122	123					3																	33453162		2203	4300	6503	SO:0001587	stop_gained	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33453162C>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.466G>T	3.37:g.33453162C>A	ENSP00000283629:p.Gly156*					UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			5	995	-			156					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Nonsense_Mutation	SNP	ENST00000283629.3	37	c.466G>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	41	9.064091	0.99053	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8616	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000283628:G156X	G	-	1	0	UBP1	33428166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.850000	0.98022	0.650000	0.86243	GGA		0.333	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		89	463	1	0	5.42582e-32	1	6.39997e-32	89	463					A	33453162	C	A	33453162	4	1	79	1	0	0	0	0	0	1	0	0	16949	632	22	3	1204	3	UBP1	3	33453162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8795	33453162	164569268	3877	14194											
CLASP2	23122	broad.mit.edu	37	chr3	33623338	33623338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaaagagcgaacaggActtgtgtctctgctgctctc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000468888.2	-	23	2371	c.2325T>C	c.(2323-2325)agT>agC	p.S775S	CLASP2_ENST00000399362.4_Silent_p.S774S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000461133.3_Silent_p.S541S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	541					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCGAACAGGACTTGTGTCTC	0.517																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2320-2322)agT>agC		cytoplasmic linker associated protein 2							120	132	128					3																	33623338		2062	4206	6268	SO:0001819	synonymous_variant	23122							g.chr3:33623338A>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2325T>C	3.37:g.33623338A>G						CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000468888.2_Silent_p.S775S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000461133.3_Silent_p.S541S	p.S774S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			23	2675	-			775					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37	c.2322T>C																																																																																					0.517	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		22	78	0	0	0	1	0	22	78					G	33623338	A	G	33623338	2	3	79	1	0	0	0	0	0	0	0	1	3464	272	10	4		4	CLASP2	3	33623338	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	170176	33623338	164399092	3878	14195											
PDCD6IP	10015	broad.mit.edu	37	chr3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgtataagcctttaagaGcaggtaaaaatgtgtataaa	8	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	490	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(1468-1470)Gca>Tca		programmed cell death 6 interacting protein							58	58	58					3																	33885712		2203	4299	6502	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33885712G>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1468G>T	3.37:g.33885712G>T	ENSP00000307387:p.Ala490Ser					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S	p.A490S			Q8WUM4	PDC6I_HUMAN			11	1845	+			490			Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1468G>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550891	0.27739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.28069	1.63;1.63	5.27	4.4	0.53042	.	0.369300	0.31949	N	0.006801	T	0.15305	0.0369	N	0.20766	0.605	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14578	0.009;0.011;0.005	T	0.07654	-1.0761	10	0.07644	T	0.81	-6.8926	6.2042	0.20593	0.1533:0.0:0.6964:0.1503	.	271;495;490	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	490;495	ENSP00000307387:A490S;ENSP00000411825:A495S	ENSP00000307387:A490S	A	+	1	0	PDCD6IP	33860716	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.287000	0.43505	1.238000	0.43771	-0.259000	0.10710	GCA		0.338	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			53	221	1	0	5.73376e-24	1	6.5387e-24	53	221					T	33885712	G	T	33885712	3	4	79	1	0	0	0	0	1	0	0	0	11666	971	34	3	1525	3	PDCD6IP	3	33885712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262374	33885712	164136718	3879	14196											
ARPP21	10777	broad.mit.edu	37	chr3	35748539	35748539	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcggtttatcttgaagCgagataactctagtattgat	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:35748539C>T	ENST00000187397.4	+	10	1216	c.760C>T	c.(760-762)Cga>Tga	p.R254*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	254	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TATCTTGAAGCGAGATAACTC	0.378																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(760-762)Cga>Tga		cAMP-regulated phosphoprotein, 21kDa							102	107	105					3																	35748539		2203	4300	6503	SO:0001587	stop_gained	10777					cytoplasm	nucleic acid binding	g.chr3:35748539C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.760C>T	3.37:g.35748539C>T	ENSP00000187397:p.Arg254*					ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*	p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			10	1216	+			254					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	c.760C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	41	8.576318	0.98870	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.019	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000187397:R254X	R	+	1	2	ARPP21	35723543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.411000	0.34702	2.880000	0.98712	0.650000	0.86243	CGA		0.378	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		16	416	0	0	0	1	0	16	416					T	35748539	C	T	35748539	4	4	79	1	0	0	0	0	0	1	0	0	979	760	27	1	803	1	ARPP21	3	35748539	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1862827	35748539	162273891	3880	14197											
DCLK3	85443	broad.mit.edu	37	chr3	36757013	36757013	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccagatctttagcagCtgttggaatgagagaagggg	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1		DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTTAGCAGCTGTTGGAATG	0.473																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-1		doublecortin-like kinase 3							69	69	69					3																	36757013		1928	4125	6053	SO:0001630	splice_region_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36757013C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1754-1G>T	3.37:g.36757013C>A								NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			5	2244	-									Splice_Site	SNP	ENST00000416516.2	37		CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585628	0.86748	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCLK3	36732017	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.295000	0.78780	2.885000	0.99019	0.655000	0.94253	.		0.473	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	Intron	56	202	1	0	1.22119e-34	1	1.45331e-34	56	202					A	36757013	C	A	36757013	5	1	79	1	0	0	0	0	0	0	1	0	4304	811	28	3	197	3	DCLK3	3	36757013	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008474	36757013	161265417	3881	14198											
TRANK1	9881	broad.mit.edu	37	chr3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacccttaccgccagcCcaggccttccgcctgtagag	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000429976.2	-	21	8818	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C	TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2857							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCGCCAGCCCAGGCCTTCC	0.582																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(8569-8571)tgG>tgT		tetratricopeptide repeat and ankyrin repeat containing 1							47	47	47					3																	36872371		1957	4158	6115	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872371C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8571G>T	3.37:g.36872371C>A	ENSP00000416168:p.Trp2857Cys					TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	p.W2857C			O15050	TRNK1_HUMAN			21	8818	-			2857					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.8571G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340832	0.60963	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.62498	0.02;0.43;0.02	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75425	-0.3322	10	0.87932	D	0	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	2857	O15050	TRNK1_HUMAN	C	2307;2857;2307	ENSP00000416826:W2307C;ENSP00000416168:W2857C;ENSP00000301807:W2307C	ENSP00000301807:W2307C	W	-	3	0	TRANK1	36847375	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.359000	0.66074	2.607000	0.88179	0.561000	0.74099	TGG		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		56	207	1	0	8.44121e-28	1	9.79253e-28	56	207					A	36872371	C	A	36872371	3	1	79	1	0	0	0	0	1	0	0	0	16507	624	22	3	218	3	TRANK1	3	36872371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115358	36872371	161150059	3882	14199											
TRANK1	9881	broad.mit.edu	37	chr3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttccactgcaatagcaGcttcttcaaaaagctcctct	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000429976.2	-	20	5760	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1838							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAATAGCAGCTTCTTCAAA	0.483																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5512-5514)gCt>gAt		tetratricopeptide repeat and ankyrin repeat containing 1							108	108	108					3																	36876271		1913	4119	6032	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36876271G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5513C>A	3.37:g.36876271G>T	ENSP00000416168:p.Ala1838Asp					TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	p.A1838D			O15050	TRNK1_HUMAN			20	5760	-			1838					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5513C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604635	0.87157	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000017	T	0.56834	0.2012	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.57394	-0.7819	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1838	O15050	TRNK1_HUMAN	D	1288;1838;1288	ENSP00000416826:A1288D;ENSP00000416168:A1838D;ENSP00000301807:A1288D	ENSP00000301807:A1288D	A	-	2	0	TRANK1	36851275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	GCT		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		77	233	1	0	5.42381e-49	1	6.70277e-49	77	233					T	36876271	G	T	36876271	3	4	79	1	0	0	0	0	1	0	0	0	16507	971	34	3	3280	3	TRANK1	3	36876271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3900	36876271	161146159	3883	14200											
TRANK1	9881	broad.mit.edu	37	chr3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatacagactgaagaggCtgtagatctcactccggtct	11	10	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000429976.2	-	12	4293	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I	TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGAAGAGGCTGTAGATCTC	0.483																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4045-4047)aGc>aTc		tetratricopeptide repeat and ankyrin repeat containing 1							90	93	92					3																	36897035		1911	4113	6024	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897035C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4046G>T	3.37:g.36897035C>A	ENSP00000416168:p.Ser1349Ile					TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	p.S1349I			O15050	TRNK1_HUMAN			12	4293	-			1349					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4046G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	4.429	0.079359	0.08533	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	-1.71	0.08133	.	1.536190	0.03332	N	0.193583	T	0.74741	0.3756	N	0.24115	0.695	0.09310	N	1	B	0.32939	0.391	B	0.38428	0.273	T	0.64508	-0.6391	10	0.46703	T	0.11	.	7.0783	0.25217	0.0:0.2959:0.1271:0.577	.	1349	O15050	TRNK1_HUMAN	I	799;1349;799	ENSP00000416826:S799I;ENSP00000416168:S1349I;ENSP00000301807:S799I	ENSP00000301807:S799I	S	-	2	0	TRANK1	36872039	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.412000	0.02476	-0.030000	0.13804	0.561000	0.74099	AGC		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		115	543	1	0	4.16533e-50	1	5.15817e-50	115	543					A	36897035	C	A	36897035	3	1	79	1	0	0	0	0	1	0	0	0	16507	797	28	3	4779	3	TRANK1	3	36897035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20764	36897035	161125395	3884	14201											
TRANK1	9881	broad.mit.edu	37	chr3	36897105	36897105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatttcttatatacttcttCagtgagtctcccatggggac	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897105C>T	ENST00000429976.2	-	12	4223	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E776K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1326							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TATACTTCTTCAGTGAGTCTC	0.458																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3976-3978)Gaa>Aaa		tetratricopeptide repeat and ankyrin repeat containing 1							88	87	87					3																	36897105		1825	4076	5901	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897105C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3976G>A	3.37:g.36897105C>T	ENSP00000416168:p.Glu1326Lys					TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E776K	p.E1326K			O15050	TRNK1_HUMAN			12	4223	-			1326					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3976G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602149	0.66445	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.96;1.55	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.39627	0.1085	N	0.25789	0.76	0.42064	D	0.991171	P	0.51791	0.948	P	0.56163	0.793	T	0.10132	-1.0643	10	0.44086	T	0.13	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	1326	O15050	TRNK1_HUMAN	K	776;1326;776	ENSP00000416826:E776K;ENSP00000416168:E1326K;ENSP00000301807:E776K	ENSP00000301807:E776K	E	-	1	0	TRANK1	36872109	0.994000	0.37717	0.994000	0.49952	0.987000	0.75469	3.224000	0.51238	2.735000	0.93741	0.561000	0.74099	GAA		0.458	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		19	588	0	0	0	1	0	19	588					T	36897105	C	T	36897105	3	4	79	1	0	0	0	0	1	0	0	0	16507	835	29	2	4849	2	TRANK1	3	36897105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	36897105	161125325	3885	14202											
TRANK1	9881	broad.mit.edu	37	chr3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccagtgccacttcgccCaataaggatgatgggctcca	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000429976.2	-	12	3341	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1032							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCACTTCGCCCAATAAGGATG	0.547																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3094-3096)Ggg>Agg		tetratricopeptide repeat and ankyrin repeat containing 1							82	81	82					3																	36897987		1966	4152	6118	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897987C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3094G>A	3.37:g.36897987C>T	ENSP00000416168:p.Gly1032Arg					TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	p.G1032R			O15050	TRNK1_HUMAN			12	3341	-			1032					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3094G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929489	0.73327	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.90261	-2.64;-2.64;-2.64	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	D	0.95265	0.8464	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.0703	0.93130	0.0:1.0:0.0:0.0	.	1032	O15050	TRNK1_HUMAN	R	482;1032;482	ENSP00000416826:G482R;ENSP00000416168:G1032R;ENSP00000301807:G482R	ENSP00000301807:G482R	G	-	1	0	TRANK1	36872991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.976000	0.70484	2.594000	0.87642	0.462000	0.41574	GGG		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		83	335	0	0	0	1	0	83	335					T	36897987	C	T	36897987	3	4	79	1	0	0	0	0	1	0	0	0	16507	594	21	2	5731	2	TRANK1	3	36897987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882	36897987	161124443	3886	14203											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatcaaaactatccattCggatatggtatttatgatct	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	303					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(907-909)Gaa>Aaa		EPM2A (laforin) interacting protein 1							73	70	71					3																	37033662		1881	4101	5982	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033662C>T	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.907G>A	3.37:g.37033662C>T	ENSP00000406027:p.Glu303Lys						p.E303K	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	1133	-			303					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.907G>A	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812362	0.16537	.	.	ENSG00000178567	ENST00000322716	D	0.83591	-1.74	4.8	3.91	0.45181	.	.	.	.	.	T	0.54208	0.1844	N	0.02539	-0.55	0.09310	N	1	B	0.33198	0.401	B	0.29785	0.107	T	0.54241	-0.8323	9	0.02654	T	1	4.1946	6.531	0.22326	0.0:0.7191:0.1851:0.0957	.	303	Q7L775	EPMIP_HUMAN	K	303	ENSP00000406027:E303K	ENSP00000406027:E303K	E	-	1	0	EPM2AIP1	37008666	0.632000	0.27172	0.747000	0.31113	0.992000	0.81027	1.580000	0.36547	1.210000	0.43336	0.557000	0.71058	GAA		0.398	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		31	328	0	0	0	1	0	31	328					T	37033662	C	T	37033662	3	4	79	1	0	0	0	0	1	0	0	0	5202	893	31	1	920	1	EPM2AIP1	3	37033662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135675	37033662	160988768	3887	14204											
MLH1	4292	broad.mit.edu	37	chr3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtacacaatgcaggcaTtagtttctcagttaaaaaag	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000231790.2	+	7	785	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	190					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGCAGGCATTAGTTTCTCA	0.343		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(568-570)aTt>aCt	Mismatch excision repair (MMR)	mutL homolog 1							194	208	204					3																	37053334		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37053334T>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.569T>C	3.37:g.37053334T>C	ENSP00000231790:p.Ile190Thr					MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	p.I190T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			7	785	+			190					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.569T>C	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580974	0.46006	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.118924	0.64402	D	0.000017	D	0.90549	0.7038	M	0.76170	2.325	0.80722	D	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.17098	0.011;0.011;0.017	D	0.87158	0.2213	10	0.46703	T	0.11	-19.4156	16.3662	0.83325	0.0:0.0:0.0:1.0	.	92;190;190	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	T	190;156;156;54;92	ENSP00000231790:I190T;ENSP00000402564:I92T	ENSP00000231790:I190T	I	+	2	0	MLH1	37028338	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	ATT		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		243	852	0	0	0	1	0	243	852					C	37053334	T	C	37053334	3	2	79	1	0	0	0	0	1	0	0	0	9658	1493	52	4	595	4	MLH1	3	37053334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19672	37053334	160969096	3888	14205											
VILL	50853	broad.mit.edu	37	chr3	38047333	38047333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaaggaggcggtggcCtggggccaggagtacctgaa	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A			O15195	VILL_HUMAN	villin-like	667					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCGGTGGCCTGGGGCCAGG	0.642																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1999-2001)gcC>gcT		villin-like							74	80	78					3																	38047333		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047333C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2001C>T	3.37:g.38047333C>T						VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A	p.A667A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2267	+			667					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.2001C>T	CCDS2670.2																																																																																				0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		17	645	0	0	0	1	0	17	645					T	38047333	C	T	38047333	2	4	79	1	0	0	0	0	0	0	0	1	17219	668	24	2		2	VILL	3	38047333	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993999	38047333	159975097	3889	14206											
VILL	50853	broad.mit.edu	37	chr3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagagaatgatctggtgCgaagccccaagtcggctggc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*			O15195	VILL_HUMAN	villin-like	772					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2314-2316)Cga>Tga		villin-like							34	41	39					3																	38048048		2202	4298	6500	SO:0001587	stop_gained	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048048C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2314C>T	3.37:g.38048048C>T	ENSP00000283713:p.Arg772*					VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*	p.R772*			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2580	+			772					A8MZP1|Q9BT80|Q9BWH7	Nonsense_Mutation	SNP	ENST00000283713.6	37	c.2314C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730392	0.69074	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	3.14	3.14	0.36123	.	4.268040	0.00846	N	0.001781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	2.6977	10.0336	0.42116	0.0:1.0:0.0:0.0	.	.	.	.	X	772;772;758;490	.	ENSP00000283713:R772X	R	+	1	2	VILL	38023052	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.079000	0.11357	2.090000	0.63153	0.462000	0.41574	CGA		0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		16	392	0	0	0	1	0	16	392					T	38048048	C	T	38048048	4	4	79	1	0	0	0	0	0	1	0	0	17219	760	27	1	2384	1	VILL	3	38048048	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715	38048048	159974382	3890	14207											
PLCD1	5333	broad.mit.edu	37	chr3	38050075	38050075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccgttgtcctggaaGcggccctggtacacgtccat	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000334661.4	-	12	1998	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.R613R	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	592	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTCCTGGAAGCGGCCCTGGT	0.667																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1837-1839)cgC>cgT		phospholipase C, delta 1							57	61	59					3																	38050075		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050075G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1776C>T	3.37:g.38050075G>A						PLCD1_ENST00000334661.4_Silent_p.R592R	p.R613R	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	12	2192	-			592					B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.1839C>T	CCDS2671.1																																																																																				0.667	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			41	219	0	0	0	1	0	41	219					A	38050075	G	A	38050075	2	1	79	1	0	0	0	0	0	0	0	1	12073	958	34	2		2	PLCD1	3	38050075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	38050075	159972355	3891	14208											
DLEC1	9940	broad.mit.edu	37	chr3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgggtttttcacagaTtatgaaattggtccagttta	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTTCACAGATTATGAAATTG	0.378																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1147-1149)gaT>gaA		deleted in lung and esophageal cancer 1							173	163	166					3																	38105386		1835	4090	5925	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38105386T>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1149T>A	3.37:g.38105386T>A	ENSP00000308597:p.Asp383Glu					DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000469151.1_3'UTR	p.D383E			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	6	1170	+			383						Missense_Mutation	SNP	ENST00000308059.6	37	c.1149T>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471952	0.43942	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06608	3.29;3.28;3.51	4.67	3.52	0.40303	.	0.104304	0.64402	D	0.000006	T	0.07773	0.0195	L	0.53249	1.67	0.42793	D	0.993903	P;P;P;P	0.47604	0.811;0.898;0.735;0.898	B;B;B;B	0.43658	0.331;0.426;0.331;0.426	T	0.31779	-0.9931	10	0.33940	T	0.23	-13.2537	6.7698	0.23587	0.0:0.1057:0.0:0.8943	.	383;383;383;383	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	E	383	ENSP00000308597:D383E;ENSP00000315914:D383E;ENSP00000410427:D383E	ENSP00000308597:D383E	D	+	3	2	DLEC1	38080390	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.526000	0.22971	0.813000	0.34350	0.528000	0.53228	GAT		0.378	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		137	596	0	0	0	1	0	137	596					A	38105386	T	A	38105386	3	1	79	1	0	0	0	0	1	0	0	0	4568	1490	52	5	1171	5	DLEC1	3	38105386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55311	38105386	159917044	3892	14209											
DLEC1	9940	broad.mit.edu	37	chr3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggccccacaagccaGgacctgctgtgtgaaatcga	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAAGCCAGGACCTGCTGT	0.582																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2497-2499)caG>caT		deleted in lung and esophageal cancer 1							50	54	53					3																	38139062		1969	4162	6131	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139062G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2499G>T	3.37:g.38139062G>T	ENSP00000308597:p.Gln833His					DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H	p.Q833H			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	17	2520	+			833						Missense_Mutation	SNP	ENST00000308059.6	37	c.2499G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707812	0.30322	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.72	5.06	4.12	0.48240	.	0.751776	0.12452	U	0.467648	T	0.07188	0.0182	L	0.48642	1.525	0.26044	N	0.981565	B;B;B	0.25351	0.124;0.071;0.124	B;B;B	0.21360	0.034;0.03;0.031	T	0.12993	-1.0526	10	0.35671	T	0.21	-6.1338	9.7481	0.40459	0.0:0.1505:0.6946:0.1548	.	833;833;833	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	833	ENSP00000308597:Q833H;ENSP00000315914:Q833H;ENSP00000410427:Q833H	ENSP00000308597:Q833H	Q	+	3	2	DLEC1	38114066	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.496000	0.35638	2.357000	0.79964	0.558000	0.71614	CAG		0.582	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		22	267	1	0	2.98393e-07	1	3.0958e-07	22	267					T	38139062	G	T	38139062	3	4	79	1	0	0	0	0	1	0	0	0	4568	991	35	3	2565	3	DLEC1	3	38139062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33676	38139062	159883368	3893	14210											
DLEC1	9940	broad.mit.edu	37	chr3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatctggagaccgtcctgGagctggaggtggaaaatggt	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACCGTCCTGGAGCTGGAGGT	0.522																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2836-2838)Gag>Aag		deleted in lung and esophageal cancer 1							66	69	68					3																	38141888		1999	4157	6156	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38141888G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2836G>A	3.37:g.38141888G>A	ENSP00000308597:p.Glu946Lys					DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K	p.E946K			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	19	2857	+			946						Missense_Mutation	SNP	ENST00000308059.6	37	c.2836G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031665	0.75504	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.68	3.8	0.43715	.	0.134395	0.48286	D	0.000192	T	0.13798	0.0334	M	0.72894	2.215	0.38794	D	0.95504	P;P;D;P	0.58268	0.897;0.744;0.982;0.897	P;B;P;P	0.55055	0.625;0.196;0.767;0.625	T	0.18241	-1.0343	10	0.06891	T	0.86	-11.375	12.2875	0.54800	0.0861:0.0:0.9139:0.0	.	946;946;946;946	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	946	ENSP00000308597:E946K;ENSP00000315914:E946K;ENSP00000410427:E946K	ENSP00000308597:E946K	E	+	1	0	DLEC1	38116892	1.000000	0.71417	0.947000	0.38551	0.747000	0.42532	4.466000	0.60148	1.087000	0.41251	0.467000	0.42956	GAG		0.522	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		88	396	0	0	0	1	0	88	396					A	38141888	G	A	38141888	3	1	79	1	0	0	0	0	1	0	0	0	4568	1175	41	2	2910	2	DLEC1	3	38141888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	38141888	159880542	3894	14211											
DLEC1	9940	broad.mit.edu	37	chr3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcggaattcagccatgAaactgactcatcagtgagca	8	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGCCATGAAACTGACTCA	0.627																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4048-4050)gAa>gCa		deleted in lung and esophageal cancer 1							57	57	57					3																	38158136		1949	4133	6082	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158136A>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4049A>C	3.37:g.38158136A>C	ENSP00000308597:p.Glu1350Ala					DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A	p.E1350A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4070	+			1350						Missense_Mutation	SNP	ENST00000308059.6	37	c.4049A>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227715	0.06022	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05447	3.46;3.44;3.68	4.65	0.865	0.19074	.	1.823620	0.02868	N	0.131149	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.09084	T	0.74	0.0041	6.243	0.20801	0.4328:0.456:0.1112:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1350;1350;1353	ENSP00000308597:E1350A;ENSP00000315914:E1350A;ENSP00000410427:E1353A	ENSP00000308597:E1350A	E	+	2	0	DLEC1	38133140	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.352000	0.20113	0.302000	0.22762	0.260000	0.18958	GAA		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		94	385	0	0	0	1	0	94	385					C	38158136	A	C	38158136	3	2	79	1	0	0	0	0	1	0	0	0	4568	246	9	4	4159	4	DLEC1	3	38158136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16248	38158136	159864294	3895	14212											
DLEC1	30	broad.mit.edu	37	chr3	38163660	38163660	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacccccaacctccatcGccttgcaggttttcttcact	5	17	2	0	rs574902581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38163660G>A	ENST00000333167.8	-	0	1785				ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Missense_Mutation_p.A1707T|DLEC1_ENST00000346219.3_Intron|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AACCTCCATCGCCTTGCAGGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17557	0.0		0.0	False		,,,				2504	0.001					ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(5119-5121)Gcc>Acc		deleted in lung and esophageal cancer 1							59	69	66					3																	38163660		2059	4190	6249	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163660G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163660G>A						DLEC1_ENST00000346219.3_Intron|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T	p.A1707T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	36	5140	+			1707					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.5119G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.514910	0.04200	.	.	ENSG00000008226	ENST00000308059;ENST00000452631	T;T	0.04502	3.61;3.84	4.86	-0.709	0.11237	.	.	.	.	.	T	0.01627	0.0052	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.49031	-0.8981	9	0.12766	T	0.61	.	5.8206	0.18526	0.2946:0.4557:0.2498:0.0	.	1710;1707;1707	F8W6T4;B7ZW06;Q9Y238	.;.;DLEC1_HUMAN	T	1707;1710	ENSP00000308597:A1707T;ENSP00000410427:A1710T	ENSP00000308597:A1707T	A	+	1	0	DLEC1	38138664	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.283000	0.18846	-0.391000	0.07763	-0.367000	0.07326	GCC		0.632	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		46	230	0	0	0	1	0	46	230					A	38163660	G	A	38163660	1	1	79	0	1	0	0	0	0	0	0	0	4568	1087	38	1		1	DLEC1	3	38163660	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5524	38163660	159858770	3896	14213											
ACAA1	30	broad.mit.edu	37	chr3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgccccggccccaggctGcagcacatttcctgtggaca	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	93					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCCAGGCTGCAGCACATTT	0.512																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(277-279)Cag>Tag		acetyl-CoA acyltransferase 1							64	66	65					3																	38175489		2203	4300	6503	SO:0001587	stop_gained	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38175489G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.277C>T	3.37:g.38175489G>A	ENSP00000333664:p.Gln93*					ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*	p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	3	449	-			93					G5E935|Q96CA6	Nonsense_Mutation	SNP	ENST00000333167.8	37	c.277C>T	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620698	0.97709	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	5.58	0.84498	.	0.128735	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.4369	19.5262	0.95208	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;25;93	.	ENSP00000301810:Q93X	Q	-	1	0	ACAA1	38150493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.778000	0.95560	0.655000	0.94253	CAG		0.512	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		61	230	0	0	0	1	0	61	230					A	38175489	G	A	38175489	4	1	79	1	0	0	0	0	0	1	0	0	104	1328	46	2	1037	2	ACAA1	3	38175489	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11829	38175489	159846941	3897	14214											
OXSR1	9943	broad.mit.edu	37	chr3	38292919	38292919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggtgtctctcaggaActcatttctgctggcctggt	13	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478																																						ENST00000311806.3																			0				skin(1)	1						c.(1399-1401)gaA>gaG		oxidative stress responsive 1							326	292	304					3																	38292919		2203	4300	6503	SO:0001819	synonymous_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292919A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1401A>G	3.37:g.38292919A>G							p.E467E	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1773	+			467						Silent	SNP	ENST00000311806.3	37	c.1401A>G	CCDS2675.1																																																																																				0.478	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		230	941	0	0	0	1	0	230	941					G	38292919	A	G	38292919	2	3	79	1	0	0	0	0	0	0	0	1	11378	40	2	4		4	OXSR1	3	38292919	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117430	38292919	159729511	3898	14215											
XYLB	9942	broad.mit.edu	37	chr3	38408309	38408309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccagcgttttacagGgaaccaaattgcaaaaattt	6	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	ENST00000207870.3	+	7	608	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	173					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CGTTTTACAGGGAACCAAATT	0.393																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(517-519)gGg>gAg		xylulokinase homolog (H. influenzae)							80	81	81					3																	38408309		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38408309G>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.518G>A	3.37:g.38408309G>A	ENSP00000207870:p.Gly173Glu					XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	p.G173E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	7	608	+			173					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.518G>A	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.716084	0.89205	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	Carbohydrate kinase, FGGY, N-terminal (1);	0.061528	0.64402	D	0.000003	T	0.76535	0.4001	M	0.92970	3.365	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82196	-0.0577	10	0.87932	D	0	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	36;173	B4DDT2;O75191	.;XYLB_HUMAN	E	173;36	ENSP00000207870:G173E;ENSP00000443659:G36E	ENSP00000207870:G173E	G	+	2	0	XYLB	38383313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.727000	0.93392	0.550000	0.68814	GGG		0.393	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		49	261	0	0	0	1	0	49	261					A	38408309	G	A	38408309	3	1	79	1	0	0	0	0	1	0	0	0	17516	1232	43	2	544	2	XYLB	3	38408309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115390	38408309	159614121	3899	14216											
ACVR2B	93	broad.mit.edu	37	chr3	38524754	38524754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcaacggcactacctcGgactgtctcgtttccctggt	10	14	2	0	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	490					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		12203	0.0		0.001	False		,,,				2504	0.0					ENST00000352511.3																			0				lung(1)	1						c.(1468-1470)tcG>tcA		activin A receptor, type IIB		G		1,4405	2.1+/-5.4	0,1,2202	181	151	161		1470	4.2	1	3	dbSNP_127	161	0,8600		0,0,4300	no	coding-synonymous	ACVR2B	NM_001106.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		490/513	38524754	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38524754G>A	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1470G>A	3.37:g.38524754G>A							p.S490S	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	11	1942	+	Medulloblastoma(35;0.163)		490					Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.1470G>A	CCDS2679.1																																																																																				0.592	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		111	434	0	0	0	1	0	111	434					A	38524754	G	A	38524754	2	1	79	1	0	0	0	0	0	0	0	1	224	1103	39	1		1	ACVR2B	3	38524754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116445	38524754	159497676	3900	14217											
SCN5A	6331	broad.mit.edu	37	chr3	38595864	38595864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttgacaatacactcGcctgtgaagatggccacaaa	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000333535.4	-	27	4868	c.4719C>T	c.(4717-4719)ggC>ggT	p.G1573G	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000455624.2_Splice_Site			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1573					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATACACTCGCCTGTGAAGA	0.498																																						ENST00000455624.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.e26+1		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						146	158	154					3																	38595864		2118	4257	6375	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595864G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4719C>T	3.37:g.38595864G>A						SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000333535.4_Silent_p.G1573G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000414099.2_Silent_p.G1555G				Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	4739	-	Medulloblastoma(35;0.163)							A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Splice_Site	SNP	ENST00000333535.4	37		CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028857	0.35797	.	.	ENSG00000183873	ENST00000455624	.	.	.	3.69	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0242	0.09680	0.0946:0.1736:0.5766:0.1552	.	.	.	.	.	-1	.	.	.	-	.	.	SCN5A	38570868	0.398000	0.25279	1.000000	0.80357	0.910000	0.53928	0.158000	0.16422	0.736000	0.32559	0.462000	0.41574	.		0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		77	323	0	0	0	1	0	77	323					A	38595864	G	A	38595864	2	1	79	1	0	0	0	0	0	0	0	1	13972	1101	38	1		1	SCN5A	3	38595864	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71110	38595864	159426566	3901	14218											
SCN5A	6331	broad.mit.edu	37	chr3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacggagtgcacgcagcGtccgcagtgacttgatgggg	18	9	0	2	rs199473603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000333535.4	-	22	4060	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1304			T -> M (in LQT3). {ECO:0000269|PubMed:10508990}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCACGCAGCGTCCGCAGTGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		21383	0.0		0.001	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM992663	SCN5A	M		c.(3910-3912)aCg>aTg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4175		0,1,2087	41	44	43		3908,3911,3911,3908,3749,3911	4	0.9	3		43	4,8464		0,4,4230	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	81,81,81,81,81,81	0,5,6317	AA,AG,GG		0.0472,0.0239,0.0395	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/2016,1304/2017,1304/1999,1303/1984,1250/1963,1304/2017	38603958	5,12639	2088	4234	6322	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38603958G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3911C>T	3.37:g.38603958G>A	ENSP00000328968:p.Thr1304Met					SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M	p.T1304M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	22	4104	-	Medulloblastoma(35;0.163)		1304		T -> M (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3911C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001180	0.54254	2.39E-4	4.72E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94503	3.545	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.988	D	0.98908	1.0779	10	0.87932	D	0	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	1250;1303;1304;1304;1304;1303;1304	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1304;1303;1304;1250;1303;1304;1304;1303;1250;1250	ENSP00000398962:T1304M;ENSP00000398266:T1303M;ENSP00000410257:T1304M;ENSP00000388797:T1250M;ENSP00000397915:T1303M;ENSP00000416634:T1304M;ENSP00000328968:T1304M;ENSP00000399524:T1303M;ENSP00000403355:T1250M;ENSP00000413996:T1250M	ENSP00000328968:T1304M	T	-	2	0	SCN5A	38578962	1.000000	0.71417	0.890000	0.34922	0.068000	0.16541	9.657000	0.98554	2.105000	0.64084	0.655000	0.94253	ACG		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		17	108	0	0	0	1	0	17	108					A	38603958	G	A	38603958	3	1	79	1	0	0	0	0	1	0	0	0	13972	1145	40	1	2167	1	SCN5A	3	38603958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8094	38603958	159418472	3902	14219											
SCN5A	6331	broad.mit.edu	37	chr3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccaggagggtaccaGcgctccactgctgagtagga	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000333535.4	-	20	3813	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1222					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGGTACCAGCGCTCCACTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3664-3666)Ctg>Atg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						37	39	38					3																	38616790		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38616790G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3664C>A	3.37:g.38616790G>T	ENSP00000328968:p.Leu1222Met					SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M	p.L1222M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3857	-	Medulloblastoma(35;0.163)		1222					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3664C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900162	0.72754	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.21	4.21	0.49690	.	0.165085	0.41938	D	0.000789	D	0.98704	0.9565	M	0.86268	2.805	0.47476	D	0.999433	D;D;P;P;D;D;D	0.76494	0.991;0.994;0.942;0.699;0.999;0.998;0.983	D;P;P;B;D;D;P	0.77557	0.972;0.832;0.805;0.425;0.974;0.99;0.865	D	0.99647	1.0990	10	0.87932	D	0	.	16.7305	0.85433	0.0:0.0:1.0:0.0	.	1168;1221;1222;1222;1222;1221;1222	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1222;1221;1222;1168;1221;1222;1222;1221;1168;1168	ENSP00000398962:L1222M;ENSP00000398266:L1221M;ENSP00000410257:L1222M;ENSP00000388797:L1168M;ENSP00000397915:L1221M;ENSP00000416634:L1222M;ENSP00000328968:L1222M;ENSP00000399524:L1221M;ENSP00000403355:L1168M;ENSP00000413996:L1168M	ENSP00000328968:L1222M	L	-	1	2	SCN5A	38591794	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.586000	0.74067	2.356000	0.79943	0.655000	0.94253	CTG		0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		12	66	1	0	6.72482e-11	1	7.15107e-11	12	66					T	38616790	G	T	38616790	3	4	79	1	0	0	0	0	1	0	0	0	13972	962	34	3	2422	3	SCN5A	3	38616790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12832	38616790	159405640	3903	14220											
SCN5A	6331	broad.mit.edu	37	chr3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcgccttcctcaaaccGtgtttccttgcgggtgggag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000333535.4	-	17	3228	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1027			R -> Q. {ECO:0000269|PubMed:1309946, ECO:0000269|PubMed:16616735, ECO:0000269|Ref.6}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTCAAACCGTGTTTCCTTG	0.667																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3079-3081)Cgg>Tgg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						32	33	32					3																	38622571		1999	4159	6158	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622571G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3079C>T	3.37:g.38622571G>A	ENSP00000328968:p.Arg1027Trp					SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W	p.R1027W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3272	-	Medulloblastoma(35;0.163)		1027		R -> Q.			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3079C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956688	0.34565	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.12	1.9	0.25705	Sodium ion transport-associated (1);	1.256210	0.05875	N	0.625338	D	0.88916	0.6567	L	0.59436	1.845	0.09310	N	1	B;D;D;D;D;D;D	0.89917	0.027;0.999;1.0;1.0;1.0;0.999;1.0	B;D;D;D;D;P;D	0.81914	0.019;0.96;0.992;0.995;0.981;0.837;0.967	T	0.73116	-0.4084	10	0.72032	D	0.01	.	8.8191	0.35014	0.0748:0.0:0.4916:0.4336	.	1027;1027;1027;1027;1027;1027;1027	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1027	ENSP00000398962:R1027W;ENSP00000398266:R1027W;ENSP00000410257:R1027W;ENSP00000388797:R1027W;ENSP00000397915:R1027W;ENSP00000416634:R1027W;ENSP00000328968:R1027W;ENSP00000399524:R1027W;ENSP00000403355:R1027W;ENSP00000413996:R1027W	ENSP00000328968:R1027W	R	-	1	2	SCN5A	38597575	0.000000	0.05858	0.484000	0.27391	0.419000	0.31324	0.408000	0.21065	0.529000	0.28599	0.561000	0.74099	CGG		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		40	133	0	0	0	1	0	40	133					A	38622571	G	A	38622571	3	1	79	1	0	0	0	0	1	0	0	0	13972	1144	40	1	3019	1	SCN5A	3	38622571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5781	38622571	159399859	3904	14221											
SCN5A	6331	broad.mit.edu	37	chr3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctgtcctcatcagggGctgtgaggttgtctgcactg	12	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000333535.4	-	17	2995	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	949					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCATCAGGGGCTGTGAGGTT	0.582																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2845-2847)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						36	39	38					3																	38622804		2122	4259	6381	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622804G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2846C>T	3.37:g.38622804G>A	ENSP00000328968:p.Ala949Val					SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V	p.A949V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3039	-	Medulloblastoma(35;0.163)		949					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2846C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543967	0.86022	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96716	-4.01;-4.04;-4.04;-4.02;-4.04;-4.01;-4.04;-4.1;-4.02;-4.02	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996;1.0	D;D;D;D;D;P;D	0.85130	0.994;0.985;0.997;0.994;0.994;0.834;0.997	D	0.98974	1.0802	10	0.62326	D	0.03	.	17.6188	0.88075	0.0:0.0:1.0:0.0	.	949;949;949;949;949;949;949	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	949	ENSP00000398962:A949V;ENSP00000398266:A949V;ENSP00000410257:A949V;ENSP00000388797:A949V;ENSP00000397915:A949V;ENSP00000416634:A949V;ENSP00000328968:A949V;ENSP00000399524:A949V;ENSP00000403355:A949V;ENSP00000413996:A949V	ENSP00000328968:A949V	A	-	2	0	SCN5A	38597808	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.500000	0.73687	2.399000	0.81585	0.655000	0.94253	GCC		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		31	90	0	0	0	1	0	31	90					A	38622804	G	A	38622804	3	1	79	1	0	0	0	0	1	0	0	0	13972	1203	42	2	3252	2	SCN5A	3	38622804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	38622804	159399626	3905	14222											
SCN5A	6331	broad.mit.edu	37	chr3	38639378	38639378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgatggacatccacaGcgggcagcactcccagatca	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000333535.4	-	14	2253	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	702					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GACATCCACAGCGGGCAGCAC	0.557																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2104-2106)Ctg>Ttg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						131	135	134					3																	38639378		2147	4255	6402	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639378G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2104C>T	3.37:g.38639378G>A						SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000333535.4_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L	p.L702L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2297	-	Medulloblastoma(35;0.163)		702					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2104C>T	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		12	469	0	0	0	1	0	12	469					A	38639378	G	A	38639378	2	1	79	1	0	0	0	0	0	0	0	1	13972	962	34	2		2	SCN5A	3	38639378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	38639378	159383052	3906	14223											
SCN5A	6331	broad.mit.edu	37	chr3	38645261	38645261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcttcctggggatgtgGcctctgggtcgcctgccccc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38645261G>A	ENST00000333535.4	-	12	1981	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	SCN5A_ENST00000413689.1_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	611					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGGATGTGGCCTCTGGGTC	0.647																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1831-1833)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						46	50	48					3																	38645261		2055	4201	6256	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645261G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1832C>T	3.37:g.38645261G>A	ENSP00000328968:p.Ala611Val					SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V	p.A611V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	2025	-	Medulloblastoma(35;0.163)		611					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1832C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919858	0.33908	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.829884	0.10873	N	0.624714	D	0.87341	0.6153	L	0.34521	1.04	0.35038	D	0.759426	B;P;B;B;P;P;P	0.44627	0.042;0.684;0.137;0.042;0.631;0.688;0.839	B;B;B;B;B;B;B	0.43536	0.062;0.423;0.085;0.098;0.328;0.218;0.423	D	0.85654	0.1284	10	0.18276	T	0.48	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	611;611;611;611;611;611;611	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	611	ENSP00000398962:A611V;ENSP00000398266:A611V;ENSP00000410257:A611V;ENSP00000388797:A611V;ENSP00000397915:A611V;ENSP00000416634:A611V;ENSP00000328968:A611V;ENSP00000399524:A611V;ENSP00000403355:A611V;ENSP00000413996:A611V	ENSP00000328968:A611V	A	-	2	0	SCN5A	38620265	1.000000	0.71417	0.992000	0.48379	0.667000	0.39255	7.334000	0.79224	2.164000	0.68074	0.561000	0.74099	GCC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	390	0	0	0	1	0	7	390					A	38645261	G	A	38645261	3	1	79	1	0	0	0	0	1	0	0	0	13972	1203	42	2	4286	2	SCN5A	3	38645261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5883	38645261	159377169	3907	14224											
SCN5A	6331	broad.mit.edu	37	chr3	38647544	38647544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcctcataggccattgcGaccacggccaggatcaggtt	11	13	2	0	rs45565936	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000333535.4	-	10	1385	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	412					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGCCATTGCGACCACGGCCA	0.542													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1234-1236)gtC>gtT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	,,,,,	25,4115		0,25,2045	80	84	83		1236,1236,1236,1236,1236,1236	-6.6	0.9	3	dbSNP_127	83	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,25,6251	AA,AG,GG		0.0,0.6039,0.1992	,,,,,	412/2016,412/2017,412/1999,412/1984,412/1963,412/2017	38647544	25,12527	2070	4206	6276	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38647544G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1236C>T	3.37:g.38647544G>A						SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000333535.4_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V	p.V412V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1429	-	Medulloblastoma(35;0.163)		412					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1236C>T	CCDS46796.1																																																																																				0.542	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		75	235	0	0	0	1	0	75	235					A	38647544	G	A	38647544	2	1	79	1	0	0	0	0	0	0	0	1	13972	1045	37	1		1	SCN5A	3	38647544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2283	38647544	159374886	3908	14225											
SCN10A	6336	broad.mit.edu	37	chr3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatgtcgtcgatgccaGcctcccacctcacatgggga	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1636					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTCGATGCCAGCCTCCCACCT	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4906-4908)gCt>gTt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						178	165	169					3																	38739804		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739804G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4907C>T	3.37:g.38739804G>A	ENSP00000390600:p.Ala1636Val						p.A1636V	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4906	-			1636					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4907C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696607	0.48202	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	5.27	5.27	0.74061	Ion transport (1);	0.192153	0.42964	D	0.000638	D	0.95689	0.8598	L	0.49640	1.575	0.38361	D	0.944602	P	0.42827	0.791	B	0.40066	0.318	D	0.93623	0.6949	10	0.20519	T	0.43	.	8.7982	0.34892	0.0786:0.0:0.7599:0.1615	.	1636	Q9Y5Y9	SCNAA_HUMAN	V	1636	ENSP00000390600:A1636V	ENSP00000390600:A1636V	A	-	2	0	SCN10A	38714808	0.052000	0.20516	0.985000	0.45067	0.640000	0.38277	0.683000	0.25349	2.742000	0.94016	0.655000	0.94253	GCT		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		150	602	0	0	0	1	0	150	602					A	38739804	G	A	38739804	3	1	79	1	0	0	0	0	1	0	0	0	13962	971	34	2	967	2	SCN10A	3	38739804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92260	38739804	159282626	3909	14226											
SCN10A	6336	broad.mit.edu	37	chr3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggccaattcgggccaggcgg	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCTGAGGATGCGGCCAATTCG	0.522																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4744-4746)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						92	90	91					3																	38739966		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739966C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4745G>A	3.37:g.38739966C>T	ENSP00000390600:p.Arg1582His						p.R1582H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4744	-			1582					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4745G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	SCN10A	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	611	0	0	0	1	0	23	611					T	38739966	C	T	38739966	3	4	79	1	0	0	0	0	1	0	0	0	13962	768	27	1	1129	1	SCN10A	3	38739966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	38739966	159282464	3910	14227											
SCN10A	6336	broad.mit.edu	37	chr3	38752374	38752374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacataatgtccatccaGcctttaaaggttgcctggag	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1368					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTCCATCCAGCCTTTAAAGG	0.542																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4102-4104)ggC>ggT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						102	87	92					3																	38752374		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38752374G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4104C>T	3.37:g.38752374G>A							p.G1368G	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	23	4103	-			1368					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4104C>T	CCDS33736.1																																																																																				0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	103	0	0	0	1	0	17	103					A	38752374	G	A	38752374	2	1	79	1	0	0	0	0	0	0	0	1	13962	958	34	2		2	SCN10A	3	38752374	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12408	38752374	159270056	3911	14228											
SCN10A	6336	broad.mit.edu	37	chr3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacattgacccagaagaagCtgccagtggagttttgaatc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGAAGAAGCTGCCAGTGGA	0.428																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4018-4020)aGc>aAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						119	116	117					3																	38753722		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753722C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4019G>A	3.37:g.38753722C>T	ENSP00000390600:p.Ser1340Asn						p.S1340N	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	4018	-			1340					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4019G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522538	0.13066	.	.	ENSG00000185313	ENST00000449082	D	0.98493	-4.96	4.37	-6.51	0.01878	Ion transport (1);	1.098550	0.06870	N	0.800618	D	0.86171	0.5869	N	0.00191	-1.88	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	D	0.83562	0.0107	10	0.21540	T	0.41	.	6.5023	0.22176	0.0:0.2823:0.3314:0.3862	.	1340	Q9Y5Y9	SCNAA_HUMAN	N	1340	ENSP00000390600:S1340N	ENSP00000390600:S1340N	S	-	2	0	SCN10A	38728726	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.875000	0.01634	-1.092000	0.03062	-0.378000	0.06908	AGC		0.428	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		81	461	0	0	0	1	0	81	461					T	38753722	C	T	38753722	3	4	79	1	0	0	0	0	1	0	0	0	13962	797	28	2	1875	2	SCN10A	3	38753722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1348	38753722	159268708	3912	14229											
SCN10A	6336	broad.mit.edu	37	chr3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgccagcccacatcCcatggactcttggtggtatc	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1135					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCCCACATCCCATGGACTCT	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3403-3405)tgG>tgA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167	142	151					3																	38763851		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763851C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3405G>A	3.37:g.38763851C>T	ENSP00000390600:p.Trp1135*						p.W1135*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3404	-			1135					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.3405G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.873866	0.97901	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	3.29	0.37713	.	0.491076	0.21418	N	0.074877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.4099	0.16342	0.0:0.635:0.2138:0.1512	.	.	.	.	X	1135	.	ENSP00000390600:W1135X	W	-	3	0	SCN10A	38738855	0.124000	0.22315	0.278000	0.24718	0.150000	0.21749	0.365000	0.20348	2.221000	0.72209	0.561000	0.74099	TGG		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		106	488	0	0	0	1	0	106	488					T	38763851	C	T	38763851	4	4	79	1	0	0	0	0	0	1	0	0	13962	624	22	2	2501	2	SCN10A	3	38763851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10129	38763851	159258579	3913	14230											
SCN10A	6336	broad.mit.edu	37	chr3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggataactcttacctgtcCtttggggatcacttcctgct	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1028					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTACCTGTCCTTTGGGGATC	0.542																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3082-3084)Gga>Tga		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						72	62	66					3																	38768102		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768102C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3082G>T	3.37:g.38768102C>A	ENSP00000390600:p.Gly1028*						p.G1028*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	3081	-			1028					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.3082G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820651	0.97861	.	.	ENSG00000185313	ENST00000449082	.	.	.	3.84	0.00718	0.14070	.	5.998850	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.2493	0.26140	0.0:0.4287:0.0:0.5713	.	.	.	.	X	1028	.	ENSP00000390600:G1028X	G	-	1	0	SCN10A	38743106	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	0.116000	0.15561	-0.014000	0.14175	0.655000	0.94253	GGA		0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		53	214	1	0	3.76525e-18	1	4.17087e-18	53	214					A	38768102	C	A	38768102	4	1	79	1	0	0	0	0	0	1	0	0	13962	690	24	3	2836	3	SCN10A	3	38768102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	38768102	159254328	3914	14231											
SCN10A	6336	broad.mit.edu	37	chr3	38768406	38768406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaagctgcaaagagcCtgtttggtacgatggccaaa	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768406C>T	ENST00000449082.2	-	16	2777	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	926					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGCAAAGAGCCTGTTTGGTAC	0.602																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2776-2778)caG>caA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						114	112	112					3																	38768406		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768406C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2778G>A	3.37:g.38768406C>T							p.Q926Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2777	-			926					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2778G>A	CCDS33736.1																																																																																				0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	649	0	0	0	1	0	23	649					T	38768406	C	T	38768406	2	4	79	1	0	0	0	0	0	0	0	1	13962	680	24	2		2	SCN10A	3	38768406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	38768406	159254024	3915	14232											
SCN10A	6336	broad.mit.edu	37	chr3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggccagcttgaatAcgcgcagctgcagagaaaca	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	763					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGCTTGAATACGCGCAGCTG	0.493																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2287-2289)gTa>gCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						89	90	90					3																	38770385		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770385A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2288T>C	3.37:g.38770385A>G	ENSP00000390600:p.Val763Ala						p.V763A	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2287	-			763					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2288T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234726	0.79800	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.85630	2.765	0.54753	D	0.999984	P	0.52170	0.951	P	0.48770	0.589	D	0.98897	1.0775	10	0.87932	D	0	.	14.5588	0.68120	1.0:0.0:0.0:0.0	.	763	Q9Y5Y9	SCNAA_HUMAN	A	763	ENSP00000390600:V763A	ENSP00000390600:V763A	V	-	2	0	SCN10A	38745389	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.083000	0.94067	2.028000	0.59812	0.533000	0.62120	GTA		0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		64	277	0	0	0	1	0	64	277					G	38770385	A	G	38770385	3	3	79	1	0	0	0	0	1	0	0	0	13962	391	14	4	3634	4	SCN10A	3	38770385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1979	38770385	159252045	3916	14233											
SCN10A	6336	broad.mit.edu	37	chr3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaaacattaccaagCggaagctccgcagcacagac	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	759					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATTACCAAGCGGAAGCTCCG	0.547																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2275-2277)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						51	48	49					3																	38781010		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781010C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2276G>A	3.37:g.38781010C>T	ENSP00000390600:p.Arg759His						p.R759H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2275	-			759					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2276G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016405	0.93404	.	.	ENSG00000185313	ENST00000449082	D	0.98822	-5.16	4.19	4.19	0.49359	Ion transport (1);	0.116150	0.53938	D	0.000044	D	0.99551	0.9839	H	0.99273	4.495	0.49798	D	0.999823	D	0.89917	1.0	D	0.91635	0.999	D	0.97485	1.0050	10	0.87932	D	0	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	759	Q9Y5Y9	SCNAA_HUMAN	H	759	ENSP00000390600:R759H	ENSP00000390600:R759H	R	-	2	0	SCN10A	38756014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.823000	0.69272	2.174000	0.68829	0.655000	0.94253	CGC		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		43	205	0	0	0	1	0	43	205					T	38781010	C	T	38781010	3	4	79	1	0	0	0	0	1	0	0	0	13962	768	27	1	3650	1	SCN10A	3	38781010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10625	38781010	159241420	3917	14234											
SCN10A	6336	broad.mit.edu	37	chr3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaatgattttgaagacCatttcagcagtaaaaaatat	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTTGAAGACCATTTCAGCAG	0.433																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.M712I(1)	lung(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2134-2136)atG>atA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						59	56	57					3																	38781150		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781150C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2136G>A	3.37:g.38781150C>T	ENSP00000390600:p.Met712Ile						p.M712I	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2135	-			712					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2136G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530513	0.85706	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	SCN10A	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG		0.433	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		40	233	0	0	0	1	0	40	233					T	38781150	C	T	38781150	3	4	79	1	0	0	0	0	1	0	0	0	13962	594	21	2	3790	2	SCN10A	3	38781150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	38781150	159241280	3918	14235											
SCN10A	6336	broad.mit.edu	37	chr3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacaaactcaccgagacatCgacagctccaggggcaagct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCGAGACATCGACAGCTCCA	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1747-1749)Gat>Aat		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129	128	128					3																	38793718		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793718C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1747G>A	3.37:g.38793718C>T	ENSP00000390600:p.Asp583Asn						p.D583N	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1746	-			583					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1747G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546846	0.27652	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.31	4.31	0.51392	.	6.498510	0.00447	N	0.000092	D	0.90707	0.7084	N	0.08118	0	0.20403	N	0.9999	B	0.15930	0.015	B	0.08055	0.003	T	0.76974	-0.2760	10	0.35671	T	0.21	.	12.5849	0.56412	0.0:1.0:0.0:0.0	.	583	Q9Y5Y9	SCNAA_HUMAN	N	583	ENSP00000390600:D583N	ENSP00000390600:D583N	D	-	1	0	SCN10A	38768722	0.452000	0.25713	0.624000	0.29186	0.300000	0.27592	3.018000	0.49625	2.689000	0.91719	0.462000	0.41574	GAT		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		62	349	0	0	0	1	0	62	349					T	38793718	C	T	38793718	3	4	79	1	0	0	0	0	1	0	0	0	13962	884	31	1	4191	1	SCN10A	3	38793718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12568	38793718	159228712	3919	14236											
SCN10A	6336	broad.mit.edu	37	chr3	38798295	38798295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatcaagttgaccaggTagaaagatcccaggaagatt	10	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38798295T>C	ENST00000449082.2	-	9	1159	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	387					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTTGACCAGGTAGAAAGATCC	0.453																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1159-1161)tAc>tGc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						138	136	137					3																	38798295		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798295T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1160A>G	3.37:g.38798295T>C	ENSP00000390600:p.Tyr387Cys						p.Y387C	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1159	-			387					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1160A>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232065	0.79688	.	.	ENSG00000185313	ENST00000449082	D	0.98649	-5.05	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95365	3.66	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	387	Q9Y5Y9	SCNAA_HUMAN	C	387	ENSP00000390600:Y387C	ENSP00000390600:Y387C	Y	-	2	0	SCN10A	38773299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	TAC		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		13	736	0	0	0	1	0	13	736					C	38798295	T	C	38798295	3	2	79	1	0	0	0	0	1	0	0	0	13962	1638	57	4	4786	4	SCN10A	3	38798295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4577	38798295	159224135	3920	14237											
SCN11A	11280	broad.mit.edu	37	chr3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgtacatgttgacaAcaatgagaaaggagatgata	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1595					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTTGACAACAATGAGAAA	0.393																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4783-4785)gTt>gCt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						130	128	128					3																	38888777		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888777A>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4784T>C	3.37:g.38888777A>G	ENSP00000307599:p.Val1595Ala					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A	p.V1595A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4982	-			1595					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4784T>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572899	0.86542	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98717	-5.09;-5.09;-5.09	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	.	15.2886	0.73849	1.0:0.0:0.0:0.0	.	1595	Q9UI33	SCNBA_HUMAN	A	1595;1595;1557	ENSP00000307599:V1595A;ENSP00000400945:V1595A;ENSP00000416757:V1557A	ENSP00000307599:V1595A	V	-	2	0	SCN11A	38863781	1.000000	0.71417	0.772000	0.31596	0.988000	0.76386	9.317000	0.96327	2.006000	0.58801	0.362000	0.22060	GTT		0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		101	388	0	0	0	1	0	101	388					G	38888777	A	G	38888777	3	3	79	1	0	0	0	0	1	0	0	0	13963	43	2	4	595	4	SCN11A	3	38888777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90482	38888777	159133653	3921	14238											
SCN11A	11280	broad.mit.edu	37	chr3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtatttaccataagcttCcgggttactgatatttttac	8	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	295					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATAAGCTTCCGGGTTACTG	0.448																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(883-885)Gaa>Aaa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						238	248	245					3																	38962576		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962576C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.883G>A	3.37:g.38962576C>T	ENSP00000307599:p.Glu295Lys					SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K	p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	1081	-			295					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.883G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507760	0.12883	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96396	-4.0;-4.0;-3.95;-3.86	3.66	-7.31	0.01441	Ion transport (1);	2582.250000	0.00166	N	0.000001	D	0.90130	0.6916	L	0.31476	0.935	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	D	0.84111	0.0401	10	0.20519	T	0.43	.	2.0681	0.03607	0.1205:0.1779:0.2383:0.4633	.	295	Q9UI33	SCNBA_HUMAN	K	295	ENSP00000307599:E295K;ENSP00000400945:E295K;ENSP00000416757:E295K;ENSP00000408028:E295K	ENSP00000307599:E295K	E	-	1	0	SCN11A	38937580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-2.422000	0.00563	0.447000	0.29281	GAA		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		292	1324	0	0	0	1	0	292	1324					T	38962576	C	T	38962576	3	4	79	1	0	0	0	0	1	0	0	0	13963	864	30	2	4576	2	SCN11A	3	38962576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73799	38962576	159059854	3922	14239											
WDR48	57599	broad.mit.edu	37	chr3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaagaacatgtgcaaaaCtaatgaagcttaaagggcac	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	203					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)Cta>Ata		WD repeat domain 48							161	153	156					3																	39111170		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39111170C>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.607C>A	3.37:g.39111170C>A	ENSP00000307491:p.Leu203Ile					WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I	p.L203I	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	635	+			203					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.607C>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830680	0.50845	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.61859	2.18;2.17;0.07	5.69	2.83	0.33086	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	0.40670	0.1126	L	0.28014	0.82	0.80722	D	1	B;B;B	0.18610	0.012;0.029;0.027	B;B;B	0.19666	0.015;0.023;0.026	T	0.14309	-1.0477	10	0.22109	T	0.4	-2.2119	10.1084	0.42548	0.0:0.7781:0.0:0.2219	.	121;194;203	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	I	203;121;133	ENSP00000307491:L203I;ENSP00000379557:L121I;ENSP00000416900:L133I	ENSP00000307491:L203I	L	+	1	2	WDR48	39086174	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	3.343000	0.52167	0.822000	0.34565	0.655000	0.94253	CTA		0.353	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		86	418	1	0	1.41219e-46	1	1.73556e-46	86	418					A	39111170	C	A	39111170	3	1	79	1	0	0	0	0	1	0	0	0	17355	564	20	3	633	3	WDR48	3	39111170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148594	39111170	158911260	3923	14240											
WDR48	57599	broad.mit.edu	37	chr3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggcagttctgatgggAcaattcgcctttggtccctt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	233					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(697-699)Aca>Gca		WD repeat domain 48							129	108	115					3																	39116241		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39116241A>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.697A>G	3.37:g.39116241A>G	ENSP00000307491:p.Thr233Ala					WDR48_ENST00000544962.1_Missense_Mutation_p.T25A|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A	p.T233A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	725	+			233					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.697A>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	34	5.361411	0.95877	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.69435	-0.4;1.94;-0.4	5.86	5.86	0.93980	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	0.81744	0.4887	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.56035	0.974;0.63;0.825;0.791	D;B;B;B	0.67725	0.953;0.287;0.394;0.41	D	0.83733	0.0199	10	0.66056	D	0.02	1.7488	16.2644	0.82568	1.0:0.0:0.0:0.0	.	25;151;224;233	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	A	233;25;151	ENSP00000307491:T233A;ENSP00000445187:T25A;ENSP00000379557:T151A	ENSP00000307491:T233A	T	+	1	0	WDR48	39091245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA		0.483	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		59	269	0	0	0	1	0	59	269					G	39116241	A	G	39116241	3	3	79	1	0	0	0	0	1	0	0	0	17355	275	10	4	727	4	WDR48	3	39116241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5071	39116241	158906189	3924	14241											
WDR48	57599	broad.mit.edu	37	chr3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actattactttggatgaaagTgattgttttgctgcctgggt	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	436					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGATGAAAGTGATTGTTTTG	0.358																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1306-1308)agT>agG		WD repeat domain 48							92	91	91					3																	39126162		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39126162T>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1308T>G	3.37:g.39126162T>G	ENSP00000307491:p.Ser436Arg					WDR48_ENST00000544962.1_Missense_Mutation_p.S161R|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R	p.S436R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1336	+			436					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1308T>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89343	1.07;-2.5;0.79	5.61	0.0116	0.14088	.	0.040621	0.85682	D	0.000000	D	0.86920	0.6049	L	0.44542	1.39	0.80722	D	1	B;B;D;P	0.54964	0.062;0.205;0.969;0.946	B;B;P;P	0.55455	0.052;0.193;0.668;0.776	T	0.81437	-0.0933	10	0.16420	T	0.52	-12.911	10.3654	0.44021	0.0:0.3182:0.0:0.6818	.	161;354;427;436	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	436;161;354	ENSP00000307491:S436R;ENSP00000445187:S161R;ENSP00000379557:S354R	ENSP00000307491:S436R	S	+	3	2	WDR48	39101166	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.126000	0.18424	0.533000	0.62120	AGT		0.358	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		65	255	0	0	0	1	0	65	255					G	39126162	T	G	39126162	3	3	79	1	0	0	0	0	1	0	0	0	17355	1693	59	4	1358	4	WDR48	3	39126162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9921	39126162	158896268	3925	14242											
TTC21A	199223	broad.mit.edu	37	chr3	39170682	39170682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcaatgtggacgtggcGctgaacatgctaaggaacat	14	7	0	1	rs367720570	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000431162.2	+	15	2171	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_ENST00000301819.6_Silent_p.A680A|TTC21A_ENST00000440121.1_Silent_p.A631A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	679										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACGTGGCGCTGAACATGC	0.547													g|||	2	0.000399361	0.0015	0.0	5008	,	,		22893	0.0		0.0	False		,,,				2504	0.0					ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(2038-2040)gcG>gcA		tetratricopeptide repeat domain 21A		A	,	6,4324		0,6,2159	103	105	105		1893,2037	-11.7	0	3		105	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	0,6,6424	AA,AG,GG		0.0,0.1386,0.0467	,	631/1273,679/1321	39170682	6,12854	2165	4265	6430	SO:0001819	synonymous_variant	199223						binding	g.chr3:39170682G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2037G>A	3.37:g.39170682G>A						TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000431162.2_Silent_p.A679A	p.A680A	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	15	2217	+			679					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.2040G>A	CCDS46800.1																																																																																				0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		64	317	0	0	0	1	0	64	317					A	39170682	G	A	39170682	2	1	79	1	0	0	0	0	0	0	0	1	16741	1074	38	1		1	TTC21A	3	39170682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44520	39170682	158851748	3926	14243											
TTC21A	199223	broad.mit.edu	37	chr3	39178504	39178504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtctgaatccagacaaCgaggttgtgggcggagaggc	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000431162.2	+	24	3365	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000440121.1_Silent_p.N1029N			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1077										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCAGACAACGAGGTTGTGG	0.567																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3232-3234)aaC>aaT		tetratricopeptide repeat domain 21A							76	81	80					3																	39178504		2082	4199	6281	SO:0001819	synonymous_variant	199223						binding	g.chr3:39178504C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3231C>T	3.37:g.39178504C>T						TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000431162.2_Silent_p.N1077N	p.N1078N	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	24	3411	+			1077					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.3234C>T	CCDS46800.1																																																																																				0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		29	247	0	0	0	1	0	29	247					T	39178504	C	T	39178504	2	4	79	1	0	0	0	0	0	0	0	1	16741	535	19	1		1	TTC21A	3	39178504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7822	39178504	158843926	3927	14244											
CSRNP1	64651	broad.mit.edu	37	chr3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactcagccaaagagaagCgacggcaagcactgtggcga	12	11	1	1	rs200798768	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	122					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16857	0.002		0.0	False		,,,				2504	0.0					ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(364-366)cGc>cAc		cysteine-serine-rich nuclear protein 1							71	62	65					3																	39186588		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186588C>T	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.365G>A	3.37:g.39186588C>T	ENSP00000273153:p.Arg122His					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	542	-			122					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.365G>A	CCDS2682.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.953	0.968776	0.18659	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	5.14	-3.89	0.04193	.	0.872621	0.10310	N	0.690093	T	0.12092	0.0294	L	0.39245	1.2	0.22001	N	0.999423	B	0.21381	0.055	B	0.12156	0.007	T	0.25950	-1.0117	10	0.39692	T	0.17	-14.4598	9.0115	0.36144	0.1108:0.2384:0.0:0.6507	.	122	Q96S65	CSRN1_HUMAN	H	122	ENSP00000273153:R122H;ENSP00000422532:R122H	ENSP00000273153:R122H	R	-	2	0	CSRNP1	39161592	0.137000	0.22531	0.850000	0.33497	0.072000	0.16883	-0.260000	0.08708	-0.815000	0.04346	-0.993000	0.02533	CGC		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		52	240	0	0	0	1	0	52	240					T	39186588	C	T	39186588	3	4	79	1	0	0	0	0	1	0	0	0	3974	768	27	1	1416	1	CSRNP1	3	39186588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8084	39186588	158835842	3928	14245											
XIRP1	165904	broad.mit.edu	37	chr3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggtaaaacccgaggaGggcacaaatactctcttgat	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1656					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCCGAGGAGGGCACAAATA	0.527																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4966-4968)cCt>cAt		xin actin-binding repeat containing 1							101	95	97					3																	39225970		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225970G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4967C>A	3.37:g.39225970G>T	ENSP00000343140:p.Pro1656His					XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	p.P1656H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5195	-			1656					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4967C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133681	0.09032	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17213	3.98;2.29	4.75	2.33	0.28932	.	1.456000	0.05177	U	0.500616	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.33846	0.171	T	0.24977	-1.0145	10	0.44086	T	0.13	.	6.6259	0.22828	0.801:0.0:0.199:0.0	.	1656	Q702N8	XIRP1_HUMAN	H	1656;339	ENSP00000343140:P1656H;ENSP00000391645:P339H	ENSP00000343140:P1656H	P	-	2	0	XIRP1	39200974	1.000000	0.71417	0.102000	0.21198	0.099000	0.18886	3.498000	0.53302	0.286000	0.22352	-0.294000	0.09567	CCT		0.527	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		19	460	1	0	5.3912e-06	1	5.54037e-06	19	460					T	39225970	G	T	39225970	3	4	79	1	0	0	0	0	1	0	0	0	17483	1000	35	3	568	3	XIRP1	3	39225970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39382	39225970	158796460	3929	14246											
XIRP1	165904	broad.mit.edu	37	chr3	39228903	39228903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcagtatctcacaggCcgtcttccacagggacggcc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	678					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCACAGGCCGTCTTCCAC	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(2032-2034)cgG>cgA		xin actin-binding repeat containing 1							38	42	41					3																	39228903		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228903C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2034G>A	3.37:g.39228903C>T						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2262	-			678					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2034G>A	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		68	281	0	0	0	1	0	68	281					T	39228903	C	T	39228903	2	4	79	1	0	0	0	0	0	0	0	1	17483	726	26	2		2	XIRP1	3	39228903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2933	39228903	158793527	3930	14247											
XIRP1	165904	broad.mit.edu	37	chr3	39229562	39229562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttggactcccatgggccaGaacctcaccctgtccaatgc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	459					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATGGGCCAGAACCTCACCC	0.562																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1375-1377)Ctg>Ttg		xin actin-binding repeat containing 1							158	169	165					3																	39229562		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229562G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1375C>T	3.37:g.39229562G>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1603	-			459					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1375C>T	CCDS2683.1																																																																																				0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		245	1082	0	0	0	1	0	245	1082					A	39229562	G	A	39229562	2	1	79	1	0	0	0	0	0	0	0	1	17483	933	33	2		2	XIRP1	3	39229562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	659	39229562	158792868	3931	14248											
XIRP1	165904	broad.mit.edu	37	chr3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtcctggggatccactcGctgtaggtgacccacttgga	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	404					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGATCCACTCGCTGTAGGTGA	0.582																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1210-1212)Cga>Tga		xin actin-binding repeat containing 1							145	145	145					3																	39229727		2203	4300	6503	SO:0001587	stop_gained	165904						actin binding	g.chr3:39229727G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1210C>T	3.37:g.39229727G>A	ENSP00000343140:p.Arg404*					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1438	-			404					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Nonsense_Mutation	SNP	ENST00000340369.3	37	c.1210C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	39	7.305397	0.98200	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	.	.	.	5.17	4.27	0.50696	.	0.118422	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.9849	0.47516	0.0:0.0:0.6612:0.3388	.	.	.	.	X	404	.	ENSP00000343140:R404X	R	-	1	2	XIRP1	39204731	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.495000	0.66912	1.279000	0.44446	0.655000	0.94253	CGA		0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		51	1155	0	0	0	1	0	51	1155					A	39229727	G	A	39229727	4	1	79	1	0	0	0	0	0	1	0	0	17483	1095	38	1	4325	1	XIRP1	3	39229727	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	39229727	158792703	3932	14249											
XIRP1	165904	broad.mit.edu	37	chr3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggctccttggcagctgGcctctcgtgttctccaatgg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	112					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCAGCTGGCCTCTCGTGT	0.597																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(334-336)Cca>Tca		xin actin-binding repeat containing 1							72	72	72					3																	39230603		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230603G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.334C>T	3.37:g.39230603G>A	ENSP00000343140:p.Pro112Ser					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	562	-			112					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.334C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040298	0.08148	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;3.97	4.93	4.93	0.64822	.	0.160135	0.42420	U	0.000714	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.48	P;B	0.52109	0.69;0.28	T	0.20273	-1.0280	10	0.66056	D	0.02	.	16.048	0.80734	0.0:0.0:1.0:0.0	.	112;112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	112	ENSP00000379550:P112S;ENSP00000343140:P112S	ENSP00000343140:P112S	P	-	1	0	XIRP1	39205607	1.000000	0.71417	0.286000	0.24833	0.165000	0.22458	2.383000	0.44354	2.465000	0.83290	0.655000	0.94253	CCA		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		78	317	0	0	0	1	0	78	317					A	39230603	G	A	39230603	3	1	79	1	0	0	0	0	1	0	0	0	17483	1203	42	2	5201	2	XIRP1	3	39230603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	876	39230603	158791827	3933	14250											
RPSA	3921	broad.mit.edu	37	chr3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgttatatcctccaGgaatactggccaggtttgtg	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	SNORA6_ENST00000384033.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M|SNORA62_ENST00000365493.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(238-240)aGg>aTg		ribosomal protein SA							53	57	56					3																	39450202		2203	4299	6502	SO:0001583	missense	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39450202G>T	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"laminin receptor 1 (67kD, ribosomal protein SA)"	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.239G>T	3.37:g.39450202G>T	ENSP00000346067:p.Arg80Met					RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	348	+			80			Interaction with PPP1R16B.			Missense_Mutation	SNP	ENST00000301821.6	37	c.239G>T	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753442	0.89753	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.52057	0.68;0.68;0.68	4.53	4.53	0.55603	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	H	0.99225	4.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;P	0.65233	0.933;0.895	D	0.89040	0.3448	10	0.87932	D	0	.	15.1272	0.72493	0.0:0.0:1.0:0.0	.	80;80	C9J9K3;P08865	.;RSSA_HUMAN	M	80	ENSP00000346067:R80M;ENSP00000410848:R80M;ENSP00000389351:R80M	ENSP00000346067:R80M	R	+	2	0	RPSA	39425206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.463000	0.97652	2.220000	0.72140	0.462000	0.41574	AGG		0.388	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		27	470	1	0	1.06801e-11	1	1.14091e-11	27	470					T	39450202	G	T	39450202	3	4	79	1	0	0	0	0	1	0	0	0	13713	1000	35	3	245	3	RPSA	3	39450202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219599	39450202	158572228	3934	14251											
MYRIP	25924	broad.mit.edu	37	chr3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccagtggaggctccatCgaggcagccaagggaccaag	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	314	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(940-942)tCg>tTg		myosin VIIA and Rab interacting protein							76	76	76					3																	40223778		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223778C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.941C>T	3.37:g.40223778C>T	ENSP00000301972:p.Ser314Leu					MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L	p.S314L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1283	+			314			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.941C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887910	0.33348	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.047200	0.07557	N	0.916394	T	0.15262	0.0368	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37781	0.608;0.335;0.386	B;B;B	0.27608	0.081;0.037;0.039	T	0.21245	-1.0251	9	.	.	.	.	7.2644	0.26222	0.0:0.426:0.46:0.114	.	225;314;314	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	314;314;314;225;127	ENSP00000398665:S314L;ENSP00000301972:S314L;ENSP00000389323:S314L;ENSP00000379519:S225L;ENSP00000438297:S127L	.	S	+	2	0	MYRIP	40198782	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	1.250000	0.32850	0.618000	0.30179	0.655000	0.94253	TCG		0.562	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		91	393	0	0	0	1	0	91	393					T	40223778	C	T	40223778	3	4	79	1	0	0	0	0	1	0	0	0	10141	893	31	1	971	1	MYRIP	3	40223778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	773576	40223778	157798652	3935	14252											
MYRIP	25924	broad.mit.edu	37	chr3	40231551	40231551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccctgcccaggaaccCccagcctcagcccacacagg	10	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40231551C>T	ENST00000302541.6	+	10	1604	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L|MYRIP_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	421	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCAGGAACCCCCAGCCTCAG	0.632																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1261-1263)cCc>cTc		myosin VIIA and Rab interacting protein							75	76	76					3																	40231551		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231551C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1262C>T	3.37:g.40231551C>T	ENSP00000301972:p.Pro421Leu					MYRIP_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L|MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L	p.P421L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1604	+			421			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1262C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982399	0.53827	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.5	4.63	0.57726	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.317042	0.34314	N	0.004078	T	0.18383	0.0441	N	0.14661	0.345	0.48185	D	0.999601	P;B;B	0.40000	0.698;0.003;0.003	B;B;B	0.43413	0.419;0.009;0.015	T	0.06180	-1.0841	9	.	.	.	.	11.9821	0.53125	0.0:0.9156:0.0:0.0844	.	332;421;421	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	421;421;421;332;234	ENSP00000398665:P421L;ENSP00000301972:P421L;ENSP00000389323:P421L;ENSP00000379519:P332L;ENSP00000438297:P234L	.	P	+	2	0	MYRIP	40206555	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	3.900000	0.56295	1.323000	0.45263	0.655000	0.94253	CCC		0.632	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		11	566	0	0	0	1	0	11	566					T	40231551	C	T	40231551	3	4	79	1	0	0	0	0	1	0	0	0	10141	623	22	2	1296	2	MYRIP	3	40231551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	40231551	157790879	3936	14253											
MYRIP	25924	broad.mit.edu	37	chr3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatcagcaatgaggctcGggatccccagactctcacag	10	13	2	3	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1708-1710)cGg>cAg		myosin VIIA and Rab interacting protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107	103	104		1709	-11.1	0	3	dbSNP_134	104	6,8594	5.0+/-18.6	0,6,4294	yes	missense	MYRIP	NM_015460.2	43	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	570/860	40251388	7,12999	2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251388G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1709G>A	3.37:g.40251388G>A	ENSP00000301972:p.Arg570Gln					MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q	p.R570Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2051	+			570			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1709G>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092538	0.08632	2.27E-4	6.98E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.54	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.219430	0.05706	N	0.595052	T	0.05090	0.0136	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.20739	-1.0266	9	.	.	.	.	4.1303	0.10146	0.3183:0.1099:0.4637:0.1081	.	481;570;570	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	570;570;570;481;383	ENSP00000398665:R570Q;ENSP00000301972:R570Q;ENSP00000389323:R570Q;ENSP00000379519:R481Q;ENSP00000438297:R383Q	.	R	+	2	0	MYRIP	40226392	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	-2.264000	0.00689	-0.794000	0.03295	CGG		0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		75	367	0	0	0	1	0	75	367					A	40251388	G	A	40251388	3	1	79	1	0	0	0	0	1	0	0	0	10141	1116	39	1	1747	1	MYRIP	3	40251388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19837	40251388	157771042	3937	14254											
MYRIP	25924	broad.mit.edu	37	chr3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaggagttgatagcaGgatctacagggccctgggag	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	662	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1984-1986)Gga>Tga		myosin VIIA and Rab interacting protein							81	78	79					3																	40275428		2203	4300	6503	SO:0001587	stop_gained	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40275428G>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1984G>T	3.37:g.40275428G>T	ENSP00000301972:p.Gly662*					MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000425621.1_Intron	p.G662*	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	12	2326	+			662			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Nonsense_Mutation	SNP	ENST00000302541.6	37	c.1984G>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731632	0.99249	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	.	.	.	5.79	5.79	0.91817	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;573;475	.	.	G	+	1	0	MYRIP	40250432	1.000000	0.71417	0.870000	0.34147	0.944000	0.59088	6.649000	0.74364	2.733000	0.93635	0.655000	0.94253	GGA		0.512	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		32	284	1	0	2.81731e-10	1	2.98404e-10	32	284					T	40275428	G	T	40275428	4	4	79	1	0	0	0	0	0	1	0	0	10141	1001	35	3	2026	3	MYRIP	3	40275428	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24040	40275428	157747002	3938	14255											
ZNF619	285267	broad.mit.edu	37	chr3	40523406	40523406	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaacctttgaggatgtggCtgtgtacttcacccagaatg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40523406C>T	ENST00000314686.5	+	0	384				ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A26V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGGATGTGGCTGTGTACTTC	0.517																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(76-78)gCt>gTt		zinc finger protein 619							200	186	191					3																	40523406		2203	4300	6503	SO:0001623	5_prime_UTR_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40523406C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.-22C>T	3.37:g.40523406C>T						ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V	p.A26V	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	384	+			26					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.77C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.226093	0.79576	.	.	ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.03	3.03	0.35002	.	.	.	.	.	T	0.18173	0.0436	M	0.85630	2.765	0.22787	N	0.998734	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	T	0.01988	-1.1234	9	0.52906	T	0.07	.	11.885	0.52598	0.0:1.0:0.0:0.0	.	26;26	C9JRN5;E9PCD9	.;.	V	26	ENSP00000411132:A26V;ENSP00000398024:A26V;ENSP00000430705:A26V;ENSP00000388710:A26V	ENSP00000398024:A26V	A	+	2	0	ZNF619	40498410	0.531000	0.26338	0.968000	0.41197	0.996000	0.88848	1.605000	0.36815	1.695000	0.51148	0.563000	0.77884	GCT		0.517	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		25	743	0	0	0	1	0	25	743					T	40523406	C	T	40523406	1	4	79	0	1	0	0	0	0	0	0	0	18096	797	28	2		2	ZNF619	3	40523406	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247978	40523406	157499024	3939	14256											
ZNF619	285267	broad.mit.edu	37	chr3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttccattccccaaaccaGatctgatattccagctggag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000314686.5	+	4	509	c.104G>T	c.(103-105)aGa>aTa	p.R35I	ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(322-324)Gat>Tat		zinc finger protein 619							143	138	140					3																	40524102		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40524102G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.104G>T	3.37:g.40524102G>T	ENSP00000322529:p.Arg35Ile					ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000314686.5_Missense_Mutation_p.R35I|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y	p.D108Y	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	5	629	+			108					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.322G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.442|8.442	0.851048|0.851048	0.17034|0.17034	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000456778;ENST00000521353;ENST00000432264|ENST00000314686;ENST00000522736	T;T;T;T;T|T;T	0.42900|0.08282	3.3;0.96;3.2;3.3;0.96|3.12;3.11	3.4|3.4	1.53|1.53	0.23141|0.23141	.|.	.|.	.|.	.|.	.|.	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.45581|0.45581	1.43|1.43	0.21897|0.21897	N|N	0.999483|0.999483	P;P;P;P|P;P	0.40476|0.40476	0.561;0.561;0.718;0.718|0.718;0.718	B;B;B;B|B;B	0.34242|0.31245	0.128;0.088;0.124;0.178|0.126;0.126	T|T	0.30822|0.30822	-0.9965|-0.9965	9|9	0.62326|0.72032	D|D	0.03|0.01	.|.	6.2387|6.2387	0.20778|0.20778	0.1161:0.1962:0.6877:0.0|0.1161:0.1962:0.6877:0.0	.|.	24;68;108;10|35;35	B4E271;C9JRN5;E9PCD9;B7Z9B3|Q17RW3;Q8N2I2	.;.;.;.|.;ZN619_HUMAN	Y|I	108;68;24;108;68|35	ENSP00000411132:D108Y;ENSP00000398024:D68Y;ENSP00000397232:D24Y;ENSP00000430705:D108Y;ENSP00000388710:D68Y|ENSP00000322529:R35I;ENSP00000428004:R35I	ENSP00000398024:D68Y|ENSP00000322529:R35I	D|R	+|+	1|2	0|0	ZNF619|ZNF619	40499106|40499106	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.075000|0.075000	0.17131|0.17131	0.160000|0.160000	0.16462|0.16462	0.770000|0.770000	0.33336|0.33336	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.532	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		135	611	1	0	3.36649e-63	1	4.24766e-63	135	611					T	40524102	G	T	40524102	3	4	79	1	0	0	0	0	1	0	0	0	18096	942	33	3	358	3	ZNF619	3	40524102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40524102	157498328	3940	14257											
ZNF619	285267	broad.mit.edu	37	chr3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatgaggaaaaaactgCacagctaaacatttctaaag	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000314686.5	+	6	689	c.284C>T	c.(283-285)gCa>gTa	p.A95V	ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(451-453)gCa>gTa		zinc finger protein 619							57	62	61					3																	40528333		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528333C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.284C>T	3.37:g.40528333C>T	ENSP00000322529:p.Ala95Val					ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000314686.5_Missense_Mutation_p.A95V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V	p.A151V	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	759	+			151					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.452C>T		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309264	0.23821	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.14516	3.31;3.43;3.61;3.38;2.5;3.43;3.61	2.87	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.012;0.012	B;B;B;B;B;B	0.12156	0.004;0.004;0.004;0.004;0.007;0.007	T	0.25606	-1.0127	9	0.45353	T	0.12	.	3.0755	0.06245	0.2657:0.5829:0.0:0.1513	.	67;111;151;53;102;95	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	V	95;151;111;67;102;151;111	ENSP00000322529:A95V;ENSP00000411132:A151V;ENSP00000398024:A111V;ENSP00000397232:A67V;ENSP00000428004:A102V;ENSP00000430705:A151V;ENSP00000388710:A111V	ENSP00000322529:A95V	A	+	2	0	ZNF619	40503337	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-1.304000	0.02741	1.622000	0.50330	0.563000	0.77884	GCA		0.418	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		48	293	0	0	0	1	0	48	293					T	40528333	C	T	40528333	3	4	79	1	0	0	0	0	1	0	0	0	18096	710	25	2	492	2	ZNF619	3	40528333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4231	40528333	157494097	3941	14258											
ZNF619	285267	broad.mit.edu	37	chr3	40528415	40528415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttccccagcaccctgaCttcaaggacaggttagagaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000314686.5	+	6	771	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000447116.2_Silent_p.D178D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(532-534)gaC>gaT		zinc finger protein 619							68	67	67					3																	40528415		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528415C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.366C>T	3.37:g.40528415C>T						ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000314686.5_Silent_p.D122D|ZNF619_ENST00000521353.1_Silent_p.D178D	p.D178D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	841	+			178					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.534C>T																																																																																					0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		63	295	0	0	0	1	0	63	295					T	40528415	C	T	40528415	2	4	79	1	0	0	0	0	0	0	0	1	18096	564	20	2		2	ZNF619	3	40528415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	40528415	157494015	3942	14259											
ZNF619	285267	broad.mit.edu	37	chr3	40529531	40529531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccccaacatacctgCtctgccctagccccaccagg	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000314686.5	+	6	1887	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000447116.2_Silent_p.C550C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1648-1650)tgC>tgT		zinc finger protein 619							146	102	117					3																	40529531		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529531C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1482C>T	3.37:g.40529531C>T						ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000314686.5_Silent_p.C494C|ZNF619_ENST00000521353.1_Silent_p.C550C	p.C550C	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1957	+			550					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1650C>T																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		53	257	0	0	0	1	0	53	257					T	40529531	C	T	40529531	2	4	79	1	0	0	0	0	0	0	0	1	18096	805	28	2		2	ZNF619	3	40529531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	40529531	157492899	3943	14260											
ZNF620	253639	broad.mit.edu	37	chr3	40558249	40558249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgagttcacactggCgagaaaccttatgagtgtaa	10	10	1	2	rs375097956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000314529.6	+	5	1313	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ZNF620_ENST00000418905.1_Silent_p.G274G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCACACTGGCGAGAAACCTT	0.458													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000314529.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1162-1164)ggC>ggT		zinc finger protein 620		C		0,4406		0,0,2203	86	92	90		1164	-5.6	0	3		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF620	NM_175888.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		388/423	40558249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40558249C>T	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1164C>T	3.37:g.40558249C>T						ZNF620_ENST00000418905.1_Silent_p.G274G	p.G388G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1313	+			388					Q8N223	Silent	SNP	ENST00000314529.6	37	c.1164C>T	CCDS33740.1																																																																																				0.458	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		23	275	0	0	0	1	0	23	275					T	40558249	C	T	40558249	2	4	79	1	0	0	0	0	0	0	0	1	18097	755	27	1		1	ZNF620	3	40558249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28718	40558249	157464181	3944	14261											
ZNF621	285268	broad.mit.edu	37	chr3	40571782	40571782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagatccctgggacacCgagattctgagaggcatcag	13	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGGGACACCGAGATTCTGA	0.488																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(232-234)acC>acT		zinc finger protein 621							123	117	119					3																	40571782		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40571782C>T	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.234C>T	3.37:g.40571782C>T						ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000431278.1_5'UTR	p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	686	+			78			KRAB.		Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.234C>T	CCDS2693.1																																																																																				0.488	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		64	273	0	0	0	1	0	64	273					T	40571782	C	T	40571782	2	4	79	1	0	0	0	0	0	0	0	1	18098	639	23	1		1	ZNF621	3	40571782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	40571782	157450648	3945	14262											
CTNNB1	1499	broad.mit.edu	37	chr3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgcagttgtaaacttgaTtaactatcaagatgatgcag	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	140					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTAAACTTGATTAACTATCAA	0.438		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	22	Deletion - In frame(16)|Complex - deletion inframe(6)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	liver(21)|skin(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(418-420)aTt>aAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						143	126	131					3																	41266622		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266622T>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.419T>A	3.37:g.41266622T>A	ENSP00000344456:p.Ile140Asn					CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N	p.I140N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	699	+			140					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.419T>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018389	0.75275	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.65549	-0.16;0.94;-0.16;-0.16;-0.16;-0.16	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.81586	-0.0865	10	0.62326	D	0.03	-26.5655	15.7251	0.77751	0.0:0.0:0.0:1.0	.	68;140	B4DSW9;P35222	.;CTNB1_HUMAN	N	140;140;140;140;133;140	ENSP00000385604:I140N;ENSP00000412219:I140N;ENSP00000379486:I140N;ENSP00000344456:I140N;ENSP00000411226:I133N;ENSP00000379488:I140N	ENSP00000344456:I140N	I	+	2	0	CTNNB1	41241626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	ATT		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		81	267	0	0	0	1	0	81	267					A	41266622	T	A	41266622	3	1	79	1	0	0	0	0	1	0	0	0	4027	1493	52	5	429	5	CTNNB1	3	41266622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	694840	41266622	156755808	3946	14263											
CTNNB1	1499	broad.mit.edu	37	chr3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttatctccataggaAgggatggaaggtctccttgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	396					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCCATAGGAAGGGATGGAAG	0.433		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1186-1188)gaA>gaC		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						133	126	128					3																	41275022		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275022A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1188A>C	3.37:g.41275022A>C	ENSP00000344456:p.Glu396Asp					CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D	p.E396D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1468	+			396					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1188A>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	7.751	0.703292	0.15172	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.86	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07539	-1.0767	10	0.08179	T	0.78	-10.668	8.4911	0.33100	0.6984:0.0:0.3016:0.0	.	324;396	B4DSW9;P35222	.;CTNB1_HUMAN	D	396;396;396;389;396	ENSP00000385604:E396D;ENSP00000379486:E396D;ENSP00000344456:E396D;ENSP00000411226:E389D;ENSP00000379488:E396D	ENSP00000344456:E396D	E	+	3	2	CTNNB1	41250026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.379000	0.44318	0.452000	0.26830	0.533000	0.62120	GAA		0.433	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		166	631	0	0	0	1	0	166	631					C	41275022	A	C	41275022	3	2	79	1	0	0	0	0	1	0	0	0	4027	69	3	4	1218	4	CTNNB1	3	41275022	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8400	41275022	156747408	3947	14264											
CTNNB1	1499	broad.mit.edu	37	chr3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggttcagatgatataAatgtggtcacctgtgcagct	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	415					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGATGATATAAATGTGGTCAC	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1243-1245)Aat>Cat		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						161	156	157					3																	41275077		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275077A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1243A>C	3.37:g.41275077A>C	ENSP00000344456:p.Asn415His					CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H	p.N415H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1523	+			415					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1243A>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005703	0.54254	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.79011	2.435	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.12837	0.008;0.008;0.008	T	0.62459	-0.6850	10	0.41790	T	0.15	-0.0228	16.255	0.82510	1.0:0.0:0.0:0.0	.	343;408;415	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	H	415;415;415;408;415	ENSP00000385604:N415H;ENSP00000379486:N415H;ENSP00000344456:N415H;ENSP00000411226:N408H;ENSP00000379488:N415H	ENSP00000344456:N415H	N	+	1	0	CTNNB1	41250081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAT		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		158	835	0	0	0	1	0	158	835					C	41275077	A	C	41275077	3	2	79	1	0	0	0	0	1	0	0	0	4027	14	1	4	1273	4	CTNNB1	3	41275077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	41275077	156747353	3948	14265											
CTNNB1	1499	broad.mit.edu	37	chr3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtggtcacctgtgcagCtggaattctttctaacctca	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	421					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCTGTGCAGCTGGAATTCTT	0.453		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1261-1263)gCt>gTt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						158	154	155					3																	41275096		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275096C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1262C>T	3.37:g.41275096C>T	ENSP00000344456:p.Ala421Val					CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V	p.A421V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1542	+			421					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1262C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780016	0.70222	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.74881	2.28	0.80722	D	1	B;B;B	0.26547	0.152;0.078;0.152	B;B;B	0.24394	0.053;0.023;0.032	T	0.61123	-0.7126	10	0.30854	T	0.27	-15.8016	20.1865	0.98220	0.0:1.0:0.0:0.0	.	349;414;421	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	V	421;421;421;414;421	ENSP00000385604:A421V;ENSP00000379486:A421V;ENSP00000344456:A421V;ENSP00000411226:A414V;ENSP00000379488:A421V	ENSP00000344456:A421V	A	+	2	0	CTNNB1	41250100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	GCT		0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		160	809	0	0	0	1	0	160	809					T	41275096	C	T	41275096	3	4	79	1	0	0	0	0	1	0	0	0	4027	797	28	2	1292	2	CTNNB1	3	41275096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	41275096	156747334	3949	14266											
CTNNB1	1499	broad.mit.edu	37	chr3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actagttcagttgcttgttcGtgcacatcaggatacccagc	9	11	2	0	rs551257843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	542					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTGCTTGTTCGTGCACATCAG	0.488		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1624-1626)cGt>cAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						159	133	142					3																	41275730		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275730G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1625G>A	3.37:g.41275730G>A	ENSP00000344456:p.Arg542His					CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H	p.R542H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	10	1905	+			542					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1625G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528589	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.87	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82132	2.575	0.80722	D	1	B;P	0.36683	0.383;0.565	B;B	0.24974	0.046;0.057	T	0.68735	-0.5330	10	0.72032	D	0.01	-14.329	16.2705	0.82616	0.0:0.0:0.8662:0.1338	.	470;542	B4DSW9;P35222	.;CTNB1_HUMAN	H	542;542;542;535;542	ENSP00000385604:R542H;ENSP00000379486:R542H;ENSP00000344456:R542H;ENSP00000411226:R535H;ENSP00000379488:R542H	ENSP00000344456:R542H	R	+	2	0	CTNNB1	41250734	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.961000	0.87903	1.456000	0.47831	0.591000	0.81541	CGT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		56	275	0	0	0	1	0	56	275					A	41275730	G	A	41275730	3	1	79	1	0	0	0	0	1	0	0	0	4027	1145	40	1	1659	1	CTNNB1	3	41275730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634	41275730	156746700	3950	14267											
ULK4	54986	broad.mit.edu	37	chr3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T													cagggtctactcacctatggCtccatctatgttcgtttctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	894					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2680-2682)Gcc>Acc		unc-51 like kinase 4							93	87	89					3																	41746752		1811	4078	5889	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746752C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2680G>A	3.37:g.41746752C>T	ENSP00000301831:p.Ala894Thr						p.A894T	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	3142	-			894					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2680G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575882	0.86645	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.01	5.01	0.66863	Armadillo-type fold (1);	0.180486	0.33938	U	0.004411	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.72110	-0.4389	10	0.42905	T	0.14	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	894	Q96C45	ULK4_HUMAN	T	894	ENSP00000301831:A894T	ENSP00000301831:A894T	A	-	1	0	ULK4	41721756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.226000	0.65299	2.480000	0.83734	0.591000	0.81541	GCC		0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		28	276	0	0	0	1	0	28	276					T	41746752	C	T	41746752	3	4	79	1	0	0	0	0	1	0	0	0	17032	797	28	2	1195	2	ULK4	3	41746752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	471022	41746752	156275678	3951	14268	87	2									
ULK4	54986	broad.mit.edu	37	chr3	41746756	41746756	+	Silent	SNP	A	A	G													gtctactcacctatggctccAtctatgttcgtttctcctga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	892					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTATGGCTCCATCTATGTTCG	0.274																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2674-2676)gaT>gaC		unc-51 like kinase 4							91	84	86					3																	41746756		1808	4077	5885	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746756A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2676T>C	3.37:g.41746756A>G							p.D892D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	3138	-			892					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.2676T>C	CCDS43071.1																																																																																				0.274	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		12	298	0	0	0	1	0	12	298					G	41746756	A	G	41746756	2	3	79	1	0	0	0	0	0	0	0	1	17032	214	8	4		4	ULK4	3	41746756	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4	41746756	156275674	3952	14269	87	2									
ULK4	54986	broad.mit.edu	37	chr3	41756938	41756938	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcaatacaatagtaCctgtgaagttacgaggtgaa	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4						cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.e24+1		unc-51 like kinase 4							96	94	95					3																	41756938		1901	4127	6028	SO:0001630	splice_region_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41756938C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2577+1G>T	3.37:g.41756938C>A								NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	24	3040	-								A6NF15|Q8IW79|Q9NWV6|Q9UF96	Splice_Site	SNP	ENST00000301831.4	37		CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383800	0.61845	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8774	0.96884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41731942	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	6.775000	0.75018	2.703000	0.92315	0.650000	0.86243	.		0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	Intron	61	275	1	0	3.8128e-34	1	4.53067e-34	61	275					A	41756938	C	A	41756938	5	1	79	1	0	0	0	0	0	0	1	0	17032	521	18	3	1305	3	ULK4	3	41756938	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10182	41756938	156265492	3953	14270											
ULK4	54986	broad.mit.edu	37	chr3	41841755	41841756	+	Frame_Shift_Ins	INS	-	-	C													cagacattttcaataattttINStgctgccatgtgattcacaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41841755_41841756insC	ENST00000301831.4	-	20	2340_2341	c.1878_1879insG	c.(1876-1881)gcaaaafs	p.K627fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	627					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAATAATTTTTGCTGCCATGT	0.361																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1876-1881)gcaaatfs		unc-51 like kinase 4																																				SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41841755_41841756insC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1878_1879insG	3.37:g.41841755_41841756insC	ENSP00000301831:p.Lys627fs						p.N627fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	20	2340_2341	-			627					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	c.1878_1879insG	CCDS43071.1																																																																																				0.361	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		22	938						22	938	---	---	---	---	C	41841756	-	C	41841755	7	5	79	1	0	1	1	0	0	0	0	0	17032	1850	64	0	2020	0	ULK4	3	41841755	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	84817	41841755	156180675	3954	14271											
ULK4	54986	broad.mit.edu	37	chr3	41939937	41939937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctacctgaatatgttggTagatgcaatatttttgcatc	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000301831.4	-	14	1797	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Silent_p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	445					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1333-1335)ctA>ctG		unc-51 like kinase 4							133	140	138					3																	41939937		2186	4291	6477	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41939937T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1335A>G	3.37:g.41939937T>C						ULK4_ENST00000420927.1_Silent_p.L445L	p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	14	1797	-			445					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.1335A>G	CCDS43071.1																																																																																				0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		103	378	0	0	0	1	0	103	378					C	41939937	T	C	41939937	2	2	79	1	0	0	0	0	0	0	0	1	17032	1625	57	4		4	ULK4	3	41939937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98182	41939937	156082493	3955	14272											
TRAK1	22906	broad.mit.edu	37	chr3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacattgacctcacaaccGagcaaattgaagagacgtta	7	11	1	3	rs368818504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCACAACCGAGCAAATTGA	0.448																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(256-258)Gag>Aag		trafficking protein, kinesin binding 1		G	LYS/GLU	1,3909		0,1,1954	135	126	129		256	5.7	1	3		129	0,8286		0,0,4143	no	missense	TRAK1	NM_001042646.1	56	0,1,6097	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	86/954	42167076	1,12195	1955	4143	6098	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167076G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.256G>A	3.37:g.42167076G>A	ENSP00000328998:p.Glu86Lys					TRAK1_ENST00000487159.1_3'UTR	p.E86K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	656	+			86			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.256G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246109	0.95272	2.56E-4	0.0	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18338	2.22	5.73	5.73	0.89815	.	0.135083	0.47455	D	0.000222	T	0.40398	0.1115	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01925	-1.1246	10	0.24483	T	0.36	.	18.8873	0.92383	0.0:0.0:1.0:0.0	.	86;86	B7Z347;Q9UPV9	.;TRAK1_HUMAN	K	86	ENSP00000328998:E86K	ENSP00000328998:E86K	E	+	1	0	TRAK1	42142080	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.708000	0.92522	0.655000	0.94253	GAG		0.448	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		17	564	0	0	0	1	0	17	564					A	42167076	G	A	42167076	3	1	79	1	0	0	0	0	1	0	0	0	16502	1059	37	1	262	1	TRAK1	3	42167076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227139	42167076	155855354	3956	14273											
TRAK1	22906	broad.mit.edu	37	chr3	42226281	42226281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggagcaggtggaacaCatcagggaggaggtaagaca	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42226281C>T	ENST00000327628.5	+	4	868	c.468C>T	c.(466-468)caC>caT	p.H156H	TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	156	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGTGGAACACATCAGGGAGG	0.582																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(466-468)caC>caT		trafficking protein, kinesin binding 1							113	113	113					3																	42226281		2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42226281C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.468C>T	3.37:g.42226281C>T						TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.H98H	p.H156H	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			4	868	+			156			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.468C>T	CCDS43072.1																																																																																				0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		21	699	0	0	0	1	0	21	699					T	42226281	C	T	42226281	2	4	79	1	0	0	0	0	0	0	0	1	16502	477	17	2		2	TRAK1	3	42226281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59205	42226281	155796149	3957	14274											
TRAK1	22906	broad.mit.edu	37	chr3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacctgctatcgcaaataGttgatttgcagaaaaaggca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000327628.5	+	8	1274	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	292	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(874-876)Gtt>Att		trafficking protein, kinesin binding 1							110	105	106					3																	42234671		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42234671G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.874G>A	3.37:g.42234671G>A	ENSP00000328998:p.Val292Ile					TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I	p.V292I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			8	1274	+			292			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.874G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372768	0.82573	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.998;0.996;0.972;1.0	D;D;D;D;P;D	0.83275	0.994;0.996;0.996;0.99;0.899;0.984	T	0.26985	-1.0087	10	0.59425	D	0.04	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	218;234;292;234;218;292	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	292;292;218;234;234;35	ENSP00000328998:V292I;ENSP00000410717:V218I;ENSP00000379478:V234I;ENSP00000340702:V234I;ENSP00000413729:V35I	ENSP00000328998:V292I	V	+	1	0	TRAK1	42209675	1.000000	0.71417	0.116000	0.21606	0.491000	0.33493	9.799000	0.99117	2.779000	0.95612	0.637000	0.83480	GTT		0.478	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		82	305	0	0	0	1	0	82	305					A	42234671	G	A	42234671	3	1	79	1	0	0	0	0	1	0	0	0	16502	1029	36	2	1020	2	TRAK1	3	42234671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8390	42234671	155787759	3958	14275											
TRAK1	22906	broad.mit.edu	37	chr3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaataccacgtctcggCgctaccactcactgggcctg	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000327628.5	+	10	1484	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	362	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1084-1086)Cgc>Tgc		trafficking protein, kinesin binding 1							119	86	97					3																	42236404		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42236404C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1084C>T	3.37:g.42236404C>T	ENSP00000328998:p.Arg362Cys					TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C	p.R362C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			10	1484	+			362			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1084C>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879276	0.91740	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15834	2.95;2.98;2.96;2.97;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.74258	2.255	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;P;P	0.79108	0.959;0.959;0.973;0.992;0.871;0.871	T	0.08126	-1.0737	10	0.42905	T	0.14	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	288;304;362;304;288;362	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	C	362;362;288;304;304;80	ENSP00000328998:R362C;ENSP00000410717:R288C;ENSP00000379478:R304C;ENSP00000340702:R304C;ENSP00000413729:R80C	ENSP00000328998:R362C	R	+	1	0	TRAK1	42211408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.869000	0.69613	2.882000	0.98803	0.655000	0.94253	CGC		0.572	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		25	84	0	0	0	1	0	25	84					T	42236404	C	T	42236404	3	4	79	1	0	0	0	0	1	0	0	0	16502	768	27	1	1238	1	TRAK1	3	42236404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1733	42236404	155786026	3959	14276											
VIPR1	7433	broad.mit.edu	37	chr3	42568884	42568884	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctgtccctccaacaGcagcagaccatgttctacgg	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000325123.4	+	5	512		c.e5-1		VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Splice_Site	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1						digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTCCAACAGCAGCAGACCA	0.617																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.e6-1		vasoactive intestinal peptide receptor 1							131	115	121					3																	42568884		2203	4300	6503	SO:0001630	splice_region_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42568884G>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.400-1G>T	3.37:g.42568884G>T						VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Splice_Site|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA		NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	6	900	+								A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Splice_Site	SNP	ENST00000325123.4	37		CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793086	0.31685	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000439731;ENST00000325123	.	.	.	4.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5622	0.50782	0.0:0.3435:0.6565:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VIPR1	42543888	0.213000	0.23551	0.574000	0.28523	0.233000	0.25261	0.192000	0.17096	1.050000	0.40346	0.655000	0.94253	.		0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	Intron	59	323	1	0	1.19553e-41	1	1.45319e-41	59	323					T	42568884	G	T	42568884	5	4	79	1	0	0	0	0	0	0	1	0	17223	985	34	3	417	3	VIPR1	3	42568884	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332480	42568884	155453546	3960	14277											
NKTR	4820	broad.mit.edu	37	chr3	42672059	42672059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacaaagcctgctccacaCctggatgggtaagagttaca	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	132	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCTCCACACCTGGATGGGT	0.453																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(394-396)caC>caT		natural killer-tumor recognition sequence							160	138	145					3																	42672059		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42672059C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.396C>T	3.37:g.42672059C>T						RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.H132H	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	7	584	+			132			PPIase cyclophilin-type.			Silent	SNP	ENST00000232978.8	37	c.396C>T	CCDS2702.1																																																																																				0.453	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		62	299	0	0	0	1	0	62	299					T	42672059	C	T	42672059	2	4	79	1	0	0	0	0	0	0	0	1	10490	506	18	2		2	NKTR	3	42672059	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103175	42672059	155350371	3961	14278											
NKTR	4820	broad.mit.edu	37	chr3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgcttaaaccgtagaCcaagaaatcaggagagttca	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1291					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACCGTAGACCAAGAAATCA	0.428																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3871-3873)Cca>Tca		natural killer-tumor recognition sequence							79	78	78					3																	42681067		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42681067C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3871C>T	3.37:g.42681067C>T	ENSP00000232978:p.Pro1291Ser					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.P1291S	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	4059	+			1291						Missense_Mutation	SNP	ENST00000232978.8	37	c.3871C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165595	0.78339	.	.	ENSG00000114857	ENST00000232978	T	0.20069	2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60229	-0.7304	10	0.87932	D	0	-17.7678	19.4228	0.94729	0.0:1.0:0.0:0.0	.	991;1291	Q6M1B8;P30414	.;NKTR_HUMAN	S	1291	ENSP00000232978:P1291S	ENSP00000232978:P1291S	P	+	1	0	NKTR	42656071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.663000	0.90544	0.655000	0.94253	CCA		0.428	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		65	289	0	0	0	1	0	65	289					T	42681067	C	T	42681067	3	4	79	1	0	0	0	0	1	0	0	0	10490	507	18	2	3917	2	NKTR	3	42681067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9008	42681067	155341363	3962	14279											
NKTR	4820	broad.mit.edu	37	chr3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagaagttataatcggCggtccaggtgggtctctctc	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1432					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATAATCGGCGGTCCAGGTG	0.527																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4294-4296)Cgg>Tgg		natural killer-tumor recognition sequence							113	95	101					3																	42685488		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42685488C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4294C>T	3.37:g.42685488C>T	ENSP00000232978:p.Arg1432Trp					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R1432W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	16	4482	+			1432						Missense_Mutation	SNP	ENST00000232978.8	37	c.4294C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293489	0.60086	.	.	ENSG00000114857	ENST00000232978	T	0.23950	1.88	5.52	4.64	0.57946	.	0.060738	0.64402	N	0.000004	T	0.26085	0.0636	M	0.72894	2.215	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.048	T	0.09796	-1.0658	10	0.87932	D	0	-3.2097	9.981	0.41813	0.1459:0.7803:0.0:0.0738	.	1132;1432	Q6M1B8;P30414	.;NKTR_HUMAN	W	1432	ENSP00000232978:R1432W	ENSP00000232978:R1432W	R	+	1	2	NKTR	42660492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.085000	0.30840	1.341000	0.45600	0.655000	0.94253	CGG		0.527	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		24	164	0	0	0	1	0	24	164					T	42685488	C	T	42685488	3	4	79	1	0	0	0	0	1	0	0	0	10490	759	27	1	4352	1	NKTR	3	42685488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4421	42685488	155336942	3963	14280											
ZBTB47	92999	broad.mit.edu	37	chr3	42705408	42705408	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaacatgaagcagtacttCgatgagcacatgaagaccca	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000232974.6	+	5	2138	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000457842.3_Silent_p.F243F			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AGCAGTACTTCGATGAGCACA	0.592																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(727-729)ttC>ttT		zinc finger and BTB domain containing 47							64	63	63					3																	42705408		2203	4299	6502	SO:0001819	synonymous_variant	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42705408C>T	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1857C>T	3.37:g.42705408C>T						ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000232974.6_Silent_p.F619F	p.F243F	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	5	2138	+			243					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	c.729C>T	CCDS46805.2																																																																																				0.592	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		25	88	0	0	0	1	0	25	88					T	42705408	C	T	42705408	2	4	79	1	0	0	0	0	0	0	0	1	17601	883	31	1		1	ZBTB47	3	42705408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19920	42705408	155317022	3964	14281											
KBTBD5	131377	broad.mit.edu	37	chr3	42727236	42727236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcgggcgggcgagcgCgagttcccgtgccatcgcct	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42727236C>T	ENST00000287777.4	+	1	226	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGGGCGAGCGCGAGTTCCCGT	0.682																																						ENST00000287777.4																			0											c.(124-126)cgC>cgT		kelch-like family member 40							38	31	33					3																	42727236		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42727236C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.126C>T	3.37:g.42727236C>T							p.R42R	NM_152393.2	NP_689606.2					1	226	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.126C>T	CCDS2703.1																																																																																				0.682	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		45	180	0	0	0	1	0	45	180					T	42727236	C	T	42727236	2	4	79	1	0	0	0	0	0	0	0	1	8026	755	27	1		1	KBTBD5	3	42727236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21828	42727236	155295194	3965	14282											
KBTBD5	131377	broad.mit.edu	37	chr3	42729786	42729786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcggtcatgtgctaCgacaggctgtgagcatggct	14	10	1	1	rs573886282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42729786C>T	ENST00000287777.4	+	2	1405	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	435					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TCATGTGCTACGACAGGCTGT	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		11786	0.0		0.0	False		,,,				2504	0.002					ENST00000287777.4																			0											c.(1303-1305)taC>taT		kelch-like family member 40							40	37	38					3																	42729786		2202	4300	6502	SO:0001819	synonymous_variant	131377							g.chr3:42729786C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1305C>T	3.37:g.42729786C>T							p.Y435Y	NM_152393.2	NP_689606.2					2	1405	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1305C>T	CCDS2703.1																																																																																				0.642	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		64	254	0	0	0	1	0	64	254					T	42729786	C	T	42729786	2	4	79	1	0	0	0	0	0	0	0	1	8026	547	19	1		1	KBTBD5	3	42729786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2550	42729786	155292644	3966	14283											
CCDC13	152206	broad.mit.edu	37	chr3	42775003	42775003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatcgcctgctgaggcCggggacttggtcaggcctgg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1468-1470)ccG>ccA		coiled-coil domain containing 13							127	140	136					3																	42775003		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42775003C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1470G>A	3.37:g.42775003C>T						CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.P490P	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			11	1553	-			490						Silent	SNP	ENST00000310232.6	37	c.1470G>A	CCDS2705.1																																																																																				0.547	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		214	1022	0	0	0	1	0	214	1022					T	42775003	C	T	42775003	2	4	79	1	0	0	0	0	0	0	0	1	2772	639	23	1		1	CCDC13	3	42775003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45217	42775003	155247427	3967	14284											
CCDC13	152206	broad.mit.edu	37	chr3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccgctcagctaccatgGcctgcagctgggcgactagg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1303-1305)gCc>gTc		coiled-coil domain containing 13							112	96	101					3																	42777266		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42777266G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1304C>T	3.37:g.42777266G>A	ENSP00000309836:p.Ala435Val					CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.A435V	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			10	1387	-			435						Missense_Mutation	SNP	ENST00000310232.6	37	c.1304C>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581586	0.28180	.	.	ENSG00000244607	ENST00000310232	T	0.24538	1.85	4.76	3.78	0.43462	.	0.732062	0.12831	N	0.435649	T	0.28300	0.0699	L	0.56769	1.78	0.24385	N	0.994771	P	0.46512	0.879	B	0.43536	0.423	T	0.08229	-1.0732	10	0.30078	T	0.28	.	11.422	0.49987	0.0:0.0:0.7064:0.2935	.	435	Q8IYE1	CCD13_HUMAN	V	435	ENSP00000309836:A435V	ENSP00000309836:A435V	A	-	2	0	CCDC13	42752270	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.925000	0.48884	2.202000	0.70862	0.511000	0.50034	GCC		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		87	470	0	0	0	1	0	87	470					A	42777266	G	A	42777266	3	1	79	1	0	0	0	0	1	0	0	0	2772	1203	42	2	871	2	CCDC13	3	42777266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263	42777266	155245164	3968	14285											
CCDC13	152206	broad.mit.edu	37	chr3	42781273	42781273	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttagctcttcaagctctctCtggaggacatcccgttcact	7	13	5	0	rs555512201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1015-1017)caG>caA		coiled-coil domain containing 13							149	129	136					3																	42781273		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42781273C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1017G>A	3.37:g.42781273C>T						CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.Q339Q	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			9	1100	-			339						Silent	SNP	ENST00000310232.6	37	c.1017G>A	CCDS2705.1																																																																																				0.532	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		79	371	0	0	0	1	0	79	371					T	42781273	C	T	42781273	2	4	79	1	0	0	0	0	0	0	0	1	2772	912	32	2		2	CCDC13	3	42781273	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4007	42781273	155241157	3969	14286											
CCBP2	1238	broad.mit.edu	37	chr3	42906716	42906716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcttggtgaggctgaGgcccgcaggccagggccggg	19	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	ENST00000422265.1	+	3	897	c.722G>T	c.(721-723)aGg>aTg	p.R241M	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	241					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GTGAGGCTGAGGCCCGCAGGC	0.537																																						ENST00000422265.1																			0											c.(721-723)aGg>aTg		atypical chemokine receptor 2							113	114	114					3																	42906716		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906716G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.722G>T	3.37:g.42906716G>T	ENSP00000416996:p.Arg241Met					CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M	p.R241M	NM_001296.4	NP_001287.2					3	897	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.722G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077645	0.36662	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.40476	1.03;1.03;1.03	4.49	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.353818	0.19894	N	0.103664	T	0.56978	0.2022	M	0.82630	2.6	0.09310	N	0.999997	D	0.57571	0.98	P	0.58780	0.845	T	0.49513	-0.8932	9	.	.	.	.	7.5575	0.27833	0.2964:0.0:0.7036:0.0	.	241	O00590	CCBP2_HUMAN	M	241	ENSP00000396150:R241M;ENSP00000416996:R241M;ENSP00000273145:R241M	.	R	+	2	0	CCBP2	42881720	0.001000	0.12720	0.988000	0.46212	0.545000	0.35147	-0.247000	0.08866	0.134000	0.18681	0.563000	0.77884	AGG		0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		150	786	1	0	2.38067e-61	1	2.9972e-61	150	786					T	42906716	G	T	42906716	3	4	79	1	0	0	0	0	1	0	0	0	2741	1000	35	3	724	3	CCBP2	3	42906716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125443	42906716	155115714	3970	14287											
CYP8B1	1582	broad.mit.edu	37	chr3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcttcctccctcacagccCgaatagcttctgggtgcttc	8	15	2	0	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587																																						ENST00000316161.4																			1	Substitution - Missense(1)	p.R306Q(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(916-918)cGg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	30	28	29		917	-10.3	0	3	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP8B1	NM_004391.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/502	42916392	2,13004	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916392C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.917G>A	3.37:g.42916392C>T	ENSP00000318867:p.Arg306Gln					CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.R306Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1241	-			306					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.917G>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	CYP8B1	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG		0.587	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		37	126	0	0	0	1	0	37	126					T	42916392	C	T	42916392	3	4	79	1	0	0	0	0	1	0	0	0	4209	652	23	1	592	1	CYP8B1	3	42916392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9676	42916392	155106038	3971	14288											
ZNF662	389114	broad.mit.edu	37	chr3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttgatcaacaccagaaaActcataatggagagaaggtc	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(637-639)Act>Cct		zinc finger protein 662							92	95	94					3																	42956202		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956202A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.637A>C	3.37:g.42956202A>C	ENSP00000446208:p.Thr213Pro					ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.T213P			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1006	+			213					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.637A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194592	0.22037	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.20598	2.06;2.06;2.06	3.29	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.23550	N	0.997432	B;B	0.31859	0.332;0.343	B;B	0.39217	0.148;0.294	T	0.31806	-0.9930	9	0.87932	D	0	.	6.2962	0.21087	0.7706:0.0:0.2294:0.0	.	239;213	F8W7S8;Q6ZS27	.;ZN662_HUMAN	P	213;239;213	ENSP00000405047:T213P;ENSP00000329264:T239P;ENSP00000446208:T213P	ENSP00000329264:T239P	T	+	1	0	ZNF662	42931206	0.000000	0.05858	0.314000	0.25224	0.475000	0.33008	0.550000	0.23345	0.062000	0.16340	0.454000	0.30748	ACT		0.378	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		108	437	0	0	0	1	0	108	437					C	42956202	A	C	42956202	3	2	79	1	0	0	0	0	1	0	0	0	18124	43	2	4	838	4	ZNF662	3	42956202	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39810	42956202	155066228	3972	14289											
ZNF662	389114	broad.mit.edu	37	chr3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatacatactggagagaAaccctttgaatgtaaggaat	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(820-822)aAa>aCa		zinc finger protein 662							90	87	88					3																	42956386		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956386A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.821A>C	3.37:g.42956386A>C	ENSP00000446208:p.Lys274Thr					ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.K274T			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1190	+			274					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.821A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210838	0.39102	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.17	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.77616	2.38	0.29025	N	0.886078	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.40327	-0.9569	9	0.87932	D	0	.	9.7081	0.40229	1.0:0.0:0.0:0.0	.	300;274	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	274;300;274	ENSP00000405047:K274T;ENSP00000329264:K300T;ENSP00000446208:K274T	ENSP00000329264:K300T	K	+	2	0	ZNF662	42931390	0.523000	0.26274	1.000000	0.80357	0.994000	0.84299	1.259000	0.32956	1.468000	0.48064	0.454000	0.30748	AAA		0.438	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		64	317	0	0	0	1	0	64	317					C	42956386	A	C	42956386	3	2	79	1	0	0	0	0	1	0	0	0	18124	14	1	4	1022	4	ZNF662	3	42956386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	42956386	155066044	3973	14290											
ZNF662	389114	broad.mit.edu	37	chr3	42956441	42956441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaacacaagccttacGcaacatcaacggatccacac	6	14	2	1	rs369433622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956441G>A	ENST00000541208.1	+	5	1245	c.876G>A	c.(874-876)acG>acA	p.T292T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Silent_p.T318T|ZNF662_ENST00000440367.2_Silent_p.T292T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(874-876)acG>acA		zinc finger protein 662		G	,	1,4405	2.1+/-5.4	0,1,2202	103	91	95		954,876	0.5	1	3		95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF662	NM_001134656.1,NM_207404.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	318/453,292/427	42956441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956441G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.876G>A	3.37:g.42956441G>A						ZNF662_ENST00000328199.6_Silent_p.T318T|ZNF662_ENST00000440367.2_Silent_p.T292T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.T292T			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1245	+			292					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Silent	SNP	ENST00000541208.1	37	c.876G>A	CCDS2708.1																																																																																				0.453	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		53	248	0	0	0	1	0	53	248					A	42956441	G	A	42956441	2	1	79	1	0	0	0	0	0	0	0	1	18124	1074	38	1		1	ZNF662	3	42956441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	42956441	155065989	3974	14291											
ZNF662	389114	broad.mit.edu	37	chr3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagccttacgaatgtaagGactgtgggaagggcttcatg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1006-1008)Gac>Aac		zinc finger protein 662							90	84	86					3																	42956571		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956571G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1006G>A	3.37:g.42956571G>A	ENSP00000446208:p.Asp336Asn					ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.D336N			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1375	+			336					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1006G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673663	0.47781	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07327	3.2;3.2;3.2	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.25485	0.75	0.23162	N	0.998194	B;B	0.33919	0.378;0.432	B;B	0.33392	0.101;0.163	T	0.28808	-1.0032	9	0.87932	D	0	.	11.6396	0.51224	0.0:0.0:1.0:0.0	.	362;336	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	336;362;336	ENSP00000405047:D336N;ENSP00000329264:D362N;ENSP00000446208:D336N	ENSP00000329264:D362N	D	+	1	0	ZNF662	42931575	0.003000	0.15002	0.985000	0.45067	0.969000	0.65631	0.686000	0.25392	1.665000	0.50811	0.555000	0.69702	GAC		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		62	203	0	0	0	1	0	62	203					A	42956571	G	A	42956571	3	1	79	1	0	0	0	0	1	0	0	0	18124	1174	41	2	1207	2	ZNF662	3	42956571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130	42956571	155065859	3975	14292											
C3orf39	84892	broad.mit.edu	37	chr3	43121639	43121639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccgtgggacctcacGgctttgcaggatacgggctt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43121639G>A	ENST00000344697.2	-	2	1630	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R429C	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	429					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GGGACCTCACGGCTTTGCAGG	0.602																																						ENST00000344697.2																			0											c.(1285-1287)Cgt>Tgt									40	39	39					3																	43121639		2203	4300	6503	SO:0001583	missense	0							g.chr3:43121639G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1285C>T	3.37:g.43121639G>A	ENSP00000344125:p.Arg429Cys					GTDC2_ENST00000441964.1_Missense_Mutation_p.R429C	p.R429C	NM_032806.4	NP_116195.2					2	1630	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1285C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190638	0.38707	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.77489	-1.1;-1.1	5.23	4.36	0.52297	.	0.346611	0.27886	N	0.017460	T	0.64159	0.2573	L	0.44542	1.39	0.43347	D	0.995409	P	0.45212	0.853	B	0.34452	0.183	T	0.66388	-0.5936	10	0.62326	D	0.03	-18.827	7.1044	0.25356	0.0847:0.0:0.6494:0.2658	.	429	Q8NAT1	AGO61_HUMAN	C	429	ENSP00000408992:R429C;ENSP00000344125:R429C	ENSP00000344125:R429C	R	-	1	0	C3orf39	43096643	1.000000	0.71417	0.943000	0.38184	0.706000	0.40770	3.364000	0.52328	1.350000	0.45770	0.650000	0.86243	CGT		0.602	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		44	173	0	0	0	1	0	44	173					A	43121639	G	A	43121639	3	1	79	1	0	0	0	0	1	0	0	0	2236	1116	39	1	461	1	C3orf39	3	43121639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165068	43121639	154900791	3976	14293											
SNRK	54861	broad.mit.edu	37	chr3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttggaccagcatggcaGgatttaagcgagggtatgat	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGCATGGCAGGATTTAAGCG	0.363																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(7-9)Gga>Tga		SNF related kinase							88	84	85					3																	43344702		1825	4087	5912	SO:0001587	stop_gained	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43344702G>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.7G>T	3.37:g.43344702G>T	ENSP00000296088:p.Gly3*					SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR	p.G3*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	311	+			3						Nonsense_Mutation	SNP	ENST00000296088.7	37	c.7G>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126873	0.98667	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8493	0.85989	0.0:0.1286:0.8714:0.0	.	.	.	.	X	3	.	ENSP00000296088:G3X	G	+	1	0	SNRK	43319706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.425000	0.47237	0.655000	0.94253	GGA		0.363	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		51	249	1	0	2.0833e-19	1	2.32388e-19	51	249					T	43344702	G	T	43344702	4	4	79	1	0	0	0	0	0	1	0	0	14901	1001	35	3	9	3	SNRK	3	43344702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223063	43344702	154677728	3977	14294											
SNRK	54861	broad.mit.edu	37	chr3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggcggaagtgtctgtTcagggtggaagaagatgaag	18	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGTGTCTGTTCAGGGTGGAA	0.537																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(1327-1329)tTc>tGc		SNF related kinase							97	106	103					3																	43389079		2011	4186	6197	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389079T>G	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1328T>G	3.37:g.43389079T>G	ENSP00000296088:p.Phe443Cys					SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA	p.F443C	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	1632	+			443						Missense_Mutation	SNP	ENST00000296088.7	37	c.1328T>G	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423784	0.62733	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.39	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.73751	-0.3884	10	0.39692	T	0.17	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	443	Q9NRH2	SNRK_HUMAN	C	443;443;443;237	ENSP00000401246:F443C;ENSP00000411375:F443C;ENSP00000296088:F443C;ENSP00000409516:F237C	ENSP00000296088:F443C	F	+	2	0	SNRK	43364083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.685000	0.68204	1.867000	0.54127	0.460000	0.39030	TTC		0.537	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		43	149	0	0	0	1	0	43	149					G	43389079	T	G	43389079	3	3	79	1	0	0	0	0	1	0	0	0	14901	1783	62	4	1346	4	SNRK	3	43389079	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44377	43389079	154633351	3978	14295											
ANO10	55129	broad.mit.edu	37	chr3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagattttcaagttcatgtTtgataatgaattgacattct	6	4	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000292246.3	-	4	556	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	129					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(385-387)aAa>aGa		anoctamin 10							126	120	122					3																	43640110		2203	4296	6499	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43640110T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.386A>G	3.37:g.43640110T>C	ENSP00000292246:p.Lys129Arg					ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R	p.K129R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			4	556	-			129					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.386A>G	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732828	0.89482	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T;D;D;D	0.86030	0.14;-0.74;0.16;0.17;1.98;1.93;-2.06;-2.06;-2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.66297	2.02	0.80722	D	1	P;D;P;P	0.71674	0.897;0.998;0.569;0.897	P;D;B;P	0.80764	0.562;0.994;0.382;0.562	D	0.88224	0.2899	10	0.19147	T	0.46	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	129;129;63;129	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	R	129;129;63;129;129;129;129;129;129	ENSP00000292246:K129R;ENSP00000327767:K129R;ENSP00000379398:K63R;ENSP00000396990:K129R;ENSP00000406432:K129R;ENSP00000402010:K129R;ENSP00000402845:K129R;ENSP00000399103:K129R;ENSP00000397360:K129R	ENSP00000292246:K129R	K	-	2	0	ANO10	43615114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.244000	0.73946	0.533000	0.62120	AAA		0.289	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		20	96	0	0	0	1	0	20	96					C	43640110	T	C	43640110	3	2	79	1	0	0	0	0	1	0	0	0	696	1841	64	4	1636	4	ANO10	3	43640110	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251031	43640110	154382320	3979	14296											
C3orf23	285343	broad.mit.edu	37	chr3	44409153	44409153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttactggattcaaggaCcctgatgaagaccttgaaca	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44409153C>T	ENST00000342649.4	+	5	952	c.525C>T	c.(523-525)gaC>gaT	p.D175D	TCAIM_ENST00000417237.1_Silent_p.D175D	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	175						mitochondrion (GO:0005739)											GATTCAAGGACCCTGATGAAG	0.388																																						ENST00000342649.4																			0											c.(523-525)gaC>gaT		T cell activation inhibitor, mitochondrial							50	48	49					3																	44409153		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44409153C>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.525C>T	3.37:g.44409153C>T						TCAIM_ENST00000417237.1_Silent_p.D175D	p.D175D	NM_173826.3	NP_776187.2					5	952	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.525C>T	CCDS2712.1																																																																																				0.388	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		24	113	0	0	0	1	0	24	113					T	44409153	C	T	44409153	2	4	79	1	0	0	0	0	0	0	0	1	2223	506	18	2		2	C3orf23	3	44409153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	769043	44409153	153613277	3980	14297											
ZNF445	353274	broad.mit.edu	37	chr3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtcctgactaaaagAtggcccgccctcaggttttc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000396077.2	-	8	2571	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	742					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGACTAAAAGATGGCCCGCCC	0.493																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2224-2226)Tct>Cct		zinc finger protein 445							93	96	95					3																	44488939		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488939A>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2224T>C	3.37:g.44488939A>G	ENSP00000379387:p.Ser742Pro					ZNF445_ENST00000396077.2_Missense_Mutation_p.S742P	p.S742P			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2565	-			742					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2224T>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	a	6.331	0.429117	0.11987	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-1.7	0.08159	.	0.978073	0.08342	N	0.960721	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	10	0.54805	T	0.06	.	4.0757	0.09902	0.5766:0.0:0.2754:0.148	.	730;742	B7ZKX2;P59923	.;ZN445_HUMAN	P	742	ENSP00000413073:S742P;ENSP00000379387:S742P	ENSP00000379387:S742P	S	-	1	0	ZNF445	44463943	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-1.272000	0.02826	-0.315000	0.08703	0.255000	0.18592	TCT		0.493	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		60	453	0	0	0	1	0	60	453					G	44488939	A	G	44488939	3	3	79	1	0	0	0	0	1	0	0	0	17971	333	12	4	875	4	ZNF445	3	44488939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79786	44488939	153533491	3981	14298											
ZNF445	353274	broad.mit.edu	37	chr3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggctccaggtggtcccCcagagcagagctgctcctga	15	13	0	3	rs199898781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000396077.2	-	4	885	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	180					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGTGGTCCCCCAGAGCAGAG	0.587																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(538-540)Ggg>Agg		zinc finger protein 445							108	110	109					3																	44492866		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44492866C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.538G>A	3.37:g.44492866C>T	ENSP00000379387:p.Gly180Arg					ZNF445_ENST00000396077.2_Missense_Mutation_p.G180R	p.G180R			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	879	-			180					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.538G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319933	0.41096	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05855	3.38;3.38	4.63	2.73	0.32206	.	0.311846	0.23426	N	0.048304	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.45913	0.497;0.497	T	0.30909	-0.9962	10	0.40728	T	0.16	.	7.562	0.27857	0.1891:0.6282:0.1827:0.0	.	180;180	B7ZKX2;P59923	.;ZN445_HUMAN	R	180;180;173;178	ENSP00000413073:G180R;ENSP00000379387:G180R	ENSP00000342436:G173R	G	-	1	0	ZNF445	44467870	0.000000	0.05858	0.140000	0.22221	0.991000	0.79684	0.103000	0.15292	0.625000	0.30304	0.491000	0.48974	GGG		0.587	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		154	615	0	0	0	1	0	154	615					T	44492866	C	T	44492866	3	4	79	1	0	0	0	0	1	0	0	0	17971	623	22	2	2577	2	ZNF445	3	44492866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3927	44492866	153529564	3982	14299											
ZNF445	353274	broad.mit.edu	37	chr3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggataggcagcatgCcacctgcctggaggcatcac	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000396077.2	-	3	365	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	6					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(16-18)tgG>tgA		zinc finger protein 445							45	44	44					3																	44497024		2203	4300	6503	SO:0001587	stop_gained	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44497024C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.18G>A	3.37:g.44497024C>T	ENSP00000379387:p.Trp6*					ZNF445_ENST00000396077.2_Nonsense_Mutation_p.W6*	p.W6*			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	2	359	-			6					Q3MJD1	Nonsense_Mutation	SNP	ENST00000396077.2	37	c.18G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876041	0.72180	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	.	.	.	4.02	2.16	0.27623	.	0.195054	0.25935	N	0.027348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.4626	0.44590	0.0:0.6173:0.3827:0.0	.	.	.	.	X	6	.	ENSP00000342436:W6X	W	-	3	0	ZNF445	44472028	0.086000	0.21541	0.614000	0.29051	0.414000	0.31173	0.126000	0.15769	0.621000	0.30232	0.563000	0.77884	TGG		0.547	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		58	279	0	0	0	1	0	58	279					T	44497024	C	T	44497024	4	4	79	1	0	0	0	0	0	1	0	0	17971	740	26	2	3101	2	ZNF445	3	44497024	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4158	44497024	153525406	3983	14300											
ZNF167	55888	broad.mit.edu	37	chr3	44611810	44611810	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaccttattggccatcagaGaatccacactggagagaaac	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44611810G>T	ENST00000273320.3	+	6	1637	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R403I|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	403					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)										GGCCATCAGAGAATCCACACT	0.458																																						ENST00000273320.3																			0											c.(1207-1209)aGa>aTa		zinc finger with KRAB and SCAN domains 7							78	80	79					3																	44611810		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44611810G>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1208G>T	3.37:g.44611810G>T	ENSP00000273320:p.Arg403Ile					ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R403I|RP11-944L7.4_ENST00000457331.1_RNA	p.R403I	NM_018651.2	NP_061121.2					6	1637	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1208G>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721031	0.68959	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.24908	1.83;1.83;4.29	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.39384	0.1076	L	0.31664	0.95	0.48632	D	0.999684	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.30475	-0.9977	10	0.59425	D	0.04	-13.1671	15.8256	0.78703	0.0:0.0:1.0:0.0	.	273;403	A7MAY2;Q9P0L1	.;ZN167_HUMAN	I	403;403;252	ENSP00000395524:R403I;ENSP00000273320:R403I;ENSP00000405034:R252I	ENSP00000273320:R403I	R	+	2	0	ZNF167	44586814	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	0.358000	0.20216	2.267000	0.75376	0.650000	0.86243	AGA		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		51	510	1	0	3.4597e-24	1	3.94879e-24	51	510					T	44611810	G	T	44611810	3	4	79	1	0	0	0	0	1	0	0	0	17794	942	33	3	1226	3	ZNF167	3	44611810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114786	44611810	153410620	3984	14301											
ZNF167	55888	broad.mit.edu	37	chr3	44612305	44612305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggagtaaatgtcttattcGacatcagagcctccatactg	8	10	2	1	rs147008651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44612305G>A	ENST00000273320.3	+	6	2132	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R568Q|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	568					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)										TGTCTTATTCGACATCAGAGC	0.428													.|||	2	0.000399361	0.0015	0.0	5008	,	,		18871	0.0		0.0	False		,,,				2504	0.0					ENST00000273320.3																			0											c.(1702-1704)cGa>cAa		zinc finger with KRAB and SCAN domains 7							90	90	90					3																	44612305		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44612305G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1703G>A	3.37:g.44612305G>A	ENSP00000273320:p.Arg568Gln					ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R568Q|RP11-944L7.4_ENST00000457331.1_RNA	p.R568Q	NM_018651.2	NP_061121.2					6	2132	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1703G>A	CCDS2715.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	.	10.42	1.346322	0.24426	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.26223	1.75;1.75	4.21	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.348037	0.16505	N	0.211495	T	0.09862	0.0242	L	0.31526	0.94	0.09310	N	0.999999	B	0.25609	0.13	B	0.17979	0.02	T	0.26360	-1.0105	10	0.09084	T	0.74	-4.0189	7.4684	0.27334	0.2833:0.0:0.7167:0.0	.	568	Q9P0L1	ZN167_HUMAN	Q	568;568;6	ENSP00000395524:R568Q;ENSP00000273320:R568Q	ENSP00000273320:R568Q	R	+	2	0	ZNF167	44587309	0.000000	0.05858	1.000000	0.80357	0.894000	0.52154	-2.636000	0.00867	0.996000	0.38943	0.655000	0.94253	CGA		0.428	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		25	431	0	0	0	1	0	25	431					A	44612305	G	A	44612305	3	1	79	1	0	0	0	0	1	0	0	0	17794	1058	37	1	1721	1	ZNF167	3	44612305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495	44612305	153410125	3985	14302											
ZNF660	285349	broad.mit.edu	37	chr3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagcctttagtcagaGtgcaaacctcacagtacatg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(184-186)aGt>aTt		zinc finger protein 660							103	99	100					3																	44635870		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635870G>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.185G>T	3.37:g.44635870G>T	ENSP00000324605:p.Ser62Ile					RP11-944L7.4_ENST00000457331.1_RNA	p.S62I	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	518	+			62					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.185G>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765432	0.49574	.	.	ENSG00000144792	ENST00000322734	T	0.07800	3.16	4.46	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.25332	0.735	0.25836	N	0.984119	B	0.24576	0.106	B	0.23150	0.044	T	0.30060	-0.9991	8	.	.	.	.	5.1292	0.14901	0.1005:0.0:0.5758:0.3236	.	62	Q6AZW8	ZN660_HUMAN	I	62	ENSP00000324605:S62I	.	S	+	2	0	ZNF660	44610874	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.305000	0.08188	2.469000	0.83416	0.655000	0.94253	AGT		0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		75	223	1	0	6.72169e-28	1	7.80062e-28	75	223					T	44635870	G	T	44635870	3	4	79	1	0	0	0	0	1	0	0	0	18123	1029	36	3	187	3	ZNF660	3	44635870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23565	44635870	153386560	3986	14303											
ZNF660	285349	broad.mit.edu	37	chr3	44636401	44636401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatgaacaccagagacTtcatcgtagagagaaacctt	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44636401T>G	ENST00000322734.2	+	3	1049	c.716T>G	c.(715-717)cTt>cGt	p.L239R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CACCAGAGACTTCATCGTAGA	0.388																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(715-717)cTt>cGt		zinc finger protein 660							74	77	76					3																	44636401		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636401T>G	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.716T>G	3.37:g.44636401T>G	ENSP00000324605:p.Leu239Arg					RP11-944L7.4_ENST00000457331.1_RNA	p.L239R	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1049	+			239					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.716T>G	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454121	0.63290	.	.	ENSG00000144792	ENST00000322734	T	0.13307	2.6	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.16016	0.355	0.80722	D	1	D	0.55385	0.971	P	0.46144	0.505	T	0.24870	-1.0148	8	.	.	.	.	12.9362	0.58316	0.0:0.0:0.0:1.0	.	239	Q6AZW8	ZN660_HUMAN	R	239	ENSP00000324605:L239R	.	L	+	2	0	ZNF660	44611405	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.376000	0.20535	1.943000	0.56356	0.528000	0.53228	CTT		0.388	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		9	396	0	0	0	1	0	9	396					G	44636401	T	G	44636401	3	3	79	1	0	0	0	0	1	0	0	0	18123	1609	56	4	718	4	ZNF660	3	44636401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	44636401	153386029	3987	14304											
ZNF35	7584	broad.mit.edu	37	chr3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatcttattgtacatcagCgaagccatactggtgagaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	382					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(1144-1146)Cga>Tga		zinc finger protein 35							67	76	73					3																	44700999		2203	4300	6503	SO:0001587	stop_gained	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700999C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1144C>T	3.37:g.44700999C>T	ENSP00000379368:p.Arg382*					ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|RP11-944L7.4_ENST00000457331.1_RNA	p.R382*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1379	+		Ovarian(412;0.0228)	382					B2RBU6|Q53Y54|Q96D01	Nonsense_Mutation	SNP	ENST00000396056.2	37	c.1144C>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	36	5.886527	0.97068	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	5.29	3.41	0.39046	.	0.000000	0.37669	N	0.001982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7148	12.6574	0.56795	0.4732:0.5268:0.0:0.0	.	.	.	.	X	382;222	.	ENSP00000379368:R382X	R	+	1	2	ZNF35	44676003	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.397000	0.07269	1.441000	0.47550	0.561000	0.74099	CGA		0.468	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		41	213	0	0	0	1	0	41	213					T	44700999	C	T	44700999	4	4	79	1	0	0	0	0	0	1	0	0	17915	760	27	1	1154	1	ZNF35	3	44700999	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64598	44700999	153321431	3988	14305											
ZNF502	91392	broad.mit.edu	37	chr3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatgtggctcttcttttcGaaaacactcaaatcttacgc	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTTCTTTTCGAAAACACTCA	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)cGa>cAa		zinc finger protein 502							160	167	165					3																	44763223		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763223G>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.914G>A	3.37:g.44763223G>A	ENSP00000296091:p.Arg305Gln					ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q|ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q	p.R305Q	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1170	+			305						Missense_Mutation	SNP	ENST00000296091.4	37	c.914G>A	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.531824|2.531824	0.45073|0.45073	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	4.27|4.27	2.42|2.42	0.29668|0.29668	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.45698|0.45698	1.435|1.435	0.09310|0.09310	N|N	1|1	.|P	.|0.46987	.|0.888	.|B	.|0.42593	.|0.392	T|T	0.20306|0.20306	-1.0279|-1.0279	6|9	0.33141|0.62326	T|D	0.24|0.03	-0.978|-0.978	2.7889|2.7889	0.05381|0.05381	0.102:0.1842:0.5241:0.1897|0.102:0.1842:0.5241:0.1897	.|.	.|305	.|Q8TBZ5	.|ZN502_HUMAN	K|Q	305|305	.|ENSP00000397390:R305Q;ENSP00000296091:R305Q;ENSP00000406469:R305Q	ENSP00000397812:E305K|ENSP00000296091:R305Q	E|R	+|+	1|2	0|0	ZNF502|ZNF502	44738227|44738227	0.000000|0.000000	0.05858|0.05858	0.261000|0.261000	0.24466|0.24466	0.936000|0.936000	0.57629|0.57629	-0.329000|-0.329000	0.07935|0.07935	0.540000|0.540000	0.28808|0.28808	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		202	859	0	0	0	1	0	202	859					A	44763223	G	A	44763223	3	1	79	1	0	0	0	0	1	0	0	0	18003	1058	37	1	920	1	ZNF502	3	44763223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62224	44763223	153259207	3989	14306											
ZNF501	115560	broad.mit.edu	37	chr3	44776675	44776675	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttggatgtgggaaatcCtttaggcacagttcagcact	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAATCCTTTAGGCACA	0.403																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(760-762)tcC>tcA		zinc finger protein 501							70	72	71					3																	44776675		2031	4228	6259	SO:0001819	synonymous_variant	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776675C>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.762C>A	3.37:g.44776675C>A							p.S254S	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	1199	+			254					B4DLY7|Q96NU9	Silent	SNP	ENST00000396048.2	37	c.762C>A	CCDS2720.2																																																																																				0.403	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		58	250	1	0	9.59449e-18	1	1.06118e-17	58	250					A	44776675	C	A	44776675	2	1	79	1	0	0	0	0	0	0	0	1	18002	668	24	3		3	ZNF501	3	44776675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13452	44776675	153245755	3990	14307											
KIAA1143	57456	broad.mit.edu	37	chr3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggtccctccctgtagcCgacccgttccttgaagcggg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	26										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCCCTGTAGCCGACCCGTTCC	0.592																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(76-78)Ggc>Agc		KIAA1143							32	38	36					3																	44803019		2203	4300	6503	SO:0001583	missense	57456							g.chr3:44803019C>T	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.76G>A	3.37:g.44803019C>T	ENSP00000296121:p.Gly26Ser						p.G26S	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	1	135	-			26					A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	37	c.76G>A	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828275	0.96996	.	.	ENSG00000163807	ENST00000296121	T	0.56444	0.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78555	-0.2159	9	.	.	.	-14.2314	18.8395	0.92177	0.0:1.0:0.0:0.0	.	26	Q96AT1	K1143_HUMAN	S	26	ENSP00000296121:G26S	.	G	-	1	0	KIAA1143	44778023	1.000000	0.71417	0.982000	0.44146	0.922000	0.55478	5.590000	0.67530	2.762000	0.94881	0.655000	0.94253	GGC		0.592	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		52	210	0	0	0	1	0	52	210					T	44803019	C	T	44803019	3	4	79	1	0	0	0	0	1	0	0	0	8239	652	23	1	400	1	KIAA1143	3	44803019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26344	44803019	153219411	3991	14308											
KIF15	56992	broad.mit.edu	37	chr3	44867540	44867540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttataaaggttagaaaaCgaaaagctgcttgagagcaa	9	6	0	2	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	853					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGTTAGAAAACGAAAAGCTGC	0.308																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2557-2559)aaC>aaT		kinesin family member 15		C		0,4404		0,0,2202	48	54	52		2559	0.4	1	3	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF15	NM_020242.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		853/1389	44867540	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44867540C>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2559C>T	3.37:g.44867540C>T						KIF15_ENST00000425755.1_Silent_p.N488N	p.N853N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	21	2708	+			853					Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.2559C>T	CCDS33744.1																																																																																				0.308	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			37	283	0	0	0	1	0	37	283					T	44867540	C	T	44867540	2	4	79	1	0	0	0	0	0	0	0	1	8307	535	19	1		1	KIF15	3	44867540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64521	44867540	153154890	3992	14309											
KIF15	56992	broad.mit.edu	37	chr3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaactctgaaatctgatCtgaatgtatgttaagaaggg	10	4	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	899					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAATCTGATCTGAATGTATG	0.368																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2695-2697)Ctg>Atg		kinesin family member 15							118	134	129					3																	44867676		2202	4300	6502	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44867676C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2695C>A	3.37:g.44867676C>A	ENSP00000324020:p.Leu899Met					KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	p.L899M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	21	2844	+			899					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.2695C>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983609	0.53827	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59906	0.23;0.23;0.23	5.72	4.85	0.62838	.	0.000000	0.40908	D	0.000998	T	0.70859	0.3272	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.73493	-0.3965	10	0.59425	D	0.04	.	13.7611	0.62966	0.0:0.9248:0.0:0.0752	.	899	Q9NS87	KIF15_HUMAN	M	899;671;898;534	ENSP00000324020:L899M;ENSP00000425499:L671M;ENSP00000389982:L534M	ENSP00000324020:L899M	L	+	1	2	KIF15	44842680	0.712000	0.27916	0.985000	0.45067	0.522000	0.34438	1.053000	0.30442	1.431000	0.47355	0.591000	0.81541	CTG		0.368	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			21	624	1	0	3.62473e-10	1	3.83521e-10	21	624					A	44867676	C	A	44867676	3	1	79	1	0	0	0	0	1	0	0	0	8307	912	32	3	2777	3	KIF15	3	44867676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	44867676	153154754	3993	14310											
KIF15	56992	broad.mit.edu	37	chr3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctacagtgcaaatacaaCtctgctttggttgacagaga	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1020					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCAAATACAACTCTGCTTTGG	0.383																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3058-3060)aaC>aaA		kinesin family member 15							109	106	107					3																	44872399		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44872399C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3060C>A	3.37:g.44872399C>A	ENSP00000324020:p.Asn1020Lys					KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	p.N1020K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	26	3209	+			1020					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3060C>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714539	0.48622	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	6.06	2.31	0.28768	.	0.222711	0.30791	N	0.008861	T	0.34366	0.0895	M	0.62723	1.935	0.29249	N	0.872134	P	0.42078	0.77	B	0.38803	0.282	T	0.20974	-1.0259	10	0.26408	T	0.33	.	7.2452	0.26117	0.0:0.4867:0.0:0.5133	.	1020	Q9NS87	KIF15_HUMAN	K	1020;1019;655	ENSP00000324020:N1020K;ENSP00000389982:N655K	ENSP00000324020:N1020K	N	+	3	2	KIF15	44847403	0.018000	0.18449	0.989000	0.46669	0.997000	0.91878	0.340000	0.19892	0.442000	0.26555	0.655000	0.94253	AAC		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			95	381	1	0	1.37074e-43	1	1.67417e-43	95	381					A	44872399	C	A	44872399	3	1	79	1	0	0	0	0	1	0	0	0	8307	564	20	3	3162	3	KIF15	3	44872399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4723	44872399	153150031	3994	14311											
TGM4	7047	broad.mit.edu	37	chr3	44929289	44929289	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtctggcaaagaggTgagcacccactgggctggcg	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.e3+2		transglutaminase 4	L-Glutamine(DB00130)						62	57	59					3																	44929289		2203	4300	6503	SO:0001630	splice_region_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44929289T>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.300+2T>C	3.37:g.44929289T>C								NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	3	368	+								Q16707|Q96QN4	Splice_Site	SNP	ENST00000296125.4	37		CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440020	0.12104	.	.	ENSG00000163810	ENST00000296125	.	.	.	1.43	0.123	0.14709	.	.	.	.	.	.	.	.	.	.	.	0.23210	N	0.99811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2294	0.10596	0.0:0.0:0.3643:0.6357	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44904293	0.905000	0.30787	0.120000	0.21714	0.050000	0.14768	0.458000	0.21892	0.024000	0.15214	0.383000	0.25322	.		0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	Intron	38	153	0	0	0	1	0	38	153					C	44929289	T	C	44929289	5	2	79	1	0	0	0	0	0	0	1	0	15884	1710	59	4	312	4	TGM4	3	44929289	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56890	44929289	153093141	3995	14312											
TGM4	7047	broad.mit.edu	37	chr3	44943361	44943361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagaaaggaacctcacGgtggacacctatgtgaatga	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	303					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T303T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542																																						ENST00000296125.4																			1	Substitution - coding silent(1)	p.T303T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(907-909)acG>acA		transglutaminase 4	L-Glutamine(DB00130)						127	117	121					3																	44943361		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943361G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.909G>A	3.37:g.44943361G>A							p.T303T	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	977	+			303					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.909G>A	CCDS2723.1																																																																																				0.542	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		46	207	0	0	0	1	0	46	207					A	44943361	G	A	44943361	2	1	79	1	0	0	0	0	0	0	0	1	15884	1103	39	1		1	TGM4	3	44943361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14072	44943361	153079069	3996	14313											
CDCP1	64866	broad.mit.edu	37	chr3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccagctttatgagaaCtgtaatgttgctttctcgtg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	42						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(124-126)Gtt>Att		CUB domain containing protein 1							93	93	93					3																	45160072		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160072C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.124G>A	3.37:g.45160072C>T	ENSP00000296129:p.Val42Ile					CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	p.V42I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	258	-			42					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.124G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635392	0.29068	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.53857	1.83;0.6	5.33	-1.17	0.09648	.	0.485400	0.22915	N	0.054087	T	0.32852	0.0843	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.007;0.011	T	0.30268	-0.9984	10	0.07813	T	0.8	-4.6003	7.1109	0.25390	0.0:0.3763:0.1189:0.5048	.	42;42	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	42	ENSP00000296129:V42I;ENSP00000399342:V42I	ENSP00000296129:V42I	V	-	1	0	CDCP1	45135076	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.837000	0.04377	-0.434000	0.07275	0.561000	0.74099	GTT		0.438	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		63	322	0	0	0	1	0	63	322					T	45160072	C	T	45160072	3	4	79	1	0	0	0	0	1	0	0	0	3102	565	20	2	2426	2	CDCP1	3	45160072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216711	45160072	152862358	3997	14314											
LARS2	23395	broad.mit.edu	37	chr3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgcctgctgaaaatgccGcagtcgagaggaatctacat	11	9	1	2	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000414984.1_Missense_Mutation_p.A96T|LARS2_ENST00000265537.3_Missense_Mutation_p.A139T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	139					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(415-417)Gca>Aca		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)	G	THR/ALA	0,4406		0,0,2203	128	121	123		415	5.7	0.2	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	139/904	45459025	1,13005	2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45459025G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.415G>A	3.37:g.45459025G>A	ENSP00000408576:p.Ala139Thr					LARS2_ENST00000265537.3_Missense_Mutation_p.A139T|LARS2_ENST00000414984.1_Missense_Mutation_p.A96T	p.A139T			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	4	556	+			139						Missense_Mutation	SNP	ENST00000415258.1	37	c.415G>A	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627418	0.66901	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	D;D;D;T	0.81908	-1.55;-1.55;-1.55;1.61	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053586	0.64402	D	0.000001	D	0.94013	0.8082	H	0.97918	4.105	0.58432	D	0.999991	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	D	0.95830	0.8857	10	0.87932	D	0	-25.8708	16.8525	0.85998	0.0:0.0:1.0:0.0	.	96;139	E9PHM2;Q15031	.;SYLM_HUMAN	T	139;139;96;96	ENSP00000265537:A139T;ENSP00000408576:A139T;ENSP00000412893:A96T;ENSP00000406611:A96T	ENSP00000265537:A139T	A	+	1	0	LARS2	45434029	1.000000	0.71417	0.150000	0.22450	0.247000	0.25773	6.910000	0.75741	2.715000	0.92844	0.655000	0.94253	GCA		0.398	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		102	291	0	0	0	1	0	102	291					A	45459025	G	A	45459025	3	1	79	1	0	0	0	0	1	0	0	0	8666	1087	38	1	425	1	LARS2	3	45459025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	298953	45459025	152563405	3998	14315											
LARS2	23395	broad.mit.edu	37	chr3	45530205	45530205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggaattcccagtactagCtcagaggacaccatcttagc	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45530205C>T	ENST00000415258.1	+	11	1281	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.S337S|LARS2_ENST00000265537.3_Silent_p.S380S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCAGTACTAGCTCAGAGGACA	0.473																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1138-1140)agC>agT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						87	83	84					3																	45530205		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45530205C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1140C>T	3.37:g.45530205C>T						LARS2_ENST00000265537.3_Silent_p.S380S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.S337S	p.S380S			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	11	1281	+			380						Silent	SNP	ENST00000415258.1	37	c.1140C>T	CCDS2728.1																																																																																				0.473	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		12	270	0	0	0	1	0	12	270					T	45530205	C	T	45530205	2	4	79	1	0	0	0	0	0	0	0	1	8666	796	28	2		2	LARS2	3	45530205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71180	45530205	152492225	3999	14316											
LIMD1	8994	broad.mit.edu	37	chr3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtgtcccccagcatcGgcctgagtgtagggagtggg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000273317.4	+	1	622	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	201	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(601-603)Ggc>Agc		LIM domains containing 1							79	78	79					3																	45636972		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636972G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.601G>A	3.37:g.45636972G>A	ENSP00000273317:p.Gly201Ser					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S	p.G201S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	622	+			201					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.601G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	0.593	-0.832142	0.02713	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56275	0.47;0.67	4.7	0.984	0.19773	.	1.041780	0.07538	N	0.913381	T	0.23611	0.0571	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	.	7.038	0.25004	0.7254:0.0:0.2746:0.0	.	201	Q9UGP4	LIMD1_HUMAN	S	201	ENSP00000394537:G201S;ENSP00000273317:G201S	ENSP00000273317:G201S	G	+	1	0	LIMD1	45611976	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.767000	0.26575	-0.067000	0.12976	-0.379000	0.06801	GGC		0.597	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		63	312	0	0	0	1	0	63	312					A	45636972	G	A	45636972	3	1	79	1	0	0	0	0	1	0	0	0	8830	1116	39	1	603	1	LIMD1	3	45636972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106767	45636972	152385458	4000	14317											
LIMD1	8994	broad.mit.edu	37	chr3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccccaaccctggttccaGgatgggcccaaatcttacct	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000273317.4	+	1	1035	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	338					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1012-1014)caG>caT		LIM domains containing 1							84	86	85					3																	45637385		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637385G>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1014G>T	3.37:g.45637385G>T	ENSP00000273317:p.Gln338His					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H	p.Q338H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1035	+			338					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1014G>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.933986	0.18206	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.73	-1.52	0.08637	.	1.897850	0.02198	N	0.062043	T	0.39200	0.1069	N	0.19112	0.55	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	10	0.38643	T	0.18	.	2.7735	0.05341	0.2436:0.114:0.5113:0.1311	.	338	Q9UGP4	LIMD1_HUMAN	H	338	ENSP00000394537:Q338H;ENSP00000273317:Q338H	ENSP00000273317:Q338H	Q	+	3	2	LIMD1	45612389	0.008000	0.16893	0.753000	0.31225	0.579000	0.36224	-0.313000	0.08103	-0.172000	0.10779	-0.150000	0.13652	CAG		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		80	398	1	0	3.27973e-32	1	3.87147e-32	80	398					T	45637385	G	T	45637385	3	4	79	1	0	0	0	0	1	0	0	0	8830	991	35	3	1016	3	LIMD1	3	45637385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	413	45637385	152385045	4001	14318											
SLC6A20	54716	broad.mit.edu	37	chr3	45800611	45800611	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggtaatctttggtcacGagctggccctgaaaggagag	15	9	2	2	rs369964980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	546					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1636-1638)ctC>ctT		solute carrier family 6 (proline IMINO transporter), member 20		G	,	0,4406		0,0,2203	53	52	52		1638,1527	-5.9	0.7	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	546/593,509/556	45800611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800611G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1638C>T	3.37:g.45800611G>A						SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000456124.2_Intron	p.L546L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1753	-			546					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1638C>T	CCDS43077.1																																																																																				0.622	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		50	196	0	0	0	1	0	50	196					A	45800611	G	A	45800611	2	1	79	1	0	0	0	0	0	0	0	1	14734	1045	37	1		1	SLC6A20	3	45800611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163226	45800611	152221819	4002	14319											
SLC6A20	54716	broad.mit.edu	37	chr3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccttgggcaggtggCtggagatgatcttgctgtct	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	426					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1276-1278)aGc>aTc		solute carrier family 6 (proline IMINO transporter), member 20							68	58	62					3																	45807055		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45807055C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1277G>T	3.37:g.45807055C>A	ENSP00000346298:p.Ser426Ile					SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I	p.S426I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	8	1392	-			426					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1277G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	3.83	0.44106	.	0.394675	0.27604	N	0.018634	T	0.51024	0.1650	N	0.04297	-0.235	0.28033	N	0.934041	P;P	0.36144	0.483;0.539	B;B	0.40410	0.144;0.328	T	0.45131	-0.9282	10	0.23302	T	0.38	.	6.5329	0.22336	0.0:0.5856:0.2461:0.1682	.	389;426	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	389;426;426	ENSP00000296133:S389I;ENSP00000346298:S426I;ENSP00000404310:S426I	ENSP00000296133:S389I	S	-	2	0	SLC6A20	45782059	0.139000	0.22563	0.709000	0.30452	0.970000	0.65996	1.277000	0.33167	1.412000	0.46977	0.655000	0.94253	AGC		0.632	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		27	110	1	0	1.2476e-16	1	1.37204e-16	27	110					A	45807055	C	A	45807055	3	1	79	1	0	0	0	0	1	0	0	0	14734	797	28	3	517	3	SLC6A20	3	45807055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6444	45807055	152215375	4003	14320											
SLC6A20	54716	broad.mit.edu	37	chr3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcaggctgccgaagcccaGgccaagtgagaagaagatct	13	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	254					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(760-762)Ctg>Atg		solute carrier family 6 (proline IMINO transporter), member 20							144	121	129					3																	45812884		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812884G>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.760C>A	3.37:g.45812884G>T	ENSP00000346298:p.Leu254Met					SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M	p.L254M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	875	-			254					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.760C>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610749	0.66558	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.05	3.22	0.36961	.	0.000000	0.64402	D	0.000003	D	0.88366	0.6417	M	0.88570	2.965	0.38052	D	0.935792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89369	0.3673	10	0.72032	D	0.01	.	10.8715	0.46885	0.158:0.0:0.842:0.0	.	217;254	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	217;254;254;207	ENSP00000296133:L217M;ENSP00000346298:L254M;ENSP00000404310:L254M;ENSP00000395506:L207M	ENSP00000296133:L217M	L	-	1	2	SLC6A20	45787888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.690000	0.54713	0.499000	0.27970	0.467000	0.42956	CTG		0.582	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		55	242	1	0	2.73381e-35	1	3.26223e-35	55	242					T	45812884	G	T	45812884	3	4	79	1	0	0	0	0	1	0	0	0	14734	991	35	3	1042	3	SLC6A20	3	45812884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5829	45812884	152209546	4004	14321											
CCR9	10803	broad.mit.edu	37	chr3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggtgccttgggcaacagtCttgttatccttgtctactgg	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000357632.2	+	3	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000422395.1_Silent_p.V96V|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	68					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGCAACAGTCTTGTTATCCT	0.473																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(202-204)Ctt>Att		chemokine (C-C motif) receptor 9							261	218	233					3																	45942482		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942482C>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.202C>A	3.37:g.45942482C>A	ENSP00000350256:p.Leu68Ile					CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000422395.1_Silent_p.V96V|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron	p.L68I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	382	+			68					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.202C>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038359	0.35989	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.77877	-1.13;-1.13;-1.13	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.086825	0.48767	D	0.000176	D	0.86188	0.5873	M	0.82323	2.585	0.48696	D	0.999692	D	0.76494	0.999	D	0.75020	0.985	D	0.87005	0.2119	10	0.72032	D	0.01	.	6.6875	0.23154	0.0:0.7802:0.0:0.2198	.	68	P51686	CCR9_HUMAN	I	68;56;56	ENSP00000350256:L68I;ENSP00000379292:L56I;ENSP00000348260:L56I	ENSP00000348260:L56I	L	+	1	0	CCR9	45917486	0.925000	0.31364	0.943000	0.38184	0.007000	0.05969	1.241000	0.32743	2.392000	0.81423	0.563000	0.77884	CTT		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			212	814	1	0	9.14242e-86	1	1.1718e-85	212	814					A	45942482	C	A	45942482	3	1	79	1	0	0	0	0	1	0	0	0	2957	913	32	3	208	3	CCR9	3	45942482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129598	45942482	152079948	4005	14322											
FYCO1	79443	broad.mit.edu	37	chr3	46000959	46000959	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtttgcctctgtgtctccGagccatctctcctcagcact	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46000959G>A	ENST00000296137.2	-	12	3718	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	FYCO1_ENST00000438446.1_5'Flank|FYCO1_ENST00000535325.1_Silent_p.L1171L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1171					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTGTCTCCGAGCCATCTCT	0.577																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3511-3513)ctC>ctT		FYVE and coiled-coil domain containing 1							91	75	81					3																	46000959		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46000959G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3513C>T	3.37:g.46000959G>A						FYCO1_ENST00000535325.1_Silent_p.L1171L	p.L1171L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	12	3718	-			1171					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.3513C>T	CCDS2734.1																																																																																				0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		11	412	0	0	0	1	0	11	412					A	46000959	G	A	46000959	2	1	79	1	0	0	0	0	0	0	0	1	6152	1045	37	1		1	FYCO1	3	46000959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58477	46000959	152021471	4006	14323											
FYCO1	79443	broad.mit.edu	37	chr3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgctgcacaagggtTttgtgctccctcaggacggc	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	824					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCACAAGGGTTTTGTGCTCCC	0.607																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2470-2472)aaA>aaC		FYVE and coiled-coil domain containing 1							78	74	75					3																	46008354		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008354T>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2472A>C	3.37:g.46008354T>G	ENSP00000296137:p.Lys824Asn					FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2677	-			824					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2472A>C	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332887	0.24167	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.9;1.91	5.66	1.39	0.22231	.	0.532153	0.21892	N	0.067569	T	0.21761	0.0524	L	0.54323	1.7	0.09310	N	1	P;P	0.51653	0.947;0.736	B;B	0.40444	0.329;0.205	T	0.14476	-1.0471	10	0.31617	T	0.26	-25.2254	10.9744	0.47456	0.0:0.6381:0.0:0.3619	.	824;824	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	824	ENSP00000296137:K824N;ENSP00000441178:K824N	ENSP00000296137:K824N	K	-	3	2	FYCO1	45983358	0.015000	0.18098	0.196000	0.23383	0.560000	0.35617	0.498000	0.22530	0.360000	0.24265	-0.132000	0.14878	AAA		0.607	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		30	309	0	0	0	1	0	30	309					G	46008354	T	G	46008354	3	3	79	1	0	0	0	0	1	0	0	0	6152	1838	64	4	2008	4	FYCO1	3	46008354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7395	46008354	152014076	4007	14324											
FYCO1	79443	broad.mit.edu	37	chr3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttccagctgcgcctgagAcagggctagctgggcagcca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	774					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCGCCTGAGACAGGGCTAGC	0.632																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2320-2322)Tct>Cct		FYVE and coiled-coil domain containing 1							55	56	56					3																	46008506		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008506A>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2320T>C	3.37:g.46008506A>G	ENSP00000296137:p.Ser774Pro					FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2525	-			774					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2320T>C	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209595	0.22289	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21543	2.0;2.0	5.55	-0.343	0.12632	.	0.902870	0.09603	N	0.779956	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	P;B	0.36086	0.536;0.403	B;B	0.37198	0.243;0.086	T	0.26395	-1.0104	10	0.35671	T	0.21	-0.2682	8.0651	0.30657	0.382:0.4815:0.0:0.1365	.	774;774	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	P	774	ENSP00000296137:S774P;ENSP00000441178:S774P	ENSP00000296137:S774P	S	-	1	0	FYCO1	45983510	0.000000	0.05858	0.480000	0.27341	0.566000	0.35808	0.052000	0.14163	0.355000	0.24131	0.533000	0.62120	TCT		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		82	348	0	0	0	1	0	82	348					G	46008506	A	G	46008506	3	3	79	1	0	0	0	0	1	0	0	0	6152	275	10	4	2160	4	FYCO1	3	46008506	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	46008506	152013924	4008	14325											
FYCO1	79443	broad.mit.edu	37	chr3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttgtccagtgagtccCgtgtggcctcaagctcctgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	355					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGTGAGTCCCGTGTGGCCTC	0.602																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1063-1065)cGg>cAg		FYVE and coiled-coil domain containing 1							78	80	80					3																	46009762		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009762C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1064G>A	3.37:g.46009762C>T	ENSP00000296137:p.Arg355Gln					FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1269	-			355					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1064G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455606	0.12283	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.97;1.95	5.66	1.48	0.22813	.	0.449418	0.23916	N	0.043297	T	0.18551	0.0445	M	0.63843	1.955	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.42112	0.376;0.333	T	0.23619	-1.0183	10	0.19147	T	0.46	-19.4947	8.2526	0.31735	0.0:0.6544:0.0:0.3456	.	355;355	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	355	ENSP00000296137:R355Q;ENSP00000441178:R355Q	ENSP00000296137:R355Q	R	-	2	0	FYCO1	45984766	0.000000	0.05858	0.017000	0.16124	0.071000	0.16799	-1.523000	0.02235	-0.020000	0.14032	0.655000	0.94253	CGG		0.602	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		148	589	0	0	0	1	0	148	589					T	46009762	C	T	46009762	3	4	79	1	0	0	0	0	1	0	0	0	6152	652	23	1	3416	1	FYCO1	3	46009762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1256	46009762	152012668	4009	14326											
XCR1	2829	broad.mit.edu	37	chr3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaccttgtggaagatgGtgtcgaggatggaggacagg	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	165					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGAAGATGGTGTCGAGGAT	0.607																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(493-495)aCc>aTc		chemokine (C motif) receptor 1							61	61	61					3																	46062946		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062946G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.494C>T	3.37:g.46062946G>A	ENSP00000310405:p.Thr165Ile					XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	850	-			165						Missense_Mutation	SNP	ENST00000309285.3	37	c.494C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919378	0.02396	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36520	1.25;1.25	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.773393	0.12567	N	0.457631	T	0.12860	0.0312	N	0.02266	-0.62	0.19575	N	0.999965	B	0.14012	0.009	B	0.13407	0.009	T	0.31724	-0.9933	10	0.02654	T	1	.	7.2787	0.26300	0.2029:0.0:0.7971:0.0	.	165	P46094	XCR1_HUMAN	I	165	ENSP00000310405:T165I;ENSP00000438119:T165I	ENSP00000310405:T165I	T	-	2	0	XCR1	46037950	0.004000	0.15560	0.246000	0.24233	0.005000	0.04900	1.657000	0.37366	2.626000	0.88956	0.650000	0.86243	ACC		0.607	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			30	152	0	0	0	1	0	30	152					A	46062946	G	A	46062946	3	1	79	1	0	0	0	0	1	0	0	0	17479	1261	44	2	511	2	XCR1	3	46062946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53184	46062946	151959484	4010	14327											
XCR1	2829	broad.mit.edu	37	chr3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcctggttctcacacGgctggctctgaaggtcatag	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(61-63)cCg>cTg		chemokine (C motif) receptor 1							78	80	79					3																	46063378		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063378G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	3.37:g.46063378G>A	ENSP00000310405:p.Pro21Leu					XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	418	-			21						Missense_Mutation	SNP	ENST00000309285.3	37	c.62C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG		0.552	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			57	280	0	0	0	1	0	57	280					A	46063378	G	A	46063378	3	1	79	1	0	0	0	0	1	0	0	0	17479	1116	39	1	943	1	XCR1	3	46063378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	46063378	151959052	4011	14328											
CCR1	1230	broad.mit.edu	37	chr3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgcacagccacacGcctgtggaacaactgccgca	10	15	0	0	rs181920971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	319					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(955-957)Cgt>Tgt		chemokine (C-C motif) receptor 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	80	85		955	0.2	0	3		85	0,8600		0,0,4300	no	missense	CCR1	NM_001295.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	319/356	46244850	1,13005	2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244850G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.955C>T	3.37:g.46244850G>A	ENSP00000296140:p.Arg319Cys					CCR3_ENST00000357422.2_Intron	p.R319C	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1080	-			319					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.955C>T	CCDS2737.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.83	2.055942	0.36277	2.27E-4	0.0	ENSG00000163823	ENST00000296140	T	0.37584	1.19	5.31	0.176	0.15049	.	0.974131	0.08385	N	0.953839	T	0.21801	0.0525	N	0.04994	-0.135	0.09310	N	1	D	0.54207	0.965	P	0.48677	0.586	T	0.09862	-1.0655	10	0.51188	T	0.08	.	3.7884	0.08710	0.1929:0.1125:0.5783:0.1163	.	319	P32246	CCR1_HUMAN	C	319	ENSP00000296140:R319C	ENSP00000296140:R319C	R	-	1	0	CCR1	46219854	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.181000	0.09740	-0.185000	0.10550	0.561000	0.74099	CGT		0.592	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		53	203	0	0	0	1	0	53	203					A	46244850	G	A	46244850	3	1	79	1	0	0	0	0	1	0	0	0	2948	1087	38	1	116	1	CCR1	3	46244850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181472	46244850	151777580	4012	14329											
CCR1	1230	broad.mit.edu	37	chr3	46245532	46245532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatccttcaacttgtagtcGatccagaagggaagcgtgaa	10	9	2	2	rs570245777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22539	0.0		0.0	False		,,,				2504	0.001					ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(271-273)atC>atT		chemokine (C-C motif) receptor 1							149	142	144					3																	46245532		2203	4300	6503	SO:0001819	synonymous_variant	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245532G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.273C>T	3.37:g.46245532G>A						CCR3_ENST00000357422.2_Intron	p.I91I	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	398	-			91					Q86VA9	Silent	SNP	ENST00000296140.3	37	c.273C>T	CCDS2737.1																																																																																				0.453	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		86	324	0	0	0	1	0	86	324					A	46245532	G	A	46245532	2	1	79	1	0	0	0	0	0	0	0	1	2948	1048	37	1		1	CCR1	3	46245532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	46245532	151776898	4013	14330											
CCR2	729230	broad.mit.edu	37	chr3	46399102	46399102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttttgattatgattaCggtgctccctgtcataaatt	6	8	1	2	rs201767110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000400888.2	+	1	123	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000292301.4_Silent_p.Y28Y			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	28					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20632	0.001		0.0	False		,,,				2504	0.0					ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(82-84)taC>taT		chemokine (C-C motif) receptor 2							190	170	176					3																	46399102		1568	3582	5150	SO:0001819	synonymous_variant	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399102C>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.84C>T	3.37:g.46399102C>T						CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000400888.2_Silent_p.Y28Y	p.Y28Y	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	569	+			28					A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	c.84C>T	CCDS43078.1																																																																																				0.478	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		109	525	0	0	0	1	0	109	525					T	46399102	C	T	46399102	2	4	79	1	0	0	0	0	0	0	0	1	2950	547	19	1		1	CCR2	3	46399102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153570	46399102	151623328	4014	14331											
CCRL2	9034	broad.mit.edu	37	chr3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccttctgggctcatgCtgggggcgatcccatgtgta	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D|CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	97					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433																																						ENST00000399036.3																			0											c.(289-291)gCt>gAt									86	85	85					3																	46449860		2006	4156	6162	SO:0001583	missense	0							g.chr3:46449860C>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.290C>A	3.37:g.46449860C>A	ENSP00000381994:p.Ala97Asp					ACKR5_ENST00000400882.2_Missense_Mutation_p.A97D|ACKR5_ENST00000357392.4_Missense_Mutation_p.A109D|ACKR5_ENST00000400880.3_Missense_Mutation_p.A97D	p.A97D	NM_003965.4	NP_003956.2					2	642	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.290C>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090831	0.36855	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.25	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	3.140400	0.01209	N	0.007788	T	0.29321	0.0730	N	0.17474	0.49	0.09310	N	1	B;B	0.20671	0.038;0.047	B;B	0.19391	0.015;0.025	T	0.30851	-0.9964	10	0.72032	D	0.01	.	8.8988	0.35481	0.1536:0.5197:0.3267:0.0	.	109;97	O00421-2;O00421	.;CCRL2_HUMAN	D	97;109;97;97;97	ENSP00000381994:A97D;ENSP00000349967:A109D;ENSP00000383677:A97D;ENSP00000414957:A97D;ENSP00000383678:A97D	ENSP00000349967:A109D	A	+	2	0	CCRL2	46424864	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	1.614000	0.36911	0.556000	0.29098	0.491000	0.48974	GCT		0.433	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			64	332	1	0	2.03366e-24	1	2.32484e-24	64	332					A	46449860	C	A	46449860	3	1	79	1	0	0	0	0	1	0	0	0	2959	797	28	3	332	3	CCRL2	3	46449860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50758	46449860	151572570	4015	14332											
CCRL2	9034	broad.mit.edu	37	chr3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagggagcagaggtataGccttttcaagcttgtttttg	12	6	2	1	rs376131944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	235					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388																																						ENST00000399036.3																			0											c.(703-705)aGc>aAc									211	210	210					3																	46450274		1917	4114	6031	SO:0001583	missense	0							g.chr3:46450274G>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.704G>A	3.37:g.46450274G>A	ENSP00000381994:p.Ser235Asn					ACKR5_ENST00000400882.2_Missense_Mutation_p.S235N|ACKR5_ENST00000357392.4_Missense_Mutation_p.S247N|ACKR5_ENST00000400880.3_Missense_Mutation_p.S235N	p.S235N	NM_003965.4	NP_003956.2					2	1056	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.704G>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382199	0.24944	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.49	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	2.259790	0.02401	N	0.080709	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.19946	0.016;0.027	T	0.39522	-0.9610	10	0.72032	D	0.01	.	14.0252	0.64582	0.3336:0.0:0.6664:0.0	.	247;235	O00421-2;O00421	.;CCRL2_HUMAN	N	235;247;235;235	ENSP00000381994:S235N;ENSP00000349967:S247N;ENSP00000383677:S235N;ENSP00000383678:S235N	ENSP00000349967:S247N	S	+	2	0	CCRL2	46425278	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.703000	0.05063	-0.747000	0.04759	-0.350000	0.07774	AGC		0.388	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			250	1138	0	0	0	1	0	250	1138					A	46450274	G	A	46450274	3	1	79	1	0	0	0	0	1	0	0	0	2959	971	34	2	746	2	CCRL2	3	46450274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	414	46450274	151572156	4016	14333											
LTF	4057	broad.mit.edu	37	chr3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccacttactgtagttctCtgccaggacaggcaccaaac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000231751.4	-	10	1589	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_ENST00000426532.2_Missense_Mutation_p.E388K|LTF_ENST00000417439.1_Missense_Mutation_p.E430K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	432	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CTGTAGTTCTCTGCCAGGACA	0.483																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1294-1296)Gag>Aag		lactotransferrin	Pefloxacin(DB00487)						220	187	198					3																	46488808		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46488808C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1294G>A	3.37:g.46488808C>T	ENSP00000231751:p.Glu432Lys					LTF_ENST00000426532.2_Missense_Mutation_p.E388K|LTF_ENST00000417439.1_Missense_Mutation_p.E430K	p.E432K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	10	1589	-			432			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1294G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963350	0.92791	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.76	4.76	0.60689	.	0.138561	0.64402	D	0.000004	T	0.79604	0.4474	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.86696	0.1926	10	0.87932	D	0	-21.1836	15.6781	0.77344	0.0:1.0:0.0:0.0	.	430;419;432	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	432;388;430;419	ENSP00000231751:E432K;ENSP00000405719:E388K;ENSP00000405546:E430K;ENSP00000397427:E419K	ENSP00000231751:E432K	E	-	1	0	LTF	46463812	1.000000	0.71417	0.955000	0.39395	0.988000	0.76386	6.634000	0.74290	2.646000	0.89796	0.563000	0.77884	GAG		0.483	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		97	499	0	0	0	1	0	97	499					T	46488808	C	T	46488808	3	4	79	1	0	0	0	0	1	0	0	0	9117	922	32	2	870	2	LTF	3	46488808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38534	46488808	151533622	4017	14334											
LRRC2	79442	broad.mit.edu	37	chr3	46580536	46580536	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgctaagttgacataccGatttctgctggaagatgtga	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	163										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGACATACCGATTTCTGCTG	0.453																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.e4+1		leucine rich repeat containing 2							129	114	119					3																	46580536		2203	4300	6503	SO:0001630	splice_region_variant	79442							g.chr3:46580536G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.490+1C>T	3.37:g.46580536G>A						LRRC2_ENST00000296144.3_Splice_Site_p.I163_splice	p.I163_splice	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	4	881	-		Ovarian(412;0.0563)	163					B2RDQ7|Q96LT5	Splice_Site	SNP	ENST00000395905.3	37	c.490_splice	CCDS2741.1																																																																																				0.453	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2		Silent	63	310	0	0	0	1	0	63	310					A	46580536	G	A	46580536	5	1	79	1	0	0	0	0	0	0	1	0	9014	1072	37	1	650	1	LRRC2	3	46580536	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91728	46580536	151441894	4018	14335											
ALS2CL	259173	broad.mit.edu	37	chr3	46717749	46717749	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccacctgtaggcagcccaGagttcctgggcatgctgctt	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000383742.3_Silent_p.L71L|ALS2CL_ENST00000415953.1_Silent_p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	724					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(2170-2172)ctC>ctA		ALS2 C-terminal like							74	65	68					3																	46717749		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46717749G>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2172C>A	3.37:g.46717749G>T						ALS2CL_ENST00000415953.1_Silent_p.L724L|ALS2CL_ENST00000383742.3_Silent_p.L71L	p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	19	2255	-			724					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.2172C>A	CCDS2743.1																																																																																				0.607	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		71	329	1	0	4.79706e-38	1	5.77216e-38	71	329					T	46717749	G	T	46717749	2	4	79	1	0	0	0	0	0	0	0	1	551	929	33	3		3	ALS2CL	3	46717749	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137213	46717749	151304681	4019	14336											
PRSS45	29122	broad.mit.edu	37	chr3	46783961	46783961	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggtgtatttggtgatgCgggtgtacacacctggattc	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46783961C>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.R189H			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTTGGTGATGCGGGTGTACAC	0.552																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(565-567)cGc>cAc		protease, serine, 45							208	259	242					3																	46783961		2088	4222	6310	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46783961C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+6153G>A	3.37:g.46783961C>T						PRSS50_ENST00000460241.1_Intron	p.R189H	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			4	565	-			221			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.566G>A	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567868	0.45798	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94687	-3.49	5.65	4.76	0.60689	.	0.000000	0.56097	D	0.000025	D	0.96396	0.8824	.	.	.	0.09310	N	0.999991	D	0.89917	1.0	D	0.69307	0.963	D	0.91431	0.5166	9	0.56958	D	0.05	.	11.7851	0.52037	0.175:0.825:0.0:0.0	.	189	Q7RTY3-2	.	H	221;189	ENSP00000401932:R189H	ENSP00000330940:R221H	R	-	2	0	PRSS45	46758965	0.763000	0.28462	0.032000	0.17829	0.266000	0.26442	1.946000	0.40283	1.602000	0.50124	0.655000	0.94253	CGC		0.552	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			167	652	0	0	0	1	0	167	652					T	46783961	C	T	46783961	1	4	79	0	1	0	0	0	0	0	0	0	12676	768	27	1		1	PRSS45	3	46783961	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66212	46783961	151238469	4020	14337											
PRSS45	29122	broad.mit.edu	37	chr3	46784535	46784535	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgataaacacctcagcctcCtgcagctctggggtcagcat	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46784535C>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.Q107H			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCTCAGCCTCCTGCAGCTCTG	0.577																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(319-321)caG>caT		protease, serine, 45							59	66	64					3																	46784535		2133	4259	6392	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784535C>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5579G>T	3.37:g.46784535C>A						PRSS50_ENST00000460241.1_Intron	p.Q107H	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			3	320	-			139			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.321G>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	52	19.245299	0.99917	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94092	-3.35	4.83	3.96	0.45880	.	0.384961	0.22537	N	0.058772	D	0.94827	0.8329	.	.	.	0.27577	N	0.949706	D	0.63046	0.992	P	0.60473	0.875	D	0.89351	0.3661	9	0.54805	T	0.06	.	9.2992	0.37835	0.0:0.9023:0.0:0.0977	.	107	Q7RTY3-2	.	H	139;107	ENSP00000401932:Q107H	ENSP00000330940:Q139H	Q	-	3	2	PRSS45	46759539	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.290000	0.33319	1.430000	0.47334	0.650000	0.86243	CAG		0.577	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			42	212	1	0	2.9001e-28	1	3.37151e-28	42	212					A	46784535	C	A	46784535	1	1	79	0	1	0	0	0	0	0	0	0	12676	680	24	3		3	PRSS45	3	46784535	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	46784535	151237895	4021	14338											
PRSS45	29122	broad.mit.edu	37	chr3	46785608	46785608	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcttggaggtgccaaGcaccactgagtactctttgg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46785608G>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.L46I			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GAGGTGCCAAGCACCACTGAG	0.587																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(136-138)Ctt>Att		protease, serine, 45							27	32	30					3																	46785608		1980	4173	6153	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46785608G>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+4506C>A	3.37:g.46785608G>T						PRSS50_ENST00000460241.1_Intron	p.L46I	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			2	135	-			46			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.136C>A	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532745	0.45073	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.90261	-2.64	5.16	0.901	0.19284	.	0.527049	0.15839	N	0.242108	D	0.84692	0.5528	L	0.60455	1.87	0.33594	D	0.601433	B	0.25563	0.129	B	0.20955	0.032	T	0.80402	-0.1397	10	0.72032	D	0.01	.	2.2583	0.04060	0.1006:0.1597:0.374:0.3656	.	46	Q7RTY3-2	.	I	46	ENSP00000401932:L46I	ENSP00000330940:L46I	L	-	1	0	PRSS45	46760612	0.826000	0.29277	0.075000	0.20258	0.895000	0.52256	1.469000	0.35343	0.313000	0.23062	0.563000	0.77884	CTT		0.587	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			6	39	1	0	0.217242	1	0.217458	6	39					T	46785608	G	T	46785608	1	4	79	0	1	0	0	0	0	0	0	0	12676	971	34	3		3	PRSS45	3	46785608	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1073	46785608	151236822	4022	14339											
MYL3	4634	broad.mit.edu	37	chr3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggctcagggggaggtgCgggagctggagctgccttgg	20	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	24					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGGGGAGGTGCGGGAGCTGGA	0.592																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(70-72)Gca>Aca		myosin, light chain 3, alkali; ventricular, skeletal, slow							86	91	89					3																	46904811		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46904811C>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.70G>A	3.37:g.46904811C>T	ENSP00000379210:p.Ala24Thr					MYL3_ENST00000292327.4_Missense_Mutation_p.A24T	p.A24T			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	1	121	-			24					B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.70G>A	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773711	0.16051	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84298	-1.83;-1.83	2.95	2.07	0.26955	.	0.492773	0.19873	N	0.104154	T	0.80773	0.4687	M	0.78801	2.425	0.09310	N	1	B	0.19583	0.037	B	0.04013	0.001	T	0.65438	-0.6168	10	0.23891	T	0.37	-12.4256	5.9945	0.19487	0.0:0.8539:0.0:0.1461	.	24	P08590	MYL3_HUMAN	T	24	ENSP00000379210:A24T;ENSP00000292327:A24T	ENSP00000292327:A24T	A	-	1	0	MYL3	46879815	0.899000	0.30636	0.059000	0.19551	0.180000	0.23129	1.459000	0.35234	0.836000	0.34901	-0.258000	0.10820	GCA		0.592	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		21	585	0	0	0	1	0	21	585					T	46904811	C	T	46904811	3	4	79	1	0	0	0	0	1	0	0	0	10089	768	27	1	541	1	MYL3	3	46904811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119203	46904811	151117619	4023	14340											
CCDC12	151903	broad.mit.edu	37	chr3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgcaaccggtttgGcctggggcaccctcctcttc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000546280.1	-	3	277	c.230C>T	c.(229-231)gCc>gTc	p.A77V	CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Missense_Mutation_p.A90V|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	77										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		AACCGGTTTGGCCTGGGGCAC	0.562																																						ENST00000425441.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(1)	3						c.(268-270)gCc>gTc		coiled-coil domain containing 12							153	104	121					3																	46966960		2203	4300	6503	SO:0001583	missense	151903							g.chr3:46966960G>A	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.230C>T	3.37:g.46966960G>A	ENSP00000441327:p.Ala77Val					CCDC12_ENST00000546280.1_Missense_Mutation_p.A77V|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	p.A90V	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	5	494	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	77					Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37	c.269C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077400	0.76528	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31752	0.955	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.87578	0.998;0.46	T	0.62158	-0.6913	9	0.32370	T	0.25	-2.9651	17.1908	0.86879	0.0:0.0:1.0:0.0	.	77;77	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	V	90;90;77;90	.	ENSP00000292314:A90V	A	-	2	0	CCDC12	46941964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.404000	0.73268	2.724000	0.93272	0.561000	0.74099	GCC		0.562	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716		18	97	0	0	0	1	0	18	97					A	46966960	G	A	46966960	3	1	79	1	0	0	0	0	1	0	0	0	2762	1203	42	2	290	2	CCDC12	3	46966960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62149	46966960	151055470	4024	14341											
NBEAL2	23218	broad.mit.edu	37	chr3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggctgacctggagcaaGccctcctgctgctcaagctc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(232-234)Gcc>Acc		neurobeachin-like 2							48	53	51					3																	47030423		2158	4259	6417	SO:0001583	missense	23218						binding	g.chr3:47030423G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.232G>A	3.37:g.47030423G>A	ENSP00000415034:p.Ala78Thr					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	p.A78T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	3	411	+		Acute lymphoblastic leukemia(5;0.0534)	78					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.232G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918185	0.33815	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.60040	0.22;0.24	4.07	2.25	0.28309	.	.	.	.	.	T	0.50257	0.1605	M	0.63843	1.955	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.18561	0.022;0.002	T	0.45673	-0.9245	9	0.54805	T	0.06	.	6.2584	0.20887	0.3197:0.0:0.6803:0.0	.	71;78	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	T	78;78;71	ENSP00000292309:A78T;ENSP00000415034:A78T	ENSP00000292309:A78T	A	+	1	0	NBEAL2	47005427	0.380000	0.25131	0.704000	0.30370	0.708000	0.40852	1.522000	0.35921	0.370000	0.24538	0.561000	0.74099	GCC		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		32	186	0	0	0	1	0	32	186					A	47030423	G	A	47030423	3	1	79	1	0	0	0	0	1	0	0	0	10230	971	34	2	242	2	NBEAL2	3	47030423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63463	47030423	150992007	4025	14342											
NBEAL2	23218	broad.mit.edu	37	chr3	47040450	47040450	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccctgcatccccaggCggtgggtgcgctggacctgc	15	14	0	1	rs568496511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1129					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	0.0	0.0	5008	,	,		16414	0.001		0.0	False		,,,				2504	0.0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e24-1		neurobeachin-like 2							35	42	39					3																	47040450		2158	4244	6402	SO:0001630	splice_region_variant	23218						binding	g.chr3:47040450C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3385-1C>T	3.37:g.47040450C>T			OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.A1129_splice	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	24	3565	+		Acute lymphoblastic leukemia(5;0.0534)	1129					O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.3384_splice	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.267371	0.01433	.	.	ENSG00000160796	ENST00000450053	T	0.20332	2.08	5.29	2.92	0.33932	.	.	.	.	.	T	0.04272	0.0118	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	9	0.05959	T	0.93	.	7.3518	0.26695	0.0:0.2562:0.0:0.7438	.	1129	Q6ZNJ1	NBEL2_HUMAN	V	1129	ENSP00000415034:A1129V	ENSP00000415034:A1129V	A	+	2	0	NBEAL2	47015454	0.954000	0.32549	0.874000	0.34290	0.113000	0.19764	1.301000	0.33447	0.425000	0.26087	-0.361000	0.07541	GCG		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Missense_Mutation	14	48	0	0	0	1	0	14	48					T	47040450	C	T	47040450	5	4	79	1	0	0	0	0	0	0	1	0	10230	782	27	1	3480	1	NBEAL2	3	47040450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10027	47040450	150981980	4026	14343											
NBEAL2	23218	broad.mit.edu	37	chr3	47041693	47041693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctagtgtaggatcaggCaacactgctggtggtggcgg	17	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000292309.5_Silent_p.G1184G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1368					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4102-4104)ggC>ggT		neurobeachin-like 2							98	104	102					3																	47041693		2104	4219	6323	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041693C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4104C>T	3.37:g.47041693C>T						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	p.G1368G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4283	+		Acute lymphoblastic leukemia(5;0.0534)	1368					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4104C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	2.402	-0.337409	0.05278	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.16	0.20824	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3069	0.07003	0.1209:0.4588:0.262:0.1583	.	.	.	.	V	656	.	.	A	+	2	0	NBEAL2	47016697	0.000000	0.05858	0.058000	0.19502	0.490000	0.33462	-0.017000	0.12590	0.251000	0.21505	0.561000	0.74099	GCA		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		102	480	0	0	0	1	0	102	480					T	47041693	C	T	47041693	2	4	79	1	0	0	0	0	0	0	0	1	10230	697	25	2		2	NBEAL2	3	47041693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1243	47041693	150980737	4027	14344											
NBEAL2	23218	broad.mit.edu	37	chr3	47042768	47042768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttccccactcacccgccaGcctcctggagatgatgctgg	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000292309.5_Splice_Site|NBEAL2_ENST00000383740.2_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2						blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e29-1		neurobeachin-like 2							63	77	72					3																	47042768		2098	4226	6324	SO:0001630	splice_region_variant	23218						binding	g.chr3:47042768G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4485-1G>T	3.37:g.47042768G>T						NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_Splice_Site		NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	29	4663	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37		CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160308	0.78226	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000416683	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL2	47017772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.542000	0.98086	2.667000	0.90743	0.563000	0.77884	.		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Intron	94	400	1	0	7.0627e-44	1	8.63406e-44	94	400					T	47042768	G	T	47042768	5	4	79	1	0	0	0	0	0	0	1	0	10230	985	34	3	4598	3	NBEAL2	3	47042768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1075	47042768	150979662	4028	14345											
NBEAL2	23218	broad.mit.edu	37	chr3	47047546	47047546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcttctattactgcacCtatgagggtgggcagtgcgc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000292309.5_Silent_p.T2120T|NBEAL2_ENST00000383740.2_Silent_p.T583T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2304	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6910-6912)acC>acA		neurobeachin-like 2							56	67	63					3																	47047546		2112	4230	6342	SO:0001819	synonymous_variant	23218						binding	g.chr3:47047546C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6912C>A	3.37:g.47047546C>A						NBEAL2_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	p.T2304T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	43	7091	+		Acute lymphoblastic leukemia(5;0.0534)	2304			BEACH.		O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.6912C>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.78|4.78	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	.|.	3.3935|3.3935	0.07298|0.07298	0.3228:0.4439:0.0:0.2333|0.3228:0.4439:0.0:0.2333	.|.	.|.	.|.	.|.	I|H	673|1592	.|.	.|.	L|P	+|+	1|2	2|0	NBEAL2|NBEAL2	47022550|47022550	0.003000|0.003000	0.15002|0.15002	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	-1.339000|-1.339000	0.02652|0.02652	0.049000|0.049000	0.15920|0.15920	0.561000|0.561000	0.74099|0.74099	CTA|CCT		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		79	333	1	0	4.00405e-42	1	4.87196e-42	79	333					A	47047546	C	A	47047546	2	1	79	1	0	0	0	0	0	0	0	1	10230	668	24	3		3	NBEAL2	3	47047546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	47047546	150974884	4029	14346											
NBEAL2	23218	broad.mit.edu	37	chr3	47049628	47049628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatggggctgcagtgagCtgtgtggccatcagcactga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000292309.5_Silent_p.S2373S|NBEAL2_ENST00000383740.2_Silent_p.S806S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7669-7671)agC>agT		neurobeachin-like 2							93	93	93					3																	47049628		2174	4279	6453	SO:0001819	synonymous_variant	23218						binding	g.chr3:47049628C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7671C>T	3.37:g.47049628C>T						NBEAL2_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	p.S2557S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	50	7850	+		Acute lymphoblastic leukemia(5;0.0534)	2557					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.7671C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928973	0.18131	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.16	0.958	0.19619	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	3.9483	0.09358	0.0:0.4167:0.1761:0.4072	.	.	.	.	V	1845	.	.	A	+	2	0	NBEAL2	47024632	0.003000	0.15002	1.000000	0.80357	0.990000	0.78478	-1.291000	0.02775	0.656000	0.30886	0.561000	0.74099	GCT		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		29	167	0	0	0	1	0	29	167					T	47049628	C	T	47049628	2	4	79	1	0	0	0	0	0	0	0	1	10230	796	28	2		2	NBEAL2	3	47049628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	47049628	150972802	4030	14347											
SETD2	29072	broad.mit.edu	37	chr3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatccatttatatttaattCtatgggacaaaaacttctta	4	6	2	1	rs374976472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	670					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATATTTAATTCTATGGGACAA	0.323			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2008-2010)Gaa>Aaa		SET domain containing 2		C	LYS/GLU	0,4406		0,0,2203	58	62	60		2008	5.4	1	3		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	SETD2	NM_014159.6	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	670/2565	47164118	1,13003	2203	4299	6502	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164118C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2008G>A	3.37:g.47164118C>T	ENSP00000386759:p.Glu670Lys						p.E670K	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2050	-		Acute lymphoblastic leukemia(5;0.0169)	670					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2008G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	0.0	1.16E-4	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.29	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000025	T	0.80706	0.4674	N	0.24115	0.695	0.37608	D	0.92084	P;P	0.43750	0.816;0.603	B;B	0.36766	0.232;0.232	D	0.85269	0.1055	10	0.87932	D	0	.	12.7337	0.57212	0.0:0.9255:0.0:0.0744	.	670;670	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	670;670;670;626	ENSP00000386759:E670K;ENSP00000416401:E626K	ENSP00000386759:E670K	E	-	1	0	SETD2	47139122	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.635000	0.54309	2.828000	0.97474	0.655000	0.94253	GAA		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		15	331	0	0	0	1	0	15	331					T	47164118	C	T	47164118	3	4	79	1	0	0	0	0	1	0	0	0	14181	922	32	2	5762	2	SETD2	3	47164118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114490	47164118	150858312	4031	14348											
SETD2	29072	broad.mit.edu	37	chr3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgtaaactaaaagaAtgagactgtttgatttcttc	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	586					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTAAAAGAATGAGACTGTT	0.323			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1756-1758)caT>caG		SET domain containing 2							46	52	50					3																	47164368		2195	4293	6488	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164368A>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1758T>G	3.37:g.47164368A>C	ENSP00000386759:p.His586Gln						p.H586Q	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1800	-		Acute lymphoblastic leukemia(5;0.0169)	586					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1758T>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925895	0.34002	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.5	5.43	5.43	0.79202	.	0.105088	0.42548	D	0.000693	T	0.81422	0.4819	N	0.19112	0.55	0.36693	D	0.879687	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	D	0.86994	0.2112	10	0.87932	D	0	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	586;586	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	586;586;586;542	ENSP00000386759:H586Q;ENSP00000416401:H542Q	ENSP00000386759:H586Q	H	-	3	2	SETD2	47139372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.058000	0.49939	2.277000	0.76020	0.528000	0.53228	CAT		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		64	274	0	0	0	1	0	64	274					C	47164368	A	C	47164368	3	2	79	1	0	0	0	0	1	0	0	0	14181	98	4	4	6012	4	SETD2	3	47164368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	250	47164368	150858062	4032	14349											
SETD2	29072	broad.mit.edu	37	chr3	47164397	47164397	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgatttcttcatttaattCtgtacaacagaaagaatttt	4	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164397C>A	ENST00000409792.3	-	3	1771	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	577					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCATTTAATTCTGTACAACAG	0.299			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1729-1731)Gaa>Taa		SET domain containing 2							54	61	59					3																	47164397		2201	4299	6500	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164397C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1729G>T	3.37:g.47164397C>A	ENSP00000386759:p.Glu577*						p.E577*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1771	-		Acute lymphoblastic leukemia(5;0.0169)	577					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.1729G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	36	5.644847	0.96704	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7171	0.57121	0.0:0.9254:0.0:0.0746	.	.	.	.	X	577;577;577;533	.	ENSP00000386759:E577X	E	-	1	0	SETD2	47139401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.261000	0.58841	2.823000	0.97156	0.650000	0.86243	GAA		0.299	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	417	1	0	2.32078e-09	1	2.442e-09	16	417					A	47164397	C	A	47164397	4	1	79	1	0	0	0	0	0	1	0	0	14181	922	32	3	6041	3	SETD2	3	47164397	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	47164397	150858033	4033	14350											
KIF9	64147	broad.mit.edu	37	chr3	47284645	47284645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacatccccatctttggaGgatgggaccagctgggtctt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47284645G>T	ENST00000265529.3	-	17	2285	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Silent_p.S535S|KIF9_ENST00000444589.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	535					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATCTTTGGAGGATGGGACCA	0.552																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1603-1605)tcC>tcA		kinesin family member 9							99	84	89					3																	47284645		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284645G>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1605C>A	3.37:g.47284645G>T						KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000265529.3_Silent_p.S535S|KIF9_ENST00000487440.1_5'UTR	p.S535S	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	1962	-		Acute lymphoblastic leukemia(5;0.164)	535					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.1605C>A	CCDS2752.1																																																																																				0.552	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			7	252	1	0	0.0293803	1	0.0294705	7	252					T	47284645	G	T	47284645	2	4	79	1	0	0	0	0	0	0	0	1	8340	987	35	3		3	KIF9	3	47284645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120248	47284645	150737785	4034	14351											
KIF9	64147	broad.mit.edu	37	chr3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtggtgactagcTtcatcctgctggcaaatctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000265529.3	-	11	1693	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTAGCTTCATCCTGCT	0.507																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1012-1014)aAg>aCg		kinesin family member 9							175	144	155					3																	47299019		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47299019T>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1013A>C	3.37:g.47299019T>G	ENSP00000265529:p.Lys338Thr					KIF9_ENST00000444589.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000265529.3_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR	p.K338T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1370	-		Acute lymphoblastic leukemia(5;0.164)	338					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1013A>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248045	0.80024	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.47	5.47	0.80525	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.69248	2.105	0.52501	D	0.999959	P;D	0.55385	0.856;0.971	P;P	0.50270	0.631;0.636	T	0.82218	-0.0566	10	0.46703	T	0.11	.	14.5097	0.67776	0.0:0.0:0.0:1.0	.	338;338	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	338;338;338;338;245	ENSP00000333942:K338T;ENSP00000265529:K338T;ENSP00000414987:K338T;ENSP00000391100:K338T;ENSP00000292334:K245T	ENSP00000265529:K338T	K	-	2	0	KIF9	47274023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.476000	0.60216	2.296000	0.77279	0.533000	0.62120	AAG		0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			70	360	0	0	0	1	0	70	360					G	47299019	T	G	47299019	3	3	79	1	0	0	0	0	1	0	0	0	8340	1609	56	4	1407	4	KIF9	3	47299019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14374	47299019	150723411	4035	14352											
KLHL18	23276	broad.mit.edu	37	chr3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagacaatgatgtgtgCtgtgctgtacgacgctgcca	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	153	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGATGTGTGCTGTGCTGTAC	0.493																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(457-459)gCt>gTt		kelch-like family member 18							124	120	121					3																	47371497		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47371497C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.458C>T	3.37:g.47371497C>T	ENSP00000232766:p.Ala153Val					KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	p.A153V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	4	478	+		Acute lymphoblastic leukemia(5;0.164)	153			BACK.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.458C>T	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333086	0.60853	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.69040	-0.37;-0.37	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.059222	0.64402	D	0.000002	T	0.46054	0.1373	N	0.16066	0.365	0.58432	D	0.999997	P;B;B	0.40534	0.72;0.012;0.137	B;B;B	0.35182	0.197;0.02;0.058	T	0.47598	-0.9105	10	0.09590	T	0.72	.	16.8983	0.86106	0.0:1.0:0.0:0.0	.	4;153;88	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	V	153;41	ENSP00000232766:A153V;ENSP00000405585:A41V	ENSP00000232766:A153V	A	+	2	0	KLHL18	47346501	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	7.416000	0.80143	2.579000	0.87056	0.467000	0.42956	GCT		0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		32	507	0	0	0	1	0	32	507					T	47371497	C	T	47371497	3	4	79	1	0	0	0	0	1	0	0	0	8403	797	28	2	472	2	KLHL18	3	47371497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72478	47371497	150650933	4036	14353											
PTPN23	25930	broad.mit.edu	37	chr3	47437686	47437686	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctacaatgaagaactgaaGaagctggagttgctcagaca	11	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47437686G>T	ENST00000265562.4	+	2	215	c.138G>T	c.(136-138)aaG>aaT	p.K46N	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	46	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGAACTGAAGAAGCTGGAGT	0.453																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(136-138)aaG>aaT		protein tyrosine phosphatase, non-receptor type 23							134	137	136					3																	47437686		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47437686G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.138G>T	3.37:g.47437686G>T	ENSP00000265562:p.Lys46Asn					PTPN23_ENST00000431726.1_5'UTR	p.K46N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	215	+			46			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.138G>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320903	0.81469	.	.	ENSG00000076201	ENST00000265562	T	0.17691	2.26	5.77	3.99	0.46301	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.43152	1.355	0.80722	D	1	D	0.53151	0.958	P	0.54210	0.745	T	0.00657	-1.1623	10	0.49607	T	0.09	-25.3321	11.6316	0.51178	0.1447:0.0:0.8553:0.0	.	46	Q9H3S7	PTN23_HUMAN	N	46	ENSP00000265562:K46N	ENSP00000265562:K46N	K	+	3	2	PTPN23	47412690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.234000	0.72326	0.798000	0.33994	0.650000	0.86243	AAG		0.453	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		8	440	1	0	0.000274275	1	0.000278163	8	440					T	47437686	G	T	47437686	3	4	79	1	0	0	0	0	1	0	0	0	12838	933	33	3	144	3	PTPN23	3	47437686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66189	47437686	150584744	4037	14354											
PTPN23	25930	broad.mit.edu	37	chr3	47449834	47449834	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgttgctccccacaGccagttcatggattcaatgc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23						cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.e15-1		protein tyrosine phosphatase, non-receptor type 23							79	74	76					3																	47449834		2203	4300	6503	SO:0001630	splice_region_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47449834G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1185-1G>T	3.37:g.47449834G>T						PTPN23_ENST00000431726.1_Splice_Site		NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	15	1261	+								A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Splice_Site	SNP	ENST00000265562.4	37		CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477482	0.63849	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN23	47424838	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	9.305000	0.96197	2.195000	0.70347	0.557000	0.71058	.		0.582	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	Intron	57	311	1	0	1.19403e-26	1	1.3775e-26	57	311					T	47449834	G	T	47449834	5	4	79	1	0	0	0	0	0	0	1	0	12838	985	34	3	1242	3	PTPN23	3	47449834	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12148	47449834	150572596	4038	14355											
PTPN23	25930	broad.mit.edu	37	chr3	47450720	47450720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatgcgggaccagcgCgtgtccctggagcagcagct	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	570					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACCAGCGCGTGTCCCTGG	0.587																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1708-1710)cgC>cgT		protein tyrosine phosphatase, non-receptor type 23							61	60	61					3																	47450720		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450720C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1710C>T	3.37:g.47450720C>T						PTPN23_ENST00000431726.1_Silent_p.R444R	p.R570R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	1787	+			570					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1710C>T	CCDS2754.1																																																																																				0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		11	348	0	0	0	1	0	11	348					T	47450720	C	T	47450720	2	4	79	1	0	0	0	0	0	0	0	1	12838	755	27	1		1	PTPN23	3	47450720	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	886	47450720	150571710	4039	14356											
PTPN23	25930	broad.mit.edu	37	chr3	47451949	47451949	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accaccacagtagatagcatCcaggcgcccatccccagcca	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	887	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2659-2661)atC>atA		protein tyrosine phosphatase, non-receptor type 23							22	25	24					3																	47451949		2202	4297	6499	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451949C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2661C>A	3.37:g.47451949C>A						PTPN23_ENST00000431726.1_Silent_p.I761I	p.I887I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2738	+			887			His.|Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.2661C>A	CCDS2754.1																																																																																				0.697	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		20	119	1	0	9.7654e-05	1	9.93505e-05	20	119					A	47451949	C	A	47451949	2	1	79	1	0	0	0	0	0	0	0	1	12838	845	30	3		3	PTPN23	3	47451949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	47451949	150570481	4040	14357											
PTPN23	25930	broad.mit.edu	37	chr3	47452754	47452754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtcgtcggccgcagGccctgcggctgattgagcgg	18	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47452754G>T	ENST00000265562.4	+	20	3543	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1156					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCGGCCGCAGGCCCTGCGGCT	0.687																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3466-3468)Gcc>Tcc		protein tyrosine phosphatase, non-receptor type 23							17	20	19					3																	47452754		2200	4295	6495	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452754G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3466G>T	3.37:g.47452754G>T	ENSP00000265562:p.Ala1156Ser					PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	p.A1156S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3543	+			1156					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3466G>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958074	0.53400	.	.	ENSG00000076201	ENST00000265562	T	0.02682	4.2	4.78	4.78	0.61160	.	0.067857	0.64402	D	0.000018	T	0.03739	0.0106	N	0.24115	0.695	0.45607	D	0.998543	P;P	0.46987	0.888;0.888	P;P	0.44561	0.453;0.453	T	0.60566	-0.7238	10	0.40728	T	0.16	-18.1626	16.7279	0.85428	0.0:0.0:1.0:0.0	.	1030;1156	B4DST5;Q9H3S7	.;PTN23_HUMAN	S	1156	ENSP00000265562:A1156S	ENSP00000265562:A1156S	A	+	1	0	PTPN23	47427758	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.895000	0.75660	2.468000	0.83385	0.563000	0.77884	GCC		0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		7	169	1	0	0.00198382	1	0.00200138	7	169					T	47452754	G	T	47452754	3	4	79	1	0	0	0	0	1	0	0	0	12838	1203	42	3	3544	3	PTPN23	3	47452754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805	47452754	150569676	4041	14358											
PTPN23	25930	broad.mit.edu	37	chr3	47454450	47454450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcctaaggaggagccGccagtgcctgaagcccccag	12	17	0	1	rs371856828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1562	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4684-4686)ccG>ccA		protein tyrosine phosphatase, non-receptor type 23		G		0,4388		0,0,2194	10	13	12		4686	-3.4	0	3		12	1,8573		0,1,4286	no	coding-synonymous	PTPN23	NM_015466.2		0,1,6480	AA,AG,GG		0.0117,0.0,0.0077		1562/1637	47454450	1,12961	2194	4287	6481	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454450G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4686G>A	3.37:g.47454450G>A						PTPN23_ENST00000431726.1_Silent_p.P1436P	p.P1562P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	4763	+			1562			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.4686G>A	CCDS2754.1																																																																																				0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		19	111	0	0	0	1	0	19	111					A	47454450	G	A	47454450	2	1	79	1	0	0	0	0	0	0	0	1	12838	1074	38	1		1	PTPN23	3	47454450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1696	47454450	150567980	4042	14359											
PTPN23	25930	broad.mit.edu	37	chr3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgctggcctccttgaccCcagaggccttctccctggac	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1585					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4753-4755)Cca>Aca		protein tyrosine phosphatase, non-receptor type 23							19	22	21					3																	47454517		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454517C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4753C>A	3.37:g.47454517C>A	ENSP00000265562:p.Pro1585Thr					PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	p.P1585T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	4830	+			1585					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4753C>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802228	0.50315	.	.	ENSG00000076201	ENST00000265562	T	0.08008	3.14	4.72	4.72	0.59763	.	0.080102	0.49916	D	0.000132	T	0.12944	0.0314	L	0.29908	0.895	0.44627	D	0.997603	D	0.60160	0.987	P	0.54544	0.755	T	0.01464	-1.1348	10	0.72032	D	0.01	-10.3634	12.3772	0.55287	0.0:0.8296:0.1704:0.0	.	1585	Q9H3S7	PTN23_HUMAN	T	1585	ENSP00000265562:P1585T	ENSP00000265562:P1585T	P	+	1	0	PTPN23	47429521	0.998000	0.40836	0.695000	0.30226	0.993000	0.82548	4.195000	0.58400	2.146000	0.66826	0.563000	0.77884	CCA		0.662	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		35	149	1	0	1.36161e-19	1	1.52027e-19	35	149					A	47454517	C	A	47454517	3	1	79	1	0	0	0	0	1	0	0	0	12838	623	22	3	4851	3	PTPN23	3	47454517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	47454517	150567913	4043	14360											
SCAP	22937	broad.mit.edu	37	chr3	47459949	47459949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgcgcgggcatagcacGcggtagaggcagagcagcag	17	9	0	2	rs368756779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	731	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCATAGCACGCGGTAGAGGC	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		10056	0.0		0.0	False		,,,				2504	0.001				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2191-2193)cgC>cgT		SREBF chaperone		G		2,4336		0,2,2167	10	14	12		2193	-6.2	0.6	3		12	0,8514		0,0,4257	no	coding-synonymous	SCAP	NM_012235.2		0,2,6424	AA,AG,GG		0.0,0.0461,0.0156		731/1280	47459949	2,12850	2169	4257	6426	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47459949G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2193C>T	3.37:g.47459949G>A						SCAP_ENST00000545718.1_Silent_p.R339R|SCAP_ENST00000441517.2_Silent_p.R476R	p.R731R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	15	2605	-			731			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2193C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299887	0.05532	4.61E-4	0.0	ENSG00000114650	ENST00000383739	.	.	.	4.22	-6.18	0.02085	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54715	-0.8252	6	0.87932	D	0	-20.461	3.3723	0.07225	0.4167:0.336:0.1566:0.0906	.	.	.	.	C	256	.	ENSP00000373245:R256C	R	-	1	0	SCAP	47434953	0.000000	0.05858	0.607000	0.28956	0.034000	0.12701	-2.562000	0.00920	-1.126000	0.02929	-0.440000	0.05779	CGT		0.716	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		13	52	0	0	0	1	0	13	52					A	47459949	G	A	47459949	2	1	79	1	0	0	0	0	0	0	0	1	13927	1074	38	1		1	SCAP	3	47459949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5432	47459949	150562481	4044	14361											
SCAP	22937	broad.mit.edu	37	chr3	47460252	47460252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggccaggcactgcggccGtcctgagggtgccggccctc	18	15	0	1	rs370739539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.001		0.0	False		,,,				2504	0.0				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2020-2022)gaC>gaT		SREBF chaperone		G		1,4395		0,1,2197	16	18	17		2022	-2.7	0.4	3		17	0,8598		0,0,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		674/1280	47460252	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460252G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2022C>T	3.37:g.47460252G>A						SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000441517.2_Silent_p.D419D	p.D674D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	14	2434	-			674					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2022C>T	CCDS2755.2																																																																																				0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		12	88	0	0	0	1	0	12	88					A	47460252	G	A	47460252	2	1	79	1	0	0	0	0	0	0	0	1	13927	1136	40	1		1	SCAP	3	47460252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	47460252	150562178	4045	14362											
SCAP	22937	broad.mit.edu	37	chr3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatagctgaagagcgtcGgccagtggcggaaggacaat	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	634					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGAGCGTCGGCCAGTGGCG	0.582																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1900-1902)cCg>cTg		SREBF chaperone							57	55	55					3																	47460857		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460857G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1901C>T	3.37:g.47460857G>A	ENSP00000265565:p.Pro634Leu					SCAP_ENST00000545718.1_Missense_Mutation_p.P242L|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L	p.P634L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2313	-			634					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1901C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	33	5.284507	0.95517	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.84800	-1.9;-1.86;0.25	4.48	4.48	0.54585	.	0.057304	0.64402	D	0.000001	D	0.91372	0.7278	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.92528	0.6031	10	0.87932	D	0	-23.6223	16.9316	0.86191	0.0:0.0:1.0:0.0	.	379;634	F8W921;Q12770	.;SCAP_HUMAN	L	261;634;379;242	ENSP00000265565:P634L;ENSP00000416847:P379L;ENSP00000438956:P242L	ENSP00000265565:P634L	P	-	2	0	SCAP	47435861	1.000000	0.71417	0.934000	0.37439	0.986000	0.74619	9.336000	0.96533	2.316000	0.78162	0.462000	0.41574	CCG		0.582	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		12	325	0	0	0	1	0	12	325					A	47460857	G	A	47460857	3	1	79	1	0	0	0	0	1	0	0	0	13927	1116	39	1	1982	1	SCAP	3	47460857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	47460857	150561573	4046	14363											
SCAP	22937	broad.mit.edu	37	chr3	47467101	47467101	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaccatgtcgatcttcCctggagggcagagagggcgt	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000441517.2_Splice_Site_p.R49Q|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	304	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTCGATCTTCCCTGGAGGGCA	0.652																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.e8-1		SREBF chaperone							72	68	69					3																	47467101		2203	4300	6503	SO:0001630	splice_region_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47467101C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.911-1G>A	3.37:g.47467101C>T						SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Splice_Site_p.R49_splice	p.R304_splice	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	8	1323	-			304			SSD.		Q8N2E0|Q8WUA1	Splice_Site	SNP	ENST00000265565.5	37	c.910_splice	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	37	6.098913	0.97281	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.93247	-3.19;-3.19	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	L	0.52364	1.645	0.80722	D	1	P;D	0.54601	0.95;0.967	P;P	0.59288	0.613;0.855	D	0.94139	0.7395	10	0.45353	T	0.12	.	18.9933	0.92803	0.0:1.0:0.0:0.0	.	49;304	F8W921;Q12770	.;SCAP_HUMAN	Q	304;304;49	ENSP00000265565:R304Q;ENSP00000416847:R49Q	ENSP00000265565:R304Q	R	-	2	0	SCAP	47442105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.413000	0.80104	2.820000	0.97059	0.650000	0.86243	CGG		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	Missense_Mutation	69	289	0	0	0	1	0	69	289					T	47467101	C	T	47467101	5	4	79	1	0	0	0	0	0	0	1	0	13927	637	22	2	2992	2	SCAP	3	47467101	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6244	47467101	150555329	4047	14364											
C3orf75	54859	broad.mit.edu	37	chr3	47545887	47545887	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccactgcagacttgagtcCctcaaggaacacaagctgcc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47545887C>A	ENST00000296149.4	-	4	426	c.256G>T	c.(256-258)Gga>Tga	p.G86*	ELP6_ENST00000439305.1_Nonsense_Mutation_p.G13*|ELP6_ENST00000446787.1_Nonsense_Mutation_p.G13*	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	86					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GACTTGAGTCCCTCAAGGAAC	0.562																																						ENST00000296149.4																			0											c.(256-258)Gga>Tga		elongator acetyltransferase complex subunit 6							65	70	68					3																	47545887		2031	4180	6211	SO:0001587	stop_gained	54859							g.chr3:47545887C>A	AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"Elongator acetyltransferase complex subunits"	25976	protein-coding gene	gene with protein product		615020	"transmembrane protein 103", "chromosome 3 open reading frame 75"	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.256G>T	3.37:g.47545887C>A	ENSP00000296149:p.Gly86*					ELP6_ENST00000446787.1_Nonsense_Mutation_p.G13*|ELP6_ENST00000439305.1_Nonsense_Mutation_p.G13*	p.G86*	NM_001031703.2	NP_001026873.2					4	426	-								Q9BW57|Q9NXJ3	Nonsense_Mutation	SNP	ENST00000296149.4	37	c.256G>T	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182322	0.78677	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760;ENST00000425291;ENST00000449409;ENST00000414236	.	.	.	6.06	6.06	0.98353	.	0.091404	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.1737	18.1147	0.89549	0.0:1.0:0.0:0.0	.	.	.	.	X	86;62;13;13;13;13;13;13;13	.	ENSP00000296149:G86X	G	-	1	0	C3orf75	47520891	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	6.021000	0.70832	2.882000	0.98803	0.655000	0.94253	GGA		0.562	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1	NM_017713		50	234	1	0	1.81118e-26	1	2.08805e-26	50	234					A	47545887	C	A	47545887	4	1	79	1	0	0	0	0	0	1	0	0	2252	632	22	3	560	3	C3orf75	3	47545887	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78786	47545887	150476543	4048	14365											
CSPG5	10675	broad.mit.edu	37	chr3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccacgaccctcaccatccAgtccttcgaagtagtcgatg	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	216					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(646-648)cTg>cCg		chondroitin sulfate proteoglycan 5 (neuroglycan C)							49	50	50					3																	47618869		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618869A>G	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.647T>C	3.37:g.47618869A>G	ENSP00000373244:p.Leu216Pro					CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P	p.L216P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2745	-			216					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.647T>C	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935608	0.73442	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.56444	0.46;0.46;0.46	4.41	4.41	0.53225	Chondroitin sulphate attachment (1);	0.238565	0.28544	N	0.014970	T	0.58680	0.2139	L	0.27053	0.805	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59994	-0.7349	10	0.46703	T	0.11	-9.1734	12.8895	0.58064	1.0:0.0:0.0:0.0	.	216;216	O95196;O95196-2	CSPG5_HUMAN;.	P	78;216;216	ENSP00000392096:L78P;ENSP00000373244:L216P;ENSP00000264723:L216P	ENSP00000264723:L216P	L	-	2	0	CSPG5	47593873	0.947000	0.32204	0.998000	0.56505	0.990000	0.78478	3.974000	0.56852	1.969000	0.57287	0.523000	0.50628	CTG		0.587	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		41	204	0	0	0	1	0	41	204					G	47618869	A	G	47618869	3	3	79	1	0	0	0	0	1	0	0	0	3972	188	7	4	988	4	CSPG5	3	47618869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72982	47618869	150403561	4049	14366											
CSPG5	10675	broad.mit.edu	37	chr3	47619042	47619042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgggctcagcttgtcGccgggggtgggggagggtgg	23	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000264723.4_Silent_p.G158G|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.G20G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	158					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(472-474)ggC>ggT		chondroitin sulfate proteoglycan 5 (neuroglycan C)							26	33	31					3																	47619042		2195	4292	6487	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619042G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.474C>T	3.37:g.47619042G>A						CSPG5_ENST00000456150.1_Silent_p.G20G|CSPG5_ENST00000264723.4_Silent_p.G158G	p.G158G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2572	-			158					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.474C>T	CCDS56253.1																																																																																				0.667	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		90	353	0	0	0	1	0	90	353					A	47619042	G	A	47619042	2	1	79	1	0	0	0	0	0	0	0	1	3972	1074	38	1		1	CSPG5	3	47619042	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173	47619042	150403388	4050	14367											
SMARCC1	6599	broad.mit.edu	37	chr3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttccatttgctgtcgtgctCgtaattcagcatacttcagc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	953					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTCGTGCTCGTAATTCAGC	0.537																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2857-2859)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							300	265	276					3																	47651741		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47651741C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2858G>A	3.37:g.47651741C>T	ENSP00000254480:p.Arg953Gln					SMARCC1_ENST00000425518.1_5'UTR	p.R953Q	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2977	-			953					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2858G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934430	0.52866	.	.	ENSG00000173473	ENST00000254480	T	0.16597	2.33	6.06	5.19	0.71726	.	0.062950	0.64402	D	0.000016	T	0.32882	0.0844	M	0.75447	2.3	0.46078	D	0.99885	D	0.58268	0.982	P	0.51415	0.669	T	0.17992	-1.0351	10	0.87932	D	0	-11.0315	14.4989	0.67707	0.0:0.9302:0.0:0.0698	.	953	Q92922	SMRC1_HUMAN	Q	953	ENSP00000254480:R953Q	ENSP00000254480:R953Q	R	-	2	0	SMARCC1	47626745	1.000000	0.71417	0.868000	0.34077	0.009000	0.06853	4.547000	0.60712	1.571000	0.49722	-0.140000	0.14226	CGA		0.537	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			47	1101	0	0	0	1	0	47	1101					T	47651741	C	T	47651741	3	4	79	1	0	0	0	0	1	0	0	0	14825	884	31	1	471	1	SMARCC1	3	47651741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32699	47651741	150370689	4051	14368											
SMARCC1	6599	broad.mit.edu	37	chr3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcttctatattgggtAcaggtgttgggtcttccata	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	377					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1129-1131)gTa>gCa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							176	164	168					3																	47742803		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47742803A>G	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1130T>C	3.37:g.47742803A>G	ENSP00000254480:p.Val377Ala					SMARCC1_ENST00000425518.1_5'UTR	p.V377A	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	11	1249	-			377					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1130T>C	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212239	0.39102	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.62	5.62	0.85841	.	0.050986	0.85682	D	0.000000	T	0.44138	0.1279	M	0.64404	1.975	0.38441	D	0.946719	P	0.36753	0.568	B	0.38106	0.265	T	0.46624	-0.9178	10	0.35671	T	0.21	-20.6406	14.9784	0.71293	1.0:0.0:0.0:0.0	.	377	Q92922	SMRC1_HUMAN	A	377	ENSP00000254480:V377A	ENSP00000254480:V377A	V	-	2	0	SMARCC1	47717807	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.188000	0.65093	2.263000	0.75096	0.524000	0.50904	GTA		0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			61	284	0	0	0	1	0	61	284					G	47742803	A	G	47742803	3	3	79	1	0	0	0	0	1	0	0	0	14825	391	14	4	2259	4	SMARCC1	3	47742803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91062	47742803	150279627	4052	14369											
DHX30	22907	broad.mit.edu	37	chr3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattaaaagagttcccacaGcccaaaaatcttctcaacag	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000445061.1	+	5	563	c.156G>T	c.(154-156)caG>caT	p.Q52H	DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	52						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCCCACAGCCCAAAAATC	0.398																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(37-39)caG>caT		DEAH (Asp-Glu-Ala-His) box helicase 30							80	79	79					3																	47868868		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47868868G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.156G>T	3.37:g.47868868G>T	ENSP00000405620:p.Gln52His					DHX30_ENST00000445061.1_Missense_Mutation_p.Q52H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H	p.Q13H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	611	+			52					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.39G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144990	0.37825	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	5.42	3.64	0.41730	.	0.210963	0.40818	N	0.001014	T	0.04003	0.0112	L	0.36672	1.1	0.40277	D	0.978354	B;P;P	0.40032	0.42;0.555;0.699	B;B;B	0.39935	0.119;0.237;0.314	T	0.54642	-0.8263	10	0.37606	T	0.19	.	9.2676	0.37650	0.1633:0.0:0.8367:0.0	.	52;13;80	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	13;52;24;80	ENSP00000392601:Q13H;ENSP00000405620:Q52H;ENSP00000343442:Q24H;ENSP00000394682:Q80H	ENSP00000343442:Q24H	Q	+	3	2	DHX30	47843872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	0.677000	0.31305	-0.136000	0.14681	CAG		0.398	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		31	337	1	0	2.46105e-21	1	2.77029e-21	31	337					T	47868868	G	T	47868868	3	4	79	1	0	0	0	0	1	0	0	0	4520	962	34	3	177	3	DHX30	3	47868868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126065	47868868	150153562	4053	14370											
DHX30	22907	broad.mit.edu	37	chr3	47882405	47882405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggaatgagttgtttgaCgcagccaaataccgagtgct	11	11	0	2	rs374999228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000445061.1	+	7	812	c.405C>T	c.(403-405)gaC>gaT	p.D135D	DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000457607.1_Silent_p.D163D|DHX30_ENST00000348968.4_Silent_p.D107D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	135						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTGTTTGACGCAGCCAAAT	0.582																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)gaC>gaT		DEAH (Asp-Glu-Ala-His) box helicase 30		C	,	0,4406		0,0,2203	61	56	58		288,405	1	1	3		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DHX30	NM_014966.3,NM_138615.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1156,135/1195	47882405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882405C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.405C>T	3.37:g.47882405C>T						DHX30_ENST00000445061.1_Silent_p.D135D|DHX30_ENST00000348968.4_Silent_p.D107D|DHX30_ENST00000457607.1_Silent_p.D163D	p.D96D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	860	+			135			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.288C>T	CCDS2759.1																																																																																				0.582	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		63	284	0	0	0	1	0	63	284					T	47882405	C	T	47882405	2	4	79	1	0	0	0	0	0	0	0	1	4520	535	19	1		1	DHX30	3	47882405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13537	47882405	150140025	4054	14371											
DHX30	22907	broad.mit.edu	37	chr3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaccaagctgtctacaCtcaccctgctctggccctgc	7	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000445061.1	+	9	1245	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	DHX30_ENST00000446256.2_Missense_Mutation_p.L241F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	280						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGTCTACACTCACCCTGCT	0.532																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(721-723)Ctc>Ttc		DEAH (Asp-Glu-Ala-His) box helicase 30							156	141	146					3																	47884644		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47884644C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.838C>T	3.37:g.47884644C>T	ENSP00000405620:p.Leu280Phe					DHX30_ENST00000445061.1_Missense_Mutation_p.L280F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F	p.L241F	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1293	+			280					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.721C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705149	0.89018	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04706	3.63;3.6;3.62;3.57	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.19287	0.0463	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.00137	-1.2004	10	0.51188	T	0.08	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	280;241	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	F	241;280;252;308	ENSP00000392601:L241F;ENSP00000405620:L280F;ENSP00000343442:L252F;ENSP00000394682:L308F	ENSP00000343442:L252F	L	+	1	0	DHX30	47859648	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.579000	0.67457	2.451000	0.82905	0.591000	0.81541	CTC		0.532	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		102	503	0	0	0	1	0	102	503					T	47884644	C	T	47884644	3	4	79	1	0	0	0	0	1	0	0	0	4520	565	20	2	875	2	DHX30	3	47884644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2239	47884644	150137786	4055	14372											
DHX30	22907	broad.mit.edu	37	chr3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgagcccatcctccGcaagatagagaccttcctga	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000445061.1	+	10	1474	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DHX30_ENST00000446256.2_Missense_Mutation_p.R317H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	356						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATCCTCCGCAAGATAGAG	0.597																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(949-951)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 30							97	82	87					3																	47887317		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887317G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1067G>A	3.37:g.47887317G>A	ENSP00000405620:p.Arg356His					DHX30_ENST00000445061.1_Missense_Mutation_p.R356H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H	p.R317H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	1522	+			356					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.950G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602048	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03272	4.0;4.0;4.0;3.99	5.38	4.5	0.54988	.	0.295143	0.36815	N	0.002387	T	0.03136	0.0092	L	0.36672	1.1	0.39684	D	0.970949	P;P	0.47677	0.803;0.899	B;B	0.36030	0.075;0.216	T	0.50906	-0.8772	10	0.49607	T	0.09	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	356;317	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	317;356;328;384	ENSP00000392601:R317H;ENSP00000405620:R356H;ENSP00000343442:R328H;ENSP00000394682:R384H	ENSP00000343442:R328H	R	+	2	0	DHX30	47862321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.898000	0.48672	2.527000	0.85204	0.655000	0.94253	CGC		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		61	251	0	0	0	1	0	61	251					A	47887317	G	A	47887317	3	1	79	1	0	0	0	0	1	0	0	0	4520	1087	38	1	1108	1	DHX30	3	47887317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	47887317	150135113	4056	14373											
DHX30	22907	broad.mit.edu	37	chr3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggctgctgaaggagctgCggcgggccctgggccgcatg	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000445061.1	+	22	3831	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1142						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGGAGCTGCGGCGGGCCCT	0.697											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3307-3309)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box helicase 30							23	24	24					3																	47891449		2200	4297	6497	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891449C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3424C>T	3.37:g.47891449C>T	ENSP00000405620:p.Arg1142Trp		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1142W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W	p.R1103W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3879	+			1142					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3307C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214897	0.79352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.10192	2.95;2.92;2.94;2.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.03662	-1.1015	10	0.87932	D	0	.	16.6955	0.85334	0.0:1.0:0.0:0.0	.	1142;1103	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1103;1142;1114;1170	ENSP00000392601:R1103W;ENSP00000405620:R1142W;ENSP00000343442:R1114W;ENSP00000394682:R1170W	ENSP00000343442:R1114W	R	+	1	2	DHX30	47866453	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.851000	0.55926	2.160000	0.67779	0.462000	0.41574	CGG		0.697	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		31	202	0	0	0	1	0	31	202					T	47891449	C	T	47891449	3	4	79	1	0	0	0	0	1	0	0	0	4520	759	27	1	3513	1	DHX30	3	47891449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4132	47891449	150130981	4057	14374											
DHX30	22907	broad.mit.edu	37	chr3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtggagcggagcctgCgcagcgagctggctgcactt	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000445061.1	+	22	3867	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1154						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGAGCCTGCGCAGCGAGCT	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3343-3345)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box helicase 30							19	22	21					3																	47891485		2198	4298	6496	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891485C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3460C>T	3.37:g.47891485C>T	ENSP00000405620:p.Arg1154Cys		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1154C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C	p.R1115C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3915	+			1154					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3343C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701653	0.30142	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.0	5.0	0.66597	.	0.304423	0.35772	N	0.003000	T	0.02342	0.0072	N	0.12182	0.205	0.45056	D	0.998076	B;B	0.17667	0.006;0.023	B;B	0.15484	0.001;0.013	T	0.51896	-0.8647	10	0.41790	T	0.15	.	6.0639	0.19852	0.1895:0.7111:0.0:0.0994	.	1154;1115	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	1115;1154;1126;1182	ENSP00000392601:R1115C;ENSP00000405620:R1154C;ENSP00000343442:R1126C;ENSP00000394682:R1182C	ENSP00000343442:R1126C	R	+	1	0	DHX30	47866489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.043000	0.41231	2.303000	0.77524	0.462000	0.41574	CGC		0.692	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		26	129	0	0	0	1	0	26	129					T	47891485	C	T	47891485	3	4	79	1	0	0	0	0	1	0	0	0	4520	768	27	1	3549	1	DHX30	3	47891485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	47891485	150130945	4058	14375											
MAP4	4134	broad.mit.edu	37	chr3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaggtgctctttgggCgactcaagtcagctgcaaag	15	8	3	0	rs371272228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000360240.6	-	13	3097	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000426837.2_Missense_Mutation_p.R2005H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	860					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTCTTTGGGCGACTCAAGTC	0.567																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6013-6015)cGc>cAc		microtubule-associated protein 4		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	77	76		2579,2579	3.9	0.7	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	860/1136,860/1153	47912583	1,13005	2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912583C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2579G>A	3.37:g.47912583C>T	ENSP00000353375:p.Arg860His					MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000360240.6_Missense_Mutation_p.R860H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H	p.R2005H			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	6101	-			860					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.6014G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432443	0.83776	0.0	1.16E-4	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.36157	2.82;1.3;2.93;3.09;2.92;2.08;2.0;1.27	5.65	3.88	0.44766	.	.	.	.	.	T	0.57695	0.2071	M	0.72894	2.215	0.25677	N	0.985832	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.066	D;D;D;D;D;B	0.97110	0.995;1.0;1.0;0.999;0.999;0.01	T	0.49707	-0.8911	9	0.66056	D	0.02	-1.0124	11.2513	0.49028	0.0:0.8533:0.0:0.1467	.	591;595;860;860;595;588	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1	.;.;.;MAP4_HUMAN;.;.	H	588;595;860;2005;860;591;226;12;595	ENSP00000373243:R588H;ENSP00000264724:R595H;ENSP00000379083:R860H;ENSP00000407602:R2005H;ENSP00000353375:R860H;ENSP00000409731:R591H;ENSP00000334770:R226H;ENSP00000415130:R12H	ENSP00000264724:R595H	R	-	2	0	MAP4	47887587	1.000000	0.71417	0.705000	0.30386	0.968000	0.65278	4.674000	0.61612	0.754000	0.32968	0.655000	0.94253	CGC		0.567	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		99	413	0	0	0	1	0	99	413					T	47912583	C	T	47912583	3	4	79	1	0	0	0	0	1	0	0	0	9299	768	27	1	1058	1	MAP4	3	47912583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21098	47912583	150109847	4059	14376											
CAMP	820	broad.mit.edu	37	chr3	48266102	48266102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttccagctggtgaagCggtgtatggggacagtgacc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266102C>T	ENST00000576243.1	+	3	459	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CAMP_ENST00000296435.2_Missense_Mutation_p.R110W			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	107					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGTGAAGCGGTGTATGGG	0.562																																						ENST00000296435.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(328-330)Cgg>Tgg		cathelicidin antimicrobial peptide							141	133	136					3																	48266102		2203	4300	6503	SO:0001583	missense	820				killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region		g.chr3:48266102C>T	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.319C>T	3.37:g.48266102C>T	ENSP00000458149:p.Arg107Trp					CAMP_ENST00000576243.1_Missense_Mutation_p.R107W	p.R110W	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	484	+			107					Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	37	c.328C>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252772	0.22965	.	.	ENSG00000164047	ENST00000296435	.	.	.	5.49	0.3	0.15776	.	1.302650	0.04982	N	0.465755	T	0.27384	0.0672	L	0.28115	0.83	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.25293	-1.0136	9	0.51188	T	0.08	-12.3855	1.361	0.02191	0.1512:0.4512:0.147:0.2506	.	107	P49913	CAMP_HUMAN	W	107	.	ENSP00000296435:R107W	R	+	1	2	CAMP	48241106	0.008000	0.16893	0.009000	0.14445	0.756000	0.42949	-0.105000	0.10907	0.099000	0.17552	-0.254000	0.11334	CGG		0.562	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		71	420	0	0	0	1	0	71	420					T	48266102	C	T	48266102	3	4	79	1	0	0	0	0	1	0	0	0	2617	759	27	1	329	1	CAMP	3	48266102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353519	48266102	149756328	4060	14377											
CAMP	820	broad.mit.edu	37	chr3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctaaagagaagattggcaAagagtttaaaagaattgtcc	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000576243.1	+	4	583	c.443A>G	c.(442-444)aAa>aGa	p.K148R	CAMP_ENST00000296435.2_Missense_Mutation_p.K151R			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	148					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468																																						ENST00000296435.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(451-453)aAa>aGa		cathelicidin antimicrobial peptide							118	130	126					3																	48266844		2203	4300	6503	SO:0001583	missense	820				killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region		g.chr3:48266844A>G	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.443A>G	3.37:g.48266844A>G	ENSP00000458149:p.Lys148Arg					CAMP_ENST00000576243.1_Missense_Mutation_p.K148R	p.K151R	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	4	608	+			148					Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	37	c.452A>G		.	.	.	.	.	.	.	.	.	.	A	9.524	1.109045	0.20714	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.43	-7.69	0.01263	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.918670	0.01955	N	0.042902	T	0.15046	0.0363	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.25106	T	0.35	-0.4611	7.0673	0.25159	0.425:0.0:0.455:0.12	.	148	P49913	CAMP_HUMAN	R	148	.	ENSP00000296435:K148R	K	+	2	0	CAMP	48241848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-1.492000	0.01838	-0.232000	0.12228	AAA		0.468	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		140	674	0	0	0	1	0	140	674					G	48266844	A	G	48266844	3	3	79	1	0	0	0	0	1	0	0	0	2617	14	1	4	457	4	CAMP	3	48266844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	742	48266844	149755586	4061	14378											
PLXNB1	5364	broad.mit.edu	37	chr3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgctctccagggacataaTcctggttttcccggagcaca	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1863					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGACATAATCCTGGTTTTC	0.632																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5587-5589)gAt>gGt		plexin B1							107	98	101					3																	48451722		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48451722T>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5588A>G	3.37:g.48451722T>C	ENSP00000351338:p.Asp1863Gly					PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G	p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	31	5857	-			1863					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5588A>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824221	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056764	0.64402	U	0.000002	T	0.29914	0.0748	M	0.64997	1.995	0.80722	D	1	D;B	0.64830	0.994;0.222	D;B	0.69142	0.962;0.199	T	0.02214	-1.1194	10	0.27082	T	0.32	.	12.0712	0.53618	0.0:0.0:0.0:1.0	.	1863;1680	O43157;O43157-2	PLXB1_HUMAN;.	G	1863;1680;1863;474;1680	ENSP00000296440:D1863G;ENSP00000351242:D1680G;ENSP00000351338:D1863G;ENSP00000389320:D474G;ENSP00000414199:D1680G	ENSP00000296440:D1863G	D	-	2	0	PLXNB1	48426726	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.639000	0.83342	1.422000	0.47177	0.460000	0.39030	GAT		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		28	118	0	0	0	1	0	28	118					C	48451722	T	C	48451722	3	2	79	1	0	0	0	0	1	0	0	0	12165	1435	50	4	851	4	PLXNB1	3	48451722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184878	48451722	149570708	4062	14379											
PLXNB1	5364	broad.mit.edu	37	chr3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttagagagctgccccaGcccttgctccacagtgggcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1603					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGCCCCAGCCCTTGCTCC	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4807-4809)Ctg>Atg		plexin B1							38	42	41					3																	48454198		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454198G>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4807C>A	3.37:g.48454198G>T	ENSP00000351338:p.Leu1603Met					PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M	p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5076	-			1603					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4807C>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339755	0.60963	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.11	3.23	0.37069	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.177773	0.38381	N	0.001713	T	0.33000	0.0848	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05178	-1.0901	10	0.36615	T	0.2	.	5.5039	0.16844	0.3324:0.0:0.6676:0.0	.	1603;1420	O43157;O43157-2	PLXB1_HUMAN;.	M	1603;1420;1603;214;1420	ENSP00000296440:L1603M;ENSP00000351242:L1420M;ENSP00000351338:L1603M;ENSP00000389320:L214M;ENSP00000414199:L1420M	ENSP00000296440:L1603M	L	-	1	2	PLXNB1	48429202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.458000	0.45014	1.064000	0.40671	0.551000	0.68910	CTG		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		51	234	1	0	1.83081e-24	1	2.09304e-24	51	234					T	48454198	G	T	48454198	3	4	79	1	0	0	0	0	1	0	0	0	12165	962	34	3	1656	3	PLXNB1	3	48454198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2476	48454198	149568232	4063	14380											
PLXNB1	5364	broad.mit.edu	37	chr3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcatggctgccacttgcaGacagcccagctcaggctgga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	534					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTTGCAGACAGCCCAGC	0.632																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1600-1602)Ctg>Atg		plexin B1							44	43	43					3																	48463136		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463136G>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1600C>A	3.37:g.48463136G>T	ENSP00000351338:p.Leu534Met					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M	p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1869	-			534					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1600C>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826166	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.93;3.9;3.93	5.62	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.12433	0.0302	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.00909	-1.1518	10	0.46703	T	0.11	.	10.3248	0.43787	0.2161:0.0:0.7839:0.0	.	534;534	O43157;O43157-2	PLXB1_HUMAN;.	M	534	ENSP00000296440:L534M;ENSP00000351242:L534M;ENSP00000351338:L534M;ENSP00000414199:L534M	ENSP00000296440:L534M	L	-	1	2	PLXNB1	48438140	1.000000	0.71417	0.694000	0.30210	0.174000	0.22865	2.154000	0.42291	0.738000	0.32606	0.655000	0.94253	CTG		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		54	254	1	0	1.59911e-31	1	1.88313e-31	54	254					T	48463136	G	T	48463136	3	4	79	1	0	0	0	0	1	0	0	0	12165	933	33	3	4935	3	PLXNB1	3	48463136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8938	48463136	149559294	4064	14381											
ATRIP	84126	broad.mit.edu	37	chr3	48495698	48495698	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttcttttgccttccAgctccaatcattgcagtctg	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000320211.3	+	4	665		c.e4-1		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.e4-1	Other conserved DNA damage response genes	ATR interacting protein							137	143	141					3																	48495698		2203	4300	6503	SO:0001630	splice_region_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48495698A>C	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.553-1A>C	3.37:g.48495698A>C						ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000320211.3_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site		NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	735	+								A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	37		CCDS2768.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815203	0.70912	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.136	0.65289	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48470702	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.099000	0.76981	2.222000	0.72286	0.533000	0.62120	.		0.393	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	Intron	111	685	0	0	0	1	0	111	685					C	48495698	A	C	48495698	5	2	79	1	0	0	0	0	0	0	1	0	1206	202	7	4	565	4	ATRIP	3	48495698	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32562	48495698	149526732	4065	14382											
ATRIP	84126	broad.mit.edu	37	chr3	48506304	48506304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggggacccccaaggacCgaccagcagaggcggacagt	16	13	0	1	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000320211.3	+	12	2243	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000412052.1_Silent_p.T617T|ATRIP_ENST00000357105.6_Silent_p.T583T|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000422277.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	710					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		20691	0.0		0.0	False		,,,				2504	0.0					ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1849-1851)acC>acT	Other conserved DNA damage response genes	ATR interacting protein							57	51	53					3																	48506304		2203	4300	6503	SO:0001819	synonymous_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506304C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2130C>T	3.37:g.48506304C>T						ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000320211.3_Silent_p.T710T|ATRIP_ENST00000357105.6_Silent_p.T583T	p.T617T	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	2313	+			710					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	ENST00000320211.3	37	c.1851C>T	CCDS2768.1																																																																																				0.642	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		42	181	0	0	0	1	0	42	181					T	48506304	C	T	48506304	2	4	79	1	0	0	0	0	0	0	0	1	1206	639	23	1		1	ATRIP	3	48506304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10606	48506304	149516126	4066	14383											
TREX1	11277	broad.mit.edu	37	chr3	48508597	48508597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagctacagcctaggcagCatctacactcgcctgtatgg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000422277.2	+	1	1369	c.708C>T	c.(706-708)agC>agT	p.S236S	TREX1_ENST00000436480.2_Silent_p.S181S|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000456089.1_Silent_p.S42S|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000296443.9_Silent_p.S181S	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	236					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(541-543)agC>agT		three prime repair exonuclease 1							61	62	61					3																	48508597		2203	4300	6503	SO:0001819	synonymous_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508597C>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.708C>T	3.37:g.48508597C>T						TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Silent_p.S236S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000436480.2_Silent_p.S181S	p.S181S			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1430	+			236					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	ENST00000422277.2	37	c.543C>T	CCDS43086.1																																																																																				0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		51	231	0	0	0	1	0	51	231					T	48508597	C	T	48508597	2	4	79	1	0	0	0	0	0	0	0	1	16529	709	25	2		2	TREX1	3	48508597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	48508597	149513833	4067	14384											
PFKFB4	5210	broad.mit.edu	37	chr3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaatccagttcaggtatCgagtcagcttcttggagatg	10	10	3	1	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000232375.3	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	61	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(181-183)cGa>cAa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							141	113	123					3																	48587583		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48587583C>T	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.182G>A	3.37:g.48587583C>T	ENSP00000232375:p.Arg61Gln					PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q	p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	2	294	-			61			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.182G>A	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561027	0.96527	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.89	0.63831	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.993;0.994;0.997;0.966	D	0.89580	0.3820	9	0.87932	D	0	-5.0995	15.5865	0.76489	0.0:1.0:0.0:0.0	.	50;61;61;61	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	Q	61;50;61;61;27;61;50;27;64	.	ENSP00000232375:R61Q	R	-	2	0	PFKFB4	48562587	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.737000	0.68606	2.532000	0.85374	0.655000	0.94253	CGA		0.562	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		48	220	0	0	0	1	0	48	220					T	48587583	C	T	48587583	3	4	79	1	0	0	0	0	1	0	0	0	11805	884	31	1	1279	1	PFKFB4	3	48587583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	48587583	149434847	4068	14385											
UCN2	90226	broad.mit.edu	37	chr3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggagaattctgagggCggagctggaaggttgggata	19	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H	COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTCTGAGGGCGGAGCTGGAA	0.637																																						ENST00000273610.3																			0											c.(91-93)cGc>cAc		urocortin 2							42	41	42					3																	48600466		2203	4300	6503	SO:0001583	missense	90226				cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding	g.chr3:48600466C>T	AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"Endogenous ligands"	18414	protein-coding gene	gene with protein product	"prepro-urocortin 2"	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.92G>A	3.37:g.48600466C>T	ENSP00000273610:p.Arg31His						p.R31H	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	174	-			31					Q9BUG0	Missense_Mutation	SNP	ENST00000273610.3	37	c.92G>A	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	C	9.062	0.994809	0.19043	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-1.96	0.07525	.	1.516670	0.04388	N	0.361943	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	9	0.46703	T	0.11	-14.0371	1.3254	0.02124	0.3784:0.1599:0.3189:0.1429	.	31	Q96RP3	UCN2_HUMAN	H	31	.	ENSP00000273610:R31H	R	-	2	0	UCN2	48575470	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.038000	0.13862	-0.329000	0.08527	-1.104000	0.02111	CGC		0.637	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	NM_033199		19	86	0	0	0	1	0	19	86					T	48600466	C	T	48600466	3	4	79	1	0	0	0	0	1	0	0	0	16982	768	27	1	250	1	UCN2	3	48600466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12883	48600466	149421964	4069	14386											
COL7A1	1294	broad.mit.edu	37	chr3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctctccccggtctccttTgatgcctggcacaccctgaa	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2137	Triple-helical region.				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)		CGGTCTCCTTTGATGCCTGGC	0.622																																						ENST00000328333.8																			0				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						c.(6409-6411)Aaa>Gaa		collagen, type VII, alpha 1							61	53	56					3																	48611968		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611968T>C	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.6409A>G	3.37:g.48611968T>C	ENSP00000332371:p.Lys2137Glu					COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	p.K2137E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	78	6516	-			2137			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6409A>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991386	0.35131	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	4.71	4.71	0.59529	.	0.000000	0.42172	D	0.000743	D	0.95258	0.8462	M	0.79258	2.445	0.29570	N	0.849991	D	0.64830	0.994	D	0.64506	0.926	D	0.90654	0.4585	10	0.10111	T	0.7	.	13.4488	0.61158	0.0:0.0:0.0:1.0	.	2137	Q02388	CO7A1_HUMAN	E	2137;2105	ENSP00000332371:K2137E;ENSP00000412569:K2105E	ENSP00000332371:K2137E	K	-	1	0	COL7A1	48586972	0.983000	0.35010	1.000000	0.80357	0.136000	0.21042	2.066000	0.41452	2.099000	0.63709	0.460000	0.39030	AAA		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		47	174	0	0	0	1	0	47	174					C	48611968	T	C	48611968	3	2	79	1	0	0	0	0	1	0	0	0	3713	1821	63	4	2589	4	COL7A1	3	48611968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11502	48611968	149410462	4070	14387											
COL7A1	1294	broad.mit.edu	37	chr3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacacccccagccctgCctgggagcccgggaatacca	9	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2046	Triple-helical region.		G -> V (in DDEB).		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)		CCCAGCCCTGCCTGGGAGCCC	0.721																																						ENST00000328333.8																			0				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	GRCh37	CM992849	COL7A1	M		c.(6136-6138)gGc>gAc		collagen, type VII, alpha 1							18	20	19					3																	48612815		2200	4294	6494	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612815C>T	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.6137G>A	3.37:g.48612815C>T	ENSP00000332371:p.Gly2046Asp					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	p.G2046D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6244	-			2046		G -> V (in DDEB).	Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6137G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122614	0.56613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.22	5.22	0.72569	.	0.433234	0.17763	N	0.162822	D	0.99736	0.9896	H	0.99011	4.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97496	1.0057	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2046	Q02388	CO7A1_HUMAN	D	2046;2014	ENSP00000332371:G2046D;ENSP00000412569:G2014D	ENSP00000332371:G2046D	G	-	2	0	COL7A1	48587819	1.000000	0.71417	0.977000	0.42913	0.921000	0.55340	7.570000	0.82390	2.426000	0.82243	0.563000	0.77884	GGC		0.721	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		46	208	0	0	0	1	0	46	208					T	48612815	C	T	48612815	3	4	79	1	0	0	0	0	1	0	0	0	3713	739	26	2	2881	2	COL7A1	3	48612815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	847	48612815	149409615	4071	14388											
COL7A1	1294	broad.mit.edu	37	chr3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccacattgattcacccGgtctccagggtctcccttgg	8	15	3	1	rs267599859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				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)		TGATTCACCCGGTCTCCAGGG	0.587																																						ENST00000328333.8																			0				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						c.(4780-4782)Cgg>Tgg		collagen, type VII, alpha 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101	106	104		4780	-2	0.2	3		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1594/2945	48619008	2,13004	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619008G>A	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.4780C>T	3.37:g.48619008G>A	ENSP00000332371:p.Arg1594Trp					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	49	4887	-			1594			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4780C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454391	0.43634	2.27E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.41	5.25	-1.97	0.07503	.	0.000000	0.42548	D	0.000689	D	0.95762	0.8621	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92216	0.5780	10	0.72032	D	0.01	.	15.715	0.77661	0.0:0.0:0.2756:0.7244	.	1594	Q02388	CO7A1_HUMAN	W	1594	ENSP00000332371:R1594W;ENSP00000412569:R1594W	ENSP00000332371:R1594W	R	-	1	2	COL7A1	48594012	0.393000	0.25237	0.249000	0.24280	0.176000	0.22953	0.247000	0.18179	-0.359000	0.08150	-0.183000	0.12914	CGG		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		94	357	0	0	0	1	0	94	357					A	48619008	G	A	48619008	3	1	79	1	0	0	0	0	1	0	0	0	3713	1115	39	1	4334	1	COL7A1	3	48619008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6193	48619008	149403422	4072	14389											
COL7A1	1294	broad.mit.edu	37	chr3	48621004	48621004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgctcacccggagaCccaggttgtcctgggaggcc	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1462	Interrupted collagenous region.|Triple-helical region.				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)		CACCCGGAGACCCAGGTTGTC	0.617																																						ENST00000328333.8																			0				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						c.(4384-4386)ggG>ggA		collagen, type VII, alpha 1							44	47	46					3																	48621004		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621004C>T	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.4386G>A	3.37:g.48621004C>T						COL7A1_ENST00000454817.1_Silent_p.G1462G	p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	40	4493	-			1462			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.4386G>A	CCDS2773.1																																																																																				0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		45	250	0	0	0	1	0	45	250					T	48621004	C	T	48621004	2	4	79	1	0	0	0	0	0	0	0	1	3713	494	18	2		2	COL7A1	3	48621004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1996	48621004	149401426	4073	14390											
COL7A1	1294	broad.mit.edu	37	chr3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctcaccggcagcccaGgctccccaggagcaatgcca	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1423	Interrupted collagenous region.|Triple-helical region.				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)		CGGCAGCCCAGGCTCCCCAGG	0.642																																						ENST00000328333.8																			0				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						c.(4267-4269)cCt>cTt		collagen, type VII, alpha 1							39	51	47					3																	48621343		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621343G>A	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.4268C>T	3.37:g.48621343G>A	ENSP00000332371:p.Pro1423Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	38	4375	-			1423			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4268C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182693	0.38511	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89270	-2.47;-2.49	5.2	5.2	0.72013	.	0.000000	0.46758	D	0.000273	D	0.94574	0.8252	M	0.86502	2.82	0.30089	N	0.808516	D	0.89917	1.0	D	0.66716	0.946	D	0.91979	0.5593	10	0.52906	T	0.07	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	1423	Q02388	CO7A1_HUMAN	L	1423	ENSP00000332371:P1423L;ENSP00000412569:P1423L	ENSP00000332371:P1423L	P	-	2	0	COL7A1	48596347	0.995000	0.38212	0.167000	0.22817	0.408000	0.30992	4.173000	0.58249	2.711000	0.92665	0.655000	0.94253	CCT		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		48	182	0	0	0	1	0	48	182					A	48621343	G	A	48621343	3	1	79	1	0	0	0	0	1	0	0	0	3713	1000	35	2	4890	2	COL7A1	3	48621343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339	48621343	149401087	4074	14391											
COL7A1	1294	broad.mit.edu	37	chr3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctccgatgacttgtcCgggagccccctgtaaggaca	10	14	1	1	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1353	Interrupted collagenous region.|Triple-helical region.				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)		ATGACTTGTCCGGGAGCCCCC	0.582																																						ENST00000328333.8																			0				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						c.(4057-4059)Gga>Tga		collagen, type VII, alpha 1							111	116	114					3																	48621980		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621980C>A	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.4057G>T	3.37:g.48621980C>A	ENSP00000332371:p.Gly1353*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	35	4164	-			1353			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.4057G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	43	10.205791	0.99359	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.33	5.33	0.75918	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7269	0.77766	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	.	G	-	1	0	COL7A1	48596984	0.003000	0.15002	0.987000	0.45799	0.235000	0.25334	0.395000	0.20850	2.489000	0.83994	0.655000	0.94253	GGA		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		34	826	1	0	3.90053e-15	1	4.25374e-15	34	826					A	48621980	C	A	48621980	4	1	79	1	0	0	0	0	0	1	0	0	3713	661	23	3	5113	3	COL7A1	3	48621980	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637	48621980	149400450	4075	14392											
COL7A1	1294	broad.mit.edu	37	chr3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgcggaaattgctgcGgccaatggatgaggagccat	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	51	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		AAATTGCTGCGGCCAATGGAT	0.602																																						ENST00000328333.8																			0				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	GRCh37	CM063914	COL7A1	M		c.(151-153)Cgc>Tgc		collagen, type VII, alpha 1							45	40	41					3																	48631916		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48631916G>A	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.151C>T	3.37:g.48631916G>A	ENSP00000332371:p.Arg51Cys					COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	258	-			51			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.151C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.657006	0.47467	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45606	D	0.000358	D	0.91955	0.7452	M	0.90977	3.165	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	D	0.92770	0.6231	10	0.62326	D	0.03	.	11.3221	0.49428	0.0:0.0:0.7699:0.2301	.	51	Q02388	CO7A1_HUMAN	C	51	ENSP00000332371:R51C;ENSP00000412569:R51C	ENSP00000332371:R51C	R	-	1	0	COL7A1	48606920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.425000	0.82216	0.555000	0.69702	CGC		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		43	151	0	0	0	1	0	43	151					A	48631916	G	A	48631916	3	1	79	1	0	0	0	0	1	0	0	0	3713	1116	39	1	9151	1	COL7A1	3	48631916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9936	48631916	149390514	4076	14393											
SLC26A6	65010	broad.mit.edu	37	chr3	48670685	48670685	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgaaggtggctcaccCtgcggaagctgcatgatggc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000395550.2	-	3	368	c.321G>T	c.(319-321)caG>caT	p.Q107H	SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000482282.1_5'UTR			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	107					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGCTCACCCTGCGGAAGCT	0.592																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.e2+1		solute carrier family 26 (anion exchanger), member 6							30	36	34					3																	48670685		2063	4199	6262	SO:0001630	splice_region_variant	65010							g.chr3:48670685C>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.322+1G>T	3.37:g.48670685C>A						SLC26A6_ENST00000383733.3_Splice_Site_p.Q107_splice|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107_splice|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107_splice	p.Q86_splice	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	508	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Splice_Site	SNP	ENST00000395550.2	37	c.259_splice	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816124	0.70912	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.95238	-3.17;-3.17;-3.17;-3.65;-3.17;-3.17;-3.17;-3.17	4.84	2.06	0.26882	.	.	.	.	.	D	0.97558	0.9200	H	0.95043	3.615	0.39669	D	0.970724	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	0.999;0.999;1.0;1.0;1.0;0.999	D	0.96489	0.9362	9	0.87932	D	0	.	8.4616	0.32931	0.0:0.6957:0.0:0.3043	.	107;107;107;107;107;3501	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	107;107;107;107;107;86;107;107;107	ENSP00000404684:Q107H;ENSP00000378920:Q107H;ENSP00000373239:Q107H;ENSP00000337648:Q107H;ENSP00000351597:Q86H;ENSP00000401066:Q107H;ENSP00000401813:Q107H;ENSP00000405872:Q107H	ENSP00000307089:Q107H	Q	-	3	2	SLC26A6	48645689	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.877000	0.28106	0.245000	0.21373	0.655000	0.94253	CAG		0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911	Missense_Mutation	21	79	1	0	0.000132079	1	0.000134276	21	79					A	48670685	C	A	48670685	5	1	79	1	0	0	0	0	0	0	1	0	14571	695	24	3	2070	3	SLC26A6	3	48670685	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38769	48670685	149351745	4077	14394											
SLC26A6	65010	broad.mit.edu	37	chr3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcataggcccgagcacgggaGcacctagggacatgatatga	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000395550.2	-	3	233	c.186C>A	c.(184-186)tgC>tgA	p.C62*	SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	62					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCACGGGAGCACCTAGGGA	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(121-123)tgC>tgA		solute carrier family 26 (anion exchanger), member 6							42	50	48					3																	48670820		1997	4141	6138	SO:0001587	stop_gained	65010							g.chr3:48670820G>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.186C>A	3.37:g.48670820G>T	ENSP00000378920:p.Cys62*					SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*	p.C41*	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	373	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Nonsense_Mutation	SNP	ENST00000395550.2	37	c.123C>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312981	0.81358	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.89	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2132	0.37331	0.4019:0.0:0.5981:0.0	.	.	.	.	X	62;62;62;62;62;41;62;62;62	.	ENSP00000307089:C62X	C	-	3	2	SLC26A6	48645824	0.938000	0.31826	0.995000	0.50966	0.226000	0.24999	0.050000	0.14120	0.278000	0.22164	-0.258000	0.10820	TGC		0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		57	215	1	0	2.85724e-49	1	3.53377e-49	57	215					T	48670820	G	T	48670820	4	4	79	1	0	0	0	0	0	1	0	0	14571	963	34	3	2205	3	SLC26A6	3	48670820	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	48670820	149351610	4078	14395											
CELSR3	1951	broad.mit.edu	37	chr3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgacccgaagcggccaGccatggcgccagggtagtcc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000164024.4	-	34	9684	c.9404C>A	c.(9403-9405)gCt>gAt	p.A3135D	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3135					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)			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)		GAAGCGGCCAGCCATGGCGCC	0.687																																						ENST00000544264.1																			0				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						c.(9418-9420)gCt>gAt		cadherin, EGF LAG seven-pass G-type receptor 3							35	36	36					3																	48677614		2201	4286	6487	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.chr3:48677614G>T	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.9404C>A	3.37:g.48677614G>T	ENSP00000164024:p.Ala3135Asp					CELSR3_ENST00000164024.4_Missense_Mutation_p.A3135D	p.A3140D			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9699	-			3135					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9419C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862507	0.32884	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	4.81	3.91	0.45181	.	.	.	.	.	T	0.54319	0.1851	N	0.14661	0.345	0.21697	N	0.999586	B;B;B	0.26258	0.145;0.09;0.112	B;B;B	0.27380	0.079;0.036;0.036	T	0.49790	-0.8902	9	0.54805	T	0.06	.	9.9508	0.41638	0.0:0.1512:0.692:0.1568	.	3140;3135;3233	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	D	3135;3140	ENSP00000164024:A3135D;ENSP00000445694:A3140D	ENSP00000164024:A3135D	A	-	2	0	CELSR3	48652618	1.000000	0.71417	0.383000	0.26132	0.720000	0.41350	4.780000	0.62382	0.970000	0.38263	0.555000	0.69702	GCT		0.687	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		84	307	1	0	9.4237e-28	1	1.09288e-27	84	307					T	48677614	G	T	48677614	3	4	79	1	0	0	0	0	1	0	0	0	3232	971	34	3	542	3	CELSR3	3	48677614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6794	48677614	149344816	4079	14396											
CELSR3	1951	broad.mit.edu	37	chr3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaggtcactgtcagagtCggagtctgcgcctggagttg	16	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000164024.4	-	32	8957	c.8677G>A	c.(8677-8679)Gac>Aac	p.D2893N	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2893					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)			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)		CTGTCAGAGTCGGAGTCTGCG	0.562																																						ENST00000544264.1																			0				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						c.(8692-8694)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 3							24	25	24					3																	48679431		2202	4289	6491	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.chr3:48679431C>T	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.8677G>A	3.37:g.48679431C>T	ENSP00000164024:p.Asp2893Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D2893N	p.D2898N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	8972	-			2893					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8692G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	.	.	.	.	.	D	0.90652	0.7068	M	0.82716	2.605	0.80722	D	1	P;P;D	0.89917	0.697;0.571;1.0	B;B;D	0.83275	0.103;0.048;0.996	D	0.91974	0.5589	9	0.87932	D	0	.	18.7191	0.91686	0.0:1.0:0.0:0.0	.	2898;2893;2991	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2893;2898	ENSP00000164024:D2893N;ENSP00000445694:D2898N	ENSP00000164024:D2893N	D	-	1	0	CELSR3	48654435	1.000000	0.71417	0.980000	0.43619	0.670000	0.39368	7.181000	0.77682	2.488000	0.83962	0.511000	0.50034	GAC		0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		16	112	0	0	0	1	0	16	112					T	48679431	C	T	48679431	3	4	79	1	0	0	0	0	1	0	0	0	3232	884	31	1	1277	1	CELSR3	3	48679431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1817	48679431	149342999	4080	14397											
CELSR3	1951	broad.mit.edu	37	chr3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcacagccctcacccaGcagcacagcagggacgcccc	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000164024.4	-	25	8249	c.7969C>A	c.(7969-7971)Ctg>Atg	p.L2657M	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2657					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)			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)		CCCTCACCCAGCAGCACAGCA	0.662																																						ENST00000544264.1																			0				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						c.(7984-7986)Ctg>Atg		cadherin, EGF LAG seven-pass G-type receptor 3							32	35	34					3																	48682471		2201	4297	6498	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.chr3:48682471G>T	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.7969C>A	3.37:g.48682471G>T	ENSP00000164024:p.Leu2657Met					CELSR3_ENST00000164024.4_Missense_Mutation_p.L2657M	p.L2662M			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	8264	-			2657					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7984C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365189	0.61513	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.47177	0.85;0.85	5.15	2.17	0.27698	GPCR, family 2-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.20986	0.625	0.27077	N	0.963176	D;D	0.64830	0.994;0.988	P;P	0.62491	0.903;0.9	T	0.23619	-1.0183	9	0.36615	T	0.2	.	1.2483	0.01977	0.1901:0.1252:0.4207:0.264	.	2657;2754	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2657;2662	ENSP00000164024:L2657M;ENSP00000445694:L2662M	ENSP00000164024:L2657M	L	-	1	2	CELSR3	48657475	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.228000	0.42981	0.555000	0.29079	-0.339000	0.08088	CTG		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		28	150	1	0	1.2476e-16	1	1.37204e-16	28	150					T	48682471	G	T	48682471	3	4	79	1	0	0	0	0	1	0	0	0	3232	962	34	3	2013	3	CELSR3	3	48682471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3040	48682471	149339959	4081	14398											
CELSR3	1951	broad.mit.edu	37	chr3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattctggtcaaccaggCggacgtgcacagtggcccgg	14	12	3	0	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000164024.4	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1158	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		GTCAACCAGGCGGACGTGCAC	0.532																																						ENST00000544264.1																			0				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						c.(3472-3474)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							123	119	121					3																	48696595		2203	4300	6503	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.chr3:48696595C>T	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.3473G>A	3.37:g.48696595C>T	ENSP00000164024:p.Arg1158His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1158H	p.R1158H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3753	-			1158			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3473G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290134	0.10567	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51574	0.7;0.7	5.63	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.20445	0.575	0.32999	D	0.525948	B;B	0.23316	0.083;0.047	B;B	0.25987	0.065;0.012	T	0.33317	-0.9873	9	0.11794	T	0.64	.	6.7548	0.23507	0.0:0.7018:0.0:0.2982	.	1158;1228	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1158	ENSP00000164024:R1158H;ENSP00000445694:R1158H	ENSP00000164024:R1158H	R	-	2	0	CELSR3	48671599	0.988000	0.35896	0.997000	0.53966	0.894000	0.52154	2.409000	0.44583	1.389000	0.46526	0.561000	0.74099	CGC		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		83	432	0	0	0	1	0	83	432					T	48696595	C	T	48696595	3	4	79	1	0	0	0	0	1	0	0	0	3232	768	27	1	6605	1	CELSR3	3	48696595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14124	48696595	149325835	4082	14399											
CELSR3	1951	broad.mit.edu	37	chr3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctccccatggtctgcatCgactgcctgaatgtggatga	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000164024.4	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	677	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		TGGTCTGCATCGACTGCCTGA	0.498																																						ENST00000544264.1																			0				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						c.(2029-2031)Gat>Aat		cadherin, EGF LAG seven-pass G-type receptor 3							74	69	71					3																	48698039		2203	4300	6503	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.chr3:48698039C>T	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.2029G>A	3.37:g.48698039C>T	ENSP00000164024:p.Asp677Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D677N	p.D677N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2309	-			677			Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2029G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317535	0.81469	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73152	-0.72;-0.72	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92067	0.7486	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95019	0.8159	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	677;747	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	677	ENSP00000164024:D677N;ENSP00000445694:D677N	ENSP00000164024:D677N	D	-	1	0	CELSR3	48673043	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GAT		0.498	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		57	219	0	0	0	1	0	57	219					T	48698039	C	T	48698039	3	4	79	1	0	0	0	0	1	0	0	0	3232	884	31	1	8049	1	CELSR3	3	48698039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1444	48698039	149324391	4083	14400											
CELSR3	1951	broad.mit.edu	37	chr3	48698703	48698703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgccgtcagtggcacgCagctgcaggatagggtagcc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000164024.4	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L455L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	455	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		CAGTGGCACGCAGCTGCAGGA	0.677																																						ENST00000544264.1																			0				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						c.(1363-1365)ctG>ctA		cadherin, EGF LAG seven-pass G-type receptor 3							29	27	28					3																	48698703		2202	4300	6502	SO:0001819	synonymous_variant	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.chr3:48698703C>T	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.1365G>A	3.37:g.48698703C>T						CELSR3_ENST00000164024.4_Silent_p.L455L	p.L455L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1645	-			455			Cadherin 2.		O75092	Silent	SNP	ENST00000164024.4	37	c.1365G>A	CCDS2775.1																																																																																				0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		58	163	0	0	0	1	0	58	163					T	48698703	C	T	48698703	2	4	79	1	0	0	0	0	0	0	0	1	3232	697	25	2		2	CELSR3	3	48698703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	664	48698703	149323727	4084	14401											
CELSR3	1951	broad.mit.edu	37	chr3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacagttccgccggggggCtgtcctttctgctccggatg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000164024.4	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	229					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)			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)		CGCCGGGGGGCTGTCCTTTCT	0.652																																						ENST00000544264.1																			0				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						c.(685-687)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 3							57	63	61					3																	48699383		2202	4299	6501	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.chr3:48699383C>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.685G>T	3.37:g.48699383C>A	ENSP00000164024:p.Ala229Ser					CELSR3_ENST00000164024.4_Missense_Mutation_p.A229S	p.A229S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	965	-			229					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.685G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339064	0.01287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.43	4.06	-1.23	0.09465	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	9	0.18710	T	0.47	.	2.846	0.05543	0.1907:0.5242:0.1239:0.1611	.	229;299	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	229	ENSP00000164024:A229S;ENSP00000445694:A229S	ENSP00000164024:A229S	A	-	1	0	CELSR3	48674387	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.520000	0.06252	-0.245000	0.09625	0.609000	0.83330	GCC		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		25	697	1	0	2.50493e-22	1	2.83324e-22	25	697					A	48699383	C	A	48699383	3	1	79	1	0	0	0	0	1	0	0	0	3232	797	28	3	9393	3	CELSR3	3	48699383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680	48699383	149323047	4085	14402											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataccatttggtaataggCcaccaaggccaggacagact	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	446	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1336-1338)Gcc>Acc		NCK interacting protein with SH3 domain							154	134	141					3																	48717248		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717248C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1336G>A	3.37:g.48717248C>T	ENSP00000294129:p.Ala446Thr					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T	p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1455	-			446			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1336G>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659780|2.659780	0.47572|0.47572	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.64803|.	0.9;-0.12;-0.12|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.287923|.	0.28706|.	U|.	0.014408|.	T|T	0.70150|0.70150	0.3191|0.3191	L|L	0.51422|0.51422	1.61|1.61	0.39345|0.39345	D|D	0.965654|0.965654	P;P|.	0.38767|.	0.514;0.646|.	B;B|.	0.36608|.	0.115;0.229|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.14656|.	T|.	0.56|.	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;439|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	T|D	446;439;446|181	ENSP00000342621:A446T;ENSP00000389059:A439T;ENSP00000294129:A446T|.	ENSP00000294129:A446T|.	A|G	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48692252|48692252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.733000|3.733000	0.55029|0.55029	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.517	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		83	291	0	0	0	1	0	83	291					T	48717248	C	T	48717248	3	4	79	1	0	0	0	0	1	0	0	0	10267	739	26	2	860	2	NCKIPSD	3	48717248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17865	48717248	149305182	4086	14403											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717612	48717612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaagatcacctccagCctctgctggtcgtggcagac	10	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	381					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1141-1143)agG>agA		NCK interacting protein with SH3 domain							46	41	43					3																	48717612		2203	4300	6503	SO:0001819	synonymous_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717612C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1143G>A	3.37:g.48717612C>T						NCKIPSD_ENST00000341520.4_Silent_p.R381R|NCKIPSD_ENST00000416649.2_Silent_p.R374R	p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	6	1262	-			381					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	c.1143G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810200	0.16537	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.88	-1.47	0.08772	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	7.2578	0.26187	0.0:0.3798:0.117:0.5032	.	.	.	.	T	117	.	.	A	-	1	0	NCKIPSD	48692616	0.171000	0.23029	0.997000	0.53966	0.907000	0.53573	-0.391000	0.07323	-0.118000	0.11851	-0.244000	0.11960	GCT		0.622	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		49	166	0	0	0	1	0	49	166					T	48717612	C	T	48717612	2	4	79	1	0	0	0	0	0	0	0	1	10267	738	26	2		2	NCKIPSD	3	48717612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364	48717612	149304818	4087	14404											
P4HTM	54681	broad.mit.edu	37	chr3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttcgatatggtgaggGgggccactaccatgcccacg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000383729.4	+	6	1336	c.965G>A	c.(964-966)gGg>gAg	p.G322E	P4HTM_ENST00000343546.4_Missense_Mutation_p.G322E|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	322	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(964-966)gGg>gAg		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						103	86	92					3																	49042371		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042371G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.965G>A	3.37:g.49042371G>A	ENSP00000373235:p.Gly322Glu					P4HTM_ENST00000383729.4_Missense_Mutation_p.G322E	p.G322E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1333	+			322			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.965G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606911	0.87157	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.69175	-0.38	5.29	4.41	0.53225	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.103605	0.64402	D	0.000003	D	0.83922	0.5359	M	0.90595	3.13	0.51482	D	0.999927	D;D	0.64830	0.966;0.994	P;D	0.67900	0.875;0.954	D	0.87471	0.2414	10	0.66056	D	0.02	-3.3372	15.3609	0.74472	0.0:0.0:0.8593:0.1406	.	322;322	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	322	ENSP00000373235:G322E	ENSP00000341422:G322E	G	+	2	0	P4HTM	49017375	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	1.231000	0.43661	0.650000	0.86243	GGG		0.622	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		77	345	0	0	0	1	0	77	345					A	49042371	G	A	49042371	3	1	79	1	0	0	0	0	1	0	0	0	11402	1232	43	2	987	2	P4HTM	3	49042371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324759	49042371	148980059	4088	14405											
P4HTM	54681	broad.mit.edu	37	chr3	49042591	49042591	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggggccaggagatcaCtgggttatcccggttagtga	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042591C>T	ENST00000383729.4	+	6	1444				P4HTM_ENST00000343546.4_Silent_p.H395H|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAGGAGATCACTGGGTTATCC	0.587																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1183-1185)caC>caT		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						43	40	41					3																	49042591		2203	4300	6503	SO:0001627	intron_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042591C>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1073+112C>T	3.37:g.49042591C>T						P4HTM_ENST00000383729.4_Intron	p.H395H	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1553	+			324			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.1185C>T	CCDS43089.1																																																																																				0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	214	0	0	0	1	0	5	214					T	49042591	C	T	49042591	1	4	79	0	1	0	0	0	0	0	0	0	11402	564	20	2		2	P4HTM	3	49042591	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	49042591	148979839	4089	14406											
WDR6	11180	broad.mit.edu	37	chr3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggaaatatagccttgGccctgggccacaactcagtg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000608424.1	+	2	433	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	132					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(484-486)Gcc>Tcc		WD repeat domain 6							70	68	69					3																	49049361		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049361G>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.394G>T	3.37:g.49049361G>T	ENSP00000477389:p.Ala132Ser					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S	p.A162S	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	764	+			132					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.484G>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.621042	0.46736	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.77098	-0.06;-0.06;-1.07	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.055894	0.64402	D	0.000001	T	0.74543	0.3730	L	0.28115	0.83	0.37951	D	0.932645	D;P	0.53312	0.959;0.826	P;B	0.50109	0.631;0.341	T	0.75007	-0.3469	10	0.28530	T	0.3	-21.9638	18.0143	0.89233	0.0:0.0:1.0:0.0	.	132;81	Q9NNW5;E9PDU5	WDR6_HUMAN;.	S	162;164;132;81	ENSP00000378857:A162S;ENSP00000387692:A164S;ENSP00000413432:A81S	ENSP00000346247:A132S	A	+	1	0	WDR6	49024365	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	6.145000	0.71769	2.548000	0.85928	0.561000	0.74099	GCC		0.582	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			61	275	1	0	7.50695e-29	1	8.75429e-29	61	275					T	49049361	G	T	49049361	3	4	79	1	0	0	0	0	1	0	0	0	17364	1203	42	3	490	3	WDR6	3	49049361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6770	49049361	148973069	4090	14407											
WDR6	11180	broad.mit.edu	37	chr3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccttggcccccttgtgGctgcagcctgtagtgatggg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000608424.1	+	3	2677	c.2638G>A	c.(2638-2640)Gct>Act	p.A880T	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T|WDR6_ENST00000395474.3_Missense_Mutation_p.A910T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	880					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCCTTGTGGCTGCAGCCTG	0.587											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2728-2730)Gct>Act		WD repeat domain 6							57	56	57					3																	49051698		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051698G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2638G>A	3.37:g.49051698G>A	ENSP00000477389:p.Ala880Thr		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T	p.A910T	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	3008	+			880					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2728G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.657365	0.96724	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.74737	2.43;-0.87;-0.87	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050208	0.85682	D	0.000000	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.984;0.995	T	0.79794	-0.1653	10	0.25106	T	0.35	-16.8242	18.5456	0.91045	0.0:0.0:1.0:0.0	.	328;880;829	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	910;328;829	ENSP00000378857:A910T;ENSP00000412195:A328T;ENSP00000413432:A829T	ENSP00000378857:A910T	A	+	1	0	WDR6	49026702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.626000	0.88956	0.555000	0.69702	GCT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			12	315	0	0	0	1	0	12	315					A	49051698	G	A	49051698	3	1	79	1	0	0	0	0	1	0	0	0	17364	1203	42	2	2738	2	WDR6	3	49051698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2337	49051698	148970732	4091	14408											
WDR6	11180	broad.mit.edu	37	chr3	49051889	49051889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccataagcgatgtgtcCtcaaggtccactcctttaca	6	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051889C>A	ENST00000608424.1	+	4	2779	c.2740C>A	c.(2740-2742)Ctc>Atc	p.L914I	WDR6_ENST00000415265.2_Missense_Mutation_p.L362I|WDR6_ENST00000448293.1_Missense_Mutation_p.L863I|WDR6_ENST00000395474.3_Missense_Mutation_p.L944I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	914					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCGATGTGTCCTCAAGGTCCA	0.602											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2830-2832)Ctc>Atc		WD repeat domain 6							101	97	98					3																	49051889		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051889C>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2740C>A	3.37:g.49051889C>A	ENSP00000477389:p.Leu914Ile		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Missense_Mutation_p.L362I|WDR6_ENST00000448293.1_Missense_Mutation_p.L863I	p.L944I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	4	3110	+			914					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2830C>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011955	0.93346	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.71222	2.75;-0.55;-0.55	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.70275	2.135	0.52501	D	0.999958	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.988;0.991;0.984	D	0.84616	0.0681	10	0.59425	D	0.04	-18.1999	16.5251	0.84328	0.0:1.0:0.0:0.0	.	362;914;863	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	944;362;863	ENSP00000378857:L944I;ENSP00000412195:L362I;ENSP00000413432:L863I	ENSP00000378857:L944I	L	+	1	0	WDR6	49026893	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.719000	0.61937	2.402000	0.81655	0.455000	0.32223	CTC		0.602	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			12	636	1	0	7.03913e-09	1	7.37812e-09	12	636					A	49051889	C	A	49051889	3	1	79	1	0	0	0	0	1	0	0	0	17364	681	24	3	2844	3	WDR6	3	49051889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191	49051889	148970541	4092	14409											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctccctgcacaggtgGgatcccaccaggacatcacc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	DALRD3_ENST00000496568.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	92					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(274-276)Gga>Aga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							170	169	169					3																	49060138		2203	4300	6503	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060138G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.274G>A	3.37:g.49060138G>A	ENSP00000323076:p.Gly92Arg					NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R	p.G92R	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			3	1408	+			92						Missense_Mutation	SNP	ENST00000326925.6	37	c.274G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876088	0.91664	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	D	0.63597	0.916	T	0.76069	-0.3094	10	0.15952	T	0.53	-13.5357	18.9288	0.92556	0.0:0.0:1.0:0.0	.	92	Q9BU61	NDUF3_HUMAN	R	35;92;35;35	ENSP00000323003:G35R;ENSP00000323076:G92R;ENSP00000378843:G35R;ENSP00000402465:G35R	ENSP00000323003:G35R	G	+	1	0	NDUFAF3	49035142	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.230000	0.95299	2.567000	0.86603	0.591000	0.81541	GGA		0.562	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		88	1094	0	0	0	1	0	88	1094					A	49060138	G	A	49060138	3	1	79	1	0	0	0	0	1	0	0	0	10318	1233	43	2	284	2	NDUFAF3	3	49060138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8249	49060138	148962292	4093	14410											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060385	49060385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccatgaggcagcggggCattgctgtggaagtgcagga	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	DALRD3_ENST00000496568.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Silent_p.G81G|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	138					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(412-414)ggC>ggT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							77	84	81					3																	49060385		2203	4300	6503	SO:0001819	synonymous_variant	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060385C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.414C>T	3.37:g.49060385C>T						NDUFAF3_ENST00000451378.2_Silent_p.G81G|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000326912.4_Silent_p.G81G	p.G138G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			4	1548	+			138						Silent	SNP	ENST00000326925.6	37	c.414C>T	CCDS2784.1																																																																																				0.637	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		47	528	0	0	0	1	0	47	528					T	49060385	C	T	49060385	2	4	79	1	0	0	0	0	0	0	0	1	10318	697	25	2		2	NDUFAF3	3	49060385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	49060385	148962045	4094	14411											
IMPDH2	25915	broad.mit.edu	37	chr3	49062389	49062389	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgagagaacccataccgCgatatttctttagccggatc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49062389C>T	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R412H	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						ACCCATACCGCGATATTTCTT	0.547																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1234-1236)cGc>cAc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						78	75	76					3																	49062389		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062389C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062389C>T							p.R412H	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1274	-			412			IMP binding (By similarity).			Missense_Mutation	SNP	ENST00000326925.6	37	c.1235G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040572	0.93630	.	.	ENSG00000178035	ENST00000326739	D	0.81499	-1.5	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.95832	0.8859	10	0.87932	D	0	-11.5071	19.0076	0.92857	0.0:1.0:0.0:0.0	.	412	P12268	IMDH2_HUMAN	H	412	ENSP00000321584:R412H	ENSP00000321584:R412H	R	-	2	0	IMPDH2	49037393	1.000000	0.71417	0.680000	0.29994	0.989000	0.77384	7.369000	0.79578	2.489000	0.83994	0.655000	0.94253	CGC		0.547	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		10	375	0	0	0	1	0	10	375					T	49062389	C	T	49062389	1	4	79	0	1	0	0	0	0	0	0	0	7757	768	27	1		1	IMPDH2	3	49062389	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2004	49062389	148960041	4095	14412											
IMPDH2	54870	broad.mit.edu	37	chr3	49065268	49065268	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataccgcagaaaccatgccGggccttggcctcaaaaacat	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49065268G>A	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R136W	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAACCATGCCGGGCCTTGGCC	0.547																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(406-408)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						64	62	63					3																	49065268		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065268G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065268G>A							p.R136W	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	445	-			136			CBS 1.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.406C>T	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.441663|3.441663	0.63067|0.63067	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.94046	.|-3.34;-3.34	5.83|5.83	3.8|3.8	0.43715|0.43715	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	.|0.051772	.|0.85682	.|D	.|0.000000	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.62382	.|0.901	D|D	0.98283|0.98283	1.0509|1.0509	5|10	.|0.87932	.|D	.|0	-10.5572|-10.5572	16.1773|16.1773	0.81862|0.81862	0.0:0.0:0.7394:0.2606|0.0:0.0:0.7394:0.2606	.|.	.|136	.|P12268	.|IMDH2_HUMAN	L|W	67|136;136;111	.|ENSP00000321584:R136W;ENSP00000403502:R111W	.|ENSP00000321584:R136W	P|R	-|-	2|1	0|2	IMPDH2|IMPDH2	49040272|49040272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.209000|3.209000	0.51122|0.51122	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.547	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		60	228	0	0	0	1	0	60	228					A	49065268	G	A	49065268	1	1	79	0	1	0	0	0	0	0	0	0	7757	1115	39	1		1	IMPDH2	3	49065268	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	49065268	148957162	4096	14413											
QRICH1	54870	broad.mit.edu	37	chr3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaatcgcagcagttggCgccctgcaacggaagcctca	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	507						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAGTTGGCGCCCTGCAAC	0.512																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1519-1521)cGc>cAc		glutamine-rich 1							64	57	59					3																	49084009		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49084009C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1520G>A	3.37:g.49084009C>T	ENSP00000378830:p.Arg507His					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H	p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	1992	-			507					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1520G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518919	0.96416	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78607	-0.2138	9	0.66056	D	0.02	-2.5307	20.1663	0.98152	0.0:1.0:0.0:0.0	.	507	Q2TAL8	QRIC1_HUMAN	H	507	.	ENSP00000350094:R507H	R	-	2	0	QRICH1	49059013	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.209000	0.77916	2.773000	0.95371	0.585000	0.79938	CGC		0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		50	254	0	0	0	1	0	50	254					T	49084009	C	T	49084009	3	4	79	1	0	0	0	0	1	0	0	0	12929	768	27	1	834	1	QRICH1	3	49084009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18741	49084009	148938421	4097	14414											
QRICH1	54870	broad.mit.edu	37	chr3	49094859	49094859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctgccctgagatggcGtaggacacagtgatgggcat	15	10	0	2	rs200111153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	258	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGAGATGGCGTAGGACACAG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19888	0.0		0.0	False		,,,				2504	0.0					ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(772-774)taC>taT		glutamine-rich 1							57	55	56					3																	49094859		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094859G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.774C>T	3.37:g.49094859G>A						QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.Y258Y|QRICH1_ENST00000357496.2_Silent_p.Y258Y	p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1246	-			258			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.774C>T	CCDS2787.1																																																																																				0.612	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		70	370	0	0	0	1	0	70	370					A	49094859	G	A	49094859	2	1	79	1	0	0	0	0	0	0	0	1	12929	1140	40	1		1	QRICH1	3	49094859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10850	49094859	148927571	4098	14415											
USP19	10869	broad.mit.edu	37	chr3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgtcatcaaacaagCgccagcctacagcagggtgg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000398888.2	-	25	3875	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000453664.1_Missense_Mutation_p.R1277H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1186	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3829-3831)cGc>cAc		ubiquitin specific peptidase 19							53	59	57					3																	49147789		2165	4262	6427	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49147789C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3557G>A	3.37:g.49147789C>T	ENSP00000381863:p.Arg1186His					USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000398888.2_Missense_Mutation_p.R1186H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H	p.R1277H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4148	-			1186					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3830G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238243	0.79800	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046862	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25485	0.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.955	T	0.33574	-0.9863	10	0.45353	T	0.12	-17.718	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1287;1277;1186;1226;994	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	994;1226;1289;1277;1226;1186;1287	ENSP00000381870:R994H;ENSP00000381872:R1226H;ENSP00000395260:R1289H;ENSP00000400090:R1277H;ENSP00000381867:R1226H;ENSP00000381863:R1186H;ENSP00000401197:R1287H	ENSP00000381863:R1186H	R	-	2	0	USP19	49122793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC		0.577	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		55	265	0	0	0	1	0	55	265					T	49147789	C	T	49147789	3	4	79	1	0	0	0	0	1	0	0	0	17104	768	27	1	407	1	USP19	3	49147789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52930	49147789	148874641	4099	14416											
USP19	10869	broad.mit.edu	37	chr3	49152269	49152269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgatgaaagagtcattcCtcatcttgtgccgctgccat	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49152269C>T	ENST00000398888.2	-	14	2228	c.1910G>A	c.(1909-1911)aGg>aAg	p.R637K	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000453664.1_Missense_Mutation_p.R728K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	637	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGTCATTCCTCATCTTGTG	0.557																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2182-2184)aGg>aAg		ubiquitin specific peptidase 19							89	89	89					3																	49152269		2138	4248	6386	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152269C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1910G>A	3.37:g.49152269C>T	ENSP00000381863:p.Arg637Lys					USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000398888.2_Missense_Mutation_p.R637K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K	p.R728K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	2501	-			637					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2183G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013981	0.97200	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.81942	2.565	0.80722	D	1	D;D;D;P;D	0.61697	0.99;0.99;0.978;0.927;0.978	D;D;D;D;D	0.75484	0.986;0.986;0.978;0.953;0.978	T	0.63963	-0.6518	10	0.87932	D	0	-22.8041	20.0726	0.97729	0.0:1.0:0.0:0.0	.	738;728;637;677;445	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	445;677;740;728;677;637;738	ENSP00000381870:R445K;ENSP00000381872:R677K;ENSP00000395260:R740K;ENSP00000400090:R728K;ENSP00000381867:R677K;ENSP00000381863:R637K;ENSP00000401197:R738K	ENSP00000381863:R637K	R	-	2	0	USP19	49127273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.751000	0.85126	2.738000	0.93877	0.655000	0.94253	AGG		0.557	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		10	303	0	0	0	1	0	10	303					T	49152269	C	T	49152269	3	4	79	1	0	0	0	0	1	0	0	0	17104	681	24	2	2098	2	USP19	3	49152269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	49152269	148870161	4100	14417											
USP19	10869	broad.mit.edu	37	chr3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggaaggtggtgtggggcCcacagcccgggtgcagcctc	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000398888.2	-	8	1334	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000453664.1_Missense_Mutation_p.G430E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	339	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1288-1290)gGg>gAg		ubiquitin specific peptidase 19							40	45	44					3																	49153749		2003	4166	6169	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153749C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1016G>A	3.37:g.49153749C>T	ENSP00000381863:p.Gly339Glu					USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000398888.2_Missense_Mutation_p.G339E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E	p.G430E	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1607	-			339					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1289G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885364	0.72410	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.098181	0.64402	D	0.000001	T	0.33789	0.0875	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998;0.981	T	0.00312	-1.1826	10	0.56958	D	0.05	-32.7097	15.6958	0.77494	0.0:0.8637:0.1363:0.0	.	503;440;430;339;377;425;145	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	E	145;377;440;430;377;339;440;425;425	ENSP00000381870:G145E;ENSP00000381872:G377E;ENSP00000395260:G440E;ENSP00000400090:G430E;ENSP00000381867:G377E;ENSP00000381863:G339E;ENSP00000401197:G440E;ENSP00000303503:G425E	ENSP00000303503:G425E	G	-	2	0	USP19	49128753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG		0.627	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		50	226	0	0	0	1	0	50	226					T	49153749	C	T	49153749	3	4	79	1	0	0	0	0	1	0	0	0	17104	623	22	2	3016	2	USP19	3	49153749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1480	49153749	148868681	4101	14418											
USP19	10869	broad.mit.edu	37	chr3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctttcccagggtttctgCtccggaccatggctggagag	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000398888.2	-	6	1067	c.749G>T	c.(748-750)aGc>aTc	p.S250I	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000453664.1_Missense_Mutation_p.S341I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	250					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGTTTCTGCTCCGGACCAT	0.587																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1021-1023)aGc>aTc		ubiquitin specific peptidase 19							56	61	59					3																	49154234		2033	4180	6213	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154234C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.749G>T	3.37:g.49154234C>A	ENSP00000381863:p.Ser250Ile					USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000398888.2_Missense_Mutation_p.S250I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I	p.S341I	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1340	-			250			CS 2.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1022G>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290237	0.05568	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.32515	2.11;2.1;2.2;2.19;2.1;2.18;2.2;1.45	5.72	0.438	0.16560	Domain of unknown function DUF1872 (1);	1.260270	0.04631	N	0.403623	T	0.15782	0.0380	N	0.08118	0	0.20821	N	0.999842	B;B;B;B;B;B;B	0.28584	0.045;0.035;0.045;0.178;0.002;0.216;0.003	B;B;B;B;B;B;B	0.26969	0.075;0.055;0.075;0.037;0.008;0.072;0.005	T	0.21245	-1.0251	10	0.48119	T	0.1	-0.357	4.0236	0.09677	0.2608:0.4967:0.0:0.2425	.	414;351;341;250;288;336;56	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	I	56;288;351;341;288;250;351;336;336;98	ENSP00000381870:S56I;ENSP00000381872:S288I;ENSP00000395260:S351I;ENSP00000400090:S341I;ENSP00000381867:S288I;ENSP00000381863:S250I;ENSP00000401197:S351I;ENSP00000303503:S336I	ENSP00000303503:S336I	S	-	2	0	USP19	49129238	0.040000	0.19996	0.108000	0.21378	0.006000	0.05464	-0.227000	0.09126	-0.136000	0.11475	-0.145000	0.13849	AGC		0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		14	250	1	0	0.000219431	1	0.000222766	14	250					A	49154234	C	A	49154234	3	1	79	1	0	0	0	0	1	0	0	0	17104	797	28	3	3291	3	USP19	3	49154234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485	49154234	148868196	4102	14419											
LAMB2	3913	broad.mit.edu	37	chr3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggactcgctctgcaatcGcacccgccaggtgctggatc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398898.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1558	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTGCAATCGCACCCGCCAG	0.607																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4672-4674)gCg>gTg		laminin, beta 2 (laminin S)							59	57	58					3																	49159704		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159704G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4673C>T	3.37:g.49159704G>A	ENSP00000388325:p.Ala1558Val					LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V	p.A1558V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4837	-			1558			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4673C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358164	0.41801	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34859	1.34;1.34	5.27	-5.68	0.02436	.	0.294380	0.35525	N	0.003158	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.21151	0.033	T	0.03545	-1.1026	10	0.66056	D	0.02	.	21.1267	0.99946	0.0:0.0:0.1172:0.8828	.	1558	P55268	LAMB2_HUMAN	V	1558;1558;325	ENSP00000388325:A1558V;ENSP00000307156:A1558V	ENSP00000307156:A1558V	A	-	2	0	LAMB2	49134708	0.637000	0.27216	0.000000	0.03702	0.679000	0.39708	1.191000	0.32138	-0.833000	0.04245	0.650000	0.86243	GCG		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		73	290	0	0	0	1	0	73	290					A	49159704	G	A	49159704	3	1	79	1	0	0	0	0	1	0	0	0	8642	1087	38	1	743	1	LAMB2	3	49159704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	49159704	148862726	4103	14420											
LAMB2	3913	broad.mit.edu	37	chr3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggacagggacagggcCggcactggcccccatatggc	14	14	1	0	rs536235346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	925	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACAGGGCCGGCACTGGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18742	0.001		0.0	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2773-2775)cGg>cAg		laminin, beta 2 (laminin S)							37	37	37					3																	49162549		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162549C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2774G>A	3.37:g.49162549C>T	ENSP00000388325:p.Arg925Gln					LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	p.R925Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	2938	-			925			Laminin EGF-like 8.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2774G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147415	0.94603	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62788	0.0;0.0	5.98	5.98	0.97165	EGF-like, laminin (2);	0.058682	0.64402	D	0.000002	T	0.70570	0.3239	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.65236	-0.6217	10	0.31617	T	0.26	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	925	P55268	LAMB2_HUMAN	Q	925	ENSP00000388325:R925Q;ENSP00000307156:R925Q	ENSP00000307156:R925Q	R	-	2	0	LAMB2	49137553	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.031000	0.57267	2.847000	0.97988	0.591000	0.81541	CGG		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		67	272	0	0	0	1	0	67	272					T	49162549	C	T	49162549	3	4	79	1	0	0	0	0	1	0	0	0	8642	652	23	1	2674	1	LAMB2	3	49162549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2845	49162549	148859881	4104	14421											
LAMB2	3913	broad.mit.edu	37	chr3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagtcgcaccaggcagCggtcacatccacgtccagtc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	504	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGGCAGCGGTCACATCC	0.572																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1510-1512)cGc>cAc		laminin, beta 2 (laminin S)							96	90	92					3																	49167044		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167044C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1511G>A	3.37:g.49167044C>T	ENSP00000388325:p.Arg504His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1675	-			504			Laminin EGF-like 4.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1511G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045624	0.36085	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	5.3	-3.26	0.05064	EGF-like, laminin (4);	0.497453	0.21653	N	0.071147	T	0.52419	0.1733	M	0.65975	2.015	0.36992	D	0.894853	B	0.11235	0.004	B	0.06405	0.002	T	0.30090	-0.9990	10	0.51188	T	0.08	.	8.3145	0.32091	0.1225:0.1971:0.0:0.6805	.	504	P55268	LAMB2_HUMAN	H	504	ENSP00000388325:R504H;ENSP00000307156:R504H	ENSP00000307156:R504H	R	-	2	0	LAMB2	49142048	0.889000	0.30405	0.449000	0.26957	0.681000	0.39784	0.853000	0.27777	-0.824000	0.04295	-0.345000	0.07892	CGC		0.572	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		39	180	0	0	0	1	0	39	180					T	49167044	C	T	49167044	3	4	79	1	0	0	0	0	1	0	0	0	8642	768	27	1	3973	1	LAMB2	3	49167044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4495	49167044	148855386	4105	14422											
LAMB2	3913	broad.mit.edu	37	chr3	49168875	49168875	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcacacgatagatgaCctggagaagcagggagttca	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	217	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATAGATGACCTGGAGAAGC	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.e7-1		laminin, beta 2 (laminin S)							123	116	118					3																	49168875		2203	4300	6503	SO:0001630	splice_region_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168875C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.649-1G>A	3.37:g.49168875C>T						LAMB2_ENST00000305544.4_Splice_Site_p.V217_splice	p.V217_splice	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	813	-			217			Laminin N-terminal.		Q16321	Splice_Site	SNP	ENST00000418109.1	37	c.648_splice	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.326127	0.81580	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76709	-1.04;-1.04;-1.04	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.066361	0.64402	D	0.000017	D	0.82618	0.5076	L	0.49640	1.575	0.58432	D	0.999998	D	0.59357	0.985	P	0.60345	0.873	T	0.79065	-0.1956	10	0.23302	T	0.38	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	217	P55268	LAMB2_HUMAN	I	217;217;68	ENSP00000388325:V217I;ENSP00000307156:V217I;ENSP00000444751:V68I	ENSP00000307156:V217I	V	-	1	0	LAMB2	49143879	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.858000	0.69532	2.541000	0.85698	0.651000	0.88453	GTC		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	Missense_Mutation	21	537	0	0	0	1	0	21	537					T	49168875	C	T	49168875	5	4	79	1	0	0	0	0	0	0	1	0	8642	521	18	2	4855	2	LAMB2	3	49168875	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1831	49168875	148853555	4106	14423											
LAMB2	3913	broad.mit.edu	37	chr3	49168980	49168980	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcacctcgccttcagtGgatggctcaatctctgagta	9	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	212	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCCTTCAGTGGATGGCTCAA	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(634-636)tcC>tcA		laminin, beta 2 (laminin S)							148	153	151					3																	49168980		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168980G>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.636C>A	3.37:g.49168980G>T						LAMB2_ENST00000305544.4_Silent_p.S212S	p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	800	-			212			Laminin N-terminal.		Q16321	Silent	SNP	ENST00000418109.1	37	c.636C>A	CCDS2789.1																																																																																				0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		204	1033	1	0	5.21138e-58	1	6.5303e-58	204	1033					T	49168980	G	T	49168980	2	4	79	1	0	0	0	0	0	0	0	1	8642	1335	47	3		3	LAMB2	3	49168980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	49168980	148853450	4107	14424											
CCDC36	339834	broad.mit.edu	37	chr3	49293689	49293689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgaatgtgcccagtgtCctagcagagctgaagagatt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	253										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCCAGTGTCCTAGCAGAGC	0.532																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(757-759)gtC>gtT		coiled-coil domain containing 36							84	80	81					3																	49293689		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49293689C>T	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.759C>T	3.37:g.49293689C>T						CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V	p.V253V			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	995	+			253					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.759C>T	CCDS33755.2																																																																																				0.532	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		103	334	0	0	0	1	0	103	334					T	49293689	C	T	49293689	2	4	79	1	0	0	0	0	0	0	0	1	2815	842	30	2		2	CCDC36	3	49293689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124709	49293689	148728741	4108	14425											
USP4	7375	broad.mit.edu	37	chr3	49332010	49332010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacattccgagccatccacGgaagtgctgcagacctcgta	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000265560.4	-	14	1759	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	USP4_ENST00000351842.4_Silent_p.S524S	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	571	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1570-1572)tcC>tcT		ubiquitin specific peptidase 4 (proto-oncogene)							102	83	89					3																	49332010		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49332010G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1713C>T	3.37:g.49332010G>A						USP4_ENST00000265560.4_Silent_p.S571S	p.S524S	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	13	1580	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	571					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.1572C>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575995	0.03882	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.41	-2.14	0.07123	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-8.4843	1.608	0.02687	0.4586:0.119:0.2537:0.1686	.	.	.	.	C	310	.	.	R	-	1	0	USP4	49307014	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.785000	0.04628	-0.258000	0.09446	0.650000	0.86243	CGT		0.537	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		54	228	0	0	0	1	0	54	228					A	49332010	G	A	49332010	2	1	79	1	0	0	0	0	0	0	0	1	17125	1103	39	1		1	USP4	3	49332010	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38321	49332010	148690420	4109	14426											
USP4	7375	broad.mit.edu	37	chr3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggaaagtatccacaAtcacagaatcattcctcaac	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000265560.4	-	11	1386	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Missense_Mutation_p.I400T	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	447	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1198-1200)aTt>aCt		ubiquitin specific peptidase 4 (proto-oncogene)							98	80	87					3																	49338072		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49338072A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1340T>C	3.37:g.49338072A>G	ENSP00000265560:p.Ile447Thr					USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.I447T	p.I400T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	10	1207	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	447					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1199T>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690655	0.88735	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.38240	1.15;1.15	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77496	-0.2566	10	0.87932	D	0	-19.8798	15.2045	0.73169	1.0:0.0:0.0:0.0	.	400;447;447	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	T	400;447	ENSP00000341028:I400T;ENSP00000265560:I447T	ENSP00000265560:I447T	I	-	2	0	USP4	49313076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	2.261000	0.74972	0.459000	0.35465	ATT		0.468	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		55	214	0	0	0	1	0	55	214					G	49338072	A	G	49338072	3	3	79	1	0	0	0	0	1	0	0	0	17125	101	4	4	1599	4	USP4	3	49338072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6062	49338072	148684358	4110	14427											
USP4	7375	broad.mit.edu	37	chr3	49348051	49348051	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaagttctctcctctAcctgcaaagcggagttcatg	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000265560.4	-	8	1001		c.e8+1		USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000351842.4_Splice_Site	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e7+1		ubiquitin specific peptidase 4 (proto-oncogene)							169	152	157					3																	49348051		2203	4300	6503	SO:0001630	splice_region_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49348051A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.954+1T>C	3.37:g.49348051A>G						USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000265560.4_Splice_Site		NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	7	822	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)						A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Splice_Site	SNP	ENST00000265560.4	37		CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869437	0.51588	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3007	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP4	49323055	1.000000	0.71417	0.992000	0.48379	0.384000	0.30261	9.100000	0.94213	2.059000	0.61396	0.402000	0.26972	.		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	Intron	66	323	0	0	0	1	0	66	323					G	49348051	A	G	49348051	5	3	79	1	0	0	0	0	0	0	1	0	17125	405	14	4	1995	4	USP4	3	49348051	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9979	49348051	148674379	4111	14428											
GPX1	387	broad.mit.edu	37	chr3	49394894	49394894	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggtctggaagcggcggCtgtacctgcgtaggggcaca	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49394894C>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.S180N|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGCGGCGGCTGTACCTGCG	0.627																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(538-540)aGc>aAc		glutathione peroxidase 1	Glutathione(DB00143)						22	24	23					3																	49394894		1859	4053	5912	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49394894C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49394894C>T						GPX1_ENST00000419349.1_3'UTR	p.S180N	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	860	-			180					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.539G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972515	0.74246	.	.	ENSG00000233276	ENST00000419783	T	0.03982	3.74	5.4	5.4	0.78164	Thioredoxin-like fold (2);	0.046319	0.85682	D	0.000000	T	0.11750	0.0286	M	0.75085	2.285	0.80722	D	1	P	0.43352	0.804	B	0.43950	0.437	T	0.05801	-1.0863	10	0.30078	T	0.28	.	17.761	0.88464	0.0:1.0:0.0:0.0	.	180	P07203	GPX1_HUMAN	N	180	ENSP00000407375:S180N	ENSP00000407375:S180N	S	-	2	0	GPX1	49369898	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.792000	0.85828	2.532000	0.85374	0.561000	0.74099	AGC		0.627	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		7	278	0	0	0	1	0	7	278					T	49394894	C	T	49394894	1	4	79	0	1	0	0	0	0	0	0	0	6769	797	28	2		2	GPX1	3	49394894	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46843	49394894	148627536	4112	14429											
NICN1	84276	broad.mit.edu	37	chr3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtactgacggacacggatgCtcaaaaaagctgtgtagtaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR|NICN1-AS1_ENST00000424915.1_RNA	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	59						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517																																						ENST00000273598.3																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(175-177)aGc>aTc		nicolin 1							91	78	82					3																	49463818		2203	4300	6503	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49463818C>A	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.176G>T	3.37:g.49463818C>A	ENSP00000273598:p.Ser59Ile					NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I	p.S59I	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	262	-			59					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.176G>T	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114469	0.37339	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.08	2.15	0.27550	.	0.164124	0.51477	D	0.000081	T	0.23572	0.0570	L	0.38175	1.15	0.36469	D	0.867172	B;B	0.17038	0.02;0.02	B;B	0.23574	0.047;0.031	T	0.16958	-1.0385	10	0.72032	D	0.01	-33.9236	15.564	0.76273	0.0:0.3431:0.6568:0.0	.	59;59	B4DX77;Q9BSH3	.;NICN1_HUMAN	I	59	ENSP00000273598:S59I;ENSP00000402335:S59I	ENSP00000273598:S59I	S	-	2	0	NICN1	49438822	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.786000	0.38694	0.124000	0.18369	0.655000	0.94253	AGC		0.517	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		15	224	1	0	4.7546e-09	1	4.99022e-09	15	224					A	49463818	C	A	49463818	3	1	79	1	0	0	0	0	1	0	0	0	10455	797	28	3	485	3	NICN1	3	49463818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	49463818	148558612	4113	14430											
DAG1	1605	broad.mit.edu	37	chr3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatccggactcgaggcGccattattcaaaccccaacc	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000539901.1	+	3	1681	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACTCGAGGCGCCATTATTCA	0.592																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1123-1125)Gcc>Acc		dystroglycan 1 (dystrophin-associated glycoprotein 1)							99	104	102					3																	49569067		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569067G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1123G>A	3.37:g.49569067G>A	ENSP00000439334:p.Ala375Thr					DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000539901.1_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T	p.A375T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1845	+			375			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1123G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651398	0.67472	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	.	0.152399	0.64402	D	0.000014	T	0.34687	0.0906	L	0.29908	0.895	0.36969	D	0.893748	P	0.36909	0.573	B	0.26693	0.072	T	0.32241	-0.9914	9	.	.	.	-29.9484	18.6912	0.91583	0.0:0.0:1.0:0.0	.	375	Q14118	DAG1_HUMAN	T	375	ENSP00000440705:A375T;ENSP00000312435:A375T;ENSP00000442600:A375T;ENSP00000440590:A375T;ENSP00000439334:A375T;ENSP00000438421:A375T	.	A	+	1	0	DAG1	49544071	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.646000	0.46630	2.702000	0.92279	0.655000	0.94253	GCC		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			145	563	0	0	0	1	0	145	563					A	49569067	G	A	49569067	3	1	79	1	0	0	0	0	1	0	0	0	4236	1087	38	1	1129	1	DAG1	3	49569067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105249	49569067	148453363	4114	14431											
BSN	8927	broad.mit.edu	37	chr3	49680099	49680099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactgagcagacccaggaGggcctcactggtaagctctt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680099G>T	ENST00000296452.4	+	3	1146	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	344					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCCAGGAGGGCCTCACTG	0.672																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1030-1032)gaG>gaT		bassoon presynaptic cytomatrix protein							25	27	26					3																	49680099		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49680099G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1032G>T	3.37:g.49680099G>T	ENSP00000296452:p.Glu344Asp						p.E344D	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	3	1146	+			344					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1032G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057968	0.36277	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	4.35	1.48	0.22813	.	0.056300	0.64402	D	0.000002	T	0.14056	0.0340	L	0.32530	0.975	0.37156	D	0.902393	B	0.20780	0.048	B	0.19946	0.027	T	0.12400	-1.0549	10	0.33141	T	0.24	.	8.3358	0.32213	0.3227:0.0:0.6773:0.0	.	344	Q9UPA5	BSN_HUMAN	D	344	ENSP00000296452:E344D	ENSP00000296452:E344D	E	+	3	2	BSN	49655103	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.030000	0.30153	0.160000	0.19432	0.455000	0.32223	GAG		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	201	1	0	0.014758	1	0.0148251	5	201					T	49680099	G	T	49680099	3	4	79	1	0	0	0	0	1	0	0	0	1534	991	35	3	1042	3	BSN	3	49680099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111032	49680099	148342331	4115	14432											
BSN	8927	broad.mit.edu	37	chr3	49680444	49680444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaagccaaagaccatgccGaaggaaagggccatctgccc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	459					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCATGCCGAAGGAAAGGG	0.587																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1375-1377)ccG>ccA		bassoon presynaptic cytomatrix protein							62	53	56					3																	49680444		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49680444G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1377G>A	3.37:g.49680444G>A							p.P459P	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	3	1491	+			459					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.1377G>A	CCDS2800.1																																																																																				0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		27	177	0	0	0	1	0	27	177					A	49680444	G	A	49680444	2	1	79	1	0	0	0	0	0	0	0	1	1534	1045	37	1		1	BSN	3	49680444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	49680444	148341986	4116	14433											
BSN	8927	broad.mit.edu	37	chr3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagcagcagcgcatccGcagcacggcccgcaagaccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1068					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCGCATCCGCAGCACGGCC	0.647																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3202-3204)cGc>cAc		bassoon presynaptic cytomatrix protein							33	38	36					3																	49690192		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690192G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3203G>A	3.37:g.49690192G>A	ENSP00000296452:p.Arg1068His						p.R1068H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3317	+			1068					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3203G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536312	0.45176	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.66939	2.045	0.37678	D	0.923388	D	0.89917	1.0	D	0.68621	0.959	T	0.56613	-0.7950	10	0.66056	D	0.02	.	15.2326	0.73404	0.0:0.1407:0.8593:0.0	.	1068	Q9UPA5	BSN_HUMAN	H	1068	ENSP00000296452:R1068H	ENSP00000296452:R1068H	R	+	2	0	BSN	49665196	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.773000	0.75006	2.357000	0.79964	0.561000	0.74099	CGC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		55	245	0	0	0	1	0	55	245					A	49690192	G	A	49690192	3	1	79	1	0	0	0	0	1	0	0	0	1534	1087	38	1	3221	1	BSN	3	49690192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9748	49690192	148332238	4117	14434											
BSN	8927	broad.mit.edu	37	chr3	49690580	49690580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgcaaagctgagctGctccagaggcagcaaggcca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690580G>A	ENST00000296452.4	+	5	3705	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1197					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCTGAGCTGCTCCAGAGGC	0.672																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3589-3591)ctG>ctA		bassoon presynaptic cytomatrix protein							19	20	20					3																	49690580		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690580G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3591G>A	3.37:g.49690580G>A							p.L1197L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3705	+			1197					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3591G>A	CCDS2800.1																																																																																				0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		7	202	0	0	0	1	0	7	202					A	49690580	G	A	49690580	2	1	79	1	0	0	0	0	0	0	0	1	1534	1306	46	2		2	BSN	3	49690580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	49690580	148331850	4118	14435											
BSN	8927	broad.mit.edu	37	chr3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcacctctcttgctgtgGaagcgaggaagtatggtctt	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1692					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGCTGTGGAAGCGAGGAA	0.587																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(5074-5076)Gaa>Aaa		bassoon presynaptic cytomatrix protein							103	96	98					3																	49692063		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692063G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5074G>A	3.37:g.49692063G>A	ENSP00000296452:p.Glu1692Lys						p.E1692K	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5188	+			1692					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5074G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602687	0.66445	.	.	ENSG00000164061	ENST00000296452	T	0.24350	1.86	5.16	5.16	0.70880	.	0.051936	0.85682	D	0.000000	T	0.49355	0.1552	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.47812	-0.9088	10	0.54805	T	0.06	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	1692	Q9UPA5	BSN_HUMAN	K	1692	ENSP00000296452:E1692K	ENSP00000296452:E1692K	E	+	1	0	BSN	49667067	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.420000	0.82092	0.561000	0.74099	GAA		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		97	349	0	0	0	1	0	97	349					A	49692063	G	A	49692063	3	1	79	1	0	0	0	0	1	0	0	0	1534	1175	41	2	5092	2	BSN	3	49692063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483	49692063	148330367	4119	14436											
BSN	8927	broad.mit.edu	37	chr3	49693296	49693296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatcagtcgcatgtgcGctgccctcaactccatggac	10	13	2	1	rs374754262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49693296G>A	ENST00000296452.4	+	5	6421	c.6307G>A	c.(6307-6309)Gct>Act	p.A2103T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2103					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCGCATGTGCGCTGCCCTCAA	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6307-6309)Gct>Act		bassoon presynaptic cytomatrix protein							65	65	65					3																	49693296		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693296G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6307G>A	3.37:g.49693296G>A	ENSP00000296452:p.Ala2103Thr						p.A2103T	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6421	+			2103					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6307G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031034	0.54790	.	.	ENSG00000164061	ENST00000296452	T	0.33865	1.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.59500	-0.7443	10	0.52906	T	0.07	-8.7787	19.3268	0.94265	0.0:0.0:1.0:0.0	.	2103	Q9UPA5	BSN_HUMAN	T	2103	ENSP00000296452:A2103T	ENSP00000296452:A2103T	A	+	1	0	BSN	49668300	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.855000	0.86950	2.561000	0.86390	0.650000	0.86243	GCT		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		17	379	0	0	0	1	0	17	379					A	49693296	G	A	49693296	3	1	79	1	0	0	0	0	1	0	0	0	1534	1087	38	1	6325	1	BSN	3	49693296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1233	49693296	148329134	4120	14437											
APEH	327	broad.mit.edu	37	chr3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcattttgggcccctggaGatgctggtgtggtgtttgtg	17	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	255					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(763-765)Gat>Aat		acylaminoacyl-peptide hydrolase							132	118	123					3																	49714060		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49714060G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.763G>A	3.37:g.49714060G>A	ENSP00000296456:p.Asp255Asn					APEH_ENST00000438011.1_Missense_Mutation_p.D255N	p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1163	+			255					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.763G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716078	0.89205	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;1.0	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.041945	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58969	1.84	0.80722	D	1	D;P	0.59357	0.985;0.896	P;B	0.56088	0.791;0.334	T	0.56523	-0.7965	10	0.51188	T	0.08	-18.567	19.4536	0.94878	0.0:0.0:1.0:0.0	.	255;255	C9JIF9;P13798	.;ACPH_HUMAN	N	255;154;180;255;206	ENSP00000296456:D255N;ENSP00000414369:D154N;ENSP00000402365:D180N;ENSP00000415862:D255N;ENSP00000410366:D206N	ENSP00000296456:D255N	D	+	1	0	APEH	49689064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.618000	0.88619	0.585000	0.79938	GAT		0.607	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			54	192	0	0	0	1	0	54	192					A	49714060	G	A	49714060	3	1	79	1	0	0	0	0	1	0	0	0	768	942	33	2	793	2	APEH	3	49714060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20764	49714060	148308370	4121	14438											
MST1	327	broad.mit.edu	37	chr3	49723901	49723901	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggcctcttggcggggCtgtgcctcggacccttagat	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49723901C>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_Missense_Mutation_p.Q212H|MST1_ENST00000449682.2_Missense_Mutation_p.Q287H|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000545762.1_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTGGCGGGGCTGTGCCTCGG	0.652																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(859-861)caG>caT		macrophage stimulating 1 (hepatocyte growth factor-like)							27	30	29					3																	49723901		2202	4297	6499	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723901C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723901C>A						MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Q212H	p.Q287H	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1222	-			273			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.861G>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703548	0.48412	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.62232	0.04;0.04	4.85	-3.32	0.04973	Kringle (1);Kringle-like fold (1);	0.181807	0.26665	N	0.023137	T	0.47173	0.1431	M	0.72118	2.19	0.19300	N	0.999978	B;B	0.09022	0.001;0.002	B;B	0.12837	0.004;0.008	T	0.32981	-0.9886	10	0.23891	T	0.37	.	0.8896	0.01252	0.4021:0.2414:0.1399:0.2166	.	273;287	P26927;G3XAK1	HGFL_HUMAN;.	H	287;212	ENSP00000414287:Q287H;ENSP00000373234:Q212H	ENSP00000373234:Q212H	Q	-	3	2	MST1	49698905	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-1.327000	0.02682	-0.857000	0.04115	-0.843000	0.03049	CAG		0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			14	226	1	0	1.15088e-07	1	1.19614e-07	14	226					A	49723901	C	A	49723901	1	1	79	0	1	0	0	0	0	0	0	0	9931	796	28	3		3	MST1	3	49723901	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9841	49723901	148298529	4122	14439											
MST1	63891	broad.mit.edu	37	chr3	49725205	49725205	+	5'Flank	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccattaagggcccacAgcgaccagcacactcttcag	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49725205A>C	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Intron|MST1_ENST00000449682.2_Missense_Mutation_p.C74G|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGGGCCCACAGCGACCAGCA	0.627																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(220-222)Tgt>Ggt		macrophage stimulating 1 (hepatocyte growth factor-like)							42	39	40					3																	49725205		2203	4299	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725205A>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725205A>C	Exception_encountered					MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G|MST1_ENST00000383728.3_Intron	p.C74G	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	581	-			60			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.220T>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032623	0.75504	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;D	0.99207	-5.56;-5.56	5.3	5.3	0.74995	.	0.000000	0.46145	D	0.000308	D	0.99214	0.9727	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.99399	1.0927	10	0.87932	D	0	.	14.1063	0.65091	1.0:0.0:0.0:0.0	.	60;74	B7Z538;G3XAK1	.;.	G	74;60	ENSP00000414287:C74G;ENSP00000437535:C60G	ENSP00000411117:C74G	C	-	1	0	MST1	49700209	1.000000	0.71417	0.082000	0.20525	0.912000	0.54170	6.637000	0.74304	2.136000	0.66102	0.482000	0.46254	TGT		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		48	265	0	0	0	1	0	48	265					C	49725205	A	C	49725205	1	2	79	0	1	0	0	0	0	0	0	0	9931	188	7	4		4	MST1	3	49725205	5'Flank	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1304	49725205	148297225	4123	14440											
RNF123	63891	broad.mit.edu	37	chr3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaactttggcaccatccGctctaccacatgcgtgtaca	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACCATCCGCTCTACCACA	0.552																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(373-375)cGc>cAc		ring finger protein 123							320	281	294					3																	49735349		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735349G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.374G>A	3.37:g.49735349G>A	ENSP00000328287:p.Arg125His					RNF123_ENST00000432042.1_5'UTR	p.R125H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	518	+			125			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.374G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64260	-0.09	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	D	0.82797	0.5115	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87548	0.2463	10	0.87932	D	0	-26.426	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	125	Q5XPI4	RN123_HUMAN	H	125	ENSP00000328287:R125H	ENSP00000328287:R125H	R	+	2	0	RNF123	49710353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.235000	0.78143	1.536000	0.49237	0.655000	0.94253	CGC		0.552	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		283	1172	0	0	0	1	0	283	1172					A	49735349	G	A	49735349	3	1	79	1	0	0	0	0	1	0	0	0	13483	1087	38	1	392	1	RNF123	3	49735349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10144	49735349	148287081	4124	14441											
RNF123	63891	broad.mit.edu	37	chr3	49735557	49735557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcaccatcagctgccGcttcaaccaggaggtacacg	11	14	2	0	rs538967921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735557G>A	ENST00000327697.6	+	7	614	c.470G>A	c.(469-471)cGc>cAc	p.R157H	RNF123_ENST00000432042.1_Missense_Mutation_p.R11H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	157	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGCTGCCGCTTCAACCAG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14638	0.0		0.0	False		,,,				2504	0.0					ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(469-471)cGc>cAc		ring finger protein 123							52	55	54					3																	49735557		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735557G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.470G>A	3.37:g.49735557G>A	ENSP00000328287:p.Arg157His					RNF123_ENST00000432042.1_Missense_Mutation_p.R11H	p.R157H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	7	614	+			157			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.470G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484585	0.96323	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.72051	-0.62;-0.62	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.240919	0.36374	N	0.002630	D	0.82797	0.5115	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82804	-0.0276	10	0.62326	D	0.03	-28.8845	19.1459	0.93467	0.0:0.0:1.0:0.0	.	157	Q5XPI4	RN123_HUMAN	H	157;157;11	ENSP00000328287:R157H;ENSP00000392443:R11H	ENSP00000328287:R157H	R	+	2	0	RNF123	49710561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.198000	0.77823	2.767000	0.95098	0.655000	0.94253	CGC		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	333	0	0	0	1	0	8	333					A	49735557	G	A	49735557	3	1	79	1	0	0	0	0	1	0	0	0	13483	1087	38	1	492	1	RNF123	3	49735557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	49735557	148286873	4125	14442											
RNF123	63891	broad.mit.edu	37	chr3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctgatctctgccctgCgctactattgggatgaatac	10	12	1	2	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	566					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCTGCCCTGCGCTACTATTG	0.562																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1696-1698)Cgc>Tgc		ring finger protein 123		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	298	257	271		1696	3.2	1	3	dbSNP_134	271	1,8599		0,1,4299	yes	missense	RNF123	NM_022064.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	566/1315	49740132	2,13004	2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49740132C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1696C>T	3.37:g.49740132C>T	ENSP00000328287:p.Arg566Cys					RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	p.R566C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	20	1840	+			566					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1696C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105078	0.77096	2.27E-4	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79352	-0.93;-1.26	5.2	3.19	0.36642	.	0.000000	0.64402	D	0.000017	T	0.80082	0.4558	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.81854	-0.0741	10	0.87932	D	0	-24.0101	12.4462	0.55651	0.3556:0.6444:0.0:0.0	.	420;566	C9J266;Q5XPI4	.;RN123_HUMAN	C	566;566;420	ENSP00000328287:R566C;ENSP00000392443:R420C	ENSP00000328287:R566C	R	+	1	0	RNF123	49715136	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.330000	0.33781	2.441000	0.82636	0.655000	0.94253	CGC		0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		159	1424	0	0	0	1	0	159	1424					T	49740132	C	T	49740132	3	4	79	1	0	0	0	0	1	0	0	0	13483	768	27	1	1770	1	RNF123	3	49740132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	49740132	148282298	4126	14443											
RNF123	63891	broad.mit.edu	37	chr3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactccccagttgaaggcaGccactggaatgagggcttgc	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	723					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTTGAAGGCAGCCACTGGAAT	0.642																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2167-2169)aGc>aTc		ring finger protein 123							33	35	35					3																	49742976		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742976G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2168G>T	3.37:g.49742976G>T	ENSP00000328287:p.Ser723Ile					RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	p.S723I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	24	2312	+			723					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.2168G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196140	0.38806	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77098	-0.75;-1.07	5.46	2.71	0.32032	.	0.382752	0.28933	N	0.013663	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.41265	0.744;0.089	B;B	0.34038	0.174;0.037	T	0.49011	-0.8983	10	0.40728	T	0.16	-13.4445	5.2758	0.15649	0.3055:0.1404:0.5541:0.0	.	577;723	C9J266;Q5XPI4	.;RN123_HUMAN	I	723;723;577	ENSP00000328287:S723I;ENSP00000392443:S577I	ENSP00000328287:S723I	S	+	2	0	RNF123	49717980	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.783000	0.47766	0.678000	0.31325	-0.258000	0.10820	AGC		0.642	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		47	218	1	0	1.19451e-25	1	1.37202e-25	47	218					T	49742976	G	T	49742976	3	4	79	1	0	0	0	0	1	0	0	0	13483	971	34	3	2258	3	RNF123	3	49742976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2844	49742976	148279454	4127	14444											
RNF123	63891	broad.mit.edu	37	chr3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgtctgcctgcggaccattGagcacggtgatcgcacaggg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000433785.1_5'Flank|RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGGACCATTGAGCACGGTGA	0.582																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2548-2550)Gag>Aag		ring finger protein 123							141	107	118					3																	49749963		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49749963G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2548G>A	3.37:g.49749963G>A	ENSP00000328287:p.Glu850Lys					RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	p.E850K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	27	2692	+			850					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.2548G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457635	0.84317	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.91	5.91	0.95273	.	0.047408	0.85682	D	0.000000	T	0.80829	0.4698	L	0.38531	1.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.75861	-0.3168	10	0.25106	T	0.35	-31.0211	19.2739	0.94023	0.0:0.0:1.0:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	K	850;850;704	ENSP00000328287:E850K;ENSP00000392443:E704K	ENSP00000328287:E850K	E	+	1	0	RNF123	49724967	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	9.298000	0.96132	2.803000	0.96430	0.650000	0.86243	GAG		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		59	228	0	0	0	1	0	59	228					A	49749963	G	A	49749963	3	1	79	1	0	0	0	0	1	0	0	0	13483	1291	45	2	2650	2	RNF123	3	49749963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6987	49749963	148272467	4128	14445											
RNF123	63891	broad.mit.edu	37	chr3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctgatgtggcacccaGcttcctcaacagcgtcctca	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1028					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGGCACCCAGCTTCCTCAAC	0.612																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3082-3084)aGc>aTc		ring finger protein 123							92	81	85					3																	49753080		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753080G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3083G>T	3.37:g.49753080G>T	ENSP00000328287:p.Ser1028Ile					RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	p.S1028I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	32	3227	+			1028					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3083G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299999	0.81136	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	.	0.082938	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68952	2.095	0.54753	D	0.999988	D	0.71674	0.998	D	0.75484	0.986	T	0.76966	-0.2763	10	0.45353	T	0.12	-32.0057	18.7944	0.91988	0.0:0.0:1.0:0.0	.	1028	Q5XPI4	RN123_HUMAN	I	1028;1028;140	ENSP00000328287:S1028I;ENSP00000416156:S140I	ENSP00000328287:S1028I	S	+	2	0	RNF123	49728084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.679000	0.91253	0.655000	0.94253	AGC		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		46	213	1	0	1.23713e-20	1	1.38774e-20	46	213					T	49753080	G	T	49753080	3	4	79	1	0	0	0	0	1	0	0	0	13483	971	34	3	3205	3	RNF123	3	49753080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3117	49753080	148269350	4129	14446											
RNF123	63891	broad.mit.edu	37	chr3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagaggaacctgtttgatCgtgtggtcaccctacggctg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1131					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCTGTTTGATCGTGTGGTCAC	0.582																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3391-3393)Cgt>Tgt		ring finger protein 123							94	80	85					3																	49753586		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753586C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3391C>T	3.37:g.49753586C>T	ENSP00000328287:p.Arg1131Cys					RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	p.R1131C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	34	3535	+			1131					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3391C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936114	0.73442	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74665	-0.3589	10	0.41790	T	0.15	-12.8022	13.0939	0.59180	0.2497:0.7503:0.0:0.0	.	1131	Q5XPI4	RN123_HUMAN	C	1131;1131;243	ENSP00000328287:R1131C	ENSP00000328287:R1131C	R	+	1	0	RNF123	49728590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	2.884000	0.98904	0.655000	0.94253	CGT		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		25	120	0	0	0	1	0	25	120					T	49753586	C	T	49753586	3	4	79	1	0	0	0	0	1	0	0	0	13483	884	31	1	3521	1	RNF123	3	49753586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506	49753586	148268844	4130	14447											
RNF123	63891	broad.mit.edu	37	chr3	49753836	49753836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctcaggcctagagagCgtggaccactatcccattct	8	15	2	1	rs377690361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3424-3426)agC>agT		ring finger protein 123		C		2,4404	4.2+/-10.8	0,2,2201	247	249	248		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753836C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3426C>T	3.37:g.49753836C>T						RNF123_ENST00000433785.1_Silent_p.S254S	p.S1142S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	35	3570	+			1142					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3426C>T	CCDS33758.1																																																																																				0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		265	1288	0	0	0	1	0	265	1288					T	49753836	C	T	49753836	2	4	79	1	0	0	0	0	0	0	0	1	13483	767	27	1		1	RNF123	3	49753836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	49753836	148268594	4131	14448											
RNF123	63891	broad.mit.edu	37	chr3	49757969	49757969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagccacatcagtgctcCtggcagatccctgcttccag	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000327697.6	+	36	3670	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1176					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGTGCTCCTGGCAGATCC	0.597																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5								adhesion molecule with Ig-like domain 3							50	41	44					3																	49757969		2203	4300	6503	SO:0001583	missense	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49757969C>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3526C>A	3.37:g.49757969C>A	ENSP00000328287:p.Leu1176Met					RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000327697.6_Missense_Mutation_p.L1176M				Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	2380	-								A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Translation_Start_Site	SNP	ENST00000327697.6	37		CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331587	0.60853	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76448	-1.02	4.97	3.03	0.35002	.	0.000000	0.64402	D	0.000008	D	0.82379	0.5024	L	0.55990	1.75	0.47183	D	0.999348	D	0.71674	0.998	D	0.80764	0.994	T	0.82000	-0.0674	10	0.62326	D	0.03	-13.6696	8.1277	0.31008	0.0:0.735:0.0:0.265	.	1176	Q5XPI4	RN123_HUMAN	M	1176;1176;288	ENSP00000328287:L1176M	ENSP00000328287:L1176M	L	+	1	2	RNF123	49732973	0.922000	0.31269	1.000000	0.80357	0.969000	0.65631	1.594000	0.36697	1.331000	0.45412	0.561000	0.74099	CTG		0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		58	240	1	0	3.76997e-23	1	4.28119e-23	58	240					A	49757969	C	A	49757969	3	1	79	1	0	0	0	0	1	0	0	0	13483	680	24	3	3664	3	RNF123	3	49757969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4133	49757969	148264461	4132	14449											
GMPPB	29925	broad.mit.edu	37	chr3	49759356	49759356	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcaggcacaCtccccgcccctctccccacc	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49759356C>T	ENST00000480687.1	-	10	1068				AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000308388.6_Intron|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_Silent_p.E331E			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGCACACTCCCCGCCCC	0.617																																						ENST00000308375.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(991-993)gaG>gaA		GDP-mannose pyrophosphorylase B							62	59	60					3																	49759356		2203	4300	6503	SO:0001627	intron_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759356C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.952-40G>A	3.37:g.49759356C>T						GMPPB_ENST00000308388.6_Intron|AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000480687.1_Intron	p.E331E			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1217	-			317					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.993G>A	CCDS2803.1																																																																																				0.617	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		9	448	0	0	0	1	0	9	448					T	49759356	C	T	49759356	1	4	79	0	1	0	0	0	0	0	0	0	6524	564	20	2		2	GMPPB	3	49759356	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1387	49759356	148263074	4133	14450											
IP6K1	9807	broad.mit.edu	37	chr3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggaactggagtagaagCggtaagaggcctgccgctcc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000321599.4	-	6	1287	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000468463.1_3'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	329					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592																																						ENST00000321599.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(985-987)cGc>cAc		inositol hexakisphosphate kinase 1							46	48	48					3																	49764895		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49764895C>T	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"inositol hexaphosphate kinase 1"	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.986G>A	3.37:g.49764895C>T	ENSP00000323780:p.Arg329His					IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H	p.R329H	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			6	1287	-			329					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.986G>A	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420960	0.96111	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.54805	T	0.06	-24.2595	20.0953	0.97838	0.0:1.0:0.0:0.0	.	329	Q92551	IP6K1_HUMAN	H	329;164;164	ENSP00000323780:R329H;ENSP00000378659:R164H;ENSP00000420762:R164H	ENSP00000323780:R329H	R	-	2	0	IP6K1	49739899	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGC		0.592	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		60	271	0	0	0	1	0	60	271					T	49764895	C	T	49764895	3	4	79	1	0	0	0	0	1	0	0	0	7818	768	27	1	343	1	IP6K1	3	49764895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5539	49764895	148257535	4134	14451											
C3orf54	7318	broad.mit.edu	37	chr3	49842116	49842116	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagtcgccagcccctggTactaggggacaattgctttg	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49842116T>C	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.V187A	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCCCCTGGTACTAGGGGAC	0.627																																						ENST00000333323.4																			0											c.(559-561)gTa>gCa		family with sequence similarity 212, member A							55	53	54					3																	49842116		2203	4299	6502	SO:0001628	intergenic_variant	389119							g.chr3:49842116T>C	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842116T>C							p.V187A	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	693	+			185					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.560T>C	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339763	0.81911	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.44	5.44	0.79542	.	0.000000	0.44097	D	0.000487	T	0.78892	0.4355	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81762	-0.0784	9	0.87932	D	0	.	15.2199	0.73303	0.0:0.0:0.0:1.0	.	185	Q96EL1	CC054_HUMAN	A	187	.	ENSP00000329735:V187A	V	+	2	0	C3orf54	49817120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.058000	0.71126	2.076000	0.62316	0.454000	0.30748	GTA		0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		22	445	0	0	0	1	0	22	445					C	49842116	T	C	49842116	1	2	79	0	1	0	0	0	0	0	0	0	2240	1638	57	4		4	C3orf54	3	49842116	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77221	49842116	148180314	4135	14452											
UBA7	7318	broad.mit.edu	37	chr3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataatctggcccacaattCgcttgctctgccaaggacaa	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	844					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2530-2532)cGa>cAa		ubiquitin-like modifier activating enzyme 7							74	69	71					3																	49845353		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49845353C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2531G>A	3.37:g.49845353C>T	ENSP00000333266:p.Arg844Gln						p.R844Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	21	2689	-			844					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2531G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	5.302	0.241135	0.10077	.	.	ENSG00000182179	ENST00000333486	T	0.38401	1.14	4.95	-3.92	0.04155	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.538297	0.19794	N	0.105901	T	0.14056	0.0340	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.10823	-1.0613	10	0.27082	T	0.32	0.055	4.8416	0.13492	0.2254:0.3499:0.0:0.4248	.	844	P41226	UBA7_HUMAN	Q	844	ENSP00000333266:R844Q	ENSP00000333266:R844Q	R	-	2	0	UBA7	49820357	0.009000	0.17119	0.003000	0.11579	0.278000	0.26855	-0.110000	0.10824	-0.715000	0.04968	-0.268000	0.10319	CGA		0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		46	168	0	0	0	1	0	46	168					T	49845353	C	T	49845353	3	4	79	1	0	0	0	0	1	0	0	0	16887	884	31	1	523	1	UBA7	3	49845353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3237	49845353	148177077	4136	14453											
UBA7	7318	broad.mit.edu	37	chr3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagcagctgtttgatgCcataatgaaagcagagtttc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	684					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2050-2052)gGc>gTc		ubiquitin-like modifier activating enzyme 7							129	133	131					3																	49847012		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847012C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2051G>T	3.37:g.49847012C>A	ENSP00000333266:p.Gly684Val						p.G684V	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	16	2209	-			684					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2051G>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984739	0.35036	.	.	ENSG00000182179	ENST00000333486	T	0.62788	-0.0	5.92	4.0	0.46444	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.745824	0.14247	N	0.331665	T	0.52008	0.1708	L	0.50333	1.59	0.46279	D	0.998968	B	0.19706	0.038	B	0.23275	0.045	T	0.42310	-0.9459	10	0.31617	T	0.26	-2.5993	4.8671	0.13613	0.0:0.5587:0.1533:0.2879	.	684	P41226	UBA7_HUMAN	V	684	ENSP00000333266:G684V	ENSP00000333266:G684V	G	-	2	0	UBA7	49822016	0.116000	0.22171	0.522000	0.27862	0.938000	0.57974	0.364000	0.20325	0.694000	0.31654	0.655000	0.94253	GGC		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		200	880	1	0	1.25801e-74	1	1.60312e-74	200	880					A	49847012	C	A	49847012	3	1	79	1	0	0	0	0	1	0	0	0	16887	739	26	3	1023	3	UBA7	3	49847012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1659	49847012	148175418	4137	14454											
UBA7	7318	broad.mit.edu	37	chr3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttcttcaaactcatgcCgggcccactgtggaggaggg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1846-1848)cGg>cAg		ubiquitin-like modifier activating enzyme 7							91	97	95					3																	49847305		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847305C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	3.37:g.49847305C>T	ENSP00000333266:p.Arg616Gln						p.R616Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2005	-			616					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1847G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		68	524	0	0	0	1	0	68	524					T	49847305	C	T	49847305	3	4	79	1	0	0	0	0	1	0	0	0	16887	652	23	1	1231	1	UBA7	3	49847305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	49847305	148175125	4138	14455											
UBA7	7318	broad.mit.edu	37	chr3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaccccacgaggccccGggtgtcagccgccagaaagc	11	17	2	1	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	152	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(454-456)Cgg>Tgg		ubiquitin-like modifier activating enzyme 7		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	53	54		454	2.1	1	3	dbSNP_134	54	0,8600		0,0,4300	yes	missense	UBA7	NM_003335.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	152/1013	49850508	1,13005	2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49850508G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.454C>T	3.37:g.49850508G>A	ENSP00000333266:p.Arg152Trp					UBA7_ENST00000494212.1_5'UTR	p.R152W	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	612	-			152			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.454C>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943843	0.18281	2.27E-4	0.0	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.04	2.09	0.27110	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.323101	0.31949	N	0.006812	T	0.25269	0.0614	L	0.50333	1.59	0.49798	D	0.999828	B	0.32507	0.373	B	0.25614	0.062	T	0.06499	-1.0823	10	0.51188	T	0.08	-17.4254	4.8768	0.13660	0.1784:0.0:0.5355:0.2861	.	152	P41226	UBA7_HUMAN	W	152	ENSP00000333266:R152W	ENSP00000333266:R152W	R	-	1	2	UBA7	49825512	0.003000	0.15002	0.964000	0.40570	0.036000	0.12997	0.691000	0.25467	0.648000	0.30732	-0.448000	0.05591	CGG		0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		31	169	0	0	0	1	0	31	169					A	49850508	G	A	49850508	3	1	79	1	0	0	0	0	1	0	0	0	16887	1115	39	1	2668	1	UBA7	3	49850508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3203	49850508	148171922	4139	14456											
TRAIP	10293	broad.mit.edu	37	chr3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctggattcggcacTgtgggcaggtccgacttggt	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	48					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(142-144)cAg>cGg		TRAF interacting protein							99	85	90					3																	49885589		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49885589T>C	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.143A>G	3.37:g.49885589T>C	ENSP00000328203:p.Gln48Arg					TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	256	-			48					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.143A>G	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664004	0.67700	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.67397	2.05	0.48452	D	0.99965	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.83275	0.932;0.996;0.979	T	0.58261	-0.7667	10	0.26408	T	0.33	-18.7394	15.0639	0.71977	0.0:0.0:0.0:1.0	.	48;48;48	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	R	48	ENSP00000328203:Q48R;ENSP00000420085:Q48R;ENSP00000418544:Q48R;ENSP00000419350:Q48R	ENSP00000328203:Q48R	Q	-	2	0	TRAIP	49860593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.837000	0.75354	2.152000	0.67230	0.533000	0.62120	CAG		0.488	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		44	146	0	0	0	1	0	44	146					C	49885589	T	C	49885589	3	2	79	1	0	0	0	0	1	0	0	0	16501	1580	55	4	1322	4	TRAIP	3	49885589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35081	49885589	148136841	4140	14457											
MST1R	4486	broad.mit.edu	37	chr3	49924980	49924980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctgcctcccagcattgCtgcatcacttggtacctgtt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49924980C>T	ENST00000296474.3	-	20	3990	c.3963G>A	c.(3961-3963)caG>caA	p.Q1321Q	MST1R_ENST00000344206.4_Silent_p.Q1272Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCAGCATTGCTGCATCACTT	0.557																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3961-3963)caG>caA		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							74	71	72					3																	49924980		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49924980C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3963G>A	3.37:g.49924980C>T						MST1R_ENST00000344206.4_Silent_p.Q1272Q	p.Q1321Q	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	20	3990	-			1321			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3963G>A	CCDS2807.1																																																																																				0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			13	367	0	0	0	1	0	13	367					T	49924980	C	T	49924980	2	4	79	1	0	0	0	0	0	0	0	1	9932	796	28	2		2	MST1R	3	49924980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39391	49924980	148097450	4141	14458											
MST1R	4486	broad.mit.edu	37	chr3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgatggcacattggattcGattctgggcctggtctatgt	12	8	2	1	rs150876558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16420	0.0		0.001	False		,,,				2504	0.0					ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3322-3324)Cga>Tga		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)		G	stop/ARG	1,4405		0,1,2202	243	211	222		3322	4.6	0.8	3	dbSNP_134	222	3,8597		0,3,4297	yes	stop-gained	MST1R	NM_002447.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1108/1401	49929221	4,13002	2203	4300	6503	SO:0001587	stop_gained	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929221G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3322C>T	3.37:g.49929221G>A	ENSP00000296474:p.Arg1108*					MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	p.R1108*	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3349	-			1108			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	37	c.3322C>T	CCDS2807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	38	7.213134	0.98139	2.27E-4	3.49E-4	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.48	4.6	0.57074	.	0.783895	0.12392	N	0.472947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.1745	4.2179	0.10544	0.0832:0.2301:0.5395:0.1471	.	.	.	.	X	1108;1059	.	ENSP00000296474:R1108X	R	-	1	2	MST1R	49904225	0.869000	0.29996	0.798000	0.32154	0.961000	0.63080	2.280000	0.43443	2.617000	0.88574	0.632000	0.83419	CGA		0.532	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			157	655	0	0	0	1	0	157	655					A	49929221	G	A	49929221	4	1	79	1	0	0	0	0	0	1	0	0	9932	1066	37	1	904	1	MST1R	3	49929221	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4241	49929221	148093209	4142	14459											
MST1R	4486	broad.mit.edu	37	chr3	49934771	49934771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccggctggtgcctacagacaGactctggccttcaagagtga	12	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	709	IPT/TIG 2.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(2125-2127)Ctg>Ttg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							75	70	72					3																	49934771		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49934771G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2125C>T	3.37:g.49934771G>A						MST1R_ENST00000344206.4_Silent_p.L709L	p.L709L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	7	2152	-			709			IPT/TIG 2.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.2125C>T	CCDS2807.1																																																																																				0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			61	310	0	0	0	1	0	61	310					A	49934771	G	A	49934771	2	1	79	1	0	0	0	0	0	0	0	1	9932	933	33	2		2	MST1R	3	49934771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5550	49934771	148087659	4143	14460											
MST1R	4486	broad.mit.edu	37	chr3	49940299	49940299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaagctgtgcacgtaTtcaatactgtaggagacaag	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(742-744)gaA>gaG		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							63	58	60					3																	49940299		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940299T>C	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.744A>G	3.37:g.49940299T>C						CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.E248E	p.E248E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	771	-			248			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.744A>G	CCDS2807.1																																																																																				0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			55	266	0	0	0	1	0	55	266					C	49940299	T	C	49940299	2	2	79	1	0	0	0	0	0	0	0	1	9932	1490	52	4		4	MST1R	3	49940299	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5528	49940299	148082131	4144	14461											
MST1R	4486	broad.mit.edu	37	chr3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgtgtctgtgtcaccggGagggccgtggggtcctgggc	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	115	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(343-345)Ccc>Tcc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							55	61	59					3																	49940700		2203	4299	6502	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940700G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.343C>T	3.37:g.49940700G>A	ENSP00000296474:p.Pro115Ser					CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P115S	p.P115S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	370	-			115			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.343C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278775	0.05679	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.96	-0.793	0.10922	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.970223	0.08471	N	0.940952	T	0.09024	0.0223	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B	0.31910	0.199;0.008;0.346;0.02;0.001	B;B;B;B;B	0.36244	0.098;0.011;0.22;0.045;0.011	T	0.44982	-0.9292	10	0.23891	T	0.37	-7.214	9.4743	0.38862	0.1899:0.3107:0.4994:0.0	.	115;115;115;115;115	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	S	115	ENSP00000296474:P115S;ENSP00000341325:P115S	ENSP00000296474:P115S	P	-	1	0	MST1R	49915704	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.556000	0.23438	-0.120000	0.11809	-1.598000	0.00824	CCC		0.677	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			30	552	0	0	0	1	0	30	552					A	49940700	G	A	49940700	3	1	79	1	0	0	0	0	1	0	0	0	9932	1174	41	2	3939	2	MST1R	3	49940700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49940700	148081730	4145	14462											
MON1A	84315	broad.mit.edu	37	chr3	49949310	49949310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcctggctgatctggcGcatgtctgtaggcagcggcg	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49949310G>A	ENST00000417270.1	-	4	979	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	88										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGATCTGGCGCATGTCTGTA	0.632																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(286-288)Cgc>Tgc		MON1 secretory trafficking family member A							45	45	45					3																	49949310		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49949310G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.286C>T	3.37:g.49949310G>A	ENSP00000399613:p.Arg96Cys					MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|MON1A_ENST00000483022.1_5'UTR	p.R96C			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	979	-			88					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.286C>T		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959600	0.53400	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.39	4.48	0.54585	.	0.306900	0.36778	N	0.002413	T	0.34221	0.0890	L	0.36672	1.1	0.38329	D	0.943736	P	0.49635	0.926	B	0.39660	0.306	T	0.21965	-1.0230	8	.	.	.	-12.0067	10.1754	0.42935	0.0:0.2584:0.6243:0.1173	.	88	Q86VX9	MON1A_HUMAN	C	185;96	.	.	R	-	1	0	MON1A	49924314	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	3.524000	0.53495	2.517000	0.84864	0.561000	0.74099	CGC		0.632	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		58	342	0	0	0	1	0	58	342					A	49949310	G	A	49949310	3	1	79	1	0	0	0	0	1	0	0	0	9739	1087	38	1	1421	1	MON1A	3	49949310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8610	49949310	148073120	4146	14463											
SEMA3F	6405	broad.mit.edu	37	chr3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggagctcatgctggagGaggtggaggtcttcaaggtg	19	5	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	510	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1528-1530)Gag>Aag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							126	104	112					3																	50222947		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50222947G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1528G>A	3.37:g.50222947G>A	ENSP00000002829:p.Glu510Lys					SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	p.E510K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	14	2012	+			510			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1528G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213343	0.79352	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.29917	1.55;1.55;1.55	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043661	0.85682	D	0.000000	T	0.51193	0.1660	H	0.96547	3.84	0.58432	D	0.999998	P;B	0.36660	0.564;0.148	B;B	0.35688	0.208;0.133	T	0.68051	-0.5511	10	0.87932	D	0	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	479;510	C9JQ85;Q13275	.;SEM3F_HUMAN	K	411;510;479	ENSP00000388931:E411K;ENSP00000002829:E510K;ENSP00000409859:E479K	ENSP00000002829:E510K	E	+	1	0	SEMA3F	50197951	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.395000	0.97266	2.575000	0.86900	0.448000	0.29417	GAG		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		28	122	0	0	0	1	0	28	122					A	50222947	G	A	50222947	3	1	79	1	0	0	0	0	1	0	0	0	14079	1175	41	2	1578	2	SEMA3F	3	50222947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273637	50222947	147799483	4147	14464											
GNAT1	2779	broad.mit.edu	37	chr3	50230697	50230697	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctctcctcggcctcaGgattatccaccaggacgggt	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000433068.1	+	3	205		c.e3-1		GNAT1_ENST00000232461.3_Splice_Site	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e3-1		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							98	92	94					3																	50230697		2203	4300	6503	SO:0001630	splice_region_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230697G>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.150-1G>T	3.37:g.50230697G>T			OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_ENST00000433068.1_Splice_Site		NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	263	+								Q4VBN2	Splice_Site	SNP	ENST00000433068.1	37		CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043107	0.75732	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAT1	50205701	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.668000	0.98619	2.573000	0.86826	0.655000	0.94253	.		0.612	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172	Intron	70	352	1	0	1.34568e-36	1	1.61182e-36	70	352					T	50230697	G	T	50230697	5	4	79	1	0	0	0	0	0	0	1	0	6540	1014	35	3	159	3	GNAT1	3	50230697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7750	50230697	147791733	4148	14465											
SLC38A3	10991	broad.mit.edu	37	chr3	50255260	50255260	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcccagctacttcacGctcaactcacaggttctgac	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	ENST00000420502.1	+	0	996									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCTACTTCACGCTCAACTCAC	0.592																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						85	91	89					3																	50255260		2126	4234	6360			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255260G>A	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255260G>A										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	996	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.592	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		93	353	0	0	0	1	0	93	353					A	50255260	G	A	50255260	1	1	79	0	1	0	0	0	0	0	0	0	14655	1074	38	1		1	SLC38A3	3	50255260	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24563	50255260	147767170	4149	14466											
GNAI2	2771	broad.mit.edu	37	chr3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgcactgtcctgcaccGccgaggagcaaggcgtgctc	12	13	0	0	rs368004918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637																																						ENST00000313601.6																			2	Substitution - Missense(2)	p.A114T(2)	ovary(1)|prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	121	110	113		229,340	5.3	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAI2	NM_001166425.1,NM_002070.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	77/319,114/356	50290492	1,13005	2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290492G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.340G>A	3.37:g.50290492G>A	ENSP00000312999:p.Ala114Thr					GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T	p.A114T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	724	+			114					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.340G>A	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	GNAI2	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC		0.637	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		134	759	0	0	0	1	0	134	759					A	50290492	G	A	50290492	3	1	79	1	0	0	0	0	1	0	0	0	6534	1087	38	1	365	1	GNAI2	3	50290492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35232	50290492	147731938	4150	14467											
SEMA3B	7869	broad.mit.edu	37	chr3	50313010	50313010	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggttccggcggcaagacGtaaggaatggcgaccccagc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	ENST00000418948.1	+	0	1903							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGCAAGACGTAAGGAATGG	0.662																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							65	79	75					3																	50313010		2028	4176	6204			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313010G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313010G>A										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1903	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	11.40	1.628796	0.28978	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.78	-0.282	0.12878	.	0.193005	0.44285	N	0.000473	T	0.24314	0.0589	.	.	.	.	.	.	B;B;B;B	0.18166	0.018;0.026;0.018;0.012	B;B;B;B	0.23150	0.011;0.044;0.011;0.012	T	0.35201	-0.9798	7	0.08837	T	0.75	.	8.4845	0.33063	0.4372:0.0:0.5628:0.0	.	556;306;556;557	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	I	556	.	ENSP00000446262:V556I	V	+	1	0	SEMA3B	50288014	0.465000	0.25815	0.103000	0.21229	0.987000	0.75469	0.713000	0.25794	-0.291000	0.09012	0.514000	0.50259	GTA		0.662	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		90	491	0	0	0	1	0	90	491					A	50313010	G	A	50313010	1	1	79	0	1	0	0	0	0	0	0	0	14075	1145	40	1		1	SEMA3B	3	50313010	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22518	50313010	147709420	4151	14468											
HYAL1	3373	broad.mit.edu	37	chr3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaccacatgctcttccGctcacaccacggtgcctgcc	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|NAT6_ENST00000417393.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGCTCTTCCGCTCACACCAC	0.552																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(1291-1293)Cgg>Tgg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						93	95	95					3																	50337931		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50337931G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	3.37:g.50337931G>A	ENSP00000266031:p.Arg431Trp					HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W	p.R431W			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1906	-			431					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1291C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG		0.552	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			14	384	0	0	0	1	0	14	384					A	50337931	G	A	50337931	3	1	79	1	0	0	0	0	1	0	0	0	7493	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24921	50337931	147684499	4152	14469											
HYAL1	3373	broad.mit.edu	37	chr3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggatagagggcacggCtctggccccacagccaccct	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	239					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGGCACGGCTCTGGCCCCA	0.587																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(715-717)aGc>aTc		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						53	48	50					3																	50339672		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339672C>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.716G>T	3.37:g.50339672C>A	ENSP00000266031:p.Ser239Ile					HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000447605.2_Intron	p.S239I			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1331	-			239					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.716G>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.079607	0.85682	D	0.000000	T	0.67325	0.2881	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76680	-0.2870	10	0.87932	D	0	-32.4736	17.8882	0.88863	0.0:1.0:0.0:0.0	.	239;239;239	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	I	239;239;239;239;57	ENSP00000378576:S239I;ENSP00000266031:S239I;ENSP00000346068:S239I;ENSP00000378575:S239I;ENSP00000393358:S57I	ENSP00000266031:S239I	S	-	2	0	HYAL1	50314676	1.000000	0.71417	0.894000	0.35097	0.412000	0.31113	3.976000	0.56867	2.585000	0.87301	0.655000	0.94253	AGC		0.587	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			20	237	1	0	1.64113e-05	1	1.68037e-05	20	237					A	50339672	C	A	50339672	3	1	79	1	0	0	0	0	1	0	0	0	7493	797	28	3	603	3	HYAL1	3	50339672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1741	50339672	147682758	4153	14470											
HYAL2	8692	broad.mit.edu	37	chr3	50357048	50357048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgggtcgtgtgaagacGtagactgggagtgcatggtt	18	4	0	3	rs373921434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	291					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGTGAAGACGTAGACTGGGA	0.592																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(871-873)taC>taT		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)	G	,	2,4404	4.2+/-10.8	0,2,2201	49	50	49		873,873	-6.2	0.6	3		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HYAL2	NM_003773.4,NM_033158.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	291/474,291/474	50357048	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357048G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.873C>T	3.37:g.50357048G>A						HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y	p.Y291Y			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	3165	-			291					B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	37	c.873C>T	CCDS2818.1																																																																																				0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		33	129	0	0	0	1	0	33	129					A	50357048	G	A	50357048	2	1	79	1	0	0	0	0	0	0	0	1	7494	1140	40	1		1	HYAL2	3	50357048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17376	50357048	147665382	4154	14471											
ZMYND10	51364	broad.mit.edu	37	chr3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtctgtgaggaaggcccGaagctgcaagggtgtccagt	16	8	1	1	rs371047847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|ZMYND10_ENST00000490675.1_Intron	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	293					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612										TSP Lung(30;0.18)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		17563	0.0		0.0	False		,,,				2504	0.0					ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(877-879)Cgg>Tgg		zinc finger, MYND-type containing 10							67	67	67					3																	50379568		2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379568G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.877C>T	3.37:g.50379568G>A	ENSP00000231749:p.Arg293Trp	TSP Lung(30;0.18)				ZMYND10_ENST00000490675.1_Intron|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W	p.R293W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	9	2149	-			293					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.877C>T	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721875	0.68959	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.31	3.41	0.39046	.	0.107154	0.64402	D	0.000005	T	0.76912	0.4054	M	0.86178	2.8	0.32311	N	0.563782	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.909	D	0.83569	0.0111	9	0.87932	D	0	-9.3558	13.8817	0.63686	0.0:0.0:0.7216:0.2784	.	288;293	O75800-2;O75800	.;ZMY10_HUMAN	W	293;288;250	.	ENSP00000231749:R293W	R	-	1	2	ZMYND10	50354572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.512000	0.45485	0.536000	0.28733	0.462000	0.41574	CGG		0.612	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		66	365	0	0	0	1	0	66	365					A	50379568	G	A	50379568	3	1	79	1	0	0	0	0	1	0	0	0	17758	1057	37	1	461	1	ZMYND10	3	50379568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22520	50379568	147642862	4155	14472											
NPRL2	10641	broad.mit.edu	37	chr3	50385985	50385985	+	Silent	SNP	G	G	A													atggacaccagtgtcacaacGccgtagtacctgagagagag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(691-693)ggC>ggT		nitrogen permease regulator-like 2 (S. cerevisiae)							146	128	134					3																	50385985		2203	4300	6503	SO:0001819	synonymous_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385985G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.693C>T	3.37:g.50385985G>A						NPRL2_ENST00000493465.1_5'UTR	p.G231G	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			7	1131	-			231					A8K831|Q6FGS2|Q9Y249|Q9Y497	Silent	SNP	ENST00000232501.3	37	c.693C>T	CCDS2826.1																																																																																				0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		68	256	0	0	0	1	0	68	256					A	50385985	G	A	50385985	2	1	79	1	0	0	0	0	0	0	0	1	10639	1074	38	1		1	NPRL2	3	50385985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6417	50385985	147636445	4156	14473	88	2									
NPRL2	10641	broad.mit.edu	37	chr3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T													accagtgtcacaacgccgtaGtacctgagagagagagctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	229					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(685-687)taC>taA		nitrogen permease regulator-like 2 (S. cerevisiae)							151	131	138					3																	50385991		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385991G>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.687C>A	3.37:g.50385991G>T	ENSP00000232501:p.Tyr229*					NPRL2_ENST00000493465.1_5'UTR	p.Y229*	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			7	1125	-			229					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.687C>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	38	6.645978	0.97730	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9752	10.0896	0.42439	0.2228:0.0:0.7772:0.0	.	.	.	.	X	229	.	ENSP00000232501:Y229X	Y	-	3	2	NPRL2	50360995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.347000	0.52200	0.285000	0.22329	0.655000	0.94253	TAC		0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		59	268	1	0	4.64241e-40	1	5.62287e-40	59	268					T	50385991	G	T	50385991	4	4	79	1	0	0	0	0	0	1	0	0	10639	1024	36	3	475	3	NPRL2	3	50385991	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	50385991	147636439	4157	14474	88	2									
CACNA2D2	9254	broad.mit.edu	37	chr3	50413104	50413104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccttataggcacccaGgtgtagttccgtgtcacctc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50413104G>A	ENST00000479441.1	-	21	1877	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CACNA2D2_ENST00000435965.1_Silent_p.T626T|CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	626					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TAGGCACCCAGGTGTAGTTCC	0.622																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1876-1878)acC>acT		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						102	93	96					3																	50413104		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50413104G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1878C>T	3.37:g.50413104G>A						CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T|CACNA2D2_ENST00000479441.1_Silent_p.T626T|CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T	p.T626T			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	21	2051	-			626					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.1878C>T	CCDS54588.1																																																																																				0.622	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		66	319	0	0	0	1	0	66	319					A	50413104	G	A	50413104	2	1	79	1	0	0	0	0	0	0	0	1	2556	987	35	2		2	CACNA2D2	3	50413104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27113	50413104	147609326	4158	14475											
HEMK1	51409	broad.mit.edu	37	chr3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttccctgagacatggagCtttggggccgaatgctgtgg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|C3orf18_ENST00000449241.1_5'Flank	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	3					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612																																						ENST00000232854.4																			0				lung(3)	3						c.(7-9)Ctt>Att		HemK methyltransferase family member 1							39	46	44					3																	50608542		2203	4300	6503	SO:0001583	missense	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50608542C>A	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.7C>A	3.37:g.50608542C>A	ENSP00000232854:p.Leu3Ile					HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I	p.L3I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	2	559	+			3						Missense_Mutation	SNP	ENST00000232854.4	37	c.7C>A	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452860	0.43531	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.19806	2.12;2.12;2.12	5.41	3.55	0.40652	.	0.555495	0.16504	N	0.211525	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.27297	-1.0078	10	0.33940	T	0.23	-0.1948	9.0888	0.36598	0.0:0.8172:0.0:0.1828	.	3	Q9Y5R4	HEMK1_HUMAN	I	3	ENSP00000404843:L3I;ENSP00000232854:L3I;ENSP00000404334:L3I	ENSP00000232854:L3I	L	+	1	0	HEMK1	50583546	0.001000	0.12720	0.005000	0.12908	0.211000	0.24417	0.129000	0.15830	0.599000	0.29845	0.561000	0.74099	CTT		0.612	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		27	336	1	0	2.48779e-11	1	2.65321e-11	27	336					A	50608542	C	A	50608542	3	1	79	1	0	0	0	0	1	0	0	0	7081	797	28	3	9	3	HEMK1	3	50608542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195438	50608542	147413888	4159	14476											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtgccttggccactatGcgggtagactacgaccaggt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	342	Autoinhibitory helix. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557																																						ENST00000446044.1																			1	Substitution - Missense(1)	p.M342I(1)	endometrium(1)	central_nervous_system(1)|ovary(1)	2						c.(1024-1026)atG>atA		mitogen-activated protein kinase-activated protein kinase 3							113	109	111					3																	50685354		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50685354G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1026G>A	3.37:g.50685354G>A	ENSP00000396467:p.Met342Ile					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	13	1622	+			342					B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.1026G>A	CCDS2832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.978411|3.978411	0.74360|0.74360	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000451680|ENST00000446044;ENST00000357955	.|T;T	.|0.47869	.|0.83;0.83	5.88|5.88	4.99|4.99	0.66335|0.66335	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45538|0.45538	0.1347|0.1347	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P	.|0.34629	.|0.46	.|B	.|0.28709	.|0.093	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.13853	.|T	.|0.58	-32.8874|-32.8874	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.863:0.137|0.0:0.0:0.863:0.137	.|.	.|342	.|Q16644	.|MAPK3_HUMAN	T|I	57|342	.|ENSP00000396467:M342I;ENSP00000350639:M342I	.|ENSP00000350639:M342I	A|M	+|+	1|3	0|0	MAPKAPK3|MAPKAPK3	50660358|50660358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.916000|7.916000	0.87491|0.87491	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|ATG		0.557	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		87	430	0	0	0	1	0	87	430					A	50685354	G	A	50685354	3	1	79	1	0	0	0	0	1	0	0	0	9331	1319	46	2	1064	2	MAPKAPK3	3	50685354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76812	50685354	147337076	4160	14477											
DOCK3	1795	broad.mit.edu	37	chr3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtttttgcaggtcTtatcatttctctgcagcttc	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	377					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1129-1131)cTt>cGt		dedicator of cytokinesis 3							103	97	99					3																	51251556		1863	4121	5984	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51251556T>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1130T>G	3.37:g.51251556T>G	ENSP00000266037:p.Leu377Arg						p.L377R	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	14	1153	+			377					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1130T>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412551	0.83340	.	.	ENSG00000088538	ENST00000266037	T	0.09163	3.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.48387	-0.9040	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	377	Q8IZD9	DOCK3_HUMAN	R	377	ENSP00000266037:L377R	ENSP00000266037:L377R	L	+	2	0	DOCK3	51226596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT		0.368	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	144	0	0	0	1	0	10	144					G	51251556	T	G	51251556	3	3	79	1	0	0	0	0	1	0	0	0	4704	1609	56	4	1184	4	DOCK3	3	51251556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566202	51251556	146770874	4161	14478											
DOCK3	1795	broad.mit.edu	37	chr3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgaccatgtatgtgCtttatgcagatggagaaatc	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1351-1353)Ctt>Att		dedicator of cytokinesis 3							165	162	163					3																	51263178		1892	4125	6017	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51263178C>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1351C>A	3.37:g.51263178C>A	ENSP00000266037:p.Leu451Ile						p.L451I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	15	1374	+			451			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1351C>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	DOCK3	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		88	398	1	0	1.55023e-36	1	1.85648e-36	88	398					A	51263178	C	A	51263178	3	1	79	1	0	0	0	0	1	0	0	0	4704	797	28	3	1409	3	DOCK3	3	51263178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	51263178	146759252	4162	14479											
DOCK3	1795	broad.mit.edu	37	chr3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcctaccactcctttgtcCtctaccacagtaatagtcct	4	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	479	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L468I(1)|p.L479I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCCTTTGTCCTCTACCACAG	0.478																																						ENST00000266037.9																			2	Substitution - Missense(2)	p.L468I(1)|p.L479I(1)	lung(2)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1435-1437)Ctc>Atc		dedicator of cytokinesis 3							160	154	156					3																	51264771		1853	4092	5945	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51264771C>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1435C>A	3.37:g.51264771C>A	ENSP00000266037:p.Leu479Ile						p.L479I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	16	1458	+			479			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1435C>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152422	0.94645	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00501	-1.1702	10	0.19590	T	0.45	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	479	Q8IZD9	DOCK3_HUMAN	I	479	ENSP00000266037:L479I	ENSP00000266037:L479I	L	+	1	0	DOCK3	51239811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CTC		0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		145	584	1	0	1.13124e-70	1	1.43728e-70	145	584					A	51264771	C	A	51264771	3	1	79	1	0	0	0	0	1	0	0	0	4704	681	24	3	1497	3	DOCK3	3	51264771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	51264771	146757659	4163	14480											
DOCK3	1795	broad.mit.edu	37	chr3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaataagaaccaggagctaCgctccctgatcagccagtat	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1522	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGAGCTACGCTCCCTGAT	0.512																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4564-4566)Cgc>Tgc		dedicator of cytokinesis 3							66	67	67					3																	51394453		2067	4207	6274	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51394453C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4564C>T	3.37:g.51394453C>T	ENSP00000266037:p.Arg1522Cys						p.R1522C	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	44	4587	+			1522			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4564C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429971	0.83776	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18174	2.23	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40270	-0.9572	10	0.56958	D	0.05	.	12.2217	0.54437	0.3272:0.6728:0.0:0.0	.	1522	Q8IZD9	DOCK3_HUMAN	C	1522;318	ENSP00000266037:R1522C	ENSP00000266037:R1522C	R	+	1	0	DOCK3	51369493	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.501000	0.60393	2.765000	0.95021	0.655000	0.94253	CGC		0.512	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		19	187	0	0	0	1	0	19	187					T	51394453	C	T	51394453	3	4	79	1	0	0	0	0	1	0	0	0	4704	536	19	1	4738	1	DOCK3	3	51394453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129682	51394453	146627977	4164	14481											
DOCK3	1795	broad.mit.edu	37	chr3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaccaaggctcagtcaCcaacgtctctgttctgtcct	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1728					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5182-5184)aCc>aTc		dedicator of cytokinesis 3							121	128	126					3																	51399995		2099	4219	6318	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51399995C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5183C>T	3.37:g.51399995C>T	ENSP00000266037:p.Thr1728Ile						p.T1728I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5206	+			1728					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5183C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832503	0.50845	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05139	3.49	5.26	5.26	0.73747	.	0.336637	0.33834	N	0.004503	T	0.07863	0.0197	L	0.40543	1.245	0.45427	D	0.998408	B	0.32968	0.392	B	0.31869	0.137	T	0.15350	-1.0440	10	0.56958	D	0.05	.	15.5861	0.76485	0.0:0.862:0.138:0.0	.	1728	Q8IZD9	DOCK3_HUMAN	I	1728;524	ENSP00000266037:T1728I	ENSP00000266037:T1728I	T	+	2	0	DOCK3	51375035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.702000	0.54800	2.605000	0.88082	0.563000	0.77884	ACC		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		46	197	0	0	0	1	0	46	197					T	51399995	C	T	51399995	3	4	79	1	0	0	0	0	1	0	0	0	4704	507	18	2	5377	2	DOCK3	3	51399995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5542	51399995	146622435	4165	14482											
VPRBP	9730	broad.mit.edu	37	chr3	51457286	51457286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgacgtaaagtttattggCgcttgccgcctctgttttgg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1046					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTTATTGGCGCTTGCCGCC	0.507																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1789-1791)gcG>gcA		Vpr (HIV-1) binding protein							147	142	144					3																	51457286		1932	4137	6069	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457286C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1791G>A	3.37:g.51457286C>T							p.A597A			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1800	-			1046					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.1791G>A																																																																																					0.507	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		118	421	0	0	0	1	0	118	421					T	51457286	C	T	51457286	2	4	79	1	0	0	0	0	0	0	0	1	17239	755	27	1		1	VPRBP	3	51457286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57291	51457286	146565144	4166	14483											
VPRBP	9730	broad.mit.edu	37	chr3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgactggggtaaagGcagaagaatgggaggcagca	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	886	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGGTAAAGGCAGAAGAATG	0.527																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1309-1311)gCc>gTc		Vpr (HIV-1) binding protein							125	136	132					3																	51457767		2169	4263	6432	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457767G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1310C>T	3.37:g.51457767G>A	ENSP00000338857:p.Ala437Val						p.A437V			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1319	-			886					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1310C>T		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877421	0.33162	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	.	0.263121	0.44688	D	0.000424	T	0.31071	0.0785	L	0.34521	1.04	0.44603	D	0.997579	B	0.29646	0.253	B	0.28305	0.088	T	0.06935	-1.0799	10	0.13470	T	0.59	-12.0272	20.6439	0.99570	0.0:0.0:1.0:0.0	.	886	Q9Y4B6	VPRBP_HUMAN	V	457;437	ENSP00000393183:A457V;ENSP00000338857:A437V	ENSP00000338857:A437V	A	-	2	0	VPRBP	51432807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.884000	0.98904	0.655000	0.94253	GCC		0.527	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		66	336	0	0	0	1	0	66	336					A	51457767	G	A	51457767	3	1	79	1	0	0	0	0	1	0	0	0	17239	1203	42	2	1910	2	VPRBP	3	51457767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	51457767	146564663	4167	14484											
VPRBP	9730	broad.mit.edu	37	chr3	51458120	51458120	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatctgccggacagtgctActgcgagacaggcccactag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	768	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGACAGTGCTACTGCGAGACA	0.567																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(955-957)agT>agC		Vpr (HIV-1) binding protein							102	97	99					3																	51458120		1995	4169	6164	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51458120A>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.957T>C	3.37:g.51458120A>G							p.S319S			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	966	-			768					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.957T>C																																																																																					0.567	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		96	434	0	0	0	1	0	96	434					G	51458120	A	G	51458120	2	3	79	1	0	0	0	0	0	0	0	1	17239	388	14	4		4	VPRBP	3	51458120	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	353	51458120	146564310	4168	14485											
VPRBP	9730	broad.mit.edu	37	chr3	51517735	51517735	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaaaagttattcatacCtggtaaggataggtaccatg	8	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	ENST00000335891.5	-	1	119	c.110G>T	c.(109-111)aGg>aTg	p.R37M				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	37					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTATTCATACCTGGTAAGGAT	0.443																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.e1+1		Vpr (HIV-1) binding protein							113	102	105					3																	51517735		1893	4107	6000	SO:0001630	splice_region_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51517735C>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.110+1G>T	3.37:g.51517735C>A							p.R37_splice			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	1	119	-			37					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37	c.110_splice		.	.	.	.	.	.	.	.	.	.	C	22.0	4.229696	0.79688	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.61040	0.14;0.59	4.95	4.95	0.65309	.	0.086238	0.85682	D	0.000000	T	0.62780	0.2456	M	0.61703	1.905	0.30541	N	0.766426	P	0.47910	0.902	P	0.47981	0.563	T	0.65709	-0.6102	9	.	.	.	-9.4898	16.5015	0.84257	0.0:1.0:0.0:0.0	.	37	Q9Y4B6	VPRBP_HUMAN	M	37	ENSP00000338857:R37M;ENSP00000421724:R37M	.	R	-	2	0	VPRBP	51492775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.121000	0.57904	2.729000	0.93468	0.655000	0.94253	AGG		0.443	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	Missense_Mutation	79	380	1	0	1.25742e-37	1	1.51121e-37	79	380					A	51517735	C	A	51517735	5	1	79	1	0	0	0	0	0	0	1	0	17239	695	24	3	4342	3	VPRBP	3	51517735	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59615	51517735	146504695	4169	14486											
GRM2	2912	broad.mit.edu	37	chr3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgctgcttgcgctcctgGcactgctgctgctgtggggt	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A9T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	9					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGCTCCTGGCACTGCTGCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(25-27)Gca>Aca		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						36	40	39					3																	51743024		2201	4300	6501	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743024G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.25G>A	3.37:g.51743024G>A	ENSP00000378492:p.Ala9Thr					GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	p.A9T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	259	+			9					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.25G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178770	0.21787	.	.	ENSG00000164082	ENST00000395052;ENST00000419928;ENST00000442933	D;D;D	0.94232	-2.44;-3.38;-2.54	4.98	1.85	0.25348	.	0.572387	0.10090	U	0.717260	D	0.84424	0.5469	N	0.19112	0.55	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.70428	-0.4874	10	0.22109	T	0.4	.	3.3242	0.07061	0.1657:0.2389:0.4812:0.1143	.	9	Q14416	GRM2_HUMAN	T	9	ENSP00000378492:A9T;ENSP00000404797:A9T;ENSP00000408906:A9T	ENSP00000296479:A9T	A	+	1	0	GRM2	51718064	0.168000	0.22989	0.928000	0.36995	0.922000	0.55478	0.356000	0.20181	0.622000	0.30249	-0.310000	0.09108	GCA		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			38	136	0	0	0	1	0	38	136					A	51743024	G	A	51743024	3	1	79	1	0	0	0	0	1	0	0	0	6827	1203	42	2	27	2	GRM2	3	51743024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225289	51743024	146279406	4170	14487											
GRM2	2912	broad.mit.edu	37	chr3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcactcagccgtggtGctgatggctcacgccacatc	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A114T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCCGTGGTGCTGATGGCTC	0.597																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(340-342)Gct>Act		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						92	72	78					3																	51743339		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743339G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.340G>A	3.37:g.51743339G>A	ENSP00000378492:p.Ala114Thr					GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	p.A114T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	574	+			114					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.340G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202368	0.38905	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.143290	0.48286	D	0.000185	T	0.66626	0.2808	N	0.02721	-0.515	0.41098	D	0.985647	B	0.17038	0.02	B	0.21360	0.034	T	0.64037	-0.6501	10	0.14252	T	0.57	.	12.5595	0.56273	0.0758:0.0:0.9242:0.0	.	114	Q14416	GRM2_HUMAN	T	114	ENSP00000378492:A114T;ENSP00000408906:A114T	ENSP00000296479:A114T	A	+	1	0	GRM2	51718379	0.997000	0.39634	0.260000	0.24451	0.952000	0.60782	4.131000	0.57970	2.555000	0.86185	0.655000	0.94253	GCT		0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			68	286	0	0	0	1	0	68	286					A	51743339	G	A	51743339	3	1	79	1	0	0	0	0	1	0	0	0	6827	1319	46	2	342	2	GRM2	3	51743339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	315	51743339	146279091	4171	14488											
GRM2	2912	broad.mit.edu	37	chr3	51749343	51749343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagccgggcgaagtctgCtgctggctctgcattccgtg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	518					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAAGTCTGCTGCTGGCTCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1552-1554)tgC>tgT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						34	31	32					3																	51749343		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749343C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1554C>T	3.37:g.51749343C>T						GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	p.C518C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1788	+			518					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.1554C>T	CCDS2834.1																																																																																				0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			14	190	0	0	0	1	0	14	190					T	51749343	C	T	51749343	2	4	79	1	0	0	0	0	0	0	0	1	6827	805	28	2		2	GRM2	3	51749343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6004	51749343	146273087	4172	14489											
IQCF2	389123	broad.mit.edu	37	chr3	51897380	51897380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacattgagatcatcaaCtcctaagggctggcaagaag	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	163										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATCATCAACTCCTAAGGGC	0.552																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(487-489)aaC>aaT		IQ motif containing F2							87	85	86					3																	51897380		2203	4300	6503	SO:0001819	synonymous_variant	389123							g.chr3:51897380C>T	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.489C>T	3.37:g.51897380C>T						IQCF2_ENST00000429548.1_3'UTR	p.N163N	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	518	+			163						Silent	SNP	ENST00000333127.3	37	c.489C>T	CCDS2835.1																																																																																				0.552	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		91	428	0	0	0	1	0	91	428					T	51897380	C	T	51897380	2	4	79	1	0	0	0	0	0	0	0	1	7838	564	20	2		2	IQCF2	3	51897380	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148037	51897380	146125050	4173	14490											
IQCF1	132141	broad.mit.edu	37	chr3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctggcaatagcgtctgCggatgcgccacatgcgggcc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(421-423)cGc>cAc		IQ motif containing F1							93	85	88					3																	51929102		2203	4300	6503	SO:0001583	missense	132141							g.chr3:51929102C>T	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.422G>A	3.37:g.51929102C>T	ENSP00000307958:p.Arg141His						p.R141H	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	484	-			141			IQ 2.		Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.422G>A	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	IQCF1	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC		0.607	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		94	465	0	0	0	1	0	94	465					T	51929102	C	T	51929102	3	4	79	1	0	0	0	0	1	0	0	0	7837	768	27	1	199	1	IQCF1	3	51929102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31722	51929102	146093328	4174	14491											
GPR62	118442	broad.mit.edu	37	chr3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctgctcggcgcctacGgcggcatcttcgtggtggcg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(577-579)Ggc>Agc		G protein-coupled receptor 62							5	6	6					3																	51990245		1273	2760	4033	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990245G>A	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"GPCR / Class A : Orphans"	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.577G>A	3.37:g.51990245G>A	ENSP00000319250:p.Gly193Ser						p.G193S	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	916	+			193					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.577G>A	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272912	0.23221	.	.	ENSG00000180929	ENST00000322241	T	0.71817	-0.6	4.21	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.779683	0.10556	N	0.660823	T	0.50922	0.1644	N	0.17631	0.505	0.27682	N	0.946402	B	0.25206	0.12	B	0.21546	0.035	T	0.33727	-0.9857	10	0.20519	T	0.43	-14.668	7.3158	0.26499	0.2858:0.0:0.7142:0.0	.	193	Q9BZJ7	GPR62_HUMAN	S	193	ENSP00000319250:G193S	ENSP00000319250:G193S	G	+	1	0	GPR62	51965285	0.282000	0.24268	0.952000	0.39060	0.802000	0.45316	0.144000	0.16135	-0.033000	0.13736	0.305000	0.20034	GGC		0.746	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			16	64	0	0	0	1	0	16	64					A	51990245	G	A	51990245	3	1	79	1	0	0	0	0	1	0	0	0	6732	1116	39	1	579	1	GPR62	3	51990245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61143	51990245	146032185	4175	14492											
GPR62	118442	broad.mit.edu	37	chr3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgcgggcctgcactcCgcaagcctggcacccgcggg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(952-954)cCg>cTg		G protein-coupled receptor 62							11	14	13					3																	51990621		2166	4252	6418	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990621C>T	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"GPCR / Class A : Orphans"	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.953C>T	3.37:g.51990621C>T	ENSP00000319250:p.Pro318Leu						p.P318L	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1292	+			318					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.953C>T	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455750	0.12283	.	.	ENSG00000180929	ENST00000322241	T	0.03065	4.06	4.75	0.657	0.17850	.	0.597438	0.12512	U	0.462400	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48525	-0.9028	10	0.16420	T	0.52	-10.3083	7.1624	0.25671	0.0:0.5642:0.0:0.4358	.	318	Q9BZJ7	GPR62_HUMAN	L	318	ENSP00000319250:P318L	ENSP00000319250:P318L	P	+	2	0	GPR62	51965661	0.000000	0.05858	0.010000	0.14722	0.685000	0.39939	0.147000	0.16202	0.058000	0.16222	0.561000	0.74099	CCG		0.697	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			52	145	0	0	0	1	0	52	145					T	51990621	C	T	51990621	3	4	79	1	0	0	0	0	1	0	0	0	6732	652	23	1	955	1	GPR62	3	51990621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	376	51990621	146031809	4176	14493											
ABHD14A	25864	broad.mit.edu	37	chr3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctggagcgggcgctgCgggacctggaggtacagaat	18	10	0	1	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000494103.1_5'Flank|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000476854.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	158						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627																																						ENST00000273596.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6						c.(472-474)Cgg>Tgg		abhydrolase domain containing 14A		C	TRP/ARG	0,4406		0,0,2203	59	59	59		472	3.9	0	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABHD14A	NM_015407.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	158/272	52014483	1,13005	2203	4300	6503	SO:0001583	missense	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014483C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.472C>T	3.37:g.52014483C>T	ENSP00000273596:p.Arg158Trp					ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	p.R158W	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	540	+			158					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.472C>T	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152146	0.38021	0.0	1.16E-4	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.35973	1.28;1.92	5.69	3.86	0.44501	.	0.985990	0.08284	N	0.969485	T	0.49525	0.1562	M	0.81682	2.555	0.51012	D	0.9999	D	0.63880	0.993	P	0.51229	0.663	T	0.44559	-0.9320	10	0.72032	D	0.01	-0.6127	5.0677	0.14591	0.1396:0.6:0.182:0.0784	.	158	Q9BUJ0	ABHEA_HUMAN	W	223;158;116;116	ENSP00000418242:R223W;ENSP00000273596:R158W	ENSP00000273596:R158W	R	+	1	2	ABHD14A	51989523	0.273000	0.24181	0.017000	0.16124	0.110000	0.19582	0.976000	0.29462	0.678000	0.31325	-0.251000	0.11542	CGG		0.627	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		106	386	0	0	0	1	0	106	386					T	52014483	C	T	52014483	3	4	79	1	0	0	0	0	1	0	0	0	79	759	27	1	486	1	ABHD14A	3	52014483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23862	52014483	146007947	4177	14494											
DUSP7	1849	broad.mit.edu	37	chr3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagctgatggcctcagGgaagaactgggagaggttct	15	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	311	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|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 MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGGCCTCAGGGAAGAACTGG	0.612																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(931-933)Cct>Act		dual specificity phosphatase 7							126	126	126					3																	52087977		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52087977G>T	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.931C>A	3.37:g.52087977G>T	ENSP00000417183:p.Pro311Thr					DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T	p.P311T			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1114	-			311			Tyrosine-protein phosphatase.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.931C>A	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049044	0.93740	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86030	-2.06;-2.06;-2.06	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92917	0.6352	10	0.72032	D	0.01	.	19.4497	0.94862	0.0:0.0:1.0:0.0	.	260;311	Q16829-2;Q16829	.;DUS7_HUMAN	T	311;260;244	ENSP00000417183:P311T;ENSP00000296483:P260T;ENSP00000418566:P244T	ENSP00000296483:P260T	P	-	1	0	DUSP7	52063017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCT		0.612	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		84	377	1	0	2.61895e-37	1	3.14394e-37	84	377					T	52087977	G	T	52087977	3	4	79	1	0	0	0	0	1	0	0	0	4846	1232	43	3	336	3	DUSP7	3	52087977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73494	52087977	145934453	4178	14495											
POC1A	25886	broad.mit.edu	37	chr3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacttctccatgatcaaCaatatcaaagttactcttcc	4	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000296484.2	-	9	952	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000394970.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	305					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CCATGATCAACAATATCAAAG	0.517																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(913-915)Gtt>Att		POC1 centriolar protein A							93	87	89					3																	52156463		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52156463C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.913G>A	3.37:g.52156463C>T	ENSP00000296484:p.Val305Ile					POC1A_ENST00000296484.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	p.V305I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			9	1230	-			305					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.913G>A	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179576	0.09443	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.58797	0.32;0.31;0.5	4.64	0.836	0.18891	WD40-repeat-containing domain (1);	1.093350	0.06840	N	0.795476	T	0.41305	0.1153	N	0.20807	0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.25950	-1.0117	10	0.32370	T	0.25	.	8.4839	0.33061	0.0:0.6345:0.0:0.3655	.	305;305	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	305;305;267	ENSP00000296484:V305I;ENSP00000378421:V305I;ENSP00000418968:V267I	ENSP00000296484:V305I	V	-	1	0	POC1A	52131503	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.017000	0.12590	0.045000	0.15804	-1.814000	0.00607	GTT		0.517	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		18	251	0	0	0	1	0	18	251					T	52156463	C	T	52156463	3	4	79	1	0	0	0	0	1	0	0	0	12217	478	17	2	322	2	POC1A	3	52156463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68486	52156463	145865967	4179	14496											
POC1A	25886	broad.mit.edu	37	chr3	52181054	52181054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggctgctcttgtcccaCagcttaacagtcttgtcatc	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000296484.2	-	5	552	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000394970.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	171			L -> P (in SOFT). {ECO:0000269|PubMed:22840363}.		cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(511-513)ctG>ctA		POC1 centriolar protein A							109	99	102					3																	52181054		2203	4300	6503	SO:0001819	synonymous_variant	25886					centriole|microtubule basal body		g.chr3:52181054C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.513G>A	3.37:g.52181054C>T						POC1A_ENST00000296484.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	p.L171L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			5	830	-			171					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.513G>A	CCDS2846.1																																																																																				0.582	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		61	332	0	0	0	1	0	61	332					T	52181054	C	T	52181054	2	4	79	1	0	0	0	0	0	0	0	1	12217	465	17	2		2	POC1A	3	52181054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24591	52181054	145841376	4180	14497											
POC1A	25886	broad.mit.edu	37	chr3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccacacaggtaactgCatctcggtggcccttaaaat	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000296484.2	-	2	100	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000394970.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	21					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(61-63)Gca>Tca		POC1 centriolar protein A							178	158	165					3																	52185074		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52185074C>A	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.61G>T	3.37:g.52185074C>A	ENSP00000296484:p.Ala21Ser					POC1A_ENST00000296484.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	p.A21S	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			2	378	-			21					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.61G>T	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730235	0.48939	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	T;T	0.59638	0.25;0.25	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.583031	0.18731	N	0.132733	T	0.45617	0.1351	L	0.37507	1.11	0.32886	D	0.51126	B;B	0.25809	0.135;0.078	B;B	0.26310	0.067;0.068	T	0.50642	-0.8804	10	0.17369	T	0.5	.	11.7868	0.52047	0.0:0.9193:0.0:0.0807	.	21;21	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	S	21	ENSP00000296484:A21S;ENSP00000378421:A21S	ENSP00000296484:A21S	A	-	1	0	POC1A	52160114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.643000	0.89663	0.650000	0.86243	GCA		0.532	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		126	591	1	0	1.20306e-52	1	1.49704e-52	126	591					A	52185074	C	A	52185074	3	1	79	1	0	0	0	0	1	0	0	0	12217	710	25	3	1202	3	POC1A	3	52185074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	52185074	145837356	4181	14498											
ALAS1	211	broad.mit.edu	37	chr3	52239987	52239987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcactcttgttttcctcGtgctttgtggccaatgactc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTTTTCCTCGTGCTTTGTGG	0.483																																						ENST00000394965.2																			1	Substitution - coding silent(1)	p.S311S(1)	ovary(1)	endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(931-933)tcG>tcA		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						166	157	160					3																	52239987		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239987G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.933G>A	3.37:g.52239987G>A						ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1293	+			311						Silent	SNP	ENST00000394965.2	37	c.933G>A	CCDS2847.1																																																																																				0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			107	324	0	0	0	1	0	107	324					A	52239987	G	A	52239987	2	1	79	1	0	0	0	0	0	0	0	1	484	1132	40	1		1	ALAS1	3	52239987	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54913	52239987	145782443	4182	14499											
TLR9	54106	broad.mit.edu	37	chr3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagagggttggcgcttaCatctagtatttgcagggcac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000360658.2	-	2	2902	c.2269G>A	c.(2269-2271)Gta>Ata	p.V757I	TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000597542.1_Missense_Mutation_p.V781I	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	757					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTGGCGCTTACATCTAGTATT	0.637																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2341-2343)Gta>Ata		toll-like receptor 9	Chloroquine(DB00608)						52	54	54					3																	52256063		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256063C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2269G>A	3.37:g.52256063C>T	ENSP00000353874:p.Val757Ile					TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000360658.2_Missense_Mutation_p.V757I	p.V781I			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3298	-			757					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2341G>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.740014|1.740014	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.56275	.|0.47	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.33938	.|N	.|0.004413	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.03608|0.03608	-0.345|-0.345	0.24419|0.24419	N|N	0.994621|0.994621	.|B;P	.|0.38148	.|0.114;0.62	.|B;B	.|0.36092	.|0.055;0.217	T|T	0.10520|0.10520	-1.0626|-1.0626	5|10	.|0.44086	.|T	.|0.13	.|.	8.2711|8.2711	0.31844|0.31844	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|854;757	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Y|I	910|757	.|ENSP00000353874:V757I	.|ENSP00000353874:V757I	C|V	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231103|52231103	0.003000|0.003000	0.15002|0.15002	0.255000|0.255000	0.24374|0.24374	0.066000|0.066000	0.16364|0.16364	-0.002000|-0.002000	0.12924|0.12924	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	TGT|GTA		0.637	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			76	381	0	0	0	1	0	76	381					T	52256063	C	T	52256063	3	4	79	1	0	0	0	0	1	0	0	0	16010	478	17	2	833	2	TLR9	3	52256063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16076	52256063	145766367	4183	14500											
TLR9	54106	broad.mit.edu	37	chr3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgacatccagcctcCggagccgggtgccagcaggc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000360658.2	-	2	2744	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	704					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ATCCAGCCTCCGGAGCCGGGT	0.627																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2182-2184)cGg>cAg		toll-like receptor 9	Chloroquine(DB00608)						39	46	44					3																	52256221		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256221C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2111G>A	3.37:g.52256221C>T	ENSP00000353874:p.Arg704Gln					TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000360658.2_Missense_Mutation_p.R704Q	p.R728Q			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3140	-			704					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2183G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138269	0.01742	.	.	ENSG00000239732	ENST00000360658	T	0.58506	0.33	5.03	-4.47	0.03525	.	0.711076	0.11608	N	0.547128	T	0.28896	0.0717	N	0.17674	0.51	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.12837	0.002;0.008	T	0.37079	-0.9721	10	0.02654	T	1	.	6.3756	0.21505	0.1466:0.5007:0.0:0.3527	.	801;704	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	704	ENSP00000353874:R704Q	ENSP00000353874:R704Q	R	-	2	0	TLR9	52231261	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.632000	0.00870	-0.844000	0.04184	0.462000	0.41574	CGG		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			36	398	0	0	0	1	0	36	398					T	52256221	C	T	52256221	3	4	79	1	0	0	0	0	1	0	0	0	16010	652	23	1	991	1	TLR9	3	52256221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	52256221	145766209	4184	14501											
TLR9	54106	broad.mit.edu	37	chr3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggagcgtggtcgcagCggcggcaatttccgcccaca	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000360658.2	-	2	1403	c.770G>A	c.(769-771)cGc>cAc	p.R257H	TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000597542.1_Missense_Mutation_p.R281H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	257					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GTGGTCGCAGCGGCGGCAATT	0.617																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(841-843)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)						41	34	36					3																	52257562		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257562C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.770G>A	3.37:g.52257562C>T	ENSP00000353874:p.Arg257His					TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000360658.2_Missense_Mutation_p.R257H	p.R281H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1799	-			257					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.842G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622972	0.87460	.	.	ENSG00000239732	ENST00000360658	T	0.19105	2.17	5.38	5.38	0.77491	.	0.000000	0.32548	N	0.005945	T	0.52273	0.1724	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58999	-0.7536	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	354;257	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	257	ENSP00000353874:R257H	ENSP00000353874:R257H	R	-	2	0	TLR9	52232602	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	7.427000	0.80284	2.521000	0.84997	0.655000	0.94253	CGC		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			26	142	0	0	0	1	0	26	142					T	52257562	C	T	52257562	3	4	79	1	0	0	0	0	1	0	0	0	16010	768	27	1	2332	1	TLR9	3	52257562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1341	52257562	145764868	4185	14502											
TLR9	54106	broad.mit.edu	37	chr3	52258212	52258212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgcagttcaccaggccGtggggctggagctcacaggg	16	11	2	0	rs151147353	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000360658.2	-	2	753	c.120C>T	c.(118-120)caC>caT	p.H40H	TLR9_ENST00000494383.1_Missense_Mutation_p.R194W|TLR9_ENST00000597542.1_Silent_p.H64H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	40					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCACCAGGCCGTGGGGCTGGA	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20588	0.0		0.0	False		,,,				2504	0.0					ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(580-582)Cgg>Tgg		toll-like receptor 9	Chloroquine(DB00608)	A		4,4402	8.1+/-20.4	0,4,2199	84	73	77		120	-10.4	0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	TLR9	NM_017442.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		40/1033	52258212	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52258212G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.120C>T	3.37:g.52258212G>A						TLR9_ENST00000597542.1_Silent_p.H64H|TLR9_ENST00000360658.2_Silent_p.H40H	p.R194W			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	579	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.580C>T	CCDS2848.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.012	-1.652272	0.00785	9.08E-4	0.0	ENSG00000173366	ENST00000494383	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	3.9338	0.09298	0.235:0.1249:0.4535:0.1866	.	.	.	.	W	194	.	.	R	-	1	2	RP11-330H6.5	52233252	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-6.209000	0.00076	-5.697000	0.00010	-4.451000	0.00005	CGG		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			32	250	0	0	0	1	0	32	250					A	52258212	G	A	52258212	2	1	79	1	0	0	0	0	0	0	0	1	16010	1136	40	1		1	TLR9	3	52258212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	52258212	145764218	4186	14503											
TWF2	11344	broad.mit.edu	37	chr3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcagccgaggtcagcGgggcaggtgccgcacaggac	15	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000305533.5	-	5	680	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000494383.1_Silent_p.P6P|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	146					barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGTCAGCGGGGCAGGTGC	0.617																																						ENST00000305533.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(436-438)cCg>cTg		twinfilin actin-binding protein 2							87	92	90					3																	52265189		2203	4300	6503	SO:0001583	missense	11344							g.chr3:52265189G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.437C>T	3.37:g.52265189G>A	ENSP00000303908:p.Pro146Leu					TLR9_ENST00000494383.1_Silent_p.P6P|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L	p.P146L	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	680	-								Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.437C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244418	0.59103	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	.	.	.	.	.	T	0.59649	0.2209	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61422	-0.7066	9	0.35671	T	0.21	.	14.4189	0.67171	0.0733:0.0:0.9267:0.0	.	146;146	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	146	ENSP00000303908:P146L;ENSP00000426464:P146L	ENSP00000303908:P146L	P	-	2	0	TWF2	52240229	1.000000	0.71417	0.953000	0.39169	0.107000	0.19398	5.350000	0.66016	2.527000	0.85204	0.448000	0.29417	CCG		0.617	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			95	578	0	0	0	1	0	95	578					A	52265189	G	A	52265189	3	1	79	1	0	0	0	0	1	0	0	0	16836	1116	39	1	632	1	TWF2	3	52265189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	52265189	145757241	4187	14504											
TWF2	11344	broad.mit.edu	37	chr3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattctgtgagtcgaggcGgtagagcaggtagcagggct	17	7	1	2	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000305533.5	-	3	457	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	72	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.		R -> C (in dbSNP:rs35114109). {ECO:0000269|PubMed:17344846}.		barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCGAGGCGGTAGAGCAGG	0.647											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305533.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(214-216)Cgc>Tgc		twinfilin actin-binding protein 2							88	82	84					3																	52266028		2203	4300	6503	SO:0001583	missense	11344							g.chr3:52266028G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.214C>T	3.37:g.52266028G>A	ENSP00000303908:p.Arg72Cys		OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	p.R72C	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	457	-								Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.214C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.38560	1.13;1.13	5.61	5.61	0.85477	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.71660	0.3366	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.932	T	0.76528	-0.2926	9	0.66056	D	0.02	.	19.6089	0.95594	0.0:0.0:1.0:0.0	rs35114109	72;72	D6RG15;Q6IBS0	.;TWF2_HUMAN	C	72	ENSP00000303908:R72C;ENSP00000426464:R72C	ENSP00000303908:R72C	R	-	1	0	TWF2	52241068	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.880000	0.87243	2.644000	0.89710	0.455000	0.32223	CGC		0.647	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			74	295	0	0	0	1	0	74	295					A	52266028	G	A	52266028	3	1	79	1	0	0	0	0	1	0	0	0	16836	1116	39	1	863	1	TWF2	3	52266028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	52266028	145756402	4188	14505											
DNAH1	25981	broad.mit.edu	37	chr3	52357823	52357823	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatggtttggtttcaGgaggtatgtcgtggcccccg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622																																						ENST00000420323.2																			1	Unknown(1)	p.?(1)	ovary(1)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e3-1		dynein, axonemal, heavy chain 1							48	49	49					3																	52357823		1916	4132	6048	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357823G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.334-1G>A	3.37:g.52357823G>A								NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	594	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	6	31	0	0	0	1	0	6	31					A	52357823	G	A	52357823	5	1	79	1	0	0	0	0	0	0	1	0	4613	1014	35	2	339	2	DNAH1	3	52357823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91795	52357823	145664607	4189	14506											
DNAH1	25981	broad.mit.edu	37	chr3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttcaggaggtatgtcGtggcccccgaatgagccaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	115	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTATGTCGTGGCCCCCGA	0.627																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(343-345)cGt>cAt		dynein, axonemal, heavy chain 1							46	48	47					3																	52357834		1934	4133	6067	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357834G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.344G>A	3.37:g.52357834G>A	ENSP00000401514:p.Arg115His						p.R115H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	605	+			115			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.344G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919947	0.17982	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.07	1.11	0.20524	.	1.333110	0.05233	N	0.510691	T	0.14399	0.0348	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.15141	0.012;0.01	B;B	0.08055	0.002;0.003	T	0.26950	-1.0088	10	0.35671	T	0.21	.	5.2573	0.15553	0.2825:0.2603:0.4572:0.0	.	115;115	C9JXH6;Q9P2D7-3	.;.	H	115	ENSP00000401514:R115H	ENSP00000401514:R115H	R	+	2	0	DNAH1	52332874	0.067000	0.21026	0.299000	0.25016	0.005000	0.04900	1.169000	0.31871	0.336000	0.23639	-0.150000	0.13652	CGT		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	29	0	0	0	1	0	11	29					A	52357834	G	A	52357834	3	1	79	1	0	0	0	0	1	0	0	0	4613	1145	40	1	350	1	DNAH1	3	52357834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	52357834	145664596	4190	14507											
DNAH1	25981	broad.mit.edu	37	chr3	52357889	52357889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccttgacaagttcacCccaagaggtcagtgctcagg	11	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	ENST00000420323.2	+	3	660	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	133	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAAGTTCACCCCAAGAGGTC	0.567																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(397-399)acC>acT		dynein, axonemal, heavy chain 1							41	42	42					3																	52357889		1933	4142	6075	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357889C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.399C>T	3.37:g.52357889C>T							p.T133T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	660	+			133			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.399C>T	CCDS46842.1																																																																																				0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	27	0	0	0	1	0	6	27					T	52357889	C	T	52357889	2	4	79	1	0	0	0	0	0	0	0	1	4613	610	22	2		2	DNAH1	3	52357889	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	52357889	145664541	4191	14508											
DNAH1	25981	broad.mit.edu	37	chr3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccaggccagcatcctcGcaagattgagatcgagaggt	13	11	0	3	rs200051758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	188	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCCTCGCAAGATTGAG	0.642																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(562-564)cGc>cAc		dynein, axonemal, heavy chain 1							34	38	37					3																	52360312		2077	4205	6282	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52360312G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.563G>A	3.37:g.52360312G>A	ENSP00000401514:p.Arg188His						p.R188H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	4	824	+			188			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.563G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381376	0.95945	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	188;188	C9JXH6;Q9P2D7-3	.;.	H	188	ENSP00000401514:R188H	ENSP00000401514:R188H	R	+	2	0	DNAH1	52335352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.813000	0.96785	0.561000	0.74099	CGC		0.642	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		8	118	0	0	0	1	0	8	118					A	52360312	G	A	52360312	3	1	79	1	0	0	0	0	1	0	0	0	4613	1087	38	1	573	1	DNAH1	3	52360312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2423	52360312	145662118	4192	14509											
DNAH1	25981	broad.mit.edu	37	chr3	52360809	52360809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgttcagccagggcatcGactccaacaagctcatgccc	9	15	2	0	rs373792628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360809G>A	ENST00000420323.2	+	5	901	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	214	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGGCATCGACTCCAACAA	0.592																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(640-642)Gac>Aac		dynein, axonemal, heavy chain 1		G	ASN/ASP	0,4284		0,0,2142	103	123	117		640	5.6	1	3		117	1,8489		0,1,4244	no	missense	DNAH1	NM_015512.4	23	0,1,6386	AA,AG,GG		0.0118,0.0,0.0078	benign	214/4266	52360809	1,12773	2142	4245	6387	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52360809G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.640G>A	3.37:g.52360809G>A	ENSP00000401514:p.Asp214Asn						p.D214N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	901	+			214			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.640G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778814	0.49891	0.0	1.18E-4	ENSG00000114841	ENST00000420323	T	0.23950	1.88	5.64	5.64	0.86602	.	0.112641	0.39210	N	0.001427	T	0.20659	0.0497	L	0.35341	1.055	0.44890	D	0.997904	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.04005	-1.0985	10	0.23891	T	0.37	.	13.9344	0.64017	0.0723:0.0:0.9277:0.0	.	214;214	C9JXH6;Q9P2D7-3	.;.	N	214	ENSP00000401514:D214N	ENSP00000401514:D214N	D	+	1	0	DNAH1	52335849	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	2.950000	0.49081	2.655000	0.90218	0.462000	0.41574	GAC		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	196	0	0	0	1	0	6	196					A	52360809	G	A	52360809	3	1	79	1	0	0	0	0	1	0	0	0	4613	1058	37	1	654	1	DNAH1	3	52360809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	52360809	145661621	4193	14510											
DNAH1	25981	broad.mit.edu	37	chr3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcccactgcaggcctacGccaaggagtaccgaaagtac	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	748	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGCCTACGCCAAGGAGTA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2242-2244)Gcc>Acc		dynein, axonemal, heavy chain 1							130	136	134					3																	52383039		2190	4282	6472	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383039G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2242G>A	3.37:g.52383039G>A	ENSP00000401514:p.Ala748Thr						p.A748T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2503	+			748			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2242G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371925	0.61624	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.24	4.33	0.51752	.	0.133352	0.33457	N	0.004882	T	0.38719	0.1051	M	0.83012	2.62	0.43050	D	0.994657	P;D	0.53619	0.668;0.961	B;P	0.48873	0.158;0.593	T	0.39502	-0.9611	10	0.52906	T	0.07	.	10.3996	0.44222	0.0718:0.0:0.7944:0.1338	.	748;748	C9JXH6;Q9P2D7-3	.;.	T	748	ENSP00000401514:A748T	ENSP00000401514:A748T	A	+	1	0	DNAH1	52358079	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	3.970000	0.56824	2.454000	0.82982	0.655000	0.94253	GCC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		58	274	0	0	0	1	0	58	274					A	52383039	G	A	52383039	3	1	79	1	0	0	0	0	1	0	0	0	4613	1087	38	1	2288	1	DNAH1	3	52383039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22230	52383039	145639391	4194	14511											
DNAH1	25981	broad.mit.edu	37	chr3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggagaacaaactgaagCtgacccaggtcggccctccc	11	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1229	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACTGAAGCTGACCCAGGT	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3685-3687)Ctg>Atg		dynein, axonemal, heavy chain 1							90	92	91					3																	52389063		2006	4153	6159	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52389063C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3685C>A	3.37:g.52389063C>A	ENSP00000401514:p.Leu1229Met						p.L1229M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3946	+			1229			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3685C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815470	0.32145	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.14	4.27	0.50696	.	0.195600	0.24935	N	0.034437	T	0.51702	0.1690	L	0.39147	1.195	0.34934	D	0.749625	B	0.32382	0.368	B	0.38327	0.271	T	0.59332	-0.7474	10	0.39692	T	0.17	.	5.0893	0.14700	0.2129:0.6141:0.0:0.173	.	1229	C9JXH6	.	M	1229	ENSP00000401514:L1229M	ENSP00000401514:L1229M	L	+	1	2	DNAH1	52364103	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.028000	0.41088	1.164000	0.42652	0.462000	0.41574	CTG		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		53	226	1	0	1.32667e-27	1	1.53764e-27	53	226					A	52389063	C	A	52389063	3	1	79	1	0	0	0	0	1	0	0	0	4613	796	28	3	3763	3	DNAH1	3	52389063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6024	52389063	145633367	4195	14512											
DNAH1	25981	broad.mit.edu	37	chr3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttctgcagctcagtgatCtggtggcccttgtgcggggg	15	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1473	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCAGTGATCTGGTGGCCCT	0.592																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4417-4419)Ctg>Atg		dynein, axonemal, heavy chain 1							157	163	161					3																	52393941		2131	4242	6373	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393941C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4417C>A	3.37:g.52393941C>A	ENSP00000401514:p.Leu1473Met						p.L1473M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4678	+			1473			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4417C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494211	0.44352	.	.	ENSG00000114841	ENST00000420323	T	0.58210	0.35	5.13	3.33	0.38152	.	0.000000	0.42294	D	0.000740	T	0.68952	0.3057	M	0.85777	2.775	0.43808	D	0.996361	D	0.65815	0.995	P	0.61722	0.893	T	0.69658	-0.5086	10	0.46703	T	0.11	.	9.803	0.40775	0.0:0.7571:0.0:0.2429	.	1473	C9JXH6	.	M	1473	ENSP00000401514:L1473M	ENSP00000401514:L1473M	L	+	1	2	DNAH1	52368981	0.787000	0.28750	1.000000	0.80357	0.763000	0.43281	0.671000	0.25172	0.744000	0.32741	0.561000	0.74099	CTG		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		188	773	1	0	9.20498e-97	1	1.18326e-96	188	773					A	52393941	C	A	52393941	3	1	79	1	0	0	0	0	1	0	0	0	4613	912	32	3	4519	3	DNAH1	3	52393941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4878	52393941	145628489	4196	14513											
DNAH1	25981	broad.mit.edu	37	chr3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagccactggctaaggCtcaagatggagaacgaacag	12	9	2	2	rs199569114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2133					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGCTAAGGCTCAAGATGGA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6397-6399)Ctc>Ttc		dynein, axonemal, heavy chain 1							29	31	31					3																	52404631		1974	4140	6114	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52404631C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6397C>T	3.37:g.52404631C>T	ENSP00000401514:p.Leu2133Phe						p.L2133F	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	40	6658	+			2133					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6397C>T	CCDS46842.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.713048	0.30413	.	.	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.0	-7.62	0.01294	.	2.801390	0.01128	N	0.005936	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.56958	D	0.05	.	1.2459	0.01973	0.2984:0.1958:0.3185:0.1873	.	2133	C9JXH6	.	F	2133	ENSP00000401514:L2133F	ENSP00000401514:L2133F	L	+	1	0	DNAH1	52379671	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.234000	0.09028	-0.885000	0.03971	-1.478000	0.00992	CTC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	87	0	0	0	1	0	16	87					T	52404631	C	T	52404631	3	4	79	1	0	0	0	0	1	0	0	0	4613	797	28	2	6551	2	DNAH1	3	52404631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10690	52404631	145617799	4197	14514											
DNAH1	25981	broad.mit.edu	37	chr3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattttctccatcctcatcGggcagaagaaactggagctg	9	10	2	2	rs372068387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2819	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCTCATCGGGCAGAAGAA	0.567											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8455-8457)Ggg>Agg		dynein, axonemal, heavy chain 1		G	ARG/GLY	0,4082		0,0,2041	41	43	42		8455	4.4	1	3		42	1,8375		0,1,4187	no	missense	DNAH1	NM_015512.4	125	0,1,6228	AA,AG,GG		0.0119,0.0,0.0080	benign	2819/4266	52418934	1,12457	2041	4188	6229	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52418934G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8455G>A	3.37:g.52418934G>A	ENSP00000401514:p.Gly2819Arg		OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984		p.G2819R	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	53	8716	+			2819			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8455G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305031	0.40795	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.38	4.38	0.52667	.	0.122893	0.36740	N	0.002422	T	0.37461	0.1004	L	0.50919	1.6	0.52099	D	0.99994	B	0.25772	0.134	B	0.16722	0.016	T	0.19095	-1.0316	10	0.20519	T	0.43	.	17.1091	0.86670	0.0:0.0:1.0:0.0	.	2819	C9JXH6	.	R	2819	ENSP00000401514:G2819R	ENSP00000401514:G2819R	G	+	1	0	DNAH1	52393974	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	5.038000	0.64177	2.287000	0.76781	0.561000	0.74099	GGG		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		23	107	0	0	0	1	0	23	107					A	52418934	G	A	52418934	3	1	79	1	0	0	0	0	1	0	0	0	4613	1116	39	1	8661	1	DNAH1	3	52418934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14303	52418934	145603496	4198	14515											
DNAH1	25981	broad.mit.edu	37	chr3	52425296	52425296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatgtctcctggagaaCgtgggcgaggagctagaccc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3346	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGAGAACGTGGGCGAGG	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9841-9843)aaC>aaT		dynein, axonemal, heavy chain 1							31	35	33					3																	52425296		2159	4252	6411	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52425296C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9843C>T	3.37:g.52425296C>T							p.N3281N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	62	10104	+			3346			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9843C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789874	0.02884	.	.	ENSG00000114841	ENST00000480649	.	.	.	4.46	-7.97	0.01139	.	.	.	.	.	T	0.61223	0.2330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	.	14.9602	0.71151	0.0:0.5399:0.0:0.4601	.	.	.	.	C	93	.	.	R	+	1	0	DNAH1	52400336	0.004000	0.15560	0.845000	0.33349	0.137000	0.21094	-1.529000	0.02223	-1.758000	0.01315	-0.768000	0.03414	CGT		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		21	78	0	0	0	1	0	21	78					T	52425296	C	T	52425296	2	4	79	1	0	0	0	0	0	0	0	1	4613	535	19	1		1	DNAH1	3	52425296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6362	52425296	145597134	4199	14516											
DNAH1	25981	broad.mit.edu	37	chr3	52429072	52429072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccacgcttcattgaaccCcaggcaagtgctggaaccct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3720					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATTGAACCCCAGGCAAGTG	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10963-10965)ccC>ccT		dynein, axonemal, heavy chain 1							28	31	30					3																	52429072		2042	4185	6227	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429072C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10965C>T	3.37:g.52429072C>T							p.P3655P	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	68	11226	+			3720					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10965C>T	CCDS46842.1																																																																																				0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		7	48	0	0	0	1	0	7	48					T	52429072	C	T	52429072	2	4	79	1	0	0	0	0	0	0	0	1	4613	610	22	2		2	DNAH1	3	52429072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3776	52429072	145593358	4200	14517											
PHF7	51533	broad.mit.edu	37	chr3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcagcgtgcattatTtctgtcttgtgagtatgagg	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	60						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(178-180)Ttc>Gtc		PHD finger protein 7							109	109	109					3																	52448595		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52448595T>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.178T>G	3.37:g.52448595T>G	ENSP00000333024:p.Phe60Val					PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000478707.1_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	p.F60V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	4	838	+			60					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.178T>G	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.134929|4.134929	0.77662|0.77662	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000454052|ENST00000461861	T;T;T|.	0.69040|.	-0.37;-0.37;-0.37|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.157115|.	0.56097|.	D|.	0.000022|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.81341|0.81341	2.54|2.54	0.46458|0.46458	D|D	0.999055|0.999055	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.76721|0.76721	-0.2855|-0.2855	10|5	0.31617|.	T|.	0.26|.	-19.9395|-19.9395	11.9004|11.9004	0.52680|0.52680	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;60|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|M	60;60;60;25|19	ENSP00000419316:F60V;ENSP00000333024:F60V;ENSP00000246282:F60V|.	ENSP00000333024:F60V|.	F|I	+|+	1|3	0|3	PHF7|PHF7	52423635|52423635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.582000|3.582000	0.53921|0.53921	2.071000|2.071000	0.62044|0.62044	0.460000|0.460000	0.39030|0.39030	TTC|ATT		0.443	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		11	361	0	0	0	1	0	11	361					G	52448595	T	G	52448595	3	3	79	1	0	0	0	0	1	0	0	0	11881	1841	64	4	188	4	PHF7	3	52448595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19523	52448595	145573835	4201	14518											
SEMA3G	56920	broad.mit.edu	37	chr3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctcgggcaaactgcaGcacctcatctgggtagtcct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	405	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1213-1215)Ctg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							93	90	91					3																	52474045		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474045G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1213C>A	3.37:g.52474045G>T	ENSP00000231721:p.Leu405Met						p.L405M	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	11	1212	-			405			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1213C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749069	0.69533	.	.	ENSG00000010319	ENST00000231721	T	0.30981	1.51	5.13	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000005	T	0.62282	0.2415	M	0.92507	3.315	0.44024	D	0.996745	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8658	0.52493	0.1436:0.0:0.8564:0.0	.	405	Q9NS98	SEM3G_HUMAN	M	405	ENSP00000231721:L405M	ENSP00000231721:L405M	L	-	1	2	SEMA3G	52449085	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.265000	0.51561	0.732000	0.32470	0.561000	0.74099	CTG		0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		99	376	1	0	4.73232e-52	1	5.88258e-52	99	376					T	52474045	G	T	52474045	3	4	79	1	0	0	0	0	1	0	0	0	14080	962	34	3	1159	3	SEMA3G	3	52474045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25450	52474045	145548385	4202	14519											
SEMA3G	56920	broad.mit.edu	37	chr3	52475298	52475298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgcagacgcggcccacGcggctgacagtgacatggtt	13	14	0	3	rs546731714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52475298G>A	ENST00000231721.2	-	7	794	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGGCCCACGCGGCTGACAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.001					ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(793-795)cgC>cgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							62	48	52					3																	52475298		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475298G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.795C>T	3.37:g.52475298G>A							p.R265R	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	7	794	-			265			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.795C>T	CCDS2856.1																																																																																				0.612	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		7	385	0	0	0	1	0	7	385					A	52475298	G	A	52475298	2	1	79	1	0	0	0	0	0	0	0	1	14080	1074	38	1		1	SEMA3G	3	52475298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1253	52475298	145547132	4203	14520											
TNNC1	7134	broad.mit.edu	37	chr3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccatcatagtcgatgcGgccgtcgttgttcttgtctc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	TAGTCGATGCGGCCGTCGTTG	0.592																																						ENST00000232975.3																			1	Substitution - Missense(1)	p.R147C(1)	lung(1)	endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(439-441)Cgc>Tgc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						188	137	154					3																	52485422		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485422G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"EF-hand domain containing"	11943	protein-coding gene	gene with protein product		191040	"troponin C, slow"	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.439C>T	3.37:g.52485422G>A	ENSP00000232975:p.Arg147Cys						p.R147C	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	5	493	-			147			EF-hand 4.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.439C>T	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	TNNC1	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC		0.592	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			45	226	0	0	0	1	0	45	226					A	52485422	G	A	52485422	3	1	79	1	0	0	0	0	1	0	0	0	16376	1116	39	1	54	1	TNNC1	3	52485422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10124	52485422	145537008	4204	14521											
TNNC1	7134	broad.mit.edu	37	chr3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcgtcctccgtgatgGtctcgcctgtagcctgcagc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	127	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CTCCGTGATGGTCTCGCCTGT	0.587																																						ENST00000232975.3																			0				endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(379-381)aCc>aTc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						166	129	142					3																	52485481		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485481G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"EF-hand domain containing"	11943	protein-coding gene	gene with protein product		191040	"troponin C, slow"	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.380C>T	3.37:g.52485481G>A	ENSP00000232975:p.Thr127Ile						p.T127I	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	5	434	-			127			EF-hand 3.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.380C>T	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189317	0.57909	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	D;D	0.95171	-3.63;-3.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.192979	0.56097	N	0.000035	D	0.88735	0.6517	N	0.19112	0.55	0.50813	D	0.999896	B	0.10296	0.003	B	0.13407	0.009	T	0.83351	-0.0003	10	0.87932	D	0	.	10.7971	0.46466	0.0682:0.0:0.8012:0.1306	.	127	P63316	TNNC1_HUMAN	I	127;83	ENSP00000232975:T127I;ENSP00000420596:T83I	ENSP00000232975:T127I	T	-	2	0	TNNC1	52460521	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.917000	0.48821	0.697000	0.31718	0.561000	0.74099	ACC		0.587	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			61	253	0	0	0	1	0	61	253					A	52485481	G	A	52485481	3	1	79	1	0	0	0	0	1	0	0	0	16376	1261	44	2	113	2	TNNC1	3	52485481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	52485481	145536949	4205	14522											
NISCH	11188	broad.mit.edu	37	chr3	52514216	52514216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtggtgaagactcccGgctctcagctgccccctgca	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52514216G>A	ENST00000479054.1	+	14	1505	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000345716.4_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q			Q9Y2I1	NISCH_HUMAN	nischarin	478	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GAAGACTCCCGGCTCTCAGCT	0.637																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1432-1434)cGg>cAg		nischarin							80	77	78					3																	52514216		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52514216G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1433G>A	3.37:g.52514216G>A	ENSP00000418232:p.Arg478Gln					NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q|NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000479054.1_Missense_Mutation_p.R478Q	p.R478Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	13	1567	+			478			Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1433G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291776	0.59976	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08008	3.14;3.14;3.19;3.15	5.7	4.82	0.62117	.	0.218004	0.38837	N	0.001547	T	0.14874	0.0359	L	0.32530	0.975	0.33533	D	0.593874	D;B	0.76494	0.999;0.123	P;B	0.61275	0.886;0.008	T	0.17228	-1.0376	10	0.31617	T	0.26	-24.7556	11.7287	0.51724	0.1419:0.0:0.8581:0.0	.	478;478	Q9Y2I1;C9J715	NISCH_HUMAN;.	Q	478	ENSP00000418232:R478Q;ENSP00000339958:R478Q;ENSP00000417812:R478Q;ENSP00000392484:R478Q	ENSP00000339958:R478Q	R	+	2	0	NISCH	52489256	1.000000	0.71417	0.990000	0.47175	0.061000	0.15899	2.423000	0.44705	1.424000	0.47217	0.591000	0.81541	CGG		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		13	612	0	0	0	1	0	13	612					A	52514216	G	A	52514216	3	1	79	1	0	0	0	0	1	0	0	0	10474	1116	39	1	1483	1	NISCH	3	52514216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28735	52514216	145508214	4206	14523											
NISCH	11188	broad.mit.edu	37	chr3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctgagcacactgatcCggcaggccatcgagcggcag	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000479054.1	+	17	1903	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000345716.4_Missense_Mutation_p.R611W			Q9Y2I1	NISCH_HUMAN	nischarin	611	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CACACTGATCCGGCAGGCCAT	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1831-1833)Cgg>Tgg		nischarin							72	69	70					3																	52521339		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521339C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1831C>T	3.37:g.52521339C>T	ENSP00000418232:p.Arg611Trp					NISCH_ENST00000479054.1_Missense_Mutation_p.R611W	p.R611W	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	1965	+			611			Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1831C>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712228	0.30322	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.08370	3.1;3.1	5.57	3.62	0.41486	.	0.591513	0.17374	N	0.176564	T	0.09686	0.0238	N	0.19112	0.55	0.30804	N	0.739515	D	0.89917	1.0	P	0.58577	0.841	T	0.10497	-1.0627	10	0.52906	T	0.07	-16.6294	3.0479	0.06160	0.1943:0.5162:0.1954:0.0941	.	611	Q9Y2I1	NISCH_HUMAN	W	611	ENSP00000418232:R611W;ENSP00000339958:R611W	ENSP00000339958:R611W	R	+	1	2	NISCH	52496379	0.980000	0.34600	0.997000	0.53966	0.030000	0.12068	1.052000	0.30429	1.372000	0.46190	-0.145000	0.13849	CGG		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		105	508	0	0	0	1	0	105	508					T	52521339	C	T	52521339	3	4	79	1	0	0	0	0	1	0	0	0	10474	643	23	1	1893	1	NISCH	3	52521339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7123	52521339	145501091	4207	14524											
NISCH	11188	broad.mit.edu	37	chr3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtgctcaccgacttcGgcatcgcagtcttcgagatc	10	14	2	1	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000479054.1	+	17	2275	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000345716.4_Missense_Mutation_p.G735S			Q9Y2I1	NISCH_HUMAN	nischarin	735	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CACCGACTTCGGCATCGCAGT	0.617																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2203-2205)Ggc>Agc		nischarin		G	SER/GLY	0,4406	2.1+/-5.4	0,0,2203	99	84	89		2203	5.3	1	3	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NISCH	NM_007184.3	56	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	735/1505	52521711	6,13000	2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521711G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2203G>A	3.37:g.52521711G>A	ENSP00000418232:p.Gly735Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.G735S	p.G735S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2337	+			735			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2203G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044219	0.36085	0.0	6.98E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06528	3.29;3.29	5.3	5.3	0.74995	.	0.201961	0.41294	D	0.000916	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49153	-0.8969	10	0.16420	T	0.52	-33.4656	9.2809	0.37727	0.0755:0.2673:0.6572:0.0	.	735	Q9Y2I1	NISCH_HUMAN	S	735;735;79	ENSP00000418232:G735S;ENSP00000339958:G735S	ENSP00000339958:G735S	G	+	1	0	NISCH	52496751	0.976000	0.34144	0.990000	0.47175	0.906000	0.53458	2.376000	0.44292	2.499000	0.84300	0.555000	0.69702	GGC		0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	401	0	0	0	1	0	18	401					A	52521711	G	A	52521711	3	1	79	1	0	0	0	0	1	0	0	0	10474	1116	39	1	2265	1	NISCH	3	52521711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372	52521711	145500719	4208	14525											
NISCH	11188	broad.mit.edu	37	chr3	52521950	52521950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatgctttgcaccccaGcacatggccatgctgtgtag	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000479054.1	+	17	2514	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000345716.4_Silent_p.Q814Q			Q9Y2I1	NISCH_HUMAN	nischarin	814	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TTGCACCCCAGCACATGGCCA	0.612																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2440-2442)caG>caA		nischarin							44	37	39					3																	52521950		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521950G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2442G>A	3.37:g.52521950G>A						NISCH_ENST00000479054.1_Silent_p.Q814Q	p.Q814Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2576	+			814			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.2442G>A	CCDS33767.1																																																																																				0.612	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		43	153	0	0	0	1	0	43	153					A	52521950	G	A	52521950	2	1	79	1	0	0	0	0	0	0	0	1	10474	962	34	2		2	NISCH	3	52521950	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239	52521950	145500480	4209	14526											
NISCH	11188	broad.mit.edu	37	chr3	52526255	52526255	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgagtgctcatgggctaccaGacctacccgcaggccctcac	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000479054.1	+	22	4344	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000345716.4_Silent_p.Q1424Q			Q9Y2I1	NISCH_HUMAN	nischarin	1424					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGGGCTACCAGACCTACCCGC	0.652																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4270-4272)caG>caA		nischarin							112	109	110					3																	52526255		2203	4298	6501	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526255G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4272G>A	3.37:g.52526255G>A						NISCH_ENST00000479054.1_Silent_p.Q1424Q	p.Q1424Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4406	+			1424					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4272G>A	CCDS33767.1																																																																																				0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		235	921	0	0	0	1	0	235	921					A	52526255	G	A	52526255	2	1	79	1	0	0	0	0	0	0	0	1	10474	933	33	2		2	NISCH	3	52526255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4305	52526255	145496175	4210	14527											
STAB1	23166	broad.mit.edu	37	chr3	52538065	52538065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgcagggaaagcgaGgtgggggatgggcgtgcctg	22	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	ENST00000321725.6	+	10	1120	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	348					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGAAAGCGAGGTGGGGGATG	0.711																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1042-1044)gaG>gaT		stabilin 1							26	21	23					3																	52538065		2193	4290	6483	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538065G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1044G>T	3.37:g.52538065G>T	ENSP00000312946:p.Glu348Asp						p.E348D	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	10	1120	+			348					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1044G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688096	0.29962	.	.	ENSG00000010327	ENST00000321725	T	0.20069	2.1	4.7	2.85	0.33270	FAS1 domain (1);	0.144064	0.46758	D	0.000268	T	0.31482	0.0798	M	0.66939	2.045	0.33620	D	0.604698	P;D	0.56746	0.943;0.977	P;P	0.55749	0.459;0.783	T	0.44436	-0.9328	10	0.46703	T	0.11	.	6.6079	0.22735	0.2166:0.0:0.7834:0.0	.	348;348	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	D	348	ENSP00000312946:E348D	ENSP00000312946:E348D	E	+	3	2	STAB1	52513105	1.000000	0.71417	0.994000	0.49952	0.597000	0.36814	1.692000	0.37731	1.101000	0.41535	0.462000	0.41574	GAG		0.711	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		19	55	1	0	6.94344e-10	1	7.33246e-10	19	55					T	52538065	G	T	52538065	3	4	79	1	0	0	0	0	1	0	0	0	15289	991	35	3	1082	3	STAB1	3	52538065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11810	52538065	145484365	4211	14528											
STAB1	23166	broad.mit.edu	37	chr3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactatcggacagatcctcGcctctaccgaggccttcagc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	514	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGATCCTCGCCTCTACCGA	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1540-1542)Gcc>Acc		stabilin 1							51	50	50					3																	52539356		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539356G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1540G>A	3.37:g.52539356G>A	ENSP00000312946:p.Ala514Thr						p.A514T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	14	1616	+			514			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1540G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134423	0.56828	.	.	ENSG00000010327	ENST00000321725	T	0.72394	-0.65	5.36	4.47	0.54385	FAS1 domain (3);	0.220722	0.36740	N	0.002428	T	0.71290	0.3322	L	0.50993	1.605	0.37281	D	0.90782	B;D	0.61697	0.394;0.99	B;P	0.51297	0.078;0.665	T	0.73895	-0.3838	10	0.34782	T	0.22	.	12.5123	0.56013	0.0:0.0:0.8324:0.1676	.	514;514	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	514	ENSP00000312946:A514T	ENSP00000312946:A514T	A	+	1	0	STAB1	52514396	0.997000	0.39634	0.855000	0.33649	0.462000	0.32619	3.469000	0.53093	1.236000	0.43740	0.585000	0.79938	GCC		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		35	136	0	0	0	1	0	35	136					A	52539356	G	A	52539356	3	1	79	1	0	0	0	0	1	0	0	0	15289	1087	38	1	1594	1	STAB1	3	52539356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	52539356	145483074	4212	14529											
STAB1	23166	broad.mit.edu	37	chr3	52540865	52540865	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagcacaagattgtggCggtgagcctcgcctgcacgg	16	11	0	2	rs150932374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	663					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGATTGTGGCGGTGAGCCTC	0.647																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.e18+1		stabilin 1							59	53	55					3																	52540865		2203	4300	6503	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540865C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1989+1C>T	3.37:g.52540865C>T							p.A663_splice	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	18	2064	+			663					A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.1989_splice	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375587	0.24857	.	.	ENSG00000010327	ENST00000321725	D	0.84730	-1.89	4.43	-7.21	0.01490	.	1.696930	0.03084	N	0.158847	T	0.68668	0.3026	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.0;0.003	T	0.43861	-0.9365	10	0.13470	T	0.59	.	8.5153	0.33242	0.1101:0.2287:0.0:0.6612	.	663;663	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	663	ENSP00000312946:A663V	ENSP00000312946:A663V	A	+	2	0	STAB1	52515905	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.219000	0.01218	-1.598000	0.01607	-0.448000	0.05591	GCG		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	66	260	0	0	0	1	0	66	260					T	52540865	C	T	52540865	5	4	79	1	0	0	0	0	0	0	1	0	15289	782	27	1	2058	1	STAB1	3	52540865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1509	52540865	145481565	4213	14530											
STAB1	23166	broad.mit.edu	37	chr3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaaaggttttttcgGgcctgactgcacgcagtgtc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	726					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTTTTTCGGGCCTGACTGC	0.582																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2176-2178)gGg>gAg		stabilin 1							119	115	116					3																	52542317		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52542317G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2177G>A	3.37:g.52542317G>A	ENSP00000312946:p.Gly726Glu						p.G726E	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	21	2253	+			726					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2177G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027530	0.93518	.	.	ENSG00000010327	ENST00000321725	D	0.87029	-2.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96418	0.9309	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	726;726	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	726	ENSP00000312946:G726E	ENSP00000312946:G726E	G	+	2	0	STAB1	52517357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.247000	0.89830	2.697000	0.92050	0.563000	0.77884	GGG		0.582	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		71	359	0	0	0	1	0	71	359					A	52542317	G	A	52542317	3	1	79	1	0	0	0	0	1	0	0	0	15289	1232	43	2	2259	2	STAB1	3	52542317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1452	52542317	145480113	4214	14531											
STAB1	23166	broad.mit.edu	37	chr3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaacaagcatggagagCaatgccaggaaggtgggtgg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	779					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATGGAGAGCAATGCCAGGA	0.577																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2335-2337)Caa>Taa		stabilin 1							84	69	74					3																	52543325		2202	4300	6502	SO:0001587	stop_gained	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52543325C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2335C>T	3.37:g.52543325C>T	ENSP00000312946:p.Gln779*						p.Q779*	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	22	2411	+			779					A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	c.2335C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697297	0.96802	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.57	4.68	0.58851	.	0.551778	0.18049	N	0.153326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.8752	0.35340	0.2981:0.5574:0.1445:0.0	.	.	.	.	X	779	.	ENSP00000312946:Q779X	Q	+	1	0	STAB1	52518365	0.995000	0.38212	0.954000	0.39281	0.441000	0.31987	4.142000	0.58044	1.316000	0.45131	0.561000	0.74099	CAA		0.577	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		31	148	0	0	0	1	0	31	148					T	52543325	C	T	52543325	4	4	79	1	0	0	0	0	0	1	0	0	15289	711	25	2	2421	2	STAB1	3	52543325	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	52543325	145479105	4215	14532											
STAB1	23166	broad.mit.edu	37	chr3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctcccagctgcgtgcagGactcggccggagcctccacc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1433	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCGTGCAGGACTCGGCCGG	0.682																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4297-4299)Gac>Aac		stabilin 1							23	27	26					3																	52550718		2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550718G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4297G>A	3.37:g.52550718G>A	ENSP00000312946:p.Asp1433Asn						p.D1433N	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	41	4373	+			1433			EGF-like 10.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4297G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541032	0.00934	.	.	ENSG00000010327	ENST00000321725	T	0.02944	4.1	4.51	1.36	0.22044	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.333636	0.30979	N	0.008492	T	0.01940	0.0061	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49995	-0.8879	10	0.02654	T	1	.	7.1225	0.25453	0.3219:0.0:0.6781:0.0	.	1433	Q9NY15	STAB1_HUMAN	N	1433	ENSP00000312946:D1433N	ENSP00000312946:D1433N	D	+	1	0	STAB1	52525758	0.005000	0.15991	0.098000	0.21074	0.164000	0.22412	1.182000	0.32029	0.033000	0.15463	0.462000	0.41574	GAC		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	132	0	0	0	1	0	32	132					A	52550718	G	A	52550718	3	1	79	1	0	0	0	0	1	0	0	0	15289	1174	41	2	4459	2	STAB1	3	52550718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7393	52550718	145471712	4216	14533											
STAB1	23166	broad.mit.edu	37	chr3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccacagacgccgcctttcGagctctgcctccggatcgcc	10	19	1	1	rs369575212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1772	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCCTTTCGAGCTCTGCCT	0.627																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5314-5316)cGa>cAa		stabilin 1		G	GLN/ARG	0,4406		0,0,2203	56	58	57		5315	-8.2	0	3		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1772/2571	52554039	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554039G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5315G>A	3.37:g.52554039G>A	ENSP00000312946:p.Arg1772Gln						p.R1772Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	51	5391	+			1772			FAS1 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5315G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196156	0.01594	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.89617	-2.54	5.67	-8.25	0.01025	FAS1 domain (5);	1.077420	0.07224	N	0.861373	T	0.71056	0.3295	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65747	-0.6093	10	0.02654	T	1	.	18.2521	0.90007	0.3326:0.0:0.6674:0.0	.	1772	Q9NY15	STAB1_HUMAN	Q	1772	ENSP00000312946:R1772Q	ENSP00000312946:R1772Q	R	+	2	0	STAB1	52529079	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-0.792000	0.04594	-1.389000	0.02090	-1.008000	0.02478	CGA		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		35	222	0	0	0	1	0	35	222					A	52554039	G	A	52554039	3	1	79	1	0	0	0	0	1	0	0	0	15289	1058	37	1	5517	1	STAB1	3	52554039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3321	52554039	145468391	4217	14534											
STAB1	23166	broad.mit.edu	37	chr3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcgaagcacagggagccGtccttgcttcattccctcag	10	14	2	0	rs374832817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2236	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGAGCCGTCCTTGCTTC	0.617																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6706-6708)Gtc>Atc		stabilin 1		G	ILE/VAL	0,4404		0,0,2202	67	71	70		6706	4.9	0.3	3		70	2,8596	2.2+/-6.3	0,2,4297	no	missense	STAB1	NM_015136.2	29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign	2236/2571	52556666	2,13000	2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556666G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6706G>A	3.37:g.52556666G>A	ENSP00000312946:p.Val2236Ile						p.V2236I	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	61	6782	+			2236			Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6706G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660584	0.47572	0.0	2.33E-4	ENSG00000010327	ENST00000321725	T	0.30714	1.52	5.85	4.93	0.64822	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.903033	0.09601	N	0.780141	T	0.31040	0.0784	L	0.39514	1.22	0.09310	N	1	P;D	0.54772	0.862;0.968	B;P	0.45971	0.176;0.499	T	0.09530	-1.0670	10	0.39692	T	0.17	.	10.4845	0.44713	0.0728:0.1362:0.791:0.0	.	123;2236	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2236	ENSP00000312946:V2236I	ENSP00000312946:V2236I	V	+	1	0	STAB1	52531706	0.000000	0.05858	0.269000	0.24586	0.376000	0.30014	0.803000	0.27083	2.771000	0.95319	0.561000	0.74099	GTC		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		119	487	0	0	0	1	0	119	487					A	52556666	G	A	52556666	3	1	79	1	0	0	0	0	1	0	0	0	15289	1145	40	1	6948	1	STAB1	3	52556666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	52556666	145465764	4218	14535											
STAB1	23166	broad.mit.edu	37	chr3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcctactgcttccGtgtgcaaggtgtgtccaccc	12	13	0	0	rs184802643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2301	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCTTCCGTGTGCAAGGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6901-6903)cGt>cAt		stabilin 1							80	84	83					3																	52556948		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556948G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6902G>A	3.37:g.52556948G>A	ENSP00000312946:p.Arg2301His						p.R2301H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	62	6978	+			2301			Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6902G>A	CCDS33768.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.1	4.496293	0.85069	.	.	ENSG00000010327	ENST00000321725	T	0.31769	1.48	5.64	5.64	0.86602	C-type lectin fold (1);Link (2);C-type lectin-like (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86178	2.8	0.49687	D	0.999818	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.67461	-0.5665	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	188;2301	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2301	ENSP00000312946:R2301H	ENSP00000312946:R2301H	R	+	2	0	STAB1	52531988	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	5.696000	0.68287	2.661000	0.90470	0.486000	0.48141	CGT		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		78	397	0	0	0	1	0	78	397					A	52556948	G	A	52556948	3	1	79	1	0	0	0	0	1	0	0	0	15289	1145	40	1	7148	1	STAB1	3	52556948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	52556948	145465482	4219	14536											
NT5DC2	64943	broad.mit.edu	37	chr3	52558576	52558576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgcctcgtgctgcagCggcgtacggcgtgggtagaa	19	9	0	1	rs374723543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000459839.1_Silent_p.P503P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064). {ECO:0000305}.			hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1471-1473)ccG>ccA		5'-nucleotidase domain containing 2							73	71	72					3																	52558576		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52558576C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1473G>A	3.37:g.52558576C>T						NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000459839.1_Silent_p.P503P	p.P491P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	14	1873	-			491	P -> S (in Ref. 2; BAB14064).				C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.1473G>A	CCDS2858.1																																																																																				0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		82	391	0	0	0	1	0	82	391					T	52558576	C	T	52558576	2	4	79	1	0	0	0	0	0	0	0	1	10733	755	27	1		1	NT5DC2	3	52558576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	52558576	145463854	4220	14537											
NT5DC2	64943	broad.mit.edu	37	chr3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatggcccttacctgccGatagatcttgcccttttcca	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	335							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1003-1005)Cgg>Tgg		5'-nucleotidase domain containing 2							97	96	96					3																	52561315		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52561315G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1003C>T	3.37:g.52561315G>A	ENSP00000302468:p.Arg335Trp					NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	p.R335W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	10	1403	-			335					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1003C>T	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133453|4.133453	0.77662|0.77662	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839|ENST00000489316	T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92|.	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.052775|.	0.64402|.	D|.	0.000001|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.40543|0.40543	1.245|1.245	0.35708|0.35708	D|D	0.816193|0.816193	D;D;D|.	0.57899|.	0.981;0.981;0.981|.	P;B;B|.	0.56788|.	0.806;0.401;0.401|.	T|T	0.59037|0.59037	-0.7529|-0.7529	10|5	0.38643|.	T|.	0.18|.	-25.4436|-25.4436	12.4633|12.4633	0.55743|0.55743	0.0:0.0:0.7183:0.2817|0.0:0.0:0.7183:0.2817	.|.	347;335;372|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	W|L	276;49;335;372;347|256	ENSP00000306017:R276W;ENSP00000418780:R49W;ENSP00000302468:R335W;ENSP00000406933:R372W;ENSP00000419547:R347W|.	ENSP00000302468:R335W|.	R|S	-|-	1|2	2|0	NT5DC2|NT5DC2	52536355|52536355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	4.461000|4.461000	0.60115|0.60115	2.580000|2.580000	0.87095|0.87095	0.555000|0.555000	0.69702|0.69702	CGG|TCG		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		33	179	0	0	0	1	0	33	179					A	52561315	G	A	52561315	3	1	79	1	0	0	0	0	1	0	0	0	10733	1057	37	1	579	1	NT5DC2	3	52561315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2739	52561315	145461115	4221	14538											
NT5DC2	64943	broad.mit.edu	37	chr3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccaacaaaattcctctttCctgcgcagaaccgctctcca	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	NT5DC2_ENST00000307092.4_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000307106.3_5'Flank|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000476842.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000477703.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	10							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATTCCTCTTTCCTGCGCAGAA	0.592																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(28-30)Gaa>Taa		5'-nucleotidase domain containing 2							155	157	156					3																	52568642		2203	4300	6503	SO:0001587	stop_gained	64943						hydrolase activity|metal ion binding	g.chr3:52568642C>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.28G>T	3.37:g.52568642C>A	ENSP00000302468:p.Glu10*					SMIM4_ENST00000482728.1_3'UTR	p.E10*	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	1	428	-			10					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Nonsense_Mutation	SNP	ENST00000307076.4	37	c.28G>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477394	0.84640	.	.	ENSG00000168268	ENST00000307076	.	.	.	3.04	-1.54	0.08584	.	6.254030	0.01781	U	0.031789	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.7943	0.23717	0.0:0.3955:0.0:0.6045	.	.	.	.	X	10	.	ENSP00000302468:E10X	E	-	1	0	NT5DC2	52543682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.461000	0.02366	-0.387000	0.07809	-0.253000	0.11424	GAA		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		219	820	1	0	2.48479e-74	1	3.1658e-74	219	820					A	52568642	C	A	52568642	4	1	79	1	0	0	0	0	0	1	0	0	10733	864	30	3	1826	3	NT5DC2	3	52568642	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7327	52568642	145453788	4222	14539											
PBRM1	55193	broad.mit.edu	37	chr3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaatacagaggccacgcGaaccacaggcagaggcacat	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000296302.7	-	20	3287	c.3286C>T	c.(3286-3288)Cgc>Tgc	p.R1096C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C			Q86U86	PB1_HUMAN	polybromo 1	1096					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3190-3192)Cgc>Tgc		polybromo 1							113	111	112					3																	52620542		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52620542G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3286C>T	3.37:g.52620542G>A	ENSP00000296302:p.Arg1096Cys					PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C	p.R1064C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	3192	-			1096			BAH 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3190C>T		.	.	.	.	.	.	.	.	.	.	G	19.01	3.743073	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.52754	0.8;0.68;0.83;0.83;0.81;0.71;1.27;0.84;0.8;0.65	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.995;0.992;0.995;0.989;0.997;0.995;0.995;0.993	T	0.66803	-0.5831	10	0.87932	D	0	-27.3744	15.1515	0.72703	0.0:0.0:0.8583:0.1417	.	1071;1095;1071;1096;1111;1111;1096;1064;1096	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	1064;1071;1096;1096;1096;1071;1111;1111;1095;1054	ENSP00000349213:R1064C;ENSP00000378307:R1071C;ENSP00000296302:R1096C;ENSP00000338302:R1096C;ENSP00000386593:R1096C;ENSP00000386529:R1071C;ENSP00000386643:R1111C;ENSP00000386601:R1111C;ENSP00000387775:R1095C;ENSP00000397662:R1054C	ENSP00000296302:R1096C	R	-	1	0	PBRM1	52595582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.608000	0.74168	2.493000	0.84123	0.555000	0.69702	CGC		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		126	468	0	0	0	1	0	126	468					A	52620542	G	A	52620542	3	1	79	1	0	0	0	0	1	0	0	0	11533	1058	37	1	1658	1	PBRM1	3	52620542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51900	52620542	145401888	4223	14540											
PBRM1	55193	broad.mit.edu	37	chr3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttgcagagttcatcacGaattttaataaaaaactgct	5	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000296302.7	-	17	2627	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2530-2532)Cgt>Tgt		polybromo 1							66	63	64					3																	52637690		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637690G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2626C>T	3.37:g.52637690G>A	ENSP00000296302:p.Arg876Cys					PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C	p.R844C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2532	-			876			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2530C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60920	0.16;0.2;0.15;0.16;0.17;0.17;0.63;0.17;0.21;0.28	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:0.0:1.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844C;ENSP00000378307:R876C;ENSP00000296302:R876C;ENSP00000338302:R876C;ENSP00000386593:R876C;ENSP00000386529:R876C;ENSP00000386643:R891C;ENSP00000386601:R891C;ENSP00000387775:R876C;ENSP00000397662:R835C	ENSP00000296302:R876C	R	-	1	0	PBRM1	52612730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.850000	0.98022	0.650000	0.86243	CGT		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	159	0	0	0	1	0	30	159					A	52637690	G	A	52637690	3	1	79	1	0	0	0	0	1	0	0	0	11533	1058	37	1	2330	1	PBRM1	3	52637690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	52637690	145384740	4224	14541											
ITIH1	3697	broad.mit.edu	37	chr3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctggatgcccaggccTctttcctgccgaaggaactg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	210					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCCAGGCCTCTTTCCTGCC	0.483																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(628-630)Tct>Gct		inter-alpha-trypsin inhibitor heavy chain 1							41	42	42					3																	52814339		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52814339T>G		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.628T>G	3.37:g.52814339T>G	ENSP00000273283:p.Ser210Ala					ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	p.S210A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	6	652	+			210					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.628T>G	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360543	0.61403	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.84;4.72	6.07	-4.65	0.03339	.	0.193262	0.53938	D	0.000043	T	0.03827	0.0108	M	0.69823	2.125	0.80722	D	1	B	0.30542	0.284	B	0.36845	0.234	T	0.33111	-0.9881	10	0.66056	D	0.02	-15.0808	4.8638	0.13598	0.3522:0.3161:0.0:0.3317	.	210	P19827	ITIH1_HUMAN	A	210;210;68	ENSP00000442584:S210A;ENSP00000273283:S210A;ENSP00000443973:S68A	ENSP00000273283:S210A	S	+	1	0	ITIH1	52789379	0.887000	0.30362	0.992000	0.48379	0.710000	0.40934	0.402000	0.20965	-0.299000	0.08909	-0.274000	0.10170	TCT		0.483	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		33	133	0	0	0	1	0	33	133					G	52814339	T	G	52814339	3	3	79	1	0	0	0	0	1	0	0	0	7933	1551	54	4	650	4	ITIH1	3	52814339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176649	52814339	145208091	4225	14542											
ITIH3	3699	broad.mit.edu	37	chr3	52830660	52830660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcatcaccaacttcaCcttgtgggtaccaccatggc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52830660C>T	ENST00000449956.2	+	3	284	c.278C>T	c.(277-279)aCc>aTc	p.T93I	ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	93	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCAACTTCACCTTGTGGGTA	0.582																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(277-279)aCc>aTc		inter-alpha-trypsin inhibitor heavy chain 3							55	61	59					3																	52830660		2141	4280	6421	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52830660C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.278C>T	3.37:g.52830660C>T	ENSP00000415769:p.Thr93Ile					ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	3	284	+			93			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.278C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062182	0.76187	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23950	1.88;1.88	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.047355	0.85682	D	0.000000	T	0.40719	0.1128	L	0.45470	1.425	0.43242	D	0.995154	D;P	0.61080	0.989;0.902	P;P	0.61003	0.882;0.716	T	0.20739	-1.0266	10	0.66056	D	0.02	-28.0532	14.8603	0.70376	0.0:1.0:0.0:0.0	.	93;93	E7ET33;Q06033	.;ITIH3_HUMAN	I	93;93;88;93;93	ENSP00000413922:T93I;ENSP00000415769:T93I	ENSP00000273291:T88I	T	+	2	0	ITIH3	52805700	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.596000	0.36718	2.478000	0.83669	0.561000	0.74099	ACC		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	106	0	0	0	1	0	4	106					T	52830660	C	T	52830660	3	4	79	1	0	0	0	0	1	0	0	0	7935	507	18	2	288	2	ITIH3	3	52830660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16321	52830660	145191770	4226	14543											
ITIH3	3699	broad.mit.edu	37	chr3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggcacaagggcaagtAcgagatgtacctcaaggtcc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	167					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGGCAAGTACGAGATGTAC	0.562																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(499-501)tAc>tGc		inter-alpha-trypsin inhibitor heavy chain 3							47	54	52					3																	52831234		2103	4215	6318	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52831234A>G		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.500A>G	3.37:g.52831234A>G	ENSP00000415769:p.Tyr167Cys					ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	5	506	+			167					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.500A>G	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353441	0.82243	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.04156	3.69;4.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.91561	3.22	0.49389	D	0.999783	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08411	-1.0723	10	0.72032	D	0.01	-27.3236	13.0967	0.59197	1.0:0.0:0.0:0.0	.	167;167	E7ET33;Q06033	.;ITIH3_HUMAN	C	167;155;162;167;167	ENSP00000413922:Y167C;ENSP00000415769:Y167C	ENSP00000273291:Y162C	Y	+	2	0	ITIH3	52806274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.279000	0.76181	0.533000	0.62120	TAC		0.562	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		6	66	0	0	0	1	0	6	66					G	52831234	A	G	52831234	3	3	79	1	0	0	0	0	1	0	0	0	7935	391	14	4	518	4	ITIH3	3	52831234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	52831234	145191196	4227	14544											
TMEM110	375346	broad.mit.edu	37	chr3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgacaaagaaggggaCgatcagcatgacgatggcca	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877754C>T	ENST00000355083.5	-	6	746	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	201						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		AAGAAGGGGACGATCAGCATG	0.507																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(601-603)Gtc>Atc		transmembrane protein 110							190	167	175					3																	52877754		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52877754C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.601G>A	3.37:g.52877754C>T	ENSP00000347195:p.Val201Ile					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I	p.V201I	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	6	746	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.601G>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473451	0.84640	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	5.31	0.75309	.	0.145281	0.45126	U	0.000381	T	0.66790	0.2825	L	0.39692	1.235	0.80722	D	1	P;D	0.76494	0.797;0.999	B;D	0.79784	0.194;0.993	T	0.58752	-0.7581	9	0.09843	T	0.71	-14.7227	18.9788	0.92747	0.0:1.0:0.0:0.0	.	201;201	Q86TL2;A8MSY1	TM110_HUMAN;.	I	201	.	ENSP00000347195:V201I	V	-	1	0	TMEM110-MUSTN1;TMEM110	52852794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.491000	0.84063	0.561000	0.74099	GTC		0.507	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		10	433	0	0	0	1	0	10	433					T	52877754	C	T	52877754	3	4	79	1	0	0	0	0	1	0	0	0	16079	536	19	1	295	1	TMEM110	3	52877754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46520	52877754	145144676	4228	14545											
TMEM110	375346	broad.mit.edu	37	chr3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcagcatgacgatggccaGcttcaagtctgggttttcaa	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	194						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACGATGGCCAGCTTCAAGTCT	0.532																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(580-582)Ctg>Atg		transmembrane protein 110							178	157	164					3																	52877775		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52877775G>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.580C>A	3.37:g.52877775G>T	ENSP00000347195:p.Leu194Met					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M	p.L194M	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	6	725	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.580C>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328120	0.81690	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	4.44	0.53790	.	0.000000	0.64402	U	0.000003	T	0.81074	0.4747	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84463	0.0595	9	0.72032	D	0.01	-7.9897	14.0255	0.64584	0.073:0.0:0.927:0.0	.	194;194	Q86TL2;A8MSY1	TM110_HUMAN;.	M	194	.	ENSP00000347195:L194M	L	-	1	2	TMEM110-MUSTN1;TMEM110	52852815	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	2.107000	0.41844	1.242000	0.43836	0.561000	0.74099	CTG		0.532	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		79	339	1	0	5.00163e-47	1	6.15206e-47	79	339					T	52877775	G	T	52877775	3	4	79	1	0	0	0	0	1	0	0	0	16079	962	34	3	316	3	TMEM110	3	52877775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	52877775	145144655	4229	14546											
SFMBT1	51460	broad.mit.edu	37	chr3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctcactgcagtgatgGtagcaacacacacttcttca	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	405					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGCAGTGATGGTAGCAACACA	0.493																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1213-1215)aCc>aTc		Scm-like with four mbt domains 1							178	172	174					3																	52955765		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52955765G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1214C>T	3.37:g.52955765G>A	ENSP00000378235:p.Thr405Ile					SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I|SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I	p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	11	1596	-			405					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1214C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333359	0.81801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	.	0.053289	0.85682	D	0.000000	T	0.77968	0.4210	M	0.93720	3.45	0.58432	D	0.999999	P;D	0.57257	0.948;0.979	P;P	0.58660	0.66;0.843	T	0.83142	-0.0108	10	0.62326	D	0.03	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	405;405	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	405	ENSP00000378235:T405I;ENSP00000350789:T405I;ENSP00000296295:T405I;ENSP00000378233:T405I	ENSP00000296295:T405I	T	-	2	0	SFMBT1	52930805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	ACC		0.493	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		181	774	0	0	0	1	0	181	774					A	52955765	G	A	52955765	3	1	79	1	0	0	0	0	1	0	0	0	14207	1261	44	2	1430	2	SFMBT1	3	52955765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77990	52955765	145066665	4230	14547											
PRKCD	5580	broad.mit.edu	37	chr3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagagtactttgccAtcaaggccctcaagaaggat	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTACTTTGCCATCAAGGCCCT	0.597																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1129-1131)Atc>Gtc		protein kinase C, delta							106	94	98					3																	53220225		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220225A>G		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1129A>G	3.37:g.53220225A>G	ENSP00000378217:p.Ile377Val					PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	12	1457	+		Ovarian(412;0.0728)	377			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1129A>G	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.23147	1.92;1.92	5.15	-5.74	0.02391	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.337088	0.34853	N	0.003637	T	0.10594	0.0259	N	0.12611	0.24	0.25272	N	0.989504	B	0.10296	0.003	B	0.12837	0.008	T	0.24584	-1.0156	10	0.06099	T	0.92	.	16.4546	0.84008	0.4405:0.0:0.5595:0.0	.	377	Q05655	KPCD_HUMAN	V	377	ENSP00000378217:I377V;ENSP00000331602:I377V	ENSP00000331602:I377V	I	+	1	0	PRKCD	53195265	0.000000	0.05858	0.005000	0.12908	0.697000	0.40408	-0.023000	0.12456	-1.520000	0.01773	-1.431000	0.01090	ATC		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	184	0	0	0	1	0	8	184					G	53220225	A	G	53220225	3	3	79	1	0	0	0	0	1	0	0	0	12556	217	8	4	1171	4	PRKCD	3	53220225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264460	53220225	144802205	4231	14548											
TKT	7086	broad.mit.edu	37	chr3	53265481	53265481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatcttctttttgctctgGatctggctgtagatctcctg	10	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423516.1_Silent_p.I286I|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	278					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TTTTGCTCTGGATCTGGCTGT	0.552																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(832-834)atC>atT		transketolase	Thiamine(DB00152)						159	130	140					3																	53265481		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53265481G>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.834C>T	3.37:g.53265481G>A						TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I	p.I278I			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	7	922	-		Prostate(884;0.0959)	278					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.834C>T	CCDS2871.1																																																																																				0.552	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			51	223	0	0	0	1	0	51	223					A	53265481	G	A	53265481	2	1	79	1	0	0	0	0	0	0	0	1	15986	1164	41	2		2	TKT	3	53265481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45256	53265481	144756949	4232	14549											
TKT	7086	broad.mit.edu	37	chr3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggggcttcccatgccaaGactccttatcttctacccct	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	256					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCCATGCCAAGACTCCTTATC	0.562																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(766-768)tCt>tAt		transketolase	Thiamine(DB00152)						94	83	87					3																	53265548		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53265548G>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.767C>A	3.37:g.53265548G>T	ENSP00000417773:p.Ser256Tyr					TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y	p.S256Y			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	7	855	-		Prostate(884;0.0959)	256					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.767C>A	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	4.436	0.080646	0.08533	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.69	2.94	0.34122	Transketolase, N-terminal (1);	1.130530	0.06411	N	0.720678	T	0.39911	0.1096	M	0.70842	2.15	0.09310	N	1	P;B;B	0.36354	0.549;0.014;0.014	B;B;B	0.43478	0.421;0.043;0.027	T	0.37572	-0.9700	10	0.72032	D	0.01	-11.315	4.1666	0.10310	0.0692:0.2428:0.3554:0.3326	.	264;173;256	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	Y	256;256;264;209;90	ENSP00000417773:S256Y;ENSP00000405455:S256Y;ENSP00000391481:S264Y;ENSP00000296289:S209Y	ENSP00000296289:S209Y	S	-	2	0	TKT	53240588	0.959000	0.32827	0.268000	0.24571	0.036000	0.12997	1.633000	0.37113	0.346000	0.23899	-0.122000	0.15005	TCT		0.562	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			38	195	1	0	8.69298e-16	1	9.51602e-16	38	195					T	53265548	G	T	53265548	3	4	79	1	0	0	0	0	1	0	0	0	15986	942	33	3	1136	3	TKT	3	53265548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	53265548	144756882	4233	14550											
CACNA1D	776	broad.mit.edu	37	chr3	53529248	53529248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaacggcagcagcaagcgGaccacgcgaacggtgagcag	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000350061.5	+	1	566	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N|CACNA1D_ENST00000288139.4_Missense_Mutation_p.D19N	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	19					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCAAGCGGACCACGCGAA	0.587																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(55-57)Gac>Aac		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						76	79	78					3																	53529248		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529248G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.55G>A	3.37:g.53529248G>A	ENSP00000288133:p.Asp19Asn					CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D19N	p.D19N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	173	+			19					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.55G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014042	0.75161	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.95853	-3.81;-3.83;-3.83	4.12	4.12	0.48240	.	.	.	.	.	D	0.89684	0.6786	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30889	0.198;0.198;0.299	B;B;B	0.23574	0.021;0.021;0.047	D	0.87873	0.2672	9	0.35671	T	0.21	.	12.0575	0.53544	0.0:0.0:1.0:0.0	.	19;19;19	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	N	19	ENSP00000288133:D19N;ENSP00000288139:D19N;ENSP00000409174:D19N	ENSP00000288139:D19N	D	+	1	0	CACNA1D	53504288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	2.286000	0.76751	0.555000	0.69702	GAC		0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		26	558	0	0	0	1	0	26	558					A	53529248	G	A	53529248	3	1	79	1	0	0	0	0	1	0	0	0	2548	1174	41	2	57	2	CACNA1D	3	53529248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263700	53529248	144493182	4234	14551											
CACNA1D	776	broad.mit.edu	37	chr3	53684805	53684805	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctttgtttttcttcacaGgaaaaagtagaatatgcctt	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000350061.5	+	4	994		c.e4-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e4-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						100	97	98					3																	53684805		2203	4299	6502	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53684805G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.484-1G>T	3.37:g.53684805G>T						CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	601	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37		CCDS46848.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.393114	0.83011	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53659845	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.647000	0.98478	2.545000	0.85829	0.436000	0.28706	.		0.358	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron	52	359	1	0	6.3008e-33	1	7.45475e-33	52	359					T	53684805	G	T	53684805	5	4	79	1	0	0	0	0	0	0	1	0	2548	1014	35	3	497	3	CACNA1D	3	53684805	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155557	53684805	144337625	4235	14552											
CACNA1D	776	broad.mit.edu	37	chr3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaactccattataaaaGccatggttcccctccttcac	4	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000350061.5	+	6	1310	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	267					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(799-801)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						138	139	139					3																	53699719		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53699719G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.799G>A	3.37:g.53699719G>A	ENSP00000288133:p.Ala267Thr					CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A267T	p.A267T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	6	917	+			267					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.799G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234915	0.95207	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98512	-4.97;-4.97;-4.97	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.99819	1.1046	10	0.87932	D	0	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	267;267;267	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	267	ENSP00000288133:A267T;ENSP00000288139:A267T;ENSP00000409174:A267T	ENSP00000288139:A267T	A	+	1	0	CACNA1D	53674759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	GCC		0.333	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		83	455	0	0	0	1	0	83	455					A	53699719	G	A	53699719	3	1	79	1	0	0	0	0	1	0	0	0	2548	971	34	2	821	2	CACNA1D	3	53699719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14914	53699719	144322711	4236	14553											
CACNA1D	776	broad.mit.edu	37	chr3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactgccaatggcacggAatgtaggagtggctgggttg	17	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000350061.5	+	7	1506	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(994-996)gAa>gCa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						218	209	212					3																	53700441		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53700441A>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.995A>C	3.37:g.53700441A>C	ENSP00000288133:p.Glu332Ala					CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E332A	p.E332A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	1113	+			332					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.995A>C	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791494|2.791494	0.50102|0.50102	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.96200|.	-3.91;-3.94;-3.93;-3.91|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Ion transport (1);|.	0.157207|.	0.44902|.	D|.	0.000420|.	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36837|.	0.571;0.068;0.321|.	P;B;B|.	0.46208|.	0.507;0.102;0.281|.	T|T	0.72603|0.72603	-0.4243|-0.4243	10|5	0.32370|.	T|.	0.25|.	.|.	10.5953|10.5953	0.45333|0.45333	0.8565:0.0:0.0:0.1435|0.8565:0.0:0.0:0.1435	.|.	332;332;332|.	B0FYA3;Q01668;Q01668-2|.	.;CAC1D_HUMAN;.|.	A|H	332;332;332;5|18	ENSP00000288133:E332A;ENSP00000288139:E332A;ENSP00000409174:E332A;ENSP00000418014:E5A|.	ENSP00000288139:E332A|.	E|N	+|+	2|1	0|0	CACNA1D|CACNA1D	53675481|53675481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.768000|3.768000	0.55295|0.55295	2.215000|2.215000	0.71742|0.71742	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		179	883	0	0	0	1	0	179	883					C	53700441	A	C	53700441	3	2	79	1	0	0	0	0	1	0	0	0	2548	246	9	4	1021	4	CACNA1D	3	53700441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	722	53700441	144321989	4237	14554											
CACNA1D	776	broad.mit.edu	37	chr3	53837449	53837449	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctctctcccaactgcaGgtccgactcaggagatgaac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000350061.5	+	44	5946		c.e44-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e45-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						109	109	109					3																	53837449		2203	4300	6503	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837449G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5436-1G>A	3.37:g.53837449G>A						CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5613	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37		CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056143	0.76074	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1563	0.81670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53812489	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.308000	0.89966	2.318000	0.78349	0.637000	0.83480	.		0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron	133	511	0	0	0	1	0	133	511					A	53837449	G	A	53837449	5	1	79	1	0	0	0	0	0	0	1	0	2548	1014	35	2	5781	2	CACNA1D	3	53837449	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137008	53837449	144184981	4238	14555											
CHDH	55349	broad.mit.edu	37	chr3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttgggatggcaggaAatggaactggatgtccgggt	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	402					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1204-1206)Ttc>Gtc		choline dehydrogenase	Choline(DB00122)						69	74	72					3																	53853618		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53853618A>C	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1204T>G	3.37:g.53853618A>C	ENSP00000319851:p.Phe402Val						p.F402V	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	7	1641	-		Hepatocellular(537;0.152)	402					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1204T>G	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744510	0.89663	.	.	ENSG00000016391	ENST00000315251	T	0.46819	0.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.84585	2.705	0.80722	D	1	P	0.52316	0.952	P	0.55965	0.788	T	0.74426	-0.3669	10	0.87932	D	0	-31.5137	15.4005	0.74838	1.0:0.0:0.0:0.0	.	402	Q8NE62	CHDH_HUMAN	V	402	ENSP00000319851:F402V	ENSP00000319851:F402V	F	-	1	0	CHDH	53828658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.943000	0.92975	2.063000	0.61619	0.460000	0.39030	TTC		0.627	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		81	291	0	0	0	1	0	81	291					C	53853618	A	C	53853618	3	2	79	1	0	0	0	0	1	0	0	0	3342	14	1	4	592	4	CHDH	3	53853618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16169	53853618	144168812	4239	14556											
ACTR8	93973	broad.mit.edu	37	chr3	53907062	53907062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacctataagttacctgCagtttttcatctcctaatcg	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000335754.3	-	9	1258	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	386					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AAGTTACCTGCAGTTTTTCAT	0.428																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1156-1158)ctG>ctA		ARP8 actin-related protein 8 homolog (yeast)							72	68	69					3																	53907062		2203	4300	6503	SO:0001819	synonymous_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53907062C>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1158G>A	3.37:g.53907062C>T						ACTR8_ENST00000231909.7_Silent_p.L91L|ACTR8_ENST00000482349.1_Silent_p.L275L	p.L386L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	9	1258	-			386					B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	c.1158G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873383	0.17322	.	.	ENSG00000113812	ENST00000486794	.	.	.	6.08	0.688	0.18027	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.7611	4.623	0.12465	0.0736:0.3076:0.4198:0.199	.	.	.	.	Y	140	.	.	C	-	2	0	ACTR8	53882102	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.989000	0.29629	0.455000	0.26910	-0.203000	0.12734	TGC		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		14	58	0	0	0	1	0	14	58					T	53907062	C	T	53907062	2	4	79	1	0	0	0	0	0	0	0	1	217	697	25	2		2	ACTR8	3	53907062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53444	53907062	144115368	4240	14557											
ACTR8	93973	broad.mit.edu	37	chr3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtggattaacatacAaggcctagaaaaggaggagg	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000335754.3	-	5	615	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	172					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTAACATACAAGGCCTAGAA	0.413																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(514-516)tTg>tCg		ARP8 actin-related protein 8 homolog (yeast)							44	47	46					3																	53911410		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53911410A>G		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.515T>C	3.37:g.53911410A>G	ENSP00000336842:p.Leu172Ser					ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S	p.L172S	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	5	615	-			172					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.515T>C	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392418	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.46819	0.86;0.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74945	-0.3491	10	0.35671	T	0.21	-0.0941	15.0492	0.71854	1.0:0.0:0.0:0.0	.	172	Q9H981	ARP8_HUMAN	S	172;61;61	ENSP00000336842:L172S;ENSP00000419429:L61S	ENSP00000336842:L172S	L	-	2	0	ACTR8	53886450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.923000	0.92808	2.288000	0.76882	0.528000	0.53228	TTG		0.413	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		35	175	0	0	0	1	0	35	175					G	53911410	A	G	53911410	3	3	79	1	0	0	0	0	1	0	0	0	217	131	5	4	1395	4	ACTR8	3	53911410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	53911410	144111020	4241	14558											
CACNA2D3	55799	broad.mit.edu	37	chr3	54420803	54420803	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgatgcagacttacaggTaactgattatagtttgagtt	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GACTTACAGGTAACTGATTAT	0.383																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.e4+2		calcium channel, voltage-dependent, alpha 2/delta subunit 3							90	91	91					3																	54420803		1870	4109	5979	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54420803T>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.381+2T>C	3.37:g.54420803T>C						CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site		NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	4	429	+								B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	37		CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049840	0.75846	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.203	0.54337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	54395843	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.994000	0.63901	2.199000	0.70637	0.533000	0.62120	.		0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Intron	18	51	0	0	0	1	0	18	51					C	54420803	T	C	54420803	5	2	79	1	0	0	0	0	0	0	1	0	2557	1652	57	4	397	4	CACNA2D3	3	54420803	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509393	54420803	143601627	4242	14559											
CACNA2D3	55799	broad.mit.edu	37	chr3	55021769	55021769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaattgctaacaatgggCtcctttaaaaggtaagggtt	9	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000415676.2_Silent_p.G893G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	893						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TAACAATGGGCTCCTTTAAAA	0.398																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2677-2679)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							125	120	121					3																	55021769		1820	4079	5899	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55021769C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2679C>T	3.37:g.55021769C>T						CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000288197.5_Silent_p.G893G	p.G893G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	31	2727	+			893					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2679C>T	CCDS54598.1																																																																																				0.398	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			25	119	0	0	0	1	0	25	119					T	55021769	C	T	55021769	2	4	79	1	0	0	0	0	0	0	0	1	2557	784	28	2		2	CACNA2D3	3	55021769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600966	55021769	143000661	4243	14560											
CACNA2D3	55799	broad.mit.edu	37	chr3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcccttaagtgtgaacGtctaaaggcccagaagatca	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1042						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGTGTGAACGTCTAAAGGCC	0.423																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(3124-3126)cGt>cAt		calcium channel, voltage-dependent, alpha 2/delta subunit 3							87	86	86					3																	55107828		1901	4127	6028	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55107828G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3125G>A	3.37:g.55107828G>A	ENSP00000419101:p.Arg1042His					CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H	p.R1042H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	37	3173	+			1042					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.3125G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190546	0.94923	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.66378	2.025	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	D	0.87183	0.2229	10	0.27082	T	0.32	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	1042	Q8IZS8	CA2D3_HUMAN	H	1042;1042;1042;948;949	ENSP00000389506:R1042H;ENSP00000419101:R1042H;ENSP00000288197:R1042H;ENSP00000417279:R948H	ENSP00000288197:R1042H	R	+	2	0	CACNA2D3	55082868	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.444000	0.97578	2.694000	0.91930	0.637000	0.83480	CGT		0.423	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			26	106	0	0	0	1	0	26	106					A	55107828	G	A	55107828	3	1	79	1	0	0	0	0	1	0	0	0	2557	1145	40	1	3271	1	CACNA2D3	3	55107828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86059	55107828	142914602	4244	14561											
WNT5A	7474	broad.mit.edu	37	chr3	55504170	55504170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcacttcttgcacttgaCgtagcagcaccagtggaact	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504170C>T	ENST00000474267.1	-	6	1614	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I|WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000493406.1_5'Flank			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592																																						ENST00000474267.1																			1	Substitution - Missense(1)	p.V458L(1)	urinary_tract(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1093-1095)Gtc>Atc		wingless-type MMTV integration site family, member 5A							88	90	89					3																	55504170		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504170C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1093G>A	3.37:g.55504170C>T	ENSP00000417310:p.Val365Ile					WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I	p.V365I			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1614	-			365					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1093G>A	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294609|5.294609	0.95546|0.95546	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93012|0.93012	0.7776|0.7776	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.93481|0.93481	0.6827|0.6827	6|10	0.87932|0.87932	D|D	0|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|365	.|P41221	.|WNT5A_HUMAN	H|I	97|365;365;276;350	.|ENSP00000417310:V365I;ENSP00000264634:V365I;ENSP00000420104:V350I	ENSP00000395272:R97H|ENSP00000264634:V365I	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479210|55479210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.813000|7.813000	0.86123|0.86123	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.592	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		17	434	0	0	0	1	0	17	434					T	55504170	C	T	55504170	3	4	79	1	0	0	0	0	1	0	0	0	17445	536	19	1	53	1	WNT5A	3	55504170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396342	55504170	142518260	4245	14562											
WNT5A	7474	broad.mit.edu	37	chr3	55504215	55504215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcgctccgtctgcaCggtcttgaactggtcgtagc	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504215C>T	ENST00000474267.1	-	6	1569	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	WNT5A_ENST00000497027.1_Missense_Mutation_p.V335M|WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M|WNT5A_ENST00000493406.1_5'Flank			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	350					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TCCGTCTGCACGGTCTTGAAC	0.612																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1048-1050)Gtg>Atg		wingless-type MMTV integration site family, member 5A							76	81	80					3																	55504215		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504215C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1048G>A	3.37:g.55504215C>T	ENSP00000417310:p.Val350Met					WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M|WNT5A_ENST00000497027.1_Missense_Mutation_p.V335M	p.V350M			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1569	-			350					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1048G>A	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.622040|2.622040	0.46840|0.46840	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.140717	.|0.50627	.|D	.|0.000108	T|T	0.75072|0.75072	0.3800|0.3800	L|L	0.55834|0.55834	1.745|1.745	0.37157|0.37157	D|D	0.902431|0.902431	.|P	.|0.38617	.|0.64	.|B	.|0.34301	.|0.179	T|T	0.79940|0.79940	-0.1591|-0.1591	6|10	0.49607|0.54805	T|T	0.09|0.06	.|.	19.7728|19.7728	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|350	.|P41221	.|WNT5A_HUMAN	H|M	82|350;350;261;335	.|ENSP00000417310:V350M;ENSP00000264634:V350M;ENSP00000420104:V335M	ENSP00000395272:R82H|ENSP00000264634:V350M	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479255|55479255	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.240000|3.240000	0.51368|0.51368	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.612	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		14	452	0	0	0	1	0	14	452					T	55504215	C	T	55504215	3	4	79	1	0	0	0	0	1	0	0	0	17445	536	19	1	98	1	WNT5A	3	55504215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	55504215	142518215	4246	14563											
WNT5A	7474	broad.mit.edu	37	chr3	55508452	55508452	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcgctcccgctcgcgGgcgtccacgaactccttggc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000497027.1_Silent_p.A184A|WNT5A_ENST00000264634.4_Silent_p.A199A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	199					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(595-597)gcC>gcA		wingless-type MMTV integration site family, member 5A							14	20	18					3																	55508452		2121	4263	6384	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508452G>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.597C>A	3.37:g.55508452G>T						WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A	p.A199A			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1118	-			199					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.597C>A	CCDS46850.1																																																																																				0.687	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		23	113	1	0	6.44725e-10	1	6.81304e-10	23	113					T	55508452	G	T	55508452	2	4	79	1	0	0	0	0	0	0	0	1	17445	1219	43	3		3	WNT5A	3	55508452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4237	55508452	142513978	4247	14564											
ERC2	26059	broad.mit.edu	37	chr3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaattgatgtactagtcGgtctttttcccgcttgaggg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	896						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTACTAGTCGGTCTTTTTCC	0.478																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2686-2688)Cga>Tga		ELKS/RAB6-interacting/CAST family member 2							107	101	103					3																	55768825		1871	4110	5981	SO:0001587	stop_gained	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55768825G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2686C>T	3.37:g.55768825G>A	ENSP00000288221:p.Arg896*						p.R896*	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	15	2941	-			896					Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	c.2686C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.845178	0.98976	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.67	3.77	0.43336	.	0.063683	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0675	7.1764	0.25747	0.0853:0.0:0.5892:0.3255	.	.	.	.	X	896	.	ENSP00000288221:R896X	R	-	1	2	ERC2	55743865	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.704000	0.68347	1.394000	0.46624	0.655000	0.94253	CGA		0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		22	141	0	0	0	1	0	22	141					A	55768825	G	A	55768825	4	1	79	1	0	0	0	0	0	1	0	0	5229	1124	39	1	199	1	ERC2	3	55768825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260373	55768825	142253605	4248	14565											
ERC2	26059	broad.mit.edu	37	chr3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctcttttcggaaggattCtatctcttctagtctttccc	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	616						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGAAGGATTCTATCTCTTCT	0.403																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(1846-1848)Gaa>Aaa		ELKS/RAB6-interacting/CAST family member 2							244	225	231					3																	56044551		1858	4099	5957	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56044551C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1846G>A	3.37:g.56044551C>T	ENSP00000288221:p.Glu616Lys						p.E616K	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	9	2101	-			616					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1846G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430625	0.83776	.	.	ENSG00000187672	ENST00000288221	T	0.50001	0.76	6.02	5.14	0.70334	.	0.094954	0.64402	D	0.000001	T	0.42810	0.1219	L	0.44542	1.39	0.48571	D	0.999677	B	0.26708	0.157	B	0.25140	0.058	T	0.22977	-1.0201	10	0.33940	T	0.23	-21.3003	16.7283	0.85429	0.1304:0.8695:0.0:0.0	.	616	O15083	ERC2_HUMAN	K	616	ENSP00000288221:E616K	ENSP00000288221:E616K	E	-	1	0	ERC2	56019591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.548000	0.49413	0.655000	0.94253	GAA		0.403	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		99	436	0	0	0	1	0	99	436					T	56044551	C	T	56044551	3	4	79	1	0	0	0	0	1	0	0	0	5229	922	32	2	1053	2	ERC2	3	56044551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275726	56044551	141977879	4249	14566											
ERC2	26059	broad.mit.edu	37	chr3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggcctggattgtcaaCtgtaggtgctgcaatgagaa	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	222						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGATTGTCAACTGTAGGTGCT	0.517																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(664-666)caG>caT		ELKS/RAB6-interacting/CAST family member 2							63	59	60					3																	56330455		2001	4171	6172	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330455C>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.666G>T	3.37:g.56330455C>A	ENSP00000288221:p.Gln222His						p.Q222H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	921	-			222					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.666G>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632651	0.47049	.	.	ENSG00000187672	ENST00000288221	T	0.54479	0.57	5.86	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.53729	1.69	0.44181	D	0.996993	D	0.62365	0.991	D	0.75484	0.986	T	0.60924	-0.7166	10	0.46703	T	0.11	-27.0337	10.2316	0.43258	0.0:0.7198:0.0:0.2802	.	222	O15083	ERC2_HUMAN	H	222	ENSP00000288221:Q222H	ENSP00000288221:Q222H	Q	-	3	2	ERC2	56305495	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.649000	0.46656	0.496000	0.27904	0.650000	0.86243	CAG		0.517	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		56	213	1	0	5.82388e-19	1	6.47979e-19	56	213					A	56330455	C	A	56330455	3	1	79	1	0	0	0	0	1	0	0	0	5229	564	20	3	2257	3	ERC2	3	56330455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285904	56330455	141691975	4250	14567											
ERC2	26059	broad.mit.edu	37	chr3	56468991	56468991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacgaggggatctggaAgggctaccttccagattggt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	15						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGATCTGGAAGGGCTACCTT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(43-45)ccT>ccC		ELKS/RAB6-interacting/CAST family member 2							105	99	101					3																	56468991		1901	4124	6025	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468991A>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.45T>C	3.37:g.56468991A>G							p.P15P	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	300	-			15					Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.45T>C	CCDS46851.1																																																																																				0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		33	186	0	0	0	1	0	33	186					G	56468991	A	G	56468991	2	3	79	1	0	0	0	0	0	0	0	1	5229	59	3	4		4	ERC2	3	56468991	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138536	56468991	141553439	4251	14568											
CCDC66	285331	broad.mit.edu	37	chr3	56653485	56653485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgttcgaacaaatgagatCtattaccttgatcccgatgc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	855					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAATGAGATCTATTACCTTG	0.378																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(2563-2565)atC>atT		coiled-coil domain containing 66							102	111	108					3																	56653485		2203	4300	6503	SO:0001819	synonymous_variant	285331							g.chr3:56653485C>T	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2565C>T	3.37:g.56653485C>T						CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	p.I855I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	16	2635	+			855					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.2565C>T	CCDS46852.1																																																																																				0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		92	351	0	0	0	1	0	92	351					T	56653485	C	T	56653485	2	4	79	1	0	0	0	0	0	0	0	1	2845	903	32	2		2	CCDC66	3	56653485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184494	56653485	141368945	4252	14569											
C3orf63	23272	broad.mit.edu	37	chr3	56667861	56667861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcatcctcagtggtgccCtttagtgtgtctgtaaatgg	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56667861C>A	ENST00000493960.2	-	18	2968	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	FAM208A_ENST00000355628.5_Missense_Mutation_p.K925N|FAM208A_ENST00000431842.2_Missense_Mutation_p.K549N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	986							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CAGTGGTGCCCTTTAGTGTGT	0.537																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1645-1647)aaG>aaT		family with sequence similarity 208, member A							46	42	43					3																	56667861		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667861C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2958G>T	3.37:g.56667861C>A	ENSP00000417509:p.Lys986Asn					FAM208A_ENST00000493960.2_Missense_Mutation_p.K986N|FAM208A_ENST00000355628.5_Missense_Mutation_p.K925N	p.K549N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	2571	-			986					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1647G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708249	0.48412	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.16073	2.38;2.37;2.76	5.62	2.78	0.32641	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.48642	1.525	0.32880	D	0.510381	P;P;D;D	0.89917	0.909;0.865;1.0;0.995	P;P;D;P	0.74023	0.455;0.519;0.982;0.829	T	0.32188	-0.9916	10	0.38643	T	0.18	-16.7564	10.9266	0.47195	0.0:0.7829:0.0:0.2171	.	986;925;549;986	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	N	549;986;925	ENSP00000399410:K549N;ENSP00000417509:K986N;ENSP00000347845:K925N	ENSP00000347845:K925N	K	-	3	2	C3orf63	56642901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.510000	0.35790	0.813000	0.34350	0.650000	0.86243	AAG		0.537	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		35	142	1	0	1.45844e-13	1	1.57644e-13	35	142					A	56667861	C	A	56667861	3	1	79	1	0	0	0	0	1	0	0	0	2246	680	24	3	2142	3	C3orf63	3	56667861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14376	56667861	141354569	4253	14570											
IL17RD	54756	broad.mit.edu	37	chr3	57132156	57132156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctgctgccctgtcgCgtgtgctgccccggctcctg	11	17	1	0	rs373484847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	525					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCCCTGTCGCGTGTGCTGCC	0.572																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1573-1575)acG>acA		interleukin 17 receptor D							74	65	68					3																	57132156		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132156C>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1575G>A	3.37:g.57132156C>T						IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000463523.1_Silent_p.T381T	p.T525T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1663	-			525					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1575G>A	CCDS2880.2																																																																																				0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		35	166	0	0	0	1	0	35	166					T	57132156	C	T	57132156	2	4	79	1	0	0	0	0	0	0	0	1	7672	755	27	1		1	IL17RD	3	57132156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464295	57132156	140890274	4254	14571											
HESX1	8820	broad.mit.edu	37	chr3	57232919	57232919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgggtgatccaccacGctagggaatgaaatcccact	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000295934.3	-	2	255	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000473921.1_Silent_p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	73					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATCCACCACGCTAGGGAATG	0.393																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	ENST00000295934.3																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7						c.(217-219)agC>agT		HESX homeobox 1							185	208	200					3																	57232919		2203	4300	6503	SO:0001819	synonymous_variant	8820					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:57232919G>A	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.219C>T	3.37:g.57232919G>A						HESX1_ENST00000473921.1_Silent_p.S73S	p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)	2	255	-			73					Q52LC5|Q99667	Silent	SNP	ENST00000295934.3	37	c.219C>T	CCDS2881.1																																																																																				0.393	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2			276	1194	0	0	0	1	0	276	1194					A	57232919	G	A	57232919	2	1	79	1	0	0	0	0	0	0	0	1	7102	1078	38	1		1	HESX1	3	57232919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100763	57232919	140789511	4255	14572											
APPL1	26060	broad.mit.edu	37	chr3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttttggatttgttcttCggacatcaagcgggagaagt	12	7	2	1	rs576774339		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	589	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATTTGTTCTTCGGACATCAAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		12955	0.0		0.001	False		,,,				2504	0.0					ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1765-1767)Cgg>Tgg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							197	194	195					3																	57294725		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57294725C>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1765C>T	3.37:g.57294725C>T	ENSP00000288266:p.Arg589Trp						p.R589W	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	19	1912	+			589			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1765C>T	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810490	0.90707	.	.	ENSG00000157500	ENST00000288266	T	0.12255	2.7	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.133459	0.51477	D	0.000085	T	0.30293	0.0760	L	0.54323	1.7	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	P;P	0.62089	0.854;0.898	T	0.00912	-1.1517	10	0.87932	D	0	.	14.9148	0.70789	0.152:0.848:0.0:0.0	.	572;589	B4DQX8;Q9UKG1	.;DP13A_HUMAN	W	589	ENSP00000288266:R589W	ENSP00000288266:R589W	R	+	1	2	APPL1	57269765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.511000	0.84671	0.650000	0.86243	CGG		0.393	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		164	827	0	0	0	1	0	164	827					T	57294725	C	T	57294725	3	4	79	1	0	0	0	0	1	0	0	0	817	875	31	1	1839	1	APPL1	3	57294725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61806	57294725	140727705	4256	14573											
DNAH12	201625	broad.mit.edu	37	chr3	57493472	57493472	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagagatttataaccttTggataccatgtattcattat	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000351747.2	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000311202.6_Silent_p.P265P|DNAH12_ENST00000389536.4_Silent_p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	265	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(793-795)ccA>ccC		dynein, axonemal, heavy chain 12							163	154	157					3																	57493472		2203	4299	6502	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493472T>G	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.795A>C	3.37:g.57493472T>G						DNAH12_ENST00000389536.4_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P	p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			8	975	-			265			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.795A>C																																																																																					0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		86	332	0	0	0	1	0	86	332					G	57493472	T	G	57493472	2	3	79	1	0	0	0	0	0	0	0	1	4616	1799	63	4		4	DNAH12	3	57493472	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198747	57493472	140528958	4257	14574											
DNAH12	201625	broad.mit.edu	37	chr3	57494904	57494904	+	Missense_Mutation	SNP	G	G	A													aggacctccttcatcttcaaGcgatttaactggtggtttca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494904G>A	ENST00000351747.2	-	6	685	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	DNAH12_ENST00000311202.6_Missense_Mutation_p.L169F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L169F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	169	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCATCTTCAAGCGATTTAACT	0.308																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(505-507)Ctt>Ttt		dynein, axonemal, heavy chain 12							83	84	84					3																	57494904		2203	4299	6502	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57494904G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.505C>T	3.37:g.57494904G>A	ENSP00000295937:p.Leu169Phe					DNAH12_ENST00000389536.4_Missense_Mutation_p.L169F|DNAH12_ENST00000311202.6_Missense_Mutation_p.L169F	p.L169F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			6	685	-			169			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.505C>T		.	.	.	.	.	.	.	.	.	.	G	18.36	3.607305	0.66558	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.26957	1.88;1.7;3.07;2.57	5.68	5.68	0.88126	.	0.214824	0.33854	N	0.004484	T	0.44582	0.1300	L	0.36672	1.1	0.80722	D	1	B;D	0.76494	0.418;0.999	B;D	0.85130	0.132;0.997	T	0.19712	-1.0297	10	0.51188	T	0.08	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	169;169	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	F	169	ENSP00000295937:L169F;ENSP00000418137:L169F;ENSP00000374187:L169F;ENSP00000312554:L169F	ENSP00000312554:L169F	L	-	1	0	DNAH12	57469944	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.582000	0.60957	2.698000	0.92095	0.585000	0.79938	CTT		0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		10	388	0	0	0	1	0	10	388					A	57494904	G	A	57494904	3	1	79	1	0	0	0	0	1	0	0	0	4616	971	34	2	9032	2	DNAH12	3	57494904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1432	57494904	140527526	4258	14575	89	2									
DNAH12	201625	broad.mit.edu	37	chr3	57494905	57494905	+	Silent	SNP	C	C	T													ggacctccttcatcttcaagCgatttaactggtggtttcac					rs150553536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000311202.6_Silent_p.S168S|DNAH12_ENST00000389536.4_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(502-504)tcG>tcA		dynein, axonemal, heavy chain 12		C	,	1,4405	2.1+/-5.4	0,1,2202	84	85	85		504,504	5.7	1	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	168/3093,168/458	57494905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57494905C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.504G>A	3.37:g.57494905C>T						DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			6	684	-			168			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.504G>A																																																																																					0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		70	327	0	0	0	1	0	70	327					T	57494905	C	T	57494905	2	4	79	1	0	0	0	0	0	0	0	1	4616	755	27	1		1	DNAH12	3	57494905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	57494905	140527525	4259	14576	89	2									
DNAH12	201625	broad.mit.edu	37	chr3	57496520	57496520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttagatgctacttacccaAatatctcttcatgctgtttt	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000351747.2	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_ENST00000311202.6_Silent_p.L156L|DNAH12_ENST00000389536.4_Silent_p.L156L|RNU6-1181P_ENST00000384191.1_RNA	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	156	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(466-468)Ttg>Ctg		dynein, axonemal, heavy chain 12							133	115	121					3																	57496520		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57496520A>G	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.466T>C	3.37:g.57496520A>G						DNAH12_ENST00000389536.4_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L	p.L156L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			5	646	-			156			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.466T>C																																																																																					0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		45	249	0	0	0	1	0	45	249					G	57496520	A	G	57496520	2	3	79	1	0	0	0	0	0	0	0	1	4616	11	1	4		4	DNAH12	3	57496520	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1615	57496520	140525910	4260	14577											
ARF4	378	broad.mit.edu	37	chr3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatttcactgatggccataGcatttggcaaatcctgtttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000303436.6	-	5	665	c.398C>A	c.(397-399)gCt>gAt	p.A133D	ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000496292.1_Missense_Mutation_p.A106D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	133					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATGGCCATAGCATTTGGCAA	0.383																																						ENST00000303436.6																			0				large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(397-399)gCt>gAt		ADP-ribosylation factor 4							114	105	108					3																	57561333		2203	4300	6503	SO:0001583	missense	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57561333G>T	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"ADP-ribosylation factors"	655	protein-coding gene	gene with protein product		601177	"ADP-ribosylation factor 2"	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.398C>A	3.37:g.57561333G>T	ENSP00000306010:p.Ala133Asp					ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000496292.1_Missense_Mutation_p.A106D	p.A133D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	5	665	-			133					B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	37	c.398C>A	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608893	0.96637	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.69435	-0.4;-0.4	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.94091	0.7353	10	0.87932	D	0	-11.9416	20.5269	0.99230	0.0:0.0:1.0:0.0	.	106;133	C9JAK5;P18085	.;ARF4_HUMAN	D	133;106	ENSP00000306010:A133D;ENSP00000417501:A106D	ENSP00000306010:A133D	A	-	2	0	ARF4	57536373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.859000	0.98148	0.591000	0.81541	GCT		0.383	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660		65	279	1	0	8.52622e-23	1	9.66497e-23	65	279					T	57561333	G	T	57561333	3	4	79	1	0	0	0	0	1	0	0	0	846	971	34	3	152	3	ARF4	3	57561333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64813	57561333	140461097	4261	14578											
FAM116A	201627	broad.mit.edu	37	chr3	57616552	57616552	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcttaattgaggtggactCtagaaaacaggacatataat	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57616552C>A	ENST00000311128.5	-	17	1478		c.e17-1		RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A						positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGGTGGACTCTAGAAAACAG	0.338																																						ENST00000311128.5																			0											c.e17-1		DENN/MADD domain containing 6A							67	68	67					3																	57616552		2201	4300	6501	SO:0001630	splice_region_variant	201627							g.chr3:57616552C>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1408-1G>T	3.37:g.57616552C>A						RP11-755B10.2_ENST00000470427.1_RNA		NM_152678.2	NP_689891.1					17	1478	-								Q7Z5T4|Q8N235|Q8TEG8	Splice_Site	SNP	ENST00000311128.5	37		CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641785	0.67244	.	.	ENSG00000174839	ENST00000311128;ENST00000471531	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116A	57591592	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.658000	0.61497	2.822000	0.97130	0.557000	0.71058	.		0.338	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Intron	46	168	1	0	2.00842e-17	1	2.21757e-17	46	168					A	57616552	C	A	57616552	5	1	79	1	0	0	0	0	0	0	1	0	5428	927	32	3	435	3	FAM116A	3	57616552	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55219	57616552	140405878	4262	14579											
FLNB	2317	broad.mit.edu	37	chr3	58084521	58084521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtggaagacaaaggaAaccaggtgtatcgatgtgtg	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	ENST00000295956.4	+	8	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000357272.4_Missense_Mutation_p.N411D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	411					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACAAAGGAAACCAGGTGTA	0.522																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(1231-1233)Aac>Gac		filamin B, beta							272	229	243					3																	58084521		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58084521A>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1231A>G	3.37:g.58084521A>G	ENSP00000295956:p.Asn411Asp					FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000295956.4_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D	p.N411D			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	8	1396	+			411					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.1231A>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	4.688	0.127874	0.08981	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;T;T;D;D;D;T;D	0.89196	-2.48;0.31;0.31;-2.48;-2.48;-2.48;0.31;-2.48	5.28	4.09	0.47781	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.171248	0.64402	D	0.000006	T	0.68559	0.3014	N	0.01431	-0.87	0.40536	D	0.980972	B;B;B;B;B;B	0.16603	0.001;0.001;0.018;0.0;0.003;0.008	B;B;B;B;B;B	0.20184	0.008;0.013;0.028;0.008;0.013;0.02	T	0.64630	-0.6362	10	0.02654	T	1	.	11.6375	0.51213	0.8666:0.0:0.0:0.1334	.	411;411;242;242;411;411	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	411;411;411;411;411;411;242;242	ENSP00000295956:N411D;ENSP00000420213:N411D;ENSP00000351339:N411D;ENSP00000415599:N411D;ENSP00000232447:N411D;ENSP00000349819:N411D;ENSP00000418510:N242D;ENSP00000414532:N242D	ENSP00000295956:N411D	N	+	1	0	FLNB	58059561	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.523000	0.53488	0.917000	0.36895	0.459000	0.35465	AAC		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		13	466	0	0	0	1	0	13	466					G	58084521	A	G	58084521	3	3	79	1	0	0	0	0	1	0	0	0	5959	14	1	4	1261	4	FLNB	3	58084521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	467969	58084521	139937909	4263	14580											
DNASE1L3	1776	broad.mit.edu	37	chr3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggccttcttggggaCgtagctgcagccggcattga	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000394549.2	-	6	905	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	197					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TTCTTGGGGACGTAGCTGCAG	0.512																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(589-591)Gtc>Atc		deoxyribonuclease I-like 3							91	87	89					3																	58183663		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58183663C>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.589G>A	3.37:g.58183663C>T	ENSP00000378053:p.Val197Ile					DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I	p.V197I			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	8	1170	-			197					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.589G>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553054	0.86127	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.25	4.38	0.52667	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.73329	0.3573	M	0.90759	3.145	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79964	-0.1581	10	0.72032	D	0.01	.	14.0276	0.64594	0.0:0.9276:0.0:0.0724	.	167;197;197	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	167;197;197;197;71;197	ENSP00000419052:V167I;ENSP00000316193:V197I;ENSP00000417047:V197I;ENSP00000417976:V71I;ENSP00000378053:V197I	ENSP00000316193:V197I	V	-	1	0	DNASE1L3	58158703	0.805000	0.28982	0.965000	0.40720	0.994000	0.84299	1.597000	0.36729	1.461000	0.47929	0.591000	0.81541	GTC		0.512	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		42	195	0	0	0	1	0	42	195					T	58183663	C	T	58183663	3	4	79	1	0	0	0	0	1	0	0	0	4679	536	19	1	340	1	DNASE1L3	3	58183663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99142	58183663	139838767	4264	14581											
ABHD6	57406	broad.mit.edu	37	chr3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccttccaggtactggCggaggacattgggcatgcaa	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	43					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(127-129)Cgg>Tgg		abhydrolase domain containing 6							167	153	158					3																	58252923		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58252923C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.127C>T	3.37:g.58252923C>T	ENSP00000420315:p.Arg43Trp					ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W	p.R43W			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	4	628	+			43					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.127C>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088007	0.76642	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.91237	-1.5;-1.5;-2.81;-2.81	5.27	4.39	0.52855	.	0.051922	0.85682	D	0.000000	D	0.94660	0.8278	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74674	0.913;0.984	D	0.95078	0.8210	10	0.87932	D	0	-24.8984	14.9548	0.71104	0.144:0.856:0.0:0.0	.	43;43	Q9BV23;F5H7L1	ABHD6_HUMAN;.	W	43	ENSP00000420315:R43W;ENSP00000295962:R43W;ENSP00000420408:R43W;ENSP00000418934:R43W	ENSP00000295962:R43W	R	+	1	2	ABHD6	58227963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.755000	0.38379	1.202000	0.43218	0.555000	0.69702	CGG		0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		100	453	0	0	0	1	0	100	453					T	58252923	C	T	58252923	3	4	79	1	0	0	0	0	1	0	0	0	86	759	27	1	133	1	ABHD6	3	58252923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69260	58252923	139769507	4265	14582											
ABHD6	57406	broad.mit.edu	37	chr3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatttgtacaacggctcaaaGaactgcagggctctgccgcc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	190					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(568-570)Gaa>Taa		abhydrolase domain containing 6							94	93	93					3																	58260429		2203	4300	6503	SO:0001587	stop_gained	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58260429G>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.568G>T	3.37:g.58260429G>T	ENSP00000420315:p.Glu190*					ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*	p.E190*			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	7	1069	+			190					B2R7Y9|Q6ZMF7	Nonsense_Mutation	SNP	ENST00000478253.1	37	c.568G>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357571	0.98235	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	.	.	.	5.88	4.99	0.66335	.	0.228966	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.5841	15.9067	0.79436	0.0:0.0:0.8635:0.1365	.	.	.	.	X	190	.	ENSP00000295962:E190X	E	+	1	0	ABHD6	58235469	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	8.955000	0.93058	1.444000	0.47605	0.655000	0.94253	GAA		0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		74	376	1	0	3.37205e-40	1	4.08638e-40	74	376					T	58260429	G	T	58260429	4	4	79	1	0	0	0	0	0	1	0	0	86	943	33	3	586	3	ABHD6	3	58260429	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7506	58260429	139762001	4266	14583											
PXK	54899	broad.mit.edu	37	chr3	58383343	58383343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagacattggaaagTgtggatgtccactgctttgg	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000356151.2	+	11	1105	c.996T>C	c.(994-996)agT>agC	p.S332S	PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000463280.1_Silent_p.S299S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000302779.5_Silent_p.S315S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATTGGAAAGTGTGGATGTCC	0.542																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(895-897)agT>agC		PX domain containing serine/threonine kinase							196	176	182					3																	58383343		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58383343T>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.996T>C	3.37:g.58383343T>C						PXK_ENST00000356151.2_Silent_p.S332S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000484288.1_Silent_p.S332S	p.S299S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	9	988	+			332			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.897T>C	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352609	0.24512	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.52	-2.33	0.06724	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-15.6095	8.5718	0.33574	0.0:0.3656:0.104:0.5303	.	.	.	.	A	87	.	.	V	+	2	0	PXK	58358383	0.883000	0.30277	0.998000	0.56505	0.971000	0.66376	-0.103000	0.10940	-0.030000	0.13804	0.460000	0.39030	GTG		0.542	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		166	731	0	0	0	1	0	166	731					C	58383343	T	C	58383343	2	2	79	1	0	0	0	0	0	0	0	1	12899	1693	59	4		4	PXK	3	58383343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122914	58383343	139639087	4267	14584											
PXK	54899	broad.mit.edu	37	chr3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaagaaagattttagctCgaaaggtaagcctgctgtct	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000356151.2	+	15	1499	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000463280.1_Nonsense_Mutation_p.R431*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1291-1293)Cga>Tga		PX domain containing serine/threonine kinase							38	37	37					3																	58395340		2202	4299	6501	SO:0001587	stop_gained	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395340C>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1390C>T	3.37:g.58395340C>T	ENSP00000348472:p.Arg464*					PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*	p.R431*			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	13	1382	+			464			Protein kinase.			Nonsense_Mutation	SNP	ENST00000356151.2	37	c.1291C>T	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.792770|7.792770	0.98492|0.98492	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660|ENST00000536750	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65842	.|0.2730	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.08381|.	T|.	0.77|.	-9.0252|-9.0252	14.5269|14.5269	0.67894|0.67894	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|.	.|.	.|.	X|L	464;447;431;431;447;464;447;327|326	.|.	ENSP00000305045:R447X|.	R|S	+|+	1|2	2|0	PXK|PXK	58370380|58370380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.316000|2.316000	0.43761|0.43761	2.759000|2.759000	0.94783|0.94783	0.643000|0.643000	0.83706|0.83706	CGA|TCG		0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		27	126	0	0	0	1	0	27	126					T	58395340	C	T	58395340	4	4	79	1	0	0	0	0	0	1	0	0	12899	876	31	1	1448	1	PXK	3	58395340	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11997	58395340	139627090	4268	14585											
KCTD6	200845	broad.mit.edu	37	chr3	58486991	58486991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctttgtatcccatggatActtttgaagaagttgtggag	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	ENST00000355076.6	+	2	1329	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A|KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	116					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCCCATGGATACTTTTGAAGA	0.418																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(346-348)Act>Gct		potassium channel tetramerization domain containing 6							112	105	107					3																	58486991		2203	4300	6503	SO:0001583	missense	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486991A>G	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 6"			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.346A>G	3.37:g.58486991A>G	ENSP00000347188:p.Thr116Ala					KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A|KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A	p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1329	+			116					B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	c.346A>G	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	A	4.125	0.021343	0.08006	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.59906	0.23;0.23;0.23	5.75	4.59	0.56863	.	0.047779	0.85682	D	0.000000	T	0.33177	0.0854	N	0.08118	0	0.43603	D	0.995964	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.09084	T	0.74	.	11.8039	0.52143	0.9314:0.0:0.0686:0.0	.	116	Q8NC69	KCTD6_HUMAN	A	116	ENSP00000384948:T116A;ENSP00000417490:T116A;ENSP00000347188:T116A	ENSP00000347188:T116A	T	+	1	0	KCTD6	58462031	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	1.002000	0.39104	-0.290000	0.09829	ACT		0.418	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		25	433	0	0	0	1	0	25	433					G	58486991	A	G	58486991	3	3	79	1	0	0	0	0	1	0	0	0	8143	391	14	4	352	4	KCTD6	3	58486991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91651	58486991	139535439	4269	14586											
KCTD6	200845	broad.mit.edu	37	chr3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtttcctttacttttgGaccctgtgattatcaccagg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E|KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	180					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTTACTTTTGGACCCTGTGAT	0.438																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(538-540)gGa>gAa		potassium channel tetramerization domain containing 6							99	94	96					3																	58487184		2203	4300	6503	SO:0001583	missense	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58487184G>A	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 6"			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.539G>A	3.37:g.58487184G>A	ENSP00000347188:p.Gly180Glu					KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E	p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1522	+			180					B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	c.539G>A	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104352	0.56291	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.73681	-0.77;-0.77;-0.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.54275	-0.8318	10	0.36615	T	0.2	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	180	Q8NC69	KCTD6_HUMAN	E	180	ENSP00000384948:G180E;ENSP00000417490:G180E;ENSP00000347188:G180E	ENSP00000347188:G180E	G	+	2	0	KCTD6	58462224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.591000	0.81541	GGA		0.438	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		71	300	0	0	0	1	0	71	300					A	58487184	G	A	58487184	3	1	79	1	0	0	0	0	1	0	0	0	8143	1174	41	2	545	2	KCTD6	3	58487184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193	58487184	139535246	4270	14587											
ACOX2	8309	broad.mit.edu	37	chr3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgttctcaccctcgTaggtacaggaggccgacaat	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000302819.5	-	10	1598	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	436					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1306-1308)tAc>tGc		acyl-CoA oxidase 2, branched chain							78	62	68					3																	58512232		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58512232T>C	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1307A>G	3.37:g.58512232T>C	ENSP00000307697:p.Tyr436Cys					ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	p.Y436C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	10	1598	-			436					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1307A>G	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794993	0.50208	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.74737	-0.87;-0.87	4.26	3.08	0.35506	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.100654	0.43747	D	0.000538	D	0.88905	0.6564	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.89965	0.4089	10	0.87932	D	0	-24.8706	10.3272	0.43801	0.1475:0.0:0.0:0.8524	.	436	Q99424	ACOX2_HUMAN	C	422;436	ENSP00000418562:Y422C;ENSP00000307697:Y436C	ENSP00000307697:Y436C	Y	-	2	0	ACOX2	58487272	1.000000	0.71417	0.718000	0.30602	0.353000	0.29299	5.629000	0.67798	0.782000	0.33613	0.459000	0.35465	TAC		0.602	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			35	140	0	0	0	1	0	35	140					C	58512232	T	C	58512232	3	2	79	1	0	0	0	0	1	0	0	0	159	1638	57	4	762	4	ACOX2	3	58512232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25048	58512232	139510198	4271	14588											
FAM3D	131177	broad.mit.edu	37	chr3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttacttggtccctggatCgtcgtaggaggccaccagca	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	149					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507																																						ENST00000358781.2																			0				large_intestine(1)|lung(2)	3						c.(445-447)Gat>Aat		family with sequence similarity 3, member D							71	67	68					3																	58622881		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58622881C>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.445G>A	3.37:g.58622881C>T	ENSP00000351632:p.Asp149Asn						p.D149N	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	8	755	-			149					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.445G>A	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870487	0.91587	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857	T;T;T	0.50001	1.94;1.13;0.76	5.16	5.16	0.70880	.	0.066529	0.64402	D	0.000010	T	0.74450	0.3718	M	0.90542	3.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.80441	-0.1381	10	0.87932	D	0	-50.262	16.5175	0.84304	0.0:1.0:0.0:0.0	.	149	Q96BQ1	FAM3D_HUMAN	N	149;148;112	ENSP00000351632:D149N;ENSP00000417099:D148N;ENSP00000417453:D112N	ENSP00000351632:D149N	D	-	1	0	FAM3D	58597921	1.000000	0.71417	0.970000	0.41538	0.754000	0.42855	6.146000	0.71777	2.559000	0.86315	0.655000	0.94253	GAT		0.507	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		25	105	0	0	0	1	0	25	105					T	58622881	C	T	58622881	3	4	79	1	0	0	0	0	1	0	0	0	5584	884	31	1	241	1	FAM3D	3	58622881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110649	58622881	139399549	4272	14589											
C3orf67	200844	broad.mit.edu	37	chr3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggacgctgctcagccGgctgttgactgggaggaacg	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000482387.1	-	12	2009	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	C3orf67_ENST00000295966.7_Missense_Mutation_p.P512L			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	638										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGCTCAGCCGGCTGTTGACT	0.378																																						ENST00000295966.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1534-1536)cCg>cTg		chromosome 3 open reading frame 67							55	57	56					3																	58739540		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58739540G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1913C>T	3.37:g.58739540G>A	ENSP00000417122:p.Pro638Leu					C3orf67_ENST00000482387.1_Missense_Mutation_p.P638L	p.P512L	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	15	2038	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	504					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1535C>T		.	.	.	.	.	.	.	.	.	.	G	6.641	0.486807	0.12641	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.18016	2.27;2.24	5.77	5.77	0.91146	.	0.402448	0.25138	N	0.032848	T	0.18635	0.0447	L	0.36672	1.1	0.42549	D	0.993106	P;D	0.61080	0.802;0.989	B;P	0.48488	0.274;0.579	T	0.00314	-1.1824	10	0.54805	T	0.06	-4.0276	9.7198	0.40295	0.1216:0.0:0.8784:0.0	.	512;638	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	512;638	ENSP00000295966:P512L;ENSP00000417122:P638L	ENSP00000295966:P512L	P	-	2	0	C3orf67	58714580	0.226000	0.23696	0.513000	0.27749	0.514000	0.34195	3.925000	0.56484	2.885000	0.99019	0.650000	0.86243	CCG		0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		37	171	0	0	0	1	0	37	171					A	58739540	G	A	58739540	3	1	79	1	0	0	0	0	1	0	0	0	2248	1116	39	1	164	1	C3orf67	3	58739540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116659	58739540	139282890	4273	14590											
C3orf67	200844	broad.mit.edu	37	chr3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagtggacggctggcatgAtcggttatttttggacccaa	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000482387.1	-	5	607	c.511T>C	c.(511-513)Tca>Cca	p.S171P	C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S91P			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGCTGGCATGATCGGTTATTT	0.368																																						ENST00000472469.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(271-273)Tca>Cca		chromosome 3 open reading frame 67							118	111	113					3																	58855183		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58855183A>G	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.511T>C	3.37:g.58855183A>G	ENSP00000417122:p.Ser171Pro					RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000492031.1_RNA	p.S91P			Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	8	1109	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	171					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.271T>C		.	.	.	.	.	.	.	.	.	.	A	13.48	2.250966	0.39797	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.55052	0.54;0.54;0.54	5.85	3.21	0.36854	.	0.547984	0.17910	N	0.157884	T	0.45337	0.1337	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.011	T	0.39683	-0.9602	10	0.44086	T	0.13	-1.7827	5.7794	0.18297	0.7533:0.0:0.0873:0.1594	.	91;171	C9J3M8;Q6ZVT6-2	.;.	P	171;171;91	ENSP00000295966:S171P;ENSP00000417122:S171P;ENSP00000417271:S91P	ENSP00000295966:S171P	S	-	1	0	C3orf67	58830223	0.542000	0.26426	0.003000	0.11579	0.347000	0.29111	2.849000	0.48286	1.044000	0.40200	0.533000	0.62120	TCA		0.368	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		95	311	0	0	0	1	0	95	311					G	58855183	A	G	58855183	3	3	79	1	0	0	0	0	1	0	0	0	2248	333	12	4	1212	4	C3orf67	3	58855183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115643	58855183	139167247	4274	14591											
PTPRG	5793	broad.mit.edu	37	chr3	61989075	61989075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagctggtctacctggCagattcaaagctgagaaggt	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCTACCTGGCAGATTCAAAG	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(421-423)ggC>ggT		protein tyrosine phosphatase, receptor type, G							107	104	105					3																	61989075		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61989075C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.423C>T	3.37:g.61989075C>T						PTPRG_ENST00000295874.10_Silent_p.G141G	p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	4	800	+			141			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.423C>T	CCDS2895.1																																																																																				0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		89	343	0	0	0	1	0	89	343					T	61989075	C	T	61989075	2	4	79	1	0	0	0	0	0	0	0	1	12852	697	25	2		2	PTPRG	3	61989075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133892	61989075	136033355	4275	14592											
PTPRG	5793	broad.mit.edu	37	chr3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacttcttagaaaacCcactggggacagaagcctct	9	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	337					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAAACCCACTGGGGAC	0.448																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1009-1011)Cca>Tca		protein tyrosine phosphatase, receptor type, G							62	64	63					3																	62153813		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62153813C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1009C>T	3.37:g.62153813C>T	ENSP00000418112:p.Pro337Ser					PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	8	1386	+			337					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1009C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770178	0.90108	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51071	0.73;0.72	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	T	0.69967	-0.5001	10	0.72032	D	0.01	.	19.4228	0.94729	0.0:1.0:0.0:0.0	.	337;337	P23470-2;P23470	.;PTPRG_HUMAN	S	337	ENSP00000418112:P337S;ENSP00000295874:P337S	ENSP00000295874:P337S	P	+	1	0	PTPRG	62128853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.663000	0.90544	0.655000	0.94253	CCA		0.448	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		51	216	0	0	0	1	0	51	216					T	62153813	C	T	62153813	3	4	79	1	0	0	0	0	1	0	0	0	12852	623	22	2	1039	2	PTPRG	3	62153813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164738	62153813	135868617	4276	14593											
PTPRG	5793	broad.mit.edu	37	chr3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttaacagcatccttataCcaggagtaggaggaaagaca	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1142					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATCCTTATACCAGGAGTAGG	0.393																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3424-3426)Cca>Tca		protein tyrosine phosphatase, receptor type, G							127	120	123					3																	62259478		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62259478C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3424C>T	3.37:g.62259478C>T	ENSP00000418112:p.Pro1142Ser					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.P1142S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	23	3801	+			1142					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3424C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342343	0.81911	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52057	0.68;0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.72118	2.19	0.80722	D	1	D;P;D	0.65815	0.995;0.952;0.992	P;P;P	0.62298	0.727;0.65;0.9	T	0.68550	-0.5379	10	0.72032	D	0.01	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	388;1113;1142	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1142;1113	ENSP00000418112:P1142S;ENSP00000295874:P1113S	ENSP00000295874:P1113S	P	+	1	0	PTPRG	62234518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	CCA		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		84	352	0	0	0	1	0	84	352					T	62259478	C	T	62259478	3	4	79	1	0	0	0	0	1	0	0	0	12852	507	18	2	3514	2	PTPRG	3	62259478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105665	62259478	135762952	4277	14594											
FEZF2	55079	broad.mit.edu	37	chr3	62356929	62356929	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccgcaaaattcgcagacGaagggcttgtagcccgcgtg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_ENST00000475839.1_Silent_p.F361F|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	361					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)			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)		ATTCGCAGACGAAGGGCTTGT	0.572																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1081-1083)ttC>ttT		FEZ family zinc finger 2							114	109	111					3																	62356929		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62356929G>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.1083C>T	3.37:g.62356929G>A						FEZF2_ENST00000475839.1_Silent_p.F361F|FEZF2_ENST00000486811.1_Silent_p.F361F	p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	4	1377	-		Lung SC(41;0.0262)	361					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1083C>T	CCDS2897.1																																																																																				0.572	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		55	473	0	0	0	1	0	55	473					A	62356929	G	A	62356929	2	1	79	1	0	0	0	0	0	0	0	1	5851	1049	37	1		1	FEZF2	3	62356929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97451	62356929	135665501	4278	14595											
FEZF2	55079	broad.mit.edu	37	chr3	62357998	62357998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgctgaggagctcagaCggcgggtacgcggtcgagtc	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_ENST00000475839.1_Silent_p.P182P|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	182					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)			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)		GGAGCTCAGACGGCGGGTACG	0.662																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(544-546)ccG>ccA		FEZ family zinc finger 2							17	23	21					3																	62357998		2200	4292	6492	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357998C>T	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.546G>A	3.37:g.62357998C>T						FEZF2_ENST00000475839.1_Silent_p.P182P|FEZF2_ENST00000486811.1_Silent_p.P182P	p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	840	-		Lung SC(41;0.0262)	182					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.546G>A	CCDS2897.1																																																																																				0.662	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		22	94	0	0	0	1	0	22	94					T	62357998	C	T	62357998	2	4	79	1	0	0	0	0	0	0	0	1	5851	523	19	1		1	FEZF2	3	62357998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1069	62357998	135664432	4279	14596											
CADPS	8618	broad.mit.edu	37	chr3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttacgttggtttagaagCctcggcctgatcagtctgta	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	438	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTTAGAAGCCTCGGCCTGA	0.453																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1312-1314)Gct>Act		Ca++-dependent secretion activator							213	201	205					3																	62631410		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62631410C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1312G>A	3.37:g.62631410C>T	ENSP00000373215:p.Ala438Thr					CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T	p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	6	1661	-		Lung SC(41;0.0452)	438			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1312G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910819	0.92178	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.877	D;D;B	0.76071	0.94;0.987;0.398	D	0.85985	0.1485	10	0.66056	D	0.02	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	438;438;438	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	438	ENSP00000373215:A438T;ENSP00000350632:A438T;ENSP00000283269:A438T;ENSP00000418736:A438T	ENSP00000283269:A438T	A	-	1	0	CADPS	62606450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.710000	0.92621	0.655000	0.94253	GCT		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		125	573	0	0	0	1	0	125	573					T	62631410	C	T	62631410	3	4	79	1	0	0	0	0	1	0	0	0	2577	739	26	2	2922	2	CADPS	3	62631410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273412	62631410	135391020	4280	14597											
SYNPR	132204	broad.mit.edu	37	chr3	63600932	63600932	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactttattctctgggcTggaaacatatggtttgtttt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000295894.5	+	5	942	c.573T>C	c.(571-573)gcT>gcC	p.A191A	SYNPR_ENST00000478300.1_Silent_p.A211A|SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000479198.1_3'UTR	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	191	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTCTGGGCTGGAAACATAT	0.398																																					NSCLC(29;1052 1116 20025 32519)	ENST00000478300.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(631-633)gcT>gcC		synaptoporin							44	40	41					3																	63600932		1825	4085	5910	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63600932T>C	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.573T>C	3.37:g.63600932T>C						SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000295894.5_Silent_p.A191A	p.A211A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	6	1044	+			191			5 X approximate repeats.		B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.633T>C	CCDS46860.1																																																																																				0.398	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			25	99	0	0	0	1	0	25	99					C	63600932	T	C	63600932	2	2	79	1	0	0	0	0	0	0	0	1	15511	1567	55	4		4	SYNPR	3	63600932	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969522	63600932	134421498	4281	14598											
THOC7	80145	broad.mit.edu	37	chr3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttggcgattttttcGtattcgttttgcttgaagaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(337-339)Cga>Tga		THO complex 7 homolog (Drosophila)							173	160	164					3																	63823667		2203	4299	6502	SO:0001587	stop_gained	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63823667G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.337C>T	3.37:g.63823667G>A	ENSP00000295899:p.Arg113*					THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	p.R113*	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	4	449	-			113			Interaction with NIF3L1.|Interaction with THOC5.		Q6P1L3|Q8WUF2|Q9H5H0	Nonsense_Mutation	SNP	ENST00000295899.5	37	c.337C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611060	0.87258	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	4.22	0.49857	.	0.061422	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6777	15.3019	0.73958	0.0:0.0:0.6366:0.3634	.	.	.	.	X	113	.	ENSP00000295899:R113X	R	-	1	2	THOC7	63798707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.828000	0.55753	0.825000	0.34637	0.655000	0.94253	CGA		0.328	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		94	465	0	0	0	1	0	94	465					A	63823667	G	A	63823667	4	1	79	1	0	0	0	0	0	1	0	0	15922	1153	40	1	297	1	THOC7	3	63823667	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222735	63823667	134198763	4282	14599											
ATXN7	6314	broad.mit.edu	37	chr3	63973863	63973863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggactctcagcaaccaccGcagcctctcagggacccgca	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63973863G>A	ENST00000295900.6	+	9	1774	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000398590.3_Silent_p.P408P|ATXN7_ENST00000487717.1_Silent_p.P408P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	408	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAACCACCGCAGCCTCTCA	0.517																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1222-1224)ccG>ccA		ataxin 7							120	136	131					3																	63973863		1957	4150	6107	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973863G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1224G>A	3.37:g.63973863G>A						ATXN7_ENST00000295900.6_Silent_p.P408P|ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000487717.1_Silent_p.P408P	p.P408P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1777	+		Prostate(884;0.0181)	408			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.1224G>A	CCDS43102.1																																																																																				0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		23	1383	0	0	0	1	0	23	1383					A	63973863	G	A	63973863	2	1	79	1	0	0	0	0	0	0	0	1	1216	1074	38	1		1	ATXN7	3	63973863	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150196	63973863	134048567	4283	14600											
ATXN7	6314	broad.mit.edu	37	chr3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaatgcacagcctgctgCttcaggggcgatggatcctg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000295900.6	+	12	2442	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	631					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAGCCTGCTGCTTCAGGGGCG	0.542																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1891-1893)gCt>gTt		ataxin 7							170	178	175					3																	63981390		2180	4273	6453	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981390C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1892C>T	3.37:g.63981390C>T	ENSP00000295900:p.Ala631Val					ATXN7_ENST00000295900.6_Missense_Mutation_p.A631V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V	p.A631V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2445	+		Prostate(884;0.0181)	631					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1892C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167233	0.21621	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	2.8	0.32819	.	0.627928	0.16530	N	0.210399	T	0.13200	0.0320	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.22730	-1.0208	10	0.42905	T	0.14	4.3154	6.6831	0.23131	0.0:0.5747:0.2973:0.1279	.	486;631;631	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	V	631;631;631;631;486	ENSP00000381590:A631V;ENSP00000295900:A631V;ENSP00000420234:A631V;ENSP00000439585:A631V;ENSP00000428277:A486V	ENSP00000295900:A631V	A	+	2	0	ATXN7	63956430	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	1.181000	0.32017	0.304000	0.22809	0.650000	0.86243	GCT		0.542	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		131	523	0	0	0	1	0	131	523					T	63981390	C	T	63981390	3	4	79	1	0	0	0	0	1	0	0	0	1216	797	28	2	1998	2	ATXN7	3	63981390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7527	63981390	134041040	4284	14601											
ATXN7	6314	broad.mit.edu	37	chr3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctcaacggtaacatcttCccatagcatcggcctcaact	5	17	3	0	rs562913625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000295900.6	+	12	2808	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	753	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTAACATCTTCCCATAGCATC	0.557																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2257-2259)tCc>tTc		ataxin 7							71	74	73					3																	63981756		2026	4199	6225	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981756C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2258C>T	3.37:g.63981756C>T	ENSP00000295900:p.Ser753Phe					ATXN7_ENST00000295900.6_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F	p.S753F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2811	+		Prostate(884;0.0181)	753			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.2258C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043594	0.75732	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.18960	2.18;2.22;2.22;2.18;2.2	4.78	4.78	0.61160	.	0.408743	0.27631	N	0.018516	T	0.32406	0.0828	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.50617	0.8;0.937;0.895	B;P;B	0.49999	0.424;0.628;0.424	T	0.03259	-1.1055	10	0.40728	T	0.16	-1.2999	18.2362	0.89950	0.0:1.0:0.0:0.0	.	608;753;753	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	753;753;753;753;608	ENSP00000381590:S753F;ENSP00000295900:S753F;ENSP00000420234:S753F;ENSP00000439585:S753F;ENSP00000428277:S608F	ENSP00000295900:S753F	S	+	2	0	ATXN7	63956796	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	7.191000	0.77763	2.383000	0.81215	0.650000	0.86243	TCC		0.557	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		15	438	0	0	0	1	0	15	438					T	63981756	C	T	63981756	3	4	79	1	0	0	0	0	1	0	0	0	1216	855	30	2	2364	2	ATXN7	3	63981756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63981756	134040674	4285	14602											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084844	64084844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtgcagcagctcatcGcttgtgacgtatcgcaggcg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	806					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGCTCATCGCTTGTGACGT	0.537																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2416-2418)agC>agT		prickle homolog 2 (Drosophila)							93	90	91					3																	64084844		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084844G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2418C>T	3.37:g.64084844G>A						RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	p.S806S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	3003	-		Lung NSC(201;0.136)	806					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2418C>T	CCDS2902.1																																																																																				0.537	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		97	441	0	0	0	1	0	97	441					A	64084844	G	A	64084844	2	1	79	1	0	0	0	0	0	0	0	1	12534	1078	38	1		1	PRICKLE2	3	64084844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103088	64084844	133937586	4286	14603											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085074	64085074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctctcctggaagctccGctggcgcataaattggtcat	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085074G>A	ENST00000295902.6	-	8	2773	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGAAGCTCCGCTGGCGCATA	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2188-2190)Cgg>Tgg		prickle homolog 2 (Drosophila)							45	49	47					3																	64085074		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085074G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2188C>T	3.37:g.64085074G>A	ENSP00000295902:p.Arg730Trp					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W	p.R730W	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2773	-		Lung NSC(201;0.136)	730			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2188C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773414	0.69992	.	.	ENSG00000163637	ENST00000295902	D	0.86627	-2.15	5.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.86142	0.5862	L	0.59436	1.845	0.58432	D	0.999996	D	0.71674	0.998	P	0.47528	0.549	D	0.87301	0.2305	10	0.87932	D	0	-39.0594	11.0923	0.48123	0.0:0.0:0.6028:0.3972	.	730	Q7Z3G6	PRIC2_HUMAN	W	730	ENSP00000295902:R730W	ENSP00000295902:R730W	R	-	1	2	PRICKLE2	64060114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.507000	0.53371	2.651000	0.90000	0.591000	0.81541	CGG		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		82	323	0	0	0	1	0	82	323					A	64085074	G	A	64085074	3	1	79	1	0	0	0	0	1	0	0	0	12534	1086	38	1	350	1	PRICKLE2	3	64085074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	64085074	133937356	4287	14604											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085153	64085153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagatggcctcgcgttcGctggccaggtggagggcgtt	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	703	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCGCGTTCGCTGGCCAGGT	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2107-2109)agC>agT		prickle homolog 2 (Drosophila)							43	46	45					3																	64085153		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085153G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2109C>T	3.37:g.64085153G>A						PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	p.S703S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2694	-		Lung NSC(201;0.136)	703			Arg-rich.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2109C>T	CCDS2902.1																																																																																				0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		84	316	0	0	0	1	0	84	316					A	64085153	G	A	64085153	2	1	79	1	0	0	0	0	0	0	0	1	12534	1078	38	1		1	PRICKLE2	3	64085153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	64085153	133937277	4288	14605											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085191	64085191	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcggagcgagagcgtcGggaacgcctggacctgtgag	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085191G>A	ENST00000295902.6	-	8	2656	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	691	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2071-2073)Cga>Tga		prickle homolog 2 (Drosophila)							43	47	46					3																	64085191		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085191G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2071C>T	3.37:g.64085191G>A	ENSP00000295902:p.Arg691*					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*	p.R691*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2656	-		Lung NSC(201;0.136)	691			Arg-rich.		Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.2071C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	44	10.967131	0.99496	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1652	13.9143	0.63887	0.0:0.0:0.7261:0.2739	.	.	.	.	X	691	.	ENSP00000295902:R691X	R	-	1	2	PRICKLE2	64060231	1.000000	0.71417	0.525000	0.27900	0.919000	0.55068	2.830000	0.48136	2.651000	0.90000	0.591000	0.81541	CGA		0.632	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		82	340	0	0	0	1	0	82	340					A	64085191	G	A	64085191	4	1	79	1	0	0	0	0	0	1	0	0	12534	1124	39	1	467	1	PRICKLE2	3	64085191	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	64085191	133937239	4289	14606											
PRICKLE2	166336	broad.mit.edu	37	chr3	64138976	64138976	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcactgtctcacactcGaagcagcaaaagtgtttcat	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	223	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCACACTCGAAGCAGCAAA	0.512																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(667-669)ttC>ttT		prickle homolog 2 (Drosophila)							161	142	149					3																	64138976		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64138976G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.669C>T	3.37:g.64138976G>A						PRICKLE2_ENST00000564377.1_Silent_p.F279F	p.F223F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1254	-		Lung NSC(201;0.136)	223			LIM zinc-binding 2.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.669C>T	CCDS2902.1																																																																																				0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		121	535	0	0	0	1	0	121	535					A	64138976	G	A	64138976	2	1	79	1	0	0	0	0	0	0	0	1	12534	1049	37	1		1	PRICKLE2	3	64138976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53785	64138976	133883454	4290	14607											
ADAMTS9	56999	broad.mit.edu	37	chr3	64536704	64536704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccacacacaccaccttgCggtacctggagccttcgccg	8	18	0	0	rs372066084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64536704C>A	ENST00000498707.1	-	31	5075	c.4733G>T	c.(4732-4734)cGc>cTc	p.R1578L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1550L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1578	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACCACCTTGCGGTACCTGGA	0.498																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4732-4734)cGc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							176	155	162					3																	64536704		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64536704C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4733G>T	3.37:g.64536704C>A	ENSP00000418735:p.Arg1578Leu					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1550L	p.R1578L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	31	5075	-		Lung NSC(201;0.00682)	1578			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4733G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.516896|5.516896	0.96416|0.96416	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.80824	.|-1.42;-1.42	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94663|0.94663	0.8279|0.8279	H|H	0.98936|0.98936	4.375|4.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.998	D|D	0.96322|0.96322	0.9237|0.9237	5|10	.|0.87932	.|D	.|0	.|.	20.1099|20.1099	0.97909|0.97909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1550;1578;1578	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	S|L	634|1550;1578	.|ENSP00000295903:R1550L;ENSP00000418735:R1578L	.|ENSP00000295903:R1550L	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64511744|64511744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.969000|6.969000	0.76092|0.76092	2.753000|2.753000	0.94483|0.94483	0.585000|0.585000	0.79938|0.79938	GCA|CGC		0.498	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			10	735	1	0	0.000442599	1	0.000448314	10	735					A	64536704	C	A	64536704	3	1	79	1	0	0	0	0	1	0	0	0	273	768	27	3	1110	3	ADAMTS9	3	64536704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397728	64536704	133485726	4291	14608											
MAGI1	9223	broad.mit.edu	37	chr3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcttctctggggaccGcctcttggggccgttggcgg	15	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGGACCGCCTCTTGGGG	0.711																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3961-3963)Cgg>Tgg		membrane associated guanylate kinase, WW and PDZ domain containing 1							36	40	39					3																	65342481		2203	4298	6501	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342481G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3961C>T	3.37:g.65342481G>A	ENSP00000385450:p.Arg1321Trp					MAGI1_ENST00000330909.8_3'UTR	p.R1321W	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3960	-		Lung NSC(201;0.0016)	1350					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3961C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495189	0.26774	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	5.31	0.16	0.14972	.	0.351946	0.28784	N	0.014145	T	0.09512	0.0234	L	0.27053	0.805	0.20764	N	0.99985	D	0.60160	0.987	B	0.43123	0.409	T	0.21655	-1.0239	10	0.72032	D	0.01	-8.2417	9.3632	0.38208	0.0:0.069:0.461:0.47	.	1321	Q96QZ7-2	.	W	1321	ENSP00000385450:R1321W	ENSP00000385450:R1321W	R	-	1	2	MAGI1	65317521	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.548000	0.23314	-0.203000	0.10251	-0.181000	0.13052	CGG		0.711	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		14	523	0	0	0	1	0	14	523					A	65342481	G	A	65342481	3	1	79	1	0	0	0	0	1	0	0	0	9231	1086	38	1	431	1	MAGI1	3	65342481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805777	65342481	132679949	4292	14609											
MAGI1	9223	broad.mit.edu	37	chr3	65415781	65415781	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgtgtgtgtcccaaAacacaggtgtcattcacact	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000497477.2	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000330909.8_Silent_p.V527V|MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	527	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGTCCCAAAACACAGGTGT	0.458																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1579-1581)gtT>gtG		membrane associated guanylate kinase, WW and PDZ domain containing 1							84	69	74					3																	65415781		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65415781A>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1581T>G	3.37:g.65415781A>C						MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000497477.2_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.V527V	p.V527V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	12	1580	-		Lung NSC(201;0.0016)	527			PDZ 2.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1581T>G		.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.92	0.898	0.19264	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-20.2447	6.8542	0.24032	0.3073:0.3707:0.322:0.0	.	.	.	.	C	408	.	.	F	-	2	0	MAGI1	65390821	0.822000	0.29219	0.999000	0.59377	0.996000	0.88848	0.027000	0.13621	0.140000	0.18849	0.528000	0.53228	TTT		0.458	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		32	174	0	0	0	1	0	32	174					C	65415781	A	C	65415781	2	2	79	1	0	0	0	0	0	0	0	1	9231	1	1	4		4	MAGI1	3	65415781	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73300	65415781	132606649	4293	14610											
MAGI1	9223	broad.mit.edu	37	chr3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaagttatagtccacgCcaggcacttctccttctctg	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000497477.2	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	156	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATAGTCCACGCCAGGCACTTC	0.478																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(466-468)gGc>gAc		membrane associated guanylate kinase, WW and PDZ domain containing 1							81	74	77					3																	65479270		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65479270C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.467G>A	3.37:g.65479270C>T	ENSP00000424369:p.Gly156Asp					MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D	p.G156D	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	3	466	-		Lung NSC(201;0.0016)	156			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.467G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.007034|5.007034	0.93287|0.93287	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90631|0.90631	0.7062|0.7062	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|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;0.995;1.0;1.0;1.0	D|D	0.91138|0.91138	0.4943|0.4943	5|10	.|0.66056	.|D	.|0.02	-22.1782|-22.1782	20.2552|20.2552	0.98417|0.98417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;156;156;156;156	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	T|D	37|156;156;52;31;156;156	.|ENSP00000385450:G156D;ENSP00000331157:G156D;ENSP00000418177:G31D;ENSP00000420323:G156D;ENSP00000424369:G156D	.|ENSP00000331157:G156D	A|G	-|-	1|2	0|0	MAGI1|MAGI1	65454310|65454310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.089000|6.089000	0.71384|0.71384	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCG|GGC		0.478	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		26	219	0	0	0	1	0	26	219					T	65479270	C	T	65479270	3	4	79	1	0	0	0	0	1	0	0	0	9231	739	26	2	4239	2	MAGI1	3	65479270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63489	65479270	132543160	4294	14611											
SLC25A26	115286	broad.mit.edu	37	chr3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtttcagggtatccaaGggttgtatcgaggctataaa	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000413054.1	+	3	225	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	139					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGGTATCCAAGGGTTGTATCG	0.388																																						ENST00000354883.6																			0				endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8						c.(415-417)Ggg>Agg		solute carrier family 25 (S-adenosylmethionine carrier), member 26							123	116	118					3																	66313765		2203	4300	6503	SO:0001583	missense	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66313765G>A	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"Solute carriers"	20661	protein-coding gene	gene with protein product		611037	"solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.151G>A	3.37:g.66313765G>A	ENSP00000415304:p.Gly51Arg					SLC25A26_ENST00000336733.5_Missense_Mutation_p.G51R|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.G139R			Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	6	1143	+		Lung NSC(201;0.00774)	139					A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37	c.415G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	D;D	0.83163	-1.69;-1.69	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.103920	0.64402	D	0.000003	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P	0.49253	0.84;0.921	P;P	0.56960	0.622;0.81	D	0.92796	0.6252	10	0.87932	D	0	-15.2225	19.4905	0.95048	0.0:0.0:1.0:0.0	.	139;139	F8WAB8;Q70HW3	.;SAMC_HUMAN	R	139;51	ENSP00000346955:G139R;ENSP00000336801:G51R	ENSP00000336801:G51R	G	+	1	0	SLC25A26	66396455	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.689000	0.91265	2.601000	0.87937	0.585000	0.79938	GGG		0.388	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		16	71	0	0	0	1	0	16	71					A	66313765	G	A	66313765	3	1	79	1	0	0	0	0	1	0	0	0	14539	1000	35	2	235	2	SLC25A26	3	66313765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834495	66313765	131708665	4295	14612											
LRIG1	26018	broad.mit.edu	37	chr3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggcgcacttggctgtGcgctgtctctggacacaggc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000273261.3	-	18	3394	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A934V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	957			A -> T (in dbSNP:rs332373).		innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTTGGCTGTGCGCTGTCTCT	0.632																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2800-2802)gCa>gTa		leucine-rich repeats and immunoglobulin-like domains 1							61	63	62					3																	66431186		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66431186G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2870C>T	3.37:g.66431186G>A	ENSP00000273261:p.Ala957Val					LRIG1_ENST00000273261.3_Missense_Mutation_p.A957V|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.A934V			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3404	-		Lung NSC(201;0.0101)	957					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2801C>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224411	0.09863	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63744	-0.06;-0.03	5.55	-0.703	0.11261	.	1.630420	0.03007	N	0.148949	T	0.50565	0.1623	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22626	-1.0211	10	0.29301	T	0.29	.	7.8908	0.29677	0.2123:0.3433:0.4444:0.0	.	934;957;957	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	957;934;860	ENSP00000273261:A957V;ENSP00000373208:A934V	ENSP00000273261:A957V	A	-	2	0	LRIG1	66513876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.156000	0.16382	-0.478000	0.06823	-1.316000	0.01300	GCA		0.632	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		21	442	0	0	0	1	0	21	442					A	66431186	G	A	66431186	3	1	79	1	0	0	0	0	1	0	0	0	8982	1319	46	2	419	2	LRIG1	3	66431186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117421	66431186	131591244	4296	14613											
LRIG1	26018	broad.mit.edu	37	chr3	66436706	66436706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctggctgggtgatgatCtgtggcttcaggaagtcatc	14	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000273261.3	-	13	2012	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Silent_p.Q520Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1558-1560)caG>caA		leucine-rich repeats and immunoglobulin-like domains 1							179	178	178					3																	66436706		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66436706C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1488G>A	3.37:g.66436706C>T						LRIG1_ENST00000273261.3_Silent_p.Q496Q|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.Q520Q			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2163	-		Lung NSC(201;0.0101)	496			Ig-like C2-type 1.|Poly-Ser.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1560G>A	CCDS33783.1																																																																																				0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		173	777	0	0	0	1	0	173	777					T	66436706	C	T	66436706	2	4	79	1	0	0	0	0	0	0	0	1	8982	912	32	2		2	LRIG1	3	66436706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5520	66436706	131585724	4297	14614											
LRIG1	26018	broad.mit.edu	37	chr3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcggtccgtgtggaaagCaggtgttccgcacttccgtg	15	10	0	0	rs533974488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000273261.3	-	4	997	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000383703.3_Missense_Mutation_p.C158Y	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	158					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGTGGAAAGCAGGTGTTCCG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.001					ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(472-474)tGc>tAc		leucine-rich repeats and immunoglobulin-like domains 1							260	232	241					3																	66467583		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467583C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.473G>A	3.37:g.66467583C>T	ENSP00000273261:p.Cys158Tyr					LRIG1_ENST00000273261.3_Missense_Mutation_p.C158Y	p.C158Y			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	1076	-		Lung NSC(201;0.0101)	158					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.473G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844997	0.51164	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58652	0.32;0.32	5.89	5.89	0.94794	.	0.104215	0.64402	D	0.000002	T	0.43277	0.1240	N	0.16130	0.375	0.50171	D	0.999854	B;B	0.29612	0.251;0.171	B;B	0.30179	0.112;0.105	T	0.37888	-0.9686	10	0.44086	T	0.13	.	15.6916	0.77457	0.0:0.8637:0.1363:0.0	.	158;158	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	Y	158;158;85	ENSP00000273261:C158Y;ENSP00000373208:C158Y	ENSP00000273261:C158Y	C	-	2	0	LRIG1	66550273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.829000	0.48128	2.792000	0.96026	0.643000	0.83706	TGC		0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		233	955	0	0	0	1	0	233	955					T	66467583	C	T	66467583	3	4	79	1	0	0	0	0	1	0	0	0	8982	710	25	2	2872	2	LRIG1	3	66467583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30877	66467583	131554847	4298	14615											
KBTBD8	84541	broad.mit.edu	37	chr3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatccttgcttcgagccaGaataggctgcaaacttgtct	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000417314.2	+	3	1188	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	380						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTTCGAGCCAGAATAGGCTGC	0.433																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1060-1062)aGa>aTa		kelch repeat and BTB (POZ) domain containing 8							139	133	135					3																	67054530		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67054530G>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1139G>T	3.37:g.67054530G>T	ENSP00000401878:p.Arg380Ile					KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R380I	p.R354I	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1192	+		Lung NSC(201;0.0765)	380					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1061G>T	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530339	0.85706	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043526	0.85682	D	0.000000	D	0.91088	0.7195	H	0.96269	3.795	0.80722	D	1	D	0.53462	0.96	P	0.57776	0.827	D	0.93569	0.6902	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	380	Q8NFY9	KBTB8_HUMAN	I	354;380	ENSP00000295568:R354I;ENSP00000401878:R380I	.	R	+	2	0	KBTBD8	67137220	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	AGA		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		114	476	1	0	1.76042e-48	1	2.17308e-48	114	476					T	67054530	G	T	67054530	3	4	79	1	0	0	0	0	1	0	0	0	8029	942	33	3	1149	3	KBTBD8	3	67054530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586947	67054530	130967900	4299	14616											
KBTBD8	84541	broad.mit.edu	37	chr3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtggaaatcatcaacGtatgtttactgtagaagcct	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000417314.2	+	4	1533	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	495						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCATCAACGTATGTTTACT	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1405-1407)cGt>cAt		kelch repeat and BTB (POZ) domain containing 8							122	124	123					3																	67058487		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058487G>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1484G>A	3.37:g.67058487G>A	ENSP00000401878:p.Arg495His					KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R495H	p.R469H	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1537	+		Lung NSC(201;0.0765)	495					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1406G>A	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684935	0.47991	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.735555	0.13839	N	0.359220	D	0.86251	0.5888	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.80030	-0.1553	10	0.11182	T	0.66	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	53;495	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	H	469;53;495	ENSP00000295568:R469H;ENSP00000419738:R53H;ENSP00000401878:R495H	ENSP00000295568:R469H	R	+	2	0	KBTBD8	67141177	1.000000	0.71417	0.766000	0.31476	0.950000	0.60333	9.869000	0.99810	2.575000	0.86900	0.650000	0.86243	CGT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		91	431	0	0	0	1	0	91	431					A	67058487	G	A	67058487	3	1	79	1	0	0	0	0	1	0	0	0	8029	1145	40	1	1498	1	KBTBD8	3	67058487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3957	67058487	130963943	4300	14617											
C3orf64	285203	broad.mit.edu	37	chr3	69027535	69027535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaagtgatgtagtgaacGcctctcagcctggccaagtc	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69027535G>A	ENST00000383701.3	-	17	2128	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	EOGT_ENST00000540764.1_Silent_p.G361G|EOGT_ENST00000540955.1_Silent_p.G186G|EOGT_ENST00000295571.5_Silent_p.G378G	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	462					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TGTAGTGAACGCCTCTCAGCC	0.418																																						ENST00000383701.3																			0											c.(1384-1386)ggC>ggT		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							146	131	136					3																	69027535		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69027535G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1386C>T	3.37:g.69027535G>A						EOGT_ENST00000540955.1_Silent_p.G186G|EOGT_ENST00000295571.5_Silent_p.G378G|EOGT_ENST00000540764.1_Silent_p.G361G	p.G462G	NM_001278689.1	NP_001265618.1					17	2128	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.1386C>T																																																																																					0.418	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		113	311	0	0	0	1	0	113	311					A	69027535	G	A	69027535	2	1	79	1	0	0	0	0	0	0	0	1	2247	1074	38	1		1	C3orf64	3	69027535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1969048	69027535	128994895	4301	14618											
TMF1	7110	broad.mit.edu	37	chr3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcattggctttgtgaagatCagtaagttctcttaaaaaat	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000398559.2	-	8	2221	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	669					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2014-2016)Gat>Tat		TATA element modulatory factor 1							111	102	104					3																	69087861		1859	4104	5963	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69087861C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2005G>T	3.37:g.69087861C>A	ENSP00000381567:p.Asp669Tyr					CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D669Y|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	p.D672Y	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	8	2260	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	669					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2014G>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421412	0.83559	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20738	2.05;2.05	5.72	5.72	0.89469	.	0.047409	0.85682	D	0.000000	T	0.42675	0.1213	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.70935	0.971;0.851	T	0.14980	-1.0453	10	0.72032	D	0.01	-21.9043	19.8709	0.96851	0.0:1.0:0.0:0.0	.	672;669	P82094-2;P82094	.;TMF1_HUMAN	Y	669;672;585	ENSP00000381567:D669Y;ENSP00000438706:D672Y	ENSP00000348582:D585Y	D	-	1	0	TMF1	69170551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GAT		0.358	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		100	446	1	0	1.11883e-47	1	1.37812e-47	100	446					A	69087861	C	A	69087861	3	1	79	1	0	0	0	0	1	0	0	0	16280	826	29	3	1316	3	TMF1	3	69087861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60326	69087861	128934569	4302	14619											
LMOD3	56203	broad.mit.edu	37	chr3	69168087	69168087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtacttcggggcctgCgatggctttttcatcatttc	10	11	2	0	rs373942606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	473						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGGGGCCTGCGATGGCTTTT	0.557																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1417-1419)tcG>tcA		leiomodin 3 (fetal)		C		1,4099		0,1,2049	67	72	70		1419	-11.7	0	3		70	0,8420		0,0,4210	no	coding-synonymous	LMOD3	NM_198271.3		0,1,6259	TT,TC,CC		0.0,0.0244,0.0080		473/561	69168087	1,12519	2050	4210	6260	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168087C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1419G>A	3.37:g.69168087C>T						LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1598	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	473					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.1419G>A	CCDS46862.1																																																																																				0.557	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		33	149	0	0	0	1	0	33	149					T	69168087	C	T	69168087	2	4	79	1	0	0	0	0	0	0	0	1	8891	755	27	1		1	LMOD3	3	69168087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80226	69168087	128854343	4303	14620											
LMOD3	56203	broad.mit.edu	37	chr3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcattattgagcttttcTtttaaatactgggccatatt	5	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	120	Glu-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGCTTTTCTTTTAAATACT	0.328																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(358-360)aaA>aaC		leiomodin 3 (fetal)							59	49	52					3																	69169146		1829	4083	5912	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69169146T>G	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.360A>C	3.37:g.69169146T>G	ENSP00000414670:p.Lys120Asn					LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	539	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	120			Glu-rich.		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.360A>C	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	8.956	0.969269	0.18659	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.42513	0.97;0.97;0.97	5.43	1.65	0.23941	.	1.267940	0.04832	N	0.438860	T	0.42630	0.1211	L	0.57536	1.79	0.19300	N	0.99997	B	0.32010	0.351	B	0.40329	0.326	T	0.32348	-0.9910	10	0.19590	T	0.45	-30.8145	3.7605	0.08602	0.2288:0.2411:0.0:0.5301	.	120	Q0VAK6	LMOD3_HUMAN	N	120	ENSP00000414670:K120N;ENSP00000417210:K120N;ENSP00000418645:K120N	ENSP00000414670:K120N	K	-	3	2	LMOD3	69251836	0.012000	0.17670	0.999000	0.59377	0.752000	0.42762	0.255000	0.18333	0.363000	0.24346	0.482000	0.46254	AAA		0.328	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		14	69	0	0	0	1	0	14	69					G	69169146	T	G	69169146	3	3	79	1	0	0	0	0	1	0	0	0	8891	1606	56	4	1330	4	LMOD3	3	69169146	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1059	69169146	128853284	4304	14621											
FRMD4B	23150	broad.mit.edu	37	chr3	69230103	69230103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggtacttgcagccccGcaaaccccaggcatctctgt	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69230103G>T	ENST00000398540.3	-	21	2881	c.2798C>A	c.(2797-2799)gCg>gAg	p.A933E	FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E|FRMD4B_ENST00000542259.1_Missense_Mutation_p.A879E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	933					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.A879V(2)|p.A933V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGCAGCCCCGCAAACCCCAG	0.542																																						ENST00000542259.1																			3	Substitution - Missense(3)	p.A879V(2)|p.A933V(1)	kidney(2)|prostate(1)	NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2635-2637)gCg>gAg		FERM domain containing 4B							85	83	84					3																	69230103		1992	4158	6150	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230103G>T	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2798C>A	3.37:g.69230103G>T	ENSP00000381549:p.Ala933Glu					FRMD4B_ENST00000398540.3_Missense_Mutation_p.A933E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E	p.A879E			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	3087	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	933					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.2636C>A	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446531	0.25987	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83075	-1.68;-1.68	5.83	4.95	0.65309	.	0.561852	0.19950	N	0.102453	T	0.79724	0.4495	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.20887	0.033;0.049	B;B	0.20384	0.027;0.029	T	0.67719	-0.5598	10	0.35671	T	0.21	-1.3754	15.4314	0.75102	0.0:0.2619:0.7381:0.0	.	777;933	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	E	933;879;585	ENSP00000381549:A933E;ENSP00000437658:A879E	ENSP00000381549:A933E	A	-	2	0	FRMD4B	69312793	0.887000	0.30362	0.233000	0.24025	0.801000	0.45260	3.820000	0.55693	1.438000	0.47492	0.591000	0.81541	GCG		0.542	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			67	273	1	0	3.07281e-33	1	3.63882e-33	67	273					T	69230103	G	T	69230103	3	4	79	1	0	0	0	0	1	0	0	0	6079	1087	38	3	318	3	FRMD4B	3	69230103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	69230103	128792327	4305	14622											
MITF	4286	broad.mit.edu	37	chr3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagtatgacatcacGcatcttgctacgccagcaac	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000448226.2	+	2	294	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000352241.4_Missense_Mutation_p.R56H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	56					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGACATCACGCATCTTGCTA	0.557			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(166-168)cGc>cAc		microphthalmia-associated transcription factor							46	53	51					3																	69928347		2090	4230	6320	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69928347G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.167G>A	3.37:g.69928347G>A	ENSP00000391803:p.Arg56His					MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000448226.2_Missense_Mutation_p.R56H	p.R56H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	2	330	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	56					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.167G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.571489	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.63255	1.27;0.82;0.29;-0.03;0.12;0.59;1.41;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.98;0.997;0.997;0.997;0.991	T	0.81824	-0.0755	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	4;31;40;55;56	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	H	56;56;4;4;4;55;55;40;40;31	ENSP00000295600:R56H;ENSP00000391803:R56H;ENSP00000418845:R4H;ENSP00000391276:R55H;ENSP00000327867:R55H;ENSP00000398639:R40H;ENSP00000324443:R40H;ENSP00000377884:R31H	.	R	+	2	0	MITF	70011037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.814000	0.96858	0.650000	0.86243	CGC		0.557	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		62	238	0	0	0	1	0	62	238					A	69928347	G	A	69928347	3	1	79	1	0	0	0	0	1	0	0	0	9637	1087	38	1	338	1	MITF	3	69928347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698244	69928347	128094083	4306	14623											
MITF	4286	broad.mit.edu	37	chr3	69990401	69990401	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacagatggatgatgtaatCgatgacatcattagcctaga	9	7	1	4	rs199805128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000448226.2	+	5	808	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000352241.4_Silent_p.I227I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000314557.6_Silent_p.I120I			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	227	Transactivation.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGATGTAATCGATGACATCA	0.343			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						C|||	1	0.000199681	0.0	0.0	5008	,	,		17492	0.0		0.001	False		,,,				2504	0.0				Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(679-681)atC>atT		microphthalmia-associated transcription factor							121	114	116					3																	69990401		2203	4300	6503	SO:0001819	synonymous_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69990401C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.681C>T	3.37:g.69990401C>T						MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000448226.2_Silent_p.I227I	p.I227I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	5	844	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	227			Transactivation.		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.681C>T																																																																																					0.343	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		39	158	0	0	0	1	0	39	158					T	69990401	C	T	69990401	2	4	79	1	0	0	0	0	0	0	0	1	9637	874	31	1		1	MITF	3	69990401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62054	69990401	128032029	4307	14624											
MITF	4286	broad.mit.edu	37	chr3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacatcctgatggacgAcaccctttctcccgtcggtg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000448226.2	+	10	1590	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000352241.4_Missense_Mutation_p.D482G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATGGACGACACCCTTTCT	0.532			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(1444-1446)gAc>gGc		microphthalmia-associated transcription factor							146	125	132					3																	70014281		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014281A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1463A>G	3.37:g.70014281A>G	ENSP00000391803:p.Asp488Gly					MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000448226.2_Missense_Mutation_p.D488G	p.D482G	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1608	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	488					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1445A>G		.	.	.	.	.	.	.	.	.	.	A	17.25	3.341746	0.61073	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84585	2.705	0.58432	D	0.999997	D;D;D;D;D;D;P	0.60575	0.988;0.969;0.969;0.968;0.968;0.968;0.936	D;P;P;P;P;P;P	0.62955	0.909;0.688;0.688;0.734;0.734;0.853;0.693	D	0.86112	0.1563	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	430;381;375;457;466;481;482	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	G	482;488;430;481;466;457;375;381;319	ENSP00000295600:D482G;ENSP00000391803:D488G;ENSP00000418845:D430G;ENSP00000327867:D481G;ENSP00000324443:D466G;ENSP00000377884:D457G;ENSP00000324246:D375G;ENSP00000377880:D381G;ENSP00000435909:D319G	.	D	+	2	0	MITF	70096971	1.000000	0.71417	0.909000	0.35828	0.415000	0.31203	6.073000	0.71245	2.371000	0.80710	0.533000	0.62120	GAC		0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		74	285	0	0	0	1	0	74	285					G	70014281	A	G	70014281	3	3	79	1	0	0	0	0	1	0	0	0	9637	275	10	4	1722	4	MITF	3	70014281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23880	70014281	128008149	4308	14625											
MITF	4286	broad.mit.edu	37	chr3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccactcctttcctcagtgTcccccggagcttccaaaaca	5	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000448226.2	+	10	1637	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000352241.4_Missense_Mutation_p.S498P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	504					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCTCAGTGTCCCCCGGAGC	0.532			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(1492-1494)Tcc>Ccc		microphthalmia-associated transcription factor							103	102	102					3																	70014328		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014328T>C		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1510T>C	3.37:g.70014328T>C	ENSP00000391803:p.Ser504Pro					MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P|MITF_ENST00000448226.2_Missense_Mutation_p.S504P	p.S498P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1655	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	504					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1492T>C		.	.	.	.	.	.	.	.	.	.	T	24.8	4.571044	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.87827	2.91	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	0.87578	0.998;0.994;0.996;0.996;0.994;0.991;0.998	D	0.90812	0.4702	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	446;397;391;473;482;497;498	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	P	498;504;446;497;482;473;391;397;335	ENSP00000295600:S498P;ENSP00000391803:S504P;ENSP00000418845:S446P;ENSP00000327867:S497P;ENSP00000324443:S482P;ENSP00000377884:S473P;ENSP00000324246:S391P;ENSP00000377880:S397P;ENSP00000435909:S335P	.	S	+	1	0	MITF	70097018	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TCC		0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		84	341	0	0	0	1	0	84	341					C	70014328	T	C	70014328	3	2	79	1	0	0	0	0	1	0	0	0	9637	1667	58	4	1769	4	MITF	3	70014328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	70014328	128008102	4309	14626											
FOXP1	27086	broad.mit.edu	37	chr3	71008431	71008431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttactggttcatcttcGtaatctctgtcatggtcaaa	7	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000318789.4	-	21	2526	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	667					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1999-2001)taC>taT		forkhead box P1							203	181	188					3																	71008431		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71008431G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.2001C>T	3.37:g.71008431G>A						FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000475937.1_Silent_p.Y667Y	p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	21	2526	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	667					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.2001C>T	CCDS2914.1																																																																																				0.478	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		99	511	0	0	0	1	0	99	511					A	71008431	G	A	71008431	2	1	79	1	0	0	0	0	0	0	0	1	6053	1140	40	1		1	FOXP1	3	71008431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994103	71008431	127013999	4310	14627											
FOXP1	27086	broad.mit.edu	37	chr3	71026839	71026839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtggtctaacttctgcGttcttataaaattcttggtt	8	6	4	0	rs372403441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000318789.4	-	16	1908	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000498215.1_Silent_p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	461					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1381-1383)aaC>aaT		forkhead box P1		A		1,4405	2.1+/-5.4	0,1,2202	126	131	129		1383	-8.8	0.3	3		129	0,8600		0,0,4300	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		461/678	71026839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71026839G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1383C>T	3.37:g.71026839G>A						FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000475937.1_Silent_p.N461N	p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	16	1908	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	461					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1383C>T	CCDS2914.1																																																																																				0.338	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		70	302	0	0	0	1	0	70	302					A	71026839	G	A	71026839	2	1	79	1	0	0	0	0	0	0	0	1	6053	1136	40	1		1	FOXP1	3	71026839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18408	71026839	126995591	4311	14628											
FOXP1	27086	broad.mit.edu	37	chr3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttggcgctgcaaagacaGgaggtgctgctgctgtaact	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000318789.4	-	10	1114	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	197	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(589-591)Ctg>Atg		forkhead box P1							134	133	133					3																	71096168		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71096168G>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.589C>A	3.37:g.71096168G>T	ENSP00000318902:p.Leu197Met					FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M	p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1114	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	197			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.589C>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118467	0.77323	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.49139	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.62;0.79	6.03	4.23	0.50019	.	0.226640	0.38959	N	0.001509	T	0.66208	0.2766	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;D;D;D	0.78314	0.991;0.986;0.969;0.969	T	0.67612	-0.5626	10	0.54805	T	0.06	.	13.3988	0.60870	0.1291:0.0:0.8709:0.0	.	196;197;121;197	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	M	197;97;197;197;93;199;197;197;121;197;97;97	ENSP00000318902:L197M;ENSP00000419393:L197M;ENSP00000418225:L93M;ENSP00000420736:L199M;ENSP00000418524:L197M;ENSP00000418102:L197M;ENSP00000417857:L121M;ENSP00000418883:L197M;ENSP00000417941:L97M;ENSP00000418784:L97M	ENSP00000318902:L197M	L	-	1	2	FOXP1	71178858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	0.855000	0.35359	0.655000	0.94253	CTG		0.517	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		207	720	1	0	5.26391e-89	1	6.75409e-89	207	720					T	71096168	G	T	71096168	3	4	79	1	0	0	0	0	1	0	0	0	6053	991	35	3	1492	3	FOXP1	3	71096168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69329	71096168	126926262	4312	14629											
SHQ1	55164	broad.mit.edu	37	chr3	72890250	72890250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatccatagtggcactgCggattcaaagcactttctga	8	11	2	1	rs545943497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	144					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(430-432)ccG>ccA		SHQ1, H/ACA ribonucleoprotein assembly factor							175	163	167					3																	72890250		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890250C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.432G>A	3.37:g.72890250C>T						SHQ1_ENST00000463369.1_Silent_p.P116P	p.P144P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	4	571	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	144					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.432G>A	CCDS33788.1																																																																																				0.423	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		112	549	0	0	0	1	0	112	549					T	72890250	C	T	72890250	2	4	79	1	0	0	0	0	0	0	0	1	14342	755	27	1		1	SHQ1	3	72890250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794082	72890250	125132180	4313	14630											
EBLN2	55096	broad.mit.edu	37	chr3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcaatgcagaatcaGccataggttggatcagctca	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	239										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443																																						ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(715-717)Gcc>Acc		endogenous Bornavirus-like nucleoprotein 2							164	168	167					3																	73111947		1945	4147	6092	SO:0001583	missense	55096						protein binding	g.chr3:73111947G>A		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.715G>A	3.37:g.73111947G>A	ENSP00000432104:p.Ala239Thr					PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	p.A239T	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	1138	+			239					Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	c.715G>A	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810902	0.32053	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.22906	-1.0203	7	0.87932	D	0	.	.	.	.	.	239	Q6P2I7	EBLN2_HUMAN	T	239	.	ENSP00000432104:A239T	A	+	1	0	EBLN2	73194637	0.039000	0.19947	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	0.488000	0.27723	0.491000	0.48974	GCC		0.443	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		141	699	0	0	0	1	0	141	699					A	73111947	G	A	73111947	3	1	79	1	0	0	0	0	1	0	0	0	4900	971	34	2	717	2	EBLN2	3	73111947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221697	73111947	124910483	4314	14631											
PDZRN3	23024	broad.mit.edu	37	chr3	73432936	73432936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtagcgcgtcccgtcGctgcggatcttcaccttcca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000263666.4	-	10	2895	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	927					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTCCCGTCGCTGCGGATCT	0.667																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2779-2781)agC>agT		PDZ domain containing ring finger 3							37	36	36					3																	73432936		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432936G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2781C>T	3.37:g.73432936G>A						PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000466780.1_Silent_p.S584S	p.S927S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2895	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	927					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2781C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.606|5.606	0.296515|0.296515	0.10622|0.10622	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000416926	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.58850|.	0.2151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53809|.	-0.8386|.	4|.	.|0.36615	.|T	.|0.2	.|.	9.4405|9.4405	0.38666|0.38666	0.3016:0.0:0.6984:0.0|0.3016:0.0:0.6984:0.0	.|.	.|.	.|.	.|.	V|X	243|647	.|.	.|ENSP00000392657:R647X	A|R	-|-	2|1	0|2	PDZRN3|PDZRN3	73515626|73515626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	0.602000|0.602000	0.24134|0.24134	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		72	315	0	0	0	1	0	72	315					A	73432936	G	A	73432936	2	1	79	1	0	0	0	0	0	0	0	1	11751	1078	38	1		1	PDZRN3	3	73432936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320989	73432936	124589494	4315	14632											
PDZRN3	23024	broad.mit.edu	37	chr3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgtcgctggctctccGctctttgctttccaggggct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000263666.4	-	10	2632	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	840					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCTCTCCGCTCTTTGCTT	0.637																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2518-2520)Cgg>Tgg		PDZ domain containing ring finger 3							39	45	43					3																	73433199		2201	4300	6501	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433199G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2518C>T	3.37:g.73433199G>A	ENSP00000263666:p.Arg840Trp					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W	p.R840W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2632	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	840					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2518C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	7.632	0.679032	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11495	2.77;3.48;3.38;3.38;3.49	5.16	-1.19	0.09585	.	3.246850	0.00914	N	0.002509	T	0.31857	0.0810	M	0.70595	2.14	0.20074	N	0.999931	D;D;D;D	0.89917	0.993;0.999;0.995;1.0	P;P;P;D	0.66084	0.84;0.708;0.462;0.941	T	0.38001	-0.9681	10	0.87932	D	0	.	10.5668	0.45177	0.0:0.0834:0.333:0.5836	.	562;557;557;840	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	W	840;562;497;497;557	ENSP00000263666:R840W;ENSP00000442026:R562W;ENSP00000418168:R497W;ENSP00000418484:R497W;ENSP00000418624:R557W	ENSP00000263666:R840W	R	-	1	2	PDZRN3	73515889	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.126000	0.11682	-0.175000	0.13238	CGG		0.637	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		100	386	0	0	0	1	0	100	386					A	73433199	G	A	73433199	3	1	79	1	0	0	0	0	1	0	0	0	11751	1086	38	1	686	1	PDZRN3	3	73433199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	73433199	124589231	4316	14633											
PDZRN3	23024	broad.mit.edu	37	chr3	73433317	73433317	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggaggctggcccgtaGgcttccgtggtccccacagc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2398-2400)gcC>gcA		PDZ domain containing ring finger 3							47	51	49					3																	73433317		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433317G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2400C>A	3.37:g.73433317G>T						PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000466780.1_Silent_p.A457A	p.A800A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2514	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	800					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2400C>A	CCDS33789.1																																																																																				0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		7	391	1	0	0.000274275	1	0.000278163	7	391					T	73433317	G	T	73433317	2	4	79	1	0	0	0	0	0	0	0	1	11751	987	35	3		3	PDZRN3	3	73433317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	73433317	124589113	4317	14634											
PDZRN3	23024	broad.mit.edu	37	chr3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactccagctcgatgctgCgcagctcttcgttcagcagc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000263666.4	-	10	2192	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	693					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGATGCTGCGCAGCTCTTC	0.632																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2077-2079)cGc>cAc		PDZ domain containing ring finger 3							37	32	34					3																	73433639		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433639C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2078G>A	3.37:g.73433639C>T	ENSP00000263666:p.Arg693His					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H	p.R693H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2192	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	693					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2078G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189810	0.57909	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.18657	2.2;2.94;2.86;2.86;2.96;2.83	5.01	5.01	0.66863	.	0.053685	0.85682	D	0.000000	T	0.25606	0.0623	L	0.52206	1.635	0.80722	D	1	P;B;B;B	0.45283	0.855;0.163;0.373;0.163	P;B;B;B	0.46144	0.505;0.021;0.066;0.021	T	0.01159	-1.1433	10	0.49607	T	0.09	.	11.4627	0.50219	0.0:0.9168:0.0:0.0832	.	415;410;410;693	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	693;415;350;350;410;391	ENSP00000263666:R693H;ENSP00000442026:R415H;ENSP00000418168:R350H;ENSP00000418484:R350H;ENSP00000418624:R410H;ENSP00000419250:R391H	ENSP00000263666:R693H	R	-	2	0	PDZRN3	73516329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.324000	0.78689	0.655000	0.94253	CGC		0.632	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		52	229	0	0	0	1	0	52	229					T	73433639	C	T	73433639	3	4	79	1	0	0	0	0	1	0	0	0	11751	768	27	1	1126	1	PDZRN3	3	73433639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322	73433639	124588791	4318	14635											
PDZRN3	23024	broad.mit.edu	37	chr3	73434832	73434832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttacctgctgcagcacGctagctgtgaattgcatggc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000263666.4	-	9	1737	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	541					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGCAGCACGCTAGCTGTGA	0.552																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1621-1623)agC>agT		PDZ domain containing ring finger 3							195	146	162					3																	73434832		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434832G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1623C>T	3.37:g.73434832G>A						PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000466780.1_Silent_p.S198S	p.S541S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	1737	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	541					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1623C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092566	0.08632	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.58	-1.85	0.07784	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51733	-0.8668	4	.	.	.	.	11.2905	0.49247	0.4454:0.0:0.5546:0.0	.	.	.	.	V	138	.	.	A	-	2	0	PDZRN3	73517522	1.000000	0.71417	0.028000	0.17463	0.442000	0.32017	0.853000	0.27777	-0.792000	0.04480	-0.812000	0.03155	GCG		0.552	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		18	430	0	0	0	1	0	18	430					A	73434832	G	A	73434832	2	1	79	1	0	0	0	0	0	0	0	1	11751	1078	38	1		1	PDZRN3	3	73434832	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1193	73434832	124587598	4319	14636											
CNTN3	5067	broad.mit.edu	37	chr3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcaacattttttcctcGtgaattctcagcaatgcatt	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	303	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				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)		TTTTTTCCTCGTGAATTCTCA	0.398																																						ENST00000263665.6																			0				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						c.(907-909)Cga>Tga		contactin 3 (plasmacytoma associated)							74	70	71					3																	74418379		2203	4299	6502	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418379G>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.907C>T	3.37:g.74418379G>A	ENSP00000263665:p.Arg303*						p.R303*	NM_020872.1	NP_065923.1	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)	7	934	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	303			Ig-like C2-type 3.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.907C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.931654	0.97116	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.01	1.64	0.23874	.	0.062472	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1043	0.59239	0.0:0.0:0.4209:0.5791	.	.	.	.	X	303	.	ENSP00000263665:R303X	R	-	1	2	CNTN3	74501069	0.988000	0.35896	0.957000	0.39632	0.991000	0.79684	2.049000	0.41288	0.429000	0.26202	0.591000	0.81541	CGA		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		23	162	0	0	0	1	0	23	162					A	74418379	G	A	74418379	4	1	79	1	0	0	0	0	0	1	0	0	3651	1153	40	1	2243	1	CNTN3	3	74418379	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	983547	74418379	123604051	4320	14637											
CNTN3	5067	broad.mit.edu	37	chr3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctcgtgaattctcaGcaatgcattcataggaacct	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				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)		TGAATTCTCAGCAATGCATTC	0.428																																						ENST00000263665.6																			0				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						c.(895-897)gCt>gAt		contactin 3 (plasmacytoma associated)							75	71	72					3																	74418390		2203	4299	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418390G>T	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.896C>A	3.37:g.74418390G>T	ENSP00000263665:p.Ala299Asp						p.A299D	NM_020872.1	NP_065923.1	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)	7	923	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	299			Ig-like C2-type 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.896C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376990	0.82682	.	.	ENSG00000113805	ENST00000263665	T	0.76968	-1.06	5.05	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.059653	0.64402	D	0.000002	D	0.91831	0.7415	H	0.96861	3.895	0.50467	D	0.999876	D	0.89917	1.0	D	0.80764	0.994	D	0.94446	0.7663	10	0.87932	D	0	.	15.5641	0.76277	0.0:0.1382:0.8618:0.0	.	299	Q9P232	CNTN3_HUMAN	D	299	ENSP00000263665:A299D	ENSP00000263665:A299D	A	-	2	0	CNTN3	74501080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.000000	0.93564	1.117000	0.41842	0.591000	0.81541	GCT		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	168	1	0	3.73808e-20	1	4.18385e-20	26	168					T	74418390	G	T	74418390	3	4	79	1	0	0	0	0	1	0	0	0	3651	971	34	3	2254	3	CNTN3	3	74418390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	74418390	123604040	4321	14638											
CNTN3	5067	broad.mit.edu	37	chr3	74420531	74420531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgatgggtattcattgaaGatccaagcatatgacagttc	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	158	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				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)		ATTCATTGAAGATCCAAGCAT	0.393																																						ENST00000263665.6																			0				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						c.(472-474)atC>atT		contactin 3 (plasmacytoma associated)							69	67	68					3																	74420531		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420531G>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.474C>T	3.37:g.74420531G>A							p.I158I	NM_020872.1	NP_065923.1	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)	5	501	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	158			Ig-like C2-type 2.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.474C>T	CCDS33790.1																																																																																				0.393	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		28	178	0	0	0	1	0	28	178					A	74420531	G	A	74420531	2	1	79	1	0	0	0	0	0	0	0	1	3651	932	33	2		2	CNTN3	3	74420531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2141	74420531	123601899	4322	14639											
ROBO2	6092	broad.mit.edu	37	chr3	77147265	77147265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactctgaactgcaaggcGgagggccggccaacgcccac	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(160-162)gcG>gcA		roundabout, axon guidance receptor, homolog 2 (Drosophila)							53	59	57					3																	77147265		1980	4165	6145	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147265G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.162G>A	3.37:g.77147265G>A						ROBO2_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1062	+			54			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.162G>A	CCDS43109.1																																																																																				0.617	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		13	211	0	0	0	1	0	13	211					A	77147265	G	A	77147265	2	1	79	1	0	0	0	0	0	0	0	1	13564	1117	39	1		1	ROBO2	3	77147265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2726734	77147265	120875165	4323	14640											
ROBO2	6092	broad.mit.edu	37	chr3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctggtgatcccagctatCcatggcttgctgattcttgg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000461745.1	+	19	3664	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	922					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCAGCTATCCATGGCTTGC	0.458																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2764-2766)Cca>Tca		roundabout, axon guidance receptor, homolog 2 (Drosophila)							137	133	135					3																	77645811		1860	4110	5970	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645811C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2764C>T	3.37:g.77645811C>T	ENSP00000417164:p.Pro922Ser					ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S	p.P922S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3664	+			922					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2764C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182120	0.78677	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67698	-0.28;-0.24;-0.18	6.16	6.16	0.99307	.	0.000000	0.45606	D	0.000341	D	0.83422	0.5251	M	0.76838	2.35	0.32123	N	0.587765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.81420	-0.0941	9	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	938;922;922	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	938;938;942;922;922	ENSP00000417335:P938S;ENSP00000417164:P922S;ENSP00000327536:P922S	ENSP00000327536:P922S	P	+	1	0	ROBO2	77728501	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	7.270000	0.78493	2.937000	0.99478	0.650000	0.86243	CCA		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		130	581	0	0	0	1	0	130	581					T	77645811	C	T	77645811	3	4	79	1	0	0	0	0	1	0	0	0	13564	855	30	2	2840	2	ROBO2	3	77645811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498546	77645811	120376619	4324	14641											
ROBO2	6092	broad.mit.edu	37	chr3	77671486	77671486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgcagatgatgatgcCgacgacgaagaggaagcttt	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3661-3663)gcC>gcT		roundabout, axon guidance receptor, homolog 2 (Drosophila)							122	122	122					3																	77671486		1923	4148	6071	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671486C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3663C>T	3.37:g.77671486C>T						ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4563	+			1221					O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.3663C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA		0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		61	286	0	0	0	1	0	61	286					T	77671486	C	T	77671486	2	4	79	1	0	0	0	0	0	0	0	1	13564	639	23	1		1	ROBO2	3	77671486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25675	77671486	120350944	4325	14642											
ROBO1	6091	broad.mit.edu	37	chr3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacatacctcctgtcgggCtggtgctgcatgtggccagt	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000464233.1	-	26	3977	c.3864G>T	c.(3862-3864)caG>caT	p.Q1288H	ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1288					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)			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)		TCCTGTCGGGCTGGTGCTGCA	0.488																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3745-3747)caG>caT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							48	54	52					3																	78676482		2154	4260	6414	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.chr3:78676482C>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.3864G>T	3.37:g.78676482C>A	ENSP00000420321:p.Gln1288His					ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q1288H	p.Q1249H			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)	24	4744	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1288					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3747G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081801	0.07141	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61392	0.13;0.11;0.11;0.13	5.08	-8.7	0.00851	.	0.407517	0.29383	N	0.012309	T	0.33177	0.0854	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.13407	0.0;0.0;0.0;0.0;0.009	T	0.17228	-1.0376	9	.	.	.	.	12.3366	0.55071	0.0979:0.5823:0.0:0.3199	.	1252;1288;1243;1188;1249	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1249;1243;1288;1243;1188;1292	ENSP00000406043:Q1249H;ENSP00000420321:Q1288H;ENSP00000420637:Q1243H;ENSP00000417992:Q1188H	.	Q	-	3	2	ROBO1	78759172	0.000000	0.05858	0.012000	0.15200	0.161000	0.22273	-2.170000	0.01268	-1.238000	0.02535	-0.340000	0.08031	CAG		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		12	86	1	0	0.00185496	1	0.00187281	12	86					A	78676482	C	A	78676482	3	1	79	1	0	0	0	0	1	0	0	0	13563	796	28	3	1115	3	ROBO1	3	78676482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1004996	78676482	119345948	4326	14643											
ROBO1	6091	broad.mit.edu	37	chr3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttggtaccttgggtgttCttgcccctttcttgtgcccc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000464233.1	-	25	3622	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					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)			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)		CTTGGGTGTTCTTGCCCCTTT	0.468																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3391-3393)aGa>aTa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							164	163	164					3																	78680428		2061	4190	6251	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.chr3:78680428C>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.3509G>T	3.37:g.78680428C>A	ENSP00000420321:p.Arg1170Ile					ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1170I	p.R1131I			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)	23	4389	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1170					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3392G>T	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998365|4.998365	0.93227|0.93227	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90410	.|0.6998	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;D;P;B	.|0.69078	.|0.997;0.294;0.973;0.883;0.264	.|D;B;P;B;B	.|0.80764	.|0.994;0.171;0.713;0.272;0.196	.|D	.|0.88927	.|0.3370	.|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1170;1125;1070;1131	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	X|I	97|1131;1125;1170;1125;1070;1174	.|ENSP00000406043:R1131I;ENSP00000420321:R1170I;ENSP00000420637:R1125I;ENSP00000417992:R1070I	.|.	E|R	-|-	1|2	0|0	ROBO1|ROBO1	78763118|78763118	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.932000|0.932000	0.56968|0.56968	7.445000|7.445000	0.80570|0.80570	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		20	113	1	0	1.36565e-18	1	1.51684e-18	20	113					A	78680428	C	A	78680428	3	1	79	1	0	0	0	0	1	0	0	0	13563	913	32	3	1474	3	ROBO1	3	78680428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3946	78680428	119342002	4327	14644											
ROBO1	6091	broad.mit.edu	37	chr3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttcaccacatctgaAatctgctgagcgaggctgac	11	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000464233.1	-	19	2783	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	890					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)			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)		CCACATCTGAAATCTGCTGAG	0.498																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2551-2553)atT>atG		roundabout, axon guidance receptor, homolog 1 (Drosophila)							142	140	141					3																	78701024		2040	4192	6232	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.chr3:78701024A>C	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.2670T>G	3.37:g.78701024A>C	ENSP00000420321:p.Ile890Met					ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000464233.1_Missense_Mutation_p.I890M	p.I851M			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)	17	3550	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	890			Fibronectin type-III 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2553T>G	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965960	0.34659	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.0;-0.03;-0.01;0.08	5.98	-3.3	0.05003	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.44221	D	0.997057	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	D;D;D;D;D	0.85130	0.994;0.974;0.997;0.95;0.963	T	0.66384	-0.5937	9	.	.	.	.	12.2667	0.54683	0.2272:0.0:0.6642:0.1086	.	854;890;854;854;851	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	M	851;854;890;854;854;894	ENSP00000406043:I851M;ENSP00000420321:I890M;ENSP00000420637:I854M;ENSP00000417992:I854M	.	I	-	3	3	ROBO1	78783714	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	0.902000	0.28459	-0.923000	0.03785	-1.054000	0.02325	ATT		0.498	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		117	504	0	0	0	1	0	117	504					C	78701024	A	C	78701024	3	2	79	1	0	0	0	0	1	0	0	0	13563	10	1	4	2337	4	ROBO1	3	78701024	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20596	78701024	119321406	4328	14645											
ROBO1	6091	broad.mit.edu	37	chr3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcactgtccagtgcacttCgatggaagaggaagaaagga	12	8	1	2	rs199577218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000464233.1	-	15	2187	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	692	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		CAGTGCACTTCGATGGAAGAG	0.463																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1957-1959)Gaa>Aaa		roundabout, axon guidance receptor, homolog 1 (Drosophila)		C	LYS/GLU,LYS/GLU,LYS/GLU	0,3862		0,0,1931	71	78	76		1966,2074,1966	5.4	1	3		76	3,8277		0,3,4137	yes	missense,missense,missense	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	56,56,56	0,3,6068	TT,TC,CC		0.0362,0.0,0.0247	benign,benign,benign	656/1552,692/1652,656/1607	78711157	3,12139	1931	4140	6071	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.chr3:78711157C>T	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.2074G>A	3.37:g.78711157C>T	ENSP00000420321:p.Glu692Lys					ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E692K	p.E653K			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)	13	2954	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	692					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1957G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417834	0.42918	0.0	3.62E-4	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136555	0.64402	D	0.000003	T	0.41880	0.1178	N	0.19112	0.55	0.40617	D	0.98172	B;B;B;P;B;B	0.45212	0.221;0.066;0.422;0.853;0.066;0.053	B;B;B;B;B;B	0.41271	0.039;0.032;0.19;0.352;0.032;0.031	T	0.30031	-0.9992	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	656;656;692;656;656;653	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	653;656;692;656;656;696	ENSP00000406043:E653K;ENSP00000420321:E692K;ENSP00000420637:E656K;ENSP00000417992:E656K	.	E	-	1	0	ROBO1	78793847	0.983000	0.35010	0.983000	0.44433	0.985000	0.73830	2.454000	0.44979	2.516000	0.84829	0.555000	0.69702	GAA		0.463	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		14	52	0	0	0	1	0	14	52					T	78711157	C	T	78711157	3	4	79	1	0	0	0	0	1	0	0	0	13563	893	31	1	2949	1	ROBO1	3	78711157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10133	78711157	119311273	4329	14646											
ROBO1	6091	broad.mit.edu	37	chr3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagttaccttagcatatcGgatctgcagtactccattct	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000464233.1	-	11	1650	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	513	Ig-like C2-type 5.				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)			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)		TTAGCATATCGGATCTGCAGT	0.443																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1420-1422)Cga>Tga		roundabout, axon guidance receptor, homolog 1 (Drosophila)							92	93	92					3																	78719257		1968	4154	6122	SO:0001587	stop_gained	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.chr3:78719257G>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.1537C>T	3.37:g.78719257G>A	ENSP00000420321:p.Arg513*					ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.R513*	p.R474*			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)	9	2417	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	513			Ig-like C2-type 5.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	c.1420C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388750	0.97529	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	.	.	.	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0177	0.71600	0.0:0.0:0.7413:0.2587	.	.	.	.	X	474;477;513;477;477;513;46	.	.	R	-	1	2	ROBO1	78801947	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.100000	0.50275	1.405000	0.46838	0.591000	0.81541	CGA		0.443	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		10	89	0	0	0	1	0	10	89					A	78719257	G	A	78719257	4	1	79	1	0	0	0	0	0	1	0	0	13563	1124	39	1	3502	1	ROBO1	3	78719257	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8100	78719257	119303173	4330	14647											
GBE1	2632	broad.mit.edu	37	chr3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatccatcaaccaaaatGccagcgacttatccccaacc	5	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	491					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAACCAAAATGCCAGCGACTT	0.358									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1471-1473)gCa>gTa		glucan (1,4-alpha-), branching enzyme 1							69	63	65					3																	81627222		1896	4117	6013	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81627222G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1472C>T	3.37:g.81627222G>A	ENSP00000410833:p.Ala491Val					GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	p.A491V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	12	2115	-		Lung NSC(201;0.0117)	491					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1472C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539408	0.85917	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85484	-1.99;-1.99	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101196	0.64402	D	0.000002	D	0.94879	0.8345	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67382	0.811;0.951	D	0.95854	0.8877	10	0.87932	D	0	-12.9944	19.7771	0.96399	0.0:0.0:1.0:0.0	.	450;491	E9PGM4;Q04446	.;GLGB_HUMAN	V	491;542;450;254	ENSP00000410833:A491V;ENSP00000419638:A450V	ENSP00000264326:A542V	A	-	2	0	GBE1	81709912	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.455000	0.97625	2.676000	0.91093	0.585000	0.79938	GCA		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			15	56	0	0	0	1	0	15	56					A	81627222	G	A	81627222	3	1	79	1	0	0	0	0	1	0	0	0	6298	1319	46	2	656	2	GBE1	3	81627222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2907965	81627222	116395208	4331	14648											
GBE1	2632	broad.mit.edu	37	chr3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattatcaccttcacgaaCcacatactttgcccacggtg	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	165					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTCACGAACCACATACTTT	0.338									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(493-495)Gtt>Att		glucan (1,4-alpha-), branching enzyme 1							99	97	97					3																	81699009		1873	4116	5989	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81699009C>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.493G>A	3.37:g.81699009C>T	ENSP00000410833:p.Val165Ile					GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	p.V165I	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	4	1136	-		Lung NSC(201;0.0117)	165					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.493G>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056943	0.36277	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.19250	2.16;2.16	5.83	-2.4	0.06583	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.140370	0.06154	N	0.674717	T	0.16811	0.0404	L	0.31157	0.91	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38415	-0.9662	10	0.52906	T	0.07	-0.2979	12.0024	0.53240	0.0:0.4188:0.0:0.5812	.	124;165	E9PGM4;Q04446	.;GLGB_HUMAN	I	165;216;124	ENSP00000410833:V165I;ENSP00000419638:V124I	ENSP00000264326:V216I	V	-	1	0	GBE1	81781699	0.028000	0.19301	0.800000	0.32199	0.881000	0.50899	-0.013000	0.12678	-0.503000	0.06586	0.650000	0.86243	GTT		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			32	151	0	0	0	1	0	32	151					T	81699009	C	T	81699009	3	4	79	1	0	0	0	0	1	0	0	0	6298	507	18	2	1667	2	GBE1	3	81699009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71787	81699009	116323421	4332	14649											
GBE1	2632	broad.mit.edu	37	chr3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgatctccaggagtcTggccagttcgggcacgtcag	15	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	30					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCAGGAGTCTGGCCAGTTCG	0.677									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Aga>Gga		glucan (1,4-alpha-), branching enzyme 1							40	49	46					3																	81810581		2032	4166	6198	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81810581T>C		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.88A>G	3.37:g.81810581T>C	ENSP00000410833:p.Arg30Gly						p.R30G	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	1	731	-		Lung NSC(201;0.0117)	30					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.88A>G	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	7.770	0.707351	0.15239	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.16897	2.31	3.75	1.78	0.24846	.	0.582540	0.16218	U	0.224159	T	0.06917	0.0176	N	0.11064	0.09	0.21445	N	0.999682	B	0.11235	0.004	B	0.15484	0.013	T	0.41680	-0.9495	10	0.02654	T	1	-7.4281	8.5349	0.33357	0.0:0.0:0.5115:0.4885	.	30	Q04446	GLGB_HUMAN	G	30;81	ENSP00000410833:R30G	ENSP00000264326:R81G	R	-	1	2	GBE1	81893271	0.004000	0.15560	0.010000	0.14722	0.719000	0.41307	0.293000	0.19029	0.284000	0.22305	0.379000	0.24179	AGA		0.677	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			59	267	0	0	0	1	0	59	267					C	81810581	T	C	81810581	3	2	79	1	0	0	0	0	1	0	0	0	6298	1588	55	4	2084	4	GBE1	3	81810581	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111572	81810581	116211849	4333	14650											
GBE1	2632	broad.mit.edu	37	chr3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagttcgggcacgtcaGccagggcggcattgagcgcc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	23					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGGCACGTCAGCCAGGGCGGC	0.682									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCt>gTt		glucan (1,4-alpha-), branching enzyme 1							34	41	39					3																	81810601		2014	4163	6177	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81810601G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.68C>T	3.37:g.81810601G>A	ENSP00000410833:p.Ala23Val						p.A23V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	1	711	-		Lung NSC(201;0.0117)	23					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.68C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278638	0.23307	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.17370	2.28	3.42	3.42	0.39159	.	0.197648	0.34002	U	0.004349	T	0.13457	0.0326	L	0.40543	1.245	0.43919	D	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.27785	T	0.31	-2.5332	10.5247	0.44941	0.0:0.0:1.0:0.0	.	23	Q04446	GLGB_HUMAN	V	23;74	ENSP00000410833:A23V	ENSP00000264326:A74V	A	-	2	0	GBE1	81893291	0.069000	0.21087	0.179000	0.23059	0.093000	0.18481	1.010000	0.29898	1.906000	0.55180	0.462000	0.41574	GCT		0.682	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			52	217	0	0	0	1	0	52	217					A	81810601	G	A	81810601	3	1	79	1	0	0	0	0	1	0	0	0	6298	971	34	2	2104	2	GBE1	3	81810601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	81810601	116211829	4334	14651											
CADM2	253559	broad.mit.edu	37	chr3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctgcagagtagatcacGaatccctcaatgccacccct	6	15	4	2	rs201652066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000407528.2	+	5	684	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CADM2_ENST00000383699.3_Missense_Mutation_p.E217K|CADM2_ENST00000405615.2_Missense_Mutation_p.E210K	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	208	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAGATCACGAATCCCTCAA	0.502																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(649-651)Gaa>Aaa		cell adhesion molecule 2							107	86	93					3																	85961642		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961642G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.622G>A	3.37:g.85961642G>A	ENSP00000384575:p.Glu208Lys					CADM2_ENST00000405615.2_Missense_Mutation_p.E210K|CADM2_ENST00000407528.2_Missense_Mutation_p.E208K	p.E217K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1276	+		Lung NSC(201;0.0148)	208			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.649G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156200	0.94686	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76709	-1.04;-1.04;-1.04	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048239	0.85682	D	0.000000	T	0.77718	0.4172	L	0.27053	0.805	0.58432	D	0.999991	P;D;D	0.64830	0.882;0.979;0.994	B;P;P	0.56163	0.091;0.558;0.793	T	0.73142	-0.4076	10	0.18710	T	0.47	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	210;217;208	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	217;208;210	ENSP00000373200:E217K;ENSP00000384575:E208K;ENSP00000384193:E210K	ENSP00000373200:E217K	E	+	1	0	CADM2	86044332	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA		0.502	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		45	220	0	0	0	1	0	45	220					A	85961642	G	A	85961642	3	1	79	1	0	0	0	0	1	0	0	0	2574	1059	37	1	711	1	CADM2	3	85961642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4151041	85961642	112060788	4335	14652											
CADM2	253559	broad.mit.edu	37	chr3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccagaacctgttttgtgGacaaaggatggcggagaatt	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000407528.2	+	7	845	c.783G>A	c.(781-783)tgG>tgA	p.W261*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.W270*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(808-810)tgG>tgA		cell adhesion molecule 2							144	141	142					3																	86010637		2203	4300	6503	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010637G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.783G>A	3.37:g.86010637G>A	ENSP00000384575:p.Trp261*					CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.W261*	p.W270*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1437	+		Lung NSC(201;0.0148)	261			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.810G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.101767	0.97286	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	270;261;263	.	ENSP00000373200:W270X	W	+	3	0	CADM2	86093327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	TGG		0.348	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		118	538	0	0	0	1	0	118	538					A	86010637	G	A	86010637	4	1	79	1	0	0	0	0	0	1	0	0	2574	1183	41	2	880	2	CADM2	3	86010637	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48995	86010637	112011793	4336	14653											
VGLL3	389136	broad.mit.edu	37	chr3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgagggtggtggtgccGcatgtacacgtcatgcatat	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612																																						ENST00000398399.2																			1	Substitution - Missense(1)	p.R228W(1)	breast(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(682-684)Cgg>Tgg		vestigial like 3 (Drosophila)							92	93	93					3																	87017995		2180	4284	6464	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017995G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.682C>T	3.37:g.87017995G>A	ENSP00000381436:p.Arg228Trp					VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	p.R228W	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1045	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	228			His-rich.			Missense_Mutation	SNP	ENST00000398399.2	37	c.682C>T	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG		0.612	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		69	336	0	0	0	1	0	69	336					A	87017995	G	A	87017995	3	1	79	1	0	0	0	0	1	0	0	0	17214	1086	38	1	306	1	VGLL3	3	87017995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1007358	87017995	111004435	4337	14654											
VGLL3	389136	broad.mit.edu	37	chr3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgaattcttacctcgCcataggggggttagccccat	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(397-399)tgG>tgA		vestigial like 3 (Drosophila)							105	100	102					3																	87027680		1884	4118	6002	SO:0001587	stop_gained	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027680C>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.399G>A	3.37:g.87027680C>T	ENSP00000381436:p.Trp133*					VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	p.W133*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	762	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	133						Nonsense_Mutation	SNP	ENST00000398399.2	37	c.399G>A	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252520|4.252520	0.80135|0.80135	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52306|.	0.1726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43393|.	-0.9394|.	3|.	.|0.07175	.|T	.|0.84	-3.2935|-3.2935	18.901|18.901	0.92443|0.92443	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	67|133	.|.	.|ENSP00000373199:W133X	A|W	-|-	1|3	0|0	VGLL3|VGLL3	87110370|87110370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.766000|5.766000	0.68843|0.68843	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	GCG|TGG		0.507	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		73	430	0	0	0	1	0	73	430					T	87027680	C	T	87027680	4	4	79	1	0	0	0	0	0	1	0	0	17214	740	26	2	593	2	VGLL3	3	87027680	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9685	87027680	110994750	4338	14655											
CHMP2B	25978	broad.mit.edu	37	chr3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttgctgtaagttcaaaaGttacttctatgtctacacaa	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000263780.4	+	3	482	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	82					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTTCAAAAGTTACTTCTAT	0.368																																						ENST00000263780.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(244-246)Gtt>Ttt		charged multivesicular body protein 2B							86	90	89					3																	87294981		2203	4300	6503	SO:0001583	missense	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87294981G>T	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.244G>T	3.37:g.87294981G>T	ENSP00000263780:p.Val82Phe					CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F|CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000472024.1_3'UTR	p.V82F	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	482	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	82					B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	c.244G>T	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906911	0.92107	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.73363	-0.74;-0.74	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.984;0.984	P;D	0.63877	0.903;0.919	D	0.86798	0.1990	10	0.72032	D	0.01	-5.8634	18.3121	0.90204	0.0:0.0:1.0:0.0	.	41;82	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	F	41;82	ENSP00000419998:V41F;ENSP00000263780:V82F	ENSP00000263780:V82F	V	+	1	0	CHMP2B	87377671	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.471000	0.97696	2.297000	0.77311	0.655000	0.94253	GTT		0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		48	211	1	0	2.13384e-23	1	2.42615e-23	48	211					T	87294981	G	T	87294981	3	4	79	1	0	0	0	0	1	0	0	0	3364	1029	36	3	254	3	CHMP2B	3	87294981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267301	87294981	110727449	4339	14656											
HTR1F	3355	broad.mit.edu	37	chr3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaacaactatcaacTcccttgtgatcgctgcaatt	6	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	42					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(124-126)Tcc>Ccc		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						163	154	157					3																	88040023		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040023T>C	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.124T>C	3.37:g.88040023T>C	ENSP00000322924:p.Ser42Pro						p.S42P	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	178	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	42						Missense_Mutation	SNP	ENST00000319595.4	37	c.124T>C	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517643	0.64634	.	.	ENSG00000179097	ENST00000319595	T	0.39056	1.1	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.053859	0.85682	D	0.000000	T	0.55832	0.1945	M	0.80982	2.52	0.39807	D	0.972652	D	0.54397	0.966	P	0.50231	0.635	T	0.65401	-0.6177	10	0.66056	D	0.02	.	13.5477	0.61713	0.0:0.0:0.0:1.0	.	42	P30939	5HT1F_HUMAN	P	42	ENSP00000322924:S42P	ENSP00000322924:S42P	S	+	1	0	HTR1F	88122713	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.145000	0.71769	2.100000	0.63781	0.477000	0.44152	TCC		0.453	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		78	667	0	0	0	1	0	78	667					C	88040023	T	C	88040023	3	2	79	1	0	0	0	0	1	0	0	0	7470	1551	54	4	126	4	HTR1F	3	88040023	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	745042	88040023	109982407	4340	14657											
ZNF654	55279	broad.mit.edu	37	chr3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggatgatcaggaagtcaCtgctttggaagaaataaatt	10	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGGAAGTCACTGCTTTGGAA	0.373																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(199-201)aCt>aTt		zinc finger protein 654							85	85	85					3																	88188660		1881	4108	5989	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188660C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.200C>T	3.37:g.88188660C>T	ENSP00000312141:p.Thr67Ile					CGGBP1_ENST00000462901.1_Intron	p.T67I	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	407	+		Lung NSC(201;0.0283)	67					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.200C>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173623	0.01646	.	.	ENSG00000175105	ENST00000309495	T	0.10192	2.9	5.43	3.61	0.41365	.	0.482456	0.19907	N	0.103373	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.35671	T	0.21	.	10.8603	0.46823	0.0:0.8662:0.0:0.1338	.	67	Q8IZM8	ZN654_HUMAN	I	67	ENSP00000312141:T67I	ENSP00000312141:T67I	T	+	2	0	ZNF654	88271350	0.002000	0.14202	0.404000	0.26397	0.406000	0.30931	1.473000	0.35387	0.655000	0.30866	0.549000	0.68633	ACT		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		53	206	0	0	0	1	0	53	206					T	88188660	C	T	88188660	3	4	79	1	0	0	0	0	1	0	0	0	18120	565	20	2	202	2	ZNF654	3	88188660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148637	88188660	109833770	4341	14658											
C3orf38	285237	broad.mit.edu	37	chr3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaatcgtgagccttcGtttgctgtcactagtaaaag	10	8	1	2	rs373620957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000318887.3	+	3	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	201					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(601-603)cGt>cAt		chromosome 3 open reading frame 38		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	118	120		602	5.5	1	3		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf38	NM_173824.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	201/330	88205397	2,13004	2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205397G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.602G>A	3.37:g.88205397G>A	ENSP00000322469:p.Arg201His					C3orf38_ENST00000486971.1_3'UTR	p.R201H	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	912	+		Lung NSC(201;0.17)	201					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.602G>A	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342840	0.61073	2.27E-4	1.16E-4	ENSG00000179021	ENST00000318887	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.55743	1.74	0.80722	D	1	B	0.34349	0.45	B	0.28465	0.09	T	0.63712	-0.6575	9	0.87932	D	0	-15.7301	18.7992	0.92008	0.0:0.0:1.0:0.0	.	201	Q5JPI3	CC038_HUMAN	H	201	.	ENSP00000322469:R201H	R	+	2	0	C3orf38	88288087	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.873000	0.92357	2.751000	0.94390	0.557000	0.71058	CGT		0.423	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		120	506	0	0	0	1	0	120	506					A	88205397	G	A	88205397	3	1	79	1	0	0	0	0	1	0	0	0	2235	1145	40	1	612	1	C3orf38	3	88205397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16737	88205397	109817033	4342	14659											
C3orf38	285237	broad.mit.edu	37	chr3	88205716	88205716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttataatgtaatcactgtAtgtggtaccaatgaagtacg	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000318887.3	+	3	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	307					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(919-921)gtA>gtG		chromosome 3 open reading frame 38							70	74	73					3																	88205716		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88205716A>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.921A>G	3.37:g.88205716A>G						C3orf38_ENST00000486971.1_3'UTR	p.V307V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	1231	+		Lung NSC(201;0.17)	307					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.921A>G	CCDS2921.2																																																																																				0.398	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		35	299	0	0	0	1	0	35	299					G	88205716	A	G	88205716	2	3	79	1	0	0	0	0	0	0	0	1	2235	436	16	4		4	C3orf38	3	88205716	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	88205716	109816714	4343	14660											
PROS1	5627	broad.mit.edu	37	chr3	93611924	93611924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctgcgtacagtatcacGccttctgaatcatatgtccg	8	11	4	1	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> D (in THPH5). {ECO:0000269|PubMed:15712227}.|G -> S (in THPH5). {ECO:0000269|PubMed:9241758}.|G -> V (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). {ECO:0000269|PubMed:11858485}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAGTATCACGCCTTCTGAAT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.0					ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1006-1008)ggC>ggT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	G		1,4405	2.1+/-5.4	0,1,2202	69	65	66		1008	-1.5	1	3	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	PROS1	NM_000313.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		336/677	93611924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611924G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1008C>T	3.37:g.93611924G>A						PROS1_ENST00000407433.1_Silent_p.G205G	p.G336G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			10	1324	-			336		G -> D (in PROS1D).|G -> S (in PROS1D).|G -> V (in PROS1D; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found).	Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.1008C>T	CCDS2923.1																																																																																				0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		46	172	0	0	0	1	0	46	172					A	93611924	G	A	93611924	2	1	79	1	0	0	0	0	0	0	0	1	12605	1074	38	1		1	PROS1	3	93611924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5406208	93611924	104410506	4344	14661											
PROS1	5627	broad.mit.edu	37	chr3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgtttacctcacaactCttctgatcttgggcaagttt	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCACAACTCTTCTGATCTT	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(838-840)aaG>aaT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						99	93	95					3																	93617301		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93617301C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.840G>T	3.37:g.93617301C>A	ENSP00000377783:p.Lys280Asn					PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	p.K280N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			8	1156	-			280			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.840G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768117	0.15983	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	PROS1	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		59	252	1	0	5.10508e-28	1	5.92589e-28	59	252					A	93617301	C	A	93617301	3	1	79	1	0	0	0	0	1	0	0	0	12605	912	32	3	1222	3	PROS1	3	93617301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5377	93617301	104405129	4345	14662											
EPHA6	285220	broad.mit.edu	37	chr3	96706372	96706372	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtcttggggacttgcaaaGaaacatttaatctgttttat	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	ENST00000389672.5	+	3	687	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	123						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(649-651)Gaa>Taa		EPH receptor A6							110	112	111					3																	96706372		1861	4085	5946	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706372G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.649G>T	3.37:g.96706372G>T	ENSP00000374323:p.Glu217*					EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	687	+			122					D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	c.649G>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798593|4.798593	0.90538|0.90538	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74435	.|-0.3666	.|4	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	217;217;123|161	.|.	ENSP00000374323:E217X|.	E|R	+|+	1|2	0|0	EPHA6|EPHA6	98189062|98189062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		45	561	1	0	2.00842e-17	1	2.21757e-17	45	561					T	96706372	G	T	96706372	4	4	79	1	0	0	0	0	0	1	0	0	5189	943	33	3	659	3	EPHA6	3	96706372	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3089071	96706372	101316058	4346	14663											
EPHA6	285220	broad.mit.edu	37	chr3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccagtatacaaagatcGacacaattgctgctgatgag	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	149						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAAAGATCGACACAATTGC	0.413																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(727-729)Gac>Aac		EPH receptor A6							180	183	182					3																	96706450		1878	4137	6015	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706450G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.727G>A	3.37:g.96706450G>A	ENSP00000374323:p.Asp243Asn					EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	765	+			148					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.727G>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.988862|4.988862	0.93106|0.93106	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04917|.	3.53;3.53;3.53|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.87367|0.87367	0.2348|0.2348	10|5	0.87932|.	D|.	0|.	.|.	18.9232|18.9232	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243|.	B3KS12;E7EU71|.	.;.|.	N|Q	243;243;149|187	ENSP00000420598:D243N;ENSP00000374323:D243N;ENSP00000439758:D149N|.	ENSP00000374323:D243N|.	D|R	+|+	1|2	0|0	EPHA6|EPHA6	98189140|98189140	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		206	897	0	0	0	1	0	206	897					A	96706450	G	A	96706450	3	1	79	1	0	0	0	0	1	0	0	0	5189	1058	37	1	737	1	EPHA6	3	96706450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	96706450	101315980	4347	14664											
CRYBG3	131544	broad.mit.edu	37	chr3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgacagctcacaggAggacattctatctagtgagg	13	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2096							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(442-444)gAg>gCg		beta-gamma crystallin domain containing 3							89	87	88					3																	97596325		1921	4132	6053	SO:0001583	missense	131544							g.chr3:97596325A>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.443A>C	3.37:g.97596325A>C	ENSP00000182096:p.Glu148Ala						p.E148A	NM_153605.3	NP_705833.3					1	507	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.443A>C		.	.	.	.	.	.	.	.	.	.	A	21.8	4.201890	0.79127	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.9	0.94986	.	0.093992	0.45606	D	0.000355	T	0.77438	0.4130	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51895	0.683	T	0.80346	-0.1421	10	0.87932	D	0	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	148	Q68DQ2	CRBG3_HUMAN	A	148	ENSP00000182096:E148A	ENSP00000182096:E148A	E	+	2	0	CRYBG3	99079015	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.660000	0.68018	2.266000	0.75297	0.528000	0.53228	GAG		0.428	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		89	360	0	0	0	1	0	89	360					C	97596325	A	C	97596325	3	2	79	1	0	0	0	0	1	0	0	0	3922	304	11	4	445	4	CRYBG3	3	97596325	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	889875	97596325	100426105	4348	14665											
CRYBG3	131544	broad.mit.edu	37	chr3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacagcattcagcagatgGaaaacaattggttccctccg	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2824							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2626-2628)tgG>tgA		beta-gamma crystallin domain containing 3							92	82	85					3																	97655719		1857	4108	5965	SO:0001587	stop_gained	131544							g.chr3:97655719G>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2628G>A	3.37:g.97655719G>A	ENSP00000182096:p.Trp876*					CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	p.W876*	NM_153605.3	NP_705833.3					16	2692	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Nonsense_Mutation	SNP	ENST00000182096.4	37	c.2628G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.439729	0.98286	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	.	.	.	5.54	5.54	0.83059	.	1.814360	0.02012	N	0.047103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1055	0.93293	0.0:0.0:1.0:0.0	.	.	.	.	X	876;82;83	.	ENSP00000182096:W876X	W	+	3	0	CRYBG3	99138409	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.332000	0.72934	2.609000	0.88269	0.655000	0.94253	TGG		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		58	265	0	0	0	1	0	58	265					A	97655719	G	A	97655719	4	1	79	1	0	0	0	0	0	1	0	0	3922	1183	41	2	2690	2	CRYBG3	3	97655719	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59394	97655719	100366711	4349	14666											
GABRR3	200959	broad.mit.edu	37	chr3	97711701	97711701	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaggctgtacctttcCtgtcttcttgaattgtttcc	8	10	2	2	rs200418880		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	ENST00000472788.1	-	0	1100					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTACCTTTCCTGTCTTCTTG	0.473																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							225	219	221					3																	97711701		2001	4188	6189			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97711701C>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97711701C>A								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	1100	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.473	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			150	685	1	0	1.60144e-67	1	2.02885e-67	150	685					A	97711701	C	A	97711701	1	1	79	0	1	0	0	0	0	0	0	0	6205	690	24	3		3	GABRR3	3	97711701	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55982	97711701	100310729	4350	14667											
GABRR3	200959	broad.mit.edu	37	chr3	97720488	97720488	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgcaggaacagctcttCggtcaatccaaaatgaaacc	7	12	3	1	rs375712400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	ENST00000472788.1	-	0	879					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AACAGCTCTTCGGTCAATCCA	0.403																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3		C	GLN/ARG	0,3710		0,0,1855	90	83	85		878	0.5	0.9	3		85	2,8198		0,2,4098	no	missense	GABRR3	NM_001105580.2	43	0,2,5953	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	293/468	97720488	2,11908	1855	4100	5955			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97720488C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97720488C>T								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	879	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			45	160	0	0	0	1	0	45	160					T	97720488	C	T	97720488	1	4	79	0	1	0	0	0	0	0	0	0	6205	884	31	1		1	GABRR3	3	97720488	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8787	97720488	100301942	4351	14668											
GABRR3	200959	broad.mit.edu	37	chr3	97736563	97736563	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctatacctactggcactggaGacccttaagaaagaagaatg	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97736563G>T	ENST00000472788.1	-	0	243					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGGCACTGGAGACCCTTAAGA	0.353																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							68	61	63					3																	97736563		1832	4101	5933			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97736563G>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97736563G>T								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	243	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.353	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			4	73	1	0	1.024e-07	1	1.06599e-07	4	73					T	97736563	G	T	97736563	1	4	79	0	1	0	0	0	0	0	0	0	6205	942	33	3		3	GABRR3	3	97736563	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	97736563	100285867	4352	14669											
OR5AC2	81050	broad.mit.edu	37	chr3	97806194	97806194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacccccatcttcatatgCccatgtacttattccttggt	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97806194C>T	ENST00000358642.2	+	1	178	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	60					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.P60F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTCATATGCCCATGTACTT	0.433																																						ENST00000358642.2																			1	Substitution - Missense(1)	p.P60F(1)	skin(1)	endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(178-180)Ccc>Tcc		olfactory receptor, family 5, subfamily AC, member 2							297	278	285					3																	97806194		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806194C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.178C>T	3.37:g.97806194C>T	ENSP00000351466:p.Pro60Ser						p.P60S	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	178	+			60						Missense_Mutation	SNP	ENST00000358642.2	37	c.178C>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694621	0.68386	.	.	ENSG00000196578	ENST00000358642	T	0.02015	4.5	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.18593	0.0446	M	0.92412	3.305	0.41357	D	0.987405	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.72032	D	0.01	-33.5828	16.4072	0.83684	0.0:1.0:0.0:0.0	.	60	Q9NZP5	O5AC2_HUMAN	S	60	ENSP00000351466:P60S	ENSP00000351466:P60S	P	+	1	0	OR5AC2	99288884	1.000000	0.71417	0.946000	0.38457	0.237000	0.25408	5.592000	0.67543	2.470000	0.83445	0.596000	0.82720	CCC		0.433	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			33	1070	0	0	0	1	0	33	1070					T	97806194	C	T	97806194	3	4	79	1	0	0	0	0	1	0	0	0	11183	739	26	2	180	2	OR5AC2	3	97806194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69631	97806194	100216236	4353	14670											
OR5H1	26341	broad.mit.edu	37	chr3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagccattatgaccaatgGactgtgcatccggctattaa	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(415-417)gGa>gTa		olfactory receptor, family 5, subfamily H, member 1							70	78	75					3																	97851957		2183	4267	6450	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851957G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.416G>T	3.37:g.97851957G>T	ENSP00000346575:p.Gly139Val					RP11-343D2.11_ENST00000508964.1_RNA	p.G139V	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	416	+			139						Missense_Mutation	SNP	ENST00000354565.2	37	c.416G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733512	0.03111	.	.	ENSG00000231192	ENST00000354565	T	0.37235	1.21	3.57	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.262517	0.26911	N	0.021867	T	0.24044	0.0582	L	0.33668	1.02	0.09310	N	1	B	0.23806	0.091	B	0.25759	0.063	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.4464	0.16537	0.3814:0.0:0.6186:0.0	.	139	A6NKK0	OR5H1_HUMAN	V	139	ENSP00000346575:G139V	ENSP00000346575:G139V	G	+	2	0	OR5H1	99334647	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.955000	0.03869	0.197000	0.20387	0.195000	0.17529	GGA		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		93	553	1	0	2.84102e-47	1	3.49602e-47	93	553					T	97851957	G	T	97851957	3	4	79	1	0	0	0	0	1	0	0	0	11201	1174	41	3	418	3	OR5H1	3	97851957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45763	97851957	100170473	4354	14671											
OR5H14	403273	broad.mit.edu	37	chr3	97868310	97868310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtggaaaatacccctGttcctggcattcttggtaat	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	ENST00000437310.1	+	1	141	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATACCCCTGTTCCTGGCAT	0.423																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(79-81)ctG>ctA		olfactory receptor, family 5, subfamily H, member 14							82	86	85					3																	97868310		2202	4279	6481	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868310G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.81G>A	3.37:g.97868310G>A							p.L27L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	141	+			27					B9EH15	Silent	SNP	ENST00000437310.1	37	c.81G>A	CCDS33798.1																																																																																				0.423	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			102	964	0	0	0	1	0	102	964					A	97868310	G	A	97868310	2	1	79	1	0	0	0	0	0	0	0	1	11202	1364	48	2		2	OR5H14	3	97868310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16353	97868310	100154120	4355	14672											
OR5H14	403273	broad.mit.edu	37	chr3	97868645	97868645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagccattatgaccaatgGactgtgcatccggctattaa	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868645G>T	ENST00000437310.1	+	1	476	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGACCAATGGACTGTGCATC	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(415-417)gGa>gTa		olfactory receptor, family 5, subfamily H, member 14							109	116	114					3																	97868645		2202	4297	6499	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868645G>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.416G>T	3.37:g.97868645G>T	ENSP00000401706:p.Gly139Val						p.G139V	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	476	+			139					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.416G>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081066	0.08533	.	.	ENSG00000236032	ENST00000437310	T	0.37235	1.21	2.49	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.263956	0.26765	N	0.022614	T	0.22936	0.0554	L	0.37850	1.14	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.15636	-1.0430	10	0.62326	D	0.03	.	3.1544	0.06499	0.2863:0.2291:0.4847:0.0	.	139	A6NHG9	O5H14_HUMAN	V	139	ENSP00000401706:G139V	ENSP00000401706:G139V	G	+	2	0	OR5H14	99351335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.530000	0.02221	-0.037000	0.13646	-1.098000	0.02139	GGA		0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			12	771	1	0	1.87028e-06	1	1.92935e-06	12	771					T	97868645	G	T	97868645	3	4	79	1	0	0	0	0	1	0	0	0	11202	1174	41	3	418	3	OR5H14	3	97868645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	97868645	100153785	4356	14673											
OR5H6	79295	broad.mit.edu	37	chr3	97983282	97983282	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcattcttggtaatatatCtcatcaccatcatggggaat	8	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	ENST00000383696.2	+	1	195	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGTAATATATCTCATCACCAT	0.403																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(154-156)Ctc>Atc		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							217	225	222					3																	97983282		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983282C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.154C>A	3.37:g.97983282C>A	ENSP00000373196:p.Leu52Ile					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L52I	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	195	+			52					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.154C>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	8.244	0.807484	0.16467	.	.	ENSG00000230301	ENST00000383696	T	0.05199	3.48	2.19	1.28	0.21552	.	0.620544	0.13384	N	0.391886	T	0.07548	0.0190	L	0.54908	1.71	0.09310	N	1	B	0.27679	0.185	B	0.31191	0.125	T	0.30679	-0.9970	10	0.42905	T	0.14	.	6.7748	0.23615	0.0:0.8398:0.0:0.1602	.	52	Q8NGV6	OR5H6_HUMAN	I	52	ENSP00000373196:L52I	ENSP00000373196:L52I	L	+	1	0	OR5H6	99465972	0.000000	0.05858	0.010000	0.14722	0.086000	0.17979	-1.962000	0.01514	0.251000	0.21505	0.194000	0.17425	CTC		0.403	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			143	1425	1	0	5.71386e-39	1	6.9007e-39	143	1425					A	97983282	C	A	97983282	3	1	79	1	0	0	0	0	1	0	0	0	11205	913	32	3	156	3	OR5H6	3	97983282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114637	97983282	100039148	4357	14674											
OR5K1	26339	broad.mit.edu	37	chr3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatatttacacaccgtcGgcttcacacaccaatgtaca	5	13	1	1	rs372270718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.001					ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(160-162)cGg>cAg		olfactory receptor, family 5, subfamily K, member 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270	267	268		161	-8	0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188581G>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.161G>A	3.37:g.98188581G>A	ENSP00000373193:p.Arg54Gln						p.R54Q	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	258	+			54					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.161G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG		0.453	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			266	1096	0	0	0	1	0	266	1096					A	98188581	G	A	98188581	3	1	79	1	0	0	0	0	1	0	0	0	11208	1116	39	1	163	1	OR5K1	3	98188581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205299	98188581	99833849	4358	14675											
CLDND1	56650	broad.mit.edu	37	chr3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttgctcatgccacaCgatatgccttcattaaggtg	8	10	3	0	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000503004.1	-	5	1631	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000508503.1_5'Flank			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	251						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(751-753)cGt>cAt		claudin domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85	74	78		752,821,752,752,467,752	5.2	0.8	3	dbSNP_134	78	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	29,29,29,29,29,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/254,274/277,251/254,251/254,156/159,251/254	98235513	6,13000	2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235513C>T	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.752G>A	3.37:g.98235513C>T	ENSP00000421226:p.Arg251His					CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H	p.R251H			Q9NY35	CLDN1_HUMAN			5	1631	-			251					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.752G>A	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604808	0.28623	0.0	6.98E-4	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287	T;T;T;T;T;T;T;T;T	0.38077	1.52;1.46;1.52;1.52;1.52;1.52;1.52;1.16;1.52	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.58268	0.982;0.982	P;P	0.44921	0.459;0.464	T	0.08597	-1.0714	10	0.52906	T	0.07	-14.3194	13.1986	0.59754	0.0:0.9234:0.0:0.0766	.	156;251	F2Z2D9;Q9NY35	.;CLDN1_HUMAN	H	251;274;251;251;251;251;251;156;251	ENSP00000340247:R251H;ENSP00000388457:R274H;ENSP00000377734:R251H;ENSP00000421226:R251H;ENSP00000377739:R251H;ENSP00000377735:R251H;ENSP00000423590:R251H;ENSP00000424669:R156H;ENSP00000426869:R251H	ENSP00000340247:R251H	R	-	2	0	CLDND1	99718203	1.000000	0.71417	0.760000	0.31359	0.019000	0.09904	5.644000	0.67902	1.561000	0.49584	0.655000	0.94253	CGT		0.398	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		39	182	0	0	0	1	0	39	182					T	98235513	C	T	98235513	3	4	79	1	0	0	0	0	1	0	0	0	3502	536	19	1	13	1	CLDND1	3	98235513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46932	98235513	99786917	4359	14676											
CPOX	1371	broad.mit.edu	37	chr3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaccattttttaaatTtggggtagagatctggacca	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	314					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTTTTTAAATTTGGGGTAGAG	0.403																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(940-942)aAa>aCa		coproporphyrinogen oxidase							99	101	100					3																	98307569		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98307569T>G	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.941A>C	3.37:g.98307569T>G	ENSP00000264193:p.Lys314Thr						p.K314T	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			4	1159	-			314					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.941A>C	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121857	0.56613	.	.	ENSG00000080819	ENST00000264193	D	0.93953	-3.32	5.74	4.59	0.56863	.	0.090735	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58354	1.805	0.47737	D	0.999503	P	0.36874	0.572	B	0.42361	0.385	D	0.90848	0.4729	10	0.59425	D	0.04	-16.4938	10.0387	0.42144	0.0:0.0795:0.0:0.9205	.	314	P36551	HEM6_HUMAN	T	314	ENSP00000264193:K314T	ENSP00000264193:K314T	K	-	2	0	CPOX	99790259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.919000	0.56439	1.121000	0.41925	0.460000	0.39030	AAA		0.403	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	351	0	0	0	1	0	13	351					G	98307569	T	G	98307569	3	3	79	1	0	0	0	0	1	0	0	0	3830	1841	64	4	439	4	CPOX	3	98307569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72056	98307569	99714861	4360	14677											
DCBLD2	131566	broad.mit.edu	37	chr3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttgtgtgctctgtgGcacctggtacaccaattcgt	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	753					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2257-2259)Cca>Tca		discoidin, CUB and LCCL domain containing 2							216	214	215					3																	98518287		1954	4160	6114	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518287G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2257C>T	3.37:g.98518287G>A	ENSP00000321573:p.Pro753Ser					DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	p.P753S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2619	-			753					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.2257C>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103204	0.76983	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.30182	1.54;1.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.57142	-0.7862	10	0.51188	T	0.08	-16.0329	18.0345	0.89296	0.0:0.0:1.0:0.0	.	767;753	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	753;767	ENSP00000321573:P753S;ENSP00000321646:P767S	ENSP00000321573:P753S	P	-	1	0	DCBLD2	100000977	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.608000	0.90895	2.865000	0.98341	0.655000	0.94253	CCA		0.507	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		200	879	0	0	0	1	0	200	879					A	98518287	G	A	98518287	3	1	79	1	0	0	0	0	1	0	0	0	4292	1203	42	2	74	2	DCBLD2	3	98518287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210718	98518287	99504143	4361	14678											
DCBLD2	131566	broad.mit.edu	37	chr3	98518306	98518306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctggtacaccaattcGtctggggcaggtagacctgg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	746					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502																																						ENST00000326840.6																			1	Substitution - coding silent(1)	p.D746D(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2236-2238)gaC>gaT		discoidin, CUB and LCCL domain containing 2							203	203	203					3																	98518306		1957	4150	6107	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518306G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2238C>T	3.37:g.98518306G>A						DCBLD2_ENST00000326857.9_Silent_p.D760D	p.D746D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2600	-			746					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.2238C>T	CCDS46878.1																																																																																				0.502	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		191	880	0	0	0	1	0	191	880					A	98518306	G	A	98518306	2	1	79	1	0	0	0	0	0	0	0	1	4292	1136	40	1		1	DCBLD2	3	98518306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	98518306	99504124	4362	14679											
DCBLD2	131566	broad.mit.edu	37	chr3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagccaaagaactttcataAtaggggatacctttactaat	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	264	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(790-792)taT>taG		discoidin, CUB and LCCL domain containing 2							66	59	61					3																	98541110		1893	4123	6016	SO:0001587	stop_gained	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98541110A>C		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.792T>G	3.37:g.98541110A>C	ENSP00000321573:p.Tyr264*					DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*	p.Y264*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			6	1154	-			264			LCCL.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Nonsense_Mutation	SNP	ENST00000326840.6	37	c.792T>G	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	37	6.508712	0.97624	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.83	4.01	0.46588	.	0.252743	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9355	7.1549	0.25632	0.2823:0.0:0.7177:0.0	.	.	.	.	X	264;218;264	.	ENSP00000321573:Y264X	Y	-	3	2	DCBLD2	100023800	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.362000	0.44169	0.764000	0.33197	-0.472000	0.04984	TAT		0.393	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		30	130	0	0	0	1	0	30	130					C	98541110	A	C	98541110	4	2	79	1	0	0	0	0	0	1	0	0	4292	108	4	4	1579	4	DCBLD2	3	98541110	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22804	98541110	99481320	4363	14680											
DCBLD2	131566	broad.mit.edu	37	chr3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagagtatgaggccaaaaatCcgcgtccagaaacatggatt	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	179	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(535-537)gGa>gTa		discoidin, CUB and LCCL domain containing 2							126	120	122					3																	98568340		1866	4097	5963	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98568340C>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.536G>T	3.37:g.98568340C>A	ENSP00000321573:p.Gly179Val					DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	p.G179V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			3	898	-			179			CUB.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.536G>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386978	0.82902	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	CUB (5);	0.102412	0.64402	D	0.000002	T	0.78104	0.4231	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87734	0.2581	10	0.87932	D	0	-19.3988	17.1542	0.86785	0.0:1.0:0.0:0.0	.	179;179	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	179;133;179;73	ENSP00000321573:G179V;ENSP00000321646:G179V;ENSP00000396803:G73V	ENSP00000321573:G179V	G	-	2	0	DCBLD2	100051030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.648000	0.89879	0.655000	0.94253	GGA		0.353	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		56	260	1	0	7.71302e-15	1	8.39765e-15	56	260					A	98568340	C	A	98568340	3	1	79	1	0	0	0	0	1	0	0	0	4292	855	30	3	1847	3	DCBLD2	3	98568340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27230	98568340	99454090	4364	14681											
COL8A1	1295	broad.mit.edu	37	chr3	99514881	99514881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcaggcccggagaCcgggtgttcctccagatgcc	13	15	1	2	rs567228826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2134-2136)gaC>gaT		collagen, type VIII, alpha 1							40	39	39					3																	99514881		2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514881C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2136C>T	3.37:g.99514881C>T						COL8A1_ENST00000273342.4_Silent_p.D712D	p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2516	+			712			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.2136C>T	CCDS2934.1																																																																																				0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		51	220	0	0	0	1	0	51	220					T	99514881	C	T	99514881	2	4	79	1	0	0	0	0	0	0	0	1	3714	506	18	2		2	COL8A1	3	99514881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	946541	99514881	98507549	4365	14682											
FILIP1L	84319	broad.mit.edu	37	chr3	99567134	99567134	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcagttatatatattaCttactgtaatttgtgattgt	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567134C>A	ENST00000421999.2	+	1	210				FILIP1L_ENST00000331335.5_Missense_Mutation_p.S1129I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000354552.3_Intron|FILIP1L_ENST00000471562.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										ATATATATTACTTACTGTAAT	0.398																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(3385-3387)aGt>aTt		filamin A interacting protein 1-like							281	271	274					3																	99567134		1966	4145	6111	SO:0001627	intron_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567134C>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.64+30247C>A	3.37:g.99567134C>A						FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Intron|CMSS1_ENST00000496116.1_Intron	p.S1129I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3856	-			0					A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.3386G>T	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354763	0.41700	.	.	ENSG00000168386	ENST00000331335;ENST00000383694;ENST00000441620	T;T	0.24151	2.19;1.87	5.79	5.79	0.91817	.	.	.	.	.	T	0.34395	0.0896	N	0.08118	0	0.50813	D	0.999893	D	0.89917	1.0	D	0.74674	0.984	T	0.46345	-0.9198	9	0.87932	D	0	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	1129	Q4L180-2	.	I	1129;889;875	ENSP00000327880:S1129I;ENSP00000373192:S889I	ENSP00000327880:S1129I	S	-	2	0	FILIP1L	101049824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.746000	0.94184	0.655000	0.94253	AGT		0.398	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		120	497	1	0	8.39346e-61	1	1.05608e-60	120	497					A	99567134	C	A	99567134	1	1	79	0	1	0	0	0	0	0	0	0	5920	565	20	3		3	FILIP1L	3	99567134	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52253	99567134	98455296	4366	14683											
FILIP1L	11259	broad.mit.edu	37	chr3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacagggctggctacagCttgcatgtaaggacttccta	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000354552.3	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1073T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1073						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGCTACAGCTTGCATGTAA	0.448																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(3217-3219)Gct>Act		filamin A interacting protein 1-like							238	241	240					3																	99567303		2097	4233	6330	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567303C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3217G>A	3.37:g.99567303C>T	ENSP00000346560:p.Ala1073Thr					FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A1073T|CMSS1_ENST00000496116.1_Intron	p.A1073T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3687	-			1073					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.3217G>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524408	0.27299	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24538	2.24;1.92;1.92;2.24;1.92;1.85	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000079	T	0.16171	0.0389	N	0.22421	0.69	0.39866	D	0.973442	B;B	0.31193	0.312;0.208	B;B	0.29524	0.103;0.048	T	0.10965	-1.0607	10	0.11485	T	0.65	-11.442	12.7881	0.57518	0.0:0.9256:0.0:0.0744	.	1073;1073	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	52;1073;649;833;1073;833;819;833	ENSP00000346560:A1073T;ENSP00000417774:A649T;ENSP00000419642:A833T;ENSP00000327880:A1073T;ENSP00000373192:A833T;ENSP00000419874:A833T	ENSP00000327880:A1073T	A	-	1	0	FILIP1L	101049993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.826000	0.97356	0.655000	0.94253	GCT		0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		167	758	0	0	0	1	0	167	758					T	99567303	C	T	99567303	3	4	79	1	0	0	0	0	1	0	0	0	5920	797	28	2	219	2	FILIP1L	3	99567303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	99567303	98455127	4367	14684											
FILIP1L	11259	broad.mit.edu	37	chr3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttgtacatggtctggaGtaacctttatatgaagtggc	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000354552.3	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T907I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	907						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGGTCTGGAGTAACCTTTAT	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2719-2721)aCt>aTt		filamin A interacting protein 1-like							228	225	226					3																	99567800		2033	4185	6218	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567800G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2720C>T	3.37:g.99567800G>A	ENSP00000346560:p.Thr907Ile					FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T907I|CMSS1_ENST00000496116.1_Intron	p.T907I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3190	-			907					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2720C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716834	0.48622	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.86;1.02;1.53;1.86;1.53;1.57	6.11	5.24	0.73138	.	0.000000	0.53938	D	0.000050	T	0.62502	0.2433	M	0.62723	1.935	0.43824	D	0.996392	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.66143	-0.5997	10	0.72032	D	0.01	-14.1944	15.423	0.75028	0.0661:0.0:0.9339:0.0	.	907;907	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	907;483;667;907;667;653;667	ENSP00000346560:T907I;ENSP00000417774:T483I;ENSP00000419642:T667I;ENSP00000327880:T907I;ENSP00000373192:T667I;ENSP00000419874:T667I	ENSP00000327880:T907I	T	-	2	0	FILIP1L	101050490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	1.605000	0.50152	0.609000	0.83330	ACT		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		202	887	0	0	0	1	0	202	887					A	99567800	G	A	99567800	3	1	79	1	0	0	0	0	1	0	0	0	5920	1029	36	2	716	2	FILIP1L	3	99567800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	99567800	98454630	4368	14685											
C3orf26	84319	broad.mit.edu	37	chr3	99886649	99886649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggtcctgatgctgatcatCtgcagctcggccgtccgagc	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99886649C>T	ENST00000421999.2	+	6	629	c.483C>T	c.(481-483)atC>atT	p.I161I	CMSS1_ENST00000489081.1_Silent_p.I143I	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	161							poly(A) RNA binding (GO:0044822)										TGCTGATCATCTGCAGCTCGG	0.403																																						ENST00000421999.2																			0											c.(481-483)atC>atT		cms1 ribosomal small subunit homolog (yeast)							154	160	158					3																	99886649		2203	4300	6503	SO:0001819	synonymous_variant	84319							g.chr3:99886649C>T		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.483C>T	3.37:g.99886649C>T						CMSS1_ENST00000489081.1_Silent_p.I143I	p.I161I	NM_032359.3	NP_115735.2					6	629	+								A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.483C>T	CCDS2935.1																																																																																				0.403	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		15	401	0	0	0	1	0	15	401					T	99886649	C	T	99886649	2	4	79	1	0	0	0	0	0	0	0	1	2225	903	32	2		2	C3orf26	3	99886649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318849	99886649	98135781	4369	14686											
TOMM70A	9868	broad.mit.edu	37	chr3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttcaacttgatcaaGgagtattttcagctaagaaa	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	414					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1240-1242)Ctt>Att		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							109	105	106					3																	100092477		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100092477G>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1240C>A	3.37:g.100092477G>T	ENSP00000284320:p.Leu414Ile						p.L414I	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			8	1688	-			414					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1240C>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085829	0.76642	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.64991	-0.13	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.76938	2.355	0.80722	D	1	P	0.51791	0.948	P	0.50570	0.644	T	0.74182	-0.3748	10	0.56958	D	0.05	-8.5736	13.4529	0.61182	0.0712:0.0:0.9288:0.0	.	414	O94826	TOM70_HUMAN	I	414;307	ENSP00000284320:L414I	ENSP00000284320:L414I	L	-	1	0	TOMM70A	101575167	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.954000	0.70298	2.783000	0.95769	0.655000	0.94253	CTT		0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			63	290	1	0	2.01871e-26	1	2.32709e-26	63	290					T	100092477	G	T	100092477	3	4	79	1	0	0	0	0	1	0	0	0	16415	1000	35	3	606	3	TOMM70A	3	100092477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205828	100092477	97929953	4370	14687											
TOMM70A	9868	broad.mit.edu	37	chr3	100103350	100103350	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttggctttctctttTccaaggagtttaagaacttt	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	236					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(706-708)ggA>ggT		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							125	125	125					3																	100103350		2202	4300	6502	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100103350T>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.708A>T	3.37:g.100103350T>A							p.G236G	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			4	1156	-			236					D3DN48	Silent	SNP	ENST00000284320.5	37	c.708A>T	CCDS33807.1																																																																																				0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			68	333	0	0	0	1	0	68	333					A	100103350	T	A	100103350	2	1	79	1	0	0	0	0	0	0	0	1	16415	1770	62	5		5	TOMM70A	3	100103350	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10873	100103350	97919080	4371	14688											
LNP1	348801	broad.mit.edu	37	chr3	100170652	100170652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatgccgtagccacgtAcgggattacagaaaatactc	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(244-246)gtA>gtG		leukemia NUP98 fusion partner 1							101	92	95					3																	100170652		1876	4094	5970	SO:0001819	synonymous_variant	348801							g.chr3:100170652A>G		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.246A>G	3.37:g.100170652A>G						LNP1_ENST00000489752.1_Silent_p.V95V	p.V82V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			3	1526	+			82					B7ZLT3	Silent	SNP	ENST00000383693.3	37	c.246A>G	CCDS43120.1																																																																																				0.443	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			71	305	0	0	0	1	0	71	305					G	100170652	A	G	100170652	2	3	79	1	0	0	0	0	0	0	0	1	8896	378	14	4		4	LNP1	3	100170652	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67302	100170652	97851778	4372	14689											
TMEM45A	55076	broad.mit.edu	37	chr3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgttggaatgaattatgCtttcattacctggtaagtta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000323523.4	+	5	1035	c.722C>A	c.(721-723)gCt>gAt	p.A241D	TMEM45A_ENST00000403410.1_Missense_Mutation_p.A257D	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	241						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.(769-771)gCt>gAt		transmembrane protein 45A							252	241	244					3																	100287799		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100287799C>A	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.722C>A	3.37:g.100287799C>A	ENSP00000319009:p.Ala241Asp					TMEM45A_ENST00000323523.4_Missense_Mutation_p.A241D	p.A257D			Q9NWC5	TM45A_HUMAN			7	1390	+			241					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.770C>A	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642226	0.29157	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.46819	0.86;0.86	5.81	1.73	0.24493	.	0.392722	0.31061	N	0.008325	T	0.52533	0.1740	M	0.75447	2.3	0.20563	N	0.999889	D	0.55800	0.973	P	0.52856	0.711	T	0.44143	-0.9347	10	0.36615	T	0.2	-2.4107	6.2562	0.20876	0.0:0.5907:0.1208:0.2885	.	241	Q9NWC5	TM45A_HUMAN	D	241;257	ENSP00000319009:A241D;ENSP00000385089:A257D	ENSP00000319009:A241D	A	+	2	0	TMEM45A	101770489	0.332000	0.24722	0.012000	0.15200	0.057000	0.15508	0.324000	0.19610	0.032000	0.15435	0.555000	0.69702	GCT		0.353	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		167	747	1	0	7.1496e-87	1	9.16847e-87	167	747					A	100287799	C	A	100287799	3	1	79	1	0	0	0	0	1	0	0	0	16221	797	28	3	736	3	TMEM45A	3	100287799	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117147	100287799	97734631	4373	14690											
GPR128	84873	broad.mit.edu	37	chr3	100378676	100378676	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctgtggaagaataaccaGaacctgacaaggtaagattc	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000273352.3	+	14	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Silent_p.Q361Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	656					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)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGAATAACCAGAACCTGACAA	0.438																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1966-1968)caG>caA		G protein-coupled receptor 128							134	125	128					3																	100378676		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100378676G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1968G>A	3.37:g.100378676G>A						GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	p.Q656Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			14	2236	+			656					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1968G>A	CCDS2938.1																																																																																				0.438	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			48	258	0	0	0	1	0	48	258					A	100378676	G	A	100378676	2	1	79	1	0	0	0	0	0	0	0	1	6670	933	33	2		2	GPR128	3	100378676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90877	100378676	97643754	4374	14691											
TFG	10342	broad.mit.edu	37	chr3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagtccaccatgaacGgacagttggatctaagtggg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	3					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"E, L"	"NTRK1, ALK"		"papillary thyroid, ALCL, NSCLC"	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	1	Substitution - Nonsense(1)	p.G3*(1)	lung(1)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(7-9)Gga>Aga		TRK-fused gene							98	93	94					3																	100432536		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432536G>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.7G>A	3.37:g.100432536G>A	ENSP00000240851:p.Gly3Arg					TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			2	347	+			3					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.7G>A	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102352	0.94245	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58880	-0.7558	10	0.62326	D	0.03	-10.1794	20.2985	0.98592	0.0:0.0:1.0:0.0	.	3;3	G5E9V1;Q92734	.;TFG_HUMAN	R	3	ENSP00000397182:G3R;ENSP00000419960:G3R;ENSP00000240851:G3R;ENSP00000419559:G3R;ENSP00000417952:G3R;ENSP00000419504:G3R;ENSP00000420797:G3R	ENSP00000240851:G3R	G	+	1	0	TFG	101915226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.167000	0.94773	2.793000	0.96121	0.655000	0.94253	GGA		0.353	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		86	321	0	0	0	1	0	86	321					A	100432536	G	A	100432536	3	1	79	1	0	0	0	0	1	0	0	0	15858	1117	39	1	9	1	TFG	3	100432536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53860	100432536	97589894	4375	14692											
TFG	10342	broad.mit.edu	37	chr3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccacctggagaaccaGgaccttccaccaatattcct	7	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	130					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"E, L"	"NTRK1, ALK"		"papillary thyroid, ALCL, NSCLC"	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(388-390)Gga>Tga		TRK-fused gene							94	99	98					3																	100447675		2203	4300	6503	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447675G>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.388G>T	3.37:g.100447675G>T	ENSP00000240851:p.Gly130*					TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	728	+			130					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.388G>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505062	0.85282	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.14	5.14	0.70334	.	0.047579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7445	18.9749	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000240851:G130X	G	+	1	0	TFG	101930365	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.133000	0.94460	2.527000	0.85204	0.655000	0.94253	GGA		0.373	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		83	384	1	0	1.07466e-44	1	1.31567e-44	83	384					T	100447675	G	T	100447675	4	4	79	1	0	0	0	0	0	1	0	0	15858	1001	35	3	398	3	TFG	3	100447675	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	100447675	97574755	4376	14693											
ABI3BP	25890	broad.mit.edu	37	chr3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacctcgtgtttggtttcaGattttctactgtggaaaatg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000284322.5	-	30	2810	c.2701C>A	c.(2701-2703)Ctg>Atg	p.L901M	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L1603M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	901	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4807-4809)Ctg>Atg		ABI family, member 3 (NESH) binding protein							156	141	146					3																	100484701		1864	4101	5965	SO:0001583	missense	25890					extracellular space		g.chr3:100484701G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2701C>A	3.37:g.100484701G>T	ENSP00000284322:p.Leu901Met					ABI3BP_ENST00000284322.5_Missense_Mutation_p.L901M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	p.L1603M			Q7Z7G0	TARSH_HUMAN			62	4916	-			901					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4807C>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514097	0.85389	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.92649	3.33	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;0.999;1.0	D	0.95046	0.8182	10	0.87932	D	0	-11.0298	20.2963	0.98556	0.0:0.0:1.0:0.0	.	855;901;1603;610	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	M	1603;901;610;312;855	ENSP00000420524:L1603M;ENSP00000284322:L901M;ENSP00000373189:L855M	ENSP00000284322:L901M	L	-	1	2	ABI3BP	101967391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.813000	0.96785	0.655000	0.94253	CTG		0.368	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			16	53	1	0	1.15088e-07	1	1.19614e-07	16	53					T	100484701	G	T	100484701	3	4	79	1	0	0	0	0	1	0	0	0	91	933	33	3	550	3	ABI3BP	3	100484701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37026	100484701	97537729	4377	14694											
ABI3BP	25890	broad.mit.edu	37	chr3	100493516	100493516	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctaaagtcagttatattTtctgagaatggaaaataatg	9	3	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000284322.5	-	28	2440	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ABI3BP_ENST00000471714.1_Splice_Site_p.E1479D|ABI3BP_ENST00000383691.4_Splice_Site_p.E731D	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	777					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTTATATTTTCTGAGAATG	0.333																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.e60-1		ABI family, member 3 (NESH) binding protein							53	48	49					3																	100493516		1809	4063	5872	SO:0001630	splice_region_variant	25890					extracellular space		g.chr3:100493516T>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2330-1A>C	3.37:g.100493516T>G						ABI3BP_ENST00000284322.5_Splice_Site_p.E777_splice|ABI3BP_ENST00000383691.4_Splice_Site_p.E731_splice	p.E1479_splice			Q7Z7G0	TARSH_HUMAN			60	4546	-			777					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Splice_Site	SNP	ENST00000284322.5	37	c.4435_splice	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.291|9.291	1.050645|1.050645	0.19827|0.19827	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591	T;T;T|.	0.23950|.	2.25;1.88;1.88|.	5.54|5.54	0.522|0.522	0.17053|0.17053	.|.	0.388069|.	0.29565|.	N|.	0.011793|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.02539|0.02539	-0.55|-0.55	0.23673|0.23673	N|N	0.997144|0.997144	B;B;B;B|.	0.15719|.	0.0;0.0;0.014;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.001|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.13108|.	T|.	0.6|.	.|.	4.9816|4.9816	0.14168|0.14168	0.6554:0.0:0.2149:0.1298|0.6554:0.0:0.2149:0.1298	.|.	731;777;1479;486|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	D|T	1479;777;486;188;731;189|833	ENSP00000420524:E1479D;ENSP00000284322:E777D;ENSP00000373189:E731D|.	ENSP00000284322:E777D|.	E|K	-|-	3|2	2|0	ABI3BP|ABI3BP	101976206|101976206	0.945000|0.945000	0.32115|0.32115	0.611000|0.611000	0.29010|0.29010	0.845000|0.845000	0.48019|0.48019	1.347000|1.347000	0.33975|0.33975	0.071000|0.071000	0.16664|0.16664	-0.710000|-0.710000	0.03640|0.03640	GAA|AAA		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Missense_Mutation	8	20	0	0	0	1	0	8	20					G	100493516	T	G	100493516	5	3	79	1	0	0	0	0	0	0	1	0	91	1855	64	4	928	4	ABI3BP	3	100493516	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8815	100493516	97528914	4378	14695											
ABI3BP	25890	broad.mit.edu	37	chr3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagggattttaggtttcagaGaaataaattgtgttttaccg	11	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000284322.5	-	18	1656	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	ABI3BP_ENST00000471714.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	516	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGTTTCAGAGAAATAAATTG	0.333																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1693-1695)tCt>tAt		ABI family, member 3 (NESH) binding protein							58	55	56					3																	100565266		1799	4064	5863	SO:0001583	missense	25890					extracellular space		g.chr3:100565266G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1547C>A	3.37:g.100565266G>T	ENSP00000284322:p.Ser516Tyr					ABI3BP_ENST00000284322.5_Missense_Mutation_p.S516Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR	p.S565Y			Q7Z7G0	TARSH_HUMAN			20	1803	-			516			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1694C>A	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.82|14.82|14.82	2.650312|2.650312|2.650312	0.47362|0.47362|0.47362	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000495591;ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.|T;T;T	.|.|0.59224	.|.|0.28;0.28;0.28	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|.|.	.|.|0.864209	.|.|0.10324	.|.|N	.|.|0.688353	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P	.|.|0.58620	.|.|0.983;0.94	.|.|P;P	.|.|0.58873	.|.|0.847;0.548	T|T|T	0.49143|0.49143|0.49143	-0.8970|-0.8970|-0.8970	5|5|10	.|.|0.02654	.|.|T	.|.|1	-0.434|-0.434|-0.434	12.4487|12.4487|12.4487	0.55666|0.55666|0.55666	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|.|565;516	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	L|I|Y	3|3;33;194|565;516;565	.|.|ENSP00000420524:S565Y;ENSP00000284322:S516Y;ENSP00000433993:S565Y	.|.|ENSP00000284322:S516Y	F|L|S	-|-|-	3|1|2	2|0|0	ABI3BP|ABI3BP|ABI3BP	102047956|102047956|102047956	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	3.106000|3.106000|3.106000	0.50322|0.50322|0.50322	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CTC|TCT		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			4	34	1	0	0.217242	1	0.217458	4	34					T	100565266	G	T	100565266	3	4	79	1	0	0	0	0	1	0	0	0	91	942	33	3	1752	3	ABI3BP	3	100565266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71750	100565266	97457164	4379	14696											
ABI3BP	25890	broad.mit.edu	37	chr3	100569529	100569529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccttggctgttcaagAgttctagaagttttaggtgg	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000284322.5	-	14	1384	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	ABI3BP_ENST00000471714.1_Silent_p.T474T|ABI3BP_ENST00000495063.1_Silent_p.T474T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	425	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1420-1422)acT>acC		ABI family, member 3 (NESH) binding protein							130	127	128					3																	100569529		1807	4070	5877	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100569529A>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1275T>C	3.37:g.100569529A>G						ABI3BP_ENST00000284322.5_Silent_p.T425T|ABI3BP_ENST00000495063.1_Silent_p.T474T	p.T474T			Q7Z7G0	TARSH_HUMAN			16	1531	-			427			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.1422T>C	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.425|9.425	1.084092|1.084092	0.20309|0.20309	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682	.|.	.|.	.|.	5.87|5.87	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.60314|0.60314	0.2259|0.2259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57505|0.57505	-0.7800|-0.7800	4|4	.|.	.|.	.|.	-11.1312|-11.1312	10.663|10.663	0.45712|0.45712	0.7473:0.0:0.0:0.2526|0.7473:0.0:0.0:0.2526	.|.	.|.	.|.	.|.	P|P	103|51	.|.	.|.	L|S	-|-	2|1	0|0	ABI3BP|ABI3BP	102052219|102052219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.996000|2.996000	0.49449|0.49449	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.353	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			53	267	0	0	0	1	0	53	267					G	100569529	A	G	100569529	2	3	79	1	0	0	0	0	0	0	0	1	91	291	11	4		4	ABI3BP	3	100569529	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4263	100569529	97452901	4380	14697											
ABI3BP	25890	broad.mit.edu	37	chr3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgcaagaacttcaagaGgatggagtcacttgtggtat	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000284322.5	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	51					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(151-153)Ctc>Ttc		ABI family, member 3 (NESH) binding protein							208	203	205					3																	100645275		1986	4155	6141	SO:0001583	missense	25890					extracellular space		g.chr3:100645275G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.151C>T	3.37:g.100645275G>A	ENSP00000284322:p.Leu51Phe					ABI3BP_ENST00000284322.5_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F	p.L51F			Q7Z7G0	TARSH_HUMAN			2	260	-			51					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.151C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250444	0.22880	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.24538	2.05;1.85	5.55	-1.72	0.08107	.	0.439683	0.23856	N	0.043881	T	0.12178	0.0296	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.11329	0.006;0.002;0.004	T	0.11494	-1.0585	10	0.35671	T	0.21	-0.1114	8.3435	0.32258	0.5828:0.1163:0.3009:0.0	.	44;51;51	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	51	ENSP00000420524:L51F;ENSP00000284322:L51F	ENSP00000284322:L51F	L	-	1	0	ABI3BP	102127965	0.991000	0.36638	0.840000	0.33206	0.930000	0.56654	0.214000	0.17541	-0.757000	0.04697	-0.808000	0.03180	CTC		0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			43	196	0	0	0	1	0	43	196					A	100645275	G	A	100645275	3	1	79	1	0	0	0	0	1	0	0	0	91	1000	35	2	3212	2	ABI3BP	3	100645275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75746	100645275	97377155	4381	14698											
IMPG2	50939	broad.mit.edu	37	chr3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatatcaaactcaccatTgataagctgcagggaatcag	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	384					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)			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)	AACTCACCATTGATAAGCTGC	0.373																																						ENST00000193391.7																			0				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						c.(1150-1152)Aat>Gat		interphotoreceptor matrix proteoglycan 2							120	125	123					3																	100976376		2203	4299	6502	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100976376T>C	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.1150A>G	3.37:g.100976376T>C	ENSP00000193391:p.Asn384Asp						p.N384D	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			10	1337	-			384					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1150A>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509095	0.64410	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.51	3.14	0.36123	.	0.396828	0.25984	N	0.027048	T	0.19167	0.0460	L	0.32530	0.975	0.28038	N	0.933874	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.4698	0.44629	0.0:0.089:0.0:0.911	.	384;384	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	384	ENSP00000193391:N384D	ENSP00000193391:N384D	N	-	1	0	IMPG2	102459066	1.000000	0.71417	0.931000	0.37212	0.975000	0.68041	2.900000	0.48687	0.397000	0.25310	0.379000	0.24179	AAT		0.373	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			127	596	0	0	0	1	0	127	596					C	100976376	T	C	100976376	3	2	79	1	0	0	0	0	1	0	0	0	7759	1812	63	4	2615	4	IMPG2	3	100976376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331101	100976376	97046054	4382	14699											
SENP7	57337	broad.mit.edu	37	chr3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtcattacttactctcGtaaattctgaactgtgtttt	5	7	3	1	rs374261191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	954	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R888*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTACTCTCGTAAATTCTGA	0.318																																						ENST00000394095.2																			2	Substitution - Nonsense(2)	p.R888*(2)	large_intestine(1)|breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2860-2862)Cga>Tga		SUMO1/sentrin specific peptidase 7		G	stop/ARG,stop/ARG	0,4406		0,0,2203	84	96	92		2665,2860	4.5	1	3		92	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained,stop-gained	SENP7	NM_001077203.1,NM_020654.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	889/986,954/1051	101047326	1,13001	2203	4298	6501	SO:0001587	stop_gained	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047326G>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2860C>T	3.37:g.101047326G>A	ENSP00000377655:p.Arg954*					SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*	p.R954*	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			22	2913	-			954			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	37	c.2860C>T	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.580735	0.98371	0.0	1.16E-4	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8682	0.57951	0.0:0.0:0.752:0.248	.	.	.	.	X	954;889;888;790;790;142;921	.	ENSP00000313624:R888X	R	-	1	2	SENP7	102530016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.086000	0.30853	2.543000	0.85770	0.591000	0.81541	CGA		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		79	354	0	0	0	1	0	79	354					A	101047326	G	A	101047326	4	1	79	1	0	0	0	0	0	1	0	0	14101	1153	40	1	304	1	SENP7	3	101047326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70950	101047326	96975104	4383	14700											
SENP7	57337	broad.mit.edu	37	chr3	101047522	101047522	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttggtactgacatattCgactcggtactctgaaataa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000348610.3_Silent_p.S888S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	921	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACATATTCGACTCGGTAC	0.274																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2761-2763)tcG>tcA		SUMO1/sentrin specific peptidase 7							69	69	69					3																	101047522		2203	4293	6496	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047522C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2763G>A	3.37:g.101047522C>T						SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000348610.3_Silent_p.S888S|SENP7_ENST00000394091.1_Silent_p.S757S	p.S921S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			21	2816	-			921			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.2763G>A	CCDS2941.2																																																																																				0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		27	101	0	0	0	1	0	27	101					T	101047522	C	T	101047522	2	4	79	1	0	0	0	0	0	0	0	1	14101	871	31	1		1	SENP7	3	101047522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	101047522	96974908	4384	14701											
SENP7	57337	broad.mit.edu	37	chr3	101085608	101085608	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttgagtcatcttcttgTtttttctaaacataaacaca	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000348610.3_Silent_p.K295K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	328						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATCTTCTTGTTTTTTCTAAA	0.274																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(982-984)aaA>aaG		SUMO1/sentrin specific peptidase 7							66	65	66					3																	101085608		2203	4299	6502	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101085608T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.984A>G	3.37:g.101085608T>C						SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000348610.3_Silent_p.K295K|SENP7_ENST00000394091.1_Silent_p.K164K	p.K328K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			9	1037	-			328					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.984A>G	CCDS2941.2																																																																																				0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		21	212	0	0	0	1	0	21	212					C	101085608	T	C	101085608	2	2	79	1	0	0	0	0	0	0	0	1	14101	1722	60	4		4	SENP7	3	101085608	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38086	101085608	96936822	4385	14702											
SENP7	57337	broad.mit.edu	37	chr3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atattaaaagagaaatgccaTcatcctttcttcgtttttct	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	253						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAAATGCCATCATCCTTTCT	0.338																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(757-759)gAt>gCt		SUMO1/sentrin specific peptidase 7							110	105	106					3																	101090890		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090890T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.758A>C	3.37:g.101090890T>G	ENSP00000377655:p.Asp253Ala					SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A	p.D253A	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	811	-			253					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.758A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716243	0.15306	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20598	2.06;2.08;2.09;2.07;2.07;2.07	5.1	1.29	0.21616	.	0.413140	0.20689	N	0.087483	T	0.16685	0.0401	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.42296	0.775;0.4;0.4;0.068	B;B;B;B	0.39660	0.306;0.173;0.124;0.009	T	0.12268	-1.0554	10	0.27082	T	0.32	-3.139	4.088	0.09957	0.0:0.1866:0.1797:0.6336	.	89;187;220;253	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	253;188;187;89;89;220	ENSP00000377655:D253A;ENSP00000377654:D188A;ENSP00000313624:D187A;ENSP00000377651:D89A;ENSP00000350936:D89A;ENSP00000342159:D220A	ENSP00000313624:D187A	D	-	2	0	SENP7	102573580	0.005000	0.15991	0.035000	0.18076	0.016000	0.09150	-0.050000	0.11904	0.044000	0.15775	0.477000	0.44152	GAT		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		53	296	0	0	0	1	0	53	296					G	101090890	T	G	101090890	3	3	79	1	0	0	0	0	1	0	0	0	14101	1435	50	4	2466	4	SENP7	3	101090890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5282	101090890	96931540	4386	14703											
SENP7	57337	broad.mit.edu	37	chr3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaccttgttggcatcAcataaattagcatcgtttct	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	125						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTGGCATCACATAAATTAG	0.398																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(373-375)tgT>tgG		SUMO1/sentrin specific peptidase 7							187	181	183					3																	101136544		1908	4129	6037	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101136544A>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.375T>G	3.37:g.101136544A>C	ENSP00000377655:p.Cys125Trp					SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000394091.1_Intron	p.C125W	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			5	428	-			125					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.375T>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	17.67	3.445967	0.63178	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.49432	0.78;0.78;0.78	5.52	3.06	0.35304	.	0.305274	0.28871	N	0.013865	T	0.58206	0.2106	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.56001	-0.8051	10	0.66056	D	0.02	-1.7906	7.2869	0.26344	0.7807:0.1453:0.074:0.0	.	92;125	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	W	125;125;92	ENSP00000377655:C125W;ENSP00000377654:C125W;ENSP00000342159:C92W	ENSP00000342159:C92W	C	-	3	2	SENP7	102619234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.026000	0.57232	0.440000	0.26502	0.528000	0.53228	TGT		0.398	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		102	435	0	0	0	1	0	102	435					C	101136544	A	C	101136544	3	2	79	1	0	0	0	0	1	0	0	0	14101	157	6	4	2857	4	SENP7	3	101136544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45654	101136544	96885886	4387	14704											
RG9MTD1	54931	broad.mit.edu	37	chr3	101284213	101284213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgggctggaagggtgcCcaggccatgcagtttggaca	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101284213C>T	ENST00000309922.6	+	2	742	c.588C>T	c.(586-588)gcC>gcT	p.A196A		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	196	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GGAAGGGTGCCCAGGCCATGC	0.393																																						ENST00000309922.6																			0											c.(586-588)gcC>gcT		tRNA methyltransferase 10 homolog C (S. cerevisiae)							103	95	98					3																	101284213		1849	4094	5943	SO:0001819	synonymous_variant	54931							g.chr3:101284213C>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.588C>T	3.37:g.101284213C>T							p.A196A	NM_017819.2	NP_060289.2					2	742	+								Q9NRG5|Q9NX54|Q9Y596	Silent	SNP	ENST00000309922.6	37	c.588C>T	CCDS43122.1																																																																																				0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		22	542	0	0	0	1	0	22	542					T	101284213	C	T	101284213	2	4	79	1	0	0	0	0	0	0	0	1	13321	610	22	2		2	RG9MTD1	3	101284213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147669	101284213	96738217	4388	14705											
ZBTB11	27107	broad.mit.edu	37	chr3	101373562	101373562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttactgagtacaatgataGcctcgaacctcaggctttgg	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2293-2295)ggC>ggA		zinc finger and BTB domain containing 11							122	123	122					3																	101373562		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101373562G>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2295C>A	3.37:g.101373562G>T							p.G765G	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			8	2875	-			765					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.2295C>A	CCDS2943.1																																																																																				0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		82	422	1	0	1.06222e-33	1	1.26008e-33	82	422					T	101373562	G	T	101373562	2	4	79	1	0	0	0	0	0	0	0	1	17577	958	34	3		3	ZBTB11	3	101373562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89349	101373562	96648868	4389	14706											
ZBTB11	27107	broad.mit.edu	37	chr3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgacttgggaacggCtttccgtttctgcagctttt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1597-1599)Gcc>Acc		zinc finger and BTB domain containing 11							154	150	152					3																	101383834		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383834C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1597G>A	3.37:g.101383834C>T	ENSP00000326200:p.Ala533Thr						p.A533T	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2177	-			533					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1597G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965285	0.34659	.	.	ENSG00000066422	ENST00000312938	T	0.11385	2.78	5.87	5.0	0.66597	.	0.316831	0.38663	N	0.001614	T	0.05914	0.0154	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.30078	T	0.28	-2.5424	7.5694	0.27898	0.0:0.7063:0.1389:0.1548	.	533	O95625	ZBT11_HUMAN	T	533	ENSP00000326200:A533T	ENSP00000326200:A533T	A	-	1	0	ZBTB11	102866524	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.273000	0.33121	1.496000	0.48567	0.655000	0.94253	GCC		0.408	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		136	550	0	0	0	1	0	136	550					T	101383834	C	T	101383834	3	4	79	1	0	0	0	0	1	0	0	0	17577	797	28	2	1596	2	ZBTB11	3	101383834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10272	101383834	96638596	4390	14707											
CEP97	79598	broad.mit.edu	37	chr3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggatgataaccacaGtcttacattttttcctgagt	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1498-1500)aGt>aAt		centrosomal protein 97kDa							112	118	116					3																	101476949		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476949G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1499G>A	3.37:g.101476949G>A	ENSP00000342510:p.Ser500Asn					CEP97_ENST00000494050.1_Missense_Mutation_p.S441N|CEP97_ENST00000327230.4_Missense_Mutation_p.S500N	p.S500N			Q8IW35	CEP97_HUMAN			9	2251	+			500			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1499G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	CEP97	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		19	569	0	0	0	1	0	19	569					A	101476949	G	A	101476949	3	1	79	1	0	0	0	0	1	0	0	0	3272	1029	36	2	1533	2	CEP97	3	101476949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93115	101476949	96545481	4391	14708											
CEP97	79598	broad.mit.edu	37	chr3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaacgtattaaaaaaTttgtacaagaagaagctttc	7	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333																																						ENST00000341893.3																			1	Substitution - Missense(1)	p.F619I(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1855-1857)Ttt>Att		centrosomal protein 97kDa							75	79	77					3																	101481366		2203	4297	6500	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101481366T>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1855T>A	3.37:g.101481366T>A	ENSP00000342510:p.Phe619Ile					CEP97_ENST00000494050.1_Missense_Mutation_p.F560I|CEP97_ENST00000327230.4_Missense_Mutation_p.F619I	p.F619I			Q8IW35	CEP97_HUMAN			10	2607	+			619			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1855T>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	CEP97	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT		0.333	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		81	275	0	0	0	1	0	81	275					A	101481366	T	A	101481366	3	1	79	1	0	0	0	0	1	0	0	0	3272	1493	52	5	1893	5	CEP97	3	101481366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4417	101481366	96541064	4392	14709											
FAM55C	91775	broad.mit.edu	37	chr3	101520807	101520807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaaaggtctcctaacCgctgcagagagtgctttctt	9	11	2	2	rs201844634		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101520807C>T	ENST00000491511.2	+	5	1778	c.822C>T	c.(820-822)acC>acT	p.T274T	NXPE3_ENST00000273347.5_Silent_p.T274T|NXPE3_ENST00000422132.1_Silent_p.T274T|NXPE3_ENST00000477909.1_Silent_p.T274T	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	274						extracellular region (GO:0005576)											GTCTCCTAACCGCTGCAGAGA	0.468																																						ENST00000422132.1																			0											c.(820-822)acC>acT		neurexophilin and PC-esterase domain family, member 3							90	96	94					3																	101520807		2198	4298	6496	SO:0001819	synonymous_variant	91775							g.chr3:101520807C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.822C>T	3.37:g.101520807C>T						NXPE3_ENST00000273347.5_Silent_p.T274T|NXPE3_ENST00000477909.1_Silent_p.T274T|NXPE3_ENST00000491511.1_Silent_p.T274T	p.T274T							2	1019	+								A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.822C>T	CCDS2945.1																																																																																				0.468	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		110	509	0	0	0	1	0	110	509					T	101520807	C	T	101520807	2	4	79	1	0	0	0	0	0	0	0	1	5611	639	23	1		1	FAM55C	3	101520807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39441	101520807	96501623	4393	14710											
FAM55C	91775	broad.mit.edu	37	chr3	101535756	101535756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatgaccctgacaacaTtacagagtgcttacaaagaa	7	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101535756T>G	ENST00000491511.2	+	7	1996	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	NXPE3_ENST00000273347.5_Missense_Mutation_p.I347S|NXPE3_ENST00000422132.1_Missense_Mutation_p.I347S|NXPE3_ENST00000477909.1_Missense_Mutation_p.I347S	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	347						extracellular region (GO:0005576)											CCTGACAACATTACAGAGTGC	0.398																																						ENST00000422132.1																			0											c.(1039-1041)aTt>aGt		neurexophilin and PC-esterase domain family, member 3							180	175	176					3																	101535756		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101535756T>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1040T>G	3.37:g.101535756T>G	ENSP00000417485:p.Ile347Ser					NXPE3_ENST00000273347.5_Missense_Mutation_p.I347S|NXPE3_ENST00000477909.1_Missense_Mutation_p.I347S|NXPE3_ENST00000491511.1_Missense_Mutation_p.I347S	p.I347S							4	1237	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1040T>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828500	0.90955	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.86	5.86	0.93980	.	0.252557	0.45126	D	0.000400	T	0.31575	0.0801	M	0.85462	2.755	0.80722	D	1	P	0.47253	0.892	P	0.47941	0.562	T	0.16364	-1.0405	10	0.72032	D	0.01	-14.4097	16.5602	0.84551	0.0:0.0:0.0:1.0	.	347	Q969Y0	FA55C_HUMAN	S	347	ENSP00000273347:I347S;ENSP00000417485:I347S;ENSP00000418369:I347S;ENSP00000396421:I347S	ENSP00000273347:I347S	I	+	2	0	FAM55C	103018446	0.945000	0.32115	0.997000	0.53966	0.975000	0.68041	6.164000	0.71885	2.367000	0.80283	0.528000	0.53228	ATT		0.398	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		164	656	0	0	0	1	0	164	656					G	101535756	T	G	101535756	3	3	79	1	0	0	0	0	1	0	0	0	5611	1493	52	4	1054	4	FAM55C	3	101535756	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14949	101535756	96486674	4394	14711											
NFKBIZ	64332	broad.mit.edu	37	chr3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcaggcagcagagagGcccctttcaaggtgttcggg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	109					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(325-327)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							100	104	103					3																	101570965		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101570965G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.326G>A	3.37:g.101570965G>A	ENSP00000325663:p.Gly109Asp					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D	p.G109D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			2	441	+			109					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.326G>A	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066465	0.76187	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;D;T	0.83163	-1.34;-1.39;-1.69;-1.39	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87581	0.6213	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.88539	0.3108	10	0.66056	D	0.02	-22.1952	19.0279	0.92941	0.0:0.0:1.0:0.0	.	109;109	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	D	109;9;9;109;109;9	ENSP00000419800:G9D;ENSP00000377618:G9D;ENSP00000325593:G109D;ENSP00000325663:G109D	ENSP00000325593:G109D	G	+	2	0	NFKBIZ	103053655	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.314000	0.78988	2.584000	0.87258	0.563000	0.77884	GGC		0.433	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		130	503	0	0	0	1	0	130	503					A	101570965	G	A	101570965	3	1	79	1	0	0	0	0	1	0	0	0	10425	1203	42	2	332	2	NFKBIZ	3	101570965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35209	101570965	96451465	4395	14712											
CBLB	868	broad.mit.edu	37	chr3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttgggattttggcacagtCttacctaaaaacaaagataa	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	58	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				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)			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						TTGGCACAGTCTTACCTAAAA	0.274			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				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						c.(172-174)aGa>aAa		Cbl proto-oncogene B, E3 ubiquitin protein ligase							44	42	43					3																	105572504		2201	4297	6498	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.chr3:105572504C>T	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.173G>A	3.37:g.105572504C>T	ENSP00000264122:p.Arg58Lys					CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K	p.R58K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			3	494	-			58			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.173G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432187	0.43122	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.83	5.83	0.93111	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	N	0.04355	-0.22	0.80722	D	1	P;P;B	0.49696	0.927;0.911;0.044	D;D;B	0.67725	0.953;0.921;0.161	T	0.81371	-0.0963	10	0.87932	D	0	-20.2561	20.126	0.97982	0.0:1.0:0.0:0.0	.	80;58;58	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	58;80;58;58;80;80;58;58	ENSP00000264122:R58K;ENSP00000377595:R80K;ENSP00000384816:R58K;ENSP00000384938:R58K;ENSP00000446116:R80K;ENSP00000409750:R80K;ENSP00000400949:R58K;ENSP00000393906:R58K	ENSP00000264122:R58K	R	-	2	0	CBLB	107055194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.272000	0.78516	2.749000	0.94314	0.655000	0.94253	AGA		0.274	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		44	168	0	0	0	1	0	44	168					T	105572504	C	T	105572504	3	4	79	1	0	0	0	0	1	0	0	0	2708	913	32	2	2843	2	CBLB	3	105572504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4001539	105572504	92449926	4396	14713											
IFT57	55081	broad.mit.edu	37	chr3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactcagctgggcttgaGctgcacgatattcttgaacc	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368																																						ENST00000264538.3																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(961-963)gCt>gTt		intraflagellar transport 57 homolog (Chlamydomonas)							129	122	125					3																	107885720		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885720G>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.962C>T	3.37:g.107885720G>A	ENSP00000264538:p.Ala321Val					IFT57_ENST00000468021.1_5'UTR	p.A321V	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1209	-			321					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.962C>T	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185475	0.09495	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.48	4.59	0.56863	.	0.152367	0.64402	D	0.000019	T	0.42108	0.1188	N	0.25426	0.745	0.50171	D	0.999854	B	0.15930	0.015	B	0.18561	0.022	T	0.24835	-1.0149	9	0.30854	T	0.27	.	10.3105	0.43706	0.1468:0.0:0.8532:0.0	.	321	Q9NWB7	IFT57_HUMAN	V	321	.	ENSP00000264538:A321V	A	-	2	0	IFT57	109368410	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	4.848000	0.62874	2.735000	0.93741	0.650000	0.86243	GCT		0.368	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		45	183	0	0	0	1	0	45	183					A	107885720	G	A	107885720	3	1	79	1	0	0	0	0	1	0	0	0	7592	971	34	2	343	2	IFT57	3	107885720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2313216	107885720	90136710	4397	14714											
MYH15	22989	broad.mit.edu	37	chr3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaggtccggtgcagctcaGccttgacctcttgttcttcc	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4099-4101)gCt>gAt		myosin, heavy chain 15							156	151	153					3																	108133184		2071	4208	6279	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108133184G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4100C>A	3.37:g.108133184G>T	ENSP00000273353:p.Ala1367Asp						p.A1367D	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			31	4156	-			1367						Missense_Mutation	SNP	ENST00000273353.3	37	c.4100C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT		0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		33	240	1	0	9.78306e-22	1	1.1038e-21	33	240					T	108133184	G	T	108133184	3	4	79	1	0	0	0	0	1	0	0	0	10075	971	34	3	1788	3	MYH15	3	108133184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247464	108133184	89889246	4398	14715											
MYH15	22989	broad.mit.edu	37	chr3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccactcctgcataatGgacaagttcaaaatgagctt	6	11	2	1	rs202208116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1777-1779)Cat>Tat		myosin, heavy chain 15							157	153	154					3																	108183499		1863	4101	5964	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108183499G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1777C>T	3.37:g.108183499G>A	ENSP00000273353:p.His593Tyr						p.H593Y	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			16	1833	-			593			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1777C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829857	0.71258	.	.	ENSG00000144821	ENST00000273353	D	0.97066	-4.23	5.53	4.66	0.58398	Myosin head, motor domain (2);	.	.	.	.	D	0.99354	0.9773	H	0.99981	5.2	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.97639	1.0147	9	0.87932	D	0	.	14.1231	0.65203	0.0722:0.0:0.9278:0.0	.	593	Q9Y2K3	MYH15_HUMAN	Y	593	ENSP00000273353:H593Y	ENSP00000273353:H593Y	H	-	1	0	MYH15	109666189	1.000000	0.71417	0.326000	0.25389	0.809000	0.45718	7.441000	0.80485	1.344000	0.45657	0.655000	0.94253	CAT		0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		145	646	0	0	0	1	0	145	646					A	108183499	G	A	108183499	3	1	79	1	0	0	0	0	1	0	0	0	10075	1348	47	2	4171	2	MYH15	3	108183499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50315	108183499	89838931	4399	14716											
MYH15	22989	broad.mit.edu	37	chr3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaacgagaggagttgTcatttctcagggttttagca	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	252	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(754-756)gAc>gGc		myosin, heavy chain 15							128	115	119					3																	108214643		1862	4090	5952	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108214643T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.755A>G	3.37:g.108214643T>C	ENSP00000273353:p.Asp252Gly						p.D252G	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			8	811	-			252			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.755A>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408928	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	5.03	5.03	0.67393	Myosin head, motor domain (3);	.	.	.	.	D	0.97090	0.9049	H	0.99368	4.535	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.98720	1.0708	9	0.87932	D	0	.	14.7471	0.69496	0.0:0.0:0.0:1.0	.	252	Q9Y2K3	MYH15_HUMAN	G	252	ENSP00000273353:D252G	ENSP00000273353:D252G	D	-	2	0	MYH15	109697333	1.000000	0.71417	0.717000	0.30585	0.983000	0.72400	3.912000	0.56386	2.027000	0.59764	0.533000	0.62120	GAC		0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		17	102	0	0	0	1	0	17	102					C	108214643	T	C	108214643	3	2	79	1	0	0	0	0	1	0	0	0	10075	1667	58	4	5225	4	MYH15	3	108214643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31144	108214643	89807787	4400	14717											
MYH15	22989	broad.mit.edu	37	chr3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttccaagatagtattcGcttgcatgatttgatcttct	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	236	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(706-708)gCg>gTg		myosin, heavy chain 15							115	102	106					3																	108214691		1861	4095	5956	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108214691G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.707C>T	3.37:g.108214691G>A	ENSP00000273353:p.Ala236Val						p.A236V	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			8	763	-			236			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.707C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093275	0.20471	.	.	ENSG00000144821	ENST00000273353	T	0.73047	-0.71	4.84	-1.61	0.08399	Myosin head, motor domain (2);	.	.	.	.	T	0.66557	0.2801	M	0.74881	2.28	0.28598	N	0.909315	B	0.27192	0.171	B	0.24541	0.054	T	0.60747	-0.7202	9	0.52906	T	0.07	.	10.1362	0.42708	0.4652:0.0:0.5348:0.0	.	236	Q9Y2K3	MYH15_HUMAN	V	236	ENSP00000273353:A236V	ENSP00000273353:A236V	A	-	2	0	MYH15	109697381	0.649000	0.27322	0.002000	0.10522	0.060000	0.15804	2.968000	0.49224	-0.219000	0.10003	-1.099000	0.02127	GCG		0.383	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		24	70	0	0	0	1	0	24	70					A	108214691	G	A	108214691	3	1	79	1	0	0	0	0	1	0	0	0	10075	1087	38	1	5273	1	MYH15	3	108214691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	108214691	89807739	4401	14718											
KIAA1524	57650	broad.mit.edu	37	chr3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggagcaaggacttcaaGcaggcagtggagtccattgc	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	KIAA1524_ENST00000487834.1_5'UTR|DZIP3_ENST00000361582.3_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	6					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGACTTCAAGCAGGCAGTGG	0.602																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(16-18)tgC>tgA		KIAA1524							44	37	40					3																	108308205		2203	4300	6503	SO:0001587	stop_gained	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108308205G>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.18C>A	3.37:g.108308205G>T	ENSP00000295746:p.Cys6*					KIAA1524_ENST00000487834.1_5'UTR	p.C6*	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			1	94	-			6					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Nonsense_Mutation	SNP	ENST00000295746.8	37	c.18C>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202310	0.79127	.	.	ENSG00000163507	ENST00000295746	.	.	.	5.14	3.34	0.38264	.	0.161155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8924	9.5041	0.39035	0.2272:0.0:0.7728:0.0	.	.	.	.	X	6	.	ENSP00000295746:C6X	C	-	3	2	KIAA1524	109790895	0.956000	0.32656	1.000000	0.80357	0.359000	0.29487	0.586000	0.23894	1.531000	0.49152	0.655000	0.94253	TGC		0.602	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		27	92	1	0	4.87955e-14	1	5.28594e-14	27	92					T	108308205	G	T	108308205	4	4	79	1	0	0	0	0	0	1	0	0	8269	963	34	3	2783	3	KIAA1524	3	108308205	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93514	108308205	89714225	4402	14719											
DZIP3	9666	broad.mit.edu	37	chr3	108335411	108335411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagttgcagctaacagccaGaatggtgaggaaattgttcc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	94					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(280-282)caG>caA		DAZ interacting zinc finger protein 3							176	171	173					3																	108335411		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108335411G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.282G>A	3.37:g.108335411G>A						DZIP3_ENST00000463306.1_Silent_p.Q94Q	p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			5	512	+			94					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.282G>A	CCDS2952.1																																																																																				0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		75	349	0	0	0	1	0	75	349					A	108335411	G	A	108335411	2	1	79	1	0	0	0	0	0	0	0	1	4881	933	33	2		2	DZIP3	3	108335411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27206	108335411	89687019	4403	14720											
DZIP3	9666	broad.mit.edu	37	chr3	108363438	108363438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaatggtctcactgaGtcacagttcaattcaatttg	8	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	ENST00000361582.3	+	14	1799	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_ENST00000463306.1_Silent_p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	523					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCTCACTGAGTCACAGTTCA	0.408																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1567-1569)gaG>gaA		DAZ interacting zinc finger protein 3							125	127	126					3																	108363438		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363438G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1569G>A	3.37:g.108363438G>A						DZIP3_ENST00000463306.1_Silent_p.E523E	p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1799	+			523					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.1569G>A	CCDS2952.1																																																																																				0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		16	469	0	0	0	1	0	16	469					A	108363438	G	A	108363438	2	1	79	1	0	0	0	0	0	0	0	1	4881	1020	36	2		2	DZIP3	3	108363438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28027	108363438	89658992	4404	14721											
DZIP3	9666	broad.mit.edu	37	chr3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatacagtttgcagaAattaataaagatgggacctc	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	632					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1894-1896)gaA>gaC		DAZ interacting zinc finger protein 3							103	110	108					3																	108366893		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108366893A>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1896A>C	3.37:g.108366893A>C	ENSP00000355028:p.Glu632Asp					DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			16	2126	+			632					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1896A>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380981	0.61845	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33216	1.42;1.42;1.42	5.09	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.42787	0.1218	L	0.47716	1.5	0.29496	N	0.855292	D;D;D	0.67145	0.984;0.996;0.993	D;D;D	0.75484	0.956;0.986;0.967	T	0.27806	-1.0063	10	0.36615	T	0.2	-17.6589	7.8465	0.29428	0.9054:0.0:0.0946:0.0	.	250;632;632	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	632	ENSP00000355028:E632D;ENSP00000418115:E632D;ENSP00000419981:E632D	ENSP00000355028:E632D	E	+	3	2	DZIP3	109849583	0.999000	0.42202	1.000000	0.80357	0.721000	0.41392	0.708000	0.25719	0.919000	0.36945	0.524000	0.50904	GAA		0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		95	412	0	0	0	1	0	95	412					C	108366893	A	C	108366893	3	2	79	1	0	0	0	0	1	0	0	0	4881	11	1	4	1954	4	DZIP3	3	108366893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	108366893	89655537	4405	14722											
DZIP3	9666	broad.mit.edu	37	chr3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatcaacaagttgcttttgGaatcaataaggtttccaagt	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	802					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G802E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333																																						ENST00000361582.3																			1	Substitution - Missense(1)	p.G802E(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2404-2406)gGa>gAa		DAZ interacting zinc finger protein 3							50	51	50					3																	108381086		2202	4300	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108381086G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2405G>A	3.37:g.108381086G>A	ENSP00000355028:p.Gly802Glu					DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			21	2635	+			802					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2405G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659901	0.67586	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83419	-1.72;-1.72	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000085	D	0.86760	0.6010	L	0.47716	1.5	0.40099	D	0.976346	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83365	0.0004	10	0.20519	T	0.43	-18.2322	13.8682	0.63600	0.0:0.0:1.0:0.0	.	420;802	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	802	ENSP00000355028:G802E;ENSP00000419981:G802E	ENSP00000355028:G802E	G	+	2	0	DZIP3	109863776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.644000	0.89710	0.563000	0.77884	GGA		0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		16	108	0	0	0	1	0	16	108					A	108381086	G	A	108381086	3	1	79	1	0	0	0	0	1	0	0	0	4881	1174	41	2	2483	2	DZIP3	3	108381086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14193	108381086	89641344	4406	14723											
RETNLB	84666	broad.mit.edu	37	chr3	108474713	108474713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgaacatcccacgaaCcacagccatagccacaagca	6	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474713C>T	ENST00000295755.6	-	3	446	c.248G>A	c.(247-249)gGt>gAt	p.G83D	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	83					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCCCACGAACCACAGCCATA	0.577																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(247-249)gGt>gAt		resistin like beta							86	80	82					3																	108474713		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474713C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.248G>A	3.37:g.108474713C>T	ENSP00000295755:p.Gly83Asp					RETNLB_ENST00000482939.1_Intron	p.G83D	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			3	446	-			83					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.248G>A	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177731	0.57692	.	.	ENSG00000163515	ENST00000295755	T	0.69561	-0.41	4.14	4.14	0.48551	.	0.000000	0.47455	D	0.000233	T	0.80470	0.4629	M	0.76170	2.325	0.41702	D	0.989409	D	0.89917	1.0	D	0.97110	1.0	D	0.83644	0.0152	10	0.87932	D	0	-12.9978	13.9194	0.63921	0.0:1.0:0.0:0.0	.	83	Q9BQ08	RETNB_HUMAN	D	83	ENSP00000295755:G83D	ENSP00000295755:G83D	G	-	2	0	RETNLB	109957403	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	3.772000	0.55325	2.128000	0.65567	0.655000	0.94253	GGT		0.577	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			10	397	0	0	0	1	0	10	397					T	108474713	C	T	108474713	3	4	79	1	0	0	0	0	1	0	0	0	13287	507	18	2	91	2	RETNLB	3	108474713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93627	108474713	89547717	4407	14724											
RETNLB	84666	broad.mit.edu	37	chr3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccagtgacagccaTccctgcatgagcacatgaag	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(211-213)Atg>Gtg		resistin like beta							92	86	88					3																	108474750		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474750T>C	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.211A>G	3.37:g.108474750T>C	ENSP00000295755:p.Met71Val					RETNLB_ENST00000482939.1_Intron	p.M71V	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			3	409	-			71					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.211A>G	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710092	0.15239	.	.	ENSG00000163515	ENST00000295755	T	0.41758	0.99	3.7	0.923	0.19413	.	1.356200	0.05180	N	0.501095	T	0.37598	0.1009	L	0.43923	1.385	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.40156	-0.9578	10	0.52906	T	0.07	-1.0885	7.1581	0.25649	0.3937:0.0:0.0:0.6063	.	71	Q9BQ08	RETNB_HUMAN	V	71	ENSP00000295755:M71V	ENSP00000295755:M71V	M	-	1	0	RETNLB	109957440	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.404000	0.20999	0.475000	0.27415	0.459000	0.35465	ATG		0.547	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			13	331	0	0	0	1	0	13	331					C	108474750	T	C	108474750	3	2	79	1	0	0	0	0	1	0	0	0	13287	1435	50	4	128	4	RETNLB	3	108474750	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	108474750	89547680	4408	14725											
TRAT1	50852	broad.mit.edu	37	chr3	108572597	108572597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaactacatgcaatagatgCcagcgtttctaagaccacct	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108572597C>A	ENST00000295756.6	+	6	664	c.434C>A	c.(433-435)gCc>gAc	p.A145D	TRAT1_ENST00000426646.1_Missense_Mutation_p.A108D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	145					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GCAATAGATGCCAGCGTTTCT	0.448																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(433-435)gCc>gAc		T cell receptor associated transmembrane adaptor 1							100	92	95					3																	108572597		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572597C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.434C>A	3.37:g.108572597C>A	ENSP00000295756:p.Ala145Asp					TRAT1_ENST00000426646.1_Missense_Mutation_p.A108D	p.A145D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	664	+			145					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.434C>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485794	0.44147	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35789	1.29;1.46	5.09	2.31	0.28768	.	0.794703	0.11559	N	0.551876	T	0.36826	0.0981	L	0.44542	1.39	0.09310	N	1	P;P	0.52061	0.95;0.911	P;P	0.50082	0.63;0.63	T	0.14839	-1.0458	10	0.54805	T	0.06	-10.9248	6.4161	0.21717	0.0:0.6917:0.0:0.3083	.	108;145	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	D	145;108	ENSP00000295756:A145D;ENSP00000410097:A108D	ENSP00000295756:A145D	A	+	2	0	TRAT1	110055287	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.085000	0.14912	0.312000	0.23038	-0.136000	0.14681	GCC		0.448	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		7	330	1	0	2.0095e-06	1	2.07161e-06	7	330					A	108572597	C	A	108572597	3	1	79	1	0	0	0	0	1	0	0	0	16519	739	26	3	456	3	TRAT1	3	108572597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97847	108572597	89449833	4409	14726											
GUCA1C	9626	broad.mit.edu	37	chr3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaccatcattgtttatatCgatcttatggaacaccaagt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N|GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	143	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.D143Y(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418																																					NSCLC(157;1360 1999 30631 40189 44208)	ENST00000261047.3																			1	Substitution - Missense(1)	p.D143Y(1)	lung(1)	endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						c.(427-429)Gat>Aat		guanylate cyclase activator 1C							169	163	165					3																	108634989		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108634989C>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.427G>A	3.37:g.108634989C>T	ENSP00000261047:p.Asp143Asn					GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N|GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N	p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN			3	559	-			143			EF-hand 4.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.427G>A	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179294	0.57800	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	D;D;D	0.90955	-2.76;-2.76;-2.76	4.32	0.218	0.15270	EF-hand-like domain (1);	0.272597	0.40385	N	0.001114	D	0.95705	0.8603	H	0.97158	3.95	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.811	D	0.88836	0.3309	10	0.87932	D	0	.	5.8719	0.18809	0.0:0.5256:0.2963:0.1781	.	143;143	C9JNI2;O95843	.;GUC1C_HUMAN	N	143	ENSP00000377535:D143N;ENSP00000261047:D143N;ENSP00000417761:D143N	ENSP00000261047:D143N	D	-	1	0	GUCA1C	110117679	0.668000	0.27493	0.000000	0.03702	0.792000	0.44763	1.525000	0.35953	-0.203000	0.10251	0.651000	0.88453	GAT		0.418	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		86	404	0	0	0	1	0	86	404					T	108634989	C	T	108634989	3	4	79	1	0	0	0	0	1	0	0	0	6920	884	31	1	210	1	GUCA1C	3	108634989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62392	108634989	89387441	4410	14727											
MORC1	27136	broad.mit.edu	37	chr3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtagtacactcaccttTtccagctaggtaatgaagag	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000483760.1	-	22	2301	c.2258A>G	c.(2257-2259)aAa>aGa	p.K753R	MORC1_ENST00000232603.5_Missense_Mutation_p.K774R					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2320-2322)aAa>aGa		MORC family CW-type zinc finger 1							99	88	92					3																	108703566		2203	4298	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108703566T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2258A>G	3.37:g.108703566T>C	ENSP00000417282:p.Lys753Arg					MORC1_ENST00000483760.1_Missense_Mutation_p.K753R	p.K774R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			23	2403	-			774						Missense_Mutation	SNP	ENST00000483760.1	37	c.2321A>G		.	.	.	.	.	.	.	.	.	.	T	13.23	2.174800	0.38413	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07688	3.21;3.17	5.49	4.35	0.52113	.	2.220440	0.01806	N	0.033169	T	0.08582	0.0213	N	0.24115	0.695	0.21967	N	0.999446	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.46703	T	0.11	.	7.8604	0.29506	0.0:0.0906:0.0:0.9094	.	753;774	E7ERX1;Q86VD1	.;MORC1_HUMAN	R	774;753	ENSP00000232603:K774R;ENSP00000417282:K753R	ENSP00000232603:K774R	K	-	2	0	MORC1	110186256	0.922000	0.31269	0.817000	0.32601	0.753000	0.42808	1.323000	0.33701	1.116000	0.41820	0.533000	0.62120	AAA		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			43	143	0	0	0	1	0	43	143					C	108703566	T	C	108703566	3	2	79	1	0	0	0	0	1	0	0	0	9742	1841	64	4	657	4	MORC1	3	108703566	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68577	108703566	89318864	4411	14728											
MORC1	27136	broad.mit.edu	37	chr3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctacatcttccaaagctctCtgtaatacatcctggagaaa	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000483760.1	-	12	1021	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCAAAGCTCTCTGTAATACAT	0.353																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(976-978)caG>caT		MORC family CW-type zinc finger 1							137	120	126					3																	108778706		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778706C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.978G>T	3.37:g.108778706C>A	ENSP00000417282:p.Gln326His					MORC1_ENST00000483760.1_Missense_Mutation_p.Q326H	p.Q326H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			12	1060	-			326						Missense_Mutation	SNP	ENST00000483760.1	37	c.978G>T		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673784	0.29693	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	1.29	0.21616	.	0.730120	0.11841	N	0.524317	T	0.15132	0.0365	M	0.63428	1.95	0.27887	N	0.93948	D;D	0.67145	0.996;0.99	P;P	0.58820	0.846;0.827	T	0.10359	-1.0633	10	0.45353	T	0.12	0.2174	7.7351	0.28810	0.0:0.6924:0.0:0.3076	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	326	ENSP00000232603:Q326H;ENSP00000417282:Q326H	ENSP00000232603:Q326H	Q	-	3	2	MORC1	110261396	1.000000	0.71417	0.573000	0.28510	0.944000	0.59088	1.231000	0.32624	0.053000	0.16036	0.650000	0.86243	CAG		0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			28	194	1	0	4.02929e-09	1	4.23443e-09	28	194					A	108778706	C	A	108778706	3	1	79	1	0	0	0	0	1	0	0	0	9742	912	32	3	2044	3	MORC1	3	108778706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75140	108778706	89243724	4412	14729											
MORC1	27136	broad.mit.edu	37	chr3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaacacacaggtcatcGtttcttccttcttcgtaaaa	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000483760.1	-	6	411	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000232603.5_Missense_Mutation_p.T123M|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTCATCGTTTCTTCCTT	0.343																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(367-369)aCg>aTg		MORC family CW-type zinc finger 1							124	124	124					3																	108818260		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818260G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.368C>T	3.37:g.108818260G>A	ENSP00000417282:p.Thr123Met					MORC1_ENST00000483760.1_Missense_Mutation_p.T123M	p.T123M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			6	450	-			123						Missense_Mutation	SNP	ENST00000483760.1	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	G	16.58	3.161618	0.57368	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95001	-3.58;-3.58	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.96917	0.8993	M	0.78916	2.43	0.29482	N	0.856305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93587	0.6918	10	0.66056	D	0.02	-13.7836	15.6854	0.77405	0.0:0.0:1.0:0.0	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	123	ENSP00000232603:T123M;ENSP00000417282:T123M	ENSP00000232603:T123M	T	-	2	0	MORC1	110300950	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	4.018000	0.57174	2.643000	0.89663	0.555000	0.69702	ACG		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			41	190	0	0	0	1	0	41	190					A	108818260	G	A	108818260	3	1	79	1	0	0	0	0	1	0	0	0	9742	1145	40	1	2678	1	MORC1	3	108818260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39554	108818260	89204170	4413	14730											
DPPA2	151871	broad.mit.edu	37	chr3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggaacatgaattcaaagcCttaggctgaacagctcttgc	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463																																						ENST00000478945.1																			1	Substitution - coding silent(1)	p.K200K(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(598-600)aaG>aaT		developmental pluripotency associated 2							112	102	105					3																	109026937		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026937C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.600G>T	3.37:g.109026937C>A	ENSP00000417710:p.Lys200Asn						p.K200N	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	846	-			200					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.600G>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502876	0.44558	.	.	ENSG00000163530	ENST00000478945	T	0.58358	0.34	4.43	2.29	0.28610	.	0.205916	0.34460	N	0.003947	T	0.58278	0.2111	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.47586	-0.9106	10	0.66056	D	0.02	-10.1475	4.4885	0.11801	0.0:0.6333:0.2128:0.1539	.	200	Q7Z7J5	DPPA2_HUMAN	N	200	ENSP00000417710:K200N	ENSP00000417710:K200N	K	-	3	2	DPPA2	110509627	0.000000	0.05858	0.013000	0.15412	0.163000	0.22366	0.097000	0.15168	0.589000	0.29677	0.555000	0.69702	AAG		0.463	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		63	263	1	0	3.8688e-20	1	4.32843e-20	63	263					A	109026937	C	A	109026937	3	1	79	1	0	0	0	0	1	0	0	0	4750	680	24	3	308	3	DPPA2	3	109026937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208677	109026937	88995493	4414	14731											
PHLDB2	90102	broad.mit.edu	37	chr3	111603011	111603011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcattctgttgagaaCgattcccaaaacatgatgga	11	7	1	2	rs147548065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000412622.1_Silent_p.N29N|PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	29						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		19829	0.0		0.001	False		,,,				2504	0.0					ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(85-87)aaC>aaT		pleckstrin homology-like domain, family B, member 2							155	157	156					3																	111603011		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603011C>T		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.87C>T	3.37:g.111603011C>T						PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N	p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	498	+			29					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.87C>T	CCDS46886.1																																																																																				0.413	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		128	700	0	0	0	1	0	128	700					T	111603011	C	T	111603011	2	4	79	1	0	0	0	0	0	0	0	1	11894	535	19	1		1	PHLDB2	3	111603011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2576074	111603011	86419419	4415	14732											
PHLDB2	90102	broad.mit.edu	37	chr3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatgatggagagcctcaGcccaaagaaatactcttcca	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	39						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(115-117)aGc>aAc		pleckstrin homology-like domain, family B, member 2							140	142	141					3																	111603040		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603040G>A		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.116G>A	3.37:g.111603040G>A	ENSP00000405405:p.Ser39Asn					PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N	p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	527	+			39					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.116G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328165	0.10956	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.30182	1.54;1.54;1.56;1.56;1.54;1.56	5.87	4.06	0.47325	.	0.327773	0.38058	N	0.001831	T	0.14399	0.0348	N	0.11560	0.145	0.24589	N	0.99384	B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.004;0.001;0.001	T	0.20773	-1.0265	10	0.16420	T	0.52	.	8.4181	0.32683	0.2311:0.0:0.7689:0.0	.	39;39;39;39;66	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	66;66;39;39;39;39;39;39;39	ENSP00000377500:S66N;ENSP00000405405:S39N;ENSP00000405292:S39N;ENSP00000418296:S39N;ENSP00000377502:S39N;ENSP00000418319:S39N	ENSP00000352764:S66N	S	+	2	0	PHLDB2	113085730	0.998000	0.40836	0.999000	0.59377	0.724000	0.41520	1.185000	0.32065	1.631000	0.50456	0.655000	0.94253	AGC		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		126	660	0	0	0	1	0	126	660					A	111603040	G	A	111603040	3	1	79	1	0	0	0	0	1	0	0	0	11894	971	34	2	203	2	PHLDB2	3	111603040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	111603040	86419390	4416	14733											
PHLDB2	90102	broad.mit.edu	37	chr3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttctcctttgggaaCcagtgtcagaagcagcccct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	77						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(229-231)aCc>aTc		pleckstrin homology-like domain, family B, member 2							148	160	156					3																	111603154		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603154C>T		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.230C>T	3.37:g.111603154C>T	ENSP00000405405:p.Thr77Ile					PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I	p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	641	+			77					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.230C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261057	0.23051	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.42;1.39;1.39;1.42;1.39	5.87	4.08	0.47627	.	0.919733	0.09484	N	0.795949	T	0.34366	0.0895	N	0.22421	0.69	0.09310	N	1	B;B;P;B;P	0.49090	0.09;0.053;0.919;0.145;0.493	B;B;P;B;B	0.48704	0.069;0.032;0.587;0.146;0.146	T	0.17228	-1.0376	10	0.72032	D	0.01	.	9.8179	0.40865	0.0:0.7857:0.1395:0.0748	.	77;77;77;77;104	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	104;104;77;77;77;77;77;77;77	ENSP00000377500:T104I;ENSP00000405405:T77I;ENSP00000405292:T77I;ENSP00000418296:T77I;ENSP00000377502:T77I;ENSP00000418319:T77I	ENSP00000352764:T104I	T	+	2	0	PHLDB2	113085844	0.030000	0.19436	0.378000	0.26068	0.462000	0.32619	1.447000	0.35101	0.932000	0.37266	0.655000	0.94253	ACC		0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		174	884	0	0	0	1	0	174	884					T	111603154	C	T	111603154	3	4	79	1	0	0	0	0	1	0	0	0	11894	507	18	2	317	2	PHLDB2	3	111603154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	111603154	86419276	4417	14734											
PHLDB2	90102	broad.mit.edu	37	chr3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaagccaggaaaatgaGcattcaggacagcctggcgc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	212						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(634-636)aGc>aAc		pleckstrin homology-like domain, family B, member 2							61	62	62					3																	111603559		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603559G>A		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.635G>A	3.37:g.111603559G>A	ENSP00000405405:p.Ser212Asn					PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N	p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1046	+			212					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.635G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721857	0.03182	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.52;1.53;1.53;1.49;1.53;1.53	5.61	-1.59	0.08453	.	0.612468	0.19263	N	0.118609	T	0.04770	0.0129	N	0.00436	-1.5	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001	T	0.34104	-0.9842	10	0.06099	T	0.92	.	1.8583	0.03184	0.2687:0.158:0.417:0.1562	.	212;212;212;212;239	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	239;239;212;212;212;212;212;212;212	ENSP00000377500:S239N;ENSP00000405405:S212N;ENSP00000405292:S212N;ENSP00000418296:S212N;ENSP00000377502:S212N;ENSP00000418319:S212N	ENSP00000352764:S239N	S	+	2	0	PHLDB2	113086249	0.853000	0.29707	0.375000	0.26029	0.952000	0.60782	1.298000	0.33412	-0.076000	0.12775	-0.345000	0.07892	AGC		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		80	283	0	0	0	1	0	80	283					A	111603559	G	A	111603559	3	1	79	1	0	0	0	0	1	0	0	0	11894	971	34	2	722	2	PHLDB2	3	111603559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	111603559	86418871	4418	14735											
PHLDB2	90102	broad.mit.edu	37	chr3	111639200	111639200	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacttatgaaggagaaggaGattttggatcatctaaaccg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000431670.2	+	5	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_ENST00000412622.1_Silent_p.E645E|PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000495180.1_Silent_p.E231E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	645						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1933-1935)gaG>gaA		pleckstrin homology-like domain, family B, member 2							117	121	120					3																	111639200		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111639200G>A		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.1935G>A	3.37:g.111639200G>A						PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000495180.1_Silent_p.E231E|PHLDB2_ENST00000412622.1_Silent_p.E645E	p.E645E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			5	2346	+			645					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.1935G>A	CCDS46886.1																																																																																				0.353	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		62	335	0	0	0	1	0	62	335					A	111639200	G	A	111639200	2	1	79	1	0	0	0	0	0	0	0	1	11894	933	33	2		2	PHLDB2	3	111639200	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35641	111639200	86383230	4419	14736											
PHLDB2	90102	broad.mit.edu	37	chr3	111658331	111658331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccaaaggatgctgacCtgttggatgttgaaagcaaa	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658331C>T	ENST00000431670.2	+	7	2551	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	PHLDB2_ENST00000412622.1_Silent_p.L671L|PHLDB2_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000495180.1_Silent_p.L300L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	714						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGCTGACCTGTTGGATGT	0.403																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2140-2142)Ctg>Ttg		pleckstrin homology-like domain, family B, member 2							117	109	112					3																	111658331		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111658331C>T		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.2140C>T	3.37:g.111658331C>T						PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000495180.1_Silent_p.L300L|PHLDB2_ENST00000412622.1_Silent_p.L671L	p.L714L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			7	2551	+			714					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2140C>T	CCDS46886.1																																																																																				0.403	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		33	444	0	0	0	1	0	33	444					T	111658331	C	T	111658331	2	4	79	1	0	0	0	0	0	0	0	1	11894	680	24	2		2	PHLDB2	3	111658331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19131	111658331	86364099	4420	14737											
PHLDB2	90102	broad.mit.edu	37	chr3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaacactttgaagacCtggagttccagcagcttgaa	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000431670.2	+	7	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	725						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2173-2175)Ctg>Atg		pleckstrin homology-like domain, family B, member 2							124	118	120					3																	111658364		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111658364C>A		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.2173C>A	3.37:g.111658364C>A	ENSP00000405405:p.Leu725Met					PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M	p.L725M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			7	2584	+			725					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.2173C>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613049	0.66672	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60672	0.54;0.17;0.55;0.64;0.17;0.55;1.44	5.53	1.7	0.24286	.	0.000000	0.64402	D	0.000007	T	0.67720	0.2923	M	0.64567	1.98	0.43430	D	0.995596	D;D;D;D	0.76494	0.989;0.998;0.999;0.984	P;D;D;D	0.68039	0.78;0.95;0.955;0.926	T	0.65705	-0.6103	10	0.62326	D	0.03	.	9.5472	0.39288	0.0:0.7006:0.0:0.2994	.	311;725;682;709	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	M	709;709;725;682;682;725;682;311	ENSP00000377500:L709M;ENSP00000405405:L725M;ENSP00000405292:L682M;ENSP00000418296:L682M;ENSP00000377502:L725M;ENSP00000418319:L682M;ENSP00000420303:L311M	ENSP00000352764:L709M	L	+	1	2	PHLDB2	113141054	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.150000	0.31639	0.090000	0.17273	0.650000	0.86243	CTG		0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		84	377	1	0	5.01443e-46	1	6.15577e-46	84	377					A	111658364	C	A	111658364	3	1	79	1	0	0	0	0	1	0	0	0	11894	680	24	3	2280	3	PHLDB2	3	111658364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	111658364	86364066	4421	14738											
PHLDB2	90102	broad.mit.edu	37	chr3	111693325	111693325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacagaatctattataTggtagccccatcgccagaag	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111693325T>C	ENST00000431670.2	+	18	4088	c.3677T>C	c.(3676-3678)aTg>aCg	p.M1226T	PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCTATTATATGGTAGCCCCA	0.398																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3676-3678)aTg>aCg		pleckstrin homology-like domain, family B, member 2							105	108	107					3																	111693325		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111693325T>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.3677T>C	3.37:g.111693325T>C	ENSP00000405405:p.Met1226Thr					PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T	p.M1226T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			18	4088	+			1226			PH.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3677T>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534413	0.45073	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.036996	0.85682	D	0.000000	D	0.86900	0.6044	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.971;0.996;1.0;0.997	D;D;D;D;D	0.85130	0.985;0.926;0.965;0.997;0.991	D	0.88373	0.2996	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	338;717;1226;1183;1210	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	T	1210;1226;1183;1226;1183;717	ENSP00000377500:M1210T;ENSP00000405405:M1226T;ENSP00000405292:M1183T;ENSP00000377502:M1226T;ENSP00000418319:M1183T;ENSP00000420303:M717T	ENSP00000377500:M1210T	M	+	2	0	PHLDB2	113176015	1.000000	0.71417	0.990000	0.47175	0.016000	0.09150	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		0.398	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		10	461	0	0	0	1	0	10	461					C	111693325	T	C	111693325	3	2	79	1	0	0	0	0	1	0	0	0	11894	1464	51	4	3828	4	PHLDB2	3	111693325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34961	111693325	86329105	4422	14739											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782371	111782371	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgattttttgttgcccataGcctgccctgttggatctttt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCCCATAGCCTGCCCTGT	0.413																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e12-1		transmembrane protease, serine 7							217	199	205					3																	111782371		1898	4117	6015	SO:0001630	splice_region_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111782371G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1448-1G>T	3.37:g.111782371G>T						TMPRSS7_ENST00000419127.1_Splice_Site				Q7RTY8	TMPS7_HUMAN			12	1450	+								C9J8P7|E9PAS3|Q17RH4	Splice_Site	SNP	ENST00000452346.2	37			.	.	.	.	.	.	.	.	.	.	G	16.11	3.030445	0.54790	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6344	0.85042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS7	113265061	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	6.145000	0.71769	2.670000	0.90874	0.563000	0.77884	.		0.413	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	Intron	160	675	1	0	1.00085e-62	1	1.26187e-62	160	675					T	111782371	G	T	111782371	5	4	79	1	0	0	0	0	0	0	1	0	16304	985	34	3	1103	3	TMPRSS7	3	111782371	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89046	111782371	86240059	4423	14740											
SLC9A10	285335	broad.mit.edu	37	chr3	111887888	111887888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaatattagagagctttaGttgcatattgtagttccaat	7	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111887888G>T	ENST00000305815.5	-	25	3325	c.3073C>A	c.(3073-3075)Cta>Ata	p.L1025I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L977I	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1025					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GAGAGCTTTAGTTGCATATTG	0.274																																						ENST00000305815.5																			0											c.(3073-3075)Cta>Ata		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							72	79	77					3																	111887888		2201	4293	6494	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887888G>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3073C>A	3.37:g.111887888G>T	ENSP00000306627:p.Leu1025Ile					SLC9C1_ENST00000487372.1_Missense_Mutation_p.L977I	p.L1025I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			25	3325	-			1025					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3073C>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.170208	0.21621	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79845	-1.29;-1.31	6.06	2.17	0.27698	.	0.152620	0.31601	N	0.007364	T	0.82001	0.4942	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.968;0.999	P;D	0.78314	0.885;0.991	T	0.70219	-0.4932	10	0.56958	D	0.05	-2.0288	3.568	0.07907	0.6437:0.0:0.1974:0.1589	.	977;1025	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	I	1025;977	ENSP00000306627:L1025I;ENSP00000420688:L977I	ENSP00000306627:L1025I	L	-	1	2	SLC9A10	113370578	0.409000	0.25368	0.065000	0.19835	0.022000	0.10575	0.467000	0.22035	0.114000	0.18032	-0.355000	0.07637	CTA		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		39	211	1	0	1.04594e-18	1	1.16214e-18	39	211					T	111887888	G	T	111887888	3	4	79	1	0	0	0	0	1	0	0	0	14760	1020	36	3	480	3	SLC9A10	3	111887888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105517	111887888	86134542	4424	14741											
SLC9A10	285335	broad.mit.edu	37	chr3	111999618	111999618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaagtcttccaagtgcCggttcaaaaatgctgcaaaa	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111999618C>T	ENST00000305815.5	-	3	353	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34Q|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5																			0											c.(100-102)cGg>cAg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60	63	62					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>A	3.37:g.111999618C>T	ENSP00000306627:p.Arg34Gln					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34Q|SLC9C1_ENST00000467397.1_5'UTR	p.R34Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717899	0.15372	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77620	-1.11;-1.08	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.46833	0.1413	N	0.02011	-0.69	0.09310	N	1	B;B	0.21520	0.057;0.001	B;B	0.12837	0.008;0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	34	ENSP00000306627:R34Q;ENSP00000420688:R34Q	ENSP00000306627:R34Q	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		29	148	0	0	0	1	0	29	148					T	111999618	C	T	111999618	3	4	79	1	0	0	0	0	1	0	0	0	14760	652	23	1	3540	1	SLC9A10	3	111999618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111730	111999618	86022812	4425	14742											
SLC35A5	55032	broad.mit.edu	37	chr3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcacaacttggcaggaCgtggatttcatcacgatgcc	10	11	2	0	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	178					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.R178S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463																																						ENST00000492406.1																			1	Substitution - Missense(1)	p.R178S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						c.(532-534)Cgt>Tgt		solute carrier family 35, member A5		C	CYS/ARG	0,4406		0,0,2203	116	113	114		532	5.8	1	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35A5	NM_017945.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	178/425	112299496	1,13005	2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112299496C>T	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.532C>T	3.37:g.112299496C>T	ENSP00000417654:p.Arg178Cys					SLC35A5_ENST00000460713.1_3'UTR	p.R178C	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN			6	815	+			178					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.532C>T	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289704	0.59976	0.0	1.16E-4	ENSG00000138459	ENST00000492406	T	0.47177	0.85	5.76	5.76	0.90799	.	0.314260	0.39475	N	0.001341	T	0.33089	0.0851	N	0.08118	0	0.38054	D	0.935873	P	0.47762	0.9	B	0.43575	0.424	T	0.22034	-1.0228	9	.	.	.	-12.1866	18.1556	0.89689	0.0:1.0:0.0:0.0	.	178	Q9BS91	S35A5_HUMAN	C	178	ENSP00000417654:R178C	.	R	+	1	0	SLC35A5	113782186	0.997000	0.39634	1.000000	0.80357	0.539000	0.34962	3.555000	0.53727	2.724000	0.93272	0.585000	0.79938	CGT		0.463	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		68	351	0	0	0	1	0	68	351					T	112299496	C	T	112299496	3	4	79	1	0	0	0	0	1	0	0	0	14624	536	19	1	550	1	SLC35A5	3	112299496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	299878	112299496	85722934	4426	14743											
CCDC80	151887	broad.mit.edu	37	chr3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggcggctctgttgggCgagctagtctcaacacgggc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	87					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)			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						CTCTGTTGGGCGAGCTAGTCT	0.602																																						ENST00000206423.3																			0				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						c.(259-261)cGc>cAc		coiled-coil domain containing 80							72	68	70					3																	112358493		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358493C>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.260G>A	3.37:g.112358493C>T	ENSP00000206423:p.Arg87His					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H	p.R87H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1213	-			87					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.260G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755273	0.15846	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44881	0.91;0.91	5.35	-5.15	0.02866	.	1.257190	0.05262	N	0.515973	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12016	-1.0564	10	0.15499	T	0.54	-0.0491	1.9051	0.03275	0.1164:0.2021:0.2475:0.434	.	98;87;87	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	87	ENSP00000206423:R87H;ENSP00000411814:R87H	ENSP00000206423:R87H	R	-	2	0	CCDC80	113841183	0.000000	0.05858	0.000000	0.03702	0.603000	0.37013	-1.306000	0.02735	-1.383000	0.02106	0.650000	0.86243	CGC		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		57	562	0	0	0	1	0	57	562					T	112358493	C	T	112358493	3	4	79	1	0	0	0	0	1	0	0	0	2861	768	27	1	2620	1	CCDC80	3	112358493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58997	112358493	85663937	4427	14744											
C3orf17	25871	broad.mit.edu	37	chr3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagccctcacatcaaatTctgatgactcttctgtggag	8	10	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	309					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(925-927)gAa>gCa		chromosome 3 open reading frame 17							81	78	79					3																	112729539		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112729539T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.926A>C	3.37:g.112729539T>G	ENSP00000320251:p.Glu309Ala					C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR	p.E309A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			7	1117	-			309					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.926A>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	8.710	0.911758	0.17907	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.18174	2.49;2.49;2.23	5.87	0.443	0.16587	.	0.932998	0.09236	N	0.829848	T	0.12433	0.0302	L	0.60455	1.87	0.23657	N	0.997183	B;B;B;B	0.33171	0.004;0.017;0.228;0.4	B;B;B;B	0.30855	0.007;0.012;0.121;0.121	T	0.31971	-0.9924	10	0.16896	T	0.51	-9.1912	0.7962	0.01067	0.1596:0.2222:0.164:0.4543	.	198;106;239;309	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	309;239;173	ENSP00000320251:E309A;ENSP00000373173:E239A;ENSP00000377438:E173A	ENSP00000320251:E309A	E	-	2	0	C3orf17	114212229	0.998000	0.40836	0.997000	0.53966	0.915000	0.54546	0.216000	0.17585	0.463000	0.27118	0.533000	0.62120	GAA		0.363	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		40	184	0	0	0	1	0	40	184					G	112729539	T	G	112729539	3	3	79	1	0	0	0	0	1	0	0	0	2217	1783	62	4	789	4	C3orf17	3	112729539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371046	112729539	85292891	4428	14745											
C3orf17	25871	broad.mit.edu	37	chr3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccattctgttgtgatTgctgtaaaggactgcacata	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	72					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(214-216)Aat>Cat		chromosome 3 open reading frame 17							149	129	136					3																	112736342		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112736342T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.214A>C	3.37:g.112736342T>G	ENSP00000320251:p.Asn72His					C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H	p.N72H	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			2	405	-			72					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.214A>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585739	0.28268	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	T;T	0.47177	0.85;0.85	5.61	3.1	0.35709	.	0.359775	0.32287	N	0.006308	T	0.36193	0.0958	L	0.54323	1.7	0.80722	D	1	P;B	0.35174	0.488;0.197	B;B	0.35240	0.198;0.058	T	0.07347	-1.0777	10	0.15066	T	0.55	-15.9227	6.1807	0.20470	0.1489:0.0:0.353:0.4982	.	72;72	Q6NW34-2;Q6NW34	.;CC017_HUMAN	H	72	ENSP00000320251:N72H;ENSP00000373173:N72H	ENSP00000320251:N72H	N	-	1	0	C3orf17	114219032	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.705000	0.37867	0.946000	0.37632	0.533000	0.62120	AAT		0.468	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		83	326	0	0	0	1	0	83	326					G	112736342	T	G	112736342	3	3	79	1	0	0	0	0	1	0	0	0	2217	1812	63	4	1521	4	C3orf17	3	112736342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6803	112736342	85286088	4429	14746											
C3orf17	25871	broad.mit.edu	37	chr3	112736400	112736400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaggtttggctcttcagCgacagtatgacgagatggca	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Silent_p.S52S|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	52					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(154-156)tcG>tcA		chromosome 3 open reading frame 17							183	161	169					3																	112736400		2203	4300	6503	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112736400C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.156G>A	3.37:g.112736400C>T						C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Silent_p.S52S	p.S52S	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			2	347	-			52					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.156G>A	CCDS33824.1																																																																																				0.418	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		107	545	0	0	0	1	0	107	545					T	112736400	C	T	112736400	2	4	79	1	0	0	0	0	0	0	0	1	2217	755	27	1		1	C3orf17	3	112736400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	112736400	85286030	4430	14747											
BOC	91653	broad.mit.edu	37	chr3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggcaaccggcgctccccaGacccccaacgtcagtggggc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000355385.3_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	450					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCGCTCCCCAGACCCCCAACG	0.667																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1348-1350)aGa>aAa		BOC cell adhesion associated, oncogene regulated							37	38	38					3																	112993336		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993336G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1349G>A	3.37:g.112993336G>A	ENSP00000418663:p.Arg450Lys					BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R450K	p.R450K			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2053	+			450					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1349G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246972	0.05867	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.38;0.38	5.08	1.1	0.20463	.	0.391327	0.25747	N	0.028573	T	0.25938	0.0632	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.127	0.31005	0.519:0.0:0.481:0.0	.	450;450	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	450	ENSP00000418663:R450K;ENSP00000273395:R450K;ENSP00000347546:R450K	ENSP00000273395:R450K	R	+	2	0	BOC	114476026	0.914000	0.31030	0.000000	0.03702	0.014000	0.08584	0.500000	0.22562	0.132000	0.18615	0.563000	0.77884	AGA		0.667	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		58	287	0	0	0	1	0	58	287					A	112993336	G	A	112993336	3	1	79	1	0	0	0	0	1	0	0	0	1483	942	33	2	1375	2	BOC	3	112993336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256936	112993336	85029094	4431	14748											
BOC	91653	broad.mit.edu	37	chr3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccccagaagctcccgacaGgcccaccatctccacggcct	8	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	611	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTCCCGACAGGCCCACCATC	0.587																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1831-1833)aGg>aTg		BOC cell adhesion associated, oncogene regulated							72	60	64					3																	112998114		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998114G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1832G>T	3.37:g.112998114G>T	ENSP00000418663:p.Arg611Met					BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R611M	p.R611M			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2536	+			611			Fibronectin type-III 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1832G>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116716	0.64402	D	0.000017	T	0.74764	0.3759	M	0.78285	2.405	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75473	-0.3305	10	0.51188	T	0.08	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	612;611	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	M	611;612;611	ENSP00000418663:R611M;ENSP00000273395:R612M;ENSP00000347546:R611M	ENSP00000273395:R612M	R	+	2	0	BOC	114480804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.240000	0.78192	2.596000	0.87737	0.563000	0.77884	AGG		0.587	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		39	240	1	0	1.59361e-14	1	1.73214e-14	39	240					T	112998114	G	T	112998114	3	4	79	1	0	0	0	0	1	0	0	0	1483	1000	35	3	1870	3	BOC	3	112998114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4778	112998114	85024316	4432	14749											
WDR52	55779	broad.mit.edu	37	chr3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctacaataatttgtgctCcagtgaagtttaccttggag	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000295868.2	-	14	1745	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.G528E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1582-1584)gGa>gAa		WD repeat domain 52																																				SO:0001583	missense	55779							g.chr3:113115561C>T																												ENST00000295868.2:c.1583G>A	3.37:g.113115561C>T	ENSP00000295868:p.Gly528Glu					WDR52_ENST00000295868.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	p.G528E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			14	1649	-			528						Missense_Mutation	SNP	ENST00000295868.2	37	c.1583G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582463	0.65992	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71934	-0.61;0.38	5.49	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.81809	0.4901	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.84547	0.0642	9	0.87932	D	0	.	16.5094	0.84280	0.0:0.8692:0.1308:0.0	.	528	Q96MT7	WDR52_HUMAN	E	528	ENSP00000377428:G528E;ENSP00000295868:G528E	ENSP00000295868:G528E	G	-	2	0	WDR52	114598251	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	3.648000	0.54410	1.434000	0.47414	0.655000	0.94253	GGA		0.338	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			38	172	0	0	0	1	0	38	172					T	113115561	C	T	113115561	3	4	79	1	0	0	0	0	1	0	0	0	17358	855	30	2	4084	2	WDR52	3	113115561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117447	113115561	84906869	4433	14750											
WDR52	55779	broad.mit.edu	37	chr3	113120491	113120491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatagagaagagattcacAttcttgtctacttgaagttc	7	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000295868.2	-	10	1428	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Silent_p.N422N|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1264-1266)aaT>aaC		WD repeat domain 52							120	119	120					3																	113120491		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113120491A>G																												ENST00000295868.2:c.1266T>C	3.37:g.113120491A>G						WDR52_ENST00000295868.2_Silent_p.N422N	p.N422N	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			10	1332	-			422						Silent	SNP	ENST00000295868.2	37	c.1266T>C	CCDS2972.1																																																																																				0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			40	172	0	0	0	1	0	40	172					G	113120491	A	G	113120491	2	3	79	1	0	0	0	0	0	0	0	1	17358	214	8	4		4	WDR52	3	113120491	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4930	113120491	84901939	4434	14751											
CCDC52	152185	broad.mit.edu	37	chr3	113172681	113172681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgattctcttcacttgaatTctgaatgtctgtatcaatag	6	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113172681T>G	ENST00000295872.4	-	14	2033	c.1774A>C	c.(1774-1776)Aat>Cat	p.N592H		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	592					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCACTTGAATTCTGAATGTCT	0.423																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1774-1776)Aat>Cat		spindle and centriole associated protein 1							114	116	116					3																	113172681		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172681T>G	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1774A>C	3.37:g.113172681T>G	ENSP00000295872:p.Asn592His						p.N592H	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2033	-			592					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1774A>C	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262575	0.39995	.	.	ENSG00000163611	ENST00000295872	T	0.32988	1.43	5.64	4.41	0.53225	.	0.414683	0.25836	N	0.027982	T	0.25494	0.0620	L	0.50919	1.6	0.30464	N	0.774029	B;B	0.30937	0.301;0.129	B;B	0.27715	0.082;0.082	T	0.18241	-1.0343	10	0.39692	T	0.17	-10.3328	9.0791	0.36540	0.0:0.0:0.185:0.8149	.	488;592	B3KX77;Q8N0Z3	.;SPICE_HUMAN	H	592	ENSP00000295872:N592H	ENSP00000295872:N592H	N	-	1	0	SPICE1	114655371	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	2.641000	0.46587	2.145000	0.66743	0.460000	0.39030	AAT		0.423	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		8	452	0	0	0	1	0	8	452					G	113172681	T	G	113172681	3	3	79	1	0	0	0	0	1	0	0	0	2829	1783	62	4	813	4	CCDC52	3	113172681	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52190	113172681	84849749	4435	14752											
KIAA2018	205717	broad.mit.edu	37	chr3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgccttgatctctggGgaactgaagaattagcttga	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000478658.1	-	5	5941	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1975						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCTCTGGGGAACTGAAGA	0.493																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5923-5925)cCc>cTc		KIAA2018							76	74	75					3																	113374605		2078	4214	6292	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374605G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5924C>T	3.37:g.113374605G>A	ENSP00000420721:p.Pro1975Leu					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975L	p.P1975L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6334	-			1975					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5924C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	g	12.16	1.855688	0.32791	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12984	2.63;2.63	5.86	4.97	0.65823	.	0.406622	0.27270	N	0.020135	T	0.09423	0.0232	N	0.08118	0	0.37637	D	0.921903	B	0.20887	0.049	B	0.16722	0.016	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8651	16.9128	0.86144	0.0:0.1281:0.8719:0.0	.	1975	Q68DE3	K2018_HUMAN	L	1975	ENSP00000320794:P1975L;ENSP00000420721:P1975L	ENSP00000320794:P1975L	P	-	2	0	KIAA2018	114857295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.066000	0.57520	1.443000	0.47586	0.558000	0.71614	CCC		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	126	0	0	0	1	0	8	126					A	113374605	G	A	113374605	3	1	79	1	0	0	0	0	1	0	0	0	8298	1232	43	2	817	2	KIAA2018	3	113374605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201924	113374605	84647825	4436	14753											
KIAA2018	205717	broad.mit.edu	37	chr3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaggcggatatctgagGccacagtatggtccacacga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000478658.1	-	5	5194	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1726						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATATCTGAGGCCACAGTATG	0.408																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5176-5178)gCc>gAc		KIAA2018							119	114	115					3																	113375352		1877	4118	5995	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375352G>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5177C>A	3.37:g.113375352G>T	ENSP00000420721:p.Ala1726Asp					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.A1726D	p.A1726D	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5587	-			1726					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5177C>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	9.415	1.081650	0.20309	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.6	4.73	0.59995	.	0.444083	0.24134	N	0.041223	T	0.09598	0.0236	N	0.19112	0.55	0.19300	N	0.999979	B	0.27559	0.181	B	0.24155	0.051	T	0.21518	-1.0243	10	0.36615	T	0.2	-0.136	5.2305	0.15420	0.0798:0.1796:0.6145:0.1261	.	1726	Q68DE3	K2018_HUMAN	D	1726	ENSP00000320794:A1726D;ENSP00000420721:A1726D	ENSP00000320794:A1726D	A	-	2	0	KIAA2018	114858042	0.919000	0.31177	0.917000	0.36280	0.950000	0.60333	3.053000	0.49901	1.368000	0.46115	0.655000	0.94253	GCC		0.408	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		119	523	1	0	2.5327e-61	1	3.18828e-61	119	523					T	113375352	G	T	113375352	3	4	79	1	0	0	0	0	1	0	0	0	8298	1203	42	3	1564	3	KIAA2018	3	113375352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	747	113375352	84647078	4437	14754											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563463	113563463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaaaacaggggccaaaTttacataattggagtggtga	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113563463T>A	ENST00000358160.4	+	2	633	c.141T>A	c.(139-141)aaT>aaA	p.N47K	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	47						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGCCAAATTTACATAATT	0.368																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(139-141)aaT>aaA		GRAM domain containing 1C							119	124	122					3																	113563463		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563463T>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.141T>A	3.37:g.113563463T>A	ENSP00000350881:p.Asn47Lys					GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.N47K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			2	633	+			47					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.141T>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246325	0.22796	.	.	ENSG00000178075	ENST00000358160	T	0.29397	1.57	5.58	3.25	0.37280	.	0.928783	0.08833	N	0.887002	T	0.16727	0.0402	N	0.24115	0.695	0.20489	N	0.999892	B	0.15141	0.012	B	0.16289	0.015	T	0.34354	-0.9832	10	0.02654	T	1	.	6.0	0.19515	0.0:0.2034:0.0:0.7966	.	47	Q8IYS0	GRM1C_HUMAN	K	47	ENSP00000350881:N47K	ENSP00000350881:N47K	N	+	3	2	GRAMD1C	115046153	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.635000	0.24629	0.970000	0.38263	0.533000	0.62120	AAT		0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		15	583	0	0	0	1	0	15	583					A	113563463	T	A	113563463	3	1	79	1	0	0	0	0	1	0	0	0	6779	1490	52	5	147	5	GRAMD1C	3	113563463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188111	113563463	84458967	4438	14755											
GRAMD1C	54762	broad.mit.edu	37	chr3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaaacagagtcattcGatggaaattcatcaaaagga	8	6	4	2	rs371194067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000358160.4	+	8	1261	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	257						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(769-771)Gat>Aat		GRAM domain containing 1C		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	70	76	74		769,154	3.7	0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRAMD1C	NM_017577.4,NM_001172105.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	257/663,52/458	113623099	1,13005	2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113623099G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.769G>A	3.37:g.113623099G>A	ENSP00000350881:p.Asp257Asn					GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame	p.D257N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			8	1261	+			257					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.769G>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362379	0.24684	0.0	1.16E-4	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.45668	1.47;0.89;0.94	5.72	3.74	0.42951	.	1.651810	0.04538	N	0.387595	T	0.30386	0.0763	N	0.20807	0.61	0.20074	N	0.999931	B;B	0.16396	0.017;0.006	B;B	0.11329	0.006;0.001	T	0.21724	-1.0237	10	0.35671	T	0.21	.	6.3123	0.21171	0.24:0.0:0.76:0.0	.	90;257	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	257;90;52;52	ENSP00000350881:D257N;ENSP00000419132:D90N;ENSP00000408135:D52N	ENSP00000350881:D257N	D	+	1	0	GRAMD1C	115105789	0.935000	0.31712	0.013000	0.15412	0.698000	0.40448	1.780000	0.38634	0.693000	0.31634	0.563000	0.77884	GAT		0.348	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		54	284	0	0	0	1	0	54	284					A	113623099	G	A	113623099	3	1	79	1	0	0	0	0	1	0	0	0	6779	1058	37	1	799	1	GRAMD1C	3	113623099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59636	113623099	84399331	4439	14756											
KIAA1407	57577	broad.mit.edu	37	chr3	113697720	113697720	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacctgtagccagctctgGatgactctcttaagcagtat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2443-2445)atC>atT		KIAA1407							196	193	194					3																	113697720		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113697720G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2445C>T	3.37:g.113697720G>A						KIAA1407_ENST00000545063.1_3'UTR	p.I815I	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			15	2591	-			815					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2445C>T	CCDS2977.1																																																																																				0.418	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		167	692	0	0	0	1	0	167	692					A	113697720	G	A	113697720	2	1	79	1	0	0	0	0	0	0	0	1	8259	1164	41	2		2	KIAA1407	3	113697720	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74621	113697720	84324710	4440	14757											
KIAA1407	57577	broad.mit.edu	37	chr3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcgttttctttcaagCtgtgcctccttttcttctgc	5	13	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	708										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2122-2124)caG>caT		KIAA1407							319	302	308					3																	113720481		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113720481C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2124G>T	3.37:g.113720481C>A	ENSP00000295878:p.Gln708His					KIAA1407_ENST00000545063.1_3'UTR	p.Q708H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			13	2270	-			708					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2124G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125908	0.56721	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.19	-1.44	0.08856	.	0.303015	0.36200	N	0.002729	T	0.47893	0.1470	M	0.72118	2.19	0.50813	D	0.999891	D	0.69078	0.997	P	0.60473	0.875	T	0.45220	-0.9276	10	0.42905	T	0.14	.	9.9535	0.41653	0.0:0.3164:0.0:0.6836	.	708	Q8NCU4	K1407_HUMAN	H	708	ENSP00000295878:Q708H	ENSP00000295878:Q708H	Q	-	3	2	KIAA1407	115203171	0.796000	0.28864	0.651000	0.29564	0.985000	0.73830	-0.007000	0.12810	-0.159000	0.11021	-0.355000	0.07637	CAG		0.443	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		64	786	1	0	6.8682e-38	1	8.26113e-38	64	786					A	113720481	C	A	113720481	3	1	79	1	0	0	0	0	1	0	0	0	8259	796	28	3	706	3	KIAA1407	3	113720481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22761	113720481	84301949	4441	14758											
DRD3	1814	broad.mit.edu	37	chr3	113858410	113858410	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcgagtgaggatccttttCcgtctcctttgtttcagcac	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000460779.1	-	6	949	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000383673.2_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000467632.1_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	220					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(658-660)cgG>cgT		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						197	192	193					3																	113858410		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113858410C>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.660G>T	3.37:g.113858410C>A						DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000460779.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R	p.R220R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			5	1090	-			220					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.660G>T	CCDS2978.1																																																																																				0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		162	674	1	0	2.77756e-48	1	3.42715e-48	162	674					A	113858410	C	A	113858410	2	1	79	1	0	0	0	0	0	0	0	1	4774	842	30	3		3	DRD3	3	113858410	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137929	113858410	84164020	4442	14759											
ZNF80	7634	broad.mit.edu	37	chr3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtccccaacccatcgcGtttagggctcatcttcctcc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	5					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.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AACCCATCGCGTTTAGGGCTC	0.542																																					GBM(23;986 1114 21716)	ENST00000482457.2																			1	Complex(1)	p.R5>?(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(13-15)Cgc>Tgc		zinc finger protein 80							88	90	89					3																	113955909		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955909G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.13C>T	3.37:g.113955909G>A	ENSP00000417192:p.Arg5Cys						p.R5C	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	516	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	5					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.13C>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134667	0.09032	.	.	ENSG00000174255	ENST00000482457	T	0.22743	1.94	2.44	-1.91	0.07641	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40098	-0.9581	9	0.02654	T	1	.	8.0728	0.30699	0.7061:0.0:0.2939:0.0	.	5	P51504	ZNF80_HUMAN	C	5	ENSP00000417192:R5C	ENSP00000309812:R5C	R	-	1	0	ZNF80	115438599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-0.552000	0.06167	-0.355000	0.07637	CGC		0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		100	386	0	0	0	1	0	100	386					A	113955909	G	A	113955909	3	1	79	1	0	0	0	0	1	0	0	0	18221	1145	40	1	812	1	ZNF80	3	113955909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97499	113955909	84066521	4443	14760											
TIGIT	201633	broad.mit.edu	37	chr3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcttggagccatggccGcgacgctggtggtcatctgc	14	12	2	0	rs369133784		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(643-645)Gcg>Acg		T cell immunoreceptor with Ig and ITIM domains		G	THR/ALA	0,4406		0,0,2203	91	76	81		442	-8.2	0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114018494G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.442G>A	3.37:g.114018494G>A	ENSP00000419085:p.Ala148Thr					TIGIT_ENST00000486257.1_Missense_Mutation_p.A148T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T	p.A215T			Q495A1	TIGIT_HUMAN			4	3258	+			148					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.643G>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG		0.582	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		39	214	0	0	0	1	0	39	214					A	114018494	G	A	114018494	3	1	79	1	0	0	0	0	1	0	0	0	15954	1087	38	1	452	1	TIGIT	3	114018494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62585	114018494	84003936	4444	14761											
ZBTB20	26137	broad.mit.edu	37	chr3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctggcactgtgcagggCcacgtgtcgctccaggaggg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000474710.1	-	5	2222	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	682						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)			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)		CTGTGCAGGGCCACGTGTCGC	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(1825-1827)Gcc>Acc		zinc finger and BTB domain containing 20							98	90	92					3																	114058034		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058034C>T	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.2044G>A	3.37:g.114058034C>T	ENSP00000419153:p.Ala682Thr					ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A682T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T	p.A609T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2646	-			682					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1825G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409447	0.83340	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.55444	-0.8140	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	682	Q9HC78	ZBT20_HUMAN	T	609;609;609;609;682;609;609	ENSP00000420324:A609T;ENSP00000377375:A609T;ENSP00000418092:A609T;ENSP00000419902:A609T;ENSP00000419153:A682T;ENSP00000349803:A609T;ENSP00000417307:A609T	ENSP00000349803:A609T	A	-	1	0	ZBTB20	115540724	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.842000	0.69417	2.941000	0.99782	0.655000	0.94253	GCC		0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		85	413	0	0	0	1	0	85	413					T	114058034	C	T	114058034	3	4	79	1	0	0	0	0	1	0	0	0	17582	739	26	2	185	2	ZBTB20	3	114058034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39540	114058034	83964396	4445	14762											
ZBTB20	26137	broad.mit.edu	37	chr3	114069698	114069698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttctgcagcctgctcGggttgggtgggttcagcctg	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409						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)			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)		CAGCCTGCTCGGGTTGGGTGG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(1006-1008)ccC>ccT		zinc finger and BTB domain containing 20							47	51	50					3																	114069698		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069698G>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.1227C>T	3.37:g.114069698G>A						ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000474710.1_Silent_p.P409P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P	p.P336P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1829	-			409					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1008C>T	CCDS54626.1																																																																																				0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		88	413	0	0	0	1	0	88	413					A	114069698	G	A	114069698	2	1	79	1	0	0	0	0	0	0	0	1	17582	1103	39	1		1	ZBTB20	3	114069698	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11664	114069698	83952732	4446	14763											
ZBTB20	26137	broad.mit.edu	37	chr3	114069836	114069836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcactctcggtgccctcGgcctggtctgtgtcttccgt	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000474710.1	-	4	1267	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20_ENST00000462705.1_Silent_p.A290A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A290A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	363						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)			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)		CGGTGCCCTCGGCCTGGTCTG	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(868-870)gcC>gcT		zinc finger and BTB domain containing 20							96	66	76					3																	114069836		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069836G>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.1089C>T	3.37:g.114069836G>A						ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000474710.1_Silent_p.A363A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A	p.A290A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1691	-			363					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.870C>T	CCDS54626.1																																																																																				0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		82	278	0	0	0	1	0	82	278					A	114069836	G	A	114069836	2	1	79	1	0	0	0	0	0	0	0	1	17582	1103	39	1		1	ZBTB20	3	114069836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	114069836	83952594	4447	14764											
ZBTB20	26137	broad.mit.edu	37	chr3	114070337	114070337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaacacatcgcccacGttctgtgacacgatgcgcgt	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000474710.1	-	4	766	c.588C>T	c.(586-588)aaC>aaT	p.N196N	ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20_ENST00000462705.1_Silent_p.N123N|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.N123N	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	196						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)			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)		CATCGCCCACGTTCTGTGACA	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(367-369)aaC>aaT		zinc finger and BTB domain containing 20							75	62	66					3																	114070337		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070337G>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.588C>T	3.37:g.114070337G>A						ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000474710.1_Silent_p.N196N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N	p.N123N	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1190	-			196			BTB.		Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.369C>T	CCDS54626.1																																																																																				0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		56	328	0	0	0	1	0	56	328					A	114070337	G	A	114070337	2	1	79	1	0	0	0	0	0	0	0	1	17582	1136	40	1		1	ZBTB20	3	114070337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	114070337	83952093	4448	14765											
ZBTB20	26137	broad.mit.edu	37	chr3	114070553	114070553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaagaaggggctgccGgctgccagcacgcagcggtg	17	12	0	1	rs554447265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000474710.1	-	4	550	c.372C>T	c.(370-372)gcC>gcT	p.A124A	ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20_ENST00000462705.1_Silent_p.A51A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A51A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	124	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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)			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)		AGGGGCTGCCGGCTGCCAGCA	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0				NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				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						c.(151-153)gcC>gcT		zinc finger and BTB domain containing 20							44	42	42					3																	114070553		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070553G>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.372C>T	3.37:g.114070553G>A						ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000474710.1_Silent_p.A124A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A	p.A51A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	974	-			124					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.153C>T	CCDS54626.1																																																																																				0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		45	220	0	0	0	1	0	45	220					A	114070553	G	A	114070553	2	1	79	1	0	0	0	0	0	0	0	1	17582	1103	39	1		1	ZBTB20	3	114070553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	114070553	83951877	4449	14766											
ZBTB20	26137	broad.mit.edu	37	chr3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttgatgctgtgaatgCgctcggtcatccccttgcaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000474710.1	-	4	408	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	77						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.R4H(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)		GCTGTGAATGCGCTCGGTCAT	0.537																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Substitution - Missense(1)	p.R4H(1)	large_intestine(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						c.(10-12)cGc>cAc		zinc finger and BTB domain containing 20							75	76	76					3																	114070695		2202	4298	6500	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070695C>T	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.230G>A	3.37:g.114070695C>T	ENSP00000419153:p.Arg77His					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R77H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H	p.R4H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	832	-			77					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.11G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893482	0.91889	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.46819	2.67;2.67;2.67;2.67;2.78;2.67;2.67;0.86	6.1	6.1	0.99115	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.65249	-0.6214	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	77	Q9HC78	ZBT20_HUMAN	H	4;4;4;4;77;4;4;4	ENSP00000420324:R4H;ENSP00000377375:R4H;ENSP00000418092:R4H;ENSP00000419902:R4H;ENSP00000419153:R77H;ENSP00000349803:R4H;ENSP00000417307:R4H;ENSP00000420684:R4H	ENSP00000349803:R4H	R	-	2	0	ZBTB20	115553385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	CGC		0.537	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		38	314	0	0	0	1	0	38	314					T	114070695	C	T	114070695	3	4	79	1	0	0	0	0	1	0	0	0	17582	768	27	1	2003	1	ZBTB20	3	114070695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	114070695	83951735	4450	14767											
GAP43	2596	broad.mit.edu	37	chr3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgttgccgatggggtgGagaagaagggagaaggcacc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000305124.6	+	2	601	c.235G>A	c.(235-237)Gag>Aag	p.E79K	GAP43_ENST00000393780.3_Missense_Mutation_p.E115K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E79Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGATGGGGTGGAGAAGAAGGG	0.537																																						ENST00000393780.3																			1	Substitution - Missense(1)	p.E79Q(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(343-345)Gag>Aag		growth associated protein 43							81	78	79					3																	115395064		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395064G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.235G>A	3.37:g.115395064G>A	ENSP00000305010:p.Glu79Lys					GAP43_ENST00000305124.6_Missense_Mutation_p.E79K	p.E115K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	811	+			79					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.343G>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602679	0.46423	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60672	0.17;0.17	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	D	0.000698	T	0.54481	0.1861	M	0.63843	1.955	0.39176	D	0.962681	B;B	0.31153	0.31;0.065	B;B	0.32465	0.146;0.033	T	0.60667	-0.7218	10	0.52906	T	0.07	-7.7158	11.4995	0.50428	0.0825:0.0:0.9175:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	K	79;115	ENSP00000305010:E79K;ENSP00000377372:E115K	ENSP00000305010:E79K	E	+	1	0	GAP43	116877754	0.987000	0.35691	0.830000	0.32933	0.857000	0.48899	3.281000	0.51685	2.547000	0.85894	0.655000	0.94253	GAG		0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		60	296	0	0	0	1	0	60	296					A	115395064	G	A	115395064	3	1	79	1	0	0	0	0	1	0	0	0	6263	1175	41	2	383	2	GAP43	3	115395064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324369	115395064	82627366	4451	14768											
GAP43	2596	broad.mit.edu	37	chr3	115395285	115395285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccactgataactcgccGtcctccaaggctgaagatgc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000305124.6	+	2	822	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GAP43_ENST00000393780.3_Silent_p.P188P	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	152					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(562-564)ccG>ccA		growth associated protein 43							37	40	39					3																	115395285		2203	4298	6501	SO:0001819	synonymous_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395285G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.456G>A	3.37:g.115395285G>A						GAP43_ENST00000305124.6_Silent_p.P152P	p.P188P	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	1032	+			152					A8K0Y4	Silent	SNP	ENST00000305124.6	37	c.564G>A	CCDS33830.1																																																																																				0.617	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		53	200	0	0	0	1	0	53	200					A	115395285	G	A	115395285	2	1	79	1	0	0	0	0	0	0	0	1	6263	1132	40	1		1	GAP43	3	115395285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	115395285	82627145	4452	14769											
LSAMP	4045	broad.mit.edu	37	chr3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtattccagagaatggCgtttctccagctcaacccgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(265-267)cGc>cAc		limbic system-associated membrane protein							122	110	114					3																	115805293		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805293C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.266G>A	3.37:g.115805293C>T	ENSP00000419000:p.Arg89His					LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	p.R89H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	765	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	89			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.266G>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164072	0.78339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.58061	0.2096	N	0.14661	0.345	0.46954	D	0.999262	D;B	0.54207	0.965;0.425	P;P	0.49922	0.615;0.626	T	0.59705	-0.7404	10	0.39692	T	0.17	-10.0134	13.7134	0.62682	0.1536:0.8463:0.0:0.0	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	H	73;89;86;123	ENSP00000328455:R73H;ENSP00000419000:R89H;ENSP00000443429:R86H;ENSP00000418506:R123H	ENSP00000328455:R73H	R	-	2	0	LSAMP	117287983	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.668000	0.90789	0.555000	0.69702	CGC		0.512	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		48	203	0	0	0	1	0	48	203					T	115805293	C	T	115805293	3	4	79	1	0	0	0	0	1	0	0	0	9086	768	27	1	774	1	LSAMP	3	115805293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410008	115805293	82217137	4453	14770											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084170	119084170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttacatagttccataCgttttgaagagctgtgcaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	36	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGTTCCATACGTTTTGAAGA	0.363																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(106-108)taC>taT		Rho GTPase activating protein 31							83	75	78					3																	119084170		1842	4105	5947	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119084170C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.108C>T	3.37:g.119084170C>T							p.Y36Y	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			2	640	+			36			Rho-GAP.		Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.108C>T	CCDS43135.1																																																																																				0.363	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			45	220	0	0	0	1	0	45	220					T	119084170	C	T	119084170	2	4	79	1	0	0	0	0	0	0	0	1	880	547	19	1		1	ARHGAP31	3	119084170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3278877	119084170	78938260	4454	14771											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttgaagagctgtgcagAatttatagagactcacggca	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	43	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTGTGCAGAATTTATAGAG	0.358																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(127-129)gAa>gCa		Rho GTPase activating protein 31							99	89	92					3																	119084190		1855	4127	5982	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119084190A>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.128A>C	3.37:g.119084190A>C	ENSP00000264245:p.Glu43Ala						p.E43A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			2	660	+			43			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.128A>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787608	0.49997	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070936	0.53938	D	0.000057	T	0.33876	0.0878	L	0.52126	1.63	0.80722	D	1	P	0.37083	0.581	P	0.49502	0.613	T	0.03212	-1.1060	10	0.51188	T	0.08	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	43	Q2M1Z3	RHG31_HUMAN	A	43;43;14	ENSP00000264245:E43A;ENSP00000418429:E14A	ENSP00000264245:E43A	E	+	2	0	ARHGAP31	120566880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAA		0.358	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			53	234	0	0	0	1	0	53	234					C	119084190	A	C	119084190	3	2	79	1	0	0	0	0	1	0	0	0	880	246	9	4	134	4	ARHGAP31	3	119084190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	119084190	78938240	4455	14772											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128481	119128481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccagaaagctccttgaGctctcaacatttaaatgaat	5	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119128481G>A	ENST00000264245.4	+	11	2316	c.1784G>A	c.(1783-1785)aGc>aAc	p.S595N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	595					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTCCTTGAGCTCTCAACAT	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1783-1785)aGc>aAc		Rho GTPase activating protein 31							28	32	31					3																	119128481		1896	4104	6000	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128481G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1784G>A	3.37:g.119128481G>A	ENSP00000264245:p.Ser595Asn						p.S595N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2316	+			595					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1784G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268380	0.01433	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06687	3.27	5.27	3.44	0.39384	.	0.625587	0.15216	N	0.274181	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.40961	-0.9535	10	0.26408	T	0.33	.	6.9468	0.24522	0.0926:0.1758:0.7316:0.0	.	595	Q2M1Z3	RHG31_HUMAN	N	595	ENSP00000264245:S595N	ENSP00000264245:S595N	S	+	2	0	ARHGAP31	120611171	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.240000	0.18042	0.757000	0.33036	0.563000	0.77884	AGC		0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			5	142	0	0	0	1	0	5	142					A	119128481	G	A	119128481	3	1	79	1	0	0	0	0	1	0	0	0	880	971	34	2	1826	2	ARHGAP31	3	119128481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44291	119128481	78893949	4456	14773											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcttccacagcagccaGcagagagaagccggaacctg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	735	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2203-2205)aGc>aAc		Rho GTPase activating protein 31							54	59	57					3																	119132980		1965	4147	6112	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119132980G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2204G>A	3.37:g.119132980G>A	ENSP00000264245:p.Ser735Asn						p.S735N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2736	+			735			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2204G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	2.576	-0.298530	0.05532	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.3	-5.78	0.02362	.	0.804525	0.11439	N	0.564024	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.6946	0.40150	0.2901:0.0:0.5885:0.1214	.	735	Q2M1Z3	RHG31_HUMAN	N	735	ENSP00000264245:S735N	ENSP00000264245:S735N	S	+	2	0	ARHGAP31	120615670	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.413000	0.07123	-0.783000	0.04534	-0.290000	0.09829	AGC		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			95	407	0	0	0	1	0	95	407					A	119132980	G	A	119132980	3	1	79	1	0	0	0	0	1	0	0	0	880	971	34	2	2250	2	ARHGAP31	3	119132980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	119132980	78889450	4457	14774											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagctagggacacacctgGggcacagcagtccacagatt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1051					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3151-3153)Ggg>Tgg		Rho GTPase activating protein 31							117	132	127					3																	119133927		2128	4238	6366	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133927G>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3151G>T	3.37:g.119133927G>T	ENSP00000264245:p.Gly1051Trp						p.G1051W	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3683	+			1051					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3151G>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709532	0.30322	.	.	ENSG00000031081	ENST00000264245	T	0.06608	3.28	5.39	1.34	0.21922	.	0.947823	0.08777	N	0.895302	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.39035	-0.9633	10	0.66056	D	0.02	.	3.8652	0.09013	0.1481:0.2452:0.4921:0.1147	.	1051	Q2M1Z3	RHG31_HUMAN	W	1051	ENSP00000264245:G1051W	ENSP00000264245:G1051W	G	+	1	0	ARHGAP31	120616617	0.001000	0.12720	0.000000	0.03702	0.842000	0.47809	0.926000	0.28804	0.376000	0.24707	0.655000	0.94253	GGG		0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			89	800	1	0	3.24273e-39	1	3.91873e-39	89	800					T	119133927	G	T	119133927	3	4	79	1	0	0	0	0	1	0	0	0	880	1232	43	3	3197	3	ARHGAP31	3	119133927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	119133927	78888503	4458	14775											
TMEM39A	55254	broad.mit.edu	37	chr3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattaaactgttcttttagcGactccagcaacaaggagaga	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	247			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)		p.S247L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483																																						ENST00000319172.5																			1	Substitution - Missense(1)	p.S247L(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(739-741)tCg>tTg		transmembrane protein 39A							81	79	80					3																	119156786		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119156786G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.740C>T	3.37:g.119156786G>A	ENSP00000326063:p.Ser247Leu					TMEM39A_ENST00000486159.1_5'UTR	p.S247L	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	1160	-			247		S -> L (in a breast cancer sample; somatic mutation).			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.740C>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967277	0.53507	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46819	0.86	5.5	4.61	0.57282	.	0.215456	0.48767	D	0.000173	T	0.30603	0.0770	N	0.22421	0.69	0.47905	D	0.999546	P	0.51653	0.947	B	0.36808	0.233	T	0.04946	-1.0916	10	0.23302	T	0.38	-6.975	15.2941	0.73891	0.0:0.1406:0.8594:0.0	.	247	Q9NV64	TM39A_HUMAN	L	247;93	ENSP00000326063:S247L	ENSP00000326063:S247L	S	-	2	0	TMEM39A	120639476	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.825000	0.62708	1.289000	0.44618	0.650000	0.86243	TCG		0.483	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		66	248	0	0	0	1	0	66	248					A	119156786	G	A	119156786	3	1	79	1	0	0	0	0	1	0	0	0	16213	1059	37	1	742	1	TMEM39A	3	119156786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22859	119156786	78865644	4459	14776											
TMEM39A	55254	broad.mit.edu	37	chr3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtcaatgaactgttacctCtgagatgagagcccatacaa	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	140						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(418-420)Gag>Tag		transmembrane protein 39A							78	73	75					3																	119171296		2203	4300	6503	SO:0001587	stop_gained	55254					integral to membrane		g.chr3:119171296C>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.418G>T	3.37:g.119171296C>A	ENSP00000326063:p.Glu140*					TMEM39A_ENST00000486159.1_Intron	p.E140*	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	4	838	-			140					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Nonsense_Mutation	SNP	ENST00000319172.5	37	c.418G>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526548	0.97637	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.7115	17.331	0.87264	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000326063:E140X	E	-	1	0	TMEM39A	120653986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.559000	0.86315	0.655000	0.94253	GAG		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		14	153	1	0	1.5739e-10	1	1.67034e-10	14	153					A	119171296	C	A	119171296	4	1	79	1	0	0	0	0	0	1	0	0	16213	922	32	3	1072	3	TMEM39A	3	119171296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14510	119171296	78851134	4460	14777											
KTELC1	56983	broad.mit.edu	37	chr3	119211264	119211264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatcaaattattcccaaAatgttgaaaactgaactata	4	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119211264A>C	ENST00000295588.4	+	11	1242	c.1158A>C	c.(1156-1158)aaA>aaC	p.K386N		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	386					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)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTATTCCCAAAATGTTGAAAA	0.383																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(1156-1158)aaA>aaC		protein O-glucosyltransferase 1							90	88	89					3																	119211264		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119211264A>C	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.1158A>C	3.37:g.119211264A>C	ENSP00000295588:p.Lys386Asn						p.K386N	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			11	1242	+			386					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.1158A>C	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308750	0.60305	.	.	ENSG00000163389	ENST00000295588	T	0.23552	1.9	5.97	4.78	0.61160	.	0.308341	0.40818	N	0.001016	T	0.21801	0.0525	L	0.36672	1.1	0.27158	N	0.961245	B	0.31459	0.324	B	0.34038	0.174	T	0.18304	-1.0341	10	0.62326	D	0.03	-4.1653	10.3779	0.44092	0.8369:0.1631:0.0:0.0	.	386	Q8NBL1	PGLT1_HUMAN	N	386	ENSP00000295588:K386N	ENSP00000295588:K386N	K	+	3	2	POGLUT1	120693954	1.000000	0.71417	0.889000	0.34880	0.971000	0.66376	4.685000	0.61693	2.288000	0.76882	0.533000	0.62120	AAA		0.383	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		46	213	0	0	0	1	0	46	213					C	119211264	A	C	119211264	3	2	79	1	0	0	0	0	1	0	0	0	8614	11	1	4	1200	4	KTELC1	3	119211264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39968	119211264	78811166	4461	14778											
CD80	941	broad.mit.edu	37	chr3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgttcccgcttgaaagcgtCtttttcatacttcagaacaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	124	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TTGAAAGCGTCTTTTTCATAC	0.463																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(370-372)Gac>Tac		CD80 molecule	Abatacept(DB01281)						111	112	112					3																	119263445		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119263445C>A		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.370G>T	3.37:g.119263445C>A	ENSP00000264246:p.Asp124Tyr					CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN			3	732	-			124			Ig-like V-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.370G>T	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564544	0.45694	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	2.34	0.29019	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616448	0.14576	N	0.311191	T	0.48519	0.1504	N	0.02751	-0.505	0.09310	N	1	D;D;D;D	0.64830	0.994;0.984;0.992;0.992	P;P;P;P	0.53146	0.719;0.565;0.707;0.707	T	0.37407	-0.9707	10	0.72032	D	0.01	-3.8667	4.979	0.14155	0.0:0.6393:0.1739:0.1869	.	124;124;124;124	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	124	ENSP00000264246:D124Y;ENSP00000418364:D124Y;ENSP00000373165:D124Y;ENSP00000373164:D124Y	ENSP00000264246:D124Y	D	-	1	0	CD80	120746135	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.302000	0.19192	0.318000	0.23185	0.650000	0.86243	GAC		0.463	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		86	390	1	0	4.08182e-41	1	4.95533e-41	86	390					A	119263445	C	A	119263445	3	1	79	1	0	0	0	0	1	0	0	0	3047	913	32	3	512	3	CD80	3	119263445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52181	119263445	78758985	4462	14779											
POPDC2	64091	broad.mit.edu	37	chr3	119379151	119379151	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccactgccccccatgaaGcccaggagtaagaggcagtt	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000264231.3	-	1	286	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000493094.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.G40G	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	40					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCCATGAAGCCCAGGAGTA	0.572																																						ENST00000493094.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(118-120)ggC>ggA		popeye domain containing 2							95	86	89					3																	119379151		2203	4300	6503	SO:0001819	synonymous_variant	64091					integral to membrane		g.chr3:119379151G>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.120C>A	3.37:g.119379151G>T						POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000264231.3_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000468801.1_Silent_p.G40G	p.G40G			Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	1	579	-			40					Q86UE7	Silent	SNP	ENST00000264231.3	37	c.120C>A	CCDS2992.1																																																																																				0.572	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		45	217	1	0	1.76056e-25	1	2.02043e-25	45	217					T	119379151	G	T	119379151	2	4	79	1	0	0	0	0	0	0	0	1	12297	958	34	3		3	POPDC2	3	119379151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115706	119379151	78643279	4463	14780											
COX17	10063	broad.mit.edu	37	chr3	119394074	119394074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgttcttctcctttctcGatgatactataaaacaaaat	4	9	3	1	rs143622776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000261070.2	-	2	206	c.114C>T	c.(112-114)atC>atT	p.I38I	COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	38					brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.0					ENST00000261070.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)	3						c.(112-114)atC>atT		COX17 cytochrome c oxidase copper chaperone		G		4,4402	8.1+/-20.4	0,4,2199	107	100	102		114	-9.6	0.6	3	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	COX17	NM_005694.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		38/64	119394074	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10063				copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity	g.chr3:119394074G>A	L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"Mitochondrial respiratory chain complex assembly factors"	2264	protein-coding gene	gene with protein product		604813	"COX17 (yeast) homolog, cytochrome c oxidase assembly protein", "COX17 homolog, cytochrome c oxidase assembly protein (yeast)", "COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)", "COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 17 (yeast)"			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.114C>T	3.37:g.119394074G>A						COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	p.I38I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN		GBM - Glioblastoma multiforme(114;0.227)	2	206	-			38					B2R5D2|D3DN84|Q3MHD6	Silent	SNP	ENST00000261070.2	37	c.114C>T	CCDS2993.1																																																																																				0.363	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	NM_005694		44	237	0	0	0	1	0	44	237					A	119394074	G	A	119394074	2	1	79	1	0	0	0	0	0	0	0	1	3775	1048	37	1		1	COX17	3	119394074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14923	119394074	78628356	4464	14781											
C3orf15	89876	broad.mit.edu	37	chr3	119427480	119427480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaaagaagtttatgaagaTcctgaagttactggaaagaa	9	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119427480T>G	ENST00000273390.5	+	4	479	c.402T>G	c.(400-402)gaT>gaG	p.D134E	MAATS1_ENST00000463700.1_Missense_Mutation_p.D134E	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	134						mitochondrion (GO:0005739)											TTTATGAAGATCCTGAAGTTA	0.289																																						ENST00000273390.5																			0											c.(400-402)gaT>gaG		MYCBP-associated, testis expressed 1							55	61	59					3																	119427480		2202	4290	6492	SO:0001583	missense	89876							g.chr3:119427480T>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.402T>G	3.37:g.119427480T>G	ENSP00000273390:p.Asp134Glu					MAATS1_ENST00000463700.1_Missense_Mutation_p.D134E	p.D134E	NM_033364.3	NP_203528.2					4	479	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.402T>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.605122	0.28623	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.44083	1.95;0.93	5.98	3.67	0.42095	.	0.276819	0.40818	N	0.001016	T	0.57051	0.2027	M	0.65975	2.015	0.27480	N	0.952606	B;P;D;D;D	0.89917	0.087;0.532;0.996;0.996;1.0	B;B;D;D;D	0.77557	0.108;0.122;0.946;0.99;0.974	T	0.46034	-0.9220	10	0.33940	T	0.23	-0.2104	10.004	0.41946	0.0:0.1242:0.0:0.8758	.	134;72;134;134;134	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	E	134	ENSP00000273390:D134E;ENSP00000419489:D134E	ENSP00000273390:D134E	D	+	3	2	C3orf15	120910170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.310000	0.33551	2.289000	0.77006	0.533000	0.62120	GAT		0.289	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		15	201	0	0	0	1	0	15	201					G	119427480	T	G	119427480	3	3	79	1	0	0	0	0	1	0	0	0	2216	1432	50	4	416	4	C3orf15	3	119427480	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33406	119427480	78594950	4465	14782											
NR1I2	8856	broad.mit.edu	37	chr3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctccctgctgaaggggGccgctttcgagctgtgtcaa	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000337940.4	+	6	1000	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	NR1I2_ENST00000393716.2_Missense_Mutation_p.A279T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(835-837)Gcc>Acc		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						59	52	55					3																	119533866		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119533866G>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.952G>A	3.37:g.119533866G>A	ENSP00000336528:p.Ala318Thr					NR1I2_ENST00000337940.4_Missense_Mutation_p.A318T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	p.A279T	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	6	2674	+			279			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.835G>A	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437170	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95918	-3.85;-3.85;-3.85	4.31	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.169319	0.52532	D	0.000078	D	0.96408	0.8828	M	0.78344	2.41	0.41774	D	0.989785	P;D;P	0.65815	0.956;0.995;0.69	B;P;B	0.58077	0.384;0.832;0.394	D	0.96231	0.9168	10	0.72032	D	0.01	.	9.8161	0.40853	0.0:0.0:0.795:0.205	.	279;318;265	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	T	279;242;318	ENSP00000377319:A279T;ENSP00000420297:A242T;ENSP00000336528:A318T	ENSP00000336528:A318T	A	+	1	0	NR1I2	121016556	0.075000	0.21258	0.975000	0.42487	0.346000	0.29079	2.305000	0.43664	2.393000	0.81446	0.655000	0.94253	GCC		0.612	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			54	244	0	0	0	1	0	54	244					A	119533866	G	A	119533866	3	1	79	1	0	0	0	0	1	0	0	0	10662	1203	42	2	974	2	NR1I2	3	119533866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106386	119533866	78488564	4466	14783											
NR1I2	8856	broad.mit.edu	37	chr3	119536008	119536008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcatccaggacatacaCccctttgctacgcccctcat	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000337940.4	+	9	1419	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	NR1I2_ENST00000393716.2_Silent_p.H418H|NR1I2_ENST00000466380.1_Silent_p.H381H	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	418					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(1252-1254)caC>caT		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						97	93	95					3																	119536008		2203	4300	6503	SO:0001819	synonymous_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536008C>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1371C>T	3.37:g.119536008C>T						NR1I2_ENST00000337940.4_Silent_p.H457H|NR1I2_ENST00000466380.1_Silent_p.H381H	p.H418H	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3093	+			418			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	c.1254C>T	CCDS2995.1																																																																																				0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			58	397	0	0	0	1	0	58	397					T	119536008	C	T	119536008	2	4	79	1	0	0	0	0	0	0	0	1	10662	506	18	2		2	NR1I2	3	119536008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2142	119536008	78486422	4467	14784											
GSK3B	2932	broad.mit.edu	37	chr3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgctaactttcatgCtgccaaaagctgaaggctgc	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N|RP11-18H7.1_ENST00000469070.1_lincRNA	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	25					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(73-75)aGc>aAc		glycogen synthase kinase 3 beta	Lithium(DB01356)						106	112	110					3																	119812208		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119812208C>T	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.74G>A	3.37:g.119812208C>T	ENSP00000264235:p.Ser25Asn					GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	1	1056	-			25					D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.74G>A	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006165	0.19199	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59906	0.23;0.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.19112	0.55	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.20046	T	0.44	-7.0844	15.0088	0.71533	0.0:1.0:0.0:0.0	.	25;25	P49841;P49841-2	GSK3B_HUMAN;.	N	25	ENSP00000264235:S25N;ENSP00000324806:S25N	ENSP00000264235:S25N	S	-	2	0	GSK3B	121294898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.118000	0.64928	0.551000	0.68910	AGC		0.468	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			76	425	0	0	0	1	0	76	425					T	119812208	C	T	119812208	3	4	79	1	0	0	0	0	1	0	0	0	6854	797	28	2	1275	2	GSK3B	3	119812208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276200	119812208	78210222	4468	14785											
NDUFB4	4710	broad.mit.edu	37	chr3	120315332	120315332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttggccataagagcccaGctgaaacgagagtacctgct	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000184266.2	+	1	177	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000485064.1_Silent_p.Q42Q|NDUFB4_ENST00000492739.1_Silent_p.Q42Q	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	42					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		TAAGAGCCCAGCTGAAACGAG	0.632																																						ENST00000485064.1																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(124-126)caG>caA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	NADH(DB00157)						30	29	29					3																	120315332		2203	4296	6499	SO:0001819	synonymous_variant	4710				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:120315332G>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"Mitochondrial respiratory chain complex / Complex I"	7699	protein-coding gene	gene with protein product	"complex I B15 subunit"	603840	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.126G>A	3.37:g.120315332G>A						NDUFB4_ENST00000492739.1_Silent_p.Q42Q|NDUFB4_ENST00000184266.2_Silent_p.Q42Q	p.Q42Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN		GBM - Glioblastoma multiforme(114;0.14)	1	158	+			42					B2RUY3|B9EJC7	Silent	SNP	ENST00000184266.2	37	c.126G>A	CCDS2999.1																																																																																				0.632	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		24	112	0	0	0	1	0	24	112					A	120315332	G	A	120315332	2	1	79	1	0	0	0	0	0	0	0	1	10325	962	34	2		2	NDUFB4	3	120315332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503124	120315332	77707098	4469	14786											
HGD	3081	broad.mit.edu	37	chr3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtgtataattcccgtgCcaggccacaacattgaacgg	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	268					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(802-804)tgG>tgA		homogentisate 1,2-dioxygenase							150	133	139					3																	120360511		2203	4300	6503	SO:0001587	stop_gained	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120360511C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.804G>A	3.37:g.120360511C>T	ENSP00000283871:p.Trp268*						p.W268*	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	11	1263	-			268					A8K417|B2R8Z0	Nonsense_Mutation	SNP	ENST00000283871.5	37	c.804G>A	CCDS3000.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	5.999160|5.999160|5.999160	0.97189|0.97189|0.97189	.|.|.	.|.|.	ENSG00000113924|ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453|ENST00000283871	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.254500	.|.|0.42964	.|.|D	.|.|0.000639	T|T|.	0.46288|0.46288|.	0.1385|0.1385|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34129|0.34129|.	-0.9841|-0.9841|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-16.2027|-16.2027|-16.2027	18.3691|18.3691|18.3691	0.90401|0.90401|0.90401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	78|75|268	.|.|.	.|.|ENSP00000283871:W268X	A|G|W	-|-|-	1|2|3	0|0|0	HGD|HGD|HGD	121843201|121843201|121843201	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	7.278000|7.278000|7.278000	0.78587|0.78587|0.78587	2.885000|2.885000|2.885000	0.99019|0.99019|0.99019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG		0.433	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			63	342	0	0	0	1	0	63	342					T	120360511	C	T	120360511	4	4	79	1	0	0	0	0	0	1	0	0	7114	740	26	2	549	2	HGD	3	120360511	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45179	120360511	77661919	4470	14787											
HGD	3081	broad.mit.edu	37	chr3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccatagacctccaagAtgtagcccctggtctcctca	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	200					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(598-600)aTc>aCc		homogentisate 1,2-dioxygenase							134	123	127					3																	120365164		2203	4300	6503	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365164A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.599T>C	3.37:g.120365164A>G	ENSP00000283871:p.Ile200Thr						p.I200T	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1058	-			200					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.599T>C	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968412|3.968412	0.74131|0.74131	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99259|.	-5.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Cupin, RmlC-type (1);|.	0.155094|.	0.56097|.	D|.	0.000028|.	T|T	0.80215|0.80215	0.4582|0.4582	M|M	0.89414|0.89414	3.03|3.03	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50443|.	0.935|.	D|.	0.71414|.	0.973|.	D|D	0.83610|0.83610	0.0133|0.0133	10|5	0.87932|.	D|.	0|.	-4.2769|-4.2769	13.9693|13.9693	0.64230|0.64230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q93099|.	HGD_HUMAN|.	T|P	200|44;7	ENSP00000283871:I200T|.	ENSP00000283871:I200T|.	I|S	-|-	2|1	0|0	HGD|HGD	121847854|121847854	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.763000|0.763000	0.43281|0.43281	8.353000|8.353000	0.90077|0.90077	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.478	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			61	306	0	0	0	1	0	61	306					G	120365164	A	G	120365164	3	3	79	1	0	0	0	0	1	0	0	0	7114	333	12	4	762	4	HGD	3	120365164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4653	120365164	77657266	4471	14788											
RABL3	285282	broad.mit.edu	37	chr3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatgttttaccatttaCggagttgtagaatactgctc	7	6	0	1	rs373639108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000483733.1_Missense_Mutation_p.V88I|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	88	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTACCATTTACGGAGTTGTAG	0.383																																						ENST00000273375.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17						c.(262-264)Gta>Ata		RAB, member of RAS oncogene family-like 3		C	ILE/VAL	0,4406		0,0,2203	83	82	82		262	3.9	1	3		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	RABL3	NM_173825.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	88/237	120428633	1,13005	2203	4300	6503	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120428633C>T	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.262G>A	3.37:g.120428633C>T	ENSP00000273375:p.Val88Ile					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.V88I	p.V88I	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	291	-			88			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.262G>A	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103688	0.08731	0.0	1.16E-4	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74526	-0.85;-0.85	5.72	3.94	0.45596	.	0.171115	0.50627	N	0.000107	T	0.42517	0.1206	N	0.02697	-0.525	0.42127	D	0.99145	B	0.12013	0.005	B	0.08055	0.003	T	0.12915	-1.0529	10	0.15952	T	0.53	-3.7258	2.9984	0.06005	0.1445:0.5599:0.1399:0.1558	.	88	Q5HYI8	RABL3_HUMAN	I	88	ENSP00000273375:V88I;ENSP00000419986:V88I	ENSP00000273375:V88I	V	-	1	0	RABL3	121911323	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.196000	0.42686	0.766000	0.33244	0.655000	0.94253	GTA		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		22	267	0	0	0	1	0	22	267					T	120428633	C	T	120428633	3	4	79	1	0	0	0	0	1	0	0	0	13022	536	19	1	472	1	RABL3	3	120428633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63469	120428633	77593797	4472	14789											
GTF2E1	2960	broad.mit.edu	37	chr3	120469705	120469705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtactcttgttaatgtGgtaaaatataaactggacca	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	102	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(304-306)gtG>gtA		general transcription factor IIE, polypeptide 1, alpha 56kDa							74	74	74					3																	120469705		2203	4300	6503	SO:0001819	synonymous_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469705G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.306G>A	3.37:g.120469705G>A							p.V102V	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	399	+			102			HTH TFE/IIEalpha-type.		Q16103	Silent	SNP	ENST00000283875.5	37	c.306G>A	CCDS3002.1																																																																																				0.413	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		56	281	0	0	0	1	0	56	281					A	120469705	G	A	120469705	2	1	79	1	0	0	0	0	0	0	0	1	6886	1335	47	2		2	GTF2E1	3	120469705	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41072	120469705	77552725	4473	14790											
GTF2E1	2960	broad.mit.edu	37	chr3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagcactgctcattcacgaGaaaaagacttcctctgccat	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	329					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TCATTCACGAGAAAAAGACTT	0.567																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(985-987)gaG>gaT		general transcription factor IIE, polypeptide 1, alpha 56kDa							74	76	76					3																	120499984		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120499984G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.987G>T	3.37:g.120499984G>T	ENSP00000283875:p.Glu329Asp						p.E329D	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1080	+			329					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.987G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779073	0.70107	.	.	ENSG00000153767	ENST00000283875	T	0.55413	0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.56958	D	0.05	0.0028	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	329	P29083	T2EA_HUMAN	D	329	ENSP00000283875:E329D	ENSP00000283875:E329D	E	+	3	2	GTF2E1	121982674	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.137000	0.71710	2.814000	0.96858	0.650000	0.86243	GAG		0.567	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		53	254	1	0	1.07234e-20	1	1.20343e-20	53	254					T	120499984	G	T	120499984	3	4	79	1	0	0	0	0	1	0	0	0	6886	933	33	3	1001	3	GTF2E1	3	120499984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30279	120499984	77522446	4474	14791											
STXBP5L	9515	broad.mit.edu	37	chr3	120941850	120941850	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttttttcctatgtagCgaaccattcataatattctc	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000472879.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	319					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTATGTAGCGAACCATTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.e11-1		syntaxin binding protein 5-like							134	124	127					3																	120941850		1861	4094	5955	SO:0001630	splice_region_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941850C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.957-1C>T	3.37:g.120941850C>T						STXBP5L_ENST00000471454.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000472879.1_Splice_Site_p.S319_splice	p.S319_splice	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1228	+			319					Q4G1B4|Q6PIC3	Splice_Site	SNP	ENST00000273666.6	37	c.956_splice	CCDS43137.1																																																																																				0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Silent	58	403	0	0	0	1	0	58	403					T	120941850	C	T	120941850	5	4	79	1	0	0	0	0	0	0	1	0	15409	782	27	1	995	1	STXBP5L	3	120941850	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441866	120941850	77080580	4475	14792											
STXBP5L	9515	broad.mit.edu	37	chr3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagtaacaaaggacaGtattccatgcctcaagtaag	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	606					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAAGGACAGTATTCCATGC	0.373																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1816-1818)aGt>aAt		syntaxin binding protein 5-like							94	90	91					3																	120976165		1837	4083	5920	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976165G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1817G>A	3.37:g.120976165G>A	ENSP00000273666:p.Ser606Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N	p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	2088	+			606					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1817G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978561	0.18812	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34275	2.04;2.04;1.84;1.37;1.85;2.04	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	N	0.25380	0.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72338	0.977;0.977	T	0.19451	-1.0305	10	0.16896	T	0.51	-20.4634	19.3771	0.94514	0.0:0.0:1.0:0.0	.	606;606	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	606	ENSP00000273666:S606N;ENSP00000420019:S606N;ENSP00000419627:S606N;ENSP00000420287:S606N;ENSP00000420666:S606N;ENSP00000420167:S606N	ENSP00000273666:S606N	S	+	2	0	STXBP5L	122458855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.514000	0.73746	2.647000	0.89833	0.460000	0.39030	AGT		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			103	416	0	0	0	1	0	103	416					A	120976165	G	A	120976165	3	1	79	1	0	0	0	0	1	0	0	0	15409	1029	36	2	1879	2	STXBP5L	3	120976165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34315	120976165	77046265	4476	14793											
STXBP5L	9515	broad.mit.edu	37	chr3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaattgtttttataggtAcattcctctcattgaaagga	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	888					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTATAGGTACATTCCTCTC	0.363																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2662-2664)Aca>Gca		syntaxin binding protein 5-like							53	51	52					3																	121126092		1843	4096	5939	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126092A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2662A>G	3.37:g.121126092A>G	ENSP00000273666:p.Thr888Ala					STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A	p.T888A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2933	+			888					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2662A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790740	0.31685	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.13	3.98	0.46160	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.164164	0.56097	D	0.000040	T	0.19886	0.0478	L	0.51853	1.615	0.40957	D	0.98459	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.07673	-1.0760	10	0.20046	T	0.44	-12.4704	6.2561	0.20874	0.7843:0.0:0.0748:0.1409	.	864;888	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	888;864;864;862;888;831	ENSP00000273666:T888A;ENSP00000420019:T864A;ENSP00000419627:T864A;ENSP00000420287:T862A;ENSP00000420666:T888A;ENSP00000420167:T831A	ENSP00000273666:T888A	T	+	1	0	STXBP5L	122608782	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.672000	0.54583	0.997000	0.38969	0.449000	0.29647	ACA		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			34	221	0	0	0	1	0	34	221					G	121126092	A	G	121126092	3	3	79	1	0	0	0	0	1	0	0	0	15409	391	14	4	2752	4	STXBP5L	3	121126092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149927	121126092	76896338	4477	14794											
STXBP5L	9515	broad.mit.edu	37	chr3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcttttatactgcaagCaaatgtggtggtcatgtgta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	983					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATACTGCAAGCAAATGTGGTG	0.403																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2947-2949)gCa>gTa		syntaxin binding protein 5-like							139	130	133					3																	121126378		1956	4162	6118	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126378C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2948C>T	3.37:g.121126378C>T	ENSP00000273666:p.Ala983Val					STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V	p.A983V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3219	+			983					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2948C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345014	0.95807	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.59906	1.82;1.33;1.33;1.33;1.33;0.23	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69335	-0.5172	10	0.21014	T	0.42	-19.0912	19.3769	0.94514	0.0:1.0:0.0:0.0	.	959;983	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	983;959;959;957;983;926	ENSP00000273666:A983V;ENSP00000420019:A959V;ENSP00000419627:A959V;ENSP00000420287:A957V;ENSP00000420666:A983V;ENSP00000420167:A926V	ENSP00000273666:A983V	A	+	2	0	STXBP5L	122609068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.660000	0.90430	0.650000	0.86243	GCA		0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	457	0	0	0	1	0	17	457					T	121126378	C	T	121126378	3	4	79	1	0	0	0	0	1	0	0	0	15409	710	25	2	3038	2	STXBP5L	3	121126378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286	121126378	76896052	4478	14795											
STXBP5L	9515	broad.mit.edu	37	chr3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacatgaggatagcaCgaacattttgttttaccaat	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1029					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGGATAGCACGAACATTTTG	0.383																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3085-3087)Cga>Tga		syntaxin binding protein 5-like							165	149	154					3																	121132069		1940	4137	6077	SO:0001587	stop_gained	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121132069C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3085C>T	3.37:g.121132069C>T	ENSP00000273666:p.Arg1029*					STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	p.R1029*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	25	3356	+			1029					Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	c.3085C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	39	7.524871	0.98339	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	.	.	.	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7142	16.6818	0.85294	0.1308:0.8692:0.0:0.0	.	.	.	.	X	1029;1005;972	.	ENSP00000273666:R1029X	R	+	1	2	STXBP5L	122614759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.153000	0.50685	1.549000	0.49425	0.591000	0.81541	CGA		0.383	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			80	344	0	0	0	1	0	80	344					T	121132069	C	T	121132069	4	4	79	1	0	0	0	0	0	1	0	0	15409	528	19	1	3179	1	STXBP5L	3	121132069	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5691	121132069	76890361	4479	14796											
STXBP5L	9515	broad.mit.edu	37	chr3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggataagaaatggtaccaAttctgacttctaaagaagct	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1185					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGGTACCAATTCTGACTTC	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3553-3555)caA>caC		syntaxin binding protein 5-like							135	128	130					3																	121137938		1827	4087	5914	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137938A>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3555A>C	3.37:g.121137938A>C	ENSP00000273666:p.Gln1185His					STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	p.Q1185H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	28	3826	+			1185					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3555A>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443462	0.63067	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.30714	1.52;1.53;1.57	5.84	2.25	0.28309	.	0.054083	0.85682	D	0.000000	T	0.51975	0.1706	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.50915	-0.8771	10	0.87932	D	0	-9.0245	6.5322	0.22334	0.4146:0.0:0.5854:0.0	.	1161;1185	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1185;1161;1128	ENSP00000273666:Q1185H;ENSP00000420019:Q1161H;ENSP00000420167:Q1128H	ENSP00000273666:Q1185H	Q	+	3	2	STXBP5L	122620628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.832000	0.48152	0.498000	0.27948	0.459000	0.35465	CAA		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			76	319	0	0	0	1	0	76	319					C	121137938	A	C	121137938	3	2	79	1	0	0	0	0	1	0	0	0	15409	98	4	4	3661	4	STXBP5L	3	121137938	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5869	121137938	76884492	4480	14797											
POLQ	10721	broad.mit.edu	37	chr3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaattcatccacaaccaCcattcctaaaaagattttcc	2	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(637-639)Gtg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							89	85	87					3																	121256050		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121256050C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.637G>A	3.37:g.121256050C>T	ENSP00000264233:p.Val213Met						p.V213M	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	5	765	-			213			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.637G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628850	0.67015	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.18338	2.22	4.92	4.92	0.64577	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180534	0.48286	D	0.000190	T	0.38295	0.1035	M	0.82132	2.575	0.47862	D	0.999533	D	0.55172	0.97	P	0.60415	0.874	T	0.18840	-1.0324	10	0.49607	T	0.09	.	11.5968	0.50979	0.0:0.9176:0.0:0.0824	.	213	O75417	DPOLQ_HUMAN	M	213;348	ENSP00000264233:V213M	ENSP00000264233:V213M	V	-	1	0	POLQ	122738740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.259000	0.74868	0.462000	0.41574	GTG		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		49	257	0	0	0	1	0	49	257					T	121256050	C	T	121256050	3	4	79	1	0	0	0	0	1	0	0	0	12250	507	18	2	7239	2	POLQ	3	121256050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118112	121256050	76766380	4481	14798											
POLQ	10721	broad.mit.edu	37	chr3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttattttcctctatgaggCgattgatcagaccattggct	8	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R333H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTATGAGGCGATTGATCAG	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(598-600)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							123	121	121					3																	121258312		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121258312C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.599G>A	3.37:g.121258312C>T	ENSP00000264233:p.Arg200His						p.R200H	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	4	727	-			200			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.599G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426896	0.96131	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.15603	2.41	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.141423	0.64402	D	0.000008	T	0.41994	0.1183	M	0.67700	2.07	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.08785	-1.0705	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	200	O75417	DPOLQ_HUMAN	H	200;335	ENSP00000264233:R200H	ENSP00000264233:R200H	R	-	2	0	POLQ	122741002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.738000	0.68613	2.828000	0.97474	0.655000	0.94253	CGC		0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		66	348	0	0	0	1	0	66	348					T	121258312	C	T	121258312	3	4	79	1	0	0	0	0	1	0	0	0	12250	768	27	1	7281	1	POLQ	3	121258312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2262	121258312	76764118	4482	14799											
FBXO40	51725	broad.mit.edu	37	chr3	121341856	121341856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaaaccatttccgtcCcccagggcaaaaggcaaaag	8	12	1	0	rs367937919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341856C>T	ENST00000338040.4	+	3	1994	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	527					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATTTCCGTCCCCCAGGGCAA	0.502																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1579-1581)cCc>cTc		F-box protein 40							55	53	54					3																	121341856		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341856C>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1580C>T	3.37:g.121341856C>T	ENSP00000337510:p.Pro527Leu						p.P527L	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1994	+			527					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1580C>T	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156510	0.78114	.	.	ENSG00000163833	ENST00000338040	T	0.55760	0.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76302	-0.3009	10	0.87932	D	0	-22.4823	17.913	0.88940	0.0:1.0:0.0:0.0	.	527	Q9UH90	FBX40_HUMAN	L	527	ENSP00000337510:P527L	ENSP00000337510:P527L	P	+	2	0	FBXO40	122824546	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CCC		0.502	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		48	206	0	0	0	1	0	48	206					T	121341856	C	T	121341856	3	4	79	1	0	0	0	0	1	0	0	0	5774	623	22	2	1586	2	FBXO40	3	121341856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83544	121341856	76680574	4483	14800											
FBXO40	51725	broad.mit.edu	37	chr3	121341875	121341875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggcaaaaggcaaaAgtaatctatagccaggagct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	533					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1597-1599)aaA>aaG		F-box protein 40							53	53	53					3																	121341875		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341875A>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1599A>G	3.37:g.121341875A>G							p.K533K	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2013	+			533					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1599A>G	CCDS33835.1																																																																																				0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		50	223	0	0	0	1	0	50	223					G	121341875	A	G	121341875	2	3	79	1	0	0	0	0	0	0	0	1	5774	69	3	4		4	FBXO40	3	121341875	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	121341875	76680555	4484	14801											
GOLGB1	2804	broad.mit.edu	37	chr3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatctgctcctcggccacaGagagagcattctcagcagcc	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000340645.5	-	20	9640	c.9515C>A	c.(9514-9516)tCt>tAt	p.S3172Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S3182Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3172					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCGGCCACAGAGAGAGCATT	0.498																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(9544-9546)tCt>tAt		golgin B1							99	90	93					3																	121386347		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121386347G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9515C>A	3.37:g.121386347G>T	ENSP00000341848:p.Ser3172Tyr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S3172Y	p.S3182Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	20	9655	-			3172					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.9545C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937865	0.34189	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	T	0.24699	0.0599	L	0.27053	0.805	0.30771	N	0.742987	D;D;P	0.60575	0.988;0.988;0.496	P;P;B	0.58331	0.837;0.837;0.261	T	0.02588	-1.1137	10	0.66056	D	0.02	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	3182;3182;3172	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	3172;3182	ENSP00000341848:S3172Y;ENSP00000377275:S3182Y	ENSP00000341848:S3172Y	S	-	2	0	GOLGB1	122869037	0.029000	0.19370	0.245000	0.24217	0.249000	0.25844	0.946000	0.29069	2.740000	0.93945	0.650000	0.86243	TCT		0.498	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		83	329	1	0	4.03997e-35	1	4.81766e-35	83	329					T	121386347	G	T	121386347	3	4	79	1	0	0	0	0	1	0	0	0	6594	942	33	3	276	3	GOLGB1	3	121386347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44472	121386347	76636083	4485	14802											
GOLGB1	2804	broad.mit.edu	37	chr3	121400548	121400548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtacctgagctgatgcagCtcatgctgccaggagaggtt	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000340645.5	-	15	8969	c.8844G>A	c.(8842-8844)gaG>gaA	p.E2948E	GOLGB1_ENST00000393667.3_Silent_p.E2953E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2948					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGATGCAGCTCATGCTGCC	0.373																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8857-8859)gaG>gaA		golgin B1							164	153	157					3																	121400548		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121400548C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8844G>A	3.37:g.121400548C>T						GOLGB1_ENST00000340645.5_Silent_p.E2948E	p.E2953E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	15	8969	-			2948					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.8859G>A	CCDS3004.1																																																																																				0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		110	500	0	0	0	1	0	110	500					T	121400548	C	T	121400548	2	4	79	1	0	0	0	0	0	0	0	1	6594	796	28	2		2	GOLGB1	3	121400548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14201	121400548	76621882	4486	14803											
GOLGB1	2804	broad.mit.edu	37	chr3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatctctttagataaaTcttgtttctcttcttgtagg	5	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000340645.5	-	14	7921	c.7796A>C	c.(7795-7797)gAt>gCt	p.D2599A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2604A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2599					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGATAAATCTTGTTTCTC	0.373																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7810-7812)gAt>gCt		golgin B1							78	81	80					3																	121410400		2202	4300	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410400T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7796A>C	3.37:g.121410400T>G	ENSP00000341848:p.Asp2599Ala					GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2599A	p.D2604A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7921	-			2599					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7811A>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832790	0.02713	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.25	-1.15	0.09709	.	0.970057	0.08526	N	0.932793	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.01	B;B;B	0.16289	0.006;0.015;0.006	T	0.43798	-0.9369	10	0.13108	T	0.6	.	1.989	0.03442	0.1214:0.398:0.239:0.2416	.	2604;2604;2599	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2599;2604	ENSP00000341848:D2599A;ENSP00000377275:D2604A	ENSP00000341848:D2599A	D	-	2	0	GOLGB1	122893090	0.000000	0.05858	0.562000	0.28370	0.588000	0.36517	0.043000	0.13971	0.061000	0.16311	-0.242000	0.12053	GAT		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		77	328	0	0	0	1	0	77	328					G	121410400	T	G	121410400	3	3	79	1	0	0	0	0	1	0	0	0	6594	1435	50	4	2019	4	GOLGB1	3	121410400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9852	121410400	76612030	4487	14804											
GOLGB1	2804	broad.mit.edu	37	chr3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctttctcagacattaaaGactgaaacttcttagaaagg	7	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000340645.5	-	13	5356	c.5231C>A	c.(5230-5232)tCt>tAt	p.S1744Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1749Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1744					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S1744C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGACATTAAAGACTGAAACTT	0.383																																						ENST00000393667.3																			1	Substitution - Missense(1)	p.S1744C(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5245-5247)tCt>tAt		golgin B1							112	109	110					3																	121414124		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414124G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5231C>A	3.37:g.121414124G>T	ENSP00000341848:p.Ser1744Tyr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1744Y	p.S1749Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5356	-			1744					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5246C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864786	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.45	5.62	0.644	0.17776	.	0.851473	0.10173	N	0.706812	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	P;P;P;B	0.38711	0.643;0.643;0.643;0.4	B;B;B;B	0.34301	0.179;0.179;0.179;0.169	T	0.24154	-1.0168	10	0.62326	D	0.03	.	1.697	0.02864	0.1462:0.2559:0.3346:0.2633	.	1669;1749;1749;1744	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Y	1744;1749	ENSP00000341848:S1744Y;ENSP00000377275:S1749Y	ENSP00000341848:S1744Y	S	-	2	0	GOLGB1	122896814	0.004000	0.15560	0.023000	0.16930	0.006000	0.05464	0.999000	0.29757	-0.175000	0.10725	-0.309000	0.09137	TCT		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		25	513	1	0	2.98393e-07	1	3.0958e-07	25	513					T	121414124	G	T	121414124	3	4	79	1	0	0	0	0	1	0	0	0	6594	942	33	3	4588	3	GOLGB1	3	121414124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	121414124	76608306	4488	14805											
GOLGB1	2804	broad.mit.edu	37	chr3	121414270	121414270	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgccctaagccggtcattCtcttcttccagctctaggat	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000340645.5	-	13	5210	c.5085G>A	c.(5083-5085)gaG>gaA	p.E1695E	GOLGB1_ENST00000393667.3_Silent_p.E1700E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1695					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCGGTCATTCTCTTCTTCCA	0.438																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5098-5100)gaG>gaA		golgin B1							234	236	235					3																	121414270		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414270C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5085G>A	3.37:g.121414270C>T						GOLGB1_ENST00000340645.5_Silent_p.E1695E	p.E1700E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5210	-			1695					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.5100G>A	CCDS3004.1																																																																																				0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		187	936	0	0	0	1	0	187	936					T	121414270	C	T	121414270	2	4	79	1	0	0	0	0	0	0	0	1	6594	912	32	2		2	GOLGB1	3	121414270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	121414270	76608160	4489	14806											
GOLGB1	2804	broad.mit.edu	37	chr3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaccaatatctggtacaGcagaaagggatttatcacca	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000340645.5	-	13	2146	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A679V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	674					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTGGTACAGCAGAAAGGGA	0.363																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(2035-2037)gCt>gTt		golgin B1							78	80	79					3																	121417334		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417334G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2021C>T	3.37:g.121417334G>A	ENSP00000341848:p.Ala674Val					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A674V	p.A679V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2146	-			674					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2036C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458457	0.12342	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23552	2.49;2.49;1.9	4.36	-0.732	0.11147	.	0.415295	0.22857	N	0.054782	T	0.14485	0.0350	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.0	B;B;B;B;B	0.13407	0.002;0.009;0.002;0.007;0.002	T	0.13872	-1.0493	10	0.31617	T	0.26	.	3.3697	0.07216	0.2961:0.0:0.3445:0.3594	.	599;638;679;679;674	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	674;679;638;486	ENSP00000341848:A674V;ENSP00000377275:A679V;ENSP00000418231:A638V	ENSP00000341848:A674V	A	-	2	0	GOLGB1	122900024	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.123000	0.15708	-0.039000	0.13602	0.655000	0.94253	GCT		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		33	367	0	0	0	1	0	33	367					A	121417334	G	A	121417334	3	1	79	1	0	0	0	0	1	0	0	0	6594	971	34	2	7798	2	GOLGB1	3	121417334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3064	121417334	76605096	4490	14807											
IQCB1	9657	broad.mit.edu	37	chr3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagatgggcctgcttgGccttggctgccacaggcctg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1645-1647)gCc>gTc		IQ motif containing B1							181	174	176					3																	121489343		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489343G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1646C>T	3.37:g.121489343G>A	ENSP00000311505:p.Ala549Val					IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	p.A549V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1860	-			549					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1646C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC		0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		172	822	0	0	0	1	0	172	822					A	121489343	G	A	121489343	3	1	79	1	0	0	0	0	1	0	0	0	7833	1203	42	2	154	2	IQCB1	3	121489343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72009	121489343	76533087	4491	14808											
IQCB1	9657	broad.mit.edu	37	chr3	121509063	121509063	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatctttgatcgtttggatCtgtgatggaaacagtgtgtt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1						cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGTTTGGATCTGTGATGGAA	0.318																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.e11-1		IQ motif containing B1							195	184	188					3																	121509063		2203	4300	6503	SO:0001630	splice_region_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121509063C>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.987-1G>T	3.37:g.121509063C>A						IQCB1_ENST00000349820.6_Splice_Site		NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	11	1201	-								Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Splice_Site	SNP	ENST00000310864.6	37		CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667687	0.47677	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0225	0.64565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCB1	122991753	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.337000	0.52120	2.757000	0.94681	0.650000	0.86243	.		0.318	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	Intron	148	666	1	0	3.45299e-71	1	4.38936e-71	148	666					A	121509063	C	A	121509063	5	1	79	1	0	0	0	0	0	0	1	0	7833	927	32	3	830	3	IQCB1	3	121509063	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19720	121509063	76513367	4492	14809											
CD86	942	broad.mit.edu	37	chr3	121810499	121810499	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggccttcctgctctctggTaagaacctttcagctttgtt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000469710.1_Intron|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000264468.5_Splice_Site	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule						aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGCTCTCTGGTAAGAACCTTT	0.438																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.e2+2		CD86 molecule	Abatacept(DB01281)						281	268	273					3																	121810499		2203	4300	6503	SO:0001630	splice_region_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121810499T>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.64+2T>C	3.37:g.121810499T>C						CD86_ENST00000469710.1_Intron|CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000393627.2_Splice_Site		NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	180	+								A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Splice_Site	SNP	ENST00000330540.2	37		CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831086	0.16820	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627;ENST00000478741	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3554	0.43960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD86	123293189	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.066000	0.50002	2.216000	0.71823	0.533000	0.62120	.		0.438	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	Intron	258	1133	0	0	0	1	0	258	1133					C	121810499	T	C	121810499	5	2	79	1	0	0	0	0	0	0	1	0	3052	1652	57	4	72	4	CD86	3	121810499	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301436	121810499	76211931	4493	14810											
CASR	846	broad.mit.edu	37	chr3	121980530	121980530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaattgcagctgatgaCgactatgggcggccggggat	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000498619.1_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537																																						ENST00000498619.1																			1	Substitution - coding silent(1)	p.D216D(1)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(646-648)gaC>gaT		calcium-sensing receptor	Cinacalcet(DB01012)						125	134	131					3																	121980530		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980530C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.648C>T	3.37:g.121980530C>T						CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000490131.1_Silent_p.D216D	p.D216D	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1086	+			216					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.648C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		164	718	0	0	0	1	0	164	718					T	121980530	C	T	121980530	2	4	79	1	0	0	0	0	0	0	0	1	2689	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	121980530	76041900	4494	14811											
CASR	846	broad.mit.edu	37	chr3	121980656	121980656	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccagcatgtggtagaggtGattcaaaattccacggccaa	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000490131.1	+	4	1146	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000498619.1_Silent_p.V258V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	258					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(772-774)gtG>gtA		calcium-sensing receptor	Cinacalcet(DB01012)						123	133	130					3																	121980656		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980656G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.774G>A	3.37:g.121980656G>A						CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000490131.1_Silent_p.V258V	p.V258V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1212	+			258					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.774G>A	CCDS3010.1																																																																																				0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		192	730	0	0	0	1	0	192	730					A	121980656	G	A	121980656	2	1	79	1	0	0	0	0	0	0	0	1	2689	1277	45	2		2	CASR	3	121980656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	121980656	76041774	4495	14812											
CASR	846	broad.mit.edu	37	chr3	122002644	122002644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggagccctttgggatcGcactcaccctctttgccgtg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002644G>A	ENST00000490131.1	+	7	2215	c.1843G>A	c.(1843-1845)Gca>Aca	p.A615T	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.A615T|CASR_ENST00000498619.1_Missense_Mutation_p.A625T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	615					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGGATCGCACTCACCCT	0.537																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1873-1875)Gca>Aca		calcium-sensing receptor	Cinacalcet(DB01012)						171	133	146					3																	122002644		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002644G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1843G>A	3.37:g.122002644G>A	ENSP00000418685:p.Ala615Thr					CASR_ENST00000296154.5_Missense_Mutation_p.A615T|CASR_ENST00000490131.1_Missense_Mutation_p.A615T	p.A625T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2311	+			615					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1873G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219855	0.09863	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89343	-2.5;-2.49;-2.5	5.91	5.91	0.95273	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	L	0.35542	1.07	0.58432	D	0.999998	D;P	0.89917	1.0;0.9	D;B	0.79784	0.993;0.167	D	0.85965	0.1473	10	0.10377	T	0.69	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	625;615	E7ENE0;P41180	.;CASR_HUMAN	T	615;625;615	ENSP00000418685:A615T;ENSP00000420194:A625T;ENSP00000296154:A615T	ENSP00000296154:A615T	A	+	1	0	CASR	123485334	1.000000	0.71417	0.949000	0.38748	0.753000	0.42808	6.632000	0.74281	2.804000	0.96469	0.462000	0.41574	GCA		0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		56	285	0	0	0	1	0	56	285					A	122002644	G	A	122002644	3	1	79	1	0	0	0	0	1	0	0	0	2689	1087	38	1	1895	1	CASR	3	122002644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21988	122002644	76019786	4496	14813											
CASR	846	broad.mit.edu	37	chr3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttgaggccaagatccCcaccagcttccaccgcaagt	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000490131.1	+	7	2504	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.P711L|CASR_ENST00000498619.1_Missense_Mutation_p.P721L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	711					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2161-2163)cCc>cTc		calcium-sensing receptor	Cinacalcet(DB01012)						63	57	59					3																	122002933		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002933C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2132C>T	3.37:g.122002933C>T	ENSP00000418685:p.Pro711Leu					CASR_ENST00000296154.5_Missense_Mutation_p.P711L|CASR_ENST00000490131.1_Missense_Mutation_p.P711L	p.P721L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2600	+			711					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2162C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373344	0.82573	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	721;711	E7ENE0;P41180	.;CASR_HUMAN	L	711;721;711	ENSP00000418685:P711L;ENSP00000420194:P721L;ENSP00000296154:P711L	ENSP00000296154:P711L	P	+	2	0	CASR	123485623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		0.572	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		66	289	0	0	0	1	0	66	289					T	122002933	C	T	122002933	3	4	79	1	0	0	0	0	1	0	0	0	2689	623	22	2	2184	2	CASR	3	122002933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289	122002933	76019497	4497	14814											
CASR	846	broad.mit.edu	37	chr3	122003168	122003168	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggctgccatctgcttcttCtttgccttcaagtcccggaa	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000490131.1	+	7	2739	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.F789F|CASR_ENST00000498619.1_Silent_p.F799F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	789					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTTCTTCTTTGCCTTCA	0.537																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2395-2397)ttC>ttT		calcium-sensing receptor	Cinacalcet(DB01012)						44	43	43					3																	122003168		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003168C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2367C>T	3.37:g.122003168C>T						CASR_ENST00000296154.5_Silent_p.F789F|CASR_ENST00000490131.1_Silent_p.F789F	p.F799F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2835	+			789					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2397C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		12	239	0	0	0	1	0	12	239					T	122003168	C	T	122003168	2	4	79	1	0	0	0	0	0	0	0	1	2689	912	32	2		2	CASR	3	122003168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	122003168	76019262	4498	14815											
FAM162A	26355	broad.mit.edu	37	chr3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgcaaagaacaagatgcGagtgaagatcagctatctaa	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000477892.1	+	4	383	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q|FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(298-300)cGa>cAa		family with sequence similarity 162, member A							174	169	171					3																	122126163		1964	4167	6131	SO:0001583	missense	26355					integral to membrane		g.chr3:122126163G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.299G>A	3.37:g.122126163G>A	ENSP00000419088:p.Arg100Gln					FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	p.R100Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			4	383	+			100					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.299G>A	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378827	0.61735	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89095	3.005	0.41776	D	0.989797	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.82564	-0.0394	10	0.72032	D	0.01	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	100;100	E9PH05;Q96A26	.;F162A_HUMAN	Q	90;100;100;99	ENSP00000232125:R90Q;ENSP00000419088:R100Q;ENSP00000419491:R100Q	ENSP00000232125:R90Q	R	+	2	0	FAM162A	123608853	0.996000	0.38824	0.797000	0.32132	0.005000	0.04900	6.467000	0.73547	2.880000	0.98712	0.650000	0.86243	CGA		0.423	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		26	256	0	0	0	1	0	26	256					A	122126163	G	A	122126163	3	1	79	1	0	0	0	0	1	0	0	0	5495	1058	37	1	313	1	FAM162A	3	122126163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122995	122126163	75896267	4499	14816											
WDR5B	54554	broad.mit.edu	37	chr3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctagccattctccattaGgactaaacttaactgatgac	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(151-153)cCt>cAt		WD repeat domain 5B							195	191	192					3																	122134224		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134224G>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.152C>A	3.37:g.122134224G>T	ENSP00000330381:p.Pro51His						p.P51H	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	658	-			51					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.152C>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934146	0.52866	.	.	ENSG00000196981	ENST00000330689	T	0.70516	-0.49	4.78	3.89	0.44902	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	0.70657	0.3249	M	0.78456	2.415	0.80722	D	1	P	0.40180	0.705	B	0.38921	0.285	T	0.75528	-0.3286	10	0.72032	D	0.01	.	12.3839	0.55322	0.0:0.0:0.8302:0.1698	.	51	Q86VZ2	WDR5B_HUMAN	H	51	ENSP00000330381:P51H	ENSP00000330381:P51H	P	-	2	0	WDR5B	123616914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.334000	0.90028	1.354000	0.45846	-0.311000	0.09066	CCT		0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		185	923	1	0	1.73262e-47	1	2.13312e-47	185	923					T	122134224	G	T	122134224	3	4	79	1	0	0	0	0	1	0	0	0	17363	1000	35	3	844	3	WDR5B	3	122134224	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8061	122134224	75888206	4500	14817											
PARP9	83666	broad.mit.edu	37	chr3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactctatcctaggagtcaGcatttttctgaacacttgca	6	10	3	1	rs368788105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000360356.2	-	4	567	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000462315.1_Missense_Mutation_p.L79M|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	114	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTAGGAGTCAGCATTTTTCTG	0.473																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(235-237)Ctg>Atg		poly (ADP-ribose) polymerase family, member 9							96	83	87					3																	122274783		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274783G>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.340C>A	3.37:g.122274783G>T	ENSP00000353512:p.Leu114Met					PARP9_ENST00000360356.2_Missense_Mutation_p.L114M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000477522.2_Missense_Mutation_p.L79M	p.L79M	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	528	-			114					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.235C>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522233	0.44866	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.4	4.45	0.53987	Appr-1-p processing (1);	0.000000	0.42420	D	0.000709	T	0.49064	0.1535	M	0.85630	2.765	0.48632	D	0.999689	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.77004	0.957;0.988;0.989	T	0.49399	-0.8944	10	0.51188	T	0.08	.	6.7817	0.23650	0.15:0.0:0.85:0.0	.	79;114;79	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	M	114;79;79;37;79;92	ENSP00000353512:L114M;ENSP00000419506:L79M;ENSP00000419001:L79M;ENSP00000418894:L79M;ENSP00000419626:L92M	ENSP00000353512:L114M	L	-	1	2	PARP9	123757473	0.895000	0.30542	0.532000	0.27989	0.141000	0.21300	1.443000	0.35057	2.818000	0.97014	0.655000	0.94253	CTG		0.473	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		49	178	1	0	4.18559e-23	1	4.75231e-23	49	178					T	122274783	G	T	122274783	3	4	79	1	0	0	0	0	1	0	0	0	11508	962	34	3	2309	3	PARP9	3	122274783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140559	122274783	75747647	4501	14818											
DTX3L	151636	broad.mit.edu	37	chr3	122288313	122288313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttactgaagtctttgggCaaggagagaaagcacttaca	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000296161.4	+	3	1566	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	459					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1375-1377)ggC>ggT		deltex 3-like (Drosophila)							144	135	138					3																	122288313		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288313C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1377C>T	3.37:g.122288313C>T						DTX3L_ENST00000383661.3_Intron	p.G459G	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1566	+			459					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1377C>T	CCDS3015.1																																																																																				0.388	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		105	530	0	0	0	1	0	105	530					T	122288313	C	T	122288313	2	4	79	1	0	0	0	0	0	0	0	1	4812	697	25	2		2	DTX3L	3	122288313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13530	122288313	75734117	4502	14819											
PARP15	165631	broad.mit.edu	37	chr3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaataatgagagactcctcTtccatgggacagatgcagac	10	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000464300.2	+	11	1738	c.1672T>G	c.(1672-1674)Ttc>Gtc	p.F558V	PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000483793.1_Missense_Mutation_p.F363V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	558	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GAGACTCCTCTTCCATGGGAC	0.418																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1087-1089)Ttc>Gtc		poly (ADP-ribose) polymerase family, member 15							88	79	82					3																	122353966		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122353966T>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1672T>G	3.37:g.122353966T>G	ENSP00000417214:p.Phe558Val					PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000464300.2_Missense_Mutation_p.F558V|PARP15_ENST00000310366.4_Missense_Mutation_p.F324V	p.F363V			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1127	+			536			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1087T>G	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128775	0.77549	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.83	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.62660	0.2446	H	0.97103	3.94	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.989;0.999;0.998	T	0.74592	-0.3614	9	0.87932	D	0	.	11.5636	0.50792	0.0:0.0:0.0:1.0	.	255;324;305;363;536	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	V	558;363;305;324;255	ENSP00000417214:F558V;ENSP00000417785:F363V;ENSP00000308436:F324V;ENSP00000419488:F255V	ENSP00000308436:F324V	F	+	1	0	PARP15	123836656	1.000000	0.71417	0.924000	0.36721	0.989000	0.77384	7.617000	0.83032	1.609000	0.50190	0.533000	0.62120	TTC		0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		59	230	0	0	0	1	0	59	230					G	122353966	T	G	122353966	3	3	79	1	0	0	0	0	1	0	0	0	11501	1609	56	4	1783	4	PARP15	3	122353966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65653	122353966	75668464	4503	14820											
PARP14	54625	broad.mit.edu	37	chr3	122405935	122405935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgtgtttcaggaatccaaGaccaaagaagatgttaaaga	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGAATCCAAGACCAAAGAAG	0.378																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(328-330)aaG>aaA		poly (ADP-ribose) polymerase family, member 14							92	86	88					3																	122405935		1863	4109	5972	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122405935G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.330G>A	3.37:g.122405935G>A							p.K110K	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	3	596	+			110					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.330G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849109	0.02651	.	.	ENSG00000173193	ENST00000494811	.	.	.	5.05	2.18	0.27775	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	3.4574	0.07521	0.0919:0.1566:0.5622:0.1894	.	.	.	.	N	119	.	.	D	+	1	0	PARP14	123888625	0.394000	0.25246	0.033000	0.17914	0.408000	0.30992	0.663000	0.25053	0.267000	0.21916	0.561000	0.74099	GAC		0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		5	51	0	0	0	1	0	5	51					A	122405935	G	A	122405935	2	1	79	1	0	0	0	0	0	0	0	1	11500	933	33	2		2	PARP14	3	122405935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51969	122405935	75616495	4504	14821											
PARP14	54625	broad.mit.edu	37	chr3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcctgtctaatgatgActttcaagtggaaataataa	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCTAATGATGACTTTCAAGTG	0.373																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(535-537)gAc>gCc		poly (ADP-ribose) polymerase family, member 14							154	147	150					3																	122411328		1876	4108	5984	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122411328A>C	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.536A>C	3.37:g.122411328A>C	ENSP00000418194:p.Asp179Ala						p.D179A	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	4	802	+			179					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.536A>C	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563013	0.27915	.	.	ENSG00000173193	ENST00000474629	T	0.71934	-0.61	5.5	5.5	0.81552	.	.	.	.	.	T	0.70535	0.3235	M	0.70275	2.135	0.45261	D	0.998264	B	0.20887	0.049	B	0.19666	0.026	T	0.69239	-0.5197	9	0.54805	T	0.06	.	14.5787	0.68271	1.0:0.0:0.0:0.0	.	179	Q460N5	PAR14_HUMAN	A	179	ENSP00000418194:D179A	ENSP00000420649:D20A	D	+	2	0	PARP14	123894018	0.999000	0.42202	0.595000	0.28798	0.005000	0.04900	3.070000	0.50033	2.308000	0.77769	0.533000	0.62120	GAC		0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		38	136	0	0	0	1	0	38	136					C	122411328	A	C	122411328	3	2	79	1	0	0	0	0	1	0	0	0	11500	275	10	4	550	4	PARP14	3	122411328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5393	122411328	75611102	4505	14822											
PARP14	54625	broad.mit.edu	37	chr3	122420074	122420074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagcggatatgaggccccGaggtgtgtgtacctattaag	15	7	0	1	rs369759529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	891	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGAGGCCCCGAGGTGTGTGT	0.552																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2671-2673)ccG>ccA		poly (ADP-ribose) polymerase family, member 14		G		0,3864		0,0,1932	38	36	37		2673	0.1	0	3		37	1,8257		0,1,4128	no	coding-synonymous	PARP14	NM_017554.2		0,1,6060	AA,AG,GG		0.0121,0.0,0.0082		891/1802	122420074	1,12121	1932	4129	6061	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420074G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2673G>A	3.37:g.122420074G>A							p.P891P	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2939	+			891			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.2673G>A	CCDS46894.1																																																																																				0.552	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		21	97	0	0	0	1	0	21	97					A	122420074	G	A	122420074	2	1	79	1	0	0	0	0	0	0	0	1	11500	1045	37	1		1	PARP14	3	122420074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8746	122420074	75602356	4506	14823											
PARP14	54625	broad.mit.edu	37	chr3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaatctggactgtcGctatgtgcttcacgtggtag	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1087	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGGACTGTCGCTATGTGCTT	0.537																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3259-3261)cGc>cAc		poly (ADP-ribose) polymerase family, member 14							147	152	150					3																	122422767		2064	4198	6262	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122422767G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3260G>A	3.37:g.122422767G>A	ENSP00000418194:p.Arg1087His						p.R1087H	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	3526	+			1087			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.3260G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292300	0.40594	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24350	1.86	5.71	-8.83	0.00806	Appr-1-p processing (3);	3.195390	0.00424	N	0.000074	T	0.28067	0.0692	M	0.75884	2.315	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	10	0.49607	T	0.09	.	10.8773	0.46919	0.2551:0.2042:0.5407:0.0	.	1087;1087	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1087;1006;83	ENSP00000418194:R1087H	ENSP00000381224:R83H	R	+	2	0	PARP14	123905457	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-1.404000	0.02050	-0.793000	0.03317	CGC		0.537	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		109	434	0	0	0	1	0	109	434					A	122422767	G	A	122422767	3	1	79	1	0	0	0	0	1	0	0	0	11500	1087	38	1	3286	1	PARP14	3	122422767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2693	122422767	75599663	4507	14824											
PARP14	54625	broad.mit.edu	37	chr3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaaaaactatggatgCcaagaatggccagacaatga	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1669	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACTATGGATGCCAAGAATGGC	0.453																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5005-5007)gCc>gTc		poly (ADP-ribose) polymerase family, member 14							62	63	62					3																	122446723		1909	4128	6037	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446723C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5006C>T	3.37:g.122446723C>T	ENSP00000418194:p.Ala1669Val						p.A1669V	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5272	+			1669			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5006C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160607	0.38119	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10477	2.87	5.69	0.605	0.17553	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.769194	0.11796	N	0.528684	T	0.09423	0.0232	L	0.60845	1.875	0.09310	N	1	P	0.36183	0.542	B	0.24006	0.05	T	0.20672	-1.0268	10	0.30078	T	0.28	.	10.1445	0.42755	0.6142:0.3129:0.0:0.0729	.	1669	Q460N5	PAR14_HUMAN	V	1669;1588;665	ENSP00000418194:A1669V	ENSP00000381224:A665V	A	+	2	0	PARP14	123929413	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-1.492000	0.02300	0.159000	0.19401	0.655000	0.94253	GCC		0.453	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		38	147	0	0	0	1	0	38	147					T	122446723	C	T	122446723	3	4	79	1	0	0	0	0	1	0	0	0	11500	739	26	2	5068	2	PARP14	3	122446723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23956	122446723	75575707	4508	14825											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459627	122459627	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatctgttctcagtgcttgGatttctactacctcagatgt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	344						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1030-1032)atC>atA		HSPB (heat shock 27kDa) associated protein 1							173	163	166					3																	122459627		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459627G>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1032C>A	3.37:g.122459627G>T						HSPBAP1_ENST00000383659.1_3'UTR	p.I344I	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1175	-			344					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1032C>A	CCDS3017.1																																																																																				0.448	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		148	703	1	0	7.55372e-74	1	9.62008e-74	148	703					T	122459627	G	T	122459627	2	4	79	1	0	0	0	0	0	0	0	1	7455	1164	41	3		3	HSPBAP1	3	122459627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12904	122459627	75562803	4509	14826											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgatcaaaaaatgcagaaAcagctgcatttaagtagcaa	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	329						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AAATGCAGAAACAGCTGCATT	0.388																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(985-987)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							107	103	104					3																	122459673		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459673A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.986T>G	3.37:g.122459673A>C	ENSP00000302562:p.Val329Gly					HSPBAP1_ENST00000383659.1_3'UTR	p.V329G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1129	-			329					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.986T>G	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907393	0.72868	.	.	ENSG00000169087	ENST00000306103	T	0.41758	0.99	5.38	5.38	0.77491	Cupin, JmjC-type (1);	0.694163	0.14446	N	0.319061	T	0.54431	0.1858	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.52267	0.694	T	0.57464	-0.7807	10	0.87932	D	0	.	13.2584	0.60091	1.0:0.0:0.0:0.0	.	329	Q96EW2	HBAP1_HUMAN	G	329	ENSP00000302562:V329G	ENSP00000302562:V329G	V	-	2	0	HSPBAP1	123942363	0.983000	0.35010	0.092000	0.20876	0.984000	0.73092	3.869000	0.56062	2.264000	0.75181	0.533000	0.62120	GTT		0.388	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		23	577	0	0	0	1	0	23	577					C	122459673	A	C	122459673	3	2	79	1	0	0	0	0	1	0	0	0	7455	43	2	4	484	4	HSPBAP1	3	122459673	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46	122459673	75562757	4510	14827											
HSPBAP1	79663	broad.mit.edu	37	chr3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttaaatcaggattgacaAcattgattttactgaacaca	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(664-666)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							92	84	87					3																	122474183		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122474183A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.665T>G	3.37:g.122474183A>C	ENSP00000302562:p.Val222Gly					HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	p.V222G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	5	808	-			222			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.665T>G	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576601	0.86645	.	.	ENSG00000169087	ENST00000306103	T	0.25749	1.78	5.24	5.24	0.73138	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.056069	0.64402	D	0.000001	T	0.51907	0.1702	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56251	-0.8010	10	0.59425	D	0.04	.	14.3887	0.66963	1.0:0.0:0.0:0.0	.	222	Q96EW2	HBAP1_HUMAN	G	222	ENSP00000302562:V222G	ENSP00000302562:V222G	V	-	2	0	HSPBAP1	123956873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.569000	0.90744	1.994000	0.58287	0.473000	0.43528	GTT		0.393	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		25	258	0	0	0	1	0	25	258					C	122474183	A	C	122474183	3	2	79	1	0	0	0	0	1	0	0	0	7455	43	2	4	817	4	HSPBAP1	3	122474183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14510	122474183	75548247	4511	14828											
SEMA5B	54437	broad.mit.edu	37	chr3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcccttgtagtgcaaaTggttgggggtggcaggatgg	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1079					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAGTGCAAATGGTTGGGGGT	0.532																																						ENST00000357599.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(3235-3237)cAt>cGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							94	91	92					3																	122629748		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629748T>C	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3236A>G	3.37:g.122629748T>C	ENSP00000350215:p.His1079Arg					SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	p.H1079R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3622	-			1079					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.3236A>G	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.088454|4.088454	0.76756|0.76756	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541	T;T;T|.	0.33865|.	1.39;1.45;1.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.59357|.	0.982;0.985|.	P;P|.	0.59889|.	0.865;0.84|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.15066|.	T|.	0.55|.	.|.	13.7969|13.7969	0.63177|0.63177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	985;1079|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	R|V	1079;985;1133;1079|125	ENSP00000350215:H1079R;ENSP00000389588:H1133R;ENSP00000377208:H1079R|.	ENSP00000350215:H1079R|.	H|I	-|-	2|1	0|0	SEMA5B|SEMA5B	124112438|124112438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.309000|7.309000	0.78937|0.78937	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.532	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		32	403	0	0	0	1	0	32	403					C	122629748	T	C	122629748	3	2	79	1	0	0	0	0	1	0	0	0	14088	1464	51	4	227	4	SEMA5B	3	122629748	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155565	122629748	75392682	4512	14829											
SEMA5B	54437	broad.mit.edu	37	chr3	122631763	122631763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcccccgttgcggggCtccgggttagtgcacgttct	16	13	1	0	rs370662105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000357599.3	-	18	3038	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_ENST00000195173.4_Silent_p.E883E|SEMA5B_ENST00000451055.2_Silent_p.E938E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	884	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTTGCGGGGCTCCGGGTTAG	0.706																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2647-2649)gaG>gaA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		C		0,4402		0,0,2201	35	44	41		2652	5	1	3		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		884/1152	122631763	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631763C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2652G>A	3.37:g.122631763C>T						SEMA5B_ENST00000357599.3_Silent_p.E884E|SEMA5B_ENST00000451055.2_Silent_p.E938E	p.E883E			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	18	2952	-			884			TSP type-1 3.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.2649G>A	CCDS35491.1																																																																																				0.706	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		88	348	0	0	0	1	0	88	348					T	122631763	C	T	122631763	2	4	79	1	0	0	0	0	0	0	0	1	14088	796	28	2		2	SEMA5B	3	122631763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	122631763	75390667	4513	14830											
SEMA5B	54437	broad.mit.edu	37	chr3	122632714	122632714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctcaccgttcctccCggctcttgcccacgcagatg	7	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122632714C>T	ENST00000357599.3	-	15	2509	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	708	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCGTTCCTCCCGGCTCTTGCC	0.662																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2122-2124)cGg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							52	56	55					3																	122632714		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632714C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2123G>A	3.37:g.122632714C>T	ENSP00000350215:p.Arg708Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q	p.R708Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	15	2426	-			708			TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2123G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001554	0.93227	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.37507	1.11	0.58432	D	0.999997	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.68353	0.897;0.937;0.957	T	0.55872	-0.8072	10	0.39692	T	0.17	.	17.513	0.87765	0.0:1.0:0.0:0.0	.	650;708;708	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	708;708;650;762;708	ENSP00000350215:R708Q;ENSP00000195173:R708Q;ENSP00000389588:R762Q;ENSP00000377208:R708Q	ENSP00000195173:R708Q	R	-	2	0	SEMA5B	124115404	1.000000	0.71417	0.994000	0.49952	0.855000	0.48748	7.633000	0.83260	2.614000	0.88457	0.555000	0.69702	CGG		0.662	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		114	440	0	0	0	1	0	114	440					T	122632714	C	T	122632714	3	4	79	1	0	0	0	0	1	0	0	0	14088	652	23	1	1368	1	SEMA5B	3	122632714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	951	122632714	75389716	4514	14831											
SEMA5B	54437	broad.mit.edu	37	chr3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaatcacaggatcgagctCgacacaggcaagagcctgag	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000357599.3	-	14	2290	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	635					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATCGAGCTCGACACAGGCA	0.622																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1903-1905)cGa>cAa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							71	68	69					3																	122634371		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634371C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1904G>A	3.37:g.122634371C>T	ENSP00000350215:p.Arg635Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	p.R635Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2207	-			635					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1904G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626479	0.66901	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	3.97	0.46021	.	0.056769	0.64402	N	0.000001	T	0.69269	0.3092	M	0.87381	2.88	0.58432	D	0.999992	D;B;B	0.89917	1.0;0.088;0.088	D;B;B	0.97110	1.0;0.05;0.05	T	0.71344	-0.4621	10	0.45353	T	0.12	.	10.3826	0.44121	0.0:0.8989:0.0:0.1011	.	577;635;635	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	635;635;577;689;635	ENSP00000350215:R635Q;ENSP00000195173:R635Q;ENSP00000389588:R689Q;ENSP00000377208:R635Q	ENSP00000195173:R635Q	R	-	2	0	SEMA5B	124117061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.785000	0.62418	1.180000	0.42898	0.561000	0.74099	CGA		0.622	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		53	216	0	0	0	1	0	53	216					T	122634371	C	T	122634371	3	4	79	1	0	0	0	0	1	0	0	0	14088	884	31	1	1591	1	SEMA5B	3	122634371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	122634371	75388059	4515	14832											
SEMA5B	54437	broad.mit.edu	37	chr3	122642572	122642572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcactgaggttgaaggcGcagacagcagaagccgcgat	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000195173.4_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	388	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C388C(1)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592																																						ENST00000195173.4																			2	Substitution - coding silent(2)	p.C388C(1)|p.C442C(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1162-1164)tgC>tgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							106	102	104					3																	122642572		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642572G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1164C>T	3.37:g.122642572G>A						SEMA5B_ENST00000357599.3_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	p.C388C			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1467	-			388			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1164C>T	CCDS35491.1																																																																																				0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		94	461	0	0	0	1	0	94	461					A	122642572	G	A	122642572	2	1	79	1	0	0	0	0	0	0	0	1	14088	1079	38	1		1	SEMA5B	3	122642572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8201	122642572	75379858	4516	14833											
SEMA5B	54437	broad.mit.edu	37	chr3	122646797	122646797	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtggcgtgggtcataGgggcagcgggccacaccatt	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000357599.3	-	8	1076	c.690C>A	c.(688-690)ccC>ccA	p.P230P	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGGGTCATAGGGGCAGCGGG	0.612																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(688-690)ccC>ccA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							95	91	92					3																	122646797		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646797G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.690C>A	3.37:g.122646797G>T						SEMA5B_ENST00000357599.3_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P	p.P230P			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	993	-			230			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.690C>A	CCDS35491.1																																																																																				0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		64	336	1	0	5.62145e-24	1	6.41091e-24	64	336					T	122646797	G	T	122646797	2	4	79	1	0	0	0	0	0	0	0	1	14088	987	35	3		3	SEMA5B	3	122646797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4225	122646797	75375633	4517	14834											
SEC22A	26984	broad.mit.edu	37	chr3	122978426	122978426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccttggaacagcagcctGcctttaccaggtaggttttc	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122978426G>A	ENST00000309934.4	+	5	1609	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T|SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	238					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACAGCAGCCTGCCTTTACCAG	0.333																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(712-714)tGc>tAc		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							81	80	80					3																	122978426		2203	4298	6501	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122978426G>A	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.713G>A	3.37:g.122978426G>A	ENSP00000310521:p.Cys238Tyr					SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y|SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T	p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	5	1609	+			238					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.713G>A	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432005|3.432005	0.62844|0.62844	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000481965|ENST00000492595;ENST00000473494;ENST00000309934	.|T;T;T	.|0.20069	.|2.1;2.11;2.1	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34890|0.34890	0.0913|0.0913	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36733	.|0.567	.|B	.|0.42343	.|0.384	T|T	0.18650|0.18650	-1.0330|-1.0330	6|10	0.30854|0.87932	T|D	0.27|0	1.1136|1.1136	14.4762|14.4762	0.67548|0.67548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238	.|Q96IW7	.|SC22A_HUMAN	T|Y	80|238	.|ENSP00000417972:C238Y;ENSP00000420343:C238Y;ENSP00000310521:C238Y	ENSP00000420128:A80T|ENSP00000310521:C238Y	A|C	+|+	1|2	0|0	SEC22A|SEC22A	124461116|124461116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.568000|6.568000	0.73987|0.73987	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.333	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		5	123	0	0	0	1	0	5	123					A	122978426	G	A	122978426	3	1	79	1	0	0	0	0	1	0	0	0	14038	1319	46	2	731	2	SEC22A	3	122978426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331629	122978426	75044004	4518	14835											
ADCY5	111	broad.mit.edu	37	chr3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttcatggcaaagtcgGccagtgccttgatgtgggtc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000462833.1	-	19	4667	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1152	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCAAAGTCGGCCAGTGCCTT	0.552																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3454-3456)gCc>gTc		adenylate cyclase 5							164	143	151					3																	123008674		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123008674G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3455C>T	3.37:g.123008674G>A	ENSP00000419361:p.Ala1152Val					ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	p.A1152V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	19	4667	-			1152			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3455C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500461	0.96355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.25579	1.79;1.79;1.79	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.39566	1.225	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.79108	0.531;0.992	T	0.04537	-1.0944	10	0.07644	T	0.81	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1152;810	O95622;B3KWA8	ADCY5_HUMAN;.	V	1152;810;802	ENSP00000419361:A1152V;ENSP00000418537:A810V;ENSP00000308685:A802V	ENSP00000308685:A802V	A	-	2	0	ADCY5	124491364	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	9.650000	0.98490	2.662000	0.90505	0.555000	0.69702	GCC		0.552	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		102	429	0	0	0	1	0	102	429					A	123008674	G	A	123008674	3	1	79	1	0	0	0	0	1	0	0	0	297	1203	42	2	342	2	ADCY5	3	123008674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30248	123008674	75013756	4519	14836											
ADCY5	111	broad.mit.edu	37	chr3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagccactcaccatccGcttcatctccttggacacct	4	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000462833.1	-	8	3295	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	695					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCATCCGCTTCATCTCC	0.627																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2083-2085)Cgg>Tgg		adenylate cyclase 5							76	75	76					3																	123044174		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123044174G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2083C>T	3.37:g.123044174G>A	ENSP00000419361:p.Arg695Trp					ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	p.R695W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	8	3295	-			695					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2083C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930897	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.82449	0.5039	L	0.55481	1.735	0.54753	D	0.999987	P;D	0.76494	0.797;0.999	B;P	0.61658	0.102;0.892	D	0.84288	0.0498	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:0.0:0.6016:0.3984	.	695;328	O95622;B3KWA8	ADCY5_HUMAN;.	W	695;328;345;254	ENSP00000419361:R695W;ENSP00000418537:R328W;ENSP00000308685:R345W;ENSP00000420082:R254W	ENSP00000308685:R345W	R	-	1	2	ADCY5	124526864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.795000	0.47861	1.377000	0.46286	0.655000	0.94253	CGG		0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		94	373	0	0	0	1	0	94	373					A	123044174	G	A	123044174	3	1	79	1	0	0	0	0	1	0	0	0	297	1086	38	1	1758	1	ADCY5	3	123044174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35500	123044174	74978256	4520	14837											
ADCY5	111	broad.mit.edu	37	chr3	123047580	123047580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgagaccaaggacaccGcagtgtactcgcccgctgtg	11	14	0	1	rs374468564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000462833.1	-	6	2928	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	572	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAGGACACCGCAGTGTACTC	0.592											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1714-1716)tgC>tgT		adenylate cyclase 5							178	139	152					3																	123047580		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123047580G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1716C>T	3.37:g.123047580G>A			OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1523	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	p.C572C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	6	2928	-			572			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1716C>T	CCDS3022.1																																																																																				0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		79	353	0	0	0	1	0	79	353					A	123047580	G	A	123047580	2	1	79	1	0	0	0	0	0	0	0	1	297	1079	38	1		1	ADCY5	3	123047580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3406	123047580	74974850	4521	14838											
ADCY5	111	broad.mit.edu	37	chr3	123049816	123049816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaggcagccccgagacGcagtaataacaatccccaag	9	14	1	1	rs148753023	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000462833.1	-	5	2778	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	522	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCCGAGACGCAGTAATAAC	0.483													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19864	0.004		0.0	False		,,,				2504	0.0					ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1564-1566)tgC>tgT		adenylate cyclase 5		G	,	1,4405	2.1+/-5.4	0,1,2202	79	71	74		516,1566	-4.6	0.9	3	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	172/912,522/1262	123049816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049816G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1566C>T	3.37:g.123049816G>A						ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	p.C522C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2778	-			522			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1566C>T	CCDS3022.1																																																																																				0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		51	209	0	0	0	1	0	51	209					A	123049816	G	A	123049816	2	1	79	1	0	0	0	0	0	0	0	1	297	1079	38	1		1	ADCY5	3	123049816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2236	123049816	74972614	4522	14839											
ADCY5	111	broad.mit.edu	37	chr3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggccagcttgtcaaagCgggcgaagagctcgttgagg	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000462833.1	-	4	2711	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	500	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTTGTCAAAGCGGGCGAAGAG	0.632																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1498-1500)cGc>cAc		adenylate cyclase 5							39	36	37					3																	123051430		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123051430C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1499G>A	3.37:g.123051430C>T	ENSP00000419361:p.Arg500His					ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	p.R500H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	4	2711	-			500			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1499G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206509	0.95033	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.92153	0.7512	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.94048	0.7315	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	500;133	O95622;B3KWA8	ADCY5_HUMAN;.	H	500;133;150;59;59	ENSP00000419361:R500H;ENSP00000418537:R133H;ENSP00000308685:R150H;ENSP00000420082:R59H;ENSP00000420252:R59H	ENSP00000308685:R150H	R	-	2	0	ADCY5	124534120	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	CGC		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		29	100	0	0	0	1	0	29	100					T	123051430	C	T	123051430	3	4	79	1	0	0	0	0	1	0	0	0	297	768	27	1	2358	1	ADCY5	3	123051430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1614	123051430	74971000	4523	14840											
PTPLB	201562	broad.mit.edu	37	chr3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacactcccattgggtacaGcacaatgaaaagtgtgtacc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	175					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418																																						ENST00000383657.5																			0				kidney(2)	2						c.(523-525)Ctg>Atg		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b							84	82	83					3																	123219521		1893	4114	6007	SO:0001583	missense	201562				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding	g.chr3:123219521G>T	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.523C>A	3.37:g.123219521G>T	ENSP00000373153:p.Leu175Met						p.L175M	NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN		GBM - Glioblastoma multiforme(114;0.1)	6	680	-			175						Missense_Mutation	SNP	ENST00000383657.5	37	c.523C>A	CCDS46895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291939|3.291939	0.59976|0.59976	.|.	.|.	ENSG00000206527|ENSG00000206527	ENST00000493515|ENST00000383657;ENST00000469317	.|T;T	.|0.53423	.|0.62;0.62	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68760|0.68760	0.3036|0.3036	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.71674	.|0.998	.|D	.|0.73380	.|0.98	T|T	0.71603|0.71603	-0.4543|-0.4543	5|10	.|0.66056	.|D	.|0.02	-7.5737|-7.5737	10.5981|10.5981	0.45349|0.45349	0.2203:0.0:0.7797:0.0|0.2203:0.0:0.7797:0.0	.|.	.|175	.|Q6Y1H2	.|HACD2_HUMAN	D|M	7|175;64	.|ENSP00000373153:L175M;ENSP00000419237:L64M	.|ENSP00000373153:L175M	A|L	-|-	2|1	0|2	PTPLB|PTPLB	124702211|124702211	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.086000|4.086000	0.57664|0.57664	0.847000|0.847000	0.35167|0.35167	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG		0.418	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402		25	154	1	0	8.24728e-16	1	9.03206e-16	25	154					T	123219521	G	T	123219521	3	4	79	1	0	0	0	0	1	0	0	0	12825	962	34	3	249	3	PTPLB	3	123219521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168091	123219521	74802909	4524	14841											
MYLK	4638	broad.mit.edu	37	chr3	123337592	123337592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttcctcagcaacagcCtcaaggaaagcttgggacac	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000475616.1	-	30	5393	c.5394G>A	c.(5392-5394)gaG>gaA	p.E1798E	MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000360772.3_Silent_p.E1747E			Q15746	MYLK_HUMAN	myosin light chain kinase	1798					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5239-5241)gaG>gaA		myosin light chain kinase							106	106	106					3																	123337592		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123337592C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5394G>A	3.37:g.123337592C>T						MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000475616.1_Silent_p.E1798E	p.E1747E			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	33	5619	-		Lung NSC(201;0.0496)	1798			Calmodulin-binding.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5241G>A	CCDS46896.1																																																																																				0.443	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		75	346	0	0	0	1	0	75	346					T	123337592	C	T	123337592	2	4	79	1	0	0	0	0	0	0	0	1	10097	680	24	2		2	MYLK	3	123337592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118071	123337592	74684838	4525	14842											
MYLK	4638	broad.mit.edu	37	chr3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatttcctgccactgaGccctgagatcattgccatag	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000475616.1	-	29	5298	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I			Q15746	MYLK_HUMAN	myosin light chain kinase	1767	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5146-5148)Ctc>Atc		myosin light chain kinase							221	215	217					3																	123339123		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123339123G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5299C>A	3.37:g.123339123G>T	ENSP00000418335:p.Leu1767Ile					MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000475616.1_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK-AS1_ENST00000470449.1_RNA	p.L1716I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	32	5524	-		Lung NSC(201;0.0496)	1767			Calmodulin-binding.|Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5146C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629067	0.46944	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67345	-0.19;-0.26;-0.19;0.16;-0.25;-0.02;-0.26	5.24	5.24	0.73138	Protein kinase-like domain (1);	.	.	.	.	T	0.50429	0.1615	N	0.12182	0.205	0.33631	D	0.60607	B;P;B;P;B;B	0.43578	0.295;0.811;0.259;0.68;0.195;0.012	B;B;B;B;B;B	0.40534	0.132;0.332;0.099;0.21;0.062;0.002	T	0.62348	-0.6873	9	0.36615	T	0.2	.	14.8475	0.70270	0.0:0.0:0.8475:0.1524	.	1767;1647;1716;1698;1767;80	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1716;1767;1716;7;1698;567;1767	ENSP00000354004:L1716I;ENSP00000353452:L1767I;ENSP00000352088:L1716I;ENSP00000428967:L7I;ENSP00000320622:L1698I;ENSP00000346846:L567I;ENSP00000418335:L1767I	ENSP00000320622:L1698I	L	-	1	0	MYLK	124821813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.449000	0.52950	2.720000	0.93068	0.557000	0.71058	CTC		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		201	923	1	0	8.23634e-74	1	1.04889e-73	201	923					T	123339123	G	T	123339123	3	4	79	1	0	0	0	0	1	0	0	0	10097	971	34	3	457	3	MYLK	3	123339123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531	123339123	74683307	4526	14843											
MYLK	4638	broad.mit.edu	37	chr3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctttcttcagcagaTtgctgatgaaatccttggca	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000475616.1	-	27	5092	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000360772.3_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	1698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCAGATTGCTGATGAA	0.493																																						ENST00000360304.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5092-5094)aAt>aCt		myosin light chain kinase							134	122	126					3																	123348342		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123348342T>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5093A>C	3.37:g.123348342T>G	ENSP00000418335:p.Asn1698Thr					MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.N1698T|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK-AS1_ENST00000470449.1_RNA	p.N1698T	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5374	-		Lung NSC(201;0.0496)	1698			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5093A>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800906	0.50315	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	-3.02	0.05446	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	0.60235	0.2253	N	0.13043	0.29	0.24979	N	0.991617	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.962;0.938;0.969	T	0.59579	-0.7428	9	0.44086	T	0.13	.	13.1719	0.59604	0.0:0.542:0.0:0.458	.	1698;1629;1698	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1698;1629;498;1698	ENSP00000353452:N1698T;ENSP00000320622:N1629T;ENSP00000346846:N498T;ENSP00000418335:N1698T	ENSP00000320622:N1629T	N	-	2	0	MYLK	124831032	0.841000	0.29509	0.016000	0.15963	0.503000	0.33858	0.656000	0.24948	-0.692000	0.05128	-0.904000	0.02843	AAT		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		68	281	0	0	0	1	0	68	281					G	123348342	T	G	123348342	3	3	79	1	0	0	0	0	1	0	0	0	10097	1493	52	4	671	4	MYLK	3	123348342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9219	123348342	74674088	4527	14844											
MYLK	4638	broad.mit.edu	37	chr3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaatgtcgtagaagtcaGatactttttgttcagtattg	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000475616.1	-	23	4381	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000360772.3_Missense_Mutation_p.S1461F			Q15746	MYLK_HUMAN	myosin light chain kinase	1461					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4381-4383)tCt>tTt		myosin light chain kinase							236	212	220					3																	123367851		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123367851G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4382C>T	3.37:g.123367851G>A	ENSP00000418335:p.Ser1461Phe					MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000475616.1_Missense_Mutation_p.S1461F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F	p.S1461F			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	27	4760	-		Lung NSC(201;0.0496)	1461					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4382C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506591	0.64410	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.36762	D	0.883317	P;D;P;P;P	0.53885	0.828;0.963;0.895;0.936;0.736	P;P;P;P;B	0.46940	0.532;0.528;0.532;0.528;0.332	T	0.17561	-1.0365	9	0.12766	T	0.61	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1461;1392;1461;1392;1461	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1461;1461;1461;1392;261;1461	ENSP00000354004:S1461F;ENSP00000353452:S1461F;ENSP00000352088:S1461F;ENSP00000320622:S1392F;ENSP00000346846:S261F;ENSP00000418335:S1461F	ENSP00000320622:S1392F	S	-	2	0	MYLK	124850541	0.994000	0.37717	0.999000	0.59377	0.908000	0.53690	4.640000	0.61368	2.370000	0.80446	0.650000	0.86243	TCT		0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		111	484	0	0	0	1	0	111	484					A	123367851	G	A	123367851	3	1	79	1	0	0	0	0	1	0	0	0	10097	942	33	2	1398	2	MYLK	3	123367851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19509	123367851	74654579	4528	14845											
MYLK	4638	broad.mit.edu	37	chr3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttggcaggagcactccGcctggccagcgtcattcttg	12	13	2	1	rs189757903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000475616.1	-	16	3535	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase	1179	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17009	0.0		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3535-3537)gCg>gTg		myosin light chain kinase							94	71	79					3																	123411611		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123411611G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3536C>T	3.37:g.123411611G>A	ENSP00000418335:p.Ala1179Val					MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1179V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V	p.A1179V			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	20	3914	-		Lung NSC(201;0.0496)	1179			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3536C>T	CCDS46896.1	40	0.018315018315018316	14	0.028455284552845527	1	0.0027624309392265192	11	0.019230769230769232	14	0.018469656992084433	G	32	5.185768	0.94885	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.991;0.992;0.997;0.997;0.996	P;P;P;P;D;D	0.65874	0.857;0.639;0.704;0.857;0.939;0.932	T	0.62886	-0.6759	9	0.07813	T	0.8	.	15.8618	0.79032	0.0:0.0:1.0:0.0	.	1179;257;1110;1179;1110;1179	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	V	1179;1179;1179;1110;1179	ENSP00000354004:A1179V;ENSP00000353452:A1179V;ENSP00000352088:A1179V;ENSP00000320622:A1110V;ENSP00000418335:A1179V	ENSP00000320622:A1110V	A	-	2	0	MYLK	124894301	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.439000	0.73430	2.514000	0.84764	0.563000	0.77884	GCG		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		64	280	0	0	0	1	0	64	280					A	123411611	G	A	123411611	3	1	79	1	0	0	0	0	1	0	0	0	10097	1087	38	1	2272	1	MYLK	3	123411611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43760	123411611	74610819	4529	14846											
MYLK	4638	broad.mit.edu	37	chr3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcggacctctccagcgCtgttccaggcctcgcaggtg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000475616.1	-	12	2098	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000360772.3_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase	700	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2098-2100)aGc>aAc		myosin light chain kinase							75	70	72					3																	123427586		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123427586C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2099G>A	3.37:g.123427586C>T	ENSP00000418335:p.Ser700Asn					MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000475616.1_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N	p.S700N			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	16	2477	-		Lung NSC(201;0.0496)	700			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2099G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865819	0.71949	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65984	0.2744	M	0.69463	2.115	0.80722	D	1	P;P;P;P;P	0.50443	0.734;0.806;0.837;0.935;0.775	B;B;B;P;P	0.46825	0.373;0.425;0.373;0.528;0.507	T	0.65533	-0.6145	9	0.36615	T	0.2	.	8.9041	0.35512	0.0:0.8614:0.0:0.1386	.	700;631;700;631;700	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	700;700;700;631;700	ENSP00000354004:S700N;ENSP00000353452:S700N;ENSP00000352088:S700N;ENSP00000320622:S631N;ENSP00000418335:S700N	ENSP00000320622:S631N	S	-	2	0	MYLK	124910276	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	4.971000	0.63749	2.453000	0.82957	0.655000	0.94253	AGC		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		70	333	0	0	0	1	0	70	333					T	123427586	C	T	123427586	3	4	79	1	0	0	0	0	1	0	0	0	10097	797	28	2	3725	2	MYLK	3	123427586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15975	123427586	74594844	4530	14847											
MYLK	4638	broad.mit.edu	37	chr3	123440981	123440981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggctcctaccatggaCggtgacccaggcgctgcagg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123440981C>T	ENST00000475616.1	-	10	1797	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000360772.3_Missense_Mutation_p.V600I			Q15746	MYLK_HUMAN	myosin light chain kinase	600					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTACCATGGACGGTGACCCAG	0.582																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1798-1800)Gtc>Atc		myosin light chain kinase							14	12	12					3																	123440981		2193	4285	6478	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123440981C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1798G>A	3.37:g.123440981C>T	ENSP00000418335:p.Val600Ile					MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000475616.1_Missense_Mutation_p.V600I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I	p.V600I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	14	2176	-		Lung NSC(201;0.0496)	600					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1798G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770011	0.15983	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.53	2.83	0.33086	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83972	0.5370	M	0.83118	2.625	0.44485	D	0.997425	B;D;D;B;B	0.76494	0.204;0.999;0.994;0.432;0.243	B;D;P;B;B	0.79784	0.049;0.993;0.685;0.1;0.081	T	0.80509	-0.1351	9	0.25751	T	0.34	.	10.3436	0.43893	0.0:0.7826:0.0:0.2174	.	600;531;600;531;600	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	600;600;600;531;600	ENSP00000354004:V600I;ENSP00000353452:V600I;ENSP00000352088:V600I;ENSP00000320622:V531I;ENSP00000418335:V600I	ENSP00000320622:V531I	V	-	1	0	MYLK	124923671	0.937000	0.31787	0.064000	0.19789	0.143000	0.21401	1.837000	0.39201	0.324000	0.23333	-0.995000	0.02519	GTC		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	28	0	0	0	1	0	4	28					T	123440981	C	T	123440981	3	4	79	1	0	0	0	0	1	0	0	0	10097	536	19	1	4034	1	MYLK	3	123440981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13395	123440981	74581449	4531	14848											
MYLK	4638	broad.mit.edu	37	chr3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggtgatggagctggaaGtcttctgaaggaccggggtc	18	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000475616.1	-	7	1021	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000360772.3_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase	341					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1021-1023)aCt>aAt		myosin light chain kinase							62	68	66					3																	123452821		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452821G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1022C>A	3.37:g.123452821G>T	ENSP00000418335:p.Thr341Asn					MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000475616.1_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N	p.T341N			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1400	-		Lung NSC(201;0.0496)	341					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1022C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322766	0.41096	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.26;-0.2;-0.26;-0.3;-0.2	5.43	4.55	0.56014	.	.	.	.	.	T	0.60340	0.2261	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P	0.48407	0.91;0.288;0.91;0.288;0.855	P;B;P;B;P	0.50791	0.65;0.22;0.65;0.22;0.448	T	0.54866	-0.8229	9	0.16896	T	0.51	.	11.3941	0.49832	0.0844:0.0:0.9156:0.0	.	341;341;341;341;341	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	341	ENSP00000354004:T341N;ENSP00000353452:T341N;ENSP00000352088:T341N;ENSP00000320622:T341N;ENSP00000418335:T341N	ENSP00000320622:T341N	T	-	2	0	MYLK	124935511	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.146000	0.50631	1.520000	0.48965	0.655000	0.94253	ACT		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		51	619	1	0	9.57592e-29	1	1.11608e-28	51	619					T	123452821	G	T	123452821	3	4	79	1	0	0	0	0	1	0	0	0	10097	1029	36	3	4822	3	MYLK	3	123452821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11840	123452821	74569609	4532	14849											
CCDC14	64770	broad.mit.edu	37	chr3	123665936	123665936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaaaaagagacaaataTgtttgaatacattttagtag	8	3	0	2	rs373769754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000488653.2	-	8	1149	c.1059A>G	c.(1057-1059)acA>acG	p.T353T	CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000485727.1_Silent_p.T153T|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Silent_p.T312T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	353					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413																																						ENST00000485727.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21						c.(457-459)acA>acG		coiled-coil domain containing 14							174	163	167					3																	123665936		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123665936T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1059A>G	3.37:g.123665936T>C						CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000488653.2_Silent_p.T353T	p.T153T			Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	4	5051	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	353					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.459A>G																																																																																					0.413	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		95	508	0	0	0	1	0	95	508					C	123665936	T	C	123665936	2	2	79	1	0	0	0	0	0	0	0	1	2780	1451	51	4		4	CCDC14	3	123665936	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	213115	123665936	74356494	4533	14850											
ROPN1	54763	broad.mit.edu	37	chr3	123699239	123699239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccactggatgaggtcctgCggctgcaccctaatggcggc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123699239C>T	ENST00000184183.4	-	3	430	c.90G>A	c.(88-90)ccG>ccA	p.P30P	ROPN1_ENST00000479867.1_Silent_p.P30P|ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	30	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGAGGTCCTGCGGCTGCACCC	0.592																																						ENST00000479867.1																			0				lung(2)|ovary(1)|skin(1)	4						c.(88-90)ccG>ccA		rhophilin associated tail protein 1																																				SO:0001819	synonymous_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123699239C>T	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.90G>A	3.37:g.123699239C>T						ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000184183.4_Silent_p.P30P	p.P30P			Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	338	-			30			RIIa.		D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.90G>A	CCDS3026.1																																																																																				0.592	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		11	425	0	0	0	1	0	11	425					T	123699239	C	T	123699239	2	4	79	1	0	0	0	0	0	0	0	1	13573	755	27	1		1	ROPN1	3	123699239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33303	123699239	74323191	4534	14851											
KALRN	8997	broad.mit.edu	37	chr3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagtgcaccaggtgcTggacgtggtgcatgaggtgt	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000240874.3	+	9	1680	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000360013.3_Missense_Mutation_p.L508P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGGTGCTGGACGTGGTG	0.627																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1522-1524)cTg>cCg		kalirin, RhoGEF kinase							83	83	83					3																	124053224		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053224T>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1523T>C	3.37:g.124053224T>C	ENSP00000240874:p.Leu508Pro					KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000240874.3_Missense_Mutation_p.L508P	p.L508P	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1650	+			508					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1523T>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.102396|4.102396	0.76983|0.76983	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62105|.	0.05;0.05;0.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.74574|0.74574	0.3734|0.3734	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.81914|.	0.961;0.995;0.983|.	T|T	0.75693|0.75693	-0.3229|-0.3229	10|5	0.48119|.	T|.	0.1|.	.|.	15.1227|15.1227	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	508|486	ENSP00000418611:L508P;ENSP00000240874:L508P;ENSP00000353109:L508P|.	ENSP00000240874:L508P|.	L|W	+|+	2|1	0|0	KALRN|KALRN	125535914|125535914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	7.825000|7.825000	0.86693|0.86693	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		100	515	0	0	0	1	0	100	515					C	124053224	T	C	124053224	3	2	79	1	0	0	0	0	1	0	0	0	8005	1580	55	4	1557	4	KALRN	3	124053224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353985	124053224	73969206	4535	14852											
KALRN	8997	broad.mit.edu	37	chr3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacgagcggaagatcaagCtggacatcttcctgcaactg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000240874.3	+	13	2450	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000360013.3_Missense_Mutation_p.L765M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	765					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGATCAAGCTGGACATCTT	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2293-2295)Ctg>Atg		kalirin, RhoGEF kinase							100	81	88					3																	124117671		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124117671C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2293C>A	3.37:g.124117671C>A	ENSP00000240874:p.Leu765Met					KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000240874.3_Missense_Mutation_p.L765M	p.L765M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			13	2420	+			765					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2293C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.038179|5.038179	0.93630|0.93630	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	D;D;D|.	0.89681|.	-2.55;-2.55;-2.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.994;1.0|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.48119|.	T|.	0.1|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	765;111;765;765|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	M|R	765|742	ENSP00000418611:L765M;ENSP00000240874:L765M;ENSP00000353109:L765M|.	ENSP00000240874:L765M|.	L|S	+|+	1|3	2|2	KALRN|KALRN	125600361|125600361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|AGC		0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		76	325	1	0	1.34568e-36	1	1.61182e-36	76	325					A	124117671	C	A	124117671	3	1	79	1	0	0	0	0	1	0	0	0	8005	796	28	3	2343	3	KALRN	3	124117671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64447	124117671	73904759	4536	14853											
KALRN	8997	broad.mit.edu	37	chr3	124149506	124149506	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtcccgattccctaggttCtgggatggatccgcaatgga	12	10	1	0	rs138919966	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000240874.3	+	16	2864	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000360013.3_Silent_p.L903L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	903					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCCTAGGTTCTGGGATGGAT	0.567													C|||	12	0.00239617	0.0	0.0	5008	,	,		21582	0.0109		0.0	False		,,,				2504	0.001					ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2707-2709)Ctg>Ttg		kalirin, RhoGEF kinase							97	80	86					3																	124149506		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124149506C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2707C>T	3.37:g.124149506C>T						KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000240874.3_Silent_p.L903L	p.L903L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			16	2834	+			903					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2707C>T	CCDS3027.1																																																																																				0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		25	223	0	0	0	1	0	25	223					T	124149506	C	T	124149506	2	4	79	1	0	0	0	0	0	0	0	1	8005	912	32	2		2	KALRN	3	124149506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31835	124149506	73872924	4537	14854											
KALRN	8997	broad.mit.edu	37	chr3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaaacagaggaacaataGtaagaggtaaccagcacctc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000240874.3	+	32	4977	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4819-4821)aGt>aTt		kalirin, RhoGEF kinase							100	110	107					3																	124211723		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211723G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4820G>T	3.37:g.124211723G>T	ENSP00000240874:p.Ser1607Ile					KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000240874.3_Missense_Mutation_p.S1607I	p.S1607I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			32	4947	+			1607					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4820G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680189|2.680189	0.47886|0.47886	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;P|.	0.46512|.	0.042;0.421;0.879|.	B;B;B|.	0.43103|.	0.016;0.079;0.408|.	T|T	0.50857|0.50857	-0.8778|-0.8778	10|5	0.49607|.	T|.	0.09|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	I|L	1598;1607;1607|1576	ENSP00000418611:S1598I;ENSP00000240874:S1607I;ENSP00000353109:S1607I|.	ENSP00000240874:S1607I|.	S|V	+|+	2|1	0|0	KALRN|KALRN	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		68	254	1	0	2.05175e-36	1	2.45602e-36	68	254					T	124211723	G	T	124211723	3	4	79	1	0	0	0	0	1	0	0	0	8005	1029	36	3	4946	3	KALRN	3	124211723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62217	124211723	73810707	4538	14855											
KALRN	8997	broad.mit.edu	37	chr3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctccaggacttcagtgCgggccacagcagtgagctga	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000393496.1	+	2	259	c.95C>T	c.(94-96)gCg>gTg	p.A32V	KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1659					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCAGTGCGGGCCACAGC	0.637																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4975-4977)gCg>gTg		kalirin, RhoGEF kinase							27	30	29					3																	124281736		2035	4210	6245	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124281736C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.95C>T	3.37:g.124281736C>T	ENSP00000377134:p.Ala32Val					KALRN_ENST00000393496.1_Missense_Mutation_p.A32V	p.A1659V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			34	5103	+			1659			SH3 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000393496.1	37	c.4976C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399885|3.399885	0.62177|0.62177	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.73047|.	-0.71;0.29|.	4.84|4.84	3.95|3.95	0.45737|0.45737	Src homology-3 domain (3);|.	0.316165|.	0.28317|.	N|.	0.015790|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.66716|.	0.946;0.413|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.87932|.	D|.	0|.	.|.	15.1527|15.1527	0.72713|0.72713	0.0:0.8582:0.1418:0.0|0.0:0.8582:0.1418:0.0	.|.	32;1659|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	V|W	1659;32|1628	ENSP00000353109:A1659V;ENSP00000377134:A32V|.	ENSP00000353109:A1659V|.	A|R	+|+	2|1	0|2	KALRN|KALRN	125764426|125764426	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.212000|0.212000	0.24457|0.24457	7.606000|7.606000	0.82863|0.82863	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.637	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	NM_003947		33	131	0	0	0	1	0	33	131					T	124281736	C	T	124281736	3	4	79	1	0	0	0	0	1	0	0	0	8005	768	27	1	5177	1	KALRN	3	124281736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	124281736	73740694	4539	14856											
KALRN	8997	broad.mit.edu	37	chr3	124380766	124380766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatctaggacgtctgcaGggctttgaggtgagtcttta	13	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000393496.1_Silent_p.Q452Q|KALRN_ENST00000459915.1_Silent_p.Q203Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2110					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGTCTGCAGGGCTTTGAGG	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6331-6333)caG>caA		kalirin, RhoGEF kinase							177	153	161					3																	124380766		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380766G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1242G>A	3.37:g.124380766G>A						KALRN_ENST00000291478.4_Silent_p.Q414Q|KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	p.Q2111Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			45	6460	+			2110					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.6333G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204068	0.09704	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.29	2.42	0.29668	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	.	11.6186	0.51104	0.3065:0.0:0.6935:0.0	.	.	.	.	K	2080	.	.	R	+	2	0	KALRN	125863456	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	2.303000	0.43646	0.072000	0.16694	-1.945000	0.00491	AGG		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		94	467	0	0	0	1	0	94	467					A	124380766	G	A	124380766	2	1	79	1	0	0	0	0	0	0	0	1	8005	991	35	2		2	KALRN	3	124380766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99030	124380766	73641664	4540	14857											
KALRN	8997	broad.mit.edu	37	chr3	124413187	124413187	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttgatcacagtggccccaGaattccttgtgcccttggtg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000291478.5	+	20	2486	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2471					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCCCCAGAATTCCTTGT	0.458																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7414-7416)Gaa>Taa		kalirin, RhoGEF kinase							152	141	145					3																	124413187		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413187G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2323G>T	3.37:g.124413187G>T	ENSP00000291478:p.Glu775*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.E775*	p.E2472*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			53	7541	+			2471			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7414G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.291176|9.291176	0.99127|0.99127	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76300	.|0.3968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73366	.|-0.4005	.|3	0.07175|.	T|.	0.84|.	.|.	18.8398|18.8398	0.92177|0.92177	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	2472;775;743|2440	.|.	ENSP00000291478:E775X|.	E|Q	+|+	1|3	0|2	KALRN|KALRN	125895877|125895877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.739000|8.739000	0.91574|0.91574	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.458	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		12	523	1	0	1.3612e-06	1	1.40558e-06	12	523					T	124413187	G	T	124413187	4	4	79	1	0	0	0	0	0	1	0	0	8005	943	33	3	7780	3	KALRN	3	124413187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32421	124413187	73609243	4541	14858											
KALRN	8997	broad.mit.edu	37	chr3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacatccttgacactgAtaacagctcagccacataca	5	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2514					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTGACACTGATAACAGCTCA	0.537																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7543-7545)gAt>gCt		kalirin, RhoGEF kinase							148	129	136					3																	124413317		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413317A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2453A>C	3.37:g.124413317A>C	ENSP00000291478:p.Asp818Ala					KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|KALRN_ENST00000291478.4_Missense_Mutation_p.D818A	p.D2515A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			53	7671	+			2514			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.7544A>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529633|4.529633	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63255|.	-0.03;0.02;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.119778|.	0.56097|.	D|.	0.000030|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.16368|0.16368	0.405|0.405	0.34787|0.34787	D|D	0.735332|0.735332	B;B|.	0.25441|.	0.126;0.033|.	B;B|.	0.31946|.	0.138;0.042|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.54805|.	T|.	0.06|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	818;2514|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2515;818;786|2484	ENSP00000353109:D2515A;ENSP00000291478:D818A;ENSP00000402419:D786A|.	ENSP00000291478:D818A|.	D|I	+|+	2|1	0|0	KALRN|KALRN	125896007|125896007	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	4.526000|4.526000	0.60566|0.60566	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.537	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		71	383	0	0	0	1	0	71	383					C	124413317	A	C	124413317	3	2	79	1	0	0	0	0	1	0	0	0	8005	333	12	4	7910	4	KALRN	3	124413317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130	124413317	73609113	4542	14859											
UMPS	7372	broad.mit.edu	37	chr3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgttcaaccaatcaaaTtccaatgcttattagaagga	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	91	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ACCAATCAAATTCCAATGCTT	0.348																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(271-273)aTt>aCt		uridine monophosphate synthetase							78	68	72					3																	124454055		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124454055T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.272T>C	3.37:g.124454055T>C	ENSP00000232607:p.Ile91Thr					UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000413078.2_Intron	p.I91T	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	2	378	+			91			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.272T>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121934	0.56613	.	.	ENSG00000114491	ENST00000232607	T	0.72725	-0.68	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.350832	0.30260	N	0.010038	T	0.62221	0.2410	L	0.35854	1.095	0.80722	D	1	B	0.24186	0.099	B	0.25405	0.06	T	0.58301	-0.7660	10	0.29301	T	0.29	-22.7445	15.253	0.73561	0.0:0.0:0.0:1.0	.	91	P11172	UMPS_HUMAN	T	91	ENSP00000232607:I91T	ENSP00000232607:I91T	I	+	2	0	UMPS	125936745	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	2.178000	0.69098	0.533000	0.62120	ATT		0.348	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		26	146	0	0	0	1	0	26	146					C	124454055	T	C	124454055	3	2	79	1	0	0	0	0	1	0	0	0	17035	1493	52	4	278	4	UMPS	3	124454055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40738	124454055	73568375	4543	14860											
UMPS	7372	broad.mit.edu	37	chr3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtatctgcatgctgaagaCtcatgtagatattttgaatg	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	282	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATGCTGAAGACTCATGTAGAT	0.413																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(844-846)aCt>aTt		uridine monophosphate synthetase							126	120	122					3																	124456949		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456949C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.845C>T	3.37:g.124456949C>T	ENSP00000232607:p.Thr282Ile					UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I	p.T282I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	951	+			282			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.845C>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651757	0.67472	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.33	3.56	0.40772	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049005	0.85682	N	0.000000	T	0.73984	0.3657	M	0.66560	2.04	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.946;0.87	D;D;D	0.77004	0.989;0.925;0.919	T	0.73487	-0.3967	10	0.52906	T	0.07	-13.1542	10.057	0.42250	0.0:0.8464:0.0:0.1536	.	104;104;282	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	I	282;190;104;104	ENSP00000232607:T282I;ENSP00000443577:T190I;ENSP00000444988:T104I;ENSP00000397965:T104I	ENSP00000232607:T282I	T	+	2	0	UMPS	125939639	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.322000	0.65852	0.836000	0.34901	0.655000	0.94253	ACT		0.413	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		72	402	0	0	0	1	0	72	402					T	124456949	C	T	124456949	3	4	79	1	0	0	0	0	1	0	0	0	17035	565	20	2	855	2	UMPS	3	124456949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2894	124456949	73565481	4544	14861											
ITGB5	3693	broad.mit.edu	37	chr3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagattaagatcctcaggCtgatcccagactgacaactc	8	11	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATCCTCAGGCTGATCCCAGA	0.483																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1165-1167)caG>caT		integrin, beta 5							116	113	114					3																	124527965		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124527965C>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1167G>T	3.37:g.124527965C>A	ENSP00000296181:p.Gln389His					ITGB5_ENST00000488466.1_5'UTR	p.Q389H	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	9	1463	-			389					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1167G>T	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870481|1.870481	0.33069|0.33069	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.63255	.|-0.03	5.63|5.63	3.7|3.7	0.42460|0.42460	.|Integrin beta subunit, N-terminal (2);	.|0.444750	.|0.23612	.|N	.|0.046324	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.08118|0.08118	0|0	0.38473|0.38473	D|D	0.947511|0.947511	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.39692	.|T	.|0.17	.|.	8.5238|8.5238	0.33293|0.33293	0.1398:0.5011:0.3591:0.0|0.1398:0.5011:0.3591:0.0	.|.	.|389	.|P18084	.|ITB5_HUMAN	S|H	156|389	.|ENSP00000296181:Q389H	.|ENSP00000296181:Q389H	A|Q	-|-	1|3	0|2	ITGB5|ITGB5	126010655|126010655	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.138000|0.138000	0.16016|0.16016	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCC|CAG		0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		91	410	1	0	2.75442e-36	1	3.29635e-36	91	410					A	124527965	C	A	124527965	3	1	79	1	0	0	0	0	1	0	0	0	7928	796	28	3	1260	3	ITGB5	3	124527965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71016	124527965	73494465	4545	14862											
ITGB5	3693	broad.mit.edu	37	chr3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctccaccgttgttccagGtatcagggctgtaaaattct	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	353	VWFA.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTTGTTCCAGGTATCAGGGCT	0.383																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1057-1059)Cct>Tct		integrin, beta 5							72	76	75					3																	124536539		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124536539G>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1057C>T	3.37:g.124536539G>A	ENSP00000296181:p.Pro353Ser					ITGB5_ENST00000488466.1_Intron	p.P353S	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	8	1353	-			353			VWFA.		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1057C>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967283	0.92855	.	.	ENSG00000082781	ENST00000296181	D	0.97598	-4.45	5.91	5.91	0.95273	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.057286	0.64402	D	0.000001	D	0.98353	0.9453	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98908	1.0779	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	353	P18084	ITB5_HUMAN	S	353	ENSP00000296181:P353S	ENSP00000296181:P353S	P	-	1	0	ITGB5	126019229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.693000	0.98684	2.813000	0.96785	0.655000	0.94253	CCT		0.383	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		40	210	0	0	0	1	0	40	210					A	124536539	G	A	124536539	3	1	79	1	0	0	0	0	1	0	0	0	7928	1261	44	2	1374	2	ITGB5	3	124536539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	124536539	73485891	4546	14863											
ITGB5	3693	broad.mit.edu	37	chr3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgctgaggggcaggCtcctcaggacatggaagctg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	91					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAGGGGCAGGCTCCTCAGGAC	0.597																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(271-273)aGc>aTc		integrin, beta 5							69	69	69					3																	124578178		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124578178C>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.272G>T	3.37:g.124578178C>A	ENSP00000296181:p.Ser91Ile						p.S91I	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	3	568	-			91					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.272G>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881265	0.51801	.	.	ENSG00000082781	ENST00000296181	D	0.92752	-3.1	5.26	2.26	0.28386	Integrin beta subunit, N-terminal (2);	0.194739	0.56097	D	0.000035	D	0.90584	0.7048	L	0.55990	1.75	0.36569	D	0.872868	P	0.48016	0.904	P	0.51266	0.664	D	0.89985	0.4103	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4619:0.0:0.5381	.	91	P18084	ITB5_HUMAN	I	91	ENSP00000296181:S91I	ENSP00000296181:S91I	S	-	2	0	ITGB5	126060868	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	0.793000	0.26944	0.776000	0.33473	0.655000	0.94253	AGC		0.597	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		82	330	1	0	2.28164e-27	1	2.64155e-27	82	330					A	124578178	C	A	124578178	3	1	79	1	0	0	0	0	1	0	0	0	7928	797	28	3	2179	3	ITGB5	3	124578178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41639	124578178	73444252	4547	14864											
HEG1	57493	broad.mit.edu	37	chr3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactctactgtttcttctcGattccactgcagagggtgaa	8	10	3	2	rs373641692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	381					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1141-1143)tCg>tTg		heart development protein with EGF-like domains 1		G	LEU/SER	1,3847		0,1,1923	94	96	95		1142	-1.7	0	3		95	0,8274		0,0,4137	no	missense	HEG1	NM_020733.1	145	0,1,6060	AA,AG,GG		0.0,0.026,0.0082	benign	381/1382	124739746	1,12121	1924	4137	6061	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739746G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1142C>T	3.37:g.124739746G>A	ENSP00000311502:p.Ser381Leu						p.S381L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			4	1209	-			381					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1142C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128058	0.20959	2.6E-4	0.0	ENSG00000173706	ENST00000311127	T	0.42900	0.96	5.02	-1.67	0.08238	.	.	.	.	.	T	0.20414	0.0491	N	0.12746	0.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.06405	0.002;0.001	T	0.15521	-1.0434	9	0.34782	T	0.22	.	5.4471	0.16541	0.437:0.1444:0.4187:0.0	.	381;381	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	381	ENSP00000311502:S381L	ENSP00000311502:S381L	S	-	2	0	HEG1	126222436	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.359000	0.07632	-0.588000	0.05882	0.655000	0.94253	TCG		0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		48	155	0	0	0	1	0	48	155					A	124739746	G	A	124739746	3	1	79	1	0	0	0	0	1	0	0	0	7074	1059	37	1	3059	1	HEG1	3	124739746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161568	124739746	73282684	4548	14865											
HEG1	57493	broad.mit.edu	37	chr3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttctgacagccccatcGccctctctgttcccatctcc	4	19	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	239					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(715-717)gCg>gTg		heart development protein with EGF-like domains 1							63	63	63					3																	124746246		1973	4148	6121	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746246G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.716C>T	3.37:g.124746246G>A	ENSP00000311502:p.Ala239Val						p.A239V	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			3	783	-			239					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.716C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888195	0.17540	.	.	ENSG00000173706	ENST00000311127	T	0.42900	0.96	4.66	-7.15	0.01521	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	9	0.39692	T	0.17	.	3.2358	0.06763	0.1064:0.1681:0.4252:0.3003	.	239;239	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	239	ENSP00000311502:A239V	ENSP00000311502:A239V	A	-	2	0	HEG1	126228936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.919000	0.00334	-1.802000	0.01244	-2.159000	0.00328	GCG		0.537	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		26	190	0	0	0	1	0	26	190					A	124746246	G	A	124746246	3	1	79	1	0	0	0	0	1	0	0	0	7074	1087	38	1	3489	1	HEG1	3	124746246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6500	124746246	73276184	4549	14866											
HEG1	57493	broad.mit.edu	37	chr3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggttttctggagcatccGaagcagcatggctcttccca	11	11	2	1	rs201670111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	154					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.0					ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(460-462)tCg>tTg		heart development protein with EGF-like domains 1							97	90	92					3																	124748188		1946	4149	6095	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124748188G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.461C>T	3.37:g.124748188G>A	ENSP00000311502:p.Ser154Leu						p.S154L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			2	528	-			154					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.461C>T	CCDS46898.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.12	1.546652	0.27652	.	.	ENSG00000173706	ENST00000311127	T	0.51817	0.69	5.65	2.74	0.32292	.	.	.	.	.	T	0.30262	0.0759	N	0.20986	0.625	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.16958	-1.0385	9	0.27082	T	0.32	.	6.6872	0.23152	0.2865:0.0:0.7135:0.0	.	154;154	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	154	ENSP00000311502:S154L	ENSP00000311502:S154L	S	-	2	0	HEG1	126230878	0.088000	0.21588	0.065000	0.19835	0.001000	0.01503	0.541000	0.23207	0.963000	0.38082	-0.122000	0.15005	TCG		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		45	197	0	0	0	1	0	45	197					A	124748188	G	A	124748188	3	1	79	1	0	0	0	0	1	0	0	0	7074	1059	37	1	3748	1	HEG1	3	124748188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	124748188	73274242	4550	14867											
OSBPL11	114885	broad.mit.edu	37	chr3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccgagcatatgcacagGgtagagaaaatgtgtactct	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	568					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1702-1704)cCc>cAc		oxysterol binding protein-like 11							124	112	116					3																	125266388		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125266388G>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1703C>A	3.37:g.125266388G>T	ENSP00000296220:p.Pro568His						p.P568H	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			10	1992	-			568					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1703C>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563636	0.86335	.	.	ENSG00000144909	ENST00000296220	T	0.45668	0.89	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82238	-0.0556	10	0.87932	D	0	-14.7118	18.1718	0.89747	0.0:0.0:1.0:0.0	.	568	Q9BXB4	OSB11_HUMAN	H	568	ENSP00000296220:P568H	ENSP00000296220:P568H	P	-	2	0	OSBPL11	126749078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.318000	0.96334	2.524000	0.85096	0.467000	0.42956	CCC		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		67	321	1	0	5.00936e-31	1	5.8875e-31	67	321					T	125266388	G	T	125266388	3	4	79	1	0	0	0	0	1	0	0	0	11318	1232	43	3	556	3	OSBPL11	3	125266388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518200	125266388	72756042	4551	14868											
OSBPL11	114885	broad.mit.edu	37	chr3	125286413	125286413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgtctaattaagtctctTtgttgtccttcagcatgaga	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	231					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(691-693)caA>caG		oxysterol binding protein-like 11							164	144	151					3																	125286413		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125286413T>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.693A>G	3.37:g.125286413T>C							p.Q231Q	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			6	982	-			231					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.693A>G	CCDS3033.1																																																																																				0.388	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		36	322	0	0	0	1	0	36	322					C	125286413	T	C	125286413	2	2	79	1	0	0	0	0	0	0	0	1	11318	1838	64	4		4	OSBPL11	3	125286413	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20025	125286413	72736017	4552	14869											
SLC41A3	54946	broad.mit.edu	37	chr3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T													ctgtacaccttcttggcacaGcagcagtgtggcccacggag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	465						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507																																						ENST00000315891.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1393-1395)gCt>gAt		solute carrier family 41, member 3							58	55	56					3																	125725380		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125725380G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1394C>A	3.37:g.125725380G>T	ENSP00000326070:p.Ala465Asp					SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	p.A465D	NM_001008485.1|NM_017836.3	NP_001008485.1|NP_060306.3	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	12	1632	-			465					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.1394C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842629	0.16963	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34667	1.35;1.35	3.69	-6.75	0.01738	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17653	-1.0362	9	0.49607	T	0.09	-16.7887	0.8389	0.01145	0.1802:0.2234:0.3116:0.2848	.	429;465	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	429;465	ENSP00000264471:A429D;ENSP00000326070:A465D	ENSP00000326070:A465D	A	-	2	0	SLC41A3	127208070	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.509000	0.06336	-1.735000	0.01353	0.591000	0.81541	GCT		0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		34	159	1	0	2.09667e-21	1	2.36065e-21	34	159					T	125725380	G	T	125725380	3	4	79	1	0	0	0	0	1	0	0	0	14681	971	34	3	133	3	SLC41A3	3	125725380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438967	125725380	72297050	4553	14870	90	2									
SLC41A3	54946	broad.mit.edu	37	chr3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T													tacaccttcttggcacagcaGcagtgtggcccacggagctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	464						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507																																						ENST00000315891.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1390-1392)gCt>gAt		solute carrier family 41, member 3							57	55	56					3																	125725383		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125725383G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1391C>A	3.37:g.125725383G>T	ENSP00000326070:p.Ala464Asp					SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	p.A464D	NM_001008485.1|NM_017836.3	NP_001008485.1|NP_060306.3	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	12	1629	-			464					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.1391C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489118	0.12641	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34472	1.36;1.36	3.69	-0.323	0.12709	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.015	T	0.30238	-0.9985	9	0.05525	T	0.97	-3.3093	3.513	0.07714	0.2091:0.0:0.5062:0.2847	.	428;464	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	428;464	ENSP00000264471:A428D;ENSP00000326070:A464D	ENSP00000326070:A464D	A	-	2	0	SLC41A3	127208073	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.395000	0.07287	-0.081000	0.12662	-0.948000	0.02665	GCT		0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		37	153	1	0	1.03484e-13	1	1.11885e-13	37	153					T	125725383	G	T	125725383	3	4	79	1	0	0	0	0	1	0	0	0	14681	971	34	3	136	3	SLC41A3	3	125725383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	125725383	72297047	4554	14871	90	2									
SLC41A3	54946	broad.mit.edu	37	chr3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatggccaggatgattGggaaccagccaaacttcagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000315891.6	-	7	1101	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	SLC41A3_ENST00000383598.2_Missense_Mutation_p.P262Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607																																						ENST00000383598.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(784-786)cCa>cAa		solute carrier family 41, member 3							84	78	80					3																	125735601		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125735601G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.863C>A	3.37:g.125735601G>T	ENSP00000326070:p.Pro288Gln					SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000315891.6_Missense_Mutation_p.P288Q	p.P262Q	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	6	1070	-			288					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.785C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962747	0.92791	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.89414	3.03	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;0.999;1.0;1.0;1.0;1.0	T	0.69942	-0.5008	10	0.72032	D	0.01	2.0573	16.9045	0.86123	0.0:0.0:1.0:0.0	.	171;288;288;252;288;262	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	288;252;262;279;288;171	ENSP00000353533:P288Q;ENSP00000264471:P252Q;ENSP00000373092:P262Q;ENSP00000326070:P288Q;ENSP00000427409:P171Q	ENSP00000326070:P288Q	P	-	2	0	SLC41A3	127218291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.596000	0.87737	0.591000	0.81541	CCA		0.607	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		60	296	1	0	2.22609e-26	1	2.56449e-26	60	296					T	125735601	G	T	125735601	3	4	79	1	0	0	0	0	1	0	0	0	14681	1348	47	3	782	3	SLC41A3	3	125735601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10218	125735601	72286829	4555	14872											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctagatctttgccaaatccaGactgtttgaatcctccgaag	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000393434.2	-	22	2982	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	878	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2632-2634)tCt>tAt		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						175	167	169					3																	125824589		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824589G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2633C>A	3.37:g.125824589G>T	ENSP00000377083:p.Ser878Tyr					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y|ALDH1L1-AS1_ENST00000512384.1_RNA	p.S878Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2982	-			878			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2633C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443470	0.83993	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99937	4.99	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	0.98922	1.0784	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	777;413;878	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	888;878;777;878	ENSP00000273450:S888Y;ENSP00000420293:S878Y;ENSP00000395881:S777Y;ENSP00000377083:S878Y	ENSP00000273450:S888Y	S	-	2	0	ALDH1L1	127307279	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.304000	0.96190	2.329000	0.79093	0.591000	0.81541	TCT		0.493	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		98	423	1	0	5.30763e-54	1	6.62094e-54	98	423					T	125824589	G	T	125824589	3	4	79	1	0	0	0	0	1	0	0	0	494	942	33	3	83	3	ALDH1L1	3	125824589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88988	125824589	72197841	4556	14873											
ALDH1L1	10840	broad.mit.edu	37	chr3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggcccggccctcaccatCtgcacagccttgttgaggtc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000393434.2	-	18	2428	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	693	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2077-2079)caG>caT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						105	97	100					3																	125833403		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125833403C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2079G>T	3.37:g.125833403C>A	ENSP00000377083:p.Gln693His					ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H	p.Q693H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	18	2428	-			693			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2079G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045867	0.36085	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.82	1.0	0.19881	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.212560	0.40554	N	0.001072	T	0.09949	0.0244	L	0.38531	1.155	0.80722	D	1	D;D;P	0.59767	0.973;0.986;0.707	P;P;P	0.54889	0.71;0.763;0.5	T	0.19257	-1.0311	10	0.72032	D	0.01	.	2.8212	0.05471	0.2024:0.4583:0.0:0.3393	.	592;228;693	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	703;693;592;693	ENSP00000273450:Q703H;ENSP00000420293:Q693H;ENSP00000395881:Q592H;ENSP00000377083:Q693H	ENSP00000273450:Q703H	Q	-	3	2	ALDH1L1	127316093	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.044000	0.30329	0.407000	0.25591	-0.339000	0.08088	CAG		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		74	317	1	0	2.0493e-37	1	2.46103e-37	74	317					A	125833403	C	A	125833403	3	1	79	1	0	0	0	0	1	0	0	0	494	912	32	3	653	3	ALDH1L1	3	125833403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8814	125833403	72189027	4557	14874											
ALDH1L1	10840	broad.mit.edu	37	chr3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaggcatccttggctgCggccactgccttgtcgacgt	11	14	1	0	rs369044554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1399-1401)Gca>Aca		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						141	110	121					3																	125854451		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125854451C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1399G>A	3.37:g.125854451C>T	ENSP00000377083:p.Ala467Thr					ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T	p.A467T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	12	1748	-			467			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1399G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	ALDH1L1	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		9	301	0	0	0	1	0	9	301					T	125854451	C	T	125854451	3	4	79	1	0	0	0	0	1	0	0	0	494	768	27	1	1357	1	ALDH1L1	3	125854451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21048	125854451	72167979	4558	14875											
ALDH1L1	10840	broad.mit.edu	37	chr3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatccagttgtgaatggCctctgccggctggtcccagt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000393434.2	-	6	1004	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	219					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(655-657)Gcc>Acc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						112	92	99					3																	125873462		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125873462C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.655G>A	3.37:g.125873462C>T	ENSP00000377083:p.Ala219Thr					ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118_splice|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T	p.A219T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	6	1004	-			219					B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.655G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185578	0.57909	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.77750	0.95;0.95;-1.12;0.95;0.95;0.95	4.64	3.76	0.43208	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.124005	0.52532	D	0.000065	T	0.68622	0.3021	L	0.51853	1.615	0.48452	D	0.999652	P;B;B;B;B	0.36959	0.575;0.345;0.037;0.401;0.037	B;B;B;B;B	0.33799	0.153;0.17;0.034;0.14;0.034	T	0.64521	-0.6388	10	0.22706	T	0.39	.	11.9136	0.52753	0.1752:0.8248:0.0:0.0	.	44;118;271;124;219	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	T	229;219;118;219;219;44	ENSP00000273450:A229T;ENSP00000420293:A219T;ENSP00000395881:A118T;ENSP00000377083:A219T;ENSP00000377081:A219T;ENSP00000414126:A44T	ENSP00000273450:A229T	A	-	1	0	ALDH1L1	127356152	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.263000	0.51546	1.148000	0.42385	0.591000	0.81541	GCC		0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		86	351	0	0	0	1	0	86	351					T	125873462	C	T	125873462	3	4	79	1	0	0	0	0	1	0	0	0	494	739	26	2	2125	2	ALDH1L1	3	125873462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19011	125873462	72148968	4559	14876											
KLF15	28999	broad.mit.edu	37	chr3	126062615	126062615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccgcgggaagcggtgCaccttgatgtgcttggagag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	402					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)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAAGCGGTGCACCTTGATGT	0.657																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(1204-1206)gtG>gtA		Kruppel-like factor 15							52	50	51					3																	126062615		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126062615C>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.1206G>A	3.37:g.126062615C>T							p.V402V	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	1436	-			402						Silent	SNP	ENST00000296233.3	37	c.1206G>A	CCDS3036.1																																																																																				0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		13	270	0	0	0	1	0	13	270					T	126062615	C	T	126062615	2	4	79	1	0	0	0	0	0	0	0	1	8373	697	25	2		2	KLF15	3	126062615	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189153	126062615	71959815	4560	14877											
CCDC37	348807	broad.mit.edu	37	chr3	126138556	126138556	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatacaagctgtcgcccaagGagtggcttgaagaacaggaa	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138556G>T	ENST00000352312.1	+	9	907	c.808G>T	c.(808-810)Gag>Tag	p.E270*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	270										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCGCCCAAGGAGTGGCTTGA	0.493																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(811-813)Gag>Tag		coiled-coil domain containing 37							69	72	71					3																	126138556		2203	4300	6503	SO:0001587	stop_gained	348807							g.chr3:126138556G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.808G>T	3.37:g.126138556G>T	ENSP00000344749:p.Glu270*					CCDC37_ENST00000352312.1_Nonsense_Mutation_p.E270*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	p.E271*			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	910	+			270					D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	ENST00000352312.1	37	c.811G>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.350566	0.97498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-30.7575	14.9376	0.70970	0.0:0.0:1.0:0.0	.	.	.	.	X	270;271;271	.	ENSP00000344749:E270X	E	+	1	0	CCDC37	127621246	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.465000	0.90383	2.379000	0.81126	0.467000	0.42956	GAG		0.493	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		15	428	1	0	2.32078e-09	1	2.442e-09	15	428					T	126138556	G	T	126138556	4	4	79	1	0	0	0	0	0	1	0	0	2816	1175	41	3	838	3	CCDC37	3	126138556	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75941	126138556	71883874	4561	14878											
CCDC37	348807	broad.mit.edu	37	chr3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttctccagagggtcaGggtacaaagaagccctggag	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000352312.1	+	11	1062	c.963G>T	c.(961-963)caG>caT	p.Q321H	CCDC37_ENST00000393425.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	321										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGAGGGTCAGGGTACAAAGA	0.642																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(964-966)caG>caT		coiled-coil domain containing 37							30	30	30					3																	126138953		2203	4299	6502	SO:0001583	missense	348807							g.chr3:126138953G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.963G>T	3.37:g.126138953G>T	ENSP00000344749:p.Gln321His					CCDC37_ENST00000352312.1_Missense_Mutation_p.Q321H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	p.Q322H			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	11	1065	+			321					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.966G>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562646	0.13498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	3.37	-2.18	0.07037	.	1.302360	0.05056	N	0.479042	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.371;0.254	B;B	0.24701	0.055;0.025	T	0.16867	-1.0388	10	0.46703	T	0.11	-3.6099	3.9837	0.09506	0.3427:0.3519:0.3054:0.0	.	322;321	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	321;322;322	ENSP00000344749:Q321H;ENSP00000377076:Q322H;ENSP00000423046:Q322H	ENSP00000344749:Q321H	Q	+	3	2	CCDC37	127621643	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.407000	0.07178	-0.500000	0.06614	0.491000	0.48974	CAG		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		40	141	1	0	2.19358e-23	1	2.49351e-23	40	141					T	126138953	G	T	126138953	3	4	79	1	0	0	0	0	1	0	0	0	2816	991	35	3	1001	3	CCDC37	3	126138953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397	126138953	71883477	4562	14879											
CCDC37	348807	broad.mit.edu	37	chr3	126154401	126154401	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtcatttcttgccacccaGacttcgagaagagaagctcc	8	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000352312.1	+	16	1727		c.e16-1		CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCCACCCAGACTTCGAGAA	0.572																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.e16-1		coiled-coil domain containing 37							40	45	44					3																	126154401		2203	4300	6503	SO:0001630	splice_region_variant	348807							g.chr3:126154401G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1629-1G>T	3.37:g.126154401G>T						CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000352312.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site				Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	16	1730	+								D3DNA8|Q494V1|Q494V4|Q8N838	Splice_Site	SNP	ENST00000352312.1	37		CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900877	0.33535	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC37	127637091	1.000000	0.71417	0.930000	0.37139	0.256000	0.26092	6.572000	0.74005	2.162000	0.67917	0.491000	0.48974	.		0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	Intron	34	140	1	0	3.11337e-16	1	3.41587e-16	34	140					T	126154401	G	T	126154401	5	4	79	1	0	0	0	0	0	0	1	0	2816	956	33	3	1686	3	CCDC37	3	126154401	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15448	126154401	71868029	4563	14880											
ZXDC	79364	broad.mit.edu	37	chr3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgcttggaggtgaagagtCtgttgcaggtagaaactggg	17	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	460					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1378-1380)aGa>aAa		ZXD family zinc finger C							85	94	91					3																	126185060		2157	4274	6431	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126185060C>T	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1379G>A	3.37:g.126185060C>T	ENSP00000374359:p.Arg460Lys					ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1432	-			460					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1379G>A	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607080	0.28623	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35789	1.29;1.29	5.23	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056668	0.64402	D	0.000003	T	0.15392	0.0371	N	0.13043	0.29	0.28752	N	0.90137	B;B	0.20368	0.035;0.044	B;B	0.20577	0.017;0.03	T	0.33292	-0.9874	10	0.02654	T	1	-20.3099	5.432	0.16458	0.0:0.7589:0.0:0.2411	.	460;460	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	K	460	ENSP00000374359:R460K;ENSP00000337694:R460K	ENSP00000337694:R460K	R	-	2	0	ZXDC	127667750	1.000000	0.71417	0.716000	0.30569	0.648000	0.38561	5.981000	0.70524	2.593000	0.87608	0.591000	0.81541	AGA		0.577	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		16	327	0	0	0	1	0	16	327					T	126185060	C	T	126185060	3	4	79	1	0	0	0	0	1	0	0	0	18305	913	32	2	1227	2	ZXDC	3	126185060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30659	126185060	71837370	4564	14881											
UROC1	131669	broad.mit.edu	37	chr3	126208217	126208217	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctcaggaccaccggcGcctgtgcatggaaggacaga	14	13	1	1	rs371222476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	537					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)			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)		GACCACCGGCGCCTGTGCATG	0.592																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.e17-1		urocanate hydratase 1		G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	90	80	83		1790,1610	4.6	1	3		83	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	UROC1	NM_001165974.1,NM_144639.2	64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	597/737,537/677	126208217	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208217G>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.1609-1C>T	3.37:g.126208217G>A						UROC1_ENST00000383579.3_Splice_Site_p.A597_splice	p.A537_splice	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1663	-			537					E9PE13|Q14C64|Q68CJ7	Splice_Site	SNP	ENST00000290868.2	37	c.1608_splice	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902816	0.72754	4.54E-4	0.0	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.55930	0.49;0.49	4.59	4.59	0.56863	Urocanase domain (2);	0.052993	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66979	0.867;0.948	T	0.82884	-0.0236	10	0.87932	D	0	-21.838	11.2004	0.48739	0.0:0.1864:0.8136:0.0	.	597;537	E9PE13;Q96N76	.;HUTU_HUMAN	V	537;597	ENSP00000290868:A537V;ENSP00000373073:A597V	ENSP00000290868:A537V	A	-	2	0	UROC1	127690907	1.000000	0.71417	0.962000	0.40283	0.717000	0.41224	6.627000	0.74258	2.247000	0.74100	0.491000	0.48974	GCG		0.592	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	Missense_Mutation	68	346	0	0	0	1	0	68	346					A	126208217	G	A	126208217	5	1	79	1	0	0	0	0	0	0	1	0	17082	1101	38	1	436	1	UROC1	3	126208217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23157	126208217	71814213	4565	14882											
UROC1	131669	broad.mit.edu	37	chr3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggatccttgcctgggagCccaccacctgaggagagaag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	506					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)			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)		TGCCTGGGAGCCCACCACCTG	0.602																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1516-1518)gGc>gAc		urocanate hydratase 1							78	55	63					3																	126211352		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126211352C>T	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.1517G>A	3.37:g.126211352C>T	ENSP00000290868:p.Gly506Asp					UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	p.G506D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	16	1570	-			506					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1517G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593557	0.86953	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	H	0.97918	4.105	0.80722	D	1	D;D	0.56035	0.965;0.974	P;D	0.68192	0.866;0.956	D	0.93392	0.6752	10	0.87932	D	0	-20.383	15.3337	0.74234	0.0:1.0:0.0:0.0	.	566;506	E9PE13;Q96N76	.;HUTU_HUMAN	D	506;566	ENSP00000290868:G506D;ENSP00000373073:G566D	ENSP00000290868:G506D	G	-	2	0	UROC1	127694042	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.942000	0.75928	2.189000	0.69895	0.484000	0.47621	GGC		0.602	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		27	94	0	0	0	1	0	27	94					T	126211352	C	T	126211352	3	4	79	1	0	0	0	0	1	0	0	0	17082	739	26	2	533	2	UROC1	3	126211352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	126211352	71811078	4566	14883											
TXNRD3IT1	645840	broad.mit.edu	37	chr3	126290881	126290881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatgtgagagatcatccGctgatacctgttgtgggaga	12	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126290881G>A	ENST00000404489.2	-	2	488	c.396C>T	c.(394-396)agC>agT	p.S132S	TXNRD3NB_ENST00000383572.2_Silent_p.S132S			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	132										endometrium(1)|large_intestine(2)|skin(2)	5						gagatcatccgctgatacctg	0.473																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(394-396)agC>agT		thioredoxin reductase 3 neighbor							242	219	227					3																	126290881		2203	4300	6503	SO:0001819	synonymous_variant	645840							g.chr3:126290881G>A	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"thioredoxin reductase 3 new transcript 1"		"thioredoxin reductase 3 intronic transcript 1"	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.396C>T	3.37:g.126290881G>A						TXNRD3NB_ENST00000404489.2_Silent_p.S132S	p.S132S	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			4	874	-			132						Silent	SNP	ENST00000404489.2	37	c.396C>T	CCDS33846.1																																																																																				0.473	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		106	437	0	0	0	1	0	106	437					A	126290881	G	A	126290881	2	1	79	1	0	0	0	0	0	0	0	1	16863	1078	38	1		1	TXNRD3IT1	3	126290881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79529	126290881	71731549	4567	14884											
PLXNA1	5361	broad.mit.edu	37	chr3	126710388	126710388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggtattcgccggcacGcgaagtggccgcatccgcaa	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	ENST00000393409.2	+	2	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	PLXNA1_ENST00000251772.4_Silent_p.T429T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	452	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCGGCACGCGAAGTGGCC	0.672																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1285-1287)acG>acA		plexin A1							35	31	33					3																	126710388		2203	4296	6499	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126710388G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1356G>A	3.37:g.126710388G>A						PLXNA1_ENST00000393409.2_Silent_p.T452T	p.T429T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	1356	+			452			Sema.			Silent	SNP	ENST00000393409.2	37	c.1287G>A	CCDS33847.2																																																																																				0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		100	150	0	0	0	1	0	100	150					A	126710388	G	A	126710388	2	1	79	1	0	0	0	0	0	0	0	1	12161	1074	38	1		1	PLXNA1	3	126710388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419507	126710388	71312042	4568	14885											
PLXNA1	5361	broad.mit.edu	37	chr3	126733350	126733350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgggcccgaggcagggCggcacgcggctcactatcac	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	878	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2563-2565)ggC>ggT		plexin A1							38	43	42					3																	126733350		2202	4299	6501	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733350C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2634C>T	3.37:g.126733350C>T						PLXNA1_ENST00000393409.2_Silent_p.G878G	p.G855G			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	12	2634	+			878						Silent	SNP	ENST00000393409.2	37	c.2565C>T	CCDS33847.2																																																																																				0.697	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		46	172	0	0	0	1	0	46	172					T	126733350	C	T	126733350	2	4	79	1	0	0	0	0	0	0	0	1	12161	755	27	1		1	PLXNA1	3	126733350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22962	126733350	71289080	4569	14886											
PLXNA1	5361	broad.mit.edu	37	chr3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcagagccctggcagcGctcccatcatcatcaacatc	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1024	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3001-3003)Gct>Act		plexin A1							102	105	104					3																	126735415		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735415G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3070G>A	3.37:g.126735415G>A	ENSP00000377061:p.Ala1024Thr					PLXNA1_ENST00000393409.2_Missense_Mutation_p.A1024T	p.A1001T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	15	3070	+			1024			IPT/TIG 2.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3001G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702763	0.30232	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	2.96	0.34315	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.400014	0.23164	N	0.051205	T	0.66733	0.2819	L	0.46157	1.445	0.33196	D	0.551453	B	0.15930	0.015	B	0.20184	0.028	T	0.63171	-0.6697	10	0.22706	T	0.39	.	6.7254	0.23353	0.0995:0.0:0.6776:0.2228	.	1024	Q9UIW2	PLXA1_HUMAN	T	1024;1001	ENSP00000377061:A1024T;ENSP00000251772:A1001T	ENSP00000251772:A1001T	A	+	1	0	PLXNA1	128218105	0.863000	0.29885	0.928000	0.36995	0.689000	0.40095	2.159000	0.42339	0.836000	0.34901	-0.339000	0.08088	GCT		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		80	413	0	0	0	1	0	80	413					A	126735415	G	A	126735415	3	1	79	1	0	0	0	0	1	0	0	0	12161	1087	38	1	3128	1	PLXNA1	3	126735415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2065	126735415	71287015	4570	14887											
PLXNA1	5361	broad.mit.edu	37	chr3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacggtcacaggcaccaacCtggccactgtccgtgaaccc	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1073	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3148-3150)Ctg>Atg		plexin A1							65	63	64					3																	126735821		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735821C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3217C>A	3.37:g.126735821C>A	ENSP00000377061:p.Leu1073Met					PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1073M	p.L1050M			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	16	3217	+			1073			IPT/TIG 3.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3148C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330291	0.60743	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	D;D	0.81499	-1.5;-1.5	4.08	3.21	0.36854	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.89663	0.6780	M	0.90870	3.155	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	D	0.88768	0.3262	10	0.87932	D	0	.	6.8375	0.23945	0.0:0.6852:0.1465:0.1683	.	1073	Q9UIW2	PLXA1_HUMAN	M	1073;1050	ENSP00000377061:L1073M;ENSP00000251772:L1050M	ENSP00000251772:L1050M	L	+	1	2	PLXNA1	128218511	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	1.916000	0.39986	0.935000	0.37341	0.491000	0.48974	CTG		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		53	296	1	0	5.82218e-30	1	6.81768e-30	53	296					A	126735821	C	A	126735821	3	1	79	1	0	0	0	0	1	0	0	0	12161	680	24	3	3279	3	PLXNA1	3	126735821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406	126735821	71286609	4571	14888											
PLXNA1	5361	broad.mit.edu	37	chr3	126736699	126736699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagacgcaactgctgtgCgaggcgcccaacctcactgg	13	14	1	1	rs534048902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1208	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3553-3555)tgC>tgT		plexin A1							70	64	66					3																	126736699		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736699C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3624C>T	3.37:g.126736699C>T						PLXNA1_ENST00000393409.2_Silent_p.C1208C	p.C1185C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	18	3624	+			1208			IPT/TIG 4.			Silent	SNP	ENST00000393409.2	37	c.3555C>T	CCDS33847.2																																																																																				0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		55	312	0	0	0	1	0	55	312					T	126736699	C	T	126736699	2	4	79	1	0	0	0	0	0	0	0	1	12161	776	27	1		1	PLXNA1	3	126736699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	126736699	71285731	4572	14889											
PLXNA1	5361	broad.mit.edu	37	chr3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctggaggcacagcgcaGcttctccatgcgcgaccgcg	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1380					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4069-4071)aGc>aAc		plexin A1							65	55	58					3																	126741028		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126741028G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4139G>A	3.37:g.126741028G>A	ENSP00000377061:p.Ser1380Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.S1380N	p.S1357N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4139	+			1380						Missense_Mutation	SNP	ENST00000393409.2	37	c.4070G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641026	0.67244	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.165437	0.42053	D	0.000771	T	0.28830	0.0715	L	0.60067	1.865	0.47778	D	0.999519	P	0.46578	0.88	P	0.58660	0.843	T	0.02797	-1.1109	10	0.33940	T	0.23	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1380	Q9UIW2	PLXA1_HUMAN	N	1380;1357	ENSP00000377061:S1380N;ENSP00000251772:S1357N	ENSP00000251772:S1357N	S	+	2	0	PLXNA1	128223718	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.254000	0.78329	2.177000	0.69029	0.467000	0.42956	AGC		0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		27	127	0	0	0	1	0	27	127					A	126741028	G	A	126741028	3	1	79	1	0	0	0	0	1	0	0	0	12161	971	34	2	4221	2	PLXNA1	3	126741028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4329	126741028	71281402	4573	14890											
PLXNA1	5361	broad.mit.edu	37	chr3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggcgtgctcaagcaGctgctttccgacctcatcga	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1410					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4159-4161)caG>caT		plexin A1							61	61	61					3																	126741119		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126741119G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4230G>T	3.37:g.126741119G>T	ENSP00000377061:p.Gln1410His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.Q1410H	p.Q1387H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4230	+			1410						Missense_Mutation	SNP	ENST00000393409.2	37	c.4161G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950038	0.53186	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098879	0.43919	D	0.000501	T	0.19525	0.0469	L	0.39467	1.215	0.80722	D	1	B	0.21309	0.054	B	0.33254	0.16	T	0.14755	-1.0461	10	0.52906	T	0.07	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1410	Q9UIW2	PLXA1_HUMAN	H	1410;1387	ENSP00000377061:Q1410H;ENSP00000251772:Q1387H	ENSP00000251772:Q1387H	Q	+	3	2	PLXNA1	128223809	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.379000	0.66196	2.177000	0.69029	0.467000	0.42956	CAG		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		32	156	1	0	2.68265e-12	1	2.87809e-12	32	156					T	126741119	G	T	126741119	3	4	79	1	0	0	0	0	1	0	0	0	12161	962	34	3	4312	3	PLXNA1	3	126741119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	126741119	71281311	4574	14891											
TPRA1	131601	broad.mit.edu	37	chr3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgggtgatctcccacaGgatctgcacgcagagtgggc	15	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	117					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672																																						ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(349-351)Ctg>Atg		transmembrane protein, adipocyte asscociated 1							76	74	75					3																	127295733		2203	4300	6503	SO:0001583	missense	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127295733G>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"GPCR / Unclassified : 7TM orphan receptors"	30413	protein-coding gene	gene with protein product	"transmembrane protein 227"	608336	"G protein-coupled receptor 175"	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.349C>A	3.37:g.127295733G>T	ENSP00000347748:p.Leu117Met					TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M	p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			5	725	-			117					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.349C>A	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834041	0.71373	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.51	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68678	-0.5345	9	0.72032	D	0.01	-11.9186	10.4878	0.44733	0.1617:0.0:0.8383:0.0	.	117;117	Q86W33-3;Q86W33	.;TPRA1_HUMAN	M	117	.	ENSP00000296210:L117M	L	-	1	2	TPRA1	128778423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.232000	0.58645	1.006000	0.39211	0.591000	0.81541	CTG		0.672	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		55	220	1	0	9.57592e-29	1	1.11608e-28	55	220					T	127295733	G	T	127295733	3	4	79	1	0	0	0	0	1	0	0	0	16470	991	35	3	800	3	TPRA1	3	127295733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554614	127295733	70726697	4575	14892											
MCM2	4171	broad.mit.edu	37	chr3	127318161	127318161	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgcaccttctcttgcagGaatcatcggaatccttcacc	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	3	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.e2-1		minichromosome maintenance complex component 2							156	168	164					3																	127318161		2203	4300	6503	SO:0001630	splice_region_variant	4171				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127318161G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.7-1G>A	3.37:g.127318161G>A							p.E3_splice	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			2	251	+			3			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Splice_Site	SNP	ENST00000265056.7	37	c.6_splice	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192676	0.78902	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02301	4.35	5.2	5.2	0.72013	.	1.521000	0.04101	N	0.312860	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52403	-0.8580	10	0.59425	D	0.04	-21.1968	15.9144	0.79500	0.0:0.0:1.0:0.0	.	3	P49736	MCM2_HUMAN	K	3	ENSP00000265056:E3K	ENSP00000265056:E3K	E	+	1	0	MCM2	128800851	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.119000	0.71590	2.417000	0.82017	0.585000	0.79938	GAA		0.572	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		Missense_Mutation	269	1188	0	0	0	1	0	269	1188					A	127318161	G	A	127318161	5	1	79	1	0	0	0	0	0	0	1	0	9427	1188	41	2	13	2	MCM2	3	127318161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22428	127318161	70704269	4576	14893											
MCM2	4171	broad.mit.edu	37	chr3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccgctacctttcattcCggcgtgacaacaatgagctg	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	825					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.R825W(1)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	0.542																																						ENST00000265056.7																			1	Substitution - Missense(1)	p.R825W(1)	skin(1)	ovary(3)|skin(2)|stomach(1)	6						c.(2473-2475)Cgg>Tgg		minichromosome maintenance complex component 2							137	133	134					3																	127339940		2203	4300	6503	SO:0001583	missense	4171				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127339940C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2473C>T	3.37:g.127339940C>T	ENSP00000265056:p.Arg825Trp					MCM2_ENST00000468414.1_3'UTR	p.R825W	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			15	2717	+			825					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2473C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935240	0.73442	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02525	4.26	5.38	4.5	0.54988	.	0.103066	0.64402	D	0.000007	T	0.12347	0.0300	M	0.76002	2.32	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.99;0.975	D;P;P	0.72625	0.978;0.586;0.582	T	0.00235	-1.1892	10	0.87932	D	0	-21.8525	9.0803	0.36547	0.2869:0.5936:0.1195:0.0	.	875;695;825	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	W	825;729;875	ENSP00000265056:R825W	ENSP00000265056:R825W	R	+	1	2	MCM2	128822630	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.833000	0.39161	1.240000	0.43803	0.591000	0.81541	CGG		0.542	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			170	768	0	0	0	1	0	170	768					T	127339940	C	T	127339940	3	4	79	1	0	0	0	0	1	0	0	0	9427	643	23	1	2531	1	MCM2	3	127339940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21779	127339940	70682490	4577	14894											
ABTB1	80325	broad.mit.edu	37	chr3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcctcccccaggagccCgctgcgaggccaacaccttc	9	21	0	0	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCAGGAGCCCGCTGCGAGGC	0.637																																						ENST00000232744.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(181-183)Cgc>Tgc		ankyrin repeat and BTB (POZ) domain containing 1							14	16	15					3																	127394818		2198	4292	6490	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127394818C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.181C>T	3.37:g.127394818C>T	ENSP00000232744:p.Arg61Cys					ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR	p.R61C			Q969K4	ABTB1_HUMAN			4	267	+			61						Missense_Mutation	SNP	ENST00000232744.8	37	c.181C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939283	0.34189	.	.	ENSG00000114626	ENST00000361019;ENST00000232744	D	0.86366	-2.11	4.71	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.055368	0.64402	D	0.000003	D	0.87916	0.6298	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65773	0.938;0.93	D	0.87236	0.2263	10	0.51188	T	0.08	-5.7025	9.9066	0.41379	0.4822:0.5178:0.0:0.0	.	61;36	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	34;61	ENSP00000232744:R61C	ENSP00000232744:R61C	R	+	1	0	ABTB1	128877508	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.608000	0.74168	2.156000	0.67533	0.457000	0.33378	CGC		0.637	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		17	108	0	0	0	1	0	17	108					T	127394818	C	T	127394818	3	4	79	1	0	0	0	0	1	0	0	0	102	652	23	1	195	1	ABTB1	3	127394818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54878	127394818	70627612	4578	14895											
MGLL	11343	broad.mit.edu	37	chr3	127500698	127500698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagctcttcatagcggcCactgtgctctccggctccat	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127500698C>T	ENST00000434178.2	-	3	1062	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S			Q99685	MGLL_HUMAN	monoglyceride lipase	56					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCATAGCGGCCACTGTGCTCT	0.642																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(166-168)Ggc>Agc		monoglyceride lipase							51	54	53					3																	127500698		2056	4206	6262	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127500698C>T	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.166G>A	3.37:g.127500698C>T	ENSP00000402798:p.Gly56Ser					MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S	p.G56S			Q99685	MGLL_HUMAN			3	1062	-			56					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.166G>A	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474237	0.84640	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.66460	-0.21;-0.21;-0.21;0.98	5.19	5.19	0.71726	.	0.049669	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.64830	0.994;0.982;0.99;0.994	D;D;D;D	0.70716	0.966;0.945;0.97;0.968	T	0.79647	-0.1716	10	0.56958	D	0.05	-9.3992	14.2186	0.65809	0.0:1.0:0.0:0.0	.	66;56;56;66	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	S	56;66;56;66;66;56	ENSP00000402798:G56S;ENSP00000265052:G66S;ENSP00000381176:G56S;ENSP00000417489:G56S	ENSP00000265052:G66S	G	-	1	0	MGLL	128983388	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	6.278000	0.72614	2.411000	0.81874	0.467000	0.42956	GGC		0.642	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		10	385	0	0	0	1	0	10	385					T	127500698	C	T	127500698	3	4	79	1	0	0	0	0	1	0	0	0	9597	594	21	2	769	2	MGLL	3	127500698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105880	127500698	70521732	4579	14896											
KBTBD12	166348	broad.mit.edu	37	chr3	127646814	127646814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccttccactgcaattGgcatgtcatgctgtagtgac	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000405109.1	+	3	1745	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000405256.1_Silent_p.L426L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	426										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1276-1278)ttG>ttA		kelch repeat and BTB (POZ) domain containing 12							70	77	75					3																	127646814		2195	4293	6488	SO:0001819	synonymous_variant	166348							g.chr3:127646814G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1278G>A	3.37:g.127646814G>A						KBTBD12_ENST00000405256.1_Silent_p.L426L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L	p.L426L			Q3ZCT8	KBTBC_HUMAN			3	1745	+			426					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1278G>A	CCDS33848.2																																																																																				0.383	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		60	235	0	0	0	1	0	60	235					A	127646814	G	A	127646814	2	1	79	1	0	0	0	0	0	0	0	1	8021	1339	47	2		2	KBTBD12	3	127646814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146116	127646814	70375616	4580	14897											
SEC61A1	29927	broad.mit.edu	37	chr3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaccccaaaagaccgaGctctcttcaacggagcccaa	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	110					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(328-330)Gct>Act		Sec61 alpha 1 subunit (S. cerevisiae)							67	68	68					3																	127775659		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127775659G>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.328G>A	3.37:g.127775659G>A	ENSP00000243253:p.Ala110Thr					SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T|SEC61A1_ENST00000424880.2_Intron	p.A110T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			5	512	+			110					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.328G>A	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893797	0.72639	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.82517	2.595	0.80722	D	1	B	0.18166	0.026	B	0.34991	0.193	T	0.74518	-0.3639	9	0.36615	T	0.2	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	110	P61619	S61A1_HUMAN	T	116;110;57	.	ENSP00000243253:A110T	A	+	1	0	SEC61A1	129258349	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GCT		0.408	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		27	312	0	0	0	1	0	27	312					A	127775659	G	A	127775659	3	1	79	1	0	0	0	0	1	0	0	0	14050	971	34	2	346	2	SEC61A1	3	127775659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128845	127775659	70246771	4581	14898											
EEFSEC	60678	broad.mit.edu	37	chr3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagattgcctgccagaagCtggtcgtggtgctgaacaaa	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	141	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(421-423)Ctg>Atg		eukaryotic elongation factor, selenocysteine-tRNA-specific							184	185	185					3																	127965783		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965783C>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.421C>A	3.37:g.127965783C>A	ENSP00000254730:p.Leu141Met					EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			2	475	+			141					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.421C>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083757	0.20309	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;-0.6	4.95	3.0	0.34707	Protein synthesis factor, GTP-binding (2);	0.047246	0.85682	D	0.000000	T	0.43743	0.1261	N	0.10707	0.03	0.43036	D	0.994618	B;B	0.33171	0.4;0.05	B;B	0.34779	0.189;0.136	T	0.24333	-1.0163	10	0.10377	T	0.69	-7.6761	6.5504	0.22431	0.3495:0.5574:0.0:0.0931	.	141;141	C9J8T0;P57772	.;SELB_HUMAN	M	141	ENSP00000254730:L141M;ENSP00000417660:L141M	ENSP00000254730:L141M	L	+	1	2	EEFSEC	129448473	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.824000	0.55723	1.053000	0.40415	0.313000	0.20887	CTG		0.488	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		214	960	1	0	1.23709e-56	1	1.54833e-56	214	960					A	127965783	C	A	127965783	3	1	79	1	0	0	0	0	1	0	0	0	4947	796	28	3	427	3	EEFSEC	3	127965783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190124	127965783	70056647	4582	14899											
EEFSEC	60678	broad.mit.edu	37	chr3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcgggcccgggctggcCgtggggaggccaccaggcag	20	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	556					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGGCTGGCCGTGGGGAGGC	0.647																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(1666-1668)Cgt>Tgt		eukaryotic elongation factor, selenocysteine-tRNA-specific							49	45	46					3																	128126977		2203	4299	6502	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128126977C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1666C>T	3.37:g.128126977C>T	ENSP00000254730:p.Arg556Cys					EEFSEC_ENST00000483457.1_3'UTR	p.R556C	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			7	1720	+			556					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1666C>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081652	0.20309	.	.	ENSG00000132394	ENST00000254730	T	0.51071	0.72	4.8	2.74	0.32292	.	0.390062	0.27460	N	0.019265	T	0.27098	0.0664	N	0.22421	0.69	0.26590	N	0.973224	P	0.51653	0.947	B	0.34452	0.183	T	0.20042	-1.0287	10	0.72032	D	0.01	-9.3772	10.2348	0.43277	0.5808:0.4192:0.0:0.0	.	556	P57772	SELB_HUMAN	C	556	ENSP00000254730:R556C	ENSP00000254730:R556C	R	+	1	0	EEFSEC	129609667	0.981000	0.34729	0.106000	0.21319	0.066000	0.16364	0.969000	0.29370	0.980000	0.38523	0.467000	0.42956	CGT		0.647	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		10	203	0	0	0	1	0	10	203					T	128126977	C	T	128126977	3	4	79	1	0	0	0	0	1	0	0	0	4947	652	23	1	1692	1	EEFSEC	3	128126977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161194	128126977	69895453	4583	14900											
DNAJB8	165721	broad.mit.edu	37	chr3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccccggccaccacGgtcactattgaatgggctgt	12	14	1	1	rs374415635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	123					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(367-369)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily B, member 8		A	CYS/ARG	0,4406		0,0,2203	45	48	47		367	-0.2	0	3		47	1,8599	818.9+/-406.8	0,1,4299	no	missense	DNAJB8	NM_153330.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/233	128181722	1,13005	2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181722G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.367C>T	3.37:g.128181722G>A	ENSP00000417418:p.Arg123Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C	p.R123C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2924	-			123					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.367C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	A	0.198	-1.046853	0.01997	0.0	1.16E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73575	-0.76;-0.76	3.92	-0.192	0.13248	.	0.000000	0.32578	U	0.005905	T	0.54367	0.1854	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34800	-0.9814	10	0.38643	T	0.18	.	2.1147	0.03711	0.2071:0.1389:0.512:0.142	.	123	Q8NHS0	DNJB8_HUMAN	C	123	ENSP00000417418:R123C;ENSP00000316053:R123C	ENSP00000316053:R123C	R	-	1	0	DNAJB8	129664412	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.734000	0.26101	-0.869000	0.04052	-4.048000	0.00012	CGT		0.582	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		59	318	0	0	0	1	0	59	318					A	128181722	G	A	128181722	3	1	79	1	0	0	0	0	1	0	0	0	4642	1116	39	1	335	1	DNAJB8	3	128181722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54745	128181722	69840708	4584	14901											
GATA2	2624	broad.mit.edu	37	chr3	128204709	128204709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggtaggtggggatgggGtggtgtgtagcaggctgggt	25	2	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	244					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)			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)		TGGGGATGGGGTGGTGTGTAG	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				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						c.(730-732)caC>caT		GATA binding protein 2							113	107	109					3																	128204709		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.chr3:128204709G>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.732C>T	3.37:g.128204709G>A						GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	3	1063	-			244					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.732C>T	CCDS3049.1																																																																																				0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		17	226	0	0	0	1	0	17	226					A	128204709	G	A	128204709	2	1	79	1	0	0	0	0	0	0	0	1	6282	1252	44	2		2	GATA2	3	128204709	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22987	128204709	69817721	4585	14902											
ACAD9	28976	broad.mit.edu	37	chr3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttctccctgcaggtgGccatgaacatcctcaacagc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	296						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(886-888)Gcc>Acc		acyl-CoA dehydrogenase family, member 9							101	96	98					3																	128621399		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128621399G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.886G>A	3.37:g.128621399G>A	ENSP00000312618:p.Ala296Thr					ACAD9_ENST00000511526.1_3'UTR	p.A296T	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			9	967	+			296					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.886G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578975	0.96565	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96913	-4.17	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99533	1.0961	10	0.87932	D	0	.	16.1964	0.82029	0.0:0.0:1.0:0.0	.	173;246;296	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	T	296;163	ENSP00000312618:A296T	ENSP00000312618:A296T	A	+	1	0	ACAD9	130104089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.412000	0.81896	0.655000	0.94253	GCC		0.607	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		71	331	0	0	0	1	0	71	331					A	128621399	G	A	128621399	3	1	79	1	0	0	0	0	1	0	0	0	111	1203	42	2	920	2	ACAD9	3	128621399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416690	128621399	69401031	4586	14903											
KIAA1257	57501	broad.mit.edu	37	chr3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacgtcgtctgtgaagcCggcagtctttaatcggtaat	10	11	2	1	rs376957597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000265068.5	-	4	798	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	211								p.G211C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393																																						ENST00000265068.5																			1	Substitution - Missense(1)	p.G211C(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(631-633)Ggc>Agc		KIAA1257							137	134	135					3																	128706495		1848	4079	5927	SO:0001583	missense	57501							g.chr3:128706495C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.631G>A	3.37:g.128706495C>T	ENSP00000265068:p.Gly211Ser					KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S	p.G211S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	798	-			211					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.631G>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110812	0.37242	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.25405	0.06;0.06	T	0.15809	-1.0424	9	0.13108	T	0.6	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	S	211;211;99	.	ENSP00000265068:G211S	G	-	1	0	KIAA1257	130189185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.258000	0.21686	-0.225000	0.12378	GGC		0.393	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		71	330	0	0	0	1	0	71	330					T	128706495	C	T	128706495	3	4	79	1	0	0	0	0	1	0	0	0	8248	652	23	1	618	1	KIAA1257	3	128706495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85096	128706495	69315935	4587	14904											
KIAA1257	57501	broad.mit.edu	37	chr3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggctcagatgaggaCtcgatgctgctgcacgggcg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000515659.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(166-168)gaG>gaT		KIAA1257							96	107	103					3																	128711980		2157	4257	6414	SO:0001583	missense	57501							g.chr3:128711980C>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.168G>T	3.37:g.128711980C>A	ENSP00000265068:p.Glu56Asp					KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D	p.E56D	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			2	335	-			56					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.168G>T	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926960	0.34002	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-3.11	0.05299	.	.	.	.	.	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.37330	0.59;0.59	B;B	0.31614	0.133;0.133	T	0.14200	-1.0481	8	0.51188	T	0.08	-2.8392	2.5278	0.04695	0.4419:0.2146:0.2505:0.0929	.	56;56	Q9ULG3;D6RH05	K1257_HUMAN;.	D	56	.	ENSP00000265068:E56D	E	-	3	2	KIAA1257	130194670	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-0.451000	0.07097	-1.398000	0.01145	GAG		0.597	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		117	490	1	0	9.16818e-52	1	1.13871e-51	117	490					A	128711980	C	A	128711980	3	1	79	1	0	0	0	0	1	0	0	0	8248	564	20	3	1089	3	KIAA1257	3	128711980	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5485	128711980	69310450	4588	14905											
GP9	2815	broad.mit.edu	37	chr3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcagaacccctggcactgtGactgcagcctcacctatctg	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	90	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(268-270)Gac>Aac		glycoprotein IX (platelet)	Quinine(DB00468)						47	44	45					3																	128780850		2203	4300	6503	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780850G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"CD molecules"	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.268G>A	3.37:g.128780850G>A	ENSP00000303942:p.Asp90Asn						p.D90N	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	490	+			90			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.268G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291792	0.80914	.	.	ENSG00000169704	ENST00000307395	D	0.91068	-2.78	4.17	4.17	0.49024	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91723	0.7383	M	0.69185	2.1	0.45791	D	0.998672	D	0.63880	0.993	P	0.52309	0.695	D	0.91489	0.5210	10	0.42905	T	0.14	-34.9611	13.9974	0.64411	0.0:0.0:1.0:0.0	.	90	P14770	GPIX_HUMAN	N	90	ENSP00000303942:D90N	ENSP00000303942:D90N	D	+	1	0	GP9	130263540	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.765000	0.55272	2.120000	0.65058	0.462000	0.41574	GAC		0.682	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			61	304	0	0	0	1	0	61	304					A	128780850	G	A	128780850	3	1	79	1	0	0	0	0	1	0	0	0	6614	1290	45	2	270	2	GP9	3	128780850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68870	128780850	69241580	4589	14906											
GP9	2815	broad.mit.edu	37	chr3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcccgaggccctgctgcaGgtccgctgtgccagccccag	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	110	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(328-330)caG>caT		glycoprotein IX (platelet)	Quinine(DB00468)						15	15	15					3																	128780912		2196	4285	6481	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780912G>T		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"CD molecules"	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.330G>T	3.37:g.128780912G>T	ENSP00000303942:p.Gln110His						p.Q110H	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	552	+			110			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.330G>T	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233487	0.22626	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-7.05	0.01573	Cysteine-rich flanking region, C-terminal (1);	2.023410	0.02760	N	0.118489	T	0.82116	0.4967	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68557	-0.5377	10	0.30078	T	0.28	0.4949	8.6414	0.33978	0.0:0.1345:0.4621:0.4033	.	110	P14770	GPIX_HUMAN	H	110	ENSP00000303942:Q110H	ENSP00000303942:Q110H	Q	+	3	2	GP9	130263602	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.946000	0.00328	-1.210000	0.02627	0.462000	0.41574	CAG		0.701	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			20	171	1	0	1.00905e-13	1	1.09121e-13	20	171					T	128780912	G	T	128780912	3	4	79	1	0	0	0	0	1	0	0	0	6614	991	35	3	332	3	GP9	3	128780912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	128780912	69241518	4590	14907											
CNBP	7555	broad.mit.edu	37	chr3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatagcacttcactttgGtgcagtctttttgaatgtgt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	133					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTCACTTTGGTGCAGTCTTT	0.433																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(397-399)aCc>aTc		CCHC-type zinc finger, nucleic acid binding protein							100	89	93					3																	128889940		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889940G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.398C>T	3.37:g.128889940G>A	ENSP00000410619:p.Thr133Ile					CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I	p.T133I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			4	558	-			133					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.398C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792571	0.50102	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	5.74	5.74	0.90152	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.152074	0.64402	D	0.000015	T	0.74275	0.3695	M	0.72576	2.205	0.51233	D	0.999914	P;D;P	0.54964	0.955;0.969;0.908	P;P;P	0.55785	0.784;0.675;0.776	T	0.74777	-0.3550	9	0.49607	T	0.09	-4.9209	17.4245	0.87522	0.0:0.0:1.0:0.0	.	116;126;133	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	I	126;133;134;128;116;123;135	.	ENSP00000410619:T133I	T	-	2	0	CNBP	130372630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.013000	0.76373	2.732000	0.93576	0.591000	0.81541	ACC		0.433	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		55	293	0	0	0	1	0	55	293					A	128889940	G	A	128889940	3	1	79	1	0	0	0	0	1	0	0	0	3601	1261	44	2	143	2	CNBP	3	128889940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109028	128889940	69132490	4591	14908											
CNBP	7555	broad.mit.edu	37	chr3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcccagtggccagatcGtccacacttgaagcactcat	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	11					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(31-33)Cga>Tga		CCHC-type zinc finger, nucleic acid binding protein							49	49	49					3																	128890570		2203	4300	6503	SO:0001587	stop_gained	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890570G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.31C>T	3.37:g.128890570G>A	ENSP00000410619:p.Arg11*					CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*	p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			2	191	-			11					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Nonsense_Mutation	SNP	ENST00000422453.2	37	c.31C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241875	0.97403	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6404	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000410619:R11X	R	-	1	2	CNBP	130373260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.779000	0.95612	0.591000	0.81541	CGA		0.463	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		49	181	0	0	0	1	0	49	181					A	128890570	G	A	128890570	4	1	79	1	0	0	0	0	0	1	0	0	3601	1153	40	1	524	1	CNBP	3	128890570	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	630	128890570	69131860	4592	14909											
COPG	22820	broad.mit.edu	37	chr3	128991698	128991698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcactgtcaaggactgtgAtcccaccactggggagactg	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128991698A>C	ENST00000314797.6	+	21	2311	c.2207A>C	c.(2206-2208)gAt>gCt	p.D736A		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	736	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AAGGACTGTGATCCCACCACT	0.532																																						ENST00000314797.6																			0											c.(2206-2208)gAt>gCt		coatomer protein complex, subunit gamma 1							199	166	177					3																	128991698		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128991698A>C	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2207A>C	3.37:g.128991698A>C	ENSP00000325002:p.Asp736Ala						p.D736A	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			21	2311	+			736			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.2207A>C	CCDS33851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.1|26.1	4.709643|4.709643	0.89018|0.89018	.|.	.|.	ENSG00000181789|ENSG00000181789	ENST00000314797|ENST00000509889	T|.	0.41758|.	0.99|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84133|0.84133	0.5405|0.5405	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	D|.	0.66716|.	0.946|.	D|D	0.87590|0.87590	0.2490|0.2490	10|5	0.87932|.	D|.	0|.	-6.2992|-6.2992	14.3007|14.3007	0.66346|0.66346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	736|.	Q9Y678|.	COPG_HUMAN|.	A|L	736|50	ENSP00000325002:D736A|.	ENSP00000325002:D736A|.	D|I	+|+	2|1	0|0	COPG|COPG	130474388|130474388	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.897000|0.897000	0.52465|0.52465	9.136000|9.136000	0.94489|0.94489	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		26	147	0	0	0	1	0	26	147					C	128991698	A	C	128991698	3	2	79	1	0	0	0	0	1	0	0	0	3740	333	12	4	2289	4	COPG	3	128991698	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	101128	128991698	69030732	4593	14910											
C3orf37	56941	broad.mit.edu	37	chr3	128998687	128998687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggagggaccctgataagTactgcccctcttacaacaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128998687T>C	ENST00000383463.4	+	2	201	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	HMCES_ENST00000417226.2_Missense_Mutation_p.Y38H|HMCES_ENST00000389735.3_Missense_Mutation_p.Y38H|HMCES_ENST00000502878.2_Missense_Mutation_p.Y38H	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	38							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CCCTGATAAGTACTGCCCCTC	0.552																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(112-114)Tac>Cac									98	87	91					3																	128998687		2203	4300	6503	SO:0001583	missense	0							g.chr3:128998687T>C	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.112T>C	3.37:g.128998687T>C	ENSP00000372955:p.Tyr38His					C3orf37_ENST00000389735.3_Missense_Mutation_p.Y38H|C3orf37_ENST00000502878.2_Missense_Mutation_p.Y38H|C3orf37_ENST00000417226.2_Missense_Mutation_p.Y38H	p.Y38H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			2	201	+			38					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.112T>C	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938244	0.52972	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	4.8	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77584	-0.2533	9	0.59425	D	0.04	-21.1368	8.5671	0.33547	0.0:0.0934:0.0:0.9066	.	38;38	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	38	.	ENSP00000372955:Y38H	Y	+	1	0	C3orf37	130481377	1.000000	0.71417	0.086000	0.20670	0.028000	0.11728	5.333000	0.65917	0.674000	0.31244	0.533000	0.62120	TAC		0.552	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		48	217	0	0	0	1	0	48	217					C	128998687	T	C	128998687	3	2	79	1	0	0	0	0	1	0	0	0	2234	1638	57	4	114	4	C3orf37	3	128998687	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6989	128998687	69023743	4594	14911											
IFT122	55764	broad.mit.edu	37	chr3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggatgtcctcatcaaGcgatggcccccacccctgag	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000348417.2	+	29	3629	c.3552G>T	c.(3550-3552)aaG>aaT	p.K1184N	IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000296266.3_Missense_Mutation_p.K1235N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1184					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTCATCAAGCGATGGCCCC	0.652																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3703-3705)aaG>aaT		intraflagellar transport 122 homolog (Chlamydomonas)							110	90	97					3																	129238491		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129238491G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3552G>T	3.37:g.129238491G>T	ENSP00000324005:p.Lys1184Asn					IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000348417.2_Missense_Mutation_p.K1184N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N	p.K1235N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			30	3897	+			1184					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3705G>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561673	0.27915	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61510	0.75;0.1;0.24;0.29;0.9;0.89;0.74;0.31	5.97	4.2	0.49525	.	0.043465	0.85682	D	0.000000	T	0.68805	0.3041	M	0.70595	2.14	0.80722	D	1	D;D;D;P;P;P;P;P;D;D	0.67145	0.989;0.992;0.993;0.93;0.791;0.69;0.69;0.793;0.981;0.996	P;D;P;P;B;B;B;P;P;P	0.64687	0.787;0.928;0.738;0.615;0.335;0.335;0.335;0.536;0.617;0.866	T	0.65516	-0.6149	10	0.21014	T	0.42	-25.1101	10.6061	0.45394	0.2547:0.0:0.7453:0.0	.	975;510;1177;572;1061;1026;1074;1125;1184;1235	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	1125;1235;1177;1034;1061;1074;1184;1026;975	ENSP00000323973:K1125N;ENSP00000296266:K1235N;ENSP00000425536:K1177N;ENSP00000410946:K1034N;ENSP00000422179:K1061N;ENSP00000324165:K1074N;ENSP00000324005:K1184N;ENSP00000401569:K975N	ENSP00000296266:K1235N	K	+	3	2	IFT122	130721181	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	0.995000	0.29706	0.881000	0.35993	0.655000	0.94253	AAG		0.652	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		72	329	1	0	1.52808e-22	1	1.72976e-22	72	329					T	129238491	G	T	129238491	3	4	79	1	0	0	0	0	1	0	0	0	7585	962	34	3	3826	3	IFT122	3	129238491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239804	129238491	68783939	4595	14912											
IFT122	55764	broad.mit.edu	37	chr3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggtggcaatacttccGctcactgctgcctgacgcct	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000348417.2	+	29	3664	c.3587G>A	c.(3586-3588)cGc>cAc	p.R1196H	IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000296266.3_Missense_Mutation_p.R1247H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1196					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAATACTTCCGCTCACTGCTG	0.622																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3739-3741)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							137	111	120					3																	129238526		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129238526G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3587G>A	3.37:g.129238526G>A	ENSP00000324005:p.Arg1196His					IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000348417.2_Missense_Mutation_p.R1196H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H	p.R1247H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			30	3932	+			1196					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3740G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423331	0.83559	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.63417	0.61;-0.04;0.1;0.15;0.76;0.75;0.6;0.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.97;0.991;0.955;0.941;0.941;0.927;0.967;0.991;0.996	D	0.83452	0.0049	10	0.87932	D	0	-23.4214	20.428	0.99075	0.0:0.0:1.0:0.0	.	987;522;1189;584;1073;1038;1086;1137;1196;1247	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1137;1247;1189;1046;1073;1086;1196;1038;987	ENSP00000323973:R1137H;ENSP00000296266:R1247H;ENSP00000425536:R1189H;ENSP00000410946:R1046H;ENSP00000422179:R1073H;ENSP00000324165:R1086H;ENSP00000324005:R1196H;ENSP00000401569:R987H	ENSP00000296266:R1247H	R	+	2	0	IFT122	130721216	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.792000	0.99085	2.837000	0.97791	0.655000	0.94253	CGC		0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		81	421	0	0	0	1	0	81	421					A	129238526	G	A	129238526	3	1	79	1	0	0	0	0	1	0	0	0	7585	1087	38	1	3861	1	IFT122	3	129238526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	129238526	68783904	4596	14913											
PLXND1	23129	broad.mit.edu	37	chr3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcttggcctcgatgTtctcccgcagcagccactcc	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000324093.4	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCTCGATGTTCTCCCGCAG	0.642																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4648-4650)aAc>aGc		plexin D1							55	51	52					3																	129281956		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129281956T>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4649A>G	3.37:g.129281956T>C	ENSP00000317128:p.Asn1550Ser					PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550S	p.N1550S			Q9Y4D7	PLXD1_HUMAN			26	4827	-			1550					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4649A>G	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038040	0.75617	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10668	2.85;2.85	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.18923	0.0454	N	0.16790	0.44	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.87578	0.511;0.998	T	0.08554	-1.0716	10	0.42905	T	0.14	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1550	ENSP00000317128:N1550S;ENSP00000376931:N1550S	ENSP00000317128:N1550S	N	-	2	0	PLXND1	130764646	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.830000	0.86741	1.988000	0.58038	0.379000	0.24179	AAC		0.642	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		53	201	0	0	0	1	0	53	201					C	129281956	T	C	129281956	3	2	79	1	0	0	0	0	1	0	0	0	12169	1725	60	4	1172	4	PLXND1	3	129281956	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43430	129281956	68740474	4597	14914											
PLXND1	23129	broad.mit.edu	37	chr3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttcttggcggccgaggCgtcaatgaggtccaccagca	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000324093.4	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1473					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGGCCGAGGCGTCAATGAGG	0.592																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4417-4419)Gcc>Acc		plexin D1							111	95	100					3																	129284287		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284287C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4417G>A	3.37:g.129284287C>T	ENSP00000317128:p.Ala1473Thr					PLXND1_ENST00000324093.4_Missense_Mutation_p.A1473T	p.A1473T			Q9Y4D7	PLXD1_HUMAN			25	4595	-			1473					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4417G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885735	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11712	2.75;2.75	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.142434	0.46442	D	0.000293	T	0.19644	0.0472	L	0.36672	1.1	0.44807	D	0.997812	P;D	0.69078	0.572;0.997	B;P	0.59424	0.09;0.857	T	0.00443	-1.1736	10	0.72032	D	0.01	.	13.2338	0.59958	0.1589:0.8411:0.0:0.0	.	68;1473	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1473	ENSP00000317128:A1473T;ENSP00000376931:A1473T	ENSP00000317128:A1473T	A	-	1	0	PLXND1	130766977	0.996000	0.38824	1.000000	0.80357	0.132000	0.20833	3.060000	0.49955	2.294000	0.77228	0.561000	0.74099	GCC		0.592	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		78	325	0	0	0	1	0	78	325					T	129284287	C	T	129284287	3	4	79	1	0	0	0	0	1	0	0	0	12169	768	27	1	1408	1	PLXND1	3	129284287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2331	129284287	68738143	4598	14915											
PLXND1	23129	broad.mit.edu	37	chr3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggccacagtcaccaccCgcctgctcaccacctgcatg	7	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000324093.4	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCACCACCCGCCTGCTCAC	0.612																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1525-1527)cGg>cAg		plexin D1							88	59	69					3																	129305525		2202	4297	6499	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129305525C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1526G>A	3.37:g.129305525C>T	ENSP00000317128:p.Arg509Gln					PLXND1_ENST00000324093.4_Missense_Mutation_p.R509Q	p.R509Q			Q9Y4D7	PLXD1_HUMAN			3	1704	-			509			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1526G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589062	0.28357	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.10477	2.87;2.87;3.59	4.22	0.67	0.17923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.517808	0.18328	N	0.144595	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	B	0.33940	0.433	B	0.27796	0.083	T	0.38520	-0.9657	10	0.37606	T	0.19	.	7.5175	0.27608	0.0:0.4374:0.0:0.5626	.	509	Q9Y4D7	PLXD1_HUMAN	Q	509;509;72	ENSP00000317128:R509Q;ENSP00000376931:R509Q;ENSP00000426241:R72Q	ENSP00000317128:R509Q	R	-	2	0	PLXND1	130788215	0.033000	0.19621	0.016000	0.15963	0.772000	0.43724	0.364000	0.20325	0.225000	0.20959	0.407000	0.27541	CGG		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	28	0	0	0	1	0	7	28					T	129305525	C	T	129305525	3	4	79	1	0	0	0	0	1	0	0	0	12169	652	23	1	4387	1	PLXND1	3	129305525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21238	129305525	68716905	4599	14916											
TMCC1	23023	broad.mit.edu	37	chr3	129370342	129370342	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcatctaggggatgaaaaGaaccgttccacatagctgaa	9	9	2	3	rs114782689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129370342G>T	ENST00000393238.3	-	6	2284	c.1944C>A	c.(1942-1944)ttC>ttA	p.F648L	TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L|TMCC1_ENST00000432054.2_Missense_Mutation_p.F324L|TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	648						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGAAAAGAACCGTTCCA	0.493																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1942-1944)ttC>ttA		transmembrane and coiled-coil domain family 1							135	134	134					3																	129370342		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370342G>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1944C>A	3.37:g.129370342G>T	ENSP00000376930:p.Phe648Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L|TMCC1_ENST00000432054.2_Missense_Mutation_p.F324L|TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L	p.F648L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2284	-			648					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1944C>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	0.971	-0.700009	0.03279	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.38887	1.11;1.72;1.72;1.13	5.42	4.55	0.56014	.	0.265483	0.43919	N	0.000512	T	0.23171	0.0560	N	0.22421	0.69	0.32374	N	0.555462	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24657	-1.0154	10	0.02654	T	1	-5.8053	9.3168	0.37939	0.0722:0.0:0.7845:0.1433	.	469;648	B4DE04;O94876	.;TMCC1_HUMAN	L	324;648;534;469	ENSP00000404711:F324L;ENSP00000376930:F648L;ENSP00000389892:F534L;ENSP00000327349:F469L	ENSP00000327349:F469L	F	-	3	2	TMCC1	130853032	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.215000	0.32431	1.521000	0.48983	0.650000	0.86243	TTC		0.493	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		83	493	1	0	2.73807e-63	1	3.45546e-63	83	493					T	129370342	G	T	129370342	3	4	79	1	0	0	0	0	1	0	0	0	16044	933	33	3	21	3	TMCC1	3	129370342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64817	129370342	68652088	4600	14917											
TMCC1	23023	broad.mit.edu	37	chr3	129373835	129373835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcccgggcccgttcataGgactgatacgcgattttttc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373835G>A	ENST00000393238.3	-	5	1963	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	TMCC1_ENST00000432054.2_Silent_p.S217S|TMCC1_ENST00000426664.2_Silent_p.S427S|TMCC1_ENST00000329333.5_Silent_p.S362S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	541						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S541S(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCCGTTCATAGGACTGATACG	0.423																																						ENST00000393238.3																		PLXND1/TMCC1(4)	2	Substitution - coding silent(2)	p.S541S(2)	large_intestine(2)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1621-1623)tcC>tcT		transmembrane and coiled-coil domain family 1							152	152	152					3																	129373835		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129373835G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1623C>T	3.37:g.129373835G>A						TMCC1_ENST00000329333.5_Silent_p.S362S|TMCC1_ENST00000432054.2_Silent_p.S217S|TMCC1_ENST00000426664.2_Silent_p.S427S	p.S541S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			5	1963	-			541					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1623C>T	CCDS33855.1																																																																																				0.423	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		13	595	0	0	0	1	0	13	595					A	129373835	G	A	129373835	2	1	79	1	0	0	0	0	0	0	0	1	16044	987	35	2		2	TMCC1	3	129373835	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493	129373835	68648595	4601	14918											
TMCC1	23023	broad.mit.edu	37	chr3	129373889	129373889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttcctgcttcaagttcaaGatttcattctggtggagctc	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000393238.3	-	5	1909	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_ENST00000432054.2_Silent_p.I199I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000329333.5_Silent_p.I344I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	523						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1567-1569)atC>atT		transmembrane and coiled-coil domain family 1							133	131	132					3																	129373889		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129373889G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1569C>T	3.37:g.129373889G>A						TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000432054.2_Silent_p.I199I|TMCC1_ENST00000426664.2_Silent_p.I409I	p.I523I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			5	1909	-			523					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1569C>T	CCDS33855.1																																																																																				0.403	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		102	374	0	0	0	1	0	102	374					A	129373889	G	A	129373889	2	1	79	1	0	0	0	0	0	0	0	1	16044	932	33	2		2	TMCC1	3	129373889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	129373889	68648541	4602	14919											
TMCC1	23023	broad.mit.edu	37	chr3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgcagctggaggataGtttgggcagatttctggttc	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000393238.3	-	4	1212	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	291						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(871-873)aCt>aTt		transmembrane and coiled-coil domain family 1							154	145	148					3																	129389812		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389812G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.872C>T	3.37:g.129389812G>A	ENSP00000376930:p.Thr291Ile					TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I	p.T291I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1212	-			291					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.872C>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360066	0.61403	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.133374	0.64402	N	0.000002	T	0.65450	0.2692	M	0.65975	2.015	0.52099	D	0.999945	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.761	T	0.63247	-0.6680	10	0.42905	T	0.14	-16.8923	14.6945	0.69110	0.0:0.0:0.8549:0.1451	.	112;291	B4DE04;O94876	.;TMCC1_HUMAN	I	291;177;112	ENSP00000376930:T291I;ENSP00000389892:T177I;ENSP00000327349:T112I	ENSP00000327349:T112I	T	-	2	0	TMCC1	130872502	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.208000	0.65203	2.778000	0.95560	0.591000	0.81541	ACT		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		147	607	0	0	0	1	0	147	607					A	129389812	G	A	129389812	3	1	79	1	0	0	0	0	1	0	0	0	16044	1029	36	2	1101	2	TMCC1	3	129389812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15923	129389812	68632618	4603	14920											
TRH	7200	broad.mit.edu	37	chr3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcggcagcatcctggccGgcgctccccctggcttgcat	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000302649.3	+	3	943	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	139					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(415-417)cGg>cAg		thyrotropin-releasing hormone							59	55	57					3																	129695746		2203	4300	6503	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695746G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.416G>A	3.37:g.129695746G>A	ENSP00000303452:p.Arg139Gln					TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	p.R139Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	943	+			139					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.416G>A	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924578	0.52653	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.51071	0.72;0.72	4.55	2.71	0.32032	.	0.175624	0.48767	D	0.000173	T	0.62816	0.2459	M	0.82323	2.585	0.37560	D	0.919025	D	0.89917	1.0	P	0.62560	0.904	T	0.65721	-0.6099	10	0.59425	D	0.04	-13.5612	6.7371	0.23415	0.1006:0.1783:0.7211:0.0	.	139	P20396	TRH_HUMAN	Q	139;135	ENSP00000303452:R139Q;ENSP00000426522:R135Q	ENSP00000303452:R139Q	R	+	2	0	TRH	131178436	0.974000	0.33945	1.000000	0.80357	0.284000	0.27059	1.012000	0.29924	0.440000	0.26502	0.591000	0.81541	CGG		0.632	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		83	392	0	0	0	1	0	83	392					A	129695746	G	A	129695746	3	1	79	1	0	0	0	0	1	0	0	0	16531	1116	39	1	422	1	TRH	3	129695746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305934	129695746	68326684	4604	14921											
COL6A5	256076	broad.mit.edu	37	chr3	130095372	130095372	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaggctcataggacCtacttctctgcacccataaa	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000432398.2	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000265379.6_Silent_p.T120T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	120	Nonhelical region.|VWFA 1. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(358-360)acC>acA		collagen, type VI, alpha 5							64	61	62					3																	130095372		692	1591	2283	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130095372C>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.360C>A	3.37:g.130095372C>A						COL6A5_ENST00000432398.2_Silent_p.T120T	p.T120T			A8TX70	CO6A5_HUMAN			3	854	+			120			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.360C>A																																																																																					0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		21	58	1	0	1.96292e-10	1	2.08093e-10	21	58					A	130095372	C	A	130095372	2	1	79	1	0	0	0	0	0	0	0	1	3711	668	24	3		3	COL6A5	3	130095372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399626	130095372	67927058	4605	14922											
COL6A6	131873	broad.mit.edu	37	chr3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttgagatcaataaataCtccaacaagcaggatttggg	9	6	1	1	rs374174918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	493	Nonhelical region.|VWFA 3. {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)				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						TCAATAAATACTCCAACAAGC	0.488																																						ENST00000358511.6																			0				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						c.(1477-1479)taC>taA		collagen, type VI, alpha 6							111	113	113					3																	130285742		1909	4120	6029	SO:0001587	stop_gained	131873				axon guidance|cell adhesion	collagen		g.chr3:130285742C>A	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.1479C>A	3.37:g.130285742C>A	ENSP00000351310:p.Tyr493*					COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1510	+			493			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	37	c.1479C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822826	0.96989	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.18	1.37	0.22104	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.0:0.6915:0.0:0.3085	.	.	.	.	X	493	.	ENSP00000351310:Y493X	Y	+	3	2	COL6A6	131768432	0.091000	0.21658	0.011000	0.14972	0.541000	0.35023	0.641000	0.24720	-0.033000	0.13736	-0.254000	0.11334	TAC		0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		108	434	1	0	7.52027e-40	1	9.1024e-40	108	434					A	130285742	C	A	130285742	4	1	79	1	0	0	0	0	0	1	0	0	3712	576	20	3	1493	3	COL6A6	3	130285742	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190370	130285742	67736688	4606	14923											
COL6A6	131873	broad.mit.edu	37	chr3	130287198	130287198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcagccccaccaagggCgcccggcccaacatcagaaa	8	17	2	1	rs72992282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	Nonhelical region.|VWFA 4. {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)				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						CCACCAAGGGCGCCCGGCCCA	0.498													C|||	4	0.000798722	0.003	0.0	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0					ENST00000358511.6																			0				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						c.(2149-2151)ggC>ggT		collagen, type VI, alpha 6		C		10,3860		0,10,1925	86	89	88		2151	-1.1	1	3	dbSNP_130	88	0,8256		0,0,4128	no	coding-synonymous	COL6A6	NM_001102608.1		0,10,6053	TT,TC,CC		0.0,0.2584,0.0825		717/2264	130287198	10,12116	1935	4128	6063	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130287198C>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.2151C>T	3.37:g.130287198C>T						COL6A6_ENST00000453409.2_Silent_p.G717G	p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			5	2182	+			717			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2151C>T	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		75	410	0	0	0	1	0	75	410					T	130287198	C	T	130287198	2	4	79	1	0	0	0	0	0	0	0	1	3712	755	27	1		1	COL6A6	3	130287198	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1456	130287198	67735232	4607	14924											
COL6A6	131873	broad.mit.edu	37	chr3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttccactgggaacttTcataggtgaaaaagagatat	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	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)				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						CTGGGAACTTTCATAGGTGAA	0.453																																						ENST00000358511.6																			0				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						c.(3169-3171)tTc>tCc		collagen, type VI, alpha 6							61	59	59					3																	130292992		1866	4114	5980	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292992T>C	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.3170T>C	3.37:g.130292992T>C	ENSP00000351310:p.Phe1057Ser					COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			7	3201	+			1057			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3170T>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.928	-0.713765	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83673	-1.75;-1.75	5.15	-0.485	0.12067	von Willebrand factor, type A (3);	0.310046	0.28161	N	0.016375	T	0.71459	0.3342	M	0.64676	1.99	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.53464	-0.8435	10	0.10636	T	0.68	.	4.4914	0.11815	0.4938:0.1419:0.0:0.3644	.	1057	A6NMZ7	CO6A6_HUMAN	S	1057	ENSP00000351310:F1057S;ENSP00000399236:F1057S	ENSP00000351310:F1057S	F	+	2	0	COL6A6	131775682	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.469000	0.22067	-0.240000	0.09696	-0.496000	0.04628	TTC		0.453	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		55	181	0	0	0	1	0	55	181					C	130292992	T	C	130292992	3	2	79	1	0	0	0	0	1	0	0	0	3712	1783	62	4	3196	4	COL6A6	3	130292992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5794	130292992	67729438	4608	14925											
PIK3R4	30849	broad.mit.edu	37	chr3	130405110	130405110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagtgatgaggcccgaCtttaaatcatgctttaaagt	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1140					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3418-3420)aaG>aaA		phosphoinositide-3-kinase, regulatory subunit 4							124	114	117					3																	130405110		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405110C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3420G>A	3.37:g.130405110C>T						PIK3R4_ENST00000512677.1_5'UTR	p.K1140K	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			15	3977	-			1140					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.3420G>A	CCDS3067.1																																																																																				0.478	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		56	243	0	0	0	1	0	56	243					T	130405110	C	T	130405110	2	4	79	1	0	0	0	0	0	0	0	1	11963	564	20	2		2	PIK3R4	3	130405110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112118	130405110	67617320	4609	14926											
PIK3R4	30849	broad.mit.edu	37	chr3	130425901	130425901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggtagggcctgtggcAtgtttggtgggtccagtgac	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130425901A>G	ENST00000356763.3	-	11	3169	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	871					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCCTGTGGCATGTTTGGTGG	0.438																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2611-2613)aTg>aCg		phosphoinositide-3-kinase, regulatory subunit 4							132	116	121					3																	130425901		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130425901A>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2612T>C	3.37:g.130425901A>G	ENSP00000349205:p.Met871Thr						p.M871T	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			11	3169	-			871					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2612T>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	A	5.512	0.279403	0.10458	.	.	ENSG00000196455	ENST00000356763	T	0.39056	1.1	5.22	4.07	0.47477	.	0.595751	0.18439	N	0.141191	T	0.21468	0.0517	N	0.08118	0	0.23076	N	0.998338	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.15066	T	0.55	-0.4871	10.7844	0.46397	0.9252:0.0:0.0748:0.0	.	871	Q99570	PI3R4_HUMAN	T	871	ENSP00000349205:M871T	ENSP00000349205:M871T	M	-	2	0	PIK3R4	131908591	0.959000	0.32827	0.072000	0.20136	0.684000	0.39900	4.342000	0.59341	0.837000	0.34925	0.377000	0.23210	ATG		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		6	205	0	0	0	1	0	6	205					G	130425901	A	G	130425901	3	3	79	1	0	0	0	0	1	0	0	0	11963	217	8	4	1504	4	PIK3R4	3	130425901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20791	130425901	67596529	4610	14927											
PIK3R4	30849	broad.mit.edu	37	chr3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagaagctgtgctatgGcaggatcctctggcggaggg	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	766					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2296-2298)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 4							91	97	95					3																	130435274		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435274G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2297C>T	3.37:g.130435274G>A	ENSP00000349205:p.Ala766Val						p.A766V	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			9	2854	-			766					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2297C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276871	0.59758	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.50548	0.94;0.91;0.78;0.74	5.21	5.21	0.72293	.	0.101966	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.58432	D	0.999997	B	0.33883	0.43	B	0.30943	0.122	T	0.42327	-0.9458	10	0.37606	T	0.19	-7.1737	18.7681	0.91881	0.0:0.0:1.0:0.0	.	766	Q99570	PI3R4_HUMAN	V	766;125;125;125	ENSP00000349205:A766V;ENSP00000427302:A125V;ENSP00000424274:A125V;ENSP00000422767:A125V	ENSP00000349205:A766V	A	-	2	0	PIK3R4	131917964	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.659000	0.83766	2.439000	0.82584	0.655000	0.94253	GCC		0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		73	372	0	0	0	1	0	73	372					A	130435274	G	A	130435274	3	1	79	1	0	0	0	0	1	0	0	0	11963	1203	42	2	1827	2	PIK3R4	3	130435274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9373	130435274	67587156	4611	14928											
PIK3R4	30849	broad.mit.edu	37	chr3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtagcatagttaccaattCtctgatactgtgatcttcaa	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(862-864)Gaa>Taa		phosphoinositide-3-kinase, regulatory subunit 4							119	127	124					3																	130454718		2203	4299	6502	SO:0001587	stop_gained	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130454718C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.862G>T	3.37:g.130454718C>A	ENSP00000349205:p.Glu288*						p.E288*	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			3	1419	-			288			Protein kinase.		Q2TBF4	Nonsense_Mutation	SNP	ENST00000356763.3	37	c.862G>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	43	9.832098	0.99275	.	.	ENSG00000196455	ENST00000356763	.	.	.	5.48	5.48	0.80851	.	0.262537	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.9242	15.2285	0.73369	0.0:0.8598:0.1402:0.0	.	.	.	.	X	288	.	ENSP00000349205:E288X	E	-	1	0	PIK3R4	131937408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.138000	0.50570	2.732000	0.93576	0.591000	0.81541	GAA		0.318	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		66	295	1	0	9.04393e-38	1	1.08724e-37	66	295					A	130454718	C	A	130454718	4	1	79	1	0	0	0	0	0	1	0	0	11963	922	32	3	3286	3	PIK3R4	3	130454718	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19444	130454718	67567712	4612	14929											
ATP2C1	27032	broad.mit.edu	37	chr3	130656302	130656302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgttacagttgcctttGttcaggtaagtactctattt	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130656302G>A	ENST00000510168.1	+	6	905	c.355G>A	c.(355-357)Gtt>Att	p.V119I	ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	119					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTGCCTTTGTTCAGGTAAG	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(355-357)Gtt>Att		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						179	159	166					3																	130656302		2201	4300	6501	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130656302G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.355G>A	3.37:g.130656302G>A	ENSP00000427461:p.Val119Ile					ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I	p.V119I			P98194	AT2C1_HUMAN			6	905	+			119					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.355G>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200581	0.58126	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.38;-2.84;-2.84;-2.84;-2.84	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	N	0.20766	0.605	0.58432	D	0.999995	P;P;B;P;B;B;P	0.40578	0.675;0.722;0.096;0.675;0.096;0.421;0.476	B;B;B;B;B;B;B	0.41946	0.254;0.371;0.196;0.254;0.163;0.163;0.252	T	0.82504	-0.0424	10	0.12430	T	0.62	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	153;114;153;119;153;119;119	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	I	103;64;103;153;114;119;119;103;103;119;119;119;119;119;118	ENSP00000423774:V103I;ENSP00000425320:V64I;ENSP00000421326:V103I;ENSP00000376914:V153I;ENSP00000432956:V114I;ENSP00000427461:V119I;ENSP00000424783:V119I;ENSP00000423330:V103I;ENSP00000422872:V103I;ENSP00000427625:V119I;ENSP00000329664:V119I;ENSP00000395809:V119I;ENSP00000352665:V119I;ENSP00000402677:V119I	ENSP00000329664:V119I	V	+	1	0	ATP2C1	132138992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.386000	0.73186	2.816000	0.96949	0.561000	0.74099	GTT		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		5	192	0	0	0	1	0	5	192					A	130656302	G	A	130656302	3	1	79	1	0	0	0	0	1	0	0	0	1144	1377	48	2	373	2	ATP2C1	3	130656302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201584	130656302	67366128	4613	14930											
ATP2C1	27032	broad.mit.edu	37	chr3	130675022	130675022	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttactcctttggtataatAggtaagagaagagtgagtat	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	277					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.e11+1		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						68	63	65					3																	130675022		2203	4300	6503	SO:0001630	splice_region_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130675022A>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.832+1A>C	3.37:g.130675022A>C						ATP2C1_ENST00000393221.4_Splice_Site_p.I311_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.I222_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.I277_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.I277_splice|ATP2C1_ENST00000422190.2_Splice_Site_p.I277_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.I277_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.I272_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.I261_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.I277_splice	p.I277_splice			P98194	AT2C1_HUMAN			11	1381	+			277					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Splice_Site	SNP	ENST00000510168.1	37	c.832_splice	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578922	0.46006	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9621	0.53015	0.8702:0.0:0.0:0.1298	.	.	.	.	S	231	.	.	X	+	2	0	ATP2C1	132157712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.428000	0.34892	2.250000	0.74265	0.533000	0.62120	TAG		0.338	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	Silent	52	170	0	0	0	1	0	52	170					C	130675022	A	C	130675022	5	2	79	1	0	0	0	0	0	0	1	0	1144	434	15	4	869	4	ATP2C1	3	130675022	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18720	130675022	67347408	4614	14931											
ATP2C1	27032	broad.mit.edu	37	chr3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattcgtaaacctcctcGcaactggaaagacagcattt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	764					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(2290-2292)cGc>cAc		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						144	146	146					3																	130716497		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130716497G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2291G>A	3.37:g.130716497G>A	ENSP00000427461:p.Arg764His					ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H	p.R764H			P98194	AT2C1_HUMAN			25	2841	+			764					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2291G>A	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566092|5.566092	0.96540|0.96540	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99217|0.99217	0.9728|0.9728	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|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	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98977|0.98977	1.0803|1.0803	5|10	.|0.72032	.|D	.|0.01	.|.	20.1991|20.1991	0.98252|0.98252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|798;759;798;764;798;764;764	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|H	718;282|748;709;748;798;759;764;764;748;748;764;764;764;764;763	.|ENSP00000423774:R748H;ENSP00000425320:R709H;ENSP00000421326:R748H;ENSP00000376914:R798H;ENSP00000432956:R759H;ENSP00000427461:R764H;ENSP00000424783:R764H;ENSP00000423330:R748H;ENSP00000422872:R748H;ENSP00000329664:R764H;ENSP00000395809:R764H;ENSP00000352665:R764H;ENSP00000402677:R764H	.|ENSP00000329664:R764H	A|R	+|+	1|2	0|0	ATP2C1|ATP2C1	132199187|132199187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.861000|9.861000	0.99562|0.99562	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.343	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		90	466	0	0	0	1	0	90	466					A	130716497	G	A	130716497	3	1	79	1	0	0	0	0	1	0	0	0	1144	1087	38	1	2385	1	ATP2C1	3	130716497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41475	130716497	67305933	4615	14932											
NEK11	79858	broad.mit.edu	37	chr3	130851590	130851590	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttgccttttgtaggAggatacttcatcgagactta	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000510769.1	+	5	710	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000429253.2_Splice_Site_p.R153G|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G|NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000511262.1_Splice_Site_p.R153G					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTTGTAGGAGGATACTTCA	0.274																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.e6-1		NIMA-related kinase 11							40	40	40					3																	130851590		2188	4259	6447	SO:0001630	splice_region_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130851590A>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.456-1A>G	3.37:g.130851590A>G						NEK11_ENST00000510769.1_Splice_Site_p.R153_splice|NEK11_ENST00000511262.1_Splice_Site_p.R153_splice|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Splice_Site_p.R153_splice|NEK11_ENST00000356918.4_Splice_Site_p.R153_splice|NEK11_ENST00000507910.1_Splice_Site_p.R153_splice|NEK11_ENST00000508196.1_Splice_Site_p.R153_splice|NEK11_ENST00000412440.2_Splice_Site_p.R5_splice|NEK11_ENST00000429253.2_Splice_Site_p.R153_splice	p.R153_splice	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			6	750	+			153			Protein kinase.			Splice_Site	SNP	ENST00000510769.1	37	c.455_splice		.	.	.	.	.	.	.	.	.	.	A	16.34	3.094369	0.56075	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;3.18;1.4;1.4	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236288	0.28964	N	0.013571	T	0.19087	0.0458	N	0.00885	-1.115	0.52099	D	0.999945	B;P;B;B;B;B;B	0.47762	0.242;0.9;0.304;0.284;0.096;0.117;0.02	B;P;B;B;B;B;B	0.47645	0.093;0.553;0.114;0.175;0.042;0.071;0.028	T	0.46005	-0.9222	10	0.62326	D	0.03	.	13.7638	0.62981	1.0:0.0:0.0:0.0	.	153;153;5;153;153;153;153	Q8NG66-3;E9PHI8;B4DDN2;B4DM56;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;.;NEK11_HUMAN;.	G	153;153;153;153;153;153;5;153;153	ENSP00000421549:R153G;ENSP00000397180:R153G;ENSP00000349389:R153G;ENSP00000423458:R153G;ENSP00000425114:R153G;ENSP00000372857:R153G;ENSP00000411888:R5G;ENSP00000426662:R153G;ENSP00000421851:R153G	ENSP00000349389:R153G	R	+	1	2	NEK11	132334280	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.431000	0.34925	2.202000	0.70862	0.528000	0.53228	AGG		0.274	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	Missense_Mutation	6	42	0	0	0	1	0	6	42					G	130851590	A	G	130851590	5	3	79	1	0	0	0	0	0	0	1	0	10365	318	11	4	471	4	NEK11	3	130851590	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	135093	130851590	67170840	4616	14933											
NEK11	79858	broad.mit.edu	37	chr3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatgaatcatgcattcGctggctccaatttcttatcc	7	12	2	1	rs547475674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000383366.4	+	8	990	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.A233P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358													G|||	3	0.000599042	0.0	0.0	5008	,	,		18012	0.0		0.0	False		,,,				2504	0.0031					ENST00000383366.4																			1	Substitution - Missense(1)	p.A233P(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(697-699)Gct>Act		NIMA-related kinase 11							103	107	106					3																	130871281		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130871281G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.697G>A	3.37:g.130871281G>A	ENSP00000372857:p.Ala233Thr					NEK11_ENST00000510769.1_Intron|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T	p.A233T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			8	990	+			233			Protein kinase.			Missense_Mutation	SNP	ENST00000383366.4	37	c.697G>A	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160429	0.06502	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.91	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.524667	0.17378	N	0.176402	T	0.27731	0.0682	N	0.05031	-0.125	0.26347	N	0.977277	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.001	T	0.25950	-1.0117	10	0.10377	T	0.69	.	4.8796	0.13672	0.4074:0.0:0.2913:0.3013	.	233;85;233;233;233	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	233;233;233;233;233;85;233;233	ENSP00000397180:A233T;ENSP00000349389:A233T;ENSP00000423458:A233T;ENSP00000425114:A233T;ENSP00000372857:A233T;ENSP00000411888:A85T;ENSP00000426662:A233T;ENSP00000421851:A233T	ENSP00000349389:A233T	A	+	1	0	NEK11	132353971	0.005000	0.15991	0.281000	0.24762	0.055000	0.15305	-0.415000	0.07106	-1.039000	0.03275	-0.787000	0.03339	GCT		0.358	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	NM_024800		114	438	0	0	0	1	0	114	438					A	130871281	G	A	130871281	3	1	79	1	0	0	0	0	1	0	0	0	10365	1087	38	1	719	1	NEK11	3	130871281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19691	130871281	67151149	4617	14934											
NEK11	79858	broad.mit.edu	37	chr3	130992362	130992362	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaagacatgtccccAggaccaccaattttcaacag	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000510769.1	+	13	1600	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1660-1662)ccA>ccC		NIMA-related kinase 11							155	117	130					3																	130992362		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130992362A>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1347A>C	3.37:g.130992362A>C						NEK11_ENST00000510769.1_Silent_p.P449P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000429253.2_Silent_p.P554P	p.P554P	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			17	1955	+			554						Silent	SNP	ENST00000510769.1	37	c.1662A>C																																																																																					0.483	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		35	201	0	0	0	1	0	35	201					C	130992362	A	C	130992362	2	2	79	1	0	0	0	0	0	0	0	1	10365	175	7	4		4	NEK11	3	130992362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121081	130992362	67030068	4618	14935											
NUDT16	131870	broad.mit.edu	37	chr3	131102014	131102014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttttacaggtgctgggCctggtgcgagtgcccctgta	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000521288.1	+	3	448	c.417C>T	c.(415-417)ggC>ggT	p.G139G	NUDT16_ENST00000502852.1_3'UTR|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Silent_p.G93G|NUDT16_ENST00000359850.3_Silent_p.G106G			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	139	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572																																						ENST00000359850.3																			0				large_intestine(1)|lung(6)	7						c.(316-318)ggC>ggT		nudix (nucleoside diphosphate linked moiety X)-type motif 16							92	90	90					3																	131102014		2203	4300	6503	SO:0001819	synonymous_variant	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131102014C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.417C>T	3.37:g.131102014C>T						NUDT16_ENST00000521288.1_Silent_p.G139G|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G	p.G106G	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN			3	457	+			139			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	ENST00000521288.1	37	c.318C>T	CCDS3070.2																																																																																				0.572	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		76	356	0	0	0	1	0	76	356					T	131102014	C	T	131102014	2	4	79	1	0	0	0	0	0	0	0	1	10774	726	26	2		2	NUDT16	3	131102014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109652	131102014	66920416	4619	14936											
CPNE4	131034	broad.mit.edu	37	chr3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatctgtcaggatcagcaGgatgaagtattgctgcagtc	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV	439	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGATCAGCAGGATGAAGTAT	0.552																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1315-1317)Ctg>Atg		copine IV							79	73	75					3																	131261625		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261625G>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1315C>A	3.37:g.131261625G>T	ENSP00000421705:p.Leu439Met					CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M	p.L439M			Q96A23	CPNE4_HUMAN			19	3441	-			439			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1315C>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537760	0.65085	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81807	-0.0763	10	0.87932	D	0	-12.4491	11.784	0.52032	0.1271:0.0:0.8729:0.0	.	457;439	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	439;439;457;439;457	ENSP00000421705:L439M;ENSP00000411904:L439M;ENSP00000424853:L457M;ENSP00000423811:L439M;ENSP00000421646:L457M	ENSP00000411904:L439M	L	-	1	2	CPNE4	132744315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.661000	0.61518	2.437000	0.82529	0.655000	0.94253	CTG		0.552	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		58	209	1	0	2.40265e-35	1	2.8676e-35	58	209					T	131261625	G	T	131261625	3	4	79	1	0	0	0	0	1	0	0	0	3823	991	35	3	366	3	CPNE4	3	131261625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159611	131261625	66760805	4620	14937											
CPNE4	131034	broad.mit.edu	37	chr3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtactctggaggtatcCtggcgccaaacccaaaggca	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M			Q96A23	CPNE4_HUMAN	copine IV	366	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGAGGTATCCTGGCGCCAAA	0.418																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1096-1098)aGg>aTg		copine IV							119	103	109					3																	131274360		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131274360C>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1097G>T	3.37:g.131274360C>A	ENSP00000421705:p.Arg366Met					CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M	p.R366M			Q96A23	CPNE4_HUMAN			16	3223	-			366			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1097G>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916781	0.73098	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.51	5.51	0.81932	von Willebrand factor, type A (1);Copine (1);	0.198870	0.53938	D	0.000053	T	0.55289	0.1911	M	0.90019	3.08	0.50313	D	0.999867	P;D	0.58268	0.745;0.982	P;P	0.56788	0.747;0.806	T	0.65582	-0.6133	10	0.87932	D	0	-26.6481	18.1887	0.89800	0.0:1.0:0.0:0.0	.	384;366	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	366;366;384;366;384	ENSP00000421705:R366M;ENSP00000411904:R366M;ENSP00000424853:R384M;ENSP00000423811:R366M;ENSP00000421646:R384M	ENSP00000411904:R366M	R	-	2	0	CPNE4	132757050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	2.580000	0.87095	0.655000	0.94253	AGG		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		22	106	1	0	1.10513e-12	1	1.18868e-12	22	106					A	131274360	C	A	131274360	3	1	79	1	0	0	0	0	1	0	0	0	3823	681	24	3	596	3	CPNE4	3	131274360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12735	131274360	66748070	4621	14938											
DNAJC13	23317	broad.mit.edu	37	chr3	132169692	132169692	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggatttagtagattgGtaagtactattttaaaaaaa	9	1	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.e6+1		DnaJ (Hsp40) homolog, subfamily C, member 13							36	41	39					3																	132169692		2202	4291	6493	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132169692G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.537+1G>A	3.37:g.132169692G>A						DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			6	785	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37		CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540277	0.85917	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133652382	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	54	229	0	0	0	1	0	54	229					A	132169692	G	A	132169692	5	1	79	1	0	0	0	0	0	0	1	0	4648	1275	44	2	556	2	DNAJC13	3	132169692	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895332	132169692	65852738	4622	14939											
DNAJC13	23317	broad.mit.edu	37	chr3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggaagaaccctttttaAactttttcaggtgagagctt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	568					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCCTTTTTAAACTTTTTCAG	0.393																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1702-1704)aAa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 13							128	127	127					3																	132180039		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132180039A>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1703A>C	3.37:g.132180039A>C	ENSP00000260818:p.Lys568Thr					DNAJC13_ENST00000486798.1_3'UTR	p.K568T	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			15	1951	+			568					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1703A>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324850	0.81580	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.77103	2.36	0.58432	D	0.999998	P;P	0.47302	0.893;0.759	B;B	0.43536	0.423;0.202	T	0.54563	-0.8275	10	0.62326	D	0.03	.	15.7657	0.78126	1.0:0.0:0.0:0.0	.	568;568	A7E2Y5;O75165	.;DJC13_HUMAN	T	568	ENSP00000260818:K568T	ENSP00000260818:K568T	K	+	2	0	DNAJC13	133662729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.187000	0.69744	0.460000	0.39030	AAA		0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		78	362	0	0	0	1	0	78	362					C	132180039	A	C	132180039	3	2	79	1	0	0	0	0	1	0	0	0	4648	14	1	4	1757	4	DNAJC13	3	132180039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10347	132180039	65842391	4623	14940											
ACAD11	84129	broad.mit.edu	37	chr3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttcgtcaggtccatctgCtaaacgcaaaactcgggtta	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S|ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	753					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTCCATCTGCTAAACGCAAA	0.458																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(2257-2259)Gca>Tca		acyl-CoA dehydrogenase family, member 11							118	104	109					3																	132277901		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132277901C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2257G>T	3.37:g.132277901C>A	ENSP00000264990:p.Ala753Ser					ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S|ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S	p.A753S	NM_032169.4	NP_115545.3					20	3228	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.2257G>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972384	0.74246	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96168	-3.93;-3.93;-3.93	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98485	0.9495	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99282	1.0896	9	0.59425	D	0.04	.	17.9556	0.89068	0.0:1.0:0.0:0.0	.	753	Q709F0	ACD11_HUMAN	S	649;753;278	ENSP00000347636:A649S;ENSP00000264990:A753S;ENSP00000446263:A278S	ENSP00000264990:A753S	A	-	1	0	ACAD11	133760591	1.000000	0.71417	0.961000	0.40146	0.087000	0.18053	6.602000	0.74141	2.537000	0.85549	0.655000	0.94253	GCA		0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		58	201	1	0	8.72158e-25	1	9.98758e-25	58	201					A	132277901	C	A	132277901	3	1	79	1	0	0	0	0	1	0	0	0	109	797	28	3	89	3	ACAD11	3	132277901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97862	132277901	65744529	4624	14941											
ACAD11	84129	broad.mit.edu	37	chr3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgcaaagcgcgttccGccaaacctactgttctcata	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	643					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AGCGCGTTCCGCCAAACCTAC	0.463																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(1927-1929)gCg>gTg		acyl-CoA dehydrogenase family, member 11							107	100	102					3																	132294689		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132294689G>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1928C>T	3.37:g.132294689G>A	ENSP00000264990:p.Ala643Val					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V	p.A643V	NM_032169.4	NP_115545.3					17	2899	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1928C>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493939	0.96339	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.97186	-4.28;-4.28	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98748	0.9579	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	9	0.87932	D	0	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	643	Q709F0	ACD11_HUMAN	V	643;168	ENSP00000264990:A643V;ENSP00000446263:A168V	ENSP00000264990:A643V	A	-	2	0	ACAD11	133777379	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	9.033000	0.93741	2.615000	0.88500	0.591000	0.81541	GCG		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		73	277	0	0	0	1	0	73	277					A	132294689	G	A	132294689	3	1	79	1	0	0	0	0	1	0	0	0	109	1087	38	1	430	1	ACAD11	3	132294689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16788	132294689	65727741	4625	14942											
CCRL1	51554	broad.mit.edu	37	chr3	132320091	132320091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaaacgcatggacatcGccatccaagtcacagaaagc	9	12	1	2	rs139794831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132320091G>A	ENST00000249887.2	+	2	946	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	284					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)										CATGGACATCGCCATCCAAGT	0.443																																						ENST00000249887.2																			0											c.(850-852)Gcc>Acc		atypical chemokine receptor 4		G	THR/ALA,,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	175	171	172		850,,850	5.6	1	3	dbSNP_134	172	0,8596		0,0,4298	no	missense,intron,missense	CCRL1,ACAD11	NM_016557.2,NM_032169.4,NM_178445.1	58,,58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	284/351,,284/351	132320091	1,12999	2202	4298	6500	SO:0001583	missense	51554							g.chr3:132320091G>A	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	ENST00000249887.2:c.850G>A	3.37:g.132320091G>A	ENSP00000249887:p.Ala284Thr					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	p.A284T	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	946	+								B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.850G>A	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218322	0.79464	2.27E-4	0.0	ENSG00000129048	ENST00000249887	T	0.38401	1.14	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.108734	0.64402	D	0.000006	T	0.57636	0.2067	M	0.73598	2.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.72625	0.978	T	0.55244	-0.8171	10	0.36615	T	0.2	.	12.8238	0.57708	0.0745:0.0:0.9255:0.0	.	284	Q9NPB9	CCRL1_HUMAN	T	284	ENSP00000249887:A284T	ENSP00000249887:A284T	A	+	1	0	CCRL1	133802781	1.000000	0.71417	0.965000	0.40720	0.799000	0.45148	8.061000	0.89467	2.640000	0.89533	0.655000	0.94253	GCC		0.443	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		143	1426	0	0	0	1	0	143	1426					A	132320091	G	A	132320091	3	1	79	1	0	0	0	0	1	0	0	0	2958	1087	38	1	852	1	CCRL1	3	132320091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25402	132320091	65702339	4626	14943											
ACAD11	84129	broad.mit.edu	37	chr3	132358437	132358437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattagccactccgataGctgttgcatggcagggatgt	11	10	1	0	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	201					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CACTCCGATAGCTGTTGCATG	0.388																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(601-603)Cta>Tta		acyl-CoA dehydrogenase family, member 11		G		0,4406		0,0,2203	85	82	83		601	4	0.6	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACAD11	NM_032169.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		201/781	132358437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84129							g.chr3:132358437G>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.601C>T	3.37:g.132358437G>A						ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000545291.1_5'UTR	p.L201L	NM_032169.4	NP_115545.3					5	1572	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	c.601C>T	CCDS3074.1																																																																																				0.388	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		47	216	0	0	0	1	0	47	216					A	132358437	G	A	132358437	2	1	79	1	0	0	0	0	0	0	0	1	109	962	34	2		2	ACAD11	3	132358437	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38346	132358437	65663993	4627	14944											
UBA5	79876	broad.mit.edu	37	chr3	132394147	132394147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggatacaatgcaatgcagGatttttttcctactatgtcc	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132394147G>T	ENST00000356232.4	+	9	1940	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y|UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	290					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCAATGCAGGATTTTTTTCC	0.323																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(868-870)Gat>Tat		ubiquitin-like modifier activating enzyme 5							80	78	78					3																	132394147		2203	4300	6503	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394147G>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.868G>T	3.37:g.132394147G>T	ENSP00000348565:p.Asp290Tyr					UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y	p.D290Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			9	1940	+			290					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.868G>T	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745354	0.89663	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.091169	0.64402	D	0.000001	T	0.69070	0.3070	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76293	-0.3012	10	0.54805	T	0.06	-31.1863	19.994	0.97377	0.0:0.0:1.0:0.0	.	290;290	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Y	234;290;290;290;234	ENSP00000264991:D234Y;ENSP00000348565:D290Y;ENSP00000417879:D290Y;ENSP00000424984:D290Y;ENSP00000418807:D234Y	ENSP00000264991:D234Y	D	+	1	0	UBA5	133876837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.716000	0.92895	0.591000	0.81541	GAT		0.323	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		11	282	1	0	5.16669e-11	1	5.49905e-11	11	282					T	132394147	G	T	132394147	3	4	79	1	0	0	0	0	1	0	0	0	16884	1174	41	3	902	3	UBA5	3	132394147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35710	132394147	65628283	4628	14945											
NPHP3	27031	broad.mit.edu	37	chr3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacagaacatcaccaAaatcatcttcttctggaatg	5	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000337331.5	-	9	1516	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	477					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1429-1431)tTt>tGt		nephronophthisis 3 (adolescent)							258	266	263					3																	132423136		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423136A>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1430T>G	3.37:g.132423136A>C	ENSP00000338766:p.Phe477Cys					NPHP3_ENST00000337331.5_Missense_Mutation_p.F477C	p.F477C			Q7Z494	NPHP3_HUMAN			9	1506	-			477					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1430T>G	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246680	0.59103	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91577	-2.87;-2.75	5.77	1.57	0.23409	.	0.342467	0.35151	N	0.003406	D	0.82861	0.5129	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.73023	-0.4113	10	0.34782	T	0.22	-13.3143	6.0096	0.19567	0.7074:0.0:0.1372:0.1554	.	477	Q7Z494	NPHP3_HUMAN	C	477	ENSP00000319909:F477C;ENSP00000338766:F477C	ENSP00000319909:F477C	F	-	2	0	NPHP3	133905826	0.997000	0.39634	0.333000	0.25482	0.987000	0.75469	2.987000	0.49378	0.548000	0.28955	0.533000	0.62120	TTT		0.413	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		240	1054	0	0	0	1	0	240	1054					C	132423136	A	C	132423136	3	2	79	1	0	0	0	0	1	0	0	0	10622	14	1	4	2638	4	NPHP3	3	132423136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28989	132423136	65599294	4629	14946											
BFSP2	8419	broad.mit.edu	37	chr3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggacttgcccaccagtGccagctccagcatgcccctc	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	14	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(40-42)Gcc>Acc		beaded filament structural protein 2, phakinin							81	96	91					3																	133118967		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133118967G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.40G>A	3.37:g.133118967G>A	ENSP00000304987:p.Ala14Thr						p.A14T	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	129	+			14			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.40G>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402705	0.25291	.	.	ENSG00000170819	ENST00000302334	D	0.83250	-1.7	5.28	-8.74	0.00838	.	1.046730	0.07509	N	0.908564	T	0.62974	0.2472	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	10	0.30854	T	0.27	-0.3133	0.5744	0.00701	0.3791:0.1489:0.203:0.269	.	14	Q13515	BFSP2_HUMAN	T	14	ENSP00000304987:A14T	ENSP00000304987:A14T	A	+	1	0	BFSP2	134601657	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-1.234000	0.02931	-1.352000	0.02194	-0.379000	0.06801	GCC		0.617	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			98	447	0	0	0	1	0	98	447					A	133118967	G	A	133118967	3	1	79	1	0	0	0	0	1	0	0	0	1418	1319	46	2	42	2	BFSP2	3	133118967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695831	133118967	64903463	4630	14947											
BFSP2	8419	broad.mit.edu	37	chr3	133119358	133119358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcacctggagagcaaagCcacacgctcgggaaactggg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	ENST00000302334.2	+	1	520	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	144	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGCAAAGCCACACGCTCG	0.612																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(430-432)gCc>gAc		beaded filament structural protein 2, phakinin							30	36	34					3																	133119358		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119358C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.431C>A	3.37:g.133119358C>A	ENSP00000304987:p.Ala144Asp						p.A144D	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	520	+			144			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.431C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251923	0.80135	.	.	ENSG00000170819	ENST00000302334	D	0.89343	-2.5	5.84	4.96	0.65561	Filament (1);	0.201932	0.34906	N	0.003600	D	0.90920	0.7146	L	0.47190	1.495	0.43766	D	0.996284	D	0.58620	0.983	P	0.61658	0.892	D	0.88294	0.2945	10	0.16896	T	0.51	-15.2148	16.8975	0.86104	0.0:0.8717:0.1283:0.0	.	144	Q13515	BFSP2_HUMAN	D	144	ENSP00000304987:A144D	ENSP00000304987:A144D	A	+	2	0	BFSP2	134602048	1.000000	0.71417	0.203000	0.23512	0.944000	0.59088	6.969000	0.76092	1.454000	0.47793	0.563000	0.77884	GCC		0.612	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			42	162	1	0	8.69298e-16	1	9.51602e-16	42	162					A	133119358	C	A	133119358	3	1	79	1	0	0	0	0	1	0	0	0	1418	739	26	3	433	3	BFSP2	3	133119358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	391	133119358	64903072	4631	14948											
TOPBP1	11073	broad.mit.edu	37	chr3	133320197	133320197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattctgaataaatgaaataGcttctggtagacagtaattt	7	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	ENST00000260810.5	-	28	4597	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1489					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)			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						AAATGAAATAGCTTCTGGTAG	0.313								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				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						c.(4465-4467)gCt>gTt	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							41	36	38					3																	133320197		1787	4047	5834	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133320197G>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.4466C>T	3.37:g.133320197G>A	ENSP00000260810:p.Ala1489Val						p.A1489V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			28	4597	-			1489					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4466C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032347	0.75504	.	.	ENSG00000163781	ENST00000260810	T	0.13657	2.57	5.6	5.6	0.85130	.	0.098068	0.64402	D	0.000001	T	0.13927	0.0337	L	0.48642	1.525	0.58432	D	0.999997	P	0.46987	0.888	B	0.33568	0.166	T	0.02617	-1.1133	10	0.49607	T	0.09	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	1489	Q92547	TOPB1_HUMAN	V	1489	ENSP00000260810:A1489V	ENSP00000260810:A1489V	A	-	2	0	TOPBP1	134802887	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	6.952000	0.75989	2.627000	0.88993	0.655000	0.94253	GCT		0.313	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		20	53	0	0	0	1	0	20	53					A	133320197	G	A	133320197	3	1	79	1	0	0	0	0	1	0	0	0	16422	971	34	2	106	2	TOPBP1	3	133320197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200839	133320197	64702233	4632	14949											
TOPBP1	11073	broad.mit.edu	37	chr3	133337217	133337217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtagggtcatcccaAatgatctgttcattttggga	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1144					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)			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						GGTCATCCCAAATGATCTGTT	0.458								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				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						c.(3430-3432)atT>atC	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							158	152	154					3																	133337217		1950	4160	6110	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133337217A>G	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.3432T>C	3.37:g.133337217A>G							p.I1144I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			21	3563	-			1144					B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.3432T>C	CCDS46919.1																																																																																				0.458	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		126	465	0	0	0	1	0	126	465					G	133337217	A	G	133337217	2	3	79	1	0	0	0	0	0	0	0	1	16422	10	1	4		4	TOPBP1	3	133337217	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17020	133337217	64685213	4633	14950											
TOPBP1	11073	broad.mit.edu	37	chr3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttccatttgatggtgCtgactctttattattggtgg	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1047					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)			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						TTTGATGGTGCTGACTCTTTA	0.274								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				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						c.(3139-3141)Gca>Aca	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							43	39	40					3																	133341974		1803	4060	5863	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133341974C>T	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.3139G>A	3.37:g.133341974C>T	ENSP00000260810:p.Ala1047Thr						p.A1047T	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			19	3270	-			1047					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3139G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779765	0.02929	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.6	2.83	0.33086	.	0.688503	0.15591	N	0.254401	T	0.08537	0.0212	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.43718	-0.9374	10	0.12430	T	0.62	.	6.0027	0.19529	0.0:0.6363:0.1375:0.2262	.	960;1047	A0AV47;Q92547	.;TOPB1_HUMAN	T	1047	ENSP00000260810:A1047T	ENSP00000260810:A1047T	A	-	1	0	TOPBP1	134824664	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.298000	0.19120	0.300000	0.22699	0.650000	0.86243	GCA		0.274	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		23	179	0	0	0	1	0	23	179					T	133341974	C	T	133341974	3	4	79	1	0	0	0	0	1	0	0	0	16422	797	28	2	1469	2	TOPBP1	3	133341974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4757	133341974	64680456	4634	14951											
TOPBP1	11073	broad.mit.edu	37	chr3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttatccaagagggaaGcaaaataggtttcttcaggt	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	168	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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)			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						CAAGAGGGAAGCAAAATAGGT	0.323								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				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						c.(502-504)Ctt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							107	104	105					3																	133375563		1823	4088	5911	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133375563G>T	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.502C>A	3.37:g.133375563G>T	ENSP00000260810:p.Leu168Ile					TOPBP1_ENST00000511439.1_5'UTR	p.L168I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			5	633	-			168			BRCT 1.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.502C>A	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195804|4.195804	0.78902|0.78902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000508524|ENST00000260810	.|T	.|0.79247	.|-1.25	5.33|5.33	5.33|5.33	0.75918|0.75918	.|BRCT (4);	.|0.071226	.|0.56097	.|D	.|0.000021	.|D	.|0.87071	.|0.6086	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.71674	.|0.998	.|D	.|0.68765	.|0.96	.|D	.|0.85799	.|0.1372	.|10	.|0.37606	.|T	.|0.19	.|.	19.0309|19.0309	0.92957|0.92957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|Q92547	.|TOPB1_HUMAN	X|I	12|168	.|ENSP00000260810:L168I	.|ENSP00000260810:L168I	C|L	-|-	3|1	2|0	TOPBP1|TOPBP1	134858253|134858253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	TGC|CTT		0.323	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		87	372	1	0	1.17611e-34	1	1.40019e-34	87	372					T	133375563	G	T	133375563	3	4	79	1	0	0	0	0	1	0	0	0	16422	971	34	3	4162	3	TOPBP1	3	133375563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33589	133375563	64646867	4635	14952											
RAB6B	51560	broad.mit.edu	37	chr3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtttgtccagcttgatgtCgatcactgcagggggacggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	190					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602																																						ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(568-570)Gac>Aac		RAB6B, member RAS oncogene family							113	124	120					3																	133547691		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133547691C>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.568G>A	3.37:g.133547691C>T	ENSP00000285208:p.Asp190Asn					RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N	p.D190N	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			8	917	-			190					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.568G>A	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945765	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;B	0.22541	0.03;0.071	B;B	0.17098	0.014;0.017	T	0.33548	-0.9864	10	0.36615	T	0.2	-26.509	19.1662	0.93559	0.0:1.0:0.0:0.0	.	177;190	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	190;190;177	ENSP00000285208:D190N;ENSP00000437797:D190N;ENSP00000419381:D177N	ENSP00000285208:D190N	D	-	1	0	RAB6B	135030381	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.380000	0.59581	2.831000	0.97527	0.561000	0.74099	GAC		0.602	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			206	937	0	0	0	1	0	206	937					T	133547691	C	T	133547691	3	4	79	1	0	0	0	0	1	0	0	0	13002	884	31	1	62	1	RAB6B	3	133547691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172128	133547691	64474739	4636	14953											
SLCO2A1	6578	broad.mit.edu	37	chr3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtcatagtaggcgcagGcccctcgcctccccaagcac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000310926.4	-	13	2051	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	593					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTAGGCGCAGGCCCCTCGCCT	0.597																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1777-1779)gCc>gTc		solute carrier organic anion transporter family, member 2A1							77	65	69					3																	133654654		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133654654G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1778C>T	3.37:g.133654654G>A	ENSP00000311291:p.Ala593Val					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	p.A593V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			13	2051	-			593					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1778C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522622	0.04141	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205268	0.50627	D	0.000101	T	0.56790	0.2009	M	0.78344	2.41	0.45704	D	0.998616	D;D	0.59767	0.978;0.986	P;P	0.58077	0.832;0.765	T	0.52041	-0.8628	10	0.14656	T	0.56	.	13.5921	0.61966	0.076:0.0:0.924:0.0	.	517;593	E7EU40;Q92959	.;SO2A1_HUMAN	V	593;517	ENSP00000311291:A593V;ENSP00000418893:A517V	ENSP00000311291:A593V	A	-	2	0	SLCO2A1	135137344	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.218000	0.58554	2.802000	0.96397	0.561000	0.74099	GCC		0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		26	138	0	0	0	1	0	26	138					A	133654654	G	A	133654654	3	1	79	1	0	0	0	0	1	0	0	0	14776	1203	42	2	161	2	SLCO2A1	3	133654654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106963	133654654	64367776	4637	14954											
SLCO2A1	6578	broad.mit.edu	37	chr3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagctcggcctgcaagcGgctgttgttccctgcaacga	13	13	0	1	rs201131796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000310926.4	-	4	682	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_ENST00000493729.1_Intron|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCTGCAAGCGGCTGTTGTTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.001	False		,,,				2504	0.0					ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(409-411)Cgc>Tgc		solute carrier organic anion transporter family, member 2A1							42	42	42					3																	133674026		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133674026G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.409C>T	3.37:g.133674026G>A	ENSP00000311291:p.Arg137Cys					SLCO2A1_ENST00000493729.1_Intron	p.R137C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			4	682	-			137					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.409C>T	CCDS3084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.88	1.770573	0.31320	.	.	ENSG00000174640	ENST00000310926	T	0.39997	1.05	5.5	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.24122	0.0584	N	0.02539	-0.55	0.24042	N	0.996072	P	0.52170	0.951	P	0.47645	0.553	T	0.07751	-1.0756	10	0.56958	D	0.05	.	4.404	0.11400	0.0672:0.2301:0.3555:0.3473	.	137	Q92959	SO2A1_HUMAN	C	137	ENSP00000311291:R137C	ENSP00000311291:R137C	R	-	1	0	SLCO2A1	135156716	0.022000	0.18835	0.035000	0.18076	0.028000	0.11728	0.087000	0.14958	-0.253000	0.09514	-0.502000	0.04539	CGC		0.632	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		42	161	0	0	0	1	0	42	161					A	133674026	G	A	133674026	3	1	79	1	0	0	0	0	1	0	0	0	14776	1116	39	1	1566	1	SLCO2A1	3	133674026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19372	133674026	64348404	4638	14955											
AMOTL2	51421	broad.mit.edu	37	chr3	134080624	134080624	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccatctctcgctccagcttCtcttgctcctgctgctgttc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	ENST00000422605.2	-	6	1471	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000514516.1_Silent_p.E493E|AMOTL2_ENST00000513145.1_Silent_p.E435E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	435					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCAGCTTCTCTTGCTCCT	0.652																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1477-1479)gaG>gaA		angiomotin like 2							12	12	12					3																	134080624		2179	4270	6449	SO:0001819	synonymous_variant	51421							g.chr3:134080624C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1305G>A	3.37:g.134080624C>T						AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000422605.2_Silent_p.E435E|AMOTL2_ENST00000513145.1_Silent_p.E435E	p.E493E	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			6	1657	-			435					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.1479G>A																																																																																					0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		11	50	0	0	0	1	0	11	50					T	134080624	C	T	134080624	2	4	79	1	0	0	0	0	0	0	0	1	584	912	32	2		2	AMOTL2	3	134080624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406598	134080624	63941806	4639	14956											
AMOTL2	51421	broad.mit.edu	37	chr3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgagcaagcagcttggCcaccatgtcctgactgccgg	11	14	1	2	rs183770550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000422605.2	-	5	1427	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0					ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1435-1437)Gcc>Acc		angiomotin like 2							92	89	90					3																	134084677		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134084677C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1261G>A	3.37:g.134084677C>T	ENSP00000409999:p.Ala421Thr					AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.A421T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T	p.A479T	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			5	1613	-			421					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1435G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.6	4.311178	0.81358	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.123656	0.56097	D	0.000030	T	0.31702	0.0805	L	0.52573	1.65	0.58432	D	0.99999	D;D;D	0.56521	0.975;0.975;0.976	P;P;P	0.49799	0.591;0.591;0.622	T	0.01904	-1.1250	10	0.39692	T	0.17	-17.4922	12.9886	0.58606	0.1614:0.8386:0.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	421;421;479;421	ENSP00000249883:A421T;ENSP00000409999:A421T;ENSP00000424765:A479T;ENSP00000425475:A421T	ENSP00000249883:A421T	A	-	1	0	AMOTL2	135567367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.032000	0.64140	2.465000	0.83290	0.455000	0.32223	GCC		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		80	429	0	0	0	1	0	80	429					T	134084677	C	T	134084677	3	4	79	1	0	0	0	0	1	0	0	0	584	739	26	2	1105	2	AMOTL2	3	134084677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	134084677	63937753	4640	14957											
CEP63	80254	broad.mit.edu	37	chr3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctgaatgggaaggacGtacacatgctctagaaactt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000383229.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	46					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(136-138)cGt>cAt		centrosomal protein 63kDa							125	123	123					3																	134226043		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134226043G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.137G>A	3.37:g.134226043G>A	ENSP00000336524:p.Arg46His					CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H	p.R46H			Q96MT8	CEP63_HUMAN			3	310	+			46					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.137G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993294	0.54041	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.24538	1.93;1.93;1.93;1.93;1.93;1.85;1.93	5.25	2.9	0.33743	.	0.127443	0.53938	D	0.000052	T	0.11367	0.0277	N	0.08118	0	0.21499	N	0.999661	P;P;B;P	0.50272	0.916;0.933;0.098;0.567	B;B;B;B	0.38428	0.273;0.265;0.04;0.102	T	0.11012	-1.0605	10	0.72032	D	0.01	-7.3674	8.4607	0.32925	0.835:0.0:0.165:0.0	.	46;46;46;46	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	46	ENSP00000328382:R46H;ENSP00000346432:R46H;ENSP00000424626:R46H;ENSP00000336524:R46H;ENSP00000372716:R46H;ENSP00000423225:R46H;ENSP00000426129:R46H	ENSP00000328382:R46H	R	+	2	0	CEP63	135708733	1.000000	0.71417	0.983000	0.44433	0.840000	0.47671	4.443000	0.59994	0.416000	0.25844	-0.302000	0.09304	CGT		0.388	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		81	331	0	0	0	1	0	81	331					A	134226043	G	A	134226043	3	1	79	1	0	0	0	0	1	0	0	0	3266	1145	40	1	143	1	CEP63	3	134226043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141366	134226043	63796387	4641	14958											
KY	339855	broad.mit.edu	37	chr3	134322952	134322952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattaatgccctcctccacGctgaagctgatggagcagcg	10	13	0	2	rs200535303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000423778.2	-	11	1516	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S464S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	485					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0					ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1390-1392)agC>agT		kyphoscoliosis peptidase		G		1,4129		0,1,2064	26	28	27		1455	-8	0.7	3		27	0,8390		0,0,4195	no	coding-synonymous	KY	NM_178554.4		0,1,6259	AA,AG,GG		0.0,0.0242,0.0080		485/662	134322952	1,12519	2065	4195	6260	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322952G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1455C>T	3.37:g.134322952G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S485S	p.S464S			Q8NBH2	KY_HUMAN			10	1449	-			485					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1392C>T	CCDS46920.1																																																																																				0.622	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		20	94	0	0	0	1	0	20	94					A	134322952	G	A	134322952	2	1	79	1	0	0	0	0	0	0	0	1	8617	1078	38	1		1	KY	3	134322952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96909	134322952	63699478	4642	14959											
KY	339855	broad.mit.edu	37	chr3	134322979	134322979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggagcagcgcccgtcGctggtgtggatgatagggtc	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000423778.2	-	11	1489	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S455S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	476					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1363-1365)agC>agT		kyphoscoliosis peptidase							24	27	26					3																	134322979		2071	4182	6253	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322979G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1428C>T	3.37:g.134322979G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S476S	p.S455S			Q8NBH2	KY_HUMAN			10	1422	-			476					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1365C>T	CCDS46920.1																																																																																				0.632	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		10	88	0	0	0	1	0	10	88					A	134322979	G	A	134322979	2	1	79	1	0	0	0	0	0	0	0	1	8617	1078	38	1		1	KY	3	134322979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	134322979	63699451	4643	14960											
KY	339855	broad.mit.edu	37	chr3	134362215	134362215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctgcttctccaccaAgttttctatttaaggaagac	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	69					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547																																						ENST00000423778.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(205-207)Ttg>Ctg		kyphoscoliosis peptidase							70	79	77					3																	134362215		1948	4136	6084	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134362215A>G	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.205T>C	3.37:g.134362215A>G						KY_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	p.L69L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN			3	266	-			69					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.205T>C	CCDS46920.1																																																																																				0.547	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		31	130	0	0	0	1	0	31	130					G	134362215	A	G	134362215	2	3	79	1	0	0	0	0	0	0	0	1	8617	69	3	4		4	KY	3	134362215	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39236	134362215	63660215	4644	14961											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttacaaattccagtagCcaggaagagatagataaatt	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	505					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCCAGTAGCCAGGAAGAGA	0.343																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1513-1515)agC>agA		protein phosphatase 2, regulatory subunit B'', alpha							50	55	53					3																	135721855		2199	4294	6493	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721855C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1515C>A	3.37:g.135721855C>A	ENSP00000264977:p.Ser505Arg					PPP2R3A_ENST00000490467.1_Intron	p.S505R	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2132	+			505					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1515C>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534559	0.04082	.	.	ENSG00000073711	ENST00000264977	T	0.05513	3.43	5.29	1.53	0.23141	.	0.437967	0.27627	N	0.018532	T	0.05090	0.0136	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37596	-0.9699	10	0.35671	T	0.21	.	7.1396	0.25548	0.0:0.4198:0.0:0.5802	.	505	Q06190	P2R3A_HUMAN	R	505	ENSP00000264977:S505R	ENSP00000264977:S505R	S	+	3	2	PPP2R3A	137204545	1.000000	0.71417	0.992000	0.48379	0.335000	0.28730	0.642000	0.24735	0.373000	0.24621	0.563000	0.77884	AGC		0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		71	312	1	0	6.5469e-37	1	7.85029e-37	71	312					A	135721855	C	A	135721855	3	1	79	1	0	0	0	0	1	0	0	0	12435	738	26	3	1517	3	PPP2R3A	3	135721855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359640	135721855	62300575	4645	14962											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttcctcccaggccaatTtatcagtctgtagaagtcct	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	637					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGCCAATTTATCAGTCTG	0.418																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1909-1911)Tta>Gta		protein phosphatase 2, regulatory subunit B'', alpha							85	81	82					3																	135722249		2202	4300	6502	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722249T>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1909T>G	3.37:g.135722249T>G	ENSP00000264977:p.Leu637Val					PPP2R3A_ENST00000490467.1_Intron	p.L637V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2526	+			637					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1909T>G	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	0.428	-0.904797	0.02453	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.57	-1.4	0.08968	.	1.303650	0.05116	N	0.489740	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.19147	T	0.46	.	0.2744	0.00236	0.2782:0.1742:0.286:0.2616	.	637	Q06190	P2R3A_HUMAN	V	637	ENSP00000264977:L637V	ENSP00000264977:L637V	L	+	1	2	PPP2R3A	137204939	0.000000	0.05858	0.507000	0.27676	0.939000	0.58152	-0.008000	0.12788	-0.146000	0.11274	0.460000	0.39030	TTA		0.418	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		78	333	0	0	0	1	0	78	333					G	135722249	T	G	135722249	3	3	79	1	0	0	0	0	1	0	0	0	12435	1838	64	4	1911	4	PPP2R3A	3	135722249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	394	135722249	62300181	4646	14963											
PPP2R3A	5523	broad.mit.edu	37	chr3	135741936	135741936	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcaaggaaacatctctaCgaagggacccggatttaagg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135741936C>T	ENST00000264977.3	+	3	2612				PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000334546.2_Nonsense_Mutation_p.R9*	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACATCTCTACGAAGGGACCC	0.433																																						ENST00000334546.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(25-27)Cga>Tga		protein phosphatase 2, regulatory subunit B'', alpha							130	130	130					3																	135741936		2203	4300	6503	SO:0001627	intron_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135741936C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1996-3738C>T	3.37:g.135741936C>T						PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	p.R9*	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN			1	360	+			0					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Nonsense_Mutation	SNP	ENST00000264977.3	37	c.25C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	40	8.049605	0.98629	.	.	ENSG00000073711	ENST00000334546	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4805	0.67579	0.1467:0.8533:0.0:0.0	.	.	.	.	X	9	.	ENSP00000334748:R9X	R	+	1	2	PPP2R3A	137224626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.390000	0.52523	2.885000	0.99019	0.655000	0.94253	CGA		0.433	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		72	328	0	0	0	1	0	72	328					T	135741936	C	T	135741936	1	4	79	0	1	0	0	0	0	0	0	0	12435	528	19	1		1	PPP2R3A	3	135741936	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19687	135741936	62280494	4647	14964											
PPP2R3A	5523	broad.mit.edu	37	chr3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagagagatccctttgCggtccagaaggtaacagtat	11	8	0	4	rs200412700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1071					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCCTTTGCGGTCCAGAAG	0.413																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3211-3213)gCg>gTg		protein phosphatase 2, regulatory subunit B'', alpha							81	79	79					3																	135822208		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135822208C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3212C>T	3.37:g.135822208C>T	ENSP00000264977:p.Ala1071Val					PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V	p.A1071V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			12	3829	+			1071					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3212C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928315	0.92389	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.25414	3.19;1.8;2.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.62382	0.796;0.901	T	0.18524	-1.0334	10	0.51188	T	0.08	.	18.4735	0.90783	0.0:1.0:0.0:0.0	.	450;1071	Q06190-2;Q06190	.;P2R3A_HUMAN	V	1071;335;450	ENSP00000264977:A1071V;ENSP00000419344:A335V;ENSP00000334748:A450V	ENSP00000264977:A1071V	A	+	2	0	PPP2R3A	137304898	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.776000	0.85560	2.677000	0.91161	0.561000	0.74099	GCG		0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		63	236	0	0	0	1	0	63	236					T	135822208	C	T	135822208	3	4	79	1	0	0	0	0	1	0	0	0	12435	768	27	1	3390	1	PPP2R3A	3	135822208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80272	135822208	62200222	4648	14965											
MSL2	55167	broad.mit.edu	37	chr3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgctgattttaggtGttgtgcctccattgggaaca	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	394					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1180-1182)aCa>aTa		male-specific lethal 2 homolog (Drosophila)							152	151	151					3																	135870542		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870542G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1181C>T	3.37:g.135870542G>A	ENSP00000311827:p.Thr394Ile					MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	p.T394I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1913	-			394					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1181C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338085	0.11013	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.84	4.06	0.47325	.	0.408916	0.26796	N	0.022447	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14531	-1.0469	9	0.19590	T	0.45	-1.9985	11.9761	0.53091	0.14:0.0:0.86:0.0	.	394	Q9HCI7	MSL2_HUMAN	I	394;320	.	ENSP00000311827:T394I	T	-	2	0	MSL2	137353232	0.998000	0.40836	0.016000	0.15963	0.876000	0.50452	5.843000	0.69424	0.818000	0.34468	0.551000	0.68910	ACA		0.428	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		91	389	0	0	0	1	0	91	389					A	135870542	G	A	135870542	3	1	79	1	0	0	0	0	1	0	0	0	9919	1377	48	2	556	2	MSL2	3	135870542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48334	135870542	62151888	4649	14966											
STAG1	10274	broad.mit.edu	37	chr3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctatcatcttcacccccaGtgactaatgaatttctatag	4	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000383202.2	-	29	3417	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1054					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACCCCCAGTGACTAATGA	0.418																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3160-3162)aCt>aTt		stromal antigen 1							130	118	122					3																	136068110		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136068110G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3161C>T	3.37:g.136068110G>A	ENSP00000372689:p.Thr1054Ile					STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	p.T1054I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			29	3417	-			1054					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3161C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073453	0.76415	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31510	1.9;1.9;1.9;1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.40543	1.245	0.80722	D	1	B;B	0.26708	0.007;0.157	B;B	0.22601	0.009;0.04	T	0.02064	-1.1220	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1054;1054	Q6P275;Q8WVM7	.;STAG1_HUMAN	I	1054;1054;794;638	ENSP00000372689:T1054I;ENSP00000236698:T1054I;ENSP00000404396:T794I;ENSP00000445787:T638I	ENSP00000236698:T1054I	T	-	2	0	STAG1	137550800	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		0.418	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		100	367	0	0	0	1	0	100	367					A	136068110	G	A	136068110	3	1	79	1	0	0	0	0	1	0	0	0	15294	1029	36	2	639	2	STAG1	3	136068110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197568	136068110	61954320	4650	14967											
STAG1	10274	broad.mit.edu	37	chr3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgttgcaaactgagaAtgagagtcttggcacactga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000383202.2	-	26	3027	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000434713.2_Intron	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	924					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAAACTGAGAATGAGAGTCTT	0.358																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2770-2772)aTt>aCt		stromal antigen 1							156	149	151					3																	136082224		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136082224A>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2771T>C	3.37:g.136082224A>G	ENSP00000372689:p.Ile924Thr					STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000434713.2_Intron	p.I924T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			26	3027	-			924					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2771T>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144665	0.77888	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.33865	1.8;1.83;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.786	P;B	0.60949	0.881;0.368	T	0.58482	-0.7629	10	0.42905	T	0.14	.	15.2501	0.73539	1.0:0.0:0.0:0.0	.	924;924	Q6P275;Q8WVM7	.;STAG1_HUMAN	T	924;924;508	ENSP00000372689:I924T;ENSP00000236698:I924T;ENSP00000445787:I508T	ENSP00000236698:I924T	I	-	2	0	STAG1	137564914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.006000	0.58801	0.454000	0.30748	ATT		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		38	190	0	0	0	1	0	38	190					G	136082224	A	G	136082224	3	3	79	1	0	0	0	0	1	0	0	0	15294	101	4	4	1041	4	STAG1	3	136082224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14114	136082224	61940206	4651	14968											
STAG1	10274	broad.mit.edu	37	chr3	136087969	136087969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgctctggttctcctcGtcttggtcaataaaaacgtg	8	12	4	0	rs199613871		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000383202.2	-	24	2782	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000434713.2_Silent_p.D616D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	842					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTTCTCCTCGTCTTGGTCAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16021	0.0		0.001	False		,,,				2504	0.0					ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2524-2526)gaC>gaT		stromal antigen 1		G		0,4406		0,0,2203	72	69	70		2526	0.4	1	3		70	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	STAG1	NM_005862.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		842/1259	136087969	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136087969G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2526C>T	3.37:g.136087969G>A						STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000434713.2_Silent_p.D616D	p.D842D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			24	2782	-			842					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2526C>T	CCDS3090.1																																																																																				0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		20	213	0	0	0	1	0	20	213					A	136087969	G	A	136087969	2	1	79	1	0	0	0	0	0	0	0	1	15294	1136	40	1		1	STAG1	3	136087969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5745	136087969	61934461	4652	14969											
TMEM22	80723	broad.mit.edu	37	chr3	136573657	136573657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggctcatggatgtgtaGctcttatcactaggcttgtt	10	8	3	0	rs377008678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136573657G>A	ENST00000446465.2	+	2	983	c.355G>A	c.(355-357)Gct>Act	p.A119T	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.A119T|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TGGATGTGTAGCTCTTATCAC	0.388																																						ENST00000446465.2																			0											c.(355-357)Gct>Act		solute carrier family 35, member G2							168	150	156					3																	136573657		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573657G>A	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.355G>A	3.37:g.136573657G>A	ENSP00000400839:p.Ala119Thr					RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.A119T|RP11-85F14.5_ENST00000474250.1_RNA	p.A119T	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	983	+			119			DUF6 1.			Missense_Mutation	SNP	ENST00000446465.2	37	c.355G>A	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102738	0.76983	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.50001	0.76;0.76	5.44	5.44	0.79542	Drug/metabolite transporter (1);	0.102417	0.64402	D	0.000003	T	0.48960	0.1529	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	D	0.64144	0.922	T	0.39251	-0.9623	10	0.15952	T	0.53	.	17.818	0.88640	0.0:0.0:1.0:0.0	.	119	Q8TBE7	TMM22_HUMAN	T	119	ENSP00000400839:A119T;ENSP00000376794:A119T	ENSP00000376794:A119T	A	+	1	0	TMEM22	138056347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.080000	0.94040	2.554000	0.86153	0.491000	0.48974	GCT		0.388	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		25	852	0	0	0	1	0	25	852					A	136573657	G	A	136573657	3	1	79	1	0	0	0	0	1	0	0	0	16195	971	34	2	357	2	TMEM22	3	136573657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485688	136573657	61448773	4653	14970											
NCK1	4690	broad.mit.edu	37	chr3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgacccaggggaacGtctctatgacctcaacatgc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000481752.1	+	3	472	c.308G>A	c.(307-309)cGt>cAt	p.R103H	NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000469404.1_Missense_Mutation_p.R39H			P16333	NCK1_HUMAN	NCK adaptor protein 1	103					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(115-117)cGt>cAt		NCK adaptor protein 1							120	121	121					3																	136664506		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664506G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.308G>A	3.37:g.136664506G>A	ENSP00000417273:p.Arg103His					NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000481752.1_Missense_Mutation_p.R103H	p.R39H	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	207	+			103			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.116G>A	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808386|3.808386	0.70797|0.70797	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911|ENST00000496489	T;T;T;T;T;T;T|.	0.69306|.	-0.34;-0.34;1.3;1.09;2.29;-0.39;2.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Src homology-3 domain (1);|.	0.055856|.	0.64402|.	D|.	0.000001|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.915|.	D;B|.	0.72625|.	0.978;0.21|.	T|T	0.71646|0.71646	-0.4530|-0.4530	10|5	0.21014|.	T|.	0.42|.	-23.5168|-23.5168	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;103|.	B7Z751;P16333|.	.;NCK1_HUMAN|.	H|I	103;103;103;103;103;39;39|91	ENSP00000288986:R103H;ENSP00000417273:R103H;ENSP00000419302:R103H;ENSP00000419677:R103H;ENSP00000417729:R103H;ENSP00000419631:R39H;ENSP00000418060:R39H|.	ENSP00000288986:R103H|.	R|V	+|+	2|1	0|0	NCK1|NCK1	138147196|138147196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.367000|9.367000	0.97148|0.97148	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		31	425	0	0	0	1	0	31	425					A	136664506	G	A	136664506	3	1	79	1	0	0	0	0	1	0	0	0	10261	1145	40	1	314	1	NCK1	3	136664506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90849	136664506	61357924	4654	14971											
NCK1	4690	broad.mit.edu	37	chr3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgacctcaacatgcccGcttatgtgaaatttaactac	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000481752.1	+	3	495	c.331G>A	c.(331-333)Gct>Act	p.A111T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000469404.1_Missense_Mutation_p.A47T			P16333	NCK1_HUMAN	NCK adaptor protein 1	111					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(139-141)Gct>Act		NCK adaptor protein 1							148	147	147					3																	136664529		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664529G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.331G>A	3.37:g.136664529G>A	ENSP00000417273:p.Ala111Thr					NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000481752.1_Missense_Mutation_p.A111T	p.A47T	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	230	+			111			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.139G>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183921	0.78677	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.40756	1.37;1.37;1.05;1.02;2.09;1.37;2.09	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.65088	-0.6253	10	0.66056	D	0.02	-14.2769	18.3537	0.90348	0.0:0.0:1.0:0.0	.	47;111	B7Z751;P16333	.;NCK1_HUMAN	T	111;111;111;111;111;47;47	ENSP00000288986:A111T;ENSP00000417273:A111T;ENSP00000419302:A111T;ENSP00000419677:A111T;ENSP00000417729:A111T;ENSP00000419631:A47T;ENSP00000418060:A47T	ENSP00000288986:A111T	A	+	1	0	NCK1	138147219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.937000	0.99478	0.650000	0.86243	GCT		0.438	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		107	438	0	0	0	1	0	107	438					A	136664529	G	A	136664529	3	1	79	1	0	0	0	0	1	0	0	0	10261	1087	38	1	337	1	NCK1	3	136664529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	136664529	61357901	4655	14972											
NCK1	4690	broad.mit.edu	37	chr3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctactgcattgggcagCgtaaattcagcaccatggaa	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C			P16333	NCK1_HUMAN	NCK adaptor protein 1	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(838-840)Cgt>Tgt		NCK adaptor protein 1							97	93	94					3																	136667191		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667191C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.1030C>T	3.37:g.136667191C>T	ENSP00000417273:p.Arg344Cys					NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron	p.R280C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			3	929	+			344					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.838C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT		0.348	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		58	263	0	0	0	1	0	58	263					T	136667191	C	T	136667191	3	4	79	1	0	0	0	0	1	0	0	0	10261	768	27	1	1040	1	NCK1	3	136667191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2662	136667191	61355239	4656	14973											
DZIP1L	199221	broad.mit.edu	37	chr3	137783593	137783593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccaggtttttgaccatCgactgcaccagtgttcctgg	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	673					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(2017-2019)tcG>tcA		DAZ interacting zinc finger protein 1-like							145	157	153					3																	137783593		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137783593C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2019G>A	3.37:g.137783593C>T							p.S673S	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			15	2381	-			673					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.2019G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281852	0.01398	.	.	ENSG00000158163	ENST00000486487	.	.	.	4.93	-9.57	0.00562	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.30303	N	0.789263	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	-4.4106	9.158	0.37005	0.0:0.1371:0.3222:0.5406	.	.	.	.	N	43	.	.	D	-	1	0	DZIP1L	139266283	0.002000	0.14202	0.059000	0.19551	0.067000	0.16453	-2.142000	0.01298	-1.733000	0.01357	-0.794000	0.03295	GAT		0.517	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		227	1073	0	0	0	1	0	227	1073					T	137783593	C	T	137783593	2	4	79	1	0	0	0	0	0	0	0	1	4880	871	31	1		1	DZIP1L	3	137783593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116402	137783593	60238837	4657	14974											
DZIP1L	199221	broad.mit.edu	37	chr3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagtccggggcgtggagCgggggcggacacctgggtca	20	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	591					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1771-1773)Gct>Act		DAZ interacting zinc finger protein 1-like							44	49	47					3																	137787054		2203	4299	6502	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137787054C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1771G>A	3.37:g.137787054C>T	ENSP00000332148:p.Ala591Thr						p.A591T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			13	2133	-			591					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1771G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	6.214	0.407542	0.11754	.	.	ENSG00000158163	ENST00000327532	T	0.38560	1.13	4.91	-0.64	0.11493	.	0.988360	0.08252	N	0.974395	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.24483	T	0.36	0.5692	7.6678	0.28441	0.0:0.3723:0.0:0.6277	.	591	Q8IYY4	DZI1L_HUMAN	T	591	ENSP00000332148:A591T	ENSP00000332148:A591T	A	-	1	0	DZIP1L	139269744	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.192000	0.03052	-0.198000	0.10333	-0.300000	0.09419	GCT		0.697	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		74	292	0	0	0	1	0	74	292					T	137787054	C	T	137787054	3	4	79	1	0	0	0	0	1	0	0	0	4880	768	27	1	548	1	DZIP1L	3	137787054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3461	137787054	60235376	4658	14975											
DZIP1L	199221	broad.mit.edu	37	chr3	137787193	137787193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctctggtgaccagtgtGctctgctggcttttgactgg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	544					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1630-1632)agC>agT		DAZ interacting zinc finger protein 1-like							57	63	61					3																	137787193		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137787193G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1632C>T	3.37:g.137787193G>A			OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1636	DZIP1L_ENST00000488595.1_5'UTR	p.S544S	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			13	1994	-			544					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1632C>T	CCDS3096.1																																																																																				0.562	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		62	269	0	0	0	1	0	62	269					A	137787193	G	A	137787193	2	1	79	1	0	0	0	0	0	0	0	1	4880	1310	46	2		2	DZIP1L	3	137787193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	137787193	60235237	4659	14976											
DBR1	51163	broad.mit.edu	37	chr3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtttgcatgtgacgaTacttgggcggcacggccatg	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	58					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(172-174)tAt>tGt		debranching RNA lariats 1							29	25	27					3																	137893465		2202	4298	6500	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137893465T>C	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.173A>G	3.37:g.137893465T>C	ENSP00000260803:p.Tyr58Cys					DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	p.Y58C	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			1	326	-			58					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.173A>G	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837797	0.91117	.	.	ENSG00000138231	ENST00000260803	T	0.34667	1.35	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81529	-0.0891	10	0.87932	D	0	-14.0475	13.1814	0.59657	0.0:0.0:0.0:1.0	.	58	Q9UK59	DBR1_HUMAN	C	58	ENSP00000260803:Y58C	ENSP00000260803:Y58C	Y	-	2	0	DBR1	139376155	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.523000	0.81856	2.213000	0.71641	0.455000	0.32223	TAT		0.687	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			23	72	0	0	0	1	0	23	72					C	137893465	T	C	137893465	3	2	79	1	0	0	0	0	1	0	0	0	4268	1406	49	4	1493	4	DBR1	3	137893465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106272	137893465	60128965	4660	14977											
ARMC8	25852	broad.mit.edu	37	chr3	138007892	138007892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttctgtattaatagggCcattcacatgttaaactgca	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	ENST00000469044.1	+	20	2095	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000481646.1_Silent_p.G594G|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Silent_p.G541G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	608										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTAATAGGGCCATTCACATG	0.338																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1822-1824)ggC>ggT		armadillo repeat containing 8							65	59	61					3																	138007892		1817	4076	5893	SO:0001819	synonymous_variant	25852						binding	g.chr3:138007892C>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1824C>T	3.37:g.138007892C>T						ARMC8_ENST00000491704.1_Silent_p.G566G|ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Silent_p.G594G|ARMC8_ENST00000461822.1_Silent_p.G541G|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000317876.4_Intron	p.G608G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			20	2095	+			608					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.1824C>T																																																																																					0.338	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		21	98	0	0	0	1	0	21	98					T	138007892	C	T	138007892	2	4	79	1	0	0	0	0	0	0	0	1	958	726	26	2		2	ARMC8	3	138007892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114427	138007892	60014538	4661	14978											
ESYT3	83850	broad.mit.edu	37	chr3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaccacaaccaccaccaGtgctaccaccgttgccactg	7	17	0	0	rs147770352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	649					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGt>aAt		extended synaptotagmin-like protein 3							138	154	149					3																	138191410		2094	4221	6315	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191410G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1946G>A	3.37:g.138191410G>A	ENSP00000374218:p.Ser649Asn						p.S649N	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2132	+			649					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1946G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381065	0.05000	.	.	ENSG00000158220	ENST00000389567	T	0.38887	1.11	3.35	2.35	0.29111	.	2.072220	0.02129	N	0.056260	T	0.35278	0.0926	L	0.36672	1.1	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.18710	T	0.47	-0.1719	9.3357	0.38049	0.0:0.0:0.7719:0.2281	.	649	A0FGR9	ESYT3_HUMAN	N	649	ENSP00000374218:S649N	ENSP00000374218:S649N	S	+	2	0	ESYT3	139674100	0.143000	0.22626	0.094000	0.20943	0.717000	0.41224	0.770000	0.26618	1.713000	0.51359	0.462000	0.41574	AGT		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		136	596	0	0	0	1	0	136	596					A	138191410	G	A	138191410	3	1	79	1	0	0	0	0	1	0	0	0	5284	1029	36	2	2016	2	ESYT3	3	138191410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183518	138191410	59831020	4662	14979											
ESYT3	83850	broad.mit.edu	37	chr3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaggtggggacctcaggCgacggcagctgggtgagatt	18	8	1	2	rs200317671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	752					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2254-2256)Cga>Tga		extended synaptotagmin-like protein 3							107	115	112					3																	138192394		2053	4188	6241	SO:0001587	stop_gained	83850					integral to membrane|plasma membrane		g.chr3:138192394C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2254C>T	3.37:g.138192394C>T	ENSP00000374218:p.Arg752*					ESYT3_ENST00000460133.1_3'UTR	p.R752*	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			19	2440	+			752					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	ENST00000389567.4	37	c.2254C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	38	7.071072	0.98044	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.83	1.96	0.26148	.	1.153470	0.06567	N	0.747700	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.8153	8.2911	0.31958	0.4533:0.3999:0.1468:0.0	.	.	.	.	X	752	.	ENSP00000374218:R752X	R	+	1	2	ESYT3	139675084	0.050000	0.20438	0.001000	0.08648	0.012000	0.07955	0.631000	0.24568	0.314000	0.23086	-0.127000	0.14921	CGA		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		118	606	0	0	0	1	0	118	606					T	138192394	C	T	138192394	4	4	79	1	0	0	0	0	0	1	0	0	5284	760	27	1	2328	1	ESYT3	3	138192394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	138192394	59830036	4663	14980											
ESYT3	83850	broad.mit.edu	37	chr3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaattttttgttcccaTggaagaagtaaagaagaggt	10	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	830	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2488-2490)aTg>aCg		extended synaptotagmin-like protein 3							104	99	101					3																	138195085		1828	4098	5926	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138195085T>C	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2489T>C	3.37:g.138195085T>C	ENSP00000374218:p.Met830Thr					ESYT3_ENST00000460133.1_3'UTR	p.M830T	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			21	2675	+			830			C2 3.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2489T>C	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191359	0.38707	.	.	ENSG00000158220	ENST00000389567	T	0.68479	-0.33	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261920	0.24681	U	0.036474	T	0.50531	0.1621	L	0.28740	0.885	0.80722	D	1	B	0.23128	0.08	B	0.27262	0.078	T	0.42799	-0.9430	10	0.13108	T	0.6	-8.2165	8.355	0.32324	0.1749:0.0:0.0:0.8251	.	830	A0FGR9	ESYT3_HUMAN	T	830	ENSP00000374218:M830T	ENSP00000374218:M830T	M	+	2	0	ESYT3	139677775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.173000	0.68751	0.374000	0.22700	ATG		0.358	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		66	273	0	0	0	1	0	66	273					C	138195085	T	C	138195085	3	2	79	1	0	0	0	0	1	0	0	0	5284	1464	51	4	2571	4	ESYT3	3	138195085	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	138195085	59827345	4664	14981											
C3orf72	401089	broad.mit.edu	37	chr3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctactagggaagcgtcGcggctgctctgaggcaggca	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(298-300)cGc>cAc		chromosome 3 open reading frame 72							12	17	15					3																	138669185		1664	3841	5505	SO:0001583	missense	401089							g.chr3:138669185G>A																												ENST00000383165.3:c.299G>A	3.37:g.138669185G>A	ENSP00000372651:p.Arg100His						p.R100H	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	430	+			100					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.299G>A	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397971	0.11696	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.79	-1.45	0.08828	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.16867	-1.0388	8	0.54805	T	0.06	.	4.1627	0.10291	0.1688:0.3982:0.433:0.0	.	100	Q6ZUU3	CC072_HUMAN	H	100	.	ENSP00000372651:R100H	R	+	2	0	C3orf72	140151875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.418000	0.07080	-0.475000	0.06852	0.555000	0.69702	CGC		0.682	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			49	190	0	0	0	1	0	49	190					A	138669185	G	A	138669185	3	1	79	1	0	0	0	0	1	0	0	0	2251	1087	38	1	309	1	C3orf72	3	138669185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474100	138669185	59353245	4665	14982											
C3orf72	401089	broad.mit.edu	37	chr3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctctgcggtgcttggCtagcaaagggaagcttcact	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(496-498)gCt>gTt		chromosome 3 open reading frame 72							83	94	90					3																	138669383		2030	4196	6226	SO:0001583	missense	401089							g.chr3:138669383C>T																												ENST00000383165.3:c.497C>T	3.37:g.138669383C>T	ENSP00000372651:p.Ala166Val						p.A166V	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	628	+			166					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.497C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505377	0.12822	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.79	-3.56	0.04626	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18713	-1.0328	8	0.87932	D	0	.	0.1327	0.00075	0.2483:0.2598:0.1865:0.3054	.	166	Q6ZUU3	CC072_HUMAN	V	166	.	ENSP00000372651:A166V	A	+	2	0	C3orf72	140152073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-1.077000	0.03121	-1.184000	0.01707	GCT		0.612	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			103	393	0	0	0	1	0	103	393					T	138669383	C	T	138669383	3	4	79	1	0	0	0	0	1	0	0	0	2251	797	28	2	507	2	C3orf72	3	138669383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	138669383	59353047	4666	14983											
COPB2	9276	broad.mit.edu	37	chr3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatgaacagcaatacagcGaatgtagtctgagtgtgctt	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383																																						ENST00000333188.5																			1	Substitution - Missense(1)	p.R103C(1)	large_intestine(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(307-309)Cgc>Tgc		coatomer protein complex, subunit beta 2 (beta prime)							124	116	119					3																	139097937		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139097937G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.307C>T	3.37:g.139097937G>A	ENSP00000329419:p.Arg103Cys					COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	p.R103C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			4	488	-			103					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.307C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		47	241	0	0	0	1	0	47	241					A	139097937	G	A	139097937	3	1	79	1	0	0	0	0	1	0	0	0	3738	1058	37	1	2489	1	COPB2	3	139097937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428554	139097937	58924493	4667	14984											
RBP2	5948	broad.mit.edu	37	chr3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcctccttacccagggCcttcatgtagccctcaaagt	7	15	3	0	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547																																						ENST00000232217.2																			1	Substitution - Missense(1)	p.A23S(1)	lung(1)	breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(67-69)Gcc>Acc		retinol binding protein 2, cellular	Vitamin A(DB00162)						230	186	201					3																	139195235		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139195235C>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.67G>A	3.37:g.139195235C>T	ENSP00000232217:p.Ala23Thr					RP11-319G6.1_ENST00000515247.1_RNA	p.A23T	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN			1	123	-			23					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.67G>A	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212263	0.79240	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08984	3.03;3.03	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.23249	0.0562	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.00121	-1.2029	10	0.72032	D	0.01	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	T	23	ENSP00000232217:A23T;ENSP00000424333:A23T	ENSP00000232217:A23T	A	-	1	0	RBP2	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC		0.547	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		66	253	0	0	0	1	0	66	253					T	139195235	C	T	139195235	3	4	79	1	0	0	0	0	1	0	0	0	13206	739	26	2	353	2	RBP2	3	139195235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97298	139195235	58827195	4668	14985											
NMNAT3	349565	broad.mit.edu	37	chr3	139297773	139297773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcccaagggtccacccgGatccagtcggatgtctgcag	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000296202.7	-	4	615	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000406824.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587																																						ENST00000406164.1																			1	Substitution - coding silent(1)	p.I41I(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						c.(121-123)atC>atT		nicotinamide nucleotide adenylyltransferase 3							119	99	106					3																	139297773		2203	4300	6503	SO:0001819	synonymous_variant	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139297773G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.234C>T	3.37:g.139297773G>A						NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000296202.7_Silent_p.I78I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000406824.1_5'UTR	p.I41I			Q96T66	NMNA3_HUMAN			4	686	-			78					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	37	c.123C>T																																																																																					0.587	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		38	217	0	0	0	1	0	38	217					A	139297773	G	A	139297773	2	1	79	1	0	0	0	0	0	0	0	1	10542	1164	41	2		2	NMNAT3	3	139297773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102538	139297773	58724657	4669	14986											
CLSTN2	64084	broad.mit.edu	37	chr3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccctccggggcacagAccacttctggagacctgctg	11	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	641					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)			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						CGGGGCACAGACCACTTCTGG	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				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						c.(1921-1923)gAc>gCc		calsyntenin 2							71	70	70					3																	140277580		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277580A>C	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.1922A>C	3.37:g.140277580A>C	ENSP00000402460:p.Asp641Ala	HNSCC(16;0.037)					p.D641A	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			12	2112	+			641					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1922A>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	8.256	0.810116	0.16537	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.27	5.27	0.74061	.	0.374526	0.32301	N	0.006290	T	0.25568	0.0622	L	0.41710	1.295	0.35741	D	0.818657	P	0.49090	0.919	B	0.40256	0.324	T	0.32025	-0.9922	9	.	.	.	-22.7113	13.1571	0.59524	1.0:0.0:0.0:0.0	.	641	Q9H4D0	CSTN2_HUMAN	A	641	ENSP00000402460:D641A	.	D	+	2	0	CLSTN2	141760270	1.000000	0.71417	0.104000	0.21259	0.750000	0.42670	9.339000	0.96797	1.990000	0.58119	0.528000	0.53228	GAC		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		60	304	0	0	0	1	0	60	304					C	140277580	A	C	140277580	3	2	79	1	0	0	0	0	1	0	0	0	3571	275	10	4	1968	4	CLSTN2	3	140277580	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	979807	140277580	57744850	4670	14987											
SLC25A36	55186	broad.mit.edu	37	chr3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatatgctggtatatcagaGactgttatccattttgttat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000324194.6	+	6	735	c.567G>T	c.(565-567)gaG>gaT	p.E189D	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	189					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(565-567)gaG>gaT		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							67	68	68					3																	140692672		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692672G>T	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.567G>T	3.37:g.140692672G>T	ENSP00000320688:p.Glu189Asp					SLC25A36_ENST00000324194.6_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D	p.E189D	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			6	792	+			189					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.567G>T	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335840	0.81801	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78246	-1.16;-1.16;-1.16	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.996	D	0.92087	0.5677	10	0.54805	T	0.06	-7.1033	11.2987	0.49292	0.0818:0.0:0.9182:0.0	.	163;189;189	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	189;189;163	ENSP00000401938:E189D;ENSP00000320688:E189D;ENSP00000391521:E163D	ENSP00000320688:E189D	E	+	3	2	SLC25A36	142175362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.264000	0.58859	2.861000	0.98227	0.650000	0.86243	GAG		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		48	227	1	0	3.4345e-17	1	3.7875e-17	48	227					T	140692672	G	T	140692672	3	4	79	1	0	0	0	0	1	0	0	0	14550	933	33	3	589	3	SLC25A36	3	140692672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415092	140692672	57329758	4671	14988											
SPSB4	92369	broad.mit.edu	37	chr3	140785480	140785480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgctgcccgactcgctgctCgtggtgctggacatggatga	15	12	0	1	rs557176968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	178	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.001					ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(532-534)ctC>ctT		splA/ryanodine receptor domain and SOCS box containing 4							37	34	35					3																	140785480		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785480C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.534C>T	3.37:g.140785480C>T							p.L178L	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1278	+			178			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.534C>T	CCDS3115.1																																																																																				0.667	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		22	97	0	0	0	1	0	22	97					T	140785480	C	T	140785480	2	4	79	1	0	0	0	0	0	0	0	1	15167	871	31	1		1	SPSB4	3	140785480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92808	140785480	57236950	4672	14989											
SPSB4	92369	broad.mit.edu	37	chr3	140785540	140785540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatggccagtacctgggCgtggccttccgaggtctcaa	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	198	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(592-594)ggC>ggT		splA/ryanodine receptor domain and SOCS box containing 4							58	53	55					3																	140785540		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785540C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.594C>T	3.37:g.140785540C>T							p.G198G	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1338	+			198			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.594C>T	CCDS3115.1																																																																																				0.632	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		28	183	0	0	0	1	0	28	183					T	140785540	C	T	140785540	2	4	79	1	0	0	0	0	0	0	0	1	15167	755	27	1		1	SPSB4	3	140785540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	140785540	57236890	4673	14990											
SPSB4	92369	broad.mit.edu	37	chr3	140785571	140785571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtctcaagggcaagaagCtgtacccggtggtgagtgcc	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGGCAAGAAGCTGTACCCGGT	0.617																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(625-627)Ctg>Ttg		splA/ryanodine receptor domain and SOCS box containing 4							70	66	67					3																	140785571		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785571C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.625C>T	3.37:g.140785571C>T							p.L209L	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1369	+			209			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.625C>T	CCDS3115.1																																																																																				0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		12	245	0	0	0	1	0	12	245					T	140785571	C	T	140785571	2	4	79	1	0	0	0	0	0	0	0	1	15167	796	28	2		2	SPSB4	3	140785571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140785571	57236859	4674	14991											
ZBTB38	253461	broad.mit.edu	37	chr3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccaacgctgaatttccaaGatactgtaaacaccctgacc	5	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y|ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(1858-1860)Gat>Tat		zinc finger and BTB domain containing 38							86	84	84					3																	141163088		1986	4179	6165	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163088G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1858G>T	3.37:g.141163088G>T	ENSP00000426387:p.Asp620Tyr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y	p.D620Y			Q8NAP3	ZBT38_HUMAN			4	2137	+			620						Missense_Mutation	SNP	ENST00000514251.1	37	c.1858G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146053	0.37923	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09163	3.47;3.01;3.01;3.01	5.55	2.76	0.32466	.	0.461992	0.22355	N	0.061147	T	0.08044	0.0201	L	0.44542	1.39	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.23419	0.046;0.046	T	0.32161	-0.9917	9	.	.	.	-4.1212	6.2002	0.20571	0.2194:0.3343:0.4463:0.0	.	621;620	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	620;620;620;621	ENSP00000424254:D620Y;ENSP00000426387:D620Y;ENSP00000406955:D620Y;ENSP00000372635:D621Y	.	D	+	1	0	ZBTB38	142645778	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.371000	0.34250	0.292000	0.22492	-0.898000	0.02899	GAT		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			73	389	1	0	1.58458e-29	1	1.85199e-29	73	389					T	141163088	G	T	141163088	3	4	79	1	0	0	0	0	1	0	0	0	17592	942	33	3	1860	3	ZBTB38	3	141163088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377517	141163088	56859342	4675	14992											
ZBTB38	253461	broad.mit.edu	37	chr3	141163405	141163405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagccagttttcatcGgtgatcatgcacagcaatgc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000321464.5_Silent_p.S726S|ZBTB38_ENST00000441582.2_Silent_p.S725S					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2173-2175)tcG>tcA		zinc finger and BTB domain containing 38							73	75	74					3																	141163405		2063	4206	6269	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163405G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2175G>A	3.37:g.141163405G>A						ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S	p.S725S			Q8NAP3	ZBT38_HUMAN			4	2454	+			725						Silent	SNP	ENST00000514251.1	37	c.2175G>A	CCDS43157.1																																																																																				0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			86	325	0	0	0	1	0	86	325					A	141163405	G	A	141163405	2	1	79	1	0	0	0	0	0	0	0	1	17592	1103	39	1		1	ZBTB38	3	141163405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	317	141163405	56859025	4676	14993											
ZBTB38	253461	broad.mit.edu	37	chr3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A													ctacatcacataccaggggaGaaataccggaggagtcaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2359-2361)Gaa>Aaa		zinc finger and BTB domain containing 38							55	53	53					3																	141163589		1858	4100	5958	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163589G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2359G>A	3.37:g.141163589G>A	ENSP00000426387:p.Glu787Lys					ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K	p.E787K			Q8NAP3	ZBT38_HUMAN			4	2638	+			787						Missense_Mutation	SNP	ENST00000514251.1	37	c.2359G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241111	0.39598	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.33	5.33	0.75918	.	0.507348	0.19173	N	0.120890	T	0.12987	0.0315	L	0.57536	1.79	0.49389	D	0.99978	P;P	0.43094	0.799;0.799	B;B	0.32980	0.156;0.156	T	0.10109	-1.0644	9	.	.	.	-11.7549	19.0314	0.92959	0.0:0.0:1.0:0.0	.	788;787	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	787;787;788	ENSP00000426387:E787K;ENSP00000406955:E787K;ENSP00000372635:E788K	.	E	+	1	0	ZBTB38	142646279	1.000000	0.71417	0.555000	0.28281	0.428000	0.31595	6.996000	0.76263	2.497000	0.84241	0.650000	0.86243	GAA		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			30	180	0	0	0	1	0	30	180					A	141163589	G	A	141163589	3	1	79	1	0	0	0	0	1	0	0	0	17592	943	33	2	2361	2	ZBTB38	3	141163589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	141163589	56858841	4677	14994	91	2									
ZBTB38	253461	broad.mit.edu	37	chr3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T													acataccaggggagaaatacCggaggagtcaaactatgttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2365-2367)cCg>cTg		zinc finger and BTB domain containing 38							55	53	54					3																	141163596		1861	4103	5964	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163596C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2366C>T	3.37:g.141163596C>T	ENSP00000426387:p.Pro789Leu					ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L	p.P789L			Q8NAP3	ZBT38_HUMAN			4	2645	+			789						Missense_Mutation	SNP	ENST00000514251.1	37	c.2366C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027271	0.02045	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08370	3.1;3.1;3.1	5.33	3.29	0.37713	.	1.066810	0.07311	N	0.875850	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	9	.	.	.	-0.1081	8.7571	0.34652	0.0:0.7163:0.0:0.2837	.	790;789	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	789;789;790	ENSP00000426387:P789L;ENSP00000406955:P789L;ENSP00000372635:P790L	.	P	+	2	0	ZBTB38	142646286	0.006000	0.16342	0.265000	0.24526	0.304000	0.27724	1.585000	0.36600	1.255000	0.44051	-0.143000	0.13931	CCG		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			42	169	0	0	0	1	0	42	169					T	141163596	C	T	141163596	3	4	79	1	0	0	0	0	1	0	0	0	17592	652	23	1	2368	1	ZBTB38	3	141163596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	141163596	56858834	4678	14995	91	2									
RASA2	5922	broad.mit.edu	37	chr3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgaaagtaacattaaAacctattcttgatgaggtac	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000452898.1	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000286364.3_Missense_Mutation_p.K423T	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	423	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTAACATTAAAACCTATTCTT	0.373																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1267-1269)aAa>aCa		RAS p21 protein activator 2							97	95	96					3																	141291549		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141291549A>C	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1268A>C	3.37:g.141291549A>C	ENSP00000391677:p.Lys423Thr					RASA2_ENST00000452898.1_Missense_Mutation_p.K423T	p.K423T			Q15283	RASA2_HUMAN			12	1303	+			423			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1268A>C		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583093	0.86748	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.56746	0.867;0.977;0.972;0.977	P;D;D;D	0.69824	0.836;0.966;0.943;0.966	T	0.25363	-1.0134	10	0.56958	D	0.05	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	15;423;423;423	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	T	423;423;15	ENSP00000286364:K423T;ENSP00000391677:K423T	ENSP00000286364:K423T	K	+	2	0	RASA2	142774239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.533000	0.62120	AAA		0.373	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		55	244	0	0	0	1	0	55	244					C	141291549	A	C	141291549	3	2	79	1	0	0	0	0	1	0	0	0	13111	14	1	4	1314	4	RASA2	3	141291549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127953	141291549	56730881	4679	14996											
GRK7	131890	broad.mit.edu	37	chr3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccaccaaagacagcgCgctgcaggggctggtggcca	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	105	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAGACAGCGCGCTGCAGGGG	0.672																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(313-315)gCg>gTg		G protein-coupled receptor kinase 7							23	25	24					3																	141497440		2199	4291	6490	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497440C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.314C>T	3.37:g.141497440C>T	ENSP00000264952:p.Ala105Val						p.A105V	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	451	+			105			RGS.			Missense_Mutation	SNP	ENST00000264952.2	37	c.314C>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717074	0.15372	.	.	ENSG00000114124	ENST00000264952	T	0.02015	4.5	4.37	-3.86	0.04230	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	2.007550	0.02149	N	0.057872	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	T	0.44711	-0.9310	10	0.52906	T	0.07	2.9895	5.7512	0.18148	0.0:0.3545:0.2322:0.4132	.	105	Q8WTQ7	GRK7_HUMAN	V	105	ENSP00000264952:A105V	ENSP00000264952:A105V	A	+	2	0	GRK7	142980130	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.252000	0.08806	-0.921000	0.03794	-0.471000	0.05019	GCG		0.672	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	271	0	0	0	1	0	12	271					T	141497440	C	T	141497440	3	4	79	1	0	0	0	0	1	0	0	0	6824	768	27	1	316	1	GRK7	3	141497440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205891	141497440	56524990	4680	14997											
GRK7	131890	broad.mit.edu	37	chr3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatcttttactcggcccaGatagcctgtgggatgctgca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(895-897)caG>caT		G protein-coupled receptor kinase 7							96	86	90					3																	141499500		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499500G>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.897G>T	3.37:g.141499500G>T	ENSP00000264952:p.Gln299His						p.Q299H	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	1034	+			299			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.897G>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196994	0.79015	.	.	ENSG00000114124	ENST00000264952	T	0.34667	1.35	5.1	5.1	0.69264	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	0.59742	0.2216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63462	-0.6632	10	0.87932	D	0	-21.6541	18.5075	0.90902	0.0:0.0:1.0:0.0	.	299	Q8WTQ7	GRK7_HUMAN	H	299	ENSP00000264952:Q299H	ENSP00000264952:Q299H	Q	+	3	2	GRK7	142982190	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.304000	0.65744	2.357000	0.79964	0.655000	0.94253	CAG		0.547	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		49	217	1	0	2.13883e-14	1	2.32436e-14	49	217					T	141499500	G	T	141499500	3	4	79	1	0	0	0	0	1	0	0	0	6824	933	33	3	903	3	GRK7	3	141499500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2060	141499500	56522930	4681	14998											
GRK7	131890	broad.mit.edu	37	chr3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattcctatcctgtggacTggtttgccatgggatgcagc	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1120-1122)Tgg>Cgg		G protein-coupled receptor kinase 7							116	115	115					3																	141526556		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526556T>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1120T>C	3.37:g.141526556T>C	ENSP00000264952:p.Trp374Arg						p.W374R	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			3	1257	+			374			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1120T>C	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246655	0.80024	.	.	ENSG00000114124	ENST00000264952	T	0.24723	1.84	4.93	4.93	0.64822	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	0.62319	0.2418	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74731	-0.3566	10	0.87932	D	0	-9.2897	14.5933	0.68386	0.0:0.0:0.0:1.0	.	374	Q8WTQ7	GRK7_HUMAN	R	374	ENSP00000264952:W374R	ENSP00000264952:W374R	W	+	1	0	GRK7	143009246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	1.847000	0.53656	0.528000	0.53228	TGG		0.418	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		93	444	0	0	0	1	0	93	444					C	141526556	T	C	141526556	3	2	79	1	0	0	0	0	1	0	0	0	6824	1580	55	4	1130	4	GRK7	3	141526556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27056	141526556	56495874	4682	14999											
GRK7	131890	broad.mit.edu	37	chr3	141526658	141526658	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggatctgaagcaaagaactCtgcaagacgaggtcaaattc	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526658C>A	ENST00000264952.2	+	3	1359	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.L408V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAAGAACTCTGCAAGACGA	0.428																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.L408V(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1222-1224)Ctg>Atg		G protein-coupled receptor kinase 7							109	99	103					3																	141526658		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526658C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1222C>A	3.37:g.141526658C>A	ENSP00000264952:p.Leu408Met						p.L408M	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			3	1359	+			408			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1222C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499113	0.44455	.	.	ENSG00000114124	ENST00000264952	T	0.68765	-0.35	4.95	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076806	0.52532	D	0.000068	T	0.56978	0.2022	L	0.46614	1.455	0.49299	D	0.999776	P	0.39782	0.688	B	0.42138	0.377	T	0.56498	-0.7969	10	0.56958	D	0.05	-11.8645	4.5024	0.11870	0.0:0.5491:0.2011:0.2498	.	408	Q8WTQ7	GRK7_HUMAN	M	408	ENSP00000264952:L408M	ENSP00000264952:L408M	L	+	1	2	GRK7	143009348	0.961000	0.32948	0.976000	0.42696	0.985000	0.73830	1.891000	0.39738	1.019000	0.39547	0.650000	0.86243	CTG		0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		7	355	1	0	0.00198382	1	0.00200138	7	355					A	141526658	C	A	141526658	3	1	79	1	0	0	0	0	1	0	0	0	6824	912	32	3	1232	3	GRK7	3	141526658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	141526658	56495772	4683	15000											
ATP1B3	483	broad.mit.edu	37	chr3	141644374	141644374	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccttttattgccaggTtgggtatctacagccattgg	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	224	immunoglobulin-like. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378																																						ENST00000286371.3																			0				cervix(1)|endometrium(1)|lung(2)	4						c.e7-1		ATPase, Na+/K+ transporting, beta 3 polypeptide							119	115	117					3																	141644374		2203	4300	6503	SO:0001630	splice_region_variant	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141644374T>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"CD molecules", "ATPases / P-type"	806	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-3", "sodium pump subunit beta-3", "sodium-potassium ATPase subunit beta 3 (non-catalytic)"	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.670-1T>C	3.37:g.141644374T>C						ATP1B3_ENST00000462082.1_Splice_Site_p.V34_splice|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR	p.V224_splice	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN			7	859	+			224					B7Z1N7	Splice_Site	SNP	ENST00000286371.3	37	c.669_splice	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608812	0.14066	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.29142	1.58;1.58	5.58	0.0747	0.14396	.	0.662303	0.16266	N	0.222039	T	0.21590	0.0520	M	0.65975	2.015	0.40735	D	0.982782	B;B	0.19200	0.034;0.034	B;B	0.22152	0.022;0.038	T	0.14699	-1.0463	10	0.07482	T	0.82	-6.4638	1.5542	0.02581	0.1219:0.1728:0.2729:0.4324	.	210;224	D3DNF9;P54709	.;AT1B3_HUMAN	A	224;34	ENSP00000286371:V224A;ENSP00000418353:V34A	ENSP00000286371:V224A	V	+	2	0	ATP1B3	143127064	0.957000	0.32711	0.226000	0.23910	0.093000	0.18481	0.330000	0.19715	0.064000	0.16427	0.533000	0.62120	GTT		0.378	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679	Missense_Mutation	131	558	0	0	0	1	0	131	558					C	141644374	T	C	141644374	5	2	79	1	0	0	0	0	0	0	1	0	1135	1739	60	4	697	4	ATP1B3	3	141644374	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117716	141644374	56378056	4684	15001											
XRN1	54464	broad.mit.edu	37	chr3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacataaacttactttctccTagatcctcttccaataaaaa	1	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2824-2826)Agg>Ggg		5'-3' exoribonuclease 1							31	33	32					3																	142095328		2198	4297	6495	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142095328T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2824A>G	3.37:g.142095328T>C	ENSP00000264951:p.Arg942Gly					XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			24	2941	-			942					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2824A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971976	0.74246	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.53	5.53	0.82687	.	0.054497	0.85682	D	0.000000	T	0.31702	0.0805	L	0.56280	1.765	0.80722	D	1	B;B;B	0.18166	0.026;0.016;0.002	B;B;B	0.15484	0.008;0.013;0.002	T	0.04664	-1.0935	10	0.34782	T	0.22	-14.6321	15.6489	0.77076	0.0:0.0:0.0:1.0	.	803;942;942	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	G	942	ENSP00000264951:R942G;ENSP00000376707:R942G	ENSP00000264951:R942G	R	-	1	2	XRN1	143578018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.112000	0.64535	0.482000	0.46254	AGG		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	142	0	0	0	1	0	37	142					C	142095328	T	C	142095328	3	2	79	1	0	0	0	0	1	0	0	0	17513	1521	53	4	2372	4	XRN1	3	142095328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	450954	142095328	55927102	4685	15002											
ATR	545	broad.mit.edu	37	chr3	142168272	142168272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttttacataatttcatttCacatatatggagtccaacca	3	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|ATR_ENST00000383101.3_Silent_p.*2581*|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	0					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTTCATTTCACATATATGG	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7933-7935)tGa>tAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							75	79	78					3																	142168272		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168272C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7934G>A	3.37:g.142168272C>T						ATR_ENST00000383101.3_Silent_p.*2581*	p.*2645*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			47	8055	-			0					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7934G>A	CCDS3124.1																																																																																				0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		61	264	0	0	0	1	0	61	264					T	142168272	C	T	142168272	2	4	79	1	0	0	0	0	0	0	0	1	1205	837	29	2		2	ATR	3	142168272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72944	142168272	55854158	4686	15003											
ATR	545	broad.mit.edu	37	chr3	142186836	142186836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcatctccaacaaacttCtctaaggattttttcatatg	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	ATR_ENST00000383101.3_Silent_p.E2145E|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2209					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACAAACTTCTCTAAGGATT	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6625-6627)gaG>gaA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							121	128	126					3																	142186836		2202	4298	6500	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142186836C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6627G>A	3.37:g.142186836C>T						RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.E2145E	p.E2209E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			39	6748	-			2209					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6627G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817999	0.16607	.	.	ENSG00000175054	ENST00000513291	T	0.13538	2.58	5.84	1.08	0.20341	.	0.150804	0.64402	D	0.000014	T	0.08133	0.0203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18935	-1.0321	7	0.07030	T	0.85	-23.6448	9.963	0.41708	0.0:0.3146:0.0:0.6854	.	.	.	.	K	56	ENSP00000424355:E56K	ENSP00000424355:E56K	E	-	1	0	ATR	143669526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.663000	0.25053	0.491000	0.27793	-0.229000	0.12294	GAA		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		29	375	0	0	0	1	0	29	375					T	142186836	C	T	142186836	2	4	79	1	0	0	0	0	0	0	0	1	1205	912	32	2		2	ATR	3	142186836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18564	142186836	55835594	4687	15004											
ATR	545	broad.mit.edu	37	chr3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaagttagctgtttcttCcataaatcggcccactagta	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2011	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGTTTCTTCCATAAATCGG	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6031-6033)Gaa>Aaa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							98	97	98					3																	142212021		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142212021C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6031G>A	3.37:g.142212021C>T	ENSP00000343741:p.Glu2011Lys					ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	p.E2011K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			35	6152	-			2011			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6031G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767804	0.96914	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.71	5.71	0.89125	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78976	-0.1991	10	0.29301	T	0.29	-7.6986	19.8635	0.96793	0.0:1.0:0.0:0.0	.	2011	Q13535	ATR_HUMAN	K	2011;1947	ENSP00000343741:E2011K;ENSP00000372581:E1947K	ENSP00000343741:E2011K	E	-	1	0	ATR	143694711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.700000	0.92200	0.650000	0.86243	GAA		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		51	208	0	0	0	1	0	51	208					T	142212021	C	T	142212021	3	4	79	1	0	0	0	0	1	0	0	0	1205	864	30	2	1955	2	ATR	3	142212021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25185	142212021	55810409	4688	15005											
ATR	545	broad.mit.edu	37	chr3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacatacaccagaatatgtGgaagaagatagatggtcact	10	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1530					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAATATGTGGAAGAAGATA	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4588-4590)cCa>cAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							134	122	126					3																	142232395		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142232395G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4589C>A	3.37:g.142232395G>T	ENSP00000343741:p.Pro1530Gln					ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	p.P1530Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			26	4710	-			1530					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4589C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669772	0.88348	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.39056	1.1;1.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74842	-0.3527	10	0.87932	D	0	-13.4082	18.397	0.90502	0.0:0.0:1.0:0.0	.	1530	Q13535	ATR_HUMAN	Q	1530;1466	ENSP00000343741:P1530Q;ENSP00000372581:P1466Q	ENSP00000343741:P1530Q	P	-	2	0	ATR	143715085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.415000	0.81967	0.491000	0.48974	CCA		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		56	279	1	0	1.22119e-34	1	1.45331e-34	56	279					T	142232395	G	T	142232395	3	4	79	1	0	0	0	0	1	0	0	0	1205	1348	47	3	3433	3	ATR	3	142232395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20374	142232395	55790035	4689	15006											
ATR	545	broad.mit.edu	37	chr3	142241618	142241618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggctattatcagcataCgcaaggtaagctcttgttag	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1406					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATCAGCATACGCAAGGTAAG	0.363								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4216-4218)gcG>gcA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							130	134	132					3																	142241618		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142241618C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4218G>A	3.37:g.142241618C>T						ATR_ENST00000383101.3_Silent_p.A1342A	p.A1406A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			23	4339	-			1406					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.4218G>A	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		44	479	0	0	0	1	0	44	479					T	142241618	C	T	142241618	2	4	79	1	0	0	0	0	0	0	0	1	1205	523	19	1		1	ATR	3	142241618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9223	142241618	55780812	4690	15007											
ATR	545	broad.mit.edu	37	chr3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcttttccttgagttTcagttgttgagaaatctaat	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1375					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCTTGAGTTTCAGTTGTTGA	0.393								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4123-4125)gAa>gGa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							116	111	113					3																	142242863		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242863T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4124A>G	3.37:g.142242863T>C	ENSP00000343741:p.Glu1375Gly					ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	p.E1375G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			22	4245	-			1375					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4124A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027794	0.54790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05925	3.37;3.85	5.39	5.39	0.77823	Armadillo-like helical (1);	0.285567	0.39475	N	0.001353	T	0.05823	0.0152	N	0.24115	0.695	0.49051	D	0.999744	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.23891	T	0.37	-9.1976	15.69	0.77442	0.0:0.0:0.0:1.0	.	1375	Q13535	ATR_HUMAN	G	1375;1311	ENSP00000343741:E1375G;ENSP00000372581:E1311G	ENSP00000343741:E1375G	E	-	2	0	ATR	143725553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.812000	0.69194	2.150000	0.67090	0.533000	0.62120	GAA		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		17	532	0	0	0	1	0	17	532					C	142242863	T	C	142242863	3	2	79	1	0	0	0	0	1	0	0	0	1205	1783	62	4	3914	4	ATR	3	142242863	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1245	142242863	55779567	4691	15008											
ATR	545	broad.mit.edu	37	chr3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgtatttaaagccatttctCtctggtgagccacatcttgt	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	968					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCCATTTCTCTCTGGTGAGC	0.403								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(2902-2904)aGa>aTa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							151	139	143					3																	142269047		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142269047C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2903G>T	3.37:g.142269047C>A	ENSP00000343741:p.Arg968Ile					ATR_ENST00000383101.3_Missense_Mutation_p.R904I	p.R968I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			14	3024	-			968					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2903G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571103	0.65765	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.70282	-0.47;-0.47	5.47	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.052909	0.85682	D	0.000000	T	0.53302	0.1788	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.53027	-0.8496	10	0.17832	T	0.49	-18.6483	15.1389	0.72595	0.0:0.9203:0.0:0.0797	.	968	Q13535	ATR_HUMAN	I	968;904	ENSP00000343741:R968I;ENSP00000372581:R904I	ENSP00000343741:R968I	R	-	2	0	ATR	143751737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.959000	0.70339	2.561000	0.86390	0.591000	0.81541	AGA		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		72	373	1	0	3.78398e-24	1	4.31794e-24	72	373					A	142269047	C	A	142269047	3	1	79	1	0	0	0	0	1	0	0	0	1205	913	32	3	5167	3	ATR	3	142269047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26184	142269047	55753383	4692	15009											
ATR	545	broad.mit.edu	37	chr3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctatggaggtaaaccaaGtcttcaaaaagttgtaataa	7	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	155					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTAAACCAAGTCTTCAAAAA	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(463-465)gaC>gaA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							73	81	78					3																	142281779		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281779G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.465C>A	3.37:g.142281779G>T	ENSP00000343741:p.Asp155Glu					ATR_ENST00000383101.3_Missense_Mutation_p.D155E	p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	586	-			155					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.465C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546167	0.45383	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.78	-2.14	0.07123	Armadillo-type fold (1);	0.051870	0.64402	D	0.000001	T	0.50616	0.1626	M	0.63428	1.95	0.26028	N	0.981785	B	0.33857	0.429	B	0.27608	0.081	T	0.46317	-0.9200	10	0.23891	T	0.37	-14.3611	13.4513	0.61172	0.6071:0.0:0.3929:0.0	.	155	Q13535	ATR_HUMAN	E	155	ENSP00000343741:D155E;ENSP00000372581:D155E	ENSP00000343741:D155E	D	-	3	2	ATR	143764469	0.998000	0.40836	0.990000	0.47175	0.974000	0.67602	0.455000	0.21843	-0.237000	0.09739	0.591000	0.81541	GAC		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		85	467	1	0	7.7321e-48	1	9.52824e-48	85	467					T	142281779	G	T	142281779	3	4	79	1	0	0	0	0	1	0	0	0	1205	1020	36	3	7645	3	ATR	3	142281779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12732	142281779	55740651	4693	15010											
PLS1	5357	broad.mit.edu	37	chr3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcctaaacttaatttagCttttgtagctaatttgttta	4	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000497002.1_Missense_Mutation_p.A366V|PLS1_ENST00000457734.2_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	366	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1096-1098)gCt>gTt		plastin 1							121	115	117					3																	142408575		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142408575C>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1097C>T	3.37:g.142408575C>T	ENSP00000336831:p.Ala366Val					PLS1_ENST00000497002.1_Missense_Mutation_p.A366V|PLS1_ENST00000457734.2_Missense_Mutation_p.A366V	p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			10	1310	+			366			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1097C>T	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370985	0.95923	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95272	-3.66;-3.66;-3.66	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.94847	3.59	0.80722	D	1	D	0.61080	0.989	P	0.48982	0.597	D	0.97934	1.0322	10	0.87932	D	0	-14.021	19.8966	0.96963	0.0:1.0:0.0:0.0	.	366	Q14651	PLSI_HUMAN	V	366	ENSP00000387890:A366V;ENSP00000336831:A366V;ENSP00000418700:A366V	ENSP00000336831:A366V	A	+	2	0	PLS1	143891265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.748000	0.85085	2.700000	0.92200	0.655000	0.94253	GCT		0.408	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		83	349	0	0	0	1	0	83	349					T	142408575	C	T	142408575	3	4	79	1	0	0	0	0	1	0	0	0	12149	797	28	2	1131	2	PLS1	3	142408575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126796	142408575	55613855	4694	15011											
PLS1	5357	broad.mit.edu	37	chr3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggactgaacagaaTaaaataatcatttcatatga	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000497002.1_Missense_Mutation_p.I628T|PLS1_ENST00000457734.2_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	628						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1882-1884)aTa>aCa		plastin 1							97	95	96					3																	142430842		2203	4299	6502	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142430842T>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1883T>C	3.37:g.142430842T>C	ENSP00000336831:p.Ile628Thr					PLS1_ENST00000497002.1_Missense_Mutation_p.I628T|PLS1_ENST00000457734.2_Missense_Mutation_p.I628T	p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			16	2096	+			628					A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1883T>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486437	0.44147	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	T;T;T	0.51071	0.72;0.72;0.72	5.69	5.69	0.88448	.	0.492528	0.25701	N	0.028867	T	0.34687	0.0906	N	0.14661	0.345	0.32581	N	0.528457	B	0.09022	0.002	B	0.08055	0.003	T	0.44574	-0.9319	10	0.87932	D	0	-4.7218	15.9507	0.79835	0.0:0.0:0.0:1.0	.	628	Q14651	PLSI_HUMAN	T	628	ENSP00000387890:I628T;ENSP00000336831:I628T;ENSP00000418700:I628T	ENSP00000336831:I628T	I	+	2	0	PLS1	143913532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.178000	0.69098	0.454000	0.30748	ATA		0.373	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		110	446	0	0	0	1	0	110	446					C	142430842	T	C	142430842	3	2	79	1	0	0	0	0	1	0	0	0	12149	1406	49	4	1941	4	PLS1	3	142430842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22267	142430842	55591588	4695	15012											
TRPC1	7220	broad.mit.edu	37	chr3	142443464	142443464	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctccctgccttcCtctccatcctcttcctcgcc	2	24	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000476941.1	+	1	549	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000273482.6_Silent_p.S21S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	21					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(61-63)tcC>tcA		transient receptor potential cation channel, subfamily C, member 1							79	72	74					3																	142443464		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142443464C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.63C>A	3.37:g.142443464C>A						TRPC1_ENST00000476941.1_Silent_p.S21S	p.S21S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			1	454	+			21					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.63C>A	CCDS58856.1																																																																																				0.642	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		32	99	1	0	1.88708e-17	1	2.08396e-17	32	99					A	142443464	C	A	142443464	2	1	79	1	0	0	0	0	0	0	0	1	16631	668	24	3		3	TRPC1	3	142443464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12622	142443464	55578966	4696	15013											
TRPC1	7220	broad.mit.edu	37	chr3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtatctctacccaagCcccatgcagttggctgtgaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000476941.1	+	4	1048	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P154S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	188					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(460-462)Ccc>Tcc		transient receptor potential cation channel, subfamily C, member 1							167	172	170					3																	142467232		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142467232C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.562C>T	3.37:g.142467232C>T	ENSP00000419313:p.Pro188Ser					TRPC1_ENST00000476941.1_Missense_Mutation_p.P188S	p.P154S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			3	851	+			188					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.460C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038560	0.93630	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;T	0.81499	-1.5;0.66	5.59	5.59	0.84812	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93472	0.6820	10	0.87932	D	0	-24.4598	19.5934	0.95525	0.0:1.0:0.0:0.0	.	188;154	P48995;P48995-2	TRPC1_HUMAN;.	S	188;154	ENSP00000419313:P188S;ENSP00000273482:P154S	ENSP00000273482:P154S	P	+	1	0	TRPC1	143949922	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.641000	0.89580	0.460000	0.39030	CCC		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		172	648	0	0	0	1	0	172	648					T	142467232	C	T	142467232	3	4	79	1	0	0	0	0	1	0	0	0	16631	739	26	2	470	2	TRPC1	3	142467232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23768	142467232	55555198	4697	15014											
TRPC1	7220	broad.mit.edu	37	chr3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatattttctccttagCgcatgtggcaatctttgtca	8	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000476941.1	+	11	2291	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	TRPC1_ENST00000273482.6_Missense_Mutation_p.A568V|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	602					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(1702-1704)gCg>gTg		transient receptor potential cation channel, subfamily C, member 1							119	108	112					3																	142522866		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142522866C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1805C>T	3.37:g.142522866C>T	ENSP00000419313:p.Ala602Val					TRPC1_ENST00000476941.1_Missense_Mutation_p.A602V	p.A568V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			10	2094	+			602					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1703C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115998	0.37339	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98567	-5.0;-5.0	5.33	5.33	0.75918	Ion transport (1);	0.051544	0.85682	D	0.000000	D	0.95906	0.8667	N	0.25789	0.76	0.80722	D	1	D;D;B	0.59767	0.966;0.986;0.132	P;P;B	0.51355	0.575;0.667;0.016	D	0.94098	0.7359	10	0.02654	T	1	-23.4818	14.266	0.66118	0.1489:0.8511:0.0:0.0	.	568;602;568	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	V	602;568;121	ENSP00000419313:A602V;ENSP00000273482:A568V	ENSP00000273482:A568V	A	+	2	0	TRPC1	144005556	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	GCG		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		37	181	0	0	0	1	0	37	181					T	142522866	C	T	142522866	3	4	79	1	0	0	0	0	1	0	0	0	16631	768	27	1	1741	1	TRPC1	3	142522866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55634	142522866	55499564	4698	15015											
PCOLCE2	26577	broad.mit.edu	37	chr3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgattttgcctcgcccatCttcacctacttggcccataa	5	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000295992.3	-	9	1459	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	385	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1153-1155)Gat>Aat		procollagen C-endopeptidase enhancer 2							114	106	109					3																	142537272		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142537272C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1153G>A	3.37:g.142537272C>T	ENSP00000295992:p.Asp385Asn					PCOLCE2_ENST00000485766.1_3'UTR	p.D385N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			9	1459	-			385			NTR.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.1153G>A	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004047	0.93287	.	.	ENSG00000163710	ENST00000295992	T	0.30981	1.51	5.06	5.06	0.68205	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099828	0.64402	D	0.000002	T	0.31482	0.0798	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.28305	0.088	T	0.09271	-1.0682	10	0.16420	T	0.52	-22.7218	18.4156	0.90568	0.0:1.0:0.0:0.0	.	385	Q9UKZ9	PCOC2_HUMAN	N	385	ENSP00000295992:D385N	ENSP00000295992:D385N	D	-	1	0	PCOLCE2	144019962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.978000	0.76147	2.351000	0.79841	0.655000	0.94253	GAT		0.353	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		96	356	0	0	0	1	0	96	356					T	142537272	C	T	142537272	3	4	79	1	0	0	0	0	1	0	0	0	11637	913	32	2	98	2	PCOLCE2	3	142537272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14406	142537272	55485158	4699	15016											
PAQR9	344838	broad.mit.edu	37	chr3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggcgcgcagacgcagcGacaggcagctgaacacgtgc	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	146						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(436-438)tCg>tTg		progestin and adipoQ receptor family member IX							44	43	43					3																	142681742		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681742G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.437C>T	3.37:g.142681742G>A	ENSP00000341564:p.Ser146Leu						p.S146L	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	436	-			146					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.437C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225335	0.79576	.	.	ENSG00000188582	ENST00000340634	T	0.37235	1.21	4.62	4.62	0.57501	.	0.095555	0.44285	D	0.000468	T	0.61887	0.2383	M	0.75447	2.3	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.67875	-0.5557	10	0.87932	D	0	-20.5751	17.8396	0.88711	0.0:0.0:1.0:0.0	.	146	Q6ZVX9	PAQR9_HUMAN	L	146	ENSP00000341564:S146L	ENSP00000341564:S146L	S	-	2	0	PAQR9	144164432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.277000	0.76020	0.462000	0.41574	TCG		0.637	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		25	167	0	0	0	1	0	25	167					A	142681742	G	A	142681742	3	1	79	1	0	0	0	0	1	0	0	0	11484	1059	37	1	700	1	PAQR9	3	142681742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144470	142681742	55340688	4700	15017											
PAQR9	344838	broad.mit.edu	37	chr3	142681855	142681855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagggcacgtcgccgccGctcaggaagaacagacggca	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	108						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(322-324)agC>agT		progestin and adipoQ receptor family member IX							77	83	81					3																	142681855		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681855G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.324C>T	3.37:g.142681855G>A						RP11-372E1.6_ENST00000594095.1_RNA	p.S108S	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	323	-			108					Q147T6	Silent	SNP	ENST00000340634.3	37	c.324C>T	CCDS3128.1																																																																																				0.627	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		50	168	0	0	0	1	0	50	168					A	142681855	G	A	142681855	2	1	79	1	0	0	0	0	0	0	0	1	11484	1078	38	1		1	PAQR9	3	142681855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	142681855	55340575	4701	15018											
SR140	23350	broad.mit.edu	37	chr3	142739482	142739482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagacataaaacaaaaggcaGattaagtcgatttgaacctc	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142739482G>A	ENST00000473835.2	+	8	770	c.680G>A	c.(679-681)aGa>aAa	p.R227K	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R227K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	227					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACAAAAGGCAGATTAAGTCGA	0.338																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(679-681)aGa>aAa		U2 snRNP-associated SURP domain containing							125	117	120					3																	142739482		1899	4122	6021	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142739482G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.680G>A	3.37:g.142739482G>A	ENSP00000418563:p.Arg227Lys					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R227K	p.R227K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			8	770	+			227					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.680G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431484	0.62844	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.10288	2.89;2.89	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.43152	1.355	0.80722	D	1	P;B;B	0.42649	0.786;0.39;0.27	B;B;B	0.40009	0.316;0.239;0.12	T	0.06570	-1.0819	10	0.06236	T	0.91	-15.294	19.8326	0.96642	0.0:0.0:1.0:0.0	.	227;227;227	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	K	227	ENSP00000418563:R227K;ENSP00000422011:R227K	ENSP00000322376:R227K	R	+	2	0	U2SURP	144222172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.811000	0.91954	2.686000	0.91538	0.591000	0.81541	AGA		0.338	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		12	94	0	0	0	1	0	12	94					A	142739482	G	A	142739482	3	1	79	1	0	0	0	0	1	0	0	0	15183	942	33	2	710	2	SR140	3	142739482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57627	142739482	55282948	4702	15019											
CHST2	9435	broad.mit.edu	37	chr3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggcgcgtttcgaggaGgagtgccgcaagtaccgcac	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	293					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(877-879)gaG>gaT		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							25	26	25					3																	142840537		2197	4298	6495	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840537G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.879G>T	3.37:g.142840537G>T	ENSP00000307911:p.Glu293Asp						p.E293D	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2263	+			293					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.879G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592743	0.66219	.	.	ENSG00000175040	ENST00000309575	D	0.96554	-4.05	4.38	0.464	0.16706	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.96065	0.8718	L	0.53561	1.675	0.39569	D	0.969251	D	0.61080	0.989	D	0.64321	0.924	D	0.93768	0.7072	10	0.45353	T	0.12	-18.7552	8.4754	0.33009	0.3951:0.0:0.6049:0.0	.	293	Q9Y4C5	CHST2_HUMAN	D	293	ENSP00000307911:E293D	ENSP00000307911:E293D	E	+	3	2	CHST2	144323227	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	0.494000	0.22467	0.143000	0.18926	-0.481000	0.04817	GAG		0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		18	57	1	0	1.67942e-08	1	1.75525e-08	18	57					T	142840537	G	T	142840537	3	4	79	1	0	0	0	0	1	0	0	0	3413	991	35	3	881	3	CHST2	3	142840537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101055	142840537	55181893	4703	15020											
CHST2	9435	broad.mit.edu	37	chr3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgagacccgcgagctcAccgcatgcccttcttggagg	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGAGCTCACCGCATGCCC	0.701																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1090-1092)cAc>cGc		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							20	24	23					3																	142840749		2201	4293	6494	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840749A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1091A>G	3.37:g.142840749A>G	ENSP00000307911:p.His364Arg						p.H364R	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2475	+			364					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1091A>G	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735448	0.15574	.	.	ENSG00000175040	ENST00000309575	D	0.96073	-3.9	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.077814	0.51477	D	0.000090	D	0.84520	0.5490	N	0.02802	-0.49	0.40449	D	0.980125	B	0.06786	0.001	B	0.09377	0.004	T	0.79374	-0.1830	10	0.10636	T	0.68	-0.7931	8.6097	0.33795	0.9136:0.0:0.0864:0.0	.	364	Q9Y4C5	CHST2_HUMAN	R	364	ENSP00000307911:H364R	ENSP00000307911:H364R	H	+	2	0	CHST2	144323439	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.052000	0.76634	1.882000	0.54519	0.334000	0.21626	CAC		0.701	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		10	243	0	0	0	1	0	10	243					G	142840749	A	G	142840749	3	3	79	1	0	0	0	0	1	0	0	0	3413	159	6	4	1093	4	CHST2	3	142840749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212	142840749	55181681	4704	15021											
C3orf58	205428	broad.mit.edu	37	chr3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtattcgaggcgtgggGccgcttgcgcctgctggact	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	78					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGCGTGGGGCCGCTTGCGC	0.682																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)gGc>gAc		chromosome 3 open reading frame 58							31	34	33					3																	143691407		2190	4271	6461	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691407G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.233G>A	3.37:g.143691407G>A	ENSP00000320081:p.Gly78Asp						p.G78D	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			1	768	+			78					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.233G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641408	0.67244	.	.	ENSG00000181744	ENST00000315691	T	0.29917	1.55	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	D	0.54964	0.969	P	0.54431	0.752	T	0.05869	-1.0859	10	0.09590	T	0.72	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	78	Q8NDZ4	CC058_HUMAN	D	78	ENSP00000320081:G78D	ENSP00000320081:G78D	G	+	2	0	C3orf58	145174097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GGC		0.682	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		55	280	0	0	0	1	0	55	280					A	143691407	G	A	143691407	3	1	79	1	0	0	0	0	1	0	0	0	2243	1203	42	2	235	2	C3orf58	3	143691407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	850658	143691407	54331023	4705	15022											
C3orf58	205428	broad.mit.edu	37	chr3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaaacgagttgacctcGcttggcaattaatggaaata	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000315691.3	+	2	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	264					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACCTCGCTTGGCAATT	0.418																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(790-792)Gct>Act		chromosome 3 open reading frame 58							185	171	176					3																	143704517		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704517G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.790G>A	3.37:g.143704517G>A	ENSP00000320081:p.Ala264Thr					C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T	p.A264T	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1325	+			264					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.790G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328449	0.95733	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.80623	-0.1300	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	55;264	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	T	264;55;70;26	ENSP00000320081:A264T	ENSP00000320081:A264T	A	+	1	0	C3orf58	145187207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.392000	0.81423	0.563000	0.77884	GCT		0.418	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		173	751	0	0	0	1	0	173	751					A	143704517	G	A	143704517	3	1	79	1	0	0	0	0	1	0	0	0	2243	1087	38	1	830	1	C3orf58	3	143704517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13110	143704517	54317913	4706	15023											
C3orf58	205428	broad.mit.edu	37	chr3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttgcactctacctcctgGacgtcagctttgacaatttt	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000315691.3	+	2	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	287					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTCCTGGACGTCAGCTT	0.403																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(859-861)Gac>Aac		chromosome 3 open reading frame 58							167	151	156					3																	143704586		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704586G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.859G>A	3.37:g.143704586G>A	ENSP00000320081:p.Asp287Asn					C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N	p.D287N	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1394	+			287					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.859G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281599	0.95489	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55052	0.54	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.981	T	0.78130	-0.2324	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	78;287	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	N	287;78;93;49	ENSP00000320081:D287N	ENSP00000320081:D287N	D	+	1	0	C3orf58	145187276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC		0.403	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		82	818	0	0	0	1	0	82	818					A	143704586	G	A	143704586	3	1	79	1	0	0	0	0	1	0	0	0	2243	1174	41	2	899	2	C3orf58	3	143704586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	143704586	54317844	4707	15024											
C3orf58	205428	broad.mit.edu	37	chr3	143708593	143708593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaggccttgctggatgaGtgtgccaacccaaagaagcg	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000441925.2_Silent_p.E163E	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	401					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1201-1203)gaG>gaA		chromosome 3 open reading frame 58							85	87	86					3																	143708593		2203	4300	6503	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143708593G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1203G>A	3.37:g.143708593G>A						C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E	p.E401E	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1738	+			401					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.1203G>A	CCDS3130.1																																																																																				0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		64	294	0	0	0	1	0	64	294					A	143708593	G	A	143708593	2	1	79	1	0	0	0	0	0	0	0	1	2243	1020	36	2		2	C3orf58	3	143708593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4007	143708593	54313837	4708	15025											
PLSCR4	57088	broad.mit.edu	37	chr3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtcaaaatggtcagCatctgccattgctgataaca	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	289					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(865-867)Gct>Act		phospholipid scramblase 4							176	143	154					3																	145912991		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145912991C>T	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.865G>A	3.37:g.145912991C>T	ENSP00000347038:p.Ala289Thr					PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T	p.A289T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			8	1105	-			289					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.865G>A	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960136	0.34565	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	3.87	0.44632	.	0.106971	0.41823	D	0.000804	T	0.34221	0.0890	L	0.49640	1.575	0.31693	N	0.641593	P;P	0.49185	0.58;0.92	B;P	0.50860	0.365;0.652	T	0.41466	-0.9507	10	0.46703	T	0.11	.	7.3351	0.26605	0.1703:0.7433:0.0:0.0864	.	199;289	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	289;199;184;289;289	ENSP00000347038:A289T;ENSP00000372561:A199T;ENSP00000415605:A184T;ENSP00000399315:A289T;ENSP00000419040:A289T	ENSP00000347038:A289T	A	-	1	0	PLSCR4	147395681	0.591000	0.26824	0.981000	0.43875	0.012000	0.07955	0.804000	0.27098	1.334000	0.45468	-0.282000	0.10007	GCT		0.428	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		69	341	0	0	0	1	0	69	341					T	145912991	C	T	145912991	3	4	79	1	0	0	0	0	1	0	0	0	12154	710	25	2	132	2	PLSCR4	3	145912991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2204398	145912991	52109439	4709	15026											
PLSCR2	57047	broad.mit.edu	37	chr3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctgctgcaaaataaAtcctctgcccaaagctgttc	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	127					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(379-381)aTt>aCt		phospholipid scramblase 2							101	106	104					3																	146173186		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173186A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.380T>C	3.37:g.146173186A>G	ENSP00000420132:p.Ile127Thr					PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	p.I127T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			6	819	-			54					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.380T>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117965	0.77323	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.25912	1.77;1.77;1.77	3.1	3.1	0.35709	.	0.167404	0.24012	U	0.042371	T	0.46964	0.1420	M	0.85462	2.755	0.25922	N	0.983107	P;P	0.46578	0.88;0.772	P;B	0.54544	0.755;0.345	T	0.43228	-0.9404	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	147;54	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	54;146;127;54	ENSP00000338707:I54T;ENSP00000420132:I127T;ENSP00000418444:I54T	ENSP00000338707:I54T	I	-	2	0	PLSCR2	147655876	0.945000	0.32115	0.003000	0.11579	0.862000	0.49288	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATT		0.353	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		89	407	0	0	0	1	0	89	407					G	146173186	A	G	146173186	3	3	79	1	0	0	0	0	1	0	0	0	12152	101	4	4	529	4	PLSCR2	3	146173186	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260195	146173186	51849244	4710	15027											
ZIC4	84107	broad.mit.edu	37	chr3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcggcggtacgcgccGccaccgccgccgaggaggcc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000383075.3	-	4	1489	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	326						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(976-978)gCg>gTg		Zic family member 4							13	17	16					3																	147108745		2012	4130	6142	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108745G>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.977C>T	3.37:g.147108745G>A	ENSP00000372553:p.Ala326Val					ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V	p.A326V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1489	-			326					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.977C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812991	0.32053	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11930	2.81;2.79;2.73;2.81;2.81;2.76	5.18	2.38	0.29361	.	0.655713	0.12653	N	0.450327	T	0.04724	0.0128	N	0.02765	-0.5	0.30740	N	0.7463139999999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.41502	-0.9505	9	0.02654	T	1	.	9.5086	0.39062	0.2357:0.0:0.7643:0.0	.	376;326	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	326;364;376;326;326;120	ENSP00000372553:A326V;ENSP00000397695:A364V;ENSP00000435509:A376V;ENSP00000417855:A326V;ENSP00000420775:A326V;ENSP00000418277:A120V	ENSP00000372553:A326V	A	-	2	0	ZIC4	148591435	0.000000	0.05858	0.835000	0.33067	0.798000	0.45092	0.609000	0.24238	0.190000	0.20209	0.561000	0.74099	GCG		0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			31	168	0	0	0	1	0	31	168					A	147108745	G	A	147108745	3	1	79	1	0	0	0	0	1	0	0	0	17734	1087	38	1	35	1	ZIC4	3	147108745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935559	147108745	50913685	4711	15028											
ZIC4	84107	broad.mit.edu	37	chr3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgaggaggccacctgggActtgtggccgcagtccgacg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000383075.3	-	4	1461	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	317						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(949-951)Tcc>Ccc		Zic family member 4							20	26	24					3																	147108773		2092	4229	6321	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108773A>G	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.949T>C	3.37:g.147108773A>G	ENSP00000372553:p.Ser317Pro					ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P	p.S317P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1461	-			317					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.949T>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031833	0.07543	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.78;2.75;2.82;2.82;2.8	5.18	3.34	0.38264	.	0.305498	0.23266	N	0.050073	T	0.03608	0.0103	N	0.03029	-0.43	0.31564	N	0.657196	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.11182	T	0.66	.	6.6134	0.22763	0.1603:0.0:0.6942:0.1455	.	367;317	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	317;355;367;317;317;111	ENSP00000372553:S317P;ENSP00000397695:S355P;ENSP00000435509:S367P;ENSP00000417855:S317P;ENSP00000420775:S317P;ENSP00000418277:S111P	ENSP00000372553:S317P	S	-	1	0	ZIC4	148591463	1.000000	0.71417	0.566000	0.28421	0.106000	0.19336	4.339000	0.59322	0.531000	0.28639	-0.366000	0.07423	TCC		0.711	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			27	232	0	0	0	1	0	27	232					G	147108773	A	G	147108773	3	3	79	1	0	0	0	0	1	0	0	0	17734	275	10	4	63	4	ZIC4	3	147108773	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	147108773	50913657	4712	15029											
ZIC4	84107	broad.mit.edu	37	chr3	147108846	147108846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtagccagagctgggcggCggcgagcgcccgtgcacctt	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000383075.3	-	4	1388	c.876G>A	c.(874-876)ccG>ccA	p.P292P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	292						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(874-876)ccG>ccA		Zic family member 4							31	40	37					3																	147108846		2181	4281	6462	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108846C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.876G>A	3.37:g.147108846C>T						ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P	p.P292P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1388	-			292					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.876G>A	CCDS43160.1																																																																																				0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			60	267	0	0	0	1	0	60	267					T	147108846	C	T	147108846	2	4	79	1	0	0	0	0	0	0	0	1	17734	755	27	1		1	ZIC4	3	147108846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	147108846	50913584	4713	15030											
ZIC4	84107	broad.mit.edu	37	chr3	147108909	147108909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcgtgtagcacttgtcGcagccccgcaccttgcacgt	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000383075.3	-	4	1325	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(811-813)tgC>tgT		Zic family member 4							41	47	45					3																	147108909		2203	4300	6503	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108909G>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.813C>T	3.37:g.147108909G>A						ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C	p.C271C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1325	-			271					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.813C>T	CCDS43160.1																																																																																				0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			52	208	0	0	0	1	0	52	208					A	147108909	G	A	147108909	2	1	79	1	0	0	0	0	0	0	0	1	17734	1079	38	1		1	ZIC4	3	147108909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	147108909	50913521	4714	15031											
ZIC4	84107	broad.mit.edu	37	chr3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgtagcggaagaaagCgccaggaccgtggggcgcag	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000383075.3	-	3	855	c.343G>A	c.(343-345)Gct>Act	p.A115T	ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	115						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(343-345)Gct>Act		Zic family member 4							30	36	34					3																	147113984		2199	4298	6497	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113984C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.343G>A	3.37:g.147113984C>T	ENSP00000372553:p.Ala115Thr					ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron	p.A115T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	855	-			115					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.343G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511829	0.96402	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	4.98	0.66077	.	0.000000	0.45867	D	0.000338	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	165;115	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	115;153;165;115;115;115	ENSP00000372553:A115T;ENSP00000397695:A153T;ENSP00000435509:A165T;ENSP00000417855:A115T;ENSP00000420775:A115T;ENSP00000420627:A115T	ENSP00000372553:A115T	A	-	1	0	ZIC4	148596674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GCT		0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			66	233	0	0	0	1	0	66	233					T	147113984	C	T	147113984	3	4	79	1	0	0	0	0	1	0	0	0	17734	768	27	1	673	1	ZIC4	3	147113984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	147113984	50908446	4715	15032											
ZIC4	84107	broad.mit.edu	37	chr3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtcaggttcatgcccCcgtagccatgcagggctgcg	12	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000383075.3	-	3	808	c.296G>A	c.(295-297)gGg>gAg	p.G99E	ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	99						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(295-297)gGg>gAg		Zic family member 4							17	22	20					3																	147114031		2147	4266	6413	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114031C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.296G>A	3.37:g.147114031C>T	ENSP00000372553:p.Gly99Glu					ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron	p.G99E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	808	-			99					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.296G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902339	0.92035	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000258	T	0.59445	0.2194	M	0.68593	2.085	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.57009	0.621;0.811	T	0.64158	-0.6473	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	149;99	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	99;137;149;99;99;99	ENSP00000372553:G99E;ENSP00000397695:G137E;ENSP00000435509:G149E;ENSP00000417855:G99E;ENSP00000420775:G99E;ENSP00000420627:G99E	ENSP00000372553:G99E	G	-	2	0	ZIC4	148596721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GGG		0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			46	158	0	0	0	1	0	46	158					T	147114031	C	T	147114031	3	4	79	1	0	0	0	0	1	0	0	0	17734	623	22	2	720	2	ZIC4	3	147114031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	147114031	50908399	4716	15033											
ZIC4	84107	broad.mit.edu	37	chr3	147114110	147114110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaagggctccggccgcgCgtacatgtctccagggagcc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	ENST00000383075.3	-	3	729	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	73						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCGGCCGCGCGTACATGTCT	0.716																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(217-219)Gcg>Acg		Zic family member 4							10	13	12					3																	147114110		1881	4072	5953	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114110C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.217G>A	3.37:g.147114110C>T	ENSP00000372553:p.Ala73Thr					ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron	p.A73T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	729	-			73					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.217G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475912	0.63737	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.01	4.13	0.48395	.	0.364730	0.20039	N	0.100557	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	D;B	0.56746	0.977;0.219	P;B	0.44673	0.457;0.013	T	0.01266	-1.1401	10	0.35671	T	0.21	.	9.2434	0.37511	0.0:0.8383:0.0:0.1617	.	123;73	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	73;111;123;73;73;73;73	ENSP00000372553:A73T;ENSP00000397695:A111T;ENSP00000435509:A123T;ENSP00000417855:A73T;ENSP00000420775:A73T;ENSP00000420627:A73T	ENSP00000372553:A73T	A	-	1	0	ZIC4	148596800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.565000	0.36386	2.321000	0.78463	0.561000	0.74099	GCG		0.716	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			28	104	0	0	0	1	0	28	104					T	147114110	C	T	147114110	3	4	79	1	0	0	0	0	1	0	0	0	17734	768	27	1	799	1	ZIC4	3	147114110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	147114110	50908320	4717	15034											
ZIC1	7545	broad.mit.edu	37	chr3	147128517	147128517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacgtgaacatggccgcGcatcacggcgccggcgcctt	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(616-618)gcG>gcA		Zic family member 1							42	45	44					3																	147128517		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128517G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.618G>A	3.37:g.147128517G>A							p.A206A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1347	+			206					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.618G>A	CCDS3136.1																																																																																				0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		63	202	0	0	0	1	0	63	202					A	147128517	G	A	147128517	2	1	79	1	0	0	0	0	0	0	0	1	17731	1074	38	1		1	ZIC1	3	147128517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14407	147128517	50893913	4718	15035											
ZIC1	7545	broad.mit.edu	37	chr3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccggcgccttcttccGctacatgcgccaacccatca	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(643-645)cGc>cAc		Zic family member 1							48	49	48					3																	147128543		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128543G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.644G>A	3.37:g.147128543G>A	ENSP00000282928:p.Arg215His						p.R215H	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1373	+			215					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.644G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000152977	ENST00000282928	T	0.47869	0.83	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76870	-0.2799	10	0.87932	D	0	.	16.1009	0.81169	0.0:0.0:1.0:0.0	.	215	Q15915	ZIC1_HUMAN	H	215	ENSP00000282928:R215H	ENSP00000282928:R215H	R	+	2	0	ZIC1	148611233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.763000	0.85283	1.847000	0.53656	0.549000	0.68633	CGC		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		48	196	0	0	0	1	0	48	196					A	147128543	G	A	147128543	3	1	79	1	0	0	0	0	1	0	0	0	17731	1087	38	1	646	1	ZIC1	3	147128543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	147128543	50893887	4719	15036											
ZIC1	7545	broad.mit.edu	37	chr3	147128793	147128793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatccgcgtgcacacgggCgagaagccctttccctgccc	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(892-894)ggC>ggT		Zic family member 1							94	97	96					3																	147128793		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128793C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.894C>T	3.37:g.147128793C>T							p.G298G	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1623	+			298					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.894C>T	CCDS3136.1																																																																																				0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		21	523	0	0	0	1	0	21	523					T	147128793	C	T	147128793	2	4	79	1	0	0	0	0	0	0	0	1	17731	755	27	1		1	ZIC1	3	147128793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	147128793	50893637	4720	15037											
ZIC1	7545	broad.mit.edu	37	chr3	147131179	147131179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcgcagccttcgccGgccgccagctctggctacga	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	395	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCTTCGCCGGCCGCCAGCT	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1183-1185)ccG>ccA		Zic family member 1							92	84	87					3																	147131179		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131179G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1185G>A	3.37:g.147131179G>A							p.P395P	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	1914	+			395			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1185G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311996	0.23821	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-2.35	0.06684	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	.	3.8539	0.08967	0.1738:0.4747:0.2441:0.1074	.	.	.	.	Q	84	.	.	R	+	2	0	ZIC1	148613869	0.105000	0.21958	0.996000	0.52242	0.964000	0.63967	-0.548000	0.06048	-0.442000	0.07190	0.462000	0.41574	CGG		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		100	453	0	0	0	1	0	100	453					A	147131179	G	A	147131179	2	1	79	1	0	0	0	0	0	0	0	1	17731	1103	39	1		1	ZIC1	3	147131179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2386	147131179	50891251	4721	15038											
ZIC1	7545	broad.mit.edu	37	chr3	147131305	147131305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagccggccacagtgcGctctcttccaattttaacga	7	15	1	0	rs564229372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1309-1311)gcG>gcA		Zic family member 1							97	89	92					3																	147131305		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131305G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1311G>A	3.37:g.147131305G>A							p.A437A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	2040	+			437			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1311G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882233	0.17467	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	H	126	.	.	R	+	2	0	ZIC1	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC		0.493	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		90	407	0	0	0	1	0	90	407					A	147131305	G	A	147131305	2	1	79	1	0	0	0	0	0	0	0	1	17731	1074	38	1		1	ZIC1	3	147131305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	147131305	50891125	4722	15039											
CPB1	1360	broad.mit.edu	37	chr3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctactgtgaaagaacttgCctcactgcacggcaccaagt	9	12	1	2	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000491148.1	+	11	1350	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	339						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1015-1017)gCc>gAc		carboxypeptidase B1 (tissue)							118	106	110					3																	148575278		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148575278C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.1016C>A	3.37:g.148575278C>A	ENSP00000417222:p.Ala339Asp					CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR	p.A339D			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1350	+			339					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.1016C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769244	0.49680	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11277	2.79;2.79	5.89	5.0	0.66597	Peptidase M14, carboxypeptidase A (2);	0.487974	0.24810	N	0.035419	T	0.13114	0.0318	L	0.55103	1.725	0.37101	D	0.899904	P	0.45634	0.863	B	0.41666	0.363	T	0.20338	-1.0278	10	0.17832	T	0.49	.	15.0493	0.71854	0.1431:0.8569:0.0:0.0	.	339	P15086	CBPB1_HUMAN	D	339	ENSP00000417222:A339D;ENSP00000282957:A339D	ENSP00000282957:A339D	A	+	2	0	CPB1	150057968	0.123000	0.22298	0.064000	0.19789	0.366000	0.29705	3.589000	0.53972	1.452000	0.47756	0.557000	0.71058	GCC		0.448	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		37	208	1	0	2.95478e-19	1	3.29235e-19	37	208					A	148575278	C	A	148575278	3	1	79	1	0	0	0	0	1	0	0	0	3805	739	26	3	1054	3	CPB1	3	148575278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1443973	148575278	49447152	4723	15040											
HPS3	84343	broad.mit.edu	37	chr3	148868428	148868428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgcagtgcggcggcAgctcgtgaggaggacccgta	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000296051.2	+	6	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_ENST00000460120.1_Silent_p.A237A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	402					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCGGCGGCAGCTCGTGAGG	0.517									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1204-1206)gcA>gcG		Hermansky-Pudlak syndrome 3							128	113	118					3																	148868428		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868428A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1206A>G	3.37:g.148868428A>G						HPS3_ENST00000460120.1_Silent_p.A237A	p.A402A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1346	+			402					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.1206A>G	CCDS3140.1																																																																																				0.517	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		56	289	0	0	0	1	0	56	289					G	148868428	A	G	148868428	2	3	79	1	0	0	0	0	0	0	0	1	7370	175	7	4		4	HPS3	3	148868428	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293150	148868428	49154002	4724	15041											
HPS3	84343	broad.mit.edu	37	chr3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcaggaactctttttcaAactcacatcacagtacatct	3	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000296051.2	+	13	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	801					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCTTTTTCAAACTCACATCA	0.453									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2401-2403)aAa>aGa		Hermansky-Pudlak syndrome 3							140	135	136					3																	148880586		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880586A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2402A>G	3.37:g.148880586A>G	ENSP00000296051:p.Lys801Arg					HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	p.K801R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2542	+			801					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2402A>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003406	0.07773	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63096	-0.02;-0.02	5.86	5.86	0.93980	.	0.100378	0.64402	D	0.000003	T	0.39911	0.1096	N	0.12746	0.255	0.80722	D	1	B;B	0.22276	0.013;0.067	B;B	0.18263	0.015;0.021	T	0.34453	-0.9828	10	0.10636	T	0.68	-26.16	10.8737	0.46899	0.9213:0.0:0.0787:0.0	.	636;801	G5E9V4;Q969F9	.;HPS3_HUMAN	R	801;636	ENSP00000296051:K801R;ENSP00000418230:K636R	ENSP00000296051:K801R	K	+	2	0	HPS3	150363276	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	4.735000	0.62051	2.242000	0.73789	0.460000	0.39030	AAA		0.453	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		104	373	0	0	0	1	0	104	373					G	148880586	A	G	148880586	3	3	79	1	0	0	0	0	1	0	0	0	7370	14	1	4	2452	4	HPS3	3	148880586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12158	148880586	49141844	4725	15042											
CP	1356	broad.mit.edu	37	chr3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtaggtttccaaacAttcttccattaatagctagg	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	965	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2893-2895)aTg>aCg		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						189	163	172					3																	148895751		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895751A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2894T>C	3.37:g.148895751A>G	ENSP00000264613:p.Met965Thr						p.M965T	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3156	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	965			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2894T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137328	0.56936	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99784	-6.74;-6.74;-6.74	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.236543	0.51477	D	0.000095	D	0.98839	0.9608	N	0.16201	0.385	0.51012	D	0.999904	B;P;B;B	0.39404	0.074;0.672;0.158;0.137	B;P;B;B	0.45474	0.096;0.482;0.135;0.276	D	0.99958	1.1678	10	0.33940	T	0.23	-8.8801	16.1149	0.81301	1.0:0.0:0.0:0.0	.	965;965;965;678	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	T	100;965;748	ENSP00000420367:M100T;ENSP00000264613:M965T;ENSP00000420545:M748T	ENSP00000264613:M965T	M	-	2	0	CP	150378441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.317000	0.96327	2.205000	0.71048	0.455000	0.32223	ATG		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		91	402	0	0	0	1	0	91	402					G	148895751	A	G	148895751	3	3	79	1	0	0	0	0	1	0	0	0	3796	217	8	4	315	4	CP	3	148895751	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15165	148895751	49126679	4726	15043											
CP	1356	broad.mit.edu	37	chr3	148925405	148925405	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgtatccattcacagCtgtaagtcaagagcagagtt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						60	59	59					3																	148925405		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925405C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.782-1G>T	3.37:g.148925405C>A								NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1044	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115059	0.77210	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150408095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.866000	0.98385	0.650000	0.86243	.		0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	42	234	1	0	1.48734e-19	1	1.65976e-19	42	234					A	148925405	C	A	148925405	5	1	79	1	0	0	0	0	0	0	1	0	3796	811	28	3	2476	3	CP	3	148925405	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29654	148925405	49097025	4727	15044											
CP	1356	broad.mit.edu	37	chr3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaataattccaatgtaatAatgcttttctttcgcccagg	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	24	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(70-72)Tat>Cat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						69	71	70					3																	148939510		2203	4299	6502	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148939510A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.70T>C	3.37:g.148939510A>G	ENSP00000264613:p.Tyr24His						p.Y24H	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	332	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	24			F5/8 type A 1.|Plastocyanin-like 1.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.70T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830786	0.71258	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99735	-5.42;-6.58	5.2	5.2	0.72013	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	L	0.60904	1.88	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98164	1.0448	10	0.62326	D	0.03	-29.6919	14.1762	0.65542	1.0:0.0:0.0:0.0	.	24;24	A8K5A4;P00450	.;CERU_HUMAN	H	24	ENSP00000264613:Y24H;ENSP00000426888:Y24H	ENSP00000264613:Y24H	Y	-	1	0	CP	150422200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.316000	0.59178	2.097000	0.63578	0.482000	0.46254	TAT		0.353	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		70	280	0	0	0	1	0	70	280					G	148939510	A	G	148939510	3	3	79	1	0	0	0	0	1	0	0	0	3796	362	13	4	3203	4	CP	3	148939510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14105	148939510	49082920	4728	15045											
TM4SF18	116441	broad.mit.edu	37	chr3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccagaaaaagcaattcCgagggaagaaaagataattg	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	100						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438																																						ENST00000296059.2																			0				lung(1)|ovary(1)|prostate(1)	3						c.(298-300)Gga>Aga		transmembrane 4 L six family member 18							73	72	72					3																	149042779		2203	4300	6503	SO:0001583	missense	116441					integral to membrane		g.chr3:149042779C>T	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.298G>A	3.37:g.149042779C>T	ENSP00000296059:p.Gly100Arg					TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	p.G100R	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	563	-			100					B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	c.298G>A	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599698	0.87055	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.85777	2.775	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.70403	-0.4881	10	0.87932	D	0	-13.8166	17.8373	0.88701	0.0:1.0:0.0:0.0	.	100	Q96CE8	T4S18_HUMAN	R	100	ENSP00000296059:G100R;ENSP00000419278:G100R;ENSP00000418372:G100R	ENSP00000296059:G100R	G	-	1	0	TM4SF18	150525469	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.520000	0.60524	2.745000	0.94114	0.655000	0.94253	GGA		0.438	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		38	165	0	0	0	1	0	38	165					T	149042779	C	T	149042779	3	4	79	1	0	0	0	0	1	0	0	0	16019	661	23	1	319	1	TM4SF18	3	149042779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103269	149042779	48979651	4729	15046											
WWTR1	25937	broad.mit.edu	37	chr3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagctattattagtgatgGatctcatgtctggggtcatc	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	RNU6-1098P_ENST00000516772.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	290					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(868-870)tCc>tTc		WW domain containing transcription regulator 1							182	190	187					3																	149245659		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149245659G>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.869C>T	3.37:g.149245659G>A	ENSP00000419465:p.Ser290Phe					WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F|WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F	p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		6	1125	-			290					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.869C>T	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074916	0.55646	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.50001	0.76;0.76;0.76	5.09	5.09	0.68999	.	0.529823	0.21552	N	0.072719	T	0.37265	0.0997	N	0.17082	0.46	0.34495	D	0.705368	B	0.06786	0.001	B	0.04013	0.001	T	0.46843	-0.9162	10	0.87932	D	0	-13.2046	18.9259	0.92544	0.0:0.0:1.0:0.0	.	290	Q9GZV5	WWTR1_HUMAN	F	290;290;290;148	ENSP00000419465:S290F;ENSP00000353847:S290F;ENSP00000419234:S290F	ENSP00000353847:S290F	S	-	2	0	WWTR1	150728349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.530000	0.85305	0.644000	0.83932	TCC		0.453	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		34	1045	0	0	0	1	0	34	1045					A	149245659	G	A	149245659	3	1	79	1	0	0	0	0	1	0	0	0	17471	1174	41	2	345	2	WWTR1	3	149245659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202880	149245659	48776771	4730	15047											
WWTR1	25937	broad.mit.edu	37	chr3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacctctggccagtggCcgtgaaggtcatctcccagc	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	136	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(406-408)Gcc>Acc		WW domain containing transcription regulator 1							31	28	29					3																	149374688		2149	4178	6327	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149374688C>T	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.406G>A	3.37:g.149374688C>T	ENSP00000419465:p.Ala136Thr					WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T	p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	662	-			136			WW.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.406G>A	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.09	4.22	0.49857	WW/Rsp5/WWP (6);	0.229124	0.44483	N	0.000444	T	0.74007	0.3660	L	0.35793	1.09	0.29446	N	0.858803	B	0.06786	0.001	B	0.08055	0.003	T	0.69213	-0.5204	10	0.66056	D	0.02	-13.2993	8.6679	0.34132	0.0:0.634:0.2783:0.0877	.	136	Q9GZV5	WWTR1_HUMAN	T	136	ENSP00000419465:A136T;ENSP00000353847:A136T;ENSP00000419234:A136T;ENSP00000418580:A136T	ENSP00000353847:A136T	A	-	1	0	WWTR1	150857378	0.056000	0.20664	1.000000	0.80357	0.944000	0.59088	0.302000	0.19192	1.135000	0.42183	0.462000	0.41574	GCC		0.647	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		17	189	0	0	0	1	0	17	189					T	149374688	C	T	149374688	3	4	79	1	0	0	0	0	1	0	0	0	17471	739	26	2	820	2	WWTR1	3	149374688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129029	149374688	48647742	4731	15048											
RNF13	11342	broad.mit.edu	37	chr3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaagacaattcatctgGcactttcatcgtgttaatta	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000392894.3_Missense_Mutation_p.G91D|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	91	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(271-273)gGc>gAc		ring finger protein 13							82	80	81					3																	149589892		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149589892G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.272G>A	3.37:g.149589892G>A	ENSP00000341361:p.Gly91Asp					RNF13_ENST00000361785.6_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.G91D	p.G91D	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		5	974	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	91			PA.		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.272G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699002	0.30142	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.14391	3.33;3.33;2.51;3.33;3.33;3.33	5.28	5.28	0.74379	Protease-associated domain, PA (1);	0.257441	0.43919	D	0.000519	T	0.13329	0.0323	L	0.56769	1.78	0.44890	D	0.997905	B	0.09022	0.002	B	0.15870	0.014	T	0.07501	-1.0769	10	0.13108	T	0.6	-13.7995	9.7831	0.40660	0.0906:0.0:0.9094:0.0	.	91	O43567	RNF13_HUMAN	D	91	ENSP00000376628:G91D;ENSP00000341361:G91D;ENSP00000420067:G91D;ENSP00000419069:G91D;ENSP00000417655:G91D;ENSP00000417294:G91D	ENSP00000341361:G91D	G	+	2	0	RNF13	151072582	0.033000	0.19621	0.267000	0.24556	0.845000	0.48019	1.079000	0.30766	2.756000	0.94617	0.655000	0.94253	GGC		0.308	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		32	166	0	0	0	1	0	32	166					A	149589892	G	A	149589892	3	1	79	1	0	0	0	0	1	0	0	0	13487	1203	42	2	282	2	RNF13	3	149589892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215204	149589892	48432538	4732	15049											
FAM194A	131831	broad.mit.edu	37	chr3	150403768	150403768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctccagctcatataaAatatttagtttcgactcttc	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATATAAAATATTTAGTT	0.328																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(649-651)atT>atC		family with sequence similarity 194, member A							106	116	113					3																	150403768		2200	4300	6500	SO:0001819	synonymous_variant	131831							g.chr3:150403768A>G																												ENST00000295910.6:c.651T>C	3.37:g.150403768A>G						FAM194A_ENST00000491361.1_Silent_p.I71I	p.I217I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			5	703	-			217						Silent	SNP	ENST00000295910.6	37	c.651T>C	CCDS3151.2																																																																																				0.328	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			92	389	0	0	0	1	0	92	389					G	150403768	A	G	150403768	2	3	79	1	0	0	0	0	0	0	0	1	5547	10	1	4		4	FAM194A	3	150403768	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	813876	150403768	47618662	4733	15050											
SIAH2	6478	broad.mit.edu	37	chr3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccaggtcaatctccGccggttcccattcaactcca	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(814-816)Cgg>Tgg		siah E3 ubiquitin protein ligase 2							91	72	78					3																	150460089		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460089G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.814C>T	3.37:g.150460089G>A	ENSP00000322457:p.Arg272Trp						p.R272W	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1341	-			272			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.814C>T	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039982	0.75732	.	.	ENSG00000181788	ENST00000312960	T	0.27256	1.68	5.81	3.95	0.45737	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.93939	3.475	0.49213	D	0.999767	D	0.89917	1.0	D	0.97110	1.0	T	0.71374	-0.4612	10	0.72032	D	0.01	.	14.2055	0.65732	0.0:0.0:0.4393:0.5607	.	272	O43255	SIAH2_HUMAN	W	272	ENSP00000322457:R272W	ENSP00000322457:R272W	R	-	1	2	SIAH2	151942779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.206000	0.51098	0.726000	0.32339	0.591000	0.81541	CGG		0.567	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		51	253	0	0	0	1	0	51	253					A	150460089	G	A	150460089	3	1	79	1	0	0	0	0	1	0	0	0	14350	1086	38	1	164	1	SIAH2	3	150460089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56321	150460089	47562341	4734	15051											
SIAH2	6478	broad.mit.edu	37	chr3	150460414	150460414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcaggagtagggacgGtattcacatatgtcttcatg	13	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	163	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(487-489)taC>taT		siah E3 ubiquitin protein ligase 2							119	102	108					3																	150460414		2203	4300	6503	SO:0001819	synonymous_variant	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460414G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.489C>T	3.37:g.150460414G>A							p.Y163Y	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1016	-			163			SBD.		O43270	Silent	SNP	ENST00000312960.3	37	c.489C>T	CCDS3152.1																																																																																				0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		67	278	0	0	0	1	0	67	278					A	150460414	G	A	150460414	2	1	79	1	0	0	0	0	0	0	0	1	14350	1256	44	2		2	SIAH2	3	150460414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325	150460414	47562016	4735	15052											
CLRN1	7401	broad.mit.edu	37	chr3	150645882	150645882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatatttttcactttgCgttttgtagacataagtccc	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T|RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	180					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368																																						ENST00000327047.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14						c.(538-540)acG>acA		clarin 1							71	75	73					3																	150645882		2203	4300	6503	SO:0001819	synonymous_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150645882C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.540G>A	3.37:g.150645882C>T						RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T|CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1-AS1_ENST00000476886.1_RNA	p.T180T	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	830	-			180					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.540G>A	CCDS3153.1																																																																																				0.368	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			54	220	0	0	0	1	0	54	220					T	150645882	C	T	150645882	2	4	79	1	0	0	0	0	0	0	0	1	3566	755	27	1		1	CLRN1	3	150645882	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185468	150645882	47376548	4736	15053											
MED12L	116931	broad.mit.edu	37	chr3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtgcccggcgtcttTccttgctgctgagcgatagc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	303						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCGTCTTTCCTTGCTGCT	0.557																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(907-909)Tcc>Ccc		mediator complex subunit 12-like							169	168	168					3																	150877688		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877688T>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.907T>C	3.37:g.150877688T>C	ENSP00000417235:p.Ser303Pro					MED12L_ENST00000422248.2_Missense_Mutation_p.S303P|MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron	p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	945	+			303					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.907T>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552794	0.65425	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	4.34	0.51931	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.195681	0.44902	D	0.000420	T	0.36936	0.0985	L	0.52573	1.65	0.80722	D	1	B;B;B	0.30361	0.157;0.039;0.277	B;B;B	0.36534	0.14;0.086;0.227	T	0.26744	-1.0094	10	0.87932	D	0	-8.2762	11.1394	0.48394	0.0:0.0:0.4103:0.5897	.	303;303;303	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	P	303	ENSP00000403308:S303P;ENSP00000310760:S303P;ENSP00000417235:S303P	ENSP00000310760:S303P	S	+	1	0	MED12L	152360378	0.991000	0.36638	0.956000	0.39512	0.991000	0.79684	2.493000	0.45320	1.014000	0.39417	0.459000	0.35465	TCC		0.557	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		203	846	0	0	0	1	0	203	846					C	150877688	T	C	150877688	3	2	79	1	0	0	0	0	1	0	0	0	9470	1783	62	4	933	4	MED12L	3	150877688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231806	150877688	47144742	4737	15054											
MED12L	116931	broad.mit.edu	37	chr3	150877748	150877748	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaccccacatgatgataGgaccaaacaactcgagtatc	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877748G>T	ENST00000474524.1	+	7	1005	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	323						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGATGATAGGACCAAACAA	0.607																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(967-969)Gga>Tga		mediator complex subunit 12-like							128	132	130					3																	150877748		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877748G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.967G>T	3.37:g.150877748G>T	ENSP00000417235:p.Gly323*					MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron	p.G323*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1005	+			323					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.967G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671110	0.97751	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	.	.	.	5.41	5.41	0.78517	.	0.130879	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.7336	18.813	0.92065	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000310760:G323X	G	+	1	0	MED12L	152360438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.323000	0.59221	2.533000	0.85409	0.561000	0.74099	GGA		0.607	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		184	837	1	0	9.35327e-79	1	1.19482e-78	184	837					T	150877748	G	T	150877748	4	4	79	1	0	0	0	0	0	1	0	0	9470	1001	35	3	993	3	MED12L	3	150877748	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	150877748	47144682	4738	15055											
MED12L	116931	broad.mit.edu	37	chr3	150881752	150881752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaataagagcgcaaacccaGgctcacccctggatctgctg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150881752G>T	ENST00000474524.1	+	8	1218	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	394						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCAAACCCAGGCTCACCCCT	0.502																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1180-1182)Ggc>Tgc		mediator complex subunit 12-like							62	59	60					3																	150881752		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150881752G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1180G>T	3.37:g.150881752G>T	ENSP00000417235:p.Gly394Cys					MED12L_ENST00000422248.2_Missense_Mutation_p.G394C|MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000273432.4_Intron	p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		8	1218	+			394					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1180G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698430	0.88830	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.62941	-0.01;-0.01;-0.01	5.02	5.02	0.67125	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.87180	2.865	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	0.86013	0.1502	10	0.87932	D	0	-15.4266	17.9376	0.89017	0.0:0.0:1.0:0.0	.	394;394;394	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	C	394	ENSP00000403308:G394C;ENSP00000310760:G394C;ENSP00000417235:G394C	ENSP00000310760:G394C	G	+	1	0	MED12L	152364442	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.950000	0.93019	2.317000	0.78254	0.655000	0.94253	GGC		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	330	1	0	5.4927e-09	1	5.7613e-09	9	330					T	150881752	G	T	150881752	3	4	79	1	0	0	0	0	1	0	0	0	9470	1000	35	3	1210	3	MED12L	3	150881752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4004	150881752	47140678	4739	15056											
MED12L	116931	broad.mit.edu	37	chr3	150903146	150903146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgatgaagctgtggtgacGctgttatgtgaatgggccgt	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000422248.2_Silent_p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTGGTGACGCTGTTATGTG	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1522-1524)acG>acA		mediator complex subunit 12-like							131	107	115					3																	150903146		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903146G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1524G>A	3.37:g.150903146G>A						MED12L_ENST00000422248.2_Silent_p.T508T|MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T	p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1562	+			508					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1524G>A	CCDS33876.1																																																																																				0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		66	284	0	0	0	1	0	66	284					A	150903146	G	A	150903146	2	1	79	1	0	0	0	0	0	0	0	1	9470	1074	38	1		1	MED12L	3	150903146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21394	150903146	47119284	4740	15057											
GPR171	29909	broad.mit.edu	37	chr3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgatgggaatcatcAtatttggcaccattataaga	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAATCATCATATTTGGCAC	0.378																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(448-450)aTg>aGg		G protein-coupled receptor 171							63	66	65					3																	150916725		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916725A>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.449T>G	3.37:g.150916725A>C	ENSP00000308479:p.Met150Arg					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.M150R	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	679	-			150					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.449T>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886297	0.72410	.	.	ENSG00000174946	ENST00000309180	T	0.37584	1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.64170	1.965	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.61520	-0.7046	10	0.72032	D	0.01	-34.7026	15.71	0.77620	1.0:0.0:0.0:0.0	.	150	O14626	GP171_HUMAN	R	150	ENSP00000308479:M150R	ENSP00000308479:M150R	M	-	2	0	GPR171	152399415	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	5.406000	0.66357	2.105000	0.64084	0.533000	0.62120	ATG		0.378	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		82	284	0	0	0	1	0	82	284					C	150916725	A	C	150916725	3	2	79	1	0	0	0	0	1	0	0	0	6697	217	8	4	514	4	GPR171	3	150916725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13579	150916725	47105705	4741	15058											
P2RY14	9934	broad.mit.edu	37	chr3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgatgctgaatatgttgCggctagatttctttttgacc	9	8	1	3	rs575550811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATATGTTGCGGCTAGATTT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20086	0.0		0.0	False		,,,				2504	0.001					ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(697-699)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 14							85	88	87					3																	150931407		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931407C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.698G>A	3.37:g.150931407C>T	ENSP00000308361:p.Arg233His					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1010	-			233					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.698G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263257	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.40225	1.04;1.04	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69557	0.3124	M	0.85197	2.74	0.40271	D	0.978282	D	0.89917	1.0	D	0.79108	0.992	T	0.67317	-0.5701	10	0.30854	T	0.27	-24.5079	20.2789	0.98501	0.0:1.0:0.0:0.0	.	233	Q15391	P2Y14_HUMAN	H	233	ENSP00000308361:R233H;ENSP00000408733:R233H	ENSP00000308361:R233H	R	-	2	0	P2RY14	152414097	0.958000	0.32768	1.000000	0.80357	0.496000	0.33645	3.959000	0.56744	2.788000	0.95919	0.650000	0.86243	CGC		0.388	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		108	437	0	0	0	1	0	108	437					T	150931407	C	T	150931407	3	4	79	1	0	0	0	0	1	0	0	0	11393	768	27	1	322	1	P2RY14	3	150931407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14682	150931407	47091023	4742	15059											
P2RY14	9934	broad.mit.edu	37	chr3	150931995	150931995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacactccattgagtaggAttcctgcaatgaagaccata	8	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931995A>G	ENST00000309170.3	-	3	422	c.110T>C	c.(109-111)aTc>aCc	p.I37T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGAGTAGGATTCCTGCAAT	0.443																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(109-111)aTc>aCc		purinergic receptor P2Y, G-protein coupled, 14							181	168	172					3																	150931995		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931995A>G	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.110T>C	3.37:g.150931995A>G	ENSP00000308361:p.Ile37Thr					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	422	-			37					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.110T>C	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274407	0.23307	.	.	ENSG00000174944	ENST00000309170;ENST00000424796;ENST00000494668	T;T;T	0.40476	1.03;1.03;1.03	5.71	4.55	0.56014	.	0.564366	0.16438	N	0.214433	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.21415	-1.0246	10	0.62326	D	0.03	-9.9284	11.4728	0.50280	0.9299:0.0:0.0701:0.0	.	37	Q15391	P2Y14_HUMAN	T	37	ENSP00000308361:I37T;ENSP00000408733:I37T;ENSP00000418065:I37T	ENSP00000308361:I37T	I	-	2	0	P2RY14	152414685	0.090000	0.21635	0.113000	0.21522	0.470000	0.32858	3.794000	0.55492	0.993000	0.38866	0.477000	0.44152	ATC		0.443	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		14	574	0	0	0	1	0	14	574					G	150931995	A	G	150931995	3	3	79	1	0	0	0	0	1	0	0	0	11393	333	12	4	910	4	P2RY14	3	150931995	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588	150931995	47090435	4743	15060											
GPR87	53836	broad.mit.edu	37	chr3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaaatggaaatgtcagcGtcattatgaggtctgcaacc	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	91					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(271-273)aCg>aTg		G protein-coupled receptor 87							139	138	138					3																	151012762		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012762G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.272C>T	3.37:g.151012762G>A	ENSP00000260843:p.Thr91Met					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.T91M	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	736	-			91					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.272C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257065	0.39896	.	.	ENSG00000138271	ENST00000260843	T	0.34072	1.38	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.138939	0.49916	D	0.000124	T	0.49150	0.1540	L	0.39020	1.185	0.44373	D	0.997276	D	0.76494	0.999	D	0.68943	0.961	T	0.48768	-0.9006	10	0.87932	D	0	-9.5583	14.5601	0.68130	0.0726:0.0:0.9274:0.0	.	91	Q9BY21	GPR87_HUMAN	M	91	ENSP00000260843:T91M	ENSP00000260843:T91M	T	-	2	0	GPR87	152495452	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	6.273000	0.72581	2.632000	0.89209	0.655000	0.94253	ACG		0.378	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			67	292	0	0	0	1	0	67	292					A	151012762	G	A	151012762	3	1	79	1	0	0	0	0	1	0	0	0	6745	1145	40	1	808	1	GPR87	3	151012762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80767	151012762	47009668	4744	15061											
P2RY13	53829	broad.mit.edu	37	chr3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggataaaaacagtccagaaAataaactggcatatgttatt	7	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358																																						ENST00000325602.5																			1	Substitution - Missense(1)	p.I195M(1)	ovary(1)	biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(646-648)atT>atG		purinergic receptor P2Y, G-protein coupled, 13							62	67	65					3																	151046196		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046196A>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.648T>G	3.37:g.151046196A>C	ENSP00000320376:p.Ile216Met					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.I216M	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	667	-			216					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.648T>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	P2RY13	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT		0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		55	243	0	0	0	1	0	55	243					C	151046196	A	C	151046196	3	2	79	1	0	0	0	0	1	0	0	0	11392	10	1	4	420	4	P2RY13	3	151046196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33434	151046196	46976234	4745	15062											
P2RY13	53829	broad.mit.edu	37	chr3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaacgacacacaaaagctCtgagctgccagggtgccagg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	112					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(334-336)aGa>aAa		purinergic receptor P2Y, G-protein coupled, 13							82	81	82					3																	151046509		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046509C>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.335G>A	3.37:g.151046509C>T	ENSP00000320376:p.Arg112Lys					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.R112K	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	354	-			112					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.335G>A	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608147	0.28623	.	.	ENSG00000181631	ENST00000325602	T	0.36520	1.25	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.105580	0.56097	D	0.000035	T	0.20333	0.0489	N	0.12961	0.28	0.09310	N	1	P	0.37083	0.581	B	0.41946	0.371	T	0.31696	-0.9934	10	0.05620	T	0.96	-16.0216	7.5497	0.27788	0.0:0.8056:0.0:0.1944	.	112	Q9BPV8	P2Y13_HUMAN	K	112	ENSP00000320376:R112K	ENSP00000320376:R112K	R	-	2	0	P2RY13	152529199	0.123000	0.22298	0.094000	0.20943	0.688000	0.40055	2.268000	0.43338	2.720000	0.93068	0.557000	0.71058	AGA		0.453	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		79	373	0	0	0	1	0	79	373					T	151046509	C	T	151046509	3	4	79	1	0	0	0	0	1	0	0	0	11392	913	32	2	733	2	P2RY13	3	151046509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313	151046509	46975921	4746	15063											
MED12L	116931	broad.mit.edu	37	chr3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtaactggagagaagaaCgataccaagatgacataaaa	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1504						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGAGAAGAACGATACCAAGA	0.348																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4510-4512)Cga>Tga		mediator complex subunit 12-like							60	60	60					3																	151100468		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151100468C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4510C>T	3.37:g.151100468C>T	ENSP00000417235:p.Arg1504*					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*	p.R1504*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		31	4548	+			1504					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.4510C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	45	11.838506	0.99609	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	4.05	0.47172	.	0.063424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7263	13.6449	0.62275	0.4138:0.5862:0.0:0.0	.	.	.	.	X	1504;1364	.	ENSP00000273432:R1364X	R	+	1	2	MED12L	152583158	1.000000	0.71417	0.692000	0.30179	0.958000	0.62258	4.564000	0.60830	0.761000	0.33130	0.650000	0.86243	CGA		0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	152	0	0	0	1	0	32	152					T	151100468	C	T	151100468	4	4	79	1	0	0	0	0	0	1	0	0	9470	528	19	1	4632	1	MED12L	3	151100468	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53959	151100468	46921962	4747	15064											
MED12L	116931	broad.mit.edu	37	chr3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgttcagcagcaggcctCgccgtacctgcagcccctga	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGGCCTCGCCGTACCTG	0.517																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6001-6003)tCg>tTg		mediator complex subunit 12-like							71	72	72					3																	151129262		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129262C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6002C>T	3.37:g.151129262C>T	ENSP00000417235:p.Ser2001Leu					MED12L_ENST00000273432.4_Intron	p.S2001L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	6040	+			2001			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6002C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	MED12L	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG		0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		66	409	0	0	0	1	0	66	409					T	151129262	C	T	151129262	3	4	79	1	0	0	0	0	1	0	0	0	9470	893	31	1	6156	1	MED12L	3	151129262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28794	151129262	46893168	4748	15065											
IGSF10	285313	broad.mit.edu	37	chr3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcataatcactaccaAgtgggttctttgctgtgcat	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2611	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACTACCAAGTGGGTTCTT	0.383																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7831-7833)cTt>cAt		immunoglobulin superfamily, member 10							121	121	121					3																	151154517		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154517A>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7832T>A	3.37:g.151154517A>T	ENSP00000282466:p.Leu2611His					IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	p.L2611H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7831	-			2611			Ig-like C2-type 12.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7832T>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780214	0.70222	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000993	T	0.70107	0.3186	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.969	T	0.71331	-0.4625	10	0.38643	T	0.18	.	15.5146	0.75812	1.0:0.0:0.0:0.0	.	2611;638	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	H	2611	ENSP00000282466:L2611H	ENSP00000282466:L2611H	L	-	2	0	IGSF10	152637207	1.000000	0.71417	0.075000	0.20258	0.984000	0.73092	8.851000	0.92205	2.123000	0.65237	0.533000	0.62120	CTT		0.383	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		122	589	0	0	0	1	0	122	589					T	151154517	A	T	151154517	3	4	79	1	0	0	0	0	1	0	0	0	7627	72	3	5	43	5	IGSF10	3	151154517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25255	151154517	46867913	4749	15066											
IGSF10	285313	broad.mit.edu	37	chr3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttgatggtcaaagacCcattggcatgaaatgtgtac	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2196	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAAAGACCCATTGGCATG	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(6586-6588)gGg>gAg		immunoglobulin superfamily, member 10							111	108	109					3																	151155762		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155762C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6587G>A	3.37:g.151155762C>T	ENSP00000282466:p.Gly2196Glu					IGSF10_ENST00000495443.1_5'UTR	p.G2196E	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6586	-			2196			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6587G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124812	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.35421	1.31	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133232	0.33980	N	0.004362	T	0.65491	0.2696	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	T	0.73014	-0.4116	10	0.72032	D	0.01	.	16.9292	0.86186	0.0:0.8721:0.1279:0.0	.	2196;223	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	E	2196	ENSP00000282466:G2196E	ENSP00000282466:G2196E	G	-	2	0	IGSF10	152638452	1.000000	0.71417	0.963000	0.40424	0.335000	0.28730	5.731000	0.68554	1.428000	0.47296	0.591000	0.81541	GGG		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		80	387	0	0	0	1	0	80	387					T	151155762	C	T	151155762	3	4	79	1	0	0	0	0	1	0	0	0	7627	623	22	2	1288	2	IGSF10	3	151155762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1245	151155762	46866668	4750	15067											
IGSF10	285313	broad.mit.edu	37	chr3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttaactgttgttagtgCtggcatgggagtagaatgta	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1554					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGTTAGTGCTGGCATGGGA	0.413																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4660-4662)Gca>Aca		immunoglobulin superfamily, member 10							177	178	177					3																	151163109		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163109C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4660G>A	3.37:g.151163109C>T	ENSP00000282466:p.Ala1554Thr						p.A1554T	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4659	-			1554					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4660G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725953	0.15439	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68624	-0.34	5.72	1.66	0.24008	.	0.321356	0.21865	N	0.067969	T	0.44138	0.1279	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.24006	0.05	T	0.16070	-1.0415	10	0.07990	T	0.79	.	1.8719	0.03210	0.166:0.4979:0.1608:0.1753	.	1554	Q6WRI0	IGS10_HUMAN	T	1554;181	ENSP00000282466:A1554T	ENSP00000282466:A1554T	A	-	1	0	IGSF10	152645799	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.788000	0.04614	0.333000	0.23563	0.644000	0.83932	GCA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		153	744	0	0	0	1	0	153	744					T	151163109	C	T	151163109	3	4	79	1	0	0	0	0	1	0	0	0	7627	797	28	2	3271	2	IGSF10	3	151163109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7347	151163109	46859321	4751	15068											
IGSF10	285313	broad.mit.edu	37	chr3	151165609	151165609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgttaattcccgataGttgtgcctcttacttgtgct	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	720					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCCGATAGTTGTGCCTCT	0.498																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2158-2160)aaC>aaT		immunoglobulin superfamily, member 10							87	71	76					3																	151165609		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165609G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2160C>T	3.37:g.151165609G>A							p.N720N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2159	-			720					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.2160C>T	CCDS3160.1																																																																																				0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		40	232	0	0	0	1	0	40	232					A	151165609	G	A	151165609	2	1	79	1	0	0	0	0	0	0	0	1	7627	1020	36	2		2	IGSF10	3	151165609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2500	151165609	46856821	4752	15069											
IGSF10	285313	broad.mit.edu	37	chr3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtccatttgtgtttcActggcctcatctctgctctt	6	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	468	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTGTTTCACTGGCCTCAT	0.463																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1402-1404)gTg>gCg		immunoglobulin superfamily, member 10							228	206	214					3																	151166366		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166366A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1403T>C	3.37:g.151166366A>G	ENSP00000282466:p.Val468Ala						p.V468A	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1402	-			468			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1403T>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019859	0.07634	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	5.08	-5.93	0.02254	Immunoglobulin-like (1);	0.951725	0.08579	N	0.924933	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38394	-0.9663	10	0.05620	T	0.96	.	3.7276	0.08481	0.2819:0.4251:0.0666:0.2264	.	468	Q6WRI0	IGS10_HUMAN	A	468	ENSP00000282466:V468A	ENSP00000282466:V468A	V	-	2	0	IGSF10	152649056	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.406000	0.07187	-0.821000	0.04312	0.454000	0.30748	GTG		0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		116	527	0	0	0	1	0	116	527					G	151166366	A	G	151166366	3	3	79	1	0	0	0	0	1	0	0	0	7627	159	6	4	6528	4	IGSF10	3	151166366	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	757	151166366	46856064	4753	15070											
AADACL2	344752	broad.mit.edu	37	chr3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctctcatttttacAcacccatgccagacaacatt	3	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	21						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCATTTTTACACACCCATGCC	0.383																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(61-63)Aca>Gca		arylacetamide deacetylase-like 2							135	131	133					3																	151451884		2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151451884A>G	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.61A>G	3.37:g.151451884A>G	ENSP00000348911:p.Thr21Ala						p.T21A	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	170	+			21					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.61A>G	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057794	0.36277	.	.	ENSG00000197953	ENST00000356517	T	0.04502	3.61	5.17	0.0266	0.14151	.	.	.	.	.	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45116	-0.9283	9	0.25751	T	0.34	-1.3311	3.274	0.06892	0.553:0.0:0.2783:0.1687	.	21	Q6P093	ADCL2_HUMAN	A	21	ENSP00000348911:T21A	ENSP00000348911:T21A	T	+	1	0	AADACL2	152934574	0.033000	0.19621	0.002000	0.10522	0.151000	0.21798	0.389000	0.20751	0.442000	0.26555	0.533000	0.62120	ACA		0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		32	180	0	0	0	1	0	32	180					G	151451884	A	G	151451884	3	3	79	1	0	0	0	0	1	0	0	0	11	159	6	4	63	4	AADACL2	3	151451884	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	285518	151451884	46570546	4754	15071											
AADACL2	344752	broad.mit.edu	37	chr3	151458616	151458616	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaacccgaaggcgagctgtGatatattttcatggtggtgg	14	6	1	1	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	107						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGCGAGCTGTGATATATTTTC	0.353																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(319-321)gtG>gtA		arylacetamide deacetylase-like 2							136	143	141					3																	151458616		2203	4300	6503	SO:0001819	synonymous_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151458616G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.321G>A	3.37:g.151458616G>A							p.V107V	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	430	+			107					Q5HYJ4	Silent	SNP	ENST00000356517.3	37	c.321G>A	CCDS3161.2																																																																																				0.353	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		76	341	0	0	0	1	0	76	341					A	151458616	G	A	151458616	2	1	79	1	0	0	0	0	0	0	0	1	11	1277	45	2		2	AADACL2	3	151458616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6732	151458616	46563814	4755	15072											
AADACL2	344752	broad.mit.edu	37	chr3	151463297	151463297	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattattctttctttaaagCtataggctggctcctcaaca	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151463297C>T	ENST00000356517.3	+	4	541	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	144						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTTTAAAGCTATAGGCTGG	0.343																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.e4-1		arylacetamide deacetylase-like 2							137	152	147					3																	151463297		2203	4299	6502	SO:0001630	splice_region_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463297C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.432-1C>T	3.37:g.151463297C>T							p.D144_splice	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	541	+			144					Q5HYJ4	Splice_Site	SNP	ENST00000356517.3	37	c.431_splice	CCDS3161.2																																																																																				0.343	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	Silent	23	1205	0	0	0	1	0	23	1205					T	151463297	C	T	151463297	5	4	79	1	0	0	0	0	0	0	1	0	11	811	28	2	446	2	AADACL2	3	151463297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4681	151463297	46559133	4756	15073											
AADACL2	344752	broad.mit.edu	37	chr3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttgttcatgaacatattGaggatggaattcatggagct	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	367						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAACATATTGAGGATGGAAT	0.343																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1099-1101)Gag>Aag		arylacetamide deacetylase-like 2							97	95	96					3																	151475275		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475275G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1099G>A	3.37:g.151475275G>A	ENSP00000348911:p.Glu367Lys					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.E367K	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1208	+			367					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1099G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389903	0.61956	.	.	ENSG00000197953	ENST00000356517	T	0.60040	0.22	5.15	5.15	0.70609	Alpha/beta hydrolase fold-3 (1);	0.443069	0.25958	N	0.027210	T	0.75155	0.3811	M	0.77486	2.375	0.28532	N	0.912553	D	0.60575	0.988	P	0.61722	0.893	T	0.71807	-0.4481	10	0.62326	D	0.03	-38.0713	18.4096	0.90546	0.0:0.0:1.0:0.0	.	367	Q6P093	ADCL2_HUMAN	K	367	ENSP00000348911:E367K	ENSP00000348911:E367K	E	+	1	0	AADACL2	152957965	0.938000	0.31826	0.362000	0.25862	0.547000	0.35210	1.698000	0.37794	2.683000	0.91414	0.591000	0.81541	GAG		0.343	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		70	355	0	0	0	1	0	70	355					A	151475275	G	A	151475275	3	1	79	1	0	0	0	0	1	0	0	0	11	1291	45	2	1117	2	AADACL2	3	151475275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11978	151475275	46547155	4757	15074											
SUCNR1	56670	broad.mit.edu	37	chr3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gataattaagtatcctttccGagaacaccttctgcaaaaga	6	9	1	2	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		21838	0.0		0.0	False		,,,				2504	0.0					ENST00000362032.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(385-387)cGa>cAa		succinate receptor 1	Succinic acid(DB00139)	G	GLN/ARG	42,4364	45.3+/-79.5	0,42,2161	119	117	118		386	5.2	1	3	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SUCNR1	NM_033050.4	43	0,44,6459	AA,AG,GG		0.0233,0.9532,0.3383	probably-damaging	129/335	151598717	44,12962	2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598717G>A	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.386G>A	3.37:g.151598717G>A	ENSP00000355156:p.Arg129Gln					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.R129Q	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	491	+			129					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.386G>A	CCDS3162.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.1	4.494259	0.85069	0.009532	2.33E-4	ENSG00000198829	ENST00000362032	T	0.40756	1.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.077402	0.51477	U	0.000095	T	0.49643	0.1569	L	0.56769	1.78	0.36495	D	0.868676	D	0.69078	0.997	P	0.58577	0.841	T	0.60296	-0.7291	10	0.42905	T	0.14	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	129	Q9BXA5	SUCR1_HUMAN	Q	129	ENSP00000355156:R129Q	ENSP00000355156:R129Q	R	+	2	0	SUCNR1	153081407	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.085000	0.57657	2.586000	0.87340	0.655000	0.94253	CGA		0.368	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		111	411	0	0	0	1	0	111	411					A	151598717	G	A	151598717	3	1	79	1	0	0	0	0	1	0	0	0	15418	1058	37	1	392	1	SUCNR1	3	151598717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123442	151598717	46423713	4758	15075											
MBNL1	4154	broad.mit.edu	37	chr3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgcatcagcagccGcctttaatccctatctggga	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000463374.1	+	3	905	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473																																						ENST00000282486.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(394-396)Gcc>Acc		muscleblind-like splicing regulator 1							142	156	152					3																	152150554		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152150554G>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.394G>A	3.37:g.152150554G>A	ENSP00000418108:p.Ala132Thr					MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000463374.1_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T	p.A132T			Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	2236	+			132					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.394G>A	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963689	0.92791	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.46774	D	0.999191	D;P;P;D;B;D;D	0.76494	0.999;0.472;0.556;0.995;0.41;0.994;0.99	P;B;B;P;B;P;P	0.62740	0.906;0.072;0.203;0.838;0.217;0.701;0.819	T	0.63060	-0.6721	10	0.38643	T	0.18	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	T	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132T;ENSP00000347637:A132T;ENSP00000417741:A40T;ENSP00000419347:A75T;ENSP00000319429:A132T;ENSP00000420680:A40T;ENSP00000420327:A132T;ENSP00000319374:A132T;ENSP00000350064:A132T;ENSP00000418108:A132T;ENSP00000420103:A132T;ENSP00000418876:A132T;ENSP00000418508:A35T	ENSP00000282486:A132T	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC		0.473	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		258	869	0	0	0	1	0	258	869					A	152150554	G	A	152150554	3	1	79	1	0	0	0	0	1	0	0	0	9394	1087	38	1	404	1	MBNL1	3	152150554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551837	152150554	45871876	4759	15076											
P2RY1	5028	broad.mit.edu	37	chr3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacctggtaatcattgtaCtgactgtttttgctgtgtct	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AATCATTGTACTGACTGTTTT	0.423																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(796-798)Ctg>Atg		purinergic receptor P2Y, G-protein coupled, 1							114	112	112					3																	152554367		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554367C>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.796C>A	3.37:g.152554367C>A	ENSP00000304767:p.Leu266Met						p.L266M	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1632	+			266						Missense_Mutation	SNP	ENST00000305097.3	37	c.796C>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967582	0.34754	.	.	ENSG00000169860	ENST00000305097	T	0.37915	1.17	5.58	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.48295	0.1492	L	0.49778	1.585	0.50039	D	0.999849	D	0.76494	0.999	D	0.91635	0.999	T	0.35525	-0.9785	10	0.37606	T	0.19	.	7.3074	0.26455	0.0:0.6641:0.0:0.3359	.	266	P47900	P2RY1_HUMAN	M	266	ENSP00000304767:L266M	ENSP00000304767:L266M	L	+	1	2	P2RY1	154037057	1.000000	0.71417	0.378000	0.26068	0.476000	0.33039	3.828000	0.55753	0.725000	0.32318	-0.253000	0.11424	CTG		0.423	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		77	342	1	0	3.00167e-28	1	3.48911e-28	77	342					A	152554367	C	A	152554367	3	1	79	1	0	0	0	0	1	0	0	0	11388	564	20	3	798	3	P2RY1	3	152554367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403813	152554367	45468063	4760	15077											
P2RY1	5028	broad.mit.edu	37	chr3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgattttcagaccccaGcaatgtgtgctttcaatgac	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	294					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCAGACCCCAGCAATGTGTGC	0.458																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(880-882)Gca>Tca		purinergic receptor P2Y, G-protein coupled, 1							110	111	111					3																	152554451		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554451G>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.880G>T	3.37:g.152554451G>T	ENSP00000304767:p.Ala294Ser						p.A294S	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1716	+			294						Missense_Mutation	SNP	ENST00000305097.3	37	c.880G>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000169860	ENST00000305097	T	0.66995	-0.24	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.318404	0.32204	N	0.006426	T	0.40094	0.1103	N	0.04043	-0.29	0.22142	N	0.999337	B	0.12013	0.005	B	0.19391	0.025	T	0.19679	-1.0298	10	0.08381	T	0.77	.	10.687	0.45850	0.0729:0.1321:0.795:0.0	.	294	P47900	P2RY1_HUMAN	S	294	ENSP00000304767:A294S	ENSP00000304767:A294S	A	+	1	0	P2RY1	154037141	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.233000	0.65337	1.360000	0.45960	-0.251000	0.11542	GCA		0.458	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		81	390	1	0	1.91123e-38	1	2.30379e-38	81	390					T	152554451	G	T	152554451	3	4	79	1	0	0	0	0	1	0	0	0	11388	971	34	3	882	3	P2RY1	3	152554451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	152554451	45467979	4761	15078											
RAP2B	5912	broad.mit.edu	37	chr3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggccctggctgaggagtGgagctgccccttcatggaga	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	138					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(412-414)tGg>tTg		RAP2B, member of RAS oncogene family							55	43	47					3																	152880895		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880895G>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.413G>T	3.37:g.152880895G>T	ENSP00000319096:p.Trp138Leu						p.W138L	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	867	+			138					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.413G>T	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359132	0.82353	.	.	ENSG00000181467	ENST00000323534	T	0.76839	-1.05	4.43	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.80215	0.4582	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77338	-0.2625	10	0.24483	T	0.36	.	15.7938	0.78394	0.0:0.0:1.0:0.0	.	138	P61225	RAP2B_HUMAN	L	138	ENSP00000319096:W138L	ENSP00000319096:W138L	W	+	2	0	RAP2B	154363585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.294000	0.77228	0.563000	0.77884	TGG		0.632	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		34	157	1	0	8.4185e-14	1	9.11178e-14	34	157					T	152880895	G	T	152880895	3	4	79	1	0	0	0	0	1	0	0	0	13091	1357	47	3	415	3	RAP2B	3	152880895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326444	152880895	45141535	4762	15079											
C3orf79	152118	broad.mit.edu	37	chr3	153220229	153220229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgaaatacagagaggCtcctttgcaaaccagtatca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428																																						ENST00000446603.2																			0				endometrium(1)|large_intestine(3)	4						c.(259-261)ggC>ggA		chromosome 3 open reading frame 79							108	105	106					3																	153220229		1857	4100	5957	SO:0001819	synonymous_variant	152118							g.chr3:153220229C>A	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.261C>A	3.37:g.153220229C>A						RP11-23D24.2_ENST00000493214.2_RNA	p.G87G	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN			3	323	+			87						Silent	SNP	ENST00000446603.2	37	c.261C>A	CCDS46937.1																																																																																				0.428	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		63	316	1	0	4.29146e-36	1	5.13238e-36	63	316					A	153220229	C	A	153220229	2	1	79	1	0	0	0	0	0	0	0	1	2253	784	28	3		3	C3orf79	3	153220229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339334	153220229	44802201	4763	15080											
SGEF	26084	broad.mit.edu	37	chr3	153973185	153973185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctatggaatgtgccaagGagataacatgtcaagctaca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153973185G>A	ENST00000356448.4	+	15	2823	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E847K|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	847	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATGTGCCAAGGAGATAACATG	0.458																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(2539-2541)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 26							154	150	152					3																	153973185		1967	4149	6116	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153973185G>A	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.2539G>A	3.37:g.153973185G>A	ENSP00000348828:p.Glu847Lys					ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E847K|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	p.E847K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			15	2823	+			847			SH3.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.2539G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776685	0.90195	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.31247	1.5;1.5	5.91	5.91	0.95273	Src homology-3 domain (3);	0.169745	0.52532	D	0.000066	T	0.37265	0.0997	L	0.49126	1.545	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.02411	-1.1163	10	0.21014	T	0.42	-38.2716	19.8936	0.96942	0.0:0.0:1.0:0.0	.	847	Q96DR7	ARHGQ_HUMAN	K	847	ENSP00000348828:E847K;ENSP00000423418:E847K	ENSP00000348828:E847K	E	+	1	0	ARHGEF26	155455879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.462000	0.66707	2.793000	0.96121	0.655000	0.94253	GAG		0.458	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		39	312	0	0	0	1	0	39	312					A	153973185	G	A	153973185	3	1	79	1	0	0	0	0	1	0	0	0	14255	1175	41	2	2379	2	SGEF	3	153973185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752956	153973185	44049245	4764	15081											
DHX36	170506	broad.mit.edu	37	chr3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttaggtgatagataaGccagttgtagtgaaagtctg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	886					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATAGATAAGCCAGTTGTAG	0.333																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2656-2658)Ctt>Ttt		DEAH (Asp-Glu-Ala-His) box polypeptide 36							90	89	89					3																	153995419		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:153995419G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2656C>T	3.37:g.153995419G>A	ENSP00000417078:p.Leu886Phe					DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F	p.L886F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		23	2736	-			886					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2656C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830917	0.91036	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.05199	3.67;3.6;3.49;3.48	5.91	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.72624	2.21	0.58432	D	0.999997	D;D;D	0.56746	0.972;0.972;0.977	P;P;P	0.61722	0.785;0.828;0.893	T	0.00036	-1.2257	10	0.48119	T	0.1	.	15.4806	0.75524	0.0674:0.0:0.9326:0.0	.	872;857;886	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	886;857;872;872	ENSP00000417078:L886F;ENSP00000309296:L857F;ENSP00000444247:L872F;ENSP00000330113:L872F	ENSP00000309296:L857F	L	-	1	0	DHX36	155478113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.794000	0.96219	0.655000	0.94253	CTT		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		24	130	0	0	0	1	0	24	130					A	153995419	G	A	153995419	3	1	79	1	0	0	0	0	1	0	0	0	4525	971	34	2	382	2	DHX36	3	153995419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22234	153995419	44027011	4765	15082											
DHX36	170506	broad.mit.edu	37	chr3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtggctcaacgggtaatCgtgccaagtggactccaaga	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	695					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACGGGTAATCGTGCCAAGTG	0.403																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2083-2085)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							126	121	122					3																	154002724		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002724C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2084G>A	3.37:g.154002724C>T	ENSP00000417078:p.Arg695Gln					DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q	p.R695Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		18	2164	-			695					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2084G>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715414|4.715414	0.89112|0.89112	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43662	.|0.608;0.608;0.814	.|B;B;B	.|0.41691	.|0.249;0.358;0.364	T|T	0.01648|0.01648	-1.1304|-1.1304	5|10	.|0.33141	.|T	.|0.24	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681;695;695	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	N|Q	142|695;695;681;681;609	.|ENSP00000417078:R695Q;ENSP00000309296:R695Q;ENSP00000444247:R681Q;ENSP00000330113:R681Q;ENSP00000419862:R609Q	.|ENSP00000309296:R695Q	D|R	-|-	1|2	0|0	DHX36|DHX36	155485418|155485418	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.403	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		78	367	0	0	0	1	0	78	367					T	154002724	C	T	154002724	3	4	79	1	0	0	0	0	1	0	0	0	4525	884	31	1	974	1	DHX36	3	154002724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7305	154002724	44019706	4766	15083											
GPR149	344758	broad.mit.edu	37	chr3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttactgttctgcctgtgtGcttctactgtgtctggaatg	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	695					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGCCTGTGTGCTTCTACTGT	0.438																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(2083-2085)gCa>gTa		G protein-coupled receptor 149							309	282	290					3																	154055600		1939	4150	6089	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055600G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2084C>T	3.37:g.154055600G>A	ENSP00000374390:p.Ala695Val						p.A695V	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2183	-			695						Missense_Mutation	SNP	ENST00000389740.2	37	c.2084C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387473	0.82902	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	9	0.87932	D	0	-17.2027	20.063	0.97692	0.0:0.0:1.0:0.0	.	695	Q86SP6	GP149_HUMAN	V	695	.	ENSP00000374390:A695V	A	-	2	0	GPR149	155538294	1.000000	0.71417	0.952000	0.39060	0.444000	0.32077	9.455000	0.97625	2.741000	0.93983	0.650000	0.86243	GCA		0.438	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		207	978	0	0	0	1	0	207	978					A	154055600	G	A	154055600	3	1	79	1	0	0	0	0	1	0	0	0	6683	1319	46	2	115	2	GPR149	3	154055600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52876	154055600	43966830	4767	15084											
GPR149	344758	broad.mit.edu	37	chr3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagcatcctctggggAcagggaaaccactctccccg	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	252					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCTGGGGACAGGGAAACC	0.662																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(754-756)Tcc>Ccc		G protein-coupled receptor 149							33	37	36					3																	154146651		1873	4110	5983	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146651A>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.754T>C	3.37:g.154146651A>G	ENSP00000374390:p.Ser252Pro						p.S252P	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	853	-			252						Missense_Mutation	SNP	ENST00000389740.2	37	c.754T>C	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543435	0.27563	.	.	ENSG00000174948	ENST00000389740	T	0.38560	1.13	4.57	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.423870	0.28442	N	0.015327	T	0.25827	0.0629	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.0054	7.4261	0.27100	0.782:0.0:0.0811:0.1369	.	252	Q86SP6	GP149_HUMAN	P	252	ENSP00000374390:S252P	ENSP00000374390:S252P	S	-	1	0	GPR149	155629345	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	0.099000	0.15210	0.736000	0.32559	0.533000	0.62120	TCC		0.662	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		69	304	0	0	0	1	0	69	304					G	154146651	A	G	154146651	3	3	79	1	0	0	0	0	1	0	0	0	6683	275	10	4	1457	4	GPR149	3	154146651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91051	154146651	43875779	4768	15085											
MME	4311	broad.mit.edu	37	chr3	154832830	154832830	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaccactgagccttgtacaGactttttcaaatatgcttgc	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	ENST00000460393.1	+	4	364	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	82					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCCTTGTACAGACTTTTTCAA	0.433																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(244-246)Gac>Tac		membrane metallo-endopeptidase	Candoxatril(DB00616)						125	119	121					3																	154832830		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832830G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.244G>T	3.37:g.154832830G>T	ENSP00000418525:p.Asp82Tyr					MME_ENST00000493237.1_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y	p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	364	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	82					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.244G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735744	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.90676	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.71;-2.11	5.46	4.59	0.56863	Peptidase M13 (1);	0.096412	0.64402	D	0.000001	D	0.95072	0.8404	M	0.86178	2.8	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.95214	0.8328	10	0.87932	D	0	-26.8909	11.3533	0.49600	0.1454:0.0:0.8546:0.0	.	82	P08473	NEP_HUMAN	Y	82	ENSP00000420389:D82Y;ENSP00000418525:D82Y;ENSP00000420101:D82Y;ENSP00000419653:D82Y;ENSP00000417079:D82Y;ENSP00000353679:D82Y;ENSP00000418791:D82Y;ENSP00000420542:D82Y;ENSP00000417595:D82Y	ENSP00000353679:D82Y	D	+	1	0	MME	156315524	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	4.263000	0.58853	1.328000	0.45358	0.561000	0.74099	GAC		0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		42	558	1	0	6.5261e-18	1	7.22248e-18	42	558					T	154832830	G	T	154832830	3	4	79	1	0	0	0	0	1	0	0	0	9686	942	33	3	254	3	MME	3	154832830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	686179	154832830	43189600	4769	15086											
MME	4311	broad.mit.edu	37	chr3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaactgaattctaaatAtgggaaaaaagtccttatta	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	195					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AATTCTAAATATGGGAAAAAA	0.294																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(583-585)tAt>tGt		membrane metallo-endopeptidase	Candoxatril(DB00616)						59	63	61					3																	154834705		2203	4296	6499	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834705A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.584A>G	3.37:g.154834705A>G	ENSP00000418525:p.Tyr195Cys					MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C	p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	704	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	195					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.584A>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734859	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.52	0.40303	Peptidase M13 (1);	0.115285	0.64402	D	0.000010	D	0.86142	0.5862	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88017	0.2766	10	0.87932	D	0	-15.7668	12.7345	0.57216	0.7695:0.0:0.0:0.2305	.	195	P08473	NEP_HUMAN	C	195	ENSP00000420389:Y195C;ENSP00000418525:Y195C;ENSP00000420101:Y195C;ENSP00000419653:Y195C;ENSP00000417079:Y195C;ENSP00000353679:Y195C	ENSP00000353679:Y195C	Y	+	2	0	MME	156317399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.130000	0.42092	0.533000	0.62120	TAT		0.294	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		41	225	0	0	0	1	0	41	225					G	154834705	A	G	154834705	3	3	79	1	0	0	0	0	1	0	0	0	9686	449	16	4	606	4	MME	3	154834705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1875	154834705	43187725	4770	15087											
PLCH1	23007	broad.mit.edu	37	chr3	155198762	155198762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttttaaataattcacaGtctcaaaagaaaataaattt	4	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000340059.7	-	23	5076	c.5077C>T	c.(5077-5079)Ctg>Ttg	p.L1693L	PLCH1_ENST00000460012.1_Silent_p.L1655L|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1693					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAATTCACAGTCTCAAAAGA	0.338																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4963-4965)Ctg>Ttg		phospholipase C, eta 1							39	47	44					3																	155198762		2202	4299	6501	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198762G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5077C>T	3.37:g.155198762G>A						PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000340059.7_Silent_p.L1693L|PLCH1_ENST00000414191.1_Silent_p.L1655L	p.L1655L			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5320	-			1693					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4963C>T	CCDS46939.1																																																																																				0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		38	236	0	0	0	1	0	38	236					A	155198762	G	A	155198762	2	1	79	1	0	0	0	0	0	0	0	1	12079	1020	36	2		2	PLCH1	3	155198762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364057	155198762	42823668	4771	15088											
PLCH1	23007	broad.mit.edu	37	chr3	155199440	155199440	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtacagggacatgcatatCttgagcactagattgctggg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155199440C>A	ENST00000340059.7	-	23	4398	c.4399G>T	c.(4399-4401)Gat>Tat	p.D1467Y	PLCH1_ENST00000460012.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1467					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACATGCATATCTTGAGCACTA	0.463																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4285-4287)Gat>Tat		phospholipase C, eta 1							116	110	112					3																	155199440		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199440C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4399G>T	3.37:g.155199440C>A	ENSP00000345988:p.Asp1467Tyr					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1467Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y	p.D1429Y			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4642	-			1467					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4285G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443117	0.12164	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.93	4.05	0.47172	.	1.702460	0.02980	N	0.145486	T	0.35451	0.0932	L	0.47716	1.5	0.09310	N	1	P;P	0.52692	0.955;0.845	P;B	0.47251	0.542;0.254	T	0.32348	-0.9910	10	0.62326	D	0.03	.	11.2881	0.49234	0.3315:0.6685:0.0:0.0	.	1429;1467	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1429;1467;1429;1429	ENSP00000417502:D1429Y;ENSP00000345988:D1467Y;ENSP00000335469:D1429Y;ENSP00000412977:D1429Y	ENSP00000335469:D1429Y	D	-	1	0	PLCH1	156682134	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.315000	0.33608	1.038000	0.40049	-0.302000	0.09304	GAT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	412	1	0	0.000673444	1	0.000681208	10	412					A	155199440	C	A	155199440	3	1	79	1	0	0	0	0	1	0	0	0	12079	913	32	3	686	3	PLCH1	3	155199440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678	155199440	42822990	4772	15089											
PLCH1	23007	broad.mit.edu	37	chr3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttggtcatgagggatcGtccatgtgatttctttccac	10	8	2	2	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000340059.7	-	12	1635	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	546					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGAGGGATCGTCCATGTGAT	0.313																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1582-1584)Cga>Tga		phospholipase C, eta 1		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	145	133	137		1636,1636,1582	5.2	1	3	dbSNP_134	137	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	546/1694,546/1003,528/1656	155222376	1,13005	2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155222376G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1636C>T	3.37:g.155222376G>A	ENSP00000345988:p.Arg546*					PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R546*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*	p.R528*			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		13	1939	-			546					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.1582C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	40	8.501984	0.98838	2.27E-4	0.0	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.19	5.19	0.71726	.	1.248860	0.05659	N	0.586524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8058	0.57612	0.0:0.0:0.8367:0.1633	.	.	.	.	X	546;528;546;546;528;528	.	ENSP00000335469:R528X	R	-	1	2	PLCH1	156705070	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.425000	0.52771	2.571000	0.86741	0.655000	0.94253	CGA		0.313	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		27	144	0	0	0	1	0	27	144					A	155222376	G	A	155222376	4	1	79	1	0	0	0	0	0	1	0	0	12079	1153	40	1	3508	1	PLCH1	3	155222376	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22936	155222376	42800054	4773	15090											
PLCH1	23007	broad.mit.edu	37	chr3	155286106	155286106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatagtccgttgtcacaTtattcatctaagaaaaacag	6	8	3	1	rs200527299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155286106T>C	ENST00000340059.7	-	6	742	c.743A>G	c.(742-744)aAt>aGt	p.N248S	PLCH1_ENST00000460012.1_Missense_Mutation_p.N230S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	248					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTTGTCACATTATTCATCTA	0.318													T|||	1	0.000199681	0.0	0.0	5008	,	,		18785	0.0		0.001	False		,,,				2504	0.0					ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(688-690)aAt>aGt		phospholipase C, eta 1							65	64	65					3																	155286106		2201	4294	6495	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155286106T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.743A>G	3.37:g.155286106T>C	ENSP00000345988:p.Asn248Ser					PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N248S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S	p.N230S			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		7	1046	-			248					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.689A>G	CCDS46939.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.91	2.676056	0.47886	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.54	5.54	0.83059	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.207947	0.47455	D	0.000227	T	0.21841	0.0526	L	0.50919	1.6	0.47276	D	0.999376	P;P;B	0.37370	0.537;0.592;0.013	B;B;B	0.41135	0.236;0.348;0.02	T	0.01684	-1.1296	10	0.30854	T	0.27	.	15.6779	0.77341	0.0:0.0:0.0:1.0	.	230;248;248	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	248;230;248;248;230;230	ENSP00000419100:N248S;ENSP00000417502:N230S;ENSP00000402759:N248S;ENSP00000345988:N248S;ENSP00000335469:N230S;ENSP00000412977:N230S	ENSP00000335469:N230S	N	-	2	0	PLCH1	156768800	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.489000	0.60309	2.099000	0.63709	0.533000	0.62120	AAT		0.318	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		5	89	0	0	0	1	0	5	89					C	155286106	T	C	155286106	3	2	79	1	0	0	0	0	1	0	0	0	12079	1493	52	4	4425	4	PLCH1	3	155286106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63730	155286106	42736324	4774	15091											
C3orf33	285315	broad.mit.edu	37	chr3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgttgtttttaaaaaaCtgtcctttttccatatttct	3	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000340171.2	-	5	820	c.722G>T	c.(721-723)aGt>aTt	p.S241I	C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	241					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAAAAAACTGTCCTTTTT	0.299																																						ENST00000534941.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(592-594)aGt>aTt		chromosome 3 open reading frame 33							70	63	65					3																	155481469		1780	4057	5837	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155481469C>A	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.722G>T	3.37:g.155481469C>A	ENSP00000342512:p.Ser241Ile					C3orf33_ENST00000340171.2_Missense_Mutation_p.S241I	p.S198I	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	862	-			198					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.593G>T		.	.	.	.	.	.	.	.	.	.	C	11.96	1.795647	0.31777	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46063	0.88;0.88	5.13	0.327	0.15913	.	0.942736	0.08977	N	0.866334	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.43861	-0.9365	10	0.72032	D	0.01	-5.5109	8.8689	0.35303	0.0:0.5147:0.0:0.4853	.	241	Q6P1S2	CC033_HUMAN	I	198;241;241	ENSP00000445446:S198I;ENSP00000342512:S241I	ENSP00000342512:S241I	S	-	2	0	C3orf33	156964163	0.000000	0.05858	0.308000	0.25141	0.521000	0.34408	-1.494000	0.02296	-0.005000	0.14395	0.650000	0.86243	AGT		0.299	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		22	152	1	0	3.5997e-14	1	3.90403e-14	22	152					A	155481469	C	A	155481469	3	1	79	1	0	0	0	0	1	0	0	0	2230	565	20	3	166	3	C3orf33	3	155481469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195363	155481469	42540961	4775	15092											
TIPARP	25976	broad.mit.edu	37	chr3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggttcgatttatgatGtggaataaccactacatcct	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	383	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATTTATGATGTGGAATAACC	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1147-1149)atG>atA		TCDD-inducible poly(ADP-ribose) polymerase							105	111	109					3																	156413716		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156413716G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1149G>A	3.37:g.156413716G>A	ENSP00000420612:p.Met383Ile					TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I	p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1737	+			383			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1149G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.581|9.581	1.123516|1.123516	0.20959|0.20959	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (1);|.	0.043555|.	0.85682|.	D|.	0.000000|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.22421|0.22421	0.69|0.69	0.31574|0.31574	N|N	0.655986|0.655986	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.49607|.	T|.	0.09|.	.|.	6.1501|6.1501	0.20306|0.20306	0.1552:0.1617:0.6831:0.0|0.1552:0.1617:0.6831:0.0	.|.	383|.	Q7Z3E1|.	PARPT_HUMAN|.	I|M	383|86	ENSP00000418757:M383I;ENSP00000295924:M383I;ENSP00000420612:M383I;ENSP00000419982:M383I;ENSP00000418829:M383I;ENSP00000438345:M383I|.	ENSP00000295924:M383I|.	M|V	+|+	3|1	0|0	TIPARP|TIPARP	157896410|157896410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.996000|0.996000	0.29719|0.29719	2.579000|2.579000	0.87056|0.87056	0.460000|0.460000	0.39030|0.39030	ATG|GTG		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		100	393	0	0	0	1	0	100	393					A	156413716	G	A	156413716	3	1	79	1	0	0	0	0	1	0	0	0	15976	1377	48	2	1159	2	TIPARP	3	156413716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932247	156413716	41608714	4776	15093											
TIPARP	25976	broad.mit.edu	37	chr3	156421357	156421357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaggacttcatccaAgtccctgtttctgcagagga	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000542783.1_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	464	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTCATCCAAGTCCCTGTTT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1390-1392)caA>caG		TCDD-inducible poly(ADP-ribose) polymerase							98	100	99					3																	156421357		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421357A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1392A>G	3.37:g.156421357A>G						TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q	p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1980	+			464			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.1392A>G	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969552	0.18659	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70601	-0.4827	4	.	.	.	.	14.9953	0.71428	1.0:0.0:0.0:0.0	.	.	.	.	G	167	.	.	S	+	1	0	TIPARP	157904051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.018000	0.59344	0.528000	0.53228	AGT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		39	397	0	0	0	1	0	39	397					G	156421357	A	G	156421357	2	3	79	1	0	0	0	0	0	0	0	1	15976	69	3	4		4	TIPARP	3	156421357	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7641	156421357	41601073	4777	15094											
TIPARP	25976	broad.mit.edu	37	chr3	156422599	156422599	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaactttgaccctcgagtCtgtggaaagcatgctacaat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V|TIPARP_ENST00000542783.1_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	551	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCTCGAGTCTGTGGAAAGC	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1651-1653)gtC>gtA		TCDD-inducible poly(ADP-ribose) polymerase							165	166	166					3																	156422599		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422599C>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1653C>A	3.37:g.156422599C>A						TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V	p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	2241	+			551			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.1653C>A	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376662	0.11466	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.77	4.85	0.62838	.	.	.	.	.	T	0.72252	0.3437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	.	16.9661	0.86286	0.0:0.7817:0.2183:0.0	.	.	.	.	M	254	.	.	L	+	1	2	TIPARP	157905293	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	2.726000	0.93360	0.650000	0.86243	CTG		0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		167	870	1	0	1.42649e-92	1	1.83228e-92	167	870					A	156422599	C	A	156422599	2	1	79	1	0	0	0	0	0	0	0	1	15976	900	32	3		3	TIPARP	3	156422599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1242	156422599	41599831	4778	15095											
CCNL1	57018	broad.mit.edu	37	chr3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcccgagacttgctctgaGatcgagaacgagattttttc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	474					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1420-1422)tCt>tTt		cyclin L1							272	250	258					3																	156866190		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866190G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1421C>T	3.37:g.156866190G>A	ENSP00000295926:p.Ser474Phe					CCNL1_ENST00000461804.1_Intron	p.S474F	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1539	-			474					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1421C>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272501	0.59649	.	.	ENSG00000163660	ENST00000295926	T	0.24350	1.86	4.99	4.99	0.66335	.	0.226724	0.46442	D	0.000294	T	0.34164	0.0888	L	0.55213	1.73	0.80722	D	1	P	0.48911	0.917	P	0.46049	0.502	T	0.15665	-1.0429	10	0.59425	D	0.04	-9.688	18.6886	0.91574	0.0:0.0:1.0:0.0	.	474	Q9UK58	CCNL1_HUMAN	F	474	ENSP00000295926:S474F	ENSP00000295926:S474F	S	-	2	0	CCNL1	158348884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.015000	0.88690	2.458000	0.83093	0.551000	0.68910	TCT		0.453	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		155	775	0	0	0	1	0	155	775					A	156866190	G	A	156866190	3	1	79	1	0	0	0	0	1	0	0	0	2940	942	33	2	163	2	CCNL1	3	156866190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443591	156866190	41156240	4779	15096											
VEPH1	79674	broad.mit.edu	37	chr3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactttgctacacaacttcTcacagtgtctagaaacaaat	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	582						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1744-1746)Aga>Gga		ventricular zone expressed PH domain-containing 1							127	118	121					3																	157034982		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157034982T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1744A>G	3.37:g.157034982T>C	ENSP00000354919:p.Arg582Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000487238.1_RNA	p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		10	2051	-			582					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1744A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	7.140	0.581722	0.13749	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08282	3.11;3.13;3.11;3.13	5.46	3.06	0.35304	.	0.222976	0.46758	D	0.000273	T	0.07908	0.0198	L	0.44542	1.39	0.36912	D	0.890968	B;B	0.16396	0.002;0.017	B;B	0.15870	0.004;0.014	T	0.14035	-1.0487	10	0.42905	T	0.14	-7.5471	9.0914	0.36612	0.0:0.1564:0.0:0.8436	.	582;582	Q14D04-2;Q14D04	.;MELT_HUMAN	G	582	ENSP00000376578:R582G;ENSP00000354919:R582G;ENSP00000446258:R582G;ENSP00000376577:R582G	ENSP00000354919:R582G	R	-	1	2	VEPH1	158517676	0.325000	0.24660	0.534000	0.28014	0.603000	0.37013	1.031000	0.30165	0.929000	0.37192	0.533000	0.62120	AGA		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		22	364	0	0	0	1	0	22	364					C	157034982	T	C	157034982	3	2	79	1	0	0	0	0	1	0	0	0	17208	1559	54	4	777	4	VEPH1	3	157034982	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168792	157034982	40987448	4780	15097											
VEPH1	79674	broad.mit.edu	37	chr3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttcaatggtacactgaTcagggactggaatcttcttt	8	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	573						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1717-1719)gAt>gGt		ventricular zone expressed PH domain-containing 1							163	159	160					3																	157081170		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081170T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1718A>G	3.37:g.157081170T>C	ENSP00000354919:p.Asp573Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|RP11-550I24.2_ENST00000487238.1_RNA	p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	2025	-			573					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1718A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631716	0.46944	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09163	3.01;3.04;3.01;3.04	5.5	5.5	0.81552	.	0.098590	0.64402	D	0.000002	T	0.14098	0.0341	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.521	P;B	0.47645	0.553;0.142	T	0.01027	-1.1476	10	0.59425	D	0.04	-14.4798	15.6131	0.76744	0.0:0.0:0.0:1.0	.	573;573	Q14D04-2;Q14D04	.;MELT_HUMAN	G	573	ENSP00000376578:D573G;ENSP00000354919:D573G;ENSP00000446258:D573G;ENSP00000376577:D573G	ENSP00000354919:D573G	D	-	2	0	VEPH1	158563864	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	5.721000	0.68477	2.084000	0.62774	0.533000	0.62120	GAT		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		175	703	0	0	0	1	0	175	703					C	157081170	T	C	157081170	3	2	79	1	0	0	0	0	1	0	0	0	17208	1435	50	4	807	4	VEPH1	3	157081170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46188	157081170	40941260	4781	15098											
VEPH1	79674	broad.mit.edu	37	chr3	157099043	157099043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtctctgctctgaggGcccaagattgaggagaaggt	14	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000543418.1_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	343						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1027-1029)ggC>ggT		ventricular zone expressed PH domain-containing 1							185	177	179					3																	157099043		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157099043G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1029C>T	3.37:g.157099043G>A						VEPH1_ENST00000543418.1_Silent_p.G343G|VEPH1_ENST00000392832.2_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|RP11-550I24.2_ENST00000487238.1_RNA	p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1336	-			343					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.1029C>T	CCDS3179.1																																																																																				0.507	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		121	501	0	0	0	1	0	121	501					A	157099043	G	A	157099043	2	1	79	1	0	0	0	0	0	0	0	1	17208	1190	42	2		2	VEPH1	3	157099043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17873	157099043	40923387	4782	15099											
VEPH1	79674	broad.mit.edu	37	chr3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgtttaggatgatgTcattatgggttgaatccttc	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	252						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(754-756)gAc>gGc		ventricular zone expressed PH domain-containing 1							110	105	106					3																	157131821		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157131821T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.755A>G	3.37:g.157131821T>C	ENSP00000354919:p.Asp252Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000469007.1_5'UTR	p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		6	1062	-			252					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.755A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421162	0.42918	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.9	5.9	0.94986	.	0.045054	0.85682	D	0.000000	T	0.47284	0.1437	L	0.41236	1.265	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.26395	-1.0104	10	0.25751	T	0.34	-2.4488	14.9032	0.70696	0.0:0.0:0.0:1.0	.	252;252	Q14D04-2;Q14D04	.;MELT_HUMAN	G	252	ENSP00000376578:D252G;ENSP00000354919:D252G;ENSP00000446258:D252G;ENSP00000376577:D252G	ENSP00000354919:D252G	D	-	2	0	VEPH1	158614515	0.994000	0.37717	0.115000	0.21578	0.967000	0.64934	3.823000	0.55715	2.251000	0.74343	0.528000	0.53228	GAC		0.418	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		47	207	0	0	0	1	0	47	207					C	157131821	T	C	157131821	3	2	79	1	0	0	0	0	1	0	0	0	17208	1667	58	4	1782	4	VEPH1	3	157131821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32778	157131821	40890609	4783	15100											
VEPH1	79674	broad.mit.edu	37	chr3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaacactgacatacctGtaaaatgcaactcatgatat	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	118						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(352-354)Cag>Tag		ventricular zone expressed PH domain-containing 1							74	70	71					3																	157188105		2203	4300	6503	SO:0001587	stop_gained	79674					plasma membrane		g.chr3:157188105G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.352C>T	3.37:g.157188105G>A	ENSP00000354919:p.Gln118*					VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*	p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	659	-			118					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Nonsense_Mutation	SNP	ENST00000362010.2	37	c.352C>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267774	0.97426	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1046	19.1841	0.93635	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;6;118;118;118;118	.	ENSP00000354919:Q118X	Q	-	1	0	VEPH1	158670799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.537000	0.85549	0.655000	0.94253	CAG		0.458	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		29	187	0	0	0	1	0	29	187					A	157188105	G	A	157188105	4	1	79	1	0	0	0	0	0	1	0	0	17208	1386	48	2	2319	2	VEPH1	3	157188105	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56284	157188105	40834325	4784	15101											
SHOX2	6474	broad.mit.edu	37	chr3	157816011	157816011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggcgcgtgcgcggccagGtgcggatgcaggtggtggtg	22	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000425436.3	-	5	826	c.801C>T	c.(799-801)caC>caT	p.H267H	SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000490689.2_Silent_p.H126H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	267					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(376-378)caC>caT		short stature homeobox 2							60	64	63					3																	157816011		2203	4298	6501	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157816011G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.801C>T	3.37:g.157816011G>A						SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000425436.3_Silent_p.H267H	p.H126H			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1911	-			267					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.378C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459875	0.63401	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.73705	0.3621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72693	-0.4216	4	.	.	.	.	17.6754	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	I	158	.	.	T	-	2	0	SHOX2	159298705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.527000	0.85204	0.655000	0.94253	ACC		0.672	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			128	608	0	0	0	1	0	128	608					A	157816011	G	A	157816011	2	1	79	1	0	0	0	0	0	0	0	1	14339	1252	44	2		2	SHOX2	3	157816011	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627906	157816011	40206419	4785	15102											
SHOX2	51319	broad.mit.edu	37	chr3	157823784	157823784	+	De_novo_Start_OutOfFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcactttctggtcaaaagaCttggagacgaacgccgtaag	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000490689.2_5'Flank			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGTCAAAAGACTTGGAGACGA	0.607																																						ENST00000480820.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18								arginine/serine-rich coiled-coil 1							36	38	38					3																	157823784		1930	4123	6053			51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157823784C>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000480820.1:c.-18C>A	3.37:g.157823784C>A						SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR				Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		0	141	+								A8K2R9|Q96QK2|Q9NZE5	Translation_Start_Site	SNP	ENST00000480820.1	37		CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198165	0.79015	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97976	-4.64;-4.64;-4.64	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000004	D	0.97757	0.9264	L	0.39245	1.2	0.80722	D	1	B;D;D	0.89917	0.447;1.0;1.0	B;D;D	0.83275	0.075;0.996;0.987	D	0.98883	1.0770	10	0.66056	D	0.02	.	16.0873	0.81065	0.0:1.0:0.0:0.0	.	10;10;10	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	10	ENSP00000398704:K10N;ENSP00000374240:K10N;ENSP00000419362:K10N	ENSP00000374240:K10N	K	-	3	2	SHOX2;AC112502.1	159306478	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	1.938000	0.56188	0.561000	0.74099	AAG		0.607	RSRC1-007	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352156.1	NM_016625		72	291	1	0	8.92729e-27	1	1.0308e-26	72	291					A	157823784	C	A	157823784	1	1	79	1	0	1	0	0	0	0	0	0	14339	564	20	3		3	SHOX2	3	157823784	De_novo_Start_OutOfFrame	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	157823784	40198646	4786	15103											
MLF1	4291	broad.mit.edu	37	chr3	158315917	158315917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcattttgttcttcctcaGttatgacttattccaaaata	3	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158315917G>T	ENST00000355893.5	+	4	466	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000359117.5_Missense_Mutation_p.V85F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	110	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTCCTCAGTTATGACTTA	0.368			T	NPM1	AML																																	ENST00000359117.5				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0				large_intestine(3)	3						c.(253-255)Gtt>Ttt		myeloid leukemia factor 1							87	90	89					3																	158315917		2203	4300	6503	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158315917G>T	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.328G>T	3.37:g.158315917G>T	ENSP00000348157:p.Val110Phe					MLF1_ENST00000355893.5_Missense_Mutation_p.V110F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F	p.V85F	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		4	489	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	110			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.253G>T	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340854	0.60963	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.58797	0.5;0.37;0.45;0.45;0.44;0.31;0.45;0.31;0.4	5.44	2.28	0.28536	.	0.259886	0.33515	N	0.004840	T	0.65719	0.2718	L	0.50333	1.59	0.26948	N	0.966105	D;D	0.71674	0.998;0.995	D;D	0.71414	0.973;0.959	T	0.57100	-0.7869	10	0.37606	T	0.19	-16.2454	10.8672	0.46862	0.3256:0.0:0.6744:0.0	.	141;110	Q8N8F8;P58340	.;MLF1_HUMAN	F	36;110;85;85;65;100;100;85;100;141;125	ENSP00000420410:V36F;ENSP00000348157:V110F;ENSP00000417835:V85F;ENSP00000352025:V85F;ENSP00000419636:V65F;ENSP00000420134:V100F;ENSP00000417141:V85F;ENSP00000417777:V100F;ENSP00000376568:V141F	ENSP00000348157:V110F	V	+	1	0	MLF1	159798611	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.451000	0.52964	0.683000	0.31428	0.563000	0.77884	GTT		0.368	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		9	370	1	0	0.000442599	1	0.000448314	9	370					T	158315917	G	T	158315917	3	4	79	1	0	0	0	0	1	0	0	0	9655	1029	36	3	342	3	MLF1	3	158315917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492133	158315917	39706513	4787	15104											
GFM1	85476	broad.mit.edu	37	chr3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcgtcagatgaagcgctAcaacgttccgtttctaactt	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATGAAGCGCTACAACGTTCCG	0.493																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(493-495)tAc>tGc		G elongation factor, mitochondrial 1							166	144	151					3																	158364658		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158364658A>G	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.494A>G	3.37:g.158364658A>G	ENSP00000419038:p.Tyr165Cys					GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	p.Y165C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		4	851	+			165						Missense_Mutation	SNP	ENST00000486715.1	37	c.494A>G	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244912	0.79912	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74947	-0.89;-0.89;-0.89	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99890	4.9	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	0.96582	0.9431	10	0.87932	D	0	-16.7381	16.316	0.82928	1.0:0.0:0.0:0.0	.	165;165;165	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	165	ENSP00000419038:Y165C;ENSP00000418755:Y165C;ENSP00000264263:Y165C	ENSP00000264263:Y165C	Y	+	2	0	GFM1	159847352	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.884000	0.92432	2.248000	0.74166	0.524000	0.50904	TAC		0.493	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		7	248	0	0	0	1	0	7	248					G	158364658	A	G	158364658	3	3	79	1	0	0	0	0	1	0	0	0	6370	391	14	4	508	4	GFM1	3	158364658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48741	158364658	39657772	4788	15105											
GFM1	85476	broad.mit.edu	37	chr3	158399842	158399842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagtatggaaaagtaataGgtgtcctggagcctctggac	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158399842G>T	ENST00000486715.1	+	14	2017	c.1660G>T	c.(1660-1662)Ggt>Tgt	p.G554C	GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAAAGTAATAGGTGTCCTGGA	0.383																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1660-1662)Ggt>Tgt		G elongation factor, mitochondrial 1							54	54	54					3																	158399842		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158399842G>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1660G>T	3.37:g.158399842G>T	ENSP00000419038:p.Gly554Cys					GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	p.G554C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		14	2017	+			554						Missense_Mutation	SNP	ENST00000486715.1	37	c.1660G>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437298	0.83885	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.30182	1.54;1.54;1.54	6.03	5.15	0.70609	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69684	-0.5079	10	0.72032	D	0.01	-22.9342	15.4147	0.74956	0.0664:0.0:0.9336:0.0	.	573;554;554	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	554;554;573	ENSP00000419038:G554C;ENSP00000418755:G554C;ENSP00000264263:G573C	ENSP00000264263:G573C	G	+	1	0	GFM1	159882536	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.461000	0.97646	1.561000	0.49584	0.655000	0.94253	GGT		0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		8	200	1	0	7.48243e-07	1	7.73841e-07	8	200					T	158399842	G	T	158399842	3	4	79	1	0	0	0	0	1	0	0	0	6370	1000	35	3	1714	3	GFM1	3	158399842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35184	158399842	39622588	4789	15106											
IQCJ	654502	broad.mit.edu	37	chr3	158970563	158970563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatattgaaaagtatccccTcaatctacagcccttggaat	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158970563T>C	ENST00000451172.1	+	3	227	c.122T>C	c.(121-123)cTc>cCc	p.L41P	IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.L41P|IQCJ_ENST00000481796.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.L41P|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	41										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			AAGTATCCCCTCAATCTACAG	0.338																																						ENST00000485419.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(121-123)cTc>cCc									89	86	87					3																	158970563		1833	4091	5924	SO:0001583	missense	0					cytoplasm	identical protein binding|protein binding	g.chr3:158970563T>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.122T>C	3.37:g.158970563T>C	ENSP00000402153:p.Leu41Pro					IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.L41P|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.L41P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000482126.1_Intron	p.L41P	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN			3	291	+			0			Ser-rich.		B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.122T>C	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565006	0.65651	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216	ENST00000471575;ENST00000485419;ENST00000483486;ENST00000488898;ENST00000397832;ENST00000451172	T	0.37752	1.18	5.66	5.66	0.87406	.	0.139013	0.28376	U	0.015570	T	0.45478	0.1344	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.95;1.0;0.99	P;D;P	0.76575	0.776;0.988;0.839	T	0.46843	-0.9162	10	0.87932	D	0	.	9.406	0.38462	0.0:0.0804:0.0:0.9196	.	41;41;41	Q9P0W5-5;Q1A5X6;Q1A5X6-2	.;IQCJ_HUMAN;.	P	41;41;41;12;41;41	ENSP00000420182:L41P	ENSP00000380932:L41P	L	+	2	0	IQCJ-SCHIP1;IQCJ	160453257	0.348000	0.24861	1.000000	0.80357	0.985000	0.73830	1.824000	0.39072	2.153000	0.67306	0.460000	0.39030	CTC		0.338	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		21	75	0	0	0	1	0	21	75					C	158970563	T	C	158970563	3	2	79	1	0	0	0	0	1	0	0	0	7842	1551	54	4	132	4	IQCJ	3	158970563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	570721	158970563	39051867	4790	15107											
IFT80	57560	broad.mit.edu	37	chr3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagttttatcacacaagCgtaaagtatgaaacgatcca	6	11	1	1	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	253					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCACACAAGCGTAAAGTATG	0.423																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(757-759)cGc>cAc		intraflagellar transport 80 homolog (Chlamydomonas)		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	144	132	136		758,347,347	5.4	1	3	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	IFT80	NM_020800.2,NM_001190242.1,NM_001190241.1	29,29,29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign,benign	253/778,116/641,116/641	160073820	5,13001	2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160073820C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.758G>A	3.37:g.160073820C>T	ENSP00000312778:p.Arg253His					IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H	p.R253H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	1190	-			253					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.758G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650169	0.67472	0.0	5.81E-4	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.210664	0.27384	U	0.019619	T	0.73289	0.3568	M	0.84846	2.72	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.73889	-0.3840	10	0.66056	D	0.02	-15.0695	19.1062	0.93296	0.0:1.0:0.0:0.0	.	253	Q9P2H3	IFT80_HUMAN	H	253;116;116;116	ENSP00000312778:R253H;ENSP00000418196:R116H;ENSP00000420646:R116H;ENSP00000418602:R116H	ENSP00000312778:R253H	R	-	2	0	IFT80	161556514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.520000	0.84964	0.655000	0.94253	CGC		0.423	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		89	445	0	0	0	1	0	89	445					T	160073820	C	T	160073820	3	4	79	1	0	0	0	0	1	0	0	0	7594	768	27	1	1627	1	IFT80	3	160073820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1103257	160073820	37948610	4791	15108											
IFT80	57560	broad.mit.edu	37	chr3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagcaaataattctccatCtggagcccaggcaactgaag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	240					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATTCTCCATCTGGAGCCCAG	0.413																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(718-720)Gat>Aat		intraflagellar transport 80 homolog (Chlamydomonas)							111	102	105					3																	160073860		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160073860C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.718G>A	3.37:g.160073860C>T	ENSP00000312778:p.Asp240Asn					IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N	p.D240N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	1150	-			240					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.718G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517515	0.64634	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.62498	1.3;0.02;0.02;1.37	5.37	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000030	T	0.64907	0.2641	L	0.31476	0.935	0.80722	D	1	D	0.56968	0.978	P	0.60473	0.875	T	0.63301	-0.6668	10	0.34782	T	0.22	-12.0688	13.5991	0.62010	0.0:0.9256:0.0:0.0744	.	240	Q9P2H3	IFT80_HUMAN	N	240;103;103;103	ENSP00000312778:D240N;ENSP00000418196:D103N;ENSP00000420646:D103N;ENSP00000418602:D103N	ENSP00000312778:D240N	D	-	1	0	IFT80	161556554	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.422000	0.80217	1.268000	0.44264	0.655000	0.94253	GAT		0.413	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		22	418	0	0	0	1	0	22	418					T	160073860	C	T	160073860	3	4	79	1	0	0	0	0	1	0	0	0	7594	913	32	2	1667	2	IFT80	3	160073860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	160073860	37948570	4792	15109											
SMC4	10051	broad.mit.edu	37	chr3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctatagaagataatcCtattgaagagatttcggttc	8	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1051					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGATAATCCTATTGAAGAG	0.343																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3151-3153)cCt>cAt		structural maintenance of chromosomes 4							45	51	49					3																	160149468		2202	4300	6502	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149468C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3152C>A	3.37:g.160149468C>A	ENSP00000349961:p.Pro1051His					SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	p.P1051H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3603	+			1051					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3152C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013696	0.54468	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77620	-0.84;-1.11;-0.83;-1.11;-0.84	6.06	5.18	0.71444	RecF/RecN/SMC (1);	0.091308	0.85682	N	0.000000	T	0.74496	0.3724	L	0.58510	1.815	0.53688	D	0.99997	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.18871	0.004;0.012;0.016;0.023	T	0.69316	-0.5177	10	0.28530	T	0.3	-6.5535	15.0777	0.72090	0.2585:0.7415:0.0:0.0	.	993;1026;1026;1051	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1051;993;1026;993;1051;645	ENSP00000349961:P1051H;ENSP00000353225:P993H;ENSP00000417964:P1026H;ENSP00000420734:P993H;ENSP00000341382:P1051H	ENSP00000341382:P1051H	P	+	2	0	SMC4	161632162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	1.554000	0.49487	0.655000	0.94253	CCT		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			43	215	1	0	1.32136e-16	1	1.45297e-16	43	215					A	160149468	C	A	160149468	3	1	79	1	0	0	0	0	1	0	0	0	14835	681	24	3	3230	3	SMC4	3	160149468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75608	160149468	37872962	4793	15110											
TRIM59	286827	broad.mit.edu	37	chr3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatctgtacatgctggCgtacatcatcaactttttca	6	10	5	1	rs142551772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000309784.4	-	3	958	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H|TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	258					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACATGCTGGCGTACATCATC	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		17942	0.0		0.0	False		,,,				2504	0.0031					ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(772-774)cGc>cAc		tripartite motif containing 59		C	HIS/ARG	0,4406		0,0,2203	98	103	101		773	4.9	0.8	3	dbSNP_134	101	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRIM59	NM_173084.2	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	258/404	160156199	3,13001	2203	4299	6502	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156199C>T	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.773G>A	3.37:g.160156199C>T	ENSP00000311219:p.Arg258His					TRIM59_ENST00000309784.4_Missense_Mutation_p.R258H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H	p.R258H			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	987	-			258					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.773G>A	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971880	0.53614	0.0	3.49E-4	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25749	1.99;1.78	5.77	4.89	0.63831	.	0.109676	0.64402	D	0.000014	T	0.18467	0.0443	L	0.33485	1.01	0.33875	D	0.635472	B	0.26041	0.14	B	0.17722	0.019	T	0.14671	-1.0464	9	.	.	.	-13.8692	12.589	0.56434	0.0:0.8694:0.0:0.1306	.	258	Q8IWR1	TRI59_HUMAN	H	258	ENSP00000444313:R258H;ENSP00000311219:R258H	.	R	-	2	0	TRIM59	161638893	0.155000	0.22806	0.804000	0.32291	0.439000	0.31926	1.478000	0.35442	2.724000	0.93272	0.561000	0.74099	CGC		0.378	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		116	524	0	0	0	1	0	116	524					T	160156199	C	T	160156199	3	4	79	1	0	0	0	0	1	0	0	0	16585	768	27	1	442	1	TRIM59	3	160156199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6731	160156199	37866231	4794	15111											
TRIM59	286827	broad.mit.edu	37	chr3	160156854	160156854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatataaaagttaccagatgCctgaagaatgttttccaaac	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156854C>A	ENST00000309784.4	-	3	303	c.118G>T	c.(118-120)Gca>Tca	p.A40S	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S|TRIM59_ENST00000543469.1_Missense_Mutation_p.A40S	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	40					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTACCAGATGCCTGAAGAATG	0.358																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(118-120)Gca>Tca		tripartite motif containing 59							71	73	72					3																	160156854		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156854C>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.118G>T	3.37:g.160156854C>A	ENSP00000311219:p.Ala40Ser					TRIM59_ENST00000309784.4_Missense_Mutation_p.A40S|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S	p.A40S			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	332	-			40					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.118G>T	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857260	0.71834	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	T;T;D;D;D;D;D;D	0.92752	1.11;1.11;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.258560	0.39615	N	0.001303	D	0.83667	0.5304	N	0.10618	0.0049999999999999	0.27882	N	0.939651	B	0.32128	0.357	B	0.38225	0.268	T	0.74562	-0.3624	9	.	.	.	8.2121	10.7133	0.45997	0.1289:0.6954:0.1758:0.0	.	40	Q8IWR1	TRI59_HUMAN	S	40;40;40;40;68;40;40;47	ENSP00000444313:A40S;ENSP00000311219:A40S;ENSP00000417081:A40S;ENSP00000420520:A40S;ENSP00000418856:A68S;ENSP00000418699:A40S;ENSP00000417605:A40S;ENSP00000420451:A47S	.	A	-	1	0	TRIM59	161639548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	2.941000	0.99782	0.655000	0.94253	GCA		0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		15	415	1	0	3.45872e-05	1	3.53336e-05	15	415					A	160156854	C	A	160156854	3	1	79	1	0	0	0	0	1	0	0	0	16585	739	26	3	1097	3	TRIM59	3	160156854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	160156854	37865576	4795	15112											
PPM1L	151742	broad.mit.edu	37	chr3	160474238	160474238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccgacgaggtgaagaccAtcgtgaagtccagccgggac	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160474238A>G	ENST00000498165.1	+	1	243	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	48					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)			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)			GGTGAAGACCATCGTGAAGTC	0.567																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(142-144)Atc>Gtc		protein phosphatase, Mg2+/Mn2+ dependent, 1L							133	119	124					3																	160474238		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.chr3:160474238A>G	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.142A>G	3.37:g.160474238A>G	ENSP00000417659:p.Ile48Val					PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V	p.I48V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	243	+			48					Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.142A>G	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917566	0.52546	.	.	ENSG00000163590	ENST00000497343;ENST00000498165	T	0.22336	1.96	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14559	-1.0468	10	0.14252	T	0.57	.	13.3993	0.60872	1.0:0.0:0.0:0.0	.	48	Q5SGD2	PPM1L_HUMAN	V	48	ENSP00000417659:I48V	ENSP00000420354:I48V	I	+	1	0	PPM1L	161956932	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.668000	0.91158	1.775000	0.52247	0.402000	0.26972	ATC		0.567	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		9	354	0	0	0	1	0	9	354					G	160474238	A	G	160474238	3	3	79	1	0	0	0	0	1	0	0	0	12391	217	8	4	144	4	PPM1L	3	160474238	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	317384	160474238	37548192	4796	15113											
NMD3	51068	broad.mit.edu	37	chr3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaaggatttctggaaggCtgtgattcaagtgaggcaaa	13	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.A155V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	155					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTCTGGAAGGCTGTGATTCAA	0.373																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(463-465)gCt>gTt		NMD3 ribosome export adaptor							188	181	184					3																	160952621		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952621C>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.464C>T	3.37:g.160952621C>T	ENSP00000419004:p.Ala155Val					NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V	p.A155V			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		5	919	+			155					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.464C>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313233	0.95655	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.62941	0.45;0.21;0.05;-0.01;0.21;0.35;0.05	4.83	4.83	0.62350	.	0.103596	0.64402	D	0.000003	D	0.85106	0.5621	H	0.95402	3.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72075	0.976;0.96	D	0.90009	0.4120	10	0.87932	D	0	-23.6263	17.2642	0.87081	0.0:1.0:0.0:0.0	.	155;155	C9JA08;Q96D46	.;NMD3_HUMAN	V	155;155;155;155;155;155;155;35	ENSP00000418980:A155V;ENSP00000419030:A155V;ENSP00000307525:A155V;ENSP00000417559:A155V;ENSP00000418908:A155V;ENSP00000419647:A155V;ENSP00000419004:A155V	ENSP00000307525:A155V	A	+	2	0	NMD3	162435315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.376000	0.81061	0.591000	0.81541	GCT		0.373	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		101	530	0	0	0	1	0	101	530					T	160952621	C	T	160952621	3	4	79	1	0	0	0	0	1	0	0	0	10530	797	28	2	482	2	NMD3	3	160952621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478383	160952621	37069809	4797	15114											
SI	6476	broad.mit.edu	37	chr3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A													ataggggatgttagcagccaCcatagcgtcatataattccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTAGCAGCCACCATAGCGTCA	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3739-3741)Gtg>Ttg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						61	59	60					3																	164735356		2202	4297	6499	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735356C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3739G>T	3.37:g.164735356C>A	ENSP00000264382:p.Val1247Leu	HNSCC(35;0.089)					p.V1247L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3801	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1247			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3739G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126324	0.06795	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.31	1.04	0.20106	Glycoside hydrolase, superfamily (1);	0.966348	0.08594	N	0.922511	D	0.83681	0.5307	L	0.41906	1.305	0.18873	N	0.999984	B	0.12013	0.005	B	0.21546	0.035	T	0.64892	-0.6300	10	0.11182	T	0.66	.	5.9688	0.19340	0.0:0.502:0.1289:0.3691	.	1247	P14410	SUIS_HUMAN	L	1247	ENSP00000264382:V1247L	ENSP00000264382:V1247L	V	-	1	0	SI	166218050	0.096000	0.21769	0.166000	0.22797	0.012000	0.07955	0.350000	0.20079	0.006000	0.14734	0.591000	0.81541	GTG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		34	233	1	0	1.57351e-24	1	1.79979e-24	34	233					A	164735356	C	A	164735356	3	1	79	1	0	0	0	0	1	0	0	0	14347	507	18	3	1816	3	SI	3	164735356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3782735	164735356	33287074	4798	15115	92	2									
SI	6476	broad.mit.edu	37	chr3	164735363	164735363	+	Silent	SNP	G	G	A													atgttagcagccaccatagcGtcatataattcccgaacctc					rs200449490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCACCATAGCGTCATATAATT	0.348										HNSCC(35;0.089)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		15212	0.0		0.0	False		,,,				2504	0.0					ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3730-3732)gaC>gaT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						64	61	62					3																	164735363		2203	4298	6501	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735363G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3732C>T	3.37:g.164735363G>A		HNSCC(35;0.089)					p.D1244D	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3794	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1244			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3732C>T	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		28	228	0	0	0	1	0	28	228					A	164735363	G	A	164735363	2	1	79	1	0	0	0	0	0	0	0	1	14347	1136	40	1		1	SI	3	164735363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	164735363	33287067	4799	15116	92	2									
SI	6476	broad.mit.edu	37	chr3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgccaaatctgcatctgGataacaattaaatctttcat	5	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	945	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGCATCTGGATAACAATTA	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2833-2835)Cca>Tca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						89	95	93					3																	164748559		2202	4295	6497	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748559G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2833C>T	3.37:g.164748559G>A	ENSP00000264382:p.Pro945Ser	HNSCC(35;0.089)					p.P945S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2895	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	945			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2833C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936796	0.52972	.	.	ENSG00000090402	ENST00000264382	T	0.12984	2.63	4.94	4.94	0.65067	P-type trefoil (4);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.89785	3.06	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	T	0.54316	-0.8312	10	0.87932	D	0	.	15.0109	0.71550	0.0:0.0:1.0:0.0	.	945	P14410	SUIS_HUMAN	S	945	ENSP00000264382:P945S	ENSP00000264382:P945S	P	-	1	0	SI	166231253	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	5.498000	0.66931	2.563000	0.86464	0.655000	0.94253	CCA		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		73	346	0	0	0	1	0	73	346					A	164748559	G	A	164748559	3	1	79	1	0	0	0	0	1	0	0	0	14347	1174	41	2	2746	2	SI	3	164748559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13196	164748559	33273871	4800	15117											
SLITRK3	22865	broad.mit.edu	37	chr3	164906516	164906516	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcctgtggcattgcatttgGatgccagtaaggtccacacc	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	701					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTGCATTTGGATGCCAGTAA	0.577										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2101-2103)atC>atA		SLIT and NTRK-like family, member 3							97	73	82					3																	164906516		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906516G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2103C>A	3.37:g.164906516G>T		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.I701I	p.I701I			O94933	SLIK3_HUMAN			2	2546	-			701					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2103C>A	CCDS3197.1																																																																																				0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		74	293	1	0	3.27973e-32	1	3.87147e-32	74	293					T	164906516	G	T	164906516	2	4	79	1	0	0	0	0	0	0	0	1	14794	1164	41	3		3	SLITRK3	3	164906516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157957	164906516	33115914	4801	15118											
SLITRK3	22865	broad.mit.edu	37	chr3	164906549	164906549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccttcctgccgcttGcttctgaagggcagcttctt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	690					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGCCGCTTGCTTCTGAAGG	0.562										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2068-2070)agC>agT		SLIT and NTRK-like family, member 3							90	72	78					3																	164906549		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906549G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2070C>T	3.37:g.164906549G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.S690S	p.S690S			O94933	SLIK3_HUMAN			2	2513	-			690					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2070C>T	CCDS3197.1																																																																																				0.562	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		57	271	0	0	0	1	0	57	271					A	164906549	G	A	164906549	2	1	79	1	0	0	0	0	0	0	0	1	14794	1310	46	2		2	SLITRK3	3	164906549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	164906549	33115881	4802	15119											
SLITRK3	22865	broad.mit.edu	37	chr3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccagctcaatagtgCgcacatcacggtgcgtgagg	12	11	2	1	rs201622569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCAATAGTGCGCACATCACG	0.547										HNSCC(40;0.11)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0					ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1807-1809)cGc>cAc		SLIT and NTRK-like family, member 3							69	64	66					3																	164906811		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906811C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1808G>A	3.37:g.164906811C>T	ENSP00000420091:p.Arg603His	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H	p.R603H			O94933	SLIK3_HUMAN			2	2251	-			603			LRRCT 2.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1808G>A	CCDS3197.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.60	2.584322	0.46110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.70692	0.3253	M	0.90019	3.08	0.48571	D	0.999676	D	0.76494	0.999	P	0.61722	0.893	T	0.76438	-0.2959	10	0.87932	D	0	-16.8764	13.0864	0.59142	0.0:0.9257:0.0:0.0743	.	603	O94933	SLIK3_HUMAN	H	603	ENSP00000420091:R603H;ENSP00000241274:R603H	ENSP00000241274:R603H	R	-	2	0	SLITRK3	166389505	0.999000	0.42202	0.998000	0.56505	0.383000	0.30230	3.207000	0.51106	2.836000	0.97738	0.655000	0.94253	CGC		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		47	196	0	0	0	1	0	47	196					T	164906811	C	T	164906811	3	4	79	1	0	0	0	0	1	0	0	0	14794	768	27	1	1129	1	SLITRK3	3	164906811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	164906811	33115619	4803	15120											
BCHE	590	broad.mit.edu	37	chr3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatctattaattagagacCcacacaactttctttcttgc	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	601					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1801-1803)Ggt>Agt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						105	102	103					3																	165491178		2201	4298	6499	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491178C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1801G>A	3.37:g.165491178C>T	ENSP00000264381:p.Gly601Ser					BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	p.G601S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1967	-			601					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1801G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187387	0.57909	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.78003	-0.12;-1.14;-1.12	5.18	5.18	0.71444	Acetylcholinesterase, tetramerisation (2);	0.455528	0.22190	N	0.063389	T	0.73233	0.3561	L	0.45581	1.43	0.42790	D	0.993894	B	0.14805	0.011	B	0.18263	0.021	T	0.67530	-0.5647	10	0.25751	T	0.34	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	601	P06276	CHLE_HUMAN	S	601;131;63	ENSP00000264381:G601S;ENSP00000418325:G131S;ENSP00000443583:G63S	ENSP00000264381:G601S	G	-	1	0	BCHE	166973872	1.000000	0.71417	0.500000	0.27589	0.988000	0.76386	4.683000	0.61679	2.552000	0.86080	0.650000	0.86243	GGT		0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			25	97	0	0	0	1	0	25	97					T	165491178	C	T	165491178	3	4	79	1	0	0	0	0	1	0	0	0	1359	623	22	2	11	2	BCHE	3	165491178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584367	165491178	32531252	4804	15121											
BCHE	590	broad.mit.edu	37	chr3	165504015	165504015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtcattattcttgttgaCtctgtattcaaggttagata	7	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	534					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1600-1602)gaG>gaA		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						153	140	144					3																	165504015		2203	4299	6502	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165504015C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1602G>A	3.37:g.165504015C>T						BCHE_ENST00000540653.1_5'UTR	p.E534E	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			3	1768	-			534					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1602G>A	CCDS3198.1																																																																																				0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			34	177	0	0	0	1	0	34	177					T	165504015	C	T	165504015	2	4	79	1	0	0	0	0	0	0	0	1	1359	564	20	2		2	BCHE	3	165504015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12837	165504015	32518415	4805	15122											
BCHE	590	broad.mit.edu	37	chr3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttcaaaatagtagaAaaaggcattatttccccatt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	446			F -> S (in BChE deficiency). {ECO:0000269|PubMed:7634491, ECO:0000269|PubMed:9191541}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1336-1338)Ttc>Gtc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						99	104	102					3																	165547486		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547486A>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1336T>G	3.37:g.165547486A>C	ENSP00000264381:p.Phe446Val					BCHE_ENST00000540653.1_Intron	p.F446V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1502	-			446		F -> S (in BChE deficiency).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1336T>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947231	0.18356	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.082823	0.64402	D	0.000001	T	0.50803	0.1637	N	0.13043	0.29	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.45425	-0.9262	10	0.25106	T	0.35	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	446	P06276	CHLE_HUMAN	V	446	ENSP00000264381:F446V	ENSP00000264381:F446V	F	-	1	0	BCHE	167030180	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.997000	0.49457	2.105000	0.64084	0.482000	0.46254	TTC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			95	511	0	0	0	1	0	95	511					C	165547486	A	C	165547486	3	2	79	1	0	0	0	0	1	0	0	0	1359	14	1	4	484	4	BCHE	3	165547486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43471	165547486	32474944	4806	15123											
ZBBX	79740	broad.mit.edu	37	chr3	167031904	167031904	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatcatgaaaagcacaActttcacatgtaggaacaaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000455345.2_Splice_Site_p.S425R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R|ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	425						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.e16-1		zinc finger, B-box domain containing							84	75	78					3																	167031904		1813	4071	5884	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167031904A>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1275-1T>G	3.37:g.167031904A>C						ZBBX_ENST00000455345.2_Splice_Site_p.S425_splice|ZBBX_ENST00000392764.1_Splice_Site_p.S396_splice|ZBBX_ENST00000392767.2_Splice_Site_p.S425_splice|ZBBX_ENST00000307529.5_Splice_Site_p.S425_splice	p.S425_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1615	-			425					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	37	c.1274_splice	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311074	0.10789	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15256	2.62;2.62;2.64;2.64;2.44	5.29	4.1	0.47936	.	0.565498	0.19403	N	0.115122	T	0.15478	0.0373	L	0.41824	1.3	0.30198	N	0.798877	P;B	0.39157	0.662;0.21	B;B	0.38655	0.278;0.144	T	0.06391	-1.0829	10	0.87932	D	0	.	9.318	0.37946	0.8187:0.1813:0.0:0.0	.	425;425	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	425;425;425;425;396	ENSP00000376519:S425R;ENSP00000376520:S425R;ENSP00000390232:S425R;ENSP00000305065:S425R;ENSP00000376517:S396R	ENSP00000305065:S425R	S	-	3	2	ZBBX	168514598	0.501000	0.26099	0.643000	0.29450	0.011000	0.07611	0.742000	0.26216	0.911000	0.36747	0.533000	0.62120	AGT		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Missense_Mutation	46	221	0	0	0	1	0	46	221					C	167031904	A	C	167031904	5	2	79	1	0	0	0	0	0	0	1	0	17570	57	2	4	1151	4	ZBBX	3	167031904	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484418	167031904	30990526	4807	15124											
ZBBX	79740	broad.mit.edu	37	chr3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttgaatctgttccttcaGcaattttaatttcacttttc	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	102						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(304-306)Ctg>Atg		zinc finger, B-box domain containing							37	38	38					3																	167078481		1778	4036	5814	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167078481G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.304C>A	3.37:g.167078481G>T	ENSP00000376519:p.Leu102Met					ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron	p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			7	644	-			102					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.304C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752272	0.49362	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	2.36;2.36;2.37;2.37;2.19;1.02	5.71	3.92	0.45320	.	.	.	.	.	T	0.59142	0.2172	M	0.66939	2.045	0.32798	N	0.500289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67647	-0.5617	9	0.66056	D	0.02	-2.8561	8.7091	0.34374	0.1735:0.0:0.8265:0.0	.	102;102	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	102;102;102;102;73;102	ENSP00000376519:L102M;ENSP00000376520:L102M;ENSP00000390232:L102M;ENSP00000305065:L102M;ENSP00000376517:L73M;ENSP00000419307:L102M	ENSP00000305065:L102M	L	-	1	2	ZBBX	168561175	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.899000	0.56288	0.887000	0.36136	0.650000	0.86243	CTG		0.254	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		21	121	1	0	9.57634e-11	1	1.01752e-10	21	121					T	167078481	G	T	167078481	3	4	79	1	0	0	0	0	1	0	0	0	17570	962	34	3	2158	3	ZBBX	3	167078481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46577	167078481	30943949	4808	15125											
SERPINI2	5276	broad.mit.edu	37	chr3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattcacagtgaatctaaatCtcttccttttatctcctggg	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1201-1203)Gat>Tat		serpin peptidase inhibitor, clade I (pancpin), member 2							131	120	124					3																	167159914		2203	4299	6502	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167159914C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1201G>T	3.37:g.167159914C>A	ENSP00000420621:p.Asp401Tyr					SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y	p.D401Y			O75830	SPI2_HUMAN			10	1499	-			401						Missense_Mutation	SNP	ENST00000476257.1	37	c.1201G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121718	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.07	6.07	0.98685	.	0.102307	0.64402	D	0.000004	D	0.90648	0.7067	L	0.54323	1.7	0.45239	D	0.998244	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90775	0.4675	10	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	401;401	B4DDY9;O75830	.;SPI2_HUMAN	Y	401	ENSP00000420621:D401Y;ENSP00000417692:D401Y;ENSP00000264677:D401Y;ENSP00000419407:D401Y	ENSP00000264677:D401Y	D	-	1	0	SERPINI2	168642608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.130000	0.57964	2.885000	0.99019	0.655000	0.94253	GAT		0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		11	97	1	0	2.27111e-07	1	2.35674e-07	11	97					A	167159914	C	A	167159914	3	1	79	1	0	0	0	0	1	0	0	0	14169	913	32	3	20	3	SERPINI2	3	167159914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81433	167159914	30862516	4809	15126											
WDR49	151790	broad.mit.edu	37	chr3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctcctgtggtaaggtatCgattcatcttatcagtagac	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1297-1299)cGa>cAa		WD repeat domain 49							96	92	93					3																	167246892		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167246892C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1298G>A	3.37:g.167246892C>T	ENSP00000311343:p.Arg433Gln					WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000479765.1_Intron	p.R433Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			10	1603	-			433					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1298G>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.267|0.267	-0.995346|-0.995346	0.02145|0.02145	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41400	.|1.55;1.29;1.0	5.52|5.52	-3.01|-3.01	0.05463|0.05463	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.026120	.|0.07712	.|N	.|0.942286	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.16201|0.16201	0.385|0.385	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.18166	.|0.026;0.005	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	5|10	.|0.02654	.|T	.|1	.|.	13.1587|13.1587	0.59533|0.59533	0.0:0.2771:0.0:0.7229|0.0:0.2771:0.0:0.7229	.|.	.|497;433	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	N|Q	509;71|433;258;497	.|ENSP00000311343:R433Q;ENSP00000420508:R258Q;ENSP00000410863:R497Q	.|ENSP00000311343:R433Q	D|R	-|-	1|2	0|0	WDR49|WDR49	168729586|168729586	0.671000|0.671000	0.27521|0.27521	0.106000|0.106000	0.21319|0.21319	0.317000|0.317000	0.28152|0.28152	-0.169000|-0.169000	0.09911|0.09911	-0.473000|-0.473000	0.06871|0.06871	-0.253000|-0.253000	0.11424|0.11424	GAT|CGA		0.343	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		54	224	0	0	0	1	0	54	224					T	167246892	C	T	167246892	3	4	79	1	0	0	0	0	1	0	0	0	17356	884	31	1	819	1	WDR49	3	167246892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86978	167246892	30775538	4810	15127											
WDR49	151790	broad.mit.edu	37	chr3	167293928	167293928	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctggtgttgaatatcccaGagtctcaaaacctggatgaa	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(262-264)ctC>ctA		WD repeat domain 49							61	58	59					3																	167293928		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167293928G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.264C>A	3.37:g.167293928G>T						WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000479765.1_Silent_p.L429L	p.L88L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			4	569	-			88					Q8N297	Silent	SNP	ENST00000308378.3	37	c.264C>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		39	165	1	0	3.33393e-15	1	3.63836e-15	39	165					T	167293928	G	T	167293928	2	4	79	1	0	0	0	0	0	0	0	1	17356	929	33	3		3	WDR49	3	167293928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47036	167293928	30728502	4811	15128											
SERPINI1	5274	broad.mit.edu	37	chr3	167508215	167508215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtaactgctaaagagagCcaatatgtgatgaaaattgc	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	102					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAAGAGAGCCAATATGTGA	0.328																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(304-306)agC>agT		serpin peptidase inhibitor, clade I (neuroserpin), member 1							88	90	89					3																	167508215		2203	4300	6503	SO:0001819	synonymous_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508215C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.306C>T	3.37:g.167508215C>T						SERPINI1_ENST00000446050.2_Silent_p.S102S	p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	737	+			102					A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	c.306C>T	CCDS3203.1																																																																																				0.328	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			52	357	0	0	0	1	0	52	357					T	167508215	C	T	167508215	2	4	79	1	0	0	0	0	0	0	0	1	14168	738	26	2		2	SERPINI1	3	167508215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214287	167508215	30514215	4812	15129											
GOLIM4	27333	broad.mit.edu	37	chr3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaagtctcaccacctcCttcctctccttggattccct	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000470487.1	-	11	2199	c.1510G>T	c.(1510-1512)Gga>Tga	p.G504*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	504	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACCACCTCCTTCCTCTCCT	0.373																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1510-1512)Gga>Tga		golgi integral membrane protein 4							125	108	114					3																	167747014		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747014C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1510G>T	3.37:g.167747014C>A	ENSP00000417354:p.Gly504*					GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	p.G504*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			11	2199	-			504			Gln-rich.|Glu-rich.			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1510G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	45	11.814472	0.99605	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.253136	0.39615	N	0.001302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	504;476	.	ENSP00000309893:G476X	G	-	1	0	GOLIM4	169229708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.325000	0.78763	0.549000	0.68633	GGA		0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			65	232	1	0	3.94896e-32	1	4.66014e-32	65	232					A	167747014	C	A	167747014	4	1	79	1	0	0	0	0	0	1	0	0	6595	690	24	3	604	3	GOLIM4	3	167747014	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238799	167747014	30275416	4813	15130											
MECOM	2122	broad.mit.edu	37	chr3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggactttctgtgtaacgGctgcttaagttcctctggca	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGTGTAACGGCTGCTTAAGT	0.388																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2968-2970)Ccg>Acg		MDS1 and EVI1 complex locus							126	120	122					3																	168806814		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168806814G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2968C>A	3.37:g.168806814G>T	ENSP00000419770:p.Pro990Thr					MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T	p.P990T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			14	4168	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2968C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399013	0.01165	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04049	3.78;3.78;3.73;3.88;3.73;3.78;3.72;3.88	5.63	4.75	0.60458	.	0.188744	0.37857	N	0.001913	T	0.02230	0.0069	N	0.03154	-0.405	0.54753	D	0.999988	B;B;B;B;B	0.31193	0.312;0.028;0.208;0.069;0.017	B;B;B;B;B	0.25884	0.064;0.027;0.029;0.043;0.012	T	0.39663	-0.9603	10	0.02654	T	1	-3.2994	16.4979	0.84250	0.0:0.0:0.8684:0.1316	.	1187;991;1178;1064;999	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1064;999;990;1000;1178;999;990;1000	ENSP00000264674:P1064T;ENSP00000376493:P999T;ENSP00000419770:P990T;ENSP00000420048:P1000T;ENSP00000417899:P1178T;ENSP00000419995:P999T;ENSP00000420466:P990T;ENSP00000394302:P1000T	ENSP00000264674:P1064T	P	-	1	0	MECOM	170289508	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	6.803000	0.75180	1.502000	0.48669	0.655000	0.94253	CCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		63	386	1	0	6.5469e-37	1	7.85029e-37	63	386					T	168806814	G	T	168806814	3	4	79	1	0	0	0	0	1	0	0	0	9463	1203	42	3	168	3	MECOM	3	168806814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1059800	168806814	29215616	4814	15131											
MECOM	2122	broad.mit.edu	37	chr3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaactcatctccagggCactggtttcttcatagtcat	7	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTCCAGGGCACTGGTTTCT	0.438																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2776-2778)Gcc>Acc		MDS1 and EVI1 complex locus							208	196	200					3																	168807822		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807822C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2776G>A	3.37:g.168807822C>T	ENSP00000419770:p.Ala926Thr					MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T	p.A926T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	3976	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2776G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006924	0.07866	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.5;3.5;3.47;3.6;3.46;3.5;3.47;3.6	5.46	1.75	0.24633	.	1.124900	0.06634	N	0.759856	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	1.011	9.325	0.37988	0.0:0.5529:0.0:0.4471	.	1123;927;1114;1000;935	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1000;935;926;936;1114;935;926;936	ENSP00000264674:A1000T;ENSP00000376493:A935T;ENSP00000419770:A926T;ENSP00000420048:A936T;ENSP00000417899:A1114T;ENSP00000419995:A935T;ENSP00000420466:A926T;ENSP00000394302:A936T	ENSP00000264674:A1000T	A	-	1	0	MECOM	170290516	0.040000	0.19996	0.003000	0.11579	0.000000	0.00434	0.015000	0.13355	0.043000	0.15746	-0.827000	0.03088	GCC		0.438	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		106	512	0	0	0	1	0	106	512					T	168807822	C	T	168807822	3	4	79	1	0	0	0	0	1	0	0	0	9463	710	25	2	364	2	MECOM	3	168807822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	168807822	29214608	4815	15132											
MECOM	2122	broad.mit.edu	37	chr3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttctctggcagggcattggGaggcgccctgaagttgaaca	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGGGCATTGGGAGGCGCCCTG	0.512																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2125-2127)Ccc>Tcc		MDS1 and EVI1 complex locus							75	70	72					3																	168819903		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819903G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2125C>T	3.37:g.168819903G>A	ENSP00000419770:p.Pro709Ser					MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S	p.P709S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3325	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2125C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562745	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.21;3.21;3.12;3.31;3.12;3.21;3.11;3.31	5.45	5.45	0.79879	.	0.088883	0.49916	D	0.000133	T	0.04770	0.0129	N	0.14661	0.345	0.52099	D	0.999948	B;B;B;B;B	0.16166	0.016;0.013;0.005;0.016;0.009	B;B;B;B;B	0.17722	0.019;0.007;0.008;0.01;0.004	T	0.17745	-1.0359	10	0.02654	T	1	-11.5724	12.9639	0.58473	0.074:0.0:0.926:0.0	.	906;710;897;783;718	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	783;718;709;719;897;718;709;719	ENSP00000264674:P783S;ENSP00000376493:P718S;ENSP00000419770:P709S;ENSP00000420048:P719S;ENSP00000417899:P897S;ENSP00000419995:P718S;ENSP00000420466:P709S;ENSP00000394302:P719S	ENSP00000264674:P783S	P	-	1	0	MECOM	170302597	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.367000	0.73099	2.730000	0.93505	0.655000	0.94253	CCC		0.512	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		34	206	0	0	0	1	0	34	206					A	168819903	G	A	168819903	3	1	79	1	0	0	0	0	1	0	0	0	9463	1174	41	2	1031	2	MECOM	3	168819903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12081	168819903	29202527	4816	15133											
MECOM	2122	broad.mit.edu	37	chr3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagctttgtcccactgGctctactcctactgcccata	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	5					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCCCACTGGCTCTACTCCT	0.532																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1783-1785)gCc>gAc		MDS1 and EVI1 complex locus							149	138	142					3																	168833312		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833312G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1784C>A	3.37:g.168833312G>T	ENSP00000419770:p.Ala595Asp					MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D	p.A595D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2984	-			5					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1784C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814546	0.50527	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.08458	3.38;3.37;3.34;3.48;3.32;3.37;3.33;3.48;3.09	5.61	5.61	0.85477	.	0.343104	0.21326	N	0.076363	T	0.21921	0.0528	L	0.49350	1.555	0.51012	D	0.999901	D;D;D;D;P	0.60575	0.988;0.985;0.98;0.985;0.932	P;P;P;P;P	0.57776	0.827;0.775;0.696;0.775;0.454	T	0.00071	-1.2131	10	0.46703	T	0.11	-9.0053	19.6299	0.95698	0.0:0.0:1.0:0.0	.	783;596;783;660;595	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	660;595;595;596;783;595;595;596;246	ENSP00000264674:A660D;ENSP00000376493:A595D;ENSP00000419770:A595D;ENSP00000420048:A596D;ENSP00000417899:A783D;ENSP00000419995:A595D;ENSP00000420466:A595D;ENSP00000394302:A596D;ENSP00000417506:A246D	ENSP00000264674:A660D	A	-	2	0	MECOM	170316006	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.709000	0.68384	2.639000	0.89480	0.655000	0.94253	GCC		0.532	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		74	273	1	0	1.43987e-31	1	1.69592e-31	74	273					T	168833312	G	T	168833312	3	4	79	1	0	0	0	0	1	0	0	0	9463	1203	42	3	1411	3	MECOM	3	168833312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13409	168833312	29189118	4817	15134											
MECOM	2122	broad.mit.edu	37	chr3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcttattgtcccctaCagatgggtgtttagatagtg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGTCCCCTACAGATGGGTGT	0.473																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1087-1089)Gta>Ata		MDS1 and EVI1 complex locus							418	351	373					3																	168834009		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834009C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1087G>A	3.37:g.168834009C>T	ENSP00000419770:p.Val363Ile					MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I	p.V363I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2287	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1087G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851529	0.17034	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.5;3.5;3.46;3.6;3.45;3.5;3.45;3.6	6.03	5.15	0.70609	.	0.000000	0.44688	D	0.000431	T	0.05960	0.0155	L	0.34521	1.04	0.29860	N	0.827733	B;B;B;B;B	0.13594	0.008;0.002;0.005;0.004;0.0	B;B;B;B;B	0.12156	0.007;0.007;0.003;0.005;0.001	T	0.10337	-1.0634	10	0.37606	T	0.19	-6.5751	9.695	0.40152	0.0:0.7931:0.0:0.2069	.	551;364;551;428;363	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	428;363;363;364;551;363;363;364	ENSP00000264674:V428I;ENSP00000376493:V363I;ENSP00000419770:V363I;ENSP00000420048:V364I;ENSP00000417899:V551I;ENSP00000419995:V363I;ENSP00000420466:V363I;ENSP00000394302:V364I	ENSP00000264674:V428I	V	-	1	0	MECOM	170316703	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	1.131000	0.31406	1.558000	0.49541	0.655000	0.94253	GTA		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		88	349	0	0	0	1	0	88	349					T	168834009	C	T	168834009	3	4	79	1	0	0	0	0	1	0	0	0	9463	478	17	2	2108	2	MECOM	3	168834009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	168834009	29188421	4818	15135											
MECOM	2122	broad.mit.edu	37	chr3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggccagtttccttgccCtgcctttggatctcatgctg	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	6					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCTTGCCCTGCCTTTGGA	0.532																																						ENST00000494292.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(16-18)aGg>aAg		MDS1 and EVI1 complex locus							94	107	103					3																	169381144		2024	4178	6202	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:169381144C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.17G>A	3.37:g.169381144C>T	ENSP00000417899:p.Arg6Lys					MECOM_ENST00000485957.1_5'UTR	p.R6K	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN			1	114	-			6					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37	c.17G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.338064	0.81911	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.06608	3.28	4.75	4.75	0.60458	.	.	.	.	.	T	0.19087	0.0458	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.83275	0.996;0.953	T	0.00958	-1.1500	9	0.87932	D	0	.	18.135	0.89616	0.0:1.0:0.0:0.0	.	6;6	Q13465;Q03112-3	MDS1_HUMAN;.	K	6	ENSP00000417899:R6K	ENSP00000419537:R6K	R	-	2	0	MECOM	170863838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.370000	0.80446	0.455000	0.32223	AGG		0.532	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		14	64	0	0	0	1	0	14	64					T	169381144	C	T	169381144	3	4	79	1	0	0	0	0	1	0	0	0	9463	681	24	2	3780	2	MECOM	3	169381144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547135	169381144	28641286	4819	15136											
MYNN	55892	broad.mit.edu	37	chr3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcgagagaaatcagaagTatctacagatttgattcagg	9	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000392733.1_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAATCAGAAGTATCTACAGAT	0.363																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(472-474)gTa>gCa		myoneurin							47	50	49					3																	169496762		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496762T>C	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.473T>C	3.37:g.169496762T>C	ENSP00000326240:p.Val158Ala					MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA	p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1136	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		158					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.473T>C	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	T	1.054	-0.674914	0.03378	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09163	3.19;3.19;3.01;3.01	5.35	-1.78	0.07957	.	0.717193	0.13188	N	0.407007	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42716	-0.9435	10	0.09338	T	0.73	.	1.5239	0.02521	0.1183:0.2205:0.2597:0.4016	.	158;158	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	158	ENSP00000349150:V158A;ENSP00000326240:V158A;ENSP00000376492:V158A;ENSP00000440637:V158A	ENSP00000326240:V158A	V	+	2	0	MYNN	170979456	0.035000	0.19736	0.322000	0.25334	0.931000	0.56810	0.174000	0.16743	-0.229000	0.09854	0.528000	0.53228	GTA		0.363	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		9	208	0	0	0	1	0	9	208					C	169496762	T	C	169496762	3	2	79	1	0	0	0	0	1	0	0	0	10102	1638	57	4	479	4	MYNN	3	169496762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115618	169496762	28525668	4820	15137											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcccgaagagcttcgccGagctcaggaagatgacggaa	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(763-765)Gag>Aag		leucine-rich repeats and IQ motif containing 4							33	36	35					3																	169540472		1994	4159	6153	SO:0001583	missense	344657							g.chr3:169540472G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.763G>A	3.37:g.169540472G>A	ENSP00000342188:p.Glu255Lys						p.E255K	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	763	+			255						Missense_Mutation	SNP	ENST00000340806.6	37	c.763G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		44	188	0	0	0	1	0	44	188					A	169540472	G	A	169540472	3	1	79	1	0	0	0	0	1	0	0	0	9069	1059	37	1	765	1	LRRIQ4	3	169540472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43710	169540472	28481958	4821	15138											
LRRIQ4	344657	broad.mit.edu	37	chr3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctagaagttcttgattgCcggcacaatttgcttaagca	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1282-1284)tgC>tgA		leucine-rich repeats and IQ motif containing 4							76	75	76					3																	169548369		1889	4107	5996	SO:0001587	stop_gained	344657							g.chr3:169548369C>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1284C>A	3.37:g.169548369C>A	ENSP00000342188:p.Cys428*						p.C428*	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			3	1284	+			428						Nonsense_Mutation	SNP	ENST00000340806.6	37	c.1284C>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494819	0.96339	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	2.04	0.26737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.228	0.26026	0.0:0.5221:0.0:0.4779	.	.	.	.	X	428	.	ENSP00000342188:C428X	C	+	3	2	LRRIQ4	171031063	0.877000	0.30153	0.994000	0.49952	0.959000	0.62525	-0.176000	0.09811	0.547000	0.28938	0.655000	0.94253	TGC		0.438	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		22	113	1	0	2.37509e-13	1	2.56396e-13	22	113					A	169548369	C	A	169548369	4	1	79	1	0	0	0	0	0	1	0	0	9069	747	26	3	1294	3	LRRIQ4	3	169548369	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7897	169548369	28474061	4822	15139											
PHC3	80012	broad.mit.edu	37	chr3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaagatgggatggaAgattcaactgtgctgtagct	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000494943.1	-	8	1423	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	PHC3_ENST00000495893.2_Missense_Mutation_p.L464R|PHC3_ENST00000467570.1_Missense_Mutation_p.L411R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	452	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGATGGAAGATTCAACTG	0.522																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(1354-1356)cTt>cGt		polyhomeotic homolog 3 (Drosophila)							63	65	64					3																	169846869		2085	4211	6296	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846869A>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1355T>G	3.37:g.169846869A>C	ENSP00000420271:p.Leu452Arg					PHC3_ENST00000467570.1_Missense_Mutation_p.L411R|PHC3_ENST00000495893.1_Missense_Mutation_p.L464R	p.L452R			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1423	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		452			Gln-rich.|Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1355T>G		.	.	.	.	.	.	.	.	.	.	A	14.10	2.434475	0.43224	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.4	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000023	T	0.47395	0.1443	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;P;D	0.66351	0.943;0.943;0.878;0.943	T	0.27872	-1.0061	10	0.15952	T	0.53	-11.6484	14.6811	0.69017	1.0:0.0:0.0:0.0	.	411;411;452;464	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	452;464;411	ENSP00000420271:L452R;ENSP00000420294:L464R	ENSP00000419089:L411R	L	-	2	0	PHC3	171329563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.039000	0.60335	0.460000	0.39030	CTT		0.522	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		27	88	0	0	0	1	0	27	88					C	169846869	A	C	169846869	3	2	79	1	0	0	0	0	1	0	0	0	11860	72	3	4	1628	4	PHC3	3	169846869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298500	169846869	28175561	4823	15140											
PHC3	80012	broad.mit.edu	37	chr3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgggagctgcttaaatGctgctgctgaagagctgcag	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000494943.1	-	3	327	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000495893.2_Missense_Mutation_p.H99Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	87					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTTAAATGCTGCTGCTGA	0.468																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(259-261)Cat>Tat		polyhomeotic homolog 3 (Drosophila)							74	73	73					3																	169890386		1923	4134	6057	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169890386G>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.259C>T	3.37:g.169890386G>A	ENSP00000420271:p.His87Tyr					PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000495893.1_Missense_Mutation_p.H99Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y	p.H87Y			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		3	327	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		87					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.259C>T		.	.	.	.	.	.	.	.	.	.	G	14.93	2.682923	0.47991	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.46451	0.87;0.89	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.64962	0.2646	M	0.69358	2.11	0.58432	D	0.99999	D;D;D;D;D;P;D;D	0.67145	0.989;0.989;0.981;0.989;0.996;0.908;0.989;0.989	D;D;D;D;D;D;D;D	0.78314	0.969;0.979;0.954;0.979;0.991;0.922;0.979;0.979	T	0.62006	-0.6945	9	.	.	.	-12.3087	19.8505	0.96738	0.0:0.0:1.0:0.0	.	99;99;87;99;95;83;99;99	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	Y	87;99;99;99;99;99;83;99;99;95	ENSP00000420271:H87Y;ENSP00000420294:H99Y	.	H	-	1	0	PHC3	171373080	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.893000	0.92498	2.688000	0.91661	0.655000	0.94253	CAT		0.468	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		71	250	0	0	0	1	0	71	250					A	169890386	G	A	169890386	3	1	79	1	0	0	0	0	1	0	0	0	11860	1319	46	2	2744	2	PHC3	3	169890386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43517	169890386	28132044	4824	15141											
PRKCI	5584	broad.mit.edu	37	chr3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcacagaccgaatatgggGacttggacgccaaggatata	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	163	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CGAATATGGGGACTTGGACGC	0.418																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(487-489)gGa>gAa		protein kinase C, iota							123	112	116					3																	169988246		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169988246G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.488G>A	3.37:g.169988246G>A	ENSP00000295797:p.Gly163Glu						p.G163E	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		6	793	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		163			Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.488G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000163558	ENST00000295797	D	0.93659	-3.26	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	9	.	.	.	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	163	P41743	KPCI_HUMAN	E	163	ENSP00000295797:G163E	.	G	+	2	0	PRKCI	171470940	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.847000	0.99503	2.695000	0.91970	0.591000	0.81541	GGA		0.418	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		74	378	0	0	0	1	0	74	378					A	169988246	G	A	169988246	3	1	79	1	0	0	0	0	1	0	0	0	12561	1174	41	2	510	2	PRKCI	3	169988246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97860	169988246	28034184	4825	15142											
PRKCI	5584	broad.mit.edu	37	chr3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgagggataatttatagaGatttgaaactggacaatgta	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AATTTATAGAGATTTGAAACT	0.308																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1132-1134)Gat>Aat		protein kinase C, iota							60	61	61					3																	170002313		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002313G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1132G>A	3.37:g.170002313G>A	ENSP00000295797:p.Asp378Asn						p.D378N	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1437	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		378			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1132G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.260702	0.95368	.	.	ENSG00000163558	ENST00000295797	D	0.92965	-3.14	5.34	5.34	0.76211	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	0.96809	0.8958	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	9	.	.	.	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	378	P41743	KPCI_HUMAN	N	378	ENSP00000295797:D378N	.	D	+	1	0	PRKCI	171485007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.642000	0.89623	0.650000	0.86243	GAT		0.308	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		14	252	0	0	0	1	0	14	252					A	170002313	G	A	170002313	3	1	79	1	0	0	0	0	1	0	0	0	12561	942	33	2	1178	2	PRKCI	3	170002313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14067	170002313	28020117	4826	15143											
PRKCI	5584	broad.mit.edu	37	chr3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatacaaccagcactttcTgtggtactcctaattacatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CAGCACTTTCTGTGGTACTCC	0.333																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1240-1242)Tgt>Cgt		protein kinase C, iota							59	60	60					3																	170009678		2203	4296	6499	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170009678T>C		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1240T>C	3.37:g.170009678T>C	ENSP00000295797:p.Cys414Arg						p.C414R	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		13	1545	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		414			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1240T>C	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157508	0.78114	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.21	5.21	0.72293	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	0.83681	0.5307	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86293	0.1675	9	.	.	.	.	15.3646	0.74510	0.0:0.0:0.0:1.0	.	414	P41743	KPCI_HUMAN	R	414	ENSP00000295797:C414R	.	C	+	1	0	PRKCI	171492372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.078000	0.62432	0.482000	0.46254	TGT		0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		40	163	0	0	0	1	0	40	163					C	170009678	T	C	170009678	3	2	79	1	0	0	0	0	1	0	0	0	12561	1580	55	4	1290	4	PRKCI	3	170009678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	170009678	28012752	4827	15144											
SKIL	6498	broad.mit.edu	37	chr3	170108126	170108126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgccgcttcatctccGcttcttgtgaaagatgtcat	9	11	4	2	rs375044899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	ENST00000458537.3	+	4	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	515					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|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 axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCATCTCCGCTTCTTGTGA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17784	0.0		0.0	False		,,,				2504	0.0					ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(1543-1545)ccG>ccA		SKI-like oncogene		G	,,	4,4402	8.1+/-20.4	0,4,2199	116	107	110		1407,1485,1545	-4.3	0.2	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SKIL	NM_001145097.1,NM_001145098.1,NM_005414.3	,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,	469/639,495/665,515/685	170108126	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170108126G>A	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1545G>A	3.37:g.170108126G>A						SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	p.P515P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		4	2254	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		515					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.1545G>A	CCDS33890.1																																																																																				0.363	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		18	482	0	0	0	1	0	18	482					A	170108126	G	A	170108126	2	1	79	1	0	0	0	0	0	0	0	1	14408	1074	38	1		1	SKIL	3	170108126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98448	170108126	27914304	4828	15145											
RPL22L1	200916	broad.mit.edu	37	chr3	170585924	170585924	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcccgtagaaattgctcCtattttaaaacagaaaaaat	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1						translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358																																						ENST00000295830.8																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.e3-1		ribosomal protein L22-like 1							45	40	42					3																	170585924		1802	4060	5862	SO:0001630	splice_region_variant	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170585924C>A	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.103-1G>T	3.37:g.170585924C>A						RPL22L1_ENST00000463836.1_Splice_Site		NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	418	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)							Q32Q77	Splice_Site	SNP	ENST00000295830.8	37		CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494590	0.85069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL22L1	172068618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	.		0.358	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317	Intron	5	45	1	0	0.00198382	1	0.00200138	5	45					A	170585924	C	A	170585924	5	1	79	1	0	0	0	0	0	0	1	0	13619	695	24	3	274	3	RPL22L1	3	170585924	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477798	170585924	27436506	4829	15146											
TNIK	23043	broad.mit.edu	37	chr3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcctctaactgtcGcctgatgtattcctggagag	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	449	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTAACTGTCGCCTGATGTAT	0.468																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1345-1347)Cga>Tga		TRAF2 and NCK interacting kinase							162	150	154					3																	170857333		1929	4144	6073	SO:0001587	stop_gained	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170857333G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1345C>T	3.37:g.170857333G>A	ENSP00000399511:p.Arg449*					TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*	p.R449*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1689	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		449			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	c.1345C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.242205	0.99111	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	.	.	.	5.63	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.972	0.80027	0.0:0.0:0.8648:0.1352	.	.	.	.	X	449	.	ENSP00000284483:R449X	R	-	1	2	TNIK	172340027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.035000	0.64158	2.648000	0.89879	0.591000	0.81541	CGA		0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		127	502	0	0	0	1	0	127	502					A	170857333	G	A	170857333	4	1	79	1	0	0	0	0	0	1	0	0	16365	1095	38	1	2817	1	TNIK	3	170857333	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271409	170857333	27165097	4830	15147											
TNIK	23043	broad.mit.edu	37	chr3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcagctccttctctcGcctttgttgctgtggggcaa	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTTCTCTCGCCTTTGTTGC	0.622																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1231-1233)Cga>Tga		TRAF2 and NCK interacting kinase							70	75	74					3																	170858289		2005	4163	6168	SO:0001587	stop_gained	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858289G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1231C>T	3.37:g.170858289G>A	ENSP00000399511:p.Arg411*					TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*	p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1575	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		411			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	c.1231C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142123	0.77775	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.55	1.01	0.19927	.	0.062787	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2317	0.43258	0.0:0.0959:0.3853:0.5188	.	.	.	.	X	411	.	ENSP00000284483:R411X	R	-	1	2	TNIK	172340983	0.996000	0.38824	0.942000	0.38095	0.233000	0.25261	1.042000	0.30303	0.243000	0.21327	-0.182000	0.12963	CGA		0.622	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		60	702	0	0	0	1	0	60	702					A	170858289	G	A	170858289	4	1	79	1	0	0	0	0	0	1	0	0	16365	1095	38	1	2935	1	TNIK	3	170858289	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	956	170858289	27164141	4831	15148											
TNIK	23043	broad.mit.edu	37	chr3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggttctttttgataaaaGcaccatagtatgtagcaata	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGATAAAAGCACCATAGTA	0.353																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(262-264)gCt>gAt		TRAF2 and NCK interacting kinase							120	117	118					3																	170928948		1831	4093	5924	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170928948G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.263C>A	3.37:g.170928948G>T	ENSP00000399511:p.Ala88Asp					TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D	p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		4	607	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		88			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.263C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314813	0.95655	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.16	6.16	0.99307	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	0.82291	0.5005	M	0.66560	2.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.991;0.997;0.998;0.992;0.997;0.997;0.998;0.998	T	0.81854	-0.0741	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88;88;88	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	D	88;88;88;88;88;88;88;88;88;88;62	ENSP00000399511:A88D;ENSP00000358332:A88D;ENSP00000443278:A88D;ENSP00000345352:A88D;ENSP00000284483:A88D;ENSP00000418156:A88D;ENSP00000349880:A88D;ENSP00000418916:A88D;ENSP00000418378:A88D;ENSP00000419990:A88D;ENSP00000417338:A62D	ENSP00000284483:A88D	A	-	2	0	TNIK	172411642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		45	204	1	0	3.43241e-23	1	3.89856e-23	45	204					T	170928948	G	T	170928948	3	4	79	1	0	0	0	0	1	0	0	0	16365	971	34	3	3939	3	TNIK	3	170928948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70659	170928948	27093482	4832	15149											
NCEH1	57552	broad.mit.edu	37	chr3	172351691	172351691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgaagtgtgattgttaacGatcattgcctgcacaaagtc	10	7	1	2	rs375246483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I|NCEH1_ENST00000273512.3_Silent_p.I299I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(799-801)atC>atT		neutral cholesterol ester hydrolase 1							117	110	113					3																	172351691		2203	4300	6503	SO:0001819	synonymous_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172351691G>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.801C>T	3.37:g.172351691G>A						NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I	p.I267I			Q6PIU2	NCEH1_HUMAN			5	1034	-			267					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	37	c.801C>T		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457690	0.01071	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.30940	N	0.725957	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	-6.8028	4.8734	0.13644	0.2386:0.2399:0.4538:0.0677	.	.	.	.	L	298	.	.	S	-	2	0	NCEH1	173834385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.984000	0.01487	-4.969000	0.00025	-2.032000	0.00423	TCG		0.478	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		17	317	0	0	0	1	0	17	317					A	172351691	G	A	172351691	2	1	79	1	0	0	0	0	0	0	0	1	10257	1048	37	1		1	NCEH1	3	172351691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1422743	172351691	25670739	4833	15150											
NCEH1	57552	broad.mit.edu	37	chr3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggatataaacgacgctgCgtttcagtggctcttcgggc	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H|NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	107					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(319-321)cGc>cAc		neutral cholesterol ester hydrolase 1							76	68	71					3																	172365723		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365723C>T	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.320G>A	3.37:g.172365723C>T	ENSP00000418571:p.Arg107His					NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H	p.R107H			Q6PIU2	NCEH1_HUMAN			2	553	-			107					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.320G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353719|3.353719	0.61293|0.61293	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512	.|T;T;T	.|0.58940	.|0.3;0.3;0.3	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.098474	.|0.64402	.|D	.|0.000003	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.68483	.|0.958;0.819	T|T	0.76170|0.76170	-0.3057|-0.3057	5|10	.|0.87932	.|D	.|0	-21.2305|-21.2305	13.348|13.348	0.60584|0.60584	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|139;107	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	T|H	130|107;139;139	.|ENSP00000418571:R107H;ENSP00000442464:R139H;ENSP00000273512:R139H	.|ENSP00000273512:R139H	A|R	-|-	1|2	0|0	NCEH1|NCEH1	173848417|173848417	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.020000|0.020000	0.10135|0.10135	4.529000|4.529000	0.60588|0.60588	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.562	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		62	257	0	0	0	1	0	62	257					T	172365723	C	T	172365723	3	4	79	1	0	0	0	0	1	0	0	0	10257	768	27	1	946	1	NCEH1	3	172365723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14032	172365723	25656707	4834	15151											
NCEH1	57552	broad.mit.edu	37	chr3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttcggagggccttcaAacactctgacttccacacca	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C|NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	95					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(283-285)tTt>tGt		neutral cholesterol ester hydrolase 1							86	78	81					3																	172365759		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365759A>C	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.284T>G	3.37:g.172365759A>C	ENSP00000418571:p.Phe95Cys					NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C	p.F95C			Q6PIU2	NCEH1_HUMAN			2	517	-			95					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.284T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.12|18.12	3.553240|3.553240	0.65425|0.65425	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.095705|.	0.64402|.	D|.	0.000001|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.942|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|5	0.87932|.	D|.	0|.	-23.8409|-23.8409	12.1056|12.1056	0.53810|0.53810	0.8715:0.0:0.0:0.1285|0.8715:0.0:0.0:0.1285	.|.	127;95|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	C|V	95;127;127|118	ENSP00000418571:F95C;ENSP00000442464:F127C;ENSP00000273512:F127C|.	ENSP00000273512:F127C|.	F|L	-|-	2|1	0|2	NCEH1|NCEH1	173848453|173848453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	5.542000|5.542000	0.67218|0.67218	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.517	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		54	283	0	0	0	1	0	54	283					C	172365759	A	C	172365759	3	2	79	1	0	0	0	0	1	0	0	0	10257	14	1	4	982	4	NCEH1	3	172365759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	172365759	25656671	4835	15152											
ECT2	1894	broad.mit.edu	37	chr3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaaaatccagacaaaaGcactttagaaaaagctattg	7	6	0	4	rs565477429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000392692.3	+	18	2041	c.1865G>A	c.(1864-1866)aGc>aAc	p.S622N	ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000417960.1_Missense_Mutation_p.S590N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAGACAAAAGCACTTTAGAA	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16781	0.0		0.0	False		,,,				2504	0.0					ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1768-1770)aGc>aAc		epithelial cell transforming sequence 2 oncogene							72	72	72					3																	172504322		2202	4294	6496	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172504322G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1865G>A	3.37:g.172504322G>A	ENSP00000376457:p.Ser622Asn					ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000392692.3_Missense_Mutation_p.S622N	p.S590N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		18	2246	+	Ovarian(172;0.00197)|Breast(254;0.158)		591			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1769G>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268507	0.23136	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.95	0.592	0.17471	Dbl homology (DH) domain (2);	0.292888	0.43110	N	0.000613	T	0.33789	0.0875	N	0.17345	0.48	0.27977	N	0.936193	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.10450	0.002;0.003;0.005;0.005;0.003	T	0.03818	-1.1001	10	0.19147	T	0.46	-3.4038	0.7728	0.01027	0.3007:0.1087:0.3432:0.2474	.	622;67;622;591;590	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	N	591;622;591;590;591;622	ENSP00000232458:S591N;ENSP00000376457:S622N;ENSP00000401910:S591N;ENSP00000415876:S590N;ENSP00000412259:S591N;ENSP00000443160:S622N	ENSP00000232458:S591N	S	+	2	0	ECT2	173987016	0.832000	0.29368	1.000000	0.80357	0.992000	0.81027	0.481000	0.22260	0.432000	0.26286	-0.145000	0.13849	AGC		0.308	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		21	119	0	0	0	1	0	21	119					A	172504322	G	A	172504322	3	1	79	1	0	0	0	0	1	0	0	0	4917	971	34	2	1834	2	ECT2	3	172504322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138563	172504322	25518108	4836	15153											
ECT2	1894	broad.mit.edu	37	chr3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccaaacccgacccccaGcttctcttaagcatattcac	5	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000392692.3	+	21	2349	c.2173G>A	c.(2173-2175)Gct>Act	p.A725T	ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000417960.1_Missense_Mutation_p.A693T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	725	PH.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGACCCCCAGCTTCTCTTAA	0.403																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2077-2079)Gct>Act		epithelial cell transforming sequence 2 oncogene							63	65	65					3																	172523587		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172523587G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2173G>A	3.37:g.172523587G>A	ENSP00000376457:p.Ala725Thr					ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000392692.3_Missense_Mutation_p.A725T	p.A693T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		21	2554	+	Ovarian(172;0.00197)|Breast(254;0.158)		694			PH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2077G>A	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695041|3.695041	0.68386|0.68386	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54;1.54|.	6.06|6.06	4.28|4.28	0.50868|0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.145083|.	0.64402|.	D|.	0.000008|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	B;B;P;B;B|.	0.36412|.	0.381;0.027;0.552;0.397;0.214|.	B;B;B;B;B|.	0.43990|.	0.103;0.012;0.438;0.199;0.113|.	T|T	0.55270|0.55270	-0.8167|-0.8167	10|5	0.20519|.	T|.	0.43|.	-11.4381|-11.4381	13.062|13.062	0.59012|0.59012	0.0:0.1294:0.747:0.1236|0.0:0.1294:0.747:0.1236	.|.	725;170;725;694;693|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	T|N	694;725;694;693;694;725|64	ENSP00000232458:A694T;ENSP00000376457:A725T;ENSP00000401910:A694T;ENSP00000415876:A693T;ENSP00000412259:A694T;ENSP00000443160:A725T|.	ENSP00000232458:A694T|.	A|S	+|+	1|2	0|0	ECT2|ECT2	174006281|174006281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	3.275000|3.275000	0.51639|0.51639	0.888000|0.888000	0.36160|0.36160	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.403	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		46	194	0	0	0	1	0	46	194					A	172523587	G	A	172523587	3	1	79	1	0	0	0	0	1	0	0	0	4917	971	34	2	2154	2	ECT2	3	172523587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19265	172523587	25498843	4837	15154											
NLGN1	22871	broad.mit.edu	37	chr3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccataggactttttcaacGagcaatagctcaaagtggaa	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					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)			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)			CTTTTTCAACGAGCAATAGCT	0.358																																						ENST00000457714.1																			0				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						c.(871-873)cGa>cAa		neuroligin 1							50	51	51					3																	173996663		2202	4299	6501	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.chr3:173996663G>A	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.872G>A	3.37:g.173996663G>A	ENSP00000392500:p.Arg291Gln					NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q	p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1301	+	Ovarian(172;0.0025)		308					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.872G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751325	0.89753	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71698	0.01;0.01;-0.59;0.01;0.01	5.59	5.59	0.84812	.	0.059259	0.64402	D	0.000004	D	0.84786	0.5549	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.955;0.964	D	0.85471	0.1173	10	0.66056	D	0.02	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	331;291	D2X2H5;Q8N2Q7-2	.;.	Q	291;291;331;291;331	ENSP00000392500:R291Q;ENSP00000354541:R291Q;ENSP00000410374:R331Q;ENSP00000441108:R291Q;ENSP00000385750:R331Q	ENSP00000354541:R291Q	R	+	2	0	NLGN1	175479357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGA		0.358	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		43	236	0	0	0	1	0	43	236					A	173996663	G	A	173996663	3	1	79	1	0	0	0	0	1	0	0	0	10503	1058	37	1	886	1	NLGN1	3	173996663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473076	173996663	24025767	4838	15155											
NLGN1	22871	broad.mit.edu	37	chr3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatatagtagatagcgAtgatggtatatcagctagtg	11	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	420					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)			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)			GTAGATAGCGATGATGGTATA	0.333																																						ENST00000457714.1																			0				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						c.(1207-1209)gAt>gGt		neuroligin 1							122	130	128					3																	173996999		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.chr3:173996999A>G	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.1208A>G	3.37:g.173996999A>G	ENSP00000392500:p.Asp403Gly					NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G	p.D403G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1637	+	Ovarian(172;0.0025)		420					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1208A>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811455	0.50527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	.	0.106713	0.64402	D	0.000006	T	0.55784	0.1942	N	0.21545	0.675	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.54111	-0.8342	10	0.72032	D	0.01	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	443;403	D2X2H5;Q8N2Q7-2	.;.	G	403;403;403;443	ENSP00000392500:D403G;ENSP00000354541:D403G;ENSP00000441108:D403G;ENSP00000385750:D443G	ENSP00000354541:D403G	D	+	2	0	NLGN1	175479693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT		0.333	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		87	399	0	0	0	1	0	87	399					G	173996999	A	G	173996999	3	3	79	1	0	0	0	0	1	0	0	0	10503	333	12	4	1222	4	NLGN1	3	173996999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	173996999	24025431	4839	15156											
NLGN1	22871	broad.mit.edu	37	chr3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagaagaaagacattaCtggctttgtttacggaccat	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					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)			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)			AAAGACATTACTGGCTTTGTT	0.448																																						ENST00000457714.1																			0				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						c.(1369-1371)Ctg>Atg		neuroligin 1							101	97	99					3																	173997160		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.chr3:173997160C>A	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.1369C>A	3.37:g.173997160C>A	ENSP00000392500:p.Leu457Met					NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M|NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M	p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1798	+	Ovarian(172;0.0025)		474					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1369C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568022	0.28003	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.28458	0.855	0.52501	D	0.99995	P;P	0.36712	0.566;0.516	B;B	0.44163	0.403;0.443	T	0.53012	-0.8498	10	0.44086	T	0.13	.	9.8156	0.40851	0.0:0.2601:0.0:0.7399	.	497;457	D2X2H5;Q8N2Q7-2	.;.	M	457;457;457;497	ENSP00000392500:L457M;ENSP00000354541:L457M;ENSP00000441108:L457M;ENSP00000385750:L497M	ENSP00000354541:L457M	L	+	1	2	NLGN1	175479854	0.479000	0.25925	0.985000	0.45067	0.984000	0.73092	0.071000	0.14594	0.164000	0.19529	-0.360000	0.07572	CTG		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		90	397	1	0	1.80454e-33	1	2.13885e-33	90	397					A	173997160	C	A	173997160	3	1	79	1	0	0	0	0	1	0	0	0	10503	564	20	3	1383	3	NLGN1	3	173997160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	173997160	24025270	4840	15157											
NLGN1	22871	broad.mit.edu	37	chr3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatgaggtggttcttcGgaccgcctgtcccccagatt	10	14	1	2	rs527860138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					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.R755Q(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)			GTGGTTCTTCGGACCGCCTGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.001					ENST00000457714.1																			1	Substitution - Missense(1)	p.R755Q(1)	large_intestine(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						c.(2263-2265)cGg>cAg		neuroligin 1							175	151	159					3																	173998885		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.chr3:173998885G>A	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.2264G>A	3.37:g.173998885G>A	ENSP00000392500:p.Arg755Gln					NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q	p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2693	+	Ovarian(172;0.0025)		772					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2264G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	NLGN1	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		71	323	0	0	0	1	0	71	323					A	173998885	G	A	173998885	3	1	79	1	0	0	0	0	1	0	0	0	10503	1116	39	1	2282	1	NLGN1	3	173998885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	173998885	24023545	4841	15158											
NAALADL2	254827	broad.mit.edu	37	chr3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacattacccattatacacGatctgcaccaaagagcaatc	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	112						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(334-336)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase-like 2							82	82	82					3																	174814871		1868	4104	5972	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814871G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.335G>A	3.37:g.174814871G>A	ENSP00000404705:p.Arg112Gln					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.R112Q	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	463	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	112					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.335G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357573	0.61293	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.49720	0.77;1.26	5.72	5.72	0.89469	.	0.127766	0.34156	N	0.004212	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	T	0.51148	-0.8742	10	0.59425	D	0.04	-24.494	13.4601	0.61223	0.0716:0.0:0.9284:0.0	.	95;112	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Q	95;112	ENSP00000409858:R95Q;ENSP00000404705:R112Q	ENSP00000409858:R95Q	R	+	2	0	NAALADL2	176297565	0.996000	0.38824	0.971000	0.41717	0.897000	0.52465	5.814000	0.69208	2.850000	0.98022	0.650000	0.86243	CGA		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		92	343	0	0	0	1	0	92	343					A	174814871	G	A	174814871	3	1	79	1	0	0	0	0	1	0	0	0	10171	1058	37	1	341	1	NAALADL2	3	174814871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815986	174814871	23207559	4842	15159											
NAALADL2	254827	broad.mit.edu	37	chr3	175165072	175165072	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctctattagtgcagcccatCtctgcacccctcgttgcaaa	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	382						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCAGCCCATCTCTGCACCCC	0.388																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1144-1146)atC>atA		N-acetylated alpha-linked acidic dipeptidase-like 2							76	71	73					3																	175165072		1877	4124	6001	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165072C>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1146C>A	3.37:g.175165072C>A						NAALADL2_ENST00000473253.1_3'UTR	p.I382I	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1274	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	382					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1146C>A	CCDS46960.1																																																																																				0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		9	51	1	0	0.00829132	1	0.00834067	9	51					A	175165072	C	A	175165072	2	1	79	1	0	0	0	0	0	0	0	1	10171	903	32	3		3	NAALADL2	3	175165072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350201	175165072	22857358	4843	15160											
ZMAT3	64393	broad.mit.edu	37	chr3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgctgcatagtaatttCggagtttcttaccatgattt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.438																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(295-297)cGa>cAa		zinc finger, matrin-type 3							119	112	114					3																	178748762		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178748762C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.296G>A	3.37:g.178748762C>T	ENSP00000311221:p.Arg99Gln					ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	p.R99Q	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		3	1037	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		99						Missense_Mutation	SNP	ENST00000311417.2	37	c.296G>A	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598322	0.96614	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.47177	0.85;0.85;0.85	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.62048	-0.6936	10	0.56958	D	0.05	-13.3478	19.3366	0.94322	0.0:1.0:0.0:0.0	.	99;99	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	Q	99	ENSP00000311221:R99Q;ENSP00000396506:R99Q;ENSP00000398920:R99Q	ENSP00000311221:R99Q	R	-	2	0	ZMAT3	180231456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.773000	0.62331	2.551000	0.86045	0.650000	0.86243	CGA		0.438	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		63	330	0	0	0	1	0	63	330					T	178748762	C	T	178748762	3	4	79	1	0	0	0	0	1	0	0	0	17746	884	31	1	589	1	ZMAT3	3	178748762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3583690	178748762	19273668	4844	15161											
ZMAT3	64393	broad.mit.edu	37	chr3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcttctgtggtggaagCtgcaaggttcctgtagacct	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTGGTGGAAGCTGCAAGGTTC	0.582																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(94-96)caG>caT		zinc finger, matrin-type 3							132	129	130					3																	178785445		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785445C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.96G>T	3.37:g.178785445C>A	ENSP00000311221:p.Gln32His					ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	p.Q32H	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	837	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		32						Missense_Mutation	SNP	ENST00000311417.2	37	c.96G>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623280	0.46840	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.48201	0.93;0.92;0.82	5.86	4.99	0.66335	.	0.693387	0.14830	N	0.295886	T	0.30885	0.0779	N	0.14661	0.345	0.37288	D	0.908141	P;P	0.42649	0.786;0.681	B;B	0.40066	0.318;0.169	T	0.16630	-1.0396	10	0.32370	T	0.25	-19.4788	9.7286	0.40348	0.0:0.8038:0.0:0.1962	.	32;32	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	H	32	ENSP00000311221:Q32H;ENSP00000396506:Q32H;ENSP00000398920:Q32H	ENSP00000311221:Q32H	Q	-	3	2	ZMAT3	180268139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.452000	0.35156	1.481000	0.48307	0.563000	0.77884	CAG		0.582	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		123	532	1	0	5.18985e-55	1	6.48364e-55	123	532					A	178785445	C	A	178785445	3	1	79	1	0	0	0	0	1	0	0	0	17746	796	28	3	793	3	ZMAT3	3	178785445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36683	178785445	19236985	4845	15162											
ZMAT3	64393	broad.mit.edu	37	chr3	178785487	178785487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccactgacataggaggCgagggtgagggctgcttagg	19	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.S18S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572																																						ENST00000311417.2																			1	Substitution - coding silent(1)	p.S18S(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(52-54)tcG>tcA		zinc finger, matrin-type 3							140	143	142					3																	178785487		2203	4300	6503	SO:0001819	synonymous_variant	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785487C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.54G>A	3.37:g.178785487C>T						ZMAT3_ENST00000432729.1_Silent_p.S18S	p.S18S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	795	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		18						Silent	SNP	ENST00000311417.2	37	c.54G>A	CCDS3224.1																																																																																				0.572	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		147	602	0	0	0	1	0	147	602					T	178785487	C	T	178785487	2	4	79	1	0	0	0	0	0	0	0	1	17746	755	27	1		1	ZMAT3	3	178785487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	178785487	19236943	4846	15163											
ZNF639	51193	broad.mit.edu	37	chr3	179051598	179051598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcacattgcagacacCcattttagtgatcacctcta	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	282					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)			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)			TTGCAGACACCCATTTTAGTG	0.418																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(844-846)acC>acT		zinc finger protein 639							131	125	127					3																	179051598		2203	4300	6503	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.chr3:179051598C>T	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.846C>T	3.37:g.179051598C>T						ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1291	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		282					A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	37	c.846C>T	CCDS3227.1																																																																																				0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		74	419	0	0	0	1	0	74	419					T	179051598	C	T	179051598	2	4	79	1	0	0	0	0	0	0	0	1	18109	610	22	2		2	ZNF639	3	179051598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266111	179051598	18970832	4847	15164											
MFN1	55669	broad.mit.edu	37	chr3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggagacacatgaaggtgGcattttttggcaggtaatta	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(235-237)Gca>Aca		mitofusin 1							148	154	152					3																	179069810		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069810G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.235G>A	3.37:g.179069810G>A	ENSP00000420617:p.Ala79Thr					MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	361	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		79					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.235G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		138	702	0	0	0	1	0	138	702					A	179069810	G	A	179069810	3	1	79	1	0	0	0	0	1	0	0	0	9564	1203	42	2	241	2	MFN1	3	179069810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18212	179069810	18952620	4848	15165											
MFN1	55669	broad.mit.edu	37	chr3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaattgcttcctaagtGttgaaggaactgatggagat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	115	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCTAAGTGTTGAAGGAAC	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(343-345)Gtt>Att		mitofusin 1							155	143	147					3																	179076722		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076722G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.343G>A	3.37:g.179076722G>A	ENSP00000420617:p.Val115Ile					MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	p.V115I	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	469	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		115					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.343G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518764	0.85495	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.962;0.998	D	0.96458	0.9339	10	0.31617	T	0.26	-21.6062	20.5632	0.99335	0.0:0.0:1.0:0.0	.	143;115	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	115	ENSP00000420617:V115I;ENSP00000280653:V115I;ENSP00000419134:V115I;ENSP00000263969:V115I	ENSP00000263969:V115I	V	+	1	0	MFN1	180559416	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GTT		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		75	323	0	0	0	1	0	75	323					A	179076722	G	A	179076722	3	1	79	1	0	0	0	0	1	0	0	0	9564	1377	48	2	353	2	MFN1	3	179076722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6912	179076722	18945708	4849	15166											
MFN1	55669	broad.mit.edu	37	chr3	179076766	179076766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatcttatgacagaaggAtcagatgaaaaaaagagtgt	10	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACAGAAGGATCAGATGAAA	0.343																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(385-387)ggA>ggG		mitofusin 1							130	121	124					3																	179076766		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076766A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.387A>G	3.37:g.179076766A>G						MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	p.G129G	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	513	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		129					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.387A>G	CCDS3228.1																																																																																				0.343	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		64	269	0	0	0	1	0	64	269					G	179076766	A	G	179076766	2	3	79	1	0	0	0	0	0	0	0	1	9564	320	12	4		4	MFN1	3	179076766	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	179076766	18945664	4850	15167											
GNB4	59345	broad.mit.edu	37	chr3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaagtcatcgtaaccaGccaacaagagacgcccactt	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	287					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.(859-861)gCt>gTt		guanine nucleotide binding protein (G protein), beta polypeptide 4							116	108	110					3																	179123034		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179123034G>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"WD repeat domain containing"	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.860C>T	3.37:g.179123034G>A	ENSP00000232564:p.Ala287Val					GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		9	1146	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		287					B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.860C>T	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497553	0.96355	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.59906	0.23;0.23	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094329	0.64402	N	0.000001	T	0.75686	0.3883	M	0.85041	2.73	0.80722	D	1	D	0.58620	0.983	P	0.55545	0.778	T	0.79722	-0.1684	10	0.66056	D	0.02	-28.153	19.5074	0.95125	0.0:0.0:1.0:0.0	.	287	Q9HAV0	GBB4_HUMAN	V	287	ENSP00000232564:A287V;ENSP00000419693:A287V	ENSP00000232564:A287V	A	-	2	0	GNB4	180605728	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.721000	0.98766	2.678000	0.91216	0.655000	0.94253	GCT		0.403	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		82	382	0	0	0	1	0	82	382					A	179123034	G	A	179123034	3	1	79	1	0	0	0	0	1	0	0	0	6549	971	34	2	170	2	GNB4	3	179123034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46268	179123034	18899396	4851	15168											
MRPL47	57129	broad.mit.edu	37	chr3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaatctctgccgcttgGcctcctgctctagggttaga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V|MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	119					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGCCGCTTGGCCTCCTGCTC	0.428																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(355-357)gCc>gTc		mitochondrial ribosomal protein L47							144	134	138					3																	179316509		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179316509G>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.356C>T	3.37:g.179316509G>A	ENSP00000417602:p.Ala119Val					MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	p.A119V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	385	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		119					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.356C>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257331	0.95368	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46451	1.39;1.41;0.87	6.17	6.17	0.99709	.	0.178216	0.48286	D	0.000191	T	0.63873	0.2548	M	0.66439	2.03	0.44562	D	0.997529	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.52185	-0.8609	10	0.20046	T	0.44	-12.1073	20.4745	0.99168	0.0:0.0:1.0:0.0	.	99;119	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	119;99;9	ENSP00000417602:A119V;ENSP00000259038:A99V;ENSP00000376427:A9V	ENSP00000259038:A99V	A	-	2	0	MRPL47	180799203	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	GCC		0.428	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		86	349	0	0	0	1	0	86	349					A	179316509	G	A	179316509	3	1	79	1	0	0	0	0	1	0	0	0	9852	1203	42	2	412	2	MRPL47	3	179316509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193475	179316509	18705921	4852	15169											
MRPL47	57129	broad.mit.edu	37	chr3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatccaagtatctcaccaGattttactttttcttgcccc	3	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|NDUFB5_ENST00000259037.3_5'Flank|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	81					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TATCTCACCAGATTTTACTTT	0.398																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(241-243)tCt>tAt		mitochondrial ribosomal protein L47							66	70	69					3																	179320442		2203	4299	6502	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320442G>T	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.242C>A	3.37:g.179320442G>T	ENSP00000417602:p.Ser81Tyr					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	p.S81Y	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	271	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		81					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.242C>A	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872083	0.72180	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.42	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.41415	1.275	0.80722	D	1	D;D	0.61080	0.966;0.989	P;D	0.69307	0.831;0.963	T	0.22730	-1.0208	10	0.02654	T	1	-23.0982	17.9188	0.88960	0.0:0.0:1.0:0.0	.	61;81	Q9HD33-2;Q9HD33	.;RM47_HUMAN	Y	81;61	ENSP00000417602:S81Y;ENSP00000259038:S61Y	ENSP00000259038:S61Y	S	-	2	0	MRPL47	180803136	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.879000	0.75572	2.511000	0.84671	0.650000	0.86243	TCT		0.398	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		71	276	1	0	9.12251e-31	1	1.07152e-30	71	276					T	179320442	G	T	179320442	3	4	79	1	0	0	0	0	1	0	0	0	9852	942	33	3	534	3	MRPL47	3	179320442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3933	179320442	18701988	4853	15170											
NDUFB5	4711	broad.mit.edu	37	chr3	179336307	179336307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgaaaaggctgaattAcggtaggaaaaacgaggggg	16	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000259037.3	+	5	561	c.447A>G	c.(445-447)ttA>ttG	p.L149L	NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000493866.1_Silent_p.L97L|NDUFB5_ENST00000473500.1_3'UTR	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	149					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			AGGCTGAATTACGGTAGGAAA	0.378																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(289-291)ttA>ttG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						55	56	56					3																	179336307		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179336307A>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.447A>G	3.37:g.179336307A>G						NDUFB5_ENST00000259037.3_Silent_p.L149L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.L137L	p.L97L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		3	316	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		149					Q561V6	Silent	SNP	ENST00000259037.3	37	c.291A>G	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557860	0.45590	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.97	4.84	0.62591	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	-13.992	5.3624	0.16095	0.7091:0.1802:0.1107:0.0	.	.	.	.	C	166	.	.	Y	+	2	0	NDUFB5	180819001	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.831000	0.39141	2.284000	0.76573	0.523000	0.50628	TAC		0.378	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		29	130	0	0	0	1	0	29	130					G	179336307	A	G	179336307	2	3	79	1	0	0	0	0	0	0	0	1	10326	388	14	4		4	NDUFB5	3	179336307	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15865	179336307	18686123	4854	15171											
USP13	8975	broad.mit.edu	37	chr3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcctctgtttttggtgcttCtggactggataaccaacctc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(2164-2166)tCt>tAt		ubiquitin specific peptidase 13 (isopeptidase T-3)							121	107	112					3																	179481862		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179481862C>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2165C>A	3.37:g.179481862C>A	ENSP00000263966:p.Ser722Tyr					USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	p.S722Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		18	2636	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		722					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.2165C>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455376	0.63401	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16196	2.36;2.36	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.10508	0.0257	N	0.14661	0.345	0.27348	N	0.95632	P	0.35527	0.507	B	0.40038	0.317	T	0.09818	-1.0657	10	0.62326	D	0.03	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	Y	722;657	ENSP00000263966:S722Y;ENSP00000417146:S657Y	ENSP00000263966:S722Y	S	+	2	0	USP13	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT		0.502	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			77	348	1	0	4.41824e-40	1	5.35239e-40	77	348					A	179481862	C	A	179481862	3	1	79	1	0	0	0	0	1	0	0	0	17098	913	32	3	2235	3	USP13	3	179481862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145555	179481862	18540568	4855	15172											
USP13	8975	broad.mit.edu	37	chr3	179499528	179499528	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttcctctttcacagcAtatgagctatttgcattcat	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	805	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCACAGCATATGAGCTAT	0.378																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.e20-1		ubiquitin specific peptidase 13 (isopeptidase T-3)							126	109	115					3																	179499528		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179499528A>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2414-1A>G	3.37:g.179499528A>G						USP13_ENST00000496897.1_Splice_Site_p.T740_splice	p.T805_splice	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		20	2886	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		805					A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	37	c.2413_splice	CCDS3235.1																																																																																				0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Silent	57	252	0	0	0	1	0	57	252					G	179499528	A	G	179499528	5	3	79	1	0	0	0	0	0	0	1	0	17098	231	8	4	2493	4	USP13	3	179499528	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17666	179499528	18522902	4856	15173											
PEX5L	51555	broad.mit.edu	37	chr3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcttattcctaggttgtatCtggaccggatgaatcctggc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	545					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1633-1635)aGa>aTa		peroxisomal biogenesis factor 5-like							177	173	174					3																	179525504		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525504C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1634G>T	3.37:g.179525504C>A	ENSP00000419975:p.Arg545Ile					PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000467440.2_5'UTR	p.R545I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1964	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		545					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1634G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.94;0.913;0.964	T	0.77429	-0.2591	10	0.87932	D	0	-21.9465	20.6525	0.99598	0.0:1.0:0.0:0.0	.	486;521;437;543;510;545	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	545;543;510;543;437;353;502;433;486;437;521	ENSP00000419975:R545I;ENSP00000263962:R543I;ENSP00000418440:R510I;ENSP00000376420:R437I;ENSP00000418665:R353I;ENSP00000420555:R502I;ENSP00000418054:R486I;ENSP00000417270:R437I;ENSP00000419348:R521I	ENSP00000263962:R543I	R	-	2	0	PEX5L	181008198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	AGA		0.577	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		231	893	1	0	6.04794e-90	1	7.76205e-90	231	893					A	179525504	C	A	179525504	3	1	79	1	0	0	0	0	1	0	0	0	11791	913	32	3	254	3	PEX5L	3	179525504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25976	179525504	18496926	4857	15174											
PEX5L	51555	broad.mit.edu	37	chr3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctccactgctgcttttGccctttcaaactcttcttct	3	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	269					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(805-807)gCa>gTa		peroxisomal biogenesis factor 5-like							143	142	142					3																	179576866		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576866G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.806C>T	3.37:g.179576866G>A	ENSP00000419975:p.Ala269Val					PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V|PEX5L_ENST00000467440.2_5'UTR	p.A269V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	1136	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		269					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.806C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875930	0.91664	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.46;-2.4;-2.44;-2.47;-2.47;-2.4;-2.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	L	0.57536	1.79	0.80722	D	1	D;D;P;D;D;D	0.89917	0.993;0.999;0.884;1.0;0.999;0.999	D;D;P;D;D;D	0.85130	0.968;0.986;0.54;0.997;0.996;0.994	D	0.92940	0.6371	10	0.51188	T	0.08	-17.3417	18.8213	0.92099	0.0:0.0:1.0:0.0	.	210;245;161;267;234;269	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	269;267;234;267;161;77;226;157;210;161;245	ENSP00000419975:A269V;ENSP00000263962:A267V;ENSP00000418440:A234V;ENSP00000376420:A161V;ENSP00000418665:A77V;ENSP00000420555:A226V;ENSP00000418054:A210V;ENSP00000417270:A161V;ENSP00000419348:A245V	ENSP00000263962:A267V	A	-	2	0	PEX5L	181059560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	GCA		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		37	239	0	0	0	1	0	37	239					A	179576866	G	A	179576866	3	1	79	1	0	0	0	0	1	0	0	0	11791	1319	46	2	1106	2	PEX5L	3	179576866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51362	179576866	18445564	4858	15175											
PEX5L	51555	broad.mit.edu	37	chr3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactaattccaattctgaaGccgactcagagttgagggcg	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(694-696)gCt>gTt		peroxisomal biogenesis factor 5-like							103	101	101					3																	179592146		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592146G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.695C>T	3.37:g.179592146G>A	ENSP00000419975:p.Ala232Val					PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000467440.2_5'UTR	p.A232V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1025	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		232					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.695C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	PEX5L	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		62	239	0	0	0	1	0	62	239					A	179592146	G	A	179592146	3	1	79	1	0	0	0	0	1	0	0	0	11791	971	34	2	1221	2	PEX5L	3	179592146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15280	179592146	18430284	4859	15176											
TTC14	151613	broad.mit.edu	37	chr3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gataggttacagtatgaaaaGacacagataaaagagaaaga	10	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	568							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTATGAAAAGACACAGATAA	0.388																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1702-1704)aaG>aaT		tetratricopeptide repeat domain 14							130	148	142					3																	180327721		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180327721G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1704G>T	3.37:g.180327721G>T	ENSP00000296015:p.Lys568Asn					TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	p.K568N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1836	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		568					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1704G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385450	0.11524	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.47869	0.83;0.83	5.19	1.29	0.21616	.	0.293840	0.38272	N	0.001747	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.03619	-1.1019	10	0.40728	T	0.16	-7.3015	6.0769	0.19921	0.296:0.0:0.5781:0.1259	.	568;568	Q96N46-2;Q96N46	.;TTC14_HUMAN	N	568	ENSP00000296015:K568N;ENSP00000372027:K568N	ENSP00000296015:K568N	K	+	3	2	TTC14	181810415	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	1.534000	0.36051	0.100000	0.17581	-0.136000	0.14681	AAG		0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		198	826	1	0	2.5812e-89	1	3.31226e-89	198	826					T	180327721	G	T	180327721	3	4	79	1	0	0	0	0	1	0	0	0	16735	933	33	3	1780	3	TTC14	3	180327721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735575	180327721	17694709	4860	15177											
FXR1	8087	broad.mit.edu	37	chr3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaatagtcacatttgaaCgacttcggcctgtcaatcaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	111	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(331-333)Cga>Tga		fragile X mental retardation, autosomal homolog 1							51	53	53					3																	180666195		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666195C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.331C>T	3.37:g.180666195C>T	ENSP00000350170:p.Arg111*					FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*	p.R111*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	715	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		111					A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	SNP	ENST00000357559.4	37	c.331C>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	38	6.876758	0.97904	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	.	.	.	5.84	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4776	15.6882	0.77426	0.4626:0.5374:0.0:0.0	.	.	.	.	X	26;26;26;111;26;62;26;111;26;98;115	.	ENSP00000307633:R26X	R	+	1	2	FXR1	182148889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.668000	0.46816	0.761000	0.33130	0.650000	0.86243	CGA		0.338	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			41	213	0	0	0	1	0	41	213					T	180666195	C	T	180666195	4	4	79	1	0	0	0	0	0	1	0	0	6142	528	19	1	349	1	FXR1	3	180666195	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338474	180666195	17356235	4861	15178											
DNAJC19	131118	broad.mit.edu	37	chr3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaactgctaccactgtacTggcctggtaagggggagaag	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G|DNAJC19_ENST00000491873.1_Intron	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	3					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(7-9)Agt>Ggt		DnaJ (Hsp40) homolog, subfamily C, member 19							76	73	74					3																	180706014		2203	4300	6503	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180706014T>C		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.7A>G	3.37:g.180706014T>C	ENSP00000372005:p.Ser3Gly					DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G	p.S3G	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		2	177	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		3					B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.7A>G	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478437	0.44044	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	4.2	0.49525	.	0.162599	0.64402	N	0.000003	T	0.45013	0.1321	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.32370	T	0.25	-1.0867	8.4651	0.32951	0.0:0.0942:0.0:0.9058	.	3	Q96DA6	TIM14_HUMAN	G	3	.	ENSP00000372005:S3G	S	-	1	0	DNAJC19	182188708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.615000	0.46368	0.976000	0.38417	0.533000	0.62120	AGT		0.448	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		34	144	0	0	0	1	0	34	144					C	180706014	T	C	180706014	3	2	79	1	0	0	0	0	1	0	0	0	4654	1580	55	4	363	4	DNAJC19	3	180706014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39819	180706014	17316416	4862	15179											
SOX2	6657	broad.mit.edu	37	chr3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttacctcttcctcccactCcagggcgccctgccaggccg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	261					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"NSCLC, oesophageal squamous carcinoma"		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(781-783)tCc>tTc		SRY (sex determining region Y)-box 2							45	40	42					3																	181430930		2199	4292	6491	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430930C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.782C>T	3.37:g.181430930C>T	ENSP00000323588:p.Ser261Phe					SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1209	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		261					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.782C>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738824	0.49045	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85339	-1.97;-1.97	5.5	5.5	0.81552	.	0.185050	0.48767	D	0.000174	D	0.83797	0.5332	L	0.49126	1.545	0.58432	D	0.999999	P	0.41159	0.74	B	0.39738	0.308	D	0.85853	0.1405	10	0.87932	D	0	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	261	P48431	SOX2_HUMAN	F	261	ENSP00000439111:S261F;ENSP00000323588:S261F	ENSP00000323588:S261F	S	+	2	0	SOX2	182913624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.457000	0.60088	2.735000	0.93741	0.655000	0.94253	TCC		0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		76	374	0	0	0	1	0	76	374					T	181430930	C	T	181430930	3	4	79	1	0	0	0	0	1	0	0	0	14999	855	30	2	784	2	SOX2	3	181430930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724916	181430930	16591500	4863	15180											
ATP11B	23200	broad.mit.edu	37	chr3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttggatcaaccatctcGttacctggggatctattata	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1031					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)			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)			CAACCATCTCGTTACCTGGGG	0.303																																						ENST00000323116.5																			0				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						c.(3091-3093)Gtt>Att		ATPase, class VI, type 11B							131	147	141					3																	182615133		2203	4294	6497	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.chr3:182615133G>A	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.3091G>A	3.37:g.182615133G>A	ENSP00000321195:p.Val1031Ile						p.V1031I	NM_014616.2	NP_055431.1	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)		27	3351	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1031					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3091G>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145252|5.145252	0.94603|0.94603	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000491699|ENST00000323116	.|T	.|0.39406	.|1.08	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.755	.|D;B	.|0.75020	.|0.985;0.312	T|T	0.58352|0.58352	-0.7651|-0.7651	5|10	.|0.52906	.|T	.|0.07	.|.	19.663|19.663	0.95879|0.95879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|605;1031	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	H|I	15|1031	.|ENSP00000321195:V1031I	.|ENSP00000321195:V1031I	R|V	+|+	2|1	0|0	ATP11B|ATP11B	184097827|184097827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.348000|9.348000	0.97062|0.97062	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.303	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		174	836	0	0	0	1	0	174	836					A	182615133	G	A	182615133	3	1	79	1	0	0	0	0	1	0	0	0	1121	1145	40	1	3197	1	ATP11B	3	182615133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184203	182615133	15407297	4864	15181											
MCCC1	56922	broad.mit.edu	37	chr3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagactctttggctgcagcCttccgactgagcaacaactg	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000265594.4	-	13	1649	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000492597.1_Missense_Mutation_p.K392N	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	501					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1174-1176)aaG>aaT		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127	111	116					3																	182755097		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182755097C>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1503G>T	3.37:g.182755097C>A	ENSP00000265594:p.Lys501Asn					MCCC1_ENST00000265594.4_Missense_Mutation_p.K501N|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N	p.K392N			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		12	1878	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		501			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.1176G>T	CCDS3241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.767|4.767	0.142627|0.142627	0.09083|0.09083	.|.	.|.	ENSG00000078070|ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176|ENST00000448585	D;D;D;D|.	0.95622|.	-3.76;-3.7;-3.58;-3.52|.	5.93|5.93	0.553|0.553	0.17235|0.17235	.|.	0.499217|.	0.25487|.	N|.	0.030329|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30584|.	0.259;0.164;0.286|.	B;B;B|.	0.27608|.	0.081;0.052;0.067|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|6	0.22109|0.51188	T|T	0.4|0.08	.|.	1.9389|1.9389	0.03342|0.03342	0.1317:0.4086:0.1216:0.3381|0.1317:0.4086:0.1216:0.3381	.|.	454;392;501|.	E9PG35;E9PHF7;Q96RQ3|.	.;.;MCCA_HUMAN|.	N|M	501;392;351;366;454|454	ENSP00000265594:K501N;ENSP00000419898:K392N;ENSP00000441253:K366N;ENSP00000420433:K454N|.	ENSP00000265594:K501N|ENSP00000407708:R454M	K|R	-|-	3|2	2|0	MCCC1|MCCC1	184237791|184237791	0.001000|0.001000	0.12720|0.12720	0.209000|0.209000	0.23619|0.23619	0.199000|0.199000	0.23934|0.23934	0.283000|0.283000	0.18846|0.18846	0.398000|0.398000	0.25338|0.25338	0.561000|0.561000	0.74099|0.74099	AAG|AGG		0.512	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		85	242	1	0	1.4051e-37	1	1.68838e-37	85	242					A	182755097	C	A	182755097	3	1	79	1	0	0	0	0	1	0	0	0	9415	680	24	3	702	3	MCCC1	3	182755097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139964	182755097	15267333	4865	15182											
MCCC1	56922	broad.mit.edu	37	chr3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcctcactataaaccGccacagtctgtacacccagt	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	77	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423																																						ENST00000265594.4																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(229-231)gCg>gTg		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127	106	113					3																	182810240		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182810240G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.230C>T	3.37:g.182810240G>A	ENSP00000265594:p.Ala77Val					MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	p.A77V	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		3	376	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		77			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.230C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000078070	ENST00000265594	D	0.94497	-3.44	5.86	5.86	0.93980	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98043	1.0383	10	0.87932	D	0	.	18.9487	0.92632	0.0:0.0:1.0:0.0	.	77	Q96RQ3	MCCA_HUMAN	V	77	ENSP00000265594:A77V	ENSP00000265594:A77V	A	-	2	0	MCCC1	184292934	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	9.064000	0.93933	2.778000	0.95560	0.655000	0.94253	GCG		0.423	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		78	299	0	0	0	1	0	78	299					A	182810240	G	A	182810240	3	1	79	1	0	0	0	0	1	0	0	0	9415	1087	38	1	2015	1	MCCC1	3	182810240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55143	182810240	15212190	4866	15183											
KLHL6	89857	broad.mit.edu	37	chr3	183209999	183209999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggctgtaggcgtacaGcgctctcatggccccacctg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	528					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1582-1584)Ctg>Ttg		kelch-like family member 6							19	19	19					3																	183209999		2201	4299	6500	SO:0001819	synonymous_variant	89857							g.chr3:183209999G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1582C>T	3.37:g.183209999G>A							p.L528L	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1617	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		528					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1582C>T	CCDS3245.2																																																																																				0.582	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		36	154	0	0	0	1	0	36	154					A	183209999	G	A	183209999	2	1	79	1	0	0	0	0	0	0	0	1	8423	962	34	2		2	KLHL6	3	183209999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399759	183209999	14812431	4867	15184											
KLHL6	89857	broad.mit.edu	37	chr3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagggtcataacactgagtCttgtctgtggccagtttccc	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	485					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1453-1455)aaG>aaT		kelch-like family member 6							217	171	187					3																	183210391		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183210391C>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1455G>T	3.37:g.183210391C>A	ENSP00000341342:p.Lys485Asn						p.K485N	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1490	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		485					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1455G>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510440	0.44660	.	.	ENSG00000172578	ENST00000341319	T	0.79554	-1.28	4.88	2.02	0.26589	Kelch-type beta propeller (1);	0.248378	0.46145	D	0.000308	T	0.70552	0.3237	L	0.28344	0.845	0.40751	D	0.982917	P	0.40909	0.732	P	0.46585	0.521	T	0.67094	-0.5757	10	0.56958	D	0.05	.	4.2404	0.10645	0.1559:0.5404:0.0:0.3037	.	485	Q8WZ60	KLHL6_HUMAN	N	485	ENSP00000341342:K485N	ENSP00000341342:K485N	K	-	3	2	KLHL6	184693085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.874000	0.28065	0.560000	0.29169	0.591000	0.81541	AAG		0.542	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		54	289	1	0	2.24059e-37	1	2.69063e-37	54	289					A	183210391	C	A	183210391	3	1	79	1	0	0	0	0	1	0	0	0	8423	912	32	3	418	3	KLHL6	3	183210391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392	183210391	14812039	4868	15185											
KLHL6	89857	broad.mit.edu	37	chr3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcgcacgttctcgaggAcataggggagtaagcagagt	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	257	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(769-771)gTc>gCc		kelch-like family member 6							158	142	147					3																	183225986		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183225986A>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.770T>C	3.37:g.183225986A>G	ENSP00000341342:p.Val257Ala						p.V257A	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	805	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		257			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.770T>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684303	0.68157	.	.	ENSG00000172578	ENST00000341319	T	0.71934	-0.61	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.625119	0.17099	N	0.187080	T	0.68751	0.3035	L	0.48877	1.53	0.22975	N	0.998485	B	0.25272	0.122	B	0.29524	0.103	T	0.64516	-0.6389	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	257	Q8WZ60	KLHL6_HUMAN	A	257	ENSP00000341342:V257A	ENSP00000341342:V257A	V	-	2	0	KLHL6	184708680	0.968000	0.33430	0.047000	0.18901	0.871000	0.50021	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GTC		0.572	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		86	403	0	0	0	1	0	86	403					G	183225986	A	G	183225986	3	3	79	1	0	0	0	0	1	0	0	0	8423	275	10	4	1115	4	KLHL6	3	183225986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15595	183225986	14796444	4869	15186											
KLHL24	54800	broad.mit.edu	37	chr3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctatcccaattgccaAaaggtgtataacagctgtat	8	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R|KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	492						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1474-1476)aAa>aGa		kelch-like family member 24							118	98	105					3																	183390145		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183390145A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1475A>G	3.37:g.183390145A>G	ENSP00000395012:p.Lys492Arg					KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R|KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R	p.K492R			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		8	1861	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		492					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1475A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985839	0.53934	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.56103	0.48;0.48;0.48	5.9	5.9	0.94986	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.04162	-0.26	0.80722	D	1	D;B	0.56035	0.974;0.025	D;B	0.67725	0.953;0.023	T	0.44421	-0.9329	10	0.02654	T	1	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	492;492	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	R	492	ENSP00000242810:K492R;ENSP00000395012:K492R;ENSP00000419010:K492R	ENSP00000242810:K492R	K	+	2	0	KLHL24	184872839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	AAA		0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		80	360	0	0	0	1	0	80	360					G	183390145	A	G	183390145	3	3	79	1	0	0	0	0	1	0	0	0	8409	14	1	4	1493	4	KLHL24	3	183390145	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164159	183390145	14632285	4870	15187											
YEATS2	55689	broad.mit.edu	37	chr3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaacaagatctccacggCttctcaggtctcccaaggaa	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	527					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCCACGGCTTCTCAGGTC	0.363																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1579-1581)gCt>gTt		YEATS domain containing 2							137	124	128					3																	183476677		1831	4086	5917	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183476677C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1580C>T	3.37:g.183476677C>T	ENSP00000306983:p.Ala527Val						p.A527V	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	1775	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		527					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1580C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999576	0.35320	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	5.13	3.29	0.37713	.	0.457148	0.22061	N	0.065174	T	0.14700	0.0355	N	0.12182	0.205	0.28126	N	0.930405	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.33141	T	0.24	-4.1989	5.6175	0.17440	0.0:0.6413:0.1918:0.1669	.	527	Q9ULM3	YETS2_HUMAN	V	527	ENSP00000306983:A527V	ENSP00000306983:A527V	A	+	2	0	YEATS2	184959371	0.739000	0.28196	0.954000	0.39281	0.987000	0.75469	1.212000	0.32394	1.146000	0.42352	0.585000	0.79938	GCT		0.363	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		68	427	0	0	0	1	0	68	427					T	183476677	C	T	183476677	3	4	79	1	0	0	0	0	1	0	0	0	17526	797	28	2	1626	2	YEATS2	3	183476677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86532	183476677	14545753	4871	15188											
YEATS2	55689	broad.mit.edu	37	chr3	183503951	183503951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctctaatgaaaatatcCgatagcaccttgaagactgt	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	925					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAAAATATCCGATAGCACCT	0.488																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2773-2775)tcC>tcT		YEATS domain containing 2							70	68	69					3																	183503951		2007	4195	6202	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183503951C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2775C>T	3.37:g.183503951C>T							p.S925S	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	2970	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		925					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2775C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221416	0.22457	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4236	4.9978	0.14249	0.3097:0.4504:0.1031:0.1368	.	.	.	.	X	111	.	.	R	+	1	2	YEATS2	184986645	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-3.082000	0.00613	-1.690000	0.01432	-0.290000	0.09829	CGA		0.488	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		44	217	0	0	0	1	0	44	217					T	183503951	C	T	183503951	2	4	79	1	0	0	0	0	0	0	0	1	17526	639	23	1		1	YEATS2	3	183503951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27274	183503951	14518479	4872	15189											
ABCC5	10057	broad.mit.edu	37	chr3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttgccttcttcctctTcgggactgggccgctcgtca	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	560					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCTTCCTCTTCGGGACTGGG	0.607																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1678-1680)gAa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							98	107	104					3																	183689433		2137	4244	6381	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183689433T>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1679A>T	3.37:g.183689433T>A	ENSP00000333926:p.Glu560Val					ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1919	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		560					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1679A>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179968	0.38511	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92048	-2.74;-2.96	4.94	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);	0.150530	0.44688	D	0.000437	D	0.90099	0.6907	L	0.61036	1.89	0.41621	D	0.988962	B;B	0.18461	0.001;0.028	B;B	0.13407	0.003;0.009	D	0.87123	0.2192	10	0.30078	T	0.28	-10.1008	15.2971	0.73916	0.0:0.0:0.0:1.0	.	560;560	Q86UX3;O15440	.;MRP5_HUMAN	V	560;496;560	ENSP00000333926:E560V;ENSP00000265586:E560V	ENSP00000265586:E560V	E	-	2	0	ABCC5	185172127	0.999000	0.42202	0.805000	0.32314	0.416000	0.31233	3.744000	0.55112	2.155000	0.67459	0.533000	0.62120	GAA		0.607	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		78	364	0	0	0	1	0	78	364					A	183689433	T	A	183689433	3	1	79	1	0	0	0	0	1	0	0	0	56	1783	62	5	2714	5	ABCC5	3	183689433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	185482	183689433	14332997	4873	15190											
ABCC5	10057	broad.mit.edu	37	chr3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccagcaggctgccaaCggctgctgcctcaaacattc	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	293	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGCTGCCAACGGCTGCTGCC	0.488																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(877-879)Gtt>Att		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							48	49	49					3																	183700361		1885	4109	5994	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700361C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.877G>A	3.37:g.183700361C>T	ENSP00000333926:p.Val293Ile					ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I	p.V293I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1117	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		293			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.877G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169779	0.38315	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89485	-2.52;-2.52	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063143	0.64402	D	0.000007	T	0.81880	0.4916	N	0.16307	0.4	0.58432	D	0.999992	P;B	0.34837	0.472;0.065	B;B	0.25140	0.058;0.032	T	0.81247	-0.1019	10	0.62326	D	0.03	-17.1801	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293;293	Q86UX3;O15440	.;MRP5_HUMAN	I	293;229;293	ENSP00000333926:V293I;ENSP00000265586:V293I	ENSP00000265586:V293I	V	-	1	0	ABCC5	185183055	0.998000	0.40836	0.849000	0.33467	0.981000	0.71138	3.714000	0.54889	2.941000	0.99782	0.655000	0.94253	GTT		0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		54	268	0	0	0	1	0	54	268					T	183700361	C	T	183700361	3	4	79	1	0	0	0	0	1	0	0	0	56	536	19	1	3532	1	ABCC5	3	183700361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10928	183700361	14322069	4874	15191											
HTR3D	200909	broad.mit.edu	37	chr3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgattgccatcgatgccCtcagtttctacctgccactg	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	249					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)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CATCGATGCCCTCAGTTTCTA	0.552																																						ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(745-747)Ctc>Atc		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic							105	88	93					3																	183755893		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183755893C>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.745C>A	3.37:g.183755893C>A	ENSP00000371929:p.Leu249Ile					HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	p.L249I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	745	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		249					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.745C>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629200	0.28978	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	3.29	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.148834	0.45361	D	0.000362	D	0.88588	0.6477	L	0.52126	1.63	0.22401	N	0.999139	P;P;P;P	0.49307	0.726;0.922;0.673;0.922	P;P;B;P	0.55577	0.665;0.615;0.444;0.779	T	0.79322	-0.1851	10	0.41790	T	0.15	-12.8873	7.1909	0.25824	0.0:0.8478:0.0:0.1522	.	249;76;30;76	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	I	76;201;249;30	ENSP00000334315:L76I;ENSP00000405409:L201I;ENSP00000371929:L249I;ENSP00000389268:L30I	ENSP00000334315:L76I	L	+	1	0	HTR3D	185238587	0.998000	0.40836	0.960000	0.40013	0.008000	0.06430	0.707000	0.25704	0.652000	0.30806	0.561000	0.74099	CTC		0.552	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		16	289	1	0	6.72482e-11	1	7.15107e-11	16	289					A	183755893	C	A	183755893	3	1	79	1	0	0	0	0	1	0	0	0	7477	681	24	3	903	3	HTR3D	3	183755893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55532	183755893	14266537	4875	15192											
HTR3D	200909	broad.mit.edu	37	chr3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagatgctgtcccactgCgccccagaagggaaataagg	14	10	0	2	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	362					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)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TGTCCCACTGCGCCCCAGAAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16654	0.001		0.0	False		,,,				2504	0.0					ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(1084-1086)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	41	43	43		935,1085,560	-2.3	0	3	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	64,64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	312/405,362/455,187/280	183756362	2,13004	2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756362C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1085C>T	3.37:g.183756362C>T	ENSP00000371929:p.Ala362Val					HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	p.A362V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1085	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		362					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1085C>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104866	0.20632	2.27E-4	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.53	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.580121	0.14908	N	0.291438	T	0.55146	0.1902	N	0.20807	0.61	0.09310	N	1	B;B;B;B	0.33807	0.426;0.172;0.025;0.085	B;B;B;B	0.26416	0.069;0.024;0.009;0.031	T	0.46596	-0.9180	10	0.38643	T	0.18	-1.9671	1.0791	0.01639	0.1685:0.2824:0.3314:0.2176	.	362;187;141;187	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	187;312;362;141	ENSP00000334315:A187V;ENSP00000405409:A312V;ENSP00000371929:A362V;ENSP00000389268:A141V	ENSP00000334315:A187V	A	+	2	0	HTR3D	185239056	0.000000	0.05858	0.007000	0.13788	0.151000	0.21798	-1.644000	0.02002	-0.276000	0.09206	0.462000	0.41574	GCG		0.657	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		56	221	0	0	0	1	0	56	221					T	183756362	C	T	183756362	3	4	79	1	0	0	0	0	1	0	0	0	7477	768	27	1	1281	1	HTR3D	3	183756362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	183756362	14266068	4876	15193											
HTR3C	170572	broad.mit.edu	37	chr3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaatgacttgctccctGccagtggcacccccctcatc	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	302					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTTGCTCCCTGCCAGTGGCAC	0.587																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(904-906)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							150	136	141					3																	183777407		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777407G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.904G>A	3.37:g.183777407G>A	ENSP00000322617:p.Ala302Thr						p.A302T	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	938	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		302					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.904G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	3.979	-0.006760	0.07773	.	.	ENSG00000178084	ENST00000318351	D	0.81908	-1.55	4.09	1.1	0.20463	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.741044	0.12903	N	0.429618	T	0.79458	0.4449	M	0.71581	2.175	0.09310	N	1	B	0.14805	0.011	B	0.29267	0.1	T	0.63857	-0.6542	10	0.22109	T	0.4	.	6.2804	0.21003	0.0929:0.0:0.5624:0.3447	.	302	Q8WXA8	5HT3C_HUMAN	T	302	ENSP00000322617:A302T	ENSP00000322617:A302T	A	+	1	0	HTR3C	185260101	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.477000	0.22196	0.013000	0.14918	-0.274000	0.10170	GCC		0.587	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		170	659	0	0	0	1	0	170	659					A	183777407	G	A	183777407	3	1	79	1	0	0	0	0	1	0	0	0	7476	1319	46	2	930	2	HTR3C	3	183777407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21045	183777407	14245023	4877	15194											
HTR3C	170572	broad.mit.edu	37	chr3	183777674	183777674	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctgctggagaccgtcttCattacctacctgctgcacgt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	328					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGACCGTCTTCATTACCTACC	0.572																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(982-984)ttC>ttT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							132	123	126					3																	183777674		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777674C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.984C>T	3.37:g.183777674C>T							p.F328F	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1018	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		328					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.984C>T	CCDS3250.1																																																																																				0.572	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		90	364	0	0	0	1	0	90	364					T	183777674	C	T	183777674	2	4	79	1	0	0	0	0	0	0	0	1	7476	825	29	2		2	HTR3C	3	183777674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	183777674	14244756	4878	15195											
HTR3E	285242	broad.mit.edu	37	chr3	183822576	183822576	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttatctctcctccagcAtggatgtggataagacccca	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Splice_Site_p.M116V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	131					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)			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)	CTCCTCCAGCATGGATGTGGA	0.438																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				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						c.e5-1		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic							103	96	98					3																	183822576		2203	4300	6503	SO:0001630	splice_region_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822576A>G	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.390-1A>G	3.37:g.183822576A>G						HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Splice_Site_p.M146_splice|HTR3E_ENST00000425359.2_Splice_Site_p.M116_splice|HTR3E_ENST00000436361.2_Splice_Site_p.M131_splice|HTR3E_ENST00000440596.2_Splice_Site_p.M157_splice	p.M131_splice	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	857	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		131					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Splice_Site	SNP	ENST00000415389.2	37	c.389_splice	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.378657	0.01204	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.01	3.29	2.12	0.27331	Neurotransmitter-gated ion-channel ligand-binding (3);	0.329657	0.24405	U	0.038803	T	0.58366	0.2117	L	0.28192	0.835	0.23506	N	0.997531	B;B;B;B;B	0.17038	0.003;0.003;0.02;0.02;0.002	B;B;B;B;B	0.16289	0.008;0.01;0.015;0.015;0.006	T	0.34900	-0.9810	10	0.11485	T	0.65	.	6.6043	0.22716	0.8775:0.0:0.1225:0.0	.	157;131;131;146;116	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	131;116;146;60;131;157	ENSP00000401444:M131V;ENSP00000401900:M116V;ENSP00000335511:M146V;ENSP00000391254:M60V;ENSP00000395833:M131V;ENSP00000406050:M157V	ENSP00000335511:M146V	M	+	1	0	HTR3E	185305270	0.379000	0.25123	0.070000	0.20053	0.227000	0.25037	0.614000	0.24314	0.479000	0.27511	-0.326000	0.08463	ATG		0.438	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	Missense_Mutation	17	384	0	0	0	1	0	17	384					G	183822576	A	G	183822576	5	3	79	1	0	0	0	0	0	0	1	0	7478	231	8	4	450	4	HTR3E	3	183822576	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44902	183822576	14199854	4879	15196											
EIF2B5	8893	broad.mit.edu	37	chr3	183860674	183860674	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatggatgacatcaaaGgtgagtggcaggggagaaat	15	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	552	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.e11+1		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							30	35	33					3																	183860674		2203	4300	6503	SO:0001630	splice_region_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860674G>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1654+1G>T	3.37:g.183860674G>T						EIF2B5_ENST00000444495.1_Splice_Site_p.V552_splice	p.V552_splice	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1776	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		552			W2.		Q541Z1|Q96D04	Splice_Site	SNP	ENST00000273783.3	37	c.1654_splice	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925822	0.52759	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83419	-1.72;-1.72	5.78	5.78	0.91487	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.80722	D	1	B;D	0.54964	0.023;0.969	B;P	0.61275	0.004;0.886	D	0.84377	0.0547	10	0.28530	T	0.3	.	20.0055	0.97434	0.0:0.0:1.0:0.0	.	552;552	E9PC74;Q13144	.;EI2BE_HUMAN	L	552;552;308	ENSP00000273783:V552L;ENSP00000409142:V552L	ENSP00000273783:V552L	V	+	1	0	EIF2B5	185343368	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	7.329000	0.79170	2.722000	0.93159	0.561000	0.74099	GTG		0.507	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		Missense_Mutation	25	105	1	0	1.55469e-16	1	1.70887e-16	25	105					T	183860674	G	T	183860674	5	4	79	1	0	0	0	0	0	0	1	0	5020	1014	35	3	1696	3	EIF2B5	3	183860674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38098	183860674	14161756	4880	15197											
DVL3	1857	broad.mit.edu	37	chr3	183873534	183873534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggactttaagggcgttttGcagcgacccagctataagtt	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGGCGTTTTGCAGCGACCCA	0.622																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(109-111)ttG>ttA		dishevelled segment polarity protein 3							74	71	72					3																	183873534		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183873534G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.111G>A	3.37:g.183873534G>A						DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	p.L37L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		1	359	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		37			DIX.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.111G>A	CCDS3253.1																																																																																				0.622	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		74	332	0	0	0	1	0	74	332					A	183873534	G	A	183873534	2	1	79	1	0	0	0	0	0	0	0	1	4853	1310	46	2		2	DVL3	3	183873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	183873534	14148896	4881	15198											
AP2M1	1173	broad.mit.edu	37	chr3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtgatcccgctagtgCgagaagtgggacgcaccaaa	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000292807.5	+	9	1028	c.880C>T	c.(880-882)Cga>Tga	p.R294*	AP2M1_ENST00000382456.3_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|EIF2B5_ENST00000444495.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	294	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(874-876)Cga>Tga		adaptor-related protein complex 2, mu 1 subunit							59	59	59					3																	183899752		2053	4194	6247	SO:0001587	stop_gained	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183899752C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.880C>T	3.37:g.183899752C>T	ENSP00000292807:p.Arg294*					AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000292807.5_Nonsense_Mutation_p.R294*	p.R292*	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1188	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		294			MHD.		A6NE12|D3DNT1|P20172|P53679	Nonsense_Mutation	SNP	ENST00000292807.5	37	c.874C>T	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409621	0.97542	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	292;319;294;234;279;292;223	.	ENSP00000292807:R294X	R	+	1	2	AP2M1	185382446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	2.793000	0.96121	0.655000	0.94253	CGA		0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		40	153	0	0	0	1	0	40	153					T	183899752	C	T	183899752	4	4	79	1	0	0	0	0	0	1	0	0	742	760	27	1	907	1	AP2M1	3	183899752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26218	183899752	14122678	4882	15199											
ABCF3	55324	broad.mit.edu	37	chr3	183911153	183911153	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggttctgccttccagCcccaacttctacattctgga	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	628	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.e20-1		ATP-binding cassette, sub-family F (GCN20), member 3							126	120	122					3																	183911153		2203	4300	6503	SO:0001630	splice_region_variant	55324						ATP binding|ATPase activity	g.chr3:183911153C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1884-1C>T	3.37:g.183911153C>T						EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site_p.C622_splice	p.C628_splice	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2069	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		628			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	ENST00000429586.2	37	c.1883_splice	CCDS3254.1																																																																																				0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	Silent	95	510	0	0	0	1	0	95	510					T	183911153	C	T	183911153	5	4	79	1	0	0	0	0	0	0	1	0	67	753	26	2	1962	2	ABCF3	3	183911153	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11401	183911153	14111277	4883	15200											
ALG3	10195	broad.mit.edu	37	chr3	183962463	183962463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggagaagaaacagtaAcccaggggcgaagagcagca	15	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000397676.3	-	5	682	c.652T>C	c.(652-654)Tta>Cta	p.L218L	ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Silent_p.L178L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	218					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(532-534)Tta>Cta		ALG3, alpha-1,3- mannosyltransferase							55	58	57					3																	183962463		2060	4196	6256	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183962463A>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.652T>C	3.37:g.183962463A>G						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L218L|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L	p.L178L			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	986	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		218					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.532T>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870045	0.17322	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.26	0.239	0.15484	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	-4.4585	8.2378	0.31636	0.5004:0.0:0.4996:0.0	.	.	.	.	A	121	.	.	V	-	2	0	ALG3	185445157	0.970000	0.33590	0.011000	0.14972	0.995000	0.86356	2.013000	0.40942	0.045000	0.15804	0.379000	0.24179	GTT		0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		17	67	0	0	0	1	0	17	67					G	183962463	A	G	183962463	2	3	79	1	0	0	0	0	0	0	0	1	520	40	2	4		4	ALG3	3	183962463	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51310	183962463	14059967	4884	15201											
ECE2	9718	broad.mit.edu	37	chr3	183994316	183994316	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggatgaagacgcacccgaGacccccgtagagggcggggc	17	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183994316G>T	ENST00000402825.3	+	3	480				ECE2_ENST00000404464.3_Missense_Mutation_p.E29D|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						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)			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)			ACGCACCCGAGACCCCCGTAG	0.667																																						ENST00000404464.3																			0				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						c.(85-87)gaG>gaT		endothelin converting enzyme 2							17	21	20					3																	183994316		1937	4103	6040	SO:0001627	intron_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.chr3:183994316G>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.481-364G>T	3.37:g.183994316G>T						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D	p.E29D	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	225	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.87G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084741	0.08583	.	.	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86164	-1.6;-2.08	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	T	0.69522	0.3120	N	0.04880	-0.145	0.40040	D	0.975649	B;B;B	0.17667	0.023;0.0;0.004	B;B;B	0.19666	0.026;0.001;0.006	T	0.63189	-0.6693	10	0.12766	T	0.61	.	8.3464	0.32275	0.1115:0.0:0.8885:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	D	29	ENSP00000385846:E29D;ENSP00000350066:E29D	ENSP00000350066:E29D	E	+	3	2	ECE2	185477010	0.650000	0.27331	0.992000	0.48379	0.819000	0.46315	0.506000	0.22658	1.934000	0.56057	0.462000	0.41574	GAG		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		25	80	1	0	6.12954e-19	1	6.81806e-19	25	80					T	183994316	G	T	183994316	1	4	79	0	1	0	0	0	0	0	0	0	4906	933	33	3		3	ECE2	3	183994316	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31853	183994316	14028114	4885	15202											
EIF4G1	1981	broad.mit.edu	37	chr3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctatggtgcagatgacCggtcacagggagcaatcatt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000346169.2	+	10	974	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	235					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGATGACCGGTCACAGGG	0.557																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(703-705)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1							83	81	82					3																	184039075		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039075C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.703C>T	3.37:g.184039075C>T	ENSP00000316879:p.Arg235Trp					EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R235W	p.R235W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1117	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		235					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.703C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997630	0.54147	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	3.86;3.85;3.78;0.71;2.75;2.75;3.86;2.9;3.67;3.86;3.79;3.86;3.86;3.86;3.85;2.29;3.67;0.66;3.65;0.54;1.28;3.63	5.54	3.73	0.42828	.	0.504049	0.20782	N	0.085777	T	0.55273	0.1910	N	0.24115	0.695	0.41002	D	0.984934	B;D;D;B	0.76494	0.007;0.999;0.999;0.14	B;D;D;B	0.71870	0.002;0.975;0.952;0.015	T	0.59327	-0.7475	10	0.66056	D	0.02	-16.9319	9.9227	0.41474	0.0:0.838:0.0:0.162	.	242;235;235;242	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	235;195;148;39;235;242;242;176;71;242;148;235;235;242;195;71;71;39;39;39;39;39	ENSP00000316879:R235W;ENSP00000391935:R195W;ENSP00000376320:R148W;ENSP00000407244:R39W;ENSP00000391412:R235W;ENSP00000413159:R242W;ENSP00000371767:R242W;ENSP00000403269:R176W;ENSP00000317600:R71W;ENSP00000338020:R242W;ENSP00000407682:R148W;ENSP00000343450:R235W;ENSP00000323737:R235W;ENSP00000416255:R242W;ENSP00000395974:R195W;ENSP00000398145:R71W;ENSP00000399858:R71W;ENSP00000411707:R39W;ENSP00000411826:R39W;ENSP00000409545:R39W;ENSP00000399969:R39W;ENSP00000404754:R39W	ENSP00000323737:R235W	R	+	1	2	EIF4G1	185521769	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.261000	0.32980	1.585000	0.49928	0.655000	0.94253	CGG		0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	487	0	0	0	1	0	18	487					T	184039075	C	T	184039075	3	4	79	1	0	0	0	0	1	0	0	0	5054	643	23	1	733	1	EIF4G1	3	184039075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44759	184039075	13983355	4886	15203											
EIF4G1	1981	broad.mit.edu	37	chr3	184039152	184039152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagaatcccagccttcGtcgccttctccgaccccatc	5	20	2	1	rs371776051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039152G>A	ENST00000346169.2	+	10	1051	c.780G>A	c.(778-780)tcG>tcA	p.S260S	EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000342981.4_Silent_p.S260S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.S64S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	260					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGCCTTCGTCGCCTTCTC	0.572																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(778-780)tcG>tcA		eukaryotic translation initiation factor 4 gamma, 1		G	,,,,,,	0,4406		0,0,2203	76	79	78		801,801,192,780,780,288,519	-6.9	0.8	3		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	267/1607,267/1607,64/1405,260/1601,260/1600,96/1436,173/1513	184039152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039152G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.780G>A	3.37:g.184039152G>A						EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF4G1_ENST00000346169.2_Silent_p.S260S	p.S260S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1194	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		260					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.780G>A	CCDS3259.1																																																																																				0.572	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		9	515	0	0	0	1	0	9	515					A	184039152	G	A	184039152	2	1	79	1	0	0	0	0	0	0	0	1	5054	1132	40	1		1	EIF4G1	3	184039152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77	184039152	13983278	4887	15204											
EIF4G1	1981	broad.mit.edu	37	chr3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgcagatcagtggaaGcctctaaacctagaggagaa	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000346169.2	+	13	2077	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	602	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGTGGAAGCCTCTAAACC	0.448																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1804-1806)aaG>aaT		eukaryotic translation initiation factor 4 gamma, 1							151	146	148					3																	184040619		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040619G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1806G>T	3.37:g.184040619G>T	ENSP00000316879:p.Lys602Asn					EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.K602N	p.K602N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	2220	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		602			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1806G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132163	0.56828	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.4	4.53	0.55603	.	0.048738	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62016	1.91	0.58432	D	0.999993	D;D;D;D	0.56287	0.975;0.975;0.957;0.975	P;P;P;P	0.57468	0.821;0.821;0.65;0.821	T	0.55036	-0.8203	10	0.36615	T	0.2	-16.0527	8.6956	0.34293	0.2243:0.0:0.7757:0.0	.	609;602;602;609	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	602;562;515;602;609;609;543;438;609;515;602;602;609;562;438;438;406;406	ENSP00000316879:K602N;ENSP00000391935:K562N;ENSP00000376320:K515N;ENSP00000391412:K602N;ENSP00000413159:K609N;ENSP00000371767:K609N;ENSP00000403269:K543N;ENSP00000317600:K438N;ENSP00000338020:K609N;ENSP00000407682:K515N;ENSP00000343450:K602N;ENSP00000323737:K602N;ENSP00000416255:K609N;ENSP00000395974:K562N;ENSP00000398145:K438N;ENSP00000399858:K438N;ENSP00000411826:K406N;ENSP00000404754:K406N	ENSP00000323737:K602N	K	+	3	2	EIF4G1	185523313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.556000	0.45862	1.525000	0.49052	0.563000	0.77884	AAG		0.448	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		112	452	1	0	2.51308e-46	1	3.08599e-46	112	452					T	184040619	G	T	184040619	3	4	79	1	0	0	0	0	1	0	0	0	5054	962	34	3	1848	3	EIF4G1	3	184040619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1467	184040619	13981811	4888	15205											
EIF4G1	1981	broad.mit.edu	37	chr3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggagtttgagaaagAcaaagatgatgatgaggttt	13	2	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000346169.2	+	17	2832	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGAGAAAGACAAAGATGAT	0.443																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2563-2565)gAc>gGc		eukaryotic translation initiation factor 4 gamma, 1							158	150	152					3																	184042077		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042077A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2561A>G	3.37:g.184042077A>G	ENSP00000316879:p.Asp854Gly					EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D854G	p.D855G	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2978	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		854			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2564A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492538	0.84962	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.30510	0.0767	N	0.26130	0.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.988;0.994	D;D;D;D	0.81914	0.995;0.947;0.934;0.971	T	0.03651	-1.1016	10	0.08381	T	0.77	-19.4074	16.3019	0.82825	1.0:0.0:0.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	G	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854G;ENSP00000391935:D814G;ENSP00000376320:D767G;ENSP00000413159:D862G;ENSP00000371767:D861G;ENSP00000403269:D795G;ENSP00000317600:D690G;ENSP00000338020:D861G;ENSP00000407682:D768G;ENSP00000343450:D855G;ENSP00000323737:D854G;ENSP00000416255:D861G;ENSP00000395974:D815G;ENSP00000398145:D690G;ENSP00000399858:D691G;ENSP00000411826:D659G;ENSP00000404754:D658G	ENSP00000323737:D854G	D	+	2	0	EIF4G1	185524771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.297000	0.96120	2.317000	0.78254	0.459000	0.35465	GAC		0.443	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		90	477	0	0	0	1	0	90	477					G	184042077	A	G	184042077	3	3	79	1	0	0	0	0	1	0	0	0	5054	275	10	4	2619	4	EIF4G1	3	184042077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1458	184042077	13980353	4889	15206											
EIF4G1	1981	broad.mit.edu	37	chr3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaggaagtggaggagCggagtagagaacggccctcc	16	9	1	1	rs369412977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000346169.2	+	24	3848	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1193					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGAGGAGCGGAGTAGAGA	0.672																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3580-3582)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	38	42	40		3598,3598,2992,3580,3577,3085,3316	4.3	1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1200/1607,1200/1607,998/1405,1194/1601,1193/1600,1029/1436,1106/1513	184045152	1,13005	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045152C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3577C>T	3.37:g.184045152C>T	ENSP00000316879:p.Arg1193Trp					EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1193W	p.R1194W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		23	3994	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1193					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3580C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444943	0.83993	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.81;3.8;3.72;3.8;3.62;3.8;3.72;3.79;3.81;3.8;3.8;3.61;3.59;3.59	5.2	4.33	0.51752	.	0.316936	0.33753	N	0.004598	T	0.11281	0.0275	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.96;0.96	T	0.02893	-1.1097	10	0.62326	D	0.03	-14.8784	8.8632	0.35269	0.1826:0.7382:0.0:0.0792	.	1200;1194;1193	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1193;1153;1106;1200;1029;1200;1107;1194;1193;1200;1154;1030;998;997	ENSP00000316879:R1193W;ENSP00000391935:R1153W;ENSP00000376320:R1106W;ENSP00000371767:R1200W;ENSP00000317600:R1029W;ENSP00000338020:R1200W;ENSP00000407682:R1107W;ENSP00000343450:R1194W;ENSP00000323737:R1193W;ENSP00000416255:R1200W;ENSP00000395974:R1154W;ENSP00000399858:R1030W;ENSP00000411826:R998W;ENSP00000404754:R997W	ENSP00000323737:R1193W	R	+	1	2	EIF4G1	185527846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.422000	0.47177	0.655000	0.94253	CGG		0.672	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		59	284	0	0	0	1	0	59	284					T	184045152	C	T	184045152	3	4	79	1	0	0	0	0	1	0	0	0	5054	759	27	1	3663	1	EIF4G1	3	184045152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3075	184045152	13977278	4890	15207											
EIF4G1	1981	broad.mit.edu	37	chr3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatcccccacgtgtggCtctacctagcggaactggta	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000346169.2	+	27	4283	c.4012C>A	c.(4012-4014)Ctc>Atc	p.L1338I	EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4015-4017)Ctc>Atc		eukaryotic translation initiation factor 4 gamma, 1							139	138	138					3																	184046477		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046477C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4012C>A	3.37:g.184046477C>A	ENSP00000316879:p.Leu1338Ile					EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338I	p.L1339I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4429	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1338			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4015C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196356	0.94960	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	D	0.000005	T	0.68284	0.2984	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66416	-0.5929	10	0.38643	T	0.18	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	I	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338I;ENSP00000391935:L1298I;ENSP00000376320:L1251I;ENSP00000371767:L1345I;ENSP00000317600:L1174I;ENSP00000338020:L1345I;ENSP00000407682:L1252I;ENSP00000343450:L1339I;ENSP00000323737:L1338I;ENSP00000416255:L1345I;ENSP00000395974:L1299I;ENSP00000399858:L1175I;ENSP00000411826:L1143I;ENSP00000404754:L1142I	ENSP00000323737:L1338I	L	+	1	0	EIF4G1	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		134	562	1	0	6.42063e-57	1	8.038e-57	134	562					A	184046477	C	A	184046477	3	1	79	1	0	0	0	0	1	0	0	0	5054	797	28	3	4110	3	EIF4G1	3	184046477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1325	184046477	13975953	4891	15208											
EIF4G1	1981	broad.mit.edu	37	chr3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcactgtatgacgaggacGtggtgaaggaggatgccttc	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000346169.2	+	33	4931	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|FAM131A_ENST00000450976.1_5'Flank|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1554	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACGAGGACGTGGTGAAGGA	0.592																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4663-4665)Gtg>Atg		eukaryotic translation initiation factor 4 gamma, 1							135	114	122					3																	184052556		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184052556G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4660G>A	3.37:g.184052556G>A	ENSP00000316879:p.Val1554Met					EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.V1554M	p.V1555M	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		32	5077	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1554			EIF4A-binding.|W2.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4663G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.15	2.35	0.29111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.071082	0.56097	N	0.000034	D	0.91971	0.7457	M	0.89601	3.045	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.951;0.961;0.961	D	0.91105	0.4917	10	0.87932	D	0	-3.1884	9.4062	0.38462	0.1802:0.0:0.8198:0.0	.	1561;1555;1554	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	M	1554;1514;1467;1561;1390;1561;1468;1555;1554;1561;1515;1391;1359;1358	ENSP00000316879:V1554M;ENSP00000391935:V1514M;ENSP00000376320:V1467M;ENSP00000371767:V1561M;ENSP00000317600:V1390M;ENSP00000338020:V1561M;ENSP00000407682:V1468M;ENSP00000343450:V1555M;ENSP00000323737:V1554M;ENSP00000416255:V1561M;ENSP00000395974:V1515M;ENSP00000399858:V1391M;ENSP00000411826:V1359M;ENSP00000404754:V1358M	ENSP00000323737:V1554M	V	+	1	0	EIF4G1	185535250	1.000000	0.71417	0.568000	0.28447	0.917000	0.54804	7.675000	0.84002	0.409000	0.25649	0.555000	0.69702	GTG		0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		43	418	0	0	0	1	0	43	418					A	184052556	G	A	184052556	3	1	79	1	0	0	0	0	1	0	0	0	5054	1145	40	1	4782	1	EIF4G1	3	184052556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6079	184052556	13969874	4892	15209											
FAM131A	131408	broad.mit.edu	37	chr3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggttctcccggcctgtgCgccagggctccgtggagcct	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000310585.4	+	3	1971	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	203						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(607-609)Cgc>Tgc		family with sequence similarity 131, member A							49	57	54					3																	184062357		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184062357C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.607C>T	3.37:g.184062357C>T	ENSP00000310135:p.Arg203Cys					FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C	p.R203C			Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	1971	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		203					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.607C>T		.	.	.	.	.	.	.	.	.	.	c	18.84	3.709851	0.68730	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.4	5.4	0.78164	.	0.424092	0.24962	N	0.034217	T	0.45438	0.1342	L	0.47716	1.5	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.911;0.995	T	0.18398	-1.0338	10	0.44086	T	0.13	-16.6087	17.3588	0.87344	0.0:1.0:0.0:0.0	.	203;234;111	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	C	149;111;149;149;234;149;203	ENSP00000388551:R149C;ENSP00000414050:R111C;ENSP00000340974:R149C;ENSP00000414913:R149C;ENSP00000373360:R234C;ENSP00000390588:R149C;ENSP00000310135:R203C	ENSP00000310135:R203C	R	+	1	0	FAM131A	185545051	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.204000	0.51082	2.539000	0.85634	0.655000	0.94253	CGC		0.642	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		142	506	0	0	0	1	0	142	506					T	184062357	C	T	184062357	3	4	79	1	0	0	0	0	1	0	0	0	5460	768	27	1	722	1	FAM131A	3	184062357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	184062357	13960073	4893	15210											
CLCN2	1181	broad.mit.edu	37	chr3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccctcgatggccttcCggagctggaaaggtgagagg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000265593.4	-	24	2678	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	836	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(2506-2508)cGg>cAg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						46	48	47					3																	184064584		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184064584C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2507G>A	3.37:g.184064584C>T	ENSP00000265593:p.Arg836Gln					CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q	p.R836Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		24	2678	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		836			CBS 2.		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.2507G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259738	0.80246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-1.94	5.51	4.64	0.57946	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.983;0.999;0.99	D	0.92637	0.6121	10	0.25751	T	0.34	-16.6565	14.3172	0.66460	0.0:0.9285:0.0:0.0715	.	792;807;819;836;792	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	836;819;792;807	ENSP00000265593:R836Q;ENSP00000345056:R819Q;ENSP00000400425:R792Q;ENSP00000391928:R807Q	ENSP00000265593:R836Q	R	-	2	0	CLCN2	185547278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	1.340000	0.45581	0.655000	0.94253	CGG		0.612	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			79	317	0	0	0	1	0	79	317					T	184064584	C	T	184064584	3	4	79	1	0	0	0	0	1	0	0	0	3472	652	23	1	193	1	CLCN2	3	184064584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2227	184064584	13957846	4894	15211											
CLCN2	1181	broad.mit.edu	37	chr3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacactgtgtgtgtcaccGctcctgccagcgcagctgcc	12	15	1	0	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000265593.4	-	15	1700	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	510					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1528-1530)gCg>gTg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	50	39	43		1478,1397,1529,1529	5.1	1	3	dbSNP_134	43	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	64,64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	493/882,466/855,510/870,510/899	184072081	2,13002	2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184072081G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1529C>T	3.37:g.184072081G>A	ENSP00000265593:p.Ala510Val		OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V	p.A510V	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1700	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		510					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1529C>T	CCDS3263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.197962|5.197962	0.94997|0.94997	0.0|0.0	2.33E-4|2.33E-4	ENSG00000114859|ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512|ENST00000423355	D;D;D;D|T	0.95171|0.70399	-3.63;-3.63;-3.63;-3.63|-0.48	5.14|5.14	5.14|5.14	0.70334|0.70334	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	L|L	0.53561|0.53561	1.675|1.675	0.41557|0.41557	D|D	0.988604|0.988604	D;P;P;B;B|.	0.52996|.	0.957;0.558;0.948;0.415;0.204|.	P;B;P;B;B|.	0.48400|.	0.568;0.158;0.576;0.158;0.075|.	T|T	0.81575|0.81575	-0.0870|-0.0870	10|7	0.87932|0.87932	D|D	0|0	-3.6081|-3.6081	18.2333|18.2333	0.89941|0.89941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466;510;493;510;466|.	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58|.	.;.;.;CLCN2_HUMAN;.|.	V|W	510;493;466;510|126	ENSP00000265593:A510V;ENSP00000345056:A493V;ENSP00000400425:A466V;ENSP00000391928:A510V|ENSP00000412226:R126W	ENSP00000265593:A510V|ENSP00000412226:R126W	A|R	-|-	2|1	0|2	CLCN2|CLCN2	185554775|185554775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.768000|9.768000	0.98965|0.98965	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			36	145	0	0	0	1	0	36	145					A	184072081	G	A	184072081	3	1	79	1	0	0	0	0	1	0	0	0	3472	1087	38	1	1207	1	CLCN2	3	184072081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7497	184072081	13950349	4895	15212											
CLCN2	1181	broad.mit.edu	37	chr3	184079203	184079203	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctcagcttcacttAccagggtctgctcgtactgc	10	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000265593.4	-	1	235		c.e1+1		POLR2H_ENST00000438240.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000423355.2_Splice_Site|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank|CLCN2_ENST00000457512.1_Splice_Site|CLCN2_ENST00000434054.2_Splice_Site|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000344937.7_Splice_Site|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2						cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.e1+1		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						60	62	61					3																	184079203		2203	4300	6503	SO:0001630	splice_region_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079203A>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.63+1T>C	3.37:g.184079203A>G						CLCN2_ENST00000344937.7_Splice_Site|CLCN2_ENST00000434054.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Splice_Site|CLCN2_ENST00000457512.1_Splice_Site		NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	235	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)							B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Splice_Site	SNP	ENST00000265593.4	37		CCDS3263.1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180565	0.21787	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2202	0.37373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLCN2	185561897	0.998000	0.40836	0.998000	0.56505	0.088000	0.18126	1.702000	0.37836	1.742000	0.51746	0.370000	0.22315	.		0.687	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		Intron	64	360	0	0	0	1	0	64	360					G	184079203	A	G	184079203	5	3	79	1	0	0	0	0	0	0	1	0	3472	405	14	4	2727	4	CLCN2	3	184079203	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	184079203	13943227	4896	15213											
THPO	7066	broad.mit.edu	37	chr3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgggtggcagggagcCtgtgtctgatgttcctgagg	19	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_ENST00000421442.2_Missense_Mutation_p.R243K|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.G278S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	282					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGGGAGCCTGTGTCTGAT	0.567																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(844-846)Ggc>Agc		thrombopoietin							197	210	205					3																	184090519		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090519C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.844G>A	3.37:g.184090519C>T	ENSP00000204615:p.Gly282Ser					THPO_ENST00000421442.2_Missense_Mutation_p.R243K|THPO_ENST00000445696.2_Missense_Mutation_p.G278S|EIF2B5_ENST00000444495.1_Intron	p.G282S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1058	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		282					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.844G>A	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090015|3.090015	0.55968|0.55968	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.33654|0.37058	1.4;1.4|1.22	4.3|4.3	2.31|2.31	0.28768|0.28768	Four-helical cytokine, core (1);|.	0.571172|.	0.15959|.	N|.	0.236359|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|B	0.25563|0.21606	0.129;0.079|0.058	B;B|B	0.20767|0.22601	0.031;0.014|0.04	T|T	0.19386|0.19386	-1.0307|-1.0307	10|9	0.45353|0.26408	T|T	0.12|0.33	-16.674|-16.674	5.3085|5.3085	0.15817|0.15817	0.0:0.7299:0.0:0.2701|0.0:0.7299:0.0:0.2701	.|.	278;282|243	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	282;278;243|243	ENSP00000204615:G282S;ENSP00000410763:G278S|ENSP00000411704:R243K	ENSP00000204615:G282S|ENSP00000411704:R243K	G|R	-|-	1|2	0|0	THPO|THPO	185573213|185573213	0.009000|0.009000	0.17119|0.17119	0.321000|0.321000	0.25320|0.25320	0.797000|0.797000	0.45037|0.45037	0.824000|0.824000	0.27379|0.27379	1.020000|1.020000	0.39573|0.39573	0.467000|0.467000	0.42956|0.42956	GGC|AGG		0.567	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		196	810	0	0	0	1	0	196	810					T	184090519	C	T	184090519	3	4	79	1	0	0	0	0	1	0	0	0	15924	681	24	2	221	2	THPO	3	184090519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11316	184090519	13931911	4897	15214											
CHRD	8646	broad.mit.edu	37	chr3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcactgtcactgcccacCtccttgggcctcctggaacg	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000204604.1	+	14	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	586	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1756-1758)Ctc>Ttc		chordin							83	86	85					3																	184102964		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102964C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1756C>T	3.37:g.184102964C>T	ENSP00000204604:p.Leu586Phe					CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|EIF2B5_ENST00000444495.1_Intron	p.L586F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2002	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		586			CHRD 4.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1756C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191675	0.78902	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.39692	1.235	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.91635	0.999;0.991;0.817;0.995	T	0.55198	-0.8178	10	0.51188	T	0.08	-22.5074	16.8087	0.85712	0.0:1.0:0.0:0.0	.	216;546;586;586	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	F	586;586;546;216;299	ENSP00000204604:L586F;ENSP00000408972:L586F;ENSP00000334036:L546F;ENSP00000442948:L216F	ENSP00000204604:L586F	L	+	1	0	CHRD	185585658	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.067000	0.64357	2.662000	0.90505	0.655000	0.94253	CTC		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		149	638	0	0	0	1	0	149	638					T	184102964	C	T	184102964	3	4	79	1	0	0	0	0	1	0	0	0	3381	681	24	2	1810	2	CHRD	3	184102964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12445	184102964	13919466	4898	15215											
CHRD	8646	broad.mit.edu	37	chr3	184104362	184104362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgggcgctgggggctcCggatacagcctctgctgcgc	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	ENST00000204604.1	+	16	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	672					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGGGCTCCGGATACAGCC	0.716																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2014-2016)cCg>cTg		chordin							4	5	5					3																	184104362		1892	3854	5746	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104362C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2015C>T	3.37:g.184104362C>T	ENSP00000204604:p.Pro672Leu					CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	p.P672L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2261	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		672					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2015C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823859	0.32237	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14640	2.73;2.5;2.49	4.58	-5.2	0.02823	.	1.971630	0.02221	N	0.064057	T	0.07908	0.0198	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.15719	0.014;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.003	T	0.25398	-1.0133	10	0.23891	T	0.37	-0.2546	2.0571	0.03583	0.1457:0.3244:0.106:0.424	.	632;672;672	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	L	672;672;632;385	ENSP00000204604:P672L;ENSP00000408972:P672L;ENSP00000334036:P632L	ENSP00000204604:P672L	P	+	2	0	CHRD	185587056	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.745000	0.04834	-0.742000	0.04790	-0.232000	0.12228	CCG		0.716	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		17	73	0	0	0	1	0	17	73					T	184104362	C	T	184104362	3	4	79	1	0	0	0	0	1	0	0	0	3381	652	23	1	2077	1	CHRD	3	184104362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1398	184104362	13918068	4899	15216											
EPHB3	2049	broad.mit.edu	37	chr3	184290513	184290513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcaacctcttctactaCgaggctgacagcgatgtggc	9	13	3	1	rs541541992	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290513C>T	ENST00000330394.2	+	3	857	c.405C>T	c.(403-405)taC>taT	p.Y135Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	135	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCTTCTACTACGAGGCTGACA	0.587													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20658	0.0		0.0	False		,,,				2504	0.0					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(403-405)taC>taT		EPH receptor B3							66	64	64					3																	184290513		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290513C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.405C>T	3.37:g.184290513C>T						EIF2B5_ENST00000444495.1_Intron	p.Y135Y	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	857	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		135					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.405C>T	CCDS3268.1																																																																																				0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		8	313	0	0	0	1	0	8	313					T	184290513	C	T	184290513	2	4	79	1	0	0	0	0	0	0	0	1	5194	547	19	1		1	EPHB3	3	184290513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186151	184290513	13731917	4900	15217											
EPHB3	2049	broad.mit.edu	37	chr3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgtgcatccaccaccGcaggcttcgcactcttcccc	8	17	1	1	rs187877110	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	217	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.A217T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19936	0.002		0.0	False		,,,				2504	0.0					ENST00000330394.2																			1	Substitution - Missense(1)	p.A217T(1)	stomach(1)	breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(649-651)Gca>Aca		EPH receptor B3							56	58	57					3																	184290757		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290757G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.649G>A	3.37:g.184290757G>A	ENSP00000332118:p.Ala217Thr					EIF2B5_ENST00000444495.1_Intron	p.A217T	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	1101	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		217			Cys-rich.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.649G>A	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.4	4.638959	0.87760	.	.	ENSG00000182580	ENST00000330394	T	0.73258	-0.73	5.27	5.27	0.74061	.	0.056206	0.64402	D	0.000001	T	0.78824	0.4344	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79706	-0.1691	10	0.52906	T	0.07	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	217	P54753	EPHB3_HUMAN	T	217	ENSP00000332118:A217T	ENSP00000332118:A217T	A	+	1	0	EPHB3	185773451	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.872000	0.87187	2.445000	0.82738	0.561000	0.74099	GCA		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		71	345	0	0	0	1	0	71	345					A	184290757	G	A	184290757	3	1	79	1	0	0	0	0	1	0	0	0	5194	1087	38	1	659	1	EPHB3	3	184290757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244	184290757	13731673	4901	15218											
EPHB3	2049	broad.mit.edu	37	chr3	184297593	184297593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcgggacttcctaagCgaggcctccatcatgggtca	13	13	2	0	rs568698784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16194	0.0		0.0	False		,,,				2504	0.001					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2041-2043)agC>agT		EPH receptor B3							72	66	68					3																	184297593		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297593C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2043C>T	3.37:g.184297593C>T						EIF2B5_ENST00000444495.1_Intron	p.S681S	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2495	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		681			Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2043C>T	CCDS3268.1																																																																																				0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		82	342	0	0	0	1	0	82	342					T	184297593	C	T	184297593	2	4	79	1	0	0	0	0	0	0	0	1	5194	767	27	1		1	EPHB3	3	184297593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6836	184297593	13724837	4902	15219											
EPHB3	2049	broad.mit.edu	37	chr3	184298910	184298910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccctggacaagctcatcCgcaatgctgccagcctcaag	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184298910C>T	ENST00000330394.2	+	14	3141	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	897					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAAGCTCATCCGCAATGCTGC	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2689-2691)Cgc>Tgc		EPH receptor B3							82	94	90					3																	184298910		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298910C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2689C>T	3.37:g.184298910C>T	ENSP00000332118:p.Arg897Cys					EIF2B5_ENST00000444495.1_Intron	p.R897C	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		14	3141	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		897					Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2689C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345770	0.61073	.	.	ENSG00000182580	ENST00000330394	T	0.62639	0.01	3.9	3.0	0.34707	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84958	0.0875	10	0.87932	D	0	.	13.1962	0.59740	0.0:0.8382:0.1618:0.0	.	897	P54753	EPHB3_HUMAN	C	897	ENSP00000332118:R897C	ENSP00000332118:R897C	R	+	1	0	EPHB3	185781604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	0.940000	0.37473	0.478000	0.44815	CGC		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		9	488	0	0	0	1	0	9	488					T	184298910	C	T	184298910	3	4	79	1	0	0	0	0	1	0	0	0	5194	652	23	1	2743	1	EPHB3	3	184298910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317	184298910	13723520	4903	15220											
EPHB3	2049	broad.mit.edu	37	chr3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgcagatgaaccagaCgctgcctgtgcaggtctgac	14	12	1	4	rs200546160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17860	0.0		0.001	False		,,,				2504	0.0					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2977-2979)aCg>aTg		EPH receptor B3							41	39	40					3																	184299391		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184299391C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2978C>T	3.37:g.184299391C>T	ENSP00000332118:p.Thr993Met					EIF2B5_ENST00000444495.1_Intron	p.T993M	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		16	3430	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		993					Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2978C>T	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.94	3.259532	0.59321	.	.	ENSG00000182580	ENST00000330394	T	0.06528	3.29	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.16307	0.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.20519	T	0.43	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	993	P54753	EPHB3_HUMAN	M	993	ENSP00000332118:T993M	ENSP00000332118:T993M	T	+	2	0	EPHB3	185782085	0.999000	0.42202	0.981000	0.43875	0.946000	0.59487	4.054000	0.57434	2.378000	0.81104	0.643000	0.83706	ACG		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		26	100	0	0	0	1	0	26	100					T	184299391	C	T	184299391	3	4	79	1	0	0	0	0	1	0	0	0	5194	536	19	1	3040	1	EPHB3	3	184299391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	184299391	13723039	4904	15221											
VPS8	23355	broad.mit.edu	37	chr3	184766325	184766325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgatcagctttgccGtctctaccgaggaagctcca	9	12	2	1	rs16859527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	ENST00000437079.3	+	47	4286	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1372			R -> H (in dbSNP:rs16859527).				zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGCTTTGCCGTCTCTACCGA	0.418													G|||	58	0.0115815	0.0	0.0	5008	,	,		22458	0.0565		0.0	False		,,,				2504	0.001					ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(4114-4116)cGt>cAt		vacuolar protein sorting 8 homolog (S. cerevisiae)							170	163	165					3																	184766325		1854	4107	5961	SO:0001583	missense	23355						zinc ion binding	g.chr3:184766325G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.4115G>A	3.37:g.184766325G>A	ENSP00000397879:p.Arg1372His					VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H	p.R1372H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		47	4286	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1372		R -> H (in dbSNP:rs16859527).			A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.4115G>A	CCDS46971.1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	14.82	2.650495	0.47362	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	6.08	1.24	0.21308	.	0.363435	0.32015	N	0.006719	T	0.04634	0.0126	L	0.40543	1.245	0.31810	N	0.627244	P;B;P	0.38440	0.631;0.346;0.56	B;B;B	0.33690	0.095;0.168;0.096	T	0.08269	-1.0730	10	0.45353	T	0.12	-26.1371	8.6392	0.33968	0.3793:0.0:0.6207:0.0	rs16859527;rs52799081;rs16859527	1372;1280;1370	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	1372;1372;1370;1280	ENSP00000287546:R1372H;ENSP00000397879:R1372H;ENSP00000404704:R1370H;ENSP00000405483:R1280H	ENSP00000287546:R1372H	R	+	2	0	VPS8	186249019	0.608000	0.26966	0.388000	0.26195	0.997000	0.91878	0.587000	0.23909	-0.049000	0.13379	0.655000	0.94253	CGT		0.418	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		89	395	0	0	0	1	0	89	395					A	184766325	G	A	184766325	3	1	79	1	0	0	0	0	1	0	0	0	17272	1145	40	1	4293	1	VPS8	3	184766325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466934	184766325	13256105	4905	15222											
MAP3K13	9175	broad.mit.edu	37	chr3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgagcggaagcttgagCgggcgaataatttatacatg	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R478W(2)|p.R478R(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478																																						ENST00000265026.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.R478W(2)|p.R478R(1)	large_intestine(3)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1432-1434)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 13							139	143	142					3																	185183578		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185183578C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1432C>T	3.37:g.185183578C>T	ENSP00000265026:p.Arg478Trp					MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W	p.R478W	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1766	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		478						Missense_Mutation	SNP	ENST00000265026.3	37	c.1432C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873817	0.72180	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80566	-1.39;-1.35;-1.25;-1.25;-1.35;-1.05	4.97	2.95	0.34219	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.83243	0.5212	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	D	0.84993	0.0895	10	0.72032	D	0.01	.	13.4974	0.61434	0.3171:0.6829:0.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	W	271;478;334;334;478;223	ENSP00000411483:R271W;ENSP00000399910:R478W;ENSP00000409325:R334W;ENSP00000439257:R334W;ENSP00000265026:R478W;ENSP00000415712:R223W	ENSP00000265026:R478W	R	+	1	2	MAP3K13	186666272	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.491000	0.22419	2.309000	0.77851	0.655000	0.94253	CGG		0.478	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		143	562	0	0	0	1	0	143	562					T	185183578	C	T	185183578	3	4	79	1	0	0	0	0	1	0	0	0	9288	759	27	1	1462	1	MAP3K13	3	185183578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417253	185183578	12838852	4906	15223											
MAP3K13	9175	broad.mit.edu	37	chr3	185200169	185200169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagtttgaagaatcggaCtgtgactcttcagatgggga	13	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_ENST00000446828.1_Silent_p.D735D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D|MAP3K13_ENST00000424227.1_Silent_p.D942D	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.D942D(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423																																						ENST00000265026.3																			1	Substitution - coding silent(1)	p.D942D(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2824-2826)gaC>gaT		mitogen-activated protein kinase kinase kinase 13							208	187	194					3																	185200169		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185200169C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2826C>T	3.37:g.185200169C>T						TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000446828.1_Silent_p.D735D|MAP3K13_ENST00000424227.1_Silent_p.D942D|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D	p.D942D	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		14	3160	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		942						Silent	SNP	ENST00000265026.3	37	c.2826C>T	CCDS3270.1																																																																																				0.423	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		117	468	0	0	0	1	0	117	468					T	185200169	C	T	185200169	2	4	79	1	0	0	0	0	0	0	0	1	9288	564	20	2		2	MAP3K13	3	185200169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	185200169	12822261	4907	15224											
TMEM41A	90407	broad.mit.edu	37	chr3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccagatcatgtgtctTttctactgtgtatatgatta	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000421852.1	-	5	880	c.785A>C	c.(784-786)aAa>aCa	p.K262T	TMEM41A_ENST00000296254.3_3'UTR|TMEM41A_ENST00000475480.1_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	262						integral component of membrane (GO:0016021)				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)			TCATGTGTCTTTTCTACTGTG	0.383																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(784-786)aAa>aCa		transmembrane protein 41A							150	140	143					3																	185209335		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185209335T>G	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.785A>C	3.37:g.185209335T>G	ENSP00000406885:p.Lys262Thr					TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000296254.3_3'UTR	p.K262T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	880	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		262					A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	c.785A>C	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964913	0.53507	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.69	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.70275	2.135	0.80722	D	1	P	0.47106	0.89	B	0.40901	0.343	T	0.58994	-0.7537	9	0.72032	D	0.01	-15.9716	9.7811	0.40649	0.0:0.0774:0.0:0.9226	.	262	Q96HV5	TM41A_HUMAN	T	262	.	ENSP00000406885:K262T	K	-	2	0	TMEM41A	186692029	0.997000	0.39634	0.999000	0.59377	0.499000	0.33736	2.946000	0.49050	2.178000	0.69098	0.533000	0.62120	AAA		0.383	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		55	225	0	0	0	1	0	55	225					G	185209335	T	G	185209335	3	3	79	1	0	0	0	0	1	0	0	0	16216	1841	64	4	13	4	TMEM41A	3	185209335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9166	185209335	12813095	4908	15225											
LIPH	200879	broad.mit.edu	37	chr3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgttccatgttataAtatccacaaagtaatgatac	4	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000296252.4	-	8	1145	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	335					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCATGTTATAATATCCACAAA	0.393																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(1003-1005)aTt>aGt		lipase, member H							230	202	211					3																	185232288		2203	4299	6502	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185232288A>C	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1004T>G	3.37:g.185232288A>C	ENSP00000296252:p.Ile335Ser					LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	p.I335S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		8	1145	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		335					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.1004T>G	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927515|1.927515	0.34002|0.34002	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.90504|.	-2.68;-2.58|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.170455|.	0.53938|.	D|.	0.000046|.	T|T	0.64011|0.64011	0.2560|0.2560	M|M	0.72894|0.72894	2.215|2.215	0.32274|0.32274	N|N	0.568493|0.568493	D;D|.	0.63880|.	0.993;0.957|.	P;P|.	0.55455|.	0.776;0.71|.	T|T	0.71820|0.71820	-0.4477|-0.4477	10|5	0.87932|.	D|.	0|.	-13.7778|-13.7778	13.4427|13.4427	0.61123|0.61123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;335|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	S|V	335;301|13	ENSP00000296252:I335S;ENSP00000396384:I301S|.	ENSP00000296252:I335S|.	I|L	-|-	2|1	0|2	LIPH|LIPH	186714982|186714982	0.994000|0.994000	0.37717|0.37717	0.969000|0.969000	0.41365|0.41365	0.254000|0.254000	0.26022|0.26022	6.868000|6.868000	0.75516|0.75516	2.044000|2.044000	0.60594|0.60594	0.379000|0.379000	0.24179|0.24179	ATT|TTA		0.393	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			89	352	0	0	0	1	0	89	352					C	185232288	A	C	185232288	3	2	79	1	0	0	0	0	1	0	0	0	8857	101	4	4	363	4	LIPH	3	185232288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22953	185232288	12790142	4909	15226											
SENP2	59343	broad.mit.edu	37	chr3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttgggcctggtatgtacaGatggctggttaggattctcg	15	7	1	1	rs549095345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	3					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTATGTACAGATGGCTGGTT	0.657																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(7-9)aGa>aAa		SUMO1/sentrin/SMT3 specific peptidase 2							102	104	103					3																	185304209		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185304209G>A	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.8G>A	3.37:g.185304209G>A	ENSP00000296257:p.Arg3Lys					SENP2_ENST00000427465.2_De_novo_Start_InFrame|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron	p.R3K	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		1	248	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		3					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.8G>A	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537215	0.45176	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.21543	2.0	5.02	1.79	0.24919	.	0.147188	0.32068	N	0.006630	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.10377	T	0.69	-8.9996	5.2464	0.15498	0.487:0.0:0.513:0.0	.	3	Q9HC62	SENP2_HUMAN	K	3	ENSP00000296257:R3K	ENSP00000296257:R3K	R	+	2	0	SENP2	186786903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.523000	0.22925	0.550000	0.28991	0.655000	0.94253	AGA		0.657	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		189	780	0	0	0	1	0	189	780					A	185304209	G	A	185304209	3	1	79	1	0	0	0	0	1	0	0	0	14097	942	33	2	10	2	SENP2	3	185304209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71921	185304209	12718221	4910	15227											
IGF2BP2	10644	broad.mit.edu	37	chr3	185407235	185407235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaccaggatccgcagCgggaaatcaatctgtctggc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000457616.2_Silent_p.P201P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	195	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)			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)			GGATCCGCAGCGGGAAATCAA	0.622																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(583-585)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 2							90	93	92					3																	185407235		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:185407235C>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.585G>A	3.37:g.185407235C>T						IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000457616.2_Silent_p.P201P	p.P195P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	680	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		195			KH 1.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.585G>A	CCDS3273.2																																																																																				0.622	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		118	622	0	0	0	1	0	118	622					T	185407235	C	T	185407235	2	4	79	1	0	0	0	0	0	0	0	1	7604	755	27	1		1	IGF2BP2	3	185407235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103026	185407235	12615195	4911	15228											
ETV5	2119	broad.mit.edu	37	chr3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtgcatacctcttccGgttctatcagcttgaactcc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000434744.1_Missense_Mutation_p.P401L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.P443L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	401					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACCTCTTCCGGTTCTATCAG	0.473			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1201-1203)cCg>cTg		ets variant 5							88	85	86					3																	185774871		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185774871G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1202C>T	3.37:g.185774871G>A	ENSP00000306894:p.Pro401Leu					ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	p.P401L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		11	1448	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		401					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1202C>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796945	0.90453	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.58652	0.32;0.32;0.32	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86282	0.1668	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	401;443	P41161;B7Z7D7	ETV5_HUMAN;.	L	401;401;443	ENSP00000306894:P401L;ENSP00000413755:P401L;ENSP00000441737:P443L	ENSP00000306894:P401L	P	-	2	0	ETV5	187257565	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	CCG		0.473	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		39	191	0	0	0	1	0	39	191					A	185774871	G	A	185774871	3	1	79	1	0	0	0	0	1	0	0	0	5300	1116	39	1	342	1	ETV5	3	185774871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367636	185774871	12247559	4912	15229											
DGKG	1608	broad.mit.edu	37	chr3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcatccggcaccacaCgcagtgccgcgcggtgacac	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	367					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1099-1101)Gtg>Atg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						70	56	60					3																	185986607		2203	4300	6503	SO:0001583	missense	1608				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	g.chr3:185986607C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1099G>A	3.37:g.185986607C>T	ENSP00000265022:p.Val367Met					DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M	p.V367M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1638	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		367					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1099G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218901	0.79464	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	4.28	0.50868	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	D	0.90842	0.4724	10	0.56958	D	0.05	.	15.1375	0.72579	0.0:0.8579:0.1421:0.0	.	367;367	P49619-2;P49619	.;DGKG_HUMAN	M	367;367;118	ENSP00000265022:V367M;ENSP00000339777:V367M;ENSP00000395526:V118M	ENSP00000265022:V367M	V	-	1	0	DGKG	187469301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	1.319000	0.45190	0.563000	0.77884	GTG		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			36	169	0	0	0	1	0	36	169					T	185986607	C	T	185986607	3	4	79	1	0	0	0	0	1	0	0	0	4485	536	19	1	1332	1	DGKG	3	185986607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211736	185986607	12035823	4913	15230											
DGKG	1608	broad.mit.edu	37	chr3	185993442	185993442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggcgtgccgcccatcCcccttggagccctgcagggg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185993442C>T	ENST00000265022.3	-	10	1343	c.804G>A	c.(802-804)ggG>ggA	p.G268G	DGKG_ENST00000382164.4_Silent_p.G268G|DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	268					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCGCCCATCCCCCTTGGAGC	0.577																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(802-804)ggG>ggA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						50	48	49					3																	185993442		2203	4300	6503	SO:0001819	synonymous_variant	1608				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	g.chr3:185993442C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.804G>A	3.37:g.185993442C>T						DGKG_ENST00000382164.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000344484.4_Silent_p.G268G	p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	10	1343	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		268					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.804G>A	CCDS3274.1																																																																																				0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			6	220	0	0	0	1	0	6	220					T	185993442	C	T	185993442	2	4	79	1	0	0	0	0	0	0	0	1	4485	610	22	2		2	DGKG	3	185993442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6835	185993442	12028988	4914	15231											
CRYGS	1427	broad.mit.edu	37	chr3	186256636	186256636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctccagcaccttacagGagtggatctctcgcatgtga	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186256636G>A	ENST00000392499.2	-	4	725	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	129	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CACCTTACAGGAGTGGATCTC	0.488																																						ENST00000392499.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(385-387)tCc>tTc		crystallin, gamma S							92	85	87					3																	186256636		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256636G>A		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"crystallin, gamma 8"	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.386C>T	3.37:g.186256636G>A	ENSP00000376287:p.Ser129Phe					CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	4	725	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		129			Beta/gamma crystallin 'Greek key' 3.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.386C>T	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944380	0.92593	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	D;D	0.93426	-3.22;-3.22	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.082064	0.49916	U	0.000131	D	0.98077	0.9366	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98985	1.0806	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	129	P22914	CRBS_HUMAN	F	129	ENSP00000376287:S129F;ENSP00000312099:S129F	ENSP00000312099:S129F	S	-	2	0	CRYGS	187739330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	TCC		0.488	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		6	238	0	0	0	1	0	6	238					A	186256636	G	A	186256636	3	1	79	1	0	0	0	0	1	0	0	0	3928	1174	41	2	154	2	CRYGS	3	186256636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263194	186256636	11765794	4915	15232											
TBCCD1	55171	broad.mit.edu	37	chr3	186272090	186272090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgccagatctgtatcttCtgttctctttgacccagtgc	7	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000424280.1	-	6	1976	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000479590.1_5'UTR	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	499					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1495-1497)caG>caA		TBCC domain containing 1							82	90	87					3																	186272090		2203	4300	6503	SO:0001819	synonymous_variant	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186272090C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1497G>A	3.37:g.186272090C>T						TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000446782.1_Silent_p.Q403Q	p.Q499Q	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1976	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		499					B3KW69|D3DNU6|G5E9J4	Silent	SNP	ENST00000424280.1	37	c.1497G>A	CCDS3276.1																																																																																				0.393	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		129	597	0	0	0	1	0	129	597					T	186272090	C	T	186272090	2	4	79	1	0	0	0	0	0	0	0	1	15684	912	32	2		2	TBCCD1	3	186272090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15454	186272090	11750340	4916	15233											
DNAJB11	51726	broad.mit.edu	37	chr3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgtcggcaagagatgcGgaccacccagctgggccctg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	176					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(526-528)cGg>cAg		DnaJ (Hsp40) homolog, subfamily B, member 11							93	91	91					3																	186299230		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299230G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.527G>A	3.37:g.186299230G>A	ENSP00000414398:p.Arg176Gln					DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q	p.R176Q			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1456	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		176					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.527G>A	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240637	0.58995	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67865	-0.29;-0.29	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.33624	1.015	0.80722	D	1	B	0.27765	0.188	B	0.20184	0.028	T	0.49380	-0.8946	10	0.27082	T	0.32	-15.0608	12.9238	0.58247	0.0784:0.0:0.9216:0.0	.	176	Q9UBS4	DJB11_HUMAN	Q	176	ENSP00000414398:R176Q;ENSP00000265028:R176Q	ENSP00000265028:R176Q	R	+	2	0	DNAJB11	187781924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.467000	0.48044	-0.150000	0.13652	CGG		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			75	448	0	0	0	1	0	75	448					A	186299230	G	A	186299230	3	1	79	1	0	0	0	0	1	0	0	0	4632	1116	39	1	545	1	DNAJB11	3	186299230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27140	186299230	11723200	4917	15234											
DNAJB11	51726	broad.mit.edu	37	chr3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagatcaccaggccaggagCgaagctatggaagaaagggg	15	7	1	2	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(889-891)gCg>gTg		DnaJ (Hsp40) homolog, subfamily B, member 11		C	VAL/ALA	0,4406		0,0,2203	93	88	90		890	6.1	1	3	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJB11	NM_016306.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	297/359	186302256	1,13005	2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302256C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.890C>T	3.37:g.186302256C>T	ENSP00000414398:p.Ala297Val					DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V	p.A297V			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1819	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		297					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.890C>T	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868128	0.91587	0.0	1.16E-4	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.046875	0.85682	D	0.000000	T	0.55353	0.1915	M	0.85630	2.765	0.80722	D	1	P	0.44946	0.846	B	0.43658	0.426	T	0.60281	-0.7294	10	0.48119	T	0.1	-13.9583	18.1573	0.89696	0.0:1.0:0.0:0.0	.	297	Q9UBS4	DJB11_HUMAN	V	297	ENSP00000414398:A297V;ENSP00000265028:A297V	ENSP00000265028:A297V	A	+	2	0	DNAJB11	187784950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GCG		0.448	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			16	252	0	0	0	1	0	16	252					T	186302256	C	T	186302256	3	4	79	1	0	0	0	0	1	0	0	0	4632	768	27	1	924	1	DNAJB11	3	186302256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	186302256	11720174	4918	15235											
AHSG	197	broad.mit.edu	37	chr3	186334294	186334294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagttttccgtggtataCgcaaaatgtgattccagtcc	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000273784.5	+	3	463	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000411641.2_Silent_p.Y129Y	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	129	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(385-387)taC>taT		alpha-2-HS-glycoprotein							121	103	109					3																	186334294		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186334294C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.387C>T	3.37:g.186334294C>T						AHSG_ENST00000273784.5_Silent_p.Y129Y	p.Y129Y			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	3	606	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		129			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.387C>T																																																																																					0.433	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		32	85	0	0	0	1	0	32	85					T	186334294	C	T	186334294	2	4	79	1	0	0	0	0	0	0	0	1	420	547	19	1		1	AHSG	3	186334294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	186334294	11688136	4919	15236											
FETUB	26998	broad.mit.edu	37	chr3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaaagacagaaaggatGgctatgtgctgagactcaac	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000265029.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	59	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAGGATGGCTATGTGCT	0.577																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(175-177)Ggc>Cgc		fetuin B							157	167	163					3																	186358424		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358424G>C	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.175G>C	3.37:g.186358424G>C	ENSP00000265029:p.Gly59Arg					FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R	p.G59R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	1	276	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		59			Cystatin fetuin-B-type 1.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.175G>C	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367130	0.82463	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.51817	1.6;1.6;0.69;0.69	5.26	5.26	0.73747	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.64402	D	0.000008	T	0.74749	0.3757	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.80025	-0.1555	10	0.87932	D	0	-32.4386	15.109	0.72340	0.0:0.0:1.0:0.0	.	59;59;59	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	59	ENSP00000404288:G59R;ENSP00000265029:G59R;ENSP00000371569:G59R;ENSP00000371571:G59R	ENSP00000265029:G59R	G	+	1	0	FETUB	187841118	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	4.938000	0.63519	2.840000	0.97914	0.655000	0.94253	GGC		0.577	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		227	1013	0	0	0	1	0	227	1013					C	186358424	G	C	186358424	3	2	79	1	0	0	0	0	1	0	0	0	5846	1348	47	5	177	5	FETUB	3	186358424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24130	186358424	11664006	4920	15237											
HRG	3273	broad.mit.edu	37	chr3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggcacttaagaaggCgaggcccaggtaaaggaccc	13	12	0	1	rs370685538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.001					ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1321-1323)Cga>Tga		histidine-rich glycoprotein		C	stop/ARG	0,4406		0,0,2203	69	62	64		1321	2.4	0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HRG	NM_000412.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		441/526	186395415	1,13005	2203	4300	6503	SO:0001587	stop_gained	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395415C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1321C>T	3.37:g.186395415C>T	ENSP00000232003:p.Arg441*						p.R441*	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1401	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		441			His/Pro-rich (HRR).		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	37	c.1321C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676245	0.47886	0.0	1.16E-4	ENSG00000113905	ENST00000232003	.	.	.	4.88	2.37	0.29283	.	0.270380	0.26590	N	0.023525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8229	8.8476	0.35179	0.6:0.4:0.0:0.0	.	.	.	.	X	441	.	ENSP00000232003:R441X	R	+	1	2	HRG	187878109	0.002000	0.14202	0.035000	0.18076	0.002000	0.02628	0.913000	0.28611	1.016000	0.39470	-0.410000	0.06199	CGA		0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		77	284	0	0	0	1	0	77	284					T	186395415	C	T	186395415	4	4	79	1	0	0	0	0	0	1	0	0	7384	760	27	1	1347	1	HRG	3	186395415	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36991	186395415	11627015	4921	15238											
EIF4A2	1974	broad.mit.edu	37	chr3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggattgatgtgcaacaaGtgtctttggttataaattat	11	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	342	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"eukaryotic translation initiation factor 4A, isoform 2"			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(1024-1026)Gtg>Atg		eukaryotic translation initiation factor 4A2							94	95	95					3																	186505616		2203	4299	6502	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186505616G>A	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1024G>A	3.37:g.186505616G>A	ENSP00000326381:p.Val342Met					EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M	p.V342M			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	10	1088	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		342			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.1024G>A	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759885	0.89932	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.09350	2.99;2.99;2.99	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	H	0.99249	4.485	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.965;0.952;0.971	T	0.74140	-0.3761	10	0.87932	D	0	.	17.0851	0.86609	0.0:0.0:1.0:0.0	.	247;343;342	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	M	342;343;247	ENSP00000326381:V342M;ENSP00000398370:V343M;ENSP00000348925:V247M	ENSP00000326381:V342M	V	+	1	0	EIF4A2	187988310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.344000	0.97050	2.709000	0.92574	0.563000	0.77884	GTG		0.368	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		78	303	0	0	0	1	0	78	303					A	186505616	G	A	186505616	3	1	79	1	0	0	0	0	1	0	0	0	5043	1029	36	2	1062	2	EIF4A2	3	186505616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110201	186505616	11516814	4922	15239											
ST6GAL1	6480	broad.mit.edu	37	chr3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttcctcccatccaagCgcaagactgacgtgtgctac	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	348					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1042-1044)Cgc>Tgc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							148	121	130					3																	186793412		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793412C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1042C>T	3.37:g.186793412C>T	ENSP00000169298:p.Arg348Cys					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C	p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1716	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		348					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1042C>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415624	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.32988	1.43;1.43;1.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73858	-0.3850	10	0.87932	D	0	-7.2879	17.8009	0.88586	0.0:1.0:0.0:0.0	.	348	P15907	SIAT1_HUMAN	C	348;117;348	ENSP00000169298:R348C;ENSP00000412221:R117C;ENSP00000389337:R348C	ENSP00000169298:R348C	R	+	1	0	ST6GAL1	188276106	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.321000	0.33678	2.884000	0.98904	0.655000	0.94253	CGC		0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		58	248	0	0	0	1	0	58	248					T	186793412	C	T	186793412	3	4	79	1	0	0	0	0	1	0	0	0	15273	768	27	1	1060	1	ST6GAL1	3	186793412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287796	186793412	11229018	4923	15240											
RTP1	132112	broad.mit.edu	37	chr3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttgttttgggccacgGtcctgctgctgatcatctac	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	248					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCCACGGTCCTGCTGCT	0.597																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(742-744)Gtc>Atc		receptor (chemosensory) transporter protein 1							92	86	88					3																	186917808		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917808G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.742G>A	3.37:g.186917808G>A	ENSP00000311712:p.Val248Ile					RP11-208N14.4_ENST00000356133.3_RNA	p.V248I	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	772	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		248						Missense_Mutation	SNP	ENST00000312295.4	37	c.742G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946158	0.53079	.	.	ENSG00000175077	ENST00000312295	T	0.22539	1.95	5.74	5.74	0.90152	.	0.094831	0.45606	D	0.000347	T	0.15998	0.0385	N	0.24115	0.695	0.28188	N	0.927894	B	0.09022	0.002	B	0.09377	0.004	T	0.08027	-1.0742	10	0.30078	T	0.28	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	248	P59025	RTP1_HUMAN	I	248	ENSP00000311712:V248I	ENSP00000311712:V248I	V	+	1	0	RTP1	188400502	0.851000	0.29673	0.992000	0.48379	0.995000	0.86356	2.129000	0.42055	2.723000	0.93209	0.655000	0.94253	GTC		0.597	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		15	569	0	0	0	1	0	15	569					A	186917808	G	A	186917808	3	1	79	1	0	0	0	0	1	0	0	0	13783	1261	44	2	748	2	RTP1	3	186917808	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124396	186917808	11104622	4924	15241											
MASP1	5648	broad.mit.edu	37	chr3	186953477	186953477	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtaagtcagctcaccGttccacctggggctccacaa	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186953477G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.R615W|MASP1_ENST00000495249.1_5'Flank|MASP1_ENST00000296280.6_Missense_Mutation_p.R728W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCAGCTCACCGTTCCACCTGG	0.542																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2182-2184)Cgg>Tgg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							86	76	80					3																	186953477		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186953477G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5791C>T	3.37:g.186953477G>A						MASP1_ENST00000392472.2_Missense_Mutation_p.R615W|MASP1_ENST00000337774.5_Intron	p.R728W	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	2407	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		0					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.2182C>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755415	0.49362	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541811	D;D	0.83250	-1.68;-1.7	6.16	5.29	0.74685	.	0.376195	0.22804	N	0.055430	T	0.79604	0.4474	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.80167	-0.1495	10	0.87932	D	0	.	7.4791	0.27393	0.0809:0.0:0.7417:0.1774	.	615;728	P48740-4;P48740-2	.;.	W	728;615;82	ENSP00000296280:R728W;ENSP00000376264:R615W	ENSP00000296280:R728W	R	-	1	2	MASP1	188436171	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.036000	0.49767	2.937000	0.99478	0.650000	0.86243	CGG		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		59	261	0	0	0	1	0	59	261					A	186953477	G	A	186953477	1	1	79	0	1	0	0	0	0	0	0	0	9363	1144	40	1		1	MASP1	3	186953477	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35669	186953477	11068953	4925	15242											
MASP1	5648	broad.mit.edu	37	chr3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacttttacaggtgggaAtcttgttactccacgtccca	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000337774.5	-	8	1465	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	359	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGGTGGGAATCTTGTTACT	0.488																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1075-1077)aTt>aGt		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							200	203	202					3																	186968053		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186968053A>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1076T>G	3.37:g.186968053A>C	ENSP00000336792:p.Ile359Ser					MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S	p.I359S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	8	1465	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		359			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1076T>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541866	0.45280	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.282017	0.39475	N	0.001342	T	0.57475	0.2056	L	0.47716	1.5	0.37569	D	0.919358	B;B;B;B;B	0.33345	0.062;0.001;0.387;0.409;0.023	B;B;B;B;B	0.35859	0.062;0.026;0.212;0.099;0.073	T	0.60281	-0.7294	10	0.27785	T	0.31	.	15.1457	0.72650	1.0:0.0:0.0:0.0	.	333;359;246;359;359	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	S	359;359;246;246;359;333	ENSP00000336792:I359S;ENSP00000296280:I359S;ENSP00000376264:I246S;ENSP00000169293:I359S;ENSP00000376262:I333S	ENSP00000169293:I359S	I	-	2	0	MASP1	188450747	0.979000	0.34478	0.941000	0.38009	0.983000	0.72400	5.135000	0.64777	2.174000	0.68829	0.533000	0.62120	ATT		0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		143	763	0	0	0	1	0	143	763					C	186968053	A	C	186968053	3	2	79	1	0	0	0	0	1	0	0	0	9363	101	4	4	2004	4	MASP1	3	186968053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14576	186968053	11054377	4926	15243											
MASP1	5648	broad.mit.edu	37	chr3	187009414	187009414	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctcccctggcacgtAcctcattttcctgccttggg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGGCACGTACCTCATTTTC	0.607																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.e1+1		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							141	111	121					3																	187009414		2203	4300	6503	SO:0001630	splice_region_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:187009414A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.5+1T>C	3.37:g.187009414A>G						MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000169293.6_Splice_Site		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	1	395	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)							A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	SNP	ENST00000337774.5	37		CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353985	0.41700	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475	.	.	.	5.86	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2095	0.48790	0.8464:0.1536:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP1	188492108	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.105000	0.64591	1.020000	0.39573	0.460000	0.39030	.		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	Intron	73	381	0	0	0	1	0	73	381					G	187009414	A	G	187009414	5	3	79	1	0	0	0	0	0	0	1	0	9363	405	14	4	3101	4	MASP1	3	187009414	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41361	187009414	11013016	4927	15244											
RTP4	64108	broad.mit.edu	37	chr3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgaagttgggcttccGcccaagtgcagattctgtgc	13	12	1	1	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	65					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCTTCCGCCCAAGTGCA	0.552													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0					ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(193-195)Gcc>Acc		receptor (chemosensory) transporter protein 4		G	THR/ALA	27,4379	33.5+/-64.1	0,27,2176	53	47	49		193	3	0.2	3	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RTP4	NM_022147.2	58	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	probably-damaging	65/247	187088613	29,12977	2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187088613G>A	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.193G>A	3.37:g.187088613G>A	ENSP00000259030:p.Ala65Thr						p.A65T	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	303	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		65					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.193G>A	CCDS33910.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.44	2.237428	0.39498	0.006128	2.33E-4	ENSG00000136514	ENST00000259030	T	0.24350	1.86	3.89	3.0	0.34707	.	0.167493	0.52532	D	0.000073	T	0.40473	0.1118	M	0.82823	2.61	0.21290	N	0.999739	D	0.89917	1.0	D	0.78314	0.991	T	0.19386	-1.0307	10	0.45353	T	0.12	-19.4826	8.8881	0.35416	0.0:0.0:0.7776:0.2224	.	65	Q96DX8	RTP4_HUMAN	T	65	ENSP00000259030:A65T	ENSP00000259030:A65T	A	+	1	0	RTP4	188571307	0.942000	0.31987	0.177000	0.23020	0.036000	0.12997	5.311000	0.65786	1.213000	0.43380	0.655000	0.94253	GCC		0.552	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		9	154	0	0	0	1	0	9	154					A	187088613	G	A	187088613	3	1	79	1	0	0	0	0	1	0	0	0	13786	1087	38	1	199	1	RTP4	3	187088613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79199	187088613	10933817	4928	15245											
SST	6750	broad.mit.edu	37	chr3	187386922	187386922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcggggtgccatagcCgggtttgagttagcagatct	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(280-282)ccG>ccA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						215	210	212					3																	187386922		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386922C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.282G>A	3.37:g.187386922C>T							p.P94P	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	389	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		94					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.282G>A	CCDS3288.1																																																																																				0.493	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		246	1036	0	0	0	1	0	246	1036					T	187386922	C	T	187386922	2	4	79	1	0	0	0	0	0	0	0	1	15248	639	23	1		1	SST	3	187386922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298309	187386922	10635508	4929	15246											
SST	6750	broad.mit.edu	37	chr3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttagcagatctctgcagcTcaagcctcatttcatcctgc	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	85					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(253-255)gAg>gCg		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						257	242	247					3																	187386950		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386950T>G		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.254A>C	3.37:g.187386950T>G	ENSP00000287641:p.Glu85Ala						p.E85A	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	361	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		85					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.254A>C	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344256	0.82022	.	.	ENSG00000157005	ENST00000287641	T	0.38887	1.11	5.51	5.51	0.81932	.	0.090474	0.85682	D	0.000000	T	0.66237	0.2769	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.71234	-0.4653	10	0.72032	D	0.01	1.252	14.8038	0.69935	0.0:0.0:0.0:1.0	.	85	P61278	SMS_HUMAN	A	85	ENSP00000287641:E85A	ENSP00000287641:E85A	E	-	2	0	SST	188869644	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.698000	0.84413	2.092000	0.63282	0.254000	0.18369	GAG		0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		304	1179	0	0	0	1	0	304	1179					G	187386950	T	G	187386950	3	3	79	1	0	0	0	0	1	0	0	0	15248	1551	54	4	100	4	SST	3	187386950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	187386950	10635480	4930	15247											
SST	6750	broad.mit.edu	37	chr3	187387999	187387999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgacggagtctggggtcCgagggagcgccggtgacaca	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	27					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(79-81)tcG>tcA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						22	21	21					3																	187387999		2199	4298	6497	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387999C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.81G>A	3.37:g.187387999C>T							p.S27S	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	1	188	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		27					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.81G>A	CCDS3288.1																																																																																				0.682	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		12	45	0	0	0	1	0	12	45					T	187387999	C	T	187387999	2	4	79	1	0	0	0	0	0	0	0	1	15248	639	23	1		1	SST	3	187387999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049	187387999	10634431	4931	15248											
BCL6	604	broad.mit.edu	37	chr3	187449609	187449609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattgagccgagatgtgtAcatgaagtccaggaggatgc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187449609A>G	ENST00000406870.2	-	4	637	c.271T>C	c.(271-273)Tac>Cac	p.Y91H	BCL6_ENST00000450123.2_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGAGATGTGTACATGAAGTCC	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(271-273)Tac>Cac		B-cell CLL/lymphoma 6							114	94	101					3																	187449609		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187449609A>G		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.271T>C	3.37:g.187449609A>G	ENSP00000384371:p.Tyr91His					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.Y91H|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H	p.Y91H	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	637	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		91			BTB.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.271T>C	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752661	0.89753	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.65	5.65	0.86999	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97740	1.0208	10	0.87932	D	0	.	15.364	0.74507	1.0:0.0:0.0:0.0	.	91;91	B8PSA7;P41182	.;BCL6_HUMAN	H	91	ENSP00000384371:Y91H;ENSP00000232014:Y91H;ENSP00000413122:Y91H;ENSP00000415574:Y91H;ENSP00000414455:Y91H	ENSP00000232014:Y91H	Y	-	1	0	BCL6	188932303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.288000	0.76882	0.482000	0.46254	TAC		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		13	285	0	0	0	1	0	13	285					G	187449609	A	G	187449609	3	3	79	1	0	0	0	0	1	0	0	0	1377	391	14	4	1877	4	BCL6	3	187449609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61610	187449609	10572821	4932	15249											
LPP	4026	broad.mit.edu	37	chr3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccttcatcaggacaaatTtatggctcagggccccaggg	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	243	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CAGGACAAATTTATGGCTCAG	0.542			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(727-729)atT>atG		LIM domain containing preferred translocation partner in lipoma							51	53	52					3																	188327248		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327248T>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.729T>G	3.37:g.188327248T>G	ENSP00000318089:p.Ile243Met					LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.I243M	p.I243M	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	975	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	243			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.729T>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	6.607	0.480433	0.12581	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.96;0.54;0.54;1.55	5.53	-7.67	0.01272	.	1.058050	0.07175	N	0.853006	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16571	-1.0398	10	0.32370	T	0.25	.	6.1723	0.20424	0.0646:0.2069:0.1644:0.5642	.	243;243	C9JUT4;Q93052	.;LPP_HUMAN	M	243;243;243;80	ENSP00000393602:I243M;ENSP00000318089:I243M;ENSP00000438891:I243M;ENSP00000393008:I80M	ENSP00000318089:I243M	I	+	3	3	LPP	189809942	0.000000	0.05858	0.003000	0.11579	0.708000	0.40852	-1.016000	0.03633	-1.366000	0.02155	-0.747000	0.03512	ATT		0.542	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		72	272	0	0	0	1	0	72	272					G	188327248	T	G	188327248	3	3	79	1	0	0	0	0	1	0	0	0	8961	1829	64	4	743	4	LPP	3	188327248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	877639	188327248	9695182	4933	15250											
LPP	4026	broad.mit.edu	37	chr3	188584050	188584050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggattctccgagccacCgggaaggcctatcatcctca	11	14	3	0	rs138205223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCGAGCCACCGGGAAGGCCT	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20418	0.0		0.0	False		,,,				2504	0.0					ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1471-1473)acC>acT		LIM domain containing preferred translocation partner in lipoma		C	,,	2,4404	4.2+/-10.8	0,2,2201	172	146	155		1473,1032,1473	-6.2	0.9	3	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	491/613,344/466,491/613	188584050	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584050C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1473C>T	3.37:g.188584050C>T						LPP_ENST00000543006.1_Silent_p.T491T	p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1719	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	491			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1473C>T	CCDS3291.1																																																																																				0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		53	348	0	0	0	1	0	53	348					T	188584050	C	T	188584050	2	4	79	1	0	0	0	0	0	0	0	1	8961	639	23	1		1	LPP	3	188584050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256802	188584050	9438380	4934	15251											
LPP	4026	broad.mit.edu	37	chr3	188590548	188590548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttcactgctaccgatgCgaggtctggttgacagccct	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCTACCGATGCGAGGTCTGGT	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1705-1707)tgC>tgT		LIM domain containing preferred translocation partner in lipoma							92	70	77					3																	188590548		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590548C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1707C>T	3.37:g.188590548C>T						LPP_ENST00000543006.1_Silent_p.C569C	p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1953	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	569			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1707C>T	CCDS3291.1																																																																																				0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		53	172	0	0	0	1	0	53	172					T	188590548	C	T	188590548	2	4	79	1	0	0	0	0	0	0	0	1	8961	776	27	1		1	LPP	3	188590548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6498	188590548	9431882	4935	15252											
TPRG1	285386	broad.mit.edu	37	chr3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaagttccttatgctActttcactgagcatcctatg	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	193						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(577-579)Act>Gct		tumor protein p63 regulated 1							98	94	96					3																	189028272		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028272A>G	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.577A>G	3.37:g.189028272A>G	ENSP00000341031:p.Thr193Ala					TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	5	744	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	193						Missense_Mutation	SNP	ENST00000345063.3	37	c.577A>G	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579318|4.579318	0.86645|0.86645	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000345063|ENST00000425670	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75715|0.75715	0.3887|0.3887	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.76658|0.76658	-0.2878|-0.2878	9|5	0.72032|.	D|.	0.01|.	-19.4379|-19.4379	15.0311|15.0311	0.71708|0.71708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193|.	Q6ZUI0|.	TPRG1_HUMAN|.	A|C	193|120	.|.	ENSP00000341031:T193A|.	T|Y	+|+	1|2	0|0	TPRG1|TPRG1	190510966|190510966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	6.849000|6.849000	0.75414|0.75414	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	ACT|TAC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		75	390	0	0	0	1	0	75	390					G	189028272	A	G	189028272	3	3	79	1	0	0	0	0	1	0	0	0	16471	391	14	4	591	4	TPRG1	3	189028272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	437724	189028272	8994158	4936	15253											
TP63	8626	broad.mit.edu	37	chr3	189349340	189349340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtgccaccctacaGtactgccctgacccttacat	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349340G>A	ENST00000264731.3	+	1	125	c.36G>A	c.(34-36)caG>caA	p.Q12Q	TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000392460.3_Silent_p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	12	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCCTACAGTACTGCCCTG	0.383										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(34-36)caG>caA		tumor protein p63							175	163	167					3																	189349340		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349340G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.36G>A	3.37:g.189349340G>A		HNSCC(45;0.13)				TP63_ENST00000392460.3_Silent_p.Q12Q|TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q	p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	125	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		12			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.36G>A	CCDS3293.1																																																																																				0.383	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		127	681	0	0	0	1	0	127	681					A	189349340	G	A	189349340	2	1	79	1	0	0	0	0	0	0	0	1	16445	1020	36	2		2	TP63	3	189349340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321068	189349340	8673090	4937	15254											
TP63	8626	broad.mit.edu	37	chr3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgacccttacatccaGcggtgagtttgaatgtgaca	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(58-60)caG>caT		tumor protein p63							168	154	159					3																	189349364		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349364G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.60G>T	3.37:g.189349364G>T	ENSP00000264731:p.Gln20His	HNSCC(45;0.13)				TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H	p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	149	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		20			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.60G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531329	0.27387	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99680	-6.0;-6.27;-6.23;-6.24;-6.0;-6.38	5.72	5.72	0.89469	.	0.411940	0.24076	N	0.041763	D	0.97763	0.9266	N	0.08118	0	0.80722	D	1	P;P;B;P	0.41848	0.763;0.523;0.34;0.523	B;B;B;B	0.41088	0.24;0.24;0.121;0.347	D	0.98181	1.0457	9	.	.	.	-6.671	12.2156	0.54404	0.0772:0.0:0.9228:0.0	.	20;20;20;20	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	H	20	ENSP00000264731:Q20H;ENSP00000407144:Q20H;ENSP00000317510:Q20H;ENSP00000376253:Q20H;ENSP00000394337:Q20H;ENSP00000371495:Q20H	.	Q	+	3	2	TP63	190832058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.350000	0.52224	2.695000	0.91970	0.655000	0.94253	CAG		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		110	611	1	0	1.93806e-58	1	2.4311e-58	110	611					T	189349364	G	T	189349364	3	4	79	1	0	0	0	0	1	0	0	0	16445	962	34	3	62	3	TP63	3	189349364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	189349364	8673066	4938	15255											
TP63	8626	broad.mit.edu	37	chr3	189597951	189597951	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattccaagcccccaaaccGatcagtgtacccatagagcc	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189597951G>A	ENST00000264731.3	+	11	1438				TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000440651.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.R483Q|TP63_ENST00000392460.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCCAAACCGATCAGTGTAC	0.453										HNSCC(45;0.13)																												ENST00000418709.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1447-1449)cGa>cAa		tumor protein p63							104	96	99					3																	189597951		1568	3582	5150	SO:0001627	intron_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189597951G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1350-6232G>A	3.37:g.189597951G>A		HNSCC(45;0.13)				TP63_ENST00000449992.1_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000392461.3_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000382063.4_Intron	p.R483Q	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1476	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		0					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1448G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183900	0.38609	.	.	ENSG00000073282	ENST00000418709;ENST00000437221	D;D	0.99680	-6.35;-6.38	5.79	2.15	0.27550	.	.	.	.	.	D	0.98074	0.9365	.	.	.	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.17979	0.003;0.02	D	0.97189	0.9856	7	.	.	.	.	6.8668	0.24098	0.2163:0.3309:0.4529:0.0	.	389;483	Q9H3D4-6;Q9H3D4-5	.;.	Q	483;389	ENSP00000407144:R483Q;ENSP00000392488:R389Q	.	R	+	2	0	TP63	191080645	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.536000	0.23129	0.512000	0.28257	0.655000	0.94253	CGA		0.453	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		68	279	0	0	0	1	0	68	279					A	189597951	G	A	189597951	1	1	79	0	1	0	0	0	0	0	0	0	16445	1058	37	1		1	TP63	3	189597951	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248587	189597951	8424479	4939	15256											
LEPREL1	55214	broad.mit.edu	37	chr3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgattctcatcctgtcGtcctccatatctgatccaat	4	14	2	1	rs377600857		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	405					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1213-1215)Cga>Tga		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	151	142	145		670,1213	4	1	3		145	0,8600		0,0,4300	no	stop-gained,stop-gained	LEPREL1	NM_001134418.1,NM_018192.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	224/528,405/709	189702355	1,13005	2203	4300	6503	SO:0001587	stop_gained	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189702355G>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1213C>T	3.37:g.189702355G>A	ENSP00000316881:p.Arg405*					LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	p.R405*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	7	1410	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		405					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	ENST00000319332.5	37	c.1213C>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	40	8.249713	0.98727	2.27E-4	0.0	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	4.0	0.46444	.	0.167866	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0519	14.1829	0.65586	0.0:0.0:0.7279:0.272	.	.	.	.	X	405;224	.	.	R	-	1	2	LEPREL1	191185049	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.045000	0.49838	1.477000	0.48234	0.655000	0.94253	CGA		0.313	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		50	238	0	0	0	1	0	50	238					A	189702355	G	A	189702355	4	1	79	1	0	0	0	0	0	1	0	0	8761	1153	40	1	949	1	LEPREL1	3	189702355	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104404	189702355	8320075	4940	15257											
IL1RAP	3556	broad.mit.edu	37	chr3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcataaactgtatatagaaTatggcattcagaggatcact	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	153	Ig-like C2-type 2.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATATAGAATATGGCATTCA	0.378																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(457-459)Tat>Cat		interleukin 1 receptor accessory protein							109	107	107					3																	190326890		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190326890T>C	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.457T>C	3.37:g.190326890T>C	ENSP00000412053:p.Tyr153His					IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H	p.Y153H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	4	709	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		153			Ig-like C2-type 2.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.457T>C	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547035	0.04024	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.08984	5.29;4.99;5.29;5.29;5.29;3.22;3.03;3.22;4.99	5.58	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.236230	0.05267	N	0.516779	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.43686	-0.9376	10	0.19147	T	0.46	.	3.3556	0.07168	0.1005:0.3567:0.3054:0.2374	.	12;153;153;153	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	H	153;153;153;153;153;153;12;153;153	ENSP00000072516:Y153H;ENSP00000408893:Y153H;ENSP00000412053:Y153H;ENSP00000401132:Y153H;ENSP00000390541:Y153H;ENSP00000409352:Y153H;ENSP00000391899:Y12H;ENSP00000387371:Y153H;ENSP00000314807:Y153H	ENSP00000072516:Y153H	Y	+	1	0	IL1RAP	191809584	0.551000	0.26497	0.025000	0.17156	0.060000	0.15804	-0.245000	0.08890	-0.731000	0.04862	-0.263000	0.10527	TAT		0.378	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			70	333	0	0	0	1	0	70	333					C	190326890	T	C	190326890	3	2	79	1	0	0	0	0	1	0	0	0	7690	1406	49	4	467	4	IL1RAP	3	190326890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624535	190326890	7695540	4941	15258											
IL1RAP	3556	broad.mit.edu	37	chr3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctctgaggatctcaagcGcagctatgtctgtcatgcta	9	11	4	1	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	328	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATCTCAAGCGCAGCTATGTC	0.418																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(982-984)cGc>cAc		interleukin 1 receptor accessory protein		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	80	74	76		983,983,983,983,983,983	4.8	1	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/571,328/571,328/357,328/688,328/571,328/357	190347219	1,13005	2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190347219G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.983G>A	3.37:g.190347219G>A	ENSP00000412053:p.Arg328His					IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H	p.R328H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1235	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		328			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.983G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560049|3.560049	0.65538|0.65538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.14022	.|2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.7|5.7	4.83|4.83	0.62350|0.62350	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.117788	.|0.64402	.|N	.|0.000018	T|T	0.31199|0.31199	0.0789|0.0789	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.998;0.987;0.996	T|T	0.11131|0.11131	-1.0600|-1.0600	5|10	.|0.13853	.|T	.|0.58	.|.	12.3332|12.3332	0.55051|0.55051	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|187;328;328;328	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	165|328;328;328;328;328;328;187;328;328	.|ENSP00000072516:R328H;ENSP00000408893:R328H;ENSP00000412053:R328H;ENSP00000401132:R328H;ENSP00000390541:R328H;ENSP00000409352:R328H;ENSP00000391899:R187H;ENSP00000387371:R328H;ENSP00000314807:R328H	.|ENSP00000072516:R328H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191829913|191829913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.030000|3.030000	0.49720|0.49720	1.431000|1.431000	0.47355|0.47355	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.418	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			34	125	0	0	0	1	0	34	125					A	190347219	G	A	190347219	3	1	79	1	0	0	0	0	1	0	0	0	7690	1087	38	1	1009	1	IL1RAP	3	190347219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20329	190347219	7675211	4942	15259											
UTS2D	257313	broad.mit.edu	37	chr3	190993101	190993101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggacgtctcagaatcctTctcctccactagctgttctt	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190993101T>C	ENST00000340524.5	-	8	1060	c.274A>G	c.(274-276)Aag>Gag	p.K92E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K92E	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	92					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											TCAGAATCCTTCTCCTCCACT	0.393																																						ENST00000340524.5																			0											c.(274-276)Aag>Gag		urotensin 2B							176	172	173					3																	190993101		2203	4300	6503	SO:0001583	missense	257313							g.chr3:190993101T>C	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"Endogenous ligands"	30894	protein-coding gene	gene with protein product	"prepro-URP"		"urotensin 2 domain containing"	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.274A>G	3.37:g.190993101T>C	ENSP00000340526:p.Lys92Glu					UTS2B_ENST00000427544.2_Missense_Mutation_p.K92E	p.K92E	NM_198152.3	NP_937795.2					8	1060	-								B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.274A>G	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115118	0.06881	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.46451	0.87;0.87	4.62	4.62	0.57501	.	0.264466	0.26362	N	0.024819	T	0.36496	0.0969	L	0.49350	1.555	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	T	0.21042	-1.0257	10	0.25106	T	0.35	-10.4503	10.3543	0.43954	0.0:0.0:0.0:1.0	.	92	Q765I0	UTS2B_HUMAN	E	92	ENSP00000340526:K92E;ENSP00000398761:K92E	ENSP00000340526:K92E	K	-	1	0	UTS2D	192475795	0.024000	0.19004	0.007000	0.13788	0.109000	0.19521	1.901000	0.39838	1.935000	0.56089	0.383000	0.25322	AAG		0.393	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		132	511	0	0	0	1	0	132	511					C	190993101	T	C	190993101	3	2	79	1	0	0	0	0	1	0	0	0	17159	1792	62	4	93	4	UTS2D	3	190993101	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	645882	190993101	7029329	4943	15260											
FGF12	2257	broad.mit.edu	37	chr3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtcccagaaaccaagctCggcctgattcttgctggcgg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000454309.2	-	4	1337	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_ENST00000445105.2_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	171					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAACCAAGCTCGGCCTGATTC	0.413																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(511-513)cGa>cAa		fibroblast growth factor 12							212	216	214					3																	191888348		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888348C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.512G>A	3.37:g.191888348C>T	ENSP00000413496:p.Arg171Gln					FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000445105.1_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q	p.R171Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1337	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	171					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.512G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276014	0.95459	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92922	0.6356	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	109;171	P61328-2;P61328	.;FGF12_HUMAN	Q	109;109;109;171;66;109;72;85	ENSP00000264730:R109Q;ENSP00000393686:R109Q;ENSP00000413496:R171Q;ENSP00000400948:R66Q;ENSP00000397635:R109Q;ENSP00000410125:R72Q;ENSP00000412904:R85Q	ENSP00000264730:R109Q	R	-	2	0	FGF12	193371042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.578000	0.49821	0.655000	0.94253	CGA		0.413	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		238	912	0	0	0	1	0	238	912					T	191888348	C	T	191888348	3	4	79	1	0	0	0	0	1	0	0	0	5866	884	31	1	227	1	FGF12	3	191888348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	895247	191888348	6134082	4944	15261											
C3orf59	151963	broad.mit.edu	37	chr3	192516274	192516274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttctcagtcactagctgCtgcagtttttttgccaaacg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192516274C>T	ENST00000392452.2	-	2	1697	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	459							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCACTAGCTGCTGCAGTTTTT	0.512																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1375-1377)caG>caA		Mab-21 domain containing 2							109	114	112					3																	192516274		2203	4300	6503	SO:0001819	synonymous_variant	151963							g.chr3:192516274C>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1377G>A	3.37:g.192516274C>T							p.Q459Q	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1697	-			459					Q86VD8	Silent	SNP	ENST00000392452.2	37	c.1377G>A	CCDS3302.2																																																																																				0.512	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		22	768	0	0	0	1	0	22	768					T	192516274	C	T	192516274	2	4	79	1	0	0	0	0	0	0	0	1	2244	796	28	2		2	C3orf59	3	192516274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	627926	192516274	5506156	4945	15262											
HRASLS	57110	broad.mit.edu	37	chr3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcccaggggacttgatcGaagtgttccgtcctggctat	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000602513.1	+	2	473	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	HRASLS_ENST00000264735.2_Missense_Mutation_p.E127K			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478																																						ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(379-381)Gaa>Aaa		HRAS-like suppressor							185	171	176					3																	192973503		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192973503G>A	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.64G>A	3.37:g.192973503G>A	ENSP00000473258:p.Glu22Lys					HRASLS_ENST00000602513.1_Missense_Mutation_p.E22K	p.E127K	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	2	473	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		22					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.302243	0.95601	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85977	0.1480	9	0.87932	D	0	-1.7689	18.5869	0.91192	0.0:0.0:1.0:0.0	.	22	Q9HDD0	HRSL1_HUMAN	K	22	.	ENSP00000264735:E22K	E	+	1	0	HRASLS	194456197	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.963000	0.93385	2.868000	0.98415	0.557000	0.71058	GAA		0.478	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				132	650	0	0	0	1	0	132	650					A	192973503	G	A	192973503	3	1	79	1	0	0	0	0	1	0	0	0	7379	1059	37	1	66	1	HRASLS	3	192973503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457229	192973503	5048927	4946	15263											
ATP13A5	344905	broad.mit.edu	37	chr3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaagattccccatctTtaaggttttgtgggcaagag	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1996-1998)Aag>Gag		ATPase type 13A5							140	141	141					3																	193036817		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193036817T>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1996A>G	3.37:g.193036817T>C	ENSP00000341942:p.Lys666Glu						p.K666E	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	17	2113	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		666					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1996A>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678550	0.00751	.	.	ENSG00000187527	ENST00000342358	T	0.69561	-0.41	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.607321	0.17170	N	0.184335	T	0.35038	0.0918	N	0.02296	-0.605	0.09310	N	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.27938	-1.0059	10	0.02654	T	1	-2.4489	8.7358	0.34528	0.0:0.0835:0.0:0.9165	.	666	Q4VNC0	AT135_HUMAN	E	666	ENSP00000341942:K666E	ENSP00000341942:K666E	K	-	1	0	ATP13A5	194519511	0.372000	0.25064	0.047000	0.18901	0.004000	0.04260	1.395000	0.34520	2.251000	0.74343	0.533000	0.62120	AAG		0.498	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		127	549	0	0	0	1	0	127	549					C	193036817	T	C	193036817	3	2	79	1	0	0	0	0	1	0	0	0	1128	1850	64	4	1714	4	ATP13A5	3	193036817	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63314	193036817	4985613	4947	15264											
ATP13A5	344905	broad.mit.edu	37	chr3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagttcctgtgggaaattCttgggcactgccagggtaga	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	641						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1921-1923)aaG>aaT		ATPase type 13A5							132	135	134					3																	193036890		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193036890C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1923G>T	3.37:g.193036890C>A	ENSP00000341942:p.Lys641Asn						p.K641N	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	17	2040	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		641					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1923G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	6.096	0.385934	0.11524	.	.	ENSG00000187527	ENST00000342358	T	0.70869	-0.52	5.73	1.42	0.22433	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.269670	0.05084	N	0.484003	T	0.55878	0.1948	N	0.25647	0.755	0.22745	N	0.99878	B	0.27264	0.173	B	0.29440	0.102	T	0.39187	-0.9626	10	0.20046	T	0.44	-5.0747	4.883	0.13688	0.0:0.563:0.1789:0.2581	.	641	Q4VNC0	AT135_HUMAN	N	641	ENSP00000341942:K641N	ENSP00000341942:K641N	K	-	3	2	ATP13A5	194519584	0.001000	0.12720	0.848000	0.33437	0.524000	0.34500	-0.266000	0.08631	0.255000	0.21593	0.655000	0.94253	AAG		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		142	538	1	0	5.39599e-84	1	6.91194e-84	142	538					A	193036890	C	A	193036890	3	1	79	1	0	0	0	0	1	0	0	0	1128	912	32	3	1787	3	ATP13A5	3	193036890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	193036890	4985540	4948	15265											
ATP13A5	344905	broad.mit.edu	37	chr3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagactcaccagttcatcCtcctctccctggttgagcaa	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(52-54)gaG>gaT		ATPase type 13A5							174	160	165					3																	193096461		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193096461C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.54G>T	3.37:g.193096461C>A	ENSP00000341942:p.Glu18Asp						p.E18D	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	1	171	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		18					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.54G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567558	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.51071	2.2;0.72	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000028	T	0.30386	0.0763	N	0.25380	0.74	0.33589	D	0.600871	B	0.24618	0.107	B	0.27262	0.078	T	0.26258	-1.0108	10	0.10111	T	0.7	-11.1331	9.829	0.40930	0.2044:0.7956:0.0:0.0	.	18	Q4VNC0	AT135_HUMAN	D	18	ENSP00000341942:E18D;ENSP00000389416:E18D	ENSP00000341942:E18D	E	-	3	2	ATP13A5	194579155	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.244000	0.18124	2.678000	0.91216	0.655000	0.94253	GAG		0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		122	533	1	0	3.20412e-72	1	4.07588e-72	122	533					A	193096461	C	A	193096461	3	1	79	1	0	0	0	0	1	0	0	0	1128	680	24	3	3720	3	ATP13A5	3	193096461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59571	193096461	4925969	4949	15266											
ATP13A4	84239	broad.mit.edu	37	chr3	193166086	193166086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattctccaagatcagcagCcccagaaatatcaggtctga	8	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	687						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2059-2061)ggG>ggA		ATPase type 13A4							119	112	114					3																	193166086		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166086C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2061G>A	3.37:g.193166086C>T						ATP13A4_ENST00000392443.3_Silent_p.G668G	p.G687G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2383	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		687					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2061G>A	CCDS3304.2																																																																																				0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		70	364	0	0	0	1	0	70	364					T	193166086	C	T	193166086	2	4	79	1	0	0	0	0	0	0	0	1	1127	726	26	2		2	ATP13A4	3	193166086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69625	193166086	4856344	4950	15267											
ATP13A4	84239	broad.mit.edu	37	chr3	193166103	193166103	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagccccagaaatatcaggtCtgattctaccgtctccctga	7	14	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166103C>A	ENST00000342695.4	-	18	2366	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	682						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATATCAGGTCTGATTCTACC	0.413																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2044-2046)Gac>Tac		ATPase type 13A4							106	100	102					3																	193166103		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166103C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2044G>T	3.37:g.193166103C>A	ENSP00000339182:p.Asp682Tyr					ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	p.D682Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2366	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		682					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2044G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271310	0.40194	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.73469	-0.75;-0.75	4.84	2.94	0.34122	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.159265	0.42420	D	0.000704	D	0.88284	0.6395	H	0.95982	3.75	0.80722	D	1	D;D;D	0.65815	0.995;0.993;0.98	D;P;D	0.67900	0.954;0.905;0.943	D	0.87830	0.2644	10	0.59425	D	0.04	-6.681	9.3042	0.37865	0.0:0.8118:0.0:0.1882	.	663;682;682	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Y	663;682	ENSP00000376238:D663Y;ENSP00000339182:D682Y	ENSP00000339182:D682Y	D	-	1	0	ATP13A4	194648797	0.966000	0.33281	0.982000	0.44146	0.536000	0.34869	1.632000	0.37102	0.492000	0.27815	-0.355000	0.07637	GAC		0.413	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		26	370	1	0	5.77227e-19	1	6.42407e-19	26	370					A	193166103	C	A	193166103	3	1	79	1	0	0	0	0	1	0	0	0	1127	913	32	3	1598	3	ATP13A4	3	193166103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	193166103	4856327	4951	15268											
ATP13A4	84239	broad.mit.edu	37	chr3	193171892	193171892	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatcatccccatttacctCgtcaaggtagtagcgtgatg	8	10	2	1	rs200015919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	675						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2023-2025)acG>acA		ATPase type 13A4		C		1,4405	2.1+/-5.4	0,1,2202	125	105	112		2025	-6.6	0	3		112	0,8600		0,0,4300	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		675/1197	193171892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193171892C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2025G>A	3.37:g.193171892C>T						ATP13A4_ENST00000392443.3_Silent_p.T656T	p.T675T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	17	2347	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		675					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2025G>A	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		64	220	0	0	0	1	0	64	220					T	193171892	C	T	193171892	2	4	79	1	0	0	0	0	0	0	0	1	1127	871	31	1		1	ATP13A4	3	193171892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5789	193171892	4850538	4952	15269											
CPN2	1370	broad.mit.edu	37	chr3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtgccctcggggttgCtgtaggtgcactggctccgg	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	484					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1450-1452)aGc>aTc		carboxypeptidase N, polypeptide 2							47	49	48					3																	194061981		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061981C>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1451G>T	3.37:g.194061981C>A	ENSP00000319464:p.Ser484Ile					CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	p.S484I	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1540	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		484					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1451G>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316294	0.60524	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.171304	0.28247	N	0.016057	T	0.41213	0.1149	L	0.27053	0.805	0.30440	N	0.77626	P	0.49961	0.93	P	0.44732	0.459	T	0.50634	-0.8805	10	0.62326	D	0.03	.	8.2362	0.31627	0.0:0.758:0.1589:0.0831	.	484	P22792	CPN2_HUMAN	I	484	ENSP00000319464:S484I;ENSP00000402232:S484I	ENSP00000319464:S484I	S	-	2	0	CPN2	195543676	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	2.702000	0.92279	0.655000	0.94253	AGC		0.662	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		71	297	1	0	4.96364e-44	1	6.06858e-44	71	297					A	194061981	C	A	194061981	3	1	79	1	0	0	0	0	1	0	0	0	3819	797	28	3	190	3	CPN2	3	194061981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890089	194061981	3960449	4953	15270											
GP5	2814	broad.mit.edu	37	chr3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagggcgcgcagcctgTtgcggcgcagggacacctgg	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)	373					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGCCTGTTGCGGCGCAG	0.711																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1117-1119)aAc>aGc		glycoprotein V (platelet)							6	8	7					3																	194117894		2082	4117	6199	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117894T>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1118A>G	3.37:g.194117894T>C	ENSP00000383931:p.Asn373Ser					GP5_ENST00000323007.3_Missense_Mutation_p.N373S	p.N373S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1189	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	373					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1118A>G	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145584	0.37923	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.72615	-0.67;-0.67	4.19	1.64	0.23874	.	0.148584	0.31358	N	0.007783	T	0.76011	0.3928	M	0.92738	3.34	0.20873	N	0.999839	P	0.48834	0.916	P	0.45681	0.49	T	0.69548	-0.5116	10	0.56958	D	0.05	.	7.2592	0.26193	0.0:0.0764:0.2703:0.6533	.	373	P40197	GPV_HUMAN	S	373	ENSP00000383931:N373S;ENSP00000319286:N373S	ENSP00000319286:N373S	N	-	2	0	GP5	195599183	0.997000	0.39634	0.183000	0.23137	0.335000	0.28730	1.930000	0.40124	0.204000	0.20548	-0.478000	0.04885	AAC		0.711	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		12	56	0	0	0	1	0	12	56					C	194117894	T	C	194117894	3	2	79	1	0	0	0	0	1	0	0	0	6612	1725	60	4	568	4	GP5	3	194117894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55913	194117894	3904536	4954	15271											
GP5	2814	broad.mit.edu	37	chr3	194118727	194118727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcagttttatcaggtcActgaaggtgccgggggcaac	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)	95					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(283-285)agT>agC		glycoprotein V (platelet)							78	83	81					3																	194118727		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118727A>G	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.285T>C	3.37:g.194118727A>G						GP5_ENST00000323007.3_Silent_p.S95S	p.S95S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	356	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	95					D1MER9	Silent	SNP	ENST00000401815.1	37	c.285T>C	CCDS3307.1																																																																																				0.577	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		90	513	0	0	0	1	0	90	513					G	194118727	A	G	194118727	2	3	79	1	0	0	0	0	0	0	0	1	6612	156	6	4		4	GP5	3	194118727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	194118727	3903703	4955	15272											
GP5	2814	broad.mit.edu	37	chr3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggttggtgggcaggcctaGcgcggagatgcgcgccacgt	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)	46	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAGGCCTAGCGCGGAGATG	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(136-138)Cta>Ata		glycoprotein V (platelet)							35	35	35					3																	194118876		2194	4284	6478	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118876G>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.136C>A	3.37:g.194118876G>T	ENSP00000383931:p.Leu46Ile					GP5_ENST00000323007.3_Missense_Mutation_p.L46I	p.L46I			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	207	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	46			LRRNT.		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.136C>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292667	0.40594	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42131	0.98;0.98	4.72	2.91	0.33838	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31495	N	0.007541	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.18085	-1.0348	10	0.21014	T	0.42	.	8.376	0.32442	0.2441:0.0:0.7559:0.0	.	46	P40197	GPV_HUMAN	I	46	ENSP00000383931:L46I;ENSP00000319286:L46I	ENSP00000319286:L46I	L	-	1	2	GP5	195600165	0.002000	0.14202	0.099000	0.21106	0.162000	0.22319	0.483000	0.22292	1.290000	0.44636	0.561000	0.74099	CTA		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		69	351	1	0	6.8682e-38	1	8.26113e-38	69	351					T	194118876	G	T	194118876	3	4	79	1	0	0	0	0	1	0	0	0	6612	962	34	3	1550	3	GP5	3	194118876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	194118876	3903554	4956	15273											
C3orf21	152002	broad.mit.edu	37	chr3	194790697	194790697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacctgcgccggctccAgcaggcggctgtagagcggg	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194790697A>C	ENST00000310380.6	-	4	1037	c.929T>G	c.(928-930)cTg>cGg	p.L310R	XXYLT1_ENST00000356740.5_Missense_Mutation_p.L104R|XXYLT1_ENST00000437101.1_Missense_Mutation_p.L107R|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Missense_Mutation_p.L164R|XXYLT1_ENST00000355729.4_Missense_Mutation_p.L107R	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	310						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CGCCGGCTCCAGCAGGCGGCT	0.687																																						ENST00000310380.6																			0											c.(928-930)cTg>cGg		xyloside xylosyltransferase 1							33	38	36					3																	194790697		1944	4144	6088	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790697A>C	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.929T>G	3.37:g.194790697A>C	ENSP00000309640:p.Leu310Arg					XXYLT1_ENST00000355729.4_Missense_Mutation_p.L107R|XXYLT1_ENST00000437101.1_Missense_Mutation_p.L107R|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.L104R|XXYLT1_ENST00000429994.1_Missense_Mutation_p.L164R	p.L310R	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1037	-			310					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.929T>G	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.933216	0.92458	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.52175	0.1718	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.995;0.949;0.999	T	0.50127	-0.8864	10	0.22706	T	0.39	-0.5896	15.4921	0.75615	1.0:0.0:0.0:0.0	.	310;107;104	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	R	310;107;107;164;104	ENSP00000309640:L310R;ENSP00000409865:L107R;ENSP00000347967:L107R;ENSP00000399422:L164R;ENSP00000349179:L104R	ENSP00000309640:L310R	L	-	2	0	C3orf21	196271986	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.273000	0.95719	2.257000	0.74773	0.460000	0.39030	CTG		0.687	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		69	313	0	0	0	1	0	69	313					C	194790697	A	C	194790697	3	2	79	1	0	0	0	0	1	0	0	0	2221	188	7	4	256	4	C3orf21	3	194790697	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	671821	194790697	3231733	4957	15274											
ACAP2	23527	broad.mit.edu	37	chr3	195013054	195013054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaattggcccagttcacGtctgcaccatgagccaaagc	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	631					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1891-1893)gaC>gaT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							165	163	163					3																	195013054		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195013054G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1893C>T	3.37:g.195013054G>A							p.D631D	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			19	2123	-			631					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1893C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220917	0.09863	.	.	ENSG00000114331	ENST00000450200	.	.	.	5.43	-1.23	0.09465	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	.	5.4496	0.16556	0.5395:0.0:0.2902:0.1702	.	.	.	.	C	225	.	.	R	-	1	0	ACAP2	196494343	0.926000	0.31397	0.997000	0.53966	0.731000	0.41821	0.075000	0.14686	-0.150000	0.11195	-2.006000	0.00442	CGT		0.413	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		99	498	0	0	0	1	0	99	498					A	195013054	G	A	195013054	2	1	79	1	0	0	0	0	0	0	0	1	119	1136	40	1		1	ACAP2	3	195013054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222357	195013054	3009376	4958	15275											
ACAP2	23527	broad.mit.edu	37	chr3	195022900	195022900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgatttcttatccaGcttctaaaagaattaagaat	7	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	374					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTATCCAGCTTCTAAAAG	0.348																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1120-1122)Ctg>Ttg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							82	94	90					3																	195022900		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022900G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1120C>T	3.37:g.195022900G>A							p.L374L	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			14	1350	-			374					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1120C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708055	0.15239	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58752	-0.7581	4	.	.	.	.	9.7794	0.40639	0.0746:0.1394:0.786:0.0	.	.	.	.	V	248	.	.	A	-	2	0	ACAP2	196504189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	1.357000	0.45904	0.591000	0.81541	GCT		0.348	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		27	735	0	0	0	1	0	27	735					A	195022900	G	A	195022900	2	1	79	1	0	0	0	0	0	0	0	1	119	962	34	2		2	ACAP2	3	195022900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9846	195022900	2999530	4959	15276											
MUC4	4585	broad.mit.edu	37	chr3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctaccaaagagctccaagtCggtgcagctgtctctgagcg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000346145.4	-	16	2302	c.2263G>A	c.(2263-2265)Gac>Aac	p.D755N	MUC4_ENST00000463781.3_Missense_Mutation_p.D4991N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1748					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14971-14973)Gac>Aac		mucin 4, cell surface associated							238	233	235					3																	195486010		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195486010C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2263G>A	3.37:g.195486010C>T	ENSP00000304207:p.Asp755Asn					MUC4_ENST00000346145.4_Missense_Mutation_p.D755N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N	p.D4991N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	17	15430	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1748					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14971G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.154	1.017007	0.19355	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38560	1.13;1.49;1.48;1.45	4.39	1.54	0.23209	.	1.090690	0.07014	N	0.825628	T	0.32041	0.0816	L	0.52364	1.645	0.09310	N	1	P;P;P;P;P;P	0.49253	0.663;0.469;0.469;0.58;0.58;0.921	B;B;B;B;B;B	0.39217	0.153;0.069;0.069;0.056;0.056;0.294	T	0.24225	-1.0166	10	0.34782	T	0.22	-8.7228	3.1604	0.06518	0.2124:0.5678:0.0:0.2198	.	4863;704;755;4991;4939;1696	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	N	704;755;4991;4939;1491	ENSP00000338109:D704N;ENSP00000304207:D755N;ENSP00000417498:D4991N;ENSP00000420243:D4939N	ENSP00000304207:D755N	D	-	1	0	MUC4	196971681	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.222000	0.17699	0.571000	0.29365	0.450000	0.29827	GAC		0.532	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		279	1205	0	0	0	1	0	279	1205					T	195486010	C	T	195486010	3	4	79	1	0	0	0	0	1	0	0	0	10019	884	31	1	1303	1	MUC4	3	195486010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463110	195486010	2536420	4960	15277											
MUC4	4585	broad.mit.edu	37	chr3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttccctcgtgtgaagtcCgatgcttgcgttgcgcaggg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000346145.4	-	15	2125	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	MUC4_ENST00000463781.3_Missense_Mutation_p.G4932R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGAAGTCCGATGCTTGCG	0.552																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14794-14796)Gga>Aga		mucin 4, cell surface associated							128	114	119					3																	195487809		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195487809C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2086G>A	3.37:g.195487809C>T	ENSP00000304207:p.Gly696Arg					MUC4_ENST00000346145.4_Missense_Mutation_p.G696R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R	p.G4932R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	16	15253	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1689					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14794G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.765484	0.49574	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.61040	0.14;0.5;0.36;0.35	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000100	T	0.74772	0.3760	M	0.72894	2.215	0.29535	N	0.852531	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.991;0.995;0.999;0.999;0.998	T	0.73512	-0.3959	10	0.87932	D	0	-12.1818	15.4417	0.75187	0.0:1.0:0.0:0.0	.	4804;645;696;4932;4880;1637	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	645;696;4932;4880;1432	ENSP00000338109:G645R;ENSP00000304207:G696R;ENSP00000417498:G4932R;ENSP00000420243:G4880R	ENSP00000304207:G696R	G	-	1	0	MUC4	196973480	0.131000	0.22433	0.062000	0.19696	0.017000	0.09413	2.220000	0.42908	2.333000	0.79357	0.556000	0.70494	GGA		0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		91	355	0	0	0	1	0	91	355					T	195487809	C	T	195487809	3	4	79	1	0	0	0	0	1	0	0	0	10019	661	23	1	1484	1	MUC4	3	195487809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1799	195487809	2534621	4961	15278											
TNK2	10188	broad.mit.edu	37	chr3	195593780	195593780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgggcagggccccaGgagcccagaaggtggcagcc	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000381916.2_Silent_p.S1078S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1030				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(3088-3090)tcC>tcT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						24	29	27					3																	195593780		2195	4297	6492	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195593780G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3090C>T	3.37:g.195593780G>A						TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000381916.2_Silent_p.S1078S|TNK2_ENST00000392400.1_Silent_p.S1030S	p.S1030S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	14	3707	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1030	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.3090C>T	CCDS33928.1																																																																																				0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		13	90	0	0	0	1	0	13	90					A	195593780	G	A	195593780	2	1	79	1	0	0	0	0	0	0	0	1	16370	987	35	2		2	TNK2	3	195593780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105971	195593780	2428650	4962	15279											
TNK2	10188	broad.mit.edu	37	chr3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtggcactcccctctgGgccgcagacccagcccgaag	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1005				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(3013-3015)cCc>cAc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						30	34	33					3																	195593856		2200	4300	6500	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195593856G>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3014C>A	3.37:g.195593856G>T	ENSP00000329425:p.Pro1005His					TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H	p.P1005H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	14	3631	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1005	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.3014C>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181629	0.57800	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.74947	-0.82;-0.89;2.94;-0.87;-0.82	5.85	5.85	0.93711	.	0.114465	0.64402	D	0.000013	T	0.81541	0.4844	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.947;0.999;0.976;1.0	P;P;P;D	0.70487	0.628;0.855;0.628;0.969	T	0.82436	-0.0458	10	0.72032	D	0.01	.	18.7512	0.91816	0.0:0.0:1.0:0.0	.	1005;1053;1007;532	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	H	1005;1053;574;1007;1005	ENSP00000329425:P1005H;ENSP00000371341:P1053H;ENSP00000398614:P574H;ENSP00000392546:P1007H;ENSP00000376201:P1005H	ENSP00000329425:P1005H	P	-	2	0	TNK2	197078253	1.000000	0.71417	0.987000	0.45799	0.639000	0.38242	4.289000	0.59013	2.768000	0.95171	0.655000	0.94253	CCC		0.677	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		8	202	1	0	1.76689e-08	1	1.84553e-08	8	202					T	195593856	G	T	195593856	3	4	79	1	0	0	0	0	1	0	0	0	16370	1232	43	3	110	3	TNK2	3	195593856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	195593856	2428574	4963	15280											
OSTalpha	200931	broad.mit.edu	37	chr3	195959986	195959986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctaatgactgtgctgacAcgaatgtactaccgaaggaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195959986A>G	ENST00000296327.5	+	9	1148	c.939A>G	c.(937-939)acA>acG	p.T313T	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	313					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CTGTGCTGACACGAATGTACT	0.468																																						ENST00000296327.5																			0											c.(937-939)acA>acG		solute carrier family 51, alpha subunit							189	164	172					3																	195959986		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195959986A>G		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.939A>G	3.37:g.195959986A>G						PCYT1A_ENST00000419333.1_Intron	p.T313T	NM_152672.5	NP_689885.4					9	1148	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.939A>G	CCDS3314.1																																																																																				0.468	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		118	572	0	0	0	1	0	118	572					G	195959986	A	G	195959986	2	3	79	1	0	0	0	0	0	0	0	1	11342	146	6	4		4	OSTalpha	3	195959986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	366130	195959986	2062444	4964	15281											
TM4SF19	116211	broad.mit.edu	37	chr3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaaaggcccaggaggCtgttgatgacatgaacgacc	13	9	0	4	rs200450880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000273695.3	-	5	718	c.593G>T	c.(592-594)aGc>aTc	p.S198I	TM4SF19_ENST00000446879.1_Missense_Mutation_p.A197S|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	198						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCCAGGAGGCTGTTGATGAC	0.547																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(589-591)Gcc>Tcc		transmembrane 4 L six family member 19							84	82	83					3																	196050725		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196050725C>A	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.593G>T	3.37:g.196050725C>A	ENSP00000273695:p.Ser198Ile					TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.S198I|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000452051.1_RNA	p.A197S			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	5	714	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		0					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.589G>T	CCDS3316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.9|21.9|21.9	4.218752|4.218752|4.218752	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822|ENST00000454715;ENST00000273695	T|.|T;T	0.26660|.|0.32753	1.72|.|1.44;1.44	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|.|0.148706	.|.|0.48767	.|.|D	.|.|0.000169	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.40063|0.40063|0.40063	D|D|D	0.975928|0.975928|0.975928	D|.|D;D	0.76494|.|0.69078	0.999|.|0.997;0.968	D|.|D;P	0.78314|.|0.68621	0.991|.|0.959;0.713	T|T|T	0.55166|0.55166|0.55166	-0.8183|-0.8183|-0.8183	9|5|10	0.15952|.|0.87932	T|.|D	0.53|.|0	-0.2669|-0.2669|-0.2669	14.4827|14.4827|14.4827	0.67594|0.67594|0.67594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	197|.|172;198	C9JCD5|.|E9PH22;Q96DZ7	.|.|.;T4S19_HUMAN	S|H|I	197|64|172;198	ENSP00000395280:A197S|.|ENSP00000387728:S172I;ENSP00000273695:S198I	ENSP00000395280:A197S|.|ENSP00000273695:S198I	A|Q|S	-|-|-	1|3|2	0|2|0	TM4SF19|TM4SF19|TM4SF19	197535122|197535122|197535122	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.943000|0.943000|0.943000	0.58893|0.58893|0.58893	2.774000|2.774000|2.774000	0.47694|0.47694|0.47694	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|CAG|AGC		0.547	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		19	346	1	0	1.33834e-09	1	1.40959e-09	19	346					A	196050725	C	A	196050725	3	1	79	1	0	0	0	0	1	0	0	0	16020	797	28	3	40	3	TM4SF19	3	196050725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90739	196050725	1971705	4965	15282											
RNF168	165918	broad.mit.edu	37	chr3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcgctggcccgtcGctctgccgccaccttaaaag	8	17	2	0	rs201915239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(391-393)Cga>Tga		ring finger protein 168, E3 ubiquitin protein ligase		G	stop/ARG	0,4404		0,0,2202	116	108	111		391	2.7	1	3		111	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	RNF168	NM_152617.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		131/572	196214437	1,13001	2202	4299	6501	SO:0001587	stop_gained	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214437G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.391C>T	3.37:g.196214437G>A	ENSP00000320898:p.Arg131*						p.R131*	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	985	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		131			Glu-rich.		Q8NA67|Q96NS4	Nonsense_Mutation	SNP	ENST00000318037.3	37	c.391C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	RNF168	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA		0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		99	411	0	0	0	1	0	99	411					A	196214437	G	A	196214437	4	1	79	1	0	0	0	0	0	1	0	0	13509	1095	38	1	1340	1	RNF168	3	196214437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163712	196214437	1807993	4966	15283											
FBXO45	200933	broad.mit.edu	37	chr3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagggccctctgggcaCtgtggcagtgattggaattg	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	167	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(499-501)aCt>aTt		F-box protein 45							41	42	42					3																	196304505		1949	4144	6093	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304505C>T	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.500C>T	3.37:g.196304505C>T	ENSP00000310332:p.Thr167Ile					FBXO45_ENST00000440469.1_5'UTR	p.T167I	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	797	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		167			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.500C>T	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688765	0.88639	.	.	ENSG00000174013	ENST00000311630	T	0.60424	0.19	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098281	0.64402	D	0.000001	D	0.82655	0.5084	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87388	0.2361	10	0.87932	D	0	-20.9781	18.4427	0.90673	0.0:1.0:0.0:0.0	.	167	P0C2W1	FBSP1_HUMAN	I	167	ENSP00000310332:T167I	ENSP00000310332:T167I	T	+	2	0	FBXO45	197788902	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.099000	0.76981	2.608000	0.88229	0.456000	0.33151	ACT		0.577	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			23	99	0	0	0	1	0	23	99					T	196304505	C	T	196304505	3	4	79	1	0	0	0	0	1	0	0	0	5779	565	20	2	506	2	FBXO45	3	196304505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90068	196304505	1717925	4967	15284											
LRRC33	375387	broad.mit.edu	37	chr3	196386811	196386811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcgcatcagccgcggCgccttccaggagcaaggtca	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196386811C>T	ENST00000328557.4	+	3	500	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	99					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)											TCAGCCGCGGCGCCTTCCAGG	0.657																																						ENST00000328557.4																			0											c.(295-297)ggC>ggT		negative regulator of reactive oxygen species							44	42	43					3																	196386811		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196386811C>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.297C>T	3.37:g.196386811C>T							p.G99G	NM_198565.1	NP_940967.1					3	500	+									Silent	SNP	ENST00000328557.4	37	c.297C>T	CCDS3319.1																																																																																				0.657	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		40	211	0	0	0	1	0	40	211					T	196386811	C	T	196386811	2	4	79	1	0	0	0	0	0	0	0	1	9026	755	27	1		1	LRRC33	3	196386811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82306	196386811	1635619	4968	15285											
LRRC33	375387	broad.mit.edu	37	chr3	196387788	196387788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcctcttcgccaatgCtaggaacatcactacacttg	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196387788C>A	ENST00000328557.4	+	3	1477	c.1274C>A	c.(1273-1275)gCt>gAt	p.A425D		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	425					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)											TTCGCCAATGCTAGGAACATC	0.627																																						ENST00000328557.4																			0											c.(1273-1275)gCt>gAt		negative regulator of reactive oxygen species							114	118	117					3																	196387788		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387788C>A	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.1274C>A	3.37:g.196387788C>A	ENSP00000328625:p.Ala425Asp						p.A425D	NM_198565.1	NP_940967.1					3	1477	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1274C>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832946	0.32421	.	.	ENSG00000174004	ENST00000328557	T	0.00976	5.48	6.03	6.03	0.97812	.	0.190802	0.47455	D	0.000229	T	0.02267	0.0070	L	0.33710	1.025	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	T	0.64812	-0.6319	10	0.66056	D	0.02	.	13.7229	0.62740	0.0:0.9301:0.0:0.0699	.	425	Q86YC3	LRC33_HUMAN	D	425	ENSP00000328625:A425D	ENSP00000328625:A425D	A	+	2	0	LRRC33	197872185	0.943000	0.32029	0.528000	0.27938	0.083000	0.17756	4.655000	0.61476	2.854000	0.98071	0.655000	0.94253	GCT		0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		214	782	1	0	7.75935e-95	1	9.96969e-95	214	782					A	196387788	C	A	196387788	3	1	79	1	0	0	0	0	1	0	0	0	9026	797	28	3	1280	3	LRRC33	3	196387788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977	196387788	1634642	4969	15286											
LRRC33	375387	broad.mit.edu	37	chr3	196388376	196388376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactgggccatggtcacctGcaacctctcctccaagatca	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196388376G>A	ENST00000328557.4	+	3	2065	c.1862G>A	c.(1861-1863)tGc>tAc	p.C621Y		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	621					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)											ATGGTCACCTGCAACCTCTCC	0.642																																						ENST00000328557.4																			0											c.(1861-1863)tGc>tAc		negative regulator of reactive oxygen species							76	81	79					3																	196388376		2203	4299	6502	SO:0001583	missense	375387							g.chr3:196388376G>A	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.1862G>A	3.37:g.196388376G>A	ENSP00000328625:p.Cys621Tyr						p.C621Y	NM_198565.1	NP_940967.1					3	2065	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1862G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502274	0.44455	.	.	ENSG00000174004	ENST00000328557	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.79855	-0.1627	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	621	Q86YC3	LRC33_HUMAN	Y	621	ENSP00000328625:C621Y	ENSP00000328625:C621Y	C	+	2	0	LRRC33	197872773	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.161000	0.77505	2.836000	0.97738	0.655000	0.94253	TGC		0.642	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		26	574	0	0	0	1	0	26	574					A	196388376	G	A	196388376	3	1	79	1	0	0	0	0	1	0	0	0	9026	1319	46	2	1868	2	LRRC33	3	196388376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	588	196388376	1634054	4970	15287											
PAK2	5062	broad.mit.edu	37	chr3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaatcacagtttgaaacCtttgccctctgttccagaag	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	39					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		AGTTTGAAACCTTTGCCCTCT	0.473																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(115-117)cCt>cAt		p21 protein (Cdc42/Rac)-activated kinase 2							141	148	145					3																	196509633		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509633C>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.116C>A	3.37:g.196509633C>A	ENSP00000314067:p.Pro39His						p.P39H	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)	2	438	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		39					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.116C>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430706	0.83776	.	.	ENSG00000180370	ENST00000327134	T	0.72505	-0.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85194	0.1011	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	39	Q13177	PAK2_HUMAN	H	39	ENSP00000314067:P39H	ENSP00000314067:P39H	P	+	2	0	PAK2	197994030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT		0.473	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		50	1081	1	0	2.40579e-17	1	2.65515e-17	50	1081					A	196509633	C	A	196509633	3	1	79	1	0	0	0	0	1	0	0	0	11443	681	24	3	118	3	PAK2	3	196509633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121257	196509633	1512797	4971	15288											
PAK2	5062	broad.mit.edu	37	chr3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcatggaataccttgCtggggggtcactcactgatg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		GAATACCTTGCTGGGGGGTCA	0.413																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(979-981)gCt>gAt		p21 protein (Cdc42/Rac)-activated kinase 2							163	159	160					3																	196541366		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541366C>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.980C>A	3.37:g.196541366C>A	ENSP00000314067:p.Ala327Asp						p.A327D	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)	11	1302	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		327			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.980C>A	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038673|3.038673	0.55003|0.55003	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.12672|.	2.66|.	5.85|5.85	4.97|4.97	0.65823|0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.046739|.	0.85682|.	N|.	0.000000|.	T|T	0.45518|0.45518	0.1346|0.1346	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	P|.	0.37500|.	0.597|.	B|.	0.35899|.	0.213|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.33141|.	T|.	0.24|.	.|.	16.3062|16.3062	0.82849|0.82849	0.1334:0.8666:0.0:0.0|0.1334:0.8666:0.0:0.0	.|.	327|.	Q13177|.	PAK2_HUMAN|.	D|M	327|70	ENSP00000314067:A327D|.	ENSP00000314067:A327D|.	A|L	+|+	2|1	0|2	PAK2|PAK2	198025763|198025763	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	7.463000|7.463000	0.80869|0.80869	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.413	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		149	637	1	0	1.5746e-79	1	2.01278e-79	149	637					A	196541366	C	A	196541366	3	1	79	1	0	0	0	0	1	0	0	0	11443	797	28	3	1018	3	PAK2	3	196541366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31733	196541366	1481064	4972	15289											
SENP5	205564	broad.mit.edu	37	chr3	196613102	196613102	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgaccaacagaatggCagtgccacaaacgcctggga	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	350					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACAGAATGGCAGTGCCACAA	0.488																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1048-1050)ggC>ggA		SUMO1/sentrin specific peptidase 5							79	71	73					3																	196613102		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613102C>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1050C>A	3.37:g.196613102C>A						SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	p.G350G	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1299	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		350					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.1050C>A	CCDS3322.1																																																																																				0.488	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		18	255	1	0	9.16793e-09	1	9.60025e-09	18	255					A	196613102	C	A	196613102	2	1	79	1	0	0	0	0	0	0	0	1	14099	697	25	3		3	SENP5	3	196613102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71736	196613102	1409328	4973	15290											
NCBP2	22916	broad.mit.edu	37	chr3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttctttatgtcaccacTtttgctgaagagttcataga	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000321256.5	-	2	280	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_ENST00000467803.1_5'Flank|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000427641.2_Intron	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	63	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338																																						ENST00000321256.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(187-189)Agt>Cgt		nuclear cap binding protein subunit 2, 20kDa							106	100	102					3																	196666195		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196666195T>G	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"RNA binding motif (RRM) containing"	7659	protein-coding gene	gene with protein product		605133	"nuclear cap binding protein subunit 2, 20kD"			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.187A>C	3.37:g.196666195T>G	ENSP00000326806:p.Ser63Arg					NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000422610.1_5'UTR	p.S63R	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	2	280	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		63			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.187A>C	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747173	0.69418	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.74315	-0.83;-0.83	5.6	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.077733	0.85682	D	0.000000	T	0.79118	0.4392	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.964;0.953;0.969	T	0.80462	-0.1372	10	0.87932	D	0	.	12.4287	0.55561	0.0:0.0:0.1403:0.8597	.	45;82;63	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	R	63;45	ENSP00000326806:S63R;ENSP00000412785:S45R	ENSP00000326806:S63R	S	-	1	0	NCBP2	198150592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.863000	0.39459	1.048000	0.40298	0.459000	0.35465	AGT		0.338	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		60	272	0	0	0	1	0	60	272					G	196666195	T	G	196666195	3	3	79	1	0	0	0	0	1	0	0	0	10254	1609	56	4	295	4	NCBP2	3	196666195	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53093	196666195	1356235	4974	15291											
PIGZ	80235	broad.mit.edu	37	chr3	196678897	196678897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctacgctggatccacagatCtgcatctgttgaggataaca	10	10	2	2	rs139328732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000412723.1	-	2	152	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000443835.1_Silent_p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	2					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATCCACAGATCTGCATCTGTT	0.418																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(4-6)caG>caA		phosphatidylinositol glycan anchor biosynthesis, class Z		C		0,4406		0,0,2203	71	62	65		6	2.8	0	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIGZ	NM_025163.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2/580	196678897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678897C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.6G>A	3.37:g.196678897C>T						PIGZ_ENST00000443835.1_Silent_p.Q2Q	p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	152	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		2					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.6G>A	CCDS3324.1																																																																																				0.418	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		26	92	0	0	0	1	0	26	92					T	196678897	C	T	196678897	2	4	79	1	0	0	0	0	0	0	0	1	11947	912	32	2		2	PIGZ	3	196678897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12702	196678897	1343533	4975	15292											
DLG1	1739	broad.mit.edu	37	chr3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcacttcatttgtgatttGtggggaaatatgctcttgag	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000419354.1	-	5	656	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	124					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(370-372)Caa>Taa		discs, large homolog 1 (Drosophila)							168	161	163					3																	196921409		2203	4299	6502	SO:0001587	stop_gained	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921409G>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.370C>T	3.37:g.196921409G>A	ENSP00000407531:p.Gln124*					DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*	p.Q124*	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	559	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	124					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Nonsense_Mutation	SNP	ENST00000419354.1	37	c.370C>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192244	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	.	.	.	5.17	4.2	0.49525	.	0.370524	0.28214	N	0.016163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.5045	0.75728	0.0:0.0:0.8523:0.1477	.	.	.	.	X	124;124;124;124;124;124;124;124;124;124;28;124;124;124	.	ENSP00000321087:Q124X	Q	-	1	0	DLG1	198405806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.372000	0.59530	2.413000	0.81919	0.655000	0.94253	CAA		0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		40	232	0	0	0	1	0	40	232					A	196921409	G	A	196921409	4	1	79	1	0	0	0	0	0	1	0	0	4570	1386	48	2	2536	2	DLG1	3	196921409	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242512	196921409	1101021	4976	15293											
BDH1	622	broad.mit.edu	37	chr3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaaggttcacttctgCcacctgcttgtaggtctcca	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000392378.2	-	6	803	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_ENST00000392379.1_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	165					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TTCACTTCTGCCACCTGCTTG	0.592																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(493-495)Gca>Aca		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						155	122	133					3																	197241204		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241204C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.493G>A	3.37:g.197241204C>T	ENSP00000376183:p.Ala165Thr					BDH1_ENST00000392378.2_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	p.A165T	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	894	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	165					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.493G>A	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541301|4.541301	0.85917|0.85917	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819|ENST00000455876	D;D;D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26|.	5.02|5.02	5.02|5.02	0.67125|0.67125	NAD(P)-binding domain (1);|.	0.055371|.	0.64402|.	D|.	0.000001|.	T|.	0.52837|.	0.1759|.	N|N	0.20986|0.20986	0.625|0.625	0.53688|0.53688	D|D	0.999971|0.999971	P|.	0.46859|.	0.885|.	P|.	0.51297|.	0.665|.	T|.	0.48043|.	-0.9069|.	10|.	0.26408|.	T|.	0.33|.	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q02338|.	BDH_HUMAN|.	T|X	165;165;165;78;78;146;165|21	ENSP00000376183:A165T;ENSP00000350914:A165T;ENSP00000376184:A165T;ENSP00000411014:A78T;ENSP00000387648:A78T;ENSP00000408685:A146T;ENSP00000409849:A165T|.	ENSP00000350914:A165T|.	A|W	-|-	1|3	0|0	BDH1|BDH1	198725601|198725601	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	6.096000|6.096000	0.71446|0.71446	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|TGG		0.592	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		36	335	0	0	0	1	0	36	335					T	197241204	C	T	197241204	3	4	79	1	0	0	0	0	1	0	0	0	1391	739	26	2	546	2	BDH1	3	197241204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319795	197241204	781226	4977	15294											
KIAA0226	9711	broad.mit.edu	37	chr3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaggtggcctccaGgacggcggcttccagggcca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000296343.5	-	20	2904	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	KIAA0226_ENST00000273582.5_Missense_Mutation_p.L924M|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	969					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2770-2772)Ctg>Atg		KIAA0226																																				SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197401903G>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2905C>A	3.37:g.197401903G>T	ENSP00000296343:p.Leu969Met					KIAA0226_ENST00000296343.5_Missense_Mutation_p.L969M	p.L924M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	21	3315	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		969			Cys-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2770C>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.564|8.564	0.878353|0.878353	0.17395|0.17395	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343|ENST00000413360	.|.	.|.	.|.	5.32|5.32	0.165|0.165	0.14995|0.14995	.|.	0.577690|.	0.14919|.	N|.	0.290777|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.9999|0.9999	P;P|.	0.45176|.	0.852;0.622|.	P;B|.	0.48400|.	0.576;0.372|.	T|T	0.28038|0.28038	-1.0056|-1.0056	9|5	0.72032|.	D|.	0.01|.	.|.	5.3615|5.3615	0.16091|0.16091	0.3426:0.1396:0.5179:0.0|0.3426:0.1396:0.5179:0.0	.|.	924;969|.	Q92622-2;Q92622|.	.;RUBIC_HUMAN|.	M|H	924;969|930	.|.	ENSP00000273582:L924M|.	L|P	-|-	1|2	2|0	KIAA0226|KIAA0226	198886300|198886300	0.637000|0.637000	0.27216|0.27216	0.071000|0.071000	0.20095|0.20095	0.216000|0.216000	0.24613|0.24613	0.920000|0.920000	0.28705|0.28705	0.032000|0.032000	0.15435|0.15435	0.591000|0.591000	0.81541|0.81541	CTG|CCT		0.677	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		77	386	1	0	2.22156e-40	1	2.69346e-40	77	386					T	197401903	G	T	197401903	3	4	79	1	0	0	0	0	1	0	0	0	8192	991	35	3	17	3	KIAA0226	3	197401903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160699	197401903	620527	4978	15295											
KIAA0226	9711	broad.mit.edu	37	chr3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccaaggtcttacccGgacttgattgagcagcttga	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000296343.5	-	16	2427	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R765W	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	810					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCTTACCCGGACTTGATTG	0.562																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2293-2295)Cgg>Tgg		KIAA0226							82	79	80					3																	197408002		1990	4175	6165	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408002G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2428C>T	3.37:g.197408002G>A	ENSP00000296343:p.Arg810Trp					KIAA0226_ENST00000296343.5_Missense_Mutation_p.R810W|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W	p.R765W	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	17	2838	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		810					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2293C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998210|1.998210	0.35226|0.35226	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	4.55|4.55	2.71|2.71	0.32032|0.32032	.|.	.|0.076684	.|0.53938	.|D	.|0.000042	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.78916|0.78916	2.43|2.43	0.50171|0.50171	D|D	0.999858|0.999858	.|P;B;P	.|0.38677	.|0.642;0.199;0.557	.|B;B;B	.|0.34652	.|0.187;0.072;0.175	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|0.54805	.|T	.|0.06	.|.	8.942|8.942	0.35736|0.35736	0.072:0.0:0.6657:0.2623|0.072:0.0:0.6657:0.2623	.|.	.|835;765;810	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|W	771|765;810;835	.|.	.|ENSP00000273582:R765W	P|R	-|-	2|1	0|2	KIAA0226|KIAA0226	198892399|198892399	0.912000|0.912000	0.30974|0.30974	0.993000|0.993000	0.49108|0.49108	0.602000|0.602000	0.36980|0.36980	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		63	259	0	0	0	1	0	63	259					A	197408002	G	A	197408002	3	1	79	1	0	0	0	0	1	0	0	0	8192	1115	39	1	510	1	KIAA0226	3	197408002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6099	197408002	614428	4979	15296											
KIAA0226	9711	broad.mit.edu	37	chr3	197408180	197408180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctgggcattctcgtgGcagcactggcagaagtactt	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000296343.5	-	16	2249	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000273582.5_Silent_p.C705C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			2	Substitution - Nonsense(2)	p.C750*(1)|p.C705*(1)	lung(2)	NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2113-2115)tgC>tgT		KIAA0226							88	87	87					3																	197408180		2004	4190	6194	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408180G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2250C>T	3.37:g.197408180G>A						KIAA0226_ENST00000296343.5_Silent_p.C750C|KIAA0226_ENST00000389665.5_Silent_p.C775C	p.C705C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	17	2660	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		750					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2115C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.39|10.39	1.337956|1.337956	0.24253|0.24253	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.48|5.48	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	-0.5699|-0.5699	4|4	.|.	.|.	.|.	.|.	14.4957|14.4957	0.67685|0.67685	0.0:0.0:0.8529:0.1471|0.0:0.0:0.8529:0.1471	.|.	.|.	.|.	.|.	V|S	534|712	.|.	.|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198892577|198892577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.022000|4.022000	0.57203|0.57203	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.527	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		106	399	0	0	0	1	0	106	399					A	197408180	G	A	197408180	2	1	79	1	0	0	0	0	0	0	0	1	8192	1195	42	2		2	KIAA0226	3	197408180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	197408180	614250	4980	15297											
KIAA0226	9711	broad.mit.edu	37	chr3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccacatcctgcacagcGgtaattctgcttggccacgg	11	13	1	0	rs374416455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000296343.5	-	15	2157	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R675C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	720					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGCACAGCGGTAATTCTGC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21470	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2023-2025)Cgc>Tgc		KIAA0226		G	CYS/ARG,CYS/ARG	0,4318		0,0,2159	100	112	108		2023,2158	5.4	1	3		108	1,8501		0,1,4250	no	missense,missense	KIAA0226	NM_001145642.2,NM_014687.1	180,180	0,1,6409	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	675/928,720/973	197408739	1,12819	2159	4251	6410	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408739G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2158C>T	3.37:g.197408739G>A	ENSP00000296343:p.Arg720Cys					KIAA0226_ENST00000296343.5_Missense_Mutation_p.R720C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C	p.R675C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	16	2568	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		720					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2023C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594923|4.594923	0.86953|0.86953	0.0|0.0	1.18E-4|1.18E-4	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.119767	.|0.64402	.|D	.|0.000019	T|T	0.79293|0.79293	0.4421|0.4421	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.975;0.988	T|T	0.79654|0.79654	-0.1713|-0.1713	5|9	.|0.52906	.|T	.|0.07	.|.	17.798|17.798	0.88579|0.88579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;675;720	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|C	681|675;720;745	.|.	.|ENSP00000273582:R675C	P|R	-|-	2|1	0|0	KIAA0226|KIAA0226	198893136|198893136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.984000|4.984000	0.63838|0.63838	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.592	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		29	213	0	0	0	1	0	29	213					A	197408739	G	A	197408739	3	1	79	1	0	0	0	0	1	0	0	0	8192	1116	39	1	784	1	KIAA0226	3	197408739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559	197408739	613691	4981	15298											
KIAA0226	9711	broad.mit.edu	37	chr3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggcaccatcagcactgCtctggtcgttctcgtgcacg	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000296343.5	-	4	331	c.332G>T	c.(331-333)aGc>aTc	p.S111I	KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S51I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCAGCACTGCTCTGGTCGTT	0.587																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(151-153)aGc>aTc		KIAA0226							54	56	55					3																	197431544		2120	4253	6373	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431544C>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.332G>T	3.37:g.197431544C>A	ENSP00000296343:p.Ser111Ile					KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000296343.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I	p.S51I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	697	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		111			RUN.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.152G>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857056|1.857056	0.32791|0.32791	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.95|5.95	1.15|1.15	0.20763|0.20763	.|RUN (2);	.|0.970843	.|0.08567	.|N	.|0.926613	T|T	0.30541|0.30541	0.0768|0.0768	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.55800	.|0.973;0.941;0.973	.|P;P;P	.|0.57846	.|0.828;0.735;0.828	T|T	0.28138|0.28138	-1.0053|-1.0053	5|10	.|0.52906	.|T	.|0.07	.|.	7.7581|7.7581	0.28936|0.28936	0.0:0.5565:0.2097:0.2338|0.0:0.5565:0.2097:0.2338	.|.	.|111;51;111	.|E9PEM3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	D|I	89|51;111;111;111	.|ENSP00000273582:S51I;ENSP00000296343:S111I;ENSP00000374316:S111I;ENSP00000390962:S111I	.|ENSP00000273582:S51I	E|S	-|-	3|2	2|0	KIAA0226|KIAA0226	198915941|198915941	0.021000|0.021000	0.18746|0.18746	0.375000|0.375000	0.26029|0.26029	0.243000|0.243000	0.25628|0.25628	0.065000|0.065000	0.14466|0.14466	0.276000|0.276000	0.22118|0.22118	-0.189000|-0.189000	0.12847|0.12847	GAG|AGC		0.587	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		44	230	1	0	1.22674e-20	1	1.37621e-20	44	230					A	197431544	C	A	197431544	3	1	79	1	0	0	0	0	1	0	0	0	8192	797	28	3	2703	3	KIAA0226	3	197431544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22805	197431544	590886	4982	15299											
KIAA0226	9711	broad.mit.edu	37	chr3	197431564	197431564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtcgttctcgtgcacGctgatgaactgggaagcaaa	12	10	2	2	rs557932058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000296343.5	-	4	311	c.312C>T	c.(310-312)agC>agT	p.S104S	KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000273582.5_Silent_p.S44S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	104	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGCACGCTGATGAACT	0.542													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(130-132)agC>agT		KIAA0226							47	47	47					3																	197431564		2109	4250	6359	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431564G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.312C>T	3.37:g.197431564G>A						KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000296343.5_Silent_p.S104S|KIAA0226_ENST00000389665.5_Silent_p.S104S	p.S44S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	677	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		104					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.132C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332689	0.05314	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	4.75	0.60458	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	.	12.2711	0.54706	0.1033:0.0:0.8967:0.0	.	.	.	.	C	83	.	.	R	-	1	0	KIAA0226	198915961	1.000000	0.71417	0.480000	0.27341	0.202000	0.24057	3.885000	0.56182	1.123000	0.41961	0.643000	0.83706	CGT		0.542	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		14	207	0	0	0	1	0	14	207					A	197431564	G	A	197431564	2	1	79	1	0	0	0	0	0	0	0	1	8192	1078	38	1		1	KIAA0226	3	197431564	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	197431564	590866	4983	15300											
LRCH3	84859	broad.mit.edu	37	chr3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttttagacctgtcgCgaaatcgcctttcagaaatt	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000425562.2	+	2	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	91						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		AGACCTGTCGCGAAATCGCCT	0.299																																						ENST00000438796.2																			0				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						c.(271-273)Cga>Tga		leucine-rich repeats and calponin homology (CH) domain containing 3							39	42	41					3																	197541787		2200	4296	6496	SO:0001587	stop_gained	84859					extracellular region		g.chr3:197541787C>T	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.271C>T	3.37:g.197541787C>T	ENSP00000393579:p.Arg91*					LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*	p.R91*			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)	2	315	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		91					B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37	c.271C>T		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012238	0.93346	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1685	13.5675	0.61826	0.4031:0.5969:0.0:0.0	.	.	.	.	X	91	.	ENSP00000334375:R91X	R	+	1	2	LRCH3	199026184	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.360000	0.45960	0.650000	0.86243	CGA		0.299	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		40	161	0	0	0	1	0	40	161					T	197541787	C	T	197541787	4	4	79	1	0	0	0	0	0	1	0	0	8972	760	27	1	277	1	LRCH3	3	197541787	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110223	197541787	480643	4984	15301											
LRCH3	84859	broad.mit.edu	37	chr3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccagtaaagccagtaGccattagggagtttcaaaaa	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000425562.2	+	10	1273	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				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)		AAAGCCAGTAGCCATTAGGGA	0.333																																						ENST00000438796.2																			0				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						c.(1273-1275)Gcc>Acc		leucine-rich repeats and calponin homology (CH) domain containing 3							52	53	53					3																	197566213		2203	4298	6501	SO:0001583	missense	84859					extracellular region		g.chr3:197566213G>A	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.1273G>A	3.37:g.197566213G>A	ENSP00000393579:p.Ala425Thr					LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000425562.2_Missense_Mutation_p.A425T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T	p.A425T			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)	10	1317	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		425					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	LRCH3	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC		0.333	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		33	152	0	0	0	1	0	33	152					A	197566213	G	A	197566213	3	1	79	1	0	0	0	0	1	0	0	0	8972	971	34	2	1311	2	LRCH3	3	197566213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24426	197566213	456217	4985	15302											
IQCG	84223	broad.mit.edu	37	chr3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaaactccacagcgaaccGgcctctgtgtctgatttctg	9	12	3	1	rs139671579	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428													G|||	4	0.000798722	0.0	0.0	5008	,	,		17292	0.0		0.001	False		,,,				2504	0.0031					ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(412-414)Cgg>Tgg		IQ motif containing G		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	270	273	272		412,412	4.3	0.1	3	dbSNP_134	272	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging,possibly-damaging	138/444,138/444	197665522	10,12996	2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665522G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.412C>T	3.37:g.197665522G>A	ENSP00000265239:p.Arg138Trp					IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	836	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		138					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.412C>T	CCDS3331.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.15	2.749213	0.49257	0.0	0.001163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.9;0.9;0.99;0.9	4.32	4.32	0.51571	.	1.640010	0.03032	N	0.152233	T	0.33381	0.0861	N	0.08118	0	0.09310	N	1	D;P	0.62365	0.991;0.914	P;B	0.46975	0.533;0.431	T	0.37979	-0.9682	10	0.72032	D	0.01	-10.3603	9.0042	0.36102	0.1056:0.0:0.8944:0.0	.	138;138	C9JKX8;Q9H095	.;IQCG_HUMAN	W	138;138;138;119	ENSP00000265239:R138W;ENSP00000407736:R138W;ENSP00000389897:R138W;ENSP00000406411:R119W	ENSP00000265239:R138W	R	-	1	2	IQCG	199149919	0.052000	0.20516	0.060000	0.19600	0.004000	0.04260	2.450000	0.44943	2.345000	0.79718	0.558000	0.71614	CGG		0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		285	1382	0	0	0	1	0	285	1382					A	197665522	G	A	197665522	3	1	79	1	0	0	0	0	1	0	0	0	7840	1115	39	1	951	1	IQCG	3	197665522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99309	197665522	356908	4986	15303											
IQCG	84223	broad.mit.edu	37	chr3	197665544	197665544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtgtctgatttctggCaagttgggtccttcctcagt	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	130						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)ttG>ttA		IQ motif containing G							258	265	263					3																	197665544		2203	4300	6503	SO:0001819	synonymous_variant	84223							g.chr3:197665544C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.390G>A	3.37:g.197665544C>T						IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR	p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	814	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		130					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.390G>A	CCDS3331.1																																																																																				0.433	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		281	1361	0	0	0	1	0	281	1361					T	197665544	C	T	197665544	2	4	79	1	0	0	0	0	0	0	0	1	7840	709	25	2		2	IQCG	3	197665544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	197665544	356886	4987	15304											
ZNF732	654254	broad.mit.edu	37	chr4	265610	265610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttcattcagaactgaggAcctactaaaggctttgccac	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:265610A>G	ENST00000419098.1	-	4	1046	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AGAACTGAGGACCTACTAAAG	0.393																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1036-1038)Tcc>Ccc		zinc finger protein 732							48	44	45					4																	265610		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265610A>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1036T>C	4.37:g.265610A>G	ENSP00000415774:p.Ser346Pro						p.S346P	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	1046	-			346						Missense_Mutation	SNP	ENST00000419098.1	37	c.1036T>C	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	5.439	0.266147	0.10294	.	.	ENSG00000186777	ENST00000419098	T	0.36699	1.24	0.977	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43787	0.1263	L	0.50919	1.6	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.32402	-0.9908	9	0.33940	T	0.23	.	3.3896	0.07283	0.4025:0.0:0.0:0.5975	.	346	B4DXR9	ZN732_HUMAN	P	346	ENSP00000415774:S346P	ENSP00000415774:S346P	S	-	1	0	ZNF732	255610	0.000000	0.05858	0.095000	0.20976	0.087000	0.18053	-0.790000	0.04604	0.338000	0.23692	0.329000	0.21502	TCC		0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		29	127	0	0	0	1	0	29	127					G	265610	A	G	265610	3	3	79	1	0	0	0	0	1	0	0	0	18176	275	10	4	725	4	ZNF732	4	265610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		265610	190888666	4988	15305											
ZNF732	654254	broad.mit.edu	37	chr4	266376	266376	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtggaacgaatcttctatCccctgcactggcaaaaagtc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:266376C>T	ENST00000419098.1	-	4	280	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(268-270)ggG>ggA		zinc finger protein 732							47	37	40					4																	266376		692	1591	2283	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:266376C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.270G>A	4.37:g.266376C>T							p.G90G	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	280	-			90						Silent	SNP	ENST00000419098.1	37	c.270G>A	CCDS46990.1																																																																																				0.328	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		9	99	0	0	0	1	0	9	99					T	266376	C	T	266376	2	4	79	1	0	0	0	0	0	0	0	1	18176	842	30	2		2	ZNF732	4	266376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	766	266376	190887900	4989	15306											
ZNF141	7700	broad.mit.edu	37	chr4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactttgccaaacataagCgaattcatactggagagaaa	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(907-909)Cga>Tga		zinc finger protein 141							75	85	82					4																	367133		2202	4299	6501	SO:0001587	stop_gained	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367133C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.907C>T	4.37:g.367133C>T	ENSP00000240499:p.Arg303*					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R303*	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1056	+			303					Q6DK07	Nonsense_Mutation	SNP	ENST00000240499.7	37	c.907C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	ZNF141	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		65	371	0	0	0	1	0	65	371					T	367133	C	T	367133	4	4	79	1	0	0	0	0	0	1	0	0	17783	760	27	1	921	1	ZNF141	4	367133	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100757	367133	190787143	4990	15307											
ZNF141	7700	broad.mit.edu	37	chr4	367319	367319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagttcatactggagagCggccctacaaatgtgatgaa	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	ENST00000240499.7	+	4	1242	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	365					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TACTGGAGAGCGGCCCTACAA	0.408																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1093-1095)Cgg>Tgg		zinc finger protein 141							38	40	40					4																	367319		2203	4299	6502	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367319C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1093C>T	4.37:g.367319C>T	ENSP00000240499:p.Arg365Trp					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R365W	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1242	+			365					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1093C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212050	0.58452	.	.	ENSG00000131127	ENST00000240499	T	0.20332	2.08	1.24	-0.479	0.12089	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.68317	2.08	0.23036	N	0.998398	D	0.56746	0.977	P	0.58780	0.845	T	0.14227	-1.0480	8	.	.	.	.	5.2197	0.15362	0.6988:0.3011:0.0:0.0	.	365	Q15928	ZN141_HUMAN	W	365	ENSP00000240499:R365W	.	R	+	1	2	ZNF141	357319	0.822000	0.29219	0.010000	0.14722	0.560000	0.35617	1.523000	0.35932	-0.405000	0.07599	-0.875000	0.02981	CGG		0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		72	236	0	0	0	1	0	72	236					T	367319	C	T	367319	3	4	79	1	0	0	0	0	1	0	0	0	17783	759	27	1	1107	1	ZNF141	4	367319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	367319	190786957	4991	15308											
ZNF141	7700	broad.mit.edu	37	chr4	367647	367647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaacataagaaaattcataCttgagagaaatcctacaaat	4	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	474			T -> I (in PAPA6). {ECO:0000269|PubMed:23160277}.		anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1420-1422)aCt>aAt		zinc finger protein 141							48	54	52					4																	367647		2190	4287	6477	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367647C>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1421C>A	4.37:g.367647C>A	ENSP00000240499:p.Thr474Asn					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.T474N	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1570	+			474					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1421C>A	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004459	0.35320	.	.	ENSG00000131127	ENST00000240499	T	0.07444	3.19	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.54863	1.705	0.23594	N	0.997339	D	0.76494	0.999	D	0.81914	0.995	T	0.11842	-1.0571	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	474	Q15928	ZN141_HUMAN	N	474	ENSP00000240499:T474N	.	T	+	2	0	ZNF141	357647	0.021000	0.18746	0.018000	0.16275	0.226000	0.24999	0.903000	0.28475	0.591000	0.29711	0.313000	0.20887	ACT		0.328	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		72	303	1	0	2.40655e-23	1	2.73437e-23	72	303					A	367647	C	A	367647	3	1	79	1	0	0	0	0	1	0	0	0	17783	565	20	3	1435	3	ZNF141	4	367647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328	367647	190786629	4992	15309											
PIGG	54872	broad.mit.edu	37	chr4	524230	524230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcttttttaggggtaTtattgaagctcgttttgttt	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	756					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTAGGGGTATTATTGAAGCT	0.378																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2266-2268)aTt>aGt		phosphatidylinositol glycan anchor biosynthesis, class G							100	100	100					4																	524230		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524230T>G		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2267T>G	4.37:g.524230T>G	ENSP00000415203:p.Ile756Ser					PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S	p.I756S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			11	2373	+			756					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2267T>G	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381845	0.61845	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12569	2.99;2.99;2.67;2.67	5.62	5.62	0.85841	.	0.143965	0.64402	D	0.000007	T	0.18341	0.0440	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.702;0.729;0.823	B;B;B	0.42495	0.294;0.218;0.389	T	0.05099	-1.0906	10	0.16420	T	0.52	-14.3867	14.0652	0.64824	0.0:0.0:0.0:1.0	.	623;756;748	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	748;756;667;623	ENSP00000311750:I748S;ENSP00000415203:I756S;ENSP00000424800:I667S;ENSP00000372494:I623S	ENSP00000311750:I748S	I	+	2	0	PIGG	514230	1.000000	0.71417	0.027000	0.17364	0.974000	0.67602	5.364000	0.66110	2.263000	0.75096	0.533000	0.62120	ATT		0.378	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		73	391	0	0	0	1	0	73	391					G	524230	T	G	524230	3	3	79	1	0	0	0	0	1	0	0	0	11930	1493	52	4	2309	4	PIGG	4	524230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156583	524230	190630046	4993	15310											
PIGG	54872	broad.mit.edu	37	chr4	527709	527709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacagcgtttgggacgTacgcagggcctgtgctgtgg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2674-2676)Tac>Cac		phosphatidylinositol glycan anchor biosynthesis, class G							90	78	82					4																	527709		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:527709T>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2674T>C	4.37:g.527709T>C	ENSP00000415203:p.Tyr892His					PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H	p.Y892H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			12	2780	+			892					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2674T>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC		0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		52	281	0	0	0	1	0	52	281					C	527709	T	C	527709	3	2	79	1	0	0	0	0	1	0	0	0	11930	1638	57	4	2720	4	PIGG	4	527709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3479	527709	190626567	4994	15311											
PDE6B	5158	broad.mit.edu	37	chr4	619547	619547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggtgcccgccggactgCgacagcctccgggacctctg	15	16	1	0	rs199974771	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000496514.1	+	1	153	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000255622.6_Silent_p.C44C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CGCCGGACTGCGACAGCCTCC	0.632																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(130-132)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta							38	41	40					4																	619547		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619547C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.132C>T	4.37:g.619547C>T						PDE6B_ENST00000496514.1_Silent_p.C44C	p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	175	+			44					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.132C>T	CCDS33932.1																																																																																				0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		34	321	0	0	0	1	0	34	321					T	619547	C	T	619547	2	4	79	1	0	0	0	0	0	0	0	1	11688	776	27	1		1	PDE6B	4	619547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91838	619547	190534729	4995	15312											
PDE6B	5158	broad.mit.edu	37	chr4	649781	649781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccttccaagctacgtgGcagaaagcggctttgtgagt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000496514.1	+	7	1066	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDE6B_ENST00000255622.6_Missense_Mutation_p.A349T|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	349	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AAGCTACGTGGCAGAAAGCGG	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1045-1047)Gca>Aca		phosphodiesterase 6B, cGMP-specific, rod, beta							96	82	87					4																	649781		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:649781G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1045G>A	4.37:g.649781G>A	ENSP00000420295:p.Ala349Thr					PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T|PDE6B_ENST00000496514.1_Missense_Mutation_p.A349T	p.A349T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			7	1088	+			349			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1045G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098517	0.94197	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000487902;ENST00000429163	T;T;T;T	0.76186	-0.47;-0.47;-1.0;-0.47	4.94	4.94	0.65067	GAF (2);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.92555	3.32	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.59643	0.861;0.783	D	0.90962	0.4813	10	0.87932	D	0	.	15.6552	0.77129	0.0:0.0:1.0:0.0	.	349;349	P35913;P35913-2	PDE6B_HUMAN;.	T	349;349;70;70	ENSP00000255622:A349T;ENSP00000420295:A349T;ENSP00000418256:A70T;ENSP00000406334:A70T	ENSP00000255622:A349T	A	+	1	0	PDE6B	639781	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.409000	0.97331	2.275000	0.75901	0.561000	0.74099	GCA		0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		52	243	0	0	0	1	0	52	243					A	649781	G	A	649781	3	1	79	1	0	0	0	0	1	0	0	0	11688	1203	42	2	1071	2	PDE6B	4	649781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30234	649781	190504495	4996	15313											
PDE6B	5158	broad.mit.edu	37	chr4	655986	655986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcacctaccacaactggCgccacggcttcaacgtggcc	9	16	2	0	rs201541131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	ENST00000496514.1	+	13	1699	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PDE6B_ENST00000255622.6_Missense_Mutation_p.R560C|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C|RP11-1191J2.5_ENST00000609172.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	560					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCACAACTGGCGCCACGGCTT	0.622													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1678-1680)Cgc>Tgc		phosphodiesterase 6B, cGMP-specific, rod, beta							50	39	42					4																	655986		2197	4289	6486	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:655986C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1678C>T	4.37:g.655986C>T	ENSP00000420295:p.Arg560Cys					PDE6B_ENST00000496514.1_Missense_Mutation_p.R560C|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C	p.R560C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			13	1721	+			560					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1678C>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544052	0.65198	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78816	-1.21;-1.21;-1.21	4.41	3.54	0.40534	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.924	D	0.88428	0.3033	10	0.87932	D	0	.	11.1833	0.48642	0.1854:0.8145:0.0:0.0	.	560;560	P35913;P35913-2	PDE6B_HUMAN;.	C	560;560;281	ENSP00000255622:R560C;ENSP00000420295:R560C;ENSP00000406334:R281C	ENSP00000255622:R560C	R	+	1	0	PDE6B	645986	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.559000	0.36320	0.800000	0.34041	0.558000	0.71614	CGC		0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		11	43	0	0	0	1	0	11	43					T	655986	C	T	655986	3	4	79	1	0	0	0	0	1	0	0	0	11688	768	27	1	1728	1	PDE6B	4	655986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6205	655986	190498290	4997	15314											
PDE6B	5158	broad.mit.edu	37	chr4	661780	661780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaggaggaggagaggGtggcagccaagaaaggtctg	20	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000496514.1	+	21	2509	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	830					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGAGGAGAGGGTGGCAGCCAA	0.552																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2488-2490)Gtg>Atg		phosphodiesterase 6B, cGMP-specific, rod, beta							78	85	82					4																	661780		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:661780G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2488G>A	4.37:g.661780G>A	ENSP00000420295:p.Val830Met					PDE6B_ENST00000496514.1_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M	p.V830M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			21	2531	+			830					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2488G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	g	7.518	0.656106	0.14580	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66280	-0.05;-0.04;-0.2	4.23	-3.38	0.04883	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.289310	0.05632	N	0.581881	T	0.34658	0.0905	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.004;0.009	T	0.23154	-1.0196	10	0.48119	T	0.1	.	5.6111	0.17406	0.3723:0.3678:0.2599:0.0	.	830;830	P35913;P35913-2	PDE6B_HUMAN;.	M	830;830;551	ENSP00000255622:V830M;ENSP00000420295:V830M;ENSP00000406334:V551M	ENSP00000255622:V830M	V	+	1	0	PDE6B	651780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.301000	0.08882	-0.856000	0.03024	GTG		0.552	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		108	513	0	0	0	1	0	108	513					A	661780	G	A	661780	3	1	79	1	0	0	0	0	1	0	0	0	11688	1261	44	2	2570	2	PDE6B	4	661780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5794	661780	190492496	4998	15315											
MFSD7	84179	broad.mit.edu	37	chr4	676148	676148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggtgcacaggccggCcatcagcagcagagacactg	14	11	1	2	rs200436837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000404286.2	-	10	1297	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	428					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13888	0.001		0.0	False		,,,				2504	0.0					ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1279-1281)Gcc>Acc		major facilitator superfamily domain containing 7							10	12	11					4																	676148		2033	4033	6066	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:676148C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1282G>A	4.37:g.676148C>T	ENSP00000384616:p.Ala428Thr					MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.A428T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T	p.A427T			Q6UXD7	MFSD7_HUMAN			10	1592	-			428					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1279G>A		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	21.0	4.078096	0.76528	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.26	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.061492	0.64402	D	0.000005	T	0.72542	0.3473	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.60575	0.988;0.988;0.454;0.976	P;P;B;P	0.61477	0.889;0.889;0.342;0.793	T	0.70260	-0.4921	10	0.28530	T	0.3	-16.8238	12.4069	0.55445	0.0:1.0:0.0:0.0	.	331;309;428;427	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	T	309;427;428;331	ENSP00000307545:A309T;ENSP00000320234:A427T;ENSP00000384616:A428T;ENSP00000423204:A331T	ENSP00000320234:A427T	A	-	1	0	MFSD7	666148	1.000000	0.71417	0.994000	0.49952	0.315000	0.28087	2.147000	0.42226	2.394000	0.81467	0.585000	0.79938	GCC		0.647	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		18	83	0	0	0	1	0	18	83					T	676148	C	T	676148	3	4	79	1	0	0	0	0	1	0	0	0	9578	739	26	2	404	2	MFSD7	4	676148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14368	676148	190478128	4999	15316											
MFSD7	84179	broad.mit.edu	37	chr4	676654	676654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtgccgtcattgccaGcatgatgagtattccctcgg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000404286.2	-	9	1195	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000322224.4_Silent_p.L393L	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	394					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1177-1179)Ctg>Ttg		major facilitator superfamily domain containing 7							81	67	72					4																	676654		2198	4299	6497	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:676654G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1180C>T	4.37:g.676654G>A						MFSD7_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000404286.2_Silent_p.L394L|MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000347950.5_Silent_p.L275L	p.L393L			Q6UXD7	MFSD7_HUMAN			9	1490	-			394					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.1177C>T																																																																																					0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		18	73	0	0	0	1	0	18	73					A	676654	G	A	676654	2	1	79	1	0	0	0	0	0	0	0	1	9578	962	34	2		2	MFSD7	4	676654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	676654	190477622	5000	15317											
GAK	2580	broad.mit.edu	37	chr4	845593	845593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccgatcacactgaagttCgaggcatagttaggccttgg	12	11	1	1	rs377418158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S1072S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667																																						ENST00000314167.4																			1	Substitution - coding silent(1)	p.S1151S(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3451-3453)tcG>tcA		cyclin G associated kinase		C		0,4406		0,0,2203	40	45	43		3453	-9.7	0	4		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GAK	NM_005255.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1151/1312	845593	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845593C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3453G>A	4.37:g.845593C>T						GAK_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	p.S1151S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3563	-			1151					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3453G>A	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	GAK	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA		0.667	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		77	378	0	0	0	1	0	77	378					T	845593	C	T	845593	2	4	79	1	0	0	0	0	0	0	0	1	6223	871	31	1		1	GAK	4	845593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168939	845593	190308683	5001	15318											
GAK	2580	broad.mit.edu	37	chr4	845717	845717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctttgggcgtggtgGccgttttgggaatgaagccc	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3328-3330)gCc>gTc		cyclin G associated kinase							50	58	56					4																	845717		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845717G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3329C>T	4.37:g.845717G>A	ENSP00000314499:p.Ala1110Val					GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	p.A1110V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3439	-			1110					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3329C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	GAK|GAK	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.642	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		43	175	0	0	0	1	0	43	175					A	845717	G	A	845717	3	1	79	1	0	0	0	0	1	0	0	0	6223	1203	42	2	622	2	GAK	4	845717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	845717	190308559	5002	15319											
GAK	2580	broad.mit.edu	37	chr4	860197	860197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggggcggagcactgtGggcagacgggaaggatggtg	23	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.H921Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1000					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2998-3000)Cac>Tac		cyclin G associated kinase							80	76	78					4																	860197		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860197G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2998C>T	4.37:g.860197G>A	ENSP00000314499:p.His1000Tyr					GAK_ENST00000511163.1_Missense_Mutation_p.H921Y|GAK_ENST00000509566.1_5'UTR	p.H1000Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	22	3108	-			1000					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2998C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.229|3.229	-0.157847|-0.157847	0.06544|0.06544	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78126|.	-0.7;-1.15|.	5.24|5.24	4.38|4.38	0.52667|0.52667	.|.	0.243165|.	0.40908|.	D|.	0.000991|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.60455|0.60455	1.87|1.87	0.38800|0.38800	D|D	0.955176|0.955176	B;P;B;B|.	0.40578|.	0.262;0.722;0.161;0.263|.	B;B;B;B|.	0.33454|.	0.147;0.164;0.104;0.067|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.49607|.	T|.	0.09|.	-30.6063|-30.6063	12.7363|12.7363	0.57225|0.57225	0.0:0.0:0.8341:0.1659|0.0:0.0:0.8341:0.1659	.|.	902;921;1000;885|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	Y|L	276;1000;921|119	ENSP00000314499:H1000Y;ENSP00000421361:H921Y|.	ENSP00000314499:H1000Y|.	H|P	-|-	1|2	0|0	GAK|GAK	850197|850197	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.033000|0.033000	0.12548|0.12548	3.085000|3.085000	0.50151|0.50151	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.627	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		42	266	0	0	0	1	0	42	266					A	860197	G	A	860197	3	1	79	1	0	0	0	0	1	0	0	0	6223	1348	47	2	965	2	GAK	4	860197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14480	860197	190294079	5003	15320											
GAK	2580	broad.mit.edu	37	chr4	871406	871406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgcactcaccgcAtcttgtcgtactcctgggag	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	618	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1852-1854)aTg>aCg		cyclin G associated kinase							47	43	45					4																	871406		2202	4299	6501	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871406A>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1853T>C	4.37:g.871406A>G	ENSP00000314499:p.Met618Thr					GAK_ENST00000511163.1_Missense_Mutation_p.M539T	p.M618T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1963	-			618			C2 tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1853T>C	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192949	0.78902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84800	-1.9;-1.9	5.71	5.71	0.89125	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.70487	0.938;0.92;0.969;0.969	D	0.92856	0.6301	10	0.72032	D	0.01	.	13.9333	0.64010	1.0:0.0:0.0:0.0	.	539;539;618;514	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	618;539	ENSP00000314499:M618T;ENSP00000421361:M539T	ENSP00000314499:M618T	M	-	2	0	GAK	861406	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	8.619000	0.90938	2.178000	0.69098	0.533000	0.62120	ATG		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		47	245	0	0	0	1	0	47	245					G	871406	A	G	871406	3	3	79	1	0	0	0	0	1	0	0	0	6223	217	8	4	2134	4	GAK	4	871406	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11209	871406	190282870	5004	15321											
GAK	2580	broad.mit.edu	37	chr4	877192	877192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagtccaggaacaaccGcacatcttcgatgttgtttt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	439	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1315-1317)Cgg>Tgg		cyclin G associated kinase							203	170	181					4																	877192		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:877192G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1315C>T	4.37:g.877192G>A	ENSP00000314499:p.Arg439Trp					GAK_ENST00000511163.1_Missense_Mutation_p.R360W	p.R439W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	13	1425	-			439			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1315C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029078	0.54790	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98567	-5.0;-5.0	5.34	4.48	0.54585	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.80982	2.52	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;0.968;0.997;0.995	D	0.99548	1.0965	10	0.87932	D	0	-36.7377	12.9889	0.58608	0.0:0.0:0.8372:0.1628	.	360;360;439;335	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	439;360	ENSP00000314499:R439W;ENSP00000421361:R360W	ENSP00000314499:R439W	R	-	1	2	GAK	867192	1.000000	0.71417	0.451000	0.26982	0.012000	0.07955	3.165000	0.50778	1.208000	0.43306	0.591000	0.81541	CGG		0.577	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		89	508	0	0	0	1	0	89	508					A	877192	G	A	877192	3	1	79	1	0	0	0	0	1	0	0	0	6223	1086	38	1	2684	1	GAK	4	877192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5786	877192	190277084	5005	15322											
GAK	2580	broad.mit.edu	37	chr4	887739	887739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgactattcgaagtttcGctccatcctcaaaagggtgc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(799-801)gCg>gTg		cyclin G associated kinase							98	66	77					4																	887739		2202	4297	6499	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887739G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.800C>T	4.37:g.887739G>A	ENSP00000314499:p.Ala267Val					GAK_ENST00000511163.1_Missense_Mutation_p.A188V	p.A267V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	8	910	-			267			Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.800C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772525	0.96922	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.66280	-0.2;-0.2	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050221	0.85682	D	0.000000	T	0.69833	0.3155	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-19.8381	15.7059	0.77580	0.0:0.0:1.0:0.0	.	188;188;267;163	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	V	267;188	ENSP00000314499:A267V;ENSP00000421361:A188V	ENSP00000314499:A267V	A	-	2	0	GAK	877739	1.000000	0.71417	0.762000	0.31397	0.971000	0.66376	6.812000	0.75226	2.291000	0.77112	0.563000	0.77884	GCG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		52	127	0	0	0	1	0	52	127					A	887739	G	A	887739	3	1	79	1	0	0	0	0	1	0	0	0	6223	1087	38	1	3219	1	GAK	4	887739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10547	887739	190266537	5006	15323											
TMEM175	84286	broad.mit.edu	37	chr4	944245	944245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagaggcttctggcaacaCggattgccgtctacctgatg	11	11	2	2	rs199536272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(229-231)Cgg>Tgg		transmembrane protein 175							133	116	122					4																	944245		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:944245C>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.229C>T	4.37:g.944245C>T	ENSP00000264771:p.Arg77Trp					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR	p.R77W	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	414	+			77					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.229C>T	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381533	0.42207	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	3.72	0.42706	.	0.133487	0.48767	D	0.000179	T	0.47488	0.1448	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.45381	-0.9265	10	0.87932	D	0	-9.1519	8.6409	0.33976	0.7942:0.2058:0.0:0.0	.	77	Q9BSA9	TM175_HUMAN	W	76;77;64;77	ENSP00000424746:R76W;ENSP00000264771:R77W;ENSP00000425181:R64W;ENSP00000425763:R77W	ENSP00000264771:R77W	R	+	1	2	TMEM175	934245	1.000000	0.71417	0.411000	0.26484	0.002000	0.02628	6.164000	0.71885	0.740000	0.32651	-0.424000	0.05967	CGG		0.577	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		99	421	0	0	0	1	0	99	421					T	944245	C	T	944245	3	4	79	1	0	0	0	0	1	0	0	0	16143	527	19	1	239	1	TMEM175	4	944245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56506	944245	190210031	5007	15324											
TMEM175	84286	broad.mit.edu	37	chr4	947071	947071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtaccgacgacacgtcCtgggcatcgtcctccaaggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	186						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(556-558)Ctg>Atg		transmembrane protein 175							130	108	115					4																	947071		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:947071C>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.556C>A	4.37:g.947071C>A	ENSP00000264771:p.Leu186Met					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M	p.L186M	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	741	+			186					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.556C>A	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.323824	0.41096	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.56275	1.16;0.47;0.79;0.54	4.93	3.94	0.45596	.	0.000000	0.64402	D	0.000010	T	0.63010	0.2475	M	0.65498	2.005	0.42111	D	0.991389	D;D;D	0.76494	0.991;0.983;0.999	P;P;D	0.67231	0.863;0.863;0.95	T	0.64791	-0.6324	10	0.52906	T	0.07	-0.6814	5.3876	0.16226	0.0:0.8163:0.0:0.1837	.	104;186;104	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	M	186;173;104;104;92;70;104;104	ENSP00000264771:L186M;ENSP00000425181:L173M;ENSP00000427039:L70M;ENSP00000423669:L104M	ENSP00000264771:L186M	L	+	1	2	TMEM175	937071	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	1.546000	0.36179	2.273000	0.75805	0.574000	0.79327	CTG		0.647	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		56	221	1	0	2.14674e-31	1	2.52731e-31	56	221					A	947071	C	A	947071	3	1	79	1	0	0	0	0	1	0	0	0	16143	680	24	3	582	3	TMEM175	4	947071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2826	947071	190207205	5008	15325											
TMEM175	84286	broad.mit.edu	37	chr4	952124	952124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttccacctcatgcAgatcgccgtgccctgcgcct	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	452						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1354-1356)cAg>cGg		transmembrane protein 175							54	52	52					4																	952124		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:952124A>G	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1355A>G	4.37:g.952124A>G	ENSP00000264771:p.Gln452Arg					TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	p.Q452R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1540	+			452					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1355A>G	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292900	0.40594	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.48522	1.43;1.4;0.81	5.05	5.05	0.67936	.	0.069000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.66939	2.045	0.35427	D	0.793693	P;D	0.53151	0.919;0.958	B;P	0.47528	0.395;0.549	T	0.58618	-0.7605	10	0.17832	T	0.49	-4.8199	11.1651	0.48539	1.0:0.0:0.0:0.0	.	370;452	D3DVN5;Q9BSA9	.;TM175_HUMAN	R	452;336;370	ENSP00000264771:Q452R;ENSP00000427039:Q336R;ENSP00000423669:Q370R	ENSP00000264771:Q452R	Q	+	2	0	TMEM175	942124	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.677000	0.74503	1.897000	0.54924	0.402000	0.26972	CAG		0.697	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		56	267	0	0	0	1	0	56	267					G	952124	A	G	952124	3	3	79	1	0	0	0	0	1	0	0	0	16143	188	7	4	1393	4	TMEM175	4	952124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5053	952124	190202152	5009	15326											
DGKQ	1609	broad.mit.edu	37	chr4	956377	956377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtagcccgccccccagCggaggactcgaccaaggtca	12	17	1	0	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	687	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2059-2061)cGc>cAc		diacylglycerol kinase, theta 110kDa		C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	41	40	40		2060	4.9	1	4	dbSNP_134	40	0,8598		0,0,4299	no	missense	DGKQ	NM_001347.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	687/943	956377	1,12995	2199	4299	6498	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956377C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2060G>A	4.37:g.956377C>T	ENSP00000273814:p.Arg687His						p.R687H	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2133	-			687			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2060G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519485|5.519485	0.96416|0.96416	2.27E-4|2.27E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.42131	.|0.98	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62183|0.62183	0.2407|0.2407	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.65105|0.65105	-0.6249|-0.6249	5|10	.|0.66056	.|D	.|0.02	.|.	15.9132|15.9132	0.79488|0.79488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|687;687	.|E9KL49;P52824	.|.;DGKQ_HUMAN	T|H	621|687	.|ENSP00000273814:R687H	.|ENSP00000273814:R687H	A|R	-|-	1|2	0|0	DGKQ|DGKQ	946377|946377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.367000|7.367000	0.79558|0.79558	2.395000|2.395000	0.81488|0.81488	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			45	206	0	0	0	1	0	45	206					T	956377	C	T	956377	3	4	79	1	0	0	0	0	1	0	0	0	4489	768	27	1	792	1	DGKQ	4	956377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4253	956377	190197899	5010	15327											
DGKQ	1609	broad.mit.edu	37	chr4	962266	962266	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggccggtacactcaCgtgatcctggtgcccatcct	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1		DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.e4+1		diacylglycerol kinase, theta 110kDa							16	18	17					4																	962266		2182	4285	6467	SO:0001630	splice_region_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:962266C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.537+1G>A	4.37:g.962266C>T								NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	611	-								Q6P3W4	Splice_Site	SNP	ENST00000273814.3	37		CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047660	0.36085	.	.	ENSG00000145214	ENST00000273814;ENST00000509465;ENST00000510286	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7929	0.69857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKQ	952266	1.000000	0.71417	0.854000	0.33618	0.061000	0.15899	5.246000	0.65411	2.052000	0.61016	0.556000	0.70494	.		0.701	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		Intron	14	45	0	0	0	1	0	14	45					T	962266	C	T	962266	5	4	79	1	0	0	0	0	0	0	1	0	4489	550	19	1	2370	1	DGKQ	4	962266	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5889	962266	190192010	5011	15328											
IDUA	3425	broad.mit.edu	37	chr4	995495	995495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactacgatgcctgctcGgagggtctgcgcgccgccag	13	14	1	0	rs377312287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000247933.4	+	6	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000453894.1_Silent_p.S159S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	206					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGCCTGCTCGGAGGGTCTGC	0.716																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(475-477)tcG>tcA		iduronidase, alpha-L-	Laronidase(DB00090)	G		0,4382		0,0,2191	12	14	13		618	-10	0.7	4		13	1,8559		0,1,4279	no	coding-synonymous	IDUA	NM_000203.3		0,1,6470	AA,AG,GG		0.0117,0.0,0.0077		206/654	995495	1,12941	2191	4280	6471	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995495G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.618G>A	4.37:g.995495G>A						IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000247933.4_Silent_p.S206S	p.S159S			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	565	+			206					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.477G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382540	0.11524	0.0	1.17E-4	ENSG00000127415	ENST00000504568	.	.	.	5.05	-9.97	0.00440	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-18.6917	2.4043	0.04409	0.1133:0.2242:0.3235:0.3391	.	.	.	.	Q	193	.	.	R	+	2	0	IDUA	985495	0.000000	0.05858	0.727000	0.30756	0.515000	0.34225	-3.415000	0.00479	-1.651000	0.01504	-2.577000	0.00169	CGG		0.716	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		28	86	0	0	0	1	0	28	86					A	995495	G	A	995495	2	1	79	1	0	0	0	0	0	0	0	1	7534	1103	39	1		1	IDUA	4	995495	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33229	995495	190158781	5012	15329											
FGFRL1	53834	broad.mit.edu	37	chr4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggacggcccgcgaccGcagcggagacaaggaccttc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	426					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1276-1278)cGc>cAc		fibroblast growth factor receptor-like 1							12	13	13					4																	1018897		2183	4264	6447	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018897G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1277G>A	4.37:g.1018897G>A	ENSP00000381498:p.Arg426His					FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H	p.R426H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1857	+			426					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1277G>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967696	0.34754	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.26	4.26	0.50523	.	0.124081	0.53938	D	0.000042	T	0.56381	0.1981	L	0.33485	1.01	0.58432	D	0.999996	B	0.33694	0.421	B	0.28553	0.091	T	0.55095	-0.8194	10	0.13853	T	0.58	-20.067	15.7273	0.77770	0.0:0.0:1.0:0.0	.	426	Q8N441	FGRL1_HUMAN	H	426;396;426;426;426	ENSP00000381498:R426H;ENSP00000425025:R426H;ENSP00000423091:R426H;ENSP00000264748:R426H	ENSP00000264748:R426H	R	+	2	0	FGFRL1	1008897	0.214000	0.23563	0.659000	0.29680	0.023000	0.10783	1.039000	0.30266	1.943000	0.56356	0.456000	0.33151	CGC		0.726	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		24	126	0	0	0	1	0	24	126					A	1018897	G	A	1018897	3	1	79	1	0	0	0	0	1	0	0	0	5894	1087	38	1	1299	1	FGFRL1	4	1018897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23402	1018897	190135379	5013	15330											
RNF212	285498	broad.mit.edu	37	chr4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccctttgtacctcagcaTatattggaagtgttttagag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	256					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433731.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(766-768)tAt>tGt		ring finger protein 212							110	110	110					4																	1066789		2203	4300	6503	SO:0001583	missense	285498						zinc ion binding	g.chr4:1066789T>C	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.767A>G	4.37:g.1066789T>C	ENSP00000389709:p.Tyr256Cys		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_ENST00000382968.5_3'UTR	p.Y256C			Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	10	828	-			256					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.767A>G	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	T	1.736	-0.492944	0.04322	.	.	ENSG00000178222	ENST00000433731	T	0.55234	0.53	1.49	-2.98	0.05513	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12734	-1.0536	9	0.87932	D	0	.	6.8661	0.24094	0.0:0.3195:0.0:0.6805	.	256	Q495C1	RN212_HUMAN	C	256	ENSP00000389709:Y256C	ENSP00000389709:Y256C	Y	-	2	0	RNF212	1056789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.213000	0.02991	-1.391000	0.02085	-1.122000	0.02009	TAT		0.527	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		48	226	0	0	0	1	0	48	226					C	1066789	T	C	1066789	3	2	79	1	0	0	0	0	1	0	0	0	13526	1406	49	4	130	4	RNF212	4	1066789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47892	1066789	190087487	5014	15331											
SPON2	10417	broad.mit.edu	37	chr4	1165096	1165096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccgccgacgtctgcccGgtgccgctggggacggcggg	18	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	133	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(397-399)acC>acT		spondin 2, extracellular matrix protein							5	6	6					4																	1165096		1766	3620	5386	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165096G>A	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.399C>T	4.37:g.1165096G>A						SPON2_ENST00000431380.1_Silent_p.T133T	p.T133T	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	731	-			133			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.399C>T	CCDS3347.1																																																																																				0.791	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			20	65	0	0	0	1	0	20	65					A	1165096	G	A	1165096	2	1	79	1	0	0	0	0	0	0	0	1	15135	1103	39	1		1	SPON2	4	1165096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98307	1165096	189989180	5015	15332											
MAEA	10296	broad.mit.edu	37	chr4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaaacgctttcgcgccGctcagaagaacattgaccgg	10	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTTTCGCGCCGCTCAGAAGAA	0.642																																						ENST00000303400.4																			1	Substitution - Missense(1)	p.A36T(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(106-108)Gct>Act		macrophage erythroblast attacher							71	57	62					4																	1305803		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1305803G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.106G>A	4.37:g.1305803G>A	ENSP00000302830:p.Ala36Thr					MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T	p.A36T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		2	169	+			36			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.106G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	MAEA	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT		0.642	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		52	228	0	0	0	1	0	52	228					A	1305803	G	A	1305803	3	1	79	1	0	0	0	0	1	0	0	0	9192	1087	38	1	112	1	MAEA	4	1305803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140707	1305803	189848473	5016	15333											
KIAA1530	57654	broad.mit.edu	37	chr4	1346849	1346849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaattgaatcctgcttgacGgaggtagagagctgctttag	13	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1346849G>A	ENST00000389851.4	+	5	1029	c.582G>A	c.(580-582)acG>acA	p.T194T	UVSSA_ENST00000511216.1_Silent_p.T194T|UVSSA_ENST00000507531.1_Silent_p.T194T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	194					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCTGCTTGACGGAGGTAGAGA	0.532																																						ENST00000389851.4																			0											c.(580-582)acG>acA		UV-stimulated scaffold protein A							47	47	47					4																	1346849		2200	4290	6490	SO:0001819	synonymous_variant	57654							g.chr4:1346849G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.582G>A	4.37:g.1346849G>A						UVSSA_ENST00000511216.1_Silent_p.T194T|UVSSA_ENST00000507531.1_Silent_p.T194T	p.T194T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			5	1029	+			194					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.582G>A	CCDS33938.1																																																																																				0.532	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		63	253	0	0	0	1	0	63	253					A	1346849	G	A	1346849	2	1	79	1	0	0	0	0	0	0	0	1	8271	1103	39	1		1	KIAA1530	4	1346849	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41046	1346849	189807427	5017	15334											
FAM53A	152877	broad.mit.edu	37	chr4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagacccatggtgtgagCggcagcagacaggcccggca	15	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000308132.6	-	4	427	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	79						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(235-237)Gct>Act		family with sequence similarity 53, member A							7	7	7					4																	1657352		1854	3738	5592	SO:0001583	missense	152877					nucleus		g.chr4:1657352C>T	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.235G>A	4.37:g.1657352C>T	ENSP00000310057:p.Ala79Thr					FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T	p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	427	-		all_epithelial(65;0.206)|Breast(71;0.212)	79					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.235G>A	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278835	0.40294	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.87	0.913	0.19354	.	1.057190	0.07555	U	0.916117	T	0.36635	0.0974	L	0.46157	1.445	0.09310	N	1	P;D	0.58268	0.951;0.982	B;P	0.44518	0.32;0.452	T	0.20672	-1.0268	10	0.46703	T	0.11	-6.3993	5.2949	0.15747	0.5219:0.3708:0.0:0.1073	.	79;79	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	79	ENSP00000310057:A79T;ENSP00000419044:A79T;ENSP00000418243:A79T;ENSP00000426260:A79T;ENSP00000417615:A79T	ENSP00000310057:A79T	A	-	1	0	FAM53A	1627149	0.060000	0.20803	0.001000	0.08648	0.003000	0.03518	0.705000	0.25675	-0.275000	0.09219	-0.490000	0.04691	GCT		0.667	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		19	61	0	0	0	1	0	19	61					T	1657352	C	T	1657352	3	4	79	1	0	0	0	0	1	0	0	0	5604	768	27	1	969	1	FAM53A	4	1657352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310503	1657352	189496924	5018	15335											
FGFR3	2261	broad.mit.edu	37	chr4	1801214	1801214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggcagcggctcacgCagcgcgtactgtgccacttc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	ENST00000260795.2	+	2	445	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	115	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCGGCTCACGCAGCGCGTACT	0.697		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(343-345)Cag>Tag		fibroblast growth factor receptor 3	Palifermin(DB00039)																																			SO:0001587	stop_gained	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1801214C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.343C>T	4.37:g.1801214C>T	ENSP00000260795:p.Gln115*					FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000260795.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*	p.Q115*	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		3	599	+		Breast(71;0.212)|all_epithelial(65;0.241)	115			Ig-like C2-type 1.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Nonsense_Mutation	SNP	ENST00000260795.2	37	c.343C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463235	0.43736	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	.	.	.	3.45	3.45	0.39498	.	0.418094	0.24249	N	0.040184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.8206	0.35023	0.2245:0.7755:0.0:0.0	.	.	.	.	X	115	.	ENSP00000260795:Q115X	Q	+	1	0	FGFR3	1771012	0.000000	0.05858	0.058000	0.19502	0.197000	0.23852	-0.292000	0.08332	1.855000	0.53841	0.407000	0.27541	CAG		0.697	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		4	53	0	0	0	1	0	4	53					T	1801214	C	T	1801214	4	4	79	1	0	0	0	0	0	1	0	0	5892	711	25	2	349	2	FGFR3	4	1801214	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143862	1801214	189353062	5019	15336											
FGFR3	2261	broad.mit.edu	37	chr4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcgggcgctaacaccaccGacaaggagctagaggttctc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000260795.2	+	7	1054	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	318	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TAACACCACCGACAAGGAGCT	0.607		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000440486.2		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(952-954)Gac>Aac		fibroblast growth factor receptor 3	Palifermin(DB00039)						80	75	77					4																	1805440		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805440G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.952G>A	4.37:g.1805440G>A	ENSP00000260795:p.Asp318Asn					FGFR3_ENST00000260795.2_Missense_Mutation_p.D318N|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron	p.D318N	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1208	+		Breast(71;0.212)|all_epithelial(65;0.241)	318			Ig-like C2-type 3.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.952G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.433429	0.62844	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	D;D;D;T	0.96041	-3.89;-3.89;-3.89;-1.33	4.29	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212673	0.48286	D	0.000196	D	0.92149	0.7511	L	0.33792	1.035	0.80722	D	1	P;P;B;P	0.47762	0.9;0.824;0.142;0.558	P;B;B;B	0.46026	0.501;0.336;0.081;0.076	D	0.89021	0.3435	10	0.25106	T	0.35	.	12.1103	0.53836	0.085:0.0:0.915:0.0	.	281;318;318;318	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	318;318;318;104	ENSP00000420533:D318N;ENSP00000414914:D318N;ENSP00000260795:D318N;ENSP00000427289:D104N	ENSP00000260795:D318N	D	+	1	0	FGFR3	1775238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	0.908000	0.36671	0.561000	0.74099	GAC		0.607	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		39	186	0	0	0	1	0	39	186					A	1805440	G	A	1805440	3	1	79	1	0	0	0	0	1	0	0	0	5892	1058	37	1	1133	1	FGFR3	4	1805440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4226	1805440	189348836	5020	15337											
FGFR3	2261	broad.mit.edu	37	chr4	1805556	1805556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgcgtggctggtggtGctgccaggtaccggcttctg	15	12	2	0	rs201947443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000260795.2	+	7	1170	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Silent_p.V356V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	356					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCTGGTGGTGCTGCCAGGTA	0.617		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				g|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					ENST00000440486.2		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1066-1068)gtG>gtA		fibroblast growth factor receptor 3	Palifermin(DB00039)						96	96	96					4																	1805556		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805556G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1068G>A	4.37:g.1805556G>A						FGFR3_ENST00000260795.2_Silent_p.V356V|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron	p.V356V	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1324	+		Breast(71;0.212)|all_epithelial(65;0.241)	356					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1068G>A	CCDS3353.1																																																																																				0.617	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		70	360	0	0	0	1	0	70	360					A	1805556	G	A	1805556	2	1	79	1	0	0	0	0	0	0	0	1	5892	1306	46	2		2	FGFR3	4	1805556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	1805556	189348720	5021	15338											
FGFR3	2261	broad.mit.edu	37	chr4	1806180	1806181	+	Frame_Shift_Ins	INS	-	-	C													acgctctgccgcctgcgcagINScccccccaagaaaggcctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1806180_1806181insC	ENST00000260795.2	+	8	1301_1302	c.1199_1200insC	c.(1198-1203)agccccfs	p.SP400fs	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.SP402fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.SP400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.SP400fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	400					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1204-1206)accfs		fibroblast growth factor receptor 3	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806180_1806181insC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1206dupC	4.37:g.1806187_1806187dupC	ENSP00000260795:p.Ser400fs					FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.T400fs	p.T402fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1461_1462	+		Breast(71;0.212)|all_epithelial(65;0.241)	400					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	ENST00000260795.2	37	c.1205_1206insC	CCDS3353.1																																																																																				0.629	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		91	2377						91	2377	---	---	---	---	C	1806181	-	C	1806180	7	5	79	1	0	1	1	0	0	0	0	0	5892	971	34	0	1384	0	FGFR3	4	1806180	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	624	1806180	189348096	5022	15339											
FGFR3	2261	broad.mit.edu	37	chr4	1807392	1807392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcgcctgcacgcaGggcggtaggtgcggtagcgg	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000260795.2	+	11	1743	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000440486.2_Silent_p.Q547Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTGCACGCAGGGCGGTAGGT	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1645-1647)caG>caA		fibroblast growth factor receptor 3	Palifermin(DB00039)						55	51	53					4																	1807392		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807392G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1641G>A	4.37:g.1807392G>A						FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000260795.2_Silent_p.Q547Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q	p.Q549Q	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		12	1903	+		Breast(71;0.212)|all_epithelial(65;0.241)	547			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1647G>A	CCDS3353.1																																																																																				0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		63	291	0	0	0	1	0	63	291					A	1807392	G	A	1807392	2	1	79	1	0	0	0	0	0	0	0	1	5892	991	35	2		2	FGFR3	4	1807392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1212	1807392	189346884	5023	15340											
FGFR3	2261	broad.mit.edu	37	chr4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaccccggcatccctgTggaggagctcttcaagctgc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000260795.2	+	15	2201	c.2099T>C	c.(2098-2100)gTg>gCg	p.V700A	FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCATCCCTGTGGAGGAGCTC	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2104-2106)gTg>gCg		fibroblast growth factor receptor 3	Palifermin(DB00039)						37	38	38					4																	1808341		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808341T>C	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2099T>C	4.37:g.1808341T>C	ENSP00000260795:p.Val700Ala					FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000260795.2_Missense_Mutation_p.V700A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A	p.V702A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		16	2361	+		Breast(71;0.212)|all_epithelial(65;0.241)	700			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2105T>C	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.786755	0.70337	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78078	0.4227	N	0.04245	-0.25	0.80722	D	1	B;D;B	0.69078	0.206;0.997;0.321	P;D;P	0.80764	0.543;0.994;0.621	D	0.83890	0.0284	9	0.87932	D	0	.	14.0827	0.64934	0.0:0.0:0.0:1.0	.	702;588;700	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	A	702;700;588;700;588	ENSP00000339824:V702A;ENSP00000414914:V700A;ENSP00000412903:V588A;ENSP00000260795:V700A;ENSP00000231803:V588A	ENSP00000260795:V700A	V	+	2	0	FGFR3	1778139	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.703000	0.84585	1.790000	0.52503	0.459000	0.35465	GTG		0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		50	174	0	0	0	1	0	50	174					C	1808341	T	C	1808341	3	2	79	1	0	0	0	0	1	0	0	0	5892	1696	59	4	2312	4	FGFR3	4	1808341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949	1808341	189345935	5024	15341											
LETM1	3954	broad.mit.edu	37	chr4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctcctgctggatggccGcctcctcctgcagcgtggcc	14	16	0	0	rs139115587	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	474					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657													g|||	2	0.000399361	0.0	0.0	5008	,	,		17780	0.002		0.0	False		,,,				2504	0.0					ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1420-1422)gCg>gTg		leucine zipper-EF-hand containing transmembrane protein 1		G	VAL/ALA	0,4406		0,0,2203	75	70	72		1421	3.9	1	4	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LETM1	NM_012318.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	474/740	1824770	1,13005	2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1824770G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1421C>T	4.37:g.1824770G>A	ENSP00000305653:p.Ala474Val						p.A474V	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		9	1717	-			474					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1421C>T	CCDS3355.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.44	2.237076	0.39498	0.0	1.16E-4	ENSG00000168924	ENST00000302787	.	.	.	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.65498	2.005	0.53688	D	0.999977	D	0.67145	0.996	B	0.43251	0.413	T	0.58092	-0.7697	9	0.37606	T	0.19	-21.2189	13.297	0.60303	0.0:0.0:0.5072:0.4928	.	474	O95202	LETM1_HUMAN	V	474	.	ENSP00000305653:A474V	A	-	2	0	LETM1	1794568	0.283000	0.24277	0.997000	0.53966	0.836000	0.47400	0.929000	0.28844	0.916000	0.36871	0.491000	0.48974	GCG		0.657	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			115	418	0	0	0	1	0	115	418					A	1824770	G	A	1824770	3	1	79	1	0	0	0	0	1	0	0	0	8765	1087	38	1	822	1	LETM1	4	1824770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16429	1824770	189329506	5025	15342											
WHSC1	7468	broad.mit.edu	37	chr4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgagaagagcctcgtaGcttttgaaggagaaggacag	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000382895.3	+	6	1278	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	283	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCTCGTAGCTTTTGAAGG	0.433			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(847-849)Gct>Act		Wolf-Hirschhorn syndrome candidate 1							77	80	79					4																	1918684		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918684G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.847G>A	4.37:g.1918684G>A	ENSP00000372351:p.Ala283Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382895.3_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T	p.A283T			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1054	+		all_epithelial(65;1.34e-05)	283			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.847G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586572	0.28268	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.25	3.39	0.38822	PWWP (3);	0.335476	0.25768	N	0.028439	T	0.39517	0.1081	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.10450	0.005;0.003;0.005;0.004	T	0.17930	-1.0353	10	0.25751	T	0.34	.	3.9283	0.09273	0.0897:0.2814:0.4923:0.1366	.	283;283;283;283	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	283	ENSP00000423972:A283T;ENSP00000421681:A283T;ENSP00000372347:A283T;ENSP00000372348:A283T;ENSP00000399251:A283T;ENSP00000372351:A283T;ENSP00000425761:A283T;ENSP00000422878:A283T;ENSP00000381311:A283T	ENSP00000308780:A283T	A	+	1	0	WHSC1	1888482	0.952000	0.32445	0.996000	0.52242	0.998000	0.95712	1.515000	0.35845	1.445000	0.47624	0.655000	0.94253	GCT		0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		64	229	0	0	0	1	0	64	229					A	1918684	G	A	1918684	3	1	79	1	0	0	0	0	1	0	0	0	17416	971	34	2	857	2	WHSC1	4	1918684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93914	1918684	189235592	5026	15343											
WHSC2	7469	broad.mit.edu	37	chr4	1985098	1985098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcgcgtccactggcccGtggcatagttcatctcaaac	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1985098G>A	ENST00000411638.2	-	11	1550	c.1535C>T	c.(1534-1536)aCg>aTg	p.T512M	NELFA_ENST00000542778.1_Missense_Mutation_p.T377M|NELFA_ENST00000382882.3_Missense_Mutation_p.T523M	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	512					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACTGGCCCGTGGCATAGTT	0.597																																						ENST00000382882.3																			0											c.(1567-1569)aCg>aTg		negative elongation factor complex member A							197	168	178					4																	1985098		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1985098G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1535C>T	4.37:g.1985098G>A	ENSP00000399165:p.Thr512Met					NELFA_ENST00000542778.1_Missense_Mutation_p.T377M|NELFA_ENST00000411638.1_Missense_Mutation_p.T512M	p.T523M	NM_005663.4	NP_005654.3					11	2685	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1568C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.923042	0.92319	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.61627	0.15;0.09;0.2;0.17	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79978	-0.1575	10	0.87932	D	0	-18.9401	18.8462	0.92208	0.0:0.0:1.0:0.0	.	512	Q9H3P2	NELFA_HUMAN	M	523;516;377;512	ENSP00000372335:T523M;ENSP00000387647:T516M;ENSP00000445757:T377M;ENSP00000399165:T512M	ENSP00000372335:T523M	T	-	2	0	WHSC2	1954896	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.741000	0.98843	2.466000	0.83321	0.462000	0.41574	ACG		0.597	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		29	743	0	0	0	1	0	29	743					A	1985098	G	A	1985098	3	1	79	1	0	0	0	0	1	0	0	0	17418	1145	40	1	55	1	WHSC2	4	1985098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66414	1985098	189169178	5027	15344											
WHSC2	7469	broad.mit.edu	37	chr4	1987506	1987506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccccgagccctacctgCgtggacaccaggccggctgc	13	18	0	0	rs151160222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1987506C>T	ENST00000411638.2	-	7	936	c.921G>A	c.(919-921)acG>acA	p.T307T	NELFA_ENST00000542778.1_Silent_p.T172T|NELFA_ENST00000382882.3_Silent_p.T318T|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	307					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCCTACCTGCGTGGACACCA	0.607													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15703	0.0		0.0	False		,,,				2504	0.0					ENST00000382882.3																			0											c.(952-954)acG>acA		negative elongation factor complex member A		A		1,4405		0,1,2202	44	41	42		954	-8.3	0.9	4	dbSNP_134	42	1,8599		0,1,4299	no	coding-synonymous	WHSC2	NM_005663.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		318/540	1987506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7469							g.chr4:1987506C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.921G>A	4.37:g.1987506C>T						NELFA_ENST00000542778.1_Silent_p.T172T|NELFA_ENST00000411638.1_Silent_p.T307T	p.T318T	NM_005663.4	NP_005654.3					7	2071	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.954G>A		.	.	.	.	.	.	.	.	.	.	c	2.770	-0.255841	0.05829	2.27E-4	1.16E-4	ENSG00000185049	ENST00000453740	.	.	.	4.14	-8.28	0.01013	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-15.9098	2.0535	0.03576	0.2093:0.3585:0.1069:0.3253	.	.	.	.	H	208	.	.	R	-	2	0	WHSC2	1957304	0.000000	0.05858	0.860000	0.33809	0.128000	0.20619	-3.944000	0.00329	-1.642000	0.01521	-1.199000	0.01669	CGC		0.607	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		26	146	0	0	0	1	0	26	146					T	1987506	C	T	1987506	2	4	79	1	0	0	0	0	0	0	0	1	17418	755	27	1		1	WHSC2	4	1987506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2408	1987506	189166770	5028	15345											
NAT8L	339983	broad.mit.edu	37	chr4	2062757	2062757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgagccgctcgctgctgCtgacgtgcctggtgccggcc	15	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	ENST00000423729.2	+	2	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	137					metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTCGCTGCTGCTGACGTGCCT	0.746																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(409-411)Ctg>Ttg		N-acetyltransferase 8-like (GCN5-related, putative)							12	16	15					4																	2062757		684	1579	2263	SO:0001819	synonymous_variant	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2062757C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.409C>T	4.37:g.2062757C>T						NAT8L_ENST00000331662.3_5'UTR	p.L137L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		2	409	+			137						Silent	SNP	ENST00000423729.2	37	c.409C>T	CCDS3359.2																																																																																				0.746	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		13	44	0	0	0	1	0	13	44					T	2062757	C	T	2062757	2	4	79	1	0	0	0	0	0	0	0	1	10222	796	28	2		2	NAT8L	4	2062757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75251	2062757	189091519	5029	15346											
NAT8L	339983	broad.mit.edu	37	chr4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggccgtcaaggtggccGcccacaagctctacgagtcg	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000423729.2	+	3	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	255	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(763-765)Gcc>Acc		N-acetyltransferase 8-like (GCN5-related, putative)							40	37	38					4																	2065708		2197	4298	6495	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065708G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.763G>A	4.37:g.2065708G>A	ENSP00000413064:p.Ala255Thr					NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	p.A255T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	763	+			255			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.763G>A	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	36	5.880837	0.97062	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.37235	1.21;1.21	5.31	5.31	0.75309	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.68796	0.3040	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76323	-0.3001	10	0.87932	D	0	-0.0397	18.5588	0.91093	0.0:0.0:1.0:0.0	.	255	Q8N9F0	NAT8L_HUMAN	T	255;87	ENSP00000413064:A255T;ENSP00000328464:A87T	ENSP00000328464:A87T	A	+	1	0	NAT8L	2035506	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.634000	0.98435	2.484000	0.83849	0.457000	0.33378	GCC		0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		29	139	0	0	0	1	0	29	139					A	2065708	G	A	2065708	3	1	79	1	0	0	0	0	1	0	0	0	10222	1087	38	1	773	1	NAT8L	4	2065708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2951	2065708	189088568	5030	15347											
POLN	353497	broad.mit.edu	37	chr4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccctcggggagatcgtgaGaatcttgtcttctttacctg	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	603					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1807-1809)Ctc>Ttc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							141	127	132					4																	2130966		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130966G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1807C>T	4.37:g.2130966G>A	ENSP00000435506:p.Leu603Phe					POLN_ENST00000382865.1_Missense_Mutation_p.L603F	p.L603F			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		18	2160	-			603					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1807C>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475118	0.26511	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96885	-4.16;-4.16	4.54	-0.924	0.10462	DNA-directed DNA polymerase, family A, palm domain (1);	1.011150	0.07936	N	0.978426	D	0.95446	0.8521	L	0.42686	1.345	0.09310	N	1	D;D;D	0.64830	0.975;0.973;0.994	P;P;D	0.63703	0.702;0.789;0.917	D	0.87240	0.2266	10	0.87932	D	0	-0.0173	1.3165	0.02108	0.2091:0.3282:0.3064:0.1563	.	134;294;603	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	F	603;603;294;134	ENSP00000435506:L603F;ENSP00000372316:L603F	ENSP00000253313:L294F	L	-	1	0	POLN	2100764	0.023000	0.18921	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	0.098000	0.17522	0.555000	0.69702	CTC		0.388	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		38	210	0	0	0	1	0	38	210					A	2130966	G	A	2130966	3	1	79	1	0	0	0	0	1	0	0	0	12249	942	33	2	931	2	POLN	4	2130966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65258	2130966	189023310	5031	15348											
HAUS3	79441	broad.mit.edu	37	chr4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatcattgcatttagaattCcttgactctgcttcagcttt	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	153					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(457-459)gGa>gAa		HAUS augmin-like complex, subunit 3							127	124	125					4																	2242216		2203	4300	6503	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242216C>T	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.458G>A	4.37:g.2242216C>T	ENSP00000243706:p.Gly153Glu					POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E	p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	687	-			153					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.458G>A	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020179	0.19433	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.29	2.27	0.28462	.	0.300119	0.28683	U	0.014487	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19946	0.027;0.01	T	0.29088	-1.0023	10	0.02654	T	1	-47.7984	6.0954	0.20017	0.0:0.5297:0.29:0.1803	.	153;153	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	153	ENSP00000243706:G153E;ENSP00000392903:G153E	ENSP00000243706:G153E	G	-	2	0	HAUS3	2212014	0.000000	0.05858	0.528000	0.27938	0.982000	0.71751	0.596000	0.24044	0.640000	0.30582	0.655000	0.94253	GGA		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		43	283	0	0	0	1	0	43	283					T	2242216	C	T	2242216	3	4	79	1	0	0	0	0	1	0	0	0	6997	855	30	2	1369	2	HAUS3	4	2242216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111250	2242216	188912060	5032	15349											
MXD4	10608	broad.mit.edu	37	chr4	2252274	2252274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagggcacgggcctaCgagagggcggggcggcccag	21	11	0	2	rs374721019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2252274C>T	ENST00000337190.2	-	6	940	c.627G>A	c.(625-627)tcG>tcA	p.S209S	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	209					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACGGGCCTACGAGAGGGCGG	0.716																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(625-627)tcG>tcA		MAX dimerization protein 4		C		0,4292		0,0,2146	8	9	9		627	3.1	1	4		9	2,8298		0,2,4148	no	coding-synonymous	MXD4	NM_006454.2		0,2,6294	TT,TC,CC		0.0241,0.0,0.0159		209/210	2252274	2,12590	2146	4150	6296	SO:0001819	synonymous_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252274C>T		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.627G>A	4.37:g.2252274C>T							p.S209S	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			6	940	-			209					A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	c.627G>A	CCDS3361.1																																																																																				0.716	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		8	63	0	0	0	1	0	8	63					T	2252274	C	T	2252274	2	4	79	1	0	0	0	0	0	0	0	1	10042	523	19	1		1	MXD4	4	2252274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10058	2252274	188902002	5033	15350											
MXD4	10608	broad.mit.edu	37	chr4	2263663	2263663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgatccctgcgctccagGtactcggccgcctccagcag	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	15	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(43-45)taC>taT		MAX dimerization protein 4							5	6	6					4																	2263663		1657	3206	4863	SO:0001819	synonymous_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2263663G>A		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.45C>T	4.37:g.2263663G>A						MXD4_ENST00000515378.1_5'UTR	p.Y15Y	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			1	358	-			15			Interaction with SIN3A and SIN3B (By similarity).		A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	c.45C>T	CCDS3361.1																																																																																				0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		11	42	0	0	0	1	0	11	42					A	2263663	G	A	2263663	2	1	79	1	0	0	0	0	0	0	0	1	10042	1256	44	2		2	MXD4	4	2263663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11389	2263663	188890613	5034	15351											
RNF4	6047	broad.mit.edu	37	chr4	2502385	2502385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaatactttcttttgaaGctggagatgaaattgtggac	10	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511600.1	+	4	1639		c.e4-1		RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTCTTTTGAAGCTGGAGATGA	0.398																																						ENST00000511600.1																			0				endometrium(2)|kidney(2)|lung(1)	5						c.e4-1		ring finger protein 4							186	164	171					4																	2502385		1886	4135	6021	SO:0001630	splice_region_variant	6047				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:2502385G>A	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"RING-type (C3HC4) zinc fingers"	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.125-1G>A	4.37:g.2502385G>A						RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000509258.1_Splice_Site				P78317	RNF4_HUMAN			4	1639	+		all_epithelial(65;0.241)						B2R6D6|D6RF58|Q49AR8	Splice_Site	SNP	ENST00000511600.1	37		CCDS47001.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855263	0.71719	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF4	2472183	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.512000	0.67030	2.676000	0.91093	0.655000	0.94253	.		0.398	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938	Intron	10	161	0	0	0	1	0	10	161					A	2502385	G	A	2502385	5	1	79	1	0	0	0	0	0	0	1	0	13542	985	34	2	134	2	RNF4	4	2502385	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238722	2502385	188651891	5035	15352											
TNIP2	79155	broad.mit.edu	37	chr4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaacagtcgattttcttcCtgcaacttctcaataacact	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000315423.7	-	3	707	c.621G>T	c.(619-621)caG>caT	p.Q207H	TNIP2_ENST00000510267.1_Missense_Mutation_p.Q100H|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(298-300)caG>caT		TNFAIP3 interacting protein 2							143	123	129					4																	2747209		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2747209C>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.621G>T	4.37:g.2747209C>A	ENSP00000321203:p.Gln207His					TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.Q207H|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	p.Q100H	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	727	-			207						Missense_Mutation	SNP	ENST00000315423.7	37	c.300G>T	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927050	0.34002	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.57752	0.4;0.38;0.93	5.07	3.3	0.37823	.	0.519194	0.20701	N	0.087269	T	0.64627	0.2615	M	0.68593	2.085	0.31082	N	0.7118	D;P	0.76494	0.999;0.8	D;B	0.69654	0.965;0.259	T	0.65697	-0.6105	10	0.72032	D	0.01	-11.7897	6.4389	0.21839	0.0:0.6687:0.1531:0.1782	.	207;207	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	H	100;207;207	ENSP00000427613:Q100H;ENSP00000321203:Q207H;ENSP00000426314:Q207H	ENSP00000321203:Q207H	Q	-	3	2	TNIP2	2717007	1.000000	0.71417	0.176000	0.23000	0.011000	0.07611	3.557000	0.53741	0.511000	0.28236	0.650000	0.86243	CAG		0.448	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		25	131	1	0	9.39395e-14	1	1.01619e-13	25	131					A	2747209	C	A	2747209	3	1	79	1	0	0	0	0	1	0	0	0	16367	680	24	3	684	3	TNIP2	4	2747209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244824	2747209	188407067	5036	15353											
NOP14	8602	broad.mit.edu	37	chr4	2964855	2964855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcgccccccgcttaccttCctgagggcccgtgcgcgaga	13	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000314262.6	-	1	240	c.192G>A	c.(190-192)agG>agA	p.R64R	GRK4_ENST00000398052.4_5'Flank|GRK4_ENST00000504933.1_5'Flank|NOP14_ENST00000502735.1_Silent_p.R64R|NOP14-AS1_ENST00000503709.1_RNA|GRK4_ENST00000442472.2_5'Flank|NOP14_ENST00000398071.4_Silent_p.R64R|NOP14_ENST00000416614.2_Silent_p.R64R|GRK4_ENST00000398051.4_5'Flank|GRK4_ENST00000503518.2_5'Flank|GRK4_ENST00000345167.6_5'Flank	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	64					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(190-192)agG>agA		NOP14 nucleolar protein							42	48	46					4																	2964855		2202	4299	6501	SO:0001819	synonymous_variant	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2964855C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.192G>A	4.37:g.2964855C>T						NOP14_ENST00000314262.6_Silent_p.R64R|NOP14_ENST00000502735.1_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R	p.R64R			P78316	NOP14_HUMAN			1	257	-			64					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	c.192G>A	CCDS33945.1																																																																																				0.672	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		75	287	0	0	0	1	0	75	287					T	2964855	C	T	2964855	2	4	79	1	0	0	0	0	0	0	0	1	10578	854	30	2		2	NOP14	4	2964855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217646	2964855	188189421	5037	15354											
HTT	3064	broad.mit.edu	37	chr4	3133503	3133503	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccacggaataccctgGtatgttaaaagttcacatct	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATACCCTGGTATGTTAAAA	0.403																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e16+1		huntingtin							75	72	73					4																	3133503		1851	4099	5950	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3133503G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2236+1G>A	4.37:g.3133503G>A								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	16	2381	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734557	0.30774	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.98	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2134	0.59839	0.0767:0.0:0.9233:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3103301	1.000000	0.71417	0.841000	0.33234	0.231000	0.25187	7.012000	0.76366	1.331000	0.45412	0.591000	0.81541	.		0.403	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	87	379	0	0	0	1	0	87	379					A	3133503	G	A	3133503	5	1	79	1	0	0	0	0	0	0	1	0	7487	1275	44	2	2299	2	HTT	4	3133503	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168648	3133503	188020773	5038	15355											
HTT	3064	broad.mit.edu	37	chr4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttctccgtcagcacaAtaaccaggtatgctgaccca	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	980					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCAGCACAATAACCAGGTA	0.443																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2938-2940)Ata>Cta		huntingtin							89	89	89					4																	3142376		2108	4240	6348	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3142376A>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2938A>C	4.37:g.3142376A>C	ENSP00000347184:p.Ile980Leu						p.I980L	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	22	3083	+		all_epithelial(65;0.18)	980					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2938A>C	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612991	0.28712	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.97	1.25	0.21368	Armadillo-type fold (1);	0.047013	0.85682	D	0.000000	T	0.47728	0.1461	L	0.38175	1.15	0.46078	D	0.998853	B	0.21225	0.053	B	0.20184	0.028	T	0.35500	-0.9786	10	0.42905	T	0.14	.	9.0413	0.36319	0.8028:0.0:0.1972:0.0	.	980	P42858	HD_HUMAN	L	980	ENSP00000347184:I980L	ENSP00000347184:I980L	I	+	1	0	HTT	3112174	0.985000	0.35326	0.569000	0.28460	0.964000	0.63967	2.603000	0.46266	0.337000	0.23665	0.533000	0.62120	ATA		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		44	202	0	0	0	1	0	44	202					C	3142376	A	C	3142376	3	2	79	1	0	0	0	0	1	0	0	0	7487	101	4	4	3024	4	HTT	4	3142376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8873	3142376	188011900	5039	15356											
HTT	3064	broad.mit.edu	37	chr4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgaactaatcacatcaAccaccagagcactcacagta	4	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1017					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCACATCAACCACCAGAGC	0.383																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3049-3051)Acc>Gcc		huntingtin							174	163	166					4																	3144596		1930	4140	6070	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3144596A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3049A>G	4.37:g.3144596A>G	ENSP00000347184:p.Thr1017Ala						p.T1017A	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	23	3194	+		all_epithelial(65;0.18)	1017					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.3049A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042956	0.55003	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	5.24	5.24	0.73138	Armadillo-type fold (1);	0.051878	0.85682	D	0.000000	T	0.09158	0.0226	M	0.62723	1.935	0.50813	D	0.999893	P	0.39940	0.696	B	0.37601	0.254	T	0.02581	-1.1138	10	0.72032	D	0.01	.	10.9659	0.47412	0.8601:0.0:0.0:0.1399	.	1017	P42858	HD_HUMAN	A	1017	ENSP00000347184:T1017A	ENSP00000347184:T1017A	T	+	1	0	HTT	3114394	1.000000	0.71417	0.829000	0.32907	0.989000	0.77384	5.669000	0.68081	1.977000	0.57605	0.528000	0.53228	ACC		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		100	489	0	0	0	1	0	100	489					G	3144596	A	G	3144596	3	3	79	1	0	0	0	0	1	0	0	0	7487	43	2	4	3139	4	HTT	4	3144596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2220	3144596	188009680	5040	15357											
HTT	3064	broad.mit.edu	37	chr4	3146887	3146887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttctcagtttggatgCtgtgaagctttgtgtcttct	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1025					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTTTGGATGCTGTGAAGCTT	0.353																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3073-3075)tgC>tgT		huntingtin							337	307	316					4																	3146887		1897	4118	6015	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3146887C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3075C>T	4.37:g.3146887C>T							p.C1025C	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	24	3220	+		all_epithelial(65;0.18)	1025					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.3075C>T	CCDS43206.1																																																																																				0.353	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		53	546	0	0	0	1	0	53	546					T	3146887	C	T	3146887	2	4	79	1	0	0	0	0	0	0	0	1	7487	805	28	2		2	HTT	4	3146887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	3146887	188007389	5041	15358											
HTT	3064	broad.mit.edu	37	chr4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacttcacgcagagggCcccggtcgccatggccacgt	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3047					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGCAGAGGGCCCCGGTCGCC	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(9139-9141)gCc>gTc		huntingtin							27	31	29					4																	3240630		2122	4213	6335	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3240630C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9140C>T	4.37:g.3240630C>T	ENSP00000347184:p.Ala3047Val						p.A3047V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	66	9285	+		all_epithelial(65;0.18)	3047					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.9140C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340021	0.60963	.	.	ENSG00000197386	ENST00000355072	T	0.68025	-0.3	5.13	2.22	0.28083	.	0.286284	0.38548	N	0.001646	T	0.46639	0.1403	N	0.08118	0	0.19575	N	0.999967	B	0.18013	0.025	B	0.21151	0.033	T	0.38714	-0.9648	10	0.40728	T	0.16	.	15.0088	0.71533	0.0:0.594:0.406:0.0	.	3047	P42858	HD_HUMAN	V	3047	ENSP00000347184:A3047V	ENSP00000347184:A3047V	A	+	2	0	HTT	3210428	0.999000	0.42202	0.018000	0.16275	0.696000	0.40369	4.057000	0.57455	0.523000	0.28482	0.557000	0.71058	GCC		0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		31	95	0	0	0	1	0	31	95					T	3240630	C	T	3240630	3	4	79	1	0	0	0	0	1	0	0	0	7487	739	26	2	9402	2	HTT	4	3240630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93743	3240630	187913646	5042	15359											
RGS12	6002	broad.mit.edu	37	chr4	3317942	3317942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcccattgcctgggccGtcgcccccaagggtgcggag	14	15	0	0	rs377043527		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000344733.5	+	2	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	15					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(43-45)ccG>ccA		regulator of G-protein signaling 12		G	,	0,4404		0,0,2202	67	81	76		45,45	-2.5	0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198229.2	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	15/1377,15/1448	3317942	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3317942G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.45G>A	4.37:g.3317942G>A						RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000344733.5_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P	p.P15P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	949	+			15					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.45G>A	CCDS3366.1																																																																																				0.602	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		148	634	0	0	0	1	0	148	634					A	3317942	G	A	3317942	2	1	79	1	0	0	0	0	0	0	0	1	13345	1132	40	1		1	RGS12	4	3317942	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77312	3317942	187836334	5043	15360											
RGS12	6002	broad.mit.edu	37	chr4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccacgagctccaacctgGagtccgacagcttgcaagcc	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000344733.5	+	2	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K|RGS12_ENST00000336727.3_Missense_Mutation_p.E248K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	248	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(742-744)Gag>Aag		regulator of G-protein signaling 12							48	47	47					4																	3318639		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318639G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.742G>A	4.37:g.3318639G>A	ENSP00000339381:p.Glu248Lys					RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000344733.5_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K	p.E248K	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1646	+			248			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.742G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058037	0.76074	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.19394	2.15;2.55;2.55;2.55	4.54	3.69	0.42338	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.941;0.997;0.999	T	0.41805	-0.9488	10	0.39692	T	0.17	-39.8041	13.7741	0.63044	0.0:0.1547:0.8453:0.0	.	248;248;248	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	K	248	ENSP00000440566:E248K;ENSP00000339381:E248K;ENSP00000338509:E248K;ENSP00000372238:E248K	ENSP00000338509:E248K	E	+	1	0	RGS12	3288437	1.000000	0.71417	0.789000	0.31954	0.607000	0.37147	9.493000	0.97960	0.889000	0.36185	0.491000	0.48974	GAG		0.537	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		19	381	0	0	0	1	0	19	381					A	3318639	G	A	3318639	3	1	79	1	0	0	0	0	1	0	0	0	13345	1175	41	2	744	2	RGS12	4	3318639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	3318639	187835637	5044	15361											
RGS12	6002	broad.mit.edu	37	chr4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcggctgcatgcggcGcctgcgggcagagcagaaaa	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000344733.5	+	2	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H|RGS12_ENST00000336727.3_Missense_Mutation_p.R261H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	261	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(781-783)cGc>cAc		regulator of G-protein signaling 12							36	37	37					4																	3318679		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318679G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.782G>A	4.37:g.3318679G>A	ENSP00000339381:p.Arg261His					RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000344733.5_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H	p.R261H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1686	+			261			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.782G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244640	0.79912	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.23552	1.9;2.51;2.51;2.51	4.39	4.39	0.52855	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.97;0.988	T	0.62158	-0.6913	10	0.87932	D	0	-30.3977	15.9516	0.79843	0.0:0.0:1.0:0.0	.	261;261;261	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	H	261	ENSP00000440566:R261H;ENSP00000339381:R261H;ENSP00000338509:R261H;ENSP00000372238:R261H	ENSP00000338509:R261H	R	+	2	0	RGS12	3288477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.417000	0.73337	1.989000	0.58080	0.491000	0.48974	CGC		0.597	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		66	265	0	0	0	1	0	66	265					A	3318679	G	A	3318679	3	1	79	1	0	0	0	0	1	0	0	0	13345	1087	38	1	784	1	RGS12	4	3318679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	3318679	187835597	5045	15362											
RGS12	6002	broad.mit.edu	37	chr4	3432402	3432402	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagcccgggctcagcCtccagcccccctggacctcc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000344733.5	+	17	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1278					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3832-3834)gcC>gcA		regulator of G-protein signaling 12							10	12	11					4																	3432402		2181	4260	6441	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432402C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3834C>A	4.37:g.3432402C>A						RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000344733.5_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR	p.A1278A	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4738	+			1278					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3834C>A	CCDS3366.1																																																																																				0.741	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	78	1	0	6.94344e-10	1	7.33246e-10	18	78					A	3432402	C	A	3432402	2	1	79	1	0	0	0	0	0	0	0	1	13345	668	24	3		3	RGS12	4	3432402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113723	3432402	187721874	5046	15363											
RGS12	6002	broad.mit.edu	37	chr4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagcgggggcacaggCtggccctgggaggtcgcagg	20	10	0	0	rs375231980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_ENST00000338806.4_Missense_Mutation_p.A760D|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4222-4224)gCt>gAt		regulator of G-protein signaling 12							35	34	35					4																	3441290		2201	4295	6496	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441290C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4223C>A	4.37:g.3441290C>A	ENSP00000339381:p.Ala1408Asp					RGS12_ENST00000338806.4_Missense_Mutation_p.A760D	p.A1408D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5127	+			1408					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4223C>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453747	0.26161	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34859	1.64;1.34	2.59	1.24	0.21308	.	2.890200	0.02424	U	0.082860	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27700	0.16;0.186;0.18	B;B;B	0.32533	0.06;0.147;0.07	T	0.26467	-1.0102	10	0.49607	T	0.09	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	D	1408;760	ENSP00000339381:A1408D;ENSP00000342133:A760D	ENSP00000342133:A760D	A	+	2	0	RGS12	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT		0.662	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		44	224	1	0	2.95478e-19	1	3.29235e-19	44	224					A	3441290	C	A	3441290	3	1	79	1	0	0	0	0	1	0	0	0	13345	797	28	3	4364	3	RGS12	4	3441290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8888	3441290	187712986	5047	15364											
HGFAC	3083	broad.mit.edu	37	chr4	3446679	3446679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtggactccgtgggCgccgcggccctgctgggcct	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	325	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(973-975)ggC>ggT		HGF activator							15	17	16					4																	3446679		2190	4289	6479	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446679C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.975C>T	4.37:g.3446679C>T						HGFAC_ENST00000511533.1_Silent_p.G325G	p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	8	1090	+			325			Kringle.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.975C>T	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			27	96	0	0	0	1	0	27	96					T	3446679	C	T	3446679	2	4	79	1	0	0	0	0	0	0	0	1	7116	755	27	1		1	HGFAC	4	3446679	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5389	3446679	187707597	5048	15365											
DOK7	285489	broad.mit.edu	37	chr4	3495172	3495172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacgcggggccacccccgGctttcttttcggcatgtcca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	ENST00000340083.5	+	7	1524	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	487					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCACCCCCGGCTTTCTTTTC	0.692																																						ENST00000340083.5																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1459-1461)Gct>Tct		docking protein 7							8	9	9					4																	3495172		2065	4013	6078	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3495172G>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1459G>T	4.37:g.3495172G>T	ENSP00000344432:p.Ala487Ser					DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	p.A487S	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	1524	+			487					A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.1459G>T	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839279	0.32513	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.68903	-0.36;-0.27	3.77	2.92	0.33932	.	0.149388	0.44688	D	0.000440	T	0.78489	0.4291	M	0.73598	2.24	0.09310	N	0.999996	P;D;B	0.71674	0.713;0.998;0.147	B;D;B	0.80764	0.424;0.994;0.035	T	0.68477	-0.5398	10	0.56958	D	0.05	-9.6516	10.5116	0.44866	0.0958:0.0:0.9042:0.0	.	487;349;487	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	S	487	ENSP00000374304:A487S;ENSP00000344432:A487S	ENSP00000344432:A487S	A	+	1	0	DOK7	3464970	0.998000	0.40836	0.043000	0.18650	0.147000	0.21601	2.799000	0.47892	0.812000	0.34326	0.555000	0.69702	GCT		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		17	66	1	0	1.56452e-12	1	1.68123e-12	17	66					T	3495172	G	T	3495172	3	4	79	1	0	0	0	0	1	0	0	0	4718	1203	42	3	1485	3	DOK7	4	3495172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48493	3495172	187659104	5049	15366											
ADRA2C	152	broad.mit.edu	37	chr4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgtggctcatctcgGccgtcatctccttcccgccg	11	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	180					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)			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)	GCTCATCTCGGCCGTCATCTC	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(538-540)Gcc>Acc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						27	28	27					4																	3768871		2199	4296	6495	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.chr4:3768871G>A	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.538G>A	4.37:g.3768871G>A	ENSP00000386069:p.Ala180Thr					ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	747	+			180					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.538G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444253	0.83993	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61489	0.2351	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.69771	-0.5055	9	0.87932	D	0	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	180;180	D6RGL0;P18825	.;ADA2C_HUMAN	T	180	ENSP00000426268:A180T;ENSP00000386069:A180T	ENSP00000386069:A180T	A	+	1	0	ADRA2C	3738669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.710000	0.74670	1.706000	0.51276	0.561000	0.74099	GCC		0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		30	121	0	0	0	1	0	30	121					A	3768871	G	A	3768871	3	1	79	1	0	0	0	0	1	0	0	0	339	1203	42	2	540	2	ADRA2C	4	3768871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273699	3768871	187385405	5050	15367											
ADRA2C	152	broad.mit.edu	37	chr4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctggtctcgctctaccGccagcccgacggcgccgcct	12	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	192					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)			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)	TCGCTCTACCGCCAGCCCGAC	0.667																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(574-576)cGc>cAc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17	19	18					4																	3768908		2187	4292	6479	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.chr4:3768908G>A	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.575G>A	4.37:g.3768908G>A	ENSP00000386069:p.Arg192His					ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	784	+			192					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.575G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722940	0.48728	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37915	1.17;1.17	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31071	0.0785	L	0.53617	1.68	0.50171	D	0.999851	P;B	0.42584	0.784;0.344	B;B	0.34452	0.183;0.07	T	0.30592	-0.9973	9	0.45353	T	0.12	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	192;192	D6RGL0;P18825	.;ADA2C_HUMAN	H	192	ENSP00000426268:R192H;ENSP00000386069:R192H	ENSP00000386069:R192H	R	+	2	0	ADRA2C	3738706	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.140000	0.58031	1.706000	0.51276	0.561000	0.74099	CGC		0.667	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		28	105	0	0	0	1	0	28	105					A	3768908	G	A	3768908	3	1	79	1	0	0	0	0	1	0	0	0	339	1087	38	1	577	1	ADRA2C	4	3768908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	3768908	187385368	5051	15368											
OTOP1	133060	broad.mit.edu	37	chr4	4228393	4228393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccacgaacacgatcaGcccatactggctgctcagca	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4228393G>A	ENST00000296358.4	-	1	223	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	67					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)				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)		AACACGATCAGCCCATACTGG	0.716																																						ENST00000296358.4																			0				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						c.(199-201)Ctg>Ttg		otopetrin 1							9	10	9					4																	4228393		2065	4067	6132	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228393G>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.199C>T	4.37:g.4228393G>A							p.L67L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	223	-			67					A1L476	Silent	SNP	ENST00000296358.4	37	c.199C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		4	57	0	0	0	1	0	4	57					A	4228393	G	A	4228393	2	1	79	1	0	0	0	0	0	0	0	1	11347	962	34	2		2	OTOP1	4	4228393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459485	4228393	186925883	5052	15369											
TMEM128	85013	broad.mit.edu	37	chr4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtaatgggtatcaaggCtggatacttgacatcatatt	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000382753.4	-	3	361	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000254742.2_Missense_Mutation_p.A94T			Q5BJH2	TM128_HUMAN	transmembrane protein 128	118						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.(280-282)Gcc>Acc		transmembrane protein 128							134	108	117					4																	4242094		2203	4300	6503	SO:0001583	missense	85013					integral to membrane		g.chr4:4242094C>T	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.352G>A	4.37:g.4242094C>T	ENSP00000372201:p.Ala118Thr					TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000382753.4_Missense_Mutation_p.A118T	p.A94T	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	3	866	-			118					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Missense_Mutation	SNP	ENST00000382753.4	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	C	7.626	0.677821	0.14841	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	-10.3	0.00346	.	0.847211	0.10602	N	0.655600	T	0.55816	0.1944	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.004	T	0.45234	-0.9275	10	0.22706	T	0.39	-0.0782	13.3231	0.60444	0.1752:0.7316:0.0:0.0933	.	118;118;118;94	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	T	94;118;118;118	ENSP00000254742:A94T;ENSP00000372201:A118T;ENSP00000442300:A118T;ENSP00000439174:A118T	ENSP00000254742:A94T	A	-	1	0	TMEM128	4292995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.607000	0.05648	-2.754000	0.00373	-0.156000	0.13503	GCC		0.368	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927		27	142	0	0	0	1	0	27	142					T	4242094	C	T	4242094	3	4	79	1	0	0	0	0	1	0	0	0	16093	797	28	2	153	2	TMEM128	4	4242094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13701	4242094	186912182	5053	15370											
D4S234E	27065	broad.mit.edu	37	chr4	4419023	4419023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagactccagtgcccGggagaaattttacacagtca	11	10	1	2	rs139279868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4419023G>A	ENST00000421177.2	+	9	2410	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	NSG1_ENST00000505246.1_Missense_Mutation_p.R140Q|STX18_ENST00000505286.1_Intron|NSG1_ENST00000397958.1_Missense_Mutation_p.R140Q|NSG1_ENST00000513555.1_Missense_Mutation_p.R140Q|NSG1_ENST00000433139.2_Missense_Mutation_p.R140Q|NSG1_ENST00000504171.1_Missense_Mutation_p.R101Q|NSG1_ENST00000506380.1_Missense_Mutation_p.R140Q			P42857	NSG1_HUMAN		140					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCAGTGCCCGGGAGAAATTT	0.547																																						ENST00000421177.2																			0											c.(418-420)cGg>cAg				G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84	89	87		419,419	2.6	1	4	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	D4S234E	NM_001040101.1,NM_014392.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	140/186,140/186	4419023	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr4:4419023G>A																												ENST00000421177.2:c.419G>A	4.37:g.4419023G>A	ENSP00000388823:p.Arg140Gln					STX18_ENST00000505286.1_Intron|NSG1_ENST00000505246.1_Missense_Mutation_p.R140Q|NSG1_ENST00000504171.1_Missense_Mutation_p.R101Q|NSG1_ENST00000433139.2_Missense_Mutation_p.R140Q|NSG1_ENST00000513555.1_Missense_Mutation_p.R140Q|NSG1_ENST00000397958.1_Missense_Mutation_p.R140Q|NSG1_ENST00000506380.1_Missense_Mutation_p.R140Q	p.R140Q							9	2410	+								B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.419G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568709	0.28003	0.0	1.16E-4	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.4	2.61	0.31194	.	0.248124	0.34314	N	0.004078	T	0.37376	0.1001	L	0.39147	1.195	0.80722	D	1	B;P	0.39862	0.035;0.692	B;B	0.33295	0.014;0.161	T	0.14504	-1.0470	9	0.62326	D	0.03	-3.1935	8.0789	0.30733	0.0819:0.3077:0.6104:0.0	.	101;140	B4DXC5;P42857	.;NSG1_HUMAN	Q	140;140;140;140;140;140;101	.	ENSP00000381049:R140Q	R	+	2	0	AC110814.1	4469924	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	6.072000	0.71238	0.283000	0.22279	-0.305000	0.09177	CGG		0.547	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			99	458	0	0	0	1	0	99	458					A	4419023	G	A	4419023	3	1	79	1	0	0	0	0	1	0	0	0	4225	1116	39	1	433	1	D4S234E	4	4419023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176929	4419023	186735253	5054	15371											
STX18	53407	broad.mit.edu	37	chr4	4421790	4421790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagtcgaggaagagcaAggagaaggagcacatcacga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000306200.2	-	11	1042	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	327					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567																																						ENST00000306200.2																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(979-981)Ttg>Ctg		syntaxin 18							74	62	66					4																	4421790		2203	4300	6503	SO:0001819	synonymous_variant	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4421790A>G	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.979T>C	4.37:g.4421790A>G						STX18_ENST00000505286.1_Intron	p.L327L	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	11	1042	-			327					Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	37	c.979T>C	CCDS3377.1																																																																																				0.567	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			12	100	0	0	0	1	0	12	100					G	4421790	A	G	4421790	2	3	79	1	0	0	0	0	0	0	0	1	15393	69	3	4		4	STX18	4	4421790	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2767	4421790	186732486	5055	15372											
MSX1	4487	broad.mit.edu	37	chr4	4864471	4864471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctccgcaaacacaagacGaaccgtaagccgcggacgcc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	171					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(511-513)acG>acA		msh homeobox 1							61	77	72					4																	4864471		2198	4296	6494	SO:0001819	synonymous_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864471G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.513G>A	4.37:g.4864471G>A						MSX1_ENST00000468421.1_3'UTR	p.T171T	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	747	+			165					A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	c.513G>A	CCDS3378.2																																																																																				0.617	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			198	927	0	0	0	1	0	198	927					A	4864471	G	A	4864471	2	1	79	1	0	0	0	0	0	0	0	1	9936	1045	37	1		1	MSX1	4	4864471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442681	4864471	186289805	5056	15373											
CYTL1	54360	broad.mit.edu	37	chr4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtcactgggattgggtattCcaaggcattgcagtcatcca	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	122					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(364-366)Gaa>Taa		cytokine-like 1							130	111	117					4																	5016925		2203	4300	6503	SO:0001587	stop_gained	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016925C>A	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.364G>T	4.37:g.5016925C>A	ENSP00000303550:p.Glu122*						p.E122*	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	390	-			122						Nonsense_Mutation	SNP	ENST00000307746.4	37	c.364G>T	CCDS3379.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.80|11.80|11.80	1.747105|1.747105|1.747105	0.30955|0.30955|0.30955	.|.|.	.|.|.	ENSG00000170891|ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508|ENST00000509419	.|.|.	.|.|.	.|.|.	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	.|.|.	0.142736|.|.	0.45361|.|.	D|.|.	0.000361|.|.	.|T|T	.|0.64046|0.64046	.|0.2563|0.2563	.|.|.	.|.|.	.|.|.	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63175|0.63175	.|-0.6696|-0.6696	.|4|4	0.72032|.|.	D|.|.	0.01|.|.	-20.4236|-20.4236|-20.4236	12.6303|12.6303|12.6303	0.56653|0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	122|61|77	.|.|.	ENSP00000303550:E122X|.|.	E|G|W	-|-|-	1|2|3	0|0|0	CYTL1|CYTL1|CYTL1	5067826|5067826|5067826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.809000|0.809000|0.809000	0.32408|0.32408|0.32408	0.101000|0.101000|0.101000	0.19017|0.19017|0.19017	3.648000|3.648000|3.648000	0.54410|0.54410|0.54410	2.022000|2.022000|2.022000	0.59522|0.59522|0.59522	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|TGG		0.478	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		25	108	1	0	4.22769e-11	1	4.50498e-11	25	108					A	5016925	C	A	5016925	4	1	79	1	0	0	0	0	0	1	0	0	4219	864	30	3	50	3	CYTL1	4	5016925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152454	5016925	186137351	5057	15374											
EVC2	132884	broad.mit.edu	37	chr4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgagagggagacatgTcttctttaatatgctaaaga	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000344408.5	-	22	3726	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.T1145A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1225					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3433-3435)Aca>Gca		Ellis van Creveld syndrome 2							99	104	102					4																	5564829		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564829T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3673A>G	4.37:g.5564829T>C	ENSP00000342144:p.Thr1225Ala					EVC2_ENST00000344408.5_Missense_Mutation_p.T1225A|EVC2_ENST00000344938.1_Intron	p.T1145A	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4164	-			1225					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3433A>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.328128	0.01309	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74106	-0.81;-0.81	5.32	-4.61	0.03380	.	0.635267	0.15377	N	0.265509	T	0.48150	0.1484	L	0.27053	0.805	0.24101	N	0.995872	B	0.15473	0.013	B	0.10450	0.005	T	0.36529	-0.9744	10	0.14252	T	0.57	-1.3604	2.4096	0.04421	0.1119:0.1471:0.3375:0.4035	.	1225	Q86UK5	LBN_HUMAN	A	1145;1225	ENSP00000311683:T1145A;ENSP00000342144:T1225A	ENSP00000311683:T1145A	T	-	1	0	EVC2	5615730	0.005000	0.15991	0.008000	0.14137	0.272000	0.26649	-0.562000	0.05950	-1.038000	0.03279	-1.966000	0.00469	ACA		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		153	526	0	0	0	1	0	153	526					C	5564829	T	C	5564829	3	2	79	1	0	0	0	0	1	0	0	0	5304	1667	58	4	257	4	EVC2	4	5564829	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	547904	5564829	185589447	5058	15375											
EVC2	132884	broad.mit.edu	37	chr4	5620298	5620298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcagaactcgggcccgGatcttggggagggccaagct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000344408.5	-	15	2666	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	EVC2_ENST00000344938.1_Silent_p.I871I|EVC2_ENST00000310917.2_Silent_p.I791I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	871					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(2371-2373)atC>atT		Ellis van Creveld syndrome 2							42	41	41					4																	5620298		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5620298G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2613C>T	4.37:g.5620298G>A						EVC2_ENST00000344408.5_Silent_p.I871I|EVC2_ENST00000344938.1_Silent_p.I871I	p.I791I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			15	3104	-			871					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.2373C>T	CCDS3382.2																																																																																				0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		34	147	0	0	0	1	0	34	147					A	5620298	G	A	5620298	2	1	79	1	0	0	0	0	0	0	0	1	5304	1164	41	2		2	EVC2	4	5620298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55469	5620298	185533978	5059	15376											
EVC2	132884	broad.mit.edu	37	chr4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggccatggagggtccGcagaaggttgctgcactcta	13	11	1	1	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000344408.5	-	11	1551	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	EVC2_ENST00000344938.1_Missense_Mutation_p.R500W|EVC2_ENST00000310917.2_Missense_Mutation_p.R420W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	500					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22241	0.0		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1258-1260)Cgg>Tgg		Ellis van Creveld syndrome 2							68	66	67					4																	5633732		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5633732G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1498C>T	4.37:g.5633732G>A	ENSP00000342144:p.Arg500Trp					EVC2_ENST00000344408.5_Missense_Mutation_p.R500W|EVC2_ENST00000344938.1_Missense_Mutation_p.R500W	p.R420W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			11	1989	-			500					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1258C>T	CCDS3382.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.34	2.207709	0.39003	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78481	-1.18;-1.18;-1.18	4.79	1.85	0.25348	.	0.170692	0.39985	N	0.001208	D	0.82296	0.5006	L	0.57536	1.79	0.35279	D	0.781174	D	0.89917	1.0	D	0.73708	0.981	D	0.84025	0.0356	10	0.72032	D	0.01	-44.7623	7.5351	0.27706	0.0:0.3201:0.434:0.2458	.	500	Q86UK5	LBN_HUMAN	W	500;420;500	ENSP00000339954:R500W;ENSP00000311683:R420W;ENSP00000342144:R500W	ENSP00000311683:R420W	R	-	1	2	EVC2	5684633	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	1.242000	0.32755	0.516000	0.28340	0.505000	0.49811	CGG		0.512	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		47	245	0	0	0	1	0	47	245					A	5633732	G	A	5633732	3	1	79	1	0	0	0	0	1	0	0	0	5304	1086	38	1	2476	1	EVC2	4	5633732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13434	5633732	185520544	5060	15377											
EVC	2121	broad.mit.edu	37	chr4	5803763	5803763	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcgtattaccagcaaatCggaaggatcatggaggacca	12	9	1	0	rs202236029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000264956.6	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000382674.2_Silent_p.I797I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	797					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2389-2391)atC>atT		Ellis van Creveld syndrome							74	76	75					4																	5803763		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5803763C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2391C>T	4.37:g.5803763C>T						EVC_ENST00000264956.6_Silent_p.I797I	p.I797I			P57679	EVC_HUMAN			16	2575	+		Myeloproliferative disorder(84;0.117)	797						Silent	SNP	ENST00000264956.6	37	c.2391C>T	CCDS3383.1																																																																																				0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			34	192	0	0	0	1	0	34	192					T	5803763	C	T	5803763	2	4	79	1	0	0	0	0	0	0	0	1	5303	874	31	1		1	EVC	4	5803763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	5803763	185350513	5061	15378											
CRMP1	1400	broad.mit.edu	37	chr4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtaccagcttgtgatgtCcacgtggagggagtaatcac	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000397890.2	-	4	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	140					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGTGATGTCCACGTGGAGG	0.552																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(760-762)Gac>Aac		collapsin response mediator protein 1							122	103	109					4																	5857930		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5857930C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.418G>A	4.37:g.5857930C>T	ENSP00000380987:p.Asp140Asn					CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000397890.2_Missense_Mutation_p.D140N	p.D254N	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	4	848	-			140					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.760G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	c	18.20	3.571960	0.65765	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90004	-2.6;-2.6;-2.6	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.64676	1.99	0.51233	D	0.999913	B;B;B;D	0.89917	0.34;0.447;0.226;1.0	B;B;B;D	0.97110	0.232;0.186;0.132;1.0	D	0.92602	0.6092	10	0.52906	T	0.07	-26.4066	13.358	0.60640	0.0:1.0:0.0:0.0	.	254;138;140;77	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	254;140;140;138	ENSP00000321606:D254N;ENSP00000380987:D140N;ENSP00000425742:D138N	ENSP00000321606:D254N	D	-	1	0	CRMP1	5908831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GAC		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		60	226	0	0	0	1	0	60	226					T	5857930	C	T	5857930	3	4	79	1	0	0	0	0	1	0	0	0	3899	855	30	2	1344	2	CRMP1	4	5857930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54167	5857930	185296346	5062	15379											
C4orf50	389197	broad.mit.edu	37	chr4	5966868	5966868	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaggattcaagaggtatgtCtgagctggaagggaaaattc	13	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000324058.5	-	6	551	c.462G>A	c.(460-462)caG>caA	p.Q154Q	C4orf50_ENST00000531445.1_Silent_p.Q628Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1882-1884)caG>caA		chromosome 4 open reading frame 50							69	74	72					4																	5966868		2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5966868C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.462G>A	4.37:g.5966868C>T						C4orf50_ENST00000324058.5_Silent_p.Q154Q	p.Q628Q			Q6ZRC1	CD050_HUMAN			6	1930	-			154						Silent	SNP	ENST00000324058.5	37	c.1884G>A																																																																																					0.507	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		39	212	0	0	0	1	0	39	212					T	5966868	C	T	5966868	2	4	79	1	0	0	0	0	0	0	0	1	2283	912	32	2		2	C4orf50	4	5966868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108938	5966868	185187408	5063	15380											
C4orf50	389197	broad.mit.edu	37	chr4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggtgggtgatcaggCggttcctctcccggcacttc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000324058.5	-	4	358	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C4orf50_ENST00000531445.1_Missense_Mutation_p.R564H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	90										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTGATCAGGCGGTTCCTCTC	0.632																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1690-1692)cGc>cAc		chromosome 4 open reading frame 50							69	62	64					4																	5975525		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5975525C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.269G>A	4.37:g.5975525C>T	ENSP00000317287:p.Arg90His					C4orf50_ENST00000324058.5_Missense_Mutation_p.R90H	p.R564H			Q6ZRC1	CD050_HUMAN			4	1737	-			90						Missense_Mutation	SNP	ENST00000324058.5	37	c.1691G>A		.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070634	0.01918	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23552	1.9;1.9	4.6	-8.19	0.01049	.	1.351300	0.05126	N	0.491658	T	0.05227	0.0139	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25950	-1.0117	10	0.14656	T	0.56	-2.3071	3.5234	0.07751	0.1109:0.4458:0.1113:0.332	.	90	Q6ZRC1	CD050_HUMAN	H	564;90	ENSP00000437121:R564H;ENSP00000317287:R90H	ENSP00000317287:R90H	R	-	2	0	C4orf50	6026426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.011000	0.01452	-1.989000	0.00979	-0.254000	0.11334	CGC		0.632	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		16	320	0	0	0	1	0	16	320					T	5975525	C	T	5975525	3	4	79	1	0	0	0	0	1	0	0	0	2283	768	27	1	577	1	C4orf50	4	5975525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8657	5975525	185178751	5064	15381											
C4orf50	389197	broad.mit.edu	37	chr4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgctttttctgaagttcttCaagctgaaataaaagcgaca	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000324058.5	-	3	261	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C4orf50_ENST00000531445.1_Missense_Mutation_p.E532K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	58										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1594-1596)Gaa>Aaa		chromosome 4 open reading frame 50							116	108	111					4																	5977679		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5977679C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.172G>A	4.37:g.5977679C>T	ENSP00000317287:p.Glu58Lys					C4orf50_ENST00000324058.5_Missense_Mutation_p.E58K	p.E532K			Q6ZRC1	CD050_HUMAN			3	1640	-			58						Missense_Mutation	SNP	ENST00000324058.5	37	c.1594G>A		.	.	.	.	.	.	.	.	.	.	C	9.182	1.023939	0.19433	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.25250	1.81;1.81	3.2	0.226	0.15353	.	1.293370	0.05830	N	0.617356	T	0.19604	0.0471	L	0.43152	1.355	0.09310	N	1	P	0.36535	0.557	B	0.30572	0.117	T	0.23726	-1.0180	10	0.54805	T	0.06	0.1767	5.5477	0.17073	0.0:0.4933:0.3869:0.1198	.	58	Q6ZRC1	CD050_HUMAN	K	532;58	ENSP00000437121:E532K;ENSP00000317287:E58K	ENSP00000317287:E58K	E	-	1	0	C4orf50	6028580	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.081000	0.14823	-0.111000	0.12001	0.455000	0.32223	GAA		0.428	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		23	214	0	0	0	1	0	23	214					T	5977679	C	T	5977679	3	4	79	1	0	0	0	0	1	0	0	0	2283	835	29	2	678	2	C4orf50	4	5977679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2154	5977679	185176597	5065	15382											
JAKMIP1	152789	broad.mit.edu	37	chr4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcgatgccttttggagCgcaacagccgttctctctcc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000282924.5	-	8	1747	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTGGAGCGCAACAGCCG	0.567																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1261-1263)cGc>cAc		janus kinase and microtubule interacting protein 1							109	87	94					4																	6080706		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6080706C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1262G>A	4.37:g.6080706C>T	ENSP00000282924:p.Arg421His					JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H	p.R421H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			8	1711	-			421			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1262G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087251	0.55968	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35048	1.74;1.75;1.75;1.33	5.24	5.24	0.73138	.	0.080268	0.53938	N	0.000057	T	0.49253	0.1546	M	0.73962	2.25	0.43462	D	0.995669	D;B;D;B	0.71674	0.998;0.01;0.994;0.01	P;B;P;B	0.48488	0.579;0.003;0.579;0.003	T	0.55444	-0.8140	10	0.52906	T	0.07	.	17.8446	0.88725	0.0:1.0:0.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	H	421;421;313;421;421;256	ENSP00000386711:R421H;ENSP00000282924:R421H;ENSP00000386925:R421H;ENSP00000386745:R256H	ENSP00000282924:R421H	R	-	2	0	JAKMIP1	6131607	0.972000	0.33761	0.993000	0.49108	0.960000	0.62799	2.320000	0.43797	2.445000	0.82738	0.655000	0.94253	CGC		0.567	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		49	200	0	0	0	1	0	49	200					T	6080706	C	T	6080706	3	4	79	1	0	0	0	0	1	0	0	0	7970	768	27	1	1364	1	JAKMIP1	4	6080706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103027	6080706	185073570	5066	15383											
WFS1	7466	broad.mit.edu	37	chr4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccctgcagaagcagaggCgcatgctggagcgcctggtc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(682-684)Cgc>Tgc		Wolfram syndrome 1 (wolframin)							45	39	41					4																	6293694		2195	4298	6493	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6293694C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.682C>T	4.37:g.6293694C>T	ENSP00000226760:p.Arg228Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	6	852	+			228					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.682C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854440	0.71719	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.94966	-3.57;-3.57	4.37	3.46	0.39613	.	0.052887	0.64402	D	0.000001	D	0.95538	0.8550	L	0.54323	1.7	0.49130	D	0.99975	D	0.89917	1.0	D	0.75484	0.986	D	0.94871	0.8030	10	0.54805	T	0.06	-44.9845	11.1008	0.48172	0.3123:0.6877:0.0:0.0	.	228	O76024	WFS1_HUMAN	C	228	ENSP00000423337:R228C;ENSP00000226760:R228C	ENSP00000226760:R228C	R	+	1	0	WFS1	6344595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.994000	0.49433	2.144000	0.66660	0.561000	0.74099	CGC		0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			20	73	0	0	0	1	0	20	73					T	6293694	C	T	6293694	3	4	79	1	0	0	0	0	1	0	0	0	17414	768	27	1	700	1	WFS1	4	6293694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212988	6293694	184860582	5067	15384											
WFS1	7466	broad.mit.edu	37	chr4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtgttccaggacaGcaaggcctgggagaacttcc	12	12	1	1	rs397517194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	368					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1102-1104)aGc>aTc		Wolfram syndrome 1 (wolframin)							268	207	228					4																	6302625		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302625G>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1103G>T	4.37:g.6302625G>T	ENSP00000226760:p.Ser368Ile					WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1273	+			368					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1103G>T	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.70|16.70	3.195734|3.195734	0.58126|0.58126	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.90900	.|-2.75;-2.75	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.149328	.|0.56097	.|D	.|0.000026	D|D	0.92028|0.92028	0.7474|0.7474	M|M	0.62723|0.62723	1.935|1.935	0.49483|0.49483	D|D	0.999797|0.999797	.|P	.|0.43633	.|0.813	.|P	.|0.48840	.|0.592	D|D	0.93101|0.93101	0.6508|0.6508	5|10	.|0.72032	.|D	.|0.01	-32.0773|-32.0773	16.9399|16.9399	0.86215|0.86215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368	.|O76024	.|WFS1_HUMAN	S|I	246|368	.|ENSP00000423337:S368I;ENSP00000226760:S368I	.|ENSP00000226760:S368I	A|S	+|+	1|2	0|0	WFS1|WFS1	6353526|6353526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.765000|0.765000	0.43378|0.43378	7.258000|7.258000	0.78371|0.78371	2.240000|2.240000	0.73641|0.73641	0.556000|0.556000	0.70494|0.70494	GCA|AGC		0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			98	513	1	0	2.37326e-55	1	2.96608e-55	98	513					T	6302625	G	T	6302625	3	4	79	1	0	0	0	0	1	0	0	0	17414	971	34	3	1129	3	WFS1	4	6302625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8931	6302625	184851651	5068	15385											
WFS1	7466	broad.mit.edu	37	chr4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctctatctcttcttcCgcatggcacagctgaggaat	8	13	3	1	rs371911218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	517					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CD993079	WFS1	D		c.(1549-1551)Cgc>Tgc		Wolfram syndrome 1 (wolframin)			CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122	100	107		1549,1549	3.5	1	4		107	0,8600		0,0,4300	no	missense,missense	WFS1	NM_006005.3,NM_001145853.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	517/891,517/891	6303071	1,13005	2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303071C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1549C>T	4.37:g.6303071C>T	ENSP00000226760:p.Arg517Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1719	+			517					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1549C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225411	0.22457	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.81821	-1.54;-1.54	4.38	3.45	0.39498	.	0.127040	0.53938	D	0.000044	T	0.75496	0.3857	M	0.61703	1.905	0.53688	D	0.999979	B	0.22414	0.069	B	0.16722	0.016	T	0.76591	-0.2903	10	0.87932	D	0	-51.3577	9.4528	0.38736	0.3831:0.6168:0.0:0.0	.	517	O76024	WFS1_HUMAN	C	517	ENSP00000423337:R517C;ENSP00000226760:R517C	ENSP00000226760:R517C	R	+	1	0	WFS1	6353972	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.007000	0.40883	2.269000	0.75478	0.561000	0.74099	CGC		0.577	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			116	527	0	0	0	1	0	116	527					T	6303071	C	T	6303071	3	4	79	1	0	0	0	0	1	0	0	0	17414	652	23	1	1575	1	WFS1	4	6303071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	6303071	184851205	5069	15386											
WFS1	7466	broad.mit.edu	37	chr4	6303313	6303313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctggagctcaccaagatCgcagtcaccgtggcggtctg	12	13	4	1	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	597					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1789-1791)atC>atT		Wolfram syndrome 1 (wolframin)		C	,	2,4404	4.2+/-10.8	0,2,2201	131	124	126		1791,1791	-0.3	0	4	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	597/891,597/891	6303313	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303313C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1791C>T	4.37:g.6303313C>T						WFS1_ENST00000503569.1_Silent_p.I597I	p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1961	+			597					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.1791C>T	CCDS3386.1																																																																																				0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			23	624	0	0	0	1	0	23	624					T	6303313	C	T	6303313	2	4	79	1	0	0	0	0	0	0	0	1	17414	874	31	1		1	WFS1	4	6303313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	6303313	184850963	5070	15387											
WFS1	7466	broad.mit.edu	37	chr4	6303910	6303910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcagccgcgaggaggaCgacgtcaccaaggacatcgt	14	13	1	0	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	796					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2386-2388)gaC>gaT		Wolfram syndrome 1 (wolframin)							33	36	35					4																	6303910		2203	4298	6501	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303910C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2388C>T	4.37:g.6303910C>T						WFS1_ENST00000503569.1_Silent_p.D796D	p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2558	+			796					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2388C>T	CCDS3386.1																																																																																				0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			55	220	0	0	0	1	0	55	220					T	6303910	C	T	6303910	2	4	79	1	0	0	0	0	0	0	0	1	17414	535	19	1		1	WFS1	4	6303910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	6303910	184850366	5071	15388											
WFS1	7466	broad.mit.edu	37	chr4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcaccaaggacatcgtgCtgcgggccagcagcgagttc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	804					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2410-2412)Ctg>Atg		Wolfram syndrome 1 (wolframin)							39	42	41					4																	6303932		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303932C>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2410C>A	4.37:g.6303932C>A	ENSP00000226760:p.Leu804Met					WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2580	+			804					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2410C>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663252	0.67700	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95342	-3.68;-3.68	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.95655	0.8587	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96219	0.9159	10	0.72032	D	0.01	-23.9621	18.573	0.91144	0.0:1.0:0.0:0.0	.	804	O76024	WFS1_HUMAN	M	804;804;182	ENSP00000423337:L804M;ENSP00000226760:L804M	ENSP00000226760:L804M	L	+	1	2	WFS1	6354833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.248000	0.43160	2.636000	0.89361	0.561000	0.74099	CTG		0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			54	245	1	0	9.45407e-15	1	1.02924e-14	54	245					A	6303932	C	A	6303932	3	1	79	1	0	0	0	0	1	0	0	0	17414	796	28	3	2436	3	WFS1	4	6303932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	6303932	184850344	5072	15389											
MAN2B2	23324	broad.mit.edu	37	chr4	6578436	6578436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatggcgtcgcctcggaCcagcagaaataccaggtaat	13	10	0	1	rs368603888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	90					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(268-270)gaC>gaT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	65	65	65		270	-0.5	0.1	4		65	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		90/1010	6578436	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578436C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.270C>T	4.37:g.6578436C>T						MAN2B2_ENST00000504248.1_Silent_p.D90D	p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			2	306	+			90					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.270C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.043348	0.01997	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	3.67	-0.46	0.12175	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	7.1801	0.25768	0.0:0.2972:0.4966:0.2062	.	.	.	.	I	89	.	.	T	+	2	0	MAN2B2	6629337	0.000000	0.05858	0.135000	0.22099	0.251000	0.25915	-0.223000	0.09177	-0.768000	0.04626	-1.358000	0.01219	ACC		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		77	358	0	0	0	1	0	77	358					T	6578436	C	T	6578436	2	4	79	1	0	0	0	0	0	0	0	1	9258	506	18	2		2	MAN2B2	4	6578436	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274504	6578436	184575840	5073	15390											
MAN2B2	23324	broad.mit.edu	37	chr4	6598925	6598925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgccttgttgtatgcCggggagtccatgttcacacg	13	12	1	0	rs372728164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	381					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1141-1143)gcC>gcT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	81	90	87		1143	-9.5	0.1	4		87	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/1010	6598925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6598925C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1143C>T	4.37:g.6598925C>T						MAN2B2_ENST00000504248.1_Silent_p.A330A	p.A381A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			8	1179	+			381					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.1143C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366790	0.24771	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	5.13	-9.49	0.00587	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-25.9402	2.8042	0.05423	0.347:0.1042:0.0869:0.4619	.	.	.	.	L	380	.	.	P	+	2	0	MAN2B2	6649826	0.001000	0.12720	0.138000	0.22173	0.985000	0.73830	-2.311000	0.01128	-1.699000	0.01416	-0.275000	0.10095	CCG		0.672	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		159	813	0	0	0	1	0	159	813					T	6598925	C	T	6598925	2	4	79	1	0	0	0	0	0	0	0	1	9258	639	23	1		1	MAN2B2	4	6598925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20489	6598925	184555351	5074	15391											
MAN2B2	23324	broad.mit.edu	37	chr4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagcagctccagcagcttCgctgggccgtctccgaggta	13	14	1	0	rs372236715	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	411					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		17883	0.0		0.0	False		,,,				2504	0.002					ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1231-1233)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	1,4403		0,1,2201	32	37	35		1231	4.4	1	4		35	0,8594		0,0,4297	no	missense	MAN2B2	NM_015274.1	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	411/1010	6599013	1,12997	2202	4297	6499	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6599013C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1231C>T	4.37:g.6599013C>T	ENSP00000285599:p.Arg411Cys					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	p.R411C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			8	1267	+			411					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1231C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900586	0.72754	2.27E-4	0.0	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.77358	-1.09;-1.09	5.27	4.42	0.53409	Glycoside hydrolase, family 38, central domain (2);	0.171581	0.51477	D	0.000090	D	0.90400	0.6995	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90863	0.4740	10	0.87932	D	0	-28.4917	8.4584	0.32912	0.1536:0.7633:0.0:0.0831	.	360;411;411	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	411;360	ENSP00000285599:R411C;ENSP00000423129:R360C	ENSP00000285599:R411C	R	+	1	0	MAN2B2	6649914	0.907000	0.30839	1.000000	0.80357	0.968000	0.65278	1.407000	0.34657	1.195000	0.43115	0.643000	0.83706	CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		91	387	0	0	0	1	0	91	387					T	6599013	C	T	6599013	3	4	79	1	0	0	0	0	1	0	0	0	9258	884	31	1	1261	1	MAN2B2	4	6599013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	6599013	184555263	5075	15392											
KIAA0232	9778	broad.mit.edu	37	chr4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcttcatcatccacaGccccaccagctagcacagat	5	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	212							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCATCCACAGCCCCACCAGC	0.463																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(634-636)Gcc>Tcc		KIAA0232							115	120	118					4																	6862743		2046	4199	6245	SO:0001583	missense	9778						ATP binding	g.chr4:6862743G>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.634G>T	4.37:g.6862743G>T	ENSP00000303928:p.Ala212Ser					KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	1089	+			212					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.634G>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059173	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.106608	0.64402	D	0.000005	T	0.53818	0.1820	N	0.24115	0.695	0.39144	D	0.962104	P	0.37370	0.592	B	0.42771	0.397	T	0.60791	-0.7193	9	0.72032	D	0.01	-7.13	19.4461	0.94847	0.0:0.0:1.0:0.0	.	212	Q92628	K0232_HUMAN	S	212	.	ENSP00000303928:A212S	A	+	1	0	KIAA0232	6913644	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.409000	0.80053	2.603000	0.88011	0.655000	0.94253	GCC		0.463	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		122	388	1	0	4.61678e-68	1	5.85161e-68	122	388					T	6862743	G	T	6862743	3	4	79	1	0	0	0	0	1	0	0	0	8193	971	34	3	652	3	KIAA0232	4	6862743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263730	6862743	184291533	5076	15393											
KIAA0232	9778	broad.mit.edu	37	chr4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatctggctcagttttggGagtgctgttcatccagctcc	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	592							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCAGTTTTGGGAGTGCTGTTC	0.522																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(1774-1776)Gag>Aag		KIAA0232							177	165	169					4																	6863883		1981	4170	6151	SO:0001583	missense	9778						ATP binding	g.chr4:6863883G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1774G>A	4.37:g.6863883G>A	ENSP00000303928:p.Glu592Lys					KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2229	+			592					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1774G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875666	0.72180	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	.	0.159069	0.56097	D	0.000028	T	0.61565	0.2357	M	0.64997	1.995	0.80722	D	1	P	0.46142	0.873	B	0.42361	0.385	T	0.66528	-0.5901	9	0.66056	D	0.02	-25.0728	19.8218	0.96599	0.0:0.0:1.0:0.0	.	592	Q92628	K0232_HUMAN	K	592	.	ENSP00000303928:E592K	E	+	1	0	KIAA0232	6914784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.678000	0.91216	0.655000	0.94253	GAG		0.522	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		86	407	0	0	0	1	0	86	407					A	6863883	G	A	6863883	3	1	79	1	0	0	0	0	1	0	0	0	8193	1175	41	2	1792	2	KIAA0232	4	6863883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1140	6863883	184290393	5077	15394											
KIAA0232	9778	broad.mit.edu	37	chr4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctaatatgcttgggaaaAcacagtctagattgctaata	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	684							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTGGGAAAACACAGTCTAG	0.348																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2050-2052)Aca>Gca		KIAA0232							65	61	62					4																	6864159		1839	4088	5927	SO:0001583	missense	9778						ATP binding	g.chr4:6864159A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2050A>G	4.37:g.6864159A>G	ENSP00000303928:p.Thr684Ala					KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2505	+			684					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2050A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809461	0.70797	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.047140	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62723	1.935	0.54753	D	0.999986	P	0.51147	0.942	P	0.50659	0.647	T	0.70189	-0.4940	9	0.72032	D	0.01	-18.0415	16.0174	0.80450	1.0:0.0:0.0:0.0	.	684	Q92628	K0232_HUMAN	A	684	.	ENSP00000303928:T684A	T	+	1	0	KIAA0232	6915060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.811000	0.91954	2.186000	0.69663	0.533000	0.62120	ACA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		36	145	0	0	0	1	0	36	145					G	6864159	A	G	6864159	3	3	79	1	0	0	0	0	1	0	0	0	8193	43	2	4	2068	4	KIAA0232	4	6864159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	6864159	184290117	5078	15395											
KIAA0232	9778	broad.mit.edu	37	chr4	6864270	6864270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccattcagaagaaacaCgttcagacaatgaaacatta	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864270C>T	ENST00000307659.5	+	7	2616	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R721C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	721							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAAGAAACACGTTCAGACAA	0.333																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2161-2163)Cgt>Tgt		KIAA0232							63	59	60					4																	6864270		1838	4083	5921	SO:0001583	missense	9778						ATP binding	g.chr4:6864270C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2161C>T	4.37:g.6864270C>T	ENSP00000303928:p.Arg721Cys					KIAA0232_ENST00000425103.1_Missense_Mutation_p.R721C	p.R721C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2616	+			721					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2161C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219025	0.79464	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80254	-0.1459	9	0.87932	D	0	-15.5989	19.8991	0.96978	0.0:1.0:0.0:0.0	.	721	Q92628	K0232_HUMAN	C	721	.	ENSP00000303928:R721C	R	+	1	0	KIAA0232	6915171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.708000	0.92522	0.655000	0.94253	CGT		0.333	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		5	202	0	0	0	1	0	5	202					T	6864270	C	T	6864270	3	4	79	1	0	0	0	0	1	0	0	0	8193	536	19	1	2179	1	KIAA0232	4	6864270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	6864270	184290006	5079	15396											
KIAA0232	9778	broad.mit.edu	37	chr4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcaatccattttcacaaGttcttcatgtagaatgctca	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1051							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTTTCACAAGTTCTTCATGT	0.398																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(3151-3153)Gtt>Att		KIAA0232							81	75	77					4																	6865260		1855	4100	5955	SO:0001583	missense	9778						ATP binding	g.chr4:6865260G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3151G>A	4.37:g.6865260G>A	ENSP00000303928:p.Val1051Ile					KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3606	+			1051					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3151G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710692	0.68730	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.64997	1.995	0.58432	D	0.999997	D	0.60575	0.988	P	0.59487	0.858	T	0.77571	-0.2538	9	0.87932	D	0	-26.2537	18.8694	0.92306	0.0:0.0:1.0:0.0	.	1051	Q92628	K0232_HUMAN	I	1051	.	ENSP00000303928:V1051I	V	+	1	0	KIAA0232	6916161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.765000	0.95021	0.655000	0.94253	GTT		0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		71	280	0	0	0	1	0	71	280					A	6865260	G	A	6865260	3	1	79	1	0	0	0	0	1	0	0	0	8193	1029	36	2	3169	2	KIAA0232	4	6865260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	990	6865260	184289016	5080	15397											
TBC1D14	57533	broad.mit.edu	37	chr4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcggggattcctaccctgGagatcgggaacccggagcct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	72					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(214-216)Gag>Aag		TBC1 domain family, member 14							42	47	45					4																	6925330		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925330G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.214G>A	4.37:g.6925330G>A	ENSP00000386921:p.Glu72Lys					TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	338	+			72					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.214G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.456469	0.96223	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.61627	0.09;2.89;2.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69529	-0.5121	10	0.59425	D	0.04	-28.4738	17.0989	0.86644	0.0:0.0:1.0:0.0	.	72	Q9P2M4	TBC14_HUMAN	K	72	ENSP00000414951:E72K;ENSP00000404041:E72K;ENSP00000386921:E72K	ENSP00000386921:E72K	E	+	1	0	TBC1D14	6976231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.256000	0.89848	2.519000	0.84933	0.655000	0.94253	GAG		0.657	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		82	336	0	0	0	1	0	82	336					A	6925330	G	A	6925330	3	1	79	1	0	0	0	0	1	0	0	0	15655	1175	41	2	216	2	TBC1D14	4	6925330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60070	6925330	184228946	5081	15398											
TBC1D14	57533	broad.mit.edu	37	chr4	7008409	7008409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctggagcttattaaaCtggacatttctagaacattt	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000409757.4	+	9	1526	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_ENST00000448507.1_Silent_p.L468L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000410031.1_Silent_p.L240L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	468	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1402-1404)Ctg>Ttg		TBC1 domain family, member 14							112	110	111					4																	7008409		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7008409C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1402C>T	4.37:g.7008409C>T						TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000448507.1_Silent_p.L468L	p.L468L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			9	1526	+			468			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.1402C>T	CCDS3394.2																																																																																				0.388	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		45	244	0	0	0	1	0	45	244					T	7008409	C	T	7008409	2	4	79	1	0	0	0	0	0	0	0	1	15655	564	20	2		2	TBC1D14	4	7008409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83079	7008409	184145867	5082	15399											
CCDC96	257236	broad.mit.edu	37	chr4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcagcggcagagaggcctgGaacctgacttccttcccctc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(418-420)ttC>ttA		coiled-coil domain containing 96							25	27	26					4																	7044246		2201	4299	6500	SO:0001583	missense	257236							g.chr4:7044246G>T	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.420C>A	4.37:g.7044246G>T	ENSP00000309285:p.Phe140Leu					RP11-367J11.2_ENST00000500031.1_RNA	p.F140L	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	482	-			140			Glu-rich.		Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.420C>A	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898438	0.33535	.	.	ENSG00000173013	ENST00000310085	T	0.47177	0.85	3.43	-2.32	0.06745	.	.	.	.	.	T	0.24586	0.0596	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.27785	T	0.31	-0.006	2.5398	0.04722	0.2174:0.4506:0.2026:0.1294	.	140	Q2M329	CCD96_HUMAN	L	140	ENSP00000309285:F140L	ENSP00000309285:F140L	F	-	3	2	CCDC96	7095147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.314000	0.08716	-0.373000	0.07131	TTC		0.701	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		43	216	1	0	1.00776e-21	1	1.13667e-21	43	216					T	7044246	G	T	7044246	3	4	79	1	0	0	0	0	1	0	0	0	2881	1165	41	3	1251	3	CCDC96	4	7044246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35837	7044246	184110030	5083	15400											
GRPEL1	80273	broad.mit.edu	37	chr4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccacccccaccagggCgggtctcagagtgcgcccat	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	209					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(625-627)Gcc>Acc		GrpE-like 1, mitochondrial (E. coli)							137	152	147					4																	7062618		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062618C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.625G>A	4.37:g.7062618C>T	ENSP00000264954:p.Ala209Thr						p.A209T	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN			4	789	-			209					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.625G>A	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734855	0.96865	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89449	0.3729	9	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	209	Q9HAV7	GRPE1_HUMAN	T	209;188	.	ENSP00000264954:A209T	A	-	1	0	GRPEL1	7113519	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.305000	0.78891	2.659000	0.90383	0.561000	0.74099	GCC		0.542	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		46	1053	0	0	0	1	0	46	1053					T	7062618	C	T	7062618	3	4	79	1	0	0	0	0	1	0	0	0	6836	768	27	1	32	1	GRPEL1	4	7062618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18372	7062618	184091658	5084	15401											
GRPEL1	80273	broad.mit.edu	37	chr4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgccacctccaacaagtCcttgcagaaggcttgaatgc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	110					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(328-330)Gac>Aac		GrpE-like 1, mitochondrial (E. coli)							82	84	84					4																	7062915		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062915C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.328G>A	4.37:g.7062915C>T	ENSP00000264954:p.Asp110Asn					GRPEL1_ENST00000514056.1_5'UTR	p.D110N	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN			4	492	-			110					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.328G>A	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162717	0.94727	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85677	0.1298	9	0.66056	D	0.02	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	110	Q9HAV7	GRPE1_HUMAN	N	110;89	.	ENSP00000264954:D110N	D	-	1	0	GRPEL1	7113816	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.312000	0.78968	2.590000	0.87494	0.462000	0.41574	GAC		0.468	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		16	456	0	0	0	1	0	16	456					T	7062915	C	T	7062915	3	4	79	1	0	0	0	0	1	0	0	0	6836	855	30	2	329	2	GRPEL1	4	7062915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	7062915	184091361	5085	15402											
SORCS2	57537	broad.mit.edu	37	chr4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagccaggggacgagaCgctggtcatgacgtgagtgc	18	8	1	4	rs201433688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	619					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGGACGAGACGCTGGTCATG	0.662																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1855-1857)aCg>aTg		sortilin-related VPS10 domain containing receptor 2		C	MET/THR	0,4272		0,0,2136	44	50	48		1856	2.7	1	4		48	4,8468		0,4,4232	yes	missense	SORCS2	NM_020777.2	81	0,4,6368	TT,TC,CC		0.0472,0.0,0.0314	probably-damaging	619/1160	7705999	4,12740	2136	4236	6372	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7705999C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1856C>T	4.37:g.7705999C>T	ENSP00000422185:p.Thr619Met					SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	p.T619M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			14	1965	+			619					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1856C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124635	0.37533	0.0	4.72E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30981	1.51;1.51	3.52	2.67	0.31697	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.85197	2.74	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60031	-0.7342	10	0.87932	D	0	.	10.0073	0.41964	0.0:0.8942:0.0:0.1058	.	447;619	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	619;447	ENSP00000422185:T619M;ENSP00000329124:T447M	ENSP00000329124:T447M	T	+	2	0	SORCS2	7756899	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.211000	0.72182	0.799000	0.34018	-0.136000	0.14681	ACG		0.662	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		12	81	0	0	0	1	0	12	81					T	7705999	C	T	7705999	3	4	79	1	0	0	0	0	1	0	0	0	14981	536	19	1	1910	1	SORCS2	4	7705999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643084	7705999	183448277	5086	15403											
SORCS2	57537	broad.mit.edu	37	chr4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcaggccacgatgaggCggtgctctttgtccaggtca	14	12	2	1	rs370833021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A713V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGATGAGGCGGTGCTCTTT	0.587																																						ENST00000507866.2																			1	Substitution - Missense(1)	p.A713V(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2587-2589)gCg>gTg		sortilin-related VPS10 domain containing receptor 2		C	VAL/ALA	0,4052		0,0,2026	46	48	47		2588	2	0	4		47	1,8347		0,1,4173	no	missense	SORCS2	NM_020777.2	64	0,1,6199	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	863/1160	7725587	1,12399	2026	4174	6200	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725587C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2588C>T	4.37:g.7725587C>T	ENSP00000422185:p.Ala863Val					SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	p.A863V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2697	+			863			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2588C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767768	0.31320	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68903	-0.36;-0.36	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (3);	0.261105	0.28883	U	0.013831	T	0.62134	0.2403	M	0.65498	2.005	0.44899	D	0.997912	P;D	0.63880	0.895;0.993	B;B	0.43018	0.198;0.405	T	0.62973	-0.6740	10	0.56958	D	0.05	.	9.4847	0.38922	0.0:0.8919:0.0:0.1081	.	691;863	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	863;691	ENSP00000422185:A863V;ENSP00000329124:A691V	ENSP00000329124:A691V	A	+	2	0	SORCS2	7776487	1.000000	0.71417	0.028000	0.17463	0.002000	0.02628	6.946000	0.75953	0.399000	0.25367	-0.373000	0.07131	GCG		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		6	275	0	0	0	1	0	6	275					T	7725587	C	T	7725587	3	4	79	1	0	0	0	0	1	0	0	0	14981	768	27	1	2662	1	SORCS2	4	7725587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19588	7725587	183428689	5087	15404											
SORCS2	57537	broad.mit.edu	37	chr4	7731317	7731317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaactctccccgcaggagAccagcgtccctcaggagctt	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	ENST00000507866.2	+	23	3095	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	996					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCGCAGGAGACCAGCGTCCC	0.627																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2986-2988)Acc>Gcc		sortilin-related VPS10 domain containing receptor 2							37	45	42					4																	7731317		2032	4200	6232	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7731317A>G	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2986A>G	4.37:g.7731317A>G	ENSP00000422185:p.Thr996Ala					SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	p.T996A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			23	3095	+			996					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2986A>G	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197626	0.38806	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.18657	2.2;2.26	4.6	4.6	0.57074	.	0.067623	0.64402	D	0.000019	T	0.26011	0.0634	M	0.69358	2.11	0.50632	D	0.999888	P;P	0.47253	0.892;0.651	B;B	0.41466	0.358;0.266	T	0.09574	-1.0668	10	0.66056	D	0.02	.	13.2364	0.59971	1.0:0.0:0.0:0.0	.	824;996	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	996;824	ENSP00000422185:T996A;ENSP00000329124:T824A	ENSP00000329124:T824A	T	+	1	0	SORCS2	7782217	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	4.535000	0.60629	1.718000	0.51419	0.514000	0.50259	ACC		0.627	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		10	41	0	0	0	1	0	10	41					G	7731317	A	G	7731317	3	3	79	1	0	0	0	0	1	0	0	0	14981	275	10	4	3076	4	SORCS2	4	7731317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5730	7731317	183422959	5088	15405											
ABLIM2	84448	broad.mit.edu	37	chr4	8062713	8062713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaagatacatctcttcGccttctgcaaacatctggcc	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000341937.5	-	7	808	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	248	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACATCTCTTCGCCTTCTGCAA	0.483																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(13-15)ggC>ggT		actin binding LIM protein family, member 2							54	56	56					4																	8062713		2071	4208	6279	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8062713G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.744C>T	4.37:g.8062713G>A						ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000341937.5_Silent_p.G248G	p.G5G			Q6H8Q1	ABLM2_HUMAN			7	886	-			248					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.15C>T	CCDS47013.1																																																																																				0.483	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		6	40	0	0	0	1	0	6	40					A	8062713	G	A	8062713	2	1	79	1	0	0	0	0	0	0	0	1	95	1074	38	1		1	ABLIM2	4	8062713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331396	8062713	183091563	5089	15406											
ABLIM2	84448	broad.mit.edu	37	chr4	8089918	8089918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggccctgggacaggtgCgcgctgctgcccaccgatac	15	15	0	0	rs367620415	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000296372.8_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													C|||	4	0.000798722	0.0023	0.0	5008	,	,		13118	0.001		0.0	False		,,,				2504	0.0					ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(430-432)gcG>gcA		actin binding LIM protein family, member 2		C	,,,,,,	9,4097		0,9,2044	32	38	36		432,432,432,432,432,432,432	-5.3	0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC		0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8089918C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.432G>A	4.37:g.8089918C>T						ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000341937.5_Silent_p.A144A	p.A144A			Q6H8Q1	ABLM2_HUMAN			4	574	-			144					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.432G>A	CCDS47013.1																																																																																				0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		19	121	0	0	0	1	0	19	121					T	8089918	C	T	8089918	2	4	79	1	0	0	0	0	0	0	0	1	95	755	27	1		1	ABLIM2	4	8089918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27205	8089918	183064358	5090	15407											
ABLIM2	84448	broad.mit.edu	37	chr4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgttgcacaggatcgCcgtgctgggcgacttctcca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000341937.5	-	2	125	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	21					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(61-63)Gcg>Acg		actin binding LIM protein family, member 2							39	45	43					4																	8108314		2113	4219	6332	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8108314C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.61G>A	4.37:g.8108314C>T	ENSP00000342813:p.Ala21Thr					ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A21T	p.A21T			Q6H8Q1	ABLM2_HUMAN			2	203	-			21					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.61G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768134	0.31320	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.32753	1.59;1.85;1.78;1.59;1.77;1.85;1.78;1.53;1.6;1.44	4.15	3.3	0.37823	.	0.171361	0.40385	N	0.001104	T	0.39759	0.1090	L	0.47716	1.5	0.80722	D	1	P;P;P;P;D;B;D;B	0.63880	0.722;0.716;0.655;0.581;0.993;0.278;0.965;0.446	B;B;B;B;P;B;P;B	0.58172	0.08;0.407;0.165;0.287;0.834;0.15;0.637;0.15	T	0.09228	-1.0684	10	0.27082	T	0.32	.	12.5547	0.56246	0.1678:0.8322:0.0:0.0	.	26;21;21;21;21;21;21;21	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	21	ENSP00000354887:A21T;ENSP00000296372:A21T;ENSP00000441255:A21T;ENSP00000444365:A21T;ENSP00000393511:A21T;ENSP00000342813:A21T;ENSP00000355003:A21T;ENSP00000384658:A21T;ENSP00000421283:A21T;ENSP00000389410:A21T	ENSP00000296372:A21T	A	-	1	0	ABLIM2	8159214	0.014000	0.17966	0.957000	0.39632	0.118000	0.20060	1.027000	0.30115	1.079000	0.41038	0.462000	0.41574	GCG		0.592	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		20	76	0	0	0	1	0	20	76					T	8108314	C	T	8108314	3	4	79	1	0	0	0	0	1	0	0	0	95	739	26	2	2010	2	ABLIM2	4	8108314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18396	8108314	183045962	5091	15408											
SH3TC1	54436	broad.mit.edu	37	chr4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaccttccgaggtggcGacctcatcgagatccttggg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000245105.3	+	9	1055	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	330	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(760-762)Gac>Aac		SH3 domain and tetratricopeptide repeats 1							51	56	54					4																	8221133		2202	4300	6502	SO:0001583	missense	54436						binding	g.chr4:8221133G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.988G>A	4.37:g.8221133G>A	ENSP00000245105:p.Asp330Asn					SH3TC1_ENST00000245105.3_Missense_Mutation_p.D330N	p.D254N			Q8TE82	S3TC1_HUMAN			9	1134	+			330					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.760G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710603	0.68730	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.27104	1.69;1.69;1.69	4.21	4.21	0.49690	Src homology-3 domain (3);	0.140683	0.45606	D	0.000346	T	0.48295	0.1492	M	0.67397	2.05	0.29588	N	0.848666	D	0.89917	1.0	D	0.87578	0.998	T	0.49744	-0.8907	10	0.87932	D	0	-26.9103	13.7276	0.62767	0.0:0.0:1.0:0.0	.	330	Q8TE82	S3TC1_HUMAN	N	68;330;254;159;139	ENSP00000245105:D330N;ENSP00000441045:D254N;ENSP00000426035:D139N	ENSP00000245105:D330N	D	+	1	0	SH3TC1	8272033	1.000000	0.71417	0.039000	0.18376	0.452000	0.32318	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAC		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		102	404	0	0	0	1	0	102	404					A	8221133	G	A	8221133	3	1	79	1	0	0	0	0	1	0	0	0	14311	1058	37	1	1018	1	SH3TC1	4	8221133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112819	8221133	182933143	5092	15409											
SH3TC1	54436	broad.mit.edu	37	chr4	8228996	8228996	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatgtggcgctgccgtgGctgagcagcgtgttccgcag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	ENST00000245105.3	+	12	1642	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.W449*|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	525										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGCCGTGGCTGAGCAGCG	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1345-1347)tgG>tgA		SH3 domain and tetratricopeptide repeats 1							12	12	12					4																	8228996		2186	4283	6469	SO:0001587	stop_gained	54436						binding	g.chr4:8228996G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1575G>A	4.37:g.8228996G>A	ENSP00000245105:p.Trp525*					SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.W525*	p.W449*			Q8TE82	S3TC1_HUMAN			12	1721	+			525					Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	c.1347G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984784	0.35036	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.66	-2.8	0.05823	.	1.420050	0.04144	N	0.320109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.6626	3.8624	0.09002	0.0804:0.3468:0.1596:0.4133	.	.	.	.	X	263;525;449;354	.	ENSP00000245105:W525X	W	+	3	0	SH3TC1	8279896	0.190000	0.23276	0.001000	0.08648	0.018000	0.09664	0.169000	0.16641	-0.229000	0.09854	0.561000	0.74099	TGG		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		16	103	0	0	0	1	0	16	103					A	8228996	G	A	8228996	4	1	79	1	0	0	0	0	0	1	0	0	14311	1212	42	2	1617	2	SH3TC1	4	8228996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7863	8228996	182925280	5093	15410											
SH3TC1	54436	broad.mit.edu	37	chr4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacgccccccagccccacaGcctccctgcccaaacttccc	5	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000245105.3	+	12	2346	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	760										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2050-2052)aGc>aTc		SH3 domain and tetratricopeptide repeats 1							35	33	34					4																	8229700		2202	4299	6501	SO:0001583	missense	54436						binding	g.chr4:8229700G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2279G>T	4.37:g.8229700G>T	ENSP00000245105:p.Ser760Ile					SH3TC1_ENST00000245105.3_Missense_Mutation_p.S760I	p.S684I			Q8TE82	S3TC1_HUMAN			12	2425	+			760					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2051G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453765	0.04540	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.36;-1.01	4.37	1.16	0.20824	.	1.375830	0.04225	N	0.334160	T	0.62636	0.2444	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.45220	-0.9276	10	0.31617	T	0.26	-5.0404	1.8949	0.03255	0.1975:0.1081:0.4473:0.247	.	760	Q8TE82	S3TC1_HUMAN	I	498;760;684;589	ENSP00000245105:S760I;ENSP00000441045:S684I	ENSP00000245105:S760I	S	+	2	0	SH3TC1	8280600	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.102000	0.15272	0.302000	0.22762	0.462000	0.41574	AGC		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		64	274	1	0	7.41606e-26	1	8.52628e-26	64	274					T	8229700	G	T	8229700	3	4	79	1	0	0	0	0	1	0	0	0	14311	971	34	3	2321	3	SH3TC1	4	8229700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	8229700	182924576	5094	15411											
SH3TC1	54436	broad.mit.edu	37	chr4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatgacgcaggcagtggaaGccagtgctattgccggagtc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000245105.3	+	12	2510	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	815										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2215-2217)Gcc>Tcc		SH3 domain and tetratricopeptide repeats 1							46	42	43					4																	8229864		2202	4297	6499	SO:0001583	missense	54436						binding	g.chr4:8229864G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2443G>T	4.37:g.8229864G>T	ENSP00000245105:p.Ala815Ser					SH3TC1_ENST00000245105.3_Missense_Mutation_p.A815S	p.A739S			Q8TE82	S3TC1_HUMAN			12	2589	+			815					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2215G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273038	0.01421	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.72835	-0.69;-0.69	4.32	1.39	0.22231	Tetratricopeptide-like helical (1);	0.563940	0.18719	N	0.133078	T	0.48804	0.1520	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15549	-1.0433	10	0.19147	T	0.46	-6.7967	0.7923	0.01059	0.1778:0.2438:0.2871:0.2913	.	815	Q8TE82	S3TC1_HUMAN	S	553;815;739;644	ENSP00000245105:A815S;ENSP00000441045:A739S	ENSP00000245105:A815S	A	+	1	0	SH3TC1	8280764	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.279000	0.08479	0.278000	0.22164	-0.475000	0.04921	GCC		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		39	154	1	0	1.30998e-17	1	1.44773e-17	39	154					T	8229864	G	T	8229864	3	4	79	1	0	0	0	0	1	0	0	0	14311	971	34	3	2485	3	SH3TC1	4	8229864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164	8229864	182924412	5095	15412											
SH3TC1	54436	broad.mit.edu	37	chr4	8242552	8242552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacttcctcctggaccGtgagaagtcgctcttcttct	7	15	3	1	rs143876832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8242552G>A	ENST00000245105.3	+	18	3948	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R1218H	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1294										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCTGGACCGTGAGAAGTCG	0.627													G|||	6	0.00119808	0.0	0.0	5008	,	,		13259	0.004		0.0	False		,,,				2504	0.002				NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3652-3654)cGt>cAt		SH3 domain and tetratricopeptide repeats 1		G	HIS/ARG	0,4406		0,0,2203	81	83	82		3881	4.2	1	4	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SH3TC1	NM_018986.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1294/1337	8242552	2,13004	2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8242552G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3881G>A	4.37:g.8242552G>A	ENSP00000245105:p.Arg1294His					SH3TC1_ENST00000245105.3_Missense_Mutation_p.R1294H	p.R1218H			Q8TE82	S3TC1_HUMAN			18	4027	+			1294					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.3653G>A	CCDS3399.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.9	4.782714	0.90282	0.0	2.33E-4	ENSG00000125089	ENST00000245105;ENST00000539824	T;T	0.75704	-0.96;-0.96	4.18	4.18	0.49190	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	D	0.83440	0.5255	M	0.72479	2.2	0.54753	D	0.999983	D	0.76494	0.999	P	0.61940	0.896	D	0.84599	0.0671	9	.	.	.	-18.7093	16.7497	0.85482	0.0:0.0:1.0:0.0	.	1294	Q8TE82	S3TC1_HUMAN	H	1294;1218	ENSP00000245105:R1294H;ENSP00000441045:R1218H	.	R	+	2	0	SH3TC1	8293452	1.000000	0.71417	0.964000	0.40570	0.701000	0.40568	5.793000	0.69060	2.194000	0.70268	0.543000	0.68304	CGT		0.627	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		8	480	0	0	0	1	0	8	480					A	8242552	G	A	8242552	3	1	79	1	0	0	0	0	1	0	0	0	14311	1145	40	1	3947	1	SH3TC1	4	8242552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12688	8242552	182911724	5096	15413											
HTRA3	94031	broad.mit.edu	37	chr4	8284228	8284228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgacgtggtggagaagatCgcaccagccgtggtccacat	14	11	0	3	rs372926582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8284228C>T	ENST00000307358.2	+	2	654	c.450C>T	c.(448-450)atC>atT	p.I150I	HTRA3_ENST00000382512.3_Silent_p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	150					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGAGAAGATCGCACCAGCCG	0.622																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(448-450)atC>atT		HtrA serine peptidase 3							106	83	91					4																	8284228		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8284228C>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.450C>T	4.37:g.8284228C>T						HTRA3_ENST00000382512.3_Silent_p.I150I	p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			2	654	+			150					Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.450C>T	CCDS3400.1																																																																																				0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		6	188	0	0	0	1	0	6	188					T	8284228	C	T	8284228	2	4	79	1	0	0	0	0	0	0	0	1	7485	874	31	1		1	HTRA3	4	8284228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41676	8284228	182870048	5097	15414											
HTRA3	94031	broad.mit.edu	37	chr4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagacatcgacaagaagtCggacattgccaccatcaaga	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	226	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GACAAGAAGTCGGACATTGCC	0.622																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(676-678)tCg>tTg		HtrA serine peptidase 3							73	61	65					4																	8288479		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8288479C>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.677C>T	4.37:g.8288479C>T	ENSP00000303766:p.Ser226Leu					HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			3	881	+			226			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.677C>T	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612385	0.28712	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.86030	-2.06;-2.06	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000002	T	0.77758	0.4178	L	0.39692	1.235	0.80722	D	1	B;B	0.19583	0.002;0.037	B;B	0.17098	0.006;0.017	T	0.69435	-0.5146	10	0.27785	T	0.31	-14.0686	11.5947	0.50966	0.0:0.9107:0.0:0.0893	.	226;226	P83110;P83110-2	HTRA3_HUMAN;.	L	226	ENSP00000303766:S226L;ENSP00000371952:S226L	ENSP00000303766:S226L	S	+	2	0	HTRA3	8339379	0.999000	0.42202	0.764000	0.31436	0.731000	0.41821	4.413000	0.59795	0.707000	0.31934	0.462000	0.41574	TCG		0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		12	268	0	0	0	1	0	12	268					T	8288479	C	T	8288479	3	4	79	1	0	0	0	0	1	0	0	0	7485	893	31	1	687	1	HTRA3	4	8288479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	8288479	182865797	5098	15415											
ACOX3	8310	broad.mit.edu	37	chr4	8390958	8390958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctggtcaaggatgccGggataggcgtccagaaagtc	13	9	2	1	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000413009.2_Silent_p.P493P|ACOX3_ENST00000503233.1_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	493					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAGGATGCCGGGATAGGCGT	0.552																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(1477-1479)ccC>ccT		acyl-CoA oxidase 3, pristanoyl		G	,	1,4405	2.1+/-5.4	0,1,2202	78	73	75		1479,1479	-5.8	0	4	dbSNP_132	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	493/625,493/701	8390958	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8390958G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1479C>T	4.37:g.8390958G>A						ACOX3_ENST00000413009.2_Silent_p.P493P|ACOX3_ENST00000503233.1_Silent_p.P493P	p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			13	1556	-			493					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.1479C>T	CCDS3401.1																																																																																				0.552	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			30	108	0	0	0	1	0	30	108					A	8390958	G	A	8390958	2	1	79	1	0	0	0	0	0	0	0	1	160	1103	39	1		1	ACOX3	4	8390958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102479	8390958	182763318	5099	15416											
ACOX3	8310	broad.mit.edu	37	chr4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtctaaggcgtagacagCtgccagatatggaagcaagc	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	362					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(1084-1086)Gct>Act		acyl-CoA oxidase 3, pristanoyl							67	62	64					4																	8396442		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8396442C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1084G>A	4.37:g.8396442C>T	ENSP00000348775:p.Ala362Thr					ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			10	1161	-			362					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1084G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772563	0.49680	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96104	-3.91;-3.91;-3.91	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.45581	1.43	0.80722	D	1	D;D;D	0.60575	0.974;0.985;0.988	P;P;P	0.61722	0.677;0.828;0.893	D	0.93855	0.7148	10	0.20519	T	0.43	-22.3756	16.0751	0.80962	0.0:1.0:0.0:0.0	.	362;362;362	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	362	ENSP00000413994:A362T;ENSP00000348775:A362T;ENSP00000421625:A362T	ENSP00000348775:A362T	A	-	1	0	ACOX3	8447342	1.000000	0.71417	0.235000	0.24058	0.058000	0.15608	6.375000	0.73137	2.395000	0.81488	0.650000	0.86243	GCT		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			35	115	0	0	0	1	0	35	115					T	8396442	C	T	8396442	3	4	79	1	0	0	0	0	1	0	0	0	160	797	28	2	1054	2	ACOX3	4	8396442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5484	8396442	182757834	5100	15417											
CPZ	8532	broad.mit.edu	37	chr4	8616132	8616132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaactgctttgagatcacGgtagagctgggctgtgtgaa	13	8	1	3	rs376761004		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000360986.4	+	9	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000315782.6_Silent_p.T459T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	470					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.001					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(232-234)acG>acA		carboxypeptidase Z		G	,,	0,4406		0,0,2203	154	134	141		1410,999,1377	-9.5	0	4		141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	470/653,333/516,459/642	8616132	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616132G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1410G>A	4.37:g.8616132G>A						CPZ_ENST00000360986.4_Silent_p.T470T|CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000315782.6_Silent_p.T459T	p.T78T			Q66K79	CBPZ_HUMAN			7	3027	+			470			FZ.		O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.234G>A	CCDS33953.1																																																																																				0.572	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		75	337	0	0	0	1	0	75	337					A	8616132	G	A	8616132	2	1	79	1	0	0	0	0	0	0	0	1	3848	1103	39	1		1	CPZ	4	8616132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219690	8616132	182538144	5101	15418											
CPZ	8532	broad.mit.edu	37	chr4	8620238	8620238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcagtcaaaggcattcGccacgacatcaccacaggtg	9	13	3	0	rs143243881	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8620238G>A	ENST00000360986.4	+	10	1760	c.1586G>A	c.(1585-1587)cGc>cAc	p.R529H	CPZ_ENST00000382480.2_Missense_Mutation_p.R392H|CPZ_ENST00000429646.2_Missense_Mutation_p.R137H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	529					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGGCATTCGCCACGACATC	0.597													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(409-411)cGc>cAc		carboxypeptidase Z		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	104	90	94		1586,1175,1553	4.3	1	4	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	529/653,392/516,518/642	8620238	2,13004	2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8620238G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1586G>A	4.37:g.8620238G>A	ENSP00000354255:p.Arg529His					CPZ_ENST00000360986.4_Missense_Mutation_p.R529H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H	p.R137H			Q66K79	CBPZ_HUMAN			8	3203	+			529			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.410G>A	CCDS33953.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.03	2.412400	0.42817	4.54E-4	0.0	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.43688	2.54;2.54;2.54;0.94	5.16	4.32	0.51571	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.064294	0.64402	D	0.000008	T	0.54615	0.1869	L	0.49513	1.565	0.47245	D	0.999363	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.965	T	0.55496	-0.8132	10	0.62326	D	0.03	-41.6269	10.4572	0.44557	0.1709:0.0:0.8291:0.0	.	518;529	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	529;392;518;137	ENSP00000354255:R529H;ENSP00000371920:R392H;ENSP00000315074:R518H;ENSP00000403981:R137H	ENSP00000315074:R518H	R	+	2	0	CPZ	8671138	1.000000	0.71417	0.963000	0.40424	0.068000	0.16541	2.592000	0.46171	1.161000	0.42604	0.561000	0.74099	CGC		0.597	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		6	189	0	0	0	1	0	6	189					A	8620238	G	A	8620238	3	1	79	1	0	0	0	0	1	0	0	0	3848	1087	38	1	1624	1	CPZ	4	8620238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4106	8620238	182534038	5102	15419											
SLC2A9	56606	broad.mit.edu	37	chr4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaagtccaccgatggCgaatatggacacagtcacag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000264784.3	-	3	405	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC2A9_ENST00000506583.1_Missense_Mutation_p.A89T|SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	118					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCACCGATGGCGAATATGGAC	0.498																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(265-267)Gcc>Acc		solute carrier family 2 (facilitated glucose transporter), member 9							128	109	115					4																	9998463		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998463C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.352G>A	4.37:g.9998463C>T	ENSP00000264784:p.Ala118Thr					SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T|SLC2A9_ENST00000264784.3_Missense_Mutation_p.A118T	p.A89T			Q9NRM0	GTR9_HUMAN			5	482	-			118					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.265G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348115	0.82132	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;D;T;T	0.81499	-0.84;-1.5;-0.84;-0.84	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.184799	0.47093	D	0.000259	D	0.85008	0.5599	L	0.46885	1.475	0.38926	D	0.95783	P;D	0.62365	0.95;0.991	P;D	0.65684	0.643;0.937	D	0.84646	0.0698	9	.	.	.	.	14.7852	0.69796	0.0:1.0:0.0:0.0	.	89;118	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	89;118;89;89	ENSP00000422209:A89T;ENSP00000264784:A118T;ENSP00000311383:A89T;ENSP00000426800:A89T	.	A	-	1	0	SLC2A9	9607561	0.995000	0.38212	0.993000	0.49108	0.958000	0.62258	1.740000	0.38228	2.643000	0.89663	0.644000	0.83932	GCC		0.498	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			62	291	0	0	0	1	0	62	291					T	9998463	C	T	9998463	3	4	79	1	0	0	0	0	1	0	0	0	14602	768	27	1	1310	1	SLC2A9	4	9998463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1378225	9998463	181155813	5103	15420											
WDR1	9948	broad.mit.edu	37	chr4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacacccccaattgccAccgtgtccccgccggggtgc	9	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000499869.2	-	12	1572	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A			O75083	WDR1_HUMAN	WD repeat domain 1	460					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1378-1380)gTg>gCg		WD repeat domain 1							80	97	91					4																	10080531		2013	4173	6186	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080531A>G	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1379T>C	4.37:g.10080531A>G	ENSP00000427687:p.Val460Ala					WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V460A	p.V460A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1661	-			460					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.1379T>C	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695137	0.15039	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.54479	0.57;0.57;0.78;0.78	4.65	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.238849	0.42172	D	0.000747	T	0.37652	0.1011	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-18.0285	8.0394	0.30513	0.8561:0.0:0.1439:0.0	.	320;460	O75083-3;O75083	.;WDR1_HUMAN	A	460;460;320;320;295	ENSP00000427687:V460A;ENSP00000371890:V460A;ENSP00000371889:V320A;ENSP00000426725:V320A	ENSP00000371889:V320A	V	-	2	0	WDR1	9689629	0.996000	0.38824	0.986000	0.45419	0.052000	0.14988	2.015000	0.40961	1.864000	0.54056	0.379000	0.24179	GTG		0.597	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			44	191	0	0	0	1	0	44	191					G	10080531	A	G	10080531	3	3	79	1	0	0	0	0	1	0	0	0	17326	159	6	4	457	4	WDR1	4	10080531	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82068	10080531	181073745	5104	15421											
WDR1	9948	broad.mit.edu	37	chr4	10099401	10099401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagttatcatcgcttccCgtggccagccggtatggccg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000499869.2	-	5	685	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	164					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(490-492)acG>acA		WD repeat domain 1							67	72	70					4																	10099401		1970	4158	6128	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099401C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.492G>A	4.37:g.10099401C>T						WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Silent_p.T164T	p.T164T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	774	-			164					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.492G>A	CCDS54740.1																																																																																				0.507	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			49	201	0	0	0	1	0	49	201					T	10099401	C	T	10099401	2	4	79	1	0	0	0	0	0	0	0	1	17326	639	23	1		1	WDR1	4	10099401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18870	10099401	181054875	5105	15422											
WDR1	9948	broad.mit.edu	37	chr4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaaaggctggtactcaTacttcaacaggtgctccttc	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000499869.2	-	4	480	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	96					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(286-288)tAt>tGt		WD repeat domain 1							115	118	117					4																	10100706		2011	4187	6198	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100706T>C	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.287A>G	4.37:g.10100706T>C	ENSP00000427687:p.Tyr96Cys					WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.Y96C	p.Y96C	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	4	569	-			96					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.287A>G	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892974	0.72524	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56103	0.48;0.48;0.57	5.91	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059555	0.64402	D	0.000001	T	0.70613	0.3244	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.70821	-0.4768	10	0.39692	T	0.17	-14.3005	11.6533	0.51301	0.1329:0.0:0.0:0.8671	.	96	O75083	WDR1_HUMAN	C	96;96;100	ENSP00000427687:Y96C;ENSP00000371890:Y96C;ENSP00000425481:Y100C	ENSP00000371890:Y96C	Y	-	2	0	WDR1	9709804	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.662000	0.83803	1.017000	0.39495	0.533000	0.62120	TAT		0.582	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			55	374	0	0	0	1	0	55	374					C	10100706	T	C	10100706	3	2	79	1	0	0	0	0	1	0	0	0	17326	1406	49	4	1581	4	WDR1	4	10100706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1305	10100706	181053570	5106	15423											
ZNF518B	85460	broad.mit.edu	37	chr4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggatggtgctacagacaGcactctcttttctcagttta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	852					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)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2554-2556)gCt>gTt		zinc finger protein 518B							76	75	75					4																	10445398		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445398G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2555C>T	4.37:g.10445398G>A	ENSP00000317614:p.Ala852Val						p.A852V	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2993	-			852					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2555C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829330	0.50845	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	3.3	0.37823	.	0.580762	0.16657	N	0.204927	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46898	-0.9158	10	0.37606	T	0.19	-3.4808	7.1753	0.25740	0.1424:0.0:0.7213:0.1363	.	852	Q9C0D4	Z518B_HUMAN	V	852	ENSP00000317614:A852V	ENSP00000317614:A852V	A	-	2	0	ZNF518B	10054496	0.002000	0.14202	0.176000	0.23000	0.082000	0.17680	1.124000	0.31320	0.887000	0.36136	0.655000	0.94253	GCT		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		87	307	0	0	0	1	0	87	307					A	10445398	G	A	10445398	3	1	79	1	0	0	0	0	1	0	0	0	18016	971	34	2	673	2	ZNF518B	4	10445398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344692	10445398	180708878	5107	15424											
HS3ST1	9957	broad.mit.edu	37	chr4	11400937	11400937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagctttaggaacctctcGaccttttggatctcagggaa	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	231					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(691-693)gtC>gtT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							38	39	39					4																	11400937		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400937G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.693C>T	4.37:g.11400937G>A							p.V231V	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1867	-			231					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.693C>T	CCDS3408.1																																																																																				0.567	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		31	184	0	0	0	1	0	31	184					A	11400937	G	A	11400937	2	1	79	1	0	0	0	0	0	0	0	1	7393	1045	37	1		1	HS3ST1	4	11400937	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	955539	11400937	179753339	5108	15425											
HS3ST1	9957	broad.mit.edu	37	chr4	11401429	11401429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctccagcagtgcgcgCgtgccgcccttgcgcacgcc	12	18	1	0	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	67					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(199-201)acG>acA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		C		1,4405	2.1+/-5.4	0,1,2202	48	40	43		201	-11	0.8	4	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	HS3ST1	NM_005114.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		67/308	11401429	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401429C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.201G>A	4.37:g.11401429C>T							p.T67T	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1375	-			67					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.201G>A	CCDS3408.1																																																																																				0.677	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		52	243	0	0	0	1	0	52	243					T	11401429	C	T	11401429	2	4	79	1	0	0	0	0	0	0	0	1	7393	755	27	1		1	HS3ST1	4	11401429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	11401429	179752847	5109	15426											
RAB28	9364	broad.mit.edu	37	chr4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgcacacatagagctTctaggagggttaacagtcct	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	214					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453																																						ENST00000330852.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(640-642)agA>agC		RAB28, member RAS oncogene family							166	148	154					4																	13370206		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13370206T>G	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.642A>C	4.37:g.13370206T>G	ENSP00000328551:p.Arg214Ser					RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	p.R214S	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN			7	856	-			214					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.642A>C	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796757	0.50208	.	.	ENSG00000157869	ENST00000330852	T	0.69040	-0.37	6.07	-1.16	0.09678	.	0.111387	0.64402	N	0.000013	T	0.45875	0.1364	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.07177	-1.0786	10	0.45353	T	0.12	.	6.2495	0.20837	0.0:0.1625:0.2382:0.5993	.	214	P51157	RAB28_HUMAN	S	214	ENSP00000328551:R214S	ENSP00000328551:R214S	R	-	3	2	RAB28	12979304	0.909000	0.30893	0.916000	0.36221	0.997000	0.91878	-0.038000	0.12144	-0.392000	0.07751	0.533000	0.62120	AGA		0.453	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		50	269	0	0	0	1	0	50	269					G	13370206	T	G	13370206	3	3	79	1	0	0	0	0	1	0	0	0	12966	1780	62	4	27	4	RAB28	4	13370206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1968777	13370206	177784070	5110	15427											
RAB28	9364	broad.mit.edu	37	chr4	13371502	13371502	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcacttaatacctgcactActgtactgaacagattctac	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13371502A>G	ENST00000330852.5	-	7	788				RAB28_ENST00000338176.4_Intron|RAB28_ENST00000288723.4_Nonstop_Mutation_p.*221Q	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TACCTGCACTACTGTACTGAA	0.398																																						ENST00000288723.4																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(661-663)Tag>Cag		RAB28, member RAS oncogene family							153	135	141					4																	13371502		2203	4300	6503	SO:0001627	intron_variant	0				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13371502A>G	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.574-1228T>C	4.37:g.13371502A>G						RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	p.*221Q	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN			7	875	-			0					G8JLC5|Q8IYR8|Q8NI05	Nonstop_Mutation	SNP	ENST00000330852.5	37	c.661T>C	CCDS33961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.835416|2.835416	0.50951|0.50951	.|.	.|.	ENSG00000157869|ENSG00000157869	ENST00000511649|ENST00000288723	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	T|.	0.71863|.	0.3390|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71002|.	-0.4718|.	4|.	.|.	.|.	.|.	.|.	15.6647|15.6647	0.77221|0.77221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	A|Q	143|221	.|.	.|.	V|X	-|-	2|1	0|0	RAB28|RAB28	12980600|12980600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.162000|7.162000	0.77515|0.77515	2.185000|2.185000	0.69588|0.69588	0.482000|0.482000	0.46254|0.46254	GTA|TAG		0.398	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		75	297	0	0	0	1	0	75	297					G	13371502	A	G	13371502	1	3	79	0	1	0	0	0	0	0	0	0	12966	404	14	4		4	RAB28	4	13371502	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	13371502	177782774	5111	15428											
BOD1L	259282	broad.mit.edu	37	chr4	13597566	13597566	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctctgaaggcacataAgcctaaaaaatccaaagcac	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13597566A>C	ENST00000040738.5	-	12	8157	c.8022T>G	c.(8020-8022)gcT>gcG	p.A2674A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2674						nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGCACATAAGCCTAAAAAA	0.393																																						ENST00000040738.5																			0											c.(8020-8022)gcT>gcG		biorientation of chromosomes in cell division 1-like 1							125	130	128					4																	13597566		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13597566A>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8022T>G	4.37:g.13597566A>C							p.A2674A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			12	8157	-			2674					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.8022T>G	CCDS3411.2																																																																																				0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		58	587	0	0	0	1	0	58	587					C	13597566	A	C	13597566	2	2	79	1	0	0	0	0	0	0	0	1	1485	59	3	4		4	BOD1L	4	13597566	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	226064	13597566	177556710	5112	15429											
BOD1L	259282	broad.mit.edu	37	chr4	13600913	13600913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaacaggtggcatgtcAtcagcttttatagcaccggt	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13600913A>G	ENST00000040738.5	-	10	7746	c.7611T>C	c.(7609-7611)gaT>gaC	p.D2537D		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2537						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTGGCATGTCATCAGCTTTTA	0.512											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7609-7611)gaT>gaC		biorientation of chromosomes in cell division 1-like 1							73	62	66					4																	13600913		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13600913A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7611T>C	4.37:g.13600913A>G			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.D2537D	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7746	-			2537					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7611T>C	CCDS3411.2																																																																																				0.512	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		22	89	0	0	0	1	0	22	89					G	13600913	A	G	13600913	2	3	79	1	0	0	0	0	0	0	0	1	1485	214	8	4		4	BOD1L	4	13600913	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3347	13600913	177553363	5113	15430											
BOD1L	259282	broad.mit.edu	37	chr4	13601726	13601726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagcactggacactggGccctcacagtcttccaccga	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601726G>A	ENST00000040738.5	-	10	6933	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2266						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGACACTGGGCCCTCACAGT	0.542																																						ENST00000040738.5																			0											c.(6796-6798)ggC>ggT		biorientation of chromosomes in cell division 1-like 1							76	67	70					4																	13601726		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601726G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6798C>T	4.37:g.13601726G>A							p.G2266G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6933	-			2266					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6798C>T	CCDS3411.2																																																																																				0.542	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		31	113	0	0	0	1	0	31	113					A	13601726	G	A	13601726	2	1	79	1	0	0	0	0	0	0	0	1	1485	1190	42	2		2	BOD1L	4	13601726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	813	13601726	177552550	5114	15431											
BOD1L	259282	broad.mit.edu	37	chr4	13601946	13601946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcgcactgggcataGgcccctcaaagtcggcggtg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601946G>A	ENST00000040738.5	-	10	6713	c.6578C>T	c.(6577-6579)cCt>cTt	p.P2193L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2193						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACTGGGCATAGGCCCCTCAAA	0.527																																						ENST00000040738.5																			0											c.(6577-6579)cCt>cTt		biorientation of chromosomes in cell division 1-like 1							75	65	68					4																	13601946		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601946G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6578C>T	4.37:g.13601946G>A	ENSP00000040738:p.Pro2193Leu						p.P2193L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6713	-			2193					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6578C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764525	0.69878	.	.	ENSG00000038219	ENST00000040738	T	0.27402	1.67	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000059	T	0.57814	0.2079	M	0.77313	2.365	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.62599	-0.6820	10	0.87932	D	0	-5.29	16.0157	0.80439	0.0:0.0:1.0:0.0	.	2193	Q8NFC6	BOD1L_HUMAN	L	2193	ENSP00000040738:P2193L	ENSP00000040738:P2193L	P	-	2	0	BOD1L	13211044	1.000000	0.71417	0.993000	0.49108	0.572000	0.35998	5.826000	0.69293	2.461000	0.83175	0.555000	0.69702	CCT		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		48	186	0	0	0	1	0	48	186					A	13601946	G	A	13601946	3	1	79	1	0	0	0	0	1	0	0	0	1485	1000	35	2	2645	2	BOD1L	4	13601946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220	13601946	177552330	5115	15432											
BOD1L	259282	broad.mit.edu	37	chr4	13602068	13602068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactggagataggcaattcGaattcttcccctatgcttgt	9	10	1	1	rs139854434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13602068G>A	ENST00000040738.5	-	10	6591	c.6456C>T	c.(6454-6456)ttC>ttT	p.F2152F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2152						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F2152F(1)									TAGGCAATTCGAATTCTTCCC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0					ENST00000040738.5																			1	Substitution - coding silent(1)	p.F2152F(1)	endometrium(1)								c.(6454-6456)ttC>ttT		biorientation of chromosomes in cell division 1-like 1							86	75	79					4																	13602068		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602068G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6456C>T	4.37:g.13602068G>A							p.F2152F	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6591	-			2152					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6456C>T	CCDS3411.2																																																																																				0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		44	271	0	0	0	1	0	44	271					A	13602068	G	A	13602068	2	1	79	1	0	0	0	0	0	0	0	1	1485	1049	37	1		1	BOD1L	4	13602068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	13602068	177552208	5116	15433											
BOD1L	259282	broad.mit.edu	37	chr4	13604071	13604071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagccacttccagcacTggtgtctacctcactgtttt	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13604071T>G	ENST00000040738.5	-	10	4588	c.4453A>C	c.(4453-4455)Agt>Cgt	p.S1485R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1485						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCCAGCACTGGTGTCTACC	0.438																																						ENST00000040738.5																			0											c.(4453-4455)Agt>Cgt		biorientation of chromosomes in cell division 1-like 1							91	74	80					4																	13604071		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604071T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4453A>C	4.37:g.13604071T>G	ENSP00000040738:p.Ser1485Arg						p.S1485R	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4588	-			1485					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4453A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683646	0.68157	.	.	ENSG00000038219	ENST00000040738	T	0.16457	2.34	5.37	5.37	0.77165	.	0.094439	0.46145	D	0.000305	T	0.30355	0.0762	L	0.34521	1.04	0.43080	D	0.994734	D	0.89917	1.0	D	0.83275	0.996	T	0.02512	-1.1148	10	0.39692	T	0.17	-8.4343	13.9338	0.64012	0.0:0.0:0.0:1.0	.	1485	Q8NFC6	BOD1L_HUMAN	R	1485	ENSP00000040738:S1485R	ENSP00000040738:S1485R	S	-	1	0	BOD1L	13213169	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.896000	0.63222	2.035000	0.60131	0.528000	0.53228	AGT		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		42	143	0	0	0	1	0	42	143					G	13604071	T	G	13604071	3	3	79	1	0	0	0	0	1	0	0	0	1485	1580	55	4	4770	4	BOD1L	4	13604071	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2003	13604071	177550205	5117	15434											
BOD1L	259282	broad.mit.edu	37	chr4	13606557	13606557	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taacaggggtagatgtccgtCttttatgttctctttctaat	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13606557C>A	ENST00000040738.5	-	10	2102	c.1967G>T	c.(1966-1968)aGa>aTa	p.R656I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	656	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AGATGTCCGTCTTTTATGTTC	0.418																																						ENST00000040738.5																			0											c.(1966-1968)aGa>aTa		biorientation of chromosomes in cell division 1-like 1							155	155	155					4																	13606557		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606557C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1967G>T	4.37:g.13606557C>A	ENSP00000040738:p.Arg656Ile						p.R656I	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2102	-			656			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1967G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588531	0.66105	.	.	ENSG00000038219	ENST00000040738	T	0.17854	2.25	5.71	5.71	0.89125	.	0.000000	0.47455	D	0.000232	T	0.29389	0.0732	L	0.29908	0.895	0.46901	D	0.999242	D	0.89917	1.0	D	0.75484	0.986	T	0.01136	-1.1440	10	0.59425	D	0.04	-11.457	13.1019	0.59224	0.0:0.9265:0.0:0.0735	.	656	Q8NFC6	BOD1L_HUMAN	I	656	ENSP00000040738:R656I	ENSP00000040738:R656I	R	-	2	0	BOD1L	13215655	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	3.125000	0.50469	2.694000	0.91930	0.563000	0.77884	AGA		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		30	853	1	0	7.38237e-10	1	7.79401e-10	30	853					A	13606557	C	A	13606557	3	1	79	1	0	0	0	0	1	0	0	0	1485	913	32	3	7256	3	BOD1L	4	13606557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2486	13606557	177547719	5118	15435											
CPEB2	132864	broad.mit.edu	37	chr4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaagaagagagctcagttCaggcactcattgatgcttgt	10	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000507071.1	+	8	1252	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	389	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2500-2502)Cag>Tag		cytoplasmic polyadenylation element binding protein 2							150	151	151					4																	15060083		2203	4300	6503	SO:0001587	stop_gained	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060083C>T	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1165C>T	4.37:g.15060083C>T	ENSP00000424084:p.Gln389*					CPEB2_ENST00000507071.1_Nonsense_Mutation_p.Q389*|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*	p.Q834*	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			9	2500	+			389					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	ENST00000507071.1	37	c.2500C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.145599	0.98092	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.228	19.9533	0.97211	0.0:1.0:0.0:0.0	.	.	.	.	X	834;826;807;389;359;367;362;397;376;42	.	ENSP00000259997:Q397X	Q	+	1	0	CPEB2	14669181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.725000	0.93324	0.585000	0.79938	CAG		0.378	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		51	281	0	0	0	1	0	51	281					T	15060083	C	T	15060083	4	4	79	1	0	0	0	0	0	1	0	0	3810	827	29	2	2543	2	CPEB2	4	15060083	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1453526	15060083	176094193	5119	15436											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagagccaaagatgtTtgtcttgctctatgttacaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000444304.2	+	2	331	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	2					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(25-27)tTt>tGt		C1q and tumor necrosis factor related protein 7							104	98	100					4																	15437372		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15437372T>G	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.5T>G	4.37:g.15437372T>G	ENSP00000388914:p.Phe2Cys					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.F2C|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C	p.F9C	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	285	+			2					B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.26T>G	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219555	0.58560	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91843	-2.92;-2.62;-2.79;-2.56;-2.56	5.54	5.54	0.83059	.	0.356883	0.33092	N	0.005299	D	0.86904	0.6045	N	0.24115	0.695	0.34774	D	0.733995	P	0.46277	0.875	B	0.40602	0.334	D	0.91376	0.5123	10	0.52906	T	0.07	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2	Q9BXJ2	C1QT7_HUMAN	C	9;9;2;2;2	ENSP00000380812:F9C;ENSP00000295297:F9C;ENSP00000371820:F2C;ENSP00000410722:F2C;ENSP00000388914:F2C	ENSP00000295297:F9C	F	+	2	0	C1QTNF7	15046470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.025000	0.64097	2.228000	0.72767	0.533000	0.62120	TTT		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			16	296	0	0	0	1	0	16	296					G	15437372	T	G	15437372	3	3	79	1	0	0	0	0	1	0	0	0	1975	1841	64	4	32	4	C1QTNF7	4	15437372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	377289	15437372	175716904	5120	15437											
CC2D2A	57545	broad.mit.edu	37	chr4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagatagaacattgcttaaGactatcataaaagtttggaa	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000503292.1	+	15	1701	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	507					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATTGCTTAAGACTATCATAA	0.323																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1519-1521)aaG>aaT		coiled-coil and C2 domain containing 2A							58	57	57					4																	15534870		1810	4068	5878	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15534870G>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1521G>T	4.37:g.15534870G>T	ENSP00000421809:p.Lys507Asn					CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.K507N	p.K507N			Q9P2K1	C2D2A_HUMAN			14	1775	+			507					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.1521G>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631078	0.67015	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	D;D;T;D;D	0.84730	-1.88;-1.88;-0.31;-1.88;-1.89	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89871	0.4023	10	0.51188	T	0.08	.	9.6005	0.39601	0.2355:0.0:0.7645:0.0	.	507;458	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	507;507;458;458;507;507;458	ENSP00000403465:K507N;ENSP00000398391:K507N;ENSP00000422875:K507N;ENSP00000421809:K507N;ENSP00000374303:K458N	ENSP00000374303:K458N	K	+	3	2	CC2D2A	15143968	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.636000	0.37144	1.193000	0.43086	0.557000	0.71058	AAG		0.323	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		11	72	1	0	1.08611e-07	1	1.12939e-07	11	72					T	15534870	G	T	15534870	3	4	79	1	0	0	0	0	1	0	0	0	2735	933	33	3	1774	3	CC2D2A	4	15534870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97498	15534870	175619406	5121	15438											
CD38	952	broad.mit.edu	37	chr4	15780058	15780058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaactgcgagttcagCccggtgtccggggacaaacc	13	13	1	0	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	7					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(19-21)agC>agT		CD38 molecule							65	72	69					4																	15780058		2203	4300	6503	SO:0001819	synonymous_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.chr4:15780058C>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.21C>T	4.37:g.15780058C>T							p.S7S	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			1	158	+			7					O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	c.21C>T	CCDS3417.1																																																																																				0.647	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		125	526	0	0	0	1	0	125	526					T	15780058	C	T	15780058	2	4	79	1	0	0	0	0	0	0	0	1	3018	738	26	2		2	CD38	4	15780058	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245188	15780058	175374218	5122	15439											
CD38	952	broad.mit.edu	37	chr4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccataaaagagctggaatCgattataagcaaaaggaata	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	264					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(790-792)tCg>tTg		CD38 molecule							83	91	88					4																	15842113		2203	4300	6503	SO:0001583	missense	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.chr4:15842113C>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.791C>T	4.37:g.15842113C>T	ENSP00000226279:p.Ser264Leu						p.S264L	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			7	928	+			264					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.791C>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554245	0.13374	.	.	ENSG00000004468	ENST00000226279	T	0.14516	2.5	5.16	-4.45	0.03546	NAD(P)-binding domain (1);	1.842590	0.02069	N	0.051380	T	0.09069	0.0224	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.10450	0.005	T	0.22800	-1.0206	10	0.27785	T	0.31	2.133	5.4561	0.16592	0.2315:0.2642:0.0:0.5043	.	264	P28907	CD38_HUMAN	L	264	ENSP00000226279:S264L	ENSP00000226279:S264L	S	+	2	0	CD38	15451211	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.692000	0.00391	-1.538000	0.01734	-0.827000	0.03088	TCG		0.333	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		89	478	0	0	0	1	0	89	478					T	15842113	C	T	15842113	3	4	79	1	0	0	0	0	1	0	0	0	3018	893	31	1	817	1	CD38	4	15842113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62055	15842113	175312163	5123	15440											
FGFBP1	9982	broad.mit.edu	37	chr4	15937605	15937605	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcagagagagctccaAgtctctccacagaactccag	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517																																						ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(649-651)acT>acG		fibroblast growth factor binding protein 1							132	135	134					4																	15937605		2203	4300	6503	SO:0001819	synonymous_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15937605A>C	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.651T>G	4.37:g.15937605A>C						FGFBP1_ENST00000259988.2_Silent_p.T217T	p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	945	-			217			Sufficient for interaction with FGF2 and FGF2-induced effects.		A8K5J2	Silent	SNP	ENST00000382333.1	37	c.651T>G	CCDS3418.1																																																																																				0.517	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		137	638	0	0	0	1	0	137	638					C	15937605	A	C	15937605	2	2	79	1	0	0	0	0	0	0	0	1	5885	59	3	4		4	FGFBP1	4	15937605	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95492	15937605	175216671	5124	15441											
FGFBP2	83888	broad.mit.edu	37	chr4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggcttttcccagctcttCcatcgagtcctttcccagct	6	15	1	0	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	170						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(508-510)Gaa>Aaa		fibroblast growth factor binding protein 2		C	LYS/GLU	0,4406		0,0,2203	159	149	153		508	-2.5	0	4	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FGFBP2	NM_031950.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	170/224	15964245	1,13005	2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964245C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.508G>A	4.37:g.15964245C>T	ENSP00000259989:p.Glu170Lys					FGFBP2_ENST00000509331.1_Intron	p.E170K	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	614	-			170						Missense_Mutation	SNP	ENST00000259989.6	37	c.508G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431820	0.12045	0.0	1.16E-4	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.53	-2.46	0.06461	.	.	.	.	.	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	9	0.02654	T	1	.	7.0495	0.25065	0.0:0.1959:0.0:0.8041	.	170	Q9BYJ0	FGFP2_HUMAN	K	170	ENSP00000259989:E170K	ENSP00000259989:E170K	E	-	1	0	FGFBP2	15573343	0.778000	0.28640	0.001000	0.08648	0.002000	0.02628	0.891000	0.28309	-0.611000	0.05709	-0.302000	0.09304	GAA		0.602	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		56	979	0	0	0	1	0	56	979					T	15964245	C	T	15964245	3	4	79	1	0	0	0	0	1	0	0	0	5886	864	30	2	167	2	FGFBP2	4	15964245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26640	15964245	175190031	5125	15442											
FGFBP2	83888	broad.mit.edu	37	chr4	15964616	15964616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccaagctgctgggaCgcatagtgcaggaatctctc	11	13	1	0	rs368622889		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964616C>T	ENST00000259989.6	-	1	243	c.137G>A	c.(136-138)cGt>cAt	p.R46H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	46						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGGGACGCATAGTGCA	0.597																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(136-138)cGt>cAt		fibroblast growth factor binding protein 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	59	62		137	0.9	0	4		62	0,8600		0,0,4300	no	missense	FGFBP2	NM_031950.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	46/224	15964616	1,13005	2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964616C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.137G>A	4.37:g.15964616C>T	ENSP00000259989:p.Arg46His					FGFBP2_ENST00000509331.1_Intron	p.R46H	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	243	-			46						Missense_Mutation	SNP	ENST00000259989.6	37	c.137G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063603	0.08388	2.27E-4	0.0	ENSG00000137441	ENST00000259989	T	0.15139	2.45	2.72	0.874	0.19124	.	0.431013	0.19984	U	0.101701	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.20767	0.031	T	0.22800	-1.0206	10	0.49607	T	0.09	-4.2113	4.086	0.09947	0.0:0.5639:0.194:0.2421	.	46	Q9BYJ0	FGFP2_HUMAN	H	46	ENSP00000259989:R46H	ENSP00000259989:R46H	R	-	2	0	FGFBP2	15573714	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-1.167000	0.03126	0.125000	0.18397	-0.142000	0.14014	CGT		0.597	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		8	278	0	0	0	1	0	8	278					T	15964616	C	T	15964616	3	4	79	1	0	0	0	0	1	0	0	0	5886	536	19	1	538	1	FGFBP2	4	15964616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	15964616	175189660	5126	15443											
TAPT1	202018	broad.mit.edu	37	chr4	16192999	16192999	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttacctccagcatgttgtaGatgatgtagagcttgatgac	10	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	199					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(595-597)atC>atA		transmembrane anterior posterior transformation 1							55	53	54					4																	16192999		1969	4165	6134	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16192999G>T	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.597C>A	4.37:g.16192999G>T						TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Silent_p.I88I	p.I199I	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			4	680	-			199					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.597C>A	CCDS47030.1																																																																																				0.483	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		13	41	1	0	4.36969e-10	1	4.6211e-10	13	41					T	16192999	G	T	16192999	2	4	79	1	0	0	0	0	0	0	0	1	15606	932	33	3		3	TAPT1	4	16192999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228383	16192999	174961277	5127	15444											
QDPR	5860	broad.mit.edu	37	chr4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctgctcagtgaacgagtCtgtcattttaacaatgatgc	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	58					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTGAACGAGTCTGTCATTTTA	0.512																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(172-174)Gac>Aac		quinoid dihydropteridine reductase	NADH(DB00157)						121	103	109					4																	17510920		2203	4300	6503	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17510920C>T	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.172G>A	4.37:g.17510920C>T	ENSP00000281243:p.Asp58Asn					QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	p.D58N	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			2	351	-			58					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.172G>A	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992680	0.54041	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.95949	-3.46;-3.86;-3.46	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.172007	0.49916	D	0.000135	D	0.93122	0.7810	L	0.45581	1.43	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	D	0.89649	0.3868	10	0.17832	T	0.49	-14.759	19.0666	0.93114	0.0:1.0:0.0:0.0	.	58	P09417	DHPR_HUMAN	N	58	ENSP00000422759:D58N;ENSP00000281243:D58N;ENSP00000426377:D58N	ENSP00000281243:D58N	D	-	1	0	QDPR	17120018	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	6.759000	0.74934	2.585000	0.87301	0.655000	0.94253	GAC		0.512	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		36	169	0	0	0	1	0	36	169					T	17510920	C	T	17510920	3	4	79	1	0	0	0	0	1	0	0	0	12922	913	32	2	586	2	QDPR	4	17510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317921	17510920	173643356	5128	15445											
LAP3	51056	broad.mit.edu	37	chr4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaggcagctggaatcgacGaacaggaaaactggcatgaa	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	110					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(328-330)Gaa>Aaa		leucine aminopeptidase 3							100	94	96					4																	17583965		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17583965G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.328G>A	4.37:g.17583965G>A	ENSP00000226299:p.Glu110Lys					LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	p.E110K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			4	602	+			110					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.328G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385022	0.42308	.	.	ENSG00000002549	ENST00000226299	T	0.44083	0.93	5.65	4.79	0.61399	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.634572	0.18480	N	0.139980	T	0.36524	0.0970	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-6.8573	15.4441	0.75216	0.0:0.39:0.61:0.0	.	110	P28838	AMPL_HUMAN	K	110	ENSP00000226299:E110K	ENSP00000226299:E110K	E	+	1	0	LAP3	17193063	0.985000	0.35326	0.104000	0.21259	0.937000	0.57800	2.303000	0.43646	1.485000	0.48380	0.655000	0.94253	GAA		0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			25	139	0	0	0	1	0	25	139					A	17583965	G	A	17583965	3	1	79	1	0	0	0	0	1	0	0	0	8654	1059	37	1	342	1	LAP3	4	17583965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73045	17583965	173570311	5129	15446											
NCAPG	64151	broad.mit.edu	37	chr4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagatgagactaccaagacGagccaaaaccgcagcactag	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	993					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2977-2979)cGa>cAa		non-SMC condensin I complex, subunit G							98	106	104					4																	17844978		2203	4299	6502	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17844978G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2978G>A	4.37:g.17844978G>A	ENSP00000251496:p.Arg993Gln					LCORL_ENST00000326877.3_3'UTR	p.R993Q	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	21	3154	+			993					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2978G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661373	0.96734	.	.	ENSG00000109805	ENST00000251496	T	0.38560	1.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66073	-0.6014	10	0.72032	D	0.01	-10.9118	20.8794	0.99867	0.0:0.0:1.0:0.0	.	993	Q9BPX3	CND3_HUMAN	Q	993	ENSP00000251496:R993Q	ENSP00000251496:R993Q	R	+	2	0	NCAPG	17454076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	CGA		0.363	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		99	405	0	0	0	1	0	99	405					A	17844978	G	A	17844978	3	1	79	1	0	0	0	0	1	0	0	0	10249	1058	37	1	3060	1	NCAPG	4	17844978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261013	17844978	173309298	5130	15447											
LCORL	254251	broad.mit.edu	37	chr4	17910775	17910775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctaaggggccttcctgCtcttcctgaagggagttttc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000382226.5	-	5	732	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000326877.4_Silent_p.E208E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(622-624)gaG>gaA		ligand dependent nuclear receptor corepressor-like							187	181	183					4																	17910775		2203	4300	6503	SO:0001819	synonymous_variant	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17910775C>T		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.624G>A	4.37:g.17910775C>T						LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000326877.3_Silent_p.E208E	p.E208E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			5	732	-			208					Q96NK1	Silent	SNP	ENST00000382226.5	37	c.624G>A	CCDS54749.1																																																																																				0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		96	438	0	0	0	1	0	96	438					T	17910775	C	T	17910775	2	4	79	1	0	0	0	0	0	0	0	1	8721	796	28	2		2	LCORL	4	17910775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65797	17910775	173243501	5131	15448											
LCORL	254251	broad.mit.edu	37	chr4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagatgatagctcctctGttggtgttgactgtgaagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000382226.5	-	4	449	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000326877.4_Missense_Mutation_p.T114I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	114					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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(340-342)aCa>aTa		ligand dependent nuclear receptor corepressor-like							114	106	109					4																	17963615		2202	4300	6502	SO:0001583	missense	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17963615G>A		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.341C>T	4.37:g.17963615G>A	ENSP00000371661:p.Thr114Ile					LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000326877.3_Missense_Mutation_p.T114I	p.T114I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			4	449	-			114					Q96NK1	Missense_Mutation	SNP	ENST00000382226.5	37	c.341C>T	CCDS54749.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528768	0.85706	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.89	5.89	0.94794	.	0.160650	0.56097	D	0.000028	T	0.74642	0.3743	L	0.40543	1.245	0.51767	D	0.999936	D;D	0.76494	0.997;0.999	D;D	0.85130	0.991;0.997	T	0.74377	-0.3685	9	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	27;114	B4DSW0;Q8N3X6-3	.;.	I	114;27;30;114	.	ENSP00000317566:T114I	T	-	2	0	LCORL	17572713	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.159000	0.77483	2.793000	0.96121	0.655000	0.94253	ACA		0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		40	208	0	0	0	1	0	40	208					A	17963615	G	A	17963615	3	1	79	1	0	0	0	0	1	0	0	0	8721	1377	48	2	1668	2	LCORL	4	17963615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52840	17963615	173190661	5132	15449											
SLIT2	9353	broad.mit.edu	37	chr4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtacttgcttggatacaGtcgtccgatgtagcaacaag	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	737	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTGGATACAGTCGTCCGATG	0.413																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2209-2211)Gtc>Ttc		slit homolog 2 (Drosophila)							318	296	303					4																	20544182		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544182G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2209G>T	4.37:g.20544182G>T	ENSP00000422591:p.Val737Phe					SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F	p.V737F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			21	2461	+			737			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2209G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783288	0.70222	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.87578	0.431;0.998	T	0.47736	-0.9094	10	0.72032	D	0.01	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	729;737	O94813-3;O94813	.;SLIT2_HUMAN	F	729;737;741;733;733	ENSP00000427548:V729F;ENSP00000422591:V737F;ENSP00000273739:V741F;ENSP00000422261:V733F	ENSP00000273739:V741F	V	+	1	0	SLIT2	20153280	1.000000	0.71417	0.213000	0.23690	0.243000	0.25628	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	GTC		0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			259	1091	1	0	6.08379e-84	1	7.79258e-84	259	1091					T	20544182	G	T	20544182	3	4	79	1	0	0	0	0	1	0	0	0	14790	1029	36	3	2291	3	SLIT2	4	20544182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2580567	20544182	170610094	5133	15450											
SLIT2	9353	broad.mit.edu	37	chr4	20550138	20550138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaacaacagaataagcacGctttctaatcagagcttcag	7	9	3	2	rs375099406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000273739.5_Silent_p.T795T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	791					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATAAGCACGCTTTCTAATC	0.368																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2371-2373)acG>acA		slit homolog 2 (Drosophila)							98	94	95					4																	20550138		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20550138G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2373G>A	4.37:g.20550138G>A						SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000503823.1_Silent_p.T783T	p.T791T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			23	2625	+			791					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2373G>A	CCDS3426.1																																																																																				0.368	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			43	187	0	0	0	1	0	43	187					A	20550138	G	A	20550138	2	1	79	1	0	0	0	0	0	0	0	1	14790	1074	38	1		1	SLIT2	4	20550138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5956	20550138	170604138	5134	15451											
SLIT2	9353	broad.mit.edu	37	chr4	20555519	20555519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaggagcctggaattgctCgttgtgctggtcctggagaa	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20555519C>T	ENST00000504154.1	+	26	2905	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	885	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAATTGCTCGTTGTGCTGG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2653-2655)Cgt>Tgt		slit homolog 2 (Drosophila)							139	131	134					4																	20555519		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555519C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2653C>T	4.37:g.20555519C>T	ENSP00000422591:p.Arg885Cys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C	p.R885C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			26	2905	+			885			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2653C>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966759|3.966759	0.74131|0.74131	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;T;T;D|.	0.90324|.	-1.5;-1.51;-1.42;-1.49;-2.65|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84575|0.84575	0.5502|0.5502	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	D|D	0.87960|0.87960	0.2729|0.2729	10|5	0.62326|.	D|.	0.03|.	.|.	14.1363|14.1363	0.65289|0.65289	0.1501:0.8499:0.0:0.0|0.1501:0.8499:0.0:0.0	.|.	877;885|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|L	877;885;889;881;881;86|15	ENSP00000427548:R877C;ENSP00000422591:R885C;ENSP00000273739:R889C;ENSP00000422261:R881C;ENSP00000421975:R86C|.	ENSP00000273739:R889C|.	R|S	+|+	1|2	0|0	SLIT2|SLIT2	20164617|20164617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	5.890000|5.890000	0.69774|0.69774	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	CGT|TCG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			10	545	0	0	0	1	0	10	545					T	20555519	C	T	20555519	3	4	79	1	0	0	0	0	1	0	0	0	14790	884	31	1	2755	1	SLIT2	4	20555519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5381	20555519	170598757	5135	15452											
SLIT2	9353	broad.mit.edu	37	chr4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgaattaattttcaggtcCtgtggatgtcaatattctag	8	5	3	1	rs368566618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	910					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTCAGGTCCTGTGGATGTC	0.333																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2728-2730)cCt>cAt		slit homolog 2 (Drosophila)							181	183	182					4																	20568888		2203	4299	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20568888C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2729C>A	4.37:g.20568888C>A	ENSP00000422591:p.Pro910His					SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H	p.P910H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			27	2981	+			910					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2729C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418949	0.83559	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;T;D;D	0.88975	-1.54;-1.56;-1.47;-1.53;-2.45	5.67	5.67	0.87782	.	0.101407	0.64402	D	0.000002	D	0.93562	0.7945	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.63381	0.914;0.823	D	0.90823	0.4710	10	0.17369	T	0.5	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	902;910	O94813-3;O94813	.;SLIT2_HUMAN	H	902;910;914;906;906;122	ENSP00000427548:P902H;ENSP00000422591:P910H;ENSP00000273739:P914H;ENSP00000422261:P906H;ENSP00000421975:P122H	ENSP00000273739:P914H	P	+	2	0	SLIT2	20177986	1.000000	0.71417	0.985000	0.45067	0.745000	0.42441	6.071000	0.71229	2.659000	0.90383	0.655000	0.94253	CCT		0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			151	659	1	0	1.87815e-66	1	2.37702e-66	151	659					A	20568888	C	A	20568888	3	1	79	1	0	0	0	0	1	0	0	0	14790	681	24	3	2835	3	SLIT2	4	20568888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13369	20568888	170585388	5136	15453											
SLIT2	9353	broad.mit.edu	37	chr4	20597397	20597397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacaacaagtgtaaaaAcggagcccactgcacagatg	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20597397A>G	ENST00000504154.1	+	31	3512	c.3260A>G	c.(3259-3261)aAc>aGc	p.N1087S	SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1087	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N1087T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGTGTAAAAACGGAGCCCAC	0.468																																						ENST00000504154.1																			1	Substitution - Missense(1)	p.N1087T(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3259-3261)aAc>aGc		slit homolog 2 (Drosophila)							187	173	178					4																	20597397		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597397A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3260A>G	4.37:g.20597397A>G	ENSP00000422591:p.Asn1087Ser					SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S	p.N1087S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3512	+			1087			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3260A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532906	0.64972	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.039534	0.85682	D	0.000000	D	0.96315	0.8798	M	0.85197	2.74	0.80722	D	1	P;P	0.40534	0.582;0.72	B;P	0.47941	0.17;0.562	D	0.96586	0.9434	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1079;1087	O94813-3;O94813	.;SLIT2_HUMAN	S	1079;1087;1100;1083;1083	ENSP00000427548:N1079S;ENSP00000422591:N1087S;ENSP00000273739:N1100S;ENSP00000422261:N1083S	ENSP00000273739:N1100S	N	+	2	0	SLIT2	20206495	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.048000	0.76606	2.371000	0.80710	0.533000	0.62120	AAC		0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			10	663	0	0	0	1	0	10	663					G	20597397	A	G	20597397	3	3	79	1	0	0	0	0	1	0	0	0	14790	43	2	4	3382	4	SLIT2	4	20597397	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28509	20597397	170556879	5137	15454											
SLIT2	9353	broad.mit.edu	37	chr4	20599956	20599956	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccatatcgcggtagaactCtatcgggggcgtgttcgtgc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000273739.5_Silent_p.L1223L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1210	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGTAGAACTCTATCGGGGGC	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3628-3630)ctC>ctA		slit homolog 2 (Drosophila)							162	147	152					4																	20599956		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599956C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3630C>A	4.37:g.20599956C>A						SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503823.1_Silent_p.L1202L	p.L1210L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			33	3882	+			1210			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3630C>A	CCDS3426.1																																																																																				0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			126	496	1	0	1.81975e-59	1	2.28519e-59	126	496					A	20599956	C	A	20599956	2	1	79	1	0	0	0	0	0	0	0	1	14790	900	32	3		3	SLIT2	4	20599956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	20599956	170554320	5138	15455											
PACRGL	133015	broad.mit.edu	37	chr4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcaaccagttctccagAgtctgcaagaaaacttcatc	6	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000503585.1	+	3	537	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	49										endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(145-147)gAg>gCg		PARK2 co-regulated-like							139	129	133					4																	20706376		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20706376A>C	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.146A>C	4.37:g.20706376A>C	ENSP00000423881:p.Glu49Ala					PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000503585.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A	p.E49A	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			3	537	+			49					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.146A>C	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670657	0.67814	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	3.07	0.35406	.	0.389405	0.26923	N	0.021802	T	0.29223	0.0727	L	0.54323	1.7	0.29518	N	0.853726	D;P;P;B;B;P	0.54601	0.967;0.605;0.799;0.264;0.104;0.675	P;B;B;B;B;B	0.45971	0.499;0.204;0.272;0.124;0.058;0.298	T	0.12889	-1.0530	9	0.10111	T	0.7	-6.607	4.8074	0.13326	0.7167:0.0:0.1419:0.1414	.	49;49;97;49;49;49	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	97;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49	.	ENSP00000295290:E49A	E	+	2	0	PACRGL	20315474	0.985000	0.35326	0.766000	0.31476	0.978000	0.69477	2.811000	0.47986	1.006000	0.39211	0.533000	0.62120	GAG		0.383	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		87	417	0	0	0	1	0	87	417					C	20706376	A	C	20706376	3	2	79	1	0	0	0	0	1	0	0	0	11413	304	11	4	152	4	PACRGL	4	20706376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106420	20706376	170447900	5139	15456											
KCNIP4	80333	broad.mit.edu	37	chr4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtggtctgtatcaaatGcattgaacagaaaatgtgca	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382152.2	-	5	559	c.392C>T	c.(391-393)gCa>gTa	p.A131V	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.A106V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|PACRGL_ENST00000507634.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	131	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(316-318)gCa>gTa		Kv channel interacting protein 4							117	107	111					4																	20751322		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751322G>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.392C>T	4.37:g.20751322G>A	ENSP00000371587:p.Ala131Val					KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000382149.4_5'UTR|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382152.2_Missense_Mutation_p.A131V	p.A106V	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			4	653	-		Breast(46;0.134)	131			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.317C>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409805	0.83340	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.21097	0.63	0.80722	D	1	D;D;D;D	0.65815	0.973;0.987;0.987;0.995	P;P;P;P	0.60886	0.741;0.88;0.88;0.842	T	0.01345	-1.1379	10	0.06236	T	0.91	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	106;110;114;131	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	106;97;110;69;131;69;69	ENSP00000371583:A106V;ENSP00000399080:A97V;ENSP00000371585:A110V;ENSP00000371587:A131V;ENSP00000423257:A69V;ENSP00000351892:A69V	ENSP00000351892:A69V	A	-	2	0	KCNIP4	20360420	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	9.379000	0.97198	2.623000	0.88846	0.585000	0.79938	GCA		0.353	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		36	156	0	0	0	1	0	36	156					A	20751322	G	A	20751322	3	1	79	1	0	0	0	0	1	0	0	0	8072	1319	46	2	380	2	KCNIP4	4	20751322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44946	20751322	170402954	5140	15457											
KCNIP4	80333	broad.mit.edu	37	chr4	20852254	20852254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggcttcaggccgatgcCtgacggtggccatctccagt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20852254C>A	ENST00000382152.2	-	3	367	c.200G>T	c.(199-201)aGg>aTg	p.R67M	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R42M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	67	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGGCCGATGCCTGACGGTGGC	0.483																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(124-126)aGg>aTg		Kv channel interacting protein 4							69	68	68					4																	20852254		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852254C>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.200G>T	4.37:g.20852254C>A	ENSP00000371587:p.Arg67Met					KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.R67M	p.R42M	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			2	461	-		Breast(46;0.134)	67			KIS (By similarity).		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.125G>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181768	0.94885	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73152	-0.72;1.96;-0.72;1.96;-0.69;-0.69	5.42	5.42	0.78866	.	0.205201	0.51477	D	0.000081	T	0.81034	0.4739	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.62365	0.981;0.991;0.991;0.991	P;P;P;P	0.50590	0.591;0.645;0.551;0.645	D	0.84538	0.0637	10	0.72032	D	0.01	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	42;46;50;67	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	M	42;33;46;5;67;5;5	ENSP00000371583:R42M;ENSP00000399080:R33M;ENSP00000371585:R46M;ENSP00000371587:R67M;ENSP00000423257:R5M;ENSP00000351892:R5M	ENSP00000351892:R5M	R	-	2	0	KCNIP4	20461352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	AGG		0.483	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		12	278	1	0	1.08611e-07	1	1.12939e-07	12	278					A	20852254	C	A	20852254	3	1	79	1	0	0	0	0	1	0	0	0	8072	681	24	3	580	3	KCNIP4	4	20852254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100932	20852254	170302022	5141	15458											
GPR125	166647	broad.mit.edu	37	chr4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagaaacagccaaagccCcaaacatccacagtgcaaca	5	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1013					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCAAAGCCCCAAACATCCA	0.443																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3037-3039)gGg>gTg		G protein-coupled receptor 125							102	103	103					4																	22390256		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390256C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3038G>T	4.37:g.22390256C>A	ENSP00000334952:p.Gly1013Val					GPR125_ENST00000282943.5_5'UTR	p.G1013V	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3307	-		Breast(46;0.198)	1013					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3038G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404043	0.62288	.	.	ENSG00000152990	ENST00000334304	T	0.65732	-0.17	5.94	5.94	0.96194	GPCR, family 2-like (1);	0.098598	0.64402	D	0.000001	T	0.77916	0.4202	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75484	0.986;0.852	T	0.76049	-0.3101	10	0.51188	T	0.08	-29.7383	20.3501	0.98811	0.0:1.0:0.0:0.0	.	870;1013	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1013	ENSP00000334952:G1013V	ENSP00000334952:G1013V	G	-	2	0	GPR125	21999354	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.597000	0.61062	2.807000	0.96579	0.650000	0.86243	GGG		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			55	262	1	0	1.4374e-25	1	1.6504e-25	55	262					A	22390256	C	A	22390256	3	1	79	1	0	0	0	0	1	0	0	0	6668	623	22	3	931	3	GPR125	4	22390256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538002	22390256	168764020	5142	15459											
GPR125	166647	broad.mit.edu	37	chr4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacattgaatcctgatgatTtatttcgccattttcattgg	7	7	1	4	rs535821659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCTGATGATTTATTTCGCCA	0.433																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2911-2913)Aat>Cat		G protein-coupled receptor 125							97	96	96					4																	22390383		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390383T>G	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2911A>C	4.37:g.22390383T>G	ENSP00000334952:p.Asn971His					GPR125_ENST00000282943.5_5'UTR	p.N971H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3180	-		Breast(46;0.198)	971					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2911A>C	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607184	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.84	0.449	0.16619	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.27731	0.0682	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.003;0.047	B;B	0.19391	0.005;0.025	T	0.13818	-1.0495	10	0.41790	T	0.15	-1.4819	5.9665	0.19328	0.0:0.1913:0.2328:0.5759	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	971	ENSP00000334952:N971H	ENSP00000334952:N971H	N	-	1	0	GPR125	21999481	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.505000	0.22642	-0.118000	0.11851	0.528000	0.53228	AAT		0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			100	425	0	0	0	1	0	100	425					G	22390383	T	G	22390383	3	3	79	1	0	0	0	0	1	0	0	0	6668	1841	64	4	1058	4	GPR125	4	22390383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127	22390383	168763893	5143	15460											
GPR125	166647	broad.mit.edu	37	chr4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatactcactagggtgCgtttggccgactgccgtaat	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	906					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.A906T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.A906T(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2716-2718)Gca>Aca		G protein-coupled receptor 125							199	211	207					4																	22390718		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390718C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2716G>A	4.37:g.22390718C>T	ENSP00000334952:p.Ala906Thr					GPR125_ENST00000282943.5_5'UTR	p.A906T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2985	-		Breast(46;0.198)	906					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2716G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850785	0.71719	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.39245	1.2	0.80722	D	1	B;D	0.56746	0.213;0.977	B;P	0.46110	0.064;0.504	T	0.36504	-0.9745	10	0.26408	T	0.33	-13.3325	15.7232	0.77732	0.1373:0.8627:0.0:0.0	.	763;906	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	906	ENSP00000334952:A906T	ENSP00000334952:A906T	A	-	1	0	GPR125	21999816	0.997000	0.39634	0.889000	0.34880	0.972000	0.66771	3.633000	0.54295	2.755000	0.94549	0.655000	0.94253	GCA		0.408	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			106	1087	0	0	0	1	0	106	1087					T	22390718	C	T	22390718	3	4	79	1	0	0	0	0	1	0	0	0	6668	768	27	1	1257	1	GPR125	4	22390718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	22390718	168763558	5144	15461											
GPR125	166647	broad.mit.edu	37	chr4	22414813	22414813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgccataccattaaaaCtgcatagttactaagggagt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414813C>T	ENST00000334304.5	-	14	2493	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	742	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCATTAAAACTGCATAGTTA	0.353																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2224-2226)Gtt>Att		G protein-coupled receptor 125							173	172	172					4																	22414813		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414813C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2224G>A	4.37:g.22414813C>T	ENSP00000334952:p.Val742Ile					GPR125_ENST00000282943.5_5'UTR	p.V742I	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2493	-		Breast(46;0.198)	742			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2224G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258243	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69435	-0.4	5.49	5.49	0.81192	GPS domain (3);	0.130085	0.52532	D	0.000075	T	0.70124	0.3188	L	0.41492	1.28	0.80722	D	1	P;D	0.57899	0.686;0.981	B;P	0.54499	0.28;0.754	T	0.64782	-0.6326	10	0.22109	T	0.4	-30.6269	19.3671	0.94468	0.0:1.0:0.0:0.0	.	599;742	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	742	ENSP00000334952:V742I	ENSP00000334952:V742I	V	-	1	0	GPR125	22023911	0.971000	0.33674	0.850000	0.33497	0.712000	0.41017	2.219000	0.42899	2.555000	0.86185	0.650000	0.86243	GTT		0.353	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			21	863	0	0	0	1	0	21	863					T	22414813	C	T	22414813	3	4	79	1	0	0	0	0	1	0	0	0	6668	565	20	2	1765	2	GPR125	4	22414813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24095	22414813	168739463	5145	15462											
GPR125	166647	broad.mit.edu	37	chr4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccatgtgcaattcgaCgcagtgtcacattaacaggg	10	11	1	0	rs201944807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	691					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAATTCGACGCAGTGTCAC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0					ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2071-2073)cGt>cAt		G protein-coupled receptor 125		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	109	105	106		2072	5.9	1	4		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	GPR125	NM_145290.2	29	0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461	probably-damaging	691/1322	22414965	6,13000	2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414965C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2072G>A	4.37:g.22414965C>T	ENSP00000334952:p.Arg691His					GPR125_ENST00000282943.5_5'UTR	p.R691H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2341	-		Breast(46;0.198)	691					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2072G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434147	0.96150	6.81E-4	3.49E-4	ENSG00000152990	ENST00000334304	T	0.58060	0.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75733	-0.3214	10	0.72032	D	0.01	-35.5869	20.1991	0.98252	0.0:1.0:0.0:0.0	.	548;691	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	691	ENSP00000334952:R691H	ENSP00000334952:R691H	R	-	2	0	GPR125	22024063	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	5.592000	0.67543	2.775000	0.95449	0.650000	0.86243	CGT		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			90	453	0	0	0	1	0	90	453					T	22414965	C	T	22414965	3	4	79	1	0	0	0	0	1	0	0	0	6668	536	19	1	1917	1	GPR125	4	22414965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	22414965	168739311	5146	15463											
GPR125	166647	broad.mit.edu	37	chr4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttaaagctcagctgcttatCcaggtttccctctggatccc	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGCTTATCCAGGTTTCCC	0.448																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1750-1752)Gat>Tat		G protein-coupled receptor 125							213	218	216					4																	22422568		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422568C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1750G>T	4.37:g.22422568C>A	ENSP00000334952:p.Asp584Tyr					GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y	p.D584Y	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			12	2019	-		Breast(46;0.198)	584					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1750G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070604	0.76301	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.65364	0.42;-0.15	5.1	5.1	0.69264	.	0.106348	0.64402	D	0.000006	T	0.77519	0.4142	M	0.61703	1.905	0.80722	D	1	B;D;D;P	0.76494	0.063;0.999;0.997;0.769	B;D;D;B	0.71414	0.05;0.973;0.923;0.384	T	0.79820	-0.1642	10	0.87932	D	0	-33.5045	18.8818	0.92358	0.0:1.0:0.0:0.0	.	459;584;358;584	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Y	584;358;584	ENSP00000334952:D584Y;ENSP00000421006:D584Y	ENSP00000334952:D584Y	D	-	1	0	GPR125	22031666	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.591000	0.74090	2.515000	0.84797	0.655000	0.94253	GAT		0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			38	1183	1	0	1.30897e-18	1	1.45408e-18	38	1183					A	22422568	C	A	22422568	3	1	79	1	0	0	0	0	1	0	0	0	6668	855	30	3	2247	3	GPR125	4	22422568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7603	22422568	168731708	5147	15464											
GPR125	166647	broad.mit.edu	37	chr4	22425825	22425825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacttactgttgaataaaCgtgagctccaccggctagcc	8	12	0	2	rs564893051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22425825C>T	ENST00000334304.5	-	11	1863	c.1594G>A	c.(1594-1596)Gtt>Att	p.V532I	GPR125_ENST00000502482.1_Missense_Mutation_p.V532I|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.V306I	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	532					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTTGAATAAACGTGAGCTCCA	0.483																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1594-1596)Gtt>Att		G protein-coupled receptor 125							55	51	52					4																	22425825		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22425825C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1594G>A	4.37:g.22425825C>T	ENSP00000334952:p.Val532Ile					GPR125_ENST00000508133.1_Missense_Mutation_p.V306I|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.V532I	p.V532I	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			11	1863	-		Breast(46;0.198)	532					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1594G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077921	0.55753	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56444	0.66;0.46	5.52	5.52	0.82312	.	0.114155	0.64402	D	0.000014	T	0.46737	0.1408	L	0.36672	1.1	0.48830	D	0.999713	P;P;D;D	0.58970	0.589;0.608;0.973;0.984	B;B;B;B	0.43301	0.105;0.18;0.415;0.178	T	0.33650	-0.9860	10	0.20046	T	0.44	-14.6578	19.4319	0.94775	0.0:1.0:0.0:0.0	.	407;532;306;532	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	I	532;306;532	ENSP00000334952:V532I;ENSP00000421006:V532I	ENSP00000334952:V532I	V	-	1	0	GPR125	22034923	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	5.220000	0.65267	2.599000	0.87857	0.561000	0.74099	GTT		0.483	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	196	0	0	0	1	0	5	196					T	22425825	C	T	22425825	3	4	79	1	0	0	0	0	1	0	0	0	6668	536	19	1	2407	1	GPR125	4	22425825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3257	22425825	168728451	5148	15465											
GBA3	57733	broad.mit.edu	37	chr4	22737808	22737808	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgttacctgatgggaCgacaggtttcatcaaccaga	10	10	3	2	rs529839966		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000503442.1	+	0	354				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.T88K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGATGGGACGACAGGTTTC	0.413																																						ENST00000511446.1																			1	Substitution - Missense(1)	p.T88K(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							132	131	131					4																	22737808		1880	4112	5992			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737808C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737808C>T						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	266	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			126	534	0	0	0	1	0	126	534					T	22737808	C	T	22737808	1	4	79	0	1	0	0	0	0	0	0	0	6296	536	19	1		1	GBA3	4	22737808	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311983	22737808	168416468	5149	15466											
GBA3	57733	broad.mit.edu	37	chr4	22749357	22749357	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgtctgaccaggaagCtgctaaaagagccatcactt	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAGGAAGCTGCTAAAAGA	0.428																																						ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							133	131	131					4																	22749357		1902	4118	6020			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749357C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749357C>A						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	728	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			118	523	1	0	1.47488e-52	1	1.83463e-52	118	523					A	22749357	C	A	22749357	1	1	79	0	1	0	0	0	0	0	0	0	6296	797	28	3		3	GBA3	4	22749357	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11549	22749357	168404919	5150	15467											
GBA3	57733	broad.mit.edu	37	chr4	22820391	22820391	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtatattgtgcatggtctCttctggataactttgagtgg	11	5	2	1	rs186578587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000503442.1	+	0	425				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCATGGTCTCTTCTGGATAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18964	0.001		0.0	False		,,,				2504	0.0					ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							83	74	77					4																	22820391		1869	4100	5969			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820391C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820391C>T						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	1258	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			6	142	0	0	0	1	0	6	142					T	22820391	C	T	22820391	1	4	79	0	1	0	0	0	0	0	0	0	6296	913	32	2		2	GBA3	4	22820391	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71034	22820391	168333885	5151	15468											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatatggtgatcgggaacacGacctgtgtcgagaaaaggac	13	7	0	2	rs17847360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1729-1731)tCg>tTg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		G	LEU/SER	0,4406		0,0,2203	83	83	83		1730	6.2	1	4	dbSNP_123	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPARGC1A	NM_013261.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	577/799	23815376	2,13004	2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815376G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1730C>T	4.37:g.23815376G>A	ENSP00000264867:p.Ser577Leu					PPARGC1A_ENST00000509702.1_5'UTR	p.S577L	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1849	-		Breast(46;0.0503)	577			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1730C>T	CCDS3429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.23	3.786916	0.70337	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.48201	0.82	6.16	6.16	0.99307	.	0.110926	0.64402	D	0.000005	T	0.72078	0.3416	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.69045	-0.5249	10	0.42905	T	0.14	-3.6221	20.8598	0.99761	0.0:0.0:1.0:0.0	rs17847360	577	Q9UBK2	PRGC1_HUMAN	L	577	ENSP00000264867:S577L	ENSP00000264867:S577L	S	-	2	0	PPARGC1A	23424474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCG		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		74	255	0	0	0	1	0	74	255					A	23815376	G	A	23815376	3	1	79	1	0	0	0	0	1	0	0	0	12342	1059	37	1	690	1	PPARGC1A	4	23815376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994985	23815376	167338900	5152	15469											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacattgaacaatgaataggAttgcgtgccatcccaagggt	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	530	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1588-1590)Tcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							146	139	142					4																	23815518		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815518A>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1588T>A	4.37:g.23815518A>T	ENSP00000264867:p.Ser530Thr					PPARGC1A_ENST00000509702.1_5'UTR	p.S530T	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1707	-		Breast(46;0.0503)	530					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1588T>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618834	0.28801	.	.	ENSG00000109819	ENST00000264867	T	0.22539	1.95	6.16	3.67	0.42095	.	0.316917	0.38272	N	0.001760	T	0.15262	0.0368	L	0.55481	1.735	0.80722	D	1	P	0.39782	0.688	B	0.33750	0.169	T	0.08806	-1.0704	10	0.15066	T	0.55	-0.2608	7.3919	0.26915	0.712:0.1518:0.1362:0.0	.	530	Q9UBK2	PRGC1_HUMAN	T	530	ENSP00000264867:S530T	ENSP00000264867:S530T	S	-	1	0	PPARGC1A	23424616	0.469000	0.25846	0.716000	0.30569	0.992000	0.81027	0.998000	0.29744	0.532000	0.28657	0.528000	0.53228	TCC		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		107	511	0	0	0	1	0	107	511					T	23815518	A	T	23815518	3	4	79	1	0	0	0	0	1	0	0	0	12342	333	12	5	832	5	PPARGC1A	4	23815518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	23815518	167338758	5153	15470											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833186	23833186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggttcttactagagaCggctcttctgcctcctgggg	14	10	3	1	rs369519960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	141					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(421-423)ccG>ccA		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		C		0,4406		0,0,2203	167	145	153		423	2.8	1	4		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPARGC1A	NM_013261.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/799	23833186	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833186C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.423G>A	4.37:g.23833186C>T						PPARGC1A_ENST00000509702.1_5'UTR	p.P141P	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	542	-		Breast(46;0.0503)	141					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.423G>A	CCDS3429.1																																																																																				0.517	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		122	513	0	0	0	1	0	122	513					T	23833186	C	T	23833186	2	4	79	1	0	0	0	0	0	0	0	1	12342	523	19	1		1	PPARGC1A	4	23833186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17668	23833186	167321090	5154	15471											
DHX15	1665	broad.mit.edu	37	chr4	24538792	24538792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcgaacaaaacactgTgggactaaacaaggttggta	14	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAACACTGTGGGACTAAAC	0.507																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1789-1791)ccA>ccG		DEAH (Asp-Glu-Ala-His) box helicase 15							110	93	99					4																	24538792		2203	4300	6503	SO:0001819	synonymous_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24538792T>C	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1791A>G	4.37:g.24538792T>C						DHX15_ENST00000508032.1_5'UTR	p.P597P	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			11	1947	-		Breast(46;0.0503)	597					Q9NQT7	Silent	SNP	ENST00000336812.4	37	c.1791A>G	CCDS33966.1																																																																																				0.507	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		28	103	0	0	0	1	0	28	103					C	24538792	T	C	24538792	2	2	79	1	0	0	0	0	0	0	0	1	4517	1683	59	4		4	DHX15	4	24538792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705606	24538792	166615484	5155	15472											
DHX15	1665	broad.mit.edu	37	chr4	24543646	24543646	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattcgaggattgtagacCtattggaattgaaataacac	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1		DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATTGTAGACCTATTGGAATT	0.408																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.e8-1		DEAH (Asp-Glu-Ala-His) box helicase 15							70	70	70					4																	24543646		2203	4300	6503	SO:0001630	splice_region_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24543646C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1336-1G>A	4.37:g.24543646C>T								NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			8	1492	-		Breast(46;0.0503)						Q9NQT7	Splice_Site	SNP	ENST00000336812.4	37		CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX15	24152744	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	.		0.408	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	Intron	40	199	0	0	0	1	0	40	199					T	24543646	C	T	24543646	5	4	79	1	0	0	0	0	0	0	1	0	4517	695	24	2	1080	2	DHX15	4	24543646	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4854	24543646	166610630	5156	15473											
DHX15	1665	broad.mit.edu	37	chr4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttctttctccctctctCgctctctatctcctctatca	1	18	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	51					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccctctcTCGCTCTCTATC	0.448																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(151-153)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 15							178	155	163					4																	24578221		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578221C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.152G>A	4.37:g.24578221C>T	ENSP00000336741:p.Arg51Gln						p.R51Q	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	308	-		Breast(46;0.0503)	51					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.152G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507978	0.85282	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.62232	0.04	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.30357	-0.9981	10	0.37606	T	0.19	-21.7171	14.6448	0.68754	0.0:0.9286:0.0:0.0714	.	51	O43143	DHX15_HUMAN	Q	51;40	ENSP00000336741:R51Q	ENSP00000336741:R51Q	R	-	2	0	DHX15	24187319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.652000	0.90054	0.655000	0.94253	CGA		0.448	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		63	228	0	0	0	1	0	63	228					T	24578221	C	T	24578221	3	4	79	1	0	0	0	0	1	0	0	0	4517	884	31	1	2287	1	DHX15	4	24578221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34575	24578221	166576055	5157	15474											
ZCCHC4	29063	broad.mit.edu	37	chr4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctactgaagaagggtAcaggtaagatcacagtggaa	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	377							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAGAAGGGTACAGGTAAGAT	0.383																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1129-1131)tAc>tGc		zinc finger, CCHC domain containing 4							55	50	52					4																	25363599		1863	4104	5967	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363599A>G	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1130A>G	4.37:g.25363599A>G	ENSP00000303468:p.Tyr377Cys						p.Y377C	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			9	1154	+		Breast(46;0.0503)	377					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1130A>G	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210568	0.79240	.	.	ENSG00000168228	ENST00000302874	T	0.36520	1.25	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67612	-0.5626	10	0.87932	D	0	-9.4566	15.0981	0.72250	1.0:0.0:0.0:0.0	.	377	Q9H5U6	ZCHC4_HUMAN	C	377	ENSP00000303468:Y377C	ENSP00000303468:Y377C	Y	+	2	0	ZCCHC4	24972697	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.266000	0.75297	0.533000	0.62120	TAC		0.383	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	131	0	0	0	1	0	7	131					G	25363599	A	G	25363599	3	3	79	1	0	0	0	0	1	0	0	0	17643	391	14	4	1164	4	ZCCHC4	4	25363599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	785378	25363599	165790677	5158	15475											
ZCCHC4	29063	broad.mit.edu	37	chr4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaagaaaaggagggAaagagcccatcaatatcttg	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	505							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1513-1515)gAa>gGa		zinc finger, CCHC domain containing 4							106	98	101					4																	25370758		1856	4120	5976	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25370758A>G	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1514A>G	4.37:g.25370758A>G	ENSP00000303468:p.Glu505Gly						p.E505G	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			13	1538	+		Breast(46;0.0503)	505					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1514A>G	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593813	0.46214	.	.	ENSG00000168228	ENST00000302874	T	0.32272	1.46	5.81	3.39	0.38822	.	1.110990	0.06650	N	0.762600	T	0.23330	0.0564	N	0.22421	0.69	0.23144	N	0.998221	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	10	0.59425	D	0.04	3.3457	8.192	0.31374	0.8395:0.0:0.1605:0.0	.	505	Q9H5U6	ZCHC4_HUMAN	G	505	ENSP00000303468:E505G	ENSP00000303468:E505G	E	+	2	0	ZCCHC4	24979856	0.998000	0.40836	0.963000	0.40424	0.930000	0.56654	2.267000	0.43329	1.043000	0.40175	0.482000	0.46254	GAA		0.388	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			86	302	0	0	0	1	0	86	302					G	25370758	A	G	25370758	3	3	79	1	0	0	0	0	1	0	0	0	17643	246	9	4	1564	4	ZCCHC4	4	25370758	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7159	25370758	165783518	5159	15476											
ANAPC4	29945	broad.mit.edu	37	chr4	25390499	25390499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattaagctcttgggagaCgtcaggtaaatcttacagat	9	6	3	2	rs140263991	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTTGGGAGACGTCAGGTAAA	0.294																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(508-510)gaC>gaT		anaphase promoting complex subunit 4		C		0,4356		0,0,2178	43	48	46		510	-0.5	1	4	dbSNP_134	46	1,8565		0,1,4282	no	coding-synonymous	ANAPC4	NM_013367.2		0,1,6460	TT,TC,CC		0.0117,0.0,0.0077		170/809	25390499	1,12921	2178	4283	6461	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25390499C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.510C>T	4.37:g.25390499C>T						ANAPC4_ENST00000510092.1_Silent_p.D170D	p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			7	652	+		Breast(46;0.0503)	170					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.510C>T	CCDS3434.1																																																																																				0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		28	184	0	0	0	1	0	28	184					T	25390499	C	T	25390499	2	4	79	1	0	0	0	0	0	0	0	1	604	535	19	1		1	ANAPC4	4	25390499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19741	25390499	165763777	5160	15477											
ANAPC4	29945	broad.mit.edu	37	chr4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttacagcttgaaactaatCtgttgtactctttcttacct	4	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAACTAATCTGTTGTACTC	0.358																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(718-720)Ctg>Atg		anaphase promoting complex subunit 4							164	153	157					4																	25393972		2202	4300	6502	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25393972C>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.718C>A	4.37:g.25393972C>A	ENSP00000318775:p.Leu240Met					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			10	860	+		Breast(46;0.0503)	240					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.718C>A	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177817	0.57692	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36878	1.24;1.23	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.63843	1.955	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.55418	-0.8144	10	0.59425	D	0.04	-12.3556	11.2235	0.48869	0.0:0.859:0.0:0.141	.	240;240;240	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	M	240	ENSP00000318775:L240M;ENSP00000426654:L240M	ENSP00000318775:L240M	L	+	1	2	ANAPC4	25003070	0.929000	0.31497	0.971000	0.41717	0.830000	0.47004	1.862000	0.39448	2.711000	0.92665	0.655000	0.94253	CTG		0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		44	234	1	0	2.13384e-23	1	2.42615e-23	44	234					A	25393972	C	A	25393972	3	1	79	1	0	0	0	0	1	0	0	0	604	912	32	3	752	3	ANAPC4	4	25393972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	25393972	165760304	5161	15478											
ANAPC4	29945	broad.mit.edu	37	chr4	25418146	25418146	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaagagatagactcttggtCcagctgcctttgtctttagt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GACTCTTGGTCCAGCTGCCTT	0.373																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(1999-2001)gtC>gtA		anaphase promoting complex subunit 4							118	112	114					4																	25418146		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418146C>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2001C>A	4.37:g.25418146C>A						ANAPC4_ENST00000510092.1_Silent_p.V668V	p.V667V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2143	+		Breast(46;0.0503)	667					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.2001C>A	CCDS3434.1																																																																																				0.373	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		52	253	1	0	1.38909e-20	1	1.55765e-20	52	253					A	25418146	C	A	25418146	2	1	79	1	0	0	0	0	0	0	0	1	604	842	30	3		3	ANAPC4	4	25418146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24174	25418146	165736130	5162	15479											
ANAPC4	29945	broad.mit.edu	37	chr4	25418162	25418162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagctgcctttgtctTtagtatataacagtgaagat	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418162T>G	ENST00000315368.3	+	27	2159	c.2017T>G	c.(2017-2019)Tta>Gta	p.L673V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	673					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GCCTTTGTCTTTAGTATATAA	0.358																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(2017-2019)Tta>Gta		anaphase promoting complex subunit 4							111	106	108					4																	25418162		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418162T>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2017T>G	4.37:g.25418162T>G	ENSP00000318775:p.Leu673Val					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	p.L673V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2159	+		Breast(46;0.0503)	673					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.2017T>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	8.177	0.792979	0.16327	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30714	1.52;1.52	5.68	4.4	0.53042	.	0.582512	0.18955	N	0.126564	T	0.16342	0.0393	N	0.19112	0.55	0.24966	N	0.991691	B	0.29716	0.255	B	0.21360	0.034	T	0.19647	-1.0299	10	0.12766	T	0.61	1.9083	9.7585	0.40517	0.0:0.0994:0.0:0.9006	.	673	Q9UJX5	APC4_HUMAN	V	673;674	ENSP00000318775:L673V;ENSP00000426654:L674V	ENSP00000318775:L673V	L	+	1	2	ANAPC4	25027260	0.824000	0.29247	0.509000	0.27700	0.972000	0.66771	1.617000	0.36943	0.852000	0.35287	0.445000	0.29226	TTA		0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		6	324	0	0	0	1	0	6	324					G	25418162	T	G	25418162	3	3	79	1	0	0	0	0	1	0	0	0	604	1838	64	4	2119	4	ANAPC4	4	25418162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	25418162	165736114	5163	15480											
SLC34A2	10568	broad.mit.edu	37	chr4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactaagcccttcacaaagCtcattgtccaggtaacttag	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	274					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(820-822)Ctc>Ttc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							136	135	135					4																	25671453		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671453C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.820C>T	4.37:g.25671453C>T	ENSP00000371483:p.Leu274Phe					SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F	p.L274F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	870	+		Breast(46;0.0503)	274					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.820C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592077	0.66219	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26660	1.73;1.72;1.73	5.39	4.53	0.55603	.	0.470827	0.24917	N	0.034573	T	0.48768	0.1518	M	0.85710	2.77	0.39028	D	0.95987	P;B	0.51791	0.948;0.086	P;B	0.56823	0.807;0.036	T	0.55724	-0.8096	10	0.30854	T	0.27	-30.4741	14.7178	0.69284	0.0:0.7251:0.2749:0.0	.	273;274	O95436-2;O95436	.;NPT2B_HUMAN	F	273;274;273	ENSP00000425501:L273F;ENSP00000371483:L274F;ENSP00000423021:L273F	ENSP00000371483:L274F	L	+	1	0	SLC34A2	25280551	1.000000	0.71417	0.956000	0.39512	0.953000	0.61014	1.867000	0.39499	1.372000	0.46190	0.561000	0.74099	CTC		0.463	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		122	568	0	0	0	1	0	122	568					T	25671453	C	T	25671453	3	4	79	1	0	0	0	0	1	0	0	0	14618	797	28	2	842	2	SLC34A2	4	25671453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253291	25671453	165482823	5164	15481											
SLC34A2	10568	broad.mit.edu	37	chr4	25672428	25672428	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaacaagagtcttgtcaaGatttggtgcaaaacttttac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000504570.1_Silent_p.K299K|SLC34A2_ENST00000503434.1_Silent_p.K299K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	300					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(898-900)aaG>aaA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							80	71	74					4																	25672428		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25672428G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.900G>A	4.37:g.25672428G>A						SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	p.K300K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			8	950	+		Breast(46;0.0503)	300					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.900G>A	CCDS3435.1																																																																																				0.408	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		27	188	0	0	0	1	0	27	188					A	25672428	G	A	25672428	2	1	79	1	0	0	0	0	0	0	0	1	14618	933	33	2		2	SLC34A2	4	25672428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	25672428	165481848	5165	15482											
SLC34A2	10568	broad.mit.edu	37	chr4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccacctcccggatcttgCtgtgggcaccatcttgctca	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	363					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGATCTTGCTGTGGGCACC	0.532			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1087-1089)gCt>gAt		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							214	188	197					4																	25674748		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674748C>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1088C>A	4.37:g.25674748C>A	ENSP00000371483:p.Ala363Asp					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	p.A363D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			10	1138	+		Breast(46;0.0503)	363					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1088C>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168115	0.38315	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25912	1.77;1.77;1.77	5.28	0.993	0.19825	.	0.197636	0.53938	D	0.000059	T	0.45935	0.1367	M	0.89214	3.015	0.53688	D	0.999974	D;P	0.60160	0.987;0.955	P;P	0.58928	0.848;0.71	T	0.43988	-0.9357	10	0.62326	D	0.03	-4.0036	7.2379	0.26079	0.0:0.6647:0.1176:0.2177	.	362;363	O95436-2;O95436	.;NPT2B_HUMAN	D	362;363;362	ENSP00000425501:A362D;ENSP00000371483:A363D;ENSP00000423021:A362D	ENSP00000371483:A363D	A	+	2	0	SLC34A2	25283846	0.032000	0.19561	0.001000	0.08648	0.024000	0.10985	0.470000	0.22084	0.223000	0.20920	0.561000	0.74099	GCT		0.532	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		14	506	1	0	2.31682e-05	1	2.36778e-05	14	506					A	25674748	C	A	25674748	3	1	79	1	0	0	0	0	1	0	0	0	14618	797	28	3	1122	3	SLC34A2	4	25674748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2320	25674748	165479528	5166	15483											
SLC34A2	10568	broad.mit.edu	37	chr4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcttgtgttgcagatcGccctgtgccactttttcttc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	488					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A488S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - Missense(1)	p.A488S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1462-1464)Gcc>Acc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							86	69	75					4																	25677760		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677760G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1462G>A	4.37:g.25677760G>A	ENSP00000371483:p.Ala488Thr					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T	p.A488T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1512	+		Breast(46;0.0503)	488					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1462G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389047	0.82902	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.87179	-2.22;-2.22;-2.22	5.04	4.13	0.48395	.	0.106321	0.64402	D	0.000005	D	0.89396	0.6703	M	0.83483	2.645	0.80722	D	1	P;P	0.49447	0.924;0.869	B;P	0.46208	0.311;0.507	D	0.91155	0.4956	10	0.62326	D	0.03	-35.5842	14.5209	0.67849	0.0:0.0:0.8528:0.1472	.	487;488	O95436-2;O95436	.;NPT2B_HUMAN	T	487;488;487	ENSP00000425501:A487T;ENSP00000371483:A488T;ENSP00000423021:A487T	ENSP00000371483:A488T	A	+	1	0	SLC34A2	25286858	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	6.559000	0.73946	2.504000	0.84457	0.561000	0.74099	GCC		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		35	196	0	0	0	1	0	35	196					A	25677760	G	A	25677760	3	1	79	1	0	0	0	0	1	0	0	0	14618	1087	38	1	1508	1	SLC34A2	4	25677760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3012	25677760	165476516	5167	15484											
SLC34A2	10568	broad.mit.edu	37	chr4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccctgggatgccgtcGtctccaagttcaccggctgc	12	14	2	1	rs199853390		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	607					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1819-1821)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49	49	49					4																	25678117		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678117G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1819G>A	4.37:g.25678117G>A	ENSP00000371483:p.Val607Ile					SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I	p.V607I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1869	+		Breast(46;0.0503)	607					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1819G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718847	0.00700	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20881	2.04;2.04;2.04	5.48	-8.75	0.00834	.	0.547357	0.21007	N	0.081741	T	0.04092	0.0114	N	0.01535	-0.81	0.09310	N	1	B;B	0.20052	0.041;0.004	B;B	0.19391	0.025;0.004	T	0.24693	-1.0153	10	0.02654	T	1	-15.9216	10.1574	0.42831	0.2074:0.0912:0.6111:0.0903	.	606;607	O95436-2;O95436	.;NPT2B_HUMAN	I	606;607;606	ENSP00000425501:V606I;ENSP00000371483:V607I;ENSP00000423021:V606I	ENSP00000371483:V607I	V	+	1	0	SLC34A2	25287215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-1.512000	0.01791	-2.511000	0.00188	GTC		0.647	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		92	384	0	0	0	1	0	92	384					A	25678117	G	A	25678117	3	1	79	1	0	0	0	0	1	0	0	0	14618	1145	40	1	1865	1	SLC34A2	4	25678117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	25678117	165476159	5168	15485											
SLC34A2	10568	broad.mit.edu	37	chr4	25678182	25678182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgtgtgctgccgcgcGtgctgcttgctgtgtgactg	16	12	0	1	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000504570.1_Silent_p.A627A|SLC34A2_ENST00000503434.1_Silent_p.A627A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1882-1884)gcG>gcA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							28	29	29					4																	25678182		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678182G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1884G>A	4.37:g.25678182G>A						SLC34A2_ENST00000503434.1_Silent_p.A627A|SLC34A2_ENST00000504570.1_Silent_p.A627A	p.A628A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1934	+		Breast(46;0.0503)	628			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1884G>A	CCDS3435.1																																																																																				0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		52	244	0	0	0	1	0	52	244					A	25678182	G	A	25678182	2	1	79	1	0	0	0	0	0	0	0	1	14618	1132	40	1		1	SLC34A2	4	25678182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	25678182	165476094	5169	15486											
SEL1L3	23231	broad.mit.edu	37	chr4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatccagtctcataaaagaCtgcaaggtagtaggatgctt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	578						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1732-1734)Gtc>Ttc		sel-1 suppressor of lin-12-like 3 (C. elegans)							70	66	67					4																	25806207		1922	4135	6057	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25806207C>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1732G>T	4.37:g.25806207C>A	ENSP00000382767:p.Val578Phe					SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F	p.V578F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			10	1854	-			578					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1732G>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141414	0.57044	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55234	0.53;0.53;0.53	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.278006	0.40818	N	0.001003	T	0.71256	0.3318	M	0.64997	1.995	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	T	0.64466	-0.6401	10	0.29301	T	0.29	-31.0739	20.2822	0.98520	0.0:1.0:0.0:0.0	.	578	Q68CR1	SE1L3_HUMAN	F	578;543;425	ENSP00000382767:V578F;ENSP00000264868:V543F;ENSP00000425438:V425F	ENSP00000264868:V543F	V	-	1	0	SEL1L3	25415305	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.078000	0.57606	2.806000	0.96561	0.655000	0.94253	GTC		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		15	84	1	0	1.05317e-09	1	1.11087e-09	15	84					A	25806207	C	A	25806207	3	1	79	1	0	0	0	0	1	0	0	0	14062	565	20	3	1726	3	SEL1L3	4	25806207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128025	25806207	165348069	5170	15487											
SEL1L3	23231	broad.mit.edu	37	chr4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggtctgattgtggtagCttttcaaatcctgtccaatg	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	379						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1135-1137)aGc>aAc		sel-1 suppressor of lin-12-like 3 (C. elegans)							132	124	127					4																	25831741		1906	4125	6031	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25831741C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1136G>A	4.37:g.25831741C>T	ENSP00000382767:p.Ser379Asn					SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N	p.S379N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			6	1258	-			379					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1136G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817053	0.16607	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.22336	1.96;1.96;1.96	5.51	3.7	0.42460	.	0.608051	0.19394	N	0.115339	T	0.11793	0.0287	N	0.22421	0.69	0.22903	N	0.998582	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.16896	T	0.51	-2.3838	6.5098	0.22216	0.0:0.7152:0.1836:0.1012	.	379	Q68CR1	SE1L3_HUMAN	N	379;344;226	ENSP00000382767:S379N;ENSP00000264868:S344N;ENSP00000425438:S226N	ENSP00000264868:S344N	S	-	2	0	SEL1L3	25440839	0.983000	0.35010	0.431000	0.26735	0.319000	0.28217	1.330000	0.33781	0.611000	0.30052	0.655000	0.94253	AGC		0.403	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		16	74	0	0	0	1	0	16	74					T	25831741	C	T	25831741	3	4	79	1	0	0	0	0	1	0	0	0	14062	797	28	2	2338	2	SEL1L3	4	25831741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25534	25831741	165322535	5171	15488											
RBPJ	3516	broad.mit.edu	37	chr4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcatttattgggataGgaaatagtgaccaagaaatg	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000361572.6	+	4	510	c.316G>T	c.(316-318)Gga>Tga	p.G106*	RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	106					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(274-276)Gga>Tga		recombination signal binding protein for immunoglobulin kappa J region							138	144	142					4																	26417218		2203	4300	6503	SO:0001587	stop_gained	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417218G>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.316G>T	4.37:g.26417218G>T	ENSP00000354528:p.Gly106*					RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.G106*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*	p.G92*			Q06330	SUH_HUMAN			4	450	+		Breast(46;0.0503)	106					B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	ENST00000361572.6	37	c.274G>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278968	0.95489	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5728	19.4292	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	92;129;92;106;91;106;106;93;92;71;92;71;92;71;92;92;92;71	.	ENSP00000345206:G106X	G	+	1	0	RBPJ	26026316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GGA		0.413	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		144	665	1	0	8.174e-68	1	1.03582e-67	144	665					T	26417218	G	T	26417218	4	4	79	1	0	0	0	0	0	1	0	0	13211	1001	35	3	393	3	RBPJ	4	26417218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585477	26417218	164737058	5172	15489											
RBPJ	3516	broad.mit.edu	37	chr4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcagatgatcctgtgTcacaactccataaatgtgca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000361572.6	+	8	1035	c.841T>G	c.(841-843)Tca>Gca	p.S281A	RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	281					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(799-801)Tca>Gca		recombination signal binding protein for immunoglobulin kappa J region							60	62	61					4																	26430396		2203	4297	6500	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26430396T>G	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.841T>G	4.37:g.26430396T>G	ENSP00000354528:p.Ser281Ala					RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000361572.6_Missense_Mutation_p.S281A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A	p.S267A			Q06330	SUH_HUMAN			8	975	+		Breast(46;0.0503)	281					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.799T>G	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623780	0.87460	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.989;0.989;0.993	T	0.65952	-0.6043	10	0.87932	D	0	-14.0998	15.6036	0.76646	0.0:0.0:0.0:1.0	.	281;267;268;267;266;281	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	A	266;281;281;268;267;246;267;267;19	ENSP00000305815:S266A;ENSP00000345206:S281A;ENSP00000354528:S281A;ENSP00000339699:S268A;ENSP00000347659:S267A;ENSP00000423907:S246A;ENSP00000423703:S267A;ENSP00000340124:S267A;ENSP00000421804:S19A	ENSP00000345206:S281A	S	+	1	0	RBPJ	26039494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.100000	0.63781	0.533000	0.62120	TCA		0.313	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		36	149	0	0	0	1	0	36	149					G	26430396	T	G	26430396	3	3	79	1	0	0	0	0	1	0	0	0	13211	1667	58	4	934	4	RBPJ	4	26430396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13178	26430396	164723880	5173	15490											
CCKAR	886	broad.mit.edu	37	chr4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagaacctggacagagaggCtcctgtggtcccgccttcct	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	411					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1231-1233)Gcc>Tcc		cholecystokinin A receptor	Ceruletide(DB00403)						98	98	98					4																	26483316		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483316C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1231G>T	4.37:g.26483316C>A	ENSP00000295589:p.Ala411Ser						p.A411S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1425	-		Breast(46;0.0503)	411					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1231G>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156622	0.57259	.	.	ENSG00000163394	ENST00000295589	T	0.52754	0.65	5.26	5.26	0.73747	.	0.267689	0.37136	N	0.002234	T	0.59376	0.2189	M	0.74258	2.255	0.37303	D	0.908806	D	0.55605	0.972	P	0.53102	0.718	T	0.60934	-0.7164	10	0.09084	T	0.74	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	411	P32238	CCKAR_HUMAN	S	411	ENSP00000295589:A411S	ENSP00000295589:A411S	A	-	1	0	CCKAR	26092414	1.000000	0.71417	0.802000	0.32245	0.053000	0.15095	6.257000	0.72480	2.452000	0.82932	0.563000	0.77884	GCC		0.667	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			89	748	1	0	3.60193e-44	1	4.40587e-44	89	748					A	26483316	C	A	26483316	3	1	79	1	0	0	0	0	1	0	0	0	2887	797	28	3	59	3	CCKAR	4	26483316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52920	26483316	164670960	5174	15491											
CCKAR	886	broad.mit.edu	37	chr4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatcgctgtcctcatatTtgccgctgctggtggtgcta	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	262					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(784-786)aAa>aCa		cholecystokinin A receptor	Ceruletide(DB00403)						72	77	75					4																	26483762		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483762T>G	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.785A>C	4.37:g.26483762T>G	ENSP00000295589:p.Lys262Thr						p.K262T	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	979	-		Breast(46;0.0503)	262					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.785A>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512836	0.04200	.	.	ENSG00000163394	ENST00000295589	T	0.52057	0.68	5.22	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.297788	0.35870	N	0.002939	T	0.28400	0.0702	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.15925	-1.0420	10	0.12103	T	0.63	.	2.5809	0.04818	0.1187:0.2967:0.1177:0.4669	.	262	P32238	CCKAR_HUMAN	T	262	ENSP00000295589:K262T	ENSP00000295589:K262T	K	-	2	0	CCKAR	26092860	0.943000	0.32029	0.000000	0.03702	0.023000	0.10783	1.881000	0.39638	-0.333000	0.08476	-0.624000	0.04008	AAA		0.617	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			106	459	0	0	0	1	0	106	459					G	26483762	T	G	26483762	3	3	79	1	0	0	0	0	1	0	0	0	2887	1841	64	4	505	4	CCKAR	4	26483762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	446	26483762	164670514	5175	15492											
CCKAR	886	broad.mit.edu	37	chr4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaaaagcgtctcattttCgagcccgagttcacagggag	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(67-69)Gaa>Aaa		cholecystokinin A receptor	Ceruletide(DB00403)						115	97	103					4																	26491823		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491823C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.67G>A	4.37:g.26491823C>T	ENSP00000295589:p.Glu23Lys						p.E23K	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			1	261	-		Breast(46;0.0503)	23					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.67G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575313	0.45902	.	.	ENSG00000163394	ENST00000295589	T	0.51071	0.72	5.27	4.42	0.53409	Cholecystokinin A receptor, N-terminal (2);	0.151828	0.43579	D	0.000542	T	0.38585	0.1046	L	0.60455	1.87	0.36322	D	0.858324	B	0.16603	0.018	B	0.12156	0.007	T	0.32052	-0.9921	10	0.07644	T	0.81	.	10.6755	0.45783	0.0:0.913:0.0:0.087	.	23	P32238	CCKAR_HUMAN	K	23	ENSP00000295589:E23K	ENSP00000295589:E23K	E	-	1	0	CCKAR	26100921	0.774000	0.28592	0.115000	0.21578	0.971000	0.66376	1.594000	0.36697	2.477000	0.83638	0.655000	0.94253	GAA		0.483	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			44	158	0	0	0	1	0	44	158					T	26491823	C	T	26491823	3	4	79	1	0	0	0	0	1	0	0	0	2887	893	31	1	1239	1	CCKAR	4	26491823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8061	26491823	164662453	5176	15493											
TBC1D19	55296	broad.mit.edu	37	chr4	26638889	26638889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtgcactgaactgagTatcccactggcacgaaaggt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.S52S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	117							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(349-351)agT>agC		TBC1 domain family, member 19							76	78	77					4																	26638889		2203	4299	6502	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26638889T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.351T>C	4.37:g.26638889T>C						TBC1D19_ENST00000511789.1_Silent_p.S52S|TBC1D19_ENST00000515568.1_3'UTR	p.S117S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			5	629	+		Breast(46;0.0503)	117					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.351T>C	CCDS3439.1																																																																																				0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		73	341	0	0	0	1	0	73	341					C	26638889	T	C	26638889	2	2	79	1	0	0	0	0	0	0	0	1	15659	1635	57	4		4	TBC1D19	4	26638889	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147066	26638889	164515387	5177	15494											
PCDH7	5099	broad.mit.edu	37	chr4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcaggccatcctacgggTcctcatcaccgacgtgaacg	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	296	Cadherin 2. {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)			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						ATCCTACGGGTCCTCATCACC	0.687																																						ENST00000361762.2																			0				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						c.(886-888)gTc>gCc		protocadherin 7							9	12	11					4																	30723931		2184	4272	6456	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723931T>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.887T>C	4.37:g.30723931T>C	ENSP00000355243:p.Val296Ala					PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1895	+			296			Cadherin 2.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.887T>C	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329591	0.81690	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89033	0.6600	H	0.97023	3.925	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.74348	0.971;0.983	D	0.92703	0.6176	9	0.87932	D	0	.	14.8453	0.70257	0.0:0.0:0.0:1.0	.	296;296	F5GWJ1;O60245	.;PCDH7_HUMAN	A	296	ENSP00000355243:V296A;ENSP00000441802:V296A	ENSP00000355243:V296A	V	+	2	0	PCDH7	30333029	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.245000	0.72398	1.897000	0.54924	0.454000	0.30748	GTC		0.687	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		17	73	0	0	0	1	0	17	73					C	30723931	T	C	30723931	3	2	79	1	0	0	0	0	1	0	0	0	11558	1667	58	4	889	4	PCDH7	4	30723931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4085042	30723931	160430345	5178	15495											
PCDH7	5099	broad.mit.edu	37	chr4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccacaatgtcttttgacCgggaacatcagaccacatac	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	702	Cadherin 6. {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)			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						GTCTTTTGACCGGGAACATCA	0.468																																						ENST00000361762.2																			0				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						c.(2104-2106)Cgg>Tgg		protocadherin 7							121	119	120					4																	30725148		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725148C>T	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.2104C>T	4.37:g.30725148C>T	ENSP00000355243:p.Arg702Trp					PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3112	+			702			Cadherin 6.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2104C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.221890|2.221890	0.39300|0.39300	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60299	.|0.2;0.2	5.25|5.25	2.43|2.43	0.29744|0.29744	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	D|D	0.83440|0.83440	0.5255|0.5255	H|H	0.97291|0.97291	3.975|3.975	0.49130|0.49130	D|D	0.999753|0.999753	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.88153|0.88153	0.2852|0.2852	5|9	.|0.87932	.|D	.|0	.|.	14.7006|14.7006	0.69154|0.69154	0.6418:0.3582:0.0:0.0|0.6418:0.3582:0.0:0.0	.|.	.|702;655;702	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|W	391|702;702;655	.|ENSP00000355243:R702W;ENSP00000441802:R702W	.|ENSP00000330302:R655W	P|R	+|+	2|1	0|2	PCDH7|PCDH7	30334246|30334246	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.084000|0.084000	0.14891|0.14891	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		126	673	0	0	0	1	0	126	673					T	30725148	C	T	30725148	3	4	79	1	0	0	0	0	1	0	0	0	11558	643	23	1	2106	1	PCDH7	4	30725148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1217	30725148	160429128	5179	15496											
ARAP2	116984	broad.mit.edu	37	chr4	36118684	36118684	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacctttagaacttaccCgaattataatactacagtcg	4	11	0	1	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAACTTACCCGAATTATAAT	0.328																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.e25+1		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	67	66	67		4037	5.8	1	4	dbSNP_134	67	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice	ARAP2	NM_015230.3	43	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging	1346/1705	36118684	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36118684C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4038+1G>A	4.37:g.36118684C>T							p.R1346_splice	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			25	4526	-			1346			Ras-associating.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	37	c.4038_splice	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660559	0.88154	4.54E-4	4.65E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.76	5.76	0.90799	Ras-association (2);	0.056391	0.64402	D	0.000002	T	0.28267	0.0698	L	0.28274	0.84	0.42707	D	0.993635	D	0.63046	0.992	P	0.58391	0.838	T	0.00695	-1.1606	10	0.51188	T	0.08	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	1346	Q8WZ64	ARAP2_HUMAN	Q	1346	ENSP00000302895:R1346Q	ENSP00000302895:R1346Q	R	-	2	0	ARAP2	35795079	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.102000	0.50291	2.880000	0.98712	0.650000	0.86243	CGG		0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Missense_Mutation	19	107	0	0	0	1	0	19	107					T	36118684	C	T	36118684	5	4	79	1	0	0	0	0	0	0	1	0	839	666	23	1	1113	1	ARAP2	4	36118684	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5393536	36118684	155035592	5180	15497											
C4orf19	55286	broad.mit.edu	37	chr4	37592370	37592370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcatggtttgaatacGcccttctctgtgaggagaag	15	7	1	3	rs370496029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_ENST00000381980.4_Silent_p.T231T|C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(691-693)acG>acA		chromosome 4 open reading frame 19		G	,	1,4405	2.1+/-5.4	0,1,2202	66	65	65		693,693	-1.5	0	4		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C4orf19	NM_001104629.1,NM_018302.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	231/315,231/315	37592370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55286							g.chr4:37592370G>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.693G>A	4.37:g.37592370G>A						C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T	p.T231T	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	871	+			231					Q9NV03	Silent	SNP	ENST00000284437.6	37	c.693G>A	CCDS3442.1																																																																																				0.458	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		36	176	0	0	0	1	0	36	176					A	37592370	G	A	37592370	2	1	79	1	0	0	0	0	0	0	0	1	2260	1074	38	1		1	C4orf19	4	37592370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473686	37592370	153561906	5181	15498											
TLR1	7096	broad.mit.edu	37	chr4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaaataagtcctcctgGccatgagacttttgagcttg	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000502213.2	-	3	2481	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A751V			Q15399	TLR1_HUMAN	toll-like receptor 1	751	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2251-2253)gCc>gTc		toll-like receptor 1							114	108	110					4																	38798201		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798201G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2252C>T	4.37:g.38798201G>A	ENSP00000421259:p.Ala751Val					TLR1_ENST00000502213.2_Missense_Mutation_p.A751V	p.A751V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2525	-			751			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.2252C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838515	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.2	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.292074	0.28135	N	0.016470	D	0.83547	0.5278	M	0.71581	2.175	0.37433	D	0.914121	P	0.41929	0.765	P	0.45794	0.493	D	0.85029	0.0916	10	0.72032	D	0.01	.	10.1212	0.42621	0.0714:0.0:0.7915:0.1371	.	751	Q15399	TLR1_HUMAN	V	751	ENSP00000354932:A751V;ENSP00000421259:A751V	ENSP00000354932:A751V	A	-	2	0	TLR1	38474596	0.270000	0.24152	0.617000	0.29091	0.051000	0.14879	1.387000	0.34430	0.677000	0.31305	-0.251000	0.11542	GCC		0.443	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			73	315	0	0	0	1	0	73	315					A	38798201	G	A	38798201	3	1	79	1	0	0	0	0	1	0	0	0	16001	1203	42	2	112	2	TLR1	4	38798201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205831	38798201	152356075	5182	15499											
TLR1	7096	broad.mit.edu	37	chr4	38800334	38800334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgggataggtctttaGgaacgtggatgagaccgttt	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800334G>T	ENST00000502213.2	-	3	348	c.119C>A	c.(118-120)cCt>cAt	p.P40H	TLR1_ENST00000308979.2_Missense_Mutation_p.P40H			Q15399	TLR1_HUMAN	toll-like receptor 1	40					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAGGTCTTTAGGAACGTGGAT	0.323																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(118-120)cCt>cAt		toll-like receptor 1							74	81	79					4																	38800334		2198	4298	6496	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800334G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.119C>A	4.37:g.38800334G>T	ENSP00000421259:p.Pro40His					TLR1_ENST00000502213.2_Missense_Mutation_p.P40H	p.P40H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	392	-			40					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.119C>A	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365940	0.82463	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146	T;T;T;D;D	0.88741	1.76;1.76;3.61;-2.42;-1.63	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000019	D	0.94915	0.8356	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95318	0.8418	10	0.87932	D	0	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	40	Q15399	TLR1_HUMAN	H	40	ENSP00000354932:P40H;ENSP00000421259:P40H;ENSP00000421856:P40H;ENSP00000423017:P40H;ENSP00000423725:P40H	ENSP00000354932:P40H	P	-	2	0	TLR1	38476729	1.000000	0.71417	0.983000	0.44433	0.025000	0.11179	6.830000	0.75319	2.713000	0.92767	0.655000	0.94253	CCT		0.323	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			83	350	1	0	5.04879e-28	1	5.86081e-28	83	350					T	38800334	G	T	38800334	3	4	79	1	0	0	0	0	1	0	0	0	16001	1000	35	3	2245	3	TLR1	4	38800334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	38800334	152353942	5183	15500											
TLR1	7096	broad.mit.edu	37	chr4	38800423	38800423	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgaagtattaacatgaaGataatggcaaaatggaagat	9	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000502213.2	-	3	259	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000308979.2_Silent_p.I10I			Q15399	TLR1_HUMAN	toll-like receptor 1	10					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(28-30)atC>atA		toll-like receptor 1							36	39	38					4																	38800423		2196	4293	6489	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800423G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.30C>A	4.37:g.38800423G>T						TLR1_ENST00000502213.2_Silent_p.I10I	p.I10I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	303	-			10					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.30C>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			14	146	1	0	4.93089e-13	1	5.31412e-13	14	146					T	38800423	G	T	38800423	2	4	79	1	0	0	0	0	0	0	0	1	16001	932	33	3		3	TLR1	4	38800423	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	38800423	152353853	5184	15501											
TLR6	10333	broad.mit.edu	37	chr4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacaaatttaacaccaCtatactctcaacccaagtgc	4	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000381950.1	-	1	1356	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000436693.2_Missense_Mutation_p.V431L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	431					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1291-1293)Gtg>Ttg		toll-like receptor 6							113	120	118					4																	38829804		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829804C>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1291G>T	4.37:g.38829804C>A	ENSP00000371376:p.Val431Leu					TLR6_ENST00000381950.1_Missense_Mutation_p.V431L	p.V431L	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1410	-			431					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1291G>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637613	0.03557	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.52295	0.67;0.67	5.14	-0.74	0.11115	.	1.929330	0.02338	N	0.074593	T	0.27933	0.0688	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05954	-1.0854	10	0.11794	T	0.64	.	2.4207	0.04447	0.2402:0.4105:0.1997:0.1497	.	431	Q9Y2C9	TLR6_HUMAN	L	431	ENSP00000389600:V431L;ENSP00000371376:V431L	ENSP00000371376:V431L	V	-	1	0	TLR6	38506199	0.000000	0.05858	0.850000	0.33497	0.978000	0.69477	-0.572000	0.05881	-0.071000	0.12886	0.484000	0.47621	GTG		0.373	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			131	572	1	0	4.21061e-56	1	5.26708e-56	131	572					A	38829804	C	A	38829804	3	1	79	1	0	0	0	0	1	0	0	0	16007	565	20	3	1103	3	TLR6	4	38829804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29381	38829804	152324472	5185	15502											
WDR19	57728	broad.mit.edu	37	chr4	39191347	39191347	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaaatctagctgcaTttatctttgggatgccaaca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000399820.3	+	4	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_ENST00000506503.1_Missense_Mutation_p.I79S|WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	79					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358																																						ENST00000288634.7																			0				large_intestine(1)	1								WD repeat domain 19							111	110	110					4																	39191347		1850	4117	5967	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39191347T>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.236T>G	4.37:g.39191347T>G	ENSP00000382717:p.Ile79Ser					WDR19_ENST00000506503.1_Missense_Mutation_p.I79S|WDR19_ENST00000399820.3_Missense_Mutation_p.I79S				Q8NEZ3	WDR19_HUMAN			0	265	+								B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Translation_Start_Site	SNP	ENST00000399820.3	37		CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564276	0.86335	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.38560	3.0;1.13;3.0	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043861	0.85682	D	0.000000	T	0.67468	0.2896	M	0.85542	2.76	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.913;0.921	T	0.73335	-0.4015	10	0.87932	D	0	-21.0613	16.3939	0.83550	0.0:0.0:0.0:1.0	.	79;79	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	S	79;20;79;78	ENSP00000382717:I79S;ENSP00000426918:I20S;ENSP00000423491:I79S	ENSP00000382717:I79S	I	+	2	0	WDR19	38867742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.670000	0.83925	2.276000	0.75962	0.455000	0.32223	ATT		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			40	203	0	0	0	1	0	40	203					G	39191347	T	G	39191347	3	3	79	1	0	0	0	0	1	0	0	0	17333	1493	52	4	250	4	WDR19	4	39191347	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	361543	39191347	151962929	5186	15503											
WDR19	57728	broad.mit.edu	37	chr4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtggatgataagtgcCgtatcttatgccatgcctta	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	477					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGATAAGTGCCGTATCTTATG	0.368																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1429-1431)Cgt>Tgt		WD repeat domain 19							267	265	265					4																	39219675		1919	4127	6046	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39219675C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1429C>T	4.37:g.39219675C>T	ENSP00000382717:p.Arg477Cys					WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	p.R477C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			14	1583	+			477					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1429C>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350198	0.82132	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.96104	-3.91;-3.91	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050040	0.85682	D	0.000000	D	0.95884	0.8660	L	0.61036	1.89	0.58432	D	0.999994	D	0.71674	0.998	P	0.54924	0.764	D	0.95584	0.8649	10	0.59425	D	0.04	-16.209	12.9712	0.58513	0.2828:0.7172:0.0:0.0	.	477	Q8NEZ3	WDR19_HUMAN	C	477;317	ENSP00000382717:R477C;ENSP00000288634:R317C	ENSP00000288634:R317C	R	+	1	0	WDR19	38896070	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.823000	0.55715	2.600000	0.87896	0.491000	0.48974	CGT		0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			32	969	0	0	0	1	0	32	969					T	39219675	C	T	39219675	3	4	79	1	0	0	0	0	1	0	0	0	17333	652	23	1	1483	1	WDR19	4	39219675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28328	39219675	151934601	5187	15504											
RFC1	5981	broad.mit.edu	37	chr4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcttcattgtattccgaatCcagggatgggcttgtgctgt	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1092					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(3274-3276)Gat>Tat		replication factor C (activator 1) 1, 145kDa							235	230	232					4																	39291557		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291557C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3274G>T	4.37:g.39291557C>A	ENSP00000371321:p.Asp1092Tyr					RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	p.D1092Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			24	3407	-			1092					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3274G>T	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.290121|2.290121	0.40494|0.40494	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	T;T|.	0.14144|.	2.53;2.53|.	5.83|5.83	3.8|3.8	0.43715|0.43715	.|.	0.392641|.	0.23591|.	N|.	0.046557|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.42668|0.42668	D|D	0.9935|0.9935	B;D|.	0.58620|.	0.074;0.983|.	B;P|.	0.61940|.	0.031;0.896|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.66056|.	D|.	0.02|.	-15.5032|-15.5032	11.9623|11.9623	0.53015|0.53015	0.0:0.7924:0.0:0.2076|0.0:0.7924:0.0:0.2076	.|.	1092;1091|.	P35251;P35251-2|.	RFC1_HUMAN;.|.	Y|V	1092;1091|68	ENSP00000371321:D1092Y;ENSP00000261424:D1091Y|.	ENSP00000261424:D1091Y|.	D|G	-|-	1|2	0|0	RFC1|RFC1	38967952|38967952	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.012000|0.012000	0.07955|0.07955	3.084000|3.084000	0.50143|0.50143	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.403	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		155	647	1	0	9.91784e-70	1	1.25895e-69	155	647					A	39291557	C	A	39291557	3	1	79	1	0	0	0	0	1	0	0	0	13294	855	30	3	180	3	RFC1	4	39291557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71882	39291557	151862719	5188	15505											
RFC1	5981	broad.mit.edu	37	chr4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaactcttttgccagtttCggagccagcgtaggagtttg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	616					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1846-1848)cGa>cAa		replication factor C (activator 1) 1, 145kDa							148	155	153					4																	39310294		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310294C>T	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1847G>A	4.37:g.39310294C>T	ENSP00000371321:p.Arg616Gln					RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			13	1980	-			616					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1847G>A	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071495	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17370	2.28;2.28	5.91	3.03	0.35002	.	0.309163	0.32416	N	0.006135	T	0.06735	0.0172	N	0.05199	-0.095	0.29184	N	0.876329	B;B	0.16802	0.005;0.019	B;B	0.14023	0.004;0.01	T	0.32640	-0.9899	10	0.15952	T	0.53	-2.8818	6.7029	0.23234	0.0:0.5824:0.0:0.4176	.	616;616	P35251;P35251-2	RFC1_HUMAN;.	Q	616	ENSP00000371321:R616Q;ENSP00000261424:R616Q	ENSP00000261424:R616Q	R	-	2	0	RFC1	38986689	0.208000	0.23494	0.998000	0.56505	0.976000	0.68499	0.502000	0.22594	0.706000	0.31912	0.655000	0.94253	CGA		0.438	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		164	755	0	0	0	1	0	164	755					T	39310294	C	T	39310294	3	4	79	1	0	0	0	0	1	0	0	0	13294	884	31	1	1648	1	RFC1	4	39310294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18737	39310294	151843982	5189	15506											
RFC1	5981	broad.mit.edu	37	chr4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagtattacctttatgaGgatatttatgtttttctgct	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	267					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(799-801)cCt>cTt		replication factor C (activator 1) 1, 145kDa							171	167	168					4																	39322915		2202	4299	6501	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39322915G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.800C>T	4.37:g.39322915G>A	ENSP00000371321:p.Pro267Leu					RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	p.P267L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			8	933	-			267					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.800C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059602	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53640	0.61;0.61	4.81	3.97	0.46021	.	0.901960	0.09779	N	0.756915	T	0.45597	0.1350	L	0.57536	1.79	0.38095	D	0.937084	B;B	0.15141	0.007;0.012	B;B	0.13407	0.003;0.009	T	0.35798	-0.9774	10	0.33940	T	0.23	-7.1936	11.0667	0.47979	0.1565:0.0:0.8435:0.0	.	267;267	P35251;P35251-2	RFC1_HUMAN;.	L	267	ENSP00000371321:P267L;ENSP00000261424:P267L	ENSP00000261424:P267L	P	-	2	0	RFC1	38999310	0.998000	0.40836	0.940000	0.37924	0.732000	0.41865	1.280000	0.33202	1.355000	0.45865	-0.127000	0.14921	CCT		0.323	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		41	243	0	0	0	1	0	41	243					A	39322915	G	A	39322915	3	1	79	1	0	0	0	0	1	0	0	0	13294	1000	35	2	2715	2	RFC1	4	39322915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12621	39322915	151831361	5190	15507											
KLB	152831	broad.mit.edu	37	chr4	39436299	39436299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacagaagacaccacggCcatctacatgatgaagaatt	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39436299C>T	ENST00000257408.4	+	2	1392	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCACGGCCATCTACATG	0.398																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1294-1296)gCc>gTc		klotho beta							60	59	60					4																	39436299		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436299C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1295C>T	4.37:g.39436299C>T	ENSP00000257408:p.Ala432Val						p.A432V	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			2	1392	+			432			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1295C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585018	0.46110	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	5.22	0.72569	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.26991	0.0661	L	0.57536	1.79	0.36098	D	0.843949	P;P	0.39809	0.689;0.689	B;B	0.34093	0.175;0.175	T	0.37820	-0.9689	10	0.44086	T	0.13	-16.2588	9.5577	0.39348	0.0:0.792:0.0:0.208	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	432	ENSP00000257408:A432V	ENSP00000257408:A432V	A	+	2	0	KLB	39112694	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.254000	0.51477	1.575000	0.49775	-0.136000	0.14681	GCC		0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		9	392	0	0	0	1	0	9	392					T	39436299	C	T	39436299	3	4	79	1	0	0	0	0	1	0	0	0	8362	739	26	2	1301	2	KLB	4	39436299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113384	39436299	151717977	5191	15508											
KLB	152831	broad.mit.edu	37	chr4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacccgctcaatgcacagaTtttgtaaacatcaaaaaaca	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1732-1734)gaT>gaG		klotho beta							101	104	103					4																	39448080		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448080T>G	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1734T>G	4.37:g.39448080T>G	ENSP00000257408:p.Asp578Glu						p.D578E	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	1831	+			578			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1734T>G	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984487	0.74474	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	5.68	-0.762	0.11034	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045170	0.85682	D	0.000000	T	0.38401	0.1039	L	0.53617	1.68	0.35765	D	0.820461	D;D	0.56746	0.977;0.977	P;P	0.57283	0.817;0.817	T	0.44050	-0.9353	10	0.42905	T	0.14	-24.6571	10.2208	0.43196	0.0:0.4305:0.0:0.5695	.	569;578	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	578	ENSP00000257408:D578E	ENSP00000257408:D578E	D	+	3	2	KLB	39124475	0.964000	0.33143	0.915000	0.36163	0.850000	0.48378	0.088000	0.14979	-0.100000	0.12241	0.397000	0.26171	GAT		0.512	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		67	308	0	0	0	1	0	67	308					G	39448080	T	G	39448080	3	3	79	1	0	0	0	0	1	0	0	0	8362	1490	52	4	1748	4	KLB	4	39448080	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11781	39448080	151706196	5192	15509											
UGDH	7358	broad.mit.edu	37	chr4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgattcttgattcatTgacatcaacaaccgttaccc	5	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000515398.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	38					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTTGATTCATTGACATCAACA	0.378																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(112-114)Aat>Gat		UDP-glucose 6-dehydrogenase	NADH(DB00157)						160	142	148					4																	39523021		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39523021T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.112A>G	4.37:g.39523021T>C	ENSP00000319501:p.Asn38Asp					UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D	p.N38D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			2	454	-			38					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.112A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639124	0.67244	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.11284	0.12	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15052	0.012;0.003	T	0.57894	-0.7732	10	0.25106	T	0.35	-3.6669	15.8218	0.78654	0.0:0.0:0.0:1.0	.	38;38	B3KUU2;O60701	.;UGDH_HUMAN	D	38;38;38;51;38;38;38;38	ENSP00000319501:N38D;ENSP00000422909:N38D;ENSP00000421757:N38D;ENSP00000421954:N51D;ENSP00000425834:N38D;ENSP00000422603:N38D;ENSP00000422565:N38D;ENSP00000427708:N38D	ENSP00000319501:N38D	N	-	1	0	UGDH	39199416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAT		0.378	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		98	404	0	0	0	1	0	98	404					C	39523021	T	C	39523021	3	2	79	1	0	0	0	0	1	0	0	0	16994	1812	63	4	1416	4	UGDH	4	39523021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74941	39523021	151631255	5193	15510											
PDS5A	23244	broad.mit.edu	37	chr4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcctgacccactgcaGctctcttccttcccttgtta	6	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(3895-3897)gCt>gTt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							98	98	98					4																	39839590		1900	4117	6017	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839590G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3896C>T	4.37:g.39839590G>A	ENSP00000303427:p.Ala1299Val						p.A1299V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			32	4435	-			1299						Missense_Mutation	SNP	ENST00000303538.8	37	c.3896C>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705450	0.48412	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	3.52	0.40303	.	0.116081	0.56097	D	0.000023	T	0.40067	0.1102	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.44278	0.445	T	0.08289	-1.0729	8	.	.	.	0.0019	10.4171	0.44329	0.073:0.135:0.792:0.0	.	1299	Q29RF7	PDS5A_HUMAN	V	1299	.	.	A	-	2	0	PDS5A	39515985	0.998000	0.40836	0.426000	0.26672	0.005000	0.04900	2.952000	0.49097	0.567000	0.29293	0.655000	0.94253	GCT		0.483	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		47	172	0	0	0	1	0	47	172					A	39839590	G	A	39839590	3	1	79	1	0	0	0	0	1	0	0	0	11733	971	34	2	125	2	PDS5A	4	39839590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316569	39839590	151314686	5194	15511											
N4BP2	55728	broad.mit.edu	37	chr4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggattcatttttggAcatgcagctaactgaagacc	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	135					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCATTTTTGGACATGCAGCTA	0.373																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(403-405)gAc>gGc		NEDD4 binding protein 2							94	91	92					4																	40103869		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40103869A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.404A>G	4.37:g.40103869A>G	ENSP00000261435:p.Asp135Gly						p.D135G	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	820	+			135					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.404A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541654	0.65085	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	6.08	0.98989	.	0.549948	0.19174	N	0.120868	T	0.73450	0.3588	L	0.32530	0.975	0.29809	N	0.831763	B;B	0.27997	0.197;0.125	B;B	0.32533	0.147;0.07	T	0.72656	-0.4227	10	0.66056	D	0.02	-8.8579	10.3186	0.43751	0.9245:0.0:0.0755:0.0	.	135;135	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	135;55;55	ENSP00000261435:D135G;ENSP00000422057:D55G	ENSP00000261435:D135G	D	+	2	0	N4BP2	39780264	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	3.636000	0.54317	2.333000	0.79357	0.482000	0.46254	GAC		0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		103	459	0	0	0	1	0	103	459					G	40103869	A	G	40103869	3	3	79	1	0	0	0	0	1	0	0	0	10151	275	10	4	410	4	N4BP2	4	40103869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264279	40103869	151050407	5195	15512											
N4BP2	55728	broad.mit.edu	37	chr4	40104536	40104536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgctgttgcctcctccGccacctccaccgatgtggaa	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	357	Pro-rich.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCCTCCTCCGCCACCTCCAC	0.512																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1069-1071)ccG>ccA		NEDD4 binding protein 2							125	121	122					4																	40104536		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104536G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1071G>A	4.37:g.40104536G>A							p.P357P	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	1487	+			357			Pro-rich.		A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.1071G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602319	0.00849	.	.	ENSG00000078177	ENST00000513269	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09618	-1.0666	4	.	.	.	-2.5964	0.9054	0.01283	0.2678:0.2321:0.2979:0.2023	.	.	.	.	T	4	.	.	A	+	1	0	N4BP2	39780931	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-1.413000	0.02473	-1.582000	0.01640	-1.303000	0.01326	GCC		0.512	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		94	401	0	0	0	1	0	94	401					A	40104536	G	A	40104536	2	1	79	1	0	0	0	0	0	0	0	1	10151	1074	38	1		1	N4BP2	4	40104536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	667	40104536	151049740	5196	15513											
N4BP2	55728	broad.mit.edu	37	chr4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagagccactcaataGctataaatatgatgcttata	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	865					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCACTCAATAGCTATAAATAT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2593-2595)aGc>aTc		NEDD4 binding protein 2							59	60	60					4																	40122325		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122325G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2594G>T	4.37:g.40122325G>T	ENSP00000261435:p.Ser865Ile						p.S865I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3010	+			865					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2594G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.638|8.638	0.895275|0.895275	0.17613|0.17613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19806|.	2.12|.	5.64|5.64	0.519|0.519	0.17035|0.17035	.|.	0.874397|.	0.10375|.	N|.	0.682311|.	T|.	0.36936|.	0.0985|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;B|.	0.37207|.	0.587;0.451|.	B;B|.	0.36464|.	0.225;0.112|.	T|.	0.32052|.	-0.9921|.	10|.	0.62326|.	D|.	0.03|.	-1.8524|-1.8524	2.9096|2.9096	0.05732|0.05732	0.1304:0.3175:0.3411:0.211|0.1304:0.3175:0.3411:0.211	.|.	865;865|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	865;785|511	ENSP00000261435:S865I|.	ENSP00000261435:S865I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39798720|39798720	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.085000|-0.085000	0.11250|0.11250	0.037000|0.037000	0.15575|0.15575	0.561000|0.561000	0.74099|0.74099	AGC|TAG		0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		39	201	1	0	3.09479e-21	1	3.48195e-21	39	201					T	40122325	G	T	40122325	3	4	79	1	0	0	0	0	1	0	0	0	10151	971	34	3	2620	3	N4BP2	4	40122325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17789	40122325	151031951	5197	15514											
N4BP2	55728	broad.mit.edu	37	chr4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtcaagagcaaatgCctaagagagaccctggaaaa	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1003					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGCAAATGCCTAAGAGAGA	0.408																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3007-3009)Cct>Tct		NEDD4 binding protein 2							64	63	63					4																	40122738		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122738C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3007C>T	4.37:g.40122738C>T	ENSP00000261435:p.Pro1003Ser						p.P1003S	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3423	+			1003					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3007C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.566015|-1.566015	0.00903|0.00903	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	6.02|6.02	-3.81|-3.81	0.04294|0.04294	.|.	.|1.432000	.|0.03800	.|N	.|0.264223	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.18276	.|T	.|0.48	0.3197|0.3197	1.666|1.666	0.02802|0.02802	0.2159:0.2675:0.099:0.4175|0.2159:0.2675:0.099:0.4175	.|.	.|1003;1003	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	V|S	649|1003;923	.|ENSP00000261435:P1003S	.|ENSP00000261435:P1003S	A|P	+|+	2|1	0|0	N4BP2|N4BP2	39799133|39799133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.930000|-0.930000	0.03972|0.03972	-1.381000|-1.381000	0.02112|0.02112	-0.140000|-0.140000	0.14226|0.14226	GCC|CCT		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		29	310	0	0	0	1	0	29	310					T	40122738	C	T	40122738	3	4	79	1	0	0	0	0	1	0	0	0	10151	739	26	2	3033	2	N4BP2	4	40122738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	413	40122738	151031538	5198	15515											
N4BP2	55728	broad.mit.edu	37	chr4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaccctgtaaaaacaGttgtagcccaagagtttgtt	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1571					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAAAACAGTTGTAGCCCA	0.338																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4711-4713)Gtt>Att		NEDD4 binding protein 2							75	75	75					4																	40138628		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40138628G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4711G>A	4.37:g.40138628G>A	ENSP00000261435:p.Val1571Ile						p.V1571I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			14	5127	+			1571					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4711G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676723|4.676723	0.88445|0.88445	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.22134	.|1.97	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.069343	.|0.56097	.|D	.|0.000029	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.32530|0.32530	0.975|0.975	0.48341|0.48341	D|D	0.999636|0.999636	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.03025|0.03025	-1.1081|-1.1081	5|10	.|0.39692	.|T	.|0.17	-14.4961|-14.4961	17.3733|17.3733	0.87384|0.87384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1571;1571	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	1217|1571;1491	.|ENSP00000261435:V1571I	.|ENSP00000261435:V1571I	S|V	+|+	2|1	0|0	N4BP2|N4BP2	39815023|39815023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.671000|7.671000	0.83941|0.83941	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	AGT|GTT		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		40	225	0	0	0	1	0	40	225					A	40138628	G	A	40138628	3	1	79	1	0	0	0	0	1	0	0	0	10151	1029	36	2	4757	2	N4BP2	4	40138628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15890	40138628	151015648	5199	15516											
N4BP2	55728	broad.mit.edu	37	chr4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtacctcataagccataGcttcaggtgagtgtagattt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1754	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGCCATAGCTTCAGGTGA	0.408																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5260-5262)aGc>aTc		NEDD4 binding protein 2							148	130	136					4																	40154517		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40154517G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.5261G>T	4.37:g.40154517G>T	ENSP00000261435:p.Ser1754Ile						p.S1754I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			17	5677	+			1754			Smr.		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.5261G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611447|3.611447	0.66558|0.66558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18810|.	2.19|.	5.83|5.83	0.364|0.364	0.16124|0.16124	Smr protein/MutS2 C-terminal (2);|.	0.428284|.	0.26359|.	N|.	0.024835|.	T|.	0.34513|.	0.0900|.	L|L	0.33137|0.33137	0.985|0.985	0.29688|0.29688	N|N	0.84114|0.84114	P;P|.	0.47409|.	0.872;0.895|.	P;P|.	0.57425|.	0.726;0.82|.	T|.	0.35674|.	-0.9779|.	10|.	0.72032|.	D|.	0.01|.	-0.0705|-0.0705	10.509|10.509	0.44851|0.44851	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	1737;1754|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	1754;1674|1383	ENSP00000261435:S1754I|.	ENSP00000261435:S1754I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39830912|39830912	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.982000|0.982000	0.71751|0.71751	1.585000|1.585000	0.36600|0.36600	0.078000|0.078000	0.16900|0.16900	0.655000|0.655000	0.94253|0.94253	AGC|TAG		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		46	239	1	0	2.68985e-26	1	3.09749e-26	46	239					T	40154517	G	T	40154517	3	4	79	1	0	0	0	0	1	0	0	0	10151	971	34	3	5319	3	N4BP2	4	40154517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15889	40154517	150999759	5200	15517											
RHOH	399	broad.mit.edu	37	chr4	40245060	40245060	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctgctgtggggaaaacCtctctgttggtgcgcttcac	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	18					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(52-54)acC>acA		ras homolog family member H							216	166	183					4																	40245060		2203	4300	6503	SO:0001819	synonymous_variant	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245060C>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"ras homolog gene family, member H"	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.54C>A	4.37:g.40245060C>A						RHOH_ENST00000505618.1_Silent_p.T18T	p.T18T	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	778	+			18						Silent	SNP	ENST00000381799.5	37	c.54C>A	CCDS3458.1																																																																																				0.562	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		58	275	1	0	3.40165e-17	1	3.75177e-17	58	275					A	40245060	C	A	40245060	2	1	79	1	0	0	0	0	0	0	0	1	13390	668	24	3		3	RHOH	4	40245060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90543	40245060	150909216	5201	15518											
RHOH	399	broad.mit.edu	37	chr4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagggcctcctgcgtcaatGccatggaagggaagaaactg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	133					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(397-399)Gcc>Tcc		ras homolog family member H							52	54	54					4																	40245403		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245403G>T	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"ras homolog gene family, member H"	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.397G>T	4.37:g.40245403G>T	ENSP00000371219:p.Ala133Ser					RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	p.A133S	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	1121	+			133						Missense_Mutation	SNP	ENST00000381799.5	37	c.397G>T	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029282	0.08054	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.76839	-1.05;-1.05	5.92	4.0	0.46444	Small GTP-binding protein domain (1);	0.326387	0.33346	N	0.005007	T	0.54565	0.1866	N	0.05230	-0.09	0.28632	N	0.907628	B	0.02656	0.0	B	0.08055	0.003	T	0.44498	-0.9324	10	0.33940	T	0.23	.	8.8676	0.35296	0.0:0.2369:0.4532:0.3098	.	133	Q15669	RHOH_HUMAN	S	133	ENSP00000425010:A133S;ENSP00000371219:A133S	ENSP00000371219:A133S	A	+	1	0	RHOH	39921798	0.604000	0.26932	0.978000	0.43139	0.164000	0.22412	-0.014000	0.12656	2.810000	0.96702	0.585000	0.79938	GCC		0.602	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		53	274	1	0	3.07002e-29	1	3.58444e-29	53	274					T	40245403	G	T	40245403	3	4	79	1	0	0	0	0	1	0	0	0	13390	1319	46	3	399	3	RHOH	4	40245403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	40245403	150908873	5202	15519											
CHRNA9	55584	broad.mit.edu	37	chr4	40351187	40351187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtgatctcctatggCtgctgctctgagccttaccc	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	218					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)			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)	TCTCCTATGGCTGCTGCTCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(652-654)ggC>ggT		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						267	244	252					4																	40351187		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351187C>T	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.654C>T	4.37:g.40351187C>T							p.G218G	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	793	+			218					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.654C>T	CCDS3459.1																																																																																				0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			279	1276	0	0	0	1	0	279	1276					T	40351187	C	T	40351187	2	4	79	1	0	0	0	0	0	0	0	1	3398	784	28	2		2	CHRNA9	4	40351187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105784	40351187	150803089	5203	15520											
RBM47	54502	broad.mit.edu	37	chr4	40440179	40440179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgtagaggatcttcacGgtctccatcacgtcctcgtc	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000381793.2	-	3	1128	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	244					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(730-732)acC>acT		RNA binding motif protein 47							132	108	116					4																	40440179		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440179G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.732C>T	4.37:g.40440179G>A						RBM47_ENST00000381793.2_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000381795.6_Silent_p.T244T|RBM47_ENST00000514014.1_Silent_p.T206T	p.T244T			A0AV96	RBM47_HUMAN			4	1441	-			244					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.732C>T	CCDS43223.1																																																																																				0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		115	503	0	0	0	1	0	115	503					A	40440179	G	A	40440179	2	1	79	1	0	0	0	0	0	0	0	1	13191	1103	39	1		1	RBM47	4	40440179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88992	40440179	150714097	5204	15521											
RBM47	54502	broad.mit.edu	37	chr4	40440380	40440380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacgatcacgtccagcacGccctcggtgaccttggcaat	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000381793.2	-	3	927	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000319592.4_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(529-531)ggC>ggT		RNA binding motif protein 47							71	63	66					4																	40440380		2203	4299	6502	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440380G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.531C>T	4.37:g.40440380G>A						RBM47_ENST00000381793.2_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000381795.6_Silent_p.G177G|RBM47_ENST00000514014.1_Silent_p.G139G	p.G177G			A0AV96	RBM47_HUMAN			4	1240	-			177			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.531C>T	CCDS43223.1																																																																																				0.632	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		34	633	0	0	0	1	0	34	633					A	40440380	G	A	40440380	2	1	79	1	0	0	0	0	0	0	0	1	13191	1074	38	1		1	RBM47	4	40440380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	40440380	150713896	5205	15522											
RBM47	54502	broad.mit.edu	37	chr4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T													gcggatctcgtagttgttgaGctcacgcactgcgcgcttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000381793.2	-	3	787	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	131	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(391-393)Ctc>Atc		RNA binding motif protein 47							57	48	51					4																	40440520		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440520G>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.391C>A	4.37:g.40440520G>T	ENSP00000371212:p.Leu131Ile					RBM47_ENST00000381793.2_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I|RBM47_ENST00000514014.1_Missense_Mutation_p.L93I	p.L131I			A0AV96	RBM47_HUMAN			4	1100	-			131			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.391C>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219834	0.79464	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.57436	1.75;0.4;1.75;0.4;0.4;1.75;0.4;0.4;0.4	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.65975	2.015	0.80722	D	1	D;P	0.61697	0.99;0.933	D;D	0.72982	0.979;0.928	T	0.73414	-0.3990	10	0.59425	D	0.04	-25.2838	19.2511	0.93926	0.0:0.0:1.0:0.0	.	131;131	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	131;131;131;131;93;131;131;131;131	ENSP00000320108:L131I;ENSP00000371212:L131I;ENSP00000371214:L131I;ENSP00000295971:L131I;ENSP00000423243:L93I;ENSP00000422564:L131I;ENSP00000421589:L131I;ENSP00000423527:L131I;ENSP00000426542:L131I	ENSP00000295971:L131I	L	-	1	0	RBM47	40135277	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.888000	0.87302	2.554000	0.86153	0.313000	0.20887	CTC		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		25	343	1	0	2.98393e-07	1	3.0958e-07	25	343					T	40440520	G	T	40440520	3	4	79	1	0	0	0	0	1	0	0	0	13191	971	34	3	1406	3	RBM47	4	40440520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	40440520	150713756	5206	15523	93	2									
RBM47	54502	broad.mit.edu	37	chr4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A													ctcgtagttgttgagctcacGcactgcgcgcttggcctcgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000381793.2	-	3	781	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(385-387)Cgt>Tgt		RNA binding motif protein 47							59	50	53					4																	40440526		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440526G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.385C>T	4.37:g.40440526G>A	ENSP00000371212:p.Arg129Cys					RBM47_ENST00000381793.2_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C|RBM47_ENST00000514014.1_Missense_Mutation_p.R91C	p.R129C			A0AV96	RBM47_HUMAN			4	1094	-			129			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.385C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026464	0.54683	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.44	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.024	D;B	0.63703	0.917;0.075	T	0.06534	-1.0821	10	0.87932	D	0	-17.4793	13.1056	0.59246	0.0:0.0:0.6489:0.3511	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129C;ENSP00000371212:R129C;ENSP00000371214:R129C;ENSP00000295971:R129C;ENSP00000423243:R91C;ENSP00000422564:R129C;ENSP00000421589:R129C;ENSP00000423527:R129C;ENSP00000426542:R129C	ENSP00000295971:R129C	R	-	1	0	RBM47	40135283	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.959000	0.56744	2.554000	0.86153	0.313000	0.20887	CGT		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		64	312	0	0	0	1	0	64	312					A	40440526	G	A	40440526	3	1	79	1	0	0	0	0	1	0	0	0	13191	1087	38	1	1412	1	RBM47	4	40440526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40440526	150713750	5207	15524	93	2									
NSUN7	79730	broad.mit.edu	37	chr4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtttataataatttgaaGagaagaggctataataaagt	9	1	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000381782.2	+	6	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	223							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(667-669)aaG>aaT		NOP2/Sun domain family, member 7							60	69	66					4																	40776811		2197	4266	6463	SO:0001583	missense	79730							g.chr4:40776811G>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.669G>T	4.37:g.40776811G>T	ENSP00000371201:p.Lys223Asn					NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N	p.K223N	NM_024677.4	NP_078953.3					6	1164	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.669G>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890198	0.52014	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.27	4.43	0.53597	.	0.255535	0.43416	D	0.000572	T	0.16769	0.0403	L	0.58810	1.83	0.37223	D	0.905312	P;B;P	0.44946	0.846;0.404;0.842	B;B;P	0.45971	0.372;0.376;0.499	T	0.07233	-1.0783	10	0.41790	T	0.15	-11.7078	13.5116	0.61515	0.0758:0.0:0.9242:0.0	.	223;223;223	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	223	ENSP00000371201:K223N;ENSP00000319127:K223N	ENSP00000319127:K223N	K	+	3	2	NSUN7	40471568	1.000000	0.71417	0.822000	0.32727	0.942000	0.58702	2.565000	0.45939	1.351000	0.45789	0.655000	0.94253	AAG		0.289	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		27	354	1	0	8.58068e-18	1	9.49213e-18	27	354					T	40776811	G	T	40776811	3	4	79	1	0	0	0	0	1	0	0	0	10725	933	33	3	687	3	NSUN7	4	40776811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336285	40776811	150377465	5208	15525											
NSUN7	79730	broad.mit.edu	37	chr4	40776916	40776916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttccatctcatcttaaAaatgatcttataaatataga	2	6	3	2	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000381782.2	+	6	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	258							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(772-774)aaA>aaG		NOP2/Sun domain family, member 7							38	42	41					4																	40776916		2189	4268	6457	SO:0001819	synonymous_variant	79730							g.chr4:40776916A>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.774A>G	4.37:g.40776916A>G						NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.K258K	p.K258K	NM_024677.4	NP_078953.3					6	1269	+								C9JI19|Q8N9K8|Q9H815	Silent	SNP	ENST00000381782.2	37	c.774A>G	CCDS3461.2																																																																																				0.284	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		35	144	0	0	0	1	0	35	144					G	40776916	A	G	40776916	2	3	79	1	0	0	0	0	0	0	0	1	10725	11	1	4		4	NSUN7	4	40776916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105	40776916	150377360	5209	15526											
APBB2	323	broad.mit.edu	37	chr4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgctggtgtgtcacatcGaaatacatgacatttcaaaa	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1585-1587)Cga>Tga		amyloid beta (A4) precursor protein-binding, family B, member 2							130	126	128					4																	40832536		1949	4142	6091	SO:0001587	stop_gained	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40832536G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1585C>T	4.37:g.40832536G>A	ENSP00000295974:p.Arg529*					APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*	p.R529*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			13	2214	-			529			PID 1.		B4DSL4|E9PG87|Q8IUI6	Nonsense_Mutation	SNP	ENST00000295974.8	37	c.1585C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.202208|12.202208	0.99646|0.99646	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510|ENST00000513611	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.124247|.	0.56097|.	D|.	0.000027|.	.|T	.|0.75102	.|0.3804	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73493	.|-0.3965	.|4	0.02654|.	T|.	1|.	-7.3436|-7.3436	19.2746|19.2746	0.94026|0.94026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	529;528;508;530;508;43|498	.|.	ENSP00000295974:R529X|.	R|S	-|-	1|2	2|0	APBB2|APBB2	40527293|40527293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.565000|2.565000	0.86533|0.86533	0.491000|0.491000	0.48974|0.48974	CGA|TCG		0.433	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		57	330	0	0	0	1	0	57	330					A	40832536	G	A	40832536	4	1	79	1	0	0	0	0	0	1	0	0	761	1066	37	1	715	1	APBB2	4	40832536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55620	40832536	150321740	5210	15527											
PHOX2B	8929	broad.mit.edu	37	chr4	41749444	41749444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggggtagtgagtctccgcGaagaccctttccagctcttt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	117					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"Mis, F"	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(349-351)ttC>ttT		paired-like homeobox 2b							62	67	65					4																	41749444		2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41749444G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.351C>T	4.37:g.41749444G>A							p.F117F	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			2	710	-			117					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.351C>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100723	0.06967	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	3.64	0.41730	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57423	-0.7814	4	.	.	.	.	9.8978	0.41329	0.2116:0.0:0.7884:0.0	.	.	.	.	L	57	.	.	S	-	2	0	PHOX2B	41444201	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.949000	0.29109	1.503000	0.48686	0.655000	0.94253	TCG		0.622	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			74	451	0	0	0	1	0	74	451					A	41749444	G	A	41749444	2	1	79	1	0	0	0	0	0	0	0	1	11901	1049	37	1		1	PHOX2B	4	41749444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916908	41749444	149404832	5211	15528											
SHISA3	152573	broad.mit.edu	37	chr4	42403028	42403028	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctgtttttgccttttaGagcctgtctacgtccccttt	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3						multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.e2-1		shisa family member 3							179	179	179					4																	42403028		2203	4300	6503	SO:0001630	splice_region_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403028G>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.278-1G>T	4.37:g.42403028G>T								NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	495	+								A0PJX3|Q96EQ5	Splice_Site	SNP	ENST00000319234.4	37		CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980950	0.74474	.	.	ENSG00000178343	ENST00000319234	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA3	42097785	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.582000	0.87167	0.655000	0.94253	.		0.488	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505	Intron	143	639	1	0	3.68518e-59	1	4.62544e-59	143	639					T	42403028	G	T	42403028	5	4	79	1	0	0	0	0	0	0	1	0	14331	956	33	3	283	3	SHISA3	4	42403028	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653584	42403028	148751248	5212	15529											
SHISA3	152573	broad.mit.edu	37	chr4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggctctgtagtggCtatttattgttgcacctgtt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	117					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(349-351)gCt>gTt		shisa family member 3							224	227	226					4																	42403101		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403101C>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.350C>T	4.37:g.42403101C>T	ENSP00000326445:p.Ala117Val						p.A117V	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	568	+			117					A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.350C>T	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451952	0.84209	.	.	ENSG00000178343	ENST00000319234	T	0.39997	1.05	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67662	-0.5613	10	0.52906	T	0.07	-5.562	17.9622	0.89089	0.0:1.0:0.0:0.0	.	117	A0PJX4	SHSA3_HUMAN	V	117	ENSP00000326445:A117V	ENSP00000326445:A117V	A	+	2	0	SHISA3	42097858	1.000000	0.71417	0.958000	0.39756	0.399000	0.30720	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCT		0.512	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		296	1177	0	0	0	1	0	296	1177					T	42403101	C	T	42403101	3	4	79	1	0	0	0	0	1	0	0	0	14331	797	28	2	356	2	SHISA3	4	42403101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	42403101	148751175	5213	15530											
ATP8A1	10396	broad.mit.edu	37	chr4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgttcttgagcagttgcGccctctcggtcaggctgcag	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1107					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.A1107V(1)|p.A1092V(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)	GAGCAGTTGCGCCCTCTCGGT	0.473																																						ENST00000381668.5																			2	Substitution - Missense(2)	p.A1107V(1)|p.A1092V(1)	endometrium(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						c.(3319-3321)gCg>gTg		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						116	108	111					4																	42416721		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.chr4:42416721G>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.3320C>T	4.37:g.42416721G>A	ENSP00000371084:p.Ala1107Val					ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	p.A1107V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			36	3551	-			1107					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3320C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684706	0.68157	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61859	0.07;0.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.73217	2.22	0.80722	D	1	B;B;P	0.36222	0.181;0.343;0.544	B;B;B	0.21360	0.011;0.034;0.034	T	0.57728	-0.7761	10	0.33940	T	0.23	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1092;1107;1099	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1107;1092	ENSP00000371084:A1107V;ENSP00000264449:A1092V	ENSP00000264449:A1092V	A	-	2	0	ATP8A1	42111478	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.766000	0.91728	2.636000	0.89361	0.557000	0.71058	GCG		0.473	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		87	374	0	0	0	1	0	87	374					A	42416721	G	A	42416721	3	1	79	1	0	0	0	0	1	0	0	0	1193	1087	38	1	182	1	ATP8A1	4	42416721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13620	42416721	148737555	5214	15531											
ATP8A1	10396	broad.mit.edu	37	chr4	42577717	42577717	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagtgcatgtcaagatcCtttaataaaattaagtaaat	5	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42577717C>A	ENST00000381668.5	-	13	1360		c.e13-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						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)			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)	TGTCAAGATCCTTTAATAAAA	0.338																																						ENST00000381668.5																			0				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						c.e13-1		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						148	154	152					4																	42577717		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:42577717C>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.1129-1G>T	4.37:g.42577717C>A						ATP8A1_ENST00000264449.10_Splice_Site		NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			13	1360	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37		CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724430	0.89298	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42272474	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.707000	0.84623	2.885000	0.99019	0.655000	0.94253	.		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	90	477	1	0	4.85238e-36	1	5.80295e-36	90	477					A	42577717	C	A	42577717	5	1	79	1	0	0	0	0	0	0	1	0	1193	695	24	3	2466	3	ATP8A1	4	42577717	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160996	42577717	148576559	5215	15532											
ATP8A1	10396	broad.mit.edu	37	chr4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttttccagaatgccttcGattccaaatggctgagccca	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	321					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)			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)	GAATGCCTTCGATTCCAAATG	0.343																																						ENST00000381668.5																			0				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						c.(961-963)Cga>Tga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						74	74	74					4																	42581869		2203	4300	6503	SO:0001587	stop_gained	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.chr4:42581869G>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.961C>T	4.37:g.42581869G>A	ENSP00000371084:p.Arg321*					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			11	1192	-			321					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.961C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.732964	0.98459	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.86	5.02	0.67125	.	0.232071	0.39083	N	0.001465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6965	0.45903	0.0681:0.1329:0.799:0.0	.	.	.	.	X	321	.	ENSP00000264449:R321X	R	-	1	2	ATP8A1	42276626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.511000	0.45476	1.604000	0.50143	-0.182000	0.12963	CGA		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		49	201	0	0	0	1	0	49	201					A	42581869	G	A	42581869	4	1	79	1	0	0	0	0	0	1	0	0	1193	1066	37	1	2641	1	ATP8A1	4	42581869	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	42581869	148572407	5216	15533											
ATP8A1	10396	broad.mit.edu	37	chr4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaatatcttctattatctCtttgatagctgccacagcta	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	116					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)			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)	TCTATTATCTCTTTGATAGCT	0.264																																						ENST00000381668.5																			0				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						c.(346-348)Gag>Tag		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						39	41	41					4																	42626570		2203	4297	6500	SO:0001587	stop_gained	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.chr4:42626570C>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.346G>T	4.37:g.42626570C>A	ENSP00000371084:p.Glu116*					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			4	577	-			116					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.346G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813806	0.97857	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8683	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000264449:E116X	E	-	1	0	ATP8A1	42321327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.753000	0.94483	0.655000	0.94253	GAG		0.264	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		19	174	1	0	1.37657e-19	1	1.53676e-19	19	174					A	42626570	C	A	42626570	4	1	79	1	0	0	0	0	0	1	0	0	1193	922	32	3	3362	3	ATP8A1	4	42626570	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44701	42626570	148527706	5217	15534											
GRXCR1	389207	broad.mit.edu	37	chr4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctctatttaacaattTgaccaaagtattacaggtaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	123					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(367-369)tTg>tCg		glutaredoxin, cysteine rich 1							100	99	99					4																	42895651		1925	4126	6051	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895651T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.368T>C	4.37:g.42895651T>C	ENSP00000382670:p.Leu123Ser						p.L123S	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	368	+			123						Missense_Mutation	SNP	ENST00000399770.2	37	c.368T>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111100	0.56398	.	.	ENSG00000215203	ENST00000399770	T	0.21191	2.02	5.87	5.87	0.94306	.	0.000000	0.56097	U	0.000023	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.09796	-1.0658	10	0.38643	T	0.18	-9.0137	15.4474	0.75240	0.0:0.0:0.0:1.0	.	123	A8MXD5	GRCR1_HUMAN	S	123	ENSP00000382670:L123S	ENSP00000382670:L123S	L	+	2	0	GRXCR1	42590408	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.693000	0.84214	2.247000	0.74100	0.528000	0.53228	TTG		0.418	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		126	544	0	0	0	1	0	126	544					C	42895651	T	C	42895651	3	2	79	1	0	0	0	0	1	0	0	0	6842	1821	63	4	370	4	GRXCR1	4	42895651	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269081	42895651	148258625	5218	15535											
KCTD8	386617	broad.mit.edu	37	chr4	44449580	44449580	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggggctgcgaacttacGgaagaaaatgtactcggtgt	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.e1+1		potassium channel tetramerization domain containing 8							19	17	17					4																	44449580		2198	4300	6498	SO:0001630	splice_region_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449580G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.961+1C>T	4.37:g.44449580G>A		HNSCC(17;0.042)					p.R321_splice	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1244	-			321					A2RU39	Splice_Site	SNP	ENST00000360029.3	37	c.961_splice	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	40	8.116172	0.98662	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.27	3.33	0.38152	.	0.146450	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2831	0.37740	0.0:0.0:0.6078:0.3922	.	.	.	.	X	321	.	.	R	-	1	2	KCTD8	44144337	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.944000	0.40263	2.214000	0.71695	0.591000	0.81541	CGA		0.662	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		Nonsense_Mutation	20	84	0	0	0	1	0	20	84					A	44449580	G	A	44449580	5	1	79	1	0	0	0	0	0	0	1	0	8145	1130	39	1	468	1	KCTD8	4	44449580	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553929	44449580	146704696	5219	15536											
GUF1	60558	broad.mit.edu	37	chr4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgttattttaacaaCccctactgttccatataaag	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1285-1287)aCc>aTc		GUF1 GTPase homolog (S. cerevisiae)							103	103	103					4																	44691943		2202	4299	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44691943C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1286C>T	4.37:g.44691943C>T	ENSP00000281543:p.Thr429Ile					GUF1_ENST00000506793.1_3'UTR	p.T429I	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			11	1480	+			429						Missense_Mutation	SNP	ENST00000281543.5	37	c.1286C>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255489	0.59321	.	.	ENSG00000151806	ENST00000281543	T	0.69175	-0.38	5.76	5.76	0.90799	Elongation factor G/III/V (1);	0.159713	0.56097	D	0.000023	T	0.53367	0.1792	N	0.24115	0.695	0.37388	D	0.912331	P	0.36222	0.544	B	0.26517	0.07	T	0.63462	-0.6632	10	0.87932	D	0	-11.5246	19.3309	0.94288	0.0:1.0:0.0:0.0	.	429	Q8N442	GUF1_HUMAN	I	429	ENSP00000281543:T429I	ENSP00000281543:T429I	T	+	2	0	GUF1	44386700	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.649000	0.67936	2.880000	0.98712	0.650000	0.86243	ACC		0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		63	329	0	0	0	1	0	63	329					T	44691943	C	T	44691943	3	4	79	1	0	0	0	0	1	0	0	0	6929	507	18	2	1328	2	GUF1	4	44691943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242363	44691943	146462333	5220	15537											
GABRG1	2565	broad.mit.edu	37	chr4	46060235	46060235	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatattacatgtcataccCaacgatgttcttgcaggcac	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	ENST00000295452.4	-	7	1082	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	305					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGTCATACCCAACGATGTTC	0.318																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.e7+1		gamma-aminobutyric acid (GABA) A receptor, gamma 1							81	79	79					4																	46060235		2203	4300	6503	SO:0001630	splice_region_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060235C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.916+1G>A	4.37:g.46060235C>T							p.L305_splice	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	1082	-			305					Q5H9T8	Splice_Site	SNP	ENST00000295452.4	37	c.916_splice	CCDS3470.1																																																																																				0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Silent	45	233	0	0	0	1	0	45	233					T	46060235	C	T	46060235	5	4	79	1	0	0	0	0	0	0	1	0	6198	608	21	2	494	2	GABRG1	4	46060235	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368292	46060235	145094041	5221	15538											
GABRA2	2555	broad.mit.edu	37	chr4	46252622	46252622	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acggaagccttttcttttttCtattgaaaaatacaaaaatt	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTCTTTTTTCTATTGAAAAA	0.368																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.e10-1		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48	50	49					4																	46252622		2203	4298	6501	SO:0001630	splice_region_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252622C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1060-1G>T	4.37:g.46252622C>A						GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site				P47869	GBRA2_HUMAN			10	1233	-								A8K0U7|B7Z1H8|Q59G14	Splice_Site	SNP	ENST00000510861.1	37		CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776042	0.70107	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	45947379	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.647000	0.46639	2.827000	0.97445	0.655000	0.94253	.		0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		Intron	58	295	1	0	4.46115e-38	1	5.36847e-38	58	295					A	46252622	C	A	46252622	5	1	79	1	0	0	0	0	0	0	1	0	6188	927	32	3	300	3	GABRA2	4	46252622	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192387	46252622	144901654	5222	15539											
GABRA4	2557	broad.mit.edu	37	chr4	46930511	46930511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccaactgaagcctttcGaggcatatatccagttcgga	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930511G>A	ENST00000264318.3	-	9	2378	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	466					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGCCTTTCGAGGCATATAT	0.468																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1396-1398)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111	102	105					4																	46930511		2203	4300	6503	SO:0001587	stop_gained	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930511G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1396C>T	4.37:g.46930511G>A	ENSP00000264318:p.Arg466*						p.R466*	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2378	-			466					Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	c.1396C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	40	8.322356	0.98759	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.64	0.869	0.19096	.	35.111300	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3934	0.32542	0.0733:0.0:0.4515:0.4752	.	.	.	.	X	466	.	ENSP00000264318:R466X	R	-	1	2	GABRA4	46625268	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.507000	0.22675	0.036000	0.15547	-0.175000	0.13238	CGA		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			38	377	0	0	0	1	0	38	377					A	46930511	G	A	46930511	4	1	79	1	0	0	0	0	0	1	0	0	6190	1066	37	1	272	1	GABRA4	4	46930511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677889	46930511	144223765	5223	15540											
GABRA4	2557	broad.mit.edu	37	chr4	46930552	46930552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagtaggagaagcagatGgaagtgctcttgctgcagat	14	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930552G>A	ENST00000264318.3	-	9	2337	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	452					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAGCAGATGGAAGTGCTCT	0.478																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1354-1356)cCa>cTa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						115	103	107					4																	46930552		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930552G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1355C>T	4.37:g.46930552G>A	ENSP00000264318:p.Pro452Leu						p.P452L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2337	-			452					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1355C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957640	0.18507	.	.	ENSG00000109158	ENST00000264318	D	0.82344	-1.6	5.82	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.163590	0.01097	N	0.005286	T	0.79197	0.4405	L	0.50333	1.59	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.57075	-0.7873	10	0.09084	T	0.74	.	8.5622	0.33518	0.0761:0.0:0.7721:0.1517	.	452	P48169	GBRA4_HUMAN	L	452	ENSP00000264318:P452L	ENSP00000264318:P452L	P	-	2	0	GABRA4	46625309	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	4.095000	0.57728	0.790000	0.33803	0.650000	0.86243	CCA		0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			84	324	0	0	0	1	0	84	324					A	46930552	G	A	46930552	3	1	79	1	0	0	0	0	1	0	0	0	6190	1348	47	2	313	2	GABRA4	4	46930552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	46930552	144223724	5224	15541											
GABRA4	2557	broad.mit.edu	37	chr4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcaaattggcatttGtattctgaaaaggtatatga	8	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	380					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGCATTTGTATTCTGAAA	0.308																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1138-1140)aCa>aTa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						32	34	33					4																	46930768		2201	4295	6496	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930768G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1139C>T	4.37:g.46930768G>A	ENSP00000264318:p.Thr380Ile						p.T380I	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2121	-			380					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1139C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536456	0.13188	.	.	ENSG00000109158	ENST00000264318	D	0.85861	-2.04	5.61	3.89	0.44902	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.336666	0.12855	U	0.433617	T	0.78039	0.4221	L	0.40543	1.245	0.30491	N	0.771401	B	0.06786	0.001	B	0.10450	0.005	T	0.67499	-0.5655	10	0.20519	T	0.43	.	9.7323	0.40368	0.1585:0.0:0.8415:0.0	.	380	P48169	GBRA4_HUMAN	I	380	ENSP00000264318:T380I	ENSP00000264318:T380I	T	-	2	0	GABRA4	46625525	1.000000	0.71417	0.015000	0.15790	0.207000	0.24258	2.705000	0.47127	0.744000	0.32741	0.655000	0.94253	ACA		0.308	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			42	149	0	0	0	1	0	42	149					A	46930768	G	A	46930768	3	1	79	1	0	0	0	0	1	0	0	0	6190	1377	48	2	529	2	GABRA4	4	46930768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	46930768	144223508	5225	15542											
GABRA4	2557	broad.mit.edu	37	chr4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagctggaagactccttcGgaacttcaactgatttctca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P215L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACTCCTTCGGAACTTCAAC	0.393																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			1	Substitution - Missense(1)	p.P215L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(643-645)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						116	107	110					4																	46976326		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46976326G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.644C>T	4.37:g.46976326G>A	ENSP00000264318:p.Pro215Leu						p.P215L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			6	1626	-			215					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.644C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118152	0.94385	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85239	0.1037	10	0.62326	D	0.03	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	215	P48169	GBRA4_HUMAN	L	215	ENSP00000264318:P215L	ENSP00000264318:P215L	P	-	2	0	GABRA4	46671083	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CCG		0.393	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			69	307	0	0	0	1	0	69	307					A	46976326	G	A	46976326	3	1	79	1	0	0	0	0	1	0	0	0	6190	1116	39	1	1036	1	GABRA4	4	46976326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45558	46976326	144177950	5226	15543											
GABRA4	2557	broad.mit.edu	37	chr4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaggggtccacactttcGttaccatcatattgttcaat	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	125					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCACACTTTCGTTACCATCAT	0.358																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(373-375)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						106	103	104					4																	46979547		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979547G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.374C>T	4.37:g.46979547G>A	ENSP00000264318:p.Thr125Met						p.T125M	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			4	1356	-			125					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.374C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500609	0.64298	.	.	ENSG00000109158	ENST00000264318	T	0.78003	-1.14	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101631	0.64402	D	0.000003	T	0.68632	0.3022	N	0.14661	0.345	0.38479	D	0.947676	P	0.45986	0.87	P	0.46237	0.508	T	0.75755	-0.3206	10	0.87932	D	0	.	13.8844	0.63699	0.0:0.1523:0.8477:0.0	.	125	P48169	GBRA4_HUMAN	M	125	ENSP00000264318:T125M	ENSP00000264318:T125M	T	-	2	0	GABRA4	46674304	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	2.977000	0.49297	2.776000	0.95493	0.650000	0.86243	ACG		0.358	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			60	246	0	0	0	1	0	60	246					A	46979547	G	A	46979547	3	1	79	1	0	0	0	0	1	0	0	0	6190	1145	40	1	1314	1	GABRA4	4	46979547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3221	46979547	144174729	5227	15544											
GABRA4	2557	broad.mit.edu	37	chr4	46995361	46995361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagaactcaccaaacCgccaggcacaggaagcgcag	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	27					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACCAAACCGCCAGGCACA	0.607																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(79-81)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104	101	102					4																	46995361		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46995361C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.81G>A	4.37:g.46995361C>T						GABRA4_ENST00000509316.1_5'UTR	p.A27A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			1	1063	-			27					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.81G>A	CCDS3473.1																																																																																				0.607	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			121	680	0	0	0	1	0	121	680					T	46995361	C	T	46995361	2	4	79	1	0	0	0	0	0	0	0	1	6190	639	23	1		1	GABRA4	4	46995361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15814	46995361	144158915	5228	15545											
GABRB1	2560	broad.mit.edu	37	chr4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgaccaactctgggtaCcagacacctactttctgaat	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	119					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCTGGGTACCAGACACCTA	0.438																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(355-357)Cca>Tca		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						153	151	152					4																	47163380		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163380C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.355C>T	4.37:g.47163380C>T	ENSP00000295454:p.Pro119Ser					GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	p.P119S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			4	647	+			119					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.355C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294940	0.81025	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.98550	-4.99;-4.99;-4.99	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080817	0.50627	D	0.000119	D	0.99162	0.9710	H	0.95574	3.69	0.58432	D	0.999999	D;P	0.69078	0.997;0.573	D;B	0.70487	0.969;0.334	D	0.98945	1.0792	10	0.87932	D	0	-9.8015	12.9232	0.58245	0.0:0.9191:0.0:0.0809	.	49;119	F5GXV5;P18505	.;GBRB1_HUMAN	S	86;119;49	ENSP00000426753:P86S;ENSP00000295454:P119S;ENSP00000440330:P49S	ENSP00000295454:P119S	P	+	1	0	GABRB1	46858137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.611000	0.88343	0.650000	0.86243	CCA		0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			132	592	0	0	0	1	0	132	592					T	47163380	C	T	47163380	3	4	79	1	0	0	0	0	1	0	0	0	6193	507	18	2	369	2	GABRB1	4	47163380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168019	47163380	143990896	5229	15546											
GABRB1	2560	broad.mit.edu	37	chr4	47427969	47427969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccatagacaagtggtcCcgaatgtttttccccatcac	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAAGTGGTCCCGAATGTTTT	0.483																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1357-1359)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						112	108	109					4																	47427969		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427969C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1359C>T	4.37:g.47427969C>T						GABRB1_ENST00000538619.1_Silent_p.S383S	p.S453S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1651	+			453					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1359C>T	CCDS3474.1																																																																																				0.483	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			126	760	0	0	0	1	0	126	760					T	47427969	C	T	47427969	2	4	79	1	0	0	0	0	0	0	0	1	6193	610	22	2		2	GABRB1	4	47427969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264589	47427969	143726307	5230	15547											
COMMD8	54951	broad.mit.edu	37	chr4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagctgtgcagaggaaataGcaactatttctcttgacaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	111										large_intestine(2)|lung(5)|prostate(1)	8						AGAGGAAATAGCAACTATTTC	0.333																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(331-333)gCt>gAt		COMM domain containing 8							168	178	175					4																	47458637		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47458637G>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.332C>A	4.37:g.47458637G>T	ENSP00000370984:p.Ala111Asp						p.A111D	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			3	399	-			111					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.332C>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273965	0.05679	.	.	ENSG00000169019	ENST00000381571	T	0.09255	3.0	5.82	-2.66	0.06077	.	0.478103	0.26007	N	0.026901	T	0.04634	0.0126	N	0.16903	0.455	0.30636	N	0.756965	B	0.13594	0.008	B	0.16289	0.015	T	0.45264	-0.9273	10	0.09338	T	0.73	-15.396	9.0728	0.36502	0.0:0.2362:0.544:0.2199	.	111	Q9NX08	COMD8_HUMAN	D	111	ENSP00000370984:A111D	ENSP00000370984:A111D	A	-	2	0	COMMD8	47153394	0.828000	0.29307	0.959000	0.39883	0.793000	0.44817	0.370000	0.20433	-0.359000	0.08150	-0.410000	0.06199	GCT		0.333	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		18	725	1	0	1.96292e-10	1	2.08093e-10	18	725					T	47458637	G	T	47458637	3	4	79	1	0	0	0	0	1	0	0	0	3731	971	34	3	231	3	COMMD8	4	47458637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30668	47458637	143695639	5231	15548											
ATP10D	57205	broad.mit.edu	37	chr4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggggggttgcccattaAgtctttggaagagattaaaa	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	620					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGCCCATTAAGTCTTTGGAA	0.423																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1858-1860)aAg>aCg		ATPase, class V, type 10D							44	48	46					4																	47559715		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559715A>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1859A>C	4.37:g.47559715A>C	ENSP00000273859:p.Lys620Thr					AC092597.3_ENST00000508081.1_RNA	p.K620T	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2128	+			620					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1859A>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	4.975	0.181158	0.09443	.	.	ENSG00000145246	ENST00000273859	T	0.39406	1.08	5.48	2.82	0.32997	HAD-like domain (1);	0.217737	0.46145	D	0.000317	T	0.23572	0.0570	N	0.25286	0.73	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.04946	-1.0916	10	0.08179	T	0.78	-19.5022	8.3194	0.32119	0.7755:0.1404:0.0841:0.0	.	620	Q9P241	AT10D_HUMAN	T	620	ENSP00000273859:K620T	ENSP00000273859:K620T	K	+	2	0	ATP10D	47254472	1.000000	0.71417	0.951000	0.38953	0.020000	0.10135	4.235000	0.58666	0.875000	0.35847	-0.366000	0.07423	AAG		0.423	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		61	236	0	0	0	1	0	61	236					C	47559715	A	C	47559715	3	2	79	1	0	0	0	0	1	0	0	0	1119	72	3	4	1901	4	ATP10D	4	47559715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	101078	47559715	143594561	5232	15549											
ATP10D	57205	broad.mit.edu	37	chr4	47560058	47560058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacgaagcggccttagtGtatgccgccagggcttacca	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	734					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGCCTTAGTGTATGCCGCCA	0.557																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2200-2202)gtG>gtA		ATPase, class V, type 10D							93	80	84					4																	47560058		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47560058G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2202G>A	4.37:g.47560058G>A						AC092597.3_ENST00000508081.1_RNA	p.V734V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2471	+			734					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2202G>A	CCDS3476.1																																																																																				0.557	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		55	269	0	0	0	1	0	55	269					A	47560058	G	A	47560058	2	1	79	1	0	0	0	0	0	0	0	1	1119	1364	48	2		2	ATP10D	4	47560058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	47560058	143594218	5233	15550											
ATP10D	57205	broad.mit.edu	37	chr4	47563037	47563037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccagcattgacaacagGgaagaattactacttgaatc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	871					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGACAACAGGGAAGAATTAC	0.383																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2611-2613)agG>agA		ATPase, class V, type 10D							176	163	168					4																	47563037		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47563037G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2613G>A	4.37:g.47563037G>A							p.R871R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			14	2882	+			871					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2613G>A	CCDS3476.1																																																																																				0.383	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		114	497	0	0	0	1	0	114	497					A	47563037	G	A	47563037	2	1	79	1	0	0	0	0	0	0	0	1	1119	1223	43	2		2	ATP10D	4	47563037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2979	47563037	143591239	5234	15551											
ATP10D	57205	broad.mit.edu	37	chr4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggtcatcattggtaGcatcttgtcttattttttat	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1262					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCATTGGTAGCATCTTGTCT	0.433																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3784-3786)aGc>aAc		ATPase, class V, type 10D							262	222	235					4																	47589067		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47589067G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3785G>A	4.37:g.47589067G>A	ENSP00000273859:p.Ser1262Asn						p.S1262N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			22	4054	+			1262					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3785G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406645	0.62399	.	.	ENSG00000145246	ENST00000273859	T	0.63255	-0.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91347	0.5101	10	0.87932	D	0	-6.3784	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1262	Q9P241	AT10D_HUMAN	N	1262	ENSP00000273859:S1262N	ENSP00000273859:S1262N	S	+	2	0	ATP10D	47283824	1.000000	0.71417	0.984000	0.44739	0.005000	0.04900	9.515000	0.98015	2.665000	0.90641	0.655000	0.94253	AGC		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		88	413	0	0	0	1	0	88	413					A	47589067	G	A	47589067	3	1	79	1	0	0	0	0	1	0	0	0	1119	971	34	2	3867	2	ATP10D	4	47589067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26030	47589067	143565209	5235	15552											
CORIN	10699	broad.mit.edu	37	chr4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaagtagctcaccacagtCccattcatctgaactgtctg	6	13	4	1	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	688	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCACAGTCCCATTCATCT	0.478																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2062-2064)Gac>Tac		corin, serine peptidase		C	TYR/ASP	3,4403	6.2+/-15.9	0,3,2200	200	143	163		2062	3.5	1	4	dbSNP_134	163	0,8600		0,0,4300	no	missense	CORIN	NM_006587.2	160	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	probably-damaging	688/1043	47645169	3,13003	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47645169C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2062G>T	4.37:g.47645169C>A	ENSP00000273857:p.Asp688Tyr					CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y	p.D688Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			15	2061	-			688			LDL-receptor class A 7.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2062G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268349	0.59540	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	6.17	3.55	0.40652	Speract/scavenger receptor-related (1);Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.433392	0.26601	N	0.023478	D	0.96463	0.8846	M	0.67953	2.075	0.43808	D	0.996366	D;D;D	0.76494	0.989;0.992;0.999	P;P;D	0.71870	0.905;0.879;0.975	D	0.94733	0.7911	10	0.46703	T	0.11	.	9.3009	0.37845	0.0:0.7321:0.0:0.2679	.	651;621;688	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	Y	688;549;621;651;651	ENSP00000273857:D688Y;ENSP00000425597:D549Y;ENSP00000424212:D621Y;ENSP00000425401:D651Y;ENSP00000423216:D651Y	ENSP00000273857:D688Y	D	-	1	0	CORIN	47339926	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.339000	0.33885	0.492000	0.27815	0.655000	0.94253	GAC		0.478	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			47	257	1	0	2.64894e-19	1	2.95328e-19	47	257					A	47645169	C	A	47645169	3	1	79	1	0	0	0	0	1	0	0	0	3761	855	30	3	1098	3	CORIN	4	47645169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56102	47645169	143509107	5236	15553											
CORIN	10699	broad.mit.edu	37	chr4	47788906	47788906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgaccaaaggttcaCtcccatttgatttaaaatag	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000273857.4	-	3	244	c.245G>A	c.(244-246)aGt>aAt	p.S82N	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000508498.1_De_novo_Start_OutOfFrame	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	82					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAAGGTTCACTCCCATTTGA	0.348																																						ENST00000508498.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79								corin, serine peptidase							70	65	67					4																	47788906		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788906C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.245G>A	4.37:g.47788906C>T	ENSP00000273857:p.Ser82Asn					CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000273857.4_Missense_Mutation_p.S82N|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N				Q9Y5Q5	CORIN_HUMAN			0	76	-								B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Translation_Start_Site	SNP	ENST00000273857.4	37		CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889134	0.33348	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93712	-2.74;-2.65;-3.27	4.78	3.93	0.45458	.	0.273464	0.34628	N	0.003803	D	0.89389	0.6701	N	0.20986	0.625	0.32522	N	0.53616	P;P;P	0.48764	0.915;0.888;0.627	B;P;B	0.47102	0.397;0.537;0.196	D	0.91141	0.4945	10	0.62326	D	0.03	.	11.2784	0.49180	0.0:0.8161:0.1839:0.0	.	82;82;82	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	82	ENSP00000273857:S82N;ENSP00000425401:S82N;ENSP00000423216:S82N	ENSP00000273857:S82N	S	-	2	0	CORIN	47483663	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	2.087000	0.41653	1.385000	0.46445	0.558000	0.71614	AGT		0.348	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			33	139	0	0	0	1	0	33	139					T	47788906	C	T	47788906	3	4	79	1	0	0	0	0	1	0	0	0	3761	565	20	2	2963	2	CORIN	4	47788906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143737	47788906	143365370	5237	15554											
TEC	7006	broad.mit.edu	37	chr4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacacatgctcagcagtaCgtctctactgaaatgacctt	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1393-1395)Gta>Ata		tec protein tyrosine kinase							211	186	194					4																	48147173		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147173C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1393G>A	4.37:g.48147173C>T	ENSP00000370912:p.Val465Ile					TEC_ENST00000511471.2_5'UTR	p.V465I	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			14	1550	-			465			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1393G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964254	0.18583	.	.	ENSG00000135605	ENST00000381501	D	0.82433	-1.61	5.61	-6.45	0.01914	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.303290	0.04815	N	0.435902	T	0.65365	0.2684	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52990	-0.8501	10	0.33940	T	0.23	.	11.6645	0.51366	0.0824:0.2632:0.0:0.6544	.	465	P42680	TEC_HUMAN	I	465	ENSP00000370912:V465I	ENSP00000370912:V465I	V	-	1	0	TEC	47841930	0.000000	0.05858	0.010000	0.14722	0.975000	0.68041	-3.266000	0.00534	-1.167000	0.02779	0.491000	0.48974	GTA		0.478	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			131	597	0	0	0	1	0	131	597					T	48147173	C	T	48147173	3	4	79	1	0	0	0	0	1	0	0	0	15794	536	19	1	522	1	TEC	4	48147173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358267	48147173	143007103	5238	15555											
TEC	7006	broad.mit.edu	37	chr4	48151572	48151572	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggttttcacagctcacttAcctgctgcattgtgcttatg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.e11+1		tec protein tyrosine kinase							149	142	144					4																	48151572		2203	4300	6503	SO:0001630	splice_region_variant	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48151572A>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1006+1T>C	4.37:g.48151572A>G						TEC_ENST00000511471.2_Splice_Site		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			11	1164	-								B7ZKZ6|Q3MIS5	Splice_Site	SNP	ENST00000381501.3	37		CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311049	0.40895	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEC	47846329	1.000000	0.71417	0.981000	0.43875	0.135000	0.20990	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	.		0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		Intron	46	234	0	0	0	1	0	46	234					G	48151572	A	G	48151572	5	3	79	1	0	0	0	0	0	0	1	0	15794	405	14	4	919	4	TEC	4	48151572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4399	48151572	143002704	5239	15556											
SLC10A4	201780	broad.mit.edu	37	chr4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcttatgtccctgctgGttgacggcgacatgaacctc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.V190L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617																																						ENST00000273861.4																			1	Substitution - Missense(1)	p.V190L(1)	ovary(1)	central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(568-570)Gtt>Att		solute carrier family 10, member 4							54	48	50					4																	48486146		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48486146G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.568G>A	4.37:g.48486146G>A	ENSP00000273861:p.Val190Ile						p.V190I	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			1	787	+			190					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.568G>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953974	0.73902	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.83	4.99	0.66335	.	0.111035	0.64402	D	0.000011	T	0.20170	0.0485	M	0.62723	1.935	0.44976	D	0.997994	P	0.41710	0.76	P	0.45538	0.484	T	0.00855	-1.1539	10	0.54805	T	0.06	-23.9258	17.0391	0.86483	0.0:0.1272:0.8728:0.0	.	190	Q96EP9	NTCP4_HUMAN	I	190	ENSP00000273861:V190I	ENSP00000273861:V190I	V	+	1	0	SLC10A4	48180903	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.366000	0.73095	1.460000	0.47911	0.491000	0.48974	GTT		0.617	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		67	280	0	0	0	1	0	67	280					A	48486146	G	A	48486146	3	1	79	1	0	0	0	0	1	0	0	0	14426	1261	44	2	570	2	SLC10A4	4	48486146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334574	48486146	142668130	5240	15557											
ZAR1	326340	broad.mit.edu	37	chr4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacgcctgtcctgtgacaGcactttcagcttcaaataca	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	416					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512																																						ENST00000327939.4																			0				endometrium(1)|large_intestine(4)	5						c.(1246-1248)aGc>aTc		zygote arrest 1							99	100	100					4																	48496233		2203	4300	6503	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48496233G>T	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1247G>T	4.37:g.48496233G>T	ENSP00000329803:p.Ser416Ile						p.S416I	NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN			4	1287	+			416						Missense_Mutation	SNP	ENST00000327939.4	37	c.1247G>T	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211478	0.58343	.	.	ENSG00000182223	ENST00000327939	.	.	.	5.97	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.71490	-0.4577	9	0.87932	D	0	-28.6385	15.234	0.73413	0.0672:0.0:0.9328:0.0	.	416	Q86SH2	ZAR1_HUMAN	I	416	.	ENSP00000329803:S416I	S	+	2	0	ZAR1	48190990	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	6.328000	0.72915	1.542000	0.49330	-0.140000	0.14226	AGC		0.512	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			40	344	1	0	1.30091e-30	1	1.52718e-30	40	344					T	48496233	G	T	48496233	3	4	79	1	0	0	0	0	1	0	0	0	17569	971	34	3	1261	3	ZAR1	4	48496233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10087	48496233	142658043	5241	15558											
FRYL	285527	broad.mit.edu	37	chr4	48501642	48501642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaatatatatgtaacaGtgtctgtacagggtcatctt	9	5	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000503238.1	-	61	8838	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000537810.1_Silent_p.L2947L			O94915	FRYL_HUMAN	FRY-like	2947					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGTAACAGTGTCTGTACA	0.423																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8839-8841)Ctg>Ttg		FRY-like							124	117	119					4																	48501642		1868	4112	5980	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48501642G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8839C>T	4.37:g.48501642G>A						FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000503238.1_Silent_p.L2947L|FRYL_ENST00000537810.1_Silent_p.L2947L	p.L2947L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			64	9443	-			2947					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.8839C>T	CCDS43227.1																																																																																				0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			97	349	0	0	0	1	0	97	349					A	48501642	G	A	48501642	2	1	79	1	0	0	0	0	0	0	0	1	6091	1020	36	2		2	FRYL	4	48501642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5409	48501642	142652634	5242	15559											
FRYL	285527	broad.mit.edu	37	chr4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttcaattaaagaatgAatggcagtttctatagtagt	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000503238.1	-	60	8714	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M			O94915	FRYL_HUMAN	FRY-like	2905					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTAAAGAATGAATGGCAGTTT	0.373																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8713-8715)atT>atG		FRY-like							89	87	87					4																	48502115		1826	4077	5903	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48502115A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8715T>G	4.37:g.48502115A>C	ENSP00000426064:p.Ile2905Met					FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000503238.1_Missense_Mutation_p.I2905M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M	p.I2905M	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			63	9319	-			2905					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8715T>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826638	0.71143	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25579	1.79;1.79;1.79	5.95	2.33	0.28932	.	0.071684	0.53938	U	0.000056	T	0.36303	0.0962	L	0.50333	1.59	0.54753	D	0.999988	P;P;D	0.63880	0.586;0.821;0.993	P;P;P	0.61477	0.602;0.776;0.889	T	0.04885	-1.0920	10	0.52906	T	0.07	.	8.3532	0.32314	0.7613:0.0:0.2387:0.0	.	2905;2905;295	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2905;2905;2905;295;295	ENSP00000426064:I2905M;ENSP00000351113:I2905M;ENSP00000441114:I2905M	ENSP00000264319:I295M	I	-	3	3	FRYL	48196872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.077000	0.50089	0.509000	0.28195	0.402000	0.26972	ATT		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			59	278	0	0	0	1	0	59	278					C	48502115	A	C	48502115	3	2	79	1	0	0	0	0	1	0	0	0	6091	242	9	4	334	4	FRYL	4	48502115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	473	48502115	142652161	5243	15560											
FRYL	285527	broad.mit.edu	37	chr4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaatttgtataatcttcGgcagagctccaattcctaga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000503238.1	-	59	8496	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*			O94915	FRYL_HUMAN	FRY-like	2833					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATAATCTTCGGCAGAGCTCC	0.303																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8497-8499)Cga>Tga		FRY-like							142	136	138					4																	48503735		1803	4078	5881	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503735G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8497C>T	4.37:g.48503735G>A	ENSP00000426064:p.Arg2833*					FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*	p.R2833*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			62	9101	-			2833					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.8497C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	53	20.455387	0.99931	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	4.53	0.55603	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8329	0.70162	0.0:0.0:0.8146:0.1854	.	.	.	.	X	2833;2833;2833;223;223	.	ENSP00000264319:R223X	R	-	1	2	FRYL	48198492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.270000	0.78493	1.216000	0.43427	0.484000	0.47621	CGA		0.303	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			101	464	0	0	0	1	0	101	464					A	48503735	G	A	48503735	4	1	79	1	0	0	0	0	0	1	0	0	6091	1124	39	1	556	1	FRYL	4	48503735	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1620	48503735	142650541	5244	15561											
FRYL	285527	broad.mit.edu	37	chr4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcttgcaactccaaaAcaccaaacttgagtgtttcc	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000503238.1	-	56	8335	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D			O94915	FRYL_HUMAN	FRY-like	2779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAACTCCAAAACACCAAACTT	0.418																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8335-8337)gTt>gAt		FRY-like							89	85	86					4																	48512134		1870	4123	5993	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512134A>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8336T>A	4.37:g.48512134A>T	ENSP00000426064:p.Val2779Asp					FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000503238.1_Missense_Mutation_p.V2779D|FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D	p.V2779D	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			59	8940	-			2779					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8336T>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058218	0.76074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.32515	1.46;1.46;1.45	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000007	T	0.60612	0.2282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.992;0.997;1.0	D;D;D	0.91635	0.944;0.975;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.3783	0.83418	1.0:0.0:0.0:0.0	.	2779;2779;175	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	D	2779;2779;2779;175;175	ENSP00000426064:V2779D;ENSP00000351113:V2779D;ENSP00000441114:V2779D	ENSP00000264319:V175D	V	-	2	0	FRYL	48206891	1.000000	0.71417	0.957000	0.39632	0.293000	0.27360	7.065000	0.76727	2.261000	0.74972	0.477000	0.44152	GTT		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			40	198	0	0	0	1	0	40	198					T	48512134	A	T	48512134	3	4	79	1	0	0	0	0	1	0	0	0	6091	43	2	5	729	5	FRYL	4	48512134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8399	48512134	142642142	5245	15562											
FRYL	285527	broad.mit.edu	37	chr4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctatctggggtagacGccagcgtctcaggaggagaa	15	10	2	2	rs368798359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000503238.1	-	21	2683	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000358350.4_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like	895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGGTAGACGCCAGCGTCTC	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15934	0.0		0.0	False		,,,				2504	0.0					ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2683-2685)gCg>gTg		FRY-like		G	VAL/ALA	1,3805		0,1,1902	131	132	132		2684	5.3	1	4		132	0,8276		0,0,4138	no	missense	FRYL	NM_015030.1	64	0,1,6040	AA,AG,GG		0.0,0.0263,0.0083	probably-damaging	895/3014	48578084	1,12081	1903	4138	6041	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48578084G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2684C>T	4.37:g.48578084G>A	ENSP00000426064:p.Ala895Val					FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.A895V|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V	p.A895V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			24	3288	-			895					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2684C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967701	0.74131	2.63E-4	0.0	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.68439	0.3001	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.979	D;B	0.65874	0.939;0.359	T	0.70479	-0.4860	10	0.62326	D	0.03	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	895;895	F2Z2S2;O94915	.;FRYL_HUMAN	V	895	ENSP00000426064:A895V;ENSP00000351113:A895V;ENSP00000441114:A895V;ENSP00000421584:A895V	ENSP00000351113:A895V	A	-	2	0	FRYL	48272841	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.623000	0.83113	2.430000	0.82344	0.467000	0.42956	GCG		0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			117	596	0	0	0	1	0	117	596					A	48578084	G	A	48578084	3	1	79	1	0	0	0	0	1	0	0	0	6091	1087	38	1	6521	1	FRYL	4	48578084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65950	48578084	142576192	5246	15563											
FRYL	285527	broad.mit.edu	37	chr4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaatgtgacaaacagttCtgtaggaaaatatgccagtt	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000503238.1	-	10	1013	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAACAGTTCTGTAGGAAAA	0.313																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1012-1014)caG>caT		FRY-like							60	59	60					4																	48604058		1802	4052	5854	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48604058C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1014G>T	4.37:g.48604058C>A	ENSP00000426064:p.Gln338His					FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.Q338H|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H	p.Q338H	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			13	1618	-			338					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.1014G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213028	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.14;-0.2	5.54	-0.577	0.11727	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.60715	0.2290	N	0.19112	0.55	0.80722	D	1	P;D	0.55605	0.891;0.972	P;P	0.57425	0.601;0.82	T	0.59172	-0.7504	10	0.49607	T	0.09	.	11.0087	0.47651	0.0:0.4995:0.0:0.5004	.	338;338	F2Z2S2;O94915	.;FRYL_HUMAN	H	338;338;338;338;44	ENSP00000426064:Q338H;ENSP00000351113:Q338H;ENSP00000441114:Q338H;ENSP00000421584:Q338H;ENSP00000425592:Q44H	ENSP00000351113:Q338H	Q	-	3	2	FRYL	48298815	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	0.257000	0.18369	-0.072000	0.12864	-0.140000	0.14226	CAG		0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			39	185	1	0	1.69901e-12	1	1.82497e-12	39	185					A	48604058	C	A	48604058	3	1	79	1	0	0	0	0	1	0	0	0	6091	912	32	3	8235	3	FRYL	4	48604058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25974	48604058	142550218	5247	15564											
FRYL	285527	broad.mit.edu	37	chr4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaccagcaagtgcatgtTttatatctttatctttcact	4	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000503238.1	-	8	784	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000358350.4_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTGCATGTTTTATATCTTT	0.308																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(784-786)aAa>aCa		FRY-like							112	115	114					4																	48607807		1825	4090	5915	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48607807T>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.785A>C	4.37:g.48607807T>G	ENSP00000426064:p.Lys262Thr					FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K262T|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T	p.K262T	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			11	1389	-			262					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.785A>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839186	0.91117	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.2	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.82660	0.5085	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.982;0.998	D	0.85140	0.0980	10	0.72032	D	0.01	.	15.8777	0.79178	0.0:0.0:0.0:1.0	.	262;262	F2Z2S2;O94915	.;FRYL_HUMAN	T	262	ENSP00000426064:K262T;ENSP00000351113:K262T;ENSP00000441114:K262T;ENSP00000421584:K262T	ENSP00000351113:K262T	K	-	2	0	FRYL	48302564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.151000	0.67156	0.482000	0.46254	AAA		0.308	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	380	0	0	0	1	0	15	380					G	48607807	T	G	48607807	3	3	79	1	0	0	0	0	1	0	0	0	6091	1841	64	4	8472	4	FRYL	4	48607807	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3749	48607807	142546469	5248	15565											
OCIAD1	54940	broad.mit.edu	37	chr4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtatgttgattactcaaGgattaattagtaaaggtaaa	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000381473.3	+	4	596	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	60	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(178-180)Gga>Tga		OCIA domain containing 1							67	67	67					4																	48844691		2196	4291	6487	SO:0001587	stop_gained	54940					endosome	protein binding	g.chr4:48844691G>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.178G>T	4.37:g.48844691G>T	ENSP00000370882:p.Gly60*					OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*	p.G60*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			4	453	+			60			OCIA.		C9K030|G8JLN7|Q9BZE8	Nonsense_Mutation	SNP	ENST00000381473.3	37	c.178G>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826178	0.90955	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.57	5.57	0.84162	.	0.295147	0.36482	N	0.002563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.612	10.8701	0.46879	0.0862:0.0:0.9138:0.0	.	.	.	.	X	60;33;60;33;60;60;60;60;60;60;60;60;60;60;60;6;6;6;6;60;60;60	.	ENSP00000264312:G60X	G	+	1	0	OCIAD1	48539448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.785000	0.95823	0.655000	0.94253	GGA		0.284	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		25	189	1	0	1.7367e-05	1	1.77815e-05	25	189					T	48844691	G	T	48844691	4	4	79	1	0	0	0	0	0	1	0	0	10859	1001	35	3	207	3	OCIAD1	4	48844691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236884	48844691	142309585	5249	15566											
OCIAD1	54940	broad.mit.edu	37	chr4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatggttccatccctaaacTtatacgtaagtatgaacaac	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000381473.3	+	5	654	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000425583.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	79	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(235-237)cTt>cGt		OCIA domain containing 1							73	73	73					4																	48850458		2203	4293	6496	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48850458T>G	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.236T>G	4.37:g.48850458T>G	ENSP00000370882:p.Leu79Arg					OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000381473.3_Missense_Mutation_p.L79R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R	p.L79R	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			5	511	+			79			OCIA.		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.236T>G	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280375	0.80692	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.53	5.53	0.82687	.	0.120460	0.56097	D	0.000038	T	0.61899	0.2384	L	0.55481	1.735	0.41182	D	0.98624	D;D;D;D	0.65815	0.995;0.995;0.995;0.991	D;P;P;D	0.64776	0.929;0.861;0.861;0.913	T	0.65467	-0.6161	10	0.72032	D	0.01	-12.937	13.6181	0.62121	0.0:0.0:0.0:1.0	.	52;79;79;79	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	R	79;52;52;79;79;79;79;79;79;79;79;79;79;79;25;25;25;25;79;79;79	ENSP00000423381:L79R;ENSP00000424041:L52R;ENSP00000423126:L52R;ENSP00000423845:L79R;ENSP00000424252:L79R;ENSP00000420917:L79R;ENSP00000264312:L79R;ENSP00000379725:L79R;ENSP00000426386:L79R;ENSP00000426902:L79R;ENSP00000427389:L79R;ENSP00000370882:L79R;ENSP00000399656:L79R;ENSP00000425633:L79R;ENSP00000420881:L25R;ENSP00000427363:L25R;ENSP00000425356:L25R;ENSP00000425968:L25R;ENSP00000416943:L79R;ENSP00000423002:L79R;ENSP00000423909:L79R	ENSP00000264312:L79R	L	+	2	0	OCIAD1	48545215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.087000	0.62958	0.528000	0.53228	CTT		0.259	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		38	107	0	0	0	1	0	38	107					G	48850458	T	G	48850458	3	3	79	1	0	0	0	0	1	0	0	0	10859	1609	56	4	269	4	OCIAD1	4	48850458	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5767	48850458	142303818	5250	15567											
CWH43	80157	broad.mit.edu	37	chr4	48994109	48994109	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcgtattggcacaggTaatactgtaacttaggaatt	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000226432.4	+	4	694		c.e4+2		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.e4+2		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							132	118	123					4																	48994109		2203	4300	6503	SO:0001630	splice_region_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:48994109T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.511+2T>C	4.37:g.48994109T>C						CWH43_ENST00000513409.1_Splice_Site		NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			4	694	+								B2RPD7	Splice_Site	SNP	ENST00000226432.4	37		CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059589	0.36373	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.499	0.39006	0.0:0.0792:0.0:0.9208	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48688866	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	3.095000	0.50235	1.024000	0.39682	0.402000	0.26972	.		0.368	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Intron	49	244	0	0	0	1	0	49	244					C	48994109	T	C	48994109	5	2	79	1	0	0	0	0	0	0	1	0	4084	1652	57	4	527	4	CWH43	4	48994109	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143651	48994109	142160167	5251	15568											
CWH43	80157	broad.mit.edu	37	chr4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgctgtgcttggcaagtgGattgatgcttccatcttgtt	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000226432.4	+	6	926	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	248					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(742-744)gGa>gAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							565	430	476					4																	49000506		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000506G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.743G>A	4.37:g.49000506G>A	ENSP00000226432:p.Gly248Glu					CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	p.G248E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			6	926	+			248					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.743G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089447	0.55968	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52526	1.22;0.66	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000229	T	0.66839	0.2830	M	0.69823	2.125	0.46437	D	0.999042	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	9	.	.	.	.	15.8982	0.79350	0.0:0.0:1.0:0.0	.	248	Q9H720	PG2IP_HUMAN	E	248;221	ENSP00000226432:G248E;ENSP00000422802:G221E	.	G	+	2	0	CWH43	48695263	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	5.658000	0.68003	2.618000	0.88619	0.591000	0.81541	GGA		0.413	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		74	419	0	0	0	1	0	74	419					A	49000506	G	A	49000506	3	1	79	1	0	0	0	0	1	0	0	0	4084	1174	41	2	765	2	CWH43	4	49000506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6397	49000506	142153770	5252	15569											
CWH43	80157	broad.mit.edu	37	chr4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggattatggctttgtcaaGatacccaattgtgaaatctg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000226432.4	+	12	1709	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	509					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1525-1527)aGa>aAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							277	242	254					4																	49034600		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49034600G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1526G>A	4.37:g.49034600G>A	ENSP00000226432:p.Arg509Lys					CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	p.R509K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			12	1709	+			509					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1526G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764591	0.02996	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.78246	-1.16;-1.16	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000016	T	0.45955	0.1368	N	0.00652	-1.29	0.38358	D	0.944522	B	0.33022	0.394	B	0.24974	0.057	T	0.58317	-0.7657	9	.	.	.	.	16.7881	0.85579	0.0:0.0:1.0:0.0	.	509	Q9H720	PG2IP_HUMAN	K	509;482	ENSP00000226432:R509K;ENSP00000422802:R482K	.	R	+	2	0	CWH43	48729357	0.998000	0.40836	0.865000	0.33974	0.101000	0.19017	4.487000	0.60293	2.737000	0.93849	0.561000	0.74099	AGA		0.458	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		199	1033	0	0	0	1	0	199	1033					A	49034600	G	A	49034600	3	1	79	1	0	0	0	0	1	0	0	0	4084	942	33	2	1572	2	CWH43	4	49034600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34094	49034600	142119676	5253	15570											
DCUN1D4	23142	broad.mit.edu	37	chr4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctttaataaagtgatgCcaccaaggaaaaagagaaga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	62						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(184-186)Cca>Tca		DCN1, defective in cullin neddylation 1, domain containing 4							127	124	125					4																	52740484		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52740484C>T	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.184C>T	4.37:g.52740484C>T	ENSP00000334625:p.Pro62Ser					DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S	p.P62S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		4	364	+			62					B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.184C>T	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365101	0.82463	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.18	5.18	0.71444	.	0.165490	0.53938	D	0.000041	T	0.62539	0.2436	L	0.39245	1.2	0.53005	D	0.999969	B;D;B	0.58970	0.264;0.984;0.264	B;P;B	0.58780	0.093;0.845;0.178	T	0.56153	-0.8026	9	0.19590	T	0.45	-15.7428	15.8845	0.79232	0.0:1.0:0.0:0.0	.	106;62;62	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	S	62;62;2;106;106	.	ENSP00000334625:P62S	P	+	1	0	DCUN1D4	52435241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.426000	0.82243	0.651000	0.88453	CCA		0.393	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		73	330	0	0	0	1	0	73	330					T	52740484	C	T	52740484	3	4	79	1	0	0	0	0	1	0	0	0	4327	739	26	2	198	2	DCUN1D4	4	52740484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3705884	52740484	138413792	5254	15571											
DCUN1D4	23142	broad.mit.edu	37	chr4	52740552	52740552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaagtagacatgatagGtatgatgtagagacagtaga	12	2	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4							nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.e4+1		DCN1, defective in cullin neddylation 1, domain containing 4							98	94	95					4																	52740552		2203	4300	6503	SO:0001630	splice_region_variant	23142							g.chr4:52740552G>A	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.251+1G>A	4.37:g.52740552G>A						DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site		NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		4	431	+								B4DH25|Q7Z3F3|Q7Z6B8	Splice_Site	SNP	ENST00000334635.5	37		CCDS33982.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216602	0.58452	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCUN1D4	52435309	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.843000	0.86859	2.366000	0.80165	0.651000	0.88453	.		0.403	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115	Intron	57	259	0	0	0	1	0	57	259					A	52740552	G	A	52740552	5	1	79	1	0	0	0	0	0	0	1	0	4327	1275	44	2	266	2	DCUN1D4	4	52740552	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	52740552	138413724	5255	15572											
LRRC66	339977	broad.mit.edu	37	chr4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggtggcgtgtgggtgtggCtgtgtcacccagaaaggggt	19	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	462						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1384-1386)caG>caT		leucine rich repeat containing 66							82	88	86					4																	52861802		2030	4175	6205	SO:0001583	missense	339977					integral to membrane		g.chr4:52861802C>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.1386G>T	4.37:g.52861802C>A	ENSP00000341944:p.Gln462His						p.Q462H	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1392	-			462						Missense_Mutation	SNP	ENST00000343457.3	37	c.1386G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513089	0.27123	.	.	ENSG00000188993	ENST00000343457	T	0.28255	1.62	2.99	2.14	0.27477	.	0.859774	0.09688	N	0.768846	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.39660	0.306	T	0.10706	-1.0618	10	0.59425	D	0.04	-0.0013	3.7545	0.08579	0.2394:0.6286:0.0:0.132	.	462	Q68CR7	LRC66_HUMAN	H	462	ENSP00000341944:Q462H	ENSP00000341944:Q462H	Q	-	3	2	LRRC66	52556559	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.063000	0.11655	0.834000	0.34852	0.467000	0.42956	CAG		0.577	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		95	399	1	0	1.76565e-42	1	2.15003e-42	95	399					A	52861802	C	A	52861802	3	1	79	1	0	0	0	0	1	0	0	0	9056	796	28	3	1260	3	LRRC66	4	52861802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121250	52861802	138292474	5256	15573											
LRRC66	339977	broad.mit.edu	37	chr4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatgcagatgaatgggaGgaaggcgggtttccctggaa	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	306						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(916-918)cCt>cTt		leucine rich repeat containing 66							53	50	51					4																	52862271		1840	4096	5936	SO:0001583	missense	339977					integral to membrane		g.chr4:52862271G>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.917C>T	4.37:g.52862271G>A	ENSP00000341944:p.Pro306Leu						p.P306L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	923	-			306						Missense_Mutation	SNP	ENST00000343457.3	37	c.917C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719568	0.48728	.	.	ENSG00000188993	ENST00000343457	T	0.36157	1.27	4.24	1.46	0.22682	.	0.353469	0.20919	N	0.083305	T	0.22898	0.0553	N	0.24115	0.695	0.20563	N	0.999881	B	0.25272	0.122	B	0.29267	0.1	T	0.17531	-1.0366	10	0.40728	T	0.16	-2.7327	7.8087	0.29217	0.2827:0.0:0.7173:0.0	.	306	Q68CR7	LRC66_HUMAN	L	306	ENSP00000341944:P306L	ENSP00000341944:P306L	P	-	2	0	LRRC66	52557028	0.933000	0.31639	0.006000	0.13384	0.007000	0.05969	1.398000	0.34554	0.136000	0.18733	0.467000	0.42956	CCT		0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		62	202	0	0	0	1	0	62	202					A	52862271	G	A	52862271	3	1	79	1	0	0	0	0	1	0	0	0	9056	1000	35	2	1729	2	LRRC66	4	52862271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	52862271	138292005	5257	15574											
SGCB	6443	broad.mit.edu	37	chr4	52899737	52899737	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaagttactgttgtgctCtttattgacactccttctct	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52899737C>A	ENST00000381431.5	-	2	325	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	35					cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTGTTGTGCTCTTTATTGACA	0.408																																						ENST00000381431.5																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17						c.(103-105)Gag>Tag		sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)							233	203	213					4																	52899737		2203	4300	6503	SO:0001587	stop_gained	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52899737C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.103G>T	4.37:g.52899737C>A	ENSP00000370839:p.Glu35*					SGCB_ENST00000535450.1_Intron	p.E35*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		2	325	-			35					B7Z635|O00661	Nonsense_Mutation	SNP	ENST00000381431.5	37	c.103G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275395	0.59649	.	.	ENSG00000163069	ENST00000381431	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.921	0.88966	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000370839:E35X	E	-	1	0	SGCB	52594494	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	7.750000	0.85110	2.476000	0.83614	0.650000	0.86243	GAG		0.408	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			16	463	1	0	5.3912e-06	1	5.54037e-06	16	463					A	52899737	C	A	52899737	4	1	79	1	0	0	0	0	0	1	0	0	14250	922	32	3	873	3	SGCB	4	52899737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37466	52899737	138254539	5258	15575											
SPATA18	132671	broad.mit.edu	37	chr4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccatgaatgtcaatcccaaGatttcattccctcctgtcgt	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443																																						ENST00000295213.4																			2	Substitution - Missense(2)	p.K404N(2)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1210-1212)aaG>aaT		spermatogenesis associated 18							289	270	277					4																	52945942		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945942G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1212G>T	4.37:g.52945942G>T	ENSP00000295213:p.Lys404Asn					SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	p.K404N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1586	+			404					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1212G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		246	1108	1	0	5.91303e-76	1	7.54278e-76	246	1108					T	52945942	G	T	52945942	3	4	79	1	0	0	0	0	1	0	0	0	15055	933	33	3	1246	3	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46205	52945942	138208334	5259	15576											
SPATA18	132671	broad.mit.edu	37	chr4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatttcattccctcctgTcgttgacttttgccttctca	5	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000295213.4	+	9	1603	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	410					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCCCTCCTGTCGTTGACTTT	0.443																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1228-1230)gTc>gCc		spermatogenesis associated 18							292	273	279					4																	52945959		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945959T>C	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1229T>C	4.37:g.52945959T>C	ENSP00000295213:p.Val410Ala					SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	p.V410A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1603	+			410					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1229T>C	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995522	0.35226	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27720	1.65;4.33	5.55	4.36	0.52297	.	0.153319	0.56097	D	0.000021	T	0.15565	0.0375	N	0.08118	0	0.22827	N	0.998686	B;B;B	0.28258	0.01;0.017;0.205	B;B;B	0.21708	0.009;0.009;0.036	T	0.15378	-1.0439	10	0.56958	D	0.05	-12.8994	9.9848	0.41835	0.8421:0.0:0.0:0.1579	.	378;410;410	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	A	410;378	ENSP00000295213:V410A;ENSP00000415309:V378A	ENSP00000295213:V410A	V	+	2	0	SPATA18	52640716	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.017000	0.64047	1.108000	0.41662	-0.339000	0.08088	GTC		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		137	1183	0	0	0	1	0	137	1183					C	52945959	T	C	52945959	3	2	79	1	0	0	0	0	1	0	0	0	15055	1667	58	4	1263	4	SPATA18	4	52945959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17	52945959	138208317	5260	15577											
USP46	64854	broad.mit.edu	37	chr4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccagagggaagaccacaCggtaagacagcttggtgtat	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	273	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(817-819)cGt>cAt		ubiquitin specific peptidase 46							123	123	123					4																	53468125		2095	4228	6323	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468125C>T	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.818G>A	4.37:g.53468125C>T	ENSP00000407818:p.Arg273His					USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	p.R273H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1002	-			273					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.818G>A	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628849	0.67015	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000035	T	0.52354	0.1729	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.971;0.964;0.939	T	0.51663	-0.8677	10	0.59425	D	0.04	-13.6899	18.0298	0.89279	0.0:1.0:0.0:0.0	.	157;261;273;266	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	273;246;266	ENSP00000407818:R273H;ENSP00000390102:R246H;ENSP00000423244:R266H	ENSP00000407818:R273H	R	-	2	0	USP46	53162882	1.000000	0.71417	0.937000	0.37676	0.011000	0.07611	7.776000	0.85560	2.559000	0.86315	0.650000	0.86243	CGT		0.532	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		70	243	0	0	0	1	0	70	243					T	53468125	C	T	53468125	3	4	79	1	0	0	0	0	1	0	0	0	17131	536	19	1	294	1	USP46	4	53468125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522166	53468125	137686151	5261	15578											
RASL11B	65997	broad.mit.edu	37	chr4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaattataatgatgTctacagcgccttccacgtcc	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(568-570)gTc>gCc		RAS-like, family 11, member B							173	170	171					4																	53731794		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731794T>C	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.569T>C	4.37:g.53731794T>C	ENSP00000248706:p.Val190Ala					RASL11B_ENST00000505041.1_3'UTR	p.V190A	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	787	+			190			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.569T>C	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071696	0.55646	.	.	ENSG00000128045	ENST00000248706	D	0.82167	-1.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93249	0.6633	10	0.87932	D	0	.	14.9182	0.70815	0.0:0.0:0.0:1.0	.	190	Q9BPW5	RSLBB_HUMAN	A	190	ENSP00000248706:V190A	ENSP00000248706:V190A	V	+	2	0	RASL11B	53426551	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	7.694000	0.84235	2.099000	0.63709	0.533000	0.62120	GTC		0.502	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		175	821	0	0	0	1	0	175	821					C	53731794	T	C	53731794	3	2	79	1	0	0	0	0	1	0	0	0	13132	1667	58	4	583	4	RASL11B	4	53731794	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263669	53731794	137422482	5262	15579											
RASL11B	65997	broad.mit.edu	37	chr4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggaggtttaagcaaGccctctctgccaaagtgagg	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(709-711)Gcc>Tcc		RAS-like, family 11, member B							60	56	57					4																	53731934		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731934G>T	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.709G>T	4.37:g.53731934G>T	ENSP00000248706:p.Ala237Ser					RASL11B_ENST00000505041.1_3'UTR	p.A237S	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	927	+			237			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.709G>T	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855242	0.91355	.	.	ENSG00000128045	ENST00000248706	T	0.71103	-0.54	5.86	5.86	0.93980	.	0.044956	0.85682	D	0.000000	T	0.76695	0.4023	L	0.58810	1.83	0.80722	D	1	D	0.56968	0.978	P	0.50754	0.649	T	0.77632	-0.2515	10	0.56958	D	0.05	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	237	Q9BPW5	RSLBB_HUMAN	S	237	ENSP00000248706:A237S	ENSP00000248706:A237S	A	+	1	0	RASL11B	53426691	1.000000	0.71417	0.959000	0.39883	0.832000	0.47134	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCC		0.562	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		37	193	1	0	6.05902e-23	1	6.8732e-23	37	193					T	53731934	G	T	53731934	3	4	79	1	0	0	0	0	1	0	0	0	13132	971	34	3	723	3	RASL11B	4	53731934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	53731934	137422342	5263	15580											
SCFD2	152579	broad.mit.edu	37	chr4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatttccaggaacatatacaGacttaaactgtttcaggaga	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	559					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACATATACAGACTTAAACTG	0.378																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1675-1677)tCt>tTt		sec1 family domain containing 2							95	98	97					4																	53786923		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53786923G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1676C>T	4.37:g.53786923G>A	ENSP00000384182:p.Ser559Phe					SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		6	1809	-			559					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1676C>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553179	0.65425	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78816	-1.11;-1.21	4.81	4.81	0.61882	.	0.053112	0.85682	D	0.000000	D	0.85137	0.5628	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.83956	0.0319	10	0.40728	T	0.16	.	13.5539	0.61749	0.0:0.0:1.0:0.0	.	559;559	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	559	ENSP00000384182:S559F;ENSP00000373592:S559F	ENSP00000373592:S559F	S	-	2	0	SCFD2	53481680	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.436000	0.66538	2.659000	0.90383	0.561000	0.74099	TCT		0.378	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		59	283	0	0	0	1	0	59	283					A	53786923	G	A	53786923	3	1	79	1	0	0	0	0	1	0	0	0	13940	942	33	2	394	2	SCFD2	4	53786923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54989	53786923	137367353	5264	15581											
SCFD2	152579	broad.mit.edu	37	chr4	54011686	54011686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgttggttctctgggTtacaggcttaatcatgggca	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54011686T>C	ENST00000401642.3	-	5	1508	c.1375A>G	c.(1375-1377)Acc>Gcc	p.T459A	SCFD2_ENST00000388940.4_Missense_Mutation_p.T459A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	459					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTCTCTGGGTTACAGGCTTA	0.423																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1375-1377)Acc>Gcc		sec1 family domain containing 2							123	128	126					4																	54011686		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54011686T>C	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1375A>G	4.37:g.54011686T>C	ENSP00000384182:p.Thr459Ala					SCFD2_ENST00000388940.4_Missense_Mutation_p.T459A	p.T459A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1508	-			459					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1375A>G	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.662885	0.00772	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.42131	0.98;0.98	5.11	-0.24	0.13047	.	1.330310	0.04976	N	0.464877	T	0.20088	0.0483	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12553	-1.0543	10	0.07813	T	0.8	.	1.7077	0.02885	0.1245:0.21:0.1296:0.5359	.	459;459	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	459	ENSP00000384182:T459A;ENSP00000373592:T459A	ENSP00000373592:T459A	T	-	1	0	SCFD2	53706443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.084000	0.14891	-0.147000	0.11254	0.460000	0.39030	ACC		0.423	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		8	532	0	0	0	1	0	8	532					C	54011686	T	C	54011686	3	2	79	1	0	0	0	0	1	0	0	0	13940	1725	60	4	699	4	SCFD2	4	54011686	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	224763	54011686	137142590	5265	15582											
SCFD2	152579	broad.mit.edu	37	chr4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaacactcctcccgtactCctaaatgttcacacagagaa	4	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	231					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCGTACTCCTAAATGTTC	0.527																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(691-693)gGa>gAa		sec1 family domain containing 2							122	114	117					4																	54231417		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231417C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.692G>A	4.37:g.54231417C>T	ENSP00000384182:p.Gly231Glu					SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	825	-			231					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.692G>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732558	0.69189	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.050423	0.85682	D	0.000000	D	0.89298	0.6675	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.86623	0.1880	10	0.30854	T	0.27	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	231;231	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	231	ENSP00000384182:G231E;ENSP00000373592:G231E	ENSP00000373592:G231E	G	-	2	0	SCFD2	53926174	0.428000	0.25522	0.953000	0.39169	0.317000	0.28152	1.947000	0.40293	2.873000	0.98535	0.561000	0.74099	GGA		0.527	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		93	388	0	0	0	1	0	93	388					T	54231417	C	T	54231417	3	4	79	1	0	0	0	0	1	0	0	0	13940	855	30	2	1398	2	SCFD2	4	54231417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219731	54231417	136922859	5266	15583											
SCFD2	152579	broad.mit.edu	37	chr4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtttcactttggccagcAcctgctcccatccttgctgg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTTGGCCAGCACCTGCTCCCA	0.622																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(49-51)gTg>gCg		sec1 family domain containing 2							47	52	50					4																	54232059		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54232059A>G	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.50T>C	4.37:g.54232059A>G	ENSP00000384182:p.Val17Ala					SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	183	-			17					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.50T>C	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432887	0.83776	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.59364	0.29;0.27	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.51422	1.61	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.72494	-0.4276	10	0.72032	D	0.01	.	13.3568	0.60633	1.0:0.0:0.0:0.0	.	17;17	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	17	ENSP00000384182:V17A;ENSP00000373592:V17A	ENSP00000373592:V17A	V	-	2	0	SCFD2	53926816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.317000	0.78254	0.459000	0.35465	GTG		0.622	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		59	283	0	0	0	1	0	59	283					G	54232059	A	G	54232059	3	3	79	1	0	0	0	0	1	0	0	0	13940	159	6	4	2040	4	SCFD2	4	54232059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	642	54232059	136922217	5267	15584											
FIP1L1	81608	broad.mit.edu	37	chr4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcccttccatctacaAaagctgagtttacttctcct	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000337488.6	+	10	954	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000507166.1_Missense_Mutation_p.K254Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	254	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCATCTACAAAAGCTGAGTT	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(760-762)Aaa>Caa		factor interacting with PAPOLA and CPSF1							170	165	167					4																	54265951		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54265951A>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.760A>C	4.37:g.54265951A>C	ENSP00000336752:p.Lys254Gln					FIP1L1_ENST00000337488.6_Missense_Mutation_p.K254Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q	p.K254Q			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		10	760	+			254			Necessary for stimulating PAPOLA activity.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.760A>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609676	0.87258	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.996;0.985;0.997;0.999	T	0.54629	-0.8265	10	0.20046	T	0.44	-23.9796	15.6962	0.77502	1.0:0.0:0.0:0.0	.	239;58;239;216;254;239	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	Q	254;239;239;216;254	ENSP00000336752:K254Q;ENSP00000351383:K239Q;ENSP00000425456:K239Q;ENSP00000302993:K216Q;ENSP00000423325:K254Q	ENSP00000302993:K216Q	K	+	1	0	FIP1L1	53960708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.168000	0.68352	0.533000	0.62120	AAA		0.388	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		67	354	0	0	0	1	0	67	354					C	54265951	A	C	54265951	3	2	79	1	0	0	0	0	1	0	0	0	5921	15	1	4	798	4	FIP1L1	4	54265951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33892	54265951	136888325	5268	15585											
FIP1L1	81608	broad.mit.edu	37	chr4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagagggagcgtgatcacaGtcctacaccaagtgttttca	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	492	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGTGATCACAGTCCTACACCA	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1474-1476)aGt>aTt		factor interacting with PAPOLA and CPSF1							73	64	67					4																	54319276		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319276G>T	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1475G>T	4.37:g.54319276G>T	ENSP00000336752:p.Ser492Ile					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	p.S492I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1669	+			492			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1475G>T	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397827	0.83120	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.23348	1.91;1.91;2.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	D;D;D;D	0.71870	0.975;0.944;0.975;0.962	T	0.46762	-0.9168	10	0.87932	D	0	-18.3904	19.2835	0.94061	0.0:0.0:1.0:0.0	.	486;486;418;492	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	I	492;486;418;149	ENSP00000336752:S492I;ENSP00000351383:S486I;ENSP00000302993:S418I	ENSP00000302993:S418I	S	+	2	0	FIP1L1	54014033	1.000000	0.71417	0.965000	0.40720	0.791000	0.44710	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	AGT		0.438	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		70	307	1	0	1.31311e-47	1	1.61703e-47	70	307					T	54319276	G	T	54319276	3	4	79	1	0	0	0	0	1	0	0	0	5921	1029	36	3	1568	3	FIP1L1	4	54319276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53325	54319276	136835000	5269	15586											
LNX1	84708	broad.mit.edu	37	chr4	54343147	54343147	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcaacaaaatgtcAcctgatggccagagaagcag	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000263925.7	-	9	1979	c.1665T>C	c.(1663-1665)ggT>ggC	p.G555G	LNX1_ENST00000306888.2_Splice_Site_p.G459G|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	555	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAAATGTCACCTGATGGCC	0.483																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.e8-1		ligand of numb-protein X 1, E3 ubiquitin protein ligase							103	103	103					4																	54343147		2203	4300	6503	SO:0001630	splice_region_variant	84708					cytoplasm	zinc ion binding	g.chr4:54343147A>G	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1664-1T>C	4.37:g.54343147A>G						FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site_p.G555_splice	p.G459_splice	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	1628	-	all_neural(26;0.153)		555			PDZ 2.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	SNP	ENST00000263925.7	37	c.1375_splice	CCDS47057.1																																																																																				0.483	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		Silent	95	424	0	0	0	1	0	95	424					G	54343147	A	G	54343147	5	3	79	1	0	0	0	0	0	0	1	0	8898	173	6	4	533	4	LNX1	4	54343147	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23871	54343147	136811129	5270	15587											
GSX2	170825	broad.mit.edu	37	chr4	54966712	54966712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctctgcgtcacttcGcacctgcactcctctcgggg	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	ENST00000326902.2	+	1	515	c.201G>A	c.(199-201)tcG>tcA	p.S67S	GSX2_ENST00000503800.1_Silent_p.S67S|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	67					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGTCACTTCGCACCTGCACT	0.751																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(199-201)tcG>tcA		GS homeobox 2							14	15	15					4																	54966712		2201	4295	6496	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966712G>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.201G>A	4.37:g.54966712G>A						FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.S67S	p.S67S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	515	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		67						Silent	SNP	ENST00000326902.2	37	c.201G>A	CCDS3494.1																																																																																				0.751	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		18	71	0	0	0	1	0	18	71					A	54966712	G	A	54966712	2	1	79	1	0	0	0	0	0	0	0	1	6880	1074	38	1		1	GSX2	4	54966712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623565	54966712	136187564	5271	15588											
GSX2	170825	broad.mit.edu	37	chr4	54967769	54967769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctctgacgccagccagGtacccaatggcaagaggatg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54967769G>T	ENST00000326902.2	+	2	909	c.595G>T	c.(595-597)Gta>Tta	p.V199L	GSX2_ENST00000503800.1_Missense_Mutation_p.R128S|FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	199					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCCAGCCAGGTACCCAATGG	0.587																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(595-597)Gta>Tta		GS homeobox 2							59	63	62					4																	54967769		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967769G>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.595G>T	4.37:g.54967769G>T	ENSP00000319118:p.Val199Leu					FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S	p.V199L	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	909	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		199						Missense_Mutation	SNP	ENST00000326902.2	37	c.595G>T	CCDS3494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.120|4.120	0.020448|0.020448	0.08006|0.08006	.|.	.|.	ENSG00000180613|ENSG00000180613	ENST00000503800|ENST00000326902	T|D	0.44881|0.95447	0.91|-3.71	4.9|4.9	3.97|3.97	0.46021|0.46021	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.599177	.|0.17438	.|N	.|0.174220	D|D	0.84763|0.84763	0.5544|0.5544	N|N	0.04508|0.04508	-0.205|-0.205	0.20196|0.20196	N|N	0.99992|0.99992	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.71210|0.71210	-0.4660|-0.4660	7|10	0.23302|0.10902	T|T	0.38|0.67	.|.	6.1955|6.1955	0.20548|0.20548	0.1326:0.1976:0.6698:0.0|0.1326:0.1976:0.6698:0.0	.|.	.|199	.|Q9BZM3	.|GSX2_HUMAN	S|L	128|199	ENSP00000422213:R128S|ENSP00000319118:V199L	ENSP00000422213:R128S|ENSP00000319118:V199L	R|V	+|+	3|1	2|0	GSX2|GSX2	54662526|54662526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.948000|0.948000	0.59901|0.59901	2.792000|2.792000	0.47837|0.47837	2.535000|2.535000	0.85469|0.85469	0.484000|0.484000	0.47621|0.47621	AGG|GTA		0.587	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		11	272	1	0	3.86212e-05	1	3.93988e-05	11	272					T	54967769	G	T	54967769	3	4	79	1	0	0	0	0	1	0	0	0	6880	1261	44	3	601	3	GSX2	4	54967769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	54967769	136186507	5272	15589											
PDGFRA	5156	broad.mit.edu	37	chr4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcacgtagccctgcGttctgaactcacggtggctg	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1564-1566)cGt>cAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						166	150	155					4																	55140704		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140704G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1565G>A	4.37:g.55140704G>A	ENSP00000257290:p.Arg522His	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.R522H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1896	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		522					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1565G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	PDGFRA	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		101	409	0	0	0	1	0	101	409					A	55140704	G	A	55140704	3	1	79	1	0	0	0	0	1	0	0	0	11703	1145	40	1	1603	1	PDGFRA	4	55140704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172935	55140704	136013572	5273	15590											
PDGFRA	5156	broad.mit.edu	37	chr4	55156501	55156501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttatgaaaaaattcacctgGacttcctgaagagtgaccat	8	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156501G>A	ENST00000257290.5	+	22	3233	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	968					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATTCACCTGGACTTCCTGAA	0.393			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2902-2904)Gac>Aac		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						84	82	83					4																	55156501		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156501G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2902G>A	4.37:g.55156501G>A	ENSP00000257290:p.Asp968Asn	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	p.D968N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3233	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		968					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2902G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561135	0.86335	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78003	-1.14;-0.95	5.9	5.05	0.67936	.	0.000000	0.33813	U	0.004525	D	0.82379	0.5024	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.59825	0.864	T	0.79014	-0.1976	10	0.15066	T	0.55	.	17.0757	0.86585	0.0:0.127:0.873:0.0	.	968	P16234	PGFRA_HUMAN	N	728;968	ENSP00000423325:D728N;ENSP00000257290:D968N	ENSP00000423325:D728N	D	+	1	0	FIP1L1;PDGFRA	54851258	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.473000	0.81007	1.495000	0.48549	-0.181000	0.13052	GAC		0.393	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		12	305	0	0	0	1	0	12	305					A	55156501	G	A	55156501	3	1	79	1	0	0	0	0	1	0	0	0	11703	1174	41	2	2984	2	PDGFRA	4	55156501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	55156501	135997775	5274	15591											
PDGFRA	5156	broad.mit.edu	37	chr4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagcagagactgagcGctgacagtggctacatcatt	13	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1014					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A1014_S1016delADS(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		2	Deletion - In frame(2)	p.A1014_S1016delADS(2)	liver(2)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3040-3042)Gct>Act		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						189	156	167					4																	55156639		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156639G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3040G>A	4.37:g.55156639G>A	ENSP00000257290:p.Ala1014Thr	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	p.A1014T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3371	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1014					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3040G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123092	0.56613	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77229	-1.08;-0.9	5.93	5.08	0.68730	.	0.000000	0.31976	U	0.006774	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P	0.40360	0.714	B	0.24541	0.054	T	0.62058	-0.6934	10	0.11182	T	0.66	.	14.5376	0.67971	0.0697:0.0:0.9303:0.0	.	1014	P16234	PGFRA_HUMAN	T	774;1014	ENSP00000423325:A774T;ENSP00000257290:A1014T	ENSP00000423325:A774T	A	+	1	0	FIP1L1;PDGFRA	54851396	1.000000	0.71417	0.854000	0.33618	0.934000	0.57294	5.717000	0.68446	2.814000	0.96858	0.563000	0.77884	GCT		0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		104	446	0	0	0	1	0	104	446					A	55156639	G	A	55156639	3	1	79	1	0	0	0	0	1	0	0	0	11703	1087	38	1	3122	1	PDGFRA	4	55156639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	55156639	135997637	5275	15592											
KIT	3815	broad.mit.edu	37	chr4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagccttcaaagctgtgCctgttgtgtctgtgtccaaa	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	212	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(634-636)Cct>Tct		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						130	114	120					4																	55565810		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55565810C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.634C>T	4.37:g.55565810C>T	ENSP00000288135:p.Pro212Ser						p.P212S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	4	731	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		212			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.634C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985470	0.53934	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.88124	-2.34;-2.34	5.74	5.74	0.90152	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93341	0.7877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	10	0.59425	D	0.04	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	212;212	P10721-2;P10721	.;KIT_HUMAN	S	212	ENSP00000288135:P212S;ENSP00000390987:P212S	ENSP00000288135:P212S	P	+	1	0	KIT	55260567	0.972000	0.33761	0.180000	0.23079	0.237000	0.25408	4.715000	0.61909	2.707000	0.92482	0.557000	0.71058	CCT		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			61	301	0	0	0	1	0	61	301					T	55565810	C	T	55565810	3	4	79	1	0	0	0	0	1	0	0	0	8359	739	26	2	648	2	KIT	4	55565810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409171	55565810	135588466	5276	15593											
KIT	3815	broad.mit.edu	37	chr4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggagaaatataatagCtggcatcacggtgacttcaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(781-783)agC>agA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84	85	84					4																	55569916		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55569916C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.783C>A	4.37:g.55569916C>A	ENSP00000288135:p.Ser261Arg						p.S261R	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	5	880	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		261			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.783C>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893441	0.52121	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.21031	2.03;2.03	5.24	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.076622	0.56097	D	0.000031	T	0.41834	0.1176	M	0.68952	2.095	0.41590	D	0.988792	P;D	0.76494	0.807;0.999	B;D	0.74348	0.206;0.983	T	0.26121	-1.0112	10	0.40728	T	0.16	.	12.3268	0.55015	0.0:0.9225:0.0:0.0775	.	261;261	P10721-2;P10721	.;KIT_HUMAN	R	261	ENSP00000288135:S261R;ENSP00000390987:S261R	ENSP00000288135:S261R	S	+	3	2	KIT	55264673	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.267000	0.43329	1.468000	0.48064	0.650000	0.86243	AGC		0.343	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			33	249	1	0	1.39649e-27	1	1.61833e-27	33	249					A	55569916	C	A	55569916	3	1	79	1	0	0	0	0	1	0	0	0	8359	796	28	3	801	3	KIT	4	55569916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4106	55569916	135584360	5277	15594											
KIT	3815	broad.mit.edu	37	chr4	55575592	55575592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcttttctttgtagatAcgtaagtgaacttcatctaa	7	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55575592A>G	ENST00000288135.5	+	7	1215	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	373	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGTAGATACGTAAGTGAA	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1117-1119)tAc>tGc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						82	75	77					4																	55575592		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55575592A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1118A>G	4.37:g.55575592A>G	ENSP00000288135:p.Tyr373Cys						p.Y373C	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	7	1215	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		373			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1118A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435646	0.43224	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55234	0.53;0.53	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.78298	0.4261	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83359	0.0001	10	0.87932	D	0	.	15.1434	0.72630	1.0:0.0:0.0:0.0	.	373;373	P10721-2;P10721	.;KIT_HUMAN	C	373	ENSP00000288135:Y373C;ENSP00000390987:Y373C	ENSP00000288135:Y373C	Y	+	2	0	KIT	55270349	1.000000	0.71417	0.924000	0.36721	0.018000	0.09664	5.736000	0.68597	2.313000	0.78055	0.455000	0.32223	TAC		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			6	253	0	0	0	1	0	6	253					G	55575592	A	G	55575592	3	3	79	1	0	0	0	0	1	0	0	0	8359	391	14	4	1144	4	KIT	4	55575592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5676	55575592	135578684	5278	15595											
KIT	3815	broad.mit.edu	37	chr4	55597497	55597497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcatctctcccagcagCgatagtactaatgagtacat	7	10	2	1	rs192110951	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs56094246). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C|||	2	0.000399361	0.0	0.0	5008	,	,		20107	0.002		0.0	False		,,,				2504	0.0					ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		7	Deletion - In frame(7)	p.S715del(7)	soft_tissue(7)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2143-2145)agC>agT		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						110	102	105					4																	55597497		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55597497C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2145C>T	4.37:g.55597497C>T							p.S715S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	15	2242	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		715		S -> N (in dbSNP:rs56094246).	Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2145C>T	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			36	184	0	0	0	1	0	36	184					T	55597497	C	T	55597497	2	4	79	1	0	0	0	0	0	0	0	1	8359	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21905	55597497	135556779	5279	15596											
KIT	3815	broad.mit.edu	37	chr4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaagcagcccctatcCtggaatgccggtcgattcta	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	871	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2611-2613)cCt>cAt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						102	99	100					4																	55602902		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602902C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2612C>A	4.37:g.55602902C>A	ENSP00000288135:p.Pro871His						p.P871H	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2709	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		871			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2612C>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454276	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.90164	0.6926	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90602	0.4545	10	0.87932	D	0	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	867;871	P10721-2;P10721	.;KIT_HUMAN	H	871;867	ENSP00000288135:P871H;ENSP00000390987:P867H	ENSP00000288135:P871H	P	+	2	0	KIT	55297659	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.943000	0.70211	2.625000	0.88918	0.655000	0.94253	CCT		0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			70	328	1	0	1.71382e-40	1	2.07847e-40	70	328					A	55602902	C	A	55602902	3	1	79	1	0	0	0	0	1	0	0	0	8359	681	24	3	2686	3	KIT	4	55602902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5405	55602902	135551374	5280	15597											
KDR	3791	broad.mit.edu	37	chr4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagtatgtctttttgtatgCtgagcctgggcagatcaaga	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	35					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(103-105)aGc>aTc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						129	133	132					4																	55987321		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987321C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.104G>T	4.37:g.55987321C>A	ENSP00000263923:p.Ser35Ile	TSP Lung(20;0.16)					p.S35I	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	399	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		35					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.104G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476757	0.44044	.	.	ENSG00000128052	ENST00000263923	T	0.35236	1.32	5.83	4.99	0.66335	Immunoglobulin-like fold (1);	0.086710	0.85682	D	0.000000	T	0.59649	0.2209	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.889	T	0.64158	-0.6473	10	0.72032	D	0.01	.	13.211	0.59825	0.0:0.9264:0.0:0.0736	.	35;35	P35968-2;P35968	.;VGFR2_HUMAN	I	35	ENSP00000263923:S35I	ENSP00000263923:S35I	S	-	2	0	KDR	55682078	1.000000	0.71417	0.987000	0.45799	0.320000	0.28249	2.945000	0.49043	1.478000	0.48253	-0.142000	0.14014	AGC		0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			61	244	1	0	5.62145e-24	1	6.41091e-24	61	244					A	55987321	C	A	55987321	3	1	79	1	0	0	0	0	1	0	0	0	8169	797	28	3	4082	3	KDR	4	55987321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384419	55987321	135166955	5281	15598											
SRD5A3	79644	broad.mit.edu	37	chr4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttacccgaagcataGgaaagctttcctaccatttt	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	310					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CCGAAGCATAGGAAAGCTTTC	0.433																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(928-930)aGg>aTg		steroid 5 alpha-reductase 3							128	125	126					4																	56236230		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56236230G>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.929G>T	4.37:g.56236230G>T	ENSP00000264228:p.Arg310Met					SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	p.R310M	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		5	1157	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		310					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.929G>T	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568963	0.65765	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.61158	0.13;0.13	5.69	5.69	0.88448	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89071	0.3469	10	0.87932	D	0	-25.3173	19.8051	0.96529	0.0:0.0:1.0:0.0	.	310	Q9H8P0	PORED_HUMAN	M	310;174	ENSP00000264228:R310M;ENSP00000424714:R174M	ENSP00000264228:R310M	R	+	2	0	SRD5A3	55930987	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.624000	0.98398	2.702000	0.92279	0.591000	0.81541	AGG		0.433	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		136	570	1	0	6.80707e-84	1	8.71856e-84	136	570					T	56236230	G	T	56236230	3	4	79	1	0	0	0	0	1	0	0	0	15192	1000	35	3	947	3	SRD5A3	4	56236230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248909	56236230	134918046	5282	15599											
TMEM165	55858	broad.mit.edu	37	chr4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagacattttttatagcagCcatcatggcaatgcgctata	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	118					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(352-354)gCc>gTc		transmembrane protein 165							117	102	107					4																	56277926		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56277926C>T	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.353C>T	4.37:g.56277926C>T	ENSP00000370736:p.Ala118Val					TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	p.A118V	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		2	586	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		118					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.353C>T	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366242	0.95900	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82255	-1.59;-1.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.979;1.0	D	0.90158	0.4226	10	0.54805	T	0.06	-16.7347	19.3813	0.94536	0.0:1.0:0.0:0.0	.	55;118	B4DHW1;Q9HC07	.;TM165_HUMAN	V	118;55	ENSP00000370736:A118V;ENSP00000437816:A55V	ENSP00000370736:A118V	A	+	2	0	TMEM165	55972683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.798000	0.96311	0.655000	0.94253	GCC		0.448	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		53	200	0	0	0	1	0	53	200					T	56277926	C	T	56277926	3	4	79	1	0	0	0	0	1	0	0	0	16132	739	26	2	359	2	TMEM165	4	56277926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41696	56277926	134876350	5283	15600											
TMEM165	55858	broad.mit.edu	37	chr4	56283999	56283999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaacttttaaatggaccGggagatgttgaaacgggtac	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	213					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(637-639)ccG>ccA		transmembrane protein 165							79	80	80					4																	56283999		2203	4300	6503	SO:0001819	synonymous_variant	55858					integral to membrane		g.chr4:56283999G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.639G>A	4.37:g.56283999G>A						TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR	p.P213P	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		4	872	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		213					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	c.639G>A	CCDS3499.1																																																																																				0.333	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		37	147	0	0	0	1	0	37	147					A	56283999	G	A	56283999	2	1	79	1	0	0	0	0	0	0	0	1	16132	1103	39	1		1	TMEM165	4	56283999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6073	56283999	134870277	5284	15601											
CLOCK	9575	broad.mit.edu	37	chr4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagtcactaatttggTcacaagttgttgaccttgag	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A|CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	711	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTAATTTGGTCACAAGTTGT	0.408																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2131-2133)Acc>Gcc		clock circadian regulator							83	68	73					4																	56304679		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304679T>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2131A>G	4.37:g.56304679T>C	ENSP00000308741:p.Thr711Ala					CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A|CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A	p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2381	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		711					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.2131A>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477432	0.63849	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.73	5.73	0.89815	.	0.093123	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76574	2.34	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.00356	-1.1793	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	711	O15516	CLOCK_HUMAN	A	711	ENSP00000308741:T711A;ENSP00000370723:T711A;ENSP00000426983:T711A	.	T	-	1	0	CLOCK	55999436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	ACC		0.408	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		32	183	0	0	0	1	0	32	183					C	56304679	T	C	56304679	3	2	79	1	0	0	0	0	1	0	0	0	3558	1667	58	4	417	4	CLOCK	4	56304679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20680	56304679	134849597	5285	15602											
CLOCK	9575	broad.mit.edu	37	chr4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgttgcatggctcctAattgagctgaaaactgaaac	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	520	Implicated in the circadian rhythmicity. {ECO:0000250}.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGGCTCCTAATTGAGCTGA	0.343																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1558-1560)tTa>tGa		clock circadian regulator							157	137	144					4																	56310933		2203	4300	6503	SO:0001587	stop_gained	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56310933A>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1559T>G	4.37:g.56310933A>C	ENSP00000308741:p.Leu520*					CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		18	1809	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		520			Implicated in the circadian rhythmicity (By similarity).		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	c.1559T>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	45	11.808693	0.99605	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.93	5.93	0.95920	.	0.317300	0.32533	N	0.005963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000308741:L520X	L	-	2	0	CLOCK	56005690	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	8.730000	0.91510	2.270000	0.75569	0.460000	0.39030	TTA		0.343	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		47	199	0	0	0	1	0	47	199					C	56310933	A	C	56310933	4	2	79	1	0	0	0	0	0	1	0	0	3558	372	13	4	1001	4	CLOCK	4	56310933	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6254	56310933	134843343	5286	15603											
CLOCK	9575	broad.mit.edu	37	chr4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccagttctttaatgagaAcattaaattgatctctacgt	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	52	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tttaatgagaacattAAATTG	0.299																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(154-156)gTt>gGt		clock circadian regulator							54	54	54					4																	56345083		2199	4297	6496	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56345083A>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.155T>G	4.37:g.56345083A>C	ENSP00000308741:p.Val52Gly					CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR	p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		5	405	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		52			Helix-loop-helix motif.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.155T>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817389	0.90790	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	D;D;D	0.97831	-4.56;-4.56;-4.56	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.165289	0.53938	D	0.000054	D	0.95771	0.8624	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.33121	0.158	D	0.94396	0.7618	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	52	O15516	CLOCK_HUMAN	G	52	ENSP00000308741:V52G;ENSP00000370723:V52G;ENSP00000426983:V52G	ENSP00000308741:V52G	V	-	2	0	CLOCK	56039840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.324000	0.90005	2.326000	0.78906	0.533000	0.62120	GTT		0.299	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		16	67	0	0	0	1	0	16	67					C	56345083	A	C	56345083	3	2	79	1	0	0	0	0	1	0	0	0	3558	43	2	4	2457	4	CLOCK	4	56345083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34150	56345083	134809193	5287	15604											
EXOC1	55763	broad.mit.edu	37	chr4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttgaaggtttgatagctCgctgttatcctggatctggt	11	7	1	2	rs546749405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	867					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R867C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATAGCTCGCTGTTATCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.0		0.001	False		,,,				2504	0.0					ENST00000381295.2																			1	Substitution - Missense(1)	p.R867C(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2599-2601)Cgc>Tgc		exocyst complex component 1							193	179	184					4																	56770575		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56770575C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2599C>T	4.37:g.56770575C>T	ENSP00000370695:p.Arg867Cys					EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C	p.R867C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			19	2947	+	Glioma(25;0.08)|all_neural(26;0.101)		867					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2599C>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927465	0.73327	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	.	0.053203	0.64402	D	0.000001	T	0.76364	0.3977	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66716	0.87;0.946	T	0.79145	-0.1924	9	0.87932	D	0	.	13.7799	0.63077	0.1536:0.8464:0.0:0.0	.	852;867	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	867;867;852	.	ENSP00000326514:R867C	R	+	1	0	EXOC1	56465332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.605000	0.61119	2.437000	0.82529	0.563000	0.77884	CGC		0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		98	399	0	0	0	1	0	98	399					T	56770575	C	T	56770575	3	4	79	1	0	0	0	0	1	0	0	0	5319	884	31	1	2669	1	EXOC1	4	56770575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425492	56770575	134383701	5288	15605											
CEP135	9662	broad.mit.edu	37	chr4	56831839	56831839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcaagctaataaagaCctggagaagcgtatacgaga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	286					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTAATAAAGACCTGGAGAAGC	0.328																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(856-858)gaC>gaT		centrosomal protein 135kDa							52	51	51					4																	56831839		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56831839C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.858C>T	4.37:g.56831839C>T							p.D286D	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			8	982	+	Glioma(25;0.08)|all_neural(26;0.101)		286					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.858C>T	CCDS33986.1																																																																																				0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		39	155	0	0	0	1	0	39	155					T	56831839	C	T	56831839	2	4	79	1	0	0	0	0	0	0	0	1	3256	506	18	2		2	CEP135	4	56831839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61264	56831839	134322437	5289	15606											
CEP135	9662	broad.mit.edu	37	chr4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagatgaacttcagcGtatgctagaaagatttgaaa	10	4	1	6	rs376581153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	510					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAACTTCAGCGTATGCTAGAA	0.289																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1528-1530)cGt>cAt		centrosomal protein 135kDa		G	HIS/ARG	1,4405		0,1,2202	81	84	83		1529	-1.2	0	4		83	0,8596		0,0,4298	no	missense	CEP135	NM_025009.3	29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	510/1141	56846364	1,13001	2203	4298	6501	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56846364G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1529G>A	4.37:g.56846364G>A	ENSP00000257287:p.Arg510His						p.R510H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			12	1653	+	Glioma(25;0.08)|all_neural(26;0.101)		510					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1529G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437961	0.12104	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.44881	0.91	5.87	-1.2	0.09554	.	0.926115	0.09460	N	0.799163	T	0.30386	0.0763	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26224	-1.0109	10	0.41790	T	0.15	.	8.4725	0.32993	0.5889:0.1833:0.2278:0.0	.	510	Q66GS9	CP135_HUMAN	H	510	ENSP00000257287:R510H	ENSP00000257287:R510H	R	+	2	0	CEP135	56541121	0.003000	0.15002	0.031000	0.17742	0.916000	0.54674	0.133000	0.15912	-0.254000	0.09500	-0.137000	0.14449	CGT		0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		61	282	0	0	0	1	0	61	282					A	56846364	G	A	56846364	3	1	79	1	0	0	0	0	1	0	0	0	3256	1145	40	1	1571	1	CEP135	4	56846364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14525	56846364	134307912	5290	15607											
KIAA1211	57482	broad.mit.edu	37	chr4	57179389	57179389	+	Frame_Shift_Del	DEL	A	A	-													cccgttaaaccgtctcggccAaaaaggcacttctcttctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179389delA	ENST00000504228.1	+	5	486	c.381delA	c.(379-381)ccafs	p.P127fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P127fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P120fs			Q6ZU35	K1211_HUMAN	KIAA1211	127										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGTCTCGGCCAAAAAGGCACT	0.537																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(379-381)ccfs		KIAA1211							182	187	186					4																	57179389		1995	4157	6152	SO:0001589	frameshift_variant	57482							g.chr4:57179389delA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.381delA	4.37:g.57179389delA	ENSP00000423366:p.Pro127fs					KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P120fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P127fs	p.P127fs			Q6ZU35	K1211_HUMAN			5	486	+	Glioma(25;0.08)|all_neural(26;0.101)		127					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.381delA	CCDS43230.1																																																																																				0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	1253						7	1253	---	---	---	---	-	57179389	A	-	57179389	7	5	79	1	0	1	0	1	0	0	0	0	8245	117	5	0	395	0	KIAA1211	4	57179389	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	333025	57179389	133974887	5291	15608											
KIAA1211	57482	broad.mit.edu	37	chr4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatccccctggccatcGctcgcctggacaacagtgcc	9	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T			Q6ZU35	K1211_HUMAN	KIAA1211	150										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGCCATCGCTCGCCTGGA	0.552																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(448-450)Gct>Act		KIAA1211							132	140	137					4																	57179456		2052	4173	6225	SO:0001583	missense	57482							g.chr4:57179456G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.448G>A	4.37:g.57179456G>A	ENSP00000423366:p.Ala150Thr					KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T	p.A150T			Q6ZU35	K1211_HUMAN			5	553	+	Glioma(25;0.08)|all_neural(26;0.101)		150					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.448G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301535	0.60195	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14640	2.49;2.49;2.52	5.4	3.64	0.41730	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.36295	D	0.856633	P;P;P	0.51653	0.947;0.861;0.861	B;B;B	0.42319	0.383;0.123;0.123	T	0.17837	-1.0356	9	0.52906	T	0.07	-15.0899	7.9937	0.30256	0.1378:0.1383:0.7239:0.0	.	143;143;150	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	150;150;143;60	ENSP00000264229:A150T;ENSP00000423366:A150T;ENSP00000444006:A143T	ENSP00000264229:A150T	A	+	1	0	KIAA1211	56874213	0.999000	0.42202	0.978000	0.43139	0.951000	0.60555	3.380000	0.52448	1.261000	0.44149	0.491000	0.48974	GCT		0.552	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		28	821	0	0	0	1	0	28	821					A	57179456	G	A	57179456	3	1	79	1	0	0	0	0	1	0	0	0	8245	1087	38	1	462	1	KIAA1211	4	57179456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	57179456	133974820	5292	15609											
KIAA1211	57482	broad.mit.edu	37	chr4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggctttggccaaaaGgaaagcaaaggcttggagcg	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M			Q6ZU35	K1211_HUMAN	KIAA1211	1220										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGGCCAAAAGGAAAGCAAAG	0.532																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3658-3660)aGg>aTg		KIAA1211							87	90	89					4																	57193927		1866	4098	5964	SO:0001583	missense	57482							g.chr4:57193927G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3659G>T	4.37:g.57193927G>T	ENSP00000423366:p.Arg1220Met					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M	p.R1220M			Q6ZU35	K1211_HUMAN			9	3764	+	Glioma(25;0.08)|all_neural(26;0.101)		1220					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3659G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009568	0.93346	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	5.69	0.88448	.	.	.	.	.	D	0.87497	0.6192	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87873	0.2672	9	0.87932	D	0	-14.174	19.817	0.96573	0.0:0.0:1.0:0.0	.	1213;1220	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1220;1220;1213	ENSP00000264229:R1220M;ENSP00000423366:R1220M;ENSP00000444006:R1213M	ENSP00000264229:R1220M	R	+	2	0	KIAA1211	56888684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.655000	0.94253	AGG		0.532	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		158	695	1	0	6.34984e-79	1	8.11231e-79	158	695					T	57193927	G	T	57193927	3	4	79	1	0	0	0	0	1	0	0	0	8245	1000	35	3	3689	3	KIAA1211	4	57193927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14471	57193927	133960349	5293	15610											
AASDH	132949	broad.mit.edu	37	chr4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaaacttttgcaacaCaggatggatcttttgacttc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	736					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTGCAACACAGGATGGATC	0.428																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2206-2208)tGt>tCt		aminoadipate-semialdehyde dehydrogenase							107	107	107					4																	57215710		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215710C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2207G>C	4.37:g.57215710C>G	ENSP00000205214:p.Cys736Ser					AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S	p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	2387	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	736					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2207G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821413	0.02755	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61742	0.08;0.22;2.4;0.66;0.67	4.91	2.05	0.26809	.	0.754197	0.12944	N	0.426341	T	0.44201	0.1282	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.20261	0.043;0.003;0.006;0.001	B;B;B;B	0.17722	0.019;0.004;0.009;0.001	T	0.26849	-1.0091	10	0.18276	T	0.48	-3.9224	5.9473	0.19225	0.116:0.5845:0.2189:0.0806	.	583;736;736;736	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	736;636;251;736;583;736	ENSP00000205214:C736S;ENSP00000423760:C636S;ENSP00000392158:C251S;ENSP00000409656:C736S;ENSP00000421171:C736S	ENSP00000205214:C736S	C	-	2	0	AASDH	56910467	0.000000	0.05858	0.068000	0.19968	0.035000	0.12851	-0.454000	0.06770	0.637000	0.30526	-0.284000	0.09977	TGT		0.428	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		43	558	0	0	0	1	0	43	558					G	57215710	C	G	57215710	3	3	79	1	0	0	0	0	1	0	0	0	22	478	17	5	1109	5	AASDH	4	57215710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21783	57215710	133938566	5294	15611											
AASDH	132949	broad.mit.edu	37	chr4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggctaagcaatgctttaGcctcagatccatgtgttctt	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000205214.6	-	4	742	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	188					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAATGCTTTAGCCTCAGATCC	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(562-564)Cta>Ata		aminoadipate-semialdehyde dehydrogenase							203	169	181					4																	57244420		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244420G>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.562C>A	4.37:g.57244420G>T	ENSP00000205214:p.Leu188Ile					AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I	p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			4	742	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	188					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.562C>A	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	9.060	0.994318	0.19043	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;1.01;2.85;0.78	5.95	1.76	0.24704	AMP-dependent synthetase/ligase (1);	2.018060	0.02117	N	0.055319	T	0.47414	0.1444	L	0.52011	1.625	0.09310	N	1	B;P;B;B	0.36125	0.279;0.538;0.396;0.45	B;B;B;B	0.35859	0.053;0.178;0.192;0.212	T	0.46610	-0.9179	10	0.37606	T	0.19	2.3294	12.1516	0.54053	0.0746:0.5225:0.4029:0.0	.	35;188;188;188	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	188;88;188;35;188	ENSP00000205214:L188I;ENSP00000423760:L88I;ENSP00000409656:L188I;ENSP00000421171:L188I	ENSP00000205214:L188I	L	-	1	2	AASDH	56939177	0.001000	0.12720	0.050000	0.19076	0.453000	0.32348	0.815000	0.27253	0.827000	0.34685	-0.175000	0.13238	CTA		0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		111	435	1	0	7.036e-43	1	8.57727e-43	111	435					T	57244420	G	T	57244420	3	4	79	1	0	0	0	0	1	0	0	0	22	962	34	3	2782	3	AASDH	4	57244420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28710	57244420	133909856	5295	15612											
PPAT	5471	broad.mit.edu	37	chr4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagagcagcaggcgtagcaGattctggaacagtgctaacc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AGGCGTAGCAGATTCTGGAAC	0.458																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(979-981)tCt>tTt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						146	142	143					4																	57266984		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57266984G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.980C>T	4.37:g.57266984G>A	ENSP00000264220:p.Ser327Phe						p.S327F	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			8	1117	-	Glioma(25;0.08)|all_neural(26;0.101)		327						Missense_Mutation	SNP	ENST00000264220.2	37	c.980C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069123	0.93950	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98646	4.29	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97111	0.9804	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	F	327	ENSP00000264220:S327F	ENSP00000264220:S327F	S	-	2	0	PPAT	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT		0.458	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		144	601	0	0	0	1	0	144	601					A	57266984	G	A	57266984	3	1	79	1	0	0	0	0	1	0	0	0	12344	942	33	2	589	2	PPAT	4	57266984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22564	57266984	133887292	5296	15613											
PPAT	5471	broad.mit.edu	37	chr4	57269561	57269561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaccaataccatgacGcagaagctatatagaaaaaa	7	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	ENST00000264220.2	-	4	546	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	137	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	ATACCATGACGCAGAAGCTAT	0.448																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(409-411)Cgt>Tgt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						53	52	53					4																	57269561		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57269561G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.409C>T	4.37:g.57269561G>A	ENSP00000264220:p.Arg137Cys					PPAT_ENST00000507648.1_5'UTR	p.R137C	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			4	546	-	Glioma(25;0.08)|all_neural(26;0.101)		137			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.409C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659912	0.67586	.	.	ENSG00000128059	ENST00000264220	T	0.77098	-1.07	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	D	0.88575	0.3132	10	0.62326	D	0.03	-13.6926	19.4001	0.94625	0.0:0.0:1.0:0.0	.	137	Q06203	PUR1_HUMAN	C	137	ENSP00000264220:R137C	ENSP00000264220:R137C	R	-	1	0	PPAT	56964318	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.360000	0.59455	2.593000	0.87608	0.655000	0.94253	CGT		0.448	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		24	235	0	0	0	1	0	24	235					A	57269561	G	A	57269561	3	1	79	1	0	0	0	0	1	0	0	0	12344	1087	38	1	1176	1	PPAT	4	57269561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2577	57269561	133884715	5297	15614											
PAICS	10606	broad.mit.edu	37	chr4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttgctgaaccaataggtCttggctgttcaaccgtactt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000512576.1	+	9	1275	c.1114C>A	c.(1114-1116)Ctt>Att	p.L372I	PAICS_ENST00000264221.2_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000514888.1_Missense_Mutation_p.L280I	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	372	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(838-840)Ctt>Att		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						74	64	67					4																	57325540		1858	4096	5954	SO:0001583	missense	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57325540C>A	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.1114C>A	4.37:g.57325540C>A	ENSP00000421096:p.Leu372Ile					PAICS_ENST00000512576.1_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000264221.2_Missense_Mutation_p.L372I	p.L280I			P22234	PUR6_HUMAN			10	1353	+	Glioma(25;0.08)|all_neural(26;0.101)		372			AIR carboxylase.		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	c.838C>A	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742328	0.49151	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.38401	1.15;1.15;1.14;1.15;1.15	5.05	2.22	0.28083	Phosphoribosylaminoimidazole carboxylase, core (4);	0.194207	0.46145	N	0.000319	T	0.25606	0.0623	N	0.17838	0.53	0.51482	D	0.999922	B;B;B	0.26445	0.149;0.002;0.149	B;B;B	0.33960	0.173;0.009;0.173	T	0.05257	-1.0896	10	0.38643	T	0.18	-5.3966	10.9869	0.47526	0.1347:0.5904:0.2749:0.0	.	372;379;372	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	I	280;372;372;379;372	ENSP00000424907:L280I;ENSP00000264221:L372I;ENSP00000424053:L372I;ENSP00000382595:L379I;ENSP00000421096:L372I	ENSP00000264221:L372I	L	+	1	0	PAICS	57020297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.515000	0.53429	0.191000	0.20236	0.585000	0.79938	CTT		0.403	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		19	107	1	0	8.28177e-16	1	9.06825e-16	19	107					A	57325540	C	A	57325540	3	1	79	1	0	0	0	0	1	0	0	0	11437	913	32	3	1173	3	PAICS	4	57325540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55979	57325540	133828736	5298	15615											
PAICS	10606	broad.mit.edu	37	chr4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttggctgttcaaccgTactttctccagaaggatcag	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000512576.1	+	9	1291	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	PAICS_ENST00000264221.2_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000514888.1_Missense_Mutation_p.V285A	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	377	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(853-855)gTa>gCa		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						71	64	66					4																	57325556		1871	4110	5981	SO:0001583	missense	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57325556T>C	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.1130T>C	4.37:g.57325556T>C	ENSP00000421096:p.Val377Ala					PAICS_ENST00000512576.1_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000264221.2_Missense_Mutation_p.V377A	p.V285A			P22234	PUR6_HUMAN			10	1369	+	Glioma(25;0.08)|all_neural(26;0.101)		377			AIR carboxylase.		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	c.854T>C	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515929	0.44763	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.55413	0.52;0.55;0.56;0.53;0.55	5.05	5.05	0.67936	Phosphoribosylaminoimidazole carboxylase, core (4);	0.319515	0.37304	N	0.002152	T	0.53932	0.1827	M	0.77313	2.365	0.29385	N	0.863062	B;B;B	0.17038	0.02;0.009;0.02	B;B;B	0.27380	0.079;0.025;0.079	T	0.53795	-0.8388	10	0.36615	T	0.2	-11.3974	9.9633	0.41710	0.0:0.0867:0.0:0.9133	.	377;384;377	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	A	285;377;377;384;377	ENSP00000424907:V285A;ENSP00000264221:V377A;ENSP00000424053:V377A;ENSP00000382595:V384A;ENSP00000421096:V377A	ENSP00000264221:V377A	V	+	2	0	PAICS	57020313	0.966000	0.33281	0.990000	0.47175	0.988000	0.76386	5.608000	0.67654	2.036000	0.60181	0.477000	0.44152	GTA		0.383	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		18	109	0	0	0	1	0	18	109					C	57325556	T	C	57325556	3	2	79	1	0	0	0	0	1	0	0	0	11437	1638	57	4	1189	4	PAICS	4	57325556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	57325556	133828720	5299	15616											
SRP72	6731	broad.mit.edu	37	chr4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagggacccagggaGcaactgcaggagcttcatct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	605					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GACCCAGGGAGCAACTGCAGG	0.453																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(1813-1815)Gca>Tca		signal recognition particle 72kDa							44	44	44					4																	57366836		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57366836G>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1813G>T	4.37:g.57366836G>T	ENSP00000342181:p.Ala605Ser					SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	p.A605S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			18	2534	+	Glioma(25;0.08)|all_neural(26;0.101)		605					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.1813G>T	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234601	0.22626	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.78246	-1.16;-1.14	5.94	4.99	0.66335	.	0.231906	0.43919	D	0.000502	T	0.60612	0.2282	N	0.19112	0.55	0.43091	D	0.994761	B;B	0.21821	0.061;0.008	B;B	0.16289	0.015;0.003	T	0.55717	-0.8097	10	0.23302	T	0.38	.	9.6069	0.39639	0.1236:0.0:0.8764:0.0	.	544;605	G5E9Z8;O76094	.;SRP72_HUMAN	S	605;550;544	ENSP00000342181:A605S;ENSP00000424576:A544S	ENSP00000342181:A605S	A	+	1	0	SRP72	57061593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.681000	0.46926	2.807000	0.96579	0.591000	0.81541	GCA		0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			43	176	1	0	2.26627e-22	1	2.56399e-22	43	176					T	57366836	G	T	57366836	3	4	79	1	0	0	0	0	1	0	0	0	15209	971	34	3	1883	3	SRP72	4	57366836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41280	57366836	133787440	5300	15617											
REST	5978	broad.mit.edu	37	chr4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttatggccacccaggtaaTggggcagtcttctggaggag	15	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	6					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCAGGTAATGGGGCAGTCT	0.448																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(16-18)aTg>aCg		RE1-silencing transcription factor							58	49	52					4																	57776821		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57776821T>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.17T>C	4.37:g.57776821T>C	ENSP00000311816:p.Met6Thr						p.M6T	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	331	+	Glioma(25;0.08)|all_neural(26;0.181)		6					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.17T>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867927	0.72065	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09255	3.0	5.79	5.79	0.91817	.	0.160766	0.44688	D	0.000440	T	0.10937	0.0267	L	0.44542	1.39	0.39693	D	0.971072	B;P	0.42827	0.066;0.791	B;B	0.35859	0.068;0.212	T	0.03268	-1.1054	10	0.87932	D	0	-22.3791	14.0692	0.64851	0.0:0.0:0.0:1.0	.	6;6	Q13127-2;Q13127	.;REST_HUMAN	T	6	ENSP00000311816:M6T	ENSP00000311816:M6T	M	+	2	0	REST	57471578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	2.212000	0.71576	0.459000	0.35465	ATG		0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		42	154	0	0	0	1	0	42	154					C	57776821	T	C	57776821	3	2	79	1	0	0	0	0	1	0	0	0	13284	1464	51	4	19	4	REST	4	57776821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	409985	57776821	133377455	5301	15618											
REST	5978	broad.mit.edu	37	chr4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaacatggaactgagaAgtttggaactcagcgtcgta	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	113	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTGAGAAGTTTGGAACT	0.433																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(337-339)Agt>Cgt		RE1-silencing transcription factor							68	67	68					4																	57777141		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777141A>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.337A>C	4.37:g.57777141A>C	ENSP00000311816:p.Ser113Arg						p.S113R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	651	+	Glioma(25;0.08)|all_neural(26;0.181)		113			Interaction with SIN3A.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.337A>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822436	0.32237	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10005	2.92	5.78	0.215	0.15253	.	0.437967	0.23277	N	0.049948	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	P;D	0.63046	0.944;0.992	P;P	0.59487	0.499;0.858	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.9595	1.5661	0.02605	0.5494:0.1094:0.1623:0.179	.	113;113	Q13127-2;Q13127	.;REST_HUMAN	R	113	ENSP00000311816:S113R	ENSP00000311816:S113R	S	+	1	0	REST	57471898	0.008000	0.16893	0.004000	0.12327	0.060000	0.15804	0.307000	0.19296	0.452000	0.26830	-0.250000	0.11733	AGT		0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		58	325	0	0	0	1	0	58	325					C	57777141	A	C	57777141	3	2	79	1	0	0	0	0	1	0	0	0	13284	72	3	4	339	4	REST	4	57777141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320	57777141	133377135	5302	15619											
REST	5978	broad.mit.edu	37	chr4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccactgcagaagagggaGatttctccaagggccccatt	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	210					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAGAGGGAGATTTCTCCAA	0.493																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(628-630)Gat>Tat		RE1-silencing transcription factor							56	55	55					4																	57777432		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777432G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.628G>T	4.37:g.57777432G>T	ENSP00000311816:p.Asp210Tyr					REST_ENST00000514063.1_3'UTR	p.D210Y	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	942	+	Glioma(25;0.08)|all_neural(26;0.181)		210					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.628G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832111	0.71258	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10099	2.91	6.02	6.02	0.97574	.	0.162464	0.41097	D	0.000954	T	0.33673	0.0871	M	0.61703	1.905	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.72075	0.956;0.976	T	0.00349	-1.1798	10	0.72032	D	0.01	-26.9232	20.1358	0.98028	0.0:0.0:1.0:0.0	.	210;210	Q13127-2;Q13127	.;REST_HUMAN	Y	210	ENSP00000311816:D210Y	ENSP00000311816:D210Y	D	+	1	0	REST	57472189	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.441000	0.97557	2.865000	0.98341	0.655000	0.94253	GAT		0.493	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		41	281	1	0	2.35958e-20	1	2.64308e-20	41	281					T	57777432	G	T	57777432	3	4	79	1	0	0	0	0	1	0	0	0	13284	942	33	3	630	3	REST	4	57777432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	57777432	133376844	5303	15620											
REST	5978	broad.mit.edu	37	chr4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaagtgtaatctacaGtatcacttcaaatctaagca	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	405	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAATCTACAGTATCACTTCA	0.388																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1213-1215)caG>caT		RE1-silencing transcription factor							146	144	145					4																	57796239		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796239G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1215G>T	4.37:g.57796239G>T	ENSP00000311816:p.Gln405His						p.Q405H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1529	+	Glioma(25;0.08)|all_neural(26;0.181)		405			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1215G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547197	0.65311	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.42900	0.96	5.8	1.01	0.19927	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	L	0.54323	1.7	0.53005	D	0.999968	D;P	0.61697	0.99;0.89	P;B	0.52424	0.698;0.286	T	0.28870	-1.0030	10	0.72032	D	0.01	-13.699	6.4542	0.21920	0.3222:0.114:0.5638:0.0	.	382;405	F8WAN5;Q13127	.;REST_HUMAN	H	405;405;382	ENSP00000311816:Q405H	ENSP00000311816:Q405H	Q	+	3	2	REST	57490996	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	2.740000	0.47418	-0.130000	0.11599	-0.175000	0.13238	CAG		0.388	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		96	529	1	0	4.04957e-52	1	5.03512e-52	96	529					T	57796239	G	T	57796239	3	4	79	1	0	0	0	0	1	0	0	0	13284	1020	36	3	1225	3	REST	4	57796239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18807	57796239	133358037	5304	15621											
REST	5978	broad.mit.edu	37	chr4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagtggaggagaataaAaagcaaaatacttgcatgaa	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	569	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAGAATAAAAAGCAAAATA	0.343																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1705-1707)aaA>aaC		RE1-silencing transcription factor							18	20	19					4																	57796731		2187	4290	6477	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796731A>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1707A>C	4.37:g.57796731A>C	ENSP00000311816:p.Lys569Asn						p.K569N	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2021	+	Glioma(25;0.08)|all_neural(26;0.181)		569			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1707A>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931575	0.52866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.42513	0.97	5.59	-1.26	0.09376	.	0.631179	0.15334	N	0.267877	T	0.56673	0.2001	M	0.71581	2.175	0.47905	D	0.999548	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.843	T	0.58612	-0.7606	10	0.62326	D	0.03	-5.6695	10.1506	0.42791	0.6404:0.0:0.3596:0.0	.	546;569	F8WAN5;Q13127	.;REST_HUMAN	N	569;546	ENSP00000311816:K569N	ENSP00000311816:K569N	K	+	3	2	REST	57491488	0.997000	0.39634	0.279000	0.24732	0.478000	0.33099	0.618000	0.24373	-0.182000	0.10602	-0.366000	0.07423	AAA		0.343	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		8	141	0	0	0	1	0	8	141					C	57796731	A	C	57796731	3	2	79	1	0	0	0	0	1	0	0	0	13284	11	1	4	1717	4	REST	4	57796731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	492	57796731	133357545	5305	15622											
REST	5978	broad.mit.edu	37	chr4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaacctgttgagaagGgatctgctcagatggaccct	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	604	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTTGAGAAGGGATCTGCTCA	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1810-1812)Gga>Aga		RE1-silencing transcription factor							29	30	30					4																	57796834		2190	4285	6475	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796834G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1810G>A	4.37:g.57796834G>A	ENSP00000311816:p.Gly604Arg						p.G604R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2124	+	Glioma(25;0.08)|all_neural(26;0.181)		604			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1810G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738503	0.15574	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06849	3.25	4.23	4.23	0.50019	.	1.495820	0.04005	N	0.297113	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	0.999993	B;B	0.12013	0.004;0.005	B;B	0.18263	0.021;0.005	T	0.25984	-1.0116	10	0.37606	T	0.19	1.0E-4	14.3745	0.66865	0.0:0.0:1.0:0.0	.	581;604	F8WAN5;Q13127	.;REST_HUMAN	R	604;581	ENSP00000311816:G604R	ENSP00000311816:G604R	G	+	1	0	REST	57491591	0.024000	0.19004	0.011000	0.14972	0.003000	0.03518	1.939000	0.40213	2.273000	0.75805	0.491000	0.48974	GGA		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		40	169	0	0	0	1	0	40	169					A	57796834	G	A	57796834	3	1	79	1	0	0	0	0	1	0	0	0	13284	1233	43	2	1820	2	REST	4	57796834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	57796834	133357442	5306	15623											
REST	5978	broad.mit.edu	37	chr4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggtccagaaggaacCtgttaagatagagctgtctc	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	760	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAAGGAACCTGTTAAGATA	0.557																																						ENST00000309042.7																			1	Deletion - In frame(1)	p.M753_P768delMEVVQKEPVKIELSPP(1)	central_nervous_system(1)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2278-2280)cCt>cAt		RE1-silencing transcription factor							255	270	264					4																	57797303		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797303C>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2279C>A	4.37:g.57797303C>A	ENSP00000311816:p.Pro760His						p.P760H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2593	+	Glioma(25;0.08)|all_neural(26;0.181)		760			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2279C>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442522	0.25987	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08896	3.04	2.6	-0.484	0.12071	.	1.788680	0.03034	N	0.152446	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.11155	-1.0599	10	0.27785	T	0.31	0.3888	2.2674	0.04082	0.1999:0.4953:0.1803:0.1245	.	737;760	F8WAN5;Q13127	.;REST_HUMAN	H	760;737	ENSP00000311816:P760H	ENSP00000311816:P760H	P	+	2	0	REST	57492060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.167000	0.10871	-0.479000	0.04858	CCT		0.557	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		48	2084	1	0	2.94398e-08	1	3.0722e-08	48	2084					A	57797303	C	A	57797303	3	1	79	1	0	0	0	0	1	0	0	0	13284	681	24	3	2289	3	REST	4	57797303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	57797303	133356973	5307	15624											
C4orf14	84273	broad.mit.edu	37	chr4	57843518	57843518	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggttgcggctccggatccagGatgtactccgggaacagaaa	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57843518G>T	ENST00000264230.4	-	1	1471	c.234C>A	c.(232-234)atC>atA	p.I78I	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	78					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CCGGATCCAGGATGTACTCCG	0.627																																						ENST00000264230.4																			0											c.(232-234)atC>atA		nitric oxide associated 1							61	58	59					4																	57843518		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843518G>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.234C>A	4.37:g.57843518G>T							p.I78I	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1471	-			78					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.234C>A	CCDS3510.1																																																																																				0.627	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		66	267	1	0	2.49587e-40	1	3.02561e-40	66	267					T	57843518	G	T	57843518	2	4	79	1	0	0	0	0	0	0	0	1	2258	1164	41	3		3	C4orf14	4	57843518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46215	57843518	133310758	5308	15625											
POLR2B	5431	broad.mit.edu	37	chr4	57876529	57876529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctatttttttctaggtGttaaaccgcctgacttttgc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	ENST00000381227.1	+	12	1820	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000441246.2_Silent_p.V462V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	469					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTCTAGGTGTTAAACCGCC	0.373																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1405-1407)gtG>gtA		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							114	121	119					4																	57876529		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876529G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1407G>A	4.37:g.57876529G>A						POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.V469V	p.V469V			P30876	RPB2_HUMAN			12	1820	+	Glioma(25;0.08)|all_neural(26;0.181)		469					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1407G>A	CCDS3511.1																																																																																				0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		62	769	0	0	0	1	0	62	769					A	57876529	G	A	57876529	2	1	79	1	0	0	0	0	0	0	0	1	12257	1364	48	2		2	POLR2B	4	57876529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33011	57876529	133277747	5309	15626											
POLR2B	5431	broad.mit.edu	37	chr4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactctgttatcatgaatcGttcagctgtagaccgcggct	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	798					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCATGAATCGTTCAGCTGTA	0.353																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2392-2394)cGt>cAt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127	117	120					4																	57887134		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57887134G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2393G>A	4.37:g.57887134G>A	ENSP00000370625:p.Arg798His					POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H	p.R798H			P30876	RPB2_HUMAN			18	2806	+	Glioma(25;0.08)|all_neural(26;0.181)		798					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2393G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306685	0.95629	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.108661	0.64402	D	0.000005	T	0.77585	0.4152	L	0.49571	1.57	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.44477	0.451;0.451	T	0.80692	-0.1269	10	0.87932	D	0	.	17.8818	0.88842	0.0:0.0:1.0:0.0	.	723;798	C9J4M6;P30876	.;RPB2_HUMAN	H	798;723;791;798	ENSP00000370625:R798H;ENSP00000391096:R723H;ENSP00000391452:R791H;ENSP00000312735:R798H	ENSP00000312735:R798H	R	+	2	0	POLR2B	57581891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	2.657000	0.90304	0.655000	0.94253	CGT		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		80	351	0	0	0	1	0	80	351					A	57887134	G	A	57887134	3	1	79	1	0	0	0	0	1	0	0	0	12257	1145	40	1	2459	1	POLR2B	4	57887134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10605	57887134	133267142	5310	15627											
LPHN3	23284	broad.mit.edu	37	chr4	62598530	62598530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaacatttgtttgagtcCgaccaccaatctggggcgtg	12	9	1	2	rs187372699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000514591.1	+	7	782	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000512091.2_Silent_p.S151S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000506720.1_Silent_p.S219S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	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)			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						TGTTTGAGTCCGACCACCAAT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16931	0.0		0.0	False		,,,				2504	0.0					ENST00000512091.1																			0				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						c.(451-453)tcC>tcT		latrophilin 3		C		0,3744		0,0,1872	36	33	34		453	-11.5	0.1	4		34	1,8201		0,1,4100	no	coding-synonymous	LPHN3	NM_015236.4		0,1,5972	TT,TC,CC		0.0122,0.0,0.0084		151/1470	62598530	1,11945	1872	4101	5973	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598530C>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.453C>T	4.37:g.62598530C>T						LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000514591.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000506720.1_Silent_p.S219S	p.S151S			Q9HAR2	LPHN3_HUMAN			7	1200	+			151			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.453C>T	CCDS54768.1																																																																																				0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			16	67	0	0	0	1	0	16	67					T	62598530	C	T	62598530	2	4	79	1	0	0	0	0	0	0	0	1	8955	639	23	1		1	LPHN3	4	62598530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4711396	62598530	128555746	5311	15628											
LPHN3	23284	broad.mit.edu	37	chr4	62599163	62599163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcctaattcataccaGtacattgcagctgtggatta	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000514591.1	+	7	1415	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000512091.2_Silent_p.Q362Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	362	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)			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						ATTCATACCAGTACATTGCAG	0.393																																						ENST00000512091.1																			0				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						c.(1084-1086)caG>caA		latrophilin 3							104	92	96					4																	62599163		1921	4131	6052	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599163G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1086G>A	4.37:g.62599163G>A						LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000514591.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q	p.Q362Q			Q9HAR2	LPHN3_HUMAN			7	1833	+			362			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1086G>A	CCDS54768.1																																																																																				0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			26	138	0	0	0	1	0	26	138					A	62599163	G	A	62599163	2	1	79	1	0	0	0	0	0	0	0	1	8955	1020	36	2		2	LPHN3	4	62599163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	633	62599163	128555113	5312	15629											
EPHA5	2044	broad.mit.edu	37	chr4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccaacaagctgaatcAcagtgaactgcccatcgttt	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			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						AAGCTGAATCACAGTGAACTG	0.423										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(2320-2322)gTg>gCg		EPH receptor A5							103	92	96					4																	66217294		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217294A>G	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.2321T>C	4.37:g.66217294A>G	ENSP00000273854:p.Val774Ala	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A	p.V774A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			14	2921	-			774			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2321T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702208	0.88924	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000103	T	0.62319	0.2418	N	0.05383	-0.06	0.80722	D	1	P;D;P;D	0.63880	0.91;0.992;0.89;0.993	P;D;P;D	0.69142	0.846;0.962;0.761;0.916	T	0.69435	-0.5146	10	0.49607	T	0.09	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	753;775;752;774	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	774;611;752;775	ENSP00000273854:V774A;ENSP00000389208:V611A;ENSP00000346899:V752A;ENSP00000427638:V775A	ENSP00000273854:V774A	V	-	2	0	EPHA5	65899889	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.497000	0.81536	2.202000	0.70862	0.477000	0.44152	GTG		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		49	264	0	0	0	1	0	49	264					G	66217294	A	G	66217294	3	3	79	1	0	0	0	0	1	0	0	0	5188	159	6	4	812	4	EPHA5	4	66217294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3618131	66217294	124936982	5313	15630											
EPHA5	2044	broad.mit.edu	37	chr4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttagatttgataatcGtgtagctggtctcttggtcc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						TTTGATAATCGTGTAGCTGGT	0.388										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(1546-1548)aCg>aTg		EPH receptor A5							173	139	151					4																	66280142		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66280142G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1547C>T	4.37:g.66280142G>A	ENSP00000273854:p.Thr516Met	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M	p.T516M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			7	2147	-			516			Fibronectin type-III 2.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1547C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533607	0.85812	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.74176	0.3682	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;1.0;0.991	T	0.71556	-0.4557	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516;516	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	516;352;516;516	ENSP00000273854:T516M;ENSP00000389208:T352M;ENSP00000346899:T516M;ENSP00000427638:T516M	ENSP00000273854:T516M	T	-	2	0	EPHA5	65962737	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	ACG		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		69	393	0	0	0	1	0	69	393					A	66280142	G	A	66280142	3	1	79	1	0	0	0	0	1	0	0	0	5188	1145	40	1	1614	1	EPHA5	4	66280142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62848	66280142	124874134	5314	15631											
EPHA5	2044	broad.mit.edu	37	chr4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttgtggttacatttaCagacacatactgccgggctc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	460	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GTTACATTTACAGACACATAC	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(1378-1380)Gta>Ata		EPH receptor A5							83	67	72					4																	66356119		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356119C>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.1378G>A	4.37:g.66356119C>T	ENSP00000273854:p.Val460Ile	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I	p.V460I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1978	-			460					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1378G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790228	0.50102	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.55234	0.53;0.53;0.53	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.60090	0.2242	L	0.46157	1.445	0.42608	D	0.993307	B;B;P;B	0.36330	0.413;0.017;0.548;0.129	B;B;P;B	0.46237	0.311;0.027;0.508;0.026	T	0.52381	-0.8583	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	460;460;460;460	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	460	ENSP00000273854:V460I;ENSP00000346899:V460I;ENSP00000427638:V460I	ENSP00000273854:V460I	V	-	1	0	EPHA5	66038714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	2.894000	0.99253	0.591000	0.81541	GTA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		59	252	0	0	0	1	0	59	252					T	66356119	C	T	66356119	3	4	79	1	0	0	0	0	1	0	0	0	5188	478	17	2	1791	2	EPHA5	4	66356119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75977	66356119	124798157	5315	15632											
EPHA5	2044	broad.mit.edu	37	chr4	66356255	66356255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgctttgccggggaagGtacctgacatgaccgccaca	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000511294.1_Silent_p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	414	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GCCGGGGAAGGTACCTGACAT	0.493										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(1240-1242)taC>taT		EPH receptor A5							122	95	104					4																	66356255		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356255G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1242C>T	4.37:g.66356255G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y	p.Y414Y	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1842	-			414			Fibronectin type-III 1.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1242C>T	CCDS3513.1																																																																																				0.493	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		54	268	0	0	0	1	0	54	268					A	66356255	G	A	66356255	2	1	79	1	0	0	0	0	0	0	0	1	5188	1256	44	2		2	EPHA5	4	66356255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	66356255	124798021	5316	15633											
EPHA5	2044	broad.mit.edu	37	chr4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttcacagacacaagaggTtgaagcttcctcatgggtat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	334	Cys-rich.				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)			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						ACACAAGAGGTTGAAGCTTCC	0.478										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(1000-1002)Acc>Tcc		EPH receptor A5							167	163	164					4																	66361172		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361172T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1000A>T	4.37:g.66361172T>A	ENSP00000273854:p.Thr334Ser	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S	p.T334S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1600	-			334			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1000A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018682	0.35606	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97378	1.64;1.64;-4.36	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.95095	0.8411	L	0.33668	1.02	0.29807	N	0.831938	B;B;P;B	0.35507	0.373;0.024;0.506;0.021	B;B;B;B	0.43123	0.232;0.016;0.409;0.012	D	0.90807	0.4698	10	0.15066	T	0.55	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	334;334;334;334	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	334	ENSP00000273854:T334S;ENSP00000346899:T334S;ENSP00000427638:T334S	ENSP00000273854:T334S	T	-	1	0	EPHA5	66043767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.137000	0.50562	2.235000	0.73313	0.377000	0.23210	ACC		0.478	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		122	554	0	0	0	1	0	122	554					A	66361172	T	A	66361172	3	1	79	1	0	0	0	0	1	0	0	0	5188	1725	60	5	2173	5	EPHA5	4	66361172	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4917	66361172	124793104	5317	15634											
CENPC1	1060	broad.mit.edu	37	chr4	68374686	68374686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttggttgcctttagttgCtgtcttctgccttttaagtg	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68374686C>A	ENST00000273853.6	-	10	2000	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	584					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.A584P(1)									CCTTTAGTTGCTGTCTTCTGC	0.373																																						ENST00000273853.6																			1	Substitution - Missense(1)	p.A584P(1)	lung(1)								c.(1750-1752)Gca>Tca		centromere protein C							169	155	160					4																	68374686		1839	4092	5931	SO:0001583	missense	1060							g.chr4:68374686C>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1750G>T	4.37:g.68374686C>A	ENSP00000273853:p.Ala584Ser						p.A584S	NM_001812.2	NP_001803.2					10	2000	-								Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1750G>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684186	0.00745	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.0	-3.06	0.05379	.	1.153350	0.06379	N	0.714930	T	0.18718	0.0449	L	0.33485	1.01	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.15052	0.009;0.012	T	0.23691	-1.0181	9	0.10111	T	0.7	0.0165	0.4049	0.00431	0.3724:0.2328:0.1404:0.2544	.	584;584	Q8IW27;Q03188	.;CENPC_HUMAN	S	584	.	ENSP00000273853:A584S	A	-	1	0	CENPC1	68057281	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.459000	0.02370	-0.425000	0.07371	0.650000	0.86243	GCA		0.373	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			78	428	1	0	8.87156e-34	1	1.0529e-33	78	428					A	68374686	C	A	68374686	3	1	79	1	0	0	0	0	1	0	0	0	3238	797	28	3	1121	3	CENPC1	4	68374686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2013514	68374686	122779590	5318	15635											
UBA6	55236	broad.mit.edu	37	chr4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataattttaccagctatgcGctttgttttgaaacggtcag	8	7	1	1	rs375871246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2653-2655)Cgc>Tgc		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	126	115	118		2653	5.5	1	4		118	1,8597	1.2+/-3.3	0,1,4298	no	missense	UBA6	NM_018227.5	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	885/1053	68490771	1,13003	2203	4299	6502	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68490771G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2653C>T	4.37:g.68490771G>A	ENSP00000313454:p.Arg885Cys						p.R885C	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			29	2712	-			885					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2653C>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787040	0.70337	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.46451	0.87	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.69924	-0.5013	10	0.62326	D	0.03	-13.1519	17.6191	0.88076	0.0:0.0:1.0:0.0	.	885	A0AVT1	UBA6_HUMAN	C	885	ENSP00000313454:R885C	ENSP00000313454:R885C	R	-	1	0	UBA6	68173366	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	5.588000	0.67517	2.566000	0.86566	0.655000	0.94253	CGC		0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		69	263	0	0	0	1	0	69	263					A	68490771	G	A	68490771	3	1	79	1	0	0	0	0	1	0	0	0	16886	1087	38	1	525	1	UBA6	4	68490771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116085	68490771	122663505	5319	15636											
UBA6	55236	broad.mit.edu	37	chr4	68501275	68501275	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttagatttgctaagcaacGactatttgaaaagacagcaa	7	8	0	3	rs375294484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	580					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCTAAGCAACGACTATTTGAA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17202	0.0		0.0	False		,,,				2504	0.0					ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.e20-1		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	85	79	81		1738	5.1	1	4		81	1,8599		0,1,4299	no	missense-near-splice	UBA6	NM_018227.5	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	580/1053	68501275	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68501275G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1737-1C>T	4.37:g.68501275G>A							p.R580_splice	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			20	1797	-			580					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Splice_Site	SNP	ENST00000322244.5	37	c.1736_splice	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558085	0.86231	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.44881	0.91	5.11	5.11	0.69529	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.058855	0.64402	D	0.000002	T	0.65407	0.2688	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68864	-0.5296	10	0.66056	D	0.02	-19.9923	18.538	0.91018	0.0:0.0:1.0:0.0	.	580	A0AVT1	UBA6_HUMAN	C	580	ENSP00000313454:R580C	ENSP00000313454:R580C	R	-	1	0	UBA6	68183870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.194000	0.94962	2.379000	0.81126	0.460000	0.39030	CGT		0.363	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	Missense_Mutation	11	287	0	0	0	1	0	11	287					A	68501275	G	A	68501275	5	1	79	1	0	0	0	0	0	0	1	0	16886	1072	37	1	1476	1	UBA6	4	68501275	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10504	68501275	122653001	5320	15637											
GNRHR	2798	broad.mit.edu	37	chr4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttttgtctgtccagagCtgtctgctagatgaatcatc	8	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	186					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(556-558)aGc>aAc		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						150	145	146					4																	68610471		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610471C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.557G>A	4.37:g.68610471C>T	ENSP00000226413:p.Ser186Asn					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Intron|RP11-453E17.1_ENST00000502758.1_RNA	p.S186N	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	581	-			186					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.557G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020455	0.19433	.	.	ENSG00000109163	ENST00000226413	T	0.37752	1.18	5.29	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.648819	0.14767	N	0.299611	T	0.18509	0.0444	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.20519	T	0.43	1.8215	5.0319	0.14413	0.3642:0.4621:0.0:0.1736	.	186	P30968	GNRHR_HUMAN	N	186	ENSP00000226413:S186N	ENSP00000226413:S186N	S	-	2	0	GNRHR	68293066	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.042000	0.12063	0.234000	0.21139	0.643000	0.83706	AGC		0.358	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			102	497	0	0	0	1	0	102	497					T	68610471	C	T	68610471	3	4	79	1	0	0	0	0	1	0	0	0	6578	797	28	2	437	2	GNRHR	4	68610471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109196	68610471	122543805	5321	15638											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688070	68688070	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactagatcccagtttgTtgcctaatccagtcaaggta	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	414	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1240-1242)caA>caG		transmembrane protease, serine 11D							186	171	176					4																	68688070		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68688070T>C	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1242A>G	4.37:g.68688070T>C						TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q|RP11-453E17.1_ENST00000500538.2_RNA	p.Q414Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			10	1340	-			414			Peptidase S1.		Q08AF6	Silent	SNP	ENST00000283916.6	37	c.1242A>G	CCDS3518.1																																																																																				0.463	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		146	664	0	0	0	1	0	146	664					C	68688070	T	C	68688070	2	2	79	1	0	0	0	0	0	0	0	1	16293	1722	60	4		4	TMPRSS11D	4	68688070	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77599	68688070	122466206	5322	15639											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacgacaatgaaacatActacatatggattcagaaat	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	19					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(55-57)gTa>gCa		transmembrane protease, serine 11D							105	95	98					4																	68725349		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725349A>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.56T>C	4.37:g.68725349A>G	ENSP00000283916:p.Val19Ala					TMPRSS11D_ENST00000545541.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron	p.V19A	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			2	154	-			19					Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.56T>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713069	0.48517	.	.	ENSG00000153802	ENST00000283916	D	0.89050	-2.46	5.19	5.19	0.71726	.	0.542419	0.16615	N	0.206730	D	0.86703	0.5996	M	0.63843	1.955	0.42236	D	0.991915	P	0.46784	0.884	B	0.41466	0.358	D	0.85068	0.0938	10	0.31617	T	0.26	.	11.3687	0.49687	1.0:0.0:0.0:0.0	.	19	O60235	TM11D_HUMAN	A	19	ENSP00000283916:V19A	ENSP00000283916:V19A	V	-	2	0	TMPRSS11D	68407944	0.038000	0.19896	0.005000	0.12908	0.070000	0.16714	4.007000	0.57093	2.184000	0.69523	0.460000	0.39030	GTA		0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		39	204	0	0	0	1	0	39	204					G	68725349	A	G	68725349	3	3	79	1	0	0	0	0	1	0	0	0	16293	391	14	4	1236	4	TMPRSS11D	4	68725349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37279	68725349	122428927	5323	15640											
YTHDC1	91746	broad.mit.edu	37	chr4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcctggtatcgtggatcCtttaaataccctgttcaaac	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	565	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCGTGGATCCTTTAAATACC	0.323																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1693-1695)aaG>aaT		YTH domain containing 1							70	72	71					4																	69184570		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69184570C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1695G>T	4.37:g.69184570C>A	ENSP00000339245:p.Lys565Asn					YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N	p.K565N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			13	2030	-			565			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1695G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229728	0.58777	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	.	0.158661	0.64402	D	0.000016	T	0.27967	0.0689	N	0.19112	0.55	0.58432	D	0.999995	D;P	0.54964	0.969;0.895	P;P	0.50192	0.634;0.452	T	0.01397	-1.1365	10	0.36615	T	0.2	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	547;565	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	565;547	ENSP00000339245:K565N;ENSP00000347888:K547N	ENSP00000339245:K565N	K	-	3	2	YTHDC1	68867165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.396000	0.59684	2.662000	0.90505	0.655000	0.94253	AAG		0.323	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		28	344	1	0	4.4194e-11	1	4.70867e-11	28	344					A	69184570	C	A	69184570	3	1	79	1	0	0	0	0	1	0	0	0	17550	680	24	3	508	3	YTHDC1	4	69184570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459221	69184570	121969706	5324	15641											
YTHDC1	91746	broad.mit.edu	37	chr4	69197819	69197819	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagaactgatgctaatAccttcgctttggcaagagac	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1						mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATGCTAATACCTTCGCTTT	0.313																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.e7+1		YTH domain containing 1							105	98	100					4																	69197819		2203	4300	6503	SO:0001630	splice_region_variant	91746							g.chr4:69197819A>G	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1122+1T>C	4.37:g.69197819A>G						YTHDC1_ENST00000355665.3_Splice_Site|YTHDC1_ENST00000579690.1_Splice_Site		NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			7	1458	-								Q4W5Q3|Q7Z622|Q8TF35	Splice_Site	SNP	ENST00000344157.4	37		CCDS33992.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167816	0.57476	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3141	0.74059	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDC1	68880414	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.588000	0.74076	2.155000	0.67459	0.528000	0.53228	.		0.313	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	Intron	46	178	0	0	0	1	0	46	178					G	69197819	A	G	69197819	5	3	79	1	0	0	0	0	0	0	1	0	17550	405	14	4	1103	4	YTHDC1	4	69197819	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13249	69197819	121956457	5325	15642											
YTHDC1	91746	broad.mit.edu	37	chr4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctccatcttcatccacctCttcatcttcttctgcatctt	1	17	9	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	224	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcatccacctcttcatcttct	0.478																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(670-672)Gag>Aag		YTH domain containing 1							101	84	90					4																	69202958		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69202958C>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.670G>A	4.37:g.69202958C>T	ENSP00000339245:p.Glu224Lys					YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K	p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1005	-			224			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.670G>A	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358313	0.61403	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.65;1.63	5.45	5.45	0.79879	.	0.191891	0.43747	D	0.000523	T	0.18841	0.0452	N	0.14661	0.345	0.52099	D	0.999948	P;P	0.40476	0.718;0.596	B;B	0.35353	0.201;0.099	T	0.05767	-1.0865	10	0.13853	T	0.58	.	18.894	0.92416	0.0:1.0:0.0:0.0	.	224;224	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	K	224	ENSP00000339245:E224K;ENSP00000347888:E224K	ENSP00000339245:E224K	E	-	1	0	YTHDC1	68885553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.747000	0.74872	2.568000	0.86640	0.460000	0.39030	GAG		0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		19	112	0	0	0	1	0	19	112					T	69202958	C	T	69202958	3	4	79	1	0	0	0	0	1	0	0	0	17550	922	32	2	1569	2	YTHDC1	4	69202958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5139	69202958	121951318	5326	15643											
YTHDC1	91746	broad.mit.edu	37	chr4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacttcttccttagaagaCtggctggatctgcttgcacg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	168					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTTAGAAGACTGGCTGGATC	0.448																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(502-504)caG>caT		YTH domain containing 1							92	84	86					4																	69203124		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69203124C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.504G>T	4.37:g.69203124C>A	ENSP00000339245:p.Gln168His					YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H	p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	839	-			168					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.504G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974390	0.18736	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.31247	1.98;1.5	5.55	-0.464	0.12160	.	0.373282	0.30556	N	0.009378	T	0.07234	0.0183	N	0.01874	-0.695	0.26789	N	0.969434	B;B	0.14438	0.01;0.0	B;B	0.12837	0.008;0.0	T	0.18681	-1.0329	10	0.13108	T	0.6	.	0.0924	0.00041	0.2468:0.2578:0.1973:0.2981	.	168;168	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	168	ENSP00000339245:Q168H;ENSP00000347888:Q168H	ENSP00000339245:Q168H	Q	-	3	2	YTHDC1	68885719	0.346000	0.24844	1.000000	0.80357	0.992000	0.81027	-0.417000	0.07088	0.137000	0.18759	0.460000	0.39030	CAG		0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		86	375	1	0	2.43056e-48	1	2.99958e-48	86	375					A	69203124	C	A	69203124	3	1	79	1	0	0	0	0	1	0	0	0	17550	564	20	3	1735	3	YTHDC1	4	69203124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	69203124	121951152	5327	15644											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggctaggaaaagagTttgttgggaaccctgggtta	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(40-42)gTt>gGt		transmembrane protease, serine 11E							368	369	368					4																	69327568		2203	4296	6499	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69327568T>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.41T>G	4.37:g.69327568T>G	ENSP00000307519:p.Val14Gly						p.V14G	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			2	105	+			14					A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.41T>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135857	0.09032	.	.	ENSG00000087128	ENST00000305363	D	0.88431	-2.38	6.03	-3.21	0.05140	.	1.765520	0.03708	N	0.249810	T	0.72946	0.3524	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.60151	-0.7319	10	0.23302	T	0.38	.	1.6525	0.02775	0.116:0.3202:0.2232:0.3406	.	14	Q9UL52	TM11E_HUMAN	G	14	ENSP00000307519:V14G	ENSP00000307519:V14G	V	+	2	0	TMPRSS11E	69010163	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.299000	0.02754	-0.480000	0.06803	0.455000	0.32223	GTT		0.418	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		310	1348	0	0	0	1	0	310	1348					G	69327568	T	G	69327568	3	3	79	1	0	0	0	0	1	0	0	0	16294	1725	60	4	47	4	TMPRSS11E	4	69327568	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124444	69327568	121826708	5328	15645											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgacaagcacaggtgactCtcatagacgctacaacttgc	8	12	1	2	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L336F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353																																						ENST00000305363.4																			1	Substitution - Missense(1)	p.L336F(1)	skin(1)	endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1006-1008)Ctc>Ttc		transmembrane protease, serine 11E							161	154	157					4																	69344605		2203	4300	6503	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344605C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1006C>T	4.37:g.69344605C>T	ENSP00000307519:p.Leu336Phe						p.L336F	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			9	1070	+			336			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.1006C>T	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689438	0.14973	.	.	ENSG00000087128	ENST00000305363	D	0.90004	-2.6	5.31	0.312	0.15837	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.200210	0.06213	N	0.685374	D	0.87116	0.6097	M	0.76838	2.35	0.09310	N	0.999998	B	0.17667	0.023	B	0.19148	0.024	T	0.72836	-0.4172	10	0.56958	D	0.05	.	3.2715	0.06883	0.2626:0.3631:0.0:0.3743	.	336	Q9UL52	TM11E_HUMAN	F	336	ENSP00000307519:L336F	ENSP00000307519:L336F	L	+	1	0	TMPRSS11E	69027200	0.000000	0.05858	0.093000	0.20910	0.342000	0.28953	-0.337000	0.07852	0.316000	0.23135	0.655000	0.94253	CTC		0.353	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		131	630	0	0	0	1	0	131	630					T	69344605	C	T	69344605	3	4	79	1	0	0	0	0	1	0	0	0	16294	913	32	2	1040	2	TMPRSS11E	4	69344605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17037	69344605	121809671	5329	15646											
UGT2B15	7366	broad.mit.edu	37	chr4	69519975	69519975	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttggttttgggatgacCtaaaagtggatgcattttaa	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	ENST00000338206.5	-	5	1103		c.e5-1			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15						cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TTGGGATGACCTAAAAGTGGA	0.378																																						ENST00000338206.5																			0											c.e5-1		UDP glucuronosyltransferase 2 family, polypeptide B15							88	91	90					4																	69519975		2203	4295	6498	SO:0001630	splice_region_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519975C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1094-1G>A	4.37:g.69519975C>T								NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1103	-								A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Splice_Site	SNP	ENST00000338206.5	37		CCDS3524.1	.	.	.	.	.	.	.	.	.	.	.	6.810	0.518474	0.13005	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.57	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2985	0.26408	0.0:0.8554:0.0:0.1446	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B15	69202570	1.000000	0.71417	0.935000	0.37517	0.127000	0.20565	3.361000	0.52306	0.398000	0.25338	0.455000	0.32223	.		0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076	Intron	23	607	0	0	0	1	0	23	607					T	69519975	C	T	69519975	5	4	79	1	0	0	0	0	0	0	1	0	17012	695	24	2	2124	2	UGT2B15	4	69519975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175370	69519975	121634301	5330	15647											
UGT2B10	7365	broad.mit.edu	37	chr4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgtggtgagctgctggCtgagctatttaacataccct	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(478-480)gCt>gTt		UDP glucuronosyltransferase 2 family, polypeptide B10							139	135	137					4																	69682216		2202	4297	6499	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682216C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	4.37:g.69682216C>T	ENSP00000265403:p.Ala160Val					UGT2B10_ENST00000458688.2_Intron	p.A160V	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	506	+			160					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.479C>T		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT		0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		108	563	0	0	0	1	0	108	563					T	69682216	C	T	69682216	3	4	79	1	0	0	0	0	1	0	0	0	17010	797	28	2	481	2	UGT2B10	4	69682216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162241	69682216	121472060	5331	15648											
UGT2A3	79799	broad.mit.edu	37	chr4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcaccaaatatgggaactCccaccatagggaccccatgg	9	13	1	0	rs578203341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	390					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATGGGAACTCCCACCATAGG	0.403																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1168-1170)gGa>gAa		UDP glucuronosyltransferase 2 family, polypeptide A3							78	80	79					4																	69796399		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796399C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1169G>A	4.37:g.69796399C>T	ENSP00000251566:p.Gly390Glu					UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	p.G390E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1199	-			390					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1169G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533671	0.27387	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63580	-0.05;3.15	1.99	1.99	0.26369	.	0.060660	0.64402	D	0.000004	D	0.82403	0.5029	H	0.97291	3.975	0.35821	D	0.824608	D	0.89917	1.0	D	0.97110	1.0	D	0.83940	0.0311	10	0.54805	T	0.06	.	5.7269	0.18018	0.318:0.6819:0.0:0.0	.	390	Q6UWM9	UD2A3_HUMAN	E	390;101	ENSP00000251566:G390E;ENSP00000440115:G101E	ENSP00000251566:G390E	G	-	2	0	UGT2A3	69830988	0.959000	0.32827	0.429000	0.26710	0.147000	0.21601	2.751000	0.47508	1.094000	0.41399	0.491000	0.48974	GGA		0.403	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		35	417	0	0	0	1	0	35	417					T	69796399	C	T	69796399	3	4	79	1	0	0	0	0	1	0	0	0	17009	855	30	2	422	2	UGT2A3	4	69796399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114183	69796399	121357877	5332	15649											
UGT2B4	7363	broad.mit.edu	37	chr4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttctgacataacaacagGcacataggaaggagggaaca	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	195					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATAACAACAGGCACATAGGAA	0.388																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(583-585)Cct>Tct		UDP glucuronosyltransferase 2 family, polypeptide B4							74	72	73					4																	70360997		2191	4298	6489	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70360997G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.583C>T	4.37:g.70360997G>A	ENSP00000305221:p.Pro195Ser					UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	p.P195S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	629	-			195					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.583C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209295	0.58343	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62941	-0.01;-0.01;2.95	2.4	2.4	0.29515	.	0.000000	0.64402	U	0.000007	D	0.83166	0.5195	H	0.96269	3.795	0.35731	D	0.817919	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.994;0.987;1.0	D	0.89039	0.3447	10	0.87932	D	0	.	10.537	0.45009	0.0:0.0:1.0:0.0	.	59;195;195	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	S	195;195;59	ENSP00000421290:P195S;ENSP00000305221:P195S;ENSP00000370486:P59S	ENSP00000305221:P195S	P	-	1	0	UGT2B4	70395586	1.000000	0.71417	0.029000	0.17559	0.018000	0.09664	6.735000	0.74806	1.338000	0.45544	0.298000	0.19748	CCT		0.388	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		44	272	0	0	0	1	0	44	272					A	70360997	G	A	70360997	3	1	79	1	0	0	0	0	1	0	0	0	17015	1203	42	2	1027	2	UGT2B4	4	70360997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	564598	70360997	120793279	5333	15650											
SULT1B1	27284	broad.mit.edu	37	chr4	70599155	70599155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatcttcatagtacaaAaaaagtattgggtgttcttc	6	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.3	-	6	870	c.573T>G	c.(571-573)ttT>ttG	p.F191L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	191					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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATAGTACAAAAAAAGTATTG	0.343																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(571-573)ttT>ttG		sulfotransferase family, cytosolic, 1B, member 1							182	199	193					4																	70599155		2202	4300	6502	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.chr4:70599155A>C	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.573T>G	4.37:g.70599155A>C	ENSP00000308770:p.Phe191Leu						p.F191L	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			6	870	-			191					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.573T>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353006	0.61293	.	.	ENSG00000173597	ENST00000310613	D	0.82344	-1.6	4.42	0.613	0.17597	Sulfotransferase domain (1);	0.436101	0.19435	N	0.114331	D	0.83198	0.5202	M	0.80422	2.495	0.26873	N	0.967719	P	0.49696	0.927	P	0.46796	0.527	T	0.75947	-0.3138	10	0.62326	D	0.03	.	8.0085	0.30340	0.4717:0.0:0.5283:0.0	.	191	O43704	ST1B1_HUMAN	L	191	ENSP00000308770:F191L	ENSP00000308770:F191L	F	-	3	2	SULT1B1	70633744	1.000000	0.71417	0.476000	0.27291	0.794000	0.44872	2.399000	0.44495	0.111000	0.17947	-0.696000	0.03686	TTT		0.343	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		15	746	0	0	0	1	0	15	746					C	70599155	A	C	70599155	3	2	79	1	0	0	0	0	1	0	0	0	15428	11	1	4	329	4	SULT1B1	4	70599155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238158	70599155	120555121	5334	15651											
C4orf40	401137	broad.mit.edu	37	chr4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcatacggaatttaccacCtcctctttattatcgcccag	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		49	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(145-147)cCt>cAt		chromosome 4 open reading frame 40							183	166	171					4																	71024115		2203	4300	6503	SO:0001583	missense	401137					extracellular region		g.chr4:71024115C>A																												ENST00000344526.5:c.146C>A	4.37:g.71024115C>A	ENSP00000343172:p.Pro49His					C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H|C4orf40_ENST00000502441.2_Intron	p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	335	+			49					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.146C>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906477	0.33628	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.62639	0.01;0.01	3.24	1.51	0.23008	.	.	.	.	.	T	0.60064	0.2240	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.46652	-0.9176	9	0.37606	T	0.19	-5.0476	5.5143	0.16898	0.0:0.7401:0.0:0.2598	.	49	Q6MZM9	CD040_HUMAN	H	49	ENSP00000426249:P49H;ENSP00000343172:P49H	ENSP00000343172:P49H	P	+	2	0	C4orf40	71058704	0.009000	0.17119	0.001000	0.08648	0.010000	0.07245	1.449000	0.35123	0.397000	0.25310	-0.192000	0.12808	CCT		0.438	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			128	676	1	0	1.87287e-50	1	2.32076e-50	128	676					A	71024115	C	A	71024115	3	1	79	1	0	0	0	0	1	0	0	0	2276	681	24	3	156	3	C4orf40	4	71024115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424960	71024115	120130161	5335	15652											
C4orf40	401137	broad.mit.edu	37	chr4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttttcagcagctgcaGcacccgctgccccacctatt	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		123	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(367-369)Gca>Aca		chromosome 4 open reading frame 40							101	107	105					4																	71024336		2203	4300	6503	SO:0001583	missense	401137					extracellular region		g.chr4:71024336G>A																												ENST00000344526.5:c.367G>A	4.37:g.71024336G>A	ENSP00000343172:p.Ala123Thr					C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T|C4orf40_ENST00000502441.2_3'UTR	p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	556	+			123			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.367G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648313	0.29336	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32753	1.44;1.44	4.76	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.59487	0.858	T	0.08743	-1.0707	9	0.40728	T	0.16	-0.1649	6.191	0.20524	0.3191:0.0:0.6809:0.0	.	123	Q6MZM9	CD040_HUMAN	T	123	ENSP00000426249:A123T;ENSP00000343172:A123T	ENSP00000343172:A123T	A	+	1	0	C4orf40	71058925	0.003000	0.15002	0.000000	0.03702	0.078000	0.17371	0.868000	0.27982	0.548000	0.28955	0.609000	0.83330	GCA		0.577	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			149	711	0	0	0	1	0	149	711					A	71024336	G	A	71024336	3	1	79	1	0	0	0	0	1	0	0	0	2276	971	34	2	377	2	C4orf40	4	71024336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	71024336	120129940	5336	15653											
C4orf40	401137	broad.mit.edu	37	chr4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacacctgtagcagctgaGcctgctgcaggggcccctgt	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		147	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(439-441)gaG>gaT		chromosome 4 open reading frame 40							30	34	33					4																	71024410		2199	4293	6492	SO:0001583	missense	401137					extracellular region		g.chr4:71024410G>T																												ENST00000344526.5:c.441G>T	4.37:g.71024410G>T	ENSP00000343172:p.Glu147Asp					C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D|C4orf40_ENST00000502441.2_3'UTR	p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	630	+			147			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.441G>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803175	0.16397	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32272	1.46;1.46	4.64	-9.27	0.00659	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.22109	T	0.4	0.2678	5.6229	0.17467	0.5778:0.0866:0.2482:0.0874	.	147	Q6MZM9	CD040_HUMAN	D	147	ENSP00000426249:E147D;ENSP00000343172:E147D	ENSP00000343172:E147D	E	+	3	2	C4orf40	71058999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	-2.808000	0.00349	-2.602000	0.00161	GAG		0.617	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			87	345	1	0	6.11987e-43	1	7.46226e-43	87	345					T	71024410	G	T	71024410	3	4	79	1	0	0	0	0	1	0	0	0	2276	962	34	3	451	3	C4orf40	4	71024410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	71024410	120129866	5337	15654											
ODAM	54959	broad.mit.edu	37	chr4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccaaggtcacctcaacAaacaagacagcaacagtatg	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	167	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(499-501)cAa>cGa		odontogenic, ameloblast asssociated							110	95	100					4																	71066290		2203	4300	6503	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71066290A>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.500A>G	4.37:g.71066290A>G	ENSP00000379401:p.Gln167Arg						p.Q167R	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			6	548	+			167			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.500A>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308310	0.40895	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50277	0.75;0.75	5.22	1.05	0.20165	.	0.525126	0.16190	N	0.225453	T	0.33323	0.0859	L	0.50333	1.59	0.09310	N	1	B	0.25390	0.125	B	0.20955	0.032	T	0.19031	-1.0318	10	0.38643	T	0.18	0.1088	2.0449	0.03558	0.5865:0.1654:0.089:0.1591	.	167	A1E959	ODAM_HUMAN	R	167;153;120	ENSP00000379401:Q167R;ENSP00000426106:Q120R	ENSP00000379401:Q167R	Q	+	2	0	ODAM	71100879	0.545000	0.26449	0.034000	0.17996	0.002000	0.02628	1.020000	0.30027	0.406000	0.25560	-0.290000	0.09829	CAA		0.373	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		31	109	0	0	0	1	0	31	109					G	71066290	A	G	71066290	3	3	79	1	0	0	0	0	1	0	0	0	10866	130	5	4	522	4	ODAM	4	71066290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41880	71066290	120087986	5338	15655											
C4orf35	85438	broad.mit.edu	37	chr4	71201322	71201322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggatgaagctgatatgaGcaattataattcctccatca	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71201322G>T	ENST00000273936.5	+	1	640	c.566G>T	c.(565-567)aGc>aTc	p.S189I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	189					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGATATGAGCAATTATAAT	0.473																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(565-567)aGc>aTc		calcium-binding protein, spermatid-specific 1							58	63	62					4																	71201322		2200	4298	6498	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201322G>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.566G>T	4.37:g.71201322G>T	ENSP00000273936:p.Ser189Ile						p.S189I	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	625	+			189					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.566G>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	7.855	0.724735	0.15439	.	.	ENSG00000145309	ENST00000273936	T	0.22336	1.96	3.92	-4.25	0.03766	.	.	.	.	.	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31308	-0.9948	9	0.41790	T	0.15	.	0.6983	0.00903	0.235:0.1368:0.3074:0.3208	.	189	Q96KC9	CABS1_HUMAN	I	189	ENSP00000273936:S189I	ENSP00000273936:S189I	S	+	2	0	CABS1	71235911	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.149000	0.01291	-0.839000	0.04212	-1.044000	0.02363	AGC		0.473	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		48	213	1	0	5.78141e-17	1	6.36782e-17	48	213					T	71201322	G	T	71201322	3	4	79	1	0	0	0	0	1	0	0	0	2272	971	34	3	568	3	C4orf35	4	71201322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135032	71201322	119952954	5339	15656											
AMTN	401138	broad.mit.edu	37	chr4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgaaacatgaggagtaCgattctactgttttgtcttc	8	7	3	2	rs374431307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	4					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATGAGGAGTACGATTCTACTG	0.338																																						ENST00000339336.4																			0				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19						c.(10-12)aCg>aTg		amelotin		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	232	215	221		11	-6.8	0	4		221	0,8600		0,0,4300	no	missense	AMTN	NM_212557.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	4/210	71384505	1,13005	2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71384505C>T	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.11C>T	4.37:g.71384505C>T	ENSP00000341013:p.Thr4Met					AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		2	141	+			4					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.11C>T	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101948	0.01828	2.27E-4	0.0	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30714	1.52;1.52	5.76	-6.78	0.01721	.	2.215910	0.01532	N	0.018838	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.29301	T	0.29	15.6161	16.5503	0.84471	0.0:0.3278:0.0:0.6722	.	4;4	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	4	ENSP00000341013:T4M;ENSP00000422452:T4M	ENSP00000341013:T4M	T	+	2	0	AMTN	71419094	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.921000	0.01569	-2.864000	0.00326	-1.814000	0.00607	ACG		0.338	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		83	433	0	0	0	1	0	83	433					T	71384505	C	T	71384505	3	4	79	1	0	0	0	0	1	0	0	0	590	536	19	1	13	1	AMTN	4	71384505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183183	71384505	119769771	5340	15657											
AMTN	401138	broad.mit.edu	37	chr4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcattccagccacaAatcttcacgagcctcatcat	3	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	121					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGCCACAAATCTTCACGA	0.478																																						ENST00000339336.4																			0				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19						c.(361-363)caA>caC		amelotin							41	42	42					4																	71396761		2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71396761A>C	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.363A>C	4.37:g.71396761A>C	ENSP00000341013:p.Gln121His					AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	p.Q121H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		8	493	+			121					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.363A>C	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062974	0.19987	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	6.01	-3.7	0.04437	.	0.365001	0.24285	N	0.039878	T	0.45736	0.1357	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.27140	0.169;0.169	B;B	0.25884	0.064;0.064	T	0.32107	-0.9919	10	0.51188	T	0.08	-0.0032	6.0287	0.19669	0.32:0.3932:0.2867:0.0	.	120;121	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	121;120	ENSP00000341013:Q121H;ENSP00000422452:Q120H	ENSP00000341013:Q121H	Q	+	3	2	AMTN	71431350	0.993000	0.37304	0.090000	0.20809	0.062000	0.15995	0.194000	0.17135	-0.335000	0.08451	-0.321000	0.08615	CAA		0.478	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		42	153	0	0	0	1	0	42	153					C	71396761	A	C	71396761	3	2	79	1	0	0	0	0	1	0	0	0	590	11	1	4	389	4	AMTN	4	71396761	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12256	71396761	119757515	5341	15658											
AMBN	258	broad.mit.edu	37	chr4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaacccagctttccttAcagagctagaacctgctccc	6	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	343					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1027-1029)Aca>Gca		ameloblastin (enamel matrix protein)							59	58	58					4																	71472130		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472130A>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1027A>G	4.37:g.71472130A>G	ENSP00000313809:p.Thr343Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	p.T343A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1130	+			343					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.1027A>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239752	0.10023	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29917	1.55;1.55	5.7	-8.38	0.00973	.	0.853066	0.10180	N	0.705992	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.24541	0.054	T	0.26121	-1.0112	10	0.56958	D	0.05	1.0762	0.207	0.00152	0.3172:0.1473:0.2035:0.332	.	343	Q9NP70	AMBN_HUMAN	A	343;342;328	ENSP00000313809:T343A;ENSP00000391234:T328A	ENSP00000313809:T343A	T	+	1	0	AMBN	71506719	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.646000	0.01998	-2.229000	0.00720	-1.560000	0.00886	ACA		0.582	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		44	183	0	0	0	1	0	44	183					G	71472130	A	G	71472130	3	3	79	1	0	0	0	0	1	0	0	0	563	391	14	4	1077	4	AMBN	4	71472130	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75369	71472130	119682146	5342	15659											
ENAM	10117	broad.mit.edu	37	chr4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacaaagaatccaaccaGcccctggagaaactctcaac	5	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	456					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1366-1368)aGc>aAc		enamelin							34	36	35					4																	71508510		2186	4297	6483	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508510G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1367G>A	4.37:g.71508510G>A	ENSP00000379383:p.Ser456Asn					ENAM_ENST00000472903.1_Intron	p.S456N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1648	+			456					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1367G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581836	0.13749	.	.	ENSG00000132464	ENST00000396073	T	0.35973	1.28	5.93	2.02	0.26589	.	0.623927	0.16087	N	0.230252	T	0.19208	0.0461	L	0.33485	1.01	0.09310	N	1	P	0.39940	0.696	B	0.35550	0.205	T	0.08351	-1.0726	10	0.25106	T	0.35	-1.0E-4	1.8656	0.03198	0.1769:0.1605:0.497:0.1656	.	456	Q9NRM1	ENAM_HUMAN	N	456	ENSP00000379383:S456N	ENSP00000379383:S456N	S	+	2	0	ENAM	71727374	0.000000	0.05858	0.235000	0.24058	0.080000	0.17528	0.331000	0.19733	0.388000	0.25054	0.655000	0.94253	AGC		0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		61	225	0	0	0	1	0	61	225					A	71508510	G	A	71508510	3	1	79	1	0	0	0	0	1	0	0	0	5130	971	34	2	1397	2	ENAM	4	71508510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36380	71508510	119645766	5343	15660											
ENAM	10117	broad.mit.edu	37	chr4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaatcaactgggccaAaaggaaattatgccctttcc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	966					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2896-2898)caA>caC		enamelin							87	87	87					4																	71510041		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510041A>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2898A>C	4.37:g.71510041A>C	ENSP00000379383:p.Gln966His					ENAM_ENST00000472903.1_Intron	p.Q966H	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3179	+			966					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2898A>C	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692445	0.15039	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	-2.09	0.07232	.	0.520767	0.17726	N	0.164066	T	0.38241	0.1033	M	0.84683	2.71	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.36089	-0.9762	10	0.87932	D	0	-1.4631	1.4747	0.02423	0.3903:0.1475:0.319:0.1432	.	966	Q9NRM1	ENAM_HUMAN	H	966	ENSP00000379383:Q966H	ENSP00000379383:Q966H	Q	+	3	2	ENAM	71728905	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	-0.121000	0.10643	-0.095000	0.12351	-0.256000	0.11100	CAA		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		95	311	0	0	0	1	0	95	311					C	71510041	A	C	71510041	3	2	79	1	0	0	0	0	1	0	0	0	5130	11	1	4	2928	4	ENAM	4	71510041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1531	71510041	119644235	5344	15661											
ENAM	10117	broad.mit.edu	37	chr4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaccatctaacattctgCatttgccatgctttggctcc	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1054					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(3160-3162)Cat>Aat		enamelin							113	101	105					4																	71510303		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510303C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3160C>A	4.37:g.71510303C>A	ENSP00000379383:p.His1054Asn					ENAM_ENST00000472903.1_Intron	p.H1054N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3441	+			1054					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3160C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095920	0.20552	.	.	ENSG00000132464	ENST00000396073	T	0.28666	1.6	5.95	0.457	0.16661	.	1.115720	0.06709	N	0.772753	T	0.22322	0.0538	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.33196	0.159	T	0.35151	-0.9800	10	0.59425	D	0.04	0.5967	8.4848	0.33065	0.6254:0.2979:0.0:0.0767	.	1054	Q9NRM1	ENAM_HUMAN	N	1054	ENSP00000379383:H1054N	ENSP00000379383:H1054N	H	+	1	0	ENAM	71729167	0.031000	0.19500	0.080000	0.20451	0.656000	0.38851	0.220000	0.17660	0.265000	0.21872	0.655000	0.94253	CAT		0.458	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		71	325	1	0	4.37588e-27	1	5.05892e-27	71	325					A	71510303	C	A	71510303	3	1	79	1	0	0	0	0	1	0	0	0	5130	710	25	3	3190	3	ENAM	4	71510303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	71510303	119643973	5345	15662											
IGJ	3512	broad.mit.edu	37	chr4	71522187	71522187	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagcactgtcttcatcacaGatattgctctgggtagcagt	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	113					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418																																						ENST00000254801.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(337-339)atC>atA		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							180	145	157					4																	71522187		2203	4300	6503	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522187G>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"Immunoglobulins / IGJ linker"	5713	protein-coding gene	gene with protein product	"immunoglobulin J chain", "IgJ chain"	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.339C>A	4.37:g.71522187G>T						IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	p.I113I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	Lung(101;0.235)		4	508	-			113						Silent	SNP	ENST00000254801.4	37	c.339C>A	CCDS3545.1																																																																																				0.418	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		69	254	1	0	8.83742e-36	1	1.05621e-35	69	254					T	71522187	G	T	71522187	2	4	79	1	0	0	0	0	0	0	0	1	7622	932	33	3		3	IGJ	4	71522187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11884	71522187	119632089	5346	15663											
UTP3	57050	broad.mit.edu	37	chr4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttaaggatgagctggagCcattgttagagttggtggaa	16	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(736-738)Cca>Tca		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							84	84	84					4																	71555130		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555130C>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.736C>T	4.37:g.71555130C>T	ENSP00000254803:p.Pro246Ser						p.P246S	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	935	+			246					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.736C>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367264	0.82463	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.64416	0.2596	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65183	-0.6230	10	0.45353	T	0.12	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	S	246	ENSP00000254803:P246S	ENSP00000254803:P246S	P	+	1	0	UTP3	71773994	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.389000	0.73199	2.542000	0.85734	0.603000	0.83216	CCA		0.438	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		78	359	0	0	0	1	0	78	359					T	71555130	C	T	71555130	3	4	79	1	0	0	0	0	1	0	0	0	17155	739	26	2	738	2	UTP3	4	71555130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32943	71555130	119599146	5347	15664											
RUFY3	22902	broad.mit.edu	37	chr4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttacaagaagaaatggaaCgagttaaagaggaaagttcc	10	6	0	3	rs368406328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	315					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(943-945)Cga>Tga		RUN and FYVE domain containing 3							68	67	67					4																	71648856		2203	4300	6503	SO:0001587	stop_gained	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71648856C>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.943C>T	4.37:g.71648856C>T	ENSP00000226328:p.Arg315*					RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*	p.R315*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		9	1506	+		all_hematologic(202;0.248)	315					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	c.943C>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280902	0.97440	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.6392	14.6544	0.68823	0.1453:0.8547:0.0:0.0	.	.	.	.	X	375;315;315;299;262	.	ENSP00000226328:R315X	R	+	1	2	RUFY3	71867720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.594000	0.36697	2.683000	0.91414	0.655000	0.94253	CGA		0.308	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		27	149	0	0	0	1	0	27	149					T	71648856	C	T	71648856	4	4	79	1	0	0	0	0	0	1	0	0	13790	528	19	1	1339	1	RUFY3	4	71648856	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93726	71648856	119505420	5348	15665											
RUFY3	22902	broad.mit.edu	37	chr4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaagcatttaaaagaagaGacacaattacgattggtaaa	8	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	352					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAAGAAGAGACACAATTAC	0.338																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1054-1056)gaG>gaT		RUN and FYVE domain containing 3							66	60	62					4																	71650581		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71650581G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1056G>T	4.37:g.71650581G>T	ENSP00000226328:p.Glu352Asp					RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D	p.E352D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		10	1619	+		all_hematologic(202;0.248)	352					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1056G>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179929	0.57800	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.75	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.61218	1.895	0.58432	D	0.999993	B;D;D;D	0.89917	0.362;1.0;0.984;0.957	B;D;D;P	0.76071	0.217;0.987;0.935;0.723	T	0.01280	-1.1397	10	0.62326	D	0.03	-28.1233	10.1524	0.42803	0.3772:0.0:0.6228:0.0	.	336;352;352;412	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	D	412;352;352;336;299	ENSP00000399771:E412D;ENSP00000370394:E352D;ENSP00000226328:E352D;ENSP00000443652:E336D;ENSP00000425400:E299D	ENSP00000226328:E352D	E	+	3	2	RUFY3	71869445	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.523000	0.35932	0.460000	0.27045	0.650000	0.86243	GAG		0.338	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		14	70	1	0	1.3612e-06	1	1.40558e-06	14	70					T	71650581	G	T	71650581	3	4	79	1	0	0	0	0	1	0	0	0	13790	933	33	3	1456	3	RUFY3	4	71650581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	71650581	119503695	5349	15666											
GRSF1	2926	broad.mit.edu	37	chr4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataagaaccgacatgtgttCgaacttcattccttctgctt	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000254799.6	-	6	1106	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(988-990)cGa>cAa		G-rich RNA sequence binding factor 1							151	139	142					4																	71693715		1843	4090	5933	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693715C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.989G>A	4.37:g.71693715C>T	ENSP00000254799:p.Arg330Gln					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q	p.R330Q	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1106	-		all_hematologic(202;0.21)	330					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.989G>A	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.323593|5.323593	0.95708|0.95708	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.06371	.|3.31;3.31;3.31;3.31;3.31	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nucleotide-binding, alpha-beta plait (1);	.|0.268407	.|0.37857	.|N	.|0.001914	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.50632|0.50632	D|D	0.999887|0.999887	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.92;0.992	T|T	0.29458|0.29458	-1.0011|-1.0011	6|10	0.13108|0.17369	T|T	0.6|0.5	-0.9839|-0.9839	19.424|19.424	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;330	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	K|Q	267|330;168;262;303;168;212	.|ENSP00000254799:R330Q;ENSP00000389219:R168Q;ENSP00000427354:R303Q;ENSP00000425430:R168Q;ENSP00000443380:R212Q	ENSP00000427644:E95K|ENSP00000254799:R330Q	E|R	-|-	1|2	0|0	GRSF1|GRSF1	71912579|71912579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.468000|2.468000	0.45102|0.45102	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.353	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		67	267	0	0	0	1	0	67	267					T	71693715	C	T	71693715	3	4	79	1	0	0	0	0	1	0	0	0	6839	884	31	1	469	1	GRSF1	4	71693715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	71693715	119460561	5350	15667											
NPFFR2	10886	broad.mit.edu	37	chr4	72897828	72897828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggcagactgcgaaaagTagctggagccggagcaggga	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	70					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCGAAAAGTAGCTGGAGCC	0.667																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(208-210)agT>agC		neuropeptide FF receptor 2							37	41	40					4																	72897828		2203	4300	6503	SO:0001819	synonymous_variant	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897828T>C	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.210T>C	4.37:g.72897828T>C						NPFFR2_ENST00000344413.5_Silent_p.S70S	p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	308	+			70					Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	37	c.210T>C	CCDS3551.1																																																																																				0.667	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		35	159	0	0	0	1	0	35	159					C	72897828	T	C	72897828	2	2	79	1	0	0	0	0	0	0	0	1	10620	1635	57	4		4	NPFFR2	4	72897828	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1204113	72897828	118256448	5351	15668											
NPFFR2	10886	broad.mit.edu	37	chr4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttactagttggcatattCtgcatgcctataacactgct	7	9	1	0	rs534362383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	199					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTGGCATATTCTGCATGCCTA	0.368																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(595-597)ttC>ttA		neuropeptide FF receptor 2							133	127	129					4																	72994599		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994599C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.597C>A	4.37:g.72994599C>A	ENSP00000307822:p.Phe199Leu					NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L	p.F199L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	695	+			199					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.597C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244796	0.59103	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.69175	-0.38;-0.38;-0.38	5.75	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.68366	0.2993	L	0.55743	1.74	0.58432	D	0.999999	P;P	0.50710	0.924;0.938	P;P	0.54372	0.635;0.75	T	0.65063	-0.6259	10	0.29301	T	0.29	.	9.2198	0.37370	0.0:0.7274:0.0:0.2726	.	100;199	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	199;100;97	ENSP00000307822:F199L;ENSP00000379321:F100L;ENSP00000351599:F97L	ENSP00000307822:F199L	F	+	3	2	NPFFR2	73213463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.605000	0.36815	1.362000	0.46000	0.650000	0.86243	TTC		0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		118	520	1	0	2.48225e-49	1	3.07029e-49	118	520					A	72994599	C	A	72994599	3	1	79	1	0	0	0	0	1	0	0	0	10620	912	32	3	609	3	NPFFR2	4	72994599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96771	72994599	118159677	5352	15669											
ADAMTS3	9508	broad.mit.edu	37	chr4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatcacttttcctacggcatCcatatttagtgtactggaaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	871	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTACGGCATCCATATTTAGT	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2611-2613)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							127	114	118					4																	73161482		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73161482C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2612G>T	4.37:g.73161482C>A	ENSP00000286657:p.Gly871Val						p.G871V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2648	-			871			TSP type-1 2.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2612G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053048	0.75960	.	.	ENSG00000156140	ENST00000286657	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.67258	0.2874	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60469	-0.7257	10	0.14656	T	0.56	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	871	O15072	ATS3_HUMAN	V	871	ENSP00000286657:G871V	ENSP00000286657:G871V	G	-	2	0	ADAMTS3	73380346	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.776000	0.85560	2.379000	0.81126	0.650000	0.86243	GGA		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			81	330	1	0	1.24833e-42	1	1.5209e-42	81	330					A	73161482	C	A	73161482	3	1	79	1	0	0	0	0	1	0	0	0	267	855	30	3	1021	3	ADAMTS3	4	73161482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166883	73161482	117992794	5353	15670											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggttcggcagtgggaaTtatctcctccacagacacca	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	709	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTGGGAATTATCTCCTCC	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2125-2127)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							148	135	140					4																	73175167		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175167T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2126A>G	4.37:g.73175167T>C	ENSP00000286657:p.Asn709Ser						p.N709S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2162	-			709			Cys-rich.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2126A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271527	0.59649	.	.	ENSG00000156140	ENST00000286657	T	0.66460	-0.21	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.71920	2.185	0.49483	D	0.999796	P	0.48911	0.917	B	0.41412	0.356	T	0.67333	-0.5697	10	0.52906	T	0.07	.	11.4011	0.49871	0.0:0.0709:0.0:0.9291	.	709	O15072	ATS3_HUMAN	S	709	ENSP00000286657:N709S	ENSP00000286657:N709S	N	-	2	0	ADAMTS3	73394031	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.938000	0.70170	1.040000	0.40099	0.455000	0.32223	AAT		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			72	333	0	0	0	1	0	72	333					C	73175167	T	C	73175167	3	2	79	1	0	0	0	0	1	0	0	0	267	1493	52	4	1523	4	ADAMTS3	4	73175167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	73175167	117979109	5354	15671											
ADAMTS3	9508	broad.mit.edu	37	chr4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaaagtagggattatcaGgatggctacaccacagctgt	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGATTATCAGGATGGCTACA	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1528-1530)cCt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							100	95	97					4																	73181645		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73181645G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1529C>A	4.37:g.73181645G>T	ENSP00000286657:p.Pro510His						p.P510H	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1565	-			510			Disintegrin.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1529C>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426721	0.83667	.	.	ENSG00000156140	ENST00000286657	T	0.65732	-0.17	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80144	-0.1505	10	0.66056	D	0.02	.	14.4007	0.67044	0.071:0.0:0.929:0.0	.	510	O15072	ATS3_HUMAN	H	510	ENSP00000286657:P510H	ENSP00000286657:P510H	P	-	2	0	ADAMTS3	73400509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	1.377000	0.46286	0.655000	0.94253	CCT		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			41	211	1	0	1.61004e-24	1	1.84098e-24	41	211					T	73181645	G	T	73181645	3	4	79	1	0	0	0	0	1	0	0	0	267	1000	35	3	2136	3	ADAMTS3	4	73181645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6478	73181645	117972631	5355	15672											
ADAMTS3	9508	broad.mit.edu	37	chr4	73185142	73185142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccatgacacttcccataGcagtctcatcaccacacctg	6	16	2	1	rs188897708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73185142G>T	ENST00000286657.4	-	9	1295	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	420	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCCATAGCAGTCTCATC	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1258-1260)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							155	120	132					4																	73185142		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73185142G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1259C>A	4.37:g.73185142G>T	ENSP00000286657:p.Ala420Asp						p.A420D	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1295	-			420			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1259C>A	CCDS3553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.27	3.347610	0.61183	.	.	ENSG00000156140	ENST00000286657	D	0.86230	-2.09	5.61	5.61	0.85477	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	N	0.25094	0.71	0.54753	D	0.999983	D	0.60160	0.987	D	0.66497	0.944	D	0.83361	0.0002	10	0.12766	T	0.61	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	420	O15072	ATS3_HUMAN	D	420	ENSP00000286657:A420D	ENSP00000286657:A420D	A	-	2	0	ADAMTS3	73404006	0.928000	0.31464	0.209000	0.23619	0.893000	0.52053	3.955000	0.56715	2.802000	0.96397	0.655000	0.94253	GCT		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	292	1	0	0.00116845	1	0.00118049	6	292					T	73185142	G	T	73185142	3	4	79	1	0	0	0	0	1	0	0	0	267	971	34	3	2414	3	ADAMTS3	4	73185142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3497	73185142	117969134	5356	15673											
ADAMTS3	9508	broad.mit.edu	37	chr4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggactcatcatggtaaAtttcattcacctagcaacaa	7	10	4	0	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	291	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCATGGTAAATTTCATTCAC	0.358																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(871-873)aTt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							142	143	143					4																	73188804		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188804A>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.872T>G	4.37:g.73188804A>C	ENSP00000286657:p.Ile291Ser					RP11-373J21.1_ENST00000503918.1_RNA	p.I291S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	908	-			291			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.872T>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629833	0.87660	.	.	ENSG00000156140	ENST00000286657	T	0.66995	-0.24	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87671	0.2541	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	291	O15072	ATS3_HUMAN	S	291	ENSP00000286657:I291S	ENSP00000286657:I291S	I	-	2	0	ADAMTS3	73407668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.699000	0.91316	2.324000	0.78689	0.533000	0.62120	ATT		0.358	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			133	559	0	0	0	1	0	133	559					C	73188804	A	C	73188804	3	2	79	1	0	0	0	0	1	0	0	0	267	101	4	4	2813	4	ADAMTS3	4	73188804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3662	73188804	117965472	5357	15674											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205355	73205355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgtttcattcagctgCtggtggatgttgccataaac	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	239					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTCAGCTGCTGGTGGATGT	0.478																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(715-717)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							222	216	218					4																	73205355		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205355C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.717G>A	4.37:g.73205355C>T							p.Q239Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	753	-			239					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.717G>A	CCDS3553.1																																																																																				0.478	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			183	809	0	0	0	1	0	183	809					T	73205355	C	T	73205355	2	4	79	1	0	0	0	0	0	0	0	1	267	796	28	2		2	ADAMTS3	4	73205355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16551	73205355	117948921	5358	15675											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280626	73280626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcctttttcttcctccatCtgtttacctctttccaaggg	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	189					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCTCCATCTGTTTACCTC	0.378																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(565-567)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							168	163	164					4																	73280626		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280626C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.567G>A	4.37:g.73280626C>T							p.Q189Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	603	-			189					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.567G>A	CCDS3553.1																																																																																				0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			20	270	0	0	0	1	0	20	270					T	73280626	C	T	73280626	2	4	79	1	0	0	0	0	0	0	0	1	267	912	32	2		2	ADAMTS3	4	73280626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75271	73280626	117873650	5359	15676											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414462	73414462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgatgttaaagaacaaCtgctcagggttggaagacac	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	79					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGAACAACTGCTCAGGGT	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(235-237)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							102	95	98					4																	73414462		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414462C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.237G>A	4.37:g.73414462C>T						ADAMTS3_ENST00000505193.1_5'UTR	p.Q79Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	273	-			79					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.237G>A	CCDS3553.1																																																																																				0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			90	336	0	0	0	1	0	90	336					T	73414462	C	T	73414462	2	4	79	1	0	0	0	0	0	0	0	1	267	564	20	2		2	ADAMTS3	4	73414462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133836	73414462	117739814	5360	15677											
ANKRD17	26057	broad.mit.edu	37	chr4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcagtcccaatagggactgGaactttcctgtcctgagaca	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2424					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAGGGACTGGAACTTTCCTG	0.498																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7270-7272)Cca>Aca		ankyrin repeat domain 17							125	103	110					4																	73944497		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73944497G>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7270C>A	4.37:g.73944497G>T	ENSP00000351416:p.Pro2424Thr					ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	p.P2424T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		31	7386	-	Breast(15;0.000295)		2424					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7270C>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070760	0.76301	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.89552	-2.28;-2.29;-2.53	5.9	5.9	0.94986	.	0.090952	0.47455	D	0.000234	D	0.90858	0.7128	L	0.57536	1.79	0.51233	D	0.999918	P;P;P;P	0.44429	0.835;0.835;0.745;0.745	B;P;B;B	0.47645	0.429;0.553;0.247;0.247	D	0.91150	0.4952	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	2423;2173;2424;2311	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2424;1831;2173;2311	ENSP00000351416:P2424T;ENSP00000332265:P2173T;ENSP00000427151:P2311T	ENSP00000332265:P2173T	P	-	1	0	ANKRD17	74163361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.798000	0.96311	0.650000	0.86243	CCA		0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		33	307	1	0	3.11337e-16	1	3.41587e-16	33	307					T	73944497	G	T	73944497	3	4	79	1	0	0	0	0	1	0	0	0	646	1174	41	3	557	3	ANKRD17	4	73944497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530035	73944497	117209779	5361	15678											
ANKRD17	26057	broad.mit.edu	37	chr4	73957906	73957906	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccctattttggaatttgcTgaggagcttttcaaacgatt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1813					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAATTTGCTGAGGAGCTTT	0.378																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5437-5439)tcA>tcC		ankyrin repeat domain 17							152	150	150					4																	73957906		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957906T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5439A>C	4.37:g.73957906T>G						ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	p.S1813S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5555	-	Breast(15;0.000295)		1813					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5439A>C	CCDS34004.1																																																																																				0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		157	674	0	0	0	1	0	157	674					G	73957906	T	G	73957906	2	3	79	1	0	0	0	0	0	0	0	1	646	1567	55	4		4	ANKRD17	4	73957906	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13409	73957906	117196370	5362	15679											
ANKRD17	26057	broad.mit.edu	37	chr4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttaccatgagaacctgCcaaagttgtccaggttgcag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGAACCTGCCAAAGTTGTC	0.368																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4654-4656)Gca>Aca		ankyrin repeat domain 17							74	73	73					4																	73964157		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73964157C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4654G>A	4.37:g.73964157C>T	ENSP00000351416:p.Ala1552Thr					ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	p.A1552T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	4770	-	Breast(15;0.000295)		1552					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4654G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793271	0.31685	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63913	-0.07;-0.02;-0.04	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.40743	0.1129	N	0.05078	-0.115	0.40466	D	0.98029	B;B;B;B	0.20550	0.046;0.046;0.027;0.027	B;B;B;B	0.21360	0.034;0.034;0.015;0.006	T	0.44003	-0.9356	10	0.02654	T	1	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	1551;1301;1552;1439	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1552;1301;1439	ENSP00000351416:A1552T;ENSP00000332265:A1301T;ENSP00000427151:A1439T	ENSP00000332265:A1301T	A	-	1	0	ANKRD17	74183021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.465000	0.53064	2.669000	0.90835	0.591000	0.81541	GCA		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		67	321	0	0	0	1	0	67	321					T	73964157	C	T	73964157	3	4	79	1	0	0	0	0	1	0	0	0	646	739	26	2	3193	2	ANKRD17	4	73964157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6251	73964157	117190119	5363	15680											
ANKRD17	26057	broad.mit.edu	37	chr4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcggcccacctccgcatAtccaccagaggcagcttcca	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1297					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTCCGCATATCCACCAGAG	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3889-3891)Tat>Cat		ankyrin repeat domain 17							82	77	79					4																	73986015		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73986015A>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3889T>C	4.37:g.73986015A>G	ENSP00000351416:p.Tyr1297His					ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	p.Y1297H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	4005	-	Breast(15;0.000295)		1297					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.3889T>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480170	0.63849	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.61742	0.08;0.08;0.08	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	T	0.46014	0.1371	N	0.00859	-1.14	0.53688	D	0.999977	B;D;D;D;D	0.89917	0.384;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.808;0.996;0.996;0.998;0.999	T	0.59182	-0.7502	10	0.13108	T	0.6	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	818;1296;1046;1297;1184	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1297;1046;1184	ENSP00000351416:Y1297H;ENSP00000332265:Y1046H;ENSP00000427151:Y1184H	ENSP00000332265:Y1046H	Y	-	1	0	ANKRD17	74204879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	TAT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		63	242	0	0	0	1	0	63	242					G	73986015	A	G	73986015	3	3	79	1	0	0	0	0	1	0	0	0	646	449	16	4	3978	4	ANKRD17	4	73986015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21858	73986015	117168261	5364	15681											
ANKRD17	26057	broad.mit.edu	37	chr4	73990976	73990976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgtttgtaccagttcCtcgtggccaccagcacaggc	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1096					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACCAGTTCCTCGTGGCCAC	0.388																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3286-3288)gaG>gaA		ankyrin repeat domain 17							151	147	148					4																	73990976		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73990976C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3288G>A	4.37:g.73990976C>T						ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	p.E1096E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	3404	-	Breast(15;0.000295)		1096					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3288G>A	CCDS34004.1																																																																																				0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		107	462	0	0	0	1	0	107	462					T	73990976	C	T	73990976	2	4	79	1	0	0	0	0	0	0	0	1	646	680	24	2		2	ANKRD17	4	73990976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4961	73990976	117163300	5365	15682											
ANKRD17	26057	broad.mit.edu	37	chr4	74124155	74124155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggggtcggcaagtccgGttacgcttggccttgtggtg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ANKRD17_ENST00000330838.6_Silent_p.N77N|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	77					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCAAGTCCGGTTACGCTTGG	0.697																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(229-231)aaC>aaT		ankyrin repeat domain 17							28	28	28					4																	74124155		2201	4299	6500	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124155G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.231C>T	4.37:g.74124155G>A						ANKRD17_ENST00000330838.6_Silent_p.N77N	p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	347	-	Breast(15;0.000295)		77					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.231C>T	CCDS34004.1																																																																																				0.697	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		25	149	0	0	0	1	0	25	149					A	74124155	G	A	74124155	2	1	79	1	0	0	0	0	0	0	0	1	646	1252	44	2		2	ANKRD17	4	74124155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133179	74124155	117030121	5366	15683											
ANKRD17	26057	broad.mit.edu	37	chr4	74124188	74124188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtgctgctgctgcggCggcttcttcttcaggagcag	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ANKRD17_ENST00000330838.6_Silent_p.P66P|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	66					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTGCGGCGGCTTCTTCT	0.687																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(196-198)ccG>ccA		ankyrin repeat domain 17							18	18	18					4																	74124188		2200	4278	6478	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124188C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.198G>A	4.37:g.74124188C>T						ANKRD17_ENST00000330838.6_Silent_p.P66P	p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	314	-	Breast(15;0.000295)		66					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.198G>A	CCDS34004.1																																																																																				0.687	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		19	79	0	0	0	1	0	19	79					T	74124188	C	T	74124188	2	4	79	1	0	0	0	0	0	0	0	1	646	755	27	1		1	ANKRD17	4	74124188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	74124188	117030088	5367	15684											
AFP	174	broad.mit.edu	37	chr4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgagcactgttgcagaGgagatgtgctggattgtctg	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	272	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(814-816)Gga>Tga		alpha-fetoprotein							126	120	122					4																	74310810		2203	4300	6503	SO:0001587	stop_gained	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74310810G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.814G>T	4.37:g.74310810G>T	ENSP00000379138:p.Gly272*					AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	914	+	Breast(15;0.00102)		272			Albumin 2.		B2RBU3	Nonsense_Mutation	SNP	ENST00000395792.2	37	c.814G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474626	0.63737	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	.	.	.	5.44	5.44	0.79542	.	0.063410	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	ENSP00000226359:G272X	G	+	1	0	AFP	74529674	1.000000	0.71417	0.323000	0.25347	0.280000	0.26924	5.146000	0.64845	2.832000	0.97577	0.655000	0.94253	GGA		0.393	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			81	385	1	0	2.63401e-43	1	3.21458e-43	81	385					T	74310810	G	T	74310810	4	4	79	1	0	0	0	0	0	1	0	0	363	1001	35	3	840	3	AFP	4	74310810	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186622	74310810	116843466	5368	15685											
AFP	174	broad.mit.edu	37	chr4	74313256	74313256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctgcaaactgaccacGctggaacgtggtcaatgtat	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74313256G>A	ENST00000395792.2	+	8	1021	c.921G>A	c.(919-921)acG>acA	p.T307T	AFP_ENST00000226359.2_Silent_p.T307T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	307	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACTGACCACGCTGGAACGTG	0.353									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(919-921)acG>acA		alpha-fetoprotein							45	45	45					4																	74313256		2203	4300	6503	SO:0001819	synonymous_variant	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74313256G>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.921G>A	4.37:g.74313256G>A						AFP_ENST00000226359.2_Silent_p.T307T	p.T307T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1021	+	Breast(15;0.00102)		307			Albumin 2.		B2RBU3	Silent	SNP	ENST00000395792.2	37	c.921G>A	CCDS3556.1																																																																																				0.353	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			5	212	0	0	0	1	0	5	212					A	74313256	G	A	74313256	2	1	79	1	0	0	0	0	0	0	0	1	363	1074	38	1		1	AFP	4	74313256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2446	74313256	116841020	5369	15686											
AFM	173	broad.mit.edu	37	chr4	74357693	74357693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccagtgcataattaaCtcaaacaaagatgatagacc	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	316	Albumin 2. {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)			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)			GCATAATTAACTCAAACAAAG	0.378																																						ENST00000226355.3																			0				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						c.(946-948)aaC>aaT		afamin							87	90	89					4																	74357693		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74357693C>T	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.948C>T	4.37:g.74357693C>T							p.N316N	NM_001133.2	NP_001124.1	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)		8	1041	+	Breast(15;0.00102)		316			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.948C>T	CCDS3557.1																																																																																				0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			103	335	0	0	0	1	0	103	335					T	74357693	C	T	74357693	2	4	79	1	0	0	0	0	0	0	0	1	361	564	20	2		2	AFM	4	74357693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44437	74357693	116796583	5370	15687											
RASSF6	166824	broad.mit.edu	37	chr4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctaatttcttctgcatCtttatccatgaggaaaatgc	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000342081.3	-	9	1043	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RASSF6_ENST00000307439.5_Missense_Mutation_p.D273Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	305	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(817-819)Gat>Tat		Ras association (RalGDS/AF-6) domain family member 6							208	215	212					4																	74442353		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74442353C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.913G>T	4.37:g.74442353C>A	ENSP00000340578:p.Asp305Tyr					RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000342081.3_Missense_Mutation_p.D305Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y	p.D273Y	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		9	1111	-	Breast(15;0.00102)		305			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.817G>T	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643034	0.87859	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.34275	2.19;2.19;1.37;2.19	6.07	6.07	0.98685	Ras-association (2);	0.137026	0.64402	D	0.000005	T	0.65626	0.2709	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.68108	-0.5496	10	0.87932	D	0	-23.6135	18.1378	0.89627	0.0:1.0:0.0:0.0	.	261;239;305	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	Y	273;305;239;261	ENSP00000303877:D273Y;ENSP00000340578:D305Y;ENSP00000379123:D239Y;ENSP00000335582:D261Y	ENSP00000303877:D273Y	D	-	1	0	RASSF6	74661217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	2.884000	0.98904	0.655000	0.94253	GAT		0.433	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		154	718	1	0	5.54423e-67	1	7.01969e-67	154	718					A	74442353	C	A	74442353	3	1	79	1	0	0	0	0	1	0	0	0	13140	913	32	3	208	3	RASSF6	4	74442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84660	74442353	116711923	5371	15688											
RASSF6	166824	broad.mit.edu	37	chr4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatgtgaagagcaaaatcCtggggactattttcaatctg	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000342081.3	-	8	913	c.783G>T	c.(781-783)caG>caT	p.Q261H	RASSF6_ENST00000307439.5_Missense_Mutation_p.Q229H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	261	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(685-687)caG>caT		Ras association (RalGDS/AF-6) domain family member 6							89	92	91					4																	74447568		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74447568C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.783G>T	4.37:g.74447568C>A	ENSP00000340578:p.Gln261His					RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000342081.3_Missense_Mutation_p.Q261H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H	p.Q229H	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		8	981	-	Breast(15;0.00102)		261			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.687G>T	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771961	0.31320	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.30714	2.24;2.24;1.52;2.24	5.38	2.71	0.32032	Ras-association (3);	0.521869	0.22492	N	0.059351	T	0.23492	0.0568	L	0.41961	1.31	0.25594	N	0.986662	B;B;B	0.29835	0.11;0.029;0.258	B;B;B	0.31614	0.037;0.032;0.133	T	0.13737	-1.0498	10	0.37606	T	0.19	-8.2678	6.7214	0.23332	0.0:0.7153:0.0:0.2846	.	217;195;261	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	H	229;261;195;217	ENSP00000303877:Q229H;ENSP00000340578:Q261H;ENSP00000379123:Q195H;ENSP00000335582:Q217H	ENSP00000303877:Q229H	Q	-	3	2	RASSF6	74666432	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.290000	0.18975	0.653000	0.30826	0.591000	0.81541	CAG		0.383	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		59	294	1	0	2.44918e-20	1	2.7432e-20	59	294					A	74447568	C	A	74447568	3	1	79	1	0	0	0	0	1	0	0	0	13140	680	24	3	342	3	RASSF6	4	74447568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5215	74447568	116706708	5372	15689											
PF4	5196	broad.mit.edu	37	chr4	74846978	74846978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcttgcaggtccaaGcaaattttccttccattctt	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	83					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448																																						ENST00000296029.3																			0				kidney(1)|lung(1)	2						c.(247-249)tgC>tgT		platelet factor 4	Drotrecogin alfa(DB00055)						84	89	87					4																	74846978		2203	4300	6503	SO:0001819	synonymous_variant	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846978G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.249C>T	4.37:g.74846978G>A							p.C83C	NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	419	-	Breast(15;0.00136)		83					Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	c.249C>T	CCDS3562.1																																																																																				0.448	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			67	313	0	0	0	1	0	67	313					A	74846978	G	A	74846978	2	1	79	1	0	0	0	0	0	0	0	1	11794	963	34	2		2	PF4	4	74846978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399410	74846978	116307298	5373	15690											
MTHFD2L	441024	broad.mit.edu	37	chr4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccacgatccagtgacaGgaaagacaaaattagttgga	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000395759.2	+	7	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	299					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(895-897)Gga>Aga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							126	125	125					4																	75147231		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75147231G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.895G>A	4.37:g.75147231G>A	ENSP00000379108:p.Gly299Arg					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	p.G299R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		7	922	+			241					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.895G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290676	0.80914	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.57752	0.38;0.38;0.38	5.78	4.94	0.65067	.	0.096735	0.64402	N	0.000001	T	0.68035	0.2957	M	0.88450	2.955	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.69756	-0.5059	10	0.21540	T	0.41	-30.5517	12.6067	0.56527	0.0805:0.0:0.9195:0.0	.	299	Q9H903	MTD2L_HUMAN	R	299;241;241	ENSP00000379108:G299R;ENSP00000352012:G241R;ENSP00000321984:G241R	ENSP00000321984:G241R	G	+	1	0	MTHFD2L	75366095	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	6.102000	0.71486	1.459000	0.47892	0.580000	0.79431	GGA		0.348	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		79	256	0	0	0	1	0	79	256					A	75147231	G	A	75147231	3	1	79	1	0	0	0	0	1	0	0	0	9971	1001	35	2	921	2	MTHFD2L	4	75147231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300253	75147231	116007045	5374	15691											
PARM1	25849	broad.mit.edu	37	chr4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacaggcagcatcgccGccattaccgtgacagtcatt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	261					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(781-783)Gcc>Acc		prostate androgen-regulated mucin-like protein 1							40	45	43					4																	75959104		2035	4186	6221	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75959104G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.781G>A	4.37:g.75959104G>A	ENSP00000370224:p.Ala261Thr					PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	p.A261T	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			3	993	+			261					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.781G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755231	0.89843	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.29908	0.895	0.44500	D	0.997441	D	0.89917	1.0	D	0.97110	1.0	T	0.19321	-1.0309	10	0.87932	D	0	-32.4485	15.4761	0.75481	0.0:0.0:1.0:0.0	.	261	Q6UWI2	PARM1_HUMAN	T	19;261	ENSP00000424276:A19T;ENSP00000370224:A261T	ENSP00000370224:A261T	A	+	1	0	PARM1	76178128	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.204000	0.65180	2.713000	0.92767	0.655000	0.94253	GCC		0.502	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		8	46	0	0	0	1	0	8	46					A	75959104	G	A	75959104	3	1	79	1	0	0	0	0	1	0	0	0	11494	1087	38	1	791	1	PARM1	4	75959104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811873	75959104	115195172	5375	15692											
PARM1	25849	broad.mit.edu	37	chr4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggcattcctcctatggaaGacttttggacgaccatgact	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	289					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(865-867)aGa>aAa		prostate androgen-regulated mucin-like protein 1							106	106	106					4																	75971390		2096	4242	6338	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75971390G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.866G>A	4.37:g.75971390G>A	ENSP00000370224:p.Arg289Lys					PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	p.R289K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			4	1078	+			289					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.866G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581020	0.86748	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	T	0.35364	0.0929	L	0.27053	0.805	0.37882	D	0.930413	D	0.89917	1.0	D	0.83275	0.996	T	0.19614	-1.0300	10	0.87932	D	0	-16.8324	16.9624	0.86275	0.0:0.0:1.0:0.0	.	289	Q6UWI2	PARM1_HUMAN	K	47;289	ENSP00000424276:R47K;ENSP00000370224:R289K	ENSP00000370224:R289K	R	+	2	0	PARM1	76190414	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.093000	0.71422	2.873000	0.98535	0.561000	0.74099	AGA		0.493	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		25	126	0	0	0	1	0	25	126					A	75971390	G	A	75971390	3	1	79	1	0	0	0	0	1	0	0	0	11494	942	33	2	880	2	PARM1	4	75971390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12286	75971390	115182886	5376	15693											
CDKL2	8999	broad.mit.edu	37	chr4	76523300	76523300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaactaaggaatcAtctttttctttttccttctt	2	10	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000429927.2	-	8	1684	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000307465.4_Silent_p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTAAGGAATCATCTTTTTCTT	0.274																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(979-981)gaT>gaC		cyclin-dependent kinase-like 2 (CDC2-related kinase)							38	38	38					4																	76523300		2197	4274	6471	SO:0001819	synonymous_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523300A>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.981T>C	4.37:g.76523300A>G						CDKL2_ENST00000307465.4_Silent_p.D327D	p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1684	-			327					B2R695	Silent	SNP	ENST00000429927.2	37	c.981T>C	CCDS3570.1																																																																																				0.274	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		37	191	0	0	0	1	0	37	191					G	76523300	A	G	76523300	2	3	79	1	0	0	0	0	0	0	0	1	3163	214	8	4		4	CDKL2	4	76523300	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	551910	76523300	114630976	5377	15694											
G3BP2	9908	broad.mit.edu	37	chr4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgagcatccacatgacGaattttagtatgacattcac	7	9	1	3	rs267600258		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393																																						ENST00000359707.4																			2	Substitution - Missense(2)	p.R78C(2)	upper_aerodigestive_tract(1)|large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(232-234)Cgt>Tgt		GTPase activating protein (SH3 domain) binding protein 2							199	199	199					4																	76582860		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76582860G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.232C>T	4.37:g.76582860G>A	ENSP00000352738:p.Arg78Cys					G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C	p.R78C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	1017	-			78			NTF2.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.232C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	G3BP2	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT		0.393	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		134	567	0	0	0	1	0	134	567					A	76582860	G	A	76582860	3	1	79	1	0	0	0	0	1	0	0	0	6169	1058	37	1	1252	1	G3BP2	4	76582860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59560	76582860	114571416	5378	15695											
USO1	8615	broad.mit.edu	37	chr4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagattgatggacttaCtagcggattccagggaagtt	11	6	1	2	rs146437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor	175	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGACTTACTAGCGGATTC	0.308																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(529-531)Cta>Gta		USO1 vesicle transport factor							117	100	105					4																	76692258		1822	4092	5914	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76692258C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.529C>G	4.37:g.76692258C>G	ENSP00000440586:p.Leu177Val					USO1_ENST00000514213.2_Missense_Mutation_p.L160V	p.L177V			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	529	+			175			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.529C>G		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.07	3.295594	0.60086	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.63580	-0.05;-0.05	5.44	-6.59	0.01830	Armadillo-type fold (2);	0.155107	0.42172	D	0.000748	T	0.80369	0.4610	M	0.92169	3.28	0.37146	D	0.901955	D;P	0.76494	0.999;0.755	D;P	0.66716	0.946;0.662	D	0.85201	0.1015	10	0.87932	D	0	.	19.9368	0.97143	0.0:0.7953:0.0:0.2047	.	177;175	F5GYR8;O60763	.;USO1_HUMAN	V	10;177;160;103	ENSP00000440586:L177V;ENSP00000444850:L160V	ENSP00000264904:L103V	L	+	1	2	USO1	76911282	0.006000	0.16342	0.668000	0.29813	0.983000	0.72400	-0.294000	0.08309	-1.434000	0.01975	-0.302000	0.09304	CTA		0.308	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		24	130	0	0	0	1	0	24	130					G	76692258	C	G	76692258	3	3	79	1	0	0	0	0	1	0	0	0	17093	564	20	5	390	5	USO1	4	76692258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109398	76692258	114462018	5379	15696											
USO1	8615	broad.mit.edu	37	chr4	76715005	76715005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacttgctacaagtattgGcaaccctccagtttctttac	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76715005G>A	ENST00000538159.1	+	13	1409	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	USO1_ENST00000514213.2_Missense_Mutation_p.G453D			O60763	USO1_HUMAN	USO1 vesicle transport factor	468	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAAGTATTGGCAACCCTCCA	0.423																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1408-1410)gGc>gAc		USO1 vesicle transport factor							98	95	96					4																	76715005		1862	4108	5970	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76715005G>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1409G>A	4.37:g.76715005G>A	ENSP00000440586:p.Gly470Asp					USO1_ENST00000514213.2_Missense_Mutation_p.G453D	p.G470D			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1409	+			468			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.1409G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480795|4.480795	0.84747|0.84747	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T	.|0.72394	.|-0.65	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76821|0.76821	0.4041|0.4041	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49862	.|0.929;0.815	.|P;P	.|0.51487	.|0.614;0.671	T|T	0.78383|0.78383	-0.2225|-0.2225	5|10	.|0.51188	.|T	.|0.08	.|.	18.5297|18.5297	0.90987|0.90987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470;468	.|F5GYR8;O60763	.|.;USO1_HUMAN	T|D	137|303;470;453;396	.|ENSP00000444850:G453D	.|ENSP00000264904:G396D	A|G	+|+	1|2	0|0	USO1|USO1	76934029|76934029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	9.102000|9.102000	0.94226|0.94226	2.373000|2.373000	0.80994|0.80994	0.585000|0.585000	0.79938|0.79938	GCA|GGC		0.423	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		6	257	0	0	0	1	0	6	257					A	76715005	G	A	76715005	3	1	79	1	0	0	0	0	1	0	0	0	17093	1203	42	2	1294	2	USO1	4	76715005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22747	76715005	114439271	5380	15697											
USO1	8615	broad.mit.edu	37	chr4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaagatgatctcttggtgCtcttggccgatcaagatcag	10	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor	912					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTTGGTGCTCTTGGCCGA	0.333																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2761-2763)Ctc>Atc		USO1 vesicle transport factor							56	54	55					4																	76733463		1833	4085	5918	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76733463C>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2761C>A	4.37:g.76733463C>A	ENSP00000440586:p.Leu921Ile					USO1_ENST00000514213.2_Missense_Mutation_p.L897I	p.L921I			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		24	2761	+			912					B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.2761C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096368|4.096368	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.78|5.78	4.07|4.07	0.47477|0.47477	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	.|0.068870	.|0.64402	.|D	.|0.000013	.|T	.|0.75932	.|0.3917	M|M	0.70595|0.70595	2.14|2.14	0.47407|0.47407	D|D	0.999417|0.999417	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.993;0.998	.|T	.|0.74463	.|-0.3657	.|9	.|0.38643	.|T	.|0.18	.|.	12.5974|12.5974	0.56478|0.56478	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|921;912	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	587|747;921;897;840	.|.	.|ENSP00000264904:L840I	C|L	+|+	3|1	2|0	USO1|USO1	76952487|76952487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.342000|3.342000	0.52159|0.52159	0.813000|0.813000	0.34350|0.34350	-0.157000|-0.157000	0.13467|0.13467	TGC|CTC		0.333	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		7	46	1	0	0.000157383	1	0.000159814	7	46					A	76733463	C	A	76733463	3	1	79	1	0	0	0	0	1	0	0	0	17093	797	28	3	2665	3	USO1	4	76733463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18458	76733463	114420813	5381	15698											
PPEF2	5470	broad.mit.edu	37	chr4	76794284	76794284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggagcacccaccttgCggttgtgacagaattcatag	12	10	1	3	rs143649959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76794284C>T	ENST00000286719.7	-	12	1858	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	501	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCCACCTTGCGGTTGTGACA	0.488																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1501-1503)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131	120	123		1502	4.8	1	4	dbSNP_134	123	0,8600		0,0,4300	no	missense	PPEF2	NM_006239.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	501/754	76794284	1,13005	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794284C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1502G>A	4.37:g.76794284C>T	ENSP00000286719:p.Arg501His						p.R501H	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1858	-			501			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1502G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985700	0.53934	2.27E-4	0.0	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05786	3.39	4.85	4.85	0.62838	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.110801	0.64402	D	0.000006	T	0.21022	0.0506	M	0.68593	2.085	0.46222	D	0.998931	P;D	0.89917	0.954;1.0	P;D	0.64506	0.49;0.926	T	0.00178	-1.1951	10	0.44086	T	0.13	-11.032	15.4928	0.75624	0.0:1.0:0.0:0.0	.	501;501	O14830-2;O14830	.;PPE2_HUMAN	H	501	ENSP00000286719:R501H	ENSP00000286719:R501H	R	-	2	0	PPEF2	77013308	1.000000	0.71417	0.999000	0.59377	0.010000	0.07245	7.061000	0.76699	2.518000	0.84900	0.563000	0.77884	CGC		0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		62	223	0	0	0	1	0	62	223					T	76794284	C	T	76794284	3	4	79	1	0	0	0	0	1	0	0	0	12350	768	27	1	783	1	PPEF2	4	76794284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60821	76794284	114359992	5382	15699											
PPEF2	5470	broad.mit.edu	37	chr4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtgggaaggagaggCgtggccccgtgtaactgtcg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797). {ECO:0000305}.	detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGGAGAGGCGTGGCCCCGT	0.532																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(352-354)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2							245	214	225					4																	76811174		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811174C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.353G>A	4.37:g.76811174C>T	ENSP00000286719:p.Arg118His						p.R118H	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	709	-			118	R -> S (in Ref. 1; AAB82796/AAB82797).				O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.353G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622910	0.14193	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.50001	0.76	4.8	-0.925	0.10458	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.28333	0.0700	N	0.21097	0.63	0.34531	D	0.709223	B;B	0.16802	0.001;0.019	B;B	0.14023	0.002;0.01	T	0.14448	-1.0472	10	0.33141	T	0.24	-1.5701	9.52	0.39129	0.0:0.4153:0.0:0.5847	.	118;118	O14830-2;O14830	.;PPE2_HUMAN	H	118	ENSP00000286719:R118H	ENSP00000286719:R118H	R	-	2	0	PPEF2	77030198	0.000000	0.05858	0.993000	0.49108	0.365000	0.29674	-1.516000	0.02250	-0.137000	0.11455	-0.657000	0.03884	CGC		0.532	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		110	622	0	0	0	1	0	110	622					T	76811174	C	T	76811174	3	4	79	1	0	0	0	0	1	0	0	0	12350	768	27	1	1960	1	PPEF2	4	76811174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16890	76811174	114343102	5383	15700											
SDAD1	55153	broad.mit.edu	37	chr4	76895229	76895229	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccctataggtgctcacCttggtgaccttagagaaaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Splice_Site_p.K175K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	212					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.e7+1		SDA1 domain containing 1							190	157	168					4																	76895229		2203	4300	6503	SO:0001630	splice_region_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76895229C>T	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.636+1G>A	4.37:g.76895229C>T						SDAD1_ENST00000395711.4_Splice_Site_p.K175_splice	p.K212_splice	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	754	-			212					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Splice_Site	SNP	ENST00000356260.5	37	c.636_splice	CCDS3573.2																																																																																				0.428	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	Silent	76	377	0	0	0	1	0	76	377					T	76895229	C	T	76895229	5	4	79	1	0	0	0	0	0	0	1	0	14000	695	24	2	1491	2	SDAD1	4	76895229	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84055	76895229	114259047	5384	15701											
NUP54	53371	broad.mit.edu	37	chr4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttatatcttctagatcgtCtttaatgatgctaatcaaat	4	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000264883.3	-	12	1587	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	483					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1447-1449)Gac>Aac		nucleoporin 54kDa							145	134	138					4																	77036596		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036596C>T	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1447G>A	4.37:g.77036596C>T	ENSP00000264883:p.Asp483Asn					NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N	p.D483N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			12	1587	-			483					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1447G>A	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346035	0.95807	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;P;D	0.54207	0.965;0.82;0.965	P;B;P	0.55713	0.782;0.446;0.629	T	0.69803	-0.5046	9	0.37606	T	0.19	-17.7676	20.5792	0.99380	0.0:1.0:0.0:0.0	.	435;267;483	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	483;267;435;303	.	ENSP00000264883:D483N	D	-	1	0	NUP54	77255620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.873000	0.98535	0.561000	0.74099	GAC		0.338	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			31	206	0	0	0	1	0	31	206					T	77036596	C	T	77036596	3	4	79	1	0	0	0	0	1	0	0	0	10809	913	32	2	80	2	NUP54	4	77036596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141367	77036596	114117680	5385	15702											
SCARB2	950	broad.mit.edu	37	chr4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttctcacctcatccatgGatccctgtcctttgcatgca	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000264896.2	-	11	1737	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	463					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTCATCCATGGATCCCTGTCC	0.458																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1387-1389)tCc>tTc		scavenger receptor class B, member 2							182	160	167					4																	77084388		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77084388G>A	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1388C>T	4.37:g.77084388G>A	ENSP00000264896:p.Ser463Phe					SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	p.S463F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		11	1737	-			463					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1388C>T	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294914	0.40594	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.32;-2.69	5.87	5.03	0.67393	.	0.439500	0.26899	N	0.021921	D	0.84786	0.5549	L	0.29908	0.895	0.29519	N	0.853613	B;B	0.18310	0.027;0.005	B;B	0.12156	0.007;0.004	T	0.79492	-0.1781	10	0.51188	T	0.08	.	12.2472	0.54576	0.0795:0.0:0.9205:0.0	.	320;463	E7EM68;Q14108	.;SCRB2_HUMAN	F	463;320	ENSP00000264896:S463F;ENSP00000399154:S320F	ENSP00000264896:S463F	S	-	2	0	SCARB2	77303412	0.976000	0.34144	0.992000	0.48379	0.714000	0.41099	2.816000	0.48026	1.489000	0.48450	0.655000	0.94253	TCC		0.458	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		16	365	0	0	0	1	0	16	365					A	77084388	G	A	77084388	3	1	79	1	0	0	0	0	1	0	0	0	13932	1174	41	2	56	2	SCARB2	4	77084388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47792	77084388	114069888	5386	15703											
STBD1	100631383	broad.mit.edu	37	chr4	77230413	77230413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtctgtgacaattcaagaGaacatgttccttctggacag	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77230413G>A	ENST00000237642.6	+	2	1081	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		CAATTCAAGAGAACATGTTCC	0.433																																						ENST00000237642.6																			0											c.(337-339)Gaa>Aaa									55	58	57					4																	77230413		2203	4300	6503	SO:0001583	missense	0							g.chr4:77230413G>A		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.337G>A	4.37:g.77230413G>A	ENSP00000237642:p.Glu113Lys					FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	p.E113K	NM_003943.4	NP_003934.1					2	1081	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.337G>A	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010389	0.19277	.	.	ENSG00000118804	ENST00000237642	T	0.22134	1.97	4.27	-1.57	0.08506	.	0.905414	0.09202	N	0.834469	T	0.16599	0.0399	L	0.29908	0.895	0.09310	N	0.999994	B	0.30068	0.267	B	0.22386	0.039	T	0.17776	-1.0358	10	0.66056	D	0.02	-0.4245	16.0888	0.81076	0.0:0.6392:0.3608:0.0	.	113	O95210	STBD1_HUMAN	K	113	ENSP00000237642:E113K	ENSP00000237642:E113K	E	+	1	0	STBD1	77449437	0.000000	0.05858	0.001000	0.08648	0.308000	0.27856	-0.096000	0.11059	-0.402000	0.07633	0.555000	0.69702	GAA		0.433	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			8	333	0	0	0	1	0	8	333					A	77230413	G	A	77230413	3	1	79	1	0	0	0	0	1	0	0	0	15326	943	33	2	343	2	STBD1	4	77230413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146025	77230413	113923863	5387	15704											
CCDC158	339965	broad.mit.edu	37	chr4	77234349	77234349	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtaacattttttcctggtCttttactttctgtatcctct	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77234349C>A	ENST00000388914.3	-	24	3468	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1106								p.D1106N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTCCTGGTCTTTTACTTTC	0.338																																						ENST00000388914.3																			1	Substitution - Missense(1)	p.D1106N(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(3316-3318)Gac>Tac		coiled-coil domain containing 158							193	169	176					4																	77234349		1814	4076	5890	SO:0001583	missense	339965							g.chr4:77234349C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3316G>T	4.37:g.77234349C>A	ENSP00000373566:p.Asp1106Tyr						p.D1106Y	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			24	3468	-			1106					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.3316G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627052	0.66901	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.38401	1.14	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000060	T	0.43122	0.1233	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11767	-1.0574	10	0.14252	T	0.57	.	12.5383	0.56154	0.0:0.9215:0.0:0.0785	.	1106	Q5M9N0	CD158_HUMAN	Y	1106;526	ENSP00000373566:D1106Y	ENSP00000316815:D526Y	D	-	1	0	CCDC158	77453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	2.753000	0.94483	0.557000	0.71058	GAC		0.338	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	128	1	0	0.00198382	1	0.00200138	7	128					A	77234349	C	A	77234349	3	1	79	1	0	0	0	0	1	0	0	0	2797	913	32	3	29	3	CCDC158	4	77234349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3936	77234349	113919927	5388	15705											
CCDC158	339965	broad.mit.edu	37	chr4	77288498	77288498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttctttctccagttgAgctttttctacttgcatagc	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	593										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCCAGTTGAGCTTTTTCTA	0.413																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1777-1779)gcT>gcC		coiled-coil domain containing 158							108	104	105					4																	77288498		1887	4103	5990	SO:0001819	synonymous_variant	339965							g.chr4:77288498A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1779T>C	4.37:g.77288498A>G							p.A593A	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			11	1931	-			593					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1779T>C	CCDS43242.1																																																																																				0.413	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		91	436	0	0	0	1	0	91	436					G	77288498	A	G	77288498	2	3	79	1	0	0	0	0	0	0	0	1	2797	291	11	4		4	CCDC158	4	77288498	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54149	77288498	113865778	5389	15706											
CCDC158	339965	broad.mit.edu	37	chr4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgattcagatttcagtgCttcaagttgatcctctacct	7	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000388914.3	-	6	897	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	249										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTTCAGTGCTTCAAGTTGA	0.363																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(745-747)Gca>Tca		coiled-coil domain containing 158							241	207	218					4																	77304873		1839	4086	5925	SO:0001583	missense	339965							g.chr4:77304873C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.745G>T	4.37:g.77304873C>A	ENSP00000373566:p.Ala249Ser					CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			6	897	-			249					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.745G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632564	0.14322	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.32515	1.55;1.45	5.78	0.505	0.16953	.	0.527792	0.17548	N	0.170298	T	0.08179	0.0204	N	0.02539	-0.55	0.22424	N	0.999117	B;B	0.20052	0.041;0.001	B;B	0.15484	0.013;0.003	T	0.32348	-0.9910	10	0.07030	T	0.85	.	3.4218	0.07396	0.2284:0.2999:0.0:0.4717	.	249;249	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	249	ENSP00000373566:A249S;ENSP00000401742:A249S	ENSP00000316815:A249S	A	-	1	0	CCDC158	77523897	0.999000	0.42202	0.997000	0.53966	0.901000	0.52897	0.400000	0.20932	0.132000	0.18615	0.650000	0.86243	GCA		0.363	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		59	327	1	0	2.43698e-19	1	2.71768e-19	59	327					A	77304873	C	A	77304873	3	1	79	1	0	0	0	0	1	0	0	0	2797	797	28	3	2672	3	CCDC158	4	77304873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16375	77304873	113849403	5390	15707											
CCDC158	339965	broad.mit.edu	37	chr4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-													catgctgtcatgttcacataTttttttgcctgaggcttctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(610-612)tafs		coiled-coil domain containing 158							106	97	100					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965							g.chr4:77305357delT	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs					CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	762	-			204					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.610delA	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		8	522						8	522	---	---	---	---	-	77305357	T	-	77305357	7	5	79	1	0	1	0	1	0	0	0	0	2797	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	484	77305357	113848919	5391	15708											
CCDC158	339965	broad.mit.edu	37	chr4	77305391	77305391	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcttcaaagtcaactagGattgaccggatttcttgaag	9	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000388914.3	-	5	728	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000434846.2_Silent_p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	192										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAACTAGGATTGACCGGA	0.428																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(574-576)atC>atT		coiled-coil domain containing 158							137	127	130					4																	77305391		1895	4118	6013	SO:0001819	synonymous_variant	339965							g.chr4:77305391G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.576C>T	4.37:g.77305391G>A						CCDC158_ENST00000434846.2_Silent_p.I192I	p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	728	-			192					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.576C>T	CCDS43242.1																																																																																				0.428	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		102	450	0	0	0	1	0	102	450					A	77305391	G	A	77305391	2	1	79	1	0	0	0	0	0	0	0	1	2797	1164	41	2		2	CCDC158	4	77305391	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	77305391	113848885	5392	15709											
SHROOM3	57619	broad.mit.edu	37	chr4	77631357	77631357	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatactggtgcctctaacttCgtcagcccagaacacctcac	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	124					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(370-372)ttC>ttT		shroom family member 3							111	99	103					4																	77631357		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77631357C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.372C>T	4.37:g.77631357C>T						SHROOM3_ENST00000473602.1_3'UTR	p.F124F	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		3	1325	+			124					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.372C>T	CCDS3579.2																																																																																				0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		81	345	0	0	0	1	0	81	345					T	77631357	C	T	77631357	2	4	79	1	0	0	0	0	0	0	0	1	14345	883	31	1		1	SHROOM3	4	77631357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325966	77631357	113522919	5393	15710											
SHROOM3	57619	broad.mit.edu	37	chr4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatggacaatacttctgctCgaggtggcctcctcgaaggg	12	12	1	0	rs202185868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(874-876)Cga>Tga		shroom family member 3							50	49	49					4																	77660200		2203	4300	6503	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660200C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.874C>T	4.37:g.77660200C>T	ENSP00000296043:p.Arg292*						p.R292*	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1827	+			292					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.874C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	SHROOM3	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		46	176	0	0	0	1	0	46	176					T	77660200	C	T	77660200	4	4	79	1	0	0	0	0	0	1	0	0	14345	876	31	1	892	1	SHROOM3	4	77660200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28843	77660200	113494076	5394	15711											
SHROOM3	57619	broad.mit.edu	37	chr4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctcaggcctggcaagCgggtgaagacaagagatctt	14	9	3	3	rs576535579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	613					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.0					ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1837-1839)gCg>gTg		shroom family member 3							146	149	148					4																	77661164		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661164C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1838C>T	4.37:g.77661164C>T	ENSP00000296043:p.Ala613Val						p.A613V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2791	+			613					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1838C>T	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733713|-1.733713	0.00687|0.00687	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000296043|ENST00000380735	T|.	0.17854|.	2.25|.	5.64|5.64	-3.6|-3.6	0.04570|0.04570	.|.	1.549080|.	0.03546|.	N|.	0.224670|.	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.002|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|6	0.06625|0.72032	T|D	0.88|0.01	-4.4057|-4.4057	8.8457|8.8457	0.35168|0.35168	0.0:0.4991:0.1238:0.3771|0.0:0.4991:0.1238:0.3771	.|.	437;613;391|.	B4E244;Q8TF72;B3KY47|.	.;SHRM3_HUMAN;.|.	V|W	613|153	ENSP00000296043:A613V|.	ENSP00000296043:A613V|ENSP00000370111:R153W	A|R	+|+	2|1	0|2	SHROOM3|SHROOM3	77880188|77880188	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.204000|0.204000	0.24138|0.24138	0.001000|0.001000	0.13038|0.13038	-0.485000|-0.485000	0.06754|0.06754	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		131	671	0	0	0	1	0	131	671					T	77661164	C	T	77661164	3	4	79	1	0	0	0	0	1	0	0	0	14345	768	27	1	1856	1	SHROOM3	4	77661164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	77661164	113493112	5395	15712											
SHROOM3	57619	broad.mit.edu	37	chr4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccaagtcccgaagagcCgcctgccccctcgcacccgc	9	21	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	745					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGAAGAGCCGCCTGCCCCC	0.697																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2233-2235)cCg>cTg		shroom family member 3							16	20	18					4																	77661560		2188	4281	6469	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661560C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2234C>T	4.37:g.77661560C>T	ENSP00000296043:p.Pro745Leu						p.P745L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3187	+			745					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2234C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560874	0.03939	.	.	ENSG00000138771	ENST00000296043	T	0.30981	1.51	4.93	1.23	0.21249	.	1.031020	0.07679	N	0.936730	T	0.27900	0.0687	L	0.48362	1.52	0.09310	N	1	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.14023	0.006;0.01;0.01	T	0.30327	-0.9982	10	0.23302	T	0.38	-2.7222	12.1817	0.54216	0.0:0.6199:0.0:0.3801	.	569;745;523	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	745	ENSP00000296043:P745L	ENSP00000296043:P745L	P	+	2	0	SHROOM3	77880584	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.382000	0.20635	-0.120000	0.11809	-2.041000	0.00417	CCG		0.697	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		29	288	0	0	0	1	0	29	288					T	77661560	C	T	77661560	3	4	79	1	0	0	0	0	1	0	0	0	14345	652	23	1	2252	1	SHROOM3	4	77661560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	77661560	113492716	5396	15713											
SHROOM3	57619	broad.mit.edu	37	chr4	77675851	77675851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaagaggctgtgagggCgatggcccagagcatggggt	19	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1405					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4213-4215)ggC>ggT		shroom family member 3							51	42	45					4																	77675851		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675851C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4215C>T	4.37:g.77675851C>T							p.G1405G	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5168	+			1405					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4215C>T	CCDS3579.2																																																																																				0.637	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		36	172	0	0	0	1	0	36	172					T	77675851	C	T	77675851	2	4	79	1	0	0	0	0	0	0	0	1	14345	755	27	1		1	SHROOM3	4	77675851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14291	77675851	113478425	5397	15714											
SHROOM3	57619	broad.mit.edu	37	chr4	77675938	77675938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcgagcaaagtgggcCcacgcagccagagaggacag	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1434					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4300-4302)gcC>gcT		shroom family member 3							50	45	47					4																	77675938		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675938C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4302C>T	4.37:g.77675938C>T							p.A1434A	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5255	+			1434					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4302C>T	CCDS3579.2																																																																																				0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		41	172	0	0	0	1	0	41	172					T	77675938	C	T	77675938	2	4	79	1	0	0	0	0	0	0	0	1	14345	610	22	2		2	SHROOM3	4	77675938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	77675938	113478338	5398	15715											
ANKRD56	345079	broad.mit.edu	37	chr4	77817328	77817328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgccaaccccgctcggCcacaacagccttaacctctg	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817328C>T	ENST00000334306.2	-	1	1674	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	559																	CCCCGCTCGGCCACAACAGCC	0.602																																						ENST00000334306.2																			0											c.(1675-1677)Gcc>Acc		sosondowah ankyrin repeat domain family member B							41	42	42					4																	77817328		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817328C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1675G>A	4.37:g.77817328C>T	ENSP00000334879:p.Ala559Thr						p.A559T	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1674	-			559					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1675G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335244	0.11013	.	.	ENSG00000186212	ENST00000334306	T	0.05025	3.51	4.96	3.05	0.35203	.	1.548280	0.05051	U	0.478157	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.34601	-0.9822	10	0.10111	T	0.7	0.1086	9.3597	0.38188	0.1518:0.7645:0.0:0.0837	.	559	A6NEL2	ANR56_HUMAN	T	559	ENSP00000334879:A559T	ENSP00000334879:A559T	A	-	1	0	ANKRD56	78036352	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-0.962000	0.03841	1.277000	0.44412	0.591000	0.81541	GCC		0.602	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		58	196	0	0	0	1	0	58	196					T	77817328	C	T	77817328	3	4	79	1	0	0	0	0	1	0	0	0	682	739	26	2	710	2	ANKRD56	4	77817328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141390	77817328	113336948	5399	15716											
ANKRD56	345079	broad.mit.edu	37	chr4	77817687	77817687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatacagaaaggcccccaGctggattcctgagcttcccc	10	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817687G>T	ENST00000334306.2	-	1	1315	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	439																	AAGGCCCCCAGCTGGATTCCT	0.622																																						ENST00000334306.2																			0											c.(1315-1317)gCt>gAt		sosondowah ankyrin repeat domain family member B							47	58	54					4																	77817687		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817687G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1316C>A	4.37:g.77817687G>T	ENSP00000334879:p.Ala439Asp						p.A439D	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1315	-			439					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1316C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872085	0.51695	.	.	ENSG00000186212	ENST00000334306	T	0.07114	3.22	5.05	2.77	0.32553	.	0.491680	0.17923	U	0.157429	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.43478	0.421	T	0.27872	-1.0061	10	0.13470	T	0.59	-4.2046	6.0404	0.19730	0.1359:0.283:0.5811:0.0	.	439	A6NEL2	ANR56_HUMAN	D	439	ENSP00000334879:A439D	ENSP00000334879:A439D	A	-	2	0	ANKRD56	78036711	0.000000	0.05858	0.032000	0.17829	0.001000	0.01503	0.033000	0.13754	0.991000	0.38814	0.655000	0.94253	GCT		0.622	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		121	524	1	0	2.21197e-46	1	2.71663e-46	121	524					T	77817687	G	T	77817687	3	4	79	1	0	0	0	0	1	0	0	0	682	971	34	3	1069	3	ANKRD56	4	77817687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359	77817687	113336589	5400	15717											
CCNI	10983	broad.mit.edu	37	chr4	77976531	77976531	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgacactgcaatggcatgGaactgaaaatcacaagaaca	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	ENST00000237654.4	-	6	1038	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_ENST00000504697.1_5'Flank|CCNI_ENST00000537948.1_Silent_p.F140F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	154					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CAATGGCATGGAACTGAAAAT	0.333																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(460-462)ttC>ttT		cyclin I							65	62	63					4																	77976531		2203	4300	6503	SO:0001819	synonymous_variant	10983				spermatogenesis			g.chr4:77976531G>A	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.462C>T	4.37:g.77976531G>A						CCNI_ENST00000537948.1_Silent_p.F140F	p.F154F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			6	1038	-			154					B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	c.462C>T	CCDS3580.1																																																																																				0.333	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		10	135	0	0	0	1	0	10	135					A	77976531	G	A	77976531	2	1	79	1	0	0	0	0	0	0	0	1	2935	1165	41	2		2	CCNI	4	77976531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158844	77976531	113177745	5401	15718											
CCNG2	901	broad.mit.edu	37	chr4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtataggaaagaaatactgaGccttgataaactagaagctc	9	6	0	4	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	181					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(541-543)aGc>aAc		cyclin G2							51	58	56					4																	78082647		2203	4300	6503	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78082647G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.542G>A	4.37:g.78082647G>A	ENSP00000315743:p.Ser181Asn					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			5	898	+			181					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.542G>A	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789230	0.16258	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.79	1.94	0.25998	.	0.206903	0.64402	N	0.000008	T	0.12305	0.0299	N	0.08118	0	0.35924	D	0.832029	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.25606	-1.0127	10	0.07482	T	0.82	-6.0749	9.1384	0.36888	0.5175:0.0:0.4825:0.0	.	181;181	B4DF25;Q16589	.;CCNG2_HUMAN	N	181	ENSP00000315743:S181N;ENSP00000346379:S181N;ENSP00000424665:S181N;ENSP00000379002:S181N;ENSP00000426476:S181N	ENSP00000315743:S181N	S	+	2	0	CCNG2	78301671	0.987000	0.35691	0.933000	0.37362	0.985000	0.73830	1.740000	0.38228	0.311000	0.23014	-0.345000	0.07892	AGC		0.333	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		52	223	0	0	0	1	0	52	223					A	78082647	G	A	78082647	3	1	79	1	0	0	0	0	1	0	0	0	2933	971	34	2	556	2	CCNG2	4	78082647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106116	78082647	113071629	5402	15719											
CCNG2	901	broad.mit.edu	37	chr4	78086953	78086953	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctctttttctctttaGtgaggactcttgtgaagata	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000497512.1_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.e8-1		cyclin G2							84	82	82					4																	78086953		2203	4300	6503	SO:0001630	splice_region_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78086953G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.912-1G>A	4.37:g.78086953G>A						CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000395640.1_Splice_Site		NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			8	1267	+								B4DF25|Q6FGA7|Q6FGC6	Splice_Site	SNP	ENST00000316355.5	37		CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794848	0.50102	.	.	ENSG00000138764	ENST00000316355;ENST00000502280;ENST00000395640	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8598	0.86014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNG2	78305977	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.334000	0.96470	2.407000	0.81776	0.655000	0.94253	.		0.378	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354	Intron	42	205	0	0	0	1	0	42	205					A	78086953	G	A	78086953	5	1	79	1	0	0	0	0	0	0	1	0	2933	1043	36	2	937	2	CCNG2	4	78086953	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	78086953	113067323	5403	15720											
CNOT6L	246175	broad.mit.edu	37	chr4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaagatctgcacatagcaCcagcgggatggaattaggat	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	406	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1216-1218)Gtg>Atg		CCR4-NOT transcription complex, subunit 6-like							120	117	118					4																	78650044		1881	4113	5994	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650044C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1216G>A	4.37:g.78650044C>T	ENSP00000424896:p.Val406Met					CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M	p.V406M			Q96LI5	CNO6L_HUMAN			10	1346	-			406					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1216G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368717|4.368717	0.82463|0.82463	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97642|0.97642	0.9227|0.9227	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.884	.|D;P	.|0.69654	.|0.965;0.696	D|D	0.98104|0.98104	1.0416|1.0416	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;406	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|M	434|406;406;413;181	.|ENSP00000424896:V406M;ENSP00000264903:V406M;ENSP00000425571:V413M;ENSP00000426320:V181M	.|ENSP00000264903:V406M	G|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78869068|78869068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			87	515	0	0	0	1	0	87	515					T	78650044	C	T	78650044	3	4	79	1	0	0	0	0	1	0	0	0	3632	507	18	2	463	2	CNOT6L	4	78650044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	563091	78650044	112504232	5404	15721											
CNOT6L	246175	broad.mit.edu	37	chr4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatactctgggtcccaatGcatgtgggcatttgccacta	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	362	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1084-1086)Cat>Tat		CCR4-NOT transcription complex, subunit 6-like							111	105	107					4																	78650176		1858	4089	5947	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650176G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1084C>T	4.37:g.78650176G>A	ENSP00000424896:p.His362Tyr					CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y	p.H362Y			Q96LI5	CNO6L_HUMAN			10	1214	-			362					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1084C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.042181|4.042181	0.75732|0.75732	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87297|0.87297	0.6142|0.6142	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.565	.|D;P	.|0.87578	.|0.998;0.77	D|D	0.85435|0.85435	0.1151|0.1151	5|10	.|0.39692	.|T	.|0.17	-4.3727|-4.3727	19.8926|19.8926	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;362	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	V|Y	390|362;362;369;137	.|ENSP00000424896:H362Y;ENSP00000264903:H362Y;ENSP00000425571:H369Y;ENSP00000426320:H137Y	.|ENSP00000264903:H362Y	A|H	-|-	2|1	0|0	CNOT6L|CNOT6L	78869200|78869200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|CAT		0.408	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			92	451	0	0	0	1	0	92	451					A	78650176	G	A	78650176	3	1	79	1	0	0	0	0	1	0	0	0	3632	1319	46	2	595	2	CNOT6L	4	78650176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	78650176	112504100	5405	15722											
CNOT6L	246175	broad.mit.edu	37	chr4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcagctgtttgtctgcaGcatgaataggcttcatacct	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	348	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1042-1044)gCt>gTt		CCR4-NOT transcription complex, subunit 6-like							87	83	84					4																	78650217		1848	4099	5947	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650217G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1043C>T	4.37:g.78650217G>A	ENSP00000424896:p.Ala348Val					CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V	p.A348V			Q96LI5	CNO6L_HUMAN			10	1173	-			348					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1043C>T		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545002	0.45280	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.43688	1.53;1.53;1.68;0.94	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.297866	0.37304	N	0.002160	T	0.22742	0.0549	N	0.03154	-0.405	0.40114	D	0.976523	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.14476	-1.0471	10	0.11485	T	0.65	-3.1273	18.444	0.90677	0.0:0.0:1.0:0.0	.	321;348	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	V	348;348;355;123	ENSP00000424896:A348V;ENSP00000264903:A348V;ENSP00000425571:A355V;ENSP00000426320:A123V	ENSP00000264903:A348V	A	-	2	0	CNOT6L	78869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.653000	0.90120	0.563000	0.77884	GCT		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			88	354	0	0	0	1	0	88	354					A	78650217	G	A	78650217	3	1	79	1	0	0	0	0	1	0	0	0	3632	971	34	2	636	2	CNOT6L	4	78650217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	78650217	112504059	5406	15723											
CNOT6L	246175	broad.mit.edu	37	chr4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttaggtgcagcgctgTcaagtgtgtcaatgaccaaa	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(175-177)Aca>Cca		CCR4-NOT transcription complex, subunit 6-like							87	82	83					4																	78695823		1969	4180	6149	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78695823T>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.175A>C	4.37:g.78695823T>G	ENSP00000424896:p.Thr59Pro					CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P|CNOT6L_ENST00000506166.1_5'UTR	p.T59P			Q96LI5	CNO6L_HUMAN			3	305	-			59					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.175A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459601|4.459601	0.84317|0.84317	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.59224	.|0.28;0.28;0.28;0.28	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.75761|0.75761	-0.3204|-0.3204	5|10	.|0.72032	.|D	.|0.01	-14.9073|-14.9073	13.7427|13.7427	0.62857|0.62857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;59	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	A|P	87|59;59;66;59	.|ENSP00000424896:T59P;ENSP00000264903:T59P;ENSP00000425571:T66P;ENSP00000426269:T59P	.|ENSP00000264903:T59P	D|T	-|-	2|1	0|0	CNOT6L|CNOT6L	78914847|78914847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.946000|7.946000	0.87746|0.87746	1.685000|1.685000	0.51034|0.51034	0.459000|0.459000	0.35465|0.35465	GAC|ACA		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			28	152	0	0	0	1	0	28	152					G	78695823	T	G	78695823	3	3	79	1	0	0	0	0	1	0	0	0	3632	1667	58	4	1532	4	CNOT6L	4	78695823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45606	78695823	112458453	5407	15724											
MRPL1	65008	broad.mit.edu	37	chr4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaatggagctgcatTtgcaggaggcactagtctga	14	6	1	2	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	177			F -> S (in dbSNP:rs17855456). {ECO:0000269|PubMed:15489334}.		translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(529-531)tTt>tCt		mitochondrial ribosomal protein L1							126	124	125					4																	78808417		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78808417T>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.530T>C	4.37:g.78808417T>C	ENSP00000315017:p.Phe177Ser					MRPL1_ENST00000506674.1_3'UTR	p.F177S	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			5	859	+			177		F -> S (in dbSNP:rs17855456).			A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.530T>C	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123426	0.77436	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.44881	0.91	5.96	3.51	0.40186	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.356101	0.33670	N	0.004665	T	0.48624	0.1510	M	0.74881	2.28	0.36811	D	0.885884	P;P	0.46457	0.673;0.878	B;P	0.49683	0.393;0.619	T	0.54957	-0.8215	10	0.59425	D	0.04	-11.0467	6.1015	0.20049	0.1439:0.0769:0.0:0.7792	rs17855456;rs17855456	155;177	A0PJ79;Q9BYD6	.;RM01_HUMAN	S	177;155	ENSP00000315017:F177S	ENSP00000315017:F177S	F	+	2	0	MRPL1	79027441	1.000000	0.71417	0.875000	0.34327	0.978000	0.69477	4.046000	0.57376	0.498000	0.27948	0.528000	0.53228	TTT		0.328	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		61	294	0	0	0	1	0	61	294					C	78808417	T	C	78808417	3	2	79	1	0	0	0	0	1	0	0	0	9815	1841	64	4	548	4	MRPL1	4	78808417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112594	78808417	112345859	5408	15725											
FRAS1	80144	broad.mit.edu	37	chr4	79343150	79343150	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctcatggccttctcgttCgctggtaatgctctcctctc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79343150C>T	ENST00000325942.6	+	34	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_ENST00000264895.6_Silent_p.F1558F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1558					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4672-4674)ttC>ttT		Fraser syndrome 1							107	117	114					4																	79343150		2073	4195	6268	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79343150C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4674C>T	4.37:g.79343150C>T						FRAS1_ENST00000325942.6_Silent_p.F1558F	p.F1558F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			34	5114	+			1557					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4674C>T	CCDS54772.1																																																																																				0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			26	741	0	0	0	1	0	26	741					T	79343150	C	T	79343150	2	4	79	1	0	0	0	0	0	0	0	1	6069	883	31	1		1	FRAS1	4	79343150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534733	79343150	111811126	5409	15726											
FRAS1	80144	broad.mit.edu	37	chr4	79367898	79367898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagaacgatgagccTcccaggatgaccttgcagcc	12	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1958					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACGATGAGCCTCCCAGGATGA	0.443																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5872-5874)ccT>ccC		Fraser syndrome 1							62	65	64					4																	79367898		1967	4164	6131	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79367898T>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5874T>C	4.37:g.79367898T>C							p.P1958P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			43	6314	+			1957					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.5874T>C	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	1.378	-0.584137	0.03827	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.78	-1.45	0.08828	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	0.682	0.00876	0.3835:0.2441:0.1189:0.2534	.	.	.	.	P	187	.	.	S	+	1	0	FRAS1	79586922	0.999000	0.42202	0.991000	0.47740	0.106000	0.19336	0.367000	0.20382	-0.432000	0.07297	-1.140000	0.01884	TCC		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	133	0	0	0	1	0	7	133					C	79367898	T	C	79367898	2	2	79	1	0	0	0	0	0	0	0	1	6069	1538	54	4		4	FRAS1	4	79367898	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24748	79367898	111786378	5410	15727											
FRAS1	80144	broad.mit.edu	37	chr4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgactatcttggatgacactCagtatccggtaattgaagga	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2875	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGATGACACTCAGTATCCGGT	0.458																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8635-8637)Cag>Tag		Fraser syndrome 1							227	228	228					4																	79403572		1932	4137	6069	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403572C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8635C>T	4.37:g.79403572C>T	ENSP00000264895:p.Gln2879*						p.Q2879*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			58	9075	+			2874			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.8635C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.690586|9.690586	0.99240|0.99240	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.059791|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76990	.|0.4065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|4	0.40728|.	T|.	0.16|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2879|1107	.|.	ENSP00000264895:Q2879X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79622596|79622596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CAG|TCA		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				192	805	0	0	0	1	0	192	805					T	79403572	C	T	79403572	4	4	79	1	0	0	0	0	0	1	0	0	6069	827	29	2	8940	2	FRAS1	4	79403572	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35674	79403572	111750704	5411	15728											
FRAS1	80144	broad.mit.edu	37	chr4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattattacccaaagagcCgagtcttgaagttcagtccc	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3095	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAAAGAGCCGAGTCTTGAA	0.483																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9295-9297)Cga>Tga		Fraser syndrome 1							122	116	118					4																	79421054		1912	4149	6061	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79421054C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9295C>T	4.37:g.79421054C>T	ENSP00000264895:p.Arg3099*						p.R3099*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			61	9735	+			3094			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.9295C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.057578|9.057578	0.99051|0.99051	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.91|5.91	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	4|.	.|0.02654	.|T	.|1	.|.	14.9947|14.9947	0.71421|0.71421	0.3824:0.6176:0.0:0.0|0.3824:0.6176:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1327|3099	.|.	.|ENSP00000264895:R3099X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79640078|79640078	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.505000|0.505000	0.33919|0.33919	1.505000|1.505000	0.35736|0.35736	0.331000|0.331000	0.23511|0.23511	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				101	373	0	0	0	1	0	101	373					T	79421054	C	T	79421054	4	4	79	1	0	0	0	0	0	1	0	0	6069	644	23	1	9612	1	FRAS1	4	79421054	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17482	79421054	111733222	5412	15729											
FRAS1	80144	broad.mit.edu	37	chr4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtggatcatatcttTtttaaagttgagatcctgtc	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3107	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCATATCTTTTTTAAAGTTG	0.473																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9331-9333)ttT>ttG		Fraser syndrome 1							97	89	92					4																	79428591		1944	4136	6080	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79428591T>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9333T>G	4.37:g.79428591T>G	ENSP00000264895:p.Phe3111Leu						p.F3111L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			62	9773	+			3106			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9333T>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.037|9.037	0.988810|0.988810	0.18966|0.18966	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.28454|0.28895	1.61|1.59	5.25|5.25	-3.37|-3.37	0.04898|0.04898	.|.	0.645296|0.645296	0.14834|0.14834	N|N	0.295696|0.295696	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|8	0.08837|0.08837	T|T	0.75|0.75	.|.	5.8971|5.8971	0.18945|0.18945	0.1005:0.5096:0.1866:0.2032|0.1005:0.5096:0.1866:0.2032	.|.	3110;3111|.	Q86XX4-2;E9PHH6|.	.;.|.	L|V	3111|1340	ENSP00000264895:F3111L|ENSP00000422834:F1340V	ENSP00000264895:F3111L|ENSP00000422834:F1340V	F|F	+|+	3|1	2|0	FRAS1|FRAS1	79647615|79647615	0.005000|0.005000	0.15991|0.15991	0.964000|0.964000	0.40570|0.40570	0.939000|0.939000	0.58152|0.58152	-1.613000|-1.613000	0.02059|0.02059	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	TTT|TTT		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	123	0	0	0	1	0	23	123					G	79428591	T	G	79428591	3	3	79	1	0	0	0	0	1	0	0	0	6069	1838	64	4	9654	4	FRAS1	4	79428591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7537	79428591	111725685	5413	15730											
FRAS1	80144	broad.mit.edu	37	chr4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagggacctggtagagcccGatggccagctgatccttgat	14	10	0	3	rs376591687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3855					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTAGAGCCCGATGGCCAGCT	0.537																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11575-11577)Gat>Aat		Fraser syndrome 1		A	ASN/ASP	0,4042		0,0,2021	42	45	44		11575	4.3	1	4		44	1,8363		0,1,4181	no	missense	FRAS1	NM_025074.6	23	0,1,6202	AA,AG,GG		0.012,0.0,0.0081	benign	3859/4013	79461814	1,12405	2021	4182	6203	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79461814G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11575G>A	4.37:g.79461814G>A	ENSP00000264895:p.Asp3859Asn						p.D3859N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12015	+			3854					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11575G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.470|5.470	0.271699|0.271699	0.10349|0.10349	0.0|0.0	1.2E-4|1.2E-4	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.40756|.	1.02|.	5.55|5.55	4.31|4.31	0.51392|0.51392	.|.	0.453509|.	0.24245|.	N|.	0.040236|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.39692|.	T|.	0.17|.	.|.	5.7709|5.7709	0.18253|0.18253	0.725:0.0:0.1481:0.1269|0.725:0.0:0.1481:0.1269	.|.	3859|.	E9PHH6|.	.|.	N|Q	3859|2087	ENSP00000264895:D3859N|.	ENSP00000264895:D3859N|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79680838|79680838	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	1.166000|1.166000	0.31834|0.31834	1.120000|1.120000	0.41904|0.41904	-0.352000|-0.352000	0.07741|0.07741	GAT|CGA		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				36	129	0	0	0	1	0	36	129					A	79461814	G	A	79461814	3	1	79	1	0	0	0	0	1	0	0	0	6069	1058	37	1	11944	1	FRAS1	4	79461814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33223	79461814	111692462	5414	15731											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs202184856|rs200441916|rs2114202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1456-1464)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792161_79792169delCAGCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1456_1464delCAGCACCAC	4.37:g.79792161_79792169delCAGCACCAC	ENSP00000334836:p.Gln486_His488del					BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1622_1630	+			486	Missing (in Ref. 2; CAB70863).	Q -> H (in dbSNP:rs2114202).	Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1456_1464delCAGCACCAC	CCDS47083.1																																																																																				0.488	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		9	327						9	327	---	---	---	---	-	79792169	CAGCACCAC	-	79792161	7	5	79	1	0	1	0	1	0	0	0	0	1462	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-IB-7651-01A-11D-2154-08	330347	79792161	111362115	5415	15732											
BMP2K	55589	broad.mit.edu	37	chr4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtgccaagcccttccaTtctccagacctgtcatggca	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(3223-3225)caT>caA		BMP2 inducible kinase							85	85	85					4																	79832926		1986	4175	6161	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832926T>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3225T>A	4.37:g.79832926T>A	ENSP00000334836:p.His1075Gln					PAQR3_ENST00000295462.3_Intron	p.H1075Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	3391	+			1075					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.3225T>A	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.759|8.759	0.923117|0.923117	0.18056|0.18056	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|T	.|0.47869	.|0.83	5.41|5.41	1.7|1.7	0.24286|0.24286	.|.	.|0.202762	.|0.40469	.|N	.|0.001092	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.55161	.|0.77	T|T	0.53655|0.53655	-0.8408|-0.8408	5|10	.|0.66056	.|D	.|0.02	-14.2633|-14.2633	7.5944|7.5944	0.28039|0.28039	0.0:0.3899:0.0:0.6101|0.0:0.3899:0.0:0.6101	.|.	.|1075	.|Q9NSY1	.|BMP2K_HUMAN	I|Q	768|1075	.|ENSP00000334836:H1075Q	.|ENSP00000334836:H1075Q	F|H	+|+	1|3	0|2	BMP2K|BMP2K	80051950|80051950	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.008000|0.008000	0.06430|0.06430	1.194000|1.194000	0.32174|0.32174	0.357000|0.357000	0.24183|0.24183	0.397000|0.397000	0.26171|0.26171	TTC|CAT		0.537	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		103	374	0	0	0	1	0	103	374					A	79832926	T	A	79832926	3	1	79	1	0	0	0	0	1	0	0	0	1462	1490	52	5	3325	5	BMP2K	4	79832926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40765	79832926	111321350	5416	15733											
GK2	2712	broad.mit.edu	37	chr4	80328744	80328744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatattaaaaagcattgtcCtacttgcatttgttacatct	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328744C>A	ENST00000358842.3	-	1	628	c.611G>T	c.(610-612)aGg>aTg	p.R204M		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)			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						AAGCATTGTCCTACTTGCATT	0.388																																						ENST00000358842.3																			0				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						c.(610-612)aGg>aTg		glycerol kinase 2							91	90	90					4																	80328744		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328744C>A	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.611G>T	4.37:g.80328744C>A	ENSP00000351706:p.Arg204Met						p.R204M	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	628	-			204					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.611G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416965	0.42918	.	.	ENSG00000196475	ENST00000358842	T	0.50548	0.74	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86724	0.1944	10	0.87932	D	0	-2.7747	14.2359	0.65927	0.0:1.0:0.0:0.0	.	204	Q14410	GLPK2_HUMAN	M	204	ENSP00000351706:R204M	ENSP00000351706:R204M	R	-	2	0	GK2	80547768	1.000000	0.71417	0.188000	0.23233	0.215000	0.24574	7.259000	0.78381	2.496000	0.84212	0.585000	0.79938	AGG		0.388	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		75	433	1	0	4.09166e-32	1	4.82809e-32	75	433					A	80328744	C	A	80328744	3	1	79	1	0	0	0	0	1	0	0	0	6450	681	24	3	1054	3	GK2	4	80328744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495818	80328744	110825532	5417	15734											
GK2	2712	broad.mit.edu	37	chr4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgcacgcctccattaaCtcctcctgtcaaactccaga	4	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0	Substrate binding.				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)			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						CCTCCATTAACTCCTCCTGTC	0.398																																						ENST00000358842.3																			0				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						c.(568-570)Gtt>Att		glycerol kinase 2							109	105	106					4																	80328787		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328787C>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.568G>A	4.37:g.80328787C>T	ENSP00000351706:p.Val190Ile						p.V190I	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	585	-			190					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.568G>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800609	0.02841	.	.	ENSG00000196475	ENST00000358842	T	0.57907	0.37	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.464515	0.22498	N	0.059269	T	0.36358	0.0964	L	0.38649	1.16	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.12682	-1.0538	10	0.24483	T	0.36	-16.8897	5.7773	0.18287	0.0:0.766:0.0:0.2339	.	190	Q14410	GLPK2_HUMAN	I	190	ENSP00000351706:V190I	ENSP00000351706:V190I	V	-	1	0	GK2	80547811	0.081000	0.21417	0.539000	0.28077	0.083000	0.17756	1.572000	0.36461	1.185000	0.42971	0.585000	0.79938	GTT		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		80	422	0	0	0	1	0	80	422					T	80328787	C	T	80328787	3	4	79	1	0	0	0	0	1	0	0	0	6450	565	20	2	1097	2	GK2	4	80328787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	80328787	110825489	5418	15735											
GK2	2712	broad.mit.edu	37	chr4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaccgctcccaccaacGgccccacagctgctgtcttt	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		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)			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						TCCCACCAACGGCCCCACAGC	0.572																																						ENST00000358842.3																			0				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						c.(31-33)cCg>cTg		glycerol kinase 2							31	32	32					4																	80329323		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329323G>A	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.32C>T	4.37:g.80329323G>A	ENSP00000351706:p.Pro11Leu						p.P11L	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	49	-			11					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.32C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645546	0.29246	.	.	ENSG00000196475	ENST00000358842	T	0.14640	2.49	3.74	2.89	0.33648	.	0.183018	0.48286	D	0.000186	T	0.19046	0.0457	L	0.56280	1.765	0.80722	D	1	D	0.58970	0.984	P	0.50109	0.631	T	0.01440	-1.1354	10	0.66056	D	0.02	-6.7856	9.5498	0.39304	0.1063:0.0:0.8937:0.0	.	11	Q14410	GLPK2_HUMAN	L	11	ENSP00000351706:P11L	ENSP00000351706:P11L	P	-	2	0	GK2	80548347	1.000000	0.71417	0.904000	0.35570	0.600000	0.36913	5.242000	0.65389	1.160000	0.42584	0.460000	0.39030	CCG		0.572	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		28	188	0	0	0	1	0	28	188					A	80329323	G	A	80329323	3	1	79	1	0	0	0	0	1	0	0	0	6450	1116	39	1	1633	1	GK2	4	80329323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	80329323	110824953	5419	15736											
PRDM8	56978	broad.mit.edu	37	chr4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccgctgccgccggcggcaGcagcgcgaagccatccacag	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000504452.1	+	8	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	253	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(757-759)aGc>aTc		PR domain containing 8							19	26	24					4																	81123374		1583	3656	5239	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123374G>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.758G>T	4.37:g.81123374G>T	ENSP00000423985:p.Ser253Ile		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I|PRDM8_ENST00000504452.1_Missense_Mutation_p.S253I	p.S253I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1989	+			253			Gly-rich.|Ser-rich.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.758G>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464675	0.12402	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65178	-0.14;0.43;-0.14;-0.14	4.52	0.658	0.17855	.	0.584987	0.17590	U	0.168790	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.14023	0.01	T	0.19516	-1.0303	10	0.56958	D	0.05	.	4.8306	0.13437	0.1974:0.3288:0.4738:0.0	.	253	Q9NQV8	PRDM8_HUMAN	I	253	ENSP00000423985:S253I;ENSP00000425149:S253I;ENSP00000339764:S253I;ENSP00000406998:S253I	ENSP00000339764:S253I	S	+	2	0	PRDM8	81342398	0.124000	0.22315	0.000000	0.03702	0.187000	0.23431	0.082000	0.14847	-0.089000	0.12484	0.313000	0.20887	AGC		0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			49	300	1	0	9.86064e-34	1	1.16979e-33	49	300					T	81123374	G	T	81123374	3	4	79	1	0	0	0	0	1	0	0	0	12509	971	34	3	768	3	PRDM8	4	81123374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	794051	81123374	110030902	5420	15737											
C4orf22	255119	broad.mit.edu	37	chr4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagagaagaagacaatcGcagtggaaaactgagtgtaa	12	4	0	5	rs150179610	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		13718	0.001		0.001	False		,,,				2504	0.0					ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(316-318)cGc>cAc		chromosome 4 open reading frame 22							73	71	72					4																	81504321		2203	4300	6503	SO:0001583	missense	255119							g.chr4:81504321G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.317G>A	4.37:g.81504321G>A	ENSP00000350818:p.Arg106His					C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			3	366	+			106					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.317G>A	CCDS3587.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.08	3.021501	0.54576	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.55	3.77	0.43336	.	0.207143	0.40222	N	0.001144	T	0.63757	0.2538	M	0.91818	3.245	0.37468	D	0.915485	D;D	0.89917	1.0;1.0	D;D	0.75484	0.981;0.986	T	0.71104	-0.4689	10	0.62326	D	0.03	.	9.1071	0.36705	0.077:0.0:0.7644:0.1587	.	106;106	E7EQ13;Q6V702	.;CD022_HUMAN	H	106	ENSP00000350818:R106H;ENSP00000425786:R106H	ENSP00000350818:R106H	R	+	2	0	C4orf22	81723345	1.000000	0.71417	0.627000	0.29227	0.259000	0.26198	3.675000	0.54605	0.837000	0.34925	0.655000	0.94253	CGC		0.343	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		52	250	0	0	0	1	0	52	250					A	81504321	G	A	81504321	3	1	79	1	0	0	0	0	1	0	0	0	2262	1087	38	1	327	1	C4orf22	4	81504321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380947	81504321	109649955	5421	15738											
BMP3	651	broad.mit.edu	37	chr4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagtcaactccttggccatCtgtcagtggatatggccaaa	9	10	3	0	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(547-549)Ctg>Atg		bone morphogenetic protein 3							156	156	156					4																	81967122		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967122C>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.547C>A	4.37:g.81967122C>A	ENSP00000282701:p.Leu183Met						p.L183M	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	867	+			183					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.547C>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458660	0.26248	.	.	ENSG00000152785	ENST00000282701	T	0.64438	-0.1	4.84	2.98	0.34508	Transforming growth factor-beta, N-terminal (1);	0.162830	0.56097	D	0.000038	T	0.65270	0.2675	M	0.70275	2.135	0.28301	N	0.923107	D	0.60575	0.988	P	0.55923	0.787	T	0.59473	-0.7448	10	0.40728	T	0.16	.	2.6952	0.05133	0.2072:0.4839:0.0:0.3089	.	183	P12645	BMP3_HUMAN	M	183	ENSP00000282701:L183M	ENSP00000282701:L183M	L	+	1	2	BMP3	82186146	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	3.579000	0.53900	1.412000	0.46977	0.655000	0.94253	CTG		0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			138	741	1	0	2.40396e-54	1	3.00087e-54	138	741					A	81967122	C	A	81967122	3	1	79	1	0	0	0	0	1	0	0	0	1463	912	32	3	553	3	BMP3	4	81967122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462801	81967122	109187154	5422	15739											
BMP3	651	broad.mit.edu	37	chr4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatctcatcgagatattatgTcctggctgtctaaagatatc	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	196					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGATATTATGTCCTGGCTGTC	0.443																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(586-588)Tcc>Acc		bone morphogenetic protein 3							134	143	140					4																	81967161		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967161T>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.586T>A	4.37:g.81967161T>A	ENSP00000282701:p.Ser196Thr						p.S196T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	906	+			196					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.586T>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663966	0.03428	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	5.08	-2.37	0.06643	Transforming growth factor-beta, N-terminal (1);	0.315470	0.40064	N	0.001194	T	0.45657	0.1353	M	0.66939	2.045	0.27087	N	0.962947	B	0.11235	0.004	B	0.12156	0.007	T	0.20438	-1.0275	10	0.13470	T	0.59	.	1.5263	0.02526	0.1518:0.1349:0.2093:0.504	.	196	P12645	BMP3_HUMAN	T	196	ENSP00000282701:S196T	ENSP00000282701:S196T	S	+	1	0	BMP3	82186185	0.197000	0.23362	0.056000	0.19401	0.024000	0.10985	0.753000	0.26376	-0.129000	0.11620	-0.313000	0.08912	TCC		0.443	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			151	733	0	0	0	1	0	151	733					A	81967161	T	A	81967161	3	1	79	1	0	0	0	0	1	0	0	0	1463	1667	58	5	592	5	BMP3	4	81967161	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39	81967161	109187115	5423	15740											
BMP3	651	broad.mit.edu	37	chr4	81974600	81974600	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtaccagaaaagatgtcCtcactcagtattttattctt	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81974600C>A	ENST00000282701.2	+	3	1649	c.1329C>A	c.(1327-1329)tcC>tcA	p.S443S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	443					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AAAAGATGTCCTCACTCAGTA	0.428																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1327-1329)tcC>tcA		bone morphogenetic protein 3							149	156	153					4																	81974600		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81974600C>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1329C>A	4.37:g.81974600C>A							p.S443S	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			3	1649	+			443					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.1329C>A	CCDS3588.1																																																																																				0.428	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			17	735	1	0	9.16793e-09	1	9.60025e-09	17	735					A	81974600	C	A	81974600	2	1	79	1	0	0	0	0	0	0	0	1	1463	668	24	3		3	BMP3	4	81974600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7439	81974600	109179676	5424	15741											
PRKG2	5593	broad.mit.edu	37	chr4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcttcaaatgtacCgacagtttggttgaatgttc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.G392C(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378																																						ENST00000395578.1																			2	Substitution - Missense(2)	p.G392C(2)	lung(2)	NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1174-1176)Ggt>Agt		protein kinase, cGMP-dependent, type II							146	136	139					4																	82065465		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82065465C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1174G>A	4.37:g.82065465C>T	ENSP00000378945:p.Gly392Ser					PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR	p.G392S			Q13237	KGP2_HUMAN			10	1290	-			392					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1174G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711059	0.68730	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92495	-3.05;-3.05;-3.05	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.67900	0.924;0.954	D	0.94558	0.7760	10	0.44086	T	0.13	-25.4218	18.9359	0.92584	0.0:1.0:0.0:0.0	.	392;392	E7EPE6;Q13237	.;KGP2_HUMAN	S	392	ENSP00000378945:G392S;ENSP00000264399:G392S;ENSP00000389038:G392S	ENSP00000264399:G392S	G	-	1	0	PRKG2	82284489	1.000000	0.71417	0.962000	0.40283	0.516000	0.34256	7.010000	0.76353	2.640000	0.89533	0.655000	0.94253	GGT		0.378	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		21	445	0	0	0	1	0	21	445					T	82065465	C	T	82065465	3	4	79	1	0	0	0	0	1	0	0	0	12570	652	23	1	1154	1	PRKG2	4	82065465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90865	82065465	109088811	5425	15742											
TMEM150C	441027	broad.mit.edu	37	chr4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagtgatagatgccgacaGaataacccgtggaattccaa	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000515780.2	-	7	712	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C	170						integral component of membrane (GO:0016021)				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453																																						ENST00000449862.2																			0				ovary(1)	1						c.(508-510)Ctg>Atg		transmembrane protein 150C							193	196	195					4																	83411247		1916	4138	6054	SO:0001583	missense	441027					integral to membrane		g.chr4:83411247G>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.508C>A	4.37:g.83411247G>T	ENSP00000420919:p.Leu170Met					TMEM150C_ENST00000515780.1_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR	p.L170M	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN			7	826	-			170					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.508C>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095722	0.36952	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.53857	0.6;0.6	5.62	4.77	0.60923	.	.	.	.	.	T	0.69459	0.3113	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71144	-0.4678	9	0.56958	D	0.05	-5.2962	8.4395	0.32808	0.292:0.0:0.708:0.0	.	170	B9EJG8	T150C_HUMAN	M	170	ENSP00000403438:L170M;ENSP00000420919:L170M	ENSP00000403438:L170M	L	-	1	2	TMEM150C	83630271	1.000000	0.71417	0.841000	0.33234	0.108000	0.19459	2.295000	0.43576	1.337000	0.45525	0.462000	0.41574	CTG		0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		82	348	1	0	1.68136e-41	1	2.04314e-41	82	348					T	83411247	G	T	83411247	3	4	79	1	0	0	0	0	1	0	0	0	16121	933	33	3	249	3	TMEM150C	4	83411247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345782	83411247	107743029	5426	15743											
SEC31A	22872	broad.mit.edu	37	chr4	83742226	83742226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatacagaaactccaaAcgtttgctggcatcatctag	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000395310.2	-	26	3629	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000448323.1_Silent_p.R1149R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3484-3486)cgT>cgC		SEC31 homolog A (S. cerevisiae)							203	213	209					4																	83742226		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742226A>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3447T>C	4.37:g.83742226A>G						SEC31A_ENST00000395310.2_Silent_p.R1149R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000348405.4_Silent_p.R1110R	p.R1162R			O94979	SC31A_HUMAN			27	3649	-		Hepatocellular(203;0.114)	1149					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3486T>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270299	0.23221	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-1.08	0.09936	.	.	.	.	.	T	0.65595	0.2706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-11.6076	13.9446	0.64077	0.1817:0.0:0.8183:0.0	.	.	.	.	A	312	.	.	V	-	2	0	SEC31A	83961250	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	0.290000	0.18975	-0.129000	0.11620	-0.250000	0.11733	GTT		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		126	719	0	0	0	1	0	126	719					G	83742226	A	G	83742226	2	3	79	1	0	0	0	0	0	0	0	1	14048	30	2	4		4	SEC31A	4	83742226	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	330979	83742226	107412050	5427	15744											
SEC31A	22872	broad.mit.edu	37	chr4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagatcttcttttctgtatcCtagaagttcaaggtattttc	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000395310.2	-	12	1662	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	494					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1480-1482)Gga>Tga		SEC31 homolog A (S. cerevisiae)							98	101	100					4																	83784500		2202	4296	6498	SO:0001587	stop_gained	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83784500C>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1480G>T	4.37:g.83784500C>A	ENSP00000378721:p.Gly494*					SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*	p.G494*			O94979	SC31A_HUMAN			12	1643	-		Hepatocellular(203;0.114)	494					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	c.1480G>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.624468|7.624468	0.98396|0.98396	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.104337|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74999	.|-0.3472	.|3	0.87932|.	D|.	0|.	-3.3031|-3.3031	19.4671|19.4671	0.94946|0.94946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	494;494;494;489;494;494;494;494;494;494;494;494;494;266;494;494;95|136;47	.|.	ENSP00000264405:G266X|.	G|R	-|-	1|2	0|0	SEC31A|SEC31A	84003524|84003524	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.614000|2.614000	0.88457|0.88457	0.467000|0.467000	0.42956|0.42956	GGA|AGG		0.308	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		17	186	1	0	2.23348e-06	1	2.30073e-06	17	186					A	83784500	C	A	83784500	4	1	79	1	0	0	0	0	0	1	0	0	14048	690	24	3	2246	3	SEC31A	4	83784500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42274	83784500	107369776	5428	15745											
SEC31A	22872	broad.mit.edu	37	chr4	83793159	83793159	+	Silent	SNP	C	C	T													cgaagatcccacatctggatCactggtaaccggtcatcctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000395310.2	-	7	902	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	240	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(718-720)gtG>gtA		SEC31 homolog A (S. cerevisiae)							123	94	104					4																	83793159		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83793159C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.720G>A	4.37:g.83793159C>T						SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000395310.2_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V	p.V240V			O94979	SC31A_HUMAN			7	883	-		Hepatocellular(203;0.114)	240			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.720G>A	CCDS3596.1																																																																																				0.468	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		59	202	0	0	0	1	0	59	202					T	83793159	C	T	83793159	2	4	79	1	0	0	0	0	0	0	0	1	14048	813	29	2		2	SEC31A	4	83793159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8659	83793159	107361117	5429	15746	94	2									
SEC31A	22872	broad.mit.edu	37	chr4	83793168	83793168	+	Silent	SNP	C	C	T													cacatctggatcactggtaaCcggtcatcctcggaggcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000395310.2	-	7	893	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	237	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(709-711)cgG>cgA		SEC31 homolog A (S. cerevisiae)							123	95	104					4																	83793168		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83793168C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.711G>A	4.37:g.83793168C>T						SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000395310.2_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R	p.R237R			O94979	SC31A_HUMAN			7	874	-		Hepatocellular(203;0.114)	237			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.711G>A	CCDS3596.1																																																																																				0.473	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		50	207	0	0	0	1	0	50	207					T	83793168	C	T	83793168	2	4	79	1	0	0	0	0	0	0	0	1	14048	494	18	2		2	SEC31A	4	83793168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	83793168	107361108	5430	15747	94	2									
THAP9	79725	broad.mit.edu	37	chr4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagccgggagcgcggcCtctccttccaccagtgcgta	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000512932.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000504869.1_RNA|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000511271.1_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	23					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGAGCGCGGCCTCTCCTTCCA	0.711																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(67-69)Ctc>Atc		THAP domain containing 9							36	41	39					4																	83822022		2202	4299	6501	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83822022C>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.67C>A	4.37:g.83822022C>A	ENSP00000305533:p.Leu23Ile					THAP9-AS1_ENST00000504520.2_RNA	p.L23I	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			1	118	+		Hepatocellular(203;0.114)	23					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.67C>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172757	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96011	-3.88	4.53	3.62	0.41486	Zinc finger, C2CH-type (3);	0.416196	0.17817	N	0.160983	D	0.84142	0.5407	N	0.02403	-0.565	0.23876	N	0.996598	P	0.38711	0.643	B	0.38378	0.272	T	0.78091	-0.2339	10	0.10377	T	0.69	-0.0427	7.6213	0.28187	0.0:0.8739:0.0:0.1261	.	23	Q9H5L6	THAP9_HUMAN	I	23	ENSP00000305533:L23I	ENSP00000305533:L23I	L	+	1	0	THAP9	84041046	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.418000	0.21230	1.378000	0.46305	0.467000	0.42956	CTC		0.711	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		73	354	1	0	1.07363e-35	1	1.28291e-35	73	354					A	83822022	C	A	83822022	3	1	79	1	0	0	0	0	1	0	0	0	15903	681	24	3	69	3	THAP9	4	83822022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28854	83822022	107332254	5431	15748											
THAP9	79725	broad.mit.edu	37	chr4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatctttaatagtaggaaCtgttatggaaagggacttaa	10	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338																																						ENST00000302236.5																			1	Substitution - Missense(1)	p.N525K(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1573-1575)aaC>aaA		THAP domain containing 9							106	111	109					4																	83838940		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83838940C>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1575C>A	4.37:g.83838940C>A	ENSP00000305533:p.Asn525Lys					LIN54_ENST00000505905.1_Intron	p.N525K	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1626	+		Hepatocellular(203;0.114)	525					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.1575C>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616179	0.14129	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC		0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		106	518	1	0	1.32035e-51	1	1.6395e-51	106	518					A	83838940	C	A	83838940	3	1	79	1	0	0	0	0	1	0	0	0	15903	564	20	3	1593	3	THAP9	4	83838940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16918	83838940	107315336	5432	15749											
LIN54	132660	broad.mit.edu	37	chr4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatacttacttgtttgaCagcctgagctgagacaattg	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	412					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1234-1236)Gtc>Atc		lin-54 homolog (C. elegans)							130	139	136					4																	83861050		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83861050C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1234G>A	4.37:g.83861050C>T	ENSP00000341947:p.Val412Ile					LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I	p.V412I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			6	1611	-		Hepatocellular(203;0.114)	412					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1234G>A	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023735	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.08	6.08	0.98989	.	0.130770	0.56097	D	0.000021	T	0.40743	0.1129	N	0.08118	0	0.80722	D	1	B;B;B	0.29862	0.023;0.012;0.259	B;B;B	0.22386	0.012;0.004;0.039	T	0.25502	-1.0130	9	0.35671	T	0.21	-13.0846	20.6721	0.99693	0.0:1.0:0.0:0.0	.	323;284;412	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	I	412;323;191;191;191;323;412	.	ENSP00000341947:V412I	V	-	1	0	LIN54	84080074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.576000	0.60915	2.894000	0.99253	0.591000	0.81541	GTC		0.343	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		143	552	0	0	0	1	0	143	552					T	83861050	C	T	83861050	3	4	79	1	0	0	0	0	1	0	0	0	8842	478	17	2	1047	2	LIN54	4	83861050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22110	83861050	107293226	5433	15750											
FAM175A	84142	broad.mit.edu	37	chr4	84390190	84390190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgaatcttacctgtgTgtttgtactgctcggctaaa	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.T148T	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	197					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(589-591)acA>acG		family with sequence similarity 175, member A							117	122	120					4																	84390190		2203	4300	6503	SO:0001819	synonymous_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390190T>C	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"Abraxas protein"	611143	"coiled-coil domain containing 98"	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.591A>G	4.37:g.84390190T>C						FAM175A_ENST00000506553.1_Silent_p.T148T|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.T197T	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	699	-			197					A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	c.591A>G	CCDS3605.2																																																																																				0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		130	471	0	0	0	1	0	130	471					C	84390190	T	C	84390190	2	2	79	1	0	0	0	0	0	0	0	1	5518	1683	59	4		4	FAM175A	4	84390190	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	529140	84390190	106764086	5434	15751											
FAM175A	84142	broad.mit.edu	37	chr4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctcggctaaaaccagtgGacatacaggaacctgataca	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	188					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(562-564)tCc>tTc		family with sequence similarity 175, member A							124	131	128					4																	84390218		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390218G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"Abraxas protein"	611143	"coiled-coil domain containing 98"	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.563C>T	4.37:g.84390218G>A	ENSP00000369857:p.Ser188Phe					FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.S188F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	671	-			188					A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.563C>T	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663703	0.67700	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.45668	0.89;0.89	5.38	4.51	0.55191	.	0.050360	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68349	-0.5432	10	0.87932	D	0	-13.6146	16.1534	0.81640	0.0:0.1331:0.8669:0.0	.	188	Q6UWZ7	F175A_HUMAN	F	188;139	ENSP00000369857:S188F;ENSP00000426763:S139F	ENSP00000369857:S188F	S	-	2	0	FAM175A	84609242	1.000000	0.71417	0.056000	0.19401	0.841000	0.47740	7.142000	0.77339	2.518000	0.84900	0.555000	0.69702	TCC		0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		141	524	0	0	0	1	0	141	524					A	84390218	G	A	84390218	3	1	79	1	0	0	0	0	1	0	0	0	5518	1174	41	2	682	2	FAM175A	4	84390218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	84390218	106764058	5435	15752											
FAM175A	84142	broad.mit.edu	37	chr4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atataaggaatgttccagtcGatgagtagagcagctttctg	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	148					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(442-444)Cga>Tga		family with sequence similarity 175, member A							78	82	81					4																	84391390		2203	4300	6503	SO:0001587	stop_gained	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84391390G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"Abraxas protein"	611143	"coiled-coil domain containing 98"	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.442C>T	4.37:g.84391390G>A	ENSP00000369857:p.Arg148*					FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	p.R148*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			5	550	-			148					A5JJ07|Q9H8I1|Q9H9N4	Nonsense_Mutation	SNP	ENST00000321945.7	37	c.442C>T	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	37	6.046630	0.97231	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	2.86	0.33363	.	0.168866	0.49916	D	0.000136	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2989	9.8395	0.40991	0.0788:0.0:0.6061:0.315	.	.	.	.	X	148;99;99	.	ENSP00000369857:R148X	R	-	1	2	FAM175A	84610414	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.988000	0.40697	0.777000	0.33496	0.563000	0.77884	CGA		0.348	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		104	392	0	0	0	1	0	104	392					A	84391390	G	A	84391390	4	1	79	1	0	0	0	0	0	1	0	0	5518	1066	37	1	807	1	FAM175A	4	84391390	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172	84391390	106762886	5436	15753											
WDFY3	23001	broad.mit.edu	37	chr4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaccaggtttcaatctgCtgtaattccgcacctcaatg	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000295888.4	-	65	10540	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAATCTGCTGTAATTCCG	0.517																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(10081-10083)aGc>aAc		WD repeat and FYVE domain containing 3							68	76	73					4																	85600086		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85600086C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10133G>A	4.37:g.85600086C>T	ENSP00000295888:p.Ser3378Asn					WDFY3_ENST00000295888.4_Missense_Mutation_p.S3378N	p.S3361N			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	64	10489	-		Hepatocellular(203;0.114)	3378					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.10082G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548834	0.13312	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	4.81	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.325080	0.40554	N	0.001078	T	0.27169	0.0666	N	0.01048	-1.04	0.37895	D	0.930854	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.10902	T	0.67	.	9.9806	0.41811	0.0:0.8333:0.0:0.1667	.	3378	Q8IZQ1	WDFY3_HUMAN	N	3361;3378	ENSP00000318466:S3361N;ENSP00000295888:S3378N	ENSP00000295888:S3378N	S	-	2	0	WDFY3	85819110	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.453000	0.35167	2.483000	0.83821	0.650000	0.86243	AGC		0.517	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		92	482	0	0	0	1	0	92	482					T	85600086	C	T	85600086	3	4	79	1	0	0	0	0	1	0	0	0	17324	797	28	2	463	2	WDFY3	4	85600086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1208696	85600086	105554190	5437	15754											
WDFY3	23001	broad.mit.edu	37	chr4	85605150	85605150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttctgcgtgtcccattcGttcatctccgacatgcagca	8	14	3	0	rs372610350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000295888.4	-	63	10079	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_ENST00000322366.6_Silent_p.N3207N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3224	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTCCCATTCGTTCATCTCCG	0.478																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9619-9621)aaC>aaT		WD repeat and FYVE domain containing 3		G		0,4406		0,0,2203	142	121	128		9672	-1.6	1	4		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3224/3527	85605150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85605150G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9672C>T	4.37:g.85605150G>A						WDFY3_ENST00000295888.4_Silent_p.N3224N	p.N3207N			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	62	10028	-		Hepatocellular(203;0.114)	3224					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.9621C>T	CCDS3609.1																																																																																				0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		72	279	0	0	0	1	0	72	279					A	85605150	G	A	85605150	2	1	79	1	0	0	0	0	0	0	0	1	17324	1136	40	1		1	WDFY3	4	85605150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5064	85605150	105549126	5438	15755											
WDFY3	23001	broad.mit.edu	37	chr4	85617954	85617954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggataacatctccaagCttggtgccattttgtttaca	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000295888.4	-	57	9026	c.8619G>A	c.(8617-8619)aaG>aaA	p.K2873K	WDFY3_ENST00000322366.6_Silent_p.K2856K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2873	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTCCAAGCTTGGTGCCAT	0.368																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8566-8568)aaG>aaA		WD repeat and FYVE domain containing 3							118	112	114					4																	85617954		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617954C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8619G>A	4.37:g.85617954C>T						WDFY3_ENST00000295888.4_Silent_p.K2873K	p.K2856K			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	56	8975	-		Hepatocellular(203;0.114)	2873			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.8568G>A	CCDS3609.1																																																																																				0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		49	275	0	0	0	1	0	49	275					T	85617954	C	T	85617954	2	4	79	1	0	0	0	0	0	0	0	1	17324	796	28	2		2	WDFY3	4	85617954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	85617954	105536322	5439	15756											
WDFY3	23001	broad.mit.edu	37	chr4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggaaacaatcagagatCggtcttttgctgatagaact	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000295888.4	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1148					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCAGAGATCGGTCTTTTGC	0.368																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3442-3444)cGa>cAa		WD repeat and FYVE domain containing 3							147	150	149					4																	85715716		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715716C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3443G>A	4.37:g.85715716C>T	ENSP00000295888:p.Arg1148Gln					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1148Q	p.R1148Q			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3850	-		Hepatocellular(203;0.114)	1148					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3443G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152751	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.47177	0.85;0.85	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.059441	0.64402	D	0.000002	T	0.38612	0.1047	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.34138	0.176	T	0.39502	-0.9611	10	0.45353	T	0.12	.	12.3958	0.55384	0.0:0.9226:0.0:0.0774	.	1148	Q8IZQ1	WDFY3_HUMAN	Q	1148	ENSP00000318466:R1148Q;ENSP00000295888:R1148Q	ENSP00000295888:R1148Q	R	-	2	0	WDFY3	85934740	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	5.538000	0.67193	2.563000	0.86464	0.650000	0.86243	CGA		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		99	698	0	0	0	1	0	99	698					T	85715716	C	T	85715716	3	4	79	1	0	0	0	0	1	0	0	0	17324	884	31	1	7329	1	WDFY3	4	85715716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97762	85715716	105438560	5440	15757											
WDFY3	23001	broad.mit.edu	37	chr4	85750255	85750255	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctttgaggaaacaagaAagcccagcaaacatttcgac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000295888.4	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000322366.6_Silent_p.L286L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	286					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGAAACAAGAAAGCCCAGCAA	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(856-858)ctT>ctG		WD repeat and FYVE domain containing 3							96	100	99					4																	85750255		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750255A>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.858T>G	4.37:g.85750255A>C						WDFY3_ENST00000295888.4_Silent_p.L286L	p.L286L			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1265	-		Hepatocellular(203;0.114)	286					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.858T>G	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		79	370	0	0	0	1	0	79	370					C	85750255	A	C	85750255	2	2	79	1	0	0	0	0	0	0	0	1	17324	1	1	4		4	WDFY3	4	85750255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34539	85750255	105404021	5441	15758											
WDFY3	23001	broad.mit.edu	37	chr4	85750273	85750273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagcccagcaaacatttcGacaatttctaggggagacag	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358																																						ENST00000322366.6																			1	Substitution - coding silent(1)	p.V280V(1)	large_intestine(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(838-840)gtC>gtT		WD repeat and FYVE domain containing 3							87	92	90					4																	85750273		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750273G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.840C>T	4.37:g.85750273G>A						WDFY3_ENST00000295888.4_Silent_p.V280V	p.V280V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1247	-		Hepatocellular(203;0.114)	280					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.840C>T	CCDS3609.1																																																																																				0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		81	356	0	0	0	1	0	81	356					A	85750273	G	A	85750273	2	1	79	1	0	0	0	0	0	0	0	1	17324	1045	37	1		1	WDFY3	4	85750273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	85750273	105404003	5442	15759											
WDFY3	23001	broad.mit.edu	37	chr4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctagaggtagctcatTctgtgcacctccaactgcct	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000295888.4	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	175					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTAGCTCATTCTGTGCACCT	0.453																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(523-525)Aat>Cat		WD repeat and FYVE domain containing 3							101	86	91					4																	85758135		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85758135T>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.523A>C	4.37:g.85758135T>G	ENSP00000295888:p.Asn175His					WDFY3_ENST00000295888.4_Missense_Mutation_p.N175H	p.N175H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	7	930	-		Hepatocellular(203;0.114)	175					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.523A>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249306	0.59103	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	.	0.196716	0.53938	D	0.000047	T	0.43255	0.1239	N	0.08118	0	0.50467	D	0.999871	P;P	0.40107	0.703;0.571	B;B	0.35607	0.206;0.206	T	0.51942	-0.8641	10	0.51188	T	0.08	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	175;175	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	175	ENSP00000318466:N175H;ENSP00000295888:N175H	ENSP00000295888:N175H	N	-	1	0	WDFY3	85977159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.190000	0.69967	0.374000	0.22700	AAT		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		48	223	0	0	0	1	0	48	223					G	85758135	T	G	85758135	3	3	79	1	0	0	0	0	1	0	0	0	17324	1783	62	4	10348	4	WDFY3	4	85758135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7862	85758135	105396141	5443	15760											
ARHGAP24	83478	broad.mit.edu	37	chr4	86491742	86491742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccccaacaaggccaaggGcggcagaatgccatcaagtg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	16					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGCCAAGGGCGGCAGAATG	0.483																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(46-48)ggG>ggA		Rho GTPase activating protein 24							88	75	79					4																	86491742		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86491742G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.48G>A	4.37:g.86491742G>A						ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	2	514	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	16					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.48G>A	CCDS34025.1																																																																																				0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		48	204	0	0	0	1	0	48	204					A	86491742	G	A	86491742	2	1	79	1	0	0	0	0	0	0	0	1	873	1190	42	2		2	ARHGAP24	4	86491742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733607	86491742	104662534	5444	15761											
ARHGAP24	83478	broad.mit.edu	37	chr4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggctccgatgttggTggagcagtgcgtggacttta	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	156	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCGATGTTGGTGGAGCAGTGC	0.473																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(466-468)gTg>gCg		Rho GTPase activating protein 24							87	85	86					4																	86863294		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86863294T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.467T>C	4.37:g.86863294T>C	ENSP00000378611:p.Val156Ala					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	5	933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	156			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.467T>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	33	5.205174	0.95033	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.52295	1.77;1.77;0.67;1.77;1.77;1.77;1.77	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.999	D	0.84349	0.0531	10	0.72032	D	0.01	.	16.4731	0.84124	0.0:0.0:0.0:1.0	.	61;63;156;156	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	A	156;156;61;61;30;71;63	ENSP00000378611:V156A;ENSP00000423206:V156A;ENSP00000426105:V61A;ENSP00000378610:V61A;ENSP00000424256:V30A;ENSP00000425589:V71A;ENSP00000264343:V63A	ENSP00000264343:V63A	V	+	2	0	ARHGAP24	87082318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.293000	0.77203	0.528000	0.53228	GTG		0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		48	218	0	0	0	1	0	48	218					C	86863294	T	C	86863294	3	2	79	1	0	0	0	0	1	0	0	0	873	1696	59	4	597	4	ARHGAP24	4	86863294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371552	86863294	104290982	5445	15762											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggaaccccacaaatgttCgaaacatgagctggctgcca	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*|ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.R406*(1)|p.R499*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAAATGTTCGAAACATGAG	0.507																																						ENST00000395184.1																			2	Substitution - Nonsense(2)	p.R406*(1)|p.R499*(1)	endometrium(2)	breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1495-1497)Cga>Tga		Rho GTPase activating protein 24							119	111	113					4																	86916302		2203	4300	6503	SO:0001587	stop_gained	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916302C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1495C>T	4.37:g.86916302C>T	ENSP00000378611:p.Arg499*					ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	p.R499*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1961	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	499					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Nonsense_Mutation	SNP	ENST00000395184.1	37	c.1495C>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547352	0.98352	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	.	.	.	5.87	4.01	0.46588	.	0.171377	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6745	0.68969	0.2643:0.7357:0.0:0.0	.	.	.	.	X	499;404;414;406	.	ENSP00000264343:R406X	R	+	1	2	ARHGAP24	87135326	0.634000	0.27190	0.237000	0.24090	0.097000	0.18754	1.293000	0.33353	1.443000	0.47586	0.591000	0.81541	CGA		0.507	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		86	356	0	0	0	1	0	86	356					T	86916302	C	T	86916302	4	4	79	1	0	0	0	0	0	1	0	0	873	876	31	1	1641	1	ARHGAP24	4	86916302	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53008	86916302	104237974	5446	15763											
PTPN13	5783	broad.mit.edu	37	chr4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatctatgggatttctgtCcatcaaagatacacaagatg	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000411767.2	+	7	797	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	245					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATTTCTGTCCATCAAAGAT	0.368																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(733-735)tCc>tTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							51	47	49					4																	87622493		1821	4080	5901	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622493C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.734C>T	4.37:g.87622493C>T	ENSP00000407249:p.Ser245Phe					PTPN13_ENST00000411767.2_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F	p.S245F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1214	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	245					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.734C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889809	0.72524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.55	5.55	0.83447	.	0.150735	0.31010	N	0.008434	T	0.55210	0.1906	L	0.57536	1.79	0.38638	D	0.951532	D;D;D;D	0.64830	0.994;0.991;0.984;0.991	P;P;P;P	0.59643	0.832;0.861;0.73;0.861	T	0.58132	-0.7690	10	0.59425	D	0.04	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	245;245;245;245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	245;245;245;245;245;213	ENSP00000408368:S245F;ENSP00000394794:S245F;ENSP00000322675:S245F;ENSP00000407249:S245F;ENSP00000426626:S245F	ENSP00000322675:S245F	S	+	2	0	PTPN13	87841517	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.359000	0.66074	2.617000	0.88574	0.557000	0.71058	TCC		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			15	89	0	0	0	1	0	15	89					T	87622493	C	T	87622493	3	4	79	1	0	0	0	0	1	0	0	0	12830	855	30	2	756	2	PTPN13	4	87622493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706191	87622493	103531783	5447	15764											
PTPN13	5783	broad.mit.edu	37	chr4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttcgaagatacaaaactTatcatggtgatgtctttagt	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000411767.2	+	8	1282	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	407					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATACAAAACTTATCATGGTGA	0.323																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1219-1221)Tat>Cat		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81	75	77					4																	87637706		1811	4084	5895	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87637706T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1219T>C	4.37:g.87637706T>C	ENSP00000407249:p.Tyr407His					PTPN13_ENST00000411767.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H	p.Y407H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	8	1699	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	407					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1219T>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429610	0.43122	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.59364	0.27;0.31;0.42;0.28;0.31	5.27	4.09	0.47781	.	0.165491	0.28510	N	0.015093	T	0.63581	0.2523	M	0.67953	2.075	0.44042	D	0.996777	P;P;P;P	0.49961	0.828;0.915;0.93;0.915	P;P;P;P	0.53360	0.632;0.724;0.665;0.724	T	0.59794	-0.7387	10	0.22109	T	0.4	.	11.166	0.48543	0.0:0.0728:0.0:0.9272	.	407;407;407;407	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	407;407;407;407;407;375	ENSP00000408368:Y407H;ENSP00000394794:Y407H;ENSP00000322675:Y407H;ENSP00000407249:Y407H;ENSP00000426626:Y407H	ENSP00000322675:Y407H	Y	+	1	0	PTPN13	87856730	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.344000	0.65981	0.961000	0.38030	-0.380000	0.06706	TAT		0.323	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	39	0	0	0	1	0	6	39					C	87637706	T	C	87637706	3	2	79	1	0	0	0	0	1	0	0	0	12830	1754	61	4	1245	4	PTPN13	4	87637706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15213	87637706	103516570	5448	15765											
PTPN13	5783	broad.mit.edu	37	chr4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctttggcaggagtgacaAaacttaataagtaagaacat	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000411767.2	+	18	3121	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1020					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGAGTGACAAAACTTAATAA	0.348																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(3058-3060)Aaa>Caa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							43	42	42					4																	87672030		1834	4078	5912	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87672030A>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3058A>C	4.37:g.87672030A>C	ENSP00000407249:p.Lys1020Gln					PTPN13_ENST00000411767.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q	p.K1020Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3538	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1020					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3058A>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523597	0.27299	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52526	0.66;0.71;0.66;0.71	6.16	4.97	0.65823	.	0.112377	0.39083	N	0.001464	T	0.40222	0.1108	L	0.41236	1.265	0.35504	D	0.800014	B;B;B	0.24618	0.063;0.065;0.107	B;B;B	0.22386	0.039;0.015;0.034	T	0.44802	-0.9304	10	0.37606	T	0.19	.	13.8654	0.63585	0.8731:0.1269:0.0:0.0	.	1020;1020;1020	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	Q	1020;1020;1020;1020;988	ENSP00000408368:K1020Q;ENSP00000394794:K1020Q;ENSP00000407249:K1020Q;ENSP00000426626:K1020Q	ENSP00000349909:K988Q	K	+	1	0	PTPN13	87891054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.163000	0.64948	1.115000	0.41800	0.528000	0.53228	AAA		0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			17	90	0	0	0	1	0	17	90					C	87672030	A	C	87672030	3	2	79	1	0	0	0	0	1	0	0	0	12830	15	1	4	3124	4	PTPN13	4	87672030	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34324	87672030	103482246	5449	15766											
SLC10A6	345274	broad.mit.edu	37	chr4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcactcaccttgagaAtgattttggattgttttggc	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	193					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCTTGAGAATGATTTTGGA	0.473																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(577-579)aTt>aGt		solute carrier family 10 (sodium/bile acid cotransporter), member 6							128	98	108					4																	87752952		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87752952A>C	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.578T>G	4.37:g.87752952A>C	ENSP00000273905:p.Ile193Ser					SLC10A6_ENST00000505535.1_5'UTR	p.I193S	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	3	725	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	193					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.578T>G	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406940	0.62399	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	T	0.35799	0.0944	M	0.75264	2.295	0.36869	D	0.888834	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.87932	D	0	-18.9054	11.2388	0.48958	1.0:0.0:0.0:0.0	.	193	Q3KNW5	SOAT_HUMAN	S	193	ENSP00000273905:I193S	ENSP00000273905:I193S	I	-	2	0	SLC10A6	87971976	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	6.311000	0.72835	1.958000	0.56883	0.533000	0.62120	ATT		0.473	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		21	101	0	0	0	1	0	21	101					C	87752952	A	C	87752952	3	2	79	1	0	0	0	0	1	0	0	0	14428	101	4	4	571	4	SLC10A6	4	87752952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80922	87752952	103401324	5450	15767											
C4orf36	132989	broad.mit.edu	37	chr4	87809352	87809352	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accaccaaatgaaatttcttCcaagaaaggcaacttgatat	5	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87809352C>A	ENST00000473559.1	-	6	805	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	48										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GAAATTTCTTCCAAGAAAGGC	0.418																																						ENST00000473559.1																			0				breast(1)|kidney(1)|lung(1)|prostate(1)	4						c.(142-144)Gaa>Taa		chromosome 4 open reading frame 36							96	94	94					4																	87809352		2203	4300	6503	SO:0001587	stop_gained	132989							g.chr4:87809352C>A	BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.142G>T	4.37:g.87809352C>A	ENSP00000420949:p.Glu48*					C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR	p.E48*			Q96KX1	CD036_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00141)	6	805	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	48						Nonsense_Mutation	SNP	ENST00000473559.1	37	c.142G>T	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.514727	0.98332	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	5.13	3.39	0.38822	.	0.351640	0.24592	N	0.037207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.2562	6.992	0.24761	0.0:0.7333:0.1743:0.0925	.	.	.	.	X	48	.	ENSP00000295898:E48X	E	-	1	0	C4orf36	88028376	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.233000	0.32648	0.736000	0.32559	-0.274000	0.10170	GAA		0.418	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645		10	425	1	0	0.000978159	1	0.000988919	10	425					A	87809352	C	A	87809352	4	1	79	1	0	0	0	0	0	1	0	0	2273	864	30	3	219	3	C4orf36	4	87809352	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56400	87809352	103344924	5451	15768											
AFF1	4299	broad.mit.edu	37	chr4	87968170	87968170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaagctgcggcccaccGgacagccagcacctgaccca	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P161P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	154					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCGGCCCACCGGACAGCCAGC	0.557																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(460-462)ccG>ccA		AF4/FMR2 family, member 1							77	76	77					4																	87968170		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968170G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.462G>A	4.37:g.87968170G>A						AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P161P	p.P154P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	882	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	154					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.462G>A	CCDS3616.1																																																																																				0.557	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		35	385	0	0	0	1	0	35	385					A	87968170	G	A	87968170	2	1	79	1	0	0	0	0	0	0	0	1	356	1103	39	1		1	AFF1	4	87968170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158818	87968170	103186106	5452	15769											
AFF1	4299	broad.mit.edu	37	chr4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttatttttagcctgagcCtccaacaacaaacaaatggc	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000544085.1_Missense_Mutation_p.P145H|AFF1_ENST00000395146.4_Missense_Mutation_p.P514H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	507					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TAGCCTGAGCCTCCAACAACA	0.493																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1519-1521)cCt>cAt		AF4/FMR2 family, member 1							13	18	17					4																	88035526		2087	4141	6228	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035526C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1520C>A	4.37:g.88035526C>A	ENSP00000305689:p.Pro507His					AFF1_ENST00000544085.1_Missense_Mutation_p.P145H|AFF1_ENST00000395146.4_Missense_Mutation_p.P514H	p.P507H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	1940	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	507					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1520C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278086	0.40294	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	.	0.146689	0.48767	D	0.000163	D	0.86451	0.5936	M	0.83774	2.66	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.87195	0.2237	10	0.87932	D	0	-20.0312	20.2566	0.98424	0.0:1.0:0.0:0.0	.	514;507;507	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	H	514;166;507;145	ENSP00000378578:P514H;ENSP00000305689:P507H;ENSP00000440843:P145H	ENSP00000305689:P507H	P	+	2	0	AFF1	88254550	0.977000	0.34250	1.000000	0.80357	0.439000	0.31926	2.238000	0.43070	2.793000	0.96121	0.561000	0.74099	CCT		0.493	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		19	135	1	0	5.03518e-11	1	5.3609e-11	19	135					A	88035526	C	A	88035526	3	1	79	1	0	0	0	0	1	0	0	0	356	681	24	3	1604	3	AFF1	4	88035526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	88035526	103118750	5453	15770											
AFF1	4299	broad.mit.edu	37	chr4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggcagctggacaactggCtgaccaaagtcagccagcca	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	519					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W525fs*19(2)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGACAACTGGCTGACCAAAGT	0.527																																						ENST00000307808.6																			2	Deletion - Frameshift(2)	p.W525fs*19(2)	liver(2)	breast(1)|large_intestine(2)	3						c.(1555-1557)Ctg>Atg		AF4/FMR2 family, member 1							9	15	13					4																	88035561		2118	4194	6312	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035561C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1555C>A	4.37:g.88035561C>A	ENSP00000305689:p.Leu519Met					AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	p.L519M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	1975	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	519					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1555C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568193	0.45798	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.74632	-0.86;-0.86;-0.86	5.89	2.85	0.33270	.	0.304358	0.28011	N	0.016958	T	0.78886	0.4354	M	0.75777	2.31	0.37332	D	0.910021	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58077	0.832;0.832;0.832	T	0.76833	-0.2813	10	0.44086	T	0.13	-9.4591	5.0038	0.14277	0.1399:0.6017:0.0:0.2585	.	526;519;519	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	526;178;519;157	ENSP00000378578:L526M;ENSP00000305689:L519M;ENSP00000440843:L157M	ENSP00000305689:L519M	L	+	1	2	AFF1	88254585	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.233000	0.21120	0.561000	0.74099	CTG		0.527	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		20	145	1	0	7.45023e-12	1	7.97024e-12	20	145					A	88035561	C	A	88035561	3	1	79	1	0	0	0	0	1	0	0	0	356	796	28	3	1639	3	AFF1	4	88035561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	88035561	103118715	5454	15771											
AFF1	4299	broad.mit.edu	37	chr4	88036157	88036157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaccccacagtggcagCggcagcaggactagtggctg	15	14	0	0	rs367686961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	717					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGTGGCAGCGGCAGCAGGA	0.622																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2149-2151)agC>agT		AF4/FMR2 family, member 1		T	,	0,4406		0,0,2203	33	38	36		2172,2151	-3.2	0	4		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	724/1219,717/1211	88036157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036157C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2151C>T	4.37:g.88036157C>T						AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	p.S717S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2571	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	717					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.2151C>T	CCDS3616.1																																																																																				0.622	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		47	205	0	0	0	1	0	47	205					T	88036157	C	T	88036157	2	4	79	1	0	0	0	0	0	0	0	1	356	767	27	1		1	AFF1	4	88036157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596	88036157	103118119	5455	15772											
AFF1	4299	broad.mit.edu	37	chr4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagaagccagccaagCctgcacttaagaggtcaagg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000544085.1_Missense_Mutation_p.P518S|AFF1_ENST00000395146.4_Missense_Mutation_p.P887S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	880					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAGCCAAGCCTGCACTTAA	0.587																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2638-2640)Cct>Tct		AF4/FMR2 family, member 1							73	72	72					4																	88047336		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047336C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2638C>T	4.37:g.88047336C>T	ENSP00000305689:p.Pro880Ser					AFF1_ENST00000544085.1_Missense_Mutation_p.P518S|AFF1_ENST00000395146.4_Missense_Mutation_p.P887S	p.P880S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	3058	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	880					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2638C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732993	0.15507	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.68624	-0.34;-0.34;-0.34	5.65	0.25	0.15535	.	0.463760	0.20292	N	0.095213	T	0.51669	0.1688	M	0.65975	2.015	0.31347	N	0.682981	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15052	0.012;0.012;0.012	T	0.37911	-0.9685	10	0.09084	T	0.74	-1.5827	2.1445	0.03783	0.1853:0.4709:0.0986:0.2452	.	887;880;880	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	887;880;518	ENSP00000378578:P887S;ENSP00000305689:P880S;ENSP00000440843:P518S	ENSP00000305689:P880S	P	+	1	0	AFF1	88266360	0.575000	0.26692	0.996000	0.52242	0.291000	0.27294	0.436000	0.21526	0.061000	0.16311	-0.142000	0.14014	CCT		0.587	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		78	399	0	0	0	1	0	78	399					T	88047336	C	T	88047336	3	4	79	1	0	0	0	0	1	0	0	0	356	739	26	2	2730	2	AFF1	4	88047336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11179	88047336	103106940	5456	15773											
HSD17B13	345275	broad.mit.edu	37	chr4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaaagatattgatatacGatggaacaaaaatcattttc	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313																																						ENST00000328546.4																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(781-783)tCg>tTg		hydroxysteroid (17-beta) dehydrogenase 13							101	104	103					4																	88231425		2202	4300	6502	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88231425G>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.782C>T	4.37:g.88231425G>A	ENSP00000333300:p.Ser261Leu					HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	p.S261L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	6	846	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	261					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.782C>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800683	0.31869	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88741	-2.42;-2.42	5.08	4.23	0.50019	.	0.250955	0.27600	N	0.018643	D	0.89287	0.6672	M	0.83223	2.63	0.35195	D	0.77378	B;B	0.24317	0.101;0.097	B;B	0.26094	0.045;0.066	D	0.88930	0.3372	10	0.28530	T	0.3	.	14.6226	0.68597	0.0:0.1467:0.8533:0.0	.	225;261	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	L	225;261	ENSP00000305438:S225L;ENSP00000333300:S261L	ENSP00000305438:S225L	S	-	2	0	HSD17B13	88450449	0.996000	0.38824	0.717000	0.30585	0.447000	0.32167	2.874000	0.48483	1.126000	0.42016	0.650000	0.86243	TCG		0.313	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		70	270	0	0	0	1	0	70	270					A	88231425	G	A	88231425	3	1	79	1	0	0	0	0	1	0	0	0	7412	1059	37	1	128	1	HSD17B13	4	88231425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184089	88231425	102922851	5457	15774											
HSD17B11	51170	broad.mit.edu	37	chr4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaataaaaatcatcttctGctcagtcagaatcccatgca	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	254					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(760-762)Cag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							93	94	93					4																	88261694		2203	4300	6503	SO:0001587	stop_gained	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88261694G>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.760C>T	4.37:g.88261694G>A	ENSP00000351035:p.Gln254*					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA	p.Q254*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	6	1075	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	254					Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	37	c.760C>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483056	0.63962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.64	-0.742	0.11108	.	0.674135	0.14663	N	0.305856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.9414	0.47275	0.0:0.1252:0.3101:0.5647	.	.	.	.	X	254;210	.	ENSP00000351035:Q254X	Q	-	1	0	HSD17B11	88480718	0.021000	0.18746	0.613000	0.29037	0.758000	0.43043	-0.102000	0.10956	-0.556000	0.06134	-0.169000	0.13324	CAG		0.363	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		60	246	0	0	0	1	0	60	246					A	88261694	G	A	88261694	4	1	79	1	0	0	0	0	0	1	0	0	7410	1328	46	2	150	2	HSD17B11	4	88261694	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30269	88261694	102892582	5458	15775											
HSD17B11	51170	broad.mit.edu	37	chr4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaacagcagcaaacttgCttgaactgaaaatagagagt	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	188					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(562-564)aGc>aAc		hydroxysteroid (17-beta) dehydrogenase 11							66	62	64					4																	88278563		2202	4300	6502	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88278563C>T	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.563G>A	4.37:g.88278563C>T	ENSP00000351035:p.Ser188Asn					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N	p.S188N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	5	878	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	188					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.563G>A	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795814	0.70452	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.90676	-2.71;0.08	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.056065	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98068	4.14	0.40500	D	0.980637	D	0.67145	0.996	D	0.71656	0.974	D	0.98446	1.0589	10	0.87932	D	0	.	14.1698	0.65503	0.0:0.8499:0.1501:0.0	.	188	Q8NBQ5	DHB11_HUMAN	N	188;144	ENSP00000351035:S188N;ENSP00000423775:S144N	ENSP00000351035:S188N	S	-	2	0	HSD17B11	88497587	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.715000	0.47210	2.653000	0.90120	0.561000	0.74099	AGC		0.388	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		22	101	0	0	0	1	0	22	101					T	88278563	C	T	88278563	3	4	79	1	0	0	0	0	1	0	0	0	7410	797	28	2	351	2	HSD17B11	4	88278563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16869	88278563	102875713	5459	15776											
NUDT9	53343	broad.mit.edu	37	chr4	88359522	88359522	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagattgaaaatggaagaccGaggtaggtactgggagcaga	16	4	0	4	rs115855591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000302174.4	+	3	765	c.441G>A	c.(439-441)ccG>ccA	p.P147P	NUDT9_ENST00000473942.1_Silent_p.P97P	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	147					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373																																						ENST00000473942.1																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(289-291)ccG>ccA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							98	94	95					4																	88359522		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88359522G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.441G>A	4.37:g.88359522G>A						NUDT9_ENST00000302174.4_Silent_p.P147P	p.P97P	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	3	413	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	147					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.291G>A	CCDS3620.1																																																																																				0.373	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			60	248	0	0	0	1	0	60	248					A	88359522	G	A	88359522	2	1	79	1	0	0	0	0	0	0	0	1	10788	1045	37	1		1	NUDT9	4	88359522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80959	88359522	102794754	5460	15777											
SPARCL1	8404	broad.mit.edu	37	chr4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcaccagagatgctcGcagaggagcaagttcagaat	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000282470.6	-	10	2319	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	617					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGATGCTCGCAGAGGAGCA	0.478																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1849-1851)Cga>Tga		SPARC-like 1 (hevin)							110	102	105					4																	88400699		2203	4300	6503	SO:0001587	stop_gained	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88400699G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1849C>T	4.37:g.88400699G>A	ENSP00000282470:p.Arg617*					SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.R617*	p.R617*	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	11	2420	-			617					B4E2Z0|E7ESU2|Q14800	Nonsense_Mutation	SNP	ENST00000282470.6	37	c.1849C>T	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	42	9.575148	0.99208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	5.11	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0128	12.4782	0.55827	0.0:0.0:0.5959:0.4041	.	.	.	.	X	617;617;492;492	.	ENSP00000282470:R617X	R	-	1	2	SPARCL1	88619723	0.809000	0.29036	1.000000	0.80357	0.973000	0.67179	1.043000	0.30316	1.417000	0.47077	0.655000	0.94253	CGA		0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			78	326	0	0	0	1	0	78	326					A	88400699	G	A	88400699	4	1	79	1	0	0	0	0	0	1	0	0	15048	1095	38	1	153	1	SPARCL1	4	88400699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41177	88400699	102753577	5461	15778											
SPARCL1	8404	broad.mit.edu	37	chr4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctccagaaaggcctggCttgggatgaagtagtcatca	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000282470.6	-	4	1564	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	365					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGGCCTGGCTTGGGATGAA	0.478																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1093-1095)aGc>aAc		SPARC-like 1 (hevin)							96	90	92					4																	88414858		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414858C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1094G>A	4.37:g.88414858C>T	ENSP00000282470:p.Ser365Asn					SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000282470.6_Missense_Mutation_p.S365N	p.S365N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1665	-			365					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1094G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801181	0.70567	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	.	0.439796	0.25335	N	0.031403	D	0.91925	0.7443	L	0.36672	1.1	0.25029	N	0.991288	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.84802	0.0785	10	0.62326	D	0.03	-11.5295	12.6178	0.56586	0.0:1.0:0.0:0.0	.	365;365	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	365;365;240;240	ENSP00000282470:S365N;ENSP00000414856:S365N;ENSP00000422903:S240N	ENSP00000282470:S365N	S	-	2	0	SPARCL1	88633882	0.993000	0.37304	1.000000	0.80357	0.727000	0.41649	0.960000	0.29253	2.689000	0.91719	0.655000	0.94253	AGC		0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			72	272	0	0	0	1	0	72	272					T	88414858	C	T	88414858	3	4	79	1	0	0	0	0	1	0	0	0	15048	797	28	2	932	2	SPARCL1	4	88414858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	88414858	102739418	5462	15779											
SPARCL1	8404	broad.mit.edu	37	chr4	88415481	88415481	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggttttcctctctctttgtGatactttcttgttggttaga	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000282470.6	-	4	941	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000418378.1_Silent_p.I157I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	157					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTCTCTTTGTGATACTTTCTT	0.403																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(469-471)atC>atA		SPARC-like 1 (hevin)							164	159	161					4																	88415481		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415481G>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.471C>A	4.37:g.88415481G>T						SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000282470.6_Silent_p.I157I	p.I157I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1042	-			157					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.471C>A	CCDS3622.1																																																																																				0.403	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			136	643	1	0	7.8029e-68	1	9.88841e-68	136	643					T	88415481	G	T	88415481	2	4	79	1	0	0	0	0	0	0	0	1	15048	1280	45	3		3	SPARCL1	4	88415481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	88415481	102738795	5463	15780											
SPARCL1	8404	broad.mit.edu	37	chr4	88415552	88415553	+	Frame_Shift_Ins	INS	-	-	T													aaatcagtgttctctgagagINSttttttctcctgaggctcac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415552_88415553insT	ENST00000282470.6	-	4	869_870	c.399_400insA	c.(397-402)aaactcfs	p.L134fs	SPARCL1_ENST00000503414.1_Frame_Shift_Ins_p.L9fs|SPARCL1_ENST00000418378.1_Frame_Shift_Ins_p.L134fs	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	134					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCTCTGAGAGTTTTTTCTCCT	0.401																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(397-402)aatctcfs		SPARC-like 1 (hevin)																																				SO:0001589	frameshift_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415552_88415553insT	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.400dupA	4.37:g.88415558_88415558dupT	ENSP00000282470:p.Leu134fs					SPARCL1_ENST00000282470.6_Frame_Shift_Ins_p.NL133fs|SPARCL1_ENST00000503414.1_Frame_Shift_Ins_p.NL8fs	p.NL133fs	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	970_971	-			133					B4E2Z0|E7ESU2|Q14800	Frame_Shift_Ins	INS	ENST00000282470.6	37	c.399_400insA	CCDS3622.1																																																																																				0.401	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			39	157						39	157	---	---	---	---	T	88415553	-	T	88415552	7	5	79	1	0	1	1	0	0	0	0	0	15048	1029	36	0	1626	0	SPARCL1	4	88415552	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	71	88415552	102738724	5464	15781											
IBSP	3381	broad.mit.edu	37	chr4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgagaataccacactttCtgctacaacactgggctatg	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	108	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(322-324)tCt>tAt		integrin-binding sialoprotein							125	126	126					4																	88731834		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88731834C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.323C>A	4.37:g.88731834C>A	ENSP00000226284:p.Ser108Tyr						p.S108Y	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	6	390	+		Hepatocellular(203;0.114)	108			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.323C>A	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000029559	ENST00000226284	T	0.16073	2.37	5.23	4.36	0.52297	.	0.450652	0.21382	N	0.075451	T	0.38427	0.1040	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.19063	-1.0317	10	0.72032	D	0.01	.	11.8883	0.52615	0.0:0.8238:0.1762:0.0	.	108	P21815	SIAL_HUMAN	Y	108	ENSP00000226284:S108Y	ENSP00000226284:S108Y	S	+	2	0	IBSP	88950858	0.124000	0.22315	0.061000	0.19648	0.132000	0.20833	1.984000	0.40658	1.274000	0.44362	0.591000	0.81541	TCT		0.428	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			104	472	1	0	3.676e-42	1	4.47322e-42	104	472					A	88731834	C	A	88731834	3	1	79	1	0	0	0	0	1	0	0	0	7505	913	32	3	341	3	IBSP	4	88731834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316282	88731834	102422442	5465	15782											
IBSP	3381	broad.mit.edu	37	chr4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggctggggatataacaaAtaaagctacaaaagagaagg	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	141	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(421-423)aAt>aTt		integrin-binding sialoprotein							56	59	58					4																	88732530		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732530A>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.422A>T	4.37:g.88732530A>T	ENSP00000226284:p.Asn141Ile						p.N141I	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	489	+		Hepatocellular(203;0.114)	141			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.422A>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174606	0.21704	.	.	ENSG00000029559	ENST00000226284	T	0.11604	2.76	4.82	-0.215	0.13157	.	1.549700	0.03559	N	0.226805	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	P	0.40731	0.728	B	0.42959	0.403	T	0.34601	-0.9822	10	0.45353	T	0.12	.	7.9182	0.29831	0.6572:0.0:0.3428:0.0	.	141	P21815	SIAL_HUMAN	I	141	ENSP00000226284:N141I	ENSP00000226284:N141I	N	+	2	0	IBSP	88951554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	0.017000	0.15025	-0.346000	0.07831	AAT		0.378	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			45	192	0	0	0	1	0	45	192					T	88732530	A	T	88732530	3	4	79	1	0	0	0	0	1	0	0	0	7505	101	4	5	444	5	IBSP	4	88732530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	696	88732530	102421746	5466	15783											
PKD2	5311	broad.mit.edu	37	chr4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatagggctccctttgggCcccgaaatggaaccgcgtaa	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCCTTTGGGCCCCGAAATGG	0.453																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1078-1080)Ccc>Tcc		polycystic kidney disease 2 (autosomal dominant)							89	91	90					4																	88959637		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88959637C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1078C>T	4.37:g.88959637C>T	ENSP00000237596:p.Pro360Ser						p.P360S	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	4	1144	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	360					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1078C>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669219	0.14776	.	.	ENSG00000118762	ENST00000237596	T	0.69435	-0.4	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.163462	0.56097	D	0.000032	T	0.65439	0.2691	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.36885	0.235	T	0.58880	-0.7558	10	0.30854	T	0.27	-8.2264	19.9598	0.97242	0.0:1.0:0.0:0.0	.	360	Q13563	PKD2_HUMAN	S	360	ENSP00000237596:P360S	ENSP00000237596:P360S	P	+	1	0	PKD2	89178661	0.929000	0.31497	0.277000	0.24703	0.970000	0.65996	5.836000	0.69375	2.716000	0.92895	0.655000	0.94253	CCC		0.453	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		72	331	0	0	0	1	0	72	331					T	88959637	C	T	88959637	3	4	79	1	0	0	0	0	1	0	0	0	12008	739	26	2	1092	2	PKD2	4	88959637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227107	88959637	102194639	5467	15784											
PKD2	5311	broad.mit.edu	37	chr4	88968016	88968016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattgtctggatgttgtgatCgttgtggtaggtttgagaac	14	3	1	2	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	ENST00000237596.2	+	6	1608	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGTTGTGATCGTTGTGGTAG	0.363																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1540-1542)atC>atT		polycystic kidney disease 2 (autosomal dominant)		C		0,4406		0,0,2203	125	123	123		1542	0.2	0.5	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD2	NM_000297.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		514/969	88968016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88968016C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1542C>T	4.37:g.88968016C>T						PKD2_ENST00000508588.1_Intron	p.I514I	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1608	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	514					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	c.1542C>T	CCDS3627.1																																																																																				0.363	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		85	391	0	0	0	1	0	85	391					T	88968016	C	T	88968016	2	4	79	1	0	0	0	0	0	0	0	1	12008	874	31	1		1	PKD2	4	88968016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8379	88968016	102186260	5468	15785											
ABCG2	9429	broad.mit.edu	37	chr4	89015812	89015812	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcattatgctgcaaagcCtataacacaagtgggagcag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89015812C>T	ENST00000237612.3	-	15	2283		c.e15-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTGCAAAGCCTATAACACAA	0.373																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e15-1		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						95	86	89					4																	89015812		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89015812C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1738-1G>A	4.37:g.89015812C>T						ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	15	2283	-		Hepatocellular(203;0.114)						A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	37		CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011891	0.75046	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89234836	1.000000	0.71417	0.997000	0.53966	0.832000	0.47134	3.577000	0.53885	2.724000	0.93272	0.563000	0.77884	.		0.373	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Intron	10	276	0	0	0	1	0	10	276					T	89015812	C	T	89015812	5	4	79	1	0	0	0	0	0	0	1	0	69	695	24	2	238	2	ABCG2	4	89015812	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47796	89015812	102138464	5469	15786											
ABCG2	9429	broad.mit.edu	37	chr4	89016716	89016716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtactgaagccatgacaGccaagatgcaatggttgtga	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	565	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AGCCATGACAGCCAAGATGCA	0.408																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1693-1695)Ctg>Ttg		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						148	118	128					4																	89016716		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89016716G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1693C>T	4.37:g.89016716G>A						ABCG2_ENST00000515655.1_Silent_p.G561G	p.L565L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	14	2238	-		Hepatocellular(203;0.114)	565			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.1693C>T	CCDS3628.1																																																																																				0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		37	227	0	0	0	1	0	37	227					A	89016716	G	A	89016716	2	1	79	1	0	0	0	0	0	0	0	1	69	962	34	2		2	ABCG2	4	89016716	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	89016716	102137560	5470	15787											
ABCG2	9429	broad.mit.edu	37	chr4	89020601	89020601	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccgctgatgtattcatgtCtatagaacaaaaatacgtat	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTATTCATGTCTATAGAACAA	0.383																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e12-1		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98	97	98					4																	89020601		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89020601C>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1368-1G>T	4.37:g.89020601C>A						ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	12	1913	-		Hepatocellular(203;0.114)						A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	37		CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126719	0.77549	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89239625	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	7.467000	0.80930	2.421000	0.82119	0.467000	0.42956	.		0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Intron	52	246	1	0	2.23044e-30	1	2.6157e-30	52	246					A	89020601	C	A	89020601	5	1	79	1	0	0	0	0	0	0	1	0	69	927	32	3	620	3	ABCG2	4	89020601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3885	89020601	102133675	5471	15788											
ABCG2	9429	broad.mit.edu	37	chr4	89034473	89034473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagctatagaggcctgGggattacccagcaagttttt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	392	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAGAGGCCTGGGGATTACCCA	0.423																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1174-1176)ccC>ccT		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						112	113	112					4																	89034473		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89034473G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1176C>T	4.37:g.89034473G>A						ABCG2_ENST00000515655.1_Silent_p.P392P	p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	9	1721	-		Hepatocellular(203;0.114)	392			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.1176C>T	CCDS3628.1																																																																																				0.423	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		112	455	0	0	0	1	0	112	455					A	89034473	G	A	89034473	2	1	79	1	0	0	0	0	0	0	0	1	69	1219	43	2		2	ABCG2	4	89034473	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13872	89034473	102119803	5472	15789											
PPM1K	152926	broad.mit.edu	37	chr4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccacttctgaccaaaGtaattaaggcagctgttgac	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	8					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(22-24)aCt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							48	46	47					4																	89199713		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199713G>T	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.23C>A	4.37:g.89199713G>T	ENSP00000477341:p.Thr8Asn					PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_Missense_Mutation_p.T8N	p.T8N	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	412	-		Hepatocellular(203;0.114)	8					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.23C>A	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416855	0.25552	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.45668	1.95;0.89;0.89	3.78	3.78	0.43462	.	0.574252	0.18711	N	0.133296	T	0.26702	0.0653	N	0.19112	0.55	0.28371	N	0.92	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.013;0.004;0.001	T	0.07770	-1.0755	10	0.25751	T	0.34	-19.8191	11.2292	0.48901	0.0:0.0:0.8164:0.1836	.	8;8;8	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	N	8	ENSP00000295908:T8N;ENSP00000424155:T8N;ENSP00000324761:T8N	ENSP00000295908:T8N	T	-	2	0	PPM1K	89418737	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.660000	0.25009	2.420000	0.82092	0.491000	0.48974	ACT		0.507	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		42	156	1	0	3.43241e-23	1	3.89856e-23	42	156					T	89199713	G	T	89199713	3	4	79	1	0	0	0	0	1	0	0	0	12390	1029	36	3	1119	3	PPM1K	4	89199713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165240	89199713	101954563	5473	15790											
HERC6	55008	broad.mit.edu	37	chr4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtgaggtccctggaGgggatcccactggctcaggt	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89311904G>T	ENST00000264346.7	+	4	596	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000380265.5_Missense_Mutation_p.E179D	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	179					hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGTCCCTGGAGGGGATCCCAC	0.627																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(535-537)gaG>gaT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							48	56	53					4																	89311904		2203	4300	6503	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89311904G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.537G>T	4.37:g.89311904G>T	ENSP00000264346:p.Glu179Asp					HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000264346.7_Missense_Mutation_p.E179D	p.E179D	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	4	720	+		Hepatocellular(203;0.114)	179					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.537G>T	CCDS47098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.574|8.574	0.880806|0.880806	0.17467|0.17467	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	D;D;D|.	0.85484|.	-1.99;-1.99;-1.99|.	4.62|4.62	-1.65|-1.65	0.08291|0.08291	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.516982|.	0.18680|.	N|.	0.134194|.	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.16478|0.16478	0.41|0.41	0.26412|0.26412	N|N	0.976246|0.976246	B;B|.	0.15719|.	0.014;0.003|.	B;B|.	0.19946|.	0.027;0.015|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.13108|.	T|.	0.6|.	.|.	0.4484|0.4484	0.00497|0.00497	0.3259:0.1176:0.2342:0.3223|0.3259:0.1176:0.2342:0.3223	.|.	179;179|.	Q8IVU3-2;Q8IVU3|.	.;HERC6_HUMAN|.	D|M	179|144	ENSP00000369617:E179D;ENSP00000273960:E179D;ENSP00000264346:E179D|.	ENSP00000264346:E179D|.	E|R	+|+	3|2	2|0	HERC6|HERC6	89530927|89530927	0.536000|0.536000	0.26378|0.26378	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	0.131000|0.131000	0.15870|0.15870	-0.175000|-0.175000	0.10725|0.10725	0.447000|0.447000	0.29281|0.29281	GAG|AGG		0.627	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			8	258	1	0	3.09899e-07	1	3.21319e-07	8	258					T	89311904	G	T	89311904	3	4	79	1	0	0	0	0	1	0	0	0	7092	991	35	3	348	3	HERC6	4	89311904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112191	89311904	101842372	5474	15791											
HERC6	55008	broad.mit.edu	37	chr4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtccacaacttgtggaaaGaattgatggcctagtttcgc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000264346.7	+	6	910	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000380265.5_Missense_Mutation_p.R284I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	284					hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(850-852)aGa>aTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							97	97	97					4																	89317258		1881	4119	6000	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89317258G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.851G>T	4.37:g.89317258G>T	ENSP00000264346:p.Arg284Ile					HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000264346.7_Missense_Mutation_p.R284I	p.R284I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	6	1034	+		Hepatocellular(203;0.114)	284					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.851G>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475392	0.43942	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.32;-1.81	4.29	2.4	0.29515	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.443550	0.04262	N	0.340499	T	0.75398	0.3844	N	0.17723	0.515	0.09310	N	1	P;B	0.44090	0.826;0.0	B;B	0.40506	0.331;0.002	T	0.67213	-0.5727	10	0.34782	T	0.22	.	5.7191	0.17976	0.1896:0.1643:0.6461:0.0	.	284;284	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	284	ENSP00000369617:R284I;ENSP00000273960:R284I;ENSP00000264346:R284I	ENSP00000264346:R284I	R	+	2	0	HERC6	89536281	0.010000	0.17322	0.471000	0.27229	0.853000	0.48598	1.106000	0.31098	1.162000	0.42619	-0.339000	0.08088	AGA		0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			47	228	1	0	5.73435e-26	1	6.59582e-26	47	228					T	89317258	G	T	89317258	3	4	79	1	0	0	0	0	1	0	0	0	7092	942	33	3	670	3	HERC6	4	89317258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5354	89317258	101837018	5475	15792											
HERC5	51191	broad.mit.edu	37	chr4	89389501	89389501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcatcctttcagaaagCcatacctcagaaaaggagtt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89389501C>T	ENST00000264350.3	+	8	1215	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	354					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S354S(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTCAGAAAGCCATACCTCAG	0.343																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			1	Substitution - coding silent(1)	p.S354S(1)	endometrium(1)	NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(1060-1062)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase 5							98	101	100					4																	89389501		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89389501C>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1062C>T	4.37:g.89389501C>T						HERC5_ENST00000508159.1_5'UTR	p.S354S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	8	1215	+		Hepatocellular(203;0.114)	354					B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.1062C>T	CCDS3630.1																																																																																				0.343	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		9	365	0	0	0	1	0	9	365					T	89389501	C	T	89389501	2	4	79	1	0	0	0	0	0	0	0	1	7091	738	26	2		2	HERC5	4	89389501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72243	89389501	101764775	5476	15793											
HERC5	51191	broad.mit.edu	37	chr4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtttatgaagaatttcGgagaggattttataaaatgt	12	2	0	3	rs375430185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17001	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2653-2655)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 5		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78	82	81		2654	3.5	1	4		81	0,8598		0,0,4299	no	missense	HERC5	NM_016323.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	885/1025	89425454	1,13003	2203	4299	6502	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89425454G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2654G>A	4.37:g.89425454G>A	ENSP00000264350:p.Arg885Gln					HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	p.R885Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	21	2807	+		Hepatocellular(203;0.114)	885			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2654G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217624	0.06101	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.49139	0.79;0.79	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.17831	0.0428	N	0.03071	-0.42	0.22581	N	0.998963	B	0.13594	0.008	B	0.14023	0.01	T	0.29822	-0.9999	10	0.02654	T	1	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	Q	885;523	ENSP00000264350:R885Q;ENSP00000424129:R523Q	ENSP00000264350:R885Q	R	+	2	0	HERC5	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG		0.323	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		89	402	0	0	0	1	0	89	402					A	89425454	G	A	89425454	3	1	79	1	0	0	0	0	1	0	0	0	7091	1116	39	1	2736	1	HERC5	4	89425454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35953	89425454	101728822	5477	15794											
HERC5	51191	broad.mit.edu	37	chr4	89426989	89426989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaaacagttgaagaagCgcttcaagaagccatcaaca	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89426989C>T	ENST00000264350.3	+	23	3188	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1012	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTTGAAGAAGCGCTTCAAGAA	0.413																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(3034-3036)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 5							56	56	56					4																	89426989		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89426989C>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3035C>T	4.37:g.89426989C>T	ENSP00000264350:p.Ala1012Val					HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	p.A1012V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	23	3188	+		Hepatocellular(203;0.114)	1012			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.3035C>T	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651724	0.67472	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.42513	0.97;0.97	4.33	4.33	0.51752	HECT (4);	0.181776	0.26808	N	0.022399	T	0.54727	0.1876	L	0.58302	1.8	0.24828	N	0.992545	D	0.61080	0.989	D	0.65323	0.934	T	0.45833	-0.9234	10	0.56958	D	0.05	.	9.5764	0.39461	0.2091:0.7909:0.0:0.0	.	1012	Q9UII4	HERC5_HUMAN	V	1012;650	ENSP00000264350:A1012V;ENSP00000424129:A650V	ENSP00000264350:A1012V	A	+	2	0	HERC5	89646012	0.978000	0.34361	0.955000	0.39395	0.921000	0.55340	2.480000	0.45206	2.240000	0.73641	0.591000	0.81541	GCG		0.413	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		5	126	0	0	0	1	0	5	126					T	89426989	C	T	89426989	3	4	79	1	0	0	0	0	1	0	0	0	7091	768	27	1	3125	1	HERC5	4	89426989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1535	89426989	101727287	5478	15795											
HERC3	8916	broad.mit.edu	37	chr4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgttttcttggggtGcagggagtgatggtcagcta	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTGGGGTGCAGGGAGTGA	0.498																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(328-330)Gca>Aca		HECT and RLD domain containing E3 ubiquitin protein ligase 3							150	145	147					4																	89571092		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89571092G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.328G>A	4.37:g.89571092G>A	ENSP00000385684:p.Ala110Thr					HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	4	567	+			110					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.328G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770586	0.49680	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054047	0.64402	D	0.000001	D	0.86952	0.6057	L	0.41492	1.28	0.80722	D	1	B;D	0.67145	0.372;0.996	B;P	0.61070	0.216;0.883	D	0.85247	0.1042	9	.	.	.	.	14.0809	0.64922	0.0:0.0:0.8496:0.1504	.	110;110	Q15034;Q8IXX3	HERC3_HUMAN;.	T	110	ENSP00000385684:A110T;ENSP00000405863:A110T;ENSP00000384005:A110T;ENSP00000389991:A110T;ENSP00000406210:A110T;ENSP00000264345:A110T	.	A	+	1	0	HERC3	89790115	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	2.734000	0.47368	2.772000	0.95346	0.650000	0.86243	GCA		0.498	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		102	437	0	0	0	1	0	102	437					A	89571092	G	A	89571092	3	1	79	1	0	0	0	0	1	0	0	0	7089	1319	46	2	334	2	HERC3	4	89571092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144103	89571092	101583184	5479	15796											
FAM13A	10144	broad.mit.edu	37	chr4	89708990	89708990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagatgctgatagtgtTccagattctgagtcctctga	11	8	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000395002.2_Silent_p.G69G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	395					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGATAGTGTTCCAGATTCTG	0.478																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1183-1185)ggA>ggG		family with sequence similarity 13, member A							112	111	111					4																	89708990		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89708990T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1185A>G	4.37:g.89708990T>C						FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	p.G395G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			10	1392	-			395					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1185A>G	CCDS34029.1																																																																																				0.478	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			79	324	0	0	0	1	0	79	324					C	89708990	T	C	89708990	2	2	79	1	0	0	0	0	0	0	0	1	5473	1770	62	4		4	FAM13A	4	89708990	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137898	89708990	101445286	5480	15797											
TIGD2	166815	broad.mit.edu	37	chr4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgcaaatgccacaggtTtacacaaacttaatctttgt	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	220	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(658-660)Tta>Gta		tigger transposable element derived 2							73	76	75					4																	90034783		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034783T>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.658T>G	4.37:g.90034783T>G	ENSP00000317170:p.Leu220Val						p.L220V	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	816	+		Hepatocellular(203;0.114)	220			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.658T>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	t	8.260	0.811071	0.16537	.	.	ENSG00000180346	ENST00000317005	T	0.42513	0.97	3.97	2.79	0.32731	.	0.546237	0.13764	U	0.364393	T	0.28632	0.0709	L	0.27053	0.805	0.19575	N	0.999963	B	0.31655	0.334	B	0.37780	0.258	T	0.21280	-1.0250	10	0.30078	T	0.28	-0.4011	3.2543	0.06826	0.2038:0.1127:0.0:0.6836	.	220	Q4W5G0	TIGD2_HUMAN	V	220	ENSP00000317170:L220V	ENSP00000317170:L220V	L	+	1	2	TIGD2	90253806	0.983000	0.35010	0.997000	0.53966	0.983000	0.72400	0.723000	0.25939	0.602000	0.29896	0.446000	0.29264	TTA		0.423	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		63	303	0	0	0	1	0	63	303					G	90034783	T	G	90034783	3	3	79	1	0	0	0	0	1	0	0	0	15948	1838	64	4	660	4	TIGD2	4	90034783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	325793	90034783	101119493	5481	15798											
GPRIN3	285513	broad.mit.edu	37	chr4	90169370	90169370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgggcctgcgtgggCtggctttgacggagcgagat	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169370C>A	ENST00000609438.1	-	2	2410	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S631I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	631										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCGTGGGCTGGCTTTGAC	0.577																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1891-1893)aGc>aTc		GPRIN family member 3							72	75	74					4																	90169370		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169370C>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1892G>T	4.37:g.90169370C>A	ENSP00000476603:p.Ser631Ile						p.S631I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2410	-		Hepatocellular(203;0.114)	631					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1892G>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045073	0.75846	.	.	ENSG00000185477	ENST00000333209	T	0.26518	1.73	5.64	5.64	0.86602	.	0.000000	0.40469	N	0.001088	T	0.41627	0.1167	L	0.29908	0.895	0.34145	D	0.666898	D	0.89917	1.0	D	0.83275	0.996	T	0.51140	-0.8743	10	0.62326	D	0.03	-17.3889	17.895	0.88885	0.0:1.0:0.0:0.0	.	631	Q6ZVF9	GRIN3_HUMAN	I	631	ENSP00000328672:S631I	ENSP00000328672:S631I	S	-	2	0	GPRIN3	90388393	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.288000	0.43514	2.654000	0.90174	0.655000	0.94253	AGC		0.577	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		11	633	1	0	1.58986e-06	1	1.64048e-06	11	633					A	90169370	C	A	90169370	3	1	79	1	0	0	0	0	1	0	0	0	6761	797	28	3	442	3	GPRIN3	4	90169370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134587	90169370	100984906	5482	15799											
GPRIN3	285513	broad.mit.edu	37	chr4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgctaacctcccatcttCtttacacgtatgctgggcat	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	436										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCCCATCTTCTTTACACGTA	0.468																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1306-1308)Gaa>Aaa		GPRIN family member 3							94	95	95					4																	90169956		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169956C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1306G>A	4.37:g.90169956C>T	ENSP00000476603:p.Glu436Lys						p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1824	-		Hepatocellular(203;0.114)	436					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1306G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613589	0.28712	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.82	2.05	0.26809	.	0.481105	0.15476	N	0.260322	T	0.07818	0.0196	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.41770	-0.9490	10	0.17369	T	0.5	-8.3944	8.4706	0.32982	0.0:0.6282:0.2928:0.0789	.	436	Q6ZVF9	GRIN3_HUMAN	K	436	ENSP00000328672:E436K	ENSP00000328672:E436K	E	-	1	0	GPRIN3	90388979	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	0.180000	0.16860	0.211000	0.20683	0.563000	0.77884	GAA		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		90	441	0	0	0	1	0	90	441					T	90169956	C	T	90169956	3	4	79	1	0	0	0	0	1	0	0	0	6761	922	32	2	1028	2	GPRIN3	4	90169956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	90169956	100984320	5483	15800											
GPRIN3	285513	broad.mit.edu	37	chr4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctctgtgatctcatcaggGaatcttcaggcatggatgag	11	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	154										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(460-462)tCc>tTc		GPRIN family member 3							161	155	157					4																	90170801		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170801G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.461C>T	4.37:g.90170801G>A	ENSP00000476603:p.Ser154Phe						p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	979	-		Hepatocellular(203;0.114)	154					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.461C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115217	0.37339	.	.	ENSG00000185477	ENST00000333209	T	0.14144	2.53	4.98	3.27	0.37495	.	1.263240	0.06064	N	0.658931	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.34204	-0.9838	10	0.72032	D	0.01	0.6284	10.0464	0.42188	0.1562:0.0:0.8438:0.0	.	154	Q6ZVF9	GRIN3_HUMAN	F	154	ENSP00000328672:S154F	ENSP00000328672:S154F	S	-	2	0	GPRIN3	90389824	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.839000	0.27586	0.815000	0.34398	-0.145000	0.13849	TCC		0.512	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		119	515	0	0	0	1	0	119	515					A	90170801	G	A	90170801	3	1	79	1	0	0	0	0	1	0	0	0	6761	1174	41	2	1873	2	GPRIN3	4	90170801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	90170801	100983475	5484	15801											
MMRN1	22915	broad.mit.edu	37	chr4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgatgctgcaaatgtTtgaagatttgcacattcaag	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000394980.1	+	7	2010	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S			Q13201	MMRN1_HUMAN	multimerin 1	564					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGCAAATGTTTGAAGATTTG	0.383																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(1690-1692)tTt>tCt		multimerin 1							69	71	70					4																	90856522		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856522T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1691T>C	4.37:g.90856522T>C	ENSP00000378431:p.Phe564Ser					MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S	p.F564S			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2010	+		Hepatocellular(203;0.114)	564					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1691T>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	2.832	-0.242392	0.05906	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68765	-0.02;-0.02;-0.35	5.12	-1.87	0.07737	.	0.556954	0.18268	N	0.146411	T	0.44726	0.1307	L	0.31294	0.92	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.17684	-1.0361	10	0.33940	T	0.23	.	4.6722	0.12694	0.2727:0.3577:0.0:0.3696	.	564	Q13201	MMRN1_HUMAN	S	564;564;306	ENSP00000378431:F564S;ENSP00000264790:F564S;ENSP00000426461:F306S	ENSP00000264790:F564S	F	+	2	0	MMRN1	91075545	0.229000	0.23729	0.001000	0.08648	0.052000	0.14988	0.727000	0.25999	-0.075000	0.12798	0.482000	0.46254	TTT		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		70	290	0	0	0	1	0	70	290					C	90856522	T	C	90856522	3	2	79	1	0	0	0	0	1	0	0	0	9711	1841	64	4	1713	4	MMRN1	4	90856522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	685721	90856522	100297754	5485	15802											
MMRN1	22915	broad.mit.edu	37	chr4	90872841	90872841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctttacctgtgcctgcagAcatccttttactggtgacaa	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000394980.1	+	8	3523	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R			Q13201	MMRN1_HUMAN	multimerin 1	1068	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGCCTGCAGACATCCTTTTA	0.433																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3202-3204)agA>agG		multimerin 1							114	97	103					4																	90872841		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872841A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3204A>G	4.37:g.90872841A>G						MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R	p.R1068R			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3523	+		Hepatocellular(203;0.114)	1068			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3204A>G	CCDS3635.1																																																																																				0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		58	275	0	0	0	1	0	58	275					G	90872841	A	G	90872841	2	3	79	1	0	0	0	0	0	0	0	1	9711	272	10	4		4	MMRN1	4	90872841	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16319	90872841	100281435	5486	15803											
MMRN1	22915	broad.mit.edu	37	chr4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatatgcacccatggtgGcattttttgcatctcatacg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000394980.1	+	9	3623	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T			Q13201	MMRN1_HUMAN	multimerin 1	1102	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACCCATGGTGGCATTTTTTGC	0.348																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3304-3306)Gca>Aca		multimerin 1							105	109	108					4																	90874186		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874186G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3304G>A	4.37:g.90874186G>A	ENSP00000378431:p.Ala1102Thr					MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T	p.A1102T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	9	3623	+		Hepatocellular(203;0.114)	1102			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3304G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347667	0.82022	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.178274	0.39083	N	0.001472	D	0.91895	0.7434	M	0.73598	2.24	0.34893	D	0.745759	D;D	0.89917	0.996;1.0	D;D	0.91635	0.974;0.999	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7536	0.85493	0.0:0.0:1.0:0.0	.	405;1102	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1102;1102;405;844	ENSP00000378431:A1102T;ENSP00000264790:A1102T;ENSP00000378432:A405T;ENSP00000426461:A844T	ENSP00000264790:A1102T	A	+	1	0	MMRN1	91093209	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.628000	0.61282	2.569000	0.86673	0.484000	0.47621	GCA		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		98	459	0	0	0	1	0	98	459					A	90874186	G	A	90874186	3	1	79	1	0	0	0	0	1	0	0	0	9711	1203	42	2	3334	2	MMRN1	4	90874186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345	90874186	100280090	5487	15804											
FAM190A	401145	broad.mit.edu	37	chr4	91230540	91230540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcagagagtaacctaccaGcagatagtgaaagagaagaa	10	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:91230540G>T	ENST00000509176.1	+	2	1393	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	CCSER1_ENST00000333691.8_Missense_Mutation_p.A369S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A369S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	369																	TAACCTACCAGCAGATAGTGA	0.408																																						ENST00000509176.1																			0											c.(1105-1107)Gca>Tca		coiled-coil serine-rich protein 1							102	96	98					4																	91230540		1834	4092	5926	SO:0001583	missense	401145							g.chr4:91230540G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1105G>T	4.37:g.91230540G>T	ENSP00000425040:p.Ala369Ser					CCSER1_ENST00000333691.8_Missense_Mutation_p.A369S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A369S	p.A369S	NM_001145065.1	NP_001138537.1					2	1393	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1105G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177356	0.06380	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.42900	1.51;0.96;1.51	4.72	1.95	0.26073	.	0.765331	0.11598	N	0.547988	T	0.24736	0.0600	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25904	0.0;0.069;0.137	B;B;B	0.29942	0.003;0.055;0.109	T	0.29852	-0.9998	10	0.12766	T	0.61	-1.2731	9.6144	0.39683	0.2405:0.0:0.7595:0.0	.	369;369;369	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	S	369	ENSP00000425040:A369S;ENSP00000389283:A369S;ENSP00000329482:A369S	ENSP00000329482:A369S	A	+	1	0	FAM190A	91449563	0.000000	0.05858	0.002000	0.10522	0.329000	0.28539	0.769000	0.26604	0.257000	0.21650	0.585000	0.79938	GCA		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		68	273	1	0	1.55545e-33	1	1.84439e-33	68	273					T	91230540	G	T	91230540	3	4	79	1	0	0	0	0	1	0	0	0	5542	971	34	3	1107	3	FAM190A	4	91230540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356354	91230540	99923736	5488	15805											
GRID2	2895	broad.mit.edu	37	chr4	94006190	94006190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccctggtcagctccAttggctgcacgtcagcagga	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94006190A>G	ENST00000282020.4	+	3	547	c.289A>G	c.(289-291)Att>Gtt	p.I97V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	97					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)			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)		GGTCAGCTCCATTGGCTGCAC	0.512																																						ENST00000282020.4																			0				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						c.(289-291)Att>Gtt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						101	81	88					4																	94006190		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.chr4:94006190A>G	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.289A>G	4.37:g.94006190A>G	ENSP00000282020:p.Ile97Val					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.I97V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	547	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	97					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.289A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258560	0.59321	.	.	ENSG00000152208	ENST00000282020	D	0.81499	-1.5	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.167972	0.50627	D	0.000117	T	0.77294	0.4109	L	0.34521	1.04	0.80722	D	1	P;P	0.46327	0.589;0.876	B;P	0.47376	0.216;0.545	T	0.77083	-0.2719	10	0.36615	T	0.2	.	15.2094	0.73206	1.0:0.0:0.0:0.0	.	97;38	O43424;B4DYB9	GRID2_HUMAN;.	V	97	ENSP00000282020:I97V	ENSP00000282020:I97V	I	+	1	0	GRID2	94225213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.064000	0.61679	0.533000	0.62120	ATT		0.512	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			12	304	0	0	0	1	0	12	304					G	94006190	A	G	94006190	3	3	79	1	0	0	0	0	1	0	0	0	6802	217	8	4	299	4	GRID2	4	94006190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2775650	94006190	97148086	5489	15806											
GRID2	2895	broad.mit.edu	37	chr4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catggaatggcttggtaggaGaacttgtctttaaggtaaga	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	511					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)			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)		CTTGGTAGGAGAACTTGTCTT	0.368																																						ENST00000282020.4																			0				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						c.(1531-1533)Gaa>Aaa		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						102	100	101					4																	94344105		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.chr4:94344105G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1531G>A	4.37:g.94344105G>A	ENSP00000282020:p.Glu511Lys					GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	p.E511K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1789	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	511					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1531G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286897	0.95517	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	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	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.994;0.998	T	0.53373	-0.8448	10	0.87932	D	0	.	19.4969	0.95077	0.0:0.0:1.0:0.0	.	416;511	E9PH24;O43424	.;GRID2_HUMAN	K	511;416	ENSP00000282020:E511K;ENSP00000421257:E416K	ENSP00000282020:E511K	E	+	1	0	GRID2	94563128	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	9.864000	0.99589	2.611000	0.88343	0.650000	0.86243	GAA		0.368	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			51	204	0	0	0	1	0	51	204					A	94344105	G	A	94344105	3	1	79	1	0	0	0	0	1	0	0	0	6802	943	33	2	1569	2	GRID2	4	94344105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337915	94344105	96810171	5490	15807											
GRID2	2895	broad.mit.edu	37	chr4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttacaccattggaaataCtgttgctgatcggggatatg	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	764					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)			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)		ATTGGAAATACTGTTGCTGAT	0.393																																						ENST00000282020.4																			0				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						c.(2290-2292)aCt>aAt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						196	175	182					4																	94547517		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.chr4:94547517C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2291C>A	4.37:g.94547517C>A	ENSP00000282020:p.Thr764Asn					GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	p.T764N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	14	2549	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	764					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2291C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.088108	0.85682	D	0.000000	T	0.06645	0.0170	N	0.03154	-0.405	0.42195	D	0.991745	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	.	18.9243	0.92538	0.0:1.0:0.0:0.0	.	669;764	E9PH24;O43424	.;GRID2_HUMAN	N	764;669	ENSP00000282020:T764N;ENSP00000421257:T669N	ENSP00000282020:T764N	T	+	2	0	GRID2	94766540	0.991000	0.36638	0.539000	0.28077	0.966000	0.64601	2.961000	0.49168	2.542000	0.85734	0.484000	0.47621	ACT		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			106	413	1	0	4.58075e-42	1	5.57258e-42	106	413					A	94547517	C	A	94547517	3	1	79	1	0	0	0	0	1	0	0	0	6802	565	20	3	2345	3	GRID2	4	94547517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203412	94547517	96606759	5491	15808											
ATOH1	474	broad.mit.edu	37	chr4	94750764	94750764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaccgccgcctccagcCtcctgcaaaagcgaccacca	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	229					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(685-687)gcC>gcT		atonal homolog 1 (Drosophila)							26	30	29					4																	94750764		2199	4292	6491	SO:0001819	synonymous_variant	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750764C>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.687C>T	4.37:g.94750764C>T							p.A229A	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	723	+		Hepatocellular(203;0.114)	229					Q14CT9	Silent	SNP	ENST00000306011.3	37	c.687C>T	CCDS3638.1																																																																																				0.647	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		85	314	0	0	0	1	0	85	314					T	94750764	C	T	94750764	2	4	79	1	0	0	0	0	0	0	0	1	1113	668	24	2		2	ATOH1	4	94750764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203247	94750764	96403512	5492	15809											
SMARCAD1	56916	broad.mit.edu	37	chr4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagaagataacagaaCtccggccctttaatagttgg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000509418.1_5'Flank|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	418					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATAACAGAACTCCGGCCCTT	0.383																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1252-1254)Ctc>Ttc		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							92	101	98					4																	95174129		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95174129C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1252C>T	4.37:g.95174129C>T	ENSP00000346217:p.Leu418Phe					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F	p.L418F			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	9	1325	+			418					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1252C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310151	0.60414	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.89196	-2.48;-2.48;-2.47	5.49	5.49	0.81192	.	0.000000	0.44688	D	0.000424	D	0.92071	0.7487	M	0.69823	2.125	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.59889	0.668;0.865	D	0.89337	0.3651	10	0.14656	T	0.56	-7.8768	15.7026	0.77552	0.0:0.8632:0.1368:0.0	.	418;418	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	418	ENSP00000351947:L418F;ENSP00000415576:L418F;ENSP00000346217:L418F	ENSP00000346217:L418F	L	+	1	0	SMARCAD1	95393152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.582000	0.87167	0.655000	0.94253	CTC		0.383	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		129	587	0	0	0	1	0	129	587					T	95174129	C	T	95174129	3	4	79	1	0	0	0	0	1	0	0	0	14822	565	20	2	1282	2	SMARCAD1	4	95174129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423365	95174129	95980147	5493	15810											
SMARCAD1	56916	broad.mit.edu	37	chr4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagcagaagatagatgCcatagagtaggccagactaa	10	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000354268.4	+	22	2962	c.2889C>A	c.(2887-2889)tgC>tgA	p.C963*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	963	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGATAGATGCCATAGAGTAG	0.338																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2887-2889)tgC>tgA		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							114	114	114					4																	95204434		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95204434C>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2889C>A	4.37:g.95204434C>A	ENSP00000346217:p.Cys963*					SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*	p.C963*			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	22	2962	+			963			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2889C>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	40	8.211293	0.98706	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.48	3.72	0.42706	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5904	8.1683	0.31239	0.0:0.7039:0.0:0.2961	.	.	.	.	X	965;965;963;533	.	ENSP00000346217:C963X	C	+	3	2	SMARCAD1	95423457	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.457000	0.21875	1.289000	0.44618	0.591000	0.81541	TGC		0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		35	213	1	0	2.1956e-27	1	2.54205e-27	35	213					A	95204434	C	A	95204434	4	1	79	1	0	0	0	0	0	1	0	0	14822	747	26	3	2977	3	SMARCAD1	4	95204434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30305	95204434	95949842	5494	15811											
UNC5C	8633	broad.mit.edu	37	chr4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagctggaagatctgccCttctccttccacctgccgca	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	806					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2416-2418)Ggg>Agg		unc-5 homolog C (C. elegans)							148	124	132					4																	96104083		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96104083C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2416G>A	4.37:g.96104083C>T	ENSP00000406022:p.Gly806Arg						p.G806R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	14	2764	-		Hepatocellular(203;0.114)	806					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2416G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156487	0.94686	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.50548	0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56547	-0.7961	10	0.25106	T	0.35	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	806	O95185	UNC5C_HUMAN	R	806;765	ENSP00000406022:G806R	ENSP00000328673:G765R	G	-	1	0	UNC5C	96323106	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.792000	0.85828	2.770000	0.95276	0.655000	0.94253	GGG		0.522	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		97	374	0	0	0	1	0	97	374					T	96104083	C	T	96104083	3	4	79	1	0	0	0	0	1	0	0	0	17047	681	24	2	391	2	UNC5C	4	96104083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899649	96104083	95050193	5495	15812											
UNC5C	8633	broad.mit.edu	37	chr4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatcgtgaattgacaggcGcaggttgtgggtgctgcctt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2224-2226)Cgc>Tgc		unc-5 homolog C (C. elegans)							117	117	117					4																	96106260		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106260G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2224C>T	4.37:g.96106260G>A	ENSP00000406022:p.Arg742Cys						p.R742C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2572	-		Hepatocellular(203;0.114)	742					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2224C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132411	0.77662	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.87	5.87	0.94306	.	0.104565	0.64402	D	0.000005	T	0.62624	0.2443	L	0.39467	1.215	0.80722	D	1	P;D	0.89917	0.548;1.0	B;D	0.85130	0.036;0.997	T	0.55224	-0.8174	10	0.33141	T	0.24	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	742;742	A8K385;O95185	.;UNC5C_HUMAN	C	742;701	ENSP00000406022:R742C	ENSP00000328673:R701C	R	-	1	0	UNC5C	96325283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.024000	0.64090	2.788000	0.95919	0.650000	0.86243	CGC		0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		136	527	0	0	0	1	0	136	527					A	96106260	G	A	96106260	3	1	79	1	0	0	0	0	1	0	0	0	17047	1087	38	1	587	1	UNC5C	4	96106260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2177	96106260	95048016	5496	15813											
UNC5C	8633	broad.mit.edu	37	chr4	96140199	96140199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggatcagtctgccttgcTagactctggttcttcaggct	11	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000453304.1	-	9	1914	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_ENST00000506749.1_Silent_p.L541L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	522					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1564-1566)ctA>ctG		unc-5 homolog C (C. elegans)							145	114	125					4																	96140199		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140199T>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1566A>G	4.37:g.96140199T>C						UNC5C_ENST00000506749.1_Silent_p.L541L	p.L522L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1914	-		Hepatocellular(203;0.114)	522					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1566A>G	CCDS3643.1																																																																																				0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		82	358	0	0	0	1	0	82	358					C	96140199	T	C	96140199	2	2	79	1	0	0	0	0	0	0	0	1	17047	1509	53	4		4	UNC5C	4	96140199	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33939	96140199	95014077	5497	15814											
UNC5C	8633	broad.mit.edu	37	chr4	96163599	96163599	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatgcaaagcccatcAgtgcagttcttggattgcaa	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000453304.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000506749.1_Silent_p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	363	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1087-1089)acT>acG		unc-5 homolog C (C. elegans)							64	55	58					4																	96163599		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163599A>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1089T>G	4.37:g.96163599A>C						UNC5C_ENST00000506749.1_Silent_p.T363T	p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1437	-		Hepatocellular(203;0.114)	363			TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1089T>G	CCDS3643.1																																																																																				0.517	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		48	155	0	0	0	1	0	48	155					C	96163599	A	C	96163599	2	2	79	1	0	0	0	0	0	0	0	1	17047	175	7	4		4	UNC5C	4	96163599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23400	96163599	94990677	5498	15815											
UNC5C	8633	broad.mit.edu	37	chr4	96163662	96163662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccattcttgggggctggCgccgtgcactccctcctgcg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000453304.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000506749.1_Silent_p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	342	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1024-1026)gcG>gcA		unc-5 homolog C (C. elegans)							49	40	43					4																	96163662		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163662C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1026G>A	4.37:g.96163662C>T						UNC5C_ENST00000506749.1_Silent_p.A342A	p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1374	-		Hepatocellular(203;0.114)	342			TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1026G>A	CCDS3643.1																																																																																				0.557	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		20	101	0	0	0	1	0	20	101					T	96163662	C	T	96163662	2	4	79	1	0	0	0	0	0	0	0	1	17047	755	27	1		1	UNC5C	4	96163662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	96163662	94990614	5499	15816											
UNC5C	8633	broad.mit.edu	37	chr4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgcactccctcctgcGccagtgggtgcactcagttc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000453304.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	336	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1006-1008)Cgc>Tgc		unc-5 homolog C (C. elegans)							41	34	36					4																	96163682		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163682G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1006C>T	4.37:g.96163682G>A	ENSP00000406022:p.Arg336Cys					UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1354	-		Hepatocellular(203;0.114)	336			TSP type-1 2.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1006C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345295	0.82022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.78924	-1.22;-1.22;-1.22	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96276	0.9202	10	0.87932	D	0	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	336;336;336	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	336;295;336;336	ENSP00000406022:R336C;ENSP00000426924:R336C;ENSP00000426153:R336C	ENSP00000328673:R295C	R	-	1	0	UNC5C	96382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.805000	0.96524	0.655000	0.94253	CGC		0.587	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	83	0	0	0	1	0	13	83					A	96163682	G	A	96163682	3	1	79	1	0	0	0	0	1	0	0	0	17047	1087	38	1	1829	1	UNC5C	4	96163682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	96163682	94990594	5500	15817											
PDHA2	5161	broad.mit.edu	37	chr4	96761415	96761415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacatttgaaattaagaaAtgtgatctttatctgttgga	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	38					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AAATTAAGAAATGTGATCTTT	0.507																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(112-114)aaA>aaG		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						56	57	57					4																	96761415		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761415A>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.114A>G	4.37:g.96761415A>G							p.K38K	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	177	+		Hepatocellular(203;0.114)	38					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.114A>G	CCDS3644.1																																																																																				0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			37	181	0	0	0	1	0	37	181					G	96761415	A	G	96761415	2	3	79	1	0	0	0	0	0	0	0	1	11707	98	4	4		4	PDHA2	4	96761415	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597733	96761415	94392861	5501	15818											
C4orf37	285555	broad.mit.edu	37	chr4	99064225	99064225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaaaggtacctggTaggatccaggacccacatgg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99064225T>C	ENST00000295268.3	-	1	166	c.77A>G	c.(76-78)tAc>tGc	p.Y26C		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	26																	AGGTACCTGGTAGGATCCAGG	0.592											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295268.3																			0											c.(76-78)tAc>tGc		sperm-tail PG-rich repeat containing 2							63	44	50					4																	99064225		2203	4300	6503	SO:0001583	missense	285555							g.chr4:99064225T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.77A>G	4.37:g.99064225T>C	ENSP00000295268:p.Tyr26Cys		OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1340		p.Y26C	NM_174952.2	NP_777612.1					1	166	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.77A>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084050	0.76642	.	.	ENSG00000163116	ENST00000295268	T	0.60299	0.2	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.75140	0.3809	M	0.78049	2.395	0.42150	D	0.991554	D	0.89917	1.0	D	0.91635	0.999	T	0.78957	-0.1999	10	0.87932	D	0	-7.0612	12.0642	0.53578	0.0:0.0:0.0:1.0	.	26	Q8N412	CD037_HUMAN	C	26	ENSP00000295268:Y26C	ENSP00000295268:Y26C	Y	-	2	0	C4orf37	99283248	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.617000	0.54181	2.105000	0.64084	0.528000	0.53228	TAC		0.592	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		20	91	0	0	0	1	0	20	91					C	99064225	T	C	99064225	3	2	79	1	0	0	0	0	1	0	0	0	2274	1638	57	4	1346	4	C4orf37	4	99064225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2302810	99064225	92090051	5502	15819											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttggattgtctgcttcaaGccctggctcaaaatagtaag	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	33					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTGCTTCAAGCCCTGGCTCA	0.358			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(97-99)Gcc>Tcc		RAP1, GTP-GDP dissociation stimulator 1							71	65	66					4																	99214651		1846	4088	5934	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99214651G>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.97G>T	4.37:g.99214651G>T	ENSP00000386153:p.Ala33Ser					RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000512857.1_3'UTR	p.A33S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	2	210	+			33					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.97G>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052140	0.75960	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.52295	1.58;1.43;1.55;0.67;1.43;1.28;1.43;0.74;1.43;1.44	5.6	4.75	0.60458	Armadillo-like helical (1);	0.132185	0.48767	N	0.000170	T	0.59770	0.2218	L	0.56769	1.78	0.46874	D	0.999235	P;D;D;D;P;P;P	0.76494	0.869;0.996;0.994;0.999;0.822;0.824;0.822	P;D;D;D;P;B;P	0.78314	0.542;0.987;0.97;0.991;0.7;0.348;0.7	T	0.57705	-0.7765	10	0.07990	T	0.79	-0.798	13.7348	0.62811	0.0:0.0:0.8455:0.1544	.	34;33;34;33;34;34;33	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	S	33;34;34;33;33;33;34;34;33;34	ENSP00000425992:A33S;ENSP00000369503:A34S;ENSP00000264572:A34S;ENSP00000426096:A33S;ENSP00000386153:A33S;ENSP00000424324:A33S;ENSP00000407157:A34S;ENSP00000421599:A34S;ENSP00000386223:A33S;ENSP00000340454:A34S	ENSP00000264572:A34S	A	+	1	0	RAP1GDS1	99433674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	1.328000	0.45358	0.557000	0.71058	GCC		0.358	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		27	117	1	0	7.26314e-15	1	7.90818e-15	27	117					T	99214651	G	T	99214651	3	4	79	1	0	0	0	0	1	0	0	0	13089	971	34	3	106	3	RAP1GDS1	4	99214651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150426	99214651	91939625	5503	15820											
EIF4E	1977	broad.mit.edu	37	chr4	99823032	99823032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttagaaagcttacctgttCtgtaggggatgtttaatata	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99823032C>T	ENST00000450253.2	-	2	1644	c.120G>A	c.(118-120)caG>caA	p.Q40Q	EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.Q68Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	40	EIF4EBP1/2/3 binding.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CTTACCTGTTCTGTAGGGGAT	0.423																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(118-120)caG>caA		eukaryotic translation initiation factor 4E							138	133	135					4																	99823032		2203	4300	6503	SO:0001819	synonymous_variant	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823032C>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.120G>A	4.37:g.99823032C>T						EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Silent_p.Q60Q	p.Q40Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1644	-			40			EIF4EBP1/2/3 binding.		B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.120G>A	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686326	0.14973	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	4.15	0.48705	.	.	.	.	.	T	0.59756	0.2217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56044	-0.8044	4	.	.	.	-15.0647	9.6323	0.39787	0.0:0.7397:0.0:0.2603	.	.	.	.	K	37	.	.	E	-	1	0	EIF4E	100042055	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.518000	0.22847	0.948000	0.37687	0.643000	0.83706	GAA		0.423	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		11	676	0	0	0	1	0	11	676					T	99823032	C	T	99823032	2	4	79	1	0	0	0	0	0	0	0	1	5046	912	32	2		2	EIF4E	4	99823032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608381	99823032	91331244	5504	15821											
METAP1	23173	broad.mit.edu	37	chr4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacattatccagaagcatgCccaagcaaatgggttttcag	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	280					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)			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)		CAGAAGCATGCCCAAGCAAAT	0.398																																						ENST00000296411.6																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(838-840)gCc>gTc		methionyl aminopeptidase 1							183	174	177					4																	99969935		1877	4104	5981	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.chr4:99969935C>T	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.839C>T	4.37:g.99969935C>T	ENSP00000296411:p.Ala280Val					METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	p.A280V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	9	973	+			280					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.839C>T	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676809	0.67928	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.77750	-1.12;-1.12;-1.12	4.4	4.4	0.53042	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.46567	1.45	0.80722	D	1	P	0.51653	0.947	P	0.55824	0.785	T	0.80301	-0.1440	9	.	.	.	-12.0974	17.5417	0.87850	0.0:1.0:0.0:0.0	.	280	P53582	AMPM1_HUMAN	V	280;230;64	ENSP00000296411:A280V;ENSP00000440993:A230V;ENSP00000423071:A64V	.	A	+	2	0	METAP1	100188958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.440000	0.82611	0.585000	0.79938	GCC		0.398	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		109	387	0	0	0	1	0	109	387					T	99969935	C	T	99969935	3	4	79	1	0	0	0	0	1	0	0	0	9527	739	26	2	873	2	METAP1	4	99969935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146903	99969935	91184341	5505	15822											
ADH5	128	broad.mit.edu	37	chr4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccataaccggttgaaatgCcacaacctagaaggcagact	8	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GGTTGAAATGCCACAACCTAG	0.418																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(523-525)gGc>gAc		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						73	67	69					4																	99997895		1896	4126	6022	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99997895C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.524G>A	4.37:g.99997895C>T	ENSP00000296412:p.Gly175Asp					ADH5_ENST00000512991.1_5'UTR	p.G175D	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	5	574	-			175						Missense_Mutation	SNP	ENST00000296412.8	37	c.524G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617379	0.87359	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.23348	1.91;1.91	5.1	4.26	0.50523	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.99815	4.805	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	0.85057	0.0932	9	.	.	.	-18.4869	14.0279	0.64597	0.0:0.9276:0.0:0.0724	.	175;175;175	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	175;162	ENSP00000296412:G175D;ENSP00000427049:G162D	.	G	-	2	0	ADH5	100216918	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	3.157000	0.50716	1.535000	0.49220	0.650000	0.86243	GGC		0.418	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		24	135	0	0	0	1	0	24	135					T	99997895	C	T	99997895	3	4	79	1	0	0	0	0	1	0	0	0	311	739	26	2	620	2	ADH5	4	99997895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27960	99997895	91156381	5506	15823											
ADH5	128	broad.mit.edu	37	chr4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtaaatctgctggtaCcatctggcattaatcctttc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TCTGCTGGTACCATCTGGCAT	0.368																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(376-378)gGt>gAt		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						36	34	34					4																	99998042		1844	4077	5921	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99998042C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.377G>A	4.37:g.99998042C>T	ENSP00000296412:p.Gly126Asp					ADH5_ENST00000512991.1_5'UTR	p.G126D	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	5	427	-			126						Missense_Mutation	SNP	ENST00000296412.8	37	c.377G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413953	0.62511	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03717	3.83;3.83	5.2	4.28	0.50868	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.498508	0.24988	N	0.034012	T	0.15176	0.0366	M	0.88906	2.99	0.58432	D	0.999993	P;P;P	0.43519	0.809;0.809;0.809	P;P;P	0.50825	0.651;0.651;0.651	T	0.00206	-1.1921	9	.	.	.	.	14.3347	0.66581	0.0:0.9184:0.0:0.0816	.	126;126;126	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	126;113	ENSP00000296412:G126D;ENSP00000427049:G113D	.	G	-	2	0	ADH5	100217065	0.002000	0.14202	0.992000	0.48379	0.995000	0.86356	0.281000	0.18810	2.716000	0.92895	0.650000	0.86243	GGT		0.368	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		9	104	0	0	0	1	0	9	104					T	99998042	C	T	99998042	3	4	79	1	0	0	0	0	1	0	0	0	311	507	18	2	767	2	ADH5	4	99998042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	99998042	91156234	5507	15824											
ADH4	127	broad.mit.edu	37	chr4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaggtaaacctgctgGttttgtcttccattagttgt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000265512.7	-	5	472	c.398C>T	c.(397-399)aCc>aTc	p.T133I	ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.T152I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	133					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		AAACCTGCTGGTTTTGTCTTC	0.338																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(454-456)aCc>aTc		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						103	100	101					4																	100057801		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100057801G>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.398C>T	4.37:g.100057801G>A	ENSP00000265512:p.Thr133Ile					ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.T133I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I	p.T152I			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	6	620	-			133					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.455C>T	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544064	0.65198	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.55	3.7	0.42460	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.388495	0.22795	N	0.055556	T	0.31734	0.0806	H	0.95365	3.66	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51601	-0.8685	10	0.87932	D	0	-8.474	14.6936	0.69103	0.0:0.1458:0.8542:0.0	.	152;133	P08319-2;P08319	.;ADH4_HUMAN	I	152;133;152;152;152	ENSP00000424630:T152I;ENSP00000265512:T133I;ENSP00000397939:T152I;ENSP00000425416:T152I;ENSP00000423571:T152I	ENSP00000265512:T133I	T	-	2	0	ADH4	100276824	0.999000	0.42202	0.989000	0.46669	0.900000	0.52787	2.643000	0.46604	1.135000	0.42183	0.650000	0.86243	ACC		0.338	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		63	245	0	0	0	1	0	63	245					A	100057801	G	A	100057801	3	1	79	1	0	0	0	0	1	0	0	0	310	1261	44	2	764	2	ADH4	4	100057801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59759	100057801	91096475	5508	15825											
ADH6	130	broad.mit.edu	37	chr4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagaacccttcaaagaaCgtcctgagaagaacaactgg	8	10	1	4	rs367908790		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000237653.7	-	7	1322	c.938G>A	c.(937-939)cGt>cAt	p.R313H	ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CTTCAAAGAACGTCCTGAGAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17316	0.0		0.001	False		,,,				2504	0.0					ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(937-939)cGt>cAt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	135	131	133		938,938	3	0.4	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	313/369,313/376	100128629	1,13005	2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100128629C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.938G>A	4.37:g.100128629C>T	ENSP00000237653:p.Arg313His					ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.R313H	p.R313H	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	7	1031	-			313					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.938G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945042	0.53079	0.0	1.16E-4	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.8	2.95	0.34219	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.46210	0.1381	M	0.90198	3.095	0.80722	D	1	D;P;D	0.89917	0.999;0.901;1.0	D;B;D	0.79108	0.949;0.308;0.992	T	0.53697	-0.8402	10	0.87932	D	0	-8.4352	11.3605	0.49640	0.0:0.9083:0.0:0.0917	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	H	313;104;313;249	ENSP00000378359:R313H;ENSP00000384997:R104H;ENSP00000237653:R313H;ENSP00000426187:R249H	ENSP00000237653:R313H	R	-	2	0	ADH6	100347652	0.998000	0.40836	0.403000	0.26384	0.171000	0.22731	4.432000	0.59922	0.698000	0.31739	0.563000	0.77884	CGT		0.483	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		71	390	0	0	0	1	0	71	390					T	100128629	C	T	100128629	3	4	79	1	0	0	0	0	1	0	0	0	312	536	19	1	205	1	ADH6	4	100128629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70828	100128629	91025647	5509	15826											
ADH1A	124	broad.mit.edu	37	chr4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgcattttccacacTgaggaatagcgagtgggatg	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	97					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTCCACACTGAGGAATAGC	0.403																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(289-291)cAg>cGg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						96	92	94					4																	100205930		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205930T>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.290A>G	4.37:g.100205930T>C	ENSP00000209668:p.Gln97Arg					RP11-696N14.1_ENST00000500358.2_RNA	p.Q97R	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	403	-			97					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.290A>G	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023259	0.54683	.	.	ENSG00000187758	ENST00000209668	T	0.04758	3.56	3.51	3.51	0.40186	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00670	-1.1617	10	0.87932	D	0	-18.8157	12.3143	0.54946	0.0:0.0:0.0:1.0	.	97	P07327	ADH1A_HUMAN	R	97	ENSP00000209668:Q97R	ENSP00000209668:Q97R	Q	-	2	0	ADH1A	100424953	1.000000	0.71417	0.981000	0.43875	0.348000	0.29142	5.514000	0.67043	1.354000	0.45846	0.377000	0.23210	CAG		0.403	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		10	280	0	0	0	1	0	10	280					C	100205930	T	C	100205930	3	2	79	1	0	0	0	0	1	0	0	0	307	1580	55	4	861	4	ADH1A	4	100205930	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77301	100205930	90948346	5510	15827											
ADH1A	124	broad.mit.edu	37	chr4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcacaggaagtggggtcaCcatggtaccactaaccacgt	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	59					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGGGGTCACCATGGTACCA	0.488																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(175-177)Gtg>Ttg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						181	161	168					4																	100208091		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208091C>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.175G>T	4.37:g.100208091C>A	ENSP00000209668:p.Val59Leu					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.V59L	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	288	-			59					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.175G>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129175	0.08981	.	.	ENSG00000187758	ENST00000209668	T	0.04551	3.6	2.79	-1.21	0.09524	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.209390	0.05695	N	0.593050	T	0.02267	0.0070	N	0.02266	-0.62	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46091	-0.9216	10	0.87932	D	0	-0.0363	5.046	0.14485	0.1436:0.5154:0.0:0.341	.	59	P07327	ADH1A_HUMAN	L	59	ENSP00000209668:V59L	ENSP00000209668:V59L	V	-	1	0	ADH1A	100427114	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.817000	0.00359	-0.258000	0.09446	0.460000	0.39030	GTG		0.488	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		152	595	1	0	3.75851e-85	1	4.81663e-85	152	595					A	100208091	C	A	100208091	3	1	79	1	0	0	0	0	1	0	0	0	307	507	18	3	980	3	ADH1A	4	100208091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	100208091	90946185	5511	15828											
ADH1B	125	broad.mit.edu	37	chr4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaacatgggttattaacGcatccagtgaaaacttctta	7	7	1	1	rs147811380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGTTATTAACGCATCCAGTGA	0.343													.|||	4	0.000798722	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0031					ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(1033-1035)gCg>gTg		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	114	115	115		1034	2	0	4	dbSNP_134	115	0,8600		0,0,4300	no	missense	ADH1B	NM_000668.4	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	345/376	100231991	2,13004	2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100231991G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.1034C>T	4.37:g.100231991G>A	ENSP00000306606:p.Ala345Val					ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V	p.A345V			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	8	1101	-			345					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.1034C>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207604	0.06180	4.54E-4	0.0	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.06528	3.29;3.29	3.86	2.03	0.26663	GroES-like (1);	0.489617	0.22393	N	0.060641	T	0.05960	0.0155	L	0.49513	1.565	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.34129	-0.9841	10	0.56958	D	0.05	0.8131	3.2959	0.06966	0.0879:0.1493:0.4565:0.3063	.	332;305;345	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	V	345;305;332	ENSP00000306606:A345V;ENSP00000378351:A305V	ENSP00000306606:A345V	A	-	2	0	ADH1B	100451014	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	1.077000	0.30741	0.189000	0.20188	0.561000	0.74099	GCG		0.343	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		105	426	0	0	0	1	0	105	426					A	100231991	G	A	100231991	3	1	79	1	0	0	0	0	1	0	0	0	308	1087	38	1	101	1	ADH1B	4	100231991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23900	100231991	90922285	5512	15829											
ADH1B	125	broad.mit.edu	37	chr4	100232703	100232703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacagcccccttccaggtGcgtccagtcagtagcagcat	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	313					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTTCCAGGTGCGTCCAGTCA	0.438																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(937-939)cgC>cgT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						173	170	171					4																	100232703		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232703G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.939C>T	4.37:g.100232703G>A						ADH1B_ENST00000394887.3_Silent_p.R273R	p.R313R			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1006	-			313					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.939C>T	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		166	686	0	0	0	1	0	166	686					A	100232703	G	A	100232703	2	1	79	1	0	0	0	0	0	0	0	1	308	1306	46	2		2	ADH1B	4	100232703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712	100232703	90921573	5513	15830											
ADH7	131	broad.mit.edu	37	chr4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaataacttcaaaggtgtAtcccacgttgttgcctgtca	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000209665.4	-	6	1066	c.826T>C	c.(826-828)Tac>Cac	p.Y276H	ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H|ADH7_ENST00000437033.2_Missense_Mutation_p.Y264H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	276					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TCAAAGGTGTATCCCACGTTG	0.443																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(790-792)Tac>Cac		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						126	108	114					4																	100341725		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341725A>G	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.826T>C	4.37:g.100341725A>G	ENSP00000209665:p.Tyr276His					ADH7_ENST00000209665.4_Missense_Mutation_p.Y276H|ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H	p.Y264H			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1293	-			276					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.790T>C	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112927	0.56398	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.5	2.25	0.28309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.434279	0.25202	N	0.032361	T	0.30070	0.0753	M	0.72353	2.195	0.25964	N	0.982585	B	0.31193	0.312	P	0.47346	0.544	T	0.22730	-1.0208	10	0.51188	T	0.08	-26.601	8.9963	0.36055	0.9081:0.0:0.0918:0.0	.	276	P40394	ADH7_HUMAN	H	264;276;207;284	ENSP00000414254:Y264H;ENSP00000209665:Y276H;ENSP00000420613:Y207H;ENSP00000420269:Y284H	ENSP00000209665:Y276H	Y	-	1	0	ADH7	100560748	0.426000	0.25506	0.000000	0.03702	0.281000	0.26958	5.249000	0.65427	0.489000	0.27749	0.460000	0.39030	TAC		0.443	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		55	261	0	0	0	1	0	55	261					G	100341725	A	G	100341725	3	3	79	1	0	0	0	0	1	0	0	0	313	449	16	4	350	4	ADH7	4	100341725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109022	100341725	90812551	5514	15831											
ADH7	131	broad.mit.edu	37	chr4	100341936	100341936	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaagacgacgcaagtGgaaccaggtttgacctgtgg	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000209665.4	-	6	855	c.615C>A	c.(613-615)tcC>tcA	p.S205S	ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000482593.1_Silent_p.S136S|ADH7_ENST00000437033.2_Silent_p.S193S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	205					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CGACGCAAGTGGAACCAGGTT	0.473																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(577-579)tcC>tcA		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						67	58	61					4																	100341936		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341936G>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.615C>A	4.37:g.100341936G>T						ADH7_ENST00000209665.4_Silent_p.S205S|ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000482593.1_Silent_p.S136S	p.S193S			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1082	-			205					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.579C>A	CCDS34034.1																																																																																				0.473	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		35	162	1	0	2.42023e-17	1	2.67004e-17	35	162					T	100341936	G	T	100341936	2	4	79	1	0	0	0	0	0	0	0	1	313	1335	47	3		3	ADH7	4	100341936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211	100341936	90812340	5515	15832											
ADH7	131	broad.mit.edu	37	chr4	100349696	100349696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctctctacaatcccaGttgcctcatgtcccacaatc	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349696G>A	ENST00000209665.4	-	3	488	c.248C>T	c.(247-249)aCt>aTt	p.T83I	ADH7_ENST00000476959.1_Missense_Mutation_p.T91I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I|ADH7_ENST00000437033.2_Missense_Mutation_p.T71I	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	83				T -> R (in Ref. 11; AA sequence). {ECO:0000305}.	ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TACAATCCCAGTTGCCTCATG	0.433																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(211-213)aCt>aTt		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						266	218	234					4																	100349696		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349696G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.248C>T	4.37:g.100349696G>A	ENSP00000209665:p.Thr83Ile					ADH7_ENST00000209665.4_Missense_Mutation_p.T83I|ADH7_ENST00000476959.1_Missense_Mutation_p.T91I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I	p.T71I			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	3	715	-			83					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.212C>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831190	0.32329	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.24	-0.966	0.10320	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.322190	0.32868	N	0.005555	T	0.02119	0.0066	N	0.05199	-0.095	0.20638	N	0.999873	B	0.15719	0.014	B	0.19666	0.026	T	0.39761	-0.9598	10	0.87932	D	0	-30.7314	3.5526	0.07853	0.3167:0.0:0.411:0.2723	.	83	P40394	ADH7_HUMAN	I	71;83;14;91;14	ENSP00000414254:T71I;ENSP00000209665:T83I;ENSP00000420613:T14I;ENSP00000420269:T91I;ENSP00000420300:T14I	ENSP00000209665:T83I	T	-	2	0	ADH7	100568719	0.029000	0.19370	0.000000	0.03702	0.901000	0.52897	0.978000	0.29488	-0.173000	0.10761	0.655000	0.94253	ACT		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		16	867	0	0	0	1	0	16	867					A	100349696	G	A	100349696	3	1	79	1	0	0	0	0	1	0	0	0	313	1029	36	2	940	2	ADH7	4	100349696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7760	100349696	90804580	5516	15833											
ADH7	131	broad.mit.edu	37	chr4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcacatggtcatctgtgCgacagattcctgtggccaaa	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000209665.4	-	3	419	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000437033.2_Missense_Mutation_p.R48H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	60					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GTCATCTGTGCGACAGATTCC	0.413																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(142-144)cGc>cAc		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						195	162	173					4																	100349765		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349765C>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.179G>A	4.37:g.100349765C>T	ENSP00000209665:p.Arg60His					ADH7_ENST00000209665.4_Missense_Mutation_p.R60H|ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000482593.1_5'UTR	p.R48H			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	3	646	-			60					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.143G>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	3.540	-0.093892	0.07053	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.02682	4.2;4.2;4.2	4.02	0.0509	0.14296	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.514876	0.22398	N	0.060597	T	0.00695	0.0023	N	0.00339	-1.615	0.40885	D	0.98402	B	0.22080	0.064	B	0.17722	0.019	T	0.50499	-0.8821	10	0.02654	T	1	-0.7343	8.3891	0.32518	0.0:0.6467:0.0:0.3533	.	60	P40394	ADH7_HUMAN	H	48;60;68	ENSP00000414254:R48H;ENSP00000209665:R60H;ENSP00000420269:R68H	ENSP00000209665:R60H	R	-	2	0	ADH7	100568788	1.000000	0.71417	0.493000	0.27502	0.998000	0.95712	0.598000	0.24074	-0.246000	0.09611	0.655000	0.94253	CGC		0.413	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		40	583	0	0	0	1	0	40	583					T	100349765	C	T	100349765	3	4	79	1	0	0	0	0	1	0	0	0	313	768	27	1	1009	1	ADH7	4	100349765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	100349765	90804511	5517	15834											
RG9MTD2	93587	broad.mit.edu	37	chr4	100470276	100470276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagttcactgtagattcaGtgtgattttccttatcctgc	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100470276G>A	ENST00000273962.3	-	8	1301	c.989C>T	c.(988-990)aCt>aTt	p.T330I	TRMT10A_ENST00000394877.3_Missense_Mutation_p.T330I|TRMT10A_ENST00000394876.2_Missense_Mutation_p.T330I	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	330					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TGTAGATTCAGTGTGATTTTC	0.383																																						ENST00000273962.3																			0											c.(988-990)aCt>aTt		tRNA methyltransferase 10 homolog A (S. cerevisiae)							222	197	206					4																	100470276		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100470276G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.989C>T	4.37:g.100470276G>A	ENSP00000273962:p.Thr330Ile					TRMT10A_ENST00000394876.2_Missense_Mutation_p.T330I|TRMT10A_ENST00000394877.3_Missense_Mutation_p.T330I	p.T330I	NM_152292.4	NP_689505.1					8	1301	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.989C>T	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579851	0.28180	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18016	2.24;2.24;2.24	5.4	3.65	0.41850	.	2.068660	0.01640	N	0.023991	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.22977	-1.0201	10	0.56958	D	0.05	-0.0014	6.8365	0.23939	0.1592:0.1461:0.6947:0.0	.	330	Q8TBZ6	RG9D2_HUMAN	I	330	ENSP00000378343:T330I;ENSP00000273962:T330I;ENSP00000378342:T330I	ENSP00000273962:T330I	T	-	2	0	RG9MTD2	100689299	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.738000	0.26158	0.747000	0.32809	0.655000	0.94253	ACT		0.383	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		100	439	0	0	0	1	0	100	439					A	100470276	G	A	100470276	3	1	79	1	0	0	0	0	1	0	0	0	13322	1029	36	2	34	2	RG9MTD2	4	100470276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120511	100470276	90684000	5518	15835											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479236	100479236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagtgatcaaaactacaGtcaataataaggcgaagggt	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100479236G>A	ENST00000273962.3	-	3	630	c.318C>T	c.(316-318)gaC>gaT	p.D106D	TRMT10A_ENST00000394877.3_Silent_p.D106D|TRMT10A_ENST00000394876.2_Silent_p.D106D	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	106	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CAAAACTACAGTCAATAATAA	0.343																																						ENST00000273962.3																			0											c.(316-318)gaC>gaT		tRNA methyltransferase 10 homolog A (S. cerevisiae)							192	156	168					4																	100479236		2203	4300	6503	SO:0001819	synonymous_variant	93587							g.chr4:100479236G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.318C>T	4.37:g.100479236G>A						TRMT10A_ENST00000394876.2_Silent_p.D106D|TRMT10A_ENST00000394877.3_Silent_p.D106D	p.D106D	NM_152292.4	NP_689505.1					3	630	-								B2R8X7|Q9Y2T9	Silent	SNP	ENST00000273962.3	37	c.318C>T	CCDS3650.1																																																																																				0.343	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		28	142	0	0	0	1	0	28	142					A	100479236	G	A	100479236	2	1	79	1	0	0	0	0	0	0	0	1	13322	1020	36	2		2	RG9MTD2	4	100479236	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8960	100479236	90675040	5519	15836											
DAPP1	27071	broad.mit.edu	37	chr4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggctttaatgaattctcaTctttgaaggattttgtcaag	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000512369.1	+	3	369	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S101T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	101	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333																																						ENST00000296414.7																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(301-303)Tct>Act		dual adaptor of phosphotyrosine and 3-phosphoinositides							59	55	56					4																	100761522		1817	4078	5895	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100761522T>A	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.301T>A	4.37:g.100761522T>A	ENSP00000423602:p.Ser101Thr					DAPP1_ENST00000512369.1_Missense_Mutation_p.S101T	p.S101T			Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	3	382	+			101			SH2.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.301T>A	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473587	0.43942	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89681	-2.55;-2.55	5.55	4.32	0.51571	SH2 motif (5);	0.295543	0.34245	N	0.004132	T	0.78394	0.4276	N	0.21194	0.64	0.38763	D	0.954374	B;B;B	0.24426	0.103;0.003;0.001	B;B;B	0.23574	0.047;0.005;0.007	T	0.72265	-0.4344	10	0.15499	T	0.54	1.7998	8.2107	0.31481	0.3907:0.0:0.0:0.6093	.	101;101;101	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	101	ENSP00000296414:S101T;ENSP00000423602:S101T	ENSP00000296414:S101T	S	+	1	0	DAPP1	100980545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.132000	0.50523	2.117000	0.64856	0.533000	0.62120	TCT		0.333	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			22	97	0	0	0	1	0	22	97					A	100761522	T	A	100761522	3	1	79	1	0	0	0	0	1	0	0	0	4250	1435	50	5	311	5	DAPP1	4	100761522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	282286	100761522	90392754	5520	15837											
MAPKSP1	8649	broad.mit.edu	37	chr4	100805266	100805266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcaccaccaaaggtaaaCgattaaattgaaccacctaa	4	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100805266C>T	ENST00000499666.2	-	6	446	c.254G>A	c.(253-255)cGt>cAt	p.R85H	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78H	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	85					cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						CAAAGGTAAACGATTAAATTG	0.289																																						ENST00000499666.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(253-255)cGt>cAt		late endosomal/lysosomal adaptor, MAPK and MTOR activator 3							56	61	59					4																	100805266		2203	4299	6502	SO:0001583	missense	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100805266C>T	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"MEK partner 1"	603296	"mitogen-activated protein kinase kinase 1 interacting protein 1", "MAPK scaffold protein 1"	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.254G>A	4.37:g.100805266C>T	ENSP00000424183:p.Arg85His					LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78H	p.R85H	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN			6	446	-			85					B2R4A1|J3KMX4|Q9H364	Missense_Mutation	SNP	ENST00000499666.2	37	c.254G>A	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340133	0.60963	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.85	4.85	0.62838	.	0.054326	0.85682	D	0.000000	T	0.43299	0.1241	L	0.27053	0.805	0.80722	D	1	B;B	0.17465	0.011;0.022	B;B	0.09377	0.003;0.004	T	0.30966	-0.9960	9	0.40728	T	0.16	.	11.9349	0.52868	0.0:0.9203:0.0:0.0797	.	85;85	Q53FH6;Q9UHA4	.;LTOR3_HUMAN	H	85;78	.	ENSP00000226522:R78H	R	-	2	0	LAMTOR3	101024289	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.206000	0.65192	2.676000	0.91093	0.591000	0.81541	CGT		0.289	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970		52	176	0	0	0	1	0	52	176					T	100805266	C	T	100805266	3	4	79	1	0	0	0	0	1	0	0	0	9334	536	19	1	128	1	MAPKSP1	4	100805266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43744	100805266	90349010	5521	15838											
H2AFZ	3015	broad.mit.edu	37	chr4	100870520	100870520	+	Silent	SNP	T	T	C													gtcgtcctagattttaggtgTcgatgaatacggcccactgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	35					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATTTTAGGTGTCGATGAATAC	0.483											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(103-105)cgA>cgG		H2A histone family, member Z							60	60	60					4																	100870520		2203	4300	6503	SO:0001819	synonymous_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870520T>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.105A>G	4.37:g.100870520T>C			OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	H2AFZ_ENST00000529158.1_5'UTR	p.R35R	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	322	-			35					B2RD56|P17317|Q6I9U0	Silent	SNP	ENST00000296417.5	37	c.105A>G	CCDS3654.1																																																																																				0.483	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		25	186	0	0	0	1	0	25	186					C	100870520	T	C	100870520	2	2	79	1	0	0	0	0	0	0	0	1	6961	1654	58	4		4	H2AFZ	4	100870520	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65254	100870520	90283756	5522	15839	95	2									
H2AFZ	3015	broad.mit.edu	37	chr4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T													attttaggtgtcgatgaataCggcccactgggaacttaaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	32					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(94-96)cGt>cAt		H2A histone family, member Z							57	57	57					4																	100870530		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870530C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.95G>A	4.37:g.100870530C>T	ENSP00000296417:p.Arg32His		OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	H2AFZ_ENST00000529158.1_5'UTR	p.R32H	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	312	-			32					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.95G>A	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369968	0.61624	.	.	ENSG00000164032	ENST00000296417	D	0.85258	-1.96	3.62	3.62	0.41486	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96111	3.77	0.80722	D	1	B	0.27450	0.179	B	0.13407	0.009	D	0.90583	0.4531	10	0.62326	D	0.03	-3.3569	15.4655	0.75397	0.0:1.0:0.0:0.0	.	32	P0C0S5	H2AZ_HUMAN	H	32	ENSP00000296417:R32H	ENSP00000296417:R32H	R	-	2	0	H2AFZ	101089553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.107000	0.64603	1.853000	0.53794	0.555000	0.69702	CGT		0.498	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		31	175	0	0	0	1	0	31	175					T	100870530	C	T	100870530	3	4	79	1	0	0	0	0	1	0	0	0	6961	536	19	1	303	1	H2AFZ	4	100870530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	100870530	90283746	5523	15840	95	2									
H2AFZ	3015	broad.mit.edu	37	chr4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcctttgtcttggcctttCcggagtcctttccagcctta	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	11	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(31-33)gGa>gAa		H2A histone family, member Z							71	80	77					4																	100870869		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870869C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.32G>A	4.37:g.100870869C>T	ENSP00000296417:p.Gly11Glu					H2AFZ_ENST00000529158.1_5'UTR	p.G11E	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	249	-			11			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.32G>A	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408380	0.62399	.	.	ENSG00000164032	ENST00000296417	D	0.84730	-1.89	3.09	1.24	0.21308	Histone-fold (2);Histone H2A (1);	0.051378	0.85682	D	0.000000	D	0.83298	0.5224	M	0.83012	2.62	0.54753	D	0.999985	B	0.17038	0.02	B	0.04013	0.001	T	0.79303	-0.1859	10	0.59425	D	0.04	-3.6892	8.7116	0.34387	0.0:0.8018:0.0:0.1982	.	11	P0C0S5	H2AZ_HUMAN	E	11	ENSP00000296417:G11E	ENSP00000296417:G11E	G	-	2	0	H2AFZ	101089892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	0.507000	0.28148	0.455000	0.32223	GGA		0.587	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		107	531	0	0	0	1	0	107	531					T	100870869	C	T	100870869	3	4	79	1	0	0	0	0	1	0	0	0	6961	855	30	2	370	2	H2AFZ	4	100870869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	100870869	90283407	5524	15841											
PPP3CA	5530	broad.mit.edu	37	chr4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctattactgccattgctgTccgtgccgttagtctctgag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	511					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCATTGCTGTCCGTGCCGTT	0.458																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1531-1533)gAc>gGc		protein phosphatase 3, catalytic subunit, alpha isozyme							275	254	261					4																	101947056		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947056T>C		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1532A>G	4.37:g.101947056T>C	ENSP00000378323:p.Asp511Gly					PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G	p.D511G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2215	-			511					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1532A>G	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055917	0.36277	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47528	0.84;2.42;2.37;2.41;2.18;2.44	6.06	6.06	0.98353	.	0.055071	0.64402	D	0.000001	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P;P;B;B	0.40534	0.455;0.72;0.455;0.59;0.247;0.247	B;B;B;B;B;B	0.43536	0.114;0.423;0.163;0.228;0.125;0.163	T	0.16958	-1.0385	10	0.09843	T	0.71	-11.4256	16.6154	0.84909	0.0:0.0:0.0:1.0	.	511;279;459;501;413;444	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	279;511;459;501;413;444	ENSP00000422781:D279G;ENSP00000378323:D511G;ENSP00000320580:D459G;ENSP00000378322:D501G;ENSP00000422990:D413G;ENSP00000429350:D444G	ENSP00000320580:D459G	D	-	2	0	PPP3CA	102166079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.315000	0.78130	0.533000	0.62120	GAC		0.458	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		163	746	0	0	0	1	0	163	746					C	101947056	T	C	101947056	3	2	79	1	0	0	0	0	1	0	0	0	12444	1667	58	4	37	4	PPP3CA	4	101947056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1076187	101947056	89207220	5525	15842											
PPP3CA	5530	broad.mit.edu	37	chr4	102117166	102117166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcaacactctcttccaGccttccctccttcataagat	3	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	56	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCTCTTCCAGCCTTCCCTCC	0.423																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(166-168)Ctg>Ttg		protein phosphatase 3, catalytic subunit, alpha isozyme							139	140	139					4																	102117166		2203	4300	6503	SO:0001819	synonymous_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102117166G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.166C>T	4.37:g.102117166G>A						PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron	p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	2	849	-			56			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	c.166C>T	CCDS34037.1																																																																																				0.423	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		70	319	0	0	0	1	0	70	319					A	102117166	G	A	102117166	2	1	79	1	0	0	0	0	0	0	0	1	12444	962	34	2		2	PPP3CA	4	102117166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170110	102117166	89037110	5526	15843											
BANK1	55024	broad.mit.edu	37	chr4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagactacatctctgTaatccagagtatcatattca	5	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000322953.4	+	2	720	c.446T>C	c.(445-447)gTa>gCa	p.V149A	BANK1_ENST00000504592.1_Missense_Mutation_p.V134A|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	149	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACATCTCTGTAATCCAGAGT	0.323																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(400-402)gTa>gCa		B-cell scaffold protein with ankyrin repeats 1							55	60	58					4																	102751340		2193	4297	6490	SO:0001583	missense	55024				B cell activation			g.chr4:102751340T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.446T>C	4.37:g.102751340T>C	ENSP00000320509:p.Val149Ala					BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000322953.4_Missense_Mutation_p.V149A|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron	p.V134A			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	6	819	+		Hepatocellular(203;0.217)	149			Interaction with ITPR2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.401T>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896933	0.33535	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.10005	2.92;2.92;2.92	5.32	5.32	0.75619	.	0.424012	0.20636	N	0.088481	T	0.19446	0.0467	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.06570	-1.0819	10	0.15499	T	0.54	.	14.4797	0.67573	0.0:0.0:0.0:1.0	.	149;134	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	A	134;149;119	ENSP00000421443:V134A;ENSP00000320509:V149A;ENSP00000388817:V119A	ENSP00000320509:V149A	V	+	2	0	BANK1	102970363	0.923000	0.31300	0.808000	0.32385	0.974000	0.67602	2.253000	0.43205	2.006000	0.58801	0.528000	0.53228	GTA		0.323	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		72	280	0	0	0	1	0	72	280					C	102751340	T	C	102751340	3	2	79	1	0	0	0	0	1	0	0	0	1310	1638	57	4	452	4	BANK1	4	102751340	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	634174	102751340	88402936	5527	15844											
NFKB1	4790	broad.mit.edu	37	chr4	103534584	103534584	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctttctttctcacaggtCtctgggggtacagtcagaga	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000505458.1	+	23	2869	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	NFKB1_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000226574.4_Silent_p.V865V|NFKB1_ENST00000600343.1_Silent_p.V684V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	864	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTCACAGGTCTCTGGGGGTA	0.557																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2593-2595)gtC>gtA		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						54	51	52					4																	103534584		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103534584C>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2592C>A	4.37:g.103534584C>A						NFKB1_ENST00000505458.1_Silent_p.V864V|NFKB1_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000600343.1_Silent_p.V684V	p.V865V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	23	3062	+		Hepatocellular(203;0.217)	864			Death.|Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.2595C>A	CCDS54783.1																																																																																				0.557	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			46	274	1	0	2.29192e-23	1	2.60423e-23	46	274					A	103534584	C	A	103534584	2	1	79	1	0	0	0	0	0	0	0	1	10417	900	32	3		3	NFKB1	4	103534584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	783244	103534584	87619692	5528	15845											
MANBA	4126	broad.mit.edu	37	chr4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcacttgaccaccaactggCtttgagctgacaacatcaaa	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	245					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CACCAACTGGCTTTGAGCTGA	0.363																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(733-735)aaG>aaT		mannosidase, beta A, lysosomal							237	205	216					4																	103611867		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103611867C>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.735G>T	4.37:g.103611867C>A	ENSP00000226578:p.Lys245Asn					MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	p.K245N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	6	834	-		Hepatocellular(203;0.217)	245					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.735G>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539632	0.27563	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.59224	0.28;0.28	5.02	3.14	0.36123	.	0.329652	0.33327	N	0.005035	T	0.53883	0.1824	M	0.76838	2.35	0.34998	D	0.755714	P;P	0.45902	0.868;0.543	B;B	0.39660	0.306;0.265	T	0.65319	-0.6197	10	0.27785	T	0.31	-20.7191	10.1461	0.42764	0.0:0.8213:0.0:0.1787	.	188;245	E9PFW2;O00462	.;MANBA_HUMAN	N	245;188	ENSP00000226578:K245N;ENSP00000427322:K188N	ENSP00000226578:K245N	K	-	3	2	MANBA	103830915	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	1.643000	0.37217	1.337000	0.45525	0.650000	0.86243	AAG		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			147	661	1	0	1.03592e-72	1	1.31811e-72	147	661					A	103611867	C	A	103611867	3	1	79	1	0	0	0	0	1	0	0	0	9260	796	28	3	1952	3	MANBA	4	103611867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77283	103611867	87542409	5529	15846											
NHEDC2	133308	broad.mit.edu	37	chr4	103947602	103947602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctgcagaagcctgggGcccagtaaaccaataagcag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103947602G>A	ENST00000394785.3	-	12	2170	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_Missense_Mutation_p.P411S|SLC9B2_ENST00000362026.3_Silent_p.G513G|SLC9B2_ENST00000503230.1_Silent_p.G456G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	513					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GAAGCCTGGGGCCCAGTAAAC	0.418																																						ENST00000503103.1																			0											c.(1231-1233)Ccc>Tcc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							104	105	104					4																	103947602		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947602G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1539C>T	4.37:g.103947602G>A						SLC9B2_ENST00000394785.3_Silent_p.G513G|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Silent_p.G513G|SLC9B2_ENST00000503230.1_Silent_p.G456G	p.P411S			Q86UD5	NHDC2_HUMAN			10	1421	-			0					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1231C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499285	0.44455	.	.	ENSG00000164038	ENST00000503103	T	0.25749	1.78	5.13	2.38	0.29361	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.14023	0.01	T	0.20042	-1.0287	8	0.72032	D	0.01	-11.9595	0.8158	0.01102	0.2352:0.1724:0.3751:0.2173	.	411	B7Z676	.	S	411	ENSP00000425385:P411S	ENSP00000425385:P411S	P	-	1	0	SLC9B2	104167051	0.087000	0.21565	1.000000	0.80357	0.970000	0.65996	-0.645000	0.05409	0.517000	0.28361	0.585000	0.79938	CCC		0.418	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		107	444	0	0	0	1	0	107	444					A	103947602	G	A	103947602	2	1	79	1	0	0	0	0	0	0	0	1	10443	1190	42	2		2	NHEDC2	4	103947602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335735	103947602	87206674	5530	15847											
NHEDC2	133308	broad.mit.edu	37	chr4	103970160	103970160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagtcttacacaaacgccCtttaacttcttcagggcctg	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103970160C>A	ENST00000394785.3	-	6	1234	c.603G>T	c.(601-603)aaG>aaT	p.K201N	SLC9B2_ENST00000339611.4_Missense_Mutation_p.K201N|SLC9B2_ENST00000503103.1_Missense_Mutation_p.K144N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K144N	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	201					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CACAAACGCCCTTTAACTTCT	0.448																																						ENST00000394785.3																			0											c.(601-603)aaG>aaT		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							97	84	89					4																	103970160		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103970160C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.603G>T	4.37:g.103970160C>A	ENSP00000378265:p.Lys201Asn					SLC9B2_ENST00000339611.4_Missense_Mutation_p.K201N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K144N|SLC9B2_ENST00000503103.1_Missense_Mutation_p.K144N	p.K201N	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			6	1234	-			201					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.603G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385091	0.42308	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.39	0.641	0.17759	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.83223	2.63	0.41958	D	0.990692	D;D;D;D	0.76494	0.998;0.987;0.999;0.997	D;D;D;D	0.73708	0.966;0.955;0.981;0.918	T	0.20438	-1.0275	10	0.27785	T	0.31	-8.6937	11.46	0.50204	0.0:0.5917:0.0:0.4083	.	144;144;201;201	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	N	201;101;201;201;144;144	ENSP00000354574:K201N;ENSP00000421943:K101N;ENSP00000345241:K201N;ENSP00000378265:K201N;ENSP00000425385:K144N;ENSP00000422477:K144N	ENSP00000345241:K201N	K	-	3	2	SLC9B2	104189609	0.999000	0.42202	0.999000	0.59377	0.629000	0.37895	0.605000	0.24179	0.079000	0.16929	0.591000	0.81541	AAG		0.448	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		17	142	1	0	2.35188e-11	1	2.50879e-11	17	142					A	103970160	C	A	103970160	3	1	79	1	0	0	0	0	1	0	0	0	10443	680	24	3	1038	3	NHEDC2	4	103970160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22558	103970160	87184116	5531	15848											
NHEDC2	133308	broad.mit.edu	37	chr4	103971468	103971468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcaaagaggaagaccActtgtgcttgatctgcacat	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103971468A>G	ENST00000394785.3	-	5	1145	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	SLC9B2_ENST00000339611.4_Missense_Mutation_p.W172R|SLC9B2_ENST00000503103.1_Missense_Mutation_p.W115R|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W115R	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	172					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GAGGAAGACCACTTGTGCTTG	0.403																																						ENST00000394785.3																			0											c.(514-516)Tgg>Cgg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							115	91	99					4																	103971468		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103971468A>G	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.514T>C	4.37:g.103971468A>G	ENSP00000378265:p.Trp172Arg					SLC9B2_ENST00000339611.4_Missense_Mutation_p.W172R|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W115R|SLC9B2_ENST00000503103.1_Missense_Mutation_p.W115R	p.W172R	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			5	1145	-			172					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.514T>C	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104743	0.77096	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.82517	2.595	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.994;0.996;0.992	T	0.40270	-0.9572	10	0.30078	T	0.28	-6.523	15.0604	0.71947	1.0:0.0:0.0:0.0	.	115;115;172;172	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	R	172;72;172;172;115;115	ENSP00000354574:W172R;ENSP00000421943:W72R;ENSP00000345241:W172R;ENSP00000378265:W172R;ENSP00000425385:W115R;ENSP00000422477:W115R	ENSP00000345241:W172R	W	-	1	0	SLC9B2	104190917	1.000000	0.71417	0.923000	0.36655	0.806000	0.45545	8.156000	0.89645	2.008000	0.58898	0.482000	0.46254	TGG		0.403	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		58	272	0	0	0	1	0	58	272					G	103971468	A	G	103971468	3	3	79	1	0	0	0	0	1	0	0	0	10443	159	6	4	1131	4	NHEDC2	4	103971468	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1308	103971468	87182808	5532	15849											
BDH2	56898	broad.mit.edu	37	chr4	104003289	104003289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatttcttctgcagttgcGaatcttcccgtcttttgtct	7	11	5	0	rs181237399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F211F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463																																						ENST00000296424.4																			1	Substitution - coding silent(1)	p.F211F(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(631-633)ttC>ttT		3-hydroxybutyrate dehydrogenase, type 2		G		1,4405	2.1+/-5.4	0,1,2202	142	124	130		633	1.1	1	4		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BDH2	NM_020139.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		211/246	104003289	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104003289G>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.633C>T	4.37:g.104003289G>A							p.F211F	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	9	753	-		Hepatocellular(203;0.217)	211					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	c.633C>T	CCDS3663.1																																																																																				0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		38	168	0	0	0	1	0	38	168					A	104003289	G	A	104003289	2	1	79	1	0	0	0	0	0	0	0	1	1392	1049	37	1		1	BDH2	4	104003289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31821	104003289	87150987	5533	15850											
CENPE	1062	broad.mit.edu	37	chr4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgaattttccagctctcGaattttctattagaaaaagc	6	8	2	2	rs267599968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000265148.3	-	44	7239	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2384	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7150-7152)Cga>Tga		centromere protein E, 312kDa							82	71	75					4																	104041484		2202	4297	6499	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041484G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7150C>T	4.37:g.104041484G>A	ENSP00000265148:p.Arg2384*					CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	p.R2384*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7239	-			2384			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.7150C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	46	12.817774	0.99698	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.2376	0.43292	0.0:0.0:0.8017:0.1982	.	.	.	.	X	2384;2263	.	ENSP00000265148:R2384X	R	-	1	2	CENPE	104260933	1.000000	0.71417	0.916000	0.36221	0.067000	0.16453	1.925000	0.40074	1.011000	0.39340	0.655000	0.94253	CGA		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	123	0	0	0	1	0	24	123					A	104041484	G	A	104041484	4	1	79	1	0	0	0	0	0	1	0	0	3239	1066	37	1	979	1	CENPE	4	104041484	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38195	104041484	87112792	5534	15851											
CENPE	1062	broad.mit.edu	37	chr4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgttttttatctatgCcaaccatctaaaacataaac	2	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000265148.3	-	25	3130	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1014					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3040-3042)gGc>gAc		centromere protein E, 312kDa							89	84	85					4																	104074400		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104074400C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3041G>A	4.37:g.104074400C>T	ENSP00000265148:p.Gly1014Asp					CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	p.G1014D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	25	3130	-			1014					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3041G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475696	0.04414	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	-8.11	0.01082	.	.	.	.	.	D	0.83797	0.5332	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.70447	-0.4869	9	0.06625	T	0.88	.	10.9198	0.47158	0.0:0.1096:0.1993:0.6911	.	989;1014	Q02224-3;Q02224	.;CENPE_HUMAN	D	1014;1014;989;1014	ENSP00000265148:G1014D;ENSP00000369365:G989D;ENSP00000423981:G1014D	ENSP00000265148:G1014D	G	-	2	0	CENPE	104293849	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-3.588000	0.00422	-2.091000	0.00858	-1.051000	0.02340	GGC		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	157	0	0	0	1	0	25	157					T	104074400	C	T	104074400	3	4	79	1	0	0	0	0	1	0	0	0	3239	739	26	2	5164	2	CENPE	4	104074400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32916	104074400	87079876	5535	15852											
TACR3	6870	broad.mit.edu	37	chr4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacttgtcacaggtatctcCtgggatttctcctccccaga	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	281					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGGTATCTCCTGGGATTTCT	0.403																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(841-843)Gga>Tga		tachykinin receptor 3							139	138	138					4																	104577398		2203	4300	6503	SO:0001587	stop_gained	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577398C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.841G>T	4.37:g.104577398C>A	ENSP00000303325:p.Gly281*						p.G281*	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	981	-		Hepatocellular(203;0.217)	281					Q0P510	Nonsense_Mutation	SNP	ENST00000304883.2	37	c.841G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817814	0.98507	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000303325:G281X	G	-	1	0	TACR3	104796847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	GGA		0.403	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		96	401	1	0	1.16068e-44	1	1.42057e-44	96	401					A	104577398	C	A	104577398	4	1	79	1	0	0	0	0	0	1	0	0	15559	690	24	3	568	3	TACR3	4	104577398	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502998	104577398	86576878	5536	15853											
CXXC4	80319	broad.mit.edu	37	chr4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcatgacgatgacccctgGaggtaatgagatgcccccta	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000426831.1	-	1	252	c.238C>T	c.(238-240)Cca>Tca	p.P80S	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.P249S|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	80					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGACCCCTGGAGGTAATGAG	0.577																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(745-747)Cca>Tca		CXXC finger protein 4							82	91	88					4																	105412215		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412215G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.238C>T	4.37:g.105412215G>A	ENSP00000412267:p.Pro80Ser					CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.P80S|AC004053.1_ENST00000500179.1_RNA	p.P249S	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1195	-			80						Missense_Mutation	SNP	ENST00000426831.1	37	c.745C>T		.	.	.	.	.	.	.	.	.	.	G	17.96	3.517068	0.64634	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.52	4.52	0.55395	.	0.379473	0.08080	U	1.000000	T	0.56187	0.1968	N	0.08118	0	0.54753	D	0.999983	D	0.63880	0.993	D	0.70227	0.968	T	0.56643	-0.7945	9	0.45353	T	0.12	-5.7325	15.454	0.75299	0.0:0.0:1.0:0.0	.	80	Q9H2H0	CXXC4_HUMAN	S	80	.	ENSP00000378248:P80S	P	-	1	0	CXXC4	105631664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.567000	0.90737	2.241000	0.73720	0.479000	0.44913	CCA		0.577	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		27	603	0	0	0	1	0	27	603					A	105412215	G	A	105412215	3	1	79	1	0	0	0	0	1	0	0	0	4109	1174	41	2	366	2	CXXC4	4	105412215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834817	105412215	85742061	5537	15854											
TET2	54790	broad.mit.edu	37	chr4	106155474	106155474	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggagaaagacgtaacttCggggtaagccaagaaagaaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000540549.1	+	3	1235	c.375C>T	c.(373-375)ttC>ttT	p.F125F	TET2_ENST00000513237.1_Silent_p.F146F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F125fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACGTAACTTCGGGGTAAGCC	0.418			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.F125fs*3(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(436-438)ttC>ttT		tet methylcytosine dioxygenase 2							58	57	58					4																	106155474		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155474C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.375C>T	4.37:g.106155474C>T						TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000540549.1_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F	p.F146F			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1235	+		Myeloproliferative disorder(5;0.0393)	125					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.438C>T	CCDS47120.1																																																																																				0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		10	248	0	0	0	1	0	10	248					T	106155474	C	T	106155474	2	4	79	1	0	0	0	0	0	0	0	1	15822	883	31	1		1	TET2	4	106155474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	743259	106155474	84998802	5538	15855											
TET2	54790	broad.mit.edu	37	chr4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcatcactgccatcaattCttcagtatcaacccaatctc	4	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000540549.1	+	3	2628	c.1768C>A	c.(1768-1770)Ctt>Att	p.L590I	TET2_ENST00000513237.1_Missense_Mutation_p.L611I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	590					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCATCAATTCTTCAGTATCA	0.463			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1831-1833)Ctt>Att		tet methylcytosine dioxygenase 2							71	72	72					4																	106156867		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156867C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1768C>A	4.37:g.106156867C>A	ENSP00000442788:p.Leu590Ile					TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000540549.1_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I	p.L611I			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2628	+		Myeloproliferative disorder(5;0.0393)	590			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1831C>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902755	0.33628	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	15.888400	0.00166	N	0.000011	T	0.45094	0.1325	L	0.34521	1.04	0.33163	D	0.547245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.946;0.946;0.982	T	0.38887	-0.9640	10	0.56958	D	0.05	.	17.7861	0.88538	0.0:1.0:0.0:0.0	.	611;590;590	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	590;590;590;611;590;590;590;590	ENSP00000306705:L590I;ENSP00000442788:L590I;ENSP00000442867:L590I;ENSP00000425443:L611I;ENSP00000369351:L590I;ENSP00000378245:L590I;ENSP00000391448:L590I	ENSP00000265149:L590I	L	+	1	0	TET2	106376316	0.996000	0.38824	0.038000	0.18304	0.044000	0.14063	3.588000	0.53964	2.631000	0.89168	0.650000	0.86243	CTT		0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		34	331	1	0	6.00712e-18	1	6.65163e-18	34	331					A	106156867	C	A	106156867	3	1	79	1	0	0	0	0	1	0	0	0	15822	913	32	3	1770	3	TET2	4	106156867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	106156867	84997409	5539	15856											
GSTCD	79807	broad.mit.edu	37	chr4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctgaccagcccccaActatacctgtagaaatacta	4	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	171	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(511-513)Act>Gct		glutathione S-transferase, C-terminal domain containing							84	95	92					4																	106640301		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640301A>G	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.511A>G	4.37:g.106640301A>G	ENSP00000422354:p.Thr171Ala					GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A	p.T171A			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	731	+		Hepatocellular(203;0.217)	171			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.511A>G	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202745	0.01581	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	-10.3	0.00346	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.899655	0.09733	N	0.762952	T	0.18923	0.0454	L	0.28504	0.86	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.17228	-1.0376	9	0.10111	T	0.7	-14.6755	6.6856	0.23144	0.3021:0.0757:0.4727:0.1494	.	84;171	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	A	84;84;171;171;171	.	ENSP00000353695:T171A	T	+	1	0	GSTCD	106859750	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.378000	0.02556	-1.941000	0.01042	-0.417000	0.06048	ACT		0.423	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		143	491	0	0	0	1	0	143	491					G	106640301	A	G	106640301	3	3	79	1	0	0	0	0	1	0	0	0	6865	43	2	4	517	4	GSTCD	4	106640301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	483434	106640301	84513975	5540	15857											
GSTCD	79807	broad.mit.edu	37	chr4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagcaaggtccacacacaGgaaacatctgaagggttgga	12	8	1	2	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	224	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(670-672)caG>caT		glutathione S-transferase, C-terminal domain containing							110	115	113					4																	106640462		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640462G>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.672G>T	4.37:g.106640462G>T	ENSP00000422354:p.Gln224His					GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H	p.Q224H			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	892	+		Hepatocellular(203;0.217)	224			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.672G>T	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219458	0.22373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.0	1.14	0.20703	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	1.077750	0.07016	N	0.825997	T	0.30070	0.0753	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.26573	-1.0099	9	0.42905	T	0.14	-7.8221	4.501	0.11863	0.2714:0.3228:0.4057:0.0	.	137;224	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	H	137;137;224;224;224	.	ENSP00000353695:Q224H	Q	+	3	2	GSTCD	106859911	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.497000	0.22514	0.250000	0.21479	0.557000	0.71058	CAG		0.483	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		67	349	1	0	1.69475e-38	1	2.04315e-38	67	349					T	106640462	G	T	106640462	3	4	79	1	0	0	0	0	1	0	0	0	6865	991	35	3	678	3	GSTCD	4	106640462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	106640462	84513814	5541	15858											
NPNT	255743	broad.mit.edu	37	chr4	106858269	106858269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggatatatgctcatgccGgatggttcctgctcaagtat	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(367-369)ccG>ccA		nephronectin							171	140	150					4																	106858269		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858269G>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.369G>A	4.37:g.106858269G>A						NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000427316.2_Silent_p.P153P	p.P123P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	585	+		Hepatocellular(203;0.217)	123			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.369G>A	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901179	0.17760	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-4.08	0.03963	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	1.5229	0.02519	0.4598:0.199:0.1508:0.1904	.	.	.	.	R	100	.	.	G	+	1	0	NPNT	107077718	0.005000	0.15991	0.965000	0.40720	0.970000	0.65996	-1.179000	0.03090	-0.777000	0.04572	-0.165000	0.13383	GGA		0.468	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		121	478	0	0	0	1	0	121	478					A	106858269	G	A	106858269	2	1	79	1	0	0	0	0	0	0	0	1	10632	1103	39	1		1	NPNT	4	106858269	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217807	106858269	84296007	5542	15859											
TBCK	93627	broad.mit.edu	37	chr4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaccatgctcttcaGccagaactattaaagtgtca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(688-690)gCt>gAt		TBC1 domain containing kinase							81	80	81					4																	107170109		2202	4299	6501	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107170109G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.689C>A	4.37:g.107170109G>T	ENSP00000273980:p.Ala230Asp					TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D	p.A230D			Q8TEA7	TBCK_HUMAN			9	1136	-			230			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.689C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714128	0.89112	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.19685	0.0473	L	0.46741	1.465	0.80722	D	1	P;P;P	0.50272	0.933;0.828;0.917	P;B;P	0.58266	0.836;0.394;0.747	T	0.00053	-1.2186	10	0.72032	D	0.01	.	14.8371	0.70192	0.0:0.1436:0.8564:0.0	.	230;191;167	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	D	230;230;167;191;230	ENSP00000273980:A230D;ENSP00000405847:A230D;ENSP00000355338:A167D;ENSP00000378196:A191D;ENSP00000378198:A230D	ENSP00000273980:A230D	A	-	2	0	TBCK	107389558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.180000	0.77674	2.547000	0.85894	0.650000	0.86243	GCT		0.313	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		33	125	1	0	2.85442e-18	1	3.16582e-18	33	125					T	107170109	G	T	107170109	3	4	79	1	0	0	0	0	1	0	0	0	15688	971	34	3	2068	3	TBCK	4	107170109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311840	107170109	83984167	5543	15860											
AIMP1	9255	broad.mit.edu	37	chr4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagacgaaaagaaagCgaaagagaaaattgaaaaga	11	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000442366.1	+	4	420	c.368C>T	c.(367-369)gCg>gTg	p.A123V	AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000394701.4_Missense_Mutation_p.A147V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	123	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAAAGAAAGCGAAAGAGAAA	0.328																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(439-441)gCg>gTg		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							50	48	48					4																	107249377		2202	4300	6502	SO:0001583	missense	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107249377C>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.368C>T	4.37:g.107249377C>T	ENSP00000405248:p.Ala123Val					AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000442366.1_Missense_Mutation_p.A123V	p.A147V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			4	481	+			123			Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	c.440C>T	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749678	0.30955	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.24723	1.99;1.84;1.84;1.84	5.07	-1.73	0.08081	.	1.072360	0.07135	N	0.846376	T	0.08891	0.0220	N	0.03281	-0.365	0.23056	N	0.998362	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29397	-1.0013	10	0.35671	T	0.21	-16.5534	0.4856	0.00555	0.3365:0.2794:0.1302:0.2539	.	123;123	B4DNK3;Q12904	.;AIMP1_HUMAN	V	123;123;123;123;147	ENSP00000423681:A123V;ENSP00000405248:A123V;ENSP00000350699:A123V;ENSP00000378191:A147V	ENSP00000350699:A123V	A	+	2	0	AIMP1	107468826	0.879000	0.30193	0.880000	0.34516	0.577000	0.36160	0.166000	0.16583	0.001000	0.14605	0.655000	0.94253	GCG		0.328	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		10	135	0	0	0	1	0	10	135					T	107249377	C	T	107249377	3	4	79	1	0	0	0	0	1	0	0	0	433	768	27	1	454	1	AIMP1	4	107249377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79268	107249377	83904899	5544	15861											
PAPSS1	9061	broad.mit.edu	37	chr4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaaccttcaggtggtTtctggccttctcgagcaagt	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	600					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCAGGTGGTTTCTGGCCTTC	0.423																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1798-1800)aAa>aCa		3'-phosphoadenosine 5'-phosphosulfate synthase 1							120	110	113					4																	108535481		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108535481T>G	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1799A>C	4.37:g.108535481T>G	ENSP00000265174:p.Lys600Thr						p.K600T	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	12	2071	-		Hepatocellular(203;0.217)	600					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1799A>C	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854642	0.51376	.	.	ENSG00000138801	ENST00000265174	T	0.30714	1.52	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.041594	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02368	-0.58	0.46609	D	0.999125	B	0.11235	0.004	B	0.20184	0.028	T	0.18023	-1.0350	10	0.22109	T	0.4	-24.0308	16.8061	0.85666	0.0:0.0:0.0:1.0	.	600	O43252	PAPS1_HUMAN	T	600	ENSP00000265174:K600T	ENSP00000265174:K600T	K	-	2	0	PAPSS1	108754930	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.642000	0.67888	2.367000	0.80283	0.528000	0.53228	AAA		0.423	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			91	364	0	0	0	1	0	91	364					G	108535481	T	G	108535481	3	3	79	1	0	0	0	0	1	0	0	0	11476	1841	64	4	79	4	PAPSS1	4	108535481	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1286104	108535481	82618795	5545	15862											
PAPSS1	9061	broad.mit.edu	37	chr4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaccatccagagtgtaGcatggaataccatgacaaac	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	83					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGAGTGTAGCATGGAATAC	0.443																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(247-249)tgC>tgA		3'-phosphoadenosine 5'-phosphosulfate synthase 1							116	104	108					4																	108615089		2203	4300	6503	SO:0001587	stop_gained	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108615089G>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.249C>A	4.37:g.108615089G>T	ENSP00000265174:p.Cys83*					PAPSS1_ENST00000511304.1_Intron	p.C83*	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	3	521	-		Hepatocellular(203;0.217)	83					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Nonsense_Mutation	SNP	ENST00000265174.4	37	c.249C>A	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	38	6.966792	0.97967	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.2707	7.7654	0.28976	0.3465:0.0:0.6535:0.0	.	.	.	.	X	83	.	ENSP00000265174:C83X	C	-	3	2	PAPSS1	108834538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.722000	0.47269	0.633000	0.30452	0.556000	0.70494	TGC		0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			40	225	1	0	6.2361e-21	1	7.00342e-21	40	225					T	108615089	G	T	108615089	4	4	79	1	0	0	0	0	0	1	0	0	11476	963	34	3	1665	3	PAPSS1	4	108615089	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79608	108615089	82539187	5546	15863											
CYP2U1	113612	broad.mit.edu	37	chr4	108866490	108866490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccctttggaccatttaaGgaattaagacaaattgaaaa	6	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108866490G>T	ENST00000332884.6	+	2	1130	c.855G>T	c.(853-855)aaG>aaT	p.K285N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	285					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GACCATTTAAGGAATTAAGAC	0.393																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(853-855)aaG>aaT		cytochrome P450, family 2, subfamily U, polypeptide 1							70	72	71					4																	108866490		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866490G>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.855G>T	4.37:g.108866490G>T	ENSP00000333212:p.Lys285Asn					CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N|RP11-286E11.1_ENST00000513071.1_RNA	p.K285N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1130	+		Hepatocellular(203;0.217)	285					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.855G>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240036	0.58995	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.71103	-0.54;-0.54	5.78	3.04	0.35103	.	0.288881	0.42821	D	0.000641	T	0.57286	0.2043	L	0.41906	1.305	0.52099	D	0.999946	B	0.25719	0.132	B	0.29353	0.101	T	0.39542	-0.9609	10	0.11794	T	0.64	.	9.2284	0.37421	0.3069:0.0:0.6931:0.0	.	285	Q7Z449	CP2U1_HUMAN	N	285;242;76	ENSP00000333212:K285N;ENSP00000423667:K76N	ENSP00000333212:K285N	K	+	3	2	CYP2U1	109085939	1.000000	0.71417	0.437000	0.26809	0.997000	0.91878	1.111000	0.31159	0.319000	0.23209	0.563000	0.77884	AAG		0.393	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		13	359	1	0	5.50884e-06	1	5.65664e-06	13	359					T	108866490	G	T	108866490	3	4	79	1	0	0	0	0	1	0	0	0	4186	991	35	3	861	3	CYP2U1	4	108866490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251401	108866490	82287786	5547	15864											
LEF1	51176	broad.mit.edu	37	chr4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgagaggatggaccGcatgggatggctgcaccacg	20	8	0	1	rs199515145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000265165.1	-	4	1103	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000379951.2_Missense_Mutation_p.A150V	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	150	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(448-450)gCg>gTg		lymphoid enhancer-binding factor 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	122	110	114		449,449,245,449	5	0.6	4		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	64,64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/372,150/387,82/304,150/400	109010379	2,13004	2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109010379G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.449C>T	4.37:g.109010379G>A	ENSP00000265165:p.Ala150Val					LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000265165.1_Missense_Mutation_p.A150V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V	p.A150V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	4	1637	-			150			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.449C>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276371	0.59649	0.0	2.33E-4	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99150	-5.49;-5.48;-5.49;-5.47	5.87	5.03	0.67393	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.50333	1.59	0.52099	D	0.999948	P;D;B;D;P	0.76494	0.904;0.999;0.003;0.994;0.781	B;D;B;P;B	0.77004	0.231;0.989;0.001;0.847;0.183	D	0.99201	1.0873	10	0.20519	T	0.43	-1.1134	14.9854	0.71345	0.0681:0.0:0.9319:0.0	.	82;35;150;150;150	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	V	150;150;150;82;82;82	ENSP00000265165:A150V;ENSP00000369284:A150V;ENSP00000406176:A150V;ENSP00000422840:A82V	ENSP00000265165:A150V	A	-	2	0	LEF1	109229828	1.000000	0.71417	0.589000	0.28718	0.656000	0.38851	5.476000	0.66793	1.501000	0.48654	-0.229000	0.12294	GCG		0.493	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			63	296	0	0	0	1	0	63	296					A	109010379	G	A	109010379	3	1	79	1	0	0	0	0	1	0	0	0	8745	1087	38	1	866	1	LEF1	4	109010379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143889	109010379	82143897	5548	15865											
LEF1	51176	broad.mit.edu	37	chr4	109088884	109088884	+	Frame_Shift_Del	DEL	C	C	-													cgtggcgcagagttccgggtCccccccgccgccgccacctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109088884delC	ENST00000265165.1	-	1	694	c.40delG	c.(40-42)gacfs	p.D14fs	LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000510624.1_5'Flank|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000379951.2_Frame_Shift_Del_p.D14fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	14	Asp/Glu-rich (acidic).|CTNNB1-binding. {ECO:0000250}.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGTTCCGGGTCCCCCCCGCCG	0.637																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(40-42)acfs		lymphoid enhancer-binding factor 1							58	67	64					4																	109088884		2203	4300	6503	SO:0001589	frameshift_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088884delC		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.40delG	4.37:g.109088884delC	ENSP00000265165:p.Asp14fs					LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000265165.1_Frame_Shift_Del_p.D14fs|LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs	p.D14fs	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	1228	-			14			Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Frame_Shift_Del	DEL	ENST00000265165.1	37	c.40delG	CCDS3679.1																																																																																				0.637	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			7	964						7	964	---	---	---	---	-	109088884	C	-	109088884	7	5	79	1	0	1	0	1	0	0	0	0	8745	855	30	0	1300	0	LEF1	4	109088884	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	78505	109088884	82065392	5549	15866											
RPL34	6164	broad.mit.edu	37	chr4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttctaggatcaagcgtGctttccttatcgaggagcag	10	10	2	0	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GATCAAGCGTGCTTTCCTTAT	0.323																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(280-282)Gct>Act		ribosomal protein L34		G	THR/ALA,THR/ALA	0,4406		0,0,2203	46	48	47		280,280	4.6	1	4	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL34	NM_000995.3,NM_033625.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	94/118,94/118	109546294	1,13005	2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109546294G>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.280G>A	4.37:g.109546294G>A	ENSP00000378163:p.Ala94Thr					RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	5	346	+		Hepatocellular(203;0.217)	94					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.280G>A	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025344	0.93518	0.0	1.16E-4	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.94183	3.505	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.90789	0.4685	9	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	94	P49207	RL34_HUMAN	T	94	.	ENSP00000378160:A94T	A	+	1	0	RPL34	109765743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.278000	0.76064	0.655000	0.94253	GCT		0.323	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		14	127	0	0	0	1	0	14	127					A	109546294	G	A	109546294	3	1	79	1	0	0	0	0	1	0	0	0	13633	1319	46	2	294	2	RPL34	4	109546294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457410	109546294	81607982	5550	15867											
AGXT2L1	64850	broad.mit.edu	37	chr4	109681389	109681389	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtactgttcaccgttctCatcaaacatgtactgcctct	5	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109681389C>T	ENST00000296486.3	-	2	284	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E4K|ETNPPL_ENST00000411864.2_Missense_Mutation_p.E44K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	44						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCACCGTTCTCATCAAACATG	0.433																																						ENST00000296486.3																			0											c.(130-132)Gag>Aag		ethanolamine-phosphate phospho-lyase							155	145	148					4																	109681389		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109681389C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.130G>A	4.37:g.109681389C>T	ENSP00000296486:p.Glu44Lys					ETNPPL_ENST00000411864.2_Missense_Mutation_p.E44K|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E4K	p.E44K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					2	284	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.130G>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612301	0.87258	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000510706	D;D;D	0.85773	-2.03;-2.03;-2.03	5.46	4.62	0.57501	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	M	0.84773	2.715	0.80722	D	1	P;D	0.76494	0.877;0.999	P;D	0.67382	0.535;0.951	D	0.92730	0.6199	9	.	.	.	-30.9791	14.1904	0.65635	0.0:0.9277:0.0:0.0723	.	44;44	Q8TBG4-2;Q8TBG4	.;AT2L1_HUMAN	K	44;44;4	ENSP00000296486:E44K;ENSP00000392269:E44K;ENSP00000423240:E4K	.	E	-	1	0	AGXT2L1	109900838	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	7.764000	0.85297	1.306000	0.44926	-0.253000	0.11424	GAG		0.433	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		88	404	0	0	0	1	0	88	404					T	109681389	C	T	109681389	3	4	79	1	0	0	0	0	1	0	0	0	406	835	29	2	1417	2	AGXT2L1	4	109681389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135095	109681389	81472887	5551	15868											
COL25A1	84570	broad.mit.edu	37	chr4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccatccattcctgggattCctggagatccctgctctccc	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTGGGATTCCTGGAGATCC	0.353																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1408-1410)gGa>gTa		collagen, type XXV, alpha 1							124	111	115					4																	109769940		1832	4084	5916	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109769940C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1409G>T	4.37:g.109769940C>A	ENSP00000382083:p.Gly470Val					COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	p.G470V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	27	1939	-		Hepatocellular(203;0.217)	470			Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1409G>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172581	0.38315	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	.	0.106996	0.64402	D	0.000006	D	0.99569	0.9845	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.859;0.999	D	0.97804	1.0246	9	.	.	.	-6.4959	16.4954	0.84238	0.0:1.0:0.0:0.0	.	470;470	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	470;472;451;443;470;400	ENSP00000382083:G470V;ENSP00000382078:G443V;ENSP00000382077:G470V	.	G	-	2	0	COL25A1	109989389	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA		0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		109	429	1	0	3.60366e-59	1	4.52357e-59	109	429					A	109769940	C	A	109769940	3	1	79	1	0	0	0	0	1	0	0	0	3693	855	30	3	687	3	COL25A1	4	109769940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88551	109769940	81384336	5552	15869											
COL25A1	84570	broad.mit.edu	37	chr4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaagaataacctttggcCcttgtagtccttgaggtcca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTTGGCCCTTGTAGTCC	0.338																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1381-1383)gGg>gAg		collagen, type XXV, alpha 1							83	82	82					4																	109773399		1827	4087	5914	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109773399C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1382G>A	4.37:g.109773399C>T	ENSP00000382083:p.Gly461Glu					COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	p.G461E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	26	1912	-		Hepatocellular(203;0.217)	461			Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1382G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406093	0.62288	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97240	3.965	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97499	1.0059	9	.	.	.	-5.6076	19.3463	0.94363	0.0:1.0:0.0:0.0	.	461;461	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	461;463;442;434;461;391	ENSP00000382083:G461E;ENSP00000382078:G434E;ENSP00000382077:G461E	.	G	-	2	0	COL25A1	109992848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.922000	0.70036	2.659000	0.90383	0.650000	0.86243	GGG		0.338	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		38	207	0	0	0	1	0	38	207					T	109773399	C	T	109773399	3	4	79	1	0	0	0	0	1	0	0	0	3693	623	22	2	718	2	COL25A1	4	109773399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3459	109773399	81380877	5553	15870											
SEC24B	10427	broad.mit.edu	37	chr4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaacgggtacaagcacaCggctggatgatcgtgtatat	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000265175.5	+	20	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1094					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)			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)		TACAAGCACACGGCTGGATGA	0.343																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3280-3282)Cgg>Tgg		SEC24 family member B							110	104	106					4																	110452568		1877	4124	6001	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.chr4:110452568C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3280C>T	4.37:g.110452568C>T	ENSP00000265175:p.Arg1094Trp					SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	p.R1094W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3335	+		Hepatocellular(203;0.217)	1094					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3280C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323675	0.81580	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.63	0.57726	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.998;0.977;0.998;0.999	D	0.96419	0.9310	10	0.87932	D	0	-14.7145	14.6548	0.68825	0.0:0.9288:0.0:0.0712	.	1008;693;1124;1059;1094	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	W	1124;1059;1094	ENSP00000428564:R1124W;ENSP00000382051:R1059W;ENSP00000265175:R1094W	ENSP00000265175:R1094W	R	+	1	2	SEC24B	110672017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.579000	0.87056	0.650000	0.86243	CGG		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			67	314	0	0	0	1	0	67	314					T	110452568	C	T	110452568	3	4	79	1	0	0	0	0	1	0	0	0	14045	527	19	1	3358	1	SEC24B	4	110452568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679169	110452568	80701708	5554	15871											
PLA2G12A	81579	broad.mit.edu	37	chr4	110639872	110639872	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggagagccacatccattCggtggggagggtttataacc	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	84					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299																																						ENST00000243501.5																			0				kidney(1)|lung(1)|ovary(1)|skin(1)	4						c.(250-252)ccG>ccA		phospholipase A2, group XIIA							64	61	62					4																	110639872		2203	4300	6503	SO:0001819	synonymous_variant	81579				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr4:110639872C>T		CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"phospholipase A2, group XII"	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.252G>A	4.37:g.110639872C>T						PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	p.P84P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	2	519	-			84					Q9BZ89	Silent	SNP	ENST00000243501.5	37	c.252G>A	CCDS3686.1																																																																																				0.299	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3			34	159	0	0	0	1	0	34	159					T	110639872	C	T	110639872	2	4	79	1	0	0	0	0	0	0	0	1	12032	871	31	1		1	PLA2G12A	4	110639872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187304	110639872	80514404	5555	15872											
CFI	3426	broad.mit.edu	37	chr4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagtcccctttacaggcatCgatggaaccatcatatgtac	8	11	1	1	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394634.2	-	13	1762	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	519	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in AHUS3). {ECO:0000269|PubMed:16621965}.		complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTACAGGCATCGATGGAACCA	0.448																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27	GRCh37	CM062508	CFI	M	rs121964918	c.(1555-1557)Gat>Aat		complement factor I							135	143	140					4																	110662246		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662246C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1555G>A	4.37:g.110662246C>T	ENSP00000378130:p.Asp519Asn					CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	p.D519N	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1762	-		Hepatocellular(203;0.217)	519		D -> N (in AHUS3).	Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1555G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704595	0.88924	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94687	-3.49;-3.49;-3.49	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.116409	0.56097	D	0.000028	D	0.97458	0.9168	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.985;0.982	D	0.98173	1.0453	10	0.72032	D	0.01	-41.0888	15.9685	0.79995	0.0:1.0:0.0:0.0	.	527;512;519	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	527;519;512	ENSP00000378131:D527N;ENSP00000378130:D519N;ENSP00000427438:D512N	ENSP00000378130:D519N	D	-	1	0	CFI	110881695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.890000	0.75633	2.433000	0.82419	0.644000	0.83932	GAT		0.448	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		160	778	0	0	0	1	0	160	778					T	110662246	C	T	110662246	3	4	79	1	0	0	0	0	1	0	0	0	3298	884	31	1	200	1	CFI	4	110662246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22374	110662246	80492030	5556	15873											
CFI	3426	broad.mit.edu	37	chr4	110667516	110667516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcatttcaatcaaagCgatgtcattttggtaagtgc	7	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110667516C>T	ENST00000394634.2	-	11	1498	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	431	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATCAAAGCGATGTCATTT	0.408																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1291-1293)Gct>Act		complement factor I							164	146	152					4																	110667516		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667516C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1291G>A	4.37:g.110667516C>T	ENSP00000378130:p.Ala431Thr					CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	p.A431T	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1498	-		Hepatocellular(203;0.217)	431			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1291G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836600	0.71373	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.97976	-4.64;-4.64;-4.64	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.114120	0.64402	D	0.000015	D	0.99121	0.9697	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.973;0.916;0.993	D	0.99383	1.0923	10	0.87932	D	0	-17.3083	18.1393	0.89634	0.0:1.0:0.0:0.0	.	439;424;431	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	T	439;431;424	ENSP00000378131:A439T;ENSP00000378130:A431T;ENSP00000427438:A424T	ENSP00000378130:A431T	A	-	1	0	CFI	110886965	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.689000	0.74562	2.716000	0.92895	0.558000	0.71614	GCT		0.408	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		10	439	0	0	0	1	0	10	439					T	110667516	C	T	110667516	3	4	79	1	0	0	0	0	1	0	0	0	3298	768	27	1	472	1	CFI	4	110667516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5270	110667516	80486760	5557	15874											
LRIT3	345193	broad.mit.edu	37	chr4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtatggtgggaaggAcctgctgctgttgaatgcag	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000594814.1	+	4	1577	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000327908.3_Missense_Mutation_p.D343G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	526	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1027-1029)gAc>gGc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							136	125	129					4																	110791482		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791482A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1577A>G	4.37:g.110791482A>G	ENSP00000469759:p.Asp526Gly					LRIT3_ENST00000594814.1_Missense_Mutation_p.D526G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	p.D343G			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1792	+			481			Ser-rich.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1028A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752055	0.69533	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.091310	0.85682	D	0.000000	T	0.55689	0.1936	M	0.74647	2.275	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.74674	0.937;0.984	T	0.61342	-0.7082	10	0.87932	D	0	.	15.0075	0.71524	1.0:0.0:0.0:0.0	.	481;343	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	343;481;343	ENSP00000328222:D343G;ENSP00000369252:D481G;ENSP00000386734:D343G	ENSP00000328222:D343G	D	+	2	0	LRIT3	111010931	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	6.948000	0.75965	1.943000	0.56356	0.533000	0.62120	GAC		0.478	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		89	441	0	0	0	1	0	89	441					G	110791482	A	G	110791482	3	3	79	1	0	0	0	0	1	0	0	0	8987	275	10	4	1452	4	LRIT3	4	110791482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123966	110791482	80362794	5558	15875											
LRIT3	345193	broad.mit.edu	37	chr4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttatcttaccattgaTttgtttcttgttgtacaaag	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000594814.1	+	4	1796	c.1796T>G	c.(1795-1797)aTt>aGt	p.I599S	LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000327908.3_Missense_Mutation_p.I416S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	599					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1246-1248)aTt>aGt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							171	168	169					4																	110791701		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791701T>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1796T>G	4.37:g.110791701T>G	ENSP00000469759:p.Ile599Ser					LRIT3_ENST00000594814.1_Missense_Mutation_p.I599S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	p.I416S			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2011	+			554					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1247T>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793625	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.4;0.22	5.37	5.37	0.77165	.	0.095629	0.64402	D	0.000001	T	0.71126	0.3303	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62298	0.726;0.9	T	0.74213	-0.3738	10	0.62326	D	0.03	.	15.3813	0.74658	0.0:0.0:0.0:1.0	.	554;416	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	416;554;416	ENSP00000328222:I416S;ENSP00000369252:I554S;ENSP00000386734:I416S	ENSP00000328222:I416S	I	+	2	0	LRIT3	111011150	1.000000	0.71417	0.973000	0.42090	0.776000	0.43924	4.782000	0.62396	2.030000	0.59900	0.533000	0.62120	ATT		0.393	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		64	344	0	0	0	1	0	64	344					G	110791701	T	G	110791701	3	3	79	1	0	0	0	0	1	0	0	0	8987	1493	52	4	1671	4	LRIT3	4	110791701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219	110791701	80362575	5559	15876											
EGF	1950	broad.mit.edu	37	chr4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatatgaaaggaaataattCccacattcttttaagtgctt	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000265171.5	+	3	894	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	150					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGAAATAATTCCCACATTCTT	0.303																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(448-450)tCc>tTc		epidermal growth factor	Sulindac(DB00605)						77	80	79					4																	110864531		2202	4299	6501	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864531C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.449C>T	4.37:g.110864531C>T	ENSP00000265171:p.Ser150Phe					EGF_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	p.S150F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	894	+		Hepatocellular(203;0.0893)	150					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.449C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125930	0.56721	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.36878	1.23;1.23;1.23	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.449029	0.27797	N	0.017801	T	0.56848	0.2013	M	0.78916	2.43	0.26687	N	0.971421	D;D;D	0.71674	0.996;0.998;0.993	P;D;P	0.66716	0.885;0.946;0.885	T	0.54516	-0.8282	10	0.38643	T	0.18	.	11.1892	0.48675	0.1329:0.7219:0.1451:0.0	.	150;150;150	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	150	ENSP00000424316:S150F;ENSP00000265171:S150F;ENSP00000421384:S150F	ENSP00000265171:S150F	S	+	2	0	EGF	111083980	0.889000	0.30405	0.749000	0.31150	0.887000	0.51463	2.230000	0.42999	2.640000	0.89533	0.650000	0.86243	TCC		0.303	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			48	185	0	0	0	1	0	48	185					T	110864531	C	T	110864531	3	4	79	1	0	0	0	0	1	0	0	0	4978	855	30	2	459	2	EGF	4	110864531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72830	110864531	80289745	5560	15877											
EGF	1950	broad.mit.edu	37	chr4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttgtactggtgcgatgCcaagcagtctgtgattgaaa	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000265171.5	+	13	2427	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_ENST00000509793.1_Missense_Mutation_p.A619V|EGF_ENST00000503392.1_Missense_Mutation_p.A661V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	661					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGTGCGATGCCAAGCAGTCT	0.478																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1981-1983)gCc>gTc		epidermal growth factor	Sulindac(DB00605)						142	123	129					4																	110897320		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897320C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1982C>T	4.37:g.110897320C>T	ENSP00000265171:p.Ala661Val					EGF_ENST00000509793.1_Missense_Mutation_p.A619V|EGF_ENST00000503392.1_Missense_Mutation_p.A661V	p.A661V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2427	+		Hepatocellular(203;0.0893)	661					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1982C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164830	0.78339	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.505033	0.23461	N	0.047937	D	0.97133	0.9063	M	0.86864	2.845	0.35014	D	0.757176	P;B;P	0.49358	0.923;0.426;0.923	P;B;P	0.54174	0.744;0.36;0.676	D	0.99968	1.1898	10	0.87932	D	0	.	14.364	0.66792	0.0:0.9298:0.0:0.0702	.	661;619;661	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	619;661;661	ENSP00000424316:A619V;ENSP00000265171:A661V;ENSP00000421384:A661V	ENSP00000265171:A661V	A	+	2	0	EGF	111116769	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.021000	0.41020	1.440000	0.47531	0.655000	0.94253	GCC		0.478	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			70	263	0	0	0	1	0	70	263					T	110897320	C	T	110897320	3	4	79	1	0	0	0	0	1	0	0	0	4978	739	26	2	2032	2	EGF	4	110897320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32789	110897320	80256956	5561	15878											
ELOVL6	79071	broad.mit.edu	37	chr4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacaaggtgatgaacatgGcaaacttccgggagactcgg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	195					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GATGAACATGGCAAACTTCCG	0.537																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(583-585)gCc>gTc		ELOVL fatty acid elongase 6							87	75	79					4																	110972708		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972708G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.584C>T	4.37:g.110972708G>A	ENSP00000378105:p.Ala195Val					ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V	p.A195V			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	747	-			195					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.584C>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083593	0.94050	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.24538	1.85;1.85	5.97	5.13	0.70059	.	0.146407	0.64402	N	0.000007	T	0.58652	0.2137	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.67669	-0.5611	10	0.49607	T	0.09	-18.8957	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	195	Q9H5J4	ELOV6_HUMAN	V	195	ENSP00000378105:A195V;ENSP00000304736:A195V	ENSP00000304736:A195V	A	-	2	0	ELOVL6	111192157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	1.532000	0.49169	0.655000	0.94253	GCC		0.537	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		61	249	0	0	0	1	0	61	249					A	110972708	G	A	110972708	3	1	79	1	0	0	0	0	1	0	0	0	5096	1203	42	2	217	2	ELOVL6	4	110972708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75388	110972708	80181568	5562	15879											
ENPEP	2028	broad.mit.edu	37	chr4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagtgggacttgccgtggGcttgaccagatcgtgtgact	14	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTTGCCGTGGGCTTGACCAGA	0.602																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(112-114)gGc>gAc		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						197	182	187					4																	111397683		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397683G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.113G>A	4.37:g.111397683G>A	ENSP00000265162:p.Gly38Asp						p.G38D	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	455	+		Hepatocellular(203;0.217)	38					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.113G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246617	0.95305	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20739	-1.0266	10	0.36615	T	0.2	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	D	38	ENSP00000265162:G38D	ENSP00000265162:G38D	G	+	2	0	ENPEP	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC		0.602	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			164	699	0	0	0	1	0	164	699					A	111397683	G	A	111397683	3	1	79	1	0	0	0	0	1	0	0	0	5146	1203	42	2	115	2	ENPEP	4	111397683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424975	111397683	79756593	5563	15880											
ENPEP	2028	broad.mit.edu	37	chr4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacttgtggctaaatgaagGatttgcttctttctttgagt	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTAAATGAAGGATTTGCTTCT	0.368																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1249-1251)gGa>gAa		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						231	234	233					4																	111431456		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111431456G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1250G>A	4.37:g.111431456G>A	ENSP00000265162:p.Gly417Glu						p.G417E	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	6	1592	+		Hepatocellular(203;0.217)	417					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1250G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098730	0.94197	.	.	ENSG00000138792	ENST00000265162	T	0.24350	1.86	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	417	Q07075	AMPE_HUMAN	E	417	ENSP00000265162:G417E	ENSP00000265162:G417E	G	+	2	0	ENPEP	111650905	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.810000	0.99221	2.522000	0.85027	0.650000	0.86243	GGA		0.368	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			77	356	0	0	0	1	0	77	356					A	111431456	G	A	111431456	3	1	79	1	0	0	0	0	1	0	0	0	5146	1174	41	2	1272	2	ENPEP	4	111431456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33773	111431456	79722820	5564	15881											
ENPEP	2028	broad.mit.edu	37	chr4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagagaattttcaaaaaGgatgtcaggtatgatttatt	8	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	501					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTTTCAAAAAGGATGTCAGGT	0.294																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1501-1503)Gga>Aga		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						85	90	89					4																	111436590		2202	4296	6498	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111436590G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1501G>A	4.37:g.111436590G>A	ENSP00000265162:p.Gly501Arg					RP11-380D23.1_ENST00000503998.1_RNA	p.G501R	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	8	1843	+		Hepatocellular(203;0.217)	501					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1501G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876316	0.91664	.	.	ENSG00000138792	ENST00000265162	T	0.06218	3.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69202	-0.5207	10	0.87932	D	0	.	19.5811	0.95468	0.0:0.0:1.0:0.0	.	501	Q07075	AMPE_HUMAN	R	501	ENSP00000265162:G501R	ENSP00000265162:G501R	G	+	1	0	ENPEP	111656039	1.000000	0.71417	0.966000	0.40874	0.898000	0.52572	9.452000	0.97615	2.643000	0.89663	0.650000	0.86243	GGA		0.294	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			27	176	0	0	0	1	0	27	176					A	111436590	G	A	111436590	3	1	79	1	0	0	0	0	1	0	0	0	5146	1001	35	2	1531	2	ENPEP	4	111436590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5134	111436590	79717686	5565	15882											
TIFA	92610	broad.mit.edu	37	chr4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtagcccagctctctgCtgtccacgatcagattggtc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	100	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(298-300)aGc>aAc		TRAF-interacting protein with forkhead-associated domain							45	43	43					4																	113199274		2203	4299	6502	SO:0001583	missense	92610						protein binding	g.chr4:113199274C>T	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.299G>A	4.37:g.113199274C>T	ENSP00000354911:p.Ser100Asn					TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	580	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	100			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.299G>A	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057156	0.00390	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.33216	1.42;1.42	5.79	-1.66	0.08265	Forkhead-associated (FHA) domain (4);	0.612544	0.19210	N	0.119945	T	0.04998	0.0134	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	10	0.02654	T	1	-3.6976	11.9285	0.52833	0.0:0.2501:0.0:0.7499	.	100	Q96CG3	TIFA_HUMAN	N	100	ENSP00000354911:S100N;ENSP00000424231:S100N	ENSP00000354911:S100N	S	-	2	0	TIFA	113418723	0.232000	0.23762	0.014000	0.15608	0.021000	0.10359	0.539000	0.23175	-0.544000	0.06232	-0.150000	0.13652	AGC		0.418	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		43	208	0	0	0	1	0	43	208					T	113199274	C	T	113199274	3	4	79	1	0	0	0	0	1	0	0	0	15946	797	28	2	259	2	TIFA	4	113199274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1762684	113199274	77955002	5566	15883											
TIFA	92610	broad.mit.edu	37	chr4	113199287	113199287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctgctgtccacgatcaGattggtctttttactcatat	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	96	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(286-288)Ctg>Ttg		TRAF-interacting protein with forkhead-associated domain							45	44	44					4																	113199287		2203	4300	6503	SO:0001819	synonymous_variant	92610						protein binding	g.chr4:113199287G>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.286C>T	4.37:g.113199287G>A						TIFA_ENST00000500655.2_Silent_p.L96L	p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	567	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	96			FHA.			Silent	SNP	ENST00000361717.3	37	c.286C>T	CCDS34051.1																																																																																				0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		45	224	0	0	0	1	0	45	224					A	113199287	G	A	113199287	2	1	79	1	0	0	0	0	0	0	0	1	15946	933	33	2		2	TIFA	4	113199287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	113199287	77954989	5567	15884											
ALPK1	80216	broad.mit.edu	37	chr4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccttcgtgcctgaaAagtggcagtacaaacaagcc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	65							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(193-195)Aag>Gag		alpha-kinase 1							86	74	78					4																	113303625		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113303625A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.193A>G	4.37:g.113303625A>G	ENSP00000398048:p.Lys65Glu					ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E|ALPK1_ENST00000504176.2_Intron	p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	4	472	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	65					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.193A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406216	0.83230	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	.	0.048760	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73598	2.24	0.80722	D	1	P;D;D	0.69078	0.925;0.997;0.99	P;P;P	0.62740	0.54;0.906;0.768	T	0.54384	-0.8302	10	0.87932	D	0	-26.2083	15.839	0.78831	1.0:0.0:0.0:0.0	.	40;65;65	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	E	65;65;40	ENSP00000398048:K65E;ENSP00000177648:K65E	ENSP00000177648:K65E	K	+	1	0	ALPK1	113523074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.470000	0.73558	2.130000	0.65690	0.533000	0.62120	AAG		0.522	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		45	218	0	0	0	1	0	45	218					G	113303625	A	G	113303625	3	3	79	1	0	0	0	0	1	0	0	0	544	15	1	4	199	4	ALPK1	4	113303625	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104338	113303625	77850651	5568	15885											
ALPK1	80216	broad.mit.edu	37	chr4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggcagccagacttccAgtgcttggagcaacttatca	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R|ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	581							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(1741-1743)Agt>Cgt		alpha-kinase 1							87	89	88					4																	113352444		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352444A>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1741A>C	4.37:g.113352444A>C	ENSP00000398048:p.Ser581Arg					ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R|ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R	p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2020	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	581					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.1741A>C	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548533	0.65311	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.19;4.19;4.11	5.34	-1.57	0.08506	.	0.809781	0.11477	N	0.560132	T	0.07007	0.0178	M	0.71581	2.175	0.09310	N	1	D;D;P	0.57571	0.98;0.966;0.933	P;P;P	0.54312	0.748;0.564;0.564	T	0.16660	-1.0395	10	0.87932	D	0	-1.4499	4.3225	0.11023	0.5207:0.0:0.2595:0.2198	.	503;503;581	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	581;581;503	ENSP00000398048:S581R;ENSP00000177648:S581R;ENSP00000426044:S503R	ENSP00000177648:S581R	S	+	1	0	ALPK1	113571893	0.034000	0.19679	0.002000	0.10522	0.863000	0.49368	0.264000	0.18497	-0.514000	0.06488	0.533000	0.62120	AGT		0.502	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		63	312	0	0	0	1	0	63	312					C	113352444	A	C	113352444	3	2	79	1	0	0	0	0	1	0	0	0	544	188	7	4	1775	4	ALPK1	4	113352444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48819	113352444	77801832	5569	15886											
ALPK1	80216	broad.mit.edu	37	chr4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgcagggcttctagaagGagctccagaaggtatccagg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2077-2079)gGa>gAa		alpha-kinase 1							51	54	53					4																	113352781		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352781G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2078G>A	4.37:g.113352781G>A	ENSP00000398048:p.Gly693Glu					ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E|ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E	p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2357	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	693					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2078G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792700	0.31685	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.32;4.32;4.24	4.65	-0.601	0.11638	.	1.614930	0.03874	N	0.276041	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24882	0.033;0.113;0.02	B;B;B	0.27170	0.067;0.077;0.018	T	0.47471	-0.9115	10	0.20046	T	0.44	0.031	4.372	0.11253	0.345:0.0:0.5098:0.1452	.	615;615;693	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	693;693;615	ENSP00000398048:G693E;ENSP00000177648:G693E;ENSP00000426044:G615E	ENSP00000177648:G693E	G	+	2	0	ALPK1	113572230	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.067000	0.11579	-0.212000	0.10109	0.655000	0.94253	GGA		0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		52	238	0	0	0	1	0	52	238					A	113352781	G	A	113352781	3	1	79	1	0	0	0	0	1	0	0	0	544	1174	41	2	2112	2	ALPK1	4	113352781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	113352781	77801495	5570	15887											
ALPK1	80216	broad.mit.edu	37	chr4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgaaaacagaatacaAagccacagaatatggcttgg	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1153	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGAATACAAAGCCACAGAA	0.373																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3457-3459)aAa>aGa		alpha-kinase 1							70	70	70					4																	113360948		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113360948A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3458A>G	4.37:g.113360948A>G	ENSP00000398048:p.Lys1153Arg					ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R|ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R	p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3737	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1153			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3458A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457223	0.63401	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14144	2.53;2.53;2.53	5.05	3.86	0.44501	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.376195	0.29707	N	0.011410	T	0.20373	0.0490	N	0.17674	0.51	0.25132	N	0.990568	D;D;D	0.89917	0.996;1.0;0.971	D;D;P	0.77004	0.922;0.989;0.855	T	0.04796	-1.0926	10	0.45353	T	0.12	-14.5214	10.6883	0.45856	0.924:0.0:0.076:0.0	.	1075;1075;1153	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1153;1153;1075	ENSP00000398048:K1153R;ENSP00000177648:K1153R;ENSP00000426044:K1075R	ENSP00000177648:K1153R	K	+	2	0	ALPK1	113580397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.589000	0.46145	0.764000	0.33197	0.445000	0.29226	AAA		0.373	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		8	186	0	0	0	1	0	8	186					G	113360948	A	G	113360948	3	3	79	1	0	0	0	0	1	0	0	0	544	14	1	4	3504	4	ALPK1	4	113360948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8167	113360948	77793328	5571	15888											
C4orf21	55345	broad.mit.edu	37	chr4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataaaactcaggatttacaGtagtaaacttctttagtttg	6	5	2	0	rs200748166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1451						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGGATTTACAGTAGTAAACTT	0.289																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4351-4353)aCt>aAt		chromosome 4 open reading frame 21							86	82	84					4																	113502905		2203	4296	6499	SO:0001583	missense	55345							g.chr4:113502905G>T																												ENST00000505019.1:c.4352C>A	4.37:g.113502905G>T	ENSP00000424737:p.Thr1451Asn						p.T1451N	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	16	4477	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.4352C>A		.	.	.	.	.	.	.	.	.	.	G	6.492	0.458880	0.12342	.	.	ENSG00000138658	ENST00000505019	D	0.81821	-1.54	5.19	1.16	0.20824	.	1.178510	0.06265	N	0.694642	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47471	-0.9115	10	0.17369	T	0.5	-3.9906	4.3025	0.10932	0.2408:0.0:0.3005:0.4587	.	1451	G5EA02	.	N	1451	ENSP00000424737:T1451N	ENSP00000404365:T349N	T	-	2	0	C4orf21	113722354	0.031000	0.19500	0.001000	0.08648	0.859000	0.49053	0.934000	0.28910	0.640000	0.30582	0.561000	0.74099	ACT		0.289	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			24	110	1	0	5.35356e-11	1	5.69577e-11	24	110					T	113502905	G	T	113502905	3	4	79	1	0	0	0	0	1	0	0	0	2261	1029	36	3	2014	3	C4orf21	4	113502905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141957	113502905	77651371	5572	15889											
C4orf21	55345	broad.mit.edu	37	chr4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatagcgactttaaaataGaaatggtatttactaatcca	5	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTAAAATAGAAATGGTATT	0.378																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2479-2481)tCt>tTt		chromosome 4 open reading frame 21							84	82	82					4																	113538718		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113538718G>A																												ENST00000505019.1:c.2480C>T	4.37:g.113538718G>A	ENSP00000424737:p.Ser827Phe					C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F|C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F	p.S827F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2605	-		Ovarian(17;0.156)	827					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2480C>T		.	.	.	.	.	.	.	.	.	.	G	15.52	2.856696	0.51376	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.86956	-2.19;1.34;0.91	5.98	4.2	0.49525	.	0.378963	0.23192	N	0.050884	D	0.89220	0.6653	M	0.71581	2.175	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.56216	0.705;0.794	T	0.81936	-0.0705	10	0.87932	D	0	-0.832	6.088	0.19978	0.073:0.134:0.6544:0.1386	.	827;827	Q86YA3;G5EA02	CD021_HUMAN;.	F	827;827;796	ENSP00000424737:S827F;ENSP00000309095:S827F;ENSP00000390505:S796F	ENSP00000309095:S827F	S	-	2	0	C4orf21	113758167	0.074000	0.21230	0.099000	0.21106	0.962000	0.63368	1.023000	0.30065	0.798000	0.33994	0.655000	0.94253	TCT		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			49	239	0	0	0	1	0	49	239					A	113538718	G	A	113538718	3	1	79	1	0	0	0	0	1	0	0	0	2261	942	33	2	3926	2	C4orf21	4	113538718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35813	113538718	77615558	5573	15890											
C4orf21	55345	broad.mit.edu	37	chr4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctctttaacaggaaatgTcactgtaggtttgtcactaa	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		602						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACAGGAAATGTCACTGTAGGT	0.353																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1804-1806)Aca>Gca		chromosome 4 open reading frame 21							108	108	108					4																	113539394		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113539394T>C																												ENST00000505019.1:c.1804A>G	4.37:g.113539394T>C	ENSP00000424737:p.Thr602Ala					C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A|C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A	p.T602A	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1929	-		Ovarian(17;0.156)	602					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1804A>G		.	.	.	.	.	.	.	.	.	.	T	11.77	1.736409	0.30774	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.55	4.65	-2.87	0.05700	.	1.612590	0.03166	N	0.170010	T	0.67021	0.2849	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.58918	-0.7551	10	0.02654	T	1	1.7342	6.8986	0.24271	0.0:0.163:0.5016:0.3353	.	602;602	Q86YA3;G5EA02	CD021_HUMAN;.	A	602;602;571	ENSP00000424737:T602A;ENSP00000309095:T602A;ENSP00000390505:T571A	ENSP00000309095:T602A	T	-	1	0	C4orf21	113758843	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-0.726000	0.04936	-0.560000	0.06102	0.455000	0.32223	ACA		0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			92	414	0	0	0	1	0	92	414					C	113539394	T	C	113539394	3	2	79	1	0	0	0	0	1	0	0	0	2261	1667	58	4	4602	4	C4orf21	4	113539394	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	676	113539394	77614882	5574	15891											
ANK2	287	broad.mit.edu	37	chr4	113970914	113970914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcagctcagaaaagCgacagtggagagaagttcaa	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000506722.1_Intron|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000264366.6_Silent_p.S10S|ANK2_ENST00000394537.3_Silent_p.S10S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	10					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(28-30)agC>agT		ankyrin 2, neuronal							77	81	80					4																	113970914		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:113970914C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.30C>T	4.37:g.113970914C>T						RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000264366.6_Silent_p.S10S	p.S10S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	1	83	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	10					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.30C>T	CCDS3702.1																																																																																				0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		25	177	0	0	0	1	0	25	177					T	113970914	C	T	113970914	2	4	79	1	0	0	0	0	0	0	0	1	621	767	27	1		1	ANK2	4	113970914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431520	113970914	77183362	5575	15892											
ANK2	287	broad.mit.edu	37	chr4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctagctgtggcactccaGcaaggacacaaccaggcggt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	172					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(514-516)caG>caT		ankyrin 2, neuronal							133	129	131					4																	114158175		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158175G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.516G>T	4.37:g.114158175G>T	ENSP00000349588:p.Gln172His					ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H	p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	569	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	172					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.516G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072752	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.65732	-0.17;0.6;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.57	3.79	0.43588	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000163	T	0.66839	0.2830	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.917;0.998;0.99;0.953	T	0.69143	-0.5223	10	0.66056	D	0.02	.	10.8166	0.46580	0.2606:0.0:0.7394:0.0	.	172;172;172;151;151	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	151;151;151;187;172;172;172;151;37	ENSP00000423799:Q151H;ENSP00000421011:Q151H;ENSP00000421067:Q151H;ENSP00000424722:Q187H;ENSP00000378044:Q172H;ENSP00000349588:Q172H;ENSP00000264366:Q172H;ENSP00000421059:Q37H	ENSP00000264366:Q172H	Q	+	3	2	ANK2	114377624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.724000	0.47285	1.453000	0.47775	0.650000	0.86243	CAG		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		92	485	1	0	4.05997e-52	1	5.04755e-52	92	485					T	114158175	G	T	114158175	3	4	79	1	0	0	0	0	1	0	0	0	621	962	34	3	563	3	ANK2	4	114158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187261	114158175	76996101	5576	15893											
ANK2	287	broad.mit.edu	37	chr4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagaatgaccacaatgCtgacgtacaatccaaggtac	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	218					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(652-654)gCt>gAt		ankyrin 2, neuronal							143	131	135					4																	114158312		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158312C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.653C>A	4.37:g.114158312C>A	ENSP00000349588:p.Ala218Asp					ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D	p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	706	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	218					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.653C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896285	0.91962	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71698	-0.59;-0.13;-0.38;-0.27;-0.59;-0.32;-0.32	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	T	0.79851	0.4517	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.922;1.0;0.999;0.998	T	0.80569	-0.1324	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	218;218;218;197;197	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	D	197;197;197;233;218;218;218;197	ENSP00000423799:A197D;ENSP00000421011:A197D;ENSP00000421067:A197D;ENSP00000424722:A233D;ENSP00000378044:A218D;ENSP00000349588:A218D;ENSP00000264366:A218D	ENSP00000264366:A218D	A	+	2	0	ANK2	114377761	1.000000	0.71417	0.637000	0.29366	0.752000	0.42762	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCT		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		104	535	1	0	1.43697e-34	1	1.7097e-34	104	535					A	114158312	C	A	114158312	3	1	79	1	0	0	0	0	1	0	0	0	621	797	28	3	700	3	ANK2	4	114158312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	114158312	76995964	5577	15894											
ANK2	287	broad.mit.edu	37	chr4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtggttttacccctttgcAcatagctgcacattacggaa	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	238					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(712-714)cAc>cGc		ankyrin 2, neuronal							156	147	150					4																	114161660		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161660A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.713A>G	4.37:g.114161660A>G	ENSP00000349588:p.His238Arg					ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R	p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	766	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	238					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.713A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553975	0.86231	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71103	-0.48;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000055	D	0.86847	0.6031	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	D	0.89512	0.3772	10	0.72032	D	0.01	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	238;238;238;217;217	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	217;217;217;253;238;238;238;217	ENSP00000423799:H217R;ENSP00000421011:H217R;ENSP00000421067:H217R;ENSP00000424722:H253R;ENSP00000378044:H238R;ENSP00000349588:H238R;ENSP00000264366:H238R	ENSP00000264366:H238R	H	+	2	0	ANK2	114381109	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.212000	0.71576	0.528000	0.53228	CAC		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		67	306	0	0	0	1	0	67	306					G	114161660	A	G	114161660	3	3	79	1	0	0	0	0	1	0	0	0	621	159	6	4	768	4	ANK2	4	114161660	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3348	114161660	76992616	5578	15895											
ANK2	287	broad.mit.edu	37	chr4	114161720	114161720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaaaccggggagctgCtgtggacttcacagccaggg	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161720C>T	ENST00000357077.4	+	8	826	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V|ANK2_ENST00000394537.3_Missense_Mutation_p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	258					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGGGAGCTGCTGTGGACTTC	0.398																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(772-774)gCt>gTt		ankyrin 2, neuronal							120	112	114					4																	114161720		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161720C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.773C>T	4.37:g.114161720C>T	ENSP00000349588:p.Ala258Val					ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000394537.3_Missense_Mutation_p.A258V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V	p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	826	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	258					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.773C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910861	0.52439	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.53423	1.95;0.62;2.36;0.62;0.62;2.36;2.36	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000118	T	0.57198	0.2037	L	0.38733	1.17	0.80722	D	1	P;B;P;B;D	0.71674	0.678;0.122;0.627;0.058;0.998	B;B;B;B;D	0.80764	0.361;0.233;0.247;0.169;0.994	T	0.51348	-0.8717	10	0.34782	T	0.22	.	13.6813	0.62487	0.0:0.9249:0.0:0.0751	.	258;258;258;237;237	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	237;237;237;273;258;258;258;237	ENSP00000423799:A237V;ENSP00000421011:A237V;ENSP00000421067:A237V;ENSP00000424722:A273V;ENSP00000378044:A258V;ENSP00000349588:A258V;ENSP00000264366:A258V	ENSP00000264366:A258V	A	+	2	0	ANK2	114381169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.044000	0.71012	2.740000	0.93945	0.650000	0.86243	GCT		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	313	0	0	0	1	0	28	313					T	114161720	C	T	114161720	3	4	79	1	0	0	0	0	1	0	0	0	621	797	28	2	828	2	ANK2	4	114161720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	114161720	76992556	5579	15896											
ANK2	287	broad.mit.edu	37	chr4	114163362	114163362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatcgatgccaaaacTagggtgagtgtctctgttct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000394537.3_Silent_p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	296					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(886-888)acT>acC		ankyrin 2, neuronal							174	157	163					4																	114163362		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114163362T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.888T>C	4.37:g.114163362T>C						ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000264366.6_Silent_p.T296T	p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	9	941	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	296					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.888T>C	CCDS3702.1																																																																																				0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		48	200	0	0	0	1	0	48	200					C	114163362	T	C	114163362	2	2	79	1	0	0	0	0	0	0	0	1	621	1509	53	4		4	ANK2	4	114163362	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1642	114163362	76990914	5580	15897											
ANK2	287	broad.mit.edu	37	chr4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggggcactcaccaagCggatccgcgtaggcctgcag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1191	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1191W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCACCAAGCGGATCCGCGT	0.507																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R1191W(1)	NS(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3571-3573)Cgg>Tgg		ankyrin 2, neuronal							74	74	74					4																	114257193		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114257193C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3571C>T	4.37:g.114257193C>T	ENSP00000349588:p.Arg1191Trp					ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W	p.R1191W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3624	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1158					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3571C>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911636|3.911636	0.72983|0.72983	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.39;-0.4;-0.83	5.27|5.27	1.04|1.04	0.20106|0.20106	.|.	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.969;0.994;0.969;0.982;0.998;0.967;0.975	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|.	.|.	.|.	.|.	16.0621|16.0621	0.80843|0.80843	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|367;1158;203;1191;1191;1182;1182	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	V|W	203|1104;1182;237;1206;1191;1191;1158;1182;367	.|ENSP00000421011:R1104W;ENSP00000421067:R1182W;ENSP00000424722:R1206W;ENSP00000378044:R1191W;ENSP00000349588:R1191W;ENSP00000264366:R1158W;ENSP00000426944:R367W	.|.	A|R	+|+	2|1	0|2	ANK2|ANK2	114476642|114476642	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.448000|0.448000	0.21726|0.21726	0.559000|0.559000	0.29153|0.29153	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	356	0	0	0	1	0	28	356					T	114257193	C	T	114257193	3	4	79	1	0	0	0	0	1	0	0	0	621	759	27	1	3754	1	ANK2	4	114257193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93831	114257193	76897083	5581	15898											
ANK2	287	broad.mit.edu	37	chr4	114264287	114264287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaagaaaatagacttcctCtatttgtcaaggtaatatat	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000394537.3_Silent_p.L1413L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1413	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4237-4239)Cta>Tta		ankyrin 2, neuronal							114	112	113					4																	114264287		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114264287C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4237C>T	4.37:g.114264287C>T						ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000264366.6_Silent_p.L1380L	p.L1413L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	34	4290	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1380					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4237C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685802	0.14973	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.5	4.66	0.58398	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.0002	0.36077	0.0:0.7784:0.0:0.2216	.	.	.	.	F	425	.	.	S	+	2	0	ANK2	114483736	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.770000	0.47662	1.321000	0.45227	-0.143000	0.13931	TCT		0.328	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		50	229	0	0	0	1	0	50	229					T	114264287	C	T	114264287	2	4	79	1	0	0	0	0	0	0	0	1	621	912	32	2		2	ANK2	4	114264287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7094	114264287	76889989	5582	15899											
ANK2	287	broad.mit.edu	37	chr4	114279143	114279143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatatgaccaaaaggtcCtatgcagatgaaagttttca	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3123					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9367-9369)tcC>tcT		ankyrin 2, neuronal							51	55	54					4																	114279143		2197	4300	6497	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279143C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9369C>T	4.37:g.114279143C>T						ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S	p.S3123S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9422	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3090					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9369C>T	CCDS3702.1																																																																																				0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		47	217	0	0	0	1	0	47	217					T	114279143	C	T	114279143	2	4	79	1	0	0	0	0	0	0	0	1	621	668	24	2		2	ANK2	4	114279143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14856	114279143	76875133	5583	15900											
ANK2	287	broad.mit.edu	37	chr4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcaccttggcttcagCtggacaggtaaaaagaatgt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3583	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10747-10749)agC>agA		ankyrin 2, neuronal							118	104	109					4																	114282046		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114282046C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10749C>A	4.37:g.114282046C>A	ENSP00000349588:p.Ser3583Arg					ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R	p.S3583R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	39	10802	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3550			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10749C>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560749|3.560749	0.65538|0.65538	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.52|5.52	4.56|4.56	0.56223|0.56223	.|.	.|0.173471	.|0.40385	.|N	.|0.001109	D|D	0.91331|0.91331	0.7266|0.7266	M|M	0.77313|0.77313	2.365|2.365	0.39653|0.39653	D|D	0.970495|0.970495	.|D;D;D;D;D;D	.|0.89917	.|0.985;0.999;0.985;0.995;1.0;0.975	.|D;D;D;D;D;P	.|0.91635	.|0.914;0.988;0.936;0.975;0.999;0.837	D|D	0.92053|0.92053	0.5650|0.5650	5|10	.|0.62326	.|D	.|0.03	.|.	12.2485|12.2485	0.54585|0.54585	0.0:0.8502:0.0:0.1498|0.0:0.8502:0.0:0.1498	.|.	.|674;533;499;1498;3583;1489	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|R	500;151|1489;533;1498;3583;3550;1489;674;150;593	.|ENSP00000421067:S1489R;ENSP00000378044:S1498R;ENSP00000349588:S3583R;ENSP00000264366:S3550R;ENSP00000426944:S674R;ENSP00000421023:S150R;ENSP00000422498:S593R	.|ENSP00000264366:S3550R	L|S	+|+	1|3	2|2	ANK2|ANK2	114501495|114501495	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.604000|0.604000	0.24164|0.24164	2.603000|2.603000	0.88011|0.88011	0.557000|0.557000	0.71058|0.71058	CTG|AGC		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	78	1	0	0.00307968	1	0.00310409	8	78					A	114282046	C	A	114282046	3	1	79	1	0	0	0	0	1	0	0	0	621	796	28	3	10968	3	ANK2	4	114282046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	114282046	76872230	5584	15901											
CAMK2D	817	broad.mit.edu	37	chr4	114430832	114430832	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacaaactcttggctgCtgtaaaatgagagtaaaatc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000342666.5	-	13	946		c.e13-1		CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTCTTGGCTGCTGTAAAATGA	0.393																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.e13-1		calcium/calmodulin-dependent protein kinase II delta							111	106	107					4																	114430832		2203	4300	6503	SO:0001630	splice_region_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114430832C>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.947-1G>T	4.37:g.114430832C>A						CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000342666.5_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000508738.1_Splice_Site				Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	13	1805	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)						A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Splice_Site	SNP	ENST00000342666.5	37		CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027771	0.75390	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000513132;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMK2D	114650281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.102000	0.64572	2.882000	0.98803	0.655000	0.94253	.		0.393	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2		Intron	22	210	1	0	1.22574e-08	1	1.28258e-08	22	210					A	114430832	C	A	114430832	5	1	79	1	0	0	0	0	0	0	1	0	2608	811	28	3	672	3	CAMK2D	4	114430832	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148786	114430832	76723444	5585	15902											
UGT8	7368	broad.mit.edu	37	chr4	115597280	115597280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttggtgctgccttgTtatactttctcttgtcttgg	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115597280T>G	ENST00000310836.6	+	6	1984	c.1462T>G	c.(1462-1464)Tta>Gta	p.L488V	UGT8_ENST00000394511.3_Missense_Mutation_p.L488V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	488					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)			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)		TGCTGCCTTGTTATACTTTCT	0.398																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1462-1464)Tta>Gta		UDP glycosyltransferase 8							148	127	134					4																	115597280		2203	4300	6503	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.chr4:115597280T>G	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	ENST00000310836.6:c.1462T>G	4.37:g.115597280T>G	ENSP00000311648:p.Leu488Val					UGT8_ENST00000394511.3_Missense_Mutation_p.L488V	p.L488V	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	1984	+		Ovarian(17;0.156)	488					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.1462T>G	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	0.114	-1.134200	0.01742	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.57436	0.4;0.4	5.44	0.227	0.15359	.	0.746296	0.13787	N	0.362787	T	0.14442	0.0349	N	0.00707	-1.245	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	5.7321	0.18047	0.0:0.325:0.2515:0.4235	.	488	Q16880	CGT_HUMAN	V	488	ENSP00000311648:L488V;ENSP00000378019:L488V	ENSP00000311648:L488V	L	+	1	2	UGT8	115816729	0.145000	0.22656	0.972000	0.41901	0.994000	0.84299	-0.117000	0.10708	0.053000	0.16036	0.459000	0.35465	TTA		0.398	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		7	369	0	0	0	1	0	7	369					G	115597280	T	G	115597280	3	3	79	1	0	0	0	0	1	0	0	0	17019	1722	60	4	1480	4	UGT8	4	115597280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1166448	115597280	75556996	5586	15903											
NDST4	64579	broad.mit.edu	37	chr4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaactgaacttcctcaaatGtctttggactagggagattg	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	629	Heparan sulfate N-sulfotransferase 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)			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)		TTCCTCAAATGTCTTTGGACT	0.308																																						ENST00000264363.2																			0				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						c.(1885-1887)aCa>aGa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							146	141	143					4																	115769425		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115769425G>C	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.1886C>G	4.37:g.115769425G>C	ENSP00000264363:p.Thr629Arg						p.T629R	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2564	-		Ovarian(17;0.156)	629			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1886C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416859	0.83449	.	.	ENSG00000138653	ENST00000264363	D	0.82344	-1.6	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	629	Q9H3R1	NDST4_HUMAN	R	629	ENSP00000264363:T629R	ENSP00000264363:T629R	T	-	2	0	NDST4	115988874	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	ACA		0.308	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		81	289	0	0	0	1	0	81	289					C	115769425	G	C	115769425	3	2	79	1	0	0	0	0	1	0	0	0	10300	1377	48	5	756	5	NDST4	4	115769425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172145	115769425	75384851	5587	15904											
NDST4	64579	broad.mit.edu	37	chr4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagaatacatactgggtttaGaaggattgtgagaaaaagtt	11	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	510	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)			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)		ACTGGGTTTAGAAGGATTGTG	0.323																																						ENST00000264363.2																			0				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						c.(1528-1530)Cta>Ata		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							177	180	179					4																	115856370		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856370G>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.1528C>A	4.37:g.115856370G>T	ENSP00000264363:p.Leu510Ile						p.L510I	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2206	-		Ovarian(17;0.156)	510			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1528C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000138653	ENST00000264363	T	0.38560	1.13	5.12	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.75777	2.31	0.53688	D	0.999978	P	0.38420	0.63	B	0.40602	0.334	T	0.49688	-0.8913	10	0.46703	T	0.11	.	13.4805	0.61332	0.076:0.0:0.924:0.0	.	510	Q9H3R1	NDST4_HUMAN	I	510	ENSP00000264363:L510I	ENSP00000264363:L510I	L	-	1	2	NDST4	116075819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	1.128000	0.42052	0.591000	0.81541	CTA		0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		66	232	1	0	3.05417e-18	1	3.38677e-18	66	232					T	115856370	G	T	115856370	3	4	79	1	0	0	0	0	1	0	0	0	10300	933	33	3	1126	3	NDST4	4	115856370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86945	115856370	75297906	5588	15905											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccccaaatacaagaaAaaaagtagaacacactaaac	5	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	131	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(391-393)tTt>tGt		translocation associated membrane protein 1-like 1							76	72	73					4																	118006158		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006158A>C	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.392T>G	4.37:g.118006158A>C	ENSP00000309402:p.Phe131Cys						p.F131C	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	578	-			131			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.392T>G	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285381	0.23478	.	.	ENSG00000174599	ENST00000310754	D	0.86366	-2.11	4.29	3.1	0.35709	TRAM/LAG1/CLN8 homology domain (3);	0.153083	0.64402	D	0.000015	D	0.87418	0.6172	L	0.36672	1.1	0.37683	D	0.923555	D	0.58620	0.983	D	0.63793	0.918	D	0.87434	0.2390	10	0.56958	D	0.05	-27.7925	8.2484	0.31702	0.9029:0.0:0.0971:0.0	.	131	Q8N609	TR1L1_HUMAN	C	131	ENSP00000309402:F131C	ENSP00000309402:F131C	F	-	2	0	TRAM1L1	118225606	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	6.273000	0.72581	0.970000	0.38263	0.533000	0.62120	TTT		0.378	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		71	306	0	0	0	1	0	71	306					C	118006158	A	C	118006158	3	2	79	1	0	0	0	0	1	0	0	0	16505	14	1	4	721	4	TRAM1L1	4	118006158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2149788	118006158	73148118	5589	15906											
NDST3	9348	broad.mit.edu	37	chr4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagattgttgtattaatcCtcattctccattgattcgtg	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.				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)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(589-591)cCt>cTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							111	113	112					4																	118975655		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975655C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.590C>T	4.37:g.118975655C>T	ENSP00000296499:p.Pro197Leu					NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	993	+			197			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.590C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958808	0.53400	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48836	1.16;0.8	5.07	5.07	0.68467	.	0.052125	0.85682	D	0.000000	T	0.66674	0.2813	M	0.76574	2.34	0.80722	D	1	P;P;D	0.56746	0.863;0.788;0.977	P;P;P	0.58928	0.681;0.848;0.647	T	0.71902	-0.4452	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	197;197;197	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	197	ENSP00000296499:P197L;ENSP00000396625:P197L	ENSP00000296499:P197L	P	+	2	0	NDST3	119195103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.346000	0.79739	0.655000	0.94253	CCT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		114	557	0	0	0	1	0	114	557					T	118975655	C	T	118975655	3	4	79	1	0	0	0	0	1	0	0	0	10299	681	24	2	592	2	NDST3	4	118975655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969497	118975655	72178621	5590	15907											
NDST3	9348	broad.mit.edu	37	chr4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacctgcgacttcagaCtctgcctccagtacaactgg	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	551	Heparan sulfate N-deacetylase 3.				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)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1651-1653)aCt>aTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							97	97	97					4																	119145758		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119145758C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1652C>T	4.37:g.119145758C>T	ENSP00000296499:p.Thr551Ile					NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	p.T551I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			7	2055	+			551			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1652C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032221	0.93575	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.11;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.83692	2.655	0.46823	D	0.999214	D;D	0.89917	0.986;1.0	P;D	0.76575	0.835;0.988	T	0.76085	-0.3088	10	0.66056	D	0.02	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	470;551	B4DI67;O95803	.;NDST3_HUMAN	I	551;470	ENSP00000296499:T551I;ENSP00000396625:T470I	ENSP00000296499:T551I	T	+	2	0	NDST3	119365206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.694000	0.84235	2.635000	0.89317	0.650000	0.86243	ACT		0.418	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		47	378	0	0	0	1	0	47	378					T	119145758	C	T	119145758	3	4	79	1	0	0	0	0	1	0	0	0	10299	565	20	2	1674	2	NDST3	4	119145758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170103	119145758	72008518	5591	15908											
PRSS12	8492	broad.mit.edu	37	chr4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaccacccagctctctcCgggccgttcacacatgagtg	8	16	2	1	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	835	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G835R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547																																						ENST00000296498.3																			1	Substitution - Missense(1)	p.G835R(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2503-2505)Gga>Aga		protease, serine, 12 (neurotrypsin, motopsin)		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	80	82	81		2503	6.2	0	4	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS12	NM_003619.3	125	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	835/876	119203216	2,13004	2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203216C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2503G>A	4.37:g.119203216C>T	ENSP00000296498:p.Gly835Arg						p.G835R	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			13	2785	-			835			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2503G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594280	0.66219	2.27E-4	1.16E-4	ENSG00000164099	ENST00000296498	D	0.93366	-3.21	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.394294	0.30338	N	0.009857	D	0.93943	0.8061	L	0.28556	0.865	0.37830	D	0.92869	D	0.89917	1.0	D	0.71656	0.974	D	0.94576	0.7775	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	835	P56730	NETR_HUMAN	R	835	ENSP00000296498:G835R	ENSP00000296498:G835R	G	-	1	0	PRSS12	119422664	0.997000	0.39634	0.034000	0.17996	0.379000	0.30106	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	GGA		0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			80	370	0	0	0	1	0	80	370					T	119203216	C	T	119203216	3	4	79	1	0	0	0	0	1	0	0	0	12662	661	23	1	128	1	PRSS12	4	119203216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57458	119203216	71951060	5592	15909											
PRSS12	8492	broad.mit.edu	37	chr4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggaagtaagggaatggCtgcttgttgtagtgttcttg	14	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	785	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2353-2355)Gcc>Tcc		protease, serine, 12 (neurotrypsin, motopsin)							133	129	130					4																	119203366		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203366C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2353G>T	4.37:g.119203366C>A	ENSP00000296498:p.Ala785Ser						p.A785S	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			13	2635	-			785			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2353G>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361803	0.24684	.	.	ENSG00000164099	ENST00000296498	D	0.88277	-2.36	6.08	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254753	0.44902	D	0.000414	T	0.69940	0.3167	N	0.01515	-0.825	0.35163	D	0.770848	P	0.36354	0.549	B	0.33295	0.161	T	0.76022	-0.3111	10	0.06757	T	0.87	.	15.609	0.76699	0.0:0.9342:0.0:0.0658	.	785	P56730	NETR_HUMAN	S	785	ENSP00000296498:A785S	ENSP00000296498:A785S	A	-	1	0	PRSS12	119422814	0.936000	0.31750	1.000000	0.80357	0.991000	0.79684	1.336000	0.33850	1.586000	0.49944	0.591000	0.81541	GCC		0.433	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			83	408	1	0	2.16136e-38	1	2.60442e-38	83	408					A	119203366	C	A	119203366	3	1	79	1	0	0	0	0	1	0	0	0	12662	797	28	3	278	3	PRSS12	4	119203366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	119203366	71950910	5593	15910											
PRSS12	8492	broad.mit.edu	37	chr4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagcaggcaatgctaAcatcttcgcggtggctgcag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	481	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1441-1443)gTt>gCt		protease, serine, 12 (neurotrypsin, motopsin)							99	80	87					4																	119234403		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119234403A>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1442T>C	4.37:g.119234403A>G	ENSP00000296498:p.Val481Ala						p.V481A	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			7	1724	-			481			SRCR 3.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1442T>C	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389899	0.25118	.	.	ENSG00000164099	ENST00000296498	T	0.32272	1.46	5.92	4.75	0.60458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.164162	0.53938	N	0.000056	T	0.31638	0.0803	N	0.17872	0.535	0.44424	D	0.997348	D	0.53462	0.96	P	0.57152	0.814	T	0.03374	-1.1043	10	0.22109	T	0.4	.	11.9127	0.52747	0.9322:0.0:0.0678:0.0	.	481	P56730	NETR_HUMAN	A	481	ENSP00000296498:V481A	ENSP00000296498:V481A	V	-	2	0	PRSS12	119453851	0.994000	0.37717	0.205000	0.23548	0.554000	0.35429	6.231000	0.72307	1.061000	0.40601	0.528000	0.53228	GTT		0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			38	211	0	0	0	1	0	38	211					G	119234403	A	G	119234403	3	3	79	1	0	0	0	0	1	0	0	0	12662	43	2	4	1213	4	PRSS12	4	119234403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31037	119234403	71919873	5594	15911											
PRSS12	8492	broad.mit.edu	37	chr4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgcctccagcaaggCgaatgatggggaacgttggg	15	10	0	1	rs199814947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	281	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17751	0.001		0.0	False		,,,				2504	0.0					ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(841-843)cGc>cAc		protease, serine, 12 (neurotrypsin, motopsin)							75	69	71					4																	119253000		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119253000C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.842G>A	4.37:g.119253000C>T	ENSP00000296498:p.Arg281His						p.R281H	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			4	1124	-			281			SRCR 2.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.842G>A	CCDS3709.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.21	3.574041	0.65765	.	.	ENSG00000164099	ENST00000296498	T	0.53857	0.6	6.04	5.19	0.71726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	H	0.98883	4.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90794	0.4689	10	0.87932	D	0	.	15.8315	0.78757	0.0:0.8652:0.1348:0.0	.	281	P56730	NETR_HUMAN	H	281	ENSP00000296498:R281H	ENSP00000296498:R281H	R	-	2	0	PRSS12	119472448	1.000000	0.71417	0.734000	0.30879	0.017000	0.09413	7.118000	0.77137	1.557000	0.49525	0.561000	0.74099	CGC		0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			51	260	0	0	0	1	0	51	260					T	119253000	C	T	119253000	3	4	79	1	0	0	0	0	1	0	0	0	12662	768	27	1	1825	1	PRSS12	4	119253000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18597	119253000	71901276	5595	15912											
SYNPO2	171024	broad.mit.edu	37	chr4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtataatgtcacagccaataAtaatatgtccaccacctccc	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3613-3615)aAt>aGt		synaptopodin 2							89	84	86					4																	119978917		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978917A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3614A>G	4.37:g.119978917A>G	ENSP00000306015:p.Asn1205Ser					SYNPO2_ENST00000448416.2_3'UTR	p.N1205S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3810	+			0					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3614A>G	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.961529	0.00465	.	.	ENSG00000172403	ENST00000307142	T	0.06687	3.27	5.76	-7.26	0.01466	.	1.365610	0.05007	N	0.470170	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	.	.	.	-1.0E-4	13.3281	0.60471	0.2603:0.0:0.6428:0.0969	.	1205;1205	B9EG60;Q9UMS6-2	.;.	S	1205	ENSP00000306015:N1205S	.	N	+	2	0	SYNPO2	120198365	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	-1.144000	0.02862	-0.256000	0.11100	AAT		0.433	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			90	398	0	0	0	1	0	90	398					G	119978917	A	G	119978917	3	3	79	1	0	0	0	0	1	0	0	0	15509	101	4	4	3744	4	SYNPO2	4	119978917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725917	119978917	71175359	5596	15913											
MYOZ2	51778	broad.mit.edu	37	chr4	120072119	120072119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaaccgtggtgccaggCtatttaagatgcgtcaaaga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(169-171)Cta>Tta		myozenin 2							138	129	132					4																	120072119		2203	4300	6503	SO:0001819	synonymous_variant	51778						protein phosphatase 2B binding	g.chr4:120072119C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.169C>T	4.37:g.120072119C>T							p.L57L	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			3	382	+			57						Silent	SNP	ENST00000307128.5	37	c.169C>T	CCDS3711.1																																																																																				0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			79	342	0	0	0	1	0	79	342					T	120072119	C	T	120072119	2	4	79	1	0	0	0	0	0	0	0	1	10137	796	28	2		2	MYOZ2	4	120072119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93202	120072119	71082157	5597	15914											
MYOZ2	51778	broad.mit.edu	37	chr4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaatacagcacagtaTtgctatgcagaatgggaaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(253-255)aTt>aGt		myozenin 2							117	115	116					4																	120079184		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079184T>G	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.254T>G	4.37:g.120079184T>G	ENSP00000306997:p.Ile85Ser						p.I85S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	467	+			85						Missense_Mutation	SNP	ENST00000307128.5	37	c.254T>G	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150916	0.06585	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.7	4.45	0.53987	.	1.093690	0.06764	N	0.782303	T	0.45836	0.1362	L	0.34521	1.04	0.09310	N	1	P	0.35872	0.525	B	0.31101	0.124	T	0.29912	-0.9996	10	0.09590	T	0.72	-2.3569	7.3584	0.26731	0.171:0.0:0.1213:0.7076	.	85	Q9NPC6	MYOZ2_HUMAN	S	85	ENSP00000306997:I85S	ENSP00000306997:I85S	I	+	2	0	MYOZ2	120298632	0.062000	0.20869	0.710000	0.30468	0.918000	0.54935	2.156000	0.42310	2.163000	0.67991	0.533000	0.62120	ATT		0.408	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			84	411	0	0	0	1	0	84	411					G	120079184	T	G	120079184	3	3	79	1	0	0	0	0	1	0	0	0	10137	1493	52	4	264	4	MYOZ2	4	120079184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7065	120079184	71075092	5598	15915											
MYOZ2	51778	broad.mit.edu	37	chr4	120085546	120085546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgattacaggagctttaAcaggtaattcaatggtcctg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120085546A>G	ENST00000307128.5	+	5	770	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAGCTTTAACAGGTAATTC	0.398																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(556-558)aAc>aGc		myozenin 2							51	51	51					4																	120085546		2201	4300	6501	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120085546A>G	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.557A>G	4.37:g.120085546A>G	ENSP00000306997:p.Asn186Ser						p.N186S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			5	770	+			186	N -> T (in Ref. 1; AAG13932).					Missense_Mutation	SNP	ENST00000307128.5	37	c.557A>G	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595357	0.86953	.	.	ENSG00000172399	ENST00000307128	T	0.80480	-1.38	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92076	0.5668	10	0.87932	D	0	-26.911	16.4277	0.83824	1.0:0.0:0.0:0.0	.	186	Q9NPC6	MYOZ2_HUMAN	S	186	ENSP00000306997:N186S	ENSP00000306997:N186S	N	+	2	0	MYOZ2	120304994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.781000	0.91805	2.279000	0.76181	0.533000	0.62120	AAC		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			6	229	0	0	0	1	0	6	229					G	120085546	A	G	120085546	3	3	79	1	0	0	0	0	1	0	0	0	10137	43	2	4	571	4	MYOZ2	4	120085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6362	120085546	71068730	5599	15916											
USP53	54532	broad.mit.edu	37	chr4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatatagtgtgtgtgtcGtagctgtggagcatcgtcag	13	7	1	0	rs141895329	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000274030.6	+	9	1676	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000450251.1_Missense_Mutation_p.R166H	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTGTGTGTCGTAGCTGTGGA	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		17824	0.002		0.001	False		,,,				2504	0.0					ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(496-498)cGt>cAt		ubiquitin specific peptidase 53		G	HIS/ARG	1,3779		0,1,1889	168	160	163		497	4.8	1	4	dbSNP_134	163	0,8244		0,0,4122	yes	missense	USP53	NM_019050.2	29	0,1,6011	AA,AG,GG		0.0,0.0265,0.0083	probably-damaging	166/1074	120177606	1,12023	1890	4122	6012	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120177606G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.497G>A	4.37:g.120177606G>A	ENSP00000274030:p.Arg166His					USP53_ENST00000274030.6_Missense_Mutation_p.R166H	p.R166H			Q70EK8	UBP53_HUMAN			5	1041	+			166						Missense_Mutation	SNP	ENST00000274030.6	37	c.497G>A	CCDS43265.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.82	3.705380	0.68615	2.65E-4	0.0	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.31510	1.49;1.49	5.6	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.156127	0.64402	N	0.000016	T	0.40372	0.1114	L	0.31065	0.9	0.36361	D	0.860725	D	0.89917	1.0	D	0.79784	0.993	T	0.49113	-0.8973	10	0.52906	T	0.07	-11.342	9.8648	0.41136	0.0731:0.1396:0.7873:0.0	.	166	Q70EK8	UBP53_HUMAN	H	166	ENSP00000274030:R166H;ENSP00000409906:R166H	ENSP00000274030:R166H	R	+	2	0	USP53	120397054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	1.354000	0.45846	0.563000	0.77884	CGT		0.333	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		90	387	0	0	0	1	0	90	387					A	120177606	G	A	120177606	3	1	79	1	0	0	0	0	1	0	0	0	17138	1145	40	1	515	1	USP53	4	120177606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92060	120177606	70976670	5600	15917											
USP53	54532	broad.mit.edu	37	chr4	120190845	120190845	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaatgatttcttttacaGctaagttaagtcacattgat	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000274030.6	+	15	2467		c.e15-1		USP53_ENST00000450251.1_Splice_Site	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTCTTTTACAGCTAAGTTAAG	0.259																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.e11-1		ubiquitin specific peptidase 53							59	60	60					4																	120190845		1796	4054	5850	SO:0001630	splice_region_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120190845G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1289-1G>A	4.37:g.120190845G>A						USP53_ENST00000274030.6_Splice_Site				Q70EK8	UBP53_HUMAN			11	1832	+									Splice_Site	SNP	ENST00000274030.6	37		CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816201	0.70912	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5008	0.87731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP53	120410293	1.000000	0.71417	0.716000	0.30569	0.937000	0.57800	7.366000	0.79548	2.567000	0.86603	0.561000	0.74099	.		0.259	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	Intron	58	241	0	0	0	1	0	58	241					A	120190845	G	A	120190845	5	1	79	1	0	0	0	0	0	0	1	0	17138	985	34	2	1330	2	USP53	4	120190845	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13239	120190845	70963431	5601	15918											
PDE5A	8654	broad.mit.edu	37	chr4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaggtcagtaaacatccGaattgtacacagtgctgttt	10	7	1	1	rs182361575	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0					ENST00000354960.3																			1	Substitution - Missense(1)	p.R577W(1)	large_intestine(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1729-1731)Cgg>Tgg		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						126	118	121					4																	120446754		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120446754G>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1729C>T	4.37:g.120446754G>A	ENSP00000347046:p.Arg577Trp					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000512739.1_5'UTR	p.R577W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			12	2048	-			577					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1729C>T	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG		0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		55	281	0	0	0	1	0	55	281					A	120446754	G	A	120446754	3	1	79	1	0	0	0	0	1	0	0	0	11686	1057	37	1	938	1	PDE5A	4	120446754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	120446754	70707522	5602	15919											
PDE5A	8654	broad.mit.edu	37	chr4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagcttccagaaactgttCgtcatttcggttgaaaggct	9	8	1	2	rs200355800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1465-1467)Gaa>Aaa		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						137	129	131					4																	120463721		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120463721C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1465G>A	4.37:g.120463721C>T	ENSP00000347046:p.Glu489Lys					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000512739.1_5'UTR	p.E489K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			10	1784	-			489			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1465G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	PDE5A	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA		0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		22	309	0	0	0	1	0	22	309					T	120463721	C	T	120463721	3	4	79	1	0	0	0	0	1	0	0	0	11686	893	31	1	1210	1	PDE5A	4	120463721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16967	120463721	70690555	5603	15920											
PDE5A	8654	broad.mit.edu	37	chr4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatttttgacatactgagCatacatgtaattgattttgt	7	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	412	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1234-1236)Gct>Act		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						224	217	219					4																	120474867		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120474867C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1234G>A	4.37:g.120474867C>T	ENSP00000347046:p.Ala412Thr					PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T	p.A412T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			8	1553	-			412			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1234G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610356	0.66558	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68331	-0.32;-0.32;-0.32	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56340	1.77	0.80722	D	1	B;B	0.26708	0.011;0.157	B;B	0.27380	0.077;0.079	T	0.60677	-0.7216	10	0.36615	T	0.2	.	19.707	0.96076	0.0:1.0:0.0:0.0	.	412;370	O76074;O76074-2	PDE5A_HUMAN;.	T	412;360;370	ENSP00000347046:A412T;ENSP00000377957:A360T;ENSP00000264805:A370T	ENSP00000264805:A370T	A	-	1	0	PDE5A	120694315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.751000	0.94390	0.650000	0.86243	GCT		0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		67	301	0	0	0	1	0	67	301					T	120474867	C	T	120474867	3	4	79	1	0	0	0	0	1	0	0	0	11686	710	25	2	1449	2	PDE5A	4	120474867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11146	120474867	70679409	5604	15921											
MAD2L1	4085	broad.mit.edu	37	chr4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataaatcagcagatcaaatGaacctaaattggggataaga	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	150	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(448-450)tCa>tTa		MAD2 mitotic arrest deficient-like 1 (yeast)							47	44	45					4																	120981442		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120981442G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.449C>T	4.37:g.120981442G>A	ENSP00000296509:p.Ser150Leu						p.S150L	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			5	788	-			150			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.449C>T	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821885	0.90873	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.304482	0.34002	N	0.004354	T	0.75436	0.3849	M	0.77486	2.375	0.58432	D	0.999999	B	0.32800	0.385	B	0.42062	0.374	T	0.77373	-0.2612	9	0.59425	D	0.04	-4.4885	18.9343	0.92579	0.0:0.0:1.0:0.0	.	150	Q13257	MD2L1_HUMAN	L	150	.	ENSP00000296509:S150L	S	-	2	0	MAD2L1	121200890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	TCA		0.363	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			10	133	0	0	0	1	0	10	133					A	120981442	G	A	120981442	3	1	79	1	0	0	0	0	1	0	0	0	9187	1294	45	2	172	2	MAD2L1	4	120981442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506575	120981442	70172834	5605	15922											
PRDM5	11107	broad.mit.edu	37	chr4	121702388	121702388	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctttcatgaaccacctgGacatgaacatttaatgtatc	6	9	2	2	rs374433951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702388G>A	ENST00000264808.3	-	12	1593	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	451					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAACCACCTGGACATGAACAT	0.388																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1351-1353)gtC>gtT		PR domain containing 5		G		1,4405	2.1+/-5.4	0,1,2202	164	133	144		1353	2.2	1	4		144	0,8600		0,0,4300	no	coding-synonymous	PRDM5	NM_018699.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		451/631	121702388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702388G>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1353C>T	4.37:g.121702388G>A						PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	p.V451V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1593	-			451					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1353C>T	CCDS3716.1																																																																																				0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			8	301	0	0	0	1	0	8	301					A	121702388	G	A	121702388	2	1	79	1	0	0	0	0	0	0	0	1	12507	1161	41	2		2	PRDM5	4	121702388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720946	121702388	69451888	5606	15923											
PRDM5	11107	broad.mit.edu	37	chr4	121702402	121702402	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggacatgaacatttaAtgtatccttcctcttaaagg	6	10	1	1	rs193201534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	447					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACATTTAATGTATCCTTC	0.398																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1339-1341)Tta>Cta		PR domain containing 5							148	119	129					4																	121702402		2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702402A>G	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1339T>C	4.37:g.121702402A>G						PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	p.L447L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1579	-			447					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1339T>C	CCDS3716.1																																																																																				0.398	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			44	254	0	0	0	1	0	44	254					G	121702402	A	G	121702402	2	3	79	1	0	0	0	0	0	0	0	1	12507	98	4	4		4	PRDM5	4	121702402	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14	121702402	69451874	5607	15924											
PRDM5	11107	broad.mit.edu	37	chr4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaactgggaatttcttcCcacagttcttgcacttaaat	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTCTTCCCACAGTTCTT	0.373																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(613-615)gGg>gAg		PR domain containing 5							93	88	89					4																	121739544		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739544C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.614G>A	4.37:g.121739544C>T	ENSP00000264808:p.Gly205Glu					PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	854	-			205					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.614G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876634	0.91664	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.59224	0.28;0.28;0.28	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.39467	1.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70952	-0.4732	10	0.52906	T	0.07	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	E	205	ENSP00000264808:G205E;ENSP00000422309:G205E;ENSP00000404832:G205E	ENSP00000264808:G205E	G	-	2	0	PRDM5	121958994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.562000	0.60816	2.498000	0.84270	0.555000	0.69702	GGG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			46	188	0	0	0	1	0	46	188					T	121739544	C	T	121739544	3	4	79	1	0	0	0	0	1	0	0	0	12507	623	22	2	1326	2	PRDM5	4	121739544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37142	121739544	69414732	5608	15925											
PRDM5	11107	broad.mit.edu	37	chr4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaagccagttggagtgcCgtgggttggtagcatccaaa	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGAGTGCCGTGGGTTGGT	0.443																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(229-231)cGg>cAg		PR domain containing 5							297	292	293					4																	121774643		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774643C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.230G>A	4.37:g.121774643C>T	ENSP00000264808:p.Arg77Gln					PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q	p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			3	470	-			77			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.230G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096555	0.94197	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.809;0.999	D;D;B;D	0.77557	0.978;0.99;0.252;0.978	T	0.67019	-0.5776	10	0.15499	T	0.54	-4.7371	19.011	0.92872	0.0:1.0:0.0:0.0	.	77;77;77;77	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	Q	77	ENSP00000264808:R77Q;ENSP00000422309:R77Q;ENSP00000404832:R77Q;ENSP00000377955:R77Q	ENSP00000264808:R77Q	R	-	2	0	PRDM5	121994093	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	5.315000	0.65810	2.857000	0.98124	0.650000	0.86243	CGG		0.443	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			293	1353	0	0	0	1	0	293	1353					T	121774643	C	T	121774643	3	4	79	1	0	0	0	0	1	0	0	0	12507	652	23	1	1718	1	PRDM5	4	121774643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35099	121774643	69379633	5609	15926											
C4orf31	79625	broad.mit.edu	37	chr4	121957901	121957901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctttaggttttcctctaaGctgaaactgctgaatgcctt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121957901G>T	ENST00000379692.4	-	4	1751	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	409					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)			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						TTTCCTCTAAGCTGAAACTGC	0.413																																						ENST00000379692.4																			0				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						c.(1225-1227)Ctt>Att		neuron-derived neurotrophic factor							114	112	112					4																	121957901		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957901G>T	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.1225C>A	4.37:g.121957901G>T	ENSP00000369014:p.Leu409Ile						p.L409I	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1751	-			409					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1225C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067490	0.20067	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	2.76	0.32466	.	0.059400	0.64402	D	0.000002	T	0.47377	0.1442	L	0.49350	1.555	0.58432	D	0.999994	B	0.09022	0.002	B	0.17098	0.017	T	0.33828	-0.9853	9	0.29301	T	0.29	-18.5846	8.5616	0.33514	0.0722:0.0:0.6552:0.2726	.	409	Q8TB73	NDNF_HUMAN	I	409	.	ENSP00000369014:L409I	L	-	1	0	NDNF	122177351	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	3.281000	0.51685	0.698000	0.31739	0.655000	0.94253	CTT		0.413	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		141	548	1	0	5.05259e-68	1	6.40366e-68	141	548					T	121957901	G	T	121957901	3	4	79	1	0	0	0	0	1	0	0	0	2268	971	34	3	485	3	C4orf31	4	121957901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183258	121957901	69196375	5610	15927											
C4orf31	79625	broad.mit.edu	37	chr4	121958586	121958586	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaggtcacatctactctTgggtcatagggtaactcagg	12	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121958586T>G	ENST00000379692.4	-	4	1066	c.540A>C	c.(538-540)ccA>ccC	p.P180P	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	180					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)			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						CATCTACTCTTGGGTCATAGG	0.488																																						ENST00000379692.4																			0				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						c.(538-540)ccA>ccC		neuron-derived neurotrophic factor							198	199	198					4																	121958586		2065	4221	6286	SO:0001819	synonymous_variant	79625							g.chr4:121958586T>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.540A>C	4.37:g.121958586T>G						NDNF_ENST00000506900.1_5'UTR	p.P180P	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1066	-			180					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.540A>C	CCDS3717.2																																																																																				0.488	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		163	637	0	0	0	1	0	163	637					G	121958586	T	G	121958586	2	3	79	1	0	0	0	0	0	0	0	1	2268	1799	63	4		4	C4orf31	4	121958586	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	685	121958586	69195690	5611	15928											
TNIP3	79931	broad.mit.edu	37	chr4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttccttttccttgttcGcaagagtattttttcccttt	5	9	0	1	rs374033583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000509841.1	-	8	752	c.674C>T	c.(673-675)gCg>gTg	p.A225V	TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(442-444)gCg>gTg		TNFAIP3 interacting protein 3		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	166	153	157		443,443	-5.2	0	4		157	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	TNIP3	NM_001128843.2,NM_024873.5	64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	148/326,148/326	122075755	2,13002	2203	4299	6502	SO:0001583	missense	79931							g.chr4:122075755G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.674C>T	4.37:g.122075755G>A	ENSP00000426613:p.Ala225Val					TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000509841.1_Missense_Mutation_p.A225V	p.A148V			Q96KP6	TNIP3_HUMAN			7	670	-			148						Missense_Mutation	SNP	ENST00000509841.1	37	c.443C>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.516059	0.00151	0.0	2.33E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.71	-5.17	0.02849	.	1.828580	0.02425	N	0.082965	T	0.28632	0.0709	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18999	-1.0319	10	0.13108	T	0.6	0.2705	6.6311	0.22857	0.5605:0.0:0.2377:0.2018	.	218;148;148	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	148;148;218;225	ENSP00000057513:A148V;ENSP00000411817:A148V;ENSP00000427106:A218V;ENSP00000426613:A225V	ENSP00000057513:A148V	A	-	2	0	TNIP3	122295205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.129000	0.10515	-1.090000	0.03069	-2.455000	0.00206	GCG		0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		55	290	0	0	0	1	0	55	290					A	122075755	G	A	122075755	3	1	79	1	0	0	0	0	1	0	0	0	16368	1087	38	1	562	1	TNIP3	4	122075755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117169	122075755	69078521	5612	15929											
TNIP3	79931	broad.mit.edu	37	chr4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagccggtcccgggTcaggtcgcgctgcctgtcgt	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000509841.1	-	7	646	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(337-339)Acc>Ccc		TNFAIP3 interacting protein 3							116	134	128					4																	122078275		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122078275T>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.568A>C	4.37:g.122078275T>G	ENSP00000426613:p.Thr190Pro					TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000509841.1_Missense_Mutation_p.T190P	p.T113P			Q96KP6	TNIP3_HUMAN			6	564	-			113						Missense_Mutation	SNP	ENST00000509841.1	37	c.337A>C	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698387	0.48307	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.79	-7.58	0.01313	.	2.342090	0.01568	N	0.020440	T	0.59390	0.2190	L	0.60455	1.87	0.09310	N	1	B;B;P	0.43094	0.001;0.002;0.799	B;B;P	0.44990	0.002;0.003;0.466	T	0.64343	-0.6430	10	0.72032	D	0.01	10.3068	7.1203	0.25440	0.0:0.3636:0.4254:0.211	.	183;113;113	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	P	113;113;183;190	ENSP00000057513:T113P;ENSP00000411817:T113P;ENSP00000427106:T183P;ENSP00000426613:T190P	ENSP00000057513:T113P	T	-	1	0	TNIP3	122297725	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.672000	0.05244	-1.505000	0.01807	0.397000	0.26171	ACC		0.647	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		69	1612	0	0	0	1	0	69	1612					G	122078275	T	G	122078275	3	3	79	1	0	0	0	0	1	0	0	0	16368	1667	58	4	672	4	TNIP3	4	122078275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2520	122078275	69076001	5613	15930											
TNIP3	79931	broad.mit.edu	37	chr4	122085277	122085277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccctgtacaaaatgtgCcatggaagctgtttttcctg	10	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122085277C>A	ENST00000509841.1	-	4	313	c.235G>T	c.(235-237)Gca>Tca	p.A79S	TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000454328.1_Missense_Mutation_p.A2S	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAAAATGTGCCATGGAAGCT	0.388																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(4-6)Gca>Tca		TNFAIP3 interacting protein 3							110	104	106					4																	122085277		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122085277C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.235G>T	4.37:g.122085277C>A	ENSP00000426613:p.Ala79Ser					TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000509841.1_Missense_Mutation_p.A79S	p.A2S			Q96KP6	TNIP3_HUMAN			3	231	-			2						Missense_Mutation	SNP	ENST00000509841.1	37	c.4G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590273	0.66105	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.59364	0.77;0.77;0.28;0.27	4.5	2.71	0.32032	.	0.176081	0.27567	N	0.018781	T	0.51109	0.1655	L	0.57536	1.79	0.09310	N	1	P;P;P	0.46784	0.793;0.884;0.884	B;B;B	0.42738	0.272;0.396;0.256	T	0.49437	-0.8940	10	0.87932	D	0	-4.2012	6.5541	0.22450	0.0:0.7133:0.1842:0.1025	.	72;2;2	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	S	2;2;72;79	ENSP00000057513:A2S;ENSP00000411817:A2S;ENSP00000427106:A72S;ENSP00000426613:A79S	ENSP00000057513:A2S	A	-	1	0	TNIP3	122304727	0.003000	0.15002	0.088000	0.20740	0.334000	0.28698	0.274000	0.18680	0.564000	0.29238	0.650000	0.86243	GCA		0.388	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		8	374	1	0	3.09899e-07	1	3.21319e-07	8	374					A	122085277	C	A	122085277	3	1	79	1	0	0	0	0	1	0	0	0	16368	739	26	3	1017	3	TNIP3	4	122085277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7002	122085277	69068999	5614	15931											
EXOSC9	5393	broad.mit.edu	37	chr4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagatgcagtaaaatcGctggtgtgaaagtagcagaa	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000243498.5	+	8	868	c.760G>A	c.(760-762)Gct>Act	p.A254T	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Missense_Mutation_p.A238T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(712-714)Gct>Act		exosome component 9							50	53	52					4																	122732759		2203	4297	6500	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122732759G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.760G>A	4.37:g.122732759G>A	ENSP00000243498:p.Ala254Thr					EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.A254T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T	p.A238T			Q06265	EXOS9_HUMAN			7	928	+			254			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.712G>A	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463947|4.463947	0.84425|0.84425	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.046429|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56746|.	0.939;0.977;0.955|.	B;B;P|.	0.45406|.	0.25;0.35;0.479|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.56958|.	D|.	0.05|.	-30.9715|-30.9715	11.4169|11.4169	0.49958|0.49958	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	238;254;254|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	T|H	254;254;208;238|89	ENSP00000243498:A254T;ENSP00000368984:A254T;ENSP00000422205:A208T;ENSP00000425782:A238T|.	ENSP00000243498:A254T|.	A|R	+|+	1|2	0|0	EXOSC9|EXOSC9	122952209|122952209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.056000|6.056000	0.71111|0.71111	2.747000|2.747000	0.94245|0.94245	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.308	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		26	91	0	0	0	1	0	26	91					A	122732759	G	A	122732759	3	1	79	1	0	0	0	0	1	0	0	0	5339	1087	38	1	790	1	EXOSC9	4	122732759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647482	122732759	68421517	5615	15932											
CCNA2	890	broad.mit.edu	37	chr4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaaactagatgctccattCtcagaacttgtttcttggtg	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	293					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(877-879)aGa>aAa		cyclin A2							123	127	126					4																	122740651		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122740651C>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.878G>A	4.37:g.122740651C>T	ENSP00000274026:p.Arg293Lys						p.R293K	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			5	1181	-			293					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.878G>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782183	0.70222	.	.	ENSG00000145386	ENST00000274026	T	0.18338	2.22	6.04	6.04	0.98038	Cyclin, N-terminal (1);Cyclin-like (3);	0.045186	0.85682	D	0.000000	T	0.12008	0.0292	N	0.25060	0.705	0.48901	D	0.999726	B	0.16396	0.017	B	0.23852	0.049	T	0.12863	-1.0531	10	0.08837	T	0.75	.	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	293	P20248	CCNA2_HUMAN	K	293	ENSP00000274026:R293K	ENSP00000274026:R293K	R	-	2	0	CCNA2	122960101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.873000	0.98535	0.561000	0.74099	AGA		0.378	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		40	477	0	0	0	1	0	40	477					T	122740651	C	T	122740651	3	4	79	1	0	0	0	0	1	0	0	0	2919	913	32	2	436	2	CCNA2	4	122740651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7892	122740651	68413625	5616	15933											
CCNA2	890	broad.mit.edu	37	chr4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacatgaatggtgaacGcaggctgtttactgtttgct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	98					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(292-294)gCg>gTg		cyclin A2							116	113	114					4																	122743722		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122743722G>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.293C>T	4.37:g.122743722G>A	ENSP00000274026:p.Ala98Val						p.A98V	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			2	596	-			98					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.293C>T	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819230	0.71028	.	.	ENSG00000145386	ENST00000274026	T	0.16743	2.32	5.74	5.74	0.90152	.	0.254375	0.15847	U	0.241726	T	0.18425	0.0442	L	0.49350	1.555	0.37440	D	0.914368	B	0.31752	0.338	B	0.19666	0.026	T	0.09707	-1.0662	10	0.27785	T	0.31	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	98	P20248	CCNA2_HUMAN	V	98	ENSP00000274026:A98V	ENSP00000274026:A98V	A	-	2	0	CCNA2	122963172	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.921000	0.63397	2.715000	0.92844	0.655000	0.94253	GCG		0.418	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		103	430	0	0	0	1	0	103	430					A	122743722	G	A	122743722	3	1	79	1	0	0	0	0	1	0	0	0	2919	1087	38	1	1033	1	CCNA2	4	122743722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3071	122743722	68410554	5617	15934											
CCNA2	890	broad.mit.edu	37	chr4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgctcatcatttacaGgaagatccttaaggggtgca	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	79					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(235-237)cCt>cAt		cyclin A2							92	90	90					4																	122743779		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122743779G>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.236C>A	4.37:g.122743779G>T	ENSP00000274026:p.Pro79His						p.P79H	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			2	539	-			79					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.236C>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048425	0.55110	.	.	ENSG00000145386	ENST00000274026	T	0.15256	2.44	5.74	3.97	0.46021	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.25614	N	0.986468	B	0.22800	0.075	B	0.21151	0.033	T	0.13737	-1.0498	9	0.59425	D	0.04	.	8.5659	0.33538	0.0798:0.2876:0.6326:0.0	.	79	P20248	CCNA2_HUMAN	H	79	ENSP00000274026:P79H	ENSP00000274026:P79H	P	-	2	0	CCNA2	122963229	0.862000	0.29867	0.990000	0.47175	0.996000	0.88848	1.584000	0.36589	1.392000	0.46585	0.655000	0.94253	CCT		0.413	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		87	394	1	0	3.05217e-42	1	3.71447e-42	87	394					T	122743779	G	T	122743779	3	4	79	1	0	0	0	0	1	0	0	0	2919	1000	35	3	1090	3	CCNA2	4	122743779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	122743779	68410497	5618	15935											
BBS7	55212	broad.mit.edu	37	chr4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtgaagcctctaatctcaGatgctgcagcaataaaaatt	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	88					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTAATCTCAGATGCTGCAGC	0.428									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(262-264)tCt>tAt		Bardet-Biedl syndrome 7							92	92	92					4																	122782737		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122782737G>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.263C>A	4.37:g.122782737G>T	ENSP00000264499:p.Ser88Tyr					BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			4	446	-			88					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.263C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741916	0.89573	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92099	-2.97;-2.97	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.80722	D	1	D;D	0.62365	0.991;0.98	P;P	0.59643	0.861;0.861	D	0.95737	0.8780	10	0.72032	D	0.01	-14.2789	19.328	0.94270	0.0:0.0:1.0:0.0	.	88;88	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	Y	88	ENSP00000264499:S88Y;ENSP00000423626:S88Y	ENSP00000264499:S88Y	S	-	2	0	BBS7	123002187	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.443000	0.97568	2.559000	0.86315	0.591000	0.81541	TCT		0.428	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			18	269	1	0	1.01871e-10	1	1.082e-10	18	269					T	122782737	G	T	122782737	3	4	79	1	0	0	0	0	1	0	0	0	1342	942	33	3	1953	3	BBS7	4	122782737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38958	122782737	68371539	5619	15936											
KIAA1109	84162	broad.mit.edu	37	chr4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaccaaaatggcgcaacGttactcaggaaaagtgagta	9	7	1	1	rs72925924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I			Q2LD37	K1109_HUMAN	KIAA1109	640					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCGCAACGTTACTCAGGA	0.463													G|||	12	0.00239617	0.0091	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(1918-1920)Gtt>Att		KIAA1109		G	ILE/VAL	16,3870		0,16,1927	72	67	68		1918	-1.4	0.6	4	dbSNP_130	68	0,8284		0,0,4142	yes	missense	KIAA1109	NM_015312.3	29	0,16,6069	AA,AG,GG		0.0,0.4117,0.1315	benign	640/5006	123130479	16,12154	1943	4142	6085	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123130479G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1918G>A	4.37:g.123130479G>A	ENSP00000264501:p.Val640Ile					KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron	p.V640I			Q2LD37	K1109_HUMAN			18	2291	+			640					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1918G>A	CCDS43267.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.753|1.753	-0.488817|-0.488817	0.04352|0.04352	0.004117|0.004117	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.21543	.|2.58;2.58;2.0	4.55|4.55	-1.37|-1.37	0.09056|0.09056	.|.	.|0.432718	.|0.14967	.|N	.|0.288041	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.03324|0.03324	-0.35|-0.35	0.27008|0.27008	N|N	0.964746|0.964746	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.02654	.|T	.|1	.|.	6.2867|6.2867	0.21037|0.21037	0.44:0.1455:0.4145:0.0|0.44:0.1455:0.4145:0.0	.|.	.|640;640	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|I	472|640	.|ENSP00000264501:V640I;ENSP00000373390:V640I;ENSP00000389925:V640I	.|ENSP00000264501:V640I	R|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123349929|123349929	0.997000|0.997000	0.39634|0.39634	0.623000|0.623000	0.29173|0.29173	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	-0.330000|-0.330000	0.08514|0.08514	-0.459000|-0.459000	0.05422|0.05422	CGT|GTT		0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		39	167	0	0	0	1	0	39	167					A	123130479	G	A	123130479	3	1	79	1	0	0	0	0	1	0	0	0	8238	1145	40	1	1980	1	KIAA1109	4	123130479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347742	123130479	68023797	5620	15937											
KIAA1109	84162	broad.mit.edu	37	chr4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggagacagaactggAccttttgtcagtaaccattg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109	3673					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAACTGGACCTTTTGTCA	0.318																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11017-11019)gAc>gGc		KIAA1109							54	51	52					4																	123249281		1835	4079	5914	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249281A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11018A>G	4.37:g.123249281A>G	ENSP00000264501:p.Asp3673Gly					KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G	p.D3673G			Q2LD37	K1109_HUMAN			66	11391	+			3673					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11018A>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.321035|4.321035	0.81580|0.81580	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.39592|.	2.2;2.2;1.07|.	5.57|5.57	4.37|4.37	0.52481|0.52481	.|.	0.066944|.	0.64402|.	N|.	0.000017|.	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13594|.	0.008;0.007|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.31617|.	T|.	0.26|.	.|.	11.7505|11.7505	0.51845|0.51845	0.9296:0.0:0.0704:0.0|0.9296:0.0:0.0704:0.0	.|.	3672;3673|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|A	3673;3673;377|84	ENSP00000264501:D3673G;ENSP00000373390:D3673G;ENSP00000410874:D377G|.	ENSP00000264501:D3673G|.	D|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123468731|123468731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.404000|7.404000	0.79996|0.79996	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	GAC|ACC		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		19	159	0	0	0	1	0	19	159					G	123249281	A	G	123249281	3	3	79	1	0	0	0	0	1	0	0	0	8238	275	10	4	11272	4	KIAA1109	4	123249281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118802	123249281	67904995	5621	15938											
KIAA1109	84162	broad.mit.edu	37	chr4	123258035	123258035	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaccaaatattttaaacaGctgtcagctcacaagatgaa	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTTTAAACAGCTGTCAGCTC	0.323																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.e71-1		KIAA1109							120	103	108					4																	123258035		1828	4081	5909	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123258035G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12011-1G>A	4.37:g.123258035G>A						KIAA1109_ENST00000388738.3_Splice_Site				Q2LD37	K1109_HUMAN			71	12383	+								Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Splice_Site	SNP	ENST00000264501.4	37		CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741598	0.69304	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000306802	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4524	0.61178	0.0754:0.0:0.9246:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1109	123477485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.411000	0.80078	2.530000	0.85305	0.467000	0.42956	.		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Intron	55	218	0	0	0	1	0	55	218					A	123258035	G	A	123258035	5	1	79	1	0	0	0	0	0	0	1	0	8238	985	34	2	12284	2	KIAA1109	4	123258035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8754	123258035	67896241	5622	15939											
KIAA1109	84162	broad.mit.edu	37	chr4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattttgaaataccagatcCtatggaagaatcaacaacat	5	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109	4020					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATACCAGATCCTATGGAAGAA	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(12058-12060)cCt>cAt		KIAA1109							216	185	195					4																	123258084		1876	4111	5987	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123258084C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12059C>A	4.37:g.123258084C>A	ENSP00000264501:p.Pro4020His					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H	p.P4020H			Q2LD37	K1109_HUMAN			71	12432	+			4020					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.12059C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601491|2.601491	0.46423|0.46423	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.52;2.52;1.51	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.222299	.|0.39020	.|N	.|0.001488	T|T	0.37320|0.37320	0.0999|0.0999	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.813	.|P;P	.|0.51615	.|0.675;0.476	T|T	0.02232|0.02232	-1.1191|-1.1191	5|10	.|0.27785	.|T	.|0.31	.|.	15.538|15.538	0.76018|0.76018	0.1385:0.8615:0.0:0.0|0.1385:0.8615:0.0:0.0	.|.	.|4019;4020	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|H	396|4020;4020;689	.|ENSP00000264501:P4020H;ENSP00000373390:P4020H;ENSP00000410874:P689H	.|ENSP00000264501:P4020H	L|P	+|+	1|2	2|0	KIAA1109|KIAA1109	123477534|123477534	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.864000|3.864000	0.56024|0.56024	2.530000|2.530000	0.85305|0.85305	0.467000|0.467000	0.42956|0.42956	CTA|CCT		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		31	315	1	0	2.81731e-10	1	2.98404e-10	31	315					A	123258084	C	A	123258084	3	1	79	1	0	0	0	0	1	0	0	0	8238	681	24	3	12333	3	KIAA1109	4	123258084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49	123258084	67896192	5623	15940											
KIAA1109	84162	broad.mit.edu	37	chr4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacatcatcgacactggcCtggagtattgaaggtggtat	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109	4627					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGACACTGGCCTGGAGTATTG	0.433																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(13879-13881)cCt>cTt		KIAA1109							159	153	155					4																	123274089		2001	4184	6185	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274089C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13880C>T	4.37:g.123274089C>T	ENSP00000264501:p.Pro4627Leu					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L	p.P4627L			Q2LD37	K1109_HUMAN			81	14253	+			4627					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13880C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610370	0.87258	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.43294	0.95;0.95;0.95	5.98	5.98	0.97165	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54957	-0.8215	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4626;4627	Q2LD37-4;Q2LD37	.;K1109_HUMAN	L	4627;4627;1296;228	ENSP00000264501:P4627L;ENSP00000373390:P4627L;ENSP00000410874:P1296L	ENSP00000264501:P4627L	P	+	2	0	KIAA1109	123493539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCT		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		94	409	0	0	0	1	0	94	409					T	123274089	C	T	123274089	3	4	79	1	0	0	0	0	1	0	0	0	8238	681	24	2	14194	2	KIAA1109	4	123274089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16005	123274089	67880187	5624	15941											
KIAA1109	84162	broad.mit.edu	37	chr4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcactgaccacatttgtGtgactatggatgctgagctc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109	4855					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACATTTGTGTGACTATGGA	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14563-14565)Gtg>Atg		KIAA1109							160	154	156					4																	123277838		1909	4124	6033	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123277838G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14563G>A	4.37:g.123277838G>A	ENSP00000264501:p.Val4855Met					KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M	p.V4855M			Q2LD37	K1109_HUMAN			84	14936	+			4855					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14563G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379860	0.95945	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.57436	0.4;0.4;0.4	5.9	5.9	0.94986	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	4854;4855	Q2LD37-4;Q2LD37	.;K1109_HUMAN	M	4855;4855;1524;456	ENSP00000264501:V4855M;ENSP00000373390:V4855M;ENSP00000410874:V1524M	ENSP00000264501:V4855M	V	+	1	0	KIAA1109	123497288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.800000	0.96347	0.655000	0.94253	GTG		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		66	328	0	0	0	1	0	66	328					A	123277838	G	A	123277838	3	1	79	1	0	0	0	0	1	0	0	0	8238	1377	48	2	14889	2	KIAA1109	4	123277838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3749	123277838	67876438	5625	15942											
ADAD1	132612	broad.mit.edu	37	chr4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgtggagagataaatcCtgtgtcagccttgcaccagt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000296513.2	+	4	475	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	97	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(289-291)cCt>cTt		adenosine deaminase domain containing 1 (testis-specific)							92	101	98					4																	123302264		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302264C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.290C>T	4.37:g.123302264C>T	ENSP00000296513:p.Pro97Leu					ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L	p.P97L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	475	+			97			DRBM.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.290C>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278034	0.80692	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.23	4.37	0.52481	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058440	0.64402	D	0.000001	D	0.88897	0.6562	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	D	0.90180	0.4242	10	0.87932	D	0	-17.469	13.1832	0.59666	0.0:0.9193:0.0:0.0807	.	97;97	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	97;97;97;97;79	ENSP00000390510:P97L;ENSP00000296513:P97L;ENSP00000397254:P97L;ENSP00000373376:P97L;ENSP00000373377:P79L	ENSP00000296513:P97L	P	+	2	0	ADAD1	123521714	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.958000	0.76025	2.423000	0.82170	0.563000	0.77884	CCT		0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		82	443	0	0	0	1	0	82	443					T	123302264	C	T	123302264	3	4	79	1	0	0	0	0	1	0	0	0	231	681	24	2	296	2	ADAD1	4	123302264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24426	123302264	67852012	5626	15943											
ADAD1	132612	broad.mit.edu	37	chr4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaagaattacttgaagCtggtacatatcatgcagcta	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000296513.2	+	12	1780	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	532	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACTTGAAGCTGGTACATAT	0.338																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1594-1596)gCt>gTt		adenosine deaminase domain containing 1 (testis-specific)							73	71	72					4																	123342523		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123342523C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1595C>T	4.37:g.123342523C>T	ENSP00000296513:p.Ala532Val					ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V	p.A532V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			12	1780	+			532			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1595C>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338793	0.05243	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	4.93	3.15	0.36227	Adenosine deaminase/editase (3);	0.353444	0.30859	N	0.008732	D	0.84620	0.5512	N	0.25485	0.75	0.28122	N	0.930573	B;B	0.25667	0.009;0.131	B;B	0.26310	0.022;0.068	T	0.69982	-0.4997	10	0.13853	T	0.58	-11.4565	5.6847	0.17797	0.1681:0.6553:0.0:0.1766	.	521;532	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	532;521;514	ENSP00000296513:A532V;ENSP00000373376:A521V;ENSP00000373377:A514V	ENSP00000296513:A532V	A	+	2	0	ADAD1	123561973	0.563000	0.26594	0.999000	0.59377	0.982000	0.71751	1.029000	0.30140	2.277000	0.76020	0.650000	0.86243	GCT		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		15	180	0	0	0	1	0	15	180					T	123342523	C	T	123342523	3	4	79	1	0	0	0	0	1	0	0	0	231	797	28	2	1633	2	ADAD1	4	123342523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40259	123342523	67811753	5627	15944											
IL21	59067	broad.mit.edu	37	chr4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgacgcattctaatcatgTggcgatcttgaccttgggag	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	28					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAATCATGTGGCGATCTTG	0.398																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(103-105)cAc>cGc		interleukin 21							137	131	133					4																	123542063		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542063T>C	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.104A>G	4.37:g.123542063T>C	ENSP00000264497:p.His35Arg					IL21-AS1_ENST00000417927.1_RNA	p.H35R	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	161	-			28					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.104A>G	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292013	0.23564	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-1.7	0.08159	.	1.503550	0.03896	N	0.279500	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13072	-1.0523	9	0.23302	T	0.38	0.9318	1.9273	0.03319	0.3357:0.2071:0.0705:0.3867	.	28;28	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	R	35	.	ENSP00000264497:H35R	H	-	2	0	IL21	123761513	0.008000	0.16893	0.794000	0.32065	0.895000	0.52256	0.074000	0.14662	0.048000	0.15891	-0.339000	0.08088	CAC		0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		10	360	0	0	0	1	0	10	360					C	123542063	T	C	123542063	3	2	79	1	0	0	0	0	1	0	0	0	7700	1696	59	4	404	4	IL21	4	123542063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199540	123542063	67612213	5628	15945											
BBS12	166379	broad.mit.edu	37	chr4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcgtaaacaaaagaagaCacatgggacttcaacaactt	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000314218.3	+	2	230	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	13					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(37-39)Cac>Aac		Bardet-Biedl syndrome 12							85	84	85					4																	123663084		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663084C>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.37C>A	4.37:g.123663084C>A	ENSP00000319062:p.His13Asn					BBS12_ENST00000314218.3_Missense_Mutation_p.H13N	p.H13N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	418	+			13					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.37C>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262943	0.80358	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.69040	-0.37;-0.37;-0.37	4.9	4.9	0.64082	.	0.056728	0.64402	D	0.000002	T	0.80486	0.4632	M	0.66939	2.045	0.48341	D	0.999632	D	0.89917	1.0	D	0.69307	0.963	T	0.82733	-0.0311	10	0.72032	D	0.01	-2.5257	18.47	0.90769	0.0:1.0:0.0:0.0	.	13	Q6ZW61	BBS12_HUMAN	N	13	ENSP00000319062:H13N;ENSP00000438273:H13N;ENSP00000398912:H13N	ENSP00000319062:H13N	H	+	1	0	BBS12	123882534	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.137000	0.64789	2.430000	0.82344	0.585000	0.79938	CAC		0.333	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		57	251	1	0	1.73933e-33	1	2.06204e-33	57	251					A	123663084	C	A	123663084	3	1	79	1	0	0	0	0	1	0	0	0	1338	478	17	3	39	3	BBS12	4	123663084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121021	123663084	67491192	5629	15946											
BBS12	166379	broad.mit.edu	37	chr4	123664001	123664001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaagaattttcacttgCtgtctaccaggcttacctga	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000314218.3	+	2	1147	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000542236.1_Silent_p.C318C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	318					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(952-954)tgC>tgT		Bardet-Biedl syndrome 12							82	70	74					4																	123664001		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664001C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.954C>T	4.37:g.123664001C>T						BBS12_ENST00000314218.3_Silent_p.C318C	p.C318C	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1335	+			318					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.954C>T	CCDS3728.1																																																																																				0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		27	139	0	0	0	1	0	27	139					T	123664001	C	T	123664001	2	4	79	1	0	0	0	0	0	0	0	1	1338	805	28	2		2	BBS12	4	123664001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	123664001	67490275	5630	15947											
BBS12	166379	broad.mit.edu	37	chr4	123664988	123664988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaactaaatagtagaatTtttaattcagacatttcaaa	4	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664988T>G	ENST00000314218.3	+	2	2134	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	BBS12_ENST00000542236.1_Missense_Mutation_p.I647M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	647					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATAGTAGAATTTTTAATTCAG	0.378									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1939-1941)atT>atG		Bardet-Biedl syndrome 12							46	48	47					4																	123664988		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664988T>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1941T>G	4.37:g.123664988T>G	ENSP00000319062:p.Ile647Met					BBS12_ENST00000314218.3_Missense_Mutation_p.I647M	p.I647M	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2322	+			647					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1941T>G	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731093	0.30684	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70282	-0.47;-0.47	5.63	3.0	0.34707	.	1.298120	0.05026	N	0.473681	T	0.70369	0.3216	L	0.60455	1.87	0.25110	N	0.990721	B	0.19445	0.036	B	0.22152	0.038	T	0.56697	-0.7936	10	0.37606	T	0.19	-30.0686	12.6001	0.56492	0.0:0.0:0.3882:0.6118	.	647	Q6ZW61	BBS12_HUMAN	M	647	ENSP00000319062:I647M;ENSP00000438273:I647M	ENSP00000319062:I647M	I	+	3	3	BBS12	123884438	0.635000	0.27199	0.825000	0.32803	0.174000	0.22865	0.292000	0.19011	0.934000	0.37316	0.533000	0.62120	ATT		0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		6	259	0	0	0	1	0	6	259					G	123664988	T	G	123664988	3	3	79	1	0	0	0	0	1	0	0	0	1338	1829	64	4	1943	4	BBS12	4	123664988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	987	123664988	67489288	5631	15948											
FGF2	11162	broad.mit.edu	37	chr4	123813399	123813399	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgtttcttttttgaaCgattggaatctaataactac	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123813399C>T	ENST00000304430.5	-	0	1169				FGF2_ENST00000608478.1_Nonsense_Mutation_p.R106*|NUDT6_ENST00000608639.1_Intron|FGF2_ENST00000264498.3_Nonsense_Mutation_p.R239*	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CTTTTTTGAACGATTGGAATC	0.313																																						ENST00000264498.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8						c.(715-717)Cga>Tga		fibroblast growth factor 2 (basic)	Pentosan Polysulfate(DB00686)						103	105	104					4																	123813399		2203	4300	6503	SO:0001628	intergenic_variant	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123813399C>T	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813399C>T							p.R239*	NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN			3	783	+			239					A8K756|O95097|Q9UQD9	Nonsense_Mutation	SNP	ENST00000304430.5	37	c.715C>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674484	0.96764	.	.	ENSG00000138685	ENST00000264498	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000264498:R239X	R	+	1	2	FGF2	124032849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.910000	0.56371	2.729000	0.93468	0.650000	0.86243	CGA		0.313	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		73	442	0	0	0	1	0	73	442					T	123813399	C	T	123813399	1	4	79	0	1	0	0	0	0	0	0	0	5873	528	19	1		1	FGF2	4	123813399	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148411	123813399	67340877	5632	15949											
SPATA5	166378	broad.mit.edu	37	chr4	123848884	123848884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtataggtcgaccagtgTtgcttactagtttgaacgga	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.4	+	2	328	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	87					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGACCAGTGTTGCTTACTAG	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(259-261)Ttg>Ctg		spermatogenesis associated 5							134	131	132					4																	123848884		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848884T>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.259T>C	4.37:g.123848884T>C						SPATA5_ENST00000422835.2_3'UTR	p.L87L	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	328	+			87					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.259T>C	CCDS3730.1																																																																																				0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		15	480	0	0	0	1	0	15	480					C	123848884	T	C	123848884	2	2	79	1	0	0	0	0	0	0	0	1	15063	1722	60	4		4	SPATA5	4	123848884	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35485	123848884	67305392	5633	15950											
SPATA5	166378	broad.mit.edu	37	chr4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgataaaaattcaaaagaGcaagacaaccaattcaaagt	5	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.4	+	5	1098	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1027-1029)gaG>gaT		spermatogenesis associated 5							39	40	40					4																	123855775		2202	4300	6502	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855775G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1029G>T	4.37:g.123855775G>T	ENSP00000274008:p.Glu343Asp					SPATA5_ENST00000422835.2_3'UTR	p.E343D	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			5	1098	+			343					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1029G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953680	0.18431	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	4.87	-3.9	0.04181	.	0.467168	0.23496	N	0.047549	D	0.83963	0.5368	L	0.28400	0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71213	-0.4659	10	0.20519	T	0.43	-7.0171	0.6953	0.00898	0.3374:0.277:0.1866:0.1991	.	343;343	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	343	ENSP00000274008:E343D	ENSP00000274008:E343D	E	+	3	2	SPATA5	124075225	0.842000	0.29525	0.004000	0.12327	0.944000	0.59088	0.034000	0.13776	-1.054000	0.03214	0.655000	0.94253	GAG		0.328	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		54	207	1	0	4.78724e-31	1	5.62855e-31	54	207					T	123855775	G	T	123855775	3	4	79	1	0	0	0	0	1	0	0	0	15063	962	34	3	1047	3	SPATA5	4	123855775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6891	123855775	67298501	5634	15951											
SPATA5	166378	broad.mit.edu	37	chr4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttataggctttgatgcggCctggaagaattgatagaatc	11	6	0	4	rs201227451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.0		0.001	False		,,,				2504	0.0					ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2353-2355)Cct>Tct		spermatogenesis associated 5							132	121	125					4																	124177183		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177183C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2353C>T	4.37:g.124177183C>T	ENSP00000274008:p.Pro785Ser						p.P785S	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			15	2422	+			785					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2353C>T	CCDS3730.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.26	3.794047	0.70452	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.57	4.57	0.56435	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000003	D	0.96824	0.8963	L	0.55103	1.725	0.58432	D	0.999995	D	0.62365	0.991	D	0.70935	0.971	D	0.97492	1.0054	10	0.72032	D	0.01	-19.9527	17.5624	0.87910	0.0:1.0:0.0:0.0	.	785	Q8NB90	SPAT5_HUMAN	S	785	ENSP00000274008:P785S	ENSP00000274008:P785S	P	+	1	0	SPATA5	124396633	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.535000	0.73838	2.369000	0.80426	0.467000	0.42956	CCT		0.408	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		43	282	0	0	0	1	0	43	282					T	124177183	C	T	124177183	3	4	79	1	0	0	0	0	1	0	0	0	15063	739	26	2	2411	2	SPATA5	4	124177183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321408	124177183	66977093	5635	15952											
SPATA5	166378	broad.mit.edu	37	chr4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttcaaaccgacgcataCtcaggagcagaggtaagata	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	831					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2491-2493)taC>taA		spermatogenesis associated 5							106	99	102					4																	124177323		2203	4300	6503	SO:0001587	stop_gained	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177323C>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2493C>A	4.37:g.124177323C>A	ENSP00000274008:p.Tyr831*						p.Y831*	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			15	2562	+			831					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	c.2493C>A	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648096	0.96714	.	.	ENSG00000145375	ENST00000274008	.	.	.	4.7	0.182	0.15077	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.753	9.981	0.41813	0.0:0.4256:0.0:0.5744	.	.	.	.	X	831	.	ENSP00000274008:Y831X	Y	+	3	2	SPATA5	124396773	0.872000	0.30054	0.972000	0.41901	0.401000	0.30781	-0.155000	0.10115	0.070000	0.16634	0.557000	0.71058	TAC		0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		73	334	1	0	2.26907e-38	1	2.73382e-38	73	334					A	124177323	C	A	124177323	4	1	79	1	0	0	0	0	0	1	0	0	15063	576	20	3	2551	3	SPATA5	4	124177323	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	124177323	66976953	5636	15953											
ANKRD50	57182	broad.mit.edu	37	chr4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggaaacaattgactgtcGacttctactgcgtggcaatg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1229	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACTGTCGACTTCTACTG	0.413																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3685-3687)Cga>Tga		ankyrin repeat domain 50							204	196	199					4																	125590747		2203	4300	6503	SO:0001587	stop_gained	57182							g.chr4:125590747G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3685C>T	4.37:g.125590747G>A	ENSP00000425658:p.Arg1229*					ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	p.R1229*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4722	-			1229			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	c.3685C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	49	15.225748	0.99827	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.36	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0537	0.58967	0.0:0.0:0.609:0.391	.	.	.	.	X	1229;1050	.	ENSP00000425658:R1229X	R	-	1	2	ANKRD50	125810197	1.000000	0.71417	0.961000	0.40146	0.955000	0.61496	2.587000	0.46128	1.436000	0.47453	0.561000	0.74099	CGA		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		225	956	0	0	0	1	0	225	956					A	125590747	G	A	125590747	4	1	79	1	0	0	0	0	0	1	0	0	677	1066	37	1	608	1	ANKRD50	4	125590747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413424	125590747	65563529	5637	15954											
ANKRD50	57182	broad.mit.edu	37	chr4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgcatgacccatagacGctgctgctaagaggggtgta	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCCATAGACGCTGCTGCTAA	0.458																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2365-2367)gCg>gTg		ankyrin repeat domain 50							142	131	135					4																	125592066		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592066G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2366C>T	4.37:g.125592066G>A	ENSP00000425658:p.Ala789Val					ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	p.A789V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	3403	-			789					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2366C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184636	0.57909	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.46819	1.47	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.72367	-0.4315	10	0.56958	D	0.05	.	18.4729	0.90781	0.0:0.0:1.0:0.0	.	789	Q9ULJ7	ANR50_HUMAN	V	789;610	ENSP00000425658:A789V;ENSP00000425355:A610V	ENSP00000425658:A789V	A	-	2	0	ANKRD50	125811516	1.000000	0.71417	0.916000	0.36221	0.746000	0.42486	9.060000	0.93907	2.606000	0.88127	0.561000	0.74099	GCG		0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		91	380	0	0	0	1	0	91	380					A	125592066	G	A	125592066	3	1	79	1	0	0	0	0	1	0	0	0	677	1087	38	1	1927	1	ANKRD50	4	125592066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1319	125592066	65562210	5638	15955											
ANKRD50	57182	broad.mit.edu	37	chr4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttacacccttcatcaacaGaatcaacaagcaggtatagg	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(577-579)tCt>tAt		ankyrin repeat domain 50							169	170	170					4																	125599995		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125599995G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.578C>A	4.37:g.125599995G>T	ENSP00000425658:p.Ser193Tyr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	p.S193Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1615	-			193					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.578C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736369	0.69189	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83473	0.0060	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	Y	193;14	ENSP00000425658:S193Y;ENSP00000425355:S14Y	ENSP00000425658:S193Y	S	-	2	0	ANKRD50	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT		0.438	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		148	600	1	0	1.12603e-65	1	1.42405e-65	148	600					T	125599995	G	T	125599995	3	4	79	1	0	0	0	0	1	0	0	0	677	942	33	3	3719	3	ANKRD50	4	125599995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7929	125599995	65554281	5639	15956											
FAT4	79633	broad.mit.edu	37	chr4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggtgagcctaagcggCggggctaccttcaggtaaac	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTAAGCGGCGGGGCTACCT	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(691-693)Cgg>Tgg		FAT atypical cadherin 4							34	39	37					4																	126238257		2069	4201	6270	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238257C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.691C>T	4.37:g.126238257C>T	ENSP00000377862:p.Arg231Trp		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R231W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	704	+			231			Cadherin 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.691C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019790	0.35606	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.32430	U	0.006116	T	0.54743	0.1877	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.51325	-0.8720	10	0.37606	T	0.19	.	9.1011	0.36669	0.0:0.7744:0.1487:0.0769	.	231	Q6V0I7	FAT4_HUMAN	W	231	ENSP00000377862:R231W	ENSP00000377862:R231W	R	+	1	2	FAT4	126457707	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.299000	0.43611	1.102000	0.41551	0.655000	0.94253	CGG		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	163	0	0	0	1	0	45	163					T	126238257	C	T	126238257	3	4	79	1	0	0	0	0	1	0	0	0	5717	759	27	1	693	1	FAT4	4	126238257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	638262	126238257	64916019	5640	15957											
FAT4	79633	broad.mit.edu	37	chr4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttcacagcaagtgtAcagagtgaacctgagcgagg	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAAGTGTACAGAGTGAAC	0.542											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1438-1440)tAc>tGc		FAT atypical cadherin 4							43	47	46					4																	126239005		2197	4293	6490	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239005A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1439A>G	4.37:g.126239005A>G	ENSP00000377862:p.Tyr480Cys		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.Y480C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1452	+			480			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1439A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511323	0.44660	.	.	ENSG00000196159	ENST00000394329	T	0.57595	0.39	4.66	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.31859	U	0.006954	T	0.79034	0.4378	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	.	7.4765	0.27378	0.8343:0.0:0.1657:0.0	.	480	Q6V0I7	FAT4_HUMAN	C	480	ENSP00000377862:Y480C	ENSP00000377862:Y480C	Y	+	2	0	FAT4	126458455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	0.831000	0.34780	0.459000	0.35465	TAC		0.542	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		35	153	0	0	0	1	0	35	153					G	126239005	A	G	126239005	3	3	79	1	0	0	0	0	1	0	0	0	5717	391	14	4	1441	4	FAT4	4	126239005	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	748	126239005	64915271	5641	15958											
FAT4	79633	broad.mit.edu	37	chr4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggtccaatactttgctcAcattaaggagaatgagcctg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	697	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTTGCTCACATTAAGGAG	0.478																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2089-2091)cAc>cGc		FAT atypical cadherin 4							90	92	92					4																	126239656		1986	4178	6164	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239656A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2090A>G	4.37:g.126239656A>G	ENSP00000377862:p.His697Arg						p.H697R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2103	+			697			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2090A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.298	0.819281	0.16607	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	5.28	2.88	0.33553	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	U	0.003202	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.29077	0.098	T	0.60762	-0.7199	10	0.21540	T	0.41	.	9.1287	0.36833	0.8521:0.0:0.1479:0.0	.	697	Q6V0I7	FAT4_HUMAN	R	697	ENSP00000377862:H697R	ENSP00000377862:H697R	H	+	2	0	FAT4	126459106	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.443000	0.59994	0.844000	0.35094	0.533000	0.62120	CAC		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		85	348	0	0	0	1	0	85	348					G	126239656	A	G	126239656	3	3	79	1	0	0	0	0	1	0	0	0	5717	159	6	4	2092	4	FAT4	4	126239656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	651	126239656	64914620	5642	15959											
FAT4	79633	broad.mit.edu	37	chr4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatggcatggtactctataGtctgaagcaaaaccccaaga	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	931	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTACTCTATAGTCTGAAGCAA	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2791-2793)aGt>aTt		FAT atypical cadherin 4							58	61	60					4																	126240358		1944	4150	6094	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240358G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2792G>T	4.37:g.126240358G>T	ENSP00000377862:p.Ser931Ile						p.S931I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2805	+			931			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2792G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595127	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.02656	4.21	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	U	0.001073	T	0.17066	0.0410	M	0.81341	2.54	0.80722	D	1	P	0.48230	0.907	D	0.65684	0.937	T	0.00143	-1.1996	10	0.37606	T	0.19	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	931	Q6V0I7	FAT4_HUMAN	I	931	ENSP00000377862:S931I	ENSP00000377862:S931I	S	+	2	0	FAT4	126459808	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	AGT		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	189	1	0	4.0181e-32	1	4.74151e-32	45	189					T	126240358	G	T	126240358	3	4	79	1	0	0	0	0	1	0	0	0	5717	1029	36	3	2794	3	FAT4	4	126240358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	126240358	64913918	5643	15960											
FAT4	79633	broad.mit.edu	37	chr4	126240893	126240893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaattacacattttacttCgaagaagagcagagggctgg	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1109	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTTTACTTCGAAGAAGAGC	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3325-3327)ttC>ttT		FAT atypical cadherin 4							159	153	155					4																	126240893		1853	4077	5930	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240893C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3327C>T	4.37:g.126240893C>T							p.F1109F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3340	+			1109			Cadherin 11.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3327C>T	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		189	759	0	0	0	1	0	189	759					T	126240893	C	T	126240893	2	4	79	1	0	0	0	0	0	0	0	1	5717	883	31	1		1	FAT4	4	126240893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	126240893	64913383	5644	15961											
FAT4	79633	broad.mit.edu	37	chr4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaacattcccatcggtAcatctgtcatttcagtgact	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1437	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCATCGGTACATCTGTCAT	0.418																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4309-4311)Aca>Gca		FAT atypical cadherin 4							152	140	144					4																	126241875		1904	4126	6030	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241875A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4309A>G	4.37:g.126241875A>G	ENSP00000377862:p.Thr1437Ala						p.T1437A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4322	+			1437			Cadherin 14.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4309A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504709	0.26949	.	.	ENSG00000196159	ENST00000394329	T	0.57107	0.42	4.87	3.65	0.41850	Cadherin (3);Cadherin-like (1);	0.297436	0.18242	U	0.147212	T	0.45955	0.1368	M	0.63428	1.95	0.58432	D	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.28235	-1.0050	10	0.10902	T	0.67	.	10.863	0.46837	0.8588:0.0:0.0:0.1412	.	1437	Q6V0I7	FAT4_HUMAN	A	1437	ENSP00000377862:T1437A	ENSP00000377862:T1437A	T	+	1	0	FAT4	126461325	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	5.721000	0.68477	0.850000	0.35239	0.533000	0.62120	ACA		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		60	695	0	0	0	1	0	60	695					G	126241875	A	G	126241875	3	3	79	1	0	0	0	0	1	0	0	0	5717	391	14	4	4311	4	FAT4	4	126241875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	982	126241875	64912401	5645	15962											
FAT4	79633	broad.mit.edu	37	chr4	126242165	126242165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgtttatatcacaaaaCgcccttgctgcagacccatc	5	14	1	1	rs371858685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1533	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCACAAAACGCCCTTGCTG	0.433																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4597-4599)aaC>aaT		FAT atypical cadherin 4		C		0,3912		0,0,1956	160	148	152		4599	-7.1	0.9	4		152	1,8305		0,1,4152	no	coding-synonymous	FAT4	NM_024582.4		0,1,6108	TT,TC,CC		0.012,0.0,0.0082		1533/4982	126242165	1,12217	1956	4153	6109	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242165C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4599C>T	4.37:g.126242165C>T							p.N1533N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4612	+			1533			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4599C>T	CCDS3732.3																																																																																				0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		166	750	0	0	0	1	0	166	750					T	126242165	C	T	126242165	2	4	79	1	0	0	0	0	0	0	0	1	5717	535	19	1		1	FAT4	4	126242165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	126242165	64912111	5646	15963											
FAT4	79633	broad.mit.edu	37	chr4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatggagaaatagagtatgaGatcatcaatggggacacaga	12	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1566	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGAGTATGAGATCATCAATG	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4696-4698)gaG>gaT		FAT atypical cadherin 4							134	130	131					4																	126242264		2019	4201	6220	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242264G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4698G>T	4.37:g.126242264G>T	ENSP00000377862:p.Glu1566Asp						p.E1566D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4711	+			1566			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4698G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148265	0.57151	.	.	ENSG00000196159	ENST00000394329	T	0.52526	0.66	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.56046	0.1959	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47787	-0.9090	10	0.23891	T	0.37	.	10.7952	0.46455	0.1381:0.0:0.8619:0.0	.	1566	Q6V0I7	FAT4_HUMAN	D	1566	ENSP00000377862:E1566D	ENSP00000377862:E1566D	E	+	3	2	FAT4	126461714	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.768000	0.26590	2.420000	0.82092	0.655000	0.94253	GAG		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		151	666	1	0	1.19641e-65	1	1.51299e-65	151	666					T	126242264	G	T	126242264	3	4	79	1	0	0	0	0	1	0	0	0	5717	933	33	3	4700	3	FAT4	4	126242264	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	126242264	64912012	5647	15964											
FAT4	79633	broad.mit.edu	37	chr4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatctgaggccccaGtggagtattatattgtttca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1663	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGGCCCCAGTGGAGTATTA	0.418																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4987-4989)Gtg>Atg		FAT atypical cadherin 4							84	85	85					4																	126242553		1846	4084	5930	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242553G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4987G>A	4.37:g.126242553G>A	ENSP00000377862:p.Val1663Met						p.V1663M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	5000	+			1663			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4987G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212870	0.58452	.	.	ENSG00000196159	ENST00000394329	T	0.43294	0.95	4.34	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.62171	0.2406	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68205	-0.5470	10	0.72032	D	0.01	.	17.0734	0.86580	0.0:0.0:1.0:0.0	.	1663	Q6V0I7	FAT4_HUMAN	M	1663	ENSP00000377862:V1663M	ENSP00000377862:V1663M	V	+	1	0	FAT4	126462003	1.000000	0.71417	0.892000	0.35008	0.406000	0.30931	9.392000	0.97252	2.263000	0.75096	0.650000	0.86243	GTG		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		118	501	0	0	0	1	0	118	501					A	126242553	G	A	126242553	3	1	79	1	0	0	0	0	1	0	0	0	5717	1029	36	2	4989	2	FAT4	4	126242553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289	126242553	64911723	5648	15965											
FAT4	79633	broad.mit.edu	37	chr4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggttcgctatggcattgTtaatggtaataccaatcagg	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2194	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGGCATTGTTAATGGTAAT	0.418																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6580-6582)gTt>gCt		FAT atypical cadherin 4							168	152	158					4																	126336699		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336699T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6581T>C	4.37:g.126336699T>C	ENSP00000377862:p.Val2194Ala					FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	p.V2194A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6594	+			2194			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6581T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059170	0.07317	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.260892	0.18847	U	0.129510	T	0.39784	0.1091	L	0.35793	1.09	0.09310	N	1	B;B	0.19935	0.022;0.04	B;B	0.27262	0.026;0.078	T	0.23440	-1.0188	10	0.09843	T	0.71	.	15.8	0.78447	0.0:0.0:0.0:1.0	.	492;2194	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2194;492	ENSP00000377862:V2194A;ENSP00000335169:V492A	ENSP00000335169:V492A	V	+	2	0	FAT4	126556149	0.542000	0.26426	0.005000	0.12908	0.057000	0.15508	4.622000	0.61240	2.135000	0.66039	0.455000	0.32223	GTT		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		125	492	0	0	0	1	0	125	492					C	126336699	T	C	126336699	3	2	79	1	0	0	0	0	1	0	0	0	5717	1725	60	4	6599	4	FAT4	4	126336699	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94146	126336699	64817577	5649	15966											
FAT4	79633	broad.mit.edu	37	chr4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatacctccacggtcagcaTtgttctactggatattaatg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2247	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGTCAGCATTGTTCTACTG	0.423																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6739-6741)aTt>aCt		FAT atypical cadherin 4							96	94	95					4																	126336858		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336858T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6740T>C	4.37:g.126336858T>C	ENSP00000377862:p.Ile2247Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	p.I2247T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6753	+			2247			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6740T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.84019	0.5380	H	0.96604	3.85	0.58432	D	0.999993	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	D	0.89618	0.3846	10	0.87932	D	0	.	15.5516	0.76158	0.0:0.0:0.0:1.0	.	545;2247	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2247;545	ENSP00000377862:I2247T;ENSP00000335169:I545T	ENSP00000335169:I545T	I	+	2	0	FAT4	126556308	1.000000	0.71417	0.041000	0.18516	0.002000	0.02628	7.880000	0.87243	2.075000	0.62263	0.460000	0.39030	ATT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		79	296	0	0	0	1	0	79	296					C	126336858	T	C	126336858	3	2	79	1	0	0	0	0	1	0	0	0	5717	1493	52	4	6758	4	FAT4	4	126336858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	126336858	64817418	5650	15967											
FAT4	79633	broad.mit.edu	37	chr4	126369632	126369632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggttcctttgtctttgcGgttacagtcacagatgctga	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7459-7461)gcG>gcA		FAT atypical cadherin 4							89	90	90					4																	126369632		2203	4299	6502	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369632G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7461G>A	4.37:g.126369632G>A						FAT4_ENST00000335110.5_Silent_p.A785A	p.A2487A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7474	+			2487			Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.7461G>A	CCDS3732.3																																																																																				0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		79	458	0	0	0	1	0	79	458					A	126369632	G	A	126369632	2	1	79	1	0	0	0	0	0	0	0	1	5717	1103	39	1		1	FAT4	4	126369632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32774	126369632	64784644	5651	15968											
FAT4	79633	broad.mit.edu	37	chr4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatagtgacatcttcagatCgaggtaaaccttccttaatt	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2958	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTCAGATCGAGGTAAACC	0.333																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8872-8874)Cga>Tga		FAT atypical cadherin 4							69	70	70					4																	126371043		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371043C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8872C>T	4.37:g.126371043C>T	ENSP00000377862:p.Arg2958*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	p.R2958*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8885	+			2958			Cadherin 28.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.8872C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	50	16.322416	0.99860	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.34	4.49	0.54785	.	0.000000	0.30311	U	0.009916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.4453	0.61138	0.2856:0.7144:0.0:0.0	.	.	.	.	X	2958;1256	.	ENSP00000335169:R1256X	R	+	1	2	FAT4	126590493	0.993000	0.37304	0.947000	0.38551	0.929000	0.56500	0.941000	0.29005	1.377000	0.46286	0.655000	0.94253	CGA		0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	286	0	0	0	1	0	56	286					T	126371043	C	T	126371043	4	4	79	1	0	0	0	0	0	1	0	0	5717	876	31	1	8906	1	FAT4	4	126371043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1411	126371043	64783233	5652	15969											
FAT4	79633	broad.mit.edu	37	chr4	126371527	126371527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagagatagagatgcagCgatgaatggcttgattaagt	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371527C>T	ENST00000394329.3	+	9	9369	c.9356C>T	c.(9355-9357)gCg>gTg	p.A3119V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3119	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAGATGCAGCGATGAATGGC	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9355-9357)gCg>gTg		FAT atypical cadherin 4							73	69	70					4																	126371527		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371527C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9356C>T	4.37:g.126371527C>T	ENSP00000377862:p.Ala3119Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	p.A3119V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9369	+			3119			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9356C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303988	0.40795	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.60715	0.2290	L	0.56199	1.76	0.47065	D	0.999304	P;D;D	0.69078	0.948;0.992;0.997	B;P;P	0.55345	0.301;0.689;0.774	T	0.63065	-0.6720	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1417;3119;3119	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3119;1417	ENSP00000377862:A3119V;ENSP00000335169:A1417V	ENSP00000335169:A1417V	A	+	2	0	FAT4	126590977	0.997000	0.39634	0.173000	0.22940	0.068000	0.16541	4.202000	0.58446	2.652000	0.90054	0.655000	0.94253	GCG		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		29	309	0	0	0	1	0	29	309					T	126371527	C	T	126371527	3	4	79	1	0	0	0	0	1	0	0	0	5717	768	27	1	9390	1	FAT4	4	126371527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	126371527	64782749	5653	15970											
FAT4	79633	broad.mit.edu	37	chr4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagaaacccaagtatctGcagtgcagaccatgggaggt	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4806					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAGTATCTGCAGTGCAGAC	0.522																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14416-14418)tGc>tAc		FAT atypical cadherin 4							59	61	60					4																	126412394		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412394G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14417G>A	4.37:g.126412394G>A	ENSP00000377862:p.Cys4806Tyr					FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	p.C4806Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14430	+			4806					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14417G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478360	0.44044	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75589	-0.75;-0.95	4.87	4.87	0.63330	.	0.000000	0.37761	U	0.001958	D	0.83138	0.5189	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.84756	0.0759	10	0.59425	D	0.04	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3047;4806;4805	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	4806;3047	ENSP00000377862:C4806Y;ENSP00000335169:C3047Y	ENSP00000335169:C3047Y	C	+	2	0	FAT4	126631844	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.135000	0.77276	2.253000	0.74438	0.491000	0.48974	TGC		0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		26	375	0	0	0	1	0	26	375					A	126412394	G	A	126412394	3	1	79	1	0	0	0	0	1	0	0	0	5717	1319	46	2	14483	2	FAT4	4	126412394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40867	126412394	64741882	5654	15971											
FAT4	79633	broad.mit.edu	37	chr4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacacactgcccatgaagCtagggcagcaagcagggact	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4921					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCATGAAGCTAGGGCAGCA	0.557																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14761-14763)Cta>Ata		FAT atypical cadherin 4							60	57	58					4																	126412738		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412738C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14761C>A	4.37:g.126412738C>A	ENSP00000377862:p.Leu4921Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	p.L4921I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14774	+			4921					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14761C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375834	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.79;-0.96	4.67	4.67	0.58626	.	0.000000	0.29508	U	0.011943	T	0.80660	0.4665	L	0.51422	1.61	0.53688	D	0.999976	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60789	0.879;0.76;0.879	T	0.79398	-0.1820	10	0.36615	T	0.2	.	16.7563	0.85499	0.0:1.0:0.0:0.0	.	3162;4921;4920	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4921;3162	ENSP00000377862:L4921I;ENSP00000335169:L3162I	ENSP00000335169:L3162I	L	+	1	2	FAT4	126632188	1.000000	0.71417	0.975000	0.42487	0.123000	0.20343	4.446000	0.60014	2.425000	0.82216	0.491000	0.48974	CTA		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		58	227	1	0	1.13205e-32	1	1.33805e-32	58	227					A	126412738	C	A	126412738	3	1	79	1	0	0	0	0	1	0	0	0	5717	796	28	3	14827	3	FAT4	4	126412738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344	126412738	64741538	5655	15972											
INTU	27152	broad.mit.edu	37	chr4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccgaggattactatgAcatgaggcggctgtatacaa	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	507					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATTACTATGACATGAGGCGG	0.313																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1519-1521)gAc>gGc		inturned planar cell polarity protein							122	125	124					4																	128625399		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128625399A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1520A>G	4.37:g.128625399A>G	ENSP00000334003:p.Asp507Gly					INTU_ENST00000512995.1_3'UTR	p.D507G	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			10	1623	+			507					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1520A>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890620	0.33348	.	.	ENSG00000164066	ENST00000335251	T	0.32515	1.45	5.14	5.14	0.70334	.	0.166700	0.52532	D	0.000064	T	0.22627	0.0546	N	0.21142	0.635	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.03483	-1.1032	10	0.31617	T	0.26	-15.4633	14.7898	0.69830	1.0:0.0:0.0:0.0	.	507	Q9ULD6	PDZD6_HUMAN	G	507	ENSP00000334003:D507G	ENSP00000334003:D507G	D	+	2	0	INTU	128844849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.459000	0.60102	2.158000	0.67659	0.454000	0.30748	GAC		0.313	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		107	369	0	0	0	1	0	107	369					G	128625399	A	G	128625399	3	3	79	1	0	0	0	0	1	0	0	0	7816	275	10	4	1558	4	INTU	4	128625399	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2212661	128625399	62528877	5656	15973											
INTU	27152	broad.mit.edu	37	chr4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacacacttttccactacGttgccttagaaacagtgcaa	6	11	0	2	rs371347616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	803					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTTCCACTACGTTGCCTTAGA	0.353																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2407-2409)Gtt>Ttt		inturned planar cell polarity protein							111	103	106					4																	128632105		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128632105G>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2407G>T	4.37:g.128632105G>T	ENSP00000334003:p.Val803Phe						p.V803F	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			14	2510	+			803					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2407G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338805	0.60963	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	4.68	0.58851	.	0.147144	0.45606	D	0.000357	T	0.68805	0.3041	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.71388	-0.4608	9	0.72032	D	0.01	-11.6227	4.8369	0.13469	0.0767:0.3001:0.4844:0.1389	.	803	Q9ULD6	PDZD6_HUMAN	F	803	.	ENSP00000334003:V803F	V	+	1	0	INTU	128851555	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	2.508000	0.45450	1.534000	0.49203	0.650000	0.86243	GTT		0.353	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		83	277	1	0	2.05912e-35	1	2.45818e-35	83	277					T	128632105	G	T	128632105	3	4	79	1	0	0	0	0	1	0	0	0	7816	1145	40	3	2461	3	INTU	4	128632105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	128632105	62522171	5657	15974											
SLC25A31	83447	broad.mit.edu	37	chr4	128688339	128688339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagggcatcattgtgtaCcgagcctcttattttggagc	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(595-597)taC>taT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							186	182	184					4																	128688339		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688339C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"Solute carriers"	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.597C>T	4.37:g.128688339C>T							p.Y199Y	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	765	+			199						Silent	SNP	ENST00000281154.4	37	c.597C>T	CCDS3733.1																																																																																				0.358	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		132	703	0	0	0	1	0	132	703					T	128688339	C	T	128688339	2	4	79	1	0	0	0	0	0	0	0	1	14545	518	18	2		2	SLC25A31	4	128688339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56234	128688339	62465937	5658	15975											
HSPA4L	22824	broad.mit.edu	37	chr4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtttagggcctgtatatCattgggatcaagaactcgag	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	40					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTGTATATCATTGGGATCA	0.328																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(118-120)tCa>tTa		heat shock 70kDa protein 4-like							144	146	146					4																	128715243		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128715243C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.119C>T	4.37:g.128715243C>T	ENSP00000296464:p.Ser40Leu					HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L	p.S40L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			2	530	+			40					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.119C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558041	0.86231	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01599	5.34;5.34;5.34;4.74;5.34	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.89095	3.005	0.80722	D	1	B;B;B	0.34147	0.438;0.124;0.124	B;B;B	0.41946	0.371;0.068;0.068	T	0.00849	-1.1541	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:1.0:0.0:0.0	.	14;40;40	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	40;71;40;40;14	ENSP00000422482:S40L;ENSP00000393926:S71L;ENSP00000296464:S40L;ENSP00000427305:S40L;ENSP00000425645:S14L	ENSP00000296464:S40L	S	+	2	0	HSPA4L	128934693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.899000	0.75682	2.385000	0.81259	0.561000	0.74099	TCA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		118	609	0	0	0	1	0	118	609					T	128715243	C	T	128715243	3	4	79	1	0	0	0	0	1	0	0	0	7443	838	29	2	125	2	HSPA4L	4	128715243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26904	128715243	62439033	5659	15976											
PLK4	10733	broad.mit.edu	37	chr4	128815033	128815033	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcaccaatccttaatccCtctgtaagtaaatatatgtc	5	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	ENST00000270861.5	+	13	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P|PLK4_ENST00000513090.1_Silent_p.P821P|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	853					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						tccttaatccctctgtaagta	0.388																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2557-2559)ccC>ccA		polo-like kinase 4							56	55	55					4																	128815033		2203	4300	6503	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128815033C>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2559C>A	4.37:g.128815033C>A						PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000515069.1_Silent_p.P775P|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000514379.1_Silent_p.P812P	p.P853P	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			13	2833	+			853					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.2559C>A	CCDS3735.1																																																																																				0.388	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			37	186	1	0	2.20474e-14	1	2.39557e-14	37	186					A	128815033	C	A	128815033	2	1	79	1	0	0	0	0	0	0	0	1	12140	668	24	3		3	PLK4	4	128815033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99790	128815033	62339243	5660	15977											
MFSD8	256471	broad.mit.edu	37	chr4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttattcctgaatcctcccAtatcttacagaaagagcaat	5	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	513					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1537-1539)taT>taG		major facilitator superfamily domain containing 8							100	98	98					4																	128841803		2203	4300	6503	SO:0001587	stop_gained	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128841803A>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1539T>G	4.37:g.128841803A>C	ENSP00000296468:p.Tyr513*					MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	p.Y513*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			13	1666	-			513					B2RDM1|B7Z205|Q8N2P3	Nonsense_Mutation	SNP	ENST00000296468.3	37	c.1539T>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	A	35	5.477345	0.96291	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.33	3.11	0.35812	.	0.376195	0.29565	N	0.011790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2271	9.9504	0.41636	0.9176:0.0:0.0824:0.0	.	.	.	.	X	513;468	.	ENSP00000296468:Y513X	Y	-	3	2	MFSD8	129061253	1.000000	0.71417	0.915000	0.36163	0.620000	0.37586	1.365000	0.34182	1.830000	0.53286	0.459000	0.35465	TAT		0.473	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		73	337	0	0	0	1	0	73	337					C	128841803	A	C	128841803	4	2	79	1	0	0	0	0	0	1	0	0	9579	224	8	4	21	4	MFSD8	4	128841803	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26770	128841803	62312473	5661	15978											
MFSD8	256471	broad.mit.edu	37	chr4	128843022	128843022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatggctataccttcccaCtgtattttgggaaattgatt	8	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128843022C>T	ENST00000296468.3	-	11	1222	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	MFSD8_ENST00000513559.1_Silent_p.Q320Q|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373																																						ENST00000296468.3																			1	Substitution - Missense(1)	p.Q365H(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1093-1095)caG>caA		major facilitator superfamily domain containing 8							67	69	69					4																	128843022		2203	4300	6503	SO:0001819	synonymous_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128843022C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1095G>A	4.37:g.128843022C>T						MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	p.Q365Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			11	1222	-			365					B2RDM1|B7Z205|Q8N2P3	Silent	SNP	ENST00000296468.3	37	c.1095G>A	CCDS3736.1																																																																																				0.373	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		7	199	0	0	0	1	0	7	199					T	128843022	C	T	128843022	2	4	79	1	0	0	0	0	0	0	0	1	9579	564	20	2		2	MFSD8	4	128843022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1219	128843022	62311254	5662	15979											
LARP1B	55132	broad.mit.edu	37	chr4	128999013	128999013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagagaaggttgaaaAgagaagtaacagtgacagca	12	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128999013A>C	ENST00000326639.6	+	4	324	c.113A>C	c.(112-114)aAg>aCg	p.K38T	LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	38						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGGTTGAAAAGAGAAGTAAC	0.378																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(112-114)aAg>aCg		La ribonucleoprotein domain family, member 1B							79	82	81					4																	128999013		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:128999013A>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.113A>C	4.37:g.128999013A>C	ENSP00000321997:p.Lys38Thr					LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR	p.K38T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			4	324	+			38					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.113A>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.034923|3.034923	0.54896|0.54896	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.51071	.|1.77;1.33;1.37;0.74;0.72;1.78;1.75;1.33	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.339622|0.339622	0.30028|0.30028	N|N	0.010591|0.010591	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47910	.|0.704;0.873;0.873;0.902	.|B;P;P;B	.|0.47346	.|0.122;0.544;0.544;0.359	T|T	0.40059|0.40059	-0.9583|-0.9583	6|10	.|0.44086	.|T	.|0.13	.|.	12.9379|12.9379	0.58325|0.58325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|38;38;38;38	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	N|T	6|38	.|ENSP00000321997:K38T;ENSP00000422850:K38T;ENSP00000427281:K38T;ENSP00000377829:K38T;ENSP00000390395:K38T;ENSP00000264584:K38T;ENSP00000396521:K38T;ENSP00000403586:K38T	.|ENSP00000264584:K38T	K|K	+|+	3|2	2|0	LARP1B|LARP1B	129218463|129218463	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	4.835000|4.835000	0.62781|0.62781	1.791000|1.791000	0.52520|0.52520	0.386000|0.386000	0.25728|0.25728	AAA|AAG		0.378	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		6	189	0	0	0	1	0	6	189					C	128999013	A	C	128999013	3	2	79	1	0	0	0	0	1	0	0	0	8660	72	3	4	119	4	LARP1B	4	128999013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155991	128999013	62155263	5663	15980											
LARP1B	55132	broad.mit.edu	37	chr4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttaaaaggttggaagcGagatagagaaaaaagggatg	13	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000326639.6	+	6	579	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373																																						ENST00000326639.6																			2	Substitution - Missense(2)	p.R123L(2)	lung(2)	endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(367-369)cGa>cAa		La ribonucleoprotein domain family, member 1B							81	85	83					4																	129012165		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129012165G>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.368G>A	4.37:g.129012165G>A	ENSP00000321997:p.Arg123Gln					LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR	p.R123Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			6	579	+			123			Arg-rich.		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.368G>A	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402398	0.25291	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.46063	1.93;1.48;1.46;0.9;0.88;1.9;1.9;1.49	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.37348	0.1000	L	0.53249	1.67	0.80722	D	1	P;D;B;B	0.60575	0.459;0.988;0.057;0.116	B;P;B;B	0.48227	0.014;0.571;0.011;0.008	T	0.22730	-1.0208	10	0.13108	T	0.6	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	Q	123;123;76;123;123;76;123;123	ENSP00000321997:R123Q;ENSP00000422850:R123Q;ENSP00000427281:R76Q;ENSP00000377829:R123Q;ENSP00000390395:R123Q;ENSP00000264584:R76Q;ENSP00000396521:R123Q;ENSP00000403586:R123Q	ENSP00000264584:R76Q	R	+	2	0	LARP1B	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA		0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		70	311	0	0	0	1	0	70	311					A	129012165	G	A	129012165	3	1	79	1	0	0	0	0	1	0	0	0	8660	1058	37	1	382	1	LARP1B	4	129012165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13152	129012165	62142111	5664	15981											
LARP1B	55132	broad.mit.edu	37	chr4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatggatggaagaagatgaAaacaaacacacagccataaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000326639.6	+	11	1714	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	501						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1501-1503)gaA>gaT		La ribonucleoprotein domain family, member 1B							98	95	96					4																	129043322		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043322A>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1503A>T	4.37:g.129043322A>T	ENSP00000321997:p.Glu501Asp					LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR	p.E501D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			11	1714	+			501					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1503A>T	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962449|2.962449	0.53400|0.53400	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.36878|.	1.72;1.23;1.26;1.75;1.71;1.28|.	4.88|4.88	2.36|2.36	0.29203|0.29203	.|.	0.735154|.	0.12853|.	N|.	0.433769|.	T|.	0.55305|.	0.1912|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P;D;B|.	0.60160|.	0.768;0.987;0.031|.	B;P;B|.	0.55455|.	0.418;0.776;0.043|.	T|.	0.49293|.	-0.8955|.	10|.	0.20519|.	T|.	0.43|.	.|.	7.076|7.076	0.25205|0.25205	0.7959:0.0:0.073:0.1311|0.7959:0.0:0.073:0.1311	.|.	454;501;501|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	D|X	501;501;454;454;501;501|470	ENSP00000321997:E501D;ENSP00000422850:E501D;ENSP00000427281:E454D;ENSP00000264584:E454D;ENSP00000396521:E501D;ENSP00000403586:E501D|.	ENSP00000264584:E454D|.	E|K	+|+	3|1	2|0	LARP1B|LARP1B	129262772|129262772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.475000|0.475000	0.33008|0.33008	2.360000|2.360000	0.44151|0.44151	0.869000|0.869000	0.35703|0.35703	0.491000|0.491000	0.48974|0.48974	GAA|AAA		0.358	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		77	364	0	0	0	1	0	77	364					T	129043322	A	T	129043322	3	4	79	1	0	0	0	0	1	0	0	0	8660	11	1	5	1626	5	LARP1B	4	129043322	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31157	129043322	62110954	5665	15982											
LARP1B	55132	broad.mit.edu	37	chr4	129128500	129128500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaaaacttcaggaatacCtctgtagttttaagaggtta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129128500C>A	ENST00000326639.6	+	19	2720	c.2509C>A	c.(2509-2511)Ctc>Atc	p.L837I	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I|LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	837						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGAATACCTCTGTAGTTT	0.323																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2509-2511)Ctc>Atc		La ribonucleoprotein domain family, member 1B							59	63	61					4																	129128500		2202	4291	6493	SO:0001583	missense	55132						RNA binding	g.chr4:129128500C>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2509C>A	4.37:g.129128500C>A	ENSP00000321997:p.Leu837Ile					LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I	p.L837I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			19	2720	+			837					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2509C>A	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759944	0.69763	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04603	3.59;3.59;3.59	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.78223	2.4	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	T	0.02156	-1.1204	10	0.87932	D	0	.	17.0318	0.86463	0.0:1.0:0.0:0.0	.	47;256;837	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	I	837;778;256	ENSP00000321997:L837I;ENSP00000264584:L778I;ENSP00000346444:L256I	ENSP00000264584:L778I	L	+	1	0	LARP1B	129347950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.602000	0.67612	2.211000	0.71520	0.561000	0.74099	CTC		0.323	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		9	281	1	0	5.4927e-09	1	5.7613e-09	9	281					A	129128500	C	A	129128500	3	1	79	1	0	0	0	0	1	0	0	0	8660	681	24	3	2709	3	LARP1B	4	129128500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85178	129128500	62025776	5666	15983											
PHF17	79960	broad.mit.edu	37	chr4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttcctgtaccagtactgGaagttgaagaggaaggtcaa	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1360-1362)tgG>tgA									101	97	98					4																	129783239		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783239G>A																												ENST00000226319.6:c.1362G>A	4.37:g.129783239G>A	ENSP00000226319:p.Trp454*					PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*	p.W454*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1642	+			454						Nonsense_Mutation	SNP	ENST00000226319.6	37	c.1362G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869016	0.97049	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2619	0.60111	0.076:0.0:0.924:0.0	.	.	.	.	X	454;454;442;454;454;454	.	.	W	+	3	0	PHF17	130002689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	1.347000	0.45714	0.655000	0.94253	TGG		0.502	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			100	352	0	0	0	1	0	100	352					A	129783239	G	A	129783239	4	1	79	1	0	0	0	0	0	1	0	0	11870	1183	41	2	1392	2	PHF17	4	129783239	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	654739	129783239	61371037	5667	15984											
C4orf33	132321	broad.mit.edu	37	chr4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacaaccggaatcagacCtgtggctaatagagaaatgt	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	191										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328																																						ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(571-573)Ctg>Atg		chromosome 4 open reading frame 33							93	91	91					4																	130032917		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130032917C>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.571C>A	4.37:g.130032917C>A	ENSP00000281146:p.Leu191Met					C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			6	1292	+			191					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.571C>A	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448617	0.63178	.	.	ENSG00000151470	ENST00000281146;ENST00000425929	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58429	-0.7638	10	0.66056	D	0.02	-42.9836	18.7332	0.91744	0.0:1.0:0.0:0.0	.	191	Q8N1A6	CD033_HUMAN	M	191	ENSP00000281146:L191M;ENSP00000401090:L191M	ENSP00000281146:L191M	L	+	1	2	C4orf33	130252367	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	2.553000	0.45837	2.722000	0.93159	0.650000	0.86243	CTG		0.328	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		45	225	1	0	9.45407e-15	1	1.02924e-14	45	225					A	130032917	C	A	130032917	3	1	79	1	0	0	0	0	1	0	0	0	2270	680	24	3	589	3	C4orf33	4	130032917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249678	130032917	61121359	5668	15985											
PCDH10	57575	broad.mit.edu	37	chr4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggggaatatcgctgaagatCtgggtctggacattacaaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTGAAGATCTGGGTCTGGA	0.532																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(121-123)Ctg>Atg		protocadherin 10							126	121	122					4																	134071416		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071416C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.121C>A	4.37:g.134071416C>A	ENSP00000264360:p.Leu41Met						p.L41M	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	947	+			41			Cadherin 1.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.121C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640984	0.47153	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59364	0.27	4.77	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35436	N	0.003220	T	0.77579	0.4151	M	0.91140	3.18	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.78234	-0.2283	10	0.87932	D	0	.	8.4123	0.32651	0.0:0.7561:0.0:0.2439	.	41;41	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	41	ENSP00000264360:L41M	ENSP00000264360:L41M	L	+	1	2	PCDH10	134290866	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	0.617000	0.30160	-0.263000	0.10527	CTG		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		16	585	1	0	1.99824e-07	1	2.07512e-07	16	585					A	134071416	C	A	134071416	3	1	79	1	0	0	0	0	1	0	0	0	11549	912	32	3	123	3	PCDH10	4	134071416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4038499	134071416	57082860	5669	15986											
PCDH10	57575	broad.mit.edu	37	chr4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaccgcggtggacggaGgaggtgggggaggagtagga	23	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	207	Cadherin 2. {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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGACggaggaggtggggg	0.692																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(619-621)Gga>Tga		protocadherin 10							32	32	32					4																	134071914		2203	4297	6500	SO:0001587	stop_gained	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071914G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.619G>T	4.37:g.134071914G>T	ENSP00000264360:p.Gly207*						p.G207*	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1445	+			207			Cadherin 2.		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	c.619G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398851	0.99556	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.42	4.42	0.53409	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8044	0.85622	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264360:G207X	G	+	1	0	PCDH10	134291364	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.435000	0.90297	2.261000	0.74972	0.561000	0.74099	GGA		0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		68	245	1	0	1.34159e-35	1	1.60235e-35	68	245					T	134071914	G	T	134071914	4	4	79	1	0	0	0	0	0	1	0	0	11549	1001	35	3	621	3	PCDH10	4	134071914	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	498	134071914	57082362	5670	15987											
PCDH10	57575	broad.mit.edu	37	chr4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcttcctttaagaaTtactacaccatcgttaccga	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTTAAGAATTACTACACCA	0.607																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1231-1233)aaT>aaG		protocadherin 10							152	161	158					4																	134072528		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072528T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1233T>G	4.37:g.134072528T>G	ENSP00000264360:p.Asn411Lys						p.N411K	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2059	+			411			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1233T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806162	0.50421	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.68	0.389	0.16269	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.07593	0.0191	M	0.78223	2.4	0.52501	D	0.999956	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.838	T	0.03619	-1.1019	10	0.51188	T	0.08	.	8.2866	0.31932	0.0:0.6128:0.0:0.3872	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	411	ENSP00000264360:N411K	ENSP00000264360:N411K	N	+	3	2	PCDH10	134291978	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	0.404000	0.20999	0.110000	0.17919	0.459000	0.35465	AAT		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		247	1174	0	0	0	1	0	247	1174					G	134072528	T	G	134072528	3	3	79	1	0	0	0	0	1	0	0	0	11549	1490	52	4	1235	4	PCDH10	4	134072528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	614	134072528	57081748	5671	15988											
PCDH10	57575	broad.mit.edu	37	chr4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgaggtgctgccccgctCggcggagccgggttacctgc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCCCCGCTCGGCGGAGCCG	0.657																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1777-1779)tCg>tTg		protocadherin 10							20	23	22					4																	134073073		2081	4169	6250	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073073C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1778C>T	4.37:g.134073073C>T	ENSP00000264360:p.Ser593Leu						p.S593L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2604	+			593			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1778C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829921	0.50845	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39997	1.05	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	0.000000	0.40144	N	0.001165	T	0.34745	0.0908	L	0.41236	1.265	0.49299	D	0.999777	P;B	0.38455	0.632;0.258	B;B	0.34346	0.18;0.076	T	0.19224	-1.0312	10	0.34782	T	0.22	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	593;593	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	593	ENSP00000264360:S593L	ENSP00000264360:S593L	S	+	2	0	PCDH10	134292523	0.000000	0.05858	1.000000	0.80357	0.413000	0.31143	0.592000	0.23984	2.325000	0.78763	0.655000	0.94253	TCG		0.657	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		71	273	0	0	0	1	0	71	273					T	134073073	C	T	134073073	3	4	79	1	0	0	0	0	1	0	0	0	11549	893	31	1	1780	1	PCDH10	4	134073073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	134073073	57081203	5672	15989											
PCDH10	57575	broad.mit.edu	37	chr4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcagctggtggatggcGccgtggagccccagggcggg	20	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGATGGCGCCGTGGAGCC	0.716																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2044-2046)Gcc>Acc		protocadherin 10							21	27	25					4																	134073339		2191	4276	6467	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073339G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2044G>A	4.37:g.134073339G>A	ENSP00000264360:p.Ala682Thr						p.A682T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2870	+			682			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2044G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658915	0.03454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.62	3.78	0.43462	Cadherin (1);	0.000000	0.44902	D	0.000401	T	0.24890	0.0604	N	0.19112	0.55	0.35519	D	0.801305	P;P	0.35612	0.491;0.512	B;B	0.26416	0.028;0.069	T	0.27088	-1.0084	10	0.27082	T	0.32	.	6.9938	0.24769	0.0899:0.0:0.7385:0.1716	.	682;682	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	682	ENSP00000264360:A682T	ENSP00000264360:A682T	A	+	1	0	PCDH10	134292789	0.569000	0.26643	0.191000	0.23289	0.012000	0.07955	1.811000	0.38942	1.171000	0.42768	-0.136000	0.14681	GCC		0.716	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		62	222	0	0	0	1	0	62	222					A	134073339	G	A	134073339	3	1	79	1	0	0	0	0	1	0	0	0	11549	1087	38	1	2046	1	PCDH10	4	134073339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	134073339	57080937	5673	15990											
PCDH10	57575	broad.mit.edu	37	chr4	134073466	134073466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcatcatcgcgttgggctCggtgtccttcatcttcctgc	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	ENST00000264360.5	+	1	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTTGGGCTCGGTGTCCTTC	0.602																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2170-2172)tCg>tTg		protocadherin 10							97	108	105					4																	134073466		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073466C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2171C>T	4.37:g.134073466C>T	ENSP00000264360:p.Ser724Leu						p.S724L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2997	+			724					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2171C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606999	0.66558	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	4.48	0.54585	.	0.000000	0.40728	N	0.001024	T	0.60090	0.2242	L	0.39326	1.205	0.80722	D	1	D;P	0.76494	0.999;0.876	D;B	0.72625	0.978;0.425	T	0.61637	-0.7022	10	0.49607	T	0.09	.	16.9557	0.86258	0.0:1.0:0.0:0.0	.	724;724	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	724	ENSP00000264360:S724L	ENSP00000264360:S724L	S	+	2	0	PCDH10	134292916	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.487000	0.66863	2.322000	0.78497	0.561000	0.74099	TCG		0.602	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		105	363	0	0	0	1	0	105	363					T	134073466	C	T	134073466	3	4	79	1	0	0	0	0	1	0	0	0	11549	893	31	1	2173	1	PCDH10	4	134073466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	134073466	57080810	5674	15991											
PCDH10	57575	broad.mit.edu	37	chr4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttgggctcggtgtccttcAtcttcctgctggccatgatc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGTCCTTCATCTTCCTGCT	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2182-2184)Atc>Gtc		protocadherin 10							93	104	100					4																	134073477		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073477A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2182A>G	4.37:g.134073477A>G	ENSP00000264360:p.Ile728Val						p.I728V	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3008	+			728					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2182A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470172	0.26423	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	3.29	0.37713	.	0.170949	0.28706	N	0.014403	T	0.28466	0.0704	N	0.13299	0.325	0.51012	D	0.999904	B;B	0.12013	0.005;0.004	B;B	0.19946	0.012;0.027	T	0.04551	-1.0943	10	0.24483	T	0.36	.	9.7391	0.40406	0.9168:0.0:0.0832:0.0	.	728;728	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	728	ENSP00000264360:I728V	ENSP00000264360:I728V	I	+	1	0	PCDH10	134292927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	0.750000	0.32877	0.459000	0.35465	ATC		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		98	368	0	0	0	1	0	98	368					G	134073477	A	G	134073477	3	3	79	1	0	0	0	0	1	0	0	0	11549	217	8	4	2184	4	PCDH10	4	134073477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	134073477	57080799	5675	15992											
PCDH10	57575	broad.mit.edu	37	chr4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcactgaggaatgtaaagCtctgggccactcagatcggt	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	946					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATGTAAAGCTCTGGGCCAC	0.483																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2836-2838)gCt>gAt		protocadherin 10							181	152	162					4																	134084171		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084171C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2837C>A	4.37:g.134084171C>A	ENSP00000264360:p.Ala946Asp						p.A946D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3663	+			946					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2837C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889390	0.91889	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.94	4.94	0.65067	.	0.000000	0.36268	N	0.002697	T	0.58821	0.2149	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59726	-0.7400	10	0.51188	T	0.08	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	946	Q9P2E7	PCD10_HUMAN	D	946	ENSP00000264360:A946D	ENSP00000264360:A946D	A	+	2	0	PCDH10	134303621	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	7.278000	0.78587	2.717000	0.92951	0.650000	0.86243	GCT		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		68	381	1	0	3.78398e-24	1	4.31794e-24	68	381					A	134084171	C	A	134084171	3	1	79	1	0	0	0	0	1	0	0	0	11549	797	28	3	2911	3	PCDH10	4	134084171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10694	134084171	57070105	5676	15993											
PCDH18	54510	broad.mit.edu	37	chr4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagagatgatgtgctgGtatccccagtgtcctcatcg	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000344876.4	-	4	3382	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	999	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATGTGCTGGTATCCCCAGT	0.517																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2995-2997)aCc>aTc		protocadherin 18							88	76	80					4																	138442595		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442595G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2996C>T	4.37:g.138442595G>A	ENSP00000355082:p.Thr999Ile					PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I	p.T999I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3382	-	all_hematologic(180;0.24)		999			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2996C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	4.669	0.124348	0.08931	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53640	0.7;0.7;0.61;1.54;1.53	4.97	2.2	0.27929	.	0.818812	0.10144	N	0.710525	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.017;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.003;0.005;0.004	T	0.26643	-1.0097	10	0.38643	T	0.18	.	5.217	0.15348	0.0705:0.1278:0.5378:0.2639	.	179;778;998;999	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	I	999;998;778;210;179	ENSP00000355082:T999I;ENSP00000390688:T998I;ENSP00000425903:T778I;ENSP00000424269:T210I;ENSP00000425647:T179I	ENSP00000355082:T999I	T	-	2	0	PCDH18	138662045	0.001000	0.12720	0.019000	0.16419	0.673000	0.39480	0.586000	0.23894	0.118000	0.18165	0.655000	0.94253	ACC		0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		70	299	0	0	0	1	0	70	299					A	138442595	G	A	138442595	3	1	79	1	0	0	0	0	1	0	0	0	11555	1261	44	2	415	2	PCDH18	4	138442595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4358424	138442595	52711681	5677	15994											
PCDH18	54510	broad.mit.edu	37	chr4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtatggatgtcacatgatCgtggatcaattatgaagata	11	4	2	3	rs202041043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000344876.4	-	1	2287	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCACATGATCGTGGATCAAT	0.438																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1900-1902)cGa>cAa		protocadherin 18							224	197	206					4																	138451342		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451342C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1901G>A	4.37:g.138451342C>T	ENSP00000355082:p.Arg634Gln					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q	p.R634Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2287	-	all_hematologic(180;0.24)		634			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1901G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594153	0.28445	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	5.93	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.249600	0.20560	N	0.089923	T	0.32496	0.0831	L	0.38733	1.17	0.09310	N	0.999995	B;B;B	0.20671	0.023;0.003;0.047	B;B;B	0.17098	0.012;0.003;0.017	T	0.14839	-1.0458	10	0.25106	T	0.35	.	6.8418	0.23967	0.0:0.5662:0.0:0.4338	.	414;634;634	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	634;634;414	ENSP00000355082:R634Q;ENSP00000390688:R634Q;ENSP00000425903:R414Q	ENSP00000355082:R634Q	R	-	2	0	PCDH18	138670792	0.001000	0.12720	0.964000	0.40570	0.992000	0.81027	1.013000	0.29937	0.791000	0.33826	0.563000	0.77884	CGA		0.438	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		221	906	0	0	0	1	0	221	906					T	138451342	C	T	138451342	3	4	79	1	0	0	0	0	1	0	0	0	11555	884	31	1	1522	1	PCDH18	4	138451342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	138451342	52702934	5678	15995											
PCDH18	54510	broad.mit.edu	37	chr4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccatgtccatgaagctTacaaactatttctccattca	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000344876.4	-	1	1578	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAAGCTTACAAACTATT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1192-1194)Aag>Gag		protocadherin 18							95	101	99					4																	138452051		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452051T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1192A>G	4.37:g.138452051T>C	ENSP00000355082:p.Lys398Glu					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E	p.K398E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1578	-	all_hematologic(180;0.24)		398			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1192A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	9.072	0.997051	0.19043	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.146640	0.30593	N	0.009295	T	0.29749	0.0743	N	0.03967	-0.31	0.80722	D	1	B;B;B	0.33022	0.108;0.006;0.394	B;B;B	0.37015	0.153;0.016;0.239	T	0.25502	-1.0130	10	0.21540	T	0.41	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	178;398;398	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	398;398;178	ENSP00000355082:K398E;ENSP00000390688:K398E;ENSP00000425903:K178E	ENSP00000355082:K398E	K	-	1	0	PCDH18	138671501	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.823000	0.62694	2.313000	0.78055	0.455000	0.32223	AAG		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		88	377	0	0	0	1	0	88	377					C	138452051	T	C	138452051	3	2	79	1	0	0	0	0	1	0	0	0	11555	1763	61	4	2231	4	PCDH18	4	138452051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	138452051	52702225	5679	15996											
PCDH18	54510	broad.mit.edu	37	chr4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacttgcttgaaaagagTcaaatgtcctctttcagaat	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000344876.4	-	1	1305	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAAAAGAGTCAAATGTCCT	0.378																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(919-921)Act>Cct		protocadherin 18							36	40	39					4																	138452324		2201	4299	6500	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452324T>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.919A>C	4.37:g.138452324T>G	ENSP00000355082:p.Thr307Pro					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P	p.T307P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1305	-	all_hematologic(180;0.24)		307			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.919A>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387495	0.42308	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.53;0.53;0.53	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.81513	0.4838	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.86612	0.1873	10	0.52906	T	0.07	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	87;307;307	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	307;307;87	ENSP00000355082:T307P;ENSP00000390688:T307P;ENSP00000425903:T87P	ENSP00000355082:T307P	T	-	1	0	PCDH18	138671774	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.093000	0.71422	2.250000	0.74265	0.455000	0.32223	ACT		0.378	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		43	203	0	0	0	1	0	43	203					G	138452324	T	G	138452324	3	3	79	1	0	0	0	0	1	0	0	0	11555	1667	58	4	2504	4	PCDH18	4	138452324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273	138452324	52701952	5680	15997											
SLC7A11	23657	broad.mit.edu	37	chr4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttaggagagatgaagattCctgctccaatgatggtgcca	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	61					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GATGAAGATTCCTGCTCCAAT	0.542																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(181-183)gGa>gTa		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						139	116	124					4																	139163042		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139163042C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.182G>T	4.37:g.139163042C>A	ENSP00000280612:p.Gly61Val						p.G61V	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			1	461	-	all_hematologic(180;0.166)		61					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.182G>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240873	0.95272	.	.	ENSG00000151012	ENST00000280612	D	0.92911	-3.13	6.03	6.03	0.97812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	61	Q9UPY5	XCT_HUMAN	V	61	ENSP00000280612:G61V	ENSP00000280612:G61V	G	-	2	0	SLC7A11	139382492	1.000000	0.71417	0.804000	0.32291	0.976000	0.68499	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GGA		0.542	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			75	334	1	0	2.51111e-31	1	2.95558e-31	75	334					A	139163042	C	A	139163042	3	1	79	1	0	0	0	0	1	0	0	0	14744	855	30	3	1371	3	SLC7A11	4	139163042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710718	139163042	51991234	5681	15998											
NAA15	80155	broad.mit.edu	37	chr4	140270711	140270711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgggcctattacaaaGgcttggaaaaagcactcaag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140270711G>T	ENST00000296543.5	+	7	1110	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	263					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTATTACAAAGGCTTGGAAAA	0.343																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(787-789)Ggc>Tgc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							49	46	47					4																	140270711		1797	4075	5872	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140270711G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.787G>T	4.37:g.140270711G>T	ENSP00000296543:p.Gly263Cys					NAA15_ENST00000398947.1_Missense_Mutation_p.G263C|NAA15_ENST00000480277.2_3'UTR	p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			7	1110	+			263					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.787G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766563	0.90020	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.53857	0.6;0.6	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.113779	0.64402	D	0.000011	T	0.74176	0.3682	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	T	0.76063	-0.3096	10	0.62326	D	0.03	-5.8465	19.4586	0.94906	0.0:0.0:1.0:0.0	.	263	Q9BXJ9	NAA15_HUMAN	C	263;137;263	ENSP00000296543:G263C;ENSP00000381920:G263C	ENSP00000296543:G263C	G	+	1	0	NAA15	140490161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	GGC		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		8	172	1	0	5.18039e-06	1	5.32547e-06	8	172					T	140270711	G	T	140270711	3	4	79	1	0	0	0	0	1	0	0	0	10159	1000	35	3	813	3	NAA15	4	140270711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1107669	140270711	50883565	5682	15999											
MGST2	4258	broad.mit.edu	37	chr4	140599697	140599697	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttccctttacttgcagGttattttgctttgcaagttg	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20N	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	20					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|leukotriene biosynthetic process (GO:0019370)|oxidation-reduction process (GO:0055114)|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)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Busulfan(DB01008)|Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398																																						ENST00000265498.1																			0				lung(1)|ovary(1)	2						c.e2-1		microsomal glutathione S-transferase 2	Glutathione(DB00143)						93	87	89					4																	140599697		2203	4300	6503	SO:0001630	splice_region_variant	4258				glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity	g.chr4:140599697G>A	U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	2.5.1.18	"Glutathione S-transferases / Microsomal"	7063	protein-coding gene	gene with protein product		601733				8703034	Standard	NM_002413		Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.59-1G>A	4.37:g.140599697G>A						MGST2_ENST00000506797.1_Splice_Site_p.S20_splice|MGST2_ENST00000515137.1_Intron	p.S20_splice	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN			2	311	+	all_hematologic(180;0.162)		20					D6RBB5|Q7Z5B8	Splice_Site	SNP	ENST00000265498.1	37	c.58_splice	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345809	0.41599	.	.	ENSG00000085871	ENST00000265498;ENST00000506797	T;T	0.68765	0.37;-0.35	5.25	-0.316	0.12743	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.228496	0.35646	N	0.003078	T	0.49012	0.1532	L	0.52364	1.645	0.29147	N	0.878651	B	0.12630	0.006	B	0.12156	0.007	T	0.21042	-1.0257	9	.	.	.	.	1.4533	0.02380	0.1712:0.1329:0.4008:0.2952	.	20	Q99735	MGST2_HUMAN	N	20	ENSP00000265498:S20N;ENSP00000424278:S20N	.	S	+	2	0	MGST2	140819147	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	0.295000	0.19065	0.185000	0.20105	0.561000	0.74099	AGT		0.398	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	NM_002413	Missense_Mutation	31	136	0	0	0	1	0	31	136					A	140599697	G	A	140599697	5	1	79	1	0	0	0	0	0	0	1	0	9602	1275	44	2	65	2	MGST2	4	140599697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328986	140599697	50554579	5683	16000											
MAML3	55534	broad.mit.edu	37	chr4	140640600	140640600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacccccagctccgtcGccactgtaattgtatgacac	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(3292-3294)ggC>ggT		mastermind-like 3 (Drosophila)							60	67	65					4																	140640600		2172	4285	6457	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140640600G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3294C>T	4.37:g.140640600G>A						MGST2_ENST00000515137.1_Intron	p.G1098G	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	4150	-	all_hematologic(180;0.162)		1094						Silent	SNP	ENST00000509479.2	37	c.3294C>T	CCDS54805.1																																																																																				0.607	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			48	292	0	0	0	1	0	48	292					A	140640600	G	A	140640600	2	1	79	1	0	0	0	0	0	0	0	1	9248	1074	38	1		1	MAML3	4	140640600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40903	140640600	50513676	5684	16001											
MAML3	55534	broad.mit.edu	37	chr4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgcctggggagatcccatgGagacatgtgcgaagggagag	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1108-1110)tCc>tAc		mastermind-like 3 (Drosophila)							82	83	83					4																	140811481		1991	4177	6168	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811481G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1109C>A	4.37:g.140811481G>T	ENSP00000421180:p.Ser370Tyr					MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	p.S370Y	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	1965	-	all_hematologic(180;0.162)		370						Missense_Mutation	SNP	ENST00000509479.2	37	c.1109C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642178	0.47153	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.05	5.05	0.67936	.	0.195581	0.43919	D	0.000515	T	0.27169	0.0666	L	0.42245	1.32	0.80722	D	1	P	0.44195	0.828	B	0.40101	0.319	T	0.06972	-1.0797	10	0.62326	D	0.03	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	370	Q96JK9	MAML3_HUMAN	Y	370;214	ENSP00000421180:S370Y	ENSP00000313316:S214Y	S	-	2	0	MAML3	141030931	1.000000	0.71417	0.945000	0.38365	0.714000	0.41099	6.123000	0.71614	2.318000	0.78349	0.650000	0.86243	TCC		0.582	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			88	366	1	0	2.43516e-34	1	2.89639e-34	88	366					T	140811481	G	T	140811481	3	4	79	1	0	0	0	0	1	0	0	0	9248	1174	41	3	2315	3	MAML3	4	140811481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170881	140811481	50342795	5685	16002											
CLGN	1047	broad.mit.edu	37	chr4	141310389	141310389	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctagtttagtcctttcGtactcttcttttgcgtactg	6	10	3	0	rs200583755	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	ENST00000325617.5	-	15	2262	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	608					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAGTCCTTTCGTACTCTTCTT	0.373													G|||	8	0.00159744	0.0	0.0	5008	,	,		16077	0.0		0.0	False		,,,				2504	0.0082					ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1822-1824)Cga>Tga		calmegin		G	stop/ARG,stop/ARG	4,4402	8.1+/-20.4	0,4,2199	145	144	144		1822,1822	4.3	1	4		144	0,8600		0,0,4300	yes	stop-gained,stop-gained	CLGN	NM_001130675.1,NM_004362.2	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	608/611,608/611	141310389	4,13002	2203	4300	6503	SO:0001587	stop_gained	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141310389G>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1822C>T	4.37:g.141310389G>A	ENSP00000326699:p.Arg608*					CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*	p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			15	2262	-	all_hematologic(180;0.162)		608					B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP	ENST00000325617.5	37	c.1822C>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998730	0.97990	9.08E-4	0.0	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	.	.	.	5.22	4.32	0.51571	.	0.173966	0.37348	N	0.002125	.	.	.	.	.	.	0.31086	N	0.711327	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2011	15.6991	0.77528	0.0:0.0:0.8631:0.1369	.	.	.	.	X	608;608;608;525	.	ENSP00000326699:R608X	R	-	1	2	CLGN	141529839	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	6.257000	0.72480	2.584000	0.87258	0.591000	0.81541	CGA		0.373	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		16	407	0	0	0	1	0	16	407					A	141310389	G	A	141310389	4	1	79	1	0	0	0	0	0	1	0	0	3533	1153	40	1	14	1	CLGN	4	141310389	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	498908	141310389	49843887	5686	16003											
CLGN	1047	broad.mit.edu	37	chr4	141316994	141316994	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatagttaggattatcgacCagtggaggtctccatactcc	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000537281.1_Silent_p.L376L|CLGN_ENST00000414773.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	376					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATTATCGACCAGTGGAGGTC	0.378																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1126-1128)ctG>ctT		calmegin							103	97	99					4																	141316994		2203	4300	6503	SO:0001819	synonymous_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141316994C>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1128G>T	4.37:g.141316994C>A						CLGN_ENST00000537281.1_Silent_p.L376L|CLGN_ENST00000414773.1_Silent_p.L376L	p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1568	-	all_hematologic(180;0.162)		376					B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	c.1128G>T	CCDS3751.1																																																																																				0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		59	302	1	0	1.8515e-17	1	2.0452e-17	59	302					A	141316994	C	A	141316994	2	1	79	1	0	0	0	0	0	0	0	1	3533	581	21	3		3	CLGN	4	141316994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6605	141316994	49837282	5687	16004											
CLGN	1047	broad.mit.edu	37	chr4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcatcaagccagccaGcaggtttaacaacacttgaa	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000537281.1_Missense_Mutation_p.A312V|CLGN_ENST00000414773.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	312					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGCCAGCCAGCAGGTTTAAC	0.348																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(934-936)gCt>gTt		calmegin							194	187	189					4																	141317309		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317309G>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.935C>T	4.37:g.141317309G>A	ENSP00000326699:p.Ala312Val					CLGN_ENST00000537281.1_Missense_Mutation_p.A312V|CLGN_ENST00000414773.1_Missense_Mutation_p.A312V	p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			9	1375	-	all_hematologic(180;0.162)		312					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.935C>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106850	0.56291	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50277	0.75;0.75;0.75	5.83	3.32	0.38043	Calreticulin/calnexin, P (2);	0.379589	0.31461	N	0.007609	T	0.30103	0.0754	N	0.17345	0.48	0.28319	N	0.922337	B	0.02656	0.0	B	0.10450	0.005	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.4273	9.1602	0.37019	0.1194:0.0:0.1338:0.7468	.	312	O14967	CLGN_HUMAN	V	312;312;312;229	ENSP00000326699:A312V;ENSP00000392782:A312V;ENSP00000439381:A312V	ENSP00000326699:A312V	A	-	2	0	CLGN	141536759	0.998000	0.40836	0.997000	0.53966	0.939000	0.58152	4.223000	0.58587	1.045000	0.40225	-0.422000	0.05995	GCT		0.348	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		195	754	0	0	0	1	0	195	754					A	141317309	G	A	141317309	3	1	79	1	0	0	0	0	1	0	0	0	3533	971	34	2	925	2	CLGN	4	141317309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	315	141317309	49836967	5688	16005											
ELMOD2	255520	broad.mit.edu	37	chr4	141461345	141461345	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaatcttctaatgcccacGaagaagttaaacgctagaat	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(421-423)acG>acA		ELMO/CED-12 domain containing 2							92	89	90					4																	141461345		2203	4300	6503	SO:0001819	synonymous_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141461345G>A	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	4.37:g.141461345G>A							p.T141T	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			6	555	+	all_hematologic(180;0.162)		141			ELMO.		B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.423G>A	CCDS3752.1																																																																																				0.368	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		15	303	0	0	0	1	0	15	303					A	141461345	G	A	141461345	2	1	79	1	0	0	0	0	0	0	0	1	5087	1045	37	1		1	ELMOD2	4	141461345	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144036	141461345	49692931	5689	16006											
ELMOD2	255520	broad.mit.edu	37	chr4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtttctgacataggtattCttatgcaatagttggaatca	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	203	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(607-609)tCt>tTt		ELMO/CED-12 domain containing 2							124	129	127					4																	141464612		2203	4297	6500	SO:0001583	missense	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141464612C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.608C>T	4.37:g.141464612C>T	ENSP00000326342:p.Ser203Phe						p.S203F	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			8	740	+	all_hematologic(180;0.162)		203			ELMO.		B2R712|D3DNZ0	Missense_Mutation	SNP	ENST00000323570.3	37	c.608C>T	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855224	0.71719	.	.	ENSG00000179387	ENST00000323570	T	0.30981	1.51	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.49607	T	0.09	-1.3426	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q8IZ81	ELMD2_HUMAN	F	203	ENSP00000326342:S203F	ENSP00000326342:S203F	S	+	2	0	ELMOD2	141684062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.937000	0.99478	0.650000	0.86243	TCT		0.328	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		84	448	0	0	0	1	0	84	448					T	141464612	C	T	141464612	3	4	79	1	0	0	0	0	1	0	0	0	5087	913	32	2	634	2	ELMOD2	4	141464612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3267	141464612	49689664	5690	16007											
UCP1	7350	broad.mit.edu	37	chr4	141483492	141483492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgttgcgcaaaatccagCgataagagccgacaccaagt	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141483492C>T	ENST00000262999.3	-	5	739	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	222					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CAAAATCCAGCGATAAGAGCC	0.463																																						ENST00000262999.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16						c.(664-666)Gct>Act		uncoupling protein 1 (mitochondrial, proton carrier)							96	88	90					4																	141483492		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141483492C>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.664G>A	4.37:g.141483492C>T	ENSP00000262999:p.Ala222Thr						p.A222T	NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN			5	739	-	all_hematologic(180;0.162)		222					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.664G>A	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665467	0.88251	.	.	ENSG00000109424	ENST00000262999	D	0.87103	-2.21	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.94187	0.7437	10	0.62326	D	0.03	.	17.6254	0.88092	0.0:1.0:0.0:0.0	.	221;222	Q4KMT7;P25874	.;UCP1_HUMAN	T	222	ENSP00000262999:A222T	ENSP00000262999:A222T	A	-	1	0	UCP1	141702942	1.000000	0.71417	0.848000	0.33437	0.415000	0.31203	7.333000	0.79214	2.773000	0.95371	0.650000	0.86243	GCT		0.463	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			10	292	0	0	0	1	0	10	292					T	141483492	C	T	141483492	3	4	79	1	0	0	0	0	1	0	0	0	16984	768	27	1	265	1	UCP1	4	141483492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18880	141483492	49670784	5691	16008											
TBC1D9	23158	broad.mit.edu	37	chr4	141543376	141543376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatggccgagatttcataGtcactggccgaggtgagggg	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1258							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGATTTCATAGTCACTGGCCG	0.552																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3772-3774)gaC>gaT		TBC1 domain family, member 9 (with GRAM domain)							67	67	67					4																	141543376		1881	4119	6000	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543376G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3774C>T	4.37:g.141543376G>A							p.D1258D	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3848	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1258					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3774C>T	CCDS47136.1																																																																																				0.552	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		70	374	0	0	0	1	0	70	374					A	141543376	G	A	141543376	2	1	79	1	0	0	0	0	0	0	0	1	15679	1020	36	2		2	TBC1D9	4	141543376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59884	141543376	49610900	5692	16009											
TBC1D9	23158	broad.mit.edu	37	chr4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggccaggctggccggcaGgggctcaacagactccacca	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1113							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGGCAGGGGCTCAACA	0.672																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3337-3339)Ctg>Atg		TBC1 domain family, member 9 (with GRAM domain)							32	39	36					4																	141543813		2004	4155	6159	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543813G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3337C>A	4.37:g.141543813G>T	ENSP00000411197:p.Leu1113Met						p.L1113M	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3411	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1113					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3337C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040286	0.08148	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	4.86	4.01	0.46588	.	.	.	.	.	T	0.36799	0.0980	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.31308	-0.9948	9	0.38643	T	0.18	.	4.3356	0.11085	0.2044:0.2051:0.5906:0.0	.	1113	Q6ZT07	TBCD9_HUMAN	M	1113	ENSP00000411197:L1113M	ENSP00000411197:L1113M	L	-	1	2	TBC1D9	141763263	0.965000	0.33210	0.285000	0.24819	0.513000	0.34164	3.633000	0.54295	1.018000	0.39521	0.655000	0.94253	CTG		0.672	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		53	272	1	0	1.51926e-22	1	1.72e-22	53	272					T	141543813	G	T	141543813	3	4	79	1	0	0	0	0	1	0	0	0	15679	991	35	3	467	3	TBC1D9	4	141543813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	437	141543813	49610463	5693	16010											
TBC1D9	23158	broad.mit.edu	37	chr4	141543992	141543992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctggtcactgctgccGtggcgtggtacagctcctgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543992G>A	ENST00000442267.2	-	21	3232	c.3158C>T	c.(3157-3159)aCg>aTg	p.T1053M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1053							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGCTGCCGTGGCGTGGTA	0.567																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3157-3159)aCg>aTg		TBC1 domain family, member 9 (with GRAM domain)							29	30	30					4																	141543992		2056	4228	6284	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543992G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3158C>T	4.37:g.141543992G>A	ENSP00000411197:p.Thr1053Met						p.T1053M	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3232	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1053					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3158C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721948	0.68959	.	.	ENSG00000109436	ENST00000442267	T	0.66460	-0.21	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.48738	0.588	T	0.74478	-0.3652	10	0.72032	D	0.01	.	18.9312	0.92566	0.0:0.0:1.0:0.0	.	1053	Q6ZT07	TBCD9_HUMAN	M	1053	ENSP00000411197:T1053M	ENSP00000411197:T1053M	T	-	2	0	TBC1D9	141763442	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	8.032000	0.88838	2.461000	0.83175	0.655000	0.94253	ACG		0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		4	87	0	0	0	1	0	4	87					A	141543992	G	A	141543992	3	1	79	1	0	0	0	0	1	0	0	0	15679	1145	40	1	646	1	TBC1D9	4	141543992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	141543992	49610284	5694	16011											
TBC1D9	23158	broad.mit.edu	37	chr4	141578910	141578910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgcatgcagtcgtacaGctgtgggacgtagtctcgtg	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	660	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAGTCGTACAGCTGTGGGACG	0.517																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1978-1980)Ctg>Ttg		TBC1 domain family, member 9 (with GRAM domain)							197	195	196					4																	141578910		2124	4239	6363	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578910G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1978C>T	4.37:g.141578910G>A							p.L660L	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			12	2052	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	660			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.1978C>T	CCDS47136.1																																																																																				0.517	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		144	613	0	0	0	1	0	144	613					A	141578910	G	A	141578910	2	1	79	1	0	0	0	0	0	0	0	1	15679	962	34	2		2	TBC1D9	4	141578910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34918	141578910	49575366	5695	16012											
TBC1D9	23158	broad.mit.edu	37	chr4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcaacaccagctcccGcgttttctctgtgcggtaca	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	509							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCAGCTCCCGCGTTTTCTCT	0.562																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1525-1527)Cgg>Tgg		TBC1 domain family, member 9 (with GRAM domain)							47	55	52					4																	141590134		2164	4280	6444	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141590134G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1525C>T	4.37:g.141590134G>A	ENSP00000411197:p.Arg509Trp						p.R509W	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			9	1599	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	509					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1525C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325543	0.81580	.	.	ENSG00000109436	ENST00000442267	T	0.05258	3.47	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.106323	0.64402	D	0.000006	T	0.23965	0.0580	M	0.79475	2.455	0.51767	D	0.999934	D	0.76494	0.999	D	0.63957	0.92	T	0.00073	-1.2127	10	0.72032	D	0.01	-8.8656	14.7148	0.69259	0.0:0.0:0.8214:0.1786	.	509	Q6ZT07	TBCD9_HUMAN	W	509	ENSP00000411197:R509W	ENSP00000411197:R509W	R	-	1	2	TBC1D9	141809584	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	3.861000	0.56002	2.793000	0.96121	0.655000	0.94253	CGG		0.562	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		18	177	0	0	0	1	0	18	177					A	141590134	G	A	141590134	3	1	79	1	0	0	0	0	1	0	0	0	15679	1086	38	1	2327	1	TBC1D9	4	141590134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11224	141590134	49564142	5696	16013											
TBC1D9	23158	broad.mit.edu	37	chr4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgagatcctctgcactaGaaagtctctatctttcaagt	6	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1171-1173)Cta>Ata		TBC1 domain family, member 9 (with GRAM domain)							151	151	151					4																	141591969		1905	4113	6018	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141591969G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1171C>A	4.37:g.141591969G>T	ENSP00000411197:p.Leu391Ile						p.L391I	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			7	1245	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	391					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1171C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414502	0.83449	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.79475	2.455	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.02294	-1.1181	10	0.49607	T	0.09	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	I	391	ENSP00000411197:L391I	ENSP00000411197:L391I	L	-	1	2	TBC1D9	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA		0.453	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		90	443	1	0	8.47766e-36	1	1.01331e-35	90	443					T	141591969	G	T	141591969	3	4	79	1	0	0	0	0	1	0	0	0	15679	933	33	3	2689	3	TBC1D9	4	141591969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	141591969	49562307	5697	16014											
INPP4B	8821	broad.mit.edu	37	chr4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtctttggcactttTacaacaggtgaaacgaatac	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	843					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTGGCACTTTTACAACAGGTG	0.418																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2527-2529)Aaa>Gaa		inositol polyphosphate-4-phosphatase, type II, 105kDa							161	140	147					4																	143003299		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003299T>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2527A>G	4.37:g.143003299T>C	ENSP00000425487:p.Lys843Glu					INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			26	2960	-	all_hematologic(180;0.158)		843					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2527A>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	30	5.051655	0.93793	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.47;1.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71017	-0.4714	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	843	O15327	INP4B_HUMAN	E	843;843;843;843;843;658	ENSP00000425487:K843E;ENSP00000262992:K843E;ENSP00000308441:K843E;ENSP00000423954:K843E;ENSP00000422793:K843E;ENSP00000426207:K658E	ENSP00000262992:K843E	K	-	1	0	INPP4B	143222749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.232000	0.73038	0.528000	0.53228	AAA		0.418	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		48	276	0	0	0	1	0	48	276					C	143003299	T	C	143003299	3	2	79	1	0	0	0	0	1	0	0	0	7783	1763	61	4	255	4	INPP4B	4	143003299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1411330	143003299	48150977	5698	16015											
USP38	84640	broad.mit.edu	37	chr4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaatgctcgagcccgggCcctccaagctgcatctgctt	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	999					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2995-2997)gCc>gTc		ubiquitin specific peptidase 38							63	67	66					4																	144141476		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144141476C>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2996C>T	4.37:g.144141476C>T	ENSP00000303434:p.Ala999Val						p.A999V	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			10	3502	+	all_hematologic(180;0.158)		999					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2996C>T	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922702	0.92319	.	.	ENSG00000170185	ENST00000307017	T	0.09911	2.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00115	-1.2039	10	0.37606	T	0.19	-10.3075	20.2043	0.98273	0.0:1.0:0.0:0.0	.	999	Q8NB14	UBP38_HUMAN	V	999	ENSP00000303434:A999V	ENSP00000303434:A999V	A	+	2	0	USP38	144360926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.779000	0.95612	0.591000	0.81541	GCC		0.428	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		64	300	0	0	0	1	0	64	300					T	144141476	C	T	144141476	3	4	79	1	0	0	0	0	1	0	0	0	17123	739	26	2	3034	2	USP38	4	144141476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138177	144141476	47012800	5699	16016											
SMARCA5	8467	broad.mit.edu	37	chr4	144449155	144449155	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaatagatgaagctcacagGatcaaaaatgaaaaatctaa	7	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGCTCACAGGATCAAAAATG	0.264																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(934-936)agG>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							42	45	44					4																	144449155		2199	4294	6493	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144449155G>A	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.936G>A	4.37:g.144449155G>A							p.R312R	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			7	1398	+	all_hematologic(180;0.158)		312			Helicase ATP-binding.			Silent	SNP	ENST00000283131.3	37	c.936G>A	CCDS3761.1																																																																																				0.264	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			43	182	0	0	0	1	0	43	182					A	144449155	G	A	144449155	2	1	79	1	0	0	0	0	0	0	0	1	14821	1165	41	2		2	SMARCA5	4	144449155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307679	144449155	46705121	5700	16017											
HHIP	64399	broad.mit.edu	37	chr4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcctctgctctgcaaagActattgcaaagaattctttt	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D143G	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	143					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTGCAAAGACTATTGCAAA	0.393																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(427-429)gAc>gGc		hedgehog interacting protein							121	130	127					4																	145573905		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145573905A>G	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.428A>G	4.37:g.145573905A>G	ENSP00000296575:p.Asp143Gly					HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.D143G	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	2	1083	+	all_hematologic(180;0.151)		143					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.428A>G	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839939	0.91117	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	-1.22;-1.22	5.83	5.83	0.93111	Folate receptor-like (1);	0.043571	0.85682	D	0.000000	D	0.86781	0.6015	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.291	D;B	0.63113	0.911;0.091	D	0.87923	0.2705	10	0.62326	D	0.03	-27.2646	16.2127	0.82178	1.0:0.0:0.0:0.0	.	143;143	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	G	143	ENSP00000296575:D143G;ENSP00000408587:D143G	ENSP00000296575:D143G	D	+	2	0	HHIP	145793355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.236000	0.73375	0.533000	0.62120	GAC		0.393	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			84	471	0	0	0	1	0	84	471					G	145573905	A	G	145573905	3	3	79	1	0	0	0	0	1	0	0	0	7122	275	10	4	434	4	HHIP	4	145573905	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1124750	145573905	45580371	5701	16018											
HHIP	64399	broad.mit.edu	37	chr4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcagccagaattctacaGataataaaggggaaagatta	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	467					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCTACAGATAATAAAGG	0.338																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1399-1401)caG>caT		hedgehog interacting protein							124	124	124					4																	145633201		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145633201G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1401G>T	4.37:g.145633201G>T	ENSP00000296575:p.Gln467His						p.Q467H	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	8	2056	+	all_hematologic(180;0.151)		467					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1401G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460855	0.26248	.	.	ENSG00000164161	ENST00000296575	T	0.05786	3.39	5.74	3.08	0.35506	Six-bladed beta-propeller, TolB-like (1);	0.051730	0.85682	D	0.000000	T	0.05960	0.0155	L	0.51422	1.61	0.80722	D	1	P	0.38788	0.647	B	0.34452	0.183	T	0.41142	-0.9525	10	0.36615	T	0.2	-10.7005	7.1988	0.25868	0.1943:0.0:0.6819:0.1238	.	467	Q96QV1	HHIP_HUMAN	H	467	ENSP00000296575:Q467H	ENSP00000296575:Q467H	Q	+	3	2	HHIP	145852651	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.660000	0.46749	0.769000	0.33313	0.655000	0.94253	CAG		0.338	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			101	460	1	0	3.95083e-50	1	4.8935e-50	101	460					T	145633201	G	T	145633201	3	4	79	1	0	0	0	0	1	0	0	0	7122	933	33	3	1431	3	HHIP	4	145633201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59296	145633201	45521075	5702	16019											
HHIP	64399	broad.mit.edu	37	chr4	145635402	145635402	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagccatcacttttagaattCaagccattcagtaatggtcc	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	483					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTAGAATTCAAGCCATTCA	0.378																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1447-1449)ttC>ttT		hedgehog interacting protein							124	115	118					4																	145635402		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145635402C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1449C>T	4.37:g.145635402C>T							p.F483F	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	9	2104	+	all_hematologic(180;0.151)		483					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.1449C>T	CCDS3762.1																																																																																				0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			32	160	0	0	0	1	0	32	160					T	145635402	C	T	145635402	2	4	79	1	0	0	0	0	0	0	0	1	7122	825	29	2		2	HHIP	4	145635402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2201	145635402	45518874	5703	16020											
HHIP	64399	broad.mit.edu	37	chr4	145658990	145658990	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctctgtaaaaaaggatatCttggtcctcaatgtgaacaa	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145658990C>T	ENST00000296575.3	+	13	2639	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	662	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAAAGGATATCTTGGTCCTCA	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1984-1986)Ctt>Ttt		hedgehog interacting protein							162	138	146					4																	145658990		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145658990C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1984C>T	4.37:g.145658990C>T	ENSP00000296575:p.Leu662Phe						p.L662F	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	13	2639	+	all_hematologic(180;0.151)		662			EGF-like 2.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1984C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111178	0.77210	.	.	ENSG00000164161	ENST00000296575	T	0.66995	-0.24	5.61	5.61	0.85477	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.099589	0.64402	D	0.000020	T	0.43344	0.1243	N	0.02539	-0.55	0.80722	D	1	P	0.46020	0.871	B	0.41723	0.365	T	0.57093	-0.7870	10	0.62326	D	0.03	-14.2584	12.9061	0.58154	0.0:0.9257:0.0:0.0743	.	662	Q96QV1	HHIP_HUMAN	F	662	ENSP00000296575:L662F	ENSP00000296575:L662F	L	+	1	0	HHIP	145878440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.634000	0.89283	0.585000	0.79938	CTT		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			13	385	0	0	0	1	0	13	385					T	145658990	C	T	145658990	3	4	79	1	0	0	0	0	1	0	0	0	7122	913	32	2	2034	2	HHIP	4	145658990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23588	145658990	45495286	5704	16021											
ABCE1	6059	broad.mit.edu	37	chr4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtttgcatacagaaaGctgatatgtaggttacttta	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	235	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(703-705)Gct>Act		ATP-binding cassette, sub-family E (OABP), member 1							135	120	125					4																	146032209		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032209G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.703G>A	4.37:g.146032209G>A	ENSP00000296577:p.Ala235Thr					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	p.A235T	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1218	+	all_hematologic(180;0.151)		235			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.703G>A	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826680	0.90955	.	.	ENSG00000164163	ENST00000296577	D	0.85339	-1.97	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	D	0.85299	0.1072	10	0.54805	T	0.06	-38.6729	19.6512	0.95812	0.0:0.0:1.0:0.0	.	235	P61221	ABCE1_HUMAN	T	235	ENSP00000296577:A235T	ENSP00000296577:A235T	A	+	1	0	ABCE1	146251659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.712000	0.92718	0.591000	0.81541	GCT		0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		49	220	0	0	0	1	0	49	220					A	146032209	G	A	146032209	3	1	79	1	0	0	0	0	1	0	0	0	64	971	34	2	729	2	ABCE1	4	146032209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373219	146032209	45122067	5705	16022											
ABCE1	6059	broad.mit.edu	37	chr4	146044705	146044705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctatctagcggatcgCgtcatcgtttttgatggtgt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	531	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1591-1593)cgC>cgT		ATP-binding cassette, sub-family E (OABP), member 1							69	64	66					4																	146044705		2203	4298	6501	SO:0001819	synonymous_variant	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044705C>T	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1593C>T	4.37:g.146044705C>T						OTUD4_ENST00000455611.2_Intron	p.R531R	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			16	2108	+	all_hematologic(180;0.151)		531			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	ENST00000296577.4	37	c.1593C>T	CCDS34071.1																																																																																				0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		29	133	0	0	0	1	0	29	133					T	146044705	C	T	146044705	2	4	79	1	0	0	0	0	0	0	0	1	64	755	27	1		1	ABCE1	4	146044705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12496	146044705	45109571	5706	16023											
OTUD4	54726	broad.mit.edu	37	chr4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacccctaccagaatagCcccaatcacttttgtacttc	3	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000447906.2	-	21	3357	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.G992D			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1057					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2974-2976)gGc>gAc		OTU domain containing 4							242	236	238					4																	146058757		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146058757C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3170G>A	4.37:g.146058757C>T	ENSP00000395487:p.Gly1057Asp					OTUD4_ENST00000447906.2_Missense_Mutation_p.G1057D|OTUD4_ENST00000455611.2_Intron	p.G992D	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3112	-	all_hematologic(180;0.151)		1056					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2975G>A		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840269	0.32513	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.36;1.35	6.17	5.29	0.74685	.	0.324146	0.30859	N	0.008727	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.40940	0.344;0.186	T	0.01675	-1.1298	10	0.51188	T	0.08	-5.5415	10.4324	0.44415	0.0:0.7961:0.1351:0.0688	.	1057;1056	G3V0I6;Q01804	.;OTUD4_HUMAN	D	992;1057	ENSP00000409279:G992D;ENSP00000395487:G1057D	ENSP00000395487:G1057D	G	-	2	0	OTUD4	146278207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.756000	0.47549	2.941000	0.99782	0.655000	0.94253	GGC		0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		224	971	0	0	0	1	0	224	971					T	146058757	C	T	146058757	3	4	79	1	0	0	0	0	1	0	0	0	11356	739	26	2	178	2	OTUD4	4	146058757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14052	146058757	45095519	5707	16024											
OTUD4	54726	broad.mit.edu	37	chr4	146064545	146064545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagggcactctaacTtctttgactttgatggtgat	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146064545T>G	ENST00000447906.2	-	17	1842	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.K487T			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	552					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACTCTAACTTCTTTGACTT	0.373																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1459-1461)aAg>aCg		OTU domain containing 4							109	103	105					4																	146064545		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146064545T>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1655A>C	4.37:g.146064545T>G	ENSP00000395487:p.Lys552Thr					OTUD4_ENST00000447906.2_Missense_Mutation_p.K552T|OTUD4_ENST00000455611.2_5'UTR	p.K487T	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			17	1597	-	all_hematologic(180;0.151)		551					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1460A>C		.	.	.	.	.	.	.	.	.	.	T	15.28	2.786624	0.49997	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.33438	1.42;1.41	5.93	5.93	0.95920	.	0.171326	0.42420	D	0.000705	T	0.25606	0.0623	L	0.32530	0.975	0.80722	D	1	B;B	0.14805	0.011;0.007	B;B	0.19391	0.025;0.011	T	0.03818	-1.1001	10	0.37606	T	0.19	-24.0895	12.7861	0.57507	0.0:0.0:0.0:1.0	.	552;551	G3V0I6;Q01804	.;OTUD4_HUMAN	T	487;552	ENSP00000409279:K487T;ENSP00000395487:K552T	ENSP00000395487:K552T	K	-	2	0	OTUD4	146283995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.639000	0.37176	2.281000	0.76405	0.533000	0.62120	AAG		0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	218	0	0	0	1	0	9	218					G	146064545	T	G	146064545	3	3	79	1	0	0	0	0	1	0	0	0	11356	1609	56	4	1709	4	OTUD4	4	146064545	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5788	146064545	45089731	5708	16025											
C4orf51	646603	broad.mit.edu	37	chr4	146601514	146601515	+	Frame_Shift_Ins	INS	-	-	A													catacacaggcagttaccggINSaaaaaacaactggacaagtc					rs527501209	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601514_146601515insA	ENST00000438731.1	+	1	159_160	c.159_160insA	c.(160-162)aaafs	p.K54fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	54										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GCAGTTACCGGAAAAAACAACT	0.446													AAAAAA|AAAAAA|AAAAAAA|insertion	11	0.00219649	0.0076	0.0014	5008	,	,		22027	0.0		0.0	False		,,,				2504	0.0					ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(157-162)cgaaaafs		chromosome 4 open reading frame 51				26,3704		3,20,1842						4.3	0.6			108	6,7944		0,6,3969	no	frameshift	C4orf51	NM_001080531.1		3,26,5811	A1A1,A1R,RR		0.0755,0.6971,0.274				32,11648				SO:0001589	frameshift_variant	646603							g.chr4:146601514_146601515insA		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.165dupA	4.37:g.146601520_146601520dupA	ENSP00000391404:p.Lys54fs						p.RK53fs	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	159_160	+			53						Frame_Shift_Ins	INS	ENST00000438731.1	37	c.159_160insA	CCDS47140.1																																																																																				0.446	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		7	368						7	368	---	---	---	---	A	146601515	-	A	146601514	7	5	79	1	0	1	1	0	0	0	0	0	2284	1161	41	0	161	0	C4orf51	4	146601514	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	536969	146601514	44552762	5709	16026											
C4orf51	646603	broad.mit.edu	37	chr4	146601532	146601532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaaaaacaactggacaaGtccatgtgcagccaattttc	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(175-177)aaG>aaA		chromosome 4 open reading frame 51							103	101	101					4																	146601532		1954	4153	6107	SO:0001819	synonymous_variant	646603							g.chr4:146601532G>A		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.177G>A	4.37:g.146601532G>A							p.K59K	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	177	+			59						Silent	SNP	ENST00000438731.1	37	c.177G>A	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259618	0.10239	.	.	ENSG00000237136	ENST00000511965	.	.	.	6.02	-2.97	0.05530	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.6016	0.02675	0.1441:0.2135:0.2632:0.3791	.	.	.	.	N	19	.	.	S	+	2	0	C4orf51	146820982	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.837000	0.04377	-0.094000	0.12374	0.655000	0.94253	AGT		0.428	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		54	253	0	0	0	1	0	54	253					A	146601532	G	A	146601532	2	1	79	1	0	0	0	0	0	0	0	1	2284	1020	36	2		2	C4orf51	4	146601532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	146601532	44552744	5710	16027											
ZNF827	152485	broad.mit.edu	37	chr4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccataggatgcttctgacGgagtctctgaagagtttcca	10	11	2	3	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(118-120)cCg>cTg		zinc finger protein 827		G	LEU/PRO	0,4406		0,0,2203	88	91	90		119	5.7	1	4	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF827	NM_178835.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	40/1078	146824292	2,13004	2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824292G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.119C>T	4.37:g.146824292G>A	ENSP00000421863:p.Pro40Leu					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L	p.P40L			Q17R98	ZN827_HUMAN			2	346	-	all_hematologic(180;0.151)		40					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.119C>T		.	.	.	.	.	.	.	.	.	.	G	18.39	3.612703	0.66672	0.0	2.33E-4	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09163	3.01;3.05	5.69	5.69	0.88448	.	0.048635	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.01146	-1.1437	10	0.72032	D	0.01	-16.9029	19.8182	0.96579	0.0:0.0:1.0:0.0	.	40;40	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	40;40;39	ENSP00000421863:P40L;ENSP00000368761:P40L	ENSP00000281318:P39L	P	-	2	0	ZNF827	147043742	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	5.679000	0.68160	2.700000	0.92200	0.561000	0.74099	CCG		0.532	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		101	413	0	0	0	1	0	101	413					A	146824292	G	A	146824292	3	1	79	1	0	0	0	0	1	0	0	0	18233	1116	39	1	3162	1	ZNF827	4	146824292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222760	146824292	44329984	5711	16028											
POU4F2	5458	broad.mit.edu	37	chr4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgccgcacatggccaccatGaaccccatgcaccaagcagc	9	18	0	1	rs537218174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	225					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)			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)					TGGCCACCATGAACCCCATGC	0.726																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(673-675)atG>atT		POU class 4 homeobox 2							12	14	13					4																	147561405		2193	4289	6482	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.chr4:147561405G>T	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.675G>T	4.37:g.147561405G>T	ENSP00000281321:p.Met225Ile						p.M225I	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	923	+	all_hematologic(180;0.151)		225					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.675G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163240	0.38217	.	.	ENSG00000151615	ENST00000281321	D	0.82984	-1.67	5.52	5.52	0.82312	.	0.689044	0.16201	N	0.224911	T	0.74473	0.3721	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.14578	0.011	T	0.66697	-0.5858	10	0.21014	T	0.42	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	225	Q12837	PO4F2_HUMAN	I	225	ENSP00000281321:M225I	ENSP00000281321:M225I	M	+	3	0	POU4F2	147780855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.609000	0.88269	0.462000	0.41574	ATG		0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		25	85	1	0	9.57634e-11	1	1.01752e-10	25	85					T	147561405	G	T	147561405	3	4	79	1	0	0	0	0	1	0	0	0	12321	1290	45	3	681	3	POU4F2	4	147561405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	737113	147561405	43592871	5712	16029											
POU4F2	5458	broad.mit.edu	37	chr4	147561477	147561477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcacatgggctgcatgagCgacgtggacgccgacccgcg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	249					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)			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)					GCTGCATGAGCGACGTGGACG	0.697																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(745-747)agC>agT		POU class 4 homeobox 2							16	18	17					4																	147561477		2194	4294	6488	SO:0001819	synonymous_variant	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.chr4:147561477C>T	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.747C>T	4.37:g.147561477C>T							p.S249S	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	995	+	all_hematologic(180;0.151)		249					B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.747C>T	CCDS34074.1																																																																																				0.697	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		30	114	0	0	0	1	0	30	114					T	147561477	C	T	147561477	2	4	79	1	0	0	0	0	0	0	0	1	12321	767	27	1		1	POU4F2	4	147561477	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	147561477	43592799	5713	16030											
PRMT10	90826	broad.mit.edu	37	chr4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccattttaaagccttcaTgatatgggatgttgttaagc	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		534	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1600-1602)cAt>cCt		protein arginine methyltransferase 10 (putative)							177	167	171					4																	148575447		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575447T>G																												ENST00000322396.6:c.1601A>C	4.37:g.148575447T>G	ENSP00000314396:p.His534Pro					TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P	p.H534P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1843	-			534					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1601A>C	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122919	0.77436	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.58763	-0.7579	10	0.72032	D	0.01	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	534	Q6P2P2	ANM10_HUMAN	P	534;421	ENSP00000314396:H534P;ENSP00000439508:H421P	ENSP00000314396:H534P	H	-	2	0	PRMT10	148794897	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.374000	0.79633	2.317000	0.78254	0.459000	0.35465	CAT		0.413	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			120	495	0	0	0	1	0	120	495					G	148575447	T	G	148575447	3	3	79	1	0	0	0	0	1	0	0	0	12583	1464	51	4	952	4	PRMT10	4	148575447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1013970	148575447	42578829	5714	16031											
ARHGAP10	79658	broad.mit.edu	37	chr4	148786101	148786101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaagtttgagtttgtGgaacctgtgagtattgccaa	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTGTGGAACCTGTGA	0.373																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(589-591)gtG>gtA		Rho GTPase activating protein 10							110	112	112					4																	148786101		2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148786101G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.591G>A	4.37:g.148786101G>A							p.V197V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	6	830	+	all_hematologic(180;0.151)	Renal(17;0.0166)	197			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.591G>A	CCDS34075.1																																																																																				0.373	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		52	196	0	0	0	1	0	52	196					A	148786101	G	A	148786101	2	1	79	1	0	0	0	0	0	0	0	1	862	1335	47	2		2	ARHGAP10	4	148786101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210654	148786101	42368175	5715	16032											
LRBA	987	broad.mit.edu	37	chr4	151186882	151186882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcaccatcagtagcGggtttggtattcatgatgcc	11	10	3	1	rs145709687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151186882G>A	ENST00000357115.3	-	58	8827	c.8584C>T	c.(8584-8586)Cgc>Tgc	p.R2862C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2850C|LRBA_ENST00000535741.1_Missense_Mutation_p.R2851C|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2862						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCAGTAGCGGGTTTGGTAT	0.448																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8551-8553)Cgc>Tgc		LPS-responsive vesicle trafficking, beach and anchor containing		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	127	118	121		8584,8584	5	1	4	dbSNP_134	121	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	180,180	0,16,6487	AA,AG,GG		0.1512,0.0681,0.123	probably-damaging,probably-damaging	2862/2864,2862/2864	151186882	16,12990	2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151186882G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8584C>T	4.37:g.151186882G>A	ENSP00000349629:p.Arg2862Cys					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.R2850C|LRBA_ENST00000357115.3_Missense_Mutation_p.R2862C	p.R2851C			P50851	LRBA_HUMAN			57	9024	-	all_hematologic(180;0.151)		2862					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.8551C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101756	0.76983	6.81E-4	0.001512	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	T;T;T	0.59224	0.28;0.43;0.28	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.977;0.973	T	0.77115	-0.2707	10	0.87932	D	0	.	12.301	0.54874	0.0:0.0:0.6759:0.3241	.	2862;2851;2850;757	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	C	2851;2850;2862	ENSP00000446299:R2851C;ENSP00000421552:R2850C;ENSP00000349629:R2862C	ENSP00000349629:R2862C	R	-	1	0	LRBA	151406332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.405000	0.44548	2.782000	0.95742	0.655000	0.94253	CGC		0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			21	200	0	0	0	1	0	21	200					A	151186882	G	A	151186882	3	1	79	1	0	0	0	0	1	0	0	0	8969	1116	39	1	11	1	LRBA	4	151186882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2400781	151186882	39967394	5716	16033											
MAB21L2	10586	broad.mit.edu	37	chr4	151504454	151504454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaacttcgtggacgaCggctcgctgcccggctgcgc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	91					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(271-273)gaC>gaT		mab-21-like 2 (C. elegans)							81	75	77					4																	151504454		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504454C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.273C>T	4.37:g.151504454C>T						LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	p.D91D	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1378	+	all_hematologic(180;0.151)		91					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.273C>T	CCDS3774.1																																																																																				0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		76	377	0	0	0	1	0	76	377					T	151504454	C	T	151504454	2	4	79	1	0	0	0	0	0	0	0	1	9181	535	19	1		1	MAB21L2	4	151504454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317572	151504454	39649822	5717	16034											
MAB21L2	10586	broad.mit.edu	37	chr4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttccagacgctggtggCccaggcggtggacaagtgca	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	137					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(409-411)gCc>gTc		mab-21-like 2 (C. elegans)							100	99	100					4																	151504591		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504591C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.410C>T	4.37:g.151504591C>T	ENSP00000324701:p.Ala137Val					LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	p.A137V	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1515	+	all_hematologic(180;0.151)		137					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.410C>T	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657904	0.88154	.	.	ENSG00000181541	ENST00000317605	T	0.08634	3.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01393	-1.1366	10	0.27082	T	0.32	-11.1366	19.4696	0.94958	0.0:1.0:0.0:0.0	.	137	Q9Y586	MB212_HUMAN	V	137	ENSP00000324701:A137V	ENSP00000324701:A137V	A	+	2	0	MAB21L2	151724041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	GCC		0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		123	461	0	0	0	1	0	123	461					T	151504591	C	T	151504591	3	4	79	1	0	0	0	0	1	0	0	0	9181	739	26	2	412	2	MAB21L2	4	151504591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	151504591	39649685	5718	16035											
LRBA	987	broad.mit.edu	37	chr4	151511917	151511917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacagagtatcatcatcGccttccaggaggatctcgtt	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000357115.3	-	40	6417	c.6174C>T	c.(6172-6174)ggC>ggT	p.G2058G	LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2058						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6139-6141)ggC>ggT		LPS-responsive vesicle trafficking, beach and anchor containing							122	108	113					4																	151511917		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151511917G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6174C>T	4.37:g.151511917G>A						LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000357115.3_Silent_p.G2058G|LRBA_ENST00000507224.1_Silent_p.G2047G	p.G2047G			P50851	LRBA_HUMAN			39	6614	-	all_hematologic(180;0.151)		2058					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.6141C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228041	0.22542	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.85	1.01	0.19927	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	1.6732	0.02816	0.243:0.103:0.4426:0.2113	.	.	.	.	V	700	.	.	A	-	2	0	LRBA	151731367	0.966000	0.33281	0.999000	0.59377	0.988000	0.76386	0.059000	0.14322	0.081000	0.16988	0.557000	0.71058	GCG		0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			69	267	0	0	0	1	0	69	267					A	151511917	G	A	151511917	2	1	79	1	0	0	0	0	0	0	0	1	8969	1074	38	1		1	LRBA	4	151511917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7326	151511917	39642359	5719	16036											
LRBA	987	broad.mit.edu	37	chr4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttccttcattgacaagttCgataaaagcaaggcctgcat	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000357115.3	-	35	5869	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1876						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGACAAGTTCGATAAAAGCA	0.294																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5626-5628)Gaa>Aaa		LPS-responsive vesicle trafficking, beach and anchor containing							47	55	52					4																	151682954		2203	4285	6488	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151682954C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5626G>A	4.37:g.151682954C>T	ENSP00000349629:p.Glu1876Lys					LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000357115.3_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K	p.E1876K			P50851	LRBA_HUMAN			35	6099	-	all_hematologic(180;0.151)		1876					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5626G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632454	0.67015	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63913	0.37;0.52;0.38;-0.07	5.09	5.09	0.68999	.	0.060679	0.64402	D	0.000004	T	0.81269	0.4787	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.452;0.996	T	0.82938	-0.0209	10	0.49607	T	0.09	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	1876;1876	P50851;P50851-2	LRBA_HUMAN;.	K	1876	ENSP00000446299:E1876K;ENSP00000421552:E1876K;ENSP00000349629:E1876K;ENSP00000422180:E1876K	ENSP00000349629:E1876K	E	-	1	0	LRBA	151902404	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	GAA		0.294	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			63	372	0	0	0	1	0	63	372					T	151682954	C	T	151682954	3	4	79	1	0	0	0	0	1	0	0	0	8969	893	31	1	3061	1	LRBA	4	151682954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171037	151682954	39471322	5720	16037											
LRBA	987	broad.mit.edu	37	chr4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatagatcaccaagggCtccaaggcaggctggtggca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000357115.3	-	30	5362	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1707						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACCAAGGGCTCCAAGGCAG	0.453																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5119-5121)Gcc>Acc		LPS-responsive vesicle trafficking, beach and anchor containing							131	116	121					4																	151749384		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749384C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5119G>A	4.37:g.151749384C>T	ENSP00000349629:p.Ala1707Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000357115.3_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T	p.A1707T			P50851	LRBA_HUMAN			30	5592	-	all_hematologic(180;0.151)		1707					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5119G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399829	0.25291	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.72	2.56	0.30785	.	0.684498	0.14058	N	0.344240	T	0.39226	0.1070	L	0.40543	1.245	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.23119	-1.0197	10	0.13470	T	0.59	.	9.7525	0.40483	0.0:0.7331:0.1203:0.1465	.	1707;1707	P50851;P50851-2	LRBA_HUMAN;.	T	1707	ENSP00000446299:A1707T;ENSP00000421552:A1707T;ENSP00000349629:A1707T;ENSP00000422180:A1707T	ENSP00000349629:A1707T	A	-	1	0	LRBA	151968834	0.207000	0.23482	0.992000	0.48379	0.947000	0.59692	0.518000	0.22847	0.743000	0.32719	0.484000	0.47621	GCC		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			75	426	0	0	0	1	0	75	426					T	151749384	C	T	151749384	3	4	79	1	0	0	0	0	1	0	0	0	8969	797	28	2	3588	2	LRBA	4	151749384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66430	151749384	39404892	5721	16038											
LRBA	987	broad.mit.edu	37	chr4	151793872	151793872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taagagcttgtaccctgattCcttcacttttcgatgccaga	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151793872C>A	ENST00000357115.3	-	18	2444	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000535741.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	734						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCTGATTCCTTCACTTTT	0.308																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2200-2202)gGa>gTa		LPS-responsive vesicle trafficking, beach and anchor containing							89	88	89					4																	151793872		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151793872C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2201G>T	4.37:g.151793872C>A	ENSP00000349629:p.Gly734Val					LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000357115.3_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V	p.G734V			P50851	LRBA_HUMAN			18	2674	-	all_hematologic(180;0.151)		734					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2201G>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730606	0.69074	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.070125	0.56097	D	0.000027	T	0.76905	0.4053	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.934	T	0.71530	-0.4565	10	0.30078	T	0.28	.	20.0714	0.97726	0.0:1.0:0.0:0.0	.	734;734	P50851;P50851-2	LRBA_HUMAN;.	V	734	ENSP00000446299:G734V;ENSP00000421552:G734V;ENSP00000349629:G734V;ENSP00000422180:G734V	ENSP00000349629:G734V	G	-	2	0	LRBA	152013322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.761000	0.55242	2.750000	0.94351	0.585000	0.79938	GGA		0.308	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	395	1	0	0.00010058	1	0.000102273	12	395					A	151793872	C	A	151793872	3	1	79	1	0	0	0	0	1	0	0	0	8969	855	30	3	6554	3	LRBA	4	151793872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44488	151793872	39360404	5722	16039											
LRBA	987	broad.mit.edu	37	chr4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccttttccttttgacttTattgatgttacaatcaaaca	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000357115.3	-	7	1080	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000535741.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	279						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTTGACTTTATTGATGTTA	0.343																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(835-837)atA>atG		LPS-responsive vesicle trafficking, beach and anchor containing							71	66	68					4																	151837610		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151837610T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.837A>G	4.37:g.151837610T>C	ENSP00000349629:p.Ile279Met					LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000357115.3_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M	p.I279M			P50851	LRBA_HUMAN			7	1310	-	all_hematologic(180;0.151)		279					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.837A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626892	0.28978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063284	0.64402	D	0.000006	T	0.64249	0.2581	N	0.03608	-0.345	0.39855	D	0.973295	P;D;P	0.53619	0.934;0.961;0.573	P;D;B	0.63283	0.789;0.913;0.392	T	0.63042	-0.6725	10	0.23302	T	0.38	.	8.4306	0.32755	0.1305:0.0:0.1366:0.733	.	279;279;279	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	279	ENSP00000446299:I279M;ENSP00000421552:I279M;ENSP00000349629:I279M;ENSP00000422180:I279M	ENSP00000349629:I279M	I	-	3	3	LRBA	152057060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.715000	0.37971	0.974000	0.38366	0.374000	0.22700	ATA		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			7	155	0	0	0	1	0	7	155					C	151837610	T	C	151837610	3	2	79	1	0	0	0	0	1	0	0	0	8969	1744	61	4	7962	4	LRBA	4	151837610	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43738	151837610	39316666	5723	16040											
SH3D19	152503	broad.mit.edu	37	chr4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgttgagttggaatgGtttttccattcacaggtctg	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409252.2	-	10	1702	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000409598.4_Missense_Mutation_p.T332N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	332	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(994-996)aCc>aAc		SH3 domain containing 19							110	97	101					4																	152069321		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152069321G>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.995C>A	4.37:g.152069321G>T	ENSP00000386848:p.Thr332Asn					SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000409252.2_Missense_Mutation_p.T332N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N	p.T332N			Q5HYK7	SH319_HUMAN			11	2162	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	332			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.995C>A	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368597	0.11352	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69435	-0.4;0.23;-0.4;-0.4;-0.4;0.23;-0.4	5.57	-0.268	0.12934	.	2.146210	0.02286	N	0.069810	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B;P	0.37176	0.246;0.021;0.006;0.586	B;B;B;B	0.30029	0.06;0.004;0.003;0.11	T	0.27706	-1.0066	10	0.14252	T	0.57	3.4621	6.4763	0.22037	0.6693:0.1355:0.1952:0.0	.	332;332;296;110	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	332;332;332;296;296;332;332	ENSP00000387030:T332N;ENSP00000302913:T332N;ENSP00000416708:T332N;ENSP00000404542:T296N;ENSP00000415694:T296N;ENSP00000386848:T332N;ENSP00000423449:T332N	ENSP00000302913:T332N	T	-	2	0	SH3D19	152288771	0.489000	0.26004	0.009000	0.14445	0.060000	0.15804	1.280000	0.33202	-0.275000	0.09219	0.655000	0.94253	ACC		0.438	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		76	322	1	0	1.4051e-37	1	1.68838e-37	76	322					T	152069321	G	T	152069321	3	4	79	1	0	0	0	0	1	0	0	0	14299	1261	44	3	1421	3	SH3D19	4	152069321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231711	152069321	39084955	5724	16041											
SH3D19	152503	broad.mit.edu	37	chr4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggagtaatttctggtttCttgggcagtcctgaggtttc	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409252.2	-	6	806	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000409598.4_Missense_Mutation_p.K33N|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	33					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(97-99)aaG>aaT		SH3 domain containing 19							123	130	128					4																	152096417		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152096417C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.99G>T	4.37:g.152096417C>A	ENSP00000386848:p.Lys33Asn					SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000409252.2_Missense_Mutation_p.K33N|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N	p.K33N			Q5HYK7	SH319_HUMAN			7	1266	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	33					B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.99G>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349846	0.61183	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	6.07	4.36	0.52297	.	1.529900	0.03461	N	0.212118	T	0.18045	0.0433	L	0.54323	1.7	0.31061	N	0.714097	B;P;P	0.41232	0.434;0.57;0.743	B;B;P	0.45232	0.218;0.389;0.474	T	0.17289	-1.0374	10	0.72032	D	0.01	-3.7997	12.0101	0.53282	0.0:0.8089:0.0:0.1911	.	33;33;33	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	N	33	ENSP00000387030:K33N;ENSP00000302913:K33N;ENSP00000416708:K33N;ENSP00000404542:K33N;ENSP00000415694:K33N;ENSP00000386848:K33N;ENSP00000423449:K33N	ENSP00000302913:K33N	K	-	3	2	SH3D19	152315867	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.900000	0.36469	0.655000	0.94253	AAG		0.428	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		142	643	1	0	3.17917e-66	1	4.02221e-66	142	643					A	152096417	C	A	152096417	3	1	79	1	0	0	0	0	1	0	0	0	14299	912	32	3	2333	3	SH3D19	4	152096417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27096	152096417	39057859	5725	16042											
FBXW7	55294	broad.mit.edu	37	chr4	153250829	153250829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtaaacttactttgcCtgtgactgctgaccaaactt	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	ENST00000281708.4	-	8	2460	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	411					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTACTTTGCCTGTGACTGCT	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1231-1233)Ggc>Agc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							103	91	95					4																	153250829		2202	4300	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250829C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1231G>A	4.37:g.153250829C>T	ENSP00000281708:p.Gly411Ser					FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S	p.G411S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2460	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	411					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1231G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005164	0.93287	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.997;0.994;0.994	D	0.84899	0.0841	10	0.62326	D	0.03	-13.4447	20.5568	0.99304	0.0:1.0:0.0:0.0	.	235;411;293;331	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	411;293;331;235	ENSP00000281708:G411S;ENSP00000296555:G293S;ENSP00000263981:G331S;ENSP00000377528:G235S	ENSP00000263981:G331S	G	-	1	0	FBXW7	153470279	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGC		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			23	233	0	0	0	1	0	23	233					T	153250829	C	T	153250829	3	4	79	1	0	0	0	0	1	0	0	0	5794	681	24	2	912	2	FBXW7	4	153250829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1154412	153250829	37903447	5726	16043											
FBXW7	55294	broad.mit.edu	37	chr4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagggagcaatgaaatgaAgtctcgttgaaactggggtt	13	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	280	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGAAATGAAGTCTCGTTGA	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(838-840)Ttc>Ctc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							178	173	175					4																	153258977		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153258977A>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.838T>C	4.37:g.153258977A>G	ENSP00000281708:p.Phe280Leu					FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L	p.F280L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			5	2067	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	280			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.838T>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552008	0.86127	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.094416	0.85682	D	0.000000	T	0.69700	0.3140	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.69131	-0.5226	10	0.40728	T	0.16	-15.5855	15.8279	0.78727	1.0:0.0:0.0:0.0	.	104;280;162;200	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	280;162;200;104	ENSP00000281708:F280L;ENSP00000296555:F162L;ENSP00000263981:F200L;ENSP00000377528:F104L	ENSP00000263981:F200L	F	-	1	0	FBXW7	153478427	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TTC		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			43	227	0	0	0	1	0	43	227					G	153258977	A	G	153258977	3	3	79	1	0	0	0	0	1	0	0	0	5794	72	3	4	1317	4	FBXW7	4	153258977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8148	153258977	37895299	5727	16044											
FHDC1	85462	broad.mit.edu	37	chr4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctccagggttcccaggGcatggaggagacctcccagc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	689									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGTTCCCAGGGCATGGAGGAG	0.622																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2065-2067)gGc>gAc		FH2 domain containing 1							44	46	45					4																	153896509		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896509G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2066G>A	4.37:g.153896509G>A	ENSP00000427567:p.Gly689Asp					FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D	p.G689D			Q9C0D6	FHDC1_HUMAN			12	2254	+	all_hematologic(180;0.093)		689						Missense_Mutation	SNP	ENST00000511601.1	37	c.2066G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757818	0.03019	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28069	1.63;1.63	5.29	-1.51	0.08664	.	2.486670	0.01025	N	0.004050	T	0.14960	0.0361	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.13108	T	0.6	.	2.6246	0.04926	0.1748:0.4201:0.1915:0.2136	.	689	Q9C0D6	FHDC1_HUMAN	D	689	ENSP00000427567:G689D;ENSP00000260008:G689D	ENSP00000260008:G689D	G	+	2	0	FHDC1	154115959	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.184000	0.09698	-0.619000	0.05648	-1.098000	0.02139	GGC		0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		61	289	0	0	0	1	0	61	289					A	153896509	G	A	153896509	3	1	79	1	0	0	0	0	1	0	0	0	5901	1203	42	2	2108	2	FHDC1	4	153896509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637532	153896509	37257767	5728	16045											
FHDC1	85462	broad.mit.edu	37	chr4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgccagaactccgtgCggagggcctccacaggcgcc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	946									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAACTCCGTGCGGAGGGCCTC	0.716																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2836-2838)Cgg>Tgg		FH2 domain containing 1							18	20	19					4																	153897279		2203	4292	6495	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897279C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2836C>T	4.37:g.153897279C>T	ENSP00000427567:p.Arg946Trp					FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W	p.R946W			Q9C0D6	FHDC1_HUMAN			12	3024	+	all_hematologic(180;0.093)		946						Missense_Mutation	SNP	ENST00000511601.1	37	c.2836C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485608	0.44147	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41065	1.01;1.01	5.7	-11.4	0.00090	.	7.299360	0.01545	U	0.019398	T	0.51770	0.1694	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.69363	-0.5165	10	0.62326	D	0.03	.	27.3211	0.99998	0.1909:0.8091:0.0:0.0	.	946	Q9C0D6	FHDC1_HUMAN	W	946	ENSP00000427567:R946W;ENSP00000260008:R946W	ENSP00000260008:R946W	R	+	1	2	FHDC1	154116729	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-2.584000	0.00460	-1.014000	0.02459	CGG		0.716	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		23	168	0	0	0	1	0	23	168					T	153897279	C	T	153897279	3	4	79	1	0	0	0	0	1	0	0	0	5901	759	27	1	2878	1	FHDC1	4	153897279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	770	153897279	37256997	5729	16046											
FHDC1	85462	broad.mit.edu	37	chr4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgaaggccagaggggCtggggaaagggcctccctcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1118									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAGAGGGGCTGGGGAAAGG	0.657																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3352-3354)gCt>gAt		FH2 domain containing 1							13	15	14					4																	153897796		2195	4293	6488	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897796C>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3353C>A	4.37:g.153897796C>A	ENSP00000427567:p.Ala1118Asp					FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D	p.A1118D			Q9C0D6	FHDC1_HUMAN			12	3541	+	all_hematologic(180;0.093)		1118						Missense_Mutation	SNP	ENST00000511601.1	37	c.3353C>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001636	0.35320	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32515	1.45;1.45	5.42	-1.08	0.09936	.	1.740290	0.02777	N	0.120404	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20009	-1.0288	10	0.45353	T	0.12	.	4.6293	0.12493	0.2264:0.3667:0.0:0.4069	.	1118	Q9C0D6	FHDC1_HUMAN	D	1118	ENSP00000427567:A1118D;ENSP00000260008:A1118D	ENSP00000260008:A1118D	A	+	2	0	FHDC1	154117246	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.058000	0.14301	-0.286000	0.09076	-0.181000	0.13052	GCT		0.657	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		24	75	1	0	1.22574e-08	1	1.28258e-08	24	75					A	153897796	C	A	153897796	3	1	79	1	0	0	0	0	1	0	0	0	5901	797	28	3	3395	3	FHDC1	4	153897796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	153897796	37256480	5730	16047											
TRIM2	23321	broad.mit.edu	37	chr4	154216605	154216605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgagcgagaagctgaaCgagctggccgaccaggactt	14	10	0	4	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000437508.2	+	6	1047	c.846C>T	c.(844-846)aaC>aaT	p.N282N	TRIM2_ENST00000338700.5_Silent_p.N309N|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	282					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)			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)		AGAAGCTGAACGAGCTGGCCG	0.582																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(925-927)aaC>aaT		tripartite motif containing 2		C	,	0,4406		0,0,2203	70	62	65		846,927	2.1	1	4	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	282/745,309/772	154216605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154216605C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.846C>T	4.37:g.154216605C>T						TRIM2_ENST00000437508.2_Silent_p.N282N|TRIM2_ENST00000494872.1_3'UTR	p.N309N	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	992	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	282					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.927C>T	CCDS47147.1																																																																																				0.582	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			18	196	0	0	0	1	0	18	196					T	154216605	C	T	154216605	2	4	79	1	0	0	0	0	0	0	0	1	16547	535	19	1		1	TRIM2	4	154216605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318809	154216605	36937671	5731	16048											
TRIM2	23321	broad.mit.edu	37	chr4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcttaaccaccaacgccGttgcctcagagacagtggcc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324					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)			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)		CACCAACGCCGTTGCCTCAGA	0.607																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1051-1053)Gtt>Att		tripartite motif containing 2							58	52	54					4																	154216729		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216729G>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.970G>A	4.37:g.154216729G>A	ENSP00000415812:p.Val324Ile					TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I|TRIM2_ENST00000494872.1_3'UTR	p.V351I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1116	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	324					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1051G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT		0.607	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			57	183	0	0	0	1	0	57	183					A	154216729	G	A	154216729	3	1	79	1	0	0	0	0	1	0	0	0	16547	1145	40	1	1073	1	TRIM2	4	154216729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	154216729	36937547	5732	16049											
TRIM2	23321	broad.mit.edu	37	chr4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgcaaaaccggcaacGcctacctcaccgccgaactg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000437508.2	+	6	1288	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	TRIM2_ENST00000338700.5_Missense_Mutation_p.A390T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	363					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)			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)		AACCGGCAACGCCTACCTCAC	0.617																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1168-1170)Gcc>Acc		tripartite motif containing 2							73	71	71					4																	154216846		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216846G>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.1087G>A	4.37:g.154216846G>A	ENSP00000415812:p.Ala363Thr					TRIM2_ENST00000437508.2_Missense_Mutation_p.A363T|TRIM2_ENST00000494872.1_3'UTR	p.A390T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1233	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	363					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1168G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189461	0.94923	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84589	-1.87;-1.87	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091921	0.85682	D	0.000000	D	0.93458	0.7913	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.525	D	0.92425	0.5949	10	0.33940	T	0.23	-0.104	19.2934	0.94112	0.0:0.0:1.0:0.0	.	390;363	D3DP09;Q9C040	.;TRIM2_HUMAN	T	363;390	ENSP00000415812:A363T;ENSP00000339659:A390T	ENSP00000339659:A390T	A	+	1	0	TRIM2	154436296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.375000	0.97178	2.641000	0.89580	0.561000	0.74099	GCC		0.617	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			39	221	0	0	0	1	0	39	221					A	154216846	G	A	154216846	3	1	79	1	0	0	0	0	1	0	0	0	16547	1087	38	1	1190	1	TRIM2	4	154216846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	154216846	36937430	5733	16050											
TRIM2	23321	broad.mit.edu	37	chr4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggacaacaagaacggcAcctatgagtttttgtacact	8	10	0	2	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000437508.2	+	6	1363	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	TRIM2_ENST00000338700.5_Missense_Mutation_p.T415A|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	388					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)			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)		CAAGAACGGCACCTATGAGTT	0.567																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1243-1245)Acc>Gcc		tripartite motif containing 2							124	120	122					4																	154216921		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216921A>G	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.1162A>G	4.37:g.154216921A>G	ENSP00000415812:p.Thr388Ala					TRIM2_ENST00000437508.2_Missense_Mutation_p.T388A|TRIM2_ENST00000494872.1_3'UTR	p.T415A	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1308	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	388					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1243A>G	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426009	0.83667	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.87887	-2.31;-2.31	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043072	0.85682	D	0.000000	D	0.94860	0.8339	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	D	0.95673	0.8725	10	0.59425	D	0.04	-13.6538	15.7668	0.78131	1.0:0.0:0.0:0.0	.	415;388	D3DP09;Q9C040	.;TRIM2_HUMAN	A	388;415	ENSP00000415812:T388A;ENSP00000339659:T415A	ENSP00000339659:T415A	T	+	1	0	TRIM2	154436371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.867000	0.92314	2.134000	0.65973	0.459000	0.35465	ACC		0.567	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			52	300	0	0	0	1	0	52	300					G	154216921	A	G	154216921	3	3	79	1	0	0	0	0	1	0	0	0	16547	159	6	4	1265	4	TRIM2	4	154216921	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	154216921	36937355	5734	16051											
TRIM2	23321	broad.mit.edu	37	chr4	154217082	154217082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcgcgttaagtccccGgggagcggccacgtcaagca	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000437508.2	+	6	1524	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	TRIM2_ENST00000338700.5_Silent_p.P468P|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441					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)			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)		TTAAGTCCCCGGGGAGCGGCC	0.532																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1402-1404)ccG>ccA		tripartite motif containing 2							54	56	56					4																	154217082		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154217082G>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.1323G>A	4.37:g.154217082G>A						TRIM2_ENST00000437508.2_Silent_p.P441P|TRIM2_ENST00000494872.1_3'UTR	p.P468P	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1469	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	441					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.1404G>A	CCDS47147.1																																																																																				0.532	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			45	242	0	0	0	1	0	45	242					A	154217082	G	A	154217082	2	1	79	1	0	0	0	0	0	0	0	1	16547	1103	39	1		1	TRIM2	4	154217082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	154217082	36937194	5735	16052											
KIAA0922	23240	broad.mit.edu	37	chr4	154523409	154523409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaattaatgggtataActgccaaggttatggattcg	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154523409A>G	ENST00000409663.3	+	22	2421	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	790						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGGGTATAACTGCCAAGGT	0.383																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2368-2370)aAc>aGc		KIAA0922							153	152	153					4																	154523409		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154523409A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2369A>G	4.37:g.154523409A>G	ENSP00000386574:p.Asn790Ser					KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	p.N790S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			22	2421	+	all_hematologic(180;0.093)	Renal(120;0.118)	790					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2369A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	6.899	0.535347	0.13188	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16597	2.6;2.33;2.6;2.33	5.81	4.62	0.57501	.	0.232813	0.50627	N	0.000115	T	0.07007	0.0178	N	0.10837	0.055	0.29994	N	0.81661	P;B;B	0.34412	0.453;0.021;0.004	B;B;B	0.33196	0.159;0.032;0.006	T	0.21965	-1.0230	10	0.07325	T	0.83	-20.898	6.483	0.22073	0.7169:0.0:0.2831:0.0	.	707;791;790	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	S	790;707;791;568	ENSP00000386574:N790S;ENSP00000409663:N707S;ENSP00000386787:N791S;ENSP00000240487:N568S	ENSP00000240487:N568S	N	+	2	0	KIAA0922	154742859	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	2.583000	0.46094	1.014000	0.39417	-0.290000	0.09829	AAC		0.383	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		16	817	0	0	0	1	0	16	817					G	154523409	A	G	154523409	3	3	79	1	0	0	0	0	1	0	0	0	8231	43	2	4	2458	4	KIAA0922	4	154523409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	306327	154523409	36630867	5736	16053											
KIAA0922	23240	broad.mit.edu	37	chr4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctcagtaccaccagccaGacttgccagaaatttccagg	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409663.3	+	25	3437	c.3385G>T	c.(3385-3387)Gac>Tac	p.D1129Y	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1129						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGCCAGACTTGCCAGA	0.428																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3385-3387)Gac>Tac		KIAA0922							63	63	63					4																	154525552		2201	4292	6493	SO:0001583	missense	23240					integral to membrane		g.chr4:154525552G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3385G>T	4.37:g.154525552G>T	ENSP00000386574:p.Asp1129Tyr					KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	p.D1129Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			25	3437	+	all_hematologic(180;0.093)	Renal(120;0.118)	1129					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3385G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463610	0.43736	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21361	2.29;2.01;2.29;2.02	5.98	5.14	0.70334	.	0.492803	0.23396	N	0.048640	T	0.40372	0.1114	L	0.47716	1.5	0.40617	D	0.98172	D;D;D	0.89917	1.0;0.99;0.983	D;D;P	0.75484	0.986;0.913;0.822	T	0.30851	-0.9964	10	0.72032	D	0.01	-16.3091	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1046;1130;1129	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1129;1046;1130;907	ENSP00000386574:D1129Y;ENSP00000409663:D1046Y;ENSP00000386787:D1130Y;ENSP00000240487:D907Y	ENSP00000240487:D907Y	D	+	1	0	KIAA0922	154745002	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.047000	0.64232	1.531000	0.49152	0.655000	0.94253	GAC		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		54	557	1	0	4.96213e-28	1	5.76155e-28	54	557					T	154525552	G	T	154525552	3	4	79	1	0	0	0	0	1	0	0	0	8231	942	33	3	3486	3	KIAA0922	4	154525552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2143	154525552	36628724	5737	16054											
KIAA0922	23240	broad.mit.edu	37	chr4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgattcaggagtcgGccccggttcataataggtac	12	9	2	1	rs548174005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409663.3	+	32	4361	c.4309G>A	c.(4309-4311)Gcc>Acc	p.A1437T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1437						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGAGTCGGCCCCGGTTCA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19311	0.0		0.0	False		,,,				2504	0.0					ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4309-4311)Gcc>Acc		KIAA0922							131	103	113					4																	154553974		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154553974G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4309G>A	4.37:g.154553974G>A	ENSP00000386574:p.Ala1437Thr					KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	p.A1437T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			32	4361	+	all_hematologic(180;0.093)	Renal(120;0.118)	1437					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4309G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716702	0.15306	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.5;2.23;2.5;2.23	5.09	1.23	0.21249	.	0.662406	0.15768	N	0.245617	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35011	0.48;0.035;0.021	B;B;B	0.27715	0.082;0.009;0.004	T	0.32455	-0.9906	10	0.02654	T	1	-0.261	11.6361	0.51204	0.0919:0.4304:0.4776:0.0	.	1354;1438;1437	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	1437;1354;1438;1215	ENSP00000386574:A1437T;ENSP00000409663:A1354T;ENSP00000386787:A1438T;ENSP00000240487:A1215T	ENSP00000240487:A1215T	A	+	1	0	KIAA0922	154773424	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.780000	0.26760	-0.099000	0.12263	0.563000	0.77884	GCC		0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		71	292	0	0	0	1	0	71	292					A	154553974	G	A	154553974	3	1	79	1	0	0	0	0	1	0	0	0	8231	1203	42	2	4438	2	KIAA0922	4	154553974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28422	154553974	36600302	5738	16055											
KIAA0922	23240	broad.mit.edu	37	chr4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcgcgcctatatgaacCtggacatatggactaccaca	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409663.3	+	35	4802	c.4750C>A	c.(4750-4752)Ctg>Atg	p.L1584M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1584						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTATATGAACCTGGACATATG	0.468																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4750-4752)Ctg>Atg		KIAA0922							98	94	95					4																	154557648		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557648C>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4750C>A	4.37:g.154557648C>A	ENSP00000386574:p.Leu1584Met					KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	p.L1584M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			35	4802	+	all_hematologic(180;0.093)	Renal(120;0.118)	1584					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4750C>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766502	0.69878	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37915	1.43;1.17;1.43;1.19	5.93	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.27053	0.805	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-12.7261	9.5794	0.39479	0.0:0.8025:0.0:0.1975	.	1501;1585;1584	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1584;1501;1585;1362	ENSP00000386574:L1584M;ENSP00000409663:L1501M;ENSP00000386787:L1585M;ENSP00000240487:L1362M	ENSP00000240487:L1362M	L	+	1	2	KIAA0922	154777098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.719000	0.47244	1.509000	0.48786	0.655000	0.94253	CTG		0.468	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		16	432	1	0	0.00316338	1	0.00318819	16	432					A	154557648	C	A	154557648	3	1	79	1	0	0	0	0	1	0	0	0	8231	680	24	3	4891	3	KIAA0922	4	154557648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3674	154557648	36596628	5739	16056											
TLR2	7097	broad.mit.edu	37	chr4	154624431	154624431	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttcaagcccctttcTtctttaacattcttaaactt	3	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154624431T>A	ENST00000260010.6	+	1	1780	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	124					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AGCCCCTTTCTTCTTTAACAT	0.363																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(370-372)tcT>tcA		toll-like receptor 2							37	41	40					4																	154624431		2200	4297	6497	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624431T>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.372T>A	4.37:g.154624431T>A							p.S124S	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	1780	+	all_hematologic(180;0.093)	Renal(120;0.117)	124					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.372T>A	CCDS3784.1																																																																																				0.363	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			7	266	0	0	0	1	0	7	266					A	154624431	T	A	154624431	2	1	79	1	0	0	0	0	0	0	0	1	16003	1596	56	5		5	TLR2	4	154624431	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66783	154624431	36529845	5740	16057											
TLR2	7097	broad.mit.edu	37	chr4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcagcctgtgaggatgCctggccctctctacaaactt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	385					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TGTGAGGATGCCTGGCCCTCT	0.348																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1153-1155)gCc>gTc		toll-like receptor 2							37	39	38					4																	154625213		2201	4300	6501	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625213C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1154C>T	4.37:g.154625213C>T	ENSP00000260010:p.Ala385Val						p.A385V	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2562	+	all_hematologic(180;0.093)	Renal(120;0.117)	385					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1154C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515517	0.27123	.	.	ENSG00000137462	ENST00000260010	T	0.21932	1.98	6.06	4.33	0.51752	.	0.194642	0.45361	D	0.000372	T	0.26521	0.0648	M	0.70595	2.14	0.38589	D	0.950384	P	0.36660	0.564	B	0.29176	0.099	T	0.23226	-1.0194	10	0.72032	D	0.01	.	18.8242	0.92109	0.0:0.7436:0.2564:0.0	.	385	O60603	TLR2_HUMAN	V	385	ENSP00000260010:A385V	ENSP00000260010:A385V	A	+	2	0	TLR2	154844663	0.001000	0.12720	0.966000	0.40874	0.974000	0.67602	-0.234000	0.09028	0.873000	0.35799	0.655000	0.94253	GCC		0.348	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			58	196	0	0	0	1	0	58	196					T	154625213	C	T	154625213	3	4	79	1	0	0	0	0	1	0	0	0	16003	739	26	2	1156	2	TLR2	4	154625213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	154625213	36529063	5741	16058											
SFRP2	6423	broad.mit.edu	37	chr4	154702681	154702681	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaccgcttcaccgaggtGatcaccagctccccaccctg	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	270	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|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 gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCACCGAGGTGATCACCAGCT	0.592																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(808-810)atC>atT		secreted frizzled-related protein 2							145	107	120					4																	154702681		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702681G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.810C>T	4.37:g.154702681G>A							p.I270I	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			3	1094	-	all_hematologic(180;0.093)	Renal(120;0.117)	270			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.810C>T	CCDS34082.1																																																																																				0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			69	285	0	0	0	1	0	69	285					A	154702681	G	A	154702681	2	1	79	1	0	0	0	0	0	0	0	1	14212	1280	45	2		2	SFRP2	4	154702681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77468	154702681	36451595	5742	16059											
DCHS2	54798	broad.mit.edu	37	chr4	155156624	155156624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacagggaccacctcGttactgcagtcgtcagtttt	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2605					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACCACCTCGTTACTGCAGT	0.473																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7813-7815)aaC>aaT		dachsous cadherin-related 2							124	125	125					4																	155156624		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156624G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7815C>T	4.37:g.155156624G>A							p.N2605N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7814	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2605					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7815C>T	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		98	477	0	0	0	1	0	98	477					A	155156624	G	A	155156624	2	1	79	1	0	0	0	0	0	0	0	1	4299	1136	40	1		1	DCHS2	4	155156624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453943	155156624	35997652	5743	16060											
DCHS2	54798	broad.mit.edu	37	chr4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccacctcgttactgcagtCgtcagttttctggaaggctt	10	11	2	0	rs373906914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2602					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACTGCAGTCGTCAGTTTTC	0.448																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7804-7806)Gac>Aac		dachsous cadherin-related 2		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	123	125	125		7804	4.8	0	4		125	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2602/2917	155156635	1,13005	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156635C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7804G>A	4.37:g.155156635C>T	ENSP00000349768:p.Asp2602Asn						p.D2602N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7803	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2602					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7804G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	2.701	-0.271019	0.05716	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.6	4.76	0.60689	.	0.640826	0.15264	N	0.271617	T	0.32882	0.0844	L	0.34521	1.04	0.23243	N	0.998056	B	0.26602	0.154	B	0.14023	0.01	T	0.15492	-1.0435	10	0.19147	T	0.46	.	9.2146	0.37339	0.0:0.7928:0.0:0.2072	.	2602	Q6V1P9	PCD23_HUMAN	N	2602	ENSP00000349768:D2602N	ENSP00000349768:D2602N	D	-	1	0	DCHS2	155376085	0.001000	0.12720	0.008000	0.14137	0.043000	0.13939	1.139000	0.31504	1.373000	0.46208	0.467000	0.42956	GAC		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		111	481	0	0	0	1	0	111	481					T	155156635	C	T	155156635	3	4	79	1	0	0	0	0	1	0	0	0	4299	884	31	1	950	1	DCHS2	4	155156635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	155156635	35997641	5744	16061											
DCHS2	54798	broad.mit.edu	37	chr4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagcatgaatatcccctgTcaaagggtcaatgaggaaga	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2376	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATCCCCTGTCAAAGGGTCA	0.418																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7126-7128)Aca>Cca		dachsous cadherin-related 2							97	89	92					4																	155157313		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157313T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7126A>C	4.37:g.155157313T>G	ENSP00000349768:p.Thr2376Pro						p.T2376P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7125	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2376			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7126A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244831	0.59103	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.6	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85767	0.1353	10	0.59425	D	0.04	.	12.3787	0.55295	0.1262:0.0:0.0:0.8737	.	2376	Q6V1P9	PCD23_HUMAN	P	2376	ENSP00000349768:T2376P	ENSP00000349768:T2376P	T	-	1	0	DCHS2	155376763	1.000000	0.71417	0.418000	0.26571	0.755000	0.42902	4.059000	0.57470	1.038000	0.40049	0.460000	0.39030	ACA		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		51	451	0	0	0	1	0	51	451					G	155157313	T	G	155157313	3	3	79	1	0	0	0	0	1	0	0	0	4299	1667	58	4	1628	4	DCHS2	4	155157313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	678	155157313	35996963	5745	16062											
DCHS2	54798	broad.mit.edu	37	chr4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaggaaataggcagaTtttctggaacaatacagctg	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2326	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGGCAGATTTTCTGGAAC	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6976-6978)aAt>aCt		dachsous cadherin-related 2							101	94	97					4																	155157462		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157462T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6977A>C	4.37:g.155157462T>G	ENSP00000349768:p.Asn2326Thr						p.N2326T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6976	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2326			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6977A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612391	0.46631	.	.	ENSG00000197410	ENST00000357232	T	0.25414	1.8	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56688	0.2002	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63778	-0.6560	10	0.72032	D	0.01	.	15.9379	0.79729	0.0:0.0:0.0:1.0	.	2326	Q6V1P9	PCD23_HUMAN	T	2326	ENSP00000349768:N2326T	ENSP00000349768:N2326T	N	-	2	0	DCHS2	155376912	1.000000	0.71417	0.921000	0.36526	0.010000	0.07245	6.287000	0.72671	2.151000	0.67156	0.523000	0.50628	AAT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		97	439	0	0	0	1	0	97	439					G	155157462	T	G	155157462	3	3	79	1	0	0	0	0	1	0	0	0	4299	1493	52	4	1777	4	DCHS2	4	155157462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	149	155157462	35996814	5746	16063											
DCHS2	54798	broad.mit.edu	37	chr4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctcatcagtcagaaaAtactcagtttgcccattcag	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1515	Cadherin 13. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTCAGAAAATACTCAGTTT	0.478																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4543-4545)taT>taG		dachsous cadherin-related 2							131	127	128					4																	155219556		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219556A>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4545T>G	4.37:g.155219556A>C	ENSP00000349768:p.Tyr1515*						p.Y1515*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4544	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1515			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.4545T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	43	9.909025	0.99293	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.76	0.333	0.15943	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3991	0.32574	0.5243:0.0:0.4757:0.0	.	.	.	.	X	1515	.	ENSP00000349768:Y1515X	Y	-	3	2	DCHS2	155439006	1.000000	0.71417	0.490000	0.27465	0.763000	0.43281	1.913000	0.39956	0.191000	0.20236	0.528000	0.53228	TAT		0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		121	469	0	0	0	1	0	121	469					C	155219556	A	C	155219556	4	2	79	1	0	0	0	0	0	1	0	0	4299	108	4	4	4237	4	DCHS2	4	155219556	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62094	155219556	35934720	5747	16064											
DCHS2	54798	broad.mit.edu	37	chr4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctactgttcaaaaaactgCcgtcatcatctttggcattg	6	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1084	Cadherin 9. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAAACTGCCGTCATCATC	0.448																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3250-3252)gGc>gTc		dachsous cadherin-related 2							248	268	261					4																	155241935		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241935C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3251G>T	4.37:g.155241935C>A	ENSP00000349768:p.Gly1084Val						p.G1084V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3250	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1084			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3251G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722369	0.68959	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81168	0.4766	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.52906	T	0.07	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1084	Q6V1P9	PCD23_HUMAN	V	1084	ENSP00000349768:G1084V	ENSP00000349768:G1084V	G	-	2	0	DCHS2	155461385	1.000000	0.71417	0.935000	0.37517	0.467000	0.32768	7.487000	0.81328	2.683000	0.91414	0.563000	0.77884	GGC		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		148	579	1	0	1.20797e-82	1	1.54616e-82	148	579					A	155241935	C	A	155241935	3	1	79	1	0	0	0	0	1	0	0	0	4299	739	26	3	5547	3	DCHS2	4	155241935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22379	155241935	35912341	5748	16065											
DCHS2	54798	broad.mit.edu	37	chr4	155253943	155253943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaaataaatccagccCgtgtaagggcggattccaaa	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.T1139T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	640	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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATCCAGCCCGTGTAAGGGC	0.522																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1918-1920)acG>acA		dachsous cadherin-related 2							49	53	52					4																	155253943		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253943C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1920G>A	4.37:g.155253943C>T						DCHS2_ENST00000339452.1_Silent_p.T1139T	p.T640T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1919	-	all_hematologic(180;0.208)	Renal(120;0.0854)	640			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1920G>A	CCDS3785.1																																																																																				0.522	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		69	253	0	0	0	1	0	69	253					T	155253943	C	T	155253943	2	4	79	1	0	0	0	0	0	0	0	1	4299	639	23	1		1	DCHS2	4	155253943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12008	155253943	35900333	5749	16066											
DCHS2	54798	broad.mit.edu	37	chr4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctgcctgaggatgcaCgccttggtcctcggccctga	14	14	0	2	rs200145926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	561	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGGATGCACGCCTTGGTCC	0.612																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1681-1683)Gtg>Atg		dachsous cadherin-related 2							61	62	62					4																	155254182		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254182C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1681G>A	4.37:g.155254182C>T	ENSP00000349768:p.Val561Met					DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	p.V561M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1680	-	all_hematologic(180;0.208)	Renal(120;0.0854)	561			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1681G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225699	0.39300	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52057	0.68;0.68	5.73	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	1.191250	0.06159	N	0.675671	T	0.33933	0.0880	L	0.41356	1.27	0.09310	N	0.999999	P;P	0.36110	0.537;0.476	B;B	0.31686	0.125;0.134	T	0.23368	-1.0190	10	0.44086	T	0.13	.	7.315	0.26495	0.0:0.1804:0.3299:0.4897	.	1060;561	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	561;1060;1060	ENSP00000349768:V561M;ENSP00000345062:V1060M	ENSP00000345062:V1060M	V	-	1	0	DCHS2	155473632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.289000	0.08365	-0.723000	0.04915	-0.136000	0.14681	GTG		0.612	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		77	283	0	0	0	1	0	77	283					T	155254182	C	T	155254182	3	4	79	1	0	0	0	0	1	0	0	0	4299	536	19	1	7233	1	DCHS2	4	155254182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	155254182	35900094	5750	16067											
DCHS2	54798	broad.mit.edu	37	chr4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgtcttccgcacgtgCgaggtacaaggctgtgccag	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	502	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCGCACGTGCGAGGTACAAG	0.597																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1504-1506)Gca>Aca		dachsous cadherin-related 2							68	64	66					4																	155254359		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254359C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1504G>A	4.37:g.155254359C>T	ENSP00000349768:p.Ala502Thr					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	p.A502T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1503	-	all_hematologic(180;0.208)	Renal(120;0.0854)	502			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1504G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048405	0.75846	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51817	0.69;0.69	5.6	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.67002	0.2847	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66666	-0.5866	10	0.33141	T	0.24	.	14.2287	0.65877	0.0:0.9285:0.0:0.0715	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	502;1001;1001	ENSP00000349768:A502T;ENSP00000345062:A1001T	ENSP00000345062:A1001T	A	-	1	0	DCHS2	155473809	1.000000	0.71417	0.020000	0.16555	0.653000	0.38743	6.018000	0.70811	1.366000	0.46076	0.563000	0.77884	GCA		0.597	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		25	299	0	0	0	1	0	25	299					T	155254359	C	T	155254359	3	4	79	1	0	0	0	0	1	0	0	0	4299	768	27	1	7410	1	DCHS2	4	155254359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	155254359	35899917	5751	16068											
DCHS2	54798	broad.mit.edu	37	chr4	155278477	155278477	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctctggactatagagtcCtaattagggaaaaggagcca	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	ENST00000357232.4	-	6	694		c.e6-1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctatagagtcctaattaggga	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.e6-1		dachsous cadherin-related 2							61	65	63					4																	155278477		2203	4300	6503	SO:0001630	splice_region_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278477C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.695-1G>T	4.37:g.155278477C>A						DCHS2_ENST00000339452.1_Intron		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	694	-	all_hematologic(180;0.208)	Renal(120;0.0854)						B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Splice_Site	SNP	ENST00000357232.4	37		CCDS3785.1																																																																																				0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	Intron	73	311	1	0	2.36135e-34	1	2.80899e-34	73	311					A	155278477	C	A	155278477	5	1	79	1	0	0	0	0	0	0	1	0	4299	695	24	3	8232	3	DCHS2	4	155278477	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24118	155278477	35875799	5752	16069											
DCHS2	54798	broad.mit.edu	37	chr4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaataaagccatagagtcCtgaatctgcatcagaggctg	9	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATAGAGTCCTGAATCTGCA	0.433																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(259-261)Gga>Aga		dachsous cadherin-related 2							59	60	59					4																	155298572		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298572C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.259G>A	4.37:g.155298572C>T	ENSP00000349768:p.Gly87Arg					DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	p.G87R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	258	-	all_hematologic(180;0.208)	Renal(120;0.0854)	87			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.259G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649025	0.87958	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	0.47;-0.2	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.87010	0.6071	H	0.96889	3.9	0.80722	D	1	P;D	0.89917	0.889;1.0	P;D	0.85130	0.716;0.997	D	0.90962	0.4813	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	693;87	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	87;693;693	ENSP00000349768:G87R;ENSP00000345062:G693R	ENSP00000345062:G693R	G	-	1	0	DCHS2	155518022	0.981000	0.34729	0.921000	0.36526	0.897000	0.52465	5.216000	0.65246	2.664000	0.90586	0.561000	0.74099	GGA		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		43	149	0	0	0	1	0	43	149					T	155298572	C	T	155298572	3	4	79	1	0	0	0	0	1	0	0	0	4299	690	24	2	8679	2	DCHS2	4	155298572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20095	155298572	35855704	5753	16070											
PLRG1	5356	broad.mit.edu	37	chr4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagtttccacggtgggTgccactggggttttggcatt	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R|PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	191					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACGGTGGGTGCCACTGGGG	0.423																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(571-573)cAc>cGc		pleiotropic regulator 1							132	131	131					4																	155465619		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155465619T>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.572A>G	4.37:g.155465619T>C	ENSP00000424417:p.His191Arg					PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R	p.H191R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			7	698	-	all_hematologic(180;0.215)	Renal(120;0.0854)	191					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.572A>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667238	0.88251	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.80824	-1.42;-1.42;-1.42	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.51422	1.61	0.80722	D	1	P;B	0.39404	0.672;0.199	B;P	0.49387	0.283;0.609	D	0.84188	0.0443	10	0.56958	D	0.05	-12.8404	16.5494	0.84464	0.0:0.0:0.0:1.0	.	182;191	O43660-2;O43660	.;PLRG1_HUMAN	R	191;191;182;189	ENSP00000424417:H191R;ENSP00000377483:H191R;ENSP00000303191:H182R	ENSP00000303191:H182R	H	-	2	0	PLRG1	155685069	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	CAC		0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		63	223	0	0	0	1	0	63	223					C	155465619	T	C	155465619	3	2	79	1	0	0	0	0	1	0	0	0	12148	1696	59	4	1008	4	PLRG1	4	155465619	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	167047	155465619	35688657	5754	16071											
FGB	2244	broad.mit.edu	37	chr4	155487037	155487037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaggcctgccccaccGcccatcagtggaggtggcta	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487037G>A	ENST00000302068.4	+	2	255	c.192G>A	c.(190-192)ccG>ccA	p.P64P	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	64			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|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)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCCCCACCGCCCATCAGTG	0.557																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)ccG>ccA		fibrinogen beta chain	Sucralfate(DB00364)						39	43	42					4																	155487037		2203	4300	6503	SO:0001819	synonymous_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487037G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.192G>A	4.37:g.155487037G>A						FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.P64P	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			2	255	+	all_hematologic(180;0.215)	Renal(120;0.0458)	64		Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	c.192G>A	CCDS3786.1																																																																																				0.557	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		42	270	0	0	0	1	0	42	270					A	155487037	G	A	155487037	2	1	79	1	0	0	0	0	0	0	0	1	5856	1074	38	1		1	FGB	4	155487037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21418	155487037	35667239	5755	16072											
FGB	2244	broad.mit.edu	37	chr4	155487113	155487113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtagaaagaaaagccCctgatgctggaggctgtctt	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487113C>A	ENST00000302068.4	+	2	331	c.268C>A	c.(268-270)Cct>Act	p.P90T	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	90			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|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)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGAAAAGCCCCTGATGCTGG	0.572																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(268-270)Cct>Act		fibrinogen beta chain	Sucralfate(DB00364)						40	39	39					4																	155487113		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487113C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.268C>A	4.37:g.155487113C>A	ENSP00000306099:p.Pro90Thr					FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.P90T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			2	331	+	all_hematologic(180;0.215)	Renal(120;0.0458)	90		Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.268C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624088	0.87560	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.84800	-1.9	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.100346	0.64402	D	0.000001	D	0.91928	0.7444	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.92645	0.6128	10	0.72032	D	0.01	.	19.1257	0.93382	0.0:1.0:0.0:0.0	.	90	P02675	FIBB_HUMAN	T	90;73	ENSP00000306099:P90T	ENSP00000306099:P90T	P	+	1	0	FGB	155706563	0.998000	0.40836	0.980000	0.43619	0.986000	0.74619	5.391000	0.66266	2.597000	0.87782	0.591000	0.81541	CCT		0.572	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		36	191	1	0	1.04352e-10	1	1.10821e-10	36	191					A	155487113	C	A	155487113	3	1	79	1	0	0	0	0	1	0	0	0	5856	623	22	3	274	3	FGB	4	155487113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	155487113	35667163	5756	16073											
FGB	2244	broad.mit.edu	37	chr4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaccaacacagatgggaaGaattactgtggcctaccagg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000302068.4	+	6	1002	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.K94N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|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)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(937-939)aaG>aaT		fibrinogen beta chain	Sucralfate(DB00364)						137	130	132					4																	155490440		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490440G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.939G>T	4.37:g.155490440G>T	ENSP00000306099:p.Lys313Asn					FGB_ENST00000509493.1_Missense_Mutation_p.K94N|FGB_ENST00000502545.1_3'UTR	p.K313N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			6	1002	+	all_hematologic(180;0.215)	Renal(120;0.0458)	313			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.939G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099002	0.37048	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81163	-1.46;-1.46	5.67	-2.43	0.06522	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78223	2.4	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87404	0.2371	10	0.87932	D	0	.	14.6258	0.68621	0.3111:0.0:0.6889:0.0	.	296;313	B4E1D3;P02675	.;FIBB_HUMAN	N	313;296;94	ENSP00000306099:K313N;ENSP00000426757:K94N	ENSP00000306099:K313N	K	+	3	2	FGB	155709890	0.585000	0.26774	0.512000	0.27736	0.144000	0.21451	-0.021000	0.12504	-0.316000	0.08690	-0.302000	0.09304	AAG		0.378	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		50	578	1	0	1.63038e-21	1	1.83746e-21	50	578					T	155490440	G	T	155490440	3	4	79	1	0	0	0	0	1	0	0	0	5856	933	33	3	961	3	FGB	4	155490440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3327	155490440	35663836	5757	16074											
FGB	2244	broad.mit.edu	37	chr4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagacaaagtaaaggctcaCtatggaggattcactgtaca	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000302068.4	+	7	1128	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.H136Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	355	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|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)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1063-1065)caC>caA		fibrinogen beta chain	Sucralfate(DB00364)						111	102	105					4																	155490772		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490772C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1065C>A	4.37:g.155490772C>A	ENSP00000306099:p.His355Gln					FGB_ENST00000509493.1_Missense_Mutation_p.H136Q|FGB_ENST00000502545.1_Intron	p.H355Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1128	+	all_hematologic(180;0.215)	Renal(120;0.0458)	355			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1065C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.347836	0.00219	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.75821	-0.97;-0.97	5.53	-0.582	0.11709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.679797	0.15903	N	0.239000	T	0.31071	0.0785	N	0.00750	-1.22	0.21220	N	0.999751	B;B	0.17038	0.02;0.003	B;B	0.12837	0.008;0.005	T	0.31530	-0.9940	10	0.07990	T	0.79	.	0.5293	0.00626	0.3762:0.1746:0.1239:0.3253	.	338;355	B4E1D3;P02675	.;FIBB_HUMAN	Q	355;338;136	ENSP00000306099:H355Q;ENSP00000426757:H136Q	ENSP00000306099:H355Q	H	+	3	2	FGB	155710222	0.000000	0.05858	0.140000	0.22221	0.075000	0.17131	-1.869000	0.01643	-0.011000	0.14247	-0.961000	0.02630	CAC		0.438	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		79	342	1	0	7.62596e-35	1	9.08233e-35	79	342					A	155490772	C	A	155490772	3	1	79	1	0	0	0	0	1	0	0	0	5856	564	20	3	1091	3	FGB	4	155490772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	155490772	35663504	5758	16075											
FGA	2243	broad.mit.edu	37	chr4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcttgatattgaaaatgCcactttgggtacctgaagga	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)			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)	ATTGAAAATGCCACTTTGGGT	0.378																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				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						c.(1936-1938)gGc>gAc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46	47	47					4																	155505940		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.chr4:155505940C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1937G>A	4.37:g.155505940C>T	ENSP00000306361:p.Gly646Asp						p.G646D	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2015	-	all_hematologic(180;0.215)	Renal(120;0.0458)	646			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1937G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770217	0.69992	.	.	ENSG00000171560	ENST00000302053	D	0.98987	-5.3	5.46	4.63	0.57726	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.98972	0.9650	M	0.82433	2.59	0.80722	D	1	P	0.46277	0.875	P	0.53988	0.739	D	0.98824	1.0748	10	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.9288:0.0:0.0712	.	646	P02671	FIBA_HUMAN	D	646	ENSP00000306361:G646D	ENSP00000306361:G646D	G	-	2	0	FGA	155725390	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.530000	0.60595	1.304000	0.44892	-0.143000	0.13931	GGC		0.378	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		46	329	0	0	0	1	0	46	329					T	155505940	C	T	155505940	3	4	79	1	0	0	0	0	1	0	0	0	5855	739	26	2	667	2	FGA	4	155505940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15168	155505940	35648336	5759	16076											
FGA	2243	broad.mit.edu	37	chr4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcctgggctatctgGcctaaaacttccagattcag	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	395					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)			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)	GGGCTATCTGGCCTAAAACTT	0.537																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				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						c.(1183-1185)Cca>Tca		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						81	86	84					4																	155507398		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.chr4:155507398G>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.1183C>T	4.37:g.155507398G>A	ENSP00000306361:p.Pro395Ser					FGA_ENST00000403106.3_Missense_Mutation_p.P395S	p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1261	-	all_hematologic(180;0.215)	Renal(120;0.0458)	395					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1183C>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692833	0.68271	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.69685	-0.42;1.61	5.65	4.8	0.61643	.	37.045900	0.00166	N	0.000000	D	0.82393	0.5027	M	0.73962	2.25	0.27372	N	0.955658	P;D	0.89917	0.886;1.0	P;D	0.83275	0.51;0.996	T	0.52779	-0.8530	10	0.46703	T	0.11	.	7.4811	0.27406	0.0832:0.0:0.7497:0.1671	.	395;395	P02671-2;P02671	.;FIBA_HUMAN	S	395	ENSP00000306361:P395S;ENSP00000385981:P395S	ENSP00000306361:P395S	P	-	1	0	FGA	155726848	0.996000	0.38824	0.665000	0.29768	0.944000	0.59088	1.984000	0.40658	1.379000	0.46325	0.650000	0.86243	CCA		0.537	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		101	499	0	0	0	1	0	101	499					A	155507398	G	A	155507398	3	1	79	1	0	0	0	0	1	0	0	0	5855	1203	42	2	1469	2	FGA	4	155507398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1458	155507398	35646878	5760	16077											
FGA	2243	broad.mit.edu	37	chr4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgactttgcgcttcaggaCttcaattctgcttctcagat	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	140					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)			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)	CGCTTCAGGACTTCAATTCTG	0.403																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				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						c.(418-420)Gtc>Atc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						194	177	183					4																	155508756		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.chr4:155508756C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.418G>A	4.37:g.155508756C>T	ENSP00000306361:p.Val140Ile					FGA_ENST00000403106.3_Missense_Mutation_p.V140I	p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			4	496	-	all_hematologic(180;0.215)	Renal(120;0.0458)	140					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.418G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017251	0.07959	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.84370	-1.84;-1.84	6.16	-0.556	0.11803	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.369600	0.04234	N	0.335841	T	0.57902	0.2085	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59284	-0.7483	10	0.05525	T	0.97	.	6.2462	0.20818	0.1133:0.3299:0.0:0.5568	.	140;140;140	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	I	140	ENSP00000306361:V140I;ENSP00000385981:V140I	ENSP00000306361:V140I	V	-	1	0	FGA	155728206	0.000000	0.05858	0.649000	0.29536	0.771000	0.43674	-0.481000	0.06552	-0.003000	0.14444	0.650000	0.86243	GTC		0.403	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		93	385	0	0	0	1	0	93	385					T	155508756	C	T	155508756	3	4	79	1	0	0	0	0	1	0	0	0	5855	565	20	2	2238	2	FGA	4	155508756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1358	155508756	35645520	5761	16078											
FGG	2266	broad.mit.edu	37	chr4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggaataccaccgggTtttccaagtggcccaaataa	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000336098.3	-	9	1236	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000404648.3_Missense_Mutation_p.T400P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	400	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|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)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1198-1200)Acc>Ccc		fibrinogen gamma chain	Sucralfate(DB00364)						147	138	141					4																	155526150		2203	4300	6503	SO:0001583	missense	2266				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.chr4:155526150T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1198A>C	4.37:g.155526150T>G	ENSP00000336829:p.Thr400Pro					FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000336098.3_Missense_Mutation_p.T400P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	p.T400P	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1437	-	all_hematologic(180;0.215)	Renal(120;0.0458)	400			Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.1198A>C	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161777	0.38217	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.08	-1.2	0.09554	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.788626	0.12680	N	0.448038	T	0.63034	0.2477	N	0.20483	0.58	0.09310	N	1	B;B;B;B;B	0.21381	0.01;0.003;0.055;0.002;0.044	B;B;B;B;B	0.30572	0.074;0.064;0.117;0.006;0.044	T	0.56038	-0.8045	10	0.72032	D	0.01	.	7.9052	0.29757	0.2906:0.2134:0.0:0.4961	.	297;408;400;408;400	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	P	400;408;400;408	ENSP00000384860:T400P;ENSP00000384101:T408P;ENSP00000336829:T400P;ENSP00000384552:T408P	ENSP00000336829:T400P	T	-	1	0	FGG	155745600	0.996000	0.38824	0.787000	0.31911	0.983000	0.72400	0.610000	0.24253	-0.372000	0.07992	-0.360000	0.07572	ACC		0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		102	458	0	0	0	1	0	102	458					G	155526150	T	G	155526150	3	3	79	1	0	0	0	0	1	0	0	0	5895	1725	60	4	186	4	FGG	4	155526150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17394	155526150	35628126	5762	16079											
FGG	2266	broad.mit.edu	37	chr4	155528027	155528027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactaggatcatcgccaaaaTcaaagccatcaaaggcatct	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155528027T>G	ENST00000336098.3	-	8	997	c.959A>C	c.(958-960)gAt>gCt	p.D320A	FGG_ENST00000404648.3_Missense_Mutation_p.D320A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|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)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCGCCAAAATCAAAGCCATC	0.468																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(958-960)gAt>gCt		fibrinogen gamma chain	Sucralfate(DB00364)						236	208	217					4																	155528027		2203	4300	6503	SO:0001583	missense	2266				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.chr4:155528027T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.959A>C	4.37:g.155528027T>G	ENSP00000336829:p.Asp320Ala					FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000336098.3_Missense_Mutation_p.D320A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	p.D320A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1198	-	all_hematologic(180;0.215)	Renal(120;0.0458)	320			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.959A>C	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081363	0.55753	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043772	0.85682	D	0.000000	D	0.94918	0.8357	N	0.21545	0.675	0.80722	D	1	P;P;P;P;P	0.50710	0.568;0.845;0.938;0.938;0.923	B;P;P;P;P	0.50378	0.251;0.523;0.639;0.639;0.506	D	0.93618	0.6945	10	0.15499	T	0.54	.	16.1223	0.81369	0.0:0.0:0.0:1.0	.	217;328;320;328;320	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	A	320;328;320;328	ENSP00000384860:D320A;ENSP00000384101:D328A;ENSP00000336829:D320A;ENSP00000384552:D328A	ENSP00000336829:D320A	D	-	2	0	FGG	155747477	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	4.935000	0.63498	2.201000	0.70794	0.528000	0.53228	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		14	626	0	0	0	1	0	14	626					G	155528027	T	G	155528027	3	3	79	1	0	0	0	0	1	0	0	0	5895	1435	50	4	429	4	FGG	4	155528027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1877	155528027	35626249	5763	16080											
RBM46	166863	broad.mit.edu	37	chr4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctattcccaaggaaaagaaGaaagaagaaattttagatga	9	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000281722.3	+	3	694	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000510397.1_Missense_Mutation_p.K153N	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	153	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGAAAAGAAGAAAGAAGAAA	0.328																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(457-459)aaG>aaT		RNA binding motif protein 46							62	68	66					4																	155719270		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719270G>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.459G>T	4.37:g.155719270G>T	ENSP00000281722:p.Lys153Asn					RBM46_ENST00000281722.3_Missense_Mutation_p.K153N|RBM46_ENST00000514866.1_Missense_Mutation_p.K153N	p.K153N	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	638	+	all_hematologic(180;0.24)	Renal(120;0.0854)	153			RRM 2.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.459G>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354214	0.41700	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15487	2.42;2.42;2.42	5.79	0.892	0.19230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.102857	0.64402	D	0.000002	T	0.26702	0.0653	L	0.54323	1.7	0.39437	D	0.967185	B;P;P	0.41569	0.34;0.755;0.578	B;P;P	0.53809	0.215;0.735;0.568	T	0.02617	-1.1133	10	0.48119	T	0.1	-17.5845	10.4173	0.44329	0.5062:0.0:0.4938:0.0	.	153;153;153	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	N	153	ENSP00000424500:K153N;ENSP00000281722:K153N;ENSP00000422813:K153N	ENSP00000281722:K153N	K	+	3	2	RBM46	155938720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.876000	0.39588	0.189000	0.20188	-0.251000	0.11542	AAG		0.328	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		63	343	1	0	8.77104e-35	1	1.04431e-34	63	343					T	155719270	G	T	155719270	3	4	79	1	0	0	0	0	1	0	0	0	13190	933	33	3	465	3	RBM46	4	155719270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191243	155719270	35435006	5764	16081											
RBM46	166863	broad.mit.edu	37	chr4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatccaggctatcctttgTcaccaacaatatcacttgct	4	13	2	0	rs564343316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000281722.3	+	5	1760	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	509							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTATCCTTTGTCACCAACAAT	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		16339	0.0		0.0	False		,,,				2504	0.001					ENST00000281722.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(1525-1527)Tca>Cca		RNA binding motif protein 46							168	161	163					4																	155749142		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155749142T>C	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1525T>C	4.37:g.155749142T>C	ENSP00000281722:p.Ser509Pro					RBM46_ENST00000510397.1_3'UTR	p.S509P	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN			5	1760	+	all_hematologic(180;0.24)	Renal(120;0.0854)	509					B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.1525T>C	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923194	0.52653	.	.	ENSG00000151962	ENST00000281722	T	0.20463	2.07	5.67	4.49	0.54785	.	0.000000	0.43260	D	0.000590	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.15066	T	0.55	-10.9458	7.6213	0.28187	0.1256:0.0701:0.0:0.8043	.	509	Q8TBY0	RBM46_HUMAN	P	509	ENSP00000281722:S509P	ENSP00000281722:S509P	S	+	1	0	RBM46	155968592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.077000	0.40990	0.533000	0.62120	TCA		0.433	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		171	701	0	0	0	1	0	171	701					C	155749142	T	C	155749142	3	2	79	1	0	0	0	0	1	0	0	0	13190	1667	58	4	1539	4	RBM46	4	155749142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29872	155749142	35405134	5765	16082											
NPY2R	4887	broad.mit.edu	37	chr4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggagtggaaaatgggtCctgtcctgtgccacctggtg	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GAAAATGGGTCCTGTCCTGTG	0.517																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(358-360)Cct>Tct		neuropeptide Y receptor Y2							68	68	68					4																	156135449		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135449C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.358C>T	4.37:g.156135449C>T	ENSP00000332591:p.Pro120Ser					NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	847	+	all_hematologic(180;0.24)	Renal(120;0.0854)	120					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.358C>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.074551	0.01903	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.44	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.29749	0.0743	N	0.00637	-1.305	0.31948	N	0.610021	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.08179	T	0.78	.	3.4285	0.07420	0.1399:0.5778:0.1353:0.1471	.	120	P49146	NPY2R_HUMAN	S	120	ENSP00000332591:P120S;ENSP00000426366:P120S	ENSP00000332591:P120S	P	+	1	0	NPY2R	156354899	0.018000	0.18449	0.795000	0.32087	0.502000	0.33828	1.493000	0.35605	0.337000	0.23665	-0.163000	0.13421	CCT		0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		39	236	0	0	0	1	0	39	236					T	156135449	C	T	156135449	3	4	79	1	0	0	0	0	1	0	0	0	10651	855	30	2	360	2	NPY2R	4	156135449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386307	156135449	35018827	5766	16083											
NPY2R	4887	broad.mit.edu	37	chr4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagtgttccacatcatcGccatgtgctccacttttgcc	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCACATCATCGCCATGTGCTC	0.537																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(940-942)Gcc>Acc		neuropeptide Y receptor Y2							123	97	106					4																	156136031		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136031G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.940G>A	4.37:g.156136031G>A	ENSP00000332591:p.Ala314Thr					NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1429	+	all_hematologic(180;0.24)	Renal(120;0.0854)	314					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.940G>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668224	0.88348	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87349	0.2336	10	0.87932	D	0	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	314	P49146	NPY2R_HUMAN	T	314	ENSP00000332591:A314T;ENSP00000426366:A314T	ENSP00000332591:A314T	A	+	1	0	NPY2R	156355481	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	9.869000	0.99810	2.770000	0.95276	0.643000	0.83706	GCC		0.537	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		51	300	0	0	0	1	0	51	300					A	156136031	G	A	156136031	3	1	79	1	0	0	0	0	1	0	0	0	10651	1087	38	1	942	1	NPY2R	4	156136031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	582	156136031	35018245	5767	16084											
MAP9	79884	broad.mit.edu	37	chr4	156296174	156296174	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctcttattagctcatcCtgaaatgagatactgaaatc	6	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site|MAP9_ENST00000515654.1_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9						cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.e3-1		microtubule-associated protein 9							131	120	124					4																	156296174		2203	4300	6503	SO:0001630	splice_region_variant	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156296174C>T	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.76-1G>A	4.37:g.156296174C>T						MAP9_ENST00000379248.2_Splice_Site|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Splice_Site		NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	3	339	-	all_hematologic(180;0.24)	Renal(120;0.0458)						Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Splice_Site	SNP	ENST00000311277.4	37		CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708525	0.68615	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000450097	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP9	156515624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.428000	0.82296	0.655000	0.94253	.		0.368	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	Intron	27	221	0	0	0	1	0	27	221					T	156296174	C	T	156296174	5	4	79	1	0	0	0	0	0	0	1	0	9311	695	24	2	1916	2	MAP9	4	156296174	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160143	156296174	34858102	5768	16085											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attatgtgatttcaggagttCcagtggaggttatcaaagaa	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	128					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGGAGTTCCAGTGGAGGT	0.388																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(382-384)Cca>Tca		guanylate cyclase 1, soluble, alpha 3							65	70	69					4																	156631699		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631699C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.382C>T	4.37:g.156631699C>T	ENSP00000296518:p.Pro128Ser					GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000393832.3_5'UTR	p.P128S			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	591	+	all_hematologic(180;0.24)	Renal(120;0.0854)	128					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.382C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010766	0.35511	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.38	4.52	0.55395	Heme-NO binding (1);	0.095478	0.46442	D	0.000289	T	0.41143	0.1146	M	0.70275	2.135	0.51012	D	0.999901	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.21546	0.035;0.035;0.035	T	0.43572	-0.9383	10	0.02654	T	1	.	16.267	0.82593	0.0:0.867:0.133:0.0	.	128;128;128	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	128	ENSP00000424361:P128S;ENSP00000421493:P128S;ENSP00000426968:P128S;ENSP00000412201:P128S;ENSP00000296518:P128S;ENSP00000426040:P128S	ENSP00000296518:P128S	P	+	1	0	GUCY1A3	156851149	1.000000	0.71417	0.049000	0.19019	0.618000	0.37518	4.260000	0.58835	1.351000	0.45789	0.650000	0.86243	CCA		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			46	233	0	0	0	1	0	46	233					T	156631699	C	T	156631699	3	4	79	1	0	0	0	0	1	0	0	0	6924	855	30	2	396	2	GUCY1A3	4	156631699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335525	156631699	34522577	5769	16086											
GUCY1B3	2983	broad.mit.edu	37	chr4	156717528	156717528	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtatcttgccttttcaaGgaaggattgttggatgtgga	13	4	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTTTCAAGGAAGGATTGT	0.428																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e8-1		guanylate cyclase 1, soluble, beta 3							187	180	182					4																	156717528		1980	4152	6132	SO:0001630	splice_region_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156717528G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.844-1G>T	4.37:g.156717528G>T						GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site		NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	8	925	+	all_hematologic(180;0.24)	Renal(120;0.0854)						B7Z426|Q86WY5	Splice_Site	SNP	ENST00000264424.8	37		CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105229	0.56291	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY1B3	156936978	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.308000	0.96247	2.551000	0.86045	0.655000	0.94253	.		0.428	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		Intron	49	281	1	0	1.86277e-20	1	2.08787e-20	49	281					T	156717528	G	T	156717528	5	4	79	1	0	0	0	0	0	0	1	0	6925	1014	35	3	873	3	GUCY1B3	4	156717528	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85829	156717528	34436748	5770	16087											
ACCN5	51802	broad.mit.edu	37	chr4	156759990	156759990	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggagaaacacagctgaaGtacttttgtaggtcacattc	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156759990G>T	ENST00000537611.2	-	7	1087	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	347					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CACAGCTGAAGTACTTTTGTA	0.269																																						ENST00000537611.2																			0											c.(1039-1041)taC>taA		acid-sensing (proton-gated) ion channel family member 5							73	73	73					4																	156759990		2203	4296	6499	SO:0001587	stop_gained	51802					integral to membrane|plasma membrane		g.chr4:156759990G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1041C>A	4.37:g.156759990G>T	ENSP00000442477:p.Tyr347*						p.Y347*	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			7	1087	-			347						Nonsense_Mutation	SNP	ENST00000537611.2	37	c.1041C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493945	0.44352	.	.	ENSG00000256394	ENST00000537611	.	.	.	3.89	2.85	0.33270	.	0.763256	0.11072	U	0.602743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3212	0.15881	0.8159:0.0:0.1841:0.0	.	.	.	.	X	347	.	ENSP00000264432:Y347X	Y	-	3	2	ACCN5	156979440	0.997000	0.39634	0.996000	0.52242	0.011000	0.07611	1.395000	0.34520	0.753000	0.32945	0.305000	0.20034	TAC		0.269	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			13	68	1	0	2.23348e-06	1	2.30073e-06	13	68					T	156759990	G	T	156759990	4	4	79	1	0	0	0	0	0	1	0	0	132	1024	36	3	492	3	ACCN5	4	156759990	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42462	156759990	34394286	5771	16088											
ACCN5	51802	broad.mit.edu	37	chr4	156764950	156764950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgatcccagcatcaacGaaaccaagggctgggttatc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CAGCATCAACGAAACCAAGGG	0.413																																						ENST00000537611.2																			0											c.(742-744)ttC>ttT		acid-sensing (proton-gated) ion channel family member 5							122	100	108					4																	156764950		2203	4300	6503	SO:0001819	synonymous_variant	51802					integral to membrane|plasma membrane		g.chr4:156764950G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.744C>T	4.37:g.156764950G>A							p.F248F	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			5	790	-			248						Silent	SNP	ENST00000537611.2	37	c.744C>T	CCDS3793.1																																																																																				0.413	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			69	223	0	0	0	1	0	69	223					A	156764950	G	A	156764950	2	1	79	1	0	0	0	0	0	0	0	1	132	1049	37	1		1	ACCN5	4	156764950	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4960	156764950	34389326	5772	16089											
TDO2	6999	broad.mit.edu	37	chr4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttccagtgataggtAcaaggtatttgtagatttat	9	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AGTGATAGGTACAAGGTATTT	0.303																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1075-1077)tAc>tGc		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						65	66	66					4																	156840997		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156840997A>G		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.1076A>G	4.37:g.156840997A>G	ENSP00000444788:p.Tyr359Cys						p.Y359C	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	12	1140	+	all_hematologic(180;0.24)	Renal(120;0.0854)	359						Missense_Mutation	SNP	ENST00000536354.2	37	c.1076A>G	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520340	0.64747	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88209	0.2889	9	0.87932	D	0	-20.8017	16.215	0.82206	1.0:0.0:0.0:0.0	.	359	P48775	T23O_HUMAN	C	359	.	ENSP00000281525:Y359C	Y	+	2	0	TDO2	157060447	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.768000	0.91737	2.288000	0.76882	0.533000	0.62120	TAC		0.303	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		20	111	0	0	0	1	0	20	111					G	156840997	A	G	156840997	3	3	79	1	0	0	0	0	1	0	0	0	15779	391	14	4	1122	4	TDO2	4	156840997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76047	156840997	34313279	5773	16090											
CTSO	1519	broad.mit.edu	37	chr4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgggcataaccatctaCtccccaagaacttccccagg	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	304					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAACCATCTACTCCCCAAGAA	0.343																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(889-891)Gta>Ata		cathepsin O							108	101	103					4																	156849530		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156849530C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.889G>A	4.37:g.156849530C>T	ENSP00000414904:p.Val297Ile						p.V297I	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	7	958	-	all_hematologic(180;0.24)	Renal(120;0.0458)	297					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.889G>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	3.991	-0.004456	0.07773	.	.	ENSG00000256043	ENST00000433477	T	0.28895	1.59	5.32	1.38	0.22167	Peptidase C1A, papain C-terminal (2);	0.587842	0.18013	N	0.154497	T	0.12475	0.0303	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.22556	-1.0213	10	0.33940	T	0.23	.	5.6985	0.17869	0.0:0.4893:0.1324:0.3784	.	297	P43234	CATO_HUMAN	I	297	ENSP00000414904:V297I	ENSP00000281527:V297I	V	-	1	0	CTSO	157068980	0.017000	0.18338	0.379000	0.26080	0.938000	0.57974	0.020000	0.13466	-0.053000	0.13289	-0.142000	0.14014	GTA		0.343	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		62	299	0	0	0	1	0	62	299					T	156849530	C	T	156849530	3	4	79	1	0	0	0	0	1	0	0	0	4051	565	20	2	84	2	CTSO	4	156849530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8533	156849530	34304746	5774	16091											
PDGFC	56034	broad.mit.edu	37	chr4	157689048	157689048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccagaaaatggtatcGgttctctttagttcttccct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	266					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAATGGTATCGGTTCTCTTTA	0.453																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(796-798)acC>acT		platelet derived growth factor C							184	168	173					4																	157689048		2203	4299	6502	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689048G>A	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.798C>T	4.37:g.157689048G>A						PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000422544.2_Intron	p.T266T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1288	-	all_hematologic(180;0.24)	Renal(120;0.0458)	266					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.798C>T	CCDS3795.1																																																																																				0.453	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			19	579	0	0	0	1	0	19	579					A	157689048	G	A	157689048	2	1	79	1	0	0	0	0	0	0	0	1	11701	1103	39	1		1	PDGFC	4	157689048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839518	157689048	33465228	5775	16092											
PDGFC	56034	broad.mit.edu	37	chr4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactggaatttactacTcaggttggattccgcctgag	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	27					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTACTACTCAGGTTGGAT	0.542											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(79-81)Agt>Ggt		platelet derived growth factor C							121	124	123					4																	157891977		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157891977T>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.79A>G	4.37:g.157891977T>C	ENSP00000422464:p.Ser27Gly		OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1789	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G	p.S27G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	1	569	-	all_hematologic(180;0.24)	Renal(120;0.0458)	27					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.79A>G	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164081	0.09287	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15952	2.44;2.38	5.12	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.14056	0.0340	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.03807	-1.1002	10	0.87932	D	0	-15.015	10.526	0.44950	0.0:0.076:0.0:0.924	.	27	Q9NRA1	PDGFC_HUMAN	G	27	ENSP00000422464:S27G;ENSP00000410048:S27G	ENSP00000274071:S27G	S	-	1	0	PDGFC	158111427	1.000000	0.71417	0.944000	0.38274	0.010000	0.07245	3.812000	0.55628	0.805000	0.34159	0.377000	0.23210	AGT		0.542	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			69	299	0	0	0	1	0	69	299					C	157891977	T	C	157891977	3	2	79	1	0	0	0	0	1	0	0	0	11701	1551	54	4	982	4	PDGFC	4	157891977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202929	157891977	33262299	5776	16093											
GLRB	2743	broad.mit.edu	37	chr4	158057850	158057850	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccttgtcagcatgaGgtactcttttatatttcata	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000509282.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site_p.R176K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	176					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTCAGCATGAGGTACTCTTTT	0.313																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e5+1		glycine receptor, beta	Glycine(DB00145)						102	104	103					4																	158057850		2203	4299	6502	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057850G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.527+1G>A	4.37:g.158057850G>A						GLRB_ENST00000541722.1_Splice_Site_p.R176_splice|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site_p.R176_splice	p.R176_splice	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	5	797	+	all_hematologic(180;0.24)	Renal(120;0.0458)	176					A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37	c.527_splice	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999186	0.93227	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80994	-1.44;-1.44;-1.44	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.73430	2.235	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.90671	0.4598	10	0.87932	D	0	.	19.0435	0.93011	0.0:0.0:1.0:0.0	.	176	P48167	GLRB_HUMAN	K	176	ENSP00000264428:R176K;ENSP00000441873:R176K;ENSP00000427186:R176K	ENSP00000264428:R176K	R	+	2	0	GLRB	158277300	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.807000	0.99171	2.487000	0.83934	0.557000	0.71058	AGG		0.313	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Missense_Mutation	14	431	0	0	0	1	0	14	431					A	158057850	G	A	158057850	5	1	79	1	0	0	0	0	0	0	1	0	6487	1014	35	2	541	2	GLRB	4	158057850	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165873	158057850	33096426	5777	16094											
FAM198B	51313	broad.mit.edu	37	chr4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaactctgctttcctgCtcacagacggcagggtcctg	12	12	2	2	rs201753633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	296						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(886-888)aGc>aTc		family with sequence similarity 198, member B							64	70	68					4																	159091641		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159091641C>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.887G>T	4.37:g.159091641C>A	ENSP00000296530:p.Ser296Ile		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron	p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1508	-			296					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.887G>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658859	0.88154	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	.	0.079566	0.85682	D	0.000000	T	0.61899	0.2384	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.978	T	0.64605	-0.6368	10	0.72032	D	0.01	-22.296	19.2318	0.93843	0.0:1.0:0.0:0.0	.	296;296;296	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	I	296	ENSP00000296530:S296I;ENSP00000377396:S296I	ENSP00000296530:S296I	S	-	2	0	FAM198B	159311091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.536000	0.85505	0.558000	0.71614	AGC		0.502	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		76	377	1	0	9.59377e-39	1	1.15749e-38	76	377					A	159091641	C	A	159091641	3	1	79	1	0	0	0	0	1	0	0	0	5550	797	28	3	793	3	FAM198B	4	159091641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1033791	159091641	32062635	5778	16095											
FAM198B	51313	broad.mit.edu	37	chr4	159091910	159091910	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcgctctcgctgtagatCctaatgttgctctccctgga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	FAM198B_ENST00000393807.5_Silent_p.R206R|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Silent_p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGCTGTAGATCCTAATGTTGC	0.632											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(616-618)agG>agA		family with sequence similarity 198, member B							53	58	56					4																	159091910		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091910C>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.618G>A	4.37:g.159091910C>T			OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000585682.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000592057.1_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron	p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1239	-			206					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.618G>A	CCDS3798.1																																																																																				0.632	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		14	397	0	0	0	1	0	14	397					T	159091910	C	T	159091910	2	4	79	1	0	0	0	0	0	0	0	1	5550	854	30	2		2	FAM198B	4	159091910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	159091910	32062366	5779	16096											
RXFP1	59350	broad.mit.edu	37	chr4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcatttgcatgcgacCttatatcaggtctgagaaca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000307765.5	+	15	1543	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	431					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGCATGCGACCTTATATCAGG	0.378																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1291-1293)cCt>cTt		relaxin/insulin-like family peptide receptor 1							125	117	120					4																	159566237		1880	4119	5999	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159566237C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1292C>T	4.37:g.159566237C>T	ENSP00000303248:p.Pro431Leu					RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L	p.P431L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	1543	+	all_hematologic(180;0.24)	Renal(120;0.0854)	431					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1292C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654980	0.47467	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.76	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.155348	0.64402	D	0.000014	T	0.08223	0.0205	N	0.00991	-1.07	0.50039	D	0.99984	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.02654	T	1	.	8.1939	0.31385	0.1294:0.7361:0.0:0.1345	.	442;458;326;383;398;350;301;431	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	350;431;326;383;398;301	ENSP00000423306:P350L;ENSP00000303248:P431L;ENSP00000414885:P326L;ENSP00000345889:P383L;ENSP00000420712:P398L	ENSP00000303248:P431L	P	+	2	0	RXFP1	159785687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.826000	0.62715	0.767000	0.33267	-0.244000	0.11960	CCT		0.378	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		90	385	0	0	0	1	0	90	385					T	159566237	C	T	159566237	3	4	79	1	0	0	0	0	1	0	0	0	13809	681	24	2	1350	2	RXFP1	4	159566237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474327	159566237	31588039	5780	16097											
C4orf46	201725	broad.mit.edu	37	chr4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcccggggaagatgCtgcagaggcgtctgaagagg	19	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(82-84)Gca>Tca		chromosome 4 open reading frame 46							19	19	19					4																	159592872		2200	4298	6498	SO:0001583	missense	201725							g.chr4:159592872C>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.82G>T	4.37:g.159592872C>A	ENSP00000368503:p.Ala28Ser					C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S	p.A28S	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	326	-			28					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.82G>T	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224322	0.39300	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	-2.98	0.05513	.	1.353090	0.05058	N	0.479411	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15350	-1.0440	9	0.23891	T	0.37	.	3.4512	0.07499	0.4545:0.2543:0.0:0.2912	.	28	Q504U0	CD046_HUMAN	S	28	.	ENSP00000368503:A28S	A	-	1	0	C4orf46	159812322	0.070000	0.21116	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.435000	0.07264	-0.222000	0.12452	GCA		0.672	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		14	61	1	0	3.45872e-05	1	3.53336e-05	14	61					A	159592872	C	A	159592872	3	1	79	1	0	0	0	0	1	0	0	0	2281	797	28	3	267	3	C4orf46	4	159592872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26635	159592872	31561404	5781	16098											
ETFDH	2110	broad.mit.edu	37	chr4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggcgaacaagcagaaGcccttggtgttgaagtatac	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000511912.1	+	5	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	189					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(565-567)Gcc>Acc		electron-transferring-flavoprotein dehydrogenase							129	131	130					4																	159606330		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159606330G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.565G>A	4.37:g.159606330G>A	ENSP00000426638:p.Ala189Thr					ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	p.A189T	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	5	897	+	all_hematologic(180;0.24)	Renal(120;0.0458)	189					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.565G>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009916	0.54361	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95821	-3.77;-3.82;-3.77	5.73	2.97	0.34412	.	0.219823	0.47093	D	0.000260	D	0.93598	0.7956	M	0.77616	2.38	0.39314	D	0.96512	B;B;B	0.23591	0.031;0.012;0.088	B;B;B	0.25405	0.02;0.015;0.06	D	0.90089	0.4176	10	0.39692	T	0.17	-9.9469	7.7272	0.28767	0.0652:0.1201:0.6898:0.1248	.	142;128;189	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	189;24;142	ENSP00000426638:A189T;ENSP00000422735:A24T;ENSP00000303552:A142T	ENSP00000303552:A142T	A	+	1	0	ETFDH	159825780	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.621000	0.67743	0.772000	0.33382	0.563000	0.77884	GCC		0.358	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			106	522	0	0	0	1	0	106	522					A	159606330	G	A	159606330	3	1	79	1	0	0	0	0	1	0	0	0	5289	971	34	2	583	2	ETFDH	4	159606330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13458	159606330	31547946	5782	16099											
ETFDH	2110	broad.mit.edu	37	chr4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccgatggacagatcagtTttgacctcttgtcatctgtg	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000511912.1	+	12	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	516					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1546-1548)Ttt>Gtt		electron-transferring-flavoprotein dehydrogenase							198	187	191					4																	159627858		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627858T>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1546T>G	4.37:g.159627858T>G	ENSP00000426638:p.Phe516Val					ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	p.F516V	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1878	+	all_hematologic(180;0.24)	Renal(120;0.0458)	516					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1546T>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055411	0.93793	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94457	-3.43;-3.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.95260	3.645	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	0.99437	1.0937	10	0.87932	D	0	-20.7069	16.0345	0.80612	0.0:0.0:0.0:1.0	.	469;455;516	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	V	516;469	ENSP00000426638:F516V;ENSP00000303552:F469V	ENSP00000303552:F469V	F	+	1	0	ETFDH	159847308	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.183000	0.69458	0.482000	0.46254	TTT		0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			181	723	0	0	0	1	0	181	723					G	159627858	T	G	159627858	3	3	79	1	0	0	0	0	1	0	0	0	5289	1841	64	4	1592	4	ETFDH	4	159627858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21528	159627858	31526418	5783	16100											
ETFDH	2110	broad.mit.edu	37	chr4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagttttgacctcttgtcatCtgtggctctgagtggtacta	10	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000511912.1	+	12	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	521					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1561-1563)tCt>tAt		electron-transferring-flavoprotein dehydrogenase							188	177	181					4																	159627874		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627874C>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1562C>A	4.37:g.159627874C>A	ENSP00000426638:p.Ser521Tyr					ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	p.S521Y	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1894	+	all_hematologic(180;0.24)	Renal(120;0.0458)	521					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1562C>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910147	0.92107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95949	-3.86;-3.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.99372	1.0920	10	0.87932	D	0	-0.078	19.6878	0.95987	0.0:1.0:0.0:0.0	.	474;460;521	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Y	521;474	ENSP00000426638:S521Y;ENSP00000303552:S474Y	ENSP00000303552:S474Y	S	+	2	0	ETFDH	159847324	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	TCT		0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			162	715	1	0	7.05154e-75	1	8.98825e-75	162	715					A	159627874	C	A	159627874	3	1	79	1	0	0	0	0	1	0	0	0	5289	913	32	3	1608	3	ETFDH	4	159627874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	159627874	31526402	5784	16101											
PPID	5481	broad.mit.edu	37	chr4	159636465	159636466	+	Frame_Shift_Ins	INS	-	-	T													taccttaaaacttctgcataINSttttttaatagccatctccc					rs573058760	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159636465_159636466insT	ENST00000307720.3	-	6	842_843	c.735_736insA	c.(733-738)aaatatfs	p.Y246fs		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	246	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ACTTCTGCATATTTTTTAATAG	0.203																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(733-738)aaatgcfs		peptidylprolyl isomerase D																																				SO:0001589	frameshift_variant	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159636465_159636466insT		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.736dupA	4.37:g.159636471_159636471dupT	ENSP00000303754:p.Tyr246fs						p.C246fs	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	6	842_843	-	all_hematologic(180;0.24)		246					B2R9V2	Frame_Shift_Ins	INS	ENST00000307720.3	37	c.735_736insA	CCDS3801.1																																																																																				0.203	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		11	45						11	45	---	---	---	---	T	159636466	-	T	159636465	7	5	79	1	0	1	1	0	0	0	0	0	12368	449	16	0	396	0	PPID	4	159636465	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	8591	159636465	31517811	5785	16102											
FNIP2	57600	broad.mit.edu	37	chr4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgaggctgctgatgTggctcaggacccgcaggttt	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	757	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2269-2271)gTg>gCg		folliculin interacting protein 2							47	52	51					4																	159790058		1934	4141	6075	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790058T>C	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2270T>C	4.37:g.159790058T>C	ENSP00000264433:p.Val757Ala					FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	p.V757A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2345	+	all_hematologic(180;0.24)		757			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2270T>C	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	0.493	-0.874454	0.02550	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21031	2.04;2.03	5.13	-9.77	0.00500	.	3.600100	0.00424	N	0.000068	T	0.09069	0.0224	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	2.5952	0.04852	0.1927:0.3673:0.0982:0.3418	.	757	Q9P278	FNIP2_HUMAN	A	757;780	ENSP00000264433:V757A;ENSP00000368651:V780A	.	V	+	2	0	FNIP2	160009508	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.317000	0.01122	-2.063000	0.00890	-2.451000	0.00208	GTG		0.537	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		71	337	0	0	0	1	0	71	337					C	159790058	T	C	159790058	3	2	79	1	0	0	0	0	1	0	0	0	6001	1696	59	4	2320	4	FNIP2	4	159790058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	153593	159790058	31364218	5786	16103											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251584	160251584	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctataggacttttctTtctagcccaatggaagtggg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	306	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGACTTTTCTTTCTAGCCCAA	0.383																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(916-918)ctT>ctG		Rap guanine nucleotide exchange factor (GEF) 2							140	132	135					4																	160251584		1827	4079	5906	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251584T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.918T>G	4.37:g.160251584T>G							p.L306L	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1337	+	all_hematologic(180;0.24)		306			N-terminal Ras-GEF.		D3DP27	Silent	SNP	ENST00000264431.4	37	c.918T>G	CCDS43277.1																																																																																				0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		97	455	0	0	0	1	0	97	455					G	160251584	T	G	160251584	2	3	79	1	0	0	0	0	0	0	0	1	13094	1828	64	4		4	RAPGEF2	4	160251584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	461526	160251584	30902692	5787	16104											
RAPGEF2	9693	broad.mit.edu	37	chr4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcagatgaagatgctcagGagttgttgagagagagtcaa	14	4	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	704					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGATGCTCAGGAGTTGTTGAG	0.398																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(2110-2112)Gag>Aag		Rap guanine nucleotide exchange factor (GEF) 2							75	70	71					4																	160262774		1909	4136	6045	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160262774G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2110G>A	4.37:g.160262774G>A	ENSP00000264431:p.Glu704Lys						p.E704K	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	14	2529	+	all_hematologic(180;0.24)		704					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2110G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549779	0.86127	.	.	ENSG00000109756	ENST00000264431	T	0.28666	1.6	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.088202	0.85682	D	0.000000	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P	0.51057	0.941	P	0.49451	0.611	T	0.35599	-0.9782	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	704	Q9Y4G8	RPGF2_HUMAN	K	704	ENSP00000264431:E704K	ENSP00000264431:E704K	E	+	1	0	RAPGEF2	160482224	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	GAG		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		48	251	0	0	0	1	0	48	251					A	160262774	G	A	160262774	3	1	79	1	0	0	0	0	1	0	0	0	13094	1175	41	2	2164	2	RAPGEF2	4	160262774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11190	160262774	30891502	5788	16105											
RAPGEF2	9693	broad.mit.edu	37	chr4	160273849	160273849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcaggctatactttggCtcccagtggtactgtggata	11	9	1	0	rs546918296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160273849C>A	ENST00000264431.4	+	21	3814	c.3395C>A	c.(3394-3396)gCt>gAt	p.A1132D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1132	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A1120V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TATACTTTGGCTCCCAGTGGT	0.373																																						ENST00000264431.4																			1	Substitution - Missense(1)	p.A1120V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(3394-3396)gCt>gAt		Rap guanine nucleotide exchange factor (GEF) 2							95	89	91					4																	160273849		1878	4101	5979	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160273849C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3395C>A	4.37:g.160273849C>A	ENSP00000264431:p.Ala1132Asp						p.A1132D	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3814	+	all_hematologic(180;0.24)		1132			Ser-rich.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3395C>A	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.489606|1.489606	0.26686|0.26686	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000510253	T|.	0.38560|.	1.13|.	6.07|6.07	5.21|5.21	0.72293|0.72293	.|.	0.101183|.	0.64402|.	D|.	0.000002|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.36672|0.36672	1.1|1.1	0.48135|0.48135	D|D	0.999599|0.999599	B|.	0.27068|.	0.167|.	B|.	0.26202|.	0.067|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.44086|.	T|.	0.13|.	.|.	17.2077|17.2077	0.86922|0.86922	0.0:0.874:0.126:0.0|0.0:0.874:0.126:0.0	.|.	1132|.	Q9Y4G8|.	RPGF2_HUMAN|.	D|I	1132|189	ENSP00000264431:A1132D|.	ENSP00000264431:A1132D|.	A|L	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160493299|160493299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.546000|1.546000	0.36179|0.36179	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.373	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		10	357	1	0	6.40141e-05	1	6.5221e-05	10	357					A	160273849	C	A	160273849	3	1	79	1	0	0	0	0	1	0	0	0	13094	797	28	3	3477	3	RAPGEF2	4	160273849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11075	160273849	30880427	5789	16106											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaacgagtctgacccgcGcctcgccccctatcagtccc	8	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1477					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGACCCGCGCCTCGCCCCC	0.532																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4429-4431)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 2							40	44	43					4																	160277266		2082	4210	6292	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277266G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4430G>A	4.37:g.160277266G>A	ENSP00000264431:p.Arg1477His						p.R1477H	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4849	+	all_hematologic(180;0.24)		1477					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4430G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259225	0.59321	.	.	ENSG00000109756	ENST00000264431	T	0.39592	1.07	5.05	5.05	0.67936	.	0.078055	0.51477	D	0.000091	T	0.34366	0.0895	L	0.36672	1.1	0.45161	D	0.998174	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.56958	D	0.05	.	12.8136	0.57652	0.0787:0.0:0.9213:0.0	.	1477	Q9Y4G8	RPGF2_HUMAN	H	1477	ENSP00000264431:R1477H	ENSP00000264431:R1477H	R	+	2	0	RAPGEF2	160496716	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	4.472000	0.60189	2.330000	0.79161	0.563000	0.77884	CGC		0.532	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		39	155	0	0	0	1	0	39	155					A	160277266	G	A	160277266	3	1	79	1	0	0	0	0	1	0	0	0	13094	1087	38	1	4520	1	RAPGEF2	4	160277266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3417	160277266	30877010	5790	16107											
FSTL5	56884	broad.mit.edu	37	chr4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtattgaccaaacaagcCactgtcctggatttgcctgt	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2410-2412)Ggc>Agc		follistatin-like 5							209	191	197					4																	162307033		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307033C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2410G>A	4.37:g.162307033C>T	ENSP00000305334:p.Gly804Ser					FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S	p.G804S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2846	-	all_hematologic(180;0.24)		804					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2410G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930608	0.92389	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.73	5.73	0.89815	.	0.044902	0.85682	N	0.000000	T	0.54287	0.1849	M	0.74467	2.265	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	T	0.55198	-0.8178	10	0.72032	D	0.01	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	804;803;794;803	ENSP00000305334:G804S;ENSP00000368462:G803S;ENSP00000389270:G794S;ENSP00000440409:G803S	ENSP00000305334:G804S	G	-	1	0	FSTL5	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC		0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		153	614	0	0	0	1	0	153	614					T	162307033	C	T	162307033	3	4	79	1	0	0	0	0	1	0	0	0	6107	594	21	2	137	2	FSTL5	4	162307033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2029767	162307033	28847243	5791	16108											
NPY1R	4886	broad.mit.edu	37	chr4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcattatcatcattgTtgttgatttttttaaatgcg	5	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	377					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	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)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATTGTTGTTGATTTT	0.363																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(1129-1131)aAc>aTc		neuropeptide Y receptor Y1							137	138	138					4																	164246480		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246480T>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1130A>T	4.37:g.164246480T>A	ENSP00000354652:p.Asn377Ile					NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	p.N377I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1661	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	377					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1130A>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	-	3.699	-0.061899	0.07317	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.70631	-0.5;-0.07	4.7	1.89	0.25635	.	0.953966	0.08718	N	0.903992	T	0.54695	0.1874	N	0.22421	0.69	0.26868	N	0.96781	B	0.22909	0.077	B	0.23018	0.043	T	0.40664	-0.9551	10	0.26408	T	0.33	.	8.1168	0.30948	0.0:0.3237:0.0:0.6763	.	377	P25929	NPY1R_HUMAN	I	377;134	ENSP00000354652:N377I;ENSP00000427284:N134I	ENSP00000354652:N377I	N	-	2	0	NPY1R	164465930	0.426000	0.25506	0.091000	0.20842	0.758000	0.43043	0.555000	0.23422	0.246000	0.21394	0.533000	0.62120	AAC		0.363	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			89	528	0	0	0	1	0	89	528					A	164246480	T	A	164246480	3	1	79	1	0	0	0	0	1	0	0	0	10650	1725	60	5	28	5	NPY1R	4	164246480	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1939447	164246480	26907796	5792	16109											
NPY1R	4886	broad.mit.edu	37	chr4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgatttttttaaatgCgactgggcttgcttgcttca	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	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)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(1111-1113)Gca>Aca		neuropeptide Y receptor Y1							147	149	148					4																	164246499		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246499C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1111G>A	4.37:g.164246499C>T	ENSP00000354652:p.Ala371Thr					NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	p.A371T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1642	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	371					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1111G>A	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096279	0.20552	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.71103	-0.54;-0.06	5.69	2.95	0.34219	.	0.436137	0.22431	N	0.060155	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14252	T	0.57	.	7.0591	0.25115	0.1217:0.6822:0.0:0.196	.	371	P25929	NPY1R_HUMAN	T	371;128	ENSP00000354652:A371T;ENSP00000427284:A128T	ENSP00000354652:A371T	A	-	1	0	NPY1R	164465949	0.014000	0.17966	0.201000	0.23476	0.943000	0.58893	0.049000	0.14099	0.722000	0.32252	0.655000	0.94253	GCA		0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			101	636	0	0	0	1	0	101	636					T	164246499	C	T	164246499	3	4	79	1	0	0	0	0	1	0	0	0	10650	768	27	1	47	1	NPY1R	4	164246499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	164246499	26907777	5793	16110											
C4orf43	55319	broad.mit.edu	37	chr4	164434003	164434003	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggccttgcgtctcaAccttgttggtaagtgggttt	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164434003A>C	ENST00000358572.5	+	3	487	c.146A>C	c.(145-147)aAc>aCc	p.N49T	TMA16_ENST00000513272.1_Missense_Mutation_p.N49T|TMA16_ENST00000513134.1_Missense_Mutation_p.N49T|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Missense_Mutation_p.N49T	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	49						nucleus (GO:0005634)											TTGCGTCTCAACCTTGTTGGT	0.333																																						ENST00000358572.5																			0											c.(145-147)aAc>aCc		translation machinery associated 16 homolog (S. cerevisiae)							94	90	91					4																	164434003		1808	4074	5882	SO:0001583	missense	55319							g.chr4:164434003A>C		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 43"	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.146A>C	4.37:g.164434003A>C	ENSP00000351380:p.Asn49Thr					TMA16_ENST00000513272.1_Missense_Mutation_p.N49T|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Missense_Mutation_p.N49T|TMA16_ENST00000508268.1_Missense_Mutation_p.N49T	p.N49T	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			3	487	+			49					Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	c.146A>C	CCDS43278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.62|15.62	2.887367|2.887367	0.52014|0.52014	.|.	.|.	ENSG00000198498|ENSG00000198498	ENST00000358572;ENST00000513272;ENST00000513134;ENST00000508268|ENST00000509657	T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53|.	5.84|5.84	2.09|2.09	0.27110|0.27110	.|.	0.120016|.	0.85682|.	D|.	0.000000|.	T|T	0.64527|0.64527	0.2606|0.2606	M|M	0.76002|0.76002	2.32|2.32	0.44643|0.44643	D|D	0.997624|0.997624	B|.	0.30634|.	0.288|.	B|.	0.30105|.	0.111|.	T|T	0.59648|0.59648	-0.7415|-0.7415	10|5	0.14656|.	T|.	0.56|.	-20.6068|-20.6068	8.5245|8.5245	0.33296|0.33296	0.613:0.0:0.387:0.0|0.613:0.0:0.387:0.0	.|.	49|.	Q96EY4|.	CD043_HUMAN|.	T|H	49|87	ENSP00000351380:N49T;ENSP00000426933:N49T;ENSP00000423901:N49T;ENSP00000423375:N49T|.	ENSP00000351380:N49T|.	N|Q	+|+	2|3	0|2	C4orf43|C4orf43	164653453|164653453	0.940000|0.940000	0.31905|0.31905	0.977000|0.977000	0.42913|0.42913	0.838000|0.838000	0.47535|0.47535	0.681000|0.681000	0.25320|0.25320	0.146000|0.146000	0.19002|0.19002	-0.263000|-0.263000	0.10527|0.10527	AAC|CAA		0.333	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		59	228	0	0	0	1	0	59	228					C	164434003	A	C	164434003	3	2	79	1	0	0	0	0	1	0	0	0	2278	43	2	4	156	4	C4orf43	4	164434003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187504	164434003	26720273	5794	16111											
TRIM60	166655	broad.mit.edu	37	chr4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctattctctatacttttaAcgattgtttcacagaagccg	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	441	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATACTTTTAACGATTGTTTC	0.343																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1321-1323)aAc>aGc		tripartite motif containing 60							63	70	68					4																	165962546		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962546A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1322A>G	4.37:g.165962546A>G	ENSP00000421142:p.Asn441Ser					TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S	p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1538	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	441			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.1322A>G	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.329548	0.01298	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.66995	-0.24;-0.24;-0.24	2.69	-5.28	0.02755	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.284280	0.06150	N	0.674012	T	0.31979	0.0814	N	0.02685	-0.53	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35773	-0.9775	10	0.05620	T	0.96	.	6.4852	0.22085	0.2125:0.2887:0.4988:0.0	.	441	Q495X7	TRI60_HUMAN	S	441	ENSP00000421142:N441S;ENSP00000426496:N441S;ENSP00000343765:N441S	ENSP00000343765:N441S	N	+	2	0	TRIM60	166181996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.427000	0.06999	-1.292000	0.02366	-0.256000	0.11100	AAC		0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		72	296	0	0	0	1	0	72	296					G	165962546	A	G	165962546	3	3	79	1	0	0	0	0	1	0	0	0	16588	43	2	4	1324	4	TRIM60	4	165962546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1528543	165962546	25191730	5795	16112											
TMEM192	201931	broad.mit.edu	37	chr4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggattataaccgtctgaacTttcaatgggtttgtgtaatt	9	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(271-273)aaA>aaC		transmembrane protein 192							124	122	122					4																	166021946		1859	4099	5958	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166021946T>G	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.273A>C	4.37:g.166021946T>G	ENSP00000305069:p.Lys91Asn					TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	p.K91N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	3	418	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	91					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.273A>C	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147221	0.37923	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	-0.0997	0.13623	.	0.472269	0.27319	N	0.019914	T	0.41419	0.1158	L	0.57536	1.79	0.33843	D	0.631653	B	0.27351	0.176	B	0.21917	0.037	T	0.44772	-0.9306	9	0.22706	T	0.39	-1.2884	9.3717	0.38258	0.0:0.377:0.0:0.623	.	91	Q8IY95	TM192_HUMAN	N	91;87	.	ENSP00000305069:K91N	K	-	3	2	TMEM192	166241396	0.965000	0.33210	0.994000	0.49952	0.878000	0.50629	-0.079000	0.11357	0.116000	0.18110	0.402000	0.26972	AAA		0.388	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		70	325	0	0	0	1	0	70	325					G	166021946	T	G	166021946	3	3	79	1	0	0	0	0	1	0	0	0	16167	1606	56	4	558	4	TMEM192	4	166021946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59400	166021946	25132330	5796	16113											
SC4MOL	6307	broad.mit.edu	37	chr4	166254711	166254711	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcatgaagccctttatttCttattctgtttacctggatt	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166254711C>A	ENST00000261507.6	+	2	362	c.189C>A	c.(187-189)ttC>ttA	p.F63L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	63					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)	p.F63L(1)									CCCTTTATTTCTTATTCTGTT	0.279																																						ENST00000261507.6																			1	Substitution - Missense(1)	p.F63L(1)	large_intestine(1)								c.(187-189)ttC>ttA		methylsterol monooxygenase 1	NADH(DB00157)						90	94	93					4																	166254711		2203	4298	6501	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254711C>A	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.189C>A	4.37:g.166254711C>A	ENSP00000261507:p.Phe63Leu					MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	p.F63L	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN			2	362	+			63					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.189C>A	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186492	0.38609	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.58	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.90145	3.09	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.003	T	0.57435	-0.7812	10	0.46703	T	0.11	-18.31	10.0691	0.42322	0.0:0.7285:0.0:0.2715	.	63;63	D6R952;Q15800	.;MSMO1_HUMAN	L	63	ENSP00000261507:F63L;ENSP00000425241:F63L;ENSP00000423633:F63L;ENSP00000425112:F63L	ENSP00000261507:F63L	F	+	3	2	SC4MOL	166474161	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	1.956000	0.40382	0.718000	0.32166	0.561000	0.74099	TTC		0.279	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		33	153	1	0	9.65021e-13	1	1.03847e-12	33	153					A	166254711	C	A	166254711	3	1	79	1	0	0	0	0	1	0	0	0	13915	912	32	3	191	3	SC4MOL	4	166254711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232765	166254711	24899565	5797	16114											
CPE	1363	broad.mit.edu	37	chr4	166388932	166388932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggataggatagtgtaCgtgaatgagaaagaaggtgg	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	199					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGATAGTGTACGTGAATGAGA	0.418																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(595-597)taC>taT		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77	74	75					4																	166388932		2203	4300	6503	SO:0001819	synonymous_variant	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166388932C>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.597C>T	4.37:g.166388932C>T							p.Y199Y	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	3	877	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	199					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	c.597C>T	CCDS3810.1																																																																																				0.418	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		12	280	0	0	0	1	0	12	280					T	166388932	C	T	166388932	2	4	79	1	0	0	0	0	0	0	0	1	3808	547	19	1		1	CPE	4	166388932	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134221	166388932	24765344	5798	16115											
SPOCK3	50859	broad.mit.edu	37	chr4	167921568	167921568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaatgcatactttatgGcgactacatttcatctttaa	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000541354.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(289-291)cgC>cgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							138	132	134					4																	167921568		2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167921568G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.291C>T	4.37:g.167921568G>A						SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000357545.4_Silent_p.R94R	p.R97R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	5	428	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	97					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.291C>T	CCDS54817.1																																																																																				0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			79	427	0	0	0	1	0	79	427					A	167921568	G	A	167921568	2	1	79	1	0	0	0	0	0	0	0	1	15133	1190	42	2		2	SPOCK3	4	167921568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1532636	167921568	23232708	5799	16116											
DDX60	55601	broad.mit.edu	37	chr4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgacagtttaaggcaTcatgacgatactccctggtg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	853	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTAAGGCATCATGACGATA	0.358																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2557-2559)gAt>gCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84	79	81					4																	169194446		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169194446T>G	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2558A>C	4.37:g.169194446T>G	ENSP00000377344:p.Asp853Ala						p.D853A	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	18	2849	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	853			Helicase ATP-binding.		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2558A>C	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381296	0.42207	.	.	ENSG00000137628	ENST00000393743	T	0.14266	2.52	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379178	0.24808	N	0.035430	T	0.25791	0.0628	L	0.40543	1.245	0.43308	D	0.995313	D	0.60575	0.988	P	0.60541	0.876	T	0.00597	-1.1652	10	0.36615	T	0.2	.	15.6094	0.76704	0.0:0.0:0.0:1.0	.	853	Q8IY21	DDX60_HUMAN	A	853	ENSP00000377344:D853A	ENSP00000377344:D853A	D	-	2	0	DDX60	169431021	0.989000	0.36119	0.096000	0.21009	0.004000	0.04260	5.030000	0.64128	2.225000	0.72522	0.460000	0.39030	GAT		0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		63	255	0	0	0	1	0	63	255					G	169194446	T	G	169194446	3	3	79	1	0	0	0	0	1	0	0	0	4389	1435	50	4	2664	4	DDX60	4	169194446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1272878	169194446	21959830	5800	16117											
DDX60	55601	broad.mit.edu	37	chr4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataagatccacaagatagCgttcaaccagatagaagaaa	7	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(208-210)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							101	108	106					4																	169229212		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169229212C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.209G>A	4.37:g.169229212C>T	ENSP00000377344:p.Arg70His						p.R70H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	4	500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	70					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.209G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		68	323	0	0	0	1	0	68	323					T	169229212	C	T	169229212	3	4	79	1	0	0	0	0	1	0	0	0	4389	768	27	1	5069	1	DDX60	4	169229212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34766	169229212	21925064	5801	16118											
DDX60L	91351	broad.mit.edu	37	chr4	169292909	169292909	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctaacaccgactgtgcgcagGatgacctgaagaaagacatt	10	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1594							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTGCGCAGGATGACCTGAA	0.408																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4780-4782)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							68	68	68					4																	169292909		2018	4175	6193	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169292909G>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4782C>A	4.37:g.169292909G>T						DDX60L_ENST00000260184.7_Silent_p.I1594I	p.I1594I			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	36	5029	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1594					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.4782C>A																																																																																					0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	79	1	0	2.23348e-06	1	2.30073e-06	15	79					T	169292909	G	T	169292909	2	4	79	1	0	0	0	0	0	0	0	1	4390	1164	41	3		3	DDX60L	4	169292909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63697	169292909	21861367	5802	16119											
DDX60L	91351	broad.mit.edu	37	chr4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacggtacctttgcctTggcatcctctgggtcatctc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1370							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCTTTGCCTTGGCATCCTCT	0.537																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4108-4110)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							61	63	62					4																	169305771		2203	4297	6500	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169305771T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4108A>G	4.37:g.169305771T>C	ENSP00000422423:p.Lys1370Glu					DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E	p.K1370E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	30	4355	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1370					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4108A>G		.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315678	0.01331	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17528	2.27;2.27	3.55	-2.16	0.07080	.	.	.	.	.	T	0.07007	0.0178	N	0.17379	0.485	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42396	-0.9454	9	0.06494	T	0.89	.	4.8972	0.13757	0.0:0.2244:0.2885:0.4871	.	1370	Q5H9U9	DDX6L_HUMAN	E	1370	ENSP00000260184:K1370E;ENSP00000422423:K1370E	ENSP00000260184:K1370E	K	-	1	0	DDX60L	169542346	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-0.047000	0.11963	-0.142000	0.11354	-0.461000	0.05368	AAG		0.537	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		31	115	0	0	0	1	0	31	115					C	169305771	T	C	169305771	3	2	79	1	0	0	0	0	1	0	0	0	4390	1821	63	4	1048	4	DDX60L	4	169305771	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12862	169305771	21848505	5803	16120											
DDX60L	91351	broad.mit.edu	37	chr4	169312748	169312748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaaaaacaacagatttGcatggcatgtggatccctaa	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1286	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAACAGATTTGCATGGCATGT	0.378																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3856-3858)tgC>tgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							86	84	85					4																	169312748		1945	4195	6140	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169312748G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3858C>T	4.37:g.169312748G>A						DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C	p.C1286C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	29	4105	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1286			Helicase C-terminal.		Q96ND6	Silent	SNP	ENST00000511577.1	37	c.3858C>T		.	.	.	.	.	.	.	.	.	.	G	7.532	0.658798	0.14645	.	.	ENSG00000181381	ENST00000514580	.	.	.	3.61	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8765	0.24149	0.6716:0.0:0.3284:0.0	.	.	.	.	X	174	.	.	Q	-	1	0	DDX60L	169549323	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	1.312000	0.33574	0.273000	0.22049	-0.373000	0.07131	CAA		0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	64	0	0	0	1	0	10	64					A	169312748	G	A	169312748	2	1	79	1	0	0	0	0	0	0	0	1	4390	1311	46	2		2	DDX60L	4	169312748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	169312748	21841528	5804	16121											
DDX60L	91351	broad.mit.edu	37	chr4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccatttttaatccaatTtgtcaattctgcctttaagt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1062							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTAATCCAATTTGTCAATTCT	0.303																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3184-3186)Aat>Cat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							118	105	109					4																	169327130		1837	4120	5957	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169327130T>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3184A>C	4.37:g.169327130T>G	ENSP00000422423:p.Asn1062His					DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H	p.N1062H			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	24	3431	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1062					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3184A>C		.	.	.	.	.	.	.	.	.	.	T	8.303	0.820426	0.16678	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18338	2.22;2.22;2.22;2.89	3.83	1.18	0.20946	.	1.533330	0.05234	U	0.510894	T	0.15132	0.0365	L	0.42245	1.32	0.09310	N	1	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.22601	0.04;0.027;0.04	T	0.33007	-0.9885	10	0.42905	T	0.14	.	4.1836	0.10387	0.0:0.1978:0.1758:0.6265	.	1062;1062;1062	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	1062;1062;1062;758	ENSP00000260184:N1062H;ENSP00000422423:N1062H;ENSP00000422202:N1062H;ENSP00000421026:N758H	ENSP00000260184:N1062H	N	-	1	0	DDX60L	169563705	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.160000	0.16462	0.343000	0.23821	0.460000	0.39030	AAT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		13	48	0	0	0	1	0	13	48					G	169327130	T	G	169327130	3	3	79	1	0	0	0	0	1	0	0	0	4390	1841	64	4	1996	4	DDX60L	4	169327130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14382	169327130	21827146	5805	16122											
DDX60L	91351	broad.mit.edu	37	chr4	169327215	169327215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaaaaagaatgaattcCtctggacacaattccttggg	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1033							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAATGAATTCCTCTGGACACA	0.289																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3097-3099)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							67	59	61					4																	169327215		1807	4084	5891	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169327215C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3099G>A	4.37:g.169327215C>T						DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E	p.E1033E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	24	3346	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1033					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.3099G>A																																																																																					0.289	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		19	102	0	0	0	1	0	19	102					T	169327215	C	T	169327215	2	4	79	1	0	0	0	0	0	0	0	1	4390	680	24	2		2	DDX60L	4	169327215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	169327215	21827061	5806	16123											
DDX60L	91351	broad.mit.edu	37	chr4	169343747	169343747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcttatcaagtaatgGcccatgtattgcagttgaaa	7	8	3	1	rs553072291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	724							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAAGTAATGGCCCATGTATT	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17879	0.0		0.0	False		,,,				2504	0.0					ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2170-2172)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							112	119	117					4																	169343747		2129	4291	6420	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169343747G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2172C>T	4.37:g.169343747G>A						DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G	p.G724G			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	16	2419	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	724					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.2172C>T																																																																																					0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		25	102	0	0	0	1	0	25	102					A	169343747	G	A	169343747	2	1	79	1	0	0	0	0	0	0	0	1	4390	1190	42	2		2	DDX60L	4	169343747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16532	169343747	21810529	5807	16124											
PALLD	23022	broad.mit.edu	37	chr4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacgtaaagcccaaaaCgccacatcaaagaaagggtg	8	11	1	1	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000505667.1	+	2	640	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000261509.6_Missense_Mutation_p.T156M			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	156					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAGCCCAAAACGCCACATCAA	0.522									Pancreatic Cancer, Familial Clustering of				C|||	2	0.000399361	0.0	0.0	5008	,	,		18658	0.001		0.001	False		,,,				2504	0.0				Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(466-468)aCg>aTg		palladin, cytoskeletal associated protein		C	MET/THR,MET/THR	0,4406		0,0,2203	49	57	54		467,467	2.8	0	4	dbSNP_132	54	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	81,81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	156/1124,156/1107	169433122	4,13002	2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433122C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.467C>T	4.37:g.169433122C>T	ENSP00000425556:p.Thr156Met					PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000505667.1_Missense_Mutation_p.T156M|PALLD_ENST00000335742.7_5'UTR	p.T156M	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	678	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	156					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.467C>T	CCDS54818.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	12.62	1.993785	0.35131	0.0	4.65E-4	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63255	0.07;0.34;-0.03;-0.0	5.55	2.78	0.32641	.	0.958654	0.08440	U	0.945659	T	0.43875	0.1267	N	0.14661	0.345	0.23346	N	0.997863	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.45353	T	0.12	.	7.1341	0.25519	0.1355:0.7201:0.0:0.1444	.	156;156	B7ZMM5;B2RTX2	.;.	M	156;156;135;33	ENSP00000261509:T156M;ENSP00000425556:T156M;ENSP00000423063:T135M;ENSP00000328945:T33M	ENSP00000261509:T156M	T	+	2	0	PALLD	169669697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	0.669000	0.31146	-0.198000	0.12761	ACG		0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		13	415	0	0	0	1	0	13	415					T	169433122	C	T	169433122	3	4	79	1	0	0	0	0	1	0	0	0	11449	536	19	1	469	1	PALLD	4	169433122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89375	169433122	21721154	5808	16125											
PALLD	23022	broad.mit.edu	37	chr4	169433221	169433221	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttaaagccgcaaagccaaGaaacagaagcccaaatgggg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433221G>T	ENST00000505667.1	+	2	739	c.566G>T	c.(565-567)aGa>aTa	p.R189I	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.R66I|PALLD_ENST00000261509.6_Missense_Mutation_p.R189I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	189					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAGCCAAGAAACAGAAGC	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(565-567)aGa>aTa		palladin, cytoskeletal associated protein							129	143	138					4																	169433221		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433221G>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.566G>T	4.37:g.169433221G>T	ENSP00000425556:p.Arg189Ile					PALLD_ENST00000333488.4_Missense_Mutation_p.R66I|PALLD_ENST00000505667.1_Missense_Mutation_p.R189I|PALLD_ENST00000335742.7_5'UTR	p.R189I	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	777	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	189					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.566G>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859973	0.51482	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.71934	-0.61;-0.35;-0.55;-0.55	5.55	3.85	0.44370	.	0.226724	0.21905	U	0.067389	T	0.69557	0.3124	M	0.75264	2.295	0.80722	D	1	P;P	0.45396	0.857;0.857	B;B	0.42030	0.373;0.373	T	0.67106	-0.5754	10	0.31617	T	0.26	.	12.0658	0.53588	0.1395:0.0:0.8605:0.0	.	189;189	B7ZMM5;B2RTX2	.;.	I	189;189;168;66	ENSP00000261509:R189I;ENSP00000425556:R189I;ENSP00000423063:R168I;ENSP00000328945:R66I	ENSP00000261509:R189I	R	+	2	0	PALLD	169669796	1.000000	0.71417	0.045000	0.18777	0.038000	0.13279	2.536000	0.45693	0.731000	0.32448	0.591000	0.81541	AGA		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		21	881	1	0	5.26018e-13	1	5.6673e-13	21	881					T	169433221	G	T	169433221	3	4	79	1	0	0	0	0	1	0	0	0	11449	942	33	3	568	3	PALLD	4	169433221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	169433221	21721055	5809	16126											
SH3RF1	57630	broad.mit.edu	37	chr4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgttcctggttgtgcGctgcaactagtagatgggaa	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGGTTGTGCGCTGCAACTAG	0.532																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1783-1785)gCg>gTg		SH3 domain containing ring finger 1							44	49	47					4																	170037775		2198	4292	6490	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037775G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1784C>T	4.37:g.170037775G>A	ENSP00000284637:p.Ala595Val					SH3RF1_ENST00000508685.1_5'UTR	p.A595V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2125	-		Prostate(90;0.00267)|Renal(120;0.0183)	595					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1784C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922011	0.17982	.	.	ENSG00000154447	ENST00000284637	T	0.12465	2.68	5.64	4.68	0.58851	.	0.315261	0.39146	N	0.001448	T	0.09686	0.0238	N	0.25380	0.74	0.20489	N	0.999895	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	10	0.37606	T	0.19	-18.7954	9.7127	0.40256	0.1787:0.0:0.8213:0.0	.	595	Q7Z6J0	SH3R1_HUMAN	V	595	ENSP00000284637:A595V	ENSP00000284637:A595V	A	-	2	0	SH3RF1	170274350	0.984000	0.35163	0.977000	0.42913	0.003000	0.03518	1.641000	0.37197	2.653000	0.90120	0.555000	0.69702	GCG		0.532	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		63	339	0	0	0	1	0	63	339					A	170037775	G	A	170037775	3	1	79	1	0	0	0	0	1	0	0	0	14308	1087	38	1	894	1	SH3RF1	4	170037775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604554	170037775	21116501	5810	16127											
SH3RF1	57630	broad.mit.edu	37	chr4	170043380	170043380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcaaggacagtggcaGccaggagagggggtggtgga	22	5	0	1	rs181812660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170043380G>A	ENST00000284637.9	-	7	1558	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	406					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GACAGTGGCAGCCAGGAGAGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17901	0.0		0.001	False		,,,				2504	0.0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1216-1218)gCt>gTt		SH3 domain containing ring finger 1							38	34	35					4																	170043380		2203	4299	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043380G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1217C>T	4.37:g.170043380G>A	ENSP00000284637:p.Ala406Val					SH3RF1_ENST00000508685.1_5'UTR	p.A406V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1558	-		Prostate(90;0.00267)|Renal(120;0.0183)	406					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1217C>T	CCDS34099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.81	3.481472	0.63849	.	.	ENSG00000154447	ENST00000284637	T	0.13196	2.61	5.39	4.55	0.56014	.	0.327832	0.36167	N	0.002745	T	0.13072	0.0317	L	0.36672	1.1	0.40992	D	0.984865	B	0.10296	0.003	B	0.10450	0.005	T	0.04565	-1.0942	10	0.30078	T	0.28	-9.2068	15.6616	0.77190	0.0:0.0:0.862:0.138	.	406	Q7Z6J0	SH3R1_HUMAN	V	406	ENSP00000284637:A406V	ENSP00000284637:A406V	A	-	2	0	SH3RF1	170279955	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	3.950000	0.56676	1.250000	0.43966	0.585000	0.79938	GCT		0.527	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		6	121	0	0	0	1	0	6	121					A	170043380	G	A	170043380	3	1	79	1	0	0	0	0	1	0	0	0	14308	971	34	2	1473	2	SH3RF1	4	170043380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5605	170043380	21110896	5811	16128											
SH3RF1	57630	broad.mit.edu	37	chr4	170051308	170051308	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtacttatatgaacCtgccgagaaaagaaaagtta	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTATATGAACCTGCCGAGAAA	0.408																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e6-1		SH3 domain containing ring finger 1							25	26	26					4																	170051308		2203	4300	6503	SO:0001630	splice_region_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170051308C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1069-1G>A	4.37:g.170051308C>T						SH3RF1_ENST00000508685.1_Splice_Site		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	6	1410	-		Prostate(90;0.00267)|Renal(120;0.0183)						Q05BT2|Q8IW46|Q9HAM2|Q9P234	Splice_Site	SNP	ENST00000284637.9	37		CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877903	0.51801	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.49	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2401	0.65952	0.0:0.9284:0.0:0.0716	.	.	.	.	.	-1	.	.	.	-	.	.	SH3RF1	170287883	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.941000	0.75922	1.323000	0.45263	-0.142000	0.14014	.		0.408	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	Intron	20	96	0	0	0	1	0	20	96					T	170051308	C	T	170051308	5	4	79	1	0	0	0	0	0	0	1	0	14308	695	24	2	1626	2	SH3RF1	4	170051308	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7928	170051308	21102968	5812	16129											
C4orf27	54969	broad.mit.edu	37	chr4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcaaggatatcataaGgaccaactaattgaagtcca	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	83						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(247-249)cCt>cTt		chromosome 4 open reading frame 27							114	122	119					4																	170671837		2203	4300	6503	SO:0001583	missense	54969					nucleus		g.chr4:170671837G>A	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.248C>T	4.37:g.170671837G>A	ENSP00000406598:p.Pro83Leu						p.P83L	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	323	-		Prostate(90;0.00601)|Renal(120;0.0183)	83						Missense_Mutation	SNP	ENST00000393381.2	37	c.248C>T	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856558	0.71834	.	.	ENSG00000056050	ENST00000393381	T	0.73789	-0.78	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91841	0.5483	10	0.87932	D	0	0.6098	18.4262	0.90610	0.0:0.0:1.0:0.0	.	83	Q9NWY4	CD027_HUMAN	L	83	ENSP00000406598:P83L	ENSP00000406598:P83L	P	-	2	0	C4orf27	170908412	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.263000	0.78421	2.363000	0.80096	0.398000	0.26397	CCT		0.348	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		98	595	0	0	0	1	0	98	595					A	170671837	G	A	170671837	3	1	79	1	0	0	0	0	1	0	0	0	2265	1000	35	2	816	2	C4orf27	4	170671837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	620529	170671837	20482439	5813	16130											
MFAP3L	9848	broad.mit.edu	37	chr4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcaggggagtcgctccGcttcagagagttggggattg	18	8	1	1	rs184358631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTCGCTCCGCTTCAGAGAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0					ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(883-885)Cgg>Tgg		microfibrillar-associated protein 3-like							45	44	44					4																	170912876		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170912876G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.883C>T	4.37:g.170912876G>A	ENSP00000354583:p.Arg295Trp					RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	p.R295W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1190	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	295					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.883C>T	CCDS34103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.62	2.291683	0.40594	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98968	-5.28;-2.39	5.41	4.53	0.55603	.	0.053234	0.85682	D	0.000000	D	0.98551	0.9516	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99323	1.0907	10	0.72032	D	0.01	-15.6816	13.0861	0.59142	0.0:0.0:0.6621:0.3379	.	295	O75121	MFA3L_HUMAN	W	192;295	ENSP00000377307:R192W;ENSP00000354583:R295W	ENSP00000354583:R295W	R	-	1	2	MFAP3L	171149451	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	3.062000	0.49971	1.154000	0.42482	0.650000	0.86243	CGG		0.582	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		68	278	0	0	0	1	0	68	278					A	170912876	G	A	170912876	3	1	79	1	0	0	0	0	1	0	0	0	9557	1086	38	1	350	1	MFAP3L	4	170912876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241039	170912876	20241400	5814	16131											
MFAP3L	9848	broad.mit.edu	37	chr4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttagtcacactcttagCggtggctagagtggatacta	12	8	2	1	rs547471341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000361618.3	-	2	389	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACACTCTTAGCGGTGGCTAGA	0.458																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(82-84)Gct>Act		microfibrillar-associated protein 3-like							105	104	104					4																	170926947		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170926947C>T	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.82G>A	4.37:g.170926947C>T	ENSP00000354583:p.Ala28Thr					MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T	p.A28T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	389	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	28					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.82G>A	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491441	0.44249	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.88431	-1.83;-2.38;-2.38;-2.37;-2.05	5.58	4.74	0.60224	.	0.260548	0.38381	N	0.001701	D	0.85137	0.5628	M	0.64997	1.995	0.34562	D	0.712501	P	0.50710	0.938	B	0.35607	0.206	D	0.88835	0.3308	10	0.38643	T	0.18	0.1232	14.6576	0.68844	0.1455:0.8545:0.0:0.0	.	28	O75121	MFA3L_HUMAN	T	28	ENSP00000354583:A28T;ENSP00000377305:A28T;ENSP00000422571:A28T;ENSP00000425303:A28T;ENSP00000426247:A28T	ENSP00000354583:A28T	A	-	1	0	MFAP3L	171163522	1.000000	0.71417	0.143000	0.22291	0.001000	0.01503	3.465000	0.53064	1.487000	0.48415	-0.152000	0.13540	GCT		0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		24	290	0	0	0	1	0	24	290					T	170926947	C	T	170926947	3	4	79	1	0	0	0	0	1	0	0	0	9557	768	27	1	1155	1	MFAP3L	4	170926947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14071	170926947	20227329	5815	16132											
GALNTL6	442117	broad.mit.edu	37	chr4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtacatttaccagcggCggccggagtacaggcatctc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	404					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1210-1212)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							43	51	48					4																	173873248		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873248C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1210C>T	4.37:g.173873248C>T	ENSP00000423313:p.Arg404Trp					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	p.R404W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1867	+			404					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1210C>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.387781	0.82902	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68903	-0.36;-0.36	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.80944	0.4721	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.83486	0.0067	10	0.87932	D	0	.	13.997	0.64409	0.1514:0.8486:0.0:0.0	.	404	Q49A17	GLTL6_HUMAN	W	404;387	ENSP00000423313:R404W;ENSP00000423827:R387W	ENSP00000423313:R404W	R	+	1	2	GALNTL6	174109823	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.742000	0.62103	2.582000	0.87167	0.297000	0.19635	CGG		0.512	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		60	305	0	0	0	1	0	60	305					T	173873248	C	T	173873248	3	4	79	1	0	0	0	0	1	0	0	0	6253	759	27	1	1244	1	GALNTL6	4	173873248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946301	173873248	17281028	5816	16133											
GALNT7	51809	broad.mit.edu	37	chr4	174169569	174169569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcactggaccgcagcGtcaatgacttacgccaagaa	9	12	2	3	rs79967711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174169569G>A	ENST00000265000.4	+	2	648	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	189					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGACCGCAGCGTCAATGACTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20714	0.001		0.0	False		,,,				2504	0.0					ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(565-567)Gtc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)		G	ILE/VAL	0,4406		0,0,2203	77	74	75		565	0.6	1	4	dbSNP_131	75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GALNT7	NM_017423.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	189/658	174169569	1,13005	2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169569G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.565G>A	4.37:g.174169569G>A	ENSP00000265000:p.Val189Ile					GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	2	648	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	189					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.565G>A	CCDS3815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.741	-0.262254	0.05791	0.0	1.16E-4	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.58940	0.3;0.3	5.93	0.628	0.17681	.	0.330029	0.35040	N	0.003483	T	0.28632	0.0709	N	0.05259	-0.085	0.47407	D	0.999412	B	0.09022	0.002	B	0.04013	0.001	T	0.08330	-1.0727	10	0.10111	T	0.7	.	9.7357	0.40386	0.5395:0.0:0.4605:0.0	.	189	Q86SF2	GALT7_HUMAN	I	189	ENSP00000265000:V189I;ENSP00000427050:V189I	ENSP00000265000:V189I	V	+	1	0	GALNT7	174406144	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	1.925000	0.40074	0.139000	0.18822	-0.140000	0.14226	GTC		0.398	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		8	390	0	0	0	1	0	8	390					A	174169569	G	A	174169569	3	1	79	1	0	0	0	0	1	0	0	0	6246	1145	40	1	571	1	GALNT7	4	174169569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296321	174169569	16984707	5817	16134											
GALNT7	51809	broad.mit.edu	37	chr4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaggcattaccatatgggGatatatcggagctgaaaaaa	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	494					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCATATGGGGATATATCGGA	0.373																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1480-1482)Gat>Aat		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							92	92	92					4																	174235199		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235199G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1480G>A	4.37:g.174235199G>A	ENSP00000265000:p.Asp494Asn						p.D494N	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1563	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	494					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1480G>A	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444255|5.444255	0.96187|0.96187	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|T	0.66280|0.66995	-0.2|-0.24	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78027|0.78027	0.4219|0.4219	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.48921|.	0.595|.	T|T	0.79230|0.79230	-0.1889|-0.1889	10|7	0.46703|0.87932	T|D	0.11|0	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q86SF2|.	GALT7_HUMAN|.	N|E	494|64	ENSP00000265000:D494N|ENSP00000427341:G64E	ENSP00000265000:D494N|ENSP00000427341:G64E	D|G	+|+	1|2	0|0	GALNT7|GALNT7	174471774|174471774	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.885000|0.885000	0.51271|0.51271	9.869000|9.869000	0.99810|0.99810	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.373	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		85	385	0	0	0	1	0	85	385					A	174235199	G	A	174235199	3	1	79	1	0	0	0	0	1	0	0	0	6246	1174	41	2	1514	2	GALNT7	4	174235199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65630	174235199	16919077	5818	16135											
HMGB2	3148	broad.mit.edu	37	chr4	174254339	174254339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgccatatcttcaaaCttcgacttctcctttgcaga	4	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000438704.2_Silent_p.K59K|HMGB2_ENST00000446922.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2	59					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(175-177)aaG>aaA		high mobility group box 2							125	127	126					4																	174254339		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254339C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.177G>A	4.37:g.174254339C>T						HMGB2_ENST00000446922.2_Silent_p.K59K|HMGB2_ENST00000438704.2_Silent_p.K59K	p.K59K			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	1050	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	59					B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.177G>A	CCDS3816.1																																																																																				0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		50	500	0	0	0	1	0	50	500					T	174254339	C	T	174254339	2	4	79	1	0	0	0	0	0	0	0	1	7256	564	20	2		2	HMGB2	4	174254339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19140	174254339	16899937	5819	16136											
HAND2	9464	broad.mit.edu	37	chr4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagctggtggccaggcGcagggtcttgattttggaga	17	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000503474.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612																																						ENST00000359562.4																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13						c.(424-426)Cgc>Tgc		heart and neural crest derivatives expressed 2							163	151	155					4																	174450017		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450017G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"Basic helix-loop-helix proteins"	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.424C>T	4.37:g.174450017G>A	ENSP00000352565:p.Arg142Cys					HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	p.R142C	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1363	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	142			Helix-loop-helix motif.		B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.424C>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574715	0.65878	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98280	-4.84	4.72	3.87	0.44632	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	D	0.000001	D	0.99180	0.9716	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-18.2081	14.3353	0.66584	0.0:0.0:0.8507:0.1493	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	C	142;111;90	ENSP00000352565:R142C	ENSP00000352565:R142C	R	-	1	0	HAND2	174686592	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.410000	0.73294	1.186000	0.42985	-0.314000	0.08810	CGC		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			26	598	0	0	0	1	0	26	598					A	174450017	G	A	174450017	3	1	79	1	0	0	0	0	1	0	0	0	6980	1087	38	1	237	1	HAND2	4	174450017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195678	174450017	16704259	5820	16137											
KIAA1712	80817	broad.mit.edu	37	chr4	175231080	175231080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcttaagaaactgacttCgatagagaaaaggttagact	8	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175231080C>T	ENST00000503780.1	+	8	1172	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L|CEP44_ENST00000457424.2_Missense_Mutation_p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)		p.S253L(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAACTGACTTCGATAGAGAAA	0.348																																						ENST00000503780.1																			1	Substitution - Missense(1)	p.S253L(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(757-759)tCg>tTg		centrosomal protein 44kDa							67	73	71					4																	175231080		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175231080C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.758C>T	4.37:g.175231080C>T	ENSP00000423153:p.Ser253Leu					CEP44_ENST00000457424.2_Missense_Mutation_p.S253L|CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L	p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			8	1172	+			253					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.758C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979512	0.00448	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.39406	1.11;1.08;1.08;1.11	5.71	-5.99	0.02213	.	1.760470	0.02397	N	0.080302	T	0.09468	0.0233	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31166	-0.9953	10	0.02654	T	1	.	3.1926	0.06623	0.1208:0.1606:0.3153:0.4033	.	253;253	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	253	ENSP00000423153:S253L;ENSP00000389427:S253L;ENSP00000408221:S253L;ENSP00000296519:S253L	ENSP00000296519:S253L	S	+	2	0	CEP44	175467655	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.168000	0.09925	-0.988000	0.03489	-1.900000	0.00529	TCG		0.348	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		26	140	0	0	0	1	0	26	140					T	175231080	C	T	175231080	3	4	79	1	0	0	0	0	1	0	0	0	8283	893	31	1	780	1	KIAA1712	4	175231080	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781063	175231080	15923196	5821	16138											
GLRA3	8001	broad.mit.edu	37	chr4	175564991	175564991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattttatagataacccaGtagaaaatattaaaaatcaa	4	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGATAACCCAGTAGAAAATAT	0.398																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1339-1341)taC>taT		glycine receptor, alpha 3	Glycine(DB00145)						79	86	84					4																	175564991		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175564991G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1341C>T	4.37:g.175564991G>A						GLRA3_ENST00000340217.5_Silent_p.Y432Y	p.Y447Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1843	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	447					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.1341C>T	CCDS3822.1																																																																																				0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			101	533	0	0	0	1	0	101	533					A	175564991	G	A	175564991	2	1	79	1	0	0	0	0	0	0	0	1	6485	1024	36	2		2	GLRA3	4	175564991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333911	175564991	15589285	5822	16139											
GLRA3	8001	broad.mit.edu	37	chr4	175636706	175636706	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatccattggacaggaAagtgttaatgttaatctgaa	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	169					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGGACAGGAAAGTGTTAATG	0.289																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(505-507)ctT>ctG		glycine receptor, alpha 3	Glycine(DB00145)						72	75	74					4																	175636706		2203	4293	6496	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175636706A>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.507T>G	4.37:g.175636706A>C						GLRA3_ENST00000340217.5_Silent_p.L169L	p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	5	1009	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	169					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.507T>G	CCDS3822.1																																																																																				0.289	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			64	210	0	0	0	1	0	64	210					C	175636706	A	C	175636706	2	2	79	1	0	0	0	0	0	0	0	1	6485	1	1	4		4	GLRA3	4	175636706	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71715	175636706	15517570	5823	16140											
ADAM29	11086	broad.mit.edu	37	chr4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgcctgataaaaggctatgGaggtagtgttgacagtggcc	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1975-1977)gGa>gTa		ADAM metallopeptidase domain 29							45	45	45					4																	175898652		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898652G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1976G>T	4.37:g.175898652G>T	ENSP00000352177:p.Gly659Val					ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V	p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2646	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	659					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1976G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497916	0.44455	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	3.32	3.32	0.38043	.	0.000000	0.34362	U	0.004024	D	0.89022	0.6597	M	0.84219	2.685	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.89814	0.3984	9	.	.	.	.	12.9119	0.58184	0.0:0.0:1.0:0.0	.	659	Q9UKF5	ADA29_HUMAN	V	659	ENSP00000352177:G659V;ENSP00000414544:G659V;ENSP00000384229:G659V;ENSP00000423517:G659V	.	G	+	2	0	ADAM29	176135227	1.000000	0.71417	0.984000	0.44739	0.355000	0.29361	7.100000	0.76989	2.150000	0.67090	0.643000	0.83706	GGA		0.398	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	213	1	0	1.10513e-12	1	1.18868e-12	20	213					T	175898652	G	T	175898652	3	4	79	1	0	0	0	0	1	0	0	0	247	1174	41	3	1978	3	ADAM29	4	175898652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261946	175898652	15255624	5824	16141											
ADAM29	11086	broad.mit.edu	37	chr4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcagttgacgccttcccaGagtcaacctcctgtgacacc	7	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	794	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2380-2382)caG>caT		ADAM metallopeptidase domain 29							153	143	146					4																	175899058		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899058G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2382G>T	4.37:g.175899058G>T	ENSP00000352177:p.Gln794His					ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H	p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3052	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	794			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2382G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152653	0.21371	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	0.727	0.18254	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.22835	N	0.998676	D	0.54964	0.969	P	0.52909	0.713	T	0.52328	-0.8590	8	.	.	.	.	4.5501	0.12108	0.0:0.4193:0.5806:0.0	.	794	Q9UKF5	ADA29_HUMAN	H	794	ENSP00000352177:Q794H;ENSP00000414544:Q794H;ENSP00000384229:Q794H;ENSP00000423517:Q794H	.	Q	+	3	2	ADAM29	176135633	0.001000	0.12720	0.031000	0.17742	0.054000	0.15201	0.177000	0.16801	0.675000	0.31264	0.297000	0.19635	CAG		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				118	608	1	0	1.93806e-58	1	2.4311e-58	118	608					T	175899058	G	T	175899058	3	4	79	1	0	0	0	0	1	0	0	0	247	933	33	3	2384	3	ADAM29	4	175899058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406	175899058	15255218	5825	16142											
GPM6A	2823	broad.mit.edu	37	chr4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactgacgaaggtccaaGcagagatttgctccctccac	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	174					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(520-522)tgC>tgA		glycoprotein M6A							145	136	139					4																	176573004		2203	4300	6503	SO:0001587	stop_gained	2823					cell surface|integral to membrane		g.chr4:176573004G>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.522C>A	4.37:g.176573004G>T	ENSP00000280187:p.Cys174*					GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	p.C174*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	5	567	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	174					B7Z642|E9PHI5|Q92602	Nonsense_Mutation	SNP	ENST00000280187.7	37	c.522C>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723191	0.96847	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9161	14.235	0.65919	0.0712:0.0:0.9288:0.0	.	.	.	.	X	174;174;163;167;166;111;111	.	ENSP00000280187:C174X	C	-	3	2	GPM6A	176809998	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	6.327000	0.72910	2.822000	0.97130	0.650000	0.86243	TGC		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			60	352	1	0	1.72039e-30	1	2.01868e-30	60	352					T	176573004	G	T	176573004	4	4	79	1	0	0	0	0	0	1	0	0	6644	963	34	3	330	3	GPM6A	4	176573004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673946	176573004	14581272	5826	16143											
WDR17	116966	broad.mit.edu	37	chr4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattatactcaggatgcttGcatcaatattcttaatggac	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000280190.4	+	14	1958	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y|WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	601										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGGATGCTTGCATCAATATT	0.363																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1729-1731)tGc>tAc		WD repeat domain 17							167	164	165					4																	177069319		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069319G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1802G>A	4.37:g.177069319G>A	ENSP00000280190:p.Cys601Tyr					WDR17_ENST00000280190.4_Missense_Mutation_p.C601Y|WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y	p.C577Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	1982	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	601					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1730G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471884	0.84533	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63255	-0.03;-0.03;-0.03	5.77	5.77	0.91146	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	0.80363	0.4609	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79497	-0.1779	10	0.49607	T	0.09	-13.2668	19.9915	0.97366	0.0:0.0:1.0:0.0	.	577;601	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	577;577;601;584	ENSP00000422763:C577Y;ENSP00000377258:C577Y;ENSP00000280190:C601Y	ENSP00000280190:C601Y	C	+	2	0	WDR17	177306313	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGC		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			130	525	0	0	0	1	0	130	525					A	177069319	G	A	177069319	3	1	79	1	0	0	0	0	1	0	0	0	17331	1319	46	2	1852	2	WDR17	4	177069319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496315	177069319	14084957	5827	16144											
WDR17	116966	broad.mit.edu	37	chr4	177073091	177073091	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggacaaattcagagataCtgtgaacttatggttgaact	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073091C>A	ENST00000280190.4	+	18	2661	c.2505C>A	c.(2503-2505)taC>taA	p.Y835*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.Y811*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y811*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	835										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCAGAGATACTGTGAACTTA	0.348																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2431-2433)taC>taA		WD repeat domain 17							102	101	101					4																	177073091		2203	4300	6503	SO:0001587	stop_gained	116966							g.chr4:177073091C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2505C>A	4.37:g.177073091C>A	ENSP00000280190:p.Tyr835*					WDR17_ENST00000280190.4_Nonsense_Mutation_p.Y835*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y811*	p.Y811*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	17	2685	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	835					E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	c.2433C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.143522|8.143522	0.98675|0.98675	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.55|5.55	0.847|0.847	0.18961|0.18961	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.23014|.	0.0556|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40289|.	-0.9571|.	3|.	.|0.02654	.|T	.|1	-17.2167|-17.2167	10.4311|10.4311	0.44409|0.44409	0.0:0.5262:0.0:0.4738|0.0:0.5262:0.0:0.4738	.|.	.|.	.|.	.|.	M|X	78|811;811;835;818	.|.	.|ENSP00000280190:Y835X	L|Y	+|+	1|3	2|2	WDR17|WDR17	177310085|177310085	0.769000|0.769000	0.28531|0.28531	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	-0.069000|-0.069000	0.11542|0.11542	0.062000|0.062000	0.16340|0.16340	0.549000|0.549000	0.68633|0.68633	CTG|TAC		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			8	272	1	0	0.000673444	1	0.000681208	8	272					A	177073091	C	A	177073091	4	1	79	1	0	0	0	0	0	1	0	0	17331	576	20	3	2571	3	WDR17	4	177073091	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3772	177073091	14081185	5828	16145											
WDR17	116966	broad.mit.edu	37	chr4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtgaacttatggttgaaCttggagaggtaatgtgctat	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000280190.4	+	18	2680	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGGTTGAACTTGGAGAGGT	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2452-2454)Ctt>Att		WD repeat domain 17							91	90	91					4																	177073110		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177073110C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2524C>A	4.37:g.177073110C>A	ENSP00000280190:p.Leu842Ile					WDR17_ENST00000280190.4_Missense_Mutation_p.L842I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I	p.L818I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	17	2704	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	842					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2452C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980614|2.980614	0.53827|0.53827	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60424|.	0.23;0.25;0.19|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71921|0.71921	0.3397|0.3397	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.921;0.999;0.999|.	B;D;D|.	0.77557|.	0.346;0.99;0.99|.	T|T	0.68014|0.68014	-0.5521|-0.5521	10|5	0.33141|.	T|.	0.24|.	-22.248|-22.248	19.5608|19.5608	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;842|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	I|N	818;818;842;825|84	ENSP00000422763:L818I;ENSP00000377258:L818I;ENSP00000280190:L842I|.	ENSP00000280190:L842I|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177310104|177310104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.398000|7.398000	0.79919|0.79919	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	CTT|ACT		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			43	222	1	0	2.62258e-09	1	2.75829e-09	43	222					A	177073110	C	A	177073110	3	1	79	1	0	0	0	0	1	0	0	0	17331	565	20	3	2590	3	WDR17	4	177073110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	177073110	14081166	5829	16146											
ASB5	140458	broad.mit.edu	37	chr4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcatgtaatggaGtatcccaatatttgcctttc	9	9	0	0	rs371144681		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000296525.3	-	6	817	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	235					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAATGGAGTATCCCAATA	0.388																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(703-705)aCt>aTt		ankyrin repeat and SOCS box containing 5		G	ILE/THR	0,4406		0,0,2203	194	186	189		704	4.6	1	4		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/330	177138127	1,13005	2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138127G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.704C>T	4.37:g.177138127G>A	ENSP00000296525:p.Thr235Ile					ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	p.T235I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	817	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	235					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.704C>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476462	0.84640	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.85484	-0.24;-1.99	5.45	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.217812	0.47852	D	0.000203	D	0.92364	0.7577	M	0.87328	2.875	0.58432	D	0.999997	D;D	0.64830	0.989;0.994	P;D	0.63033	0.832;0.91	D	0.93496	0.6840	10	0.87932	D	0	-28.1797	16.0115	0.80406	0.0:0.1344:0.8656:0.0	.	235;182	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	I	235;182	ENSP00000296525:T235I;ENSP00000422877:T182I	ENSP00000296525:T235I	T	-	2	0	ASB5	177375121	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	7.124000	0.77185	2.712000	0.92718	0.591000	0.81541	ACT		0.388	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			149	640	0	0	0	1	0	149	640					A	177138127	G	A	177138127	3	1	79	1	0	0	0	0	1	0	0	0	1027	1029	36	2	293	2	ASB5	4	177138127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65017	177138127	14016149	5830	16147											
SPCS3	60559	broad.mit.edu	37	chr4	177249379	177249379	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcactttgaccctgtcTtggaacgtcgtaccaaatgc	8	11	2	1	rs377141735		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	147					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGACCCTGTCTTGGAACGTCG	0.363																																						ENST00000503362.1																			0				ovary(2)	2						c.(439-441)tcT>tcG		signal peptidase complex subunit 3 homolog (S. cerevisiae)		T		0,3706		0,0,1853	113	104	107		441	3.2	1	4		107	1,8185		0,1,4092	no	coding-synonymous	SPCS3	NM_021928.3		0,1,5945	GG,GT,TT		0.0122,0.0,0.0084		147/181	177249379	1,11891	1853	4093	5946	SO:0001819	synonymous_variant	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177249379T>G	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.441T>G	4.37:g.177249379T>G						SPCS3_ENST00000507001.1_3'UTR	p.S147S	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	5	554	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	147					P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	c.441T>G	CCDS54823.1																																																																																				0.363	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		9	245	0	0	0	1	0	9	245					G	177249379	T	G	177249379	2	3	79	1	0	0	0	0	0	0	0	1	15077	1596	56	4		4	SPCS3	4	177249379	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111252	177249379	13904897	5831	16148											
NEIL3	55247	broad.mit.edu	37	chr4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatcacctcatgaaaatgAtacgtgatttcagcattctc	5	11	4	3	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGAAAATGATACGTGATTT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(673-675)Ata>Gta	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	93	88	90		673	3	0.8	4	dbSNP_134	90	0,8600		0,0,4300	no	missense	NEIL3	NM_018248.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	225/606	178260982	1,13005	2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178260982A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.673A>G	4.37:g.178260982A>G	ENSP00000264596:p.Ile225Val						p.I225V	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	5	791	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	225					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.673A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273946	0.23221	2.27E-4	0.0	ENSG00000109674	ENST00000264596	T	0.21191	2.02	5.49	3.01	0.34805	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.561376	0.19738	N	0.107190	T	0.15132	0.0365	L	0.42632	1.34	0.28203	N	0.92729	B	0.11235	0.004	B	0.14023	0.01	T	0.35251	-0.9796	10	0.07325	T	0.83	-0.6797	9.803	0.40775	0.8597:0.0:0.1403:0.0	.	225	Q8TAT5	NEIL3_HUMAN	V	225	ENSP00000264596:I225V	ENSP00000264596:I225V	I	+	1	0	NEIL3	178497976	0.993000	0.37304	0.790000	0.31976	0.987000	0.75469	2.884000	0.48562	0.359000	0.24239	0.455000	0.32223	ATA		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		48	163	0	0	0	1	0	48	163					G	178260982	A	G	178260982	3	3	79	1	0	0	0	0	1	0	0	0	10362	333	12	4	691	4	NEIL3	4	178260982	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1011603	178260982	12893294	5832	16149											
NEIL3	55247	broad.mit.edu	37	chr4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctctaaacactataAggtttacaagcgtcctaatt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	247					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAACACTATAAGGTTTACAAG	0.408								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(739-741)aAg>aCg	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							87	81	83					4																	178262667		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178262667A>C	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.740A>C	4.37:g.178262667A>C	ENSP00000264596:p.Lys247Thr						p.K247T	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	6	858	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	247					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.740A>C	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811025	0.50421	.	.	ENSG00000109674	ENST00000264596	T	0.13657	2.57	5.76	4.6	0.57074	Zinc finger, DNA glycosylase/AP lyase-type (1);Ribosomal protein S13-like, H2TH (1);	0.104491	0.64402	D	0.000004	T	0.34483	0.0899	M	0.75264	2.295	0.49483	D	0.999798	D	0.89917	1.0	D	0.74674	0.984	T	0.05971	-1.0853	10	0.56958	D	0.05	-14.7212	11.2119	0.48804	0.9289:0.0:0.0711:0.0	.	247	Q8TAT5	NEIL3_HUMAN	T	247	ENSP00000264596:K247T	ENSP00000264596:K247T	K	+	2	0	NEIL3	178499661	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.990000	0.56965	2.202000	0.70862	0.533000	0.62120	AAG		0.408	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		65	223	0	0	0	1	0	65	223					C	178262667	A	C	178262667	3	2	79	1	0	0	0	0	1	0	0	0	10362	72	3	4	762	4	NEIL3	4	178262667	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1685	178262667	12891609	5833	16150											
AGA	175	broad.mit.edu	37	chr4	178352895	178352896	+	Frame_Shift_Ins	INS	-	-	T													ctttttcctcagttggctgaINStttttttcggaattataaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178352895_178352896insT	ENST00000264595.2	-	9	1134_1135	c.1007_1008insA	c.(1006-1008)aatfs	p.N336fs	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGGA	0.371																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)acafs		aspartylglucosaminidase																																				SO:0001589	frameshift_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352895_178352896insT	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008dupA	4.37:g.178352902_178352902dupT	ENSP00000264595:p.Asn336fs						p.T336fs	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1134_1135	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Frame_Shift_Ins	INS	ENST00000264595.2	37	c.1007_1008insA	CCDS3829.1																																																																																				0.371	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		37	195						37	195	---	---	---	---	T	178352896	-	T	178352895	7	5	79	1	0	1	1	0	0	0	0	0	365	330	12	0	36	0	AGA	4	178352895	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	90228	178352895	12801381	5834	16151											
AGA	175	broad.mit.edu	37	chr4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaatagtgtcatgaccacGatcatcttctgtttctttat	5	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(604-606)Cgt>Tgt		aspartylglucosaminidase							134	128	130					4																	178358577		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178358577G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.604C>T	4.37:g.178358577G>A	ENSP00000264595:p.Arg202Cys					AGA_ENST00000506853.1_5'UTR	p.R202C	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	5	731	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	202					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.604C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560688	0.27827	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.88277	-2.36;-1.92	5.53	-2.69	0.06022	.	0.903450	0.09711	N	0.765684	D	0.87962	0.6310	M	0.74647	2.275	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.76594	-0.2902	10	0.42905	T	0.14	-21.2794	16.0354	0.80625	0.1574:0.0:0.8426:0.0	.	202	P20933	ASPG_HUMAN	C	202;87	ENSP00000264595:R202C;ENSP00000423798:R87C	ENSP00000264595:R202C	R	-	1	0	AGA	178595571	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.352000	0.34033	-0.276000	0.09206	0.655000	0.94253	CGT		0.373	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		31	164	0	0	0	1	0	31	164					A	178358577	G	A	178358577	3	1	79	1	0	0	0	0	1	0	0	0	365	1058	37	1	456	1	AGA	4	178358577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5682	178358577	12795699	5835	16152											
AGA	175	broad.mit.edu	37	chr4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgttccagtactttccGtgccacaccaatagcatttt	6	11	0	0	rs386833423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	116					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTACTTTCCGTGCCACACCA	0.363																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(346-348)Cgg>Tgg		aspartylglucosaminidase							222	212	216					4																	178360778		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360778G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.346C>T	4.37:g.178360778G>A	ENSP00000264595:p.Arg116Trp					AGA_ENST00000506853.1_5'UTR	p.R116W	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	473	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	116					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.346C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923781	0.73213	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.90133	-2.62;-2.45	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.96986	0.9718	10	0.59425	D	0.04	-20.7211	15.6822	0.77381	0.0:0.0:0.7797:0.2203	.	116	P20933	ASPG_HUMAN	W	116;1	ENSP00000264595:R116W;ENSP00000423798:R1W	ENSP00000264595:R116W	R	-	1	2	AGA	178597772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.805000	0.96524	0.655000	0.94253	CGG		0.363	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		164	880	0	0	0	1	0	164	880					A	178360778	G	A	178360778	3	1	79	1	0	0	0	0	1	0	0	0	365	1144	40	1	722	1	AGA	4	178360778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2201	178360778	12793498	5836	16153											
ODZ3	55714	broad.mit.edu	37	chr4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagaacttgatattggcCgaagagcaattcaagagatt	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183594220C>T	ENST00000511685.1	+	7	1297	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGATATTGGCCGAAGAGCAAT	0.388																																						ENST00000511685.1																			0											c.(1174-1176)Cga>Tga		teneurin transmembrane protein 3							41	39	39					4																	183594220		1808	4079	5887	SO:0001587	stop_gained	55714							g.chr4:183594220C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1174C>T	4.37:g.183594220C>T	ENSP00000424226:p.Arg392*					TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*	p.R392*							7	1297	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.1174C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743866	0.98465	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000385276:R392X	R	+	1	2	ODZ3	183831214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	68	0	0	0	1	0	12	68					T	183594220	C	T	183594220	4	4	79	1	0	0	0	0	0	1	0	0	10878	644	23	1	1196	1	ODZ3	4	183594220	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5233442	183594220	7560056	5837	16154											
ODZ3	55714	broad.mit.edu	37	chr4	183659682	183659682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagataaacatcacgtgCtggatgtacagaacggtaag	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183659682C>T	ENST00000511685.1	+	18	3487	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	TENM3_ENST00000406950.2_Silent_p.L1122L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1122					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACATCACGTGCTGGATGTACA	0.438																																						ENST00000511685.1																			0											c.(3364-3366)Ctg>Ttg		teneurin transmembrane protein 3							181	175	177					4																	183659682		1984	4160	6144	SO:0001819	synonymous_variant	55714							g.chr4:183659682C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3364C>T	4.37:g.183659682C>T						TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L1122L	p.L1122L							18	3487	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.3364C>T	CCDS47165.1																																																																																				0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			31	312	0	0	0	1	0	31	312					T	183659682	C	T	183659682	2	4	79	1	0	0	0	0	0	0	0	1	10878	796	28	2		2	ODZ3	4	183659682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65462	183659682	7494594	5838	16155											
ODZ3	55714	broad.mit.edu	37	chr4	183664403	183664403	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcatcatgggcaatgggCgaaggcgcagcatttcctgc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183664403C>T	ENST00000511685.1	+	19	3583	c.3460C>T	c.(3460-3462)Cga>Tga	p.R1154*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1154*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1154					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCAATGGGCGAAGGCGCAG	0.517																																						ENST00000511685.1																			0											c.(3460-3462)Cga>Tga		teneurin transmembrane protein 3							73	75	75					4																	183664403		2030	4190	6220	SO:0001587	stop_gained	55714							g.chr4:183664403C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3460C>T	4.37:g.183664403C>T	ENSP00000424226:p.Arg1154*					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1154*	p.R1154*							19	3583	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.3460C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	43	10.331783	0.99384	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.45	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4745	0.61301	0.3937:0.6063:0.0:0.0	.	.	.	.	X	1154	.	ENSP00000385276:R1154X	R	+	1	2	ODZ3	183901397	0.994000	0.37717	0.635000	0.29338	0.905000	0.53344	3.150000	0.50662	1.514000	0.48869	0.561000	0.74099	CGA		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	217	0	0	0	1	0	6	217					T	183664403	C	T	183664403	4	4	79	1	0	0	0	0	0	1	0	0	10878	760	27	1	3530	1	ODZ3	4	183664403	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4721	183664403	7489873	5839	16156											
ODZ3	55714	broad.mit.edu	37	chr4	183675541	183675541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttttttattaaggtaCgtctggaatggcccactgac	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675541C>T	ENST00000511685.1	+	22	4144	c.4021C>T	c.(4021-4023)Cgt>Tgt	p.R1341C	TENM3_ENST00000406950.2_Missense_Mutation_p.R1341C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1341					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTAAGGTACGTCTGGAATG	0.373																																						ENST00000511685.1																			0											c.(4021-4023)Cgt>Tgt		teneurin transmembrane protein 3							27	24	25					4																	183675541		1858	4104	5962	SO:0001583	missense	55714							g.chr4:183675541C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4021C>T	4.37:g.183675541C>T	ENSP00000424226:p.Arg1341Cys					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1341C	p.R1341C							22	4144	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4021C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723418	0.68959	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87491	-2.26;-2.26	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.89928	0.6857	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	D	0.91588	0.5284	9	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	1341	Q9P273	TEN3_HUMAN	C	1341	ENSP00000424226:R1341C;ENSP00000385276:R1341C	ENSP00000385276:R1341C	R	+	1	0	ODZ3	183912535	1.000000	0.71417	0.961000	0.40146	0.828000	0.46876	6.002000	0.70693	2.906000	0.99361	0.655000	0.94253	CGT		0.373	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	37	0	0	0	1	0	5	37					T	183675541	C	T	183675541	3	4	79	1	0	0	0	0	1	0	0	0	10878	536	19	1	4103	1	ODZ3	4	183675541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11138	183675541	7478735	5840	16157											
ODZ3	55714	broad.mit.edu	37	chr4	183675695	183675695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcccggagtggaatatcCtgtggggaagcacgcggtgc	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675695C>A	ENST00000511685.1	+	22	4298	c.4175C>A	c.(4174-4176)cCt>cAt	p.P1392H	TENM3_ENST00000406950.2_Missense_Mutation_p.P1392H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTGGAATATCCTGTGGGGAAG	0.493																																						ENST00000511685.1																			0											c.(4174-4176)cCt>cAt		teneurin transmembrane protein 3							58	57	57					4																	183675695		2012	4174	6186	SO:0001583	missense	55714							g.chr4:183675695C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4175C>A	4.37:g.183675695C>A	ENSP00000424226:p.Pro1392His					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1392H	p.P1392H							22	4298	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4175C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499776	0.44455	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86497	-2.13;-2.13	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.80093	0.4560	N	0.08118	0	0.40238	D	0.977923	B	0.26258	0.145	B	0.33196	0.159	T	0.75431	-0.3320	9	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1392	Q9P273	TEN3_HUMAN	H	1392	ENSP00000424226:P1392H;ENSP00000385276:P1392H	ENSP00000385276:P1392H	P	+	2	0	ODZ3	183912689	0.401000	0.25303	0.201000	0.23476	0.894000	0.52154	3.799000	0.55529	2.941000	0.99782	0.655000	0.94253	CCT		0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			16	117	1	0	5.3912e-06	1	5.54037e-06	16	117					A	183675695	C	A	183675695	3	1	79	1	0	0	0	0	1	0	0	0	10878	681	24	3	4257	3	ODZ3	4	183675695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	183675695	7478581	5841	16158											
ODZ3	55714	broad.mit.edu	37	chr4	183713625	183713625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actacaacgaggaagggctgCttctacaaacagctttcttg	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183713625C>A	ENST00000511685.1	+	26	5923	c.5800C>A	c.(5800-5802)Ctt>Att	p.L1934I	TENM3_ENST00000406950.2_Missense_Mutation_p.L1934I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1934					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGAAGGGCTGCTTCTACAAAC	0.478																																						ENST00000511685.1																			0											c.(5800-5802)Ctt>Att		teneurin transmembrane protein 3							63	64	64					4																	183713625		1945	4131	6076	SO:0001583	missense	55714							g.chr4:183713625C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5800C>A	4.37:g.183713625C>A	ENSP00000424226:p.Leu1934Ile					TENM3_ENST00000406950.2_Missense_Mutation_p.L1934I	p.L1934I							26	5923	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5800C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636474	0.14386	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88046	-2.33;-2.33	4.74	4.74	0.60224	.	.	.	.	.	D	0.89760	0.6808	L	0.39245	1.2	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.86857	0.2027	9	0.22706	T	0.39	.	18.268	0.90057	0.0:1.0:0.0:0.0	.	1934	Q9P273	TEN3_HUMAN	I	1934	ENSP00000424226:L1934I;ENSP00000385276:L1934I	ENSP00000385276:L1934I	L	+	1	0	ODZ3	183950619	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.804000	0.69135	2.608000	0.88229	0.591000	0.81541	CTT		0.478	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			66	208	1	0	7.1157e-29	1	8.29994e-29	66	208					A	183713625	C	A	183713625	3	1	79	1	0	0	0	0	1	0	0	0	10878	797	28	3	5898	3	ODZ3	4	183713625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37930	183713625	7440651	5842	16159											
ODZ3	55714	broad.mit.edu	37	chr4	183721257	183721257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggacgaggagaaggCgcgcatcctggagcaggcgc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721257C>T	ENST00000511685.1	+	28	7976	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2618					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAGGAGAAGGCGCGCATCCTG	0.751																																						ENST00000511685.1																			0											c.(7852-7854)gCg>gTg		teneurin transmembrane protein 3							10	12	12					4																	183721257		2109	4220	6329	SO:0001583	missense	55714							g.chr4:183721257C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7853C>T	4.37:g.183721257C>T	ENSP00000424226:p.Ala2618Val					TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V	p.A2618V							28	7976	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7853C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805680	0.31961	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.16	4.16	0.48862	.	.	.	.	.	T	0.76564	0.4005	N	0.11651	0.15	0.58432	D	0.99999	B	0.11235	0.004	B	0.10450	0.005	T	0.70550	-0.4841	9	0.25751	T	0.34	.	16.9951	0.86365	0.0:1.0:0.0:0.0	.	2618	Q9P273	TEN3_HUMAN	V	2618	ENSP00000424226:A2618V;ENSP00000385276:A2618V	ENSP00000385276:A2618V	A	+	2	0	ODZ3	183958251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.738000	0.62073	2.312000	0.78011	0.455000	0.32223	GCG		0.751	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			17	54	0	0	0	1	0	17	54					T	183721257	C	T	183721257	3	4	79	1	0	0	0	0	1	0	0	0	10878	768	27	1	7959	1	ODZ3	4	183721257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7632	183721257	7433019	5843	16160											
ODZ3	55714	broad.mit.edu	37	chr4	183721417	183721417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctacgacgggtactaCgtactctcggtggagcagta	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721417C>T	ENST00000511685.1	+	28	8136	c.8013C>T	c.(8011-8013)taC>taT	p.Y2671Y	TENM3_ENST00000406950.2_Silent_p.Y2671Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2671					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACGGGTACTACGTACTCTCGG	0.701																																						ENST00000511685.1																			0											c.(8011-8013)taC>taT		teneurin transmembrane protein 3							10	11	11					4																	183721417		2041	4117	6158	SO:0001819	synonymous_variant	55714							g.chr4:183721417C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.8013C>T	4.37:g.183721417C>T						TENM3_ENST00000406950.2_Silent_p.Y2671Y	p.Y2671Y							28	8136	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.8013C>T	CCDS47165.1																																																																																				0.701	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	86	0	0	0	1	0	5	86					T	183721417	C	T	183721417	2	4	79	1	0	0	0	0	0	0	0	1	10878	547	19	1		1	ODZ3	4	183721417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	183721417	7432859	5844	16161											
WWC2	80014	broad.mit.edu	37	chr4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctgctgtgtctgatgagtCtgtggctggagacagtgggg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F|WWC2_ENST00000504005.1_Missense_Mutation_p.S348F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	666					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGATGAGTCTGTGGCTGGA	0.502																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1996-1998)tCt>tTt		WW and C2 domain containing 2							98	94	96					4																	184186218		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184186218C>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1997C>T	4.37:g.184186218C>T	ENSP00000384222:p.Ser666Phe					WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F	p.S666F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	12	2196	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	666					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1997C>T	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665799	0.88251	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.66137	0.2759	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-15.9818	18.5932	0.91222	0.0:1.0:0.0:0.0	.	666;617	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	F	666;568;617;666;348	ENSP00000384222:S666F;ENSP00000368205:S568F;ENSP00000425054:S617F;ENSP00000398577:S666F;ENSP00000427569:S348F	ENSP00000368205:S568F	S	+	2	0	WWC2	184423212	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	7.011000	0.76359	2.610000	0.88304	0.563000	0.77884	TCT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		13	180	0	0	0	1	0	13	180					T	184186218	C	T	184186218	3	4	79	1	0	0	0	0	1	0	0	0	17466	913	32	2	2043	2	WWC2	4	184186218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464801	184186218	6968058	5845	16162											
WWC2	80014	broad.mit.edu	37	chr4	184192281	184192281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccattttccagtgaggttTtcactctatggtataacttg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	ENST00000403733.3	+	16	2648	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L|WWC2_ENST00000504005.1_Missense_Mutation_p.F499L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	817					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTGAGGTTTTCACTCTATG	0.363																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2449-2451)Ttc>Ctc		WW and C2 domain containing 2							47	46	47					4																	184192281		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184192281T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2449T>C	4.37:g.184192281T>C	ENSP00000384222:p.Phe817Leu					WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L	p.F817L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	16	2648	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	817					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2449T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	9.951	1.220036	0.22373	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.52	4.35	0.52113	C2 calcium/lipid-binding domain, CaLB (1);	0.313337	0.32204	N	0.006421	T	0.29976	0.0750	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28933	0.228;0.011;0.002	B;B;B	0.30855	0.121;0.017;0.003	T	0.04509	-1.0946	10	0.10377	T	0.69	-14.1055	8.5657	0.33538	0.0:0.146:0.0:0.854	.	817;817;768	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	817;768;817;499	ENSP00000384222:F817L;ENSP00000425054:F768L;ENSP00000398577:F817L;ENSP00000427569:F499L	ENSP00000384222:F817L	F	+	1	0	WWC2	184429275	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	3.275000	0.51639	1.121000	0.41925	0.460000	0.39030	TTC		0.363	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		29	123	0	0	0	1	0	29	123					C	184192281	T	C	184192281	3	2	79	1	0	0	0	0	1	0	0	0	17466	1841	64	4	2511	4	WWC2	4	184192281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6063	184192281	6961995	5846	16163											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctacaagtgatggagatCgatctgtttccagccaaagc	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	208	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(622-624)Cga>Tga		CDKN2A interacting protein							96	92	93					4																	184367459		2203	4300	6503	SO:0001587	stop_gained	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367459C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.622C>T	4.37:g.184367459C>T	ENSP00000427108:p.Arg208*					CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.R208*	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	829	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	208			Ser-rich.		Q8TBM5|Q9NYH0	Nonsense_Mutation	SNP	ENST00000504169.1	37	c.622C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586677	0.28268	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	-6.48	0.01896	.	0.793526	0.10870	N	0.625049	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	2.12	3.8523	0.08960	0.5624:0.1348:0.1711:0.1318	.	.	.	.	X	208	.	ENSP00000427108:R208X	R	+	1	2	CDKN2AIP	184604453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-0.857000	0.04115	-1.014000	0.02459	CGA		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		19	323	0	0	0	1	0	19	323					T	184367459	C	T	184367459	4	4	79	1	0	0	0	0	0	1	0	0	3171	876	31	1	632	1	CDKN2AIP	4	184367459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175178	184367459	6786817	5847	16164											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggaaaaagcaaagaAaatgcaaaagcagttgcatc	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	521	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(1561-1563)gaA>gaT		CDKN2A interacting protein							96	100	99					4																	184368400		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184368400A>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1563A>T	4.37:g.184368400A>T	ENSP00000427108:p.Glu521Asp					CDKN2AIP_ENST00000302350.4_3'UTR	p.E521D	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1770	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	521			DRBM.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.1563A>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253071	0.22965	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.36	1.63	0.23807	Double-stranded RNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.35276	-0.9795	9	0.38643	T	0.18	-18.9966	8.8164	0.34998	0.6934:0.0:0.3066:0.0	.	521	Q9NXV6	CARF_HUMAN	D	521	.	ENSP00000427108:E521D	E	+	3	2	CDKN2AIP	184605394	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.661000	0.25023	0.482000	0.27582	0.459000	0.35465	GAA		0.378	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		56	351	0	0	0	1	0	56	351					T	184368400	A	T	184368400	3	4	79	1	0	0	0	0	1	0	0	0	3171	11	1	5	1573	5	CDKN2AIP	4	184368400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	184368400	6785876	5848	16165											
ING2	3622	broad.mit.edu	37	chr4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaagaagaccccgcaGgcagcggaccagtgaaagcc	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	154					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGACCCCGCAGGCAGCGGACC	0.463																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(460-462)aGg>aTg		inhibitor of growth family, member 2							56	59	58					4																	184431723		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431723G>T	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.461G>T	4.37:g.184431723G>T	ENSP00000307183:p.Arg154Met					ING2_ENST00000434682.2_Missense_Mutation_p.R114M	p.R154M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	663	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	154					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.461G>T	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937902	0.73557	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.211158	0.45867	D	0.000337	T	0.78941	0.4363	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;P	0.77557	0.99;0.819	T	0.78871	-0.2033	9	0.62326	D	0.03	-2.902	19.6941	0.96016	0.0:0.0:1.0:0.0	.	114;154	B6ZDS1;Q9H160	.;ING2_HUMAN	M	154;114;114	.	ENSP00000307183:R154M	R	+	2	0	ING2	184668717	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	AGG		0.463	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		49	208	1	0	6.42738e-09	1	6.74027e-09	49	208					T	184431723	G	T	184431723	3	4	79	1	0	0	0	0	1	0	0	0	7766	1000	35	3	467	3	ING2	4	184431723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63323	184431723	6722553	5849	16166											
RWDD4A	201965	broad.mit.edu	37	chr4	184572479	184572479	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcaccattttcacctAtctgaagagaaggggaaatc	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184572479A>T	ENST00000326397.5	-	3	379	c.107T>A	c.(106-108)aTa>aAa	p.I36K	RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Splice_Site_p.I36K|RNU6-479P_ENST00000516348.1_RNA	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	36	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						ATTTTCACCTATCTGAAGAGA	0.353																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.e3-1		RWD domain containing 4							100	100	100					4																	184572479		2203	4300	6503	SO:0001630	splice_region_variant	201965							g.chr4:184572479A>T	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.106-1T>A	4.37:g.184572479A>T						RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Splice_Site_p.I36_splice|RWDD4_ENST00000512740.1_Intron	p.I36_splice	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			3	379	-			36			RWD.		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Splice_Site	SNP	ENST00000326397.5	37	c.105_splice	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676715	0.88445	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000506467	T;T	0.27890	1.64;1.64	5.46	5.46	0.80206	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.134765	0.64402	D	0.000002	T	0.54127	0.1839	M	0.87547	2.89	0.80722	D	1	P	0.51933	0.949	P	0.54210	0.745	T	0.62685	-0.6802	10	0.56958	D	0.05	-23.0167	15.5389	0.76024	1.0:0.0:0.0:0.0	.	36	Q6NW29	RWDD4_HUMAN	K	36;36;28	ENSP00000388920:I36K;ENSP00000332177:I36K	ENSP00000388920:I36K	I	-	2	0	RWDD4	184809473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.383000	0.90157	2.086000	0.62901	0.533000	0.62120	ATA		0.353	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682	Missense_Mutation	8	480	0	0	0	1	0	8	480					T	184572479	A	T	184572479	5	4	79	1	0	0	0	0	0	0	1	0	13808	463	16	5	479	5	RWDD4A	4	184572479	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140756	184572479	6581797	5850	16167											
C4orf41	60684	broad.mit.edu	37	chr4	184614276	184614276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaagttcactgggacaGcattataattcaggcaagca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184614276G>T	ENST00000334690.6	+	20	2415	c.2213G>T	c.(2212-2214)aGc>aTc	p.S738I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S738I|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S344I	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	738				Missing (in Ref. 3; BAB14556). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CACTGGGACAGCATTATAATT	0.438																																						ENST00000334690.6																			0											c.(2212-2214)aGc>aTc		trafficking protein particle complex 11							75	71	72					4																	184614276		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184614276G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2213G>T	4.37:g.184614276G>T	ENSP00000335371:p.Ser738Ile					TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S344I|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S738I	p.S738I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			20	2415	+			738	Missing (in Ref. 3; BAB14556).				A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.2213G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479215	0.44044	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.1	4.26	0.50523	.	0.313099	0.38897	N	0.001521	T	0.40956	0.1138	N	0.24115	0.695	0.47547	D	0.999452	B;P;P;P	0.45634	0.427;0.782;0.863;0.662	B;P;B;B	0.44623	0.399;0.455;0.444;0.316	T	0.22871	-1.0204	9	0.36615	T	0.2	.	10.423	0.44361	0.074:0.1348:0.7912:0.0	.	469;344;738;738	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	I	738;738;738;344	.	ENSP00000335371:S738I	S	+	2	0	C4orf41	184851270	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	3.779000	0.55379	1.376000	0.46267	0.650000	0.86243	AGC		0.438	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		42	145	1	0	4.67007e-22	1	5.27622e-22	42	145					T	184614276	G	T	184614276	3	4	79	1	0	0	0	0	1	0	0	0	2277	971	34	3	2287	3	C4orf41	4	184614276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41797	184614276	6540000	5851	16168											
STOX2	56977	broad.mit.edu	37	chr4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaactcggcaagaaagCctgtcacccaagaagcactg	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	91					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(271-273)Cct>Tct		storkhead box 2							82	79	80					4																	184922582		2062	4220	6282	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184922582C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.271C>T	4.37:g.184922582C>T	ENSP00000311257:p.Pro91Ser					STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	1706	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	91					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.271C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355539	0.61293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.75050	-0.9;-0.9;-0.9	5.93	5.93	0.95920	Storkhead-box protein, winged-helix domain (1);	0.055947	0.64402	D	0.000001	T	0.58623	0.2135	N	0.05124	-0.11	0.80722	D	1	B	0.31705	0.336	B	0.34093	0.175	T	0.56498	-0.7969	9	.	.	.	-16.65	20.3539	0.98825	0.0:1.0:0.0:0.0	.	91	Q9P2F5	STOX2_HUMAN	S	91;91;29	ENSP00000311257:P91S;ENSP00000390127:P91S;ENSP00000425388:P29S	.	P	+	1	0	STOX2	185159576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.554000	0.45845	2.826000	0.97356	0.655000	0.94253	CCT		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		18	144	0	0	0	1	0	18	144					T	184922582	C	T	184922582	3	4	79	1	0	0	0	0	1	0	0	0	15372	739	26	2	277	2	STOX2	4	184922582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308306	184922582	6231694	5852	16169											
STOX2	56977	broad.mit.edu	37	chr4	184930594	184930594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcgactcttgccactgCtgcagagaagacgtgcacag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	201					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(601-603)tgC>tgT		storkhead box 2							82	86	85					4																	184930594		2139	4241	6380	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930594C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.603C>T	4.37:g.184930594C>T						STOX2_ENST00000438269.1_Silent_p.C201C	p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2038	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	201					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.603C>T	CCDS47167.1																																																																																				0.602	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		29	331	0	0	0	1	0	29	331					T	184930594	C	T	184930594	2	4	79	1	0	0	0	0	0	0	0	1	15372	805	28	2		2	STOX2	4	184930594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8012	184930594	6223682	5853	16170											
STOX2	56977	broad.mit.edu	37	chr4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaaggagagatccaggtCgatggataactccaaaggcc	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1477-1479)tCg>tTg		storkhead box 2							37	44	42					4																	184931469		1925	4150	6075	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931469C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1478C>T	4.37:g.184931469C>T	ENSP00000311257:p.Ser493Leu					STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2913	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	493					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1478C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078638	0.76528	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.84730	-0.91;-1.89	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.89592	0.3828	10	0.72032	D	0.01	-15.3942	19.9142	0.97043	0.0:1.0:0.0:0.0	.	493;493	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	L	493	ENSP00000311257:S493L;ENSP00000390127:S493L	ENSP00000311257:S493L	S	+	2	0	STOX2	185168463	1.000000	0.71417	0.168000	0.22838	0.844000	0.47949	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCG		0.572	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		9	30	0	0	0	1	0	9	30					T	184931469	C	T	184931469	3	4	79	1	0	0	0	0	1	0	0	0	15372	893	31	1	1488	1	STOX2	4	184931469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	184931469	6222807	5854	16171											
STOX2	56977	broad.mit.edu	37	chr4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggataactccaaaggcCctctgggtgcttcttctcta	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	500					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCAAAGGCCCTCTGGGTGC	0.552																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1498-1500)Cct>Tct		storkhead box 2							36	43	41					4																	184931489		1922	4150	6072	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931489C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1498C>T	4.37:g.184931489C>T	ENSP00000311257:p.Pro500Ser					STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2933	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	500					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1498C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893427	0.72639	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.80764	0.225;0.994	T	0.80398	-0.1399	10	0.27082	T	0.32	-18.7983	19.9142	0.97043	0.0:1.0:0.0:0.0	.	500;500	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	S	500	ENSP00000311257:P500S;ENSP00000390127:P500S	ENSP00000311257:P500S	P	+	1	0	STOX2	185168483	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.519000	0.53458	2.941000	0.99782	0.655000	0.94253	CCT		0.552	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		6	51	0	0	0	1	0	6	51					T	184931489	C	T	184931489	3	4	79	1	0	0	0	0	1	0	0	0	15372	623	22	2	1508	2	STOX2	4	184931489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	184931489	6222787	5855	16172											
ENPP6	133121	broad.mit.edu	37	chr4	185074810	185074810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaggctgtctttgttgacGccaatgtcaaaggacttgtt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	106					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTGTTGACGCCAATGTCAA	0.502																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(316-318)ggC>ggA		ectonucleotide pyrophosphatase/phosphodiesterase 6							154	131	139					4																	185074810		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074810G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.318C>A	4.37:g.185074810G>T							p.G106G	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	2	459	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	106					Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.318C>A	CCDS3834.1																																																																																				0.502	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		13	242	1	0	4.3838e-07	1	4.54049e-07	13	242					T	185074810	G	T	185074810	2	4	79	1	0	0	0	0	0	0	0	1	5152	1074	38	3		3	ENPP6	4	185074810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143321	185074810	6079466	5856	16173											
CCDC111	201973	broad.mit.edu	37	chr4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatgatatttgtaaatatCggtggtgtgaaaacattgga	10	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	417					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										TTGTAAATATCGGTGGTGTGA	0.279																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(1249-1251)Cgg>Tgg									98	106	103					4																	185606792		2202	4300	6502	SO:0001583	missense	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185606792C>T	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1249C>T	4.37:g.185606792C>T	ENSP00000313816:p.Arg417Trp					CCDC111_ENST00000503752.1_Missense_Mutation_p.R417W|CCDC111_ENST00000515774.1_Missense_Mutation_p.R288W|CCDC111_ENST00000512834.1_Missense_Mutation_p.R416W	p.R417W	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	11	1682	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	417					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.1249C>T	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022764	0.93462	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.61859	0.1;0.07;0.1;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.87381	2.88	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	T	0.83015	-0.0170	10	0.87932	D	0	-30.4189	20.3207	0.98668	0.0:1.0:0.0:0.0	.	288;417;416	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	W	417;288;417;416;91	ENSP00000313816:R417W;ENSP00000421913:R288W;ENSP00000420860:R417W;ENSP00000425316:R416W	ENSP00000313816:R417W	R	+	1	2	CCDC111	185843786	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.157000	0.77461	2.813000	0.96785	0.561000	0.74099	CGG		0.279	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		102	411	0	0	0	1	0	102	411					T	185606792	C	T	185606792	3	4	79	1	0	0	0	0	1	0	0	0	2755	875	31	1	1283	1	CCDC111	4	185606792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531982	185606792	5547484	5857	16174											
ACSL1	2180	broad.mit.edu	37	chr4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctatctgcgacctgaaAtagttccgcagctctggcct	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000515030.1	-	21	2377	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	684					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)			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)	GCGACCTGAAATAGTTCCGCA	0.458																																						ENST00000515030.1																			0				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						c.(2050-2052)taT>taG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144	144	144					4																	185678324		2203	4300	6503	SO:0001587	stop_gained	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.chr4:185678324A>C	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.2052T>G	4.37:g.185678324A>C	ENSP00000422607:p.Tyr684*					ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*	p.Y684*			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)	21	2377	-		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)	684					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.2052T>G	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	A	37	6.532420	0.97641	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	6.06	-0.957	0.10350	.	0.448180	0.28600	N	0.014769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0165	7.8838	0.29637	0.4554:0.1186:0.426:0.0	.	.	.	.	X	513;684;280;684;650;513;684;684	.	ENSP00000281455:Y684X	Y	-	3	2	ACSL1	185915318	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	0.666000	0.25097	0.171000	0.19730	0.533000	0.62120	TAT		0.458	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		27	629	0	0	0	1	0	27	629					C	185678324	A	C	185678324	4	2	79	1	0	0	0	0	0	1	0	0	177	108	4	4	48	4	ACSL1	4	185678324	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71532	185678324	5475952	5858	16175											
SLC25A4	291	broad.mit.edu	37	chr4	186067969	186067969	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatttgtttccacagcCgatattatgtacacggggac	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	247					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473																																						ENST00000281456.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.e4-1		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						88	80	83					4																	186067969		2203	4300	6503	SO:0001630	splice_region_variant	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186067969C>T	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.740-1C>T	4.37:g.186067969C>T							p.A247_splice	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	873	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	247					D3DP59	Splice_Site	SNP	ENST00000281456.6	37	c.739_splice	CCDS34114.1																																																																																				0.473	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151	Silent	21	190	0	0	0	1	0	21	190					T	186067969	C	T	186067969	5	4	79	1	0	0	0	0	0	0	1	0	14554	666	23	1	755	1	SLC25A4	4	186067969	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389645	186067969	5086307	5859	16176											
KIAA1430	57587	broad.mit.edu	37	chr4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactggaggggtcaaccGctgatcgctcactcctacaa	11	14	2	1	rs192418727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18464	0.0		0.0	False		,,,				2504	0.0					ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1528-1530)gCg>gTg		KIAA1430							49	54	52					4																	186084022		1931	4138	6069	SO:0001583	missense	57587							g.chr4:186084022G>A																												ENST00000458385.2:c.1529C>T	4.37:g.186084022G>A	ENSP00000409964:p.Ala510Val						p.A510V	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	5	1648	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	510					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1529C>T	CCDS47168.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.214	0.224956	0.09916	.	.	ENSG00000164323	ENST00000458385	T	0.28666	1.6	4.7	-5.24	0.02789	.	.	.	.	.	T	0.10208	0.0250	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	9	0.15066	T	0.55	0.3863	5.5487	0.17079	0.398:0.2639:0.3381:0.0	.	510	Q9P2B7	K1430_HUMAN	V	510	ENSP00000409964:A510V	ENSP00000409964:A510V	A	-	2	0	KIAA1430	186321016	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.268000	0.08607	-1.005000	0.03417	-0.355000	0.07637	GCG		0.438	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			12	84	0	0	0	1	0	12	84					A	186084022	G	A	186084022	3	1	79	1	0	0	0	0	1	0	0	0	8262	1087	38	1	73	1	KIAA1430	4	186084022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16053	186084022	5070254	5860	16177											
KIAA1430	57587	broad.mit.edu	37	chr4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacttaatgggctatattGgccaagagtggatctggccc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		486										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTATATTGGCCAAGAGTG	0.343																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1456-1458)Caa>Aaa		KIAA1430							154	144	147					4																	186085198		1860	4094	5954	SO:0001583	missense	57587							g.chr4:186085198G>T																												ENST00000458385.2:c.1456C>A	4.37:g.186085198G>T	ENSP00000409964:p.Gln486Lys						p.Q486K	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1575	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	486					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1456C>A	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001628	0.35320	.	.	ENSG00000164323	ENST00000458385	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.02661	-1.1127	9	0.07990	T	0.79	-1.5405	17.1773	0.86844	0.0:0.0:1.0:0.0	.	486	Q9P2B7	K1430_HUMAN	K	486	ENSP00000409964:Q486K	ENSP00000409964:Q486K	Q	-	1	0	KIAA1430	186322192	1.000000	0.71417	0.895000	0.35142	0.300000	0.27592	5.747000	0.68689	2.637000	0.89404	0.655000	0.94253	CAA		0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			37	302	1	0	1.34996e-11	1	1.44199e-11	37	302					T	186085198	G	T	186085198	3	4	79	1	0	0	0	0	1	0	0	0	8262	1357	47	3	150	3	KIAA1430	4	186085198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	186085198	5069078	5861	16178											
KIAA1430	57587	broad.mit.edu	37	chr4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgaagacgactttgagGagacatcaggctcatgtttt	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(958-960)tCc>tTc		KIAA1430							83	74	76					4																	186111392		1848	4099	5947	SO:0001583	missense	57587							g.chr4:186111392G>A																												ENST00000458385.2:c.959C>T	4.37:g.186111392G>A	ENSP00000409964:p.Ser320Phe					KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	1078	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	320					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.959C>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840766	0.00573	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.42513	1.56;0.97;0.97	4.96	0.873	0.19118	.	0.644381	0.14490	N	0.316429	T	0.21761	0.0524	N	0.22421	0.69	0.09310	N	1	P;B	0.39157	0.662;0.159	B;B	0.33196	0.159;0.024	T	0.12091	-1.0561	10	0.59425	D	0.04	2.7903	3.7265	0.08477	0.1869:0.0:0.477:0.3361	.	320;320	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	F	320	ENSP00000409964:S320F;ENSP00000423312:S320F;ENSP00000296775:S320F	ENSP00000296775:S320F	S	-	2	0	KIAA1430	186348386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.320000	0.23234	0.609000	0.83330	TCC		0.353	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			31	86	0	0	0	1	0	31	86					A	186111392	G	A	186111392	3	1	79	1	0	0	0	0	1	0	0	0	8262	1174	41	2	655	2	KIAA1430	4	186111392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26194	186111392	5042884	5862	16179											
KIAA1430	57587	broad.mit.edu	37	chr4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgaagagggctaatgtCtggagttgataagggactta	14	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(784-786)Gac>Tac		KIAA1430							107	92	96					4																	186111567		1884	4107	5991	SO:0001583	missense	57587							g.chr4:186111567C>A																												ENST00000458385.2:c.784G>T	4.37:g.186111567C>A	ENSP00000409964:p.Asp262Tyr					KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	903	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	262					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.784G>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777121	0.70107	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.60920	0.7;0.15;0.15	5.55	5.55	0.83447	.	0.065347	0.64402	D	0.000013	T	0.77039	0.4072	M	0.72894	2.215	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78285	-0.2263	10	0.87932	D	0	-15.6196	19.8686	0.96842	0.0:1.0:0.0:0.0	.	262;262	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Y	262	ENSP00000409964:D262Y;ENSP00000423312:D262Y;ENSP00000296775:D262Y	ENSP00000296775:D262Y	D	-	1	0	KIAA1430	186348561	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.228000	0.72288	2.768000	0.95171	0.655000	0.94253	GAC		0.398	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			29	95	1	0	8.58068e-18	1	9.49213e-18	29	95					A	186111567	C	A	186111567	3	1	79	1	0	0	0	0	1	0	0	0	8262	913	32	3	830	3	KIAA1430	4	186111567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	186111567	5042709	5863	16180											
SNX25	83891	broad.mit.edu	37	chr4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacattaattgccctcGttcaggtcacttttggaaga	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000264694.8_Missense_Mutation_p.V710I|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	710					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATTGCCCTCGTTCAGGTCAC	0.373																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2128-2130)Gtt>Att		sorting nexin 25							165	157	160					4																	186278860		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186278860G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2128G>A	4.37:g.186278860G>A	ENSP00000426255:p.Val710Ile					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.V710I	p.V710I			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	16	2422	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	710					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2128G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546948	0.96488	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33438	1.41;1.41	5.9	5.9	0.94986	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.83275	0.943;0.909;0.996	T	0.45542	-0.9254	10	0.35671	T	0.21	-22.4775	20.2822	0.98520	0.0:0.0:1.0:0.0	.	426;243;710	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	I	710;710;243	ENSP00000426255:V710I;ENSP00000264694:V710I	ENSP00000264693:V243I	V	+	1	0	SNX25	186515854	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT		0.373	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		44	341	0	0	0	1	0	44	341					A	186278860	G	A	186278860	3	1	79	1	0	0	0	0	1	0	0	0	14946	1145	40	1	2186	1	SNX25	4	186278860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167293	186278860	4875416	5864	16181											
UFSP2	55325	broad.mit.edu	37	chr4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagatagtctgcagagatCgataagcacagccccagcca	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(913-915)cGa>cAa		UFM1-specific peptidase 2							132	117	122					4																	186329507		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329507C>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.914G>A	4.37:g.186329507C>T	ENSP00000264689:p.Arg305Gln						p.R305Q	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	1030	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	305					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.914G>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	UFSP2|UFSP2	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.428	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		37	380	0	0	0	1	0	37	380					T	186329507	C	T	186329507	3	4	79	1	0	0	0	0	1	0	0	0	16992	884	31	1	515	1	UFSP2	4	186329507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50647	186329507	4824769	5865	16182											
UFSP2	55325	broad.mit.edu	37	chr4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattgtcatctatgcgatcCtgcatataatgatgatagcc	7	10	2	2	rs201688336		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	292						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTATGCGATCCTGCATATAAT	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(874-876)caG>caT		UFM1-specific peptidase 2							112	101	105					4																	186329545		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329545C>A	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.876G>T	4.37:g.186329545C>A	ENSP00000264689:p.Gln292His						p.Q292H	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	992	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	292					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.876G>T	CCDS3842.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.55|11.55|11.55	1.672574|1.672574|1.672574	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000109775|ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689|ENST00000509180	.|T|.	.|0.31769|.	.|1.48|.	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	.|.|.	.|0.132090|.	.|0.64402|.	.|D|.	.|0.000018|.	.|T|T	.|0.74238|0.74238	.|0.3690|0.3690	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.71935|0.71935	.|-0.4442|-0.4442	.|10|5	.|0.25751|.	.|T|.	.|0.34|.	.|-3.6114|-3.6114	9.224|9.224|9.224	0.37395|0.37395|0.37395	0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608	.|.|.	.|292|.	.|Q9NUQ7|.	.|UFSP2_HUMAN|.	.|H|M	-1|292|21	.|ENSP00000264689:Q292H|.	.|ENSP00000264689:Q292H|.	.|Q|R	-|-|-	.|3|2	.|2|0	UFSP2|UFSP2|UFSP2	186566539|186566539|186566539	0.952000|0.952000|0.952000	0.32445|0.32445|0.32445	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.444000|0.444000|0.444000	0.32077|0.32077|0.32077	0.132000|0.132000|0.132000	0.15891|0.15891|0.15891	-0.039000|-0.039000|-0.039000	0.13602|0.13602|0.13602	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		73	315	1	0	7.07328e-35	1	8.4269e-35	73	315					A	186329545	C	A	186329545	3	1	79	1	0	0	0	0	1	0	0	0	16992	680	24	3	553	3	UFSP2	4	186329545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	186329545	4824731	5866	16183											
UFSP2	55325	broad.mit.edu	37	chr4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttctccaggaatggtgtTtatgtcactgctaggccata	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	69						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGAATGGTGTTTATGTCACTG	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(205-207)Aac>Cac		UFM1-specific peptidase 2							124	119	121					4																	186339802		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186339802T>G	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.205A>C	4.37:g.186339802T>G	ENSP00000264689:p.Asn69His					UFSP2_ENST00000502282.1_5'UTR	p.N69H	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	3	321	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	69					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.205A>C	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189439	0.09547	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46451	1.51;0.87	5.87	5.87	0.94306	.	0.300775	0.37136	N	0.002226	T	0.34106	0.0886	L	0.43152	1.355	0.23249	N	0.998048	B	0.29805	0.257	B	0.29176	0.099	T	0.26985	-1.0087	10	0.33940	T	0.23	-14.7842	9.8989	0.41335	0.2584:0.0:0.0:0.7416	.	69	Q9NUQ7	UFSP2_HUMAN	H	69;63	ENSP00000264689:N69H;ENSP00000423108:N63H	ENSP00000264689:N69H	N	-	1	0	UFSP2	186576796	0.989000	0.36119	0.865000	0.33974	0.052000	0.14988	2.247000	0.43151	2.242000	0.73789	0.482000	0.46254	AAC		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		43	402	0	0	0	1	0	43	402					G	186339802	T	G	186339802	3	3	79	1	0	0	0	0	1	0	0	0	16992	1841	64	4	1244	4	UFSP2	4	186339802	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10257	186339802	4814474	5867	16184											
CCDC110	256309	broad.mit.edu	37	chr4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcagtaagtctactgAtgctgttttcaaattttata	6	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000307588.3	-	6	2282	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	736						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAGTCTACTGATGCTGTTTTC	0.299																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2206-2208)aTc>aAc		coiled-coil domain containing 110							49	49	49					4																	186379534		2203	4296	6499	SO:0001583	missense	256309					nucleus		g.chr4:186379534A>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2207T>A	4.37:g.186379534A>T	ENSP00000306776:p.Ile736Asn					CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N	p.I736N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2282	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	736					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2207T>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758661	0.49468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	.	0.108971	0.40640	N	0.001057	T	0.52645	0.1747	M	0.67953	2.075	0.30694	N	0.750976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56263	-0.8008	10	0.36615	T	0.2	-5.7167	14.1879	0.65617	1.0:0.0:0.0:0.0	.	736;699;736	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	699;736;736	ENSP00000377172:I699N;ENSP00000306776:I736N;ENSP00000427246:I736N	ENSP00000306776:I736N	I	-	2	0	CCDC110	186616528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.220000	0.72140	0.528000	0.53228	ATC		0.299	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		6	89	0	0	0	1	0	6	89					T	186379534	A	T	186379534	3	4	79	1	0	0	0	0	1	0	0	0	2754	333	12	5	302	5	CCDC110	4	186379534	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39732	186379534	4774742	5868	16185											
CCDC110	256309	broad.mit.edu	37	chr4	186380209	186380210	+	Frame_Shift_Ins	INS	-	-	T													aacattatatttactaattaINStttttttaaattctttaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186380209_186380210insT	ENST00000307588.3	-	6	1606_1607	c.1531_1532insA	c.(1531-1533)atafs	p.I511fs	CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.I511fs|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.I474fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	511						nucleus (GO:0005634)		p.I511fs*3(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		tttactaattatttttttaaat	0.277																																						ENST00000307588.3																			1	Insertion - Frameshift(1)	p.I511fs*3(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1531-1533)aatfs		coiled-coil domain containing 110			,	5,4089		0,5,2042					,	5.8	0			23	2,8102		0,2,4050	no	frameshift,frameshift	CCDC110	NM_152775.3,NM_001145411.1	,	0,7,6092	A1A1,A1R,RR		0.0247,0.1221,0.0574	,	,		7,12191				SO:0001589	frameshift_variant	256309					nucleus		g.chr4:186380209_186380210insT	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1532dupA	4.37:g.186380216_186380216dupT	ENSP00000306776:p.Ile511fs					CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.N511fs|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.N474fs	p.N511fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1606_1607	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	511					Q86YI9|Q8N7W0	Frame_Shift_Ins	INS	ENST00000307588.3	37	c.1531_1532insA	CCDS3843.1																																																																																				0.277	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		12	104						12	104	---	---	---	---	T	186380210	-	T	186380209	7	5	79	1	0	1	1	0	0	0	0	0	2754	449	16	0	977	0	CCDC110	4	186380209	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	675	186380209	4774067	5869	16186											
PDLIM3	27295	broad.mit.edu	37	chr4	186423589	186423589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgcagtcggcacacacGaagcactcagggtgccggta	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423589G>A	ENST00000284770.5	-	8	1027	c.954C>T	c.(952-954)ttC>ttT	p.F318F	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.F270F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	318	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(952-954)ttC>ttT		PDZ and LIM domain 3							124	110	115					4																	186423589		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186423589G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.954C>T	4.37:g.186423589G>A						PDLIM3_ENST00000284771.6_Silent_p.F270F|PDLIM3_ENST00000284767.5_3'UTR	p.F318F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1027	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	318			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.954C>T	CCDS3844.1																																																																																				0.532	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		58	495	0	0	0	1	0	58	495					A	186423589	G	A	186423589	2	1	79	1	0	0	0	0	0	0	0	1	11723	1049	37	1		1	PDLIM3	4	186423589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43380	186423589	4730687	5870	16187											
PDLIM3	27295	broad.mit.edu	37	chr4	186423604	186423604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgaagcactcagggtgCcggtacttatcccgcgcctt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R265R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	313	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(937-939)cgG>cgA		PDZ and LIM domain 3							110	99	103					4																	186423604		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186423604C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.939G>A	4.37:g.186423604C>T						PDLIM3_ENST00000284771.6_Silent_p.R265R|PDLIM3_ENST00000284767.5_3'UTR	p.R313R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1012	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	313			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.939G>A	CCDS3844.1																																																																																				0.507	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		84	398	0	0	0	1	0	84	398					T	186423604	C	T	186423604	2	4	79	1	0	0	0	0	0	0	0	1	11723	726	26	2		2	PDLIM3	4	186423604	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	186423604	4730672	5871	16188											
PDLIM3	27295	broad.mit.edu	37	chr4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccccgcctgaaccgCcatggactttcgtcaccgga	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	283					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(847-849)gGc>gAc		PDZ and LIM domain 3							66	58	61					4																	186425686		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186425686C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.848G>A	4.37:g.186425686C>T	ENSP00000284770:p.Gly283Asp					PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D|PDLIM3_ENST00000284767.5_3'UTR	p.G283D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	921	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	283					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.848G>A	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712702	0.48517	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.36340	1.26;2.13	5.53	4.64	0.57946	.	0.243150	0.49305	D	0.000153	T	0.31670	0.0804	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.078	B;B	0.31751	0.135;0.082	T	0.16958	-1.0385	10	0.72032	D	0.01	-12.4155	13.0657	0.59032	0.0:0.6237:0.3763:0.0	.	235;283	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	283;235	ENSP00000284770:G283D;ENSP00000284771:G235D	ENSP00000284770:G283D	G	-	2	0	PDLIM3	186662680	0.799000	0.28903	0.028000	0.17463	0.008000	0.06430	4.880000	0.63107	2.770000	0.95276	0.655000	0.94253	GGC		0.532	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		30	157	0	0	0	1	0	30	157					T	186425686	C	T	186425686	3	4	79	1	0	0	0	0	1	0	0	0	11723	739	26	2	254	2	PDLIM3	4	186425686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	186425686	4728590	5872	16189											
PDLIM3	27295	broad.mit.edu	37	chr4	186425703	186425703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatggactttcgtcacCggagctctcacactccgcgt	9	17	2	0	rs61734674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425703C>T	ENST00000284770.5	-	7	904	c.831G>A	c.(829-831)ccG>ccA	p.P277P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P229P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	277					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTTTCGTCACCGGAGCTCTCA	0.542													C|||	33	0.00658946	0.0227	0.0043	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.0					ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(829-831)ccG>ccA		PDZ and LIM domain 3		C	,	135,4271	96.7+/-135.4	4,127,2072	65	57	60		687,831	-11.1	0.4	4	dbSNP_129	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PDLIM3	NM_001114107.3,NM_014476.4	,	4,128,6371	TT,TC,CC		0.0116,3.064,1.0457	,	229/317,277/365	186425703	136,12870	2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186425703C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.831G>A	4.37:g.186425703C>T						PDLIM3_ENST00000284771.6_Silent_p.P229P|PDLIM3_ENST00000284767.5_3'UTR	p.P277P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	904	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	277					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.831G>A	CCDS3844.1																																																																																				0.542	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		25	140	0	0	0	1	0	25	140					T	186425703	C	T	186425703	2	4	79	1	0	0	0	0	0	0	0	1	11723	639	23	1		1	PDLIM3	4	186425703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	186425703	4728573	5873	16190											
PDLIM3	27295	broad.mit.edu	37	chr4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgaagtctatgccccCtgagagcctgaagccccagg	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284770.5	-	1	128	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	19	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(55-57)Ggg>Tgg		PDZ and LIM domain 3							43	45	44					4																	186456534		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186456534C>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.55G>T	4.37:g.186456534C>A	ENSP00000284770:p.Gly19Trp					PDLIM3_ENST00000284770.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	p.G19W			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	1	122	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	19			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.55G>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833022	0.91036	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.34072	1.38;1.38;1.38	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.098086	0.64402	D	0.000001	T	0.72391	0.3454	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.80670	-0.1279	10	0.87932	D	0	-14.7514	19.1243	0.93376	0.0:1.0:0.0:0.0	.	19;19;19	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	W	19	ENSP00000284770:G19W;ENSP00000284771:G19W;ENSP00000284767:G19W	ENSP00000284767:G19W	G	-	1	0	PDLIM3	186693528	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	6.262000	0.72514	2.619000	0.88677	0.555000	0.69702	GGG		0.682	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		15	80	1	0	2.35188e-11	1	2.50879e-11	15	80					A	186456534	C	A	186456534	3	1	79	1	0	0	0	0	1	0	0	0	11723	681	24	3	1263	3	PDLIM3	4	186456534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30831	186456534	4697742	5874	16191											
SORBS2	8470	broad.mit.edu	37	chr4	186545525	186545525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaaactaatggctcttGgtgagtcccgagggacatcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	ENST00000284776.7	-	13	1555	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000431808.1_Missense_Mutation_p.P349L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	349					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGGCTCTTGGTGAGTCCCG	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1045-1047)cCa>cTa		sorbin and SH3 domain containing 2							72	73	73					4																	186545525		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545525G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1046C>T	4.37:g.186545525G>A	ENSP00000284776:p.Pro349Leu					SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P349L|SORBS2_ENST00000393528.3_Intron	p.P349L			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1609	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	349					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1046C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084326	0.07097	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.33654	1.5;1.5;1.4;1.5	5.87	-2.43	0.06522	.	0.719070	0.14393	N	0.322388	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B;B	0.20887	0.013;0.049;0.028	B;B;B	0.12837	0.006;0.008;0.008	T	0.13872	-1.0493	10	0.48119	T	0.1	-1.8135	6.9316	0.24444	0.1099:0.0964:0.6321:0.1616	.	253;449;349	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	349;349;253;449	ENSP00000284776:P349L;ENSP00000411764:P349L;ENSP00000397482:P253L;ENSP00000347852:P449L	ENSP00000284776:P349L	P	-	2	0	SORBS2	186782519	0.672000	0.27530	0.002000	0.10522	0.026000	0.11368	0.538000	0.23160	-0.343000	0.08351	-0.538000	0.04264	CCA		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		34	338	0	0	0	1	0	34	338					A	186545525	G	A	186545525	3	1	79	1	0	0	0	0	1	0	0	0	14978	1348	47	2	2292	2	SORBS2	4	186545525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88991	186545525	4608751	5875	16192											
TLR3	7098	broad.mit.edu	37	chr4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcagaagattaccagccGccaacttcacaaggtatagc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	69					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTACCAGCCGCCAACTTCAC	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(205-207)Gcc>Acc		toll-like receptor 3							129	126	127					4																	186997978		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997978G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.205G>A	4.37:g.186997978G>A	ENSP00000296795:p.Ala69Thr						p.A69T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	309	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	69					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.205G>A	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509490	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	0.42;-1.28	5.47	3.74	0.42951	.	0.523286	0.21012	N	0.081664	T	0.64136	0.2571	N	0.13098	0.295	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.53229	-0.8468	10	0.16420	T	0.52	.	11.372	0.49704	0.0664:0.0:0.8068:0.1268	.	69	O15455	TLR3_HUMAN	T	69	ENSP00000296795:A69T;ENSP00000423386:A69T	ENSP00000296795:A69T	A	+	1	0	TLR3	187234972	0.553000	0.26513	0.993000	0.49108	0.020000	0.10135	3.182000	0.50910	0.776000	0.33473	-0.188000	0.12872	GCC		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			89	332	0	0	0	1	0	89	332					A	186997978	G	A	186997978	3	1	79	1	0	0	0	0	1	0	0	0	16004	1087	38	1	207	1	TLR3	4	186997978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452453	186997978	4156298	5876	16193											
TLR3	7098	broad.mit.edu	37	chr4	187000170	187000170	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaaattagagttgtcatcGaatcaaattaaagaggtaag	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	206					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTGTCATCGAATCAAATTA	0.323																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(616-618)tcG>tcA		toll-like receptor 3							24	27	26					4																	187000170		2194	4292	6486	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187000170G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.618G>A	4.37:g.187000170G>A							p.S206S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	722	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	206					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.618G>A	CCDS3846.1																																																																																				0.323	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			24	106	0	0	0	1	0	24	106					A	187000170	G	A	187000170	2	1	79	1	0	0	0	0	0	0	0	1	16004	1045	37	1		1	TLR3	4	187000170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2192	187000170	4154106	5877	16194											
TLR3	7098	broad.mit.edu	37	chr4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccttaatgaaattgggcaaGaactcacaggccaggaatgg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000296795.3	+	4	1440	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	446					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E446*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423																																						ENST00000296795.2																			1	Substitution - Nonsense(1)	p.E446*(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1336-1338)Gaa>Taa		toll-like receptor 3							63	60	61					4																	187004176		2203	4300	6503	SO:0001587	stop_gained	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004176G>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1336G>T	4.37:g.187004176G>T	ENSP00000296795:p.Glu446*					TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	p.E446*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1440	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	446					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	37	c.1336G>T	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	.	0.508073	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6193	0.08089	0.2006:0.1151:0.5659:0.1184	.	.	.	.	X	446;446;169	.	ENSP00000296795:E446X	E	+	1	0	TLR3	187241170	0.361000	0.24972	0.991000	0.47740	0.946000	0.59487	1.072000	0.30678	0.766000	0.33244	0.557000	0.71058	GAA		0.423	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			51	283	1	0	2.87258e-10	1	3.04245e-10	51	283					T	187004176	G	T	187004176	4	4	79	1	0	0	0	0	0	1	0	0	16004	943	33	3	1346	3	TLR3	4	187004176	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4006	187004176	4150100	5878	16195											
FAM149A	25854	broad.mit.edu	37	chr4	187074871	187074871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcagcactcctgcctcCgcagtccacagacccccgct	9	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000356371.5	+	5	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	344										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTCCTGCCTCCGCAGTCCACA	0.507																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1030-1032)tcC>tcT		family with sequence similarity 149, member A							118	127	124					4																	187074871		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187074871C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1032C>T	4.37:g.187074871C>T						FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S	p.S344S			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	1032	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	344					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1032C>T																																																																																					0.507	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		197	776	0	0	0	1	0	197	776					T	187074871	C	T	187074871	2	4	79	1	0	0	0	0	0	0	0	1	5476	639	23	1		1	FAM149A	4	187074871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70695	187074871	4079405	5879	16196											
FAM149A	25854	broad.mit.edu	37	chr4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaagtgtttgatcacGtctggacaaatatggtagaa	11	6	2	3	rs201494456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463																																						ENST00000356371.5																			1	Substitution - Missense(1)	p.V170I(1)	lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1381-1383)Gtc>Atc		family with sequence similarity 149, member A		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	120	112	114		508,508	2.8	0.3	4		114	0,8600		0,0,4300	yes	missense,missense	FAM149A	NM_015398.2,NM_001006655.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	170/483,170/483	187077278	1,13005	2203	4300	6503	SO:0001583	missense	25854							g.chr4:187077278G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1381G>A	4.37:g.187077278G>A	ENSP00000348732:p.Val461Ile					FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I	p.V461I			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	7	1381	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	461					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1381G>A		.	.	.	.	.	.	.	.	.	.	G	6.974	0.549723	0.13374	2.27E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.16196	2.42;2.36;2.42;2.42;2.42;2.42	5.46	2.83	0.33086	.	0.777035	0.12119	N	0.497815	T	0.15522	0.0374	M	0.61703	1.905	0.09310	N	1	P;B;B	0.37500	0.597;0.339;0.304	B;B;B	0.26094	0.066;0.018;0.012	T	0.09335	-1.0679	10	0.36615	T	0.2	-12.3057	9.8554	0.41082	0.2838:0.0:0.7162:0.0	.	461;461;170	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	170;461;170;170;170;170	ENSP00000426835:V170I;ENSP00000348732:V461I;ENSP00000227065:V170I;ENSP00000427155:V170I;ENSP00000424380:V170I;ENSP00000374005:V170I	ENSP00000227065:V170I	V	+	1	0	FAM149A	187314272	0.036000	0.19791	0.305000	0.25099	0.089000	0.18198	0.262000	0.18460	0.445000	0.26639	0.650000	0.86243	GTC		0.463	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		76	516	0	0	0	1	0	76	516					A	187077278	G	A	187077278	3	1	79	1	0	0	0	0	1	0	0	0	5476	1145	40	1	522	1	FAM149A	4	187077278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	187077278	4076998	5880	16197											
FAM149A	25854	broad.mit.edu	37	chr4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctggaaacagatttcCgcacgtcctcgttccacacg	10	13	0	1	rs548671208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000356371.5	+	8	1496	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	499										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AACAGATTTCCGCACGTCCTC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.001					ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1495-1497)cCg>cTg		family with sequence similarity 149, member A							72	81	78					4																	187078767		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187078767C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1496C>T	4.37:g.187078767C>T	ENSP00000348732:p.Pro499Leu					FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L	p.P499L			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	8	1496	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	499					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1496C>T		.	.	.	.	.	.	.	.	.	.	C	10.45	1.353175	0.24512	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13307	2.63;2.6;2.63;2.63;2.63;2.63	4.77	2.07	0.26955	.	0.475510	0.22929	N	0.053939	T	0.10165	0.0249	L	0.48362	1.52	0.09310	N	1	B;B;B	0.28850	0.054;0.032;0.225	B;B;B	0.17722	0.011;0.006;0.019	T	0.21449	-1.0245	10	0.51188	T	0.08	-2.3135	5.3957	0.16268	0.1608:0.6666:0.0:0.1725	.	499;499;208	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	208;499;208;208;208;208	ENSP00000426835:P208L;ENSP00000348732:P499L;ENSP00000227065:P208L;ENSP00000427155:P208L;ENSP00000424380:P208L;ENSP00000374005:P208L	ENSP00000227065:P208L	P	+	2	0	FAM149A	187315761	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.326000	0.23384	-0.272000	0.10252	CCG		0.512	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		53	313	0	0	0	1	0	53	313					T	187078767	C	T	187078767	3	4	79	1	0	0	0	0	1	0	0	0	5476	652	23	1	641	1	FAM149A	4	187078767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1489	187078767	4075509	5881	16198											
FAM149A	25854	broad.mit.edu	37	chr4	187084635	187084635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctctcctccgcaccGcacagactgggacgggcctc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000356371.5	+	10	1764	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTCCGCACCGCACAGACTGG	0.557																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1762-1764)ccG>ccA		family with sequence similarity 149, member A							82	78	80					4																	187084635		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187084635G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1764G>A	4.37:g.187084635G>A						FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P	p.P588P			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	10	1764	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	588					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1764G>A																																																																																					0.557	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		39	302	0	0	0	1	0	39	302					A	187084635	G	A	187084635	2	1	79	1	0	0	0	0	0	0	0	1	5476	1074	38	1		1	FAM149A	4	187084635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5868	187084635	4069641	5882	16199											
FAM149A	25854	broad.mit.edu	37	chr4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatttttcttccagcagtCggatacgcctcgaaaaagtt	7	9	1	0	rs201664528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000356371.5	+	13	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	724										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTCCAGCAGTCGGATACGCCT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0					ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(2170-2172)tCg>tTg		family with sequence similarity 149, member A							108	109	109					4																	187088339		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187088339C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2171C>T	4.37:g.187088339C>T	ENSP00000348732:p.Ser724Leu					FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L	p.S724L			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	13	2171	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	724					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.2171C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.648|8.648	0.897607|0.897607	0.17686|0.17686	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.14391	.|2.56;2.51;2.56;2.56;2.56;2.56	5.62|5.62	-0.166|-0.166	0.13351|0.13351	.|.	.|0.864286	.|0.10118	.|N	.|0.713851	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.41824|0.41824	1.3|1.3	0.20403|0.20403	N|N	0.999901|0.999901	.|B;B	.|0.17667	.|0.023;0.017	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.0171|-0.0171	12.6812|12.6812	0.56922|0.56922	0.0:0.6903:0.0:0.3097|0.0:0.6903:0.0:0.3097	.|.	.|723;724	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	W|L	111|433;724;433;433;433;433	.|ENSP00000426835:S433L;ENSP00000348732:S724L;ENSP00000227065:S433L;ENSP00000427155:S433L;ENSP00000424380:S433L;ENSP00000374005:S433L	.|ENSP00000227065:S433L	R|S	+|+	1|2	2|0	FAM149A|FAM149A	187325333|187325333	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.223000|-0.223000	0.09177|0.09177	-0.404000|-0.404000	0.07610|0.07610	-2.368000|-2.368000	0.00236|0.00236	CGG|TCG		0.378	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		135	452	0	0	0	1	0	135	452					T	187088339	C	T	187088339	3	4	79	1	0	0	0	0	1	0	0	0	5476	893	31	1	1336	1	FAM149A	4	187088339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3704	187088339	4065937	5883	16200											
CYP4V2	285440	broad.mit.edu	37	chr4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagaatgcacaagggcGccatccatatgcctacgtgc	10	15	0	1	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACAAGGGCGCCATCCATAT	0.542																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1354-1356)cGc>cAc		cytochrome P450, family 4, subfamily V, polypeptide 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	105	109		1355	5.4	1	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP4V2	NM_207352.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	452/526	187130376	3,13003	2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130376G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1355G>A	4.37:g.187130376G>A	ENSP00000368079:p.Arg452His					CYP4V2_ENST00000502665.1_3'UTR	p.R452H	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	10	1659	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	452					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1355G>A	CCDS34119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899179|4.899179	0.91962|0.91962	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000164344|ENSG00000145476	ENST00000511608|ENST00000378802;ENST00000274118	.|T	.|0.70869	.|-0.52	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.053681	.|0.64402	.|D	.|0.000001	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88965|0.88965	0.3396|0.3396	5|10	.|0.87932	.|D	.|0	.|.	19.34|19.34	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452	.|Q6ZWL3	.|CP4V2_HUMAN	T|H	51|452;430	.|ENSP00000368079:R452H	.|ENSP00000274118:R430H	A|R	+|+	1|2	0|0	KLKB1|CYP4V2	187367370|187367370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	8.847000|8.847000	0.92166|0.92166	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.542	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		49	488	0	0	0	1	0	49	488					A	187130376	G	A	187130376	3	1	79	1	0	0	0	0	1	0	0	0	4203	1087	38	1	1393	1	CYP4V2	4	187130376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42037	187130376	4023900	5884	16201											
KLKB1	3818	broad.mit.edu	37	chr4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaatgccagaaaagatatCaagattataaaataacccaa	5	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	553	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAAAAGATATCAAGATTATAA	0.343																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1657-1659)Caa>Taa		kallikrein B, plasma (Fletcher factor) 1							84	97	93					4																	187178451		2201	4298	6499	SO:0001587	stop_gained	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178451C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1657C>T	4.37:g.187178451C>T	ENSP00000264690:p.Gln553*					KLKB1_ENST00000513864.1_Intron	p.Q553*	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1844	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	553			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonsense_Mutation	SNP	ENST00000264690.6	37	c.1657C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000164344	ENST00000264690	.	.	.	5.97	-5.56	0.02529	.	0.771417	0.12142	N	0.495758	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4025	0.21646	0.1991:0.5394:0.1817:0.0798	.	.	.	.	X	553	.	ENSP00000264690:Q553X	Q	+	1	0	KLKB1	187415445	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	0.460000	0.21924	-0.347000	0.08299	-1.112000	0.02068	CAA		0.343	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		76	334	0	0	0	1	0	76	334					T	187178451	C	T	187178451	4	4	79	1	0	0	0	0	0	1	0	0	8442	827	29	2	1707	2	KLKB1	4	187178451	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48075	187178451	3975825	5885	16202											
MTNR1A	4543	broad.mit.edu	37	chr4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccacgtcgttagagctgtCcacaaagaacaccctggctg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	322					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(964-966)Gac>Aac		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						139	136	137					4																	187454932		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187454932C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.964G>A	4.37:g.187454932C>T	ENSP00000302811:p.Asp322Asn					RP11-215A19.2_ENST00000509111.1_Intron	p.D322N	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	1165	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	322					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.964G>A	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536802	0.27475	.	.	ENSG00000168412	ENST00000307161	T	0.71817	-0.6	4.66	3.7	0.42460	.	0.265700	0.42172	D	0.000753	T	0.67832	0.2935	M	0.63428	1.95	0.40875	D	0.983943	B	0.15141	0.012	B	0.14023	0.01	T	0.65845	-0.6069	10	0.41790	T	0.15	-3.7703	14.9647	0.71182	0.0:0.8057:0.1943:0.0	.	322	P48039	MTR1A_HUMAN	N	322	ENSP00000302811:D322N	ENSP00000302811:D322N	D	-	1	0	MTNR1A	187691926	1.000000	0.71417	0.937000	0.37676	0.114000	0.19823	4.341000	0.59335	0.990000	0.38787	0.655000	0.94253	GAC		0.448	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			137	520	0	0	0	1	0	137	520					T	187454932	C	T	187454932	3	4	79	1	0	0	0	0	1	0	0	0	9992	855	30	2	92	2	MTNR1A	4	187454932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276481	187454932	3699344	5886	16203											
FAT1	2195	broad.mit.edu	37	chr4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggcagaatcttcctcCtccatctgtggccctgacga	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3103	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTTCCTCCTCCATCTGTG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9307-9309)Gga>Tga		FAT atypical cadherin 1							89	95	93					4																	187534419		2040	4183	6223	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187534419C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9307G>T	4.37:g.187534419C>A	ENSP00000406229:p.Gly3103*	HNSCC(5;0.00058)					p.G3103*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			13	9516	-			3103			Cadherin 28.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.9307G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	50	16.944003	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	.	0.051105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	.	.	.	X	3103;3105	.	ENSP00000260147:G3105X	G	-	1	0	FAT1	187771413	1.000000	0.71417	0.984000	0.44739	0.031000	0.12232	7.638000	0.83328	2.712000	0.92718	0.609000	0.83330	GGA		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		67	266	1	0	7.59065e-32	1	8.94676e-32	67	266					A	187534419	C	A	187534419	4	1	79	1	0	0	0	0	0	1	0	0	5714	690	24	3	4519	3	FAT1	4	187534419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79487	187534419	3619857	5887	16204											
FAT1	2195	broad.mit.edu	37	chr4	187535439	187535439	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctgcgtctgtagcagaGatctgcatgatcaattttcc	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3045	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTAGCAGAGATCTGCATGA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9133-9135)atC>atA		FAT atypical cadherin 1							148	140	142					4																	187535439		1883	4106	5989	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535439G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9135C>A	4.37:g.187535439G>T		HNSCC(5;0.00058)					p.I3045I	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			12	9344	-			3045			Cadherin 28.			Silent	SNP	ENST00000441802.2	37	c.9135C>A	CCDS47177.1																																																																																				0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		84	317	1	0	4.41824e-40	1	5.35239e-40	84	317					T	187535439	G	T	187535439	2	4	79	1	0	0	0	0	0	0	0	1	5714	932	33	3		3	FAT1	4	187535439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1020	187535439	3618837	5888	16205											
FAT1	2195	broad.mit.edu	37	chr4	187538356	187538356	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctaaaggatcccctcCtattaaatcaatggaggaag	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.e11-1		FAT atypical cadherin 1							78	70	72					4																	187538356		1792	4069	5861	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538356C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8879-1G>T	4.37:g.187538356C>A		HNSCC(5;0.00058)						NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			11	9088	-									Splice_Site	SNP	ENST00000441802.2	37		CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533090	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4566	0.87609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187775350	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.574000	0.82434	2.427000	0.82271	0.557000	0.71058	.		0.313	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	19	121	1	0	1.56452e-12	1	1.68123e-12	19	121					A	187538356	C	A	187538356	5	1	79	1	0	0	0	0	0	0	1	0	5714	695	24	3	4956	3	FAT1	4	187538356	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2917	187538356	3615920	5889	16206											
FAT1	2195	broad.mit.edu	37	chr4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaaagttgtaatccagCctgtttccatgttaatggca	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2867	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTAATCCAGCCTGTTTCCAT	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8599-8601)gGc>gAc		FAT atypical cadherin 1							161	143	149					4																	187539140		1938	4159	6097	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539140C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8600G>A	4.37:g.187539140C>T	ENSP00000406229:p.Gly2867Asp	HNSCC(5;0.00058)					p.G2867D	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8809	-			2867			Cadherin 26.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8600G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181797	0.78677	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57273	0.41	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87138	0.2201	10	0.87932	D	0	.	18.5503	0.91062	0.0:1.0:0.0:0.0	.	2867	Q14517	FAT1_HUMAN	D	2867;2869	ENSP00000406229:G2867D	ENSP00000260147:G2869D	G	-	2	0	FAT1	187776134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.682000	0.91365	0.650000	0.86243	GGC		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		53	218	0	0	0	1	0	53	218					T	187539140	C	T	187539140	3	4	79	1	0	0	0	0	1	0	0	0	5714	739	26	2	5238	2	FAT1	4	187539140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	784	187539140	3615136	5890	16207											
FAT1	2195	broad.mit.edu	37	chr4	187539828	187539828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcttttacactttcagagtCtgcttcaatggcataggtga	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539828C>A	ENST00000441802.2	-	10	8121	c.7912G>T	c.(7912-7914)Gac>Tac	p.D2638Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2638	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTCAGAGTCTGCTTCAATG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7912-7914)Gac>Tac		FAT atypical cadherin 1							56	52	53					4																	187539828		1903	4125	6028	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539828C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7912G>T	4.37:g.187539828C>A	ENSP00000406229:p.Asp2638Tyr	HNSCC(5;0.00058)					p.D2638Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8121	-			2638			Cadherin 24.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7912G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325419	0.60743	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53857	0.6	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.198717	0.52532	D	0.000070	T	0.66742	0.2820	L	0.60845	1.875	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.67086	-0.5759	10	0.59425	D	0.04	.	14.8514	0.70300	0.0:0.8568:0.1432:0.0	.	2638	Q14517	FAT1_HUMAN	Y	2638;2640	ENSP00000406229:D2638Y	ENSP00000260147:D2640Y	D	-	1	0	FAT1	187776822	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.848000	0.69458	2.861000	0.98227	0.655000	0.94253	GAC		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	173	1	0	0.0293803	1	0.0294705	6	173					A	187539828	C	A	187539828	3	1	79	1	0	0	0	0	1	0	0	0	5714	913	32	3	5926	3	FAT1	4	187539828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	187539828	3614448	5891	16208											
FAT1	2195	broad.mit.edu	37	chr4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggtggaacttctaaaaactCcatcagacactgacaggtta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2470	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTAAAAACTCCATCAGACAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7408-7410)gGa>gTa		FAT atypical cadherin 1							201	199	199					4																	187540331		1956	4144	6100	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540331C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7409G>T	4.37:g.187540331C>A	ENSP00000406229:p.Gly2470Val	HNSCC(5;0.00058)					p.G2470V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7618	-			2470			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7409G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532735	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04502	3.61	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58482	-0.7629	10	0.72032	D	0.01	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	2470	Q14517	FAT1_HUMAN	V	2470;2472	ENSP00000406229:G2470V	ENSP00000260147:G2472V	G	-	2	0	FAT1	187777325	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.609000	0.82925	2.810000	0.96702	0.650000	0.86243	GGA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		70	901	1	0	1.46168e-27	1	1.69373e-27	70	901					A	187540331	C	A	187540331	3	1	79	1	0	0	0	0	1	0	0	0	5714	855	30	3	6429	3	FAT1	4	187540331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	187540331	3613945	5892	16209											
FAT1	2195	broad.mit.edu	37	chr4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgagagggtgataatccCtgttgcactgtcaatgacaa	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAATCCCTGTTGCACTG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7333-7335)Ggg>Tgg		FAT atypical cadherin 1							148	154	152					4																	187540407		2059	4199	6258	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540407C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7333G>T	4.37:g.187540407C>A	ENSP00000406229:p.Gly2445Trp	HNSCC(5;0.00058)					p.G2445W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7542	-			2445			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7333G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683930	0.47991	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04654	3.58	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	2445	Q14517	FAT1_HUMAN	W	2445;2447	ENSP00000406229:G2445W	ENSP00000260147:G2447W	G	-	1	0	FAT1	187777401	1.000000	0.71417	0.640000	0.29408	0.113000	0.19764	7.609000	0.82925	2.890000	0.99128	0.650000	0.86243	GGG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		61	601	1	0	3.40343e-31	1	4.00304e-31	61	601					A	187540407	C	A	187540407	3	1	79	1	0	0	0	0	1	0	0	0	5714	681	24	3	6505	3	FAT1	4	187540407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	187540407	3613869	5893	16210											
FAT1	2195	broad.mit.edu	37	chr4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgccgggactgctcgtaatCcagggttctgagtagtgaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2349	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTCGTAATCCAGGGTTCTG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7045-7047)Gat>Tat		FAT atypical cadherin 1							146	149	148					4																	187540695		2126	4237	6363	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540695C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7045G>T	4.37:g.187540695C>A	ENSP00000406229:p.Asp2349Tyr	HNSCC(5;0.00058)					p.D2349Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7254	-			2349			Cadherin 21.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7045G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803103	0.50315	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04275	3.66	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64909	-0.6296	10	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	2349	Q14517	FAT1_HUMAN	Y	2349;2351	ENSP00000406229:D2349Y	ENSP00000260147:D2351Y	D	-	1	0	FAT1	187777689	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	GAT		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		47	589	1	0	8.72198e-27	1	1.00714e-26	47	589					A	187540695	C	A	187540695	3	1	79	1	0	0	0	0	1	0	0	0	5714	855	30	3	6793	3	FAT1	4	187540695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288	187540695	3613581	5894	16211											
FAT1	2195	broad.mit.edu	37	chr4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgtggtccagaaggCtgtatctcacctgaccagac	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	965	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCAGAAGGCTGTATCTCAC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2893-2895)aGc>aAc		FAT atypical cadherin 1							184	175	178					4																	187628088		1923	4149	6072	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628088C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2894G>A	4.37:g.187628088C>T	ENSP00000406229:p.Ser965Asn	HNSCC(5;0.00058)					p.S965N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3103	-			965			Cadherin 8.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2894G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165248	0.21538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54866	0.55	4.67	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041576	0.85682	D	0.000000	T	0.58524	0.2128	M	0.67397	2.05	0.58432	D	0.999997	P	0.41159	0.74	P	0.46339	0.513	T	0.61441	-0.7062	10	0.42905	T	0.14	.	14.7591	0.69593	0.0:0.8416:0.1583:0.0	.	965	Q14517	FAT1_HUMAN	N	965	ENSP00000406229:S965N	ENSP00000260147:S965N	S	-	2	0	FAT1	187865082	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	4.708000	0.61859	1.285000	0.44548	0.491000	0.48974	AGC		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		74	728	0	0	0	1	0	74	728					T	187628088	C	T	187628088	3	4	79	1	0	0	0	0	1	0	0	0	5714	797	28	2	10976	2	FAT1	4	187628088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87393	187628088	3526188	5895	16212											
FAT1	2195	broad.mit.edu	37	chr4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatagcaaacatatctgttCgatctttaaaactgtagtaa	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATATCTGTTCGATCTTTAAA	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(571-573)cGa>cAa		FAT atypical cadherin 1							117	118	118					4																	187630410		2109	4247	6356	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630410C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.572G>A	4.37:g.187630410C>T	ENSP00000406229:p.Arg191Gln	HNSCC(5;0.00058)					p.R191Q	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	781	-			191			Cadherin 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.572G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388905	0.82902	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60299	0.2;0.2	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.123299	0.56097	D	0.000030	T	0.54902	0.1887	N	0.19112	0.55	0.47476	D	0.999434	D	0.59767	0.986	P	0.54590	0.756	T	0.46247	-0.9205	10	0.14252	T	0.57	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	191	Q14517	FAT1_HUMAN	Q	191	ENSP00000406229:R191Q;ENSP00000423736:R191Q	ENSP00000260147:R191Q	R	-	2	0	FAT1	187867404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.909000	0.56363	2.704000	0.92352	0.591000	0.81541	CGA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		61	459	0	0	0	1	0	61	459					T	187630410	C	T	187630410	3	4	79	1	0	0	0	0	1	0	0	0	5714	884	31	1	13298	1	FAT1	4	187630410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322	187630410	3523866	5896	16213											
ZFP42	132625	broad.mit.edu	37	chr4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaagggtgcggaaagcGcttctctctggactttaatt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(763-765)cGc>cAc		ZFP42 zinc finger protein							82	83	83					4																	188924725		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924725G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	4.37:g.188924725G>A	ENSP00000317686:p.Arg255His					ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1172	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	255					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.764G>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC		0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		60	188	0	0	0	1	0	60	188					A	188924725	G	A	188924725	3	1	79	1	0	0	0	0	1	0	0	0	17703	1087	38	1	766	1	ZFP42	4	188924725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294315	188924725	2229551	5897	16214											
TRIML2	205860	broad.mit.edu	37	chr4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtaaatgagggacatctCggtcacattgtagaatgata	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGGACATCTCGGTCACATTG	0.493																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(1012-1014)Gag>Aag		tripartite motif family-like 2							158	166	163					4																	189012679		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012679C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1012G>A	4.37:g.189012679C>T	ENSP00000422581:p.Glu338Lys					TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	p.E338K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1386	-		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	338			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1012G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519012	0.13005	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61040	0.14;0.14	5.85	-0.853	0.10709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.063480	0.07343	N	0.881033	T	0.30759	0.0775	N	0.10972	0.075	0.09310	N	1	B;P	0.34724	0.268;0.465	B;B	0.21151	0.033;0.033	T	0.10917	-1.0609	10	0.39692	T	0.17	.	7.1236	0.25458	0.0:0.5251:0.232:0.2429	.	363;338	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	338;363	ENSP00000422581:E338K;ENSP00000317498:E363K	ENSP00000317498:E363K	E	-	1	0	TRIML2	189249673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.136000	0.11475	-0.176000	0.13171	GAG		0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		120	452	0	0	0	1	0	120	452					T	189012679	C	T	189012679	3	4	79	1	0	0	0	0	1	0	0	0	16604	893	31	1	155	1	TRIML2	4	189012679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87954	189012679	2141597	5898	16215											
TRIML1	339976	broad.mit.edu	37	chr4	189067986	189067986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgcagcggagataacGctggacccagccacagctaa	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	289	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		CGGAGATAACGCTGGACCCAG	0.473																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				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						c.(865-867)acG>acA		tripartite motif family-like 1							142	145	144					4																	189067986		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189067986G>A	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.867G>A	4.37:g.189067986G>A						TRIML1_ENST00000507581.1_3'UTR	p.T289T	NM_178556.3	NP_848651.2	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)	6	1007	+		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)	289			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.867G>A	CCDS3851.1																																																																																				0.473	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		98	869	0	0	0	1	0	98	869					A	189067986	G	A	189067986	2	1	79	1	0	0	0	0	0	0	0	1	16603	1074	38	1		1	TRIML1	4	189067986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55307	189067986	2086290	5899	16216											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140602	140602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccccaagtctagagaaGgagaggcacacacccagccg	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	ENST00000283426.6	+	1	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	60							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTAGAGAAGGAGAGGCACA	0.662																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(178-180)aaG>aaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							16	20	19					5																	140602		2164	4273	6437	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140602G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.180G>T	5.37:g.140602G>T	ENSP00000283426:p.Lys60Asn						p.K60N	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	230	+			60						Missense_Mutation	SNP	ENST00000283426.6	37	c.180G>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	9.374	1.071343	0.20147	.	.	ENSG00000153404	ENST00000283426	T	0.25250	1.81	2.04	2.04	0.26737	.	.	.	.	.	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.13602	-1.0503	9	0.05525	T	0.97	.	7.3479	0.26674	0.0:0.0:1.0:0.0	.	60	Q96PX9	PKH4B_HUMAN	N	60	ENSP00000283426:K60N	ENSP00000283426:K60N	K	+	3	2	PLEKHG4B	193602	0.040000	0.19996	0.069000	0.20011	0.158000	0.22134	-0.328000	0.07945	0.613000	0.30089	0.298000	0.19748	AAG		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		5	54	1	0	0.000602214	1	0.000609647	5	54					T	140602	G	T	140602	3	4	79	1	0	0	0	0	1	0	0	0	12114	991	35	3	182	3	PLEKHG4B	5	140602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		140602	180774658	5900	16217											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182382	182382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagagacgggcacccagGctgcagtgtgtgagggggct	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1254							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCACCCAGGCTGCAGTGTG	0.622																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3760-3762)Gct>Act		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							21	22	22					5																	182382		2203	4299	6502	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182382G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3760G>A	5.37:g.182382G>A	ENSP00000283426:p.Ala1254Thr						p.A1254T	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3810	+			1254						Missense_Mutation	SNP	ENST00000283426.6	37	c.3760G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997387	0.35226	.	.	ENSG00000153404	ENST00000283426	T	0.30448	1.53	3.55	1.64	0.23874	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26396	N	0.976497	P	0.43477	0.808	B	0.30179	0.112	T	0.06625	-1.0816	9	0.72032	D	0.01	.	9.5746	0.39450	0.0:0.6027:0.3972:0.0	.	1254	Q96PX9	PKH4B_HUMAN	T	1254	ENSP00000283426:A1254T	ENSP00000283426:A1254T	A	+	1	0	PLEKHG4B	235382	1.000000	0.71417	0.112000	0.21494	0.010000	0.07245	2.491000	0.45303	0.020000	0.15106	-0.499000	0.04595	GCT		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		32	126	0	0	0	1	0	32	126					A	182382	G	A	182382	3	1	79	1	0	0	0	0	1	0	0	0	12114	1203	42	2	3830	2	PLEKHG4B	5	182382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41780	182382	180732878	5901	16218											
LRRC14B	389257	broad.mit.edu	37	chr5	194943	194943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctggacctcagtggAcacaacctggtcagcctgta	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	ENST00000328278.3	+	2	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	340										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACCTCAGTGGACACAACCTGG	0.617																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1018-1020)ggA>ggG		leucine rich repeat containing 14B							33	37	36					5																	194943		2133	4246	6379	SO:0001819	synonymous_variant	389257							g.chr5:194943A>G		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1020A>G	5.37:g.194943A>G							p.G340G	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1048	+			340						Silent	SNP	ENST00000328278.3	37	c.1020A>G	CCDS47184.1																																																																																				0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		13	67	0	0	0	1	0	13	67					G	194943	A	G	194943	2	3	79	1	0	0	0	0	0	0	0	1	9007	262	10	4		4	LRRC14B	5	194943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12561	194943	180720317	5902	16219											
LRRC14B	389257	broad.mit.edu	37	chr5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtccaagttcaaccagCagaaatacgacgagatcgcc	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1345-1347)Cag>Tag		leucine rich repeat containing 14B							105	118	113					5																	195268		2155	4267	6422	SO:0001587	stop_gained	389257							g.chr5:195268C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1345C>T	5.37:g.195268C>T	ENSP00000327675:p.Gln449*						p.Q449*	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1373	+			449						Nonsense_Mutation	SNP	ENST00000328278.3	37	c.1345C>T	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567915	0.96540	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.41	4.52	0.55395	.	0.268654	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4499	0.55671	0.0:0.6762:0.3238:0.0	.	.	.	.	X	449	.	ENSP00000327675:Q449X	Q	+	1	0	LRRC14B	248268	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.016000	0.40971	1.259000	0.44117	0.561000	0.74099	CAG		0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		177	676	0	0	0	1	0	177	676					T	195268	C	T	195268	4	4	79	1	0	0	0	0	0	1	0	0	9007	711	25	2	1351	2	LRRC14B	5	195268	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325	195268	180719992	5903	16220											
SDHA	6389	broad.mit.edu	37	chr5	235284	235284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccctgagaaagatcacGtctacctgcagctgcaccac	10	14	2	2	rs372738835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	364					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1090-1092)Gtc>Atc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	G	ILE/VAL	0,4406		0,0,2203	59	53	55		1090	5.1	1	5		55	1,8595		0,1,4297	no	missense	SDHA	NM_004168.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	364/665	235284	1,13001	2203	4298	6501	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:235284G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1090G>A	5.37:g.235284G>A	ENSP00000264932:p.Val364Ile					SDHA_ENST00000510361.1_Missense_Mutation_p.V316I|SDHA_ENST00000504309.1_Missense_Mutation_p.V364I	p.V364I	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		9	1205	+			364					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1090G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.347429	0.24426	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71698	-0.59;-0.59;-0.59	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.53449	0.1797	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.26602	0.154;0.05;0.002;0.001;0.001	B;B;B;B;B	0.27500	0.08;0.04;0.013;0.009;0.009	T	0.51888	-0.8648	10	0.02654	T	1	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	316;364;364;364;370	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	I	364;219;364;316	ENSP00000264932:V364I;ENSP00000426514:V364I;ENSP00000427703:V316I	ENSP00000264932:V364I	V	+	1	0	SDHA	288284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.024000	0.93689	2.541000	0.85698	0.557000	0.71058	GTC		0.567	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		30	272	0	0	0	1	0	30	272					A	235284	G	A	235284	3	1	79	1	0	0	0	0	1	0	0	0	14013	1145	40	1	1124	1	SDHA	5	235284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40016	235284	180679976	5904	16221											
SDHA	6389	broad.mit.edu	37	chr5	251561	251561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaggagtcacggggcgCgcatgccagggaagactaca	16	10	1	1	rs367621815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	591				A -> T (in Ref. 3; AAD51006). {ECO:0000305}.	cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1771-1773)gCg>gTg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	T	VAL/ALA	0,4406		0,0,2203	47	53	51		1772	3.8	0	5		51	1,8599		0,1,4299	no	missense	SDHA	NM_004168.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	591/665	251561	1,13005	2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:251561C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1772C>T	5.37:g.251561C>T	ENSP00000264932:p.Ala591Val					SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron	p.A591V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		13	1887	+			591	A -> T (in Ref. 3; AAD51006).				A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1772C>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.058988	0.36373	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	D;D;D	0.85258	-1.96;-1.96;-1.96	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.145674	0.45606	U	0.000356	D	0.93301	0.7865	M	0.92691	3.335	0.80722	D	1	D;P;D;P	0.89917	1.0;0.912;0.998;0.825	D;B;P;B	0.71656	0.974;0.321;0.845;0.207	D	0.94746	0.7923	10	0.87932	D	0	.	13.5022	0.61462	0.0:1.0:0.0:0.0	.	543;591;185;591	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	V	591;446;543;37	ENSP00000264932:A591V;ENSP00000427703:A543V;ENSP00000421911:A37V	ENSP00000264932:A591V	A	+	2	0	SDHA	304561	1.000000	0.71417	0.018000	0.16275	0.025000	0.11179	5.353000	0.66034	1.853000	0.53794	0.305000	0.20034	GCG		0.627	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		47	188	0	0	0	1	0	47	188					T	251561	C	T	251561	3	4	79	1	0	0	0	0	1	0	0	0	14013	768	27	1	1822	1	SDHA	5	251561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16277	251561	180663699	5905	16222											
AHRR	57491	broad.mit.edu	37	chr5	427974	427974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggacagaagaagaaggCgccgtcaggagccatgctcc	14	10	1	3	rs373499533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000505113.1	+	8	817	c.773C>T	c.(772-774)gCg>gTg	p.A258V	AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000316418.5_Missense_Mutation_p.A276V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	258					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(826-828)gCg>gTg		aryl-hydrocarbon receptor repressor			VAL/ALA,VAL/ALA	1,3741		0,1,1870	27	31	29		773,827	4.9	0.8	5		29	0,8202		0,0,4101	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,1,5971	TT,TC,CC		0.0,0.0267,0.0084	possibly-damaging,possibly-damaging	258/702,276/720	427974	1,11943	1871	4101	5972	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427974C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.773C>T	5.37:g.427974C>T	ENSP00000424601:p.Ala258Val					AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000505113.1_Missense_Mutation_p.A258V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V	p.A276V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	871	+			258					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.827C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.168850	0.57584	2.67E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23950	2.2;2.2;1.88;1.88	4.88	4.88	0.63580	.	0.471757	0.24341	N	0.039375	T	0.40694	0.1127	M	0.64170	1.965	0.29623	N	0.846065	D;B;P	0.64830	0.994;0.443;0.884	P;B;B	0.53649	0.731;0.085;0.165	T	0.40079	-0.9582	10	0.59425	D	0.04	.	15.5229	0.75877	0.0:1.0:0.0:0.0	.	114;258;276	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	258;276;104;114	ENSP00000424601:A258V;ENSP00000323816:A276V;ENSP00000424880:A104V;ENSP00000426932:A114V	ENSP00000323816:A276V	A	+	2	0	AHRR	480974	1.000000	0.71417	0.790000	0.31976	0.452000	0.32318	5.258000	0.65479	2.244000	0.73946	0.580000	0.79431	GCG		0.562	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		50	230	0	0	0	1	0	50	230					T	427974	C	T	427974	3	4	79	1	0	0	0	0	1	0	0	0	417	768	27	1	861	1	AHRR	5	427974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176413	427974	180487286	5906	16223											
AHRR	57491	broad.mit.edu	37	chr5	434085	434085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaagcacagtgaggaTggtgccaggccgaggctgca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000505113.1	+	11	1286	c.1242T>C	c.(1240-1242)gaT>gaC	p.D414D	AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000316418.5_Silent_p.D432D	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	414					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1294-1296)gaT>gaC		aryl-hydrocarbon receptor repressor							36	48	44					5																	434085		2165	4239	6404	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434085T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1242T>C	5.37:g.434085T>C						AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000505113.1_Silent_p.D414D|AHRR_ENST00000512529.1_Silent_p.D260D	p.D432D	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1340	+			414					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1296T>C	CCDS56355.1																																																																																				0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		38	163	0	0	0	1	0	38	163					C	434085	T	C	434085	2	2	79	1	0	0	0	0	0	0	0	1	417	1461	51	4		4	AHRR	5	434085	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6111	434085	180481175	5907	16224											
EXOC3	11336	broad.mit.edu	37	chr5	446344	446344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagacagaccgggaggcCgttgcgacagcagtgcaaag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000512944.1	+	2	213	c.24C>T	c.(22-24)gcC>gcT	p.A8A	EXOC3_ENST00000315013.5_Silent_p.A8A|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	19					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(22-24)gcC>gcT		exocyst complex component 3							82	85	84					5																	446344		2011	4172	6183	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:446344C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.24C>T	5.37:g.446344C>T						EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Silent_p.A8A	p.A8A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		2	213	+		Ovarian(839;0.0563)	19					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.24C>T	CCDS54830.1																																																																																				0.582	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		44	321	0	0	0	1	0	44	321					T	446344	C	T	446344	2	4	79	1	0	0	0	0	0	0	0	1	5321	639	23	1		1	EXOC3	5	446344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12259	446344	180468916	5908	16225											
EXOC3	11336	broad.mit.edu	37	chr5	453694	453694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagctggctaagcagctgTggatggtgctgcagaggtca	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	203					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(574-576)Tgg>Cgg		exocyst complex component 3							79	80	79					5																	453694		2056	4198	6254	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:453694T>C	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.574T>C	5.37:g.453694T>C	ENSP00000425587:p.Trp192Arg					EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	763	+		Ovarian(839;0.0563)	203					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.574T>C	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151108	0.38021	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06849	3.25;3.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.46885	1.475	0.80722	D	1	P	0.35481	0.504	P	0.47786	0.557	T	0.14117	-1.0484	10	0.19590	T	0.45	-21.2894	13.6941	0.62567	0.0:0.0:0.0:1.0	.	203	O60645	EXOC3_HUMAN	R	192;192;202	ENSP00000425587:W192R;ENSP00000323377:W192R	ENSP00000323377:W192R	W	+	1	0	EXOC3	506694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.134000	0.65973	0.459000	0.35465	TGG		0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		62	297	0	0	0	1	0	62	297					C	453694	T	C	453694	3	2	79	1	0	0	0	0	1	0	0	0	5321	1696	59	4	584	4	EXOC3	5	453694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7350	453694	180461566	5909	16226											
SLC9A3	6550	broad.mit.edu	37	chr5	485298	485298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagtccacgccagtcaCgttgtcacctcccagcgcca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	242					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGCCAGTCACGTTGTCACCT	0.607																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(724-726)Gtg>Atg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							198	159	173					5																	485298		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:485298C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.724G>A	5.37:g.485298C>T	ENSP00000264938:p.Val242Met					SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	733	-			242					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.724G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057595	0.36277	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15487	2.42;2.42	4.15	4.15	0.48705	Cation/H+ exchanger (1);	0.277476	0.34750	N	0.003714	T	0.34077	0.0885	M	0.64170	1.965	0.33732	D	0.618384	D;D	0.69078	0.996;0.997	D;D	0.64042	0.921;0.911	T	0.51044	-0.8755	10	0.87932	D	0	.	11.1548	0.48480	0.0:0.9076:0.0:0.0924	.	242;242	E9PF67;P48764	.;SL9A3_HUMAN	M	242	ENSP00000264938:V242M;ENSP00000422983:V242M	ENSP00000264938:V242M	V	-	1	0	SLC9A3	538298	0.948000	0.32251	0.858000	0.33744	0.017000	0.09413	1.942000	0.40243	2.032000	0.59987	0.561000	0.74099	GTG		0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		10	302	0	0	0	1	0	10	302					T	485298	C	T	485298	3	4	79	1	0	0	0	0	1	0	0	0	14763	536	19	1	1836	1	SLC9A3	5	485298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31604	485298	180429962	5910	16227											
CEP72	55722	broad.mit.edu	37	chr5	619199	619199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtctgaaatctttGgatctctcgcgcaactcctt	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:619199G>A	ENST00000264935.5	+	2	267	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CEP72_ENST00000444221.1_Silent_p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	59					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGAAATCTTTGGATCTCTCGC	0.418																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(175-177)ttG>ttA		centrosomal protein 72kDa							167	162	164					5																	619199		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:619199G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.177G>A	5.37:g.619199G>A						CEP72_ENST00000444221.1_Silent_p.L59L	p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		2	267	+			59					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.177G>A	CCDS34126.1																																																																																				0.418	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		11	724	0	0	0	1	0	11	724					A	619199	G	A	619199	2	1	79	1	0	0	0	0	0	0	0	1	3269	1339	47	2		2	CEP72	5	619199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133901	619199	180296061	5911	16228											
CEP72	55722	broad.mit.edu	37	chr5	639260	639260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacggccctgcaggcggcGctcctggagacgctcttgga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	421					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGCAGGCGGCGCTCCTGGAGA	0.642																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1261-1263)gcG>gcA		centrosomal protein 72kDa							36	43	41					5																	639260		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639260G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1263G>A	5.37:g.639260G>A						CEP72_ENST00000444221.1_3'UTR	p.A421A	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1353	+			421					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1263G>A	CCDS34126.1																																																																																				0.642	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		18	422	0	0	0	1	0	18	422					A	639260	G	A	639260	2	1	79	1	0	0	0	0	0	0	0	1	3269	1074	38	1		1	CEP72	5	639260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20061	639260	180276000	5912	16229											
CEP72	55722	broad.mit.edu	37	chr5	653215	653215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggagctcaagaagaccAtggccctgtttccacacagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	631					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAAGAAGACCATGGCCCTGTT	0.612																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1891-1893)Atg>Gtg		centrosomal protein 72kDa							65	58	60					5																	653215		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:653215A>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1891A>G	5.37:g.653215A>G	ENSP00000264935:p.Met631Val					CEP72_ENST00000444221.1_3'UTR	p.M631V	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		12	1981	+			631					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1891A>G	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	1.946	-0.442362	0.04604	.	.	ENSG00000112877	ENST00000264935	T	0.09445	2.98	4.94	-5.89	0.02282	.	0.697067	0.13278	N	0.400000	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	10	0.30078	T	0.28	-4.3171	6.7257	0.23355	0.2447:0.4177:0.3375:0.0	.	631	Q9P209	CEP72_HUMAN	V	631	ENSP00000264935:M631V	ENSP00000264935:M631V	M	+	1	0	CEP72	706215	0.000000	0.05858	0.068000	0.19968	0.061000	0.15899	-1.330000	0.02675	-1.005000	0.03417	-0.425000	0.05940	ATG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		26	182	0	0	0	1	0	26	182					G	653215	A	G	653215	3	3	79	1	0	0	0	0	1	0	0	0	3269	217	8	4	1937	4	CEP72	5	653215	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13955	653215	180262045	5913	16230											
TPPP	11076	broad.mit.edu	37	chr5	677962	677962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccagttcttgccgtGcatctccctcccggtggccc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	72	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(214-216)Cac>Tac		tubulin polymerization promoting protein							129	86	101					5																	677962		2202	4300	6502	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:677962G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.214C>T	5.37:g.677962G>A	ENSP00000353785:p.His72Tyr						p.H72Y	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	335	-		Ovarian(839;0.0563)	72			Mediates interaction with LIMK1.			Missense_Mutation	SNP	ENST00000360578.5	37	c.214C>T	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350887	0.61183	.	.	ENSG00000171368	ENST00000360578	T	0.42900	0.96	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.51422	1.61	0.47862	D	0.999536	D	0.61697	0.99	P	0.62491	0.903	T	0.54820	-0.8236	10	0.54805	T	0.06	-32.1368	13.5508	0.61730	0.0:0.0:0.844:0.156	.	72	O94811	TPPP_HUMAN	Y	72	ENSP00000353785:H72Y	ENSP00000353785:H72Y	H	-	1	0	TPPP	730962	1.000000	0.71417	0.999000	0.59377	0.302000	0.27658	2.600000	0.46240	2.485000	0.83878	0.561000	0.74099	CAC		0.642	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		74	276	0	0	0	1	0	74	276					A	677962	G	A	677962	3	1	79	1	0	0	0	0	1	0	0	0	16466	1319	46	2	457	2	TPPP	5	677962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24747	677962	180237298	5914	16231											
TPPP	11076	broad.mit.edu	37	chr5	678080	678080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccctccgattccagCgacagcctcttggctgcccg	9	19	1	0	rs549762776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		15944	0.0		0.0	False		,,,				2504	0.001					ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(94-96)tcG>tcA		tubulin polymerization promoting protein							15	19	18					5																	678080		2198	4296	6494	SO:0001819	synonymous_variant	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:678080C>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.96G>A	5.37:g.678080C>T							p.S32S	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	217	-		Ovarian(839;0.0563)	32			Mediates interaction with LIMK1.			Silent	SNP	ENST00000360578.5	37	c.96G>A	CCDS3856.1																																																																																				0.692	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		20	131	0	0	0	1	0	20	131					T	678080	C	T	678080	2	4	79	1	0	0	0	0	0	0	0	1	16466	755	27	1		1	TPPP	5	678080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	678080	180237180	5915	16232											
NKD2	85409	broad.mit.edu	37	chr5	1034966	1034966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctccgtgtgaagctaacCgtcagccctgagccctccag	9	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000382730.2_5'Flank	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617																																						ENST00000296849.5																			1	Substitution - coding silent(1)	p.T174T(1)	breast(1)	breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(520-522)acC>acT		naked cuticle homolog 2 (Drosophila)							65	50	55					5																	1034966		2200	4294	6494	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034966C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.522C>T	5.37:g.1034966C>T						NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T	p.T174T	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		7	751	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		174			Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.522C>T	CCDS3859.1																																																																																				0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		24	121	0	0	0	1	0	24	121					T	1034966	C	T	1034966	2	4	79	1	0	0	0	0	0	0	0	1	10484	639	23	1		1	NKD2	5	1034966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356886	1034966	179880294	5916	16233											
SLC12A7	10723	broad.mit.edu	37	chr5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgccacccctgaccaggaGgactctgttcagcccctcgg	11	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1069					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3205-3207)Ctc>Atc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						105	102	103					5																	1052522		2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1052522G>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3205C>A	5.37:g.1052522G>T	ENSP00000264930:p.Leu1069Ile						p.L1069I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		24	3248	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1069					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.3205C>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000113504	ENST00000264930	T	0.57107	0.42	3.88	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.53594	0.1806	M	0.73430	2.235	0.46725	D	0.999177	P	0.41947	0.766	P	0.46144	0.505	T	0.50533	-0.8817	10	0.40728	T	0.16	.	5.193	0.15220	0.1123:0.0:0.6865:0.2012	.	1069	Q9Y666	S12A7_HUMAN	I	1069	ENSP00000264930:L1069I	ENSP00000264930:L1069I	L	-	1	0	SLC12A7	1105522	1.000000	0.71417	0.484000	0.27391	0.990000	0.78478	5.150000	0.64869	0.747000	0.32809	0.491000	0.48974	CTC		0.582	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		52	585	1	0	8.28887e-21	1	9.30627e-21	52	585					T	1052522	G	T	1052522	3	4	79	1	0	0	0	0	1	0	0	0	14438	1000	35	3	50	3	SLC12A7	5	1052522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17556	1052522	179862738	5917	16234											
SLC12A7	10723	broad.mit.edu	37	chr5	1052541	1052541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactctgttcagcccctcGgtcaggacttcaagaaactc	9	13	4	1	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1062					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20197	0.001		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3184-3186)acC>acT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		0,4406		0,0,2203	93	91	92		3186	-7.8	0.8	5	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1062/1084	1052541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1052541G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3186C>T	5.37:g.1052541G>A							p.T1062T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		24	3229	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1062					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.3186C>T	CCDS34129.1																																																																																				0.552	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		33	507	0	0	0	1	0	33	507					A	1052541	G	A	1052541	2	1	79	1	0	0	0	0	0	0	0	1	14438	1103	39	1		1	SLC12A7	5	1052541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	1052541	179862719	5918	16235											
SLC12A7	10723	broad.mit.edu	37	chr5	1064240	1064240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcatgagcatgccGccgtcgtgcacgatccacca	12	15	0	1	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	ENST00000264930.5	-	19	2608	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	855					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGCCGCCGTCGTGCA	0.687													G|||	6	0.00119808	0.0	0.0014	5008	,	,		10000	0.0		0.003	False		,,,				2504	0.002					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2563-2565)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4398	4.2+/-10.8	0,2,2198	43	38	40		2565	-2.2	1	5	dbSNP_134	40	8,8578	6.4+/-24.3	0,8,4285	no	coding-synonymous	SLC12A7	NM_006598.2		0,10,6483	AA,AG,GG		0.0932,0.0455,0.077		855/1084	1064240	10,12976	2200	4293	6493	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064240G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2565C>T	5.37:g.1064240G>A							p.G855G	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2608	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		855					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2565C>T	CCDS34129.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.483	0.860238	0.17178	4.55E-4	9.32E-4	ENSG00000113504	ENST00000513223	.	.	.	4.26	-2.24	0.06909	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	.	2.4554	0.04528	0.1945:0.1736:0.4441:0.1878	.	.	.	.	W	213	.	.	R	-	1	2	SLC12A7	1117240	0.189000	0.23263	0.999000	0.59377	0.657000	0.38888	-0.799000	0.04560	-0.046000	0.13446	0.313000	0.20887	CGG		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		12	195	0	0	0	1	0	12	195					A	1064240	G	A	1064240	2	1	79	1	0	0	0	0	0	0	0	1	14438	1074	38	1		1	SLC12A7	5	1064240	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11699	1064240	179851020	5919	16236											
SLC12A7	10723	broad.mit.edu	37	chr5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcaggcatcgaagctgcGccgtgacagcgtgcggttcc	15	13	0	1	rs373980691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	318					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(952-954)Cgc>Tgc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	67	62	64		952	3.7	0	5		64	0,8600		0,0,4300	no	missense	SLC12A7	NM_006598.2	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	318/1084	1084037	1,12999	2200	4300	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1084037G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.952C>T	5.37:g.1084037G>A	ENSP00000264930:p.Arg318Cys						p.R318C	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	995	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		318					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.952C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412562	0.42817	2.27E-4	0.0	ENSG00000113504	ENST00000264930	T	0.62941	-0.01	3.68	3.68	0.42216	.	0.203944	0.45361	D	0.000371	T	0.59756	0.2217	M	0.67953	2.075	0.09310	N	0.999996	P	0.44521	0.837	B	0.42522	0.39	T	0.58440	-0.7636	10	0.56958	D	0.05	.	9.8471	0.41034	0.0:0.0:0.7946:0.2054	.	318	Q9Y666	S12A7_HUMAN	C	318	ENSP00000264930:R318C	ENSP00000264930:R318C	R	-	1	0	SLC12A7	1137037	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.214000	0.32419	1.768000	0.52137	0.478000	0.44815	CGC		0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		50	219	0	0	0	1	0	50	219					A	1084037	G	A	1084037	3	1	79	1	0	0	0	0	1	0	0	0	14438	1087	38	1	2367	1	SLC12A7	5	1084037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19797	1084037	179831223	5920	16237											
SLC6A18	348932	broad.mit.edu	37	chr5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactacaacaccatcgtggCgtgggtgctgtggtacctcc	12	12	0	0	rs368718926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	120					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCATCGTGGCGTGGGTGCTG	0.652																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(358-360)gCg>gTg		solute carrier family 6 (neutral amino acid transporter), member 18		C	VAL/ALA	0,4406		0,0,2203	141	111	121		359	-1.1	0	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A18	NM_182632.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	120/629	1232923	1,13005	2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232923C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.359C>T	5.37:g.1232923C>T	ENSP00000323549:p.Ala120Val					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	482	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		120						Missense_Mutation	SNP	ENST00000324642.3	37	c.359C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583854	0.28268	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.79454	-1.27;-1.27	5.09	-1.09	0.09904	.	1.103530	0.06848	N	0.796804	T	0.76807	0.4039	M	0.82630	2.6	0.09310	N	1	B	0.24258	0.1	B	0.25506	0.061	T	0.65998	-0.6032	10	0.66056	D	0.02	.	5.6151	0.17426	0.0:0.4704:0.1309:0.3987	.	120	Q96N87	S6A18_HUMAN	V	120	ENSP00000323549:A120V;ENSP00000296821:A120V	ENSP00000296821:A120V	A	+	2	0	SLC6A18	1285923	0.004000	0.15560	0.002000	0.10522	0.056000	0.15407	1.822000	0.39052	-0.003000	0.14444	-0.438000	0.05819	GCG		0.652	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		101	420	0	0	0	1	0	101	420					T	1232923	C	T	1232923	3	4	79	1	0	0	0	0	1	0	0	0	14731	768	27	1	369	1	SLC6A18	5	1232923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148886	1232923	179682337	5921	16238											
SLC6A18	348932	broad.mit.edu	37	chr5	1240706	1240706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggatgacctccctgtaCgcgtccatcgctgtcttctc	8	15	2	1	rs149285920	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	302					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCCTGTACGCGTCCATCG	0.592																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(904-906)taC>taT		solute carrier family 6 (neutral amino acid transporter), member 18		C		1,4405	2.1+/-5.4	0,1,2202	203	145	165		906	-5.2	0.2	5	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	SLC6A18	NM_182632.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		302/629	1240706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1240706C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.906C>T	5.37:g.1240706C>T						SLC6A18_ENST00000296821.4_Silent_p.Y297Y	p.Y302Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1029	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		302						Silent	SNP	ENST00000324642.3	37	c.906C>T	CCDS3860.1																																																																																				0.592	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		87	287	0	0	0	1	0	87	287					T	1240706	C	T	1240706	2	4	79	1	0	0	0	0	0	0	0	1	14731	547	19	1		1	SLC6A18	5	1240706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7783	1240706	179674554	5922	16239											
SLC6A18	348932	broad.mit.edu	37	chr5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcagaaacatcctcaGcctcatcaacgactttgact	5	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	329					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTCAGCCTCATCAAC	0.587																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(985-987)aGc>aTc		solute carrier family 6 (neutral amino acid transporter), member 18							181	144	156					5																	1242833		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1242833G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.986G>T	5.37:g.1242833G>T	ENSP00000323549:p.Ser329Ile					SLC6A18_ENST00000296821.4_Intron	p.S329I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1109	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		329						Missense_Mutation	SNP	ENST00000324642.3	37	c.986G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306277	0.01353	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	-2.25	0.06888	.	0.911571	0.09481	N	0.796400	T	0.44746	0.1308	N	0.10733	0.035	0.09310	N	1	B	0.25772	0.134	B	0.23018	0.043	T	0.21724	-1.0237	10	0.18276	T	0.48	.	1.7053	0.02881	0.1583:0.129:0.3165:0.3962	.	329	Q96N87	S6A18_HUMAN	I	329	ENSP00000323549:S329I	ENSP00000323549:S329I	S	+	2	0	SLC6A18	1295833	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.223000	0.17719	-0.985000	0.03503	-0.268000	0.10319	AGC		0.587	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		51	256	1	0	6.31075e-24	1	7.19376e-24	51	256					T	1242833	G	T	1242833	3	4	79	1	0	0	0	0	1	0	0	0	14731	971	34	3	1016	3	SLC6A18	5	1242833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2127	1242833	179672427	5923	16240											
TERT	7015	broad.mit.edu	37	chr5	1254618	1254618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggcccccagcgacaTccctgggggaaaacagaggc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	ENST00000310581.5	-	15	3217	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1054	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCCAGCGACATCCCTGGGGGA	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(3160-3162)Atg>Gtg		telomerase reverse transcriptase							17	21	20					5																	1254618		2072	4211	6283	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1254618T>C	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3160A>G	5.37:g.1254618T>C	ENSP00000309572:p.Met1054Val					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	p.M1054V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		15	3217	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1054			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3160A>G	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	t	0.061	-1.224119	0.01530	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96073	-3.9;-3.8	4.28	-5.67	0.02444	.	0.735512	0.13043	N	0.418388	D	0.83238	0.5211	N	0.13352	0.335	0.20563	N	0.999882	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.75923	-0.3146	10	0.09590	T	0.72	-12.4951	2.127	0.03741	0.1326:0.3539:0.2934:0.2201	.	991;1054	O14746-3;O14746	.;TERT_HUMAN	V	1054;991	ENSP00000309572:M1054V;ENSP00000334346:M991V	ENSP00000309572:M1054V	M	-	1	0	TERT	1307618	0.000000	0.05858	0.016000	0.15963	0.115000	0.19883	-2.797000	0.00763	-0.529000	0.06358	0.397000	0.26171	ATG		0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			29	108	0	0	0	1	0	29	108					C	1254618	T	C	1254618	3	2	79	1	0	0	0	0	1	0	0	0	15816	1435	50	4	246	4	TERT	5	1254618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11785	1254618	179660642	5924	16241											
TERT	7015	broad.mit.edu	37	chr5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaaagacctgagcagctCgacgacgtacacactcatca	8	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000508104.2_Missense_Mutation_p.E555K|TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			2	Substitution - Missense(2)	p.E555Q(2)	kidney(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1663-1665)Gag>Aag		telomerase reverse transcriptase							132	121	125					5																	1282650		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1282650C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>A	5.37:g.1282650C>T	ENSP00000309572:p.Glu555Lys					TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K	p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1720	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		555					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1663G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342421	0.24339	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.82167	0.4978	L	0.55834	1.745	0.30140	N	0.804002	P;P;P	0.51351	0.931;0.923;0.944	B;B;P	0.46208	0.374;0.379;0.507	T	0.76405	-0.2971	10	0.11794	T	0.64	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	555	ENSP00000309572:E555K;ENSP00000296820:E555K;ENSP00000334346:E555K;ENSP00000426042:E555K	ENSP00000296820:E555K	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG		0.527	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			66	364	0	0	0	1	0	66	364					T	1282650	C	T	1282650	3	4	79	1	0	0	0	0	1	0	0	0	15816	893	31	1	1791	1	TERT	5	1282650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28032	1282650	179632610	5925	16242											
SLC6A3	6531	broad.mit.edu	37	chr5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagaacttgtaggccGcatagatgggcaccatggcc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGTAGGCCGCATAGATGGG	0.632																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1726-1728)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						70	61	64					5																	1403077		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403077G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1727C>T	5.37:g.1403077G>A	ENSP00000270349:p.Ala576Val					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1854	-			576			Interaction with TGFB1I1.		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1727C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	SLC6A3	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG		0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		28	161	0	0	0	1	0	28	161					A	1403077	G	A	1403077	3	1	79	1	0	0	0	0	1	0	0	0	14735	1087	38	1	147	1	SLC6A3	5	1403077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120427	1403077	179512183	5926	16243											
SLC6A3	6531	broad.mit.edu	37	chr5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggaaggagaagacgaCgaagccggaggagaagctcg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	363					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GAGAAGACGACGAAGCCGGAG	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1087-1089)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						101	86	91					5																	1414875		2203	4299	6502	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1414875C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1087G>A	5.37:g.1414875C>T	ENSP00000270349:p.Val363Ile					SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		8	1214	-			363					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1087G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443100	0.96187	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75589	-0.95;-0.95	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.71206	2.165	0.58432	D	0.999999	D	0.63880	0.993	P	0.59595	0.86	D	0.85050	0.0928	10	0.72032	D	0.01	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	363	Q01959	SC6A3_HUMAN	I	363	ENSP00000270349:V363I;ENSP00000399806:V363I	ENSP00000270349:V363I	V	-	1	0	SLC6A3	1467875	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.116000	0.77119	1.837000	0.53436	0.555000	0.69702	GTC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		52	270	0	0	0	1	0	52	270					T	1414875	C	T	1414875	3	4	79	1	0	0	0	0	1	0	0	0	14735	536	19	1	807	1	SLC6A3	5	1414875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11798	1414875	179500385	5927	16244											
NDUFS6	4726	broad.mit.edu	37	chr5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttttccaggtttatgatGataaagactacaggagaatt	8	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N|MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000382647.7_5'Flank|MRPL36_ENST00000505059.2_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	48					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						GGTTTATGATGATAAAGACTA	0.338																																						ENST00000274137.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(142-144)Gat>Aat		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						99	102	101					5																	1802444		2203	4300	6503	SO:0001583	missense	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1802444G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7713	protein-coding gene	gene with protein product	"complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"	603848	"NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.142G>A	5.37:g.1802444G>A	ENSP00000274137:p.Asp48Asn					NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N	p.D48N	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			2	160	+			48						Missense_Mutation	SNP	ENST00000274137.5	37	c.142G>A	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080091	0.36662	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77098	-1.07	4.32	1.48	0.22813	.	0.417168	0.26855	N	0.022151	T	0.71409	0.3336	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62817	-0.6774	10	0.59425	D	0.04	-2.9912	7.4969	0.27494	0.2902:0.0:0.7098:0.0	.	48	O75380	NDUS6_HUMAN	N	48	ENSP00000274137:D48N	ENSP00000274137:D48N	D	+	1	0	NDUFS6	1855444	0.992000	0.36948	0.003000	0.11579	0.961000	0.63080	4.399000	0.59703	-0.008000	0.14320	0.558000	0.71614	GAT		0.338	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		50	227	0	0	0	1	0	50	227					A	1802444	G	A	1802444	3	1	79	1	0	0	0	0	1	0	0	0	10338	1290	45	2	148	2	NDUFS6	5	1802444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387569	1802444	179112816	5928	16245											
IRX2	153572	broad.mit.edu	37	chr5	2747723	2747723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccacggtgcagccctcGctggcatctgtcaggggagt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1369-1371)agC>agT		iroquois homeobox 2							43	40	41					5																	2747723		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2747723G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1371C>T	5.37:g.2747723G>A						IRX2_ENST00000302057.5_Silent_p.S457S	p.S457S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	4	1619	-			457					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.1371C>T	CCDS3868.1																																																																																				0.642	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			65	179	0	0	0	1	0	65	179					A	2747723	G	A	2747723	2	1	79	1	0	0	0	0	0	0	0	1	7874	1078	38	1		1	IRX2	5	2747723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945279	2747723	178167537	5929	16246											
IRX2	153572	broad.mit.edu	37	chr5	2748989	2748989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcacgggcttgggcggcGccaggccccgctcgccctcc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	ENST00000382611.6	-	3	1081	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	278					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTGGGCGGCGCCAGGCCCCG	0.746																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(832-834)gCg>gTg		iroquois homeobox 2							10	11	11					5																	2748989		2159	4215	6374	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748989G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.833C>T	5.37:g.2748989G>A	ENSP00000372056:p.Ala278Val					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A278V	p.A278V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1081	-			278					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.833C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142597	0.09083	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.65178	-0.14;-0.14;-0.07	4.51	-1.28	0.09318	.	0.598049	0.18305	N	0.145282	T	0.34600	0.0903	N	0.12182	0.205	0.27280	N	0.95812	B	0.02656	0.0	B	0.04013	0.001	T	0.14671	-1.0464	10	0.21014	T	0.42	-4.7565	6.5074	0.22202	0.2142:0.2378:0.548:0.0	.	278	Q9BZI1	IRX2_HUMAN	V	278;278;185	ENSP00000372056:A278V;ENSP00000307006:A278V;ENSP00000426151:A185V	ENSP00000307006:A278V	A	-	2	0	IRX2	2801989	0.484000	0.25964	0.614000	0.29051	0.660000	0.38997	0.406000	0.21032	-0.164000	0.10927	-0.244000	0.11960	GCG		0.746	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			24	109	0	0	0	1	0	24	109					A	2748989	G	A	2748989	3	1	79	1	0	0	0	0	1	0	0	0	7874	1087	38	1	590	1	IRX2	5	2748989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	2748989	178166271	5930	16247											
IRX2	153572	broad.mit.edu	37	chr5	2749012	2749012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccgctcgccctcctcGtcgtcgtcctcgtcgtcctc	9	21	0	0	rs183565355		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	ENST00000382611.6	-	3	1058	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	270					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCCTCCTCGTCGTCGTCCT	0.731																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(808-810)gaC>gaT		iroquois homeobox 2																																				SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749012G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.810C>T	5.37:g.2749012G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D270D	p.D270D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1058	-			270					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.810C>T	CCDS3868.1																																																																																				0.731	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			25	118	0	0	0	1	0	25	118					A	2749012	G	A	2749012	2	1	79	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	IRX2	5	2749012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2749012	178166248	5931	16248											
IRX2	153572	broad.mit.edu	37	chr5	2749024	2749024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcgtcgtcgtcctcGtcgtcctccaggtcgtcata	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	ENST00000382611.6	-	3	1046	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	266					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCCTCGTCGTCCTCCA	0.726																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(796-798)gaC>gaT		iroquois homeobox 2							17	17	17					5																	2749024		2189	4276	6465	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749024G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.798C>T	5.37:g.2749024G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D266D	p.D266D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1046	-			266					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.798C>T	CCDS3868.1																																																																																				0.726	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			22	131	0	0	0	1	0	22	131					A	2749024	G	A	2749024	2	1	79	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	IRX2	5	2749024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	2749024	178166236	5932	16249											
IRX2	153572	broad.mit.edu	37	chr5	2749548	2749548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccttgtcgggactctcGtccttgcttctggtagcgtc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000382611.6	-	2	851	c.603C>T	c.(601-603)gaC>gaT	p.D201D	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.D201D|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	201					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(601-603)gaC>gaT		iroquois homeobox 2							101	93	96					5																	2749548		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749548G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.603C>T	5.37:g.2749548G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D201D	p.D201D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	851	-			201					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.603C>T	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			54	280	0	0	0	1	0	54	280					A	2749548	G	A	2749548	2	1	79	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	IRX2	5	2749548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524	2749548	178165712	5933	16250											
IRX2	153572	broad.mit.edu	37	chr5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttctcggggcccagGtcatcttgttctccttcttg	9	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000382611.6	-	2	784	c.536C>T	c.(535-537)aCc>aTc	p.T179I	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602																																						ENST00000382611.6																			1	Complex - compound substitution(1)	p.T179>I(1)	skin(1)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(535-537)aCc>aTc		iroquois homeobox 2							141	133	135					5																	2749615		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749615G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.536C>T	5.37:g.2749615G>A	ENSP00000372056:p.Thr179Ile					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I	p.T179I	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	784	-			179					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.536C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026629	0.93518	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92552	0.6051	10	0.87932	D	0	-29.3434	17.9697	0.89110	0.0:0.0:1.0:0.0	.	179	Q9BZI1	IRX2_HUMAN	I	179;179;86	ENSP00000372056:T179I;ENSP00000307006:T179I;ENSP00000426151:T86I	ENSP00000307006:T179I	T	-	2	0	IRX2	2802615	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.367000	0.97148	2.239000	0.73571	0.655000	0.94253	ACC		0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			103	437	0	0	0	1	0	103	437					A	2749615	G	A	2749615	3	1	79	1	0	0	0	0	1	0	0	0	7874	1261	44	2	891	2	IRX2	5	2749615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	2749615	178165645	5934	16251											
IRX2	153572	broad.mit.edu	37	chr5	2749890	2749890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccggtggtgtgcgcgtcGtagggtgcgccctggaacca	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000382611.6	-	2	509	c.261C>T	c.(259-261)taC>taT	p.Y87Y	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.Y87Y|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	87					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(259-261)taC>taT		iroquois homeobox 2							47	52	50					5																	2749890		2203	4299	6502	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749890G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.261C>T	5.37:g.2749890G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y87Y	p.Y87Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	509	-			87					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.261C>T	CCDS3868.1																																																																																				0.692	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			42	279	0	0	0	1	0	42	279					A	2749890	G	A	2749890	2	1	79	1	0	0	0	0	0	0	0	1	7874	1140	40	1		1	IRX2	5	2749890	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	2749890	178165370	5935	16252											
C5orf38	153571	broad.mit.edu	37	chr5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccctcgcggtccactccGcccagcatggacctggatcc	9	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000334000.3	+	1	259	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|IRX2_ENST00000502957.1_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	48						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711																																						ENST00000515640.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(142-144)Gcc>Acc		chromosome 5 open reading frame 38							14	16	15					5																	2752520		2202	4295	6497	SO:0001583	missense	153571					extracellular region		g.chr5:2752520G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.142G>A	5.37:g.2752520G>A	ENSP00000334267:p.Ala48Thr					IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|C5orf38_ENST00000334000.3_Missense_Mutation_p.A48T	p.A48T			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	1	161	+			48						Missense_Mutation	SNP	ENST00000334000.3	37	c.142G>A	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.078884	0.01903	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	-2.6	0.06190	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.42871	0.792	B	0.38225	0.268	T	0.15578	-1.0432	8	0.87932	D	0	.	6.613	0.22761	0.0:0.1469:0.3988:0.4543	.	48	Q86SI9	CEI_HUMAN	T	48	.	ENSP00000334267:A48T	A	+	1	0	C5orf38	2805520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-1.262000	0.02459	-2.048000	0.00412	GCC		0.711	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		20	63	0	0	0	1	0	20	63					A	2752520	G	A	2752520	3	1	79	1	0	0	0	0	1	0	0	0	2303	1087	38	1	144	1	C5orf38	5	2752520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2630	2752520	178162740	5936	16253											
IRX1	79192	broad.mit.edu	37	chr5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctaccccaccaagggcgaGaagatcatgctggccatcat	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	159					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(475-477)gaG>gaT		iroquois homeobox 1							162	126	138					5																	3599539		2203	4298	6501	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599539G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.477G>T	5.37:g.3599539G>T	ENSP00000305244:p.Glu159Asp					CTD-2012M11.3_ENST00000559410.1_RNA	p.E159D	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	529	+			159					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.477G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015539	0.93404	.	.	ENSG00000170549	ENST00000302006	D	0.85702	-2.02	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89451	0.3730	10	0.46703	T	0.11	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	159	P78414	IRX1_HUMAN	D	159	ENSP00000305244:E159D	ENSP00000305244:E159D	E	+	3	2	IRX1	3652539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.478000	0.73596	2.173000	0.68751	0.655000	0.94253	GAG		0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		85	498	1	0	2.05912e-35	1	2.45818e-35	85	498					T	3599539	G	T	3599539	3	4	79	1	0	0	0	0	1	0	0	0	7873	933	33	3	483	3	IRX1	5	3599539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	847019	3599539	177315721	5937	16254											
IRX1	79192	broad.mit.edu	37	chr5	3599698	3599698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcagcgacaccgagggCgacccggagaaggccgagga	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(634-636)ggC>ggT		iroquois homeobox 1							66	60	62					5																	3599698		2203	4300	6503	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599698C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	5.37:g.3599698C>T						CTD-2012M11.3_ENST00000559410.1_RNA	p.G212G	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	688	+			212					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.636C>T	CCDS34132.1																																																																																				0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		13	291	0	0	0	1	0	13	291					T	3599698	C	T	3599698	2	4	79	1	0	0	0	0	0	0	0	1	7873	755	27	1		1	IRX1	5	3599698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	3599698	177315562	5938	16255											
IRX1	79192	broad.mit.edu	37	chr5	3600167	3600167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtacacctgccacatcGgcaagttctccaactggacc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	ENST00000302006.3	+	2	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	369					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGCCACATCGGCAAGTTCTC	0.711																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1105-1107)Ggc>Agc		iroquois homeobox 1																																				SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600167G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1105G>A	5.37:g.3600167G>A	ENSP00000305244:p.Gly369Ser					CTD-2012M11.3_ENST00000559410.1_RNA	p.G369S	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1157	+			369					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1105G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007181	0.75046	.	.	ENSG00000170549	ENST00000302006	T	0.69561	-0.41	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	L	0.60455	1.87	0.58432	D	0.999999	D	0.69078	0.997	P	0.51016	0.656	T	0.70842	-0.4762	10	0.30854	T	0.27	.	17.2481	0.87034	0.0:0.0:1.0:0.0	.	369	P78414	IRX1_HUMAN	S	369	ENSP00000305244:G369S	ENSP00000305244:G369S	G	+	1	0	IRX1	3653167	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.329000	0.79170	2.018000	0.59344	0.563000	0.77884	GGC		0.711	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		16	94	0	0	0	1	0	16	94					A	3600167	G	A	3600167	3	1	79	1	0	0	0	0	1	0	0	0	7873	1116	39	1	1111	1	IRX1	5	3600167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	3600167	177315093	5939	16256											
IRX1	79192	broad.mit.edu	37	chr5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagagagagacctcgtccCcaggccagattcgccggcac	12	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	443					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1327-1329)cCc>cTc		iroquois homeobox 1							56	60	59					5																	3600738		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600738C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1328C>T	5.37:g.3600738C>T	ENSP00000305244:p.Pro443Leu						p.P443L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			3	1380	+			443					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1328C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	6.284	0.420504	0.11928	.	.	ENSG00000170549	ENST00000302006	T	0.56941	0.43	4.17	3.3	0.37823	.	0.611325	0.15458	N	0.261247	T	0.37919	0.1021	N	0.22421	0.69	0.40193	D	0.977423	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.33940	T	0.23	.	11.74	0.51788	0.0:0.9124:0.0:0.0876	.	443	P78414	IRX1_HUMAN	L	443	ENSP00000305244:P443L	ENSP00000305244:P443L	P	+	2	0	IRX1	3653738	1.000000	0.71417	0.397000	0.26308	0.201000	0.24016	2.611000	0.46334	0.729000	0.32403	0.467000	0.42956	CCC		0.617	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		67	405	0	0	0	1	0	67	405					T	3600738	C	T	3600738	3	4	79	1	0	0	0	0	1	0	0	0	7873	623	22	2	1338	2	IRX1	5	3600738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	3600738	177314522	5940	16257											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232600	5232600	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgcggagggggagtatcTcataggagtcgcctctgcac	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	607	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						GGGGAGTATCTCATAGGAGTC	0.557																																						ENST00000274181.7																			0				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						c.(1819-1821)tcT>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							99	113	108					5																	5232600		2170	4268	6438	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232600T>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.1821T>A	5.37:g.5232600T>A							p.S607S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			12	1959	+			607			TSP type-1 1.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1821T>A	CCDS43299.1																																																																																				0.557	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		100	470	0	0	0	1	0	100	470					A	5232600	T	A	5232600	2	1	79	1	0	0	0	0	0	0	0	1	261	1538	54	5		5	ADAMTS16	5	5232600	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1631862	5232600	175682660	5941	16258											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcacaggggtctctacaCcaagcaccaccacaccaacc	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	753	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						GGTCTCTACACCAAGCACCAC	0.512																																						ENST00000274181.7																			0				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						c.(2257-2259)aCc>aTc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							172	171	171					5																	5239367		2063	4214	6277	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239367C>T	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.2258C>T	5.37:g.5239367C>T	ENSP00000274181:p.Thr753Ile						p.T753I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2396	+			753			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2258C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612653	0.28712	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54279	0.58	5.85	4.01	0.46588	ADAM-TS Spacer 1 (1);	0.278678	0.32624	N	0.005843	T	0.56630	0.1998	M	0.73962	2.25	0.19300	N	0.99998	B;B	0.32653	0.379;0.257	B;B	0.35813	0.197;0.211	T	0.53308	-0.8457	10	0.52906	T	0.07	.	15.354	0.74412	0.0:0.7418:0.2582:0.0	.	753;753	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	753	ENSP00000274181:T753I	ENSP00000274181:T753I	T	+	2	0	ADAMTS16	5292367	0.959000	0.32827	0.001000	0.08648	0.356000	0.29392	1.085000	0.30840	0.754000	0.32968	0.655000	0.94253	ACC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		145	474	0	0	0	1	0	145	474					T	5239367	C	T	5239367	3	4	79	1	0	0	0	0	1	0	0	0	261	507	18	2	2316	2	ADAMTS16	5	5239367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6767	5239367	175675893	5942	16259											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtatgtttctggaaagTatcgagagctggcctcaaag	11	6	2	1	rs200073500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1087	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						TTCTGGAAAGTATCGAGAGCT	0.488																																						ENST00000274181.7																			0				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						c.(3259-3261)Tat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 16							84	84	84					5																	5306689		1918	4121	6039	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306689T>C	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.3259T>C	5.37:g.5306689T>C	ENSP00000274181:p.Tyr1087His						p.Y1087H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			21	3397	+			1087			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3259T>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871652	0.33069	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	4.36	0.52297	.	0.073859	0.56097	D	0.000031	T	0.66177	0.2763	M	0.61703	1.905	0.40458	D	0.980219	D	0.76494	0.999	D	0.70487	0.969	T	0.64045	-0.6499	10	0.15066	T	0.55	.	7.8219	0.29292	0.0:0.0933:0.0:0.9067	.	1087	Q8TE57	ATS16_HUMAN	H	1087	ENSP00000274181:Y1087H	ENSP00000274181:Y1087H	Y	+	1	0	ADAMTS16	5359689	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	5.836000	0.69375	0.952000	0.37798	0.459000	0.35465	TAT		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		97	369	0	0	0	1	0	97	369					C	5306689	T	C	5306689	3	2	79	1	0	0	0	0	1	0	0	0	261	1638	57	4	3341	4	ADAMTS16	5	5306689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67322	5306689	175608571	5943	16260											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctggcctcaaagaagtGctcacatttgccgaagccca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1095	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						TCAAAGAAGTGCTCACATTTG	0.542																																						ENST00000274181.7																			0				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						c.(3283-3285)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							67	68	68					5																	5306714		1935	4137	6072	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306714G>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.3284G>A	5.37:g.5306714G>A	ENSP00000274181:p.Cys1095Tyr						p.C1095Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			21	3422	+			1095			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3284G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030328	0.35797	.	.	ENSG00000145536	ENST00000274181	T	0.72835	-0.69	5.51	4.61	0.57282	.	0.115575	0.64402	D	0.000013	T	0.76478	0.3993	M	0.90870	3.155	0.49130	D	0.999753	B	0.15141	0.012	B	0.21917	0.037	T	0.76310	-0.3006	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1095	Q8TE57	ATS16_HUMAN	Y	1095	ENSP00000274181:C1095Y	ENSP00000274181:C1095Y	C	+	2	0	ADAMTS16	5359714	1.000000	0.71417	0.921000	0.36526	0.117000	0.20001	7.121000	0.77160	1.262000	0.44165	0.561000	0.74099	TGC		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		74	277	0	0	0	1	0	74	277					A	5306714	G	A	5306714	3	1	79	1	0	0	0	0	1	0	0	0	261	1319	46	2	3366	2	ADAMTS16	5	5306714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	5306714	175608546	5944	16261											
KIAA0947	23379	broad.mit.edu	37	chr5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtaaataaagtgacaActtctggactcgagactttc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		439					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAAAGTGACAACTTCTGGACT	0.433																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1315-1317)Act>Tct		KIAA0947							63	61	62					5																	5460762		1955	4149	6104	SO:0001583	missense	23379							g.chr5:5460762A>T																												ENST00000296564.7:c.1315A>T	5.37:g.5460762A>T	ENSP00000296564:p.Thr439Ser						p.T439S	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	1537	+			439					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1315A>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025657	0.19512	.	.	ENSG00000164151	ENST00000296564	T	0.42900	0.96	4.04	-8.09	0.01090	.	1.297730	0.05004	N	0.469731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.24621	-1.0155	10	0.06236	T	0.91	-3.1643	7.2261	0.26016	0.2062:0.4113:0.3824:0.0	.	439	Q9Y2F5	K0947_HUMAN	S	439	ENSP00000296564:T439S	ENSP00000296564:T439S	T	+	1	0	KIAA0947	5513762	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.578000	0.00425	-1.119000	0.02958	0.254000	0.18369	ACT		0.433	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	109	0	0	0	1	0	9	109					T	5460762	A	T	5460762	3	4	79	1	0	0	0	0	1	0	0	0	8232	43	2	5	1365	5	KIAA0947	5	5460762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154048	5460762	175454498	5945	16262											
KIAA0947	23379	broad.mit.edu	37	chr5	5463617	5463617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagttctaactgcgaggcCgaaacaacatttcagtgtca	8	10	3	0	rs542440431		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1390					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTGCGAGGCCGAAACAACAT	0.453																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4168-4170)gcC>gcT		KIAA0947							32	33	33					5																	5463617		1997	4167	6164	SO:0001819	synonymous_variant	23379							g.chr5:5463617C>T																												ENST00000296564.7:c.4170C>T	5.37:g.5463617C>T							p.A1390A	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4392	+			1390					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4170C>T	CCDS47187.1																																																																																				0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			17	72	0	0	0	1	0	17	72					T	5463617	C	T	5463617	2	4	79	1	0	0	0	0	0	0	0	1	8232	639	23	1		1	KIAA0947	5	5463617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2855	5463617	175451643	5946	16263											
KIAA0947	23379	broad.mit.edu	37	chr5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccaactttgataagagtCgtttgcgaaatagacccgtt	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1509					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATAAGAGTCGTTTGCGAAA	0.428																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4525-4527)Cgt>Tgt		KIAA0947							51	49	49					5																	5463972		1908	4117	6025	SO:0001583	missense	23379							g.chr5:5463972C>T																												ENST00000296564.7:c.4525C>T	5.37:g.5463972C>T	ENSP00000296564:p.Arg1509Cys						p.R1509C	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4747	+			1509					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4525C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527259	0.64860	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	5.38	3.42	0.39159	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.26004	N	0.982075	P	0.40534	0.72	B	0.34873	0.191	T	0.13361	-1.0512	9	0.37606	T	0.19	-10.3331	5.3434	0.15996	0.2153:0.6816:0.0:0.1031	.	1509	Q9Y2F5	K0947_HUMAN	C	1509	ENSP00000296564:R1509C	ENSP00000296564:R1509C	R	+	1	0	KIAA0947	5516972	0.000000	0.05858	0.578000	0.28575	0.986000	0.74619	0.450000	0.21762	2.524000	0.85096	0.460000	0.39030	CGT		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			35	148	0	0	0	1	0	35	148					T	5463972	C	T	5463972	3	4	79	1	0	0	0	0	1	0	0	0	8232	884	31	1	4575	1	KIAA0947	5	5463972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355	5463972	175451288	5947	16264											
KIAA0947	23379	broad.mit.edu	37	chr5	5464772	5464772	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaagggaatattcaactCacacgaggtccgcctgctga	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1775					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTCAACTCACACGAGGTC	0.483																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(5323-5325)ctC>ctT		KIAA0947							35	35	35					5																	5464772		1909	4116	6025	SO:0001819	synonymous_variant	23379							g.chr5:5464772C>T																												ENST00000296564.7:c.5325C>T	5.37:g.5464772C>T							p.L1775L	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	5547	+			1775					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.5325C>T	CCDS47187.1																																																																																				0.483	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			15	108	0	0	0	1	0	15	108					T	5464772	C	T	5464772	2	4	79	1	0	0	0	0	0	0	0	1	8232	813	29	2		2	KIAA0947	5	5464772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800	5464772	175450488	5948	16265											
KIAA0947	23379	broad.mit.edu	37	chr5	5489440	5489440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacagaggagcttggCtgacctgggatgccactgag	15	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2266					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGAGCTTGGCTGACCTGGGA	0.498																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6796-6798)ggC>ggT		KIAA0947							35	37	36					5																	5489440		2059	4207	6266	SO:0001819	synonymous_variant	23379							g.chr5:5489440C>T																												ENST00000296564.7:c.6798C>T	5.37:g.5489440C>T							p.G2266G	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			19	7020	+			2266					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6798C>T	CCDS47187.1																																																																																				0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			14	75	0	0	0	1	0	14	75					T	5489440	C	T	5489440	2	4	79	1	0	0	0	0	0	0	0	1	8232	784	28	2		2	KIAA0947	5	5489440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24668	5489440	175425820	5949	16266											
MED10	84246	broad.mit.edu	37	chr5	6372625	6372625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagctggttaagaaggCgggtgatcctccccccggat	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	133					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(397-399)ccG>ccA		mediator complex subunit 10							110	109	110					5																	6372625		2203	4300	6503	SO:0001819	synonymous_variant	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6372625C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.399G>A	5.37:g.6372625C>T							p.P133P	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			4	509	-			133					C6G491	Silent	SNP	ENST00000255764.3	37	c.399G>A	CCDS34134.1																																																																																				0.522	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		39	313	0	0	0	1	0	39	313					T	6372625	C	T	6372625	2	4	79	1	0	0	0	0	0	0	0	1	9467	755	27	1		1	MED10	5	6372625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883185	6372625	174542635	5950	16267											
MED10	84246	broad.mit.edu	37	chr5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcccggcctggctgCtgggctggaagtcactgacg	17	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	32					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(94-96)aGc>aAc		mediator complex subunit 10							65	57	59					5																	6378502		2203	4300	6503	SO:0001583	missense	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6378502C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.95G>A	5.37:g.6378502C>T	ENSP00000255764:p.Ser32Asn						p.S32N	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			1	205	-			32					C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	c.95G>A	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299068	0.95574	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.11	5.11	0.69529	.	0.035738	0.85682	D	0.000000	T	0.42291	0.1196	L	0.31207	0.915	0.80722	D	1	P	0.47841	0.901	B	0.41374	0.355	T	0.24835	-1.0149	9	0.19147	T	0.46	-17.8345	17.5168	0.87776	0.0:1.0:0.0:0.0	.	32	Q9BTT4	MED10_HUMAN	N	32	.	ENSP00000255764:S32N	S	-	2	0	MED10	6431502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.867000	0.75511	2.389000	0.81357	0.484000	0.47621	AGC		0.647	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		32	112	0	0	0	1	0	32	112					T	6378502	C	T	6378502	3	4	79	1	0	0	0	0	1	0	0	0	9467	797	28	2	328	2	MED10	5	6378502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5877	6378502	174536758	5951	16268											
NSUN2	54888	broad.mit.edu	37	chr5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaacagtatcttaacaTcttccattgatacagtaata	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000264670.6	-	17	2188	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A|NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1876-1878)gAt>gCt		NOP2/Sun RNA methyltransferase family, member 2							111	110	110					5																	6604331		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6604331T>G	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.1877A>C	5.37:g.6604331T>G	ENSP00000264670:p.Asp626Ala					NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	p.D626A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			17	2188	-			626					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1877A>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407983	0.83340	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64438	-0.1;-0.1;-0.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.81623	-0.0849	10	0.15952	T	0.53	-52.9141	16.3668	0.83335	0.0:0.0:0.0:1.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	A	626;390;591	ENSP00000264670:D626A;ENSP00000444338:D390A;ENSP00000420957:D591A	ENSP00000264670:D626A	D	-	2	0	NSUN2	6657331	1.000000	0.71417	0.952000	0.39060	0.677000	0.39632	6.985000	0.76193	2.322000	0.78497	0.528000	0.53228	GAT		0.363	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		41	195	0	0	0	1	0	41	195					G	6604331	T	G	6604331	3	3	79	1	0	0	0	0	1	0	0	0	10720	1435	50	4	438	4	NSUN2	5	6604331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225829	6604331	174310929	5952	16269											
PAPD7	11044	broad.mit.edu	37	chr5	6751208	6751208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagttcagtctgcaagcGccagctcctctcatggccgg	10	15	3	0	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	ENST00000230859.6	+	11	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	619					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCAAGCGCCAGCTCCTC	0.532													G|||	28	0.00559105	0.0	0.0101	5008	,	,		16057	0.002		0.0119	False		,,,				2504	0.0072				NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1165-1167)gcG>gcA		PAP associated domain containing 7		G	,,	8,4398	14.3+/-33.2	0,8,2195	136	131	133		1167,627,1167	-11.6	0	5	dbSNP_132	133	79,8521	46.3+/-105.2	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	0,87,6416	AA,AG,GG		0.9186,0.1816,0.6689	,,	389/542,209/363,389/543	6751208	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6751208G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1167G>A	5.37:g.6751208G>A							p.A389A	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			11	1296	+			389					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	c.1167G>A	CCDS3871.1																																																																																				0.532	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		121	510	0	0	0	1	0	121	510					A	6751208	G	A	6751208	2	1	79	1	0	0	0	0	0	0	0	1	11468	1074	38	1		1	PAPD7	5	6751208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146877	6751208	174164052	5953	16270											
ADCY2	108	broad.mit.edu	37	chr5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcataattttcaaaatcGcaccttaaggtatggtatct	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTCAAAATCGCACCTTAAGG	0.303																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1612-1614)cGc>cAc		adenylate cyclase 2 (brain)							128	124	125					5																	7713003		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7713003G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1613G>A	5.37:g.7713003G>A	ENSP00000342952:p.Arg538His					RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H	p.R538H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			11	1702	+			538					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1613G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507890	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77489	-1.1;-1.1	5.88	5.88	0.94601	.	0.061950	0.64402	D	0.000012	T	0.76828	0.4042	M	0.64404	1.975	0.42518	D	0.992997	B;B	0.27140	0.096;0.169	B;B	0.23419	0.046;0.037	T	0.73487	-0.3967	10	0.45353	T	0.12	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	358;538	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	538;371;358	ENSP00000342952:R538H;ENSP00000444803:R358H	ENSP00000342952:R538H	R	+	2	0	ADCY2	7766003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.967000	0.56802	2.777000	0.95525	0.551000	0.68910	CGC		0.303	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		26	126	0	0	0	1	0	26	126					A	7713003	G	A	7713003	3	1	79	1	0	0	0	0	1	0	0	0	294	1087	38	1	1655	1	ADCY2	5	7713003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	961795	7713003	173202257	5954	16271											
ADCY2	108	broad.mit.edu	37	chr5	7717276	7717276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttcatatagaaccaaGtcacaaaagaagagatttga	6	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.K363K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	543					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAGAACCAAGTCACAAAAGA	0.264																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1627-1629)aaG>aaA		adenylate cyclase 2 (brain)							83	88	86					5																	7717276		2202	4299	6501	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717276G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1629G>A	5.37:g.7717276G>A						RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.K363K	p.K543K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			12	1718	+			543					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1629G>A	CCDS3872.2																																																																																				0.264	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		44	277	0	0	0	1	0	44	277					A	7717276	G	A	7717276	2	1	79	1	0	0	0	0	0	0	0	1	294	1020	36	2		2	ADCY2	5	7717276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4273	7717276	173197984	5955	16272											
C5orf49	134121	broad.mit.edu	37	chr5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacgtcagcactccaaccgGcctctcctgttcctggtgaa	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000399810.2	-	3	745	c.277C>A	c.(277-279)Ccg>Acg	p.P93T	C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(277-279)Ccg>Acg		chromosome 5 open reading frame 49							122	130	128					5																	7832130		2072	4214	6286	SO:0001583	missense	134121							g.chr5:7832130G>T		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.277C>A	5.37:g.7832130G>T	ENSP00000382708:p.Pro93Thr					C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	p.P93T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			3	745	-			93						Missense_Mutation	SNP	ENST00000399810.2	37	c.277C>A	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727191	0.03158	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30448	1.53;1.53	4.72	3.78	0.43462	.	.	.	.	.	T	0.17066	0.0410	N	0.20685	0.6	0.32611	N	0.524627	B	0.17465	0.022	B	0.15052	0.012	T	0.20009	-1.0288	9	0.06494	T	0.89	-30.4253	10.888	0.46978	0.0:0.0:0.7548:0.2452	.	93	A4QMS7	CE049_HUMAN	T	93;91	ENSP00000382708:P93T;ENSP00000426019:P91T	ENSP00000382708:P93T	P	-	1	0	C5orf49	7885130	1.000000	0.71417	0.702000	0.30337	0.130000	0.20726	1.711000	0.37930	0.949000	0.37715	0.555000	0.69702	CCG		0.567	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		124	660	1	0	1.49341e-58	1	1.8736e-58	124	660					T	7832130	G	T	7832130	3	4	79	1	0	0	0	0	1	0	0	0	2314	1203	42	3	170	3	C5orf49	5	7832130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114854	7832130	173083130	5956	16273											
FASTKD3	79072	broad.mit.edu	37	chr5	7861322	7861322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagcttctttccccagTaagtgtttgctattggagca	8	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	608	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCCCAGTAAGTGTTTGC	0.328																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1822-1824)ttA>ttG		FAST kinase domains 3							136	135	135					5																	7861322		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861322T>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1824A>G	5.37:g.7861322T>C						MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	p.L608L	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			6	1960	-			608			RAP.		Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1824A>G	CCDS3873.1																																																																																				0.328	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		104	459	0	0	0	1	0	104	459					C	7861322	T	C	7861322	2	2	79	1	0	0	0	0	0	0	0	1	5712	1635	57	4		4	FASTKD3	5	7861322	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29192	7861322	173053938	5957	16274											
FASTKD3	79072	broad.mit.edu	37	chr5	7866895	7866895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaatgagtgaatagcacGttttccagctttctaaataa	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATAGCACGTTTTCCAGCT	0.353																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1300-1302)aaC>aaT		FAST kinase domains 3							55	57	56					5																	7866895		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7866895G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1302C>T	5.37:g.7866895G>A						MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.N434N	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1438	-			434					Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1302C>T	CCDS3873.1																																																																																				0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		62	289	0	0	0	1	0	62	289					A	7866895	G	A	7866895	2	1	79	1	0	0	0	0	0	0	0	1	5712	1136	40	1		1	FASTKD3	5	7866895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5573	7866895	173048365	5958	16275											
FASTKD3	79072	broad.mit.edu	37	chr5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatgcttgactttgatcaaGaaccaccagggcagtgagca	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	306					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTGATCAAGAACCACCAGG	0.388																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(916-918)Ctt>Att		FAST kinase domains 3							86	97	93					5																	7867281		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867281G>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.916C>A	5.37:g.7867281G>T	ENSP00000264669:p.Leu306Ile					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.L306I	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1052	-			306					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.916C>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548702	0.65311	.	.	ENSG00000124279	ENST00000264669	T	0.16897	2.31	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.35895	-0.9770	10	0.42905	T	0.14	-24.8401	18.1841	0.89788	0.0:0.0:1.0:0.0	.	306	Q14CZ7	FAKD3_HUMAN	I	306	ENSP00000264669:L306I	ENSP00000264669:L306I	L	-	1	0	FASTKD3	7920281	1.000000	0.71417	0.169000	0.22859	0.634000	0.38068	7.015000	0.76387	2.506000	0.84524	0.655000	0.94253	CTT		0.388	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		103	455	1	0	1.14904e-54	1	1.4347e-54	103	455					T	7867281	G	T	7867281	3	4	79	1	0	0	0	0	1	0	0	0	5712	942	33	3	1096	3	FASTKD3	5	7867281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	7867281	173047979	5959	16276											
FASTKD3	79072	broad.mit.edu	37	chr5	7867410	7867410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagtacatgcctgcaAgattctataaagggccacaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867410A>C	ENST00000264669.5	-	2	923	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	263					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGCCTGCAAGATTCTATAA	0.353																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(787-789)Ttg>Gtg		FAST kinase domains 3							80	88	85					5																	7867410		2201	4300	6501	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867410A>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.787T>G	5.37:g.7867410A>C	ENSP00000264669:p.Leu263Val					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.L263V	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	923	-			263					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.787T>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810045	0.50421	.	.	ENSG00000124279	ENST00000264669	T	0.38401	1.14	4.85	-0.21	0.13176	.	0.075761	0.53938	D	0.000053	T	0.45637	0.1352	M	0.76002	2.32	0.33263	D	0.560042	D	0.63880	0.993	P	0.53401	0.725	T	0.58989	-0.7538	10	0.54805	T	0.06	-6.9548	9.9157	0.41432	0.5983:0.0:0.4017:0.0	.	263	Q14CZ7	FAKD3_HUMAN	V	263	ENSP00000264669:L263V	ENSP00000264669:L263V	L	-	1	2	FASTKD3	7920410	0.589000	0.26807	0.029000	0.17559	0.975000	0.68041	0.854000	0.27791	-0.258000	0.09446	0.528000	0.53228	TTG		0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		9	525	0	0	0	1	0	9	525					C	7867410	A	C	7867410	3	2	79	1	0	0	0	0	1	0	0	0	5712	69	3	4	1225	4	FASTKD3	5	7867410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129	7867410	173047850	5960	16277											
FASTKD3	79072	broad.mit.edu	37	chr5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaccaagggcacagacGctccttgactaccttgtgaa	8	13	0	3	rs540585802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCACAGACGCTCCTTGACT	0.408																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(118-120)Cgt>Tgt		FAST kinase domains 3							94	102	99					5																	7868079		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868079G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.118C>T	5.37:g.7868079G>A	ENSP00000264669:p.Arg40Cys					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.R40C	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	254	-			40					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.118C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990783	0.18966	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24908	1.83;1.83;1.83	4.79	-0.638	0.11500	.	2.565830	0.01078	N	0.004921	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.42905	T	0.14	-0.6029	3.6307	0.08130	0.3878:0.0:0.432:0.1802	.	40	Q14CZ7	FAKD3_HUMAN	C	40;40;23	ENSP00000264669:R40C;ENSP00000426008:R40C;ENSP00000422443:R23C	ENSP00000264669:R40C	R	-	1	0	FASTKD3	7921079	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.420000	0.21263	-0.001000	0.14495	-0.137000	0.14449	CGT		0.408	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		40	383	0	0	0	1	0	40	383					A	7868079	G	A	7868079	3	1	79	1	0	0	0	0	1	0	0	0	5712	1087	38	1	1894	1	FASTKD3	5	7868079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669	7868079	173047181	5961	16278											
MTRR	4552	broad.mit.edu	37	chr5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttccttaagcatgggAtcttaactcatctaaaggtt	7	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	628					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(1882-1884)Atc>Gtc		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						58	63	62					5																	7897209		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7897209A>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1882A>G	5.37:g.7897209A>G	ENSP00000264668:p.Ile628Val					MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	p.I628V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			14	1912	+			628					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1882A>G	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	0.888	-0.726317	0.03158	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86366	-2.11;-2.11	5.4	-3.84	0.04256	Oxidoreductase FAD/NAD(P)-binding (1);	0.686685	0.14816	N	0.296751	T	0.64371	0.2592	N	0.02960	-0.455	0.19300	N	0.99997	B	0.09022	0.002	B	0.12156	0.007	T	0.56141	-0.8028	10	0.02654	T	1	-11.5564	13.6269	0.62170	0.3905:0.0:0.6095:0.0	.	628	Q9UBK8	MTRR_HUMAN	V	628;601	ENSP00000264668:I628V;ENSP00000402510:I601V	ENSP00000264668:I628V	I	+	1	0	MTRR	7950209	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.907000	0.28531	-0.889000	0.03950	0.533000	0.62120	ATC		0.398	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			45	252	0	0	0	1	0	45	252					G	7897209	A	G	7897209	3	3	79	1	0	0	0	0	1	0	0	0	10002	333	12	4	1936	4	MTRR	5	7897209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29130	7897209	173018051	5962	16279											
SEMA5A	9037	broad.mit.edu	37	chr5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttctgagcggcacacctgGaacagttggcgatctccatg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1777-1779)tCc>tTc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							38	42	41					5																	9122771		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122771G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1778C>T	5.37:g.9122771G>A	ENSP00000371936:p.Ser593Phe						p.S593F	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2443	-			593			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1778C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509239	0.85282	.	.	ENSG00000112902	ENST00000382496	T	0.37584	1.19	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60000	-0.7348	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	593	Q13591	SEM5A_HUMAN	F	593	ENSP00000371936:S593F	ENSP00000371936:S593F	S	-	2	0	SEMA5A	9175771	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.587000	0.98229	2.388000	0.81334	0.557000	0.71058	TCC		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			64	262	0	0	0	1	0	64	262					A	9122771	G	A	9122771	3	1	79	1	0	0	0	0	1	0	0	0	14087	1174	41	2	1486	2	SEMA5A	5	9122771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1225562	9122771	171792489	5963	16280											
SEMA5A	9037	broad.mit.edu	37	chr5	9154665	9154665	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtgctcccgcaggcccacGaacaggacactctggctgtg	12	15	1	0	rs377487102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	472	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.F472F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612																																						ENST00000382496.5																			1	Substitution - coding silent(1)	p.F472F(1)	large_intestine(1)	biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1414-1416)ttC>ttT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							84	77	80					5																	9154665		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154665G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1416C>T	5.37:g.9154665G>A							p.F472F	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			12	2081	-			472			Sema.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1416C>T	CCDS3875.1																																																																																				0.612	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			88	379	0	0	0	1	0	88	379					A	9154665	G	A	9154665	2	1	79	1	0	0	0	0	0	0	0	1	14087	1049	37	1		1	SEMA5A	5	9154665	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31894	9154665	171760595	5964	16281											
SEMA5A	9037	broad.mit.edu	37	chr5	9197373	9197373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggcctgcgcgatggcGctcaggttgaagacgcacac	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(973-975)agC>agT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							80	80	80					5																	9197373		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197373G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.975C>T	5.37:g.9197373G>A							p.S325S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1640	-			325			Sema.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.975C>T	CCDS3875.1																																																																																				0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			123	498	0	0	0	1	0	123	498					A	9197373	G	A	9197373	2	1	79	1	0	0	0	0	0	0	0	1	14087	1078	38	1		1	SEMA5A	5	9197373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42708	9197373	171717887	5965	16282											
SEMA5A	9037	broad.mit.edu	37	chr5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccaggcttgagaacagCcatgctataacacaggttcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	9					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGAGAACAGCCATGCTATAA	0.547																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(25-27)tgG>tgA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							111	110	111					5																	9380032		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9380032C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.27G>A	5.37:g.9380032C>T	ENSP00000371936:p.Trp9*					CTD-2201E9.4_ENST00000511310.1_RNA	p.W9*	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			3	692	-			9					D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.27G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079159	0.98048	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.43	5.43	0.79202	.	0.100355	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7345	0.69406	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000371936:W9X	W	-	3	0	SEMA5A	9433032	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.551000	0.86045	0.563000	0.77884	TGG		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			84	453	0	0	0	1	0	84	453					T	9380032	C	T	9380032	4	4	79	1	0	0	0	0	0	1	0	0	14087	740	26	2	3281	2	SEMA5A	5	9380032	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182659	9380032	171535228	5966	16283											
TAS2R1	50834	broad.mit.edu	37	chr5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcagaacacatgatgaattCtatgaagaagataacaatca	7	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGATGAATTCTATGAAGAAG	0.388																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(220-222)Gaa>Taa		taste receptor, type 2, member 1							35	37	36					5																	9629925		2203	4299	6502	SO:0001587	stop_gained	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629925C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.220G>T	5.37:g.9629925C>A	ENSP00000371932:p.Glu74*					CTD-2001E22.1_ENST00000504182.2_RNA	p.E74*	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	538	-			74					Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	37	c.220G>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524497	0.85600	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.85	-0.66	0.11421	.	1.078920	0.07213	N	0.859590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5745	0.22557	0.0:0.3077:0.1431:0.5492	.	.	.	.	X	74	.	.	E	-	1	0	TAS2R1	9682925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.171000	0.10797	-0.137000	0.14449	GAA		0.388	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			38	200	1	0	2.91434e-09	1	3.06361e-09	38	200					A	9629925	C	A	9629925	4	1	79	1	0	0	0	0	0	1	0	0	15617	922	32	3	683	3	TAS2R1	5	9629925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249893	9629925	171285335	5967	16284											
FAM173B	134145	broad.mit.edu	37	chr5	10236629	10236629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatttggcagatccatgCacaccttctcgccaagcgcg	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	135						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413																																						ENST00000511437.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(403-405)gtG>gtA		family with sequence similarity 173, member B							84	82	83					5																	10236629		1861	4112	5973	SO:0001819	synonymous_variant	134145					integral to membrane		g.chr5:10236629C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.405G>A	5.37:g.10236629C>T						FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR	p.V135V	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN			3	417	-			135					B4DT41|B4DXK2|E9PBZ4	Silent	SNP	ENST00000511437.1	37	c.405G>A	CCDS43301.1																																																																																				0.413	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		57	326	0	0	0	1	0	57	326					T	10236629	C	T	10236629	2	4	79	1	0	0	0	0	0	0	0	1	5515	697	25	2		2	FAM173B	5	10236629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606704	10236629	170678631	5968	16285											
FAM173B	134145	broad.mit.edu	37	chr5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactgttgacttcaaaacTtgcaggtagaacatgtcttg	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	25						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463																																						ENST00000511437.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(73-75)Agt>Cgt		family with sequence similarity 173, member B							107	112	110					5																	10239412		1907	4118	6025	SO:0001583	missense	134145					integral to membrane		g.chr5:10239412T>G		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.73A>C	5.37:g.10239412T>G	ENSP00000422338:p.Ser25Arg					FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	p.S25R	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN			2	85	-			25					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.73A>C	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616075	0.28801	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19669	2.13;2.16	5.19	1.41	0.22369	.	1.081510	0.06847	N	0.796684	T	0.20047	0.0482	M	0.61703	1.905	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.004;0.005	T	0.35475	-0.9787	10	0.26408	T	0.33	-6.5071	3.1427	0.06461	0.2791:0.2294:0.0:0.4915	.	25;25	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	25	ENSP00000422338:S25R;ENSP00000420876:S25R	ENSP00000424210:S25R	S	-	1	0	FAM173B	10292412	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.040000	0.13905	0.012000	0.14892	0.533000	0.62120	AGT		0.463	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		106	424	0	0	0	1	0	106	424					G	10239412	T	G	10239412	3	3	79	1	0	0	0	0	1	0	0	0	5515	1609	56	4	644	4	FAM173B	5	10239412	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2783	10239412	170675848	5969	16286											
CCT5	22948	broad.mit.edu	37	chr5	10250488	10250488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctcgccttcgatgaataTgggcgccctttcctcatcat	7	15	2	1	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000511437.1_5'Flank|FAM173B_ENST00000280330.8_5'Flank|CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000515676.1_5'Flank|CCT5_ENST00000503026.1_Intron|FAM173B_ENST00000510047.1_5'Flank|FAM173B_ENST00000510052.1_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	12					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(34-36)taT>taC		chaperonin containing TCP1, subunit 5 (epsilon)		T		1,4405	2.1+/-5.4	0,1,2202	81	63	69		36	5.4	1	5	dbSNP_132	69	0,8600		0,0,4300	no	coding-synonymous	CCT5	NM_012073.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		12/542	10250488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10250488T>C	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.36T>C	5.37:g.10250488T>C						CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000503026.1_Intron	p.Y12Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			1	456	+			12					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.36T>C	CCDS3877.1																																																																																				0.592	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			32	206	0	0	0	1	0	32	206					C	10250488	T	C	10250488	2	2	79	1	0	0	0	0	0	0	0	1	2965	1471	51	4		4	CCT5	5	10250488	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11076	10250488	170664772	5970	16287											
CCT5	22948	broad.mit.edu	37	chr5	10256191	10256191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacctggacaagatcagCgatagcgtccttgttgacat	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000503026.1_Silent_p.S131S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	152					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(454-456)agC>agT		chaperonin containing TCP1, subunit 5 (epsilon)							98	75	83					5																	10256191		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10256191C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.456C>T	5.37:g.10256191C>T						CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000503026.1_Silent_p.S131S	p.S152S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			4	876	+			152					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.456C>T	CCDS3877.1																																																																																				0.483	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			15	131	0	0	0	1	0	15	131					T	10256191	C	T	10256191	2	4	79	1	0	0	0	0	0	0	0	1	2965	767	27	1		1	CCT5	5	10256191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5703	10256191	170659069	5971	16288											
CCT5	22948	broad.mit.edu	37	chr5	10258614	10258614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagcccttcagaaataCgaaaaggagaaatttgaaga	8	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(838-840)taC>taT		chaperonin containing TCP1, subunit 5 (epsilon)							89	85	86					5																	10258614		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10258614C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.840C>T	5.37:g.10258614C>T						CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	p.Y280Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			6	1260	+			280					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.840C>T	CCDS3877.1																																																																																				0.383	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			62	352	0	0	0	1	0	62	352					T	10258614	C	T	10258614	2	4	79	1	0	0	0	0	0	0	0	1	2965	547	19	1		1	CCT5	5	10258614	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2423	10258614	170656646	5972	16289											
CCT5	22948	broad.mit.edu	37	chr5	10261800	10261800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggataaaatgctggtcatCgagcagtgtaagaactccag	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000503026.1_Silent_p.I353I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	374					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(1120-1122)atC>atT		chaperonin containing TCP1, subunit 5 (epsilon)							123	130	128					5																	10261800		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10261800C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1122C>T	5.37:g.10261800C>T						CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000503026.1_Silent_p.I353I	p.I374I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			8	1542	+			374					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.1122C>T	CCDS3877.1																																																																																				0.433	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			154	740	0	0	0	1	0	154	740					T	10261800	C	T	10261800	2	4	79	1	0	0	0	0	0	0	0	1	2965	874	31	1		1	CCT5	5	10261800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3186	10261800	170653460	5973	16290											
MARCH6	10299	broad.mit.edu	37	chr5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggacaatgaggaGgaagatgacgctggtgtgga	20	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	238					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)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(712-714)gaG>gaT		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							135	101	112					5																	10391791		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10391791G>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.714G>T	5.37:g.10391791G>T	ENSP00000274140:p.Glu238Asp					MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	p.E238D	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			7	846	+			238					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.714G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657716	0.29425	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.84;0.83;1.82	6.02	0.565	0.17309	.	0.147552	0.64402	N	0.000012	T	0.17238	0.0414	N	0.03608	-0.345	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	0.06041	-1.0849	10	0.12430	T	0.62	-6.7228	4.8495	0.13530	0.243:0.0:0.2982:0.4588	.	133;190;238	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	D	190;133;238	ENSP00000414643:E190D;ENSP00000425930:E133D;ENSP00000274140:E238D	ENSP00000274140:E238D	E	+	3	2	MARCH6	10444791	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.545000	0.36169	0.130000	0.18549	0.655000	0.94253	GAG		0.557	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		11	183	1	0	3.03607e-14	1	3.29445e-14	11	183					T	10391791	G	T	10391791	3	4	79	1	0	0	0	0	1	0	0	0	9346	991	35	3	740	3	MARCH6	5	10391791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129991	10391791	170523469	5974	16291											
CTNND2	1501	broad.mit.edu	37	chr5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcggtaggggtccGcgtaattggaggctgggccg	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1498-1500)gCg>gTg		catenin (cadherin-associated protein), delta 2							82	86	85					5																	11346613		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346613G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1499C>T	5.37:g.11346613G>A	ENSP00000307134:p.Ala500Val					CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V	p.A500V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1688	-			500					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1499C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529764	0.85706	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80393	-1.22;-1.28;-1.25;-1.37;-1.26	5.8	5.8	0.92144	.	0.287190	0.32015	N	0.006716	T	0.73241	0.3562	L	0.44542	1.39	0.58432	D	0.999994	B;B;P	0.48998	0.384;0.196;0.918	B;B;B	0.33799	0.026;0.017;0.17	T	0.75365	-0.3343	10	0.39692	T	0.17	-14.6084	20.1139	0.97919	0.0:0.0:1.0:0.0	.	163;67;500	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	500;500;409;67;163	ENSP00000307134:A500V;ENSP00000352661:A500V;ENSP00000426510:A409V;ENSP00000391155:A67V;ENSP00000426887:A163V	ENSP00000307134:A500V	A	-	2	0	CTNND2	11399613	1.000000	0.71417	0.967000	0.41034	0.976000	0.68499	5.153000	0.64888	2.763000	0.94921	0.585000	0.79938	GCG		0.662	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		67	631	0	0	0	1	0	67	631					A	11346613	G	A	11346613	3	1	79	1	0	0	0	0	1	0	0	0	4031	1087	38	1	2234	1	CTNND2	5	11346613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	954822	11346613	169568647	5975	16292											
CTNND2	1501	broad.mit.edu	37	chr5	11384844	11384844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagtgcttgctgtactgCtcggacgcgtggaccaggcg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	370					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTACTGCTCGGACGCGT	0.672																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1108-1110)gaG>gaA		catenin (cadherin-associated protein), delta 2							54	46	49					5																	11384844		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384844C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1110G>A	5.37:g.11384844C>T						CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron	p.E370E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			7	1299	-			370					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1110G>A	CCDS3881.1																																																																																				0.672	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		27	109	0	0	0	1	0	27	109					T	11384844	C	T	11384844	2	4	79	1	0	0	0	0	0	0	0	1	4031	796	28	2		2	CTNND2	5	11384844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38231	11384844	169530416	5976	16293											
CTNND2	1501	broad.mit.edu	37	chr5	11384997	11384997	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccggccgaggacacgacGatgttgatgggcgagctggt	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'Flank	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	319					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGACACGACGATGTTGATGG	0.716																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(955-957)atC>atT		catenin (cadherin-associated protein), delta 2							68	73	72					5																	11384997		2198	4299	6497	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384997G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.957C>T	5.37:g.11384997G>A						CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000503622.1_Intron	p.I319I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			7	1146	-			319					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.957C>T	CCDS3881.1																																																																																				0.716	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		24	93	0	0	0	1	0	24	93					A	11384997	G	A	11384997	2	1	79	1	0	0	0	0	0	0	0	1	4031	1048	37	1		1	CTNND2	5	11384997	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153	11384997	169530263	5977	16294											
DNAH5	1767	broad.mit.edu	37	chr5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttcctcttgtcccagCcagcaccttcaagatataag	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13630-13632)gGc>gAc		dynein, axonemal, heavy chain 5							196	186	189					5																	13700841		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700841C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13631G>A	5.37:g.13700841C>T	ENSP00000265104:p.Gly4544Asp						p.G4544D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13735	-	Lung NSC(4;0.00476)		4544					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13631G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	5.07	0.68467	Dynein heavy chain (1);	0.156736	0.56097	D	0.000027	T	0.26882	0.0658	M	0.80982	2.52	0.58432	D	0.999995	P	0.44816	0.844	P	0.55749	0.783	T	0.02138	-1.1207	10	0.32370	T	0.25	.	17.1138	0.86683	0.0:0.8734:0.1266:0.0	.	4544	Q8TE73	DYH5_HUMAN	D	4544	ENSP00000265104:G4544D	ENSP00000265104:G4544D	G	-	2	0	DNAH5	13753841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.966000	0.56795	1.488000	0.48433	0.650000	0.86243	GGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		129	716	0	0	0	1	0	129	716					T	13700841	C	T	13700841	3	4	79	1	0	0	0	0	1	0	0	0	4620	739	26	2	251	2	DNAH5	5	13700841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315844	13700841	167214419	5978	16295											
DNAH5	1767	broad.mit.edu	37	chr5	13762877	13762877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaaagaaggaagccataGctttcgtccaggaacaaaga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13762877G>T	ENST00000265104.4	-	60	10339	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3412	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCCATAGCTTTCGTCCA	0.458									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10234-10236)gCt>gAt		dynein, axonemal, heavy chain 5							84	82	83					5																	13762877		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762877G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10235C>A	5.37:g.13762877G>T	ENSP00000265104:p.Ala3412Asp					DNAH5_ENST00000504001.3_5'UTR	p.A3412D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			60	10339	-	Lung NSC(4;0.00476)		3412			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10235C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411584	0.83340	.	.	ENSG00000039139	ENST00000265104	T	0.74106	-0.81	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94723	0.7902	10	0.72032	D	0.01	.	18.9925	0.92798	0.0:0.0:1.0:0.0	.	3412	Q8TE73	DYH5_HUMAN	D	3412	ENSP00000265104:A3412D	ENSP00000265104:A3412D	A	-	2	0	DNAH5	13815877	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	9.807000	0.99171	2.494000	0.84150	0.313000	0.20887	GCT		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	314	1	0	0.0167234	1	0.0167961	12	314					T	13762877	G	T	13762877	3	4	79	1	0	0	0	0	1	0	0	0	4620	971	34	3	3719	3	DNAH5	5	13762877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62036	13762877	167152383	5979	16296											
DNAH5	1767	broad.mit.edu	37	chr5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacgtgcgaacagtggCgatgtccgaaggcctgatgg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3307	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3307T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAACAGTGGCGATGTCCGAA	0.522									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.A3307T(1)	large_intestine(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9919-9921)Gcc>Acc		dynein, axonemal, heavy chain 5							95	92	93					5																	13766267		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766267C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9919G>A	5.37:g.13766267C>T	ENSP00000265104:p.Ala3307Thr					DNAH5_ENST00000504001.3_Intron	p.A3307T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10023	-	Lung NSC(4;0.00476)		3307			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9919G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127535	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.69685	-0.42	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.052284	0.85682	N	0.000000	T	0.64886	0.2639	L	0.49778	1.585	0.80722	D	1	B	0.17038	0.02	B	0.25884	0.064	T	0.58261	-0.7667	10	0.24483	T	0.36	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3307	Q8TE73	DYH5_HUMAN	T	3307	ENSP00000265104:A3307T	ENSP00000265104:A3307T	A	-	1	0	DNAH5	13819267	1.000000	0.71417	0.284000	0.24805	0.684000	0.39900	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	GCC		0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		91	530	0	0	0	1	0	91	530					T	13766267	C	T	13766267	3	4	79	1	0	0	0	0	1	0	0	0	4620	768	27	1	4039	1	DNAH5	5	13766267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3390	13766267	167148993	5980	16297											
TRIO	7204	broad.mit.edu	37	chr5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaacagctggctcagActggggaatgtgaccccgaa	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000537187.1_Missense_Mutation_p.T637A|TRIO_ENST00000509967.2_Missense_Mutation_p.T588A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	637					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGCTCAGACTGGGGAATG	0.483																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1909-1911)Act>Gct		trio Rho guanine nucleotide exchange factor							98	91	93					5																	14336699		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14336699A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1909A>G	5.37:g.14336699A>G	ENSP00000339299:p.Thr637Ala					TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	p.T637A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			11	1933	+	Lung NSC(4;0.000742)		637					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1909A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717746	0.68844	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44083	1.03;1.03;0.93	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.35593	1.075	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.79784	0.983;0.993;0.989	T	0.56944	-0.7895	10	0.62326	D	0.03	.	15.0232	0.71647	1.0:0.0:0.0:0.0	.	588;637;637	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	637;637;588;324	ENSP00000339299:T637A;ENSP00000446348:T637A;ENSP00000445592:T588A	ENSP00000339299:T637A	T	+	1	0	TRIO	14389699	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.339000	0.96797	1.946000	0.56461	0.454000	0.30748	ACT		0.483	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		66	262	0	0	0	1	0	66	262					G	14336699	A	G	14336699	3	3	79	1	0	0	0	0	1	0	0	0	16605	275	10	4	1951	4	TRIO	5	14336699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	570432	14336699	166578561	5981	16298											
TRIO	7204	broad.mit.edu	37	chr5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttcggcgtgttgagcagCgaaagatcctactggacatg	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	666					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTGAGCAGCGAAAGATCCT	0.498																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1996-1998)Cga>Tga		trio Rho guanine nucleotide exchange factor							103	89	94					5																	14336786		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14336786C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1996C>T	5.37:g.14336786C>T	ENSP00000339299:p.Arg666*					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	p.R666*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			11	2020	+	Lung NSC(4;0.000742)		666					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.1996C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	40	8.039053	0.98624	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4675	0.61263	0.303:0.697:0.0:0.0	.	.	.	.	X	666;666;617;353	.	ENSP00000339299:R666X	R	+	1	2	TRIO	14389786	1.000000	0.71417	0.775000	0.31657	0.959000	0.62525	3.196000	0.51020	1.211000	0.43351	0.650000	0.86243	CGA		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		38	230	0	0	0	1	0	38	230					T	14336786	C	T	14336786	4	4	79	1	0	0	0	0	0	1	0	0	16605	760	27	1	2038	1	TRIO	5	14336786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	14336786	166578474	5982	16299											
TRIO	7204	broad.mit.edu	37	chr5	14369491	14369491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcacaggtctgcagCgtcctcgagagcctggaaca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000537187.1_Silent_p.S1025S|TRIO_ENST00000509967.2_Silent_p.S976S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGTCTGCAGCGTCCTCGAGA	0.587																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3073-3075)agC>agT		trio Rho guanine nucleotide exchange factor							67	71	70					5																	14369491		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14369491C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3075C>T	5.37:g.14369491C>T						TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	p.S1025S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			18	3099	+	Lung NSC(4;0.000742)		1025					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3075C>T	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		51	289	0	0	0	1	0	51	289					T	14369491	C	T	14369491	2	4	79	1	0	0	0	0	0	0	0	1	16605	767	27	1		1	TRIO	5	14369491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32705	14369491	166545769	5983	16300											
TRIO	7204	broad.mit.edu	37	chr5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctcagaggtgaaacttCgagatgctgctcatgaactt	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3826-3828)Cga>Tga		trio Rho guanine nucleotide exchange factor							71	75	74					5																	14387901		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387901C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3826C>T	5.37:g.14387901C>T	ENSP00000339299:p.Arg1276*					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	p.R1276*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			23	3850	+	Lung NSC(4;0.000742)		1276					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.3826C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	43	10.396506	0.99397	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9732	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1276;1227;963	.	ENSP00000339299:R1276X	R	+	1	2	TRIO	14440901	0.999000	0.42202	0.947000	0.38551	0.998000	0.95712	2.755000	0.47540	2.740000	0.93945	0.650000	0.86243	CGA		0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		49	179	0	0	0	1	0	49	179					T	14387901	C	T	14387901	4	4	79	1	0	0	0	0	0	1	0	0	16605	876	31	1	3916	1	TRIO	5	14387901	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18410	14387901	166527359	5984	16301											
TRIO	7204	broad.mit.edu	37	chr5	14406776	14406776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagaacacgctggacagcGataaggtgagtcactgccgg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	ENST00000344204.4	+	33	4978	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1652					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGACAGCGATAAGGTGAG	0.572																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4954-4956)Gat>Aat		trio Rho guanine nucleotide exchange factor							86	74	78					5																	14406776		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14406776G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4954G>A	5.37:g.14406776G>A	ENSP00000339299:p.Asp1652Asn					TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			33	4978	+	Lung NSC(4;0.000742)		1652					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4954G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320191	0.81469	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.13657	2.57;2.57	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.68952	2.095	0.80722	D	1	P;D	0.76494	0.625;0.999	B;D	0.75020	0.194;0.985	T	0.06516	-1.0822	10	0.59425	D	0.04	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1652;1652	O75962-5;O75962	.;TRIO_HUMAN	N	1652;1652;1339	ENSP00000339299:D1652N;ENSP00000446348:D1652N	ENSP00000339299:D1652N	D	+	1	0	TRIO	14459776	1.000000	0.71417	0.403000	0.26384	0.736000	0.42039	9.826000	0.99387	2.571000	0.86741	0.650000	0.86243	GAT		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		90	290	0	0	0	1	0	90	290					A	14406776	G	A	14406776	3	1	79	1	0	0	0	0	1	0	0	0	16605	1058	37	1	5084	1	TRIO	5	14406776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18875	14406776	166508484	5985	16302											
TRIO	7204	broad.mit.edu	37	chr5	14482807	14482807	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttcctctttgagcagatCgtcatattcagcgaaccact	6	12	4	2	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6580-6582)atC>atT		trio Rho guanine nucleotide exchange factor		C		0,4406		0,0,2203	124	119	121		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14482807C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6582C>T	5.37:g.14482807C>T						TRIO_ENST00000537187.1_Silent_p.I2194I	p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			46	6606	+	Lung NSC(4;0.000742)		2194			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6582C>T	CCDS3883.1																																																																																				0.478	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		98	499	0	0	0	1	0	98	499					T	14482807	C	T	14482807	2	4	79	1	0	0	0	0	0	0	0	1	16605	874	31	1		1	TRIO	5	14482807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76031	14482807	166432453	5986	16303											
TRIO	7204	broad.mit.edu	37	chr5	14485295	14485295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatctagtccaagtgtcCggcaaacttggatccatgaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485295C>T	ENST00000344204.4	+	47	6799	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2259	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAAGTGTCCGGCAAACTTG	0.403																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6775-6777)Cgg>Tgg		trio Rho guanine nucleotide exchange factor							127	121	123					5																	14485295		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485295C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6775C>T	5.37:g.14485295C>T	ENSP00000339299:p.Arg2259Trp					TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6799	+	Lung NSC(4;0.000742)		2259			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6775C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528213	0.64860	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.12774	2.65;2.65	5.34	4.48	0.54585	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.123877	0.56097	D	0.000035	T	0.32704	0.0838	M	0.72894	2.215	0.49051	D	0.999743	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.548	T	0.04481	-1.0948	10	0.87932	D	0	.	8.9607	0.35845	0.1471:0.7786:0.0:0.0743	.	2259;2259	O75962-5;O75962	.;TRIO_HUMAN	W	2259;2259;1946	ENSP00000339299:R2259W;ENSP00000446348:R2259W	ENSP00000339299:R2259W	R	+	1	2	TRIO	14538295	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.479000	0.45197	1.260000	0.44134	-0.142000	0.14014	CGG		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		88	448	0	0	0	1	0	88	448					T	14485295	C	T	14485295	3	4	79	1	0	0	0	0	1	0	0	0	16605	643	23	1	6961	1	TRIO	5	14485295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	14485295	166429965	5987	16304											
TRIO	7204	broad.mit.edu	37	chr5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaaaccagcgcaatttTttaaatggtaatgtgtgttc	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGCAATTTTTTAAATGGTA	0.383																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6826-6828)ttT>ttG		trio Rho guanine nucleotide exchange factor							66	69	68					5																	14485348		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485348T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6828T>G	5.37:g.14485348T>G	ENSP00000339299:p.Phe2276Leu					TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6852	+	Lung NSC(4;0.000742)		2276					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6828T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199716	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.39229	1.09;1.09	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.64080	1.96	0.47374	D	0.999408	D;D	0.64830	0.994;0.992	P;D	0.69654	0.855;0.965	T	0.52540	-0.8562	10	0.11794	T	0.64	.	11.2948	0.49272	0.0:0.073:0.0:0.927	.	2276;2276	O75962-5;O75962	.;TRIO_HUMAN	L	2276;2276;1963	ENSP00000339299:F2276L;ENSP00000446348:F2276L	ENSP00000339299:F2276L	F	+	3	2	TRIO	14538348	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.046000	0.41260	2.023000	0.59567	0.528000	0.53228	TTT		0.383	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		81	322	0	0	0	1	0	81	322					G	14485348	T	G	14485348	3	3	79	1	0	0	0	0	1	0	0	0	16605	1838	64	4	7014	4	TRIO	5	14485348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53	14485348	166429912	5988	16305											
FAM105A	54491	broad.mit.edu	37	chr5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttatattcagggcacaAgctgaaatggtaggtcactg	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(214-216)aAg>aGg		family with sequence similarity 105, member A							182	172	175					5																	14601224		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14601224A>G		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.215A>G	5.37:g.14601224A>G	ENSP00000274217:p.Lys72Arg						p.K72R	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			2	335	+	Lung NSC(4;0.00592)		72					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.215A>G	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694862	0.00731	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	5.35	-0.0825	0.13697	.	0.956413	0.08727	N	0.902566	T	0.04588	0.0125	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	10	0.07175	T	0.84	-3.3211	4.9693	0.14108	0.4692:0.0:0.384:0.1468	.	72	Q9NUU6	F105A_HUMAN	R	72	ENSP00000274217:K72R	ENSP00000274217:K72R	K	+	2	0	FAM105A	14654224	0.229000	0.23729	0.020000	0.16555	0.167000	0.22549	1.067000	0.30616	-0.256000	0.09473	-0.408000	0.06270	AAG		0.393	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		116	627	0	0	0	1	0	116	627					G	14601224	A	G	14601224	3	3	79	1	0	0	0	0	1	0	0	0	5408	72	3	4	221	4	FAM105A	5	14601224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115876	14601224	166314036	5989	16306											
FAM105B	90268	broad.mit.edu	37	chr5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgttccttcttgcctatgCtgtgcgccacaccatccagg	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		297	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTTGCCTATGCTGTGCGCCAC	0.507																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(889-891)gCt>gAt		family with sequence similarity 105, member B							151	153	153					5																	14692988		2046	4198	6244	SO:0001583	missense	90268							g.chr5:14692988C>A																												ENST00000284274.4:c.890C>A	5.37:g.14692988C>A	ENSP00000284274:p.Ala297Asp						p.A297D	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			7	968	+	Lung NSC(4;0.00696)		297					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.890C>A	CCDS43302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.366881|5.366881	0.95900|0.95900	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19669|.	2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.052923|.	0.85682|.	D|.	0.000000|.	T|.	0.76183|.	0.3952|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.74340|.	-0.3697|.	10|.	0.72032|.	D|.	0.01|.	-15.212|-15.212	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q96BN8|.	F105B_HUMAN|.	D|X	297|28	ENSP00000284274:A297D|.	ENSP00000284274:A297D|.	A|C	+|+	2|3	0|2	FAM105B|FAM105B	14745988|14745988	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.488000|7.488000	0.81441|0.81441	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.507	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			14	465	1	0	9.31168e-06	1	9.55451e-06	14	465					A	14692988	C	A	14692988	3	1	79	1	0	0	0	0	1	0	0	0	5409	797	28	3	916	3	FAM105B	5	14692988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91764	14692988	166222272	5990	16307											
FBXL7	23194	broad.mit.edu	37	chr5	15936593	15936593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatcagcttgacccgGgaggcctccattaaactgtc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000329673.7_Silent_p.R246R|FBXL7_ENST00000510662.1_Silent_p.R211R|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					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)			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						GCTTGACCCGGGAGGCCTCCA	0.577																																						ENST00000504595.1																			0				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						c.(772-774)cgG>cgT		F-box and leucine-rich repeat protein 7							55	55	55					5																	15936593		2112	4222	6334	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936593G>T	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.774G>T	5.37:g.15936593G>T						FBXL7_ENST00000329673.7_Silent_p.R246R|FBXL7_ENST00000510662.1_Silent_p.R211R	p.R258R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1255	+			258					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.774G>T	CCDS54833.1																																																																																				0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		29	172	1	0	2.4375e-19	1	2.7179e-19	29	172					T	15936593	G	T	15936593	2	4	79	1	0	0	0	0	0	0	0	1	5749	1219	43	3		3	FBXL7	5	15936593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1243605	15936593	164978667	5991	16308											
FBXL7	23194	broad.mit.edu	37	chr5	15936764	15936764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcctgaccgacgaaggCctgcgctacctggtgatcta	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000329673.7_Silent_p.G303G|FBXL7_ENST00000510662.1_Silent_p.G268G|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	315					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)			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						CCGACGAAGGCCTGCGCTACC	0.667																																						ENST00000504595.1																			0				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						c.(943-945)ggC>ggT		F-box and leucine-rich repeat protein 7							35	39	38					5																	15936764		2187	4284	6471	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936764C>T	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.945C>T	5.37:g.15936764C>T						FBXL7_ENST00000329673.7_Silent_p.G303G|FBXL7_ENST00000510662.1_Silent_p.G268G	p.G315G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1426	+			315					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.945C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		26	139	0	0	0	1	0	26	139					T	15936764	C	T	15936764	2	4	79	1	0	0	0	0	0	0	0	1	5749	726	26	2		2	FBXL7	5	15936764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	15936764	164978496	5992	16309											
MARCH11	441061	broad.mit.edu	37	chr5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgaactgacccatcacatCggcaggggttcaacaactca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MARCH11_ENST00000505509.1_5'UTR|RP11-19O2.2_ENST00000509037.1_RNA	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	187					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(559-561)cGa>cAa		membrane-associated ring finger (C3HC4) 11							87	84	85					5																	16177968		1901	4127	6028	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177968C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.560G>A	5.37:g.16177968C>T	ENSP00000333181:p.Arg187Gln					MARCH11_ENST00000505509.1_5'UTR	p.R187Q	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			2	759	-			187					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.560G>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309146	0.95629	.	.	ENSG00000183654	ENST00000332432	T	0.55234	0.53	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.56097	U	0.000033	T	0.70413	0.3221	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71196	-0.4664	10	0.72032	D	0.01	-5.0254	19.7964	0.96487	0.0:1.0:0.0:0.0	.	187	A6NNE9	MARHB_HUMAN	Q	187	ENSP00000333181:R187Q	ENSP00000333181:R187Q	R	-	2	0	MARCH11	16230968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	CGA		0.418	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		44	210	0	0	0	1	0	44	210					T	16177968	C	T	16177968	3	4	79	1	0	0	0	0	1	0	0	0	9341	884	31	1	660	1	MARCH11	5	16177968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241204	16177968	164737292	5993	16310											
MYO10	4651	broad.mit.edu	37	chr5	16668425	16668425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctccctctcatcgaccacGatcttatacgtattcgccag	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000505695.1_Silent_p.I1351I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478																																						ENST00000513610.1																			1	Substitution - coding silent(1)	p.I2012I(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(6034-6036)atC>atT		myosin X							151	154	153					5																	16668425		2008	4173	6181	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668425G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6036C>T	5.37:g.16668425G>A						MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I	p.I2012I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			40	6490	-			2012			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.6036C>T	CCDS54834.1																																																																																				0.478	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		87	555	0	0	0	1	0	87	555					A	16668425	G	A	16668425	2	1	79	1	0	0	0	0	0	0	0	1	10103	1048	37	1		1	MYO10	5	16668425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	490457	16668425	164246835	5994	16311											
MYO10	4651	broad.mit.edu	37	chr5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggagtcgcagggcagcaaGaacctggaggttttcttccg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1830	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGG	0.572																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5488-5490)Ctt>Att		myosin X							37	43	41					5																	16671030		2032	4189	6221	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671030G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5488C>A	5.37:g.16671030G>T	ENSP00000421280:p.Leu1830Ile					MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I	p.L1830I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	5942	-			1830			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5488C>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939936	0.52972	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.94411	0.8202	M	0.85859	2.78	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94752	0.7928	9	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	709;1470;1830	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1830;1169;1187;1169;1187	ENSP00000421280:L1830I;ENSP00000425051:L1169I;ENSP00000274203:L1187I;ENSP00000421170:L1169I;ENSP00000391106:L1187I	ENSP00000274203:L1187I	L	-	1	0	MYO10	16724030	1.000000	0.71417	0.151000	0.22473	0.319000	0.28217	4.901000	0.63259	2.586000	0.87340	0.563000	0.77884	CTT		0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		25	140	1	0	2.79863e-10	1	2.965e-10	25	140					T	16671030	G	T	16671030	3	4	79	1	0	0	0	0	1	0	0	0	10103	942	33	3	700	3	MYO10	5	16671030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2605	16671030	164244230	5995	16312											
MYO10	4651	broad.mit.edu	37	chr5	16673839	16673839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcttgcaggagccgccGccatggcaatagaccgtgga	14	11	1	2	rs374259243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000505695.1_Silent_p.G1047G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1708	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16999	0.001		0.0	False		,,,				2504	0.0					ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5122-5124)ggC>ggT		myosin X		G		1,3993		0,1,1996	75	78	77		5124	-8.7	0.1	5		77	0,8336		0,0,4168	no	coding-synonymous	MYO10	NM_012334.2		0,1,6164	AA,AG,GG		0.0,0.025,0.0081		1708/2059	16673839	1,12329	1997	4168	6165	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16673839G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5124C>T	5.37:g.16673839G>A						MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G	p.G1708G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			36	5578	-			1708			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.5124C>T	CCDS54834.1																																																																																				0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		36	171	0	0	0	1	0	36	171					A	16673839	G	A	16673839	2	1	79	1	0	0	0	0	0	0	0	1	10103	1074	38	1		1	MYO10	5	16673839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2809	16673839	164241421	5996	16313											
MYO10	4651	broad.mit.edu	37	chr5	16689992	16689992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcggccataatgatgtcGatcccattctccttggtggt	9	11	1	1	rs371384622	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000505695.1_Silent_p.I618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1279	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAATGATGTCGATCCCATTCT	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3835-3837)atC>atT		myosin X							186	180	182					5																	16689992		2070	4210	6280	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689992G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3837C>T	5.37:g.16689992G>A						MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I	p.I1279I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4291	-			1279			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3837C>T	CCDS54834.1																																																																																				0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		32	180	0	0	0	1	0	32	180					A	16689992	G	A	16689992	2	1	79	1	0	0	0	0	0	0	0	1	10103	1048	37	1		1	MYO10	5	16689992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	16689992	164225268	5997	16314											
MYO10	4651	broad.mit.edu	37	chr5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggaggagcccccccCttttttgtggagccagcctt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGG	0.557																																						ENST00000513610.1																			5	Substitution - Missense(5)	p.G1223R(5)	endometrium(4)|prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3667-3669)Ggg>Agg		myosin X							81	82	82					5																	16694613		1898	4107	6005	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694613C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3667G>A	5.37:g.16694613C>T	ENSP00000421280:p.Gly1223Arg					MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R	p.G1223R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4121	-			1223			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3667G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626178	0.66901	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.28433	0.0703	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.04752	-1.0929	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	102;864;1223	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1223;562;580;562;580	ENSP00000421280:G1223R;ENSP00000425051:G562R;ENSP00000274203:G580R;ENSP00000421170:G562R;ENSP00000391106:G580R	ENSP00000274203:G580R	G	-	1	0	MYO10	16747613	1.000000	0.71417	0.355000	0.25773	0.060000	0.15804	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GGG		0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		86	473	0	0	0	1	0	86	473					T	16694613	C	T	16694613	3	4	79	1	0	0	0	0	1	0	0	0	10103	681	24	2	2569	2	MYO10	5	16694613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4621	16694613	164220647	5998	16315											
MYO10	4651	broad.mit.edu	37	chr5	16701471	16701471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgagtggccgtgctcGctggggttgggggagtcctt	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Silent_p.S368S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000505695.1_Silent_p.S350S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1011					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCCGTGCTCGCTGGGGTTGG	0.612																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3031-3033)agC>agT		myosin X							41	47	45					5																	16701471		2168	4257	6425	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701471G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3033C>T	5.37:g.16701471G>A						MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000274203.9_Silent_p.S368S	p.S1011S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3487	-			1011					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3033C>T	CCDS54834.1																																																																																				0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		25	181	0	0	0	1	0	25	181					A	16701471	G	A	16701471	2	1	79	1	0	0	0	0	0	0	0	1	10103	1078	38	1		1	MYO10	5	16701471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6858	16701471	164213789	5999	16316											
MYO10	4651	broad.mit.edu	37	chr5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcttctcccctgaggaAcattgatctctgggtcaaag	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	379	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCCTGAGGAACATTGATCTC	0.488																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(1135-1137)Ttc>Ctc		myosin X							131	129	130					5																	16766233		1960	4168	6128	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16766233A>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1135T>C	5.37:g.16766233A>G	ENSP00000421280:p.Phe379Leu						p.F379L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			11	1589	-			379			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1135T>C	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873472	0.51695	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.86694	-2.16;-2.16	5.05	1.2	0.21068	Myosin head, motor domain (2);	.	.	.	.	T	0.72724	0.3496	N	0.12471	0.22	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.59204	-0.7498	9	0.48119	T	0.1	.	6.273	0.20965	0.2545:0.1003:0.0:0.6452	.	20;379	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	379;390	ENSP00000421280:F379L;ENSP00000421309:F390L	ENSP00000421280:F379L	F	-	1	0	MYO10	16819233	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.471000	0.45127	-0.042000	0.13535	0.482000	0.46254	TTC		0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		30	137	0	0	0	1	0	30	137					G	16766233	A	G	16766233	3	3	79	1	0	0	0	0	1	0	0	0	10103	43	2	4	5165	4	MYO10	5	16766233	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64762	16766233	164149027	6000	16317											
BASP1	10409	broad.mit.edu	37	chr5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcggccgcagagcccGccgaggccaaggagggcaag	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	49					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)			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(145-147)Gcc>Acc		brain abundant, membrane attached signal protein 1							17	23	21					5																	17275470		2171	4251	6422	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.chr5:17275470G>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.145G>A	5.37:g.17275470G>A	ENSP00000319281:p.Ala49Thr						p.A49T	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	405	+			49					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.145G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023250	0.07634	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.37235	1.21	4.57	-2.57	0.06248	.	0.106078	0.39687	N	0.001289	T	0.06050	0.0157	N	0.00368	-1.59	0.22811	N	0.998704	B	0.09022	0.002	B	0.11329	0.006	T	0.36915	-0.9728	10	0.02654	T	1	1.1939	5.7382	0.18079	0.4852:0.1426:0.3722:0.0	.	49	P80723	BASP1_HUMAN	T	49	ENSP00000319281:A49T	ENSP00000319281:A49T	A	+	1	0	BASP1	17328470	0.000000	0.05858	0.008000	0.14137	0.730000	0.41778	-0.936000	0.03946	-0.514000	0.06488	0.455000	0.32223	GCC		0.697	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			19	89	0	0	0	1	0	19	89					A	17275470	G	A	17275470	3	1	79	1	0	0	0	0	1	0	0	0	1318	1087	38	1	147	1	BASP1	5	17275470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509237	17275470	163639790	6001	16318											
CDH18	1016	broad.mit.edu	37	chr5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacacagagaagaatagCgattaaggctcctgtactca	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	618					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)			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)					AGAAGAATAGCGATTAAGGCT	0.478																																						ENST00000507958.1																			0				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						c.(1852-1854)Gct>Act		cadherin 18, type 2							64	63	64					5																	19483440		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483440C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1852G>A	5.37:g.19483440C>T	ENSP00000425093:p.Ala618Thr					CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T	p.A618T			Q13634	CAD18_HUMAN			14	2842	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		618					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1852G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321308	0.95682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.74389	2.26	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.74315	-0.3705	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	618	Q13634	CAD18_HUMAN	T	618	ENSP00000371710:A618T;ENSP00000425093:A618T;ENSP00000274170:A618T	.	A	-	1	0	CDH18	19519197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCT		0.478	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		30	170	0	0	0	1	0	30	170					T	19483440	C	T	19483440	3	4	79	1	0	0	0	0	1	0	0	0	3112	768	27	1	528	1	CDH18	5	19483440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2207970	19483440	161431820	6002	16319											
CDH18	1016	broad.mit.edu	37	chr5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgttgaaaaatctgtcgtCttcaacattgtagttgatga	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000507958.1	-	11	2269	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)					AATCTGTCGTCTTCAACATTG	0.348																																						ENST00000507958.1																			0				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						c.(1279-1281)Gac>Aac		cadherin 18, type 2							101	95	97					5																	19544089		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544089C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1279G>A	5.37:g.19544089C>T	ENSP00000425093:p.Asp427Asn					CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N	p.D427N			Q13634	CAD18_HUMAN			11	2269	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		427			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1279G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687736	0.29962	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.09;-0.05	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.455464	0.24516	N	0.037858	T	0.46288	0.1385	N	0.13043	0.29	0.32552	N	0.53228	B;B	0.24317	0.101;0.076	B;B	0.32022	0.139;0.088	T	0.52472	-0.8571	9	.	.	.	.	12.7735	0.57434	0.0:0.9203:0.0:0.0797	.	427;427	B4DHG6;Q13634	.;CAD18_HUMAN	N	427;427;427;427;427;427;373;427	ENSP00000371710:D427N;ENSP00000425093:D427N;ENSP00000274170:D427N;ENSP00000424931:D427N;ENSP00000422138:D427N;ENSP00000427383:D373N;ENSP00000425854:D427N	.	D	-	1	0	CDH18	19579846	1.000000	0.71417	0.929000	0.37066	0.596000	0.36781	4.798000	0.62510	1.312000	0.45043	0.591000	0.81541	GAC		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		47	168	0	0	0	1	0	47	168					T	19544089	C	T	19544089	3	4	79	1	0	0	0	0	1	0	0	0	3112	913	32	2	1113	2	CDH18	5	19544089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60649	19544089	161371171	6003	16320											
CDH18	1016	broad.mit.edu	37	chr5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacttgcccagccatgTctttggcttgaatgactacg	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000507958.1	-	8	1709	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)					CCCAGCCATGTCTTTGGCTTG	0.418																																						ENST00000507958.1																			0				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						c.(718-720)gAc>gCc		cadherin 18, type 2							144	132	136					5																	19612635		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612635T>G	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.719A>C	5.37:g.19612635T>G	ENSP00000425093:p.Asp240Ala					CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A	p.D240A			Q13634	CAD18_HUMAN			8	1709	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		240			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.719A>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746706	0.89663	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91748	0.5410	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	240;240	B4DHG6;Q13634	.;CAD18_HUMAN	A	240;240;240;240;240;240;186;240	ENSP00000371710:D240A;ENSP00000425093:D240A;ENSP00000274170:D240A;ENSP00000424931:D240A;ENSP00000422138:D240A;ENSP00000427383:D186A;ENSP00000425854:D240A	.	D	-	2	0	CDH18	19648392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	GAC		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		54	232	0	0	0	1	0	54	232					G	19612635	T	G	19612635	3	3	79	1	0	0	0	0	1	0	0	0	3112	1667	58	4	1685	4	CDH18	5	19612635	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68546	19612635	161302625	6004	16321											
CDH12	1010	broad.mit.edu	37	chr5	21755864	21755864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggacagggtagctgCtgtcttctattacaacaggg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:21755864C>A	ENST00000382254.1	-	14	2807	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	574	Cadherin 5. {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)			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						AGGGTAGCTGCTGTCTTCTAT	0.453										HNSCC(59;0.17)																												ENST00000382254.1																			0				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						c.(1720-1722)aGc>aTc		cadherin 12, type 2 (N-cadherin 2)							185	153	164					5																	21755864		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755864C>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.1721G>T	5.37:g.21755864C>A	ENSP00000371689:p.Ser574Ile	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I	p.S574I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2807	-			574			Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1721G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984975	0.74474	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54279	0.58;0.58;0.58	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.085006	0.85682	D	0.000000	T	0.75258	0.3825	M	0.91818	3.245	0.47037	D	0.999292	P;P	0.48998	0.828;0.918	P;P	0.54431	0.752;0.601	T	0.81491	-0.0909	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	534;574	B7Z2U6;P55289	.;CAD12_HUMAN	I	574;574;534	ENSP00000423577:S574I;ENSP00000371689:S574I;ENSP00000428786:S534I	ENSP00000371689:S574I	S	-	2	0	CDH12	21791621	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.668000	0.54554	2.572000	0.86782	0.460000	0.39030	AGC		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		12	371	1	0	4.36969e-10	1	4.6211e-10	12	371					A	21755864	C	A	21755864	3	1	79	1	0	0	0	0	1	0	0	0	3107	797	28	3	671	3	CDH12	5	21755864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2143229	21755864	159159396	6005	16322											
CDH12	1010	broad.mit.edu	37	chr5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggctctgtggctaaagTctgctgtggctgtggttgta	14	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					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)			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						GTGGCTAAAGTCTGCTGTGGC	0.453										HNSCC(59;0.17)																												ENST00000382254.1																			0				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						c.(88-90)Act>Cct		cadherin 12, type 2 (N-cadherin 2)							202	202	202					5																	22078698		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078698T>G	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.88A>C	5.37:g.22078698T>G	ENSP00000371689:p.Thr30Pro	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			5	1174	-			30					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.88A>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114372	0.37339	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.46;0.46;0.4	5.57	5.57	0.84162	.	0.200215	0.52532	D	0.000078	T	0.29620	0.0739	N	0.08118	0	0.39251	D	0.964037	P;P	0.38922	0.651;0.651	B;B	0.31614	0.133;0.133	T	0.27191	-1.0081	10	0.25751	T	0.34	.	14.3088	0.66403	0.0:0.0:0.0:1.0	.	30;30	B7Z2U6;P55289	.;CAD12_HUMAN	P	30	ENSP00000423577:T30P;ENSP00000371689:T30P;ENSP00000428786:T30P	ENSP00000371689:T30P	T	-	1	0	CDH12	22114455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.068000	0.64364	2.131000	0.65755	0.454000	0.30748	ACT		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		167	851	0	0	0	1	0	167	851					G	22078698	T	G	22078698	3	3	79	1	0	0	0	0	1	0	0	0	3107	1667	58	4	2340	4	CDH12	5	22078698	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	322834	22078698	158836562	6006	16323											
PRDM9	56979	broad.mit.edu	37	chr5	23509692	23509692	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaggaactataatgcactGattactataggtaacaggaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	61	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAATGCACTGATTACTATAG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(181-183)ctG>ctA		PR domain containing 9							155	144	147					5																	23509692		1868	4113	5981	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509692G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.183G>A	5.37:g.23509692G>A		HNSCC(3;0.000094)					p.L61L	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	365	+			61			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.183G>A	CCDS43307.1																																																																																				0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		91	363	0	0	0	1	0	91	363					A	23509692	G	A	23509692	2	1	79	1	0	0	0	0	0	0	0	1	12510	1277	45	2		2	PRDM9	5	23509692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1430994	23509692	157405568	6007	16324											
PRDM9	56979	broad.mit.edu	37	chr5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaagatgtatagcctgCgagaaagaaagggtcatgca	12	5	1	4	rs181064967	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTATAGCCTGCGAGAAAGAAA	0.458										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(550-552)Cga>Tga		PR domain containing 9							163	168	166					5																	23522454		1932	4156	6088	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522454C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.550C>T	5.37:g.23522454C>T	ENSP00000296682:p.Arg184*	HNSCC(3;0.000094)					p.R184*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	732	+			184					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.550C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532190	0.64972	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	-6.01	0.02199	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7103	13.4028	0.60893	0.8164:0.1836:0.0:0.0	.	.	.	.	X	184	.	ENSP00000296682:R184X	R	+	1	2	PRDM9	23558211	0.469000	0.25846	0.005000	0.12908	0.006000	0.05464	-0.309000	0.08145	-0.881000	0.03992	-1.580000	0.00857	CGA		0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		125	671	0	0	0	1	0	125	671					T	23522454	C	T	23522454	4	4	79	1	0	0	0	0	0	1	0	0	12510	760	27	1	572	1	PRDM9	5	23522454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12762	23522454	157392806	6008	16325											
PRDM9	56979	broad.mit.edu	37	chr5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatttgtaaaggacagtGcagtggacaaggggcacccc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	229					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACAGTGCAGTGGACAA	0.552										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(685-687)Gca>Aca		PR domain containing 9							54	52	53					5																	23522797		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522797G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.685G>A	5.37:g.23522797G>A	ENSP00000296682:p.Ala229Thr	HNSCC(3;0.000094)					p.A229T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	867	+			229					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.685G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198050	0.38806	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.50001	0.76	4.28	-1.93	0.07594	.	0.247922	0.21003	N	0.081821	T	0.28830	0.0715	L	0.42686	1.345	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.7371	3.8134	0.08806	0.1023:0.4634:0.2774:0.1569	.	229	Q9NQV7	PRDM9_HUMAN	T	229;23	ENSP00000296682:A229T	ENSP00000253473:A23T	A	+	1	0	PRDM9	23558554	0.000000	0.05858	0.002000	0.10522	0.906000	0.53458	0.056000	0.14256	-0.259000	0.09432	0.597000	0.82753	GCA		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		36	195	0	0	0	1	0	36	195					A	23522797	G	A	23522797	3	1	79	1	0	0	0	0	1	0	0	0	12510	1319	46	2	711	2	PRDM9	5	23522797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	23522797	157392463	6009	16326											
PRDM9	56979	broad.mit.edu	37	chr5	23526654	23526654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccaaaggacaaatggggaGctgtagagtgggaaaaagaa	14	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23526654G>T	ENST00000296682.3	+	11	1639	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	486					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAATGGGGAGCTGTAGAGTG	0.453										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1456-1458)aGc>aTc		PR domain containing 9							38	38	38					5																	23526654		2079	4224	6303	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526654G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1457G>T	5.37:g.23526654G>T	ENSP00000296682:p.Ser486Ile	HNSCC(3;0.000094)					p.S486I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1639	+			486					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1457G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188363	0.21954	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.71	0.764	0.18465	.	0.346301	0.21154	N	0.079277	T	0.08088	0.0202	L	0.46157	1.445	0.09310	N	1	P	0.50617	0.937	B	0.40329	0.326	T	0.25641	-1.0126	10	0.49607	T	0.09	-1.791	3.9423	0.09333	0.1509:0.2486:0.6005:0.0	.	486	Q9NQV7	PRDM9_HUMAN	I	486;280	ENSP00000296682:S486I	ENSP00000253473:S280I	S	+	2	0	PRDM9	23562411	0.717000	0.27966	0.001000	0.08648	0.143000	0.21401	0.000000	0.12993	0.160000	0.19432	0.505000	0.49811	AGC		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	223	1	0	0.00116845	1	0.00118049	6	223					T	23526654	G	T	23526654	3	4	79	1	0	0	0	0	1	0	0	0	12510	971	34	3	1495	3	PRDM9	5	23526654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3857	23526654	157388606	6010	16327											
CDH10	1008	broad.mit.edu	37	chr5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattctcggaggtaatcgtaGttttggtctccttcagtagt	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	761					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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTAATCGTAGTTTTGGTCTC	0.438										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2281-2283)aaC>aaA		cadherin 10, type 2 (T2-cadherin)							162	161	161					5																	24487856		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487856G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2283C>A	5.37:g.24487856G>T	ENSP00000264463:p.Asn761Lys	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.N761K	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2790	-			761					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2283C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535813	0.45176	.	.	ENSG00000040731	ENST00000264463	T	0.76448	-1.02	5.81	2.02	0.26589	Cadherin, cytoplasmic domain (1);	0.131088	0.64402	D	0.000001	T	0.70360	0.3215	L	0.50993	1.605	0.40598	D	0.981552	B	0.15141	0.012	B	0.18263	0.021	T	0.66830	-0.5824	10	0.87932	D	0	.	10.2185	0.43184	0.2733:0.0:0.7267:0.0	.	761	Q9Y6N8	CAD10_HUMAN	K	761	ENSP00000264463:N761K	ENSP00000264463:N761K	N	-	3	2	CDH10	24523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	0.375000	0.24679	0.655000	0.94253	AAC		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		152	688	1	0	1.56066e-67	1	1.97729e-67	152	688					T	24487856	G	T	24487856	3	4	79	1	0	0	0	0	1	0	0	0	3105	1020	36	3	87	3	CDH10	5	24487856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	961202	24487856	156427404	6011	16328											
CDH10	1008	broad.mit.edu	37	chr5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttttttcctcaatggctGcaggattcctcagggtgccg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	679					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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAATGGCTGCAGGATTCCT	0.483										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2035-2037)gCa>gTa		cadherin 10, type 2 (T2-cadherin)							60	64	63					5																	24488103		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488103G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2036C>T	5.37:g.24488103G>A	ENSP00000264463:p.Ala679Val	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A679V	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2543	-			679					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2036C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713235	0.48517	.	.	ENSG00000040731	ENST00000264463	T	0.76186	-1.0	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.100384	0.64402	D	0.000002	T	0.57917	0.2086	N	0.04260	-0.245	0.46564	D	0.999106	P	0.34815	0.47	B	0.39027	0.288	T	0.64364	-0.6425	10	0.51188	T	0.08	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	679	Q9Y6N8	CAD10_HUMAN	V	679	ENSP00000264463:A679V	ENSP00000264463:A679V	A	-	2	0	CDH10	24523860	1.000000	0.71417	0.855000	0.33649	0.953000	0.61014	5.855000	0.69510	2.580000	0.87095	0.655000	0.94253	GCA		0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		56	354	0	0	0	1	0	56	354					A	24488103	G	A	24488103	3	1	79	1	0	0	0	0	1	0	0	0	3105	1319	46	2	334	2	CDH10	5	24488103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	24488103	156427157	6012	16329											
CDH10	1008	broad.mit.edu	37	chr5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaatgattgtgcccacTtcaatatcttcatgaacttc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCCCACTTCAATATCTT	0.403										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1192-1194)gaA>gaC		cadherin 10, type 2 (T2-cadherin)							103	103	103					5																	24509737		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509737T>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1194A>C	5.37:g.24509737T>G	ENSP00000264463:p.Glu398Asp	HNSCC(23;0.051)					p.E398D	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1701	-			398			Cadherin 4.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1194A>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283613	0.40394	.	.	ENSG00000040731	ENST00000264463	T	0.02552	4.25	5.26	2.73	0.32206	Cadherin (3);Cadherin-like (1);	0.228496	0.43579	N	0.000547	T	0.02494	0.0076	L	0.28556	0.865	0.30452	N	0.775141	B	0.13145	0.007	B	0.19148	0.024	T	0.23332	-1.0191	10	0.45353	T	0.12	.	6.4566	0.21934	0.0:0.0833:0.3006:0.6162	.	398	Q9Y6N8	CAD10_HUMAN	D	398	ENSP00000264463:E398D	ENSP00000264463:E398D	E	-	3	2	CDH10	24545494	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	0.356000	0.24157	0.528000	0.53228	GAA		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		61	264	0	0	0	1	0	61	264					G	24509737	T	G	24509737	3	3	79	1	0	0	0	0	1	0	0	0	3105	1606	56	4	1196	4	CDH10	5	24509737	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21634	24509737	156405523	6013	16330											
CDH10	1008	broad.mit.edu	37	chr5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctgtaaatgactctggCgctgttcccatatgaagggt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A196P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - Missense(1)	p.A196P(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(586-588)Gcc>Acc		cadherin 10, type 2 (T2-cadherin)							136	124	128					5																	24535872		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535872C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.586G>A	5.37:g.24535872C>T	ENSP00000264463:p.Ala196Thr	HNSCC(23;0.051)					p.A196T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	1093	-			196			Cadherin 2.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.586G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687570	0.96784	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00005	-1.2546	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	T	196	ENSP00000264463:A196T	ENSP00000264463:A196T	A	-	1	0	CDH10	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		40	233	0	0	0	1	0	40	233					T	24535872	C	T	24535872	3	4	79	1	0	0	0	0	1	0	0	0	3105	768	27	1	1816	1	CDH10	5	24535872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26135	24535872	156379388	6014	16331											
CDH9	1007	broad.mit.edu	37	chr5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaacctgtccaatgataCtgccctcctttacatcttca	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	400	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)			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						TCCAATGATACTGCCCTCCTT	0.338																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(1198-1200)aGt>aAt		cadherin 9, type 2 (T1-cadherin)							126	118	121					5																	26902639		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902639C>T	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.1199G>A	5.37:g.26902639C>T	ENSP00000231021:p.Ser400Asn						p.S400N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			7	1371	-			400			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1199G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017195	0.54576	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.192760	0.53938	D	0.000042	T	0.47192	0.1432	M	0.69248	2.105	0.40218	D	0.977705	B	0.14438	0.01	B	0.26614	0.071	T	0.40346	-0.9568	9	.	.	.	.	11.6748	0.51424	0.0:0.9184:0.0:0.0816	.	400	Q9ULB4	CADH9_HUMAN	N	400	ENSP00000231021:S400N	.	S	-	2	0	CDH9	26938396	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	0.592000	0.23984	2.648000	0.89879	0.650000	0.86243	AGT		0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		31	390	0	0	0	1	0	31	390					T	26902639	C	T	26902639	3	4	79	1	0	0	0	0	1	0	0	0	3126	565	20	2	1194	2	CDH9	5	26902639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2366767	26902639	154012621	6015	16332											
CDH9	1007	broad.mit.edu	37	chr5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcaccatctccttcaGcaatgctatactccatttct	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						ATCTCCTTCAGCAATGCTATA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(922-924)gCt>gTt		cadherin 9, type 2 (T1-cadherin)							293	255	267					5																	26903822		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903822G>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.923C>T	5.37:g.26903822G>A	ENSP00000231021:p.Ala308Val						p.A308V	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1095	-			308			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.923C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084935	0.08583	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.74	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.770981	0.12924	N	0.427965	T	0.17023	0.0409	N	0.00742	-1.23	0.20638	N	0.999873	B	0.02656	0.0	B	0.04013	0.001	T	0.09618	-1.0666	9	.	.	.	.	10.8091	0.46535	0.1489:0.0:0.8511:0.0	.	308	Q9ULB4	CADH9_HUMAN	V	308	ENSP00000231021:A308V	.	A	-	2	0	CDH9	26939579	0.079000	0.21365	0.994000	0.49952	0.741000	0.42261	2.924000	0.48876	2.881000	0.98747	0.650000	0.86243	GCT		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		188	732	0	0	0	1	0	188	732					A	26903822	G	A	26903822	3	1	79	1	0	0	0	0	1	0	0	0	3126	971	34	2	1474	2	CDH9	5	26903822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1183	26903822	154011438	6016	16333											
CDH9	1007	broad.mit.edu	37	chr5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatagactgccagccccatCtcctgttagtatgtatttta	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CCAGCCCCATCTCCTGTTAGT	0.353																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(283-285)Gat>Aat		cadherin 9, type 2 (T1-cadherin)							102	104	103					5																	26915978		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915978C>T	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.283G>A	5.37:g.26915978C>T	ENSP00000231021:p.Asp95Asn						p.D95N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			3	455	-			95			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.283G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914844	0.92178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.60920	0.15;0.67	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.101514	0.64402	D	0.000003	T	0.72946	0.3524	M	0.63169	1.94	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.891	T	0.73392	-0.3997	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	95;95	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	95	ENSP00000231021:D95N;ENSP00000426239:D95N	.	D	-	1	0	CDH9	26951735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GAT		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		96	548	0	0	0	1	0	96	548					T	26915978	C	T	26915978	3	4	79	1	0	0	0	0	1	0	0	0	3126	913	32	2	2126	2	CDH9	5	26915978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12156	26915978	153999282	6017	16334											
CDH6	1004	broad.mit.edu	37	chr5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtccaagtcactgcgaCggatgcagatgatccaacat	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(550-552)aCg>aTg		cadherin 6, type 2, K-cadherin (fetal kidney)							165	154	157					5																	31297423		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31297423C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.551C>T	5.37:g.31297423C>T	ENSP00000265071:p.Thr184Met					CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	p.T184M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			4	816	+			184			Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.551C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167083	0.38217	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.146577	0.64402	D	0.000009	T	0.68165	0.2971	M	0.72576	2.205	0.44918	D	0.997935	D;D	0.69078	0.983;0.997	P;P	0.60541	0.799;0.876	T	0.70883	-0.4751	10	0.72032	D	0.01	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	184;184	P55285;P55285-2	CADH6_HUMAN;.	M	129;184	ENSP00000424843:T129M;ENSP00000265071:T184M	ENSP00000265071:T184M	T	+	2	0	CDH6	31333180	0.896000	0.30565	0.495000	0.27527	0.070000	0.16714	1.892000	0.39748	2.749000	0.94314	0.655000	0.94253	ACG		0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		73	378	0	0	0	1	0	73	378					T	31297423	C	T	31297423	3	4	79	1	0	0	0	0	1	0	0	0	3123	536	19	1	561	1	CDH6	5	31297423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4381445	31297423	149617837	6018	16335											
CDH6	1004	broad.mit.edu	37	chr5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggtttgtgacagataatCcaaagcaaagtagtcgagta	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1396-1398)Cca>Tca		cadherin 6, type 2, K-cadherin (fetal kidney)							54	56	55					5																	31316320		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31316320C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1396C>T	5.37:g.31316320C>T	ENSP00000265071:p.Pro466Ser					CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	p.P466S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			9	1661	+			466			Cadherin 4.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1396C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468432	0.43839	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.102637	0.64402	D	0.000002	T	0.51312	0.1667	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.33857	0.08;0.429	B;B	0.38378	0.074;0.272	T	0.49978	-0.8881	10	0.30078	T	0.28	.	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	466;466	P55285;P55285-2	CADH6_HUMAN;.	S	411;466	ENSP00000424843:P411S;ENSP00000265071:P466S	ENSP00000265071:P466S	P	+	1	0	CDH6	31352077	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.278000	0.78587	1.444000	0.47605	0.591000	0.81541	CCA		0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		35	236	0	0	0	1	0	35	236					T	31316320	C	T	31316320	3	4	79	1	0	0	0	0	1	0	0	0	3123	855	30	2	1426	2	CDH6	5	31316320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	31316320	149598940	6019	16336											
RNASEN	29102	broad.mit.edu	37	chr5	31423045	31423045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtcgatcagtatttggctCttgtagctacaggaaaatag	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31423045C>T	ENST00000511367.2	-	28	3512	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	DROSHA_ENST00000344624.3_Missense_Mutation_p.E1090K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E1053K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1090*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308																																						ENST00000511367.2																			1	Substitution - Nonsense(1)	p.E1090*(1)	kidney(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3268-3270)Gag>Aag		drosha, ribonuclease type III							57	55	56					5																	31423045		1815	4064	5879	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31423045C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3268G>A	5.37:g.31423045C>T	ENSP00000425979:p.Glu1090Lys					DROSHA_ENST00000344624.3_Missense_Mutation_p.E1090K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E1053K	p.E1090K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			28	3512	-			1090			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3268G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172684	0.94807	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.47177	1.43;1.43;0.85;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.69358	2.11	0.80722	D	1	D;D	0.55605	0.972;0.962	P;P	0.58780	0.845;0.691	T	0.66504	-0.5907	10	0.72032	D	0.01	-21.751	20.3248	0.98698	0.0:1.0:0.0:0.0	.	1053;1090	E7EMP9;Q9NRR4	.;RNC_HUMAN	K	1090;1090;1053;1053;1015;1046	ENSP00000425979:E1090K;ENSP00000339845:E1090K;ENSP00000409335:E1053K;ENSP00000424161:E1053K	ENSP00000265075:E1015K	E	-	1	0	DROSHA	31458802	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.271000	0.78506	2.818000	0.97014	0.655000	0.94253	GAG		0.308	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		13	71	0	0	0	1	0	13	71					T	31423045	C	T	31423045	3	4	79	1	0	0	0	0	1	0	0	0	13467	922	32	2	888	2	RNASEN	5	31423045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106725	31423045	149492215	6020	16337											
RNASEN	29102	broad.mit.edu	37	chr5	31468141	31468141	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttgaactgttcacgatcCagttgatcgatacggacaga	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31468141C>A	ENST00000511367.2	-	17	2515	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	DROSHA_ENST00000344624.3_Silent_p.L757L|DROSHA_ENST00000442743.1_Silent_p.L720L|DROSHA_ENST00000513349.1_Silent_p.L720L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	757	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTTCACGATCCAGTTGATCGA	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2269-2271)ctG>ctT		drosha, ribonuclease type III							74	72	72					5																	31468141		1873	4106	5979	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31468141C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2271G>T	5.37:g.31468141C>A						DROSHA_ENST00000344624.3_Silent_p.L757L|DROSHA_ENST00000442743.1_Silent_p.L720L|DROSHA_ENST00000513349.1_Silent_p.L720L	p.L757L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			17	2515	-			757			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.2271G>T	CCDS47195.1																																																																																				0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		15	69	1	0	7.93312e-07	1	8.20014e-07	15	69					A	31468141	C	A	31468141	2	1	79	1	0	0	0	0	0	0	0	1	13467	581	21	3		3	RNASEN	5	31468141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45096	31468141	149447119	6021	16338											
RNASEN	29102	broad.mit.edu	37	chr5	31486629	31486629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcaatgaaatgaatcGtgtagtctatgttgaatcta	7	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31486629G>A	ENST00000511367.2	-	13	2127	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	DROSHA_ENST00000344624.3_Missense_Mutation_p.T628M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T591M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T591M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	628	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAAATGAATCGTGTAGTCTAT	0.378																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1882-1884)aCg>aTg		drosha, ribonuclease type III							130	133	132					5																	31486629		1942	4152	6094	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31486629G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1883C>T	5.37:g.31486629G>A	ENSP00000425979:p.Thr628Met					DROSHA_ENST00000344624.3_Missense_Mutation_p.T628M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T591M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T591M	p.T628M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			13	2127	-			628			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1883C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261408	0.80358	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.64595	0.927;0.893	T	0.56823	-0.7915	10	0.87932	D	0	-15.8364	19.8331	0.96643	0.0:0.0:1.0:0.0	.	591;628	E7EMP9;Q9NRR4	.;RNC_HUMAN	M	628;628;591;591;553;584	ENSP00000425979:T628M;ENSP00000339845:T628M;ENSP00000409335:T591M;ENSP00000424161:T591M	ENSP00000265075:T553M	T	-	2	0	DROSHA	31522386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.307000	0.89964	2.779000	0.95612	0.650000	0.86243	ACG		0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		52	231	0	0	0	1	0	52	231					A	31486629	G	A	31486629	3	1	79	1	0	0	0	0	1	0	0	0	13467	1145	40	1	2333	1	RNASEN	5	31486629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18488	31486629	149428631	6022	16339											
RNASEN	29102	broad.mit.edu	37	chr5	31493337	31493337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggggggcatgtgcaaAcatagaaaatccttcaaaga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31493337A>G	ENST00000511367.2	-	12	2063	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L	DROSHA_ENST00000344624.3_Missense_Mutation_p.F607L|DROSHA_ENST00000442743.1_Missense_Mutation_p.F570L|DROSHA_ENST00000513349.1_Missense_Mutation_p.F570L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	607	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCATGTGCAAACATAGAAAAT	0.393																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1819-1821)Ttt>Ctt		drosha, ribonuclease type III							66	66	66					5																	31493337		1880	4106	5986	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31493337A>G	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1819T>C	5.37:g.31493337A>G	ENSP00000425979:p.Phe607Leu					DROSHA_ENST00000344624.3_Missense_Mutation_p.F607L|DROSHA_ENST00000442743.1_Missense_Mutation_p.F570L|DROSHA_ENST00000513349.1_Missense_Mutation_p.F570L	p.F607L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			12	2063	-			607			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1819T>C	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.54|11.54	1.668260|1.668260	0.29604|0.29604	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.09163|.	3.01;3.01;3.01;3.01|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21147|.	0.052;0.031;0.008|.	B;B;B|.	0.21151|.	0.033;0.014;0.004|.	T|T	0.35549|0.35549	-0.9784|-0.9784	10|5	0.02654|.	T|.	1|.	-18.4387|-18.4387	15.5976|15.5976	0.76599|0.76599	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	539;570;607|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	L|A	607;607;570;570;532;563|368	ENSP00000425979:F607L;ENSP00000339845:F607L;ENSP00000409335:F570L;ENSP00000424161:F570L|.	ENSP00000265075:F532L|.	F|V	-|-	1|2	0|0	DROSHA|DROSHA	31529094|31529094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.904000|7.904000	0.87408|0.87408	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTT|GTT		0.393	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		11	61	0	0	0	1	0	11	61					G	31493337	A	G	31493337	3	3	79	1	0	0	0	0	1	0	0	0	13467	43	2	4	2401	4	RNASEN	5	31493337	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6708	31493337	149421923	6023	16340											
PDZD2	23037	broad.mit.edu	37	chr5	32087337	32087337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagggcaagtcagtcgGccagagaatcccagccagcc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGTCAGTCGGCCAGAGAATC	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3781-3783)cgG>cgA		PDZ domain containing 2							62	71	68					5																	32087337		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087337G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3783G>A	5.37:g.32087337G>A						PDZD2_ENST00000282493.3_Silent_p.R1261R	p.R1261R			O15018	PDZD2_HUMAN			20	4171	+			1261					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.3783G>A	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			98	546	0	0	0	1	0	98	546					A	32087337	G	A	32087337	2	1	79	1	0	0	0	0	0	0	0	1	11743	1190	42	2		2	PDZD2	5	32087337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594000	32087337	148827923	6024	16341											
PDZD2	23037	broad.mit.edu	37	chr5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggcattttcacagtcCgcccatcattctcagctccc	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1721					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCACAGTCCGCCCATCATT	0.498																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5161-5163)cCg>cTg		PDZ domain containing 2							117	97	104					5																	32088716		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088716C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5162C>T	5.37:g.32088716C>T	ENSP00000402033:p.Pro1721Leu					PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L	p.P1721L			O15018	PDZD2_HUMAN			20	5550	+			1721					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5162C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340517	0.24339	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.37	2.65	0.31530	.	0.898851	0.09563	N	0.785301	T	0.08447	0.0210	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.35671	T	0.21	.	7.4691	0.27338	0.0:0.7293:0.0:0.2707	.	1721	O15018	PDZD2_HUMAN	L	1721;1522;1721	ENSP00000402033:P1721L;ENSP00000282493:P1721L	ENSP00000282493:P1721L	P	+	2	0	PDZD2	32124473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.264000	0.21851	0.561000	0.74099	CCG		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			90	334	0	0	0	1	0	90	334					T	32088716	C	T	32088716	3	4	79	1	0	0	0	0	1	0	0	0	11743	652	23	1	5236	1	PDZD2	5	32088716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	32088716	148826544	6025	16342											
GOLPH3	64083	broad.mit.edu	37	chr5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgccgccaccaccgcCcacagaacctcattggtgtt	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	290					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(868-870)tgG>tgA		golgi phosphoprotein 3 (coat-protein)							115	111	112					5																	32126345		2203	4300	6503	SO:0001587	stop_gained	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126345C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.870G>A	5.37:g.32126345C>T	ENSP00000265070:p.Trp290*						p.W290*	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1185	-			290					Q9UIW5	Nonsense_Mutation	SNP	ENST00000265070.6	37	c.870G>A	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884130	0.72410	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	290;273	.	ENSP00000265070:W290X	W	-	3	0	GOLPH3	32162102	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	TGG		0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		117	565	0	0	0	1	0	117	565					T	32126345	C	T	32126345	4	4	79	1	0	0	0	0	0	1	0	0	6597	624	22	2	30	2	GOLPH3	5	32126345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37629	32126345	148788915	6026	16343											
GOLPH3	64083	broad.mit.edu	37	chr5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtccatgcggtgagggTcattcacccatttgtcaaga	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	228					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(682-684)gAc>gCc		golgi phosphoprotein 3 (coat-protein)							189	170	177					5																	32126532		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126532T>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.683A>C	5.37:g.32126532T>G	ENSP00000265070:p.Asp228Ala						p.D228A	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	998	-			228					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.683A>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834356	0.50951	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.086647	0.85682	D	0.000000	T	0.79028	0.4377	M	0.90082	3.085	0.80722	D	1	P	0.49783	0.928	P	0.53266	0.722	T	0.82127	-0.0611	9	0.49607	T	0.09	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	228	Q9H4A6	GOLP3_HUMAN	A	228;211	.	ENSP00000265070:D228A	D	-	2	0	GOLPH3	32162289	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.649000	0.83500	2.367000	0.80283	0.528000	0.53228	GAC		0.502	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		134	491	0	0	0	1	0	134	491					G	32126532	T	G	32126532	3	3	79	1	0	0	0	0	1	0	0	0	6597	1667	58	4	217	4	GOLPH3	5	32126532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	32126532	148788728	6027	16344											
MTMR12	54545	broad.mit.edu	37	chr5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatggtagtcagtggacTtgctatgccagctgtcatag	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	619	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCAGTGGACTTGCTATGCCA	0.448																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1855-1857)aAg>aCg		myotubularin related protein 12							100	99	99					5																	32230272		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230272T>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1856A>C	5.37:g.32230272T>G	ENSP00000371577:p.Lys619Thr					MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR	p.K619T	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2026	-			619			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1856A>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210419	0.58343	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.42131	0.98;0.98;0.98	5.78	2.13	0.27403	Myotubularin phosphatase domain (1);	0.470463	0.23450	N	0.048057	T	0.42245	0.1194	L	0.59436	1.845	0.21325	N	0.999729	P;B;P	0.37158	0.585;0.449;0.505	B;B;B	0.42827	0.399;0.212;0.317	T	0.28870	-1.0030	10	0.49607	T	0.09	.	9.2291	0.37425	0.0:0.2043:0.0:0.7957	.	509;565;619	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	T	565;619;509	ENSP00000280285:K565T;ENSP00000371577:K619T;ENSP00000264934:K509T	ENSP00000264934:K509T	K	-	2	0	MTMR12	32266029	1.000000	0.71417	0.969000	0.41365	0.800000	0.45204	2.127000	0.42035	0.139000	0.18822	0.459000	0.35465	AAG		0.448	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		103	525	0	0	0	1	0	103	525					G	32230272	T	G	32230272	3	3	79	1	0	0	0	0	1	0	0	0	9982	1609	56	4	391	4	MTMR12	5	32230272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103740	32230272	148684988	6028	16345											
ZFR	51663	broad.mit.edu	37	chr5	32387723	32387723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtttctctgagcacaGcaaaacaaggttgacatttc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	811	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2431-2433)Ctg>Ttg		zinc finger RNA binding protein							120	118	119					5																	32387723		2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32387723G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2431C>T	5.37:g.32387723G>A							p.L811L	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	14	2533	-			811			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.2431C>T	CCDS34139.1																																																																																				0.383	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			75	361	0	0	0	1	0	75	361					A	32387723	G	A	32387723	2	1	79	1	0	0	0	0	0	0	0	1	17712	962	34	2		2	ZFR	5	32387723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157451	32387723	148527537	6029	16346											
NPR3	4883	broad.mit.edu	37	chr5	32712326	32712326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggcccggcttgcatcGcactgggacctgcccatgct	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000415167.2_Silent_p.S148S|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(442-444)tcG>tcA		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						45	50	48					5																	32712326		1990	4121	6111	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712326G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.444G>A	5.37:g.32712326G>A						NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	787	+			148					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.444G>A	CCDS56357.1																																																																																				0.706	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		99	516	0	0	0	1	0	99	516					A	32712326	G	A	32712326	2	1	79	1	0	0	0	0	0	0	0	1	10638	1074	38	1		1	NPR3	5	32712326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324603	32712326	148202934	6030	16347											
NPR3	4883	broad.mit.edu	37	chr5	32739076	32739076	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgaaacctgagtttgaGaagttttccatggaggtgaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32739076G>T	ENST00000265074.8	+	3	1342	c.999G>T	c.(997-999)gaG>gaT	p.E333D	NPR3_ENST00000415167.2_Missense_Mutation_p.E333D|NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	333					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGAGTTTGAGAAGTTTTCCA	0.453																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(997-999)gaG>gaT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						128	125	126					5																	32739076		1881	4103	5984	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739076G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.999G>T	5.37:g.32739076G>T	ENSP00000265074:p.Glu333Asp					NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D	p.E333D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			3	1342	+			333					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.999G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170557	0.38315	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.04	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.046579	0.85682	D	0.000000	D	0.88265	0.6390	M	0.61703	1.905	0.52501	D	0.999953	P;B;D;D	0.63880	0.632;0.446;0.993;0.993	B;B;D;D	0.72338	0.18;0.137;0.977;0.977	D	0.85435	0.1151	10	0.13853	T	0.58	-19.2395	15.0721	0.72046	0.0673:0.0:0.9327:0.0	.	117;117;333;333	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	110;117;117;333;333	ENSP00000425325:E110D;ENSP00000388408:E117D;ENSP00000402490:E117D;ENSP00000265074:E333D;ENSP00000398028:E333D	ENSP00000265074:E333D	E	+	3	2	NPR3	32774833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	1.571000	0.49722	0.561000	0.74099	GAG		0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		11	431	1	0	3.07112e-06	1	3.16074e-06	11	431					T	32739076	G	T	32739076	3	4	79	1	0	0	0	0	1	0	0	0	10638	933	33	3	1009	3	NPR3	5	32739076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26750	32739076	148176184	6031	16348											
TARS	6897	broad.mit.edu	37	chr5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttatgtttgatcatcGgccaaggtcctggcgagaac	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000265112.3	+	12	1579	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	423					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1267-1269)cGg>cAg		threonyl-tRNA synthetase	L-Threonine(DB00156)						71	74	73					5																	33461024		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461024G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1268G>A	5.37:g.33461024G>A	ENSP00000265112:p.Arg423Gln					TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q	p.R423Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1579	+			423					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1268G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372127	0.95923	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.999;1.0	B;D;D;D	0.75484	0.427;0.986;0.959;0.986	T	0.80476	-0.1366	10	0.87932	D	0	-7.802	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302;456;319;423	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	423;423;319;456;302	ENSP00000424387:R423Q;ENSP00000265112:R423Q;ENSP00000438469:R319Q;ENSP00000387710:R456Q;ENSP00000394291:R302Q	ENSP00000265112:R423Q	R	+	2	0	TARS	33496781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	CGG		0.463	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		68	271	0	0	0	1	0	68	271					A	33461024	G	A	33461024	3	1	79	1	0	0	0	0	1	0	0	0	15611	1116	39	1	1314	1	TARS	5	33461024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	721948	33461024	147454236	6032	16349											
ADAMTS12	81792	broad.mit.edu	37	chr5	33527365	33527365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgatgtgtgtctggggAcacgagaagcagcactcagc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1571	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(4711-4713)tgT>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 12							261	233	242					5																	33527365		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527365A>G	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.4713T>C	5.37:g.33527365A>G		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.C1486C	p.C1571C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			24	5048	-			1571			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4713T>C	CCDS34140.1																																																																																				0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		85	835	0	0	0	1	0	85	835					G	33527365	A	G	33527365	2	3	79	1	0	0	0	0	0	0	0	1	257	273	10	4		4	ADAMTS12	5	33527365	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66341	33527365	147387895	6033	16350											
ADAMTS12	81792	broad.mit.edu	37	chr5	33527431	33527431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggctttcagtgtctgGcagaaactggctgacagttt	11	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527431G>A	ENST00000504830.1	-	24	4982	c.4647C>T	c.(4645-4647)tgC>tgT	p.C1549C	ADAMTS12_ENST00000352040.3_Silent_p.C1464C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1549	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAGTGTCTGGCAGAAACTGG	0.443										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(4645-4647)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							137	127	130					5																	33527431		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527431G>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.4647C>T	5.37:g.33527431G>A		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.C1464C	p.C1549C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			24	4982	-			1549			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4647C>T	CCDS34140.1																																																																																				0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		15	461	0	0	0	1	0	15	461					A	33527431	G	A	33527431	2	1	79	1	0	0	0	0	0	0	0	1	257	1195	42	2		2	ADAMTS12	5	33527431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	33527431	147387829	6034	16351											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614342	33614342	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagcagctgtttctcaCctgtcccgcaggtcacactg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.e16+1		ADAM metallopeptidase with thrombospondin type 1 motif, 12							134	94	107					5																	33614342		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614342C>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.2527+1G>A	5.37:g.33614342C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site		NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			16	2863	-								A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37		CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414237	0.83449	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33650099	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	.		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	18	107	0	0	0	1	0	18	107					T	33614342	C	T	33614342	5	4	79	1	0	0	0	0	0	0	1	0	257	521	18	2	2292	2	ADAMTS12	5	33614342	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86911	33614342	147300918	6035	16352											
ADAMTS12	81792	broad.mit.edu	37	chr5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctggatccacacagactCattggtgggacctgtggcca	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	791	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACAGACTCATTGGTGGGA	0.483										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(2371-2373)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12							142	126	131					5																	33615950		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33615950C>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.2371G>A	5.37:g.33615950C>T	ENSP00000422554:p.Glu791Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K	p.E791K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			15	2706	-			791			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2371G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472919	0.84640	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56941	0.43;0.43	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.300984	0.35151	N	0.003404	T	0.74366	0.3707	M	0.89840	3.065	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.64877	0.73;0.93	T	0.74166	-0.3753	10	0.09338	T	0.73	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	706;791	P58397-3;P58397	.;ATS12_HUMAN	K	791;706	ENSP00000422554:E791K;ENSP00000344847:E706K	ENSP00000344847:E706K	E	-	1	0	ADAMTS12	33651707	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.034000	0.64152	2.481000	0.83766	0.561000	0.74099	GAG		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		92	485	0	0	0	1	0	92	485					T	33615950	C	T	33615950	3	4	79	1	0	0	0	0	1	0	0	0	257	835	29	2	2453	2	ADAMTS12	5	33615950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1608	33615950	147299310	6036	16353											
ADAMTS12	81792	broad.mit.edu	37	chr5	33641986	33641986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacagtgggaccagggTgaccagcggccccagcctcc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	549	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)			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						GGGACCAGGGTGACCAGCGGC	0.572										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(1645-1647)tcA>tcG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							60	57	58					5																	33641986		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33641986T>C	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.1647A>G	5.37:g.33641986T>C		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.S549S	p.S549S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			11	1982	-			549			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1647A>G	CCDS34140.1																																																																																				0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		48	267	0	0	0	1	0	48	267					C	33641986	T	C	33641986	2	2	79	1	0	0	0	0	0	0	0	1	257	1683	59	4		4	ADAMTS12	5	33641986	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26036	33641986	147273274	6037	16354											
ADAMTS12	81792	broad.mit.edu	37	chr5	33649745	33649745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgggacatgatgtaCggatgtctgcccacaggctc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	416	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						ACATGATGTACGGATGTCTGC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(1246-1248)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							177	150	159					5																	33649745		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649745C>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.1248G>A	5.37:g.33649745C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P416P	p.P416P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			8	1583	-			416			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1248G>A	CCDS34140.1																																																																																				0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		50	298	0	0	0	1	0	50	298					T	33649745	C	T	33649745	2	4	79	1	0	0	0	0	0	0	0	1	257	523	19	1		1	ADAMTS12	5	33649745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7759	33649745	147265515	6038	16355											
RXFP3	51289	broad.mit.edu	37	chr5	33937494	33937494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctcggccaaggcgCtgtgtgtgtggatctgggct	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	217					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCAAGGCGCTGTGTGTGTG	0.692																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(649-651)Ctg>Ttg		relaxin/insulin-like family peptide receptor 3							29	30	30					5																	33937494		2202	4300	6502	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937494C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.649C>T	5.37:g.33937494C>T							p.L217L	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1004	+			217					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.649C>T	CCDS3900.1																																																																																				0.692	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		36	185	0	0	0	1	0	36	185					T	33937494	C	T	33937494	2	4	79	1	0	0	0	0	0	0	0	1	13811	796	28	2		2	RXFP3	5	33937494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287749	33937494	146977766	6039	16356											
RXFP3	51289	broad.mit.edu	37	chr5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgcccagcagctctGcctactgacgcaggcctcag	10	17	2	1	rs542295638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	468					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCAGCTCTGCCTACTGACG	0.726																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1402-1404)Gcc>Acc		relaxin/insulin-like family peptide receptor 3							11	13	13					5																	33938247		2022	3966	5988	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938247G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1402G>A	5.37:g.33938247G>A	ENSP00000328708:p.Ala468Thr						p.A468T	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1757	+			468					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1402G>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507128	0.12883	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.64	2.77	0.32553	.	0.501086	0.16447	N	0.214034	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	10	0.66056	D	0.02	-9.5993	5.1591	0.15050	0.1941:0.0:0.4271:0.3788	.	468	Q9NSD7	RL3R1_HUMAN	T	468	ENSP00000328708:A468T	ENSP00000328708:A468T	A	+	1	0	RXFP3	33974004	0.000000	0.05858	0.027000	0.17364	0.112000	0.19704	0.380000	0.20602	0.260000	0.21731	-0.181000	0.13052	GCC		0.726	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		9	176	0	0	0	1	0	9	176					A	33938247	G	A	33938247	3	1	79	1	0	0	0	0	1	0	0	0	13811	1319	46	2	1404	2	RXFP3	5	33938247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	753	33938247	146977013	6040	16357											
SLC45A2	51151	broad.mit.edu	37	chr5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctaacaaagagagCgacaaagcaacagcctatca	6	11	2	1	rs371334000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	523					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAAAGAGAGCGACAAAGCAA	0.512																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1567-1569)Gct>Act		solute carrier family 45, member 2		C	THR/ALA	0,4406		0,0,2203	67	62	64		1567	5.7	1	5		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A2	NM_016180.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	523/531	33944779	1,13005	2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33944779C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1567G>A	5.37:g.33944779C>T	ENSP00000296589:p.Ala523Thr					SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	p.A523T	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN			7	1713	-			523					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1567G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484837	0.84854	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.88818	-2.43;-1.45	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.113165	0.64402	D	0.000012	D	0.91784	0.7401	M	0.72479	2.2	0.80722	D	1	D	0.53462	0.96	P	0.51079	0.658	D	0.90334	0.4354	10	0.35671	T	0.21	-6.3658	19.9265	0.97104	0.0:1.0:0.0:0.0	.	523	Q9UMX9	S45A2_HUMAN	T	523;464	ENSP00000296589:A523T;ENSP00000341014:A464T	ENSP00000296589:A523T	A	-	1	0	SLC45A2	33980536	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.755000	0.68750	2.723000	0.93209	0.591000	0.81541	GCT		0.512	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		32	168	0	0	0	1	0	32	168					T	33944779	C	T	33944779	3	4	79	1	0	0	0	0	1	0	0	0	14691	768	27	1	29	1	SLC45A2	5	33944779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6532	33944779	146970481	6041	16358											
AMACR	23600	broad.mit.edu	37	chr5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatccaaattcttcaagTatctcctcagtgtgttctcc	5	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000335606.6	-	5	1147	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	353					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(1057-1059)atA>atG		alpha-methylacyl-CoA racemase							91	95	94					5																	33989288		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989288T>C	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1059A>G	5.37:g.33989288T>C	ENSP00000334424:p.Ile353Met					AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M	p.I353M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			5	1147	-			353					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.1059A>G	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653167	0.67472	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58652	0.32;0.32;0.32	5.6	-3.41	0.04839	CoA-transferase family III domain (1);	0.157701	0.64402	D	0.000020	T	0.64193	0.2576	M	0.83603	2.65	0.80722	D	1	D;D;D	0.56746	0.977;0.96;0.96	D;P;P	0.63877	0.919;0.832;0.832	T	0.62642	-0.6811	10	0.59425	D	0.04	-6.6573	0.5428	0.00648	0.3107:0.1306:0.2361:0.3225	.	353;338;353	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	M	353;353;338	ENSP00000334424:I353M;ENSP00000371517:I353M;ENSP00000424351:I338M	ENSP00000334424:I353M	I	-	3	3	AMACR	34025045	0.408000	0.25360	0.953000	0.39169	0.897000	0.52465	-0.417000	0.07088	-0.358000	0.08162	0.519000	0.50382	ATA		0.453	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		63	311	0	0	0	1	0	63	311					C	33989288	T	C	33989288	3	2	79	1	0	0	0	0	1	0	0	0	562	1628	57	4	151	4	AMACR	5	33989288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44509	33989288	146925972	6042	16359											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033454	34033454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccttctctcctttgggGccatgctgcccccgctcccc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033454G>A	ENST00000231338.7	-	3	393	c.306C>T	c.(304-306)ggC>ggT	p.G102G	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Silent_p.G86G|C1QTNF3_ENST00000382065.3_Silent_p.G175G	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	102	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTCCTTTGGGGCCATGCTGCC	0.577																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(523-525)ggC>ggT		C1q and tumor necrosis factor related protein 3							114	112	112					5																	34033454		2203	4300	6503	SO:0001819	synonymous_variant	114899					collagen		g.chr5:34033454G>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"cartonectin"	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.306C>T	5.37:g.34033454G>A						C1QTNF3_ENST00000231338.7_Silent_p.G102G	p.G175G	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1231	-	all_lung(31;0.0207)		102			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	ENST00000231338.7	37	c.525C>T	CCDS3904.1																																																																																				0.577	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		60	310	0	0	0	1	0	60	310					A	34033454	G	A	34033454	2	1	79	1	0	0	0	0	0	0	0	1	1971	1190	42	2		2	C1QTNF3	5	34033454	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44166	34033454	146881806	6043	16360											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033554	34033554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccattgttgccattgtttCcatggtttccttaaacaacc	5	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033554C>T	ENST00000231338.7	-	3	293	c.206G>A	c.(205-207)gGa>gAa	p.G69E	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.G53E|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G142E	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	69	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCATTGTTTCCATGGTTTCC	0.483																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(424-426)gGa>gAa		C1q and tumor necrosis factor related protein 3							139	141	140					5																	34033554		2203	4300	6503	SO:0001583	missense	114899					collagen		g.chr5:34033554C>T	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"cartonectin"	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.206G>A	5.37:g.34033554C>T	ENSP00000231338:p.Gly69Glu					C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G69E	p.G142E	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1131	-	all_lung(31;0.0207)		69			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37	c.425G>A	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732027	0.89390	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	D;D	0.99353	-5.77;-5.77	5.39	5.39	0.77823	.	.	.	.	.	D	0.99670	0.9877	H	0.96889	3.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.97591	1.0117	9	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	142;69	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	E	46;142;69	ENSP00000371497:G142E;ENSP00000231338:G69E	ENSP00000231338:G69E	G	-	2	0	C1QTNF3	34069311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.690000	0.91761	0.655000	0.94253	GGA		0.483	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		73	412	0	0	0	1	0	73	412					T	34033554	C	T	34033554	3	4	79	1	0	0	0	0	1	0	0	0	1971	855	30	2	550	2	C1QTNF3	5	34033554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	34033554	146881706	6044	16361											
RAI14	26064	broad.mit.edu	37	chr5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccaccatgaatgcatcagGaagctgcttcaggtaagctg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	103						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATGCATCAGGAAGCTGCTTC	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(307-309)agG>agT		retinoic acid induced 14							52	51	51					5																	34803869		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34803869G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.309G>T	5.37:g.34803869G>T	ENSP00000265109:p.Arg103Ser					RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S	p.R103S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			5	596	+	all_lung(31;0.000191)		103					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.309G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559349	0.65538	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59169	0.2174	L	0.45352	1.415	0.43756	D	0.996265	B;B;B;B	0.23806	0.073;0.09;0.091;0.09	B;B;B;B	0.26770	0.033;0.055;0.073;0.055	T	0.54043	-0.8352	9	0.46703	T	0.11	-7.3379	18.5214	0.90954	0.0:0.0:1.0:0.0	.	95;103;106;103	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	103;103;103;103;103;103;103;103;103;103;106;103;103;95;96	ENSP00000265109:R103S;ENSP00000424879:R103S;ENSP00000422112:R103S;ENSP00000422377:R103S;ENSP00000388725:R103S;ENSP00000421424:R103S;ENSP00000422942:R103S;ENSP00000422515:R103S;ENSP00000422114:R103S;ENSP00000424502:R103S;ENSP00000427123:R106S;ENSP00000426770:R103S;ENSP00000425115:R103S;ENSP00000423854:R95S;ENSP00000380591:R96S	ENSP00000265109:R103S	R	+	3	2	RAI14	34839626	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.180000	0.65048	2.814000	0.96858	0.655000	0.94253	AGG		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		17	72	1	0	4.35082e-09	1	4.56966e-09	17	72					T	34803869	G	T	34803869	3	4	79	1	0	0	0	0	1	0	0	0	13058	1165	41	3	388	3	RAI14	5	34803869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770315	34803869	146111391	6045	16362											
RAI14	26064	broad.mit.edu	37	chr5	34823310	34823310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcagagagaaaacagCtacaggtcgaactccaatcc	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34823310C>A	ENST00000265109.3	+	15	1650	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	455						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAGAAAACAGCTACAGGTCGA	0.423																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1363-1365)Cta>Ata		retinoic acid induced 14							78	88	85					5																	34823310		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823310C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1363C>A	5.37:g.34823310C>A	ENSP00000265109:p.Leu455Ile					RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I	p.L455I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	1650	+	all_lung(31;0.000191)		455					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1363C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939302	0.34189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.44	3.4	0.38934	.	.	.	.	.	T	0.20373	0.0490	L	0.34521	1.04	0.42043	D	0.991085	P;D;D;D	0.58970	0.879;0.966;0.984;0.966	B;B;P;B	0.47827	0.36;0.284;0.558;0.184	T	0.05937	-1.0855	9	0.56958	D	0.05	-9.4135	2.818	0.05463	0.0:0.3753:0.2344:0.3903	.	447;426;458;455	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	455;426;455;455;458;447;448	ENSP00000265109:L455I;ENSP00000422377:L426I;ENSP00000388725:L455I;ENSP00000422942:L455I;ENSP00000427123:L458I;ENSP00000423854:L447I;ENSP00000380591:L448I	ENSP00000265109:L455I	L	+	1	2	RAI14	34859067	0.947000	0.32204	0.997000	0.53966	0.477000	0.33069	1.743000	0.38258	1.305000	0.44909	-0.266000	0.10368	CTA		0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		9	378	1	0	1.12685e-05	1	1.15515e-05	9	378					A	34823310	C	A	34823310	3	1	79	1	0	0	0	0	1	0	0	0	13058	796	28	3	1482	3	RAI14	5	34823310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19441	34823310	146091950	6046	16363											
RAI14	26064	broad.mit.edu	37	chr5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttgaaatccaaagagcaaGaagtaaatgaacttctgcaa	7	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	848						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAAGAGCAAGAAGTAAATGA	0.393																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2542-2544)Gaa>Taa		retinoic acid induced 14							51	54	53					5																	34824489		2202	4300	6502	SO:0001587	stop_gained	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824489G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2542G>T	5.37:g.34824489G>T	ENSP00000265109:p.Glu848*					RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*	p.E848*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2829	+	all_lung(31;0.000191)		848					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	37	c.2542G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201637	0.98704	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9299	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	848;819;848;848;851;840;841	.	ENSP00000265109:E848X	E	+	1	0	RAI14	34860246	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	8.358000	0.90090	2.658000	0.90341	0.555000	0.69702	GAA		0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		53	296	1	0	9.22156e-22	1	1.04059e-21	53	296					T	34824489	G	T	34824489	4	4	79	1	0	0	0	0	0	1	0	0	13058	943	33	3	2661	3	RAI14	5	34824489	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	34824489	146090771	6047	16364											
DNAJC21	134218	broad.mit.edu	37	chr5	34949740	34949740	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagagagaagagatggagaGagcgagcacaaatgtgccaa	16	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34949740G>A	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000382021.2_Silent_p.E426E			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			gagatggagagagcgagcaca	0.438																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1276-1278)gaG>gaA		DnaJ (Hsp40) homolog, subfamily C, member 21							90	86	87					5																	34949740		2203	4300	6503	SO:0001627	intron_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34949740G>A		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-535G>A	5.37:g.34949740G>A						DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron	p.E426E	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1505	+	all_lung(31;7.08e-05)		395					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Silent	SNP	ENST00000342382.4	37	c.1278G>A	CCDS34144.1																																																																																				0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		12	92	0	0	0	1	0	12	92					A	34949740	G	A	34949740	1	1	79	0	1	0	0	0	0	0	0	0	4656	933	33	2		2	DNAJC21	5	34949740	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125251	34949740	145965520	6048	16365											
AGXT2	64902	broad.mit.edu	37	chr5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcgtatctttgaattgctCaatatactgatctttagctt	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	267					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(799-801)Gag>Aag		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						118	103	108					5																	35026586		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35026586C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.799G>A	5.37:g.35026586C>T	ENSP00000231420:p.Glu267Lys						p.E267K	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	8	999	-	all_lung(31;4.52e-05)		267					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.799G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233410	0.22626	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.7	5.7	0.88788	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.329425	0.35838	N	0.002953	T	0.19485	0.0468	L	0.28014	0.82	0.40918	D	0.98428	B;B	0.30914	0.246;0.3	B;B	0.37091	0.241;0.105	T	0.04991	-1.0913	10	0.10111	T	0.7	-14.2225	19.438	0.94806	0.0:1.0:0.0:0.0	.	267;267	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	267	ENSP00000231420:E267K	ENSP00000231420:E267K	E	-	1	0	AGXT2	35062343	0.997000	0.39634	1.000000	0.80357	0.420000	0.31355	2.187000	0.42602	2.679000	0.91253	0.655000	0.94253	GAG		0.378	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		34	230	0	0	0	1	0	34	230					T	35026586	C	T	35026586	3	4	79	1	0	0	0	0	1	0	0	0	405	835	29	2	773	2	AGXT2	5	35026586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76846	35026586	145888674	6049	16366											
PRLR	5618	broad.mit.edu	37	chr5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaccccggacaccttgGcatactccttattgttctca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	547					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1639-1641)gCc>gAc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						95	87	90					5																	35065420		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065420G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1640C>A	5.37:g.35065420G>T	ENSP00000371432:p.Ala547Asp					PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000542609.1_Intron	p.A547D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2066	-	all_lung(31;3.83e-05)		547					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1640C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944679	0.34283	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89343	-2.5;-1.57;-2.5	5.77	4.9	0.64082	.	0.246910	0.46145	D	0.000310	D	0.92195	0.7525	M	0.74881	2.28	0.26422	N	0.976087	P;D	0.56035	0.956;0.974	P;P	0.54590	0.575;0.756	D	0.87310	0.2311	10	0.72032	D	0.01	-4.9035	14.5909	0.68365	0.0697:0.0:0.9303:0.0	.	547;446	P16471;P16471-2	PRLR_HUMAN;.	D	446;547;446	ENSP00000339213:A446D;ENSP00000371432:A547D;ENSP00000422556:A446D	ENSP00000339213:A446D	A	-	2	0	PRLR	35101177	0.614000	0.27017	0.307000	0.25127	0.035000	0.12851	4.279000	0.58953	1.444000	0.47605	0.655000	0.94253	GCC		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			43	283	1	0	9.14704e-12	1	9.77761e-12	43	283					T	35065420	G	T	35065420	3	4	79	1	0	0	0	0	1	0	0	0	12578	1203	42	3	232	3	PRLR	5	35065420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	35065420	145849840	6050	16367											
PRLR	5618	broad.mit.edu	37	chr5	35065452	35065452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctcaggagtcccgggCttcttgggcttgccgctgtt	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000382002.5	-	10	2034	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000310101.5_Missense_Mutation_p.A346T|PRLR_ENST00000511486.1_Silent_p.K435K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	536					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488																																						ENST00000310101.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1036-1038)Gcc>Acc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						86	84	85					5																	35065452		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065452C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1608G>A	5.37:g.35065452C>T						PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000382002.5_Silent_p.K536K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000542609.1_Intron	p.A346T	NM_001204315.1	NP_001191244.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		9	1035	-	all_lung(31;3.83e-05)		0					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1036G>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119560	0.08881	.	.	ENSG00000113494	ENST00000310101	T	0.76316	-1.01	5.77	2.92	0.33932	.	.	.	.	.	T	0.71937	0.3399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63752	-0.6566	6	0.62326	D	0.03	-2.6829	3.6693	0.08268	0.1317:0.4836:0.2567:0.128	.	.	.	.	T	346	ENSP00000309008:A346T	ENSP00000309008:A346T	A	-	1	0	PRLR	35101209	0.002000	0.14202	0.076000	0.20297	0.003000	0.03518	-0.165000	0.09968	0.304000	0.22809	0.655000	0.94253	GCC		0.488	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			51	312	0	0	0	1	0	51	312					T	35065452	C	T	35065452	2	4	79	1	0	0	0	0	0	0	0	1	12578	796	28	2		2	PRLR	5	35065452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32	35065452	145849808	6051	16368											
PRLR	5618	broad.mit.edu	37	chr5	35068880	35068880	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgagagacagtgaagtaCctatagcccttcaaagccac	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000511486.1_Splice_Site	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor						activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.e8+1		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						125	115	119					5																	35068880		2203	4300	6503	SO:0001630	splice_region_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35068880C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.785+1G>A	5.37:g.35068880C>T						PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000509934.1_Intron		NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		8	1212	-	all_lung(31;3.83e-05)							B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Splice_Site	SNP	ENST00000382002.5	37		CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667185	0.88251	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRLR	35104637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.173000	0.71937	2.882000	0.98803	0.655000	0.94253	.		0.398	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2		Intron	57	259	0	0	0	1	0	57	259					T	35068880	C	T	35068880	5	4	79	1	0	0	0	0	0	0	1	0	12578	521	18	2	1094	2	PRLR	5	35068880	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3428	35068880	145846380	6052	16369											
PRLR	5618	broad.mit.edu	37	chr5	35072836	35072836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagctccaaaggaggGtctggctgaactgcagaaat	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	128	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(382-384)gaC>gaT		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						97	92	94					5																	35072836		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35072836G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.384C>T	5.37:g.35072836G>A						PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR	p.D128D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		6	810	-	all_lung(31;3.83e-05)		128			Fibronectin type-III 2.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.384C>T	CCDS3909.1																																																																																				0.428	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			63	305	0	0	0	1	0	63	305					A	35072836	G	A	35072836	2	1	79	1	0	0	0	0	0	0	0	1	12578	1252	44	2		2	PRLR	5	35072836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3956	35072836	145842424	6053	16370											
SPEF2	79925	broad.mit.edu	37	chr5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttcatttgctgttaaaGgatgcttattggggaaaaca	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000356031.3	+	11	1838	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G562*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	562					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTGTTAAAGGATGCTTATT	0.403																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1684-1686)Gga>Tga		sperm flagellar 2							131	132	132					5																	35691298		1866	4092	5958	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691298G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1684G>T	5.37:g.35691298G>T	ENSP00000348314:p.Gly562*					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G562*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*	p.G562*			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1684	+	all_lung(31;7.56e-05)		562					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.1684G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879303	0.97055	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.6	5.6	0.85130	.	0.198962	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4062	0.87474	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;562;73	.	ENSP00000348314:G562X	G	+	1	0	SPEF2	35727055	1.000000	0.71417	0.970000	0.41538	0.456000	0.32438	4.705000	0.61838	2.628000	0.89032	0.585000	0.79938	GGA		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		83	407	1	0	5.56898e-48	1	6.86499e-48	83	407					T	35691298	G	T	35691298	4	4	79	1	0	0	0	0	0	1	0	0	15087	1001	35	3	1747	3	SPEF2	5	35691298	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	618462	35691298	145223962	6054	16371											
SPEF2	79925	broad.mit.edu	37	chr5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtttttagtaccttActgggaactaatagaaaatt	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000356031.3	+	22	3243	c.3089A>G	c.(3088-3090)tAc>tGc	p.Y1030C	SPEF2_ENST00000440995.2_Missense_Mutation_p.Y1025C|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1030					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAGTACCTTACTGGGAACTA	0.338																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3073-3075)tAc>tGc		sperm flagellar 2							77	71	73					5																	35740046		1826	4079	5905	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740046A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3089A>G	5.37:g.35740046A>G	ENSP00000348314:p.Tyr1030Cys					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1030C	p.Y1025C			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3074	+	all_lung(31;7.56e-05)		1030					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3074A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649146	0.67358	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.83	4.63	0.57726	.	0.217033	0.39146	N	0.001450	T	0.27241	0.0668	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	T	0.01056	-1.1466	10	0.72032	D	0.01	.	12.3798	0.55301	0.8742:0.0:0.0:0.1258	.	1025;1030	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1030;1025	ENSP00000348314:Y1030C;ENSP00000412125:Y1025C	ENSP00000348314:Y1030C	Y	+	2	0	SPEF2	35775803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	2.236000	0.73375	0.533000	0.62120	TAC		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		49	242	0	0	0	1	0	49	242					G	35740046	A	G	35740046	3	3	79	1	0	0	0	0	1	0	0	0	15087	391	14	4	3196	4	SPEF2	5	35740046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48748	35740046	145175214	6055	16372											
SPEF2	79925	broad.mit.edu	37	chr5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatgaggaaacaaaggCtgaactacatcaacgagtga	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000356031.3	+	23	3462	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	SPEF2_ENST00000440995.2_Missense_Mutation_p.A1098V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1103					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACAAAGGCTGAACTACAT	0.448																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3292-3294)gCt>gTt		sperm flagellar 2							148	134	139					5																	35740347		1961	4157	6118	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740347C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3308C>T	5.37:g.35740347C>T	ENSP00000348314:p.Ala1103Val					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.A1103V	p.A1098V			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		23	3293	+	all_lung(31;7.56e-05)		1103					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3293C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442304	0.83993	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08193	3.12;3.12	5.83	4.94	0.65067	.	0.328508	0.31082	N	0.008292	T	0.19685	0.0473	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.792	P;B	0.54270	0.747;0.326	T	0.00551	-1.1675	10	0.66056	D	0.02	.	12.3549	0.55169	0.1337:0.7376:0.1287:0.0	.	1098;1103	Q9C093-2;Q9C093	.;SPEF2_HUMAN	V	1103;1098	ENSP00000348314:A1103V;ENSP00000412125:A1098V	ENSP00000348314:A1103V	A	+	2	0	SPEF2	35776104	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.419000	0.47118	0.655000	0.94253	GCT		0.448	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		86	508	0	0	0	1	0	86	508					T	35740347	C	T	35740347	3	4	79	1	0	0	0	0	1	0	0	0	15087	797	28	2	3419	2	SPEF2	5	35740347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	35740347	145174913	6056	16373											
IL7R	3575	broad.mit.edu	37	chr5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgtgtaccaggacctcCtgcttagccttgggactaca	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	405					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGGACCTCCTGCTTAGCCT	0.542			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1213-1215)Ctg>Atg		interleukin 7 receptor							106	91	96					5																	35876421		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876421C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1213C>A	5.37:g.35876421C>A	ENSP00000306157:p.Leu405Met					IL7R_ENST00000343305.4_3'UTR	p.L405M	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1342	+	all_lung(31;0.00015)		405					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1213C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999598	0.19121	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.56611	1.57;0.45	5.6	1.84	0.25277	.	1.733490	0.03338	N	0.194382	T	0.67832	0.2935	M	0.66939	2.045	0.09310	N	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.30794	-0.9966	10	0.49607	T	0.09	-5.7828	4.1864	0.10400	0.1611:0.5833:0.0:0.2555	.	405	P16871	IL7RA_HUMAN	M	405;171	ENSP00000306157:L405M;ENSP00000420923:L171M	ENSP00000306157:L405M	L	+	1	2	IL7R	35912178	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.328000	0.19681	0.048000	0.15891	-0.961000	0.02630	CTG		0.542	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			55	230	1	0	9.72345e-25	1	1.11288e-24	55	230					A	35876421	C	A	35876421	3	1	79	1	0	0	0	0	1	0	0	0	7735	680	24	3	1243	3	IL7R	5	35876421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136074	35876421	145038839	6057	16374											
UGT3A1	133688	broad.mit.edu	37	chr5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggaggtcactctgaGgaagccagtccacaattttc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1057-1059)cCt>cTt		UDP glycosyltransferase 3 family, polypeptide A1							98	85	90					5																	35957307		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957307G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1058C>T	5.37:g.35957307G>A	ENSP00000274278:p.Pro353Leu					UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L	p.P353L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1415	-	all_lung(31;0.000197)		353					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1058C>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740034	0.49045	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	D;D;D	0.83163	-1.69;-1.69;-1.69	3.01	3.01	0.34805	.	0.076413	0.52532	D	0.000061	D	0.93527	0.7934	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.998	D	0.95307	0.8408	10	0.87932	D	0	.	13.5811	0.61903	0.0:0.0:1.0:0.0	.	319;353;353	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	L	353;353;319	ENSP00000274278:P353L;ENSP00000427079:P353L;ENSP00000426100:P319L	ENSP00000274278:P353L	P	-	2	0	UGT3A1	35993064	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	7.165000	0.77544	1.615000	0.50252	0.467000	0.42956	CCT		0.498	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		32	183	0	0	0	1	0	32	183					A	35957307	G	A	35957307	3	1	79	1	0	0	0	0	1	0	0	0	17017	1000	35	2	525	2	UGT3A1	5	35957307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80886	35957307	144957953	6058	16375											
UGT3A1	133688	broad.mit.edu	37	chr5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaaaatcaaaggcaaaAtcagagttaacaaaccacaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000274278.3	-	4	1113	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGCAAAATCAGAGTTAA	0.433																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(754-756)gaT>gaG		UDP glycosyltransferase 3 family, polypeptide A1							116	117	117					5																	35965575		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965575A>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.756T>G	5.37:g.35965575A>C	ENSP00000274278:p.Asp252Glu					UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E	p.D252E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1113	-	all_lung(31;0.000197)		252					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.756T>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617917	0.46736	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.05	0.95	0.19572	.	0.000000	0.64402	D	0.000001	T	0.73613	0.3609	M	0.88704	2.975	0.37020	D	0.896172	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.975;0.99;0.992;0.99	T	0.73119	-0.4083	10	0.32370	T	0.25	.	8.1298	0.31020	0.2254:0.0:0.7746:0.0	.	218;252;198;252	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	252;252;218;198	ENSP00000274278:D252E;ENSP00000427079:D252E;ENSP00000426100:D218E;ENSP00000328033:D198E	ENSP00000274278:D252E	D	-	3	2	UGT3A1	36001332	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	0.433000	0.21477	0.091000	0.17302	-0.736000	0.03550	GAT		0.433	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		77	388	0	0	0	1	0	77	388					C	35965575	A	C	35965575	3	2	79	1	0	0	0	0	1	0	0	0	17017	98	4	4	913	4	UGT3A1	5	35965575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8268	35965575	144949685	6059	16376											
UGT3A1	133688	broad.mit.edu	37	chr5	35965630	35965630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagacaaaactggcCtagagccttctgggaaatgc	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965630C>A	ENST00000274278.3	-	4	1058	c.701G>T	c.(700-702)aGg>aTg	p.R234M	UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(700-702)aGg>aTg		UDP glycosyltransferase 3 family, polypeptide A1							116	120	119					5																	35965630		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965630C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.701G>T	5.37:g.35965630C>A	ENSP00000274278:p.Arg234Met					UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200M	p.R234M	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1058	-	all_lung(31;0.000197)		234					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.701G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080064	0.36662	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	3.05	1.11	0.20524	.	0.164576	0.37136	N	0.002234	T	0.66268	0.2772	L	0.56199	1.76	0.27177	N	0.960757	D;D;P;D	0.89917	1.0;0.994;0.93;0.995	D;D;P;D	0.80764	0.994;0.971;0.79;0.971	T	0.58668	-0.7596	10	0.87932	D	0	.	8.5558	0.33480	0.0:0.7899:0.0:0.2101	.	200;234;180;234	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	M	234;234;200;180	ENSP00000274278:R234M;ENSP00000427079:R234M;ENSP00000426100:R200M;ENSP00000328033:R180M	ENSP00000274278:R234M	R	-	2	0	UGT3A1	36001387	0.765000	0.28485	0.887000	0.34795	0.557000	0.35523	1.062000	0.30555	0.083000	0.17047	0.313000	0.20887	AGG		0.438	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		84	406	1	0	9.34078e-37	1	1.11935e-36	84	406					A	35965630	C	A	35965630	3	1	79	1	0	0	0	0	1	0	0	0	17017	681	24	3	968	3	UGT3A1	5	35965630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	35965630	144949630	6060	16377											
UGT3A1	133688	broad.mit.edu	37	chr5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggtgggaagaatggCcacaaatggtttcacaagct	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000274278.3	-	4	847	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	164						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAATGGCCACAAATGGT	0.418																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(490-492)Gcc>Acc		UDP glycosyltransferase 3 family, polypeptide A1							73	70	71					5																	35965841		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965841C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.490G>A	5.37:g.35965841C>T	ENSP00000274278:p.Ala164Thr					UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T	p.A164T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	847	-	all_lung(31;0.000197)		164					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.490G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547282	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	2.93	-1.91	0.07641	.	0.258333	0.29119	N	0.013088	T	0.52901	0.1763	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.49358	0.923;0.571;0.317;0.237	P;B;B;B	0.51550	0.673;0.292;0.267;0.292	T	0.56475	-0.7973	10	0.72032	D	0.01	.	12.1012	0.53785	0.2525:0.7475:0.0:0.0	.	130;164;110;164	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	164;164;130;110	ENSP00000274278:A164T;ENSP00000427079:A164T;ENSP00000426100:A130T;ENSP00000328033:A110T	ENSP00000274278:A164T	A	-	1	0	UGT3A1	36001598	0.000000	0.05858	0.005000	0.12908	0.436000	0.31835	-0.692000	0.05127	-0.086000	0.12550	0.313000	0.20887	GCC		0.418	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		29	274	0	0	0	1	0	29	274					T	35965841	C	T	35965841	3	4	79	1	0	0	0	0	1	0	0	0	17017	739	26	2	1179	2	UGT3A1	5	35965841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	35965841	144949419	6061	16378											
UGT3A1	133688	broad.mit.edu	37	chr5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggaatccattatatcCtttctgcttagcaaataact	4	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000274278.3	-	4	741	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	128						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTATATCCTTTCTGCTTA	0.308																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(382-384)aaG>aaT		UDP glycosyltransferase 3 family, polypeptide A1							43	43	43					5																	35965947		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965947C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.384G>T	5.37:g.35965947C>A	ENSP00000274278:p.Lys128Asn					UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N	p.K128N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	741	-	all_lung(31;0.000197)		128					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.384G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762943	0.31228	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.0	0.921	0.19403	.	1.432420	0.04533	N	0.386617	T	0.55721	0.1938	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.17038	0.007;0.02;0.004;0.011	B;B;B;B	0.23716	0.015;0.048;0.007;0.033	T	0.44050	-0.9353	10	0.59425	D	0.04	.	3.3871	0.07276	0.4313:0.3496:0.0:0.2191	.	94;128;74;128	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	N	128;128;94;74	ENSP00000274278:K128N;ENSP00000427079:K128N;ENSP00000426100:K94N;ENSP00000328033:K74N	ENSP00000274278:K128N	K	-	3	2	UGT3A1	36001704	0.000000	0.05858	0.005000	0.12908	0.737000	0.42083	-0.697000	0.05098	0.029000	0.15352	0.313000	0.20887	AAG		0.308	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		41	231	1	0	4.17593e-13	1	4.50145e-13	41	231					A	35965947	C	A	35965947	3	1	79	1	0	0	0	0	1	0	0	0	17017	680	24	3	1285	3	UGT3A1	5	35965947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	35965947	144949313	6062	16379											
UGT3A1	133688	broad.mit.edu	37	chr5	35988604	35988604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtcacattatgaccatgCtcttgaagaatctgagacac	7	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35988604C>A	ENST00000274278.3	-	2	501	c.144G>T	c.(142-144)gaG>gaT	p.E48D	UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	48						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGACCATGCTCTTGAAGAA	0.343																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(142-144)gaG>gaT		UDP glycosyltransferase 3 family, polypeptide A1							89	85	87					5																	35988604		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988604C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.144G>T	5.37:g.35988604C>A	ENSP00000274278:p.Glu48Asp					UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron	p.E48D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	501	-	all_lung(31;0.000197)		48					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.144G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	1.370	-0.586342	0.03827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.61859	0.07;0.07	3.2	-3.12	0.05282	.	0.820851	0.10380	N	0.681632	T	0.16727	0.0402	N	0.00566	-1.37	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.21655	-1.0239	10	0.14656	T	0.56	.	2.8826	0.05652	0.2244:0.5073:0.1148:0.1535	.	48;48	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	D	48	ENSP00000274278:E48D;ENSP00000427079:E48D	ENSP00000274278:E48D	E	-	3	2	UGT3A1	36024361	0.716000	0.27956	0.976000	0.42696	0.404000	0.30871	-0.858000	0.04281	-0.339000	0.08401	-0.538000	0.04264	GAG		0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		15	229	1	0	5.01169e-05	1	5.1097e-05	15	229					A	35988604	C	A	35988604	3	1	79	1	0	0	0	0	1	0	0	0	17017	796	28	3	1533	3	UGT3A1	5	35988604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22657	35988604	144926656	6063	16380											
UGT3A2	167127	broad.mit.edu	37	chr5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggatggcctccattatgCtattctgcccgccgtgggtg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000282507.3	-	6	1222	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	374					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCATTATGCTATTCTGCCC	0.493																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1120-1122)aGc>aAc		UDP glycosyltransferase 3 family, polypeptide A2							78	81	80					5																	36038073		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36038073C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1121G>A	5.37:g.36038073C>T	ENSP00000282507:p.Ser374Asn					UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	p.S374N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1222	-	all_lung(31;0.000179)		374					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1121G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707516	0.68615	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76578	-1.03;-1.03;2.04	3.32	3.32	0.38043	.	0.000000	0.85682	U	0.000000	D	0.90793	0.7109	H	0.95402	3.665	0.41111	D	0.985742	P;D	0.89917	0.89;1.0	P;D	0.76071	0.758;0.987	D	0.93692	0.7008	10	0.87932	D	0	.	14.5961	0.68407	0.0:1.0:0.0:0.0	.	340;374	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	374;340;72	ENSP00000282507:S374N;ENSP00000427404:S340N;ENSP00000445367:S72N	ENSP00000282507:S374N	S	-	2	0	UGT3A2	36073830	0.866000	0.29940	0.464000	0.27143	0.662000	0.39071	4.879000	0.63100	2.159000	0.67721	0.563000	0.77884	AGC		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		86	392	0	0	0	1	0	86	392					T	36038073	C	T	36038073	3	4	79	1	0	0	0	0	1	0	0	0	17018	797	28	2	458	2	UGT3A2	5	36038073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49469	36038073	144877187	6064	16381											
UGT3A2	167127	broad.mit.edu	37	chr5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgttgggaagcagaggtCgagcaaaatcaaaggcaaag	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000282507.3	-	4	877	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGAGGTCGAGCAAAATC	0.423																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(775-777)cGa>cAa		UDP glycosyltransferase 3 family, polypeptide A2							137	132	134					5																	36049058		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049058C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.776G>A	5.37:g.36049058C>T	ENSP00000282507:p.Arg259Gln					UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	p.R259Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	877	-	all_lung(31;0.000179)		259					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.776G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611891	0.46631	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61510	0.1;0.1	3.45	2.58	0.30949	.	0.305261	0.27495	N	0.019106	T	0.50463	0.1617	M	0.75150	2.29	0.80722	D	1	B;P	0.38711	0.327;0.643	B;B	0.33196	0.148;0.159	T	0.53627	-0.8412	10	0.54805	T	0.06	.	7.1791	0.25761	0.0:0.7815:0.0:0.2185	.	225;259	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	259;225	ENSP00000282507:R259Q;ENSP00000427404:R225Q	ENSP00000282507:R259Q	R	-	2	0	UGT3A2	36084815	0.005000	0.15991	0.830000	0.32933	0.940000	0.58332	1.044000	0.30329	1.034000	0.39945	0.655000	0.94253	CGA		0.423	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		89	394	0	0	0	1	0	89	394					T	36049058	C	T	36049058	3	4	79	1	0	0	0	0	1	0	0	0	17018	884	31	1	811	1	UGT3A2	5	36049058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10985	36049058	144866202	6065	16382											
LMBRD2	92255	broad.mit.edu	37	chr5	36108727	36108727	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctattgtgtccataAcgttctttccattcctagaa	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	602						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGTCCATAACGTTCTTTCC	0.303																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1804-1806)cgT>cgG		LMBR1 domain containing 2							119	110	113					5																	36108727		2202	4300	6502	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36108727A>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1806T>G	5.37:g.36108727A>C							p.R602R	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2268	-	all_lung(31;0.000146)		602					B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.1806T>G	CCDS34145.1																																																																																				0.303	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		25	94	0	0	0	1	0	25	94					C	36108727	A	C	36108727	2	2	79	1	0	0	0	0	0	0	0	1	8876	30	2	4		4	LMBRD2	5	36108727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59669	36108727	144806533	6066	16383											
LMBRD2	92255	broad.mit.edu	37	chr5	36122989	36122989	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacttttttcacttggataGatactatgcttttcatcaaa	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTGGATAGATACTATGCT	0.269																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(895-897)atC>atT		LMBR1 domain containing 2							70	75	73					5																	36122989		2201	4288	6489	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36122989G>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.897C>T	5.37:g.36122989G>A							p.I299I	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1359	-	all_lung(31;0.000146)		299					B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.897C>T	CCDS34145.1																																																																																				0.269	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		23	282	0	0	0	1	0	23	282					A	36122989	G	A	36122989	2	1	79	1	0	0	0	0	0	0	0	1	8876	932	33	2		2	LMBRD2	5	36122989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14262	36122989	144792271	6067	16384											
LMBRD2	92255	broad.mit.edu	37	chr5	36141208	36141208	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatttactgtaacttaCcatgttaaaaattgtgacgt	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTAACTTACCATGTTAAAA	0.313																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e4+1		LMBR1 domain containing 2							66	64	65					5																	36141208		2203	4300	6503	SO:0001630	splice_region_variant	92255					integral to membrane		g.chr5:36141208C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.368+1G>A	5.37:g.36141208C>T								NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	831	-	all_lung(31;0.000146)							B3KRB6|Q9NTC7	Splice_Site	SNP	ENST00000296603.4	37		CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315342	0.81358	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBRD2	36176965	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.350000	0.79385	2.491000	0.84063	0.650000	0.86243	.		0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	Intron	45	228	0	0	0	1	0	45	228					T	36141208	C	T	36141208	5	4	79	1	0	0	0	0	0	0	1	0	8876	521	18	2	1778	2	LMBRD2	5	36141208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18219	36141208	144774052	6068	16385											
SKP2	6502	broad.mit.edu	37	chr5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtaagaggtggtatcGcctagcgtaagtatttttca	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36163852G>A	ENST00000274255.6	+	3	582	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(385-387)cGc>cAc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							130	111	117					5																	36163852		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36163852G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.386G>A	5.37:g.36163852G>A	ENSP00000274255:p.Arg129His					SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000546211.1_Intron	p.R129H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	582	+	all_lung(31;5.63e-05)		129			F-box.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.386G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251126	0.39797	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.49139	0.79;0.79;0.79	4.92	3.98	0.46160	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.302114	0.42548	N	0.000698	T	0.39545	0.1082	L	0.61218	1.895	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.21245	-1.0251	10	0.20519	T	0.43	-0.2876	6.773	0.23604	0.1526:0.0:0.8474:0.0	.	129;129	Q13309-2;Q13309	.;SKP2_HUMAN	H	129;129;95;129	ENSP00000274254:R129H;ENSP00000274255:R129H;ENSP00000423188:R129H	ENSP00000274254:R129H	R	+	2	0	SKP2	36199609	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.403000	0.66338	1.287000	0.44583	0.650000	0.86243	CGC		0.468	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		6	235	0	0	0	1	0	6	235					A	36163852	G	A	36163852	3	1	79	1	0	0	0	0	1	0	0	0	14412	1087	38	1	396	1	SKP2	5	36163852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22644	36163852	144751408	6069	16386											
SKP2	6502	broad.mit.edu	37	chr5	36168460	36168460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcgaactcagttatagaAgtgtccaccctccacggcat	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(580-582)gaA>gaG		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							238	243	241					5																	36168460		2203	4300	6503	SO:0001819	synonymous_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168460A>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.582A>G	5.37:g.36168460A>G						SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000546211.1_Intron	p.E194E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	778	+	all_lung(31;5.63e-05)		194					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.582A>G	CCDS3916.1																																																																																				0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		260	1025	0	0	0	1	0	260	1025					G	36168460	A	G	36168460	2	3	79	1	0	0	0	0	0	0	0	1	14412	69	3	4		4	SKP2	5	36168460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4608	36168460	144746800	6070	16387											
C5orf33	133686	broad.mit.edu	37	chr5	36225652	36225652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcttaccgttctggAtcagtgtttacccctataac	6	11	4	0	rs556194146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36225652A>G	ENST00000381937.4	-	4	551	c.552T>C	c.(550-552)gaT>gaC	p.D184D	NADK2_ENST00000506945.1_Silent_p.D21D|NADK2_ENST00000514504.1_Silent_p.D184D|NADK2_ENST00000397338.1_Silent_p.D21D|NADK2_ENST00000282512.3_Silent_p.D21D	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	184					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										ACCGTTCTGGATCAGTGTTTA	0.363																																						ENST00000397338.1																			0											c.(61-63)gaT>gaC		NAD kinase 2, mitochondrial							160	143	149					5																	36225652		2203	4300	6503	SO:0001819	synonymous_variant	133686							g.chr5:36225652A>G	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.552T>C	5.37:g.36225652A>G						NADK2_ENST00000506945.1_Silent_p.D21D|NADK2_ENST00000381937.4_Silent_p.D184D|NADK2_ENST00000282512.3_Silent_p.D21D|NADK2_ENST00000514504.1_Silent_p.D184D	p.D21D							4	284	-								B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	c.63T>C	CCDS47197.1																																																																																				0.363	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		34	452	0	0	0	1	0	34	452					G	36225652	A	G	36225652	2	3	79	1	0	0	0	0	0	0	0	1	2299	330	12	4		4	C5orf33	5	36225652	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57192	36225652	144689608	6071	16388											
RANBP3L	202151	broad.mit.edu	37	chr5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgttccacagtcagtgCttgctgtgtcattcagtctc	9	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	331	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(991-993)aGc>aTc		RAN binding protein 3-like							211	170	184					5																	36255604		2203	4299	6502	SO:0001583	missense	202151				intracellular transport			g.chr5:36255604C>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.992G>T	5.37:g.36255604C>A	ENSP00000296604:p.Ser331Ile					RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	p.S331I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		11	1477	-	all_lung(31;4.52e-05)		331			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.992G>T	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641773	0.67244	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.44083	0.93;0.93	5.87	3.89	0.44902	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.454909	0.24345	N	0.039337	T	0.60196	0.2250	M	0.77313	2.365	0.39277	D	0.964496	D;D	0.61080	0.984;0.989	D;D	0.68943	0.961;0.919	T	0.65483	-0.6157	10	0.87932	D	0	-0.023	8.1223	0.30978	0.0:0.7124:0.1307:0.1569	.	356;331	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	331;356	ENSP00000296604:S331I;ENSP00000421853:S356I	ENSP00000296604:S331I	S	-	2	0	RANBP3L	36291361	0.827000	0.29292	0.990000	0.47175	0.982000	0.71751	1.325000	0.33724	1.463000	0.47967	0.655000	0.94253	AGC		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		59	428	1	0	7.92265e-33	1	9.37054e-33	59	428					A	36255604	C	A	36255604	3	1	79	1	0	0	0	0	1	0	0	0	13080	797	28	3	421	3	RANBP3L	5	36255604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29952	36255604	144659656	6072	16389											
NIPBL	25836	broad.mit.edu	37	chr5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaattccatgcacagtagtCctgcatcttccaattatcaa	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	137					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)			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)			GCACAGTAGTCCTGCATCTTC	0.328																																						ENST00000282516.8																			0				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						c.(409-411)Cct>Tct		Nipped-B homolog (Drosophila)							150	148	149					5																	36961636		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.chr5:36961636C>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.409C>T	5.37:g.36961636C>T	ENSP00000282516:p.Pro137Ser					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		5	908	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		137					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.409C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164427	0.78339	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.01	5.01	0.66863	.	0.204155	0.42821	D	0.000642	D	0.96531	0.8868	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.69078	0.994;0.997	P;P	0.59357	0.637;0.856	D	0.95418	0.8504	10	0.30078	T	0.28	.	18.2672	0.90055	0.0:1.0:0.0:0.0	.	137;137	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	137	ENSP00000282516:P137S;ENSP00000406266:P137S	ENSP00000282516:P137S	P	+	1	0	NIPBL	36997393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.481000	0.83766	0.655000	0.94253	CCT		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		70	387	0	0	0	1	0	70	387					T	36961636	C	T	36961636	3	4	79	1	0	0	0	0	1	0	0	0	10470	855	30	2	423	2	NIPBL	5	36961636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706032	36961636	143953624	6073	16390											
NIPBL	25836	broad.mit.edu	37	chr5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatgaaggaagaaggaGttcaggtggtggtcgttatc	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1140					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)			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)			GGAAGAAGGAGTTCAGGTGGT	0.453																																						ENST00000282516.8																			0				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						c.(3418-3420)aGt>aAt		Nipped-B homolog (Drosophila)							169	163	165					5																	37000589		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000589G>A	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.3419G>A	5.37:g.37000589G>A	ENSP00000282516:p.Ser1140Asn					NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		12	3918	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1140					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3419G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975683	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93366	-3.21;-3.21	5.81	5.81	0.92471	.	0.098581	0.64402	D	0.000001	D	0.84306	0.5443	N	0.08118	0	0.36449	D	0.865984	B;B	0.30281	0.039;0.275	B;B	0.27715	0.011;0.082	D	0.84191	0.0445	10	0.25106	T	0.35	.	12.7995	0.57578	0.0:0.1238:0.7477:0.1285	.	1140;1140	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1140	ENSP00000282516:S1140N;ENSP00000406266:S1140N	ENSP00000282516:S1140N	S	+	2	0	NIPBL	37036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.759000	0.94783	0.591000	0.81541	AGT		0.453	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		68	349	0	0	0	1	0	68	349					A	37000589	G	A	37000589	3	1	79	1	0	0	0	0	1	0	0	0	10470	1029	36	2	3461	2	NIPBL	5	37000589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38953	37000589	143914671	6074	16391											
NIPBL	25836	broad.mit.edu	37	chr5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaccaaaactaacacCtgaaggtaacacgttagttt	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1190					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)			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)			AAACTAACACCTGAAGGTAAC	0.299																																						ENST00000282516.8																			0				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						c.(3568-3570)cCt>cAt		Nipped-B homolog (Drosophila)							79	79	79					5																	37000985		2202	4298	6500	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.chr5:37000985C>A	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.3569C>A	5.37:g.37000985C>A	ENSP00000282516:p.Pro1190His					NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		13	4068	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1190					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3569C>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126788	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.19;-3.2	5.91	5.91	0.95273	.	0.125114	0.56097	D	0.000033	D	0.90086	0.6903	L	0.36672	1.1	0.42382	D	0.992496	B;B	0.30741	0.293;0.261	B;B	0.19946	0.022;0.027	D	0.87524	0.2448	10	0.52906	T	0.07	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1190;1190	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1190	ENSP00000282516:P1190H;ENSP00000406266:P1190H	ENSP00000282516:P1190H	P	+	2	0	NIPBL	37036742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.719000	0.47244	2.791000	0.96007	0.650000	0.86243	CCT		0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		26	126	1	0	2.44723e-14	1	2.65813e-14	26	126					A	37000985	C	A	37000985	3	1	79	1	0	0	0	0	1	0	0	0	10470	681	24	3	3615	3	NIPBL	5	37000985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	37000985	143914275	6075	16392											
NIPBL	25836	broad.mit.edu	37	chr5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctttccagttttctcGtaaattctatatagcccagt	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1673					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)			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)			CAGTTTTCTCGTAAATTCTAT	0.343																																						ENST00000282516.8																			0				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						c.(5017-5019)cGt>cAt		Nipped-B homolog (Drosophila)							67	62	64					5																	37020568		2203	4297	6500	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.chr5:37020568G>A	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.5018G>A	5.37:g.37020568G>A	ENSP00000282516:p.Arg1673His					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		26	5517	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1673					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5018G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592420	0.86953	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94280	-3.39;-3.39	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.69523	2.12	0.58432	D	0.999998	P;D	0.55385	0.915;0.971	B;P	0.49451	0.406;0.611	D	0.93068	0.6480	10	0.31617	T	0.26	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	1673;1673	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1673	ENSP00000282516:R1673H;ENSP00000406266:R1673H	ENSP00000282516:R1673H	R	+	2	0	NIPBL	37056325	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.403000	0.73264	2.647000	0.89833	0.585000	0.79938	CGT		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		29	179	0	0	0	1	0	29	179					A	37020568	G	A	37020568	3	1	79	1	0	0	0	0	1	0	0	0	10470	1145	40	1	5116	1	NIPBL	5	37020568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19583	37020568	143894692	6076	16393											
NIPBL	25836	broad.mit.edu	37	chr5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgttggagcactatgtcGgcattttgattttgatctgg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					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)			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)			GCACTATGTCGGCATTTTGAT	0.363																																						ENST00000282516.8																			0				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						c.(6454-6456)cGg>cAg		Nipped-B homolog (Drosophila)							204	210	208					5																	37045656		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37045656G>A	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.6455G>A	5.37:g.37045656G>A	ENSP00000282516:p.Arg2152Gln					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		37	6954	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2152					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6455G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601606	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65732	-0.17;-0.17	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.77225	-0.2666	10	0.51188	T	0.08	-7.466	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	2152	ENSP00000282516:R2152Q;ENSP00000406266:R2152Q	ENSP00000282516:R2152Q	R	+	2	0	NIPBL	37081413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.388000	0.97237	2.753000	0.94483	0.557000	0.71058	CGG		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		218	886	0	0	0	1	0	218	886					A	37045656	G	A	37045656	3	1	79	1	0	0	0	0	1	0	0	0	10470	1116	39	1	6597	1	NIPBL	5	37045656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25088	37045656	143869604	6077	16394											
NIPBL	25836	broad.mit.edu	37	chr5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T													gggcacagacccagaacctgCtatgcggaacaaggctgatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2333					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)			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)			CCAGAACCTGCTATGCGGAAC	0.318																																						ENST00000282516.8																			0				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						c.(6997-6999)gCt>gTt		Nipped-B homolog (Drosophila)							85	89	87					5																	37051924		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051924C>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.6998C>T	5.37:g.37051924C>T	ENSP00000282516:p.Ala2333Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7497	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2333					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6998C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.177968	0.49916	D	0.000135	T	0.41949	0.1181	N	0.04090	-0.28	0.43110	D	0.99481	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.009;0.012;0.005	T	0.37663	-0.9696	10	0.11794	T	0.64	-12.0814	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2333;2333;2333	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2333	ENSP00000282516:A2333V;ENSP00000406266:A2333V	ENSP00000282516:A2333V	A	+	2	0	NIPBL	37087681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.685000	0.91497	0.557000	0.71058	GCT		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		59	213	0	0	0	1	0	59	213					T	37051924	C	T	37051924	3	4	79	1	0	0	0	0	1	0	0	0	10470	797	28	2	7156	2	NIPBL	5	37051924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6268	37051924	143863336	6078	16395	96	2									
NIPBL	25836	broad.mit.edu	37	chr5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T													cagacccagaacctgctatgCggaacaaggctgatcagcaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2335					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)			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)			ACCTGCTATGCGGAACAAGGC	0.313																																						ENST00000282516.8																			0				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						c.(7003-7005)Cgg>Tgg		Nipped-B homolog (Drosophila)							82	87	85					5																	37051929		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051929C>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.7003C>T	5.37:g.37051929C>T	ENSP00000282516:p.Arg2335Trp					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7502	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2335					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7003C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828942	0.71258	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.73363	-0.74;-0.74	5.69	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.81341	2.54	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.985	D	0.86754	0.1962	10	0.72032	D	0.01	-6.7737	14.2046	0.65725	0.4468:0.5532:0.0:0.0	.	2335;2335;2335	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2335	ENSP00000282516:R2335W;ENSP00000406266:R2335W	ENSP00000282516:R2335W	R	+	1	2	NIPBL	37087686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.838000	0.39211	0.593000	0.29745	0.557000	0.71058	CGG		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		44	231	0	0	0	1	0	44	231					T	37051929	C	T	37051929	3	4	79	1	0	0	0	0	1	0	0	0	10470	759	27	1	7161	1	NIPBL	5	37051929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37051929	143863331	6079	16396	96	2									
NIPBL	25836	broad.mit.edu	37	chr5	37059079	37059079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagaagaagtttccagGcctcggaagtcacggaaacg	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2499					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)			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)			AAGTTTCCAGGCCTCGGAAGT	0.378																																						ENST00000282516.8																			0				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						c.(7495-7497)agG>agA		Nipped-B homolog (Drosophila)							121	123	122					5																	37059079		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:37059079G>A	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.7497G>A	5.37:g.37059079G>A						NIPBL_ENST00000448238.2_Silent_p.R2499R	p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	7996	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2499					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.7497G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103346	0.20632	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.85	0.934	0.19477	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-10.4478	6.6505	0.22959	0.3878:0.1117:0.5005:0.0	.	.	.	.	D	5	.	.	G	+	2	0	NIPBL	37094836	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.177000	0.31969	0.098000	0.17522	-0.251000	0.11542	GGC		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		64	392	0	0	0	1	0	64	392					A	37059079	G	A	37059079	2	1	79	1	0	0	0	0	0	0	0	1	10470	1194	42	2		2	NIPBL	5	37059079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7150	37059079	143856181	6080	16397											
C5orf42	65250	broad.mit.edu	37	chr5	37138820	37138820	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaattattcaatgattAcctggaggtgcccatagctt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000508244.1	-	44	8724		c.e44+1		C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAATGATTACCTGGAGGTG	0.308																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.e45+1		chromosome 5 open reading frame 42							118	123	122					5																	37138820		2203	4300	6503	SO:0001630	splice_region_variant	65250							g.chr5:37138820A>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8630+1T>C	5.37:g.37138820A>G						C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		45	8912	-	all_lung(31;0.000616)							A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	37		CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387604	0.42308	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1914	0.59713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37174577	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.857000	0.62939	2.112000	0.64535	0.533000	0.62120	.		0.308	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Intron	33	441	0	0	0	1	0	33	441					G	37138820	A	G	37138820	5	3	79	1	0	0	0	0	0	0	1	0	2308	405	14	4	993	4	C5orf42	5	37138820	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79741	37138820	143776440	6081	16398											
C5orf42	65250	broad.mit.edu	37	chr5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagttccacctggagttgCtactgcaactgaaccgccag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000508244.1	-	26	5602	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T|C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1837						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGTTGCTACTGCAACT	0.408																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2152-2154)Gca>Aca		chromosome 5 open reading frame 42							73	68	70					5																	37181020		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37181020C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5509G>A	5.37:g.37181020C>T	ENSP00000421690:p.Ala1837Thr					C5orf42_ENST00000508244.1_Missense_Mutation_p.A1837T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T	p.A718T			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		27	5739	-	all_lung(31;0.000616)		1837					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.2152G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988272	0.53934	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.49	-3.59	0.04583	.	1.663970	0.03492	N	0.216836	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.10450	0.005;0.005	T	0.22417	-1.0217	10	0.02654	T	1	.	1.5266	0.02526	0.1462:0.3921:0.1864:0.2753	.	1837;718	E9PH94;Q9H799	.;CE042_HUMAN	T	1837;1837;718;885;718	ENSP00000421690:A1837T;ENSP00000389014:A1837T;ENSP00000274258:A718T;ENSP00000424223:A885T	ENSP00000274258:A718T	A	-	1	0	C5orf42	37216777	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.426000	0.07008	-0.310000	0.08766	0.655000	0.94253	GCA		0.408	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		42	212	0	0	0	1	0	42	212					T	37181020	C	T	37181020	3	4	79	1	0	0	0	0	1	0	0	0	2308	797	28	2	4188	2	C5orf42	5	37181020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42200	37181020	143734240	6082	16399											
C5orf42	65250	broad.mit.edu	37	chr5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccatattaaaaaacCgagagaaaggcagcattcta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000508244.1	-	22	4100	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q|C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1336			R -> W (in JBTS17). {ECO:0000269|PubMed:22425360}.			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTAAAAAACCGAGAGAAAGG	0.378																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(649-651)cGg>cAg		chromosome 5 open reading frame 42							81	81	81					5																	37187589		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187589C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4007G>A	5.37:g.37187589C>T	ENSP00000421690:p.Arg1336Gln					C5orf42_ENST00000508244.1_Missense_Mutation_p.R1336Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q	p.R217Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		23	4237	-	all_lung(31;0.000616)		1336					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.650G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	35	5.421270	0.96111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27256	1.72;1.72;1.68;1.69	5.53	5.53	0.82687	.	0.000000	0.40640	N	0.001043	T	0.40694	0.1127	N	0.24115	0.695	0.35035	D	0.759169	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49542	-0.8929	10	0.62326	D	0.03	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1336;217	E9PH94;Q9H799	.;CE042_HUMAN	Q	1336;1336;217;384;217	ENSP00000421690:R1336Q;ENSP00000389014:R1336Q;ENSP00000274258:R217Q;ENSP00000424223:R384Q	ENSP00000274258:R217Q	R	-	2	0	C5orf42	37223346	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.992000	0.56980	2.755000	0.94549	0.491000	0.48974	CGG		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		41	234	0	0	0	1	0	41	234					T	37187589	C	T	37187589	3	4	79	1	0	0	0	0	1	0	0	0	2308	652	23	1	5706	1	C5orf42	5	37187589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6569	37187589	143727671	6083	16400											
C5orf42	65250	broad.mit.edu	37	chr5	37187945	37187945	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagttctctgaagcaacCtaaagcaggaacacaaatat	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000508244.1	-	21	3905		c.e21-1		C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAAGCAACCTAAAGCAGGA	0.343																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.e22-1		chromosome 5 open reading frame 42							69	66	67					5																	37187945		2203	4300	6503	SO:0001630	splice_region_variant	65250							g.chr5:37187945C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3812-1G>A	5.37:g.37187945C>T						C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		22	4042	-	all_lung(31;0.000616)							A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	37		CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003492	0.54254	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2017	0.54331	0.0:0.8613:0.0:0.1387	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37223702	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	4.907000	0.63300	0.810000	0.34279	0.491000	0.48974	.		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Intron	25	133	0	0	0	1	0	25	133					T	37187945	C	T	37187945	5	4	79	1	0	0	0	0	0	0	1	0	2308	695	24	2	5906	2	C5orf42	5	37187945	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356	37187945	143727315	6084	16401											
C5orf42	65250	broad.mit.edu	37	chr5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actaagaatagctggctgggGacagtacaatggaggagctg	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000508244.1	-	18	3577	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T|C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1162						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTGGCTGGGGACAGTACAAT	0.353																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(127-129)Ccc>Acc		chromosome 5 open reading frame 42							87	89	89					5																	37201716		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37201716G>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3484C>A	5.37:g.37201716G>T	ENSP00000421690:p.Pro1162Thr					C5orf42_ENST00000508244.1_Missense_Mutation_p.P1162T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T	p.P43T			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		19	3714	-	all_lung(31;0.000616)		1162					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.127C>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675047	0.88445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.78003	-0.98;-0.98;-1.14;-1.12	5.48	4.6	0.57074	.	0.165071	0.29185	N	0.012897	T	0.81211	0.4775	L	0.29908	0.895	0.46654	D	0.999146	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	D	0.83379	0.0011	10	0.87932	D	0	.	14.1668	0.65483	0.0724:0.0:0.9276:0.0	.	1162;43	E9PH94;Q9H799	.;CE042_HUMAN	T	1162;1162;43;210;43	ENSP00000421690:P1162T;ENSP00000389014:P1162T;ENSP00000274258:P43T;ENSP00000424223:P210T	ENSP00000274258:P43T	P	-	1	0	C5orf42	37237473	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.992000	0.93519	1.315000	0.45114	0.313000	0.20887	CCC		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		75	356	1	0	2.93416e-43	1	3.58019e-43	75	356					T	37201716	G	T	37201716	3	4	79	1	0	0	0	0	1	0	0	0	2308	1174	41	3	6245	3	C5orf42	5	37201716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13771	37201716	143713544	6085	16402											
NUP155	9631	broad.mit.edu	37	chr5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctagaaattcctgcaaacCctttagttcttgtagcactg	7	10	2	1	rs200783324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000381843.2_Missense_Mutation_p.G657S|NUP155_ENST00000513532.1_Missense_Mutation_p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	716					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGCAAACCCTTTAGTTCT	0.353																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(2146-2148)Ggt>Agt		nucleoporin 155kDa							80	81	81					5																	37324155		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37324155C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2146G>A	5.37:g.37324155C>T	ENSP00000231498:p.Gly716Ser					NUP155_ENST00000513532.1_Missense_Mutation_p.G716S|NUP155_ENST00000381843.2_Missense_Mutation_p.G657S	p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2349	-	all_lung(31;0.000137)		716					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2146G>A	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103159	0.56183	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75260	-0.91;-0.92;-0.83	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045015	0.85682	D	0.000000	T	0.64897	0.2640	N	0.21097	0.63	0.80722	D	1	B;B	0.25486	0.127;0.008	B;B	0.34991	0.193;0.046	T	0.59418	-0.7458	10	0.02654	T	1	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	716;716	E9PF10;O75694	.;NU155_HUMAN	S	716;657;678;716	ENSP00000231498:G716S;ENSP00000371265:G657S;ENSP00000422019:G716S	ENSP00000231498:G716S	G	-	1	0	NUP155	37359912	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.876000	0.75556	2.725000	0.93324	0.655000	0.94253	GGT		0.353	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		43	220	0	0	0	1	0	43	220					T	37324155	C	T	37324155	3	4	79	1	0	0	0	0	1	0	0	0	10798	623	22	2	2093	2	NUP155	5	37324155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122439	37324155	143591105	6086	16403											
NUP155	9631	broad.mit.edu	37	chr5	37331826	37331826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaatctcttctccatcTcctcccacattactcacaag	1	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	530					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTCCATCTCCTCCCACAT	0.328																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(1588-1590)ggA>ggG		nucleoporin 155kDa							93	91	92					5																	37331826		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37331826T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1590A>G	5.37:g.37331826T>C						NUP155_ENST00000513532.1_Silent_p.G530G|NUP155_ENST00000381843.2_Silent_p.G471G	p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	1793	-	all_lung(31;0.000137)		530					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.1590A>G	CCDS3921.1																																																																																				0.328	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		79	312	0	0	0	1	0	79	312					C	37331826	T	C	37331826	2	2	79	1	0	0	0	0	0	0	0	1	10798	1538	54	4		4	NUP155	5	37331826	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7671	37331826	143583434	6087	16404											
WDR70	55100	broad.mit.edu	37	chr5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattacagtatagtaacacaGgagacatgattcttgttgta	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000265107.4	+	8	877	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	241							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTAACACAGGAGACATGAT	0.348																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(721-723)Gga>Tga		WD repeat domain 70							231	215	221					5																	37479970		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37479970G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.721G>T	5.37:g.37479970G>T	ENSP00000265107:p.Gly241*					WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	p.G241*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	877	+	all_lung(31;0.000285)		241					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.721G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	40	8.390321	0.98791	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.2527	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000265107:G241X	G	+	1	0	WDR70	37515727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.633000	0.89246	0.655000	0.94253	GGA		0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		130	572	1	0	9.77321e-77	1	1.24726e-76	130	572					T	37479970	G	T	37479970	4	4	79	1	0	0	0	0	0	1	0	0	17375	1001	35	3	751	3	WDR70	5	37479970	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148144	37479970	143435290	6088	16405											
WDR70	55100	broad.mit.edu	37	chr5	37723012	37723012	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggcaaaacaagctgagactCtaactcaggactacatcatc	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	525							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTGAGACTCTAACTCAGGA	0.403																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1573-1575)Cta>Tta		WD repeat domain 70							155	145	149					5																	37723012		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37723012C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1573C>T	5.37:g.37723012C>T							p.L525L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	1729	+	all_lung(31;0.000285)		525					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1573C>T	CCDS34147.1																																																																																				0.403	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		60	283	0	0	0	1	0	60	283					T	37723012	C	T	37723012	2	4	79	1	0	0	0	0	0	0	0	1	17375	912	32	2		2	WDR70	5	37723012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243042	37723012	143192248	6089	16406											
EGFLAM	133584	broad.mit.edu	37	chr5	38407154	38407154	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgccttgtgatgaaactctCtgctctgctgacagcttctg	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000354891.3	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000322350.5_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1051-1053)ctC>ctA		EGF-like, fibronectin type III and laminin G domains							111	105	107					5																	38407154		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407154C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1053C>A	5.37:g.38407154C>A						EGFLAM_ENST00000354891.3_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	p.L351L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1399	+	all_lung(31;0.000385)		351			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1053C>A	CCDS56363.1																																																																																				0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		14	341	1	0	2.61681e-11	1	2.78987e-11	14	341					A	38407154	C	A	38407154	2	1	79	1	0	0	0	0	0	0	0	1	4982	900	32	3		3	EGFLAM	5	38407154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684142	38407154	142508106	6090	16407											
EGFLAM	133584	broad.mit.edu	37	chr5	38409193	38409193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctatcatccgacgcTccctgcagttcaggtaattc	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38409193T>G	ENST00000354891.3	+	10	1682	c.1336T>G	c.(1336-1338)Tcc>Gcc	p.S446A	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	446	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCCGACGCTCCCTGCAGTT	0.433																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1336-1338)Tcc>Gcc		EGF-like, fibronectin type III and laminin G domains							69	60	63					5																	38409193		2203	4299	6502	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38409193T>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1336T>G	5.37:g.38409193T>G	ENSP00000346964:p.Ser446Ala					EGFLAM_ENST00000354891.3_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron	p.S446A	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			10	1682	+	all_lung(31;0.000385)		446			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1336T>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410940	0.25465	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.75367	-0.93;-0.93;-0.93	5.82	0.287	0.15714	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.296656	0.35495	N	0.003162	T	0.54303	0.1850	L	0.28115	0.83	0.09310	N	0.999999	B;B;B	0.21147	0.052;0.04;0.035	B;B;B	0.24006	0.029;0.05;0.026	T	0.33954	-0.9848	10	0.17369	T	0.5	-23.2083	6.6251	0.22824	0.3549:0.0:0.3772:0.2679	.	212;446;446	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	A	446;446;212;212	ENSP00000346964:S446A;ENSP00000313084:S446A;ENSP00000337607:S212A	ENSP00000313084:S446A	S	+	1	0	EGFLAM	38444950	0.028000	0.19301	0.001000	0.08648	0.960000	0.62799	1.548000	0.36201	-0.188000	0.10499	0.533000	0.62120	TCC		0.433	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		8	25	0	0	0	1	0	8	25					G	38409193	T	G	38409193	3	3	79	1	0	0	0	0	1	0	0	0	4982	1551	54	4	1388	4	EGFLAM	5	38409193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2039	38409193	142506067	6091	16408											
EGFLAM	133584	broad.mit.edu	37	chr5	38427240	38427240	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttcggccagactcaggagAtggtgtcctcctgtacagct	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	ENST00000354891.3	+	14	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	647	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTCAGGAGATGGTGTCCTC	0.542																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1939-1941)gAt>gTt		EGF-like, fibronectin type III and laminin G domains							153	148	150					5																	38427240		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427240A>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1940A>T	5.37:g.38427240A>T	ENSP00000346964:p.Asp647Val					EGFLAM_ENST00000354891.3_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V	p.D647V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2286	+	all_lung(31;0.000385)		647			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1940A>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327875	0.41197	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81330	-0.6;-0.6;-0.6;-1.48	5.76	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.157123	0.56097	D	0.000040	D	0.89329	0.6684	M	0.90369	3.11	0.80722	D	1	P;P;D	0.61697	0.95;0.833;0.99	P;P;D	0.64776	0.687;0.635;0.929	D	0.89382	0.3682	10	0.87932	D	0	-6.9413	8.3171	0.32106	0.786:0.1424:0.0716:0.0	.	413;647;647	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	647;647;413;13;413	ENSP00000346964:D647V;ENSP00000313084:D647V;ENSP00000337607:D413V;ENSP00000380385:D13V	ENSP00000313084:D647V	D	+	2	0	EGFLAM	38462997	1.000000	0.71417	0.008000	0.14137	0.045000	0.14185	5.738000	0.68613	1.021000	0.39600	0.533000	0.62120	GAT		0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		27	721	0	0	0	1	0	27	721					T	38427240	A	T	38427240	3	4	79	1	0	0	0	0	1	0	0	0	4982	333	12	5	2008	5	EGFLAM	5	38427240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18047	38427240	142488020	6092	16409											
LIFR	3977	broad.mit.edu	37	chr5	38482250	38482250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattttaggaaatgctgatCgagtttccagaacctcaaca	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38482250C>T	ENST00000263409.4	-	20	2903	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	914					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATGCTGATCGAGTTTCCAG	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2740-2742)cGa>cAa		leukemia inhibitory factor receptor alpha							75	77	76					5																	38482250		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482250C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2741G>A	5.37:g.38482250C>T	ENSP00000263409:p.Arg914Gln					LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	2903	-	all_lung(31;0.00021)		914					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2741G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908359	0.17833	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54866	0.55;0.55	6.06	3.18	0.36537	.	0.508601	0.18595	N	0.136622	T	0.22589	0.0545	N	0.13043	0.29	0.09310	N	1	B	0.31599	0.33	B	0.16722	0.016	T	0.06232	-1.0838	10	0.12103	T	0.63	-4.1353	0.7763	0.01033	0.1789:0.3905:0.174:0.2566	.	914	P42702	LIFR_HUMAN	Q	914	ENSP00000263409:R914Q;ENSP00000398368:R914Q	ENSP00000263409:R914Q	R	-	2	0	LIFR	38518007	0.001000	0.12720	0.001000	0.08648	0.427000	0.31564	0.036000	0.13819	0.795000	0.33922	0.650000	0.86243	CGA		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		13	510	0	0	0	1	0	13	510					T	38482250	C	T	38482250	3	4	79	1	0	0	0	0	1	0	0	0	8812	884	31	1	556	1	LIFR	5	38482250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55010	38482250	142433010	6093	16410											
LIFR	3977	broad.mit.edu	37	chr5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagaactattaccattctCgtttccgatagcaaaggata	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2584-2586)cGa>cAa		leukemia inhibitory factor receptor alpha							70	66	67					5																	38484883		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38484883C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2585G>A	5.37:g.38484883C>T	ENSP00000263409:p.Arg862Gln					LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			18	2747	-	all_lung(31;0.00021)		862					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2585G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384345	0.82792	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.78	4.91	0.64330	.	0.110075	0.64402	D	0.000012	T	0.74390	0.3710	M	0.69823	2.125	0.42200	D	0.991767	D	0.89917	1.0	D	0.80764	0.994	T	0.75196	-0.3403	10	0.38643	T	0.18	-13.1154	16.2544	0.82505	0.1338:0.8662:0.0:0.0	.	862	P42702	LIFR_HUMAN	Q	862	ENSP00000263409:R862Q;ENSP00000398368:R862Q	ENSP00000263409:R862Q	R	-	2	0	LIFR	38520640	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	5.359000	0.66074	1.428000	0.47296	0.563000	0.77884	CGA		0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		18	105	0	0	0	1	0	18	105					T	38484883	C	T	38484883	3	4	79	1	0	0	0	0	1	0	0	0	8812	884	31	1	720	1	LIFR	5	38484883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2633	38484883	142430377	6094	16411											
LIFR	3977	broad.mit.edu	37	chr5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgcaagtcatgttggggtCgtaatgccaggtgaggagaa	16	6	1	2	rs143621762		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	650	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTGGGGTCGTAATGCCAG	0.438			T	PLAG1	salivary adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0				Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1948-1950)Gac>Aac		leukemia inhibitory factor receptor alpha							167	146	153					5																	38493825		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493825C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1948G>A	5.37:g.38493825C>T	ENSP00000263409:p.Asp650Asn					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2110	-	all_lung(31;0.00021)		650			Fibronectin type-III 5.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1948G>A	CCDS3927.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.98	1.799137	0.31777	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.52983	0.64;0.64	5.68	1.86	0.25419	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	0.469433	0.26203	N	0.025724	T	0.28466	0.0704	N	0.25426	0.745	0.09310	N	0.999994	B	0.17268	0.021	B	0.06405	0.002	T	0.11743	-1.0575	10	0.32370	T	0.25	-12.488	5.6181	0.17442	0.1376:0.5722:0.0:0.2902	.	650	P42702	LIFR_HUMAN	N	650	ENSP00000263409:D650N;ENSP00000398368:D650N	ENSP00000263409:D650N	D	-	1	0	LIFR	38529582	0.247000	0.23920	0.254000	0.24359	0.947000	0.59692	0.542000	0.23222	0.410000	0.25675	0.591000	0.81541	GAC		0.438	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		107	431	0	0	0	1	0	107	431					T	38493825	C	T	38493825	3	4	79	1	0	0	0	0	1	0	0	0	8812	884	31	1	1373	1	LIFR	5	38493825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8942	38493825	142421435	6095	16412											
LIFR	3977	broad.mit.edu	37	chr5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtatctctgctttgtgCtgaggatcagggatttcaga	12	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	591	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCTTTGTGCTGAGGATCAG	0.408			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1771-1773)caG>caT		leukemia inhibitory factor receptor alpha							224	192	203					5																	38496596		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38496596C>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1773G>T	5.37:g.38496596C>A	ENSP00000263409:p.Gln591His					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H	p.Q591H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			13	1935	-	all_lung(31;0.00021)		591			Fibronectin type-III 4.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1773G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006685	0.19199	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54279	0.58;0.58	5.73	-8.16	0.01061	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.758030	0.13202	N	0.405909	T	0.23926	0.0579	N	0.12569	0.235	0.21416	N	0.999698	B	0.12630	0.006	B	0.09377	0.004	T	0.14783	-1.0460	10	0.28530	T	0.3	-18.9492	8.1536	0.31156	0.0973:0.5493:0.0992:0.2542	.	591	P42702	LIFR_HUMAN	H	591	ENSP00000263409:Q591H;ENSP00000398368:Q591H	ENSP00000263409:Q591H	Q	-	3	2	LIFR	38532353	0.010000	0.17322	0.953000	0.39169	0.524000	0.34500	-1.826000	0.01705	-0.804000	0.04410	-1.008000	0.02478	CAG		0.408	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		101	377	1	0	3.78979e-47	1	4.66216e-47	101	377					A	38496596	C	A	38496596	3	1	79	1	0	0	0	0	1	0	0	0	8812	796	28	3	1552	3	LIFR	5	38496596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	38496596	142418664	6096	16413											
LIFR	3977	broad.mit.edu	37	chr5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttgaagcagtcctcattCttttattgtccaccatccag	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	19					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTCCTCATTCTTTTATTGTC	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(55-57)aGa>aAa		leukemia inhibitory factor receptor alpha							135	131	133					5																	38530694		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38530694C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.56G>A	5.37:g.38530694C>T	ENSP00000263409:p.Arg19Lys					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			2	218	-	all_lung(31;0.00021)		19					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.56G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283089	0.59867	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.55588	0.51;0.51;0.81	5.5	1.59	0.23543	.	0.827850	0.10502	N	0.667197	T	0.43366	0.1244	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45011	-0.9290	10	0.59425	D	0.04	-12.1776	1.854	0.03174	0.1684:0.4932:0.1629:0.1755	.	19	P42702	LIFR_HUMAN	K	19	ENSP00000263409:R19K;ENSP00000398368:R19K;ENSP00000426685:R19K	ENSP00000263409:R19K	R	-	2	0	LIFR	38566451	0.004000	0.15560	0.001000	0.08648	0.900000	0.52787	0.721000	0.25911	0.337000	0.23665	0.650000	0.86243	AGA		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		35	425	0	0	0	1	0	35	425					T	38530694	C	T	38530694	3	4	79	1	0	0	0	0	1	0	0	0	8812	913	32	2	3313	2	LIFR	5	38530694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34098	38530694	142384566	6097	16414											
OSMR	9180	broad.mit.edu	37	chr5	38923316	38923316	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatctacaaaaaggattgcTtgtttattagagaaaaaaac	6	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	610	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGGATTGCTTGTTTATTAG	0.343																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1828-1830)gcT>gcA		oncostatin M receptor							79	82	81					5																	38923316		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38923316T>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1830T>A	5.37:g.38923316T>A							p.A610A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			13	2232	+	all_lung(31;0.000365)		610			Fibronectin type-III 3.		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1830T>A	CCDS3928.1																																																																																				0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		64	265	0	0	0	1	0	64	265					A	38923316	T	A	38923316	2	1	79	1	0	0	0	0	0	0	0	1	11334	1596	56	5		5	OSMR	5	38923316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	392622	38923316	141991944	6098	16415											
OSMR	9180	broad.mit.edu	37	chr5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatacaaaattgacaaccCggaagaaaaggcattgattg	8	7	0	3	rs387906822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L (in PLCA1). {ECO:0000269|PubMed:19690585}.		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTGACAACCCGGAAGAAAAG	0.358																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2080-2082)cCg>cTg		oncostatin M receptor							113	106	109					5																	38925342		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925342C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2081C>T	5.37:g.38925342C>T	ENSP00000274276:p.Pro694Leu						p.P694L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			15	2483	+	all_lung(31;0.000365)		694			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2081C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101350	0.06967	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.532999	0.21392	N	0.075284	T	0.61160	0.2325	L	0.56769	1.78	0.27464	N	0.953066	D	0.89917	1.0	P	0.62298	0.9	T	0.55023	-0.8205	10	0.18276	T	0.48	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	694	Q99650	OSMR_HUMAN	L	694	ENSP00000274276:P694L	ENSP00000274276:P694L	P	+	2	0	OSMR	38961099	0.305000	0.24481	0.071000	0.20095	0.022000	0.10575	3.948000	0.56660	2.732000	0.93576	0.655000	0.94253	CCG		0.358	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		104	418	0	0	0	1	0	104	418					T	38925342	C	T	38925342	3	4	79	1	0	0	0	0	1	0	0	0	11334	652	23	1	2173	1	OSMR	5	38925342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2026	38925342	141989918	6099	16416											
OSMR	9180	broad.mit.edu	37	chr5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggagaaacaagtttgaaTtatgtgtcccagttggcttc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	916					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAAGTTTGAATTATGTGTCCC	0.443																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2746-2748)aaT>aaG		oncostatin M receptor							78	84	82					5																	38933354		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933354T>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2748T>G	5.37:g.38933354T>G	ENSP00000274276:p.Asn916Lys						p.N916K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			18	3150	+	all_lung(31;0.000365)		916					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2748T>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566823	0.13560	.	.	ENSG00000145623	ENST00000274276	T	0.45668	0.89	5.85	4.69	0.59074	.	1.853720	0.02208	N	0.062901	T	0.41259	0.1151	L	0.56769	1.78	0.29781	N	0.833977	P	0.42456	0.78	B	0.40636	0.335	T	0.42732	-0.9434	10	0.02654	T	1	.	8.6037	0.33760	0.0:0.0864:0.0:0.9136	.	916	Q99650	OSMR_HUMAN	K	916	ENSP00000274276:N916K	ENSP00000274276:N916K	N	+	3	2	OSMR	38969111	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.483000	0.22292	1.034000	0.39945	0.533000	0.62120	AAT		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		99	446	0	0	0	1	0	99	446					G	38933354	T	G	38933354	3	3	79	1	0	0	0	0	1	0	0	0	11334	1490	52	4	2852	4	OSMR	5	38933354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8012	38933354	141981906	6100	16417											
RICTOR	253260	broad.mit.edu	37	chr5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattcttgtatgaacctcCgacacggaagtctgaatgtg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGAACCTCCGACACGGAAG	0.343																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(5008-5010)cGg>cAg		RPTOR independent companion of MTOR, complex 2							86	88	87					5																	38942978		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38942978C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.5009G>A	5.37:g.38942978C>T	ENSP00000349959:p.Arg1670Gln					RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	p.R1670Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			37	5039	-	all_lung(31;0.000396)		1670						Missense_Mutation	SNP	ENST00000357387.3	37	c.5009G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952747	0.97139	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75477	-0.94;-0.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.86546	0.1831	10	0.87932	D	0	-9.7854	20.5141	0.99211	0.0:1.0:0.0:0.0	.	1670;1694	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1670;1694	ENSP00000349959:R1670Q;ENSP00000296782:R1694Q	ENSP00000296782:R1694Q	R	-	2	0	RICTOR	38978735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.850000	0.98022	0.655000	0.94253	CGG		0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		44	157	0	0	0	1	0	44	157					T	38942978	C	T	38942978	3	4	79	1	0	0	0	0	1	0	0	0	13408	652	23	1	125	1	RICTOR	5	38942978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	38942978	141972282	6101	16418											
RICTOR	253260	broad.mit.edu	37	chr5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcataacttaaggcttTcatgaacctataaaaccata	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGGCTTTCATGAACCTA	0.328																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4144-4146)Aaa>Caa		RPTOR independent companion of MTOR, complex 2							53	50	51					5																	38947536		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38947536T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4144A>C	5.37:g.38947536T>G	ENSP00000349959:p.Lys1382Gln					RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	p.K1382Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			32	4174	-	all_lung(31;0.000396)		1382						Missense_Mutation	SNP	ENST00000357387.3	37	c.4144A>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355906	0.61293	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55052	0.82;0.54	5.68	4.49	0.54785	.	0.141787	0.64402	D	0.000006	T	0.53674	0.1811	L	0.56769	1.78	0.51012	D	0.9999	P;P	0.47762	0.835;0.9	P;P	0.44990	0.466;0.466	T	0.57917	-0.7728	10	0.87932	D	0	-13.4672	12.8199	0.57688	0.0:0.0:0.1365:0.8635	.	1382;1406	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1382;1406	ENSP00000349959:K1382Q;ENSP00000296782:K1406Q	ENSP00000296782:K1406Q	K	-	1	0	RICTOR	38983293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.814000	0.69208	0.940000	0.37473	0.528000	0.53228	AAA		0.328	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		26	201	0	0	0	1	0	26	201					G	38947536	T	G	38947536	3	3	79	1	0	0	0	0	1	0	0	0	13408	1792	62	4	1010	4	RICTOR	5	38947536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	38947536	141967724	6102	16419											
RICTOR	253260	broad.mit.edu	37	chr5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgtaactaaagttacaatCtgctagacttttaattgtag	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGTTACAATCTGCTAGACTT	0.418																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3946-3948)Gat>Aat		RPTOR independent companion of MTOR, complex 2							120	115	116					5																	38950004		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950004C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3946G>A	5.37:g.38950004C>T	ENSP00000349959:p.Asp1316Asn					RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	p.D1316N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3976	-	all_lung(31;0.000396)		1316						Missense_Mutation	SNP	ENST00000357387.3	37	c.3946G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616596	0.87359	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54866	0.65;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.71527	-0.4566	10	0.87932	D	0	-20.5176	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1316;1316	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1316	ENSP00000349959:D1316N;ENSP00000296782:D1316N	ENSP00000296782:D1316N	D	-	1	0	RICTOR	38985761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GAT		0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		58	324	0	0	0	1	0	58	324					T	38950004	C	T	38950004	3	4	79	1	0	0	0	0	1	0	0	0	13408	913	32	2	1212	2	RICTOR	5	38950004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2468	38950004	141965256	6103	16420											
RICTOR	253260	broad.mit.edu	37	chr5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacttgttgtagtgtctGtattgaaactttggctacgt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTAGTGTCTGTATTGAAACT	0.418																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3664-3666)aCa>aTa		RPTOR independent companion of MTOR, complex 2							238	224	229					5																	38950285		2203	4298	6501	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950285G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3665C>T	5.37:g.38950285G>A	ENSP00000349959:p.Thr1222Ile					RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	p.T1222I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3695	-	all_lung(31;0.000396)		1222						Missense_Mutation	SNP	ENST00000357387.3	37	c.3665C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034996	0.75617	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	0.41;-0.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82659	-0.0348	10	0.87932	D	0	-17.4192	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1222;1222	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1222	ENSP00000349959:T1222I;ENSP00000296782:T1222I	ENSP00000296782:T1222I	T	-	2	0	RICTOR	38986042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.937000	0.99478	0.650000	0.86243	ACA		0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		236	955	0	0	0	1	0	236	955					A	38950285	G	A	38950285	3	1	79	1	0	0	0	0	1	0	0	0	13408	1377	48	2	1493	2	RICTOR	5	38950285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281	38950285	141964975	6104	16421											
RICTOR	253260	broad.mit.edu	37	chr5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagttttagtatatctgGaatcacgttttcttcctgta	7	7	3	0	rs557179494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATATCTGGAATCACGTTT	0.353																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2848-2850)Cca>Tca		RPTOR independent companion of MTOR, complex 2							177	177	177					5																	38953136		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38953136G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2848C>T	5.37:g.38953136G>A	ENSP00000349959:p.Pro950Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S	p.P950S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			29	2878	-	all_lung(31;0.000396)		950						Missense_Mutation	SNP	ENST00000357387.3	37	c.2848C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68025	-0.3;-0.3	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.741;1.0	P;D	0.87578	0.554;0.998	T	0.79773	-0.1662	10	0.87932	D	0	-14.0935	19.8174	0.96576	0.0:0.0:1.0:0.0	.	950;950	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	950	ENSP00000349959:P950S;ENSP00000296782:P950S	ENSP00000296782:P950S	P	-	1	0	RICTOR	38988893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.757000	0.94681	0.591000	0.81541	CCA		0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		47	369	0	0	0	1	0	47	369					A	38953136	G	A	38953136	3	1	79	1	0	0	0	0	1	0	0	0	13408	1174	41	2	2318	2	RICTOR	5	38953136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	38953136	141962124	6105	16422											
C9	735	broad.mit.edu	37	chr5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggctcactttcacaatcAtcctcatctgaaaagtctcc	6	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(394-396)gaT>gaG		complement component 9							125	122	123					5																	39341328		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341328A>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.396T>G	5.37:g.39341328A>C	ENSP00000263408:p.Asp132Glu					C9_ENST00000509186.1_5'UTR	p.D132E	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	491	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	132			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.396T>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382830	0.42207	.	.	ENSG00000113600	ENST00000263408	D	0.94966	-3.57	5.52	-2.54	0.06307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.403256	0.29172	N	0.012922	D	0.85026	0.5603	N	0.04162	-0.26	0.09310	N	1	D	0.53619	0.961	P	0.50970	0.655	T	0.82456	-0.0448	10	0.15952	T	0.53	-22.6294	5.9416	0.19196	0.4123:0.2496:0.3381:0.0	.	132	P02748	CO9_HUMAN	E	132	ENSP00000263408:D132E	ENSP00000263408:D132E	D	-	3	2	C9	39377085	0.028000	0.19301	0.111000	0.21465	0.828000	0.46876	0.049000	0.14099	-0.180000	0.10637	0.460000	0.39030	GAT		0.478	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			45	509	0	0	0	1	0	45	509					C	39341328	A	C	39341328	3	2	79	1	0	0	0	0	1	0	0	0	2450	214	8	4	1315	4	C9	5	39341328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388192	39341328	141573932	6106	16423											
DAB2	1601	broad.mit.edu	37	chr5	39381710	39381710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgcaagcaagtcattGgctgaagactgacaggacag	12	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000545653.1_Silent_p.A429A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	450					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGTCATTGGCTGAAGACT	0.522																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1348-1350)gcC>gcT		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							103	99	100					5																	39381710		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39381710G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1350C>T	5.37:g.39381710G>A						DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000509337.1_Silent_p.A429A	p.A450A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	1817	-	all_lung(31;0.000197)		450					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1350C>T	CCDS34149.1																																																																																				0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		66	264	0	0	0	1	0	66	264					A	39381710	G	A	39381710	2	1	79	1	0	0	0	0	0	0	0	1	4229	1335	47	2		2	DAB2	5	39381710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40382	39381710	141533550	6107	16424											
DAB2	1601	broad.mit.edu	37	chr5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcgaacttgaaaagggCcatgggcctgcctgagcttc	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	364	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAAAAGGGCCATGGGCCTG	0.502																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1090-1092)tgG>tgA		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							77	81	80					5																	39382969		2203	4300	6503	SO:0001587	stop_gained	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39382969C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1092G>A	5.37:g.39382969C>T	ENSP00000313391:p.Trp364*					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*	p.W364*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1559	-	all_lung(31;0.000197)		364					A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	c.1092G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162273	0.97338	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	5.73	0.89815	.	0.075986	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4116	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	364;343;343	.	ENSP00000313391:W364X	W	-	3	0	DAB2	39418726	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	TGG		0.502	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		50	260	0	0	0	1	0	50	260					T	39382969	C	T	39382969	4	4	79	1	0	0	0	0	0	1	0	0	4229	740	26	2	1240	2	DAB2	5	39382969	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	39382969	141532291	6108	16425											
DAB2	1601	broad.mit.edu	37	chr5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggagtagacgagctactcGaattctctttcttctgatct	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468																																						ENST00000320816.6																			1	Substitution - Nonsense(1)	p.S324*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(970-972)tCg>tTg		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							102	106	105					5																	39383090		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383090G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.971C>T	5.37:g.39383090G>A	ENSP00000313391:p.Ser324Leu					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L	p.S324L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1438	-	all_lung(31;0.000197)		324					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.971C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG		0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		23	521	0	0	0	1	0	23	521					A	39383090	G	A	39383090	3	1	79	1	0	0	0	0	1	0	0	0	4229	1059	37	1	1361	1	DAB2	5	39383090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	39383090	141532170	6109	16426											
PTGER4	5734	broad.mit.edu	37	chr5	40681899	40681899	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcatcgcgggcgccgagatCcagatggtcatcttactcat	11	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	268					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCGCCGAGATCCAGATGGTCA	0.687																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(802-804)atC>atA		prostaglandin E receptor 4 (subtype EP4)							26	29	28					5																	40681899		2122	4045	6167	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681899C>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.804C>A	5.37:g.40681899C>A							p.I268I	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1828	+			268					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.804C>A	CCDS3930.1																																																																																				0.687	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		56	239	1	0	4.1673e-28	1	4.84001e-28	56	239					A	40681899	C	A	40681899	2	1	79	1	0	0	0	0	0	0	0	1	12793	845	30	3		3	PTGER4	5	40681899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1298809	40681899	140233361	6110	16427											
TTC33	23548	broad.mit.edu	37	chr5	40716255	40716255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcatactgcttcatcgggCtttgataaaaacagagccat	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40716255C>A	ENST00000337702.4	-	5	933	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	261										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTTCATCGGGCTTTGATAAAA	0.393																																						ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(781-783)Gcc>Tcc		tetratricopeptide repeat domain 33							68	57	61					5																	40716255		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716255C>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.781G>T	5.37:g.40716255C>A	ENSP00000338533:p.Ala261Ser					TTC33_ENST00000503936.2_5'UTR	p.A261S	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN			5	933	-			261					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.781G>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808046	0.90707	.	.	ENSG00000113638	ENST00000337702	T	0.41065	1.01	5.34	5.34	0.76211	.	0.095158	0.64402	D	0.000001	T	0.62998	0.2474	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.65865	-0.6064	10	0.87932	D	0	-12.367	19.0383	0.92987	0.0:1.0:0.0:0.0	.	261	Q6PID6	TTC33_HUMAN	S	261	ENSP00000338533:A261S	ENSP00000338533:A261S	A	-	1	0	TTC33	40752012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.486000	0.83907	0.650000	0.86243	GCC		0.393	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		5	156	1	0	1.024e-07	1	1.06599e-07	5	156					A	40716255	C	A	40716255	3	1	79	1	0	0	0	0	1	0	0	0	16756	797	28	3	11	3	TTC33	5	40716255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34356	40716255	140199005	6111	16428											
PRKAA1	5562	broad.mit.edu	37	chr5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaaattacttctggtGcagcatagttgggtgagcca	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000397128.2	-	5	583	c.575C>T	c.(574-576)gCa>gTa	p.A192V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V|PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368																																						ENST00000397128.2																			0				breast(1)	1						c.(574-576)gCa>gTa		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						161	154	157					5																	40769539		1855	4116	5971	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40769539G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.575C>T	5.37:g.40769539G>A	ENSP00000380317:p.Ala192Val					PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	p.A192V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			5	583	-			192			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.575C>T	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785121	0.90282	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	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	0.82646	0.5082	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.64144	0.922;0.919	D	0.89003	0.3423	10	0.87932	D	0	-19.9302	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;207	Q13131;Q13131-2	AAPK1_HUMAN;.	V	192;207;183	ENSP00000380317:A192V;ENSP00000346148:A207V;ENSP00000296800:A183V	ENSP00000296800:A183V	A	-	2	0	AC008810.1	40805296	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA		0.368	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		18	464	0	0	0	1	0	18	464					A	40769539	G	A	40769539	3	1	79	1	0	0	0	0	1	0	0	0	12540	1319	46	2	1124	2	PRKAA1	5	40769539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53284	40769539	140145721	6112	16429											
C7	730	broad.mit.edu	37	chr5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctctgtatgactacaGtgcctaccgaagattaatcg	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	290	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428																																						ENST00000313164.9																			0											c.(868-870)aGt>aAt		complement component 7							91	87	88					5																	40947834		1850	4091	5941	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947834G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.869G>A	5.37:g.40947834G>A	ENSP00000322061:p.Ser290Asn						p.S290N	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			8	1228	+		Ovarian(839;0.0112)	290			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.869G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096169	0.56075	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83755	-1.76	5.9	5.04	0.67666	Membrane attack complex component/perforin (MACPF) domain (3);	0.264931	0.45126	D	0.000385	T	0.79167	0.4400	L	0.58101	1.795	0.39187	D	0.962896	B	0.20550	0.046	B	0.22601	0.04	T	0.75803	-0.3189	10	0.37606	T	0.19	-12.6631	10.4816	0.44698	0.1479:0.0:0.8521:0.0	.	290	P10643	CO7_HUMAN	N	290	ENSP00000322061:S290N	ENSP00000322061:S290N	S	+	2	0	C7	40983591	0.006000	0.16342	1.000000	0.80357	0.886000	0.51366	0.308000	0.19314	1.502000	0.48669	-0.142000	0.14014	AGT		0.428	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			49	204	0	0	0	1	0	49	204					A	40947834	G	A	40947834	3	1	79	1	0	0	0	0	1	0	0	0	2382	1029	36	2	899	2	C7	5	40947834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178295	40947834	139967426	6113	16430											
C7	730	broad.mit.edu	37	chr5	40972682	40972682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagatgaagaatgcccGctgtgtacaaaaaggtgagt	12	7	0	4	rs113187203	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40972682G>A	ENST00000313164.9	+	15	2419	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	687	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in C7D). {ECO:0000269|PubMed:9856499}.		cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AAGAATGCCCGCTGTGTACAA	0.498													G|||	9	0.00179712	0.0053	0.0029	5008	,	,		18066	0.0		0.0	False		,,,				2504	0.0					ENST00000313164.9																			0						GRCh37	CM980286	C7	M	rs113187203	c.(2059-2061)cGc>cAc		complement component 7		G	HIS/ARG	11,4087		0,11,2038	158	153	155		2060	-4.2	0	5	dbSNP_132	155	0,8416		0,0,4208	yes	missense	C7	NM_000587.2	29	0,11,6246	AA,AG,GG		0.0,0.2684,0.0879	benign	687/844	40972682	11,12503	2049	4208	6257	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40972682G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2060G>A	5.37:g.40972682G>A	ENSP00000322061:p.Arg687His					C7_ENST00000494960.1_3'UTR	p.R687H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			15	2419	+		Ovarian(839;0.0112)	687		R -> H (in C7D).	Sushi 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2060G>A	CCDS47201.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	5.568	0.289660	0.10567	0.002684	0.0	ENSG00000112936	ENST00000313164	T	0.65549	-0.16	5.93	-4.15	0.03881	Complement control module (1);Sushi/SCR/CCP (2);	1.012530	0.07905	N	0.973392	T	0.37705	0.1013	N	0.05078	-0.115	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.22706	T	0.39	-0.4173	13.1334	0.59395	0.5021:0.0:0.4979:0.0	.	687	P10643	CO7_HUMAN	H	687	ENSP00000322061:R687H	ENSP00000322061:R687H	R	+	2	0	C7	41008439	0.000000	0.05858	0.006000	0.13384	0.522000	0.34438	0.096000	0.15147	-1.073000	0.03137	-0.229000	0.12294	CGC		0.498	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			63	582	0	0	0	1	0	63	582					A	40972682	G	A	40972682	3	1	79	1	0	0	0	0	1	0	0	0	2382	1087	38	1	2118	1	C7	5	40972682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24848	40972682	139942578	6114	16431											
HEATR7B2	133558	broad.mit.edu	37	chr5	41057440	41057440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgtcataaagaactgctGcagtcagtatttgttttagg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41057440G>T	ENST00000399564.4	-	8	1229	c.779C>A	c.(778-780)gCa>gAa	p.A260E	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	260																	AAGAACTGCTGCAGTCAGTAT	0.443																																						ENST00000399564.4																			0											c.(778-780)gCa>gAa		maestro heat-like repeat family member 2B							50	47	48					5																	41057440		1864	4117	5981	SO:0001583	missense	133558							g.chr5:41057440G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.779C>A	5.37:g.41057440G>T	ENSP00000382476:p.Ala260Glu					MROH2B_ENST00000506092.2_Intron	p.A260E	NM_173489.4	NP_775760.3					8	1229	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.779C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725070	0.68959	.	.	ENSG00000171495	ENST00000399564	T	0.65916	-0.18	5.21	5.21	0.72293	Armadillo-type fold (1);	0.000000	0.56097	D	0.000021	T	0.76786	0.4036	M	0.66939	2.045	0.26523	N	0.974396	D	0.89917	1.0	D	0.87578	0.998	T	0.69978	-0.4998	10	0.72032	D	0.01	.	14.4504	0.67382	0.0:0.0:1.0:0.0	.	260	Q7Z745	HTRB2_HUMAN	E	260	ENSP00000382476:A260E	ENSP00000382476:A260E	A	-	2	0	HEATR7B2	41093197	0.688000	0.27680	0.221000	0.23827	0.054000	0.15201	2.658000	0.46733	2.873000	0.98535	0.561000	0.74099	GCA		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	30	1	0	0.00116845	1	0.00118049	6	30					T	41057440	G	T	41057440	3	4	79	1	0	0	0	0	1	0	0	0	7065	1319	46	3	4118	3	HEATR7B2	5	41057440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84758	41057440	139857820	6115	16432											
C6	729	broad.mit.edu	37	chr5	41149377	41149377	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatagcaggtgtcataGccacaggattctttctttgt	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	863	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTGTCATAGCCACAGGATT	0.428																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2587-2589)ggC>ggA		complement component 6							241	231	235					5																	41149377		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149377G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2589C>A	5.37:g.41149377G>T						C6_ENST00000337836.5_Silent_p.G863G	p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2853	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	863			C5b-binding domain.|Complement control factor I module 2.			Silent	SNP	ENST00000263413.3	37	c.2589C>A	CCDS3936.1																																																																																				0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			202	1053	1	0	1.31757e-72	1	1.67621e-72	202	1053					T	41149377	G	T	41149377	2	4	79	1	0	0	0	0	0	0	0	1	2322	958	34	3		3	C6	5	41149377	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91937	41149377	139765883	6116	16433											
C6	729	broad.mit.edu	37	chr5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccattctaactggcggCcgtcttggcaggaaccaata	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Factor I module (FIM) 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2518-2520)gGc>gAc		complement component 6							140	137	138					5																	41149447		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149447C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2519G>A	5.37:g.41149447C>T	ENSP00000263413:p.Gly840Asp					C6_ENST00000337836.5_Missense_Mutation_p.G840D	p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2783	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	840			C5b-binding domain.|Complement control factor I module 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2519G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336634	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60299	0.2;0.2	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.32041	0.0816	N	0.14661	0.345	0.24034	N	0.996103	B	0.16396	0.017	B	0.12837	0.008	T	0.31943	-0.9925	10	0.07030	T	0.85	-20.1278	5.7292	0.18030	0.0:0.6574:0.1663:0.1763	.	840	P13671	CO6_HUMAN	D	840	ENSP00000338861:G840D;ENSP00000263413:G840D	ENSP00000263413:G840D	G	-	2	0	C6	41185204	0.006000	0.16342	0.839000	0.33178	0.196000	0.23810	1.784000	0.38674	2.768000	0.95171	0.655000	0.94253	GGC		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			154	791	0	0	0	1	0	154	791					T	41149447	C	T	41149447	3	4	79	1	0	0	0	0	1	0	0	0	2322	739	26	2	293	2	C6	5	41149447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	41149447	139765813	6117	16434											
C6	729	broad.mit.edu	37	chr5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atacttactggatttataatCtggagactgtttctcacagt	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000337836.5_Missense_Mutation_p.D558Y|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	558					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATTTATAATCTGGAGACTGT	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1672-1674)Gat>Tat		complement component 6							91	91	91					5																	41160256		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160256C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1672G>T	5.37:g.41160256C>A	ENSP00000263413:p.Asp558Tyr					C6_ENST00000337836.5_Missense_Mutation_p.D558Y	p.D558Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1936	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	558						Missense_Mutation	SNP	ENST00000263413.3	37	c.1672G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751077	0.69533	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62639	0.01;0.01	6.06	6.06	0.98353	.	1.329030	0.04512	N	0.382988	D	0.83566	0.5282	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71902	-0.4452	10	0.72032	D	0.01	-18.6999	20.6208	0.99490	0.0:1.0:0.0:0.0	.	558	P13671	CO6_HUMAN	Y	558	ENSP00000338861:D558Y;ENSP00000263413:D558Y	ENSP00000263413:D558Y	D	-	1	0	C6	41196013	1.000000	0.71417	0.489000	0.27452	0.316000	0.28119	7.459000	0.80802	2.882000	0.98803	0.655000	0.94253	GAT		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			83	306	1	0	5.02053e-37	1	6.02234e-37	83	306					A	41160256	C	A	41160256	3	1	79	1	0	0	0	0	1	0	0	0	2322	913	32	3	1164	3	C6	5	41160256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10809	41160256	139755004	6118	16435											
C6	729	broad.mit.edu	37	chr5	41176658	41176658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggtgaagtaatgagTcccaaagtcatcgaatattc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41176658T>C	ENST00000263413.3	-	8	1351	c.1087A>G	c.(1087-1089)Act>Gct	p.T363A	C6_ENST00000337836.5_Missense_Mutation_p.T363A|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	363	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGTAATGAGTCCCAAAGTCA	0.433																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1087-1089)Act>Gct		complement component 6							125	118	121					5																	41176658		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176658T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1087A>G	5.37:g.41176658T>C	ENSP00000263413:p.Thr363Ala					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.T363A	p.T363A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			8	1351	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	363			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1087A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714979	0.89112	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99705	1.1005	10	0.87932	D	0	-19.9222	15.8689	0.79091	0.0:0.0:0.0:1.0	.	363	P13671	CO6_HUMAN	A	363	ENSP00000338861:T363A;ENSP00000263413:T363A	ENSP00000263413:T363A	T	-	1	0	C6	41212415	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.224000	0.78042	2.333000	0.79357	0.482000	0.46254	ACT		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			9	420	0	0	0	1	0	9	420					C	41176658	T	C	41176658	3	2	79	1	0	0	0	0	1	0	0	0	2322	1667	58	4	1761	4	C6	5	41176658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16402	41176658	139738602	6119	16436											
C6	729	broad.mit.edu	37	chr5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatacctcaaagccgAcattttccagattggccgga	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000337836.5_Missense_Mutation_p.V239G|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	239	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCAAAGCCGACATTTTCCAG	0.423																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(715-717)gTc>gGc		complement component 6							128	117	121					5																	41186182		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186182A>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.716T>G	5.37:g.41186182A>C	ENSP00000263413:p.Val239Gly					C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.V239G	p.V239G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			6	980	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	239			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.716T>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873182	0.72180	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61392	0.11;0.11	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.218031	0.46758	D	0.000268	T	0.64951	0.2645	M	0.72479	2.2	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.69049	-0.5248	10	0.54805	T	0.06	-16.1571	16.4943	0.84223	1.0:0.0:0.0:0.0	.	239	P13671	CO6_HUMAN	G	239	ENSP00000338861:V239G;ENSP00000263413:V239G	ENSP00000263413:V239G	V	-	2	0	C6	41221939	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	7.357000	0.79456	2.291000	0.77112	0.533000	0.62120	GTC		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			37	170	0	0	0	1	0	37	170					C	41186182	A	C	41186182	3	2	79	1	0	0	0	0	1	0	0	0	2322	275	10	4	2140	4	C6	5	41186182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9524	41186182	139729078	6120	16437											
OXCT1	5019	broad.mit.edu	37	chr5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtcatctccaggtttaGcagatttggcttccccatct	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	295					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(883-885)gCt>gTt		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						144	142	143					5																	41805740		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805740G>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.884C>T	5.37:g.41805740G>A	ENSP00000196371:p.Ala295Val					OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	p.A295V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			9	1044	-			295					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.884C>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758665	0.15846	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79141	-1.24;-1.24	5.22	-5.59	0.02505	.	0.837146	0.11006	N	0.609933	T	0.51295	0.1666	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.27082	T	0.32	0.5894	4.0039	0.09592	0.094:0.1396:0.425:0.3415	.	295	P55809	SCOT1_HUMAN	V	295;109	ENSP00000196371:A295V;ENSP00000425348:A109V	ENSP00000196371:A295V	A	-	2	0	OXCT1	41841497	0.055000	0.20627	0.000000	0.03702	0.256000	0.26092	-0.005000	0.12855	-0.846000	0.04174	-0.219000	0.12488	GCT		0.423	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		82	342	0	0	0	1	0	82	342					A	41805740	G	A	41805740	3	1	79	1	0	0	0	0	1	0	0	0	11371	971	34	2	714	2	OXCT1	5	41805740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	619558	41805740	139109520	6121	16438											
C5orf51	285636	broad.mit.edu	37	chr5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacagatgctaaattatcGatgtcctatccagttaaatg	7	8	0	1	rs370411797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(532-534)cGa>cAa		chromosome 5 open reading frame 51		G	GLN/ARG	0,4406		0,0,2203	172	173	173		533	5.8	1	5		173	1,8595	1.2+/-3.3	0,1,4297	no	missense	C5orf51	NM_175921.4	43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/295	41912217	1,13001	2203	4298	6501	SO:0001583	missense	285636							g.chr5:41912217G>A	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.533G>A	5.37:g.41912217G>A	ENSP00000371061:p.Arg178Gln						p.R178Q	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			5	552	+			178					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.533G>A	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522614	0.96431	0.0	1.16E-4	ENSG00000205765	ENST00000381647	D	0.82526	-1.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.34521	1.04	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.88372	0.2995	10	0.87932	D	0	-18.7221	18.3385	0.90297	0.0:0.0:1.0:0.0	.	178	A6NDU8	CE051_HUMAN	Q	178	ENSP00000371061:R178Q	ENSP00000371061:R178Q	R	+	2	0	C5orf51	41947974	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.713000	0.84693	2.767000	0.95098	0.555000	0.69702	CGA		0.328	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		104	498	0	0	0	1	0	104	498					A	41912217	G	A	41912217	3	1	79	1	0	0	0	0	1	0	0	0	2315	1058	37	1	551	1	C5orf51	5	41912217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106477	41912217	139003043	6122	16439											
FBXO4	26272	broad.mit.edu	37	chr5	41939678	41939678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgccctgtttttatttggCtcatgagctgcatctgaatc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41939678C>T	ENST00000281623.3	+	6	1090	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	345					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTTATTTGGCTCATGAGCTG	0.368																																						ENST00000281623.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(1033-1035)gCt>gTt		F-box protein 4							138	145	143					5																	41939678		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41939678C>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.1034C>T	5.37:g.41939678C>T	ENSP00000281623:p.Ala345Val					FBXO4_ENST00000509134.1_Intron	p.A345V	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN			6	1090	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	345					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.1034C>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738338	0.89573	.	.	ENSG00000151876	ENST00000281623	T	0.57907	0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.69420	-0.5150	10	0.66056	D	0.02	-10.8369	19.4929	0.95059	0.0:1.0:0.0:0.0	.	345	Q9UKT5	FBX4_HUMAN	V	345	ENSP00000281623:A345V	ENSP00000281623:A345V	A	+	2	0	FBXO4	41975435	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.949000	0.70257	2.689000	0.91719	0.556000	0.70494	GCT		0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			9	409	0	0	0	1	0	9	409					T	41939678	C	T	41939678	3	4	79	1	0	0	0	0	1	0	0	0	5773	797	28	2	1082	2	FBXO4	5	41939678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27461	41939678	138975582	6123	16440											
GHR	2690	broad.mit.edu	37	chr5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagtggatgaaaagtgtttCtctgttgatgaaataggtaa	11	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	141					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(421-423)ttC>ttA		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94	90	91					5																	42695175		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695175C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.423C>A	5.37:g.42695175C>A	ENSP00000230882:p.Phe141Leu					GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.F119L	p.F141L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			5	613	+		Myeloproliferative disorder(839;0.00878)	141					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.423C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087062	0.76642	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.95918	-3.85;-3.85	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97849	1.0273	10	0.62326	D	0.03	-12.8885	15.3502	0.74376	0.0:0.8601:0.1399:0.0	.	141	P10912	GHR_HUMAN	L	141;119;141	ENSP00000230882:F141L;ENSP00000350335:F119L	ENSP00000230882:F141L	F	+	3	2	GHR	42730932	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.603000	0.54074	2.537000	0.85549	0.585000	0.79938	TTC		0.358	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		33	145	1	0	2.09667e-21	1	2.36065e-21	33	145					A	42695175	C	A	42695175	3	1	79	1	0	0	0	0	1	0	0	0	6400	912	32	3	437	3	GHR	5	42695175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	755497	42695175	138220085	6124	16441											
GHR	2690	broad.mit.edu	37	chr5	42699999	42699999	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggattcatgcagatatCcaagtgagatgggaagcacc	12	8	1	2	rs561281010|rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions). {ECO:0000269|PubMed:9851797}.		2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(511-513)atC>atT		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137	118	124					5																	42699999		2203	4300	6503	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42699999C>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.513C>T	5.37:g.42699999C>T						GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.I149I	p.I171I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			6	703	+		Myeloproliferative disorder(839;0.00878)	171		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions).	Fibronectin type-III.		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.513C>T	CCDS3940.1																																																																																				0.418	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		52	259	0	0	0	1	0	52	259					T	42699999	C	T	42699999	2	4	79	1	0	0	0	0	0	0	0	1	6400	845	30	2		2	GHR	5	42699999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4824	42699999	138215261	6125	16442											
SEPP1	100129792	broad.mit.edu	37	chr5	42800927	42800927	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcaggcagctggaggCaaacgtcactgacaagattc	11	9	2	2	rs17857312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42800927C>T	ENST00000361970.5	+	0	1896				SEPP1_ENST00000509276.1_5'Flank|SEPP1_ENST00000514985.1_Silent_p.L347L|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L347L|SEPP1_ENST00000506577.1_Silent_p.L347L	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CAGCTGGAGGCAAACGTCACT	0.463																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(1039-1041)ttG>ttA		selenoprotein P, plasma, 1							84	81	82					5																	42800927		1961	4155	6116	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42800927C>T		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1044C>T	5.37:g.42800927C>T						SEPP1_ENST00000506577.1_Silent_p.L347L|SEPP1_ENST00000511224.1_Silent_p.L347L|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_3'UTR	p.L347L	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1297	-			347	L -> F (in Ref. 5; AAH46152).				B3KXI4|B4E0P7|Q5BLP6	Silent	SNP	ENST00000361970.5	37	c.1041G>A	CCDS47203.1																																																																																				0.463	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		44	376	0	0	0	1	0	44	376					T	42800927	C	T	42800927	1	4	79	0	1	0	0	0	0	0	0	0	14107	709	25	2		2	SEPP1	5	42800927	3'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100928	42800927	138114333	6126	16443											
SEPP1	6414	broad.mit.edu	37	chr5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagagagccagggcaagcCccaggcttctccacattgct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	6					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(16-18)gGg>gAg		selenoprotein P, plasma, 1							19	20	20					5																	42808439		1806	4062	5868	SO:0001583	missense	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42808439C>T	BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.17G>A	5.37:g.42808439C>T	ENSP00000420939:p.Gly6Glu					SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000509276.1_5'UTR	p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			2	273	-			6					Q6PD59|Q6PI43|Q6PI87|Q6PJF9	Missense_Mutation	SNP	ENST00000514985.1	37	c.17G>A	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803324	0.70682	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.51574	2.15;2.15;2.15;1.59;0.7	5.29	4.43	0.53597	.	0.149429	0.30428	U	0.009652	T	0.51584	0.1683	L	0.57536	1.79	0.29780	N	0.834089	.	.	.	.	.	.	T	0.55964	-0.8057	8	0.59425	D	0.04	.	9.392	0.38378	0.0:0.7799:0.1435:0.0766	.	.	.	.	E	6	ENSP00000420939:G6E;ENSP00000427671:G6E;ENSP00000425915:G6E;ENSP00000421626:G6E;ENSP00000427414:G6E	ENSP00000425915:G6E	G	-	2	0	SEPP1	42844196	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	2.911000	0.48774	1.221000	0.43506	0.650000	0.86243	GGG		0.478	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410		24	102	0	0	0	1	0	24	102					T	42808439	C	T	42808439	3	4	79	1	0	0	0	0	1	0	0	0	14107	623	22	2	1144	2	SEPP1	5	42808439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7512	42808439	138106821	6127	16444											
ZNF131	7690	broad.mit.edu	37	chr5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaatgttatcactgagtCattgccatctgcagaatcag	7	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000399534.1	+	5	514	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131	157					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(469-471)tCa>tTa		zinc finger protein 131							114	103	106					5																	43161449		1879	4122	6001	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161449C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.470C>T	5.37:g.43161449C>T	ENSP00000382450:p.Ser157Leu					ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.S157L	p.S157L			P52739	ZN131_HUMAN			4	926	+			157					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.470C>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	ZNF131	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA		0.408	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		92	370	0	0	0	1	0	92	370					T	43161449	C	T	43161449	3	4	79	1	0	0	0	0	1	0	0	0	17774	838	29	2	484	2	ZNF131	5	43161449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353010	43161449	137753811	6128	16445											
ZNF131	7690	broad.mit.edu	37	chr5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccattgaagtggaagAtgaaggcatcgaaacattag	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000399534.1	+	5	586	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509634.1_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G			P52739	ZN131_HUMAN	zinc finger protein 131	181					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(541-543)gAt>gGt		zinc finger protein 131							101	92	95					5																	43161521		1946	4136	6082	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161521A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.542A>G	5.37:g.43161521A>G	ENSP00000382450:p.Asp181Gly					ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.D181G	p.D181G			P52739	ZN131_HUMAN			4	998	+			181					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.542A>G		.	.	.	.	.	.	.	.	.	.	A	13.39	2.222358	0.39300	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.42	4.27	0.50696	.	0.154858	0.56097	N	0.000029	T	0.53610	0.1807	N	0.14661	0.345	0.44871	D	0.997882	P;B	0.43094	0.799;0.004	B;B	0.35413	0.202;0.006	T	0.54022	-0.8355	10	0.39692	T	0.17	-16.9118	10.9487	0.47317	0.9268:0.0:0.0732:0.0	.	181;181	P52739;P52739-2	ZN131_HUMAN;.	G	181	ENSP00000422079:D181G;ENSP00000426504:D181G;ENSP00000305804:D181G;ENSP00000382450:D181G;ENSP00000423945:D181G;ENSP00000421246:D181G	ENSP00000305804:D181G	D	+	2	0	ZNF131	43197278	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.655000	0.67981	0.908000	0.36671	0.528000	0.53228	GAT		0.448	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		73	310	0	0	0	1	0	73	310					G	43161521	A	G	43161521	3	3	79	1	0	0	0	0	1	0	0	0	17774	333	12	4	556	4	ZNF131	5	43161521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72	43161521	137753739	6129	16446											
MGC42105	167359	broad.mit.edu	37	chr5	43280362	43280362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtggccaaactaaaaaAgagcatcctcgagggcacat	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43280362A>C	ENST00000512796.1	+	4	2341	c.842A>C	c.(841-843)aAg>aCg	p.K281T	NIM1_ENST00000326035.2_Missense_Mutation_p.K281T			Q8IY84	NIM1_HUMAN		281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AAACTAAAAAAGAGCATCCTC	0.557																																						ENST00000512796.1																			0											c.(841-843)aAg>aCg									87	72	77					5																	43280362		2203	4300	6503	SO:0001583	missense	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280362A>C																												ENST00000512796.1:c.842A>C	5.37:g.43280362A>C	ENSP00000420849:p.Lys281Thr					NIM1_ENST00000326035.2_Missense_Mutation_p.K281T	p.K281T			Q8IY84	NIM1_HUMAN			4	2341	+			281			Protein kinase.		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.842A>C	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245485	0.22796	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.65916	-0.18;-0.18	5.73	3.33	0.38152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188863	0.45867	D	0.000326	T	0.53883	0.1824	L	0.48362	1.52	0.45066	D	0.998086	B	0.09022	0.002	B	0.19666	0.026	T	0.49485	-0.8935	10	0.56958	D	0.05	.	10.0308	0.42099	0.8633:0.0:0.1367:0.0	.	281	Q8IY84	NIM1_HUMAN	T	281	ENSP00000313572:K281T;ENSP00000420849:K281T	ENSP00000313572:K281T	K	+	2	0	AC114947.1	43316119	1.000000	0.71417	0.977000	0.42913	0.393000	0.30537	4.224000	0.58593	0.446000	0.26666	0.533000	0.62120	AAG		0.557	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			73	267	0	0	0	1	0	73	267					C	43280362	A	C	43280362	3	2	79	1	0	0	0	0	1	0	0	0	9593	72	3	4	852	4	MGC42105	5	43280362	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118841	43280362	137634898	6130	16447											
C5orf28	64417	broad.mit.edu	37	chr5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatatccacaaaccatgacGaatcccatctcggatatgat	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral component of membrane (GO:0016021)		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388																																						ENST00000500337.2																			2	Substitution - Missense(2)	p.R162C(2)	large_intestine(1)|lung(1)	breast(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(484-486)Cgt>Tgt		chromosome 5 open reading frame 28							120	113	115					5																	43446488		2203	4300	6503	SO:0001583	missense	64417					integral to membrane		g.chr5:43446488G>A	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.484C>T	5.37:g.43446488G>A	ENSP00000426067:p.Arg162Cys					C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C	p.R162C			Q0VDI3	CE028_HUMAN			5	815	-	Lung NSC(6;2.07e-05)		162					B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	c.484C>T	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT		0.388	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		63	378	0	0	0	1	0	63	378					A	43446488	G	A	43446488	3	1	79	1	0	0	0	0	1	0	0	0	2296	1058	37	1	167	1	C5orf28	5	43446488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166126	43446488	137468772	6131	16448											
PAIP1	10605	broad.mit.edu	37	chr5	43533874	43533874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggaacaccatcagaTgtataaaatgttggttcatt	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000514514.1_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000436644.2_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	406					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACCATCAGATGTATAAAATG	0.348																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1216-1218)acA>acG		poly(A) binding protein interacting protein 1							153	155	154					5																	43533874		2203	4300	6503	SO:0001819	synonymous_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43533874T>C	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1218A>G	5.37:g.43533874T>C						PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000514514.1_Silent_p.T327T	p.T406T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			9	1450	-	Lung NSC(6;2.07e-05)		406					A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	c.1218A>G	CCDS3947.1																																																																																				0.348	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		97	448	0	0	0	1	0	97	448					C	43533874	T	C	43533874	2	2	79	1	0	0	0	0	0	0	0	1	11438	1451	51	4		4	PAIP1	5	43533874	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87386	43533874	137381386	6132	16449											
NNT	23530	broad.mit.edu	37	chr5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtgtcctctacttaGcaatttggggtcctgtaagg	11	10	1	0	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000344920.4_Missense_Mutation_p.S18N|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	18					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCTCTACTTAGCAATTTGGGG	0.438																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(52-54)aGc>aAc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						133	137	135					5																	43609350		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43609350G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.53G>A	5.37:g.43609350G>A	ENSP00000264663:p.Ser18Asn					NNT_ENST00000344920.4_Missense_Mutation_p.S18N|NNT_ENST00000512996.2_Intron	p.S18N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			2	274	+	Lung NSC(6;2.58e-06)		18					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.53G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018041	0.35606	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95788	-1.82;-1.83;-3.81;-3.81	5.72	2.2	0.27929	.	0.357997	0.37261	N	0.002169	D	0.88507	0.6455	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79857	-0.1626	10	0.33940	T	0.23	-6.4642	5.563	0.17154	0.1469:0.106:0.6264:0.1207	rs12653648	18	Q13423	NNTM_HUMAN	N	18	ENSP00000427670:S18N;ENSP00000421886:S18N;ENSP00000264663:S18N;ENSP00000343873:S18N	ENSP00000264663:S18N	S	+	2	0	NNT	43645107	0.997000	0.39634	0.916000	0.36221	0.503000	0.33858	0.857000	0.27831	0.593000	0.29745	0.563000	0.77884	AGC		0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		36	248	0	0	0	1	0	36	248					A	43609350	G	A	43609350	3	1	79	1	0	0	0	0	1	0	0	0	10552	971	34	2	55	2	NNT	5	43609350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75476	43609350	137305910	6133	16450											
NNT	23530	broad.mit.edu	37	chr5	43651986	43651986	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggttataacattgaacaGgtaagatgctctttgtaagt	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000344920.4_Splice_Site_p.Q621H|NNT_ENST00000512996.2_Splice_Site_p.Q490H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	621					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACATTGAACAGGTAAGATGCT	0.383																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e13+1		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						129	133	131					5																	43651986		2203	4300	6503	SO:0001630	splice_region_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43651986G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1863+1G>T	5.37:g.43651986G>T						NNT_ENST00000344920.4_Splice_Site_p.Q621_splice|NNT_ENST00000512996.2_Splice_Site_p.Q490_splice	p.Q621_splice	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			13	2084	+	Lung NSC(6;2.58e-06)		621					Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	37	c.1863_splice	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716944	0.68844	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91843	-2.92;-2.92;-2.92	5.64	2.03	0.26663	.	0.049448	0.85682	D	0.000000	D	0.94272	0.8160	M	0.82630	2.6	0.80722	D	1	P	0.37441	0.595	P	0.53360	0.724	D	0.92446	0.5966	10	0.59425	D	0.04	-7.8661	7.8211	0.29288	0.4948:0.0:0.5052:0.0	.	621	Q13423	NNTM_HUMAN	H	136;621;621;490	ENSP00000264663:Q621H;ENSP00000343873:Q621H;ENSP00000426343:Q490H	ENSP00000264663:Q621H	Q	+	3	2	NNT	43687743	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.093000	0.50217	0.436000	0.26393	-0.302000	0.09304	CAG		0.383	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Missense_Mutation	124	613	1	0	4.37601e-64	1	5.5278e-64	124	613					T	43651986	G	T	43651986	5	4	79	1	0	0	0	0	0	0	1	0	10552	1014	35	3	1909	3	NNT	5	43651986	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42636	43651986	137263274	6134	16451											
NNT	23530	broad.mit.edu	37	chr5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattgttgttctagggtgtgActttgacagctgctattggg	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000344920.4_Missense_Mutation_p.T821S|NNT_ENST00000512996.2_Missense_Mutation_p.T690S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	821					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTAGGGTGTGACTTTGACAGC	0.423																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2461-2463)Act>Tct		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						148	147	147					5																	43659279		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659279A>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2461A>T	5.37:g.43659279A>T	ENSP00000264663:p.Thr821Ser					NNT_ENST00000344920.4_Missense_Mutation_p.T821S|NNT_ENST00000512996.2_Missense_Mutation_p.T690S	p.T821S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			17	2682	+	Lung NSC(6;2.58e-06)		821					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2461A>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469504	0.63625	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91407	-2.84;-2.84;-2.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.90019	3.08	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	D	0.92962	0.6390	10	0.10902	T	0.67	-26.4641	16.3742	0.83379	1.0:0.0:0.0:0.0	.	821	Q13423	NNTM_HUMAN	S	336;821;821;690	ENSP00000264663:T821S;ENSP00000343873:T821S;ENSP00000426343:T690S	ENSP00000264663:T821S	T	+	1	0	NNT	43695036	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	ACT		0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		136	616	0	0	0	1	0	136	616					T	43659279	A	T	43659279	3	4	79	1	0	0	0	0	1	0	0	0	10552	275	10	5	2523	5	NNT	5	43659279	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7293	43659279	137255981	6135	16452											
NNT	23530	broad.mit.edu	37	chr5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacactgttaattcagcaGctcaagaagatcccaactct	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000344920.4_Missense_Mutation_p.A1016S|NNT_ENST00000512996.2_Missense_Mutation_p.A885S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1016					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TAATTCAGCAGCTCAAGAAGA	0.343																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3046-3048)Gct>Tct		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						82	78	79					5																	43702773		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43702773G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3046G>T	5.37:g.43702773G>T	ENSP00000264663:p.Ala1016Ser					NNT_ENST00000344920.4_Missense_Mutation_p.A1016S|NNT_ENST00000512996.2_Missense_Mutation_p.A885S	p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			21	3267	+	Lung NSC(6;2.58e-06)		1016					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.3046G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922149	0.92319	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.95	5.95	0.96441	.	0.153952	0.56097	D	0.000025	D	0.97645	0.9228	M	0.90705	3.14	0.80722	D	1	B	0.32350	0.366	P	0.51229	0.663	D	0.96975	0.9711	10	0.72032	D	0.01	-17.2498	20.0036	0.97427	0.0:0.0:1.0:0.0	.	1016	Q13423	NNTM_HUMAN	S	531;1016;1016;885	ENSP00000264663:A1016S;ENSP00000343873:A1016S;ENSP00000426343:A885S	ENSP00000264663:A1016S	A	+	1	0	NNT	43738530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.824000	0.97209	0.655000	0.94253	GCT		0.343	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		35	203	1	0	2.19358e-23	1	2.49351e-23	35	203					T	43702773	G	T	43702773	3	4	79	1	0	0	0	0	1	0	0	0	10552	971	34	3	3124	3	NNT	5	43702773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43494	43702773	137212487	6136	16453											
MRPS30	10884	broad.mit.edu	37	chr5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttctttaagtttgtgCcattggattattctgttcct	6	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	252					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303																																						ENST00000507110.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(754-756)Cca>Tca		mitochondrial ribosomal protein S30							65	67	66					5																	44812023		2203	4298	6501	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44812023C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.754C>T	5.37:g.44812023C>T	ENSP00000424328:p.Pro252Ser						p.P252S	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			3	792	+	Lung NSC(6;8.08e-07)		252					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.754C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386818	0.42308	.	.	ENSG00000112996	ENST00000507110	T	0.16196	2.36	5.46	4.54	0.55810	.	0.273592	0.42294	D	0.000728	T	0.35740	0.0942	M	0.62016	1.91	0.48901	D	0.999723	D	0.89917	1.0	D	0.72075	0.976	T	0.01956	-1.1240	10	0.24483	T	0.36	-8.3727	14.0727	0.64870	0.0:0.8497:0.1503:0.0	.	252	Q9NP92	RT30_HUMAN	S	252	ENSP00000424328:P252S	ENSP00000424328:P252S	P	+	1	0	MRPS30	44847780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.550000	0.86006	0.655000	0.94253	CCA		0.303	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		45	178	0	0	0	1	0	45	178					T	44812023	C	T	44812023	3	4	79	1	0	0	0	0	1	0	0	0	9881	739	26	2	764	2	MRPS30	5	44812023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1109250	44812023	136103237	6137	16454											
HCN1	348980	broad.mit.edu	37	chr5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgagacaggctggtcGctgtgtacaccggtggagat	16	8	0	2	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCTGGTCGCTGTGTACAC	0.587																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2008-2010)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135	133	134		2009	5.4	0.2	5	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HCN1	NM_021072.3	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	670/891	45262687	3,13003	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262687G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2009C>T	5.37:g.45262687G>A	ENSP00000307342:p.Ala670Val						p.A670V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2066	-			670						Missense_Mutation	SNP	ENST00000303230.4	37	c.2009C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534289	0.27475	2.27E-4	2.33E-4	ENSG00000164588	ENST00000303230	D	0.97620	-4.46	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	D	0.93432	0.7905	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	D	0.85769	0.1354	10	0.46703	T	0.11	.	10.5844	0.45273	0.0731:0.1347:0.7923:0.0	.	670	O60741	HCN1_HUMAN	V	670	ENSP00000307342:A670V	ENSP00000307342:A670V	A	-	2	0	HCN1	45298444	0.019000	0.18553	0.244000	0.24202	0.967000	0.64934	1.899000	0.39818	2.528000	0.85240	0.563000	0.77884	GCG		0.587	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		65	279	0	0	0	1	0	65	279					A	45262687	G	A	45262687	3	1	79	1	0	0	0	0	1	0	0	0	7026	1087	38	1	667	1	HCN1	5	45262687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450664	45262687	135652573	6138	16455											
HCN1	348980	broad.mit.edu	37	chr5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtcgctgtgtacaccGgtggagattgtgtcctcatg	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1996-1998)cCg>cTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							153	149	150					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu						p.P666L	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2054	-			666						Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		67	304	0	0	0	1	0	67	304					A	45262699	G	A	45262699	3	1	79	1	0	0	0	0	1	0	0	0	7026	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	45262699	135652561	6139	16456											
HCN1	348980	broad.mit.edu	37	chr5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtagccaccagtttcCgacagttgaagttgactatc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1399-1401)cGg>cAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							101	105	104					5																	45303919		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303919C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1400G>A	5.37:g.45303919C>T	ENSP00000307342:p.Arg467Gln						p.R467Q	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1457	-			467						Missense_Mutation	SNP	ENST00000303230.4	37	c.1400G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398180	0.96030	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	D	0.52996	0.957	B	0.33846	0.171	D	0.95524	0.8597	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	467	O60741	HCN1_HUMAN	Q	467	ENSP00000307342:R467Q	ENSP00000307342:R467Q	R	-	2	0	HCN1	45339676	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	CGG		0.358	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		100	478	0	0	0	1	0	100	478					T	45303919	C	T	45303919	3	4	79	1	0	0	0	0	1	0	0	0	7026	652	23	1	1284	1	HCN1	5	45303919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41220	45303919	135611341	6140	16457											
PARP8	79668	broad.mit.edu	37	chr5	50090042	50090042	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attacctttggattgacagaAtcatgcagacatttgttaca	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000505554.1_Splice_Site_p.I226F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	247						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e11-1		poly (ADP-ribose) polymerase family, member 8							82	84	83					5																	50090042		2203	4300	6503	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090042A>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.738-1A>T	5.37:g.50090042A>T						PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Splice_Site_p.I247_splice|PARP8_ENST00000505554.1_Splice_Site_p.I226_splice|PARP8_ENST00000503750.2_Splice_Site_p.I247_splice|PARP8_ENST00000505697.2_Splice_Site_p.I247_splice|PARP8_ENST00000511363.2_3'UTR	p.I247_splice	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			11	897	+		Lung NSC(810;0.0305)|Breast(144;0.222)	247					Q3KRB7|Q6DHZ1|Q9H754	Splice_Site	SNP	ENST00000281631.5	37	c.737_splice	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986158	0.53934	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43923	1.385	0.80722	D	1	B;D;D	0.53885	0.064;0.962;0.963	B;P;P	0.49853	0.046;0.608;0.624	T	0.49447	-0.8939	8	.	.	.	-13.2808	10.9049	0.47073	0.9264:0.0:0.0736:0.0	.	139;247;247	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	247;247;247;247;226	.	.	I	+	1	0	PARP8	50125799	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.649000	0.74364	2.172000	0.68678	0.533000	0.62120	ATC		0.338	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Missense_Mutation	54	205	0	0	0	1	0	54	205					T	50090042	A	T	50090042	5	4	79	1	0	0	0	0	0	0	1	0	11507	115	4	5	781	5	PARP8	5	50090042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4786123	50090042	130825218	6141	16458											
PARP8	79668	broad.mit.edu	37	chr5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcatccaaaactgagCttttcaaggaacctaacgca	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	444						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1330-1332)Ctt>Ttt		poly (ADP-ribose) polymerase family, member 8							83	86	85					5																	50091153		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091153C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1330C>T	5.37:g.50091153C>T	ENSP00000281631:p.Leu444Phe					PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000511363.2_3'UTR	p.L444F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1488	+		Lung NSC(810;0.0305)|Breast(144;0.222)	444					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1330C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672488	0.47781	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	4.56	0.56223	.	0.323692	0.29205	N	0.012822	T	0.19485	0.0468	N	0.08118	0	0.30756	N	0.74455	B;P;B	0.43701	0.177;0.815;0.437	B;B;B	0.37047	0.068;0.24;0.068	T	0.04203	-1.0969	8	.	.	.	-5.7094	15.8371	0.78808	0.1369:0.8631:0.0:0.0	.	336;444;444	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	444;444;197;444;444;423;197;197	.	.	L	+	1	0	PARP8	50126910	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	1.379000	0.46325	0.650000	0.86243	CTT		0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		72	382	0	0	0	1	0	72	382					T	50091153	C	T	50091153	3	4	79	1	0	0	0	0	1	0	0	0	11507	797	28	2	1376	2	PARP8	5	50091153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1111	50091153	130824107	6142	16459											
ITGA1	3672	broad.mit.edu	37	chr5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctaaagttgttctacGctgctgcgtatcattcaatg	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTTCTACGCTGCTGCGTA	0.373																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(70-72)cGc>cAc		integrin, alpha 1							138	138	138					5																	52145208		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52145208G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.71G>A	5.37:g.52145208G>A	ENSP00000282588:p.Arg24His						p.R24H	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			2	529	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	24					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.71G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223791	0.09863	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	3.64	0.41730	.	0.976260	0.08444	N	0.944947	T	0.69450	0.3112	N	0.12182	0.205	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.13108	T	0.6	.	5.7312	0.18040	0.1697:0.1607:0.6696:0.0	.	24	P56199	ITA1_HUMAN	H	24	ENSP00000282588:R24H	ENSP00000282588:R24H	R	+	2	0	ITGA1	52180965	1.000000	0.71417	0.802000	0.32245	0.020000	0.10135	1.070000	0.30653	1.493000	0.48517	-0.138000	0.14375	CGC		0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		54	205	0	0	0	1	0	54	205					A	52145208	G	A	52145208	3	1	79	1	0	0	0	0	1	0	0	0	7902	1087	38	1	77	1	ITGA1	5	52145208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2054055	52145208	128770052	6143	16460											
ITGA1	3672	broad.mit.edu	37	chr5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatacatcaattcccaatGtcacagaagtaaaggagaac	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	106					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(316-318)Gtc>Atc		integrin, alpha 1							74	76	76					5																	52160617		2203	4298	6501	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52160617G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.316G>A	5.37:g.52160617G>A	ENSP00000282588:p.Val106Ile						p.V106I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			4	774	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	106					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.316G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474008	0.43942	.	.	ENSG00000213949	ENST00000282588	T	0.71341	-0.56	5.62	5.62	0.85841	.	0.132263	0.53938	D	0.000056	T	0.53417	0.1795	N	0.13235	0.315	0.40578	D	0.981368	P	0.36282	0.546	B	0.35312	0.2	T	0.56408	-0.7984	10	0.33940	T	0.23	.	13.273	0.60172	0.0726:0.0:0.9274:0.0	.	106	P56199	ITA1_HUMAN	I	106	ENSP00000282588:V106I	ENSP00000282588:V106I	V	+	1	0	ITGA1	52196374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.087000	0.50167	2.810000	0.96702	0.585000	0.79938	GTC		0.318	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		40	174	0	0	0	1	0	40	174					A	52160617	G	A	52160617	3	1	79	1	0	0	0	0	1	0	0	0	7902	1377	48	2	330	2	ITGA1	5	52160617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15409	52160617	128754643	6144	16461											
ITGA1	3672	broad.mit.edu	37	chr5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtaggtcccgagatGtggccgtagttaaagtgacc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	667					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCCCGAGATGTGGCCGTAGT	0.378																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1999-2001)Gtg>Atg		integrin, alpha 1							117	104	109					5																	52214572		2203	4299	6502	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52214572G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1999G>A	5.37:g.52214572G>A	ENSP00000282588:p.Val667Met						p.V667M	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			16	2457	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	667					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1999G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879359	0.91740	.	.	ENSG00000213949	ENST00000282588	D	0.82893	-1.66	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89183	0.3545	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	667	P56199	ITA1_HUMAN	M	667	ENSP00000282588:V667M	ENSP00000282588:V667M	V	+	1	0	ITGA1	52250329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.973000	0.76116	2.738000	0.93877	0.655000	0.94253	GTG		0.378	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		12	239	0	0	0	1	0	12	239					A	52214572	G	A	52214572	3	1	79	1	0	0	0	0	1	0	0	0	7902	1377	48	2	2061	2	ITGA1	5	52214572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53955	52214572	128700688	6145	16462											
ITGA1	3672	broad.mit.edu	37	chr5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatccagaaaatgggcctgTtcttgatgattctctaccaa	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2365-2367)gTt>gGt		integrin, alpha 1							136	130	132					5																	52218680		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52218680T>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2366T>G	5.37:g.52218680T>G	ENSP00000282588:p.Val789Gly						p.V789G	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			18	2824	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	789					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.2366T>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439252	0.83885	.	.	ENSG00000213949	ENST00000282588	T	0.57273	0.41	5.9	5.9	0.94986	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.70360	0.3215	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.73164	-0.4069	10	0.87932	D	0	.	16.3264	0.82983	0.0:0.0:0.0:1.0	.	789	P56199	ITA1_HUMAN	G	789	ENSP00000282588:V789G	ENSP00000282588:V789G	V	+	2	0	ITGA1	52254437	1.000000	0.71417	0.556000	0.28293	0.995000	0.86356	6.327000	0.72910	2.259000	0.74868	0.374000	0.22700	GTT		0.338	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		89	495	0	0	0	1	0	89	495					G	52218680	T	G	52218680	3	3	79	1	0	0	0	0	1	0	0	0	7902	1725	60	4	2436	4	ITGA1	5	52218680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4108	52218680	128696580	6146	16463											
ITGA1	3672	broad.mit.edu	37	chr5	52221300	52221301	+	Frame_Shift_Ins	INS	-	-	T													gcattattctccaaatctagINSttttttcaggaattgaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52221300_52221301insT	ENST00000282588.6	+	19	3054_3055	c.2596_2597insT	c.(2596-2598)gttfs	p.V866fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	866					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCAAATCTAGTTTTTTCAGGA	0.356																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2596-2598)tttfs		integrin, alpha 1																																				SO:0001589	frameshift_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52221300_52221301insT	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2602dupT	5.37:g.52221306_52221306dupT	ENSP00000282588:p.Val866fs						p.F866fs	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			19	3054_3055	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	866					B2RNU0	Frame_Shift_Ins	INS	ENST00000282588.6	37	c.2596_2597insT	CCDS3955.1																																																																																				0.356	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		59	308						59	308	---	---	---	---	T	52221301	-	T	52221300	7	5	79	1	0	1	1	0	0	0	0	0	7902	1029	36	0	2670	0	ITGA1	5	52221300	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2620	52221300	128693960	6147	16464											
ITGA1	3672	broad.mit.edu	37	chr5	52229781	52229781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacagtccctgaagttatTaattctactgaggacattgg	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	973					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2917-2919)atT>atC		integrin, alpha 1							41	46	44					5																	52229781		2199	4279	6478	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52229781T>C	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2919T>C	5.37:g.52229781T>C						CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	p.I973I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			23	3377	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	973					B2RNU0	Silent	SNP	ENST00000282588.6	37	c.2919T>C	CCDS3955.1																																																																																				0.269	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		30	240	0	0	0	1	0	30	240					C	52229781	T	C	52229781	2	2	79	1	0	0	0	0	0	0	0	1	7902	1742	61	4		4	ITGA1	5	52229781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8481	52229781	128685479	6148	16465											
ITGA1	3672	broad.mit.edu	37	chr5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatttttccagcttaaatCttactataaggggagaactt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1103					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3307-3309)Ctt>Att		integrin, alpha 1							100	114	109					5																	52240794		2203	4299	6502	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52240794C>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3307C>A	5.37:g.52240794C>A	ENSP00000282588:p.Leu1103Ile					CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	p.L1103I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			27	3765	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1103					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3307C>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966775	0.53507	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	5.63	5.63	0.86233	.	0.058135	0.64402	D	0.000001	T	0.41581	0.1165	L	0.41079	1.255	0.41696	D	0.989375	P	0.48911	0.917	P	0.44447	0.45	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.5106	0.56003	0.1665:0.8335:0.0:0.0	.	1103	P56199	ITA1_HUMAN	I	1103	ENSP00000282588:L1103I	ENSP00000282588:L1103I	L	+	1	0	ITGA1	52276551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.958000	0.40402	2.797000	0.96272	0.655000	0.94253	CTT		0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		98	422	1	0	2.6418e-55	1	3.30104e-55	98	422					A	52240794	C	A	52240794	3	1	79	1	0	0	0	0	1	0	0	0	7902	913	32	3	3413	3	ITGA1	5	52240794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11013	52240794	128674466	6149	16466											
MOCS2	4338	broad.mit.edu	37	chr5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttttccatatgggcAccttggcttttaaagtatca	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(484-486)gTg>gCg		molybdenum cofactor synthesis 2							90	93	92					5																	52396257		2203	4300	6503	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52396257A>G	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.485T>C	5.37:g.52396257A>G	ENSP00000380157:p.Val162Ala					MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000510818.2_3'UTR	p.V162A	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			6	1162	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Missense_Mutation	SNP	ENST00000396954.3	37	c.485T>C	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497555	0.85069	.	.	ENSG00000164172	ENST00000396954	T	0.22539	1.95	5.65	5.65	0.86999	.	0.123423	0.56097	D	0.000038	T	0.41259	0.1151	M	0.62154	1.92	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.08889	-1.0700	10	0.33940	T	0.23	-7.8556	15.3584	0.74448	1.0:0.0:0.0:0.0	.	162	O96007	MOC2B_HUMAN	A	162	ENSP00000380157:V162A	ENSP00000380157:V162A	V	-	2	0	MOCS2	52432014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.279000	0.76181	0.533000	0.62120	GTG		0.403	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		54	277	0	0	0	1	0	54	277					G	52396257	A	G	52396257	3	3	79	1	0	0	0	0	1	0	0	0	9732	159	6	4	89	4	MOCS2	5	52396257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155463	52396257	128519003	6150	16467											
FST	10468	broad.mit.edu	37	chr5	52778894	52778894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcccccaactgcatcccCtgtaaaggtaggactccttc	9	16	0	0	rs187224046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000256759.3	+	2	653	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000396947.3_Silent_p.P90P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	90	TB.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGCATCCCCTGTAAAGGTA	0.577											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(268-270)ccC>ccT		follistatin							57	61	60					5																	52778894		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52778894C>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.270C>T	5.37:g.52778894C>T			OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	FST_ENST00000256759.3_Silent_p.P90P	p.P90P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			2	436	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	90			TB.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.270C>T	CCDS3959.1																																																																																				0.577	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		57	244	0	0	0	1	0	57	244					T	52778894	C	T	52778894	2	4	79	1	0	0	0	0	0	0	0	1	6103	668	24	2		2	FST	5	52778894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382637	52778894	128136366	6151	16468											
FST	10468	broad.mit.edu	37	chr5	52779404	52779404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaacaaaccccgctgCgtctgcgccccggattgttc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000256759.3	+	3	731	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000396947.3_Silent_p.C116C	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	116	Follistatin-like 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AACCCCGCTGCGTCTGCGCCC	0.502																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(346-348)tgC>tgT		follistatin							73	72	72					5																	52779404		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779404C>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.348C>T	5.37:g.52779404C>T						FST_ENST00000256759.3_Silent_p.C116C	p.C116C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			3	514	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	116			Follistatin-like 1.|Kazal-like 1.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.348C>T	CCDS3959.1																																																																																				0.502	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		47	204	0	0	0	1	0	47	204					T	52779404	C	T	52779404	2	4	79	1	0	0	0	0	0	0	0	1	6103	776	27	1		1	FST	5	52779404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	52779404	128135856	6152	16469											
SNX18	112574	broad.mit.edu	37	chr5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcacttcgactggctgtAcgcgcgcctggcggagaagt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000326277.3	+	1	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C|SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	320	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(958-960)tAc>tGc		sorting nexin 18							46	44	45					5																	53814741		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814741A>G	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.959A>G	5.37:g.53814741A>G	ENSP00000317332:p.Tyr320Cys					SNX18_ENST00000326277.3_Missense_Mutation_p.Y320C|SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C	p.Y320C	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1153	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	320			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.959A>G	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161752	0.38119	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.39997	1.05;1.05;1.05	4.8	2.33	0.28932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92738	3.34	0.53005	D	0.999964	D;D	0.76494	0.997;0.999	D;D	0.79108	0.911;0.992	T	0.68243	-0.5460	10	0.87932	D	0	-19.6997	8.0741	0.30706	0.7244:0.1411:0.0:0.1345	.	320;320	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	320	ENSP00000342276:Y320C;ENSP00000370817:Y320C;ENSP00000317332:Y320C	ENSP00000317332:Y320C	Y	+	2	0	SNX18	53850498	1.000000	0.71417	0.298000	0.25002	0.377000	0.30045	9.121000	0.94375	0.309000	0.22966	-0.472000	0.04984	TAC		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			45	214	0	0	0	1	0	45	214					G	53814741	A	G	53814741	3	3	79	1	0	0	0	0	1	0	0	0	14939	391	14	4	961	4	SNX18	5	53814741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1035337	53814741	127100519	6153	16470											
SNX18	112574	broad.mit.edu	37	chr5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagacgtggacgcctggGtcttttccctagagtgtaag	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000326277.3	+	1	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000343017.6_Missense_Mutation_p.V587F|SNX18_ENST00000381410.4_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	587	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1759-1761)Gtc>Ttc		sorting nexin 18							74	75	75					5																	53815541		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815541G>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1759G>T	5.37:g.53815541G>T	ENSP00000317332:p.Val587Phe					SNX18_ENST00000326277.3_Missense_Mutation_p.V587F|SNX18_ENST00000381410.4_Intron	p.V587F	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1953	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	587			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1759G>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881811	0.17467	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	T;T	0.14391	2.51;2.62	3.06	0.213	0.15244	.	0.215838	0.39210	N	0.001424	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.20955	0.032	T	0.34329	-0.9833	10	0.87932	D	0	-1.5102	7.3114	0.26477	0.107:0.342:0.5509:0.0	.	587	Q96RF0	SNX18_HUMAN	F	587	ENSP00000342276:V587F;ENSP00000317332:V587F	ENSP00000317332:V587F	V	+	1	0	SNX18	53851298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.078000	0.11375	-0.229000	0.09854	-1.268000	0.01426	GTC		0.493	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			66	247	1	0	5.10652e-33	1	6.04401e-33	66	247					T	53815541	G	T	53815541	3	4	79	1	0	0	0	0	1	0	0	0	14939	1261	44	3	1761	3	SNX18	5	53815541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	800	53815541	127099719	6154	16471											
GZMK	3003	broad.mit.edu	37	chr5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaacagccgcaaaacTcaataaacatgtcaagatgc	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(382-384)cTc>cGc		granzyme K (granzyme 3; tryptase II)							76	80	79					5																	54327211		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54327211T>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.383T>G	5.37:g.54327211T>G	ENSP00000231009:p.Leu128Arg					CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.L128R	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			4	453	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	128			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.383T>G	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789054	0.31685	.	.	ENSG00000113088	ENST00000231009	D	0.90133	-2.62	4.78	4.78	0.61160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.24492	N	0.038041	D	0.93449	0.7910	M	0.77313	2.365	0.35020	D	0.75771	P	0.35124	0.485	P	0.48840	0.592	D	0.97186	0.9854	10	0.87932	D	0	.	13.4165	0.60972	0.0:0.0:0.0:1.0	.	128	P49863	GRAK_HUMAN	R	128	ENSP00000231009:L128R	ENSP00000231009:L128R	L	+	2	0	GZMK	54362968	0.010000	0.17322	0.095000	0.20976	0.263000	0.26337	0.943000	0.29030	2.011000	0.59026	0.533000	0.62120	CTC		0.438	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		76	359	0	0	0	1	0	76	359					G	54327211	T	G	54327211	3	3	79	1	0	0	0	0	1	0	0	0	6948	1551	54	4	397	4	GZMK	5	54327211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	511670	54327211	126588049	6155	16472											
CDC20B	166979	broad.mit.edu	37	chr5	54416252	54416252	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagaggagatattaaCctgtgagtttgtgcttgggg	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000381375.2	-	10	1487		c.e10+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.e11+1		cell division cycle 20B							168	159	162					5																	54416252		2203	4300	6503	SO:0001630	splice_region_variant	166979							g.chr5:54416252C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1341+1G>A	5.37:g.54416252C>T						CDC20B_ENST00000381375.2_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Splice_Site				Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		11	1604	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)						B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Splice_Site	SNP	ENST00000381375.2	37		CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232330	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC20B	54452009	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.747000	0.68689	2.556000	0.86216	0.655000	0.94253	.		0.448	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	Intron	93	424	0	0	0	1	0	93	424					T	54416252	C	T	54416252	5	4	79	1	0	0	0	0	0	0	1	0	3069	521	18	2	229	2	CDC20B	5	54416252	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89041	54416252	126499008	6156	16473											
CDC20B	166979	broad.mit.edu	37	chr5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcagaatacgtagcaTtaactgaatcgagtacctgt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000381375.2	-	3	288	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(142-144)aAt>aGt		cell division cycle 20B							70	66	67					5																	54442668		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54442668T>C	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.143A>G	5.37:g.54442668T>C	ENSP00000370781:p.Asn48Ser		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_ENST00000381375.2_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S	p.N48S			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	319	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	48					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.143A>G	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	T	4.960	0.178261	0.09443	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;2.31	4.79	0.18	0.15068	.	0.978663	0.08339	N	0.961176	T	0.14614	0.0353	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.34453	-0.9828	10	0.10902	T	0.67	-9.7405	5.6196	0.17450	0.0:0.2196:0.4748:0.3055	.	48;48;48;48	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	48;48;48;48;27	ENSP00000335664:N48S;ENSP00000296733:N48S;ENSP00000370781:N48S;ENSP00000315720:N48S;ENSP00000330566:N27S	ENSP00000296733:N48S	N	-	2	0	CDC20B	54478425	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.066000	0.14489	0.137000	0.18759	-0.280000	0.10049	AAT		0.428	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		43	189	0	0	0	1	0	43	189					C	54442668	T	C	54442668	3	2	79	1	0	0	0	0	1	0	0	0	3069	1493	52	4	1456	4	CDC20B	5	54442668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26416	54442668	126472592	6157	16474											
CCNO	10309	broad.mit.edu	37	chr5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcagatctgaacgggcaGcatgtgagtcaaggaagtac	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	335					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(1003-1005)Ctg>Atg		cyclin O							70	71	71					5																	54527253		2203	4300	6503	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527253G>T	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1003C>A	5.37:g.54527253G>T	ENSP00000282572:p.Leu335Met						p.L335M	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1159	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	335					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.1003C>A	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819454	0.50633	.	.	ENSG00000152669	ENST00000282572	T	0.26518	1.73	5.7	1.29	0.21616	.	0.215519	0.37095	N	0.002246	T	0.35451	0.0932	L	0.50333	1.59	0.32880	D	0.510423	D	0.56968	0.978	P	0.61940	0.896	T	0.44620	-0.9316	10	0.59425	D	0.04	.	7.2781	0.26296	0.2535:0.0:0.6241:0.1224	.	335	P22674	CCNO_HUMAN	M	335	ENSP00000282572:L335M	ENSP00000282572:L335M	L	-	1	2	CCNO	54563010	0.981000	0.34729	0.998000	0.56505	0.615000	0.37417	1.260000	0.32968	0.322000	0.23283	0.561000	0.74099	CTG		0.582	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		57	306	1	0	6.4308e-24	1	7.32928e-24	57	306					T	54527253	G	T	54527253	3	4	79	1	0	0	0	0	1	0	0	0	2942	962	34	3	53	3	CCNO	5	54527253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84585	54527253	126388007	6158	16475											
CCNO	10309	broad.mit.edu	37	chr5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcagcatgtgagtcaagGaagtactgtttatggccacc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	330					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(988-990)tCc>tTc		cyclin O							72	73	73					5																	54527267		2203	4300	6503	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527267G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.989C>T	5.37:g.54527267G>A	ENSP00000282572:p.Ser330Phe						p.S330F	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1145	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	330					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.989C>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321669	0.41096	.	.	ENSG00000152669	ENST00000282572	T	0.19394	2.15	5.7	5.7	0.88788	.	0.363150	0.27673	N	0.018331	T	0.31513	0.0799	L	0.35414	1.06	0.23984	N	0.996264	D	0.60575	0.988	P	0.59288	0.855	T	0.22941	-1.0202	10	0.15499	T	0.54	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	330	P22674	CCNO_HUMAN	F	330	ENSP00000282572:S330F	ENSP00000282572:S330F	S	-	2	0	CCNO	54563024	0.989000	0.36119	0.683000	0.30040	0.765000	0.43378	4.199000	0.58426	2.696000	0.92011	0.561000	0.74099	TCC		0.592	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		56	312	0	0	0	1	0	56	312					A	54527267	G	A	54527267	3	1	79	1	0	0	0	0	1	0	0	0	2942	1174	41	2	67	2	CCNO	5	54527267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	54527267	126387993	6159	16476											
SKIV2L2	23517	broad.mit.edu	37	chr5	54674996	54674996	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggctggggagtagtggtGaatttctcaaaaaagtcaaa	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	675					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTAGTGGTGAATTTCTCAA	0.294																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2023-2025)gtG>gtT		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							50	56	54					5																	54674996		2203	4298	6501	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54674996G>T	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2025G>T	5.37:g.54674996G>T						SKIV2L2_ENST00000545714.1_Silent_p.V574V	p.V675V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			18	2279	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	675					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.2025G>T	CCDS3967.1																																																																																				0.294	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			42	169	1	0	2.37825e-27	1	2.75276e-27	42	169					T	54674996	G	T	54674996	2	4	79	1	0	0	0	0	0	0	0	1	14410	1277	45	3		3	SKIV2L2	5	54674996	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147729	54674996	126240264	6160	16477											
SKIV2L2	23517	broad.mit.edu	37	chr5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attattaagctgctttgtgtTtcaagagaatgtaagttaat	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	914					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCTTTGTGTTTCAAGAGAAT	0.323																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2740-2742)tTt>tGt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							164	147	153					5																	54706447		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54706447T>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2741T>G	5.37:g.54706447T>G	ENSP00000230640:p.Phe914Cys					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	p.F914C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			23	2995	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	914					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.2741T>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758141	0.49468	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.25749	1.78;1.78	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.33093	0.98	0.80722	D	1	B;B	0.23650	0.07;0.089	B;B	0.29353	0.043;0.101	T	0.03717	-1.1010	10	0.35671	T	0.21	-32.1727	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813;914	F5H7E2;P42285	.;SK2L2_HUMAN	C	914;813	ENSP00000230640:F914C;ENSP00000442583:F813C	ENSP00000230640:F914C	F	+	2	0	SKIV2L2	54742204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.549000	0.82163	2.047000	0.60756	0.482000	0.46254	TTT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			69	356	0	0	0	1	0	69	356					G	54706447	T	G	54706447	3	3	79	1	0	0	0	0	1	0	0	0	14410	1841	64	4	2831	4	SKIV2L2	5	54706447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31451	54706447	126208813	6161	16478											
DDX4	54514	broad.mit.edu	37	chr5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgagataatacatccacaAtgggtggttttggagttgga	13	5	0	1	rs202041209	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	82	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATCCACAATGGGTGGTTT	0.318																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(244-246)Atg>Ctg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							134	132	133					5																	55059041		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55059041A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.244A>C	5.37:g.55059041A>C	ENSP00000424838:p.Met82Leu					DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR	p.M82L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			5	336	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	82			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.244A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	3.374	-0.127770	0.06753	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.43294	2.08;2.06;2.1;3.58;0.98;0.97;2.08;0.95	4.99	-7.6	0.01303	.	0.763357	0.11712	N	0.536851	T	0.25269	0.0614	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.17832	T	0.49	-15.6323	11.6015	0.51006	0.7513:0.1138:0.1349:0.0	.	82;82;82	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	82;82;82;82;56;82;82;82;82	ENSP00000334167:M82L;ENSP00000425359:M82L;ENSP00000424838:M82L;ENSP00000427167:M82L;ENSP00000424779:M56L;ENSP00000424112:M82L;ENSP00000347087:M82L;ENSP00000427522:M82L	ENSP00000334167:M82L	M	+	1	0	DDX4	55094798	0.001000	0.12720	0.005000	0.12908	0.082000	0.17680	-1.309000	0.02728	-1.647000	0.01511	-0.467000	0.05162	ATG		0.318	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		59	288	0	0	0	1	0	59	288					C	55059041	A	C	55059041	3	2	79	1	0	0	0	0	1	0	0	0	4371	101	4	4	258	4	DDX4	5	55059041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	352594	55059041	125856219	6162	16479											
DDX4	54514	broad.mit.edu	37	chr5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatgcagcgcactggtgGcctttttggttctagaagac	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	180	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCACTGGTGGCCTTTTTGGT	0.338																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(538-540)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							105	105	105					5																	55076936		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55076936G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.539G>A	5.37:g.55076936G>A	ENSP00000424838:p.Gly180Asp					DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D	p.G180D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			9	631	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	180			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.539G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993511	0.54041	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.25085	1.91;1.85;1.82;3.35;1.91;1.87	5.39	5.39	0.77823	.	0.248184	0.39475	N	0.001360	T	0.17831	0.0428	N	0.22421	0.69	0.35274	D	0.780699	P;P;B;P	0.43826	0.547;0.779;0.41;0.818	B;B;B;B	0.37650	0.245;0.184;0.211;0.255	T	0.14896	-1.0456	10	0.37606	T	0.19	-24.5727	14.5308	0.67923	0.0:0.0:1.0:0.0	.	160;47;146;180	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	D	146;160;180;160;146;47	ENSP00000334167:G146D;ENSP00000425359:G160D;ENSP00000424838:G180D;ENSP00000427167:G160D;ENSP00000347087:G146D;ENSP00000423123:G47D	ENSP00000334167:G146D	G	+	2	0	DDX4	55112693	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.772000	0.47678	2.801000	0.96364	0.650000	0.86243	GGC		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		70	339	0	0	0	1	0	70	339					A	55076936	G	A	55076936	3	1	79	1	0	0	0	0	1	0	0	0	4371	1203	42	2	610	2	DDX4	5	55076936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17895	55076936	125838324	6163	16480											
DDX4	54514	broad.mit.edu	37	chr5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttggccagttctcaAaaagagaaaagctcgttgaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	527					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTTCTCAAAAAGAGAAAA	0.333																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1579-1581)Aaa>Caa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							123	122	123					5																	55094363		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094363A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1579A>C	5.37:g.55094363A>C	ENSP00000424838:p.Lys527Gln					DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q	p.K527Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			18	1671	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	527					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1579A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575244	0.86542	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.96459	-4.02;-4.02;-4.02;2.4;-4.02;-4.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.99336	4.52	0.58432	D	0.999993	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;0.999	D	0.99066	1.0832	10	0.87932	D	0	-17.7786	15.951	0.79840	1.0:0.0:0.0:0.0	.	507;378;493;527	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Q	493;507;527;507;493;378	ENSP00000334167:K493Q;ENSP00000425359:K507Q;ENSP00000424838:K527Q;ENSP00000427167:K507Q;ENSP00000347087:K493Q;ENSP00000423123:K378Q	ENSP00000334167:K493Q	K	+	1	0	DDX4	55130120	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.871000	0.92346	2.172000	0.68678	0.533000	0.62120	AAA		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		99	415	0	0	0	1	0	99	415					C	55094363	A	C	55094363	3	2	79	1	0	0	0	0	1	0	0	0	4371	15	1	4	1686	4	DDX4	5	55094363	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17427	55094363	125820897	6164	16481											
DDX4	54514	broad.mit.edu	37	chr5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcacagcctctagtaaaaGtattgacagatgtaagttaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	659	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTAGTAAAAGTATTGACAGA	0.348																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1975-1977)Gta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							129	130	130					5																	55110988		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55110988G>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1975G>T	5.37:g.55110988G>T	ENSP00000424838:p.Val659Leu					DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L	p.V659L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			20	2067	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	659			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1975G>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111772	0.37242	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.129390	0.52532	D	0.000067	D	0.86121	0.5857	N	0.00841	-1.15	0.42344	D	0.99234	B;P;P;D	0.71674	0.189;0.949;0.562;0.998	B;P;B;D	0.75484	0.155;0.53;0.32;0.986	D	0.87474	0.2416	10	0.38643	T	0.18	-13.0889	10.3328	0.43833	0.1493:0.0:0.8507:0.0	.	639;510;625;659	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	625;639;659;625;510	ENSP00000334167:V625L;ENSP00000425359:V639L;ENSP00000424838:V659L;ENSP00000347087:V625L;ENSP00000423123:V510L	ENSP00000334167:V625L	V	+	1	0	DDX4	55146745	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	3.229000	0.51278	1.345000	0.45676	0.561000	0.74099	GTA		0.348	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		110	532	1	0	1.07149e-41	1	1.30274e-41	110	532					T	55110988	G	T	55110988	3	4	79	1	0	0	0	0	1	0	0	0	4371	1029	36	3	2090	3	DDX4	5	55110988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16625	55110988	125804272	6165	16482											
IL31RA	133396	broad.mit.edu	37	chr5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctctgtgtatccaatgTtgcatgacaaagttggcgag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000447346.2	+	10	1365	c.1300T>G	c.(1300-1302)Ttg>Gtg	p.L434V	IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000396834.1_Missense_Mutation_p.L415V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	402	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTATCCAATGTTGCATGACAA	0.438																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1243-1245)Ttg>Gtg		interleukin 31 receptor A							116	103	107					5																	55203234		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55203234T>G	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1300T>G	5.37:g.55203234T>G	ENSP00000415900:p.Leu434Val					IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000447346.2_Missense_Mutation_p.L434V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V	p.L415V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			12	1739	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	402			Fibronectin type-III 4.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1243T>G	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545020	0.13312	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.78	0.436	0.16549	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.773311	0.12435	N	0.469226	T	0.36110	0.0955	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.29988	0.068;0.112;0.112;0.112;0.264	B;B;B;B;B	0.24701	0.014;0.032;0.032;0.032;0.055	T	0.25502	-1.0130	10	0.31617	T	0.26	-20.9055	1.2853	0.02049	0.3049:0.0871:0.158:0.45	.	402;434;415;434;434	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	V	434;415;434;434;292;292;415	ENSP00000380048:L434V;ENSP00000380046:L415V;ENSP00000415900:L434V;ENSP00000351935:L434V;ENSP00000297015:L292V;ENSP00000427533:L292V;ENSP00000347047:L415V	ENSP00000297015:L292V	L	+	1	2	IL31RA	55238991	0.000000	0.05858	0.008000	0.14137	0.430000	0.31655	-0.124000	0.10595	0.504000	0.28082	0.533000	0.62120	TTG		0.438	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		10	250	0	0	0	1	0	10	250					G	55203234	T	G	55203234	3	3	79	1	0	0	0	0	1	0	0	0	7721	1722	60	4	1338	4	IL31RA	5	55203234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92246	55203234	125712026	6166	16483											
IL6ST	3572	broad.mit.edu	37	chr5	55237234	55237234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtttgaagtactgttgCctgggcaaaataccatcacc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.R811R|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	811					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2431-2433)agG>agA		interleukin 6 signal transducer (gp130, oncostatin M receptor)							95	97	96					5																	55237234		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237234C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2433G>A	5.37:g.55237234C>T						CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Silent_p.R811R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000381287.4_3'UTR	p.R811R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2745	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	811					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2433G>A	CCDS3971.1																																																																																				0.433	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		128	538	0	0	0	1	0	128	538					T	55237234	C	T	55237234	2	4	79	1	0	0	0	0	0	0	0	1	7733	738	26	2		2	IL6ST	5	55237234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34000	55237234	125678026	6167	16484											
IL6ST	3572	broad.mit.edu	37	chr5	55237336	55237336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggtagactcggatcttgaGaagacttggactgacggaac	14	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.F777F|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	777					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2329-2331)ttC>ttT		interleukin 6 signal transducer (gp130, oncostatin M receptor)							126	126	126					5																	55237336		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237336G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2331C>T	5.37:g.55237336G>A						CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Silent_p.F777F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000381287.4_3'UTR	p.F777F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2643	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	777					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2331C>T	CCDS3971.1																																																																																				0.463	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		101	459	0	0	0	1	0	101	459					A	55237336	G	A	55237336	2	1	79	1	0	0	0	0	0	0	0	1	7733	933	33	2		2	IL6ST	5	55237336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	55237336	125677924	6168	16485											
IL6ST	3572	broad.mit.edu	37	chr5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgaacagtaggtcctTtggaaggtgctgtaacagag	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAGGTCCTTTGGAAGGTGC	0.343			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1561-1563)aAa>aGa		interleukin 6 signal transducer (gp130, oncostatin M receptor)							69	60	63					5																	55247894		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247894T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1562A>G	5.37:g.55247894T>C	ENSP00000370698:p.Lys521Arg					IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR	p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			13	1874	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	521			Fibronectin type-III 5.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1562A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757534	0.31137	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53640	0.61;0.61;2.3	5.83	-3.57	0.04612	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460210	0.28109	N	0.016572	T	0.25644	0.0624	L	0.28458	0.855	0.52099	D	0.999945	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.002;0.009;0.002	T	0.15521	-1.0434	10	0.10902	T	0.67	.	8.4371	0.32793	0.1046:0.4327:0.0:0.4626	.	521;460;521	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	521;521;460	ENSP00000370698:K521R;ENSP00000338799:K521R;ENSP00000370694:K460R	ENSP00000338799:K521R	K	-	2	0	IL6ST	55283651	0.747000	0.28283	0.976000	0.42696	0.953000	0.61014	-0.512000	0.06313	-0.357000	0.08175	-0.899000	0.02877	AAA		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		9	211	0	0	0	1	0	9	211					C	55247894	T	C	55247894	3	2	79	1	0	0	0	0	1	0	0	0	7733	1841	64	4	1214	4	IL6ST	5	55247894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10558	55247894	125667366	6169	16486											
IL6ST	3572	broad.mit.edu	37	chr5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgttttgctttgcaaTcagcaaacttgtgtgttgcc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	171	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(511-513)gAt>gGt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							85	77	79					5																	55260120		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55260120T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.512A>G	5.37:g.55260120T>C	ENSP00000370698:p.Asp171Gly					IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G	p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			6	824	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	171			Fibronectin type-III 1.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.512A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858626	0.51376	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547899	0.20309	N	0.094861	D	0.88599	0.6480	M	0.66939	2.045	0.30165	N	0.801841	D;P;P	0.58970	0.984;0.955;0.907	P;P;P	0.61477	0.889;0.754;0.677	D	0.85066	0.0937	10	0.27082	T	0.32	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	171;171;171	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	G	171	ENSP00000370698:D171G;ENSP00000338799:D171G;ENSP00000370694:D171G;ENSP00000370687:D171G;ENSP00000444456:D171G;ENSP00000435399:D171G	ENSP00000338799:D171G	D	-	2	0	IL6ST	55295877	1.000000	0.71417	0.959000	0.39883	0.079000	0.17450	4.080000	0.57620	2.371000	0.80710	0.533000	0.62120	GAT		0.358	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		38	179	0	0	0	1	0	38	179					C	55260120	T	C	55260120	3	2	79	1	0	0	0	0	1	0	0	0	7733	1435	50	4	2292	4	IL6ST	5	55260120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12226	55260120	125655140	6170	16487											
IL6ST	3572	broad.mit.edu	37	chr5	55264223	55264223	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaggtttttctggaggCactaaaagggattaattagc	10	4	1	0	rs200977907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000502326.3_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	124					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e5-1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							109	110	110					5																	55264223		2202	4300	6502	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55264223C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.371-1G>T	5.37:g.55264223C>A						IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.L124_splice|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124_splice|IL6ST_ENST00000336909.5_Splice_Site_p.L124_splice|IL6ST_ENST00000381294.3_Splice_Site_p.L124_splice|IL6ST_ENST00000522633.2_Splice_Site_p.L124_splice|IL6ST_ENST00000381287.4_Splice_Site_p.L124_splice	p.L124_splice	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			5	684	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	124					A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37	c.370_splice	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004958	0.19199	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	0.656	0.17844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.599517	0.18360	N	0.143601	T	0.11367	0.0277	N	0.21448	0.665	0.80722	D	1	B;B;B	0.20780	0.004;0.048;0.001	B;B;B	0.18871	0.005;0.023;0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	.	5.608	0.17391	0.3904:0.4128:0.0:0.1967	.	124;124;124	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	F	124	ENSP00000370698:L124F;ENSP00000338799:L124F;ENSP00000370694:L124F;ENSP00000370687:L124F;ENSP00000444456:L124F;ENSP00000435399:L124F	ENSP00000338799:L124F	L	-	3	2	IL6ST	55299980	0.975000	0.34042	0.993000	0.49108	0.842000	0.47809	-0.009000	0.12765	-0.102000	0.12197	-0.143000	0.13931	TTG		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Missense_Mutation	60	376	1	0	1.53716e-24	1	1.75837e-24	60	376					A	55264223	C	A	55264223	5	1	79	1	0	0	0	0	0	0	1	0	7733	724	25	3	2436	3	IL6ST	5	55264223	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4103	55264223	125651037	6171	16488											
ANKRD55	79722	broad.mit.edu	37	chr5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggccggacactgagcaatCtgtccagcagcttatcagaa	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	518										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)				ACTGAGCAATCTGTCCAGCAG	0.468																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1552-1554)aGa>aAa		ankyrin repeat domain 55							145	147	146					5																	55407022		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407022C>T	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.1553G>A	5.37:g.55407022C>T	ENSP00000342295:p.Arg518Lys					ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K	p.R518K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1704	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	517					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1553G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	0.152	-1.090391	0.01873	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36878	1.46;1.23;1.58	5.63	4.77	0.60923	.	0.201254	0.44285	D	0.000473	T	0.21347	0.0514	N	0.14661	0.345	0.27934	N	0.937774	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.11567	-1.0582	10	0.15952	T	0.53	.	13.1596	0.59537	0.0:0.926:0.0:0.074	.	518;517	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	518;518;475;230	ENSP00000342295:R518K;ENSP00000424230:R475K;ENSP00000429421:R230K	ENSP00000342295:R518K	R	-	2	0	ANKRD55	55442779	0.982000	0.34865	0.896000	0.35187	0.049000	0.14656	2.391000	0.44424	1.527000	0.49086	-0.136000	0.14681	AGA		0.468	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		33	928	0	0	0	1	0	33	928					T	55407022	C	T	55407022	3	4	79	1	0	0	0	0	1	0	0	0	681	913	32	2	303	2	ANKRD55	5	55407022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142799	55407022	125508238	6172	16489											
MAP3K1	4214	broad.mit.edu	37	chr5	56155658	56155658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaaaggccgacgcagTccttctcctggcaactcccc	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	250					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCGACGCAGTCCTTCTCCTG	0.498																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(748-750)agT>agC		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							44	45	45					5																	56155658		1925	4130	6055	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56155658T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.750T>C	5.37:g.56155658T>C						AC008937.2_ENST00000415589.1_RNA	p.S250S	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	750	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	250						Silent	SNP	ENST00000399503.3	37	c.750T>C	CCDS43318.1																																																																																				0.498	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		27	141	0	0	0	1	0	27	141					C	56155658	T	C	56155658	2	2	79	1	0	0	0	0	0	0	0	1	9284	1664	58	4		4	MAP3K1	5	56155658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748636	56155658	124759602	6173	16490											
MAP3K1	4214	broad.mit.edu	37	chr5	56171053	56171053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcttcccagaccagtatCtcaggagatgtggtggaggc	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56171053C>A	ENST00000399503.3	+	10	1881	c.1881C>A	c.(1879-1881)atC>atA	p.I627I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	627					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCAGTATCTCAGGAGATG	0.547																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1879-1881)atC>atA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							72	78	76					5																	56171053		2060	4226	6286	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56171053C>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1881C>A	5.37:g.56171053C>A							p.I627I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	1881	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	627						Silent	SNP	ENST00000399503.3	37	c.1881C>A	CCDS43318.1																																																																																				0.547	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		9	268	1	0	0.000274275	1	0.000278163	9	268					A	56171053	C	A	56171053	2	1	79	1	0	0	0	0	0	0	0	1	9284	903	32	3		3	MAP3K1	5	56171053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15395	56171053	124744207	6174	16491											
MAP3K1	4214	broad.mit.edu	37	chr5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaaccacagagaacaGttcccctgagtgcacagtcc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGAGAACAGTTCCCCTGAG	0.473																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2698-2700)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							70	65	66					5																	56177726		1922	4134	6056	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177726G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2699G>T	5.37:g.56177726G>T	ENSP00000382423:p.Ser900Ile						p.S900I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2699	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	900	DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).					Missense_Mutation	SNP	ENST00000399503.3	37	c.2699G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567040	0.03910	.	.	ENSG00000095015	ENST00000399503	T	0.35048	1.33	5.21	1.89	0.25635	.	1.227700	0.06049	N	0.656229	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.29088	-1.0023	10	0.52906	T	0.07	.	2.8169	0.05458	0.3889:0.236:0.375:0.0	.	900	Q13233	M3K1_HUMAN	I	900	ENSP00000382423:S900I	ENSP00000382423:S900I	S	+	2	0	MAP3K1	56213483	0.987000	0.35691	0.002000	0.10522	0.001000	0.01503	2.621000	0.46418	0.688000	0.31529	-0.126000	0.14955	AGT		0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		61	216	1	0	1.08141e-31	1	1.27425e-31	61	216					T	56177726	G	T	56177726	3	4	79	1	0	0	0	0	1	0	0	0	9284	1029	36	3	2753	3	MAP3K1	5	56177726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6673	56177726	124737534	6175	16492											
MAP3K1	4214	broad.mit.edu	37	chr5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaaggcagaccccacaGtcagtgtttgaactcctctc	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	964					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCCCACAGTCAGTGTTTG	0.453																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2890-2892)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							113	111	111					5																	56177918		1912	4145	6057	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177918G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2891G>T	5.37:g.56177918G>T	ENSP00000382423:p.Ser964Ile						p.S964I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2891	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	964						Missense_Mutation	SNP	ENST00000399503.3	37	c.2891G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475157	0.63737	.	.	ENSG00000095015	ENST00000399503	T	0.37235	1.21	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.54323	1.7	0.54753	D	0.999986	P	0.47409	0.895	P	0.47470	0.548	T	0.43653	-0.9378	10	0.72032	D	0.01	.	14.4987	0.67707	0.0703:0.0:0.9297:0.0	.	964	Q13233	M3K1_HUMAN	I	964	ENSP00000382423:S964I	ENSP00000382423:S964I	S	+	2	0	MAP3K1	56213675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.230000	0.65321	1.421000	0.47157	0.655000	0.94253	AGT		0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		100	340	1	0	7.2861e-57	1	9.12103e-57	100	340					T	56177918	G	T	56177918	3	4	79	1	0	0	0	0	1	0	0	0	9284	1029	36	3	2945	3	MAP3K1	5	56177918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	56177918	124737342	6176	16493											
MAP3K1	4214	broad.mit.edu	37	chr5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcattcacagagatgTcaaaggtgagaattcttcta	7	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACAGAGATGTCAAAGGTGAG	0.363																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4108-4110)gTc>gCc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							83	75	78					5																	56181885		1823	4074	5897	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181885T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4109T>C	5.37:g.56181885T>C	ENSP00000382423:p.Val1370Ala						p.V1370A	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	4109	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1370			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4109T>C	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680857	0.68042	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082046	0.52532	D	0.000071	T	0.44623	0.1302	M	0.93420	3.415	0.47441	D	0.999429	P	0.38280	0.625	B	0.37508	0.252	T	0.58912	-0.7552	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	1370	Q13233	M3K1_HUMAN	A	1370	ENSP00000382423:V1370A	ENSP00000382423:V1370A	V	+	2	0	MAP3K1	56217642	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.654000	0.74387	2.195000	0.70347	0.533000	0.62120	GTC		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		48	420	0	0	0	1	0	48	420					C	56181885	T	C	56181885	3	2	79	1	0	0	0	0	1	0	0	0	9284	1667	58	4	4175	4	MAP3K1	5	56181885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3967	56181885	124733375	6177	16494											
MIER3	166968	broad.mit.edu	37	chr5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccttattcttctgtataaGatgaaaatcttttccaaaaa	3	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000381199.3	-	10	917	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTCTGTATAAGATGAAAATCT	0.303																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(922-924)Ctt>Ttt		mesoderm induction early response 1, family member 3							70	71	71					5																	56224611		2203	4299	6502	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56224611G>A	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.907C>T	5.37:g.56224611G>A	ENSP00000370596:p.Leu303Phe					MIER3_ENST00000381199.3_Missense_Mutation_p.L303F|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F	p.L308F			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	10	937	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	303			SANT.		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.922C>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.569239	0.86439	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.110123	0.64402	D	0.000006	T	0.65144	0.2663	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.67548	0.905;0.952;0.863	T	0.65940	-0.6046	10	0.59425	D	0.04	-10.7073	19.6987	0.96043	0.0:0.0:1.0:0.0	.	303;308;302	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	F	308;302;303;240	ENSP00000370624:L308F;ENSP00000370611:L302F;ENSP00000370596:L303F;ENSP00000386584:L240F	ENSP00000370596:L303F	L	-	1	0	MIER3	56260368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.647000	0.89833	0.467000	0.42956	CTT		0.303	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		45	225	0	0	0	1	0	45	225					A	56224611	G	A	56224611	3	1	79	1	0	0	0	0	1	0	0	0	9623	942	33	2	761	2	MIER3	5	56224611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	56224611	124690649	6178	16495											
ACTBL2	345651	broad.mit.edu	37	chr5	56778460	56778460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacagcccggggggcatcGtcaccaccaaagcctgcctt	10	16	1	0	rs374948712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D25D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20616	0.0		0.0	False		,,,				2504	0.0					ENST00000423391.1																			1	Substitution - coding silent(1)	p.D25D(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(73-75)gaC>gaT		actin, beta-like 2		G		3,4403	6.2+/-15.9	0,3,2200	85	58	67		75	-6.9	0.6	5		67	0,8600		0,0,4300	no	coding-synonymous	ACTBL2	NM_001017992.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		25/377	56778460	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778460G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.75C>T	5.37:g.56778460G>A						CTD-2023N9.1_ENST00000506106.1_RNA	p.D25D	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	176	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	25					B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	c.75C>T	CCDS34163.1																																																																																				0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		35	182	0	0	0	1	0	35	182					A	56778460	G	A	56778460	2	1	79	1	0	0	0	0	0	0	0	1	194	1136	40	1		1	ACTBL2	5	56778460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	553849	56778460	124136800	6179	16496											
PLK2	10769	broad.mit.edu	37	chr5	57753328	57753328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttacattacacagcccaGggcccaaatgtctgattcac	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACACAGCCCAGGGCCCAAATG	0.368																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(796-798)Ctg>Ttg		polo-like kinase 2							91	89	90					5																	57753328		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753328G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.796C>T	5.37:g.57753328G>A						PLK2_ENST00000502671.1_5'UTR	p.L266L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	6	1096	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	266			Protein kinase.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.796C>T	CCDS3974.1																																																																																				0.368	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		36	199	0	0	0	1	0	36	199					A	57753328	G	A	57753328	2	1	79	1	0	0	0	0	0	0	0	1	12138	991	35	2		2	PLK2	5	57753328	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	974868	57753328	123161932	6180	16497											
GAPT	202309	broad.mit.edu	37	chr5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtttttacaaaggagaaGcagcaggagaaaagtctgta	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	51					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448																																						ENST00000396776.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(151-153)aGc>aAc		GRB2-binding adaptor protein, transmembrane							65	65	65					5																	57790515		2203	4300	6503	SO:0001583	missense	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790515G>A	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"GRB2-binding transmembrane adaptor"		"chromosome 5 open reading frame 29"	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.152G>A	5.37:g.57790515G>A	ENSP00000379997:p.Ser51Asn					GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	614	+			51						Missense_Mutation	SNP	ENST00000396776.2	37	c.152G>A	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713986	0.15306	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.82	-0.16	0.13375	.	0.655330	0.14962	N	0.288322	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.18304	-1.0341	10	0.56958	D	0.05	-2.826	5.2222	0.15375	0.2925:0.1463:0.5612:0.0	.	51	Q8N292	GAPT_HUMAN	N	51	ENSP00000423113:S51N;ENSP00000379997:S51N;ENSP00000422645:S51N;ENSP00000323075:S51N	ENSP00000323075:S51N	S	+	2	0	GAPT	57826272	0.044000	0.20184	0.107000	0.21349	0.270000	0.26580	0.039000	0.13884	-0.152000	0.11156	0.591000	0.81541	AGC		0.448	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687		49	223	0	0	0	1	0	49	223					A	57790515	G	A	57790515	3	1	79	1	0	0	0	0	1	0	0	0	6266	971	34	2	154	2	GAPT	5	57790515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37187	57790515	123124745	6181	16498											
PDE4D	5144	broad.mit.edu	37	chr5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A													tggctttcctcttcttccccINStactgcctcctcttcaacct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	790					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCTTCCCCTACTGCCTCCT	0.436																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(2365-2370)gtgggafs		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)																																			SO:0001589	frameshift_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270553_58270554insA		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2367_2368insT	5.37:g.58270553_58270554insA	ENSP00000345502:p.Gly790fs					PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.VG653fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.VG659fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.VG487fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.VG498fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.VG725fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.VG667fs	p.VG789fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2542_2543	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	789					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Frame_Shift_Ins	INS	ENST00000340635.6	37	c.2367_2368insT	CCDS47213.1																																																																																				0.436	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			243	1086						243	1086	---	---	---	---	A	58270554	-	A	58270553	7	5	79	1	0	1	1	0	0	0	0	0	11684	681	24	0	65	0	PDE4D	5	58270553	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	480038	58270553	122644707	6182	16499											
PDE4D	5144	broad.mit.edu	37	chr5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggtcttcgagagtcataaGatatgtaattaaagtatcta	8	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	448					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGAGTCATAAGATATGTAATT	0.333																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1342-1344)Ctt>Att		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						110	112	111					5																	58285692		1882	4097	5979	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58285692G>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1342C>A	5.37:g.58285692G>T	ENSP00000345502:p.Leu448Ile					PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I	p.L448I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	10	1517	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	448					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1342C>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411307	0.62399	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.5	4.63	0.57726	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.65975	2.015	0.42555	D	0.993127	B;P;P;B;B;P;B;B	0.49783	0.013;0.928;0.897;0.405;0.405;0.897;0.008;0.008	B;D;D;B;B;D;B;B	0.70716	0.059;0.955;0.97;0.34;0.34;0.97;0.031;0.076	T	0.76860	-0.2803	10	0.33940	T	0.23	.	6.4503	0.21900	0.1786:0.1537:0.6677:0.0	.	387;448;384;311;326;318;223;157	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	448;317;312;384;146;157;318;326;387;387;146	ENSP00000345502:L448I;ENSP00000353152:L312I;ENSP00000424852:L384I;ENSP00000351800:L146I;ENSP00000321739:L157I;ENSP00000425605:L318I;ENSP00000384806:L326I;ENSP00000423094:L387I;ENSP00000442734:L387I;ENSP00000421013:L146I	ENSP00000321739:L157I	L	-	1	0	PDE4D	58321449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	1.523000	0.49018	0.655000	0.94253	CTT		0.333	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			16	204	1	0	0.000308642	1	0.000312942	16	204					T	58285692	G	T	58285692	3	4	79	1	0	0	0	0	1	0	0	0	11684	942	33	3	1111	3	PDE4D	5	58285692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	58285692	122629568	6183	16500											
PDE4D	5144	broad.mit.edu	37	chr5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggaaggactcccgtcGttgactgtggacaaaatttg	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	187					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GACTCCCGTCGTTGACTGTGG	0.517																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(559-561)Cga>Tga		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						103	102	103					5																	58511691		1910	4125	6035	SO:0001587	stop_gained	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58511691G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.559C>T	5.37:g.58511691G>A	ENSP00000345502:p.Arg187*					PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*	p.R187*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	2	734	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	187					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.559C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	44	10.868730	0.99481	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	.	.	.	4.66	3.8	0.43715	.	0.284954	0.32548	N	0.005949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.142	0.31089	0.0804:0.0:0.7639:0.1557	.	.	.	.	X	187;56;51;123;57;65;126;126;123	.	ENSP00000308485:R123X	R	-	1	2	PDE4D	58547448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	1.090000	0.41315	0.591000	0.81541	CGA		0.517	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			57	264	0	0	0	1	0	57	264					A	58511691	G	A	58511691	4	1	79	1	0	0	0	0	0	1	0	0	11684	1153	40	1	1926	1	PDE4D	5	58511691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225999	58511691	122403569	6184	16501											
DEPDC1B	55789	broad.mit.edu	37	chr5	59940639	59940639	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattatggatgatgaacttCgaattgacaagtttgacgtc	9	6	0	4	rs141096982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000545085.1_Silent_p.S187S|DEPDC1B_ENST00000453022.2_Silent_p.S214S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	214	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16621	0.0		0.0	False		,,,				2504	0.0					ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(640-642)tcG>tcA		DEP domain containing 1B		C	,	8,4398	14.3+/-33.2	0,8,2195	94	93	93		642,642	-0.7	1	5	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DEPDC1B	NM_001145208.1,NM_018369.2	,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,	214/468,214/530	59940639	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59940639C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.642G>A	5.37:g.59940639C>T						DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	p.S214S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			5	709	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	214			Rho-GAP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.642G>A	CCDS3977.1																																																																																				0.303	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		37	199	0	0	0	1	0	37	199					T	59940639	C	T	59940639	2	4	79	1	0	0	0	0	0	0	0	1	4456	871	31	1		1	DEPDC1B	5	59940639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1428948	59940639	120974621	6185	16502											
ELOVL7	79993	broad.mit.edu	37	chr5	60053435	60053435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatacatgactacatgtacAgctgtatttagaagggcatg	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000508821.1	-	8	851	c.537T>C	c.(535-537)gcT>gcC	p.A179A	ELOVL7_ENST00000425382.1_Silent_p.A179A|ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000505959.1_Silent_p.A166A	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	179					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(496-498)gcT>gcC		ELOVL fatty acid elongase 7							80	79	79					5																	60053435		2203	4300	6503	SO:0001819	synonymous_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053435A>G	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.537T>C	5.37:g.60053435A>G						ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000508821.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_Silent_p.A179A	p.A166A			A1L3X0	ELOV7_HUMAN			10	1024	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	179					Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	c.498T>C	CCDS34164.1																																																																																				0.383	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			58	233	0	0	0	1	0	58	233					G	60053435	A	G	60053435	2	3	79	1	0	0	0	0	0	0	0	1	5097	175	7	4		4	ELOVL7	5	60053435	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112796	60053435	120861825	6186	16503											
HTR1A	3350	broad.mit.edu	37	chr5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagccaattgattatgGcgcccaacagggtgggcatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATTGATTATGGCGCCCAACAG	0.507																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1147-1149)gCc>gTc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						158	166	163					5																	63256399		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256399G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1148C>T	5.37:g.63256399G>A	ENSP00000316244:p.Ala383Val					RP11-158J3.2_ENST00000502882.1_RNA	p.A383V	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1381	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	383					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1148C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782245	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.36157	1.27	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.114707	0.64402	D	0.000018	T	0.45776	0.1359	L	0.43152	1.355	0.51233	D	0.999912	P	0.51537	0.946	P	0.55667	0.781	T	0.31308	-0.9948	10	0.54805	T	0.06	.	13.7557	0.62935	0.0:0.0:0.8465:0.1535	.	383	P08908	5HT1A_HUMAN	V	383	ENSP00000316244:A383V	ENSP00000316244:A383V	A	-	2	0	HTR1A	63292155	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.390000	0.44416	2.692000	0.91855	0.655000	0.94253	GCC		0.507	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		208	1064	0	0	0	1	0	208	1064					A	63256399	G	A	63256399	3	1	79	1	0	0	0	0	1	0	0	0	7466	1203	42	2	123	2	HTR1A	5	63256399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202964	63256399	117658861	6187	16504											
HTR1A	3350	broad.mit.edu	37	chr5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccagttcctgctccccGactctccattcacactcttc	4	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCTCCCCGACTCTCCATT	0.657																																						ENST00000323865.3																			1	Substitution - Missense(1)	p.S258L(1)	lung(1)	cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(772-774)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						58	56	57					5																	63256774		2203	4299	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256774G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.773C>T	5.37:g.63256774G>A	ENSP00000316244:p.Ser258Leu					RP11-158J3.2_ENST00000502882.1_RNA	p.S258L	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1006	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	258					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.773C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912302	0.02415	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.421461	0.25566	N	0.029793	T	0.42154	0.1190	N	0.25245	0.725	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.26408	T	0.33	.	7.3854	0.26880	0.1445:0.0:0.72:0.1355	.	258	P08908	5HT1A_HUMAN	L	258	ENSP00000316244:S258L	ENSP00000316244:S258L	S	-	2	0	HTR1A	63292530	0.553000	0.26513	0.001000	0.08648	0.010000	0.07245	2.917000	0.48821	0.349000	0.23975	0.655000	0.94253	TCG		0.657	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		107	463	0	0	0	1	0	107	463					A	63256774	G	A	63256774	3	1	79	1	0	0	0	0	1	0	0	0	7466	1059	37	1	498	1	HTR1A	5	63256774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375	63256774	117658486	6188	16505											
CWC27	10283	broad.mit.edu	37	chr5	64081400	64081400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacacaaaataaaaagCtgtgaggtaggagcatgatt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000381070.3	+	5	706	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000508024.1_Silent_p.S163S	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(487-489)agC>agT		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							130	120	123					5																	64081400		2203	4300	6503	SO:0001819	synonymous_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081400C>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.489C>T	5.37:g.64081400C>T						CWC27_ENST00000381070.3_Silent_p.S163S	p.S163S			Q6UX04	CWC27_HUMAN			5	690	+			163			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	c.489C>T	CCDS3982.2																																																																																				0.343	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		80	340	0	0	0	1	0	80	340					T	64081400	C	T	64081400	2	4	79	1	0	0	0	0	0	0	0	1	4081	796	28	2		2	CWC27	5	64081400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824626	64081400	116833860	6189	16506											
CWC27	10283	broad.mit.edu	37	chr5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttcatttggagaggaaGctgaggaagaagaggaggaa	15	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000381070.3	+	7	848	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000508024.1_Missense_Mutation_p.A211T	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	211					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(631-633)Gct>Act		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							103	105	104					5																	64084809		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64084809G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.631G>A	5.37:g.64084809G>A	ENSP00000370460:p.Ala211Thr					CWC27_ENST00000381070.3_Missense_Mutation_p.A211T	p.A211T			Q6UX04	CWC27_HUMAN			7	832	+			211					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.631G>A	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	34	5.336438	0.95758	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26660	1.72;1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.973;0.998;0.996	T	0.52503	-0.8567	10	0.51188	T	0.08	.	18.3774	0.90440	0.0:0.0:1.0:0.0	.	211;211;211;211	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	T	211	ENSP00000370460:A211T;ENSP00000426802:A211T	ENSP00000370460:A211T	A	+	1	0	CWC27	64120565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	2.736000	0.93811	0.591000	0.81541	GCT		0.308	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		44	255	0	0	0	1	0	44	255					A	64084809	G	A	64084809	3	1	79	1	0	0	0	0	1	0	0	0	4081	971	34	2	657	2	CWC27	5	64084809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3409	64084809	116830451	6190	16507											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766794	64766794	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaagtgcttgccataGgctgaaagtttaaaaaataa	9	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	91						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTTGCCATAGGCTGAAAGTT	0.393																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(271-273)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							115	115	115					5																	64766794		2203	4300	6503	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766794G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.273C>A	5.37:g.64766794G>T							p.A91A			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	1086	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	91					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.273C>A																																																																																					0.393	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		79	329	1	0	1.15773e-35	1	1.38295e-35	79	329					T	64766794	G	T	64766794	2	4	79	1	0	0	0	0	0	0	0	1	270	987	35	3		3	ADAMTS6	5	64766794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	681985	64766794	116148466	6191	16508											
PPWD1	23398	broad.mit.edu	37	chr5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttacatgcatagagatgTtatcacccatgtggtatgca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	92					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATAGAGATGTTATCACCCAT	0.328																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(274-276)gTt>gGt		peptidylprolyl isomerase domain and WD repeat containing 1							111	112	112					5																	64863418		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64863418T>G	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.275T>G	5.37:g.64863418T>G	ENSP00000261308:p.Val92Gly					PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G	p.V92G	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	2	347	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	92					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.275T>G	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227554	0.79576	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000505380	T;T;T	0.62364	0.03;0.03;0.31	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054812	0.64402	D	0.000001	T	0.80449	0.4625	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.66716	0.878;0.946	T	0.81138	-0.1069	10	0.33940	T	0.23	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	62;92	F5H7P7;Q96BP3	.;PPWD1_HUMAN	G	92;62;11	ENSP00000261308:V92G;ENSP00000442371:V62G;ENSP00000423234:V11G	ENSP00000261308:V92G	V	+	2	0	PPWD1	64899174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	2.151000	0.67156	0.533000	0.62120	GTT		0.328	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		43	206	0	0	0	1	0	43	206					G	64863418	T	G	64863418	3	3	79	1	0	0	0	0	1	0	0	0	12461	1725	60	4	281	4	PPWD1	5	64863418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96624	64863418	116051842	6192	16509											
NLN	57486	broad.mit.edu	37	chr5	65084251	65084251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagagtgttacactttataCtgtgaaggataaagctacag	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65084251C>A	ENST00000380985.5	+	8	1443	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	NLN_ENST00000502464.1_Missense_Mutation_p.T318N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	422						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ACACTTTATACTGTGAAGGAT	0.433																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1264-1266)aCt>aAt		neurolysin (metallopeptidase M3 family)							188	188	188					5																	65084251		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65084251C>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1265C>A	5.37:g.65084251C>A	ENSP00000370372:p.Thr422Asn					NLN_ENST00000502464.1_Missense_Mutation_p.T318N	p.T422N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	8	1443	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	422					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.1265C>A	CCDS3989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865090|2.865090	0.51482|0.51482	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.10573|.	2.86;2.86;2.86|.	6.07|6.07	4.25|4.25	0.50352|0.50352	Metallopeptidase, catalytic domain (1);|.	0.227351|.	0.46758|.	N|.	0.000270|.	T|.	0.33673|.	0.0871|.	N|N	0.04820|0.04820	-0.15|-0.15	0.46185|0.46185	D|D	0.998912|0.998912	B;B;B|.	0.21753|.	0.06;0.002;0.026|.	B;B;B|.	0.23150|.	0.042;0.017;0.044|.	T|.	0.15321|.	-1.0441|.	10|.	0.37606|.	T|.	0.19|.	-9.5094|-9.5094	11.6743|11.6743	0.51422|0.51422	0.1232:0.8122:0.0:0.0646|0.1232:0.8122:0.0:0.0646	.|.	117;422;422|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|X	422;318;422;150|18	ENSP00000370372:T422N;ENSP00000423214:T318N;ENSP00000427417:T150N|.	ENSP00000339283:T422N|.	T|Y	+|+	2|3	0|2	NLN|NLN	65120007|65120007	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.769000|3.769000	0.55303|0.55303	1.535000|1.535000	0.49220|0.49220	0.655000|0.655000	0.94253|0.94253	ACT|TAC		0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			27	1293	1	0	1.2644e-06	1	1.30616e-06	27	1293					A	65084251	C	A	65084251	3	1	79	1	0	0	0	0	1	0	0	0	10509	565	20	3	1295	3	NLN	5	65084251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220833	65084251	115831009	6193	16510											
ERBB2IP	55914	broad.mit.edu	37	chr5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttcctacagattaaaGaatttaccctttagctttac	3	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000284037.5	+	14	1532	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	381					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)			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)		ACAGATTAAAGAATTTACCCT	0.303																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1141-1143)aaG>aaT		erbb2 interacting protein							64	65	65					5																	65324108		2202	4299	6501	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.chr5:65324108G>T		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.1143G>T	5.37:g.65324108G>T	ENSP00000284037:p.Lys381Asn					ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N	p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	14	1532	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	381					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1143G>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119212	0.56505	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;2.32;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.65	3.78	0.43462	.	0.134464	0.64402	D	0.000002	T	0.60117	0.2244	N	0.20357	0.565	0.44890	D	0.997901	P;P;P;P;D;D;P;D	0.89917	0.624;0.915;0.627;0.931;1.0;0.991;0.593;1.0	B;P;B;P;D;P;B;D	0.91635	0.42;0.763;0.348;0.848;0.999;0.864;0.295;0.997	T	0.62025	-0.6941	10	0.72032	D	0.01	.	10.39	0.44162	0.221:0.0:0.779:0.0	.	381;381;381;381;381;381;381;381	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	381	ENSP00000284037:K381N;ENSP00000370330:K381N;ENSP00000397833:K381N;ENSP00000370326:K381N;ENSP00000370323:K381N;ENSP00000370322:K381N;ENSP00000370325:K381N;ENSP00000422766:K381N;ENSP00000426632:K381N;ENSP00000422015:K381N	ENSP00000284037:K381N	K	+	3	2	ERBB2IP	65359864	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	0.662000	0.31006	-0.244000	0.11960	AAG		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		17	141	1	0	5.3912e-06	1	5.54037e-06	17	141					T	65324108	G	T	65324108	3	4	79	1	0	0	0	0	1	0	0	0	5225	933	33	3	1189	3	ERBB2IP	5	65324108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239857	65324108	115591152	6194	16511											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagaactatgtcagttAgtgatttcaattattcacgg	9	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000284037.5	+	21	3867	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1160					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)			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)		TATGTCAGTTAGTGATTTCAA	0.403																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3478-3480)Agt>Cgt		erbb2 interacting protein							63	60	61					5																	65350624		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.chr5:65350624A>C		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.3478A>C	5.37:g.65350624A>C	ENSP00000284037:p.Ser1160Arg					ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron	p.S1160R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3867	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1160					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3478A>C	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.82|16.82	3.227621|3.227621	0.58668|0.58668	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.91;0.9;0.91;0.97;0.55;0.88;0.89;0.8;0.55|.	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	0.229431|.	0.51477|.	D|.	0.000089|.	T|.	0.54743|.	0.1877|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D|.	0.69078|.	0.997;0.987;0.977;0.96;0.966;0.997;0.987|.	D;P;P;P;P;D;P|.	0.69479|.	0.964;0.878;0.905;0.762;0.641;0.964;0.88|.	T|.	0.48163|.	-0.9059|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0592|8.0592	0.30623|0.30623	0.7924:0.1371:0.0705:0.0|0.7924:0.1371:0.0705:0.0	.|.	1160;1160;1160;1156;1160;1160;1160|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	R|S	1160;1160;1160;1160;1160;1160;1156;1160;1160|55	ENSP00000284037:S1160R;ENSP00000370330:S1160R;ENSP00000370326:S1160R;ENSP00000370323:S1160R;ENSP00000370322:S1160R;ENSP00000370325:S1160R;ENSP00000422766:S1156R;ENSP00000426632:S1160R;ENSP00000422015:S1160R|.	ENSP00000284037:S1160R|.	S|X	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386380|65386380	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	AGT|TAG		0.403	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		61	227	0	0	0	1	0	61	227					C	65350624	A	C	65350624	3	2	79	1	0	0	0	0	1	0	0	0	5225	420	15	4	3552	4	ERBB2IP	5	65350624	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26516	65350624	115564636	6195	16512											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371060	65371060	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactggcaaaacaagaggTaagaataatcaagactattt	8	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						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)			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)		AAACAAGAGGTAAGAATAATC	0.348																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.e23+2		erbb2 interacting protein							68	69	69					5																	65371060		2203	4300	6503	SO:0001630	splice_region_variant	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.chr5:65371060T>C		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.3963+2T>C	5.37:g.65371060T>C						ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site		NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4352	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)						A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37		CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405358	0.62288	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030	.	.	.	5.57	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0104	0.53284	0.1291:0.0:0.0:0.8709	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.113000	0.64589	0.528000	0.53228	.		0.348	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Intron	91	371	0	0	0	1	0	91	371					C	65371060	T	C	65371060	5	2	79	1	0	0	0	0	0	0	1	0	5225	1652	57	4	3920	4	ERBB2IP	5	65371060	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20436	65371060	115544200	6196	16513											
SFRS12	140890	broad.mit.edu	37	chr5	65474603	65474603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagaagtagatgacaaGgatgcaccaaggactgagga	13	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65474603G>A	ENST00000380918.3	+	13	2094	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Silent_p.K594K	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	478					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGATGACAAGGATGCACCAA	0.383																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1780-1782)aaG>aaA		splicing regulatory glutamine/lysine-rich protein 1							145	127	133					5																	65474603		2203	4300	6503	SO:0001819	synonymous_variant	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65474603G>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1434G>A	5.37:g.65474603G>A						SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.K478K	p.K594K	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			12	1941	+			478					A4FTW3|Q2M1J0|Q86X37	Silent	SNP	ENST00000380918.3	37	c.1782G>A	CCDS3991.1																																																																																				0.383	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		65	278	0	0	0	1	0	65	278					A	65474603	G	A	65474603	2	1	79	1	0	0	0	0	0	0	0	1	14217	991	35	2		2	SFRS12	5	65474603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103543	65474603	115440657	6197	16514											
MAST4	375449	broad.mit.edu	37	chr5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccaaacccggtggCgggacaggcctggccggcct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000403625.2	+	3	840	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	182						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(544-546)gCg>gTg		microtubule associated serine/threonine kinase family member 4							43	45	44					5																	66084525		1880	4108	5988	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084525C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.545C>T	5.37:g.66084525C>T	ENSP00000385727:p.Ala182Val					MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000403625.2_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V	p.A182V			O15021	MAST4_HUMAN		Lung(70;0.011)	3	853	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	182					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.545C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513808|4.513808	0.85389|0.85389	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817|ENST00000452953	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;1.47;1.48;0.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.452872|.	0.18800|.	N|.	0.130812|.	T|T	0.39759|0.39759	0.1090|0.1090	L|L	0.27053|0.27053	0.805|0.805	0.22666|0.22666	N|N	0.998873|0.998873	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.56648|.	0.803;0.481|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.66056|.	D|.	0.02|.	.|.	15.9813|15.9813	0.80111|0.80111	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	182;182|.	E7EX28;O15021-4|.	.;.|.	V|W	182;182;182;182;54|55	ENSP00000385048:A182V;ENSP00000385727:A182V;ENSP00000385088:A182V;ENSP00000384547:A182V;ENSP00000413573:A54V|.	ENSP00000385727:A182V|.	A|R	+|+	2|1	0|2	MAST4|MAST4	66120281|66120281	0.494000|0.494000	0.26043|0.26043	0.021000|0.021000	0.16686|0.16686	0.722000|0.722000	0.41435|0.41435	2.684000|2.684000	0.46951|0.46951	2.677000|2.677000	0.91161|0.91161	0.557000|0.557000	0.71058|0.71058	GCG|CGG		0.627	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			43	241	0	0	0	1	0	43	241					T	66084525	C	T	66084525	3	4	79	1	0	0	0	0	1	0	0	0	9368	768	27	1	555	1	MAST4	5	66084525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	609922	66084525	114830735	6198	16515											
MAST4	375449	broad.mit.edu	37	chr5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacgtccaacctcgtgCgcatgcgcagccaggccctg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000403625.2	+	3	884	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	197						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(589-591)Cgc>Tgc		microtubule associated serine/threonine kinase family member 4							30	31	31					5																	66084569		1887	4111	5998	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084569C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.589C>T	5.37:g.66084569C>T	ENSP00000385727:p.Arg197Cys					MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000403625.2_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C	p.R197C			O15021	MAST4_HUMAN		Lung(70;0.011)	3	897	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	197					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.589C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553642	0.96501	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.80304	-1.33;-1.36;-0.16;-0.03;-0.42	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89019	0.6596	M	0.62723	1.935	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89396	0.3692	10	0.87932	D	0	.	19.3639	0.94454	0.0:1.0:0.0:0.0	.	197;197	E7EX28;O15021-4	.;.	C	197;197;197;197;69;4	ENSP00000385048:R197C;ENSP00000385727:R197C;ENSP00000385088:R197C;ENSP00000384547:R197C;ENSP00000413573:R69C	ENSP00000385727:R197C	R	+	1	0	MAST4	66120325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.677000	0.91161	0.557000	0.71058	CGC		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			33	187	0	0	0	1	0	33	187					T	66084569	C	T	66084569	3	4	79	1	0	0	0	0	1	0	0	0	9368	768	27	1	599	1	MAST4	5	66084569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	66084569	114830691	6199	16516											
MAST4	375449	broad.mit.edu	37	chr5	66432472	66432472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactcctcaggcagaatcCcctggagaggctgggaacag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	ENST00000403625.2	+	19	2769	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	MAST4_ENST00000403666.1_Missense_Mutation_p.P636L|MAST4_ENST00000404260.3_Missense_Mutation_p.P828L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	828	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGAATCCCCTGGAGAGG	0.458																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2482-2484)cCc>cTc		microtubule associated serine/threonine kinase family member 4							47	46	47					5																	66432472		1861	4101	5962	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66432472C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2474C>T	5.37:g.66432472C>T	ENSP00000385727:p.Pro825Leu					MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000403625.2_Missense_Mutation_p.P825L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L|MAST4_ENST00000403666.1_Missense_Mutation_p.P636L	p.P828L			O15021	MAST4_HUMAN		Lung(70;0.011)	19	2791	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	828			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.2483C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361532	0.95877	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.81	5.81	0.92471	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	0.73713	0.3622	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.99;0.999;0.997;0.986	T	0.81395	-0.0952	10	0.87932	D	0	-25.2234	20.0784	0.97758	0.0:1.0:0.0:0.0	.	646;828;631;636	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	L	828;825;636;646;646;631;631	ENSP00000385048:P828L;ENSP00000385727:P825L;ENSP00000384313:P636L;ENSP00000384099:P646L;ENSP00000261569:P631L	ENSP00000261569:P631L	P	+	2	0	MAST4	66468228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.736000	0.93811	0.655000	0.94253	CCC		0.458	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			8	47	0	0	0	1	0	8	47					T	66432472	C	T	66432472	3	4	79	1	0	0	0	0	1	0	0	0	9368	623	22	2	2678	2	MAST4	5	66432472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347903	66432472	114482788	6200	16517											
MAST4	375449	broad.mit.edu	37	chr5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggacccttcttcttcaCgagattcctctcccagccga	6	18	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000403625.2	+	25	3662	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1126	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3376-3378)Cga>Tga		microtubule associated serine/threonine kinase family member 4							132	131	131					5																	66448536		1936	4150	6086	SO:0001587	stop_gained	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66448536C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3367C>T	5.37:g.66448536C>T	ENSP00000385727:p.Arg1123*					MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.R1123*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*	p.R1126*			O15021	MAST4_HUMAN		Lung(70;0.011)	25	3684	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1126			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	37	c.3376C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.794146|8.794146	0.98956|0.98956	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	.|.	.|.	.|.	6.17|6.17	3.31|3.31	0.37934|0.37934	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69984	.|0.3172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72947	.|-0.4137	.|3	0.02654|.	T|.	1|.	-14.7051|-14.7051	15.8853|15.8853	0.79244|0.79244	0.6069:0.3931:0.0:0.0|0.6069:0.3931:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1126;1123;934;944;944;929;862|179	.|.	ENSP00000261569:R929X|.	R|T	+|+	1|2	2|0	MAST4|MAST4	66484292|66484292	0.660000|0.660000	0.27420|0.27420	0.775000|0.775000	0.31657|0.31657	0.995000|0.995000	0.86356|0.86356	1.386000|1.386000	0.34419|0.34419	0.400000|0.400000	0.25396|0.25396	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.522	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			128	624	0	0	0	1	0	128	624					T	66448536	C	T	66448536	4	4	79	1	0	0	0	0	0	1	0	0	9368	528	19	1	3595	1	MAST4	5	66448536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16064	66448536	114466724	6201	16518											
MAST4	375449	broad.mit.edu	37	chr5	66459843	66459843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcacaagcaggccagCgtgcgcgccagcgagggtgc	15	14	2	0	rs200132752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	ENST00000403625.2	+	29	5131	c.4836C>T	c.(4834-4836)agC>agT	p.S1612S	MAST4_ENST00000403666.1_Silent_p.S1423S|MAST4_ENST00000404260.3_Silent_p.S1615S|MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000261569.7_Silent_p.S1418S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1615						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGCCAGCGTGCGCGCCA	0.657																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4843-4845)agC>agT		microtubule associated serine/threonine kinase family member 4							13	14	14					5																	66459843		1993	4147	6140	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459843C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4836C>T	5.37:g.66459843C>T						MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000403625.2_Silent_p.S1612S|MAST4_ENST00000261569.7_Silent_p.S1418S|MAST4_ENST00000403666.1_Silent_p.S1423S	p.S1615S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5153	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1615					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.4845C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058585	0.08339	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.95	-0.0499	0.13833	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	-8.4791	9.1415	0.36906	0.0:0.5281:0.0:0.4719	.	.	.	.	C	669	.	.	R	+	1	0	MAST4	66495599	0.001000	0.12720	0.036000	0.18154	0.503000	0.33858	-0.134000	0.10436	-0.224000	0.09928	0.561000	0.74099	CGT		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			11	59	0	0	0	1	0	11	59					T	66459843	C	T	66459843	2	4	79	1	0	0	0	0	0	0	0	1	9368	767	27	1		1	MAST4	5	66459843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11307	66459843	114455417	6202	16519											
MAST4	375449	broad.mit.edu	37	chr5	66460375	66460375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccctccgagtataagCtggaaggtaggtctgtctca	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000403625.2	+	29	5663	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_ENST00000403666.1_Silent_p.L1601L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000261569.7_Silent_p.L1596L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1793						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5377-5379)Ctg>Ttg		microtubule associated serine/threonine kinase family member 4							96	101	99					5																	66460375		1911	4132	6043	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460375C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5368C>T	5.37:g.66460375C>T						MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000403625.2_Silent_p.L1790L|MAST4_ENST00000261569.7_Silent_p.L1596L|MAST4_ENST00000403666.1_Silent_p.L1601L	p.L1793L			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5685	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1793					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5377C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927128	0.18056	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.48	0.39840	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-14.6127	11.4824	0.50333	0.0:0.8561:0.0:0.1439	.	.	.	.	V	846	.	.	A	+	2	0	MAST4	66496131	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.782000	0.47758	0.785000	0.33685	-0.136000	0.14681	GCT		0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			87	428	0	0	0	1	0	87	428					T	66460375	C	T	66460375	2	4	79	1	0	0	0	0	0	0	0	1	9368	796	28	2		2	MAST4	5	66460375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	66460375	114454885	6203	16520											
MAST4	375449	broad.mit.edu	37	chr5	66461256	66461256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcgtggaacccaagccCgaagcgcttcttgccaggcg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000403625.2	+	29	6544	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_ENST00000403666.1_Silent_p.P1894P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000261569.7_Silent_p.P1889P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2086						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6256-6258)ccC>ccT		microtubule associated serine/threonine kinase family member 4							44	52	49					5																	66461256		1983	4147	6130	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461256C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6249C>T	5.37:g.66461256C>T						MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000403625.2_Silent_p.P2083P|MAST4_ENST00000261569.7_Silent_p.P1889P|MAST4_ENST00000403666.1_Silent_p.P1894P	p.P2086P			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6566	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2086					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6258C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.160941	0.09287	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0454	7.8471	0.29431	0.0:0.2763:0.3432:0.3804	.	.	.	.	X	1140	.	.	R	+	1	2	MAST4	66497012	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.217000	0.00553	-1.397000	0.02068	-1.000000	0.02509	CGA		0.582	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			60	255	0	0	0	1	0	60	255					T	66461256	C	T	66461256	2	4	79	1	0	0	0	0	0	0	0	1	9368	639	23	1		1	MAST4	5	66461256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881	66461256	114454004	6204	16521											
MAST4	375449	broad.mit.edu	37	chr5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagactaagcaccccgacCggtccctctcctctcagaaa	6	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000403625.2	+	29	6923	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2213	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6637-6639)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							13	17	16					5																	66461635		1858	4102	5960	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461635C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6628C>T	5.37:g.66461635C>T	ENSP00000385727:p.Arg2210Trp					MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2210W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W	p.R2213W			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6945	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2213					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6637C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.813212|1.813212	0.32053|0.32053	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.71222	.|-0.53;-0.53;-0.55;-0.55;-0.53	4.86|4.86	1.07|1.07	0.20283|0.20283	.|.	.|0.211736	.|0.32901	.|N	.|0.005507	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;P	.|0.59546	.|0.803;0.859	T|T	0.65557|0.65557	-0.6139|-0.6139	5|10	.|0.72032	.|D	.|0.01	-14.3162|-14.3162	11.8586|11.8586	0.52453|0.52453	0.5134:0.4866:0.0:0.0|0.5134:0.4866:0.0:0.0	.|.	.|2213;2021	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|W	1266|2213;2210;2021;2031;2031;2016	.|ENSP00000385048:R2213W;ENSP00000385727:R2210W;ENSP00000384313:R2021W;ENSP00000384099:R2031W;ENSP00000261569:R2016W	.|ENSP00000261569:R2016W	P|R	+|+	2|1	0|2	MAST4|MAST4	66497391|66497391	0.096000|0.096000	0.21769|0.21769	0.586000|0.586000	0.28679|0.28679	0.010000|0.010000	0.07245|0.07245	0.580000|0.580000	0.23803|0.23803	0.034000|0.034000	0.15491|0.15491	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			18	98	0	0	0	1	0	18	98					T	66461635	C	T	66461635	3	4	79	1	0	0	0	0	1	0	0	0	9368	643	23	1	6872	1	MAST4	5	66461635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	66461635	114453625	6205	16522											
MAST4	375449	broad.mit.edu	37	chr5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgccaaggccgggacacCcagggcctagtgagccagcg	14	13	0	1	rs371350803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000403625.2	+	29	7223	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2313						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6937-6939)Cca>Tca		microtubule associated serine/threonine kinase family member 4							22	28	26					5																	66461935		1943	4128	6071	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461935C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6928C>T	5.37:g.66461935C>T	ENSP00000385727:p.Pro2310Ser		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2310S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S	p.P2313S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	7245	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2313					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6937C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318213|1.318213	0.23994|0.23994	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64991	.|-0.1;-0.1;-0.13;-0.12;-0.1	4.62|4.62	2.66|2.66	0.31614|0.31614	.|.	0.910882|0.910882	0.09254|0.09254	N|N	0.827460|0.827460	T|T	0.41166|0.41166	0.1147|0.1147	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25272	.|0.075;0.122	.|B;B	.|0.25291	.|0.027;0.059	T|T	0.29671|0.29671	-1.0004|-1.0004	6|10	.|0.15066	.|T	.|0.55	0.1795|0.1795	2.4979|2.4979	0.04626|0.04626	0.2633:0.4739:0.1624:0.1004|0.2633:0.4739:0.1624:0.1004	.|.	.|2313;2121	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|S	1366|2313;2310;2121;2131;2131;2116	.|ENSP00000385048:P2313S;ENSP00000385727:P2310S;ENSP00000384313:P2121S;ENSP00000384099:P2131S;ENSP00000261569:P2116S	.|ENSP00000261569:P2116S	P|P	+|+	2|1	0|0	MAST4|MAST4	66497691|66497691	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.026000|0.026000	0.11368|0.11368	0.269000|0.269000	0.18589|0.18589	1.159000|1.159000	0.42565|0.42565	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			20	58	0	0	0	1	0	20	58					T	66461935	C	T	66461935	3	4	79	1	0	0	0	0	1	0	0	0	9368	623	22	2	7172	2	MAST4	5	66461935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	66461935	114453325	6206	16523											
MAST4	375449	broad.mit.edu	37	chr5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtggtacggcagaggCgggggaaagagagtttgcgt	18	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000403625.2	+	29	8120	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7834-7836)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							18	19	19					5																	66462832		1911	4098	6009	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462832C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7825C>T	5.37:g.66462832C>T	ENSP00000385727:p.Arg2609Trp					MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2609W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W	p.R2612W			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8142	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2612					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7834C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335850|4.335850	0.81801|0.81801	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.74632	.|-0.85;-0.85;-0.86;-0.86;-0.83	5.49|5.49	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.48286	.|D	.|0.000196	T|T	0.77870|0.77870	0.4195|0.4195	L|L	0.34521|0.34521	1.04|1.04	0.32490|0.32490	N|N	0.540319|0.540319	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.981;0.984	T|T	0.82303|0.82303	-0.0524|-0.0524	5|10	.|0.87932	.|D	.|0	-19.1121|-19.1121	11.8895|11.8895	0.52620|0.52620	0.1412:0.7306:0.1282:0.0|0.1412:0.7306:0.1282:0.0	.|.	.|2612;2420	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|W	1665|2612;2609;2420;2430;2430;2415	.|ENSP00000385048:R2612W;ENSP00000385727:R2609W;ENSP00000384313:R2420W;ENSP00000384099:R2430W;ENSP00000261569:R2415W	.|ENSP00000261569:R2415W	A|R	+|+	2|1	0|2	MAST4|MAST4	66498588|66498588	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.195000|1.195000	0.32186|0.32186	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	109	0	0	0	1	0	12	109					T	66462832	C	T	66462832	3	4	79	1	0	0	0	0	1	0	0	0	9368	759	27	1	8069	1	MAST4	5	66462832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	66462832	114452428	6207	16524											
PIK3R1	5295	broad.mit.edu	37	chr5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctatctcctggacttaCcaaatcctgtcattccagca	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	194	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CCTGGACTTACCAAATCCTGT	0.413			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(580-582)Cca>Tca		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						157	144	149					5																	67575507		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575507C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.580C>T	5.37:g.67575507C>T	ENSP00000428056:p.Pro194Ser	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S	p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1196	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	194			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.580C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883408	0.91740	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.68317	2.08	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.64820	-0.6317	10	0.66056	D	0.02	-12.4678	19.6101	0.95602	0.0:1.0:0.0:0.0	.	194	P27986	P85A_HUMAN	S	194;194;194;194;96	ENSP00000428056:P194S;ENSP00000429277:P194S;ENSP00000379855:P194S;ENSP00000274335:P194S;ENSP00000428566:P96S	ENSP00000274335:P194S	P	+	1	0	PIK3R1	67611263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.868000	0.98415	0.557000	0.71058	CCA		0.413	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		104	456	0	0	0	1	0	104	456					T	67575507	C	T	67575507	3	4	79	1	0	0	0	0	1	0	0	0	11960	507	18	2	594	2	PIK3R1	5	67575507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1112675	67575507	113339753	6208	16525											
MRPS36	92259	broad.mit.edu	37	chr5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcagtatcagaagctttgaGatcagcagggctaccatctc	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	41					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(121-123)aGa>aTa		mitochondrial ribosomal protein S36							50	53	52					5																	68524042		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524042G>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.122G>T	5.37:g.68524042G>T	ENSP00000256441:p.Arg41Ile					MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.R41I	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	192	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	41					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.122G>T	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927759	0.52759	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.49	4.43	0.53597	.	0.250556	0.36854	N	0.002374	T	0.42607	0.1210	L	0.29908	0.895	0.53688	D	0.999973	P	0.36249	0.545	B	0.41988	0.372	T	0.42327	-0.9458	9	0.62326	D	0.03	-2.6775	7.3681	0.26785	0.2318:0.0:0.7682:0.0	.	41	P82909	RT36_HUMAN	I	41	.	ENSP00000256441:R41I	R	+	2	0	MRPS36	68559798	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.502000	0.45398	2.575000	0.86900	0.460000	0.39030	AGA		0.338	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		43	229	1	0	6.45866e-13	1	6.95527e-13	43	229					T	68524042	G	T	68524042	3	4	79	1	0	0	0	0	1	0	0	0	9886	942	33	3	132	3	MRPS36	5	68524042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948535	68524042	112391218	6209	16526											
MRPS36	92259	broad.mit.edu	37	chr5	68524106	68524106	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggaagtaaatcaccAgatttgctgatgtatcaggg	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	62					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(184-186)ccA>ccG		mitochondrial ribosomal protein S36							86	92	90					5																	68524106		2203	4300	6503	SO:0001819	synonymous_variant	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524106A>G		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.186A>G	5.37:g.68524106A>G						MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.P62P	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	256	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	62					Q9H2H4	Silent	SNP	ENST00000256441.4	37	c.186A>G	CCDS34174.1																																																																																				0.353	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		84	352	0	0	0	1	0	84	352					G	68524106	A	G	68524106	2	3	79	1	0	0	0	0	0	0	0	1	9886	175	7	4		4	MRPS36	5	68524106	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	68524106	112391154	6210	16527											
CDK7	1022	broad.mit.edu	37	chr5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggaaaccttaaaggagCaatcaaatccagctttggca	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000256443.3	+	11	1061	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	CDK7_ENST00000502604.1_Nonsense_Mutation_p.Q227*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	320					7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.(679-681)Caa>Taa	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							70	72	71					5																	68572463		2203	4300	6503	SO:0001587	stop_gained	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68572463C>T		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.958C>T	5.37:g.68572463C>T	ENSP00000256443:p.Gln320*					CDK7_ENST00000256443.3_Nonsense_Mutation_p.Q320*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	p.Q227*			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	10	1169	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	320			Protein kinase.		Q9BS60|Q9UE19	Nonsense_Mutation	SNP	ENST00000256443.3	37	c.679C>T	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216077	0.95104	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	.	.	.	5.3	4.42	0.53409	.	0.303860	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.6503	0.56757	0.0:0.9178:0.0:0.0822	.	.	.	.	X	320;283;227	.	ENSP00000256443:Q320X	Q	+	1	0	CDK7	68608219	0.942000	0.31987	0.776000	0.31678	0.294000	0.27393	2.565000	0.45939	2.636000	0.89361	0.655000	0.94253	CAA		0.388	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		48	251	0	0	0	1	0	48	251					T	68572463	C	T	68572463	4	4	79	1	0	0	0	0	0	1	0	0	3158	711	25	2	1000	2	CDK7	5	68572463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48357	68572463	112342797	6211	16528											
BDP1	55814	broad.mit.edu	37	chr5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttctaaaggagaaaaAcacaagagtaagtttcttac	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	495					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGAGAAAAACACAAGAGTA	0.348																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1483-1485)aaA>aaC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							55	54	54					5																	70785502		1829	4072	5901	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70785502A>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1485A>C	5.37:g.70785502A>C	ENSP00000351575:p.Lys495Asn					BDP1_ENST00000380675.2_5'UTR	p.K495N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	10	1748	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	495					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1485A>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240903	0.39598	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41758	0.99	5.26	-1.7	0.08159	.	0.086814	0.49305	D	0.000147	T	0.43897	0.1268	L	0.54323	1.7	0.35443	D	0.795076	B;D;D	0.69078	0.09;0.997;0.996	B;P;P	0.62184	0.027;0.899;0.866	T	0.51513	-0.8696	10	0.23891	T	0.37	.	4.4018	0.11390	0.3442:0.3507:0.3052:0.0	.	495;495;495	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	495;495;75;495	ENSP00000351575:K495N	ENSP00000351575:K495N	K	+	3	2	BDP1	70821258	0.015000	0.18098	0.323000	0.25347	0.328000	0.28507	-0.222000	0.09190	0.032000	0.15435	0.379000	0.24179	AAA		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		54	283	0	0	0	1	0	54	283					C	70785502	A	C	70785502	3	2	79	1	0	0	0	0	1	0	0	0	1396	40	2	4	1523	4	BDP1	5	70785502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2213039	70785502	110129758	6212	16529											
BDP1	55814	broad.mit.edu	37	chr5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaccaatgttgagaggtCgcttccaaagacctaaaccc	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	615					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAGGTCGCTTCCAAAG	0.358																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1843-1845)Cgc>Tgc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							86	81	83					5																	70793140		1829	4084	5913	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70793140C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1843C>T	5.37:g.70793140C>T	ENSP00000351575:p.Arg615Cys					BDP1_ENST00000380675.2_5'UTR	p.R615C	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	13	2106	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	615					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1843C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517347	0.13005	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.11385	2.78	5.05	4.18	0.49190	.	0.695259	0.14689	N	0.304260	T	0.12433	0.0302	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.015;0.009	B;B;B	0.15052	0.012;0.006;0.009	T	0.02844	-1.1103	10	0.51188	T	0.08	.	10.0523	0.42223	0.0:0.9053:0.0:0.0947	.	615;615;615	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	615;615;195;615	ENSP00000351575:R615C	ENSP00000351575:R615C	R	+	1	0	BDP1	70828896	0.997000	0.39634	0.928000	0.36995	0.031000	0.12232	2.288000	0.43514	1.270000	0.44297	-0.189000	0.12847	CGC		0.358	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		70	301	0	0	0	1	0	70	301					T	70793140	C	T	70793140	3	4	79	1	0	0	0	0	1	0	0	0	1396	884	31	1	1893	1	BDP1	5	70793140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7638	70793140	110122120	6213	16530											
BDP1	55814	broad.mit.edu	37	chr5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagaagacaccagaggtgAttgatgctactgaggaaata	14	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3085-3087)Att>Gtt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							74	75	75					5																	70806004		1848	4090	5938	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806004A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3085A>G	5.37:g.70806004A>G	ENSP00000351575:p.Ile1029Val					BDP1_ENST00000380675.2_5'UTR	p.I1029V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3348	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1029			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3085A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	BDP1	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT		0.463	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		95	420	0	0	0	1	0	95	420					G	70806004	A	G	70806004	3	3	79	1	0	0	0	0	1	0	0	0	1396	333	12	4	3151	4	BDP1	5	70806004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12864	70806004	110109256	6214	16531											
MCCC2	64087	broad.mit.edu	37	chr5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcttttgaggatttgctCgaatatttgggtacccagta	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	361	Acyl-CoA binding. {ECO:0000255}.|Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1081-1083)Cga>Tga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						150	161	157					5																	70939654		2203	4300	6503	SO:0001587	stop_gained	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70939654C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1081C>T	5.37:g.70939654C>T	ENSP00000343657:p.Arg361*					MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	p.R361*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	12	1210	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	361			Acyl-CoA binding (Potential).|Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Nonsense_Mutation	SNP	ENST00000340941.6	37	c.1081C>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686458	0.96784	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.65	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4798	11.3076	0.49345	0.5398:0.4602:0.0:0.0	.	.	.	.	X	361;323;133	.	ENSP00000327308:R323X	R	+	1	2	MCCC2	70975410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.808000	0.47963	1.163000	0.42636	0.650000	0.86243	CGA		0.338	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			112	522	0	0	0	1	0	112	522					T	70939654	C	T	70939654	4	4	79	1	0	0	0	0	0	1	0	0	9416	876	31	1	1127	1	MCCC2	5	70939654	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133650	70939654	109975606	6215	16532											
MCCC2	64087	broad.mit.edu	37	chr5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagtgctgatgaagCggctttaaaagagcccatca	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	503	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1507-1509)gCg>gTg		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						58	57	57					5																	70948515		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70948515C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1508C>T	5.37:g.70948515C>T	ENSP00000343657:p.Ala503Val					MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	p.A503V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	16	1637	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	503			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.1508C>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123269	0.56613	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-3.26;-3.26;-4.5	5.44	5.44	0.79542	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.107337	0.64402	D	0.000007	D	0.95968	0.8687	M	0.68317	2.08	0.58432	D	0.999997	B	0.31413	0.322	B	0.19391	0.025	D	0.94985	0.8129	10	0.62326	D	0.03	-14.0895	13.6461	0.62281	0.1555:0.8445:0.0:0.0	.	503	Q9HCC0	MCCB_HUMAN	V	503;465;275	ENSP00000343657:A503V;ENSP00000327308:A465V;ENSP00000425474:A275V	ENSP00000327308:A465V	A	+	2	0	MCCC2	70984271	0.999000	0.42202	0.978000	0.43139	0.977000	0.68977	3.682000	0.54656	2.556000	0.86216	0.491000	0.48974	GCG		0.443	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			24	152	0	0	0	1	0	24	152					T	70948515	C	T	70948515	3	4	79	1	0	0	0	0	1	0	0	0	9416	768	27	1	1570	1	MCCC2	5	70948515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8861	70948515	109966745	6216	16533											
CARTPT	9607	broad.mit.edu	37	chr5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagatcgaagcgctgcaaGaagtcttgaagaagctcaag	12	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	59					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537																																						ENST00000296777.4																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(175-177)Gaa>Aaa		CART prepropeptide	Amphetamine(DB00182)						144	130	135					5																	71015722		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015722G>A	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.175G>A	5.37:g.71015722G>A	ENSP00000296777:p.Glu59Lys					CARTPT_ENST00000513096.1_3'UTR	p.E59K	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	2	306	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	59					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.175G>A	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168013	0.94768	.	.	ENSG00000164326	ENST00000296777	T	0.58797	0.31	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74917	-0.3501	10	0.66056	D	0.02	.	17.1015	0.86651	0.0:0.0:1.0:0.0	.	59	Q16568	CART_HUMAN	K	59	ENSP00000296777:E59K	ENSP00000296777:E59K	E	+	1	0	CARTPT	71051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.966000	0.93397	2.340000	0.79590	0.655000	0.94253	GAA		0.537	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		69	335	0	0	0	1	0	69	335					A	71015722	G	A	71015722	3	1	79	1	0	0	0	0	1	0	0	0	2666	943	33	2	181	2	CARTPT	5	71015722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67207	71015722	109899538	6217	16534											
MAP1B	4131	broad.mit.edu	37	chr5	71490172	71490172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagcggaaaattgcagaGctcgaggaagaacagtccca	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	330					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(988-990)gaG>gaA		microtubule-associated protein 1B							61	56	58					5																	71490172		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490172G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.990G>A	5.37:g.71490172G>A							p.E330E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1288	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	330					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.990G>A	CCDS4012.1																																																																																				0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		63	277	0	0	0	1	0	63	277					A	71490172	G	A	71490172	2	1	79	1	0	0	0	0	0	0	0	1	9269	962	34	2		2	MAP1B	5	71490172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474450	71490172	109425088	6218	16535											
MAP1B	4131	broad.mit.edu	37	chr5	71490541	71490541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggctgaattcattctGcctaatggtcaagaagtaga	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	453					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1357-1359)ctG>ctA		microtubule-associated protein 1B							106	107	106					5																	71490541		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490541G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1359G>A	5.37:g.71490541G>A							p.L453L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1657	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	453					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.1359G>A	CCDS4012.1																																																																																				0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		79	390	0	0	0	1	0	79	390					A	71490541	G	A	71490541	2	1	79	1	0	0	0	0	0	0	0	1	9269	1306	46	2		2	MAP1B	5	71490541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369	71490541	109424719	6219	16536											
MAP1B	4131	broad.mit.edu	37	chr5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcaccaaaggtcctgccGagtcccctgatgagggaatc	11	12	1	2	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2668-2670)Gag>Aag		microtubule-associated protein 1B		G	LYS/GLU	0,4406		0,0,2203	106	109	108		2668	5.4	1	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	890/2469	71491850	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491850G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2668G>A	5.37:g.71491850G>A	ENSP00000296755:p.Glu890Lys						p.E890K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2966	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	890					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2668G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.267	T	0.01269	-1.1400	10	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	764;890	A2BDK6;P46821	.;MAP1B_HUMAN	K	890	ENSP00000296755:E890K	ENSP00000296755:E890K	E	+	1	0	MAP1B	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG		0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		142	627	0	0	0	1	0	142	627					A	71491850	G	A	71491850	3	1	79	1	0	0	0	0	1	0	0	0	9269	1059	37	1	2686	1	MAP1B	5	71491850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1309	71491850	109423410	6220	16537											
MAP1B	4131	broad.mit.edu	37	chr5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttggacatcaaagataGcatctcagctgtttcaagtg	8	9	3	1	rs370336362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1242					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3724-3726)aGc>aAc		microtubule-associated protein 1B							90	84	86					5																	71492907		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492907G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3725G>A	5.37:g.71492907G>A	ENSP00000296755:p.Ser1242Asn						p.S1242N	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4023	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1242					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3725G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477422	0.12521	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.42	2.52	0.30459	.	0.507002	0.19548	N	0.111629	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.46925	-0.9156	10	0.27785	T	0.31	-2.3124	5.2439	0.15487	0.215:0.4979:0.2178:0.0693	.	1116;1242	A2BDK6;P46821	.;MAP1B_HUMAN	N	1242	ENSP00000296755:S1242N	ENSP00000296755:S1242N	S	+	2	0	MAP1B	71528663	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	-0.428000	0.06991	0.680000	0.31366	-0.120000	0.15030	AGC		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		49	299	0	0	0	1	0	49	299					A	71492907	G	A	71492907	3	1	79	1	0	0	0	0	1	0	0	0	9269	971	34	2	3743	2	MAP1B	5	71492907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	71492907	109422353	6221	16538											
MAP1B	4131	broad.mit.edu	37	chr5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcactagaacccctcaGgcatccacatattcctacga	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2053					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6157-6159)caG>caT		microtubule-associated protein 1B							119	130	126					5																	71495341		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495341G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6159G>T	5.37:g.71495341G>T	ENSP00000296755:p.Gln2053His						p.Q2053H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6457	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2053					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6159G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029292	0.07589	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.68	2.4	0.29515	.	0.098257	0.45126	D	0.000385	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999998	D;B	0.58970	0.984;0.011	P;B	0.46796	0.527;0.005	T	0.44742	-0.9308	10	0.52906	T	0.07	-18.0727	3.7741	0.08653	0.313:0.0:0.4124:0.2745	.	1927;2053	A2BDK6;P46821	.;MAP1B_HUMAN	H	2053	ENSP00000296755:Q2053H	ENSP00000296755:Q2053H	Q	+	3	2	MAP1B	71531097	0.273000	0.24181	0.614000	0.29051	0.294000	0.27393	0.403000	0.20982	0.711000	0.32018	0.655000	0.94253	CAG		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		119	576	1	0	3.19965e-69	1	4.05994e-69	119	576					T	71495341	G	T	71495341	3	4	79	1	0	0	0	0	1	0	0	0	9269	991	35	3	6177	3	MAP1B	5	71495341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2434	71495341	109419919	6222	16539											
MAP1B	4131	broad.mit.edu	37	chr5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgcagcccttcgccacGccaccctgatgtgtccatgg	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R2213H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - Missense(1)	p.R2213H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6637-6639)cGc>cAc		microtubule-associated protein 1B							121	113	115					5																	71495820		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495820G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6638G>A	5.37:g.71495820G>A	ENSP00000296755:p.Arg2213His						p.R2213H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6936	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2213					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6638G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471969	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.15219	0.0367	L	0.51422	1.61	0.36631	D	0.876291	D;D	0.76494	0.998;0.999	D;P	0.70935	0.971;0.854	T	0.00500	-1.1703	10	0.44086	T	0.13	-11.5509	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2087;2213	A2BDK6;P46821	.;MAP1B_HUMAN	H	2213	ENSP00000296755:R2213H	ENSP00000296755:R2213H	R	+	2	0	MAP1B	71531576	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.954000	0.63631	2.826000	0.97356	0.655000	0.94253	CGC		0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		148	651	0	0	0	1	0	148	651					A	71495820	G	A	71495820	3	1	79	1	0	0	0	0	1	0	0	0	9269	1087	38	1	6656	1	MAP1B	5	71495820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	71495820	109419440	6223	16540											
ZNF366	167465	broad.mit.edu	37	chr5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagaaaaagaggggcccCgccgggtactctgaaaagcc	12	11	2	3	rs372282294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2128-2130)cGg>cAg		zinc finger protein 366		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69	79	76		2129	2.7	1	5		76	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	710/745	71739689	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739689C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2129G>A	5.37:g.71739689C>T	ENSP00000313158:p.Arg710Gln						p.R710Q	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2619	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	710					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.2129G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410426	0.42715	2.27E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.87	2.65	0.31530	.	0.195578	0.35407	N	0.003234	T	0.04003	0.0112	N	0.12182	0.205	0.22940	N	0.998537	B	0.20052	0.041	B	0.08055	0.003	T	0.41770	-0.9490	10	0.24483	T	0.36	-27.7783	6.7823	0.23652	0.4795:0.4319:0.0:0.0886	.	710	Q8N895	ZN366_HUMAN	Q	710	ENSP00000313158:R710Q	ENSP00000313158:R710Q	R	-	2	0	ZNF366	71775445	0.053000	0.20554	0.969000	0.41365	0.938000	0.57974	0.801000	0.27055	0.905000	0.36596	0.655000	0.94253	CGG		0.502	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			27	742	0	0	0	1	0	27	742					T	71739689	C	T	71739689	3	4	79	1	0	0	0	0	1	0	0	0	17923	652	23	1	109	1	ZNF366	5	71739689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243869	71739689	109175571	6224	16541											
ZNF366	167465	broad.mit.edu	37	chr5	71756349	71756349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgcatcatgtggcgCttcaggtggctggtctgggt	16	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	325					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(973-975)aaG>aaA		zinc finger protein 366							42	40	41					5																	71756349		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756349C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.975G>A	5.37:g.71756349C>T							p.K325K	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1465	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	325					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.975G>A	CCDS4015.1																																																																																				0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			66	231	0	0	0	1	0	66	231					T	71756349	C	T	71756349	2	4	79	1	0	0	0	0	0	0	0	1	17923	796	28	2		2	ZNF366	5	71756349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16660	71756349	109158911	6225	16542											
TMEM171	134285	broad.mit.edu	37	chr5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcggcatgctcatcagcGtcctgggcatttgggtccct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(382-384)Gtc>Atc		transmembrane protein 171							125	128	127					5																	72419582		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419582G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	5.37:g.72419582G>A	ENSP00000415030:p.Val128Ile					TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I	p.V128I			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	855	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	128					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.382G>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		113	553	0	0	0	1	0	113	553					A	72419582	G	A	72419582	3	1	79	1	0	0	0	0	1	0	0	0	16140	1145	40	1	384	1	TMEM171	5	72419582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	663233	72419582	108495678	6226	16543											
TMEM174	134288	broad.mit.edu	37	chr5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgatgacaaggcggggGccaccttgctcttctcaggc	13	13	2	2	rs576661140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	38						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(112-114)Gcc>Acc		transmembrane protein 174							159	148	152					5																	72469182		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469182G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.112G>A	5.37:g.72469182G>A	ENSP00000296776:p.Ala38Thr					TMEM174_ENST00000511737.1_3'UTR	p.A38T	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	161	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	38					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.112G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844751	0.71603	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.29908	0.895	0.44603	D	0.997579	P	0.41450	0.75	B	0.40677	0.337	T	0.30001	-0.9993	9	0.36615	T	0.2	-3.8862	11.5914	0.50947	0.1854:0.0:0.8146:0.0	.	38	Q8WUU8	TM174_HUMAN	T	38	.	ENSP00000296776:A38T	A	+	1	0	TMEM174	72504938	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.344000	0.59354	1.530000	0.49136	-0.119000	0.15052	GCC		0.557	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		86	1040	0	0	0	1	0	86	1040					A	72469182	G	A	72469182	3	1	79	1	0	0	0	0	1	0	0	0	16142	1203	42	2	114	2	TMEM174	5	72469182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49600	72469182	108446078	6227	16544											
UTP15	84135	broad.mit.edu	37	chr5	72875701	72875701	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttctttctctctttttaGatatatatctgcctgtaatt	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.e13-1		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							35	39	38					5																	72875701		2195	4297	6492	SO:0001630	splice_region_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72875701G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1340-1G>T	5.37:g.72875701G>T						UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site		NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	13	1594	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)						B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Splice_Site	SNP	ENST00000296792.4	37		CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542509	0.85917	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP15	72911457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.941000	0.99782	0.655000	0.94253	.		0.274	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	Intron	30	159	1	0	9.65021e-13	1	1.03847e-12	30	159					T	72875701	G	T	72875701	5	4	79	1	0	0	0	0	0	0	1	0	17151	956	33	3	1385	3	UTP15	5	72875701	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406519	72875701	108039559	6228	16545											
RGNEF	64283	broad.mit.edu	37	chr5	73154028	73154028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaacactcctggggaaagaGtcactgcagtgttctagtaa	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73154028G>T	ENST00000426542.2	+	15	2051	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E364D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E677D|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E677D			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	677					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGGGGAAAGAGTCACTGCAGT	0.443																																						ENST00000545377.1																			0											c.(2029-2031)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 28							213	209	211					5																	73154028		1902	4132	6034	SO:0001583	missense	64283							g.chr5:73154028G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2031G>T	5.37:g.73154028G>T	ENSP00000412175:p.Glu677Asp					ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E677D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E364D	p.E677D	NM_001080479.2	NP_001073948.2					16	2207	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.2031G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481684	0.26598	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.35	2.35	0.29111	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.82379	0.5024	N	0.21142	0.635	0.29604	N	0.847437	B;B;B;B	0.31503	0.326;0.176;0.011;0.009	B;B;B;B	0.32864	0.154;0.078;0.101;0.036	T	0.72747	-0.4200	9	0.08381	T	0.77	.	6.2498	0.20839	0.2183:0.0:0.6475:0.1342	.	364;677;677;677	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	D	677;677;677;677;677;677;364	ENSP00000296794:E677D;ENSP00000441913:E677D;ENSP00000441436:E677D;ENSP00000287898:E677D;ENSP00000411459:E677D;ENSP00000412175:E677D;ENSP00000296799:E364D	ENSP00000287898:E677D	E	+	3	2	RP11-428C6.1	73189784	0.998000	0.40836	1.000000	0.80357	0.757000	0.42996	0.377000	0.20552	1.261000	0.44149	0.563000	0.77884	GAG		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			131	689	1	0	1.36427e-64	1	1.72405e-64	131	689					T	73154028	G	T	73154028	3	4	79	1	0	0	0	0	1	0	0	0	13333	1020	36	3	2089	3	RGNEF	5	73154028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278327	73154028	107761232	6229	16546											
ENC1	8507	broad.mit.edu	37	chr5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccttggaccactccTcgtgcagggtatcataaacc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000302351.4	-	2	2227	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	366					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1096-1098)gAg>gGg		ectodermal-neural cortex 1 (with BTB domain)							61	62	62					5																	73931214		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931214T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1097A>G	5.37:g.73931214T>C	ENSP00000306356:p.Glu366Gly					ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	p.E366G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2227	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	366					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1097A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172379	0.78452	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76839	-1.05;-1.05;-1.05	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	N	0.25144	0.715	0.80722	D	1	B	0.19445	0.036	B	0.28305	0.088	T	0.67110	-0.5753	10	0.59425	D	0.04	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	366	O14682	ENC1_HUMAN	G	366;293;366	ENSP00000306356:E366G;ENSP00000423804:E293G;ENSP00000446289:E366G	ENSP00000306356:E366G	E	-	2	0	ENC1	73966970	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	GAG		0.567	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		93	418	0	0	0	1	0	93	418					C	73931214	T	C	73931214	3	2	79	1	0	0	0	0	1	0	0	0	5131	1551	54	4	676	4	ENC1	5	73931214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	777186	73931214	106984046	6230	16547											
HEXB	3074	broad.mit.edu	37	chr5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgaatatgccagattaCgaggaattcgagtcctgcca	10	8	0	3	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000261416.7	+	7	958	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HEXB_ENST00000511181.1_Nonsense_Mutation_p.R56*	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	281					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCCAGATTACGAGGAATTCG	0.343																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(166-168)Cga>Tga		hexosaminidase B (beta polypeptide)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152	150	151		841	3.7	1	5	dbSNP_134	151	0,8600		0,0,4300	no	stop-gained	HEXB	NM_000521.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/557	74009400	1,13005	2203	4300	6503	SO:0001587	stop_gained	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74009400C>T	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.841C>T	5.37:g.74009400C>T	ENSP00000261416:p.Arg281*					HEXB_ENST00000261416.7_Nonsense_Mutation_p.R281*	p.R56*			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	7	1078	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	281						Nonsense_Mutation	SNP	ENST00000261416.7	37	c.166C>T	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	46	12.186262	0.99644	2.27E-4	0.0	ENSG00000049860	ENST00000511181;ENST00000261416	.	.	.	5.59	3.71	0.42584	.	0.097811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9659	8.8862	0.35404	0.2495:0.6724:0.0:0.0781	.	.	.	.	X	56;281	.	ENSP00000261416:R281X	R	+	1	2	HEXB	74045156	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	2.131000	0.42074	1.358000	0.45922	0.555000	0.69702	CGA		0.343	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		97	501	0	0	0	1	0	97	501					T	74009400	C	T	74009400	4	4	79	1	0	0	0	0	0	1	0	0	7104	528	19	1	867	1	HEXB	5	74009400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78186	74009400	106905860	6231	16548											
GFM2	84340	broad.mit.edu	37	chr5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgccacctggagaggccCgagataggtctccagtccat	11	12	1	2	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R|GFM2_ENST00000345239.2_Missense_Mutation_p.G511R	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.G558W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGGAGAGGCCCGAGATAGGTC	0.433																																						ENST00000296805.3																			1	Substitution - Missense(1)	p.G558W(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1672-1674)Ggg>Agg		G elongation factor, mitochondrial 2		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	113	107	109		1672,1531	5.6	1	5	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	558/780,511/733	74026139	1,13005	2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74026139C>T	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1672G>A	5.37:g.74026139C>T	ENSP00000296805:p.Gly558Arg					GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R|GFM2_ENST00000345239.2_Missense_Mutation_p.G511R	p.G558R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	17	2129	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	558						Missense_Mutation	SNP	ENST00000296805.3	37	c.1672G>A	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842168	0.91197	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.74209	-0.82;-0.82;-0.82	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.85779	0.1360	10	0.87932	D	0	-13.6338	19.7116	0.96098	0.0:1.0:0.0:0.0	.	558;511;558	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	R	558;511;558	ENSP00000296805:G558R;ENSP00000296804:G511R;ENSP00000427004:G558R	ENSP00000296805:G558R	G	-	1	0	GFM2	74061895	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	7.595000	0.82710	2.673000	0.90976	0.555000	0.69702	GGG		0.433	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		64	239	0	0	0	1	0	64	239					T	74026139	C	T	74026139	3	4	79	1	0	0	0	0	1	0	0	0	6371	652	23	1	687	1	GFM2	5	74026139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16739	74026139	106889121	6232	16549											
GFM2	84340	broad.mit.edu	37	chr5	74047308	74047308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtcactgtgtctccAtcatcaacatctagccagga	6	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74047308A>C	ENST00000296805.3	-	6	772	c.315T>G	c.(313-315)gaT>gaG	p.D105E	GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGTGTCTCCATCATCAACAT	0.388																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(313-315)gaT>gaG		G elongation factor, mitochondrial 2							179	169	172					5																	74047308		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74047308A>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.315T>G	5.37:g.74047308A>C	ENSP00000296805:p.Asp105Glu					GFM2_ENST00000509430.1_Missense_Mutation_p.D105E|GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E	p.D105E	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	6	772	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	105						Missense_Mutation	SNP	ENST00000296805.3	37	c.315T>G	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844763	0.32606	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.84	1.43	0.22495	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.140543	0.64402	D	0.000005	T	0.58061	0.2096	L	0.37507	1.11	0.52501	D	0.999956	B;B;B;B	0.30406	0.074;0.278;0.278;0.091	B;B;B;B	0.36504	0.059;0.226;0.226;0.139	T	0.41770	-0.9490	10	0.07030	T	0.85	-19.5448	5.3805	0.16189	0.7089:0.0:0.1654:0.1257	.	105;105;105;105	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	E	105;105;105;105;105;30	ENSP00000296805:D105E;ENSP00000296804:D105E;ENSP00000427004:D105E;ENSP00000405808:D105E;ENSP00000424877:D30E	ENSP00000296805:D105E	D	-	3	2	GFM2	74083064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.169000	0.31871	0.341000	0.23771	0.528000	0.53228	GAT		0.388	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		13	825	0	0	0	1	0	13	825					C	74047308	A	C	74047308	3	2	79	1	0	0	0	0	1	0	0	0	6371	214	8	4	2120	4	GFM2	5	74047308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21169	74047308	106867952	6233	16550											
FAM169A	26049	broad.mit.edu	37	chr5	74091955	74091955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcaatccctctctgttcaGgttcttcttccaggaattct	5	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74091955G>T	ENST00000389156.4	-	11	1250	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	387	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTCTGTTCAGGTTCTTCTTC	0.433																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.(1159-1161)cCt>cAt		family with sequence similarity 169, member A							175	160	165					5																	74091955		1925	4142	6067	SO:0001583	missense	26049							g.chr5:74091955G>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.1160C>A	5.37:g.74091955G>T	ENSP00000373808:p.Pro387His					FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H|FAM169A_ENST00000380515.3_3'UTR	p.P387H	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			11	1250	-			387			Asp/Glu-rich.		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1160C>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255043	0.22965	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.46063	0.88	5.91	3.1	0.35709	.	0.676716	0.14097	N	0.341650	T	0.31327	0.0793	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.26258	0.013;0.145	B;B	0.31442	0.013;0.13	T	0.33420	-0.9869	10	0.72032	D	0.01	-1.4944	4.4626	0.11673	0.0816:0.1453:0.5967:0.1764	.	327;387	D6RB01;Q9Y6X4	.;F169A_HUMAN	H	387;327	ENSP00000373808:P387H	ENSP00000373808:P387H	P	-	2	0	FAM169A	74127711	0.037000	0.19845	0.007000	0.13788	0.687000	0.40016	0.715000	0.25822	0.348000	0.23949	-0.165000	0.13383	CCT		0.433	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			24	595	1	0	5.35356e-11	1	5.69577e-11	24	595					T	74091955	G	T	74091955	3	4	79	1	0	0	0	0	1	0	0	0	5508	1000	35	3	864	3	FAM169A	5	74091955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44647	74091955	106823305	6234	16551											
HMGCR	3156	broad.mit.edu	37	chr5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccagttccagaatttaCgtcaacttggatcaaaatat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	84	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(250-252)Cgt>Tgt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						95	95	95					5																	74639762		2203	4297	6500	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74639762C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.250C>T	5.37:g.74639762C>T	ENSP00000287936:p.Arg84Cys					HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	3	406	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	84					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.250C>T	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683876|3.683876	0.68157|0.68157	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942|ENST00000544469	D;D;D|.	0.93247|.	-3.19;-3.19;-3.19|.	5.36|5.36	4.41|4.41	0.53225|0.53225	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.947;0.994;0.947|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|6	0.87932|0.87932	D|D	0|0	-11.8413|-11.8413	12.8214|12.8214	0.57696|0.57696	0.2856:0.7144:0.0:0.0|0.2856:0.7144:0.0:0.0	.|.	84;84;84|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	C|M	84|15	ENSP00000426745:R84C;ENSP00000287936:R84C;ENSP00000340816:R84C|.	ENSP00000287936:R84C|ENSP00000440782:T15M	R|T	+|+	1|2	0|0	HMGCR|HMGCR	74675518|74675518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.679000|2.679000	0.46909|0.46909	2.505000|2.505000	0.84491|0.84491	0.591000|0.591000	0.81541|0.81541	CGT|ACG		0.328	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			50	275	0	0	0	1	0	50	275					T	74639762	C	T	74639762	3	4	79	1	0	0	0	0	1	0	0	0	7261	536	19	1	256	1	HMGCR	5	74639762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547807	74639762	106275498	6235	16552											
HMGCR	3156	broad.mit.edu	37	chr5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccatctatagagataGgaacggtgggtggtgggacc	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	803	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATAGAGATAGGAACGGTGGG	0.448																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(2407-2409)Gga>Tga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						80	82	81					5																	74655331		2203	4300	6503	SO:0001587	stop_gained	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74655331G>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2407G>T	5.37:g.74655331G>T	ENSP00000287936:p.Gly803*					HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	p.G803*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	18	2563	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	803			Catalytic.		B7Z3Y9|Q8N190	Nonsense_Mutation	SNP	ENST00000287936.4	37	c.2407G>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	40	7.964543	0.98585	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2011	17.8148	0.88628	0.0:0.0:1.0:0.0	.	.	.	.	X	803;734;803;750;180	.	ENSP00000287936:G803X	G	+	1	0	HMGCR	74691087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.592000	0.98245	2.416000	0.81992	0.655000	0.94253	GGA		0.448	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			11	247	1	0	1.58986e-06	1	1.64048e-06	11	247					T	74655331	G	T	74655331	4	4	79	1	0	0	0	0	0	1	0	0	7261	1001	35	3	2473	3	HMGCR	5	74655331	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15569	74655331	106259929	6236	16553											
COL4A3BP	10087	broad.mit.edu	37	chr5	74676924	74676924	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacatatgtaatcttgcataGaatgttgtccctgctaattt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000405807.4	-	16	2141	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	COL4A3BP_ENST00000380494.5_Silent_p.L702L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	574	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(2104-2106)Cta>Tta		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							241	215	224					5																	74676924		2203	4300	6503	SO:0001819	synonymous_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74676924G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1720C>T	5.37:g.74676924G>A						COL4A3BP_ENST00000405807.4_Silent_p.L574L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	p.L702L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2397	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	574					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	c.2104C>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009043	0.19199	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.76905	0.4053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	-7.9902	20.0985	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	COL4A3BP	74712680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.644000	0.61397	2.742000	0.94016	0.579000	0.79373	TCT		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		136	629	0	0	0	1	0	136	629					A	74676924	G	A	74676924	2	1	79	1	0	0	0	0	0	0	0	1	3701	933	33	2		2	COL4A3BP	5	74676924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21593	74676924	106238336	6237	16554											
POLK	51426	broad.mit.edu	37	chr5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggacaggaaacaccaaCaaaggagcattattggcttt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	526					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAAACACCAACAAAGGAGCAT	0.378								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1576-1578)Caa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							51	53	52					5																	74892094		2203	4300	6503	SO:0001587	stop_gained	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892094C>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1576C>T	5.37:g.74892094C>T	ENSP00000241436:p.Gln526*					POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*	p.Q526*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1748	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	526					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	ENST00000241436.4	37	c.1576C>T	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605983	0.97701	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	5.66	0.87406	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.8568	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	526;328;328;436	.	ENSP00000241436:Q526X	Q	+	1	0	POLK	74927850	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.627000	0.74258	2.661000	0.90470	0.655000	0.94253	CAA		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		7	218	0	0	0	1	0	7	218					T	74892094	C	T	74892094	4	4	79	1	0	0	0	0	0	1	0	0	12246	479	17	2	1622	2	POLK	5	74892094	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215170	74892094	106023166	6238	16555											
SV2C	22987	broad.mit.edu	37	chr5	75428010	75428010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgataatccaagaatgCggtcatggtcgttttcagtg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(433-435)tgC>tgT		synaptic vesicle glycoprotein 2C							199	198	198					5																	75428010		2039	4185	6224	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428010C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T						SV2C_ENST00000322285.7_Silent_p.C145C	p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	877	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	145					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.435C>T	CCDS43331.1																																																																																				0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			48	467	0	0	0	1	0	48	467					T	75428010	C	T	75428010	2	4	79	1	0	0	0	0	0	0	0	1	15471	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535916	75428010	105487250	6239	16556											
SV2C	22987	broad.mit.edu	37	chr5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgttggcttcgtgttacccAgtgctgagacagacctctgc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	178					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTGTTACCCAGTGCTGAGAC	0.512																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(532-534)Agt>Ggt		synaptic vesicle glycoprotein 2C							160	151	154					5																	75428107		2068	4205	6273	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428107A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.532A>G	5.37:g.75428107A>G	ENSP00000423541:p.Ser178Gly					SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	974	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	178					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.532A>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979483	0.74360	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47528	0.84;0.84	5.65	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71441	-0.4592	10	0.87932	D	0	-11.3857	12.8594	0.57906	0.8636:0.1364:0.0:0.0	.	178	Q496J9	SV2C_HUMAN	G	178	ENSP00000423541:S178G;ENSP00000316983:S178G	ENSP00000316983:S178G	S	+	1	0	SV2C	75463863	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.339000	0.96797	0.962000	0.38057	-0.313000	0.08912	AGT		0.512	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			75	356	0	0	0	1	0	75	356					G	75428107	A	G	75428107	3	3	79	1	0	0	0	0	1	0	0	0	15471	188	7	4	534	4	SV2C	5	75428107	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	97	75428107	105487153	6240	16557											
F2RL2	2151	broad.mit.edu	37	chr5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtatgaaaaatggcagCatatataagaaaactgttgc	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000296641.4	-	2	878	c.675G>A	c.(673-675)atG>atA	p.M225I	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	225					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAATGGCAGCATATATAAGA	0.493																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(673-675)atG>atA		coagulation factor II (thrombin) receptor-like 2							62	58	59					5																	75913857		2203	4300	6503	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75913857C>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.675G>A	5.37:g.75913857C>T	ENSP00000296641:p.Met225Ile					IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	p.M225I	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	878	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	225					B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.675G>A	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36699	1.24;1.24	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.136641	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.37047	D	0.897399	B	0.26258	0.145	B	0.29267	0.1	T	0.22626	-1.0211	10	0.21014	T	0.42	-26.9937	18.5213	0.90954	0.0:1.0:0.0:0.0	.	225	O00254	PAR3_HUMAN	I	225;203	ENSP00000296641:M225I;ENSP00000426703:M203I	ENSP00000296641:M225I	M	-	3	0	F2RL2	75949613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.429000	0.52800	2.367000	0.80283	0.563000	0.77884	ATG		0.493	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			8	216	0	0	0	1	0	8	216					T	75913857	C	T	75913857	3	4	79	1	0	0	0	0	1	0	0	0	5363	710	25	2	453	2	F2RL2	5	75913857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485750	75913857	105001403	6241	16558											
F2RL2	2151	broad.mit.edu	37	chr5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggggagctccacgaaaggTcttaatgggtaaggttggct	16	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000296641.4	-	2	318	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	39		Cleavage; by thrombin. {ECO:0000250}.			blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(115-117)Acc>Tcc		coagulation factor II (thrombin) receptor-like 2							81	91	88					5																	75914417		2186	4293	6479	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914417T>A	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.115A>T	5.37:g.75914417T>A	ENSP00000296641:p.Thr39Ser					IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	p.T39S	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	318	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	39				Cleavage; by thrombin (By similarity).	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.115A>T	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736183	0.30774	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65178	-0.14;-0.08	4.65	3.42	0.39159	.	0.067630	0.56097	N	0.000031	T	0.44519	0.1297	L	0.28458	0.855	0.26358	N	0.977094	B	0.23891	0.093	B	0.23150	0.044	T	0.23797	-1.0178	10	0.14252	T	0.57	-10.413	8.9959	0.36052	0.165:0.0:0.0:0.835	.	39	O00254	PAR3_HUMAN	S	39;17	ENSP00000296641:T39S;ENSP00000426703:T17S	ENSP00000296641:T39S	T	-	1	0	F2RL2	75950173	1.000000	0.71417	0.316000	0.25252	0.700000	0.40528	1.729000	0.38115	0.595000	0.29777	0.460000	0.39030	ACC		0.398	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			99	445	0	0	0	1	0	99	445					A	75914417	T	A	75914417	3	1	79	1	0	0	0	0	1	0	0	0	5363	1667	58	5	1013	5	F2RL2	5	75914417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	560	75914417	105000843	6242	16559											
IQGAP2	10788	broad.mit.edu	37	chr5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcatgcttgtataAagaatcatggctcacaggaa	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	631					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTGTATAAAGAATCATGG	0.373																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1891-1893)aAa>aCa		IQ motif containing GTPase activating protein 2							104	102	103					5																	75932970		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75932970A>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1892A>C	5.37:g.75932970A>C	ENSP00000274364:p.Lys631Thr					IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T	p.K631T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	16	2189	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	631					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.1892A>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455648	0.26161	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	.	0.271796	0.42053	D	0.000765	T	0.56978	0.2022	M	0.71581	2.175	0.24087	N	0.995924	P;B;P;B	0.37914	0.611;0.141;0.611;0.141	B;B;B;B	0.38842	0.283;0.108;0.283;0.065	T	0.54925	-0.8220	10	0.27082	T	0.32	-22.9968	12.3878	0.55343	1.0:0.0:0.0:0.0	.	190;581;184;631	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	631;190;604;581;184;184;184;184	ENSP00000274364:K631T;ENSP00000442313:K190T;ENSP00000423672:K604T;ENSP00000421097:K581T;ENSP00000422661:K184T;ENSP00000379535:K184T;ENSP00000426027:K184T	ENSP00000274364:K631T	K	+	2	0	IQGAP2	75968726	1.000000	0.71417	0.228000	0.23943	0.142000	0.21351	4.922000	0.63404	2.186000	0.69663	0.477000	0.44152	AAA		0.373	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		104	379	0	0	0	1	0	104	379					C	75932970	A	C	75932970	3	2	79	1	0	0	0	0	1	0	0	0	7845	14	1	4	1954	4	IQGAP2	5	75932970	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18553	75932970	104982290	6243	16560											
IQGAP2	10788	broad.mit.edu	37	chr5	75967644	75967644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacagtcatcaagatggtCgtcagcttcaatagaggtgc	10	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000502745.1_Silent_p.V464V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	968	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCAAGATGGTCGTCAGCTTCA	0.468																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2902-2904)gtC>gtT		IQ motif containing GTPase activating protein 2							81	83	82					5																	75967644		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75967644C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2904C>T	5.37:g.75967644C>T						IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000379730.3_Silent_p.V470V	p.V968V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	24	3201	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	968			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.2904C>T	CCDS34188.1																																																																																				0.468	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		63	249	0	0	0	1	0	63	249					T	75967644	C	T	75967644	2	4	79	1	0	0	0	0	0	0	0	1	7845	871	31	1		1	IQGAP2	5	75967644	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34674	75967644	104947616	6244	16561											
IQGAP2	10788	broad.mit.edu	37	chr5	75979000	75979000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacttactgagtgaattgCtggggtcgctgggagaggtg	17	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000502745.1_Silent_p.L737L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1241					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGTGAATTGCTGGGGTCGCT	0.433																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3721-3723)Ctg>Ttg		IQ motif containing GTPase activating protein 2							113	119	117					5																	75979000		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75979000C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3721C>T	5.37:g.75979000C>T						IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000379730.3_Silent_p.L743L	p.L1241L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	29	4018	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1241					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3721C>T	CCDS34188.1																																																																																				0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		78	382	0	0	0	1	0	78	382					T	75979000	C	T	75979000	2	4	79	1	0	0	0	0	0	0	0	1	7845	796	28	2		2	IQGAP2	5	75979000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11356	75979000	104936260	6245	16562											
IQGAP2	10788	broad.mit.edu	37	chr5	76003126	76003126	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctgctgaacaagaagttCtatggaaagtgaagtgccta	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000502745.1_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1572					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGAAGTTCTATGGAAAGT	0.299																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4714-4716)ttC>ttT		IQ motif containing GTPase activating protein 2							68	67	67					5																	76003126		2203	4298	6501	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:76003126C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4716C>T	5.37:g.76003126C>T						IQGAP2_ENST00000502745.1_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Silent_p.F1074F	p.F1572F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	36	5013	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1572					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.4716C>T	CCDS34188.1																																																																																				0.299	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		8	212	0	0	0	1	0	8	212					T	76003126	C	T	76003126	2	4	79	1	0	0	0	0	0	0	0	1	7845	912	32	2		2	IQGAP2	5	76003126	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24126	76003126	104912134	6246	16563											
F2RL1	2150	broad.mit.edu	37	chr5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacccttaacagctgcatcGacccctttgtctattacttt	4	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1018-1020)Gac>Aac		coagulation factor II (thrombin) receptor-like 1							370	362	365					5																	76129450		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129450G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1018G>A	5.37:g.76129450G>A	ENSP00000296677:p.Asp340Asn						p.D340N	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1224	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	340					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1018G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC		0.473	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			452	1974	0	0	0	1	0	452	1974					A	76129450	G	A	76129450	3	1	79	1	0	0	0	0	1	0	0	0	5362	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126324	76129450	104785810	6247	16564											
CRHBP	1393	broad.mit.edu	37	chr5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtcttagcaggaggaGcatcagatcttcccagaatg	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	149					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AGCAGGAGGAGCATCAGATCT	0.493																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(445-447)aGc>aAc		corticotropin releasing hormone binding protein							122	107	112					5																	76251590		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251590G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.446G>A	5.37:g.76251590G>A	ENSP00000274368:p.Ser149Asn					CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	868	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	149					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.446G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506401	0.12883	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.60299	0.2;0.2	3.76	1.87	0.25490	CUB (1);	0.191352	0.53938	D	0.000051	T	0.56978	0.2022	L	0.59436	1.845	0.29183	N	0.876387	P;B	0.40578	0.722;0.351	P;B	0.46172	0.506;0.09	T	0.55042	-0.8202	10	0.45353	T	0.12	-24.923	9.8428	0.41008	0.0:0.4215:0.4347:0.1438	.	149;149	D6RHH7;P24387	.;CRHBP_HUMAN	N	149	ENSP00000274368:S149N;ENSP00000426097:S149N	ENSP00000274368:S149N	S	+	2	0	CRHBP	76287346	0.302000	0.24454	0.965000	0.40720	0.627000	0.37826	0.364000	0.20325	0.516000	0.28340	0.655000	0.94253	AGC		0.493	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		14	318	0	0	0	1	0	14	318					A	76251590	G	A	76251590	3	1	79	1	0	0	0	0	1	0	0	0	3879	971	34	2	460	2	CRHBP	5	76251590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122140	76251590	104663670	6248	16565											
AGGF1	55109	broad.mit.edu	37	chr5	76326595	76326595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgcgccggagctcatgGcctcggaggcgccgtccccg	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76326595G>A	ENST00000312916.7	+	1	386	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	2					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGAGCTCATGGCCTCGGAGGc	0.741																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(4-6)Gcc>Acc		angiogenic factor with G patch and FHA domains 1							6	7	7					5																	76326595		2086	4002	6088	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76326595G>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.4G>A	5.37:g.76326595G>A	ENSP00000316109:p.Ala2Thr					AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T|AGGF1_ENST00000503538.1_Intron	p.A2T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	1	386	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	2					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.4G>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704739	0.48412	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;D	0.83163	0.86;-1.69	4.04	4.04	0.47022	.	1.581550	0.03952	N	0.288677	D	0.90099	0.6907	L	0.54323	1.7	0.38013	D	0.934595	D;D	0.89917	0.993;1.0	D;D	0.83275	0.977;0.996	T	0.81373	-0.0962	10	0.87932	D	0	-13.0957	11.9022	0.52690	0.0:0.0:1.0:0.0	.	2;2	Q8N302;Q8N302-3	AGGF1_HUMAN;.	T	2	ENSP00000316109:A2T;ENSP00000424733:A2T	ENSP00000316109:A2T	A	+	1	0	AGGF1	76362351	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.055000	0.57441	2.258000	0.74832	0.555000	0.69702	GCC		0.741	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		6	60	0	0	0	1	0	6	60					A	76326595	G	A	76326595	3	1	79	1	0	0	0	0	1	0	0	0	382	1203	42	2	6	2	AGGF1	5	76326595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75005	76326595	104588665	6249	16566											
PDE8B	8622	broad.mit.edu	37	chr5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagagcctcattcattcagAtataagaacaggaggaaaga	9	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	409					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATTCATTCAGATATAAGAACA	0.358																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1225-1227)agA>agC		phosphodiesterase 8B							88	88	88					5																	76700561		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76700561A>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1227A>C	5.37:g.76700561A>C	ENSP00000264917:p.Arg409Ser					PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S	p.R409S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	12	1272	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	409					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1227A>C	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170914	0.38315	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.70749	-0.46;-0.51;-0.46;-0.46;-0.4	4.75	3.5	0.40072	.	0.168621	0.48286	N	0.000194	T	0.53818	0.1820	L	0.33485	1.01	0.80722	D	1	B;B;P;B;B	0.35139	0.214;0.337;0.486;0.337;0.228	B;B;B;B;B	0.35727	0.098;0.149;0.209;0.149;0.071	T	0.47611	-0.9104	10	0.20519	T	0.43	.	6.6596	0.23007	0.7848:0.0:0.078:0.1372	.	312;362;409;389;409	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	362;312;409;389;409	ENSP00000345446:R362S;ENSP00000330428:R312S;ENSP00000264917:R409S;ENSP00000345646:R389S;ENSP00000331336:R409S	ENSP00000264917:R409S	R	+	3	2	PDE8B	76736317	0.018000	0.18449	1.000000	0.80357	0.980000	0.70556	0.256000	0.18351	1.898000	0.54952	0.460000	0.39030	AGA		0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		41	201	0	0	0	1	0	41	201					C	76700561	A	C	76700561	3	2	79	1	0	0	0	0	1	0	0	0	11696	330	12	4	1273	4	PDE8B	5	76700561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	373966	76700561	104214699	6250	16567											
PDE8B	8622	broad.mit.edu	37	chr5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaacagagatgacaaaAcactttgaacatgtgaataa	8	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	731	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGATGACAAAACACTTTGAAC	0.433																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(2191-2193)aaA>aaC		phosphodiesterase 8B							128	109	116					5																	76715655		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76715655A>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2193A>C	5.37:g.76715655A>C	ENSP00000264917:p.Lys731Asn					PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N	p.K731N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	19	2238	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	731			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.2193A>C	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065729	0.55539	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.87	3.53	0.40419	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043664	0.85682	D	0.000000	T	0.72819	0.3508	L	0.38838	1.175	0.46521	D	0.999086	B;P;P;P;P	0.46706	0.27;0.858;0.596;0.858;0.883	B;P;B;P;P	0.50754	0.145;0.517;0.259;0.517;0.649	T	0.71955	-0.4436	10	0.59425	D	0.04	.	5.9761	0.19379	0.6459:0.0:0.3541:0.0	.	634;684;676;711;731	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	684;634;731;711;676;196	ENSP00000345446:K684N;ENSP00000330428:K634N;ENSP00000264917:K731N;ENSP00000345646:K711N;ENSP00000331336:K676N;ENSP00000423461:K196N	ENSP00000264917:K731N	K	+	3	2	PDE8B	76751411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.847000	0.39299	1.054000	0.40438	0.533000	0.62120	AAA		0.433	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		14	384	0	0	0	1	0	14	384					C	76715655	A	C	76715655	3	2	79	1	0	0	0	0	1	0	0	0	11696	40	2	4	2267	4	PDE8B	5	76715655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15094	76715655	104199605	6251	16568											
WDR41	55255	broad.mit.edu	37	chr5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaaggatacaataactgttCtatcagcagaggctgtcaag	9	7	3	1	rs542320192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	113						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AATAACTGTTCTATCAGCAGA	0.383																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(337-339)aGa>aTa		WD repeat domain 41							89	89	89					5																	76758930		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76758930C>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.338G>T	5.37:g.76758930C>A	ENSP00000296679:p.Arg113Ile					WDR41_ENST00000507029.1_Missense_Mutation_p.R58I|WDR41_ENST00000414719.2_5'UTR	p.R113I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	4	713	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	113					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.338G>T	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676484	0.67928	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.81	0.884	0.19182	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194541	0.53938	D	0.000045	T	0.74861	0.3772	M	0.93550	3.43	0.80722	D	1	P;D	0.55800	0.896;0.973	P;P	0.58210	0.603;0.835	T	0.75560	-0.3275	10	0.59425	D	0.04	-5.7762	9.5332	0.39207	0.0:0.5816:0.0:0.4184	.	58;113	B4DT55;Q9HAD4	.;WDR41_HUMAN	I	113;106;58;113;108;105;110	ENSP00000296679:R113I;ENSP00000426499:R106I;ENSP00000424287:R58I;ENSP00000426937:R113I;ENSP00000422510:R108I;ENSP00000426141:R105I;ENSP00000422922:R110I	ENSP00000296679:R113I	R	-	2	0	WDR41	76794686	0.999000	0.42202	0.709000	0.30452	0.972000	0.66771	0.551000	0.23361	-0.120000	0.11809	-0.312000	0.09012	AGA		0.383	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		34	161	1	0	4.62619e-21	1	5.20214e-21	34	161					A	76758930	C	A	76758930	3	1	79	1	0	0	0	0	1	0	0	0	17348	913	32	3	1081	3	WDR41	5	76758930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43275	76758930	104156330	6252	16569											
OTP	23440	broad.mit.edu	37	chr5	76926430	76926430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacacgccaggcatggCggccgccgcccagcgggtgt	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	ENST00000306422.3	-	3	1775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	213	Poly-Ala.				forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAGGCATGGCGGCCGCCGCC	0.751																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(637-639)Gcc>Acc		orthopedia homeobox							3	4	3					5																	76926430		1548	3330	4878	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76926430C>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.637G>A	5.37:g.76926430C>T	ENSP00000302814:p.Ala213Thr						p.A213T	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	3	1775	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	213			Poly-Ala.			Missense_Mutation	SNP	ENST00000306422.3	37	c.637G>A	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404441	0.62288	.	.	ENSG00000171540	ENST00000306422	D	0.92249	-3.0	3.62	3.62	0.41486	.	0.138675	0.47093	D	0.000256	D	0.82518	0.5054	L	0.29908	0.895	0.35238	D	0.777562	P	0.44734	0.842	B	0.26310	0.068	D	0.85458	0.1165	10	0.20046	T	0.44	.	15.0675	0.72008	0.0:1.0:0.0:0.0	.	213	Q5XKR4	OTP_HUMAN	T	213	ENSP00000302814:A213T	ENSP00000302814:A213T	A	-	1	0	OTP	76962186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.032000	0.41127	1.846000	0.53633	0.436000	0.28706	GCC		0.751	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			7	34	0	0	0	1	0	7	34					T	76926430	C	T	76926430	3	4	79	1	0	0	0	0	1	0	0	0	11352	768	27	1	344	1	OTP	5	76926430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167500	76926430	103988830	6253	16570											
OTP	23440	broad.mit.edu	37	chr5	76933016	76933016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagcctacacttcaccGcctcccggtggcccagaagc	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	ENST00000306422.3	-	2	1215	c.77C>T	c.(76-78)gCg>gTg	p.A26V	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	26					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		ACACTTCACCGCCTCCCGGTG	0.677																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(76-78)gCg>gTg		orthopedia homeobox							5	6	6					5																	76933016		2143	4209	6352	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76933016G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.77C>T	5.37:g.76933016G>A	ENSP00000302814:p.Ala26Val						p.A26V	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1215	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	26						Missense_Mutation	SNP	ENST00000306422.3	37	c.77C>T	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815738	0.96982	.	.	ENSG00000171540	ENST00000306422	D	0.92348	-3.02	5.46	5.46	0.80206	.	0.063719	0.64402	D	0.000009	D	0.91202	0.7228	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.52189	0.692	D	0.92173	0.5745	10	0.66056	D	0.02	.	19.2874	0.94084	0.0:0.0:1.0:0.0	.	26	Q5XKR4	OTP_HUMAN	V	26	ENSP00000302814:A26V	ENSP00000302814:A26V	A	-	2	0	OTP	76968772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.218000	0.95166	2.732000	0.93576	0.655000	0.94253	GCG		0.677	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			6	43	0	0	0	1	0	6	43					A	76933016	G	A	76933016	3	1	79	1	0	0	0	0	1	0	0	0	11352	1087	38	1	908	1	OTP	5	76933016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6586	76933016	103982244	6254	16571											
AP3B1	8546	broad.mit.edu	37	chr5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagaagggactgcacCtacattggctacatttacaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000255194.6	-	26	3272	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1033					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGACTGCACCTACATTGGCT	0.388									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3097-3099)Ggt>Tgt		adaptor-related protein complex 3, beta 1 subunit							122	116	118					5																	77311268		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311268C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3097G>T	5.37:g.77311268C>A	ENSP00000255194:p.Gly1033Cys					AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	p.G1033C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	26	3272	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1033					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3097G>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268917|3.268917	0.59540|0.59540	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.057286|.	0.64402|.	D|.	0.000002|.	T|.	0.73946|.	0.3652|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51449|.	0.945|.	P|.	0.52823|.	0.71|.	T|.	0.72207|.	-0.4360|.	10|.	0.48119|.	T|.	0.1|.	-12.4687|-12.4687	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1033|.	O00203|.	AP3B1_HUMAN|.	C|Y	1033;984|132	ENSP00000255194:G1033C;ENSP00000430597:G984C|.	ENSP00000255194:G1033C|.	G|X	-|-	1|3	0|2	AP3B1|AP3B1	77347024|77347024	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.514000|0.514000	0.34195|0.34195	6.492000|6.492000	0.73654|0.73654	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GGT|TAG		0.388	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			99	445	1	0	6.50375e-52	1	8.08219e-52	99	445					A	77311268	C	A	77311268	3	1	79	1	0	0	0	0	1	0	0	0	744	681	24	3	195	3	AP3B1	5	77311268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378252	77311268	103603992	6255	16572											
AP3B1	8546	broad.mit.edu	37	chr5	77423893	77423893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgaactgatgggtcgggCgccacctctggccaattaga	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000255194.6	-	17	2104	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AP3B1_ENST00000519295.1_Silent_p.A594A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	643					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGGTCGGGCGCCACCTCTG	0.398									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1927-1929)gcG>gcA		adaptor-related protein complex 3, beta 1 subunit							77	80	79					5																	77423893		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77423893C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1929G>A	5.37:g.77423893C>T						AP3B1_ENST00000519295.1_Silent_p.A594A	p.A643A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	17	2104	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	643					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.1929G>A	CCDS4041.1																																																																																				0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			77	386	0	0	0	1	0	77	386					T	77423893	C	T	77423893	2	4	79	1	0	0	0	0	0	0	0	1	744	755	27	1		1	AP3B1	5	77423893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112625	77423893	103491367	6256	16573											
AP3B1	8546	broad.mit.edu	37	chr5	77458776	77458776	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctggcttttcacataggtCtaaaagatattatttcaatt	5	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000255194.6	-	13	1406		c.e13-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCACATAGGTCTAAAAGATAT	0.348									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.e13-1		adaptor-related protein complex 3, beta 1 subunit							88	86	87					5																	77458776		2203	4299	6502	SO:0001630	splice_region_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77458776C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1231-1G>T	5.37:g.77458776C>A						AP3B1_ENST00000519295.1_Splice_Site		NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	13	1406	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)						E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	SNP	ENST00000255194.6	37		CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543789	0.86022	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77494532	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.728000	0.93425	0.650000	0.86243	.		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		Intron	75	371	1	0	2.72187e-29	1	3.17825e-29	75	371					A	77458776	C	A	77458776	5	1	79	1	0	0	0	0	0	0	1	0	744	927	32	3	2114	3	AP3B1	5	77458776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34883	77458776	103456484	6257	16574											
AP3B1	8546	broad.mit.edu	37	chr5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatcatgacctacctaTtgctacgaagtaaacgcact	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000255194.6	-	9	1212	c.1037A>C	c.(1036-1038)aAt>aCt	p.N346T	AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	346					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACCTACCTATTGCTACGAAG	0.323									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1036-1038)aAt>aCt		adaptor-related protein complex 3, beta 1 subunit							97	93	94					5																	77473166		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473166T>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1037A>C	5.37:g.77473166T>G	ENSP00000255194:p.Asn346Thr					AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	p.N346T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	9	1212	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	346					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1037A>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516823	0.64634	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25414	1.8;1.8	5.45	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.185075	0.56097	D	0.000025	T	0.25606	0.0623	L	0.29908	0.895	0.40808	D	0.983395	P	0.38223	0.623	P	0.46452	0.517	T	0.04737	-1.0930	10	0.66056	D	0.02	.	9.6986	0.40171	0.0:0.1412:0.0:0.8588	.	346	O00203	AP3B1_HUMAN	T	346;297;346;250	ENSP00000255194:N346T;ENSP00000430597:N297T	ENSP00000255194:N346T	N	-	2	0	AP3B1	77508922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.981000	0.56902	0.376000	0.24707	0.402000	0.26972	AAT		0.323	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			9	312	0	0	0	1	0	9	312					G	77473166	T	G	77473166	3	3	79	1	0	0	0	0	1	0	0	0	744	1493	52	4	2323	4	AP3B1	5	77473166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14390	77473166	103442094	6258	16575											
LHFPL2	10184	broad.mit.edu	37	chr5	77805796	77805796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcgtagggcccgcacaGcgtgtcccgctggaagtgct	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77805796G>A	ENST00000515007.2	-	2	551	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	LHFPL2_ENST00000380345.2_Silent_p.L81L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGCCCGCACAGCGTGTCCCGC	0.672																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(241-243)Ctg>Ttg		lipoma HMGIC fusion partner-like 2							22	23	23					5																	77805796		2203	4299	6502	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77805796G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.241C>T	5.37:g.77805796G>A						LHFPL2_ENST00000515007.2_Silent_p.L81L	p.L81L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	916	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	81					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.241C>T	CCDS4042.1																																																																																				0.672	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		5	161	0	0	0	1	0	5	161					A	77805796	G	A	77805796	2	1	79	1	0	0	0	0	0	0	0	1	8797	962	34	2		2	LHFPL2	5	77805796	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332630	77805796	103109464	6259	16576											
ARSB	411	broad.mit.edu	37	chr5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaacttcttcgccatctCgaaaatcaagagcacatcgt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q|ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	197					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(589-591)cGa>cAa		arylsulfatase B							97	87	90					5																	78260339		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260339C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.590G>A	5.37:g.78260339C>T	ENSP00000264914:p.Arg197Gln					ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1126	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	197					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.590G>A	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176424	0.94846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96587	-4.06;-4.06	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065278	0.64402	D	0.000008	D	0.97501	0.9182	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.835	D	0.97063	0.9772	10	0.41790	T	0.15	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	197;197	Q8N322;P15848	.;ARSB_HUMAN	Q	197	ENSP00000264914:R197Q;ENSP00000379455:R197Q	ENSP00000264914:R197Q	R	-	2	0	ARSB	78296095	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.177000	0.77650	2.662000	0.90505	0.650000	0.86243	CGA		0.393	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		61	234	0	0	0	1	0	61	234					T	78260339	C	T	78260339	3	4	79	1	0	0	0	0	1	0	0	0	989	884	31	1	1068	1	ARSB	5	78260339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454543	78260339	102654921	6260	16577											
ARSB	411	broad.mit.edu	37	chr5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaagtaggtatcaaatcCtcggcgggttggaaggcatt	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*|ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	161					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(481-483)Gga>Tga		arylsulfatase B							127	124	125					5																	78264847		2203	4300	6503	SO:0001587	stop_gained	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78264847C>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.481G>T	5.37:g.78264847C>A	ENSP00000264914:p.Gly161*					ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	2	1017	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	161					B2RC20|Q8N322|Q9UDI9	Nonsense_Mutation	SNP	ENST00000264914.4	37	c.481G>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	44	11.112110	0.99517	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000264914:G161X	G	-	1	0	ARSB	78300603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.894000	0.99253	0.655000	0.94253	GGA		0.443	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		60	536	1	0	6.25564e-26	1	7.19412e-26	60	536					A	78264847	C	A	78264847	4	1	79	1	0	0	0	0	0	1	0	0	989	690	24	3	1181	3	ARSB	5	78264847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4508	78264847	102650413	6261	16578											
DMGDH	29958	broad.mit.edu	37	chr5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaccccatggaacacttaGactccagcctttgatagagc	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	480					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAACACTTAGACTCCAGCCT	0.507																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1438-1440)tCt>tTt		dimethylglycine dehydrogenase							128	131	130					5																	78328588		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78328588G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1439C>T	5.37:g.78328588G>A	ENSP00000255189:p.Ser480Phe					DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F|DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F	p.S480F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	9	1467	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	480					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1439C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828160	0.50845	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	5.27	0.74061	.	0.351137	0.32836	N	0.005583	T	0.79082	0.4386	N	0.24115	0.695	0.29117	N	0.88048	P;P;P;P	0.48089	0.833;0.905;0.739;0.621	B;P;B;B	0.46110	0.252;0.504;0.382;0.212	T	0.77286	-0.2644	10	0.56958	D	0.05	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	100;279;330;480	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	480;319;279;100;330	ENSP00000255189:S480F;ENSP00000430972:S319F;ENSP00000369667:S279F;ENSP00000439478:S100F	ENSP00000255189:S480F	S	-	2	0	DMGDH	78364344	0.992000	0.36948	0.669000	0.29828	0.682000	0.39822	4.265000	0.58865	2.465000	0.83290	0.655000	0.94253	TCT		0.507	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		196	743	0	0	0	1	0	196	743					A	78328588	G	A	78328588	3	1	79	1	0	0	0	0	1	0	0	0	4597	942	33	2	1193	2	DMGDH	5	78328588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63741	78328588	102586672	6262	16579											
DMGDH	29958	broad.mit.edu	37	chr5	78338189	78338189	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaatacgtgataggAccattgacaacattgatgat	10	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	370					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACGTGATAGGACCATTGACAA	0.453																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1108-1110)ggT>ggA		dimethylglycine dehydrogenase							122	111	114					5																	78338189		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78338189A>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1110T>A	5.37:g.78338189A>T						DMGDH_ENST00000380311.4_Silent_p.G169G|DMGDH_ENST00000540686.1_Intron	p.G370G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	7	1138	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	370					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1110T>A	CCDS4044.1																																																																																				0.453	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		60	293	0	0	0	1	0	60	293					T	78338189	A	T	78338189	2	4	79	1	0	0	0	0	0	0	0	1	4597	262	10	5		5	DMGDH	5	78338189	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9601	78338189	102577071	6263	16580											
DMGDH	29958	broad.mit.edu	37	chr5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacaaaagcccatccctttCctgtcggagataatatgatc	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	303					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCATCCCTTTCCTGTCGGAGA	0.443																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(907-909)Gaa>Aaa		dimethylglycine dehydrogenase							131	118	122					5																	78340214		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340214C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.907G>A	5.37:g.78340214C>T	ENSP00000255189:p.Glu303Lys					DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K|DMGDH_ENST00000540686.1_Intron	p.E303K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	935	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	303					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.907G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195254	0.94960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.33865	1.39;1.39;1.39	5.74	4.88	0.63580	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.91140	3.18	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.992	D;P;D	0.74023	0.982;0.897;0.937	T	0.76127	-0.3073	10	0.72032	D	0.01	.	14.797	0.69884	0.0:0.9308:0.0:0.0692	.	102;153;303	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	K	303;142;102;153	ENSP00000255189:E303K;ENSP00000430972:E142K;ENSP00000369667:E102K	ENSP00000255189:E303K	E	-	1	0	DMGDH	78375970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	1.440000	0.47531	0.650000	0.86243	GAA		0.443	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		99	399	0	0	0	1	0	99	399					T	78340214	C	T	78340214	3	4	79	1	0	0	0	0	1	0	0	0	4597	864	30	2	1737	2	DMGDH	5	78340214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2025	78340214	102575046	6264	16581											
DMGDH	29958	broad.mit.edu	37	chr5	78351653	78351653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccagtttcttcttccaGtttctcataaagtttgatgc	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	119					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCTTCTTCCAGTTTCTCATAA	0.353																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(355-357)Ctg>Ttg		dimethylglycine dehydrogenase							93	96	95					5																	78351653		2202	4298	6500	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78351653G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.355C>T	5.37:g.78351653G>A						DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	p.L119L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	3	383	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	119					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.355C>T	CCDS4044.1																																																																																				0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		31	152	0	0	0	1	0	31	152					A	78351653	G	A	78351653	2	1	79	1	0	0	0	0	0	0	0	1	4597	1020	36	2		2	DMGDH	5	78351653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11439	78351653	102563607	6265	16582											
BHMT2	23743	broad.mit.edu	37	chr5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtgacctcgccagGgaagtggctggcaaaggtga	16	10	0	2	rs374403176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000255192.3	+	4	363	c.297G>T	c.(295-297)agG>agT	p.R99S	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	99	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(295-297)agG>agT		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						112	115	114					5																	78376548		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78376548G>T		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.297G>T	5.37:g.78376548G>T	ENSP00000255192:p.Arg99Ser					DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	p.R99S	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	4	363	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	99			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.297G>T	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088877	0.55968	.	.	ENSG00000132840	ENST00000255192;ENST00000518666	T;T	0.40476	1.03;1.03	6.16	1.31	0.21738	Homocysteine S-methyltransferase (4);	0.151545	0.56097	D	0.000024	T	0.45054	0.1323	M	0.79693	2.465	0.80722	D	1	B	0.31519	0.327	B	0.35607	0.206	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.7479	9.095	0.36634	0.6855:0.0:0.3145:0.0	.	99	Q9H2M3	BHMT2_HUMAN	S	99;39	ENSP00000255192:R99S;ENSP00000428640:R39S	ENSP00000255192:R99S	R	+	3	2	BHMT2	78412304	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	1.262000	0.32992	0.123000	0.18342	0.650000	0.86243	AGG		0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		121	526	1	0	1.6185e-62	1	2.03999e-62	121	526					T	78376548	G	T	78376548	3	4	79	1	0	0	0	0	1	0	0	0	1428	1223	43	3	311	3	BHMT2	5	78376548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24895	78376548	102538712	6266	16583											
BHMT	635	broad.mit.edu	37	chr5	78416175	78416175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatactcacccattttagggGcaggaagtcaatgaagctgc	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	96	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(286-288)ggG>ggA		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						50	50	50					5																	78416175		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78416175G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.288G>A	5.37:g.78416175G>A						BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	p.G96G	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	4	395	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	96			Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.288G>A	CCDS4046.1																																																																																				0.383	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		37	149	0	0	0	1	0	37	149					A	78416175	G	A	78416175	2	1	79	1	0	0	0	0	0	0	0	1	1427	1190	42	2		2	BHMT	5	78416175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39627	78416175	102499085	6267	16584											
JMY	133746	broad.mit.edu	37	chr5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagaaggatgttttgagaGaatccttcacacttctaccc	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	945					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2833-2835)Gaa>Taa		junction mediating and regulatory protein, p53 cofactor							89	83	85					5																	78611996		1872	4109	5981	SO:0001587	stop_gained	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78611996G>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2833G>T	5.37:g.78611996G>T	ENSP00000379441:p.Glu945*					JMY_ENST00000412001.1_Intron	p.E945*	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	10	3295	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	945					A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	ENST00000396137.4	37	c.2833G>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	45	11.392913	0.99555	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.65	5.65	0.86999	.	0.393126	0.29631	N	0.011607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.7184	0.96132	0.0:0.0:1.0:0.0	.	.	.	.	X	934;945	.	ENSP00000282259:E934X	E	+	1	0	JMY	78647752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.921000	0.63397	2.672000	0.90937	0.643000	0.83706	GAA		0.413	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		54	168	1	0	1.00221e-16	1	1.10252e-16	54	168					T	78611996	G	T	78611996	4	4	79	1	0	0	0	0	0	1	0	0	7987	943	33	3	2871	3	JMY	5	78611996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195821	78611996	102303264	6268	16585											
HOMER1	9456	broad.mit.edu	37	chr5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattatcaatttcttgttTtaacctttctatttcctaga	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	271					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTTGTTTTAACCTTTCT	0.348																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(811-813)Aaa>Caa		homer homolog 1 (Drosophila)							126	112	117					5																	78692711		1822	4082	5904	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78692711T>G	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.811A>C	5.37:g.78692711T>G	ENSP00000334382:p.Lys271Gln					HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron	p.K271Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	8	2253	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	271					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.811A>C	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675262	0.67928	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.76578	-1.03;3.33;-1.03	5.63	4.46	0.54185	.	0.041017	0.85682	D	0.000000	T	0.76723	0.4027	L	0.29908	0.895	0.51767	D	0.999936	D;B;P	0.63046	0.992;0.029;0.615	P;B;B	0.55923	0.787;0.064;0.269	T	0.78048	-0.2356	10	0.66056	D	0.02	-8.3933	11.4933	0.50394	0.1348:0.0:0.0:0.8652	.	97;141;271	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	Q	271;141;97	ENSP00000334382:K271Q;ENSP00000282260:K141Q;ENSP00000441587:K97Q	ENSP00000282260:K141Q	K	-	1	0	HOMER1	78728467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	1.046000	0.40249	0.533000	0.62120	AAA		0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		25	97	0	0	0	1	0	25	97					G	78692711	T	G	78692711	3	3	79	1	0	0	0	0	1	0	0	0	7308	1850	64	4	261	4	HOMER1	5	78692711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80715	78692711	102222549	6269	16586											
CMYA5	202333	broad.mit.edu	37	chr5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attctaatttagtagaagaaGagatcgtagaacttgattac	8	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	530	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAGAAGAAGAGATCGTAGA	0.418																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1588-1590)Gag>Aag		cardiomyopathy associated 5							107	103	104					5																	79026176		1853	4096	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026176G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1588G>A	5.37:g.79026176G>A	ENSP00000394770:p.Glu530Lys						p.E530K	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1619	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	530			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1588G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.63913	-0.07	5.8	5.8	0.92144	.	0.468598	0.18174	N	0.149369	T	0.61223	0.2330	L	0.36672	1.1	0.26789	N	0.969444	P	0.49253	0.921	P	0.49451	0.611	T	0.60332	-0.7284	10	0.87932	D	0	.	12.5436	0.56186	0.0759:0.0:0.9241:0.0	.	530	Q8N3K9	CMYA5_HUMAN	K	530	ENSP00000394770:E530K	ENSP00000394770:E530K	E	+	1	0	CMYA5	79061932	0.821000	0.29204	0.992000	0.48379	0.523000	0.34469	1.409000	0.34680	2.758000	0.94735	0.563000	0.77884	GAG		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		126	468	0	0	0	1	0	126	468					A	79026176	G	A	79026176	3	1	79	1	0	0	0	0	1	0	0	0	3599	943	33	2	1594	2	CMYA5	5	79026176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333465	79026176	101889084	6270	16587											
CMYA5	202333	broad.mit.edu	37	chr5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctctctctcaccatccAcaaccgaaaagacttctgaa	4	16	3	2	rs369615786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	758					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCACCATCCACAACCGAAAA	0.502																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2272-2274)Aca>Gca		cardiomyopathy associated 5							71	71	71					5																	79026860		2021	4195	6216	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026860A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2272A>G	5.37:g.79026860A>G	ENSP00000394770:p.Thr758Ala						p.T758A	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2303	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	758					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2272A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189741	0.38707	.	.	ENSG00000164309	ENST00000446378	T	0.38240	1.15	5.41	-3.34	0.04943	.	0.323199	0.22299	N	0.061897	T	0.26919	0.0659	L	0.58583	1.82	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.17745	-1.0359	10	0.38643	T	0.18	.	7.2841	0.26328	0.2766:0.5002:0.2232:0.0	.	758	Q8N3K9	CMYA5_HUMAN	A	758	ENSP00000394770:T758A	ENSP00000394770:T758A	T	+	1	0	CMYA5	79062616	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.654000	0.05354	-0.459000	0.07013	-0.263000	0.10527	ACA		0.502	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		68	311	0	0	0	1	0	68	311					G	79026860	A	G	79026860	3	3	79	1	0	0	0	0	1	0	0	0	3599	159	6	4	2278	4	CMYA5	5	79026860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684	79026860	101888400	6271	16588											
CMYA5	202333	broad.mit.edu	37	chr5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatgttgctttggcagaGctgtctttggaacctgagaa	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1617					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTGGCAGAGCTGTCTTTGG	0.443																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4849-4851)gaG>gaT		cardiomyopathy associated 5							95	96	96					5																	79029439		1871	4105	5976	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029439G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4851G>T	5.37:g.79029439G>T	ENSP00000394770:p.Glu1617Asp						p.E1617D	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4882	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1617					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4851G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079586	0.36662	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.08	-2.29	0.06805	.	1.025470	0.07765	N	0.950714	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.19946	0.027	T	0.47598	-0.9105	10	0.72032	D	0.01	.	0.5008	0.00579	0.2705:0.1329:0.326:0.2706	.	1617	Q8N3K9	CMYA5_HUMAN	D	1617	ENSP00000394770:E1617D	ENSP00000394770:E1617D	E	+	3	2	CMYA5	79065195	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-0.064000	0.13043	-0.140000	0.14226	GAG		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		109	405	1	0	4.73232e-52	1	5.88258e-52	109	405					T	79029439	G	T	79029439	3	4	79	1	0	0	0	0	1	0	0	0	3599	962	34	3	4857	3	CMYA5	5	79029439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2579	79029439	101885821	6272	16589											
CMYA5	202333	broad.mit.edu	37	chr5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaatggttcagtcaaAggttattgatgatgctgatg	10	4	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2111					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTCAAAGGTTATTGAT	0.433																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6331-6333)aAg>aCg		cardiomyopathy associated 5							58	56	57					5																	79030920		1895	4120	6015	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030920A>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6332A>C	5.37:g.79030920A>C	ENSP00000394770:p.Lys2111Thr						p.K2111T	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2111					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6332A>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	8.762	0.923752	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.94	4.78	0.61160	.	0.119868	0.37761	N	0.001947	T	0.12220	0.0297	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.48304	0.573	T	0.10382	-1.0632	10	0.72032	D	0.01	.	8.7785	0.34776	0.9151:0.0:0.0849:0.0	.	2111	Q8N3K9	CMYA5_HUMAN	T	2111	ENSP00000394770:K2111T	ENSP00000394770:K2111T	K	+	2	0	CMYA5	79066676	0.242000	0.23868	0.023000	0.16930	0.061000	0.15899	3.126000	0.50477	1.069000	0.40788	0.528000	0.53228	AAG		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		67	237	0	0	0	1	0	67	237					C	79030920	A	C	79030920	3	2	79	1	0	0	0	0	1	0	0	0	3599	72	3	4	6338	4	CMYA5	5	79030920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1481	79030920	101884340	6273	16590											
CMYA5	202333	broad.mit.edu	37	chr5	79031203	79031203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagacttagaaacacaGccaagtccatccgtagaaaa	7	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2205					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAACACAGCCAAGTCCAT	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6613-6615)caG>caA		cardiomyopathy associated 5							104	102	103					5																	79031203		1887	4113	6000	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79031203G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6615G>A	5.37:g.79031203G>A							p.Q2205Q	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6646	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2205					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.6615G>A	CCDS47238.1																																																																																				0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		124	496	0	0	0	1	0	124	496					A	79031203	G	A	79031203	2	1	79	1	0	0	0	0	0	0	0	1	3599	962	34	2		2	CMYA5	5	79031203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283	79031203	101884057	6274	16591											
CMYA5	202333	broad.mit.edu	37	chr5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctatcaaaatgaagactAcaatgaaagacccaaaatca	4	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2523					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAAGACTACAATGAAAGA	0.373																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7567-7569)tAc>tGc		cardiomyopathy associated 5							63	60	61					5																	79032156		1854	4095	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032156A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7568A>G	5.37:g.79032156A>G	ENSP00000394770:p.Tyr2523Cys						p.Y2523C	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7599	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2523					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7568A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.166	0.216253	0.09810	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.99	4.81	0.61882	.	1.389500	0.04363	N	0.357746	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16041	-1.0416	10	0.35671	T	0.21	.	6.6843	0.23136	0.6888:0.1537:0.0:0.1575	.	2523	Q8N3K9	CMYA5_HUMAN	C	2523	ENSP00000394770:Y2523C	ENSP00000394770:Y2523C	Y	+	2	0	CMYA5	79067912	0.024000	0.19004	0.947000	0.38551	0.017000	0.09413	2.820000	0.48057	1.045000	0.40225	0.533000	0.62120	TAC		0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		37	146	0	0	0	1	0	37	146					G	79032156	A	G	79032156	3	3	79	1	0	0	0	0	1	0	0	0	3599	391	14	4	7574	4	CMYA5	5	79032156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	953	79032156	101883104	6275	16592											
CMYA5	202333	broad.mit.edu	37	chr5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacattctccatgacacatCtctaactcaaaaggaccagg	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3252					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGACACATCTCTAACTCAA	0.423																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(9754-9756)tCt>tAt		cardiomyopathy associated 5							78	76	77					5																	79034343		1891	4117	6008	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034343C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9755C>A	5.37:g.79034343C>A	ENSP00000394770:p.Ser3252Tyr						p.S3252Y	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	9786	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3252					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.9755C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450866	0.43531	.	.	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.78	4.9	0.64082	.	0.275088	0.26428	N	0.024434	T	0.39253	0.1071	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.40590	-0.9555	10	0.87932	D	0	.	4.5866	0.12285	0.1603:0.602:0.1544:0.0834	.	3252	Q8N3K9	CMYA5_HUMAN	Y	3252	ENSP00000394770:S3252Y	ENSP00000394770:S3252Y	S	+	2	0	CMYA5	79070099	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.886000	0.28241	1.426000	0.47256	0.655000	0.94253	TCT		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		37	210	1	0	1.59361e-14	1	1.73214e-14	37	210					A	79034343	C	A	79034343	3	1	79	1	0	0	0	0	1	0	0	0	3599	913	32	3	9761	3	CMYA5	5	79034343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2187	79034343	101880917	6276	16593											
CMYA5	202333	broad.mit.edu	37	chr5	79034527	79034527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagaccatgtggagacCgttggtaacgtagcgatgca	13	8	1	2	rs373289361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3313					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGGAGACCGTTGGTAACG	0.468																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(9937-9939)acC>acT		cardiomyopathy associated 5							110	112	111					5																	79034527		2037	4187	6224	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79034527C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9939C>T	5.37:g.79034527C>T							p.T3313T	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	9970	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3313					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.9939C>T	CCDS47238.1																																																																																				0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		76	351	0	0	0	1	0	76	351					T	79034527	C	T	79034527	2	4	79	1	0	0	0	0	0	0	0	1	3599	639	23	1		1	CMYA5	5	79034527	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184	79034527	101880733	6277	16594											
THBS4	7060	broad.mit.edu	37	chr5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccagagaacgcagagGtcaccctgaccgacttcagg	11	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000350881.2	+	17	2363	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	725					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2173-2175)Gtc>Atc		thrombospondin 4							100	79	86					5																	79373958		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79373958G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2173G>A	5.37:g.79373958G>A	ENSP00000339730:p.Val725Ile					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	p.V725I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	17	2363	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	725					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2173G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216344	0.09810	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98234	-4.81;-4.81	5.23	3.34	0.38264	.	0.181790	0.49305	N	0.000147	D	0.91680	0.7370	N	0.11756	0.17	0.31040	N	0.716376	B	0.02656	0.0	B	0.04013	0.001	D	0.83962	0.0322	10	0.02654	T	1	-21.7943	5.9809	0.19407	0.5442:0.0:0.4558:0.0	.	725	P35443	TSP4_HUMAN	I	725;634	ENSP00000339730:V725I;ENSP00000422298:V634I	ENSP00000339730:V725I	V	+	1	0	THBS4	79409714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.753000	0.38359	0.780000	0.33566	0.655000	0.94253	GTC		0.592	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			18	100	0	0	0	1	0	18	100					A	79373958	G	A	79373958	3	1	79	1	0	0	0	0	1	0	0	0	15908	1261	44	2	2239	2	THBS4	5	79373958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339431	79373958	101541302	6278	16595											
SPZ1	84654	broad.mit.edu	37	chr5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaggtgaagaaactgaGccatgacacctattcattgc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	311	Leucine-zipper.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAACTGAGCCATGACACC	0.433																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(931-933)aGc>aAc		spermatogenic leucine zipper 1							124	121	122					5																	79616966		1928	4132	6060	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616966G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.932G>A	5.37:g.79616966G>A	ENSP00000369611:p.Ser311Asn						p.S311N	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1177	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	311			Leucine-zipper.		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.932G>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.083	0.383628	0.11524	.	.	ENSG00000164299	ENST00000296739	T	0.30714	1.52	4.4	0.319	0.15873	.	1.382680	0.04413	N	0.366357	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22906	-1.0203	10	0.27082	T	0.32	-10.4049	7.5922	0.28027	0.6711:0.0:0.3289:0.0	.	311	Q9BXG8	SPZ1_HUMAN	N	311	ENSP00000369611:S311N	ENSP00000369611:S311N	S	+	2	0	SPZ1	79652722	0.014000	0.17966	0.000000	0.03702	0.007000	0.05969	0.609000	0.24238	0.051000	0.15978	-0.262000	0.10625	AGC		0.433	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		85	413	0	0	0	1	0	85	413					A	79616966	G	A	79616966	3	1	79	1	0	0	0	0	1	0	0	0	15179	971	34	2	934	2	SPZ1	5	79616966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243008	79616966	101298294	6279	16596											
ZFYVE16	9765	broad.mit.edu	37	chr5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcctcatcagaaacaaGctatggaacaaatgagagtt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	72					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)			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)		TCAGAAACAAGCTATGGAACA	0.393																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(214-216)aGc>aTc		zinc finger, FYVE domain containing 16							71	69	70					5																	79732719		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.chr5:79732719G>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.215G>T	5.37:g.79732719G>T	ENSP00000337159:p.Ser72Ile					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	p.S72I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	395	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	72					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.215G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36699	1.24;1.24;1.24	5.31	4.36	0.52297	.	0.596060	0.16043	N	0.232353	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.10520	-1.0626	10	0.25751	T	0.34	-0.7589	7.1536	0.25624	0.0:0.1395:0.5735:0.2871	.	72;72	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	72	ENSP00000337159:S72I;ENSP00000423663:S72I;ENSP00000426848:S72I	ENSP00000337159:S72I	S	+	2	0	ZFYVE16	79768475	0.090000	0.21635	0.945000	0.38365	0.222000	0.24845	1.340000	0.33896	2.489000	0.83994	0.467000	0.42956	AGC		0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		71	315	1	0	1.55545e-33	1	1.84439e-33	71	315					T	79732719	G	T	79732719	3	4	79	1	0	0	0	0	1	0	0	0	17717	971	34	3	221	3	ZFYVE16	5	79732719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115753	79732719	101182541	6280	16597											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaagactcaaaaagtttaGaccttaaggataatgatgta	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	350					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)			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)		AAAAAGTTTAGACCTTAAGGA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(1048-1050)Gac>Tac		zinc finger, FYVE domain containing 16							115	110	112					5																	79733552		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.chr5:79733552G>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.1048G>T	5.37:g.79733552G>T	ENSP00000337159:p.Asp350Tyr					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	p.D350Y	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1228	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	350					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1048G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173172	0.21704	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.1	4.21	0.49690	.	0.363134	0.23307	N	0.049620	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.944;0.996	P;P	0.59703	0.835;0.862	T	0.24799	-1.0150	10	0.52906	T	0.07	-0.1643	8.6938	0.34282	0.0835:0.1541:0.7624:0.0	.	350;350	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	350	ENSP00000337159:D350Y;ENSP00000423663:D350Y;ENSP00000426848:D350Y	ENSP00000337159:D350Y	D	+	1	0	ZFYVE16	79769308	0.641000	0.27251	0.025000	0.17156	0.104000	0.19210	1.474000	0.35398	1.229000	0.43630	0.563000	0.77884	GAC		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		89	322	1	0	1.42074e-37	1	1.70676e-37	89	322					T	79733552	G	T	79733552	3	4	79	1	0	0	0	0	1	0	0	0	17717	942	33	3	1054	3	ZFYVE16	5	79733552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	833	79733552	101181708	6281	16598											
ZFYVE16	9765	broad.mit.edu	37	chr5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtactactgtccagcCtcctcaggagaaccaaacat	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	834					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)			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)		ACTGTCCAGCCTCCTCAGGAG	0.408																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(2500-2502)cCt>cTt		zinc finger, FYVE domain containing 16							112	103	106					5																	79739023		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.chr5:79739023C>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.2501C>T	5.37:g.79739023C>T	ENSP00000337159:p.Pro834Leu					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	p.P834L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	5	2681	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	834					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2501C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506311	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49720	0.77;0.77;0.77	5.49	3.65	0.41850	.	0.232813	0.30356	N	0.009813	T	0.50531	0.1621	M	0.81497	2.545	0.58432	D	0.99999	B	0.23854	0.092	B	0.27262	0.078	T	0.56068	-0.8040	10	0.66056	D	0.02	-4.4467	10.7346	0.46117	0.0:0.7961:0.1318:0.0721	.	834	Q7Z3T8	ZFY16_HUMAN	L	834	ENSP00000337159:P834L;ENSP00000423663:P834L;ENSP00000426848:P834L	ENSP00000337159:P834L	P	+	2	0	ZFYVE16	79774779	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	3.530000	0.53539	1.334000	0.45468	0.650000	0.86243	CCT		0.408	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		39	296	0	0	0	1	0	39	296					T	79739023	C	T	79739023	3	4	79	1	0	0	0	0	1	0	0	0	17717	681	24	2	2515	2	ZFYVE16	5	79739023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5471	79739023	101176237	6282	16599											
ZFYVE16	9765	broad.mit.edu	37	chr5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcccattctactacagtgGaaaagccaaacaatgagaca	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	922					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)			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)		TACTACAGTGGAAAAGCCAAA	0.328																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(2764-2766)Gaa>Taa		zinc finger, FYVE domain containing 16							78	76	77					5																	79743884		2203	4300	6503	SO:0001587	stop_gained	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.chr5:79743884G>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.2764G>T	5.37:g.79743884G>T	ENSP00000337159:p.Glu922*					ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	p.E922*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	2944	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	922					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	c.2764G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	40	8.124485	0.98665	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.43	3.58	0.41010	.	0.207974	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.612	6.9264	0.24418	0.14:0.1602:0.6998:0.0	.	.	.	.	X	922	.	ENSP00000337159:E922X	E	+	1	0	ZFYVE16	79779640	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.353000	0.34045	1.396000	0.46663	0.650000	0.86243	GAA		0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		55	244	1	0	1.0442e-30	1	1.22599e-30	55	244					T	79743884	G	T	79743884	4	4	79	1	0	0	0	0	0	1	0	0	17717	1175	41	3	2786	3	ZFYVE16	5	79743884	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4861	79743884	101171376	6283	16600											
ZFYVE16	9765	broad.mit.edu	37	chr5	79744105	79744105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttacctattgctagtatTtcagattataggttactgtg	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000510158.1_Silent_p.I995I|ZFYVE16_ENST00000505560.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	995					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)			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)		TTGCTAGTATTTCAGATTATA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				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						c.(2983-2985)atT>atC		zinc finger, FYVE domain containing 16							89	85	86					5																	79744105		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:79744105T>C	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.2985T>C	5.37:g.79744105T>C						ZFYVE16_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	p.I995I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	3165	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	995					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Silent	SNP	ENST00000338008.5	37	c.2985T>C	CCDS4050.1																																																																																				0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		45	214	0	0	0	1	0	45	214					C	79744105	T	C	79744105	2	2	79	1	0	0	0	0	0	0	0	1	17717	1829	64	4		4	ZFYVE16	5	79744105	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	221	79744105	101171155	6284	16601											
FAM151B	167555	broad.mit.edu	37	chr5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggactggaaaaaatgataaCtattccgttgaagatttact	8	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAATGATAACTATTCCGTTG	0.323																																						ENST00000282226.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7						c.(706-708)aaC>aaA		family with sequence similarity 151, member B							69	71	70					5																	79837528		2203	4297	6500	SO:0001583	missense	167555							g.chr5:79837528C>A		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.708C>A	5.37:g.79837528C>A	ENSP00000282226:p.Asn236Lys					FAM151B_ENST00000511718.1_3'UTR	p.N236K	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)	6	863	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	236					A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	37	c.708C>A	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530438	0.27387	.	.	ENSG00000152380	ENST00000282226	T	0.10573	2.86	5.74	1.3	0.21679	.	0.850415	0.10963	N	0.614717	T	0.04588	0.0125	N	0.05383	-0.06	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-11.1392	3.0276	0.06096	0.4643:0.3169:0.1262:0.0925	.	236	Q6UXP7	F151B_HUMAN	K	236	ENSP00000282226:N236K	ENSP00000282226:N236K	N	+	3	2	FAM151B	79873284	0.998000	0.40836	0.984000	0.44739	0.991000	0.79684	0.862000	0.27899	0.296000	0.22592	0.585000	0.79938	AAC		0.323	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548		44	191	1	0	7.90463e-13	1	8.50842e-13	44	191					A	79837528	C	A	79837528	3	1	79	1	0	0	0	0	1	0	0	0	5480	564	20	3	730	3	FAM151B	5	79837528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93423	79837528	101077732	6285	16602											
DHFR	1719	broad.mit.edu	37	chr5	79924945	79924945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaatttgtacttaatGcctttctcctcctggacatc	4	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000505337.1_Silent_p.G175G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(523-525)ggC>ggT		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						23	21	22					5																	79924945		1867	4122	5989	SO:0001819	synonymous_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79924945G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.525C>T	5.37:g.79924945G>A						DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000513048.1_5'UTR	p.G175G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	6	1018	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	175			DHFR.		B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	c.525C>T	CCDS47240.1																																																																																				0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		29	100	0	0	0	1	0	29	100					A	79924945	G	A	79924945	2	1	79	1	0	0	0	0	0	0	0	1	4497	1306	46	2		2	DHFR	5	79924945	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87417	79924945	100990315	6286	16603											
DHFR	1719	broad.mit.edu	37	chr5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattctaccctttaaaggtcGattcttctcaggaatggaga	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	66	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(196-198)Cga>Tga		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						74	73	74					5																	79945254		2103	4258	6361	SO:0001587	stop_gained	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945254G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.196C>T	5.37:g.79945254G>A	ENSP00000396308:p.Arg66*					DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000513048.1_5'UTR	p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	689	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	66			DHFR.		B4DDD2|Q14130|Q6IRW8	Nonsense_Mutation	SNP	ENST00000439211.2	37	c.196C>T	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472449	0.96274	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	.	.	.	5.41	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.8828	11.9172	0.52771	0.0:0.0:0.6481:0.3519	.	.	.	.	X	66;66;66;14	.	.	R	-	1	2	DHFR	79981010	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.417000	0.44653	1.209000	0.43321	0.557000	0.71058	CGA		0.348	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		61	270	0	0	0	1	0	61	270					A	79945254	G	A	79945254	4	1	79	1	0	0	0	0	0	1	0	0	4497	1066	37	1	383	1	DHFR	5	79945254	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20309	79945254	100970006	6287	16604											
MSH3	4437	broad.mit.edu	37	chr5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcatttgcaagaaataCgaaaaatactaaaaaatcct	5	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	734					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAAGAAATACGAAAAATACT	0.318								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2200-2202)Cga>Tga	Mismatch excision repair (MMR)	mutS homolog 3							71	72	72					5																	80064769		2203	4297	6500	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80064769C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2200C>T	5.37:g.80064769C>T	ENSP00000265081:p.Arg734*						p.R734*	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	15	2280	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	734					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.2200C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	38	6.671255	0.97751	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.51	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0063	13.3788	0.60757	0.3993:0.6007:0.0:0.0	.	.	.	.	X	734;725	.	.	R	+	1	2	MSH3	80100525	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.573000	0.46007	0.077000	0.16863	-1.378000	0.01179	CGA		0.318	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		50	198	0	0	0	1	0	50	198					T	80064769	C	T	80064769	4	4	79	1	0	0	0	0	0	1	0	0	9912	528	19	1	2258	1	MSH3	5	80064769	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119515	80064769	100850491	6288	16605											
MSH3	4437	broad.mit.edu	37	chr5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaagcaacatcacaGtccttggttatcttggatga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	969					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAACATCACAGTCCTTGGTTA	0.403								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2905-2907)caG>caT	Mismatch excision repair (MMR)	mutS homolog 3							137	125	129					5																	80150042		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80150042G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2907G>T	5.37:g.80150042G>T	ENSP00000265081:p.Gln969His						p.Q969H	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	21	2987	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	969					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2907G>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795617	0.31777	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85171	-1.95	5.25	3.12	0.35913	DNA mismatch repair protein MutS, C-terminal (2);	0.163440	0.53938	D	0.000043	T	0.64000	0.2559	N	0.04994	-0.135	0.33381	D	0.574795	B	0.16166	0.016	B	0.19946	0.027	T	0.58607	-0.7607	9	.	.	.	-2.5097	4.2003	0.10462	0.1322:0.1499:0.5656:0.1523	.	969	P20585	MSH3_HUMAN	H	969;960	ENSP00000265081:Q969H	.	Q	+	3	2	MSH3	80185798	0.868000	0.29978	0.963000	0.40424	0.938000	0.57974	0.101000	0.15251	1.169000	0.42739	0.655000	0.94253	CAG		0.403	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		94	363	1	0	2.18907e-53	1	2.72816e-53	94	363					T	80150042	G	T	80150042	3	4	79	1	0	0	0	0	1	0	0	0	9912	1020	36	3	2989	3	MSH3	5	80150042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85273	80150042	100765218	6289	16606											
RASGRF2	5924	broad.mit.edu	37	chr5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacagtgtgtggacaatAtacgatgtaatggtttaatg	10	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	590					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGACAATATACGATGTAA	0.338																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1768-1770)Ata>Gta		Ras protein-specific guanine nucleotide-releasing factor 2							167	159	162					5																	80404827		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80404827A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1768A>G	5.37:g.80404827A>G	ENSP00000265080:p.Ile590Val						p.I590V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	13	1835	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	590					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1768A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066701	0.55539	.	.	ENSG00000113319	ENST00000265080	T	0.53857	0.6	5.67	5.67	0.87782	Pleckstrin homology domain (1);	0.040419	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42487	1.325	0.54753	D	0.999984	B	0.28605	0.217	B	0.31547	0.132	T	0.38887	-0.9640	10	0.27082	T	0.32	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	590	O14827	RGRF2_HUMAN	V	590	ENSP00000265080:I590V	ENSP00000265080:I590V	I	+	1	0	RASGRF2	80440583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.165000	0.68154	0.454000	0.30748	ATA		0.338	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		47	229	0	0	0	1	0	47	229					G	80404827	A	G	80404827	3	3	79	1	0	0	0	0	1	0	0	0	13123	449	16	4	1818	4	RASGRF2	5	80404827	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254785	80404827	100510433	6290	16607											
CKMT2	1160	broad.mit.edu	37	chr5	80550874	80550874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgcgcactggccgcagCatccgtgggctgagcctgcc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	170	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(508-510)agC>agT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						49	48	49					5																	80550874		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550874C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.510C>T	5.37:g.80550874C>T						CKMT2_ENST00000437669.1_Silent_p.S170S|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA	p.S170S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	6	748	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	170			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.510C>T	CCDS4053.1																																																																																				0.662	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		68	299	0	0	0	1	0	68	299					T	80550874	C	T	80550874	2	4	79	1	0	0	0	0	0	0	0	1	3460	709	25	2		2	CKMT2	5	80550874	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146047	80550874	100364386	6291	16608											
CKMT2	1160	broad.mit.edu	37	chr5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcagtttggcaaaaaGtaaactttccctttcccaat	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	419					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1255-1257)aaG>aaT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						126	130	129					5																	80562074		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80562074G>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1257G>T	5.37:g.80562074G>T	ENSP00000404203:p.Lys419Asn					CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA	p.K419N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	11	1495	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	419					Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1257G>T	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673184	0.29693	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.25085	1.82;1.82;1.82	5.52	5.52	0.82312	.	0.075433	0.56097	D	0.000029	T	0.16171	0.0389	N	0.19112	0.55	0.38709	D	0.953176	B	0.24258	0.1	B	0.15484	0.013	T	0.05484	-1.0882	10	0.72032	D	0.01	-16.8663	9.233	0.37448	0.0825:0.1483:0.7692:0.0	.	419	P17540	KCRS_HUMAN	N	419	ENSP00000254035:K419N;ENSP00000410289:K419N;ENSP00000404203:K419N	ENSP00000254035:K419N	K	+	3	2	CKMT2	80597830	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	1.038000	0.30254	2.762000	0.94881	0.650000	0.86243	AAG		0.383	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		91	446	1	0	1.59228e-47	1	1.96063e-47	91	446					T	80562074	G	T	80562074	3	4	79	1	0	0	0	0	1	0	0	0	3460	1020	36	3	1291	3	CKMT2	5	80562074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11200	80562074	100353186	6292	16609											
ACOT12	134526	broad.mit.edu	37	chr5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatcttcatgttgtaatcGaactttccttctctcagcag	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R147*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313																																						ENST00000307624.3																			1	Substitution - Nonsense(1)	p.R147*(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(439-441)Cga>Tga		acyl-CoA thioesterase 12							132	129	130					5																	80655779		2203	4300	6503	SO:0001587	stop_gained	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80655779G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.439C>T	5.37:g.80655779G>A	ENSP00000303246:p.Arg147*					ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	467	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	147					B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	c.439C>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9079	13.1836	0.59668	0.0:0.0:0.7144:0.2856	.	.	.	.	X	147	.	ENSP00000303246:R147X	R	-	1	2	ACOT12	80691535	1.000000	0.71417	0.958000	0.39756	0.533000	0.34776	2.560000	0.45896	1.203000	0.43233	0.655000	0.94253	CGA		0.313	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		63	239	0	0	0	1	0	63	239					A	80655779	G	A	80655779	4	1	79	1	0	0	0	0	0	1	0	0	150	1066	37	1	1272	1	ACOT12	5	80655779	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93705	80655779	100259481	6293	16610											
SSBP2	23635	broad.mit.edu	37	chr5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcattccaggcattccaGggccacctaaagcattcagt	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(616-618)cCt>cAt		single-stranded DNA binding protein 2							86	81	82					5																	80762814		2203	4300	6503	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80762814G>T	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.617C>A	5.37:g.80762814G>T	ENSP00000322977:p.Pro206His					SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H	p.P206H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	9	827	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	206			Gly-rich.|Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.617C>A	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731941	0.89390	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.968;0.964;0.968;0.998;0.999	T	0.81988	-0.0680	9	0.54805	T	0.06	-1.6827	20.6721	0.99693	0.0:0.0:1.0:0.0	.	176;184;186;159;184;206	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	H	206;176;176;159;120;112;186;184;202	.	ENSP00000322977:P206H	P	-	2	0	SSBP2	80798570	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	8.734000	0.91543	2.894000	0.99253	0.591000	0.81541	CCT		0.338	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		67	288	1	0	2.0493e-37	1	2.46103e-37	67	288					T	80762814	G	T	80762814	3	4	79	1	0	0	0	0	1	0	0	0	15232	1000	35	3	504	3	SSBP2	5	80762814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107035	80762814	100152446	6294	16611											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608455	81608455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttaccaattacaacaagTtgtccatccagagttggttt	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	53					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(157-159)Ttg>Ctg		ATPase, H+ transporting, lysosomal accessory protein 1-like							176	172	173					5																	81608455		2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608455T>C	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.157T>C	5.37:g.81608455T>C			OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L	p.L53L			Q52LC2	VAS1L_HUMAN			9	1482	+			53						Silent	SNP	ENST00000380167.4	37	c.157T>C	CCDS34196.1																																																																																				0.418	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		143	626	0	0	0	1	0	143	626					C	81608455	T	C	81608455	2	2	79	1	0	0	0	0	0	0	0	1	1167	1722	60	4		4	ATP6AP1L	5	81608455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	845641	81608455	99306805	6295	16612											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613867	81613867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccaaagcccaagactgCgcctcctccttctcgccagc	6	18	1	1	rs371506768		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547																																						ENST00000380167.4																			1	Substitution - coding silent(1)	p.C141C(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(421-423)tgC>tgT		ATPase, H+ transporting, lysosomal accessory protein 1-like		C		0,4406		0,0,2203	97	84	89		423	-6.3	0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81613867C>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	5.37:g.81613867C>T						ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C	p.C141C			Q52LC2	VAS1L_HUMAN			10	1748	+			141						Silent	SNP	ENST00000380167.4	37	c.423C>T	CCDS34196.1																																																																																				0.547	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		57	273	0	0	0	1	0	57	273					T	81613867	C	T	81613867	2	4	79	1	0	0	0	0	0	0	0	1	1167	776	27	1		1	ATP6AP1L	5	81613867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	81613867	99301393	6296	16613											
VCAN	1462	broad.mit.edu	37	chr5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcataaatataaagaGcatcttatggatgtgttcaa	8	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000513984.1_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	7					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)			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)	AATATAAAGAGCATCTTATGG	0.323																																						ENST00000265077.3																			0				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						c.(19-21)aGc>aTc		versican							122	117	119					5																	82779357		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.chr5:82779357G>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.20G>T	5.37:g.82779357G>T	ENSP00000265077:p.Ser7Ile					VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I	p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	2	585	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	7					P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.20G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824873	0.71143	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;T;T;D	0.86097	-1.99;-1.92;-2.07;3.23;2.94;-1.89	5.35	4.45	0.53987	.	0.194776	0.36134	N	0.002767	D	0.87641	0.6228	L	0.60455	1.87	0.23559	N	0.997417	D;B;P;D;B	0.58970	0.984;0.01;0.728;0.981;0.167	P;B;B;P;B	0.58721	0.844;0.009;0.25;0.716;0.042	T	0.79037	-0.1967	10	0.22706	T	0.39	.	12.4398	0.55619	0.0:0.0:0.8321:0.1679	.	7;7;7;7;7	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	I	7	ENSP00000265077:S7I;ENSP00000340062:S7I;ENSP00000342768:S7I;ENSP00000426251:S7I;ENSP00000426715:S7I;ENSP00000421362:S7I	ENSP00000265077:S7I	S	+	2	0	VCAN	82815113	1.000000	0.71417	0.980000	0.43619	0.768000	0.43524	2.325000	0.43840	1.182000	0.42928	0.591000	0.81541	AGC		0.323	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		34	180	1	0	3.76114e-14	1	4.07806e-14	34	180					T	82779357	G	T	82779357	3	4	79	1	0	0	0	0	1	0	0	0	17192	971	34	3	22	3	VCAN	5	82779357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165490	82779357	98135903	6297	16614											
VCAN	1462	broad.mit.edu	37	chr5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgatgcgggtctttaccGctgtgacgtcatgtacggga	14	8	2	2	rs370476323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000513984.1_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	129	Ig-like V-type.				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)			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)	GGTCTTTACCGCTGTGACGTC	0.517																																						ENST00000265077.3																			0				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						c.(385-387)cGc>cAc		versican		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	146	140	142		386,386,386,386	5.7	1	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	129/656,129/2410,129/1643,129/3397	82786232	1,13005	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.chr5:82786232G>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.386G>A	5.37:g.82786232G>A	ENSP00000265077:p.Arg129His					VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H	p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	951	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	129			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.386G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462761	0.84425	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80618	0.4657	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.924;0.999;1.0;0.986	T	0.81693	-0.0817	10	0.87932	D	0	.	19.9058	0.97007	0.0:0.0:1.0:0.0	.	129;129;129;129;129	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	129;129;129;81;129;129;129	ENSP00000265077:R129H;ENSP00000340062:R129H;ENSP00000342768:R129H;ENSP00000425959:R81H;ENSP00000426251:R129H;ENSP00000426715:R129H;ENSP00000421362:R129H	ENSP00000265077:R129H	R	+	2	0	VCAN	82821988	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.161000	0.71868	2.716000	0.92895	0.561000	0.74099	CGC		0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		103	388	0	0	0	1	0	103	388					A	82786232	G	A	82786232	3	1	79	1	0	0	0	0	1	0	0	0	17192	1087	38	1	392	1	VCAN	5	82786232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6875	82786232	98129028	6298	16615											
VCAN	1462	broad.mit.edu	37	chr5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggacttatggattccGttctccccaggaaacttacg	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000513984.1_Missense_Mutation_p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	233	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)			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)	TATGGATTCCGTTCTCCCCAG	0.438																																						ENST00000265077.3																			0				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						c.(697-699)cGt>cAt		versican							212	193	200					5																	82789700		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.chr5:82789700G>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.698G>A	5.37:g.82789700G>A	ENSP00000265077:p.Arg233His					VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H	p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	5	1263	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	233			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.698G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405481	0.96051	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.97	5.97	0.96955	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.56108	0.1963	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.998	T	0.70324	-0.4903	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	233;233;233;233;233	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	233;233;233;185;233;233;233	ENSP00000265077:R233H;ENSP00000340062:R233H;ENSP00000342768:R233H;ENSP00000425959:R185H;ENSP00000426251:R233H;ENSP00000426715:R233H;ENSP00000421362:R233H	ENSP00000265077:R233H	R	+	2	0	VCAN	82825456	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		121	489	0	0	0	1	0	121	489					A	82789700	G	A	82789700	3	1	79	1	0	0	0	0	1	0	0	0	17192	1145	40	1	712	1	VCAN	5	82789700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	82789700	98125560	6299	16616											
VCAN	1462	broad.mit.edu	37	chr5	82817768	82817768	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgccttcagttcagtaGacagacttcacacaacttca	5	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82817768G>A	ENST00000265077.3	+	7	4208	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1215	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)			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)	CAGTTCAGTAGACAGACTTCA	0.428																																						ENST00000265077.3																			0				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						c.(3643-3645)Gac>Aac		versican							150	146	147					5																	82817768		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.chr5:82817768G>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.3643G>A	5.37:g.82817768G>A	ENSP00000265077:p.Asp1215Asn					VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000343200.5_Intron	p.D1215N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4208	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1215			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3643G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219422	0.39201	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.90788	-2.73;-2.63;-2.68	5.65	5.65	0.86999	.	0.092595	0.47093	D	0.000260	D	0.93038	0.7784	M	0.61703	1.905	0.45995	D	0.998803	D;D	0.59767	0.959;0.986	P;P	0.53266	0.647;0.722	D	0.93361	0.6727	10	0.72032	D	0.01	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	1215;1215	P13611-3;P13611	.;CSPG2_HUMAN	N	1215;1215;1167	ENSP00000265077:D1215N;ENSP00000342768:D1215N;ENSP00000425959:D1167N	ENSP00000265077:D1215N	D	+	1	0	VCAN	82853524	1.000000	0.71417	0.166000	0.22797	0.069000	0.16628	4.957000	0.63652	2.665000	0.90641	0.585000	0.79938	GAC		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	619	0	0	0	1	0	12	619					A	82817768	G	A	82817768	3	1	79	1	0	0	0	0	1	0	0	0	17192	942	33	2	3665	2	VCAN	5	82817768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28068	82817768	98097492	6300	16617											
VCAN	1462	broad.mit.edu	37	chr5	82834706	82834706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaaggctctggagatGcagcatttagggacacccag	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82834706G>A	ENST00000265077.3	+	8	6449	c.5884G>A	c.(5884-5886)Gca>Aca	p.A1962T	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1962	GAG-beta.				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)			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)	CTCTGGAGATGCAGCATTTAG	0.453																																						ENST00000265077.3																			0				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						c.(5884-5886)Gca>Aca		versican							96	88	91					5																	82834706		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.chr5:82834706G>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.5884G>A	5.37:g.82834706G>A	ENSP00000265077:p.Ala1962Thr					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN-AS1_ENST00000512090.1_RNA	p.A1962T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6449	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1962			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5884G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384584	0.11524	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.88;-1.9;3.19	5.97	-1.47	0.08772	.	0.710056	0.13201	N	0.405995	T	0.75554	0.3865	M	0.62723	1.935	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.18710	T	0.47	.	1.9771	0.03418	0.3318:0.215:0.3443:0.1089	.	975;1962	P13611-2;P13611	.;CSPG2_HUMAN	T	1962;975;975	ENSP00000265077:A1962T;ENSP00000340062:A975T;ENSP00000426251:A975T	ENSP00000265077:A1962T	A	+	1	0	VCAN	82870462	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.118000	0.15605	-0.164000	0.10927	-0.469000	0.05056	GCA		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	356	0	0	0	1	0	12	356					A	82834706	G	A	82834706	3	1	79	1	0	0	0	0	1	0	0	0	17192	1319	46	2	5910	2	VCAN	5	82834706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16938	82834706	98080554	6301	16618											
VCAN	1462	broad.mit.edu	37	chr5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcttacacaactctcCctgaagctactgaaaagtca	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2197	GAG-beta.				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)			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)	CACAACTCTCCCTGAAGCTAC	0.373																																						ENST00000265077.3																			0				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						c.(6589-6591)Cct>Act		versican							91	89	89					5																	82835411		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.chr5:82835411C>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.6589C>A	5.37:g.82835411C>A	ENSP00000265077:p.Pro2197Thr					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN-AS1_ENST00000512090.1_RNA	p.P2197T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7154	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2197			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.6589C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553069	0.45487	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84442	-1.83;-1.85;3.29	5.46	3.41	0.39046	.	0.454272	0.20652	N	0.088197	T	0.77824	0.4188	M	0.62723	1.935	0.09310	N	0.999999	P;B	0.34864	0.473;0.307	B;B	0.27887	0.084;0.051	T	0.70081	-0.4970	10	0.46703	T	0.11	.	5.0923	0.14715	0.2257:0.586:0.1064:0.0819	.	1210;2197	P13611-2;P13611	.;CSPG2_HUMAN	T	2197;1210;1210	ENSP00000265077:P2197T;ENSP00000340062:P1210T;ENSP00000426251:P1210T	ENSP00000265077:P2197T	P	+	1	0	VCAN	82871167	0.003000	0.15002	0.059000	0.19551	0.372000	0.29890	0.710000	0.25748	1.450000	0.47717	0.655000	0.94253	CCT		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		86	478	1	0	8.45761e-33	1	1.00019e-32	86	478					A	82835411	C	A	82835411	3	1	79	1	0	0	0	0	1	0	0	0	17192	623	22	3	6615	3	VCAN	5	82835411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	82835411	98079849	6302	16619											
VCAN	1462	broad.mit.edu	37	chr5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatactccctatctaagtAttgctactacccaccttatg	3	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2782	GAG-beta.				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)			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)	CTATCTAAGTATTGCTACTAC	0.438																																						ENST00000265077.3																			0				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						c.(8344-8346)Att>Gtt		versican							105	97	100					5																	82837166		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.chr5:82837166A>G	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.8344A>G	5.37:g.82837166A>G	ENSP00000265077:p.Ile2782Val					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN-AS1_ENST00000512090.1_RNA	p.I2782V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8909	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2782			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8344A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	8.071	0.770228	0.15983	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38722	1.12;1.12	6.17	5.0	0.66597	.	0.176773	0.40469	N	0.001084	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	B;B	0.23540	0.084;0.087	B;B	0.24006	0.05;0.033	T	0.12041	-1.0563	10	0.31617	T	0.26	.	9.6564	0.39928	0.8694:0.0:0.1306:0.0	.	1795;2782	P13611-2;P13611	.;CSPG2_HUMAN	V	2782;1795	ENSP00000265077:I2782V;ENSP00000340062:I1795V	ENSP00000265077:I2782V	I	+	1	0	VCAN	82872922	0.924000	0.31332	0.976000	0.42696	0.039000	0.13416	1.350000	0.34010	2.371000	0.80710	0.533000	0.62120	ATT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		75	354	0	0	0	1	0	75	354					G	82837166	A	G	82837166	3	3	79	1	0	0	0	0	1	0	0	0	17192	449	16	4	8370	4	VCAN	5	82837166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1755	82837166	98078094	6303	16620											
HAPLN1	1404	broad.mit.edu	37	chr5	82937350	82937350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagtagacaccatacaGcttatgctttttatctggga	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	344	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			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)	ACACCATACAGCTTATGCTTT	0.478																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(1030-1032)Ctg>Ttg		hyaluronan and proteoglycan link protein 1							143	153	149					5																	82937350		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937350G>A		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.1030C>T	5.37:g.82937350G>A							p.L344L	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1880	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	344			Link 2.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.1030C>T	CCDS4061.1																																																																																				0.478	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		148	748	0	0	0	1	0	148	748					A	82937350	G	A	82937350	2	1	79	1	0	0	0	0	0	0	0	1	6984	962	34	2		2	HAPLN1	5	82937350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100184	82937350	97977910	6304	16621											
EDIL3	10085	broad.mit.edu	37	chr5	83362285	83362285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccatgtcttcattggtGcctttcactttgtacattgc	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.G254G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(790-792)ggC>ggT		EGF-like repeats and discoidin I-like domains 3							90	98	96					5																	83362285		2203	4300	6503	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83362285G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.792C>T	5.37:g.83362285G>A						EDIL3_ENST00000380138.3_Silent_p.G254G|EDIL3_ENST00000510271.1_5'UTR	p.G264G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	7	1210	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	264			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.792C>T	CCDS4062.1																																																																																				0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		40	182	0	0	0	1	0	40	182					A	83362285	G	A	83362285	2	1	79	1	0	0	0	0	0	0	0	1	4931	1306	46	2		2	EDIL3	5	83362285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424935	83362285	97552975	6305	16622											
EDIL3	10085	broad.mit.edu	37	chr5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttggggtctgtgaagccatCtggacactcacaggaaaagg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	52	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(154-156)Gat>Tat		EGF-like repeats and discoidin I-like domains 3							92	83	86					5																	83549944		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83549944C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.154G>T	5.37:g.83549944C>A	ENSP00000296591:p.Asp52Tyr					EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	2	572	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	52			EGF-like 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.154G>T	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564227	0.45694	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.92397	-3.03;-3.03	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.382799	0.21161	N	0.079154	D	0.94155	0.8125	L	0.43923	1.385	0.27100	N	0.962635	B;B	0.29955	0.115;0.263	B;P	0.52514	0.086;0.701	D	0.90169	0.4234	10	0.72032	D	0.01	-12.6903	15.7408	0.77894	0.0:0.8635:0.1365:0.0	.	52;52	O43854-2;O43854	.;EDIL3_HUMAN	Y	52	ENSP00000296591:D52Y;ENSP00000369483:D52Y	ENSP00000296591:D52Y	D	-	1	0	EDIL3	83585700	0.994000	0.37717	0.983000	0.44433	0.948000	0.59901	2.320000	0.43797	2.642000	0.89623	0.650000	0.86243	GAT		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		23	226	1	0	9.57634e-11	1	1.01752e-10	23	226					A	83549944	C	A	83549944	3	1	79	1	0	0	0	0	1	0	0	0	4931	913	32	3	1328	3	EDIL3	5	83549944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187659	83549944	97365316	6306	16623											
COX7C	1350	broad.mit.edu	37	chr5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcatttgctacacccTtccttgtagtaagacaccaa	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	53					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373																																						ENST00000509578.1																			0				endometrium(1)|lung(1)	2						c.(157-159)Ttc>Gtc		cytochrome c oxidase subunit VIIc							175	164	168					5																	85915251		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915251T>G	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.157T>G	5.37:g.85915251T>G	ENSP00000425759:p.Phe53Val					COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V	p.F53V			P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	257	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	53					Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.157T>G	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176737	0.38413	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80632	-0.1296	8	0.66056	D	0.02	-14.2803	12.1643	0.54120	0.0:0.0:0.0:1.0	.	53	P15954	COX7C_HUMAN	V	53	.	ENSP00000247655:F53V	F	+	1	0	COX7C	85951007	1.000000	0.71417	0.645000	0.29479	0.038000	0.13279	5.524000	0.67105	2.118000	0.64928	0.533000	0.62120	TTC		0.373	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		102	520	0	0	0	1	0	102	520					G	85915251	T	G	85915251	3	3	79	1	0	0	0	0	1	0	0	0	3793	1609	56	4	163	4	COX7C	5	85915251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2365307	85915251	95000009	6307	16624											
RASA1	5921	broad.mit.edu	37	chr5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggtattgaaccagggTccctgcgtgttcgagcacga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000274376.6	+	16	2677	c.2113T>C	c.(2113-2115)Tcc>Ccc	p.S705P	RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000456692.2_Missense_Mutation_p.S528P|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	705					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGAACCAGGGTCCCTGCGTGT	0.403																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1582-1584)Tcc>Ccc		RAS p21 protein activator (GTPase activating protein) 1							98	95	96					5																	86672311		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672311T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2113T>C	5.37:g.86672311T>C	ENSP00000274376:p.Ser705Pro					CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000274376.6_Missense_Mutation_p.S705P|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P	p.S528P	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	1697	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	705			PH.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1582T>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312935	0.81358	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.54	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.048785	0.85682	D	0.000000	T	0.81004	0.4733	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.74348	0.959;0.983;0.959;0.982;0.959	T	0.81720	-0.0804	10	0.51188	T	0.08	.	11.465	0.50232	0.1347:0.0:0.0:0.8653	.	539;538;539;528;705	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	705;738;528;538;539	ENSP00000274376:S705P;ENSP00000411221:S528P;ENSP00000422008:S538P;ENSP00000420905:S539P	ENSP00000274376:S705P	S	+	1	0	RASA1	86708067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	2.102000	0.63906	0.460000	0.39030	TCC		0.403	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		66	247	0	0	0	1	0	66	247					C	86672311	T	C	86672311	3	2	79	1	0	0	0	0	1	0	0	0	13110	1667	58	4	2187	4	RASA1	5	86672311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	757060	86672311	94242949	6308	16625											
TMEM161B	153396	broad.mit.edu	37	chr5	87498877	87498877	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aataaaggtgccaagaagttGatatgaagtaaagttctgaa	10	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000296595.6	-	9	940	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000509387.1_Silent_p.I145I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	272						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAAGAAGTTGATATGAAGTA	0.363																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(814-816)atC>atT		transmembrane protein 161B							122	113	116					5																	87498877		2203	4300	6503	SO:0001819	synonymous_variant	153396					integral to membrane		g.chr5:87498877G>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.816C>T	5.37:g.87498877G>A						TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000506536.1_Silent_p.I90I	p.I272I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	9	940	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	272					Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	37	c.816C>T	CCDS4065.1																																																																																				0.363	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		61	309	0	0	0	1	0	61	309					A	87498877	G	A	87498877	2	1	79	1	0	0	0	0	0	0	0	1	16129	1280	45	2		2	TMEM161B	5	87498877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826566	87498877	93416383	6309	16626											
MBLAC2	153364	broad.mit.edu	37	chr5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacccggaactgtctgGccctccagccggggctgggc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	POLR3G_ENST00000514483.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	135						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(403-405)gCc>gAc		metallo-beta-lactamase domain containing 2							11	12	12					5																	89769706		2186	4275	6461	SO:0001583	missense	153364						hydrolase activity|metal ion binding	g.chr5:89769706G>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.404C>A	5.37:g.89769706G>T	ENSP00000314776:p.Ala135Asp					MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D	p.A135D	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	879	-			135					D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	c.404C>A	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240964	0.95272	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.42513	0.97;0.97	5.34	4.46	0.54185	Beta-lactamase-like (2);	0.047707	0.85682	N	0.000000	T	0.51753	0.1693	M	0.76328	2.33	0.80722	D	1	P	0.39311	0.667	P	0.45232	0.474	T	0.52895	-0.8514	10	0.37606	T	0.19	-12.2393	15.4054	0.74874	0.0:0.0:0.8598:0.1402	.	135	Q68D91	MBLC2_HUMAN	D	135;135;135;65	ENSP00000314776:A135D;ENSP00000425600:A135D	ENSP00000314776:A135D	A	-	2	0	AC093510.2;MBLAC2	89805462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.142000	0.94618	1.222000	0.43521	0.563000	0.77884	GCC		0.682	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		8	64	1	0	0.00307968	1	0.00310409	8	64					T	89769706	G	T	89769706	3	4	79	1	0	0	0	0	1	0	0	0	9393	1203	42	3	443	3	MBLAC2	5	89769706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2270829	89769706	91145554	6310	16627											
MBLAC2	153364	broad.mit.edu	37	chr5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacgtcctgctcggagCcgcgcaccagccagatgttg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	POLR3G_ENST00000514483.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	37						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(109-111)gGc>gAc		metallo-beta-lactamase domain containing 2							28	25	26					5																	89770000		2202	4300	6502	SO:0001583	missense	153364						hydrolase activity|metal ion binding	g.chr5:89770000C>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.110G>A	5.37:g.89770000C>T	ENSP00000314776:p.Gly37Asp					MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D	p.G37D	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	585	-			37					D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	c.110G>A	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653877	0.96724	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122	T;T	0.80214	-1.35;-1.35	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	L	0.54908	1.71	0.80722	D	1	P	0.45474	0.859	P	0.61397	0.888	T	0.82841	-0.0258	10	0.23302	T	0.38	-1.1889	18.7291	0.91728	0.0:1.0:0.0:0.0	.	37	Q68D91	MBLC2_HUMAN	D	37	ENSP00000314776:G37D;ENSP00000425600:G37D	ENSP00000314776:G37D	G	-	2	0	AC093510.2;MBLAC2	89805756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.496000	0.84212	0.655000	0.94253	GGC		0.607	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		10	49	0	0	0	1	0	10	49					T	89770000	C	T	89770000	3	4	79	1	0	0	0	0	1	0	0	0	9393	739	26	2	737	2	MBLAC2	5	89770000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	89770000	91145260	6311	16628											
GPR98	84059	broad.mit.edu	37	chr5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagttctccattttgcacAagggcagatgttggcaacaa	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	460	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				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)			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)		CATTTTGCACAAGGGCAGATG	0.463																																						ENST00000405460.2																			0				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						c.(1378-1380)cAa>cGa		G protein-coupled receptor 98							154	151	152					5																	89924519		1972	4162	6134	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.chr5:89924519A>G	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.1379A>G	5.37:g.89924519A>G	ENSP00000384582:p.Gln460Arg						p.Q460R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1475	+		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)	460			Calx-beta 4.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1379A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281698	0.80692	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30981	1.51	5.72	4.53	0.55603	.	0.116585	0.64402	D	0.000014	T	0.47820	0.1466	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.49428	-0.8941	10	0.62326	D	0.03	.	13.1022	0.59226	0.866:0.134:0.0:0.0	.	460	Q8WXG9	GPR98_HUMAN	R	460	ENSP00000384582:Q460R	ENSP00000296619:Q460R	Q	+	2	0	GPR98	89960275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.673000	0.68109	1.060000	0.40578	0.528000	0.53228	CAA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		17	464	0	0	0	1	0	17	464					G	89924519	A	G	89924519	3	3	79	1	0	0	0	0	1	0	0	0	6751	130	5	4	1409	4	GPR98	5	89924519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154519	89924519	90990741	6312	16629											
GPR98	84059	broad.mit.edu	37	chr5	89925335	89925335	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgcattccttcaaaaTggagctcactttctagtaca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	606					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)			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)		tccttcaaaatggagctcact	0.318																																						ENST00000405460.2																			0				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						c.(1816-1818)aaT>aaC		G protein-coupled receptor 98							56	55	55					5																	89925335		1844	4083	5927	SO:0001819	synonymous_variant	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.chr5:89925335T>C	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.1818T>C	5.37:g.89925335T>C							p.N606N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	9	1914	+		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)	606					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.1818T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002709	0.19121	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71167	-0.4672	4	.	.	.	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	R	195	.	.	W	+	1	0	GPR98	89961091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.104000	0.64026	0.533000	0.62120	TGG		0.318	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	168	0	0	0	1	0	37	168					C	89925335	T	C	89925335	2	2	79	1	0	0	0	0	0	0	0	1	6751	1461	51	4		4	GPR98	5	89925335	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	816	89925335	90989925	6313	16630											
GPR98	84059	broad.mit.edu	37	chr5	89938474	89938474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaacgtggaaaaccaagtGctgaaatctggatatactag	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	754					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)			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)		AAAACCAAGTGCTGAAATCTG	0.413																																						ENST00000405460.2																			0				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						c.(2260-2262)gtG>gtA		G protein-coupled receptor 98							116	119	118					5																	89938474		1805	4076	5881	SO:0001819	synonymous_variant	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.chr5:89938474G>A	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.2262G>A	5.37:g.89938474G>A							p.V754V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	12	2358	+		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)	754					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.2262G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756800	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	1.0	0.19881	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	2.1616	0.03826	0.2883:0.3898:0.2094:0.1125	.	.	.	.	T	343	.	.	A	+	1	0	GPR98	89974230	0.969000	0.33509	0.949000	0.38748	0.727000	0.41649	0.197000	0.17197	0.158000	0.19367	0.460000	0.39030	GCT		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		29	645	0	0	0	1	0	29	645					A	89938474	G	A	89938474	2	1	79	1	0	0	0	0	0	0	0	1	6751	1306	46	2		2	GPR98	5	89938474	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13139	89938474	90976786	6314	16631											
GPR98	84059	broad.mit.edu	37	chr5	89939798	89939798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagatgctatctataGtggtaatttattctgtgtct	9	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89939798G>T	ENST00000405460.2	+	14	2828	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	911	Calx-beta 7. {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)			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)		GCTATCTATAGTGGTAATTTA	0.274																																						ENST00000405460.2																			0				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						c.(2731-2733)aGt>aTt		G protein-coupled receptor 98							107	101	103					5																	89939798		1825	4080	5905	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.chr5:89939798G>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.2732G>T	5.37:g.89939798G>T	ENSP00000384582:p.Ser911Ile						p.S911I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	14	2828	+		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)	911					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2732G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.146701|2.146701	0.37923|0.37923	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.27557|.	1.66|.	5.35|5.35	2.46|2.46	0.29980|0.29980	Na-Ca exchanger/integrin-beta4 (1);|.	0.900278|.	0.09866|.	N|.	0.745581|.	T|.	0.33933|.	0.0880|.	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	P|.	0.40000|.	0.698|.	B|.	0.37888|.	0.26|.	T|.	0.21518|.	-1.0243|.	10|.	0.54805|.	T|.	0.06|.	.|.	5.3234|5.3234	0.15893|0.15893	0.3069:0.2793:0.4138:0.0|0.3069:0.2793:0.4138:0.0	.|.	911|.	Q8WXG9|.	GPR98_HUMAN|.	I|Y	911|499	ENSP00000384582:S911I|.	ENSP00000296619:S911I|.	S|X	+|+	2|3	0|2	GPR98|GPR98	89975554|89975554	0.527000|0.527000	0.26306|0.26306	0.390000|0.390000	0.26220|0.26220	0.262000|0.262000	0.26303|0.26303	1.118000|1.118000	0.31246|0.31246	0.615000|0.615000	0.30124|0.30124	0.655000|0.655000	0.94253|0.94253	AGT|TAG		0.274	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	116	1	0	5.9392e-07	1	6.14895e-07	6	116					T	89939798	G	T	89939798	3	4	79	1	0	0	0	0	1	0	0	0	6751	1029	36	3	2786	3	GPR98	5	89939798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324	89939798	90975462	6315	16632											
GPR98	84059	broad.mit.edu	37	chr5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaccgatggcaggggaTttttattccagttgaggtaa	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3297					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)			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)		TGGCAGGGGATTTTTATTCCA	0.284																																						ENST00000405460.2																			0				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						c.(9889-9891)aTt>aGt		G protein-coupled receptor 98							53	47	49					5																	90020790		1785	4056	5841	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.chr5:90020790T>G	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.9890T>G	5.37:g.90020790T>G	ENSP00000384582:p.Ile3297Ser						p.I3297S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	9986	+		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)	3297					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9890T>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.370527|2.370527	0.42003|0.42003	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.26518	.|1.73	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.449501	.|0.25154	.|N	.|0.032734	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28128	.|0.049;0.201	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.66056	.|D	.|0.02	.|.	10.582|10.582	0.45261|0.45261	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|3297;3297	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	863|3297	.|ENSP00000384582:I3297S	.|ENSP00000296619:I3297S	F|I	+|+	1|2	0|0	GPR98|GPR98	90056546|90056546	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	0.940000|0.940000	0.37473|0.37473	0.455000|0.455000	0.32223|0.32223	TTT|ATT		0.284	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		31	179	0	0	0	1	0	31	179					G	90020790	T	G	90020790	3	3	79	1	0	0	0	0	1	0	0	0	6751	1493	52	4	10072	4	GPR98	5	90020790	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80992	90020790	90894470	6316	16633											
GPR98	84059	broad.mit.edu	37	chr5	90041501	90041501	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagaaaaagaagaatccttCaaagttcaacttaaaaatcc	4	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3621	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				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)			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)		AAGAATCCTTCAAAGTTCAAC	0.363																																						ENST00000405460.2																			0				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						c.(10861-10863)ttC>ttT		G protein-coupled receptor 98							90	83	85					5																	90041501		1831	4090	5921	SO:0001819	synonymous_variant	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.chr5:90041501C>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.10863C>T	5.37:g.90041501C>T							p.F3621F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	52	10959	+		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)	3621			Calx-beta 23.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.10863C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071033	0.20147	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.59	4.73	0.59995	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	4	.	.	.	.	11.0436	0.47846	0.0:0.8049:0.0:0.1951	.	.	.	.	L	1187	.	.	S	+	2	0	GPR98	90077257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.989000	0.40707	1.377000	0.46286	0.563000	0.77884	TCA		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	178	0	0	0	1	0	23	178					T	90041501	C	T	90041501	2	4	79	1	0	0	0	0	0	0	0	1	6751	825	29	2		2	GPR98	5	90041501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20711	90041501	90873759	6317	16634											
GPR98	84059	broad.mit.edu	37	chr5	90050900	90050900	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatttcttactgcatgtCgataatcaagctactgagaa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90050900C>T	ENST00000405460.2	+	55	11574	c.11478C>T	c.(11476-11478)gtC>gtT	p.V3826V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3826	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				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)			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)		TACTGCATGTCGATAATCAAG	0.358																																						ENST00000405460.2																			0				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						c.(11476-11478)gtC>gtT		G protein-coupled receptor 98							129	123	125					5																	90050900		1867	4094	5961	SO:0001819	synonymous_variant	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.chr5:90050900C>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.11478C>T	5.37:g.90050900C>T							p.V3826V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	55	11574	+		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)	3826					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.11478C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	7.271	0.607155	0.14002	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.73	1.34	0.21922	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	5.645	0.17584	0.2541:0.5424:0.0:0.2035	.	.	.	.	L	1392	.	.	S	+	2	0	GPR98	90086656	0.000000	0.05858	0.034000	0.17996	0.978000	0.69477	0.191000	0.17076	0.334000	0.23590	0.655000	0.94253	TCG		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		85	319	0	0	0	1	0	85	319					T	90050900	C	T	90050900	2	4	79	1	0	0	0	0	0	0	0	1	6751	871	31	1		1	GPR98	5	90050900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9399	90050900	90864360	6318	16635											
GPR98	84059	broad.mit.edu	37	chr5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgctgtgtctgaaaagCctgatgtggccactgtaact	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5205					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)			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)		GTCTGAAAAGCCTGATGTGGC	0.473																																						ENST00000405460.2																			0				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						c.(15613-15615)Cct>Tct		G protein-coupled receptor 98							80	79	79					5																	90106690		1964	4184	6148	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.chr5:90106690C>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.15613C>T	5.37:g.90106690C>T	ENSP00000384582:p.Pro5205Ser					GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	p.P5205S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15709	+		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)	5205					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15613C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005721	0.19199	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.71;1.68	5.01	4.08	0.47627	.	0.000000	0.49305	D	0.000150	T	0.25005	0.0607	L	0.51422	1.61	0.29785	N	0.833667	P;B;P	0.40180	0.58;0.118;0.705	B;B;B	0.41510	0.196;0.026;0.359	T	0.09465	-1.0673	9	.	.	.	.	10.1779	0.42950	0.1985:0.8015:0.0:0.0	.	866;5205;866	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5205;5205;866	ENSP00000384582:P5205S;ENSP00000392618:P866S	.	P	+	1	0	GPR98	90142446	0.998000	0.40836	0.993000	0.49108	0.798000	0.45092	1.080000	0.30779	2.504000	0.84457	0.563000	0.77884	CCT		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		90	320	0	0	0	1	0	90	320					T	90106690	C	T	90106690	3	4	79	1	0	0	0	0	1	0	0	0	6751	739	26	2	15907	2	GPR98	5	90106690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55790	90106690	90808570	6319	16636											
GPR98	84059	broad.mit.edu	37	chr5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactttgctgaagtgactgAgaattttgccttttctctgc	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					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)			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)		GAAGTGACTGAGAATTTTGCC	0.383																																						ENST00000405460.2																			0				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						c.(17149-17151)gAg>gGg		G protein-coupled receptor 98							106	99	101					5																	90144584		1835	4087	5922	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.chr5:90144584A>G	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.17150A>G	5.37:g.90144584A>G	ENSP00000384582:p.Glu5717Gly					GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	p.E5717G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	79	17246	+		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)	5717					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17150A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	33	5.228007	0.95173	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.38887	1.11;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62891	-0.6758	9	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	5717;5717;1378	ENSP00000384582:E5717G;ENSP00000392618:E1378G	.	E	+	2	0	GPR98	90180340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	2.279000	0.76181	0.533000	0.62120	GAG		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		21	205	0	0	0	1	0	21	205					G	90144584	A	G	90144584	3	3	79	1	0	0	0	0	1	0	0	0	6751	304	11	4	17464	4	GPR98	5	90144584	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37894	90144584	90770676	6320	16637											
NR2F1	7025	broad.mit.edu	37	chr5	92923924	92923924	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctgctacgcctcacCtggagcgagctgttcgtgct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	255					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TACGCCTCACCTGGAGCGAGC	0.687																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(763-765)acC>acA		nuclear receptor subfamily 2, group F, member 1							70	67	68					5																	92923924		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923924C>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.765C>A	5.37:g.92923924C>A							p.T255T	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2452	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	255						Silent	SNP	ENST00000327111.3	37	c.765C>A	CCDS4068.1																																																																																				0.687	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		89	372	1	0	1.42536e-29	1	1.66628e-29	89	372					A	92923924	C	A	92923924	2	1	79	1	0	0	0	0	0	0	0	1	10669	668	24	3		3	NR2F1	5	92923924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2779340	92923924	87991336	6321	16638											
POU5F2	134187	broad.mit.edu	37	chr5	93076496	93076496	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccatcttgctgcggttataGaaccaaactcgaaccacatc	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	258					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCGGTTATAGAACCAAACTC	0.577																																						ENST00000510627.4																			0											c.(772-774)ttC>ttT		POU domain class 5, transcription factor 2							52	53	52					5																	93076496		2012	4177	6189	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076496G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.774C>T	5.37:g.93076496G>A						FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron	p.F258F	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	847	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	258					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.774C>T	CCDS59489.1																																																																																				0.577	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		19	85	0	0	0	1	0	19	85					A	93076496	G	A	93076496	2	1	79	1	0	0	0	0	0	0	0	1	12325	933	33	2		2	POU5F2	5	93076496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152572	93076496	87838764	6322	16639											
MCTP1	79772	broad.mit.edu	37	chr5	94619986	94619986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcgacgagcagcacagGttgggctgcgaggaggagaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	98					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGCAGCACAGGTTGGGCTGCG	0.701																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(292-294)aaC>aaT		multiple C2 domains, transmembrane 1							20	23	22					5																	94619986		2152	4202	6354	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94619986G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.294C>T	5.37:g.94619986G>A							p.N98N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	1	293	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	98					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.294C>T	CCDS34203.1																																																																																				0.701	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		61	222	0	0	0	1	0	61	222					A	94619986	G	A	94619986	2	1	79	1	0	0	0	0	0	0	0	1	9441	1252	44	2		2	MCTP1	5	94619986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1543490	94619986	86295274	6323	16640											
TTC37	9652	broad.mit.edu	37	chr5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaacacatctctgcagCtctcatcattccttgggatt	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1418						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4252-4254)Gct>Tct		tetratricopeptide repeat domain 37							114	101	105					5																	94814107		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94814107C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4252G>T	5.37:g.94814107C>A	ENSP00000351596:p.Ala1418Ser						p.A1418S	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			40	4550	-			1418					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4252G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778824	0.70107	.	.	ENSG00000198677	ENST00000358746	T	0.63913	-0.07	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239529	0.43260	D	0.000592	T	0.58637	0.2136	L	0.27053	0.805	0.28065	N	0.932795	P	0.45283	0.855	P	0.48598	0.583	T	0.51568	-0.8689	10	0.13853	T	0.58	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	1418	Q6PGP7	TTC37_HUMAN	S	1418	ENSP00000351596:A1418S	ENSP00000351596:A1418S	A	-	1	0	TTC37	94839863	0.999000	0.42202	0.991000	0.47740	0.916000	0.54674	4.296000	0.59055	2.686000	0.91538	0.645000	0.84053	GCT		0.443	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		59	316	1	0	2.73361e-28	1	3.17826e-28	59	316					A	94814107	C	A	94814107	3	1	79	1	0	0	0	0	1	0	0	0	16759	797	28	3	458	3	TTC37	5	94814107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194121	94814107	86101153	6324	16641											
TTC37	9652	broad.mit.edu	37	chr5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtagttcttcaagtAcagcatctgggagtggcttt	10	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1385						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4153-4155)gTa>gCa		tetratricopeptide repeat domain 37							179	173	175					5																	94818235		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94818235A>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4154T>C	5.37:g.94818235A>G	ENSP00000351596:p.Val1385Ala						p.V1385A	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			39	4452	-			1385					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4154T>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407050	0.42715	.	.	ENSG00000198677	ENST00000358746	T	0.50548	0.74	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);	0.174489	0.49305	N	0.000142	T	0.28499	0.0705	N	0.20986	0.625	0.40485	D	0.980488	B	0.22146	0.065	B	0.16289	0.015	T	0.11991	-1.0565	10	0.02654	T	1	.	11.8182	0.52224	0.9318:0.0:0.0682:0.0	.	1385	Q6PGP7	TTC37_HUMAN	A	1385	ENSP00000351596:V1385A	ENSP00000351596:V1385A	V	-	2	0	TTC37	94843991	0.971000	0.33674	0.692000	0.30179	0.975000	0.68041	5.220000	0.65267	1.045000	0.40225	-0.256000	0.11100	GTA		0.408	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		121	593	0	0	0	1	0	121	593					G	94818235	A	G	94818235	3	3	79	1	0	0	0	0	1	0	0	0	16759	391	14	4	560	4	TTC37	5	94818235	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4128	94818235	86097025	6325	16642											
TTC37	9652	broad.mit.edu	37	chr5	94877557	94877557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttggtaaacaccaggCaagtcatccttagcatttat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94877557C>T	ENST00000358746.2	-	6	586	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	96						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAACACCAGGCAAGTCATCCT	0.323																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(286-288)ttG>ttA		tetratricopeptide repeat domain 37							86	86	86					5																	94877557		2203	4299	6502	SO:0001819	synonymous_variant	9652						binding	g.chr5:94877557C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.288G>A	5.37:g.94877557C>T							p.L96L	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			6	586	-			96					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.288G>A	CCDS4072.1																																																																																				0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		7	203	0	0	0	1	0	7	203					T	94877557	C	T	94877557	2	4	79	1	0	0	0	0	0	0	0	1	16759	709	25	2		2	TTC37	5	94877557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59322	94877557	86037703	6326	16643											
ARSK	153642	broad.mit.edu	37	chr5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaaggttaacatttcAtccaggaagtcaggtagtga	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	49					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTAACATTTCATCCAGGAAGT	0.323																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(145-147)cAt>cGt		arylsulfatase family, member K							71	66	68					5																	94901721		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94901721A>G		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.146A>G	5.37:g.94901721A>G	ENSP00000369346:p.His49Arg						p.H49R	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	2	351	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	49					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.146A>G	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426397	0.25726	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.99887	-7.53	6.17	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399540	0.29638	N	0.011585	D	0.99052	0.9675	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.99984	1.3018	10	0.25751	T	0.34	-5.2358	7.7932	0.29133	0.6385:0.1248:0.0:0.2367	.	49	Q6UWY0	ARSK_HUMAN	R	49	ENSP00000369346:H49R	ENSP00000369346:H49R	H	+	2	0	ARSK	94927477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.130000	0.42092	0.533000	0.62120	CAT		0.323	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		29	98	0	0	0	1	0	29	98					G	94901721	A	G	94901721	3	3	79	1	0	0	0	0	1	0	0	0	997	217	8	4	152	4	ARSK	5	94901721	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24164	94901721	86013539	6327	16644											
SPATA9	83890	broad.mit.edu	37	chr5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatccacgaattaatgttgCtcgattaatcttagctaaag	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	73					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(217-219)Gca>Aca		spermatogenesis associated 9							195	166	176					5																	95011277		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95011277C>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.217G>A	5.37:g.95011277C>T	ENSP00000274432:p.Ala73Thr					RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	3	358	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	73					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.217G>A	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049475	0.01981	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.91	-1.22	0.09494	.	0.750081	0.12247	N	0.486018	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.14868	-1.0457	10	0.29301	T	0.29	-2.4842	2.8354	0.05513	0.1166:0.4832:0.1141:0.286	.	73	Q9BWV2	SPAT9_HUMAN	T	73	ENSP00000274432:A73T	ENSP00000274432:A73T	A	-	1	0	SPATA9	95037033	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.809000	0.27168	-0.645000	0.05458	-2.879000	0.00098	GCA		0.403	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		47	252	0	0	0	1	0	47	252					T	95011277	C	T	95011277	3	4	79	1	0	0	0	0	1	0	0	0	15068	797	28	2	559	2	SPATA9	5	95011277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109556	95011277	85903983	6328	16645											
RHOBTB3	22836	broad.mit.edu	37	chr5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccagtaattattgctgCtgttggtaccagacaaaatg	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	132	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTATTGCTGCTGTTGGTACC	0.269																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(394-396)gCt>gTt		Rho-related BTB domain containing 3							71	75	74					5																	95072759		2203	4299	6502	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95072759C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.395C>T	5.37:g.95072759C>T	ENSP00000369318:p.Ala132Val						p.A132V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	3	903	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	132			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.395C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151418	0.94645	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.71461	-0.57;-0.57	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84314	0.0512	10	0.62326	D	0.03	-17.047	20.1013	0.97878	0.0:1.0:0.0:0.0	.	132	O94955	RHBT3_HUMAN	V	138;132	ENSP00000423688:A138V;ENSP00000369318:A132V	ENSP00000369318:A132V	A	+	2	0	RHOBTB3	95098515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.841000	0.97950	0.637000	0.83480	GCT		0.269	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		55	277	0	0	0	1	0	55	277					T	95072759	C	T	95072759	3	4	79	1	0	0	0	0	1	0	0	0	13385	797	28	2	405	2	RHOBTB3	5	95072759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61482	95072759	85842501	6329	16646											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctctgcgctgtaagccAtgttttcatgctgcttttca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	279	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGTAAGCCATGTTTTCATG	0.433																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(835-837)cAt>cCt		Rho-related BTB domain containing 3							143	129	134					5																	95091253		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091253A>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.836A>C	5.37:g.95091253A>C	ENSP00000369318:p.His279Pro					GLRX_ENST00000508780.1_Intron	p.H279P	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1344	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	279			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.836A>C	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609307	0.46527	.	.	ENSG00000164292	ENST00000379982	T	0.66638	-0.22	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.214991	0.49916	D	0.000126	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	10	0.27082	T	0.32	-25.0285	16.3126	0.82898	1.0:0.0:0.0:0.0	.	279	O94955	RHBT3_HUMAN	P	279	ENSP00000369318:H279P	ENSP00000369318:H279P	H	+	2	0	RHOBTB3	95117009	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.624000	0.54231	2.333000	0.79357	0.482000	0.46254	CAT		0.433	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		105	419	0	0	0	1	0	105	419					C	95091253	A	C	95091253	3	2	79	1	0	0	0	0	1	0	0	0	13385	217	8	4	858	4	RHOBTB3	5	95091253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18494	95091253	85824007	6330	16647											
PCSK1	5122	broad.mit.edu	37	chr5	95728750	95728750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagcttgaagcagccgGtcgtctctgtgcttgtaagg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PCSK1_ENST00000508626.1_Silent_p.D692D|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	739					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAAGCAGCCGGTCGTCTCTGT	0.403																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2215-2217)gaC>gaT		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						163	170	167					5																	95728750		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728750G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2217C>T	5.37:g.95728750G>A						CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.D692D|PCSK1_ENST00000513085.1_5'UTR	p.D739D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2454	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	739			Amphipathic (Potential).		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.2217C>T	CCDS4081.1																																																																																				0.403	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		256	1074	0	0	0	1	0	256	1074					A	95728750	G	A	95728750	2	1	79	1	0	0	0	0	0	0	0	1	11642	1252	44	2		2	PCSK1	5	95728750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637497	95728750	85186510	6331	16648											
PCSK1	5122	broad.mit.edu	37	chr5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagatggtgtagatgCtgtctgtgtagccatcacag	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	325	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTGTAGATGCTGTCTGTGTA	0.577																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(973-975)aGc>aTc		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						252	219	230					5																	95746599		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746599C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.974G>T	5.37:g.95746599C>A	ENSP00000308024:p.Ser325Ile					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|PCSK1_ENST00000513085.1_Intron	p.S325I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1211	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	325			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.974G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977431	0.92982	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89485	-2.52;-2.52	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97406	0.9999	10	0.87932	D	0	-20.7793	19.0469	0.93025	0.0:1.0:0.0:0.0	.	325	P29120	NEC1_HUMAN	I	325;278	ENSP00000308024:S325I;ENSP00000421600:S278I	ENSP00000308024:S325I	S	-	2	0	PCSK1	95772355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.585000	0.79938	AGC		0.577	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		167	904	1	0	2.7625e-60	1	3.47358e-60	167	904					A	95746599	C	A	95746599	3	1	79	1	0	0	0	0	1	0	0	0	11642	797	28	3	1315	3	PCSK1	5	95746599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17849	95746599	85168661	6332	16649											
PCSK1	5122	broad.mit.edu	37	chr5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggatcattgaagagatTtagtgctgagtcccttagag	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	119					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGAAGAGATTTAGTGCTGAG	0.408																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(355-357)Aat>Cat		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						183	160	168					5																	95761565		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95761565T>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.355A>C	5.37:g.95761565T>G	ENSP00000308024:p.Asn119His					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H	p.N119H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	3	592	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	119					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.355A>C	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059137	0.19987	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.67523	-0.12;-0.27;0.44	5.63	1.59	0.23543	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.178406	0.64402	D	0.000015	T	0.55940	0.1952	L	0.53561	1.675	0.31961	N	0.608354	B	0.06786	0.001	B	0.06405	0.002	T	0.54516	-0.8282	10	0.20519	T	0.43	-13.2118	10.1792	0.42957	0.0:0.2174:0.0:0.7826	.	119	P29120	NEC1_HUMAN	H	119;72;119	ENSP00000308024:N119H;ENSP00000421600:N72H;ENSP00000427294:N119H	ENSP00000308024:N119H	N	-	1	0	PCSK1	95787321	1.000000	0.71417	0.825000	0.32803	0.590000	0.36582	3.129000	0.50500	0.403000	0.25479	0.533000	0.62120	AAT		0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		52	216	0	0	0	1	0	52	216					G	95761565	T	G	95761565	3	3	79	1	0	0	0	0	1	0	0	0	11642	1841	64	4	1954	4	PCSK1	5	95761565	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14966	95761565	85153695	6333	16650											
CAST	831	broad.mit.edu	37	chr5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaacttccaagccaaaAgatgactaaagaaatacaag	8	7	0	3	rs200044442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000341926.3	+	29	2280	c.2118A>C	c.(2116-2118)aaA>aaC	p.K706N	ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N			P20810	ICAL_HUMAN	calpastatin	706					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2365-2367)aaA>aaC		calpastatin							105	105	105					5																	96107374		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96107374A>C	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.2118A>C	5.37:g.96107374A>C	ENSP00000339914:p.Lys706Asn					ERAP1_ENST00000296754.3_Intron|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000341926.3_Missense_Mutation_p.K706N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N	p.K789N			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	31	2553	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	706					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2367A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252721|2.252721	0.39797|0.39797	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.24151|0.18502	1.93;1.89;1.89;1.88;1.87;1.93;1.9;1.94;1.93;1.94;1.95;1.99;1.94;1.94;2.0;1.9|2.21	5.31|5.31	1.59|1.59	0.23543|0.23543	.|.	0.251159|0.251159	0.34046|0.34046	N|N	0.004309|0.004309	T|T	0.22936|0.22936	0.0554|0.0554	M|M	0.65498|0.65498	2.005|2.005	0.49687|0.49687	D|D	0.999817|0.999817	D;D;P;B;P;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.993;0.829;0.437;0.829;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0|.	D;D;B;B;B;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.991;0.977;0.36;0.186;0.36;0.996;0.997;0.997;0.996;0.997;0.997;0.998;0.998;0.99;0.998;0.998|.	T|T	0.02797|0.02797	-1.1109|-1.1109	10|8	0.72032|0.66056	D|D	0.01|0.02	-4.0288|-4.0288	2.8782|2.8782	0.05639|0.05639	0.6117:0.0:0.2025:0.1858|0.6117:0.0:0.2025:0.1858	.|.	634;752;429;433;428;691;671;684;665;706;754;748;770;767;789;693|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|T	693;789;789;770;754;748;767;752;706;691;684;634;671;692;421;429|434	ENSP00000343421:K693N;ENSP00000425721:K789N;ENSP00000379158:K789N;ENSP00000352098:K770N;ENSP00000320319:K754N;ENSP00000379157:K748N;ENSP00000422176:K767N;ENSP00000422677:K752N;ENSP00000339914:K706N;ENSP00000421130:K691N;ENSP00000312523:K684N;ENSP00000425670:K634N;ENSP00000426946:K671N;ENSP00000423638:K692N;ENSP00000425787:K421N;ENSP00000422929:K429N|ENSP00000412374:K434T	ENSP00000312523:K684N|ENSP00000412374:K434T	K|K	+|+	3|2	2|0	CAST|CAST	96133130|96133130	0.824000|0.824000	0.29247|0.29247	0.484000|0.484000	0.27391|0.27391	0.215000|0.215000	0.24574|0.24574	1.298000|1.298000	0.33412|0.33412	0.406000|0.406000	0.25560|0.25560	0.397000|0.397000	0.26171|0.26171	AAA|AAG		0.358	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		74	304	0	0	0	1	0	74	304					C	96107374	A	C	96107374	3	2	79	1	0	0	0	0	1	0	0	0	2691	69	3	4	2613	4	CAST	5	96107374	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	345809	96107374	84807886	6334	16651											
LNPEP	4012	broad.mit.edu	37	chr5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaaatgggaaattgtttCcatgggcacagatcaggctt	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(484-486)Cca>Tca		leucyl/cystinyl aminopeptidase							89	87	88					5																	96315306		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96315306C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.484C>T	5.37:g.96315306C>T	ENSP00000231368:p.Pro162Ser					LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	p.P162S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1176	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	162					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.484C>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04360	3.64;3.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.00477	-1.1716	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	162	Q9UIQ6	LCAP_HUMAN	S	162;148	ENSP00000231368:P162S;ENSP00000379117:P148S	ENSP00000231368:P162S	P	+	1	0	LNPEP	96341062	1.000000	0.71417	0.994000	0.49952	0.047000	0.14425	7.252000	0.78309	2.894000	0.99253	0.591000	0.81541	CCA		0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		105	442	0	0	0	1	0	105	442					T	96315306	C	T	96315306	3	4	79	1	0	0	0	0	1	0	0	0	8897	855	30	2	490	2	LNPEP	5	96315306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207932	96315306	84599954	6335	16652											
LNPEP	4012	broad.mit.edu	37	chr5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttctgagtgacaaagAccgagccaaccttatcaaca	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	727					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACAAAGACCGAGCCAAC	0.323																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2179-2181)gAc>gGc		leucyl/cystinyl aminopeptidase							150	148	149					5																	96349496		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349496A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2180A>G	5.37:g.96349496A>G	ENSP00000231368:p.Asp727Gly					LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	p.D727G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	12	2872	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	727					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2180A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440289	0.83993	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.10099	2.91;2.91	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.13791	-1.0496	10	0.87932	D	0	.	14.618	0.68562	1.0:0.0:0.0:0.0	.	727	Q9UIQ6	LCAP_HUMAN	G	727;713	ENSP00000231368:D727G;ENSP00000379117:D713G	ENSP00000231368:D727G	D	+	2	0	LNPEP	96375252	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.791000	0.91849	1.979000	0.57680	0.528000	0.53228	GAC		0.323	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		152	647	0	0	0	1	0	152	647					G	96349496	A	G	96349496	3	3	79	1	0	0	0	0	1	0	0	0	8897	275	10	4	2226	4	LNPEP	5	96349496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34190	96349496	84565764	6336	16653											
LIX1	167410	broad.mit.edu	37	chr5	96430577	96430577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctttgtaaaaccgtaGttcttgtcctgctttcctgg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96430577G>A	ENST00000274382.4	-	6	1019	c.724C>T	c.(724-726)Cta>Tta	p.L242L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	242										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAAAACCGTAGTTCTTGTCCT	0.498																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(724-726)Cta>Tta		Lix1 homolog (chicken)							123	124	123					5																	96430577		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96430577G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.724C>T	5.37:g.96430577G>A						CTD-2215E18.1_ENST00000509481.1_Intron	p.L242L	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	6	1019	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	242					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.724C>T	CCDS4088.1																																																																																				0.498	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		98	454	0	0	0	1	0	98	454					A	96430577	G	A	96430577	2	1	79	1	0	0	0	0	0	0	0	1	8864	1020	36	2		2	LIX1	5	96430577	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81081	96430577	84484683	6337	16654											
RGMB	285704	broad.mit.edu	37	chr5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacctgacccttgccatcCgtatgcctgaagacctggcc	9	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000513185.1	+	3	1316	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	RGMB_ENST00000308234.7_Missense_Mutation_p.R335C			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	294					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1003-1005)Cgt>Tgt		repulsive guidance molecule family member b							44	46	45					5																	98129023		2152	4241	6393	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129023C>T	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.880C>T	5.37:g.98129023C>T	ENSP00000423256:p.Arg294Cys					RGMB_ENST00000513185.1_Missense_Mutation_p.R294C	p.R335C	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1405	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	294					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1003C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.580895	0.65992	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.88818	-2.43;-2.43	5.78	5.78	0.91487	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95388	0.8479	10	0.87932	D	0	-20.8999	19.9851	0.97342	0.0:1.0:0.0:0.0	.	294	Q6NW40	RGMB_HUMAN	C	335;294	ENSP00000308219:R335C;ENSP00000423256:R294C	ENSP00000308219:R335C	R	+	1	0	RGMB	98156923	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	4.911000	0.63328	2.727000	0.93392	0.655000	0.94253	CGT		0.612	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		28	104	0	0	0	1	0	28	104					T	98129023	C	T	98129023	3	4	79	1	0	0	0	0	1	0	0	0	13331	652	23	1	1017	1	RGMB	5	98129023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698446	98129023	82786237	6338	16655											
CHD1	1105	broad.mit.edu	37	chr5	98209328	98209328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgaagaactatccttTaatgctttaatgcaaccatt	5	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1180					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3538-3540)ttA>ttG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						147	135	139					5																	98209328		2203	4300	6503	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98209328T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3540A>G	5.37:g.98209328T>C							p.L1180L	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	25	3689	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1180					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3540A>G	CCDS34204.1																																																																																				0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		54	207	0	0	0	1	0	54	207					C	98209328	T	C	98209328	2	2	79	1	0	0	0	0	0	0	0	1	3332	1751	61	4		4	CHD1	5	98209328	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80305	98209328	82705932	6339	16656											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtcacttaccctctgAcagcatgaataagtctcaat	5	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	264					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|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)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(790-792)gTc>gGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							103	92	96					5																	100191813		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191813A>C	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.791T>G	5.37:g.100191813A>C	ENSP00000231461:p.Val264Gly						p.V264G	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	1101	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	264					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.791T>G	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027304	0.75390	.	.	ENSG00000113532	ENST00000231461	T	0.36157	1.27	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.89353	3.025	0.80722	D	1	D	0.63880	0.993	P	0.62813	0.907	T	0.71613	-0.4540	10	0.72032	D	0.01	-8.3466	14.6008	0.68441	1.0:0.0:0.0:0.0	.	264	Q92187	SIA8D_HUMAN	G	264	ENSP00000231461:V264G	ENSP00000231461:V264G	V	-	2	0	ST8SIA4	100219712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	GTC		0.403	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		53	240	0	0	0	1	0	53	240					C	100191813	A	C	100191813	3	2	79	1	0	0	0	0	1	0	0	0	15286	275	10	4	296	4	ST8SIA4	5	100191813	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1982485	100191813	80723447	6340	16657											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttatttctgttttcctttCaatacaggaacagttgtaat	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1645-1647)Gaa>Aaa		solute carrier organic anion transporter family, member 4C1							74	81	79					5																	101583122		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101583122C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1645G>A	5.37:g.101583122C>T	ENSP00000309741:p.Glu549Lys						p.E549K	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	1931	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	549			Kazal-like.			Missense_Mutation	SNP	ENST00000310954.6	37	c.1645G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006002	0.07866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.549817	0.18733	N	0.132698	T	0.23054	0.0557	N	0.12961	0.28	0.37272	D	0.907466	B	0.02656	0.0	B	0.11329	0.006	T	0.11665	-1.0578	10	0.06757	T	0.87	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	549	Q6ZQN7	SO4C1_HUMAN	K	549	ENSP00000309741:E549K	ENSP00000309741:E549K	E	-	1	0	SLCO4C1	101611021	0.927000	0.31430	0.846000	0.33378	0.157000	0.22087	1.816000	0.38992	1.586000	0.49944	0.655000	0.94253	GAA		0.299	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		95	398	0	0	0	1	0	95	398					T	101583122	C	T	101583122	3	4	79	1	0	0	0	0	1	0	0	0	14780	835	29	2	545	2	SLCO4C1	5	101583122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1391309	101583122	79332138	6341	16658											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgacgcagacaagcggCgcaggatgtctgggctggag	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAAGCGGCGCAGGATGTC	0.572																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(61-63)cGc>cAc		solute carrier organic anion transporter family, member 4C1							71	80	77					5																	101631905		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631905C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.62G>A	5.37:g.101631905C>T	ENSP00000309741:p.Arg21His						p.R21H	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	348	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	21						Missense_Mutation	SNP	ENST00000310954.6	37	c.62G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734184	0.15574	.	.	ENSG00000173930	ENST00000310954	T	0.46451	0.87	4.11	2.32	0.28847	.	2.458350	0.01476	N	0.016471	T	0.35970	0.0950	L	0.42245	1.32	0.21386	N	0.999706	B	0.29432	0.244	B	0.18561	0.022	T	0.19031	-1.0318	10	0.48119	T	0.1	.	6.0552	0.19807	0.0:0.7624:0.0:0.2376	.	21	Q6ZQN7	SO4C1_HUMAN	H	21	ENSP00000309741:R21H	ENSP00000309741:R21H	R	-	2	0	SLCO4C1	101659804	0.640000	0.27243	0.793000	0.32043	0.076000	0.17211	0.117000	0.15583	0.379000	0.24794	0.591000	0.81541	CGC		0.572	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		60	273	0	0	0	1	0	60	273					T	101631905	C	T	101631905	3	4	79	1	0	0	0	0	1	0	0	0	14780	768	27	1	2164	1	SLCO4C1	5	101631905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48783	101631905	79283355	6342	16659											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatgaagcagcgaatgTtattgcaacactcacagcag	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	104	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(310-312)aAc>aGc		solute carrier organic anion transporter family, member 6A1							91	90	91					5																	101834238		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834238T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.311A>G	5.37:g.101834238T>C	ENSP00000421339:p.Asn104Ser					SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S	p.N104S			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	482	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	104			Cys-rich.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.311A>G	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999617	0.35320	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46819	0.93;0.93;0.95;0.86;0.86	3.52	-0.11	0.13580	.	0.406962	0.21428	N	0.074706	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	1	D;P;D	0.65815	0.995;0.799;0.968	D;B;P	0.66716	0.946;0.12;0.507	T	0.32134	-0.9918	10	0.48119	T	0.1	.	5.7854	0.18331	0.0:0.3383:0.0:0.6617	.	104;104;104	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	104	ENSP00000421339:N104S;ENSP00000369135:N104S;ENSP00000373671:N104S;ENSP00000421990:N104S;ENSP00000369138:N104S	ENSP00000369135:N104S	N	-	2	0	SLCO6A1	101862137	0.001000	0.12720	0.010000	0.14722	0.051000	0.14879	-0.108000	0.10857	-0.017000	0.14103	0.397000	0.26171	AAC		0.537	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		90	420	0	0	0	1	0	90	420					C	101834238	T	C	101834238	3	2	79	1	0	0	0	0	1	0	0	0	14782	1725	60	4	1900	4	SLCO6A1	5	101834238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202333	101834238	79081022	6343	16660											
PAM	5066	broad.mit.edu	37	chr5	102295657	102295657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcagtttctttcatgacCtgtacccagaatgtagctcc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	328	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(982-984)acC>acA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						152	137	142					5																	102295657		2203	4300	6503	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102295657C>A	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.984C>A	5.37:g.102295657C>A						PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR	p.T328T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	12	1454	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	328			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.984C>A	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143010	0.21205	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	2.75	0.32379	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	3.1965	0.06635	0.1252:0.5677:0.1214:0.1858	.	.	.	.	M	101	.	.	L	+	1	2	PAM	102323556	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	0.210000	0.17455	0.733000	0.32492	0.460000	0.39030	CTG		0.408	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		88	368	1	0	3.98749e-38	1	4.80009e-38	88	368					A	102295657	C	A	102295657	2	1	79	1	0	0	0	0	0	0	0	1	11454	668	24	3		3	PAM	5	102295657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461419	102295657	78619603	6344	16661											
PAM	5066	broad.mit.edu	37	chr5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaaatgtatttgcaAtttcatatataccaggtatt	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2200-2202)Att>Gtt		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						81	85	84					5																	102343346		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102343346A>G	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2200A>G	5.37:g.102343346A>G	ENSP00000396493:p.Ile734Val					PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V	p.I734V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	19	2670	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	734			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.2200A>G	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.315|7.315	0.615794|0.615794	0.14129|0.14129	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	D;D;D;T;D;D;D|.	0.89485|.	-2.52;-2.52;-2.52;0.61;-2.52;-2.52;-2.52|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Six-bladed beta-propeller, TolB-like (1);|.	0.097209|.	0.64402|.	D|.	0.000001|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.05306|0.05306	-0.075|-0.075	0.45634|0.45634	D|D	0.998561|0.998561	B;B;B;B;B;B|.	0.14805|.	0.003;0.006;0.003;0.004;0.011;0.011|.	B;B;B;B;B;B|.	0.22880|.	0.042;0.019;0.042;0.01;0.042;0.042|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.02654|.	T|.	1|.	.|.	7.4511|7.4511	0.27240|0.27240	0.838:0.0:0.162:0.0|0.838:0.0:0.162:0.0	.|.	637;734;734;734;734;627|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	V|S	734;734;627;114;734;637;734|506	ENSP00000396493:I734V;ENSP00000282992:I734V;ENSP00000314638:I627V;ENSP00000369113:I114V;ENSP00000306100:I734V;ENSP00000274392:I637V;ENSP00000403461:I734V|.	ENSP00000274392:I637V|.	I|N	+|+	1|2	0|0	PAM|PAM	102371245|102371245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.422000|3.422000	0.52749|0.52749	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.333	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		47	168	0	0	0	1	0	47	168					G	102343346	A	G	102343346	3	3	79	1	0	0	0	0	1	0	0	0	11454	101	4	4	2274	4	PAM	5	102343346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47689	102343346	78571914	6345	16662											
PAM	5066	broad.mit.edu	37	chr5	102364643	102364643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcaagccgtaagggCtacagtcgaaaagggtttga	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000379787.4_Silent_p.G294G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	932	Interaction with RASSF9. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2794-2796)ggC>ggA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						114	112	113					5																	102364643		2203	4300	6503	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102364643C>A	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2796C>A	5.37:g.102364643C>A						PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000379787.4_Silent_p.G294G	p.G932G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	25	3266	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	932			Interaction with RASSF9 (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.2796C>A	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.725|3.725	-0.056777|-0.056777	0.07362|0.07362	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.03|6.03	0.07|0.07	0.14376|0.14376	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42749|0.42749	-0.9433|-0.9433	4|4	.|.	.|.	.|.	.|.	7.9509|7.9509	0.30014|0.30014	0.0959:0.5577:0.0:0.3464|0.0959:0.5577:0.0:0.3464	.|.	.|.	.|.	.|.	D|I	209|638	.|.	.|.	A|L	+|+	2|1	0|2	PAM|PAM	102392542|102392542	0.988000|0.988000	0.35896|0.35896	0.976000|0.976000	0.42696|0.42696	0.733000|0.733000	0.41908|0.41908	0.278000|0.278000	0.18753|0.18753	-0.258000|-0.258000	0.09446|0.09446	-0.797000|-0.797000	0.03246|0.03246	GCT|CTA		0.448	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		53	257	1	0	2.78941e-39	1	3.37203e-39	53	257					A	102364643	C	A	102364643	2	1	79	1	0	0	0	0	0	0	0	1	11454	784	28	3		3	PAM	5	102364643	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21297	102364643	78550617	6346	16663											
NUDT12	83594	broad.mit.edu	37	chr5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctctagtgaaccagcGggcatcctctatttcattct	7	12	4	1	rs373323160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000230792.2	-	6	1354	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	420	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1258-1260)Cgc>Tgc		nudix (nucleoside diphosphate linked moiety X)-type motif 12		G	CYS/ARG	0,4404		0,0,2202	154	149	151		1258	5.8	1	5		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUDT12	NM_031438.2	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	420/463	102887938	1,13003	2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102887938G>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1258C>T	5.37:g.102887938G>A	ENSP00000230792:p.Arg420Cys					NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C	p.R420C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1354	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	420			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1258C>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492679	0.64074	0.0	1.16E-4	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09723	2.95;2.95	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.045576	0.85682	D	0.000000	T	0.26846	0.0657	M	0.85630	2.765	0.80722	D	1	P;D	0.54964	0.908;0.969	B;P	0.50162	0.244;0.633	T	0.02411	-1.1163	10	0.62326	D	0.03	-7.224	14.1623	0.65454	0.0714:0.0:0.9286:0.0	.	402;420	E7EM93;Q9BQG2	.;NUD12_HUMAN	C	420;402	ENSP00000230792:R420C;ENSP00000424521:R402C	ENSP00000230792:R420C	R	-	1	0	NUDT12	102915837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.724000	0.93272	0.650000	0.86243	CGC		0.398	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		74	374	0	0	0	1	0	74	374					A	102887938	G	A	102887938	3	1	79	1	0	0	0	0	1	0	0	0	10770	1116	39	1	138	1	NUDT12	5	102887938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523295	102887938	78027322	6347	16664											
FBXL17	64839	broad.mit.edu	37	chr5	107216798	107216798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctgtgcaatcagggtGgctccttggtctgtgatttc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000542267.1	-	8	2311	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_ENST00000359660.5_Silent_p.A237A|FBXL17_ENST00000496714.1_Silent_p.A237A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	635										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATCAGGGTGGCTCCTTGGT	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1903-1905)gcC>gcT		F-box and leucine-rich repeat protein 17							203	180	188					5																	107216798		2202	4300	6502	SO:0001819	synonymous_variant	64839							g.chr5:107216798G>A	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1905C>T	5.37:g.107216798G>A						FBXL17_ENST00000496714.1_Silent_p.A237A|FBXL17_ENST00000359660.5_Silent_p.A237A	p.A635A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2311	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	635					A1A4E3	Silent	SNP	ENST00000542267.1	37	c.1905C>T	CCDS54886.1																																																																																				0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				52	590	0	0	0	1	0	52	590					A	107216798	G	A	107216798	2	1	79	1	0	0	0	0	0	0	0	1	5738	1335	47	2		2	FBXL17	5	107216798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4328860	107216798	73698462	6348	16665											
FBXL17	64839	broad.mit.edu	37	chr5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttggttaggtgaatgactCctttagaagtgactgaacaa	10	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000542267.1	-	5	2001	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	532										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTGAATGACTCCTTTAGAAGT	0.398																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1594-1596)gGa>gAa		F-box and leucine-rich repeat protein 17							116	107	110					5																	107559841		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107559841C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1595G>A	5.37:g.107559841C>T	ENSP00000437464:p.Gly532Glu					FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E|FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E	p.G532E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	5	2001	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	532					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1595G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613456	0.87359	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17213	2.29;4.3;2.29	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.41627	0.1167	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.16719	-1.0393	10	0.72032	D	0.01	.	19.3264	0.94264	0.0:1.0:0.0:0.0	.	532;134	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	134;532;134	ENSP00000352683:G134E;ENSP00000437464:G532E;ENSP00000418111:G134E	ENSP00000352683:G134E	G	-	2	0	FBXL17	107587740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.586000	0.87340	0.591000	0.81541	GGA		0.398	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	186	0	0	0	1	0	43	186					T	107559841	C	T	107559841	3	4	79	1	0	0	0	0	1	0	0	0	5738	855	30	2	530	2	FBXL17	5	107559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343043	107559841	73355419	6349	16666											
FER	2241	broad.mit.edu	37	chr5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttacataggtgttcatcaGcagatagaggcagagatgat	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000536402.1_Missense_Mutation_p.Q119H|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGTTCATCAGCAGATAGAGG	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(355-357)caG>caT		fer (fps/fes related) tyrosine kinase							173	154	160					5																	108168620		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108168620G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.357G>T	5.37:g.108168620G>T	ENSP00000281092:p.Gln119His					FER_ENST00000536402.1_Missense_Mutation_p.Q119H|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	p.Q119H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	4	741	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	119			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.357G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170539	0.78452	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44482	0.92;0.92	6.11	3.36	0.38483	.	0.052287	0.85682	D	0.000000	T	0.52158	0.1717	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.57324	0.818;0.72	T	0.51309	-0.8722	10	0.66056	D	0.02	-11.7439	10.5961	0.45338	0.2783:0.0:0.7217:0.0	.	119;119	Q6PEJ9;P16591	.;FER_HUMAN	H	119	ENSP00000281092:Q119H;ENSP00000442627:Q119H	ENSP00000281092:Q119H	Q	+	3	2	FER	108196519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	0.450000	0.26774	-0.136000	0.14681	CAG		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		108	410	1	0	2.96211e-45	1	3.63119e-45	108	410					T	108168620	G	T	108168620	3	4	79	1	0	0	0	0	1	0	0	0	5838	962	34	3	363	3	FER	5	108168620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608779	108168620	72746640	6350	16667											
FER	2241	broad.mit.edu	37	chr5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataattaggtctccaaaaTctgcactgggctcttcagca	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	437					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCCAAAATCTGCACTGGG	0.378																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1309-1311)Tct>Gct		fer (fps/fes related) tyrosine kinase							117	123	121					5																	108281903		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108281903T>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1309T>G	5.37:g.108281903T>G	ENSP00000281092:p.Ser437Ala					FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	p.S437A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	11	1693	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	437					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1309T>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885594	0.17540	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.152771	0.64402	D	0.000011	T	0.74238	0.3690	M	0.70595	2.14	0.42790	D	0.993896	B	0.06786	0.001	B	0.04013	0.001	T	0.72043	-0.4409	10	0.51188	T	0.08	-12.5668	15.7979	0.78424	0.0:0.0:0.0:1.0	.	437	P16591	FER_HUMAN	A	437;262	ENSP00000281092:S437A;ENSP00000394297:S262A	ENSP00000281092:S437A	S	+	1	0	FER	108309802	1.000000	0.71417	0.989000	0.46669	0.655000	0.38815	3.468000	0.53086	2.196000	0.70406	0.402000	0.26972	TCT		0.378	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		101	402	0	0	0	1	0	101	402					G	108281903	T	G	108281903	3	3	79	1	0	0	0	0	1	0	0	0	5838	1435	50	4	1343	4	FER	5	108281903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113283	108281903	72633357	6351	16668											
FER	2241	broad.mit.edu	37	chr5	108290635	108290635	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatacaatatgttgatgTacgtttccagtttagttcat	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TATGTTGATGTACGTTTCCAG	0.348																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.e12+2		fer (fps/fes related) tyrosine kinase							90	89	89					5																	108290635		2202	4299	6501	SO:0001630	splice_region_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290635T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1533+2T>C	5.37:g.108290635T>C						FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site		NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1917	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)						B2RCR4|B4DSQ2|H2FLB8	Splice_Site	SNP	ENST00000281092.4	37		CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407503	0.83340	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0679	0.72011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER	108318534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.012000	0.88631	1.941000	0.56285	0.455000	0.32223	.		0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	Intron	71	350	0	0	0	1	0	71	350					C	108290635	T	C	108290635	5	2	79	1	0	0	0	0	0	0	1	0	5838	1652	57	4	1573	4	FER	5	108290635	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8732	108290635	72624625	6352	16669											
FER	2241	broad.mit.edu	37	chr5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaacatgtatcgattcGagggcactgggttttcaaac	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTATCGATTCGAGGGCACTGG	0.343																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1549-1551)Gag>Aag		fer (fps/fes related) tyrosine kinase							121	116	118					5																	108294941		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108294941G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1549G>A	5.37:g.108294941G>A	ENSP00000281092:p.Glu517Lys					FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	p.E517K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	13	1933	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	517			SH2.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1549G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588898	0.96590	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.63255	-0.03;-0.03	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78404	-0.2217	10	0.72032	D	0.01	-23.2857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	517	P16591	FER_HUMAN	K	517;342	ENSP00000281092:E517K;ENSP00000394297:E342K	ENSP00000281092:E517K	E	+	1	0	FER	108322840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.343	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		59	255	0	0	0	1	0	59	255					A	108294941	G	A	108294941	3	1	79	1	0	0	0	0	1	0	0	0	5838	1059	37	1	1591	1	FER	5	108294941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	108294941	72620319	6353	16670											
FER	2241	broad.mit.edu	37	chr5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacctagggaccttgctgCaagaaactgcctggtaggtg	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	687	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACCTTGCTGCAAGAAACTGC	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2059-2061)gCa>gTa		fer (fps/fes related) tyrosine kinase							127	122	124					5																	108516459		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516459C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2060C>T	5.37:g.108516459C>T	ENSP00000281092:p.Ala687Val					FER_ENST00000438717.2_Missense_Mutation_p.A512V	p.A687V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2444	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	687			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2060C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117416	0.94385	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.37058	1.22;1.22	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77755	-0.2469	10	0.87932	D	0	-12.7602	18.8338	0.92153	0.0:1.0:0.0:0.0	.	687	P16591	FER_HUMAN	V	687;512	ENSP00000281092:A687V;ENSP00000394297:A512V	ENSP00000281092:A687V	A	+	2	0	FER	108544358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.434000	0.82447	0.650000	0.86243	GCA		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		78	419	0	0	0	1	0	78	419					T	108516459	C	T	108516459	3	4	79	1	0	0	0	0	1	0	0	0	5838	710	25	2	2122	2	FER	5	108516459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221518	108516459	72398801	6354	16671											
FER	2241	broad.mit.edu	37	chr5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccattaaatggacagcacCggaagctcttaattatggta	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACAGCACCGGAAGCTCTT	0.368																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2185-2187)cCg>cTg		fer (fps/fes related) tyrosine kinase							90	86	87					5																	108516585		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516585C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2186C>T	5.37:g.108516585C>T	ENSP00000281092:p.Pro729Leu					FER_ENST00000438717.2_Missense_Mutation_p.P554L	p.P729L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2570	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	729			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2186C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874551	0.91664	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.79749	-1.3;-1.3	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93461	0.6810	10	0.87932	D	0	-15.3907	19.6891	0.95991	0.0:1.0:0.0:0.0	.	729	P16591	FER_HUMAN	L	729;554	ENSP00000281092:P729L;ENSP00000394297:P554L	ENSP00000281092:P729L	P	+	2	0	FER	108544484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.641000	0.89580	0.650000	0.86243	CCG		0.368	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		70	334	0	0	0	1	0	70	334					T	108516585	C	T	108516585	3	4	79	1	0	0	0	0	1	0	0	0	5838	652	23	1	2248	1	FER	5	108516585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	108516585	72398675	6355	16672											
MAN2A1	4124	broad.mit.edu	37	chr5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcttcttacctgatgGtaatgccaaggtaagtggta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	814					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACCTGATGGTAATGCCAAG	0.343																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2440-2442)gGt>gTt		mannosidase, alpha, class 2A, member 1							91	89	90					5																	109156033		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109156033G>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2441G>T	5.37:g.109156033G>T	ENSP00000261483:p.Gly814Val						p.G814V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	15	3493	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	814					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2441G>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677093	0.68042	.	.	ENSG00000112893	ENST00000261483	D	0.82081	-1.57	5.97	5.97	0.96955	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.356317	0.33272	N	0.005098	D	0.93406	0.7897	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93821	0.7119	10	0.72032	D	0.01	-12.4663	20.0338	0.97549	0.0:0.0:1.0:0.0	.	814	Q16706	MA2A1_HUMAN	V	814	ENSP00000261483:G814V	ENSP00000261483:G814V	G	+	2	0	MAN2A1	109183932	1.000000	0.71417	0.960000	0.40013	0.574000	0.36063	5.563000	0.67352	2.836000	0.97738	0.655000	0.94253	GGT		0.343	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			49	191	1	0	2.11614e-10	1	2.24326e-10	49	191					T	109156033	G	T	109156033	3	4	79	1	0	0	0	0	1	0	0	0	9255	1261	44	3	2499	3	MAN2A1	5	109156033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	639448	109156033	71759227	6356	16673											
MAN2A1	4124	broad.mit.edu	37	chr5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A													tacagtcatctttgccttgtGacattcatctggttaatttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1045					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGCCTTGTGACATTCATCT	0.353																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3133-3135)Gac>Aac		mannosidase, alpha, class 2A, member 1							138	116	124					5																	109190997		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109190997G>A		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3133G>A	5.37:g.109190997G>A	ENSP00000261483:p.Asp1045Asn					MAN2A1_ENST00000505313.1_3'UTR	p.D1045N	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4185	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1045					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3133G>A	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283360	0.95489	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.88570	2.965	0.80722	D	1	P	0.50066	0.931	P	0.62649	0.905	D	0.92695	0.6170	10	0.72032	D	0.01	-19.9166	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1045	Q16706	MA2A1_HUMAN	N	1045	ENSP00000261483:D1045N	ENSP00000261483:D1045N	D	+	1	0	MAN2A1	109218896	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.029000	0.88807	2.861000	0.98227	0.655000	0.94253	GAC		0.353	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			34	192	0	0	0	1	0	34	192					A	109190997	G	A	109190997	3	1	79	1	0	0	0	0	1	0	0	0	9255	1290	45	2	3211	2	MAN2A1	5	109190997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34964	109190997	71724263	6357	16674	97	2									
MAN2A1	4124	broad.mit.edu	37	chr5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C													tttgccttgtgacattcatcTggttaatttgagaacaatac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1048					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACATTCATCTGGTTAATTTG	0.358																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3142-3144)cTg>cCg		mannosidase, alpha, class 2A, member 1							125	106	112					5																	109191007		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109191007T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3143T>C	5.37:g.109191007T>C	ENSP00000261483:p.Leu1048Pro					MAN2A1_ENST00000505313.1_3'UTR	p.L1048P	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4195	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1048					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3143T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306901	0.81247	.	.	ENSG00000112893	ENST00000261483	D	0.87334	-2.24	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.074033	0.56097	D	0.000028	D	0.94503	0.8230	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-11.097	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1048	Q16706	MA2A1_HUMAN	P	1048	ENSP00000261483:L1048P	ENSP00000261483:L1048P	L	+	2	0	MAN2A1	109218906	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.560000	0.73950	2.308000	0.77769	0.533000	0.62120	CTG		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			44	181	0	0	0	1	0	44	181					C	109191007	T	C	109191007	3	2	79	1	0	0	0	0	1	0	0	0	9255	1580	55	4	3221	4	MAN2A1	5	109191007	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	109191007	71724253	6358	16675	97	2									
MAN2A1	4124	broad.mit.edu	37	chr5	109202616	109202616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcactatccttgatgCattcacctcccggcactcag	5	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	ENST00000261483.4	+	22	4404	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1118					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATCCTTGATGCATTCACCTCC	0.358																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3352-3354)Cat>Tat		mannosidase, alpha, class 2A, member 1							123	113	116					5																	109202616		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109202616C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3352C>T	5.37:g.109202616C>T	ENSP00000261483:p.His1118Tyr						p.H1118Y	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	22	4404	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1118					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3352C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410203	0.11812	.	.	ENSG00000112893	ENST00000261483	D	0.82893	-1.66	6.03	4.25	0.50352	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.203177	0.44483	D	0.000453	T	0.76821	0.4041	L	0.35487	1.065	0.45662	D	0.998586	B	0.27264	0.173	B	0.35688	0.208	T	0.68777	-0.5319	9	.	.	.	-6.2768	12.481	0.55842	0.0:0.866:0.0:0.134	.	1118	Q16706	MA2A1_HUMAN	Y	1118	ENSP00000261483:H1118Y	.	H	+	1	0	MAN2A1	109230515	1.000000	0.71417	0.964000	0.40570	0.797000	0.45037	4.052000	0.57420	0.881000	0.35993	0.655000	0.94253	CAT		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			11	410	0	0	0	1	0	11	410					T	109202616	C	T	109202616	3	4	79	1	0	0	0	0	1	0	0	0	9255	710	25	2	3438	2	MAN2A1	5	109202616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11609	109202616	71712644	6359	16676											
SLC25A46	91137	broad.mit.edu	37	chr5	110083868	110083868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgttcaatttagggacCtagagccctgtggaaaggaa	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110083868C>A	ENST00000355943.3	+	5	593	c.467C>A	c.(466-468)cCt>cAt	p.P156H	SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	156					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		ATTTAGGGACCTAGAGCCCTG	0.358																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(466-468)cCt>cAt		solute carrier family 25, member 46							132	129	130					5																	110083868		2202	4300	6502	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110083868C>A	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.467C>A	5.37:g.110083868C>A	ENSP00000348211:p.Pro156His					SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	p.P156H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	5	593	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	156					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.467C>A	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322865	0.41096	.	.	ENSG00000164209	ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.44	4.57	0.56435	Mitochondrial carrier domain (2);	0.302356	0.36815	N	0.002400	T	0.74245	0.3691	L	0.56769	1.78	0.41757	D	0.989698	P;P	0.51653	0.947;0.947	P;B	0.44561	0.453;0.408	T	0.74743	-0.3562	10	0.45353	T	0.12	-10.1322	10.0431	0.42171	0.0:0.8448:0.0:0.1552	.	65;156	B4DY98;Q96AG3	.;S2546_HUMAN	H	65;156;10;156;10	ENSP00000424136:P65H;ENSP00000348211:P156H;ENSP00000399717:P156H;ENSP00000425708:P10H	ENSP00000348211:P156H	P	+	2	0	SLC25A46	110111767	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.155000	0.58131	1.296000	0.44742	0.563000	0.77884	CCT		0.358	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		20	309	1	0	7.45023e-12	1	7.97024e-12	20	309					A	110083868	C	A	110083868	3	1	79	1	0	0	0	0	1	0	0	0	14561	681	24	3	485	3	SLC25A46	5	110083868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881252	110083868	70831392	6360	16677											
TSLP	85480	broad.mit.edu	37	chr5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcgcgtcgctcgccaaaGaaatgttcgccatgaaaact	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000344895.3	+	3	485	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000379706.4_5'UTR|TSLP_ENST00000420978.2_Missense_Mutation_p.E96K	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space (GO:0005615)		p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522																																						ENST00000420978.2																			1	Substitution - Nonsense(1)	p.E96*(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(286-288)Gaa>Aaa		thymic stromal lymphopoietin							143	150	147					5																	110409278		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110409278G>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.286G>A	5.37:g.110409278G>A	ENSP00000339804:p.Glu96Lys					TSLP_ENST00000344895.3_Missense_Mutation_p.E96K|TSLP_ENST00000379706.4_5'UTR	p.E96K			Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	4	1708	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	96					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.286G>A	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658779	0.47467	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999999	B	0.27229	0.172	B	0.29598	0.104	T	0.19778	-1.0295	9	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	96	Q969D9	TSLP_HUMAN	K	96	.	ENSP00000339804:E96K	E	+	1	0	TSLP	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA		0.522	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		179	791	0	0	0	1	0	179	791					A	110409278	G	A	110409278	3	1	79	1	0	0	0	0	1	0	0	0	16681	943	33	2	296	2	TSLP	5	110409278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325410	110409278	70505982	6361	16678											
CAMK4	814	broad.mit.edu	37	chr5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaagctctccagcatcCgtgggtcacaggtaaagcag	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTCCAGCATCCGTGGGTCACA	0.408																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(892-894)cCg>cTg		calcium/calmodulin-dependent protein kinase IV							94	93	93					5																	110818547		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110818547C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.893C>T	5.37:g.110818547C>T	ENSP00000282356:p.Pro298Leu					CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L	p.P298L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	10	1291	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	298			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.893C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977222	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	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	0.81302	0.4794	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.87932	D	0	.	19.0311	0.92957	0.0:1.0:0.0:0.0	.	298	Q16566	KCC4_HUMAN	L	298	ENSP00000422634:P298L;ENSP00000282356:P298L	ENSP00000282356:P298L	P	+	2	0	CAMK4	110846446	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	7.388000	0.79795	2.482000	0.83794	0.563000	0.77884	CCG		0.408	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		89	390	0	0	0	1	0	89	390					T	110818547	C	T	110818547	3	4	79	1	0	0	0	0	1	0	0	0	2612	652	23	1	931	1	CAMK4	5	110818547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409269	110818547	70096713	6362	16679											
STARD4	134429	broad.mit.edu	37	chr5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtattttgcctctcatAaagcttttcgtaaatcacca	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	205	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TGCCTCTCATAAAGCTTTTCG	0.408																																						ENST00000296632.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(613-615)tTa>tCa		StAR-related lipid transfer (START) domain containing 4							138	129	132					5																	110835588		2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110835588A>G	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.614T>C	5.37:g.110835588A>G	ENSP00000296632:p.Leu205Ser					STARD4_ENST00000512160.1_3'UTR	p.L205S	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	748	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	205			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.614T>C	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912125	0.72983	.	.	ENSG00000164211	ENST00000296632	D	0.92099	-2.97	4.85	4.85	0.62838	Lipid-binding START (1);	0.000000	0.56097	D	0.000021	D	0.95066	0.8402	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95434	0.8519	10	0.87932	D	0	-11.0684	13.4591	0.61217	1.0:0.0:0.0:0.0	.	205	Q96DR4	STAR4_HUMAN	S	205	ENSP00000296632:L205S	ENSP00000296632:L205S	L	-	2	0	STARD4	110863487	0.862000	0.29867	0.005000	0.12908	0.258000	0.26162	3.302000	0.51849	2.173000	0.68751	0.528000	0.53228	TTA		0.408	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		70	300	0	0	0	1	0	70	300					G	110835588	A	G	110835588	3	3	79	1	0	0	0	0	1	0	0	0	15311	372	13	4	7	4	STARD4	5	110835588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17041	110835588	70079672	6363	16680											
STARD4	134429	broad.mit.edu	37	chr5	110835647	110835647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccatggctgtatctacCgcagactgaggaatcatccc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413																																						ENST00000296632.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(553-555)gcG>gcA		StAR-related lipid transfer (START) domain containing 4							171	161	164					5																	110835647		2202	4300	6502	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110835647C>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.555G>A	5.37:g.110835647C>T						STARD4_ENST00000512160.1_3'UTR	p.A185A	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	689	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	185			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.555G>A	CCDS4104.1																																																																																				0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		104	414	0	0	0	1	0	104	414					T	110835647	C	T	110835647	2	4	79	1	0	0	0	0	0	0	0	1	15311	639	23	1		1	STARD4	5	110835647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	110835647	70079613	6364	16681											
C5orf13	9315	broad.mit.edu	37	chr5	111071197	111071197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagacaaagagttctgggTaataaacctatagagacaca	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111071197T>C	ENST00000379671.3	-	4	275	c.11A>G	c.(10-12)tAc>tGc	p.Y4C	NREP_ENST00000419114.2_Missense_Mutation_p.Y4C|NREP_ENST00000509427.1_Missense_Mutation_p.Y4C|NREP_ENST00000257435.7_Missense_Mutation_p.Y4C|NREP_ENST00000450761.2_Missense_Mutation_p.Y4C|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.Y4C|NREP_ENST00000509979.1_Missense_Mutation_p.Y4C|NREP_ENST00000395634.3_Missense_Mutation_p.Y48C|NREP_ENST00000455559.2_Missense_Mutation_p.Y4C|NREP_ENST00000515855.1_Missense_Mutation_p.Y4C|NREP_ENST00000509025.1_Missense_Mutation_p.Y4C|NREP_ENST00000446294.2_Missense_Mutation_p.Y4C|NREP_ENST00000453526.2_Missense_Mutation_p.Y4C|NREP_ENST00000508870.1_Missense_Mutation_p.Y4C|STARD4-AS1_ENST00000500779.2_RNA	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	4					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGTTCTGGGTAATAAACCTA	0.398																																						ENST00000379671.3																			0											c.(10-12)tAc>tGc		neuronal regeneration related protein							88	89	89					5																	111071197		2202	4300	6502	SO:0001583	missense	9315					cytoplasm		g.chr5:111071197T>C	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"neuronal protein 3.1"	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.11A>G	5.37:g.111071197T>C	ENSP00000368993:p.Tyr4Cys					NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.Y4C|NREP_ENST00000419114.2_Missense_Mutation_p.Y4C|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_Missense_Mutation_p.Y4C|NREP_ENST00000508870.1_Missense_Mutation_p.Y4C|NREP_ENST00000257435.7_Missense_Mutation_p.Y4C|NREP_ENST00000450761.2_Missense_Mutation_p.Y4C|NREP_ENST00000453526.2_Missense_Mutation_p.Y4C|NREP_ENST00000395634.3_Missense_Mutation_p.Y48C|NREP_ENST00000509025.1_Missense_Mutation_p.Y4C|NREP_ENST00000447165.2_Missense_Mutation_p.Y4C|NREP_ENST00000509979.1_Missense_Mutation_p.Y4C|NREP_ENST00000509427.1_Missense_Mutation_p.Y4C|NREP_ENST00000446294.2_Missense_Mutation_p.Y4C	p.Y4C	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			4	275	-			4					B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	c.11A>G	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555628	0.27739	.	.	ENSG00000134986	ENST00000509025;ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000515855;ENST00000509979;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161;ENST00000507032	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.31	4.11	0.48088	.	0.398139	0.21371	N	0.075628	T	0.39410	0.1077	.	.	.	0.34410	D	0.696253	B;B;B	0.29378	0.243;0.243;0.031	B;B;B	0.33799	0.17;0.17;0.031	T	0.49254	-0.8959	9	0.34782	T	0.22	-1.824	9.4843	0.38919	0.0:0.0815:0.0:0.9185	.	4;48;4	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	C	4;4;4;4;4;48;4;4;4;4;4;4;4;4;4;4;4	ENSP00000426834:Y4C;ENSP00000368993:Y4C;ENSP00000257435:Y4C;ENSP00000408839:Y4C;ENSP00000402965:Y4C;ENSP00000378996:Y48C;ENSP00000422278:Y4C;ENSP00000423320:Y4C;ENSP00000416617:Y4C;ENSP00000399766:Y4C;ENSP00000422630:Y4C;ENSP00000403383:Y4C;ENSP00000392559:Y4C;ENSP00000427149:Y4C;ENSP00000427476:Y4C;ENSP00000422046:Y4C	ENSP00000257435:Y4C	Y	-	2	0	C5orf13	111099096	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	2.011000	0.40922	0.935000	0.37341	0.533000	0.62120	TAC		0.398	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		13	257	0	0	0	1	0	13	257					C	111071197	T	C	111071197	3	2	79	1	0	0	0	0	1	0	0	0	2289	1638	57	4	203	4	C5orf13	5	111071197	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	235550	111071197	69844063	6365	16682											
EPB41L4A	64097	broad.mit.edu	37	chr5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatacatctccagggatTtggcagtcctcaagtaattc	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCCAGGGATTTGGCAGTCCT	0.403																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(601-603)aAa>aCa		erythrocyte membrane protein band 4.1 like 4A							126	126	126					5																	111598231		1912	4116	6028	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111598231T>G	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.602A>C	5.37:g.111598231T>G	ENSP00000261486:p.Lys201Thr						p.K201T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	7	878	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	201			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.602A>C	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021391	0.75275	.	.	ENSG00000129595	ENST00000261486	T	0.78481	-1.18	5.54	3.16	0.36331	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.101615	0.64402	D	0.000004	D	0.87819	0.6273	M	0.89030	3	0.37051	D	0.897587	D	0.89917	1.0	D	0.77557	0.99	D	0.88791	0.3278	10	0.87932	D	0	.	8.969	0.35894	0.0:0.1533:0.0:0.8467	.	201	Q9HCS5	E41LA_HUMAN	T	201	ENSP00000261486:K201T	ENSP00000261486:K201T	K	-	2	0	EPB41L4A	111626130	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	1.525000	0.35953	0.489000	0.27749	0.533000	0.62120	AAA		0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			92	410	0	0	0	1	0	92	410					G	111598231	T	G	111598231	3	3	79	1	0	0	0	0	1	0	0	0	5173	1841	64	4	1526	4	EPB41L4A	5	111598231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	527034	111598231	69317029	6366	16683											
EPB41L4A	64097	broad.mit.edu	37	chr5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atacctactgttgatcagttCtttgtgttcagcaagggttt	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	82	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGATCAGTTCTTTGTGTTCA	0.378																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(244-246)Gaa>Aaa		erythrocyte membrane protein band 4.1 like 4A							224	209	214					5																	111615981		1850	4099	5949	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111615981C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.244G>A	5.37:g.111615981C>T	ENSP00000261486:p.Glu82Lys						p.E82K	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	3	520	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	82			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.244G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455780	0.43634	.	.	ENSG00000129595	ENST00000261486	T	0.75589	-0.95	5.74	5.74	0.90152	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.065340	0.64402	D	0.000005	T	0.52403	0.1732	N	0.00894	-1.105	0.40684	D	0.982336	P	0.47253	0.892	P	0.48488	0.579	T	0.61559	-0.7038	10	0.02654	T	1	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	82	Q9HCS5	E41LA_HUMAN	K	82	ENSP00000261486:E82K	ENSP00000261486:E82K	E	-	1	0	EPB41L4A	111643880	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAA		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			218	947	0	0	0	1	0	218	947					T	111615981	C	T	111615981	3	4	79	1	0	0	0	0	1	0	0	0	5173	922	32	2	1900	2	EPB41L4A	5	111615981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	111615981	69299279	6367	16684											
EPB41L4A	64097	broad.mit.edu	37	chr5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtttacgtgatggaataCgtggtcaaggacaacggaac	13	6	1	1	rs528031482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.002					ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(133-135)Gta>Ata		erythrocyte membrane protein band 4.1 like 4A							109	102	104					5																	111643154		1875	4109	5984	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111643154C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.133G>A	5.37:g.111643154C>T	ENSP00000261486:p.Val45Ile						p.V45I	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	2	409	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	45			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.133G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	EPB41L4A	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA		0.383	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			40	201	0	0	0	1	0	40	201					T	111643154	C	T	111643154	3	4	79	1	0	0	0	0	1	0	0	0	5173	536	19	1	2015	1	EPB41L4A	5	111643154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27173	111643154	69272106	6368	16685											
APC	324	broad.mit.edu	37	chr5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaaagactggTattacgctcaacttcagaat	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Missense_Mutation_p.Y158H|APC_ENST00000508376.2_Missense_Mutation_p.Y158H			P25054	APC_HUMAN	adenomatous polyposis coli	158	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGACTGGTATTACGCTCA	0.289		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CI042641	APC	I		c.(472-474)Tat>Cat		adenomatous polyposis coli							94	100	98					5																	112111375		2202	4294	6496	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112111375T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.472T>C	5.37:g.112111375T>C	ENSP00000413133:p.Tyr158His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.Y158H|APC_ENST00000508376.2_Missense_Mutation_p.Y158H	p.Y158H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	5	852	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	158			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.472T>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460506	0.84317	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	L	0.52573	1.65	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.93476	0.6823	10	0.87932	D	0	-14.6976	15.5121	0.75793	0.0:0.0:0.0:1.0	.	160;158	Q4LE70;P25054	.;APC_HUMAN	H	158;168;158;158;158	ENSP00000413133:Y158H;ENSP00000423224:Y168H;ENSP00000257430:Y158H;ENSP00000427089:Y158H;ENSP00000423828:Y158H	ENSP00000257430:Y158H	Y	+	1	0	APC	112139274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.065000	0.61736	0.533000	0.62120	TAT		0.289	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		69	324	0	0	0	1	0	69	324					C	112111375	T	C	112111375	3	2	79	1	0	0	0	0	1	0	0	0	763	1638	57	4	486	4	APC	5	112111375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	468221	112111375	68803885	6369	16686											
APC	324	broad.mit.edu	37	chr5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcgaaaaggacatacttCgtatacgacagcttttacag	7	8	0	0	rs587779805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli	230	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGACATACTTCGTATACGACA	0.308		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(688-690)Cgt>Tgt		adenomatous polyposis coli							80	76	78					5																	112128185		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112128185C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.688C>T	5.37:g.112128185C>T	ENSP00000413133:p.Arg230Cys	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C	p.R230C			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	7	1068	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	230			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.688C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943797	0.73672	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.19	4.31	0.51392	.	0.107791	0.64402	D	0.000016	D	0.94023	0.8085	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	D	0.94601	0.7796	10	0.87932	D	0	-13.2275	15.4696	0.75432	0.1399:0.8601:0.0:0.0	.	230	P25054	APC_HUMAN	C	230	ENSP00000413133:R230C;ENSP00000257430:R230C;ENSP00000427089:R230C;ENSP00000423828:R230C	ENSP00000257430:R230C	R	+	1	0	APC	112156084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.859000	0.55987	1.296000	0.44742	-0.175000	0.13238	CGT		0.308	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		57	237	0	0	0	1	0	57	237					T	112128185	C	T	112128185	3	4	79	1	0	0	0	0	1	0	0	0	763	884	31	1	710	1	APC	5	112128185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16810	112128185	68787075	6370	16687											
APC	324	broad.mit.edu	37	chr5	112154761	112154761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagctcccaagacagctgTatatccatgcgacagtctgg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000257430.4_Silent_p.C344C|APC_ENST00000508376.2_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli	344	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGACAGCTGTATATCCATGC	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1030-1032)tgT>tgC		adenomatous polyposis coli							168	142	151					5																	112154761		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154761T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1032T>C	5.37:g.112154761T>C		TSP Lung(16;0.13)				APC_ENST00000257430.4_Silent_p.C344C|APC_ENST00000508376.2_Silent_p.C344C	p.C344C			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1412	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	344			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.1032T>C	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		119	445	0	0	0	1	0	119	445					C	112154761	T	C	112154761	2	2	79	1	0	0	0	0	0	0	0	1	763	1644	57	4		4	APC	5	112154761	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26576	112154761	68760499	6371	16688											
APC	324	broad.mit.edu	37	chr5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtattgttgggaaattccCggggcagtaaagaggctcgg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000257430.4_Missense_Mutation_p.R374W|APC_ENST00000508376.2_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGGAAATTCCCGGGGCAGTAA	0.517		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1120-1122)Cgg>Tgg		adenomatous polyposis coli							68	63	65					5																	112154849		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154849C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1120C>T	5.37:g.112154849C>T	ENSP00000413133:p.Arg374Trp	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.R374W|APC_ENST00000508376.2_Missense_Mutation_p.R374W	p.R374W			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1500	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	374			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1120C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272903	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.6;-3.3;-2.6;-2.6;-2.78	5.94	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.68317	2.08	0.48288	D	0.999625	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.957	D	0.96078	0.9051	10	0.87932	D	0	-11.186	16.6427	0.85130	0.1303:0.8697:0.0:0.0	.	376;374	Q4LE70;P25054	.;APC_HUMAN	W	374;356;374;374;374	ENSP00000413133:R374W;ENSP00000423224:R356W;ENSP00000257430:R374W;ENSP00000427089:R374W;ENSP00000423828:R374W	ENSP00000257430:R374W	R	+	1	2	APC	112182748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.832000	0.97577	0.650000	0.86243	CGG		0.517	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		11	254	0	0	0	1	0	11	254					T	112154849	C	T	112154849	3	4	79	1	0	0	0	0	1	0	0	0	763	643	23	1	1154	1	APC	5	112154849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	112154849	68760411	6372	16689											
APC	324	broad.mit.edu	37	chr5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaccaagtcagctgcCtgtgtacaaacttctaccat	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1613H			P25054	APC_HUMAN	adenomatous polyposis coli	1613	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCAGCTGCCTGTGTACAAA	0.463		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4837-4839)cCt>cAt		adenomatous polyposis coli							130	134	132					5																	112176129		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176129C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4838C>A	5.37:g.112176129C>A	ENSP00000413133:p.Pro1613His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.P1613H|APC_ENST00000508376.2_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron	p.P1613H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5218	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1613			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4838C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117024	0.77323	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94606	0.7800	9	.	.	.	-19.7075	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1615;1613	Q4LE70;P25054	.;APC_HUMAN	H	1613	ENSP00000413133:P1613H;ENSP00000257430:P1613H;ENSP00000427089:P1613H	.	P	+	2	0	APC	112204028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCT		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		99	838	1	0	5.86298e-51	1	7.2719e-51	99	838					A	112176129	C	A	112176129	3	1	79	1	0	0	0	0	1	0	0	0	763	681	24	3	4896	3	APC	5	112176129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21280	112176129	68739131	6373	16690											
DCP2	167227	broad.mit.edu	37	chr5	112321682	112321682	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagagactttgctaaagcTgatatcctttttattactat	5	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68A	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.e2+1		decapping mRNA 2							150	141	144					5																	112321682		2202	4300	6502	SO:0001630	splice_region_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321682T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.205+1T>C	5.37:g.112321682T>C						DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68_splice	p.A68_splice	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	402	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	68					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Splice_Site	SNP	ENST00000389063.2	37	c.205_splice	CCDS34210.1																																																																																				0.328	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624	Silent	79	377	0	0	0	1	0	79	377					C	112321682	T	C	112321682	5	2	79	1	0	0	0	0	0	0	1	0	4311	1594	55	4	210	4	DCP2	5	112321682	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145553	112321682	68593578	6374	16691											
MCC	4163	broad.mit.edu	37	chr5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgttggaggaaaggCtctcccagggctgcacgctg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S477I|MCC_ENST00000408903.3_Missense_Mutation_p.S730I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	540					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGAAAGGCTCTCCCAGGG	0.617																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1618-1620)aGc>aTc		mutated in colorectal cancers							52	51	52					5																	112399705		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112399705C>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1619G>T	5.37:g.112399705C>A	ENSP00000305617:p.Ser540Ile					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I	p.S540I	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	12	2182	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	540					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1619G>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186537	0.78789	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37752	2.34;2.34;1.18	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	D;D;D	0.80764	0.962;0.994;0.944	T	0.47368	-0.9123	10	0.46703	T	0.11	-22.4174	19.638	0.95744	0.0:1.0:0.0:0.0	.	540;730;540	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	540;477;730	ENSP00000305617:S540I;ENSP00000421615:S477I;ENSP00000386227:S730I	ENSP00000305617:S540I	S	-	2	0	MCC	112427604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.147000	0.71783	2.626000	0.88956	0.655000	0.94253	AGC		0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		86	350	1	0	2.10502e-31	1	2.47866e-31	86	350					A	112399705	C	A	112399705	3	1	79	1	0	0	0	0	1	0	0	0	9414	797	28	3	894	3	MCC	5	112399705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78023	112399705	68515555	6375	16692											
MCC	4163	broad.mit.edu	37	chr5	112676295	112676295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtttgtggagagcaGcctgctgatgcaaagagctt	14	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112676295G>T	ENST00000408903.3	-	3	963	c.548C>A	c.(547-549)gCt>gAt	p.A183D	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTGGAGAGCAGCCTGCTGATG	0.557																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(547-549)gCt>gAt		mutated in colorectal cancers							70	75	73					5																	112676295		2067	4205	6272	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112676295G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.548C>A	5.37:g.112676295G>T	ENSP00000386227:p.Ala183Asp					CTD-2201G3.1_ENST00000416046.2_RNA	p.A183D	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	3	963	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	0					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.548C>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060539	0.08339	.	.	ENSG00000171444	ENST00000408903	T	0.39229	1.09	4.2	1.36	0.22044	.	0.642545	0.12646	N	0.450843	T	0.20414	0.0491	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.12430	T	0.62	-0.0083	5.5	0.16823	0.236:0.0:0.6236:0.1404	.	183	P23508-2	.	D	183	ENSP00000386227:A183D	ENSP00000386227:A183D	A	-	2	0	MCC	112704194	0.979000	0.34478	0.000000	0.03702	0.209000	0.24338	3.270000	0.51600	0.134000	0.18681	0.561000	0.74099	GCT		0.557	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		6	284	1	0	0.00116845	1	0.00118049	6	284					T	112676295	G	T	112676295	3	4	79	1	0	0	0	0	1	0	0	0	9414	971	34	3	2640	3	MCC	5	112676295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276590	112676295	68238965	6376	16693											
MCC	4163	broad.mit.edu	37	chr5	112720690	112720690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtcactgctcgtgggCcaggaagcaattctatccct	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112720690C>T	ENST00000408903.3	-	2	805	c.390G>A	c.(388-390)tgG>tgA	p.W130*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGCTCGTGGGCCAGGAAGCAA	0.473																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(388-390)tgG>tgA		mutated in colorectal cancers							128	126	126					5																	112720690		1933	4153	6086	SO:0001587	stop_gained	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112720690C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.390G>A	5.37:g.112720690C>T	ENSP00000386227:p.Trp130*					CTD-2201G3.1_ENST00000416046.2_RNA	p.W130*	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	805	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	0					D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000408903.3	37	c.390G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	40	8.134648	0.98670	.	.	ENSG00000171444	ENST00000408903	.	.	.	4.7	4.7	0.59300	.	0.119002	0.37906	N	0.001900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.029	17.1098	0.86672	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000386227:W130X	W	-	3	0	MCC	112748589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.417000	0.66423	2.542000	0.85734	0.650000	0.86243	TGG		0.473	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		10	397	0	0	0	1	0	10	397					T	112720690	C	T	112720690	4	4	79	1	0	0	0	0	0	1	0	0	9414	740	26	2	2802	2	MCC	5	112720690	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44395	112720690	68194570	6377	16694											
TSSK1B	83942	broad.mit.edu	37	chr5	112770312	112770312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctcaaagatctcgtaGgtcttaatgatggagcagtg	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATCTCGTAGGTCTTAATGA	0.532																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(223-225)acC>acT		testis-specific serine kinase 1B							59	64	62					5																	112770312		2169	4285	6454	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770312G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.225C>T	5.37:g.112770312G>A						CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.T75T	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	416	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	75			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.225C>T	CCDS4112.1																																																																																				0.532	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		56	234	0	0	0	1	0	56	234					A	112770312	G	A	112770312	2	1	79	1	0	0	0	0	0	0	0	1	16721	987	35	2		2	TSSK1B	5	112770312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49622	112770312	68144948	6378	16695											
YTHDC2	64848	broad.mit.edu	37	chr5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcggcagccggctcctgGcggtggcggaggcggcggcc	20	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000161863.4	+	1	257	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	15	Gly-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCGGCTCCTGGCGGTGGCGGA	0.706																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(43-45)gGc>gTc		YTH domain containing 2							7	8	8					5																	112849636		2038	3998	6036	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112849636G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.44G>T	5.37:g.112849636G>T	ENSP00000161863:p.Gly15Val					YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	1	257	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	15			Gly-rich.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.44G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001738	0.07819	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.08102	4.12;3.13	4.23	1.2	0.21068	.	0.371841	0.19490	N	0.113018	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.51188	T	0.08	.	5.7402	0.18089	0.1115:0.3936:0.4949:0.0	.	15	Q9H6S0	YTDC2_HUMAN	V	15	ENSP00000161863:G15V;ENSP00000423101:G15V	ENSP00000161863:G15V	G	+	2	0	YTHDC2	112877535	0.976000	0.34144	0.002000	0.10522	0.004000	0.04260	2.975000	0.49281	0.308000	0.22923	-0.502000	0.04539	GGC		0.706	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		37	95	1	0	1.67305e-13	1	1.80725e-13	37	95					T	112849636	G	T	112849636	3	4	79	1	0	0	0	0	1	0	0	0	17551	1203	42	3	46	3	YTHDC2	5	112849636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79324	112849636	68065624	6379	16696											
YTHDC2	64848	broad.mit.edu	37	chr5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaacccacctgcaggtGttcgaaaaatagtaagcttc	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000161863.4	+	15	2254	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	681	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTGCAGGTGTTCGAAAAAT	0.284																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2041-2043)Gtt>Att		YTH domain containing 2							56	57	56					5																	112889540		2201	4297	6498	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889540G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2041G>A	5.37:g.112889540G>A	ENSP00000161863:p.Val681Ile					YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	15	2254	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	681			Helicase C-terminal.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.2041G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274031	0.23221	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.75154	-0.91;-0.91	5.51	4.52	0.55395	Helicase, C-terminal (3);	0.121117	0.52532	D	0.000061	T	0.66829	0.2829	M	0.64567	1.98	0.30228	N	0.796184	B	0.06786	0.001	B	0.12837	0.008	T	0.60439	-0.7263	10	0.35671	T	0.21	.	6.275	0.20975	0.3016:0.0:0.6984:0.0	.	681	Q9H6S0	YTDC2_HUMAN	I	681;681;591	ENSP00000161863:V681I;ENSP00000423101:V681I	ENSP00000161863:V681I	V	+	1	0	YTHDC2	112917439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.406000	0.44557	2.572000	0.86782	0.650000	0.86243	GTT		0.284	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		62	169	0	0	0	1	0	62	169					A	112889540	G	A	112889540	3	1	79	1	0	0	0	0	1	0	0	0	17551	1377	48	2	2099	2	YTHDC2	5	112889540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39904	112889540	68025720	6380	16697											
TRIM36	55521	broad.mit.edu	37	chr5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattagaagaagtaggtgaCttgggtataaaaaatttctg	10	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000282369.3	-	10	2062	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000513154.1_Missense_Mutation_p.K635N	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	647	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1903-1905)aaG>aaT		tripartite motif containing 36							98	99	99					5																	114462446		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114462446C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1941G>T	5.37:g.114462446C>A	ENSP00000282369:p.Lys647Asn					TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000282369.3_Missense_Mutation_p.K647N	p.K635N			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	10	2231	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	647			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1905G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860214	0.32884	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.69175	-0.38;-0.38;-0.38	5.73	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200438	0.51477	D	0.000087	T	0.71846	0.3388	L	0.59436	1.845	0.80722	D	1	D;P	0.58970	0.984;0.91	P;P	0.57679	0.825;0.676	T	0.67921	-0.5545	10	0.26408	T	0.33	.	11.5858	0.50918	0.0:0.8068:0.1251:0.0681	.	635;647	E9PFI8;Q9NQ86	.;TRI36_HUMAN	N	647;635;492	ENSP00000282369:K647N;ENSP00000423934:K635N;ENSP00000424259:K492N	ENSP00000282369:K647N	K	-	3	2	TRIM36	114490345	0.998000	0.40836	0.992000	0.48379	0.109000	0.19521	0.968000	0.29357	0.850000	0.35239	-0.150000	0.13652	AAG		0.383	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		60	255	1	0	2.5401e-28	1	2.95449e-28	60	255					A	114462446	C	A	114462446	3	1	79	1	0	0	0	0	1	0	0	0	16563	564	20	3	249	3	TRIM36	5	114462446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1572906	114462446	66452814	6381	16698											
TRIM36	55521	broad.mit.edu	37	chr5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gattcctcgttctccaagatCcacatcatgctcacagccag	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000282369.3	-	3	488	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.D111Y|TRIM36_ENST00000515104.1_5'UTR|TRIM36-IT1_ENST00000503723.1_RNA	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	123					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(331-333)Gat>Tat		tripartite motif containing 36							164	148	153					5																	114483023		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114483023C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.367G>T	5.37:g.114483023C>A	ENSP00000282369:p.Asp123Tyr					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.D123Y	p.D111Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	3	657	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	123					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.331G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508975	0.85282	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87887	-2.31;-2.31;-2.31	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.098563	0.64402	D	0.000002	D	0.88855	0.6550	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.947	D	0.83406	0.0025	10	0.02654	T	1	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	111;123	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	123;111;121	ENSP00000282369:D123Y;ENSP00000423934:D111Y;ENSP00000424743:D121Y	ENSP00000282369:D123Y	D	-	1	0	TRIM36	114510922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.418000	0.82041	0.591000	0.81541	GAT		0.443	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		129	510	1	0	3.47496e-60	1	4.36768e-60	129	510					A	114483023	C	A	114483023	3	1	79	1	0	0	0	0	1	0	0	0	16563	855	30	3	1851	3	TRIM36	5	114483023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20577	114483023	66432237	6382	16699											
TRIM36	55521	broad.mit.edu	37	chr5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcccacatcgttgaatgaatCatcgagagtcagcaggagtt	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000282369.3	-	2	317	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.D54Y|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	66					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(160-162)Gat>Tat		tripartite motif containing 36							160	148	152					5																	114499317		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499317C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.196G>T	5.37:g.114499317C>A	ENSP00000282369:p.Asp66Tyr					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.D66Y	p.D54Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	486	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	66					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.160G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415762	0.83449	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55413	0.52;0.64;0.93	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.237750	0.42964	D	0.000625	T	0.74741	0.3756	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.77907	-0.2412	10	0.72032	D	0.01	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	54;66	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	66;54;54	ENSP00000282369:D66Y;ENSP00000423934:D54Y;ENSP00000424743:D54Y	ENSP00000282369:D66Y	D	-	1	0	TRIM36	114527216	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.348000	0.79366	2.468000	0.83385	0.655000	0.94253	GAT		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		85	373	1	0	2.13431e-38	1	2.57195e-38	85	373					A	114499317	C	A	114499317	3	1	79	1	0	0	0	0	1	0	0	0	16563	826	29	3	2026	3	TRIM36	5	114499317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16294	114499317	66415943	6383	16700											
TRIM36	55521	broad.mit.edu	37	chr5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcaattccatgatgtagCcaaattcactcatctcccca	3	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	11					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557																																						ENST00000282369.3																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(31-33)gGc>gAc		tripartite motif containing 36							117	119	118					5																	114515703		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114515703C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.32G>A	5.37:g.114515703C>T	ENSP00000282369:p.Gly11Asp					TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D	p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	1	153	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	11					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.32G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221520	0.58560	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.54071	0.59	4.38	4.38	0.52667	.	0.224065	0.38492	N	0.001662	T	0.61489	0.2351	L	0.41824	1.3	0.25265	N	0.989568	D;D;P	0.71674	0.998;0.998;0.536	D;D;B	0.72075	0.976;0.943;0.114	T	0.53358	-0.8450	10	0.42905	T	0.14	.	12.7819	0.57483	0.0:1.0:0.0:0.0	.	11;11;11	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	D	11	ENSP00000282369:G11D	ENSP00000282369:G11D	G	-	2	0	TRIM36	114543602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.136000	0.66102	0.563000	0.77884	GGC		0.557	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		113	571	0	0	0	1	0	113	571					T	114515703	C	T	114515703	3	4	79	1	0	0	0	0	1	0	0	0	16563	739	26	2	2445	2	TRIM36	5	114515703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16386	114515703	66399557	6384	16701											
CCDC112	153733	broad.mit.edu	37	chr5	114604698	114604698	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactaacattgttttcaacCtgtaatcagaagtaaaatag	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000512261.1	-	10	1596		c.e10-1		CCDC112_ENST00000506442.1_Splice_Site|CCDC112_ENST00000379611.5_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.e9-1		coiled-coil domain containing 112							134	130	132					5																	114604698		2202	4300	6502	SO:0001630	splice_region_variant	153733							g.chr5:114604698C>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1180-1G>T	5.37:g.114604698C>A						CCDC112_ENST00000512261.1_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site		NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	9	1716	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)						Q6A334	Splice_Site	SNP	ENST00000512261.1	37		CCDS4117.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.174790	0.78452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC112	114632597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.803000	0.96430	0.650000	0.86243	.		0.368	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	Intron	52	278	1	0	3.4597e-24	1	3.94879e-24	52	278					A	114604698	C	A	114604698	5	1	79	1	0	0	0	0	0	0	1	0	2756	695	24	3	169	3	CCDC112	5	114604698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88995	114604698	66310562	6385	16702											
CCDC112	153733	broad.mit.edu	37	chr5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccagtcttctttgtttTtgtgacttttcatcttcctt	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000512261.1	-	9	1562	c.1146A>C	c.(1144-1146)caA>caC	p.Q382H	CCDC112_ENST00000506442.1_Intron|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTCTTTGTTTTTGTGACTTTT	0.308																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1393-1395)caA>caC		coiled-coil domain containing 112							178	167	171					5																	114605433		2200	4295	6495	SO:0001583	missense	153733							g.chr5:114605433T>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1146A>C	5.37:g.114605433T>G	ENSP00000423712:p.Gln382His					CCDC112_ENST00000512261.1_Missense_Mutation_p.Q382H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron	p.Q465H	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	8	1682	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	382					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1395A>C	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705875	0.48412	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.18016	2.27;2.24;2.24	5.35	4.17	0.49024	.	0.314007	0.33180	N	0.005185	T	0.09598	0.0236	N	0.08118	0	0.25575	N	0.98685	B;B	0.20052	0.041;0.005	B;B	0.14023	0.01;0.003	T	0.22103	-1.0226	10	0.72032	D	0.01	-8.6957	11.5301	0.50604	0.1346:0.0:0.0:0.8654	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	H	465;382;382	ENSP00000368931:Q465H;ENSP00000423712:Q382H;ENSP00000378925:Q382H	ENSP00000368931:Q465H	Q	-	3	2	CCDC112	114633332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.247000	0.32815	0.938000	0.37419	0.528000	0.53228	CAA		0.308	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		13	60	0	0	0	1	0	13	60					G	114605433	T	G	114605433	3	3	79	1	0	0	0	0	1	0	0	0	2756	1838	64	4	206	4	CCDC112	5	114605433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735	114605433	66309827	6386	16703											
CCDC112	153733	broad.mit.edu	37	chr5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctacaggaactttgCttgagattgctctgaaagct	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000512261.1	-	7	817	c.401G>A	c.(400-402)aGc>aAc	p.S134N	CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	134										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(649-651)aGc>aAc		coiled-coil domain containing 112							138	139	139					5																	114611181		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114611181C>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.401G>A	5.37:g.114611181C>T	ENSP00000423712:p.Ser134Asn					CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Missense_Mutation_p.S134N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N	p.S217N	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	937	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	134					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.650G>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831347	0.50845	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24538	1.85;2.19;2.19;2.19	5.95	5.95	0.96441	.	0.516231	0.25114	N	0.033025	T	0.27559	0.0677	L	0.43152	1.355	0.29259	N	0.871457	P;P;P	0.38504	0.634;0.634;0.493	B;B;B	0.41894	0.369;0.369;0.206	T	0.10683	-1.0619	10	0.22109	T	0.4	-3.5344	15.6166	0.76773	0.0:0.8531:0.1469:0.0	.	134;217;134	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	217;134;134;134	ENSP00000368931:S217N;ENSP00000423712:S134N;ENSP00000424876:S134N;ENSP00000378925:S134N	ENSP00000368931:S217N	S	-	2	0	CCDC112	114639080	0.664000	0.27457	0.851000	0.33527	0.995000	0.86356	1.112000	0.31172	2.810000	0.96702	0.650000	0.86243	AGC		0.408	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		124	530	0	0	0	1	0	124	530					T	114611181	C	T	114611181	3	4	79	1	0	0	0	0	1	0	0	0	2756	797	28	2	959	2	CCDC112	5	114611181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5748	114611181	66304079	6387	16704											
CCDC112	153733	broad.mit.edu	37	chr5	114615393	114615393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaattcttctagcatActatgctcaattctgaagtc	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000512261.1	-	4	479	c.63T>C	c.(61-63)agT>agC	p.S21S	CCDC112_ENST00000506442.1_Silent_p.S21S|CCDC112_ENST00000379611.5_Silent_p.S104S|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Silent_p.S21S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(310-312)agT>agC		coiled-coil domain containing 112							127	114	118					5																	114615393		2202	4298	6500	SO:0001819	synonymous_variant	153733							g.chr5:114615393A>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.63T>C	5.37:g.114615393A>G						CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Silent_p.S21S|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S	p.S104S	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	3	599	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	21					Q6A334	Silent	SNP	ENST00000512261.1	37	c.312T>C	CCDS4117.1																																																																																				0.294	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		29	137	0	0	0	1	0	29	137					G	114615393	A	G	114615393	2	3	79	1	0	0	0	0	0	0	0	1	2756	388	14	4		4	CCDC112	5	114615393	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4212	114615393	66299867	6388	16705											
TMED7	51014	broad.mit.edu	37	chr5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcattgctgaagcaaAatttgtatgtcccatttttg	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000456936.3	-	2	703	c.323T>G	c.(322-324)tTt>tGt	p.F108C	AC010226.4_ENST00000515570.1_RNA|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000508517.1_RNA	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7	108	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|COPII vesicle coat (GO:0030127)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		GCTGAAGCAAAATTTGTATGT	0.353																																					Pancreas(167;237 2002 3207 14549 49356)	ENST00000456936.3																			0				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6						c.(322-324)tTt>tGt		transmembrane emp24 protein transport domain containing 7							126	128	127					5																	114956247		2202	4300	6502	SO:0001583	missense	51014							g.chr5:114956247A>C	AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970			24253	protein-coding gene	gene with protein product						10810093	Standard	NM_181836		Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000456936.3:c.323T>G	5.37:g.114956247A>C	ENSP00000405926:p.Phe108Cys					AC010226.4_ENST00000515570.1_RNA|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C	p.F108C	NM_181836.5	NP_861974.1				OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)	2	703	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						Q8NBU8|Q8WUU6|Q96K51	Missense_Mutation	SNP	ENST00000456936.3	37	c.323T>G	CCDS4120.1	.	.	.	.	.	.	.	.	.	.	a	24.8	4.571078	0.86542	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.92	5.92	0.95590	GOLD (3);	0.097816	0.64402	D	0.000001	T	0.75867	0.3908	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82096	-0.0626	10	0.72032	D	0.01	-15.079	15.3535	0.74409	1.0:0.0:0.0:0.0	.	108;108	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	C	108	ENSP00000386341:F108C;ENSP00000282382:F108C;ENSP00000333650:F108C;ENSP00000405926:F108C	ENSP00000405926:F108C	F	-	2	0	TMED7;TICAM2;TMED7-TICAM2	114984146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.267000	0.75376	0.477000	0.44152	TTT		0.353	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254990.4	NM_181836		82	366	0	0	0	1	0	82	366					C	114956247	A	C	114956247	3	2	79	1	0	0	0	0	1	0	0	0	16061	14	1	4	359	4	TMED7	5	114956247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340854	114956247	65959013	6389	16706											
AQPEP	206338	broad.mit.edu	37	chr5	115361774	115361774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctgaaaaacaagaagCtaagtgccaggatagctgcg	10	7	1	2	rs367801166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115361774C>T	ENST00000357872.4	+	20	3056	c.2932C>T	c.(2932-2934)Cta>Tta	p.L978L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		978						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAACAAGAAGCTAAGTGCCAG	0.403																																						ENST00000357872.4																			0											c.(2932-2934)Cta>Tta									91	81	85					5																	115361774		2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115361774C>T																												ENST00000357872.4:c.2932C>T	5.37:g.115361774C>T						CTD-2287O16.3_ENST00000600981.3_Intron	p.L978L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			20	3056	+			978					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.2932C>T	CCDS4124.1																																																																																				0.403	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			5	187	0	0	0	1	0	5	187					T	115361774	C	T	115361774	2	4	79	1	0	0	0	0	0	0	0	1	834	796	28	2		2	AQPEP	5	115361774	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405527	115361774	65553486	6390	16707											
SEMA6A	57556	broad.mit.edu	37	chr5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctgtccagctgcatgCccatgatccttttgtcttcg	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	489	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1465-1467)gGc>gAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							99	97	97					5																	115813812		2040	4200	6240	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813812C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1466G>A	5.37:g.115813812C>T	ENSP00000345512:p.Gly489Asp					SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.G489D	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2253	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	489			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.1466G>A	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380670|4.380670	0.82792|0.82792	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.98|5.98	5.98|5.98	0.97165|0.97165	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	.|0.048510	.|0.85682	.|D	.|0.000000	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.66939|0.66939	2.045|2.045	0.35680|0.35680	D|D	0.814023|0.814023	.|D;P;P;B	.|0.53312	.|0.959;0.698;0.949;0.378	.|P;B;P;B	.|0.58454	.|0.839;0.305;0.79;0.138	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.87932	.|D	.|0	.|.	16.595|16.595	0.84794|0.84794	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|489;33;489;21	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|D	59|489;489;21;489	.|ENSP00000345512:G489D;ENSP00000257414:G489D;ENSP00000282394:G21D;ENSP00000424388:G489D	.|ENSP00000257414:G489D	A|G	-|-	1|2	0|0	SEMA6A|SEMA6A	115841711|115841711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.891000|4.891000	0.63185|0.63185	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		63	245	0	0	0	1	0	63	245					T	115813812	C	T	115813812	3	4	79	1	0	0	0	0	1	0	0	0	14089	739	26	2	1650	2	SEMA6A	5	115813812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	452038	115813812	65101448	6391	16708											
SEMA6A	57556	broad.mit.edu	37	chr5	115814375	115814375	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgattctgatatggCccagcagctgtgtccactgc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G430G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	430	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1288-1290)ggG>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							79	76	77					5																	115814375		1897	4113	6010	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115814375C>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1290G>T	5.37:g.115814375C>A						SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.G430G	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	13	2077	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	430			Sema.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1290G>T	CCDS47256.1																																																																																				0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		23	127	1	0	2.98393e-07	1	3.0958e-07	23	127					A	115814375	C	A	115814375	2	1	79	1	0	0	0	0	0	0	0	1	14089	726	26	3		3	SEMA6A	5	115814375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	563	115814375	65100885	6392	16709											
SEMA6A	57556	broad.mit.edu	37	chr5	115832009	115832009	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagatttccatgtcagttTctgcagggatcaagaaagaa	9	7	4	3	rs548814059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	94	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0					ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e5-1		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							140	138	138					5																	115832009		1847	4078	5925	SO:0001630	splice_region_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115832009T>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.280-1A>G	5.37:g.115832009T>C						SEMA6A_ENST00000510263.1_Splice_Site_p.K94_splice|SEMA6A_ENST00000257414.8_Splice_Site_p.K94_splice|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA	p.K94_splice	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	5	1067	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	94			Sema.		Q9P2H9	Splice_Site	SNP	ENST00000343348.6	37	c.279_splice	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108165	0.77096	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29397	2.79;2.79;2.79;1.57;1.57	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.45698	1.435	0.80722	D	1	P;P	0.40266	0.71;0.662	P;B	0.47470	0.548;0.412	T	0.18650	-1.0330	10	0.72032	D	0.01	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	94;94	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	94	ENSP00000345512:K94E;ENSP00000257414:K94E;ENSP00000424388:K94E;ENSP00000421935:K94E;ENSP00000425553:K94E	ENSP00000257414:K94E	K	-	1	0	SEMA6A	115859908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAA		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	Missense_Mutation	87	340	0	0	0	1	0	87	340					C	115832009	T	C	115832009	5	2	79	1	0	0	0	0	0	0	1	0	14089	1797	62	4	2872	4	SEMA6A	5	115832009	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17634	115832009	65083251	6393	16710											
DMXL1	1657	broad.mit.edu	37	chr5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgacacaacaaaataaaaGcactgttgacgtggcatttc	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	689										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)		CAAAATAAAAGCACTGTTGAC	0.423																																						ENST00000311085.8																			0				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						c.(2065-2067)aGc>aTc		Dmx-like 1							120	117	118					5																	118469685		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118469685G>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.2066G>T	5.37:g.118469685G>T	ENSP00000309690:p.Ser689Ile					DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2146	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	689						Missense_Mutation	SNP	ENST00000311085.8	37	c.2066G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504230	0.12822	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.53	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);	0.491773	0.26075	N	0.026490	T	0.01592	0.0051	L	0.40543	1.245	0.25668	N	0.985924	B;B	0.27853	0.191;0.037	B;B	0.28709	0.093;0.043	T	0.46034	-0.9220	9	.	.	.	-0.7137	10.1344	0.42697	0.2742:0.0:0.7258:0.0	.	689;689	F5H269;Q9Y485	.;DMXL1_HUMAN	I	689	ENSP00000309690:S689I;ENSP00000439479:S689I	.	S	+	2	0	DMXL1	118497584	0.045000	0.20229	0.991000	0.47740	0.398000	0.30690	0.219000	0.17641	0.700000	0.31782	0.460000	0.39030	AGC		0.423	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		27	487	1	0	1.12875e-08	1	1.18168e-08	27	487					T	118469685	G	T	118469685	3	4	79	1	0	0	0	0	1	0	0	0	4610	971	34	3	2112	3	DMXL1	5	118469685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637676	118469685	62445575	6394	16711											
DMXL1	1657	broad.mit.edu	37	chr5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggagatgcagagtaacaGatggagaatctgccacgtca	12	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1006										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)		CAGAGTAACAGATGGAGAATC	0.383																																						ENST00000311085.8																			0				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						c.(3016-3018)Gat>Tat		Dmx-like 1							116	113	114					5																	118484538		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484538G>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.3016G>T	5.37:g.118484538G>T	ENSP00000309690:p.Asp1006Tyr					DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3096	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1006						Missense_Mutation	SNP	ENST00000311085.8	37	c.3016G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	4.261	0.047475	0.08243	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01422	4.91;4.91	5.5	-5.91	0.02269	.	2.186180	0.01385	N	0.013067	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48906	-0.8993	10	0.66056	D	0.02	1.9386	3.4989	0.07665	0.3765:0.3392:0.1976:0.0868	.	1006;1006	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1006	ENSP00000309690:D1006Y;ENSP00000439479:D1006Y	ENSP00000309690:D1006Y	D	+	1	0	DMXL1	118512437	0.000000	0.05858	0.004000	0.12327	0.675000	0.39556	-0.644000	0.05415	-0.804000	0.04410	-0.878000	0.02970	GAT		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		103	452	1	0	1.42366e-38	1	1.7169e-38	103	452					T	118484538	G	T	118484538	3	4	79	1	0	0	0	0	1	0	0	0	4610	942	33	3	3086	3	DMXL1	5	118484538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14853	118484538	62430722	6395	16712											
DMXL1	1657	broad.mit.edu	37	chr5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctagtaatgagagtaCgttaagtaaatcaaaccaat	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1431								p.T1431M(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)		AATGAGAGTACGTTAAGTAAA	0.338																																						ENST00000311085.8																			1	Substitution - Missense(1)	p.T1431M(1)	large_intestine(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						c.(4291-4293)aCg>aTg		Dmx-like 1							79	79	79					5																	118485814		2202	4299	6501	SO:0001583	missense	1657							g.chr5:118485814C>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.4292C>T	5.37:g.118485814C>T	ENSP00000309690:p.Thr1431Met					DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4372	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1431						Missense_Mutation	SNP	ENST00000311085.8	37	c.4292C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959535	0.18507	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10192	2.9;2.9	5.43	2.49	0.30216	.	0.861240	0.10758	N	0.637577	T	0.10423	0.0255	L	0.43152	1.355	0.09310	N	1	P;P	0.50272	0.917;0.933	B;P	0.44897	0.333;0.463	T	0.22906	-1.0203	10	0.34782	T	0.22	-0.933	4.1577	0.10268	0.2541:0.447:0.223:0.076	.	1431;1431	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1431	ENSP00000309690:T1431M;ENSP00000439479:T1431M	ENSP00000309690:T1431M	T	+	2	0	DMXL1	118513713	0.001000	0.12720	0.958000	0.39756	0.802000	0.45316	0.504000	0.22626	0.760000	0.33108	0.563000	0.77884	ACG		0.338	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		92	334	0	0	0	1	0	92	334					T	118485814	C	T	118485814	3	4	79	1	0	0	0	0	1	0	0	0	4610	536	19	1	4362	1	DMXL1	5	118485814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1276	118485814	62429446	6396	16713											
HSD17B4	3295	broad.mit.edu	37	chr5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttggattttctgccaggCgtgtgttacagcagtttgca	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000256216.6	+	19	1760	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	543	Enoyl-CoA hydratase 2.|MaoC-like.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTCTGCCAGGCGTGTGTTACA	0.343																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1702-1704)Cgt>Tgt		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						178	171	173					5																	118861665		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118861665C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1627C>T	5.37:g.118861665C>T	ENSP00000256216:p.Arg543Cys					HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R543C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C	p.R568C	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	20	1886	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	543			Enoyl-CoA hydratase 2.|MaoC-like.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1702C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.21	5.21	0.72293	MaoC-like dehydratase (1);	0.140082	0.64402	D	0.000005	T	0.79167	0.4400	N	0.10916	0.065	0.48696	D	0.999692	D;D;D;D;D	0.76494	0.999;0.959;0.994;0.994;0.977	P;P;B;P;B	0.60012	0.825;0.796;0.294;0.867;0.294	D	0.83981	0.0332	10	0.72032	D	0.01	-13.1573	17.5177	0.87779	0.0:1.0:0.0:0.0	.	568;525;519;281;543	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	543;525;519;568;403;406;281	ENSP00000256216:R543C;ENSP00000424613:R525C;ENSP00000424940:R519C;ENSP00000420914:R568C;ENSP00000411960:R403C;ENSP00000425993:R406C;ENSP00000426272:R281C	ENSP00000256216:R543C	R	+	1	0	HSD17B4	118889564	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.714000	0.61902	2.433000	0.82419	0.591000	0.81541	CGT		0.343	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		81	448	0	0	0	1	0	81	448					T	118861665	C	T	118861665	3	4	79	1	0	0	0	0	1	0	0	0	7416	768	27	1	1701	1	HSD17B4	5	118861665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375851	118861665	62053595	6397	16714											
HSD17B4	3295	broad.mit.edu	37	chr5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatattgggcctgaggTggtgaagaaagtaaatgctg	15	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000256216.6	+	22	2058	c.1925T>C	c.(1924-1926)gTg>gCg	p.V642A	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	642	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGGCCTGAGGTGGTGAAGAAA	0.393																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1999-2001)gTg>gCg		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						100	99	99					5																	118867031		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118867031T>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1925T>C	5.37:g.118867031T>C	ENSP00000256216:p.Val642Ala					HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V642A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A	p.V667A	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	23	2184	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	642			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.2000T>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584128	0.46110	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.49	4.3	0.51218	SCP2 sterol-binding domain (2);	0.123302	0.56097	D	0.000036	T	0.11495	0.0280	N	0.13352	0.335	0.39528	D	0.96862	P;B;B;B;B	0.42692	0.787;0.006;0.01;0.083;0.002	B;B;B;B;B	0.36567	0.228;0.02;0.02;0.06;0.026	T	0.12682	-1.0538	10	0.36615	T	0.2	-2.1711	10.8144	0.46567	0.142:0.0:0.0:0.858	.	667;624;618;380;642	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	642;624;618;667;502;505;380	ENSP00000256216:V642A;ENSP00000424613:V624A;ENSP00000424940:V618A;ENSP00000420914:V667A;ENSP00000411960:V502A;ENSP00000425993:V505A;ENSP00000426272:V380A	ENSP00000256216:V642A	V	+	2	0	HSD17B4	118894930	1.000000	0.71417	0.632000	0.29296	0.966000	0.64601	5.241000	0.65384	0.877000	0.35895	0.528000	0.53228	GTG		0.393	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		42	385	0	0	0	1	0	42	385					C	118867031	T	C	118867031	3	2	79	1	0	0	0	0	1	0	0	0	7416	1696	59	4	2011	4	HSD17B4	5	118867031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5366	118867031	62048229	6398	16715											
HSD17B4	3295	broad.mit.edu	37	chr5	118872225	118872225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatggaggtggtcctgGgcaagcttgaccctcagaag	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118872225G>A	ENST00000256216.6	+	23	2234	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.G726S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G683S	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	701	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTGGTCCTGGGCAAGCTTGA	0.403																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(2176-2178)Ggc>Agc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						123	113	116					5																	118872225		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118872225G>A		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.2101G>A	5.37:g.118872225G>A	ENSP00000256216:p.Gly701Ser					HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G701S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G683S	p.G726S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	24	2360	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	701			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.2176G>A	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243030	0.95272	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.85	5.85	0.93711	SCP2 sterol-binding domain (2);	0.147360	0.64402	D	0.000010	D	0.85071	0.5613	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.988	D;D;D;D;P	0.79108	0.975;0.976;0.983;0.992;0.904	D	0.88067	0.2798	9	.	.	.	-13.2708	18.9291	0.92558	0.0:0.0:1.0:0.0	.	726;683;677;439;701	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	S	701;683;677;726;561;564;439	ENSP00000256216:G701S;ENSP00000424613:G683S;ENSP00000424940:G677S;ENSP00000420914:G726S;ENSP00000411960:G561S;ENSP00000425993:G564S;ENSP00000426272:G439S	.	G	+	1	0	HSD17B4	118900124	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	6.824000	0.75288	2.773000	0.95371	0.650000	0.86243	GGC		0.403	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		7	369	0	0	0	1	0	7	369					A	118872225	G	A	118872225	3	1	79	1	0	0	0	0	1	0	0	0	7416	1232	43	2	2191	2	HSD17B4	5	118872225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5194	118872225	62043035	6399	16716											
PRR16	51334	broad.mit.edu	37	chr5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaatgaaaaagtacagtaCcatggctattgtcctgactg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000407149.2	+	2	848	c.639C>A	c.(637-639)taC>taA	p.Y213*	PRR16_ENST00000379551.2_Nonsense_Mutation_p.Y190*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*			Q569H4	LARGN_HUMAN	proline rich 16	213	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAGTACAGTACCATGGCTATT	0.488																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(568-570)taC>taA		proline rich 16							76	77	77					5																	120022128		2203	4300	6503	SO:0001587	stop_gained	51334							g.chr5:120022128C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.639C>A	5.37:g.120022128C>A	ENSP00000385118:p.Tyr213*					PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000407149.2_Nonsense_Mutation_p.Y213*	p.Y190*	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	927	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	213			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Nonsense_Mutation	SNP	ENST00000407149.2	37	c.570C>A		.	.	.	.	.	.	.	.	.	.	C	18.90	3.721352	0.68959	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7253	9.7476	0.40457	0.0:0.8394:0.0:0.1606	.	.	.	.	X	213;190;143;143	.	.	Y	+	3	2	PRR16	120050027	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.310000	0.45006	-0.143000	0.13931	TAC		0.488	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		40	210	1	0	6.33695e-27	1	7.31871e-27	40	210					A	120022128	C	A	120022128	4	1	79	1	0	0	0	0	0	1	0	0	12636	518	18	3	576	3	PRR16	5	120022128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1149903	120022128	60893132	6400	16717											
FTMT	94033	broad.mit.edu	37	chr5	121187676	121187676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgctgtcctgcttcagGctcctctccaggcacatcag	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	6					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(16-18)agG>agA		ferritin mitochondrial							29	33	32					5																	121187676		2201	4296	6497	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187676G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.18G>A	5.37:g.121187676G>A							p.R6R	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	27	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	6						Silent	SNP	ENST00000321339.1	37	c.18G>A	CCDS4128.1																																																																																				0.697	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		85	376	0	0	0	1	0	85	376					A	121187676	G	A	121187676	2	1	79	1	0	0	0	0	0	0	0	1	6112	1194	42	2		2	FTMT	5	121187676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165548	121187676	59727584	6401	16718											
FTMT	94033	broad.mit.edu	37	chr5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgccccctggccgcaGccgcctcctcccgggaccct	10	25	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(154-156)Gcc>Acc		ferritin mitochondrial							6	8	7					5																	121187812		2082	4087	6169	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187812G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.154G>A	5.37:g.121187812G>A	ENSP00000313691:p.Ala52Thr						p.A52T	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	163	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	52						Missense_Mutation	SNP	ENST00000321339.1	37	c.154G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599650	0.28534	.	.	ENSG00000181867	ENST00000321339	T	0.63744	-0.06	3.21	1.22	0.21188	.	.	.	.	.	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18555	-1.0333	9	0.11485	T	0.65	.	1.9809	0.03426	0.1191:0.1819:0.4801:0.2189	.	52	Q8N4E7	FTMT_HUMAN	T	52	ENSP00000313691:A52T	ENSP00000313691:A52T	A	+	1	0	FTMT	121215711	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.002000	0.13061	0.295000	0.22570	0.460000	0.39030	GCC		0.766	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		24	117	0	0	0	1	0	24	117					A	121187812	G	A	121187812	3	1	79	1	0	0	0	0	1	0	0	0	6112	971	34	2	156	2	FTMT	5	121187812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	121187812	59727448	6402	16719											
FTMT	94033	broad.mit.edu	37	chr5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacatcaagaagccggaaCaggacgactgggaaagcggg	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(448-450)Cag>Tag		ferritin mitochondrial							87	87	87					5																	121188106		2203	4300	6503	SO:0001587	stop_gained	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188106C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.448C>T	5.37:g.121188106C>T	ENSP00000313691:p.Gln150*						p.Q150*	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	457	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	150			Ferritin-like diiron.			Nonsense_Mutation	SNP	ENST00000321339.1	37	c.448C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352415	0.61293	.	.	ENSG00000181867	ENST00000321339	.	.	.	3.6	0.63	0.17693	.	0.436377	0.21093	N	0.080300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.77	0.18247	0.3134:0.5831:0.0:0.1035	.	.	.	.	X	150	.	ENSP00000313691:Q150X	Q	+	1	0	FTMT	121216005	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	0.807000	0.27140	0.104000	0.17725	0.655000	0.94253	CAG		0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		66	460	0	0	0	1	0	66	460					T	121188106	C	T	121188106	4	4	79	1	0	0	0	0	0	1	0	0	6112	479	17	2	450	2	FTMT	5	121188106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	121188106	59727154	6403	16720											
SRFBP1	153443	broad.mit.edu	37	chr5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggaagcaagcagaaggCgaaaagaacagcaatctaat	11	7	1	2	rs562977263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.R410*(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)		AAGCAGAAGGCGAAAAGAACA	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		15628	0.001		0.0	False		,,,				2504	0.0					ENST00000339397.4																			1	Substitution - Nonsense(1)	p.R410*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(1228-1230)Cga>Tga		serum response factor binding protein 1							47	45	46					5																	121362759		1835	4090	5925	SO:0001587	stop_gained	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121362759C>T	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.1228C>T	5.37:g.121362759C>T	ENSP00000341324:p.Arg410*					SRFBP1_ENST00000504881.1_Intron	p.R410*	NM_152546.2	NP_689759.2	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)	8	1300	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	410						Nonsense_Mutation	SNP	ENST00000339397.4	37	c.1228C>T	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	.	0.060687	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7732	10.9237	0.47180	0.1307:0.8022:0.0:0.0671	.	.	.	.	X	410	.	ENSP00000341324:R410X	R	+	1	2	SRFBP1	121390658	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	3.375000	0.52410	0.785000	0.33685	0.655000	0.94253	CGA		0.363	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		39	152	0	0	0	1	0	39	152					T	121362759	C	T	121362759	4	4	79	1	0	0	0	0	0	1	0	0	15196	760	27	1	1258	1	SRFBP1	5	121362759	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174653	121362759	59552501	6404	16721											
ZNF474	133923	broad.mit.edu	37	chr5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatggaaaatgaccggCtccctgtggagctccaccag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	254							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAATGACCGGCTCCCTGTGGA	0.522																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(760-762)Ctc>Ttc		zinc finger protein 474							62	65	64					5																	121488445		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488445C>T	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.760C>T	5.37:g.121488445C>T	ENSP00000296600:p.Leu254Phe					ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.L254F	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1143	+		all_cancers(142;0.229)|Prostate(80;0.0387)	254					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.760C>T	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002121	0.35320	.	.	ENSG00000164185	ENST00000296600	T	0.54866	0.55	5.43	5.43	0.79202	.	0.000000	0.38959	U	0.001513	T	0.67683	0.2919	M	0.81497	2.545	0.34481	D	0.703864	D	0.89917	1.0	D	0.75484	0.986	T	0.71820	-0.4477	10	0.15952	T	0.53	-14.7049	8.4188	0.32687	0.0:0.8336:0.0:0.1664	.	254	Q6S9Z5	ZN474_HUMAN	F	254	ENSP00000296600:L254F	ENSP00000296600:L254F	L	+	1	0	ZNF474	121516344	0.950000	0.32346	0.781000	0.31783	0.066000	0.16364	1.862000	0.39448	2.544000	0.85801	0.655000	0.94253	CTC		0.522	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		59	298	0	0	0	1	0	59	298					T	121488445	C	T	121488445	3	4	79	1	0	0	0	0	1	0	0	0	17985	797	28	2	762	2	ZNF474	5	121488445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125686	121488445	59426815	6405	16722											
SNCAIP	9627	broad.mit.edu	37	chr5	121785597	121785597	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caacaatttctagaagcccaGaaatcagagggcaagtcact	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261368.8	+	9	1912	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000261367.7_Silent_p.Q597Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	550					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAGAAGCCCAGAAATCAGAGG	0.428																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1789-1791)caG>caA		synuclein, alpha interacting protein							158	157	157					5																	121785597		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121785597G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1650G>A	5.37:g.121785597G>A						CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.Q550Q|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.Q597Q			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	11	3219	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	550					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1791G>A	CCDS4131.1																																																																																				0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			130	519	0	0	0	1	0	130	519					A	121785597	G	A	121785597	2	1	79	1	0	0	0	0	0	0	0	1	14891	933	33	2		2	SNCAIP	5	121785597	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297152	121785597	59129663	6406	16723											
SNCAIP	9627	broad.mit.edu	37	chr5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcagggggacgcaggtTtcctttcagcatcaaggcct	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261368.8	+	10	2460	c.2198T>G	c.(2197-2199)tTt>tGt	p.F733C	SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000261367.7_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	733					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGACGCAGGTTTCCTTTCAGC	0.542																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2338-2340)tTt>tGt		synuclein, alpha interacting protein							91	93	92					5																	121786740		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786740T>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2198T>G	5.37:g.121786740T>G	ENSP00000261368:p.Phe733Cys					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.F733C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.F780C			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3767	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	733					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2339T>G	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327484|2.327484	0.41197|0.41197	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317|ENST00000447854	T;T;T;T;T;T;T;T|.	0.15603|.	4.27;4.81;2.47;2.41;4.8;4.74;2.41;4.48|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.052577|0.052577	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76751|0.76751	0.4031|0.4031	M|M	0.75777|0.75777	2.31|2.31	0.44587|0.44587	D|D	0.99755|0.99755	D;D;B;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.056;1.0;1.0;1.0;0.999;0.999|.	D;D;B;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.117;0.964;0.998;0.964;0.994;0.921|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|7	0.87932|0.72032	D|D	0|0.01	-23.2289|-23.2289	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	673;361;335;673;367;367;780;733|.	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5|.	.;.;.;.;.;.;.;SNCAP_HUMAN|.	C|V	291;673;733;780;673;367;780;335|356	ENSP00000441681:F291C;ENSP00000422106:F673C;ENSP00000261368:F733C;ENSP00000368848:F780C;ENSP00000368851:F673C;ENSP00000368854:F367C;ENSP00000261367:F780C;ENSP00000394392:F335C|.	ENSP00000261367:F780C|ENSP00000416985:F356V	F|F	+|+	2|1	0|0	SNCAIP|SNCAIP	121814639|121814639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.291000|0.291000	0.27294|0.27294	4.731000|4.731000	0.62022|0.62022	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.542	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			54	222	0	0	0	1	0	54	222					G	121786740	T	G	121786740	3	3	79	1	0	0	0	0	1	0	0	0	14891	1841	64	4	2232	4	SNCAIP	5	121786740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1143	121786740	59128520	6407	16724											
SNCAIP	9627	broad.mit.edu	37	chr5	121786784	121786784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccctggatggccacagcCcatctcccacctcagagagc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786784C>A	ENST00000261368.8	+	10	2504	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P795T|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	748					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGCCACAGCCCATCTCCCAC	0.552																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2383-2385)Cca>Aca		synuclein, alpha interacting protein							84	88	87					5																	121786784		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786784C>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2242C>A	5.37:g.121786784C>A	ENSP00000261368:p.Pro748Thr					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P748T|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.P795T			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3811	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	748					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2383C>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637997	0.67130	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.17854	4.11;4.62;2.26;2.25;4.62;4.56;2.25;4.32	6.06	6.06	0.98353	.	0.227341	0.46758	D	0.000262	T	0.47801	0.1465	M	0.77313	2.365	0.54753	D	0.99998	D;D;D;D;D;D;D;D	0.89917	0.999;0.993;0.985;0.986;0.998;0.986;1.0;0.976	D;D;P;P;D;P;D;P	0.83275	0.989;0.949;0.901;0.791;0.986;0.843;0.996;0.7	T	0.39623	-0.9605	10	0.87932	D	0	-18.3831	20.6208	0.99490	0.0:1.0:0.0:0.0	.	688;376;350;688;382;382;795;748	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	T	306;688;748;795;688;382;795;350	ENSP00000441681:P306T;ENSP00000422106:P688T;ENSP00000261368:P748T;ENSP00000368848:P795T;ENSP00000368851:P688T;ENSP00000368854:P382T;ENSP00000261367:P795T;ENSP00000394392:P350T	ENSP00000261367:P795T	P	+	1	0	SNCAIP	121814683	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.308000	0.43690	2.882000	0.98803	0.655000	0.94253	CCA		0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			50	221	1	0	1.15181e-12	1	1.23883e-12	50	221					A	121786784	C	A	121786784	3	1	79	1	0	0	0	0	1	0	0	0	14891	623	22	3	2276	3	SNCAIP	5	121786784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	121786784	59128476	6408	16725											
SNCAIP	9627	broad.mit.edu	37	chr5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccctctggtgaccctcaGcagcccagccctgacagtac	9	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261368.8	+	10	2599	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	779					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGACCCTCAGCAGCCCAGCC	0.547																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2476-2478)caG>caT		synuclein, alpha interacting protein							56	60	59					5																	121786879		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786879G>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2337G>T	5.37:g.121786879G>T	ENSP00000261368:p.Gln779His					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q779H|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.Q826H			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3906	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	779					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2478G>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228979	0.01518	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.12672	4.47;4.99;2.7;2.66;4.99;4.98;2.66;4.69	5.87	-5.2	0.02823	.	0.665589	0.15287	N	0.270390	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.32507	0.0;0.0;0.001;0.164;0.003;0.164;0.373;0.161	B;B;B;B;B;B;B;B	0.30401	0.0;0.0;0.0;0.115;0.001;0.115;0.09;0.033	T	0.37267	-0.9713	10	0.21014	T	0.42	-0.3089	0.1661	0.00108	0.3158:0.1818:0.2432:0.2593	.	719;407;381;719;413;413;826;779	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	H	337;719;779;826;719;413;826;381	ENSP00000441681:Q337H;ENSP00000422106:Q719H;ENSP00000261368:Q779H;ENSP00000368848:Q826H;ENSP00000368851:Q719H;ENSP00000368854:Q413H;ENSP00000261367:Q826H;ENSP00000394392:Q381H	ENSP00000261367:Q826H	Q	+	3	2	SNCAIP	121814778	0.038000	0.19896	0.224000	0.23877	0.003000	0.03518	-0.023000	0.12456	-0.369000	0.08028	-1.551000	0.00897	CAG		0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			52	199	1	0	1.21353e-23	1	1.38083e-23	52	199					T	121786879	G	T	121786879	3	4	79	1	0	0	0	0	1	0	0	0	14891	962	34	3	2371	3	SNCAIP	5	121786879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	121786879	59128381	6409	16726											
SNX2	6643	broad.mit.edu	37	chr5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcattcaattccagctgCctagagcagttaatacacag	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000379516.2	+	9	910	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	268	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATTCCAGCTGCCTAGAGCAGT	0.488																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(802-804)Cct>Tct		sorting nexin 2							48	47	47					5																	122152613		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122152613C>T	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.802C>T	5.37:g.122152613C>T	ENSP00000368831:p.Pro268Ser					SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	p.P268S	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	9	910	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	268			PX.		B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.802C>T	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532860	0.85812	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.22945	2.0;1.93	5.93	5.93	0.95920	Phox homologous domain (2);	0.102077	0.64402	D	0.000001	T	0.56016	0.1957	M	0.90252	3.1	0.80722	D	1	P	0.51537	0.946	P	0.55260	0.772	T	0.63761	-0.6564	10	0.87932	D	0	-8.4387	20.3334	0.98727	0.0:1.0:0.0:0.0	.	268	O60749	SNX2_HUMAN	S	268;151	ENSP00000368831:P268S;ENSP00000421663:P151S	ENSP00000368831:P268S	P	+	1	0	SNX2	122180512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.818000	0.97014	0.591000	0.81541	CCT		0.488	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		7	115	0	0	0	1	0	7	115					T	122152613	C	T	122152613	3	4	79	1	0	0	0	0	1	0	0	0	14941	739	26	2	836	2	SNX2	5	122152613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365734	122152613	58762647	6410	16727											
SNX24	28966	broad.mit.edu	37	chr5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgctgctgttcctcaGggatccatatgtcttgcctg	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	138					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTGTTCCTCAGGGATCCATAT	0.483																																						ENST00000261369.4																			0				lung(5)	5						c.(412-414)aGg>aTg		sorting nexin 24							174	151	159					5																	122337670		2203	4300	6503	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337670G>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.413G>T	5.37:g.122337670G>T	ENSP00000261369:p.Arg138Met					SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	p.R138M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	6	598	+		Prostate(80;0.0387)	138					Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.413G>T	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878300	0.72294	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.64803	-0.08;-0.12;-0.12	5.86	5.86	0.93980	.	0.038056	0.85682	D	0.000000	T	0.73125	0.3547	L	0.39397	1.21	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;D	0.66847	0.839;0.947	T	0.69654	-0.5087	10	0.42905	T	0.14	-16.5217	20.5632	0.99335	0.0:0.0:1.0:0.0	.	138;138	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	M	138;138;171;138	ENSP00000261369:R138M;ENSP00000424149:R138M;ENSP00000422535:R138M	ENSP00000261369:R138M	R	+	2	0	SNX24	122365569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.937000	0.99478	0.650000	0.86243	AGG		0.483	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		25	601	1	0	1.77063e-15	1	1.9355e-15	25	601					T	122337670	G	T	122337670	3	4	79	1	0	0	0	0	1	0	0	0	14945	1000	35	3	435	3	SNX24	5	122337670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185057	122337670	58577590	6411	16728											
PPIC	5480	broad.mit.edu	37	chr5	122361664	122361664	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccatagatgctcacacCtgagacaaaacaaggaagaa	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)						protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.e4-1		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						65	53	57					5																	122361664		2203	4300	6503	SO:0001630	splice_region_variant	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361664C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.326-1G>T	5.37:g.122361664C>A								NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	441	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)						A4LBB5	Splice_Site	SNP	ENST00000306442.4	37		CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436279	0.96168	.	.	ENSG00000168938	ENST00000306442	.	.	.	6.02	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.403	0.74855	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PPIC	122389563	1.000000	0.71417	0.408000	0.26446	0.990000	0.78478	7.449000	0.80643	1.565000	0.49641	0.655000	0.94253	.		0.453	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943	Intron	20	117	1	0	1.2644e-06	1	1.30616e-06	20	117					A	122361664	C	A	122361664	5	1	79	1	0	0	0	0	0	0	1	0	12367	695	24	3	321	3	PPIC	5	122361664	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23994	122361664	58553596	6412	16729											
CEP120	153241	broad.mit.edu	37	chr5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctctttggccctacGgatagagtcctgcagttctt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000328236.5_Missense_Mutation_p.R756C|CEP120_ENST00000306481.6_Missense_Mutation_p.R730C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	756					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCCCTACGGATAGAGTCC	0.428																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2266-2268)Cgt>Tgt		centrosomal protein 120kDa							203	184	191					5																	122713160		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122713160G>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2266C>T	5.37:g.122713160G>A	ENSP00000303058:p.Arg756Cys					CEP120_ENST00000306481.6_Missense_Mutation_p.R730C|CEP120_ENST00000328236.5_Missense_Mutation_p.R756C	p.R756C			Q8N960	CE120_HUMAN			16	2570	-			756					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2266C>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392292	0.62066	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.76162	-0.3060	10	0.87932	D	0	-14.5195	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	756	Q8N960	CE120_HUMAN	C	756;756;730;730	ENSP00000303058:R756C;ENSP00000327504:R756C;ENSP00000307419:R730C;ENSP00000421620:R730C	ENSP00000303058:R756C	R	-	1	0	CEP120	122741059	1.000000	0.71417	0.872000	0.34217	0.718000	0.41266	4.425000	0.59875	2.767000	0.95098	0.655000	0.94253	CGT		0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		129	541	0	0	0	1	0	129	541					A	122713160	G	A	122713160	3	1	79	1	0	0	0	0	1	0	0	0	3255	1116	39	1	714	1	CEP120	5	122713160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	351496	122713160	58202100	6413	16730											
CEP120	153241	broad.mit.edu	37	chr5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtaagaaagatctgCtatcctgttatttgatctac	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000328236.5_Missense_Mutation_p.A594T|CEP120_ENST00000306481.6_Missense_Mutation_p.A568T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	594					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAGATCTGCTATCCTGTTA	0.279																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1780-1782)Gca>Aca		centrosomal protein 120kDa							39	39	39					5																	122718760		2196	4292	6488	SO:0001583	missense	153241					centrosome		g.chr5:122718760C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1780G>A	5.37:g.122718760C>T	ENSP00000303058:p.Ala594Thr					CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T	p.A594T			Q8N960	CE120_HUMAN			12	2084	-			594					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1780G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099312	0.56183	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	3.03	0.35002	.	0.473474	0.22445	N	0.059966	T	0.46483	0.1395	M	0.66939	2.045	0.80722	D	1	B	0.32893	0.389	B	0.34824	0.19	T	0.39921	-0.9590	10	0.56958	D	0.05	-7.3561	10.6681	0.45743	0.1186:0.8029:0.0:0.0785	.	594	Q8N960	CE120_HUMAN	T	594;594;568;568	ENSP00000303058:A594T;ENSP00000327504:A594T;ENSP00000307419:A568T;ENSP00000421620:A568T	ENSP00000303058:A594T	A	-	1	0	CEP120	122746659	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.883000	0.28200	0.292000	0.22492	0.650000	0.86243	GCA		0.279	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		22	103	0	0	0	1	0	22	103					T	122718760	C	T	122718760	3	4	79	1	0	0	0	0	1	0	0	0	3255	797	28	2	1216	2	CEP120	5	122718760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	122718760	58196500	6414	16731											
CEP120	153241	broad.mit.edu	37	chr5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggattctcgcaattcCcagaagtaaatctttactca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000328236.5_Missense_Mutation_p.G547R|CEP120_ENST00000306481.6_Missense_Mutation_p.G521R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	547					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCGCAATTCCCAGAAGTAAA	0.373																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1639-1641)Gga>Aga		centrosomal protein 120kDa							119	118	118					5																	122720769		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122720769C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1639G>A	5.37:g.122720769C>T	ENSP00000303058:p.Gly547Arg					CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R	p.G547R			Q8N960	CE120_HUMAN			11	1943	-			547					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1639G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047955	0.93740	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.62	5.62	0.85841	.	0.057822	0.64402	D	0.000002	D	0.88566	0.6471	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89155	0.3526	10	0.87932	D	0	-24.5401	19.6568	0.95845	0.0:1.0:0.0:0.0	.	547	Q8N960	CE120_HUMAN	R	547;547;521;521	ENSP00000303058:G547R;ENSP00000327504:G547R;ENSP00000307419:G521R;ENSP00000421620:G521R	ENSP00000303058:G547R	G	-	1	0	CEP120	122748668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.656000	0.90262	0.650000	0.86243	GGA		0.373	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		68	247	0	0	0	1	0	68	247					T	122720769	C	T	122720769	3	4	79	1	0	0	0	0	1	0	0	0	3255	632	22	2	1361	2	CEP120	5	122720769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2009	122720769	58194491	6415	16732											
CEP120	153241	broad.mit.edu	37	chr5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgctatggtcactgAcataataaaggagtcagtac	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000328236.5_Missense_Mutation_p.S193A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000306481.6_Missense_Mutation_p.S167A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	193					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTCACTGACATAATAAAG	0.428																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(577-579)Tca>Gca		centrosomal protein 120kDa							94	94	94					5																	122734865		2032	4192	6224	SO:0001583	missense	153241					centrosome		g.chr5:122734865A>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.577T>G	5.37:g.122734865A>C	ENSP00000303058:p.Ser193Ala					CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A	p.S193A			Q8N960	CE120_HUMAN			5	881	-			193					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.577T>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361882	0.61403	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.52983	1.96;1.96;1.96;0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66337	-0.5949	10	0.40728	T	0.16	-15.2477	16.0663	0.80878	1.0:0.0:0.0:0.0	.	193	Q8N960	CE120_HUMAN	A	193;193;167;167;193	ENSP00000303058:S193A;ENSP00000327504:S193A;ENSP00000307419:S167A;ENSP00000421620:S167A	ENSP00000303058:S193A	S	-	1	0	CEP120	122762764	1.000000	0.71417	0.847000	0.33407	0.085000	0.17905	9.310000	0.96267	2.201000	0.70794	0.533000	0.62120	TCA		0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		55	311	0	0	0	1	0	55	311					C	122734865	A	C	122734865	3	2	79	1	0	0	0	0	1	0	0	0	3255	275	10	4	2447	4	CEP120	5	122734865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14096	122734865	58180395	6416	16733											
CEP120	153241	broad.mit.edu	37	chr5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggagtttgataggagtaCgctgtagcctataacaaaac	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000328236.5_Missense_Mutation_p.R72H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000306481.6_Missense_Mutation_p.R46H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	72					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GATAGGAGTACGCTGTAGCCT	0.338																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(214-216)cGt>cAt		centrosomal protein 120kDa							81	72	75					5																	122751810		1839	4088	5927	SO:0001583	missense	153241					centrosome		g.chr5:122751810C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.215G>A	5.37:g.122751810C>T	ENSP00000303058:p.Arg72His					CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000328236.5_Missense_Mutation_p.R72H	p.R72H			Q8N960	CE120_HUMAN			3	519	-			72					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.215G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603365	0.87157	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56776	1.76;1.76;1.76;0.44	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.38643	T	0.18	-13.5642	18.3703	0.90405	0.0:1.0:0.0:0.0	.	72	Q8N960	CE120_HUMAN	H	72;72;46;46;72	ENSP00000303058:R72H;ENSP00000327504:R72H;ENSP00000307419:R46H;ENSP00000421620:R46H	ENSP00000303058:R72H	R	-	2	0	CEP120	122779709	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.807000	0.75201	2.700000	0.92200	0.655000	0.94253	CGT		0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		23	126	0	0	0	1	0	23	126					T	122751810	C	T	122751810	3	4	79	1	0	0	0	0	1	0	0	0	3255	536	19	1	2817	1	CEP120	5	122751810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16945	122751810	58163450	6417	16734											
ZNF608	57507	broad.mit.edu	37	chr5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtccgctggcattgagGctgccccgcctccctttccc	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	473							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGCATTGAGGCTGCCCCGCC	0.592																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1417-1419)agC>agA		zinc finger protein 608							75	77	76					5																	123984658		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984658G>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1419C>A	5.37:g.123984658G>T	ENSP00000307746:p.Ser473Arg					ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	p.S473R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1854	-		all_cancers(142;0.186)|Prostate(80;0.081)	473					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1419C>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158379	0.78114	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.53640	0.64;0.61	5.26	4.36	0.52297	.	0.092629	0.85682	D	0.000000	T	0.45074	0.1324	L	0.45137	1.4	0.44036	D	0.996768	P	0.44429	0.835	B	0.44224	0.444	T	0.47086	-0.9144	10	0.72032	D	0.01	-19.4122	12.8537	0.57873	0.0817:0.0:0.9183:0.0	.	473	Q9ULD9	ZN608_HUMAN	R	46;473;473;473	ENSP00000427657:S46R;ENSP00000307746:S473R	ENSP00000307746:S473R	S	-	3	2	ZNF608	124012557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	1.161000	0.42604	0.544000	0.68410	AGC		0.592	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		104	482	1	0	9.81067e-33	1	1.16009e-32	104	482					T	123984658	G	T	123984658	3	4	79	1	0	0	0	0	1	0	0	0	18087	1194	42	3	3143	3	ZNF608	5	123984658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1232848	123984658	56930602	6418	16735											
ALDH7A1	501	broad.mit.edu	37	chr5	125889982	125889982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagcatcccttaccttGcccccatagaccactgtgcc	6	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125889982G>A	ENST00000409134.3	-	13	1416	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron|RNU6-963P_ENST00000363477.1_RNA	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	399					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCCTTACCTTGCCCCCATAGA	0.493																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1195-1197)ggC>ggT		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						213	171	185					5																	125889982		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125889982G>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1197C>T	5.37:g.125889982G>A						ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	p.G399G	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	13	1416	-		all_cancers(142;0.24)|Prostate(80;0.081)	399					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.1197C>T	CCDS4137.2																																																																																				0.493	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		12	652	0	0	0	1	0	12	652					A	125889982	G	A	125889982	2	1	79	1	0	0	0	0	0	0	0	1	504	1306	46	2		2	ALDH7A1	5	125889982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1905324	125889982	55025278	6419	16736											
C5orf48	389320	broad.mit.edu	37	chr5	125971724	125971724	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattttcttttctcttagCaagcagaagtgtgtgggatc	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		66										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TTTCTCTTAGCAAGCAGAAGT	0.403																																						ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.e3-1		chromosome 5 open reading frame 48							130	136	134					5																	125971724		2203	4300	6503	SO:0001630	splice_region_variant	389320							g.chr5:125971724C>T																												ENST00000357147.3:c.196-1C>T	5.37:g.125971724C>T							p.Q66_splice	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			3	209	+			66						Splice_Site	SNP	ENST00000357147.3	37	c.195_splice	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942344	0.34283	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	2.4	0.29515	.	0.965309	0.08542	N	0.930383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9417	11.0187	0.47705	0.3391:0.6609:0.0:0.0	.	.	.	.	X	66	.	.	Q	+	1	0	C5orf48	125999623	0.639000	0.27234	0.152000	0.22495	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	0.462000	0.41574	CAA		0.403	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1		Nonsense_Mutation	37	865	0	0	0	1	0	37	865					T	125971724	C	T	125971724	5	4	79	1	0	0	0	0	0	0	1	0	2313	724	25	2	206	2	C5orf48	5	125971724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81742	125971724	54943536	6420	16737											
MEGF10	84466	broad.mit.edu	37	chr5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaactggtttaaatgcAcgcggcacaggtaatagaag	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	70	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(208-210)Acg>Gcg		multiple EGF-like-domains 10							110	96	101					5																	126674903		2203	4299	6502	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126674903A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.208A>G	5.37:g.126674903A>G	ENSP00000274473:p.Thr70Ala					MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A	p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	4	475	+		Prostate(80;0.165)	70			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.208A>G	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619901	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80304	-1.36;2.6;2.6;-1.36	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.40543	1.245	0.80722	D	1	P;D	0.57571	0.875;0.98	P;D	0.64595	0.729;0.927	T	0.80178	-0.1490	10	0.19147	T	0.46	-9.5407	15.3262	0.74164	1.0:0.0:0.0:0.0	.	70;70	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	70	ENSP00000423354:T70A;ENSP00000423195:T70A;ENSP00000416284:T70A;ENSP00000274473:T70A	ENSP00000274473:T70A	T	+	1	0	MEGF10	126702802	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	9.165000	0.94761	2.269000	0.75478	0.533000	0.62120	ACG		0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		76	326	0	0	0	1	0	76	326					G	126674903	A	G	126674903	3	3	79	1	0	0	0	0	1	0	0	0	9501	159	6	4	214	4	MEGF10	5	126674903	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	703179	126674903	54240357	6421	16738											
MEGF10	84466	broad.mit.edu	37	chr5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctaccacgggccattgcCgctgcctccccggatggtca	10	18	1	0	rs374111304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	558	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCCATTGCCGCTGCCTCCC	0.567																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1672-1674)Cgc>Tgc		multiple EGF-like-domains 10		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	31	30	30		1672	5.3	1	5		30	0,8600		0,0,4300	no	missense	MEGF10	NM_032446.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	558/1141	126758443	1,13005	2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126758443C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1672C>T	5.37:g.126758443C>T	ENSP00000274473:p.Arg558Cys					MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C	p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	14	1939	+		Prostate(80;0.165)	558			EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1672C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677266	0.68042	2.27E-4	0.0	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.51422	1.61	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.19946	0.005;0.027	T	0.34153	-0.9840	10	0.37606	T	0.19	-36.2978	19.2744	0.94026	0.0:1.0:0.0:0.0	.	558;558	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	558	ENSP00000423354:R558C;ENSP00000423195:R558C;ENSP00000416284:R558C;ENSP00000274473:R558C	ENSP00000274473:R558C	R	+	1	0	MEGF10	126786342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.636000	0.89361	0.650000	0.86243	CGC		0.567	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		34	179	0	0	0	1	0	34	179					T	126758443	C	T	126758443	3	4	79	1	0	0	0	0	1	0	0	0	9501	652	23	1	1718	1	MEGF10	5	126758443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83540	126758443	54156817	6422	16739											
MEGF10	84466	broad.mit.edu	37	chr5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtaaccccattgacagatCttgtcagtgttaccccggtt	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2059-2061)tCt>tTt		multiple EGF-like-domains 10							119	98	105					5																	126771137		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771137C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2060C>T	5.37:g.126771137C>T	ENSP00000274473:p.Ser687Phe					MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2327	+		Prostate(80;0.165)	687			EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2060C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254404	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56941	0.43;0.43	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77054	0.4074	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.78226	-0.2286	10	0.56958	D	0.05	-22.7363	20.5948	0.99439	0.0:1.0:0.0:0.0	.	687	Q96KG7	MEG10_HUMAN	F	687	ENSP00000423354:S687F;ENSP00000274473:S687F	ENSP00000274473:S687F	S	+	2	0	MEGF10	126799036	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.747000	0.85070	2.873000	0.98535	0.563000	0.77884	TCT		0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		32	129	0	0	0	1	0	32	129					T	126771137	C	T	126771137	3	4	79	1	0	0	0	0	1	0	0	0	9501	913	32	2	2118	2	MEGF10	5	126771137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12694	126771137	54144123	6423	16740											
MEGF10	84466	broad.mit.edu	37	chr5	126781188	126781188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatctgaacagcttaagccGaaccagtactgctctccctg	7	13	2	1	rs138372925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126781188G>A	ENST00000274473.6	+	21	2798	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2530-2532)cGa>cAa		multiple EGF-like-domains 10		G	GLN/ARG	0,4406		0,0,2203	160	153	156		2531	4.8	1	5	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF10	NM_032446.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	844/1141	126781188	1,13005	2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781188G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2531G>A	5.37:g.126781188G>A	ENSP00000274473:p.Arg844Gln					MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q|MEGF10_ENST00000510828.1_Intron	p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2798	+		Prostate(80;0.165)	844			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2531G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928558	0.52759	0.0	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56611	0.45;0.45	5.68	4.8	0.61643	.	0.129752	0.34314	N	0.004080	T	0.38453	0.1041	L	0.27053	0.805	0.36034	D	0.839609	B	0.18610	0.029	B	0.06405	0.002	T	0.36456	-0.9747	10	0.18276	T	0.48	-14.8769	14.9152	0.70792	0.0699:0.0:0.9301:0.0	.	844	Q96KG7	MEG10_HUMAN	Q	844	ENSP00000423354:R844Q;ENSP00000274473:R844Q	ENSP00000274473:R844Q	R	+	2	0	MEGF10	126809087	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	4.733000	0.62036	2.681000	0.91329	0.563000	0.77884	CGA		0.438	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		20	436	0	0	0	1	0	20	436					A	126781188	G	A	126781188	3	1	79	1	0	0	0	0	1	0	0	0	9501	1058	37	1	2605	1	MEGF10	5	126781188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10051	126781188	54134072	6424	16741											
PRRC1	133619	broad.mit.edu	37	chr5	126887430	126887430	+	Missense_Mutation	SNP	T	T	G													aactccccaggactataatcTgaggtggtcaggccttttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887430T>G	ENST00000296666.8	+	9	1348	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	387						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GACTATAATCTGAGGTGGTCA	0.408																																						ENST00000296666.8																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1159-1161)cTg>cGg		proline-rich coiled-coil 1							74	77	76					5																	126887430		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126887430T>G	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1160T>G	5.37:g.126887430T>G	ENSP00000296666:p.Leu387Arg					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R	p.L387R	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	9	1348	+		Prostate(80;0.165)	387					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1160T>G	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470550	0.84533	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.77987	0.4213	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.81050	-0.1108	9	0.87932	D	0	-15.0353	14.3682	0.66820	0.0:0.0:0.0:1.0	.	387	Q96M27	PRRC1_HUMAN	R	387	.	ENSP00000296666:L387R	L	+	2	0	PRRC1	126915329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.170000	0.68504	0.455000	0.32223	CTG		0.408	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		7	293	0	0	0	1	0	7	293					G	126887430	T	G	126887430	3	3	79	1	0	0	0	0	1	0	0	0	12651	1580	55	4	1190	4	PRRC1	5	126887430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106242	126887430	54027830	6425	16742	98	2									
PRRC1	133619	broad.mit.edu	37	chr5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A													caggactataatctgaggtgGtcaggccttttggtgacagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	389						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428																																						ENST00000296666.8																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1165-1167)tgG>tgA		proline-rich coiled-coil 1							78	81	80					5																	126887437		2203	4300	6503	SO:0001587	stop_gained	133619					Golgi apparatus		g.chr5:126887437G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1167G>A	5.37:g.126887437G>A	ENSP00000296666:p.Trp389*					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*	p.W389*	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	9	1355	+		Prostate(80;0.165)	389					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Nonsense_Mutation	SNP	ENST00000296666.8	37	c.1167G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613731	0.97705	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1058	17.8626	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000296666:W389X	W	+	3	0	PRRC1	126915336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.687000	0.91594	0.557000	0.71058	TGG		0.428	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		55	242	0	0	0	1	0	55	242					A	126887437	G	A	126887437	4	1	79	1	0	0	0	0	0	1	0	0	12651	1270	44	2	1197	2	PRRC1	5	126887437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	126887437	54027823	6426	16743	98	2									
SLC12A2	6558	broad.mit.edu	37	chr5	127484510	127484510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggttatgggaaaaataAtgaacctcttcgtggctaca	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127484510A>G	ENST00000262461.2	+	12	2135	c.1946A>G	c.(1945-1947)aAt>aGt	p.N649S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	649					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGGAAAAATAATGAACCTCTT	0.318																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1945-1947)aAt>aGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						183	185	184					5																	127484510		2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127484510A>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1946A>G	5.37:g.127484510A>G	ENSP00000262461:p.Asn649Ser					SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	12	2135	+		all_cancers(142;0.0972)|Prostate(80;0.151)	649					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1946A>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357851	0.61403	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98762	-5.12;-5.12	4.8	4.8	0.61643	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.71206	2.165	0.80722	D	1	B;B	0.29378	0.204;0.243	B;B	0.31686	0.082;0.134	D	0.97767	1.0224	10	0.48119	T	0.1	.	14.7822	0.69774	1.0:0.0:0.0:0.0	.	649;649	P55011-3;P55011	.;S12A2_HUMAN	S	649	ENSP00000262461:N649S;ENSP00000340878:N649S	ENSP00000262461:N649S	N	+	2	0	SLC12A2	127512409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.142000	0.66516	0.477000	0.44152	AAT		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		16	712	0	0	0	1	0	16	712					G	127484510	A	G	127484510	3	3	79	1	0	0	0	0	1	0	0	0	14433	101	4	4	1992	4	SLC12A2	5	127484510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597073	127484510	53430750	6427	16744											
SLC12A2	6558	broad.mit.edu	37	chr5	127497402	127497402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgatcaagccaaataTcagcgatggcttattaagaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	842					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AAGCCAAATATCAGCGATGGC	0.353																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2524-2526)taT>taC		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						62	57	59					5																	127497402		2203	4299	6502	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127497402T>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2526T>C	5.37:g.127497402T>C						SLC12A2_ENST00000343225.4_Silent_p.Y842Y	p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	17	2715	+		all_cancers(142;0.0972)|Prostate(80;0.151)	842					Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.2526T>C	CCDS4144.1																																																																																				0.353	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		13	61	0	0	0	1	0	13	61					C	127497402	T	C	127497402	2	2	79	1	0	0	0	0	0	0	0	1	14433	1442	50	4		4	SLC12A2	5	127497402	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12892	127497402	53417858	6428	16745											
FBN2	2201	broad.mit.edu	37	chr5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctccatcgggccttcGggccattccaggagggcaga	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; 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)		TCGGGCCTTCGGGCCATTCCA	0.517																																						ENST00000508053.1																			0				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						c.(6985-6987)Cga>Tga		fibrillin 2							146	123	131					5																	127622437		2203	4300	6503	SO:0001587	stop_gained	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.chr5:127622437G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6985C>T	5.37:g.127622437G>A	ENSP00000424571:p.Arg2329*					FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*	p.R2329*			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)	61	7959	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2329			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.6985C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	50	16.171019	0.99856	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.34	4.44	0.53790	.	0.116516	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5877	0.76499	0.0:0.0:0.8614:0.1386	.	.	.	.	X	2329	.	ENSP00000262464:R2329X	R	-	1	2	FBN2	127650336	0.997000	0.39634	0.992000	0.48379	0.481000	0.33189	4.601000	0.61090	1.557000	0.49525	0.650000	0.86243	CGA		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		50	230	0	0	0	1	0	50	230					A	127622437	G	A	127622437	4	1	79	1	0	0	0	0	0	1	0	0	5728	1124	39	1	1797	1	FBN2	5	127622437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125035	127622437	53292823	6429	16746											
FBN2	2201	broad.mit.edu	37	chr5	127671238	127671238	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgcactgggtgtcacaGcctccgttcattatcataca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127671238G>T	ENST00000508053.1	-	35	4730	c.3756C>A	c.(3754-3756)ggC>ggA	p.G1252G	FBN2_ENST00000507835.1_Silent_p.G102G|FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000508989.1_Silent_p.G1219G			P35556	FBN2_HUMAN	fibrillin 2	1252	EGF-like 19; 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)		GGGTGTCACAGCCTCCGTTCA	0.438																																						ENST00000508053.1																			0				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						c.(3754-3756)ggC>ggA		fibrillin 2							167	157	160					5																	127671238		2203	4300	6503	SO:0001819	synonymous_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.chr5:127671238G>T	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.3756C>A	5.37:g.127671238G>T						FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000507835.1_Silent_p.G102G|FBN2_ENST00000262464.4_Silent_p.G1252G	p.G1252G			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)	35	4730	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1252			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3756C>A	CCDS34222.1																																																																																				0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		31	923	1	0	5.45727e-16	1	5.98072e-16	31	923					T	127671238	G	T	127671238	2	4	79	1	0	0	0	0	0	0	0	1	5728	958	34	3		3	FBN2	5	127671238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48801	127671238	53244022	6430	16747											
FBN2	2201	broad.mit.edu	37	chr5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacggcatttgaagcttcCgattgtatttctgcacttcc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R			P35556	FBN2_HUMAN	fibrillin 2	1094	EGF-like 15; 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)		TTGAAGCTTCCGATTGTATTT	0.428																																						ENST00000508053.1																			0				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						c.(3280-3282)Gga>Aga		fibrillin 2							138	132	134					5																	127680140		2203	4300	6503	SO:0001583	missense	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.chr5:127680140C>T	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.3280G>A	5.37:g.127680140C>T	ENSP00000424571:p.Gly1094Arg					FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R|FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R	p.G1094R			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)	31	4254	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1094			EGF-like 15; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3280G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895790	0.52121	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.54	3.68	0.42216	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000008	D	0.99704	0.9887	H	0.98178	4.165	0.80722	D	1	D;D	0.61697	0.968;0.99	P;P	0.58820	0.846;0.821	D	0.97397	0.9993	10	0.87932	D	0	.	13.6728	0.62436	0.0:0.924:0.0:0.076	.	1061;1094	D6RJI3;P35556	.;FBN2_HUMAN	R	1094;1094;1061	ENSP00000262464:G1094R;ENSP00000424571:G1094R;ENSP00000425596:G1061R	ENSP00000262464:G1094R	G	-	1	0	FBN2	127708039	1.000000	0.71417	0.942000	0.38095	0.007000	0.05969	7.607000	0.82883	1.520000	0.48965	-0.266000	0.10368	GGA		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		109	528	0	0	0	1	0	109	528					T	127680140	C	T	127680140	3	4	79	1	0	0	0	0	1	0	0	0	5728	661	23	1	5622	1	FBN2	5	127680140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	127680140	53235120	6431	16748											
FBN2	2201	broad.mit.edu	37	chr5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactgcgcatgtgagTatctaaaggagatacaaaaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A			P35556	FBN2_HUMAN	fibrillin 2	700					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)		CGCATGTGAGTATCTAAAGGA	0.468																																						ENST00000508053.1																			0				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						c.(2098-2100)Act>Gct		fibrillin 2							116	90	99					5																	127705025		2203	4300	6503	SO:0001583	missense	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.chr5:127705025T>C	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.2098A>G	5.37:g.127705025T>C	ENSP00000424571:p.Thr700Ala					FBN2_ENST00000508989.1_Missense_Mutation_p.T667A|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000511489.1_5'UTR	p.T700A			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)	22	3072	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	700					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2098A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748941	0.69533	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92647	-3.08;-3.08;-2.72	4.35	4.35	0.52113	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.94159	0.8126	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.984	D;D	0.70487	0.969;0.956	D	0.93537	0.6874	10	0.40728	T	0.16	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	667;700	D6RJI3;P35556	.;FBN2_HUMAN	A	700;700;667	ENSP00000262464:T700A;ENSP00000424571:T700A;ENSP00000425596:T667A	ENSP00000262464:T700A	T	-	1	0	FBN2	127732924	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.825000	0.86693	2.186000	0.69663	0.533000	0.62120	ACT		0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	150	0	0	0	1	0	37	150					C	127705025	T	C	127705025	3	2	79	1	0	0	0	0	1	0	0	0	5728	1638	57	4	6840	4	FBN2	5	127705025	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24885	127705025	53210235	6432	16749											
FBN2	2201	broad.mit.edu	37	chr5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagcactcacggacaAtgcactggtttcctccaggg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2	111	EGF-like 1. {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)		CTCACGGACAATGCACTGGTT	0.612																																						ENST00000508053.1																			0				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						c.(331-333)aTt>aCt		fibrillin 2							79	65	70					5																	127872100		2203	4300	6503	SO:0001583	missense	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.chr5:127872100A>G	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.332T>C	5.37:g.127872100A>G	ENSP00000424571:p.Ile111Thr					FBN2_ENST00000508989.1_Missense_Mutation_p.I111T|FBN2_ENST00000262464.4_Missense_Mutation_p.I111T	p.I111T			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)	8	1306	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	111			EGF-like 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.332T>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067395	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.82;-1.82;-2.16;-0.15	5.32	5.32	0.75619	.	0.151063	0.44483	D	0.000451	D	0.90903	0.7141	M	0.65975	2.015	0.54753	D	0.999988	P;D;P;P	0.56521	0.867;0.976;0.651;0.651	B;P;B;B	0.57101	0.382;0.813;0.212;0.165	D	0.91538	0.5247	10	0.59425	D	0.04	.	15.4316	0.75105	1.0:0.0:0.0:0.0	.	111;111;111;111	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	111	ENSP00000262464:I111T;ENSP00000424571:I111T;ENSP00000425596:I111T;ENSP00000424753:I111T	ENSP00000262464:I111T	I	-	2	0	FBN2	127899999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.827000	0.92041	2.371000	0.80710	0.533000	0.62120	ATT		0.612	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	117	0	0	0	1	0	37	117					G	127872100	A	G	127872100	3	3	79	1	0	0	0	0	1	0	0	0	5728	101	4	4	8662	4	FBN2	5	127872100	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	167075	127872100	53043160	6433	16750											
SLC27A6	28965	broad.mit.edu	37	chr5	128302184	128302184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagcaatgagccggacttCgttcacgtgtggttcggcct	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(352-354)ttC>ttT		solute carrier family 27 (fatty acid transporter), member 6							82	62	69					5																	128302184		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302184C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.354C>T	5.37:g.128302184C>T						SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F	p.F118F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1364	+		all_cancers(142;0.0483)|Prostate(80;0.055)	118					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.354C>T	CCDS4145.1																																																																																				0.567	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		18	184	0	0	0	1	0	18	184					T	128302184	C	T	128302184	2	4	79	1	0	0	0	0	0	0	0	1	14580	883	31	1		1	SLC27A6	5	128302184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430084	128302184	52613076	6434	16751											
SLC27A6	28965	broad.mit.edu	37	chr5	128326153	128326153	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgctacctttgcaaacaatCtaaggtaggcgtaatcatta	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128326153C>A	ENST00000262462.4	+	4	1975	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	322					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCAAACAATCTAAGGTAGGC	0.323																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(964-966)tCt>tAt		solute carrier family 27 (fatty acid transporter), member 6							79	75	77					5																	128326153		2202	4299	6501	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128326153C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.965C>A	5.37:g.128326153C>A	ENSP00000262462:p.Ser322Tyr					SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y	p.S322Y			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1975	+		all_cancers(142;0.0483)|Prostate(80;0.055)	322					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.965C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984311	0.74474	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.155327	0.64402	D	0.000016	T	0.42877	0.1222	L	0.29908	0.895	0.40018	D	0.975374	P	0.35226	0.491	P	0.45558	0.485	T	0.19484	-1.0304	9	.	.	.	-4.9328	18.732	0.91738	0.0:1.0:0.0:0.0	.	322	Q9Y2P4	S27A6_HUMAN	Y	141;322;322;322	ENSP00000421759:S141Y;ENSP00000262462:S322Y;ENSP00000378684:S322Y;ENSP00000421024:S322Y	.	S	+	2	0	SLC27A6	128354052	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.230000	0.78097	2.835000	0.97688	0.650000	0.86243	TCT		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	197	1	0	1.58986e-06	1	1.64048e-06	11	197					A	128326153	C	A	128326153	3	1	79	1	0	0	0	0	1	0	0	0	14580	913	32	3	979	3	SLC27A6	5	128326153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23969	128326153	52589107	6435	16752											
ADAMTS19	171019	broad.mit.edu	37	chr5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgagcccctcttcatgtgGacacacacaagctgggaaga	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	919	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2755-2757)tgG>tgA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							90	87	88					5																	129019923		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129019923G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2757G>A	5.37:g.129019923G>A	ENSP00000274487:p.Trp919*					CTC-575N7.1_ENST00000503616.1_RNA	p.W919*	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	18	2902	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	919			TSP type-1 2.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.2757G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818119	0.98966	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	ADAMTS19	129047822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.821000	0.97095	0.650000	0.86243	TGG		0.423	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		77	335	0	0	0	1	0	77	335					A	129019923	G	A	129019923	4	1	79	1	0	0	0	0	0	1	0	0	264	1183	41	2	2827	2	ADAMTS19	5	129019923	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693770	129019923	51895337	6436	16753											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030537	129030537	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcaatgagcaaccAtgtcaaacaaggtaactcta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	975	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2923-2925)ccA>ccC		ADAM metallopeptidase with thrombospondin type 1 motif, 19							163	151	155					5																	129030537		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129030537A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2925A>C	5.37:g.129030537A>C						CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.P975P	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	3070	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	975			TSP type-1 2.			Silent	SNP	ENST00000274487.4	37	c.2925A>C	CCDS4146.1																																																																																				0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		105	403	0	0	0	1	0	105	403					C	129030537	A	C	129030537	2	2	79	1	0	0	0	0	0	0	0	1	264	204	8	4		4	ADAMTS19	5	129030537	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10614	129030537	51884723	6437	16754											
CHSY3	337876	broad.mit.edu	37	chr5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggactcagtgtgtctggtCttacgaggtaagcatggagc	15	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CTC-575N7.1_ENST00000515569.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	360					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1078-1080)tCt>tAt		chondroitin sulfate synthase 3							151	134	140					5																	129244046		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129244046C>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1079C>A	5.37:g.129244046C>A	ENSP00000302629:p.Ser360Tyr					CHSY3_ENST00000507545.1_3'UTR	p.S360Y	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	1437	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	360					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1079C>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399658	0.83120	.	.	ENSG00000198108	ENST00000305031	D	0.85013	-1.93	4.22	4.22	0.49857	.	0.205916	0.24662	N	0.036634	D	0.89511	0.6736	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	D	0.89718	0.3917	9	.	.	.	0.0434	17.8917	0.88874	0.0:1.0:0.0:0.0	.	360	Q70JA7	CHSS3_HUMAN	Y	360	ENSP00000302629:S360Y	.	S	+	2	0	CHSY3	129271945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.645000	0.89757	0.591000	0.81541	TCT		0.428	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		47	188	1	0	1.6237e-14	1	1.76477e-14	47	188					A	129244046	C	A	129244046	3	1	79	1	0	0	0	0	1	0	0	0	3422	913	32	3	1085	3	CHSY3	5	129244046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213509	129244046	51671214	6438	16755											
CHSY3	337876	broad.mit.edu	37	chr5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcagggacaacaggtgtActatcccatcatctttagcc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	742					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2224-2226)tAc>tGc		chondroitin sulfate synthase 3							117	110	113					5																	129521060		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521060A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2225A>G	5.37:g.129521060A>G	ENSP00000302629:p.Tyr742Cys						p.Y742C	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2583	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	742					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2225A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932410	0.52866	.	.	ENSG00000198108	ENST00000305031	T	0.26957	1.7	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.56601	0.1996	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65565	-0.6137	9	.	.	.	-3.2014	14.5729	0.68224	1.0:0.0:0.0:0.0	.	742	Q70JA7	CHSS3_HUMAN	C	742	ENSP00000302629:Y742C	.	Y	+	2	0	CHSY3	129548959	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.087000	0.94110	2.171000	0.68590	0.528000	0.53228	TAC		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		110	445	0	0	0	1	0	110	445					G	129521060	A	G	129521060	3	3	79	1	0	0	0	0	1	0	0	0	3422	391	14	4	2235	4	CHSY3	5	129521060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	277014	129521060	51394200	6439	16756											
CDC42SE2	56990	broad.mit.edu	37	chr5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatattttagaaaaggcgaCggcggattgacagaagtatg	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000505065.1	+	4	585	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	22	Poly-Arg.				phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAAAGGCGACGGCGGATTGA	0.373																																						ENST00000505065.1																			0				breast(1)|large_intestine(1)|skin(1)	3						c.(64-66)Cgg>Tgg		CDC42 small effector 2							99	95	96					5																	130721245		2203	4300	6503	SO:0001583	missense	56990				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity	g.chr5:130721245C>T	AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985			18547	protein-coding gene	gene with protein product						10816584	Standard	NM_020240		Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000505065.1:c.64C>T	5.37:g.130721245C>T	ENSP00000427421:p.Arg22Trp					CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W	p.R22W			Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	585	+		all_cancers(142;0.0525)|Breast(839;0.198)	22			Poly-Arg.		B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	37	c.64C>T	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063430	0.55432	.	.	ENSG00000158985	ENST00000395246;ENST00000360515;ENST00000505065	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000011	T	0.62319	0.2418	.	.	.	0.48632	D	0.999688	D	0.64830	0.994	P	0.52066	0.689	T	0.65129	-0.6243	8	0.66056	D	0.02	-46.6221	10.266	0.43455	0.1969:0.8031:0.0:0.0	.	22	Q9NRR3	C42S2_HUMAN	W	22	.	ENSP00000353706:R22W	R	+	1	2	CDC42SE2	130749144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.663000	0.46774	2.797000	0.96272	0.563000	0.77884	CGG		0.373	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	NM_020240		71	319	0	0	0	1	0	71	319					T	130721245	C	T	130721245	3	4	79	1	0	0	0	0	1	0	0	0	3089	527	19	1	70	1	CDC42SE2	5	130721245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1200185	130721245	50194015	6440	16757											
CDC42SE2	56990	broad.mit.edu	37	chr5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatggaggtggaatgcctGccaatgtccagatgcagctc	13	9	0	1	rs377082180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000505065.1	+	5	735	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	72					phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAATGCCTGCCAATGTCCA	0.498																																						ENST00000505065.1																			0				breast(1)|large_intestine(1)|skin(1)	3						c.(214-216)Gcc>Acc		CDC42 small effector 2							126	116	119					5																	130726743		2203	4300	6503	SO:0001583	missense	56990				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity	g.chr5:130726743G>A	AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985			18547	protein-coding gene	gene with protein product						10816584	Standard	NM_020240		Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000505065.1:c.214G>A	5.37:g.130726743G>A	ENSP00000427421:p.Ala72Thr					CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T	p.A72T			Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	735	+		all_cancers(142;0.0525)|Breast(839;0.198)	72					B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	37	c.214G>A	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271740	0.40194	.	.	ENSG00000158985	ENST00000395246;ENST00000503291;ENST00000360515;ENST00000505065	.	.	.	5.32	3.43	0.39272	.	0.147481	0.46758	N	0.000267	T	0.34483	0.0899	.	.	.	0.35614	D	0.808895	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.22706	T	0.39	-11.125	8.3657	0.32385	0.0841:0.0:0.7605:0.1553	.	72	Q9NRR3	C42S2_HUMAN	T	72;45;72;72	.	ENSP00000353706:A72T	A	+	1	0	CDC42SE2	130754642	1.000000	0.71417	0.717000	0.30585	0.628000	0.37860	4.504000	0.60414	1.630000	0.50440	0.655000	0.94253	GCC		0.498	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	NM_020240		20	421	0	0	0	1	0	20	421					A	130726743	G	A	130726743	3	1	79	1	0	0	0	0	1	0	0	0	3089	1319	46	2	224	2	CDC42SE2	5	130726743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5498	130726743	50188517	6441	16758											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766994	130766994	+	Silent	SNP	C	C	T													atctcttcattgctcacagaCgatgagacagctaaacactt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000509018.1	-	26	4228	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	RAPGEF6_ENST00000507093.1_Silent_p.S1349S|CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4021-4023)tcG>tcA		Rap guanine nucleotide exchange factor (GEF) 6							84	84	84					5																	130766994		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766994C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4023G>A	5.37:g.130766994C>T						RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S|FNIP1_ENST00000514667.1_Silent_p.S1391S	p.S1341S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4228	-			1341			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4023G>A	CCDS34225.1																																																																																				0.423	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		71	302	0	0	0	1	0	71	302					T	130766994	C	T	130766994	2	4	79	1	0	0	0	0	0	0	0	1	13098	523	19	1		1	RAPGEF6	5	130766994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40251	130766994	50148266	6442	16759	99	2									
RAPGEF6	51735	broad.mit.edu	37	chr5	130767004	130767004	+	Missense_Mutation	SNP	G	G	A													tgctcacagacgatgagacaGctaaacacttgattagagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130767004G>A	ENST00000509018.1	-	26	4218	c.4013C>T	c.(4012-4014)gCt>gTt	p.A1338V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1388V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1338	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGATGAGACAGCTAAACACTT	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4012-4014)gCt>gTt		Rap guanine nucleotide exchange factor (GEF) 6							80	81	81					5																	130767004		2203	4299	6502	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130767004G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4013C>T	5.37:g.130767004G>A	ENSP00000421684:p.Ala1338Val					RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V|FNIP1_ENST00000514667.1_Missense_Mutation_p.A1388V	p.A1338V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4218	-			1338			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4013C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549410	0.45383	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26810	1.81;1.71;1.72;1.82;1.9	5.11	4.24	0.50183	.	0.331224	0.33515	N	0.004824	T	0.28034	0.0691	L	0.60455	1.87	0.80722	D	1	B;B;B;B;B	0.18968	0.009;0.032;0.032;0.015;0.009	B;B;B;B;B	0.28232	0.04;0.04;0.066;0.087;0.04	T	0.05321	-1.0892	10	0.35671	T	0.21	.	12.0526	0.53515	0.0802:0.0:0.9198:0.0	.	1346;1346;1388;1351;1338	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	V	1338;1351;1346;1346;1351;1388	ENSP00000421684:A1338V;ENSP00000309298:A1351V;ENSP00000426081:A1346V;ENSP00000296859:A1346V;ENSP00000426948:A1388V	ENSP00000426948:A1388V	A	-	2	0	RAPGEF6;FNIP1	130794903	1.000000	0.71417	0.994000	0.49952	0.615000	0.37417	5.650000	0.67944	1.301000	0.44836	0.655000	0.94253	GCT		0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	375	0	0	0	1	0	7	375					A	130767004	G	A	130767004	3	1	79	1	0	0	0	0	1	0	0	0	13098	971	34	2	804	2	RAPGEF6	5	130767004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	130767004	50148256	6443	16760	99	2									
RAPGEF6	51735	broad.mit.edu	37	chr5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtcgaaacatcatagCtgggtccatgttagcagaag	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000509018.1	-	21	3386	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1061	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACATCATAGCTGGGTCCATG	0.343																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3181-3183)Gct>Tct		Rap guanine nucleotide exchange factor (GEF) 6							118	120	119					5																	130788766		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130788766C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3181G>T	5.37:g.130788766C>A	ENSP00000421684:p.Ala1061Ser					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S|FNIP1_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S	p.A1061S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	21	3386	-			1061			Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3181G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536943	0.85812	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.29142	1.83;1.69;1.69;1.78;1.58;1.61;1.92	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35341	1.055	0.80722	D	1	P;B;D;D;D;D;B	0.89917	0.942;0.23;0.966;1.0;1.0;0.999;0.119	P;B;P;D;D;D;B	0.87578	0.816;0.168;0.832;0.997;0.998;0.993;0.168	T	0.35871	-0.9771	10	0.41790	T	0.15	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1061;1061;1061;776;1111;1066;1061	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	1061;1066;1061;1061;1066;776;1061;1111	ENSP00000421684:A1061S;ENSP00000309298:A1066S;ENSP00000426081:A1061S;ENSP00000296859:A1061S;ENSP00000426910:A776S;ENSP00000311419:A1061S;ENSP00000426948:A1111S	ENSP00000426948:A1111S	A	-	1	0	RAPGEF6;FNIP1	130816665	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.814000	0.86154	2.460000	0.83146	0.467000	0.42956	GCT		0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		65	341	1	0	3.12118e-38	1	3.75939e-38	65	341					A	130788766	C	A	130788766	3	1	79	1	0	0	0	0	1	0	0	0	13098	797	28	3	2119	3	RAPGEF6	5	130788766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21762	130788766	50126494	6444	16761											
RAPGEF6	51735	broad.mit.edu	37	chr5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcaactttatggGtatttttttccacatggttt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000509018.1	-	11	1365	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	387					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTTATGGGTATTTTTTTC	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1159-1161)aCc>aTc		Rap guanine nucleotide exchange factor (GEF) 6							155	143	147					5																	130840413		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130840413G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1160C>T	5.37:g.130840413G>A	ENSP00000421684:p.Thr387Ile					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I|FNIP1_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I	p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	11	1365	-			387					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1160C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381312	0.42207	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.0	5.0	0.66597	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;P;B	0.36378	0.415;0.059;0.194;0.123;0.435;0.55;0.063	B;B;B;B;B;B;B	0.41988	0.081;0.031;0.143;0.1;0.157;0.372;0.1	T	0.03981	-1.0987	10	0.28530	T	0.3	.	18.2856	0.90113	0.0:0.0:1.0:0.0	.	387;387;387;102;437;387;387	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	I	387;387;387;387;387;102;387;387;437	ENSP00000421684:T387I;ENSP00000309298:T387I;ENSP00000426081:T387I;ENSP00000296859:T387I;ENSP00000426910:T102I;ENSP00000311419:T387I;ENSP00000425389:T387I;ENSP00000426948:T437I	ENSP00000426948:T437I	T	-	2	0	RAPGEF6;FNIP1	130868312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.785000	0.68998	2.324000	0.78689	0.313000	0.20887	ACC		0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		91	302	0	0	0	1	0	91	302					A	130840413	G	A	130840413	3	1	79	1	0	0	0	0	1	0	0	0	13098	1261	44	2	4203	2	RAPGEF6	5	130840413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51647	130840413	50074847	6445	16762											
RAPGEF6	51735	broad.mit.edu	37	chr5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagcctttcacaagcacaGatccagaaagtaggatatac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000509018.1	-	4	447	c.242C>T	c.(241-243)tCt>tTt	p.S81F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	81					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAAGCACAGATCCAGAAAG	0.353																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(241-243)tCt>tTt		Rap guanine nucleotide exchange factor (GEF) 6							108	90	96					5																	130928115		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130928115G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.242C>T	5.37:g.130928115G>A	ENSP00000421684:p.Ser81Phe					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S131F	p.S81F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	4	447	-			81					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.242C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163123	0.78226	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000011	T	0.50973	0.1647	M	0.83384	2.64	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	0.91635	0.998;0.998;0.999;0.998;0.999;0.972	T	0.59172	-0.7504	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.0:1.0:0.0	.	81;81;81;131;81;81	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	81;81;81;81;81;81;81;131	ENSP00000421684:S81F;ENSP00000309298:S81F;ENSP00000426081:S81F;ENSP00000296859:S81F;ENSP00000311419:S81F;ENSP00000425389:S81F;ENSP00000426948:S131F	ENSP00000426948:S131F	S	-	2	0	RAPGEF6;FNIP1	130956014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.317000	0.78254	0.563000	0.77884	TCT		0.353	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		26	183	0	0	0	1	0	26	183					A	130928115	G	A	130928115	3	1	79	1	0	0	0	0	1	0	0	0	13098	942	33	2	5149	2	RAPGEF6	5	130928115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87702	130928115	49987145	6446	16763											
FNIP1	96459	broad.mit.edu	37	chr5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtctcctccaggttTcagttggcagcatttcccaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000510461.1	-	3	366	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	FNIP1_ENST00000307954.8_Intron|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	91					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCTCCAGGTTTCAGTTGGCAG	0.373																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(271-273)Aaa>Gaa		folliculin interacting protein 1							94	92	93					5																	131066680		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131066680T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.271A>G	5.37:g.131066680T>C	ENSP00000421985:p.Lys91Glu					FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000510461.1_Missense_Mutation_p.K91E|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Intron	p.K91E	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	3	270	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.271A>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877420	0.51801	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	.	.	.	.	.	T	0.31295	0.0792	L	0.29908	0.895	0.42460	D	0.992788	B;P;B	0.41848	0.25;0.763;0.336	B;B;B	0.36464	0.117;0.225;0.138	T	0.09207	-1.0685	9	0.30854	T	0.27	-6.0328	15.4806	0.75524	0.0:0.0:0.0:1.0	.	91;91;91	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	E	91	ENSP00000309266:K91E;ENSP00000421985:K91E;ENSP00000425619:K91E	ENSP00000309266:K91E	K	-	1	0	FNIP1	131094579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	AAA		0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		67	295	0	0	0	1	0	67	295					C	131066680	T	C	131066680	3	2	79	1	0	0	0	0	1	0	0	0	6000	1792	62	4	3293	4	FNIP1	5	131066680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138565	131066680	49848580	6447	16764											
FNIP1	96459	broad.mit.edu	37	chr5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgatactgatatgtcCtcatttcttctcttaacact	3	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000510461.1	-	2	299	c.204G>T	c.(202-204)gaG>gaT	p.E68D	FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	68					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGATATGTCCTCATTTCTTC	0.363																																						ENST00000514667.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(202-204)gaG>gaT		folliculin interacting protein 1							158	144	149					5																	131080272		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131080272C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.204G>T	5.37:g.131080272C>A	ENSP00000421985:p.Glu68Asp					FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D	p.E68D					KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	2	265	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.204G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062649	0.36373	.	.	ENSG00000217128	ENST00000514667;ENST00000307968;ENST00000307954;ENST00000510461;ENST00000511848	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.88	1.64	0.23874	.	.	.	.	.	T	0.16300	0.0392	N	0.03948	-0.315	0.43819	D	0.99638	B;B;B;B;B	0.30563	0.096;0.011;0.037;0.285;0.0	B;B;B;B;B	0.28553	0.038;0.016;0.024;0.091;0.0	T	0.05683	-1.0870	9	0.21540	T	0.41	-8.4916	6.2545	0.20865	0.1222:0.5277:0.0:0.3501	.	68;68;68;68;68	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40;E9PCH4	.;.;.;FNIP1_HUMAN;.	D	68	ENSP00000426948:E68D;ENSP00000309266:E68D;ENSP00000310453:E68D;ENSP00000421985:E68D;ENSP00000425619:E68D	ENSP00000310453:E68D	E	-	3	2	FNIP1	131108171	0.571000	0.26659	1.000000	0.80357	0.986000	0.74619	-0.326000	0.07965	0.396000	0.25283	0.655000	0.94253	GAG		0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		74	354	1	0	2.88734e-31	1	3.39666e-31	74	354					A	131080272	C	A	131080272	3	1	79	1	0	0	0	0	1	0	0	0	6000	680	24	3	3364	3	FNIP1	5	131080272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13592	131080272	49834988	6448	16765											
ACSL6	23305	broad.mit.edu	37	chr5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctacctgaggtccagtCgccaggagtggtgaaggtac	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379240.1	-	15	1573	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|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)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498																																						ENST00000379264.2																			2	Substitution - Missense(2)	p.D499Y(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1495-1497)Gac>Aac		acyl-CoA synthetase long-chain family member 6							171	150	157					5																	131305833		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131305833C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1420G>A	5.37:g.131305833C>T	ENSP00000368542:p.Asp474Asn					ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N	p.D499N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	1603	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	474					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.275160	0.95459	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D;D;D	0.61080	0.708;0.986;0.989;0.752;0.961;0.961;0.961	B;P;P;P;P;P;P	0.55508	0.401;0.534;0.777;0.537;0.534;0.534;0.534	T	0.71464	-0.4585	10	0.72032	D	0.01	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	474;489;464;474;399;499;499	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474N;ENSP00000368566:D499N;ENSP00000368574:D489N;ENSP00000349608:D399N;ENSP00000368557:D399N;ENSP00000296869:D499N;ENSP00000368548:D485N;ENSP00000368546:D474N;ENSP00000445154:D383N;ENSP00000368542:D474N;ENSP00000413329:D454N;ENSP00000442124:D474N	ENSP00000296869:D499N	D	-	1	0	ACSL6	131333732	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.792000	0.85828	2.575000	0.86900	0.644000	0.83932	GAC		0.498	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		22	711	0	0	0	1	0	22	711					T	131305833	C	T	131305833	3	4	79	1	0	0	0	0	1	0	0	0	181	884	31	1	701	1	ACSL6	5	131305833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225561	131305833	49609427	6449	16766											
ACSL6	23305	broad.mit.edu	37	chr5	131329877	131329877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtcccaagtcacctagCtcaggcagtcgcagtatcct	8	14	2	0	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379240.1	-	2	195	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379246.1_Silent_p.E25E			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	14					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|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)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCACCTAGCTCAGGCAGTC	0.542																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(115-117)gaG>gaA		acyl-CoA synthetase long-chain family member 6							79	64	69					5																	131329877		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131329877C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.42G>A	5.37:g.131329877C>T						ACSL6_ENST00000379240.1_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000431707.1_Silent_p.E14E	p.E39E	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	225	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	14					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.117G>A																																																																																					0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		37	147	0	0	0	1	0	37	147					T	131329877	C	T	131329877	2	4	79	1	0	0	0	0	0	0	0	1	181	796	28	2		2	ACSL6	5	131329877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24044	131329877	49585383	6450	16767											
P4HA2	8974	broad.mit.edu	37	chr5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagcatagctgaggtagtCcagcacctgtgacttggttg	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	211					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(631-633)Gac>Aac		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						202	185	191					5																	131546055		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546055C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.631G>A	5.37:g.131546055C>T	ENSP00000384999:p.Asp211Asn					P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N	p.D211N			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1199	-		all_cancers(142;0.103)|Breast(839;0.198)	211					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.631G>A	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842700	0.97016	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.77112	-0.2708	10	0.87932	D	0	-0.8403	20.3151	0.98650	0.0:1.0:0.0:0.0	.	211;211	O15460;O15460-2	P4HA2_HUMAN;.	N	211	ENSP00000384999:D211N;ENSP00000368379:D211N;ENSP00000166534:D211N;ENSP00000353772:D211N;ENSP00000368398:D211N;ENSP00000368394:D211N	ENSP00000166534:D211N	D	-	1	0	P4HA2	131573954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.809000	0.96659	0.467000	0.42956	GAC		0.567	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		124	673	0	0	0	1	0	124	673					T	131546055	C	T	131546055	3	4	79	1	0	0	0	0	1	0	0	0	11399	855	30	2	1080	2	P4HA2	5	131546055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216178	131546055	49369205	6451	16768											
SLC22A4	6583	broad.mit.edu	37	chr5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcagaaagctttcatTctggacctgttcaggactcg	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	329					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAGCTTTCATTCTGGACCTGT	0.398																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(985-987)atT>atG		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						170	165	167					5																	131667484		2203	4300	6503	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131667484T>G	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.987T>G	5.37:g.131667484T>G	ENSP00000200652:p.Ile329Met					AC034220.3_ENST00000417795.1_RNA	p.I329M	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1161	+		all_cancers(142;0.0752)|Breast(839;0.198)	329					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.987T>G	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440925	0.25900	.	.	ENSG00000197208	ENST00000200652	T	0.74947	-0.89	5.86	-0.898	0.10550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307285	0.39834	N	0.001253	T	0.72407	0.3456	M	0.71581	2.175	0.36416	D	0.864046	B	0.32467	0.372	B	0.39771	0.309	T	0.70498	-0.4855	10	0.35671	T	0.21	.	11.4059	0.49898	0.0:0.3915:0.0:0.6085	.	329	Q9H015	S22A4_HUMAN	M	329	ENSP00000200652:I329M	ENSP00000200652:I329M	I	+	3	3	SLC22A4	131695383	0.990000	0.36364	0.992000	0.48379	0.179000	0.23085	0.358000	0.20216	-0.096000	0.12329	-0.290000	0.09829	ATT		0.398	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		116	466	0	0	0	1	0	116	466					G	131667484	T	G	131667484	3	3	79	1	0	0	0	0	1	0	0	0	14506	1771	62	4	1009	4	SLC22A4	5	131667484	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121429	131667484	49247776	6452	16769											
SLC22A5	6584	broad.mit.edu	37	chr5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcccagcatatgtgttggCctggctgctgctgcaatatt	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	390					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TATGTGTTGGCCTGGCTGCTG	0.537																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1168-1170)gCc>gAc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						152	125	134					5																	131726498		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131726498C>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1169C>A	5.37:g.131726498C>A	ENSP00000245407:p.Ala390Asp					SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	p.A390D	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1390	+		all_cancers(142;0.0751)|Breast(839;0.198)	390					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1169C>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423802	0.83667	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.79554	-1.28;-1.28	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202170	0.52532	D	0.000065	D	0.89128	0.6627	M	0.90542	3.125	0.49130	D	0.999754	P;P	0.49447	0.924;0.872	P;P	0.49597	0.616;0.616	D	0.89610	0.3841	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;390	A2Q0V1;O76082	.;S22A5_HUMAN	D	390;414	ENSP00000245407:A390D;ENSP00000402760:A414D	ENSP00000245407:A390D	A	+	2	0	SLC22A5	131754397	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GCC		0.537	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		74	332	1	0	2.0493e-37	1	2.46103e-37	74	332					A	131726498	C	A	131726498	3	1	79	1	0	0	0	0	1	0	0	0	14507	739	26	3	1195	3	SLC22A5	5	131726498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59014	131726498	49188762	6453	16770											
IRF1	3659	broad.mit.edu	37	chr5	131820175	131820175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtttgttggctgccactcCgactgctccaagagctgggg	13	12	0	1	rs201186445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	244					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22090	0.001		0.0	False		,,,				2504	0.0					ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(730-732)tcG>tcA		interferon regulatory factor 1							115	114	114					5																	131820175		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820175C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.732G>A	5.37:g.131820175C>T						IRF1_ENST00000405885.2_Silent_p.S244S	p.S244S	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	990	-		all_cancers(142;0.026)|Breast(839;0.198)	244					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.732G>A	CCDS4155.1																																																																																				0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		94	509	0	0	0	1	0	94	509					T	131820175	C	T	131820175	2	4	79	1	0	0	0	0	0	0	0	1	7857	639	23	1		1	IRF1	5	131820175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93677	131820175	49095085	6454	16771											
IRF1	3659	broad.mit.edu	37	chr5	131821409	131821409	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcctcatctgttgtagCtgtggatggggaaagcagag	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e8-1		interferon regulatory factor 1							254	185	208					5																	131821409		2203	4300	6503	SO:0001630	splice_region_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131821409C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.668-1G>A	5.37:g.131821409C>T						IRF1_ENST00000405885.2_Splice_Site		NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	8	926	-		all_cancers(142;0.026)|Breast(839;0.198)						Q96GG7	Splice_Site	SNP	ENST00000245414.4	37		CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609289	0.66558	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3525	0.43945	0.0:0.907:0.0:0.093	.	.	.	.	.	-1	.	.	.	-	.	.	IRF1	131849308	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.691000	0.37721	2.826000	0.97356	0.655000	0.94253	.		0.537	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198	Intron	52	310	0	0	0	1	0	52	310					T	131821409	C	T	131821409	5	4	79	1	0	0	0	0	0	0	1	0	7857	811	28	2	322	2	IRF1	5	131821409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234	131821409	49093851	6455	16772											
RAD50	10111	broad.mit.edu	37	chr5	131945022	131945022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctcaactaagtgaatgCgagaaacacaaagaaaagat	8	6	1	4	rs375264148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131945022C>T	ENST00000265335.6	+	19	3357	c.2970C>T	c.(2968-2970)tgC>tgT	p.C990C	RAD50_ENST00000378823.3_Silent_p.C851C			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	990					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGTGAATGCGAGAAACACA	0.289								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2551-2553)tgC>tgT	Homologous recombination	RAD50 homolog (S. cerevisiae)		C		0,4406		0,0,2203	68	66	67		2970	-2.2	1	5		67	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RAD50	NM_005732.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		990/1313	131945022	1,12993	2203	4294	6497	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131945022C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2970C>T	5.37:g.131945022C>T						RAD50_ENST00000265335.6_Silent_p.C990C	p.C851C	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	3371	+		all_cancers(142;0.0368)|Breast(839;0.198)	990					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.2553C>T	CCDS34233.1																																																																																				0.289	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		5	194	0	0	0	1	0	5	194					T	131945022	C	T	131945022	2	4	79	1	0	0	0	0	0	0	0	1	13034	776	27	1		1	RAD50	5	131945022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123613	131945022	48970238	6456	16773											
SEPT8	23176	broad.mit.edu	37	chr5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctgtgggtctgctcgCggaggtcttccatgttcacc	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000378719.2	-	7	1103	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	289	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(865-867)cGc>cAc		septin 8							66	74	71					5																	132097246		2191	4295	6486	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132097246C>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.866G>A	5.37:g.132097246C>T	ENSP00000367991:p.Arg289His					SEPT8_ENST00000378719.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H	p.R289H	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1149	-		all_cancers(142;0.0751)|Breast(839;0.198)	289					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.866G>A	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514590	0.85389	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.28	3.49	0.39957	.	0.053680	0.64402	D	0.000001	D	0.91942	0.7448	M	0.92268	3.29	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.91599	0.5293	10	0.87932	D	0	.	9.9392	0.41570	0.1392:0.7891:0.0:0.0717	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	289;287;289;229;289;229;287;289	ENSP00000367991:R289H;ENSP00000367993:R287H;ENSP00000296873:R289H;ENSP00000399840:R229H;ENSP00000367978:R289H;ENSP00000367971:R229H;ENSP00000367973:R287H;ENSP00000394766:R289H	ENSP00000296873:R289H	R	-	2	0	SEPT8	132125145	1.000000	0.71417	0.546000	0.28166	0.863000	0.49368	6.089000	0.71384	0.606000	0.29965	0.561000	0.74099	CGC		0.587	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		69	291	0	0	0	1	0	69	291					T	132097246	C	T	132097246	3	4	79	1	0	0	0	0	1	0	0	0	14120	768	27	1	656	1	SEPT8	5	132097246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152224	132097246	48818014	6457	16774											
SHROOM1	134549	broad.mit.edu	37	chr5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaggcacaatgcaggtctCtgagaccctctgttcactgt	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	374					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAGGTCTCTGAGACCCTC	0.582																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1120-1122)Gag>Tag		shroom family member 1							74	80	78					5																	132160428		2203	4300	6503	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160428C>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1120G>T	5.37:g.132160428C>A	ENSP00000367950:p.Glu374*					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron	p.E374*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1924	-			374					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.1120G>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010848	0.93346	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	.	.	.	3.49	2.58	0.30949	.	1.873330	0.02512	N	0.091585	.	.	.	.	.	.	0.29218	N	0.874146	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.639	6.0514	0.19787	0.0:0.8501:0.0:0.1499	.	.	.	.	X	374	.	ENSP00000324245:E374X	E	-	1	0	SHROOM1	132188327	0.001000	0.12720	0.297000	0.24988	0.651000	0.38670	0.293000	0.19029	0.986000	0.38683	0.561000	0.74099	GAG		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		20	474	1	0	1.37522e-17	1	1.51956e-17	20	474					A	132160428	C	A	132160428	4	1	79	1	0	0	0	0	0	1	0	0	14343	922	32	3	1458	3	SHROOM1	5	132160428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63182	132160428	48754832	6458	16775											
SHROOM1	134549	broad.mit.edu	37	chr5	132160764	132160764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgctccttggggaacaGcctggaagggtgaacagtcg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Splice_Site_p.A327V|SHROOM1_ENST00000378676.1_Splice_Site_p.A327V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	327					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGGGAACAGCCTGGAAGGG	0.532																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.e5-1		shroom family member 1							132	140	137					5																	132160764		2203	4300	6503	SO:0001630	splice_region_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160764G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.979-1C>T	5.37:g.132160764G>A						SHROOM1_ENST00000319854.3_Splice_Site_p.A327_splice|SHROOM1_ENST00000378676.1_Splice_Site_p.A327_splice	p.A327_splice	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1784	-			327					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Splice_Site	SNP	ENST00000378679.3	37	c.978_splice	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672525	0.29693	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27890	1.64;1.64;1.64	4.64	1.7	0.24286	.	1.006700	0.07999	N	0.988432	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.27262	0.078;0.036	T	0.31251	-0.9950	10	0.30854	T	0.27	-2.3592	4.3089	0.10960	0.2093:0.1905:0.6002:0.0	.	327;327	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	327	ENSP00000367950:A327V;ENSP00000324245:A327V;ENSP00000367947:A327V	ENSP00000324245:A327V	A	-	2	0	SHROOM1	132188663	0.463000	0.25799	0.782000	0.31804	0.183000	0.23260	0.542000	0.23222	0.562000	0.29204	0.561000	0.74099	GCT		0.532	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	Missense_Mutation	13	416	0	0	0	1	0	13	416					A	132160764	G	A	132160764	5	1	79	1	0	0	0	0	0	0	1	0	14343	985	34	2	1602	2	SHROOM1	5	132160764	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	132160764	48754496	6459	16776											
SHROOM1	134549	broad.mit.edu	37	chr5	132160909	132160909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaacccaagacttcgccTgaagcgctccgactccgact	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGACTTCGCCTGAAGCGCTCC	0.617																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(922-924)tcA>tcG		shroom family member 1							39	44	42					5																	132160909		2203	4300	6503	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160909T>C	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.924A>G	5.37:g.132160909T>C						SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S	p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	1728	-			308					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.924A>G	CCDS54902.1																																																																																				0.617	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		36	151	0	0	0	1	0	36	151					C	132160909	T	C	132160909	2	2	79	1	0	0	0	0	0	0	0	1	14343	1567	55	4		4	SHROOM1	5	132160909	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	132160909	48754351	6460	16777											
GDF9	2661	broad.mit.edu	37	chr5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaattgtctgaagTattcactcagattgaaggaa	10	4	3	5	rs182590484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C			O60383	GDF9_HUMAN	growth differentiation factor 9	342					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(1024-1026)tAc>tGc		growth differentiation factor 9							67	70	69					5																	132197621		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197621T>C		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1025A>G	5.37:g.132197621T>C	ENSP00000367942:p.Tyr342Cys					GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C	p.Y342C			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1891	-		all_cancers(142;0.105)|Breast(839;0.198)	342					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.1025A>G	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319266	0.60524	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	6.13	0.99165	Transforming growth factor-beta, C-terminal (1);	0.122391	0.56097	D	0.000021	D	0.90672	0.7074	M	0.86178	2.8	0.51012	D	0.999901	D	0.89917	1.0	D	0.77557	0.99	D	0.91699	0.5372	10	0.66056	D	0.02	.	16.4513	0.83991	0.0:0.0:0.0:1.0	.	342	O60383	GDF9_HUMAN	C	342	ENSP00000367942:Y342C;ENSP00000296875:Y342C	ENSP00000296875:Y342C	Y	-	2	0	GDF9	132225520	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.434000	0.66526	2.364000	0.80123	0.524000	0.50904	TAC		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		70	323	0	0	0	1	0	70	323					C	132197621	T	C	132197621	3	2	79	1	0	0	0	0	1	0	0	0	6348	1638	57	4	343	4	GDF9	5	132197621	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36712	132197621	48717639	6461	16778											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334384	132334384	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatcagaggaggaggaaGaggttgtggaggaggctgag	20	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132334384G>T	ENST00000509437.1	-	5	477	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.S135Y|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509008.1_3'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	157	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ggaggaggaagaggttgtgga	0.488																																						ENST00000324170.3																			0				skin(1)	1						c.(403-405)tCt>tAt		zinc finger, CCHC domain containing 10							96	100	99					5																	132334384		2203	4299	6502	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132334384G>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.470C>A	5.37:g.132334384G>T	ENSP00000423276:p.Ser157Tyr					ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.S157Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR	p.S135Y	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	470	-			157			Ser-rich.		Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.404C>A		.	.	.	.	.	.	.	.	.	.	G	11.00	1.511396	0.27036	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848	.	.	.	4.82	2.98	0.34508	.	0.521196	0.19466	N	0.113573	T	0.63510	0.2517	.	.	.	0.80722	D	1	P;P;P	0.47191	0.729;0.826;0.891	B;B;P	0.47705	0.431;0.365;0.555	T	0.68002	-0.5524	8	0.87932	D	0	.	14.731	0.69383	0.0:0.276:0.724:0.0	.	121;157;135	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	Y	135;151;157;121	.	ENSP00000324274:S135Y	S	-	2	0	ZCCHC10	132362283	1.000000	0.71417	0.435000	0.26784	0.442000	0.32017	6.371000	0.73119	0.534000	0.28695	-0.300000	0.09419	TCT		0.488	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		11	287	1	0	1.58986e-06	1	1.64048e-06	11	287					T	132334384	G	T	132334384	3	4	79	1	0	0	0	0	1	0	0	0	17632	942	33	3	112	3	ZCCHC10	5	132334384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136763	132334384	48580876	6462	16779											
VDAC1	7416	broad.mit.edu	37	chr5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtattccatttctctgTaaacgtcaggccgtactcag	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	72					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(214-216)Aca>Gca		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						212	191	198					5																	133326749		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326749T>C		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.214A>G	5.37:g.133326749T>C	ENSP00000265333:p.Thr72Ala					VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A	p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	458	-			72					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.214A>G	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303855	0.81136	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.91	5.91	0.95273	.	0.044704	0.85682	D	0.000000	T	0.65133	0.2662	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.37015	0.239	T	0.67760	-0.5587	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	72	P21796	VDAC1_HUMAN	A	72	ENSP00000265333:T72A;ENSP00000378484:T72A;ENSP00000378487:T72A;ENSP00000390129:T72A	ENSP00000265333:T72A	T	-	1	0	VDAC1	133354648	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.970000	0.88000	2.254000	0.74563	0.533000	0.62120	ACA		0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			176	711	0	0	0	1	0	176	711					C	133326749	T	C	133326749	3	2	79	1	0	0	0	0	1	0	0	0	17200	1638	57	4	661	4	VDAC1	5	133326749	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	992365	133326749	47588511	6463	16780											
TCF7	6932	broad.mit.edu	37	chr5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccccaactctctctctacGaacatttcaacagcccacat	2	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000321584.4	+	4	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	164					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E164K(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592																																						ENST00000395029.1																			2	Substitution - Missense(2)	p.E164K(2)	large_intestine(2)	kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(490-492)Gaa>Aaa		transcription factor 7 (T-cell specific, HMG-box)							128	119	122					5																	133473798		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473798G>A	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.490G>A	5.37:g.133473798G>A	ENSP00000326540:p.Glu164Lys					TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000321584.4_Missense_Mutation_p.E164K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K	p.E164K			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	685	+		Breast(839;0.058)	164					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.490G>A		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653312	0.67472	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037	D;D;D;D;D;D;D;D;D;D;T	0.99282	-5.68;-5.65;-5.66;-5.67;-5.67;-5.59;-5.61;-5.64;-5.6;-5.64;0.7	4.52	4.52	0.55395	CTNNB1 binding, N-teminal (1);	0.313405	0.29280	N	0.012602	D	0.99214	0.9727	M	0.77616	2.38	0.42677	D	0.993534	P;D;D;B	0.76494	0.607;0.991;0.999;0.33	B;P;P;B	0.62740	0.086;0.689;0.906;0.049	D	0.99136	1.0854	10	0.87932	D	0	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	164;164;164;164	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	K	164;164;164;164;164;164;49;49;49;49;49;49;49;49;49;24	ENSP00000340347:E164K;ENSP00000326654:E164K;ENSP00000326540:E164K;ENSP00000367827:E164K;ENSP00000378472:E164K;ENSP00000367822:E49K;ENSP00000397946:E49K;ENSP00000429547:E49K;ENSP00000430179:E49K;ENSP00000378469:E49K;ENSP00000429696:E24K	ENSP00000326540:E164K	E	+	1	0	TCF7	133501697	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.586000	0.67503	2.346000	0.79739	0.557000	0.71058	GAA		0.592	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		85	435	0	0	0	1	0	85	435					A	133473798	G	A	133473798	3	1	79	1	0	0	0	0	1	0	0	0	15748	1059	37	1	504	1	TCF7	5	133473798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147049	133473798	47441462	6464	16781											
SKP1	6500	broad.mit.edu	37	chr5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcatcatcttcaggaGgaggagggtcatccttgtgg	13	8	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443																																						ENST00000353411.6																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(211-213)cCt>cTt		S-phase kinase-associated protein 1							98	85	90					5																	133496781		2203	4300	6503	SO:0001583	missense	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133496781G>A	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"S-phase kinase-associated protein 1A (p19A)"	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.212C>T	5.37:g.133496781G>A	ENSP00000231487:p.Pro71Leu					SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L	p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	395	-			71					D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	c.212C>T	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297649	0.60086	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47177	0.88;0.87;0.87;0.88;0.88;0.87;0.88;0.85	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.50735	0.1633	M	0.67569	2.06	0.80722	D	1	B;B;B	0.22414	0.009;0.069;0.008	B;B;B	0.22386	0.013;0.039;0.008	T	0.52109	-0.8619	10	0.52906	T	0.07	-1.6096	18.6017	0.91249	0.0:0.0:1.0:0.0	.	71;71;71	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	L	71	ENSP00000231487:P71L;ENSP00000429472:P71L;ENSP00000431067:P71L;ENSP00000429961:P71L;ENSP00000429686:P71L;ENSP00000331708:P71L;ENSP00000429415:P71L;ENSP00000429996:P71L	ENSP00000331708:P71L	P	-	2	0	SKP1	133524680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.130000	0.94437	2.444000	0.82710	0.655000	0.94253	CCT		0.443	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		34	144	0	0	0	1	0	34	144					A	133496781	G	A	133496781	3	1	79	1	0	0	0	0	1	0	0	0	14411	1000	35	2	318	2	SKP1	5	133496781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22983	133496781	47418479	6465	16782											
CDKL3	51265	broad.mit.edu	37	chr5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttcctgcagtaatttaGctttcagttctggcatgaat	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000265334.4	-	8	1020	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521118.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	301					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAATTTAGCTTTCAGTTC	0.308																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(901-903)gCt>gTt		cyclin-dependent kinase-like 3							39	37	37					5																	133644398		1824	4076	5900	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133644398G>A	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.902C>T	5.37:g.133644398G>A	ENSP00000265334:p.Ala301Val					CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000265334.4_Missense_Mutation_p.A301V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V	p.A301V			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1016	-			301					D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.902C>T	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002233	0.54254	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74315	0.24;0.19;-0.78;-0.61;-0.83;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.78329	0.4266	L	0.32530	0.975	0.29057	N	0.884161	D;D;D;D;P	0.89917	0.986;1.0;0.999;0.978;0.877	P;D;D;P;B	0.72338	0.797;0.977;0.974;0.651;0.395	T	0.72795	-0.4185	10	0.38643	T	0.18	-23.5142	12.9356	0.58311	0.0:0.1628:0.8372:0.0	.	112;6;6;112;301	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	V	6;6;301;112;301;301;301	ENSP00000441545:A6V;ENSP00000399807:A6V;ENSP00000265334:A301V;ENSP00000428500:A112V;ENSP00000428689:A301V;ENSP00000430496:A301V;ENSP00000395559:A301V	ENSP00000265334:A301V	A	-	2	0	CDKL3	133672297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.454000	0.52986	2.676000	0.91093	0.555000	0.69702	GCT		0.308	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		11	97	0	0	0	1	0	11	97					A	133644398	G	A	133644398	3	1	79	1	0	0	0	0	1	0	0	0	3164	971	34	2	904	2	CDKL3	5	133644398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147617	133644398	47270862	6466	16783											
PHF15	23338	broad.mit.edu	37	chr5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgggcatcgagtacgacGaggatgttgtctgcgacgtg	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(592-594)Gag>Aag									220	169	186					5																	133896555		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133896555G>A																												ENST00000402835.1:c.592G>A	5.37:g.133896555G>A	ENSP00000384671:p.Glu198Lys					PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K	p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	771	+			198						Missense_Mutation	SNP	ENST00000402835.1	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			46	273	0	0	0	1	0	46	273					A	133896555	G	A	133896555	3	1	79	1	0	0	0	0	1	0	0	0	11868	1059	37	1	610	1	PHF15	5	133896555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252157	133896555	47018705	6467	16784											
SAR1B	51128	broad.mit.edu	37	chr5	133944084	133944084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttgtctgaccatatAaaccaaacatctctcgcaac	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	ENST00000402673.2	-	6	736	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	153					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACCATATAAACCAAACAT	0.353																																						ENST00000402673.2																			0				kidney(2)|lung(2)|urinary_tract(1)	5						c.(457-459)tTa>tCa		SAR1 homolog B (S. cerevisiae)							99	84	89					5																	133944084		2201	4299	6500	SO:0001583	missense	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133944084A>G	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.458T>C	5.37:g.133944084A>G	ENSP00000385432:p.Leu153Ser					SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S	p.L153S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	736	-			153					D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	c.458T>C	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710077	0.89018	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.56	5.56	0.83823	.	0.071028	0.64402	D	0.000012	D	0.90480	0.7018	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94115	0.7374	10	0.87932	D	0	-9.0065	16.021	0.80493	1.0:0.0:0.0:0.0	.	153	Q9Y6B6	SAR1B_HUMAN	S	85;153;85;85;153;85;85;153	ENSP00000385432:L153S;ENSP00000425339:L85S;ENSP00000426335:L85S;ENSP00000404997:L153S;ENSP00000424673:L85S;ENSP00000423197:L85S;ENSP00000425466:L153S	ENSP00000378443:L85S	L	-	2	0	SAR1B	133971983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.240000	0.73641	0.533000	0.62120	TTA		0.353	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		12	37	0	0	0	1	0	12	37					G	133944084	A	G	133944084	3	3	79	1	0	0	0	0	1	0	0	0	13890	372	13	4	146	4	SAR1B	5	133944084	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47529	133944084	46971176	6468	16785											
SAR1B	51128	broad.mit.edu	37	chr5	133948441	133948441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagcaatggtcagttcttCggaagctaaataagatttta	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133948441C>T	ENST00000402673.2	-	4	462	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K|SAR1B_ENST00000502539.1_5'UTR	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	62					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAGTTCTTCGGAAGCTAAA	0.289																																						ENST00000402673.2																			0				kidney(2)|lung(2)|urinary_tract(1)	5						c.(184-186)Gaa>Aaa		SAR1 homolog B (S. cerevisiae)							62	70	67					5																	133948441		2202	4299	6501	SO:0001583	missense	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133948441C>T	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.184G>A	5.37:g.133948441C>T	ENSP00000385432:p.Glu62Lys					SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000502539.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K	p.E62K	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	462	-			62					D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	c.184G>A	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704646	0.96812	.	.	ENSG00000152700	ENST00000402673;ENST00000439578;ENST00000505758;ENST00000502286	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.044789	0.85682	D	0.000000	T	0.76263	0.3963	M	0.85777	2.775	0.80722	D	1	P	0.52692	0.955	P	0.45071	0.468	T	0.80607	-0.1307	10	0.66056	D	0.02	-15.0388	20.3932	0.98965	0.0:1.0:0.0:0.0	.	62	Q9Y6B6	SAR1B_HUMAN	K	62	ENSP00000385432:E62K;ENSP00000404997:E62K;ENSP00000425466:E62K;ENSP00000423005:E62K	ENSP00000385432:E62K	E	-	1	0	SAR1B	133976340	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.805000	0.86005	2.824000	0.97209	0.655000	0.94253	GAA		0.289	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		9	530	0	0	0	1	0	9	530					T	133948441	C	T	133948441	3	4	79	1	0	0	0	0	1	0	0	0	13890	893	31	1	428	1	SAR1B	5	133948441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4357	133948441	46966819	6469	16786											
SEC24A	10802	broad.mit.edu	37	chr5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccacagcctcacaaacaAaccattgtcctcgtgcatca	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	150	Pro-rich.				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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACAAACAAACCATTGTCC	0.408																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(448-450)Aac>Tac		SEC24 family member A							118	117	117					5																	133997159		1991	4165	6156	SO:0001583	missense	10802				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	zinc ion binding	g.chr5:133997159A>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.448A>T	5.37:g.133997159A>T	ENSP00000381823:p.Asn150Tyr					SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	736	+			150			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.448A>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642853	0.47153	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.77	4.61	0.57282	.	0.312847	0.35615	N	0.003091	D	0.95771	0.8624	L	0.59436	1.845	0.27270	N	0.958396	D	0.56521	0.976	P	0.51016	0.656	D	0.89294	0.3621	10	0.06757	T	0.87	-5.5629	11.8303	0.52290	0.9314:0.0:0.0686:0.0	.	150	O95486	SC24A_HUMAN	Y	150	ENSP00000381823:N150Y;ENSP00000321749:N150Y	ENSP00000321749:N150Y	N	+	1	0	SEC24A	134025058	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.422000	0.59854	1.002000	0.39104	0.533000	0.62120	AAC		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			22	436	0	0	0	1	0	22	436					T	133997159	A	T	133997159	3	4	79	1	0	0	0	0	1	0	0	0	14044	14	1	5	454	5	SEC24A	5	133997159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48718	133997159	46918101	6470	16787											
SEC24A	10802	broad.mit.edu	37	chr5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctcagtggacagtaTtctgatttggcttctctggg	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	696					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGACAGTATTCTGATTTGG	0.348																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2086-2088)taT>taG		SEC24 family member A							213	196	202					5																	134032917		1863	4094	5957	SO:0001587	stop_gained	10802				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	zinc ion binding	g.chr5:134032917T>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2088T>G	5.37:g.134032917T>G	ENSP00000381823:p.Tyr696*						p.Y696*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2376	+			696					A8MVW3|Q8WUV2|Q96GP7	Nonsense_Mutation	SNP	ENST00000398844.2	37	c.2088T>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	41	8.638871	0.98895	.	.	ENSG00000113615	ENST00000398844	.	.	.	5.59	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1559	8.6221	0.33866	0.0:0.365:0.0:0.635	.	.	.	.	X	696	.	ENSP00000381823:Y696X	Y	+	3	2	SEC24A	134060816	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.795000	0.38784	0.390000	0.25115	0.460000	0.39030	TAT		0.348	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			128	562	0	0	0	1	0	128	562					G	134032917	T	G	134032917	4	3	79	1	0	0	0	0	0	1	0	0	14044	1500	52	4	2142	4	SEC24A	5	134032917	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35758	134032917	46882343	6471	16788											
SEC24A	10802	broad.mit.edu	37	chr5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtctttgcctaacgtcaAcccagacgctgggtatgcag	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	RNU6-1164P_ENST00000364428.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	780					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAACGTCAACCCAGACGCT	0.408																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2338-2340)aAc>aGc		SEC24 family member A							112	105	107					5																	134039521		1866	4100	5966	SO:0001583	missense	10802				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	zinc ion binding	g.chr5:134039521A>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2339A>G	5.37:g.134039521A>G	ENSP00000381823:p.Asn780Ser						p.N780S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2627	+			780					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2339A>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532589	0.64972	.	.	ENSG00000113615	ENST00000398844	T	0.21543	2.0	5.59	4.43	0.53597	Sec23/Sec24 beta-sandwich (1);	0.040458	0.85682	N	0.000000	T	0.28499	0.0705	L	0.33339	1.005	0.80722	D	1	D;D	0.54601	0.967;0.962	P;P	0.56960	0.649;0.81	T	0.01578	-1.1320	10	0.56958	D	0.05	-7.6536	11.6259	0.51145	0.9302:0.0:0.0698:0.0	.	544;780	B4E205;O95486	.;SC24A_HUMAN	S	780	ENSP00000381823:N780S	ENSP00000381823:N780S	N	+	2	0	SEC24A	134067420	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.321000	0.72881	0.957000	0.37930	-0.489000	0.04712	AAC		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			27	284	0	0	0	1	0	27	284					G	134039521	A	G	134039521	3	3	79	1	0	0	0	0	1	0	0	0	14044	43	2	4	2401	4	SEC24A	5	134039521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6604	134039521	46875739	6472	16789											
DDX46	9879	broad.mit.edu	37	chr5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttttcttttagactgCtaggtggaaagttacctcta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000354283.4	+	21	2969	c.2834C>T	c.(2833-2835)gCt>gTt	p.A945V	DDX46_ENST00000452510.2_Missense_Mutation_p.A946V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	945					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTAGACTGCTAGGTGGAAA	0.403																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2836-2838)gCt>gTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							77	75	76					5																	134154554		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134154554C>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2834C>T	5.37:g.134154554C>T	ENSP00000346236:p.Ala945Val					DDX46_ENST00000354283.4_Missense_Mutation_p.A945V	p.A946V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		21	2995	+			945					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2837C>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858916	0.71834	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.6;1.6	5.71	5.71	0.89125	.	0.537909	0.22272	N	0.062243	T	0.33731	0.0873	L	0.38838	1.175	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.07214	-1.0784	10	0.48119	T	0.1	1.6371	19.8505	0.96738	0.0:1.0:0.0:0.0	.	945	Q7L014	DDX46_HUMAN	V	946;945	ENSP00000416534:A946V;ENSP00000346236:A945V	ENSP00000346236:A945V	A	+	2	0	DDX46	134182453	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.764000	0.85297	2.688000	0.91661	0.655000	0.94253	GCT		0.403	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		40	170	0	0	0	1	0	40	170					T	134154554	C	T	134154554	3	4	79	1	0	0	0	0	1	0	0	0	4375	797	28	2	2916	2	DDX46	5	134154554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115033	134154554	46760706	6473	16790											
DDX46	9879	broad.mit.edu	37	chr5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaattacaatcagaggaAcctacttccctcctggcaaa	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000354283.4	+	21	3046	c.2911A>G	c.(2911-2913)Acc>Gcc	p.T971A	DDX46_ENST00000452510.2_Missense_Mutation_p.T972A			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	971					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCAGAGGAACCTACTTCCC	0.418																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2914-2916)Acc>Gcc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							98	96	96					5																	134154631		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134154631A>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2911A>G	5.37:g.134154631A>G	ENSP00000346236:p.Thr971Ala					DDX46_ENST00000354283.4_Missense_Mutation_p.T971A	p.T972A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		21	3072	+			971					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2914A>G	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714081	0.68730	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26660	1.72;1.72	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.72353	2.195	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.21348	-1.0248	10	0.62326	D	0.03	-14.7115	15.9781	0.80086	1.0:0.0:0.0:0.0	.	971	Q7L014	DDX46_HUMAN	A	972;971	ENSP00000416534:T972A;ENSP00000346236:T971A	ENSP00000346236:T971A	T	+	1	0	DDX46	134182530	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.264000	0.78432	2.171000	0.68590	0.533000	0.62120	ACC		0.418	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		68	228	0	0	0	1	0	68	228					G	134154631	A	G	134154631	3	3	79	1	0	0	0	0	1	0	0	0	4375	43	2	4	2993	4	DDX46	5	134154631	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77	134154631	46760629	6474	16791											
CATSPER3	347732	broad.mit.edu	37	chr5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgagccgggcattcaCcatcatcttcatcttgctcg	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	248					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(742-744)aCc>aTc		cation channel, sperm associated 3							277	236	250					5																	134344598		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134344598C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.743C>T	5.37:g.134344598C>T	ENSP00000282611:p.Thr248Ile						p.T248I	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	829	+			248					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.743C>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000152705	ENST00000282611	D	0.98345	-4.88	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.56097	D	0.000031	D	0.98118	0.9379	L	0.38175	1.15	0.41201	D	0.986372	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	10	0.59425	D	0.04	-43.0996	16.38	0.83452	0.0:1.0:0.0:0.0	.	248	Q86XQ3	CTSR3_HUMAN	I	248	ENSP00000282611:T248I	ENSP00000282611:T248I	T	+	2	0	CATSPER3	134372497	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.677000	0.91161	0.563000	0.77884	ACC		0.537	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		39	346	0	0	0	1	0	39	346					T	134344598	C	T	134344598	3	4	79	1	0	0	0	0	1	0	0	0	2696	507	18	2	761	2	CATSPER3	5	134344598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189967	134344598	46570662	6475	16792											
H2AFY	9555	broad.mit.edu	37	chr5	134686592	134686592	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggcaatgtcagcctgTacaacttgcaactataacag	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134686592T>C	ENST00000511689.1	-	6	1282				H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000312469.4_Silent_p.V200V|CTC-349C3.1_ENST00000554670.1_3'UTR|H2AFY_ENST00000512507.1_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCAGCCTGTACAACTTGCA	0.502																																						ENST00000312469.4																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(598-600)gtA>gtG		H2A histone family, member Y							133	90	105					5																	134686592		2203	4300	6503	SO:0001627	intron_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134686592T>C	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.688+2043A>G	5.37:g.134686592T>C						H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_Intron|CTC-203F4.1_ENST00000555438.1_Intron|CTC-203F4.1_ENST00000554670.1_Silent_p.C4C	p.V200V	NM_138609.2	NP_613075.1	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	782	-			200			Macro.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.600A>G	CCDS4185.1																																																																																				0.502	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		5	111	0	0	0	1	0	5	111					C	134686592	T	C	134686592	1	2	79	0	1	0	0	0	0	0	0	0	6959	1625	57	4		4	H2AFY	5	134686592	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341994	134686592	46228668	6476	16793											
H2AFY	9555	broad.mit.edu	37	chr5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgtgccctcggttgtgCtgtcggcgctggctgcctta	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000511689.1	-	5	1111	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	173					chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCGGTTGTGCTGTCGGCGCT	0.587																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(517-519)aGc>aTc		H2A histone family, member Y							109	94	99					5																	134696257		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134696257C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.518G>T	5.37:g.134696257C>A	ENSP00000423563:p.Ser173Ile					H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_5'UTR	p.S173I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1111	-			173					O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.518G>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787136	0.90367	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.26373	1.78;1.74;1.83;1.78	5.84	5.84	0.93424	.	0.075115	0.85682	D	0.000000	T	0.52208	0.1720	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.987	P;D;P	0.85130	0.808;0.997;0.648	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	172;173;173	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	I	173;172;173;173	ENSP00000423563:S173I;ENSP00000302572:S172I;ENSP00000310169:S173I;ENSP00000424971:S173I	ENSP00000302572:S172I	S	-	2	0	H2AFY	134724156	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.543000	0.67225	2.760000	0.94817	0.655000	0.94253	AGC		0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		22	346	1	0	2.21704e-12	1	2.37967e-12	22	346					A	134696257	C	A	134696257	3	1	79	1	0	0	0	0	1	0	0	0	6959	797	28	3	715	3	H2AFY	5	134696257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9665	134696257	46219003	6477	16794											
NEUROG1	4762	broad.mit.edu	37	chr5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcatgcggttgcgctCgcgatcgttggccttgacgc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	101	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706																																						ENST00000314744.4																			0				endometrium(1)|liver(1)	2						c.(301-303)Gag>Aag		neurogenin 1							34	35	34					5																	134871080		2203	4299	6502	SO:0001583	missense	4762				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr5:134871080C>T	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.301G>A	5.37:g.134871080C>T	ENSP00000317580:p.Glu101Lys						p.E101K	NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	559	-			101					Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	c.301G>A	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156516	0.94686	.	.	ENSG00000181965	ENST00000314744	D	0.99730	-6.56	4.71	4.71	0.59529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97390	3.995	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	D	0.96672	0.9497	10	0.66056	D	0.02	-23.8708	17.6476	0.88153	0.0:1.0:0.0:0.0	.	101	Q92886	NGN1_HUMAN	K	101	ENSP00000317580:E101K	ENSP00000317580:E101K	E	-	1	0	NEUROG1	134898979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.696000	0.84270	2.158000	0.67659	0.651000	0.88453	GAG		0.706	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		19	83	0	0	0	1	0	19	83					T	134871080	C	T	134871080	3	4	79	1	0	0	0	0	1	0	0	0	10394	893	31	1	416	1	NEUROG1	5	134871080	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174823	134871080	46044180	6478	16795											
IL9	3578	broad.mit.edu	37	chr5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggcctgccacggagcAcaggagcagggcagaggtaa	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	14					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGAGCACAGGAGCAGG	0.577																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.(40-42)Tgc>Cgc		interleukin 9							57	62	61					5																	135231466		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231466A>G	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.40T>C	5.37:g.135231466A>G	ENSP00000274520:p.Cys14Arg						p.C14R	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	50	-			14						Missense_Mutation	SNP	ENST00000274520.1	37	c.40T>C	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617588	0.46736	.	.	ENSG00000145839	ENST00000274520	T	0.45668	0.89	4.37	-1.44	0.08856	.	0.570981	0.14837	N	0.295519	T	0.36331	0.0963	L	0.46157	1.445	0.09310	N	0.999999	D	0.54964	0.969	P	0.49276	0.605	T	0.23368	-1.0190	10	0.59425	D	0.04	-1.8883	4.569	0.12200	0.3378:0.3355:0.0:0.3268	.	14	P15248	IL9_HUMAN	R	14	ENSP00000274520:C14R	ENSP00000274520:C14R	C	-	1	0	IL9	135259365	0.010000	0.17322	0.032000	0.17829	0.051000	0.14879	-0.075000	0.11431	-0.025000	0.13918	0.533000	0.62120	TGC		0.577	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		70	350	0	0	0	1	0	70	350					G	135231466	A	G	135231466	3	3	79	1	0	0	0	0	1	0	0	0	7737	159	6	4	414	4	IL9	5	135231466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360386	135231466	45683794	6479	16796											
LECT2	3950	broad.mit.edu	37	chr5	135287026	135287026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagatccagcagagcacaAgatgtccacaccctggtgag	11	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	LECT2_ENST00000514447.2_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000512872.1_5'UTR|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	59					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGAGCACAAGATGTCCACA	0.473																																						ENST00000274507.1																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(175-177)Ttg>Ctg		leukocyte cell-derived chemotaxin 2							126	111	116					5																	135287026		2203	4300	6503	SO:0001819	synonymous_variant	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135287026A>G	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.175T>C	5.37:g.135287026A>G						LECT2_ENST00000512872.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Silent_p.L59L	p.L59L	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	375	-			59					B2RA90|O14565|Q52M49	Silent	SNP	ENST00000274507.1	37	c.175T>C	CCDS4190.1																																																																																				0.473	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		55	230	0	0	0	1	0	55	230					G	135287026	A	G	135287026	2	3	79	1	0	0	0	0	0	0	0	1	8744	69	3	4		4	LECT2	5	135287026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55560	135287026	45628234	6480	16797											
TGFBI	7045	broad.mit.edu	37	chr5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtcatctccaccatcAccaacaacatccagcagatc	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	240	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(718-720)Acc>Gcc		transforming growth factor, beta-induced, 68kDa							239	235	236					5																	135383056		2134	4237	6371	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383056A>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.718A>G	5.37:g.135383056A>G	ENSP00000416330:p.Thr240Ala					TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	879	+			240			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.718A>G	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236619|2.236619	0.39498|0.39498	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000305126	.|D;D	.|0.91464	.|-2.85;-2.85	6.0|6.0	2.16|2.16	0.27623|0.27623	.|FAS1 domain (2);	.|0.346314	.|0.36268	.|N	.|0.002698	D|D	0.85652|0.85652	0.5746|0.5746	L|L	0.55481|0.55481	1.735|1.735	0.47037|0.47037	D|D	0.999293|0.999293	.|B	.|0.29481	.|0.245	.|B	.|0.25614	.|0.062	T|T	0.76710|0.76710	-0.2859|-0.2859	5|10	.|0.22109	.|T	.|0.4	-6.952|-6.952	11.3332|11.3332	0.49487|0.49487	0.6357:0.0:0.0:0.3643|0.6357:0.0:0.0:0.3643	.|.	.|240	.|Q15582	.|BGH3_HUMAN	R|A	15|240	.|ENSP00000416330:T240A;ENSP00000306306:T240A	.|ENSP00000306306:T240A	H|T	+|+	2|1	0|0	TGFBI|TGFBI	135410955|135410955	0.003000|0.003000	0.15002|0.15002	0.775000|0.775000	0.31657|0.31657	0.891000|0.891000	0.51852|0.51852	1.730000|1.730000	0.38125|0.38125	0.129000|0.129000	0.18514|0.18514	0.454000|0.454000	0.30748|0.30748	CAC|ACC		0.562	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			207	911	0	0	0	1	0	207	911					G	135383056	A	G	135383056	3	3	79	1	0	0	0	0	1	0	0	0	15872	159	6	4	740	4	TGFBI	5	135383056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96030	135383056	45532204	6481	16798											
TRPC7	57113	broad.mit.edu	37	chr5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcgcgtagagcccttccGatatgatctgagggtctgaa	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					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)			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)			GAGCCCTTCCGATATGATCTG	0.522																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1618-1620)tCg>tTg		transient receptor potential cation channel, subfamily C, member 7							79	80	80					5																	135583384		1947	4145	6092	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583384G>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.1619C>T	5.37:g.135583384G>A	ENSP00000426070:p.Ser540Leu					TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	p.S540L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1901	-			540					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1619C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.299253	0.95574	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80994	-1.26;-1.44;-1.3	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	M	0.91717	3.235	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.752;1.0;1.0	D;B;D;D	0.85130	0.992;0.423;0.997;0.995	D	0.93047	0.6462	10	0.87932	D	0	-8.1392	19.9142	0.97043	0.0:0.0:1.0:0.0	.	424;479;485;540	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	479;424;540;540	ENSP00000347312:S479L;ENSP00000441628:S424L;ENSP00000426070:S540L	ENSP00000265193:S540L	S	-	2	0	TRPC7	135611283	1.000000	0.71417	0.927000	0.36925	0.891000	0.51852	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCG		0.522	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		77	310	0	0	0	1	0	77	310					A	135583384	G	A	135583384	3	1	79	1	0	0	0	0	1	0	0	0	16637	1059	37	1	993	1	TRPC7	5	135583384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200328	135583384	45331876	6482	16799											
TRPC7	57113	broad.mit.edu	37	chr5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggatgttgccatactcagCcgagtccaggaagcgctcct	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					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)			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)			CCATACTCAGCCGAGTCCAGG	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(151-153)Gct>Act		transient receptor potential cation channel, subfamily C, member 7							96	108	104					5																	135692925		2141	4264	6405	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692925C>T	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.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr					TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	433	-			51					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.151G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		145	726	0	0	0	1	0	145	726					T	135692925	C	T	135692925	3	4	79	1	0	0	0	0	1	0	0	0	16637	739	26	2	2481	2	TRPC7	5	135692925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109541	135692925	45222335	6483	16800											
SPOCK1	6695	broad.mit.edu	37	chr5	136314408	136314408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcatcctctgtcacggCtcgggtgtgcaccctcagct	9	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:136314408C>T	ENST00000394945.1	-	11	1424	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTCACGGCTCGGGTGTGC	0.522																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(1255-1257)Gcc>Acc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							245	197	213					5																	136314408		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136314408C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1255G>A	5.37:g.136314408C>T	ENSP00000378401:p.Ala419Thr					SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1424	-			419					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.1255G>A	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104973	0.77096	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.44083	0.93;0.93	5.16	5.16	0.70880	.	0.066495	0.64402	D	0.000008	T	0.44159	0.1280	L	0.51422	1.61	0.43868	D	0.996476	P	0.47409	0.895	P	0.44518	0.452	T	0.49263	-0.8958	10	0.87932	D	0	.	15.8164	0.78604	0.0:1.0:0.0:0.0	.	419	Q08629	TICN1_HUMAN	T	419	ENSP00000378401:A419T;ENSP00000282223:A419T	ENSP00000282223:A419T	A	-	1	0	SPOCK1	136342307	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.045000	0.64220	2.395000	0.81488	0.557000	0.71058	GCC		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		14	755	0	0	0	1	0	14	755					T	136314408	C	T	136314408	3	4	79	1	0	0	0	0	1	0	0	0	15131	797	28	2	68	2	SPOCK1	5	136314408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	621483	136314408	44600852	6484	16801											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaagccgaatccacgcttCttgccggactgcttgtcggc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	137	RRM 2. {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)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(409-411)aaG>aaT		heterogeneous nuclear ribonucleoprotein A0							66	64	64					5																	137089345		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089345C>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.411G>T	5.37:g.137089345C>A	ENSP00000316042:p.Lys137Asn						p.K137N	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	694	-			137			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.411G>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339057	0.81911	.	.	ENSG00000177733	ENST00000314940	D	0.93712	-3.27	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.95695	0.8600	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95970	0.8969	10	0.87932	D	0	.	13.6089	0.62063	0.0:0.9223:0.0:0.0777	.	137	Q13151	ROA0_HUMAN	N	137	ENSP00000316042:K137N	ENSP00000316042:K137N	K	-	3	2	HNRNPA0	137117244	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.201000	0.51059	2.317000	0.78254	0.305000	0.20034	AAG		0.577	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		83	276	1	0	1.3466e-33	1	1.59697e-33	83	276					A	137089345	C	A	137089345	3	1	79	1	0	0	0	0	1	0	0	0	7286	912	32	3	510	3	HNRNPA0	5	137089345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	774937	137089345	43825915	6485	16802											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaccgcccgcttcagctCcacagtgttgccgtccacgg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	78	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)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(232-234)Gag>Aag		heterogeneous nuclear ribonucleoprotein A0							46	50	49					5																	137089524		2201	4298	6499	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089524C>T	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.232G>A	5.37:g.137089524C>T	ENSP00000316042:p.Glu78Lys						p.E78K	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	515	-			78			RRM 1.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.232G>A	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323860	0.95708	.	.	ENSG00000177733	ENST00000314940	D	0.91894	-2.93	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.94705	0.7887	10	0.87932	D	0	.	14.475	0.67539	0.1482:0.8517:0.0:0.0	.	78	Q13151	ROA0_HUMAN	K	78	ENSP00000316042:E78K	ENSP00000316042:E78K	E	-	1	0	HNRNPA0	137117423	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.027000	0.70881	1.036000	0.39998	0.305000	0.20034	GAG		0.652	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		19	526	0	0	0	1	0	19	526					T	137089524	C	T	137089524	3	4	79	1	0	0	0	0	1	0	0	0	7286	864	30	2	689	2	HNRNPA0	5	137089524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	137089524	43825736	6486	16803											
MYOT	9499	broad.mit.edu	37	chr5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatagtgtctgagaaggGtcttcattcactcatctttg	9	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000239926.4	+	7	1285	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	304	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGAGAAGGGTCTTCATTCA	0.448																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(910-912)gGt>gAt		myotilin							128	120	123					5																	137219167		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219167G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.911G>A	5.37:g.137219167G>A	ENSP00000239926:p.Gly304Asp					RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000509812.1_Intron	p.G304D	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1285	+			304			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.911G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203947	0.95033	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80565	0.4647	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81899	-0.0721	10	0.62326	D	0.03	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	304	Q9UBF9	MYOTI_HUMAN	D	304;120;189	ENSP00000239926:G304D;ENSP00000391185:G120D;ENSP00000426281:G189D	ENSP00000239926:G304D	G	+	2	0	MYOT	137247066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GGT		0.448	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		90	392	0	0	0	1	0	90	392					A	137219167	G	A	137219167	3	1	79	1	0	0	0	0	1	0	0	0	10135	1261	44	2	933	2	MYOT	5	137219167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129643	137219167	43696093	6487	16804											
PKD2L2	27039	broad.mit.edu	37	chr5	137243502	137243502	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttacttggacagctgttGaaaagtactgaaaaatattc	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508883.1	+	7	1073	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000508638.1_Silent_p.L349L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000502810.1_Silent_p.L327L			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	349					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1045-1047)ttG>ttA		polycystic kidney disease 2-like 2							106	92	97					5																	137243502		1788	4068	5856	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137243502G>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1047G>A	5.37:g.137243502G>A						PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000508883.1_Silent_p.L349L	p.L349L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1102	+			349					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.1047G>A																																																																																					0.299	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		24	102	0	0	0	1	0	24	102					A	137243502	G	A	137243502	2	1	79	1	0	0	0	0	0	0	0	1	12010	1281	45	2		2	PKD2L2	5	137243502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24335	137243502	43671758	6488	16805											
PKD2L2	27039	broad.mit.edu	37	chr5	137261573	137261573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcaatagcaaaggcagCggagatttggctgaacaagc	11	8	1	2	rs201437170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508883.1	+	12	1652	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PKD2L2_ENST00000508638.1_Silent_p.S441S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000502810.1_Silent_p.S520S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	542					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAAGGCAGCGGAGATTTGG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		19398	0.001		0.0	False		,,,				2504	0.0					ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1321-1323)agC>agT		polycystic kidney disease 2-like 2							110	97	101					5																	137261573		1822	4077	5899	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137261573C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1626C>T	5.37:g.137261573C>T						PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000508883.1_Silent_p.S542S	p.S441S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1378	+			542					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.1323C>T																																																																																					0.348	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		14	146	0	0	0	1	0	14	146					T	137261573	C	T	137261573	2	4	79	1	0	0	0	0	0	0	0	1	12010	767	27	1		1	PKD2L2	5	137261573	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18071	137261573	43653687	6489	16806											
FAM13B	51306	broad.mit.edu	37	chr5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaactaaaggatgatcttcGaattctgaattaaaacaaaa	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1657-1659)Cga>Tga		family with sequence similarity 13, member B							115	111	112					5																	137289150		2203	4299	6502	SO:0001587	stop_gained	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137289150G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1657C>T	5.37:g.137289150G>A	ENSP00000033079:p.Arg553*					FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*	p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			15	2108	-			553					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	ENST00000033079.3	37	c.1657C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	FAM13B	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA		0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			90	337	0	0	0	1	0	90	337					A	137289150	G	A	137289150	4	1	79	1	0	0	0	0	0	1	0	0	5474	1066	37	1	1126	1	FAM13B	5	137289150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27577	137289150	43626110	6490	16807											
FAM13B	51306	broad.mit.edu	37	chr5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattgacttgaaaaagtcCttgttgctccagacctccta	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	59	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(175-177)Gga>Aga		family with sequence similarity 13, member B							127	118	121					5																	137354186		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137354186C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.175G>A	5.37:g.137354186C>T	ENSP00000033079:p.Gly59Arg					FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R|FAM13B_ENST00000425075.2_5'UTR	p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			4	626	-			59			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.175G>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452507	0.84209	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.91	5.91	0.95273	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.86755	0.1963	10	0.87932	D	0	-16.8533	20.2963	0.98556	0.0:1.0:0.0:0.0	.	59;59	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	R	59	ENSP00000033079:G59R;ENSP00000388521:G59R;ENSP00000425326:G59R;ENSP00000424785:G59R;ENSP00000422311:G59R;ENSP00000426863:G59R	ENSP00000033079:G59R	G	-	1	0	FAM13B	137382085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.813000	0.96785	0.655000	0.94253	GGA		0.423	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			29	452	0	0	0	1	0	29	452					T	137354186	C	T	137354186	3	4	79	1	0	0	0	0	1	0	0	0	5474	690	24	2	2722	2	FAM13B	5	137354186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65036	137354186	43561074	6491	16808											
WNT8A	7478	broad.mit.edu	37	chr5	137424615	137424615	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattctgtccttgtatataGgaggccatggctggatctgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424615G>A	ENST00000398754.1	+	5	372		c.e5-1		WNT8A_ENST00000506684.1_Splice_Site	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A						canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTGTATATAGGAGGCCATGG	0.527																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.e4-1		wingless-type MMTV integration site family, member 8A							71	78	76					5																	137424615		2129	4269	6398	SO:0001630	splice_region_variant	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424615G>A	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.368-1G>A	5.37:g.137424615G>A						WNT8A_ENST00000398754.1_Splice_Site				Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	657	+								Q96S51	Splice_Site	SNP	ENST00000398754.1	37		CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402597	0.83230	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNT8A	137452514	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.395000	0.97266	2.941000	0.99782	0.655000	0.94253	.		0.527	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	Intron	12	465	0	0	0	1	0	12	465					A	137424615	G	A	137424615	5	1	79	1	0	0	0	0	0	0	1	0	17450	1014	35	2	385	2	WNT8A	5	137424615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70429	137424615	43490645	6492	16809											
WNT8A	7478	broad.mit.edu	37	chr5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacaacagggccggcagaCtggtgggtataggcattgtg	15	8	0	1	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000398754.1	+	5	513	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	WNT8A_ENST00000506684.1_Missense_Mutation_p.L188M	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	170					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCGGCAGACTGGTGGGTAT	0.488																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(562-564)Ctg>Atg		wingless-type MMTV integration site family, member 8A							97	110	106					5																	137424756		2203	4300	6503	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424756C>A	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.508C>A	5.37:g.137424756C>A	ENSP00000381739:p.Leu170Met					WNT8A_ENST00000398754.1_Missense_Mutation_p.L170M	p.L188M			Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	798	+			170					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.562C>A	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891650	0.72524	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76316	-1.01;-1.01;-1.01	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.979;0.979;0.994	D;D;D	0.65140	0.913;0.913;0.932	D	0.84319	0.0515	10	0.52906	T	0.07	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs62383479	188;188;170	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	M	188;188;170	ENSP00000426653:L188M;ENSP00000424809:L188M;ENSP00000381739:L170M	ENSP00000354726:L170M	L	+	1	2	WNT8A	137452655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.547000	0.45786	2.941000	0.99782	0.655000	0.94253	CTG		0.488	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		120	514	1	0	1.49884e-55	1	1.87369e-55	120	514					A	137424756	C	A	137424756	3	1	79	1	0	0	0	0	1	0	0	0	17450	564	20	3	526	3	WNT8A	5	137424756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	137424756	43490504	6493	16810											
CDC23	8697	broad.mit.edu	37	chr5	137525388	137525388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtttgcacttaaaataGtactgggccagatagcgaaa	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	519					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1555-1557)taC>taT		cell division cycle 23							88	82	84					5																	137525388		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137525388G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1557C>T	5.37:g.137525388G>A							p.Y519Y	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1587	-			519					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.1557C>T	CCDS4200.2																																																																																				0.373	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			50	234	0	0	0	1	0	50	234					A	137525388	G	A	137525388	2	1	79	1	0	0	0	0	0	0	0	1	3070	1024	36	2		2	CDC23	5	137525388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100632	137525388	43389872	6494	16811											
CDC23	8697	broad.mit.edu	37	chr5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtactgggccagatagCgaaaggcagtgctttcctcc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1540-1542)cGc>cAc		cell division cycle 23							89	83	85					5																	137525404		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137525404C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1541G>A	5.37:g.137525404C>T	ENSP00000378350:p.Arg514His						p.R514H	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1571	-			514					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1541G>A	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000094880	ENST00000394886	T	0.37584	1.19	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.38531	1.155	0.80722	D	1	B	0.31241	0.315	B	0.21360	0.034	T	0.04551	-1.0943	10	0.21014	T	0.42	-8.2032	19.0709	0.93136	0.0:1.0:0.0:0.0	.	514	Q9UJX2	CDC23_HUMAN	H	514	ENSP00000378350:R514H	ENSP00000378350:R514H	R	-	2	0	CDC23	137553303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.745000	0.94114	0.462000	0.41574	CGC		0.388	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			45	245	0	0	0	1	0	45	245					T	137525404	C	T	137525404	3	4	79	1	0	0	0	0	1	0	0	0	3070	768	27	1	260	1	CDC23	5	137525404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	137525404	43389856	6495	16812											
GFRA3	2676	broad.mit.edu	37	chr5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcctcacagcagggttTtcattctgtggaagaaatgg	13	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	373					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(1117-1119)gaA>gaC		GDNF family receptor alpha 3							59	69	66					5																	137588741		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137588741T>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1119A>C	5.37:g.137588741T>G	ENSP00000274721:p.Glu373Asp					GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	p.E373D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	1365	-			373					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.1119A>C	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663249	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.52;0.93	5.34	1.24	0.21308	.	1.200820	0.05729	N	0.599266	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.20638	-1.0269	10	0.16420	T	0.52	0.7164	10.7655	0.46291	0.0:0.0:0.5013:0.4987	.	342;373	O60609-2;O60609	.;GFRA3_HUMAN	D	373;342	ENSP00000274721:E373D;ENSP00000367613:E342D	ENSP00000274721:E373D	E	-	3	2	GFRA3	137616640	0.012000	0.17670	0.002000	0.10522	0.140000	0.21249	-0.101000	0.10973	0.428000	0.26173	0.528000	0.53228	GAA		0.537	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		30	103	0	0	0	1	0	30	103					G	137588741	T	G	137588741	3	3	79	1	0	0	0	0	1	0	0	0	6378	1838	64	4	87	4	GFRA3	5	137588741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63337	137588741	43326519	6496	16813											
GFRA3	2676	broad.mit.edu	37	chr5	137593567	137593567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggagcacgcctccccGtaggccttgcgcagccggtc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(544-546)taC>taT		GDNF family receptor alpha 3							29	31	30					5																	137593567		2203	4300	6503	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593567G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.546C>T	5.37:g.137593567G>A						GFRA3_ENST00000378362.3_Silent_p.Y151Y	p.Y182Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	792	-			182					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.546C>T	CCDS4201.1																																																																																				0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		36	246	0	0	0	1	0	36	246					A	137593567	G	A	137593567	2	1	79	1	0	0	0	0	0	0	0	1	6378	1140	40	1		1	GFRA3	5	137593567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4826	137593567	43321693	6497	16814											
GFRA3	2676	broad.mit.edu	37	chr5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccaaggctgcgggcaCggtgaacggtccaatagatg	13	12	1	2	rs201874513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547													C|||	9	0.00179712	0.0	0.0	5008	,	,		20608	0.0089		0.0	False		,,,				2504	0.0					ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(364-366)cGt>cAt		GDNF family receptor alpha 3							79	72	74					5																	137599964		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137599964C>T	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.365G>A	5.37:g.137599964C>T	ENSP00000274721:p.Arg122His					GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	611	-			122					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.365G>A	CCDS4201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	GFRA3	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		53	342	0	0	0	1	0	53	342					T	137599964	C	T	137599964	3	4	79	1	0	0	0	0	1	0	0	0	6378	536	19	1	865	1	GFRA3	5	137599964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6397	137599964	43315296	6498	16815											
FAM53C	51307	broad.mit.edu	37	chr5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgcctcccctcaaaGtggctcctgggagagtgatg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	212										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCTCAAAGTGGCTCCTGG	0.627																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(634-636)aGt>aAt		family with sequence similarity 53, member C							139	157	151					5																	137681012		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681012G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.635G>A	5.37:g.137681012G>A	ENSP00000239906:p.Ser212Asn					FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N	p.S212N	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1063	+			212					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.635G>A	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.47177	0.85;0.85	5.55	4.68	0.58851	.	0.257713	0.45126	N	0.000392	T	0.65698	0.2716	M	0.72353	2.195	0.80722	D	1	D	0.54772	0.968	D	0.70487	0.969	T	0.66893	-0.5808	9	.	.	.	-1.3068	13.3265	0.60463	0.0768:0.0:0.9232:0.0	.	212	Q9NYF3	FA53C_HUMAN	N	212	ENSP00000403705:S212N;ENSP00000239906:S212N	.	S	+	2	0	FAM53C	137708911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	1.575000	0.49775	0.655000	0.94253	AGT		0.627	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		253	1236	0	0	0	1	0	253	1236					A	137681012	G	A	137681012	3	1	79	1	0	0	0	0	1	0	0	0	5606	1029	36	2	645	2	FAM53C	5	137681012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81048	137681012	43234248	6499	16816											
FAM53C	51307	broad.mit.edu	37	chr5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcccggagctctcccgCatcctccccagagctgccct	8	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	253										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTCTCCCGCATCCTCCCCA	0.657																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(757-759)gCa>gTa		family with sequence similarity 53, member C							50	60	56					5																	137681135		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681135C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.758C>T	5.37:g.137681135C>T	ENSP00000239906:p.Ala253Val					FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V	p.A253V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1186	+			253					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.758C>T	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.346|9.346	1.064224|1.064224	0.20067|0.20067	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.45668|0.50277	0.89;0.89|0.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.257566|.	0.40469|.	N|.	0.001100|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.47190|0.47190	1.495|1.495	0.29900|0.29900	N|N	0.824489|0.824489	B|P	0.33238|0.52692	0.403|0.955	B|B	0.22601|0.41088	0.04|0.347	T|T	0.54050|0.54050	-0.8351|-0.8351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.7722|-3.7722	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|63	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|Y	253|63	ENSP00000403705:A253V;ENSP00000239906:A253V|ENSP00000425154:H63Y	ENSP00000239906:A253V|ENSP00000425154:H63Y	A|H	+|+	2|1	0|0	FAM53C|FAM53C	137709034|137709034	0.675000|0.675000	0.27558|0.27558	0.775000|0.775000	0.31657|0.31657	0.053000|0.053000	0.15095|0.15095	3.901000|3.901000	0.56303|0.56303	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.657	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		147	577	0	0	0	1	0	147	577					T	137681135	C	T	137681135	3	4	79	1	0	0	0	0	1	0	0	0	5606	710	25	2	768	2	FAM53C	5	137681135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	137681135	43234125	6500	16817											
KDM3B	51780	broad.mit.edu	37	chr5	137765648	137765648	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaagatccgggagctgctCcgaaaggtacgcccctgggt	15	11	0	2	rs199823957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1629	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGCTGCTCCGAAAGGTAC	0.527																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(4885-4887)ctC>ctA		lysine (K)-specific demethylase 3B							57	56	56					5																	137765648		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137765648C>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4887C>A	5.37:g.137765648C>A						KDM3B_ENST00000542866.1_Silent_p.L661L|KDM3B_ENST00000394866.1_Silent_p.L1285L	p.L1629L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			21	5087	+			1629			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.4887C>A	CCDS34242.1																																																																																				0.527	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		36	148	1	0	8.73648e-17	1	9.61379e-17	36	148					A	137765648	C	A	137765648	2	1	79	1	0	0	0	0	0	0	0	1	8157	842	30	3		3	KDM3B	5	137765648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84513	137765648	43149612	6501	16818											
KDM3B	51780	broad.mit.edu	37	chr5	137767233	137767233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaacactcatacaaatcaTgaggataaactgcaggtaaa	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1730					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATACAAATCATGAGGATAAAC	0.423																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(5188-5190)caT>caC		lysine (K)-specific demethylase 3B							86	85	85					5																	137767233		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137767233T>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.5190T>C	5.37:g.137767233T>C						KDM3B_ENST00000542866.1_Silent_p.H762H|KDM3B_ENST00000394866.1_Silent_p.H1386H	p.H1730H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			23	5390	+			1730					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.5190T>C	CCDS34242.1																																																																																				0.423	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		84	285	0	0	0	1	0	84	285					C	137767233	T	C	137767233	2	2	79	1	0	0	0	0	0	0	0	1	8157	1461	51	4		4	KDM3B	5	137767233	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1585	137767233	43148027	6502	16819											
EGR1	1958	broad.mit.edu	37	chr5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctggaggagatgatgCtgctgagcaacggggctccc	15	10	0	3	rs538748263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	40					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(118-120)Ctg>Atg		early growth response 1							77	69	72					5																	137801568		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801568C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.118C>A	5.37:g.137801568C>A	ENSP00000239938:p.Leu40Met						p.L40M	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	390	+			40						Missense_Mutation	SNP	ENST00000239938.4	37	c.118C>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697751	0.48307	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14391	2.51	5.0	4.12	0.48240	.	0.123911	0.53938	N	0.000047	T	0.09686	0.0238	L	0.28344	0.845	0.41657	D	0.989166	P;B	0.34864	0.473;0.001	B;B	0.32393	0.145;0.005	T	0.19353	-1.0308	10	0.14656	T	0.56	-6.652	14.8172	0.70045	0.1452:0.8548:0.0:0.0	.	40;40	B4DNX4;P18146	.;EGR1_HUMAN	M	40	ENSP00000239938:L40M	ENSP00000239938:L40M	L	+	1	2	EGR1	137829467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.304000	0.44892	0.486000	0.48141	CTG		0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		104	421	1	0	8.66691e-33	1	1.02489e-32	104	421					A	137801568	C	A	137801568	3	1	79	1	0	0	0	0	1	0	0	0	4987	796	28	3	120	3	EGR1	5	137801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34335	137801568	43113692	6503	16820											
EGR1	1958	broad.mit.edu	37	chr5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctccgcctccgcctcccaGagcccacccctgagctgcgc	8	23	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(556-558)caG>caT		early growth response 1							111	116	114					5																	137802696		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802696G>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.558G>T	5.37:g.137802696G>T	ENSP00000239938:p.Gln186His						p.Q186H	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	830	+			186						Missense_Mutation	SNP	ENST00000239938.4	37	c.558G>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270913	0.40194	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24723	1.84	4.75	3.88	0.44766	.	0.381500	0.27096	N	0.020949	T	0.40398	0.1115	L	0.53249	1.67	0.37369	D	0.911532	D	0.61697	0.99	D	0.64237	0.923	T	0.42865	-0.9426	10	0.62326	D	0.03	-10.3652	9.4134	0.38505	0.0798:0.1441:0.776:0.0	.	186	P18146	EGR1_HUMAN	H	186	ENSP00000239938:Q186H	ENSP00000239938:Q186H	Q	+	3	2	EGR1	137830595	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.315000	0.65810	0.992000	0.38840	0.305000	0.20034	CAG		0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		234	1009	1	0	1.92159e-75	1	2.45072e-75	234	1009					T	137802696	G	T	137802696	3	4	79	1	0	0	0	0	1	0	0	0	4987	933	33	3	564	3	EGR1	5	137802696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1128	137802696	43112564	6504	16821											
HSPA9	3313	broad.mit.edu	37	chr5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgggttggtgacagcCtgtcgcttggccggcattcc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	108					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.Q108Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTGACAGCCTGTCGCTTGG	0.498																																						ENST00000297185.3																			1	Substitution - coding silent(1)	p.Q108Q(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(322-324)caG>caT		heat shock 70kDa protein 9 (mortalin)							109	99	102					5																	137906735		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906735C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.324G>T	5.37:g.137906735C>A	ENSP00000297185:p.Gln108His						p.Q108H	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	449	-			108					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.324G>T	CCDS4208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.839122|3.839122	0.71373|0.71373	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.01203|.	5.18;5.18;5.18|.	5.34|5.34	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.88796|0.88796	0.3281|0.3281	10|6	0.87932|0.72032	D|D	0|0.01	-10.1034|-10.1034	10.3089|10.3089	0.43697|0.43697	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	39;108|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	H|M	108;94;39;39|78	ENSP00000297185:Q108H;ENSP00000425598:Q39H;ENSP00000423098:Q39H|.	ENSP00000297185:Q108H|ENSP00000438817:R78M	Q|R	-|-	3|2	2|0	HSPA9|HSPA9	137934634|137934634	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.649000|0.649000	0.24843|0.24843	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		24	507	1	0	2.39556e-15	1	2.61601e-15	24	507					A	137906735	C	A	137906735	3	1	79	1	0	0	0	0	1	0	0	0	7447	680	24	3	1771	3	HSPA9	5	137906735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104039	137906735	43008525	6505	16822											
CTNNA1	1495	broad.mit.edu	37	chr5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcttcagcgaggagcGctttaggccttccctggagg	14	11	1	1	rs369518072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000302763.7	+	7	989	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	300					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCGAGGAGCGCTTTAGGCCT	0.507																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(898-900)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	72	67	69		899	5.9	1	5		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTNNA1	NM_001903.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	300/907	138163244	1,13005	2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138163244G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.899G>A	5.37:g.138163244G>A	ENSP00000304669:p.Arg300His					CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H	p.R300H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	989	+			300					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.899G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	0.0	1.16E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42900	0.96;0.96;0.96	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.58428	1.81	0.80722	D	1	B;P	0.36010	0.211;0.532	B;B	0.34824	0.052;0.19	T	0.35895	-0.9770	10	0.45353	T	0.12	-9.6509	19.8512	0.96741	0.0:0.0:1.0:0.0	.	300;300	G3XAM7;P35221	.;CTNA1_HUMAN	H	197;300;300;285;300	ENSP00000347190:R197H;ENSP00000304669:R300H;ENSP00000427821:R300H	ENSP00000304669:R300H	R	+	2	0	CTNNA1	138191143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGC		0.507	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		69	235	0	0	0	1	0	69	235					A	138163244	G	A	138163244	3	1	79	1	0	0	0	0	1	0	0	0	4023	1087	38	1	921	1	CTNNA1	5	138163244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256509	138163244	42752016	6506	16823											
CTNNA1	1495	broad.mit.edu	37	chr5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtaaagaaagaagtgatGcactcaattctgcaatagat	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000302763.7	+	8	1177	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	363	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAAGTGATGCACTCAATTC	0.368																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1087-1089)Gca>Aca		catenin (cadherin-associated protein), alpha 1, 102kDa							137	143	141					5																	138221925		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138221925G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1087G>A	5.37:g.138221925G>A	ENSP00000304669:p.Ala363Thr					CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T	p.A363T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1177	+			363			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1087G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559375	0.27827	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.95	0.65309	.	0.103523	0.64402	D	0.000004	T	0.30510	0.0767	N	0.21373	0.66	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.008	B;B;B	0.19666	0.025;0.006;0.026	T	0.06789	-1.0807	10	0.15066	T	0.55	-10.4149	15.9414	0.79756	0.0:0.0:0.8638:0.1362	.	363;240;363	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	260;363;363;348;363	ENSP00000347190:A260T;ENSP00000304669:A363T;ENSP00000427821:A363T	ENSP00000304669:A363T	A	+	1	0	CTNNA1	138249824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.597000	0.67577	1.447000	0.47661	-0.182000	0.12963	GCA		0.368	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		40	505	0	0	0	1	0	40	505					A	138221925	G	A	138221925	3	1	79	1	0	0	0	0	1	0	0	0	4023	1319	46	2	1113	2	CTNNA1	5	138221925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58681	138221925	42693335	6507	16824											
CTNNA1	1495	broad.mit.edu	37	chr5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtggatggcctggaccGcacagctggtgcaattcgag	16	9	0	0	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000302763.7	+	12	1709	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	540					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCTGGACCGCACAGCTGGT	0.498																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1618-1620)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	55	50	52		1619	5.5	1	5	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTNNA1	NM_001903.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	540/907	138260271	2,13004	2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260271G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1619G>A	5.37:g.138260271G>A	ENSP00000304669:p.Arg540His					CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H	p.R540H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		12	1709	+			540					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1619G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189748	0.78789	0.0	2.33E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.45285	1.41	0.80722	D	1	B;B;B	0.13594	0.008;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.013	T	0.05818	-1.0862	10	0.29301	T	0.29	-9.4098	19.3816	0.94540	0.0:0.0:1.0:0.0	.	540;417;540	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	437;540;540;525;540;170	ENSP00000347190:R437H;ENSP00000304669:R540H;ENSP00000427821:R540H;ENSP00000438476:R170H	ENSP00000304669:R540H	R	+	2	0	CTNNA1	138288170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGC		0.498	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		29	141	0	0	0	1	0	29	141					A	138260271	G	A	138260271	3	1	79	1	0	0	0	0	1	0	0	0	4023	1087	38	1	1661	1	CTNNA1	5	138260271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38346	138260271	42654989	6508	16825											
CTNNA1	1495	broad.mit.edu	37	chr5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagacccctgaggagttgGatgactctgactttgagaca	13	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000302763.7	+	14	2005	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	639					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGGAGTTGGATGACTCTGA	0.572																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1915-1917)Gat>Aat		catenin (cadherin-associated protein), alpha 1, 102kDa							112	114	113					5																	138264950		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138264950G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1915G>A	5.37:g.138264950G>A	ENSP00000304669:p.Asp639Asn					CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N	p.D639N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2005	+			639					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1915G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265546	0.95399	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.65498	2.005	0.80722	D	1	P;P;B	0.36412	0.552;0.464;0.316	B;B;B	0.42087	0.274;0.375;0.245	T	0.35126	-0.9801	10	0.38643	T	0.18	-21.8087	19.3974	0.94612	0.0:0.0:1.0:0.0	.	639;516;639	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	536;639;639;624;639;269	ENSP00000347190:D536N;ENSP00000304669:D639N;ENSP00000427821:D639N;ENSP00000438476:D269N	ENSP00000304669:D639N	D	+	1	0	CTNNA1	138292849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GAT		0.572	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		46	595	0	0	0	1	0	46	595					A	138264950	G	A	138264950	3	1	79	1	0	0	0	0	1	0	0	0	4023	1174	41	2	1965	2	CTNNA1	5	138264950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4679	138264950	42650310	6509	16826											
SIL1	64374	broad.mit.edu	37	chr5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggaaaaggcagcgcCcagcacaaacgcagcatact	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|CTB-46B19.2_ENST00000510110.1_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	251	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCAGCGCCCAGCACAAAC	0.527									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(751-753)Ggc>Agc		SIL1 nucleotide exchange factor							112	91	98					5																	138356876		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138356876C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.751G>A	5.37:g.138356876C>T	ENSP00000378294:p.Gly251Ser					CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S	p.G251S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	890	-			251			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.751G>A	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089502	0.94149	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72421	-0.4299	10	0.33141	T	0.24	-34.4582	19.0941	0.93242	0.0:1.0:0.0:0.0	.	57;258;251	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	251;251;166;258;57	ENSP00000378294:G251S;ENSP00000265195:G251S;ENSP00000426858:G258S;ENSP00000425136:G57S	ENSP00000265195:G251S	G	-	1	0	SIL1	138384775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.265000	0.72534	2.669000	0.90835	0.563000	0.77884	GGC		0.527	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		49	250	0	0	0	1	0	49	250					T	138356876	C	T	138356876	3	4	79	1	0	0	0	0	1	0	0	0	14371	623	22	2	650	2	SIL1	5	138356876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91926	138356876	42558384	6510	16827											
MATR3	9782	broad.mit.edu	37	chr5	138643992	138643992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctgtgctctatatgTgatttgccagttcattctaa	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394805.3	+	2	1223	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000394800.2_Silent_p.C296C|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCTATATGTGATTTGCCAG	0.383																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)tgT>tgC		matrin 3							119	120	119					5																	138643992		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643992T>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.888T>C	5.37:g.138643992T>C						MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000394805.3_Silent_p.C296C|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron	p.C296C			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1437	+			296					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.888T>C	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	T	2.205	-0.382054	0.04966	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.4	4.23	0.50019	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-10.153	10.9343	0.47237	0.0:0.0738:0.0:0.9262	.	.	.	.	A	70	.	.	V	+	2	0	MATR3	138671891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.171000	0.68590	0.459000	0.35465	GTG		0.383	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		169	708	0	0	0	1	0	169	708					C	138643992	T	C	138643992	2	2	79	1	0	0	0	0	0	0	0	1	9378	1702	59	4		4	MATR3	5	138643992	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287116	138643992	42271268	6511	16828											
ECSCR	641700	broad.mit.edu	37	chr5	138837382	138837382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggtcagacttagaccGccaaggcctcctgaaacaga	10	12	2	4	rs147720581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	39					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GACTTAGACCGCCAAGGCCTC	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17859	0.001		0.0	False		,,,				2504	0.0					ENST00000515823.1																			0											c.(115-117)ggC>ggT		endothelial cell surface expressed chemotaxis and apoptosis regulator		G		0,4100		0,0,2050	51	61	58		117	2.8	0	5	dbSNP_134	58	1,8373		0,1,4186	no	coding-synonymous	ECSCR	NM_001077693.2		0,1,6236	AA,AG,GG		0.0119,0.0,0.0080		39/206	138837382	1,12473	2050	4187	6237	SO:0001819	synonymous_variant	641700				angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane		g.chr5:138837382G>A	DQ462572	CCDS75317.1	5q31.2	2012-03-21	2012-03-21			ENSG00000249751			35454	protein-coding gene	gene with protein product	"endothelial cell-specific molecule 2", "apoptosis regulator through modulating IAP expression"	615736	"endothelial cell-specific chemotaxis regulator"			18556573	Standard	NM_001077693		Approved	ECSM2, ARIA	uc011cze.1	Q19T08		ENST00000515823.1:c.117C>T	5.37:g.138837382G>A							p.G39G	NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN			3	189	-			39					B4E3H7|C3RSF2	Silent	SNP	ENST00000515823.1	37	c.117C>T																																																																																					0.557	ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372342.1	NM_001077693		14	65	0	0	0	1	0	14	65					A	138837382	G	A	138837382	2	1	79	1	0	0	0	0	0	0	0	1	4915	1074	38	1		1	ECSCR	5	138837382	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193390	138837382	42077878	6512	16829											
TMEM173	340061	broad.mit.edu	37	chr5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctggcaggatcagccGcagatatccgatgtaatatg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	169	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(505-507)Cgg>Tgg		transmembrane protein 173							61	55	57					5																	138860390		2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860390G>A		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.505C>T	5.37:g.138860390G>A	ENSP00000331288:p.Arg169Trp					TMEM173_ENST00000511850.1_5'UTR	p.R169W	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	838	-			169					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.505C>T	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437981	0.62955	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.26223	1.75;1.75	4.4	-0.251	0.13003	.	0.490146	0.20599	N	0.089186	T	0.38585	0.1046	M	0.63428	1.95	0.35366	D	0.788627	D	0.71674	0.998	P	0.56700	0.804	T	0.56685	-0.7938	10	0.87932	D	0	-16.9345	13.4541	0.61189	0.0:0.0:0.3906:0.6094	.	169	Q86WV6	TM173_HUMAN	W	169	ENSP00000331288:R169W;ENSP00000427455:R169W	ENSP00000331288:R169W	R	-	1	2	TMEM173	138840574	0.999000	0.42202	0.997000	0.53966	0.921000	0.55340	0.573000	0.23699	0.091000	0.17302	-0.314000	0.08810	CGG		0.517	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		31	133	0	0	0	1	0	31	133					A	138860390	G	A	138860390	3	1	79	1	0	0	0	0	1	0	0	0	16141	1086	38	1	650	1	TMEM173	5	138860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23008	138860390	42054870	6513	16830											
TMEM173	340061	broad.mit.edu	37	chr5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatccgatgtaatatgaCcatgccagcccatgggccac	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	161	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(481-483)tgG>tgA		transmembrane protein 173							74	67	69					5																	138860412		2203	4300	6503	SO:0001587	stop_gained	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860412C>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.483G>A	5.37:g.138860412C>T	ENSP00000331288:p.Trp161*					TMEM173_ENST00000511850.1_5'UTR	p.W161*	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	816	-			161					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Nonsense_Mutation	SNP	ENST00000330794.4	37	c.483G>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777147	0.96929	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	.	.	.	4.56	4.56	0.56223	.	0.071294	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2374	17.106	0.86663	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331288:W161X	W	-	3	0	TMEM173	138840596	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.888000	0.69758	2.363000	0.80096	0.561000	0.74099	TGG		0.562	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		34	148	0	0	0	1	0	34	148					T	138860412	C	T	138860412	4	4	79	1	0	0	0	0	0	1	0	0	16141	508	18	2	672	2	TMEM173	5	138860412	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	138860412	42054848	6514	16831											
PSD2	84249	broad.mit.edu	37	chr5	139189208	139189208	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggacactgaggaacccacGaaggacccagatgtggcctt	13	12	0	2	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	61					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACCCACGAAGGACCCAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.0					ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(181-183)acG>acA		pleckstrin and Sec7 domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	74	77	76		183	-4.1	0	5	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	PSD2	NM_032289.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		61/772	139189208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189208G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.183G>A	5.37:g.139189208G>A							p.T61T	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	388	+			61					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.183G>A	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		53	255	0	0	0	1	0	53	255					A	139189208	G	A	139189208	2	1	79	1	0	0	0	0	0	0	0	1	12694	1045	37	1		1	PSD2	5	139189208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328796	139189208	41726052	6515	16832											
PURA	5813	broad.mit.edu	37	chr5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcaagtactacatggaTctcaaggagaaccagcgcgg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	158					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACATGGATCTCAAGGAGA	0.706																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(472-474)gaT>gaG		purine-rich element binding protein A							16	20	19					5																	139494240		2200	4294	6494	SO:0001583	missense	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494240T>G	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.474T>G	5.37:g.139494240T>G	ENSP00000332706:p.Asp158Glu						p.D158E	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	533	+			158						Missense_Mutation	SNP	ENST00000331327.3	37	c.474T>G	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769690	0.90020	.	.	ENSG00000185129	ENST00000331327	T	0.50277	0.75	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76203	-0.3045	10	0.59425	D	0.04	-3.9698	14.3864	0.66947	0.0:0.0:0.0:1.0	.	158	Q00577	PURA_HUMAN	E	158	ENSP00000332706:D158E	ENSP00000332706:D158E	D	+	3	2	PURA	139474424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	2.073000	0.62155	0.533000	0.62120	GAT		0.706	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		42	168	0	0	0	1	0	42	168					G	139494240	T	G	139494240	3	3	79	1	0	0	0	0	1	0	0	0	12877	1432	50	4	476	4	PURA	5	139494240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305032	139494240	41421020	6516	16833											
PFDN1	5201	broad.mit.edu	37	chr5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaacttacttctagtTctttaattttttcttctgct	2	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000514611.1_Intron|PFDN1_ENST00000510217.1_3'UTR|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	93					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328																																						ENST00000261813.4																			0				endometrium(2)|large_intestine(3)|prostate(1)	6						c.(277-279)gAa>gCa		prefoldin subunit 1							86	79	81					5																	139661041		2202	4296	6498	SO:0001583	missense	5201				'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding	g.chr5:139661041T>G	Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"prefoldin 1"			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.278A>C	5.37:g.139661041T>G	ENSP00000261813:p.Glu93Ala					PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000514611.1_Intron	p.E93A	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	325	-			93					B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	ENST00000261813.4	37	c.278A>C	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124391	0.37533	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.37897	1.145	0.80722	D	1	B	0.17667	0.023	B	0.21151	0.033	T	0.13072	-1.0523	10	0.08837	T	0.75	-12.5849	14.3845	0.66934	0.0:0.0:0.0:1.0	.	93	O60925	PFD1_HUMAN	A	93	ENSP00000261813:E93A;ENSP00000428707:E93A	ENSP00000261813:E93A	E	-	2	0	PFDN1	139641225	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.285000	0.65633	2.221000	0.72209	0.528000	0.53228	GAA		0.328	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622		36	120	0	0	0	1	0	36	120					G	139661041	T	G	139661041	3	3	79	1	0	0	0	0	1	0	0	0	11797	1783	62	4	98	4	PFDN1	5	139661041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166801	139661041	41254219	6517	16834											
ANKHD1	54882	broad.mit.edu	37	chr5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatggtaaagcttttgcaGatcctgaggtactccggaga	12	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000360839.2	+	3	656	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	168						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTTGCAGATCCTGAGGT	0.433																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(502-504)Gat>Tat		ankyrin repeat and KH domain containing 1							201	184	190					5																	139818087		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139818087G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.502G>T	5.37:g.139818087G>T	ENSP00000354085:p.Asp168Tyr					ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	p.D168Y	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	626	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.502G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876600|4.876600	0.91664|0.91664	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000511151|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.|T;T;T;T;T;T	.|0.73789	.|-0.75;-0.78;-0.6;-0.4;-0.28;-0.78	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.123818	.|0.51477	.|D	.|0.000086	.|T	.|0.81380	.|0.4810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;P;D	.|0.76494	.|0.917;0.999;0.999;0.917;0.973	.|P;D;D;P;P	.|0.81914	.|0.776;0.995;0.995;0.851;0.894	.|T	.|0.83144	.|-0.0107	.|10	.|0.72032	.|D	.|0.01	.|.	19.2594|19.2594	0.93961|0.93961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;168;168;157;168	.|Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.|.;.;ANKH1_HUMAN;.;.	.|Y	-1|168;182;168;168;168;168;157;168	.|ENSP00000354085:D168Y;ENSP00000297183:D168Y;ENSP00000394489:D168Y;ENSP00000378212:D168Y;ENSP00000378211:D157Y;ENSP00000432016:D168Y	.|ENSP00000432016:D168Y	.|D	+|+	.|1	.|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139798271|139798271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	.|GAT		0.433	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		87	764	1	0	9.37156e-40	1	1.13399e-39	87	764					T	139818087	G	T	139818087	3	4	79	1	0	0	0	0	1	0	0	0	628	942	33	3	512	3	ANKHD1	5	139818087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157046	139818087	41097173	6518	16835											
ANKHD1	54882	broad.mit.edu	37	chr5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgcatagtagaggagaCtgaaggcaagctgaatgaac	15	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000360839.2	+	15	2499	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1_ENST00000297183.6_Missense_Mutation_p.T782I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	782						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAGGAGACTGAAGGCAAG	0.453																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2344-2346)aCt>aTt		ankyrin repeat and KH domain containing 1							98	93	94					5																	139876204		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139876204C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2345C>T	5.37:g.139876204C>T	ENSP00000354085:p.Thr782Ile					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T782I	p.T782I	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2469	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2345C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788684	0.70337	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.69040	-0.34;-0.37;-0.29;-0.37	5.76	5.76	0.90799	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.77247	-0.2658	10	0.51188	T	0.08	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	782;782;782	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	I	782;815;782;782;316;801;782	ENSP00000354085:T782I;ENSP00000297183:T782I;ENSP00000394489:T801I;ENSP00000432016:T782I	ENSP00000432016:T782I	T	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856388	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	ACT		0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		86	345	0	0	0	1	0	86	345					T	139876204	C	T	139876204	3	4	79	1	0	0	0	0	1	0	0	0	628	565	20	2	2509	2	ANKHD1	5	139876204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58117	139876204	41039056	6519	16836											
ANKHD1	54882	broad.mit.edu	37	chr5	139876462	139876462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtcagaaagacacagtgtCtctacaccaacagtgctctc	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876462C>T	ENST00000360839.2	+	15	2757	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S868F|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	868						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACAGTGTCTCTACACCAA	0.448																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2602-2604)tCt>tTt		ankyrin repeat and KH domain containing 1							101	100	101					5																	139876462		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139876462C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2603C>T	5.37:g.139876462C>T	ENSP00000354085:p.Ser868Phe					ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S868F	p.S868F	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2727	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2603C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724921	0.15439	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.65916	-0.13;-0.18;-0.09;-0.18	5.46	2.68	0.31781	Ankyrin repeat-containing domain (1);	0.692985	0.14036	N	0.345792	T	0.40398	0.1115	N	0.08118	0	0.21878	N	0.999491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34079	-0.9843	10	0.56958	D	0.05	.	9.5072	0.39053	0.0:0.6112:0.0:0.3888	.	868;868;868	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	868;901;868;868;402;887;868	ENSP00000354085:S868F;ENSP00000297183:S868F;ENSP00000394489:S887F;ENSP00000432016:S868F	ENSP00000432016:S868F	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856646	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.699000	0.37804	0.788000	0.33755	0.585000	0.79938	TCT		0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		13	449	0	0	0	1	0	13	449					T	139876462	C	T	139876462	3	4	79	1	0	0	0	0	1	0	0	0	628	913	32	2	2767	2	ANKHD1	5	139876462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	139876462	41038798	6520	16837											
APBB3	10307	broad.mit.edu	37	chr5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatccatggagctggtccgCttgagccgcaggcgggcacg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	436	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1306-1308)aaG>aaT		amyloid beta (A4) precursor protein-binding, family B, member 3							27	32	30					5																	139938323		2199	4294	6493	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139938323C>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1308G>T	5.37:g.139938323C>A	ENSP00000350171:p.Lys436Asn					APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000358580.5_3'UTR	p.K436N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1751	-			436			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1308G>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601921	0.66445	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.52057	1.69;1.69;1.7;0.68;1.7	4.76	2.93	0.34026	.	0.567069	0.17031	N	0.189702	T	0.40398	0.1115	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.943	P;P	0.47864	0.559;0.522	T	0.21008	-1.0258	9	.	.	.	-7.5614	4.3405	0.11108	0.0:0.6128:0.2073:0.1799	.	434;441	O95704-2;O95704-3	.;.	N	441;443;436;213;434	ENSP00000349177:K441N;ENSP00000346378:K443N;ENSP00000350171:K436N;ENSP00000444013:K213N;ENSP00000402591:K434N	.	K	-	3	2	APBB3	139918507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	0.973000	0.38340	0.455000	0.32223	AAG		0.662	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		36	352	1	0	1.45844e-13	1	1.57644e-13	36	352					A	139938323	C	A	139938323	3	1	79	1	0	0	0	0	1	0	0	0	762	796	28	3	156	3	APBB3	5	139938323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61861	139938323	40976937	6521	16838											
APBB3	10307	broad.mit.edu	37	chr5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatactgctcttccccggtGccaggtcctcttcaggtacc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000357560.4	-	5	847	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	135	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(403-405)gCa>gTa		amyloid beta (A4) precursor protein-binding, family B, member 3							133	139	137					5																	139942032		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139942032G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.404C>T	5.37:g.139942032G>A	ENSP00000350171:p.Ala135Val					APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V	p.A135V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	847	-			135			PID 1.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.404C>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058791	0.55325	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.12	2.14	0.27477	.	0.254754	0.39985	N	0.001220	T	0.20170	0.0485	L	0.61218	1.895	0.35821	D	0.824607	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.13872	-1.0493	9	.	.	.	-0.5437	10.3978	0.44211	0.2033:0.0:0.7967:0.0	.	135;135	O95704-2;O95704-3	.;.	V	135	ENSP00000351389:A135V;ENSP00000349177:A135V;ENSP00000346378:A135V;ENSP00000350171:A135V;ENSP00000402591:A135V;ENSP00000424317:A135V	.	A	-	2	0	APBB3	139922216	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.725000	0.61979	0.113000	0.18004	-0.142000	0.14014	GCA		0.582	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		195	974	0	0	0	1	0	195	974					A	139942032	G	A	139942032	3	1	79	1	0	0	0	0	1	0	0	0	762	1319	46	2	1109	2	APBB3	5	139942032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3709	139942032	40973228	6522	16839											
APBB3	10307	broad.mit.edu	37	chr5	139943436	139943436	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagtacctgcagcatcgtgGatcttcctccagccaggagg	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000357560.4	-	2	557	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.I38I|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	38	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(112-114)atC>atT		amyloid beta (A4) precursor protein-binding, family B, member 3							85	79	81					5																	139943436		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139943436G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.114C>T	5.37:g.139943436G>A						APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000511201.2_Silent_p.I38I	p.I38I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	557	-			38			WW.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	c.114C>T	CCDS4229.1																																																																																				0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		44	199	0	0	0	1	0	44	199					A	139943436	G	A	139943436	2	1	79	1	0	0	0	0	0	0	0	1	762	1164	41	2		2	APBB3	5	139943436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1404	139943436	40971824	6523	16840											
SLC35A4	113829	broad.mit.edu	37	chr5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgcctccggcaccGcctctctgtgcgtcaggggt	12	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H|APBB3_ENST00000357560.4_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592																																						ENST00000514199.1																			1	Substitution - Missense(1)	p.R137L(1)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(409-411)cGc>cAc		solute carrier family 35, member A4							41	42	42					5																	139947164		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947164G>A	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>A	5.37:g.139947164G>A	ENSP00000424566:p.Arg137His					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H	p.R137H			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2096	+			137			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.410G>A	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856334	0.51376	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49720	0.77;0.77	5.11	4.23	0.50019	.	0.062145	0.64402	N	0.000009	T	0.46521	0.1397	M	0.72894	2.215	0.53005	D	0.999962	B	0.31351	0.32	B	0.29942	0.109	T	0.44097	-0.9350	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	H	137	ENSP00000327133:R137H;ENSP00000424566:R137H	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC		0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		83	272	0	0	0	1	0	83	272					A	139947164	G	A	139947164	3	1	79	1	0	0	0	0	1	0	0	0	14623	1087	38	1	412	1	SLC35A4	5	139947164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3728	139947164	40968096	6524	16841											
SLC35A4	113829	broad.mit.edu	37	chr5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactccgctaggcctgctgcTcctcattctgtactgcctca	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	191	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(571-573)cTc>cCc		solute carrier family 35, member A4							99	94	95					5																	139947326		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947326T>C	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.572T>C	5.37:g.139947326T>C	ENSP00000424566:p.Leu191Pro					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P	p.L191P			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2258	+			191			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.572T>C	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493211	0.26774	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.66426	0.2788	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68135	-0.5489	9	.	.	.	-9.4098	13.9451	0.64080	0.0:0.0:0.0:1.0	.	191	Q96G79	S35A4_HUMAN	P	191	ENSP00000327133:L191P;ENSP00000424566:L191P	.	L	+	2	0	SLC35A4	139927510	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	7.487000	0.81328	1.961000	0.56991	0.379000	0.24179	CTC		0.612	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		129	514	0	0	0	1	0	129	514					C	139947326	T	C	139947326	3	2	79	1	0	0	0	0	1	0	0	0	14623	1551	54	4	574	4	SLC35A4	5	139947326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162	139947326	40967934	6525	16842											
CD14	929	broad.mit.edu	37	chr5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtctgttgcagctgagatCgagcactctgagcttggctg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	303				D -> E (in Ref. 5; AAC83816). {ECO:0000305}.	apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(907-909)Gat>Aat		CD14 molecule							59	58	58					5																	140011662		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011662C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.907G>A	5.37:g.140011662C>T	ENSP00000304236:p.Asp303Asn					CD14_ENST00000401743.2_Missense_Mutation_p.D303N	p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1536	-			303	D -> E (in Ref. 5; AAC83816).				Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.907G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375894	0.61735	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.19938	2.11;2.11	6.06	4.2	0.49525	.	0.000000	0.51477	D	0.000087	T	0.19805	0.0476	M	0.64404	1.975	0.30579	N	0.762722	P	0.41947	0.766	B	0.36504	0.226	T	0.29150	-1.0021	10	0.87932	D	0	-14.6982	7.7506	0.28894	0.0:0.7523:0.1631:0.0846	.	303	P08571	CD14_HUMAN	N	303	ENSP00000304236:D303N;ENSP00000385519:D303N	ENSP00000304236:D303N	D	-	1	0	CD14	139991846	0.364000	0.24997	0.607000	0.28956	0.961000	0.63080	1.209000	0.32357	1.584000	0.49913	0.655000	0.94253	GAT		0.602	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		58	265	0	0	0	1	0	58	265					T	140011662	C	T	140011662	3	4	79	1	0	0	0	0	1	0	0	0	2973	884	31	1	224	1	CD14	5	140011662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64336	140011662	40903598	6526	16843											
TMCO6	55374	broad.mit.edu	37	chr5	140023463	140023463	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagatgagcgtgttgtGgcagccttatttatccttct	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	TMCO6_ENST00000537378.1_Silent_p.V99V|TMCO6_ENST00000252100.6_Silent_p.V345V|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	339					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1015-1017)gtG>gtT		transmembrane and coiled-coil domains 6							94	104	101					5																	140023463		2075	4235	6310	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023463G>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1017G>T	5.37:g.140023463G>T						TMCO6_ENST00000537378.1_Silent_p.V99V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.V345V	p.V339V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1118	+			339					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.1017G>T	CCDS4233.2																																																																																				0.537	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		81	309	1	0	6.86016e-32	1	8.08805e-32	81	309					T	140023463	G	T	140023463	2	4	79	1	0	0	0	0	0	0	0	1	16052	1335	47	3		3	TMCO6	5	140023463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11801	140023463	40891797	6527	16844											
IK	3550	broad.mit.edu	37	chr5	140040342	140040342	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaactcttgcttctccttaGgatggatgacatggctgtgg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463																																						ENST00000417647.2																			0				large_intestine(1)	1						c.e16-1		IK cytokine, down-regulator of HLA II							234	230	231					5																	140040342		1993	4177	6170	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140040342G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1356-1G>T	5.37:g.140040342G>T								NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1494	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)						Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37		CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086207	0.76642	.	.	ENSG00000113141	ENST00000417647	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7911	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140020526	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.261000	0.74972	0.655000	0.94253	.		0.463	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Intron	47	242	1	0	8.86878e-18	1	9.80954e-18	47	242					T	140040342	G	T	140040342	5	4	79	1	0	0	0	0	0	0	1	0	7638	1014	35	3	1417	3	IK	5	140040342	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16879	140040342	40874918	6528	16845											
WDR55	54853	broad.mit.edu	37	chr5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaacattaagaggcgtcGgtttgagctgctctcagaac	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(601-603)cGg>cAg		WD repeat domain 55							84	78	80					5																	140048517		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048517G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.602G>A	5.37:g.140048517G>A	ENSP00000351100:p.Arg201Gln					WDR55_ENST00000520764.1_3'UTR	p.R201Q	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	839	+			201					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.602G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879096	0.72294	.	.	ENSG00000120314	ENST00000358337	T	0.28069	1.63	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.42471	0.1204	M	0.66939	2.045	0.53005	D	0.999968	D;D	0.69078	0.993;0.997	P;P	0.58331	0.837;0.808	T	0.46596	-0.9180	10	0.05525	T	0.97	-10.756	13.3211	0.60434	0.0779:0.0:0.922:0.0	.	40;201	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Q	201	ENSP00000351100:R201Q	ENSP00000351100:R201Q	R	+	2	0	WDR55	140028701	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	9.449000	0.97603	1.289000	0.44618	0.467000	0.42956	CGG		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		66	296	0	0	0	1	0	66	296					A	140048517	G	A	140048517	3	1	79	1	0	0	0	0	1	0	0	0	17361	1116	39	1	620	1	WDR55	5	140048517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8175	140048517	40866743	6529	16846											
WDR55	54853	broad.mit.edu	37	chr5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagggaagagggagaagactCcatggctcaggaagaaaagg	17	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	369					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGACTCCATGGCTCAG	0.527																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(1105-1107)tCc>tAc		WD repeat domain 55							46	47	47					5																	140049193		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140049193C>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1106C>A	5.37:g.140049193C>A	ENSP00000351100:p.Ser369Tyr					WDR55_ENST00000520764.1_3'UTR	p.S369Y	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1343	+			369					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.1106C>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130747	0.08981	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.08	3.28	0.37604	.	2.952420	0.01434	U	0.014845	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20140	-1.0284	10	0.62326	D	0.03	1.6088	5.5687	0.17184	0.2574:0.5876:0.0:0.155	.	369	Q9H6Y2	WDR55_HUMAN	Y	369	ENSP00000351100:S369Y	ENSP00000351100:S369Y	S	+	2	0	WDR55	140029377	0.000000	0.05858	0.031000	0.17742	0.426000	0.31534	1.067000	0.30616	1.124000	0.41980	-0.444000	0.05651	TCC		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		23	120	1	0	1.12875e-08	1	1.18168e-08	23	120					A	140049193	C	A	140049193	3	1	79	1	0	0	0	0	1	0	0	0	17361	855	30	3	1132	3	WDR55	5	140049193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	676	140049193	40866067	6530	16847											
HARS	3035	broad.mit.edu	37	chr5	140056961	140056961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccacctcaggtgcaagGcccttctctcccaccatctc	6	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504156.1	-	8	1493	c.774C>T	c.(772-774)ggC>ggT	p.G258G	HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000504366.1_Silent_p.G189G|HARS_ENST00000448240.1_Silent_p.G63G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	258					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(565-567)ggC>ggT		histidyl-tRNA synthetase	L-Histidine(DB00117)						169	142	151					5																	140056961		2203	4300	6503	SO:0001819	synonymous_variant	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056961G>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.774C>T	5.37:g.140056961G>A						HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000504156.1_Silent_p.G258G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000415192.2_Silent_p.G184G	p.G189G			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2386	-			258					B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	37	c.567C>T	CCDS4237.1																																																																																				0.602	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		85	439	0	0	0	1	0	85	439					A	140056961	G	A	140056961	2	1	79	1	0	0	0	0	0	0	0	1	6989	1190	42	2		2	HARS	5	140056961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7768	140056961	40858299	6531	16848											
PCDHA1	56147	broad.mit.edu	37	chr5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtcctatgaactgcaGccggcagcaggcggcgcgcg	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAACTGCAGCCGGCAGCAG	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1834-1836)caG>caT									75	78	77					5																	140167711		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167711G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1836G>T	5.37:g.140167711G>T	ENSP00000420840:p.Gln612His					PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	p.Q612H	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1836	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1836G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.107277	0.01813	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	1.601980	0.05045	U	0.476965	T	0.34454	0.0898	L	0.33668	1.02	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20577	0.03;0.013	T	0.25641	-1.0126	10	0.40728	T	0.16	.	0.9002	0.01272	0.3148:0.1704:0.3632:0.1517	.	612;612	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	612	ENSP00000420840:Q612H;ENSP00000367373:Q612H	ENSP00000367373:Q612H	Q	+	3	2	PCDHA1	140147895	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.399000	0.34566	0.113000	0.18004	-0.439000	0.05793	CAG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		138	562	1	0	2.49262e-74	1	3.17562e-74	138	562					T	140167711	G	T	140167711	3	4	79	1	0	0	0	0	1	0	0	0	11561	962	34	3	1838	3	PCDHA1	5	140167711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110750	140167711	40747549	6532	16849											
PCDHA2	56146	broad.mit.edu	37	chr5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggtgaccGcacgggacgggggctcgcct	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175828G>A	ENST00000526136.1	+	1	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1279-1281)Gca>Aca									101	96	98					5																	140175828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175828G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1279G>A	5.37:g.140175828G>A	ENSP00000431748:p.Ala427Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T	p.A427T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1279G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.620473	0.66787	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.71341	-0.56;-0.56;-0.56	3.98	3.98	0.46160	Cadherin (5);Cadherin-like (1);	0.000000	0.39475	U	0.001346	D	0.89441	0.6716	H	0.98525	4.255	0.44247	D	0.997095	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63793	0.867;0.884;0.918	D	0.94032	0.7302	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	427;427;427	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	427	ENSP00000430584:A427T;ENSP00000367372:A427T;ENSP00000431748:A427T	ENSP00000367372:A427T	A	+	1	0	PCDHA2	140156012	1.000000	0.71417	0.094000	0.20943	0.237000	0.25408	9.665000	0.98609	1.920000	0.55613	0.650000	0.86243	GCA		0.632	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		171	717	0	0	0	1	0	171	717					A	140175828	G	A	140175828	3	1	79	1	0	0	0	0	1	0	0	0	11566	1087	38	1	1281	1	PCDHA2	5	140175828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8117	140175828	40739432	6533	16850											
PCDHA2	56146	broad.mit.edu	37	chr5	140175911	140175911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaacgcgccggcGttcgcacagcctgagtacac	12	14	0	2	rs540494529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000526136.1	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGTTCGCACAGC	0.647																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1360-1362)gcG>gcA									78	79	78					5																	140175911		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175911G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1362G>A	5.37:g.140175911G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A	p.A454A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1362G>A	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		126	555	0	0	0	1	0	126	555					A	140175911	G	A	140175911	2	1	79	1	0	0	0	0	0	0	0	1	11566	1132	40	1		1	PCDHA2	5	140175911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	140175911	40739349	6534	16851											
PCDHA2	56146	broad.mit.edu	37	chr5	140175956	140175956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccgggctgccacatcttcac	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000526136.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1405-1407)ccG>ccA									60	65	63					5																	140175956		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175956G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1407G>A	5.37:g.140175956G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P	p.P469P	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1407	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1407G>A	CCDS54914.1																																																																																				0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		140	536	0	0	0	1	0	140	536					A	140175956	G	A	140175956	2	1	79	1	0	0	0	0	0	0	0	1	11566	1074	38	1		1	PCDHA2	5	140175956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	140175956	40739304	6535	16852											
PCDHA2	56146	broad.mit.edu	37	chr5	140176178	140176178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggatgcgggcgtgccGcctctgggcagcaacgtgac	18	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1627-1629)ccG>ccA									61	64	63					5																	140176178		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140176178G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1629G>A	5.37:g.140176178G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P	p.P543P	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1629G>A	CCDS54914.1																																																																																				0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		137	578	0	0	0	1	0	137	578					A	140176178	G	A	140176178	2	1	79	1	0	0	0	0	0	0	0	1	11566	1074	38	1		1	PCDHA2	5	140176178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	140176178	40739082	6536	16853											
PCDHA2	56146	broad.mit.edu	37	chr5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtgagtgagctggtgcCgtggtcggtgggtgcagggc	21	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000526136.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	582					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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1744-1746)cCg>cTg									112	104	107					5																	140176294		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176294C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1745C>T	5.37:g.140176294C>T	ENSP00000431748:p.Pro582Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L	p.P582L	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1745	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1745C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	7.812	0.715864	0.15306	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39229	1.09;1.09;1.09	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.689444	0.11686	U	0.539348	T	0.31827	0.0809	L	0.28608	0.87	0.23351	N	0.997858	B;B;B	0.30406	0.236;0.278;0.236	B;B;B	0.24269	0.021;0.052;0.046	T	0.27331	-1.0077	10	0.59425	D	0.04	.	13.5997	0.62011	0.0:0.8437:0.1563:0.0	.	582;582;582	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	582	ENSP00000430584:P582L;ENSP00000367372:P582L;ENSP00000431748:P582L	ENSP00000367372:P582L	P	+	2	0	PCDHA2	140156478	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.184000	0.42575	1.917000	0.55516	0.549000	0.68633	CCG		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		117	505	0	0	0	1	0	117	505					T	140176294	C	T	140176294	3	4	79	1	0	0	0	0	1	0	0	0	11566	652	23	1	1747	1	PCDHA2	5	140176294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	140176294	40738966	6537	16854											
PCDHA2	56146	broad.mit.edu	37	chr5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgctcggtgccacccaccGagggtgcgcgcgcgccagga	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000526136.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	729					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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2185-2187)Gag>Aag									56	57	57					5																	140176734		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176734G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2185G>A	5.37:g.140176734G>A	ENSP00000431748:p.Glu729Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K	p.E729K	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2185G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	6.745	0.506288	0.12883	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.13657	2.57;2.57;2.57	2.91	1.05	0.20165	.	1.627180	0.04542	U	0.388267	T	0.24736	0.0600	M	0.89601	3.045	0.09310	N	1	B;B;B	0.24368	0.102;0.064;0.1	B;B;B	0.23852	0.049;0.024;0.046	T	0.36335	-0.9752	10	0.54805	T	0.06	.	5.3552	0.16057	0.4654:0.0:0.5346:0.0	.	729;729;729	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	729	ENSP00000430584:E729K;ENSP00000367372:E729K;ENSP00000431748:E729K	ENSP00000367372:E729K	E	+	1	0	PCDHA2	140156918	0.051000	0.20477	0.128000	0.21923	0.009000	0.06853	0.980000	0.29513	0.262000	0.21774	0.585000	0.79938	GAG		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		135	541	0	0	0	1	0	135	541					A	140176734	G	A	140176734	3	1	79	1	0	0	0	0	1	0	0	0	11566	1059	37	1	2187	1	PCDHA2	5	140176734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440	140176734	40738526	6538	16855											
PCDHA3	56145	broad.mit.edu	37	chr5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgctgtcgagctacgtgtCggtacacgcggagagcggca	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000522353.2	+	1	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1525-1527)tCg>tTg									74	75	75					5																	140182308		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182308C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1526C>T	5.37:g.140182308C>T	ENSP00000429808:p.Ser509Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S509L	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1526	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1526C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	19.17	3.775803	0.70107	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001610	T	0.74816	0.3766	M	0.79926	2.475	0.30931	N	0.72689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77816	-0.2447	10	0.87932	D	0	.	18.1666	0.89729	0.0:1.0:0.0:0.0	.	509;509	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	509	ENSP00000429808:S509L;ENSP00000434086:S509L	ENSP00000429808:S509L	S	+	2	0	PCDHA3	140162492	0.685000	0.27652	0.996000	0.52242	0.848000	0.48234	1.360000	0.34125	2.374000	0.81015	0.461000	0.40582	TCG		0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		170	736	0	0	0	1	0	170	736					T	140182308	C	T	140182308	3	4	79	1	0	0	0	0	1	0	0	0	11567	893	31	1	1528	1	PCDHA3	5	140182308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5574	140182308	40732952	6539	16856											
PCDHA5	56143	broad.mit.edu	37	chr5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgctccactcagcacggtcAttgctctgatcagcgtgtct	9	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGGTCATTGCTCTGAT	0.537																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1102-1104)Att>Gtt									106	95	99					5																	140202462		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202462A>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1102A>G	5.37:g.140202462A>G	ENSP00000436557:p.Ile368Val					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.I368V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1102	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1102A>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.614497	0.00835	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.41758	0.99;0.99;0.99	3.84	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.02357	-0.585	0.24350	N	0.994924	B;B;B	0.27971	0.196;0.163;0.163	P;B;B	0.46208	0.507;0.133;0.21	T	0.40136	-0.9579	9	0.38643	T	0.18	.	4.7341	0.12979	0.7127:0.0:0.2873:0.0	.	368;368;368	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	368	ENSP00000433416:I368V;ENSP00000436557:I368V;ENSP00000367366:I368V	ENSP00000367366:I368V	I	+	1	0	PCDHA5	140182646	0.615000	0.27026	0.168000	0.22838	0.075000	0.17131	1.124000	0.31320	1.492000	0.48499	0.460000	0.39030	ATT		0.537	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		111	439	0	0	0	1	0	111	439					G	140202462	A	G	140202462	3	3	79	1	0	0	0	0	1	0	0	0	11569	217	8	4	1104	4	PCDHA5	5	140202462	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20154	140202462	40712798	6540	16857											
PCDHA5	56143	broad.mit.edu	37	chr5	140202725	140202725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacgctccggcgttcgcGcagccccagtataccgtgtt	11	15	0	0	rs373077783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGTTCGCGCAGCCCCAGT	0.677																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1363-1365)gcG>gcA				G	,,,,,,	0,4406		0,0,2203	71	73	72		,,,,1365,,1365	0.7	1	5		72	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,	,,,,455/937,,455/817	140202725	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140202725G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1365G>A	5.37:g.140202725G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A455A	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1365	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1365G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		28	736	0	0	0	1	0	28	736					A	140202725	G	A	140202725	2	1	79	1	0	0	0	0	0	0	0	1	11569	1074	38	1		1	PCDHA5	5	140202725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	140202725	40712535	6541	16858											
PCDHA5	56143	broad.mit.edu	37	chr5	140203604	140203604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggtggggagctggtcGtactcgcagcagaggagaca	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	748					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.S748S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.647																																						ENST00000529859.1																			2	Substitution - coding silent(2)	p.S748S(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2242-2244)tcG>tcA									72	65	67					5																	140203604		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140203604G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2244G>A	5.37:g.140203604G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S748S	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2244	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2244G>A	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		68	254	0	0	0	1	0	68	254					A	140203604	G	A	140203604	2	1	79	1	0	0	0	0	0	0	0	1	11569	1132	40	1		1	PCDHA5	5	140203604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	879	140203604	40711656	6542	16859											
PCDHA6	56142	broad.mit.edu	37	chr5	140208858	140208858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgacgcctcacgtcccTttcaagctggtgtccacctt	8	16	2	1	rs393935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208858T>C	ENST00000529310.1	+	1	1296	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTCCCTTTCAAGCTGG	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1180-1182)ccT>ccC									182	170	174					5																	140208858		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140208858T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1182T>C	5.37:g.140208858T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P394P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1296	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1182T>C	CCDS47281.1																																																																																				0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		25	1243	0	0	0	1	0	25	1243					C	140208858	T	C	140208858	2	2	79	1	0	0	0	0	0	0	0	1	11570	1596	56	4		4	PCDHA6	5	140208858	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5254	140208858	40706402	6543	16860											
PCDHA7	56141	broad.mit.edu	37	chr5	140214937	140214937	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatcccagtcgaggctgtCgataaaggcttcccacccct	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	323	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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(967-969)gtC>gtT									138	122	127					5																	140214937		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140214937C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.969C>T	5.37:g.140214937C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.V323V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	969	+								O75282	Silent	SNP	ENST00000525929.1	37	c.969C>T	CCDS54918.1																																																																																				0.473	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		64	269	0	0	0	1	0	64	269					T	140214937	C	T	140214937	2	4	79	1	0	0	0	0	0	0	0	1	11571	871	31	1		1	PCDHA7	5	140214937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6079	140214937	40700323	6544	16861											
PCDHA8	56140	broad.mit.edu	37	chr5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatacgaagtaagaatattcGaaaacgcagacaacggaaca	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	253	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)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAACGCAGA	0.433																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(757-759)Gaa>Aaa									62	61	61					5																	140221663		2203	4299	6502	SO:0001583	missense	0							g.chr5:140221663G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.757G>A	5.37:g.140221663G>A	ENSP00000434655:p.Glu253Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E253K	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	757	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.757G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174784	0.94807	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.76316	-1.01;-1.01	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001967	D	0.93973	0.8070	H	0.99929	4.97	0.44168	D	0.99697	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97151	0.9831	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	253	ENSP00000434655:E253K;ENSP00000367363:E253K	ENSP00000367363:E253K	E	+	1	0	PCDHA8	140201847	1.000000	0.71417	0.475000	0.27278	0.191000	0.23601	7.880000	0.87243	1.799000	0.52666	0.558000	0.71614	GAA		0.433	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		40	331	0	0	0	1	0	40	331					A	140221663	G	A	140221663	3	1	79	1	0	0	0	0	1	0	0	0	11572	1059	37	1	759	1	PCDHA8	5	140221663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	140221663	40693597	6545	16862											
PCDHA8	56140	broad.mit.edu	37	chr5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgcgagacGcggacgcgcaggagaacgcg	17	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1444-1446)Gcg>Acg									47	53	51					5																	140222350		2195	4261	6456	SO:0001583	missense	0							g.chr5:140222350G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1444G>A	5.37:g.140222350G>A	ENSP00000434655:p.Ala482Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A482T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1444	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1444G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	PCDHA8	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		112	582	0	0	0	1	0	112	582					A	140222350	G	A	140222350	3	1	79	1	0	0	0	0	1	0	0	0	11572	1087	38	1	1446	1	PCDHA8	5	140222350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	687	140222350	40692910	6546	16863											
PCDHA9	9752	broad.mit.edu	37	chr5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgtctgtggaggtggccGacgtgaacgacaacgcacca	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000532602.1	+	1	2372	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GGAGGTGGCCGACGTGAACGA	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1339-1341)Gac>Aac									88	83	85					5																	140229419		2196	4271	6467	SO:0001583	missense	0							g.chr5:140229419G>A	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.1339G>A	5.37:g.140229419G>A	ENSP00000436042:p.Asp447Asn					PCDHA9_ENST00000532602.1_Missense_Mutation_p.D447N|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D447N	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2063	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1339G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557030	0.86231	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.84298	-1.83;-1.83	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.94614	0.8264	H	0.96048	3.76	0.43107	D	0.994801	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96709	0.9524	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	447	ENSP00000436042:D447N;ENSP00000367362:D447N	ENSP00000367362:D447N	D	+	1	0	PCDHA9	140209603	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		85	727	0	0	0	1	0	85	727					A	140229419	G	A	140229419	3	1	79	1	0	0	0	0	1	0	0	0	11573	1058	37	1	1341	1	PCDHA9	5	140229419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7069	140229419	40685841	6547	16864											
PCDHA9	9752	broad.mit.edu	37	chr5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgcgcgggacgctgAcgcgcaggagaacgccctgg	18	12	1	2	rs370317629		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000532602.1	+	1	2481	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	483	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)			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)			CGGGACGCTGACGCGCAGGAG	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1447-1449)gAc>gGc				A	GLY/ASP,,,,,,,,,,,GLY/ASP	0,4390		0,0,2195	55	62	60		1448,,,,,,,,,,,1448	3.6	1	5		60	1,8529	1.2+/-3.3	0,1,4264	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	94,,,,,,,,,,,94	0,1,6459	GG,GA,AA		0.0117,0.0,0.0077	,,,,,,,,,,,	483/843,,,,,,,,,,,483/951	140229528	1,12919	2195	4265	6460	SO:0001583	missense	0							g.chr5:140229528A>G	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.1448A>G	5.37:g.140229528A>G	ENSP00000436042:p.Asp483Gly					PCDHA9_ENST00000532602.1_Missense_Mutation_p.D483G|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D483G	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2172	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1448A>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971122	0.53614	0.0	1.17E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74632	-0.86;-0.86	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.91092	0.7196	H	0.98721	4.31	0.43179	D	0.994999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93890	0.7179	10	0.87932	D	0	.	12.6265	0.56632	1.0:0.0:0.0:0.0	.	483;483	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	G	483	ENSP00000436042:D483G;ENSP00000367362:D483G	ENSP00000367362:D483G	D	+	2	0	PCDHA9	140209712	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.623000	0.74238	1.606000	0.50161	0.254000	0.18369	GAC		0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		157	647	0	0	0	1	0	157	647					G	140229528	A	G	140229528	3	3	79	1	0	0	0	0	1	0	0	0	11573	275	10	4	1450	4	PCDHA9	5	140229528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109	140229528	40685732	6548	16865											
PCDHA9	9752	broad.mit.edu	37	chr5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgctgctgacacctcGgatgaggggcactgacggcg	17	13	0	3	rs202136378		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000532602.1	+	1	2739	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CTGACACCTCGGATGAGGGGC	0.711																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1705-1707)cGg>cAg									57	62	60					5																	140229786		2196	4267	6463	SO:0001583	missense	0							g.chr5:140229786G>A	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.1706G>A	5.37:g.140229786G>A	ENSP00000436042:p.Arg569Gln					PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569Q|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R569Q	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2430	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1706G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655074	0.03480	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.63417	-0.04;-0.04	2.59	2.59	0.31030	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.35885	0.0947	N	0.10782	0.045	0.09310	N	0.999995	B;D	0.54601	0.008;0.967	B;B	0.31946	0.004;0.138	T	0.07102	-1.0790	10	0.27785	T	0.31	.	12.4556	0.55702	0.0:0.0:1.0:0.0	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	569	ENSP00000436042:R569Q;ENSP00000367362:R569Q	ENSP00000367362:R569Q	R	+	2	0	PCDHA9	140209970	0.000000	0.05858	0.052000	0.19188	0.025000	0.11179	0.195000	0.17155	1.725000	0.51514	0.313000	0.20887	CGG		0.711	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		130	600	0	0	0	1	0	130	600					A	140229786	G	A	140229786	3	1	79	1	0	0	0	0	1	0	0	0	11573	1116	39	1	1708	1	PCDHA9	5	140229786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	140229786	40685474	6549	16866											
PCDHA9	9752	broad.mit.edu	37	chr5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacgcgtggctttcatacGagctgcagccagaaacggcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000532602.1	+	1	2861	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	610	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GCTTTCATACGAGCTGCAGCC	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(1828-1830)Gag>Aag									61	67	65					5																	140229908		2196	4269	6465	SO:0001583	missense	0							g.chr5:140229908G>A	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.1828G>A	5.37:g.140229908G>A	ENSP00000436042:p.Glu610Lys					PCDHA9_ENST00000532602.1_Missense_Mutation_p.E610K|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E610K	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2552	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1828G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599753	0.46318	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.61739	0.2371	L	0.60067	1.865	0.20074	N	0.999932	P;D	0.89917	0.945;1.0	P;D	0.80764	0.545;0.994	T	0.52403	-0.8580	10	0.87932	D	0	.	11.4541	0.50171	0.0:0.1816:0.8184:0.0	.	610;610	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	610	ENSP00000436042:E610K;ENSP00000367362:E610K	ENSP00000367362:E610K	E	+	1	0	PCDHA9	140210092	0.000000	0.05858	0.968000	0.41197	0.109000	0.19521	0.053000	0.14184	1.934000	0.56057	0.313000	0.20887	GAG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		126	475	0	0	0	1	0	126	475					A	140229908	G	A	140229908	3	1	79	1	0	0	0	0	1	0	0	0	11573	1059	37	1	1830	1	PCDHA9	5	140229908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	140229908	40685352	6550	16867											
PCDHA10	56139	broad.mit.edu	37	chr5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcttcttctcctcgcaGcctgggaggtggggagcggc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCGCAGCCTGGGAGGT	0.597																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(64-66)Gcc>Tcc									60	69	66					5																	140235697		2196	4273	6469	SO:0001583	missense	0							g.chr5:140235697G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.64G>T	5.37:g.140235697G>T	ENSP00000304234:p.Ala22Ser					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A22S	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	64	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.64G>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487865	0.04352	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54675	0.56;0.66	4.31	-2.66	0.06077	.	.	.	.	.	T	0.37544	0.1007	L	0.49513	1.565	0.09310	N	1	B;B;P	0.36789	0.272;0.023;0.57	B;B;B	0.33750	0.169;0.023;0.142	T	0.21075	-1.0256	9	0.21540	T	0.41	.	6.4531	0.21914	0.1416:0.0:0.3836:0.4747	.	22;22;22	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	22	ENSP00000421030:A22S;ENSP00000304234:A22S	ENSP00000304234:A22S	A	+	1	0	PCDHA10	140215881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.159000	0.10056	-0.740000	0.04803	-0.410000	0.06199	GCC		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		113	471	1	0	4.98428e-49	1	6.16141e-49	113	471					T	140235697	G	T	140235697	3	4	79	1	0	0	0	0	1	0	0	0	11562	971	34	3	66	3	PCDHA10	5	140235697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5789	140235697	40679563	6551	16868											
PCDHA10	56139	broad.mit.edu	37	chr5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggttggtcactgcacgGtcctagtggaactactggat	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGCACGGTCCTAGTGGA	0.418																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1003-1005)Gtc>Atc									147	138	141					5																	140236636		2196	4271	6467	SO:0001583	missense	0							g.chr5:140236636G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1003G>A	5.37:g.140236636G>A	ENSP00000304234:p.Val335Ile					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.V335I	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1003	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1003G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812823	0.32053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59906	0.23;0.23	4.15	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.51422	1.61	0.24712	N	0.993192	B;B;B	0.31256	0.316;0.237;0.146	B;B;B	0.41036	0.346;0.181;0.254	T	0.53563	-0.8421	9	0.37606	T	0.19	.	12.8103	0.57635	0.0:0.3147:0.6853:0.0	.	335;335;335	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	335	ENSP00000421030:V335I;ENSP00000304234:V335I	ENSP00000304234:V335I	V	+	1	0	PCDHA10	140216820	0.193000	0.23313	0.031000	0.17742	0.713000	0.41058	0.490000	0.22403	1.046000	0.40249	0.561000	0.74099	GTC		0.418	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		111	444	0	0	0	1	0	111	444					A	140236636	G	A	140236636	3	1	79	1	0	0	0	0	1	0	0	0	11562	1261	44	2	1005	2	PCDHA10	5	140236636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	939	140236636	40678624	6552	16869											
PCDHA10	56139	broad.mit.edu	37	chr5	140237244	140237244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgatgggggcgtgccgcctct	17	13	1	1	rs200404988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGATGGGGGCG	0.682																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1609-1611)cgC>cgT									53	57	55					5																	140237244		2196	4265	6461	SO:0001819	synonymous_variant	0							g.chr5:140237244C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1611C>T	5.37:g.140237244C>T						PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R537R	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1611C>T	CCDS54921.1																																																																																				0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		134	636	0	0	0	1	0	134	636					T	140237244	C	T	140237244	2	4	79	1	0	0	0	0	0	0	0	1	11562	755	27	1		1	PCDHA10	5	140237244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608	140237244	40678016	6553	16870											
PCDHA10	56139	broad.mit.edu	37	chr5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtgagctggtgctgcGgtcggtggttgcgggtcacg	19	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGGTCGGTGGTT	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1744-1746)cGg>cAg									76	71	73					5																	140237378		1322	2290	3612	SO:0001583	missense	0							g.chr5:140237378G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1745G>A	5.37:g.140237378G>A	ENSP00000304234:p.Arg582Gln					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R582Q	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1745	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1745G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460291	0.12342	.	.	ENSG00000250120	ENST00000307360	T	0.37915	1.17	3.68	3.68	0.42216	Cadherin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.39467	1.215	0.09310	N	1	P;B	0.40266	0.71;0.373	B;B	0.31495	0.131;0.089	T	0.14200	-1.0481	9	0.54805	T	0.06	.	9.7713	0.40591	0.0966:0.0:0.9034:0.0	.	582;582	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	582	ENSP00000304234:R582Q	ENSP00000304234:R582Q	R	+	2	0	PCDHA10	140217562	0.000000	0.05858	0.064000	0.19789	0.003000	0.03518	-0.028000	0.12350	2.041000	0.60428	0.491000	0.48974	CGG		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		85	319	0	0	0	1	0	85	319					A	140237378	G	A	140237378	3	1	79	1	0	0	0	0	1	0	0	0	11562	1116	39	1	1747	1	PCDHA10	5	140237378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	140237378	40677882	6554	16871											
PCDHA11	56138	broad.mit.edu	37	chr5	140249981	140249981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgcgggatgggggttcGccttctctgtgggccacggc	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1291-1293)tcG>tcA									134	143	140					5																	140249981		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249981G>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.1293G>A	5.37:g.140249981G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.S431S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1293G>A	CCDS47284.1																																																																																				0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		223	915	0	0	0	1	0	223	915					A	140249981	G	A	140249981	2	1	79	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHA11	5	140249981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12603	140249981	40665279	6555	16872											
PCDHA12	56137	broad.mit.edu	37	chr5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgtgcgggcggagcGcggagtgcagtatccacctg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.567																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(298-300)Gcg>Acg									115	131	126					5																	140255355		2203	4300	6503	SO:0001583	missense	0							g.chr5:140255355G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.298G>A	5.37:g.140255355G>A	ENSP00000381628:p.Ala100Thr					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.A100T	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	298	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.298G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085756	0.20390	.	.	ENSG00000251664	ENST00000398631	T	0.27104	1.69	5.28	-5.31	0.02730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	1	B;B	0.31026	0.078;0.304	B;B	0.15870	0.005;0.014	T	0.15407	-1.0438	9	0.36615	T	0.2	.	4.4904	0.11810	0.2499:0.3713:0.2996:0.0792	.	100;100	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	100	ENSP00000381628:A100T	ENSP00000381628:A100T	A	+	1	0	PCDHA12	140235539	0.000000	0.05858	0.012000	0.15200	0.765000	0.43378	-3.388000	0.00488	-0.988000	0.03489	-1.031000	0.02408	GCG		0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		53	1374	0	0	0	1	0	53	1374					A	140255355	G	A	140255355	3	1	79	1	0	0	0	0	1	0	0	0	11564	1087	38	1	300	1	PCDHA12	5	140255355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5374	140255355	40659905	6556	16873											
PCDHA12	56137	broad.mit.edu	37	chr5	140256686	140256686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgacgccggcgtgccGcctctgggcagcaacgtgac	16	16	1	1	rs375706181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	543	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCGCCTCTGGGCA	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1627-1629)ccG>ccA				G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89	98	95		,,,1629,,,,,,,,,,,,1629	-4.8	0.3	5		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,,,,,,,,,,,	,,,543/942,,,,,,,,,,,,543/793	140256686	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr5:140256686G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1629G>A	5.37:g.140256686G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.P543P	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1629G>A	CCDS47285.1																																																																																				0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		209	866	0	0	0	1	0	209	866					A	140256686	G	A	140256686	2	1	79	1	0	0	0	0	0	0	0	1	11564	1074	38	1		1	PCDHA12	5	140256686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	140256686	40658574	6557	16874											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcctcgcggaactttcGcttcctttccagccaccgcg	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000253807.2	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	56	Cadherin 1. {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)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACTTTCGCTTCCTTTCC	0.647																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(166-168)cGc>cAc									50	57	54					5																	140306644		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306644G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.167G>A	5.37:g.140306644G>A	ENSP00000253807:p.Arg56His					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.R56H	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	167	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.167G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688480	0.88639	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38240	1.15;1.15	5.29	4.36	0.52297	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55737	0.1939	M	0.77313	2.365	0.29161	N	0.877754	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.807	T	0.51957	-0.8639	9	0.48119	T	0.1	.	8.3053	0.32038	0.078:0.0:0.7657:0.1563	.	56;56	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	56	ENSP00000386356:R56H;ENSP00000253807:R56H	ENSP00000253807:R56H	R	+	2	0	PCDHAC1	140286828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.682000	0.61671	2.460000	0.83146	0.561000	0.74099	CGC		0.647	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		41	174	0	0	0	1	0	41	174					A	140306644	G	A	140306644	3	1	79	1	0	0	0	0	1	0	0	0	11574	1087	38	1	169	1	PCDHAC1	5	140306644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49958	140306644	40608616	6558	16875											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307056	140307056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaaagcactggatcgCgaacagcgcgccacccacct	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140307056C>T	ENST00000253807.2	+	1	579	c.579C>T	c.(577-579)cgC>cgT	p.R193R	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	193	Cadherin 2. {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)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGATCGCGAACAGCGCG	0.612																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(577-579)cgC>cgT									45	49	47					5																	140307056		2202	4300	6502	SO:0001819	synonymous_variant	0							g.chr5:140307056C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.579C>T	5.37:g.140307056C>T						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.R193R	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	579	+								Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.579C>T	CCDS4241.1																																																																																				0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		13	358	0	0	0	1	0	13	358					T	140307056	C	T	140307056	2	4	79	1	0	0	0	0	0	0	0	1	11574	755	27	1		1	PCDHAC1	5	140307056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	140307056	40608204	6559	16876											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcagccaatataggtgaGctccgtactgctcgcttagt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000253807.2	+	1	1851	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	617	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)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1849-1851)gaG>gaT									88	87	87					5																	140308328		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308328G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1851G>T	5.37:g.140308328G>T	ENSP00000253807:p.Glu617Asp					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.E617D	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1851	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1851G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845520	0.32606	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.73;0.73	5.95	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71108	0.3301	M	0.86097	2.795	0.25743	N	0.985136	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.64927	-0.6292	9	0.59425	D	0.04	.	13.826	0.63351	0.1851:0.0:0.8149:0.0	.	617;617	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	617	ENSP00000386356:E617D;ENSP00000253807:E617D	ENSP00000253807:E617D	E	+	3	2	PCDHAC1	140288512	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	1.002000	0.29796	0.139000	0.18822	-1.119000	0.02030	GAG		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		86	384	1	0	6.16549e-39	1	7.44507e-39	86	384					T	140308328	G	T	140308328	3	4	79	1	0	0	0	0	1	0	0	0	11574	962	34	3	1853	3	PCDHAC1	5	140308328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272	140308328	40606932	6560	16877											
PCDHB1	29930	broad.mit.edu	37	chr5	140431091	140431091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatctttgcaaaacagGcaagtgggatctcttctcat	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431091G>A	ENST00000306549.3	+	1	113	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAAACAGGCAAGTGGGAT	0.493																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(34-36)agG>agA									73	75	75					5																	140431091		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431091G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.36G>A	5.37:g.140431091G>A							p.R12R	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	113	+			12					Q2M257	Silent	SNP	ENST00000306549.3	37	c.36G>A	CCDS4243.1																																																																																				0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	285	0	0	0	1	0	6	285					A	140431091	G	A	140431091	2	1	79	1	0	0	0	0	0	0	0	1	11576	1194	42	2		2	PCDHB1	5	140431091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122763	140431091	40484169	6561	16878											
PCDHB1	29930	broad.mit.edu	37	chr5	140431560	140431560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttaacggtctccagAactacaccctgagtgccaat	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431560A>C	ENST00000306549.3	+	1	582	c.505A>C	c.(505-507)Aac>Cac	p.N169H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	169	Cadherin 2. {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)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTCTCCAGAACTACACCCT	0.567																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(505-507)Aac>Cac									50	51	51					5																	140431560		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431560A>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.505A>C	5.37:g.140431560A>C	ENSP00000307234:p.Asn169His						p.N169H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	582	+			169			Cadherin 2.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.505A>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271842	0.40194	.	.	ENSG00000171815	ENST00000306549	T	0.51325	0.71	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000086	T	0.46405	0.1391	M	0.61703	1.905	0.27636	N	0.947887	B	0.28128	0.201	B	0.27608	0.081	T	0.51608	-0.8684	10	0.66056	D	0.02	.	11.6893	0.51505	0.868:0.0:0.0:0.132	.	169	Q9Y5F3	PCDB1_HUMAN	H	169	ENSP00000307234:N169H	ENSP00000307234:N169H	N	+	1	0	PCDHB1	140411744	0.003000	0.15002	0.983000	0.44433	0.711000	0.40976	2.181000	0.42547	2.333000	0.79357	0.533000	0.62120	AAC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	313	0	0	0	1	0	6	313					C	140431560	A	C	140431560	3	2	79	1	0	0	0	0	1	0	0	0	11576	246	9	4	507	4	PCDHB1	5	140431560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	469	140431560	40483700	6562	16879											
PCDHB1	29930	broad.mit.edu	37	chr5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagccattgaaacatacGacattgacattcaagctaca	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	316	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)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACATACGACATTGACAT	0.463																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(946-948)Gac>Aac									116	113	114					5																	140432001		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432001G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.946G>A	5.37:g.140432001G>A	ENSP00000307234:p.Asp316Asn						p.D316N	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1023	+			316			Cadherin 3.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.946G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957179	0.53293	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	D	0.000133	T	0.01222	0.0040	N	0.01522	-0.82	0.36095	D	0.843752	D	0.53151	0.958	P	0.46275	0.51	T	0.74569	-0.3622	10	0.33940	T	0.23	.	13.4394	0.61104	0.1218:0.0:0.8782:0.0	.	316	Q9Y5F3	PCDB1_HUMAN	N	316	ENSP00000307234:D316N	ENSP00000307234:D316N	D	+	1	0	PCDHB1	140412185	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	GAC		0.463	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		81	407	0	0	0	1	0	81	407					A	140432001	G	A	140432001	3	1	79	1	0	0	0	0	1	0	0	0	11576	1058	37	1	948	1	PCDHB1	5	140432001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	140432001	40483259	6563	16880											
PCDHB2	56133	broad.mit.edu	37	chr5	140475112	140475112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcccagagtttgcaaaGctgctctatgaggtgcagat	11	9	1	3	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	246					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)			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)			AGTTTGCAAAGCTGCTCTATG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15063	0.0		0.0	False		,,,				2504	0.0					ENST00000194155.4																			0				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						c.(736-738)aaG>aaA				G		13,4393	20.2+/-43.8	0,13,2190	57	59	58		738	0.4	0.5	5	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PCDHB2	NM_018936.2		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		246/799	140475112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475112G>A	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.738G>A	5.37:g.140475112G>A							p.K246K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	886	+			246					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.738G>A	CCDS4244.1																																																																																				0.552	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		47	251	0	0	0	1	0	47	251					A	140475112	G	A	140475112	2	1	79	1	0	0	0	0	0	0	0	1	11584	962	34	2		2	PCDHB2	5	140475112	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43111	140475112	40440148	6564	16881											
PCDHB2	56133	broad.mit.edu	37	chr5	140475722	140475722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	5	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475722G>A	ENST00000194155.4	+	1	1496	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	450	Cadherin 4. {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)			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)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000194155.4																			0				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						c.(1348-1350)Gcc>Acc									126	118	120					5																	140475722		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475722G>A	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.1348G>A	5.37:g.140475722G>A	ENSP00000194155:p.Ala450Thr						p.A450T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1496	+			450			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1348G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681742	0.14907	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	5.11	0.557	0.17260	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.05364	0.0142	M	0.85099	2.735	0.32974	D	0.522764	D	0.55605	0.972	B	0.34652	0.187	T	0.34875	-0.9811	9	0.56958	D	0.05	.	6.9348	0.24461	0.0811:0.5668:0.241:0.1111	.	450	Q9Y5E7	PCDB2_HUMAN	T	450	ENSP00000194155:A450T	ENSP00000194155:A450T	A	+	1	0	PCDHB2	140455906	0.000000	0.05858	0.973000	0.42090	0.005000	0.04900	-0.599000	0.05700	0.236000	0.21180	-1.066000	0.02275	GCC		0.597	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		79	1145	0	0	0	1	0	79	1145					A	140475722	G	A	140475722	3	1	79	1	0	0	0	0	1	0	0	0	11584	1087	38	1	1350	1	PCDHB2	5	140475722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	140475722	40439538	6565	16882											
PCDHB2	56133	broad.mit.edu	37	chr5	140475757	140475757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacctcctacaccctgttCgtccgcgagaacaacagccc	6	18	0	1	rs375371663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475757C>T	ENST00000194155.4	+	1	1531	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			ACACCCTGTTCGTCCGCGAGA	0.632																																						ENST00000194155.4																			0				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						c.(1381-1383)ttC>ttT									87	87	87					5																	140475757		2203	4296	6499	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475757C>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.1383C>T	5.37:g.140475757C>T							p.F461F	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1531	+			461			Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1383C>T	CCDS4244.1																																																																																				0.632	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		176	971	0	0	0	1	0	176	971					T	140475757	C	T	140475757	2	4	79	1	0	0	0	0	0	0	0	1	11584	883	31	1		1	PCDHB2	5	140475757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	140475757	40439503	6566	16883											
PCDHB3	56132	broad.mit.edu	37	chr5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgcttctctttgttTttctgggagggtctctggct	11	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	20					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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTTTGTTTTTCTGGGAGG	0.507																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(58-60)Ttt>Gtt									84	95	91					5																	140480291		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480291T>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.58T>G	5.37:g.140480291T>G	ENSP00000231130:p.Phe20Val					AC005754.7_ENST00000607216.1_RNA	p.F20V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	58	+			20					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.58T>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979876	0.34942	.	.	ENSG00000113205	ENST00000231130	T	0.47869	0.83	4.77	0.509	0.16977	.	.	.	.	.	T	0.32496	0.0831	L	0.37630	1.12	0.19300	N	0.999973	B	0.18461	0.028	B	0.12156	0.007	T	0.28299	-1.0048	9	0.56958	D	0.05	.	3.4948	0.07650	0.2739:0.2045:0.0:0.5217	.	20	Q9Y5E6	PCDB3_HUMAN	V	20	ENSP00000231130:F20V	ENSP00000231130:F20V	F	+	1	0	PCDHB3	140460475	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	0.186000	0.16978	0.243000	0.21327	-0.274000	0.10170	TTT		0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		75	278	0	0	0	1	0	75	278					G	140480291	T	G	140480291	3	3	79	1	0	0	0	0	1	0	0	0	11585	1841	64	4	60	4	PCDHB3	5	140480291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4534	140480291	40434969	6567	16884											
PCDHB3	56132	broad.mit.edu	37	chr5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agataaacatccaggtcttaGatataaacgacaatgcacca	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	234	Cadherin 2. {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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCTTAGATATAAACGA	0.547																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(700-702)Gat>Aat									47	50	49					5																	140480933		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480933G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.700G>A	5.37:g.140480933G>A	ENSP00000231130:p.Asp234Asn					AC005754.7_ENST00000607216.1_RNA	p.D234N	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	700	+			234			Cadherin 2.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.700G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308185	0.81247	.	.	ENSG00000113205	ENST00000231130	T	0.74209	-0.82	4.93	4.93	0.64822	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90242	0.6949	H	0.94264	3.515	0.50313	D	0.999865	D	0.89917	1.0	D	0.97110	1.0	D	0.93048	0.6463	9	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	234	Q9Y5E6	PCDB3_HUMAN	N	234	ENSP00000231130:D234N	ENSP00000231130:D234N	D	+	1	0	PCDHB3	140461117	1.000000	0.71417	0.800000	0.32199	0.536000	0.34869	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAT		0.547	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		81	300	0	0	0	1	0	81	300					A	140480933	G	A	140480933	3	1	79	1	0	0	0	0	1	0	0	0	11585	942	33	2	702	2	PCDHB3	5	140480933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	642	140480933	40434327	6568	16885											
PCDHB3	56132	broad.mit.edu	37	chr5	140481073	140481074	+	Frame_Shift_Ins	INS	-	-	T													ttgggacaatatcatatgcaINSttttttcatgcttctgaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140481073_140481074insT	ENST00000231130.2	+	1	840_841	c.840_841insT	c.(841-843)tttfs	p.F281fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	281	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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCATATGCATTTTTTCATGC	0.366																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(838-843)gcttttfs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481073_140481074insT	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.846dupT	5.37:g.140481079_140481079dupT	ENSP00000231130:p.Phe281fs					AC005754.7_ENST00000607216.1_RNA	p.AF280fs	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	840_841	+			280			Cadherin 3.		B2R8P2	Frame_Shift_Ins	INS	ENST00000231130.2	37	c.840_841insT	CCDS4245.1																																																																																				0.366	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		70	348						70	348	---	---	---	---	T	140481074	-	T	140481073	7	5	79	1	0	1	1	0	0	0	0	0	11585	204	8	0	842	0	PCDHB3	5	140481073	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	140	140481073	40434187	6569	16886											
PCDHB3	56132	broad.mit.edu	37	chr5	140482389	140482389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcaggaggagcagggCggcctcggtgggtcgctgct	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	ENST00000231130.2	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	719					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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.667																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2155-2157)gCg>gTg									37	42	40					5																	140482389		2112	4096	6208	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482389C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2156C>T	5.37:g.140482389C>T	ENSP00000231130:p.Ala719Val						p.A719V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2156	+			719					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2156C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771873	0.69992	.	.	ENSG00000113205	ENST00000231130	T	0.17528	2.27	4.16	1.83	0.25207	.	.	.	.	.	T	0.31606	0.0802	M	0.87038	2.855	0.23346	N	0.997868	D	0.55800	0.973	P	0.49477	0.612	T	0.15607	-1.0431	9	0.72032	D	0.01	.	8.4355	0.32784	0.2265:0.6309:0.1425:0.0	.	719	Q9Y5E6	PCDB3_HUMAN	V	719	ENSP00000231130:A719V	ENSP00000231130:A719V	A	+	2	0	PCDHB3	140462573	0.614000	0.27017	0.089000	0.20774	0.145000	0.21501	1.032000	0.30178	0.826000	0.34661	0.485000	0.47835	GCG		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		190	921	0	0	0	1	0	190	921					T	140482389	C	T	140482389	3	4	79	1	0	0	0	0	1	0	0	0	11585	768	27	1	2158	1	PCDHB3	5	140482389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1316	140482389	40432871	6570	16887											
PCDHB4	56131	broad.mit.edu	37	chr5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcgcctcagaccgcGgttctccggctttgagcagc	15	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	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)			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)			CTCAGACCGCGGTTCTCCGGC	0.662																																						ENST00000194152.1																			0				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						c.(1606-1608)Ggt>Agt									51	58	56					5																	140503186		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503186G>A	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.1606G>A	5.37:g.140503186G>A	ENSP00000194152:p.Gly536Ser						p.G536S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1606	+			536			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1606G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT		0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		128	561	0	0	0	1	0	128	561					A	140503186	G	A	140503186	3	1	79	1	0	0	0	0	1	0	0	0	11586	1116	39	1	1608	1	PCDHB4	5	140503186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20797	140503186	40412074	6571	16888											
PCDHB4	56131	broad.mit.edu	37	chr5	140503392	140503392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgcctggctgtcgtaccaGctgctcaaggccacggagcc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	ENST00000194152.1	+	1	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	604	Cadherin 6. {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)			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)			TGTCGTACCAGCTGCTCAAGG	0.716																																						ENST00000194152.1																			0				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						c.(1810-1812)caG>caT									17	17	17					5																	140503392		2058	4070	6128	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503392G>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.1812G>T	5.37:g.140503392G>T	ENSP00000194152:p.Gln604His						p.Q604H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1812	+			604			Cadherin 6.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1812G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206300	0.39003	.	.	ENSG00000081818	ENST00000194152	T	0.52983	0.64	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40791	0.1131	N	0.05534	-0.03	0.32754	N	0.506063	D	0.57257	0.979	D	0.67382	0.951	T	0.50915	-0.8771	9	0.54805	T	0.06	.	3.1232	0.06398	0.098:0.1751:0.5458:0.1811	.	604	Q9Y5E5	PCDB4_HUMAN	H	604	ENSP00000194152:Q604H	ENSP00000194152:Q604H	Q	+	3	2	PCDHB4	140483576	0.009000	0.17119	1.000000	0.80357	0.994000	0.84299	-0.256000	0.08757	2.235000	0.73313	0.485000	0.47835	CAG		0.716	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		105	582	1	0	3.36245e-48	1	4.14781e-48	105	582					T	140503392	G	T	140503392	3	4	79	1	0	0	0	0	1	0	0	0	11586	962	34	3	1814	3	PCDHB4	5	140503392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	140503392	40411868	6572	16889											
PCDHB5	26167	broad.mit.edu	37	chr5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggagatggcagaaaatAcccagagctggtgctggaca	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCAGAAAATACCCAGAGCTG	0.552																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(571-573)tAc>tGc									74	74	74					5																	140515588		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515588A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.572A>G	5.37:g.140515588A>G	ENSP00000231134:p.Tyr191Cys						p.Y191C	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	789	+			191			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.572A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813791	0.50527	.	.	ENSG00000113209	ENST00000231134	T	0.20598	2.06	5.18	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55433	0.1920	H	0.95114	3.625	0.25307	N	0.989237	D	0.71674	0.998	D	0.72075	0.976	T	0.53208	-0.8471	9	0.87932	D	0	.	9.4626	0.38794	0.7278:0.0:0.0:0.2722	.	191	Q9Y5E4	PCDB5_HUMAN	C	191	ENSP00000231134:Y191C	ENSP00000231134:Y191C	Y	+	2	0	PCDHB5	140495772	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.136000	0.10405	2.086000	0.62901	0.454000	0.30748	TAC		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		98	456	0	0	0	1	0	98	456					G	140515588	A	G	140515588	3	3	79	1	0	0	0	0	1	0	0	0	11587	391	14	4	574	4	PCDHB5	5	140515588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12196	140515588	40399672	6573	16890											
PCDHB5	26167	broad.mit.edu	37	chr5	140516480	140516480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccaggtcacctactcGctgctgccgccccagaaccc	8	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.647																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1462-1464)tcG>tcA									101	101	101					5																	140516480		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516480G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1464G>A	5.37:g.140516480G>A							p.S488S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1681	+			488			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1464G>A	CCDS4247.1																																																																																				0.647	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		212	888	0	0	0	1	0	212	888					A	140516480	G	A	140516480	2	1	79	1	0	0	0	0	0	0	0	1	11587	1074	38	1		1	PCDHB5	5	140516480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	140516480	40398780	6574	16891											
PCDHB5	26167	broad.mit.edu	37	chr5	140516509	140516509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagaacccacacctgcGcctcgcctccctggtctcca	7	22	1	1	rs376267566	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516509G>A	ENST00000231134.5	+	1	1710	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACACCTGCGCCTCGCCTCC	0.667																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1492-1494)cGc>cAc									111	110	111					5																	140516509		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516509G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1493G>A	5.37:g.140516509G>A	ENSP00000231134:p.Arg498His						p.R498H	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1710	+			498			Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1493G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042113	0.07452	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.01767	4.65	4.44	1.47	0.22746	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01287	0.0042	L	0.31420	0.93	0.09310	N	1	P	0.43024	0.798	B	0.32149	0.141	T	0.50833	-0.8781	9	0.87932	D	0	.	4.3418	0.11113	0.1527:0.4683:0.2975:0.0815	.	498	Q9Y5E4	PCDB5_HUMAN	H	498;282	ENSP00000231134:R498H	ENSP00000231134:R498H	R	+	2	0	PCDHB5	140496693	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.024000	0.13555	0.067000	0.16545	-0.475000	0.04921	CGC		0.667	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		210	864	0	0	0	1	0	210	864					A	140516509	G	A	140516509	3	1	79	1	0	0	0	0	1	0	0	0	11587	1087	38	1	1495	1	PCDHB5	5	140516509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	140516509	40398751	6575	16892											
PCDHB5	26167	broad.mit.edu	37	chr5	140516822	140516822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S602S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.S602S(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1804-1806)tcG>tcA									36	40	38					5																	140516822		2058	4034	6092	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516822G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1806G>A	5.37:g.140516822G>A							p.S602S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2023	+			602			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1806G>A	CCDS4247.1																																																																																				0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		26	698	0	0	0	1	0	26	698					A	140516822	G	A	140516822	2	1	79	1	0	0	0	0	0	0	0	1	11587	1132	40	1		1	PCDHB5	5	140516822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	313	140516822	40398438	6576	16893											
PCDHB5	26167	broad.mit.edu	37	chr5	140517107	140517107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcattggcctcggtgtcGtcgctcttcctcttttcggt	12	12	2	0	rs61745780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	697					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.706																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2089-2091)tcG>tcA																																						SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517107G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2091G>A	5.37:g.140517107G>A							p.S697S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2308	+			697					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2091G>A	CCDS4247.1																																																																																				0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		47	1221	0	0	0	1	0	47	1221					A	140517107	G	A	140517107	2	1	79	1	0	0	0	0	0	0	0	1	11587	1132	40	1		1	PCDHB5	5	140517107	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	140517107	40398153	6577	16894											
PCDHB5	26167	broad.mit.edu	37	chr5	140517233	140517233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatctggtggacgtgagCggcaccgggaccctatccca	15	13	1	1	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	739					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTGAGCGGCACCGGGA	0.642																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2215-2217)agC>agT				C		0,4406		0,0,2203	88	107	101		2217	0	0.1	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PCDHB5	NM_015669.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		739/796	140517233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517233C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2217C>T	5.37:g.140517233C>T							p.S739S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2434	+			739					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2217C>T	CCDS4247.1																																																																																				0.642	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		203	1099	0	0	0	1	0	203	1099					T	140517233	C	T	140517233	2	4	79	1	0	0	0	0	0	0	0	1	11587	767	27	1		1	PCDHB5	5	140517233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	140517233	40398027	6578	16895											
PCDHB6	56130	broad.mit.edu	37	chr5	140530394	140530394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcacccgcaatcgcagcGaaggcaggaagttcccggag	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530394G>A	ENST00000231136.1	+	1	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E50K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	186	Cadherin 2. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCGCAGCGAAGGCAGGAA	0.582																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(556-558)Gaa>Aaa									115	120	118					5																	140530394		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530394G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.556G>A	5.37:g.140530394G>A	ENSP00000231136:p.Glu186Lys					PCDHB6_ENST00000543635.1_Missense_Mutation_p.E50K	p.E186K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	556	+			186			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.556G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870450	0.51588	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.69561	-0.41;2.11	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66197	0.2765	M	0.62016	1.91	0.20563	N	0.999889	B	0.15473	0.013	B	0.21917	0.037	T	0.61501	-0.7050	9	0.87932	D	0	.	13.4005	0.60881	0.0794:0.0:0.9206:0.0	.	186	Q9Y5E3	PCDB6_HUMAN	K	50;186	ENSP00000438466:E50K;ENSP00000231136:E186K	ENSP00000231136:E186K	E	+	1	0	PCDHB6	140510578	0.008000	0.16893	0.785000	0.31869	0.968000	0.65278	0.624000	0.24462	2.316000	0.78162	0.561000	0.74099	GAA		0.582	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	947	0	0	0	1	0	14	947					A	140530394	G	A	140530394	3	1	79	1	0	0	0	0	1	0	0	0	11588	1059	37	1	558	1	PCDHB6	5	140530394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13161	140530394	40384866	6579	16896											
PCDHB6	56130	broad.mit.edu	37	chr5	140530486	140530486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgatcgcgctggatggCgggtctccgccccggtcagg	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530486C>T	ENST00000231136.1	+	1	648	c.648C>T	c.(646-648)ggC>ggT	p.G216G	PCDHB6_ENST00000543635.1_Silent_p.G80G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	216	Cadherin 2. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGATGGCGGGTCTCCGC	0.592																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(646-648)ggC>ggT									49	54	52					5																	140530486		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530486C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.648C>T	5.37:g.140530486C>T						PCDHB6_ENST00000543635.1_Silent_p.G80G	p.G216G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	648	+			216			Cadherin 2.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.648C>T	CCDS4248.1																																																																																				0.592	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		86	413	0	0	0	1	0	86	413					T	140530486	C	T	140530486	2	4	79	1	0	0	0	0	0	0	0	1	11588	755	27	1		1	PCDHB6	5	140530486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	140530486	40384774	6580	16897											
PCDHB6	56130	broad.mit.edu	37	chr5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctttctactaagacCttccgtggagaatttctaca	5	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	393	Cadherin 4. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACTAAGACCTTCCGTGGAG	0.468																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1177-1179)cCt>cAt									121	123	122					5																	140531016		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531016C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1178C>A	5.37:g.140531016C>A	ENSP00000231136:p.Pro393His					PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	p.P393H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1178	+			393			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1178C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942553	0.18281	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01725	4.67;4.67	4.59	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12774	0.0310	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05666	-1.0871	9	0.87932	D	0	.	6.5296	0.22320	0.1459:0.6952:0.0:0.159	.	393	Q9Y5E3	PCDB6_HUMAN	H	257;393;178	ENSP00000438466:P257H;ENSP00000231136:P393H	ENSP00000231136:P393H	P	+	2	0	PCDHB6	140511200	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	1.053000	0.40415	-0.219000	0.12488	CCT		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		151	670	1	0	1.73214e-63	1	2.18662e-63	151	670					A	140531016	C	A	140531016	3	1	79	1	0	0	0	0	1	0	0	0	11588	681	24	3	1180	3	PCDHB6	5	140531016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	140531016	40384244	6581	16898											
PCDHB6	56130	broad.mit.edu	37	chr5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcggccccggcccaaGcccaggccgactctctcacc	11	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	679					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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAAGCCCAGGCCGA	0.697																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2035-2037)Gcc>Tcc									67	73	71					5																	140531873		2189	4274	6463	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531873G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2035G>T	5.37:g.140531873G>T	ENSP00000231136:p.Ala679Ser					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	p.A679S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2035	+			679					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2035G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837250	0.16891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.69	4.55	1.51	0.23008	.	.	.	.	.	T	0.37999	0.1024	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.42832	-0.9428	9	0.66056	D	0.02	.	1.634	0.02738	0.2053:0.1642:0.4627:0.1677	.	679	Q9Y5E3	PCDB6_HUMAN	S	543;679	ENSP00000438466:A543S;ENSP00000231136:A679S	ENSP00000231136:A679S	A	+	1	0	PCDHB6	140512057	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.139000	0.16036	0.397000	0.25310	0.556000	0.70494	GCC		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		185	848	1	0	3.14303e-62	1	3.96095e-62	185	848					T	140531873	G	T	140531873	3	4	79	1	0	0	0	0	1	0	0	0	11588	971	34	3	2037	3	PCDHB6	5	140531873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	857	140531873	40383387	6582	16899											
PCDHB7	56129	broad.mit.edu	37	chr5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacacattaactattcaggCcaaagacggcggcgggcttt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	321	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATTCAGGCCAAAGACGGC	0.423																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(961-963)gCc>gTc									63	67	66					5																	140553378		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553378C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.962C>T	5.37:g.140553378C>T	ENSP00000231137:p.Ala321Val						p.A321V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1136	+			321			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.962C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165954	0.57476	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.73363	-0.74	4.61	3.66	0.41972	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.84306	0.5443	M	0.73217	2.22	0.43214	D	0.995083	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	9	0.87932	D	0	.	14.0288	0.64601	0.0:0.8476:0.1524:0.0	.	321	Q9Y5E2	PCDB7_HUMAN	V	321;104	ENSP00000231137:A321V	ENSP00000231137:A321V	A	+	2	0	PCDHB7	140533562	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.882000	0.63121	2.244000	0.73946	0.650000	0.86243	GCC		0.423	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		73	309	0	0	0	1	0	73	309					T	140553378	C	T	140553378	3	4	79	1	0	0	0	0	1	0	0	0	11589	739	26	2	964	2	PCDHB7	5	140553378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21505	140553378	40361882	6583	16900											
PCDHB7	56129	broad.mit.edu	37	chr5	140553895	140553895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctactccctgctgccgtcCcaggacccgcacctgcccct	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	493	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1477-1479)tcC>tcT									94	94	94					5																	140553895		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553895C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1479C>T	5.37:g.140553895C>T							p.S493S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1653	+			493			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1479C>T	CCDS4249.1																																																																																				0.667	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		141	711	0	0	0	1	0	141	711					T	140553895	C	T	140553895	2	4	79	1	0	0	0	0	0	0	0	1	11589	610	22	2		2	PCDHB7	5	140553895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	140553895	40361365	6584	16901											
PCDHB7	56129	broad.mit.edu	37	chr5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	554	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1660-1662)Gcc>Acc																																						SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554076G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1660G>A	5.37:g.140554076G>A	ENSP00000231137:p.Ala554Thr						p.A554T	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1834	+			554			Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1660G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.793689	0.31685	.	.	ENSG00000113212	ENST00000231137	T	0.03181	4.02	4.3	3.38	0.38709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.12527	0.23	0.23661	N	0.997171	B	0.25850	0.136	B	0.21546	0.035	T	0.45220	-0.9276	9	0.40728	T	0.16	.	12.4687	0.55775	0.0:0.3241:0.6759:0.0	.	554	Q9Y5E2	PCDB7_HUMAN	T	554	ENSP00000231137:A554T	ENSP00000231137:A554T	A	+	1	0	PCDHB7	140534260	0.000000	0.05858	0.769000	0.31535	0.934000	0.57294	0.692000	0.25482	0.853000	0.35312	0.449000	0.29647	GCC		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		108	485	0	0	0	1	0	108	485					A	140554076	G	A	140554076	3	1	79	1	0	0	0	0	1	0	0	0	11589	1087	38	1	1662	1	PCDHB7	5	140554076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	140554076	40361184	6585	16902											
PCDHB7	56129	broad.mit.edu	37	chr5	140554408	140554408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtgctcctggtggaCggcttctcccagccctacct	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.706																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1990-1992)gaC>gaT									40	64	56					5																	140554408		2178	4273	6451	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554408C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1992C>T	5.37:g.140554408C>T							p.D664D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2166	+			664			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1992C>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		98	1062	0	0	0	1	0	98	1062					T	140554408	C	T	140554408	2	4	79	1	0	0	0	0	0	0	0	1	11589	535	19	1		1	PCDHB7	5	140554408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	140554408	40360852	6586	16903											
PCDHB7	56129	broad.mit.edu	37	chr5	140554677	140554677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtatgaggtgtgcctgaCtggaggctccgggacaaatg	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554677C>A	ENST00000231137.3	+	1	2435	c.2261C>A	c.(2260-2262)aCt>aAt	p.T754N	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGCCTGACTGGAGGCTCC	0.567																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2260-2262)aCt>aAt									90	136	120					5																	140554677		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554677C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2261C>A	5.37:g.140554677C>A	ENSP00000231137:p.Thr754Asn						p.T754N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2435	+			754					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2261C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230899	0.39399	.	.	ENSG00000113212	ENST00000231137	T	0.16743	2.32	4.33	-6.3	0.02007	.	.	.	.	.	T	0.22551	0.0544	M	0.92317	3.295	0.09310	N	1	B	0.29590	0.25	B	0.31337	0.128	T	0.31251	-0.9950	9	0.66056	D	0.02	.	2.1551	0.03810	0.1966:0.4673:0.1354:0.2008	.	754	Q9Y5E2	PCDB7_HUMAN	N	754	ENSP00000231137:T754N	ENSP00000231137:T754N	T	+	2	0	PCDHB7	140534861	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	0.040000	0.13905	-1.844000	0.01178	0.455000	0.32223	ACT		0.567	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		22	1201	1	0	3.70931e-20	1	4.15183e-20	22	1201					A	140554677	C	A	140554677	3	1	79	1	0	0	0	0	1	0	0	0	11589	565	20	3	2263	3	PCDHB7	5	140554677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	140554677	40360583	6587	16904											
PCDHB7	56129	broad.mit.edu	37	chr5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggacaaatgagttcaagtTtctgaaaccaattatcccca	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2290-2292)tTt>tAt									83	123	109					5																	140554707		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554707T>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2291T>A	5.37:g.140554707T>A	ENSP00000231137:p.Phe764Tyr						p.F764Y	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2465	+			764					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2291T>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314917	0.40996	.	.	ENSG00000113212	ENST00000231137	T	0.19105	2.17	4.33	3.14	0.36123	.	.	.	.	.	T	0.44498	0.1296	M	0.87900	2.915	0.35724	D	0.817379	D	0.63046	0.992	P	0.60415	0.874	T	0.61491	-0.7052	9	0.72032	D	0.01	.	10.0259	0.42070	0.0:0.0873:0.0:0.9127	.	764	Q9Y5E2	PCDB7_HUMAN	Y	764	ENSP00000231137:F764Y	ENSP00000231137:F764Y	F	+	2	0	PCDHB7	140534891	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	5.748000	0.68697	1.711000	0.51337	0.374000	0.22700	TTT		0.507	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		91	906	0	0	0	1	0	91	906					A	140554707	T	A	140554707	3	1	79	1	0	0	0	0	1	0	0	0	11589	1841	64	5	2293	5	PCDHB7	5	140554707	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	140554707	40360553	6588	16905											
PCDHB8	56128	broad.mit.edu	37	chr5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgaaggtctctgccacgGatgtagacacaggagtcaac	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	269	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(805-807)Gat>Aat									190	256	233					5																	140558420		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558420G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.805G>A	5.37:g.140558420G>A	ENSP00000239444:p.Asp269Asn						p.D269N	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1050	+			269			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.805G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416301	0.42918	.	.	ENSG00000120322	ENST00000239444	T	0.74526	-0.85	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91566	0.7336	H	0.98351	4.21	0.36061	D	0.841464	D	0.89917	1.0	D	0.97110	1.0	D	0.97214	0.9873	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	269	Q9UN66	PCDB8_HUMAN	N	269	ENSP00000239444:D269N	ENSP00000239444:D269N	D	+	1	0	PCDHB8	140538604	1.000000	0.71417	0.065000	0.19835	0.105000	0.19272	9.768000	0.98965	1.911000	0.55334	0.585000	0.79938	GAT		0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		167	1595	0	0	0	1	0	167	1595					A	140558420	G	A	140558420	3	1	79	1	0	0	0	0	1	0	0	0	11590	1174	41	2	807	2	PCDHB8	5	140558420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3713	140558420	40356840	6589	16906											
PCDHB8	56128	broad.mit.edu	37	chr5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacacatctcaatatgaCcgtgctggtgtcggacgtca	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1315-1317)aCc>aTc									197	246	230					5																	140558931		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558931C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1316C>T	5.37:g.140558931C>T	ENSP00000239444:p.Thr439Ile						p.T439I	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1561	+			439			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1316C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	3.226	-0.158381	0.06544	.	.	ENSG00000120322	ENST00000239444	T	0.03358	3.96	4.26	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.64630	1.985	0.09310	N	1	B	0.24618	0.107	B	0.36922	0.236	T	0.36359	-0.9751	9	0.56958	D	0.05	.	4.0224	0.09672	0.1624:0.5888:0.158:0.0907	.	439	Q9UN66	PCDB8_HUMAN	I	439	ENSP00000239444:T439I	ENSP00000239444:T439I	T	+	2	0	PCDHB8	140539115	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-1.353000	0.02617	0.778000	0.33520	0.305000	0.20034	ACC		0.567	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		168	1741	0	0	0	1	0	168	1741					T	140558931	C	T	140558931	3	4	79	1	0	0	0	0	1	0	0	0	11590	507	18	2	1318	2	PCDHB8	5	140558931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	140558931	40356329	6590	16907											
PCDHB8	56128	broad.mit.edu	37	chr5	140559326	140559326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctgcagaatggctccGcgccctgcaccgagctggtg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	ENST00000239444.2	+	1	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGGCTCCGCGCCCTGCAC	0.716																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1711-1713)Gcg>Acg									12	21	18					5																	140559326		2174	4257	6431	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559326G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1711G>A	5.37:g.140559326G>A	ENSP00000239444:p.Ala571Thr						p.A571T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1956	+			571			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1711G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558443	0.27827	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.2	0.27929	Cadherin-like (1);	.	.	.	.	T	0.42607	0.1210	N	0.21324	0.655	0.09310	N	1	B	0.30211	0.273	B	0.31751	0.135	T	0.38824	-0.9643	9	0.66056	D	0.02	.	8.146	0.31113	0.0:0.1345:0.4702:0.3953	.	571	Q9UN66	PCDB8_HUMAN	T	571	ENSP00000239444:A571T	ENSP00000239444:A571T	A	+	1	0	PCDHB8	140539510	0.000000	0.05858	0.557000	0.28306	0.601000	0.36947	-0.187000	0.09656	0.735000	0.32537	0.298000	0.19748	GCG		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		76	643	0	0	0	1	0	76	643					A	140559326	G	A	140559326	3	1	79	1	0	0	0	0	1	0	0	0	11590	1087	38	1	1713	1	PCDHB8	5	140559326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395	140559326	40355934	6591	16908											
PCDHB8	56128	broad.mit.edu	37	chr5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggacggcttctcccaGccctacctgccgcttccgga	11	17	1	0	rs200922876		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	669	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2005-2007)caG>caT									44	45	44					5																	140559622		2180	4257	6437	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559622G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2007G>T	5.37:g.140559622G>T	ENSP00000239444:p.Gln669His						p.Q669H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2252	+			669			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2007G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144642	0.21288	.	.	ENSG00000120322	ENST00000239444	T	0.48836	0.8	4.22	2.2	0.27929	Cadherin (2);	.	.	.	.	T	0.44953	0.1318	M	0.67700	2.07	0.26343	N	0.977333	P	0.40731	0.728	B	0.41764	0.366	T	0.47471	-0.9115	9	0.87932	D	0	.	4.5376	0.12042	0.0925:0.2229:0.5509:0.1337	.	669	Q9UN66	PCDB8_HUMAN	H	669	ENSP00000239444:Q669H	ENSP00000239444:Q669H	Q	+	3	2	PCDHB8	140539806	0.000000	0.05858	1.000000	0.80357	0.347000	0.29111	-0.034000	0.12225	1.915000	0.55452	0.298000	0.19748	CAG		0.682	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		126	520	1	0	3.36637e-57	1	4.21541e-57	126	520					T	140559622	G	T	140559622	3	4	79	1	0	0	0	0	1	0	0	0	11590	962	34	3	2009	3	PCDHB8	5	140559622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	140559622	40355638	6592	16909											
PCDHB10	56126	broad.mit.edu	37	chr5	140573455	140573455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacggtcctggtctccgacGtcaatgacaacgcccccgcc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	ENST00000239446.4	+	1	1514	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1330-1332)Gtc>Atc									70	68	68					5																	140573455		2203	4293	6496	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573455G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1330G>A	5.37:g.140573455G>A	ENSP00000239446:p.Val444Ile						p.V444I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1514	+			444			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1330G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310575	0.10733	.	.	ENSG00000120324	ENST00000239446	T	0.01258	5.09	3.22	0.279	0.15677	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00967	0.0032	N	0.20445	0.575	0.23468	N	0.997613	B	0.21905	0.062	B	0.18263	0.021	T	0.46470	-0.9189	9	0.06099	T	0.92	.	8.2294	0.31589	0.3138:0.0:0.6862:0.0	.	444	Q9UN67	PCDBA_HUMAN	I	444	ENSP00000239446:V444I	ENSP00000239446:V444I	V	+	1	0	PCDHB10	140553639	0.090000	0.21635	0.999000	0.59377	0.858000	0.48976	0.358000	0.20216	0.194000	0.20326	-0.274000	0.10170	GTC		0.587	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		140	498	0	0	0	1	0	140	498					A	140573455	G	A	140573455	3	1	79	1	0	0	0	0	1	0	0	0	11577	1145	40	1	1332	1	PCDHB10	5	140573455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13833	140573455	40341805	6593	16910											
PCDHB10	56126	broad.mit.edu	37	chr5	140573467	140573467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	5	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	ENST00000239446.4	+	1	1526	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1342-1344)Gcc>Acc									61	60	61					5																	140573467		2203	4292	6495	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573467G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1342G>A	5.37:g.140573467G>A	ENSP00000239446:p.Ala448Thr						p.A448T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1526	+			448			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1342G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971885	0.34754	.	.	ENSG00000120324	ENST00000239446	T	0.03181	4.02	3.22	2.23	0.28157	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06962	0.0177	M	0.84433	2.695	0.35283	D	0.781521	B	0.27823	0.19	B	0.21917	0.037	T	0.03453	-1.1035	9	0.56958	D	0.05	.	7.6598	0.28396	0.0:0.2886:0.5556:0.1558	.	448	Q9UN67	PCDBA_HUMAN	T	448	ENSP00000239446:A448T	ENSP00000239446:A448T	A	+	1	0	PCDHB10	140553651	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	-0.562000	0.05950	1.819000	0.53055	0.549000	0.68633	GCC		0.597	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		105	603	0	0	0	1	0	105	603					A	140573467	G	A	140573467	3	1	79	1	0	0	0	0	1	0	0	0	11577	1087	38	1	1344	1	PCDHB10	5	140573467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	140573467	40341793	6594	16911											
PCDHB10	56126	broad.mit.edu	37	chr5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcacaggctcgtggtgCttgtcaaggacaatggcgag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGTGGTGCTTGTCAAGGA	0.692																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1927-1929)Ctt>Att									23	24	23					5																	140574052		2049	3906	5955	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574052C>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1927C>A	5.37:g.140574052C>A	ENSP00000239446:p.Leu643Ile						p.L643I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2111	+			643			Cadherin 6.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1927C>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139023	0.21205	.	.	ENSG00000120324	ENST00000239446	T	0.59638	0.25	3.03	2.14	0.27477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.50847	1.595	0.09310	N	1	P	0.39480	0.675	P	0.46585	0.521	T	0.51639	-0.8680	9	0.62326	D	0.03	.	1.7846	0.03039	0.1832:0.4151:0.2742:0.1275	.	643	Q9UN67	PCDBA_HUMAN	I	643	ENSP00000239446:L643I	ENSP00000239446:L643I	L	+	1	0	PCDHB10	140554236	0.000000	0.05858	0.997000	0.53966	0.145000	0.21501	-1.908000	0.01587	1.704000	0.51252	0.298000	0.19748	CTT		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		95	165	1	0	8.16033e-55	1	1.01916e-54	95	165					A	140574052	C	A	140574052	3	1	79	1	0	0	0	0	1	0	0	0	11577	797	28	3	1929	3	PCDHB10	5	140574052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585	140574052	40341208	6595	16912											
PCDHB12	56124	broad.mit.edu	37	chr5	140590474	140590474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgctcctggtggacggCttctcccagccctacctgcc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	ENST00000239450.2	+	1	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_ENST00000541609.1_Silent_p.G328G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	665	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)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.706																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1993-1995)ggC>ggA									32	36	35					5																	140590474		2169	4238	6407	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590474C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1995C>A	5.37:g.140590474C>A						PCDHB12_ENST00000541609.1_Silent_p.G328G	p.G665G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2184	+			665			Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1995C>A	CCDS4254.1																																																																																				0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		134	589	1	0	7.51503e-75	1	9.57856e-75	134	589					A	140590474	C	A	140590474	2	1	79	1	0	0	0	0	0	0	0	1	11579	784	28	3		3	PCDHB12	5	140590474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16422	140590474	40324786	6596	16913											
PCDHB12	56124	broad.mit.edu	37	chr5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaggacatctggtggAcgtgagtggcaccgggaccc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	738					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)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGTGGC	0.602																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2212-2214)gAc>gGc									70	75	74					5																	140590692		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590692A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2213A>G	5.37:g.140590692A>G	ENSP00000239450:p.Asp738Gly					PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	p.D738G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2402	+			738					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2213A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047246	0.36085	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.77	3.4	2.21	0.28008	.	.	.	.	.	T	0.43144	0.1234	M	0.70595	2.14	0.25453	N	0.987989	B	0.27679	0.185	B	0.32342	0.144	T	0.36744	-0.9735	9	0.17369	T	0.5	.	5.5502	0.17086	0.7279:0.1719:0.1002:0.0	.	738	Q9Y5F1	PCDBC_HUMAN	G	401;738;358	ENSP00000440199:D401G;ENSP00000239450:D738G	ENSP00000239450:D738G	D	+	2	0	PCDHB12	140570876	0.997000	0.39634	0.218000	0.23776	0.116000	0.19942	3.553000	0.53713	0.344000	0.23847	0.392000	0.25879	GAC		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		145	760	0	0	0	1	0	145	760					G	140590692	A	G	140590692	3	3	79	1	0	0	0	0	1	0	0	0	11579	275	10	4	2215	4	PCDHB12	5	140590692	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	218	140590692	40324568	6597	16914											
PCDHB13	56123	broad.mit.edu	37	chr5	140593739	140593739	+	Frame_Shift_Del	DEL	T	T	-													ttgcagacaaaggcaagtccTtttttcctttctccttttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140593739delT	ENST00000341948.4	+	1	231	c.44delT	c.(43-45)cttfs	p.L15fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	15					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCCTTTTTTCCTTT	0.532																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(43-45)ctfs									42	42	42					5																	140593739		2203	4297	6500	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140593739delT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.44delT	5.37:g.140593739delT	ENSP00000345491:p.Leu15fs						p.L15fs	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	231	+			15					A8K9V6	Frame_Shift_Del	DEL	ENST00000341948.4	37	c.44delT	CCDS4255.1																																																																																				0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		30	148						30	148	---	---	---	---	-	140593739	T	-	140593739	7	5	79	1	0	1	0	1	0	0	0	0	11580	1609	56	0	46	0	PCDHB13	5	140593739	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	3047	140593739	40321521	6598	16915											
PCDHB13	56123	broad.mit.edu	37	chr5	140595695	140595695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctcctggtggacggcttctCccagccctacctgcctctcc	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595695C>A	ENST00000341948.4	+	1	2187	c.2000C>A	c.(1999-2001)tCc>tAc	p.S667Y		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.701																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1999-2001)tCc>tAc									37	42	40					5																	140595695		2066	4072	6138	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595695C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2000C>A	5.37:g.140595695C>A	ENSP00000345491:p.Ser667Tyr						p.S667Y	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2187	+			667			Cadherin 6.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2000C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	19.67	3.870659	0.72065	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.52057	0.68	3.3	3.3	0.37823	Cadherin (2);	.	.	.	.	T	0.71307	0.3324	M	0.88979	2.995	0.42107	D	0.991368	D	0.76494	0.999	D	0.69307	0.963	T	0.79892	-0.1611	9	0.87932	D	0	.	14.5914	0.68368	0.0:1.0:0.0:0.0	.	667	Q9Y5F0	PCDBD_HUMAN	Y	667;667;613	ENSP00000345491:S667Y	ENSP00000345491:S667Y	S	+	2	0	PCDHB13	140575879	0.951000	0.32395	0.997000	0.53966	0.794000	0.44872	2.747000	0.47475	1.576000	0.49790	0.298000	0.19748	TCC		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		142	714	1	0	7.45053e-56	1	9.31899e-56	142	714					A	140595695	C	A	140595695	3	1	79	1	0	0	0	0	1	0	0	0	11580	855	30	3	2002	3	PCDHB13	5	140595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1956	140595695	40319565	6599	16916											
PCDHB13	56123	broad.mit.edu	37	chr5	140595716	140595716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccctacctgcctctccCggaggcggccccgacccagg	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595716C>T	ENST00000341948.4	+	1	2208	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	674					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCTCTCCCGGAGGCGGCC	0.682																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2020-2022)cCg>cTg									56	63	61					5																	140595716		2147	4204	6351	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595716C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2021C>T	5.37:g.140595716C>T	ENSP00000345491:p.Pro674Leu						p.P674L	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2208	+			674					A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2021C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	12.06	1.824541	0.32237	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51071	0.72	3.3	2.41	0.29592	.	.	.	.	.	T	0.49115	0.1538	M	0.90650	3.135	0.09310	N	0.999999	P	0.40398	0.716	B	0.30572	0.117	T	0.50215	-0.8854	9	0.72032	D	0.01	.	8.5099	0.33211	0.0:0.8752:0.0:0.1248	.	674	Q9Y5F0	PCDBD_HUMAN	L	674;674;620	ENSP00000345491:P674L	ENSP00000345491:P674L	P	+	2	0	PCDHB13	140575900	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.080000	0.11339	0.514000	0.28300	0.298000	0.19748	CCG		0.682	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		97	979	0	0	0	1	0	97	979					T	140595716	C	T	140595716	3	4	79	1	0	0	0	0	1	0	0	0	11580	652	23	1	2023	1	PCDHB13	5	140595716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	140595716	40319544	6600	16917											
PCDHB14	56122	broad.mit.edu	37	chr5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggacctagggctgggggTggaggagctgtcttcacgtg	20	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(166-168)gTg>gCg									86	89	88					5																	140603244		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603244T>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.167T>C	5.37:g.140603244T>C	ENSP00000239449:p.Val56Ala					PCDHB14_ENST00000515856.2_Intron	p.V56A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	167	+			56			Cadherin 1.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.167T>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237733	0.22711	.	.	ENSG00000120327	ENST00000239449	T	0.29655	1.56	4.93	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.07809	-1.0753	9	0.20046	T	0.44	.	10.1776	0.42948	0.0:0.0814:0.0:0.9186	.	56	Q9Y5E9	PCDBE_HUMAN	A	56	ENSP00000239449:V56A	ENSP00000239449:V56A	V	+	2	0	PCDHB14	140583428	0.042000	0.20092	0.216000	0.23742	0.715000	0.41141	1.765000	0.38481	1.974000	0.57490	0.533000	0.62120	GTG		0.473	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		71	283	0	0	0	1	0	71	283					C	140603244	T	C	140603244	3	2	79	1	0	0	0	0	1	0	0	0	11581	1696	59	4	169	4	PCDHB14	5	140603244	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7528	140603244	40312016	6601	16918											
PCDHB14	56122	broad.mit.edu	37	chr5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacatttctagacaaggaaAtacttattaaaatatcagaa	4	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	138	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(412-414)Ata>Cta									67	73	71					5																	140603489		2198	4300	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603489A>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.412A>C	5.37:g.140603489A>C	ENSP00000239449:p.Ile138Leu					PCDHB14_ENST00000515856.2_5'UTR	p.I138L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	412	+			138			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.412A>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.54	2.863918	0.51482	.	.	ENSG00000120327	ENST00000239449	T	0.19532	2.14	4.92	3.73	0.42828	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.48830	D	0.999719	B	0.13145	0.007	B	0.12837	0.008	T	0.10451	-1.0629	9	0.15952	T	0.53	.	3.0982	0.06317	0.6325:0.1471:0.0792:0.1412	.	138	Q9Y5E9	PCDBE_HUMAN	L	138	ENSP00000239449:I138L	ENSP00000239449:I138L	I	+	1	0	PCDHB14	140583673	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	-0.073000	0.11468	0.797000	0.33971	0.528000	0.53228	ATA		0.393	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		134	523	0	0	0	1	0	134	523					C	140603489	A	C	140603489	3	2	79	1	0	0	0	0	1	0	0	0	11581	101	4	4	414	4	PCDHB14	5	140603489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245	140603489	40311771	6602	16919											
PCDHB14	56122	broad.mit.edu	37	chr5	140604406	140604406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccgtgctgctctctgaCgtcaatgacaacgcccccac	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1327-1329)gaC>gaT									155	148	150					5																	140604406		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604406C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1329C>T	5.37:g.140604406C>T						PCDHB14_ENST00000515856.2_Silent_p.D290D	p.D443D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1329	+			443			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1329C>T	CCDS4256.1																																																																																				0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		255	955	0	0	0	1	0	255	955					T	140604406	C	T	140604406	2	4	79	1	0	0	0	0	0	0	0	1	11581	535	19	1		1	PCDHB14	5	140604406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	140604406	40310854	6603	16920											
PCDHB14	56122	broad.mit.edu	37	chr5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggactacgaggccctacaGgagttcgagtttcgcgtggg	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1573-1575)caG>caT									79	85	83					5																	140604652		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604652G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1575G>T	5.37:g.140604652G>T	ENSP00000239449:p.Gln525His					PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	p.Q525H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1575	+			525			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1575G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234204	0.39498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	-5.01	0.02991	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.81802	2.56	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.00356	-1.1793	9	0.66056	D	0.02	.	9.7535	0.40490	0.1936:0.4883:0.3181:0.0	.	525	Q9Y5E9	PCDBE_HUMAN	H	372;525	ENSP00000444518:Q372H;ENSP00000239449:Q525H	ENSP00000239449:Q525H	Q	+	3	2	PCDHB14	140584836	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-2.831000	0.00743	-1.095000	0.03050	0.556000	0.70494	CAG		0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		82	734	1	0	1.8615e-32	1	2.19839e-32	82	734					T	140604652	G	T	140604652	3	4	79	1	0	0	0	0	1	0	0	0	11581	991	35	3	1577	3	PCDHB14	5	140604652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	140604652	40310608	6604	16921											
PCDHB14	56122	broad.mit.edu	37	chr5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgaggcgctggtgCgcgtgctggtgctggacgcc	19	11	0	1	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1642-1644)Cgc>Tgc									36	40	39					5																	140604719		2202	4297	6499	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604719C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1642C>T	5.37:g.140604719C>T	ENSP00000239449:p.Arg548Cys					PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	p.R548C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1642	+			548			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1642C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581771	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09862	0.0242	M	0.81802	2.56	0.40766	D	0.983045	D	0.89917	1.0	D	0.85130	0.997	T	0.00565	-1.1668	9	0.87932	D	0	.	11.7144	0.51643	0.1769:0.8231:0.0:0.0	.	548	Q9Y5E9	PCDBE_HUMAN	C	395;548	ENSP00000444518:R395C;ENSP00000239449:R548C	ENSP00000239449:R548C	R	+	1	0	PCDHB14	140584903	0.005000	0.15991	1.000000	0.80357	0.992000	0.81027	0.383000	0.20651	2.048000	0.60808	0.556000	0.70494	CGC		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		50	446	0	0	0	1	0	50	446					T	140604719	C	T	140604719	3	4	79	1	0	0	0	0	1	0	0	0	11581	768	27	1	1644	1	PCDHB14	5	140604719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	140604719	40310541	6605	16922											
PCDHB14	56122	broad.mit.edu	37	chr5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggtggtgctggtcaaGgacaatggcgagcctcctcg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1933-1935)aaG>aaT									12	14	14					5																	140605012		1766	3717	5483	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605012G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1935G>T	5.37:g.140605012G>T	ENSP00000239449:p.Lys645Asn					PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	p.K645N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1935	+			645			Cadherin 6.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1935G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.38	1.335100	0.24253	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53640	0.61;0.61	3.9	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61426	0.2346	M	0.70787	2.145	0.26717	N	0.970869	D	0.53745	0.962	P	0.61658	0.892	T	0.51888	-0.8648	9	0.87932	D	0	.	8.0146	0.30374	0.0925:0.1633:0.7443:0.0	.	645	Q9Y5E9	PCDBE_HUMAN	N	492;645	ENSP00000444518:K492N;ENSP00000239449:K645N	ENSP00000239449:K645N	K	+	3	2	PCDHB14	140585196	0.013000	0.17824	0.933000	0.37362	0.221000	0.24807	0.095000	0.15127	0.707000	0.31934	0.650000	0.86243	AAG		0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		107	332	1	0	1.02947e-67	1	1.30449e-67	107	332					T	140605012	G	T	140605012	3	4	79	1	0	0	0	0	1	0	0	0	11581	991	35	3	1937	3	PCDHB14	5	140605012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	140605012	40310248	6606	16923											
PCDHB15	56121	broad.mit.edu	37	chr5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaaaggcaagtcctgaTtctccttcttttactggaag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	16					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)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTCCTGATTCTCCTTCTT	0.532																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(46-48)aTt>aCt									67	73	71					5																	140625193		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625193T>C	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.47T>C	5.37:g.140625193T>C	ENSP00000231173:p.Ile16Thr						p.I16T	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	47	+			16					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.47T>C	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	9.688	1.151235	0.21371	.	.	ENSG00000113248	ENST00000231173	T	0.49720	0.77	4.6	4.6	0.57074	.	.	.	.	.	T	0.48677	0.1513	M	0.68728	2.09	0.25000	N	0.991476	B	0.10296	0.003	B	0.09377	0.004	T	0.46359	-0.9197	9	0.59425	D	0.04	.	13.643	0.62263	0.0:0.0:0.0:1.0	.	16	Q9Y5E8	PCDBF_HUMAN	T	16	ENSP00000231173:I16T	ENSP00000231173:I16T	I	+	2	0	PCDHB15	140605377	0.000000	0.05858	0.988000	0.46212	0.534000	0.34807	0.286000	0.18902	2.022000	0.59522	0.402000	0.26972	ATT		0.532	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		80	246	0	0	0	1	0	80	246					C	140625193	T	C	140625193	3	2	79	1	0	0	0	0	1	0	0	0	11582	1493	52	4	49	4	PCDHB15	5	140625193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20181	140625193	40290067	6607	16924											
PCDHB15	56121	broad.mit.edu	37	chr5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggcttctctcagccctacCtgccgctcccagaggcggcc	10	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	671	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)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCCCTACCTGCCGCTCCC	0.667																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2011-2013)Ctg>Atg									53	58	56					5																	140627157		2195	4276	6471	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627157C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2011C>A	5.37:g.140627157C>A	ENSP00000231173:p.Leu671Met						p.L671M	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2011	+			671			Cadherin 6.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2011C>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058930	0.36277	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.58	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.52885	0.1762	L	0.58583	1.82	0.28329	N	0.921895	D	0.58970	0.984	P	0.55667	0.781	T	0.46345	-0.9198	9	0.59425	D	0.04	.	5.9376	0.19175	0.0:0.6574:0.1841:0.1585	.	671	Q9Y5E8	PCDBF_HUMAN	M	671	ENSP00000231173:L671M	ENSP00000231173:L671M	L	+	1	2	PCDHB15	140607341	0.184000	0.23200	0.998000	0.56505	0.505000	0.33919	-0.072000	0.11486	2.293000	0.77203	0.549000	0.68633	CTG		0.667	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		80	747	1	0	3.33186e-49	1	4.11995e-49	80	747					A	140627157	C	A	140627157	3	1	79	1	0	0	0	0	1	0	0	0	11582	680	24	3	2013	3	PCDHB15	5	140627157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1964	140627157	40288103	6608	16925											
PCDHB15	56121	broad.mit.edu	37	chr5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctatattcccaaataTtgtaagccaggactctagga	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	774					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)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAAATATTGTAAGCCAG	0.443																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2320-2322)aTt>aGt									84	93	90					5																	140627467		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627467T>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2321T>G	5.37:g.140627467T>G	ENSP00000231173:p.Ile774Ser						p.I774S	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2321	+			774					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2321T>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862678	0.17178	.	.	ENSG00000113248	ENST00000231173	T	0.13657	2.57	4.39	0.331	0.15933	.	.	.	.	.	T	0.10895	0.0266	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31251	-0.9950	9	0.49607	T	0.09	.	3.6539	0.08213	0.1313:0.0786:0.1362:0.6539	.	774	Q9Y5E8	PCDBF_HUMAN	S	774	ENSP00000231173:I774S	ENSP00000231173:I774S	I	+	2	0	PCDHB15	140607651	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.505000	0.22642	0.154000	0.19237	0.454000	0.30748	ATT		0.443	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		162	611	0	0	0	1	0	162	611					G	140627467	T	G	140627467	3	3	79	1	0	0	0	0	1	0	0	0	11582	1493	52	4	2323	4	PCDHB15	5	140627467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	140627467	40287793	6609	16926											
SLC25A2	83884	broad.mit.edu	37	chr5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccaaattgtattatggCtttttgctatcttccctgac	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	149					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(445-447)aGc>aAc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						97	102	101					5																	140682987		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682987C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.446G>A	5.37:g.140682987C>T	ENSP00000239451:p.Ser149Asn						p.S149N	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	625	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	149					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.446G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.075023	0.20227	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.514389	0.22545	N	0.058679	T	0.68550	0.3013	L	0.47716	1.5	0.21527	N	0.999656	B	0.20368	0.044	B	0.23018	0.043	T	0.56183	-0.8021	10	0.28530	T	0.3	-21.2554	9.8762	0.41205	0.0:0.8956:0.0:0.1044	.	149	Q9BXI2	ORNT2_HUMAN	N	149	ENSP00000239451:S149N	ENSP00000239451:S149N	S	-	2	0	SLC25A2	140663171	1.000000	0.71417	0.005000	0.12908	0.759000	0.43091	6.595000	0.74109	1.181000	0.42912	0.650000	0.86243	AGC		0.488	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		111	541	0	0	0	1	0	111	541					T	140682987	C	T	140682987	3	4	79	1	0	0	0	0	1	0	0	0	14532	797	28	2	463	2	SLC25A2	5	140682987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55520	140682987	40232273	6610	16927											
SLC25A2	83884	broad.mit.edu	37	chr5	140683056	140683056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcacaagctcagtgGggcagagagccagtgcagca	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683056G>A	ENST00000239451.4	-	1	556	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	126					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(376-378)cCc>cTc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						97	106	103					5																	140683056		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683056G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.377C>T	5.37:g.140683056G>A	ENSP00000239451:p.Pro126Leu						p.P126L	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	556	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	126					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.377C>T	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333595	0.81801	.	.	ENSG00000120329	ENST00000239451	D	0.96940	-4.18	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98607	1.0661	10	0.87932	D	0	-23.9508	13.9383	0.64039	0.0:0.0:1.0:0.0	.	126	Q9BXI2	ORNT2_HUMAN	L	126	ENSP00000239451:P126L	ENSP00000239451:P126L	P	-	2	0	SLC25A2	140663240	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.721000	0.91446	2.424000	0.82194	0.650000	0.86243	CCC		0.522	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		138	619	0	0	0	1	0	138	619					A	140683056	G	A	140683056	3	1	79	1	0	0	0	0	1	0	0	0	14532	1232	43	2	532	2	SLC25A2	5	140683056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	140683056	40232204	6611	16928											
SLC25A2	83884	broad.mit.edu	37	chr5	140683087	140683087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcagcaaatgcagaggCgaaggaccccgcggctgcag	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683087C>T	ENST00000239451.4	-	1	525	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	116					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGCAGAGGCGAAGGACCCC	0.542																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(346-348)Gcc>Acc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						86	93	91					5																	140683087		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683087C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.346G>A	5.37:g.140683087C>T	ENSP00000239451:p.Ala116Thr						p.A116T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	525	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	116					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.346G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308083	0.60305	.	.	ENSG00000120329	ENST00000239451	D	0.87650	-2.28	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.93631	0.6956	10	0.54805	T	0.06	-21.1689	13.9383	0.64039	0.0:1.0:0.0:0.0	.	116	Q9BXI2	ORNT2_HUMAN	T	116	ENSP00000239451:A116T	ENSP00000239451:A116T	A	-	1	0	SLC25A2	140663271	1.000000	0.71417	0.535000	0.28026	0.009000	0.06853	6.932000	0.75869	2.424000	0.82194	0.650000	0.86243	GCC		0.542	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		44	642	0	0	0	1	0	44	642					T	140683087	C	T	140683087	3	4	79	1	0	0	0	0	1	0	0	0	14532	768	27	1	563	1	SLC25A2	5	140683087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140683087	40232173	6612	16929											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719048	140719048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgcccttcagaagtaCgcactcaacccaaatgacca	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	170	Cadherin 2. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(508-510)taC>taT									94	91	92					5																	140719048		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719048C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.510C>T	5.37:g.140719048C>T						PCDHGA1_ENST00000517417.1_Intron	p.Y170Y	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	510	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.510C>T	CCDS47289.1																																																																																				0.537	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		45	462	0	0	0	1	0	45	462					T	140719048	C	T	140719048	2	4	79	1	0	0	0	0	0	0	0	1	11596	547	19	1		1	PCDHGA2	5	140719048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35961	140719048	40196212	6613	16930											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggccttctaaccagagCgaaggttatcgtcacggttc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	331	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.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A331V(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(991-993)gCg>gTg									149	153	152					5																	140719530		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719530C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.992C>T	5.37:g.140719530C>T	ENSP00000378077:p.Ala331Val					PCDHGA1_ENST00000517417.1_Intron	p.A331V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	992	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.992C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		41	926	0	0	0	1	0	41	926					T	140719530	C	T	140719530	3	4	79	1	0	0	0	0	1	0	0	0	11596	768	27	1	994	1	PCDHGA2	5	140719530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	482	140719530	40195730	6614	16931											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagactctgggcagaacGcattcaccacctgttcactc	8	13	3	2	rs149474643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGAACGCATTCACCAC	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		19350	0.0		0.001	False		,,,				2504	0.0					ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1138-1140)Gca>Aca									81	83	82					5																	140719676		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719676G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1138G>A	5.37:g.140719676G>A	ENSP00000378077:p.Ala380Thr					PCDHGA1_ENST00000517417.1_Intron	p.A380T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1138	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1138G>A	CCDS47289.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.25	3.069835	0.55539	.	.	ENSG00000081853	ENST00000394576	T	0.01838	4.61	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.182113	0.25427	U	0.030741	T	0.05318	0.0141	N	0.16567	0.415	0.36952	D	0.892929	D;D	0.65815	0.995;0.986	P;P	0.59357	0.856;0.804	T	0.53592	-0.8417	10	0.87932	D	0	.	18.0539	0.89358	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	380	ENSP00000378077:A380T	ENSP00000378077:A380T	A	+	1	0	PCDHGA2	140699860	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	5.407000	0.66363	2.434000	0.82447	0.462000	0.41574	GCA		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		72	392	0	0	0	1	0	72	392					A	140719676	G	A	140719676	3	1	79	1	0	0	0	0	1	0	0	0	11596	1087	38	1	1140	1	PCDHGA2	5	140719676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	140719676	40195584	6615	16932											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccctccgccatacccaacGattcggacctcactctgtac	6	18	2	0	rs374361232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	686					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2056-2058)Gat>Aat				G	,ASN/ASP,ASN/ASP	1,4405		0,1,2202	106	112	110		,2056,2056	3.2	0	5		110	0,8596		0,0,4298	no	intron,missense,missense	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,23,23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	,686/933,686/824	140720594	1,13001	2203	4298	6501	SO:0001583	missense	0							g.chr5:140720594G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2056G>A	5.37:g.140720594G>A	ENSP00000378077:p.Asp686Asn					PCDHGA1_ENST00000517417.1_Intron	p.D686N	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2056	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2056G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156808	0.21454	2.27E-4	0.0	ENSG00000081853	ENST00000394576	T	0.48201	0.82	5.05	3.24	0.37175	.	0.543864	0.14979	U	0.287378	T	0.32496	0.0831	L	0.39326	1.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.15484	0.013;0.004	T	0.20773	-1.0265	10	0.30078	T	0.28	.	2.4419	0.04497	0.1658:0.1505:0.5281:0.1556	.	686;686	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	686	ENSP00000378077:D686N	ENSP00000378077:D686N	D	+	1	0	PCDHGA2	140700778	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.852000	0.39348	0.641000	0.30601	-0.515000	0.04445	GAT		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		194	868	0	0	0	1	0	194	868					A	140720594	G	A	140720594	3	1	79	1	0	0	0	0	1	0	0	0	11596	1058	37	1	2058	1	PCDHGA2	5	140720594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	140720594	40194666	6616	16933											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggtggccgcggtctcctgcg	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2086-2088)gCg>gTg									98	105	102					5																	140720625		2203	4296	6499	SO:0001583	missense	0							g.chr5:140720625C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2087C>T	5.37:g.140720625C>T	ENSP00000378077:p.Ala696Val					PCDHGA1_ENST00000517417.1_Intron	p.A696V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2087	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2087C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101865	0.76983	.	.	ENSG00000081853	ENST00000394576	T	0.25250	1.81	5.05	5.05	0.67936	.	0.000000	0.41097	U	0.000960	T	0.64148	0.2572	H	0.96943	3.91	0.35538	D	0.802815	D;D	0.89917	0.997;1.0	D;D	0.65140	0.927;0.932	T	0.82424	-0.0464	10	0.87932	D	0	.	16.6115	0.84884	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	696	ENSP00000378077:A696V	ENSP00000378077:A696V	A	+	2	0	PCDHGA2	140700809	0.998000	0.40836	0.952000	0.39060	0.008000	0.06430	4.415000	0.59809	2.532000	0.85374	0.485000	0.47835	GCG		0.672	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		30	1090	0	0	0	1	0	30	1090					T	140720625	C	T	140720625	3	4	79	1	0	0	0	0	1	0	0	0	11596	768	27	1	2089	1	PCDHGA2	5	140720625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140720625	40194635	6617	16934											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720708	140720708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctggcacaagtcacgcCtgctgcaggcttcaggaggc	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720708C>T	ENST00000394576.2	+	1	2170	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L724V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCACGCCTGCTGCAGGC	0.642																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.L724V(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2170-2172)Ctg>Ttg									79	84	82					5																	140720708		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140720708C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2170C>T	5.37:g.140720708C>T						PCDHGA1_ENST00000517417.1_Intron	p.L724L	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2170	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2170C>T	CCDS47289.1																																																																																				0.642	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		152	644	0	0	0	1	0	152	644					T	140720708	C	T	140720708	2	4	79	1	0	0	0	0	0	0	0	1	11596	680	24	2		2	PCDHGA2	5	140720708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	140720708	40194552	6618	16935											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtatccagagctggtgCtggagcgggccctggaccgt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	196	Cadherin 2. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542																																						ENST00000253812.6																			0				breast(1)	1						c.(586-588)Ctg>Atg									59	62	61					5																	140724186		2081	4227	6308	SO:0001583	missense	0							g.chr5:140724186C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.586C>A	5.37:g.140724186C>A	ENSP00000253812:p.Leu196Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L196M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	586	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.586C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513160	0.27123	.	.	ENSG00000254245	ENST00000253812	T	0.24723	1.84	5.65	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.000000	0.27379	U	0.019626	T	0.63094	0.2482	H	0.98314	4.2	0.21950	N	0.999452	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59968	-0.7354	10	0.87932	D	0	.	8.1665	0.31230	0.0:0.6332:0.0:0.3668	.	196;196	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	196	ENSP00000253812:L196M	ENSP00000253812:L196M	L	+	1	2	PCDHGA3	140704370	0.076000	0.21285	1.000000	0.80357	0.364000	0.29643	0.158000	0.16422	0.874000	0.35823	-0.136000	0.14681	CTG		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		80	365	1	0	6.86016e-32	1	8.08805e-32	80	365					A	140724186	C	A	140724186	3	1	79	1	0	0	0	0	1	0	0	0	11597	796	28	3	588	3	PCDHGA3	5	140724186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3478	140724186	40191074	6619	16936											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724569	140724569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaattgaagcacaggaTggaccaggtcttctttcaag	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	323	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACAGGATGGACCAGGTC	0.388																																						ENST00000253812.6																			0				breast(1)	1						c.(967-969)gaT>gaC									71	72	72					5																	140724569		1988	4217	6205	SO:0001819	synonymous_variant	0							g.chr5:140724569T>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.969T>C	5.37:g.140724569T>C						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D323D	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	969	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.969T>C	CCDS47290.1																																																																																				0.388	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		71	272	0	0	0	1	0	71	272					C	140724569	T	C	140724569	2	2	79	1	0	0	0	0	0	0	0	1	11597	1461	51	4		4	PCDHGA3	5	140724569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	383	140724569	40190691	6620	16937											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724707	140724707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagagaaattgctcttatCgacgtgcatgaccgagattc	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I369I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCTTATCGACGTGCATG	0.438																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.I369I(1)	endometrium(1)	breast(1)	1						c.(1105-1107)atC>atT									116	119	118					5																	140724707		1991	4188	6179	SO:0001819	synonymous_variant	0							g.chr5:140724707C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1107C>T	5.37:g.140724707C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.I369I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1107	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1107C>T	CCDS47290.1																																																																																				0.438	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		38	385	0	0	0	1	0	38	385					T	140724707	C	T	140724707	2	4	79	1	0	0	0	0	0	0	0	1	11597	874	31	1		1	PCDHGA3	5	140724707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	140724707	40190553	6621	16938											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcaaccccaatcaatacttCtctctgtcaacgaaggaaag	5	12	5	0	rs201293239	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	175	Cadherin 2. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAATACTTCTCTCTGTCAA	0.443																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(523-525)ttC>ttA									196	191	193					5																	140730352		1880	4114	5994	SO:0001583	missense	0							g.chr5:140730352C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.525C>A	5.37:g.140730352C>A	ENSP00000429273:p.Phe175Leu					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.F175L	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	525	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.525C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.564044	0.65651	.	.	ENSG00000254221	ENST00000523390	T	0.70749	-0.51	5.36	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88559	0.6469	H	0.97214	3.96	0.28420	N	0.917755	D;D	0.89917	1.0;0.984	D;D	0.80764	0.994;0.923	T	0.82263	-0.0544	9	0.87932	D	0	.	10.6944	0.45890	0.0:0.8366:0.0:0.1634	.	175;175	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	175	ENSP00000429273:F175L	ENSP00000429273:F175L	F	+	3	2	PCDHGB1	140710536	0.000000	0.05858	0.989000	0.46669	0.934000	0.57294	-0.549000	0.06041	1.324000	0.45282	0.563000	0.77884	TTC		0.443	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		104	1048	1	0	9.01214e-43	1	1.09842e-42	104	1048					A	140730352	C	A	140730352	3	1	79	1	0	0	0	0	1	0	0	0	11604	912	32	3	527	3	PCDHGB1	5	140730352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	140730352	40184908	6622	16939											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731024	140731024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgaagaattattacaaGctggtgattgctggagccct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATTACAAGCTGGTGATTG	0.478																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1195-1197)aaG>aaA									55	59	58					5																	140731024		1976	4159	6135	SO:0001819	synonymous_variant	0							g.chr5:140731024G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1197G>A	5.37:g.140731024G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.K399K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1197	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1197G>A	CCDS54923.1																																																																																				0.478	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		26	106	0	0	0	1	0	26	106					A	140731024	G	A	140731024	2	1	79	1	0	0	0	0	0	0	0	1	11604	962	34	2		2	PCDHGB1	5	140731024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	140731024	40184236	6623	16940											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggaccagggctcccccGcgctcagcgccaacgtgagc	13	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	537	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.A537T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCCCCGCGCTCAGCGC	0.711																																						ENST00000523390.1																			2	Substitution - Missense(2)	p.A537T(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1609-1611)Gcg>Acg									39	48	45					5																	140731436		2112	4229	6341	SO:0001583	missense	0							g.chr5:140731436G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1609G>A	5.37:g.140731436G>A	ENSP00000429273:p.Ala537Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A537T	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1609	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1609G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042731	0.36085	.	.	ENSG00000254221	ENST00000523390	T	0.52295	0.67	5.39	1.16	0.20824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33000	0.0848	L	0.28274	0.84	0.23361	N	0.997831	B;B	0.34241	0.444;0.205	B;B	0.38458	0.18;0.274	T	0.25745	-1.0123	9	0.51188	T	0.08	.	3.9761	0.09475	0.1431:0.3148:0.4298:0.1123	.	537;537	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	537	ENSP00000429273:A537T	ENSP00000429273:A537T	A	+	1	0	PCDHGB1	140711620	0.000000	0.05858	0.969000	0.41365	0.748000	0.42578	-0.363000	0.07593	0.294000	0.22547	0.563000	0.77884	GCG		0.711	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		50	488	0	0	0	1	0	50	488					A	140731436	G	A	140731436	3	1	79	1	0	0	0	0	1	0	0	0	11604	1087	38	1	1611	1	PCDHGB1	5	140731436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	140731436	40183824	6624	16941											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735709	140735709	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattatgaggactctggattCtatgacatagatgtagaagc	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(940-942)ttC>ttT									51	50	50					5																	140735709		1853	4103	5956	SO:0001819	synonymous_variant	0							g.chr5:140735709C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.942C>T	5.37:g.140735709C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.F314F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	942	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.942C>T	CCDS58979.1																																																																																				0.438	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		29	87	0	0	0	1	0	29	87					T	140735709	C	T	140735709	2	4	79	1	0	0	0	0	0	0	0	1	11598	912	32	2		2	PCDHGA4	5	140735709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4273	140735709	40179551	6625	16942											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741634	140741634	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgccagcgcctgctggtCgctgtgcgtgatggaggaca	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	ENST00000522605.1	+	1	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGGTCGCTGTGCGTG	0.687																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1930-1932)gtC>gtT									16	19	18					5																	140741634		1906	4113	6019	SO:0001819	synonymous_variant	0							g.chr5:140741634C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1932C>T	5.37:g.140741634C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V644V	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1932	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.1932C>T	CCDS54924.1																																																																																				0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		32	156	0	0	0	1	0	32	156					T	140741634	C	T	140741634	2	4	79	1	0	0	0	0	0	0	0	1	11605	871	31	1		1	PCDHGB2	5	140741634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5925	140741634	40173626	6626	16943											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746123	140746123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctcgcactttgtgggCgtggatggggttcgggcttt	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGATGGGG	0.627																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(2224-2226)ggC>ggT									80	90	86					5																	140746123		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140746123C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2226C>T	5.37:g.140746123C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G742G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2226	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2226C>T	CCDS54925.1																																																																																				0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		168	637	0	0	0	1	0	168	637					T	140746123	C	T	140746123	2	4	79	1	0	0	0	0	0	0	0	1	11599	755	27	1		1	PCDHGA5	5	140746123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	140746123	40169137	6627	16944											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacgtgtccgtgagcgcgCggagcggggtggtgttcgcg	19	11	0	1	rs200368368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	510	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCGCGCGGAGCGGGGT	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1528-1530)Cgg>Tgg				C	,,,,,,,TRP/ARG,TRP/ARG	0,4154		0,0,2077	49	53	52		,,,,,,,1528,1528	2.9	0.1	5		52	2,8448		0,2,4223	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,101,101	0,2,6300	TT,TC,CC		0.0237,0.0,0.0159	,,,,,,,,	,,,,,,,510/930,510/815	140751489	2,12602	2077	4225	6302	SO:0001583	missense	0							g.chr5:140751489C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1528C>T	5.37:g.140751489C>T	ENSP00000461862:p.Arg510Trp					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R510W	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1659	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1528C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		92	396	0	0	0	1	0	92	396					T	140751489	C	T	140751489	3	4	79	1	0	0	0	0	1	0	0	0	11606	759	27	1	1530	1	PCDHGB3	5	140751489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5366	140751489	40163771	6628	16945											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggatgggccaggtcttCgagacagagcgaaagtctta	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(982-984)Cga>Tga									150	156	154					5																	140754632		1875	4098	5973	SO:0001587	stop_gained	0							g.chr5:140754632C>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.982C>T	5.37:g.140754632C>T	ENSP00000429601:p.Arg328*					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R328*	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	982	+								A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	37	c.982C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		127	663	0	0	0	1	0	127	663					T	140754632	C	T	140754632	4	4	79	1	0	0	0	0	0	1	0	0	11600	876	31	1	984	1	PCDHGA6	5	140754632	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3143	140754632	40160628	6629	16946											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaggaacaccacctctgtCtacagaaacaatcatctctc	4	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCTGTCTACAGAAACA	0.463																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1297-1299)tCt>tTt									115	124	121					5																	140754948		2115	4254	6369	SO:0001583	missense	0							g.chr5:140754948C>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.1298C>T	5.37:g.140754948C>T	ENSP00000429601:p.Ser433Phe					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S433F	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1298	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1298C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110886	0.37242	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.31145	U	0.008180	T	0.79293	0.4421	M	0.92738	3.34	0.32337	N	0.56034	P;D	0.56746	0.906;0.977	P;D	0.67231	0.66;0.95	D	0.84431	0.0577	10	0.59425	D	0.04	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;433	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	433	ENSP00000429601:S433F	ENSP00000429601:S433F	S	+	2	0	PCDHGA6	140735132	0.719000	0.27986	0.909000	0.35828	0.004000	0.04260	1.771000	0.38542	2.885000	0.99019	0.655000	0.94253	TCT		0.463	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		122	484	0	0	0	1	0	122	484					T	140754948	C	T	140754948	3	4	79	1	0	0	0	0	1	0	0	0	11600	913	32	2	1300	2	PCDHGA6	5	140754948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	140754948	40160312	6630	16947											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755255	140755255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtgggtgacagccagCgacagcggggacccgcctct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCAGCGACAGCGGGG	0.597																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1603-1605)agC>agT									100	120	113					5																	140755255		2192	4299	6491	SO:0001819	synonymous_variant	0							g.chr5:140755255C>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.1605C>T	5.37:g.140755255C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S535S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1605	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1605C>T	CCDS54926.1																																																																																				0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		222	908	0	0	0	1	0	222	908					T	140755255	C	T	140755255	2	4	79	1	0	0	0	0	0	0	0	1	11600	767	27	1		1	PCDHGA6	5	140755255	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	140755255	40160005	6631	16948											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagccaggactctttgCggttgggctgtacacgggcg	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTTGCGGTTGGGCTG	0.642																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1852-1854)gCg>gTg									48	56	53					5																	140764319		2203	4300	6503	SO:0001583	missense	0							g.chr5:140764319C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1853C>T	5.37:g.140764319C>T	ENSP00000430024:p.Ala618Val					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.A618V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1853C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.265	-0.150381	0.06585	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	0.145	0.14829	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28134	0.0694	N	0.17278	0.47	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.19391	0.025;0.005	T	0.24190	-1.0167	9	0.72032	D	0.01	.	4.0537	0.09806	0.2449:0.4047:0.0:0.3505	.	618;618	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	618	ENSP00000430024:A618V	ENSP00000430024:A618V	A	+	2	0	PCDHGA7	140744503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.477000	0.00985	-0.210000	0.10140	-0.123000	0.14984	GCG		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		24	428	0	0	0	1	0	24	428					T	140764319	C	T	140764319	3	4	79	1	0	0	0	0	1	0	0	0	11601	768	27	1	1855	1	PCDHGA7	5	140764319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9064	140764319	40150941	6632	16949											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatagatcgggaggagCtctgcgctcagagcccgcgg	17	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TCGGGAGGAGCTCTGCGCTCA	0.517																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(283-285)Ctc>Atc									31	38	36					5																	140772663		2167	4290	6457	SO:0001583	missense	0							g.chr5:140772663C>A	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.283C>A	5.37:g.140772663C>A	ENSP00000381605:p.Leu95Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L95I	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	283	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.283C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110383	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.39592	1.07	5.26	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.351709	0.15671	U	0.250390	T	0.41351	0.1155	L	0.52126	1.63	0.25431	N	0.988188	B;B	0.25486	0.127;0.048	B;B	0.35971	0.215;0.096	T	0.33979	-0.9847	10	0.19147	T	0.46	.	13.2724	0.60167	0.3938:0.6062:0.0:0.0	.	95;95	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	95	ENSP00000381605:L95I	ENSP00000381605:L95I	L	+	1	0	PCDHGA8	140752847	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	0.579000	0.23788	1.210000	0.43336	0.655000	0.94253	CTC		0.517	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		75	336	1	0	2.49587e-40	1	3.02561e-40	75	336					A	140772663	C	A	140772663	3	1	79	1	0	0	0	0	1	0	0	0	11602	797	28	3	285	3	PCDHGA8	5	140772663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8344	140772663	40142597	6633	16950											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774173	140774173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggcggtggacagagactCgggccagaacgcctggctgt	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	ENST00000398604.2	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GACAGAGACTCGGGCCAGAAC	0.711																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1792-1794)tCg>tTg									28	36	33					5																	140774173		2198	4294	6492	SO:0001583	missense	0							g.chr5:140774173C>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.1793C>T	5.37:g.140774173C>T	ENSP00000381605:p.Ser598Leu					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S598L	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1793	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1793C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	25.7	4.663205	0.88251	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.28214	U	0.016170	T	0.71417	0.3337	M	0.80028	2.48	0.42614	D	0.993329	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.76697	-0.2864	10	0.87932	D	0	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	598;598	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	598	ENSP00000381605:S598L	ENSP00000381605:S598L	S	+	2	0	PCDHGA8	140754357	0.972000	0.33761	0.972000	0.41901	0.996000	0.88848	2.485000	0.45250	2.366000	0.80165	0.655000	0.94253	TCG		0.711	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		80	433	0	0	0	1	0	80	433					T	140774173	C	T	140774173	3	4	79	1	0	0	0	0	1	0	0	0	11602	893	31	1	1795	1	PCDHGA8	5	140774173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	140774173	40141087	6634	16951											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacggcctcggatggcGgcgagccgcgtcgctccagc	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATGGCGGCGAGCCGCG	0.582																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(652-654)Ggc>Agc									26	31	29					5																	140783171		2045	4182	6227	SO:0001583	missense	0							g.chr5:140783171G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.652G>A	5.37:g.140783171G>A	ENSP00000460274:p.Gly218Ser					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G218S	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	652	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.652G>A	CCDS58981.1																																																																																				0.582	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		54	242	0	0	0	1	0	54	242					A	140783171	G	A	140783171	3	1	79	1	0	0	0	0	1	0	0	0	11603	1116	39	1	654	1	PCDHGA9	5	140783171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8998	140783171	40132089	6635	16952											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgaaaaacaatctctgCtattccagcttaatgaaaat	4	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCTCTGCTATTCCAGCT	0.383																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(871-873)Cta>Ata									86	90	89					5																	140783390		1829	4091	5920	SO:0001583	missense	0							g.chr5:140783390C>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.871C>A	5.37:g.140783390C>A	ENSP00000460274:p.Leu291Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L291I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	871	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.871C>A	CCDS58981.1																																																																																				0.383	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		97	480	1	0	9.45097e-43	1	1.15162e-42	97	480					A	140783390	C	A	140783390	3	1	79	1	0	0	0	0	1	0	0	0	11603	796	28	3	873	3	PCDHGA9	5	140783390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	140783390	40131870	6636	16953											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784352	140784352	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccgcctattcaaggcCagtgagccagggctcttctc	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAAGGCCAGTGAGCCAG	0.612																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1831-1833)gcC>gcA									55	63	60					5																	140784352		2201	4299	6500	SO:0001819	synonymous_variant	0							g.chr5:140784352C>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1833C>A	5.37:g.140784352C>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A611A	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1833	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1833C>A	CCDS58981.1																																																																																				0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		90	423	1	0	4.4782e-45	1	5.48732e-45	90	423					A	140784352	C	A	140784352	2	1	79	1	0	0	0	0	0	0	0	1	11603	581	21	3		3	PCDHGA9	5	140784352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	962	140784352	40130908	6637	16954											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcggccactgtcacgCtcacagtagccatagctgac	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1978-1980)Ctc>Ttc									55	64	61					5																	140784497		2187	4293	6480	SO:0001583	missense	0							g.chr5:140784497C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1978C>T	5.37:g.140784497C>T	ENSP00000460274:p.Leu660Phe					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L660F	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1978	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1978C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		79	303	0	0	0	1	0	79	303					T	140784497	C	T	140784497	3	4	79	1	0	0	0	0	1	0	0	0	11603	797	28	2	1980	2	PCDHGA9	5	140784497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	140784497	40130763	6638	16955											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagaaaaatgagcctTtgtgcgtctctgttgattcc	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	791			L -> F (in dbSNP:rs17097274).		homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGAGCCTTTGTGCGTCTC	0.443																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2371-2373)Ttg>Gtg									76	84	81					5																	140784890		2195	4298	6493	SO:0001583	missense	0							g.chr5:140784890T>G	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2371T>G	5.37:g.140784890T>G	ENSP00000460274:p.Leu791Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L791V	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2371	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2371T>G	CCDS58981.1																																																																																				0.443	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		67	332	0	0	0	1	0	67	332					G	140784890	T	G	140784890	3	3	79	1	0	0	0	0	1	0	0	0	11603	1838	64	4	2373	4	PCDHGA9	5	140784890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	393	140784890	40130370	6639	16956											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacttcagcgtagacgCggagagcggggacttacttg	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTAGACGCGGAGAGCGGG	0.532																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(235-237)gCg>gTg									128	134	132					5																	140788005		1958	4148	6106	SO:0001583	missense	0							g.chr5:140788005C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.236C>T	5.37:g.140788005C>T	ENSP00000428603:p.Ala79Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A79V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	236	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.236C>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	9.378	1.072243	0.20147	.	.	ENSG00000253305	ENST00000520790	T	0.38722	1.12	5.38	0.674	0.17946	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31358	0.0794	L	0.42008	1.315	0.09310	N	1	P;P	0.46952	0.813;0.887	B;B	0.43658	0.426;0.3	T	0.17868	-1.0355	9	0.13470	T	0.59	.	6.4485	0.21890	0.0:0.4606:0.2178:0.3216	.	79;79	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	79	ENSP00000428603:A79V	ENSP00000428603:A79V	A	+	2	0	PCDHGB6	140768189	0.000000	0.05858	0.942000	0.38095	0.936000	0.57629	-3.008000	0.00649	-0.082000	0.12640	0.467000	0.42956	GCG		0.532	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		124	462	0	0	0	1	0	124	462					T	140788005	C	T	140788005	3	4	79	1	0	0	0	0	1	0	0	0	11609	768	27	1	238	1	PCDHGB6	5	140788005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3115	140788005	40127255	6640	16957											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacccagctctgggtcctGacggctccgcgttcttcgat	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTCCTGACGGCTCCGC	0.652																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1708-1710)Gac>Aac									27	35	32					5																	140789477		2139	4257	6396	SO:0001583	missense	0							g.chr5:140789477G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1708G>A	5.37:g.140789477G>A	ENSP00000428603:p.Asp570Asn					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D570N	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1708	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1708G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.345171	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.48522	0.81	5.36	5.36	0.76844	Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	N	0.13352	0.335	0.09310	N	1	D;D	0.62365	0.991;0.983	D;D	0.64595	0.917;0.927	T	0.30208	-0.9986	9	0.28530	T	0.3	.	7.8633	0.29522	0.0858:0.1639:0.7503:0.0	.	570;570	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	570	ENSP00000428603:D570N	ENSP00000428603:D570N	D	+	1	0	PCDHGB6	140769661	0.057000	0.20700	0.498000	0.27564	0.025000	0.11179	2.332000	0.43903	2.517000	0.84864	0.462000	0.41574	GAC		0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		39	109	0	0	0	1	0	39	109					A	140789477	G	A	140789477	3	1	79	1	0	0	0	0	1	0	0	0	11609	1290	45	2	1710	2	PCDHGB6	5	140789477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1472	140789477	40125783	6641	16958											
PCDHGA10	56106	broad.mit.edu	37	chr5	140792997	140792997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctgaacccgcgcagCggcagcttgatcaccgcggg	12	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCAGCTTGA	0.627																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(253-255)agC>agT									59	75	69					5																	140792997		2119	4261	6380	SO:0001819	synonymous_variant	0							g.chr5:140792997C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.255C>T	5.37:g.140792997C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S85S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	255	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.255C>T	CCDS47292.1																																																																																				0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		24	883	0	0	0	1	0	24	883					T	140792997	C	T	140792997	2	4	79	1	0	0	0	0	0	0	0	1	11593	767	27	1		1	PCDHGA10	5	140792997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3520	140792997	40122263	6642	16959											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793471	140793471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatgcaaatgacaacgcGccggtcttcaccttgccaga	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	243	Cadherin 2. {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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTCTTCA	0.582																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(727-729)gcG>gcA									44	47	46					5																	140793471		2051	4181	6232	SO:0001819	synonymous_variant	0							g.chr5:140793471G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.729G>A	5.37:g.140793471G>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A243A	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	729	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.729G>A	CCDS47292.1																																																																																				0.582	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		51	205	0	0	0	1	0	51	205					A	140793471	G	A	140793471	2	1	79	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCDHGA10	5	140793471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474	140793471	40121789	6643	16960											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagcctacctggtccAcgtgccagaaaacaaccagc	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	460	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGTCCACGTGCCAGAA	0.572																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1378-1380)cAc>cGc									74	87	83					5																	140798805		2128	4245	6373	SO:0001583	missense	0							g.chr5:140798805A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1379A>G	5.37:g.140798805A>G	ENSP00000381594:p.His460Arg					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.H460R	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1379	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1379A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497983	0.44455	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	1.371310	0.06276	U	0.696544	T	0.49525	0.1562	N	0.11284	0.12	0.23126	N	0.998253	P;P	0.49783	0.928;0.907	P;P	0.55260	0.772;0.586	T	0.57248	-0.7844	10	0.66056	D	0.02	.	15.0833	0.72130	1.0:0.0:0.0:0.0	.	460;460	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	460	ENSP00000381594:H460R	ENSP00000381594:H460R	H	+	2	0	PCDHGB7	140778989	0.000000	0.05858	0.083000	0.20561	0.702000	0.40608	1.074000	0.30703	2.036000	0.60181	0.402000	0.26972	CAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		73	373	0	0	0	1	0	73	373					G	140798805	A	G	140798805	3	3	79	1	0	0	0	0	1	0	0	0	11610	159	6	4	1381	4	PCDHGB7	5	140798805	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5334	140798805	40116455	6644	16961											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcagcgccaatgtgagCctgcgcgtgttggtgggcga	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	547	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATGTGAGCCTGCGCGTGT	0.711																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1639-1641)agC>agA									28	34	32					5																	140799067		2082	4197	6279	SO:0001583	missense	0							g.chr5:140799067C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1641C>A	5.37:g.140799067C>A	ENSP00000381594:p.Ser547Arg					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S547R	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1641	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1641C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.915298	0.52546	.	.	ENSG00000254122	ENST00000398594	T	0.51574	0.7	5.38	2.48	0.30137	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.51856	0.1699	L	0.45744	1.44	0.21841	N	0.999514	D;D	0.67145	0.996;0.972	D;P	0.68943	0.961;0.891	T	0.39502	-0.9611	10	0.87932	D	0	.	2.0696	0.03610	0.1243:0.4274:0.2234:0.2249	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	547	ENSP00000381594:S547R	ENSP00000381594:S547R	S	+	3	2	PCDHGB7	140779251	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.059000	0.11731	1.270000	0.44297	0.491000	0.48974	AGC		0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		49	233	1	0	2.77807e-22	1	3.14147e-22	49	233					A	140799067	C	A	140799067	3	1	79	1	0	0	0	0	1	0	0	0	11610	738	26	3	1643	3	PCDHGB7	5	140799067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	140799067	40116193	6645	16962											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgacaacgcaccgcgggtgCtgtaccctgcgctgggtccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	563					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGTGCTGTACCCTGC	0.721																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1687-1689)Ctg>Atg									28	35	33					5																	140799113		2138	4247	6385	SO:0001583	missense	0							g.chr5:140799113C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1687C>A	5.37:g.140799113C>A	ENSP00000381594:p.Leu563Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L563M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1687	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1687C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723682	0.48728	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.38	4.51	0.55191	Cadherin-like (1);	0.000000	0.28624	U	0.014683	T	0.81640	0.4865	M	0.89840	3.065	0.23661	N	0.99718	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.75764	-0.3203	10	0.87932	D	0	.	12.9582	0.58442	0.0:0.9204:0.0:0.0796	.	563;563	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	563	ENSP00000381594:L563M	ENSP00000381594:L563M	L	+	1	2	PCDHGB7	140779297	0.071000	0.21146	1.000000	0.80357	0.813000	0.45954	0.749000	0.26320	1.270000	0.44297	0.491000	0.48974	CTG		0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		52	233	1	0	1.07234e-20	1	1.20343e-20	52	233					A	140799113	C	A	140799113	3	1	79	1	0	0	0	0	1	0	0	0	11610	796	28	3	1689	3	PCDHGB7	5	140799113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	140799113	40116147	6646	16963											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagcacgtgacagcggggAcccgcccctcagcagcaacg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	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)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGGGGACCCGCCCCTC	0.562																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1618-1620)gAc>gGc									136	158	151					5																	140802413		2203	4300	6503	SO:0001583	missense	0							g.chr5:140802413A>G	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1619A>G	5.37:g.140802413A>G	ENSP00000381589:p.Asp540Gly					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D540G	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1652	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1619A>G	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	7.478	0.648163	0.14516	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.49432	0.78;0.78	5.72	4.5	0.54988	Cadherin (4);Cadherin-like (1);	1.020620	0.07964	U	0.982835	T	0.36413	0.0966	N	0.16602	0.42	0.23356	N	0.997842	B;B;B	0.26876	0.071;0.162;0.036	B;B;B	0.28638	0.068;0.092;0.087	T	0.27191	-1.0081	10	0.66056	D	0.02	.	11.175	0.48595	0.6659:0.3341:0.0:0.0	.	540;540;540	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	G	540	ENSP00000381589:D540G;ENSP00000428333:D540G	ENSP00000381589:D540G	D	+	2	0	PCDHGA11	140782597	0.003000	0.15002	0.684000	0.30055	0.018000	0.09664	2.131000	0.42074	2.189000	0.69895	0.533000	0.62120	GAC		0.562	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		236	1108	0	0	0	1	0	236	1108					G	140802413	A	G	140802413	3	3	79	1	0	0	0	0	1	0	0	0	11594	275	10	4	1621	4	PCDHGA11	5	140802413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3300	140802413	40112847	6647	16964											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgtcctgctgggaatcCtcctggggactctgtgggag	16	10	1	0	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGAATCCTCCTGGGGAC	0.537																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(55-57)Ctc>Atc									80	91	87					5																	140810381		2203	4300	6503	SO:0001583	missense	0							g.chr5:140810381C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.55C>A	5.37:g.140810381C>A	ENSP00000252085:p.Leu19Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L19I	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	197	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.55C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	4.038	0.004618	0.07866	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.57	-1.04	0.10068	.	.	.	.	.	T	0.49525	0.1562	M	0.69248	2.105	0.09310	N	1	P;B	0.35872	0.525;0.307	B;B	0.37387	0.248;0.138	T	0.45264	-0.9273	9	0.52906	T	0.07	.	10.0467	0.42190	0.0:0.2627:0.5489:0.1884	.	19;19	O60330-2;O60330	.;PCDGC_HUMAN	I	19	ENSP00000252085:L19I	ENSP00000252085:L19I	L	+	1	0	PCDHGA12	140790565	0.000000	0.05858	0.158000	0.22627	0.016000	0.09150	-1.337000	0.02657	-0.272000	0.09259	-0.219000	0.12488	CTC		0.537	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		116	592	1	0	1.20412e-61	1	1.51656e-61	116	592					A	140810381	C	A	140810381	3	1	79	1	0	0	0	0	1	0	0	0	11595	681	24	3	57	3	PCDHGA12	5	140810381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	140810381	40104879	6648	16965											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagcccgagtaccgcgCgagcgttccggagaatctgg	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	249	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTACCGCGCGAGCGTTCCG	0.637																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(745-747)gCg>gTg									53	55	54					5																	140811072		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811072C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.746C>T	5.37:g.140811072C>T	ENSP00000252085:p.Ala249Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A249V	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	888	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.746C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.624354	0.00820	.	.	ENSG00000253159	ENST00000252085	T	0.52295	0.67	5.09	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.09949	0.0244	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.33266	-0.9875	9	0.02654	T	1	.	5.4684	0.16656	0.1142:0.2523:0.0:0.6335	.	249;249	O60330-2;O60330	.;PCDGC_HUMAN	V	249	ENSP00000252085:A249V	ENSP00000252085:A249V	A	+	2	0	PCDHGA12	140791256	0.977000	0.34250	0.129000	0.21949	0.489000	0.33432	1.584000	0.36589	-0.416000	0.07473	-1.707000	0.00718	GCG		0.637	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		23	437	0	0	0	1	0	23	437					T	140811072	C	T	140811072	3	4	79	1	0	0	0	0	1	0	0	0	11595	768	27	1	748	1	PCDHGA12	5	140811072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691	140811072	40104188	6649	16966											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatctggccttgggcaCgcagctgcttgtagtcaacg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	259	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(775-777)aCg>aTg									55	56	56					5																	140811102		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811102C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.776C>T	5.37:g.140811102C>T	ENSP00000252085:p.Thr259Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T259M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	918	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.776C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	PCDHGA12	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		88	359	0	0	0	1	0	88	359					T	140811102	C	T	140811102	3	4	79	1	0	0	0	0	1	0	0	0	11595	536	19	1	778	1	PCDHGA12	5	140811102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	140811102	40104158	6650	16967											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812391	140812391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaactctgaaacctcagacCtcactctgtacctggtggta	7	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140812391C>A	ENST00000252085.3	+	1	2207	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTCAGACCTCACTCTGTA	0.652																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2065-2067)Ctc>Atc									97	109	105					5																	140812391		2203	4300	6503	SO:0001583	missense	0							g.chr5:140812391C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2065C>A	5.37:g.140812391C>A	ENSP00000252085:p.Leu689Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L689I	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2207	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2065C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.754532	0.49362	.	.	ENSG00000253159	ENST00000252085	T	0.55234	0.53	5.1	4.22	0.49857	.	.	.	.	.	T	0.62986	0.2473	M	0.75884	2.315	0.21915	N	0.999471	P;P	0.51933	0.949;0.525	P;B	0.50860	0.652;0.333	T	0.56944	-0.7895	9	0.49607	T	0.09	.	13.4403	0.61108	0.0:0.9226:0.0:0.0774	.	689;689	O60330-2;O60330	.;PCDGC_HUMAN	I	689	ENSP00000252085:L689I	ENSP00000252085:L689I	L	+	1	0	PCDHGA12	140792575	.	.	0.073000	0.20177	0.015000	0.08874	.	.	1.261000	0.44149	0.561000	0.74099	CTC		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		36	1076	1	0	6.90743e-12	1	7.39364e-12	36	1076					A	140812391	C	A	140812391	3	1	79	1	0	0	0	0	1	0	0	0	11595	681	24	3	2067	3	PCDHGA12	5	140812391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	140812391	40102869	6651	16968											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaagacaagggcgccaatCccgaaggagcacattgcaaa	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCCAATCCCGAAGGAGC	0.542																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(991-993)Ccc>Tcc									81	73	76					5																	140856674		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856674C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.991C>T	5.37:g.140856674C>T	ENSP00000312070:p.Pro331Ser					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P331S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1095	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.991C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572384	0.13623	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34337	0.0894	L	0.31476	0.935	0.09310	N	1	B;P	0.37731	0.134;0.607	B;B	0.30782	0.084;0.12	T	0.08848	-1.0702	9	0.12430	T	0.62	.	11.1109	0.48232	0.0:0.8591:0.0:0.1409	.	331;331	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	331	ENSP00000312070:P331S	ENSP00000312070:P331S	P	+	1	0	PCDHGC3	140836858	0.001000	0.12720	0.992000	0.48379	0.976000	0.68499	0.869000	0.27996	2.865000	0.98341	0.655000	0.94253	CCC		0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		63	283	0	0	0	1	0	63	283					T	140856674	C	T	140856674	3	4	79	1	0	0	0	0	1	0	0	0	11611	855	30	2	993	2	PCDHGC3	5	140856674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44283	140856674	40058586	6652	16969											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856829	140856829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgacctggatgctggCgagaacgggctggtgacctg	17	9	0	4	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGCTGGCGAGAACGGGC	0.567													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17932	0.0		0.0	False		,,,				2504	0.0					ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1144-1146)ggC>ggT				C	,,,,,,,,,,,,,,,,,,,,,,	24,4382	30.8+/-60.4	0,24,2179	44	42	42		1146,,,,,,,,,,,,,,,,,,,,,1146,	-3.2	0.9	5	dbSNP_129	42	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032402.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	,,,,,,,,,,,,,,,,,,,,,,	382/935,,,,,,,,,,,,,,,,,,,,,382/864,	140856829	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140856829C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1146C>T	5.37:g.140856829C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G382G	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1250	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1146C>T	CCDS4261.1																																																																																				0.567	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		49	175	0	0	0	1	0	49	175					T	140856829	C	T	140856829	2	4	79	1	0	0	0	0	0	0	0	1	11611	755	27	1		1	PCDHGC3	5	140856829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	140856829	40058431	6653	16970											
PCDHGC4	56098	broad.mit.edu	37	chr5	140867053	140867053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaggccactctcatggCtgtacacccttggcttctgc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	771					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATGGCTGTACACCCT	0.572																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2311-2313)ggC>ggA									87	74	78					5																	140867053		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140867053C>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2313C>A	5.37:g.140867053C>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.G771G	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2313	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.2313C>A	CCDS4262.1																																																																																				0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		50	237	1	0	9.40368e-32	1	1.10827e-31	50	237					A	140867053	C	A	140867053	2	1	79	1	0	0	0	0	0	0	0	1	11612	784	28	3		3	PCDHGC4	5	140867053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10224	140867053	40048207	6654	16971											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggctcccttctttgcaCtgtggctgcctcagatccag	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTGCACTGTGGCTGCC	0.527																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1423-1425)aCt>aTt									128	137	134					5																	140870231		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870231C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1424C>T	5.37:g.140870231C>T	ENSP00000252087:p.Thr475Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.T475I	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1424	+			475			Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1424C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544687	0.27563	.	.	ENSG00000240764	ENST00000252087	T	0.02446	4.29	5.56	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.06600	0.0169	M	0.74881	2.28	0.34109	D	0.662799	B;B	0.20261	0.043;0.014	B;B	0.23574	0.021;0.047	T	0.02075	-1.1218	10	0.66056	D	0.02	.	14.3616	0.66776	0.0:0.9284:0.0:0.0716	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	475	ENSP00000252087:T475I	ENSP00000252087:T475I	T	+	2	0	PCDHGC5	140850415	0.002000	0.14202	0.979000	0.43373	0.982000	0.71751	1.316000	0.33620	1.582000	0.49881	0.655000	0.94253	ACT		0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		192	1011	0	0	0	1	0	192	1011					T	140870231	C	T	140870231	3	4	79	1	0	0	0	0	1	0	0	0	11613	565	20	2	1426	2	PCDHGC5	5	140870231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3178	140870231	40045029	6655	16972											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgactctgacacccagcagGtggtggtcctggtgagggac	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1930-1932)Gtg>Atg									86	79	81					5																	140870737		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870737G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1930G>A	5.37:g.140870737G>A	ENSP00000252087:p.Val644Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.V644M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1930	+			644			Cadherin 6.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1930G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477826	0.44044	.	.	ENSG00000240764	ENST00000252087	T	0.21543	2.0	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000173	T	0.30978	0.0782	L	0.49350	1.555	0.30895	N	0.729866	D;P	0.56521	0.976;0.939	P;P	0.56563	0.779;0.801	T	0.30357	-0.9981	10	0.87932	D	0	.	8.2092	0.31473	0.083:0.2734:0.6435:0.0	.	644;644	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	644	ENSP00000252087:V644M	ENSP00000252087:V644M	V	+	1	0	PCDHGC5	140850921	0.453000	0.25721	1.000000	0.80357	0.994000	0.84299	1.513000	0.35823	2.753000	0.94483	0.655000	0.94253	GTG		0.597	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		63	252	0	0	0	1	0	63	252					A	140870737	G	A	140870737	3	1	79	1	0	0	0	0	1	0	0	0	11613	1261	44	2	1932	2	PCDHGC5	5	140870737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140870737	40044523	6656	16973											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcctcatacaccctcCtgagcgttcagaccttaccc	5	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	685					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACACCCTCCTGAGCGTTCA	0.537																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2053-2055)cCt>cAt									205	187	193					5																	140870861		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870861C>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2054C>A	5.37:g.140870861C>A	ENSP00000252087:p.Pro685His					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.P685H	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2054	+			685					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2054C>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840067	0.16891	.	.	ENSG00000240764	ENST00000252087	T	0.49720	0.77	4.7	3.76	0.43208	.	0.174914	0.28724	N	0.014353	T	0.45337	0.1337	L	0.46157	1.445	0.09310	N	1	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.195	T	0.43032	-0.9416	10	0.66056	D	0.02	.	10.9736	0.47452	0.1482:0.7223:0.1295:0.0	.	685;685	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	685	ENSP00000252087:P685H	ENSP00000252087:P685H	P	+	2	0	PCDHGC5	140851045	0.000000	0.05858	0.993000	0.49108	0.395000	0.30598	0.178000	0.16820	2.428000	0.82296	0.561000	0.74099	CCT		0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		163	827	1	0	2.03036e-78	1	2.59325e-78	163	827					A	140870861	C	A	140870861	3	1	79	1	0	0	0	0	1	0	0	0	11613	681	24	3	2056	3	PCDHGC5	5	140870861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124	140870861	40044399	6657	16974											
DIAPH1	1729	broad.mit.edu	37	chr5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcttacttaccttgaCggggccctctcttccgtcgg	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000398557.4	-	27	3796	c.3656G>A	c.(3655-3657)cGt>cAt	p.R1219H	DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3658-3660)cGt>cAt		diaphanous-related formin 1							90	95	93					5																	140903715		2039	4189	6228	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140903715C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3656G>A	5.37:g.140903715C>T	ENSP00000381565:p.Arg1219His					DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R1219H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H	p.R1220H			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		27	3799	-			1219			DAD.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3659G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639715	0.87760	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.83335	-1.69;-1.68;-1.57;-1.71;-1.7;-1.71;-1.7;-1.69	5.6	5.6	0.85130	Diaphanous autoregulatory (1);	0.060394	0.64402	D	0.000002	D	0.89515	0.6737	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.89446	0.3727	10	0.56958	D	0.05	.	18.3841	0.90461	0.0:1.0:0.0:0.0	.	1209;1210;1219	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	1216;1162;1195;1210;1211;1219;1220;1207	ENSP00000373706:R1216H;ENSP00000429282:R1162H;ENSP00000381570:R1195H;ENSP00000373709:R1210H;ENSP00000381572:R1211H;ENSP00000381565:R1219H;ENSP00000253811:R1220H;ENSP00000428268:R1207H	ENSP00000253811:R1220H	R	-	2	0	DIAPH1	140883899	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.183000	0.77697	2.647000	0.89833	0.650000	0.86243	CGT		0.532	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		77	322	0	0	0	1	0	77	322					T	140903715	C	T	140903715	3	4	79	1	0	0	0	0	1	0	0	0	4534	536	19	1	170	1	DIAPH1	5	140903715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32854	140903715	40011545	6658	16975											
DIAPH1	1729	broad.mit.edu	37	chr5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctccaccttcttgatcCttcttggctagcagggaaaa	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000398557.4	-	19	2630	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000494967.1_5'UTR	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	830	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2491-2493)aaG>aaT		diaphanous-related formin 1							139	126	130					5																	140913993		1818	4090	5908	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140913993C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2490G>T	5.37:g.140913993C>A	ENSP00000381565:p.Lys830Asn					DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K830N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000494967.1_5'UTR	p.K831N			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2633	-			830			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2493G>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439464	0.98286	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;D;T;D;T	0.83506	2.24;2.24;2.24;-0.15;-1.73;-0.15;-1.73;2.24	5.62	1.85	0.25348	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056142	0.64402	D	0.000002	D	0.88607	0.6482	M	0.78916	2.43	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.958;0.958	D	0.85853	0.1405	10	0.45353	T	0.12	.	8.7768	0.34767	0.0:0.5452:0.0:0.4547	.	773;821;830	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	N	827;773;806;821;822;830;831;818;269	ENSP00000373706:K827N;ENSP00000429282:K773N;ENSP00000381570:K806N;ENSP00000373709:K821N;ENSP00000381572:K822N;ENSP00000381565:K830N;ENSP00000253811:K831N;ENSP00000428268:K818N	ENSP00000253811:K831N	K	-	3	2	DIAPH1	140894177	0.955000	0.32602	1.000000	0.80357	0.975000	0.68041	-0.030000	0.12308	0.321000	0.23259	-0.145000	0.13849	AAG		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		58	254	1	0	1.14385e-22	1	1.29604e-22	58	254					A	140913993	C	A	140913993	3	1	79	1	0	0	0	0	1	0	0	0	4534	680	24	3	1368	3	DIAPH1	5	140913993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10278	140913993	40001267	6659	16976											
DIAPH1	1729	broad.mit.edu	37	chr5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtccaataaggaggCcaagccttcagcaccaaatg	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000398557.4	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(565-567)Gcc>Acc		diaphanous-related formin 1							166	160	162					5																	140962828		1935	4150	6085	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140962828C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.565G>A	5.37:g.140962828C>T	ENSP00000381565:p.Ala189Thr					DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T	p.A189T			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	705	-			189			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.565G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356752	0.61293	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.92	3.16	0.36331	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	N	0.25647	0.755	0.36354	D	0.860293	B;P	0.35192	0.429;0.489	B;B	0.25291	0.043;0.059	T	0.72487	-0.4278	10	0.48119	T	0.1	.	4.3467	0.11136	0.2726:0.5099:0.0:0.2175	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	T	189;135;180;180;180;189;189;180	ENSP00000373706:A189T;ENSP00000429282:A135T;ENSP00000381570:A180T;ENSP00000373709:A180T;ENSP00000381572:A180T;ENSP00000381565:A189T;ENSP00000253811:A189T;ENSP00000428268:A180T	ENSP00000253811:A189T	A	-	1	0	DIAPH1	140943012	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	1.064000	0.30579	0.394000	0.25230	0.650000	0.86243	GCC		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		143	552	0	0	0	1	0	143	552					T	140962828	C	T	140962828	3	4	79	1	0	0	0	0	1	0	0	0	4534	739	26	2	3345	2	DIAPH1	5	140962828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48835	140962828	39952432	6660	16977											
ARAP3	64411	broad.mit.edu	37	chr5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttatatttctccaggCgctgattcttctggggcagc	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000239440.4	-	21	3100	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1012	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCTCCAGGCGCTGATTCTT	0.572																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3034-3036)cGc>cAc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							70	75	73					5																	141041335		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041335C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3035G>A	5.37:g.141041335C>T	ENSP00000239440:p.Arg1012His					ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H	p.R1012H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			21	3100	-			1012			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3035G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408784	0.96072	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22743	1.94;1.94;1.94	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061089	0.64402	D	0.000011	T	0.59252	0.2180	M	0.93763	3.455	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.989	T	0.70059	-0.4976	10	0.87932	D	0	.	18.8077	0.92045	0.0:1.0:0.0:0.0	.	674;843;1012	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	843;1012;674	ENSP00000421826:R843H;ENSP00000239440:R1012H;ENSP00000421468:R674H	ENSP00000239440:R1012H	R	-	2	0	ARAP3	141021519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.156000	0.77453	2.777000	0.95525	0.655000	0.94253	CGC		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		136	532	0	0	0	1	0	136	532					T	141041335	C	T	141041335	3	4	79	1	0	0	0	0	1	0	0	0	840	768	27	1	1651	1	ARAP3	5	141041335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78507	141041335	39873925	6661	16978											
ARAP3	64411	broad.mit.edu	37	chr5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcaccacgaaggaggcCaaaccctgacagccagagac	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000239440.4	-	17	2538	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	825					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAAGGAGGCCAAACCCTGAC	0.706																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2473-2475)Ggc>Agc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							16	22	20					5																	141046090		2201	4299	6500	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141046090C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2473G>A	5.37:g.141046090C>T	ENSP00000239440:p.Gly825Ser					ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S	p.G825S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			17	2538	-			825					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2473G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491677	0.64074	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.53	5.53	0.82687	Pleckstrin homology domain (1);	0.240387	0.40302	N	0.001133	T	0.37156	0.0993	N	0.22421	0.69	0.36747	D	0.882547	D;D;D	0.67145	0.979;0.996;0.993	P;P;P	0.61477	0.69;0.889;0.777	T	0.42498	-0.9448	10	0.66056	D	0.02	.	12.3757	0.55279	0.2788:0.7212:0.0:0.0	.	487;727;825	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	727;825;487	ENSP00000421826:G727S;ENSP00000239440:G825S;ENSP00000421468:G487S	ENSP00000239440:G825S	G	-	1	0	ARAP3	141026274	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	5.232000	0.65332	2.593000	0.87608	0.655000	0.94253	GGC		0.706	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		20	95	0	0	0	1	0	20	95					T	141046090	C	T	141046090	3	4	79	1	0	0	0	0	1	0	0	0	840	594	21	2	2229	2	ARAP3	5	141046090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	141046090	39869170	6662	16979											
ARAP3	64411	broad.mit.edu	37	chr5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttccatggcactatctgAtttgggatccagggagccct	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000239440.4	-	2	288	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	75					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACTATCTGATTTGGGATCC	0.632																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(223-225)Tca>Cca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							87	93	91					5																	141059831		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059831A>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.223T>C	5.37:g.141059831A>G	ENSP00000239440:p.Ser75Pro					ARAP3_ENST00000508305.1_5'UTR	p.S75P	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	288	-			75					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.223T>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	2.403	-0.337227	0.05278	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	T;T	0.58652	3.17;0.32	4.35	-1.53	0.08611	.	1.612410	0.03777	N	0.260768	T	0.36248	0.0960	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.29301	T	0.29	.	8.6091	0.33791	0.3899:0.0:0.6101:0.0	.	75	Q8WWN8	ARAP3_HUMAN	P	75	ENSP00000239440:S75P;ENSP00000421148:S75P	ENSP00000239440:S75P	S	-	1	0	ARAP3	141040015	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.024000	0.13555	-0.140000	0.11394	0.374000	0.22700	TCA		0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		131	557	0	0	0	1	0	131	557					G	141059831	A	G	141059831	3	3	79	1	0	0	0	0	1	0	0	0	840	333	12	4	4539	4	ARAP3	5	141059831	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13741	141059831	39855429	6663	16980											
ARAP3	64411	broad.mit.edu	37	chr5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccaggccccgggctgCacctgctgtagccaggccat	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000239440.4	-	2	168	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	35	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCGGGCTGCACCTGCTGTA	0.647																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(103-105)Gca>Aca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							53	52	52					5																	141059951		2203	4299	6502	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059951C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.103G>A	5.37:g.141059951C>T	ENSP00000239440:p.Ala35Thr					ARAP3_ENST00000508305.1_5'UTR	p.A35T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	168	-			35			SAM.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.103G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652939	0.88056	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.85702	-2.02;-0.02	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.080522	0.47093	D	0.000241	D	0.86464	0.5939	L	0.41356	1.27	0.80722	D	1	P	0.51791	0.948	P	0.57371	0.819	D	0.87025	0.2131	10	0.52906	T	0.07	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	35	Q8WWN8	ARAP3_HUMAN	T	35	ENSP00000239440:A35T;ENSP00000421148:A35T	ENSP00000239440:A35T	A	-	1	0	ARAP3	141040135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.638000	0.54332	2.272000	0.75746	0.462000	0.41574	GCA		0.647	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		69	296	0	0	0	1	0	69	296					T	141059951	C	T	141059951	3	4	79	1	0	0	0	0	1	0	0	0	840	710	25	2	4659	2	ARAP3	5	141059951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	141059951	39855309	6664	16981											
PCDH1	5097	broad.mit.edu	37	chr5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtttcccttggagGccttgccactgggcttgggg	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000394536.3	-	3	2853	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000287008.3_Missense_Mutation_p.A905V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	905					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2713-2715)gCc>gTc		protocadherin 1							99	100	100					5																	141243182		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243182G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2714C>T	5.37:g.141243182G>A	ENSP00000378043:p.Ala905Val					PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.A905V|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000503492.1_Intron	p.A905V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2861	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	905					Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2714C>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761876	0.15914	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.75	2.83	0.33086	Protocadherin (1);	0.408346	0.20264	N	0.095810	T	0.12646	0.0307	N	0.08118	0	0.29329	N	0.866811	B;B	0.29301	0.183;0.241	B;B	0.27887	0.084;0.037	T	0.06972	-1.0797	10	0.49607	T	0.09	.	2.4986	0.04628	0.1119:0.1948:0.5167:0.1765	.	905;905	Q08174;Q08174-2	PCDH1_HUMAN;.	V	905;905;893;916;883	ENSP00000287008:A905V;ENSP00000378043:A905V;ENSP00000403497:A893V;ENSP00000350122:A916V;ENSP00000438825:A883V	ENSP00000287008:A905V	A	-	2	0	PCDH1	141223366	0.876000	0.30132	1.000000	0.80357	0.988000	0.76386	1.925000	0.40074	1.179000	0.42884	0.457000	0.33378	GCC		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		168	668	0	0	0	1	0	168	668					A	141243182	G	A	141243182	3	1	79	1	0	0	0	0	1	0	0	0	11548	1203	42	2	1095	2	PCDH1	5	141243182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183231	141243182	39672078	6665	16982											
PCDH1	5097	broad.mit.edu	37	chr5	141248692	141248692	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacggagcccctcacggtcGatggaggtctcggtggtgaa	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000394536.3	-	2	484	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000287008.3_Silent_p.I115I|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(343-345)atC>atT		protocadherin 1							79	76	77					5																	141248692		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248692G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.345C>T	5.37:g.141248692G>A						PCDH1_ENST00000394536.3_Silent_p.I115I|PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I	p.I115I	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	492	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	115			Cadherin 1.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.345C>T	CCDS43375.1																																																																																				0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		40	202	0	0	0	1	0	40	202					A	141248692	G	A	141248692	2	1	79	1	0	0	0	0	0	0	0	1	11548	1048	37	1		1	PCDH1	5	141248692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5510	141248692	39666568	6666	16983											
KIAA0141	9812	broad.mit.edu	37	chr5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatctaggtcaggtccccAtggcccaggcacgagcgggg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	53					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCCCCATGGCCCAGGC	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(157-159)cAt>cGt		KIAA0141							104	82	89					5																	141304986		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141304986A>G	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.158A>G	5.37:g.141304986A>G	ENSP00000396225:p.His53Arg					KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	292	+		all_hematologic(541;0.118)	53					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.158A>G	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378680	0.42207	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18338	2.71;2.71;2.22	4.85	-0.695	0.11291	.	0.672812	0.13581	N	0.377363	T	0.14700	0.0355	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.62326	D	0.03	-0.4811	3.2757	0.06897	0.5377:0.0:0.2902:0.1721	.	53	Q14154	DELE_HUMAN	R	53	ENSP00000396225:H53R;ENSP00000194118:H53R;ENSP00000422686:H53R	ENSP00000194118:H53R	H	+	2	0	KIAA0141	141285170	0.001000	0.12720	0.160000	0.22671	0.498000	0.33706	0.678000	0.25277	-0.030000	0.13804	0.374000	0.22700	CAT		0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		59	280	0	0	0	1	0	59	280					G	141304986	A	G	141304986	3	3	79	1	0	0	0	0	1	0	0	0	8186	217	8	4	168	4	KIAA0141	5	141304986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56294	141304986	39610274	6667	16984											
KIAA0141	9812	broad.mit.edu	37	chr5	141312861	141312861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcgaccacacggcagcCttttcttacttccagaaagc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000506775.1_3'UTR|KIAA0141_ENST00000194118.4_Silent_p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	264					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCAGCCTTTTCTTACT	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(790-792)gcC>gcT		KIAA0141							76	77	77					5																	141312861		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141312861C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.792C>T	5.37:g.141312861C>T						KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	926	+		all_hematologic(541;0.118)	264					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.792C>T	CCDS4268.1																																																																																				0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		68	309	0	0	0	1	0	68	309					T	141312861	C	T	141312861	2	4	79	1	0	0	0	0	0	0	0	1	8186	668	24	2		2	KIAA0141	5	141312861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7875	141312861	39602399	6668	16985											
PCDH12	51294	broad.mit.edu	37	chr5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgaccgtgtcttgcaGcacctctcggctctccgccg	12	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	842					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTTGCAGCACCTCTCGG	0.652																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2524-2526)Ctg>Atg		protocadherin 12							79	75	77					5																	141334893		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334893G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2524C>A	5.37:g.141334893G>T	ENSP00000231484:p.Leu842Met						p.L842M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3734	-		all_hematologic(541;0.0999)	842					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2524C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662690	0.47572	.	.	ENSG00000113555	ENST00000231484	T	0.55588	0.51	5.07	3.14	0.36123	.	0.316056	0.26065	N	0.026552	T	0.58694	0.2140	L	0.60455	1.87	0.29589	N	0.848538	D	0.67145	0.996	P	0.59703	0.862	T	0.55970	-0.8056	10	0.54805	T	0.06	.	6.1411	0.20261	0.2281:0.0:0.7719:0.0	.	842	Q9NPG4	PCD12_HUMAN	M	842	ENSP00000231484:L842M	ENSP00000231484:L842M	L	-	1	2	PCDH12	141315077	0.998000	0.40836	0.933000	0.37362	0.209000	0.24338	3.312000	0.51927	1.381000	0.46364	0.561000	0.74099	CTG		0.652	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		61	339	1	0	6.60958e-23	1	7.49606e-23	61	339					T	141334893	G	T	141334893	3	4	79	1	0	0	0	0	1	0	0	0	11552	962	34	3	1046	3	PCDH12	5	141334893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22032	141334893	39580367	6669	16986											
PCDH12	51294	broad.mit.edu	37	chr5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctggggcctcttggGctgctggcggtaggtggact	18	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	763					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCTTGGGCTGCTGGCGG	0.587																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2287-2289)Ccc>Tcc		protocadherin 12							64	54	58					5																	141335130		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335130G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2287C>T	5.37:g.141335130G>A	ENSP00000231484:p.Pro763Ser						p.P763S	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3497	-		all_hematologic(541;0.0999)	763					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2287C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892165	0.72524	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	.	0.062472	0.64402	D	0.000004	T	0.65842	0.2730	M	0.73962	2.25	0.50813	D	0.999894	D	0.69078	0.997	D	0.64042	0.921	T	0.66073	-0.6014	10	0.41790	T	0.15	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	763	Q9NPG4	PCD12_HUMAN	S	763	ENSP00000231484:P763S	ENSP00000231484:P763S	P	-	1	0	PCDH12	141315314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	CCC		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		51	248	0	0	0	1	0	51	248					A	141335130	G	A	141335130	3	1	79	1	0	0	0	0	1	0	0	0	11552	1203	42	2	1283	2	PCDH12	5	141335130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	141335130	39580130	6670	16987											
PCDH12	51294	broad.mit.edu	37	chr5	141335291	141335291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgacatgctcaaggccccaGgcttgcgggctgagtccctc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335291G>T	ENST00000231484.3	-	1	3336	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	709	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCCCCAGGCTTGCGGGC	0.587																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2125-2127)cCt>cAt		protocadherin 12							51	42	45					5																	141335291		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335291G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2126C>A	5.37:g.141335291G>T	ENSP00000231484:p.Pro709His						p.P709H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3336	-		all_hematologic(541;0.0999)	709			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2126C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645319	0.03531	.	.	ENSG00000113555	ENST00000231484	T	0.56275	0.47	5.3	3.47	0.39725	Cadherin (1);	0.379762	0.27677	N	0.018320	T	0.50343	0.1610	M	0.67953	2.075	0.09310	N	1	P	0.52842	0.956	B	0.43916	0.436	T	0.50110	-0.8866	10	0.72032	D	0.01	.	8.0716	0.30693	0.0838:0.0:0.7579:0.1584	.	709	Q9NPG4	PCD12_HUMAN	H	709	ENSP00000231484:P709H	ENSP00000231484:P709H	P	-	2	0	PCDH12	141315475	0.210000	0.23517	0.010000	0.14722	0.152000	0.21847	3.035000	0.49759	0.776000	0.33473	0.655000	0.94253	CCT		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	132	1	0	0.0215528	1	0.0216335	5	132					T	141335291	G	T	141335291	3	4	79	1	0	0	0	0	1	0	0	0	11552	1000	35	3	1444	3	PCDH12	5	141335291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	141335291	39579969	6671	16988											
PCDH12	51294	broad.mit.edu	37	chr5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacatccacctcgtaggcaGggttcttttcatagtctaga	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGGCAGGGTTCTTTTC	0.512																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(946-948)cCt>cAt		protocadherin 12							70	63	66					5																	141336470		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336470G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.947C>A	5.37:g.141336470G>T	ENSP00000231484:p.Pro316His						p.P316H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	-		all_hematologic(541;0.0999)	316			Cadherin 3.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.947C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508335	0.12883	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.415449	0.27100	N	0.020930	T	0.46619	0.1402	L	0.37697	1.125	0.19945	N	0.99994	B	0.18610	0.029	B	0.18263	0.021	T	0.32877	-0.9890	10	0.39692	T	0.17	.	11.2965	0.49282	0.0:0.0:0.8184:0.1816	.	316	Q9NPG4	PCD12_HUMAN	H	316	ENSP00000231484:P316H	ENSP00000231484:P316H	P	-	2	0	PCDH12	141316654	0.132000	0.22450	0.993000	0.49108	0.774000	0.43823	2.647000	0.46639	2.731000	0.93534	0.655000	0.94253	CCT		0.512	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	321	1	0	1.15088e-07	1	1.19614e-07	16	321					T	141336470	G	T	141336470	3	4	79	1	0	0	0	0	1	0	0	0	11552	1000	35	3	2623	3	PCDH12	5	141336470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	141336470	39578790	6672	16989											
PCDH12	51294	broad.mit.edu	37	chr5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggccccaaaagccccaGcagaagttgcagaagttgca	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	9					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCCCAGCAGAAGTTGC	0.498																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(25-27)Ctg>Atg		protocadherin 12							62	69	67					5																	141337392		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141337392G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.25C>A	5.37:g.141337392G>T	ENSP00000231484:p.Leu9Met						p.L9M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1235	-		all_hematologic(541;0.0999)	9					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.25C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817293	0.50633	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.55588	0.51	4.72	3.83	0.44106	.	0.089843	0.46758	D	0.000273	T	0.63307	0.2500	L	0.54323	1.7	0.30373	N	0.782712	D	0.76494	0.999	D	0.68765	0.96	T	0.61322	-0.7086	10	0.46703	T	0.11	.	10.9922	0.47555	0.0943:0.0:0.9057:0.0	.	9	Q9NPG4	PCD12_HUMAN	M	9	ENSP00000231484:L9M	ENSP00000231484:L9M	L	-	1	2	PCDH12	141317576	0.526000	0.26298	1.000000	0.80357	0.956000	0.61745	0.819000	0.27308	2.465000	0.83290	0.462000	0.41574	CTG		0.498	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		15	533	1	0	3.27435e-08	1	3.41456e-08	15	533					T	141337392	G	T	141337392	3	4	79	1	0	0	0	0	1	0	0	0	11552	962	34	3	3545	3	PCDH12	5	141337392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	922	141337392	39577868	6673	16990											
GNPDA1	10007	broad.mit.edu	37	chr5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcaaggccatggtgGgcaccttggtgagttctcca	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000508177.1	-	4	1303	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	182					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(544-546)cCc>cTc		glucosamine-6-phosphate deaminase 1							46	41	43					5																	141384546		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384546G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.545C>T	5.37:g.141384546G>A	ENSP00000423674:p.Pro182Leu					GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L	p.P182L			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1303	-		all_hematologic(541;0.118)	182					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.545C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395760	0.96009	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.81247	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.47;-0.86	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95723	0.8768	10	0.87932	D	0	-14.6887	20.1187	0.97949	0.0:0.0:1.0:0.0	.	148;182	E7EVU7;P46926	.;GNPI1_HUMAN	L	182;182;148;182;182;182;105;203	ENSP00000423494:P182L;ENSP00000311876:P182L;ENSP00000387718:P148L;ENSP00000424275:P182L;ENSP00000423674:P182L;ENSP00000423485:P182L;ENSP00000445143:P105L;ENSP00000421524:P203L	ENSP00000311876:P182L	P	-	2	0	GNPDA1	141364730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCC		0.587	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		16	90	0	0	0	1	0	16	90					A	141384546	G	A	141384546	3	1	79	1	0	0	0	0	1	0	0	0	6571	1232	43	2	336	2	GNPDA1	5	141384546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47154	141384546	39530714	6674	16991											
GNPDA1	10007	broad.mit.edu	37	chr5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcctggctcgttgaagGcaatgtgtccatcagggccg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000508177.1	-	4	1192	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	145					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(433-435)gCc>gTc		glucosamine-6-phosphate deaminase 1							55	48	50					5																	141384657		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384657G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.434C>T	5.37:g.141384657G>A	ENSP00000423674:p.Ala145Val					GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V	p.A145V			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1192	-		all_hematologic(541;0.118)	145					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.434C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492421	0.96339	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	4.97	0.65823	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	H	0.97659	4.05	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69307	0.831;0.963	D	0.89652	0.3870	10	0.87932	D	0	-15.799	14.9374	0.70967	0.0688:0.0:0.9312:0.0	.	111;145	E7EVU7;P46926	.;GNPI1_HUMAN	V	145;145;111;145;145;145;145;166;145	ENSP00000423494:A145V;ENSP00000311876:A145V;ENSP00000387718:A111V;ENSP00000424275:A145V;ENSP00000423674:A145V;ENSP00000423485:A145V;ENSP00000424625:A145V;ENSP00000421524:A166V;ENSP00000424537:A145V	ENSP00000311876:A145V	A	-	2	0	GNPDA1	141364841	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.477000	0.48234	0.591000	0.81541	GCC		0.562	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		28	91	0	0	0	1	0	28	91					A	141384657	G	A	141384657	3	1	79	1	0	0	0	0	1	0	0	0	6571	1203	42	2	447	2	GNPDA1	5	141384657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	141384657	39530603	6675	16992											
GNPDA1	10007	broad.mit.edu	37	chr5	141384674	141384674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaatgtgtccatcaggGccgatgcctatagggagaga	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000508177.1	-	4	1175	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(415-417)ggC>ggT		glucosamine-6-phosphate deaminase 1							49	44	45					5																	141384674		2203	4300	6503	SO:0001819	synonymous_variant	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384674G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.417C>T	5.37:g.141384674G>A						GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000513454.1_Silent_p.G139G	p.G139G			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1175	-		all_hematologic(541;0.118)	139					B7Z3X4|D3DQE7	Silent	SNP	ENST00000508177.1	37	c.417C>T	CCDS4272.1																																																																																				0.557	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		18	101	0	0	0	1	0	18	101					A	141384674	G	A	141384674	2	1	79	1	0	0	0	0	0	0	0	1	6571	1190	42	2		2	GNPDA1	5	141384674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	141384674	39530586	6676	16993											
NDFIP1	80762	broad.mit.edu	37	chr5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggctgaagctactatccCtttggttcctgggagagtga	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	89					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(265-267)cCt>cAt		Nedd4 family interacting protein 1							174	159	164					5																	141511891		2203	4300	6503	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141511891C>A	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.266C>A	5.37:g.141511891C>A	ENSP00000253814:p.Pro89His					NDFIP1_ENST00000509436.1_Intron	p.P89H	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	736	+		all_hematologic(541;0.0999)	89					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.266C>A	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858703	0.91433	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.53	5.53	0.82687	.	0.100365	0.64402	D	0.000001	T	0.79913	0.4528	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80944	-0.1156	9	0.87932	D	0	-15.0688	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9BT67	NFIP1_HUMAN	H	89	.	ENSP00000253814:P89H	P	+	2	0	NDFIP1	141492075	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.338000	0.79269	2.771000	0.95319	0.591000	0.81541	CCT		0.423	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		118	399	1	0	9.21594e-48	1	1.13546e-47	118	399					A	141511891	C	A	141511891	3	1	79	1	0	0	0	0	1	0	0	0	10287	681	24	3	276	3	NDFIP1	5	141511891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127217	141511891	39403369	6677	16994											
NDFIP1	80762	broad.mit.edu	37	chr5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcctgtttctcagaGgatttatcaattatgcaaaa	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	195					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(583-585)Gga>Tga		Nedd4 family interacting protein 1							89	104	99					5																	141524156		2194	4295	6489	SO:0001587	stop_gained	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141524156G>T	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.583G>T	5.37:g.141524156G>T	ENSP00000253814:p.Gly195*						p.G195*	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1053	+		all_hematologic(541;0.0999)	195					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Nonsense_Mutation	SNP	ENST00000253814.4	37	c.583G>T	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	G	42	9.550999	0.99202	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1228	19.5914	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000253814:G195X	G	+	1	0	NDFIP1	141504340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.708000	0.92522	0.563000	0.77884	GGA		0.343	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		134	654	1	0	1.73106e-74	1	2.20561e-74	134	654					T	141524156	G	T	141524156	4	4	79	1	0	0	0	0	0	1	0	0	10287	1001	35	3	609	3	NDFIP1	5	141524156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12265	141524156	39391104	6678	16995											
NR3C1	2908	broad.mit.edu	37	chr5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaacctgaagagagaaGcagtaaggttttcatacaga	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	671	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAAGAGAGAAGCAGTAAGGTT	0.363																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2011-2013)Ctt>Att		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						132	115	121					5																	142675037		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142675037G>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2011C>A	5.37:g.142675037G>T	ENSP00000343205:p.Leu671Ile					NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I	p.L671I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		7	3004	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	671			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.2011C>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091873	0.94149	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.97303	-4.33;-4.33;-0.01;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.86097	2.795	0.80722	D	1	D;P;D	0.76494	0.998;0.835;0.999	D;P;D	0.97110	1.0;0.891;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	671;671;672	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	671;671;671;645;672;672;672;274;671	ENSP00000377977:L671I;ENSP00000343205:L671I;ENSP00000387672:L671I;ENSP00000405282:L645I;ENSP00000422518:L672I;ENSP00000377979:L672I;ENSP00000231509:L672I;ENSP00000404218:L274I;ENSP00000427672:L671I	ENSP00000231509:L672I	L	-	1	0	NR3C1	142655230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.649000	0.89929	0.585000	0.79938	CTT		0.363	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			53	213	1	0	3.76628e-20	1	4.21522e-20	53	213					T	142675037	G	T	142675037	3	4	79	1	0	0	0	0	1	0	0	0	10672	971	34	3	386	3	NR3C1	5	142675037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150881	142675037	38240223	6679	16996											
NR3C1	2908	broad.mit.edu	37	chr5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaggagctggatggaggaGagcttacatctggtctcatg	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000504336.1_5'UTR	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	404	Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGATGGAGGAGAGCTTACATC	0.448																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1210-1212)tCt>tAt		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						170	153	159					5																	142693707		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142693707G>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1211C>A	5.37:g.142693707G>T	ENSP00000343205:p.Ser404Tyr					NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR	p.S404Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2204	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	404			Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.1211C>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456715	0.84317	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.86230	-1.68;-1.68;-1.63;-1.73;-1.68;-1.68;-1.68;-2.09;-1.68	5.72	5.72	0.89469	.	0.119693	0.64402	D	0.000013	D	0.91835	0.7416	L	0.48877	1.53	0.46336	D	0.998995	D;D;D	0.71674	0.994;0.998;0.993	P;D;P	0.78314	0.825;0.991;0.866	D	0.91925	0.5550	10	0.66056	D	0.02	.	19.8658	0.96803	0.0:0.0:1.0:0.0	.	404;404;404	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	404;404;404;404;378;404;404;404;7;404	ENSP00000377977:S404Y;ENSP00000343205:S404Y;ENSP00000387672:S404Y;ENSP00000405282:S378Y;ENSP00000422518:S404Y;ENSP00000377979:S404Y;ENSP00000231509:S404Y;ENSP00000404218:S7Y;ENSP00000427672:S404Y	ENSP00000231509:S404Y	S	-	2	0	NR3C1	142673900	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.363000	0.73082	2.696000	0.92011	0.650000	0.86243	TCT		0.448	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			39	159	1	0	2.19358e-23	1	2.49351e-23	39	159					T	142693707	G	T	142693707	3	4	79	1	0	0	0	0	1	0	0	0	10672	942	33	3	1205	3	NR3C1	5	142693707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18670	142693707	38221553	6680	16997											
SH3RF2	153769	broad.mit.edu	37	chr5	145393591	145393591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatcacccagcccatggaGaaagcagacgttccttccag	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	342					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1024-1026)gaG>gaA		SH3 domain containing ring finger 2							99	98	98					5																	145393591		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393591G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1026G>A	5.37:g.145393591G>A						SH3RF2_ENST00000359120.4_Silent_p.E342E	p.E342E			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1078	+			342					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1026G>A	CCDS4280.1																																																																																				0.552	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		100	487	0	0	0	1	0	100	487					A	145393591	G	A	145393591	2	1	79	1	0	0	0	0	0	0	0	1	14309	933	33	2		2	SH3RF2	5	145393591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2699884	145393591	35521669	6681	16998											
LARS	51520	broad.mit.edu	37	chr5	145509704	145509704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccacagccaattcacgGtacttatcttttgcggccta	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000545646.1_Silent_p.Y789Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	835					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(2503-2505)taC>taT		leucyl-tRNA synthetase	L-Leucine(DB00149)						97	89	91					5																	145509704		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145509704G>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2505C>T	5.37:g.145509704G>A						LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000545646.1_Silent_p.Y789Y|LARS_ENST00000274562.9_Silent_p.Y808Y	p.Y835Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	2671	-			835					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.2505C>T	CCDS34265.1																																																																																				0.378	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		61	353	0	0	0	1	0	61	353					A	145509704	G	A	145509704	2	1	79	1	0	0	0	0	0	0	0	1	8665	1256	44	2		2	LARS	5	145509704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116113	145509704	35405556	6682	16999											
RBM27	54439	broad.mit.edu	37	chr5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatggtggtggaccatcGtcccaaagcactaacagttg	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	974					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGACCATCGTCCCAAAGCA	0.468																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2920-2922)cGt>cAt		RNA binding motif protein 27							147	143	144					5																	145651170		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651170G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2921G>A	5.37:g.145651170G>A	ENSP00000265271:p.Arg974His					RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	p.R974H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3087	+			974					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2921G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228901	0.95173	.	.	ENSG00000091009	ENST00000265271	D	0.83075	-1.68	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.92034	0.7476	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93196	0.6587	10	0.87932	D	0	-6.646	18.7687	0.91882	0.0:0.0:1.0:0.0	.	974	Q9P2N5	RBM27_HUMAN	H	974	ENSP00000265271:R974H	ENSP00000265271:R974H	R	+	2	0	RBM27	145631363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.005000	0.93587	2.517000	0.84864	0.650000	0.86243	CGT		0.468	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		57	297	0	0	0	1	0	57	297					A	145651170	G	A	145651170	3	1	79	1	0	0	0	0	1	0	0	0	13177	1145	40	1	2995	1	RBM27	5	145651170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141466	145651170	35264090	6683	17000											
POU4F3	5459	broad.mit.edu	37	chr5	145719317	145719317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcacaccctcaccaCgccgtgcaccagggcctcga	7	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145719317C>T	ENST00000230732.4	+	2	416	c.327C>T	c.(325-327)caC>caT	p.H109H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	109					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTCACCACGCCGTGCACC	0.677																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(325-327)caC>caT		POU class 4 homeobox 3							127	109	115					5																	145719317		2203	4300	6503	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719317C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.327C>T	5.37:g.145719317C>T						CTC-359M8.1_ENST00000515598.1_RNA	p.H109H	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	416	+			109					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.327C>T	CCDS4281.1																																																																																				0.677	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		8	422	0	0	0	1	0	8	422					T	145719317	C	T	145719317	2	4	79	1	0	0	0	0	0	0	0	1	12322	535	19	1		1	POU4F3	5	145719317	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68147	145719317	35195943	6684	17001											
TCERG1	10915	broad.mit.edu	37	chr5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggcccaggcccagGcccaggcccaagcccaagcc	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggccca	0.726																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(655-657)Gcc>Acc		transcription elongation regulator 1							11	15	14					5																	145838663		2194	4281	6475	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838663G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.655G>A	5.37:g.145838663G>A	ENSP00000296702:p.Ala219Thr					TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	693	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	219			Ala/Gln-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.655G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467777	0.04476	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	3.14	3.14	0.36123	.	0.000000	0.48767	D	0.000167	T	0.20577	0.0495	N	0.19112	0.55	0.26706	N	0.971071	B;B;B	0.21225	0.053;0.007;0.004	B;B;B	0.10450	0.005;0.002;0.001	T	0.12708	-1.0537	10	0.11794	T	0.64	-1.3402	12.081	0.53671	0.0:0.0:1.0:0.0	.	219;219;219	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	219	ENSP00000296702:A219T;ENSP00000377943:A219T	ENSP00000296702:A219T	A	+	1	0	TCERG1	145818856	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	2.966000	0.49208	1.721000	0.51461	0.462000	0.41574	GCC		0.726	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		49	225	0	0	0	1	0	49	225					A	145838663	G	A	145838663	3	1	79	1	0	0	0	0	1	0	0	0	15737	1203	42	2	669	2	TCERG1	5	145838663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119346	145838663	35076597	6685	17002											
TCERG1	10915	broad.mit.edu	37	chr5	145838887	145838887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaactgctacttcagttgcGcagacagtatcaagtgagta	9	9	2	2	rs371433599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	293	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGTTGCGCAGACAGTAT	0.468																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(877-879)gcG>gcA		transcription elongation regulator 1							155	143	147					5																	145838887		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838887G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.879G>A	5.37:g.145838887G>A						TCERG1_ENST00000394421.2_Silent_p.A293A	p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	917	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	293			Thr-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.879G>A	CCDS4282.1																																																																																				0.468	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		124	528	0	0	0	1	0	124	528					A	145838887	G	A	145838887	2	1	79	1	0	0	0	0	0	0	0	1	15737	1074	38	1		1	TCERG1	5	145838887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	145838887	35076373	6686	17003											
TCERG1	10915	broad.mit.edu	37	chr5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttatcagcacccacaAcacaagatcagaccccaagt	4	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	301	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCCACAACACAAGATCA	0.388																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(901-903)Aca>Gca		transcription elongation regulator 1							191	189	190					5																	145843122		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843122A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.901A>G	5.37:g.145843122A>G	ENSP00000296702:p.Thr301Ala					TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	939	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	301			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.901A>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196428	0.38806	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.59	5.39	5.39	0.77823	.	0.158654	0.47093	D	0.000244	T	0.18257	0.0438	L	0.27053	0.805	0.33838	D	0.631074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19353	-1.0308	10	0.07325	T	0.83	-7.9798	9.8517	0.41061	0.9233:0.0:0.0767:0.0	.	301;301;301	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	301	ENSP00000296702:T301A;ENSP00000377943:T301A	ENSP00000296702:T301A	T	+	1	0	TCERG1	145823315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	2.027000	0.59764	0.460000	0.39030	ACA		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		147	799	0	0	0	1	0	147	799					G	145843122	A	G	145843122	3	3	79	1	0	0	0	0	1	0	0	0	15737	43	2	4	919	4	TCERG1	5	145843122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4235	145843122	35072138	6687	17004											
TCERG1	10915	broad.mit.edu	37	chr5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C													tctgaatggactgaatataaAacagcagatgggaagacata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	439	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAATATAAAACAGCAGATG	0.393																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1315-1317)aaA>aaC		transcription elongation regulator 1							123	137	132					5																	145849225		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849225A>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1317A>C	5.37:g.145849225A>C	ENSP00000296702:p.Lys439Asn					TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	p.K439N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1355	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	439			WW 2.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1317A>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047626	0.55110	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.82526	-1.62;-1.62	5.71	2.04	0.26737	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.62209	1.925	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.989;0.991	D;D;D	0.85130	0.997;0.978;0.987	D	0.85526	0.1206	10	0.72032	D	0.01	-21.9365	9.2165	0.37351	0.7945:0.0:0.2055:0.0	.	418;418;439	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	439;418	ENSP00000296702:K439N;ENSP00000377943:K418N	ENSP00000296702:K439N	K	+	3	2	TCERG1	145829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.119000	0.18210	0.460000	0.39030	AAA		0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		196	838	0	0	0	1	0	196	838					C	145849225	A	C	145849225	3	2	79	1	0	0	0	0	1	0	0	0	15737	11	1	4	1343	4	TCERG1	5	145849225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6103	145849225	35066035	6688	17005	100	2									
TCERG1	10915	broad.mit.edu	37	chr5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A													ggactgaatataaaacagcaGatgggaagacatattattat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	442	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAACAGCAGATGGGAAGAC	0.383																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1324-1326)Gat>Aat		transcription elongation regulator 1							111	125	120					5																	145849232		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849232G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1324G>A	5.37:g.145849232G>A	ENSP00000296702:p.Asp442Asn					TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	p.D442N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1362	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	442			WW 2.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1324G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795679	0.90453	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.48877	1.53	0.80722	D	1	D;D;D	0.59767	0.986;0.965;0.972	P;P;P	0.61800	0.894;0.558;0.685	D	0.87553	0.2466	10	0.52906	T	0.07	-21.2535	19.8493	0.96733	0.0:0.0:1.0:0.0	.	421;421;442	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	442;421	ENSP00000296702:D442N;ENSP00000377943:D421N	ENSP00000296702:D442N	D	+	1	0	TCERG1	145829425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	GAT		0.383	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		199	773	0	0	0	1	0	199	773					A	145849232	G	A	145849232	3	1	79	1	0	0	0	0	1	0	0	0	15737	942	33	2	1350	2	TCERG1	5	145849232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	145849232	35066028	6689	17006	100	2									
TCERG1	10915	broad.mit.edu	37	chr5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgaaaagatgaaagacCgagaagccttgtttaatgag	10	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	769	FF 2.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2305-2307)Cga>Tga		transcription elongation regulator 1							109	112	111					5																	145878172		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145878172C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2305C>T	5.37:g.145878172C>T	ENSP00000296702:p.Arg769*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	p.R769*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2343	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	769			FF 2.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.2305C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.176446	0.98114	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.51	1.38	0.22167	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5545	15.1655	0.72821	0.4949:0.5051:0.0:0.0	.	.	.	.	X	769;748	.	ENSP00000296702:R769X	R	+	1	2	TCERG1	145858365	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.224000	0.32539	0.017000	0.15025	0.655000	0.94253	CGA		0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		41	158	0	0	0	1	0	41	158					T	145878172	C	T	145878172	4	4	79	1	0	0	0	0	0	1	0	0	15737	644	23	1	2367	1	TCERG1	5	145878172	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28940	145878172	35037088	6690	17007											
GPR151	134391	broad.mit.edu	37	chr5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacttttggagtacgccGtagctcggataggtgcagaa	12	8	0	1	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502													G|||	6	0.00119808	0.0045	0.0	5008	,	,		22339	0.0		0.0	False		,,,				2504	0.0				Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(289-291)aCg>aTg		G protein-coupled receptor 151		G	MET/THR	8,4398	15.5+/-35.6	0,8,2195	124	122	122		290	3.1	0.8	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense	GPR151	NM_194251.2	81	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	possibly-damaging	97/420	145895387	8,12998	2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895387G>A	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.290C>T	5.37:g.145895387G>A	ENSP00000308733:p.Thr97Met						p.T97M	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	366	-			97					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.290C>T	CCDS34266.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.28	1.592329	0.28357	0.001816	0.0	ENSG00000173250	ENST00000311104	T	0.72835	-0.69	5.88	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.173248	0.49305	D	0.000160	T	0.63414	0.2509	L	0.43152	1.355	0.28914	N	0.892557	P	0.48694	0.914	P	0.44732	0.459	T	0.60342	-0.7282	10	0.56958	D	0.05	.	9.0746	0.36513	0.2537:0.0:0.7463:0.0	.	97	Q8TDV0	GP151_HUMAN	M	97	ENSP00000308733:T97M	ENSP00000308733:T97M	T	-	2	0	GPR151	145875580	0.989000	0.36119	0.829000	0.32907	0.275000	0.26752	2.436000	0.44819	0.349000	0.23975	-0.140000	0.14226	ACG		0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		72	282	0	0	0	1	0	72	282					A	145895387	G	A	145895387	3	1	79	1	0	0	0	0	1	0	0	0	6686	1145	40	1	973	1	GPR151	5	145895387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17215	145895387	35019873	6691	17008											
STK32A	202374	broad.mit.edu	37	chr5	146703542	146703542	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcgttatcacctgcaacaGaacgtccacttcaaggaaga	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000397936.3	+	5	675	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000398523.3_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCAACAGAACGTCCACT	0.498																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(340-342)caG>caA		serine/threonine kinase 32A							66	70	68					5																	146703542		2156	4290	6446	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146703542G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.342G>A	5.37:g.146703542G>A						STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000398523.3_Silent_p.Q114Q	p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	675	+			114			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.342G>A	CCDS47299.1																																																																																				0.498	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		11	118	0	0	0	1	0	11	118					A	146703542	G	A	146703542	2	1	79	1	0	0	0	0	0	0	0	1	15349	933	33	2		2	STK32A	5	146703542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	808155	146703542	34211718	6692	17009											
JAKMIP2	9832	broad.mit.edu	37	chr5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcctcagctcctcttgCtgtttttcacttaataattc	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	743						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCTTGCTGTTTTTCAC	0.423																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(2227-2229)caG>caT		janus kinase and microtubule interacting protein 2							163	148	153					5																	146997591		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:146997591C>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2229G>T	5.37:g.146997591C>A	ENSP00000265272:p.Gln743His					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	p.Q743H	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2696	-			743					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.2229G>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567737	0.65651	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.7	5.61	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.65498	2.005	0.50313	D	0.999864	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;B	0.44990	0.466;0.466;0.466;0.371	T	0.06041	-1.0849	10	0.66056	D	0.02	.	8.6976	0.34305	0.0:0.5699:0.0:0.4301	.	701;743;722;743	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	722;743;701;722	ENSP00000421398:Q722H;ENSP00000265272:Q743H;ENSP00000328989:Q701H	ENSP00000265272:Q743H	Q	-	3	2	JAKMIP2	146977784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.415000	0.25817	0.563000	0.77884	CAG		0.423	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		80	408	1	0	7.2426e-40	1	8.76758e-40	80	408					A	146997591	C	A	146997591	3	1	79	1	0	0	0	0	1	0	0	0	7971	796	28	3	215	3	JAKMIP2	5	146997591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294049	146997591	33917669	6693	17010											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggacaccatcagttcatCgtttctcttggcgaggcact	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1012-1014)Gat>Aat		janus kinase and microtubule interacting protein 2							207	198	201					5																	147024484		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147024484C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1012G>A	5.37:g.147024484C>T	ENSP00000265272:p.Asp338Asn					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	p.D338N	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1479	-			338					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1012G>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436271	0.96168	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82711	-1.64;-1.64;-1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.90640	0.4574	10	0.66056	D	0.02	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	296;338;338;338	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	N	338;338;296;338	ENSP00000421398:D338N;ENSP00000265272:D338N;ENSP00000328989:D296N	ENSP00000265272:D338N	D	-	1	0	JAKMIP2	147004677	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	7.412000	0.80091	2.746000	0.94184	0.591000	0.81541	GAT		0.433	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		124	510	0	0	0	1	0	124	510					T	147024484	C	T	147024484	3	4	79	1	0	0	0	0	1	0	0	0	7971	884	31	1	1484	1	JAKMIP2	5	147024484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26893	147024484	33890776	6694	17011											
JAKMIP2	9832	broad.mit.edu	37	chr5	147030054	147030054	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtacatagcctgtctgggtCtccagttccttttccaggga	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	228						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTGGGTCTCCAGTTCCT	0.443																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(682-684)gaG>gaA		janus kinase and microtubule interacting protein 2							102	99	100					5																	147030054		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147030054C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.684G>A	5.37:g.147030054C>T						JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	p.E228E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1151	-			228					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.684G>A	CCDS4285.1																																																																																				0.443	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		64	299	0	0	0	1	0	64	299					T	147030054	C	T	147030054	2	4	79	1	0	0	0	0	0	0	0	1	7971	912	32	2		2	JAKMIP2	5	147030054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5570	147030054	33885206	6695	17012											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040937	147040937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagttctgtcaccagcacCgtgtgcttgcgctgctccag	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	67						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCACCGTGTGCTTGC	0.493																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(199-201)acG>acA		janus kinase and microtubule interacting protein 2							145	134	137					5																	147040937		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147040937C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.201G>A	5.37:g.147040937C>T						JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	p.T67T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	668	-			67					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.201G>A	CCDS4285.1																																																																																				0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		175	766	0	0	0	1	0	175	766					T	147040937	C	T	147040937	2	4	79	1	0	0	0	0	0	0	0	1	7971	639	23	1		1	JAKMIP2	5	147040937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10883	147040937	33874323	6696	17013											
SPINK5	11005	broad.mit.edu	37	chr5	147486674	147486674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagcataatcctgtccgTggcccagatggcaaaatgca	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000256084.7	+	17	1596	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000398454.1_Silent_p.R518R|SPINK5_ENST00000359874.3_Silent_p.R518R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	518	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTCCGTGGCCCAGATG	0.463																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1552-1554)cgT>cgC		serine peptidase inhibitor, Kazal type 5							159	156	157					5																	147486674		2022	4183	6205	SO:0001819	synonymous_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486674T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1554T>C	5.37:g.147486674T>C						SPINK5_ENST00000256084.7_Silent_p.R518R|SPINK5_ENST00000398454.1_Silent_p.R518R	p.R518R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1627	+			518			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	c.1554T>C	CCDS43382.1																																																																																				0.463	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		131	494	0	0	0	1	0	131	494					C	147486674	T	C	147486674	2	2	79	1	0	0	0	0	0	0	0	1	15114	1683	59	4		4	SPINK5	5	147486674	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	445737	147486674	33428586	6697	17014											
SPINK5	11005	broad.mit.edu	37	chr5	147488388	147488388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaaaaagttaagagAgaagcagttcaggtagttgt	14	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147488388A>G	ENST00000256084.7	+	18	1722	c.1680A>G	c.(1678-1680)agA>agG	p.R560R	SPINK5_ENST00000398454.1_Silent_p.R560R|SPINK5_ENST00000359874.3_Silent_p.R560R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	560					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aagttaagagagaagcagTTC	0.398																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1678-1680)agA>agG		serine peptidase inhibitor, Kazal type 5							161	168	166					5																	147488388		1857	4088	5945	SO:0001819	synonymous_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147488388A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1680A>G	5.37:g.147488388A>G						SPINK5_ENST00000256084.7_Silent_p.R560R|SPINK5_ENST00000398454.1_Silent_p.R560R	p.R560R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	1753	+			560					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	c.1680A>G	CCDS43382.1																																																																																				0.398	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		11	620	0	0	0	1	0	11	620					G	147488388	A	G	147488388	2	3	79	1	0	0	0	0	0	0	0	1	15114	301	11	4		4	SPINK5	5	147488388	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1714	147488388	33426872	6698	17015											
SPINK5	11005	broad.mit.edu	37	chr5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaaatgatcctgtgcGtggcccagatggcaagaccc	12	10	0	4	rs182767534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000256084.7	+	21	2003	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H|SPINK5_ENST00000359874.3_Missense_Mutation_p.R654H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	654	Kazal-like 10. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTGCGTGGCCCAGAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17259	0.001		0.0	False		,,,				2504	0.0					ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1960-1962)cGt>cAt		serine peptidase inhibitor, Kazal type 5							81	79	79					5																	147493998		1912	4137	6049	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147493998G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1961G>A	5.37:g.147493998G>A	ENSP00000256084:p.Arg654His					SPINK5_ENST00000256084.7_Missense_Mutation_p.R654H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H	p.R654H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	2034	+			654			Kazal-like 10.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1961G>A	CCDS43382.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102952	0.76983	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.42	4.54	0.55810	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.304457	0.26450	N	0.024303	T	0.17280	0.0415	M	0.69823	2.125	0.28078	N	0.932309	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.01001	-1.1485	10	0.59425	D	0.04	-22.2517	9.4175	0.38530	0.0952:0.0:0.9048:0.0	.	635;654;654;654	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	654;654;635;654	ENSP00000381472:R654H;ENSP00000352936:R654H;ENSP00000421519:R635H;ENSP00000256084:R654H	ENSP00000256084:R654H	R	+	2	0	SPINK5	147474191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.543000	0.36147	2.703000	0.92315	0.655000	0.94253	CGT		0.453	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		50	214	0	0	0	1	0	50	214					A	147493998	G	A	147493998	3	1	79	1	0	0	0	0	1	0	0	0	15114	1145	40	1	2043	1	SPINK5	5	147493998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5610	147493998	33421262	6699	17016											
SPINK13	153218	broad.mit.edu	37	chr5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttatatgagatcaaatggCtgcctttccccacaagatta	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2					negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408																																						ENST00000512953.1																			0				breast(2)|lung(3)	5						c.(4-6)gCt>gAt		serine peptidase inhibitor, Kazal type 13 (putative)							228	208	214					5																	147649640		1858	4095	5953	SO:0001583	missense	153218					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147649640C>A		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"Serine peptidase inhibitors, Kazal type"	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	5.37:g.147649640C>A	ENSP00000421048:p.Ala2Asp					SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D	p.A2D			Q1W4C9	ISK13_HUMAN			3	536	+			2					A1A4Y2	Missense_Mutation	SNP	ENST00000512953.1	37	c.5C>A	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT		0.408	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	NM_001040129.2		28	793	1	0	1.7881e-09	1	1.88299e-09	28	793					A	147649640	C	A	147649640	3	1	79	1	0	0	0	0	1	0	0	0	15110	797	28	3	7	3	SPINK13	5	147649640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155642	147649640	33265620	6700	17017											
FBXO38	81545	broad.mit.edu	37	chr5	147781654	147781654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagagtaaggggccatgaGgcttttagcattccaggagt	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(370-372)gaG>gaA		F-box protein 38							143	136	138					5																	147781654		2203	4299	6502	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147781654G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	5.37:g.147781654G>A						FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E	p.E124E			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	540	+			124					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.372G>A																																																																																					0.448	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		98	481	0	0	0	1	0	98	481					A	147781654	G	A	147781654	2	1	79	1	0	0	0	0	0	0	0	1	5771	991	35	2		2	FBXO38	5	147781654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132014	147781654	33133606	6701	17018											
FBXO38	81545	broad.mit.edu	37	chr5	147807242	147807242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgttctgatgaggaAcgtccttcaaccagccgagc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147807242A>G	ENST00000340253.5	+	15	2553	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	FBXO38_ENST00000394370.3_Silent_p.E795E|FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	795					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGAGGAACGTCCTTCAA	0.572																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2383-2385)gaA>gaG		F-box protein 38							54	48	50					5																	147807242		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147807242A>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2385A>G	5.37:g.147807242A>G						FBXO38_ENST00000394370.3_Silent_p.E795E|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron	p.E795E			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2553	+			795					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2385A>G																																																																																					0.572	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		6	236	0	0	0	1	0	6	236					G	147807242	A	G	147807242	2	3	79	1	0	0	0	0	0	0	0	1	5771	40	2	4		4	FBXO38	5	147807242	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25588	147807242	33108018	6702	17019											
FBXO38	81545	broad.mit.edu	37	chr5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcttccctgaagccactcGaagtgaagaagacttaaaga	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(3208-3210)cGa>cAa		F-box protein 38							43	47	46					5																	147820025		2202	4300	6502	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147820025G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3209G>A	5.37:g.147820025G>A	ENSP00000342023:p.Arg1070Gln					FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q	p.R1070Q			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3377	+			1070					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.3209G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	FBXO38	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		58	246	0	0	0	1	0	58	246					A	147820025	G	A	147820025	3	1	79	1	0	0	0	0	1	0	0	0	5771	1058	37	1	3283	1	FBXO38	5	147820025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12783	147820025	33095235	6703	17020											
HTR4	3360	broad.mit.edu	37	chr5	147845485	147845485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggagacaggggaacaGccacttttagttgaaacaga	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Silent_p.G360G|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CAGGGGAACAGCCACTTTTAG	0.428																																					GBM(120;370 1604 14007 17804 41573)	ENST00000314512.6																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1078-1080)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						143	160	154					5																	147845485		2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147845485G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1080C>T	5.37:g.147845485G>A						HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Silent_p.G360G	p.G360G	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1243	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000314512.6	37	c.1080C>T	CCDS34271.1																																																																																				0.428	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	NM_000870		141	744	0	0	0	1	0	141	744					A	147845485	G	A	147845485	2	1	79	1	0	0	0	0	0	0	0	1	7479	958	34	2		2	HTR4	5	147845485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	147845485	33069775	6704	17021											
HTR4	3360	broad.mit.edu	37	chr5	147863911	147863911	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctttgtccaataccttgCtaaaatgtctctgtcaaaca	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147863911C>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.A370T|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CAATACCTTGCTAAAATGTCT	0.393																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1108-1110)Gca>Aca		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						77	78	77					5																	147863911		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863911C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-1055G>A	5.37:g.147863911C>T						HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000520514.1_Intron	p.A370T	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1246	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1108G>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906999	0.17833	.	.	ENSG00000164270	ENST00000360693	T	0.71461	-0.57	3.94	0.0902	0.14462	.	35.803200	0.00166	N	0.000000	T	0.51958	0.1705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	9	0.15499	T	0.54	.	6.2857	0.21031	0.0:0.5463:0.0:0.4537	.	370	Q712M9	.	T	370	ENSP00000353915:A370T	ENSP00000353915:A370T	A	-	1	0	HTR4	147844104	0.002000	0.14202	0.002000	0.10522	0.095000	0.18619	-0.379000	0.07437	-0.002000	0.14469	0.650000	0.86243	GCA		0.393	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		40	172	0	0	0	1	0	40	172					T	147863911	C	T	147863911	1	4	79	0	1	0	0	0	0	0	0	0	7479	797	28	2		2	HTR4	5	147863911	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18426	147863911	33051349	6705	17022											
HTR4	3360	broad.mit.edu	37	chr5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttccccaagatggcCatcaggataaccgtcgagag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000377888.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000360693.3_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	32					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCAAGATGGCCATCAGGATAA	0.537																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(94-96)atG>atT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						143	102	116					5																	147929756		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147929756C>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.96G>T	5.37:g.147929756C>A	ENSP00000367120:p.Met32Ile					HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000377888.3_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	p.M32I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	234	-			32					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.96G>T	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131491	0.77549	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.24115	0.695	0.52099	D	0.999943	P;B;P;B;P;P;P	0.44690	0.754;0.434;0.459;0.42;0.841;0.749;0.754	B;B;B;B;B;B;B	0.40825	0.184;0.13;0.269;0.312;0.228;0.341;0.184	T	0.05146	-1.0903	10	0.28530	T	0.3	.	17.7437	0.88414	0.0:1.0:0.0:0.0	.	32;32;32;32;32;32;32	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	I	32	ENSP00000428320:M32I;ENSP00000346156:M32I;ENSP00000314906:M32I;ENSP00000430979:M32I;ENSP00000435904:M32I;ENSP00000427913:M32I;ENSP00000367120:M32I;ENSP00000353915:M32I;ENSP00000355037:M32I	ENSP00000314906:M32I	M	-	3	0	HTR4	147909949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.538000	0.85594	0.555000	0.69702	ATG		0.537	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		55	229	1	0	1.38909e-20	1	1.55765e-20	55	229					A	147929756	C	A	147929756	3	1	79	1	0	0	0	0	1	0	0	0	7479	594	21	3	1386	3	HTR4	5	147929756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	147929756	32985504	6706	17023											
SH3TC2	79628	broad.mit.edu	37	chr5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctcccggtccctgAgttgctgagccagggccagc	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000515425.1	-	12	3082	c.2981T>G	c.(2980-2982)cTc>cGc	p.L994R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	994					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTCCCTGAGTTGCTGAGC	0.582																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1621-1623)cTc>cGc		SH3 domain and tetratricopeptide repeats 2							112	116	115					5																	148406207		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406207A>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2981T>G	5.37:g.148406207A>C	ENSP00000423660:p.Leu994Arg					SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L994R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A	p.L541R			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	2510	-			994					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1622T>G	CCDS4293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.141326|3.141326	0.57044|0.57044	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049|ENST00000394358	T;T;T|T	0.80214|0.72394	-1.07;-1.35;-1.14|-0.65	5.37|5.37	5.37|5.37	0.77165|0.77165	Tetratricopeptide-like helical (1);|.	0.076781|.	0.53938|.	D|.	0.000058|.	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.45581|0.45581	1.43|1.43	0.24075|0.24075	N|N	0.995961|0.995961	D;D;D|P	0.89917|0.43633	1.0;1.0;1.0|0.813	D;D;D|B	0.80764|0.38264	0.994;0.994;0.994|0.269	T|T	0.64659|0.64659	-0.6355|-0.6355	10|9	0.87932|0.87932	D|D	0|0	-9.2116|-9.2116	15.5409|15.5409	0.76048|0.76048	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	987;994;994|915	Q14CC0;E9PDF1;Q8TF17|C9JLC3	.;.;S3TC2_HUMAN|.	R|A	541;994;987|915	ENSP00000441427:L541R;ENSP00000423660:L994R;ENSP00000421860:L987R|ENSP00000377886:S915A	ENSP00000425627:L994R|ENSP00000377886:S915A	L|S	-|-	2|1	0|0	SH3TC2|SH3TC2	148386400|148386400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.054000|7.054000	0.76649|0.76649	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	CTC|TCA		0.582	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		161	636	0	0	0	1	0	161	636					C	148406207	A	C	148406207	3	2	79	1	0	0	0	0	1	0	0	0	14312	304	11	4	909	4	SH3TC2	5	148406207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476451	148406207	32509053	6707	17024											
SH3TC2	79628	broad.mit.edu	37	chr5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctacagacacttggatctCtgtatcctccaccaatatgc	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000515425.1	-	5	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000538184.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	155					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATCTCTGTATCCTCC	0.448																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(463-465)Gag>Aag		SH3 domain and tetratricopeptide repeats 2							176	162	167					5																	148422323		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148422323C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.463G>A	5.37:g.148422323C>T	ENSP00000423660:p.Glu155Lys					SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K	p.E155K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	564	-			155					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.463G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325966	0.24080	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.76968	-1.06;-1.05;-0.72	5.12	3.19	0.36642	.	0.227351	0.36338	N	0.002644	T	0.63873	0.2548	L	0.31926	0.97	0.38647	D	0.951752	B;B;B	0.34255	0.355;0.445;0.445	B;B;B	0.28638	0.092;0.077;0.077	T	0.65319	-0.6197	10	0.33141	T	0.24	.	12.0414	0.53454	0.0:0.8348:0.0:0.1652	.	40;148;155	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	155;148;40	ENSP00000423660:E155K;ENSP00000421860:E148K;ENSP00000377886:E40K	ENSP00000313025:E155K	E	-	1	0	SH3TC2	148402516	0.930000	0.31532	0.955000	0.39395	0.270000	0.26580	1.869000	0.39519	1.380000	0.46344	0.655000	0.94253	GAG		0.448	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		43	440	0	0	0	1	0	43	440					T	148422323	C	T	148422323	3	4	79	1	0	0	0	0	1	0	0	0	14312	922	32	2	3455	2	SH3TC2	5	148422323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16116	148422323	32492937	6708	17025											
ABLIM3	22885	broad.mit.edu	37	chr5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgagaacctggacctcCggcagagacgggcctccagc	12	15	1	2	rs150488528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1099-1101)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	70	76	74		1099	5	1	5	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	101	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	probably-damaging	367/684	148619346	5,13001	2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619346C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1099C>T	5.37:g.148619346C>T	ENSP00000425394:p.Arg367Trp					ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA	p.R367W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1581	+			367					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1099C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	ABLIM3	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		110	533	0	0	0	1	0	110	533					T	148619346	C	T	148619346	3	4	79	1	0	0	0	0	1	0	0	0	96	643	23	1	1145	1	ABLIM3	5	148619346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197023	148619346	32295914	6709	17026											
ABLIM3	22885	broad.mit.edu	37	chr5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaattggccggctgaTtctgaaggaagaaatgaagg	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	526					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1576-1578)aTt>aGt		actin binding LIM protein family, member 3							45	48	47					5																	148627370		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627370T>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1577T>G	5.37:g.148627370T>G	ENSP00000425394:p.Ile526Ser					ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000522685.1_RNA	p.I526S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2059	+			526					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1577T>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352173	0.82132	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.987;0.982	D;D;D;P	0.83275	0.996;0.976;0.974;0.758	T	0.59263	-0.7487	10	0.87932	D	0	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	12;431;415;526	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	431;415;526;526;415;493;12;11	ENSP00000315841:I431S;ENSP00000348938:I415S;ENSP00000310309:I526S;ENSP00000425394:I526S;ENSP00000421183:I415S;ENSP00000420855:I493S;ENSP00000430150:I12S	ENSP00000310309:I526S	I	+	2	0	ABLIM3	148607563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.130000	0.77235	2.142000	0.66516	0.459000	0.35465	ATT		0.577	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		25	237	0	0	0	1	0	25	237					G	148627370	T	G	148627370	3	3	79	1	0	0	0	0	1	0	0	0	96	1493	52	4	1643	4	ABLIM3	5	148627370	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8024	148627370	32287890	6710	17027											
ABLIM3	22885	broad.mit.edu	37	chr5	148637959	148637959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagaagcaagcccggCtgttctaggcagaggctcta	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ABLIM3_ENST00000326685.7_Silent_p.L587L|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000517451.1_Silent_p.L168L|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	682	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2044-2046)Ctg>Ttg		actin binding LIM protein family, member 3							46	46	46					5																	148637959		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637959C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2044C>T	5.37:g.148637959C>T						ABLIM3_ENST00000326685.7_Silent_p.L587L|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Silent_p.L168L|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA	p.L682L			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2526	+			682			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.2044C>T	CCDS4294.1																																																																																				0.438	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		56	213	0	0	0	1	0	56	213					T	148637959	C	T	148637959	2	4	79	1	0	0	0	0	0	0	0	1	96	796	28	2		2	ABLIM3	5	148637959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10589	148637959	32277301	6711	17028											
AFAP1L1	134265	broad.mit.edu	37	chr5	148679100	148679100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctcccagagctcacCgggctgctcagcctcctgga	11	17	2	1	rs199577925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	15						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACCGGGCTGCTCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17790	0.0		0.001	False		,,,				2504	0.0					ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(43-45)acC>acT		actin filament associated protein 1-like 1		C	,	1,4405	2.1+/-5.4	0,1,2202	59	56	57		45,45	-9.3	0	5	dbSNP_132	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFAP1L1	NM_001146337.1,NM_152406.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	15/726,15/769	148679100	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148679100C>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.45C>T	5.37:g.148679100C>T						AFAP1L1_ENST00000515000.1_Silent_p.T15T|AFAP1L1_ENST00000522492.1_3'UTR	p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	143	+			15					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.45C>T	CCDS34274.1																																																																																				0.652	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		42	281	0	0	0	1	0	42	281					T	148679100	C	T	148679100	2	4	79	1	0	0	0	0	0	0	0	1	354	639	23	1		1	AFAP1L1	5	148679100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41141	148679100	32236160	6712	17029											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687146	148687146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggcagtgggccaagcaGctgacggtcatcagggagga	17	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	239	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAAGCAGCTGACGGTCA	0.592																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(715-717)caG>caA		actin filament associated protein 1-like 1							61	49	53					5																	148687146		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148687146G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.717G>A	5.37:g.148687146G>A						AFAP1L1_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	815	+			239			PH 1.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.717G>A	CCDS34274.1																																																																																				0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		46	170	0	0	0	1	0	46	170					A	148687146	G	A	148687146	2	1	79	1	0	0	0	0	0	0	0	1	354	962	34	2		2	AFAP1L1	5	148687146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8046	148687146	32228114	6713	17030											
PCYOX1L	78991	broad.mit.edu	37	chr5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagggaaccgtgggtggcCgcttggccaccatctcagtc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612																																					Ovarian(62;1136 1477 27277 27495)	ENST00000274569.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(196-198)Cgc>Tgc		prenylcysteine oxidase 1 like							103	107	106					5																	148742307		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148742307C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.196C>T	5.37:g.148742307C>T	ENSP00000274569:p.Arg66Cys					PCYOX1L_ENST00000514349.1_5'UTR	p.R66C	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	258	+			66					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.196C>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884128	0.51908	.	.	ENSG00000145882	ENST00000274569	T	0.15834	2.39	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48019	-0.9071	10	0.87932	D	0	-20.8276	19.1631	0.93543	0.0:1.0:0.0:0.0	.	66	Q8NBM8	PCYXL_HUMAN	C	66	ENSP00000274569:R66C	ENSP00000274569:R66C	R	+	1	0	PCYOX1L	148722500	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.877000	0.69675	2.596000	0.87737	0.561000	0.74099	CGC		0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		63	702	0	0	0	1	0	63	702					T	148742307	C	T	148742307	3	4	79	1	0	0	0	0	1	0	0	0	11651	652	23	1	202	1	PCYOX1L	5	148742307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55161	148742307	32172953	6714	17031											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaatgaggtaggcaacaGctctgacttctatgacatcg	11	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000274569.4	+	6	934	c.872G>T	c.(871-873)aGc>aTc	p.S291I	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.S201I	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	291					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(601-603)aGc>aTc		prenylcysteine oxidase 1 like							141	134	136					5																	148747604		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747604G>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.872G>T	5.37:g.148747604G>T	ENSP00000274569:p.Ser291Ile		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.S291I	p.S201I			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1181	+			291					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.602G>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151505	0.21371	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15256	2.9;2.44	5.53	4.47	0.54385	Prenylcysteine lyase (1);	0.425451	0.27354	N	0.019756	T	0.11965	0.0291	N	0.08118	0	0.28518	N	0.913217	B;B;P	0.37594	0.033;0.364;0.601	B;B;B	0.41571	0.066;0.36;0.178	T	0.11641	-1.0579	10	0.37606	T	0.19	-20.1905	15.2515	0.73549	0.0788:0.0:0.9212:0.0	.	173;201;291	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	I	291;201	ENSP00000274569:S291I;ENSP00000428512:S201I	ENSP00000274569:S291I	S	+	2	0	PCYOX1L	148727797	0.981000	0.34729	0.910000	0.35882	0.327000	0.28475	2.055000	0.41345	2.590000	0.87494	0.561000	0.74099	AGC		0.527	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		29	748	1	0	7.26314e-15	1	7.90818e-15	29	748					T	148747604	G	T	148747604	3	4	79	1	0	0	0	0	1	0	0	0	11651	971	34	3	894	3	PCYOX1L	5	148747604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5297	148747604	32167656	6715	17032											
ARHGEF37	389337	broad.mit.edu	37	chr5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtccctgatgccagtgCctatcctgtccttcagaggg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	192	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(574-576)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 37							110	105	107					5																	148996246		1972	4162	6134	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148996246C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.575C>T	5.37:g.148996246C>T	ENSP00000328083:p.Ala192Val						p.A192V	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			5	738	+			192			DH.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.575C>T	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698084	0.68386	.	.	ENSG00000183111	ENST00000333677	T	0.30448	1.53	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.056528	0.64402	D	0.000001	T	0.49372	0.1553	L	0.43923	1.385	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.49762	-0.8905	10	0.87932	D	0	-5.8857	19.0356	0.92976	0.0:1.0:0.0:0.0	.	192	A1IGU5	ARH37_HUMAN	V	192	ENSP00000328083:A192V	ENSP00000328083:A192V	A	+	2	0	ARHGEF37	148976439	1.000000	0.71417	0.993000	0.49108	0.143000	0.21401	3.540000	0.53611	2.584000	0.87258	0.467000	0.42956	GCC		0.522	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		53	287	0	0	0	1	0	53	287					T	148996246	C	T	148996246	3	4	79	1	0	0	0	0	1	0	0	0	906	739	26	2	589	2	ARHGEF37	5	148996246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248642	148996246	31919014	6716	17033											
ARHGEF37	389337	broad.mit.edu	37	chr5	148998539	148998539	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgatttagaagagaggttCcagtgggtgtctctgtgtgt	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	276	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(826-828)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 37							273	281	278					5																	148998539		2016	4186	6202	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148998539C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.828C>T	5.37:g.148998539C>T			OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1721		p.F276F	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			7	991	+			276			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.828C>T	CCDS43385.1																																																																																				0.493	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		316	1245	0	0	0	1	0	316	1245					T	148998539	C	T	148998539	2	4	79	1	0	0	0	0	0	0	0	1	906	854	30	2		2	ARHGEF37	5	148998539	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	148998539	31916721	6717	17034											
ARHGEF37	389337	broad.mit.edu	37	chr5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctacttcaggccgcacGaatacaatctggacatcccc	6	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(919-921)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 37							128	127	127					5																	148999941		1931	4133	6064	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148999941G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.919G>A	5.37:g.148999941G>A	ENSP00000328083:p.Glu307Lys						p.E307K	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			8	1082	+			307			BAR.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.919G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194412	0.22037	.	.	ENSG00000183111	ENST00000333677	T	0.58797	0.31	6.07	5.19	0.71726	BAR (2);	0.508022	0.22973	N	0.053418	T	0.54902	0.1887	M	0.75447	2.3	0.19300	N	0.999974	P	0.47962	0.903	B	0.43838	0.433	T	0.50457	-0.8826	10	0.11182	T	0.66	-0.0621	8.7577	0.34656	0.0787:0.1527:0.7685:0.0	.	307	A1IGU5	ARH37_HUMAN	K	307	ENSP00000328083:E307K	ENSP00000328083:E307K	E	+	1	0	ARHGEF37	148980134	0.815000	0.29118	0.153000	0.22517	0.012000	0.07955	2.143000	0.42187	1.553000	0.49476	0.650000	0.86243	GAA		0.512	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		17	579	0	0	0	1	0	17	579					A	148999941	G	A	148999941	3	1	79	1	0	0	0	0	1	0	0	0	906	1059	37	1	945	1	ARHGEF37	5	148999941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1402	148999941	31915319	6718	17035											
ARHGEF37	389337	broad.mit.edu	37	chr5	149006811	149006811	+	Missense_Mutation	SNP	G	G	A													ggacaccaaaggcaacagcgGccgctggctggtggacaccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	ENST00000333677.6	+	11	1800	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTG	0.612																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1636-1638)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 37							64	76	72					5																	149006811		2049	4172	6221	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006811G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1637G>A	5.37:g.149006811G>A	ENSP00000328083:p.Gly546Asp						p.G546D	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			11	1800	+			546			SH3 1.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1637G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	7.143	0.582229	0.13749	.	.	ENSG00000183111	ENST00000333677	T	0.09073	3.02	5.11	2.38	0.29361	Src homology-3 domain (2);Variant SH3 (1);	0.568279	0.20454	N	0.092025	T	0.05593	0.0147	N	0.21448	0.665	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.37572	-0.9700	10	0.31617	T	0.26	.	7.7404	0.28837	0.3962:0.0:0.6038:0.0	.	546	A1IGU5	ARH37_HUMAN	D	546	ENSP00000328083:G546D	ENSP00000328083:G546D	G	+	2	0	ARHGEF37	148987004	0.037000	0.19845	0.505000	0.27651	0.702000	0.40608	1.513000	0.35823	0.573000	0.29400	-0.221000	0.12465	GGC		0.612	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		99	492	0	0	0	1	0	99	492					A	149006811	G	A	149006811	3	1	79	1	0	0	0	0	1	0	0	0	906	1203	42	2	1675	2	ARHGEF37	5	149006811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6870	149006811	31908449	6719	17036	101	2									
ARHGEF37	389337	broad.mit.edu	37	chr5	149006812	149006812	+	Silent	SNP	C	C	A													gacaccaaaggcaacagcggCcgctggctggtggacaccgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006812C>A	ENST00000333677.6	+	11	1801	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAACAGCGGCCGCTGGCTGG	0.607																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1636-1638)ggC>ggA		Rho guanine nucleotide exchange factor (GEF) 37							63	75	71					5																	149006812		2048	4171	6219	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006812C>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1638C>A	5.37:g.149006812C>A							p.G546G	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			11	1801	+			546			SH3 1.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.1638C>A	CCDS43385.1																																																																																				0.607	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		15	574	1	0	1.05317e-09	1	1.11087e-09	15	574					A	149006812	C	A	149006812	2	1	79	1	0	0	0	0	0	0	0	1	906	726	26	3		3	ARHGEF37	5	149006812	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	149006812	31908448	6720	17037	101	2									
PPARGC1B	133522	broad.mit.edu	37	chr5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagaaggaagggaccGcctggcgccaggcaggcctc	14	15	0	1	rs189353551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20659	0.001		0.0	False		,,,				2504	0.0					ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(532-534)Gcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							99	104	102					5																	149210396		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149210396G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>A	5.37:g.149210396G>A	ENSP00000312649:p.Ala178Thr					PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T	p.A178T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	564	+			178					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.532G>A	CCDS4298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.74	1.728445	0.30593	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.08896	3.04;3.05	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.02533	0.0077	N	0.20685	0.6	0.36951	D	0.892856	B;B;B;B	0.16396	0.003;0.007;0.002;0.017	B;B;B;B	0.09377	0.002;0.004;0.001;0.004	T	0.45833	-0.9234	10	0.02654	T	1	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	T	178	ENSP00000377855:A178T;ENSP00000312649:A178T	ENSP00000312649:A178T	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		130	601	0	0	0	1	0	130	601					A	149210396	G	A	149210396	3	1	79	1	0	0	0	0	1	0	0	0	12343	1087	38	1	553	1	PPARGC1B	5	149210396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203584	149210396	31704864	6721	17038											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212986	149212986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaggaggaggaggaGtggggcaggaaaaggccagg	21	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149212986G>A	ENST00000309241.5	+	5	1382	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E|PPARGC1B_ENST00000394320.3_Silent_p.E450E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	450	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaggagTGGGGCAGGA	0.622																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1348-1350)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							42	45	44					5																	149212986		2185	4290	6475	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212986G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1350G>A	5.37:g.149212986G>A						PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E|PPARGC1B_ENST00000394320.3_Silent_p.E450E	p.E450E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1382	+			450			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.1350G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662079	0.14645	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.38	2.66	0.31614	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-15.9151	8.4931	0.33112	0.3021:0.0:0.6979:0.0	.	.	.	.	M	137	.	.	V	+	1	0	PPARGC1B	149193179	0.978000	0.34361	1.000000	0.80357	0.978000	0.69477	-0.082000	0.11304	0.264000	0.21851	0.462000	0.41574	GTG		0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		13	54	0	0	0	1	0	13	54					A	149212986	G	A	149212986	2	1	79	1	0	0	0	0	0	0	0	1	12343	1020	36	2		2	PPARGC1B	5	149212986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2590	149212986	31702274	6722	17039											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaggctggccagaagcGtcccttctcctgttcctttg	9	16	1	1	rs369256348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2047-2049)cGt>cAt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50	54	53		1931,1856,2048	4.5	1	5		53	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	644/985,619/960,683/1024	149216066	1,13003	2203	4299	6502	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216066G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2048G>A	5.37:g.149216066G>A	ENSP00000312649:p.Arg683His					PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H	p.R683H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2080	+			683					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2048G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443480	0.43429	0.0	1.16E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.21361	2.03;2.01;2.05;2.02	4.47	4.47	0.54385	.	0.193702	0.33161	N	0.005210	T	0.22820	0.0551	L	0.58101	1.795	0.37255	D	0.906726	P;B;P;B;P	0.39737	0.685;0.212;0.685;0.414;0.685	B;B;B;B;B	0.32724	0.14;0.042;0.14;0.066;0.151	T	0.36480	-0.9746	10	0.87932	D	0	-17.9009	17.5766	0.87952	0.0:0.0:1.0:0.0	.	662;662;644;683;683	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	644;683;683;619	ENSP00000353638:R644H;ENSP00000377855:R683H;ENSP00000312649:R683H;ENSP00000384403:R619H	ENSP00000312649:R683H	R	+	2	0	PPARGC1B	149196259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.689000	0.74562	2.212000	0.71576	0.456000	0.33151	CGT		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		78	418	0	0	0	1	0	78	418					A	149216066	G	A	149216066	3	1	79	1	0	0	0	0	1	0	0	0	12343	1145	40	1	2085	1	PPARGC1B	5	149216066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3080	149216066	31699194	6723	17040											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216334	149216334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacactttgggctgctggaGaccgccctggaggaggaaga	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E|PPARGC1B_ENST00000394320.3_Silent_p.E772E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	772	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2314-2316)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							106	111	109					5																	149216334		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216334G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2316G>A	5.37:g.149216334G>A						PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E|PPARGC1B_ENST00000394320.3_Silent_p.E772E	p.E772E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2348	+			772			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2316G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216807	0.09810	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-1.35	0.09114	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.29451	N	0.858469	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	-10.0845	0.4038	0.00430	0.251:0.2731:0.2459:0.23	.	.	.	.	N	459	.	.	D	+	1	0	PPARGC1B	149196527	0.894000	0.30519	0.255000	0.24374	0.993000	0.82548	0.833000	0.27504	-0.040000	0.13580	0.462000	0.41574	GAC		0.602	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		163	804	0	0	0	1	0	163	804					A	149216334	G	A	149216334	2	1	79	1	0	0	0	0	0	0	0	1	12343	933	33	2		2	PPARGC1B	5	149216334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	149216334	31698926	6724	17041											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		9	538						9	538	---	---	---	---	-	149216459	GGA	-	149216457	7	5	79	1	0	1	0	1	0	0	0	0	12343	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-IB-7651-01A-11D-2154-08	123	149216457	31698803	6725	17042											
PDE6A	5145	broad.mit.edu	37	chr5	149310693	149310693	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcgttcgatgtccgtAagttcttcaaagactttgct	8	9	2	1	rs552900459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	252					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CGATGTCCGTAAGTTCTTCAA	0.443																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(754-756)ctT>ctG		phosphodiesterase 6A, cGMP-specific, rod, alpha							146	118	128					5																	149310693		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149310693A>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.756T>G	5.37:g.149310693A>C							p.L252L	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	875	-			252					Q0P638	Silent	SNP	ENST00000255266.5	37	c.756T>G	CCDS4299.1																																																																																				0.443	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			56	306	0	0	0	1	0	56	306					C	149310693	A	C	149310693	2	2	79	1	0	0	0	0	0	0	0	1	11687	349	13	4		4	PDE6A	5	149310693	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94236	149310693	31604567	6726	17043											
TIGD6	81789	broad.mit.edu	37	chr5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaaaggaactgtctaAgtttctgtacacttgatatg	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	476						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACTGTCTAAGTTTCTGTAC	0.388																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(1426-1428)cTt>cGt		tigger transposable element derived 6							100	91	94					5																	149374485		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149374485A>C	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1427T>G	5.37:g.149374485A>C	ENSP00000296736:p.Leu476Arg					TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	2201	-			476					B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.1427T>G	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364116	0.41902	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.20463	2.07;2.07	4.51	0.74	0.18330	.	0.563343	0.13339	U	0.395337	T	0.22475	0.0542	N	0.24115	0.695	0.22858	N	0.998648	D	0.58620	0.983	P	0.56474	0.799	T	0.12400	-1.0549	10	0.87932	D	0	.	7.6011	0.28077	0.7318:0.0:0.2682:0.0	.	476	Q17RP2	TIGD6_HUMAN	R	476	ENSP00000296736:L476R;ENSP00000425318:L476R	ENSP00000296736:L476R	L	-	2	0	TIGD6	149354678	0.995000	0.38212	0.973000	0.42090	0.828000	0.46876	1.501000	0.35693	0.041000	0.15688	-0.264000	0.10439	CTT		0.388	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		62	296	0	0	0	1	0	62	296					C	149374485	A	C	149374485	3	2	79	1	0	0	0	0	1	0	0	0	15952	72	3	4	142	4	TIGD6	5	149374485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63792	149374485	31540775	6727	17044											
CSF1R	1436	broad.mit.edu	37	chr5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccctcggggtcctggcCggggctcaggctgggtccca	16	16	1	0	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2068-2070)Ggc>Agc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	63	67	66		2068	3.9	0.2	5	dbSNP_134	66	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	690/973	149439327	2,13004	2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149439327C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2068G>A	5.37:g.149439327C>T	ENSP00000286301:p.Gly690Ser						p.G690S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2359	-			690			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2068G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999846	0.35320	4.54E-4	0.0	ENSG00000182578	ENST00000286301	T	0.77098	-1.07	4.79	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588531	0.15014	N	0.285361	T	0.61274	0.2334	L	0.33339	1.005	0.21782	N	0.999544	D	0.54601	0.967	B	0.37888	0.26	T	0.53865	-0.8378	10	0.35671	T	0.21	.	6.1275	0.20187	0.1519:0.6892:0.0:0.1589	.	690	P07333	CSF1R_HUMAN	S	690	ENSP00000286301:G690S	ENSP00000286301:G690S	G	-	1	0	CSF1R	149419520	0.000000	0.05858	0.158000	0.22627	0.047000	0.14425	0.720000	0.25896	1.336000	0.45506	0.561000	0.74099	GGC		0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		86	411	0	0	0	1	0	86	411					T	149439327	C	T	149439327	3	4	79	1	0	0	0	0	1	0	0	0	3943	652	23	1	882	1	CSF1R	5	149439327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64842	149439327	31475933	6728	17045											
PDGFRB	5159	broad.mit.edu	37	chr5	149495413	149495413	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctggctccggctccacctgGagctcaagctggggctctgg	14	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149495413G>T	ENST00000261799.4	-	23	3703	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1078					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCTGGAGCTCAAGCT	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3232-3234)ctC>ctA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						29	31	30					5																	149495413		2203	4298	6501	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149495413G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3234C>A	5.37:g.149495413G>T							p.L1078L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	3703	-		all_hematologic(541;0.224)	1078					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3234C>A	CCDS4303.1																																																																																				0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		6	115	1	0	0.0215528	1	0.0216335	6	115					T	149495413	G	T	149495413	2	4	79	1	0	0	0	0	0	0	0	1	11704	1161	41	3		3	PDGFRB	5	149495413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56086	149495413	31419847	6729	17046											
PDGFRB	5159	broad.mit.edu	37	chr5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagatcttgaccagcttgcCttcacagatgagcacgttcc	8	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2509-2511)Ggc>Tgc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						158	134	142					5																	149500528		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500528C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2509G>T	5.37:g.149500528C>A	ENSP00000261799:p.Gly837Cys						p.G837C	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2978	-		all_hematologic(541;0.224)	837			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2509G>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348081	0.95807	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.274240	0.25025	N	0.033728	D	0.93963	0.8067	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	837;837	A8KAM8;P09619	.;PGFRB_HUMAN	C	837;507	ENSP00000261799:G837C	ENSP00000261799:G837C	G	-	1	0	PDGFRB	149480721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.086000	0.71352	2.504000	0.84457	0.655000	0.94253	GGC		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		74	299	1	0	1.32218e-49	1	1.6358e-49	74	299					A	149500528	C	A	149500528	3	1	79	1	0	0	0	0	1	0	0	0	11704	681	24	3	835	3	PDGFRB	5	149500528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	149500528	31414732	6730	17047											
PDGFRB	5159	broad.mit.edu	37	chr5	149512485	149512485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtgcccacctctcccaGgagccgcacgtagccgctct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	ENST00000261799.4	-	7	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	319					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTCTCCCAGGAGCCGCACG	0.647			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(955-957)Ctg>Ttg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						28	23	25					5																	149512485		2198	4292	6490	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149512485G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.955C>T	5.37:g.149512485G>A							p.L319L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1424	-		all_hematologic(541;0.224)	319					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.955C>T	CCDS4303.1																																																																																				0.647	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		8	32	0	0	0	1	0	8	32					A	149512485	G	A	149512485	2	1	79	1	0	0	0	0	0	0	0	1	11704	991	35	2		2	PDGFRB	5	149512485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11957	149512485	31402775	6731	17048											
ARSI	340075	broad.mit.edu	37	chr5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtgatgttgcgcacaGcctcatccatgcaggtcacc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(817-819)gCt>gAt		arylsulfatase family, member I							43	37	39					5																	149677669		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677669G>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.818C>A	5.37:g.149677669G>T	ENSP00000333395:p.Ala273Asp						p.A273D	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1397	-			273					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.818C>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432615	0.83776	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96913	-4.17;-4.17	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.78049	2.395	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	D	0.98335	1.0535	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	D	273;130	ENSP00000333395:A273D;ENSP00000426879:A130D	ENSP00000333395:A273D	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT		0.597	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		42	175	1	0	2.26627e-22	1	2.56399e-22	42	175					T	149677669	G	T	149677669	3	4	79	1	0	0	0	0	1	0	0	0	995	971	34	3	895	3	ARSI	5	149677669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165184	149677669	31237591	6732	17049											
TCOF1	6949	broad.mit.edu	37	chr5	149771736	149771736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagtcagcccacacgCtgggtgagggtgccagggga	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149771736C>T	ENST00000504761.2	+	21	3514	c.3514C>T	c.(3514-3516)Ctg>Ttg	p.L1172L	TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000451292.1_Silent_p.L1209L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1172					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCACACGCTGGGTGAGGG	0.612																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3625-3627)Ctg>Ttg		Treacher Collins-Franceschetti syndrome 1							33	35	35					5																	149771736		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149771736C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3514C>T	5.37:g.149771736C>T						TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000504761.2_Silent_p.L1172L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000439160.2_Silent_p.L1134L	p.L1209L			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3733	+		all_hematologic(541;0.224)	1172					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.3625C>T	CCDS54936.1																																																																																				0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		6	264	0	0	0	1	0	6	264					T	149771736	C	T	149771736	2	4	79	1	0	0	0	0	0	0	0	1	15760	796	28	2		2	TCOF1	5	149771736	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94067	149771736	31143524	6733	17050											
CD74	972	broad.mit.edu	37	chr5	149786471	149786471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggctcccatgggcagCgcctgcatcagcagcggggt	17	13	1	0	rs548437679	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000009530.7	-	3	352	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000353334.6_Silent_p.A117A			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	117	CLIP.				activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682			T	ROS1	NSCLC								C|||	3	0.000599042	0.0	0.0	5008	,	,		18593	0.0		0.0	False		,,,				2504	0.0031					ENST00000353334.6				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(349-351)gcG>gcA		CD74 molecule, major histocompatibility complex, class II invariant chain							21	24	23					5																	149786471		2203	4298	6501	SO:0001819	synonymous_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149786471C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.351G>A	5.37:g.149786471C>T						CD74_ENST00000009530.7_Silent_p.A117A|CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A	p.A117A	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	530	-		all_hematologic(541;0.224)	117			CLIP.		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	37	c.351G>A	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022268	0.08006	.	.	ENSG00000019582	ENST00000518797	T	0.61627	0.09	4.51	-7.42	0.01388	.	0.989663	0.08250	N	0.974778	T	0.25901	0.0631	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.17369	T	0.5	-1.7585	0.562	0.00680	0.212:0.1953:0.2097:0.383	.	.	.	.	T	112	ENSP00000430614:A112T	ENSP00000430614:A112T	A	-	1	0	CD74	149766664	0.000000	0.05858	0.009000	0.14445	0.490000	0.33462	-3.837000	0.00354	-1.756000	0.01318	-0.215000	0.12644	GCT		0.682	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		15	54	0	0	0	1	0	15	54					T	149786471	C	T	149786471	2	4	79	1	0	0	0	0	0	0	0	1	3044	755	27	1		1	CD74	5	149786471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14735	149786471	31128789	6734	17051											
NDST1	3340	broad.mit.edu	37	chr5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaggtgattaccgccGgctctgacgcatcctcgaag	11	13	1	3	rs371359917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000261797.6	+	12	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	737	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2209-2211)Ggc>Agc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		G	SER/GLY	0,4406		0,0,2203	90	62	71		2209	4	0	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDST1	NM_001543.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	737/883	149927843	1,13005	2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149927843G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2209G>A	5.37:g.149927843G>A	ENSP00000261797:p.Gly737Ser					NDST1_ENST00000523767.1_Intron	p.G737S	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2711	+		all_hematologic(541;0.224)	737			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2209G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500001	0.12762	0.0	1.16E-4	ENSG00000070614	ENST00000261797	T	0.56103	0.48	4.91	4.04	0.47022	Sulfotransferase domain (1);	0.308220	0.39615	N	0.001304	T	0.29389	0.0732	N	0.16016	0.355	0.58432	D	0.999998	B	0.27264	0.173	B	0.18561	0.022	T	0.16778	-1.0391	10	0.02654	T	1	.	13.2775	0.60196	0.0763:0.0:0.9237:0.0	.	737	P52848	NDST1_HUMAN	S	737	ENSP00000261797:G737S	ENSP00000261797:G737S	G	+	1	0	NDST1	149908036	1.000000	0.71417	0.018000	0.16275	0.041000	0.13682	4.852000	0.62904	1.203000	0.43233	0.655000	0.94253	GGC		0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		51	254	0	0	0	1	0	51	254					A	149927843	G	A	149927843	3	1	79	1	0	0	0	0	1	0	0	0	10297	1116	39	1	2251	1	NDST1	5	149927843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141372	149927843	30987417	6735	17052											
NDST1	3340	broad.mit.edu	37	chr5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggatggcaaactgcttCgcacagaacctgccaaagtg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000261797.6	+	13	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	782	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2344-2346)Cgc>Tgc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							117	97	104					5																	149929267		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149929267C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2344C>T	5.37:g.149929267C>T	ENSP00000261797:p.Arg782Cys					NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	p.R782C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2846	+		all_hematologic(541;0.224)	782			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2344C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007009	0.74932	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.82893	0.5;-1.66	5.01	3.17	0.36434	Sulfotransferase domain (1);	0.056562	0.64402	D	0.000001	D	0.89784	0.6815	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	D	0.90059	0.4155	10	0.72032	D	0.01	.	14.0209	0.64555	0.2763:0.7237:0.0:0.0	.	725;782	E7EVJ3;P52848	.;NDST1_HUMAN	C	725;782	ENSP00000428604:R725C;ENSP00000261797:R782C	ENSP00000261797:R782C	R	+	1	0	NDST1	149909460	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	1.493000	0.35605	0.583000	0.29574	0.591000	0.81541	CGC		0.532	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		34	124	0	0	0	1	0	34	124					T	149929267	C	T	149929267	3	4	79	1	0	0	0	0	1	0	0	0	10297	884	31	1	2390	1	NDST1	5	149929267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	149929267	30985993	6736	17053											
SYNPO	11346	broad.mit.edu	37	chr5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcaccccagtccccagaGccccgacagaggggtccctg	12	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	235					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(703-705)aGc>aAc		synaptopodin							23	30	28					5																	150027809		2202	4300	6502	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027809G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.704G>A	5.37:g.150027809G>A	ENSP00000377789:p.Ser235Asn					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	p.S235N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1078	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	235					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.704G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202039	0.22121	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	2.19	0.27852	.	0.000000	0.48767	D	0.000172	T	0.15392	0.0371	L	0.29908	0.895	0.40926	D	0.984353	B	0.18166	0.026	B	0.19391	0.025	T	0.09640	-1.0665	10	0.17369	T	0.5	-11.3873	7.7797	0.29058	0.1734:0.1482:0.6784:0.0	.	235	Q8N3V7	SYNPO_HUMAN	N	235	ENSP00000377789:S235N;ENSP00000428378:S235N	ENSP00000377789:S235N	S	+	2	0	SYNPO	150008002	0.000000	0.05858	0.979000	0.43373	0.720000	0.41350	-0.198000	0.09505	0.587000	0.29643	0.561000	0.74099	AGC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		28	106	0	0	0	1	0	28	106					A	150027809	G	A	150027809	3	1	79	1	0	0	0	0	1	0	0	0	15508	971	34	2	710	2	SYNPO	5	150027809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98542	150027809	30887451	6737	17054											
SYNPO	11346	broad.mit.edu	37	chr5	150027836	150027836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggtccctggccacaGcatggaggggtactcagagg	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027836G>T	ENST00000394243.1	+	3	1105	c.731G>T	c.(730-732)aGc>aTc	p.S244I	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	244					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGCCACAGCATGGAGGGG	0.637																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(730-732)aGc>aTc		synaptopodin							41	48	46					5																	150027836		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027836G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.731G>T	5.37:g.150027836G>T	ENSP00000377789:p.Ser244Ile					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	p.S244I	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1105	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	244					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.731G>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105396	0.37145	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.25085	1.82;1.82	5.28	3.41	0.39046	.	0.143250	0.32785	N	0.005657	T	0.13114	0.0318	N	0.17082	0.46	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.2011	5.4992	0.16819	0.1582:0.0:0.6693:0.1725	.	244	Q8N3V7	SYNPO_HUMAN	I	244	ENSP00000377789:S244I;ENSP00000428378:S244I	ENSP00000377789:S244I	S	+	2	0	SYNPO	150008029	0.047000	0.20315	0.998000	0.56505	0.957000	0.61999	2.160000	0.42348	1.164000	0.42652	0.561000	0.74099	AGC		0.637	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		7	204	1	0	0.00198382	1	0.00200138	7	204					T	150027836	G	T	150027836	3	4	79	1	0	0	0	0	1	0	0	0	15508	971	34	3	737	3	SYNPO	5	150027836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	150027836	30887424	6738	17055											
SYNPO	11346	broad.mit.edu	37	chr5	150028766	150028766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccggcctcagagagacGccccttggggaacttcactg	12	14	2	2	rs35729008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150028766G>A	ENST00000394243.1	+	3	2035	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	554					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGAGACGCCCCTTGGGG	0.617																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1660-1662)cGc>cAc		synaptopodin							47	55	52					5																	150028766		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028766G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1661G>A	5.37:g.150028766G>A	ENSP00000377789:p.Arg554His					SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H	p.R554H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2035	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	554					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.1661G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053652	0.36277	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26810	1.73;1.73;1.71	5.18	4.31	0.51392	.	0.116138	0.39407	N	0.001380	T	0.33352	0.0860	L	0.32530	0.975	0.32458	N	0.544542	B;D	0.76494	0.004;0.999	B;D	0.65233	0.004;0.933	T	0.40040	-0.9584	10	0.44086	T	0.13	-10.0133	8.5346	0.33355	0.0833:0.1537:0.763:0.0	.	310;554	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	554;554;310;310	ENSP00000377789:R554H;ENSP00000428378:R554H;ENSP00000429268:R310H	ENSP00000302139:R310H	R	+	2	0	SYNPO	150008959	0.990000	0.36364	0.998000	0.56505	0.252000	0.25951	2.217000	0.42880	1.182000	0.42928	-0.258000	0.10820	CGC		0.617	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	316	0	0	0	1	0	9	316					A	150028766	G	A	150028766	3	1	79	1	0	0	0	0	1	0	0	0	15508	1087	38	1	1667	1	SYNPO	5	150028766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	150028766	30886494	6739	17056											
MYOZ3	91977	broad.mit.edu	37	chr5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaagtcacacccccaGccccaacgactaccgaaatt	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(559-561)aGc>aTc		myozenin 3							41	43	42					5																	150052037		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150052037G>T	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.560G>T	5.37:g.150052037G>T	ENSP00000297130:p.Ser187Ile					MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H	p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	759	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	187			Binding to ACTN2.			Missense_Mutation	SNP	ENST00000297130.4	37	c.560G>T	CCDS4309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.004|6.004	0.369069|0.369069	0.11352|0.11352	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130;ENST00000523553	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	4.71|4.71	0.856|0.856	0.19019|0.19019	.|.	.|0.558332	.|0.17869	.|N	.|0.159246	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.18935|0.18935	-1.0321|-1.0321	6|10	0.87932|0.35671	D|T	0|0.21	-3.4812|-3.4812	4.3584|4.3584	0.11190|0.11190	0.2635:0.0:0.5748:0.1616|0.2635:0.0:0.5748:0.1616	.|.	.|187	.|Q8TDC0	.|MYOZ3_HUMAN	H|I	103|187;187;95	.|ENSP00000428815:S187I;ENSP00000297130:S187I;ENSP00000430913:S95I	ENSP00000429439:Q103H|ENSP00000297130:S187I	Q|S	+|+	3|2	2|0	MYOZ3|MYOZ3	150032230|150032230	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	-0.065000|-0.065000	0.11617|0.11617	-0.035000|-0.035000	0.13691|0.13691	-0.254000|-0.254000	0.11334|0.11334	CAG|AGC		0.642	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		28	129	1	0	1.12875e-08	1	1.18168e-08	28	129					T	150052037	G	T	150052037	3	4	79	1	0	0	0	0	1	0	0	0	10138	971	34	3	578	3	MYOZ3	5	150052037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23271	150052037	30863223	6740	17057											
MYOZ3	91977	broad.mit.edu	37	chr5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggacccctcgtgggggGcacttttcccaggccaggca	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(622-624)gGc>gAc		myozenin 3							62	73	69					5																	150056304		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150056304G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.623G>A	5.37:g.150056304G>A	ENSP00000297130:p.Gly208Asp					MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000520112.1_Silent_p.G124G	p.G208D	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	822	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	208						Missense_Mutation	SNP	ENST00000297130.4	37	c.623G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255870	0.01457	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.62232	0.04;0.04	5.2	4.05	0.47172	.	0.534254	0.18213	N	0.148114	T	0.30792	0.0776	N	0.03608	-0.345	0.21220	N	0.999752	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	-13.8802	7.1606	0.25662	0.8949:0.0:0.1051:0.0	.	208	Q8TDC0	MYOZ3_HUMAN	D	208	ENSP00000428815:G208D;ENSP00000297130:G208D	ENSP00000297130:G208D	G	+	2	0	MYOZ3	150036497	0.990000	0.36364	0.404000	0.26397	0.005000	0.04900	2.768000	0.47645	0.832000	0.34804	-0.302000	0.09304	GGC		0.627	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		118	569	0	0	0	1	0	118	569					A	150056304	G	A	150056304	3	1	79	1	0	0	0	0	1	0	0	0	10138	1203	42	2	645	2	MYOZ3	5	150056304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4267	150056304	30858956	6741	17058											
RBM22	55696	broad.mit.edu	37	chr5	150071373	150071373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtcctgagaaggataGtggattggtcctggagcccg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000447771.2_Silent_p.H352H|RBM22_ENST00000540000.1_Silent_p.H352H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	401	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAAGGATAGTGGATTGGTC	0.552																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(1201-1203)caC>caT		RNA binding motif protein 22							113	109	111					5																	150071373		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150071373G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1203C>T	5.37:g.150071373G>A						RBM22_ENST00000447771.2_Silent_p.H352H|RBM22_ENST00000540000.1_Silent_p.H352H	p.H401H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1324	-		Medulloblastoma(196;0.167)	401			Pro-rich.		A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.1203C>T	CCDS34278.1																																																																																				0.552	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		81	398	0	0	0	1	0	81	398					A	150071373	G	A	150071373	2	1	79	1	0	0	0	0	0	0	0	1	13172	1020	36	2		2	RBM22	5	150071373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15069	150071373	30843887	6742	17059											
RBM22	55696	broad.mit.edu	37	chr5	150076139	150076139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacactctcctttcacccaGaaggagcaaatgtggggtcg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000447771.2_Silent_p.F118F|RBM22_ENST00000540000.1_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	167					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCCAGAAGGAGCAAA	0.483																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(499-501)ttC>ttT		RNA binding motif protein 22							131	125	127					5																	150076139		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150076139G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.501C>T	5.37:g.150076139G>A						RBM22_ENST00000447771.2_Silent_p.F118F|RBM22_ENST00000540000.1_Silent_p.F118F	p.F167F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	622	-		Medulloblastoma(196;0.167)	167					A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.501C>T	CCDS34278.1																																																																																				0.483	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		50	567	0	0	0	1	0	50	567					A	150076139	G	A	150076139	2	1	79	1	0	0	0	0	0	0	0	1	13172	933	33	2		2	RBM22	5	150076139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4766	150076139	30839121	6743	17060											
RBM22	55696	broad.mit.edu	37	chr5	150078092	150078092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctaagaggcaggtctgacaGacattcttcaatttactgca	8	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCTGACAGACATTCTTCA	0.463																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(238-240)gtC>gtT		RNA binding motif protein 22							124	111	116					5																	150078092		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150078092G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.240C>T	5.37:g.150078092G>A						RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	p.V80V	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	361	-		Medulloblastoma(196;0.167)	80					A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.240C>T	CCDS34278.1																																																																																				0.463	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		24	571	0	0	0	1	0	24	571					A	150078092	G	A	150078092	2	1	79	1	0	0	0	0	0	0	0	1	13172	929	33	2		2	RBM22	5	150078092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1953	150078092	30837168	6744	17061											
DCTN4	51164	broad.mit.edu	37	chr5	150097898	150097898	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcgaagagagtcacatgGgtgaggttctcaactggatt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000446090.2_Silent_p.T344T|DCTN4_ENST00000424236.1_Silent_p.T280T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	337					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACATGGGTGAGGTTCT	0.502																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1009-1011)acC>acA		dynactin 4 (p62)							132	114	120					5																	150097898		2203	4300	6503	SO:0001819	synonymous_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150097898G>T	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1011C>A	5.37:g.150097898G>T						DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	p.T337T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1126	-		Medulloblastoma(196;0.167)	337					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Silent	SNP	ENST00000447998.2	37	c.1011C>A	CCDS4310.1																																																																																				0.502	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			7	181	1	0	0.00307968	1	0.00310409	7	181					T	150097898	G	T	150097898	2	4	79	1	0	0	0	0	0	0	0	1	4320	1219	43	3		3	DCTN4	5	150097898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19806	150097898	30817362	6745	17062											
DCTN4	51164	broad.mit.edu	37	chr5	150136014	150136015	+	Frame_Shift_Ins	INS	-	-	T													tggcttcagccgatggcataINSttttctaaacaactgggaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150136014_150136015insT	ENST00000447998.2	-	2	285_286	c.170_171insA	c.(169-171)aatfs	p.N57fs	DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.N57fs|DCTN4_ENST00000424236.1_5'UTR|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	57					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGATGGCATATTTTCTAAACA	0.351																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(169-171)aatfs		dynactin 4 (p62)																																				SO:0001589	frameshift_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150136014_150136015insT	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.171dupA	5.37:g.150136018_150136018dupT	ENSP00000416968:p.Asn57fs					DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.N57fs|DCTN4_ENST00000424236.1_5'UTR	p.N57fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	285_286	-		Medulloblastoma(196;0.167)	57					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Frame_Shift_Ins	INS	ENST00000447998.2	37	c.170_171insA	CCDS4310.1																																																																																				0.351	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			24	290						24	290	---	---	---	---	T	150136015	-	T	150136014	7	5	79	1	0	1	1	0	0	0	0	0	4320	446	16	0	1284	0	DCTN4	5	150136014	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	38116	150136014	30779246	6746	17063											
ZNF300	91975	broad.mit.edu	37	chr5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatcatcaaaaggtattactCcattgtgaatcttctcaaga	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000274599.5	-	6	1130	c.710G>T	c.(709-711)gGa>gTa	p.G237V	ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	237					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)			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)			AGGTATTACTCCATTGTGAAT	0.343																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(757-759)gGa>gTa		zinc finger protein 300							87	92	90					5																	150276091		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276091C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.710G>T	5.37:g.150276091C>A	ENSP00000274599:p.Gly237Val					ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000274599.5_Missense_Mutation_p.G237V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V	p.G253V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1185	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	237	T -> I (in Ref. 7; CAI46270).				A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.758G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861304	0.32884	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.17;3.17;3.09;3.17	3.04	2.16	0.27623	.	.	.	.	.	T	0.16041	0.0386	L	0.46157	1.445	0.33494	D	0.589114	D	0.60575	0.988	P	0.59825	0.864	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4296	0.32750	0.0:0.8766:0.0:0.1234	.	237	Q96RE9	ZN300_HUMAN	V	253;237;201;237	ENSP00000397178:G253V;ENSP00000274599:G237V;ENSP00000392593:G201V;ENSP00000377773:G237V	ENSP00000274599:G237V	G	-	2	0	ZNF300	150256284	0.000000	0.05858	0.344000	0.25628	0.607000	0.37147	0.109000	0.15417	0.849000	0.35215	0.557000	0.71058	GGA		0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		115	459	1	0	2.42198e-52	1	3.01187e-52	115	459					A	150276091	C	A	150276091	3	1	79	1	0	0	0	0	1	0	0	0	17884	855	30	3	1108	3	ZNF300	5	150276091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140077	150276091	30639169	6747	17064											
ZNF300	91975	broad.mit.edu	37	chr5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccttgtctcccatctgCctgatattcatctggataga	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000274599.5	-	5	670	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T|ZNF300_ENST00000427179.1_Missense_Mutation_p.A84T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	84					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)			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)			CTCCCATCTGCCTGATATTCA	0.363																																						ENST00000427179.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(250-252)Gca>Aca		zinc finger protein 300							187	167	174					5																	150277639		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150277639C>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.250G>A	5.37:g.150277639C>T	ENSP00000274599:p.Ala84Thr					ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T|ZNF300_ENST00000274599.5_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T	p.A84T			Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	476	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	84					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.250G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830383	0.50845	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08102	3.17;3.17;3.13;5.86;3.17	3.48	1.65	0.23941	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.24187	N	0.995566	B	0.10296	0.003	B	0.09377	0.004	T	0.45483	-0.9258	9	0.22109	T	0.4	.	7.2149	0.25955	0.0:0.7715:0.0:0.2285	.	84	Q96RE9	ZN300_HUMAN	T	100;84;48;84;84	ENSP00000397178:A100T;ENSP00000274599:A84T;ENSP00000392593:A48T;ENSP00000414195:A84T;ENSP00000377773:A84T	ENSP00000274599:A84T	A	-	1	0	ZNF300	150257832	0.004000	0.15560	0.827000	0.32855	0.975000	0.68041	0.432000	0.21461	0.287000	0.22375	0.563000	0.77884	GCA		0.363	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		80	358	0	0	0	1	0	80	358					T	150277639	C	T	150277639	3	4	79	1	0	0	0	0	1	0	0	0	17884	739	26	2	1572	2	ZNF300	5	150277639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	150277639	30637621	6748	17065											
ANXA6	309	broad.mit.edu	37	chr5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcagagcatcctccaggGacttgtgatagtctgaggca	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	484					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCAGGGACTTGTGATA	0.577																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1450-1452)tCc>tTc		annexin A6							48	52	51					5																	150497386		1941	4132	6073	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150497386G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1451C>T	5.37:g.150497386G>A	ENSP00000346550:p.Ser484Phe					ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F	p.S484F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	1678	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	484					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1451C>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899076	0.72754	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.181657	0.48286	D	0.000185	T	0.33352	0.0860	H	0.95260	3.645	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.72338	0.977;0.869;0.908	T	0.51284	-0.8725	10	0.87932	D	0	.	17.6098	0.88049	0.0:0.0:1.0:0.0	.	277;484;484	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	F	484;452;141;484;277;358	ENSP00000346550:S484F;ENSP00000430517:S452F;ENSP00000366980:S141F;ENSP00000348889:S484F;ENSP00000430420:S277F	ENSP00000346550:S484F	S	-	2	0	ANXA6	150477579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.438000	0.82558	0.561000	0.74099	TCC		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		28	113	0	0	0	1	0	28	113					A	150497386	G	A	150497386	3	1	79	1	0	0	0	0	1	0	0	0	722	1174	41	2	602	2	ANXA6	5	150497386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219747	150497386	30417874	6749	17066											
ANXA6	309	broad.mit.edu	37	chr5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcagcattggtccgaGtggccaggatttcaataaga	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I|ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	464					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGTCCGAGTGGCCAGGAT	0.552																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1390-1392)aCt>aTt		annexin A6							100	100	100					5																	150498908		1894	4107	6001	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150498908G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1391C>T	5.37:g.150498908G>A	ENSP00000346550:p.Thr464Ile					ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I	p.T464I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1618	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	464					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1391C>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920715	0.92249	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.36	5.36	0.76844	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13335	-1.0513	10	0.87932	D	0	.	17.8553	0.88761	0.0:0.0:1.0:0.0	.	257;464;464	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	464;432;121;464;257;338	ENSP00000346550:T464I;ENSP00000430517:T432I;ENSP00000366980:T121I;ENSP00000348889:T464I;ENSP00000430420:T257I	ENSP00000346550:T464I	T	-	2	0	ANXA6	150479101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	2.502000	0.84385	0.655000	0.94253	ACT		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		71	286	0	0	0	1	0	71	286					A	150498908	G	A	150498908	3	1	79	1	0	0	0	0	1	0	0	0	722	1029	36	2	666	2	ANXA6	5	150498908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1522	150498908	30416352	6750	17067											
CCDC69	26112	broad.mit.edu	37	chr5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttatatccttctggtgcCgctcagcctcctctgatgca	9	13	3	1	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTGGTGCCGCTCAGCCTC	0.448																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(163-165)cGg>cAg		coiled-coil domain containing 69		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	163	145	151		164	0.3	0.2	5	dbSNP_134	151	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CCDC69	NM_015621.2	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	55/297	150581210	3,13003	2203	4300	6503	SO:0001583	missense	26112							g.chr5:150581210C>T		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.164G>A	5.37:g.150581210C>T	ENSP00000347586:p.Arg55Gln					CCDC69_ENST00000521308.1_5'UTR	p.R55Q	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	338	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	55					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.164G>A	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210283	0.06140	2.27E-4	2.33E-4	ENSG00000198624	ENST00000355417	T	0.20598	2.06	4.28	0.265	0.15612	.	0.987391	0.08243	N	0.975854	T	0.07413	0.0187	N	0.01576	-0.805	0.21355	N	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.23891	T	0.37	-12.4226	7.9704	0.30124	0.0:0.195:0.0:0.805	.	55	A6NI79	CCD69_HUMAN	Q	55	ENSP00000347586:R55Q	ENSP00000347586:R55Q	R	-	2	0	CCDC69	150561403	0.933000	0.31639	0.158000	0.22627	0.025000	0.11179	0.372000	0.20467	-0.012000	0.14223	-1.119000	0.02030	CGG		0.448	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		89	357	0	0	0	1	0	89	357					T	150581210	C	T	150581210	3	4	79	1	0	0	0	0	1	0	0	0	2848	652	23	1	754	1	CCDC69	5	150581210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82302	150581210	30334050	6751	17068											
SLC36A3	285641	broad.mit.edu	37	chr5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaagggtaggttgctgGgatatggaatcccctaaaag	12	8	1	0	rs202009800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	241						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(721-723)cCc>cAc		solute carrier family 36, member 3							103	93	97					5																	150664259		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150664259G>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.722C>A	5.37:g.150664259G>T	ENSP00000334750:p.Pro241His					SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	p.P241H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1133	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	241					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.722C>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438396	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.35	3.45	0.39498	.	0.052083	0.85682	N	0.000000	T	0.07548	0.0190	M	0.77103	2.36	0.45354	D	0.99834	B;P;B	0.38223	0.241;0.623;0.258	B;P;B	0.50192	0.202;0.634;0.202	T	0.35992	-0.9766	10	0.15499	T	0.54	.	13.1275	0.59364	0.0:0.0:0.8332:0.1668	.	282;241;226	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	241;282	ENSP00000334750:P241H;ENSP00000366942:P282H	ENSP00000334750:P241H	P	-	2	0	SLC36A3	150644452	1.000000	0.71417	0.864000	0.33941	0.342000	0.28953	6.764000	0.74960	1.125000	0.41998	0.655000	0.94253	CCC		0.473	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		17	179	1	0	5.03518e-11	1	5.3609e-11	17	179					T	150664259	G	T	150664259	3	4	79	1	0	0	0	0	1	0	0	0	14645	1232	43	3	706	3	SLC36A3	5	150664259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83049	150664259	30251001	6752	17069											
SLC36A3	285641	broad.mit.edu	37	chr5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaggccgtacatcgtgGcctctccatagttcacaaaa	7	12	3	0	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	114						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(340-342)gCc>gTc		solute carrier family 36, member 3							96	77	83					5																	150672988		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150672988G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.341C>T	5.37:g.150672988G>A	ENSP00000334750:p.Ala114Val					SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	114					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.341C>T	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	6.365	0.435412	0.12045	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04360	3.64;3.89	4.2	3.34	0.38264	.	0.227351	0.44285	D	0.000473	T	0.03348	0.0097	N	0.17278	0.47	0.34852	D	0.741785	B;B;B	0.17465	0.007;0.022;0.006	B;B;B	0.23419	0.017;0.046;0.041	T	0.32903	-0.9889	10	0.09843	T	0.71	-0.3054	12.057	0.53540	0.084:0.0:0.916:0.0	.	114;114;58	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	114	ENSP00000334750:A114V;ENSP00000366942:A114V	ENSP00000334750:A114V	A	-	2	0	SLC36A3	150653181	0.998000	0.40836	0.908000	0.35775	0.608000	0.37181	4.935000	0.63498	1.004000	0.39156	0.585000	0.79938	GCC		0.438	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		23	105	0	0	0	1	0	23	105					A	150672988	G	A	150672988	3	1	79	1	0	0	0	0	1	0	0	0	14645	1203	42	2	1226	2	SLC36A3	5	150672988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8729	150672988	30242272	6753	17070											
SLC36A2	153201	broad.mit.edu	37	chr5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttggcactttcaggaggcGacataaggtccaatttgatg	11	8	2	1	rs539289088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	22					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TTCAGGAGGCGACATAAGGTC	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.002					ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(64-66)tCg>tTg		solute carrier family 36 (proton/amino acid symporter), member 2							215	210	212					5																	150726957		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150726957G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.65C>T	5.37:g.150726957G>A	ENSP00000334223:p.Ser22Leu					SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	194	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	22					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.65C>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885151	0.33255	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10099	3.73;2.91	5.0	2.2	0.27929	.	0.695646	0.13942	N	0.352155	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	D;P;B	0.54772	0.968;0.553;0.211	B;B;B	0.33339	0.162;0.118;0.037	T	0.37663	-0.9696	10	0.34782	T	0.22	-0.4317	3.6879	0.08335	0.0901:0.1665:0.5709:0.1725	.	22;22;22	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	22	ENSP00000334223:S22L;ENSP00000430535:S22L	ENSP00000334223:S22L	S	-	2	0	SLC36A2	150707150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.591000	0.23969	0.362000	0.24319	0.655000	0.94253	TCG		0.488	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			112	986	0	0	0	1	0	112	986					A	150726957	G	A	150726957	3	1	79	1	0	0	0	0	1	0	0	0	14644	1059	37	1	1426	1	SLC36A2	5	150726957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53969	150726957	30188303	6754	17071											
SLC36A1	206358	broad.mit.edu	37	chr5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtctttcagaggatcccaGaccccagccacctccccttg	7	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	245					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GAGGATCCCAGACCCCAGCCA	0.458																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(733-735)Gac>Tac		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						180	196	191					5																	150853243		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150853243G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.733G>T	5.37:g.150853243G>T	ENSP00000243389:p.Asp245Tyr					SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y	p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	956	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	245					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.733G>T	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566284	0.27915	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.32515	4.41;4.41;4.41;1.45	5.34	-0.673	0.11373	.	0.550392	0.19839	N	0.104888	T	0.29223	0.0727	M	0.64676	1.99	0.40614	D	0.9817	B;B	0.21606	0.025;0.058	B;B	0.29353	0.075;0.101	T	0.08472	-1.0720	10	0.39692	T	0.17	.	9.5424	0.39260	0.4302:0.0:0.5698:0.0	.	245;245	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Y	245;245;245;245;4	ENSP00000428140:D245Y;ENSP00000243389:D245Y;ENSP00000430305:D245Y;ENSP00000428738:D4Y	ENSP00000243389:D245Y	D	+	1	0	SLC36A1	150833436	0.111000	0.22076	0.872000	0.34217	0.956000	0.61745	0.393000	0.20817	-0.333000	0.08476	0.655000	0.94253	GAC		0.458	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		210	934	1	0	3.33071e-83	1	4.26405e-83	210	934					T	150853243	G	T	150853243	3	4	79	1	0	0	0	0	1	0	0	0	14643	942	33	3	759	3	SLC36A1	5	150853243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126286	150853243	30062017	6755	17072											
FAT2	2196	broad.mit.edu	37	chr5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtgagacttgcaacggCggcagtagaagagaagcccg	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4071					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)			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)			CTTGCAACGGCGGCAGTAGAA	0.577																																						ENST00000261800.5																			0				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						c.(12211-12213)cGc>cAc		FAT atypical cadherin 2							66	70	69					5																	150887020		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.chr5:150887020C>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.12212G>A	5.37:g.150887020C>T	ENSP00000261800:p.Arg4071His						p.R4071H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12224	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4071					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12212G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513696	0.44763	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.6	4.54	0.55810	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000020	T	0.63510	0.2517	L	0.39147	1.195	0.39358	D	0.965872	B;B	0.19935	0.032;0.04	B;B	0.08055	0.003;0.003	T	0.59397	-0.7462	10	0.23891	T	0.37	.	12.5214	0.56060	0.0:0.863:0.0:0.137	.	4071;1176	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4071	ENSP00000261800:R4071H	ENSP00000261800:R4071H	R	-	2	0	FAT2	150867213	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	2.636000	0.89361	0.655000	0.94253	CGC		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		79	375	0	0	0	1	0	79	375					T	150887020	C	T	150887020	3	4	79	1	0	0	0	0	1	0	0	0	5715	768	27	1	845	1	FAT2	5	150887020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33777	150887020	30028240	6756	17073											
FAT2	2196	broad.mit.edu	37	chr5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggctgttatcattgacgtCcaggacaaagatctccacag	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3003	Cadherin 26. {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)			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)			TCATTGACGTCCAGGACAAAG	0.547																																						ENST00000261800.5																			0				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						c.(9007-9009)Gac>Aac		FAT atypical cadherin 2							94	79	84					5																	150920160		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.chr5:150920160C>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.9007G>A	5.37:g.150920160C>T	ENSP00000261800:p.Asp3003Asn						p.D3003N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	9019	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3003			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9007G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367829	0.95900	.	.	ENSG00000086570	ENST00000261800	T	0.03468	3.92	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.24236	0.0587	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03773	-1.1005	10	0.52906	T	0.07	.	18.5669	0.91120	0.0:1.0:0.0:0.0	.	3003	Q9NYQ8	FAT2_HUMAN	N	3003	ENSP00000261800:D3003N	ENSP00000261800:D3003N	D	-	1	0	FAT2	150900353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.755000	0.85180	2.401000	0.81631	0.462000	0.41574	GAC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	166	0	0	0	1	0	27	166					T	150920160	C	T	150920160	3	4	79	1	0	0	0	0	1	0	0	0	5715	855	30	2	4098	2	FAT2	5	150920160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33140	150920160	29995100	6757	17074											
FAT2	2196	broad.mit.edu	37	chr5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgaaaaacttcaaggcCtccggctccaaaattttata	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1808	Cadherin 16. {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)			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)			ACTTCAAGGCCTCCGGCTCCA	0.413																																						ENST00000261800.5																			0				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						c.(5422-5424)gaG>gaT		FAT atypical cadherin 2							54	56	55					5																	150925264		2202	4300	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925264C>A	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.5424G>T	5.37:g.150925264C>A	ENSP00000261800:p.Glu1808Asp						p.E1808D	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5436	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1808			Cadherin 16.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5424G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492075	0.26774	.	.	ENSG00000086570	ENST00000261800	T	0.59083	0.29	5.25	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.58090	0.2098	L	0.33624	1.015	0.33432	D	0.581211	D	0.76494	0.999	D	0.72075	0.976	T	0.60469	-0.7257	10	0.11485	T	0.65	.	11.0364	0.47804	0.0:0.5115:0.0:0.4885	.	1808	Q9NYQ8	FAT2_HUMAN	D	1808	ENSP00000261800:E1808D	ENSP00000261800:E1808D	E	-	3	2	FAT2	150905457	0.922000	0.31269	0.215000	0.23724	0.968000	0.65278	0.106000	0.15354	-0.076000	0.12775	0.467000	0.42956	GAG		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		114	395	1	0	3.10586e-51	1	3.85317e-51	114	395					A	150925264	C	A	150925264	3	1	79	1	0	0	0	0	1	0	0	0	5715	680	24	3	7685	3	FAT2	5	150925264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5104	150925264	29989996	6758	17075											
FAT2	2196	broad.mit.edu	37	chr5	150925761	150925761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatgatcactgtagccaGgtcatgccattgtggggagc	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1643	Cadherin 14. {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)			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)			ACTGTAGCCAGGTCATGCCAT	0.463																																						ENST00000261800.5																			0				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						c.(4927-4929)Ctg>Ttg		FAT atypical cadherin 2							124	120	121					5																	150925761		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925761G>A	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.4927C>T	5.37:g.150925761G>A							p.L1643L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	4939	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1643			Cadherin 14.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4927C>T	CCDS4317.1																																																																																				0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		17	282	0	0	0	1	0	17	282					A	150925761	G	A	150925761	2	1	79	1	0	0	0	0	0	0	0	1	5715	991	35	2		2	FAT2	5	150925761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	150925761	29989499	6759	17076											
FAT2	2196	broad.mit.edu	37	chr5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgagccgaggtccaAttttcccaccgttaccagga	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1512	Cadherin 13. {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)			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)			CCGAGGTCCAATTTTCCCACC	0.527																																						ENST00000261800.5																			0				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						c.(4534-4536)Ttg>Gtg		FAT atypical cadherin 2							96	88	91					5																	150930195		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.chr5:150930195A>C	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.4534T>G	5.37:g.150930195A>C	ENSP00000261800:p.Leu1512Val						p.L1512V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4546	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1512			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4534T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878017	0.33162	.	.	ENSG00000086570	ENST00000261800	T	0.73152	-0.72	4.96	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	0.136124	0.32901	N	0.005516	D	0.83408	0.5248	M	0.92604	3.325	0.40652	D	0.982044	D	0.64830	0.994	D	0.63597	0.916	T	0.82872	-0.0242	10	0.72032	D	0.01	.	10.8168	0.46580	0.3463:0.0:0.6537:0.0	.	1512	Q9NYQ8	FAT2_HUMAN	V	1512	ENSP00000261800:L1512V	ENSP00000261800:L1512V	L	-	1	2	FAT2	150910388	0.976000	0.34144	0.423000	0.26634	0.024000	0.10985	0.208000	0.17415	-0.781000	0.04548	-0.248000	0.11899	TTG		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		88	290	0	0	0	1	0	88	290					C	150930195	A	C	150930195	3	2	79	1	0	0	0	0	1	0	0	0	5715	98	4	4	8583	4	FAT2	5	150930195	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4434	150930195	29985065	6760	17077											
FAT2	2196	broad.mit.edu	37	chr5	150930355	150930355	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctggcacggtgtcctgGggaactctgacttcataacg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1458	Cadherin 13. {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)			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)			CGGTGTCCTGGGGAACTCTGA	0.527																																						ENST00000261800.5																			0				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						c.(4372-4374)ccC>ccA		FAT atypical cadherin 2							92	85	87					5																	150930355		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150930355G>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.4374C>A	5.37:g.150930355G>T							p.P1458P	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4386	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1458			Cadherin 13.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4374C>A	CCDS4317.1																																																																																				0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		36	168	1	0	9.65963e-10	1	1.01978e-09	36	168					T	150930355	G	T	150930355	2	4	79	1	0	0	0	0	0	0	0	1	5715	1219	43	3		3	FAT2	5	150930355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	150930355	29984905	6761	17078											
FAT2	2196	broad.mit.edu	37	chr5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcgatactgaaggcctCctcatcgctgtcctcgatac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1289	Cadherin 11. {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)			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)			CTGAAGGCCTCCTCATCGCTG	0.547																																						ENST00000261800.5																			0				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						c.(3865-3867)Gag>Aag		FAT atypical cadherin 2							144	123	130					5																	150934003		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.chr5:150934003C>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.3865G>A	5.37:g.150934003C>T	ENSP00000261800:p.Glu1289Lys						p.E1289K	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3877	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1289			Cadherin 11.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3865G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725474	0.30593	.	.	ENSG00000086570	ENST00000261800	T	0.01705	4.68	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.339974	0.26207	N	0.025707	T	0.02267	0.0070	L	0.35341	1.055	0.37125	D	0.901	B	0.13594	0.008	B	0.19666	0.026	T	0.54768	-0.8244	10	0.10902	T	0.67	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1289	Q9NYQ8	FAT2_HUMAN	K	1289	ENSP00000261800:E1289K	ENSP00000261800:E1289K	E	-	1	0	FAT2	150914196	0.271000	0.24162	0.935000	0.37517	0.399000	0.30720	2.378000	0.44309	2.713000	0.92767	0.655000	0.94253	GAG		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		100	396	0	0	0	1	0	100	396					T	150934003	C	T	150934003	3	4	79	1	0	0	0	0	1	0	0	0	5715	864	30	2	9264	2	FAT2	5	150934003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3648	150934003	29981257	6762	17079											
FAT2	2196	broad.mit.edu	37	chr5	150945633	150945633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcacctgcggggcccaGgtcaggatcagaggcatcca	12	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	954	Cadherin 8. {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)			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)			GCGGGGCCCAGGTCAGGATCA	0.587																																						ENST00000261800.5																			0				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						c.(2860-2862)Ctg>Ttg		FAT atypical cadherin 2							51	53	52					5																	150945633		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945633G>A	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.2860C>T	5.37:g.150945633G>A							p.L954L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2872	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	954			Cadherin 8.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.2860C>T	CCDS4317.1																																																																																				0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	202	0	0	0	1	0	30	202					A	150945633	G	A	150945633	2	1	79	1	0	0	0	0	0	0	0	1	5715	991	35	2		2	FAT2	5	150945633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11630	150945633	29969627	6763	17080											
FAT2	2196	broad.mit.edu	37	chr5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggtgatcaacccagttCgagcattaagtttaaatcct	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3. {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)			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)			CAACCCAGTTCGAGCATTAAG	0.537																																						ENST00000261800.5																			0				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						c.(1231-1233)cGa>cAa		FAT atypical cadherin 2							101	96	97					5																	150947261		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.chr5:150947261C>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.1232G>A	5.37:g.150947261C>T	ENSP00000261800:p.Arg411Gln						p.R411Q	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	411			Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1232G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294508	0.23564	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.59	2.72	0.32119	Cadherin (3);Cadherin-like (1);	0.430470	0.22979	N	0.053331	T	0.34454	0.0898	L	0.37466	1.105	0.09310	N	1	P	0.37158	0.585	B	0.25140	0.058	T	0.13656	-1.0501	10	0.13108	T	0.6	.	6.1698	0.20410	0.0:0.4562:0.0:0.5437	.	411	Q9NYQ8	FAT2_HUMAN	Q	411	ENSP00000261800:R411Q	ENSP00000261800:R411Q	R	-	2	0	FAT2	150927454	1.000000	0.71417	0.414000	0.26521	0.891000	0.51852	1.743000	0.38258	0.675000	0.31264	0.561000	0.74099	CGA		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		88	291	0	0	0	1	0	88	291					T	150947261	C	T	150947261	3	4	79	1	0	0	0	0	1	0	0	0	5715	884	31	1	11909	1	FAT2	5	150947261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	150947261	29967999	6764	17081											
FAT2	2196	broad.mit.edu	37	chr5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccacagtgaccacacCgctggtgggatggatggcaa	13	13	0	1	rs372731700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> A (in dbSNP:rs11739693).		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)			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)			GTGACCACACCGCTGGTGGGA	0.532																																						ENST00000261800.5																			0				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						c.(601-603)Ggt>Agt		FAT atypical cadherin 2							89	81	84					5																	150947892		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.chr5:150947892C>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.601G>A	5.37:g.150947892C>T	ENSP00000261800:p.Gly201Ser						p.G201S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	613	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	201		G -> A (in dbSNP:rs11739693).	Cadherin 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.601G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847465	0.91277	.	.	ENSG00000086570	ENST00000261800	D	0.91407	-2.84	5.61	5.61	0.85477	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.97480	0.9175	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	201	Q9NYQ8	FAT2_HUMAN	S	201	ENSP00000261800:G201S	ENSP00000261800:G201S	G	-	1	0	FAT2	150928085	1.000000	0.71417	0.186000	0.23195	0.863000	0.49368	7.755000	0.85180	2.643000	0.89663	0.555000	0.69702	GGT		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		44	369	0	0	0	1	0	44	369					T	150947892	C	T	150947892	3	4	79	1	0	0	0	0	1	0	0	0	5715	652	23	1	12540	1	FAT2	5	150947892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	631	150947892	29967368	6765	17082											
FAT2	2196	broad.mit.edu	37	chr5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagctctccacataggTcttgggagaagaattttcat	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	50	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)			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)			TCCACATAGGTCTTGGGAGAA	0.502																																						ENST00000261800.5																			0				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						c.(148-150)Acc>Gcc		FAT atypical cadherin 2							118	120	119					5																	150948345		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.chr5:150948345T>C	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.148A>G	5.37:g.150948345T>C	ENSP00000261800:p.Thr50Ala						p.T50A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	160	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	50			Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.148A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547644	0.86022	.	.	ENSG00000086570	ENST00000261800	T	0.72051	-0.62	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.82195	0.4984	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	P	0.58266	0.836	D	0.85066	0.0937	10	0.66056	D	0.02	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	50	Q9NYQ8	FAT2_HUMAN	A	50	ENSP00000261800:T50A	ENSP00000261800:T50A	T	-	1	0	FAT2	150928538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.023000	0.59567	0.459000	0.35465	ACC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		147	623	0	0	0	1	0	147	623					C	150948345	T	C	150948345	3	2	79	1	0	0	0	0	1	0	0	0	5715	1667	58	4	12993	4	FAT2	5	150948345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	150948345	29966915	6766	17083											
G3BP1	10146	broad.mit.edu	37	chr5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcccctgctggtcgggCgggaatttgtgagacagtat	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	13	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTGGTCGGGCGGGAATTTGT	0.468																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(37-39)Cgg>Tgg		GTPase activating protein (SH3 domain) binding protein 1							141	137	138					5																	151166218		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166218C>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.37C>T	5.37:g.151166218C>T	ENSP00000377681:p.Arg13Trp					G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W	p.R13W			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	182	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	13			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.37C>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374603	0.82573	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.71103	-0.54;-0.54	5.05	3.25	0.37280	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.45352	1.415	0.80722	D	1	D;B	0.89917	1.0;0.151	D;B	0.69824	0.966;0.02	T	0.76323	-0.3001	10	0.72032	D	0.01	-12.1306	11.0913	0.48117	0.0:0.8489:0.0:0.1511	.	13;13	E5RJU8;Q13283	.;G3BP1_HUMAN	W	13	ENSP00000377681:R13W;ENSP00000348578:R13W	ENSP00000274596:R13W	R	+	1	2	G3BP1	151146411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.519000	0.60517	0.641000	0.30601	0.491000	0.48974	CGG		0.468	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		53	562	0	0	0	1	0	53	562					T	151166218	C	T	151166218	3	4	79	1	0	0	0	0	1	0	0	0	6168	759	27	1	39	1	G3BP1	5	151166218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217873	151166218	29749042	6767	17084											
G3BP1	10146	broad.mit.edu	37	chr5	151175110	151175110	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacctgatgattctggAactttctatgatcaggcagt	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Silent_p.G171G			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	171	Glu-rich.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGATTCTGGAACTTTCTATG	0.408																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(511-513)ggA>ggC		GTPase activating protein (SH3 domain) binding protein 1							144	152	149					5																	151175110		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151175110A>C	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.513A>C	5.37:g.151175110A>C						G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Silent_p.G171G	p.G171G			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	658	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	171			Glu-rich.		Q5HYE9	Silent	SNP	ENST00000394123.3	37	c.513A>C	CCDS4319.1																																																																																				0.408	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		92	410	0	0	0	1	0	92	410					C	151175110	A	C	151175110	2	2	79	1	0	0	0	0	0	0	0	1	6168	233	9	4		4	G3BP1	5	151175110	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8892	151175110	29740150	6768	17085											
G3BP1	10146	broad.mit.edu	37	chr5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagcccatcatgttcagaGgtgaggtccgtctgaatgtc	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C|G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	404	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CATGTTCAGAGGTGAGGTCCG	0.502																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1210-1212)Ggt>Tgt		GTPase activating protein (SH3 domain) binding protein 1							67	67	67					5																	151183461		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151183461G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1210G>T	5.37:g.151183461G>T	ENSP00000377681:p.Gly404Cys					G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C|G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C	p.G404C			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	1355	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	404			RRM.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.1210G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223942	0.58668	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.80304	-1.24;-1.36;-1.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.046297	0.85682	D	0.000000	T	0.80884	0.4709	L	0.60455	1.87	0.80722	D	1	P	0.38420	0.63	B	0.38616	0.277	T	0.82744	-0.0306	10	0.87932	D	0	0.4932	19.7859	0.96437	0.0:0.0:1.0:0.0	.	404	Q13283	G3BP1_HUMAN	C	404;222;404;246	ENSP00000377681:G404C;ENSP00000445035:G222C;ENSP00000348578:G404C	ENSP00000274596:G246C	G	+	1	0	G3BP1	151163654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.018000	0.93657	2.746000	0.94184	0.655000	0.94253	GGT		0.502	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		29	399	1	0	3.57733e-08	1	3.7302e-08	29	399					T	151183461	G	T	151183461	3	4	79	1	0	0	0	0	1	0	0	0	6168	1000	35	3	1252	3	G3BP1	5	151183461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8351	151183461	29731799	6769	17086											
NMUR2	56923	broad.mit.edu	37	chr5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C													actgtttgtggaaagaagagAtcacattctggaatgctgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	342					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAAGAAGAGATCACATTCTG	0.527																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1024-1026)aTc>aGc		neuromedin U receptor 2							141	132	135					5																	151771975		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771975A>C	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1025T>G	5.37:g.151771975A>C	ENSP00000255262:p.Ile342Ser						p.I342S	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1190	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	342					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1025T>G	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	8.584	0.883000	0.17467	.	.	ENSG00000132911	ENST00000255262	T	0.39056	1.1	4.79	3.61	0.41365	.	0.209202	0.33005	N	0.005396	T	0.39145	0.1067	L	0.56769	1.78	0.38254	D	0.941691	B	0.17465	0.022	B	0.10450	0.005	T	0.39035	-0.9633	10	0.87932	D	0	-24.3878	10.7901	0.46428	0.8405:0.1595:0.0:0.0	.	342	Q9GZQ4	NMUR2_HUMAN	S	342	ENSP00000255262:I342S	ENSP00000255262:I342S	I	-	2	0	NMUR2	151752168	1.000000	0.71417	0.818000	0.32626	0.118000	0.20060	3.330000	0.52068	0.771000	0.33359	-0.644000	0.03951	ATC		0.527	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		117	470	0	0	0	1	0	117	470					C	151771975	A	C	151771975	3	2	79	1	0	0	0	0	1	0	0	0	10549	333	12	4	226	4	NMUR2	5	151771975	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588514	151771975	29143285	6770	17087	102	2									
NMUR2	56923	broad.mit.edu	37	chr5	151771983	151771983	+	Missense_Mutation	SNP	C	C	A													tggaaagaagagatcacattCtggaatgctgcctggaagcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771983C>A	ENST00000255262.3	-	4	1182	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	339					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATCACATTCTGGAATGCTG	0.507																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1015-1017)caG>caT		neuromedin U receptor 2							133	126	128					5																	151771983		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771983C>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1017G>T	5.37:g.151771983C>A	ENSP00000255262:p.Gln339His						p.Q339H	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1182	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	339					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1017G>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493059	0.26774	.	.	ENSG00000132911	ENST00000255262	T	0.37584	1.19	5.0	3.16	0.36331	.	0.515296	0.17367	N	0.176803	T	0.25568	0.0622	L	0.34521	1.04	0.24922	N	0.991976	P	0.36438	0.553	B	0.35510	0.204	T	0.12578	-1.0542	10	0.52906	T	0.07	-3.5584	7.8999	0.29729	0.0:0.6997:0.1371:0.1632	.	339	Q9GZQ4	NMUR2_HUMAN	H	339	ENSP00000255262:Q339H	ENSP00000255262:Q339H	Q	-	3	2	NMUR2	151752176	0.497000	0.26067	0.167000	0.22817	0.225000	0.24961	0.854000	0.27791	1.213000	0.43380	0.467000	0.42956	CAG		0.507	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		19	571	1	0	6.33239e-15	1	6.89894e-15	19	571					A	151771983	C	A	151771983	3	1	79	1	0	0	0	0	1	0	0	0	10549	912	32	3	234	3	NMUR2	5	151771983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	151771983	29143277	6771	17088	102	2									
NMUR2	56923	broad.mit.edu	37	chr5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagtttggcgcggaacGggtgtaggatggccacgtag	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.P151R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCGCGGAACGGGTGTAGGAT	0.642																																						ENST00000255262.3																			1	Substitution - Missense(1)	p.P151R(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(451-453)cCg>cTg		neuromedin U receptor 2							49	55	53					5																	151784223		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784223G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.452C>T	5.37:g.151784223G>A	ENSP00000255262:p.Pro151Leu					NMUR2_ENST00000518933.1_Intron	p.P151L	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	617	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	151					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.452C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545940	0.86022	.	.	ENSG00000132911	ENST00000255262	T	0.61274	0.12	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88036	0.6329	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93720	0.7032	10	0.87932	D	0	-21.6404	18.0632	0.89383	0.0:0.0:1.0:0.0	.	151	Q9GZQ4	NMUR2_HUMAN	L	151	ENSP00000255262:P151L	ENSP00000255262:P151L	P	-	2	0	NMUR2	151764416	1.000000	0.71417	0.946000	0.38457	0.607000	0.37147	9.507000	0.97996	2.502000	0.84385	0.591000	0.81541	CCG		0.642	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		93	396	0	0	0	1	0	93	396					A	151784223	G	A	151784223	3	1	79	1	0	0	0	0	1	0	0	0	10549	1116	39	1	811	1	NMUR2	5	151784223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12240	151784223	29131037	6772	17089											
GRIA1	2890	broad.mit.edu	37	chr5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacagctttgagatgaCctatagatgtaagtaattgc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000285900.5	+	2	555	c.212C>T	c.(211-213)aCc>aTc	p.T71I	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	71					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTGAGATGACCTATAGATGT	0.458																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(211-213)aCc>aTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						84	85	85					5																	152873617		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152873617C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.212C>T	5.37:g.152873617C>T	ENSP00000285900:p.Thr71Ile					GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I	p.T71I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	555	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	71					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.212C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437375	0.43224	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.26067	1.97;1.76;1.97;2.58;2.56;1.97;1.97	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.206078	0.49916	D	0.000127	T	0.44829	0.1312	L	0.50333	1.59	0.51767	D	0.999932	D;D;D;D;D;P	0.60575	0.988;0.988;0.985;0.988;0.985;0.936	P;P;P;P;P;P	0.61477	0.696;0.696;0.889;0.696;0.57;0.614	T	0.34527	-0.9825	10	0.87932	D	0	.	18.3214	0.90239	0.0:1.0:0.0:0.0	.	81;81;71;81;71;71	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	I	71;71;71;71;2;2;81;81	ENSP00000285900:T71I;ENSP00000427920:T71I;ENSP00000339343:T71I;ENSP00000427864:T2I;ENSP00000442108:T2I;ENSP00000428994:T81I;ENSP00000415569:T81I	ENSP00000285900:T71I	T	+	2	0	GRIA1	152853810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.548000	0.85928	0.655000	0.94253	ACC		0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			14	367	0	0	0	1	0	14	367					T	152873617	C	T	152873617	3	4	79	1	0	0	0	0	1	0	0	0	6797	507	18	2	218	2	GRIA1	5	152873617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1089394	152873617	28041643	6773	17090											
GRIA1	2890	broad.mit.edu	37	chr5	153056565	153056565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactagtacacctctgcGctcacctacgatggggtgaa	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(871-873)gcG>gcA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						85	83	83					5																	153056565		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056565G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.873G>A	5.37:g.153056565G>A						GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A	p.A291A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1216	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	291					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.873G>A	CCDS4322.1																																																																																				0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			69	236	0	0	0	1	0	69	236					A	153056565	G	A	153056565	2	1	79	1	0	0	0	0	0	0	0	1	6797	1074	38	1		1	GRIA1	5	153056565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182948	153056565	27858695	6774	17091											
MFAP3	4238	broad.mit.edu	37	chr5	153433216	153433216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccacctgatgatataggAtctgcagaatctaactgtaa	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	344					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1030-1032)ggA>ggG		microfibrillar-associated protein 3							91	90	91					5																	153433216		2203	4300	6503	SO:0001819	synonymous_variant	4238					integral to membrane|plasma membrane		g.chr5:153433216A>G		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1032A>G	5.37:g.153433216A>G						MFAP3_ENST00000322602.5_Silent_p.G344G|MFAP3_ENST00000439768.2_Silent_p.G198G	p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1251	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	344					B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	c.1032A>G	CCDS4324.1																																																																																				0.418	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		121	448	0	0	0	1	0	121	448					G	153433216	A	G	153433216	2	3	79	1	0	0	0	0	0	0	0	1	9556	320	12	4		4	MFAP3	5	153433216	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376651	153433216	27482044	6775	17092											
GALNT10	55568	broad.mit.edu	37	chr5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccctctagctgcaacaGcaagcgctacctggagacac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	137					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(409-411)aGc>aAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							149	114	126					5																	153709140		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153709140G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.410G>A	5.37:g.153709140G>A	ENSP00000297107:p.Ser137Asn					GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA	p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	547	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	137					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.410G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131167	0.21041	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59224	0.28;0.28;0.28	5.28	0.487	0.16842	.	0.370552	0.30840	N	0.008778	T	0.32010	0.0815	N	0.11892	0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06338	-1.0832	10	0.14656	T	0.56	.	9.373	0.38266	0.5571:0.0:0.4429:0.0	.	137;137;137	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	137	ENSP00000415210:S137N;ENSP00000297107:S137N;ENSP00000366889:S137N	ENSP00000297107:S137N	S	+	2	0	GALNT10	153689333	0.987000	0.35691	0.989000	0.46669	0.997000	0.91878	1.249000	0.32839	0.003000	0.14656	0.655000	0.94253	AGC		0.572	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		79	308	0	0	0	1	0	79	308					A	153709140	G	A	153709140	3	1	79	1	0	0	0	0	1	0	0	0	6236	971	34	2	424	2	GALNT10	5	153709140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275924	153709140	27206120	6776	17093											
GALNT10	55568	broad.mit.edu	37	chr5	153795488	153795488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagctgtggaaataccGcaaagtaagatgggatgcgg	13	8	0	1	rs145995359	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153795488G>A	ENST00000297107.6	+	11	1786	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	550	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGAAATACCGCAAAGTAAGA	0.507																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1648-1650)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		G	HIS/ARG	3,4403	8.1+/-20.4	0,3,2200	75	70	72		1649	5.6	1	5	dbSNP_134	72	0,8600		0,0,4300	yes	missense	GALNT10	NM_198321.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	550/604	153795488	3,13003	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795488G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1649G>A	5.37:g.153795488G>A	ENSP00000297107:p.Arg550His					GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	p.R550H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1786	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	550			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1649G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056003	0.76074	6.81E-4	0.0	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27720	1.65;1.65;1.65	5.6	5.6	0.85130	Ricin B-related lectin (1);Ricin B lectin (3);	0.168500	0.52532	D	0.000071	T	0.53061	0.1773	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.69078	0.997;0.961;0.957	D;B;B	0.66847	0.947;0.287;0.263	T	0.47598	-0.9105	10	0.48119	T	0.1	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	488;221;550	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	H	550;488;223	ENSP00000297107:R550H;ENSP00000366889:R488H;ENSP00000366885:R223H	ENSP00000297107:R550H	R	+	2	0	GALNT10	153775681	1.000000	0.71417	0.961000	0.40146	0.889000	0.51656	7.375000	0.79646	2.627000	0.88993	0.655000	0.94253	CGC		0.507	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		15	354	0	0	0	1	0	15	354					A	153795488	G	A	153795488	3	1	79	1	0	0	0	0	1	0	0	0	6236	1087	38	1	1691	1	GALNT10	5	153795488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86348	153795488	27119772	6777	17094											
LARP1	23367	broad.mit.edu	37	chr5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagcctcagcctacccGtaaactgccacccaagaagg	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(361-363)cGt>cAt		La ribonucleoprotein domain family, member 1							195	183	187					5																	154172210		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154172210G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.362G>A	5.37:g.154172210G>A	ENSP00000336721:p.Arg121His						p.R121H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	386	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	198					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.362G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629404	0.87660	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.44083	1.87;0.93	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.54287	0.1849	L	0.41492	1.28	0.44956	D	0.997972	D;D	0.76494	0.997;0.999	P;D	0.66716	0.607;0.946	T	0.55921	-0.8064	10	0.54805	T	0.06	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	121;198	ENSP00000336721:R121H;ENSP00000428589:R198H	ENSP00000336721:R121H	R	+	2	0	LARP1	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT		0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		133	603	0	0	0	1	0	133	603					A	154172210	G	A	154172210	3	1	79	1	0	0	0	0	1	0	0	0	8659	1145	40	1	376	1	LARP1	5	154172210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376722	154172210	26743050	6778	17095											
LARP1	23367	broad.mit.edu	37	chr5	154174798	154174798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaggaaaatggatgcTgatggtttcctacccatcac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	432					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATGGATGCTGATGGTTTCC	0.478																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1063-1065)gcT>gcC		La ribonucleoprotein domain family, member 1							187	155	166					5																	154174798		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154174798T>C	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1065T>C	5.37:g.154174798T>C							p.A355A	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		8	1089	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	432					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1065T>C	CCDS4328.1																																																																																				0.478	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		86	275	0	0	0	1	0	86	275					C	154174798	T	C	154174798	2	2	79	1	0	0	0	0	0	0	0	1	8659	1567	55	4		4	LARP1	5	154174798	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	154174798	26740462	6779	17096											
LARP1	23367	broad.mit.edu	37	chr5	154179551	154179551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcctgacctggattctgaGaactggattgaagtgaagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	555	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582																																						ENST00000336314.4																			1	Substitution - Missense(1)	p.E555D(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1432-1434)gaG>gaA		La ribonucleoprotein domain family, member 1							64	60	61					5																	154179551		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179551G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1434G>A	5.37:g.154179551G>A							p.E478E	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		10	1458	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	555			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1434G>A	CCDS4328.1																																																																																				0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		56	220	0	0	0	1	0	56	220					A	154179551	G	A	154179551	2	1	79	1	0	0	0	0	0	0	0	1	8659	933	33	2		2	LARP1	5	154179551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4753	154179551	26735709	6780	17097											
KIF4B	285643	broad.mit.edu	37	chr5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgataaatccttcacctacGattttgtgtttgacccctgt	6	11	1	2	rs541398809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18375	0.001		0.0	False		,,,				2504	0.0					ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(154-156)Gat>Aat		kinesin family member 4B							106	104	105					5																	154393573		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393573G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.154G>A	5.37:g.154393573G>A	ENSP00000387875:p.Asp52Asn						p.D52N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	314	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	52			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.154G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.776280	0.49786	.	.	ENSG00000226650	ENST00000435029	D	0.82619	-1.63	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.86598	0.5971	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	P	0.61003	0.882	D	0.85022	0.0912	9	0.46703	T	0.11	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	52	Q2VIQ3	KIF4B_HUMAN	N	52	ENSP00000387875:D52N	ENSP00000387875:D52N	D	+	1	0	KIF4B	154373766	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	6.342000	0.72982	1.138000	0.42230	0.563000	0.77884	GAT		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			53	251	0	0	0	1	0	53	251					A	154393573	G	A	154393573	3	1	79	1	0	0	0	0	1	0	0	0	8334	1058	37	1	156	1	KIF4B	5	154393573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214022	154393573	26521687	6781	17098											
KIF4B	285643	broad.mit.edu	37	chr5	154393593	154393593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtgtttgacccctgTactgagcaggaagaagtctt	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACCCCTGTACTGAGCAGG	0.502																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(172-174)tgT>tgC		kinesin family member 4B							99	98	99					5																	154393593		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393593T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.174T>C	5.37:g.154393593T>C							p.C58C	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	334	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	58			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.174T>C	CCDS47324.1																																																																																				0.502	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			60	278	0	0	0	1	0	60	278					C	154393593	T	C	154393593	2	2	79	1	0	0	0	0	0	0	0	1	8334	1644	57	4		4	KIF4B	5	154393593	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20	154393593	26521667	6782	17099											
KIF4B	285643	broad.mit.edu	37	chr5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagtttagacaatggAagcagaaaaaagacaaagaa	10	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	665	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACAATGGAAGCAGAAAAA	0.398																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1993-1995)Aag>Gag		kinesin family member 4B							144	146	145					5																	154395412		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395412A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1993A>G	5.37:g.154395412A>G	ENSP00000387875:p.Lys665Glu						p.K665E	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2153	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	665			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.1993A>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	16.29	3.082917	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.10860	2.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.24812	0.0602	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09574	-1.0668	9	0.16420	T	0.52	.	8.5427	0.33402	1.0:0.0:0.0:0.0	.	665	Q2VIQ3	KIF4B_HUMAN	E	665	ENSP00000387875:K665E	ENSP00000387875:K665E	K	+	1	0	KIF4B	154375605	1.000000	0.71417	0.979000	0.43373	0.824000	0.46624	5.781000	0.68964	0.939000	0.37446	0.460000	0.39030	AAG		0.398	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			112	523	0	0	0	1	0	112	523					G	154395412	A	G	154395412	3	3	79	1	0	0	0	0	1	0	0	0	8334	247	9	4	1995	4	KIF4B	5	154395412	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1819	154395412	26519848	6783	17100											
KIF4B	285643	broad.mit.edu	37	chr5	154395477	154395477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaagaggcaatatgagctGctcaaacttgaaagaaactt	9	7	1	4	rs371063141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	686	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATATGAGCTGCTCAAACTTG	0.428																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2056-2058)ctG>ctA		kinesin family member 4B							119	122	121					5																	154395477		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395477G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2058G>A	5.37:g.154395477G>A							p.L686L	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2218	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	686			Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.2058G>A	CCDS47324.1																																																																																				0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			132	476	0	0	0	1	0	132	476					A	154395477	G	A	154395477	2	1	79	1	0	0	0	0	0	0	0	1	8334	1306	46	2		2	KIF4B	5	154395477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	154395477	26519783	6784	17101											
TIMD4	91937	broad.mit.edu	37	chr5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcactttcactggggTttaagatggtcaaggagaca	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	101	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(301-303)aAc>aCc		T-cell immunoglobulin and mucin domain containing 4							105	93	97					5																	156381524		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381524T>G	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.302A>C	5.37:g.156381524T>G	ENSP00000274532:p.Asn101Thr					TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	358	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	101			Ig-like V-type.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.302A>C	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415032	0.62511	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03717	3.83;3.83	5.54	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415179	0.23091	N	0.052024	T	0.13841	0.0335	M	0.87097	2.86	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.52627	0.704;0.704	T	0.07290	-1.0780	10	0.66056	D	0.02	-12.6664	10.9502	0.47325	0.0:0.074:0.0:0.926	.	101;101	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	101	ENSP00000274532:N101T;ENSP00000385973:N101T	ENSP00000274532:N101T	N	-	2	0	TIMD4	156314102	0.201000	0.23410	0.019000	0.16419	0.012000	0.07955	3.545000	0.53648	0.935000	0.37341	0.533000	0.62120	AAC		0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		60	263	0	0	0	1	0	60	263					G	156381524	T	G	156381524	3	3	79	1	0	0	0	0	1	0	0	0	15955	1725	60	4	866	4	TIMD4	5	156381524	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1986047	156381524	24533736	6785	17102											
FAM71B	153745	broad.mit.edu	37	chr5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttaaatggatttggTttcaaagacgatcatctccg	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	602						nucleus (GO:0005634)				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)			ATGGATTTGGTTTCAAAGACG	0.498																																						ENST00000302938.4																			0				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						c.(1804-1806)Acc>Ccc		family with sequence similarity 71, member B							147	151	149					5																	156589472		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589472T>G		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.1804A>C	5.37:g.156589472T>G	ENSP00000305596:p.Thr602Pro						p.T602P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1899	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	602					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1804A>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958315	0.53400	.	.	ENSG00000170613	ENST00000302938	T	0.04454	3.62	4.13	-3.73	0.04398	.	0.794005	0.10676	N	0.646996	T	0.05273	0.0140	L	0.53249	1.67	0.30561	N	0.764537	D	0.54964	0.969	B	0.44315	0.446	T	0.20240	-1.0281	10	0.62326	D	0.03	-3.6571	3.6906	0.08344	0.2992:0.2022:0.0:0.4986	.	602	Q8TC56	FA71B_HUMAN	P	602	ENSP00000305596:T602P	ENSP00000305596:T602P	T	-	1	0	FAM71B	156522050	0.090000	0.21635	0.945000	0.38365	0.514000	0.34195	-1.679000	0.01940	-0.765000	0.04645	0.533000	0.62120	ACC		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		95	868	0	0	0	1	0	95	868					G	156589472	T	G	156589472	3	3	79	1	0	0	0	0	1	0	0	0	5633	1725	60	4	17	4	FAM71B	5	156589472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	207948	156589472	24325788	6786	17103											
FAM71B	153745	broad.mit.edu	37	chr5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccatctcgttcactcAtgtagccttcgctttgcaag	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus (GO:0005634)				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)			TCGTTCACTCATGTAGCCTTC	0.502																																						ENST00000302938.4																			0				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						c.(1222-1224)aTg>aCg		family with sequence similarity 71, member B							87	90	89					5																	156590053		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590053A>G		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.1223T>C	5.37:g.156590053A>G	ENSP00000305596:p.Met408Thr						p.M408T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1318	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	408					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1223T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605410	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.16514	0.0397	M	0.72118	2.19	0.34314	D	0.685761	B	0.26744	0.158	B	0.17433	0.018	T	0.12915	-1.0529	10	0.09590	T	0.72	-25.7394	10.3394	0.43868	1.0:0.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	T	408	ENSP00000305596:M408T	ENSP00000305596:M408T	M	-	2	0	FAM71B	156522631	1.000000	0.71417	0.578000	0.28575	0.030000	0.12068	3.902000	0.56310	1.853000	0.53794	0.459000	0.35465	ATG		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		86	373	0	0	0	1	0	86	373					G	156590053	A	G	156590053	3	3	79	1	0	0	0	0	1	0	0	0	5633	217	8	4	598	4	FAM71B	5	156590053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	581	156590053	24325207	6787	17104											
FAM71B	153745	broad.mit.edu	37	chr5	156592605	156592605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcttcgggtggtgcgTccccagatagaagtgttggg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156592605T>C	ENST00000302938.4	-	1	670	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	192						nucleus (GO:0005634)				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)			GGGTGGTGCGTCCCCAGATAG	0.507																																						ENST00000302938.4																			0				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						c.(574-576)gAc>gGc		family with sequence similarity 71, member B							200	201	200					5																	156592605		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592605T>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.575A>G	5.37:g.156592605T>C	ENSP00000305596:p.Asp192Gly						p.D192G	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	670	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	192					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.575A>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553600	0.45487	.	.	ENSG00000170613	ENST00000302938	T	0.05925	3.37	3.8	2.65	0.31530	.	0.259848	0.26627	N	0.023337	T	0.13457	0.0326	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	P	0.61132	0.884	T	0.03619	-1.1019	10	0.72032	D	0.01	-13.3671	5.9023	0.18974	0.0:0.1177:0.0:0.8823	.	192	Q8TC56	FA71B_HUMAN	G	192	ENSP00000305596:D192G	ENSP00000305596:D192G	D	-	2	0	FAM71B	156525183	0.079000	0.21365	0.012000	0.15200	0.001000	0.01503	1.881000	0.39638	0.828000	0.34709	-0.250000	0.11733	GAC		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		19	1347	0	0	0	1	0	19	1347					C	156592605	T	C	156592605	3	2	79	1	0	0	0	0	1	0	0	0	5633	1667	58	4	1250	4	FAM71B	5	156592605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2552	156592605	24322655	6788	17105											
ITK	3702	broad.mit.edu	37	chr5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctccccacagaagaAgcgcacgctgaaggggtcca	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCACAGAAGAAGCGCACGCTG	0.433			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(142-144)aAg>aCg		IL2-inducible T-cell kinase							87	81	83					5																	156635904		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156635904A>C	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.143A>C	5.37:g.156635904A>C	ENSP00000398655:p.Lys48Thr					CTB-4E7.1_ENST00000519375.1_RNA	p.K48T	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	295	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	48			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.143A>C	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627245	0.66901	.	.	ENSG00000113263	ENST00000422843	D	0.93488	-3.23	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.71206	2.165	0.51767	D	0.999931	D	0.69078	0.997	D	0.63793	0.918	D	0.95208	0.8323	10	0.72032	D	0.01	.	9.629	0.39768	0.844:0.0:0.0:0.156	.	48	Q08881	ITK_HUMAN	T	48	ENSP00000398655:K48T	ENSP00000398655:K48T	K	+	2	0	ITK	156568482	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.514000	0.67043	1.989000	0.58080	0.459000	0.35465	AAG		0.433	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			21	127	0	0	0	1	0	21	127					C	156635904	A	C	156635904	3	2	79	1	0	0	0	0	1	0	0	0	7939	72	3	4	149	4	ITK	5	156635904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43299	156635904	24279356	6789	17106											
CYFIP2	26999	broad.mit.edu	37	chr5	156741989	156741989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagtactcttggaagCtggttcatcccacagacaag	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156741989C>A	ENST00000521420.1	+	12	1256	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	CYFIP2_ENST00000347377.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTGGAAGCTGGTTCATCC	0.468																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1243-1245)Ctg>Atg		cytoplasmic FMR1 interacting protein 2							51	51	51					5																	156741989		1996	4167	6163	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741989C>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1165C>A	5.37:g.156741989C>A	ENSP00000430904:p.Leu389Met					CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L389M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M	p.L415M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		13	1674	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	415						Missense_Mutation	SNP	ENST00000521420.1	37	c.1243C>A		.	.	.	.	.	.	.	.	.	.	C	24.7	4.558899	0.86231	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.91	D;D;D;D;D;D	0.85130	0.986;0.992;0.997;0.995;0.991;0.976	T	0.67337	-0.5696	10	0.62326	D	0.03	-15.5213	19.3628	0.94448	0.0:1.0:0.0:0.0	.	279;219;389;415;415;415	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	415;219;389;415;415;340;89	ENSP00000325817:L415M;ENSP00000428009:L219M;ENSP00000430904:L389M;ENSP00000313567:L415M;ENSP00000366799:L415M;ENSP00000444645:L340M;ENSP00000403793:L89M	ENSP00000325817:L415M	L	+	1	2	CYFIP2	156674567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.276000	0.51646	2.579000	0.87056	0.561000	0.74099	CTG		0.468	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		8	34	1	0	0.0381472	1	0.0382505	8	34					A	156741989	C	A	156741989	3	1	79	1	0	0	0	0	1	0	0	0	4149	796	28	3	1289	3	CYFIP2	5	156741989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106085	156741989	24173271	6790	17107											
CYFIP2	26999	broad.mit.edu	37	chr5	156746841	156746841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttcaaccaggccatcagGaacaccatctacgcggcatt	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000521420.1	+	13	1441	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000377576.3_Silent_p.R476R					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1426-1428)agG>agA		cytoplasmic FMR1 interacting protein 2							131	133	132					5																	156746841		2203	4300	6503	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746841G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1350G>A	5.37:g.156746841G>A						CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000541131.1_Silent_p.R401R	p.R476R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1859	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	476						Silent	SNP	ENST00000521420.1	37	c.1428G>A																																																																																					0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		30	535	0	0	0	1	0	30	535					A	156746841	G	A	156746841	2	1	79	1	0	0	0	0	0	0	0	1	4149	1165	41	2		2	CYFIP2	5	156746841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4852	156746841	24168419	6791	17108											
CYFIP2	26999	broad.mit.edu	37	chr5	156746871	156746871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgcggcattgcaggacttCgcccaggtgacgctgcgtga	14	12	0	2	rs563909737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000521420.1	+	13	1471	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000377576.3_Silent_p.F486F					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGGACTTCGCCCAGGTGA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		23881	0.001		0.0	False		,,,				2504	0.0					ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1456-1458)ttC>ttT		cytoplasmic FMR1 interacting protein 2							144	148	147					5																	156746871		2203	4300	6503	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746871C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1380C>T	5.37:g.156746871C>T						CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000521420.1_Silent_p.F460F|CYFIP2_ENST00000541131.1_Silent_p.F411F	p.F486F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1889	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	486						Silent	SNP	ENST00000521420.1	37	c.1458C>T																																																																																					0.572	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		122	611	0	0	0	1	0	122	611					T	156746871	C	T	156746871	2	4	79	1	0	0	0	0	0	0	0	1	4149	883	31	1		1	CYFIP2	5	156746871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	156746871	24168389	6792	17109											
CYFIP2	26999	broad.mit.edu	37	chr5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcgtcctacaggcaattCgaaagaccatctgtgactgg	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1540-1542)Cga>Tga		cytoplasmic FMR1 interacting protein 2							59	60	60					5																	156747679		1962	4140	6102	SO:0001587	stop_gained	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156747679C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1462C>T	5.37:g.156747679C>T	ENSP00000430904:p.Arg488*					CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R488*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*	p.R514*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		15	1971	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	514						Nonsense_Mutation	SNP	ENST00000521420.1	37	c.1540C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA		0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		36	163	0	0	0	1	0	36	163					T	156747679	C	T	156747679	4	4	79	1	0	0	0	0	0	1	0	0	4149	876	31	1	1594	1	CYFIP2	5	156747679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	156747679	24167581	6793	17110											
C5orf40	408263	broad.mit.edu	37	chr5	156770491	156770491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcagggctccgaggaCgaccaggagatgatggctcc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156770491C>T	ENST00000312349.4	-	2	241	c.54G>A	c.(52-54)tcG>tcA	p.S18S	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCGAGGACGACCAGGAGA	0.502																																						ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(52-54)tcG>tcA		fibronectin type III domain containing 9							67	67	67					5																	156770491		2203	4300	6503	SO:0001819	synonymous_variant	408263					integral to membrane		g.chr5:156770491C>T	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.54G>A	5.37:g.156770491C>T						CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron	p.S18S	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	241	-			18			Fibronectin type-III.		A8K0Y6	Silent	SNP	ENST00000312349.4	37	c.54G>A	CCDS4337.1																																																																																				0.502	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		46	202	0	0	0	1	0	46	202					T	156770491	C	T	156770491	2	4	79	1	0	0	0	0	0	0	0	1	2306	523	19	1		1	C5orf40	5	156770491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22812	156770491	24144769	6794	17111											
NIPAL4	348938	broad.mit.edu	37	chr5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcttgcgactcgtggCcacgggagccactcgagctg	14	14	1	0	rs201443898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	148						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.0					ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(442-444)gCc>gAc		NIPA-like domain containing 4		C	ASP/ALA,ASP/ALA	6,3900		0,6,1947	20	24	23		443,443	2.9	0.8	5		23	0,8304		0,0,4152	yes	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	126,126	0,6,6099	AA,AC,CC		0.0,0.1536,0.0491	benign,benign	148/467,148/448	156890321	6,12204	1953	4152	6105	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890321C>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.443C>A	5.37:g.156890321C>A	ENSP00000311687:p.Ala148Asp					NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	p.A148D	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			2	559	+			148					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.443C>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255790	0.05829	0.001536	0.0	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90563	-0.52;-2.69	4.92	2.87	0.33458	.	0.690165	0.15240	N	0.272921	D	0.83248	0.5213	L	0.28694	0.88	0.22728	N	0.998805	B;B	0.16166	0.013;0.016	B;B	0.12156	0.007;0.007	T	0.68443	-0.5407	10	0.22109	T	0.4	-6.1498	10.8222	0.46612	0.1923:0.7013:0.1064:0.0	.	148;148	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	148	ENSP00000406456:A148D;ENSP00000311687:A148D	ENSP00000311687:A148D	A	+	2	0	NIPAL4	156822899	0.999000	0.42202	0.758000	0.31321	0.164000	0.22412	0.741000	0.26202	1.032000	0.39892	0.561000	0.74099	GCC		0.597	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		33	204	1	0	3.11337e-16	1	3.41587e-16	33	204					A	156890321	C	A	156890321	3	1	79	1	0	0	0	0	1	0	0	0	10469	739	26	3	449	3	NIPAL4	5	156890321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119830	156890321	24024939	6795	17112											
ADAM19	8728	broad.mit.edu	37	chr5	156908832	156908832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagaggccgggactgCtgagggccagcaccaggggg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	ENST00000517905.1	-	22	2714	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_ENST00000257527.4_Missense_Mutation_p.Q890H|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000430702.2_Intron			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	890					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGGGACTGCTGAGGGCCAG	0.687																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2668-2670)caG>caT		ADAM metallopeptidase domain 19							13	14	14					5																	156908832		2196	4295	6491	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156908832C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2670G>T	5.37:g.156908832C>A	ENSP00000428654:p.Gln890His					ADAM19_ENST00000517905.1_Missense_Mutation_p.Q890H|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H	p.Q890H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		22	2748	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	890					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2670G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.939|8.939	0.965465|0.965465	0.18583|0.18583	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01538|.	4.8;4.82;4.79|.	5.51|5.51	0.583|0.583	0.17417|0.17417	.|.	0.734758|.	0.12449|.	N|.	0.467961|.	T|T	0.23171|0.23171	0.0560|0.0560	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28512|.	0.115;0.214|.	B;B|.	0.35688|.	0.208;0.135|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.38643|.	T|.	0.18|.	.|.	3.4723|3.4723	0.07571|0.07571	0.2793:0.3996:0.0:0.321|0.2793:0.3996:0.0:0.321	.|.	890;890|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	H|I	890;892;890|461	ENSP00000257527:Q890H;ENSP00000377588:Q892H;ENSP00000428654:Q890H|.	ENSP00000257527:Q890H|.	Q|S	-|-	3|2	2|0	ADAM19|ADAM19	156841410|156841410	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.150000|-0.150000	0.10189|0.10189	-0.189000|-0.189000	0.10482|0.10482	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.687	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		13	39	1	0	2.27111e-07	1	2.35674e-07	13	39					A	156908832	C	A	156908832	3	1	79	1	0	0	0	0	1	0	0	0	240	796	28	3	94	3	ADAM19	5	156908832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18511	156908832	24006428	6796	17113											
ADAM19	8728	broad.mit.edu	37	chr5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctaaataatcagccaCgaggtaaagctccacatact	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000517905.1	-	7	693	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000257527.4_Missense_Mutation_p.V217M|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	217	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(649-651)Gtg>Atg		ADAM metallopeptidase domain 19							179	177	178					5																	156945848		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156945848C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.649G>A	5.37:g.156945848C>T	ENSP00000428654:p.Val217Met					ADAM19_ENST00000517905.1_Missense_Mutation_p.V217M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M	p.V217M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	727	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	217			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.649G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478870	0.84747	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.74315	-0.83;-0.83;-0.83	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	D	0.92315	0.7562	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95271	0.8377	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	217	Q9H013-2	.	M	217;219;217	ENSP00000257527:V217M;ENSP00000377588:V219M;ENSP00000428654:V217M	ENSP00000257527:V217M	V	-	1	0	ADAM19	156878426	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GTG		0.443	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		200	824	0	0	0	1	0	200	824					T	156945848	C	T	156945848	3	4	79	1	0	0	0	0	1	0	0	0	240	536	19	1	2175	1	ADAM19	5	156945848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37016	156945848	23969412	6797	17114											
SOX30	11063	broad.mit.edu	37	chr5	157065339	157065339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggccaaggggagggggCtggtagacatgtgggtgtgg	23	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q288Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	593	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGGGGCTGGTAGACAT	0.557																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1777-1779)caG>caA		SRY (sex determining region Y)-box 30							71	70	70					5																	157065339		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065339C>T	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1779G>A	5.37:g.157065339C>T						SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q288Q	p.Q593Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	2120	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	593			Pro-rich.		O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.1779G>A	CCDS4339.1																																																																																				0.557	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		36	219	0	0	0	1	0	36	219					T	157065339	C	T	157065339	2	4	79	1	0	0	0	0	0	0	0	1	15002	796	28	2		2	SOX30	5	157065339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119491	157065339	23849921	6798	17115											
SOX30	11063	broad.mit.edu	37	chr5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaattaccacagagtAcgtaggtgagcggtaaggat	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H|SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	447					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCACAGAGTACGTAGGTGAG	0.368																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1339-1341)Tac>Cac		SRY (sex determining region Y)-box 30							162	153	156					5																	157073693		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157073693A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1339T>C	5.37:g.157073693A>G	ENSP00000265007:p.Tyr447His					SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H|SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H	p.Y447H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1680	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	447					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1339T>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777591	0.70107	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98249	-4.82;-4.33;-4.61	5.24	5.24	0.73138	.	0.107024	0.42172	D	0.000754	D	0.97411	0.9153	N	0.24115	0.695	0.33154	D	0.546052	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63597	0.916;0.904;0.804	D	0.99901	1.1161	10	0.54805	T	0.06	.	14.0019	0.64437	1.0:0.0:0.0:0.0	.	142;447;447	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	H	447;447;142	ENSP00000309343:Y447H;ENSP00000265007:Y447H;ENSP00000427984:Y142H	ENSP00000265007:Y447H	Y	-	1	0	SOX30	157006271	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.993000	0.70616	2.111000	0.64477	0.528000	0.53228	TAC		0.368	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		107	452	0	0	0	1	0	107	452					G	157073693	A	G	157073693	3	3	79	1	0	0	0	0	1	0	0	0	15002	391	14	4	934	4	SOX30	5	157073693	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8354	157073693	23841567	6799	17116											
THG1L	54974	broad.mit.edu	37	chr5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggactacctcagctggCgacaagcagattgtgagtgg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	176					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCAGCTGGCGACAAGCAGA	0.468																																						ENST00000231198.7																			0				NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13						c.(526-528)Cga>Tga		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							90	79	83					5																	157161741		2203	4300	6503	SO:0001587	stop_gained	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157161741C>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"interphase cytoplasmic foci protein 45"					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.526C>T	5.37:g.157161741C>T	ENSP00000231198:p.Arg176*						p.R176*	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	770	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	176					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Nonsense_Mutation	SNP	ENST00000231198.7	37	c.526C>T	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280306	0.98182	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.95	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.3795	14.6076	0.68493	0.5054:0.4946:0.0:0.0	.	.	.	.	X	176;51	.	ENSP00000231198:R176X	R	+	1	2	THG1L	157094319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	0.799000	0.34018	0.650000	0.86243	CGA		0.468	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		52	243	0	0	0	1	0	52	243					T	157161741	C	T	157161741	4	4	79	1	0	0	0	0	0	1	0	0	15913	760	27	1	536	1	THG1L	5	157161741	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	157161741	23753519	6800	17117											
LSM11	134353	broad.mit.edu	37	chr5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttcacatccgcacttTcaagggacttcggggcgtct	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	176	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGCACTTTCAAGGGACTT	0.512																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(526-528)tTc>tGc		LSM11, U7 small nuclear RNA associated							139	132	134					5																	157178476		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157178476T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.527T>G	5.37:g.157178476T>G	ENSP00000286307:p.Phe176Cys						p.F176C	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	583	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	176			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.527T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796430	0.90453	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.141008	0.64402	D	0.000006	T	0.61464	0.2349	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63102	-0.6712	10	0.72032	D	0.01	-16.7964	16.5764	0.84681	0.0:0.0:0.0:1.0	.	176	P83369	LSM11_HUMAN	C	176	ENSP00000286307:F176C	ENSP00000286307:F176C	F	+	2	0	LSM11	157111054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TTC		0.512	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		104	467	0	0	0	1	0	104	467					G	157178476	T	G	157178476	3	3	79	1	0	0	0	0	1	0	0	0	9090	1783	62	4	533	4	LSM11	5	157178476	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16735	157178476	23736784	6801	17118											
EBF1	1879	broad.mit.edu	37	chr5	158223401	158223401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacctgtaacccatcaaaGaaattgtcccctatgatgat	6	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F279F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	287	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(859-861)ttC>ttT		early B-cell factor 1							155	126	136					5																	158223401		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223401G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.861C>T	5.37:g.158223401G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000380654.4_Silent_p.F256F	p.F287F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1143	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	287			IPT/TIG.		Q8IW11	Silent	SNP	ENST00000313708.6	37	c.861C>T	CCDS4343.1																																																																																				0.453	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		80	306	0	0	0	1	0	80	306					A	158223401	G	A	158223401	2	1	79	1	0	0	0	0	0	0	0	1	4896	933	33	2		2	EBF1	5	158223401	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044925	158223401	22691859	6802	17119											
EBF1	1879	broad.mit.edu	37	chr5	158526367	158526367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctctgcgccgccgtGttggcgtccagcaccccggc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158526367G>A	ENST00000313708.6	-	1	402	c.120C>T	c.(118-120)aaC>aaT	p.N40N	EBF1_ENST00000380654.4_Silent_p.N40N|EBF1_ENST00000518836.1_5'UTR|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000517373.1_Silent_p.N40N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	40					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGCCGCCGTGTTGGCGTCCA	0.731			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(118-120)aaC>aaT		early B-cell factor 1							47	56	53					5																	158526367		2201	4296	6497	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158526367G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.120C>T	5.37:g.158526367G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000380654.4_Silent_p.N40N	p.N40N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	402	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	40					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.120C>T	CCDS4343.1																																																																																				0.731	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		16	647	0	0	0	1	0	16	647					A	158526367	G	A	158526367	2	1	79	1	0	0	0	0	0	0	0	1	4896	1368	48	2		2	EBF1	5	158526367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302966	158526367	22388893	6803	17120											
UBLCP1	134510	broad.mit.edu	37	chr5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttctcaagacccttacaGgagttcttccagaacgccaa	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(109-111)Gga>Tga		ubiquitin-like domain containing CTD phosphatase 1							102	97	98					5																	158696032		2203	4300	6503	SO:0001587	stop_gained	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696032G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.109G>T	5.37:g.158696032G>T	ENSP00000296786:p.Gly37*						p.G37*	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	435	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	37			Ubiquitin-like.		D3DQJ7|Q96DK5	Nonsense_Mutation	SNP	ENST00000296786.6	37	c.109G>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	40	8.445000	0.98815	.	.	ENSG00000164332	ENST00000296786	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-13.2913	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000296786:G37X	G	+	1	0	UBLCP1	158628610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	GGA		0.383	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		85	366	1	0	5.52034e-35	1	6.58082e-35	85	366					T	158696032	G	T	158696032	4	4	79	1	0	0	0	0	0	1	0	0	16945	1001	35	3	111	3	UBLCP1	5	158696032	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169665	158696032	22219228	6804	17121											
UBLCP1	134510	broad.mit.edu	37	chr5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatatctctcaaagaaGcaaggacagtagttacaagt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	315						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(943-945)aaG>aaT		ubiquitin-like domain containing CTD phosphatase 1							139	142	141					5																	158711927		2203	4298	6501	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158711927G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.945G>T	5.37:g.158711927G>T	ENSP00000296786:p.Lys315Asn						p.K315N	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1271	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	315					D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.945G>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046228	0.36085	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	.	0.150396	0.64402	N	0.000012	T	0.45617	0.1351	L	0.31752	0.955	0.51233	D	0.999913	B	0.20780	0.048	B	0.24006	0.05	T	0.35724	-0.9777	9	0.36615	T	0.2	-15.6052	11.6009	0.51001	0.1425:0.0:0.8575:0.0	.	315	Q8WVY7	UBCP1_HUMAN	N	315	.	ENSP00000296786:K315N	K	+	3	2	UBLCP1	158644505	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.544000	0.53640	1.493000	0.48517	0.643000	0.83706	AAG		0.338	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		38	265	1	0	9.45814e-24	1	1.07742e-23	38	265					T	158711927	G	T	158711927	3	4	79	1	0	0	0	0	1	0	0	0	16945	962	34	3	983	3	UBLCP1	5	158711927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15895	158711927	22203333	6805	17122											
IL12B	3593	broad.mit.edu	37	chr5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccatatggccacgagggGagatgccagaaaaaccaggg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	19					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGAGGGGAGATGCCAGA	0.507																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(55-57)Ccc>Tcc		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							90	94	93					5																	158753736		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753736G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.55C>T	5.37:g.158753736G>A	ENSP00000231228:p.Pro19Ser						p.P19S	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	510	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	19						Missense_Mutation	SNP	ENST00000231228.2	37	c.55C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153871	0.57259	.	.	ENSG00000113302	ENST00000231228	T	0.19806	2.12	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.304673	0.35903	N	0.002906	T	0.20820	0.0501	L	0.54323	1.7	0.36907	D	0.890685	B	0.22983	0.078	B	0.22880	0.042	T	0.09271	-1.0682	10	0.08837	T	0.75	-2.4995	15.5804	0.76432	0.0:0.0:1.0:0.0	.	19	P29460	IL12B_HUMAN	S	19	ENSP00000231228:P19S	ENSP00000231228:P19S	P	-	1	0	IL12B	158686314	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.293000	0.51779	2.832000	0.97577	0.655000	0.94253	CCC		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		46	271	0	0	0	1	0	46	271					A	158753736	G	A	158753736	3	1	79	1	0	0	0	0	1	0	0	0	7655	1174	41	2	955	2	IL12B	5	158753736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41809	158753736	22161524	6806	17123											
TTC1	7265	broad.mit.edu	37	chr5	159437762	159437762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaggaggagccaggagCggacaaggttgagaacaaat	15	5	0	2	rs41275307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159437762C>T	ENST00000231238.5	+	2	337	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TTC1_ENST00000522793.1_Missense_Mutation_p.A76V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	76					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGCCAGGAGCGGACAAGGTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20866	0.0		0.0	False		,,,				2504	0.001					ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(226-228)gCg>gTg		tetratricopeptide repeat domain 1		C	VAL/ALA	0,4406		0,0,2203	59	57	58		227	-5.9	0	5	dbSNP_127	58	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TTC1	NM_003314.1	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	76/293	159437762	4,13002	2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437762C>T	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.227C>T	5.37:g.159437762C>T	ENSP00000231238:p.Ala76Val					TTC1_ENST00000522793.1_Missense_Mutation_p.A76V	p.A76V	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	337	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	76					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.227C>T	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129412	0.06753	0.0	4.65E-4	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18338	2.22;2.22	5.09	-5.92	0.02261	.	1.368040	0.04409	N	0.365678	T	0.07863	0.0197	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.30078	T	0.28	-10.0995	1.5147	0.02503	0.2707:0.3727:0.1379:0.2188	rs41275307	76	Q99614	TTC1_HUMAN	V	76	ENSP00000231238:A76V;ENSP00000429225:A76V	ENSP00000231238:A76V	A	+	2	0	TTC1	159370340	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.420000	0.07062	-1.027000	0.03325	-0.378000	0.06908	GCG		0.453	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		5	140	0	0	0	1	0	5	140					T	159437762	C	T	159437762	3	4	79	1	0	0	0	0	1	0	0	0	16732	768	27	1	229	1	TTC1	5	159437762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684026	159437762	21477498	6807	17124											
PWWP2A	114825	broad.mit.edu	37	chr5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgaggcagcggcggctCctcgcgctcctcgggagccg	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000307063.7	-	1	428	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K|PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	132	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGCGGCTCCTCGCGCTCC	0.766																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(394-396)Gag>Aag		PWWP domain containing 2A							9	12	11					5																	159546002		1790	3937	5727	SO:0001583	missense	114825							g.chr5:159546002C>T		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.394G>A	5.37:g.159546002C>T	ENSP00000305151:p.Glu132Lys					PWWP2A_ENST00000307063.7_Missense_Mutation_p.E132K|PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K	p.E132K	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	428	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	132			Pro-rich.		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.394G>A	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480504	0.44044	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.59083	1.27;1.27;0.29	3.19	2.2	0.27929	.	0.183149	0.33057	N	0.005322	T	0.37758	0.1015	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.22146	0.039;0.065;0.065	B;B;B	0.19946	0.012;0.027;0.027	T	0.15464	-1.0436	10	0.21014	T	0.42	-3.0982	9.7697	0.40582	0.0:0.7876:0.2124:0.0	.	132;132;132	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	K	132	ENSP00000390462:E132K;ENSP00000428143:E132K;ENSP00000305151:E132K	ENSP00000305151:E132K	E	-	1	0	PWWP2A	159478580	0.003000	0.15002	0.996000	0.52242	0.832000	0.47134	0.110000	0.15437	1.782000	0.52362	0.556000	0.70494	GAG		0.766	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			11	120	0	0	0	1	0	11	120					T	159546002	C	T	159546002	3	4	79	1	0	0	0	0	1	0	0	0	12895	864	30	2	2023	2	PWWP2A	5	159546002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108240	159546002	21369258	6808	17125											
PWWP2A	114825	broad.mit.edu	37	chr5	159546030	159546030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgggagccgggggctgCtccggcggcgatgcaggaga	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000307063.7	-	1	400	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000456329.3_Silent_p.E122E|PWWP2A_ENST00000523662.1_Silent_p.E122E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	122	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGGCTGCTCCGGCGGCG	0.746																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(364-366)gaG>gaA		PWWP domain containing 2A							11	13	13					5																	159546030		1804	3926	5730	SO:0001819	synonymous_variant	114825							g.chr5:159546030C>T		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.366G>A	5.37:g.159546030C>T						PWWP2A_ENST00000307063.7_Silent_p.E122E|PWWP2A_ENST00000523662.1_Silent_p.E122E	p.E122E	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	400	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	122			Pro-rich.		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	37	c.366G>A	CCDS47332.1																																																																																				0.746	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			24	149	0	0	0	1	0	24	149					T	159546030	C	T	159546030	2	4	79	1	0	0	0	0	0	0	0	1	12895	796	28	2		2	PWWP2A	5	159546030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	159546030	21369230	6809	17126											
CCNJL	79616	broad.mit.edu	37	chr5	159707577	159707577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgtagagctgcttggAggtggtgacgttgtagcgat	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	ENST00000393977.3	-	3	520	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTGGAGGTGGTGACG	0.627																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(235-237)Tcc>Ccc		cyclin J-like							93	95	94					5																	159707577		2168	4245	6413	SO:0001583	missense	79616					nucleus		g.chr5:159707577A>G	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.235T>C	5.37:g.159707577A>G	ENSP00000377547:p.Ser79Pro					CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P	p.S79P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	520	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	79			Cyclin N-terminal.		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.235T>C	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459198	0.63401	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748;ENST00000505287	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.04	2.54	0.30619	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.42548	D	0.000699	T	0.28134	0.0694	L	0.55481	1.735	0.26272	N	0.978407	P;P;D	0.65815	0.899;0.943;0.995	P;P;P	0.60415	0.664;0.664;0.874	T	0.15896	-1.0421	10	0.66056	D	0.02	-19.0172	0.9414	0.01356	0.4356:0.2439:0.1795:0.141	.	79;79;79	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	P	79;79;79;78;114;124	ENSP00000377547:S79P;ENSP00000257536:S79P;ENSP00000427960:S79P;ENSP00000446367:S78P;ENSP00000428836:S114P;ENSP00000444778:S124P	ENSP00000257536:S79P	S	-	1	0	CCNJL	159640155	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.353000	0.34045	0.891000	0.36235	0.454000	0.30748	TCC		0.627	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		21	553	0	0	0	1	0	21	553					G	159707577	A	G	159707577	3	3	79	1	0	0	0	0	1	0	0	0	2938	304	11	4	1092	4	CCNJL	5	159707577	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	161547	159707577	21207683	6810	17127											
CCNJL	79616	broad.mit.edu	37	chr5	159738895	159738895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcagtggacgtccgaGgcgacgcgcccttcccacca	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	12						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(34-36)gcC>gcT		cyclin J-like							74	85	81					5																	159738895		2152	4246	6398	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159738895G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.36C>T	5.37:g.159738895G>A						CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000505287.2_Intron	p.A12A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	321	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	12					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.36C>T	CCDS4350.2																																																																																				0.652	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		74	396	0	0	0	1	0	74	396					A	159738895	G	A	159738895	2	1	79	1	0	0	0	0	0	0	0	1	2938	987	35	2		2	CCNJL	5	159738895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31318	159738895	21176365	6811	17128											
C5orf54	63920	broad.mit.edu	37	chr5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtaactacgatatgagGtatctcttttttcacgtagg	9	6	2	1	rs191961092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0					ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(790-792)Cct>Tct		chromosome 5 open reading frame 54							142	136	138					5																	159821708		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159821708G>A																												ENST00000408953.3:c.790C>T	5.37:g.159821708G>A	ENSP00000386184:p.Pro264Ser					C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	p.P264S	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	1297	-			264						Missense_Mutation	SNP	ENST00000408953.3	37	c.790C>T	CCDS34283.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.56	2.274400	0.40194	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.19394	2.15;2.15	2.84	2.84	0.33178	.	.	.	.	.	T	0.35278	0.0926	L	0.47190	1.495	0.31834	N	0.62442	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	9	0.44086	T	0.13	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	264	Q8IZ13	CE054_HUMAN	S	264	ENSP00000386184:P264S;ENSP00000428831:P264S	ENSP00000386184:P264S	P	-	1	0	C5orf54	159754286	0.987000	0.35691	0.974000	0.42286	0.746000	0.42486	3.072000	0.50049	1.916000	0.55485	0.655000	0.94253	CCT		0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			126	533	0	0	0	1	0	126	533					A	159821708	G	A	159821708	3	1	79	1	0	0	0	0	1	0	0	0	2317	1261	44	2	998	2	C5orf54	5	159821708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82813	159821708	21093552	6812	17129											
SLU7	10569	broad.mit.edu	37	chr5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagatcccttgtcatagGcttcccatgcaaacactaga	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	334					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(1000-1002)gCc>gTc		SLU7 splicing factor homolog (S. cerevisiae)							125	117	119					5																	159834607		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159834607G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1001C>T	5.37:g.159834607G>A	ENSP00000297151:p.Ala334Val						p.A334V	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1388	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	334					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.1001C>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646700	0.87958	.	.	ENSG00000164609	ENST00000297151	T	0.49432	0.78	6.17	3.44	0.39384	Pre-mRNA splicing Prp18-interacting factor (1);	0.329212	0.35739	N	0.003007	T	0.67059	0.2853	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67825	-0.5570	10	0.87932	D	0	-29.9888	9.9057	0.41375	0.1249:0.1156:0.7594:0.0	.	334	O95391	SLU7_HUMAN	V	334	ENSP00000297151:A334V	ENSP00000297151:A334V	A	-	2	0	SLU7	159767185	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.378000	0.97191	0.480000	0.27534	0.655000	0.94253	GCC		0.388	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		25	148	0	0	0	1	0	25	148					A	159834607	G	A	159834607	3	1	79	1	0	0	0	0	1	0	0	0	14805	1203	42	2	783	2	SLU7	5	159834607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12899	159834607	21080653	6813	17130											
SLU7	10569	broad.mit.edu	37	chr5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacttttgcaatatcttctCgaatcctgagattccggaca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	268					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(802-804)cGa>cAa		SLU7 splicing factor homolog (S. cerevisiae)							81	83	82					5																	159835352		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159835352C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.803G>A	5.37:g.159835352C>T	ENSP00000297151:p.Arg268Gln						p.R268Q	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1190	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	268					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.803G>A	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675574	0.96764	.	.	ENSG00000164609	ENST00000297151	T	0.72282	-0.64	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88867	0.3330	10	0.87932	D	0	-22.3357	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268	O95391	SLU7_HUMAN	Q	268	ENSP00000297151:R268Q	ENSP00000297151:R268Q	R	-	2	0	SLU7	159767930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	CGA		0.368	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		41	265	0	0	0	1	0	41	265					T	159835352	C	T	159835352	3	4	79	1	0	0	0	0	1	0	0	0	14805	884	31	1	993	1	SLU7	5	159835352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745	159835352	21079908	6814	17131											
ATP10B	23120	broad.mit.edu	37	chr5	160047706	160047706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccagactccaggatgtcGccctggtcccacatgctgct	10	16	0	1	rs373898412		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	688					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2062-2064)ggC>ggT		ATPase, class V, type 10B		G		0,4352		0,0,2176	50	52	51		2064	-10.7	0	5		51	1,8549		0,1,4274	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6450	AA,AG,GG		0.0117,0.0,0.0078		688/1462	160047706	1,12901	2176	4275	6451	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047706G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2064C>T	5.37:g.160047706G>A						CTC-348L5.1_ENST00000523598.1_RNA	p.G688G	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2910	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	688					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2064C>T	CCDS43394.1																																																																																				0.602	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		58	240	0	0	0	1	0	58	240					A	160047706	G	A	160047706	2	1	79	1	0	0	0	0	0	0	0	1	1118	1074	38	1		1	ATP10B	5	160047706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212354	160047706	20867554	6815	17132											
ATP10B	23120	broad.mit.edu	37	chr5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaggatgatcattgtgagGaacatgtagaagcccccaag	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	368					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1102-1104)ttC>ttA		ATPase, class V, type 10B							69	69	69					5																	160063213		1900	4119	6019	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063213G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1104C>A	5.37:g.160063213G>T	ENSP00000313600:p.Phe368Leu					CTC-348L5.1_ENST00000523598.1_RNA	p.F368L	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1950	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	368					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1104C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372293	0.82573	.	.	ENSG00000118322	ENST00000327245	D	0.87966	-2.32	5.18	0.379	0.16213	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.69185	2.1	0.58432	D	0.999991	D;P;D;D	0.89917	1.0;0.914;1.0;0.999	D;P;D;D	0.97110	1.0;0.868;0.999;0.996	D	0.87226	0.2257	9	.	.	.	.	8.8292	0.35074	0.485:0.0:0.515:0.0	.	412;368;340;368	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	L	368	ENSP00000313600:F368L	.	F	-	3	2	ATP10B	159995791	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.951000	0.40333	0.208000	0.20626	0.555000	0.69702	TTC		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		54	234	1	0	2.47907e-22	1	2.80423e-22	54	234					T	160063213	G	T	160063213	3	4	79	1	0	0	0	0	1	0	0	0	1118	1165	41	3	3345	3	ATP10B	5	160063213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15507	160063213	20852047	6816	17133											
GABRB2	2561	broad.mit.edu	37	chr5	160721349	160721349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcattgtgcttctgggGtctccaagtcccatcacagc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000393959.1	-	10	1277	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000520240.1_Silent_p.D388D			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	426					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	TGCTTCTGGGGTCTCCAAGTC	0.507																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1276-1278)gaC>gaT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						113	105	108					5																	160721349		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721349G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1278C>T	5.37:g.160721349G>A						GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000520240.1_Silent_p.D388D|GABRB2_ENST00000393959.1_Silent_p.D426D|GABRB2_ENST00000353437.6_Silent_p.D388D	p.D426D	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1495	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	426					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.1278C>T	CCDS4355.1																																																																																				0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			98	368	0	0	0	1	0	98	368					A	160721349	G	A	160721349	2	1	79	1	0	0	0	0	0	0	0	1	6194	1252	44	2		2	GABRB2	5	160721349	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	658136	160721349	20193911	6817	17134											
GABRB2	2561	broad.mit.edu	37	chr5	160757956	160757956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagctgctttcttttgGcgttggggccccctcccaaa	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000393959.1	-	8	1010	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000520240.1_Silent_p.R337R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	CTTTCTTTTGGCGTTGGGGCC	0.502																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1009-1011)cgC>cgT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						94	98	97					5																	160757956		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160757956G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1011C>T	5.37:g.160757956G>A						GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000520240.1_Silent_p.R337R|GABRB2_ENST00000393959.1_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R	p.R337R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1228	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	337					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.1011C>T	CCDS4355.1																																																																																				0.502	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			119	537	0	0	0	1	0	119	537					A	160757956	G	A	160757956	2	1	79	1	0	0	0	0	0	0	0	1	6194	1190	42	2		2	GABRB2	5	160757956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36607	160757956	20157304	6818	17135											
HMMR	3161	broad.mit.edu	37	chr5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttccgcagaatctaaacAaaatcttaatgttgacaaag	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000358715.3	+	3	191	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Missense_Mutation_p.Q52L|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAATCTAAACAAAATCTTAAT	0.343																																						ENST00000393915.4																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(154-156)cAa>cTa		hyaluronan-mediated motility receptor (RHAMM)							113	112	113					5																	162891738		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162891738A>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.155A>T	5.37:g.162891738A>T	ENSP00000351554:p.Gln52Leu					HMMR_ENST00000432118.2_Intron|HMMR_ENST00000358715.3_Missense_Mutation_p.Q52L|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000416990.2_5'UTR	p.Q52L	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	3	298	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	52					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.155A>T	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756322	0.31137	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	T;T;T	0.09163	3.01;3.04;3.04	5.0	3.82	0.43975	.	0.570850	0.18749	N	0.132230	T	0.13157	0.0319	N	0.24115	0.695	0.30261	N	0.793177	P;P;P	0.52692	0.955;0.902;0.902	P;B;P	0.53861	0.736;0.442;0.523	T	0.03077	-1.1075	10	0.59425	D	0.04	-14.182	9.073	0.36504	0.8144:0.1856:0.0:0.0	.	52;52;52	O75330-3;O75330-2;O75330	.;.;HMMR_HUMAN	L	52	ENSP00000185942:Q52L;ENSP00000377492:Q52L;ENSP00000351554:Q52L	ENSP00000185942:Q52L	Q	+	2	0	HMMR	162824316	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.570000	0.45981	0.848000	0.35191	-0.316000	0.08728	CAA		0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		57	205	0	0	0	1	0	57	205					T	162891738	A	T	162891738	3	4	79	1	0	0	0	0	1	0	0	0	7272	130	5	5	165	5	HMMR	5	162891738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2133782	162891738	18023522	6819	17136											
ODZ2	57451	broad.mit.edu	37	chr5	167645592	167645592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcagaccttggaaatattCggatcagggcggtcagcaag	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167645592C>T	ENST00000518659.1	+	23	4735	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	TENM2_ENST00000545108.1_Missense_Mutation_p.R1565W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1390W|TENM2_ENST00000519204.1_Missense_Mutation_p.R1445W|TENM2_ENST00000520394.1_Missense_Mutation_p.R1327W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1566					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGAAATATTCGGATCAGGGC	0.483																																						ENST00000519204.1																			0											c.(4333-4335)Cgg>Tgg		teneurin transmembrane protein 2							166	160	162					5																	167645592		1954	4138	6092	SO:0001583	missense	57451							g.chr5:167645592C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4696C>T	5.37:g.167645592C>T	ENSP00000429430:p.Arg1566Trp					TENM2_ENST00000545108.1_Missense_Mutation_p.R1565W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1390W|TENM2_ENST00000520394.1_Missense_Mutation_p.R1327W|TENM2_ENST00000518659.1_Missense_Mutation_p.R1566W	p.R1445W							22	4451	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4333C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587215	0.86851	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.91180	-2.8;0.38;-2.8;-2.8;-2.8	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.048995	0.85682	D	0.000000	D	0.96259	0.8780	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.96120	0.9084	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1565;1566;1327	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	1566;1565;1445;1327;1390	ENSP00000429430:R1566W;ENSP00000438635:R1565W;ENSP00000428964:R1445W;ENSP00000427874:R1327W;ENSP00000384905:R1390W	ENSP00000384905:R1390W	R	+	1	2	ODZ2	167578170	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CGG		0.483	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		155	698	0	0	0	1	0	155	698					T	167645592	C	T	167645592	3	4	79	1	0	0	0	0	1	0	0	0	10877	875	31	1	4759	1	ODZ2	5	167645592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4753854	167645592	13269668	6820	17137											
ODZ2	57451	broad.mit.edu	37	chr5	167674181	167674181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaagcagatctacaggttCtccgaggaaggcatggtcaa	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674181C>A	ENST00000518659.1	+	27	6276	c.6237C>A	c.(6235-6237)ttC>ttA	p.F2079L	TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1958L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1840L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2079					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.F1912L(1)									TCTACAGGTTCTCCGAGGAAG	0.542																																						ENST00000519204.1																			1	Substitution - Missense(1)	p.F1912L(1)	large_intestine(1)								c.(5872-5874)ttC>ttA		teneurin transmembrane protein 2							118	117	117					5																	167674181		2016	4184	6200	SO:0001583	missense	57451							g.chr5:167674181C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6237C>A	5.37:g.167674181C>A	ENSP00000429430:p.Phe2079Leu					TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1840L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2079L	p.F1958L							26	5992	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5874C>A		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305576	0.60305	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.07;-2.06;-2.18;-2.51;-2.55	5.32	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.85859	2.78	0.48632	D	0.999684	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.90436	0.4428	10	0.20519	T	0.43	.	9.2418	0.37500	0.0:0.7511:0.0:0.2488	.	2078;2079;1840	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2079;2078;1958;1840;1903	ENSP00000429430:F2079L;ENSP00000438635:F2078L;ENSP00000428964:F1958L;ENSP00000427874:F1840L;ENSP00000384905:F1903L	ENSP00000384905:F1903L	F	+	3	2	ODZ2	167606759	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	2.164000	0.42387	0.537000	0.28751	0.561000	0.74099	TTC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		120	444	1	0	2.21197e-46	1	2.71663e-46	120	444					A	167674181	C	A	167674181	3	1	79	1	0	0	0	0	1	0	0	0	10877	912	32	3	6316	3	ODZ2	5	167674181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28589	167674181	13241079	6821	17138											
ODZ2	57451	broad.mit.edu	37	chr5	167674992	167674992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacctcactgtactacgacCtccagggccacctctttgcc	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674992C>A	ENST00000518659.1	+	27	7087	c.7048C>A	c.(7048-7050)Ctc>Atc	p.L2350I	TENM2_ENST00000545108.1_Missense_Mutation_p.L2349I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2174I|TENM2_ENST00000519204.1_Missense_Mutation_p.L2229I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2111I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2350					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTACTACGACCTCCAGGGCCA	0.547																																						ENST00000519204.1																			0											c.(6685-6687)Ctc>Atc		teneurin transmembrane protein 2							104	109	107					5																	167674992		2057	4213	6270	SO:0001583	missense	57451							g.chr5:167674992C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7048C>A	5.37:g.167674992C>A	ENSP00000429430:p.Leu2350Ile					TENM2_ENST00000545108.1_Missense_Mutation_p.L2349I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2174I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2111I|TENM2_ENST00000518659.1_Missense_Mutation_p.L2350I	p.L2229I							26	6803	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6685C>A		.	.	.	.	.	.	.	.	.	.	c	17.42	3.384351	0.61845	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90069	-2.13;-2.12;-2.23;-2.58;-2.61	5.43	4.53	0.55603	.	0.059631	0.64402	D	0.000002	D	0.93184	0.7829	M	0.81341	2.54	0.38619	D	0.951103	D;D;D	0.64830	0.994;0.989;0.99	P;P;D	0.72982	0.901;0.744;0.979	D	0.92691	0.6166	10	0.38643	T	0.18	.	9.3598	0.38188	0.0:0.7789:0.1459:0.0752	.	2349;2350;2111	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2350;2349;2229;2111;2174	ENSP00000429430:L2350I;ENSP00000438635:L2349I;ENSP00000428964:L2229I;ENSP00000427874:L2111I;ENSP00000384905:L2174I	ENSP00000384905:L2174I	L	+	1	0	ODZ2	167607570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.728000	0.47319	1.227000	0.43598	0.556000	0.70494	CTC		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		89	370	1	0	5.02048e-33	1	5.94302e-33	89	370					A	167674992	C	A	167674992	3	1	79	1	0	0	0	0	1	0	0	0	10877	681	24	3	7127	3	ODZ2	5	167674992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	811	167674992	13240268	6822	17139											
WWC1	23286	broad.mit.edu	37	chr5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtggtggcccaggagGctctgagtgcacaaaaggag	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	106					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCAGGAGGCTCTGAGTGC	0.562																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(316-318)Gct>Act		WW and C2 domain containing 1							106	106	106					5																	167812302		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812302G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.316G>A	5.37:g.167812302G>A	ENSP00000265293:p.Ala106Thr					WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	818	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	106					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.316G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.630000|5.630000	0.96671|0.96671	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06449|.	3.3;3.3|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.502;1.0;0.995|.	B;D;D|.	0.87578|.	0.28;0.998;0.962|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.42905|.	T|.	0.14|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;12;106|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	T|D	106|67	ENSP00000265293:A106T;ENSP00000427772:A106T|.	ENSP00000265293:A106T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167744880|167744880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.562	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		53	263	0	0	0	1	0	53	263					A	167812302	G	A	167812302	3	1	79	1	0	0	0	0	1	0	0	0	17465	1203	42	2	326	2	WWC1	5	167812302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137310	167812302	13102958	6823	17140											
WWC1	23286	broad.mit.edu	37	chr5	167833206	167833206	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattaactgtctcctagaatCgataagaaaatgtctgatgc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	198					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCTAGAATCGATAAGAAAA	0.483																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(592-594)atC>atT		WW and C2 domain containing 1							129	118	122					5																	167833206		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167833206C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.594C>T	5.37:g.167833206C>T						WWC1_ENST00000521089.1_Silent_p.I198I	p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	6	1096	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	198					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.594C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317446	0.23908	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.45	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0813	0.09927	0.0:0.472:0.0:0.528	.	.	.	.	X	160	.	.	R	+	1	2	WWC1	167765784	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.284000	0.44531	0.561000	0.74099	CGA		0.483	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		96	452	0	0	0	1	0	96	452					T	167833206	C	T	167833206	2	4	79	1	0	0	0	0	0	0	0	1	17465	874	31	1		1	WWC1	5	167833206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20904	167833206	13082054	6824	17141											
WWC1	23286	broad.mit.edu	37	chr5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccaagacccagaagGcagagggaggtggccgcctg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	512					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCAGAAGGCAGAGGGAGG	0.657																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1534-1536)Gca>Aca		WW and C2 domain containing 1							71	57	62					5																	167850797		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850797G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1534G>A	5.37:g.167850797G>A	ENSP00000265293:p.Ala512Thr					WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	2036	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	512					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1534G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.707|0.707	-0.788550|-0.788550	0.02884|0.02884	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.39229|.	1.09;1.09|.	5.22|5.22	2.48|2.48	0.30137|0.30137	.|.	0.522413|.	0.20287|.	N|.	0.095337|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04043|0.04043	-0.29|-0.29	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.001;0.007;0.007;0.002|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07990|.	T|.	0.79|.	.|.	7.9508|7.9508	0.30014|0.30014	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	512;418;418;512|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|D	512|473;288	ENSP00000265293:A512T;ENSP00000427772:A512T|.	ENSP00000265293:A512T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167783375|167783375	0.966000|0.966000	0.33281|0.33281	0.439000|0.439000	0.26833|0.26833	0.013000|0.013000	0.08279|0.08279	1.428000|1.428000	0.34892|0.34892	0.605000|0.605000	0.29947|0.29947	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.657	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		53	272	0	0	0	1	0	53	272					A	167850797	G	A	167850797	3	1	79	1	0	0	0	0	1	0	0	0	17465	1203	42	2	1576	2	WWC1	5	167850797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17591	167850797	13064463	6825	17142											
WWC1	23286	broad.mit.edu	37	chr5	167882444	167882444	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggagagtgggcaccccgtcCcaggggccatttcttcgagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2740-2742)tcC>tcA		WW and C2 domain containing 1							101	105	104					5																	167882444		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882444C>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2742C>A	5.37:g.167882444C>A						WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	3244	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	914			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2742C>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291924	0.01375	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.46	-2.98	0.05513	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	.	0.9385	0.01350	0.2684:0.2673:0.2657:0.1986	.	.	.	.	T	876;691	.	.	P	+	1	0	WWC1	167815022	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.200000	0.01237	-0.511000	0.06514	-0.768000	0.03414	CCA		0.632	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		163	705	1	0	6.23011e-66	1	7.88058e-66	163	705					A	167882444	C	A	167882444	2	1	79	1	0	0	0	0	0	0	0	1	17465	610	22	3		3	WWC1	5	167882444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31647	167882444	13032816	6826	17143											
WWC1	23286	broad.mit.edu	37	chr5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagttagacctgcaggCgacaagaacctggcacagcc	12	13	0	2	rs527539467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCTGCAGGCGACAAGAACC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.001					ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2989-2991)gCg>gTg		WW and C2 domain containing 1							69	67	68					5																	167891807		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891807C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2990C>T	5.37:g.167891807C>T	ENSP00000265293:p.Ala997Val					WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	p.A997V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3492	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	997			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2990C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036953	0.54896	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.51325	0.71;0.71;0.71	5.14	5.14	0.70334	.	0.060571	0.64402	D	0.000003	T	0.63651	0.2529	L	0.46819	1.47	0.58432	D	0.999991	D;B	0.89917	1.0;0.45	D;B	0.80764	0.994;0.046	T	0.63435	-0.6638	10	0.48119	T	0.1	.	18.6288	0.91352	0.0:1.0:0.0:0.0	.	1003;997	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	V	997;1003;329	ENSP00000265293:A997V;ENSP00000427772:A1003V;ENSP00000428084:A329V	ENSP00000265293:A997V	A	+	2	0	WWC1	167824385	1.000000	0.71417	0.952000	0.39060	0.064000	0.16182	4.558000	0.60789	2.405000	0.81733	0.555000	0.69702	GCG		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		54	320	0	0	0	1	0	54	320					T	167891807	C	T	167891807	3	4	79	1	0	0	0	0	1	0	0	0	17465	768	27	1	3090	1	WWC1	5	167891807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9363	167891807	13023453	6827	17144											
RARS	5917	broad.mit.edu	37	chr5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatttgcagggtatgacGtgctcaggtatgtgctcttg	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	232					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGGGTATGACGTGCTCAGGTA	0.408																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(694-696)Gtg>Atg		arginyl-tRNA synthetase							171	162	165					5																	167922434		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167922434G>A	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.694G>A	5.37:g.167922434G>A	ENSP00000231572:p.Val232Met					RARS_ENST00000538719.1_Missense_Mutation_p.V26M	p.V232M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	6	748	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	232					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.694G>A	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573133	0.86542	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.76709	-1.04;-0.81	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94383	0.7606	10	0.87932	D	0	-14.2961	18.4023	0.90520	0.0:0.0:1.0:0.0	.	232	P54136	SYRC_HUMAN	M	232;26	ENSP00000231572:V232M;ENSP00000439108:V26M	ENSP00000231572:V232M	V	+	1	0	RARS	167855012	1.000000	0.71417	0.905000	0.35620	0.754000	0.42855	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GTG		0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		135	505	0	0	0	1	0	135	505					A	167922434	G	A	167922434	3	1	79	1	0	0	0	0	1	0	0	0	13108	1145	40	1	716	1	RARS	5	167922434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30627	167922434	12992826	6828	17145											
RARS	5917	broad.mit.edu	37	chr5	167929034	167929034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctatgatgcattggaCgtctctttaatagagagagg	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Silent_p.D121D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGCATTGGACGTCTCTTTAA	0.308																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(979-981)gaC>gaT		arginyl-tRNA synthetase							93	100	98					5																	167929034		2202	4293	6495	SO:0001819	synonymous_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167929034C>T	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.981C>T	5.37:g.167929034C>T						RARS_ENST00000538719.1_Silent_p.D121D|RARS_ENST00000520421.1_3'UTR	p.D327D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	9	1035	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	327					B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	c.981C>T	CCDS4367.1																																																																																				0.308	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		32	447	0	0	0	1	0	32	447					T	167929034	C	T	167929034	2	4	79	1	0	0	0	0	0	0	0	1	13108	535	19	1		1	RARS	5	167929034	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6600	167929034	12986226	6829	17146											
SLIT3	6586	broad.mit.edu	37	chr5	168112785	168112785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagtgatgagcttctcGcatctggggccggcgaagcc	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000332966.8_Silent_p.C1161C|SLIT3_ENST00000404867.3_Silent_p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1154	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			TGAGCTTCTCGCATCTGGGGC	0.647																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(3460-3462)tgC>tgT		slit homolog 3 (Drosophila)							57	58	58					5																	168112785		2203	4300	6503	SO:0001819	synonymous_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.chr5:168112785G>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.3462C>T	5.37:g.168112785G>A						SLIT3_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1154			EGF-like 6.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3462C>T	CCDS4369.1																																																																																				0.647	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		52	244	0	0	0	1	0	52	244					A	168112785	G	A	168112785	2	1	79	1	0	0	0	0	0	0	0	1	14791	1079	38	1		1	SLIT3	5	168112785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183751	168112785	12802475	6830	17147											
SLIT3	6586	broad.mit.edu	37	chr5	168139347	168139347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacgctggaaatgtcattGccatggagggttctgaagca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	SLIT3_ENST00000332966.8_Silent_p.G832G|CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	832					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)			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)			AAATGTCATTGCCATGGAGGG	0.493																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(2494-2496)ggC>ggA		slit homolog 3 (Drosophila)							140	127	131					5																	168139347		2203	4300	6503	SO:0001819	synonymous_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.chr5:168139347G>T	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.2496C>A	5.37:g.168139347G>T						CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G|SLIT3_ENST00000332966.8_Silent_p.G832G	p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		24	2915	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	832					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2496C>A	CCDS4369.1																																																																																				0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		25	305	1	0	3.65163e-15	1	3.98403e-15	25	305					T	168139347	G	T	168139347	2	4	79	1	0	0	0	0	0	0	0	1	14791	1306	46	3		3	SLIT3	5	168139347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26562	168139347	12775913	6831	17148											
SLIT3	6586	broad.mit.edu	37	chr5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaactggccaactgtccGtcgctgtcgcagccaatccg	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				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)			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)			CCAACTGTCCGTCGCTGTCGC	0.612																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(700-702)Cgg>Tgg		slit homolog 3 (Drosophila)							74	67	70					5																	168244398		2203	4300	6503	SO:0001583	missense	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.chr5:168244398G>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.700C>T	5.37:g.168244398G>A	ENSP00000430333:p.Arg234Trp					SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1119	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	234			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.700C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826038	0.71143	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	-0.0254	0.13935	Cysteine-rich flanking region, C-terminal (1);	0.169770	0.49305	D	0.000159	T	0.79879	0.4522	L	0.45137	1.4	0.28541	N	0.912114	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.63957	0.895;0.92;0.757	T	0.75311	-0.3362	10	0.87932	D	0	.	11.5006	0.50435	0.0:0.1126:0.3165:0.5709	.	234;234;234	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	W	234	ENSP00000430333:R234W;ENSP00000332164:R234W;ENSP00000384890:R234W	ENSP00000332164:R234W	R	-	1	2	SLIT3	168176976	0.997000	0.39634	0.813000	0.32504	0.990000	0.78478	3.642000	0.54367	-0.019000	0.14055	0.561000	0.74099	CGG		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		57	245	0	0	0	1	0	57	245					A	168244398	G	A	168244398	3	1	79	1	0	0	0	0	1	0	0	0	14791	1144	40	1	3987	1	SLIT3	5	168244398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105051	168244398	12670862	6832	17149											
SLIT3	6586	broad.mit.edu	37	chr5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcacatcggtgatgccgcgGaacgccttcctcgggatccc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L|SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	153					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)			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)			TGATGCCGCGGAACGCCTTCC	0.498																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(457-459)ttC>ttA		slit homolog 3 (Drosophila)							127	106	113					5																	168310296		2203	4300	6503	SO:0001583	missense	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.chr5:168310296G>T	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.459C>A	5.37:g.168310296G>T	ENSP00000430333:p.Phe153Leu					SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	878	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	153					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.459C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916738	0.52546	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.64803	-0.12;-0.12;-0.12	4.97	4.1	0.47936	.	0.057875	0.64402	D	0.000002	T	0.66167	0.2762	L	0.41236	1.265	0.51482	D	0.999922	D;D	0.89917	0.99;1.0	D;D	0.91635	0.979;0.999	T	0.63097	-0.6713	10	0.33141	T	0.24	.	6.2219	0.20685	0.3298:0.0:0.6702:0.0	.	153;153	O75094-2;O75094	.;SLIT3_HUMAN	L	153	ENSP00000430333:F153L;ENSP00000332164:F153L;ENSP00000384890:F153L	ENSP00000332164:F153L	F	-	3	2	SLIT3	168242874	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.645000	0.54389	1.081000	0.41110	-0.140000	0.14226	TTC		0.498	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		56	302	1	0	6.20203e-27	1	7.16519e-27	56	302					T	168310296	G	T	168310296	3	4	79	1	0	0	0	0	1	0	0	0	14791	1165	41	3	4240	3	SLIT3	5	168310296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65898	168310296	12604964	6833	17150											
DOCK2	1794	broad.mit.edu	37	chr5	169116331	169116331	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaacaatctgaaggtggtCttcacggtgagtgtgcaccc	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	279					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)			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)			TGAAGGTGGTCTTCACGGTGA	0.552																																						ENST00000256935.8																			0				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						c.(835-837)gtC>gtA		dedicator of cytokinesis 2							151	126	134					5																	169116331		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:169116331C>A	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.837C>A	5.37:g.169116331C>A							p.V279V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	917	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	279					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.837C>A	CCDS4371.1																																																																																				0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		40	171	1	0	1.59361e-14	1	1.73214e-14	40	171					A	169116331	C	A	169116331	2	1	79	1	0	0	0	0	0	0	0	1	4703	900	32	3		3	DOCK2	5	169116331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	806035	169116331	11798929	6834	17151											
DOCK2	1794	broad.mit.edu	37	chr5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctgcgattcatgtttcGacatcggtcatctctggaat	8	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000256935.8	+	16	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	512	DHR-1.				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)			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)			TTCATGTTTCGACATCGGTCA	0.498																																						ENST00000256935.8																			0				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						c.(1534-1536)cGa>cAa		dedicator of cytokinesis 2							203	171	182					5																	169138991		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.chr5:169138991G>A	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.1535G>A	5.37:g.169138991G>A	ENSP00000256935:p.Arg512Gln					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N	p.R512Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	1615	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	512			DHR-1.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1535G>A	CCDS4371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.340564|5.340564	0.95783|0.95783	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.07327|0.13778	3.2|2.56	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44180|0.44180	0.1281|0.1281	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	P|D;D	0.36483|0.89917	0.555|1.0;1.0	B|D;D	0.28553|0.87578	0.091|0.996;0.998	T|T	0.43845|0.43845	-0.9366|-0.9366	9|10	0.30078|0.66056	T|D	0.28|0.02	.|.	19.3773|19.3773	0.94517|0.94517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|512;512	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	N|Q	39|512;30	ENSP00000429283:D39N|ENSP00000256935:R512Q	ENSP00000429283:D39N|ENSP00000256935:R512Q	D|R	+|+	1|2	0|0	DOCK2|DOCK2	169071569|169071569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.956000|7.956000	0.87863|0.87863	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		85	412	0	0	0	1	0	85	412					A	169138991	G	A	169138991	3	1	79	1	0	0	0	0	1	0	0	0	4703	1058	37	1	1597	1	DOCK2	5	169138991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22660	169138991	11776269	6835	17152											
DOCK2	1794	broad.mit.edu	37	chr5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacatgcaacaccaggtcCtggagaggaagtactgcgtt	12	9	0	2	rs112062072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000256935.8	+	26	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	880					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)			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)			ACACCAGGTCCTGGAGAGGAA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18761	0.0		0.001	False		,,,				2504	0.0					ENST00000256935.8																			0				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						c.(2638-2640)Ctg>Atg		dedicator of cytokinesis 2		C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	148	125	133		2638	3.6	0.1	5	dbSNP_132	133	9,8591	7.1+/-27.0	0,9,4291	yes	missense	DOCK2	NM_004946.2	15	0,10,6493	AA,AC,CC		0.1047,0.0227,0.0769	benign	880/1831	169230145	10,12996	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.chr5:169230145C>A	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.2638C>A	5.37:g.169230145C>A	ENSP00000256935:p.Leu880Met					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M	p.L880M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	2718	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	880					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2638C>A	CCDS4371.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.81	1.749829	0.30955	2.27E-4	0.001047	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21361	2.01;2.01;2.01	5.36	3.56	0.40772	.	0.921684	0.09265	N	0.825915	T	0.11067	0.0270	N	0.08118	0	0.42644	D	0.99342	B;B	0.30709	0.291;0.042	B;B	0.24541	0.054;0.037	T	0.07731	-1.0757	10	0.54805	T	0.06	.	8.148	0.31124	0.282:0.6461:0.0:0.0719	.	372;880	E7ERW7;Q92608	.;DOCK2_HUMAN	M	880;261;372;84	ENSP00000256935:L880M;ENSP00000429283:L372M;ENSP00000428841:L84M	ENSP00000256935:L880M	L	+	1	2	DOCK2	169162723	0.088000	0.21588	0.133000	0.22050	0.957000	0.61999	0.944000	0.29043	0.733000	0.32492	0.655000	0.94253	CTG		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		59	245	1	0	2.18419e-29	1	2.55125e-29	59	245					A	169230145	C	A	169230145	3	1	79	1	0	0	0	0	1	0	0	0	4703	680	24	3	2740	3	DOCK2	5	169230145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91154	169230145	11685115	6836	17153											
DOCK2	1794	broad.mit.edu	37	chr5	169412848	169412848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggacttcttgatggagaCcttcatcatgttcaaggacc	9	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169412848C>T	ENST00000256935.8	+	29	2995	c.2915C>T	c.(2914-2916)aCc>aTc	p.T972I	DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	972	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)			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)			TTGATGGAGACCTTCATCATG	0.453																																						ENST00000256935.8																			0				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						c.(2914-2916)aCc>aTc		dedicator of cytokinesis 2							251	231	238					5																	169412848		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.chr5:169412848C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2915C>T	5.37:g.169412848C>T	ENSP00000256935:p.Thr972Ile					DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I	p.T972I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		29	2995	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	972			Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2915C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167730	0.21621	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.28255	1.62;1.62;1.62	5.19	5.19	0.71726	.	0.113505	0.64402	D	0.000016	T	0.26774	0.0655	N	0.05330	-0.07	0.47949	D	0.999556	B;D	0.63880	0.024;0.993	B;P	0.56343	0.022;0.796	T	0.03051	-1.1078	10	0.02654	T	1	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	464;972	E7ERW7;Q92608	.;DOCK2_HUMAN	I	972;464;33	ENSP00000256935:T972I;ENSP00000429283:T464I;ENSP00000438827:T33I	ENSP00000256935:T972I	T	+	2	0	DOCK2	169345426	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	5.986000	0.70563	2.426000	0.82243	0.561000	0.74099	ACC		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	649	0	0	0	1	0	13	649					T	169412848	C	T	169412848	3	4	79	1	0	0	0	0	1	0	0	0	4703	507	18	2	3029	2	DOCK2	5	169412848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182703	169412848	11502412	6837	17154											
DOCK2	1794	broad.mit.edu	37	chr5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattcccctccttcctgCgggtgagtttgggggtgact	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	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.R1357W(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)			CTCCTTCCTGCGGGTGAGTTT	0.542																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.R1357W(1)	kidney(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						c.(4069-4071)Cgg>Tgg		dedicator of cytokinesis 2							68	68	68					5																	169474616		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.chr5:169474616C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4069C>T	5.37:g.169474616C>T	ENSP00000256935:p.Arg1357Trp					DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W	p.R1357W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4149	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1357			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4069C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		44	217	0	0	0	1	0	44	217					T	169474616	C	T	169474616	3	4	79	1	0	0	0	0	1	0	0	0	4703	759	27	1	4227	1	DOCK2	5	169474616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61768	169474616	11440644	6838	17155											
DOCK2	1794	broad.mit.edu	37	chr5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggtgtcagataacttgCgacccttccatgaccggatg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				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)			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)			AGATAACTTGCGACCCTTCCA	0.502																																						ENST00000256935.8																			0				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						c.(4786-4788)Cga>Tga		dedicator of cytokinesis 2							161	158	159					5																	169503008		2203	4300	6503	SO:0001587	stop_gained	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.chr5:169503008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4786C>T	5.37:g.169503008C>T	ENSP00000256935:p.Arg1596*					DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*	p.R1596*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4866	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1596			DHR-2.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.4786C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	DOCK2	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		126	604	0	0	0	1	0	126	604					T	169503008	C	T	169503008	4	4	79	1	0	0	0	0	0	1	0	0	4703	760	27	1	4972	1	DOCK2	5	169503008	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28392	169503008	11412252	6839	17156											
FOXI1	2299	broad.mit.edu	37	chr5	169533265	169533265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccagcgtgtcggggCttggggggagcgacctgggc	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	ENST00000306268.6	+	1	365	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_ENST00000449804.2_Missense_Mutation_p.L102F			Q12951	FOXI1_HUMAN	forkhead box I1	102					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGTCGGGGCTTGGGGGGAG	0.697									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(304-306)Ctt>Ttt		forkhead box I1							12	11	11					5																	169533265		2192	4277	6469	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533265C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.304C>T	5.37:g.169533265C>T	ENSP00000304286:p.Leu102Phe					FOXI1_ENST00000306268.6_Missense_Mutation_p.L102F	p.L102F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	349	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	102					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.304C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194894	0.22037	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94613	-3.33;-3.47	4.78	4.78	0.61160	.	0.167611	0.39274	N	0.001411	D	0.87418	0.6172	L	0.28608	0.87	0.40183	D	0.977319	B;B	0.31931	0.347;0.236	B;B	0.28011	0.085;0.039	T	0.83332	-0.0012	10	0.23302	T	0.38	.	6.2189	0.20671	0.0:0.7619:0.0:0.2381	.	102;102	Q12951-2;Q12951	.;FOXI1_HUMAN	F	102	ENSP00000304286:L102F;ENSP00000415483:L102F	ENSP00000304286:L102F	L	+	1	0	FOXI1	169465843	0.664000	0.27457	0.993000	0.49108	0.405000	0.30901	1.050000	0.30404	2.202000	0.70862	0.655000	0.94253	CTT		0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	41	0	0	0	1	0	6	41					T	169533265	C	T	169533265	3	4	79	1	0	0	0	0	1	0	0	0	6036	797	28	2	306	2	FOXI1	5	169533265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30257	169533265	11381995	6840	17157											
RANBP17	64901	broad.mit.edu	37	chr5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagattccaacaacttggaGaacaagtaagaaaaaacttt	7	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	252					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACTTGGAGAACAAGTAAG	0.373			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(754-756)aGa>aTa		RAN binding protein 17							47	44	45					5																	170338133		2203	4299	6502	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170338133G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.755G>T	5.37:g.170338133G>T	ENSP00000427975:p.Arg252Ile						p.R252I	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	919	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	252					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.755G>T	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.7|25.7	4.661002|4.661002	0.88154|0.88154	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.29397	.|1.57	5.43|5.43	4.56|4.56	0.56223|0.56223	.|Armadillo-type fold (1);	.|0.089808	.|0.49305	.|D	.|0.000156	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71803|0.71803	-0.4482|-0.4482	5|10	.|0.59425	.|D	.|0.04	-10.4345|-10.4345	13.8894|13.8894	0.63729|0.63729	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|252	.|Q9H2T7	.|RBP17_HUMAN	D|I	34|252;148	.|ENSP00000427975:R252I	.|ENSP00000373770:R252I	E|R	+|+	3|2	2|0	RANBP17|RANBP17	170270711|170270711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.608000|6.608000	0.74168|0.74168	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.373	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		28	176	1	0	1.75199e-13	1	1.89187e-13	28	176					T	170338133	G	T	170338133	3	4	79	1	0	0	0	0	1	0	0	0	13077	942	33	3	781	3	RANBP17	5	170338133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	804868	170338133	10577127	6841	17158											
RANBP17	64901	broad.mit.edu	37	chr5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagggtttgtctgatccaGgtaattatcatgaattttgt	9	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	324					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGATCCAGGTAATTATCA	0.333			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(970-972)Ggt>Tgt		RAN binding protein 17							138	134	136					5																	170345732		2203	4299	6502	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170345732G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.970G>T	5.37:g.170345732G>T	ENSP00000427975:p.Gly324Cys						p.G324C	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1134	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	324					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.970G>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.104061	0.76983	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.49432	0.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.56217	0.1970	L	0.53249	1.67	0.42504	D	0.992947	D	0.62365	0.991	P	0.54759	0.76	T	0.58836	-0.7566	10	0.66056	D	0.02	-15.4537	12.8262	0.57721	0.0754:0.0:0.9246:0.0	.	324	Q9H2T7	RBP17_HUMAN	C	324;220	ENSP00000427975:G324C	ENSP00000373770:G324C	G	+	1	0	RANBP17	170278337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.096000	0.57734	2.712000	0.92718	0.491000	0.48974	GGT		0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		16	221	1	0	1.45105e-14	1	1.57787e-14	16	221					T	170345732	G	T	170345732	3	4	79	1	0	0	0	0	1	0	0	0	13077	1000	35	3	1008	3	RANBP17	5	170345732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7599	170345732	10569528	6842	17159											
RANBP17	64901	broad.mit.edu	37	chr5	170632528	170632528	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctttcccactgacagCgtatgttgatcgggctggca	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	715					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.R715S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACTGACAGCGTATGTTGAT	0.428			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.R715S(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.e20-1		RAN binding protein 17							161	138	146					5																	170632528		2203	4300	6503	SO:0001630	splice_region_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170632528C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2143-1C>T	5.37:g.170632528C>T						RANBP17_ENST00000521759.1_3'UTR	p.R715_splice	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		20	2307	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	715					Q8IU74	Splice_Site	SNP	ENST00000523189.1	37	c.2142_splice	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845396	0.71603	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.80059	0.4554	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.932;0.969;0.932	T	0.78986	-0.1987	9	.	.	.	-11.8389	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	715;40;715	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	C	715;145	ENSP00000427975:R715C	.	R	+	1	0	RANBP17	170565133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	2.832000	0.97577	0.655000	0.94253	CGT		0.428	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Missense_Mutation	45	212	0	0	0	1	0	45	212					T	170632528	C	T	170632528	5	4	79	1	0	0	0	0	0	0	1	0	13077	782	27	1	2221	1	RANBP17	5	170632528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286796	170632528	10282732	6843	17160											
RANBP17	64901	broad.mit.edu	37	chr5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgccttgtgtggaaatTatgtcagctttggcgtcttc	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	845					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTGGAAATTATGTCAGCTT	0.453			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2533-2535)Tat>Cat		RAN binding protein 17							275	261	266					5																	170668042		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170668042T>C	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2533T>C	5.37:g.170668042T>C	ENSP00000427975:p.Tyr845His					RANBP17_ENST00000521759.1_3'UTR	p.Y845H	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		23	2697	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	845					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2533T>C	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455417	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.63255	-0.03	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.50627	D	0.000108	D	0.84092	0.5396	M	0.93808	3.46	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88025	0.2771	10	0.59425	D	0.04	-9.9405	15.4819	0.75534	0.0:0.0:0.0:1.0	.	845;845	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	845;275	ENSP00000427975:Y845H	ENSP00000427975:Y845H	Y	+	1	0	RANBP17	170600647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.067000	0.61834	0.455000	0.32223	TAT		0.453	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		243	892	0	0	0	1	0	243	892					C	170668042	T	C	170668042	3	2	79	1	0	0	0	0	1	0	0	0	13077	1754	61	4	2623	4	RANBP17	5	170668042	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35514	170668042	10247218	6844	17161											
FGF18	8817	broad.mit.edu	37	chr5	170883635	170883635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaagtactccggctggtaCgtgggcttcaccaagaaggg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170883635C>T	ENST00000274625.5	+	5	994	c.450C>T	c.(448-450)taC>taT	p.Y150Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	150					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGGCTGGTACGTGGGCTTCA	0.622																																						ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(448-450)taC>taT		fibroblast growth factor 18							86	90	89					5																	170883635		2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883635C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.450C>T	5.37:g.170883635C>T							p.Y150Y	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	994	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	150					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.450C>T	CCDS4378.1																																																																																				0.622	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		15	760	0	0	0	1	0	15	760					T	170883635	C	T	170883635	2	4	79	1	0	0	0	0	0	0	0	1	5871	547	19	1		1	FGF18	5	170883635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215593	170883635	10031625	6845	17162											
FBXW11	23291	broad.mit.edu	37	chr5	171305026	171305026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactcacctcaccgtagaAtctgaagagccagttacaat	6	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000265094.5	-	7	1034	c.897T>C	c.(895-897)gaT>gaC	p.D299D	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000296933.6_Silent_p.D286D|FBXW11_ENST00000425623.2_Silent_p.D267D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	299					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(856-858)gaT>gaC		F-box and WD repeat domain containing 11							111	96	101					5																	171305026		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171305026A>G	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.897T>C	5.37:g.171305026A>G						FBXW11_ENST00000265094.5_Silent_p.D299D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000425623.2_Silent_p.D267D	p.D286D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1228	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	299					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.858T>C	CCDS34289.1																																																																																				0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		59	191	0	0	0	1	0	59	191					G	171305026	A	G	171305026	2	3	79	1	0	0	0	0	0	0	0	1	5789	98	4	4		4	FBXW11	5	171305026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	421391	171305026	9610234	6846	17163											
FBXW11	23291	broad.mit.edu	37	chr5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgctatgtgatctaagCcttgctctacaaaacagaaa	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000265094.5	-	4	517	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000296933.6_Missense_Mutation_p.G114D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	127					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(340-342)gGc>gAc		F-box and WD repeat domain containing 11							98	98	98					5																	171327098		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171327098C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.380G>A	5.37:g.171327098C>T	ENSP00000265094:p.Gly127Asp					FBXW11_ENST00000265094.5_Missense_Mutation_p.G127D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D	p.G114D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	711	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	127			Homodimerization domain D (By similarity).		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.341G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645290	0.87859	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.48	4.48	0.54585	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.964;0.973;0.974;0.988	T	0.63180	-0.6695	10	0.66056	D	0.02	-11.0944	17.1401	0.86750	0.0:1.0:0.0:0.0	.	95;93;127;114	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	D	114;127;93;95;148	ENSP00000296933:G114D;ENSP00000265094:G127D;ENSP00000377391:G93D;ENSP00000444929:G95D;ENSP00000428753:G148D	ENSP00000265094:G127D	G	-	2	0	FBXW11	171259703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.195000	0.70347	0.462000	0.41574	GGC		0.428	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		117	497	0	0	0	1	0	117	497					T	171327098	C	T	171327098	3	4	79	1	0	0	0	0	1	0	0	0	5789	739	26	2	1284	2	FBXW11	5	171327098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22072	171327098	9588162	6847	17164											
STK10	6793	broad.mit.edu	37	chr5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggttcttatccagggctatCttcaggaagtcacggaactc	11	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			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)			CCAGGGCTATCTTCAGGAAGT	0.597																																						ENST00000176763.5																			0				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						c.(814-816)aaG>aaT		serine/threonine kinase 10							112	99	104					5																	171532714		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171532714C>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.816G>T	5.37:g.171532714C>A	ENSP00000176763:p.Lys272Asn						p.K272N	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1159	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	272			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.816G>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458121	0.43634	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.20200	2.09	4.74	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122273	0.53938	D	0.000050	T	0.22513	0.0543	L	0.28504	0.86	0.58432	D	0.999998	P	0.35923	0.528	P	0.45856	0.495	T	0.04373	-1.0956	10	0.66056	D	0.02	.	10.4896	0.44744	0.0:0.9043:0.0:0.0957	.	272	O94804	STK10_HUMAN	N	272	ENSP00000176763:K272N	ENSP00000176763:K272N	K	-	3	2	STK10	171465319	0.984000	0.35163	0.759000	0.31340	0.579000	0.36224	1.338000	0.33873	0.977000	0.38444	0.655000	0.94253	AAG		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		67	290	1	0	4.37588e-27	1	5.05892e-27	67	290					A	171532714	C	A	171532714	3	1	79	1	0	0	0	0	1	0	0	0	15338	912	32	3	2142	3	STK10	5	171532714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205616	171532714	9382546	6848	17165											
UBTD2	92181	broad.mit.edu	37	chr5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctccactggtgttgggTtctgcacaggttggctcact	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	228						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478																																						ENST00000393792.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10						c.(682-684)aAc>aGc		ubiquitin domain containing 2							53	46	48					5																	171638856		2203	4300	6503	SO:0001583	missense	92181					cytoplasm		g.chr5:171638856T>C	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.683A>G	5.37:g.171638856T>C	ENSP00000377381:p.Asn228Ser						p.N228S	NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	1088	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	228					Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	c.683A>G	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	T	4.827	0.153697	0.09185	.	.	ENSG00000168246	ENST00000393792	T	0.42513	0.97	5.96	-2.33	0.06724	.	0.396616	0.32204	N	0.006425	T	0.24084	0.0583	L	0.36672	1.1	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.24483	T	0.36	.	5.6948	0.17849	0.0:0.2646:0.2396:0.4957	.	228	Q8WUN7	UBTD2_HUMAN	S	228	ENSP00000377381:N228S	ENSP00000377381:N228S	N	-	2	0	UBTD2	171571461	1.000000	0.71417	0.035000	0.18076	0.560000	0.35617	0.891000	0.28309	-0.635000	0.05531	-0.250000	0.11733	AAC		0.478	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		57	214	0	0	0	1	0	57	214					C	171638856	T	C	171638856	3	2	79	1	0	0	0	0	1	0	0	0	16962	1725	60	4	25	4	UBTD2	5	171638856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106142	171638856	9276404	6849	17166											
UBTD2	92181	broad.mit.edu	37	chr5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccgctgactacctggttCcactccctctgctgcatgca	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	188	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488																																						ENST00000393792.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10						c.(562-564)Gaa>Aaa		ubiquitin domain containing 2							134	121	125					5																	171638977		2203	4300	6503	SO:0001583	missense	92181					cytoplasm		g.chr5:171638977C>T	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.562G>A	5.37:g.171638977C>T	ENSP00000377381:p.Glu188Lys						p.E188K	NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	967	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	188			Ubiquitin-like.		Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	c.562G>A	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151244	0.38021	.	.	ENSG00000168246	ENST00000393792	T	0.73897	-0.79	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.237161	0.49305	D	0.000146	T	0.65811	0.2727	N	0.25890	0.77	0.50632	D	0.999882	B	0.26935	0.164	B	0.29077	0.098	T	0.60068	-0.7335	10	0.30078	T	0.28	-13.0712	17.9158	0.88950	0.0:1.0:0.0:0.0	.	188	Q8WUN7	UBTD2_HUMAN	K	188	ENSP00000377381:E188K	ENSP00000377381:E188K	E	-	1	0	UBTD2	171571582	0.997000	0.39634	0.980000	0.43619	0.095000	0.18619	3.298000	0.51818	2.832000	0.97577	0.655000	0.94253	GAA		0.488	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		122	548	0	0	0	1	0	122	548					T	171638977	C	T	171638977	3	4	79	1	0	0	0	0	1	0	0	0	16962	864	30	2	146	2	UBTD2	5	171638977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	171638977	9276283	6850	17167											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171780895	171780895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagcggctggtacctgAtcttccaccagccttccagg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	ENST00000311601.5	-	9	952	c.782T>G	c.(781-783)aTc>aGc	p.I261S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	261	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGTACCTGATCTTCCACCA	0.602																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(781-783)aTc>aGc		SH3 and PX domains 2B							73	65	68					5																	171780895		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171780895A>C	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.782T>G	5.37:g.171780895A>C	ENSP00000309714:p.Ile261Ser					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	952	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	261			SH3 2.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.782T>G	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404152	0.83230	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55140	-0.8187	10	0.87932	D	0	.	13.43	0.61049	1.0:0.0:0.0:0.0	.	261	A1X283	SPD2B_HUMAN	S	261	ENSP00000430890:I261S;ENSP00000309714:I261S	ENSP00000309714:I261S	I	-	2	0	SH3PXD2B	171713500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.061000	0.61500	0.459000	0.35465	ATC		0.602	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		14	408	0	0	0	1	0	14	408					C	171780895	A	C	171780895	3	2	79	1	0	0	0	0	1	0	0	0	14307	333	12	4	1973	4	SH3PXD2B	5	171780895	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	141918	171780895	9134365	6851	17168											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821594	171821594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcatcaattggtatcagGcgtttgacagccacgtcccg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000311601.5	-	4	452	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000519643.1_Silent_p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	94	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGTATCAGGCGTTTGACAG	0.468																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(280-282)cgC>cgT		SH3 and PX domains 2B							100	93	95					5																	171821594		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171821594G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.282C>T	5.37:g.171821594G>A						SH3PXD2B_ENST00000519643.1_Silent_p.R94R	p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	452	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	94			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.282C>T	CCDS34291.1																																																																																				0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		21	136	0	0	0	1	0	21	136					A	171821594	G	A	171821594	2	1	79	1	0	0	0	0	0	0	0	1	14307	1190	42	2		2	SH3PXD2B	5	171821594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40699	171821594	9093666	6852	17169											
C5orf41	153222	broad.mit.edu	37	chr5	172539317	172539317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttcacagagcttgtcGgttaaagaagaaagcccagt	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:172539317G>A	ENST00000296953.2	+	7	1935	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	CREBRF_ENST00000540014.1_Missense_Mutation_p.R541Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	539	Leucine-zipper. {ECO:0000250}.|bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAGCTTGTCGGTTAAAGAAG	0.353																																						ENST00000540014.1																			0											c.(1621-1623)cGg>cAg		CREB3 regulatory factor							76	79	78					5																	172539317		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172539317G>A	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1616G>A	5.37:g.172539317G>A	ENSP00000296953:p.Arg539Gln					CREBRF_ENST00000296953.2_Missense_Mutation_p.R539Q	p.R541Q			Q8IUR6	CE041_HUMAN			8	1941	+			539					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1622G>A	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552376	0.96501	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.22336	1.96;1.96	5.67	5.67	0.87782	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.18681	-1.0329	10	0.40728	T	0.16	.	19.7476	0.96257	0.0:0.0:1.0:0.0	.	539	Q8IUR6	CE041_HUMAN	Q	539;541;539;539	ENSP00000296953:R539Q;ENSP00000440075:R541Q	ENSP00000296953:R539Q	R	+	2	0	C5orf41	172471923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	2.678000	0.91216	0.591000	0.81541	CGG		0.353	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		61	282	0	0	0	1	0	61	282					A	172539317	G	A	172539317	3	1	79	1	0	0	0	0	1	0	0	0	2307	1116	39	1	1670	1	C5orf41	5	172539317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717723	172539317	8375943	6853	17170											
CPEB4	80315	broad.mit.edu	37	chr5	173316988	173316988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagcaaaaagtcagcaAcaggaacagcaagacccctt	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	84					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGTCAGCAACAGGAACAGC	0.483																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(250-252)caA>caG		cytoplasmic polyadenylation element binding protein 4							94	100	98					5																	173316988		2203	4300	6503	SO:0001819	synonymous_variant	80315						nucleotide binding|RNA binding	g.chr5:173316988A>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.252A>G	5.37:g.173316988A>G						CPEB4_ENST00000334035.5_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q	p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1706	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	84					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.252A>G	CCDS4390.1																																																																																				0.483	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		57	594	0	0	0	1	0	57	594					G	173316988	A	G	173316988	2	3	79	1	0	0	0	0	0	0	0	1	3812	40	2	4		4	CPEB4	5	173316988	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	777671	173316988	7598272	6854	17171											
CPEB4	80315	broad.mit.edu	37	chr5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccacttgacccacgaaAaactatatttgttggtggtg	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCCACGAAAAACTATATTT	0.428																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1738-1740)aAa>aCa		cytoplasmic polyadenylation element binding protein 4							169	144	152					5																	173378900		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173378900A>C	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1739A>C	5.37:g.173378900A>C	ENSP00000265085:p.Lys580Thr					CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000519467.1_3'UTR	p.K580T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		8	3193	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	580			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1739A>C	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899702	0.91962	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	D	0.000000	T	0.47414	0.1444	L	0.52905	1.665	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.994	D;D;D;D;D	0.76071	0.987;0.982;0.96;0.917;0.96	T	0.45716	-0.9242	10	0.87932	D	0	-16.4703	15.993	0.80220	1.0:0.0:0.0:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	T	580;555;563;555;190;173	ENSP00000265085:K580T;ENSP00000429092:K555T;ENSP00000334533:K563T;ENSP00000429048:K555T;ENSP00000430345:K190T;ENSP00000427990:K173T	ENSP00000265085:K580T	K	+	2	0	CPEB4	173311506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.236000	0.73375	0.528000	0.53228	AAA		0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		21	223	0	0	0	1	0	21	223					C	173378900	A	C	173378900	3	2	79	1	0	0	0	0	1	0	0	0	3812	14	1	4	1769	4	CPEB4	5	173378900	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61912	173378900	7536360	6855	17172											
HMP19	51617	broad.mit.edu	37	chr5	173473797	173473797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccagcgagaagggaacCaagccgccttcagttgagga	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173473797C>T	ENST00000303177.3	+	2	301	c.39C>T	c.(37-39)acC>acT	p.T13T	NSG2_ENST00000521585.1_Silent_p.T13T	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		13					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGAAGGGAACCAAGCCGCCTT	0.527																																						ENST00000303177.3																			0											c.(37-39)acC>acT									212	190	198					5																	173473797		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:173473797C>T																												ENST00000303177.3:c.39C>T	5.37:g.173473797C>T						NSG2_ENST00000521585.1_Silent_p.T13T	p.T13T	NM_015980.4	NP_057064.1					2	301	+								B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	c.39C>T	CCDS4391.1																																																																																				0.527	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			57	742	0	0	0	1	0	57	742					T	173473797	C	T	173473797	2	4	79	1	0	0	0	0	0	0	0	1	7275	581	21	2		2	HMP19	5	173473797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94897	173473797	7441463	6856	17173											
DRD1	1812	broad.mit.edu	37	chr5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggccgcaatgcgccGtatttgtttctgagcaatcc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	226					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGCGCCGTATTTGTTTC	0.493																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(676-678)Cgg>Tgg		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						124	121	122					5																	174869427		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869427G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.676C>T	5.37:g.174869427G>A	ENSP00000377353:p.Arg226Trp						p.R226W	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1668	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	226					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.676C>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637339	0.67130	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.43294	0.95	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	13.2032	0.59780	0.0:0.0:0.7355:0.2644	.	226	P21728	DRD1_HUMAN	W	226	ENSP00000377353:R226W	ENSP00000327652:R226W	R	-	1	2	DRD1	174802033	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.298000	0.43602	2.688000	0.91661	0.650000	0.86243	CGG		0.493	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		113	553	0	0	0	1	0	113	553					A	174869427	G	A	174869427	3	1	79	1	0	0	0	0	1	0	0	0	4772	1144	40	1	668	1	DRD1	5	174869427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1395630	174869427	6045833	6857	17174											
DRD1	1812	broad.mit.edu	37	chr5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgacaaagaagttggtcAccttggaccgcaggtgtcgg	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	58					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGTTGGTCACCTTGGACCG	0.587																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(172-174)gTg>gCg		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						98	80	86					5																	174869930		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869930A>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.173T>C	5.37:g.174869930A>G	ENSP00000377353:p.Val58Ala						p.V58A	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1165	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	58					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.173T>C	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673422	0.67928	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.37584	1.19	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.79343	2.45	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.66015	-0.6028	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	58	P21728	DRD1_HUMAN	A	58	ENSP00000377353:V58A	ENSP00000327652:V58A	V	-	2	0	DRD1	174802536	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.157000	0.94714	2.285000	0.76669	0.533000	0.62120	GTG		0.587	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		88	220	0	0	0	1	0	88	220					G	174869930	A	G	174869930	3	3	79	1	0	0	0	0	1	0	0	0	4772	159	6	4	1171	4	DRD1	5	174869930	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	503	174869930	6045330	6858	17175											
SFXN1	94081	broad.mit.edu	37	chr5	174919199	174919199	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcatttcttcactgtAactgaccccaggaacattct	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	31					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(91-93)gtA>gtC		sideroflexin 1							114	100	105					5																	174919199		2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174919199A>C	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.93A>C	5.37:g.174919199A>C						SFXN1_ENST00000502393.1_Silent_p.V31V	p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	347	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	31					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.93A>C	CCDS4394.1																																																																																				0.403	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		66	220	0	0	0	1	0	66	220					C	174919199	A	C	174919199	2	2	79	1	0	0	0	0	0	0	0	1	14244	349	13	4		4	SFXN1	5	174919199	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49269	174919199	5996061	6859	17176											
SFXN1	94081	broad.mit.edu	37	chr5	174937166	174937166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccagtccttcaatgccgtCgtcaattacaccaacagaag	6	13	2	1	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	130					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(388-390)gtC>gtT		sideroflexin 1		C		1,4405	2.1+/-5.4	0,1,2202	162	121	135		390	-1.5	0.3	5	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	SFXN1	NM_022754.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		130/323	174937166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174937166C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.390C>T	5.37:g.174937166C>T						SFXN1_ENST00000502393.1_Silent_p.V130V	p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	644	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	130					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.390C>T	CCDS4394.1																																																																																				0.502	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		30	81	0	0	0	1	0	30	81					T	174937166	C	T	174937166	2	4	79	1	0	0	0	0	0	0	0	1	14244	871	31	1		1	SFXN1	5	174937166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17967	174937166	5978094	6860	17177											
SFXN1	94081	broad.mit.edu	37	chr5	174940559	174940559	+	Silent	SNP	C	C	T													caagccatcacgcaagttgtCgtgtccaggattctcatggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	230					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(688-690)gtC>gtT		sideroflexin 1							106	95	99					5																	174940559		2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174940559C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.690C>T	5.37:g.174940559C>T							p.V230V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	944	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	230					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.690C>T	CCDS4394.1																																																																																				0.532	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		90	236	0	0	0	1	0	90	236					T	174940559	C	T	174940559	2	4	79	1	0	0	0	0	0	0	0	1	14244	871	31	1		1	SFXN1	5	174940559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3393	174940559	5974701	6861	17178	103	2									
SFXN1	94081	broad.mit.edu	37	chr5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T													catcacgcaagttgtcgtgtCcaggattctcatggcagccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	232					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(694-696)tCc>tTc		sideroflexin 1							102	92	96					5																	174940564		2203	4300	6503	SO:0001583	missense	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174940564C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.695C>T	5.37:g.174940564C>T	ENSP00000316905:p.Ser232Phe						p.S232F	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	949	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	232					B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	c.695C>T	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638720	0.67130	.	.	ENSG00000164466	ENST00000321442	T	0.45668	0.89	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82045	-0.0652	10	0.87932	D	0	-34.1264	17.5333	0.87820	0.0:1.0:0.0:0.0	.	232	Q9H9B4	SFXN1_HUMAN	F	232	ENSP00000316905:S232F	ENSP00000316905:S232F	S	+	2	0	SFXN1	174873170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	TCC		0.522	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		51	269	0	0	0	1	0	51	269					T	174940564	C	T	174940564	3	4	79	1	0	0	0	0	1	0	0	0	14244	855	30	2	717	2	SFXN1	5	174940564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	174940564	5974696	6862	17179	103	2									
HRH2	3274	broad.mit.edu	37	chr5	175110665	175110665	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctctctggtcttaatttgGgtcatctccattaccctgtc	6	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110665G>T	ENST00000231683.2	+	1	2202	c.429G>T	c.(427-429)tgG>tgT	p.W143C	HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	143					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTTAATTTGGGTCATCTCCA	0.552																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(427-429)tgG>tgT		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						143	114	124					5																	175110665		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110665G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.429G>T	5.37:g.175110665G>T	ENSP00000231683:p.Trp143Cys					HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2202	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	143					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.429G>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765882	0.69878	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.88818	-2.43;-2.43	5.27	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97572	1.0105	10	0.87932	D	0	.	13.0723	0.59068	0.0775:0.0:0.9225:0.0	.	143;143	P25021;Q7Z5R9	HRH2_HUMAN;.	C	143	ENSP00000366506:W143C;ENSP00000231683:W143C	ENSP00000231683:W143C	W	+	3	0	HRH2	175043271	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	1.235000	0.43724	0.462000	0.41574	TGG		0.552	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			8	324	1	0	0.00448238	1	0.00451339	8	324					T	175110665	G	T	175110665	3	4	79	1	0	0	0	0	1	0	0	0	7386	1241	43	3	431	3	HRH2	5	175110665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170101	175110665	5804595	6863	17180											
HRH2	3274	broad.mit.edu	37	chr5	175110875	175110875	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcgcccgggatcaggcCaagaggatcaatcacattag	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	213					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGGATCAGGCCAAGAGGATCA	0.572																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(637-639)gcC>gcA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						78	73	75					5																	175110875		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110875C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.639C>A	5.37:g.175110875C>A						HRH2_ENST00000377291.2_Silent_p.A213A	p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2412	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	213					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.639C>A	CCDS4395.1																																																																																				0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			34	437	1	0	2.09667e-21	1	2.36065e-21	34	437					A	175110875	C	A	175110875	2	1	79	1	0	0	0	0	0	0	0	1	7386	581	21	3		3	HRH2	5	175110875	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	175110875	5804385	6864	17181											
C5orf25	375484	broad.mit.edu	37	chr5	175772213	175772213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggagttccgtgatcgaccGaaaggacttaataatcaaaa	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175772213G>A	ENST00000443967.1	+	12	2791	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	SIMC1_ENST00000341199.6_Missense_Mutation_p.R380Q|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000332772.4_Missense_Mutation_p.R256Q|SIMC1_ENST00000430704.2_Missense_Mutation_p.R380Q			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	795							SUMO polymer binding (GO:0032184)										GTGATCGACCGAAAGGACTTA	0.438																																						ENST00000443967.1																			0											c.(2383-2385)cGa>cAa		SUMO-interacting motifs containing 1							107	106	106					5																	175772213		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175772213G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2384G>A	5.37:g.175772213G>A	ENSP00000406571:p.Arg795Gln					SIMC1_ENST00000430704.2_Missense_Mutation_p.R380Q|SIMC1_ENST00000341199.6_Missense_Mutation_p.R380Q|SIMC1_ENST00000332772.4_Missense_Mutation_p.R256Q	p.R795Q							12	2791	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2384G>A		.	.	.	.	.	.	.	.	.	.	G	18.56	3.650695	0.67472	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.39406	1.53;1.53;1.74;1.08	5.09	5.09	0.68999	.	0.185090	0.36234	N	0.002701	T	0.60663	0.2286	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.81914	0.986;0.995;0.99	T	0.62388	-0.6865	10	0.72032	D	0.01	-16.2843	16.8521	0.85996	0.0:0.0:1.0:0.0	.	256;380;795	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	Q	380;380;795;256	ENSP00000342075:R380Q;ENSP00000409287:R380Q;ENSP00000406571:R795Q;ENSP00000331311:R256Q	ENSP00000331311:R256Q	R	+	2	0	C5orf25	175704819	0.954000	0.32549	0.542000	0.28115	0.483000	0.33249	5.806000	0.69150	2.646000	0.89796	0.557000	0.71058	CGA		0.438	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		187	468	0	0	0	1	0	187	468					A	175772213	G	A	175772213	3	1	79	1	0	0	0	0	1	0	0	0	2295	1058	37	1	1173	1	C5orf25	5	175772213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	661338	175772213	5143047	6865	17182											
KIAA1191	57179	broad.mit.edu	37	chr5	175774795	175774795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggctcctcggtaggcCtgggtggcaaaacttcctac	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175774795C>A	ENST00000298569.4	-	9	1259	c.726G>T	c.(724-726)caG>caT	p.Q242H	KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	242						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CTCGGTAGGCCTGGGTGGCAA	0.512																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(724-726)caG>caT		KIAA1191							60	64	63					5																	175774795		2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175774795C>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.726G>T	5.37:g.175774795C>A	ENSP00000298569:p.Gln242His					KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	p.Q242H	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1259	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	242					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.726G>T	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491684	0.64074	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.1	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.75833	-0.3178	9	0.87932	D	0	-15.3368	10.9192	0.47154	0.0:0.7879:0.0:0.2121	.	242	Q96A73	K1191_HUMAN	H	242;223;242	.	ENSP00000298569:Q242H	Q	-	3	2	KIAA1191	175707401	0.994000	0.37717	0.997000	0.53966	0.835000	0.47333	2.837000	0.48191	0.657000	0.30906	-0.150000	0.13652	CAG		0.512	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		13	524	1	0	0.00136819	1	0.0013818	13	524					A	175774795	C	A	175774795	3	1	79	1	0	0	0	0	1	0	0	0	8242	680	24	3	195	3	KIAA1191	5	175774795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2582	175774795	5140465	6866	17183											
ARL10	285598	broad.mit.edu	37	chr5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtatgggggagctgcagcGggagctgggtctacaggcta	19	7	1	0	rs148633924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.001					ENST00000310389.5																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(598-600)cGg>cAg		ADP-ribosylation factor-like 10		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98	105	103		599	-1.5	1	5	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ARL10	NM_173664.4	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	200/245	175798762	5,13001	2203	4300	6503	SO:0001583	missense	285598						GTP binding	g.chr5:175798762G>A	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.599G>A	5.37:g.175798762G>A	ENSP00000308496:p.Arg200Gln						p.R200Q	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	4	695	+	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	200						Missense_Mutation	SNP	ENST00000310389.5	37	c.599G>A	CCDS4400.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570061	0.28003	2.27E-4	4.65E-4	ENSG00000175414	ENST00000310389	T	0.62639	0.01	5.39	-1.55	0.08558	.	4.336230	0.00664	N	0.000603	T	0.36963	0.0986	N	0.04768	-0.165	0.21782	N	0.999548	B	0.16396	0.017	B	0.09377	0.004	T	0.44081	-0.9351	10	0.02654	T	1	-5.0117	9.7024	0.40196	0.6775:0.0:0.3225:0.0	.	200	Q8N8L6	ARL10_HUMAN	Q	200	ENSP00000308496:R200Q	ENSP00000308496:R200Q	R	+	2	0	ARL10	175731368	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	0.716000	0.25836	-0.310000	0.08766	-1.202000	0.01658	CGG		0.587	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		164	433	0	0	0	1	0	164	433					A	175798762	G	A	175798762	3	1	79	1	0	0	0	0	1	0	0	0	926	1116	39	1	613	1	ARL10	5	175798762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23967	175798762	5116498	6867	17184											
CLTB	1212	broad.mit.edu	37	chr5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagccaaagtcatcagCcattttccccgcgcctccgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	2					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746																																						ENST00000310418.4																			0				lung(1)	1						c.(4-6)Gct>Act		clathrin, light chain B							14	19	17					5																	175843361		2076	4132	6208	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175843361C>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.4G>A	5.37:g.175843361C>T	ENSP00000309415:p.Ala2Thr					CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	1	209	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	2					Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.4G>A	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888267	0.52014	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	2.27	0.28462	.	0.079352	0.48767	D	0.000176	T	0.49847	0.1581	L	0.51422	1.61	0.38125	D	0.93797	B;B	0.23442	0.069;0.085	B;B	0.28011	0.051;0.085	T	0.51325	-0.8720	9	0.87932	D	0	.	8.5743	0.33590	0.3101:0.54:0.15:0.0	.	2;2	P09497-2;P09497	.;CLCB_HUMAN	T	2	.	ENSP00000309415:A2T	A	-	1	0	CLTB	175775967	1.000000	0.71417	0.863000	0.33907	0.426000	0.31534	2.189000	0.42621	0.363000	0.24346	0.462000	0.41574	GCT		0.746	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			59	199	0	0	0	1	0	59	199					T	175843361	C	T	175843361	3	4	79	1	0	0	0	0	1	0	0	0	3574	739	26	2	709	2	CLTB	5	175843361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44599	175843361	5071899	6868	17185											
FAF2	23197	broad.mit.edu	37	chr5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacgacccctgcaggttAatacagctgaccacaggatc	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	72					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(214-216)Aat>Gat		Fas associated factor family member 2							142	119	127					5																	175913437		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913437A>G	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.214A>G	5.37:g.175913437A>G	ENSP00000261942:p.Asn72Asp					FAF2_ENST00000510446.1_3'UTR	p.N72D	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	267	+			72					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.214A>G	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489276	0.64074	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	8	.	.	.	-19.0218	16.6127	0.84892	1.0:0.0:0.0:0.0	.	72	Q96CS3	FAF2_HUMAN	D	72	.	.	N	+	1	0	FAF2	175846043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.809000	0.91944	2.322000	0.78497	0.528000	0.53228	AAT		0.458	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		69	377	0	0	0	1	0	69	377					G	175913437	A	G	175913437	3	3	79	1	0	0	0	0	1	0	0	0	5391	362	13	4	224	4	FAF2	5	175913437	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70076	175913437	5001823	6869	17186											
FAF2	23197	broad.mit.edu	37	chr5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggcacttaacgatgCcaaaagggagcttcgctttc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	166					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(496-498)gCc>gAc		Fas associated factor family member 2							146	138	141					5																	175921013		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921013C>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.497C>A	5.37:g.175921013C>A	ENSP00000261942:p.Ala166Asp						p.A166D	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			6	550	+			166					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.497C>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043875	0.93685	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.71934	-0.61	5.5	5.5	0.81552	UAS (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	10	0.87932	D	0	-13.0592	19.7671	0.96349	0.0:1.0:0.0:0.0	.	166	Q96CS3	FAF2_HUMAN	D	166	ENSP00000261942:A166D	ENSP00000261942:A166D	A	+	2	0	FAF2	175853619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.414000	0.80117	2.751000	0.94390	0.650000	0.86243	GCC		0.403	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		160	366	1	0	2.95651e-86	1	3.79019e-86	160	366					A	175921013	C	A	175921013	3	1	79	1	0	0	0	0	1	0	0	0	5391	739	26	3	519	3	FAF2	5	175921013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7576	175921013	4994247	6870	17187											
CDHR2	54825	broad.mit.edu	37	chr5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgtcgctggggggccccGatgcagaagccttcagcgtc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1234-1236)Gat>Aat		cadherin-related family member 2							24	28	27					5																	176004439		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004439G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1234G>A	5.37:g.176004439G>A	ENSP00000424565:p.Asp412Asn					CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N|CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N	p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1508	+			412			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1234G>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202505	0.38905	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.16	3.28	0.37604	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	L	0.37750	1.13	0.09310	N	0.999999	D	0.53745	0.962	B	0.41510	0.359	T	0.18178	-1.0345	9	0.31617	T	0.26	-10.8328	8.1509	0.31141	0.2085:0.0:0.7914:0.0	.	412	Q9BYE9	CDHR2_HUMAN	N	412	ENSP00000424565:D412N;ENSP00000261944:D412N;ENSP00000421078:D412N	ENSP00000261944:D412N	D	+	1	0	CDHR2	175937045	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.006000	0.13152	1.094000	0.41399	0.448000	0.29417	GAT		0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	93	0	0	0	1	0	7	93					A	176004439	G	A	176004439	3	1	79	1	0	0	0	0	1	0	0	0	3128	1058	37	1	1280	1	CDHR2	5	176004439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83426	176004439	4910821	6871	17188											
CDHR2	54825	broad.mit.edu	37	chr5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagcgtctccccggaGcgggcagtgggctcagcctc	14	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1261-1263)gaG>gaT		cadherin-related family member 2							29	33	32					5																	176004468		2201	4300	6501	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004468G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1263G>T	5.37:g.176004468G>T	ENSP00000424565:p.Glu421Asp					CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D|CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D	p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1537	+			421			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1263G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570842	0.13623	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	4.54	0.779	0.18550	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22312	-1.0220	9	0.15499	T	0.54	-7.7342	9.2184	0.37362	0.3972:0.0:0.6028:0.0	.	421	Q9BYE9	CDHR2_HUMAN	D	421	ENSP00000424565:E421D;ENSP00000261944:E421D;ENSP00000421078:E421D	ENSP00000261944:E421D	E	+	3	2	CDHR2	175937074	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	1.911000	0.39937	0.273000	0.22049	-0.404000	0.06349	GAG		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		32	81	1	0	3.57733e-08	1	3.7302e-08	32	81					T	176004468	G	T	176004468	3	4	79	1	0	0	0	0	1	0	0	0	3128	962	34	3	1309	3	CDHR2	5	176004468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	176004468	4910792	6872	17189											
CDHR2	54825	broad.mit.edu	37	chr5	176005098	176005098	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcccaggaaatgggTaagggctcagggtgggccgt	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.e15+2		cadherin-related family member 2							34	36	35					5																	176005098		2203	4300	6503	SO:0001630	splice_region_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005098T>C	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1574+2T>C	5.37:g.176005098T>C						CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site		NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			15	1848	+								A1L3U4|A6NC80|Q9NXP8	Splice_Site	SNP	ENST00000510636.1	37		CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881532	0.72294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175937704	1.000000	0.71417	0.985000	0.45067	0.849000	0.48306	5.592000	0.67543	1.993000	0.58246	0.448000	0.29417	.		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Intron	36	118	0	0	0	1	0	36	118					C	176005098	T	C	176005098	5	2	79	1	0	0	0	0	0	0	1	0	3128	1652	57	4	1630	4	CDHR2	5	176005098	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	630	176005098	4910162	6873	17190											
CDHR2	54825	broad.mit.edu	37	chr5	176016537	176016537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccttcccagctcttcacCgtggaccagagttaccgctc	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1042	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3124-3126)acC>acT		cadherin-related family member 2							52	54	53					5																	176016537		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016537C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3126C>T	5.37:g.176016537C>T						CDHR2_ENST00000261944.5_Silent_p.T1042T|CDHR2_ENST00000506348.1_Silent_p.T1042T	p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			24	3400	+			1042			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3126C>T	CCDS34297.1																																																																																				0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		54	288	0	0	0	1	0	54	288					T	176016537	C	T	176016537	2	4	79	1	0	0	0	0	0	0	0	1	3128	639	23	1		1	CDHR2	5	176016537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11439	176016537	4898723	6874	17191											
CDHR2	54825	broad.mit.edu	37	chr5	176019739	176019739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcgtcaactccctggaCgacaactctgtggatgtgga	11	11	2	0	rs139924459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176019739C>T	ENST00000510636.1	+	31	4024	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1250					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTCCCTGGACGACAACTCTG	0.547																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3748-3750)gaC>gaT		cadherin-related family member 2			,	3,4403	6.2+/-15.9	0,3,2200	171	134	147		3750,3750	0.2	0.9	5	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	1250/1311,1250/1311	176019739	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176019739C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3750C>T	5.37:g.176019739C>T						CDHR2_ENST00000261944.5_Silent_p.D1250D|CDHR2_ENST00000506348.1_Silent_p.D1250D	p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			31	4024	+			1250					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3750C>T	CCDS34297.1																																																																																				0.547	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		8	352	0	0	0	1	0	8	352					T	176019739	C	T	176019739	2	4	79	1	0	0	0	0	0	0	0	1	3128	535	19	1		1	CDHR2	5	176019739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3202	176019739	4895521	6875	17192											
SNCB	6620	broad.mit.edu	37	chr5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgccccagagaacacaGctcctcccagatgtgaggcc	9	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	69					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582																																						ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(205-207)gCt>gTt		synuclein, beta							130	103	112					5																	176053475		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053475G>A	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.206C>T	5.37:g.176053475G>A	ENSP00000308057:p.Ala69Val					SNCB_ENST00000510387.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V	p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	456	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	69					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.206C>T	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676133	0.88445	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.36	4.36	0.52297	.	0.099316	0.42172	D	0.000758	D	0.91219	0.7233	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	D	0.92262	0.5818	10	0.72032	D	0.01	-8.5917	17.4511	0.87592	0.0:0.0:1.0:0.0	.	69	Q16143	SYUB_HUMAN	V	69	ENSP00000308057:A69V;ENSP00000377296:A69V;ENSP00000424073:A69V;ENSP00000422223:A69V	ENSP00000308057:A69V	A	-	2	0	SNCB	175986081	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	5.539000	0.67199	2.434000	0.82447	0.462000	0.41574	GCT		0.582	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		72	319	0	0	0	1	0	72	319					A	176053475	G	A	176053475	3	1	79	1	0	0	0	0	1	0	0	0	14892	971	34	2	210	2	SNCB	5	176053475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33736	176053475	4861785	6876	17193											
TSPAN17	26262	broad.mit.edu	37	chr5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagtgtggctacgacGtccggctcaaactggtgaga	12	12	1	1	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000503045.1	+	6	602	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I			Q96FV3	TSN17_HUMAN	tetraspanin 17	206					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607																																						ENST00000298564.10																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(292-294)Gtc>Atc		tetraspanin 17		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89	72	78		616,616,616	1.3	0.1	5	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign	206/264,206/333,206/330	176083112	4,13002	2203	4300	6503	SO:0001583	missense	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176083112G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.547G>A	5.37:g.176083112G>A	ENSP00000425212:p.Val183Ile					TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000503045.1_Missense_Mutation_p.V183I	p.V98I			Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	441	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	206					Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37	c.292G>A		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376203	0.24857	4.54E-4	2.33E-4	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000298564;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T;T	0.79653	-1.2;-1.2;-1.29;-1.25;-1.25;-1.2;-1.25	5.07	1.26	0.21427	Tetraspanin, EC2 domain (1);	0.130386	0.50627	N	0.000102	T	0.69646	0.3134	L	0.44542	1.39	0.37742	D	0.925641	B;B;B;B;B	0.29805	0.257;0.003;0.048;0.025;0.037	B;B;B;B;B	0.27262	0.078;0.003;0.032;0.025;0.013	T	0.62181	-0.6908	10	0.42905	T	0.14	-0.7924	8.5656	0.33538	0.3323:0.0:0.6677:0.0	.	206;206;206;206;98	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3;Q96FV3-2	.;.;.;TSN17_HUMAN;.	I	206;206;98;206;194;183;206	ENSP00000309036:V206I;ENSP00000385665:V206I;ENSP00000298564:V98I;ENSP00000422053:V206I;ENSP00000423957:V194I;ENSP00000425212:V183I;ENSP00000426650:V206I	ENSP00000298564:V98I	V	+	1	0	TSPAN17	176015718	0.878000	0.30173	0.067000	0.19924	0.654000	0.38779	1.159000	0.31749	-0.059000	0.13154	0.561000	0.74099	GTC		0.607	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			92	250	0	0	0	1	0	92	250					A	176083112	G	A	176083112	3	1	79	1	0	0	0	0	1	0	0	0	16694	1145	40	1	638	1	TSPAN17	5	176083112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29637	176083112	4832148	6877	17194											
UNC5A	90249	broad.mit.edu	37	chr5	176304689	176304689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcaaaaagcagtcgtgCgagggcagctgggaggtgag	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	540	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGTCGTGCGAGGGCAGCT	0.672																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1618-1620)tgC>tgT		unc-5 homolog A (C. elegans)							24	23	23					5																	176304689		2203	4297	6500	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304689C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1620C>T	5.37:g.176304689C>T						UNC5A_ENST00000261961.3_Silent_p.C500C	p.C540C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1894	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	540			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1620C>T	CCDS34299.1																																																																																				0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		45	126	0	0	0	1	0	45	126					T	176304689	C	T	176304689	2	4	79	1	0	0	0	0	0	0	0	1	17045	776	27	1		1	UNC5A	5	176304689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221577	176304689	4610571	6878	17195											
UNC5A	90249	broad.mit.edu	37	chr5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcccagaaactccacctgGacaggtgggcgggagagggg	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	787	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACCTGGACAGGTGGGC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2359-2361)Gac>Aac		unc-5 homolog A (C. elegans)							33	43	40					5																	176306485		2202	4295	6497	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306485G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2359G>A	5.37:g.176306485G>A	ENSP00000332737:p.Asp787Asn					UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	p.D787N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2633	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	787			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2359G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407567	0.83340	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86297	-2.1;-2.1	5.06	5.06	0.68205	Death (2);DEATH-like (2);	0.059778	0.64402	D	0.000003	D	0.86053	0.5841	L	0.45581	1.43	0.51482	D	0.999926	B	0.28350	0.208	B	0.37091	0.241	T	0.83186	-0.0086	10	0.35671	T	0.21	-50.0007	17.1651	0.86814	0.0:0.0:1.0:0.0	.	787	Q6ZN44	UNC5A_HUMAN	N	787;747	ENSP00000332737:D787N;ENSP00000261961:D747N	ENSP00000261961:D747N	D	+	1	0	UNC5A	176239091	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.816000	0.86201	2.630000	0.89119	0.491000	0.48974	GAC		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		34	684	0	0	0	1	0	34	684					A	176306485	G	A	176306485	3	1	79	1	0	0	0	0	1	0	0	0	17045	1174	41	2	2413	2	UNC5A	5	176306485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1796	176306485	4608775	6879	17196											
HK3	3101	broad.mit.edu	37	chr5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcggtgaccagggccGcacctttgccggacccatcc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCAGGGCCGCACCTTTGCC	0.662																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2719-2721)gCg>gTg		hexokinase 3 (white cell)							51	50	50					5																	176308126		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308126G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2720C>T	5.37:g.176308126G>A	ENSP00000292432:p.Ala907Val						p.A907V	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		19	2811	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	907			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2720C>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	HK3	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG		0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			44	220	0	0	0	1	0	44	220					A	176308126	G	A	176308126	3	1	79	1	0	0	0	0	1	0	0	0	7222	1087	38	1	55	1	HK3	5	176308126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1641	176308126	4607134	6880	17197											
HK3	3101	broad.mit.edu	37	chr5	176317669	176317669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcatctctcagcagctgGaccacatcctggccttccac	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	199	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAGCTGGACCACATCCT	0.607																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(595-597)gtC>gtT		hexokinase 3 (white cell)							220	210	214					5																	176317669		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317669G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.597C>T	5.37:g.176317669G>A							p.V199V	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	688	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	199			Regulatory.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.597C>T	CCDS4407.1																																																																																				0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			230	1419	0	0	0	1	0	230	1419					A	176317669	G	A	176317669	2	1	79	1	0	0	0	0	0	0	0	1	7222	1161	41	2		2	HK3	5	176317669	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9543	176317669	4597591	6881	17198											
HK3	3101	broad.mit.edu	37	chr5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagctccagcaccacgaagtCtccttgctctggagggcaag	11	14	2	0	rs373833147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	90	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACGAAGTCTCCTTGCTCT	0.592																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(268-270)Gac>Tac		hexokinase 3 (white cell)							42	45	44					5																	176318184		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318184C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.268G>T	5.37:g.176318184C>A	ENSP00000292432:p.Asp90Tyr						p.D90Y	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	359	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	90			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.268G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998600	0.19121	.	.	ENSG00000160883	ENST00000292432	D	0.98617	-5.03	4.96	3.14	0.36123	Hexokinase, N-terminal (1);	0.207799	0.34046	N	0.004301	D	0.98661	0.9551	M	0.71206	2.165	0.36971	D	0.893828	D	0.89917	1.0	D	0.91635	0.999	D	0.99928	1.1298	10	0.87932	D	0	-27.9387	9.3444	0.38100	0.0:0.7609:0.0:0.2391	.	90	P52790	HXK3_HUMAN	Y	90	ENSP00000292432:D90Y	ENSP00000292432:D90Y	D	-	1	0	HK3	176250790	0.787000	0.28750	0.662000	0.29724	0.329000	0.28539	1.205000	0.32308	1.222000	0.43521	0.561000	0.74099	GAC		0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			106	281	1	0	1.70349e-48	1	2.10302e-48	106	281					A	176318184	C	A	176318184	3	1	79	1	0	0	0	0	1	0	0	0	7222	913	32	3	2567	3	HK3	5	176318184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515	176318184	4597076	6882	17199											
ZNF346	23567	broad.mit.edu	37	chr5	176477887	176477887	+	Missense_Mutation	SNP	T	T	C													acaggagaccaagctcaaacTaatggcacgctatgggcggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477887T>C	ENST00000358149.3	+	5	696	c.653T>C	c.(652-654)cTa>cCa	p.L218P	ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P|ZNF346_ENST00000512315.1_Intron|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000503039.1_Missense_Mutation_p.L243P	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	218					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCAAACTAATGGCACGC	0.552																																						ENST00000503039.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(727-729)cTa>cCa		zinc finger protein 346							100	90	93					5																	176477887		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477887T>C	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.653T>C	5.37:g.176477887T>C	ENSP00000350869:p.Leu218Pro					ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000358149.3_Missense_Mutation_p.L218P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P	p.L243P			Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	732	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	218					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.728T>C	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282534	0.80692	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.71581	2.175	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;0.99;0.994;0.982	T	0.60357	-0.7279	10	0.27082	T	0.32	.	15.0933	0.72215	0.0:0.0:0.0:1.0	.	120;186;243;218	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	P	218;120;186;243;234;243	ENSP00000350869:L218P;ENSP00000423515:L120P;ENSP00000421212:L186P;ENSP00000261948:L243P;ENSP00000425725:L234P;ENSP00000424495:L243P	ENSP00000261948:L243P	L	+	2	0	ZNF346	176410493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.107000	0.77047	1.948000	0.56530	0.533000	0.62120	CTA		0.552	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		10	398	0	0	0	1	0	10	398					C	176477887	T	C	176477887	3	2	79	1	0	0	0	0	1	0	0	0	17913	1522	53	4	671	4	ZNF346	5	176477887	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159703	176477887	4437373	6883	17200	104	2									
ZNF346	23567	broad.mit.edu	37	chr5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A													agaccaagctcaaactaatgGcacgctatgggcggctggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000358149.3	+	5	701	c.658G>A	c.(658-660)Gca>Aca	p.A220T	ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T|ZNF346_ENST00000512315.1_Intron|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	220					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAACTAATGGCACGCTATGG	0.562																																						ENST00000503039.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(733-735)Gca>Aca		zinc finger protein 346							96	87	90					5																	176477892		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477892G>A	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.658G>A	5.37:g.176477892G>A	ENSP00000350869:p.Ala220Thr					ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000358149.3_Missense_Mutation_p.A220T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T	p.A245T			Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	737	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	220					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.733G>A	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487681	0.64074	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	5.21	0.72293	.	0.218203	0.47852	D	0.000208	T	0.36826	0.0981	L	0.27053	0.805	0.38824	D	0.955696	P;P;D;P	0.57571	0.852;0.911;0.98;0.929	B;B;P;B	0.49047	0.351;0.288;0.599;0.316	T	0.15206	-1.0445	10	0.32370	T	0.25	.	12.1606	0.54101	0.0784:0.0:0.9216:0.0	.	122;188;245;220	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	T	220;122;188;245;236;245	ENSP00000350869:A220T;ENSP00000423515:A122T;ENSP00000421212:A188T;ENSP00000261948:A245T;ENSP00000425725:A236T;ENSP00000424495:A245T	ENSP00000261948:A245T	A	+	1	0	ZNF346	176410498	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.441000	0.66569	2.405000	0.81733	0.655000	0.94253	GCA		0.562	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		82	324	0	0	0	1	0	82	324					A	176477892	G	A	176477892	3	1	79	1	0	0	0	0	1	0	0	0	17913	1203	42	2	676	2	ZNF346	5	176477892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	176477892	4437368	6884	17201	104	2									
FGFR4	2264	broad.mit.edu	37	chr5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaacaccgtcaagttcCgctgtccagctgcaggcaac	12	14	1	0	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CGTCAAGTTCCGCTGTCCAGC	0.612										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(511-513)Cgc>Tgc		fibroblast growth factor receptor 4	Palifermin(DB00039)	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	91	73	79		511,511,511	4.7	1	5	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	171/803,171/763,171/803	176518013	1,13005	2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176518013C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.511C>T	5.37:g.176518013C>T	ENSP00000292408:p.Arg171Cys	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C	p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	756	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	171			Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.511C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632707	0.87660	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.82193	2.58	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;0.999;0.997;0.999	D	0.85843	0.1399	10	0.66056	D	0.02	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	171;171;171;171;171;171;283	ENSP00000292408:R171C;ENSP00000424905:R171C;ENSP00000377259:R171C;ENSP00000424960:R171C;ENSP00000292410:R171C;ENSP00000377254:R171C	ENSP00000292408:R171C	R	+	1	0	FGFR4	176450619	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.179000	0.50887	2.470000	0.83445	0.561000	0.74099	CGC		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			71	153	0	0	0	1	0	71	153					T	176518013	C	T	176518013	3	4	79	1	0	0	0	0	1	0	0	0	5893	652	23	1	525	1	FGFR4	5	176518013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40121	176518013	4397247	6885	17202											
FGFR4	2264	broad.mit.edu	37	chr5	176522351	176522351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacgcctctgacaaggacCtggccgacctggtctcggag	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176522351C>A	ENST00000292408.4	+	12	1785	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TGACAAGGACCTGGCCGACCT	0.602										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1540-1542)Ctg>Atg		fibroblast growth factor receptor 4	Palifermin(DB00039)						90	88	89					5																	176522351		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176522351C>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1540C>A	5.37:g.176522351C>A	ENSP00000292408:p.Leu514Met	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M	p.L514M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1785	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	514			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1540C>A	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.495162|2.495162	0.44352|0.44352	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7;-1.7|.	4.62|4.62	-4.21|-4.21	0.03812|0.03812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52948|0.52948	0.1766|0.1766	L|L	0.41710|0.41710	1.295|1.295	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.37606|.	T|.	0.19|.	.|.	14.2483|14.2483	0.66001|0.66001	0.0:0.6208:0.0:0.3792|0.0:0.6208:0.0:0.3792	.|.	446;474;514|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	M|H	514;446;514;474;474;742|145	ENSP00000292408:L514M;ENSP00000377259:L446M;ENSP00000424960:L514M;ENSP00000292410:L474M;ENSP00000377254:L474M|.	ENSP00000292408:L514M|.	L|P	+|+	1|2	2|0	FGFR4|FGFR4	176454957|176454957	0.108000|0.108000	0.22018|0.22018	0.951000|0.951000	0.38953|0.38953	0.442000|0.442000	0.32017|0.32017	-0.007000|-0.007000	0.12810|0.12810	-0.609000|-0.609000	0.05724|0.05724	-0.459000|-0.459000	0.05422|0.05422	CTG|CCT		0.602	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			12	350	1	0	0.0135373	1	0.0136081	12	350					A	176522351	C	A	176522351	3	1	79	1	0	0	0	0	1	0	0	0	5893	680	24	3	1652	3	FGFR4	5	176522351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	176522351	4392909	6886	17203											
NSD1	64324	broad.mit.edu	37	chr5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtggggcagaagatcCtagtaaagaggatccccttc	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1085					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGAAGATCCTAGTAAAGAG	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3253-3255)cCt>cAt		nuclear receptor binding SET domain protein 1							117	127	124					5																	176638654		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638654C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3254C>A	5.37:g.176638654C>A	ENSP00000395929:p.Pro1085His	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H	p.P1085H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3299	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1085					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3254C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913458	0.17907	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.04;-3.04;-3.15	4.35	1.55	0.23275	.	0.609322	0.14615	N	0.308762	D	0.84275	0.5436	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.69198	-0.5208	9	.	.	.	.	4.1341	0.10162	0.1629:0.5913:0.1574:0.0885	.	816;982;1085	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	816;1085;816;982	ENSP00000346111:P816H;ENSP00000395929:P1085H;ENSP00000343209:P816H;ENSP00000354310:P982H	.	P	+	2	0	NSD1	176571260	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.727000	0.25999	0.205000	0.20568	-0.257000	0.10917	CCT		0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		144	385	1	0	3.11569e-49	1	3.85304e-49	144	385					A	176638654	C	A	176638654	3	1	79	1	0	0	0	0	1	0	0	0	10711	681	24	3	3268	3	NSD1	5	176638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116303	176638654	4276606	6887	17204											
NSD1	64324	broad.mit.edu	37	chr5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacatggaaaaggagccagGaattcccagtttgacaccac	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1252					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGAGCCAGGAATTCCCAGT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3754-3756)gGa>gAa		nuclear receptor binding SET domain protein 1							41	44	43					5																	176639155		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176639155G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3755G>A	5.37:g.176639155G>A	ENSP00000395929:p.Gly1252Glu	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E	p.G1252E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3800	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1252					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3755G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441657	0.63067	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.16;-3.16;-3.16;-3.27	4.68	2.86	0.33363	.	0.316419	0.22860	N	0.054747	D	0.90393	0.6993	N	0.24115	0.695	0.31661	N	0.645574	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.56343	0.741;0.796;0.555	D	0.87578	0.2482	10	0.39692	T	0.17	.	6.6042	0.22716	0.092:0.0:0.7293:0.1787	.	983;1149;1252	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	983;1252;983;1149	ENSP00000346111:G983E;ENSP00000395929:G1252E;ENSP00000343209:G983E;ENSP00000354310:G1149E	ENSP00000343209:G983E	G	+	2	0	NSD1	176571761	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.821000	0.27338	0.685000	0.31468	0.655000	0.94253	GGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		17	213	0	0	0	1	0	17	213					A	176639155	G	A	176639155	3	1	79	1	0	0	0	0	1	0	0	0	10711	1174	41	2	3769	2	NSD1	5	176639155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	176639155	4276105	6888	17205											
NSD1	64324	broad.mit.edu	37	chr5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccccgggcctggtgaagCaggcgaagcagatggtcgga	16	10	0	2	rs142579918	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049). {ECO:0000305}.	gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGTGAAGCAGGCGAAGCA	0.607			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7735-7737)Cag>Tag		nuclear receptor binding SET domain protein 1							36	36	36					5																	176722104		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176722104C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7735C>T	5.37:g.176722104C>T	ENSP00000395929:p.Gln2579*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*	p.Q2579*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7780	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2579	PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).				Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.7735C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.414138	0.99164	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	3.1	3.1	0.35709	.	0.288101	0.25250	N	0.032027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.6065	0.62050	0.0:1.0:0.0:0.0	.	.	.	.	X	2310;2579;2310;2476	.	ENSP00000343209:Q2310X	Q	+	1	0	NSD1	176654710	0.681000	0.27614	1.000000	0.80357	0.231000	0.25187	1.008000	0.29872	2.070000	0.61991	0.462000	0.41574	CAG		0.607	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		81	244	0	0	0	1	0	81	244					T	176722104	C	T	176722104	4	4	79	1	0	0	0	0	0	1	0	0	10711	711	25	2	7821	2	NSD1	5	176722104	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82949	176722104	4193156	6889	17206											
RAB24	53917	broad.mit.edu	37	chr5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggcagccttggcaccccGatagtagattctactcatgg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303251.6	-	3	654	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303270.6_Missense_Mutation_p.R50W|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	79					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCACCCCGATAGTAGATT	0.562																																						ENST00000303270.6																			0											c.(148-150)Cgg>Tgg		RAB24, member RAS oncogene family							105	99	101					5																	176729783		2203	4300	6503	SO:0001583	missense	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729783G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.235C>T	5.37:g.176729783G>A	ENSP00000304376:p.Arg79Trp					RAB24_ENST00000303251.6_Missense_Mutation_p.R79W|RAB24_ENST00000393611.2_Missense_Mutation_p.R79W	p.R50W			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	750	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	79					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.148C>T	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168804	0.78339	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.73047	-0.71;-0.71;-0.71	5.49	3.63	0.41609	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.88855	0.6550	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91429	0.5164	10	0.87932	D	0	-0.5622	14.0463	0.64706	0.0:0.0:0.7244:0.2755	.	79;50	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	79;79;50	ENSP00000377235:R79W;ENSP00000304376:R79W;ENSP00000302085:R50W	ENSP00000304376:R79W	R	-	1	2	RAB24	176662389	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.973000	0.49264	0.617000	0.30160	0.555000	0.69702	CGG		0.562	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		124	591	0	0	0	1	0	124	591					A	176729783	G	A	176729783	3	1	79	1	0	0	0	0	1	0	0	0	12961	1057	37	1	400	1	RAB24	5	176729783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7679	176729783	4185477	6890	17207											
LMAN2	10960	broad.mit.edu	37	chr5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgttcttgtcctccaggtCggtcatcacctgcagggccc	10	16	3	0	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000303127.7	-	6	889	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N|LMAN2_ENST00000506310.1_5'Flank	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	229	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCAGGTCGGTCATCACC	0.662																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(685-687)Gac>Aac		lectin, mannose-binding 2		C	ASN/ASP	0,4406		0,0,2203	97	85	89		685	5.9	1	5	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMAN2	NM_006816.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	229/357	176764242	1,13005	2203	4300	6503	SO:0001583	missense	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176764242C>T	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.685G>A	5.37:g.176764242C>T	ENSP00000303366:p.Asp229Asn					LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N	p.D229N	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	889	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	229			L-type lectin-like.		Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	c.685G>A	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693763	0.88735	0.0	1.16E-4	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096018	0.64402	D	0.000001	T	0.77219	0.4098	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67900	0.897;0.954	T	0.72786	-0.4188	10	0.33940	T	0.23	-19.5083	19.8332	0.96644	0.0:1.0:0.0:0.0	.	229;229	Q12907;D6RBV2	LMAN2_HUMAN;.	N	229;158;229;222;158	ENSP00000303366:D229N;ENSP00000423998:D229N;ENSP00000425229:D222N;ENSP00000427377:D158N	ENSP00000303366:D229N	D	-	1	0	LMAN2	176696848	1.000000	0.71417	0.954000	0.39281	0.368000	0.29767	7.423000	0.80229	2.789000	0.95967	0.655000	0.94253	GAC		0.662	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		46	282	0	0	0	1	0	46	282					T	176764242	C	T	176764242	3	4	79	1	0	0	0	0	1	0	0	0	8871	884	31	1	397	1	LMAN2	5	176764242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34459	176764242	4151018	6891	17208											
LMAN2	10960	broad.mit.edu	37	chr5	176778195	176778195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggttccagatagagccCtctttgctgcgctcgtcagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000303127.7	-	2	498	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	98	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATAGAGCCCTCTTTGCTGC	0.607																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(292-294)gaG>gaA		lectin, mannose-binding 2							132	122	125					5																	176778195		2203	4300	6503	SO:0001819	synonymous_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176778195C>T	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.294G>A	5.37:g.176778195C>T						LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	p.E98E	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	498	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	98			L-type lectin-like.		Q53HH1	Silent	SNP	ENST00000303127.7	37	c.294G>A	CCDS4417.1																																																																																				0.607	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		77	742	0	0	0	1	0	77	742					T	176778195	C	T	176778195	2	4	79	1	0	0	0	0	0	0	0	1	8871	680	24	2		2	LMAN2	5	176778195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13953	176778195	4137065	6892	17209											
RGS14	10636	broad.mit.edu	37	chr5	176785034	176785034	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcggcagcggcatgccaggGaagcccaagcacctgggcgt	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	3					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(7-9)ggG>ggT		regulator of G-protein signaling 14							6	9	8					5																	176785034		1816	4007	5823	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176785034G>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.9G>T	5.37:g.176785034G>T							p.G3G	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	197	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	3					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.9G>T	CCDS43405.1																																																																																				0.751	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		10	61	1	0	6.40141e-05	1	6.5221e-05	10	61					T	176785034	G	T	176785034	2	4	79	1	0	0	0	0	0	0	0	1	13347	1161	41	3		3	RGS14	5	176785034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6839	176785034	4130226	6893	17210											
RGS14	10636	broad.mit.edu	37	chr5	176795177	176795177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcgggactgcaaaCgccgccttgcgccgagagtc	16	13	0	1	rs186599028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	253					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0				NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(757-759)aaC>aaT		regulator of G-protein signaling 14		C		1,4005		0,1,2002	54	58	57		759	0.8	0	5		57	0,8332		0,0,4166	no	coding-synonymous	RGS14	NM_006480.4		0,1,6168	TT,TC,CC		0.0,0.025,0.0081		253/567	176795177	1,12337	2003	4166	6169	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795177C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.759C>T	5.37:g.176795177C>T							p.N253N	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	947	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	253					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.759C>T	CCDS43405.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.088	0.384607	0.11524	2.5E-4	0.0	ENSG00000169220	ENST00000511890	.	.	.	3.64	0.788	0.18601	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.3967	0.02262	0.1395:0.3579:0.1371:0.3656	.	.	.	.	M	123	.	.	T	+	2	0	RGS14	176727783	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.014000	0.13333	-0.050000	0.13356	-0.424000	0.05967	ACG		0.647	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		90	259	0	0	0	1	0	90	259					T	176795177	C	T	176795177	2	4	79	1	0	0	0	0	0	0	0	1	13347	535	19	1		1	RGS14	5	176795177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10143	176795177	4120083	6894	17211											
SLC34A1	6569	broad.mit.edu	37	chr5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccatgaaccactgcctgCcaagctggccctggaggagg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000324417.5	+	3	318	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	76					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(226-228)gCc>gTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							29	34	32					5																	176813105		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813105C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.227C>T	5.37:g.176813105C>T	ENSP00000321424:p.Ala76Val					SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	318	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	76					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.227C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561095	0.45590	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.49	5.06	4.19	0.49359	.	0.357702	0.26467	N	0.024205	T	0.31327	0.0793	L	0.27053	0.805	0.23056	N	0.998362	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.39692	T	0.17	-19.1714	7.0723	0.25185	0.0:0.718:0.1893:0.0927	.	76	Q06495	NPT2A_HUMAN	V	76	ENSP00000423022:A76V;ENSP00000321424:A76V	ENSP00000321424:A76V	A	+	2	0	SLC34A1	176745711	0.147000	0.22687	0.999000	0.59377	0.917000	0.54804	-0.007000	0.12810	1.364000	0.46038	0.561000	0.74099	GCC		0.687	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		79	204	0	0	0	1	0	79	204					T	176813105	C	T	176813105	3	4	79	1	0	0	0	0	1	0	0	0	14617	739	26	2	233	2	SLC34A1	5	176813105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17928	176813105	4102155	6895	17212											
SLC34A1	6569	broad.mit.edu	37	chr5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggggatcctggtgaCcgtgctggtgcagagctcca	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000324417.5	+	5	561	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	157					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(469-471)aCc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							80	74	76					5																	176813505		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813505C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.470C>T	5.37:g.176813505C>T	ENSP00000321424:p.Thr157Ile					SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	561	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.470C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141158	0.94560	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.94138	-3.36;-3.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-28.0744	19.6385	0.95748	0.0:1.0:0.0:0.0	.	157	Q06495	NPT2A_HUMAN	I	157	ENSP00000423022:T157I;ENSP00000321424:T157I	ENSP00000321424:T157I	T	+	2	0	SLC34A1	176746111	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	ACC		0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		89	454	0	0	0	1	0	89	454					T	176813505	C	T	176813505	3	4	79	1	0	0	0	0	1	0	0	0	14617	507	18	2	484	2	SLC34A1	5	176813505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400	176813505	4101755	6896	17213											
SLC34A1	6569	broad.mit.edu	37	chr5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaggctcccacctccatgTccagagcagaggccaactcc	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	318					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(952-954)Tcc>Ccc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							101	89	93					5																	176820710		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176820710T>C	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.952T>C	5.37:g.176820710T>C	ENSP00000321424:p.Ser318Pro					SLC34A1_ENST00000513614.1_3'UTR	p.S318P	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1043	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	318					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.952T>C	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370791	0.05034	.	.	ENSG00000131183	ENST00000324417	T	0.32988	1.43	5.39	3.42	0.39159	.	0.942630	0.08896	N	0.877946	T	0.13243	0.0321	N	0.04260	-0.245	0.30022	N	0.814269	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.25751	T	0.34	-27.075	3.302	0.06987	0.0:0.465:0.3367:0.1982	.	318	Q06495	NPT2A_HUMAN	P	318	ENSP00000321424:S318P	ENSP00000321424:S318P	S	+	1	0	SLC34A1	176753316	0.348000	0.24861	0.418000	0.26571	0.016000	0.09150	0.357000	0.20199	0.494000	0.27859	0.379000	0.24179	TCC		0.557	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		18	294	0	0	0	1	0	18	294					C	176820710	T	C	176820710	3	2	79	1	0	0	0	0	1	0	0	0	14617	1667	58	4	1073	4	SLC34A1	5	176820710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7205	176820710	4094550	6897	17214											
F12	2161	broad.mit.edu	37	chr5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccgagcaccaccgtcagatCctcgggtgcgggcctgcggg	16	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	422	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	ACCGTCAGATCCTCGGGTGCG	0.692									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1264-1266)Gat>Tat		coagulation factor XII (Hageman factor)							14	17	16					5																	176830605		2189	4278	6467	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830605C>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1264G>T	5.37:g.176830605C>A	ENSP00000253496:p.Asp422Tyr						p.D422Y	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1312	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	422			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1264G>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844716	0.32606	.	.	ENSG00000131187	ENST00000253496	D	0.89810	-2.57	5.58	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.996761	0.08126	N	0.993933	D	0.82724	0.5099	L	0.35414	1.06	0.80722	D	1	P	0.49253	0.921	B	0.41440	0.357	T	0.78362	-0.2233	10	0.54805	T	0.06	.	6.8453	0.23984	0.0:0.5317:0.3722:0.096	.	422	P00748	FA12_HUMAN	Y	422	ENSP00000253496:D422Y	ENSP00000253496:D422Y	D	-	1	0	F12	176763211	0.426000	0.25506	0.991000	0.47740	0.135000	0.20990	0.288000	0.18939	1.334000	0.45468	0.491000	0.48974	GAT		0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			34	103	1	0	1.99505e-19	1	2.22584e-19	34	103					A	176830605	C	A	176830605	3	1	79	1	0	0	0	0	1	0	0	0	5357	855	30	3	599	3	F12	5	176830605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9895	176830605	4084655	6898	17215											
GRK6	2870	broad.mit.edu	37	chr5	176859018	176859018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgactatcacagcctgtgCgagcggcagcccattgggcg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000355472.5	+	3	339	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	57	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(169-171)tgC>tgT		G protein-coupled receptor kinase 6							71	75	74					5																	176859018		2203	4299	6502	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859018C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.171C>T	5.37:g.176859018C>T						GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C	p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	339	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	57			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.171C>T	CCDS34303.1																																																																																				0.657	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		198	627	0	0	0	1	0	198	627					T	176859018	C	T	176859018	2	4	79	1	0	0	0	0	0	0	0	1	6823	776	27	1		1	GRK6	5	176859018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28413	176859018	4056242	6899	17216											
GRK6	2870	broad.mit.edu	37	chr5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggccacaggtgtgcGcctgccaggtgcgggccaca	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000355472.5	+	8	772	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(604-606)Gcc>Acc		G protein-coupled receptor kinase 6							58	59	59					5																	176860543		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860543G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.604G>A	5.37:g.176860543G>A	ENSP00000347655:p.Ala202Thr					GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T	p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	772	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	202			Protein kinase.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.604G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422879	0.96111	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.24723	3.14;1.84;1.84;1.84;1.84;1.84	5.77	5.77	0.91146	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	0.43233	0.1238	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.992;0.992;0.997	T	0.32719	-0.9896	10	0.87932	D	0	-21.2385	19.9983	0.97395	0.0:0.0:1.0:0.0	.	202;172;202;202	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	170;202;202;202;202;202	ENSP00000421055:A170T;ENSP00000347655:A202T;ENSP00000427581:A202T;ENSP00000377204:A202T;ENSP00000348230:A202T;ENSP00000433511:A202T	ENSP00000347655:A202T	A	+	1	0	GRK6	176793149	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCC		0.602	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		150	304	0	0	0	1	0	150	304					A	176860543	G	A	176860543	3	1	79	1	0	0	0	0	1	0	0	0	6823	1087	38	1	634	1	GRK6	5	176860543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1525	176860543	4054717	6900	17217											
GRK6	2870	broad.mit.edu	37	chr5	176867757	176867757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagttctctacggtcaaGggcgtggagctggagcctac	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000355472.5	+	14	1629	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	PRR7-AS1_ENST00000511565.1_RNA|PRR7-AS1_ENST00000514846.1_RNA|GRK6_ENST00000355958.5_Silent_p.K487K|GRK6_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000528793.1_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1459-1461)aaG>aaA		G protein-coupled receptor kinase 6							98	92	94					5																	176867757		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176867757G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1461G>A	5.37:g.176867757G>A						GRK6_ENST00000355958.5_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000528793.1_Silent_p.K487K	p.K487K	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1629	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	487			AGC-kinase C-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.1461G>A	CCDS34303.1																																																																																				0.587	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		97	339	0	0	0	1	0	97	339					A	176867757	G	A	176867757	2	1	79	1	0	0	0	0	0	0	0	1	6823	991	35	2		2	GRK6	5	176867757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7214	176867757	4047503	6901	17218											
DBN1	1627	broad.mit.edu	37	chr5	176885542	176885542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctccacgggagcagccagGacagcctgctctgcagactc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000309007.5	-	12	1512	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000393565.1_Silent_p.V477V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	431					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCCAGGACAGCCTGCT	0.647																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1297-1299)gtC>gtT		drebrin 1							67	80	76					5																	176885542		2203	4300	6503	SO:0001819	synonymous_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176885542G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1293C>T	5.37:g.176885542G>A						DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000309007.5_Silent_p.V431V|DBN1_ENST00000393565.1_Silent_p.V477V	p.V433V	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1908	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	431					A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	c.1299C>T	CCDS4420.1																																																																																				0.647	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		64	384	0	0	0	1	0	64	384					A	176885542	G	A	176885542	2	1	79	1	0	0	0	0	0	0	0	1	4263	1161	41	2		2	DBN1	5	176885542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17785	176885542	4029718	6902	17219											
DBN1	1627	broad.mit.edu	37	chr5	176886221	176886221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtcagacgggctccgcGtggggatgggagtgggcgcc	21	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176886221G>A	ENST00000309007.5	-	11	1223	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	DBN1_ENST00000292385.5_Missense_Mutation_p.T337M|DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	335					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTCCGCGTGGGGATGGG	0.687																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1009-1011)aCg>aTg		drebrin 1							68	70	69					5																	176886221		2203	4299	6502	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886221G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1004C>T	5.37:g.176886221G>A	ENSP00000308532:p.Thr335Met					DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000309007.5_Missense_Mutation_p.T335M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M	p.T337M	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1619	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	335					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.1010C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921700	0.33908	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.33438	1.46;1.46;1.42;1.41;1.46	4.58	4.58	0.56647	.	1.166000	0.06058	N	0.657899	T	0.29882	0.0747	N	0.14661	0.345	0.35351	D	0.787329	D;D;P;D	0.61080	0.988;0.989;0.798;0.981	P;P;B;P	0.50896	0.653;0.628;0.271;0.46	T	0.09487	-1.0672	10	0.36615	T	0.2	-0.4059	11.2259	0.48884	0.0:0.1858:0.8142:0.0	.	285;381;335;337	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	M	335;337;381;67;67	ENSP00000308532:T335M;ENSP00000292385:T337M;ENSP00000377195:T381M;ENSP00000423208:T67M;ENSP00000377193:T67M	ENSP00000292385:T337M	T	-	2	0	DBN1	176818827	0.980000	0.34600	0.939000	0.37840	0.564000	0.35744	1.979000	0.40608	2.260000	0.74910	0.462000	0.41574	ACG		0.687	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		14	651	0	0	0	1	0	14	651					A	176886221	G	A	176886221	3	1	79	1	0	0	0	0	1	0	0	0	4263	1145	40	1	961	1	DBN1	5	176886221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	176886221	4029039	6903	17220											
DOK3	79930	broad.mit.edu	37	chr5	176931297	176931297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatagaggtgctcattgCctgggggcccactggcacgc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	ENST00000357198.4	-	6	1182	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	DOK3_ENST00000501403.2_Missense_Mutation_p.G337V|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	393	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGCTCATTGCCTGGGGGCCC	0.697																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(1009-1011)gGc>gTc		docking protein 3							17	19	18					5																	176931297		2197	4300	6497	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931297C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1178G>T	5.37:g.176931297C>A	ENSP00000349727:p.Gly393Val					DOK3_ENST00000357198.4_Missense_Mutation_p.G393V|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	p.G337V			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1359	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	393			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.1010G>T	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.583989	0.00872	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.27557	2.35;1.66	3.85	-7.33	0.01431	.	2.907560	0.01601	N	0.022041	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11966	-1.0566	10	0.28530	T	0.3	-7.9429	10.3185	0.43751	0.0:0.346:0.4939:0.1601	.	393	Q7L591	DOK3_HUMAN	V	393;337	ENSP00000349727:G393V;ENSP00000421688:G337V	ENSP00000349727:G393V	G	-	2	0	DOK3	176863903	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.918000	0.04021	-1.744000	0.01338	0.306000	0.20318	GGC		0.697	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		7	114	1	0	0.00198382	1	0.00200138	7	114					A	176931297	C	A	176931297	3	1	79	1	0	0	0	0	1	0	0	0	4714	739	26	3	668	3	DOK3	5	176931297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45076	176931297	3983963	6904	17221											
DDX41	51428	broad.mit.edu	37	chr5	176940011	176940011	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcctggctgcactcaCaggcgggggtgtcttctgca	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1		DOK3_ENST00000501403.2_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTGCACTCACAGGCGGGGGT	0.637																																						ENST00000507955.1																			0											c.e12+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89	97	94					5																	176940011		2203	4300	6503	SO:0001630	splice_region_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940011C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1302+1G>A	5.37:g.176940011C>T								NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		12	1826	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	ENST00000507955.1	37		CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839580	0.71488	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1173	0.65161	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872617	1.000000	0.71417	0.896000	0.35187	0.367000	0.29736	5.691000	0.68249	1.455000	0.47813	0.655000	0.94253	.		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	Intron	74	867	0	0	0	1	0	74	867					T	176940011	C	T	176940011	5	4	79	1	0	0	0	0	0	0	1	0	4372	492	17	2	589	2	DDX41	5	176940011	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8714	176940011	3975249	6905	17222											
FAM193B	54540	broad.mit.edu	37	chr5	176951655	176951655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgagcttggctcctcGgagctggggtagcccggctt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000514747.1	-	6	1875	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Silent_p.S235S|FAM193B_ENST00000443375.2_Silent_p.S576S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	689						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(703-705)tcC>tcT		family with sequence similarity 193, member B							25	27	26					5																	176951655		1943	4142	6085	SO:0001819	synonymous_variant	54540							g.chr5:176951655G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1827C>T	5.37:g.176951655G>A						FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000514747.1_Silent_p.S609S	p.S235S			Q6IPW0	Q6IPW0_HUMAN			9	3534	-			285					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.705C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224585	0.01530	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-7.75	0.01236	.	.	.	.	.	.	.	.	.	.	.	0.36557	D	0.872203	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2505	2.8772	0.05635	0.2684:0.154:0.4011:0.1765	.	.	.	.	X	295	.	.	R	-	1	2	FAM193B	176884261	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-0.160000	0.10041	-1.158000	0.02811	-0.459000	0.05422	CGA		0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		13	195	0	0	0	1	0	13	195					A	176951655	G	A	176951655	2	1	79	1	0	0	0	0	0	0	0	1	5546	1103	39	1		1	FAM193B	5	176951655	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11644	176951655	3963605	6906	17223											
FAM193B	54540	broad.mit.edu	37	chr5	176959576	176959576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccctcatctgcctcGcagggctggggcagctggca	13	17	2	0	rs536461643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000514747.1	-	5	1191	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Silent_p.C268C	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	381						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617													G|||	5	0.000998403	0.0	0.0	5008	,	,		19912	0.0		0.0	False		,,,				2504	0.0051					ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(802-804)tgC>tgT		family with sequence similarity 193, member B							20	24	23					5																	176959576		2008	4183	6191	SO:0001819	synonymous_variant	54540							g.chr5:176959576G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1143C>T	5.37:g.176959576G>A						FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000514747.1_Silent_p.C381C	p.C268C			Q6IPW0	Q6IPW0_HUMAN			6	2362	-			406					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.804C>T	CCDS54954.1																																																																																				0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		8	47	0	0	0	1	0	8	47					A	176959576	G	A	176959576	2	1	79	1	0	0	0	0	0	0	0	1	5546	1079	38	1		1	FAM193B	5	176959576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7921	176959576	3955684	6907	17224											
B4GALT7	11285	broad.mit.edu	37	chr5	177034312	177034312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgcacaggttcaaccgGgcagcgctcatcaacgtggg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	141	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTCAACCGGGCAGCGCTCA	0.647											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(421-423)cgG>cgA		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							60	47	51					5																	177034312		2203	4300	6503	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177034312G>A	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.423G>A	5.37:g.177034312G>A			OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1935		p.R141R	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	534	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	141					B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.423G>A	CCDS4429.1																																																																																				0.647	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		18	61	0	0	0	1	0	18	61					A	177034312	G	A	177034312	2	1	79	1	0	0	0	0	0	0	0	1	1277	1219	43	2		2	B4GALT7	5	177034312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74736	177034312	3880948	6908	17225											
PROP1	5626	broad.mit.edu	37	chr5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggggcagggcagatggCcggcaggggctgggtgcaag	24	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	204					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(610-612)gGc>gAc		PROP paired-like homeobox 1							32	32	32					5																	177419780		2203	4296	6499	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419780C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.611G>A	5.37:g.177419780C>T	ENSP00000311290:p.Gly204Asp						p.G204D	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	919	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	204						Missense_Mutation	SNP	ENST00000308304.2	37	c.611G>A	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	7.249	0.602783	0.13939	.	.	ENSG00000175325	ENST00000308304	D	0.88975	-2.45	2.22	1.27	0.21489	.	0.877909	0.09470	N	0.797763	T	0.80281	0.4594	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.67522	-0.5649	10	0.38643	T	0.18	-0.2366	5.7454	0.18118	0.318:0.682:0.0:0.0	.	204	O75360	PROP1_HUMAN	D	204	ENSP00000311290:G204D	ENSP00000311290:G204D	G	-	2	0	PROP1	177352386	0.000000	0.05858	0.386000	0.26170	0.021000	0.10359	-0.868000	0.04236	0.455000	0.26910	0.563000	0.77884	GGC		0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		29	73	0	0	0	1	0	29	73					T	177419780	C	T	177419780	3	4	79	1	0	0	0	0	1	0	0	0	12604	739	26	2	73	2	PROP1	5	177419780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385468	177419780	3495480	6909	17226											
PROP1	5626	broad.mit.edu	37	chr5	177421242	177421242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtgcggtggcggcgCcgggagtgcgggcggcccct	22	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(205-207)cgG>cgA		PROP paired-like homeobox 1							36	39	38					5																	177421242		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421242C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.207G>A	5.37:g.177421242C>T							p.R69R	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	515	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69						Silent	SNP	ENST00000308304.2	37	c.207G>A	CCDS4430.1																																																																																				0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		75	361	0	0	0	1	0	75	361					T	177421242	C	T	177421242	2	4	79	1	0	0	0	0	0	0	0	1	12604	726	26	2		2	PROP1	5	177421242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	177421242	3494018	6910	17227											
N4BP3	23138	broad.mit.edu	37	chr5	177546611	177546611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccccaggccctgctggCattgccatgggcagcgtggg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	9						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTGCTGGCATTGCCATGG	0.652																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(25-27)ggC>ggT		NEDD4 binding protein 3							34	38	37					5																	177546611		2203	4300	6503	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177546611C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.27C>T	5.37:g.177546611C>T							p.G9G	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	386	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	9					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.27C>T	CCDS34307.1																																																																																				0.652	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		88	322	0	0	0	1	0	88	322					T	177546611	C	T	177546611	2	4	79	1	0	0	0	0	0	0	0	1	10154	697	25	2		2	N4BP3	5	177546611	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125369	177546611	3368649	6911	17228											
N4BP3	23138	broad.mit.edu	37	chr5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctggcgtcccacaaaGgccagaagctgtggcgcagc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	139						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCACAAAGGCCAGAAGCT	0.677																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(415-417)Ggc>Tgc		NEDD4 binding protein 3							36	37	37					5																	177547263		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177547263G>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.415G>T	5.37:g.177547263G>T	ENSP00000274605:p.Gly139Cys						p.G139C	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	774	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	139					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.415G>T	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433364	0.62844	.	.	ENSG00000145911	ENST00000274605	T	0.00545	6.67	5.13	5.13	0.70059	.	0.305258	0.39544	N	0.001337	T	0.01454	0.0047	L	0.43152	1.355	0.41753	D	0.989678	D	0.89917	1.0	D	0.87578	0.998	T	0.73129	-0.4080	10	0.66056	D	0.02	-36.6317	13.9377	0.64034	0.0:0.0:1.0:0.0	.	139	O15049	N4BP3_HUMAN	C	139	ENSP00000274605:G139C	ENSP00000274605:G139C	G	+	1	0	N4BP3	177479869	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.502000	0.60400	2.668000	0.90789	0.655000	0.94253	GGC		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		28	242	1	0	1.17739e-12	1	1.26592e-12	28	242					T	177547263	G	T	177547263	3	4	79	1	0	0	0	0	1	0	0	0	10154	1000	35	3	421	3	N4BP3	5	177547263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	177547263	3367997	6912	17229											
N4BP3	23138	broad.mit.edu	37	chr5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtagttttggtcgcagtcCtggtactggccctagcccct	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	201						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCGCAGTCCTGGTACTGGC	0.677																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(601-603)cCt>cAt		NEDD4 binding protein 3							52	56	55					5																	177547450		2203	4299	6502	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177547450C>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.602C>A	5.37:g.177547450C>A	ENSP00000274605:p.Pro201His						p.P201H	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	961	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	201					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.602C>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018433	0.19355	.	.	ENSG00000145911	ENST00000274605	T	0.52526	0.66	4.12	4.12	0.48240	.	0.545059	0.20739	N	0.086573	T	0.34366	0.0895	N	0.19112	0.55	0.42593	D	0.993259	B	0.32693	0.38	B	0.37198	0.243	T	0.09509	-1.0671	10	0.15066	T	0.55	-11.2901	14.6728	0.68956	0.0:1.0:0.0:0.0	.	201	O15049	N4BP3_HUMAN	H	201	ENSP00000274605:P201H	ENSP00000274605:P201H	P	+	2	0	N4BP3	177480056	0.006000	0.16342	0.719000	0.30619	0.142000	0.21351	1.188000	0.32102	2.598000	0.87819	0.655000	0.94253	CCT		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		149	479	1	0	4.44197e-71	1	5.64539e-71	149	479					A	177547450	C	A	177547450	3	1	79	1	0	0	0	0	1	0	0	0	10154	681	24	3	608	3	N4BP3	5	177547450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	177547450	3367810	6913	17230											
RMND5B	64777	broad.mit.edu	37	chr5	177569660	177569660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagatcaaagatacggtGcagaaactggcttcggacca	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATACGGTGCAGAAACTGG	0.577																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(214-216)gtG>gtA		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							111	108	109					5																	177569660		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177569660G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.216G>A	5.37:g.177569660G>A						RMND5B_ENST00000313386.4_Silent_p.V72V|RMND5B_ENST00000542098.1_Silent_p.V59V	p.V72V			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	567	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	72					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.216G>A	CCDS4431.1																																																																																				0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		184	494	0	0	0	1	0	184	494					A	177569660	G	A	177569660	2	1	79	1	0	0	0	0	0	0	0	1	13448	1306	46	2		2	RMND5B	5	177569660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22210	177569660	3345600	6914	17231											
HNRNPAB	85007	broad.mit.edu	37	chr5	177633812	177633812	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgaagaaggacccggTgaagaaaatcttcgttgggg	15	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177633812T>C	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.V153A	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AAGGACCCGGTGAAGAAAATC	0.522																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(457-459)gTg>gCg		heterogeneous nuclear ribonucleoprotein A/B							74	82	79					5																	177633812		2203	4300	6503	SO:0001628	intergenic_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177633812T>C	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177633812T>C						HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.V153A|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A	p.V153A	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			4	715	+			152			RRM 1.|RRM 2.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.458T>C	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557993	0.45590	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.12	3.95	0.45737	.	0.059319	0.64402	D	0.000002	D	0.84515	0.5489	N	0.14661	0.345	0.50632	D	0.999884	B;B;B	0.22983	0.024;0.04;0.078	B;B;B	0.29862	0.015;0.034;0.108	T	0.78565	-0.2155	10	0.51188	T	0.08	.	9.1521	0.36969	0.0:0.0881:0.0:0.9119	.	153;153;153	D6RD18;Q99729-3;Q99729-2	.;.;.	A	153	ENSP00000351108:V153A;ENSP00000422501:V153A;ENSP00000348093:V153A;ENSP00000427110:V153A;ENSP00000423495:V153A;ENSP00000427465:V153A;ENSP00000425031:V153A	ENSP00000348093:V153A	V	+	2	0	HNRNPAB	177566418	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.560000	0.82277	0.774000	0.33427	0.260000	0.18958	GTG		0.522	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		13	599	0	0	0	1	0	13	599					C	177633812	T	C	177633812	1	2	79	0	1	0	0	0	0	0	0	0	7291	1696	59	4		4	HNRNPAB	5	177633812	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64152	177633812	3281448	6915	17232											
ZNF354A	6940	broad.mit.edu	37	chr5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacatacaaatctactttCtaggggtcctcttcgatatg	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1816-1818)taG>taT		zinc finger protein 354A							59	62	61					5																	178139061		2202	4298	6500	SO:0001578	stop_lost	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139061C>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1818G>T	5.37:g.178139061C>A							p.*606Y	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	2015	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	0					Q9UNJ8	Nonstop_Mutation	SNP	ENST00000335815.2	37	c.1818G>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.017445	0.00418	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.28	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6622	0.17674	0.0:0.6309:0.1647:0.2043	.	.	.	.	Y	606	.	.	X	-	3	2	ZNF354A	178071667	.	.	0.380000	0.26093	0.014000	0.08584	.	.	0.542000	0.28846	-0.122000	0.15005	TAG		0.348	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		59	269	1	0	9.10829e-22	1	1.02804e-21	59	269					A	178139061	C	A	178139061	4	1	79	1	0	0	0	0	0	0	0	0	17917	924	32	3	3	3	ZNF354A	5	178139061	Nonstop_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	505249	178139061	2776199	6916	17233											
ZNF354A	6940	broad.mit.edu	37	chr5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcattacaattataAaacttctctccagtatgaat	2	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	437				F -> Y (in Ref. 1; BAA25182). {ECO:0000305}.	regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TACAATTATAAAACTTCTCTC	0.363																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1309-1311)ttT>ttG		zinc finger protein 354A							77	82	80					5																	178139568		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139568A>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1311T>G	5.37:g.178139568A>C	ENSP00000337122:p.Phe437Leu						p.F437L	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1508	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	437	F -> Y (in Ref. 1; BAA25182).				Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1311T>G	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058668	0.36277	.	.	ENSG00000169131	ENST00000335815	T	0.16897	2.31	4.71	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257680	0.20616	N	0.088869	T	0.03564	0.0102	N	0.00459	-1.475	0.32908	D	0.514063	B	0.06786	0.001	B	0.06405	0.002	T	0.19451	-1.0305	10	0.42905	T	0.14	-4.5652	5.5901	0.17297	0.3554:0.4687:0.1759:0.0	.	437	O60765	Z354A_HUMAN	L	437	ENSP00000337122:F437L	ENSP00000337122:F437L	F	-	3	2	ZNF354A	178072174	0.001000	0.12720	0.999000	0.59377	0.794000	0.44872	-0.793000	0.04589	0.062000	0.16340	-0.375000	0.07067	TTT		0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		100	459	0	0	0	1	0	100	459					C	178139568	A	C	178139568	3	2	79	1	0	0	0	0	1	0	0	0	17917	11	1	4	510	4	ZNF354A	5	178139568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	507	178139568	2775692	6917	17234											
ZNF354A	6940	broad.mit.edu	37	chr5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaggagacgccagaacCgtctttctccacctcccagg	10	14	2	3	rs199561646		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACGCCAGAACCGTCTTTCTCC	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.001		0.0	False		,,,				2504	0.0					ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(235-237)Ggt>Agt		zinc finger protein 354A							151	144	147					5																	178152398		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152398C>T	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.235G>A	5.37:g.178152398C>T	ENSP00000337122:p.Gly79Ser						p.G79S	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	432	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	79			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.235G>A	CCDS4438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.542	0.100574	0.08731	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.06449	3.3;6.03	3.25	0.274	0.15654	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	9	0.10902	T	0.67	-1.4818	7.6338	0.28255	0.0:0.3221:0.0:0.6779	.	79	O60765	Z354A_HUMAN	S	79	ENSP00000337122:G79S;ENSP00000429675:G79S	ENSP00000337122:G79S	G	-	1	0	ZNF354A	178085004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.242000	0.02908	-0.220000	0.09988	-1.347000	0.01240	GGT		0.527	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		141	682	0	0	0	1	0	141	682					T	178152398	C	T	178152398	3	4	79	1	0	0	0	0	1	0	0	0	17917	652	23	1	1590	1	ZNF354A	5	178152398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12830	178152398	2762862	6918	17235											
ZNF354B	117608	broad.mit.edu	37	chr5	178310195	178310195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttaaatgtaaagaatgtTtaaaagctttcagccaaagt	6	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTTTAAAAGCTTT	0.343																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(742-744)Tta>Cta		zinc finger protein 354B							65	76	72					5																	178310195		2202	4292	6494	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310195T>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.742T>C	5.37:g.178310195T>C							p.L248L	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	968	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	248					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.742T>C	CCDS4439.1																																																																																				0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		172	511	0	0	0	1	0	172	511					C	178310195	T	C	178310195	2	2	79	1	0	0	0	0	0	0	0	1	17918	1838	64	4		4	ZNF354B	5	178310195	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157797	178310195	2605065	6919	17236											
ZNF354B	117608	broad.mit.edu	37	chr5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattattcatgagcgaattcAtactggagaaaaaccatgta	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGAATTCATACTGGAGAA	0.378																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1378-1380)cAt>cCt		zinc finger protein 354B							80	81	80					5																	178310832		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310832A>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1379A>C	5.37:g.178310832A>C	ENSP00000327143:p.His460Pro						p.H460P	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1605	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	460					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1379A>C	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276777	0.40294	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74997	0.3790	H	0.95079	3.62	0.39204	D	0.963207	B	0.29886	0.26	B	0.34418	0.182	T	0.75434	-0.3319	9	0.87932	D	0	-51.6748	8.1574	0.31178	0.7958:0.2042:0.0:0.0	.	460	Q96LW1	Z354B_HUMAN	P	460	ENSP00000327143:H460P	ENSP00000327143:H460P	H	+	2	0	ZNF354B	178243438	1.000000	0.71417	0.704000	0.30370	0.600000	0.36913	6.232000	0.72313	0.470000	0.27294	0.454000	0.30748	CAT		0.378	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		116	381	0	0	0	1	0	116	381					C	178310832	A	C	178310832	3	2	79	1	0	0	0	0	1	0	0	0	17918	217	8	4	1393	4	ZNF354B	5	178310832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	637	178310832	2604428	6920	17237											
ZFP2	80108	broad.mit.edu	37	chr5	178358719	178358719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctataagtgtaatgtatgTgggaaacacttcattgaacg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000520301.1_Silent_p.C135C|ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	135					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTAATGTATGTGGGAAACACT	0.403																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(403-405)tgT>tgC		ZFP2 zinc finger protein							60	64	63					5																	178358719		2203	4300	6503	SO:0001819	synonymous_variant	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358719T>C	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.405T>C	5.37:g.178358719T>C						ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C	p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	935	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	135					A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	c.405T>C	CCDS4440.1																																																																																				0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		88	265	0	0	0	1	0	88	265					C	178358719	T	C	178358719	2	2	79	1	0	0	0	0	0	0	0	1	17694	1702	59	4		4	ZFP2	5	178358719	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47887	178358719	2556541	6921	17238											
GRM6	2916	broad.mit.edu	37	chr5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccaaagaagatggGcacgaatgccagccagatga	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000517717.1	-	10	2439	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P801T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	801					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAAGATGGGCACGAATGCC	0.577																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2401-2403)Ccc>Acc		glutamate receptor, metabotropic 6							103	86	91					5																	178409946		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178409946G>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2401C>A	5.37:g.178409946G>T	ENSP00000430767:p.Pro801Thr					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P801T	p.P801T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2579	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	801						Missense_Mutation	SNP	ENST00000517717.1	37	c.2401C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124804	0.77436	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.90563	-2.69;-2.69	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96577	0.8883	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97652	1.0155	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.0:1.0:0.0	.	801;95	O15303;Q5HYM4	GRM6_HUMAN;.	T	801	ENSP00000231188:P801T;ENSP00000430767:P801T	ENSP00000231188:P801T	P	-	1	0	GRM6	178342552	1.000000	0.71417	0.990000	0.47175	0.714000	0.41099	9.661000	0.98601	2.387000	0.81309	0.313000	0.20887	CCC		0.577	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			66	339	1	0	3.07281e-33	1	3.63882e-33	66	339					T	178409946	G	T	178409946	3	4	79	1	0	0	0	0	1	0	0	0	6831	1203	42	3	240	3	GRM6	5	178409946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51227	178409946	2505314	6922	17239											
GRM6	2916	broad.mit.edu	37	chr5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccaacagcaggggaCgcccttcaccatcttcttcc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000517717.1	-	9	1638	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V534I			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	534					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCAGGGGACGCCCTTCACC	0.682																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1600-1602)Gtc>Atc		glutamate receptor, metabotropic 6							44	38	40					5																	178413655		2203	4299	6502	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413655C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1600G>A	5.37:g.178413655C>T	ENSP00000430767:p.Val534Ile					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V534I	p.V534I	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1778	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	534						Missense_Mutation	SNP	ENST00000517717.1	37	c.1600G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340760	0.60963	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.89649	0.6776	N	0.20685	0.6	0.49798	D	0.999821	D;B	0.67145	0.996;0.11	D;B	0.76071	0.987;0.022	D	0.90627	0.4564	9	0.51188	T	0.08	.	15.3541	0.74415	0.0:1.0:0.0:0.0	.	690;534	E7EX65;O15303	.;GRM6_HUMAN	I	690;534;534	ENSP00000231188:V534I;ENSP00000430767:V534I	ENSP00000231188:V534I	V	-	1	0	GRM6	178346261	0.998000	0.40836	0.987000	0.45799	0.878000	0.50629	3.974000	0.56852	2.281000	0.76405	0.462000	0.41574	GTC		0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			89	284	0	0	0	1	0	89	284					T	178413655	C	T	178413655	3	4	79	1	0	0	0	0	1	0	0	0	6831	536	19	1	1045	1	GRM6	5	178413655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3709	178413655	2501605	6923	17240											
GRM6	2916	broad.mit.edu	37	chr5	178413684	178413684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttcttccgctcccccGgcccgcagggcaggctgcac	10	20	2	0	rs143491269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413684G>T	ENST00000517717.1	-	9	1609	c.1571C>A	c.(1570-1572)cCg>cAg	p.P524Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P524Q			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	524					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGCTCCCCCGGCCCGCAGGG	0.677																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1570-1572)cCg>cAg		glutamate receptor, metabotropic 6							32	31	31					5																	178413684		2201	4297	6498	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413684G>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1571C>A	5.37:g.178413684G>T	ENSP00000430767:p.Pro524Gln					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P524Q	p.P524Q	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1749	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	524						Missense_Mutation	SNP	ENST00000517717.1	37	c.1571C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811775	0.70797	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90504	-2.68;-2.68	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95847	0.8648	M	0.90309	3.105	0.47245	D	0.999363	D;P	0.89917	1.0;0.463	D;B	0.80764	0.994;0.339	D	0.96038	0.9022	9	0.49607	T	0.09	.	15.3541	0.74415	0.0:0.0:1.0:0.0	.	680;524	E7EX65;O15303	.;GRM6_HUMAN	Q	680;524;524	ENSP00000231188:P524Q;ENSP00000430767:P524Q	ENSP00000231188:P524Q	P	-	2	0	GRM6	178346290	1.000000	0.71417	0.865000	0.33974	0.791000	0.44710	7.825000	0.86693	2.281000	0.76405	0.462000	0.41574	CCG		0.677	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			84	252	1	0	2.84431e-33	1	3.36965e-33	84	252					T	178413684	G	T	178413684	3	4	79	1	0	0	0	0	1	0	0	0	6831	1116	39	3	1074	3	GRM6	5	178413684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	178413684	2501576	6924	17241											
GRM6	2916	broad.mit.edu	37	chr5	178413731	178413731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcacctcgtgggggtcGccagaccactgcagggcctc	16	14	0	1	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000517717.1	-	9	1562	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G508G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	508					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.G508G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTGGGGGTCGCCAGACCACT	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15902	0.0		0.0	False		,,,				2504	0.0					ENST00000231188.5																			1	Substitution - coding silent(1)	p.G508G(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1522-1524)ggC>ggT		glutamate receptor, metabotropic 6		G		0,4406		0,0,2203	29	32	31		1524	-4.6	0	5	dbSNP_134	31	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	GRM6	NM_000843.3		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		508/878	178413731	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413731G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1524C>T	5.37:g.178413731G>A						RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G508G	p.G508G	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1702	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	508						Silent	SNP	ENST00000517717.1	37	c.1524C>T	CCDS4442.1																																																																																				0.697	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			34	255	0	0	0	1	0	34	255					A	178413731	G	A	178413731	2	1	79	1	0	0	0	0	0	0	0	1	6831	1074	38	1		1	GRM6	5	178413731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	178413731	2501529	6925	17242											
ZNF354C	30832	broad.mit.edu	37	chr5	178506423	178506423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaactctataaatgCggcgaatgtgagaaggcctt	13	6	1	2	rs373125160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	330					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.C330C(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTATAAATGCGGCGAATGTG	0.433																																						ENST00000315475.6																			1	Substitution - coding silent(1)	p.C330C(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(988-990)tgC>tgT		zinc finger protein 354C		C		0,4406		0,0,2203	171	181	178		990	0.2	0.2	5		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF354C	NM_014594.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		330/555	178506423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506423C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.990C>T	5.37:g.178506423C>T							p.C330C	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1296	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	330					Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.990C>T	CCDS4443.1																																																																																				0.433	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			196	1060	0	0	0	1	0	196	1060					T	178506423	C	T	178506423	2	4	79	1	0	0	0	0	0	0	0	1	17919	776	27	1		1	ZNF354C	5	178506423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92692	178506423	2408837	6926	17243											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatgcagcgcacggagCgcacctgcatgcctgtccgc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2812-2814)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							106	105	106					5																	178552119		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552119C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2813G>A	5.37:g.178552119C>T	ENSP00000251582:p.Arg938His						p.R938H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2914	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	938			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2813G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000087116	ENST00000251582	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000026	D	0.94578	0.8253	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	938	O95450	ATS2_HUMAN	H	938	ENSP00000251582:R938H	ENSP00000251582:R938H	R	-	2	0	ADAMTS2	178484725	1.000000	0.71417	0.941000	0.38009	0.476000	0.33039	7.551000	0.82182	2.538000	0.85594	0.655000	0.94253	CGC		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		63	1033	0	0	0	1	0	63	1033					T	178552119	C	T	178552119	3	4	79	1	0	0	0	0	1	0	0	0	265	768	27	1	838	1	ADAMTS2	5	178552119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45696	178552119	2363141	6927	17244											
ADAMTS2	9509	broad.mit.edu	37	chr5	178553085	178553085	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagccacggtgtaccatCttgtggtccagcctccggcg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	888	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2662-2664)aaG>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 2							83	86	85					5																	178553085		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178553085C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2664G>A	5.37:g.178553085C>T							p.K888K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	18	2765	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	888			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2664G>A	CCDS4444.1																																																																																				0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		131	725	0	0	0	1	0	131	725					T	178553085	C	T	178553085	2	4	79	1	0	0	0	0	0	0	0	1	265	912	32	2		2	ADAMTS2	5	178553085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	966	178553085	2362175	6928	17245											
RUFY1	80230	broad.mit.edu	37	chr5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagtcggctctgagcctgGgccgcagcctggatgcggac	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000319449.4	+	2	415	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	135					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(403-405)Ggc>Tgc		RUN and FYVE domain containing 1							64	54	58					5																	178987118		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178987118G>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.403G>T	5.37:g.178987118G>T	ENSP00000325594:p.Gly135Cys	HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000319449.4_Missense_Mutation_p.G135C	p.G135C			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	403	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	135					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.403G>T	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494453|5.494453	0.96339|0.96339	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047726|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82051|0.82051	-0.0649|-0.0649	10|5	0.87932|.	D|.	0|.	-17.8433|-17.8433	19.5387|19.5387	0.95266|0.95266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q96T51|.	RUFY1_HUMAN|.	C|C	135;135;27;27|92	ENSP00000325594:G135C;ENSP00000366200:G135C;ENSP00000390025:G27C;ENSP00000377087:G27C|.	ENSP00000325594:G135C|.	G|W	+|+	1|3	0|0	RUFY1|RUFY1	178919724|178919724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.699000|9.699000	0.98703|0.98703	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.577	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		37	109	1	0	5.04308e-16	1	5.52873e-16	37	109					T	178987118	G	T	178987118	3	4	79	1	0	0	0	0	1	0	0	0	13788	1232	43	3	409	3	RUFY1	5	178987118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434033	178987118	1928142	6929	17246											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtaagcaccaccgcttgctCctgctgtagaattcaagaag	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1096-1098)gGa>gAa		heterogeneous nuclear ribonucleoprotein H1 (H)							97	95	96					5																	179044072		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044072C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1097G>A	5.37:g.179044072C>T	ENSP00000349168:p.Gly366Glu					HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E	p.G366E			P31943	HNRH1_HUMAN			9	2632	-			366			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.1097G>A	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.85|13.85	2.359804|2.359804	0.41801|0.41801	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	.|T;T;T;T;T;T;T	.|0.25414	.|2.86;2.86;2.86;2.82;1.8;1.8;1.8	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.99999|0.99999	.|B;B	.|0.24675	.|0.091;0.109	.|B;B	.|0.29077	.|0.073;0.098	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.24483	.|T	.|0.36	-8.856|-8.856	11.3327|11.3327	0.49485|0.49485	0.14:0.7246:0.1354:0.0|0.14:0.7246:0.1354:0.0	.|.	.|366;366	.|E9PCY7;P31943	.|.;HNRH1_HUMAN	K|E	241|366;366;366;366;366;96;122	.|ENSP00000377082:G366E;ENSP00000397797:G366E;ENSP00000349168:G366E;ENSP00000327539:G366E;ENSP00000426275:G366E;ENSP00000444220:G96E;ENSP00000429481:G122E	.|ENSP00000327539:G366E	E|G	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976678|178976678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.930000|3.930000	0.56522|0.56522	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.363	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		137	453	0	0	0	1	0	137	453					T	179044072	C	T	179044072	3	4	79	1	0	0	0	0	1	0	0	0	7296	855	30	2	268	2	HNRNPH1	5	179044072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56954	179044072	1871188	6930	17247											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044893	179044893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagagccaccatccccGtatctgtgatcagacattcc	7	13	2	3	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	276	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACCATCCCCGTATCTGTGAT	0.418													G|||	7	0.00139776	0.0	0.0014	5008	,	,		22274	0.0		0.005	False		,,,				2504	0.001					ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(826-828)taC>taT		heterogeneous nuclear ribonucleoprotein H1 (H)		G		1,4405	2.1+/-5.4	0,1,2202	141	122	129		828	-8.2	0.5	5	dbSNP_132	129	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	HNRNPH1	NM_005520.2		0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076		276/450	179044893	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044893G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.828C>T	5.37:g.179044893G>A						HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y	p.Y276Y			P31943	HNRH1_HUMAN			7	2363	-			276			2 X 16 AA Gly-rich approximate repeats.		B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	c.828C>T	CCDS4446.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	6.690	0.495996	0.12762	2.27E-4	0.003023	ENSG00000169045	ENST00000521173	.	.	.	5.59	-8.16	0.01061	.	.	.	.	.	T	0.66799	0.2826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-7.2366	20.0627	0.97684	0.7951:0.0:0.2049:0.0	.	.	.	.	M	151	.	.	T	-	2	0	HNRNPH1	178977499	0.043000	0.20138	0.496000	0.27539	0.971000	0.66376	-0.373000	0.07494	-1.706000	0.01404	-0.237000	0.12165	ACG		0.418	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		101	270	0	0	0	1	0	101	270					A	179044893	G	A	179044893	2	1	79	1	0	0	0	0	0	0	0	1	7296	1140	40	1		1	HNRNPH1	5	179044893	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	821	179044893	1870367	6931	17248											
MAML1	9794	broad.mit.edu	37	chr5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagactctctcaacaaaaagCgtctggctgactccagcctt	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACAAAAAGCGTCTGGCTGA	0.557																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(568-570)Cgt>Tgt		mastermind-like 1 (Drosophila)							36	39	38					5																	179192579		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192579C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.568C>T	5.37:g.179192579C>T	ENSP00000292599:p.Arg190Cys					MAML1_ENST00000503050.1_3'UTR	p.R190C	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	831	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	190						Missense_Mutation	SNP	ENST00000292599.3	37	c.568C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366053	0.11352	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40756	1.02	4.9	-0.496	0.12027	.	0.143880	0.49305	N	0.000144	T	0.09818	0.0241	N	0.00521	-1.4	0.30173	N	0.801095	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12344	-1.0551	10	0.35671	T	0.21	-0.4315	2.387	0.04368	0.1236:0.1414:0.1289:0.6062	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	C	190;227	ENSP00000292599:R190C	ENSP00000292599:R190C	R	+	1	0	MAML1	179125185	0.997000	0.39634	0.936000	0.37596	0.499000	0.33736	1.457000	0.35212	-0.326000	0.08564	-0.505000	0.04504	CGT		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		67	151	0	0	0	1	0	67	151					T	179192579	C	T	179192579	3	4	79	1	0	0	0	0	1	0	0	0	9246	768	27	1	574	1	MAML1	5	179192579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147686	179192579	1722681	6932	17249											
MAML1	9794	broad.mit.edu	37	chr5	179193073	179193073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacacctctggtcagccCcgggcggacaatcccagtcc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTCAGCCCCGGGCGGACA	0.622																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1060-1062)ccC>ccA		mastermind-like 1 (Drosophila)							35	37	36					5																	179193073		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193073C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1062C>A	5.37:g.179193073C>A						MAML1_ENST00000503050.1_3'UTR	p.P354P	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1325	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	354						Silent	SNP	ENST00000292599.3	37	c.1062C>A	CCDS34315.1																																																																																				0.622	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		66	319	1	0	6.07242e-22	1	6.85844e-22	66	319					A	179193073	C	A	179193073	2	1	79	1	0	0	0	0	0	0	0	1	9246	610	22	3		3	MAML1	5	179193073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	494	179193073	1722187	6933	17250											
MAML1	9794	broad.mit.edu	37	chr5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtattgcccagtcagGgcccaggaggggcctcagag	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGTCAGGGCCCAGGAGG	0.642																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1156-1158)Ggc>Agc		mastermind-like 1 (Drosophila)							41	45	43					5																	179193167		2203	4299	6502	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193167G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1156G>A	5.37:g.179193167G>A	ENSP00000292599:p.Gly386Ser					MAML1_ENST00000503050.1_3'UTR	p.G386S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1419	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	386						Missense_Mutation	SNP	ENST00000292599.3	37	c.1156G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571803	0.45798	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.27402	1.67	4.88	4.01	0.46588	.	0.078647	0.53938	D	0.000052	T	0.41880	0.1178	M	0.63843	1.955	0.37548	D	0.918591	D;D	0.76494	0.997;0.999	D;D	0.67103	0.949;0.928	T	0.49925	-0.8887	10	0.09084	T	0.74	-19.2223	6.9821	0.24708	0.1549:0.0:0.7039:0.1412	.	423;386	Q59GH4;Q92585	.;MAML1_HUMAN	S	386;423	ENSP00000292599:G386S	ENSP00000292599:G386S	G	+	1	0	MAML1	179125773	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.309000	0.59135	1.047000	0.40274	0.305000	0.20034	GGC		0.642	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		58	462	0	0	0	1	0	58	462					A	179193167	G	A	179193167	3	1	79	1	0	0	0	0	1	0	0	0	9246	1232	43	2	1162	2	MAML1	5	179193167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	179193167	1722093	6934	17251											
MAML1	9794	broad.mit.edu	37	chr5	179201461	179201461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacctgaaaatgtctagCccgcaattctcccaggcagt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGTCTAGCCCGCAATTCT	0.612																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2632-2634)agC>agT		mastermind-like 1 (Drosophila)							34	37	36					5																	179201461		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201461C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2634C>T	5.37:g.179201461C>T						MAML1_ENST00000503050.1_Intron	p.S878S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2897	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	878						Silent	SNP	ENST00000292599.3	37	c.2634C>T	CCDS34315.1																																																																																				0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		79	216	0	0	0	1	0	79	216					T	179201461	C	T	179201461	2	4	79	1	0	0	0	0	0	0	0	1	9246	738	26	2		2	MAML1	5	179201461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8294	179201461	1713799	6935	17252											
MAML1	9794	broad.mit.edu	37	chr5	179201852	179201852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagtggatgagtgatTtggacgacctgttagggtct	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAGTGATTTGGACGACCT	0.463																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(3025-3027)Ttg>Ctg		mastermind-like 1 (Drosophila)							122	113	116					5																	179201852		2202	4300	6502	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201852T>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.3025T>C	5.37:g.179201852T>C						MAML1_ENST00000503050.1_Intron	p.L1009L	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	3288	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1009						Silent	SNP	ENST00000292599.3	37	c.3025T>C	CCDS34315.1																																																																																				0.463	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		118	629	0	0	0	1	0	118	629					C	179201852	T	C	179201852	2	2	79	1	0	0	0	0	0	0	0	1	9246	1838	64	4		4	MAML1	5	179201852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	391	179201852	1713408	6936	17253											
MGAT4B	11282	broad.mit.edu	37	chr5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcgaggttctgtttggTcctccacctgtgggccgggg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000292591.7	-	7	1077	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T258A	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	243					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTGGTCCTCCACCTG	0.627																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(772-774)Acc>Gcc		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							101	80	87					5																	179227252		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179227252T>C	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.727A>G	5.37:g.179227252T>C	ENSP00000292591:p.Thr243Ala					MGAT4B_ENST00000292591.7_Missense_Mutation_p.T243A	p.T258A	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1658	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	243					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.772A>G	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657724|4.657724	0.88154|0.88154	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000518980;ENST00000520875;ENST00000518867|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69922|0.69922	0.3165|0.3165	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;B;P	.|0.76494	.|0.997;0.999;0.087;0.928	.|D;D;B;P	.|0.83275	.|0.994;0.996;0.117;0.554	T|T	0.75972|0.75972	-0.3129|-0.3129	5|10	.|0.49607	.|T	.|0.09	-26.3918|-26.3918	14.5904|14.5904	0.68359|0.68359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|243;258;98;243	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	G|A	68;52;41;54|258;243;98	.|ENSP00000338487:T258A;ENSP00000292591:T243A;ENSP00000427995:T98A	.|ENSP00000292591:T243A	D|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179159858|179159858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.003000|8.003000	0.88520|0.88520	1.852000|1.852000	0.53769|0.53769	0.448000|0.448000	0.29417|0.29417	GAC|ACC		0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		27	624	0	0	0	1	0	27	624					C	179227252	T	C	179227252	3	2	79	1	0	0	0	0	1	0	0	0	9587	1667	58	4	955	4	MGAT4B	5	179227252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25400	179227252	1688008	6937	17254											
SQSTM1	8878	broad.mit.edu	37	chr5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A													ccccgtctctccagagagttCcagcacagaggagaagagca					rs202119215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	276	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(826-828)tCc>tAc		sequestosome 1							49	52	51					5																	179260104		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260104C>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.827C>A	5.37:g.179260104C>A	ENSP00000374455:p.Ser276Tyr					SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y	p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1005	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	276			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.827C>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486551	0.04352	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;2.36;-1.63	5.0	2.23	0.28157	.	1.296320	0.04736	N	0.421909	D	0.89911	0.6852	M	0.66939	2.045	0.37016	D	0.895976	P;D	0.65815	0.901;0.995	B;D	0.75484	0.444;0.986	T	0.77752	-0.2470	10	0.34782	T	0.22	-14.1846	10.3902	0.44164	0.0:0.7833:0.0:0.2167	.	276;276	Q13501;E7EMC7	SQSTM_HUMAN;.	Y	192;276;132;192;276;192	ENSP00000366128:S192Y;ENSP00000374455:S276Y;ENSP00000385553:S192Y;ENSP00000424477:S276Y;ENSP00000353944:S192Y	ENSP00000353944:S192Y	S	+	2	0	SQSTM1	179192710	0.034000	0.19679	0.125000	0.21846	0.141000	0.21300	2.889000	0.48601	0.233000	0.21120	-0.424000	0.05967	TCC		0.602	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			66	190	1	0	7.46257e-40	1	9.03299e-40	66	190					A	179260104	C	A	179260104	3	1	79	1	0	0	0	0	1	0	0	0	15182	855	30	3	849	3	SQSTM1	5	179260104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32852	179260104	1655156	6938	17255	105	2									
SQSTM1	8878	broad.mit.edu	37	chr5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T													cgtctctccagagagttccaGcacagaggagaagagcagct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(829-831)aGc>aTc		sequestosome 1							48	51	50					5																	179260107		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260107G>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.830G>T	5.37:g.179260107G>T	ENSP00000374455:p.Ser277Ile					SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I	p.S277I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1008	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	277			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.830G>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524800	0.44969	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.83250	-1.7;-1.69;-1.7;2.29;-1.7	5.0	4.12	0.48240	.	0.387327	0.34088	N	0.004266	D	0.82318	0.5011	M	0.62723	1.935	0.35179	D	0.77226	B;P	0.50943	0.229;0.94	B;P	0.44860	0.087;0.462	D	0.87969	0.2735	10	0.66056	D	0.02	-13.9965	13.5979	0.62002	0.0:0.157:0.843:0.0	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	I	193;277;133;193;277;193	ENSP00000366128:S193I;ENSP00000374455:S277I;ENSP00000385553:S193I;ENSP00000424477:S277I;ENSP00000353944:S193I	ENSP00000353944:S193I	S	+	2	0	SQSTM1	179192713	0.042000	0.20092	0.195000	0.23364	0.168000	0.22595	1.631000	0.37092	1.225000	0.43566	0.491000	0.48974	AGC		0.597	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			34	222	1	0	4.00102e-26	1	4.60546e-26	34	222					T	179260107	G	T	179260107	3	4	79	1	0	0	0	0	1	0	0	0	15182	971	34	3	852	3	SQSTM1	5	179260107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	179260107	1655153	6939	17256	105	2									
C5orf45	51149	broad.mit.edu	37	chr5	179264406	179264406	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatcacacatcatcatcGaagtcttccccagttataaa	4	13	4	1	rs552007127	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18568	0.0		0.0	False		,,,				2504	0.001					ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1015-1017)ttC>ttT		chromosome 5 open reading frame 45							182	184	183					5																	179264406		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179264406G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.1017C>T	5.37:g.179264406G>A						C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR	p.F339F	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	1107	-			339					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.1017C>T	CCDS34319.1																																																																																				0.512	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		316	923	0	0	0	1	0	316	923					A	179264406	G	A	179264406	2	1	79	1	0	0	0	0	0	0	0	1	2311	1049	37	1		1	C5orf45	5	179264406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4299	179264406	1650854	6940	17257											
C5orf45	51149	broad.mit.edu	37	chr5	179269014	179269014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctccagttcttgggaGtccttttctagatacttcag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000292586.6	-	5	432	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000518219.1_Silent_p.D114D	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498																																						ENST00000518219.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(340-342)gaC>gaT		chromosome 5 open reading frame 45							261	281	274					5																	179269014		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179269014G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.342C>T	5.37:g.179269014G>A						C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000292586.6_Silent_p.D114D|C5orf45_ENST00000518235.1_Silent_p.D114D	p.D114D			Q6NTE8	CE045_HUMAN			5	353	-			114					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.342C>T	CCDS34319.1																																																																																				0.498	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		454	2080	0	0	0	1	0	454	2080					A	179269014	G	A	179269014	2	1	79	1	0	0	0	0	0	0	0	1	2311	1020	36	2		2	C5orf45	5	179269014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4608	179269014	1646246	6941	17258											
C5orf45	51149	broad.mit.edu	37	chr5	179275064	179275064	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagagccttcaccataAgcctgagaaaccaaaaaata	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000292586.6	-	3	219	c.129T>G	c.(127-129)gcT>gcG	p.A43A	Y_RNA_ENST00000516393.1_RNA|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_Silent_p.A43A|RN7SKP150_ENST00000410516.1_RNA	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423																																						ENST00000518219.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(127-129)gcT>gcG		chromosome 5 open reading frame 45							95	95	95					5																	179275064		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179275064A>C		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.129T>G	5.37:g.179275064A>C						C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000292586.6_Silent_p.A43A|C5orf45_ENST00000518235.1_Silent_p.A43A	p.A43A			Q6NTE8	CE045_HUMAN			3	140	-			43					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.129T>G	CCDS34319.1																																																																																				0.423	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		104	281	0	0	0	1	0	104	281					C	179275064	A	C	179275064	2	2	79	1	0	0	0	0	0	0	0	1	2311	59	3	4		4	C5orf45	5	179275064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6050	179275064	1640196	6942	17259											
TBC1D9B	23061	broad.mit.edu	37	chr5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatggcgtggtacaggTcctgctccatggggtcttca	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1046						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(3136-3138)gAc>gGc		TBC1 domain family, member 9B (with GRAM domain)							44	38	40					5																	179291064		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179291064T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3137A>G	5.37:g.179291064T>C	ENSP00000349291:p.Asp1046Gly					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000518085.1_5'UTR	p.D1046G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3174	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1046					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.3137A>G	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.433074|3.433074	0.62844|0.62844	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438|ENST00000524222	T;T;T;T|.	0.36878|.	2.96;3.06;1.23;1.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.189265|.	0.44483|.	D|.	0.000454|.	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.55481|0.55481	1.735|1.735	0.51482|0.51482	D|D	0.999928|0.999928	B;B;B;B;B|.	0.15930|.	0.001;0.002;0.001;0.002;0.015|.	B;B;B;B;B|.	0.18561|.	0.005;0.012;0.005;0.006;0.022|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.62326|.	D|.	0.03|.	-23.3488|-23.3488	15.3622|15.3622	0.74487|0.74487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;1029;1046;245;120|.	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8|.	.;.;TBC9B_HUMAN;.;.|.	G|A	1046;1029;205;187;120|89	ENSP00000349291:D1046G;ENSP00000347375:D1029G;ENSP00000430293:D205G;ENSP00000401585:D187G|.	ENSP00000347375:D1029G|.	D|T	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179223670|179223670	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.989000|0.989000	0.77384|0.77384	3.457000|3.457000	0.53007|0.53007	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	GAC|ACC		0.562	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		63	181	0	0	0	1	0	63	181					C	179291064	T	C	179291064	3	2	79	1	0	0	0	0	1	0	0	0	15680	1667	58	4	619	4	TBC1D9B	5	179291064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16000	179291064	1624196	6943	17260											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccaggacagcgagatgCtggagatcacccccaggtcc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	665	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(1993-1995)aGc>aTc		TBC1 domain family, member 9B (with GRAM domain)							98	91	93					5																	179302094		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179302094C>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1994G>T	5.37:g.179302094C>A	ENSP00000349291:p.Ser665Ile					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2031	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	665			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1994G>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534226	0.64972	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.91	5.29	4.41	0.53225	Rab-GAP/TBC domain (4);	0.059600	0.64402	D	0.000003	T	0.07548	0.0190	N	0.25201	0.72	0.80722	D	1	P;B;B	0.34699	0.464;0.409;0.263	B;B;B	0.36766	0.232;0.149;0.232	T	0.09378	-1.0677	10	0.05833	T	0.94	-31.843	14.2923	0.66286	0.0:0.7149:0.2851:0.0	.	665;665;665	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	665	ENSP00000349291:S665I;ENSP00000347375:S665I	ENSP00000347375:S665I	S	-	2	0	TBC1D9B	179234700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.038000	0.57318	2.469000	0.83416	0.491000	0.48974	AGC		0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		119	378	1	0	6.25559e-39	1	7.55242e-39	119	378					A	179302094	C	A	179302094	3	1	79	1	0	0	0	0	1	0	0	0	15680	797	28	3	1802	3	TBC1D9B	5	179302094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11030	179302094	1613166	6944	17261											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctaccttctctcggctgCtgtgggccgtcagggagcgg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	357	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGGCTGCTGTGGGCCGT	0.672																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1069-1071)aGc>aAc		RasGEF domain family, member 1C							38	47	44					5																	179545622		2202	4298	6500	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545622C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1070G>A	5.37:g.179545622C>T	ENSP00000377037:p.Ser357Asn					RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N	p.S357N			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1366	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	357			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.1070G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678280	0.47886	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30981	1.51;1.51;1.51	4.18	3.31	0.37934	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.51422	1.61	0.49798	D	0.999829	B	0.29766	0.256	B	0.35607	0.206	T	0.16630	-1.0396	10	0.56958	D	0.05	.	11.3716	0.49702	0.0:0.9071:0.0:0.0929	.	357	Q8N431	RGF1C_HUMAN	N	357;357;206	ENSP00000354963:S357N;ENSP00000377037:S357N;ENSP00000429114:S206N	ENSP00000354963:S357N	S	-	2	0	RASGEF1C	179478228	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.189000	0.65098	1.064000	0.40671	0.313000	0.20887	AGC		0.672	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		103	473	0	0	0	1	0	103	473					T	179545622	C	T	179545622	3	4	79	1	0	0	0	0	1	0	0	0	13121	797	28	2	350	2	RASGEF1C	5	179545622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243528	179545622	1369638	6945	17262											
MAPK9	5601	broad.mit.edu	37	chr5	179666973	179666973	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaactgggcatcataAatttgaggtggtggctaaaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000452135.2	-	10	1309	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	337					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCATAAATTTGAGGTG	0.338																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1009-1011)atT>atA		mitogen-activated protein kinase 9							153	143	146					5																	179666973		2203	4300	6503	SO:0001819	synonymous_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179666973A>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.1011T>A	5.37:g.179666973A>T						MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I	p.I337I			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1309	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	337					A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	37	c.1011T>A	CCDS4453.1																																																																																				0.338	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			69	320	0	0	0	1	0	69	320					T	179666973	A	T	179666973	2	4	79	1	0	0	0	0	0	0	0	1	9328	10	1	5		5	MAPK9	5	179666973	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121351	179666973	1248287	6946	17263											
MAPK9	5601	broad.mit.edu	37	chr5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcatcatgaagttagtgCacgctgtccgggccaggcca	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000452135.2	-	6	828	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTTAGTGCACGCTGTCCG	0.512																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(529-531)tGc>tAc		mitogen-activated protein kinase 9							155	156	156					5																	179676059		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676059C>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.530G>A	5.37:g.179676059C>T	ENSP00000394560:p.Cys177Tyr					MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR	p.C177Y			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	828	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	177			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.530G>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703293	0.48412	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	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	0.51058	0.1652	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.33612	0.148;0.297;0.297;0.297;0.419	B;B;B;B;B	0.34824	0.015;0.19;0.015;0.015;0.041	T	0.56547	-0.7961	10	0.72032	D	0.01	-16.9108	19.6612	0.95875	0.0:1.0:0.0:0.0	.	177;177;177;177;177	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	177	ENSP00000394560:C177Y;ENSP00000377028:C177Y;ENSP00000389338:C177Y;ENSP00000345524:C177Y;ENSP00000321410:C177Y;ENSP00000397422:C177Y;ENSP00000443149:C177Y	ENSP00000345524:C177Y	C	-	2	0	MAPK9	179608665	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	TGC		0.512	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			285	896	0	0	0	1	0	285	896					T	179676059	C	T	179676059	3	4	79	1	0	0	0	0	1	0	0	0	9328	710	25	2	894	2	MAPK9	5	179676059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9086	179676059	1239201	6947	17264											
GFPT2	9945	broad.mit.edu	37	chr5	179743450	179743450	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcagtcagttcctccaaAacttgccgcgtctgaagcca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	388	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|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)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1162-1164)gtT>gtG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						84	81	82					5																	179743450		2032	4211	6243	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743450A>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1164T>G	5.37:g.179743450A>C							p.V388V	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1333	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	388			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1164T>G	CCDS43411.1																																																																																				0.498	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		29	164	0	0	0	1	0	29	164					C	179743450	A	C	179743450	2	2	79	1	0	0	0	0	0	0	0	1	6375	1	1	4		4	GFPT2	5	179743450	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67391	179743450	1171810	6948	17265											
GFPT2	9945	broad.mit.edu	37	chr5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagcatcttaccagaaAtttcctcagatctttgtaat	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	132	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|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)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(394-396)Ttt>Gtt		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						79	77	78					5																	179758500		1835	4097	5932	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179758500A>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.394T>G	5.37:g.179758500A>C	ENSP00000253778:p.Phe132Val						p.F132V	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	563	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	132			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.394T>G	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437962	0.83885	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76186	-1.0;-1.0	5.48	5.48	0.80851	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051822	0.85682	D	0.000000	T	0.73860	0.3641	L	0.41027	1.25	0.58432	D	0.999991	P	0.42692	0.787	P	0.48921	0.595	T	0.72221	-0.4356	9	.	.	.	-18.5472	15.25	0.73536	1.0:0.0:0.0:0.0	.	132	O94808	GFPT2_HUMAN	V	132;34	ENSP00000253778:F132V;ENSP00000431125:F34V	.	F	-	1	0	GFPT2	179691106	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	9.094000	0.94168	2.084000	0.62774	0.459000	0.35465	TTT		0.438	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		41	151	0	0	0	1	0	41	151					C	179758500	A	C	179758500	3	2	79	1	0	0	0	0	1	0	0	0	6375	101	4	4	1714	4	GFPT2	5	179758500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15050	179758500	1156760	6949	17266											
FLT4	2324	broad.mit.edu	37	chr5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggcgatgtgtagggCcatggtggacacctgcgaga	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1206					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3616-3618)Gcc>Acc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						82	84	84					5																	180038401		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038401C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3616G>A	5.37:g.180038401C>T	ENSP00000261937:p.Ala1206Thr					FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3694	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1206					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3616G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	8.093	0.774853	0.16051	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77229	-1.08;-1.08;-1.07	4.48	4.48	0.54585	.	.	.	.	.	T	0.54886	0.1886	N	0.08118	0	0.38878	D	0.956844	B;B	0.33549	0.286;0.417	B;B	0.29598	0.103;0.104	T	0.57087	-0.7871	9	0.22109	T	0.4	.	10.5112	0.44864	0.0:0.9099:0.0:0.0901	.	1206;1206	E9PD35;P35916	.;VGFR3_HUMAN	T	1206	ENSP00000261937:A1206T;ENSP00000377016:A1206T;ENSP00000426057:A1206T	ENSP00000261937:A1206T	A	-	1	0	FLT4	179971007	0.998000	0.40836	0.929000	0.37066	0.018000	0.09664	4.128000	0.57951	2.492000	0.84095	0.555000	0.69702	GCC		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			64	706	0	0	0	1	0	64	706					T	180038401	C	T	180038401	3	4	79	1	0	0	0	0	1	0	0	0	5969	739	26	2	499	2	FLT4	5	180038401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279901	180038401	876859	6950	17267											
FLT4	2324	broad.mit.edu	37	chr5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcttccaccaccttccCgaaggcgccgtagccgagca	12	16	0	0	rs267606818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in LMPH1A; loss of kinase activity). {ECO:0000269|PubMed:10835628}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	GRCh37	CM001158	FLT4	M		c.(2569-2571)Ggg>Agg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						54	57	56					5																	180046743		2203	4298	6501	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046743C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2569G>A	5.37:g.180046743C>T	ENSP00000261937:p.Gly857Arg					FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R	p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2647	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	857		G -> R (in LMPH1A; loss of kinase activity).	Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2569G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504333	0.85176	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.95103	-3.61;-3.61;-3.61	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98175	0.9397	H	0.96430	3.82	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	0.99612	1.0981	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	667;857;857	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	R	857;857;857;667	ENSP00000261937:G857R;ENSP00000377016:G857R;ENSP00000426057:G857R	ENSP00000261937:G857R	G	-	1	0	FLT4	179979349	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			135	458	0	0	0	1	0	135	458					T	180046743	C	T	180046743	3	4	79	1	0	0	0	0	1	0	0	0	5969	652	23	1	1582	1	FLT4	5	180046743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8342	180046743	868517	6951	17268											
FLT4	2324	broad.mit.edu	37	chr5	180055887	180055887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagggctgttaccactgGaactcgggcggggggtacgc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000393347.3_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	366	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1096-1098)ttC>ttT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						25	29	27					5																	180055887		2196	4296	6492	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180055887G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1098C>T	5.37:g.180055887G>A						FLT4_ENST00000393347.3_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F	p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	8	1176	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	366			Ig-like C2-type 4.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1098C>T	CCDS4457.1																																																																																				0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			48	239	0	0	0	1	0	48	239					A	180055887	G	A	180055887	2	1	79	1	0	0	0	0	0	0	0	1	5969	1165	41	2		2	FLT4	5	180055887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9144	180055887	859373	6952	17269											
FLT4	2324	broad.mit.edu	37	chr5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacttcctgggcaacaGctggatgtcatagagctcgt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	234	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(700-702)Ctg>Atg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						75	65	69					5																	180056812		2199	4297	6496	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056812G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.700C>A	5.37:g.180056812G>T	ENSP00000261937:p.Leu234Met					FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M	p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	6	778	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	234			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.700C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069511	0.55539	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78924	-1.22;-1.22;-1.22	4.91	4.03	0.46877	Immunoglobulin-like (1);	.	.	.	.	D	0.84579	0.5503	M	0.66939	2.045	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;0.975;0.975	D;D;D;D	0.97110	0.999;1.0;0.951;0.934	D	0.83885	0.0281	9	0.49607	T	0.09	.	9.3967	0.38406	0.0754:0.0:0.7799:0.1447	.	234;234;234;234	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	234;234;234;44	ENSP00000261937:L234M;ENSP00000377016:L234M;ENSP00000426057:L234M	ENSP00000261937:L234M	L	-	1	2	FLT4	179989418	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.092000	0.64511	1.190000	0.43042	-0.310000	0.09108	CTG		0.592	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			34	99	1	0	1.62565e-12	1	1.74646e-12	34	99					T	180056812	G	T	180056812	3	4	79	1	0	0	0	0	1	0	0	0	5969	962	34	3	3499	3	FLT4	5	180056812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925	180056812	858448	6953	17270											
FLT4	2324	broad.mit.edu	37	chr5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgccctcgatgcgtGccttgatgtacttgtagtag	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000393347.3_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	118	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(352-354)gCa>gTa		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						185	142	157					5																	180057602		2203	4299	6502	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057602G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.353C>T	5.37:g.180057602G>A	ENSP00000261937:p.Ala118Val					FLT4_ENST00000393347.3_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V	p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	431	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	118			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.353C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591855	0.46214	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77098	-1.07;-1.07;-1.07	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	L	0.42245	1.32	0.46631	D	0.999134	P;P;P;B;B	0.51537	0.946;0.934;0.492;0.005;0.002	P;P;B;B;B	0.51701	0.636;0.677;0.184;0.021;0.014	T	0.74481	-0.3651	9	0.33141	T	0.24	.	11.9624	0.53015	0.0801:0.0:0.9199:0.0	.	118;118;118;118;118	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	V	118	ENSP00000261937:A118V;ENSP00000377016:A118V;ENSP00000426057:A118V	ENSP00000261937:A118V	A	-	2	0	FLT4	179990208	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.973000	0.56845	2.465000	0.83290	0.456000	0.33151	GCA		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			97	237	0	0	0	1	0	97	237					A	180057602	G	A	180057602	3	1	79	1	0	0	0	0	1	0	0	0	5969	1319	46	2	3858	2	FLT4	5	180057602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	180057602	857658	6954	17271											
MGAT1	4245	broad.mit.edu	37	chr5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacacccagagccttggCgaaagccttgaagctgtccc	10	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	398					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTTGGCGAAAGCCTTG	0.617																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(1192-1194)Gcc>Acc		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							76	69	71					5																	180218780		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180218780C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1192G>A	5.37:g.180218780C>T	ENSP00000404718:p.Ala398Thr					MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1942	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	398					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.1192G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355865	0.82243	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.51055	0.657	D	0.85120	0.0968	10	0.18276	T	0.48	-21.9415	15.8674	0.79074	0.0:1.0:0.0:0.0	.	398	P26572	MGAT1_HUMAN	T	398;398;398;398;255;398	ENSP00000332073:A398T;ENSP00000311888:A398T;ENSP00000404718:A398T;ENSP00000377010:A398T;ENSP00000402838:A398T	ENSP00000311888:A398T	A	-	1	0	MGAT1	180151386	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.840000	0.75369	2.692000	0.91855	0.655000	0.94253	GCC		0.617	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		92	247	0	0	0	1	0	92	247					T	180218780	C	T	180218780	3	4	79	1	0	0	0	0	1	0	0	0	9583	768	27	1	149	1	MGAT1	5	180218780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161178	180218780	696480	6955	17272											
BTNL8	79908	broad.mit.edu	37	chr5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggtcctcagactgaatgGagaacatttgtatttcacat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512																																						ENST00000340184.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1150-1152)gGa>gAa		butyrophilin-like 8							135	125	128					5																	180377192		2061	3871	5932	SO:0001583	missense	79908					integral to membrane		g.chr5:180377192G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1151G>A	5.37:g.180377192G>A	ENSP00000342197:p.Gly384Glu					BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E	p.G384E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1357	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	384			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1151G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296925	0.01364	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	1.89	-3.78	0.04333	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33440	0.0863	N	0.13098	0.295	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.0;0.0;0.006	T	0.06127	-1.0844	9	0.11485	T	0.65	.	2.5575	0.04764	0.3517:0.1419:0.3936:0.1128	.	259;268;384	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	E	384;259;268;177;200	ENSP00000342197:G384E;ENSP00000383543:G259E;ENSP00000425207:G268E;ENSP00000427441:G177E;ENSP00000435098:G200E	ENSP00000342197:G384E	G	+	2	0	BTNL8	180309798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-3.895000	0.00094	-2.987000	0.00079	GGA		0.512	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		105	282	0	0	0	1	0	105	282					A	180377192	G	A	180377192	3	1	79	1	0	0	0	0	1	0	0	0	1571	1174	41	2	1337	2	BTNL8	5	180377192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158412	180377192	538068	6956	17273											
BTNL3	10917	broad.mit.edu	37	chr5	180424256	180424256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgtgggatatgttgaCggaggtatccagttactctg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424256C>T	ENST00000342868.6	+	3	625	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	147	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D147E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GATATGTTGACGGAGGTATCC	0.498																																						ENST00000342868.6																			1	Substitution - Missense(1)	p.D147E(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(439-441)gaC>gaT		butyrophilin-like 3							139	121	127					5																	180424256		2133	3964	6097	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180424256C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.441C>T	5.37:g.180424256C>T							p.D147D	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	625	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	147			Ig-like V-type.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.441C>T	CCDS47358.1																																																																																				0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		24	706	0	0	0	1	0	24	706					T	180424256	C	T	180424256	2	4	79	1	0	0	0	0	0	0	0	1	1570	535	19	1		1	BTNL3	5	180424256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47064	180424256	491004	6957	17274											
BTNL3	10917	broad.mit.edu	37	chr5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggctggttcccccaGcccacagccaagtggaaagg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	162	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTTCCCCCAGCCCACAGCCA	0.512																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(484-486)caG>caT		butyrophilin-like 3							108	97	101					5																	180424301		2149	3950	6099	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424301G>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.486G>T	5.37:g.180424301G>T	ENSP00000341787:p.Gln162His						p.Q162H	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	670	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	162			Ig-like V-type.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.486G>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160223	0.38119	.	.	ENSG00000168903	ENST00000342868	T	0.41065	1.01	3.9	0.271	0.15640	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.68952	2.095	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.28299	-1.0048	9	0.72032	D	0.01	.	7.3458	0.26662	0.4953:0.0:0.5047:0.0	.	162	Q6UXE8	BTNL3_HUMAN	H	162	ENSP00000341787:Q162H	ENSP00000341787:Q162H	Q	+	3	2	BTNL3	180356907	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.115000	0.10741	-0.086000	0.12550	0.531000	0.56144	CAG		0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		15	506	1	0	1.05317e-09	1	1.11087e-09	15	506					T	180424301	G	T	180424301	3	4	79	1	0	0	0	0	1	0	0	0	1570	962	34	3	496	3	BTNL3	5	180424301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	180424301	490959	6958	17275											
BTNL3	10917	broad.mit.edu	37	chr5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagaacatttgtatttcAcattcaatccccattttatc	2	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTGTATTTCACATTCAATCC	0.498																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1168-1170)Aca>Gca		butyrophilin-like 3							165	173	170					5																	180432639		2084	4206	6290	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432639A>G	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1168A>G	5.37:g.180432639A>G	ENSP00000341787:p.Thr390Ala						p.T390A	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1352	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	390			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1168A>G	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544902	0.13312	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59906	0.23	3.0	-5.49	0.02584	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.31765	0.0807	N	0.02120	-0.675	0.09310	N	1	P;P	0.52463	0.953;0.798	P;B	0.54759	0.76;0.433	T	0.18023	-1.0350	9	0.07175	T	0.84	.	7.0513	0.25075	0.2235:0.0:0.6358:0.1407	.	356;390	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	390;356	ENSP00000341787:T390A	ENSP00000341787:T390A	T	+	1	0	BTNL3	180365245	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.079000	0.14782	-1.249000	0.02500	0.164000	0.16699	ACA		0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		107	270	0	0	0	1	0	107	270					G	180432639	A	G	180432639	3	3	79	1	0	0	0	0	1	0	0	0	1570	159	6	4	1198	4	BTNL3	5	180432639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8338	180432639	482621	6959	17276											
BTNL9	153579	broad.mit.edu	37	chr5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagtcagaccttcaatGtggtacacctgtaccaggag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000327705.9	+	3	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	82	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(244-246)Gtg>Atg		butyrophilin-like 9							65	56	59					5																	180475061		2203	4299	6502	SO:0001583	missense	153579					integral to membrane		g.chr5:180475061G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.244G>A	5.37:g.180475061G>A	ENSP00000330200:p.Val82Met					BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M	p.V82M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	475	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	82			Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.244G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745701	0.30955	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.17	4.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32068	N	0.006623	T	0.77405	0.4125	M	0.84219	2.685	0.09310	N	1	D;P	0.71674	0.998;0.953	D;P	0.71870	0.975;0.873	T	0.66360	-0.5943	10	0.72032	D	0.01	.	3.9571	0.09395	0.1952:0.0:0.6167:0.1881	.	13;82	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	M	82;82;82;82;13	ENSP00000366037:V82M;ENSP00000330200:V82M;ENSP00000366038:V82M;ENSP00000427345:V13M	ENSP00000330200:V82M	V	+	1	0	BTNL9	180407667	0.038000	0.19896	0.579000	0.28588	0.001000	0.01503	0.707000	0.25704	1.314000	0.45095	0.650000	0.86243	GTG		0.617	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		47	144	0	0	0	1	0	47	144					A	180475061	G	A	180475061	3	1	79	1	0	0	0	0	1	0	0	0	1572	1377	48	2	250	2	BTNL9	5	180475061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42422	180475061	440199	6960	17277											
BTNL9	153579	broad.mit.edu	37	chr5	180480219	180480219	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgttcgtacccggagcCtctgcgtggaagagcgcgtt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000327705.9	+	5	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000511589.1_3'UTR	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	252						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(754-756)gcC>gcA		butyrophilin-like 9							18	22	21					5																	180480219		2174	4247	6421	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180480219C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.756C>A	5.37:g.180480219C>A						BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000511589.1_3'UTR	p.A252A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	987	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	252					A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.756C>A	CCDS4460.2																																																																																				0.721	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		20	76	1	0	1.10923e-09	1	1.16946e-09	20	76					A	180480219	C	A	180480219	2	1	79	1	0	0	0	0	0	0	0	1	1572	668	24	3		3	BTNL9	5	180480219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5158	180480219	435041	6961	17278											
BTNL9	153579	broad.mit.edu	37	chr5	180486818	180486818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacgacagtgacacctggCtacagccctatgagcccgcg	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180486818C>A	ENST00000327705.9	+	11	1795	c.1564C>A	c.(1564-1566)Cta>Ata	p.L522I	BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	522						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACACCTGGCTACAGCCCTA	0.726																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(1564-1566)Cta>Ata		butyrophilin-like 9							13	13	13					5																	180486818		2196	4294	6490	SO:0001583	missense	153579					integral to membrane		g.chr5:180486818C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1564C>A	5.37:g.180486818C>A	ENSP00000330200:p.Leu522Ile					BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	p.L522I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1795	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	522					A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1564C>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	9.609	1.130772	0.21041	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.39997	1.07;1.05	4.32	-8.64	0.00874	.	1.887700	0.04364	N	0.357958	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.14392	-1.0474	10	0.41790	T	0.15	.	1.0467	0.01571	0.1756:0.2951:0.2863:0.2431	.	522	Q6UXG8	BTNL9_HUMAN	I	522;523	ENSP00000330200:L522I;ENSP00000366038:L523I	ENSP00000330200:L522I	L	+	1	2	BTNL9	180419424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.888000	0.00173	-3.227000	0.00210	-1.651000	0.00758	CTA		0.726	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		9	94	1	0	0.000442599	1	0.000448314	9	94					A	180486818	C	A	180486818	3	1	79	1	0	0	0	0	1	0	0	0	1572	796	28	3	1602	3	BTNL9	5	180486818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	180486818	428442	6962	17279											
TRIM7	81786	broad.mit.edu	37	chr5	180622208	180622208	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcccgtggagcaaacagaGaaaagcgggaacacgcgctc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000274773.7	-	7	1555	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TRIM7_ENST00000361809.3_Silent_p.F290F|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393315.1_Silent_p.F290F|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Silent_p.F290F|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Silent_p.F316F|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000504241.1_5'UTR	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	498	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(868-870)ttC>ttT		tripartite motif containing 7							59	43	49					5																	180622208		2203	4300	6503	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622208G>A	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1494C>T	5.37:g.180622208G>A						TRIM7_ENST00000274773.7_Silent_p.F498F|TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000393319.3_Silent_p.F316F|TRIM7_ENST00000504241.1_5'UTR	p.F290F	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1567	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	498					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.870C>T	CCDS4462.1																																																																																				0.632	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		44	147	0	0	0	1	0	44	147					A	180622208	G	A	180622208	2	1	79	1	0	0	0	0	0	0	0	1	16596	933	33	2		2	TRIM7	5	180622208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135390	180622208	293052	6963	17280											
TRIM41	90933	broad.mit.edu	37	chr5	180651776	180651776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagccacaaacagcacagCgtggtgccattggaggaggt	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	259					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAGCACAGCGTGGTGCCAT	0.547																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(775-777)agC>agT		tripartite motif containing 41							77	68	71					5																	180651776		2203	4300	6503	SO:0001819	synonymous_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651776C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.777C>T	5.37:g.180651776C>T						CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S	p.S259S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1487	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	259					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	c.777C>T	CCDS4466.1																																																																																				0.547	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		97	313	0	0	0	1	0	97	313					T	180651776	C	T	180651776	2	4	79	1	0	0	0	0	0	0	0	1	16569	767	27	1		1	TRIM41	5	180651776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29568	180651776	263484	6964	17281											
TRIM41	90933	broad.mit.edu	37	chr5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccacgtgcacaccttctCggctgccttcctgggcgagc	11	17	1	0	rs555265813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	605	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGCTGCCTTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13107	0.0		0.0	False		,,,				2504	0.0					ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1813-1815)tCg>tTg		tripartite motif containing 41							97	105	102					5																	180661696		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180661696C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1814C>T	5.37:g.180661696C>T	ENSP00000320869:p.Ser605Leu					TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	p.S605L	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	2524	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	605			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1814C>T	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206989	0.22205	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.70282	-0.47	4.86	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.328211	0.22250	N	0.062574	T	0.76814	0.4040	L	0.55990	1.75	0.20074	N	0.999938	D	0.69078	0.997	P	0.60682	0.878	T	0.68164	-0.5481	10	0.72032	D	0.01	.	10.9864	0.47525	0.0:0.8113:0.1887:0.0	.	605	Q8WV44	TRI41_HUMAN	L	605;290	ENSP00000320869:S605L	ENSP00000320869:S605L	S	+	2	0	TRIM41	180594302	0.201000	0.23410	0.441000	0.26858	0.001000	0.01503	0.018000	0.13422	1.250000	0.43966	-0.519000	0.04390	TCG		0.602	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		128	682	0	0	0	1	0	128	682					T	180661696	C	T	180661696	3	4	79	1	0	0	0	0	1	0	0	0	16569	893	31	1	1836	1	TRIM41	5	180661696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9920	180661696	253564	6965	17282											
TRIM52	84851	broad.mit.edu	37	chr5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgtgcccacagctgatgGacacggggtccttgaagtaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	32					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(94-96)tCc>tTc		tripartite motif containing 52							66	56	60					5																	180687720		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687720G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.95C>T	5.37:g.180687720G>A	ENSP00000332152:p.Ser32Phe					TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	p.S32F	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	399	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	32						Missense_Mutation	SNP	ENST00000327767.4	37	c.95C>T	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014596	0.54468	.	.	ENSG00000183718	ENST00000327767	D	0.95238	-3.65	3.72	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.96670	0.8913	M	0.77486	2.375	0.47123	D	0.999328	D	0.89917	1.0	D	0.75484	0.986	D	0.96451	0.9334	8	.	.	.	.	13.7957	0.63168	0.0:0.0:1.0:0.0	.	32	Q96A61	TRI52_HUMAN	F	32	ENSP00000332152:S32F	.	S	-	2	0	TRIM52	180620326	0.093000	0.21703	0.112000	0.21494	0.279000	0.26890	1.476000	0.35420	2.041000	0.60428	0.511000	0.50034	TCC		0.562	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		48	220	0	0	0	1	0	48	220					A	180687720	G	A	180687720	3	1	79	1	0	0	0	0	1	0	0	0	16580	1174	41	2	806	2	TRIM52	5	180687720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	180687720	227540	6966	17283											
DUSP22	56940	broad.mit.edu	37	chr6	345913	345913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggctccgcggtgagaGctgccttgtacactggtacg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000344450.5	+	5	691	c.248G>A	c.(247-249)aGc>aAc	p.S83N	DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000604971.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	83	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCGGTGAGAGCTGCCTTGTA	0.433																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26								dual specificity phosphatase 22							159	131	141					6																	345913		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:345913G>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.248G>A	6.37:g.345913G>A	ENSP00000345281:p.Ser83Asn					DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000344450.5_Missense_Mutation_p.S83N				Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	0	1052	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)						B4DK56|Q59GW2|Q5VWR2|Q96AR1	Translation_Start_Site	SNP	ENST00000344450.5	37		CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	6.942	0.543537	0.13250	.	.	ENSG00000112679	ENST00000344450	T	0.60171	0.21	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.219153	0.40469	N	0.001099	T	0.11836	0.0288	N	0.00605	-1.335	0.49213	D	0.999763	B;B;B	0.25850	0.0;0.025;0.136	B;B;B	0.23716	0.002;0.048;0.048	T	0.41805	-0.9488	10	0.05959	T	0.93	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	83;40;83	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	N	83	ENSP00000345281:S83N	ENSP00000345281:S83N	S	+	2	0	DUSP22	290913	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.583000	0.74053	2.523000	0.85059	0.655000	0.94253	AGC		0.433	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		51	362	0	0	0	1	0	51	362					A	345913	G	A	345913	3	1	79	1	0	0	0	0	1	0	0	0	4837	971	34	2	266	2	DUSP22	6	345913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		345913	170769154	6967	17284											
EXOC2	55770	broad.mit.edu	37	chr6	532557	532557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggatctgctttcaactcGatgtaattttcaaagagtct	8	7	4	1	rs560648856		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	764					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.001					ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2290-2292)atC>atT		exocyst complex component 2							123	118	119					6																	532557		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:532557G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2292C>T	6.37:g.532557G>A						EXOC2_ENST00000448181.3_Silent_p.I359I	p.I764I	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	23	2427	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	764					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.2292C>T	CCDS34327.1																																																																																				0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		68	322	0	0	0	1	0	68	322					A	532557	G	A	532557	2	1	79	1	0	0	0	0	0	0	0	1	5320	1048	37	1		1	EXOC2	6	532557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186644	532557	170582510	6968	17285											
HUS1B	135458	broad.mit.edu	37	chr6	656306	656306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaggcacacccacagcCgactggggagggtttccaag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	213					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(637-639)tcG>tcA		HUS1 checkpoint homolog b (S. pombe)							119	130	126					6																	656306		2203	4300	6503	SO:0001819	synonymous_variant	135458							g.chr6:656306C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.639G>A	6.37:g.656306C>T						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.S213S	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	657	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	213					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.639G>A	CCDS4470.1																																																																																				0.502	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		185	779	0	0	0	1	0	185	779					T	656306	C	T	656306	2	4	79	1	0	0	0	0	0	0	0	1	7490	639	23	1		1	HUS1B	6	656306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123749	656306	170458761	6969	17286											
HUS1B	135458	broad.mit.edu	37	chr6	656841	656841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagcacaggctgtcagggCgcacgcggagcacgcagacc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	35					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(103-105)cGc>cAc		HUS1 checkpoint homolog b (S. pombe)							28	26	26					6																	656841		2202	4296	6498	SO:0001583	missense	135458							g.chr6:656841C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.104G>A	6.37:g.656841C>T	ENSP00000370293:p.Arg35His					EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.R35H	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	122	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	35					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.104G>A	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697071	0.30142	.	.	ENSG00000188996	ENST00000380907	T	0.11277	2.79	2.77	1.85	0.25348	.	0.428272	0.20386	U	0.093349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.39590	0.304	T	0.42292	-0.9460	10	0.44086	T	0.13	.	7.4847	0.27425	0.0:0.7314:0.2686:0.0	.	35	Q8NHY5	HUS1B_HUMAN	H	35	ENSP00000370293:R35H	ENSP00000370293:R35H	R	-	2	0	HUS1B	601841	0.053000	0.20554	0.001000	0.08648	0.012000	0.07955	0.084000	0.14891	0.709000	0.31976	0.491000	0.48974	CGC		0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		41	154	0	0	0	1	0	41	154					T	656841	C	T	656841	3	4	79	1	0	0	0	0	1	0	0	0	7490	768	27	1	736	1	HUS1B	6	656841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	656841	170458226	6970	17287											
FOXF2	2295	broad.mit.edu	37	chr6	1390839	1390839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgggcttcggggcgtcGctgctgccccagggcttcga	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	219					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(655-657)tcG>tcA		forkhead box F2							11	13	12					6																	1390839		2167	4250	6417	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390839G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.657G>A	6.37:g.1390839G>A							p.S219S	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	771	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	219					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.657G>A	CCDS4472.1																																																																																				0.746	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			27	166	0	0	0	1	0	27	166					A	1390839	G	A	1390839	2	1	79	1	0	0	0	0	0	0	0	1	6033	1074	38	1		1	FOXF2	6	1390839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733998	1390839	169724228	6971	17288											
FOXF2	2295	broad.mit.edu	37	chr6	1391220	1391220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctcgcctggcgcctcGccttacctcaagcagccgcc	11	18	1	0	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	346					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1036-1038)tcG>tcA		forkhead box F2							11	11	11					6																	1391220		2167	4227	6394	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391220G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1038G>A	6.37:g.1391220G>A							p.S346S	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1152	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	346					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.1038G>A	CCDS4472.1																																																																																				0.706	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			14	73	0	0	0	1	0	14	73					A	1391220	G	A	1391220	2	1	79	1	0	0	0	0	0	0	0	1	6033	1074	38	1		1	FOXF2	6	1391220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	1391220	169723847	6972	17289											
FOXC1	2296	broad.mit.edu	37	chr6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccctgaacggcatcTaccagttcatcatggaccgc	8	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	105					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(313-315)Tac>Cac		forkhead box C1							120	129	126					6																	1610993		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1610993T>C	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.313T>C	6.37:g.1610993T>C	ENSP00000370256:p.Tyr105His						p.Y105H	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	313	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	105					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.313T>C	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.022166	0.75275	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97279	-4.32	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000005	D	0.99061	0.9678	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	12.605	0.56519	0.0:0.0:0.0:1.0	.	105	Q12948	FOXC1_HUMAN	H	105	ENSP00000370256:Y105H	ENSP00000370256:Y105H	Y	+	1	0	FOXC1	1555992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.138000	0.77305	1.501000	0.48654	0.375000	0.23000	TAC		0.577	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			121	578	0	0	0	1	0	121	578					C	1610993	T	C	1610993	3	2	79	1	0	0	0	0	1	0	0	0	6019	1522	53	4	315	4	FOXC1	6	1610993	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219773	1610993	169504074	6973	17290											
GMDS	2762	broad.mit.edu	37	chr6	1624761	1624761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcgctttggtgcagtcGccctgcagaaagtcctaggg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	334					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTGCAGTCGCCCTGCAGAA	0.667																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(1000-1002)ggC>ggT		GDP-mannose 4,6-dehydratase							33	35	34					6																	1624761		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1624761G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1002C>T	6.37:g.1624761G>A						GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	p.G334G	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	10	1271	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	334					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.1002C>T	CCDS4474.1																																																																																				0.667	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			5	181	0	0	0	1	0	5	181					A	1624761	G	A	1624761	2	1	79	1	0	0	0	0	0	0	0	1	6515	1074	38	1		1	GMDS	6	1624761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13768	1624761	169490306	6974	17291											
MYLK4	340156	broad.mit.edu	37	chr6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagctggatgaggttcgCgtggtccagctggttcatga	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(481-483)Gcg>Acg		myosin light chain kinase family, member 4							260	195	217					6																	2685594		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685594C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.481G>A	6.37:g.2685594C>T	ENSP00000274643:p.Ala161Thr					MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			6	823	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	161			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.481G>A	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724036	0.68959	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39229	1.09;1.09	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170767	0.27451	N	0.019319	T	0.18551	0.0445	N	0.25426	0.745	0.32308	N	0.564091	P	0.40302	0.712	B	0.32465	0.146	T	0.11324	-1.0592	10	0.48119	T	0.1	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	161	Q86YV6	MYLK4_HUMAN	T	161	ENSP00000268446:A161T;ENSP00000274643:A161T	ENSP00000268446:A161T	A	-	1	0	MYLK4	2630593	1.000000	0.71417	0.953000	0.39169	0.715000	0.41141	4.968000	0.63728	2.649000	0.89929	0.603000	0.83216	GCG		0.572	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		149	734	0	0	0	1	0	149	734					T	2685594	C	T	2685594	3	4	79	1	0	0	0	0	1	0	0	0	10100	768	27	1	713	1	MYLK4	6	2685594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060833	2685594	168429473	6975	17292											
WRNIP1	56897	broad.mit.edu	37	chr6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgtcctagactctagccgtCccactgaccctctgagccac	7	18	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380773.4	+	3	1425	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P186T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(556-558)Ccc>Acc		Werner helicase interacting protein 1							77	72	74					6																	2770555		2203	4300	6503	SO:0001583	missense	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770555C>A	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1216C>A	6.37:g.2770555C>A	ENSP00000370150:p.Pro406Thr					WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P406T	p.P186T			Q96S55	WRIP1_HUMAN			3	787	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	406						Missense_Mutation	SNP	ENST00000380773.4	37	c.556C>A	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501245	0.44455	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.43688	0.94;1.0;1.01	5.79	4.93	0.64822	.	0.437998	0.24657	N	0.036668	T	0.12433	0.0302	N	0.25647	0.755	0.30469	N	0.773538	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.006	T	0.13818	-1.0495	10	0.14252	T	0.57	-17.2905	12.2648	0.54672	0.0:0.9222:0.0:0.0778	.	381;406	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	406;381;186;22	ENSP00000370150:P406T;ENSP00000370148:P381T;ENSP00000370146:P186T	ENSP00000370141:P22T	P	+	1	0	WRNIP1	2715554	0.733000	0.28132	0.934000	0.37439	0.998000	0.95712	2.859000	0.48364	1.447000	0.47661	0.650000	0.86243	CCC		0.547	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		25	282	1	0	1.12875e-08	1	1.18168e-08	25	282					A	2770555	C	A	2770555	3	1	79	1	0	0	0	0	1	0	0	0	17457	855	30	3	1226	3	WRNIP1	6	2770555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84961	2770555	168344512	6976	17293											
WRNIP1	56897	broad.mit.edu	37	chr6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaggtctggcagaccCgtctgcgttaacacaagcgg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380773.4	+	6	1864	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P332L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(994-996)cCg>cTg		Werner helicase interacting protein 1							113	88	97					6																	2784570		2203	4300	6503	SO:0001583	missense	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2784570C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1655C>T	6.37:g.2784570C>T	ENSP00000370150:p.Pro552Leu					WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P552L	p.P332L			Q96S55	WRIP1_HUMAN			6	1226	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	552						Missense_Mutation	SNP	ENST00000380773.4	37	c.995C>T	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917728	0.92249	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.54071	0.6;0.59;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.66497	0.944;0.472	D	0.84723	0.0741	10	0.87932	D	0	-0.8257	18.5466	0.91048	0.0:1.0:0.0:0.0	.	527;552	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	552;527;332;168	ENSP00000370150:P552L;ENSP00000370148:P527L;ENSP00000370146:P332L	ENSP00000370141:P168L	P	+	2	0	WRNIP1	2729569	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.344000	0.79328	2.610000	0.88304	0.563000	0.77884	CCG		0.507	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		33	102	0	0	0	1	0	33	102					T	2784570	C	T	2784570	3	4	79	1	0	0	0	0	1	0	0	0	17457	652	23	1	1677	1	WRNIP1	6	2784570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	2784570	168330497	6977	17294											
SERPINB9	5272	broad.mit.edu	37	chr6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccaaagagcctgttgGccgttctcagcaggtactgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	89					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(265-267)gCc>gTc		serpin peptidase inhibitor, clade B (ovalbumin), member 9							100	98	99					6																	2896327		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896327G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.266C>T	6.37:g.2896327G>A	ENSP00000370074:p.Ala89Val						p.A89V	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			3	355	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	89					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.266C>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204303	0.79127	.	.	ENSG00000170542	ENST00000380698	D	0.87029	-2.2	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.81614	2.55	0.80722	D	1	D	0.63046	0.992	P	0.52454	0.699	D	0.90084	0.4172	10	0.54805	T	0.06	.	15.6929	0.77469	0.0:0.0:1.0:0.0	.	89	P50453	SPB9_HUMAN	V	89	ENSP00000370074:A89V	ENSP00000370074:A89V	A	-	2	0	SERPINB9	2841326	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	8.832000	0.92079	2.342000	0.79632	0.655000	0.94253	GCC		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			66	300	0	0	0	1	0	66	300					A	2896327	G	A	2896327	3	1	79	1	0	0	0	0	1	0	0	0	14158	1203	42	2	884	2	SERPINB9	6	2896327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111757	2896327	168218740	6978	17295											
NQO2	4835	broad.mit.edu	37	chr6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccgagggccacagacaaaGatatcactggtgagtcatgg	13	9	2	3	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	55					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CACAGACAAAGATATCACTGG	0.413																																						ENST00000338130.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(163-165)Gat>Tat		NAD(P)H dehydrogenase, quinone 2	Menadione(DB00170)|NADH(DB00157)						68	62	64					6																	3010414		2203	4300	6503	SO:0001583	missense	4835					cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity	g.chr6:3010414G>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.163G>T	6.37:g.3010414G>T	ENSP00000337773:p.Asp55Tyr					NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR	p.D55Y			P16083	NQO2_HUMAN			6	875	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	55					B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	c.163G>T	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851555	0.51270	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61103	-0.7130	10	0.87932	D	0	-29.6135	16.8378	0.85961	0.0:0.0:1.0:0.0	rs55771117	55;102	P16083;Q59EN2	NQO2_HUMAN;.	Y	55;55;102;55;55;55;55;55;55	ENSP00000406951:D55Y;ENSP00000369839:D55Y;ENSP00000380829:D55Y;ENSP00000337773:D55Y;ENSP00000369806:D55Y;ENSP00000369822:D55Y;ENSP00000369821:D55Y;ENSP00000369795:D55Y	ENSP00000337773:D55Y	D	+	1	0	NQO2	2955413	1.000000	0.71417	0.414000	0.26521	0.078000	0.17371	8.075000	0.89502	2.650000	0.89964	0.563000	0.77884	GAT		0.413	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			30	127	1	0	1.75199e-13	1	1.89187e-13	30	127					T	3010414	G	T	3010414	3	4	79	1	0	0	0	0	1	0	0	0	10654	942	33	3	169	3	NQO2	6	3010414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114087	3010414	168104653	6979	17296											
NQO2	4835	broad.mit.edu	37	chr6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagggtaaactagcgCtcctttccgtaaccacggga	10	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	144					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TAAACTAGCGCTCCTTTCCGT	0.547																																						ENST00000338130.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(430-432)Ctc>Ttc		NAD(P)H dehydrogenase, quinone 2	Menadione(DB00170)|NADH(DB00157)						132	99	110					6																	3017130		2203	4300	6503	SO:0001583	missense	4835					cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity	g.chr6:3017130C>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.430C>T	6.37:g.3017130C>T	ENSP00000337773:p.Leu144Phe					NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F	p.L144F			P16083	NQO2_HUMAN			9	1142	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	144					B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	c.430C>T	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009775	0.35415	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.12361	2.69;2.96;2.69;2.96;2.69	5.4	4.52	0.55395	Flavodoxin-like fold (1);	0.108382	0.64402	D	0.000013	T	0.16896	0.0406	M	0.69463	2.115	0.39564	D	0.969173	D	0.56287	0.975	P	0.61132	0.884	T	0.02075	-1.1218	10	0.59425	D	0.04	-27.4601	6.6329	0.22867	0.337:0.5798:0.0:0.0831	.	144	P16083	NQO2_HUMAN	F	144;106;144;106;144	ENSP00000337773:L144F;ENSP00000369806:L106F;ENSP00000369822:L144F;ENSP00000369821:L106F;ENSP00000369795:L144F	ENSP00000337773:L144F	L	+	1	0	NQO2	2962129	0.541000	0.26417	0.022000	0.16811	0.025000	0.11179	0.754000	0.26390	1.246000	0.43901	0.563000	0.77884	CTC		0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			24	158	0	0	0	1	0	24	158					T	3017130	C	T	3017130	3	4	79	1	0	0	0	0	1	0	0	0	10654	797	28	2	448	2	NQO2	6	3017130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6716	3017130	168097937	6980	17297											
BPHL	670	broad.mit.edu	37	chr6	3129401	3129401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggggcgccaacgcctaCgtcactgacgaagacagcat	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000380379.5	+	4	550	c.501C>T	c.(499-501)taC>taT	p.Y167Y	BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380368.2_Silent_p.Y150Y	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	167					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537																																						ENST00000380368.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(448-450)taC>taT		biphenyl hydrolase-like (serine hydrolase)							115	89	98					6																	3129401		2203	4300	6503	SO:0001819	synonymous_variant	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3129401C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"breast epithelial mucin-associated antigen"	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.501C>T	6.37:g.3129401C>T						BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380379.5_Silent_p.Y167Y	p.Y150Y			Q86WA6	BPHL_HUMAN			5	1094	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	167					Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	c.450C>T	CCDS4483.2																																																																																				0.537	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			39	198	0	0	0	1	0	39	198					T	3129401	C	T	3129401	2	4	79	1	0	0	0	0	0	0	0	1	1493	547	19	1		1	BPHL	6	3129401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112271	3129401	167985666	6981	17298											
TUBB2B	347733	broad.mit.edu	37	chr6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggttgccgcactggcccGcctggatgtgcacgatctca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	9					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726																																						ENST00000259818.7																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(25-27)gCg>gTg		tubulin, beta 2B class IIb							44	44	44					6																	3227752		2201	4299	6500	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3227752G>A	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.26C>T	6.37:g.3227752G>A	ENSP00000259818:p.Ala9Val					TUBB2B_ENST00000473006.1_Intron	p.A9V	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			1	217	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	9					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.26C>T	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806186	0.70682	.	.	ENSG00000137285	ENST00000259818	T	0.61158	0.13	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000023	T	0.22704	0.0548	N	0.02973	-0.45	0.80722	D	1	B;B	0.23806	0.091;0.057	B;B	0.21151	0.033;0.018	T	0.25117	-1.0141	10	0.87932	D	0	.	17.4008	0.87459	0.0:0.0:1.0:0.0	.	9;9	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	V	9	ENSP00000259818:A9V	ENSP00000259818:A9V	A	-	2	0	TUBB2B	3172751	1.000000	0.71417	0.953000	0.39169	0.884000	0.51177	3.777000	0.55364	2.403000	0.81681	0.561000	0.74099	GCG		0.726	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		45	216	0	0	0	1	0	45	216					A	3227752	G	A	3227752	3	1	79	1	0	0	0	0	1	0	0	0	16809	1087	38	1	1327	1	TUBB2B	6	3227752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98351	3227752	167887315	6982	17299											
SLC22A23	63027	broad.mit.edu	37	chr6	3290032	3290032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaatgttcttccacaGgttccgtgtccccaccacct	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3290032G>T	ENST00000406686.3	-	6	1278	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	SLC22A23_ENST00000436008.2_Missense_Mutation_p.L427M|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	427					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TTCTTCCACAGGTTCCGTGTC	0.587																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1279-1281)Ctg>Atg		solute carrier family 22, member 23							166	126	140					6																	3290032		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3290032G>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1279C>A	6.37:g.3290032G>T	ENSP00000385028:p.Leu427Met					SLC22A23_ENST00000406686.3_Missense_Mutation_p.L427M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|PSMG4_ENST00000451246.2_Intron	p.L427M			A1A5C7	S22AN_HUMAN			6	1741	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	427					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1279C>A	CCDS47363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.676299|3.676299	0.67928|0.67928	.|.	.|.	ENSG00000180822|ENSG00000137266	ENST00000454610|ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	.|T;T;T;T;T;T	.|0.61510	.|0.1;0.1;0.1;0.1;0.1;0.1	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.080436	.|0.52532	.|D	.|0.000078	.|T	.|0.51244	.|0.1663	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.66716	.|0.946;0.946	.|T	.|0.43540	.|-0.9385	.|10	.|0.18276	.|T	.|0.48	.|-14.0855	10.955|10.955	0.47351|0.47351	0.0867:0.0:0.9133:0.0|0.0867:0.0:0.9133:0.0	.|.	.|427;427	.|C9J4Z0;A1A5C7	.|.;S22AN_HUMAN	.|M	-1|427;427;146;146;255;253	.|ENSP00000410245:L427M;ENSP00000385028:L427M;ENSP00000369657:L146M;ENSP00000419463:L146M;ENSP00000418134:L255M;ENSP00000418985:L253M	.|ENSP00000369657:L146M	.|L	+|-	.|1	.|2	PSMG4|SLC22A23	3235031|3235031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	6.097000|6.097000	0.71452|0.71452	2.398000|2.398000	0.81561|0.81561	0.561000|0.561000	0.74099|0.74099	.|CTG		0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		37	178	1	0	3.09479e-21	1	3.48195e-21	37	178					T	3290032	G	T	3290032	3	4	79	1	0	0	0	0	1	0	0	0	14502	991	35	3	801	3	SLC22A23	6	3290032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62280	3290032	167825035	6983	17300											
FAM50B	26240	broad.mit.edu	37	chr6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagctggccaagcgccaGcacctggaggagcagcggct	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	92						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(274-276)caG>caT		family with sequence similarity 50, member B							12	17	15					6																	3850321		2197	4287	6484	SO:0001583	missense	26240					nucleus		g.chr6:3850321G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.276G>T	6.37:g.3850321G>T	ENSP00000369627:p.Gln92His					FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H	p.Q92H			Q9Y247	FA50B_HUMAN			1	702	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	92					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.276G>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232500	0.22626	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.4	0.595	0.17490	.	0.124634	0.52532	D	0.000069	T	0.25901	0.0631	N	0.24115	0.695	0.32716	N	0.510942	P	0.38370	0.628	P	0.50314	0.637	T	0.13629	-1.0502	9	0.52906	T	0.07	-9.468	8.009	0.30342	0.3786:0.0:0.6214:0.0	.	92	Q9Y247	FA50B_HUMAN	H	92	.	ENSP00000369625:Q92H	Q	+	3	2	FAM50B	3795320	1.000000	0.71417	0.805000	0.32314	0.035000	0.12851	2.188000	0.42612	0.230000	0.21059	0.485000	0.47835	CAG		0.682	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		18	86	1	0	1.99824e-07	1	2.07512e-07	18	86					T	3850321	G	T	3850321	3	4	79	1	0	0	0	0	1	0	0	0	5603	962	34	3	278	3	FAM50B	6	3850321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560289	3850321	167264746	6984	17301											
PRPF4B	8899	broad.mit.edu	37	chr6	4060752	4060752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtaagaaagtacaccagCtaaaggacttgttggaccag	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Silent_p.L962L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	976	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)			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)				AGTACACCAGCTAAAGGACTT	0.448																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(2926-2928)Cta>Tta		pre-mRNA processing factor 4B							64	58	60					6																	4060752		2203	4300	6503	SO:0001819	synonymous_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4060752C>T	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.2926C>T	6.37:g.4060752C>T						PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Silent_p.L962L	p.L976L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			15	3026	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	976			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	37	c.2926C>T	CCDS4488.1																																																																																				0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			19	177	0	0	0	1	0	19	177					T	4060752	C	T	4060752	2	4	79	1	0	0	0	0	0	0	0	1	12620	796	28	2		2	PRPF4B	6	4060752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210431	4060752	167054315	6985	17302											
PECI	10455	broad.mit.edu	37	chr6	4130619	4130619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattacctcagtgtttatgGcatttttctttttgggccgg	9	8	2	0	rs149056651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4130619G>A	ENST00000380118.3	-	4	524	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	163	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGTGTTTATGGCATTTTTCTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20935	0.0		0.0	False		,,,				2504	0.001					ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(397-399)gCc>gTc		enoyl-CoA delta isomerase 2							183	156	165					6																	4130619		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130619G>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.488C>T	6.37:g.4130619G>A	ENSP00000369461:p.Ala163Val					ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.A163V	p.A133V			O75521	ECI2_HUMAN			4	683	-			163					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.398C>T	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937167	0.73557	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.45	5.95	5.95	0.96441	Crotonase, core (1);	0.336949	0.34291	N	0.004084	D	0.82375	0.5023	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88447	0.3046	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	163	O75521	ECI2_HUMAN	V	163;133;133;133;210	ENSP00000369461:A163V;ENSP00000369468:A133V;ENSP00000354737:A133V;ENSP00000420309:A133V;ENSP00000417459:A210V	ENSP00000354737:A133V	A	-	2	0	ECI2	4075618	1.000000	0.71417	0.652000	0.29579	0.193000	0.23685	7.516000	0.81772	2.825000	0.97269	0.655000	0.94253	GCC		0.428	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		49	233	0	0	0	1	0	49	233					A	4130619	G	A	4130619	3	1	79	1	0	0	0	0	1	0	0	0	11758	1203	42	2	724	2	PECI	6	4130619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69867	4130619	166984448	6986	17303											
CDYL	9425	broad.mit.edu	37	chr6	4892303	4892303	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaacacagctccatctctCtccagccggaagaacatgga	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	181	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCCATCTCTCTCCAGCCGGA	0.537																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(541-543)ctC>ctA		chromodomain protein, Y-like							86	88	87					6																	4892303		2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892303C>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.543C>A	6.37:g.4892303C>A						CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR	p.L181L			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	674	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	181					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.543C>A																																																																																					0.537	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		100	357	1	0	5.87852e-30	1	6.88333e-30	100	357					A	4892303	C	A	4892303	2	1	79	1	0	0	0	0	0	0	0	1	3194	900	32	3		3	CDYL	6	4892303	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	761684	4892303	166222764	6987	17304											
RPP40	10799	broad.mit.edu	37	chr6	5000852	5000852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgtattgtatgttagTgcatagcaagaacctggaag	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000380051.2	-	3	326	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	94					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTATGTTAGTGCATAGCAAG	0.299																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(280-282)gcA>gcG		ribonuclease P/MRP 40kDa subunit							75	83	80					6																	5000852		2203	4300	6503	SO:0001819	synonymous_variant	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5000852T>C	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.282A>G	6.37:g.5000852T>C						RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	p.A94A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			3	326	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	94					Q5VX97|Q8WVK8	Silent	SNP	ENST00000380051.2	37	c.282A>G	CCDS34333.1																																																																																				0.299	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		67	263	0	0	0	1	0	67	263					C	5000852	T	C	5000852	2	2	79	1	0	0	0	0	0	0	0	1	13664	1683	59	4		4	RPP40	6	5000852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108549	5000852	166114215	6988	17305											
LYRM4	57128	broad.mit.edu	37	chr6	5109689	5109689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtctcgattctcaatgaTcagcttgtcagttgaataca	7	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000330636.4	-	3	449	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000468929.1_Nonstop_Mutation_p.*41W|LYRM4_ENST00000606472.1_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	82					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562																																					NSCLC(130;1006 2426 17608 36797)	ENST00000468929.1																			0				endometrium(1)	1						c.(121-123)tgA>tgG		LYR motif containing 4							144	133	137					6																	5109689		2203	4300	6503	SO:0001583	missense	57128					mitochondrion|nucleus		g.chr6:5109689T>C	AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.244A>G	6.37:g.5109689T>C	ENSP00000418787:p.Ile82Val					LYRM4_ENST00000330636.4_Missense_Mutation_p.I82V|LYRM4_ENST00000464010.1_3'UTR	p.*41W			Q9HD34	LYRM4_HUMAN			2	131	-	Ovarian(93;0.11)	all_hematologic(90;0.0901)	0					A8K543|Q5XKP1	Nonstop_Mutation	SNP	ENST00000330636.4	37	c.123A>G	CCDS4493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.580|7.580	0.668632|0.668632	0.14776|0.14776	.|.	.|.	ENSG00000214113|ENSG00000214113	ENST00000330636|ENST00000468929	T|.	0.30448|.	1.53|.	5.42|5.42	-7.49|-7.49	0.01355|0.01355	.|.	0.389310|.	0.17005|.	U|.	0.190765|.	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.22787|0.22787	N|N	0.99874|0.99874	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.22243|.	-1.0222|.	9|.	0.02654|.	T|.	1|.	.|.	17.4863|17.4863	0.87689|0.87689	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	82|.	Q9HD34|.	LYRM4_HUMAN|.	V|W	82|41	ENSP00000418787:I82V|.	ENSP00000418787:I82V|.	I|X	-|-	1|3	0|0	LYRM4|LYRM4	5054688|5054688	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.949000|0.949000	0.60115|0.60115	-1.611000|-1.611000	0.02062|0.02062	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	ATC|TGA		0.562	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		95	532	0	0	0	1	0	95	532					C	5109689	T	C	5109689	3	2	79	1	0	0	0	0	1	0	0	0	9160	1435	50	4	35	4	LYRM4	6	5109689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108837	5109689	166005378	6989	17306											
NRN1	51299	broad.mit.edu	37	chr6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcgggtagttggccaTgctgtcgcccagcttgagca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232). {ECO:0000305}.	nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(145-147)Atg>Gtg		neuritin 1							158	133	142					6																	6002641		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:6002641T>C	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.145A>G	6.37:g.6002641T>C	ENSP00000244766:p.Met49Val					NRN1_ENST00000495850.1_5'UTR	p.M49V	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	362	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	49	SM -> TW (in Ref. 3; AAP97232).				B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.145A>G	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG		0.617	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			107	454	0	0	0	1	0	107	454					C	6002641	T	C	6002641	3	2	79	1	0	0	0	0	1	0	0	0	10700	1464	51	4	291	4	NRN1	6	6002641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	892952	6002641	165112426	6990	17307											
NRN1	51299	broad.mit.edu	37	chr6	6006979	6006979	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgttcaacttaagtcCcatcctacgtttagtcaaac	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6006979C>A	ENST00000244766.2	-	1	221	c.4G>T	c.(4-6)Gga>Tga	p.G2*		NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	2					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		AACTTAAGTCCCATCCTACGT	0.507																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(4-6)Gga>Tga		neuritin 1							96	93	94					6																	6006979		2203	4300	6503	SO:0001587	stop_gained	51299					anchored to membrane|plasma membrane		g.chr6:6006979C>A	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.4G>T	6.37:g.6006979C>A	ENSP00000244766:p.Gly2*						p.G2*	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	1	221	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	2					B2RA93|Q7Z4Y1	Nonsense_Mutation	SNP	ENST00000244766.2	37	c.4G>T	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	39	7.833904	0.98516	.	.	ENSG00000124785	ENST00000244766	.	.	.	5.01	5.01	0.66863	.	0.144801	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9803	17.2894	0.87150	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000244766:G2X	G	-	1	0	NRN1	5951978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.873000	0.69644	2.333000	0.79357	0.561000	0.74099	GGA		0.507	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			11	585	1	0	2.27111e-07	1	2.35674e-07	11	585					A	6006979	C	A	6006979	4	1	79	1	0	0	0	0	0	1	0	0	10700	632	22	3	436	3	NRN1	6	6006979	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	6006979	165108088	6991	17308											
F13A1	2162	broad.mit.edu	37	chr6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcactcaccaatgacgtAttccaccctgaagagatccc	7	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					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)			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)	CCAATGACGTATTCCACCCTG	0.488																																						ENST00000264870.3																			0				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						c.(310-312)Tac>Cac		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						179	143	156					6																	6305593		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.chr6:6305593A>G	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.310T>C	6.37:g.6305593A>G	ENSP00000264870:p.Tyr104His						p.Y104H	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	575	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	104					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.310T>C	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224353	0.79576	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84800	-1.9;-1.9	5.57	5.57	0.84162	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.061981	0.64402	D	0.000002	D	0.88706	0.6509	M	0.63428	1.95	0.43637	D	0.996032	D	0.76494	0.999	D	0.75020	0.985	D	0.89982	0.4101	10	0.62326	D	0.03	.	13.6975	0.62589	1.0:0.0:0.0:0.0	.	104	P00488	F13A_HUMAN	H	104;104;142	ENSP00000264870:Y104H;ENSP00000413334:Y104H	ENSP00000264870:Y104H	Y	-	1	0	F13A1	6250592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.254000	0.65457	2.117000	0.64856	0.528000	0.53228	TAC		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		47	231	0	0	0	1	0	47	231					G	6305593	A	G	6305593	3	3	79	1	0	0	0	0	1	0	0	0	5358	449	16	4	1940	4	F13A1	6	6305593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298614	6305593	164809474	6992	17309											
RREB1	6239	broad.mit.edu	37	chr6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcctctgaaacgtaggCgattgtcctccaagaggaaa	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000349384.6	+	7	813	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(499-501)Cga>Tga		ras responsive element binding protein 1							138	130	133					6																	7211110		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211110C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.499C>T	6.37:g.7211110C>T	ENSP00000305560:p.Arg167*					RREB1_ENST00000349384.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*	p.R167*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			7	1036	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	167					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.499C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427465	0.83667	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.29	4.41	0.53225	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4759	12.2018	0.54331	0.3093:0.6907:0.0:0.0	.	.	.	.	X	167	.	ENSP00000335574:R167X	R	+	1	2	RREB1	7156109	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.004000	0.40854	1.228000	0.43614	0.585000	0.79938	CGA		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			107	508	0	0	0	1	0	107	508					T	7211110	C	T	7211110	4	4	79	1	0	0	0	0	0	1	0	0	13729	760	27	1	513	1	RREB1	6	7211110	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	905517	7211110	163903957	6993	17310											
RREB1	6239	broad.mit.edu	37	chr6	7229595	7229595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaagctgcttccctaggCggttctctcacagttctccc	8	15	3	0	rs140980354		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000349384.6	+	10	1577	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379938.2_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	421					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCCCTAGGCGGTTCTCTCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18614	0.0		0.001	False		,,,				2504	0.0					ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1261-1263)ggC>ggT		ras responsive element binding protein 1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	57	52	53		1263,1263,1263,1263	-1.4	0.1	6	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	421/1688,421/1743,421/1477,421/1688	7229595	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229595C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1263C>T	6.37:g.7229595C>T						RREB1_ENST00000349384.6_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G	p.G421G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1800	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	421					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1263C>T	CCDS34336.1																																																																																				0.577	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			66	260	0	0	0	1	0	66	260					T	7229595	C	T	7229595	2	4	79	1	0	0	0	0	0	0	0	1	13729	755	27	1		1	RREB1	6	7229595	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18485	7229595	163885472	6994	17311											
RREB1	6239	broad.mit.edu	37	chr6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcccctggtcacaccacGgacggtggtggccacctcca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000349384.6	+	10	1861	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379938.2_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	516	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACACCACGGACGGTGGTG	0.677																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1546-1548)cGg>cTg		ras responsive element binding protein 1							74	89	84					6																	7229879		2203	4299	6502	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229879G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1547G>T	6.37:g.7229879G>T	ENSP00000305560:p.Arg516Leu					RREB1_ENST00000349384.6_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L	p.R516L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2084	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	516			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1547G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.58;2.53;2.58;2.55;2.78	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.28532	0.0706	M	0.69823	2.125	0.50171	D	0.999857	D;D;D	0.71674	0.992;0.998;0.997	P;P;P	0.62298	0.882;0.9;0.851	T	0.00998	-1.1486	10	0.52906	T	0.07	-31.7759	19.7629	0.96329	0.0:0.0:1.0:0.0	.	516;516;516	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	516	ENSP00000369265:R516L;ENSP00000369270:R516L;ENSP00000305560:R516L;ENSP00000335574:R516L;ENSP00000419511:R516L	ENSP00000335574:R516L	R	+	2	0	RREB1	7174878	1.000000	0.71417	0.101000	0.21167	0.862000	0.49288	9.302000	0.96175	2.666000	0.90696	0.561000	0.74099	CGG		0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			65	1287	1	0	3.39706e-21	1	3.82169e-21	65	1287					T	7229879	G	T	7229879	3	4	79	1	0	0	0	0	1	0	0	0	13729	1116	39	3	1573	3	RREB1	6	7229879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284	7229879	163885188	6995	17312											
RREB1	6239	broad.mit.edu	37	chr6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatccgccacctgcgcaCgcacagtggggagcggccct	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000349384.6	+	10	2389	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379938.2_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	692					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGCGCACGCACAGTGGG	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2074-2076)aCg>aTg		ras responsive element binding protein 1							64	58	60					6																	7230407		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230407C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2075C>T	6.37:g.7230407C>T	ENSP00000305560:p.Thr692Met					RREB1_ENST00000349384.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M|RREB1_ENST00000334984.6_Missense_Mutation_p.T692M	p.T692M	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2612	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	692					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2075C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500948	0.64298	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.54	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.25606	0.0623	L	0.39020	1.185	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.03597	-1.1021	10	0.54805	T	0.06	-40.0095	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	692;692;692	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	692	ENSP00000369265:T692M;ENSP00000369270:T692M;ENSP00000305560:T692M;ENSP00000335574:T692M;ENSP00000419511:T692M	ENSP00000335574:T692M	T	+	2	0	RREB1	7175406	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.656000	0.61483	1.570000	0.49709	0.655000	0.94253	ACG		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			46	270	0	0	0	1	0	46	270					T	7230407	C	T	7230407	3	4	79	1	0	0	0	0	1	0	0	0	13729	536	19	1	2101	1	RREB1	6	7230407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	7230407	163884660	6996	17313											
RREB1	6239	broad.mit.edu	37	chr6	7232026	7232026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccagaagacaagctgCtgagggccaagcggaactcg	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000349384.6	+	10	4008	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379938.2_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1232					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACAAGCTGCTGAGGGCCAA	0.622																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3694-3696)Ctg>Ttg		ras responsive element binding protein 1							67	48	55					6																	7232026		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232026C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3694C>T	6.37:g.7232026C>T						RREB1_ENST00000349384.6_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L	p.L1232L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4231	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1232					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3694C>T	CCDS34336.1																																																																																				0.622	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			38	160	0	0	0	1	0	38	160					T	7232026	C	T	7232026	2	4	79	1	0	0	0	0	0	0	0	1	13729	796	28	2		2	RREB1	6	7232026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1619	7232026	163883041	6997	17314											
RREB1	6239	broad.mit.edu	37	chr6	7247318	7247318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcctcagagaagagcgaCgatgacaagaaaccaaagac	11	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000349384.6	+	11	4784	c.4470C>T	c.(4468-4470)gaC>gaT	p.D1490D	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Silent_p.D1545D|RREB1_ENST00000379933.3_Silent_p.D1490D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1490					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGAGCGACGATGACAAGA	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4633-4635)gaC>gaT		ras responsive element binding protein 1							79	75	76					6																	7247318		2203	4299	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247318C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4470C>T	6.37:g.7247318C>T						RREB1_ENST00000349384.6_Silent_p.D1490D|RREB1_ENST00000379933.3_Silent_p.D1490D|RREB1_ENST00000334984.6_Intron	p.D1545D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			12	5172	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1490					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.4635C>T	CCDS34336.1																																																																																				0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			50	185	0	0	0	1	0	50	185					T	7247318	C	T	7247318	2	4	79	1	0	0	0	0	0	0	0	1	13729	535	19	1		1	RREB1	6	7247318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15292	7247318	163867749	6998	17315											
RIOK1	83732	broad.mit.edu	37	chr6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttatcagaatccaaggctCgggagttgtacctgcaggtc	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	301	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATCCAAGGCTCGGGAGTTGTA	0.408																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(901-903)Cgg>Tgg		RIO kinase 1							166	158	161					6																	7404697		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7404697C>T	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.901C>T	6.37:g.7404697C>T	ENSP00000369162:p.Arg301Trp						p.R301W	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			10	1408	+	Ovarian(93;0.0418)		301			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.901C>T	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683615	0.88639	.	.	ENSG00000124784	ENST00000379834	T	0.07444	3.19	5.3	5.3	0.74995	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.08638	-1.0712	10	0.66056	D	0.02	-13.397	13.3026	0.60334	0.158:0.842:0.0:0.0	.	301	Q9BRS2	RIOK1_HUMAN	W	301	ENSP00000369162:R301W	ENSP00000369162:R301W	R	+	1	2	RIOK1	7349696	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.878000	0.48515	2.627000	0.88993	0.655000	0.94253	CGG		0.408	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		128	631	0	0	0	1	0	128	631					T	7404697	C	T	7404697	3	4	79	1	0	0	0	0	1	0	0	0	13427	875	31	1	939	1	RIOK1	6	7404697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157379	7404697	163710370	6999	17316											
DSP	1832	broad.mit.edu	37	chr6	7563014	7563014	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatcaaagccgacctgGtacttgtctgtgtttcattt	7	9	3	0	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCGACCTGGTACTTGTCTG	0.468																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.e5+1		desmoplakin							107	106	106					6																	7563014		2203	4300	6503	SO:0001630	splice_region_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7563014G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.726+1G>A	6.37:g.7563014G>A						DSP_ENST00000418664.2_Splice_Site		NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	5	1067	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)						B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37		CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644213	0.87859	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7508013	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.283000	0.95860	2.713000	0.92767	0.655000	0.94253	.		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Intron	71	312	0	0	0	1	0	71	312					A	7563014	G	A	7563014	5	1	79	1	0	0	0	0	0	0	1	0	4797	1275	44	2	745	2	DSP	6	7563014	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158317	7563014	163552053	7000	17317											
DSP	1832	broad.mit.edu	37	chr6	7565651	7565651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcattcaggccacGtccagggagatcatgtggat	11	10	3	2	rs368051840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCAGGCCACGTCCAGGGAGA	0.507																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(835-837)acG>acA		desmoplakin							146	115	126					6																	7565651		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7565651G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.837G>A	6.37:g.7565651G>A						DSP_ENST00000418664.2_Silent_p.T279T	p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	7	1178	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	279			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.837G>A	CCDS4501.1																																																																																				0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		34	357	0	0	0	1	0	34	357					A	7565651	G	A	7565651	2	1	79	1	0	0	0	0	0	0	0	1	4797	1132	40	1		1	DSP	6	7565651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637	7565651	163549416	7001	17318											
DSP	1832	broad.mit.edu	37	chr6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctggcctcatacacctcagGactggaaactctgctgaaca	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	971	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACACCTCAGGACTGGAAACT	0.418																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2911-2913)gGa>gTa		desmoplakin							138	130	133					6																	7578046		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578046G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2912G>T	6.37:g.7578046G>T	ENSP00000369129:p.Gly971Val					DSP_ENST00000418664.2_Missense_Mutation_p.G971V	p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	21	3253	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	971			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2912G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008277	0.75046	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78595	-1.19;2.07	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	T	0.82038	0.4950	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76318	-0.3003	10	0.14656	T	0.56	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1018;971	Q4LE79;P15924	.;DESP_HUMAN	V	971;971;776	ENSP00000369129:G971V;ENSP00000396591:G971V	ENSP00000369129:G971V	G	+	2	0	DSP	7523045	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GGA		0.418	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		44	514	1	0	2.43139e-17	1	2.68212e-17	44	514					T	7578046	G	T	7578046	3	4	79	1	0	0	0	0	1	0	0	0	4797	1174	41	3	2994	3	DSP	6	7578046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12395	7578046	163537021	7002	17319											
DSP	1832	broad.mit.edu	37	chr6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggcagagtgttcccagTtcaaagcgaagcttgcgagc	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1072	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTTCCCAGTTCAAAGCGAA	0.498																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3214-3216)Ttc>Ctc		desmoplakin							69	74	72					6																	7579637		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579637T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3214T>C	6.37:g.7579637T>C	ENSP00000369129:p.Phe1072Leu					DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3555	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1072			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3214T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854328	0.32791	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71222	-0.55;-0.55	5.67	5.67	0.87782	.	0.088267	0.49916	D	0.000125	T	0.18215	0.0437	N	0.02539	-0.55	0.33600	D	0.602217	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09552	-1.0669	10	0.02654	T	1	.	8.5066	0.33190	0.0:0.1149:0.0:0.8851	.	1119;1072	Q4LE79;P15924	.;DESP_HUMAN	L	1072;1072;877	ENSP00000369129:F1072L;ENSP00000396591:F1072L	ENSP00000369129:F1072L	F	+	1	0	DSP	7524636	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.058000	0.57463	2.159000	0.67721	0.454000	0.30748	TTC		0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		21	349	0	0	0	1	0	21	349					C	7579637	T	C	7579637	3	2	79	1	0	0	0	0	1	0	0	0	4797	1725	60	4	3304	4	DSP	6	7579637	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1591	7579637	163535430	7003	17320											
DSP	1832	broad.mit.edu	37	chr6	7580632	7580632	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatctcacccgagaaaacagGagcttatctgaagaaataaa	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1403	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAAAACAGGAGCTTATCTG	0.493																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4207-4209)agG>agA		desmoplakin							63	66	65					6																	7580632		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580632G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4209G>A	6.37:g.7580632G>A						DSP_ENST00000418664.2_Intron	p.R1403R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4550	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1403			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.4209G>A	CCDS4501.1																																																																																				0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		74	290	0	0	0	1	0	74	290					A	7580632	G	A	7580632	2	1	79	1	0	0	0	0	0	0	0	1	4797	1165	41	2		2	DSP	6	7580632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	7580632	163534435	7004	17321											
DSP	1832	broad.mit.edu	37	chr6	7582959	7582959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtgaaaatcaaagtcCtggagcaagacaaggcaagg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1822	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCAAAGTCCTGGAGCAAGA	0.478																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5464-5466)Ctg>Ttg		desmoplakin							118	125	123					6																	7582959		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7582959C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5464C>T	6.37:g.7582959C>T						DSP_ENST00000418664.2_Silent_p.L1223L	p.L1822L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5805	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1822			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5464C>T	CCDS4501.1																																																																																				0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		111	520	0	0	0	1	0	111	520					T	7582959	C	T	7582959	2	4	79	1	0	0	0	0	0	0	0	1	4797	680	24	2		2	DSP	6	7582959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2327	7582959	163532108	7005	17322											
DSP	1832	broad.mit.edu	37	chr6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgtgcaaaatcaactctaGaggcagaaaccagggtgaaa	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1844	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAACTCTAGAGGCAGAAAC	0.498																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5530-5532)Gag>Aag		desmoplakin							108	111	110					6																	7583025		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583025G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5530G>A	6.37:g.7583025G>A	ENSP00000369129:p.Glu1844Lys					DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	p.E1844K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5871	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1844			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5530G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765989	0.69878	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.103621	0.41823	D	0.000808	T	0.58538	0.2129	N	0.16903	0.455	0.31119	N	0.709018	D;B	0.76494	0.999;0.247	P;B	0.60541	0.876;0.091	T	0.60772	-0.7197	10	0.41790	T	0.15	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	1292;1844	Q4LE79;P15924	.;DESP_HUMAN	K	1844;1245	ENSP00000369129:E1844K;ENSP00000396591:E1245K	ENSP00000369129:E1844K	E	+	1	0	DSP	7528024	1.000000	0.71417	0.145000	0.22337	0.902000	0.53008	9.860000	0.99555	2.410000	0.81850	0.650000	0.86243	GAG		0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		103	497	0	0	0	1	0	103	497					A	7583025	G	A	7583025	3	1	79	1	0	0	0	0	1	0	0	0	4797	943	33	2	5624	2	DSP	6	7583025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	7583025	163532042	7006	17323											
DSP	1832	broad.mit.edu	37	chr6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaagaaagatgcattaaGgatgaggaaacagggctctg	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2435	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATGCATTAAGGATGAGGAAA	0.413																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7303-7305)aaG>aaT		desmoplakin							96	102	100					6																	7584800		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584800G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7305G>T	6.37:g.7584800G>T	ENSP00000369129:p.Lys2435Asn					DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	p.K2435N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7646	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2435			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7305G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231396	0.22626	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68331	-0.32;-0.32	5.7	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.38957	0.1060	L	0.43152	1.355	0.23492	N	0.997568	D;P	0.60160	0.987;0.922	P;B	0.45712	0.491;0.33	T	0.33727	-0.9857	10	0.19590	T	0.45	.	9.8562	0.41088	0.3409:0.0:0.6591:0.0	.	1883;2435	Q4LE79;P15924	.;DESP_HUMAN	N	2435;1836	ENSP00000369129:K2435N;ENSP00000396591:K1836N	ENSP00000369129:K2435N	K	+	3	2	DSP	7529799	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	0.281000	0.18810	0.337000	0.23665	0.655000	0.94253	AAG		0.413	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		105	432	1	0	4.31088e-60	1	5.4178e-60	105	432					T	7584800	G	T	7584800	3	4	79	1	0	0	0	0	1	0	0	0	4797	991	35	3	7399	3	DSP	6	7584800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1775	7584800	163530267	7007	17324											
DSP	1832	broad.mit.edu	37	chr6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagaagatgtcagcagCagaggcagtgaaagaaaaat	12	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2710	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGTCAGCAGCAGAGGCAGTG	0.552																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8128-8130)gCa>gTa		desmoplakin							134	136	135					6																	7585624		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585624C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8129C>T	6.37:g.7585624C>T	ENSP00000369129:p.Ala2710Val					DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	p.A2710V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8470	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2710			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8129C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.73513	0.3596	M	0.62723	1.935	0.34917	D	0.748094	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.871	T	0.66893	-0.5808	10	0.16896	T	0.51	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2158;2710	Q4LE79;P15924	.;DESP_HUMAN	V	2710;2111	ENSP00000369129:A2710V;ENSP00000396591:A2111V	ENSP00000369129:A2710V	A	+	2	0	DSP	7530623	1.000000	0.71417	0.908000	0.35775	0.422000	0.31414	6.055000	0.71103	2.818000	0.97014	0.655000	0.94253	GCA		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		141	753	0	0	0	1	0	141	753					T	7585624	C	T	7585624	3	4	79	1	0	0	0	0	1	0	0	0	4797	710	25	2	8223	2	DSP	6	7585624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	7585624	163529443	7008	17325											
SNRNP48	154007	broad.mit.edu	37	chr6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttaggaatgaagaaaggCgatcagcttcagtagattca	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	274					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(820-822)Cga>Tga		small nuclear ribonucleoprotein 48kDa (U11/U12)							117	113	114					6																	7606277		2203	4300	6503	SO:0001587	stop_gained	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606277C>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.820C>T	6.37:g.7606277C>T	ENSP00000339834:p.Arg274*						p.R274*	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			8	879	+			274					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Nonsense_Mutation	SNP	ENST00000342415.5	37	c.820C>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389206	0.95988	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.75	2.96	0.34315	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.92	4.1917	0.10424	0.286:0.4992:0.1385:0.0763	.	.	.	.	X	274	.	ENSP00000339834:R274X	R	+	1	2	SNRNP48	7551276	0.983000	0.35010	0.295000	0.24960	0.948000	0.59901	0.413000	0.21148	0.337000	0.23665	-0.152000	0.13540	CGA		0.413	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		67	388	0	0	0	1	0	67	388					T	7606277	C	T	7606277	4	4	79	1	0	0	0	0	0	1	0	0	14907	760	27	1	850	1	SNRNP48	6	7606277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20653	7606277	163508790	7009	17326											
GCNT2	2651	broad.mit.edu	37	chr6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcaacacctgcgggcaaGactttcccctgaaaaccaac	6	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	194					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGCGGGCAAGACTTTCCCCT	0.527																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(580-582)Gac>Tac		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							45	48	47					6																	10529724		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529724G>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.580G>T	6.37:g.10529724G>T	ENSP00000368917:p.Asp194Tyr					GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y	p.D194Y			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1136	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	194						Missense_Mutation	SNP	ENST00000379597.3	37	c.580G>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167435	0.78339	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73714	-0.3896	10	0.87932	D	0	-15.1425	19.2323	0.93845	0.0:0.0:1.0:0.0	.	194;193	Q8N0V5;Q08M29	GNT2A_HUMAN;.	Y	194	ENSP00000419411:D194Y;ENSP00000368917:D194Y	ENSP00000368917:D194Y	D	+	1	0	GCNT2	10637710	1.000000	0.71417	0.979000	0.43373	0.542000	0.35054	9.640000	0.98453	2.636000	0.89361	0.655000	0.94253	GAC		0.527	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		26	259	1	0	5.61819e-17	1	6.18885e-17	26	259					T	10529724	G	T	10529724	3	4	79	1	0	0	0	0	1	0	0	0	6329	942	33	3	582	3	GCNT2	6	10529724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2923447	10529724	160585343	7010	17327											
GCNT2	2651	broad.mit.edu	37	chr6	10556976	10556976	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccatcatcactttgacaCctttgcaaggctcttcaggg	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10556976C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.T107I			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CACTTTGACACCTTTGCAAGG	0.418																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(319-321)aCc>aTc		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							94	90	92					6																	10556976		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556976C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26907C>T	6.37:g.10556976C>T						GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.T107I	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	737	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	109						Missense_Mutation	SNP	ENST00000379597.3	37	c.320C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851425	0.71719	.	.	ENSG00000111846	ENST00000316170	T	0.11277	2.79	4.89	4.89	0.63831	.	.	.	.	.	T	0.23133	0.0559	M	0.87900	2.915	0.80722	D	1	P	0.48407	0.91	P	0.54431	0.752	T	0.02917	-1.1094	9	0.35671	T	0.21	.	18.0081	0.89215	0.0:1.0:0.0:0.0	.	107	Q06430	GNT2B_HUMAN	I	107	ENSP00000314844:T107I	ENSP00000314844:T107I	T	+	2	0	GCNT2	10664962	0.998000	0.40836	0.983000	0.44433	0.971000	0.66376	3.578000	0.53892	2.408000	0.81797	0.655000	0.94253	ACC		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		88	356	0	0	0	1	0	88	356					T	10556976	C	T	10556976	1	4	79	0	1	0	0	0	0	0	0	0	6329	507	18	2		2	GCNT2	6	10556976	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27252	10556976	160558091	7011	17328											
PAK1IP1	55003	broad.mit.edu	37	chr6	10697608	10697608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctcacactgcctccttgTcagcagtagctgtaaatagt	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10697608T>C	ENST00000379568.3	+	2	427	c.136T>C	c.(136-138)Tca>Cca	p.S46P	C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000379586.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	46					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGCCTCCTTGTCAGCAGTAGC	0.428																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(136-138)Tca>Cca		PAK1 interacting protein 1							211	212	212					6																	10697608		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10697608T>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"WD repeat domain containing"	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.136T>C	6.37:g.10697608T>C	ENSP00000368887:p.Ser46Pro						p.S46P	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			2	427	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	46					Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.136T>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.764973	0.69878	.	.	ENSG00000111845	ENST00000379568	T	0.61859	0.07	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182898	0.48767	D	0.000172	T	0.67979	0.2951	M	0.79805	2.47	0.45648	D	0.998575	D	0.69078	0.997	D	0.70227	0.968	T	0.68780	-0.5318	10	0.30854	T	0.27	-14.3107	13.4803	0.61332	0.0:0.0:0.0:1.0	.	46	Q9NWT1	PK1IP_HUMAN	P	46	ENSP00000368887:S46P	ENSP00000368887:S46P	S	+	1	0	PAK1IP1	10805594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.817000	0.55668	2.066000	0.61787	0.528000	0.53228	TCA		0.428	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		15	835	0	0	0	1	0	15	835					C	10697608	T	C	10697608	3	2	79	1	0	0	0	0	1	0	0	0	11442	1667	58	4	142	4	PAK1IP1	6	10697608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140632	10697608	160417459	7012	17329											
TMEM14B	81853	broad.mit.edu	37	chr6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcagggctgctcttcGgcagtctagccggcctgggt	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000379542.5	+	4	303	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000473276.1_Intron|SYCP2L_ENST00000543878.1_Intron|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000467317.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000461342.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000379530.3_Intron	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	46						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGCTCTTCGGCAGTCTAGC	0.542																																						ENST00000467317.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11						c.(136-138)Ggc>Agc		transmembrane protein 14B							130	114	120					6																	10751401		2202	4300	6502	SO:0001583	missense	81853					integral to membrane		g.chr6:10751401G>A	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.136G>A	6.37:g.10751401G>A	ENSP00000368858:p.Gly46Ser					TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000379542.5_Missense_Mutation_p.G46S|TMEM14B_ENST00000481240.1_Intron	p.G46S			Q9NUH8	TM14B_HUMAN			4	231	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	46					Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	ENST00000379542.5	37	c.136G>A	CCDS4515.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625308	0.46840	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.66815	-0.23;-0.23;-0.23	4.01	3.14	0.36123	.	0.103324	0.64402	D	0.000003	T	0.63474	0.2514	M	0.70275	2.135	0.80722	D	1	P	0.51791	0.948	P	0.52267	0.694	T	0.67229	-0.5723	10	0.52906	T	0.07	.	11.473	0.50280	0.0903:0.0:0.9097:0.0	.	46	Q9NUH8	TM14B_HUMAN	S	46	ENSP00000368858:G46S;ENSP00000418730:G46S;ENSP00000420658:G46S	ENSP00000368858:G46S	G	+	1	0	TMEM14B	10859387	1.000000	0.71417	0.040000	0.18447	0.008000	0.06430	7.238000	0.78173	1.037000	0.40024	0.484000	0.47621	GGC		0.542	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	NM_030969		10	450	0	0	0	1	0	10	450					A	10751401	G	A	10751401	3	1	79	1	0	0	0	0	1	0	0	0	16116	1116	39	1	146	1	TMEM14B	6	10751401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53793	10751401	160363666	7013	17330											
GCM2	9247	broad.mit.edu	37	chr6	10874435	10874435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgaaggagaggctgcCctggtgactgtcaccggagg	17	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	438					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAGAGGCTGCCCTGGTGACTG	0.557																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1312-1314)agG>agA		glial cells missing homolog 2 (Drosophila)							44	44	44					6																	10874435		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874435C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1314G>A	6.37:g.10874435C>T						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R438R	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1461	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	438					D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1314G>A	CCDS4517.1																																																																																				0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			52	190	0	0	0	1	0	52	190					T	10874435	C	T	10874435	2	4	79	1	0	0	0	0	0	0	0	1	6326	622	22	2		2	GCM2	6	10874435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123034	10874435	160240632	7014	17331											
GCM2	9247	broad.mit.edu	37	chr6	10874603	10874603	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actttagtggtggtggtgatCacggtttgtagggcaggggc	18	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability). {ECO:0000269|PubMed:21642377}.		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGTGATCACGGTTTGTA	0.557																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1144-1146)gtG>gtT		glial cells missing homolog 2 (Drosophila)							169	163	165					6																	10874603		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874603C>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1146G>T	6.37:g.10874603C>A						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.V382V	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1293	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	382		V -> M (does not affect expression level, transactivational capacity and DNA binding ability).			D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1146G>T	CCDS4517.1																																																																																				0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			128	623	1	0	1.46217e-58	1	1.8345e-58	128	623					A	10874603	C	A	10874603	2	1	79	1	0	0	0	0	0	0	0	1	6326	813	29	3		3	GCM2	6	10874603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	10874603	160240464	7015	17332											
GCM2	9247	broad.mit.edu	37	chr6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagggtgcaggcctgtGtacacaccaccacacccagg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	88					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCAGGCCTGTGTACACACCAC	0.632																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(262-264)aCa>aTa		glial cells missing homolog 2 (Drosophila)							94	78	84					6																	10877453		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877453G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.263C>T	6.37:g.10877453G>A	ENSP00000368805:p.Thr88Ile					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.T88I	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			2	410	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	88					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.263C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362783	0.41902	.	.	ENSG00000124827	ENST00000379491	T	0.74526	-0.85	5.69	3.91	0.45181	.	0.421727	0.30732	N	0.009000	T	0.40272	0.1110	N	0.19112	0.55	0.46678	D	0.999157	B	0.18013	0.025	B	0.18871	0.023	T	0.41161	-0.9524	10	0.59425	D	0.04	-0.6723	6.5058	0.22194	0.0688:0.1309:0.6643:0.136	.	88	O75603	GCM2_HUMAN	I	88	ENSP00000368805:T88I	ENSP00000368805:T88I	T	-	2	0	GCM2	10985439	0.714000	0.27936	0.033000	0.17914	0.873000	0.50193	4.669000	0.61575	0.754000	0.32968	0.650000	0.86243	ACA		0.632	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			82	344	0	0	0	1	0	82	344					A	10877453	G	A	10877453	3	1	79	1	0	0	0	0	1	0	0	0	6326	1377	48	2	1273	2	GCM2	6	10877453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	10877453	160237614	7016	17333											
GCM2	9247	broad.mit.edu	37	chr6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtggttgttggtgttgCgcatggcccagccgctcagg	15	10	1	0	rs200953294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18389	0.001		0.0	False		,,,				2504	0.0					ENST00000379491.4																			1	Substitution - Missense(1)	p.R67H(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(199-201)cGc>cAc		glial cells missing homolog 2 (Drosophila)							97	77	84					6																	10877516		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877516C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.200G>A	6.37:g.10877516C>T	ENSP00000368805:p.Arg67His					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R67H	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			2	347	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	67					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.200G>A	CCDS4517.1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	GCM2	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC		0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			52	305	0	0	0	1	0	52	305					T	10877516	C	T	10877516	3	4	79	1	0	0	0	0	1	0	0	0	6326	768	27	1	1336	1	GCM2	6	10877516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	10877516	160237551	7017	17334											
SYCP2L	221711	broad.mit.edu	37	chr6	10927525	10927525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatgagtgctgaagatgaCcgctgcctaataactctcca	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	455						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGAAGATGACCGCTGCCTAA	0.413																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1363-1365)gaC>gaT		synaptonemal complex protein 2-like							132	128	129					6																	10927525		1967	4165	6132	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10927525C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1365C>T	6.37:g.10927525C>T						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.D455D	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		17	1661	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	455					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1365C>T	CCDS43423.1																																																																																				0.413	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		16	327	0	0	0	1	0	16	327					T	10927525	C	T	10927525	2	4	79	1	0	0	0	0	0	0	0	1	15485	506	18	2		2	SYCP2L	6	10927525	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50009	10927525	160187542	7018	17335											
HIVEP1	3096	broad.mit.edu	37	chr6	12123223	12123223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttcagaatgctctgggCtgtaatcccagtttgcctaa	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3193-3195)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							76	75	75					6																	12123223		1867	4098	5965	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123223C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3195C>T	6.37:g.12123223C>T							p.G1065G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3527	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1065					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3195C>T	CCDS43426.1																																																																																				0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		21	485	0	0	0	1	0	21	485					T	12123223	C	T	12123223	2	4	79	1	0	0	0	0	0	0	0	1	7216	784	28	2		2	HIVEP1	6	12123223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1195698	12123223	158991844	7019	17336											
HIVEP1	3096	broad.mit.edu	37	chr6	12123531	12123531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggagctgaatagaaCggggaagtccgggtctctaa	13	8	1	2	rs545004610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123531C>T	ENST00000379388.2	+	4	3835	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1168					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATAGAACGGGGAAGTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17951	0.0		0.0	False		,,,				2504	0.001					ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3502-3504)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 1							39	39	39					6																	12123531		1831	4078	5909	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123531C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3503C>T	6.37:g.12123531C>T	ENSP00000368698:p.Thr1168Met						p.T1168M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3835	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1168					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3503C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	3.747	-0.052347	0.07362	.	.	ENSG00000095951	ENST00000379388	T	0.30182	1.54	5.72	4.86	0.63082	.	0.231155	0.22308	N	0.061771	T	0.16085	0.0387	L	0.56769	1.78	0.09310	N	0.999999	D	0.56746	0.977	P	0.44597	0.454	T	0.08889	-1.0700	9	.	.	.	-1.3929	7.5367	0.27714	0.0:0.7144:0.1375:0.1481	.	1168	P15822	ZEP1_HUMAN	M	1168	ENSP00000368698:T1168M	.	T	+	2	0	HIVEP1	12231517	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.429000	0.21412	1.428000	0.47296	-0.136000	0.14681	ACG		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		8	236	0	0	0	1	0	8	236					T	12123531	C	T	12123531	3	4	79	1	0	0	0	0	1	0	0	0	7216	536	19	1	3513	1	HIVEP1	6	12123531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	12123531	158991536	7020	17337											
HIVEP1	3096	broad.mit.edu	37	chr6	12124078	12124078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttatgattccagctggCttgaatactctgaatgttcc	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4048-4050)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							68	64	65					6																	12124078		1902	4128	6030	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124078C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4050C>T	6.37:g.12124078C>T							p.G1350G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4382	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1350					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4050C>T	CCDS43426.1																																																																																				0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		14	246	0	0	0	1	0	14	246					T	12124078	C	T	12124078	2	4	79	1	0	0	0	0	0	0	0	1	7216	784	28	2		2	HIVEP1	6	12124078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	12124078	158990989	7021	17338											
HIVEP1	3096	broad.mit.edu	37	chr6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaaagcaccagaagCgggccaaagatgaaaatgga	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1764					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACCAGAAGCGGGCCAAAGA	0.438																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(5290-5292)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 1							90	90	90					6																	12125318		1862	4108	5970	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125318C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5290C>T	6.37:g.12125318C>T	ENSP00000368698:p.Arg1764Trp						p.R1764W	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5622	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1764					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5290C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244506	0.79912	.	.	ENSG00000095951	ENST00000379388	T	0.51071	0.72	5.62	2.69	0.31865	.	0.000000	0.29106	N	0.013133	T	0.64000	0.2559	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72117	-0.4387	9	.	.	.	-24.794	14.6652	0.68901	0.3799:0.6201:0.0:0.0	.	1764	P15822	ZEP1_HUMAN	W	1764	ENSP00000368698:R1764W	.	R	+	1	2	HIVEP1	12233304	1.000000	0.71417	0.937000	0.37676	0.998000	0.95712	3.293000	0.51779	0.673000	0.31224	0.655000	0.94253	CGG		0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		101	462	0	0	0	1	0	101	462					T	12125318	C	T	12125318	3	4	79	1	0	0	0	0	1	0	0	0	7216	759	27	1	5300	1	HIVEP1	6	12125318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1240	12125318	158989749	7022	17339											
HIVEP1	3096	broad.mit.edu	37	chr6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagattcagttatgagCgatctggatatgatcttgaa	10	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6514-6516)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 1							84	91	89					6																	12161698		1948	4148	6096	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161698C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*					HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	p.R2172*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	6846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2172					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.6514C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		94	432	0	0	0	1	0	94	432					T	12161698	C	T	12161698	4	4	79	1	0	0	0	0	0	1	0	0	7216	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36380	12161698	158953369	7023	17340											
EDN1	1906	broad.mit.edu	37	chr6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctggacatcatttgGgtcaacactcccgagtaagt	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	73		Cleavage; by KEL.			artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542																																						ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(217-219)tgG>tgA		endothelin 1							81	75	77					6																	12292728		2203	4300	6503	SO:0001587	stop_gained	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12292728G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.219G>A	6.37:g.12292728G>A	ENSP00000368683:p.Trp73*						p.W73*	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			2	486	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	73				Cleavage; by KEL.	Q96DA1	Nonsense_Mutation	SNP	ENST00000379375.5	37	c.219G>A	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.185874	0.98696	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3417	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000368683:W73X	W	+	3	0	EDN1	12400714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.484000	0.97940	2.736000	0.93811	0.655000	0.94253	TGG		0.542	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		70	356	0	0	0	1	0	70	356					A	12292728	G	A	12292728	4	1	79	1	0	0	0	0	0	1	0	0	4932	1241	43	2	225	2	EDN1	6	12292728	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131030	12292728	158822339	7024	17341											
PHACTR1	221692	broad.mit.edu	37	chr6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctctttctgccacagatCctggcgcccctgtgaaattg	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	223					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(667-669)Cct>Tct		phosphatase and actin regulator 1							46	48	48					6																	13206049		1985	4168	6153	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206049C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.667C>T	6.37:g.13206049C>T	ENSP00000368655:p.Pro223Ser					PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000379345.2_Intron	p.P223S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	796	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	223					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.667C>T		.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378753	0.05000	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.30182	1.54;1.57;1.64	5.05	5.05	0.67936	.	0.186728	0.49916	D	0.000121	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.25719	0.132;0.02;0.035	B;B;B	0.22152	0.038;0.006;0.023	T	0.18461	-1.0336	10	0.25751	T	0.34	-7.4043	11.0496	0.47878	0.0:0.9158:0.0:0.0842	.	292;223;223	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	223;223;292;78	ENSP00000368655:P223S;ENSP00000329880:P223S;ENSP00000397669:P78S	ENSP00000329880:P223S	P	+	1	0	PHACTR1	13314028	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.245000	0.43133	2.607000	0.88179	0.561000	0.74099	CCT		0.562	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		55	209	0	0	0	1	0	55	209					T	13206049	C	T	13206049	3	4	79	1	0	0	0	0	1	0	0	0	11851	855	30	2	689	2	PHACTR1	6	13206049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913321	13206049	157909018	7025	17342											
PHACTR1	221692	broad.mit.edu	37	chr6	13206106	13206106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtcgcctccgctacctCcaaagaaagtcatgatctgt	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206106C>T	ENST00000379350.1	+	7	853	c.724C>T	c.(724-726)Cca>Tca	p.P242S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	242					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCGCTACCTCCAAAGAAAGT	0.592																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(724-726)Cca>Tca		phosphatase and actin regulator 1							58	63	61					6																	13206106		1965	4151	6116	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206106C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.724C>T	6.37:g.13206106C>T	ENSP00000368655:p.Pro242Ser					PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S|PHACTR1_ENST00000379345.2_Intron	p.P242S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	853	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	242					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.724C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.48201	0.82;1.04;1.03	5.22	5.22	0.72569	.	0.098175	0.64402	D	0.000001	T	0.44808	0.1311	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.986;0.994;0.998	T	0.16660	-1.0395	10	0.11485	T	0.65	-6.6846	17.938	0.89018	0.0:1.0:0.0:0.0	.	311;242;242	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	242;242;311;97	ENSP00000368655:P242S;ENSP00000329880:P242S;ENSP00000397669:P97S	ENSP00000329880:P242S	P	+	1	0	PHACTR1	13314085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.310000	0.65780	2.700000	0.92200	0.561000	0.74099	CCA		0.592	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		44	327	0	0	0	1	0	44	327					T	13206106	C	T	13206106	3	4	79	1	0	0	0	0	1	0	0	0	11851	855	30	2	746	2	PHACTR1	6	13206106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	13206106	157908961	7026	17343											
TBC1D7	51256	broad.mit.edu	37	chr6	13316855	13316855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaattggttcacaaagcgtCgggtgatccagtaacagtcg	11	8	1	1	rs549062038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13316855C>T	ENST00000379300.3	-	5	710	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R129Q|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	156	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CACAAAGCGTCGGGTGATCCA	0.428																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(385-387)cGa>cAa		TBC1 domain family, member 7							189	198	195					6																	13316855		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316855C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.467G>A	6.37:g.13316855C>T	ENSP00000368602:p.Arg156Gln					TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R156Q|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q	p.R129Q			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	536	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	156			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.386G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211334	0.79240	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109	T;T;T;T;T;T;T;T;T;T	0.33438	1.54;2.8;2.8;2.8;2.8;2.8;2.8;2.8;1.54;1.41	5.92	5.05	0.67936	Rab-GAP/TBC domain (2);	0.156362	0.56097	D	0.000034	T	0.19005	0.0456	M	0.62723	1.935	0.80722	D	1	P;P;P	0.48230	0.873;0.792;0.907	B;B;B	0.40782	0.34;0.156;0.217	T	0.02713	-1.1120	10	0.28530	T	0.3	-2.6382	14.2193	0.65815	0.0:0.929:0.0:0.071	.	129;129;156	Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;TBCD7_HUMAN	Q	97;156;156;156;129;129;129;156;129;129;156	ENSP00000401438:R156Q;ENSP00000348813:R156Q;ENSP00000368602:R156Q;ENSP00000368609:R129Q;ENSP00000414292:R129Q;ENSP00000404680:R129Q;ENSP00000394425:R156Q;ENSP00000417005:R129Q;ENSP00000412102:R129Q;ENSP00000414101:R156Q	ENSP00000334212:R97Q	R	-	2	0	TBC1D7	13424834	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	3.062000	0.49971	1.528000	0.49103	0.650000	0.86243	CGA		0.428	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		47	899	0	0	0	1	0	47	899					T	13316855	C	T	13316855	3	4	79	1	0	0	0	0	1	0	0	0	15676	884	31	1	430	1	TBC1D7	6	13316855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110749	13316855	157798212	7027	17344											
GFOD1	54438	broad.mit.edu	37	chr6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgcccatcccacgtgCgccggtcgtcctggtcctgg	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	324						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(970-972)cGc>cAc		glucose-fructose oxidoreductase domain containing 1							44	44	44					6																	13365177		2203	4299	6502	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365177C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.971G>A	6.37:g.13365177C>T	ENSP00000368589:p.Arg324His					GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	p.R324H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1635	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	324					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.971G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427283	0.96131	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.48836	1.41;0.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.40739	-0.9547	10	0.23891	T	0.37	-11.6292	18.5979	0.91235	0.0:1.0:0.0:0.0	.	324	Q9NXC2	GFOD1_HUMAN	H	324;221	ENSP00000368589:R324H;ENSP00000368586:R221H	ENSP00000368586:R221H	R	-	2	0	GFOD1	13473156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	CGC		0.672	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		81	279	0	0	0	1	0	81	279					T	13365177	C	T	13365177	3	4	79	1	0	0	0	0	1	0	0	0	6372	768	27	1	205	1	GFOD1	6	13365177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48322	13365177	157749890	7028	17345											
JARID2	3720	broad.mit.edu	37	chr6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctaagggattaggaccaGcatcagaacagtcagagaat	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	74					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATTAGGACCAGCATCAGAACA	0.463																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(220-222)Gca>Tca		jumonji, AT rich interactive domain 2							214	178	190					6																	15410493		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15410493G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.220G>T	6.37:g.15410493G>T	ENSP00000341280:p.Ala74Ser					JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.A36S	p.A74S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			3	464	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	74					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.220G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205312	0.58234	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.51574	0.7;1.41	5.48	5.48	0.80851	.	0.272597	0.36482	N	0.002569	T	0.12561	0.0305	N	0.02539	-0.55	0.80722	D	1	P;B	0.35872	0.525;0.001	B;B	0.35182	0.197;0.003	T	0.15780	-1.0425	10	0.15499	T	0.54	-6.656	17.5186	0.87781	0.0:0.0:1.0:0.0	.	36;74	F5H590;Q92833	.;JARD2_HUMAN	S	74;36	ENSP00000341280:A74S;ENSP00000444623:A36S	ENSP00000341280:A74S	A	+	1	0	JARID2	15518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	2.579000	0.87056	0.655000	0.94253	GCA		0.463	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		14	478	1	0	1.5842e-08	1	1.65642e-08	14	478					T	15410493	G	T	15410493	3	4	79	1	0	0	0	0	1	0	0	0	7975	971	34	3	230	3	JARID2	6	15410493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045316	15410493	155704574	7029	17346											
JARID2	3720	broad.mit.edu	37	chr6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcgctgcccaacaGcatggtgtattttggaagct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	172					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S172I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCCCAACAGCATGGTGTAT	0.473																																						ENST00000341776.2																			1	Substitution - Missense(1)	p.S172I(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(514-516)aGc>aTc		jumonji, AT rich interactive domain 2							109	95	100					6																	15468794		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15468794G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.515G>T	6.37:g.15468794G>T	ENSP00000341280:p.Ser172Ile					JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S134I	p.S172I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			5	759	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	172					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.515G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712770	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000541660	T;T	0.36157	1.27;1.27	4.94	1.69	0.24217	.	0.209292	0.47852	D	0.000207	T	0.13157	0.0319	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49559	0.925;0.694;0.694	P;B;B	0.44990	0.466;0.368;0.189	T	0.03268	-1.1054	10	0.66056	D	0.02	-4.0147	5.499	0.16819	0.6353:0.0:0.3647:0.0	.	134;36;172	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	36;172;134	ENSP00000341280:S172I;ENSP00000444623:S134I	ENSP00000341280:S172I	S	+	2	0	JARID2	15576773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	0.504000	0.28082	0.650000	0.86243	AGC		0.473	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		40	256	1	0	1.32136e-16	1	1.45297e-16	40	256					T	15468794	G	T	15468794	3	4	79	1	0	0	0	0	1	0	0	0	7975	971	34	3	533	3	JARID2	6	15468794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58301	15468794	155646273	7030	17347											
JARID2	3720	broad.mit.edu	37	chr6	15497082	15497082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggactcgggcaaggcCgagaagggcggcggcaaggc	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGCAAGGCCGAGAAGGGCG	0.647																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1624-1626)gcC>gcT		jumonji, AT rich interactive domain 2							24	27	26					6																	15497082		2202	4298	6500	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497082C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1626C>T	6.37:g.15497082C>T						JARID2_ENST00000397311.3_Silent_p.A370A|JARID2_ENST00000541660.1_Silent_p.A504A	p.A542A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1870	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	542					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1626C>T	CCDS4533.1																																																																																				0.647	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		27	143	0	0	0	1	0	27	143					T	15497082	C	T	15497082	2	4	79	1	0	0	0	0	0	0	0	1	7975	639	23	1		1	JARID2	6	15497082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28288	15497082	155617985	7031	17348											
JARID2	3720	broad.mit.edu	37	chr6	15507618	15507618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccaataacacagggtCcatcctgcgtcacctcggtg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15507618C>T	ENST00000341776.2	+	11	2946	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	JARID2_ENST00000541660.1_Missense_Mutation_p.S863F|JARID2_ENST00000397311.3_Missense_Mutation_p.S729F|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	901	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACACAGGGTCCATCCTGCGT	0.592																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2701-2703)tCc>tTc		jumonji, AT rich interactive domain 2							159	132	142					6																	15507618		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15507618C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2702C>T	6.37:g.15507618C>T	ENSP00000341280:p.Ser901Phe					JARID2_ENST00000397311.3_Missense_Mutation_p.S729F|JARID2_ENST00000541660.1_Missense_Mutation_p.S863F|JARID2_ENST00000474854.1_3'UTR	p.S901F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			11	2946	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	901			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2702C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179542	0.94846	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.51574	0.7;0.7;0.7	5.36	5.36	0.76844	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.050416	0.85682	D	0.000000	T	0.69993	0.3173	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.76041	-0.3104	10	0.87932	D	0	-14.7525	19.0669	0.93114	0.0:1.0:0.0:0.0	.	863;901	F5H590;Q92833	.;JARD2_HUMAN	F	901;729;863	ENSP00000341280:S901F;ENSP00000380478:S729F;ENSP00000444623:S863F	ENSP00000341280:S901F	S	+	2	0	JARID2	15615597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.508000	0.84585	0.585000	0.79938	TCC		0.592	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		7	408	0	0	0	1	0	7	408					T	15507618	C	T	15507618	3	4	79	1	0	0	0	0	1	0	0	0	7975	855	30	2	2744	2	JARID2	6	15507618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	15507618	155607449	7032	17349											
MYLIP	29116	broad.mit.edu	37	chr6	16141919	16141919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcttgtgttccccagaGcaggcagtggaactcagtgc	11	13	2	1	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		19053	0.0		0.003	False		,,,				2504	0.0					ENST00000356840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(340-342)gaG>gaA		myosin regulatory light chain interacting protein		G		0,4406		0,0,2203	87	82	84		342	4.5	1	6	dbSNP_134	84	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	MYLIP	NM_013262.3		0,7,6496	AA,AG,GG		0.0814,0.0,0.0538		114/446	16141919	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16141919G>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.342G>A	6.37:g.16141919G>A						MYLIP_ENST00000349606.4_5'UTR	p.E114E	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		3	540	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	114			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.342G>A	CCDS4536.1																																																																																				0.532	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		51	254	0	0	0	1	0	51	254					A	16141919	G	A	16141919	2	1	79	1	0	0	0	0	0	0	0	1	10096	962	34	2		2	MYLIP	6	16141919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634301	16141919	154973148	7033	17350											
GMPR	2766	broad.mit.edu	37	chr6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattcgtgaaacttgtcCgtgccaaatttcctgaacac	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	146					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(436-438)Cgt>Tgt		guanosine monophosphate reductase							179	167	171					6																	16254937		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254937C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.436C>T	6.37:g.16254937C>T	ENSP00000259727:p.Arg146Cys						p.R146C	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	550	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	146					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.436C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664263	0.88251	.	.	ENSG00000137198	ENST00000259727	T	0.80824	-1.42	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.047756	0.85682	D	0.000000	D	0.94238	0.8150	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96190	0.9137	10	0.87932	D	0	-2.5434	19.7405	0.96228	0.0:1.0:0.0:0.0	.	146	P36959	GMPR1_HUMAN	C	146	ENSP00000259727:R146C	ENSP00000259727:R146C	R	+	1	0	GMPR	16362916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.655000	0.90218	0.655000	0.94253	CGT		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			108	509	0	0	0	1	0	108	509					T	16254937	C	T	16254937	3	4	79	1	0	0	0	0	1	0	0	0	6525	652	23	1	450	1	GMPR	6	16254937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113018	16254937	154860130	7034	17351											
ATXN1	6310	broad.mit.edu	37	chr6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcaatcctctctacgGtgctggagtcgatcttcagg	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	614	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTCTCTACGGTGCTGGAGTC	0.552																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1840-1842)aCc>aTc		ataxin 1							88	88	88					6																	16326701		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16326701G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1841C>T	6.37:g.16326701G>A	ENSP00000244769:p.Thr614Ile					ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2777	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	614			AXH.|Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1841C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889332	0.72524	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.048732	0.85682	D	0.000000	D	0.86723	0.6001	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88471	0.3062	10	0.87932	D	0	-17.0797	17.2893	0.87150	0.0:0.0:1.0:0.0	.	614	P54253	ATX1_HUMAN	I	614	ENSP00000244769:T614I;ENSP00000416360:T614I	ENSP00000244769:T614I	T	-	2	0	ATXN1	16434680	1.000000	0.71417	0.931000	0.37212	0.741000	0.42261	9.125000	0.94402	2.307000	0.77673	0.561000	0.74099	ACC		0.552	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		97	429	0	0	0	1	0	97	429					A	16326701	G	A	16326701	3	1	79	1	0	0	0	0	1	0	0	0	1210	1261	44	2	614	2	ATXN1	6	16326701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71764	16326701	154788366	7035	17352											
CAP2	10486	broad.mit.edu	37	chr6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggtgtggcaccctccGtggaagcctttgacaagctg	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	46					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGCACCCTCCGTGGAAGCCTT	0.527																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(136-138)Gtg>Atg		CAP, adenylate cyclase-associated protein, 2 (yeast)							109	98	102					6																	17426835		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17426835G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.136G>A	6.37:g.17426835G>A	ENSP00000229922:p.Val46Met					CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M	p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		3	668	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	46					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.136G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093368	0.76756	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.37915	1.17;1.17;1.17;2.42;1.17	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.249150	0.41396	D	0.000897	T	0.56746	0.2006	M	0.84773	2.715	0.29975	N	0.81823	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.996;0.941	D;D;D;P;B	0.87578	0.998;0.997;0.998;0.826;0.257	T	0.59257	-0.7488	10	0.62326	D	0.03	-18.492	16.447	0.83937	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	M	46	ENSP00000229922:V46M;ENSP00000417705:V46M;ENSP00000368275:V46M;ENSP00000417208:V46M;ENSP00000418604:V46M	ENSP00000229922:V46M	V	+	1	0	CAP2	17534814	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.323000	0.43823	2.626000	0.88956	0.591000	0.81541	GTG		0.527	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			70	335	0	0	0	1	0	70	335					A	17426835	G	A	17426835	3	1	79	1	0	0	0	0	1	0	0	0	2627	1145	40	1	142	1	CAP2	6	17426835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1100134	17426835	153688232	7036	17353											
NUP153	9972	broad.mit.edu	37	chr6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgttgttcaagaaaCtaaaaactggctttgctgca	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1191					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAAGAAACTAAAAACTGG	0.413																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3571-3573)aGt>aCt		nucleoporin 153kDa							43	45	45					6																	17626368		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17626368C>G	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3572G>C	6.37:g.17626368C>G	ENSP00000262077:p.Ser1191Thr					NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	p.S1191T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		19	3571	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1191					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3572G>C	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021807	0.35701	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.14516	2.55;2.5	5.39	-1.33	0.09172	.	0.331489	0.25753	N	0.028540	T	0.07007	0.0178	M	0.72894	2.215	0.39995	D	0.975091	P;B;P	0.42078	0.607;0.397;0.77	B;B;B	0.39590	0.304;0.146;0.219	T	0.17623	-1.0363	10	0.38643	T	0.18	-2.401	10.9874	0.47530	0.0:0.558:0.0:0.442	.	1222;1171;1191	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	1191;1171;1222	ENSP00000262077:S1191T;ENSP00000444029:S1222T	ENSP00000262077:S1191T	S	-	2	0	NUP153	17734347	0.979000	0.34478	0.957000	0.39632	0.861000	0.49209	0.010000	0.13242	-0.197000	0.10350	-0.244000	0.11960	AGT		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			41	172	0	0	0	1	0	41	172					G	17626368	C	G	17626368	3	3	79	1	0	0	0	0	1	0	0	0	10797	565	20	5	871	5	NUP153	6	17626368	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199533	17626368	153488699	7037	17354											
NUP153	9972	broad.mit.edu	37	chr6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagataaaccattggCtgcaggcaaactgaaatttg	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	435					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAACCATTGGCTGCAGGCAAA	0.398																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1303-1305)Gcc>Tcc		nucleoporin 153kDa							112	111	111					6																	17661976		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17661976C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1303G>T	6.37:g.17661976C>A	ENSP00000262077:p.Ala435Ser					NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		11	1302	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	435					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1303G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867447	0.32977	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.62	4.74	0.60224	Nucleoporin, Nup153-like (1);	0.149996	0.31113	N	0.008233	T	0.06690	0.0171	N	0.05414	-0.055	0.41898	D	0.990406	B;B;B	0.21688	0.047;0.059;0.046	B;B;B	0.29353	0.025;0.101;0.031	T	0.22556	-1.0213	10	0.16420	T	0.52	-0.5263	8.1593	0.31190	0.1977:0.7191:0.0:0.0832	.	435;457;435	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	435;457;435	ENSP00000262077:A435S;ENSP00000444029:A435S	ENSP00000262077:A435S	A	-	1	0	NUP153	17769955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.060000	0.41394	2.809000	0.96659	0.655000	0.94253	GCC		0.398	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			116	517	1	0	7.61515e-48	1	9.38505e-48	116	517					A	17661976	C	A	17661976	3	1	79	1	0	0	0	0	1	0	0	0	10797	797	28	3	3172	3	NUP153	6	17661976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35608	17661976	153453091	7038	17355											
NUP153	9972	broad.mit.edu	37	chr6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatcagtaatattagagctCtcctcatcggcatataccag	6	12	3	1	rs371263282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	92					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTAGAGCTCTCCTCATCGG	0.413																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(274-276)gaG>gaT		nucleoporin 153kDa							121	113	115					6																	17688685		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688685C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.276G>T	6.37:g.17688685C>A	ENSP00000262077:p.Glu92Asp					NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	275	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	92					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.276G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098993	0.08681	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	2.85;2.89	5.25	0.691	0.18045	.	0.000000	0.50627	D	0.000115	T	0.01695	0.0054	L	0.40543	1.245	0.25779	N	0.984748	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.46442	-0.9191	10	0.16420	T	0.52	-7.7884	0.6079	0.00756	0.2222:0.2519:0.3015:0.2244	.	92;114;92	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	92;114;92	ENSP00000262077:E92D;ENSP00000444029:E92D	ENSP00000262077:E92D	E	-	3	2	NUP153	17796664	0.957000	0.32711	0.554000	0.28268	0.009000	0.06853	0.230000	0.17852	0.188000	0.20168	-0.156000	0.13503	GAG		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			34	400	1	0	6.53348e-20	1	7.30415e-20	34	400					A	17688685	C	A	17688685	3	1	79	1	0	0	0	0	1	0	0	0	10797	912	32	3	4235	3	NUP153	6	17688685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26709	17688685	153426382	7039	17356											
KIF13A	63971	broad.mit.edu	37	chr6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttacattatgaacaTttggtgtactgaggctcctc	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000259711.6	-	34	4265	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I	KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378814.5_Missense_Mutation_p.N1374I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1387					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTATGAACATTTGGTGTACT	0.478																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4120-4122)aAt>aTt		kinesin family member 13A							70	75	73					6																	17777518		1963	4157	6120	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777518T>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4160A>T	6.37:g.17777518T>A	ENSP00000259711:p.Asn1387Ile					KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000259711.6_Missense_Mutation_p.N1387I	p.N1374I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		33	4120	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1387					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4121A>T	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.859464|5.859464	0.97036|0.97036	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.74315	.|-0.79;1.52;-0.83;-0.79;-0.79;-0.79	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.998;1.0	.|D;D;D;D	.|0.91635	.|0.934;0.999;0.969;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	16.0773|16.0773	0.80976|0.80976	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1374;1387;1387;1374	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	781|1374;391;1387;1387;1374;1387	.|ENSP00000368091:N1374I;ENSP00000425616:N391I;ENSP00000259711:N1387I;ENSP00000368103:N1387I;ENSP00000368120:N1374I;ENSP00000368093:N1387I	.|ENSP00000259711:N1387I	M|N	-|-	1|2	0|0	KIF13A|KIF13A	17885497|17885497	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.992000|0.992000	0.81027|0.81027	7.655000|7.655000	0.83696|0.83696	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	ATG|AAT		0.478	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	64	0	0	0	1	0	6	64					A	17777518	T	A	17777518	3	1	79	1	0	0	0	0	1	0	0	0	8304	1493	52	5	1306	5	KIF13A	6	17777518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88833	17777518	153337549	7040	17357											
KIF13A	63971	broad.mit.edu	37	chr6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcatccaggtattctcgtCgtttaatgagtgcatctgac	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000259711.6	-	27	3419	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1092Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1105					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTATTCTCGTCGTTTAATGAG	0.393																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3274-3276)cGa>cAa		kinesin family member 13A							308	283	291					6																	17788054		1891	4124	6015	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17788054C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3314G>A	6.37:g.17788054C>T	ENSP00000259711:p.Arg1105Gln					KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1105Q	p.R1092Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3274	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1105					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3275G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779455|5.779455	0.96929|0.96929	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.79554	.|-1.27;0.99;-1.28;-1.25;-1.27;-1.25	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89455|0.89455	0.6720|0.6720	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.987;0.998;0.999;0.998	D|D	0.89481|0.89481	0.3750|0.3750	5|10	.|0.87932	.|D	.|0	.|.	20.2723|20.2723	0.98479|0.98479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1092;1105;1105;1092	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	N|Q	499|1092;109;1105;1105;1092;1105;103	.|ENSP00000368091:R1092Q;ENSP00000425616:R109Q;ENSP00000259711:R1105Q;ENSP00000368103:R1105Q;ENSP00000368120:R1092Q;ENSP00000368093:R1105Q	.|ENSP00000259711:R1105Q	D|R	-|-	1|2	0|0	KIF13A|KIF13A	17896033|17896033	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.966000|0.966000	0.64601|0.64601	7.776000|7.776000	0.85560|0.85560	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.393	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			104	509	0	0	0	1	0	104	509					T	17788054	C	T	17788054	3	4	79	1	0	0	0	0	1	0	0	0	8304	884	31	1	2180	1	KIF13A	6	17788054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	17788054	153327013	7041	17358											
KIF13A	63971	broad.mit.edu	37	chr6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgataacttccatctgtgCaaattcatagttatagtctg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000259711.6	-	16	1852	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378814.5_Missense_Mutation_p.A583T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	583					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCATCTGTGCAAATTCATAG	0.468																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1747-1749)Gca>Aca		kinesin family member 13A							106	107	107					6																	17826038		1922	4132	6054	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826038C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1747G>A	6.37:g.17826038C>T	ENSP00000259711:p.Ala583Thr					KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000259711.6_Missense_Mutation_p.A583T	p.A583T	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		16	1746	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	583					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1747G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610702	0.96637	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.998	D;D;D;D;D	0.80764	0.994;0.931;0.982;0.988;0.937	D	0.89111	0.3496	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	554;583;583;583;583	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	T	583	ENSP00000368091:A583T;ENSP00000259711:A583T;ENSP00000368103:A583T;ENSP00000368120:A583T;ENSP00000368093:A583T	ENSP00000259711:A583T	A	-	1	0	KIF13A	17934017	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.432000	0.80349	2.894000	0.99253	0.655000	0.94253	GCA		0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			88	385	0	0	0	1	0	88	385					T	17826038	C	T	17826038	3	4	79	1	0	0	0	0	1	0	0	0	8304	710	25	2	3791	2	KIF13A	6	17826038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37984	17826038	153289029	7042	17359											
KIF13A	63971	broad.mit.edu	37	chr6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacacagcatgggagcGgctgctttcttcgttcatgt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000259711.6	-	8	763	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378814.5_Missense_Mutation_p.R220C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATGGGAGCGGCTGCTTTCT	0.468																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(658-660)Cgc>Tgc		kinesin family member 13A							110	112	111					6																	17850613		1952	4131	6083	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17850613G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.658C>T	6.37:g.17850613G>A	ENSP00000259711:p.Arg220Cys					KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220C	p.R220C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		8	657	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	220			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.658C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263361	0.95399	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.99650	4.68	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	0.98633	1.0672	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	220	ENSP00000368091:R220C;ENSP00000259711:R220C;ENSP00000368103:R220C;ENSP00000368120:R220C;ENSP00000368093:R220C	ENSP00000259711:R220C	R	-	1	0	KIF13A	17958592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.724000	0.93272	0.563000	0.77884	CGC		0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			40	194	0	0	0	1	0	40	194					A	17850613	G	A	17850613	3	1	79	1	0	0	0	0	1	0	0	0	8304	1116	39	1	4912	1	KIF13A	6	17850613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24575	17850613	153264454	7043	17360											
NHLRC1	378884	broad.mit.edu	37	chr6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatccacagggtacctaAtgtcttgggcagcgtccccc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	174					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGTACCTAATGTCTTGGGC	0.552																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(520-522)aTt>aGt		NHL repeat containing 1							105	111	109					6																	18122317		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122317A>C	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.521T>G	6.37:g.18122317A>C	ENSP00000345464:p.Ile174Ser						p.I174S	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	534	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	174					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.521T>G	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977934	0.34942	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	3.8	0.43715	Six-bladed beta-propeller, TolB-like (1);	0.376634	0.25402	N	0.030924	T	0.76147	0.3947	L	0.43152	1.355	0.34863	D	0.742812	B	0.34015	0.435	B	0.32624	0.149	T	0.74290	-0.3713	10	0.72032	D	0.01	-2.1043	10.6441	0.45610	0.8561:0.0:0.0:0.1438	.	174	Q6VVB1	NHLC1_HUMAN	S	174	ENSP00000345464:I174S	ENSP00000345464:I174S	I	-	2	0	NHLRC1	18230296	0.997000	0.39634	0.862000	0.33874	0.540000	0.34992	8.407000	0.90218	0.704000	0.31869	0.533000	0.62120	ATT		0.552	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			75	317	0	0	0	1	0	75	317					C	18122317	A	C	18122317	3	2	79	1	0	0	0	0	1	0	0	0	10447	101	4	4	670	4	NHLRC1	6	18122317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271704	18122317	152992750	7044	17361											
KDM1B	221656	broad.mit.edu	37	chr6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacactggagttctcagcGtgggagccgaccagtatctt	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000297792.5	+	9	886	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	369					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1105-1107)Gtg>Atg		lysine (K)-specific demethylase 1B							93	78	83					6																	18197423		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18197423G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.709G>A	6.37:g.18197423G>A	ENSP00000297792:p.Val237Met					KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.V237M	p.V369M			Q8NB78	KDM1B_HUMAN			11	1346	+			369			SWIRM.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1105G>A	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609532	0.87258	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.33438	1.43;1.41;1.41	5.97	5.97	0.96955	Homeodomain-like (1);SWIRM (1);	0.433457	0.23626	N	0.046194	T	0.41994	0.1183	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66602	0.469;0.945	T	0.11717	-1.0576	10	0.54805	T	0.06	-19.5281	20.4135	0.99023	0.0:0.0:1.0:0.0	.	369;237	Q8NB78;A2A2C6	KDM1B_HUMAN;.	M	369;237;237;369	ENSP00000373522:V369M;ENSP00000380419:V237M;ENSP00000297792:V237M	ENSP00000297792:V237M	V	+	1	0	KDM1B	18305402	1.000000	0.71417	0.283000	0.24790	0.995000	0.86356	9.395000	0.97266	2.835000	0.97688	0.591000	0.81541	GTG		0.478	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		38	195	0	0	0	1	0	38	195					A	18197423	G	A	18197423	3	1	79	1	0	0	0	0	1	0	0	0	8153	1145	40	1	735	1	KDM1B	6	18197423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75106	18197423	152917644	7045	17362											
KDM1B	221656	broad.mit.edu	37	chr6	18208416	18208416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttaccactacagatggCacagggtattctgcacaaaa	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000297792.5	+	13	1326	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000388870.2_Silent_p.G616G			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	615					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1846-1848)ggC>ggT		lysine (K)-specific demethylase 1B							169	160	163					6																	18208416		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18208416C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1149C>T	6.37:g.18208416C>T						KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Silent_p.G383G	p.G616G			Q8NB78	KDM1B_HUMAN			17	2089	+			615					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1848C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109624	0.20714	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.16	0.175	0.15045	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-3.398	1.9357	0.03336	0.1705:0.2963:0.328:0.2052	.	.	.	.	V	433	.	.	A	+	2	0	KDM1B	18316395	0.002000	0.14202	0.050000	0.19076	0.510000	0.34073	-0.669000	0.05262	0.065000	0.16485	0.655000	0.94253	GCA		0.463	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		68	343	0	0	0	1	0	68	343					T	18208416	C	T	18208416	2	4	79	1	0	0	0	0	0	0	0	1	8153	697	25	2		2	KDM1B	6	18208416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10993	18208416	152906651	7046	17363											
KDM1B	221656	broad.mit.edu	37	chr6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagaagcacagcgtgCtgatgtctgtgattgccggg	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000297792.5	+	16	1606	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	709					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2128-2130)Ctg>Atg		lysine (K)-specific demethylase 1B							78	74	75					6																	18215253		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215253C>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1429C>A	6.37:g.18215253C>A	ENSP00000297792:p.Leu477Met					KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000297792.5_Missense_Mutation_p.L477M	p.L710M			Q8NB78	KDM1B_HUMAN			20	2369	+			709					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.2128C>A	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189827|3.189827	0.57909|0.57909	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;D;D	.|0.95788	.|-3.81;-3.81;-3.81	5.99|5.99	-7.43|-7.43	0.01383|0.01383	.|Amine oxidase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.97586	.|0.9209	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.991	.|D	.|0.97776	.|1.0229	.|10	.|0.72032	.|D	.|0.01	-15.261|-15.261	18.1844|18.1844	0.89788|0.89788	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	.|526;709;477	.|A2A2C4;Q8NB78;A2A2C6	.|.;KDM1B_HUMAN;.	X|M	526|710;478;477;707	.|ENSP00000373522:L710M;ENSP00000380419:L478M;ENSP00000297792:L477M	.|ENSP00000297792:L477M	C|L	+|+	3|1	2|2	KDM1B|KDM1B	18323232|18323232	0.968000|0.968000	0.33430|0.33430	0.539000|0.539000	0.28077|0.28077	0.688000|0.688000	0.40055|0.40055	0.250000|0.250000	0.18235|0.18235	-1.606000|-1.606000	0.01591|0.01591	-0.806000|-0.806000	0.03193|0.03193	TGC|CTG		0.527	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		53	255	1	0	6.3237e-29	1	7.37716e-29	53	255					A	18215253	C	A	18215253	3	1	79	1	0	0	0	0	1	0	0	0	8153	796	28	3	1483	3	KDM1B	6	18215253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	18215253	152899814	7047	17364											
KDM1B	221656	broad.mit.edu	37	chr6	18215342	18215342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcatggccacgctccgGgagctgttcaaggagcaggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000297792.5	+	16	1695	c.1518G>T	c.(1516-1518)cgG>cgT	p.R506R	KDM1B_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	738					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2215-2217)cgG>cgT		lysine (K)-specific demethylase 1B							52	50	51					6																	18215342		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215342G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1518G>T	6.37:g.18215342G>T						KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000297792.5_Silent_p.R506R	p.R739R			Q8NB78	KDM1B_HUMAN			20	2458	+			738					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.2217G>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234472	0.22626	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.99	3.09	0.35607	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	-16.0584	3.8774	0.09062	0.1203:0.4065:0.3342:0.139	.	.	.	.	V	556	.	.	G	+	2	0	KDM1B	18323321	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.073000	0.30691	0.352000	0.24053	0.650000	0.86243	GGG		0.607	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		29	169	1	0	2.61193e-14	1	2.83483e-14	29	169					T	18215342	G	T	18215342	2	4	79	1	0	0	0	0	0	0	0	1	8153	1219	43	3		3	KDM1B	6	18215342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	18215342	152899725	7048	17365											
RNF144B	255488	broad.mit.edu	37	chr6	18439941	18439941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggtacctgtggaccaGtttcaactttatcagaggtt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	99					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378																																						ENST00000259939.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11						c.(295-297)caG>caA		ring finger protein 144B							173	157	162					6																	18439941		2203	4300	6503	SO:0001819	synonymous_variant	255488				apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18439941G>A	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"RING-type (C3HC4) zinc fingers"	21578	protein-coding gene	gene with protein product			"IBR domain containing 2"	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.297G>A	6.37:g.18439941G>A						RNF144B_ENST00000429054.2_Intron	p.Q99Q	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		4	614	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	99					B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Silent	SNP	ENST00000259939.3	37	c.297G>A	CCDS34345.1																																																																																				0.378	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581		42	216	0	0	0	1	0	42	216					A	18439941	G	A	18439941	2	1	79	1	0	0	0	0	0	0	0	1	13496	1020	36	2		2	RNF144B	6	18439941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224599	18439941	152675126	7049	17366											
MBOAT1	154141	broad.mit.edu	37	chr6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtttcattggcagaaAtagtattatcaggagactta	10	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000324607.7	-	13	1572	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	470					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(961-963)Ttt>Att		membrane bound O-acyltransferase domain containing 1							105	105	105					6																	20102597		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20102597A>T	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1408T>A	6.37:g.20102597A>T	ENSP00000324944:p.Phe470Ile					MBOAT1_ENST00000324607.7_Missense_Mutation_p.F470I	p.F321I			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		12	1556	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		470					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.961T>A	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263539	0.05754	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.03	1.06	0.20224	.	0.592069	0.18066	N	0.152795	T	0.02571	0.0078	N	0.20685	0.6	0.29436	N	0.859493	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.43893	-0.9363	10	0.11182	T	0.66	-8.0088	3.0293	0.06102	0.5593:0.0:0.1877:0.253	.	321;470	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	321;470	ENSP00000441568:F321I;ENSP00000324944:F470I	ENSP00000324944:F470I	F	-	1	0	MBOAT1	20210576	0.003000	0.15002	0.271000	0.24616	0.953000	0.61014	-0.053000	0.11846	0.466000	0.27193	0.533000	0.62120	TTT		0.353	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			83	346	0	0	0	1	0	83	346					T	20102597	A	T	20102597	3	4	79	1	0	0	0	0	1	0	0	0	9397	101	4	5	83	5	MBOAT1	6	20102597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1662656	20102597	151012470	7050	17367											
E2F3	1871	broad.mit.edu	37	chr6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagtacctggtgaccGccgggggtggggagggggcg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	16					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(46-48)Gcc>Acc		E2F transcription factor 3							12	19	17					6																	20402509		2139	4188	6327	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402509G>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.46G>A	6.37:g.20402509G>A	ENSP00000262904:p.Ala16Thr						p.A16T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	112	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		16					Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.46G>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005005	0.74932	.	.	ENSG00000112242	ENST00000346618	T	0.09163	3.01	4.34	4.34	0.51931	.	0.113819	0.38058	N	0.001839	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.42965	-0.9420	10	0.56958	D	0.05	.	15.8346	0.78789	0.0:0.0:1.0:0.0	.	16	O00716	E2F3_HUMAN	T	16	ENSP00000262904:A16T	ENSP00000262904:A16T	A	+	1	0	E2F3	20510488	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.241000	0.73720	0.555000	0.69702	GCC		0.607	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			17	147	0	0	0	1	0	17	147					A	20402509	G	A	20402509	3	1	79	1	0	0	0	0	1	0	0	0	4884	1087	38	1	48	1	E2F3	6	20402509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299912	20402509	150712558	7051	17368											
CDKAL1	54901	broad.mit.edu	37	chr6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgacatcgaagatatcGtgtctcaggaagattcaaaa	10	6	2	3	rs560146971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000378610.1	+	1	59	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000378624.4_5'UTR|CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	17					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGAAGATATCGTGTCTCAGGA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0					ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(49-51)Gtg>Atg		CDK5 regulatory subunit associated protein 1-like 1							126	120	122					6																	20546630		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20546630G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.49G>A	6.37:g.20546630G>A	ENSP00000367873:p.Val17Met					CDKAL1_ENST00000378610.1_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR	p.V17M	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		3	216	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		17					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.49G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137874	0.56936	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.47528	0.84;0.84	5.5	4.62	0.57501	.	0.064498	0.64402	D	0.000009	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P;D	0.54397	0.936;0.966	P;P	0.52672	0.528;0.706	T	0.55412	-0.8145	10	0.66056	D	0.02	.	13.5669	0.61824	0.0751:0.0:0.9249:0.0	.	17;17	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	M	17	ENSP00000274695:V17M;ENSP00000367873:V17M	ENSP00000274695:V17M	V	+	1	0	CDKAL1	20654609	1.000000	0.71417	0.946000	0.38457	0.293000	0.27360	3.994000	0.56994	1.529000	0.49120	0.655000	0.94253	GTG		0.368	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		82	321	0	0	0	1	0	82	321					A	20546630	G	A	20546630	3	1	79	1	0	0	0	0	1	0	0	0	3161	1145	40	1	51	1	CDKAL1	6	20546630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144121	20546630	150568437	7052	17369											
CDKAL1	54901	broad.mit.edu	37	chr6	20781393	20781393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcactctgtgagactgCtgggtcagaaaaaggataat	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000378610.1	+	6	545	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CDKAL1_ENST00000378624.4_Silent_p.L109L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.L179L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGTGAGACTGCTGGGTCAGAA	0.398																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(535-537)Ctg>Ttg		CDK5 regulatory subunit associated protein 1-like 1							156	152	153					6																	20781393		2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20781393C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.535C>T	6.37:g.20781393C>T						CDKAL1_ENST00000378610.1_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L	p.L179L	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		8	702	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		179					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.535C>T	CCDS4546.1																																																																																				0.398	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		82	390	0	0	0	1	0	82	390					T	20781393	C	T	20781393	2	4	79	1	0	0	0	0	0	0	0	1	3161	796	28	2		2	CDKAL1	6	20781393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234763	20781393	150333674	7053	17370											
PRL	5617	broad.mit.edu	37	chr6	22290434	22290434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctccatgccctctagaAgccgtttggtttgctcctca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290434A>C	ENST00000306482.1	-	4	979	c.461T>G	c.(460-462)cTt>cGt	p.L154R	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	154					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GCCCTCTAGAAGCCGTTTGGT	0.483																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(460-462)cTt>cGt		prolactin							96	91	92					6																	22290434		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290434A>C	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.461T>G	6.37:g.22290434A>C	ENSP00000302150:p.Leu154Arg					RP3-404K8.2_ENST00000561912.1_RNA	p.L154R	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	979	-	Ovarian(93;0.163)		154					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.461T>G	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446040	0.43429	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.95821	-3.82	5.76	4.59	0.56863	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	H	0.96662	3.86	0.80722	D	1	D;P	0.58970	0.984;0.882	D;P	0.72625	0.978;0.775	D	0.98953	1.0795	10	0.87932	D	0	-40.8675	13.3246	0.60452	0.868:0.132:0.0:0.0	.	154;155	P01236;Q5I0G2	PRL_HUMAN;.	R	154;123	ENSP00000302150:L154R	ENSP00000302150:L154R	L	-	2	0	PRL	22398413	1.000000	0.71417	0.041000	0.18516	0.163000	0.22366	4.437000	0.59955	1.089000	0.41292	0.533000	0.62120	CTT		0.483	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		7	319	0	0	0	1	0	7	319					C	22290434	A	C	22290434	3	2	79	1	0	0	0	0	1	0	0	0	12575	72	3	4	230	4	PRL	6	22290434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1509041	22290434	148824633	7054	17371											
PRL	5617	broad.mit.edu	37	chr6	22290448	22290448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagaagccgtttggtttgCtcctcaatctctacagcttt	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	149					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(445-447)gaG>gaA		prolactin							101	95	97					6																	22290448		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290448C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.447G>A	6.37:g.22290448C>T						RP3-404K8.2_ENST00000561912.1_RNA	p.E149E	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	965	-	Ovarian(93;0.163)		149					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.447G>A	CCDS4548.1																																																																																				0.502	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		57	313	0	0	0	1	0	57	313					T	22290448	C	T	22290448	2	4	79	1	0	0	0	0	0	0	0	1	12575	796	28	2		2	PRL	6	22290448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	22290448	148824619	7055	17372											
DCDC2	51473	broad.mit.edu	37	chr6	24291177	24291177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccaaaaggccttctcatCgttgacttgtcaaaaagtaa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	229					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCATCGTTGACTTGT	0.413																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(685-687)acG>acA		doublecortin domain containing 2							117	109	112					6																	24291177		2203	4300	6503	SO:0001819	synonymous_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24291177C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.687G>A	6.37:g.24291177C>T							p.T229T	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			5	988	-		Ovarian(999;0.101)	229					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	c.687G>A	CCDS4550.1																																																																																				0.413	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		37	171	0	0	0	1	0	37	171					T	24291177	C	T	24291177	2	4	79	1	0	0	0	0	0	0	0	1	4296	871	31	1		1	DCDC2	6	24291177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2000729	24291177	146823890	7056	17373											
GPLD1	2822	broad.mit.edu	37	chr6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttccagcagcaatgaCgacttggttctgtaagggac	10	11	1	1	rs370617124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	816					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCAGCAATGACGACTTGGTTC	0.468																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(2446-2448)Gtc>Atc		glycosylphosphatidylinositol specific phospholipase D1							83	70	75					6																	24429337		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24429337C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2446G>A	6.37:g.24429337C>T	ENSP00000230036:p.Val816Ile						p.V816I	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			25	2556	-			816					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.2446G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850426	0.17034	.	.	ENSG00000112293	ENST00000230036	T	0.69040	-0.37	5.29	4.42	0.53409	.	0.086699	0.48767	N	0.000172	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.26708	0.157	B	0.15052	0.012	T	0.26744	-1.0094	10	0.08179	T	0.78	-25.2769	12.953	0.58411	0.0:0.9208:0.0:0.0792	.	816	P80108	PHLD_HUMAN	I	816	ENSP00000230036:V816I	ENSP00000230036:V816I	V	-	1	0	GPLD1	24537316	0.998000	0.40836	0.947000	0.38551	0.058000	0.15608	2.947000	0.49058	1.460000	0.47911	0.655000	0.94253	GTC		0.468	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		26	149	0	0	0	1	0	26	149					T	24429337	C	T	24429337	3	4	79	1	0	0	0	0	1	0	0	0	6643	536	19	1	80	1	GPLD1	6	24429337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138160	24429337	146685730	7057	17374											
ALDH5A1	7915	broad.mit.edu	37	chr6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtgtatacaatgttattCcctgttctcgaaagaatgcc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000357578.3	+	5	917	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	258					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CAATGTTATTCCCTGTTCTCG	0.403																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(772-774)Ccc>Tcc		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						143	130	134					6																	24515440		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515440C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.772C>T	6.37:g.24515440C>T	ENSP00000350191:p.Pro258Ser					ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	p.P258S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	917	+			258					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.772C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107257	0.56291	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.79065	-0.1956	10	0.72032	D	0.01	-12.4064	19.2129	0.93765	0.0:1.0:0.0:0.0	.	258;271	P51649;G5E949	SSDH_HUMAN;.	S	258;170;230;271	ENSP00000350191:P258S;ENSP00000438193:P170S;ENSP00000417687:P230S;ENSP00000314649:P271S	ENSP00000314649:P271S	P	+	1	0	ALDH5A1	24623419	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.635000	0.74295	2.778000	0.95560	0.591000	0.81541	CCC		0.403	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			87	470	0	0	0	1	0	87	470					T	24515440	C	T	24515440	3	4	79	1	0	0	0	0	1	0	0	0	502	855	30	2	833	2	ALDH5A1	6	24515440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86103	24515440	146599627	7058	17375											
KIAA0319	9856	broad.mit.edu	37	chr6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgttgccttgaagaatCtgtcaccttcagctgaaatg	9	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000378214.3	-	11	2331	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	603	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1780-1782)Gat>Tat		KIAA0319							141	118	126					6																	24572854		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24572854C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1807G>T	6.37:g.24572854C>A	ENSP00000367459:p.Asp603Tyr					KIAA0319_ENST00000378214.3_Missense_Mutation_p.D603Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y	p.D594Y	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			12	2422	-			603			PKD 3.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1780G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838829	0.71373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.075859	0.52532	D	0.000064	T	0.59128	0.2171	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78226	-0.2286	10	0.87932	D	0	-16.8604	16.9707	0.86298	0.0:1.0:0.0:0.0	.	603;594;603	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	603;594;558;603;603	ENSP00000439700:D603Y;ENSP00000442403:D594Y;ENSP00000401086:D558Y;ENSP00000367459:D603Y;ENSP00000437656:D603Y	ENSP00000367459:D603Y	D	-	1	0	KIAA0319	24680833	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	6.823000	0.75282	2.207000	0.71202	0.655000	0.94253	GAT		0.413	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		54	205	1	0	2.14255e-21	1	2.4122e-21	54	205					A	24572854	C	A	24572854	3	1	79	1	0	0	0	0	1	0	0	0	8198	913	32	3	1455	3	KIAA0319	6	24572854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57414	24572854	146542213	7059	17376											
TDP2	51567	broad.mit.edu	37	chr6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctcttctgctgctgCtctgaaaaatattcgatcaa	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000378198.4	-	7	1134	c.964G>A	c.(964-966)Gca>Aca	p.A322T	TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000341060.3_Missense_Mutation_p.A264T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	322					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403								Direct reversal of damage																														ENST00000341060.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(790-792)Gca>Aca	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							94	91	92					6																	24651141		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24651141C>T	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.964G>A	6.37:g.24651141C>T	ENSP00000367440:p.Ala322Thr					TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000378198.4_Missense_Mutation_p.A322T	p.A264T			O95551	TYDP2_HUMAN			6	1185	-			322					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.790G>A	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984956	0.35036	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.21734	1.99;1.99;1.99	5.46	1.1	0.20463	Endonuclease/exonuclease/phosphatase (2);	0.225345	0.46758	N	0.000261	T	0.03959	0.0111	L	0.33485	1.01	0.30381	N	0.781984	B	0.14805	0.011	B	0.17433	0.018	T	0.44034	-0.9354	10	0.15066	T	0.55	-24.3697	6.417	0.21721	0.093:0.6123:0.1402:0.1545	.	322	O95551	TYDP2_HUMAN	T	322;352;244;264	ENSP00000367440:A322T;ENSP00000437637:A352T;ENSP00000345345:A264T	ENSP00000345345:A264T	A	-	1	0	TDP2	24759120	0.997000	0.39634	0.997000	0.53966	0.980000	0.70556	1.004000	0.29822	0.222000	0.20900	-0.140000	0.14226	GCA		0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			55	211	0	0	0	1	0	55	211					T	24651141	C	T	24651141	3	4	79	1	0	0	0	0	1	0	0	0	15781	797	28	2	128	2	TDP2	6	24651141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78287	24651141	146463926	7060	17377											
C6orf62	81688	broad.mit.edu	37	chr6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taggattgttgacaacgattCcagtcttgtccttgcggctc	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	168						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GACAACGATTCCAGTCTTGTC	0.383																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(502-504)gGa>gTa		chromosome 6 open reading frame 62							204	181	189					6																	24709066		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24709066C>A	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.503G>T	6.37:g.24709066C>A	ENSP00000367359:p.Gly168Val					C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	p.G168V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			4	2670	-			168					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.503G>T	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493228	0.96339	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.50001	0.76;0.76;0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56823	-0.7915	10	0.87932	D	0	-7.5051	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q9GZU0	CF062_HUMAN	V	168;110;139	ENSP00000367359:G168V;ENSP00000446225:G110V;ENSP00000367342:G139V	ENSP00000367342:G139V	G	-	2	0	C6orf62	24817045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.941000	0.99782	0.655000	0.94253	GGA		0.383	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		18	595	1	0	7.21436e-19	1	8.02439e-19	18	595					A	24709066	C	A	24709066	3	1	79	1	0	0	0	0	1	0	0	0	2375	855	30	3	194	3	C6orf62	6	24709066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57925	24709066	146406001	7061	17378											
LRRC16A	55604	broad.mit.edu	37	chr6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccatggagccatctgagCgcctggctagtctccaggcg	12	14	3	1	rs199969829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(409-411)Cgc>Tgc		leucine rich repeat containing 16A							48	50	49					6																	25450163		1846	4086	5932	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450163C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	6.37:g.25450163C>T	ENSP00000331983:p.Arg137Cys					LRRC16A_ENST00000377969.3_5'UTR	p.R137C	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			6	777	+			137					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.409C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		26	127	0	0	0	1	0	26	127					T	25450163	C	T	25450163	3	4	79	1	0	0	0	0	1	0	0	0	9009	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	741097	25450163	145664904	7062	17379											
LRRC16A	55604	broad.mit.edu	37	chr6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaaaactgtcctctaaGgatctaaaactggtaagtaa	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	226					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCCTCTAAGGATCTAAAAC	0.363																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(676-678)aaG>aaT		leucine rich repeat containing 16A							159	150	152					6																	25466164		1853	4091	5944	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25466164G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.678G>T	6.37:g.25466164G>T	ENSP00000331983:p.Lys226Asn					LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	p.K226N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			9	1046	+			226					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.678G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232859	0.39498	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.89	5.02	0.67125	.	0.048959	0.85682	D	0.000000	T	0.34483	0.0899	L	0.50333	1.59	0.48087	D	0.999589	P;P;P;P	0.46987	0.868;0.469;0.888;0.589	B;B;P;B	0.47915	0.358;0.253;0.561;0.288	T	0.10894	-1.0610	10	0.22706	T	0.39	.	13.3814	0.60768	0.0724:0.0:0.9276:0.0	.	226;226;226;65	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	226;226;65	ENSP00000331983:K226N;ENSP00000367206:K65N	ENSP00000331983:K226N	K	+	3	2	LRRC16A	25574143	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	5.750000	0.68712	1.508000	0.48769	-0.141000	0.14075	AAG		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		90	388	1	0	6.31949e-53	1	7.86834e-53	90	388					T	25466164	G	T	25466164	3	4	79	1	0	0	0	0	1	0	0	0	9009	991	35	3	712	3	LRRC16A	6	25466164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	25466164	145648903	7063	17380											
LRRC16A	55604	broad.mit.edu	37	chr6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagtcactcagtgccaatCcattgaccgcctctaccctt	5	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(997-999)Cca>Tca		leucine rich repeat containing 16A							182	180	181					6																	25488745		1957	4160	6117	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25488745C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.997C>T	6.37:g.25488745C>T	ENSP00000331983:p.Pro333Ser						p.P333S	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			13	1365	+			333					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.997C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246328	0.22796	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54675	0.56	4.99	4.13	0.48395	.	0.321867	0.33610	N	0.004730	T	0.16514	0.0397	N	0.22421	0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19148	0.004;0.004;0.024	T	0.08827	-1.0703	10	0.08381	T	0.77	.	10.5987	0.45354	0.0:0.8302:0.0:0.1698	.	333;333;333	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	333	ENSP00000331983:P333S	ENSP00000331983:P333S	P	+	1	0	LRRC16A	25596724	1.000000	0.71417	0.868000	0.34077	0.725000	0.41563	5.489000	0.66875	1.230000	0.43646	-0.136000	0.14681	CCA		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		120	557	0	0	0	1	0	120	557					T	25488745	C	T	25488745	3	4	79	1	0	0	0	0	1	0	0	0	9009	855	30	2	1047	2	LRRC16A	6	25488745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22581	25488745	145626322	7064	17381											
LRRC16A	55604	broad.mit.edu	37	chr6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaaaagaagtacctccatCtttcaagcaattttttagta	6	7	2	1	rs370215465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	415					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1243-1245)tCt>tTt		leucine rich repeat containing 16A							131	124	126					6																	25495362		1838	4087	5925	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25495362C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1244C>T	6.37:g.25495362C>T	ENSP00000331983:p.Ser415Phe						p.S415F	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			16	1612	+			415					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1244C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913803	0.92178	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54279	0.58	5.4	5.4	0.78164	.	0.101931	0.64402	D	0.000001	T	0.67599	0.2910	M	0.74467	2.265	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	P;P;D	0.63703	0.877;0.851;0.917	T	0.70550	-0.4841	10	0.72032	D	0.01	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	415;415;415	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	415	ENSP00000331983:S415F	ENSP00000331983:S415F	S	+	2	0	LRRC16A	25603341	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	6.980000	0.76160	2.695000	0.91970	0.561000	0.74099	TCT		0.373	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		40	238	0	0	0	1	0	40	238					T	25495362	C	T	25495362	3	4	79	1	0	0	0	0	1	0	0	0	9009	913	32	2	1306	2	LRRC16A	6	25495362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6617	25495362	145619705	7065	17382											
LRRC16A	55604	broad.mit.edu	37	chr6	25515950	25515950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgaaactcaagactgaggtCaccatcatcatcaatgccct	6	13	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	560					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1678-1680)gtC>gtA		leucine rich repeat containing 16A							52	56	55					6																	25515950		2172	4290	6462	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25515950C>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1680C>A	6.37:g.25515950C>A							p.V560V	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			21	2048	+			560					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.1680C>A	CCDS54973.1																																																																																				0.557	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		13	55	1	0	1.3612e-06	1	1.40558e-06	13	55					A	25515950	C	A	25515950	2	1	79	1	0	0	0	0	0	0	0	1	9009	813	29	3		3	LRRC16A	6	25515950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20588	25515950	145599117	7066	17383											
SCGN	10590	broad.mit.edu	37	chr6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacctctttcttcaccacaAaaaggccatttctgaggcta	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	142						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(424-426)aAa>aTa		secretagogin, EF-hand calcium binding protein							156	161	159					6																	25670258		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670258A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.425A>T	6.37:g.25670258A>T	ENSP00000367197:p.Lys142Ile					SCGN_ENST00000334979.6_3'UTR	p.K142I	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	593	+			142					A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.425A>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000079689	ENST00000377961	T	0.10382	2.88	5.6	1.81	0.25067	EF-hand-like domain (1);	0.407309	0.30859	N	0.008740	T	0.09423	0.0232	M	0.84585	2.705	0.44643	D	0.997626	B	0.23249	0.082	B	0.32022	0.139	T	0.02404	-1.1164	10	0.66056	D	0.02	.	11.0391	0.47820	0.7965:0.0:0.2035:0.0	.	142	O76038	SEGN_HUMAN	I	142	ENSP00000367197:K142I	ENSP00000367197:K142I	K	+	2	0	SCGN	25778237	0.009000	0.17119	0.185000	0.23176	0.961000	0.63080	1.379000	0.34340	-0.163000	0.10946	-1.450000	0.01041	AAA		0.453	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			145	706	0	0	0	1	0	145	706					T	25670258	A	T	25670258	3	4	79	1	0	0	0	0	1	0	0	0	13953	14	1	5	447	5	SCGN	6	25670258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154308	25670258	145444809	7067	17384											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaaaagcttattgagttCctcatcattgcggatcgcta	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(277-279)Gaa>Aaa		histone cluster 1, H2aa							301	254	270					6																	25726479		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726479C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.277G>A	6.37:g.25726479C>T	ENSP00000297012:p.Glu93Lys						p.E93K	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	311	-			93						Missense_Mutation	SNP	ENST00000297012.3	37	c.277G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959682	0.34565	.	.	ENSG00000164508	ENST00000297012	T	0.51325	0.71	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (1);	0.000000	0.50627	D	0.000116	T	0.67571	0.2907	H	0.95470	3.675	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.74907	-0.3504	10	0.87932	D	0	.	9.4106	0.38489	0.0:0.8916:0.0:0.1084	.	93	Q96QV6	H2A1A_HUMAN	K	93	ENSP00000297012:E93K	ENSP00000297012:E93K	E	-	1	0	HIST1H2AA	25834458	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.388000	0.66249	1.133000	0.42147	-0.142000	0.14014	GAA		0.542	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		179	700	0	0	0	1	0	179	700					T	25726479	C	T	25726479	3	4	79	1	0	0	0	0	1	0	0	0	7158	864	30	2	122	2	HIST1H2AA	6	25726479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56221	25726479	145388588	7068	17385											
SLC17A4	10050	broad.mit.edu	37	chr6	25769379	25769379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctccactgactcccaGggctactggaatgaaactct	9	15	1	2	rs376073753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000439485.2_Silent_p.Q86Q|SLC17A4_ENST00000397076.2_Silent_p.Q32Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	86					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		18938	0.0		0.0	False		,,,				2504	0.002					ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(256-258)caG>caA		solute carrier family 17, member 4		G		0,4406		0,0,2203	71	76	74		258	1.6	0.1	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A4	NM_005495.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		86/498	25769379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769379G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.258G>A	6.37:g.25769379G>A						SLC17A4_ENST00000397076.2_Silent_p.Q32Q|SLC17A4_ENST00000439485.2_Silent_p.Q86Q	p.Q86Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			3	377	+			86					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.258G>A	CCDS4564.1																																																																																				0.428	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			59	268	0	0	0	1	0	59	268					A	25769379	G	A	25769379	2	1	79	1	0	0	0	0	0	0	0	1	14469	991	35	2		2	SLC17A4	6	25769379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42900	25769379	145345688	7069	17386											
SLC17A4	10050	broad.mit.edu	37	chr6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagaccataggatggCcttacgtcttctatatcttt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	229					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(685-687)Cct>Tct		solute carrier family 17, member 4							297	277	284					6																	25771219		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25771219C>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.685C>T	6.37:g.25771219C>T	ENSP00000367137:p.Pro229Ser					SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	p.P229S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			6	804	+			229					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.685C>T	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207591	0.79240	.	.	ENSG00000146039	ENST00000377905	T	0.58358	0.34	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399292	0.21607	N	0.071844	T	0.65801	0.2726	M	0.75085	2.285	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	T	0.62006	-0.6945	10	0.37606	T	0.19	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	229	Q9Y2C5	S17A4_HUMAN	S	229	ENSP00000367137:P229S	ENSP00000367137:P229S	P	+	1	0	SLC17A4	25879198	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.603000	0.46266	2.860000	0.98153	0.655000	0.94253	CCT		0.443	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			54	791	0	0	0	1	0	54	791					T	25771219	C	T	25771219	3	4	79	1	0	0	0	0	1	0	0	0	14469	739	26	2	703	2	SLC17A4	6	25771219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1840	25771219	145343848	7070	17387											
SLC17A1	6568	broad.mit.edu	37	chr6	25811866	25811866	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctggctgttgcttacCtgctgctgtgaagagtttcc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000427328.1_Splice_Site_p.G290*|SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000476801.1_Splice_Site_p.G344*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTGCTTACCTGCTGCTGTG	0.468																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.e9+1		solute carrier family 17 (organic anion transporter), member 1							92	84	87					6																	25811866		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25811866C>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1030+1G>T	6.37:g.25811866C>A						SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice	p.G344_splice	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			9	1145	-			344					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	37	c.1030_splice	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242864	0.58995	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.48	3.48	0.39840	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7785	0.46363	0.0:1.0:0.0:0.0	.	.	.	.	X	344;290;344;290	.	.	G	-	1	0	SLC17A1	25919845	0.996000	0.38824	0.975000	0.42487	0.106000	0.19336	4.214000	0.58527	2.248000	0.74166	0.650000	0.86243	GGA		0.468	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Nonsense_Mutation	56	289	1	0	9.59835e-30	1	1.1228e-29	56	289					A	25811866	C	A	25811866	5	1	79	1	0	0	0	0	0	0	1	0	14466	695	24	3	389	3	SLC17A1	6	25811866	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40647	25811866	145303201	7071	17388											
SLC17A3	10786	broad.mit.edu	37	chr6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggaggatatgatgtaTtctttttctgaggtgcttat	10	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000360657.3	-	6	855	c.570A>C	c.(568-570)gaA>gaC	p.E190D	SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D|SLC17A3_ENST00000397060.4_Missense_Mutation_p.E268D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	190					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(802-804)gaA>gaC		solute carrier family 17 (organic anion transporter), member 3							158	153	155					6																	25851014		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25851014T>G	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.570A>C	6.37:g.25851014T>G	ENSP00000353873:p.Glu190Asp					SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D|SLC17A3_ENST00000360657.3_Missense_Mutation_p.E190D	p.E268D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			7	913	-			190					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.804A>C	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119339	0.37436	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	0.898	0.19264	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.48767	D	0.000164	T	0.33000	0.0848	L	0.48877	1.53	0.31091	N	0.710852	B;P;B;P	0.35700	0.41;0.516;0.193;0.516	B;B;B;B	0.43867	0.241;0.434;0.306;0.267	T	0.18524	-1.0334	10	0.31617	T	0.26	.	7.0945	0.25301	0.0:0.2741:0.0:0.7259	.	190;249;268;190	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	D	268;190;190	ENSP00000380250:E268D;ENSP00000353873:E190D;ENSP00000355307:E190D	ENSP00000353873:E190D	E	-	3	2	SLC17A3	25958993	0.724000	0.28038	0.971000	0.41717	0.599000	0.36880	-0.729000	0.04920	-0.020000	0.14032	0.477000	0.44152	GAA		0.408	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			66	299	0	0	0	1	0	66	299					G	25851014	T	G	25851014	3	3	79	1	0	0	0	0	1	0	0	0	14468	1490	52	4	716	4	SLC17A3	6	25851014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39148	25851014	145264053	7072	17389											
SLC17A3	10786	broad.mit.edu	37	chr6	25862211	25862211	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccatagccaacagcaCcaaagatgatgccttggatt	8	12	0	2	rs376483140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862211C>T	ENST00000360657.3	-	3	589				SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000397060.4_Missense_Mutation_p.G117D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACAGCACCAAAGATGAT	0.448																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(349-351)gGt>gAt		solute carrier family 17 (organic anion transporter), member 3		C	ASP/GLY,	0,4174		0,0,2087	79	77	77		350,	0.7	0	6		77	1,8427		0,1,4213	no	missense,intron	SLC17A3	NM_001098486.1,NM_006632.3	94,	0,1,6300	TT,TC,CC		0.0119,0.0,0.0079	benign,	117/499,	25862211	1,12601	2087	4214	6301	SO:0001627	intron_variant	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862211C>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.303+249G>A	6.37:g.25862211C>T						SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	p.G117D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			4	459	-			0					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.350G>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340078	0.24339	0.0	1.19E-4	ENSG00000124564	ENST00000397060	T	0.59083	0.29	3.58	0.663	0.17885	.	.	.	.	.	T	0.61714	0.2369	M	0.86097	2.795	0.09310	N	1	P;D	0.56521	0.741;0.976	P;D	0.67548	0.593;0.952	T	0.51764	-0.8664	9	0.72032	D	0.01	.	6.6588	0.23002	0.1934:0.43:0.3766:0.0	.	98;117	B7Z3L7;B7Z511	.;.	D	117	ENSP00000380250:G117D	ENSP00000380250:G117D	G	-	2	0	SLC17A3	25970190	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.792000	0.26929	0.106000	0.17784	0.563000	0.77884	GGT		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			17	68	0	0	0	1	0	17	68					T	25862211	C	T	25862211	1	4	79	0	1	0	0	0	0	0	0	0	14468	507	18	2		2	SLC17A3	6	25862211	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	25862211	145252856	7073	17390											
SLC17A3	10786	broad.mit.edu	37	chr6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggattgagggcttgtgCtgttgaccatggctaccatg	15	8	0	2	rs370057568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000360657.3	-	3	491	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S69I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	69					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGGGCTTGTGCTGTTGACCAT	0.468																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(205-207)aGc>aTc		solute carrier family 17 (organic anion transporter), member 3		C	ILE/SER,ILE/SER	0,4406		0,0,2203	216	167	183		206,206	-0.3	0.9	6		183	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	142,142	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/499,69/421	25862558	1,13005	2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862558C>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.206G>T	6.37:g.25862558C>A	ENSP00000353873:p.Ser69Ile					SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S69I	p.S69I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			3	315	-			69					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.206G>T	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587124	0.28268	0.0	1.16E-4	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64260	0.37;-0.09;-0.09	3.81	-0.328	0.12690	.	0.911600	0.09094	N	0.849515	T	0.52533	0.1740	M	0.69523	2.12	0.20638	N	0.999876	P;D;P;P	0.53151	0.845;0.958;0.828;0.845	B;P;P;B	0.61201	0.298;0.885;0.781;0.298	T	0.42396	-0.9454	10	0.19590	T	0.45	.	4.2789	0.10822	0.0:0.4057:0.3677:0.2265	.	69;50;69;69	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	69	ENSP00000380250:S69I;ENSP00000353873:S69I;ENSP00000355307:S69I	ENSP00000353873:S69I	S	-	2	0	SLC17A3	25970537	0.239000	0.23836	0.874000	0.34290	0.911000	0.54048	-0.317000	0.08060	-0.091000	0.12440	0.557000	0.71058	AGC		0.468	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			25	401	1	0	1.85244e-09	1	1.95034e-09	25	401					A	25862558	C	A	25862558	3	1	79	1	0	0	0	0	1	0	0	0	14468	797	28	3	1330	3	SLC17A3	6	25862558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	25862558	145252509	7074	17391											
SLC17A2	10246	broad.mit.edu	37	chr6	25913550	25913550	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaactttatgtcctcagaGgcgggtaagggtcctctctt	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25913550G>A	ENST00000265425.3	-	0	1487				SLC17A2_ENST00000360488.3_Silent_p.A428A|SLC17A2_ENST00000377850.3_Missense_Mutation_p.L478F			O00624	NPT3_HUMAN	solute carrier family 17, member 2						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)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCCTCAGAGGCGGGTAAGG	0.428																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1432-1434)Ctc>Ttc		solute carrier family 17, member 2							141	132	135					6																	25913550		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25913550G>A	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.*147C>T	6.37:g.25913550G>A						SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.A428A	p.L478F			O00624	NPT3_HUMAN			12	1956	-			0					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.1432C>T		.	.	.	.	.	.	.	.	.	.	G	9.566	1.119743	0.20877	.	.	ENSG00000112337	ENST00000377850	T	0.65732	-0.17	5.19	3.19	0.36642	.	0.238834	0.30142	N	0.010305	T	0.45975	0.1369	.	.	.	0.09310	N	1	P	0.52170	0.951	P	0.49301	0.606	T	0.40270	-0.9572	9	0.87932	D	0	.	5.9941	0.19483	0.108:0.1876:0.7045:0.0	.	478	A6NK81	.	F	478	ENSP00000367081:L478F	ENSP00000367081:L478F	L	-	1	0	SLC17A2	26021529	0.944000	0.32072	0.801000	0.32222	0.001000	0.01503	0.297000	0.19101	1.490000	0.48466	-0.355000	0.07637	CTC		0.428	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			100	483	0	0	0	1	0	100	483					A	25913550	G	A	25913550	1	1	79	0	1	0	0	0	0	0	0	0	14467	987	35	2		2	SLC17A2	6	25913550	3'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50992	25913550	145201517	7075	17392											
SLC17A2	10246	broad.mit.edu	37	chr6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagatgaaaagagctttcGcacagtgatcaatctgagaa	10	6	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000265425.3	-	8	1062	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					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)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1042-1044)Cga>Tga		solute carrier family 17, member 2							88	87	87					6																	25915985		2203	4300	6503	SO:0001587	stop_gained	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25915985G>A	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.1042C>T	6.37:g.25915985G>A	ENSP00000265425:p.Arg348*					SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*	p.R348*			O00624	NPT3_HUMAN			9	1566	-			348					A6NK81|A6NLD6|Q5TB84|Q76P85	Nonsense_Mutation	SNP	ENST00000265425.3	37	c.1042C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.098953	0.98654	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	.	.	.	4.93	3.12	0.35913	.	0.000000	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6349	0.45558	0.0:0.0:0.667:0.333	.	.	.	.	X	348	.	ENSP00000265425:R348X	R	-	1	2	SLC17A2	26023964	0.983000	0.35010	0.966000	0.40874	0.795000	0.44927	2.267000	0.43329	0.774000	0.33427	-0.975000	0.02590	CGA		0.473	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			67	296	0	0	0	1	0	67	296					A	25915985	G	A	25915985	4	1	79	1	0	0	0	0	0	1	0	0	14467	1095	38	1	280	1	SLC17A2	6	25915985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2435	25915985	145199082	7076	17393											
TRIM38	10475	broad.mit.edu	37	chr6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagattcagagacaaaAaatccggtctgactttaaga	9	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	178					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(532-534)aAa>aCa		tripartite motif containing 38							55	55	55					6																	25972122		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972122A>C	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.533A>C	6.37:g.25972122A>C	ENSP00000349596:p.Lys178Thr					TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			5	1009	+			178					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.533A>C	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	3.568	-0.088221	0.07097	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04502	3.61;3.61;3.61	4.55	0.716	0.18191	.	0.495426	0.17267	N	0.180553	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.20577	0.03	T	0.46498	-0.9187	10	0.45353	T	0.12	.	5.0157	0.14335	0.5343:0.3685:0.0971:0.0	.	178	O00635	TRI38_HUMAN	T	178	ENSP00000443976:K178T;ENSP00000230099:K178T;ENSP00000349596:K178T	ENSP00000230099:K178T	K	+	2	0	TRIM38	26080101	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	0.306000	0.19279	0.123000	0.18342	-0.313000	0.08912	AAA		0.403	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			49	206	0	0	0	1	0	49	206					C	25972122	A	C	25972122	3	2	79	1	0	0	0	0	1	0	0	0	16565	14	1	4	543	4	TRIM38	6	25972122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56137	25972122	145142945	7077	17394											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttggcttcgtcaccctaGccttggccgccttgggtttt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	197					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(589-591)gCt>gAt		histone cluster 1, H1a							137	141	140					6																	26017371		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017371G>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.590C>A	6.37:g.26017371G>T	ENSP00000244573:p.Ala197Asp						p.A197D	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	669	-			197					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.590C>A	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.614	1.131968	0.21041	.	.	ENSG00000124610	ENST00000244573	T	0.15017	2.46	4.31	0.178	0.15058	.	0.421494	0.25194	N	0.032428	T	0.04407	0.0121	L	0.34521	1.04	0.29056	N	0.884229	B	0.32245	0.361	B	0.32289	0.143	T	0.29731	-1.0002	10	0.52906	T	0.07	-0.0034	9.339	0.38067	0.3167:0.0:0.6833:0.0	.	197	Q02539	H11_HUMAN	D	197	ENSP00000244573:A197D	ENSP00000244573:A197D	A	-	2	0	HIST1H1A	26125350	0.321000	0.24625	0.001000	0.08648	0.193000	0.23685	1.411000	0.34702	-0.110000	0.12022	-0.320000	0.08662	GCT		0.438	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		174	869	1	0	2.98797e-67	1	3.78391e-67	174	869					T	26017371	G	T	26017371	3	4	79	1	0	0	0	0	1	0	0	0	7152	971	34	3	61	3	HIST1H1A	6	26017371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45249	26017371	145097696	7078	17395											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031956	26031956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcttagcatggatggcGcaaaggtttgtgtcctcaaa	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	111					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(331-333)tgC>tgT		histone cluster 1, H3b							77	77	77					6																	26031956		2203	4300	6503	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031956G>A	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.333C>T	6.37:g.26031956G>A							p.C111C	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	332	-			111					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.333C>T	CCDS4573.1																																																																																				0.517	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		94	311	0	0	0	1	0	94	311					A	26031956	G	A	26031956	2	1	79	1	0	0	0	0	0	0	0	1	7186	1079	38	1		1	HIST1H3B	6	26031956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14585	26031956	145083111	7079	17396											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056411	26056411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggctcttgagaccAagtttgatacggctgttgtt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	82	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(244-246)ctT>ctC		histone cluster 1, H1c							112	117	115					6																	26056411		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056411A>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.246T>C	6.37:g.26056411A>G							p.L82L	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	288	-			82			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.246T>C	CCDS4577.1																																																																																				0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		172	710	0	0	0	1	0	172	710					G	26056411	A	G	26056411	2	3	79	1	0	0	0	0	0	0	0	1	7154	117	5	4		4	HIST1H1C	6	26056411	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24455	26056411	145058656	7080	17397											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactaagcttaaaggaacCggaagcaccagtacccctgg	9	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	107	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(319-321)Ggt>Agt		histone cluster 1, H1t							95	94	94					6																	26108003		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108003C>T	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.319G>A	6.37:g.26108003C>T	ENSP00000341214:p.Gly107Ser						p.G107S	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	361	-			107			H15.		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.319G>A	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922252	0.73213	.	.	ENSG00000187475	ENST00000338379	T	0.57907	0.37	5.38	5.38	0.77491	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	-22.0053	18.3099	0.90195	0.0:1.0:0.0:0.0	.	107	P22492	H1T_HUMAN	S	107	ENSP00000341214:G107S	ENSP00000341214:G107S	G	-	1	0	HIST1H1T	26215982	1.000000	0.71417	0.222000	0.23844	0.012000	0.07955	5.912000	0.69948	2.802000	0.96397	0.655000	0.94253	GGT		0.463	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		88	386	0	0	0	1	0	88	386					T	26108003	C	T	26108003	3	4	79	1	0	0	0	0	1	0	0	0	7157	652	23	1	308	1	HIST1H1T	6	26108003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51592	26108003	145007064	7081	17398											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108109	26108109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtcgtagccagcagcGgccaatgccttcttgagcgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	71	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(211-213)gcC>gcT		histone cluster 1, H1t							130	117	122					6																	26108109		2203	4300	6503	SO:0001819	synonymous_variant	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108109G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.213C>T	6.37:g.26108109G>A							p.A71A	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	255	-			71			H15.		Q6ISI1|Q8IUE8	Silent	SNP	ENST00000338379.4	37	c.213C>T	CCDS34349.1																																																																																				0.522	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		103	376	0	0	0	1	0	103	376					A	26108109	G	A	26108109	2	1	79	1	0	0	0	0	0	0	0	1	7157	1103	39	1		1	HIST1H1T	6	26108109	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	26108109	145006958	7082	17399											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggcgcccaagagcccaGcgaaggccaaagcagttaaa	11	11	0	1	rs372876447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(565-567)Gcg>Acg		histone cluster 1, H1e		G	THR/ALA	0,4402		0,0,2201	27	28	27		565	5.5	0.9	6		27	1,8595		0,1,4297	no	missense	HIST1H1E	NM_005321.2	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	189/220	26157183	1,12997	2201	4298	6499	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157183G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.565G>A	6.37:g.26157183G>A	ENSP00000307705:p.Ala189Thr						p.A189T	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	625	+			189					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.565G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658789	0.67586	0.0	1.16E-4	ENSG00000168298	ENST00000304218	T	0.23147	1.92	5.48	5.48	0.80851	.	0.281102	0.33217	N	0.005152	T	0.25754	0.0627	M	0.69523	2.12	0.43230	D	0.995122	P	0.51057	0.941	B	0.43889	0.435	T	0.06041	-1.0849	10	0.51188	T	0.08	-4.8345	18.6997	0.91615	0.0:0.0:1.0:0.0	.	189	P10412	H14_HUMAN	T	189	ENSP00000307705:A189T	ENSP00000307705:A189T	A	+	1	0	HIST1H1E	26265162	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	4.418000	0.59828	2.717000	0.92951	0.655000	0.94253	GCG		0.542	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		28	145	0	0	0	1	0	28	145					A	26157183	G	A	26157183	3	1	79	1	0	0	0	0	1	0	0	0	7156	971	34	2	567	2	HIST1H1E	6	26157183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49074	26157183	144957884	7083	17400											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacccttacctagaccCtttccgcccttaccgcggcc	7	21	0	1	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	9					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(25-27)aaG>aaT		histone cluster 1, H4d							54	58	57					6																	26189278		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189278C>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"Histones / Replication-dependent"	4782	protein-coding gene	gene with protein product		602823	"H4 histone family, member B", "histone 1, H4d"	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.27G>T	6.37:g.26189278C>A	ENSP00000343282:p.Lys9Asn						p.K9N	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	26	-		all_hematologic(11;0.196)	9					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.27G>T	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363931	0.24684	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	.	.	.	0.34101	D	0.66189	.	.	.	.	.	.	T	0.56456	-0.7976	6	0.87932	D	0	.	10.6325	0.45545	0.0:0.8096:0.0:0.1904	.	.	.	.	N	9	.	ENSP00000343282:K9N	K	-	3	2	HIST1H4D	26297257	0.016000	0.18221	0.761000	0.31378	0.007000	0.05969	-0.857000	0.04286	0.127000	0.18452	-0.145000	0.13849	AAG		0.552	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		61	438	1	0	1.26778e-28	1	1.47706e-28	61	438					A	26189278	C	A	26189278	3	1	79	1	0	0	0	0	1	0	0	0	7198	680	24	3	288	3	HIST1H4D	6	26189278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32095	26189278	144925789	7084	17401											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcaccaagtacaccagCtctaagtaattctaacgtct	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	124					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(370-372)agC>agA		histone cluster 1, H2bf							57	62	60					6																	26200158		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200158C>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.372C>A	6.37:g.26200158C>A	ENSP00000353074:p.Ser124Arg						p.S124R	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	411	+		all_hematologic(11;0.196)	124					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.372C>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113885	0.56398	.	.	ENSG00000197846	ENST00000359985	T	0.24538	1.85	3.89	2.08	0.27032	.	0.000000	0.64402	D	0.000004	T	0.18509	0.0444	.	.	.	0.30597	N	0.760949	.	.	.	.	.	.	T	0.03717	-1.1010	7	0.87932	D	0	.	9.6316	0.39782	0.0:0.8218:0.0:0.1782	.	.	.	.	R	124	ENSP00000353074:S124R	ENSP00000353074:S124R	S	+	3	2	HIST1H2BF	26308137	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.138000	0.42140	0.384000	0.24942	-0.827000	0.03088	AGC		0.527	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		53	278	1	0	7.36392e-32	1	8.68075e-32	53	278					A	26200158	C	A	26200158	3	1	79	1	0	0	0	0	1	0	0	0	7175	796	28	3	374	3	HIST1H2BF	6	26200158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10880	26200158	144914909	7085	17402											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatacttggtgacagcctTggtaccttcggacactgcgt	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	117					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(349-351)Aag>Gag		histone cluster 1, H2bg							99	99	99					6																	26216523		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216523T>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.349A>G	6.37:g.26216523T>C	ENSP00000244601:p.Lys117Glu						p.K117E	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	349	-		all_hematologic(11;0.196)	117					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.349A>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149696	0.37923	.	.	ENSG00000187990	ENST00000244601	T	0.46063	0.88	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.41143	0.1146	.	.	.	0.34553	D	0.71154	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.59425	D	0.04	.	12.3158	0.54955	0.0:0.0:0.0:1.0	.	.	.	.	E	117	ENSP00000244601:K117E	ENSP00000244601:K117E	K	-	1	0	HIST1H2BG	26324502	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.711000	0.84669	1.762000	0.52044	0.459000	0.35465	AAG		0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		127	558	0	0	0	1	0	127	558					C	26216523	T	C	26216523	3	2	79	1	0	0	0	0	1	0	0	0	7176	1821	63	4	35	4	HIST1H2BG	6	26216523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16365	26216523	144898544	7086	17403											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216590	26216590	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacgcacggcggtctggatCtccctggaggtaatggtcga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(280-282)gaG>gaA		histone cluster 1, H2bg							95	95	95					6																	26216590		2203	4300	6503	SO:0001819	synonymous_variant	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216590C>T	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.282G>A	6.37:g.26216590C>T							p.E94E	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	282	-		all_hematologic(11;0.196)	94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000244601.3	37	c.282G>A	CCDS4594.1																																																																																				0.562	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		126	568	0	0	0	1	0	126	568					T	26216590	C	T	26216590	2	4	79	1	0	0	0	0	0	0	0	1	7176	912	32	2		2	HIST1H2BG	6	26216590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	26216590	144898477	7087	17404											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217493	26217493	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggagctaaataagctTctaggtcgcgtgaccatcgc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	97						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(289-291)ctT>ctG		histone cluster 1, H2ae							79	77	78					6																	26217493		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217493T>G	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.291T>G	6.37:g.26217493T>G							p.L97L	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	329	+		all_hematologic(11;0.196)	97					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.291T>G	CCDS4595.1																																																																																				0.592	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		79	348	0	0	0	1	0	79	348					G	26217493	T	G	26217493	2	3	79	1	0	0	0	0	0	0	0	1	7162	1770	62	4		4	HIST1H2AE	6	26217493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	903	26217493	144897574	7088	17405											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggcttaggggctttgGccttagctggactcttggca	14	10	1	0	rs563408211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	193					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15425	0.0		0.0	False		,,,				2504	0.0					ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(577-579)gCc>gTc		histone cluster 1, H1d							90	96	94					6																	26234584		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234584G>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.578C>T	6.37:g.26234584G>A	ENSP00000244534:p.Ala193Val						p.A193V	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	632	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	193					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.578C>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.110943	0.37242	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.12	4.25	0.50352	.	0.281601	0.28241	N	0.016063	T	0.02649	0.0080	N	0.08118	0	0.42787	D	0.993885	B	0.06786	0.001	B	0.09377	0.004	T	0.21042	-1.0257	10	0.72032	D	0.01	-16.8507	8.2884	0.31943	0.0797:0.0:0.7667:0.1536	.	193	P16402	H13_HUMAN	V	193	ENSP00000244534:A193V	ENSP00000244534:A193V	A	-	2	0	HIST1H1D	26342563	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	3.916000	0.56416	1.300000	0.44818	0.650000	0.86243	GCC		0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		128	493	0	0	0	1	0	128	493					A	26234584	G	A	26234584	3	1	79	1	0	0	0	0	1	0	0	0	7155	1203	42	2	91	2	HIST1H1D	6	26234584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17091	26234584	144880483	7089	17406											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcttctttaccttctTaggagtctttttgatgcttt	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	157					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(469-471)Aag>Gag		histone cluster 1, H1d							89	95	93					6																	26234693		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234693T>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.469A>G	6.37:g.26234693T>C	ENSP00000244534:p.Lys157Glu						p.K157E	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	523	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	157					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.469A>G	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527109	0.44969	.	.	ENSG00000124575	ENST00000244534	T	0.26518	1.73	5.22	5.22	0.72569	.	0.162509	0.52532	D	0.000080	T	0.20700	0.0498	N	0.08118	0	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.33879	-0.9851	10	0.66056	D	0.02	-6.8494	14.5864	0.68328	0.0:0.0:0.0:1.0	.	157	P16402	H13_HUMAN	E	157	ENSP00000244534:K157E	ENSP00000244534:K157E	K	-	1	0	HIST1H1D	26342672	1.000000	0.71417	0.883000	0.34634	0.006000	0.05464	5.885000	0.69736	2.115000	0.64714	0.528000	0.53228	AAG		0.552	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		116	542	0	0	0	1	0	116	542					C	26234693	T	C	26234693	3	2	79	1	0	0	0	0	1	0	0	0	7155	1763	61	4	200	4	HIST1H1D	6	26234693	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	26234693	144880374	7090	17407											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttggtaatgccctgaatAttatcgctcagtaccttgcg	8	11	1	1	rs202075617	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	26						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(76-78)aaT>aaA		histone cluster 1, H4g							55	51	52					6																	26247128		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247128A>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.78T>A	6.37:g.26247128A>T	ENSP00000244537:p.Asn26Lys						p.N26K	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	131	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	26						Missense_Mutation	SNP	ENST00000244537.4	37	c.78T>A	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.463	0.855664	0.17106	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	0.309	0.15820	Histone-fold (2);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.31287	N	0.689934	P	0.50443	0.935	P	0.53760	0.734	T	0.35051	-0.9804	7	0.87932	D	0	.	10.5532	0.45101	0.1981:0.0:0.8019:0.0	.	26	Q99525	H4G_HUMAN	K	26	.	ENSP00000244537:N26K	N	-	3	2	HIST1H4G	26355107	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	2.112000	0.41892	0.193000	0.20303	-1.877000	0.00547	AAT		0.552	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		50	203	0	0	0	1	0	50	203					T	26247128	A	T	26247128	3	4	79	1	0	0	0	0	1	0	0	0	7201	446	16	5	222	5	HIST1H4G	6	26247128	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12435	26247128	144867939	7091	17408											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctactccgtatacgtttAcaaggtgctgaagcaagtcc	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	43					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562																																						ENST00000356350.2																			0				NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						c.(127-129)tAc>tGc		histone cluster 1, H2bh							153	138	143					6																	26252006		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252006A>G	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.128A>G	6.37:g.26252006A>G	ENSP00000348706:p.Tyr43Cys						p.Y43C	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN			1	128	+			43					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.128A>G	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396033	0.83011	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.55609	0.1931	H	0.95712	3.71	0.41038	D	0.985201	D	0.89917	1.0	D	0.80764	0.994	T	0.71056	-0.4703	9	0.87932	D	0	.	14.1186	0.65172	1.0:0.0:0.0:0.0	.	43	Q93079	H2B1H_HUMAN	C	43	ENSP00000348706:Y43C	ENSP00000348706:Y43C	Y	+	2	0	HIST1H2BH	26359985	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.981000	0.93465	2.070000	0.61991	0.533000	0.62120	TAC		0.562	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		153	704	0	0	0	1	0	153	704					G	26252006	A	G	26252006	3	3	79	1	0	0	0	0	1	0	0	0	7177	391	14	4	130	4	HIST1H2BH	6	26252006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4878	26252006	144863061	7092	17409											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagccacggtgccgggaCggtagcgatgaggtttcttc	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(127-129)cGt>cAt		histone cluster 1, H3g							50	54	52					6																	26271485		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271485C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>A	6.37:g.26271485C>T	ENSP00000439660:p.Arg43His						p.R43H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	127	-			43					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.128G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442606	0.25987	.	.	ENSG00000256018	ENST00000305910	T	0.50813	0.73	4.56	3.7	0.42460	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.27360	N	0.955999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.66056	D	0.02	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	H	43	ENSP00000439660:R43H	ENSP00000439660:R43H	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT		0.637	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		19	486	0	0	0	1	0	19	486					T	26271485	C	T	26271485	3	4	79	1	0	0	0	0	1	0	0	0	7191	536	19	1	286	1	HIST1H3G	6	26271485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19479	26271485	144843582	7093	17410											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcgcattataacaagCgctcgaccatcacttccagg	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	87					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(259-261)Cgc>Tgc		histone cluster 1, H2bi							89	89	89					6																	26273462		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273462C>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.259C>T	6.37:g.26273462C>T	ENSP00000366962:p.Arg87Cys						p.R87C	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	319	+			87					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.259C>T	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.184707	0.57909	.	.	ENSG00000168242	ENST00000377733	T	0.78003	-1.14	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	D	0.87513	0.6196	M	0.91717	3.235	0.41726	D	0.989538	.	.	.	.	.	.	D	0.89578	0.3818	8	0.51188	T	0.08	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	87	ENSP00000366962:R87C	ENSP00000366962:R87C	R	+	1	0	HIST1H2BI	26381441	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.125000	0.50469	2.058000	0.61347	0.563000	0.77884	CGC		0.602	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		146	559	0	0	0	1	0	146	559					T	26273462	C	T	26273462	3	4	79	1	0	0	0	0	1	0	0	0	7178	768	27	1	261	1	HIST1H2BI	6	26273462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1977	26273462	144841605	7094	17411											
BTN3A2	11118	broad.mit.edu	37	chr6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcacgtcgaagtgaaGggttatgaggatggagggat	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	155					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(463-465)aaG>aaT		butyrophilin, subfamily 3, member A2							106	95	99					6																	26370581		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370581G>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.465G>T	6.37:g.26370581G>T	ENSP00000348751:p.Lys155Asn					BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N	p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	653	+			155					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.465G>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.198784	0.38806	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13901	2.55;3.28;4.04;4.04;3.89;4.04;4.04;4.45	2.84	-1.73	0.08081	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.87381	2.88	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.04078	-1.0979	9	0.72032	D	0.01	.	2.5861	0.04830	0.469:0.0:0.3088:0.2221	.	132;155	F8W6E0;P78410	.;BT3A2_HUMAN	N	113;113;155;155;155;132;155;155;113	ENSP00000435952:K113N;ENSP00000434102:K113N;ENSP00000432138:K155N;ENSP00000348751:K155N;ENSP00000380140:K132N;ENSP00000366937:K155N;ENSP00000380152:K155N;ENSP00000442687:K113N	ENSP00000348751:K155N	K	+	3	2	BTN3A2	26478560	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.233000	0.09041	-0.301000	0.08882	0.405000	0.27470	AAG		0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			35	283	1	0	3.03874e-20	1	3.40186e-20	35	283					T	26370581	G	T	26370581	3	4	79	1	0	0	0	0	1	0	0	0	1567	991	35	3	475	3	BTN3A2	6	26370581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97119	26370581	144744486	7095	17412											
BTN3A2	11118	broad.mit.edu	37	chr6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatacagtggagcaacgCcaagggagagaacatcccag	11	11	0	1	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	182			A -> T (in dbSNP:rs12205731). {ECO:0000269|PubMed:14702039}.		interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(544-546)gCc>gAc		butyrophilin, subfamily 3, member A2		C	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	132	118	122		545,545,476,419,545	-2.6	0	6	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	126,126,126,126,126	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	182/335,182/335,159/312,140/293,182/335	26370661	2,13004	2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370661C>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.545C>A	6.37:g.26370661C>A	ENSP00000348751:p.Ala182Asp					BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D	p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	733	+			182		A -> T (in dbSNP:rs12205731).			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.545C>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	1.724	-0.495838	0.04291	2.27E-4	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.73152	-0.72;3.28;3.28;3.28;3.28;3.28;3.28	2.31	-2.56	0.06268	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39118	0.1066	M	0.71036	2.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29336	-1.0015	9	0.42905	T	0.14	.	0.2854	0.00250	0.2052:0.3016:0.2027:0.2904	.	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	D	140;182;182;182;159;182;182;140	ENSP00000435952:A140D;ENSP00000432138:A182D;ENSP00000348751:A182D;ENSP00000380140:A159D;ENSP00000366937:A182D;ENSP00000380152:A182D;ENSP00000442687:A140D	ENSP00000348751:A182D	A	+	2	0	BTN3A2	26478640	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.692000	0.05127	-0.704000	0.05042	0.405000	0.27470	GCC		0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			30	420	1	0	1.49552e-23	1	1.70131e-23	30	420					A	26370661	C	A	26370661	3	1	79	1	0	0	0	0	1	0	0	0	1567	739	26	3	555	3	BTN3A2	6	26370661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	26370661	144744406	7096	17413											
BTN3A2	11118	broad.mit.edu	37	chr6	26370752	26370752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctgtgatcatgagaggCggctccggggagggtgtatc	17	8	2	2	rs559179512		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370752C>T	ENST00000356386.2	+	5	824	c.636C>T	c.(634-636)ggC>ggT	p.G212G	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000527422.1_Silent_p.G212G|BTN3A2_ENST00000377708.2_Silent_p.G212G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	212				RG -> KS (in Ref. 3; AAF76140). {ECO:0000305}.	interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCATGAGAGGCGGCTCCGGGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18223	0.001		0.0	False		,,,				2504	0.0					ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(634-636)ggC>ggT		butyrophilin, subfamily 3, member A2							141	138	139					6																	26370752		2203	4300	6503	SO:0001819	synonymous_variant	11118					integral to membrane		g.chr6:26370752C>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.636C>T	6.37:g.26370752C>T						BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.G212G|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000527422.1_Silent_p.G212G	p.G212G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	824	+			212	RG -> KS (in Ref. 3; AAF76140).				B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	ENST00000356386.2	37	c.636C>T	CCDS4605.1																																																																																				0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			116	610	0	0	0	1	0	116	610					T	26370752	C	T	26370752	2	4	79	1	0	0	0	0	0	0	0	1	1567	755	27	1		1	BTN3A2	6	26370752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91	26370752	144744315	7097	17414											
BTN3A1	11119	broad.mit.edu	37	chr6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgggggagccggtTacttcctgtggcaacagcag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	268					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(802-804)Tac>Cac		butyrophilin, subfamily 3, member A1							67	75	72					6																	26409847		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26409847T>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.802T>C	6.37:g.26409847T>C	ENSP00000289361:p.Tyr268His					BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H	p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			5	1170	+			268					A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.802T>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.709	0.911664	0.17833	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.50813	3.81;1.11;3.78;0.73	1.49	1.49	0.22878	.	.	.	.	.	T	0.40862	0.1134	M	0.77616	2.38	0.09310	N	1	P;D;D;P	0.59767	0.956;0.986;0.986;0.906	P;P;P;B	0.54100	0.459;0.742;0.742;0.36	T	0.14531	-1.0469	9	0.51188	T	0.08	.	5.0923	0.14715	0.0:0.0:0.0:1.0	.	216;268;268;268	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	268;268;268;216	ENSP00000420010:Y268H;ENSP00000289361:Y268H;ENSP00000396684:Y268H;ENSP00000406667:Y216H	ENSP00000289361:Y268H	Y	+	1	0	BTN3A1	26517826	0.002000	0.14202	0.023000	0.16930	0.033000	0.12548	0.778000	0.26732	0.933000	0.37291	0.491000	0.48974	TAC		0.542	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			99	478	0	0	0	1	0	99	478					C	26409847	T	C	26409847	3	2	79	1	0	0	0	0	1	0	0	0	1566	1754	61	4	816	4	BTN3A1	6	26409847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39095	26409847	144705220	7098	17415											
BTN3A1	11119	broad.mit.edu	37	chr6	26413464	26413464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggaccagaggagtgtGcagcgtgccaaggagcccca	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1084-1086)gtG>gtA		butyrophilin, subfamily 3, member A1							133	144	140					6																	26413464		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid metabolic process	integral to membrane		g.chr6:26413464G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1086G>A	6.37:g.26413464G>A						BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	p.V362V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1454	+			362			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.1086G>A	CCDS4608.1																																																																																				0.502	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			117	572	0	0	0	1	0	117	572					A	26413464	G	A	26413464	2	1	79	1	0	0	0	0	0	0	0	1	1566	1306	46	2		2	BTN3A1	6	26413464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3617	26413464	144701603	7099	17416											
BTN2A1	11120	broad.mit.edu	37	chr6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacacaacatcacagcccagGaaaacggcacctaccgctgt	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000312541.5	+	3	603	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000429381.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	119	Ig-like V-type.			E -> G (in Ref. 1; AAC02650/AAC02653). {ECO:0000305}.	lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CACAGCCCAGGAAAACGGCAC	0.547																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(355-357)Gaa>Taa		butyrophilin, subfamily 2, member A1							119	90	100					6																	26459981		2203	4300	6503	SO:0001587	stop_gained	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26459981G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.355G>T	6.37:g.26459981G>T	ENSP00000312158:p.Glu119*					BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000312541.5_Nonsense_Mutation_p.E119*	p.E119*			Q7KYR7	BT2A1_HUMAN			3	567	+			119	E -> G (in Ref. 1; AAC02650/AAC02653).		Ig-like V-type.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Nonsense_Mutation	SNP	ENST00000312541.5	37	c.355G>T	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046061	0.55110	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.01	2.13	0.27403	.	0.523957	0.17331	N	0.178112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2759	0.31873	0.1251:0.0:0.8749:0.0	.	.	.	.	X	119;58;58;119;119;119	.	ENSP00000265424:E119X	E	+	1	0	BTN2A1	26567960	0.997000	0.39634	0.004000	0.12327	0.171000	0.22731	5.379000	0.66196	0.843000	0.35070	0.561000	0.74099	GAA		0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		9	224	1	0	2.52707e-12	1	2.7121e-12	9	224					T	26459981	G	T	26459981	4	4	79	1	0	0	0	0	0	1	0	0	1564	1175	41	3	361	3	BTN2A1	6	26459981	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46517	26459981	144655086	7100	17417											
BTN1A1	696	broad.mit.edu	37	chr6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcacatcagtatgcaAgttcaagagaatggagaaat	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	153	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(457-459)caA>caC		butyrophilin, subfamily 1, member A1							67	66	67					6																	26505184		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505184A>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.459A>C	6.37:g.26505184A>C	ENSP00000244513:p.Gln153His						p.Q153H	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			3	525	+			153			Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.459A>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100831	0.37048	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76448	-1.02	5.63	1.89	0.25635	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.847946	0.10453	N	0.672858	T	0.37128	0.0992	N	0.10760	0.04	0.22034	N	0.999404	B	0.14012	0.009	B	0.17979	0.02	T	0.36720	-0.9736	10	0.66056	D	0.02	.	6.3797	0.21527	0.6791:0.0:0.3209:0.0	.	153	Q13410	BT1A1_HUMAN	H	153	ENSP00000244513:Q153H	ENSP00000244513:Q153H	Q	+	3	2	BTN1A1	26613163	0.312000	0.24545	0.650000	0.29550	0.602000	0.36980	0.457000	0.21875	0.381000	0.24851	0.533000	0.62120	CAA		0.498	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		38	173	0	0	0	1	0	38	173					C	26505184	A	C	26505184	3	2	79	1	0	0	0	0	1	0	0	0	1563	69	3	4	469	4	BTN1A1	6	26505184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45203	26505184	144609883	7101	17418											
BTN1A1	696	broad.mit.edu	37	chr6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagacccagagagaggaGgaatgaattcagctctaaag	12	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	280						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(838-840)aGg>aAg		butyrophilin, subfamily 1, member A1							166	168	167					6																	26507040		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26507040G>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.839G>A	6.37:g.26507040G>A	ENSP00000244513:p.Arg280Lys						p.R280K	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			4	905	+			280					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.839G>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206364	0.01568	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35605	1.3	5.4	-2.07	0.07276	.	0.466636	0.20153	N	0.098120	T	0.02342	0.0072	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	.	5.2949	0.15747	0.4649:0.1578:0.3773:0.0	.	280	Q13410	BT1A1_HUMAN	K	280	ENSP00000244513:R280K	ENSP00000244513:R280K	R	+	2	0	BTN1A1	26615019	0.002000	0.14202	0.008000	0.14137	0.020000	0.10135	0.008000	0.13197	-0.187000	0.10516	-0.290000	0.09829	AGG		0.458	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		171	814	0	0	0	1	0	171	814					A	26507040	G	A	26507040	3	1	79	1	0	0	0	0	1	0	0	0	1563	1000	35	2	853	2	BTN1A1	6	26507040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1856	26507040	144608027	7102	17419											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagggtggacctgcttcaGaaccttgtacacatagatgg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	46					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(136-138)Ctg>Atg		histone cluster 1, H2bj							215	204	208					6																	27100394		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100394G>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.136C>A	6.37:g.27100394G>T	ENSP00000476136:p.Leu46Met					HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M	p.L46M			P06899	H2B1J_HUMAN			1	135	-			46					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.136C>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989555	0.35131	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70516	-0.49;-0.49	4.17	2.38	0.29361	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.79112	0.4391	M	0.92219	3.285	0.42303	D	0.992184	P	0.49783	0.928	P	0.59761	0.863	T	0.80948	-0.1154	9	0.72032	D	0.01	.	8.9091	0.35541	0.1917:0.0:0.8083:0.0	.	46	P06899	H2B1J_HUMAN	M	46	ENSP00000445633:L46M;ENSP00000342886:L46M	ENSP00000342886:L46M	L	-	1	2	HIST1H2BJ	27208373	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	1.451000	0.35145	0.506000	0.28125	-0.914000	0.02751	CTG		0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		190	973	1	0	1.59857e-72	1	2.0336e-72	190	973					T	27100394	G	T	27100394	3	4	79	1	0	0	0	0	1	0	0	0	7179	933	33	3	248	3	HIST1H2BJ	6	27100394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593354	27100394	144014673	7103	17420											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115260	27115260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaggccgtgctgctgcCtaagaagactgagagccacc	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27115260C>T	ENST00000377459.1	+	1	400	c.353C>T	c.(352-354)cCt>cTt	p.P118L	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	118						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCTGCTGCCTAAGAAGACT	0.522																																						ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(352-354)cCt>cTt		histone cluster 1, H2ah							65	67	67					6																	27115260		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115260C>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.353C>T	6.37:g.27115260C>T	ENSP00000366679:p.Pro118Leu						p.P118L	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	400	+			118						Missense_Mutation	SNP	ENST00000377459.1	37	c.353C>T	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366702	0.61513	.	.	ENSG00000184825	ENST00000377459	D	0.90900	-2.75	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (2);	0.000000	0.40554	N	0.001071	D	0.91300	0.7257	M	0.76170	2.325	0.58432	D	0.999992	D	0.63880	0.993	P	0.52856	0.711	D	0.92532	0.6034	10	0.87932	D	0	.	14.5447	0.68020	0.0:1.0:0.0:0.0	.	118	Q96KK5	H2A1H_HUMAN	L	118	ENSP00000366679:P118L	ENSP00000366679:P118L	P	+	2	0	HIST1H2AH	27223239	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.193000	0.77780	2.201000	0.70794	0.655000	0.94253	CCT		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		11	458	0	0	0	1	0	11	458					T	27115260	C	T	27115260	3	4	79	1	0	0	0	0	1	0	0	0	7164	681	24	2	355	2	HIST1H2AH	6	27115260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14866	27115260	143999807	7104	17421											
PRSS16	10279	broad.mit.edu	37	chr6	27218821	27218821	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggcgtctcctcccttagTtcccccatctcattttcgcg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	198					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e6-1		protease, serine, 16 (thymus)							64	71	69					6																	27218821		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27218821T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.592-1T>C	6.37:g.27218821T>C						PRSS16_ENST00000421826.2_Intron	p.F198_splice	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			6	607	+			198					O75416	Splice_Site	SNP	ENST00000230582.3	37	c.591_splice	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.343518|4.343518	0.82022|0.82022	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.16897|.	2.31|.	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	0.163731|.	0.53938|.	D|.	0.000042|.	T|T	0.71005|0.71005	0.3289|0.3289	M|M	0.88979|0.88979	2.995|2.995	0.47862|0.47862	D|D	0.999538|0.999538	D;P|.	0.57257|.	0.979;0.587|.	D;B|.	0.71414|.	0.973;0.333|.	T|T	0.75714|0.75714	-0.3221|-0.3221	9|5	.|.	.|.	.|.	-12.8934|-12.8934	9.3482|9.3482	0.38122|0.38122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;198|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	L|A	198|89	ENSP00000230582:F198L|.	.|.	F|V	+|+	1|2	0|0	PRSS16|PRSS16	27326800|27326800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	1.194000|1.194000	0.32174|0.32174	1.987000|1.987000	0.57996|0.57996	0.460000|0.460000	0.39030|0.39030	TTC|GTT		0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Missense_Mutation	88	482	0	0	0	1	0	88	482					C	27218821	T	C	27218821	5	2	79	1	0	0	0	0	0	0	1	0	12663	1739	60	4	614	4	PRSS16	6	27218821	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103561	27218821	143896246	7105	17422											
PRSS16	10279	broad.mit.edu	37	chr6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcttgcgggcccctgGgccgcgctgaaaaccaggcg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	276					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(826-828)Ggc>Tgc		protease, serine, 16 (thymus)							16	21	20					6																	27219637		2184	4284	6468	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219637G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.826G>T	6.37:g.27219637G>T	ENSP00000230582:p.Gly276Cys					PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	p.G276C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			8	841	+			276					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.826G>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000112812	ENST00000230582	T	0.14640	2.49	3.72	0.425	0.16473	.	0.632610	0.15930	N	0.237713	T	0.04724	0.0128	L	0.39898	1.24	0.09310	N	1	P	0.43542	0.81	P	0.46362	0.514	T	0.25882	-1.0119	10	0.56958	D	0.05	0.5666	2.8425	0.05534	0.284:0.0:0.5066:0.2094	.	276	Q9NQE7	TSSP_HUMAN	C	276	ENSP00000230582:G276C	ENSP00000230582:G276C	G	+	1	0	PRSS16	27327616	0.061000	0.20836	0.006000	0.13384	0.040000	0.13550	0.408000	0.21065	-0.048000	0.13401	-0.244000	0.11960	GGC		0.701	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			51	218	1	0	8.72198e-27	1	1.00714e-26	51	218					T	27219637	G	T	27219637	3	4	79	1	0	0	0	0	1	0	0	0	12663	1232	43	3	856	3	PRSS16	6	27219637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	816	27219637	143895430	7106	17423											
PRSS16	10279	broad.mit.edu	37	chr6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgtgcgacagctctgcgGacttctcctcgggggcgggg	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	313					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(937-939)gGa>gAa		protease, serine, 16 (thymus)							8	9	9					6																	27219749		2174	4266	6440	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219749G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.938G>A	6.37:g.27219749G>A	ENSP00000230582:p.Gly313Glu					PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	p.G313E	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			8	953	+			313					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.938G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661647	0.47572	.	.	ENSG00000112812	ENST00000230582	T	0.12774	2.65	3.18	3.18	0.36537	.	0.841051	0.10596	N	0.656227	T	0.03178	0.0093	L	0.29908	0.895	0.35506	D	0.800225	B	0.19445	0.036	B	0.18871	0.023	T	0.26258	-1.0108	10	0.07644	T	0.81	-0.0554	10.0977	0.42486	0.0:0.0:1.0:0.0	.	313	Q9NQE7	TSSP_HUMAN	E	313	ENSP00000230582:G313E	ENSP00000230582:G313E	G	+	2	0	PRSS16	27327728	0.995000	0.38212	0.776000	0.31678	0.930000	0.56654	2.556000	0.45862	2.067000	0.61834	0.563000	0.77884	GGA		0.687	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			19	62	0	0	0	1	0	19	62					A	27219749	G	A	27219749	3	1	79	1	0	0	0	0	1	0	0	0	12663	1174	41	2	968	2	PRSS16	6	27219749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	27219749	143895318	7107	17424											
PRSS16	10279	broad.mit.edu	37	chr6	27222471	27222471	+	Splice_Site	SNP	G	G	T													tacaggtatctccctacacaGatgtcacctgtgagaatccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)						protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTG	0.502																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e10-1		protease, serine, 16 (thymus)							115	108	110					6																	27222471		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222471G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1G>T	6.37:g.27222471G>T						PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron		NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1165	+								O75416	Splice_Site	SNP	ENST00000230582.3	37		CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378242	0.61735	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000485993;ENST00000475106	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.307	0.60357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS16	27330450	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.274000	0.58921	2.607000	0.88179	0.557000	0.71058	.		0.502	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Intron	95	514	1	0	4.22592e-57	1	5.29123e-57	95	514					T	27222471	G	T	27222471	5	4	79	1	0	0	0	0	0	0	1	0	12663	956	33	3	1188	3	PRSS16	6	27222471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2722	27222471	143892596	7108	17425	106	2									
PRSS16	10279	broad.mit.edu	37	chr6	27222472	27222472	+	Splice_Site	SNP	A	A	G													acaggtatctccctacacagAtgtcacctgtgagaatccca					rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.Y127C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	384					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTACACAGATGTCACCTGT	0.498																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e10-1		protease, serine, 16 (thymus)							115	108	111					6																	27222472		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222472A>G	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1A>G	6.37:g.27222472A>G						PRSS16_ENST00000421826.2_Splice_Site_p.Y127_splice|PRSS16_ENST00000377456.2_Intron	p.Y384_splice	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1166	+			384					O75416	Splice_Site	SNP	ENST00000230582.3	37	c.1150_splice	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	A	4.065	0.009916	0.07912	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.17854	2.25;2.25	4.68	4.68	0.58851	.	0.253691	0.41097	D	0.000956	T	0.19967	0.0480	M	0.78285	2.405	0.48452	D	0.999651	D;P	0.53745	0.962;0.654	P;B	0.51701	0.677;0.24	T	0.01512	-1.1336	10	0.40728	T	0.16	.	10.7158	0.46011	1.0:0.0:0.0:0.0	.	127;384	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	C	127;384	ENSP00000404349:Y127C;ENSP00000230582:Y384C	ENSP00000230582:Y384C	Y	+	2	0	PRSS16	27330451	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.570000	0.45981	2.106000	0.64143	0.455000	0.32223	TAT		0.498	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Missense_Mutation	93	518	0	0	0	1	0	93	518					G	27222472	A	G	27222472	5	3	79	1	0	0	0	0	0	0	1	0	12663	347	12	4	1189	4	PRSS16	6	27222472	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	27222472	143892595	7109	17426	106	2									
PRSS16	10279	broad.mit.edu	37	chr6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactacggtggccagacccCtggggctaacaaagtgctgt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1300-1302)cCt>cTt		protease, serine, 16 (thymus)							95	90	91					6																	27222622		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222622C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1301C>T	6.37:g.27222622C>T	ENSP00000230582:p.Pro434Leu					PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L|PRSS16_ENST00000377456.2_Intron	p.P434L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1316	+			434					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1301C>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004151	0.35320	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14022	2.54;2.54	4.5	3.63	0.41609	.	0.370207	0.29321	N	0.012485	T	0.09642	0.0237	L	0.56396	1.775	0.24316	N	0.995068	P;D	0.52996	0.906;0.957	P;P	0.56563	0.801;0.705	T	0.09100	-1.0690	10	0.11485	T	0.65	-18.6148	8.5839	0.33646	0.0:0.8941:0.0:0.1059	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	177;434	ENSP00000404349:P177L;ENSP00000230582:P434L	ENSP00000230582:P434L	P	+	2	0	PRSS16	27330601	0.831000	0.29352	0.043000	0.18650	0.185000	0.23345	1.361000	0.34136	1.260000	0.44134	0.557000	0.71058	CCT		0.557	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			113	517	0	0	0	1	0	113	517					T	27222622	C	T	27222622	3	4	79	1	0	0	0	0	1	0	0	0	12663	681	24	2	1339	2	PRSS16	6	27222622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	27222622	143892445	7110	17427											
ZNF184	7738	broad.mit.edu	37	chr6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtttgttgagagcagagcGatatctgaaggattttccac	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(2212-2214)Cgc>Tgc		zinc finger protein 184							155	153	154					6																	27419126		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419126G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2212C>T	6.37:g.27419126G>A	ENSP00000211936:p.Arg738Cys					ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2496	-			738					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.2212C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840953	0.32513	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	5.18	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393509	0.19849	N	0.104669	T	0.24198	0.0586	L	0.60904	1.88	0.09310	N	1	B	0.25719	0.132	B	0.14578	0.011	T	0.02698	-1.1122	10	0.35671	T	0.21	.	10.0024	0.41938	0.0:0.0:0.7844:0.2156	.	738	Q99676	ZN184_HUMAN	C	738;738;654	ENSP00000211936:R738C;ENSP00000366636:R738C	ENSP00000211936:R738C	R	-	1	0	ZNF184	27527105	0.000000	0.05858	0.398000	0.26321	0.956000	0.61745	0.775000	0.26689	2.696000	0.92011	0.591000	0.81541	CGC		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		119	586	0	0	0	1	0	119	586					A	27419126	G	A	27419126	3	1	79	1	0	0	0	0	1	0	0	0	17804	1058	37	1	47	1	ZNF184	6	27419126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196504	27419126	143695941	7111	17428											
ZNF184	7738	broad.mit.edu	37	chr6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgagttttctgatgcTgattaaggtttgagagataa	12	2	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGATGCTGATTAAGGTT	0.383																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1555-1557)cAg>cGg		zinc finger protein 184							74	74	74					6																	27419782		2203	4299	6502	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419782T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1556A>G	6.37:g.27419782T>C	ENSP00000211936:p.Gln519Arg					ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1840	-			519					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1556A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	7.067	0.567513	0.13560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07688	3.17;3.17	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	T	0.01254	0.0041	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.48445	-0.9035	10	0.15952	T	0.53	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	519	Q99676	ZN184_HUMAN	R	519	ENSP00000211936:Q519R;ENSP00000366636:Q519R	ENSP00000211936:Q519R	Q	-	2	0	ZNF184	27527761	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.950000	0.01530	2.176000	0.68965	0.482000	0.46254	CAG		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		52	274	0	0	0	1	0	52	274					C	27419782	T	C	27419782	3	2	79	1	0	0	0	0	1	0	0	0	17804	1580	55	4	703	4	ZNF184	6	27419782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	656	27419782	143695285	7112	17429											
ZNF184	7738	broad.mit.edu	37	chr6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgaaggcctttccacaTtcattacatttataggtttt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTTTCCACATTCATTACATT	0.378																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1180-1182)gaA>gaC		zinc finger protein 184							55	57	56					6																	27420156		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420156T>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1182A>C	6.37:g.27420156T>G	ENSP00000211936:p.Glu394Asp					ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1466	-			394					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1182A>C	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820190	0.50633	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18338	2.22;2.22	5.26	0.0295	0.14163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000104	T	0.03783	0.0107	L	0.39326	1.205	0.25791	N	0.984612	B	0.19200	0.034	B	0.20767	0.031	T	0.36212	-0.9757	10	0.40728	T	0.16	.	4.1982	0.10453	0.1421:0.2472:0.0:0.6107	.	394	Q99676	ZN184_HUMAN	D	394	ENSP00000211936:E394D;ENSP00000366636:E394D	ENSP00000211936:E394D	E	-	3	2	ZNF184	27528135	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-3.957000	0.00325	0.150000	0.19136	0.528000	0.53228	GAA		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		60	224	0	0	0	1	0	60	224					G	27420156	T	G	27420156	3	3	79	1	0	0	0	0	1	0	0	0	17804	1490	52	4	1077	4	ZNF184	6	27420156	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	374	27420156	143694911	7113	17430											
ZNF184	7738	broad.mit.edu	37	chr6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgtgttctctgatggCgaataagagctgaacaataa	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCTGATGGCGAATAAGAGC	0.353																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(715-717)cGc>cAc		zinc finger protein 184							140	143	142					6																	27420622		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420622C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.716G>A	6.37:g.27420622C>T	ENSP00000211936:p.Arg239His					ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1000	-			239					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.716G>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	7.985	0.751986	0.15778	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26810	1.71;1.71	5.12	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135982	0.34580	N	0.003854	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	P	0.36660	0.564	B	0.22152	0.038	T	0.23440	-1.0188	10	0.14252	T	0.57	.	3.5921	0.07993	0.163:0.433:0.3152:0.0888	.	239	Q99676	ZN184_HUMAN	H	239	ENSP00000211936:R239H;ENSP00000366636:R239H	ENSP00000211936:R239H	R	-	2	0	ZNF184	27528601	0.000000	0.05858	0.999000	0.59377	0.021000	0.10359	-1.898000	0.01602	1.366000	0.46076	-0.315000	0.08773	CGC		0.353	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		170	718	0	0	0	1	0	170	718					T	27420622	C	T	27420622	3	4	79	1	0	0	0	0	1	0	0	0	17804	768	27	1	1543	1	ZNF184	6	27420622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	27420622	143694445	7114	17431											
ZNF184	7738	broad.mit.edu	37	chr6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatctctctggccagggTccagctgtttccattcttcc	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGCCAGGGTCCAGCTGTTT	0.413																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(136-138)gAc>gGc		zinc finger protein 184							125	123	124					6																	27425127		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27425127T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.137A>G	6.37:g.27425127T>C	ENSP00000211936:p.Asp46Gly					ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			4	421	-			46			KRAB.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.137A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044500	0.55110	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.02606	4.23;4.23	4.69	3.5	0.40072	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.01627	0.0052	M	0.62209	1.925	0.37121	D	0.900818	B	0.15141	0.012	B	0.20577	0.03	T	0.34279	-0.9835	10	0.37606	T	0.19	.	9.0704	0.36488	0.1703:0.0:0.0:0.8297	.	46	Q99676	ZN184_HUMAN	G	46	ENSP00000211936:D46G;ENSP00000366636:D46G	ENSP00000211936:D46G	D	-	2	0	ZNF184	27533106	0.981000	0.34729	0.984000	0.44739	0.993000	0.82548	2.128000	0.42045	1.079000	0.41038	0.533000	0.62120	GAC		0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		110	428	0	0	0	1	0	110	428					C	27425127	T	C	27425127	3	2	79	1	0	0	0	0	1	0	0	0	17804	1667	58	4	2130	4	ZNF184	6	27425127	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4505	27425127	143689940	7115	17432											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaaggagccagaagcaCcagtgcccttggtctgcacc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	103	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(307-309)gGt>gAt		histone cluster 1, H1b							120	133	128					6																	27835000		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835000C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.308G>A	6.37:g.27835000C>T	ENSP00000330074:p.Gly103Asp						p.G103D	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	359	-			103			H15.		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.308G>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759127	0.89843	.	.	ENSG00000184357	ENST00000331442	T	0.74106	-0.81	5.3	5.3	0.74995	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	-16.8992	18.3308	0.90268	0.0:1.0:0.0:0.0	.	103	P16401	H15_HUMAN	D	103	ENSP00000330074:G103D	ENSP00000330074:G103D	G	-	2	0	HIST1H1B	27942979	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	4.681000	0.61663	2.648000	0.89879	0.563000	0.77884	GGT		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		185	951	0	0	0	1	0	185	951					T	27835000	C	T	27835000	3	4	79	1	0	0	0	0	1	0	0	0	7153	507	18	2	376	2	HIST1H1B	6	27835000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409873	27835000	143280067	7116	17433											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagctctggaaacgaaggtCggttttgaaatcctgcgcga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(244-246)Gac>Aac		histone cluster 1, H3j							58	59	58					6																	27858327		2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858327C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.244G>A	6.37:g.27858327C>T	ENSP00000352252:p.Asp82Asn						p.D82N	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	243	-			82					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.244G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802455	0.50315	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	3.96	3.96	0.45880	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	T	0.62473	-0.6847	6	0.87932	D	0	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000352252:D82N	ENSP00000352252:D82N	D	-	1	0	HIST1H3J	27966306	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.304000	0.78882	2.503000	0.84419	0.655000	0.94253	GAC		0.562	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		41	347	0	0	0	1	0	41	347					T	27858327	C	T	27858327	3	4	79	1	0	0	0	0	1	0	0	0	7194	884	31	1	170	1	HIST1H3J	6	27858327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23327	27858327	143256740	7117	17434											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgcggtgccttgccgCcggtagacttgcgagctgtc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000359303.2	-	1	37	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	13					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(37-39)gGc>gAc		histone cluster 1, H3j							30	33	32					6																	27858533		2192	4287	6479	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858533C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.38G>A	6.37:g.27858533C>T	ENSP00000352252:p.Gly13Asp					HIST1H3J_ENST00000479986.1_5'UTR	p.G13D	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	37	-			13					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.38G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141759	0.37825	.	.	ENSG00000197153	ENST00000359303	T	0.46063	0.88	4.06	4.06	0.47325	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.56080	-0.8038	6	0.66056	D	0.02	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	D	13	ENSP00000352252:G13D	ENSP00000352252:G13D	G	-	2	0	HIST1H3J	27966512	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.290000	0.78711	2.560000	0.86352	0.655000	0.94253	GGC		0.597	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		36	303	0	0	0	1	0	36	303					T	27858533	C	T	27858533	3	4	79	1	0	0	0	0	1	0	0	0	7194	739	26	2	376	2	HIST1H3J	6	27858533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	27858533	143256534	7118	17435											
OR2B2	81697	broad.mit.edu	37	chr6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttatttcttgattaagaaGactctttgcaaccaaccttt	4	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(925-927)Ctt>Att		olfactory receptor, family 2, subfamily B, member 2							82	83	83					6																	27879173		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879173G>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.925C>A	6.37:g.27879173G>T	ENSP00000304419:p.Leu309Ile						p.L309I	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	1001	-			309					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.925C>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231361	0.09969	.	.	ENSG00000168131	ENST00000303324	T	0.38240	1.15	3.18	1.2	0.21068	.	0.886778	0.09250	N	0.827978	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.22706	T	0.39	.	4.9859	0.14189	0.325:0.0:0.675:0.0	.	309	Q9GZK3	OR2B2_HUMAN	I	309	ENSP00000304419:L309I	ENSP00000304419:L309I	L	-	1	0	OR2B2	27987152	0.017000	0.18338	0.012000	0.15200	0.134000	0.20937	-0.115000	0.10741	0.285000	0.22329	0.313000	0.20887	CTT		0.363	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			61	281	1	0	1.27862e-28	1	1.48942e-28	61	281					T	27879173	G	T	27879173	3	4	79	1	0	0	0	0	1	0	0	0	11031	942	33	3	152	3	OR2B2	6	27879173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20640	27879173	143235894	7119	17436											
OR2B2	81697	broad.mit.edu	37	chr6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttcctggtgttgcataTgtttaccagcatttgtggaa	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(253-255)Ata>Gta		olfactory receptor, family 2, subfamily B, member 2							166	142	150					6																	27879845		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879845T>C	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.253A>G	6.37:g.27879845T>C	ENSP00000304419:p.Ile85Val						p.I85V	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	329	-			85					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.253A>G	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160103	0.06502	.	.	ENSG00000168131	ENST00000303324	T	0.00392	7.58	4.52	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.173808	0.26485	U	0.024112	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	B	0.28378	0.209	B	0.26770	0.073	T	0.40961	-0.9535	10	0.87932	D	0	.	5.3596	0.16081	0.1691:0.0:0.3501:0.4808	.	85	Q9GZK3	OR2B2_HUMAN	V	85	ENSP00000304419:I85V	ENSP00000304419:I85V	I	-	1	0	OR2B2	27987824	0.000000	0.05858	0.262000	0.24481	0.015000	0.08874	-2.156000	0.01283	0.821000	0.34540	-0.374000	0.07098	ATA		0.453	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			62	270	0	0	0	1	0	62	270					C	27879845	T	C	27879845	3	2	79	1	0	0	0	0	1	0	0	0	11031	1464	51	4	824	4	OR2B2	6	27879845	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	672	27879845	143235222	7120	17437											
OR2B6	26212	broad.mit.edu	37	chr6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgccactctgtgaccCctatgtgatagatcactttc	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(511-513)cCc>cTc		olfactory receptor, family 2, subfamily B, member 6							139	142	141					6																	27925530		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925530C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.512C>T	6.37:g.27925530C>T	ENSP00000244623:p.Pro171Leu						p.P171L	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	512	+			171					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.512C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.560	0.471641	0.12461	.	.	ENSG00000124657	ENST00000244623	T	0.38077	1.16	3.55	-0.147	0.13428	GPCR, rhodopsin-like superfamily (1);	1.407500	0.05586	U	0.573708	T	0.16599	0.0399	L	0.49256	1.55	0.09310	N	1	B	0.24317	0.101	B	0.32022	0.139	T	0.46652	-0.9176	10	0.56958	D	0.05	.	6.294	0.21075	0.4238:0.429:0.1471:0.0	.	171	P58173	OR2B6_HUMAN	L	171	ENSP00000244623:P171L	ENSP00000244623:P171L	P	+	2	0	OR2B6	28033509	0.000000	0.05858	0.105000	0.21289	0.254000	0.26022	-2.067000	0.01383	0.153000	0.19213	0.467000	0.42956	CCC		0.488	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			95	594	0	0	0	1	0	95	594					T	27925530	C	T	27925530	3	4	79	1	0	0	0	0	1	0	0	0	11033	623	22	2	514	2	OR2B6	6	27925530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45685	27925530	143189537	7121	17438											
ZNF165	7718	broad.mit.edu	37	chr6	28053579	28053579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaggagatttgcaggcCtgggtacatgaacattaccc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(319-321)gcC>gcA		zinc finger protein 165							62	62	62					6																	28053579		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053579C>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.321C>A	6.37:g.28053579C>A							p.A107A	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			2	877	+			107			SCAN box.			Silent	SNP	ENST00000377325.1	37	c.321C>A	CCDS4643.1																																																																																				0.527	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		55	223	1	0	1.51943e-15	1	1.66198e-15	55	223					A	28053579	C	A	28053579	2	1	79	1	0	0	0	0	0	0	0	1	17793	668	24	3		3	ZNF165	6	28053579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128049	28053579	143061488	7122	17439											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagggaactctatagaCaacacttcaggaagctctgc	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(124-126)Caa>Taa		zinc finger and SCAN domain containing 16							218	222	221					6																	28093345		2203	4300	6503	SO:0001587	stop_gained	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093345C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.124C>T	6.37:g.28093345C>T	ENSP00000366527:p.Gln42*					RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.Q42*	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	273	+			42			SCAN box.		Q9H6K2	Nonsense_Mutation	SNP	ENST00000340487.4	37	c.124C>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550547	0.45383	.	.	ENSG00000196812	ENST00000340487	.	.	.	3.66	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.7442	0.40437	0.3728:0.6272:0.0:0.0	.	.	.	.	X	42	.	ENSP00000366527:Q42X	Q	+	1	0	ZSCAN16	28201324	0.006000	0.16342	0.212000	0.23672	0.281000	0.26958	1.399000	0.34566	0.828000	0.34709	0.557000	0.71058	CAA		0.527	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		215	1165	0	0	0	1	0	215	1165					T	28093345	C	T	28093345	4	4	79	1	0	0	0	0	0	1	0	0	18282	479	17	2	126	2	ZSCAN16	6	28093345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39766	28093345	143021722	7123	17440											
ZNF192	7745	broad.mit.edu	37	chr6	28117327	28117327	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacattcagcatctgcaccaGagcctccaaatactcagctc	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28117327G>T	ENST00000330236.6	+	3	668	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E162*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	162					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)										ATCTGCACCAGAGCCTCCAAA	0.478																																						ENST00000330236.6																			0											c.(484-486)Gag>Tag		zinc finger with KRAB and SCAN domains 8							146	131	136					6																	28117327		2203	4300	6503	SO:0001587	stop_gained	0							g.chr6:28117327G>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.484G>T	6.37:g.28117327G>T	ENSP00000332750:p.Glu162*					ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E162*	p.E162*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					3	668	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	ENST00000330236.6	37	c.484G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680980	0.96774	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	4.27	3.4	0.38934	.	0.276731	0.25464	N	0.030496	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.2943	0.26385	0.2095:0.0:0.7905:0.0	.	.	.	.	X	162	.	ENSP00000332750:E162X	E	+	1	0	ZNF192	28225306	0.004000	0.15560	0.335000	0.25508	0.933000	0.57130	0.669000	0.25142	1.113000	0.41760	0.563000	0.77884	GAG		0.478	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			68	322	1	0	1.50372e-20	1	1.68596e-20	68	322					T	28117327	G	T	28117327	4	4	79	1	0	0	0	0	0	1	0	0	17809	943	33	3	490	3	ZNF192	6	28117327	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23982	28117327	142997740	7124	17441											
ZNF192	7745	broad.mit.edu	37	chr6	28120057	28120057	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactttggagaagattgaaGacatggctgtgtcccttatt	11	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28120057G>T	ENST00000330236.6	+	5	854	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.D224Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	224	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										GAAGATTGAAGACATGGCTGT	0.443																																						ENST00000330236.6																			0											c.(670-672)Gac>Tac		zinc finger with KRAB and SCAN domains 8							134	134	134					6																	28120057		2203	4300	6503	SO:0001583	missense	0							g.chr6:28120057G>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.670G>T	6.37:g.28120057G>T	ENSP00000332750:p.Asp224Tyr					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.D224Y	p.D224Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					5	854	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.670G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180298	0.78677	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.12039	2.72;2.72	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.64402	D	0.000011	T	0.49541	0.1563	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67154	-0.5742	10	0.72032	D	0.01	.	18.644	0.91405	0.0:0.0:1.0:0.0	.	224	Q15776	ZN192_HUMAN	Y	224	ENSP00000332750:D224Y;ENSP00000402948:D224Y	ENSP00000332750:D224Y	D	+	1	0	ZNF192	28228036	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.218000	0.72224	2.873000	0.98535	0.563000	0.77884	GAC		0.443	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			51	433	1	0	2.0833e-19	1	2.32388e-19	51	433					T	28120057	G	T	28120057	3	4	79	1	0	0	0	0	1	0	0	0	17809	942	33	3	684	3	ZNF192	6	28120057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2730	28120057	142995010	7125	17442											
ZNF193	7746	broad.mit.edu	37	chr6	28195016	28195016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcaagggaaatcttcCgaaggcactttcgacagctg	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195016C>T	ENST00000252207.5	+	2	302	c.154C>T	c.(154-156)Cga>Tga	p.R52*	ZSCAN9_ENST00000531981.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000531979.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000527436.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000425468.2_Nonsense_Mutation_p.R52*	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGAAATCTTCCGAAGGCACTT	0.498																																						ENST00000527436.1																			0											c.(154-156)Cga>Tga		zinc finger and SCAN domain containing 9							75	69	71					6																	28195016		2203	4300	6503	SO:0001587	stop_gained	7746							g.chr6:28195016C>T	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.154C>T	6.37:g.28195016C>T	ENSP00000252207:p.Arg52*					ZSCAN9_ENST00000531979.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000425468.2_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000252207.5_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000531981.1_Nonsense_Mutation_p.R52*	p.R52*							2	255	+								B4E1W6|E7EVQ2|Q2TTR1	Nonsense_Mutation	SNP	ENST00000252207.5	37	c.154C>T	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563399	0.65651	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	.	.	.	3.07	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2508	0.15521	0.0:0.7216:0.0:0.2784	.	.	.	.	X	52	.	ENSP00000252207:R52X	R	+	1	2	ZNF193	28302995	0.261000	0.24063	0.450000	0.26969	0.958000	0.62258	0.665000	0.25083	0.323000	0.23307	-0.258000	0.10820	CGA		0.498	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		47	234	0	0	0	1	0	47	234					T	28195016	C	T	28195016	4	4	79	1	0	0	0	0	0	1	0	0	17810	644	23	1	156	1	ZNF193	6	28195016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74959	28195016	142920051	7126	17443											
ZNF193	7746	broad.mit.edu	37	chr6	28195209	28195209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggtgagggaacactGtccagagagtggagaagagg	20	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195209G>A	ENST00000252207.5	+	2	495	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C116Y	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	116	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGAACACTGTCCAGAGAGT	0.512																																						ENST00000527436.1																			0											c.(346-348)tGt>tAt		zinc finger and SCAN domain containing 9							54	54	54					6																	28195209		2203	4300	6503	SO:0001583	missense	7746							g.chr6:28195209G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.347G>A	6.37:g.28195209G>A	ENSP00000252207:p.Cys116Tyr					ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C116Y	p.C116Y							2	448	+								B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.347G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777906	0.31502	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.39	-0.428	0.12306	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01940	0.0061	L	0.39326	1.205	0.09310	N	1	P;D	0.53619	0.936;0.961	P;P	0.51079	0.658;0.561	T	0.14811	-1.0459	9	0.05620	T	0.96	.	6.0202	0.19625	0.508:0.0:0.492:0.0	.	116;116	E7EVQ2;O15535	.;ZN193_HUMAN	Y	116	ENSP00000404074:C116Y;ENSP00000252207:C116Y;ENSP00000433402:C116Y;ENSP00000433468:C116Y;ENSP00000436166:C116Y	ENSP00000252207:C116Y	C	+	2	0	ZNF193	28303188	0.000000	0.05858	0.011000	0.14972	0.927000	0.56198	-0.174000	0.09839	-0.114000	0.11936	0.561000	0.74099	TGT		0.512	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		36	188	0	0	0	1	0	36	188					A	28195209	G	A	28195209	3	1	79	1	0	0	0	0	1	0	0	0	17810	1377	48	2	349	2	ZNF193	6	28195209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193	28195209	142919858	7127	17444											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcattacatttataagacAcgggagcctcagtattttcc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	485					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1453-1455)gTg>gCg		zinc finger with KRAB and SCAN domains 4							121	126	124					6																	28213078		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213078A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1454T>C	6.37:g.28213078A>G	ENSP00000366509:p.Val485Ala					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	p.V485A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1697	-			485					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1454T>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698511	0.15106	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05649	3.51;3.41	5.06	-2.27	0.06846	.	.	.	.	.	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B	0.27791	0.189	B	0.25140	0.058	T	0.47005	-0.9150	9	0.87932	D	0	.	3.3464	0.07137	0.3562:0.0:0.1784:0.4654	.	485	Q969J2	ZKSC4_HUMAN	A	485;330	ENSP00000366509:V485A;ENSP00000401978:V330A	ENSP00000366509:V485A	V	-	2	0	ZKSCAN4	28321057	0.992000	0.36948	0.001000	0.08648	0.168000	0.22595	-0.265000	0.08644	-0.124000	0.11724	-0.250000	0.11733	GTG		0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		61	550	0	0	0	1	0	61	550					G	28213078	A	G	28213078	3	3	79	1	0	0	0	0	1	0	0	0	17742	159	6	4	187	4	ZKSCAN4	6	28213078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17869	28213078	142901989	7128	17445											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctccccagtatgaaTtttgtgatgttcaaggaggc	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	425					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1273-1275)Att>Gtt		zinc finger with KRAB and SCAN domains 4							77	78	78					6																	28213259		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213259T>C	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1273A>G	6.37:g.28213259T>C	ENSP00000366509:p.Ile425Val					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	p.I425V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1516	-			425					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1273A>G	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763298	0.69763	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.00986	5.47;5.47	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.33137	0.985	0.25935	N	0.982941	D	0.63880	0.993	D	0.76071	0.987	T	0.56860	-0.7909	9	0.49607	T	0.09	.	14.9164	0.70801	0.0:0.0:0.0:1.0	.	425	Q969J2	ZKSC4_HUMAN	V	425;270;131;301	ENSP00000366509:I425V;ENSP00000401978:I270V	ENSP00000349249:I301V	I	-	1	0	ZKSCAN4	28321238	0.001000	0.12720	1.000000	0.80357	0.856000	0.48823	1.094000	0.30951	2.212000	0.71576	0.533000	0.62120	ATT		0.473	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		93	342	0	0	0	1	0	93	342					C	28213259	T	C	28213259	3	2	79	1	0	0	0	0	1	0	0	0	17742	1493	52	4	368	4	ZKSCAN4	6	28213259	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181	28213259	142901808	7129	17446											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattcatagggtttctcaCcagtgtggattctcctgtgt	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	344					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1030-1032)gGt>gAt		zinc finger with KRAB and SCAN domains 4							123	111	115					6																	28213501		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213501C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1031G>A	6.37:g.28213501C>T	ENSP00000366509:p.Gly344Asp					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	p.G344D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1274	-			344					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1031G>A	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958964	0.74016	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.01599	4.74;4.74	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.73753	2.245	0.49915	D	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	17.6454	0.88147	0.0:1.0:0.0:0.0	.	344	Q969J2	ZKSC4_HUMAN	D	344;189;50;220	ENSP00000366509:G344D;ENSP00000401978:G189D	ENSP00000349249:G220D	G	-	2	0	ZKSCAN4	28321480	0.969000	0.33509	0.438000	0.26821	0.499000	0.33736	4.030000	0.57260	2.522000	0.85027	0.655000	0.94253	GGT		0.458	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		79	317	0	0	0	1	0	79	317					T	28213501	C	T	28213501	3	4	79	1	0	0	0	0	1	0	0	0	17742	507	18	2	610	2	ZKSCAN4	6	28213501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	28213501	142901566	7130	17447											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28219397	28219397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcaccaccacctcctccCcgctctctggatgctgctcc	6	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	ENST00000377294.2	-	1	605	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACCTCCTCCCCGCTCTCTGG	0.597																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(361-363)gGg>gTg		zinc finger with KRAB and SCAN domains 4							27	30	29					6																	28219397		2202	4278	6480	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219397C>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.362G>T	6.37:g.28219397C>A	ENSP00000366509:p.Gly121Val					ZKSCAN4_ENST00000423974.2_Intron	p.G121V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			1	605	-			121			SCAN box.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.362G>T	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477769	0.84640	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.05025	3.51	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.23451	0.0567	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08330	-1.0727	9	0.62326	D	0.03	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	121	Q969J2	ZKSC4_HUMAN	V	121;69	ENSP00000366509:G121V	ENSP00000349249:G69V	G	-	2	0	ZKSCAN4	28327376	0.940000	0.31905	1.000000	0.80357	0.981000	0.71138	2.649000	0.46656	2.388000	0.81334	0.655000	0.94253	GGG		0.597	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		59	205	1	0	2.94884e-30	1	3.45738e-30	59	205					A	28219397	C	A	28219397	3	1	79	1	0	0	0	0	1	0	0	0	17742	623	22	3	1295	3	ZKSCAN4	6	28219397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5896	28219397	142895670	7131	17448											
NKAPL	222698	broad.mit.edu	37	chr6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattggggaattgggagCgcctgaagtgtgggggccgt	21	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(397-399)gCg>gTg		NFKB activating protein-like							99	106	104					6																	28227547		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227547C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.398C>T	6.37:g.28227547C>T	ENSP00000345716:p.Ala133Val						p.A133V	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	450	+			133					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.398C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG		0.537	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			100	653	0	0	0	1	0	100	653					T	28227547	C	T	28227547	3	4	79	1	0	0	0	0	1	0	0	0	10482	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8150	28227547	142887520	7132	17449											
NKAPL	222698	broad.mit.edu	37	chr6	28227565	28227565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctgaagtgtgggggcCgtctccaaagttccctcagc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227565C>T	ENST00000343684.3	+	1	468	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGTGGGGGCCGTCTCCAAAG	0.532																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(415-417)cCg>cTg		NFKB activating protein-like							103	112	109					6																	28227565		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227565C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.416C>T	6.37:g.28227565C>T	ENSP00000345716:p.Pro139Leu						p.P139L	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	468	+			139					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.416C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628296	0.03610	.	.	ENSG00000189134	ENST00000343684	T	0.12147	2.71	5.1	3.86	0.44501	.	0.213702	0.41396	N	0.000888	T	0.00875	0.0029	N	0.00885	-1.115	0.30982	N	0.722431	B	0.06786	0.001	B	0.01281	0.0	T	0.47749	-0.9093	10	0.06099	T	0.92	-0.8743	7.6288	0.28228	0.0:0.0959:0.0:0.9041	.	139	Q5M9Q1	NKAPL_HUMAN	L	139	ENSP00000345716:P139L	ENSP00000345716:P139L	P	+	2	0	NKAPL	28335544	0.981000	0.34729	0.762000	0.31397	0.696000	0.40369	2.108000	0.41854	1.069000	0.40788	-0.290000	0.09829	CCG		0.532	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			120	673	0	0	0	1	0	120	673					T	28227565	C	T	28227565	3	4	79	1	0	0	0	0	1	0	0	0	10482	652	23	1	418	1	NKAPL	6	28227565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	28227565	142887502	7133	17450											
NKAPL	222698	broad.mit.edu	37	chr6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctgatgagaagagagctCttgcatcctttaaccaagaa	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	369										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGAGAGCTCTTGCATCCTT	0.443																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1105-1107)Ctt>Att		NFKB activating protein-like							154	142	146					6																	28228254		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28228254C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1105C>A	6.37:g.28228254C>A	ENSP00000345716:p.Leu369Ile						p.L369I	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	1157	+			369					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.1105C>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645815	0.87958	.	.	ENSG00000189134	ENST00000343684	T	0.23754	1.89	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33189	-0.9878	10	0.59425	D	0.04	-9.0374	15.3886	0.74723	0.0:1.0:0.0:0.0	.	369	Q5M9Q1	NKAPL_HUMAN	I	369	ENSP00000345716:L369I	ENSP00000345716:L369I	L	+	1	0	NKAPL	28336233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.563000	0.86464	0.655000	0.94253	CTT		0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			78	344	1	0	5.04879e-28	1	5.86081e-28	78	344					A	28228254	C	A	28228254	3	1	79	1	0	0	0	0	1	0	0	0	10482	913	32	3	1107	3	NKAPL	6	28228254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	689	28228254	142886813	7134	17451											
PGBD1	84547	broad.mit.edu	37	chr6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagtggatttatgaGgcatcctagaagggaaatgt	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1411-1413)aGg>aAg		piggyBac transposable element derived 1							168	166	167					6																	28269043		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269043G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1412G>A	6.37:g.28269043G>A	ENSP00000385213:p.Arg471Lys					PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1832	+			471					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1412G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757490	0.03019	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17370	2.28;2.28	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.02494	0.0076	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.46498	-0.9187	10	0.02654	T	1	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	K	471	ENSP00000385213:R471K;ENSP00000259883:R471K	ENSP00000259883:R471K	R	+	2	0	PGBD1	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			126	645	0	0	0	1	0	126	645					A	28269043	G	A	28269043	3	1	79	1	0	0	0	0	1	0	0	0	11822	1000	35	2	1434	2	PGBD1	6	28269043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40789	28269043	142846024	7135	17452											
PGBD1	84547	broad.mit.edu	37	chr6	28269797	28269797	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gataacgaagaaatccctcaGataagtcaaccatccatagt	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	722						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2164-2166)caG>caA		piggyBac transposable element derived 1							138	132	134					6																	28269797		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269797G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2166G>A	6.37:g.28269797G>A						PGBD1_ENST00000259883.3_Silent_p.Q722Q	p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2586	+			722					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.2166G>A	CCDS4648.1																																																																																				0.413	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			77	404	0	0	0	1	0	77	404					A	28269797	G	A	28269797	2	1	79	1	0	0	0	0	0	0	0	1	11822	933	33	2		2	PGBD1	6	28269797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	28269797	142845270	7136	17453											
ZNF323	64288	broad.mit.edu	37	chr6	28297300	28297300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagccggctcagagcttctCggggaccaggagtctcttgg	16	11	3	1	rs150660211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28297300C>T	ENST00000414429.1	-	6	1064	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R54Q			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	54	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGAGCTTCTCGGGGACCAGG	0.522																																						ENST00000414429.1																			0											c.(160-162)cGa>cAa		zinc finger and SCAN domain containing 31		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113	126	121		161,161,161,161	1.9	0	6	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF323	NM_001135215.1,NM_001135216.1,NM_030899.4,NM_145909.2	43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/407,54/407,54/407,54/407	28297300	1,13005	2203	4300	6503	SO:0001583	missense	64288							g.chr6:28297300C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.161G>A	6.37:g.28297300C>T	ENSP00000390076:p.Arg54Gln					ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000446474.1_Intron	p.R54Q							6	1064	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.161G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466873	0.63625	2.27E-4	0.0	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	T;T;T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	4.71	1.91	0.25777	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02649	0.0080	M	0.84773	2.715	0.09310	N	1	B	0.34226	0.443	B	0.22386	0.039	T	0.29852	-0.9998	9	0.42905	T	0.14	.	8.6922	0.34273	0.0:0.7386:0.0:0.2614	.	54	Q96LW9	ZN323_HUMAN	Q	54	ENSP00000380050:R54Q;ENSP00000413705:R54Q;ENSP00000390076:R54Q;ENSP00000345339:R54Q;ENSP00000389479:R54Q;ENSP00000412519:R54Q;ENSP00000416108:R54Q;ENSP00000406376:R54Q;ENSP00000411033:R54Q;ENSP00000416225:R54Q	ENSP00000345339:R54Q	R	-	2	0	ZNF323	28405279	0.000000	0.05858	0.005000	0.12908	0.990000	0.78478	0.023000	0.13533	0.524000	0.28502	-0.253000	0.11424	CGA		0.522	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		192	857	0	0	0	1	0	192	857					T	28297300	C	T	28297300	3	4	79	1	0	0	0	0	1	0	0	0	17896	884	31	1	1071	1	ZNF323	6	28297300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27503	28297300	142817767	7137	17454											
ZSCAN12	9753	broad.mit.edu	37	chr6	28358503	28358503	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcacacttgtagggcctctCtccagtgtggattctctgat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28358503C>T	ENST00000361028.1	-	4	1709	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	522					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TAGGGCCTCTCTCCAGTGTGG	0.493																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(1564-1566)Gag>Aag		zinc finger and SCAN domain containing 12							97	85	89					6																	28358503		692	1591	2283	SO:0001583	missense	9753							g.chr6:28358503C>T	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1564G>A	6.37:g.28358503C>T	ENSP00000354305:p.Glu522Lys					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K	p.E522K							4	1709	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.1564G>A		.	.	.	.	.	.	.	.	.	.	C	16.40	3.113579	0.56398	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.24350	1.86;1.86	3.73	2.84	0.33178	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33059	0.0850	M	0.66560	2.04	0.32789	N	0.50141	D;P	0.76494	0.999;0.953	D;P	0.81914	0.995;0.809	T	0.18555	-1.0333	9	0.62326	D	0.03	.	10.4799	0.44687	0.0:0.8984:0.0:0.1016	.	522;522	A8K187;O43309	.;ZSC12_HUMAN	K	522	ENSP00000354305:E522K;ENSP00000380039:E522K	ENSP00000354305:E522K	E	-	1	0	ZSCAN12	28466482	0.980000	0.34600	0.997000	0.53966	0.985000	0.73830	2.536000	0.45693	0.737000	0.32582	0.650000	0.86243	GAG		0.493	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		9	73	0	0	0	1	0	9	73					T	28358503	C	T	28358503	3	4	79	1	0	0	0	0	1	0	0	0	18281	922	32	2	275	2	ZSCAN12	6	28358503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61203	28358503	142756564	7138	17455											
ZSCAN12	9753	broad.mit.edu	37	chr6	28365827	28365827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctaaatcctccagcacaGtcaccacctcctccccactc	2	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28365827G>A	ENST00000361028.1	-	2	501	c.356C>T	c.(355-357)aCt>aTt	p.T119I	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGCACAGTCACCACCTC	0.522																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(355-357)aCt>aTt		zinc finger and SCAN domain containing 12							144	117	125					6																	28365827		692	1591	2283	SO:0001583	missense	9753							g.chr6:28365827G>A	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.356C>T	6.37:g.28365827G>A	ENSP00000354305:p.Thr119Ile					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I	p.T119I							2	501	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.356C>T		.	.	.	.	.	.	.	.	.	.	G	12.68	2.009819	0.35415	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.06218	3.33;3.33	3.34	1.44	0.22558	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.479877	0.15636	N	0.252140	T	0.02970	0.0088	M	0.79343	2.45	0.28367	N	0.920183	B;B	0.21606	0.058;0.058	B;B	0.20384	0.029;0.017	T	0.31364	-0.9946	10	0.72032	D	0.01	.	4.2605	0.10739	0.1251:0.0:0.6526:0.2222	.	119;119	A8K187;O43309	.;ZSC12_HUMAN	I	119	ENSP00000354305:T119I;ENSP00000380039:T119I	ENSP00000354305:T119I	T	-	2	0	ZSCAN12	28473806	0.007000	0.16637	0.984000	0.44739	0.970000	0.65996	0.515000	0.22801	0.203000	0.20529	0.655000	0.94253	ACT		0.522	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		35	204	0	0	0	1	0	35	204					A	28365827	G	A	28365827	3	1	79	1	0	0	0	0	1	0	0	0	18281	1029	36	2	1491	2	ZSCAN12	6	28365827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7324	28365827	142749240	7139	17456											
ZSCAN12	9753	broad.mit.edu	37	chr6	28366005	28366005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggctcaaagcctcacgggGaccagatgtctcctggtagc	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366005G>A	ENST00000361028.1	-	2	323	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						GCCTCACGGGGACCAGATGTC	0.542																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(178-180)Ccc>Tcc		zinc finger and SCAN domain containing 12							201	174	182					6																	28366005		692	1591	2283	SO:0001583	missense	9753							g.chr6:28366005G>A	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.178C>T	6.37:g.28366005G>A	ENSP00000354305:p.Pro60Ser					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S	p.P60S							2	323	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957364	0.73902	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07444	3.19;3.19	3.17	3.17	0.36434	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.33591	N	0.004745	T	0.34919	0.0914	H	0.99444	4.57	0.33831	D	0.630253	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.966	T	0.58284	-0.7663	10	0.66056	D	0.02	.	10.0007	0.41927	0.0:0.0:1.0:0.0	.	60;60	A8K187;O43309	.;ZSC12_HUMAN	S	60	ENSP00000354305:P60S;ENSP00000380039:P60S	ENSP00000354305:P60S	P	-	1	0	ZSCAN12	28473984	0.956000	0.32656	1.000000	0.80357	0.972000	0.66771	3.889000	0.56212	1.761000	0.52028	0.609000	0.83330	CCC		0.542	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		37	168	0	0	0	1	0	37	168					A	28366005	G	A	28366005	3	1	79	1	0	0	0	0	1	0	0	0	18281	1174	41	2	1669	2	ZSCAN12	6	28366005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	28366005	142749062	7140	17457											
ZSCAN12	9753	broad.mit.edu	37	chr6	28366051	28366051	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtctgaagtactgacggaaGacctctctgctatgggtgtt	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366051G>T	ENST00000361028.1	-	2	277	c.132C>A	c.(130-132)gtC>gtA	p.V44V	ZSCAN12_ENST00000396827.3_Silent_p.V44V			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	44					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						ACTGACGGAAGACCTCTCTGC	0.507																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(130-132)gtC>gtA		zinc finger and SCAN domain containing 12							282	242	254					6																	28366051		692	1591	2283	SO:0001819	synonymous_variant	9753							g.chr6:28366051G>T	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.132C>A	6.37:g.28366051G>T						ZSCAN12_ENST00000396827.3_Silent_p.V44V	p.V44V							2	277	-								O43724	Silent	SNP	ENST00000361028.1	37	c.132C>A																																																																																					0.507	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		22	89	1	0	7.45023e-12	1	7.97024e-12	22	89					T	28366051	G	T	28366051	2	4	79	1	0	0	0	0	0	0	0	1	18281	929	33	3		3	ZSCAN12	6	28366051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	28366051	142749016	7141	17458											
ZSCAN23	222696	broad.mit.edu	37	chr6	28403940	28403940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggttatttcttgacaggCctgattctggcccacaggaa	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28403940C>T	ENST00000289788.4	-	2	249	c.104G>A	c.(103-105)gGc>gAc	p.G35D	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	35					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						TCTTGACAGGCCTGATTCTGG	0.527																																						ENST00000289788.4																			0				breast(1)|prostate(1)|stomach(2)	4						c.(103-105)gGc>gAc		zinc finger and SCAN domain containing 23							16	16	16					6																	28403940		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28403940C>T	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.104G>A	6.37:g.28403940C>T	ENSP00000289788:p.Gly35Asp					ZSCAN23_ENST00000486481.1_Intron	p.G35D	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN			2	249	-			35					Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.104G>A	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176280	0.21704	.	.	ENSG00000187987	ENST00000289788	T	0.05258	3.47	3.01	2.13	0.27403	.	0.247697	0.21216	N	0.078222	T	0.00845	0.0028	N	0.08118	0	0.22918	N	0.998565	B;B	0.14012	0.008;0.009	B;B	0.16289	0.015;0.008	T	0.48091	-0.9065	10	0.11794	T	0.64	.	8.0804	0.30741	0.0:0.8729:0.0:0.1271	.	35;35	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	D	35	ENSP00000289788:G35D	ENSP00000289788:G35D	G	-	2	0	ZSCAN23	28511919	0.002000	0.14202	0.062000	0.19696	0.988000	0.76386	0.291000	0.18994	0.798000	0.33994	0.557000	0.71058	GGC		0.527	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		14	45	0	0	0	1	0	14	45					T	28403940	C	T	28403940	3	4	79	1	0	0	0	0	1	0	0	0	18288	739	26	2	1077	2	ZSCAN23	6	28403940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37889	28403940	142711127	7142	17459											
GPX6	257202	broad.mit.edu	37	chr6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttccagcggatatcatgGaccttcatgggctcccagaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512																																						ENST00000474923.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(427-429)tCc>tTc		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						66	66	66					6																	28472207		1888	4128	6016	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472207G>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.428C>T	6.37:g.28472207G>A	ENSP00000417364:p.Ser143Phe					GPX6_ENST00000361902.1_Silent_p.V176V	p.S143F			P59796	GPX6_HUMAN			4	471	-			0					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.428C>T		.	.	.	.	.	.	.	.	.	.	G	14.30	2.494134	0.44352	.	.	ENSG00000198704	ENST00000474923	T	0.13307	2.6	4.31	1.47	0.22746	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05903	-1.0857	6	0.72032	D	0.01	.	5.873	0.18814	0.1769:0.0:0.6685:0.1546	.	.	.	.	F	143	ENSP00000417364:S143F	ENSP00000417364:S143F	S	-	2	0	GPX6	28580186	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	1.669000	0.37492	0.300000	0.22699	0.591000	0.81541	TCC		0.512	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			10	268	0	0	0	1	0	10	268					A	28472207	G	A	28472207	3	1	79	1	0	0	0	0	1	0	0	0	6774	1161	41	2	141	2	GPX6	6	28472207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68267	28472207	142642860	7143	17460											
GPX5	2880	broad.mit.edu	37	chr6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccatctatgactatgaGgccatcgcacttaataagaa	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	44					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(130-132)gaG>gaT		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						171	141	151					6																	28497272		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497272G>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.132G>T	6.37:g.28497272G>T	ENSP00000392398:p.Glu44Asp					GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	p.E44D	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			2	221	+			44					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.132G>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868061	0.02590	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03982	3.74;3.74	3.65	-5.39	0.02664	Thioredoxin-like fold (2);	1.372440	0.04755	N	0.425323	T	0.01558	0.0050	M	0.65975	2.015	0.18873	N	0.999986	B;B	0.18863	0.031;0.0	B;B	0.17098	0.017;0.001	T	0.44205	-0.9343	10	0.40728	T	0.16	-0.7799	1.8104	0.03089	0.1694:0.1208:0.2565:0.4533	.	44;44	A1A4Y0;O75715	.;GPX5_HUMAN	D	44	ENSP00000392398:E44D;ENSP00000419935:E44D	ENSP00000392398:E44D	E	+	3	2	GPX5	28605251	0.148000	0.22702	0.001000	0.08648	0.292000	0.27327	-0.894000	0.04123	-1.342000	0.02222	-0.182000	0.12963	GAG		0.433	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			41	229	1	0	5.71845e-15	1	6.23116e-15	41	229					T	28497272	G	T	28497272	3	4	79	1	0	0	0	0	1	0	0	0	6773	991	35	3	138	3	GPX5	6	28497272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25065	28497272	142617795	7144	17461											
GPX5	2880	broad.mit.edu	37	chr6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaatccctgtcatgcGctggtcccaccgggctacgg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(589-591)cGc>cAc		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						88	88	88					6																	28501868		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28501868G>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.590G>A	6.37:g.28501868G>A	ENSP00000392398:p.Arg197His					GPX5_ENST00000442674.2_3'UTR	p.R197H	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			5	679	+			197					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.590G>A	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152846	0.94645	.	.	ENSG00000224586	ENST00000412168	T	0.04917	3.53	4.52	4.52	0.55395	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.02560	-1.1141	10	0.66056	D	0.02	-11.5047	15.5724	0.76349	0.0:0.0:1.0:0.0	.	197	O75715	GPX5_HUMAN	H	197	ENSP00000392398:R197H	ENSP00000392398:R197H	R	+	2	0	GPX5	28609847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.365000	0.73090	2.793000	0.96121	0.655000	0.94253	CGC		0.512	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			83	422	0	0	0	1	0	83	422					A	28501868	G	A	28501868	3	1	79	1	0	0	0	0	1	0	0	0	6773	1087	38	1	608	1	GPX5	6	28501868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4596	28501868	142613199	7145	17462											
SCAND3	114821	broad.mit.edu	37	chr6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgggtttcttgccttgcaGaaacactaagagttcatttc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttgccttgcagaaacactaag	0.378																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3244-3246)Ctg>Atg		SCAN domain containing 3							67	67	67					6																	28540422		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540422G>T																												ENST00000452236.2:c.3244C>A	6.37:g.28540422G>T	ENSP00000395259:p.Leu1082Met						p.L1082M	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3861	-			1082						Missense_Mutation	SNP	ENST00000452236.2	37	c.3244C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898401	0.33535	.	.	ENSG00000232040	ENST00000452236	T	0.40225	1.04	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.546150	0.12347	N	0.476966	T	0.42832	0.1220	M	0.62154	1.92	0.24564	N	0.993958	D	0.58970	0.984	D	0.70487	0.969	T	0.07966	-1.0745	10	0.45353	T	0.12	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1082	Q6R2W3	SCND3_HUMAN	M	1082	ENSP00000395259:L1082M	ENSP00000395259:L1082M	L	-	1	2	SCAND3	28648401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	1.507000	0.48752	0.561000	0.74099	CTG		0.378	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			21	449	1	0	3.62473e-10	1	3.83521e-10	21	449					T	28540422	G	T	28540422	3	4	79	1	0	0	0	0	1	0	0	0	13926	933	33	3	737	3	SCAND3	6	28540422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38554	28540422	142574645	7146	17463											
SCAND3	114821	broad.mit.edu	37	chr6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatatgaagcccgcaaagCactaatgtttatatgagaaa	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcccgcaaagcactaatgttt	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2455-2457)Gct>Act		SCAN domain containing 3							118	113	115					6																	28541211		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541211C>T																												ENST00000452236.2:c.2455G>A	6.37:g.28541211C>T	ENSP00000395259:p.Ala819Thr						p.A819T	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3072	-			819						Missense_Mutation	SNP	ENST00000452236.2	37	c.2455G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213948	0.58452	.	.	ENSG00000232040	ENST00000452236	T	0.01685	4.69	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000035	T	0.02380	0.0073	L	0.52011	1.625	0.26505	N	0.974691	D	0.57571	0.98	D	0.72338	0.977	T	0.43893	-0.9363	10	0.49607	T	0.09	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	819	Q6R2W3	SCND3_HUMAN	T	819	ENSP00000395259:A819T	ENSP00000395259:A819T	A	-	1	0	SCAND3	28649190	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GCT		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			109	474	0	0	0	1	0	109	474					T	28541211	C	T	28541211	3	4	79	1	0	0	0	0	1	0	0	0	13926	710	25	2	1526	2	SCAND3	6	28541211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	28541211	142573856	7147	17464											
SCAND3	114821	broad.mit.edu	37	chr6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccctgatggctttagCattttggaaggtttaacagg	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGCTTTAGCATTTTGGAAG	0.418																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2011-2013)atG>atA		SCAN domain containing 3							168	170	169					6																	28542469		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542469C>T																												ENST00000452236.2:c.2013G>A	6.37:g.28542469C>T	ENSP00000395259:p.Met671Ile						p.M671I	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	2630	-			671						Missense_Mutation	SNP	ENST00000452236.2	37	c.2013G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925525	0.34002	.	.	ENSG00000232040	ENST00000452236	T	0.02395	4.31	3.51	2.63	0.31362	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.24768	N	0.992881	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	9	0.72032	D	0.01	.	6.8742	0.24137	0.0:0.8686:0.0:0.1314	.	671	Q6R2W3	SCND3_HUMAN	I	671	ENSP00000395259:M671I	ENSP00000395259:M671I	M	-	3	0	SCAND3	28650448	0.996000	0.38824	0.876000	0.34364	0.989000	0.77384	1.206000	0.32321	0.817000	0.34445	0.563000	0.77884	ATG		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			157	800	0	0	0	1	0	157	800					T	28542469	C	T	28542469	3	4	79	1	0	0	0	0	1	0	0	0	13926	710	25	2	1972	2	SCAND3	6	28542469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1258	28542469	142572598	7148	17465											
SCAND3	114821	broad.mit.edu	37	chr6	28542676	28542676	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcacaaactacacaGgataaaaatcttagtctgct	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAACTACACAGGATAAAAATC	0.403																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1804-1806)tcC>tcA		SCAN domain containing 3							53	52	52					6																	28542676		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542676G>T																												ENST00000452236.2:c.1806C>A	6.37:g.28542676G>T							p.S602S	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	2423	-			602						Silent	SNP	ENST00000452236.2	37	c.1806C>A	CCDS34355.1																																																																																				0.403	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			41	150	1	0	9.73076e-26	1	1.11809e-25	41	150					T	28542676	G	T	28542676	2	4	79	1	0	0	0	0	0	0	0	1	13926	987	35	3		3	SCAND3	6	28542676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	28542676	142572391	7149	17466											
ZNF311	282890	broad.mit.edu	37	chr6	28963774	28963774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaggccttcccacaGtccctgcactcgtgaggctt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28963774G>A	ENST00000377179.3	-	7	1517	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	335					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTTCCCACAGTCCCTGCACT	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1003-1005)gaC>gaT		zinc finger protein 311							85	60	69					6																	28963774		1511	2708	4219	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963774G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1005C>T	6.37:g.28963774G>A						ZNF311_ENST00000483450.1_5'UTR	p.D335D	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1517	-			335					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1005C>T	CCDS34357.1																																																																																				0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		6	210	0	0	0	1	0	6	210					A	28963774	G	A	28963774	2	1	79	1	0	0	0	0	0	0	0	1	17887	1020	36	2		2	ZNF311	6	28963774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421098	28963774	142151293	7150	17467											
ZNF311	282890	broad.mit.edu	37	chr6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacatcctcaaatgtcactGactcctgaaataatatgctc	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	63					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(187-189)tCa>tTa		zinc finger protein 311							118	84	96					6																	28967386		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28967386G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.188C>T	6.37:g.28967386G>A	ENSP00000366384:p.Ser63Leu					ZNF311_ENST00000483450.1_5'UTR	p.S63L	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			5	700	-			63					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.188C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033476	0.19590	.	.	ENSG00000197935	ENST00000377179	T	0.00737	5.76	3.48	-0.559	0.11792	Krueppel-associated box (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27673	-1.0067	9	0.15952	T	0.53	0.0796	0.4756	0.00539	0.3388:0.1782:0.3009:0.1821	.	63	Q5JNZ3	ZN311_HUMAN	L	63	ENSP00000366384:S63L	ENSP00000366384:S63L	S	-	2	0	ZNF311	29075365	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.429000	0.21412	-0.041000	0.13558	0.585000	0.79938	TCA		0.438	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		48	168	0	0	0	1	0	48	168					A	28967386	G	A	28967386	3	1	79	1	0	0	0	0	1	0	0	0	17887	1294	45	2	1824	2	ZNF311	6	28967386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	28967386	142147681	7151	17468											
OR2J3	442186	broad.mit.edu	37	chr6	29079703	29079703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcaatgctagctctgaGgggtactttattttagttgg	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079703G>T	ENST00000377169.1	+	1	36	c.36G>T	c.(34-36)gaG>gaT	p.E12D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTAGCTCTGAGGGGTACTTTA	0.348																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(34-36)gaG>gaT		olfactory receptor, family 2, subfamily J, member 3							212	214	213					6																	29079703		1137	2491	3628	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079703G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.36G>T	6.37:g.29079703G>T	ENSP00000366374:p.Glu12Asp						p.E12D	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	36	+			12					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.36G>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.956571	0.00465	.	.	ENSG00000204701	ENST00000377169	T	0.00575	6.46	2.92	1.69	0.24217	.	.	.	.	.	T	0.00178	0.0005	L	0.31845	0.965	0.09310	N	1	B	0.17038	0.02	B	0.20184	0.028	T	0.42699	-0.9436	9	0.34782	T	0.22	.	1.0291	0.01534	0.5117:0.1768:0.1378:0.1736	.	12	O76001	OR2J3_HUMAN	D	12	ENSP00000366374:E12D	ENSP00000366374:E12D	E	+	3	2	OR2J3	29187682	0.015000	0.18098	0.078000	0.20375	0.058000	0.15608	1.383000	0.34385	0.282000	0.22254	0.411000	0.27672	GAG		0.348	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			26	965	1	0	2.39556e-15	1	2.61601e-15	26	965					T	29079703	G	T	29079703	3	4	79	1	0	0	0	0	1	0	0	0	11046	991	35	3	38	3	OR2J3	6	29079703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112317	29079703	142035364	7152	17469											
OR2J3	442186	broad.mit.edu	37	chr6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtggttgtcttgatcttCtacttgatgacactgatagg	10	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(109-111)ttC>ttA		olfactory receptor, family 2, subfamily J, member 3							271	284	280					6																	29079778		1287	2580	3867	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079778C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.111C>A	6.37:g.29079778C>A	ENSP00000366374:p.Phe37Leu						p.F37L	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	111	+			37					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.111C>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047120	0.08243	.	.	ENSG00000204701	ENST00000377169	T	0.00625	6.14	2.78	2.78	0.32641	.	.	.	.	.	T	0.00210	0.0006	N	0.16903	0.455	0.26392	N	0.976556	B	0.17852	0.024	B	0.21151	0.033	T	0.43048	-0.9415	9	0.32370	T	0.25	.	5.3118	0.15835	0.0:0.6649:0.2122:0.1229	.	37	O76001	OR2J3_HUMAN	L	37	ENSP00000366374:F37L	ENSP00000366374:F37L	F	+	3	2	OR2J3	29187757	0.000000	0.05858	0.965000	0.40720	0.159000	0.22180	-0.819000	0.04462	1.549000	0.49425	0.436000	0.28706	TTC		0.403	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			261	976	1	0	1.14998e-99	1	1.47899e-99	261	976					A	29079778	C	A	29079778	3	1	79	1	0	0	0	0	1	0	0	0	11046	912	32	3	113	3	OR2J3	6	29079778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	29079778	142035289	7153	17470											
OR2J2	26707	broad.mit.edu	37	chr6	29142140	29142140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagtgtttaggacatgtgGagcccatcttatggttgtat	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29142140G>A	ENST00000377167.2	+	1	830	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGACATGTGGAGCCCATCTT	0.463																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(727-729)gGa>gAa		olfactory receptor, family 2, subfamily J, member 2							133	118	122					6																	29142140		1931	4133	6064	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142140G>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.728G>A	6.37:g.29142140G>A	ENSP00000366372:p.Gly243Glu						p.G243E	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	830	+			243					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.728G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406875	0.11754	.	.	ENSG00000204700	ENST00000377167	T	0.37752	1.18	2.0	0.884	0.19182	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48390	0.1497	M	0.91459	3.21	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.22277	-1.0221	9	0.87932	D	0	.	3.8844	0.09091	0.0:0.2146:0.3755:0.4099	.	243	O76002	OR2J2_HUMAN	E	243	ENSP00000366372:G243E	ENSP00000366372:G243E	G	+	2	0	OR2J2	29250119	0.000000	0.05858	0.790000	0.31976	0.631000	0.37964	-0.239000	0.08965	1.101000	0.41535	0.205000	0.17691	GGA		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			15	674	0	0	0	1	0	15	674					A	29142140	G	A	29142140	3	1	79	1	0	0	0	0	1	0	0	0	11045	1174	41	2	730	2	OR2J2	6	29142140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62362	29142140	141972927	7154	17471											
OR14J1	442191	broad.mit.edu	37	chr6	29275057	29275057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattaatgagattgcactGgctgcattcacaacgtctgc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(589-591)ctG>ctA		olfactory receptor, family 14, subfamily J, member 1							159	163	162					6																	29275057		1511	2709	4220	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275057G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.591G>A	6.37:g.29275057G>A							p.L197L	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	655	+			197					A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.591G>A	CCDS34362.1																																																																																				0.438	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			120	572	0	0	0	1	0	120	572					A	29275057	G	A	29275057	2	1	79	1	0	0	0	0	0	0	0	1	10990	1335	47	2		2	OR14J1	6	29275057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132917	29275057	141840010	7155	17472											
OR10C1	442194	broad.mit.edu	37	chr6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttggagattggctatacgtCtgtcacggtccccctgctac	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(220-222)tCt>tTt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							167	147	154					6																	29408013		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408013C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.221C>T	6.37:g.29408013C>T	ENSP00000419119:p.Ser74Phe					OR11A1_ENST00000377149.1_Intron	p.S74F	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	931	+			74					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.221C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713759	0.15306	.	.	ENSG00000206474	ENST00000444197	T	0.03181	4.02	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002426	T	0.03011	0.0089	M	0.83223	2.63	0.09310	N	1	B	0.22003	0.063	B	0.28305	0.088	T	0.17440	-1.0369	10	0.49607	T	0.09	.	9.1445	0.36923	0.0:0.8952:0.0:0.1048	.	74	Q96KK4	O10C1_HUMAN	F	74	ENSP00000419119:S74F	ENSP00000419119:S74F	S	+	2	0	OR10C1	29515992	0.017000	0.18338	0.026000	0.17262	0.008000	0.06430	2.401000	0.44513	1.946000	0.56461	0.430000	0.28490	TCT		0.557	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			113	512	0	0	0	1	0	113	512					T	29408013	C	T	29408013	3	4	79	1	0	0	0	0	1	0	0	0	10940	913	32	2	223	2	OR10C1	6	29408013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132956	29408013	141707054	7156	17473											
OR10C1	442194	broad.mit.edu	37	chr6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagctagctgggtcggCgtgggcctgtggggtgctgg	19	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(439-441)gCg>gTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							80	91	87					6																	29408232		1509	2709	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408232C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.440C>T	6.37:g.29408232C>T	ENSP00000419119:p.Ala147Val					OR11A1_ENST00000377149.1_Intron	p.A147V	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1150	+			147					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.440C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	OR10C1	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG		0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			131	448	0	0	0	1	0	131	448					T	29408232	C	T	29408232	3	4	79	1	0	0	0	0	1	0	0	0	10940	768	27	1	442	1	OR10C1	6	29408232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	29408232	141706835	7157	17474											
OR10C1	442194	broad.mit.edu	37	chr6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctgttgcgggccgccGcaaggccttctccacctgct	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(700-702)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							237	264	254					6																	29408493		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408493G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.701G>A	6.37:g.29408493G>A	ENSP00000419119:p.Arg234His					OR11A1_ENST00000377149.1_Intron	p.R234H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1411	+			234					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.701G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683637	0.00745	.	.	ENSG00000206474	ENST00000444197	T	0.00034	8.87	3.49	-0.841	0.10752	GPCR, rhodopsin-like superfamily (1);	0.381454	0.19248	N	0.119008	T	0.00012	0.0000	N	0.11927	0.2	0.09310	N	0.999999	B	0.10296	0.003	B	0.16289	0.015	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.6493	0.12587	0.4259:0.0:0.429:0.1451	.	234	Q96KK4	O10C1_HUMAN	H	234	ENSP00000419119:R234H	ENSP00000419119:R234H	R	+	2	0	OR10C1	29516472	0.000000	0.05858	0.049000	0.19019	0.015000	0.08874	-1.504000	0.02275	-0.486000	0.06744	-0.332000	0.08345	CGC		0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			69	1598	0	0	0	1	0	69	1598					A	29408493	G	A	29408493	3	1	79	1	0	0	0	0	1	0	0	0	10940	1087	38	1	703	1	OR10C1	6	29408493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	29408493	141706574	7158	17475											
OR10C1	442194	broad.mit.edu	37	chr6	29408552	29408552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctcttctatggcaccGcactctttatctatattcgc	4	15	5	0	rs374582900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408552G>A	ENST00000444197.2	+	1	1470	c.760G>A	c.(760-762)Gca>Aca	p.A254T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTATGGCACCGCACTCTTTAT	0.582																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(760-762)Gca>Aca		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							267	300	288					6																	29408552		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408552G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.760G>A	6.37:g.29408552G>A	ENSP00000419119:p.Ala254Thr					OR11A1_ENST00000377149.1_Intron	p.A254T	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1470	+			254					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.760G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992304	0.54041	.	.	ENSG00000206474	ENST00000444197	T	0.00169	8.63	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001525	T	0.00039	0.0001	N	0.13371	0.34	0.30451	N	0.77526	P	0.35959	0.53	B	0.31495	0.131	T	0.00055	-1.2179	10	0.66056	D	0.02	.	8.8589	0.35245	0.1069:0.0:0.8931:0.0	.	254	Q96KK4	O10C1_HUMAN	T	254	ENSP00000419119:A254T	ENSP00000419119:A254T	A	+	1	0	OR10C1	29516531	0.001000	0.12720	0.187000	0.23214	0.927000	0.56198	0.908000	0.28545	1.795000	0.52594	0.603000	0.83216	GCA		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			69	1638	0	0	0	1	0	69	1638					A	29408552	G	A	29408552	3	1	79	1	0	0	0	0	1	0	0	0	10940	1087	38	1	762	1	OR10C1	6	29408552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	29408552	141706515	7159	17476											
OR10C1	442194	broad.mit.edu	37	chr6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaaccatccagaaaaCggtgcctatggagatttgaa	10	7	0	4	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T307M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502																																						ENST00000444197.2																			1	Substitution - Missense(1)	p.T307M(1)	ovary(1)	NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(919-921)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)		C	MET/THR	2,3020		0,2,1509	87	92	91		920	2.2	0.4	6	dbSNP_134	91	0,5418		0,0,2709	no	missense	OR10C1	NM_013941.3	81	0,2,4218	TT,TC,CC		0.0,0.0662,0.0237	benign	307/313	29408712	2,8438	1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408712C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.920C>T	6.37:g.29408712C>T	ENSP00000419119:p.Thr307Met					OR11A1_ENST00000377149.1_Intron	p.T307M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1630	+			307					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.920C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936656	0.02340	6.62E-4	0.0	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.44	2.16	0.27623	.	0.353536	0.20583	N	0.089488	T	0.00039	0.0001	N	0.21282	0.65	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.28427	-1.0044	10	0.39692	T	0.17	.	7.4689	0.27336	0.0:0.11:0.0:0.89	.	307	Q96KK4	O10C1_HUMAN	M	307	ENSP00000419119:T307M	ENSP00000419119:T307M	T	+	2	0	OR10C1	29516691	0.001000	0.12720	0.446000	0.26920	0.022000	0.10575	0.243000	0.18106	0.412000	0.25729	-0.312000	0.09012	ACG		0.502	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			97	395	0	0	0	1	0	97	395					T	29408712	C	T	29408712	3	4	79	1	0	0	0	0	1	0	0	0	10940	536	19	1	922	1	OR10C1	6	29408712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	29408712	141706355	7160	17477											
MAS1L	116511	broad.mit.edu	37	chr6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggtggccttttgctgCtgggagcagcacaggaatct	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	255					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(763-765)caG>caT		MAS1 oncogene-like							37	39	38					6																	29454915		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454915C>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.765G>T	6.37:g.29454915C>A	ENSP00000366331:p.Gln255His						p.Q255H	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	823	-			255					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.765G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716025	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.37411	1.2	2.23	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.29188	0.236	B	0.36989	0.238	T	0.32877	-0.9890	9	0.23302	T	0.38	.	10.2658	0.43453	0.0:1.0:0.0:0.0	.	255	P35410	MAS1L_HUMAN	H	255	ENSP00000366331:Q255H	ENSP00000366331:Q255H	Q	-	3	2	MAS1L	29562894	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.708000	0.25719	1.291000	0.44653	0.498000	0.49722	CAG		0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		52	192	1	0	1.63038e-21	1	1.83746e-21	52	192					A	29454915	C	A	29454915	3	1	79	1	0	0	0	0	1	0	0	0	9362	796	28	3	373	3	MAS1L	6	29454915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46203	29454915	141660152	7161	17478											
OR2H2	7932	broad.mit.edu	37	chr6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagaccatcagcttcctgGactgctctgtccagatcttc	8	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	94					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(280-282)Gac>Aac		olfactory receptor, family 2, subfamily H, member 2							121	117	119					6																	29556001		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556001G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.280G>A	6.37:g.29556001G>A	ENSP00000373136:p.Asp94Asn					GABBR1_ENST00000355973.3_Intron	p.D94N	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	319	+			94					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.280G>A	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273938	0.40194	.	.	ENSG00000204657	ENST00000383640	T	0.03004	4.08	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	94	O95918	OR2H2_HUMAN	N	94	ENSP00000373136:D94N	ENSP00000373136:D94N	D	+	1	0	OR2H2	29663980	0.049000	0.20398	0.940000	0.37924	0.964000	0.63967	2.301000	0.43628	2.292000	0.77174	0.585000	0.79938	GAC		0.542	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			96	383	0	0	0	1	0	96	383					A	29556001	G	A	29556001	3	1	79	1	0	0	0	0	1	0	0	0	11044	1174	41	2	282	2	OR2H2	6	29556001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101086	29556001	141559066	7162	17479											
OR2H2	7932	broad.mit.edu	37	chr6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatatacaccctgaggaAcaaggaggtaaccagggcat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	292					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(874-876)aAc>aGc		olfactory receptor, family 2, subfamily H, member 2							46	51	49					6																	29556596		1510	2708	4218	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556596A>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.875A>G	6.37:g.29556596A>G	ENSP00000373136:p.Asn292Ser					GABBR1_ENST00000355973.3_Intron	p.N292S	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	914	+			292					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.875A>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679557	0.47886	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.31	3.12	0.35913	.	0.000000	0.45126	D	0.000396	T	0.44850	0.1313	M	0.64997	1.995	0.23831	N	0.996729	D	0.89917	1.0	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	.	10.013	0.41997	0.8293:0.1707:0.0:0.0	.	292	O95918	OR2H2_HUMAN	S	292	ENSP00000373136:N292S	ENSP00000373136:N292S	N	+	2	0	OR2H2	29664575	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.753000	0.47524	0.658000	0.30925	0.482000	0.46254	AAC		0.498	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			45	190	0	0	0	1	0	45	190					G	29556596	A	G	29556596	3	3	79	1	0	0	0	0	1	0	0	0	11044	43	2	4	877	4	OR2H2	6	29556596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	595	29556596	141558471	7163	17480											
GABBR1	2550	broad.mit.edu	37	chr6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattggcaggattcagcatgAcaatctcagttgtgatgtgg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	428					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATTCAGCATGACAATCTCAGT	0.537																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1282-1284)gTc>gAc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						144	110	122					6																	29588918		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29588918A>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1283T>A	6.37:g.29588918A>T	ENSP00000366233:p.Val428Asp					GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	p.V428D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			11	1618	-			428					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1283T>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	a	25.9	4.685199	0.88639	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.947;0.943;0.999;0.999	D	0.83484	0.0066	10	0.72032	D	0.01	-16.2389	13.8215	0.63322	1.0:0.0:0.0:0.0	.	428;366;428;311	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	311;428;366;311;428	ENSP00000348248:V311D;ENSP00000366176:V428D;ENSP00000366215:V366D;ENSP00000366211:V311D;ENSP00000366233:V428D	ENSP00000348248:V311D	V	-	2	0	GABBR1	29696897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.806000	0.91930	2.168000	0.68352	0.520000	0.50463	GTC		0.537	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			13	297	0	0	0	1	0	13	297					T	29588918	A	T	29588918	3	4	79	1	0	0	0	0	1	0	0	0	6182	275	10	5	1654	5	GABBR1	6	29588918	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32322	29588918	141526149	7164	17481											
MOG	4340	broad.mit.edu	37	chr6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgctggttctcctcgCggtgctgcctgtgctcctcc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376917.3	+	3	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000416766.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.A160V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557																																						ENST00000376894.4																			1	Substitution - Missense(1)	p.A160V(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(478-480)gCg>gTg		myelin oligodendrocyte glycoprotein							296	249	266					6																	29633971		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29633971C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.479C>T	6.37:g.29633971C>T	ENSP00000366115:p.Ala160Val					MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000376917.3_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V	p.A160V			Q16653	MOG_HUMAN			3	597	+			160					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.479C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	MOG	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		180	783	0	0	0	1	0	180	783					T	29633971	C	T	29633971	3	4	79	1	0	0	0	0	1	0	0	0	9734	768	27	1	573	1	MOG	6	29633971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45053	29633971	141481096	7165	17482											
MOG	4340	broad.mit.edu	37	chr6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctattttaggaaaacttCgagcagagataggtgagttc	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376917.3	+	4	788	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376894.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	187					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(559-561)Cga>Tga		myelin oligodendrocyte glycoprotein							186	179	181					6																	29635428		2203	4300	6503	SO:0001587	stop_gained	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29635428C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.559C>T	6.37:g.29635428C>T	ENSP00000366115:p.Arg187*					MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376917.3_Nonsense_Mutation_p.R187*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*	p.R187*			Q16653	MOG_HUMAN			4	677	+			187					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	37	c.559C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920335	0.73098	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.09	2.36	0.29203	.	0.343745	0.21435	N	0.074597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4759	0.16695	0.0:0.6592:0.1633:0.1775	.	.	.	.	X	187;71;187;71;71;149;187;187;187;187;187;187	.	ENSP00000366085:R71X	R	+	1	2	MOG	29743407	0.022000	0.18835	0.326000	0.25389	0.956000	0.61745	0.731000	0.26058	0.412000	0.25729	0.655000	0.94253	CGA		0.507	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		35	376	0	0	0	1	0	35	376					T	29635428	C	T	29635428	4	4	79	1	0	0	0	0	0	1	0	0	9734	876	31	1	657	1	MOG	6	29635428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	29635428	141479639	7166	17483											
ZFP57	4340	broad.mit.edu	37	chr6	29640963	29640963	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggacctctggcttctggCgatgggtgtctggaattcag	15	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29640963C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.A289T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T|ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGGCTTCTGGCGATGGGTGTC	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(865-867)Gcc>Acc		ZFP57 zinc finger protein							130	138	135					6																	29640963		1213	2525	3738	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640963C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640963C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T	p.A289T			Q9NU63	ZFP57_HUMAN			6	1276	-			225					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.865G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	2.158	-0.392957	0.04899	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05258	3.47;3.69;3.69	2.51	-4.64	0.03349	.	5.236760	0.00357	N	0.000029	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	10	0.59425	D	0.04	4.3909	1.7189	0.02908	0.138:0.4272:0.1366:0.2982	.	309;289	Q9NU63-3;Q9NU63-2	.;.	T	309;289;289	ENSP00000418259:A309T;ENSP00000366078:A289T;ENSP00000366080:A289T	ENSP00000366078:A289T	A	-	1	0	ZFP57	29748942	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.236000	0.00139	-1.344000	0.02216	-1.411000	0.01122	GCC		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		151	608	0	0	0	1	0	151	608					T	29640963	C	T	29640963	1	4	79	0	1	0	0	0	0	0	0	0	17704	768	27	1		1	ZFP57	6	29640963	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5535	29640963	141474104	7167	17484											
ZFP57	4340	broad.mit.edu	37	chr6	29641220	29641220	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctccccaagatgcatgCgtctgtgatagctgagggac	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29641220C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.R203H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAGATGCATGCGTCTGTGATA	0.537																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(607-609)cGc>cAc		ZFP57 zinc finger protein							90	101	97					6																	29641220		1356	2606	3962	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641220C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641220C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H	p.R203H			Q9NU63	ZFP57_HUMAN			6	1019	-			139					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.608G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253145	0.10185	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.54	0.30619	.	0.531595	0.15970	N	0.235819	T	0.12178	0.0296	M	0.82517	2.595	0.09310	N	1	P;P	0.50617	0.937;0.937	B;B	0.34346	0.18;0.18	T	0.10989	-1.0606	10	0.87932	D	0	-10.225	7.4085	0.27004	0.0:0.723:0.1784:0.0986	.	223;203	Q9NU63-3;Q9NU63-2	.;.	H	223;203;203	ENSP00000418259:R223H;ENSP00000366078:R203H;ENSP00000366080:R203H	ENSP00000366078:R203H	R	-	2	0	ZFP57	29749199	0.000000	0.05858	0.016000	0.15963	0.029000	0.11900	0.106000	0.15354	0.563000	0.29222	0.650000	0.86243	CGC		0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		77	320	0	0	0	1	0	77	320					T	29641220	C	T	29641220	1	4	79	0	1	0	0	0	0	0	0	0	17704	768	27	1		1	ZFP57	6	29641220	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	29641220	141473847	7168	17485											
HLA-F	3134	broad.mit.edu	37	chr6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggccgcggggagccccGctacatcgccgtggagtacg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	42	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of 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)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGAGCCCCGCTACATCGCC	0.687																																						ENST00000376861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(124-126)cGc>cAc		major histocompatibility complex, class I, F							18	22	21					6																	29691495		1480	2692	4172	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691495G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.125G>A	6.37:g.29691495G>A	ENSP00000366057:p.Arg42His					HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR	p.R42H			P30511	HLAF_HUMAN			3	509	+			42			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.125G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028772	0.07589	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00856	9.34;5.61;9.34;9.34;9.34	1.63	0.666	0.17901	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.288637	0.18382	U	0.142933	T	0.01905	0.0060	M	0.90198	3.095	0.21675	N	0.999592	P;D;D;D	0.76494	0.837;0.999;0.996;0.998	B;D;B;D	0.70716	0.228;0.916;0.198;0.97	T	0.36016	-0.9765	10	0.87932	D	0	.	4.0933	0.09980	0.2471:0.0:0.7529:0.0	.	42;42;42;42	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	42	ENSP00000366057:R42H;ENSP00000389590:R42H;ENSP00000334263:R42H;ENSP00000259951:R42H;ENSP00000397376:R42H	ENSP00000259951:R42H	R	+	2	0	HLA-F	29799474	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.327000	0.07955	0.015000	0.14971	0.436000	0.28706	CGC		0.687	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		6	162	0	0	0	1	0	6	162					A	29691495	G	A	29691495	3	1	79	1	0	0	0	0	1	0	0	0	7241	1087	38	1	131	1	HLA-F	6	29691495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50275	29691495	141423572	7169	17486											
HLA-G	3135	broad.mit.edu	37	chr6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcgccctgaacgaggacCtgcgctcctggaccgcagcg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000360323.6	+	3	484	c.460C>A	c.(460-462)Ctg>Atg	p.L154M	HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.622																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21	GRCh37	CD984106	HLA-G	D	rs41557518	c.(460-462)Ctg>Atg		major histocompatibility complex, class I, G							113	99	104					6																	29796436		1511	2709	4220	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29796436C>A		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.460C>A	6.37:g.29796436C>A	ENSP00000353472:p.Leu154Met					HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron	p.L154M	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			4	638	+			154			Alpha-2.			Missense_Mutation	SNP	ENST00000360323.6	37	c.460C>A	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193006	0.38707	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.01076	5.37;5.37;5.37	1.72	-0.768	0.11013	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.537287	0.12660	U	0.449709	T	0.03348	0.0097	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19745	-1.0296	10	0.87932	D	0	.	2.4347	0.04480	0.4383:0.3625:0.0:0.1993	.	159;154	Q5RJ85;P17693	.;HLAG_HUMAN	M	159;154;154	ENSP00000366024:L159M;ENSP00000412927:L154M;ENSP00000353472:L154M	ENSP00000353472:L154M	L	+	1	2	HLA-G	29904415	0.000000	0.05858	0.890000	0.34922	0.087000	0.18053	-0.549000	0.06041	0.071000	0.16664	0.298000	0.19748	CTG		0.622	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		25	512	1	0	1.96895e-08	1	2.05624e-08	25	512					A	29796436	C	A	29796436	3	1	79	1	0	0	0	0	1	0	0	0	7242	680	24	3	470	3	HLA-G	6	29796436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104941	29796436	141318631	7170	17487											
HLA-A	3105	broad.mit.edu	37	chr6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G													cgggcgcttcctccgcgggtAccggcaggacgcctacgacg					rs199474503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	137	Alpha-2.				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)			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						CTCCGCGGGTACCGGCAGGAC	0.667									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)																												ENST00000396634.1																			0				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						c.(409-411)tAc>tGc		major histocompatibility complex, class I, A							33	25	28					6																	29911111		1495	2696	4191	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, 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.chr6:29911111A>G	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.410A>G	6.37:g.29911111A>G	ENSP00000379873:p.Tyr137Cys	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C	p.Y137C			P30443	1A01_HUMAN			5	751	+			137			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.410A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.604	1.129503	0.21041	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01068	5.38;5.38;5.38;5.38	3.78	2.5	0.30297	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.538304	0.13547	U	0.379726	T	0.08537	0.0212	H	0.99887	4.895	0.23751	N	0.996947	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0;1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	7.6849	0.28534	0.811:0.0:0.0:0.189	.	16;137;137;137;137;137;137	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	137	ENSP00000379873:Y137C;ENSP00000366002:Y137C;ENSP00000366005:Y137C;ENSP00000365998:Y137C	ENSP00000348012:Y137C	Y	+	2	0	HLA-A	30019090	0.001000	0.12720	0.757000	0.31301	0.175000	0.22909	0.862000	0.27899	1.710000	0.51325	0.397000	0.26171	TAC		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		26	229	0	0	0	1	0	26	229					G	29911111	A	G	29911111	3	3	79	1	0	0	0	0	1	0	0	0	7225	391	14	4	420	4	HLA-A	6	29911111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114675	29911111	141203956	7171	17488	107	2									
HLA-A	3105	broad.mit.edu	37	chr6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A													gcttcctccgcgggtaccggCaggacgcctacgacggcaag					rs199474504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	139	Alpha-2.				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)			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						CGGGTACCGGCAGGACGCCTA	0.657									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)																												ENST00000396634.1																			0				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						c.(415-417)Cag>Aag		major histocompatibility complex, class I, A							34	26	29					6																	29911116		1493	2698	4191	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, 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.chr6:29911116C>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.415C>A	6.37:g.29911116C>A	ENSP00000379873:p.Gln139Lys	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K	p.Q139K			P30443	1A01_HUMAN			5	756	+			139			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.415C>A	CCDS34373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000355767|ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.|T;T;T;T	.|0.00015	.|9.17;9.17;9.17;9.17	3.78|3.78	1.86|1.86	0.25419|0.25419	.|MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	.|0.000000	.|0.34200	.|U	.|0.004173	.|T	.|0.00241	.|0.0007	H|H	0.98238|0.98238	4.18|4.18	0.09310|0.09310	N|N	1|1	.|P;D;P;D;P;D;D	.|0.61697	.|0.641;0.99;0.953;0.989;0.953;0.982;0.989	.|B;D;D;D;D;D;D	.|0.80764	.|0.413;0.994;0.965;0.987;0.965;0.987;0.987	.|T	.|0.25222	.|-1.0138	.|10	.|0.87932	.|D	.|0	.|.	8.0676|8.0676	0.30669|0.30669	0.1792:0.6472:0.1736:0.0|0.1792:0.6472:0.1736:0.0	.|.	.|18;139;139;139;139;139;139	.|B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.|.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	.|K	-1|139	.|ENSP00000379873:Q139K;ENSP00000366002:Q139K;ENSP00000366005:Q139K;ENSP00000365998:Q139K	.|ENSP00000365998:Q139K	.|Q	+|+	.|1	.|0	HLA-A|HLA-A	30019095|30019095	0.054000|0.054000	0.20591|0.20591	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.909000|1.909000	0.39917|0.39917	0.327000|0.327000	0.23409|0.23409	0.485000|0.485000	0.47835|0.47835	.|CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		45	218	1	0	2.24722e-20	1	2.51766e-20	45	218					A	29911116	C	A	29911116	3	1	79	1	0	0	0	0	1	0	0	0	7225	711	25	3	425	3	HLA-A	6	29911116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	29911116	141203951	7172	17489	107	2									
PPP1R11	6992	broad.mit.edu	37	chr6	30036959	30036959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaagagggctgtgGtcatacacactgtgtacgtg	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30036959G>A	ENST00000376772.3	+	3	580	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	86						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GAGGGCTGTGGTCATACACAC	0.602																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(256-258)gGt>gAt		protein phosphatase 1, regulatory (inhibitor) subunit 11							76	79	78					6																	30036959		1509	2708	4217	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036959G>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.257G>A	6.37:g.30036959G>A	ENSP00000365963:p.Gly86Asp					PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D	p.G86D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	580	+			86						Missense_Mutation	SNP	ENST00000376772.3	37	c.257G>A	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321611	0.60634	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.53	0.55603	.	0.152389	0.64402	D	0.000016	T	0.27524	0.0676	L	0.29908	0.895	0.53688	D	0.999974	P	0.37061	0.58	B	0.37601	0.254	T	0.26155	-1.0111	9	0.87932	D	0	-0.286	11.592	0.50951	0.0:0.0:0.8219:0.1781	.	86	O60927	PP1RB_HUMAN	D	34;86;34;34;34;34	.	ENSP00000365949:G34D	G	+	2	0	PPP1R11	30144938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.799000	0.85936	1.257000	0.44085	0.549000	0.68633	GGT		0.602	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		9	504	0	0	0	1	0	9	504					A	30036959	G	A	30036959	3	1	79	1	0	0	0	0	1	0	0	0	12400	1261	44	2	267	2	PPP1R11	6	30036959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125843	30036959	141078108	7173	17490											
RNF39	80352	broad.mit.edu	37	chr6	30038975	30038975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcccccagggggccaggCgcctggaaggcgtaaagcag	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGGGGCCAGGCGCCTGGAAGG	0.687																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1174-1176)gcG>gcA		ring finger protein 39							15	11	13					6																	30038975		1496	2697	4193	SO:0001819	synonymous_variant	80352					cytoplasm	zinc ion binding	g.chr6:30038975C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1176G>A	6.37:g.30038975C>T						RNF39_ENST00000376751.3_Silent_p.A326A	p.A392A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			4	1273	-			392			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	c.1176G>A	CCDS4673.1																																																																																				0.687	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		22	66	0	0	0	1	0	22	66					T	30038975	C	T	30038975	2	4	79	1	0	0	0	0	0	0	0	1	13541	755	27	1		1	RNF39	6	30038975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	30038975	141076092	7174	17491											
RNF39	80352	broad.mit.edu	37	chr6	30039014	30039014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgagtgagcggccgtcGtagaaggccacgcggccccg	17	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	379	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGCGGCCGTCGTAGAAGGCCA	0.721																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1135-1137)taC>taT		ring finger protein 39							14	11	12					6																	30039014		1494	2681	4175	SO:0001819	synonymous_variant	80352					cytoplasm	zinc ion binding	g.chr6:30039014G>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1137C>T	6.37:g.30039014G>A						RNF39_ENST00000376751.3_Intron	p.Y379Y	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			4	1234	-			379			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	c.1137C>T	CCDS4673.1																																																																																				0.721	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		13	95	0	0	0	1	0	13	95					A	30039014	G	A	30039014	2	1	79	1	0	0	0	0	0	0	0	1	13541	1140	40	1		1	RNF39	6	30039014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	30039014	141076053	7175	17492											
RNF39	80352	broad.mit.edu	37	chr6	30041026	30041026	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatgttgggacttcaaatCtacacagatgaggggaaggg	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39							cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GACTTCAAATCTACACAGATG	0.458																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.e3-1		ring finger protein 39							113	111	112					6																	30041026		1511	2709	4220	SO:0001630	splice_region_variant	80352					cytoplasm	zinc ion binding	g.chr6:30041026C>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.591-1G>T	6.37:g.30041026C>A						RNF39_ENST00000376751.3_Splice_Site		NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			3	688	-								A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Splice_Site	SNP	ENST00000244360.6	37		CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	8.023	0.760024	0.15846	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8043	0.52145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF39	30149005	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	3.515000	0.53429	2.242000	0.73789	0.466000	0.42574	.		0.458	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769	Intron	91	379	1	0	1.61229e-46	1	1.9812e-46	91	379					A	30041026	C	A	30041026	5	1	79	1	0	0	0	0	0	0	1	0	13541	927	32	3	680	3	RNF39	6	30041026	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	30041026	141074041	7176	17493											
TRIM40	135644	broad.mit.edu	37	chr6	30114887	30114887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacatgccagcagaagcGgccagaatccttgacatctc	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597																																						ENST00000396581.1																			0				ovary(1)	1						c.(565-567)gcG>gcA		tripartite motif containing 40							76	68	71					6																	30114887		2203	4300	6503	SO:0001819	synonymous_variant	135644					intracellular	zinc ion binding	g.chr6:30114887G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	6.37:g.30114887G>A						TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A	p.A189A			Q6P9F5	TRI40_HUMAN			4	953	+			189					Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37	c.567G>A																																																																																					0.597	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			72	264	0	0	0	1	0	72	264					A	30114887	G	A	30114887	2	1	79	1	0	0	0	0	0	0	0	1	16568	1103	39	1		1	TRIM40	6	30114887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73861	30114887	141000180	7177	17494											
TRIM26	7726	broad.mit.edu	37	chr6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctccctgagatggggCggacgtctgtggtgcagctg	19	10	1	1	rs371459188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	44					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(130-132)cGc>cAc		tripartite motif containing 26		C	HIS/ARG,HIS/ARG	0,3020		0,0,1510	48	45	46		131,131	5.6	0.9	6		46	1,5417		0,1,2708	no	missense,missense	TRIM26	NM_003449.4,NM_001242783.1	29,29	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	benign,benign	44/540,44/540	30166750	1,8437	1510	2709	4219	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166750C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.131G>A	6.37:g.30166750C>T	ENSP00000410446:p.Arg44His					TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H	p.R44H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			4	567	-			44					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.131G>A	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116427	0.37339	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.265447	0.27302	N	0.019995	T	0.04634	0.0126	L	0.58354	1.805	0.38578	D	0.950108	B	0.32245	0.361	B	0.22753	0.041	T	0.32587	-0.9901	10	0.22109	T	0.4	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	44	Q12899	TRI26_HUMAN	H	44	ENSP00000391879:R44H;ENSP00000410446:R44H;ENSP00000395491:R44H;ENSP00000413673:R44H;ENSP00000387530:R44H;ENSP00000400920:R44H	ENSP00000413673:R44H	R	-	2	0	TRIM26	30274729	0.002000	0.14202	0.911000	0.35937	0.044000	0.14063	-0.183000	0.09712	2.631000	0.89168	0.643000	0.83706	CGC		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		38	205	0	0	0	1	0	38	205					T	30166750	C	T	30166750	3	4	79	1	0	0	0	0	1	0	0	0	16553	768	27	1	1516	1	TRIM26	6	30166750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51863	30166750	140948317	7178	17495											
TRIM39	56658	broad.mit.edu	37	chr6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagcttgcatcacccGctggtgggaggacctagaga	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000396547.1	+	2	324	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|HCG18_ENST00000413358.2_RNA|TRIM39-RPP21_ENST00000513556.1_5'Flank|HCG18_ENST00000412685.2_RNA|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	55					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547																																						ENST00000376659.5																			0				ovary(3)	3						c.(163-165)cGc>cAc		tripartite motif containing 39							173	158	163					6																	30297258		1509	2708	4217	SO:0001583	missense	56658							g.chr6:30297258G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.164G>A	6.37:g.30297258G>A	ENSP00000379796:p.Arg55His					TRIM39_ENST00000396547.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H	p.R55H	NM_172016.2	NP_742013.1					3	762	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.164G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782143	0.70222	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;2.18;-1.91;-1.91;-1.91;-1.91	5.15	2.36	0.29203	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	T	0.80560	0.4646	L	0.52126	1.63	0.26498	N	0.974821	D;B	0.76494	0.999;0.201	D;B	0.63192	0.912;0.064	T	0.71314	-0.4630	10	0.41790	T	0.15	.	7.3567	0.26723	0.3472:0.0:0.6528:0.0	.	55;55	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	55	ENSP00000405928:R55H;ENSP00000394768:R55H;ENSP00000379800:R55H;ENSP00000365844:R55H;ENSP00000439400:R55H;ENSP00000406019:R55H;ENSP00000379797:R55H;ENSP00000405498:R55H;ENSP00000365847:R55H;ENSP00000379796:R55H	ENSP00000365844:R55H	R	+	2	0	TRIM39	30405237	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.754000	0.32968	0.561000	0.74099	CGC		0.547	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		131	558	0	0	0	1	0	131	558					A	30297258	G	A	30297258	3	1	79	1	0	0	0	0	1	0	0	0	16566	1087	38	1	166	1	TRIM39	6	30297258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130508	30297258	140817809	7179	17496											
TRIM39	56658	broad.mit.edu	37	chr6	30309622	30309622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcaccttctacccttgCgtcctggctactgagggttt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30309622C>T	ENST00000396547.1	+	8	1303	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376659.5_Silent_p.C351C|TRIM39_ENST00000396548.1_Silent_p.C351C|TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TCTACCCTTGCGTCCTGGCTA	0.577																																						ENST00000376659.5																			0				ovary(3)	3						c.(1051-1053)tgC>tgT		tripartite motif containing 39							122	80	95					6																	30309622		1511	2708	4219	SO:0001819	synonymous_variant	56658							g.chr6:30309622C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1143C>T	6.37:g.30309622C>T						TRIM39_ENST00000396547.1_Silent_p.C381C|TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39_ENST00000396548.1_Silent_p.C351C	p.C351C	NM_172016.2	NP_742013.1					8	1651	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.1053C>T	CCDS34377.1																																																																																				0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		8	276	0	0	0	1	0	8	276					T	30309622	C	T	30309622	2	4	79	1	0	0	0	0	0	0	0	1	16566	776	27	1		1	TRIM39	6	30309622	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12364	30309622	140805445	7180	17497											
GNL1	2794	broad.mit.edu	37	chr6	30514929	30514929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggggtgttccgctgaGgggtcctcagcctctgggtg	16	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1399-1401)ccC>ccA		guanine nucleotide binding protein-like 1							94	100	98					6																	30514929		1511	2708	4219	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514929G>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1401C>A	6.37:g.30514929G>T							p.P467P	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			10	2371	-			467					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1401C>A	CCDS4680.1																																																																																				0.637	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			111	520	1	0	9.4957e-49	1	1.17268e-48	111	520					T	30514929	G	T	30514929	2	4	79	1	0	0	0	0	0	0	0	1	6564	987	35	3		3	GNL1	6	30514929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205307	30514929	140600138	7181	17498											
GNL1	2794	broad.mit.edu	37	chr6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcctctcccccgcctccGactcttcttcaagactgaga	5	19	4	2	rs542666619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(823-825)Cgg>Tgg		guanine nucleotide binding protein-like 1							85	89	88					6																	30520942		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520942G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.823C>T	6.37:g.30520942G>A	ENSP00000365806:p.Arg275Trp						p.R275W	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			7	1793	-			275					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.823C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476934	0.84640	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	5.11	5.11	0.69529	.	0.168978	0.48286	D	0.000182	T	0.57784	0.2077	M	0.71206	2.165	0.45227	D	0.998237	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66979	0.948;0.893;0.853	T	0.61501	-0.7050	10	0.62326	D	0.03	-26.8611	12.7425	0.57261	0.0:0.0:0.8354:0.1645	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	W	275;97;137	ENSP00000365806:R275W	ENSP00000365806:R275W	R	-	1	2	GNL1	30628921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.552000	0.86080	0.655000	0.94253	CGG		0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			27	647	0	0	0	1	0	27	647					A	30520942	G	A	30520942	3	1	79	1	0	0	0	0	1	0	0	0	6564	1057	37	1	1024	1	GNL1	6	30520942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6013	30520942	140594125	7182	17499											
PRR3	80742	broad.mit.edu	37	chr6	30530251	30530251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccttctaccatccaggCgtcaatggacctcctctgtg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.G161G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	182							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532																																						ENST00000376560.3																			0				lung(1)|ovary(1)	2						c.(544-546)ggC>ggT		proline rich 3							159	158	159					6																	30530251		2028	4216	6244	SO:0001819	synonymous_variant	80742						nucleic acid binding|zinc ion binding	g.chr6:30530251C>T	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.546C>T	6.37:g.30530251C>T						PRR3_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	p.G182G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN			4	1005	+			182					A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	37	c.546C>T	CCDS43440.1																																																																																				0.532	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		152	631	0	0	0	1	0	152	631					T	30530251	C	T	30530251	2	4	79	1	0	0	0	0	0	0	0	1	12645	755	27	1		1	PRR3	6	30530251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9309	30530251	140584816	7183	17500											
ABCF1	23	broad.mit.edu	37	chr6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattctctagggtggtAatgtttttgcagccctgatt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	130					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(388-390)Aat>Tat		ATP-binding cassette, sub-family F (GCN20), member 1							100	85	90					6																	30546253		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30546253A>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.388A>T	6.37:g.30546253A>T	ENSP00000313603:p.Asn130Tyr					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	p.N130Y	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			6	500	+			130					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.388A>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298034	0.81025	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.68765	1.53;0.54;0.62;-0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.77400	-0.2602	10	0.87932	D	0	-28.44	11.675	0.51424	1.0:0.0:0.0:0.0	.	130;130;130	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Y	130;130;131;131;33	ENSP00000313603:N130Y;ENSP00000365728:N130Y;ENSP00000405512:N131Y;ENSP00000440893:N33Y	ENSP00000313603:N130Y	N	+	1	0	ABCF1	30654232	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.007000	0.76335	2.084000	0.62774	0.460000	0.39030	AAT		0.478	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			42	155	0	0	0	1	0	42	155					T	30546253	A	T	30546253	3	4	79	1	0	0	0	0	1	0	0	0	65	362	13	5	410	5	ABCF1	6	30546253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16002	30546253	140568814	7184	17501											
ABCF1	23	broad.mit.edu	37	chr6	30553100	30553100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaccacctggacctcaaCgctgtcatctggcttaataa	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_ENST00000376545.3_Silent_p.N447N|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	485	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1453-1455)aaC>aaT		ATP-binding cassette, sub-family F (GCN20), member 1							216	159	179					6																	30553100		1511	2709	4220	SO:0001819	synonymous_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553100C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1455C>T	6.37:g.30553100C>T						ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	p.N485N	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			15	1567	+			485			ABC transporter 1.		A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	c.1455C>T	CCDS34380.1																																																																																				0.562	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			77	303	0	0	0	1	0	77	303					T	30553100	C	T	30553100	2	4	79	1	0	0	0	0	0	0	0	1	65	535	19	1		1	ABCF1	6	30553100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6847	30553100	140561967	7185	17502											
C6orf134	79969	broad.mit.edu	37	chr6	30610736	30610736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaccctaccgcccgcCttctgttggctgctgaccct	7	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30610736C>A	ENST00000376485.4	+	10	946	c.916C>A	c.(916-918)Ctt>Att	p.L306I	ATAT1_ENST00000329992.8_Missense_Mutation_p.L306I|ATAT1_ENST00000330083.5_Missense_Mutation_p.L294I|ATAT1_ENST00000376483.4_Missense_Mutation_p.L306I|ATAT1_ENST00000319027.5_Missense_Mutation_p.L283I|ATAT1_ENST00000318999.7_Missense_Mutation_p.L283I|ATAT1_ENST00000376478.2_Missense_Mutation_p.L283I|ATAT1_ENST00000468713.1_Intron					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TACCGCCCGCCTTCTGTTGGC	0.617																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(916-918)Ctt>Att		alpha tubulin acetyltransferase 1							77	73	74					6																	30610736		2203	4300	6503	SO:0001583	missense	79969						tubulin N-acetyltransferase activity	g.chr6:30610736C>A	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.916C>A	6.37:g.30610736C>A	ENSP00000365668:p.Leu306Ile					ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Missense_Mutation_p.L283I|ATAT1_ENST00000330083.5_Missense_Mutation_p.L294I|ATAT1_ENST00000376485.4_Missense_Mutation_p.L306I|ATAT1_ENST00000319027.5_Missense_Mutation_p.L283I|ATAT1_ENST00000318999.7_Missense_Mutation_p.L283I|ATAT1_ENST00000329992.8_Missense_Mutation_p.L306I	p.L306I			Q5SQI0	ATAT_HUMAN			10	926	+			306						Missense_Mutation	SNP	ENST00000376485.4	37	c.916C>A		.	.	.	.	.	.	.	.	.	.	c	16.51	3.142350	0.57044	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	.	.	.	5.02	5.02	0.67125	.	0.232990	0.30051	N	0.010524	T	0.45074	0.1324	L	0.43152	1.355	0.28509	N	0.913627	D;B;B;B;D;D	0.76494	0.999;0.069;0.072;0.019;0.988;0.995	P;B;B;B;P;P	0.59115	0.832;0.043;0.031;0.017;0.782;0.852	T	0.33266	-0.9875	9	0.45353	T	0.12	-13.5765	15.6136	0.76748	0.0:1.0:0.0:0.0	.	271;283;294;306;283;306	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	I	283;306;283;283;306;306;294	.	ENSP00000324222:L283I	L	+	1	0	ATAT1	30718715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.993000	0.56987	2.492000	0.84095	0.506000	0.49869	CTT		0.617	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		11	742	1	0	0.0931896	1	0.0933712	11	742					A	30610736	C	A	30610736	3	1	79	1	0	0	0	0	1	0	0	0	2337	681	24	3	954	3	C6orf134	6	30610736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57636	30610736	140504331	7186	17503											
DHX16	8449	broad.mit.edu	37	chr6	30628018	30628018	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcatccaccatcaccaCgctggggagggaataggaga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Splice_Site_p.V35M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	516	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.e10-1		DEAH (Asp-Glu-Ala-His) box polypeptide 16							103	89	94					6																	30628018		1510	2709	4219	SO:0001630	splice_region_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30628018C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1545-1G>A	6.37:g.30628018C>T						DHX16_ENST00000376437.5_Splice_Site_p.V35_splice|DHX16_ENST00000480966.1_5'UTR	p.V516_splice	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			10	1741	-			516			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Splice_Site	SNP	ENST00000376442.3	37	c.1544_splice	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660165	0.67586	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.24723	1.84;1.84	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.995;0.99;0.999	P;D;D	0.65874	0.791;0.914;0.939	T	0.65796	-0.6081	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	456;516;35	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	516;35	ENSP00000365625:V516M;ENSP00000365620:V35M	ENSP00000365620:V35M	V	-	1	0	DHX16	30735997	0.996000	0.38824	0.962000	0.40283	0.409000	0.31022	3.337000	0.52120	2.707000	0.92482	0.555000	0.69702	GTG		0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Missense_Mutation	41	209	0	0	0	1	0	41	209					T	30628018	C	T	30628018	5	4	79	1	0	0	0	0	0	0	1	0	4518	550	19	1	1623	1	DHX16	6	30628018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17282	30628018	140487049	7187	17504											
DHX16	8449	broad.mit.edu	37	chr6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccatctgtcatgtagCggaggacagttcgctctgat	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	494	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1480-1482)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							100	80	87					6																	30630467		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630467C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1481G>A	6.37:g.30630467C>T	ENSP00000365625:p.Arg494His						p.R494H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			9	1676	-			494			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1481G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663347	0.88251	.	.	ENSG00000204560	ENST00000376442	T	0.32515	1.45	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052497	0.64402	D	0.000001	T	0.29976	0.0750	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58266	0.836;0.803	T	0.09640	-1.0665	10	0.87932	D	0	.	8.0096	0.30344	0.0:0.8351:0.0:0.1648	.	434;494	B4DZ28;O60231	.;DHX16_HUMAN	H	494	ENSP00000365625:R494H	ENSP00000365625:R494H	R	-	2	0	DHX16	30738446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.861000	0.62969	2.809000	0.96659	0.555000	0.69702	CGC		0.547	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		54	203	0	0	0	1	0	54	203					T	30630467	C	T	30630467	3	4	79	1	0	0	0	0	1	0	0	0	4518	768	27	1	1692	1	DHX16	6	30630467	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2449	30630467	140484600	7188	17505											
DHX16	8449	broad.mit.edu	37	chr6	30632720	30632720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcggacggcctggAtggactctttctgctgggcc	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30632720A>C	ENST00000376442.3	-	7	1370	c.1175T>G	c.(1174-1176)aTc>aGc	p.I392S	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	392					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GACGGCCTGGATGGACTCTTT	0.567																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1174-1176)aTc>aGc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							53	54	53					6																	30632720		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632720A>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1175T>G	6.37:g.30632720A>C	ENSP00000365625:p.Ile392Ser						p.I392S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1370	-			392					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1175T>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130383	0.77549	.	.	ENSG00000204560	ENST00000376442	T	0.02656	4.21	5.18	3.97	0.46021	.	0.155354	0.56097	D	0.000025	T	0.11580	0.0282	M	0.93150	3.385	0.80722	D	1	D;D	0.63880	0.99;0.993	P;D	0.68621	0.902;0.959	T	0.00320	-1.1820	10	0.87932	D	0	.	9.3119	0.37910	0.8409:0.0:0.0:0.1591	.	332;392	B4DZ28;O60231	.;DHX16_HUMAN	S	392	ENSP00000365625:I392S	ENSP00000365625:I392S	I	-	2	0	DHX16	30740699	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.348000	0.59379	1.959000	0.56917	0.402000	0.26972	ATC		0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		6	243	0	0	0	1	0	6	243					C	30632720	A	C	30632720	3	2	79	1	0	0	0	0	1	0	0	0	4518	333	12	4	2006	4	DHX16	6	30632720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2253	30632720	140482347	7189	17506											
DHX16	8449	broad.mit.edu	37	chr6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctggcttctctgtctgCtgtttactccccctgcagcc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(457-459)caG>caT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							176	130	147					6																	30638717		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638717C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.459G>T	6.37:g.30638717C>A	ENSP00000365625:p.Gln153His						p.Q153H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			3	654	-			153					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.459G>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055593	0.19907	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65549	-0.16;1.94	4.58	2.72	0.32119	.	0.832667	0.10921	N	0.619429	T	0.18676	0.0448	N	0.08118	0	0.39635	D	0.970235	B;B	0.33841	0.428;0.428	B;B	0.17979	0.02;0.014	T	0.06058	-1.0848	10	0.39692	T	0.17	.	7.9777	0.30164	0.0:0.7938:0.0:0.2062	.	93;153	B4DZ28;O60231	.;DHX16_HUMAN	H	153;93	ENSP00000365625:Q153H;ENSP00000399101:Q93H	ENSP00000365625:Q153H	Q	-	3	2	DHX16	30746696	0.000000	0.05858	0.154000	0.22540	0.678000	0.39670	-0.331000	0.07914	1.133000	0.42147	0.454000	0.30748	CAG		0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		110	463	1	0	7.8952e-62	1	9.94632e-62	110	463					A	30638717	C	A	30638717	3	1	79	1	0	0	0	0	1	0	0	0	4518	796	28	3	2738	3	DHX16	6	30638717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5997	30638717	140476350	7190	17507											
KIAA1949	170954	broad.mit.edu	37	chr6	30647026	30647026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagctcttcctcatcCtcttcgtcgtcgggttgggc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30647026C>A	ENST00000274853.3	-	2	3628	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E584D	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	584						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTTCCTCATCCTCTTCGTCGT	0.682																																						ENST00000274853.3																			0											c.(1750-1752)gaG>gaT		protein phosphatase 1, regulatory subunit 18							42	46	45					6																	30647026		1204	2508	3712	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30647026C>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1752G>T	6.37:g.30647026C>A	ENSP00000274853:p.Glu584Asp					PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E584D	p.E584D	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			2	3628	-			584					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.1752G>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111440	0.37242	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.30448	1.53;1.53	5.08	2.32	0.28847	.	0.081829	0.46145	D	0.000306	T	0.07413	0.0187	L	0.27053	0.805	0.35065	D	0.761944	B	0.18610	0.029	B	0.17722	0.019	T	0.12451	-1.0547	10	0.39692	T	0.17	-10.213	5.4841	0.16739	0.0:0.6149:0.145:0.2401	.	584	Q6NYC8	PPR18_HUMAN	D	584	ENSP00000274853:E584D;ENSP00000382150:E584D	ENSP00000274853:E584D	E	-	3	2	KIAA1949	30755005	0.006000	0.16342	0.656000	0.29637	0.907000	0.53573	-1.980000	0.01492	0.193000	0.20303	0.650000	0.86243	GAG		0.682	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		33	268	1	0	4.74835e-14	1	5.14536e-14	33	268					A	30647026	C	A	30647026	3	1	79	1	0	0	0	0	1	0	0	0	8293	680	24	3	97	3	KIAA1949	6	30647026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8309	30647026	140468041	7191	17508											
MDC1	9656	broad.mit.edu	37	chr6	30680738	30680738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcatcagtgtcgctgtcGatgaagccaaaaggctgagc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30680738G>A	ENST00000376406.3	-	5	1628	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	327	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(979-981)atC>atT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							122	126	124					6																	30680738		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680738G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.981C>T	6.37:g.30680738G>A						MDC1_ENST00000376405.2_Silent_p.I327I|MDC1-AS1_ENST00000442150.1_RNA	p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1628	-			327			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.981C>T	CCDS34384.1																																																																																				0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		11	555	0	0	0	1	0	11	555					A	30680738	G	A	30680738	2	1	79	1	0	0	0	0	0	0	0	1	9444	1048	37	1		1	MDC1	6	30680738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33712	30680738	140434329	7192	17509											
FLOT1	8870	broad.mit.edu	37	chr6	30708465	30708465	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagttttacctggtcatcGtgaatgtccttcagagtgta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30708465G>A	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.H107H|FLOT1_ENST00000376389.3_Silent_p.H155H	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CCTGGTCATCGTGAATGTCCT	0.478																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(463-465)caC>caT		flotillin 1							194	186	189					6																	30708465		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708465G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708465G>A						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.H107H	p.H155H	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			6	685	-			155					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.465C>T	CCDS4689.1																																																																																				0.478	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			100	516	0	0	0	1	0	100	516					A	30708465	G	A	30708465	1	1	79	0	1	0	0	0	0	0	0	0	5961	1136	40	1		1	FLOT1	6	30708465	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27727	30708465	140406602	7193	17510											
FLOT1	8870	broad.mit.edu	37	chr6	30709395	30709395	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaaagcttcacctggGcaatgccagtgactgagatg	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30709395G>A	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V|FLOT1_ENST00000376389.3_Missense_Mutation_p.A69V	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CTTCACCTGGGCAATGCCAGT	0.507																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(205-207)gCc>gTc		flotillin 1							154	177	169					6																	30709395		1510	2708	4218	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30709395G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30709395G>A						FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V	p.A69V	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			4	426	-			69					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.206C>T	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818336	0.90790	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000438162;ENST00000445853;ENST00000454845	D;T;D;D;D	0.93366	-3.21;0.68;-3.21;-3.21;-3.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96272	0.9199	10	0.87932	D	0	-3.4168	15.3399	0.74287	0.0:0.0:1.0:0.0	.	69;69	B4DVY7;O75955	.;FLOT1_HUMAN	V	69	ENSP00000365569:A69V;ENSP00000394375:A69V;ENSP00000400615:A69V;ENSP00000398834:A69V;ENSP00000391341:A69V	ENSP00000365569:A69V	A	-	2	0	FLOT1	30817374	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.177000	0.94849	2.476000	0.83614	0.313000	0.20887	GCC		0.507	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			134	608	0	0	0	1	0	134	608					A	30709395	G	A	30709395	1	1	79	0	1	0	0	0	0	0	0	0	5961	1203	42	2		2	FLOT1	6	30709395	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	30709395	140405672	7194	17511											
DDR1	780	broad.mit.edu	37	chr6	30860156	30860156	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtggccctgccatggcCtgggagggggagcccatgcg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000324771.8	+	10	1484	c.936C>A	c.(934-936)gcC>gcA	p.A312A	DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000513240.1_Silent_p.A312A|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	312	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(934-936)gcC>gcA		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						35	36	36					6																	30860156		2202	4299	6501	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860156C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.936C>A	6.37:g.30860156C>A						DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A	p.A312A			Q08345	DDR1_HUMAN			10	1484	+			312					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.936C>A	CCDS34385.1																																																																																				0.687	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		65	287	1	0	6.8682e-38	1	8.26113e-38	65	287					A	30860156	C	A	30860156	2	1	79	1	0	0	0	0	0	0	0	1	4347	668	24	3		3	DDR1	6	30860156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150761	30860156	140254911	7195	17512											
DDR1	780	broad.mit.edu	37	chr6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggcggccgtgtggctcGctttctgcagtgccgcttcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000324771.8	+	10	1579	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	344	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1030-1032)cGc>cAc		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						41	48	46					6																	30860251		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860251G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1031G>A	6.37:g.30860251G>A	ENSP00000318217:p.Arg344His					DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H	p.R344H			Q08345	DDR1_HUMAN			10	1579	+			344					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.1031G>A	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557681	0.65425	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.23	4.23	0.50019	.	0.077813	0.53938	D	0.000046	T	0.34250	0.0891	M	0.72894	2.215	0.37933	D	0.93207	D;D;D;D	0.89917	0.993;1.0;0.996;0.988	P;D;P;P	0.78314	0.481;0.991;0.872;0.517	T	0.15752	-1.0426	9	.	.	.	.	14.1192	0.65175	0.0:0.0:1.0:0.0	.	362;140;344;344	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	H	344;344;344;344;344;344;344;344;362;344;344;140;75;27	ENSP00000318217:R344H;ENSP00000407699:R344H;ENSP00000406091:R344H;ENSP00000365753:R344H;ENSP00000365759:R344H;ENSP00000365754:R344H;ENSP00000365752:R344H;ENSP00000405039:R344H;ENSP00000422442:R362H;ENSP00000365751:R344H;ENSP00000427552:R344H;ENSP00000398682:R140H;ENSP00000354844:R75H	.	R	+	2	0	DDR1	30968230	0.976000	0.34144	0.987000	0.45799	0.592000	0.36648	3.524000	0.53495	1.905000	0.55150	0.462000	0.41574	CGC		0.647	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		82	372	0	0	0	1	0	82	372					A	30860251	G	A	30860251	3	1	79	1	0	0	0	0	1	0	0	0	4347	1087	38	1	1057	1	DDR1	6	30860251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	30860251	140254816	7196	17513											
DDR1	780	broad.mit.edu	37	chr6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaaacatcattcggctgCtgggcgtgtgtgtgcaggac	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000324771.8	+	17	2610	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2062-2064)Ctg>Atg		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						106	96	99					6																	30865220		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865220C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2062C>A	6.37:g.30865220C>A	ENSP00000318217:p.Leu688Met					DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M	p.L688M			Q08345	DDR1_HUMAN			17	2610	+			688			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2062C>A	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.436800|3.436800	0.62955|0.62955	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000484556|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90563	.|-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.39|5.39	2.66|2.66	0.31614|0.31614	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	.|D	.|0.90830	.|0.7120	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.89917	.|1.0;0.995;0.999;0.997;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.976;0.999;0.98;0.999	.|D	.|0.90163	.|0.4229	.|10	.|0.87932	.|D	.|0	.|.	8.9889|8.9889	0.36010|0.36010	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	.|669;152;420;694;688	.|B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	X|M	44|688;651;651;651;694;651;688;688;669;651;694;420;355	.|ENSP00000318217:L688M;ENSP00000407699:L651M;ENSP00000406091:L651M;ENSP00000365753:L651M;ENSP00000365759:L694M;ENSP00000365754:L651M;ENSP00000365752:L688M;ENSP00000405039:L688M;ENSP00000422442:L669M;ENSP00000365751:L651M;ENSP00000427552:L694M;ENSP00000398682:L420M;ENSP00000354844:L355M	.|ENSP00000318217:L688M	C|L	+|+	3|1	2|2	DDR1|DDR1	30973199|30973199	0.998000|0.998000	0.40836|0.40836	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	2.640000|2.640000	0.46579|0.46579	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	TGC|CTG		0.537	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		86	331	1	0	9.61781e-28	1	1.11524e-27	86	331					A	30865220	C	A	30865220	3	1	79	1	0	0	0	0	1	0	0	0	4347	796	28	3	2134	3	DDR1	6	30865220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4969	30865220	140249847	7197	17514											
GTF2H4	2968	broad.mit.edu	37	chr6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcccttgacaagtacgccGaggagcgatgggaggtaagc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K|GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	153					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(457-459)Gag>Aag	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							97	72	81					6																	30878524		1510	2707	4217	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30878524G>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.457G>A	6.37:g.30878524G>A	ENSP00000259895:p.Glu153Lys					GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	p.E153K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			5	680	+			153					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.457G>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774068	0.31411	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.39787	1.06;1.06;1.06	5.28	5.28	0.74379	.	0.211455	0.37261	U	0.002171	T	0.07052	0.0179	N	0.01668	-0.77	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.008;0.008	B;B;B;B	0.15870	0.014;0.01;0.014;0.014	T	0.26608	-1.0098	10	0.06099	T	0.92	-22.7534	16.4627	0.84069	0.0:0.0:1.0:0.0	.	159;97;153;153	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	K	153;97;153	ENSP00000259895:E153K;ENSP00000442700:E97K;ENSP00000365493:E153K	ENSP00000259895:E153K	E	+	1	0	GTF2H4	30986503	1.000000	0.71417	0.975000	0.42487	0.535000	0.34838	4.069000	0.57541	2.747000	0.94245	0.650000	0.86243	GAG		0.592	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		29	132	0	0	0	1	0	29	132					A	30878524	G	A	30878524	3	1	79	1	0	0	0	0	1	0	0	0	6895	1059	37	1	471	1	GTF2H4	6	30878524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13304	30878524	140236543	7198	17515											
VARS2	57176	broad.mit.edu	37	chr6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctccagggtcttcacCggtttgtggcccgggaaaag	12	10	3	0	rs200287550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R435W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	435					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGTCTTCACCGGTTTGTGGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0					ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1303-1305)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							37	40	39					6																	30888119		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30888119C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1303C>T	6.37:g.30888119C>T	ENSP00000316092:p.Arg435Trp					VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000476162.1_3'UTR	p.R435W			Q5ST30	SYVM_HUMAN			13	1935	+			435					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1303C>T	CCDS34387.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.39	3.108528	0.56291	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.95079	3.62	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71971	-0.4431	10	0.87932	D	0	-10.3179	9.9348	0.41545	0.2031:0.7968:0.0:0.0	.	433;465;435	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	435;435;295;465	ENSP00000316092:R435W;ENSP00000394802:R435W;ENSP00000438200:R295W;ENSP00000441000:R465W	ENSP00000316092:R435W	R	+	1	2	VARS2	30996098	1.000000	0.71417	0.994000	0.49952	0.450000	0.32258	2.944000	0.49034	2.104000	0.64026	0.462000	0.41574	CGG		0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		9	208	0	0	0	1	0	9	208					T	30888119	C	T	30888119	3	4	79	1	0	0	0	0	1	0	0	0	17178	643	23	1	1447	1	VARS2	6	30888119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9595	30888119	140226948	7199	17516											
VARS2	57176	broad.mit.edu	37	chr6	30890674	30890674	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttcttcctctggttgcaGaaaaaggactttcctcacgg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.e22-1		valyl-tRNA synthetase 2, mitochondrial							99	106	104					6																	30890674		1509	2708	4217	SO:0001630	splice_region_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890674G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2107-1G>T	6.37:g.30890674G>T						VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site				Q5ST30	SYVM_HUMAN			22	2738	+								A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	37		CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341551	0.61073	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4273	0.83818	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30998653	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	8.836000	0.92105	2.571000	0.86741	0.561000	0.74099	.		0.582	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	Intron	101	443	1	0	8.98033e-41	1	1.08974e-40	101	443					T	30890674	G	T	30890674	5	4	79	1	0	0	0	0	0	0	1	0	17178	956	33	3	2286	3	VARS2	6	30890674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2555	30890674	140224393	7200	17517											
DPCR1	135656	broad.mit.edu	37	chr6	30919785	30919785	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccacagagaaaaccacaAgaaccccagaaaagcctacg	6	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	DPCR1_ENST00000304311.2_Silent_p.R24R|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3544-3546)Aga>Cga		diffuse panbronchiolitis critical region 1							161	161	161					6																	30919785		2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919785A>C	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3544A>C	6.37:g.30919785A>C						DPCR1_ENST00000304311.2_Silent_p.R24R|HCG21_ENST00000419481.1_RNA	p.R1182R			Q3MIW9	DPCR1_HUMAN			2	3572	+			313					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3544A>C	CCDS4692.2																																																																																				0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		86	269	0	0	0	1	0	86	269					C	30919785	A	C	30919785	2	2	79	1	0	0	0	0	0	0	0	1	4728	64	3	4		4	DPCR1	6	30919785	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29111	30919785	140195282	7201	17518											
MUC21	394263	broad.mit.edu	37	chr6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggggccagcacagccaCcaactctgagtccagcacga	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000376296.3	+	2	1233	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	331	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(991-993)aCc>aTc		mucin 21, cell surface associated							141	141	141					6																	30954944		2202	4297	6499	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954944C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.992C>T	6.37:g.30954944C>T	ENSP00000365473:p.Thr331Ile					MUC21_ENST00000486149.2_5'UTR	p.T331I	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1233	+			331			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.992C>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431182	0.25726	.	.	ENSG00000204544	ENST00000376296	T	0.03301	3.98	4.59	1.84	0.25277	.	.	.	.	.	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.23018	0.043	T	0.47749	-0.9093	8	.	.	.	1.8137	7.8785	0.29608	0.0:0.7225:0.0:0.2775	.	331	Q5SSG8	MUC21_HUMAN	I	331	ENSP00000365473:T331I	.	T	+	2	0	MUC21	31062923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	0.272000	0.22027	-0.229000	0.12294	ACC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		267	1275	0	0	0	1	0	267	1275					T	30954944	C	T	30954944	3	4	79	1	0	0	0	0	1	0	0	0	10018	507	18	2	998	2	MUC21	6	30954944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35159	30954944	140160123	7202	17519											
C6orf15	29113	broad.mit.edu	37	chr6	31079554	31079554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagagaccagggaggGcgttgggaaaggatttttcc	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	194					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(580-582)cgC>cgT		chromosome 6 open reading frame 15							32	33	33					6																	31079554		1747	3386	5133	SO:0001819	synonymous_variant	29113							g.chr6:31079554G>A	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.582C>T	6.37:g.31079554G>A							p.R194R	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	585	-			194					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.582C>T	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		60	222	0	0	0	1	0	60	222					A	31079554	G	A	31079554	2	1	79	1	0	0	0	0	0	0	0	1	2343	1190	42	2		2	C6orf15	6	31079554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124610	31079554	140035513	7203	17520											
C6orf15	29113	broad.mit.edu	37	chr6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggaatccatggcagGcagcccccacgatggaggcc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	105					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCATGGCAGGCAGCCCCCAC	0.622																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(313-315)Cct>Tct		chromosome 6 open reading frame 15							36	37	37					6																	31079823		2202	4298	6500	SO:0001583	missense	29113							g.chr6:31079823G>A	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.313C>T	6.37:g.31079823G>A	ENSP00000259870:p.Pro105Ser						p.P105S	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	316	-			105					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.313C>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237102	0.39498	.	.	ENSG00000204542	ENST00000259870	T	0.07567	3.18	4.76	2.97	0.34412	.	0.437572	0.20015	N	0.101037	T	0.03178	0.0093	M	0.62723	1.935	0.09310	N	1	P	0.42203	0.773	B	0.35312	0.2	T	0.30995	-0.9959	10	0.59425	D	0.04	-1.3788	6.6477	0.22945	0.2097:0.0:0.7903:0.0	.	105	Q6UXA7	CF015_HUMAN	S	105	ENSP00000259870:P105S	ENSP00000259870:P105S	P	-	1	0	C6orf15	31187802	0.135000	0.22499	0.075000	0.20258	0.005000	0.04900	1.678000	0.37586	1.354000	0.45846	-0.148000	0.13756	CCT		0.622	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		14	349	0	0	0	1	0	14	349					A	31079823	G	A	31079823	3	1	79	1	0	0	0	0	1	0	0	0	2343	1203	42	2	668	2	C6orf15	6	31079823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	31079823	140035244	7204	17521											
C6orf15	29113	broad.mit.edu	37	chr6	31080049	31080049	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttctcctccacaacaccGatgctccgggcaaagaggcc	8	16	1	1	rs145694102	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	29					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(85-87)atC>atT		chromosome 6 open reading frame 15		G		0,4276		0,0,2138	87	104	98		87	1.9	0.2	6	dbSNP_134	98	2,8512		0,2,4255	no	coding-synonymous	C6orf15	NM_014070.2		0,2,6393	AA,AG,GG		0.0235,0.0,0.0156		29/326	31080049	2,12788	2138	4257	6395	SO:0001819	synonymous_variant	29113							g.chr6:31080049G>A	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.87C>T	6.37:g.31080049G>A							p.I29I	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	90	-			29					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.87C>T	CCDS4693.1																																																																																				0.557	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		74	354	0	0	0	1	0	74	354					A	31080049	G	A	31080049	2	1	79	1	0	0	0	0	0	0	0	1	2343	1048	37	1		1	C6orf15	6	31080049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	31080049	140035018	7205	17522											
CDSN	170679	broad.mit.edu	37	chr6	31083901	31083901	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggatatcccggatggaGcggcaggggatctttccagc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31083901G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.R497R|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CCCGGATGGAGCGGCAGGGGA	0.602																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1489-1491)cgC>cgT		corneodesmosin							43	44	43					6																	31083901		1809	3591	5400	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31083901G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1233G>A	6.37:g.31083901G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.R497R	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1517	-			497					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1491C>T	CCDS34390.1																																																																																				0.602	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		69	279	0	0	0	1	0	69	279					A	31083901	G	A	31083901	1	1	79	0	1	0	0	0	0	0	0	0	3188	958	34	2		2	CDSN	6	31083901	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3852	31083901	140031166	7206	17523											
CDSN	170679	broad.mit.edu	37	chr6	31084043	31084043	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaagagctggacttgCtgccacaaggctgaaggatg	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084043C>T	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S450N|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GCTGGACTTGCTGCCACAAGG	0.612																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1348-1350)aGc>aAc		corneodesmosin							40	40	40					6																	31084043		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084043C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1375C>T	6.37:g.31084043C>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S450N	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1375	-			450			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.1349G>A	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589734	0.66105	.	.	ENSG00000204539	ENST00000376288	T	0.11277	2.79	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000073	T	0.11922	0.0290	L	0.34521	1.04	0.27733	N	0.944733	D	0.67145	0.996	D	0.75484	0.986	T	0.01771	-1.1277	10	0.72032	D	0.01	-20.7062	11.9619	0.53013	0.0:1.0:0.0:0.0	.	450	Q15517	CDSN_HUMAN	N	450	ENSP00000365465:S450N	ENSP00000365465:S450N	S	-	2	0	CDSN	31192022	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.072000	0.41510	2.260000	0.74910	0.471000	0.43371	AGC		0.612	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		61	202	0	0	0	1	0	61	202					T	31084043	C	T	31084043	1	4	79	0	1	0	0	0	0	0	0	0	3188	797	28	2		2	CDSN	6	31084043	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	31084043	140031024	7207	17524											
CDSN	170679	broad.mit.edu	37	chr6	31084129	31084129	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctggtggggagcagggGctctgggaagcactgccgca	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084129G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.S421S|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGGAGCAGGGGCTCTGGGAAG	0.597																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1261-1263)agC>agT		corneodesmosin							37	41	40					6																	31084129		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084129G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1461G>A	6.37:g.31084129G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S421S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1289	-			421			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1263C>T	CCDS34390.1																																																																																				0.597	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		27	109	0	0	0	1	0	27	109					A	31084129	G	A	31084129	1	1	79	0	1	0	0	0	0	0	0	0	3188	1194	42	2		2	CDSN	6	31084129	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	31084129	140030938	7208	17525											
CDSN	170679	broad.mit.edu	37	chr6	31084238	31084238	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggtcccttggagcccGtggagccgcctccacagagc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084238G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.T385M|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CTTGGAGCCCGTGGAGCCGCC	0.632																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1153-1155)aCg>aTg		corneodesmosin							16	20	19					6																	31084238		2195	4291	6486	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084238G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1570G>A	6.37:g.31084238G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.T385M	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1180	-			385			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.1154C>T	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761562	0.31228	.	.	ENSG00000204539	ENST00000376288	T	0.05996	3.36	3.92	-2.69	0.06022	.	3.273400	0.01140	N	0.006192	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	D	0.52996	0.957	B	0.35550	0.205	T	0.36720	-0.9736	10	0.46703	T	0.11	14.5951	2.5965	0.04855	0.1111:0.1255:0.4233:0.3401	.	385	Q15517	CDSN_HUMAN	M	385	ENSP00000365465:T385M	ENSP00000365465:T385M	T	-	2	0	CDSN	31192217	0.000000	0.05858	0.000000	0.03702	0.701000	0.40568	-3.416000	0.00478	-0.269000	0.09298	0.471000	0.43371	ACG		0.632	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		4	72	0	0	0	1	0	4	72					A	31084238	G	A	31084238	1	1	79	0	1	0	0	0	0	0	0	0	3188	1145	40	1		1	CDSN	6	31084238	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109	31084238	140030829	7209	17526											
CCHCR1	54535	broad.mit.edu	37	chr6	31117930	31117930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacaccttctcccgccaGcggttcagcagggactggca	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31117930G>A	ENST00000376266.5	-	8	1130	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R	CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396268.3_Silent_p.R425R|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	336					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTCCCGCCAGCGGTTCAGCA	0.562																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1273-1275)cgC>cgT		coiled-coil alpha-helical rod protein 1							77	68	71					6																	31117930		2203	4300	6503	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31117930G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1008C>T	6.37:g.31117930G>A						CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.R336R	p.R425R	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			8	1463	-			336					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.1275C>T	CCDS4695.1																																																																																				0.562	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	246	0	0	0	1	0	7	246					A	31117930	G	A	31117930	2	1	79	1	0	0	0	0	0	0	0	1	2884	958	34	2		2	CCHCR1	6	31117930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33692	31117930	139997137	7210	17527											
CCHCR1	54535	broad.mit.edu	37	chr6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaccctcacctgcatgGtttccagaagcttctgtcgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000376266.5	-	6	949	c.827C>A	c.(826-828)aCc>aAc	p.T276N	CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T365N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	276					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1093-1095)aCc>aAc		coiled-coil alpha-helical rod protein 1							260	236	244					6																	31118509		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118509G>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.827C>A	6.37:g.31118509G>T	ENSP00000365442:p.Thr276Asn					CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.T276N	p.T365N	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			6	1282	-			276					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1094C>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.761136	0.31137	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.61	3.73	0.42828	.	0.292352	0.30244	N	0.010072	T	0.07098	0.0180	M	0.72118	2.19	0.21290	N	0.999733	D;D;D;D;D	0.67145	0.991;0.966;0.992;0.991;0.996	P;P;P;P;P	0.62740	0.898;0.773;0.906;0.898;0.892	T	0.20075	-1.0286	10	0.30854	T	0.27	-5.6321	10.5851	0.45278	0.0:0.0:0.8099:0.1901	.	276;276;276;329;365	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	N	365;276;276;276;329	ENSP00000379566:T365N;ENSP00000365442:T276N;ENSP00000379561:T276N;ENSP00000401039:T329N	ENSP00000365442:T276N	T	-	2	0	CCHCR1	31226488	0.060000	0.20803	0.615000	0.29064	0.089000	0.18198	1.653000	0.37323	0.950000	0.37743	-2.180000	0.00316	ACC		0.542	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		250	942	1	0	1.11229e-73	1	1.41635e-73	250	942					T	31118509	G	T	31118509	3	4	79	1	0	0	0	0	1	0	0	0	2884	1261	44	3	1573	3	CCHCR1	6	31118509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579	31118509	139996558	7211	17528											
TCF19	6941	broad.mit.edu	37	chr6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcctgtgttggctgcaGcatccaggctgccagggagg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000376255.4_Missense_Mutation_p.S325I|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	325					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(973-975)aGc>aTc		transcription factor 19							45	55	52					6																	31130430		1431	2650	4081	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31130430G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.974G>T	6.37:g.31130430G>T	ENSP00000365433:p.Ser325Ile					TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	p.S325I	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			4	1728	+			325					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.974G>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119860	0.77323	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.85258	-1.96;-1.96	4.85	3.96	0.45880	Zinc finger, PHD-finger (1);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);	1.639190	0.03436	N	0.208510	D	0.90184	0.6932	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81949	-0.0699	10	0.87932	D	0	-42.3361	11.364	0.49660	0.0912:0.0:0.9088:0.0	.	325	Q9Y242	TCF19_HUMAN	I	325	ENSP00000365433:S325I;ENSP00000365431:S325I	ENSP00000365431:S325I	S	+	2	0	TCF19	31238409	0.970000	0.33590	1.000000	0.80357	0.991000	0.79684	1.626000	0.37039	2.518000	0.84900	0.542000	0.68232	AGC		0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		64	263	1	0	6.2918e-36	1	7.52148e-36	64	263					T	31130430	G	T	31130430	3	4	79	1	0	0	0	0	1	0	0	0	15741	971	34	3	984	3	TCF19	6	31130430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11921	31130430	139984637	7212	17529											
BAT1	7919	broad.mit.edu	37	chr6	31498650	31498650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttggcatcattctcatcGgacacaaatgtgatagccaa	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31498650G>A	ENST00000396172.1	-	10	1806	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Silent_p.S392S|DDX39B_ENST00000417556.2_Silent_p.S407S|DDX39B_ENST00000376177.2_Missense_Mutation_p.P400L|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000415382.2_Silent_p.S314S	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	392	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CATTCTCATCGGACACAAATG	0.512																																						ENST00000376177.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1198-1200)cCg>cTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							79	79	79					6																	31498650		1511	2709	4220	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498650G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1176C>T	6.37:g.31498650G>A						DDX39B_ENST00000396172.1_Silent_p.S392S|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000417556.2_Silent_p.S407S|DDX39B_ENST00000458640.1_Silent_p.S392S|DDX39B_ENST00000415382.2_Silent_p.S314S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.P400L			Q13838	DX39B_HUMAN			9	1202	-			0			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.1199C>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290459	0.23478	.	.	ENSG00000198563	ENST00000376177;ENST00000417023	T	0.35236	1.32	4.53	-2.15	0.07102	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.21895	-1.0232	8	0.87932	D	0	-4.6826	1.7197	0.02909	0.1451:0.353:0.1557:0.3463	.	400	Q5STU3	.	L	400;156	ENSP00000365347:P400L	ENSP00000365347:P400L	P	-	2	0	DDX39B	31606629	0.001000	0.12720	0.988000	0.46212	0.873000	0.50193	-1.972000	0.01502	-0.576000	0.05974	-1.461000	0.01025	CCG		0.512	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		57	256	0	0	0	1	0	57	256					A	31498650	G	A	31498650	2	1	79	1	0	0	0	0	0	0	0	1	1319	1103	39	1		1	BAT1	6	31498650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368220	31498650	139616417	7213	17530											
BAT1	7919	broad.mit.edu	37	chr6	31499109	31499109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacggtggatggcaatgGctgggaagttctgctccact	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31499109G>A	ENST00000396172.1	-	8	1571	c.941C>T	c.(940-942)gCc>gTc	p.A314V	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.A314V|DDX39B_ENST00000417556.2_Missense_Mutation_p.A329V|DDX39B_ENST00000376177.2_Missense_Mutation_p.A314V|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000415382.2_Missense_Mutation_p.A236V	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	314	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATGGCAATGGCTGGGAAGTT	0.552																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(985-987)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							81	75	77					6																	31499109		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31499109G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.941C>T	6.37:g.31499109G>A	ENSP00000379475:p.Ala314Val					DDX39B_ENST00000376177.2_Missense_Mutation_p.A314V|DDX39B_ENST00000396172.1_Missense_Mutation_p.A314V|DDX39B_ENST00000458640.1_Missense_Mutation_p.A314V|DDX39B_ENST00000415382.2_Missense_Mutation_p.A236V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.A329V			Q13838	DX39B_HUMAN			9	1616	-			314			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.986C>T	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.115970|5.115970	0.94339|0.94339	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908|ENST00000417023	T;T;T;T;T;T|.	0.74526|.	-0.85;-0.85;-0.85;-0.85;-0.85;3.64|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.16833|0.16833	0.445|0.445	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	0.961;0.999;0.798;1.0;0.999|.	P;D;B;D;D|.	0.72075|.	0.599;0.927;0.143;0.976;0.927|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.06365|.	T|.	0.9|.	-15.1038|-15.1038	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;314;314;329;213|.	B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1|.	.;DX39B_HUMAN;.;.;.|.	V|S	314;314;314;329;236;236|78	ENSP00000365347:A314V;ENSP00000416269:A314V;ENSP00000379475:A314V;ENSP00000412582:A329V;ENSP00000392669:A236V;ENSP00000408000:A236V|.	ENSP00000365347:A314V|.	A|P	-|-	2|1	0|0	DDX39B|DDX39B	31607088|31607088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.873000|8.873000	0.92357|0.92357	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.552	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		18	418	0	0	0	1	0	18	418					A	31499109	G	A	31499109	3	1	79	1	0	0	0	0	1	0	0	0	1319	1203	42	2	361	2	BAT1	6	31499109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	31499109	139615958	7214	17531											
LTB	4050	broad.mit.edu	37	chr6	31548600	31548600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagctgcaccaggccgccGaaccccacgctcgtgtacca	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	207					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CCAGGCCGCCGAACCCCACGC	0.662																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(619-621)ttC>ttT		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)						46	30	36					6																	31548600		1510	2709	4219	SO:0001819	synonymous_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548600G>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"Tumor necrosis factor (ligand) superfamily"	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.621C>T	6.37:g.31548600G>A						LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	p.F207F	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			4	628	-			207					P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	c.621C>T	CCDS4703.1																																																																																				0.662	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			39	124	0	0	0	1	0	39	124					A	31548600	G	A	31548600	2	1	79	1	0	0	0	0	0	0	0	1	9108	1049	37	1		1	LTB	6	31548600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49491	31548600	139566467	7215	17532											
LST1	259197	broad.mit.edu	37	chr6	31555449	31555449	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggggcctggggctgggCgggctcctgcttctggcagt	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31555449C>T	ENST00000340027.5	-	0	1042				LST1_ENST00000376110.3_Intron|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000396101.3_Silent_p.G17G|LST1_ENST00000376102.3_Missense_Mutation_p.A12V|LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000418507.2_Intron|NCR3_ENST00000491161.1_5'Flank|LST1_ENST00000376089.2_Intron|LST1_ENST00000376099.1_Intron|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000376086.3_Intron|LST1_ENST00000376090.2_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000211921.7_Intron|LST1_ENST00000376096.1_Intron|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000419073.1_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3						cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TGGGGCTGGGCGGGCTCCTGC	0.622																																						ENST00000376102.3																			0				large_intestine(1)	1						c.(34-36)gCg>gTg		leukocyte specific transcript 1							12	14	13					6																	31555449		1970	4129	6099	SO:0001628	intergenic_variant	7940				cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding	g.chr6:31555449C>T	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	protein-coding gene	gene with protein product		611550	"lymphocyte antigen 117"	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123		6.37:g.31555449C>T						LST1_ENST00000376111.4_5'UTR|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000376099.1_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000376096.1_Intron|LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000211921.7_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000396101.3_Silent_p.G17G|LST1_ENST00000376089.2_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000376086.3_Intron|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000376090.2_Intron|LST1_ENST00000376110.3_Intron|LST1_ENST00000418507.2_Intron	p.A12V			O00453	LST1_HUMAN			2	151	+			0					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	c.35C>T	CCDS34397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.836292|2.836292	0.50951|0.50951	.|.	.|.	ENSG00000204482|ENSG00000204482	ENST00000376102;ENST00000490742|ENST00000464044	.|.	.|.	.|.	4.47|4.47	-6.2|-6.2	0.02072|0.02072	.|.	.|.	.|.	.|.	.|.	T|T	0.05547|0.05547	0.0146|0.0146	.|.	.|.	.|.	0.19575|0.19575	N|N	0.999963|0.999963	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26573|0.26573	-1.0099|-1.0099	5|4	0.49607|.	T|.	0.09|.	-1.2514|-1.2514	2.0882|2.0882	0.03650|0.03650	0.4647:0.2332:0.1878:0.1142|0.4647:0.2332:0.1878:0.1142	.|.	.|.	.|.	.|.	V|W	12|2	.|.	ENSP00000365270:A12V|.	A|R	+|+	2|1	0|2	LST1|LST1	31663428|31663428	0.361000|0.361000	0.24972|0.24972	0.007000|0.007000	0.13788|0.13788	0.025000|0.025000	0.11179|0.11179	-1.107000|-1.107000	0.03316|0.03316	-1.669000|-1.669000	0.01470|0.01470	-2.070000|-2.070000	0.00385|0.00385	GCG|CGG		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			9	35	0	0	0	1	0	9	35					T	31555449	C	T	31555449	1	4	79	0	1	0	0	0	0	0	0	0	9105	755	27	1		1	LST1	6	31555449	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6849	31555449	139559618	7216	17533											
BAT2	7916	broad.mit.edu	37	chr6	31590622	31590622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatggaaagaagtattcctCgctcaacctgtttgatacgt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31590622C>T	ENST00000376033.2	+	2	290	c.56C>T	c.(55-57)tCg>tTg	p.S19L	PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S19L|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	19						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGTATTCCTCGCTCAACCTG	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(55-57)tCg>tTg		proline-rich coiled-coil 2A							226	228	227					6																	31590622		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31590622C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.56C>T	6.37:g.31590622C>T	ENSP00000365201:p.Ser19Leu					PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S19L	p.S19L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			2	290	+			19					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.56C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540107	0.65085	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	BAT2, N-terminal (1);	0.000000	0.46758	D	0.000280	T	0.40979	0.1139	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31110	-0.9955	10	0.87932	D	0	-7.4656	17.0393	0.86484	0.0:1.0:0.0:0.0	.	19	P48634	PRC2A_HUMAN	L	19	ENSP00000365175:S19L;ENSP00000365201:S19L	ENSP00000365175:S19L	S	+	2	0	PRRC2A	31698601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.315000	0.78998	2.548000	0.85928	0.650000	0.86243	TCG		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		87	924	0	0	0	1	0	87	924					T	31590622	C	T	31590622	3	4	79	1	0	0	0	0	1	0	0	0	1320	893	31	1	58	1	BAT2	6	31590622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35173	31590622	139524445	7217	17534											
BAT2	7916	broad.mit.edu	37	chr6	31595695	31595695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcgcatgcaagaagagCgccgggcagcctgtgctgag	17	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31595695C>T	ENST00000376033.2	+	12	1678	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R482C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	482	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAAGAAGAGCGCCGGGCAGC	0.632																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1444-1446)Cgc>Tgc		proline-rich coiled-coil 2A							78	88	84					6																	31595695		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595695C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1444C>T	6.37:g.31595695C>T	ENSP00000365201:p.Arg482Cys					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R482C	p.R482C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1678	+			482			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1444C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465879	0.26335	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.16073	2.37;2.37	4.38	4.38	0.52667	.	0.000000	0.49305	D	0.000154	T	0.28699	0.0711	M	0.67397	2.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.01643	-1.1305	10	0.87932	D	0	-8.4093	11.4533	0.50167	0.1804:0.8196:0.0:0.0	.	482	P48634	PRC2A_HUMAN	C	482;471;482;482	ENSP00000365175:R482C;ENSP00000365201:R482C	ENSP00000365175:R482C	R	+	1	0	PRRC2A	31703674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.351000	0.34022	2.453000	0.82957	0.561000	0.74099	CGC		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		164	645	0	0	0	1	0	164	645					T	31595695	C	T	31595695	3	4	79	1	0	0	0	0	1	0	0	0	1320	768	27	1	1486	1	BAT2	6	31595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5073	31595695	139519372	7218	17535											
BAT2	7916	broad.mit.edu	37	chr6	31599424	31599424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataaccaaggggaagctaGggggccccaaggagacccca	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31599424G>A	ENST00000376033.2	+	16	3208	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G992R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	992	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGAAGCTAGGGGGCCCCAA	0.572																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2974-2976)Ggg>Agg		proline-rich coiled-coil 2A							16	19	18					6																	31599424		1499	2704	4203	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599424G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2974G>A	6.37:g.31599424G>A	ENSP00000365201:p.Gly992Arg					PRRC2A_ENST00000376007.4_Missense_Mutation_p.G992R	p.G992R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3208	+			992			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2974G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	0.231	-1.020760	0.02061	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01887	4.58;4.58	3.45	3.45	0.39498	.	0.113381	0.40064	N	0.001181	T	0.00754	0.0025	L	0.27053	0.805	0.33162	D	0.547171	B	0.33694	0.421	B	0.26864	0.074	T	0.51608	-0.8684	10	0.87932	D	0	-6.8984	8.5475	0.33430	0.116:0.0:0.884:0.0	.	992	P48634	PRC2A_HUMAN	R	992;981;992;992;217	ENSP00000365175:G992R;ENSP00000365201:G992R	ENSP00000365175:G992R	G	+	1	0	PRRC2A	31707403	0.914000	0.31030	0.720000	0.30636	0.063000	0.16089	3.322000	0.52007	1.784000	0.52394	0.563000	0.77884	GGG		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		35	130	0	0	0	1	0	35	130					A	31599424	G	A	31599424	3	1	79	1	0	0	0	0	1	0	0	0	1320	1000	35	2	3032	2	BAT2	6	31599424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3729	31599424	139515643	7219	17536											
BAT2	7916	broad.mit.edu	37	chr6	31601175	31601175	+	Frame_Shift_Del	DEL	C	C	-													gtcgtcctccagaggagcgtCccccggggcttcccctgcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31601175delC	ENST00000376033.2	+	17	4573	c.4339delC	c.(4339-4341)cccfs	p.P1448fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1448fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1448	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGGAGCGTCCCCCGGGGCT	0.542																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4339-4341)ccfs		proline-rich coiled-coil 2A							56	64	61					6																	31601175		1509	2708	4217	SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31601175delC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4339delC	6.37:g.31601175delC	ENSP00000365201:p.Pro1448fs					PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1448fs	p.P1448fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			17	4573	+			1448			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	ENST00000376033.2	37	c.4339delC	CCDS4708.1																																																																																				0.542	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		47	450						47	450	---	---	---	---	-	31601175	C	-	31601175	7	5	79	1	0	1	0	1	0	0	0	0	1320	855	30	0	4401	0	BAT2	6	31601175	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	1751	31601175	139513892	7220	17537											
BAT3	7917	broad.mit.edu	37	chr6	31609612	31609612	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtggaagaaggatcGcagctggggctggagccgtt	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31609612G>A	ENST00000375964.6	-	16	2669	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	BAG6_ENST00000404765.2_Nonsense_Mutation_p.R816*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R780*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	786					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2446-2448)Cga>Tga		BCL2-associated athanogene 6							96	110	105					6																	31609612		1510	2709	4219	SO:0001587	stop_gained	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31609612G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2356C>T	6.37:g.31609612G>A	ENSP00000365131:p.Arg786*					BAG6_ENST00000375964.6_Nonsense_Mutation_p.R786*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R780*	p.R816*			P46379	BAG6_HUMAN			17	2735	-			786					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Nonsense_Mutation	SNP	ENST00000375964.6	37	c.2446C>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	39	7.478227	0.98309	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	.	.	.	5.58	5.58	0.84498	.	0.558485	0.17189	N	0.183569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9859	0.53147	0.0:0.0:0.7226:0.2774	.	.	.	.	X	780;786;780;816;654;780	.	ENSP00000211379:R780X	R	-	1	2	BAG6	31717591	0.291000	0.24352	0.998000	0.56505	0.969000	0.65631	0.977000	0.29475	2.649000	0.89929	0.650000	0.86243	CGA		0.562	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		119	578	0	0	0	1	0	119	578					A	31609612	G	A	31609612	4	1	79	1	0	0	0	0	0	1	0	0	1323	1095	38	1	1082	1	BAT3	6	31609612	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8437	31609612	139505455	7221	17538											
C6orf47	57827	broad.mit.edu	37	chr6	31626860	31626860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacagcccctttcccgggtCtcccctctgctcctcacctt	5	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	ENST00000375911.1	-	1	1689	c.865G>A	c.(865-867)Gac>Aac	p.D289N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	289						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTTCCCGGGTCTCCCCTCTGC	0.602																																						ENST00000375911.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(865-867)Gac>Aac		chromosome 6 open reading frame 47							87	94	92					6																	31626860		1509	2708	4217	SO:0001583	missense	57827							g.chr6:31626860C>T	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.865G>A	6.37:g.31626860C>T	ENSP00000365076:p.Asp289Asn					C6orf47-AS1_ENST00000422049.1_RNA	p.D289N	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN			1	1689	-			289					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.865G>A	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377454	0.42105	.	.	ENSG00000204439	ENST00000375911	T	0.34275	1.37	5.57	4.7	0.59300	.	0.204062	0.28365	N	0.015617	T	0.13072	0.0317	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.03287	-1.1052	10	0.31617	T	0.26	-4.1094	10.8769	0.46917	0.0:0.9103:0.0:0.0897	.	289	O95873	CF047_HUMAN	N	289	ENSP00000365076:D289N	ENSP00000365076:D289N	D	-	1	0	C6orf47	31734839	0.081000	0.21417	0.951000	0.38953	0.913000	0.54294	1.516000	0.35856	2.633000	0.89246	0.650000	0.86243	GAC		0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		31	668	0	0	0	1	0	31	668					T	31626860	C	T	31626860	3	4	79	1	0	0	0	0	1	0	0	0	2371	913	32	2	23	2	C6orf47	6	31626860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17248	31626860	139488207	7222	17539											
BAT4	7918	broad.mit.edu	37	chr6	31630466	31630466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcacagttctcgcagtaCtggagggagggagtaggaga	17	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31630466C>T	ENST00000375906.1	-	4	1332	c.648G>A	c.(646-648)caG>caA	p.Q216Q	C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375893.2_Silent_p.Q216Q|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Silent_p.Q216Q|GPANK1_ENST00000375900.4_Silent_p.Q216Q|GPANK1_ENST00000375896.4_Silent_p.Q216Q|C6orf47_ENST00000375911.1_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	216							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTCGCAGTACTGGAGGGAGG	0.567																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(646-648)caG>caA		G patch domain and ankyrin repeats 1							53	60	57					6																	31630466		1510	2698	4208	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31630466C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.648G>A	6.37:g.31630466C>T						GPANK1_ENST00000375893.2_Silent_p.Q216Q|GPANK1_ENST00000375896.4_Silent_p.Q216Q|GPANK1_ENST00000375900.4_Silent_p.Q216Q|GPANK1_ENST00000375895.2_Silent_p.Q216Q	p.Q216Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1332	-			216					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.648G>A	CCDS4711.1																																																																																				0.567	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		58	250	0	0	0	1	0	58	250					T	31630466	C	T	31630466	2	4	79	1	0	0	0	0	0	0	0	1	1324	564	20	2		2	BAT4	6	31630466	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3606	31630466	139484601	7223	17540											
BAT5	7920	broad.mit.edu	37	chr6	31658380	31658380	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctcacagcagatcacCtaggaaggaggcaggaagga	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31658380C>A	ENST00000395952.3	-	10	1006		c.e10-1		ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site|ABHD16A_ENST00000471644.1_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_Splice_Site	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A							integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAGATCACCTAGGAAGGAG	0.592																																						ENST00000461287.1																			0											c.e12-1									84	78	80					6																	31658380		1508	2707	4215	SO:0001630	splice_region_variant	0							g.chr6:31658380C>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.844-1G>T	6.37:g.31658380C>A						ABHD16A_ENST00000395952.3_Splice_Site|ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site								12	1248	-								A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Splice_Site	SNP	ENST00000395952.3	37		CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	9.244	1.038973	0.19669	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3423	0.60551	0.1591:0.8409:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD16A	31766359	1.000000	0.71417	0.970000	0.41538	0.004000	0.04260	6.745000	0.74860	1.261000	0.44149	-0.169000	0.13324	.		0.592	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4		Intron	65	306	1	0	3.07184e-27	1	3.5546e-27	65	306					A	31658380	C	A	31658380	5	1	79	1	0	0	0	0	0	0	1	0	1325	695	24	3	877	3	BAT5	6	31658380	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27914	31658380	139456687	7224	17541											
BAT5	7920	broad.mit.edu	37	chr6	31659391	31659391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcagctgtcccccgccGgtccacaaacatggtgtcaa	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31659391G>A	ENST00000395952.3	-	9	970	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ABHD16A_ENST00000440843.2_Missense_Mutation_p.R237W|ABHD16A_ENST00000375842.4_Missense_Mutation_p.R51W|ABHD16A_ENST00000471644.1_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GTCCCCCGCCGGTCCACAAAC	0.597																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(151-153)Cgg>Tgg		abhydrolase domain containing 16A							62	57	59					6																	31659391		1510	2709	4219	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31659391G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.808C>T	6.37:g.31659391G>A	ENSP00000379282:p.Arg270Trp					ABHD16A_ENST00000395952.3_Missense_Mutation_p.R270W|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R237W	p.R51W			O95870	ABHGA_HUMAN			9	1137	-			270					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.151C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546342	0.96488	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78937	-0.2007	9	0.62326	D	0.03	-28.2409	17.3305	0.87262	0.0:0.0:1.0:0.0	.	237;270	B7Z4R6;O95870	.;ABHGA_HUMAN	W	270;51;237	.	ENSP00000365002:R51W	R	-	1	2	ABHD16A	31767370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.502000	0.73695	2.763000	0.94921	0.650000	0.86243	CGG		0.597	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			39	168	0	0	0	1	0	39	168					A	31659391	G	A	31659391	3	1	79	1	0	0	0	0	1	0	0	0	1325	1115	39	1	916	1	BAT5	6	31659391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1011	31659391	139455676	7225	17542											
LY6G6F	259215	broad.mit.edu	37	chr6	31675894	31675894	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgactcacaacaaaggggTcagctttagcctggcaggta	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31675894T>A	ENST00000375832.4	+	3	651	c.629T>A	c.(628-630)gTc>gAc	p.V210D	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.V210D|MEGT1_ENST00000503322.1_Missense_Mutation_p.V210D	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						AACAAAGGGGTCAGCTTTAGC	0.567																																						ENST00000503322.1																			0											c.(628-630)gTc>gAc									106	119	114					6																	31675894		1509	2708	4217	SO:0001583	missense	0							g.chr6:31675894T>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.629T>A	6.37:g.31675894T>A	ENSP00000364992:p.Val210Asp					LY6G6F_ENST00000556581.1_Missense_Mutation_p.V210D|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.V210D	p.V210D							3	632	+								B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.629T>A	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589956	0.46214	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.22539	2.23;1.95;2.23	5.21	5.21	0.72293	.	0.662303	0.13873	N	0.356877	T	0.18964	0.0455	L	0.51422	1.61	0.45914	D	0.998755	D;P	0.55385	0.971;0.94	P;P	0.50440	0.641;0.564	T	0.01757	-1.1280	10	0.87932	D	0	-7.2332	11.4678	0.50249	0.0:0.0:0.0:1.0	.	210;210	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	D	210	ENSP00000452432:V210D;ENSP00000364992:V210D;ENSP00000421232:V210D	ENSP00000364992:V210D	V	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783873	0.993000	0.37304	0.998000	0.56505	0.997000	0.91878	3.459000	0.53021	1.978000	0.57642	0.482000	0.46254	GTC		0.567	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		41	569	0	0	0	1	0	41	569					A	31675894	T	A	31675894	3	1	79	1	0	0	0	0	1	0	0	0	9135	1667	58	5	639	5	LY6G6F	6	31675894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16503	31675894	139439173	7226	17543											
C6orf27	80737	broad.mit.edu	37	chr6	31734467	31734467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggatgacgtgggagaAatgcggctgaggatccccag	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734467A>C	ENST00000375688.4	-	14	2157	c.1957T>G	c.(1957-1959)Ttc>Gtc	p.F653V	VWA7_ENST00000375686.3_Missense_Mutation_p.F653V|VWA7_ENST00000447450.1_Missense_Mutation_p.F646C|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	653						extracellular region (GO:0005576)											ACGTGGGAGAAATGCGGCTGA	0.642																																						ENST00000375686.3																			0											c.(1957-1959)Ttc>Gtc		von Willebrand factor A domain containing 7							66	76	72					6																	31734467		1508	2708	4216	SO:0001583	missense	80737					extracellular region		g.chr6:31734467A>C		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1957T>G	6.37:g.31734467A>C	ENSP00000364840:p.Phe653Val					VWA7_ENST00000447450.1_Missense_Mutation_p.F646C|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.F653V	p.F653V	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			14	2194	-			653					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1957T>G	CCDS4721.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.261429|2.261429	0.39995|0.39995	.|.	.|.	ENSG00000204396|ENSG00000204396	ENST00000447450|ENST00000375688;ENST00000375686	T|T;T	0.34072|0.15256	1.38|2.65;2.44	4.95|4.95	3.79|3.79	0.43588|0.43588	.|.	0.220091|0.220091	0.38548|0.38548	N|N	0.001645|0.001645	T|T	0.03783|0.03783	0.0107|0.0107	L|L	0.29908|0.29908	0.895|0.895	0.23351|0.23351	N|N	0.997856|0.997856	.|P	.|0.48294	.|0.908	.|B	.|0.41412	.|0.356	T|T	0.27905|0.27905	-1.0060|-1.0060	8|10	0.56958|0.16896	D|T	0.05|0.51	-25.5297|-25.5297	5.8942|5.8942	0.18929|0.18929	0.8813:0.0:0.1187:0.0|0.8813:0.0:0.1187:0.0	.|.	.|653	.|Q9Y334	.|G7C_HUMAN	C|V	646|653	ENSP00000390554:F646C|ENSP00000364840:F653V;ENSP00000364838:F653V	ENSP00000390554:F646C|ENSP00000364838:F653V	F|F	-|-	2|1	0|0	C6orf27|C6orf27	31842446|31842446	0.975000|0.975000	0.34042|0.34042	0.967000|0.967000	0.41034|0.41034	0.455000|0.455000	0.32408|0.32408	2.531000|2.531000	0.45650|0.45650	2.073000|2.073000	0.62155|0.62155	0.460000|0.460000	0.39030|0.39030	TTT|TTC		0.642	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		73	384	0	0	0	1	0	73	384					C	31734467	A	C	31734467	3	2	79	1	0	0	0	0	1	0	0	0	2369	14	1	4	733	4	C6orf27	6	31734467	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58573	31734467	139380600	7227	17544											
C6orf27	80737	broad.mit.edu	37	chr6	31734988	31734988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggtccatcctccatgGggatcccaaagtggaagagg	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734988G>A	ENST00000375688.4	-	13	2029	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	VWA7_ENST00000375686.3_Missense_Mutation_p.P610L|VWA7_ENST00000447450.1_Missense_Mutation_p.P610L|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	610						extracellular region (GO:0005576)											ATCCTCCATGGGGATCCCAAA	0.562																																						ENST00000375686.3																			0											c.(1828-1830)cCc>cTc		von Willebrand factor A domain containing 7							30	28	29					6																	31734988		2203	4299	6502	SO:0001583	missense	80737					extracellular region		g.chr6:31734988G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1829C>T	6.37:g.31734988G>A	ENSP00000364840:p.Pro610Leu					VWA7_ENST00000447450.1_Missense_Mutation_p.P610L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P610L	p.P610L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			13	2066	-			610					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1829C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787692	0.49997	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.30981	2.72;2.5;1.51	5.74	5.74	0.90152	.	0.133595	0.50627	D	0.000118	T	0.14141	0.0342	L	0.34521	1.04	0.09310	N	0.999998	B	0.25609	0.13	B	0.27715	0.082	T	0.05784	-1.0864	10	0.51188	T	0.08	-11.2464	15.4883	0.75584	0.0:0.0:1.0:0.0	.	610	Q9Y334	G7C_HUMAN	L	610	ENSP00000364840:P610L;ENSP00000364838:P610L;ENSP00000390554:P610L	ENSP00000364838:P610L	P	-	2	0	C6orf27	31842967	0.609000	0.26975	0.046000	0.18839	0.915000	0.54546	4.425000	0.59875	2.722000	0.93159	0.555000	0.69702	CCC		0.562	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		16	63	0	0	0	1	0	16	63					A	31734988	G	A	31734988	3	1	79	1	0	0	0	0	1	0	0	0	2369	1232	43	2	865	2	C6orf27	6	31734988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	521	31734988	139380079	7228	17545											
C6orf27	80737	broad.mit.edu	37	chr6	31735240	31735240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagaactgcccaaagCggcgagtgtgacctagagga	12	12	0	3	rs371873796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31735240C>T	ENST00000375688.4	-	12	1888	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	VWA7_ENST00000375686.3_Missense_Mutation_p.R563H|VWA7_ENST00000447450.1_Missense_Mutation_p.R563H|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	563						extracellular region (GO:0005576)											CTGCCCAAAGCGGCGAGTGTG	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15034	0.0		0.0	False		,,,				2504	0.0					ENST00000375686.3																			0											c.(1687-1689)cGc>cAc		von Willebrand factor A domain containing 7		C	HIS/ARG	0,3022		0,0,1511	83	89	87		1688	2.3	0.5	6		87	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	29	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	563/892	31735240	1,8439	1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31735240C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1688G>A	6.37:g.31735240C>T	ENSP00000364840:p.Arg563His					VWA7_ENST00000447450.1_Missense_Mutation_p.R563H|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.R563H	p.R563H	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			12	1925	-			563					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1688G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300019	0.23650	0.0	1.85E-4	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.31510	2.7;2.48;1.49	5.04	2.32	0.28847	.	0.757532	0.12563	N	0.457977	T	0.09024	0.0223	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32348	-0.9910	10	0.48119	T	0.1	-0.848	7.0157	0.24887	0.0:0.7186:0.0:0.2814	.	563	Q9Y334	G7C_HUMAN	H	563	ENSP00000364840:R563H;ENSP00000364838:R563H;ENSP00000390554:R563H	ENSP00000364838:R563H	R	-	2	0	C6orf27	31843219	0.013000	0.17824	0.504000	0.27639	0.619000	0.37552	1.234000	0.32660	0.312000	0.23038	-0.291000	0.09656	CGC		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		109	394	0	0	0	1	0	109	394					T	31735240	C	T	31735240	3	4	79	1	0	0	0	0	1	0	0	0	2369	768	27	1	1010	1	C6orf27	6	31735240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252	31735240	139379827	7229	17546											
VARS	7407	broad.mit.edu	37	chr6	31749480	31749480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacacacctggttgggccaGcccaaaatggataaggggaa	13	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	802					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2404-2406)ggC>ggA		valyl-tRNA synthetase	L-Valine(DB00161)						42	45	44					6																	31749480		1509	2708	4217	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749480G>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2406C>A	6.37:g.31749480G>T						VARS_ENST00000482996.1_5'UTR	p.G802G	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			20	2846	-			802					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2406C>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569406	0.13560	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	3.61	0.41365	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	4	.	.	.	-24.8287	13.7946	0.63164	0.0:0.0:0.712:0.288	.	.	.	.	M	120	.	.	L	-	1	2	VARS	31857459	0.970000	0.33590	1.000000	0.80357	0.791000	0.44710	-0.035000	0.12205	1.333000	0.45449	0.655000	0.94253	CTG		0.607	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		46	255	1	0	8.94452e-30	1	1.0468e-29	46	255					T	31749480	G	T	31749480	2	4	79	1	0	0	0	0	0	0	0	1	17177	958	34	3		3	VARS	6	31749480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14240	31749480	139365587	7230	17547											
VARS	7407	broad.mit.edu	37	chr6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcctccgcctcattgcGtccactcacccagtaccgcc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2272-2274)Cgc>Tgc		valyl-tRNA synthetase	L-Valine(DB00161)						126	144	138					6																	31749699		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749699G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2272C>T	6.37:g.31749699G>A	ENSP00000364815:p.Arg758Cys					VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	p.R758C	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			19	2712	-			758					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2272C>T	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.928076|1.928076	0.34002|0.34002	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.22743|.	1.94|.	5.51|5.51	4.62|4.62	0.57501|0.57501	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.162696|.	0.52532|.	D|.	0.000074|.	D|D	0.82527|0.82527	0.5056|0.5056	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.87932|.	D|.	0|.	-15.5475|-15.5475	13.9063|13.9063	0.63839|0.63839	0.0:0.1538:0.8462:0.0|0.0:0.1538:0.8462:0.0	.|.	758|.	P26640|.	SYVC_HUMAN|.	C|M	758|75	ENSP00000364815:R758C|.	ENSP00000364815:R758C|.	R|T	-|-	1|2	0|0	VARS|VARS	31857678|31857678	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.703000|0.703000	0.40648|0.40648	1.445000|1.445000	0.35079|0.35079	1.290000|1.290000	0.44636|0.44636	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		185	871	0	0	0	1	0	185	871					A	31749699	G	A	31749699	3	1	79	1	0	0	0	0	1	0	0	0	17177	1145	40	1	1570	1	VARS	6	31749699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219	31749699	139365368	7231	17548											
HSPA1A	3303	broad.mit.edu	37	chr6	31785396	31785396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcccgggcctgggggCttcggggctcagggtcccaa	19	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1A_ENST00000608703.1_Silent_p.G456G|HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	621					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1861-1863)ggC>ggT		heat shock 70kDa protein 1A							59	66	64					6																	31785396		1735	3531	5266	SO:0001819	synonymous_variant	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785396C>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1863C>T	6.37:g.31785396C>T						HSPA1A_ENST00000458062.2_Silent_p.G530G	p.G621G	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN			1	2106	+			621					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	c.1863C>T	CCDS34414.1																																																																																				0.587	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			98	436	0	0	0	1	0	98	436					T	31785396	C	T	31785396	2	4	79	1	0	0	0	0	0	0	0	1	7438	784	28	2		2	HSPA1A	6	31785396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35697	31785396	139329671	7232	17549											
SLC44A4	80736	broad.mit.edu	37	chr6	31832662	31832662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccgggatgcgaccGgagaaaaaaaagaaggacag	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000229729.6	-	19	1877	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SLC44A4_ENST00000544672.1_Silent_p.S543S|SLC44A4_ENST00000375562.4_Silent_p.S577S|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	619					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1627-1629)tcC>tcT		solute carrier family 44, member 4	Choline(DB00122)						33	41	38					6																	31832662		2203	4300	6503	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832662G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1857C>T	6.37:g.31832662G>A						SLC44A4_ENST00000375562.4_Silent_p.S577S|SLC44A4_ENST00000229729.6_Silent_p.S619S	p.S543S	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			19	1925	-			619					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1629C>T	CCDS4724.2																																																																																				0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			35	152	0	0	0	1	0	35	152					A	31832662	G	A	31832662	2	1	79	1	0	0	0	0	0	0	0	1	14688	1103	39	1		1	SLC44A4	6	31832662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47266	31832662	139282405	7233	17550											
EHMT2	10919	broad.mit.edu	37	chr6	31851172	31851172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggatgctgagctggccGcacaggcagttggagctaga	15	11	0	2	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000375537.4	-	23	2967	c.2961C>T	c.(2959-2961)tgC>tgT	p.C987C	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2_ENST00000395728.3_Silent_p.C1044C|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	987	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAGCTGGCCGCACAGGCAGT	0.632													G|||	6	0.00119808	0.0	0.0043	5008	,	,		20855	0.0		0.003	False		,,,				2504	0.0					ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3130-3132)tgC>tgT		euchromatic histone-lysine N-methyltransferase 2		G	,	0,3018		0,0,1509	51	39	43		2961,2859	-9	0.7	6	dbSNP_134	43	8,5410		0,8,2701	yes	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,8,4210	AA,AG,GG		0.1477,0.0,0.0948	,	987/1211,953/1177	31851172	8,8428	1509	2709	4218	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31851172G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2961C>T	6.37:g.31851172G>A						EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.C987C|EHMT2_ENST00000375530.4_Silent_p.C953C	p.C1044C			Q96KQ7	EHMT2_HUMAN			22	3131	-			987			SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3132C>T	CCDS4725.1																																																																																				0.632	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		11	121	0	0	0	1	0	11	121					A	31851172	G	A	31851172	2	1	79	1	0	0	0	0	0	0	0	1	5000	1079	38	1		1	EHMT2	6	31851172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18510	31851172	139263895	7234	17551											
EHMT2	10919	broad.mit.edu	37	chr6	31852264	31852264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccacacgtcggagcgctcGggagtcaggtcccatgctgt	13	13	1	0	rs147102570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852264G>A	ENST00000375537.4	-	21	2682	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2_ENST00000395728.3_Silent_p.P949P|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	892					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGAGCGCTCGGGAGTCAGGT	0.597																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2845-2847)ccC>ccT		euchromatic histone-lysine N-methyltransferase 2		G	,	1,3021		0,1,1510	152	146	148		2676,2574	-10.3	0	6	dbSNP_134	148	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	,	892/1211,858/1177	31852264	1,8439	1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852264G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2676C>T	6.37:g.31852264G>A						EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.P892P|EHMT2_ENST00000375530.4_Silent_p.P858P	p.P949P			Q96KQ7	EHMT2_HUMAN			20	2846	-			892					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.2847C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	0.890	-0.725741	0.03158	3.31E-4	0.0	ENSG00000204371	ENST00000436026	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.35661	D	0.812562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.10416	0.1643:0.257:0.4425:0.1362	.	.	.	.	X	223	.	.	R	-	1	2	EHMT2	31960243	0.000000	0.05858	0.024000	0.17045	0.110000	0.19582	-7.061000	0.00045	-4.452000	0.00048	-1.219000	0.01604	CGA		0.597	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		18	836	0	0	0	1	0	18	836					A	31852264	G	A	31852264	2	1	79	1	0	0	0	0	0	0	0	1	5000	1103	39	1		1	EHMT2	6	31852264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1092	31852264	139262803	7235	17552											
EHMT2	10919	broad.mit.edu	37	chr6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccgcgtcagtagcatgCggatcacctcgatgtgcttg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000375537.4	-	19	2411	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2_ENST00000395728.3_Missense_Mutation_p.R859H|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	802					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGTAGCATGCGGATCACCTC	0.657																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2575-2577)cGc>cAc		euchromatic histone-lysine N-methyltransferase 2							75	62	67					6																	31852732		2203	4300	6503	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852732C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2405G>A	6.37:g.31852732C>T	ENSP00000364687:p.Arg802His					EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.R802H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H	p.R859H			Q96KQ7	EHMT2_HUMAN			18	2575	-			802					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2576G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548211	0.86127	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.064020	0.64402	D	0.000011	T	0.49525	0.1562	L	0.55481	1.735	0.46981	D	0.999273	P;P;P;P	0.47350	0.894;0.87;0.894;0.743	B;B;B;B	0.41571	0.189;0.119;0.273;0.36	T	0.60969	-0.7157	10	0.66056	D	0.02	.	16.003	0.80308	0.0:1.0:0.0:0.0	.	825;768;802;616	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	859;825;768;802;616	ENSP00000379078:R859H;ENSP00000364678:R825H;ENSP00000364680:R768H;ENSP00000364687:R802H	ENSP00000364678:R825H	R	-	2	0	EHMT2	31960711	0.397000	0.25270	1.000000	0.80357	0.993000	0.82548	0.769000	0.26604	2.382000	0.81193	0.650000	0.86243	CGC		0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		32	263	0	0	0	1	0	32	263					T	31852732	C	T	31852732	3	4	79	1	0	0	0	0	1	0	0	0	5000	768	27	1	1267	1	EHMT2	6	31852732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	31852732	139262335	7236	17553											
EHMT2	10919	broad.mit.edu	37	chr6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggtcccctttcgtcaggGtcacttctcctgaacgccgg	12	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000375537.4	-	7	755	c.749C>T	c.(748-750)aCc>aTc	p.T250I	EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I|EHMT2_ENST00000395728.3_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	250					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(919-921)aCc>aTc		euchromatic histone-lysine N-methyltransferase 2							57	53	55					6																	31860299		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31860299G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.749C>T	6.37:g.31860299G>A	ENSP00000364687:p.Thr250Ile					EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I	p.T307I			Q96KQ7	EHMT2_HUMAN			6	919	-			250			Poly-Glu.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.920C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873501	0.33069	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.46;-0.45;-0.41;-0.47	4.88	3.07	0.35406	.	0.284204	0.25581	N	0.029689	T	0.24431	0.0592	N	0.08118	0	0.26303	N	0.97794	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.14868	-1.0457	10	0.32370	T	0.25	.	6.3179	0.21200	0.3064:0.0:0.6936:0.0	.	307;250;250;64	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	307;307;250;250;64	ENSP00000379078:T307I;ENSP00000364678:T307I;ENSP00000364680:T250I;ENSP00000364687:T250I	ENSP00000364678:T307I	T	-	2	0	EHMT2	31968278	0.149000	0.22717	1.000000	0.80357	0.835000	0.47333	0.373000	0.20484	0.758000	0.33059	0.591000	0.81541	ACC		0.542	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		49	245	0	0	0	1	0	49	245					A	31860299	G	A	31860299	3	1	79	1	0	0	0	0	1	0	0	0	5000	1261	44	2	2971	2	EHMT2	6	31860299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7567	31860299	139254768	7237	17554											
C2	717	broad.mit.edu	37	chr6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctgctgttcctgtacCcaggtaggaggcagggaagg	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000299367.5	+	1	319	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CFB_ENST00000456570.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	15					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GTTCCTGTACCCAGGTAGGAG	0.567																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(43-45)Cca>Aca		complement factor B							199	231	219					6																	31895572		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31895572C>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.43C>A	6.37:g.31895572C>A	ENSP00000299367:p.Pro15Thr					C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|C2_ENST00000418949.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron	p.P15T			P00751	CFAB_HUMAN			1	98	+			0					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.43C>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069252	0.55539	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;D;T;T;D;D;D	0.87103	1.47;-1.43;-2.21;1.29;1.3;-1.57;-1.57;-1.55	5.75	2.86	0.33363	.	0.403728	0.18365	N	0.143459	T	0.49983	0.1589	.	.	.	0.80722	D	1	B;B;B;B;B	0.27853	0.0;0.001;0.001;0.0;0.191	B;B;B;B;B	0.29267	0.001;0.002;0.002;0.002;0.1	T	0.54302	-0.8314	9	0.02654	T	1	-0.4943	5.4073	0.16328	0.1386:0.6258:0.1515:0.0841	.	15;15;15;15;15	B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;CO2_HUMAN;.	T	15	ENSP00000403325:P15T;ENSP00000299367:P15T;ENSP00000395683:P15T;ENSP00000391354:P15T;ENSP00000406190:P15T;ENSP00000451848:P15T;ENSP00000410815:P15T;ENSP00000418996:P15T	ENSP00000299367:P15T	P	+	1	0	CFB;C2;XXbac-BPG116M5.17	32003551	0.474000	0.25886	0.999000	0.59377	0.723000	0.41478	0.451000	0.21779	0.804000	0.34136	-0.122000	0.15005	CCA		0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			203	1068	1	0	3.78394e-68	1	4.79673e-68	203	1068					A	31895572	C	A	31895572	3	1	79	1	0	0	0	0	1	0	0	0	2081	623	22	3	122	3	C2	6	31895572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35273	31895572	139219495	7238	17555											
C2	717	broad.mit.edu	37	chr6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgggactaacacctatgCggccttaaacagtgtctatc	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000299367.5	+	8	1298	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CFB_ENST00000456570.1_Missense_Mutation_p.A188V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AACACCTATGCGGCCTTAAAC	0.478																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(562-564)gCg>gTg		complement factor B							179	174	176					6																	31905129		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31905129C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1022C>T	6.37:g.31905129C>T	ENSP00000299367:p.Ala341Val					C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000299367.5_Missense_Mutation_p.A341V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000452323.2_Missense_Mutation_p.A127V	p.A188V			P00751	CFAB_HUMAN			5	618	+			357			Sushi 3.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.563C>T	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527494|1.527494	0.27299|0.27299	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	D;D;D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	4.97|4.97	-0.3|-0.3	0.12804|0.12804	von Willebrand factor, type A (3);|.	1.092690|.	0.07188|.	N|.	0.855182|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B|.	0.35363|.	0.497;0.21;0.103;0.028;0.094;0.094;0.031;0.103|.	B;B;B;B;B;B;B;B|.	0.28139|.	0.036;0.008;0.012;0.007;0.012;0.012;0.086;0.005|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.46703|.	T|.	0.11|.	-4.707|-4.707	6.1284|6.1284	0.20192|0.20192	0.376:0.4561:0.168:0.0|0.376:0.4561:0.168:0.0	.|.	188;312;127;95;209;209;341;128|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;CO2_HUMAN;.|.	V|W	95;128;128;127;341;26;209;188;188;159|115	ENSP00000418923:A95V;ENSP00000417482:A128V;ENSP00000392322:A127V;ENSP00000299367:A341V;ENSP00000395683:A209V;ENSP00000451848:A188V;ENSP00000410815:A188V;ENSP00000418996:A159V|.	ENSP00000299367:A341V|.	A|R	+|+	2|1	0|2	CFB;C2;XXbac-BPG116M5.17|C2	32013108|32013108	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.018000|0.018000	0.13422|0.13422	0.073000|0.073000	0.16731|0.16731	-0.433000|-0.433000	0.05886|0.05886	GCG|CGG		0.478	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			91	510	0	0	0	1	0	91	510					T	31905129	C	T	31905129	3	4	79	1	0	0	0	0	1	0	0	0	2081	768	27	1	1129	1	C2	6	31905129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9557	31905129	139209938	7239	17556											
CFB	629	broad.mit.edu	37	chr6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagcgatctgtgacaacgGaggtgagaagcatcccctcc	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000425368.2	+	3	995	c.482G>A	c.(481-483)gGa>gAa	p.G161E	CFB_ENST00000456570.1_Missense_Mutation_p.G663E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	161					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1987-1989)gGa>gAa		complement factor B							59	63	62					6																	31914967		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914967G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.482G>A	6.37:g.31914967G>A	ENSP00000416561:p.Gly161Glu					CFB_ENST00000425368.2_Missense_Mutation_p.G161E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E	p.G663E			P00751	CFAB_HUMAN			15	2043	+			161			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.1988G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511718	0.64522	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;T;D;T	0.81579	-1.51;-1.4;-1.51;-1.47	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000239	D	0.83505	0.5269	L	0.43646	1.37	0.43678	D	0.996116	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-13.6748	16.3637	0.83296	0.0:0.0:1.0:0.0	.	663;161;161	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	E	663;161;663;512	ENSP00000451848:G663E;ENSP00000416561:G161E;ENSP00000410815:G663E;ENSP00000418996:G512E	ENSP00000416561:G161E	G	+	2	0	CFB;XXbac-BPG116M5.17	32022946	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.102000	0.64572	2.404000	0.81709	0.655000	0.94253	GGA		0.597	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		69	307	0	0	0	1	0	69	307					A	31914967	G	A	31914967	3	1	79	1	0	0	0	0	1	0	0	0	3287	1174	41	2	492	2	CFB	6	31914967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9838	31914967	139200100	7240	17557											
RDBP	7936	broad.mit.edu	37	chr6	31920095	31920095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctagaagccatccacaaGgttttccttgtagacgtcat	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31920095G>A	ENST00000375429.3	-	11	1352	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	NELFE_ENST00000375425.5_Missense_Mutation_p.L383F|NELFE_ENST00000444811.2_Missense_Mutation_p.L346F	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	376					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCATCCACAAGGTTTTCCTTG	0.522																																						ENST00000375429.3																			0											c.(1126-1128)Ctt>Ttt		negative elongation factor complex member E							134	111	119					6																	31920095		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31920095G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.1126C>T	6.37:g.31920095G>A	ENSP00000364578:p.Leu376Phe					NELFE_ENST00000444811.2_Missense_Mutation_p.L346F|NELFE_ENST00000375425.5_Missense_Mutation_p.L383F	p.L376F	NM_002904.5	NP_002895.3					11	1352	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.1126C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733648	0.69189	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811	T;T;T	0.50277	0.76;0.75;0.75	6.07	6.07	0.98685	.	0.270209	0.25735	N	0.028642	T	0.41558	0.1164	N	0.08118	0	0.37638	D	0.921935	D;D	0.71674	0.995;0.998	D;D	0.75484	0.969;0.986	T	0.55952	-0.8059	10	0.87932	D	0	-10.5148	16.144	0.81551	0.0:0.0:1.0:0.0	.	346;376	B4DUN1;P18615	.;NELFE_HUMAN	F	376;383;346	ENSP00000364578:L376F;ENSP00000364574:L383F;ENSP00000388400:L346F	ENSP00000364574:L383F	L	-	1	0	RDBP	32028074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.292000	0.51772	2.884000	0.98904	0.655000	0.94253	CTT		0.522	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			52	218	0	0	0	1	0	52	218					A	31920095	G	A	31920095	3	1	79	1	0	0	0	0	1	0	0	0	13238	1000	35	2	20	2	RDBP	6	31920095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5128	31920095	139194972	7241	17558											
RDBP	7936	broad.mit.edu	37	chr6	31922863	31922863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagatttcctctggggaCgtctggatgactgtaaaaga	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31922863C>T	ENST00000375429.3	-	6	603	c.377G>A	c.(376-378)cGt>cAt	p.R126H	NELFE_ENST00000375425.5_Missense_Mutation_p.R133H|NELFE_ENST00000444811.2_Missense_Mutation_p.R126H|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	126					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTCTGGGGACGTCTGGATGA	0.458																																						ENST00000375429.3																			0											c.(376-378)cGt>cAt		negative elongation factor complex member E							93	100	97					6																	31922863		1511	2709	4220	SO:0001583	missense	7936							g.chr6:31922863C>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.377G>A	6.37:g.31922863C>T	ENSP00000364578:p.Arg126His					NELFE_ENST00000444811.2_Missense_Mutation_p.R126H|NELFE_ENST00000375425.5_Missense_Mutation_p.R133H	p.R126H	NM_002904.5	NP_002895.3					6	603	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.377G>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	c	19.40	3.819864	0.71028	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T;T;T	0.42131	1.47;1.47;1.47;0.98;1.47;0.98	5.79	4.93	0.64822	.	0.061417	0.64402	N	0.000010	T	0.40595	0.1123	L	0.32530	0.975	0.40364	D	0.979274	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;D;P	0.69654	0.893;0.965;0.948;0.893	T	0.36407	-0.9749	10	0.42905	T	0.14	-3.5668	14.0431	0.64689	0.0:0.9268:0.0:0.0732	.	126;126;126;126	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	H	126;133;126;126;126;126;126	ENSP00000364578:R126H;ENSP00000364574:R133H;ENSP00000388400:R126H;ENSP00000397914:R126H;ENSP00000409389:R126H;ENSP00000414029:R126H	ENSP00000364574:R133H	R	-	2	0	RDBP	32030842	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	4.743000	0.62110	1.478000	0.48253	-0.119000	0.15052	CGT		0.458	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			58	321	0	0	0	1	0	58	321					T	31922863	C	T	31922863	3	4	79	1	0	0	0	0	1	0	0	0	13238	536	19	1	789	1	RDBP	6	31922863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2768	31922863	139192204	7242	17559											
SKIV2L	6499	broad.mit.edu	37	chr6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacttcgcccatcaaggccCtgagcaaccagaagttccgg	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1093-1095)Ctg>Atg		superkiller viralicidic activity 2-like (S. cerevisiae)							85	76	79					6																	31930244		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930244C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1093C>A	6.37:g.31930244C>A	ENSP00000364543:p.Leu365Met					SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	p.L365M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1206	+			365			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1093C>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753928	0.69648	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47528	0.84;0.84	5.49	3.7	0.42460	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.76428	0.3986	H	0.99806	4.795	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.81581	-0.0867	10	0.87932	D	0	-11.2948	8.7438	0.34573	0.0:0.7618:0.0:0.2382	.	365	Q15477	SKIV2_HUMAN	M	365;207;172	ENSP00000364543:L365M;ENSP00000442645:L172M	ENSP00000364543:L365M	L	+	1	2	SKIV2L	32038223	0.423000	0.25482	0.999000	0.59377	0.996000	0.88848	1.010000	0.29898	0.678000	0.31325	0.655000	0.94253	CTG		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			64	266	1	0	9.65139e-37	1	1.15646e-36	64	266					A	31930244	C	A	31930244	3	1	79	1	0	0	0	0	1	0	0	0	14409	680	24	3	1135	3	SKIV2L	6	31930244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7381	31930244	139184823	7243	17560											
SKIV2L	6499	broad.mit.edu	37	chr6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtacagctgcatccggaGgcctcctgcctcatcatgac	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	392	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1174-1176)gaG>gaT		superkiller viralicidic activity 2-like (S. cerevisiae)							60	56	57					6																	31930327		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930327G>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1176G>T	6.37:g.31930327G>T	ENSP00000364543:p.Glu392Asp					SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	p.E392D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1289	+			392			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1176G>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958804	0.34565	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	-0.429	0.12303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056470	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05280	-0.08	0.40523	D	0.980855	B	0.13145	0.007	B	0.10450	0.005	T	0.03249	-1.1056	10	0.21014	T	0.42	-25.6916	2.1569	0.03814	0.409:0.1223:0.3444:0.1242	.	392	Q15477	SKIV2_HUMAN	D	392;234;199	ENSP00000364543:E392D;ENSP00000442645:E199D	ENSP00000364543:E392D	E	+	3	2	SKIV2L	32038306	0.883000	0.30277	0.870000	0.34147	0.700000	0.40528	-0.036000	0.12185	-0.014000	0.14175	-0.345000	0.07892	GAG		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			49	206	1	0	6.31075e-24	1	7.19376e-24	49	206					T	31930327	G	T	31930327	3	4	79	1	0	0	0	0	1	0	0	0	14409	991	35	3	1218	3	SKIV2L	6	31930327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	31930327	139184740	7244	17561											
SKIV2L	6499	broad.mit.edu	37	chr6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgagatggcagacctgCaccgcatgatgatggtgagc	14	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	730	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2188-2190)Cac>Tac		superkiller viralicidic activity 2-like (S. cerevisiae)							20	17	18					6																	31933776		1506	2707	4213	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31933776C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2188C>T	6.37:g.31933776C>T	ENSP00000364543:p.His730Tyr					SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	p.H730Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			18	2301	+			730			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2188C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910495	0.92107	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.17278	0.47	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.37549	-0.9701	10	0.62326	D	0.03	-23.8527	17.9769	0.89130	0.0:1.0:0.0:0.0	.	730	Q15477	SKIV2_HUMAN	Y	730;572;537	ENSP00000364543:H730Y;ENSP00000442645:H537Y	ENSP00000364543:H730Y	H	+	1	0	SKIV2L	32041755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.427000	0.73378	2.545000	0.85829	0.655000	0.94253	CAC		0.622	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			24	92	0	0	0	1	0	24	92					T	31933776	C	T	31933776	3	4	79	1	0	0	0	0	1	0	0	0	14409	710	25	2	2258	2	SKIV2L	6	31933776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3449	31933776	139181291	7245	17562											
SKIV2L	6499	broad.mit.edu	37	chr6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccctgtcaatgacctgCagctcaaagatatgtcagtt	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	989					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2965-2967)Cag>Gag		superkiller viralicidic activity 2-like (S. cerevisiae)							62	75	70					6																	31936211		1509	2707	4216	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936211C>G		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2965C>G	6.37:g.31936211C>G	ENSP00000364543:p.Gln989Glu					SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	p.Q989E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			24	3078	+			989					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2965C>G	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878536	0.33162	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46451	0.99;0.87	5.14	5.14	0.70334	.	0.164519	0.56097	D	0.000030	T	0.32406	0.0828	L	0.50333	1.59	0.37894	D	0.930823	P	0.43542	0.81	B	0.43478	0.421	T	0.09796	-1.0658	10	0.37606	T	0.19	-22.6152	17.7336	0.88386	0.0:1.0:0.0:0.0	.	989	Q15477	SKIV2_HUMAN	E	989;831;796	ENSP00000364543:Q989E;ENSP00000442645:Q796E	ENSP00000364543:Q989E	Q	+	1	0	SKIV2L	32044190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.549000	0.85964	0.655000	0.94253	CAG		0.632	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			91	452	0	0	0	1	0	91	452					G	31936211	C	G	31936211	3	3	79	1	0	0	0	0	1	0	0	0	14409	711	25	5	3059	5	SKIV2L	6	31936211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	31936211	139178856	7246	17563											
TNXB	7148	broad.mit.edu	37	chr6	32016159	32016159	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtcctggcctccacaggGactgggccgtggcgtttccc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.V3340V			P22105	TENX_HUMAN	tenascin XB	3387	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCCACAGGGACTGGGCCGT	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10024-10026)gtC>gtT		tenascin XB							23	28	26					6																	32016159		1965	4132	6097	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016159G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10026C>T	6.37:g.32016159G>A						TNXB_ENST00000375247.2_Silent_p.V3340V	p.V3342V			P22105	TENX_HUMAN			29	10227	-			3387			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10026C>T																																																																																					0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		31	122	0	0	0	1	0	31	122					A	32016159	G	A	32016159	2	1	79	1	0	0	0	0	0	0	0	1	16398	1161	41	2		2	TNXB	6	32016159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79948	32016159	139098908	7247	17564											
TNXB	7148	broad.mit.edu	37	chr6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtccaaagagcaggaActtgtacttgcgggccgggt	15	9	0	1	rs548583752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L			P22105	TENX_HUMAN	tenascin XB	3373	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGAGCAGGAACTTGTACTTG	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9982-9984)Ttc>Ctc		tenascin XB							25	30	28					6																	32016203		1953	4119	6072	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016203A>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9982T>C	6.37:g.32016203A>G	ENSP00000364393:p.Phe3328Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L	p.F3328L			P22105	TENX_HUMAN			29	10183	-			3373			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9982T>C		.	.	.	.	.	.	.	.	.	.	A	17.37	3.372198	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59906	0.23;0.23	4.34	4.34	0.51931	.	0.724493	0.12437	N	0.469004	T	0.39963	0.1098	M	0.67700	2.07	0.26896	N	0.967218	P	0.41131	0.739	B	0.40901	0.343	T	0.25984	-1.0116	10	0.38643	T	0.18	.	9.0473	0.36354	0.8142:0.1858:0.0:0.0	.	3326	P22105-3	.	L	3328;3326	ENSP00000364393:F3328L;ENSP00000364396:F3326L	ENSP00000364393:F3328L	F	-	1	0	TNXB	32124181	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	2.749000	0.47492	1.819000	0.53055	0.402000	0.26972	TTC		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		23	143	0	0	0	1	0	23	143					G	32016203	A	G	32016203	3	3	79	1	0	0	0	0	1	0	0	0	16398	43	2	4	4801	4	TNXB	6	32016203	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	32016203	139098864	7248	17565											
TNXB	7148	broad.mit.edu	37	chr6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccgggcccacgcgccGcccctcgtggaggccataca	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7456-7458)Cgg>Tgg		tenascin XB							104	120	115					6																	32029210		1315	2567	3882	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029210G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7456C>T	6.37:g.32029210G>A	ENSP00000364393:p.Arg2486Trp					TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W	p.R2486W			P22105	TENX_HUMAN			21	7657	-			2546			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7456C>T		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	TNXB	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		37	871	0	0	0	1	0	37	871					A	32029210	G	A	32029210	3	1	79	1	0	0	0	0	1	0	0	0	16398	1086	38	1	7353	1	TNXB	6	32029210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13007	32029210	139085857	7249	17566											
TNXB	7148	broad.mit.edu	37	chr6	32036330	32036330	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctccattcctgtactgGaccaggaagtggtcaaactg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB	2101	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6055-6057)gtC>gtT		tenascin XB							42	45	44					6																	32036330		2006	4171	6177	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036330G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6057C>T	6.37:g.32036330G>A						TNXB_ENST00000375247.2_Silent_p.V2019V	p.V2019V			P22105	TENX_HUMAN			17	6258	-			2101			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.6057C>T																																																																																					0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		38	183	0	0	0	1	0	38	183					A	32036330	G	A	32036330	2	1	79	1	0	0	0	0	0	0	0	1	16398	1161	41	2		2	TNXB	6	32036330	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7120	32036330	139078737	7250	17567											
TNXB	7148	broad.mit.edu	37	chr6	32052335	32052335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctggggctgcccGtccctgtctttgtactggat	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB	1187	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGCCCGTCCCTGTCTT	0.617																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3298-3300)gaC>gaT		tenascin XB							34	38	36					6																	32052335		1347	2574	3921	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32052335G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3300C>T	6.37:g.32052335G>A						TNXB_ENST00000375247.2_Silent_p.D1100D	p.D1100D			P22105	TENX_HUMAN			8	3501	-			1187			Fibronectin type-III 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.3300C>T																																																																																					0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	144	0	0	0	1	0	17	144					A	32052335	G	A	32052335	2	1	79	1	0	0	0	0	0	0	0	1	16398	1136	40	1		1	TNXB	6	32052335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16005	32052335	139062732	7251	17568											
TNXB	7148	broad.mit.edu	37	chr6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatagcccacgtggcacAggcacactccttgcacacac	8	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000479795.1	-	3	2143	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375244.3_Missense_Mutation_p.L668P|TNXB_ENST00000375247.2_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB	668	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTGGCACAGGCACACTCC	0.721																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2002-2004)cTg>cCg		tenascin XB							15	17	17					6																	32063627		2129	4234	6363	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063627A>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2003T>C	6.37:g.32063627A>G	ENSP00000418248:p.Leu668Pro					TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000479795.1_Missense_Mutation_p.L668P	p.L668P			P22105	TENX_HUMAN			3	2204	-			668			EGF-like 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.2003T>C		.	.	.	.	.	.	.	.	.	.	A	10.66	1.413962	0.25465	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.07688	3.88;3.88;3.17	4.25	1.74	0.24563	.	1.326850	0.05510	N	0.560107	T	0.09818	0.0241	M	0.72894	2.215	0.39173	D	0.962636	P	0.52692	0.955	P	0.54312	0.748	T	0.26815	-1.0092	10	0.72032	D	0.01	.	4.641	0.12548	0.6523:0.1657:0.182:0.0	.	668	P22105-3	.	P	668	ENSP00000364393:L668P;ENSP00000364396:L668P;ENSP00000418248:L668P	ENSP00000364393:L668P	L	-	2	0	TNXB	32171605	0.197000	0.23362	0.133000	0.22050	0.015000	0.08874	2.669000	0.46825	0.178000	0.19917	-0.460000	0.05396	CTG		0.721	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		18	103	0	0	0	1	0	18	103					G	32063627	A	G	32063627	3	3	79	1	0	0	0	0	1	0	0	0	16398	188	7	4	12878	4	TNXB	6	32063627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11292	32063627	139051440	7252	17569											
TNXB	7148	broad.mit.edu	37	chr6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagcctgggtcacacaCgcagcgcccaccctcacagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000479795.1	-	3	933	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375244.3_Missense_Mutation_p.V265M|TNXB_ENST00000375247.2_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB	265	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACACACGCAGCGCCCA	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(793-795)Gtg>Atg		tenascin XB							44	51	48					6																	32064837		2188	4273	6461	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064837C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.793G>A	6.37:g.32064837C>T	ENSP00000418248:p.Val265Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000479795.1_Missense_Mutation_p.V265M	p.V265M			P22105	TENX_HUMAN			3	994	-			265			EGF-like 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.793G>A		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585053	0.28268	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;3.12	4.57	2.75	0.32379	.	0.466924	0.15993	N	0.234727	T	0.21227	0.0511	M	0.89095	3.005	0.23501	N	0.997549	D	0.89917	1.0	D	0.87578	0.998	T	0.04664	-1.0935	10	0.72032	D	0.01	.	7.1375	0.25537	0.0:0.7045:0.0:0.2955	.	265	P22105-3	.	M	265	ENSP00000364393:V265M;ENSP00000364396:V265M;ENSP00000418248:V265M	ENSP00000364393:V265M	V	-	1	0	TNXB	32172815	0.012000	0.17670	1.000000	0.80357	0.078000	0.17371	0.141000	0.16076	0.912000	0.36772	-0.140000	0.14226	GTG		0.667	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		32	151	0	0	0	1	0	32	151					T	32064837	C	T	32064837	3	4	79	1	0	0	0	0	1	0	0	0	16398	536	19	1	14088	1	TNXB	6	32064837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	32064837	139050230	7253	17570											
ATF6B	1388	broad.mit.edu	37	chr6	32095235	32095235	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctgggaagatcggcagGagttcccatgggggctcaga	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375203.3	-	3	266	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ATF6B_ENST00000375201.4_Silent_p.L75L|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	78	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGATCGGCAGGAGTTCCCATG	0.522																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(223-225)ctC>ctT		activating transcription factor 6 beta							33	34	34					6																	32095235		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32095235G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.234C>T	6.37:g.32095235G>A						ATF6B_ENST00000375203.3_Silent_p.L78L|ATF6B_ENST00000468502.1_5'UTR	p.L75L			Q99941	ATF6B_HUMAN			3	270	-			78			Transcription activation.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.225C>T	CCDS4737.1																																																																																				0.522	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			12	157	0	0	0	1	0	12	157					A	32095235	G	A	32095235	2	1	79	1	0	0	0	0	0	0	0	1	1086	1161	41	2		2	ATF6B	6	32095235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30398	32095235	139019832	7254	17571											
ATF6B	1388	broad.mit.edu	37	chr6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaatctcgctgagcaGcatcagctccgccatctttc	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375203.3	-	1	48	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000375201.4_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	6	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(16-18)Ctg>Atg		activating transcription factor 6 beta							60	57	58					6																	32095969		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32095969G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.16C>A	6.37:g.32095969G>T	ENSP00000364349:p.Leu6Met					ATF6B_ENST00000375203.3_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	p.L6M			Q99941	ATF6B_HUMAN			1	61	-			6			Transcription activation.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.16C>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780204	0.90195	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.64803	-0.12;0.61	5.36	5.36	0.76844	.	0.415062	0.18475	U	0.140117	T	0.71517	0.3349	M	0.64997	1.995	0.35380	D	0.789878	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.74315	-0.3705	10	0.72032	D	0.01	-16.4553	14.4499	0.67376	0.0:0.0:1.0:0.0	.	6;6;6	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	M	6	ENSP00000364349:L6M;ENSP00000364347:L6M	ENSP00000364338:L6M	L	-	1	2	ATF6B	32203947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.789000	0.95967	0.655000	0.94253	CTG		0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			56	249	1	0	3.88204e-17	1	4.28066e-17	56	249					T	32095969	G	T	32095969	3	4	79	1	0	0	0	0	1	0	0	0	1086	962	34	3	2167	3	ATF6B	6	32095969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	734	32095969	139019098	7255	17572											
PPT2	9374	broad.mit.edu	37	chr6	32130344	32130344	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccccaaatctctttgtaGcttctttggtttctatgatg	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	ENST00000324816.6	+	8	1278		c.e8-1		PPT2-EGFL8_ENST00000422437.1_Splice_Site|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000395523.1_Splice_Site|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2						cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTCTTTGTAGCTTCTTTGGT	0.542																																						ENST00000422437.1																			0											c.e8-1									158	176	170					6																	32130344		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr6:32130344G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.711-1G>A	6.37:g.32130344G>A						PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000324816.6_Splice_Site								8	901	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37		CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307831	0.81247	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32238322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.851000	0.75425	2.685000	0.91497	0.655000	0.94253	.		0.542	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Intron	55	1459	0	0	0	1	0	55	1459					A	32130344	G	A	32130344	5	1	79	1	0	0	0	0	0	0	1	0	12459	985	34	2	758	2	PPT2	6	32130344	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34375	32130344	138984723	7256	17573											
PPT2	9374	broad.mit.edu	37	chr6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccttgaaggtttatcTgcgggattcttttgggttga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	PPT2-EGFL8_ENST00000422437.1_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000453656.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	258					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562																																						ENST00000324816.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(772-774)cTg>cCg		palmitoyl-protein thioesterase 2							108	117	114					6																	32130591		2203	4300	6503	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130591T>C	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.773T>C	6.37:g.32130591T>C	ENSP00000320528:p.Leu258Pro					PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron	p.L258P			Q9UMR5	PPT2_HUMAN			9	1341	+			258					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.773T>C	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258556	0.59321	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	.	0.080153	0.51477	D	0.000092	D	0.95140	0.8425	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57324	0.752;0.818	D	0.94354	0.7582	10	0.35671	T	0.21	-8.3285	12.5588	0.56269	0.0:0.0:0.0:1.0	.	258;264	Q9UMR5;B0S872	PPT2_HUMAN;.	P	264;258;258;258;258	ENSP00000354608:L264P;ENSP00000378894:L258P;ENSP00000320528:L258P;ENSP00000364279:L258P;ENSP00000364285:L258P	ENSP00000320528:L258P	L	+	2	0	PPT2	32238569	0.929000	0.31497	0.997000	0.53966	0.988000	0.76386	2.341000	0.43983	2.210000	0.71456	0.533000	0.62120	CTG		0.562	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		113	885	0	0	0	1	0	113	885					C	32130591	T	C	32130591	3	2	79	1	0	0	0	0	1	0	0	0	12459	1580	55	4	825	4	PPT2	6	32130591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247	32130591	138984476	7257	17574											
AGPAT1	10554	broad.mit.edu	37	chr6	32137097	32137097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatagtcaccaccaccccGgccatcagtggagatttccc	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32137097G>A	ENST00000395499.1	-	7	1387	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	270					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCACCACCCCGGCCATCAGTG	0.612																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(808-810)Cgg>Tgg		1-acylglycerol-3-phosphate O-acyltransferase 1							99	97	98					6																	32137097		1510	2709	4219	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32137097G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.808C>T	6.37:g.32137097G>A	ENSP00000378877:p.Arg270Trp					AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR	p.R270W			Q99943	PLCA_HUMAN			7	1387	-			270					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.808C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880842	0.51801	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.6	1.37	0.22104	.	0.564260	0.17429	N	0.174560	T	0.80003	0.4544	L	0.29908	0.895	0.29476	N	0.856724	P;D;P	0.56287	0.623;0.975;0.857	B;B;B	0.37422	0.165;0.249;0.165	T	0.72571	-0.4253	10	0.72032	D	0.01	-8.6565	12.9503	0.58397	0.0:0.0:0.3832:0.6168	.	234;160;270	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	W	270;270;270;270;270;270;158	ENSP00000378874:R270W;ENSP00000364248:R270W;ENSP00000378877:R270W;ENSP00000364245:R270W;ENSP00000378875:R270W;ENSP00000337463:R270W;ENSP00000410473:R158W	ENSP00000337463:R270W	R	-	1	2	AGPAT1	32245075	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.210000	0.20664	0.561000	0.74099	CGG		0.612	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		8	473	0	0	0	1	0	8	473					A	32137097	G	A	32137097	3	1	79	1	0	0	0	0	1	0	0	0	386	1115	39	1	47	1	AGPAT1	6	32137097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6506	32137097	138977970	7258	17575											
AGPAT1	10554	broad.mit.edu	37	chr6	32138808	32138808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctccactcggatcccGtacaggtatttgatgtggag	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32138808G>A	ENST00000395499.1	-	3	819	c.240C>T	c.(238-240)taC>taT	p.Y80Y	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	80					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGGATCCCGTACAGGTATT	0.567																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(238-240)taC>taT		1-acylglycerol-3-phosphate O-acyltransferase 1							104	98	100					6																	32138808		1510	2708	4218	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138808G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.240C>T	6.37:g.32138808G>A						AGPAT1_ENST00000395497.1_Silent_p.Y80Y|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron	p.Y80Y			Q99943	PLCA_HUMAN			3	819	-			80					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.240C>T	CCDS4744.1																																																																																				0.567	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		12	449	0	0	0	1	0	12	449					A	32138808	G	A	32138808	2	1	79	1	0	0	0	0	0	0	0	1	386	1140	40	1		1	AGPAT1	6	32138808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1711	32138808	138976259	7259	17576											
AGER	177	broad.mit.edu	37	chr6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactgaggaccagcaCccaggctccaactgctgttc	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	11					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(31-33)Gtg>Atg		advanced glycosylation end product-specific receptor							71	47	55					6																	32151969		1511	2709	4220	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151969C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.31G>A	6.37:g.32151969C>T	ENSP00000364217:p.Val11Met					AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M	p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			1	132	-			11					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.31G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648675	0.29336	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.67	1.38	0.22167	.	0.482456	0.17591	N	0.168765	T	0.17789	0.0427	N	0.14661	0.345	0.80722	D	1	B;B;D;B;P;P;D;B;B;P;P;B	0.69078	0.36;0.055;0.997;0.36;0.5;0.633;0.996;0.36;0.156;0.5;0.831;0.027	B;B;D;B;B;B;D;B;B;B;B;B	0.78314	0.09;0.063;0.991;0.09;0.09;0.184;0.986;0.09;0.063;0.111;0.284;0.046	T	0.11518	-1.0584	10	0.51188	T	0.08	-4.4117	4.2601	0.10737	0.1736:0.6105:0.0:0.2159	.	11;11;11;11;11;11;11;11;11;11;11;11	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	M	11;11;11;42;11;11;11;11;11;11	ENSP00000364208:V11M;ENSP00000364195:V11M;ENSP00000364217:V11M;ENSP00000364211:V42M;ENSP00000387887:V11M;ENSP00000364206:V11M;ENSP00000398466:V11M;ENSP00000364196:V11M;ENSP00000445389:V11M	ENSP00000364195:V11M	V	-	1	0	AGER	32259947	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.350000	0.20079	0.452000	0.26830	0.655000	0.94253	GTG		0.627	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		20	131	0	0	0	1	0	20	131					T	32151969	C	T	32151969	3	4	79	1	0	0	0	0	1	0	0	0	379	507	18	2	1256	2	AGER	6	32151969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13161	32151969	138963098	7260	17577											
NOTCH4	4855	broad.mit.edu	37	chr6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacggaccaagtccgagCctgcagacaagctccgcccc	10	17	1	1	rs564772335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1879					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTCCGAGCCTGCAGACAA	0.716																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5635-5637)Gct>Act		notch 4							9	11	10					6																	32163591		1480	2647	4127	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163591C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5635G>A	6.37:g.32163591C>T	ENSP00000364163:p.Ala1879Thr					NOTCH4_ENST00000443903.2_3'UTR	p.A1879T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5773	-			1879					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5635G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700137	0.48307	.	.	ENSG00000204301	ENST00000375023	D	0.81908	-1.55	4.01	1.18	0.20946	.	0.398940	0.18440	N	0.141164	T	0.46405	0.1391	N	0.24115	0.695	0.19575	N	0.999962	P;B	0.43477	0.808;0.011	B;B	0.35353	0.201;0.007	T	0.46386	-0.9195	10	0.62326	D	0.03	.	3.5542	0.07858	0.1977:0.5916:0.0:0.2108	.	1879;1878	Q99466;B0S882	NOTC4_HUMAN;.	T	1879	ENSP00000364163:A1879T	ENSP00000364163:A1879T	A	-	1	0	NOTCH4	32271569	0.046000	0.20272	0.001000	0.08648	0.016000	0.09150	0.250000	0.18235	0.105000	0.17753	0.455000	0.32223	GCT		0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			25	100	0	0	0	1	0	25	100					T	32163591	C	T	32163591	3	4	79	1	0	0	0	0	1	0	0	0	10593	739	26	2	380	2	NOTCH4	6	32163591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	32163591	138951476	7261	17578											
NOTCH4	4855	broad.mit.edu	37	chr6	32164146	32164146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggcctggagaagcgaGcgggcggctcgggcgttgtt	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGAAGCGAGCGGGCGGCTC	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5251-5253)cgC>cgT		notch 4							118	135	129					6																	32164146		1509	2708	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164146G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5253C>T	6.37:g.32164146G>A						NOTCH4_ENST00000443903.2_Intron	p.R1751R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			29	5391	-			1751					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5253C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			164	794	0	0	0	1	0	164	794					A	32164146	G	A	32164146	2	1	79	1	0	0	0	0	0	0	0	1	10593	958	34	2		2	NOTCH4	6	32164146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	32164146	138950921	7262	17579											
NOTCH4	4855	broad.mit.edu	37	chr6	32165082	32165082	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtgtgtgctaacctggcaGacctcccgagcatcagcagc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Silent_p.V91V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1682					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAACCTGGCAGACCTCCCGAG	0.602																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5044-5046)gtC>gtA		notch 4							40	45	43					6																	32165082		2201	4300	6501	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32165082G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5046C>A	6.37:g.32165082G>T						NOTCH4_ENST00000443903.2_Silent_p.V91V	p.V1682V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			27	5184	-			1682					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5046C>A	CCDS34420.1																																																																																				0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			79	345	1	0	1.52589e-26	1	1.75947e-26	79	345					T	32165082	G	T	32165082	2	4	79	1	0	0	0	0	0	0	0	1	10593	929	33	3		3	NOTCH4	6	32165082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	32165082	138949985	7263	17580											
NOTCH4	4855	broad.mit.edu	37	chr6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcggcgtcgacgccggAtgagctggaggacgagaaga	17	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(4411-4413)aTc>aGc		notch 4							40	50	46					6																	32166826		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166826A>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4412T>G	6.37:g.32166826A>C	ENSP00000364163:p.Ile1471Ser						p.I1471S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			24	4550	-			1471					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4412T>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990101	0.54041	.	.	ENSG00000204301	ENST00000375023	T	0.80480	-1.38	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.55097	0.1899	N	0.20685	0.6	0.80722	D	1	P;B	0.45715	0.865;0.048	P;B	0.48901	0.594;0.025	T	0.61695	-0.7010	10	0.05721	T	0.95	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	S	1471	ENSP00000364163:I1471S	ENSP00000364163:I1471S	I	-	2	0	NOTCH4	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC		0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			27	497	0	0	0	1	0	27	497					C	32166826	A	C	32166826	3	2	79	1	0	0	0	0	1	0	0	0	10593	333	12	4	1627	4	NOTCH4	6	32166826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1744	32166826	138948241	7264	17581											
NOTCH4	4855	broad.mit.edu	37	chr6	32171927	32171927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcacctgtgtgtccaggCagacactggcagtagaaggc	13	12	1	2	rs558185332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1035	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGTCCAGGCAGACACTGGC	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3103-3105)ctG>ctA		notch 4							56	41	46					6																	32171927		1510	2707	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171927C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3105G>A	6.37:g.32171927C>T							p.L1035L	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3243	-			1035			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3105G>A	CCDS34420.1																																																																																				0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			27	144	0	0	0	1	0	27	144					T	32171927	C	T	32171927	2	4	79	1	0	0	0	0	0	0	0	1	10593	697	25	2		2	NOTCH4	6	32171927	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5101	32171927	138943140	7265	17582											
NOTCH4	4855	broad.mit.edu	37	chr6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggacaagggtcttcaaGcttggcctggcatctctcac	13	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	118	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCTTCAAGCTTGGCCTGG	0.627																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(352-354)Ctt>Ttt		notch 4							65	69	67					6																	32190387		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190387G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.352C>T	6.37:g.32190387G>A	ENSP00000364163:p.Leu118Phe						p.L118F	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	490	-			118			EGF-like 3.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.352C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183465	0.09495	.	.	ENSG00000204301	ENST00000375023	D	0.81996	-1.56	4.14	3.27	0.37495	Epidermal growth factor-like, type 3 (1);	0.000000	0.38058	N	0.001823	T	0.67277	0.2876	L	0.38175	1.15	0.09310	N	0.999999	D;P	0.56035	0.974;0.846	P;B	0.50136	0.632;0.157	T	0.60652	-0.7221	10	0.45353	T	0.12	.	7.1824	0.25780	0.0:0.1898:0.614:0.1962	.	118;118	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	118	ENSP00000364163:L118F	ENSP00000364163:L118F	L	-	1	0	NOTCH4	32298365	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	0.693000	0.25497	0.963000	0.38082	-0.219000	0.12488	CTT		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			88	393	0	0	0	1	0	88	393					A	32190387	G	A	32190387	3	1	79	1	0	0	0	0	1	0	0	0	10593	971	34	2	5771	2	NOTCH4	6	32190387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18460	32190387	138924680	7266	17583											
NOTCH4	4855	broad.mit.edu	37	chr6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaatggagagggagagCtggggagccctaggggagcg	21	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	92	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGAGAGCTGGGGAGCCC	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(274-276)aGc>aTc		notch 4							72	76	74					6																	32190464		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190464C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.275G>T	6.37:g.32190464C>A	ENSP00000364163:p.Ser92Ile						p.S92I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	413	-			92			EGF-like 2.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.275G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628773	0.14257	.	.	ENSG00000204301	ENST00000375023	T	0.11821	2.74	3.12	3.12	0.35913	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.987505	0.08238	N	0.976480	T	0.06962	0.0177	N	0.14661	0.345	0.33880	D	0.636028	D;P	0.58970	0.984;0.836	P;B	0.50754	0.649;0.329	T	0.19811	-1.0294	10	0.87932	D	0	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	92;92	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	92	ENSP00000364163:S92I	ENSP00000364163:S92I	S	-	2	0	NOTCH4	32298442	0.003000	0.15002	0.006000	0.13384	0.033000	0.12548	1.745000	0.38278	2.051000	0.60960	0.555000	0.69702	AGC		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			86	392	1	0	1.3466e-33	1	1.59697e-33	86	392					A	32190464	C	A	32190464	3	1	79	1	0	0	0	0	1	0	0	0	10593	797	28	3	5848	3	NOTCH4	6	32190464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	32190464	138924603	7267	17584											
BTNL2	56244	broad.mit.edu	37	chr6	32369565	32369565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctcgtacttacccaGctcagtctggagtttctctg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000374993.1	-	4	726	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000454136.3_Silent_p.L243L|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	243	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(727-729)Ctg>Ttg		butyrophilin-like 2 (MHC class II associated)							49	51	50					6																	32369565		2203	4300	6503	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32369565G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.727C>T	6.37:g.32369565G>A						BTNL2_ENST00000374993.1_Silent_p.L243L|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	p.L243L			Q9UIR0	BTNL2_HUMAN			4	731	-			243			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.727C>T																																																																																					0.468	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		30	133	0	0	0	1	0	30	133					A	32369565	G	A	32369565	2	1	79	1	0	0	0	0	0	0	0	1	1569	962	34	2		2	BTNL2	6	32369565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179101	32369565	138745502	7268	17585											
BTNL2	56244	broad.mit.edu	37	chr6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacctgggaggctgatgaccGaccccttctcctcagtgagg	13	13	2	3	rs185078933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000374993.1	-	3	691	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.S231L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17261	0.001		0.0	False		,,,				2504	0.0					ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(691-693)tCg>tTg		butyrophilin-like 2 (MHC class II associated)							61	51	55					6																	32370729		1510	2709	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32370729G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.692C>T	6.37:g.32370729G>A	ENSP00000364132:p.Ser231Leu					BTNL2_ENST00000374993.1_Missense_Mutation_p.S231L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	p.S231L			Q9UIR0	BTNL2_HUMAN			3	696	-			231			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.692C>T		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.29	2.490779	0.44249	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03982	3.74	4.71	3.84	0.44239	Immunoglobulin-like (1);	1.024130	0.07817	N	0.959082	T	0.02304	0.0071	M	0.66439	2.03	0.22737	N	0.998798	B	0.20052	0.041	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	.	9.1993	0.37249	0.0993:0.0:0.9007:0.0	.	231	Q9UIR0	BTNL2_HUMAN	L	231	ENSP00000364132:S231L	ENSP00000364132:S231L	S	-	2	0	BTNL2	32478707	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	2.342000	0.43992	1.378000	0.46305	0.626000	0.83405	TCG		0.587	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		34	124	0	0	0	1	0	34	124					A	32370729	G	A	32370729	3	1	79	1	0	0	0	0	1	0	0	0	1569	1059	37	1	691	1	BTNL2	6	32370729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1164	32370729	138744338	7269	17586											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713601	32713601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgttttccaagtttcCtgtgacgctgggtcagccca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32713601C>A	ENST00000374940.3	+	3	467	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.P122L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TCCAAGTTTCCTGTGACGCTG	0.507																																						ENST00000374940.3																			1	Substitution - Missense(1)	p.P122L(1)	endometrium(1)	endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(364-366)cCt>cAt		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						183	143	157					6																	32713601		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713601C>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.365C>A	6.37:g.32713601C>A	ENSP00000364076:p.Pro122His						p.P122H	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	467	+			122			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.365C>A	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.674	1.147399	0.21288	.	.	ENSG00000237541	ENST00000374940	T	0.03181	4.02	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.262799	0.32328	U	0.006247	T	0.14056	0.0340	M	0.93150	3.385	0.19575	N	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.03112	-1.1071	10	0.87932	D	0	.	11.8979	0.52665	0.0:1.0:0.0:0.0	.	122	P01906	DQA2_HUMAN	H	122	ENSP00000364076:P122H	ENSP00000364076:P122H	P	+	2	0	HLA-DQA2	32821579	0.052000	0.20516	0.689000	0.30133	0.038000	0.13279	1.998000	0.40796	1.700000	0.51204	0.174000	0.16983	CCT		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		85	398	1	0	2.38877e-28	1	2.77873e-28	85	398					A	32713601	C	A	32713601	3	1	79	1	0	0	0	0	1	0	0	0	7235	681	24	3	375	3	HLA-DQA2	6	32713601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342872	32713601	138401466	7270	17587											
TAP2	6891	broad.mit.edu	37	chr6	32800500	32800500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatagcgacagacttcatgCtcctcggccccaaaactgcg	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000452392.2	-	6	1220	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000374897.2_Silent_p.E349E|TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGACTTCATGCTCCTCGGCCC	0.597																																						ENST00000374897.2																			0											c.(1045-1047)gaG>gaA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							118	104	109					6																	32800500		1511	2709	4220	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800500C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1047G>A	6.37:g.32800500C>T						TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000452392.2_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR	p.E349E	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			6	1178	-			349			ABC transmembrane type-1.|Involved in peptide-binding site.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1047G>A																																																																																					0.597	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		112	424	0	0	0	1	0	112	424					T	32800500	C	T	32800500	2	4	79	1	0	0	0	0	0	0	0	1	15603	796	28	2		2	TAP2	6	32800500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86899	32800500	138314567	7271	17588											
TAP2	6891	broad.mit.edu	37	chr6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcggccccaaaactgCgaacggtctgcagccctcca	9	18	1	0	rs376467259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000452392.2	-	6	1201	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000374897.2_Missense_Mutation_p.R343H|TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCCAAAACTGCGAACGGTCTG	0.607																																						ENST00000374897.2																			0											c.(1027-1029)cGc>cAc		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)		C	HIS/ARG,HIS/ARG	1,3019		0,1,1509	101	91	95		1028,1028	5.1	1	6		95	0,5418		0,0,2709	no	missense,missense	TAP2	NM_000544.3,NM_018833.2	29,29	0,1,4218	TT,TC,CC		0.0,0.0331,0.0119	probably-damaging,probably-damaging	343/704,343/654	32800519	1,8437	1510	2709	4219	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800519C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1028G>A	6.37:g.32800519C>T	ENSP00000391806:p.Arg343His					TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000452392.2_Missense_Mutation_p.R343H	p.R343H	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			6	1159	-			343			ABC transmembrane type-1.|Involved in peptide-binding site.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1028G>A		.	.	.	.	.	.	.	.	.	.	C	16.83	3.229945	0.58777	3.31E-4	0.0	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82711	-1.64;-1.64;-1.64	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219605	0.32204	N	0.006436	D	0.92489	0.7615	M	0.93507	3.425	0.39843	D	0.973139	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.986;0.986	D	0.93931	0.7214	9	0.87932	D	0	-13.3852	15.9458	0.79792	0.0:1.0:0.0:0.0	.	343;344;343;343	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	H	343	ENSP00000364034:R343H;ENSP00000364032:R343H;ENSP00000391806:R343H	ENSP00000364032:R343H	R	-	2	0	XXbac-BPG246D15.9;TAP2	32908497	0.997000	0.39634	1.000000	0.80357	0.131000	0.20780	2.933000	0.48948	2.619000	0.88677	0.549000	0.68633	CGC		0.607	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		16	480	0	0	0	1	0	16	480					T	32800519	C	T	32800519	3	4	79	1	0	0	0	0	1	0	0	0	15603	768	27	1	1145	1	TAP2	6	32800519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	32800519	138314548	7272	17589											
TAP1	6890	broad.mit.edu	37	chr6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggttgagtgtctttAtttcttgcagcttttcccta	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	457	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GAGTGTCTTTATTTCTTGCAG	0.517																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1369-1371)aTa>aGa		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							151	144	147					6																	32818155		2203	4300	6503	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818155A>C		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1370T>G	6.37:g.32818155A>C	ENSP00000346206:p.Ile457Arg					TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	p.I457R	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			5	1531	-			457			ABC transmembrane type-1.|Involved in peptide-binding site.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1370T>G	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316890	0.60524	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80566	-1.39;-1.39	5.72	4.59	0.56863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.005140	0.08010	N	0.990277	T	0.61324	0.2338	N	0.19112	0.55	0.48511	D	0.999665	P	0.38745	0.645	P	0.44422	0.449	T	0.63959	-0.6519	10	0.66056	D	0.02	-10.3736	4.4281	0.11513	0.7684:0.0:0.2316:0.0	.	457	Q03518	TAP1_HUMAN	R	457;196	ENSP00000346206:I457R;ENSP00000401919:I196R	ENSP00000346206:I457R	I	-	2	0	TAP1	32926133	0.993000	0.37304	0.366000	0.25914	0.793000	0.44817	2.439000	0.44846	2.185000	0.69588	0.523000	0.50628	ATA		0.517	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		77	321	0	0	0	1	0	77	321					C	32818155	A	C	32818155	3	2	79	1	0	0	0	0	1	0	0	0	15602	449	16	4	1084	4	TAP1	6	32818155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17636	32818155	138296912	7273	17590											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903416	32903416	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttcagggtctgcatgggGgacagcccaggtgctgcaaa	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32903416G>T	ENST00000418107.2	-	4	898	c.636C>A	c.(634-636)tcC>tcA	p.S212S	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	212	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTGCATGGGGGACAGCCCAG	0.537																																						ENST00000418107.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(634-636)tcC>tcA		major histocompatibility complex, class II, DM beta							46	53	50					6																	32903416		1510	2707	4217	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32903416G>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.636C>A	6.37:g.32903416G>T							p.S212S	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN			4	898	-			212			Connecting peptide (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.636C>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969380	0.18659	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.81	-1.08	0.09936	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9558	0.14038	0.4117:0.1638:0.4244:0.0	.	.	.	.	T	102	.	.	P	-	1	0	HLA-DMB	33011394	0.010000	0.17322	0.741000	0.31004	0.990000	0.78478	-1.280000	0.02804	-0.154000	0.11118	0.448000	0.29417	CCC		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		8	296	1	0	1.12685e-05	1	1.15515e-05	8	296					T	32903416	G	T	32903416	2	4	79	1	0	0	0	0	0	0	0	1	7229	1219	43	3		3	HLA-DMB	6	32903416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85261	32903416	138211651	7274	17591											
BRD2	6046	broad.mit.edu	37	chr6	32947695	32947695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaggcccatgagttaCgatgagaagcggcagctgag	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000374825.4	+	11	3633	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000395289.2_Silent_p.Y679Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	644	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2035-2037)taC>taT		bromodomain containing 2							51	52	52					6																	32947695		1511	2709	4220	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947695C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1932C>T	6.37:g.32947695C>T						BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000374825.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000374831.4_Silent_p.Y644Y	p.Y679Y			P25440	BRD2_HUMAN			12	3638	+			644			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.2037C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161641	0.21538	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	-7.03	0.01584	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-11.7188	16.3828	0.83481	0.0:0.271:0.0:0.729	.	.	.	.	M	650	.	.	T	+	2	0	BRD2	33055673	0.000000	0.05858	0.535000	0.28026	0.992000	0.81027	-2.064000	0.01387	-1.651000	0.01504	-0.152000	0.13540	ACG		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			38	171	0	0	0	1	0	38	171					T	32947695	C	T	32947695	2	4	79	1	0	0	0	0	0	0	0	1	1506	547	19	1		1	BRD2	6	32947695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	32947695	138167372	7275	17592											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaaactcctccagatgCcagacggtctccttcttgtc	8	15	2	2	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468																																						ENST00000419277.1																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(220-222)tgG>tgT		major histocompatibility complex, class II, DP alpha 1							76	93	87					6																	33037542		1511	2708	4219	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33037542C>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.222G>T	6.37:g.33037542C>A	ENSP00000393566:p.Trp74Cys					HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C	p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN			3	351	-			74		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).	Alpha-1.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.222G>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314656	0.40996	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00932	5.53;5.53;5.53	3.0	3.0	0.34707	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.729808	0.12564	U	0.457926	T	0.05135	0.0137	H	0.95470	3.675	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.01587	-1.1318	10	0.87932	D	0	.	12.1984	0.54311	0.0:1.0:0.0:0.0	.	74	P20036	DPA1_HUMAN	C	74	ENSP00000393566:W74C;ENSP00000402872:W74C;ENSP00000390929:W74C	ENSP00000393566:W74C	W	-	3	0	HLA-DPA1	33145520	0.992000	0.36948	0.319000	0.25293	0.688000	0.40055	2.553000	0.45837	1.601000	0.50113	0.643000	0.83706	TGG		0.468	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		68	201	1	0	1.77791e-30	1	2.08608e-30	68	201					A	33037542	C	A	33037542	3	1	79	1	0	0	0	0	1	0	0	0	7232	740	26	3	572	3	HLA-DPA1	6	33037542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89847	33037542	138077525	7276	17593											
COL11A2	1302	broad.mit.edu	37	chr6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacccctcgaggtcctggGtatcctagaggtccctgagg	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000374708.4	-	25	2148	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	716	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2146-2148)taC>taA		collagen, type XI, alpha 2							38	39	39					6																	33144231		1511	2709	4220	SO:0001587	stop_gained	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33144231G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1890C>A	6.37:g.33144231G>T	ENSP00000363840:p.Tyr630*					COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Y630*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*	p.Y716*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			27	2375	-			716			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	37	c.2148C>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	42	9.337532	0.99142	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.88	3.11	0.35812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8654	0.24091	0.2806:0.0:0.7194:0.0	.	.	.	.	X	630;716;695;690;669;656;635;609	.	ENSP00000339915:Y716X	Y	-	3	2	COL11A2	33252209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	0.675000	0.31264	0.549000	0.68633	TAC		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			32	125	1	0	4.3181e-19	1	4.80867e-19	32	125					T	33144231	G	T	33144231	4	4	79	1	0	0	0	0	0	1	0	0	3677	1256	44	3	3222	3	COL11A2	6	33144231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106689	33144231	137970836	7277	17594											
COL11A2	1302	broad.mit.edu	37	chr6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgggtcccaggggtgccCtgttgtccaggaggtcctgg	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000374708.4	-	21	1953	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	651	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1951-1953)caG>caT		collagen, type XI, alpha 2							39	40	40					6																	33145207		1508	2708	4216	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33145207C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1695G>T	6.37:g.33145207C>A	ENSP00000363840:p.Gln565His					COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q565H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	p.Q651H	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			23	2180	-			651			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1953G>T	CCDS43452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571584|3.571584	0.65765|0.65765	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917|ENST00000395196	D;D;D;D;D;D;D;D|.	0.95885|.	-3.41;-3.84;-3.84;-3.84;-3.84;-3.41;-3.84;-3.41|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60143|0.60143	0.2246|0.2246	L|L	0.45470|0.45470	1.425|1.425	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|D	0.89917|0.76494	1.0;0.996;0.997|0.999	D;D;D|D	0.91635|0.65573	0.999;0.996;0.981|0.936	T|T	0.65265|0.65265	-0.6210|-0.6210	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	13.8013|13.8013	0.63202|0.63202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;565;651|57	P13942-8;P13942-6;P13942|A2ABA7	.;.;COBA2_HUMAN|.	H|M	565;651;630;625;604;591;570;544|31	ENSP00000363840:Q565H;ENSP00000339915:Q651H;ENSP00000350079:Q630H;ENSP00000363846:Q625H;ENSP00000363845:Q604H;ENSP00000378623:Q591H;ENSP00000363844:Q570H;ENSP00000355123:Q544H|.	ENSP00000339915:Q651H|ENSP00000378622:R31M	Q|R	-|-	3|2	2|0	COL11A2|COL11A2	33253185|33253185	0.651000|0.651000	0.27340|0.27340	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.110000|-0.110000	0.10824|0.10824	2.113000|2.113000	0.64589|0.64589	0.579000|0.579000	0.79373|0.79373	CAG|AGG		0.567	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			44	164	1	0	1.30916e-28	1	1.52443e-28	44	164					A	33145207	C	A	33145207	3	1	79	1	0	0	0	0	1	0	0	0	3677	680	24	3	3433	3	COL11A2	6	33145207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	976	33145207	137969860	7278	17595											
SLC39A7	7922	broad.mit.edu	37	chr6	33169572	33169572	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccattttttgtcctcttCcttatccccgtggagtcgaa	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.F154F|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	154					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(460-462)ttC>ttT		solute carrier family 39 (zinc transporter), member 7							77	89	85					6																	33169572		1310	2554	3864	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169572C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.462C>T	6.37:g.33169572C>T						SLC39A7_ENST00000374675.3_Silent_p.F154F	p.F154F	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			2	835	+			154					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.462C>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748232	0.15710	.	.	ENSG00000112473	ENST00000445037	.	.	.	4.84	0.998	0.19857	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10154	-1.0642	5	0.21014	T	0.42	-17.2381	8.5856	0.33655	0.0:0.6571:0.0:0.3429	.	.	.	.	S	60	.	ENSP00000416844:P60S	P	+	1	0	SLC39A7	33277550	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.472000	0.22116	0.272000	0.22027	-0.284000	0.09977	CCT		0.547	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		71	340	0	0	0	1	0	71	340					T	33169572	C	T	33169572	2	4	79	1	0	0	0	0	0	0	0	1	14673	854	30	2		2	SLC39A7	6	33169572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24365	33169572	137945495	7279	17596											
SLC39A7	7922	broad.mit.edu	37	chr6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagagctcagaggaagaaGaaaaggaaacaagaggggtt	15	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	280			E -> G (in dbSNP:rs1048778). {ECO:0000269|PubMed:8812499, ECO:0000269|Ref.2}.		transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(838-840)Gaa>Taa		solute carrier family 39 (zinc transporter), member 7							71	72	71					6																	33170375		1216	2516	3732	SO:0001587	stop_gained	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170375G>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.838G>T	6.37:g.33170375G>T	ENSP00000363809:p.Glu280*					SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*	p.E280*	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			5	1211	+			280		E -> G (in dbSNP:rs1048778).			B0UXF6|Q5STP8|Q9UIQ0	Nonsense_Mutation	SNP	ENST00000374677.3	37	c.838G>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313466	0.95655	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	.	.	.	4.26	4.26	0.50523	.	0.350125	0.26383	N	0.024686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.3686	12.0355	0.53423	0.0:0.0:1.0:0.0	.	.	.	.	X	190;280;261;185;280	.	ENSP00000363807:E280X	E	+	1	0	SLC39A7	33278353	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.859000	0.69539	2.209000	0.71365	0.549000	0.68633	GAA		0.502	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		63	235	1	0	1.87469e-40	1	2.27324e-40	63	235					T	33170375	G	T	33170375	4	4	79	1	0	0	0	0	0	1	0	0	14673	943	33	3	856	3	SLC39A7	6	33170375	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	33170375	137944692	7280	17597											
RING1	6015	broad.mit.edu	37	chr6	33179292	33179292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccggccccaccccctGctcgtggagaagggagaata	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	271	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(811-813)ctG>ctA		ring finger protein 1							23	26	25					6																	33179292		1262	2567	3829	SO:0001819	synonymous_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179292G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.813G>A	6.37:g.33179292G>A						RING1_ENST00000478431.1_3'UTR	p.L271L	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			5	1021	+			271			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Silent	SNP	ENST00000374656.4	37	c.813G>A	CCDS34424.1																																																																																				0.627	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			46	182	0	0	0	1	0	46	182					A	33179292	G	A	33179292	2	1	79	1	0	0	0	0	0	0	0	1	13424	1306	46	2		2	RING1	6	33179292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8917	33179292	137935775	7281	17598											
RING1	6015	broad.mit.edu	37	chr6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggggagccaggagggCctggagggggcgcctctgac	20	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	319	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(955-957)Cct>Tct		ring finger protein 1							39	42	41					6																	33179615		2203	4298	6501	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179615C>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.955C>T	6.37:g.33179615C>T	ENSP00000363787:p.Pro319Ser					RING1_ENST00000478431.1_3'UTR	p.P319S	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			6	1163	+			319			Gly-rich.|Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.955C>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465674	0.43839	.	.	ENSG00000204227	ENST00000374656	D	0.83163	-1.69	4.19	3.32	0.38043	.	0.365598	0.20926	N	0.083198	T	0.41926	0.1180	N	0.08118	0	0.30485	N	0.771968	B	0.18310	0.027	B	0.17098	0.017	T	0.15636	-1.0430	10	0.14252	T	0.57	-6.4677	7.6128	0.28139	0.0:0.8838:0.0:0.1162	.	319	Q06587	RING1_HUMAN	S	319	ENSP00000363787:P319S	ENSP00000363787:P319S	P	+	1	0	RING1	33287593	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.150000	0.42254	0.958000	0.37956	0.448000	0.29417	CCT		0.672	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			54	281	0	0	0	1	0	54	281					T	33179615	C	T	33179615	3	4	79	1	0	0	0	0	1	0	0	0	13424	739	26	2	973	2	RING1	6	33179615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	33179615	137935452	7282	17599											
VPS52	6293	broad.mit.edu	37	chr6	33218738	33218738	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccggtggaagcgatgataGagctggatcagctgggtcag	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	HCG25_ENST00000422366.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	684					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGCGATGATAGAGCTGGATCA	0.537																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2050-2052)ctC>ctA		vacuolar protein sorting 52 homolog (S. cerevisiae)							63	67	66					6																	33218738		1510	2707	4217	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33218738G>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.2052C>A	6.37:g.33218738G>T						HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA	p.L684L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			20	2270	-			684					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.2052C>A	CCDS4770.2																																																																																				0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		18	382	1	0	1.33834e-09	1	1.40959e-09	18	382					T	33218738	G	T	33218738	2	4	79	1	0	0	0	0	0	0	0	1	17268	929	33	3		3	VPS52	6	33218738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39123	33218738	137896329	7283	17600											
B3GALT4	8705	broad.mit.edu	37	chr6	33245202	33245202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtacgccgcaccatgcaGctcaggctcttccggcgcct	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	2					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(4-6)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							44	49	47					6																	33245202		2202	4296	6498	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245202G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.6G>A	6.37:g.33245202G>A							p.Q2Q	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	286	+			2						Silent	SNP	ENST00000451237.1	37	c.6G>A	CCDS34425.1																																																																																				0.677	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			116	515	0	0	0	1	0	116	515					A	33245202	G	A	33245202	2	1	79	1	0	0	0	0	0	0	0	1	1250	962	34	2		2	B3GALT4	6	33245202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26464	33245202	137869865	7284	17601											
B3GALT4	8705	broad.mit.edu	37	chr6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtatcagaggagcagtggCctcacacctggggccccttt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	252					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(754-756)Cct>Tct		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							47	51	50					6																	33245950		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245950C>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.754C>T	6.37:g.33245950C>T	ENSP00000390784:p.Pro252Ser						p.P252S	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1034	+			252						Missense_Mutation	SNP	ENST00000451237.1	37	c.754C>T	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229448	0.58777	.	.	ENSG00000235863	ENST00000451237	T	0.55234	0.53	4.49	4.49	0.54785	.	0.155147	0.42548	D	0.000681	T	0.39172	0.1068	L	0.58969	1.84	0.37649	D	0.922334	P	0.47677	0.899	P	0.45998	0.5	T	0.45220	-0.9276	10	0.49607	T	0.09	.	8.3233	0.32142	0.0:0.8953:0.0:0.1047	.	252	O96024	B3GT4_HUMAN	S	252	ENSP00000390784:P252S	ENSP00000390784:P252S	P	+	1	0	B3GALT4	33353928	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	2.563000	0.45922	2.334000	0.79466	0.643000	0.83706	CCT		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			96	345	0	0	0	1	0	96	345					T	33245950	C	T	33245950	3	4	79	1	0	0	0	0	1	0	0	0	1250	739	26	2	756	2	B3GALT4	6	33245950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	748	33245950	137869117	7285	17602											
WDR46	9277	broad.mit.edu	37	chr6	33247071	33247071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcgcacaaatctgtcCagggcagatggccgggcccc	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	605							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAAATCTGTCCAGGGCAGATG	0.617																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1813-1815)ctG>ctT		WD repeat domain 46							90	98	95					6																	33247071		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33247071C>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1815G>T	6.37:g.33247071C>A						B3GALT4_ENST00000606990.1_Intron	p.L605L	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			15	2171	-			605					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.1815G>T	CCDS4772.1																																																																																				0.617	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		26	816	1	0	3.1745e-13	1	3.424e-13	26	816					A	33247071	C	A	33247071	2	1	79	1	0	0	0	0	0	0	0	1	17353	581	21	3		3	WDR46	6	33247071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	33247071	137867996	7286	17603											
WDR46	9277	broad.mit.edu	37	chr6	33256731	33256731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgttacgaggaggCcctggagaggctccggctgt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33256731C>T	ENST00000374617.4	-	2	485	c.129G>A	c.(127-129)ggG>ggA	p.G43G	PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	43							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TACGAGGAGGCCCTGGAGAGG	0.572																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(127-129)ggG>ggA		WD repeat domain 46							55	60	58					6																	33256731		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33256731C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.129G>A	6.37:g.33256731C>T						WDR46_ENST00000477718.1_5'UTR	p.G43G	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			2	485	-			43					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.129G>A	CCDS4772.1																																																																																				0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		8	428	0	0	0	1	0	8	428					T	33256731	C	T	33256731	2	4	79	1	0	0	0	0	0	0	0	1	17353	726	26	2		2	WDR46	6	33256731	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9660	33256731	137858336	7287	17604											
RGL2	5863	broad.mit.edu	37	chr6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaaaggagccccctcCtccctcactcggaggagttc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGCCCCCTCCTCCCTCACTC	0.602																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(2272-2274)Gga>Tga		ral guanine nucleotide dissociation stimulator-like 2							65	62	63					6																	33259941		2203	4300	6503	SO:0001587	stop_gained	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33259941C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2272G>T	6.37:g.33259941C>A	ENSP00000420211:p.Gly758*					PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	p.G758*	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			18	2767	-			758					B4DG72|Q5STK0|Q9Y3F3	Nonsense_Mutation	SNP	ENST00000497454.1	37	c.2272G>T	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.777970|9.777970	0.99261|0.99261	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|.	.|.	.|.	5.64|5.64	3.85|3.85	0.44370|0.44370	.|.	.|0.307620	.|0.31020	.|N	.|0.008409	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12785|.	-1.0534|.	5|.	0.52906|0.18276	T|T	0.07|0.48	.|.	8.0045|8.0045	0.30317|0.30317	0.0:0.7551:0.1598:0.0851|0.0:0.7551:0.1598:0.0851	.|.	.|.	.|.	.|.	D|X	620|758	.|.	ENSP00000400083:E620D|ENSP00000420211:G758X	E|G	-|-	3|1	2|0	RGL2|RGL2	33367919|33367919	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	0.970000|0.970000	0.29383|0.29383	0.730000|0.730000	0.32425|0.32425	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			13	349	1	0	7.03913e-09	1	7.37812e-09	13	349					A	33259941	C	A	33259941	4	1	79	1	0	0	0	0	0	1	0	0	13327	690	24	3	65	3	RGL2	6	33259941	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3210	33259941	137855126	7288	17605											
TAPBP	6892	broad.mit.edu	37	chr6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcccgtgcaagggttgCtggcatcagggacactttgg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000489157.1	-	4	846	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	299					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCAAGGGTTGCTGGCATCAGG	0.592																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(895-897)Gca>Aca		TAP binding protein (tapasin)							30	34	33					6																	33272389		1947	4100	6047	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272389C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.634G>A	6.37:g.33272389C>T	ENSP00000419659:p.Ala212Thr					TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000489157.1_Missense_Mutation_p.A212T	p.A299T	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			5	1240	-			299			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.895G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776151	0.31411	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.19	2.15	0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444281	0.24513	N	0.037872	T	0.05731	0.0150	L	0.53249	1.67	0.31031	N	0.717382	P;P;P;P;B	0.45212	0.476;0.853;0.799;0.476;0.345	B;B;B;B;B	0.34138	0.045;0.176;0.162;0.031;0.02	T	0.19224	-1.0312	10	0.40728	T	0.16	-2.9447	10.6851	0.45837	0.5381:0.4618:0.0:0.0	.	299;212;317;299;299	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	T	299;317;212;299;299;299	ENSP00000395701:A299T;ENSP00000417949:A317T;ENSP00000419659:A212T;ENSP00000404833:A299T;ENSP00000387803:A299T	ENSP00000404833:A299T	A	-	1	0	TAPBP	33380367	0.290000	0.24343	0.875000	0.34327	0.272000	0.26649	0.443000	0.21644	0.737000	0.32582	-0.335000	0.08231	GCA		0.592	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			11	278	0	0	0	1	0	11	278					T	33272389	C	T	33272389	3	4	79	1	0	0	0	0	1	0	0	0	15604	797	28	2	647	2	TAPBP	6	33272389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12448	33272389	137842678	7289	17606											
ZBTB22	9278	broad.mit.edu	37	chr6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggaagttgacaatgTcagcagcagccatgctgagg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(367-369)gAc>gGc		zinc finger and BTB domain containing 22							103	104	104					6																	33284326		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284326T>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.368A>G	6.37:g.33284326T>C	ENSP00000407545:p.Asp123Gly					ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	p.D123G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	519	-			123					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.368A>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611789	0.66558	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.68765	-0.35;-0.35;-0.35	4.44	4.44	0.53790	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.35585	N	0.003104	T	0.71039	0.3293	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.74601	-0.3611	10	0.59425	D	0.04	.	11.7181	0.51666	0.0:0.0:0.0:1.0	.	123	O15209	ZBT22_HUMAN	G	123	ENSP00000404403:D123G;ENSP00000407545:D123G;ENSP00000413172:D123G	ENSP00000404403:D123G	D	-	2	0	ZBTB22	33392304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	1.870000	0.54199	0.450000	0.29827	GAC		0.582	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			155	671	0	0	0	1	0	155	671					C	33284326	T	C	33284326	3	2	79	1	0	0	0	0	1	0	0	0	17583	1667	58	4	1540	4	ZBTB22	6	33284326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11937	33284326	137830741	7290	17607											
ZBTB22	9278	broad.mit.edu	37	chr6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcggcaggggaagtgCtgccccactgggagacagag	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGGGAAGTGCTGCCCCACTG	0.652																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(34-36)Gca>Tca		zinc finger and BTB domain containing 22							21	24	23					6																	33284660		2203	4298	6501	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284660C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.34G>T	6.37:g.33284660C>A	ENSP00000407545:p.Ala12Ser					ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	p.A12S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	185	-			12					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.34G>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092534	0.20471	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64438	3.4;3.4;-0.1	4.72	2.81	0.32909	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.22728	N	0.998807	B	0.30793	0.295	B	0.28553	0.091	T	0.06935	-1.0799	9	0.40728	T	0.16	.	5.9203	0.19078	0.0:0.6968:0.1944:0.1088	.	12	O15209	ZBT22_HUMAN	S	12	ENSP00000404403:A12S;ENSP00000407545:A12S;ENSP00000413172:A12S	ENSP00000404403:A12S	A	-	1	0	ZBTB22	33392638	0.605000	0.26941	1.000000	0.80357	0.974000	0.67602	0.552000	0.23376	1.187000	0.43000	0.643000	0.83706	GCA		0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			12	165	1	0	5.50884e-06	1	5.65664e-06	12	165					A	33284660	C	A	33284660	3	1	79	1	0	0	0	0	1	0	0	0	17583	797	28	3	1874	3	ZBTB22	6	33284660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334	33284660	137830407	7291	17608											
DAXX	1616	broad.mit.edu	37	chr6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctttcagcatctatgcTggagggggccaggggttctt	14	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1624-1626)Agc>Ggc		death-domain associated protein							102	93	96					6																	33287473		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287473T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1624A>G	6.37:g.33287473T>C	ENSP00000363668:p.Ser542Gly					DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G	p.S542G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	1828	-			542			Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1624A>G	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387050	0.42308	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.36	0.3	0.15776	.	0.827161	0.11195	N	0.589489	T	0.14787	0.0357	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.24621	-1.0155	9	0.36615	T	0.2	-4.1006	2.8037	0.05421	0.1873:0.2111:0.0:0.6016	.	554;542	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	542;542;467	.	ENSP00000266000:S542G	S	-	1	0	DAXX	33395451	0.014000	0.17966	0.001000	0.08648	0.811000	0.45836	0.142000	0.16096	0.308000	0.22923	0.448000	0.29417	AGC		0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			83	399	0	0	0	1	0	83	399					C	33287473	T	C	33287473	3	2	79	1	0	0	0	0	1	0	0	0	4254	1580	55	4	610	4	DAXX	6	33287473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2813	33287473	137827594	7292	17609											
DAXX	1616	broad.mit.edu	37	chr6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggctgtgtcgggcagCtgccttctctacagcccgaa	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	297	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.A297P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		1	Substitution - Missense(1)	p.A297P(1)	pancreas(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(889-891)Gct>Tct		death-domain associated protein							85	73	77					6																	33288663		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288663C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.889G>T	6.37:g.33288663C>A	ENSP00000363668:p.Ala297Ser					DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A297S	p.A297S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	1093	-			297					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.889G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116827	0.37339	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.79	0.43588	.	0.109437	0.64402	D	0.000010	T	0.36166	0.0957	L	0.50919	1.6	0.33157	D	0.546452	P;D;D	0.58268	0.738;0.982;0.982	B;P;P	0.60117	0.441;0.869;0.869	T	0.24476	-1.0159	9	0.21540	T	0.41	-9.2936	5.725	0.18008	0.1955:0.7078:0.0:0.0968	.	309;297;297	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	S	297;297;222	.	ENSP00000266000:A297S	A	-	1	0	DAXX	33396641	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.756000	0.55205	1.186000	0.42985	0.643000	0.83706	GCT		0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			103	394	1	0	3.19611e-63	1	4.03289e-63	103	394					A	33288663	C	A	33288663	3	1	79	1	0	0	0	0	1	0	0	0	4254	797	28	3	1357	3	DAXX	6	33288663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190	33288663	137826404	7293	17610											
DAXX	1616	broad.mit.edu	37	chr6	33288802	33288802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgctgctctatgacacgGccggtcagtgaagagcagtc	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000266000.6_Silent_p.G250G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.G175G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(748-750)ggC>ggT		death-domain associated protein							72	66	68					6																	33288802		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288802G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.750C>T	6.37:g.33288802G>A						DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.G250G	p.G250G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	954	-			250					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.750C>T	CCDS4776.1																																																																																				0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			71	341	0	0	0	1	0	71	341					A	33288802	G	A	33288802	2	1	79	1	0	0	0	0	0	0	0	1	4254	1190	42	2		2	DAXX	6	33288802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	33288802	137826265	7294	17611											
PHF1	5252	broad.mit.edu	37	chr6	33382062	33382062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcacctcagtgtttgCtgtaagaagaaatactttga	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	265					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(793-795)tgC>tgT		PHD finger protein 1							152	151	151					6																	33382062		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382062C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.795C>T	6.37:g.33382062C>T			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.C265C	p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			9	1066	+		Ovarian(999;0.0443)	265					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.795C>T	CCDS4777.1																																																																																				0.468	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			82	387	0	0	0	1	0	82	387					T	33382062	C	T	33382062	2	4	79	1	0	0	0	0	0	0	0	1	11862	805	28	2		2	PHF1	6	33382062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93260	33382062	137733005	7295	17612											
PHF1	5252	broad.mit.edu	37	chr6	33382914	33382914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctcatctgcagagggCactgcaggtactggagcagg	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	ENST00000374516.3	+	12	1503	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_Silent_p.G407G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	411					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGCAGAGGGCACTGCAGGTA	0.622											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1231-1233)gCa>gTa		PHD finger protein 1							61	60	61					6																	33382914		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382914C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1232C>T	6.37:g.33382914C>T	ENSP00000363640:p.Ala411Val		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.G407G	p.A411V	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			12	1503	+		Ovarian(999;0.0443)	411					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1232C>T	CCDS4777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.126797|2.126797	0.37533|0.37533	.|.	.|.	ENSG00000112511|ENSG00000112511	ENST00000374516|ENST00000427826	T|.	0.23950|.	1.88|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.24275|0.24275	0.0588|0.0588	N|N	0.14661|0.14661	0.345|0.345	0.33422|0.33422	D|D	0.580049|0.580049	D|.	0.57571|.	0.98|.	P|.	0.53988|.	0.739|.	T|T	0.14172|0.14172	-1.0482|-1.0482	10|6	0.15952|0.35671	T|T	0.53|0.21	-7.56|-7.56	13.3671|13.3671	0.60692|0.60692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411|.	O43189|.	PHF1_HUMAN|.	V|Y	411|25	ENSP00000363640:A411V|.	ENSP00000363640:A411V|ENSP00000404788:H25Y	A|H	+|+	2|1	0|0	PHF1|PHF1	33490892|33490892	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.765000|3.765000	0.55272|0.55272	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCA|CAC		0.622	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			64	343	0	0	0	1	0	64	343					T	33382914	C	T	33382914	3	4	79	1	0	0	0	0	1	0	0	0	11862	710	25	2	1274	2	PHF1	6	33382914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	852	33382914	137732153	7296	17613											
SYNGAP1	8831	broad.mit.edu	37	chr6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccaatacgttcattccCcgtatgatcgtcctggttgg	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(112-114)Ccg>Tcg		synaptic Ras GTPase activating protein 1							251	217	229					6																	33391298		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391298C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.112C>T	6.37:g.33391298C>T	ENSP00000403636:p.Pro38Ser					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S	p.P38S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			2	213	+			38					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.112C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612820	0.46631	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.17213	2.29;2.38	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.324033	0.23633	N	0.046106	T	0.19604	0.0471	L	0.38838	1.175	0.32577	N	0.528992	P;P;B	0.51449	0.909;0.945;0.01	P;D;B	0.67900	0.901;0.954;0.004	T	0.01081	-1.1458	10	0.87932	D	0	.	13.4332	0.61068	0.0:1.0:0.0:0.0	.	38;38;38	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	38	ENSP00000293748:P38S;ENSP00000403636:P38S	ENSP00000293748:P38S	P	+	1	0	SYNGAP1	33499276	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.310000	0.59141	2.098000	0.63641	0.555000	0.69702	CCG		0.542	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		125	595	0	0	0	1	0	125	595					T	33391298	C	T	33391298	3	4	79	1	0	0	0	0	1	0	0	0	15499	623	22	2	118	2	SYNGAP1	6	33391298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	33391298	137723769	7297	17614											
SYNGAP1	8831	broad.mit.edu	37	chr6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgaggaggaagagtgtcCcaggggggaagcagtacagc	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(331-333)Cca>Aca		synaptic Ras GTPase activating protein 1							53	50	51					6																	33399973		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33399973C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.331C>A	6.37:g.33399973C>A	ENSP00000403636:p.Pro111Thr					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T	p.P111T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			4	432	+			111					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.331C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022972	0.35701	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.36;2.36	4.49	2.68	0.31781	Pleckstrin homology domain (1);	1.042200	0.07610	N	0.925251	T	0.06325	0.0163	L	0.52573	1.65	0.30470	N	0.773439	B;P;B	0.36535	0.421;0.557;0.016	B;B;B	0.29785	0.05;0.107;0.017	T	0.30238	-0.9985	10	0.87932	D	0	.	8.0326	0.30474	0.0:0.7472:0.1608:0.092	.	111;111;111	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	T	111;111;111;52	ENSP00000293748:P111T;ENSP00000403636:P111T;ENSP00000412475:P52T	ENSP00000293748:P111T	P	+	1	0	SYNGAP1	33507951	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.648000	0.54410	0.440000	0.26502	0.467000	0.42956	CCA		0.637	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		30	201	1	0	6.05902e-23	1	6.8732e-23	30	201					A	33399973	C	A	33399973	3	1	79	1	0	0	0	0	1	0	0	0	15499	623	22	3	345	3	SYNGAP1	6	33399973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	33399973	137715094	7298	17615											
ZBTB9	221504	broad.mit.edu	37	chr6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcattcgctcttcgcctTtccagaccccagtacagtcc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCTTCGCCTTTCCAGACCCC	0.542																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(526-528)Ttc>Gtc		zinc finger and BTB domain containing 9							90	95	93					6																	33423403		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423403T>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.526T>G	6.37:g.33423403T>G	ENSP00000378503:p.Phe176Val						p.F176V	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	794	+			176					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.526T>G	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526113	0.13066	.	.	ENSG00000213588	ENST00000395064	T	0.05580	3.42	4.88	3.67	0.42095	.	0.657953	0.11979	U	0.510993	T	0.01835	0.0058	L	0.29908	0.895	0.28623	N	0.908056	B	0.23650	0.089	B	0.21546	0.035	T	0.43097	-0.9412	10	0.28530	T	0.3	.	9.0034	0.36097	0.0:0.0911:0.0:0.9089	.	176	Q96C00	ZBTB9_HUMAN	V	176	ENSP00000378503:F176V	ENSP00000378503:F176V	F	+	1	0	ZBTB9	33531381	0.970000	0.33590	1.000000	0.80357	0.920000	0.55202	0.733000	0.26087	2.051000	0.60960	0.460000	0.39030	TTC		0.542	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		16	657	0	0	0	1	0	16	657					G	33423403	T	G	33423403	3	3	79	1	0	0	0	0	1	0	0	0	17611	1841	64	4	528	4	ZBTB9	6	33423403	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23430	33423403	137691664	7299	17616											
BAK1	578	broad.mit.edu	37	chr6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggccatgctggtagaCgtgtagggccagacggtagc	16	9	1	2	rs376712748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(424-426)Gtc>Atc		BCL2-antagonist/killer 1		C	ILE/VAL	0,4406		0,0,2203	57	54	55		424	1.9	0.3	6		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAK1	NM_001188.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	142/212	33541918	1,13005	2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33541918C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.424G>A	6.37:g.33541918C>T	ENSP00000363591:p.Val142Ile					BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	p.V142I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			5	672	-			142					C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.424G>A	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881671	0.17467	0.0	1.16E-4	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.11169	2.8;2.8	4.75	1.88	0.25563	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.205916	0.32736	N	0.005701	T	0.03095	0.0091	L	0.45228	1.405	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	T	0.32693	-0.9897	10	0.18276	T	0.48	-26.5385	8.2542	0.31746	0.0:0.721:0.0:0.279	.	142	Q16611	BAK_HUMAN	I	122;142;142	ENSP00000363591:V142I;ENSP00000353878:V142I	ENSP00000353878:V142I	V	-	1	0	BAK1	33649896	0.994000	0.37717	0.259000	0.24435	0.351000	0.29236	2.813000	0.48002	0.194000	0.20326	0.485000	0.47835	GTC		0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		62	257	0	0	0	1	0	62	257					T	33541918	C	T	33541918	3	4	79	1	0	0	0	0	1	0	0	0	1306	536	19	1	219	1	BAK1	6	33541918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118515	33541918	137573149	7300	17617											
BAK1	578	broad.mit.edu	37	chr6	33543127	33543127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctgccgtgggctgcaGgtgctgcaacatggtctgga	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	100					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(298-300)Ctg>Ttg		BCL2-antagonist/killer 1							166	130	142					6																	33543127		2203	4298	6501	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543127G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.298C>T	6.37:g.33543127G>A						BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	546	-			100					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.298C>T	CCDS4781.1																																																																																				0.592	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		68	303	0	0	0	1	0	68	303					A	33543127	G	A	33543127	2	1	79	1	0	0	0	0	0	0	0	1	1306	991	35	2		2	BAK1	6	33543127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209	33543127	137571940	7301	17618											
ITPR3	3710	broad.mit.edu	37	chr6	33626894	33626894	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgacaacgccggctgcaagGaggtgagggggtggggggtc	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	ENST00000374316.5	+	7	1685	c.625G>T	c.(625-627)Gag>Tag	p.E209*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	209	MIR 2. {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)			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)	CGGCTGCAAGGAGGTGAGGGG	0.642																																						ENST00000374316.5																			0				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						c.(625-627)Gag>Tag		inositol 1,4,5-trisphosphate receptor, type 3							53	51	52					6																	33626894		2203	4300	6503	SO:0001587	stop_gained	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.chr6:33626894G>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.625G>T	6.37:g.33626894G>T	ENSP00000363435:p.Glu209*					ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*	p.E209*			Q14573	ITPR3_HUMAN			7	1685	+			209			MIR 2.		Q14649|Q5TAQ2	Nonsense_Mutation	SNP	ENST00000374316.5	37	c.625G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	44	11.245118	0.99536	.	.	ENSG00000096433	ENST00000374316	.	.	.	4.68	4.68	0.58851	.	0.055402	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5481	17.7866	0.88540	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000363435:E209X	E	+	1	0	ITPR3	33734872	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.561000	0.98142	2.434000	0.82447	0.462000	0.41574	GAG		0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		17	366	1	0	4.7546e-09	1	4.99022e-09	17	366					T	33626894	G	T	33626894	4	4	79	1	0	0	0	0	0	1	0	0	7952	1175	41	3	647	3	ITPR3	6	33626894	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83767	33626894	137488173	7302	17619											
ITPR3	3710	broad.mit.edu	37	chr6	33630418	33630418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccagtctgccacctcGgccaccagctccaatgctct	8	19	2	0	rs569007497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	275	MIR 3. {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)			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)	CTGCCACCTCGGCCACCAGCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.0		0.0	False		,,,				2504	0.001					ENST00000374316.5																			0				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						c.(823-825)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 3							67	57	60					6																	33630418		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:33630418G>A	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.825G>A	6.37:g.33630418G>A						ITPR3_ENST00000605930.1_Silent_p.S275S	p.S275S			Q14573	ITPR3_HUMAN			9	1885	+			275			MIR 3.		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.825G>A	CCDS4783.1																																																																																				0.617	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		32	164	0	0	0	1	0	32	164					A	33630418	G	A	33630418	2	1	79	1	0	0	0	0	0	0	0	1	7952	1103	39	1		1	ITPR3	6	33630418	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3524	33630418	137484649	7303	17620											
ITPR3	3710	broad.mit.edu	37	chr6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtcctggacatcatgGtcactaagcccaaccgggaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	498					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)			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)	GGACATCATGGTCACTAAGCC	0.592																																						ENST00000374316.5																			0				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						c.(1492-1494)Gtc>Ttc		inositol 1,4,5-trisphosphate receptor, type 3							120	86	98					6																	33633694		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.chr6:33633694G>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.1492G>T	6.37:g.33633694G>T	ENSP00000363435:p.Val498Phe					ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F	p.V498F			Q14573	ITPR3_HUMAN			15	2552	+			498					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1492G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112780	0.56398	.	.	ENSG00000096433	ENST00000374316	D	0.95518	-3.73	5.64	5.64	0.86602	Intracellular calcium-release channel (1);	0.053328	0.85682	D	0.000000	D	0.93726	0.7995	L	0.49350	1.555	0.46981	D	0.999279	P	0.45827	0.867	P	0.50136	0.632	D	0.93023	0.6442	10	0.40728	T	0.16	-49.3902	13.9283	0.63978	0.0726:0.0:0.9274:0.0	.	498	Q14573	ITPR3_HUMAN	F	498	ENSP00000363435:V498F	ENSP00000363435:V498F	V	+	1	0	ITPR3	33741672	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.547000	0.60712	2.654000	0.90174	0.563000	0.77884	GTC		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		29	139	1	0	5.45727e-16	1	5.98072e-16	29	139					T	33633694	G	T	33633694	3	4	79	1	0	0	0	0	1	0	0	0	7952	1261	44	3	1546	3	ITPR3	6	33633694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3276	33633694	137481373	7304	17621											
ITPR3	3710	broad.mit.edu	37	chr6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgaaggtcccctggtgCggctggaggagctgtcagac	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	537					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)			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)	TCCCCTGGTGCGGCTGGAGGA	0.602																																						ENST00000374316.5																			0				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						c.(1609-1611)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 3							82	77	79					6																	33634963		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.chr6:33634963C>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.1609C>T	6.37:g.33634963C>T	ENSP00000363435:p.Arg537Trp					ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W	p.R537W			Q14573	ITPR3_HUMAN			16	2669	+			537					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1609C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768538	0.69878	.	.	ENSG00000096433	ENST00000374316	D	0.90004	-2.6	4.51	3.48	0.39840	Intracellular calcium-release channel (1);	0.066556	0.56097	D	0.000023	D	0.93070	0.7794	M	0.80982	2.52	0.40864	D	0.983853	D	0.76494	0.999	D	0.73380	0.98	D	0.93942	0.7224	10	0.87932	D	0	-33.5454	14.6107	0.68514	0.2219:0.7781:0.0:0.0	.	537	Q14573	ITPR3_HUMAN	W	537	ENSP00000363435:R537W	ENSP00000363435:R537W	R	+	1	2	ITPR3	33742941	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.483000	0.35497	2.222000	0.72286	0.462000	0.41574	CGG		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		74	373	0	0	0	1	0	74	373					T	33634963	C	T	33634963	3	4	79	1	0	0	0	0	1	0	0	0	7952	759	27	1	1667	1	ITPR3	6	33634963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	33634963	137480104	7305	17622											
ITPR3	3710	broad.mit.edu	37	chr6	33647765	33647765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcgtggaggaccacaGccccctcatgtaccacattt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33647765G>T	ENST00000374316.5	+	32	5139	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1360					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)			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)	GAGGACCACAGCCCCCTCATG	0.602																																						ENST00000374316.5																			0				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						c.(4078-4080)aGc>aTc		inositol 1,4,5-trisphosphate receptor, type 3							82	58	66					6																	33647765		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.chr6:33647765G>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.4079G>T	6.37:g.33647765G>T	ENSP00000363435:p.Ser1360Ile					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I	p.S1360I			Q14573	ITPR3_HUMAN			32	5139	+			1360					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4079G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280461	0.95489	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.70595	2.14	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	D	0.94062	0.7327	10	0.87932	D	0	-36.6971	18.1454	0.89653	0.0:0.0:1.0:0.0	.	1360	Q14573	ITPR3_HUMAN	I	1360	ENSP00000363435:S1360I	ENSP00000363435:S1360I	S	+	2	0	ITPR3	33755743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.624000	0.74243	2.357000	0.79964	0.462000	0.41574	AGC		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		9	242	1	0	1.12685e-05	1	1.15515e-05	9	242					T	33647765	G	T	33647765	3	4	79	1	0	0	0	0	1	0	0	0	7952	971	34	3	4201	3	ITPR3	6	33647765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12802	33647765	137467302	7306	17623											
ITPR3	3710	broad.mit.edu	37	chr6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaggacctcatggagtCggaggagaagctgtgcatca	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1657					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)			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)	CTCATGGAGTCGGAGGAGAAG	0.637																																						ENST00000374316.5																			0				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						c.(4969-4971)tCg>tTg		inositol 1,4,5-trisphosphate receptor, type 3							51	54	53					6																	33652166		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.chr6:33652166C>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.4970C>T	6.37:g.33652166C>T	ENSP00000363435:p.Ser1657Leu					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L	p.S1657L			Q14573	ITPR3_HUMAN			38	6030	+			1657					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4970C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392363	0.62066	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	5.31	5.31	0.75309	.	0.273852	0.37437	N	0.002098	T	0.82245	0.4995	L	0.36672	1.1	0.39997	D	0.975114	B	0.31949	0.348	B	0.24541	0.054	D	0.84365	0.0540	10	0.56958	D	0.05	-11.7663	13.8974	0.63781	0.1523:0.8477:0.0:0.0	.	1657	Q14573	ITPR3_HUMAN	L	1657	ENSP00000363435:S1657L	ENSP00000363435:S1657L	S	+	2	0	ITPR3	33760144	0.961000	0.32948	0.967000	0.41034	0.985000	0.73830	3.599000	0.54045	2.475000	0.83589	0.650000	0.86243	TCG		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		37	165	0	0	0	1	0	37	165					T	33652166	C	T	33652166	3	4	79	1	0	0	0	0	1	0	0	0	7952	893	31	1	5116	1	ITPR3	6	33652166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4401	33652166	137462901	7307	17624											
ITPR3	3710	broad.mit.edu	37	chr6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattgtgcggcaggaccGcagcatggagcagatcgtgt	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2131					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)			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)	CGGCAGGACCGCAGCATGGAG	0.652																																						ENST00000374316.5																			0				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						c.(6391-6393)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							113	98	104					6																	33656032		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.chr6:33656032G>A	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.6392G>A	6.37:g.33656032G>A	ENSP00000363435:p.Arg2131His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H	p.R2131H			Q14573	ITPR3_HUMAN			49	7452	+			2131					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6392G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562243	0.96527	.	.	ENSG00000096433	ENST00000374316	D	0.92545	-3.06	5.53	5.53	0.82687	.	0.115345	0.64402	D	0.000010	D	0.94915	0.8356	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.67725	0.953;0.656	D	0.94548	0.7751	10	0.56958	D	0.05	-27.8597	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2131;1801	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2131	ENSP00000363435:R2131H	ENSP00000363435:R2131H	R	+	2	0	ITPR3	33764010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGC		0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		87	453	0	0	0	1	0	87	453					A	33656032	G	A	33656032	3	1	79	1	0	0	0	0	1	0	0	0	7952	1087	38	1	6582	1	ITPR3	6	33656032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3866	33656032	137459035	7308	17625											
ITPR3	3710	broad.mit.edu	37	chr6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcggaaacgcaggcaaCgcctaggctttgtggatgtc	14	10	0	0	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	SBP1_ENST00000594414.1_5'Flank|MIR3934_ENST00000579806.1_RNA|ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2659					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)			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)	ACGCAGGCAACGCCTAGGCTT	0.602																																						ENST00000374316.5																			0				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						c.(7975-7977)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	114	120		7975	3.5	0.8	6	dbSNP_134	120	0,8600		0,0,4300	no	missense	ITPR3	NM_002224.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2659/2672	33663516	1,13005	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.chr6:33663516C>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.7975C>T	6.37:g.33663516C>T	ENSP00000363435:p.Arg2659Cys					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C	p.R2659C			Q14573	ITPR3_HUMAN			59	9035	+			2659					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7975C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111247	0.77210	2.27E-4	0.0	ENSG00000096433	ENST00000374316	D	0.95980	-3.87	5.43	3.49	0.39957	.	0.106304	0.64402	D	0.000015	D	0.97340	0.9130	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97884	1.0293	10	0.87932	D	0	-29.3951	12.1209	0.53891	0.5423:0.4577:0.0:0.0	.	2659	Q14573	ITPR3_HUMAN	C	2659	ENSP00000363435:R2659C	ENSP00000363435:R2659C	R	+	1	0	ITPR3	33771494	0.594000	0.26849	0.820000	0.32676	0.980000	0.70556	1.012000	0.29924	1.268000	0.44264	0.561000	0.74099	CGC		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		109	491	0	0	0	1	0	109	491					T	33663516	C	T	33663516	3	4	79	1	0	0	0	0	1	0	0	0	7952	536	19	1	8205	1	ITPR3	6	33663516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7484	33663516	137451551	7309	17626											
LEMD2	221496	broad.mit.edu	37	chr6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctacatatggatagcGctccatgtcctgctcccagt	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1303-1305)Cgc>Tgc		LEM domain containing 2							122	98	106					6																	33744789		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744789G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1303C>T	6.37:g.33744789G>A	ENSP00000293760:p.Arg435Cys					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C	p.R435C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1322	-			435					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1303C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	LEMD2|LEMD2	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.617	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		77	279	0	0	0	1	0	77	279					A	33744789	G	A	33744789	3	1	79	1	0	0	0	0	1	0	0	0	8751	1087	38	1	216	1	LEMD2	6	33744789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81273	33744789	137370278	7310	17627											
LEMD2	221496	broad.mit.edu	37	chr6	33744826	33744826	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtccacgtaatggtcctgGaccacgtctgcaggagagag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Silent_p.V120V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	422					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1264-1266)gtC>gtA		LEM domain containing 2							138	120	126					6																	33744826		2203	4300	6503	SO:0001819	synonymous_variant	221496					integral to nuclear inner membrane		g.chr6:33744826G>T		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1266C>A	6.37:g.33744826G>T						LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Silent_p.V120V	p.V422V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1285	-			422					B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	37	c.1266C>A	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184209	0.21870	.	.	ENSG00000161904	ENST00000504692	.	.	.	5.66	-1.11	0.09840	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-11.3519	2.9184	0.05760	0.1335:0.3101:0.3499:0.2065	.	.	.	.	T	70	.	.	P	-	1	0	LEMD2	33852804	0.987000	0.35691	1.000000	0.80357	0.958000	0.62258	0.071000	0.14594	0.277000	0.22141	-0.302000	0.09304	CCA		0.582	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		39	446	1	0	6.29468e-14	1	6.81746e-14	39	446					T	33744826	G	T	33744826	2	4	79	1	0	0	0	0	0	0	0	1	8751	1161	41	3		3	LEMD2	6	33744826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	33744826	137370241	7311	17628											
LEMD2	221496	broad.mit.edu	37	chr6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagccaacacccatgcGggggtgggcagattccaggc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	362					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1084-1086)Cgc>Tgc		LEM domain containing 2							104	100	101					6																	33746091		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33746091G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1084C>T	6.37:g.33746091G>A	ENSP00000293760:p.Arg362Cys					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C	p.R362C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			6	1103	-			362					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1084C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891482|3.891482	0.72524|0.72524	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.215049	.|0.33327	.|N	.|0.005036	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.47716|0.47716	1.5|1.5	0.44539|0.44539	D|D	0.997496|0.997496	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.73380	.|0.98;0.877	T|T	0.69562|0.69562	-0.5112|-0.5112	6|9	0.87932|0.51188	D|T	0|0.08	-5.1228|-5.1228	15.8448|15.8448	0.78879|0.78879	0.0:0.0:0.8631:0.1369|0.0:0.0:0.8631:0.1369	.|.	.|362;323	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	L|C	9|362;60	.|.	ENSP00000421112:P9L|ENSP00000293760:R362C	P|R	-|-	2|1	0|0	LEMD2|LEMD2	33854069|33854069	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.978000|0.978000	0.69477|0.69477	4.571000|4.571000	0.60879|0.60879	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.587	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		108	405	0	0	0	1	0	108	405					A	33746091	G	A	33746091	3	1	79	1	0	0	0	0	1	0	0	0	8751	1116	39	1	443	1	LEMD2	6	33746091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1265	33746091	137368976	7312	17629											
LEMD2	221496	broad.mit.edu	37	chr6	33752178	33752178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcagcagctccagcaaGgctgccttctgcttggcctg	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	268					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(802-804)gcC>gcT		LEM domain containing 2							100	91	94					6																	33752178		2203	4300	6503	SO:0001819	synonymous_variant	221496					integral to nuclear inner membrane		g.chr6:33752178G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.804C>T	6.37:g.33752178G>A						LEMD2_ENST00000508327.1_5'UTR	p.A268A	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			3	823	-			268					B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	37	c.804C>T	CCDS4785.1																																																																																				0.552	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		82	352	0	0	0	1	0	82	352					A	33752178	G	A	33752178	2	1	79	1	0	0	0	0	0	0	0	1	8751	987	35	2		2	LEMD2	6	33752178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6087	33752178	137362889	7313	17630											
MLN	4295	broad.mit.edu	37	chr6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcagccacagccttacGggataccatcttggagctgg	12	12	1	1	rs140882390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000266003.5_Missense_Mutation_p.R4C|MLN_ENST00000507738.1_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	4					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21133	0.001		0.001	False		,,,				2504	0.0072					ENST00000430124.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(10-12)Cgt>Tgt		motilin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	79	69	73		10,10,10	-3	0.7	6	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	180,180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	4/115,4/109,4/116	33768931	3,13003	2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768931G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"Endogenous ligands"	7141	protein-coding gene	gene with protein product	"prepromotilin"	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.10C>T	6.37:g.33768931G>A	ENSP00000388825:p.Arg4Cys					MLN_ENST00000266003.5_Missense_Mutation_p.R4C|MLN_ENST00000507738.1_Missense_Mutation_p.R4C	p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN			2	75	-			4					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.10C>T	CCDS4786.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.77	2.039020	0.35989	0.0	3.49E-4	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.49720	0.77;0.77;0.77	5.43	-3.03	0.05429	.	0.976877	0.08403	N	0.951111	T	0.13927	0.0337	L	0.42744	1.35	0.24797	N	0.992721	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.29640	-1.0005	10	0.52906	T	0.07	-1.6005	1.2522	0.01984	0.4245:0.1104:0.2712:0.1939	.	4;4;4	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	C	4	ENSP00000388825:R4C;ENSP00000266003:R4C;ENSP00000425467:R4C	ENSP00000266003:R4C	R	-	1	0	MLN	33876909	0.003000	0.15002	0.696000	0.30242	0.777000	0.43975	-0.499000	0.06413	-0.404000	0.07610	0.655000	0.94253	CGT		0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			84	356	0	0	0	1	0	84	356					A	33768931	G	A	33768931	3	1	79	1	0	0	0	0	1	0	0	0	9672	1116	39	1	353	1	MLN	6	33768931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16753	33768931	137346136	7314	17631											
GRM4	2914	broad.mit.edu	37	chr6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgaggctgcgcttgcGcttgggcacgttctgctccg	15	12	1	1	rs376715421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	856					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGCGCTTGCGCTTGGGCACG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.001		0.0	False		,,,				2504	0.0					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2566-2568)Cgc>Tgc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	100	106		2566	4.2	1	6		106	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	856/913	33996020	1,13005	2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:33996020G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2566C>T	6.37:g.33996020G>A	ENSP00000440556:p.Arg856Cys					GRM4_ENST00000545715.1_Missense_Mutation_p.R548C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000538487.1_Missense_Mutation_p.R856C|GRM4_ENST00000544773.1_Missense_Mutation_p.R687C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C	p.R856C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			9	2735	-			856					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2566C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059421	0.93846	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.2;-2.25;-2.27;-2.45;-2.29	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.90480	0.7018	M	0.71206	2.165	0.80722	D	1	B;D;D;D;D	0.76494	0.175;0.972;0.999;0.997;0.989	B;P;P;P;P	0.56916	0.039;0.582;0.809;0.649;0.677	D	0.89596	0.3831	10	0.37606	T	0.19	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	856;740;548;723;687;856;716	ENSP00000363296:R856C;ENSP00000363292:R740C;ENSP00000445533:R548C;ENSP00000437925:R723C;ENSP00000437730:R687C;ENSP00000440556:R856C;ENSP00000398456:R716C	ENSP00000363292:R740C	R	-	1	0	GRM4	34103998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.370000	0.73114	2.160000	0.67779	0.478000	0.44815	CGC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			116	459	0	0	0	1	0	116	459					A	33996020	G	A	33996020	3	1	79	1	0	0	0	0	1	0	0	0	6829	1087	38	1	180	1	GRM4	6	33996020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227089	33996020	137119047	7315	17632											
GRM4	2914	broad.mit.edu	37	chr6	34004315	34004315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccgctcacccggttgGcagggcaggctgcagatgga	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.C524C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	524					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCCGGTTGGCAGGGCAGGC	0.627																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1570-1572)tgC>tgT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						49	43	45					6																	34004315		2202	4300	6502	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004315G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1572C>T	6.37:g.34004315G>A						GRM4_ENST00000545715.1_Silent_p.C216C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000538487.1_Silent_p.C524C|GRM4_ENST00000544773.1_Silent_p.C355C|GRM4_ENST00000374177.3_Silent_p.C408C	p.C524C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1741	-			524					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1572C>T	CCDS4787.1																																																																																				0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			69	299	0	0	0	1	0	69	299					A	34004315	G	A	34004315	2	1	79	1	0	0	0	0	0	0	0	1	6829	1195	42	2		2	GRM4	6	34004315	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	34004315	137110752	7316	17633											
PACSIN1	29993	broad.mit.edu	37	chr6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgacacgggagatgaacaGcaagacggagcaatcggtca	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	177	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(529-531)aGc>aTc		protein kinase C and casein kinase substrate in neurons 1							120	102	108					6																	34497247		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34497247G>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.530G>T	6.37:g.34497247G>T	ENSP00000439639:p.Ser177Ile					PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000486120.1_3'UTR	p.S177I	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			5	775	+			177					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.530G>T	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.42513	0.97;2.54;0.97	3.83	3.83	0.44106	.	0.244310	0.43919	D	0.000517	T	0.32071	0.0817	M	0.69823	2.125	0.53005	D	0.999966	B	0.17852	0.024	B	0.16722	0.016	T	0.42699	-0.9436	10	0.62326	D	0.03	-11.3885	15.9069	0.79436	0.0:0.0:1.0:0.0	.	177	Q9BY11	PACN1_HUMAN	I	177;135;177;177	ENSP00000244458:S177I;ENSP00000363155:S135I;ENSP00000439639:S177I	ENSP00000244458:S177I	S	+	2	0	PACSIN1	34605225	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.590000	0.82653	2.127000	0.65507	0.557000	0.71058	AGC		0.562	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			24	285	1	0	1.64293e-13	1	1.77503e-13	24	285					T	34497247	G	T	34497247	3	4	79	1	0	0	0	0	1	0	0	0	11416	971	34	3	544	3	PACSIN1	6	34497247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492932	34497247	136617820	7317	17634											
PACSIN1	29993	broad.mit.edu	37	chr6	34499506	34499506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgactccaagggagtgcgCgtgcgggcactctacgacta	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000244458.2_Silent_p.R389R|PACSIN1_ENST00000374043.2_Silent_p.R347R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1165-1167)cgC>cgT		protein kinase C and casein kinase substrate in neurons 1							89	96	94					6																	34499506		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis		protein kinase activity	g.chr6:34499506C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1167C>T	6.37:g.34499506C>T						PACSIN1_ENST00000374043.2_Silent_p.R347R|PACSIN1_ENST00000244458.2_Silent_p.R389R	p.R389R	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1412	+			389			SH3.		Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.1167C>T	CCDS4793.1																																																																																				0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			206	897	0	0	0	1	0	206	897					T	34499506	C	T	34499506	2	4	79	1	0	0	0	0	0	0	0	1	11416	755	27	1		1	PACSIN1	6	34499506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2259	34499506	136615561	7318	17635											
C6orf106	64771	broad.mit.edu	37	chr6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactcctaaaagtccacccAcctccacactgagaatcacc	3	17	1	1	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463																																						ENST00000374023.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(541-543)gTg>gCg		chromosome 6 open reading frame 106							68	61	63					6																	34574651		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34574651A>G	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.542T>C	6.37:g.34574651A>G	ENSP00000363135:p.Val181Ala					C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	p.V181A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN			4	785	-			181					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.542T>C	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	A	9.088	1.001044	0.19121	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	N	0.02665	-0.54	0.45477	D	0.998447	B;B	0.11235	0.002;0.004	B;B	0.13407	0.009;0.006	T	0.23619	-1.0183	9	0.11182	T	0.66	-9.5435	10.0971	0.42482	0.9248:0.0:0.0752:0.0	.	115;181	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	A	181;115;107	.	ENSP00000363133:V107A	V	-	2	0	C6orf106	34682629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.165000	0.71891	2.164000	0.68074	0.454000	0.30748	GTG		0.463	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		55	331	0	0	0	1	0	55	331					G	34574651	A	G	34574651	3	3	79	1	0	0	0	0	1	0	0	0	2326	159	6	4	362	4	C6orf106	6	34574651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75145	34574651	136540416	7319	17636											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctggagctggatgaagaGgttctacagaatgtactgga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	44							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(130-132)gaG>gaT		UHRF1 binding protein 1							83	84	84					6																	34789517		1954	4155	6109	SO:0001583	missense	54887							g.chr6:34789517G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.132G>T	6.37:g.34789517G>T	ENSP00000192788:p.Glu44Asp					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			2	303	+			44					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.132G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414584	0.83449	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82526	-1.62;-1.62	5.79	2.01	0.26516	.	0.059459	0.64402	D	0.000003	T	0.81791	0.4897	L	0.48642	1.525	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.51188	T	0.08	-24.7211	10.1509	0.42794	0.3296:0.0:0.6704:0.0	.	44	Q6BDS2	URFB1_HUMAN	D	44	ENSP00000192788:E44D;ENSP00000400628:E44D	ENSP00000192788:E44D	E	+	3	2	UHRF1BP1	34897495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	0.370000	0.24538	0.557000	0.71058	GAG		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		28	298	1	0	7.38237e-10	1	7.79401e-10	28	298					T	34789517	G	T	34789517	3	4	79	1	0	0	0	0	1	0	0	0	17022	991	35	3	138	3	UHRF1BP1	6	34789517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214866	34789517	136325550	7320	17637											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803134	34803134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgacctgctctgggtgCtgactgactcacagctcaag	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	245							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(733-735)Ctg>Ttg		UHRF1 binding protein 1							127	129	128					6																	34803134		2110	4234	6344	SO:0001819	synonymous_variant	54887							g.chr6:34803134C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.733C>T	6.37:g.34803134C>T						UHRF1BP1_ENST00000452449.2_Silent_p.L245L	p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			7	904	+			245					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.733C>T	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		78	342	0	0	0	1	0	78	342					T	34803134	C	T	34803134	2	4	79	1	0	0	0	0	0	0	0	1	17022	796	28	2		2	UHRF1BP1	6	34803134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13617	34803134	136311933	7321	17638											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824616	34824616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgagagaagcccctctcaGggcagacagcctgcctttca	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34824616G>T	ENST00000192788.5	+	11	1512	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	447							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCTCTCAGGGCAGACAGC	0.488																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1339-1341)caG>caT		UHRF1 binding protein 1							89	86	87					6																	34824616		1891	4110	6001	SO:0001583	missense	54887							g.chr6:34824616G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1341G>T	6.37:g.34824616G>T	ENSP00000192788:p.Gln447His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			11	1512	+			447					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1341G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	2.981	-0.210263	0.06140	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08807	3.05;3.05	5.93	3.06	0.35304	.	0.411838	0.25205	N	0.032357	T	0.00637	0.0021	N	0.00841	-1.15	0.28030	N	0.934187	B	0.10296	0.003	B	0.08055	0.003	T	0.48636	-0.9018	10	0.15952	T	0.53	-6.1459	5.2525	0.15529	0.0746:0.2348:0.5256:0.165	.	447	Q6BDS2	URFB1_HUMAN	H	447	ENSP00000192788:Q447H;ENSP00000400628:Q447H	ENSP00000192788:Q447H	Q	+	3	2	UHRF1BP1	34932594	0.432000	0.25554	0.998000	0.56505	0.426000	0.31534	0.775000	0.26689	1.526000	0.49068	-0.150000	0.13652	CAG		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		17	436	1	0	6.94344e-10	1	7.33246e-10	17	436					T	34824616	G	T	34824616	3	4	79	1	0	0	0	0	1	0	0	0	17022	991	35	3	1383	3	UHRF1BP1	6	34824616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21482	34824616	136290451	7322	17639											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827139	34827139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggcagggagactgctgtGaatggacagggtgagctcat	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34827139G>A	ENST00000192788.5	+	14	3177	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1002							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGACTGCTGTGAATGGACAGG	0.537																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3004-3006)gtG>gtA		UHRF1 binding protein 1							62	66	65					6																	34827139		2046	4177	6223	SO:0001819	synonymous_variant	54887							g.chr6:34827139G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3006G>A	6.37:g.34827139G>A						UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	3177	+			1002					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3006G>A	CCDS43455.1																																																																																				0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		12	356	0	0	0	1	0	12	356					A	34827139	G	A	34827139	2	1	79	1	0	0	0	0	0	0	0	1	17022	1277	45	2		2	UHRF1BP1	6	34827139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2523	34827139	136287928	7323	17640											
ANKS1A	23294	broad.mit.edu	37	chr6	34935091	34935091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgctgctttgaatggCcataagtaagtatcaatgta	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	91					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(271-273)ggC>ggT		ankyrin repeat and sterile alpha motif domain containing 1A							241	204	217					6																	34935091		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935091C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.273C>T	6.37:g.34935091C>T						ANKS1A_ENST00000535627.1_Silent_p.G91G	p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			2	411	+			91					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.273C>T	CCDS4798.1																																																																																				0.463	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		53	321	0	0	0	1	0	53	321					T	34935091	C	T	34935091	2	4	79	1	0	0	0	0	0	0	0	1	688	726	26	2		2	ANKS1A	6	34935091	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107952	34935091	136179976	7324	17641											
ANKS1A	23294	broad.mit.edu	37	chr6	34937945	34937945	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagagtcaatgaacaggTcggaaggaagggaggctttc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e3+2		ankyrin repeat and sterile alpha motif domain containing 1A							100	78	85					6																	34937945		2203	4300	6503	SO:0001630	splice_region_variant	23294					cytoplasm	protein binding	g.chr6:34937945T>C	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.435+2T>C	6.37:g.34937945T>C						ANKS1A_ENST00000535627.1_Splice_Site		NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			3	573	+								A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	37		CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026314	0.93518	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35045923	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	6.290000	0.72712	2.367000	0.80283	0.528000	0.53228	.		0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	Intron	43	169	0	0	0	1	0	43	169					C	34937945	T	C	34937945	5	2	79	1	0	0	0	0	0	0	1	0	688	1681	58	4	447	4	ANKS1A	6	34937945	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2854	34937945	136177122	7325	17642											
ANKS1A	23294	broad.mit.edu	37	chr6	34953057	34953057	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggagtgaggcctgTatgtgacccggggcttacac	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8+2		ankyrin repeat and sterile alpha motif domain containing 1A							48	49	49					6																	34953057		2203	4300	6503	SO:0001630	splice_region_variant	23294					cytoplasm	protein binding	g.chr6:34953057T>G	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1209+2T>G	6.37:g.34953057T>G						ANKS1A_ENST00000535627.1_Intron		NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			8	1347	+								A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	37		CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054514	0.75960	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35061035	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.896000	0.63222	2.180000	0.69256	0.533000	0.62120	.		0.622	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	Intron	22	254	0	0	0	1	0	22	254					G	34953057	T	G	34953057	5	3	79	1	0	0	0	0	0	0	1	0	688	1652	57	4	1241	4	ANKS1A	6	34953057	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15112	34953057	136162010	7326	17643											
ANKS1A	23294	broad.mit.edu	37	chr6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccactagcaaacccaaagCtgaactcaaactcagccgca	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	615					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1843-1845)gCt>gAt		ankyrin repeat and sterile alpha motif domain containing 1A							115	134	128					6																	34985670		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985670C>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1844C>A	6.37:g.34985670C>A	ENSP00000353518:p.Ala615Asp					ANKS1A_ENST00000535627.1_Intron	p.A615D	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	1982	+			615					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1844C>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800076	0.50208	.	.	ENSG00000064999	ENST00000360359	T	0.39997	1.05	5.41	4.54	0.55810	.	0.000000	0.48767	D	0.000161	T	0.45657	0.1353	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51356	-0.8716	10	0.72032	D	0.01	-10.4424	12.7754	0.57443	0.0:0.9237:0.0:0.0763	.	615	Q92625	ANS1A_HUMAN	D	615	ENSP00000353518:A615D	ENSP00000353518:A615D	A	+	2	0	ANKS1A	35093648	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.361000	0.44160	1.416000	0.47057	0.655000	0.94253	GCT		0.582	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		238	964	1	0	3.0435e-71	1	3.86941e-71	238	964					A	34985670	C	A	34985670	3	1	79	1	0	0	0	0	1	0	0	0	688	797	28	3	1886	3	ANKS1A	6	34985670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32613	34985670	136129397	7327	17644											
SCUBE3	222663	broad.mit.edu	37	chr6	35210976	35210976	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagagccgatggagtcCtgtaggcccgggcagcaccg	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(1870-1872)tcC>tcA		signal peptide, CUB domain, EGF-like 3							40	49	46					6																	35210976		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210976C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1872C>A	6.37:g.35210976C>A						SCUBE3_ENST00000394681.1_Silent_p.S640S	p.S624S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			15	1872	+			624						Silent	SNP	ENST00000274938.7	37	c.1872C>A	CCDS4800.1																																																																																				0.632	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		77	296	1	0	2.51111e-31	1	2.95558e-31	77	296					A	35210976	C	A	35210976	2	1	79	1	0	0	0	0	0	0	0	1	13996	668	24	3		3	SCUBE3	6	35210976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225306	35210976	135904091	7328	17645											
ZNF76	7629	broad.mit.edu	37	chr6	35254112	35254112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacagaagctctctccttTgaggatggtcagcctgtgca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	56	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(166-168)ttT>ttC		zinc finger protein 76							101	81	88					6																	35254112		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35254112T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.168T>C	6.37:g.35254112T>C						ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			4	434	+			56			3 X 12 AA approximate repeats.		Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.168T>C	CCDS4801.1																																																																																				0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		33	205	0	0	0	1	0	33	205					C	35254112	T	C	35254112	2	2	79	1	0	0	0	0	0	0	0	1	18188	1809	63	4		4	ZNF76	6	35254112	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43136	35254112	135860955	7329	17646											
ZNF76	7629	broad.mit.edu	37	chr6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccatcctggccgTacagacagaggtgggcttgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(337-339)gTa>gCa		zinc finger protein 76							105	91	95					6																	35255528		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255528T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.338T>C	6.37:g.35255528T>C	ENSP00000363064:p.Val113Ala					ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	p.V113A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	604	+			113					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.338T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146691	0.37923	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09445	2.98;3.01;2.99;3.0	5.17	5.17	0.71159	.	0.000000	0.38897	N	0.001531	T	0.12518	0.0304	L	0.39397	1.21	0.45852	D	0.998718	P;D;B;B	0.61697	0.745;0.99;0.093;0.029	B;P;B;B	0.57371	0.251;0.819;0.026;0.012	T	0.01130	-1.1442	10	0.72032	D	0.01	.	14.3428	0.66639	0.0:0.0:0.0:1.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	A	113;113;113;113;87;113	ENSP00000419106:V113A;ENSP00000363064:V113A;ENSP00000392243:V87A;ENSP00000344097:V113A	ENSP00000229405:V113A	V	+	2	0	ZNF76	35363506	1.000000	0.71417	0.980000	0.43619	0.001000	0.01503	7.493000	0.81493	2.167000	0.68274	0.533000	0.62120	GTA		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		41	171	0	0	0	1	0	41	171					C	35255528	T	C	35255528	3	2	79	1	0	0	0	0	1	0	0	0	18188	1638	57	4	352	4	ZNF76	6	35255528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1416	35255528	135859539	7330	17647											
DEF6	50619	broad.mit.edu	37	chr6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagatgagcgcctcagAcacgcgccagcgccaggagt	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000542066.1_Missense_Mutation_p.D41V|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	296	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(886-888)gAc>gTc		differentially expressed in FDCP 6 homolog (mouse)							45	41	42					6																	35285747		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35285747A>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.887A>T	6.37:g.35285747A>T	ENSP00000319831:p.Asp296Val					DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.D41V	p.D296V	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			6	892	+			296			PH.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.887A>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306036	0.95629	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32988	1.43;2.53	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.987;0.987	T	0.66622	-0.5877	10	0.87932	D	0	-36.6858	13.9142	0.63887	1.0:0.0:0.0:0.0	.	41;296;296	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	V	41;296	ENSP00000442166:D41V;ENSP00000319831:D296V	ENSP00000319831:D296V	D	+	2	0	DEF6	35393725	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.035000	0.60131	0.377000	0.23210	GAC		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		19	110	0	0	0	1	0	19	110					T	35285747	A	T	35285747	3	4	79	1	0	0	0	0	1	0	0	0	4397	275	10	5	909	5	DEF6	6	35285747	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30219	35285747	135829320	7331	17648											
PPARD	5467	broad.mit.edu	37	chr6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccaggacaccatcctgcGtgccctcgaattccacctgc	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000418635.2_Missense_Mutation_p.R281H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	379	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R379H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627																																						ENST00000311565.4																			1	Substitution - Missense(1)	p.R379H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1135-1137)cGt>cAt		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						112	98	103					6																	35393666		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393666G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1136G>A	6.37:g.35393666G>A	ENSP00000310928:p.Arg379His					PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H	p.R379H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			9	1485	+			379			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1136G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922548	0.33908	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.05	2.1	0.27182	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.453737	0.25708	N	0.028835	T	0.81997	0.4941	N	0.04335	-0.225	0.38358	D	0.944533	D;P;P	0.53151	0.958;0.882;0.95	P;B;B	0.44359	0.447;0.443;0.443	T	0.80141	-0.1506	10	0.17832	T	0.49	.	8.4014	0.32588	0.349:0.0:0.651:0.0	.	281;340;379	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	H	340;379;281;379;276	ENSP00000414372:R340H;ENSP00000353916:R379H;ENSP00000413314:R281H;ENSP00000310928:R379H;ENSP00000443759:R276H	ENSP00000310928:R379H	R	+	2	0	PPARD	35501644	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	1.886000	0.39688	0.434000	0.26340	0.561000	0.74099	CGT		0.627	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		71	262	0	0	0	1	0	71	262					A	35393666	G	A	35393666	3	1	79	1	0	0	0	0	1	0	0	0	12340	1145	40	1	1183	1	PPARD	6	35393666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107919	35393666	135721401	7332	17649											
RPL10A	4736	broad.mit.edu	37	chr6	35438416	35438416	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagacgatgagcttgtgtaTaacattcacctggctgtcaa	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	ENST00000322203.6	+	6	570	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	181					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AGCTTGTGTATAACATTCACC	0.502																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(541-543)taT>taA		ribosomal protein L10a							135	122	126					6																	35438416		2203	4300	6503	SO:0001587	stop_gained	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438416T>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.543T>A	6.37:g.35438416T>A	ENSP00000363018:p.Tyr181*					RPL10A_ENST00000467020.1_3'UTR	p.Y181*	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			6	570	+			181					B2R801|P52859|P53025|Q5TZT6|Q8J013	Nonsense_Mutation	SNP	ENST00000322203.6	37	c.543T>A	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728087	0.48833	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.67	-0.317	0.12736	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.8598	0.35249	0.0:0.5867:0.0:0.4133	.	.	.	.	X	181	.	ENSP00000363018:Y181X	Y	+	3	2	RPL10A	35546394	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	1.733000	0.38156	-0.163000	0.10946	-0.441000	0.05720	TAT		0.502	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		10	334	0	0	0	1	0	10	334					A	35438416	T	A	35438416	4	1	79	1	0	0	0	0	0	1	0	0	13605	1413	49	5	565	5	RPL10A	6	35438416	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44750	35438416	135676651	7333	17650											
TEAD3	7005	broad.mit.edu	37	chr6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgatcatgtactcgcAcatgggcgagcggtggatac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000402886.3	-	10	1075	c.922T>C	c.(922-924)Tgc>Cgc	p.C308R	TEAD3_ENST00000338863.7_Missense_Mutation_p.C368R			Q99594	TEAD3_HUMAN	TEA domain family member 3	368	Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557																																						ENST00000338863.7																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(1102-1104)Tgc>Cgc		TEA domain family member 3							99	97	98					6																	35443205		2203	4300	6503	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35443205A>G	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.922T>C	6.37:g.35443205A>G	ENSP00000384577:p.Cys308Arg					TEAD3_ENST00000402886.3_Missense_Mutation_p.C308R	p.C368R	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			12	1329	-			368			Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37	c.1102T>C		.	.	.	.	.	.	.	.	.	.	A	21.0	4.076978	0.76415	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	T;T	0.32988	1.43;1.43	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73575	-0.3939	10	0.87932	D	0	-32.1485	14.5092	0.67772	1.0:0.0:0.0:0.0	.	308;384;368	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	R	368;308;384	ENSP00000345772:C368R;ENSP00000384577:C308R	ENSP00000345772:C368R	C	-	1	0	TEAD3	35551183	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.265000	0.95647	2.023000	0.59567	0.374000	0.22700	TGC		0.557	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			30	312	0	0	0	1	0	30	312					G	35443205	A	G	35443205	3	3	79	1	0	0	0	0	1	0	0	0	15792	159	6	4	213	4	TEAD3	6	35443205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4789	35443205	135671862	7334	17651											
TULP1	7287	broad.mit.edu	37	chr6	35466170	35466170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctgcagggcgcacagCgggtaccggtagtctagggt	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	521					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1561-1563)ccG>ccA		tubby like protein 1							45	45	45					6																	35466170		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35466170C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1563G>A	6.37:g.35466170C>T						TULP1_ENST00000322263.4_Silent_p.P468P	p.P521P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			15	1642	-			521					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1563G>A	CCDS4807.1																																																																																				0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			32	141	0	0	0	1	0	32	141					T	35466170	C	T	35466170	2	4	79	1	0	0	0	0	0	0	0	1	16827	755	27	1		1	TULP1	6	35466170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22965	35466170	135648897	7335	17652											
FKBP5	2289	broad.mit.edu	37	chr6	35587999	35587999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcacagtaaatggcatatCtctcctttcttcatggtagc	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000539068.1	-	4	505	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	101	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433																																						ENST00000542713.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(301-303)gaG>gaA		FK506 binding protein 5							165	136	146					6																	35587999		2203	4300	6503	SO:0001819	synonymous_variant	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35587999C>T	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.303G>A	6.37:g.35587999C>T						FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Silent_p.E101E|FKBP5_ENST00000539068.1_Silent_p.E101E	p.E101E	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN			4	460	-			101			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	37	c.303G>A	CCDS4808.1																																																																																				0.433	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			83	297	0	0	0	1	0	83	297					T	35587999	C	T	35587999	2	4	79	1	0	0	0	0	0	0	0	1	5936	912	32	2		2	FKBP5	6	35587999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121829	35587999	135527068	7336	17653											
C6orf81	221481	broad.mit.edu	37	chr6	35704922	35704922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaatacctggggcaactgGacatccgcaaaagcgtagtc	10	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35704922G>A	ENST00000373866.3	+	1	59	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ARMC12_ENST00000288065.2_Missense_Mutation_p.D13N|ARMC12_ENST00000373869.3_Missense_Mutation_p.D13N|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	13						nucleus (GO:0005634)											GGGGCAACTGGACATCCGCAA	0.612											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373866.3																			0											c.(37-39)Gac>Aac		armadillo repeat containing 12							84	82	82					6																	35704922		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35704922G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.37G>A	6.37:g.35704922G>A	ENSP00000362973:p.Asp13Asn		OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000288065.2_Missense_Mutation_p.D13N|ARMC12_ENST00000373869.3_Missense_Mutation_p.D13N	p.D13N			Q5T9G4	CF081_HUMAN			1	59	+			13					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.37G>A		.	.	.	.	.	.	.	.	.	.	G	10.97	1.502963	0.26949	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.45276	0.9;0.9;0.9	5.04	1.21	0.21127	.	0.539313	0.16857	N	0.196710	T	0.10594	0.0259	L	0.27053	0.805	0.21256	N	0.999746	B;B	0.14438	0.004;0.01	B;B	0.11329	0.004;0.006	T	0.27191	-1.0081	10	0.33940	T	0.23	-10.3233	6.7343	0.23401	0.3845:0.0:0.6155:0.0	.	13;13	Q5T9G4-3;Q5T9G4-2	.;.	N	13	ENSP00000362976:D13N;ENSP00000288065:D13N;ENSP00000362973:D13N	ENSP00000288065:D13N	D	+	1	0	C6orf81	35812900	0.997000	0.39634	0.983000	0.44433	0.346000	0.29079	1.065000	0.30592	0.549000	0.28973	0.449000	0.29647	GAC		0.612	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		70	298	0	0	0	1	0	70	298					A	35704922	G	A	35704922	3	1	79	1	0	0	0	0	1	0	0	0	2379	1174	41	2	39	2	C6orf81	6	35704922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116923	35704922	135410145	7337	17654											
C6orf81	221481	broad.mit.edu	37	chr6	35705059	35705059	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcgcccgtgagtgtccGggccctggggagagggctct	17	12	1	2	rs56183341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705059G>A	ENST00000373866.3	+	1	185				ARMC12_ENST00000288065.2_Silent_p.P58P|ARMC12_ENST00000373869.3_Intron|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											GTGAGTGTCCGGGCCCTGGGG	0.612											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	43	0.00858626	0.0295	0.0014	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.0031					ENST00000288065.2																			0											c.(172-174)ccG>ccA		armadillo repeat containing 12		G		106,4300	81.9+/-120.4	1,104,2098	68	64	65		174	-0.4	0	6	dbSNP_129	65	0,8600		0,0,4300	no	coding-synonymous	C6orf81	NM_145028.3		1,104,6398	AA,AG,GG		0.0,2.4058,0.815		58/368	35705059	106,12900	2203	4300	6503	SO:0001627	intron_variant	221481						binding	g.chr6:35705059G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.163+11G>A	6.37:g.35705059G>A			OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000373866.3_Intron|ARMC12_ENST00000373869.3_Intron	p.P58P	NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN			1	201	+			55					Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.174G>A																																																																																					0.612	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		45	235	0	0	0	1	0	45	235					A	35705059	G	A	35705059	1	1	79	0	1	0	0	0	0	0	0	0	2379	1103	39	1		1	C6orf81	6	35705059	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	35705059	135410008	7338	17655											
C6orf81	221481	broad.mit.edu	37	chr6	35705130	35705130	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgggagggcccaaagGtgatgcctccaagttcctct	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705130G>A	ENST00000373866.3	+	1	185				ARMC12_ENST00000288065.2_Splice_Site|ARMC12_ENST00000373869.3_Intron|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											GGGCCCAAAGGTGATGCCTCC	0.622											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288065.2																			0											c.e1+1		armadillo repeat containing 12							47	48	47					6																	35705130		2203	4300	6503	SO:0001627	intron_variant	221481						binding	g.chr6:35705130G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.163+82G>A	6.37:g.35705130G>A			OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000373866.3_Intron|ARMC12_ENST00000373869.3_Intron		NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN			1	271	+								Q8NEB2|Q96LL8	Splice_Site	SNP	ENST00000373866.3	37			.	.	.	.	.	.	.	.	.	.	G	15.66	2.900133	0.52227	.	.	ENSG00000157343	ENST00000288065	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2768	0.54739	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf81	35813108	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.670000	0.46833	2.270000	0.75569	0.456000	0.33151	.		0.622	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		28	257	0	0	0	1	0	28	257					A	35705130	G	A	35705130	1	1	79	0	1	0	0	0	0	0	0	0	2379	1275	44	2		2	C6orf81	6	35705130	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	35705130	135409937	7339	17656											
LHFPL5	222662	broad.mit.edu	37	chr6	35773690	35773690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagctcatctgcaagggCggccccctagacttctcctc	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000373853.1	+	1	621	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000360215.1_Silent_p.G81G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(241-243)ggC>ggT		lipoma HMGIC fusion partner-like 5							211	202	205					6																	35773690		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773690C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.243C>T	6.37:g.35773690C>T						LHFPL5_ENST00000373853.1_Silent_p.G81G	p.G81G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	620	+			81					B3KX66	Silent	SNP	ENST00000373853.1	37	c.243C>T	CCDS4812.1																																																																																				0.572	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		198	842	0	0	0	1	0	198	842					T	35773690	C	T	35773690	2	4	79	1	0	0	0	0	0	0	0	1	8800	755	27	1		1	LHFPL5	6	35773690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68560	35773690	135341377	7340	17657											
LHFPL5	222662	broad.mit.edu	37	chr6	35782385	35782385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcaagtgaggtgcggCgcatgtgtggggagcagacg	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782385C>T	ENST00000373853.1	+	2	853	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	LHFPL5_ENST00000360215.1_Missense_Mutation_p.R159C|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAGGTGCGGCGCATGTGTGG	0.627																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(475-477)Cgc>Tgc		lipoma HMGIC fusion partner-like 5							164	115	132					6																	35782385		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35782385C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.475C>T	6.37:g.35782385C>T	ENSP00000362960:p.Arg159Cys					LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000373853.1_Missense_Mutation_p.R159C	p.R159C	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	852	+			159					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.475C>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342054	0.81911	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73258	-0.73;-0.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86285	0.1670	10	0.66056	D	0.02	-10.6758	19.1576	0.93517	0.0:1.0:0.0:0.0	.	159	Q8TAF8	TMHS_HUMAN	C	159	ENSP00000362960:R159C;ENSP00000353346:R159C	ENSP00000353346:R159C	R	+	1	0	LHFPL5	35890363	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.242000	0.51384	2.541000	0.85698	0.561000	0.74099	CGC		0.627	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		14	405	0	0	0	1	0	14	405					T	35782385	C	T	35782385	3	4	79	1	0	0	0	0	1	0	0	0	8800	768	27	1	481	1	LHFPL5	6	35782385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8695	35782385	135332682	7341	17658											
LHFPL5	222662	broad.mit.edu	37	chr6	35782423	35782423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaagtacacgctgggCcactgcaccatccgctgggc	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000373853.1	+	2	891	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000360215.1_Silent_p.G171G|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	171					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(511-513)ggC>ggT		lipoma HMGIC fusion partner-like 5							181	111	135					6																	35782423		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35782423C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.513C>T	6.37:g.35782423C>T						LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000373853.1_Silent_p.G171G	p.G171G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	890	+			171					B3KX66	Silent	SNP	ENST00000373853.1	37	c.513C>T	CCDS4812.1																																																																																				0.622	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		57	303	0	0	0	1	0	57	303					T	35782423	C	T	35782423	2	4	79	1	0	0	0	0	0	0	0	1	8800	726	26	2		2	LHFPL5	6	35782423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	35782423	135332644	7342	17659											
SRPK1	6732	broad.mit.edu	37	chr6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatacttgctgaataatTtttttgacacaaggcagtgg	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000373821.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(571-573)aaA>aaC		SRSF protein kinase 1							89	82	84					6																	35842022		1843	4100	5943	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35842022T>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.573A>C	6.37:g.35842022T>G	ENSP00000362931:p.Lys191Asn					SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N	p.K191N			Q96SB4	SRPK1_HUMAN			7	858	-			191			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.573A>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834841	0.50951	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30479	0.0766	N	0.12961	0.28	0.43846	D	0.996439	B;P	0.36660	0.141;0.564	B;B	0.37480	0.087;0.251	T	0.29458	-1.0011	9	0.45353	T	0.12	-18.5937	5.8954	0.18937	0.0:0.1843:0.1347:0.681	.	175;191	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	191;207;175;84	ENSP00000362931:K191N;ENSP00000354674:K207N;ENSP00000391069:K175N;ENSP00000362928:K84N	ENSP00000354674:K207N	K	-	3	2	SRPK1	35950000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.950000	0.40323	1.151000	0.42436	0.533000	0.62120	AAA		0.353	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		17	65	0	0	0	1	0	17	65					G	35842022	T	G	35842022	3	3	79	1	0	0	0	0	1	0	0	0	15211	1838	64	4	1434	4	SRPK1	6	35842022	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59599	35842022	135273045	7343	17660											
SLC26A8	116369	broad.mit.edu	37	chr6	35912064	35912065	+	Frame_Shift_Ins	INS	-	-	T													tgatgaagcctggacttacaINStttttttggcttcctagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35912064_35912065insT	ENST00000490799.1	-	20	2878_2879	c.2525_2526insA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.N842fs	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2524-2526)agtfs		solute carrier family 26 (anion exchanger), member 8																																				SO:0001589	frameshift_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35912064_35912065insT	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2526dupA	6.37:g.35912071_35912071dupT	ENSP00000417638:p.Asn842fs					SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.S842fs|SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.S737fs	p.S842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			20	2878_2879	-			842			Interaction with RACGAP1.			Frame_Shift_Ins	INS	ENST00000490799.1	37	c.2525_2526insA	CCDS4813.1																																																																																				0.401	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			87	449						87	449	---	---	---	---	T	35912065	-	T	35912064	7	5	79	1	0	1	1	0	0	0	0	0	14573	214	8	0	390	0	SLC26A8	6	35912064	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	70042	35912064	135203003	7344	17661											
SLC26A8	116369	broad.mit.edu	37	chr6	35927364	35927364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaggcacctttaccataTcaacctgaaagacatgagag	8	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35927364T>C	ENST00000490799.1	-	16	2089	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTTTACCATATCAACCTGAAA	0.453																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1735-1737)gAt>gGt		solute carrier family 26 (anion exchanger), member 8							95	96	96					6																	35927364		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927364T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1736A>G	6.37:g.35927364T>C	ENSP00000417638:p.Asp579Gly					SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	p.D579G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			16	2089	-			579			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1736A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.201168	0.22121	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87103	-2.21;-2.21;-2.21	5.49	-2.78	0.05859	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.868246	0.10236	N	0.699075	T	0.47173	0.1431	N	0.20685	0.6	0.09310	N	1	B;B;B	0.18461	0.005;0.003;0.028	B;B;B	0.16722	0.011;0.005;0.016	T	0.48990	-0.8985	10	0.02654	T	1	.	6.4329	0.21807	0.0:0.3828:0.1352:0.482	.	579;474;161	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	G	579;474;579	ENSP00000417638:D579G;ENSP00000378100:D474G;ENSP00000347778:D579G	ENSP00000347778:D579G	D	-	2	0	SLC26A8	36035342	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.361000	0.20267	-0.844000	0.04184	-1.437000	0.01076	GAT		0.453	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			17	541	0	0	0	1	0	17	541					C	35927364	T	C	35927364	3	2	79	1	0	0	0	0	1	0	0	0	14573	1435	50	4	1196	4	SLC26A8	6	35927364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15300	35927364	135187703	7345	17662											
SLC26A8	116369	broad.mit.edu	37	chr6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaactcaccaatggacatttGatgacacgatccaaaaatta	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGGACATTTGATGACACGAT	0.403																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(433-435)Caa>Taa		solute carrier family 26 (anion exchanger), member 8							160	163	162					6																	35967781		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35967781G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.433C>T	6.37:g.35967781G>A	ENSP00000417638:p.Gln145*					SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	p.Q145*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			4	786	-			145						Nonsense_Mutation	SNP	ENST00000490799.1	37	c.433C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329593	0.98214	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.4	5.4	0.78164	.	0.163089	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0345	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000347778:Q145X	Q	-	1	0	SLC26A8	36075759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.694000	0.91930	0.655000	0.94253	CAA		0.403	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			86	808	0	0	0	1	0	86	808					A	35967781	G	A	35967781	4	1	79	1	0	0	0	0	0	1	0	0	14573	1299	45	2	2547	2	SLC26A8	6	35967781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40417	35967781	135147286	7346	17663											
BRPF3	27154	broad.mit.edu	37	chr6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttgaagcggcaggcaCggaatggtgtccctcttatc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	514					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1540-1542)Cgg>Tgg		bromodomain and PHD finger containing, 3							118	111	113					6																	36172526		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36172526C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1540C>T	6.37:g.36172526C>T	ENSP00000350267:p.Arg514Trp					BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W	p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			3	1793	+			514					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1540C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757713	0.49468	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.28255	1.88;1.99;1.98;1.99;1.98;1.62	5.43	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.53865	-0.8378	10	0.87932	D	0	.	13.1546	0.59509	0.7058:0.2942:0.0:0.0	.	514;514;514	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	514;514;514;514;514;514;60	ENSP00000350267:R514W;ENSP00000345419:R514W;ENSP00000434501:R514W;ENSP00000445352:R514W;ENSP00000387368:R514W;ENSP00000436504:R514W	ENSP00000345419:R514W	R	+	1	2	BRPF3	36280504	0.854000	0.29725	0.992000	0.48379	0.996000	0.88848	1.755000	0.38379	0.588000	0.29660	0.557000	0.71058	CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		104	570	0	0	0	1	0	104	570					T	36172526	C	T	36172526	3	4	79	1	0	0	0	0	1	0	0	0	1525	527	19	1	1546	1	BRPF3	6	36172526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204745	36172526	134942541	7347	17664											
BRPF3	27154	broad.mit.edu	37	chr6	36185695	36185695	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgtccttggcaggCatgaccaacggctttggaaa	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997G|BRPF3_ENST00000543502.1_Splice_Site_p.G727G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537																																						ENST00000357641.6																			1	Substitution - coding silent(1)	p.G997G(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.e9-1		bromodomain and PHD finger containing, 3							148	122	131					6																	36185695		2203	4300	6503	SO:0001630	splice_region_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185695C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2990-1C>T	6.37:g.36185695C>T						BRPF3_ENST00000543502.1_Splice_Site_p.G727_splice|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997_splice|BRPF3_ENST00000339717.7_Splice_Site_p.G727_splice	p.G997_splice	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			9	3244	+			997					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Splice_Site	SNP	ENST00000357641.6	37	c.2989_splice	CCDS34437.1																																																																																				0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	Silent	45	212	0	0	0	1	0	45	212					T	36185695	C	T	36185695	5	4	79	1	0	0	0	0	0	0	1	0	1525	724	25	2	3021	2	BRPF3	6	36185695	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13169	36185695	134929372	7348	17665											
BRPF3	27154	broad.mit.edu	37	chr6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaacacaccgaaagcGggtctgactctgaatgtagt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1009					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.G1009W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	0.512																																						ENST00000357641.6																			1	Substitution - Missense(1)	p.G1009W(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3025-3027)Ggg>Agg		bromodomain and PHD finger containing, 3							180	146	157					6																	36185729		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185729G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3025G>A	6.37:g.36185729G>A	ENSP00000350267:p.Gly1009Arg					BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R	p.G1009R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			9	3278	+			1009					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.3025G>A	CCDS34437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.660639|2.660639	0.47572|0.47572	.|.	.|.	ENSG00000096070|ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400|ENST00000394572	T;T;T;T|.	0.17691|.	2.47;2.26;2.26;2.3|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.311404|.	0.35970|.	N|.	0.002867|.	T|T	0.48554|0.48554	0.1506|0.1506	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.474;0.999|.	B;D|.	0.62955|.	0.124;0.909|.	T|T	0.48222|0.48222	-0.9054|-0.9054	10|6	0.12766|0.42905	T|T	0.61|0.14	.|.	20.1963|20.1963	0.98243|0.98243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;1009|.	Q17RB6;Q9ULD4|.	.;BRPF3_HUMAN|.	R|Q	1009;739;739;1009|422	ENSP00000350267:G1009R;ENSP00000345419:G739R;ENSP00000445352:G739R;ENSP00000436504:G1009R|.	ENSP00000345419:G739R|ENSP00000378073:R422Q	G|R	+|+	1|2	0|0	BRPF3|BRPF3	36293707|36293707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.998000|4.998000	0.63927|0.63927	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		59	251	0	0	0	1	0	59	251					A	36185729	G	A	36185729	3	1	79	1	0	0	0	0	1	0	0	0	1525	1116	39	1	3055	1	BRPF3	6	36185729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	36185729	134929338	7349	17666											
PNPLA1	285848	broad.mit.edu	37	chr6	36262089	36262089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcccggccatcttccaCgacttccgcatgttcaactg	8	16	2	0	rs187453727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		18421	0.0069		0.0	False		,,,				2504	0.0					ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(625-627)caC>caT		patatin-like phospholipase domain containing 1							103	83	90					6																	36262089		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262089C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.627C>T	6.37:g.36262089C>T						PNPLA1_ENST00000388715.3_Silent_p.H114H|PNPLA1_ENST00000312917.5_Silent_p.H123H	p.H209H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	627	+			209					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.627C>T	CCDS54997.1																																																																																				0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		79	348	0	0	0	1	0	79	348					T	36262089	C	T	36262089	2	4	79	1	0	0	0	0	0	0	0	1	12206	535	19	1		1	PNPLA1	6	36262089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76360	36262089	134852978	7350	17667											
C6orf222	389384	broad.mit.edu	37	chr6	36298366	36298366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcagggagagccaatgGcagtcccacgactccgagcc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(100-102)tgC>tgT		chromosome 6 open reading frame 222							53	59	57					6																	36298366		2203	4300	6503	SO:0001819	synonymous_variant	389384							g.chr6:36298366G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.102C>T	6.37:g.36298366G>A							p.C34C	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	279	-			34					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.102C>T	CCDS34439.1																																																																																				0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		109	488	0	0	0	1	0	109	488					A	36298366	G	A	36298366	2	1	79	1	0	0	0	0	0	0	0	1	2363	1195	42	2		2	C6orf222	6	36298366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36277	36298366	134816701	7351	17668											
ETV7	51513	broad.mit.edu	37	chr6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatttccccagagtctggCgagcccatttggatccacaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000340181.4	-	6	1025	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	262					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(619-621)Gcc>Acc		ets variant 7							198	181	187					6																	36336729		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36336729C>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.784G>A	6.37:g.36336729C>T	ENSP00000341843:p.Ala262Thr					ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000340181.4_Missense_Mutation_p.A262T	p.A207T	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			5	1464	-			262					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.619G>A	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221298	0.95139	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.143577	0.46145	U	0.000312	T	0.61874	0.2382	M	0.91818	3.245	0.58432	D	0.999995	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;0.999;1.0;0.998;1.0	T	0.74182	-0.3748	10	0.87932	D	0	.	16.1147	0.81301	0.0:1.0:0.0:0.0	.	203;185;207;262;207;262	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	262;262;185;207;111	ENSP00000342260:A262T;ENSP00000341843:A262T;ENSP00000362842:A185T;ENSP00000362843:A207T;ENSP00000440592:A111T	ENSP00000342260:A262T	A	-	1	0	ETV7	36444707	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.976000	0.76135	1.865000	0.54081	0.655000	0.94253	GCC		0.537	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		133	644	0	0	0	1	0	133	644					T	36336729	C	T	36336729	3	4	79	1	0	0	0	0	1	0	0	0	5302	768	27	1	253	1	ETV7	6	36336729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38363	36336729	134778338	7352	17669											
ETV7	51513	broad.mit.edu	37	chr6	36353333	36353333	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcttcctggcagcttgcaGatccccccttcacccagcag	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36353333G>T	ENST00000340181.4	-	2	361	c.120C>A	c.(118-120)atC>atA	p.I40I	ETV7_ENST00000373738.1_Silent_p.I40I|ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000538992.1_Intron|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000339796.5_Silent_p.I40I	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	40	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCAGCTTGCAGATCCCCCCTT	0.478																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(118-120)atC>atA		ets variant 7							99	102	101					6																	36353333		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36353333G>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.120C>A	6.37:g.36353333G>T						ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.I40I|ETV7_ENST00000340181.4_Silent_p.I40I	p.I40I	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			2	965	-			40			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.120C>A	CCDS4819.1																																																																																				0.478	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		11	603	1	0	1.61879e-10	1	1.71755e-10	11	603					T	36353333	G	T	36353333	2	4	79	1	0	0	0	0	0	0	0	1	5302	932	33	3		3	ETV7	6	36353333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16604	36353333	134761734	7353	17670											
CPNE5	57699	broad.mit.edu	37	chr6	36710162	36710162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgccttcatgtaggaCaccagttggtcagggatctc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	555						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCATGTAGGACACCAGTTGGT	0.687																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1663-1665)gtG>gtA		copine V							120	102	108					6																	36710162		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36710162C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1665G>A	6.37:g.36710162C>T						CPNE5_ENST00000393189.2_Silent_p.V263V|CPNE5_ENST00000459703.1_5'UTR	p.V555V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			21	2289	-			555					Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.1665G>A	CCDS4825.1																																																																																				0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		23	633	0	0	0	1	0	23	633					T	36710162	C	T	36710162	2	4	79	1	0	0	0	0	0	0	0	1	3824	465	17	2		2	CPNE5	6	36710162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356829	36710162	134404905	7354	17671											
CPNE5	57699	broad.mit.edu	37	chr6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcagtcagcgccagcGcgtaggcgttcagctggtag	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	360	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1078-1080)gCg>gTg		copine V							101	93	95					6																	36714294		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36714294G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1079C>T	6.37:g.36714294G>A	ENSP00000244751:p.Ala360Val					CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V|CPNE5_ENST00000459703.1_5'UTR	p.A360V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			16	1703	-			360			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1079C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437808	0.62955	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.22539	1.95;1.95	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.46614	1.455	0.80722	D	1	P	0.36412	0.552	B	0.38880	0.284	T	0.02797	-1.1109	10	0.49607	T	0.09	.	15.2842	0.73814	0.0:0.0:1.0:0.0	.	360	Q9HCH3	CPNE5_HUMAN	V	360;68	ENSP00000244751:A360V;ENSP00000376885:A68V	ENSP00000244751:A360V	A	-	2	0	CPNE5	36822272	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	3.686000	0.54685	2.193000	0.70182	0.491000	0.48974	GCG		0.612	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		53	298	0	0	0	1	0	53	298					A	36714294	G	A	36714294	3	1	79	1	0	0	0	0	1	0	0	0	3824	1087	38	1	726	1	CPNE5	6	36714294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4132	36714294	134400773	7355	17672											
CPNE5	57699	broad.mit.edu	37	chr6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtagtcgccgttgcagaggGctctcacgggaatggagaaa	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	238	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(712-714)gCc>gAc		copine V							191	155	167					6																	36742762		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36742762G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.713C>A	6.37:g.36742762G>T	ENSP00000244751:p.Ala238Asp						p.A238D	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			10	1337	-			238			C2 2.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.713C>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276253	0.40294	.	.	ENSG00000124772	ENST00000244751	T	0.38240	1.15	5.28	4.4	0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107348	0.64402	D	0.000007	T	0.12860	0.0312	N	0.10685	0.025	0.80722	D	1	B	0.24576	0.106	B	0.35899	0.213	T	0.11446	-1.0587	10	0.62326	D	0.03	.	12.2525	0.54605	0.0:0.3298:0.6702:0.0	.	238	Q9HCH3	CPNE5_HUMAN	D	238	ENSP00000244751:A238D	ENSP00000244751:A238D	A	-	2	0	CPNE5	36850740	1.000000	0.71417	0.994000	0.49952	0.302000	0.27658	9.282000	0.95840	1.187000	0.43000	0.448000	0.29417	GCC		0.522	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		38	140	1	0	8.69298e-16	1	9.51602e-16	38	140					T	36742762	G	T	36742762	3	4	79	1	0	0	0	0	1	0	0	0	3824	1203	42	3	1116	3	CPNE5	6	36742762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28468	36742762	134372305	7356	17673											
PPIL1	51645	broad.mit.edu	37	chr6	36824411	36824411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttcaaactgtttgccataGatagatgcaccacctcgacc	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	77	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458																																						ENST00000373699.5																			0				lung(1)|ovary(1)	2						c.(229-231)atC>atT		peptidylprolyl isomerase (cyclophilin)-like 1							121	107	112					6																	36824411		2203	4300	6503	SO:0001819	synonymous_variant	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36824411G>A	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.231C>T	6.37:g.36824411G>A						PPIL1_ENST00000483552.1_5'UTR	p.I77I	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN			3	482	-			77			PPIase cyclophilin-type.		O15001|Q5TDC9	Silent	SNP	ENST00000373699.5	37	c.231C>T	CCDS4826.1																																																																																				0.458	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			32	191	0	0	0	1	0	32	191					A	36824411	G	A	36824411	2	1	79	1	0	0	0	0	0	0	0	1	12373	932	33	2		2	PPIL1	6	36824411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81649	36824411	134290656	7357	17674											
FGD2	221472	broad.mit.edu	37	chr6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaagatctccttccGccgcaacgaccccatggagc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	332	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(994-996)cGc>cAc		FYVE, RhoGEF and PH domain containing 2							68	57	61					6																	36982780		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982780G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.995G>A	6.37:g.36982780G>A	ENSP00000274963:p.Arg332His						p.R332H	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			8	1166	+			332			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.995G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006673	0.93287	.	.	ENSG00000146192	ENST00000274963	T	0.78126	-1.15	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43260	D	0.000593	D	0.84279	0.5437	M	0.63843	1.955	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	0.4254	17.1483	0.86772	0.0:0.0:1.0:0.0	.	332	Q7Z6J4	FGD2_HUMAN	H	332	ENSP00000274963:R332H	ENSP00000274963:R332H	R	+	2	0	FGD2	37090758	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.847000	0.55895	2.367000	0.80283	0.561000	0.74099	CGC		0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		47	212	0	0	0	1	0	47	212					A	36982780	G	A	36982780	3	1	79	1	0	0	0	0	1	0	0	0	5858	1087	38	1	1025	1	FGD2	6	36982780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158369	36982780	134132287	7358	17675											
RNF8	9025	broad.mit.edu	37	chr6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaataaggaattgagaaCtaaaaggaaattcagtttgg	9	2	1	1	rs577308187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	152					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21089	0.0		0.0	False		,,,				2504	0.001					ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(454-456)aCt>aTt		ring finger protein 8, E3 ubiquitin protein ligase							50	52	51					6																	37336474		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336474C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.455C>T	6.37:g.37336474C>T	ENSP00000362578:p.Thr152Ile					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	648	+			152					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.455C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283628	0.80803	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.84442	-1.85;0.64;0.77	5.85	5.85	0.93711	.	0.187543	0.47455	D	0.000222	D	0.84370	0.5457	M	0.69823	2.125	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	D	0.86284	0.1669	10	0.62326	D	0.03	-4.7932	19.1613	0.93533	0.0:1.0:0.0:0.0	.	95;152	C9J858;O76064	.;RNF8_HUMAN	I	152;95;152	ENSP00000362578:T152I;ENSP00000417736:T95I;ENSP00000418879:T152I	ENSP00000362578:T152I	T	+	2	0	RNF8	37444452	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.212000	0.72188	2.768000	0.95171	0.655000	0.94253	ACT		0.358	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			60	263	0	0	0	1	0	60	263					T	37336474	C	T	37336474	3	4	79	1	0	0	0	0	1	0	0	0	13550	565	20	2	465	2	RNF8	6	37336474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353694	37336474	133778593	7359	17676											
RNF8	9025	broad.mit.edu	37	chr6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttctgctcctactgtAtcaatgaatggatgaagcgg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	427					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1279-1281)Atc>Gtc		ring finger protein 8, E3 ubiquitin protein ligase							155	144	147					6																	37348968		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37348968A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1279A>G	6.37:g.37348968A>G	ENSP00000362578:p.Ile427Val					RNF8_ENST00000469731.1_Intron	p.I427V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			7	1472	+			427					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1279A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804781	0.90623	.	.	ENSG00000112130	ENST00000373479	T	0.73258	-0.73	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74535	-0.3633	10	0.48119	T	0.1	-7.7491	15.6539	0.77118	1.0:0.0:0.0:0.0	.	427	O76064	RNF8_HUMAN	V	427	ENSP00000362578:I427V	ENSP00000362578:I427V	I	+	1	0	RNF8	37456946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	ATC		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			116	546	0	0	0	1	0	116	546					G	37348968	A	G	37348968	3	3	79	1	0	0	0	0	1	0	0	0	13550	449	16	4	1305	4	RNF8	6	37348968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12494	37348968	133766099	7360	17677											
FTSJD2	23070	broad.mit.edu	37	chr6	37441300	37441300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgctcacctctaaaaccCtggagaagatccgccctgtg	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37441300C>A	ENST00000373451.4	+	17	1908	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	582					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										CTCTAAAACCCTGGAGAAGAT	0.562																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1744-1746)Ctg>Atg									147	127	134					6																	37441300		2203	4300	6503	SO:0001583	missense	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37441300C>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1744C>A	6.37:g.37441300C>A	ENSP00000362550:p.Leu582Met						p.L582M	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			17	1908	+			582					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1744C>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635839	0.67130	.	.	ENSG00000137200	ENST00000373451	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.78916	2.43	0.54753	D	0.999983	D	0.63880	0.993	P	0.58331	0.837	T	0.75502	-0.3295	9	0.66056	D	0.02	-15.3338	14.328	0.66532	0.0:0.9289:0.0:0.0711	.	582	Q8N1G2	MTR1_HUMAN	M	582	.	ENSP00000362550:L582M	L	+	1	2	FTSJD2	37549278	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	1.627000	0.50400	0.655000	0.94253	CTG		0.562	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		89	433	1	0	1.26005e-42	1	1.53511e-42	89	433					A	37441300	C	A	37441300	3	1	79	1	0	0	0	0	1	0	0	0	6118	680	24	3	1806	3	FTSJD2	6	37441300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92332	37441300	133673767	7361	17678											
C6orf129	154467	broad.mit.edu	37	chr6	37452903	37452903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctcagctcccggctgTggagtctggagttcacggcc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37452903T>C	ENST00000373408.3	-	2	168	c.110A>G	c.(109-111)cAc>cGc	p.H37R		NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167	37						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCCGGCTGTGGAGTCTGGA	0.637																																						ENST00000373408.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(109-111)cAc>cGc		coiled-coil domain containing 167							47	46	47					6																	37452903		2203	4300	6503	SO:0001583	missense	154467					integral to membrane		g.chr6:37452903T>C		CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 129"	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.110A>G	6.37:g.37452903T>C	ENSP00000362507:p.His37Arg						p.H37R	NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN			2	168	-			37					Q5T7F7|Q9BTQ9	Missense_Mutation	SNP	ENST00000373408.3	37	c.110A>G	CCDS34441.1	.	.	.	.	.	.	.	.	.	.	T	0.444	-0.897061	0.02472	.	.	ENSG00000198937	ENST00000373408;ENST00000373405;ENST00000411755	.	.	.	5.77	0.429	0.16506	.	0.869682	0.10140	N	0.711001	T	0.03827	0.0108	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44907	-0.9297	8	0.02654	T	1	3.3212	7.9473	0.29993	0.0:0.5615:0.0:0.4385	.	37	Q9P0B6	CC167_HUMAN	R	37	.	ENSP00000362504:H37R	H	-	2	0	CCDC167	37560881	0.000000	0.05858	0.000000	0.03702	0.632000	0.37999	-0.033000	0.12246	0.089000	0.17243	0.459000	0.35465	CAC		0.637	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040417.1	NM_138493		43	284	0	0	0	1	0	43	284					C	37452903	T	C	37452903	3	2	79	1	0	0	0	0	1	0	0	0	2335	1696	59	4	195	4	C6orf129	6	37452903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11603	37452903	133662164	7362	17679											
MDGA1	266727	broad.mit.edu	37	chr6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagctctcatcatctctGcaacgccaagaggaagatgg	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.3	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	954					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2860-2862)Cag>Tag		MAM domain containing glycosylphosphatidylinositol anchor 1							40	45	43					6																	37605152		2031	4172	6203	SO:0001587	stop_gained	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37605152G>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2860C>T	6.37:g.37605152G>A	ENSP00000402584:p.Gln954*					MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	p.Q954*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			17	4038	-			954					A6NHG0|Q8NBE3	Nonsense_Mutation	SNP	ENST00000434837.3	37	c.2860C>T	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	50	16.214899	0.99857	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.77	3.88	0.44766	.	3.543960	0.00921	N	0.002591	.	.	.	.	.	.	0.24366	N	0.99486	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.8523	0.57864	0.0:0.1656:0.8344:0.0	.	.	.	.	X	954;958	.	ENSP00000297153:Q958X	Q	-	1	0	MDGA1	37713130	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.265000	0.58865	1.090000	0.41315	0.555000	0.69702	CAG		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			15	326	0	0	0	1	0	15	326					A	37605152	G	A	37605152	4	1	79	1	0	0	0	0	0	1	0	0	9447	1328	46	2	11	2	MDGA1	6	37605152	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152249	37605152	133509915	7363	17680											
MDGA1	266727	broad.mit.edu	37	chr6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcagctcaggatcattgCgggtcaccagcagccgcttg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.3	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	388	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(1162-1164)cGc>cAc		MAM domain containing glycosylphosphatidylinositol anchor 1							59	64	63					6																	37619936		2039	4162	6201	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37619936C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1163G>A	6.37:g.37619936C>T	ENSP00000402584:p.Arg388His					MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H|MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H	p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			7	2341	-			388			Ig-like 4.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.1163G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238185	0.79800	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000519	T	0.73385	0.3580	L	0.50993	1.605	0.47584	D	0.999464	D	0.89917	1.0	D	0.85130	0.997	T	0.71728	-0.4505	10	0.40728	T	0.16	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	388	Q8NFP4	MDGA1_HUMAN	H	388	ENSP00000402584:R388H;ENSP00000297153:R388H;ENSP00000422042:R388H	ENSP00000297153:R388H	R	-	2	0	MDGA1	37727914	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.214000	0.42853	2.524000	0.85096	0.655000	0.94253	CGC		0.587	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			59	323	0	0	0	1	0	59	323					T	37619936	C	T	37619936	3	4	79	1	0	0	0	0	1	0	0	0	9447	768	27	1	1748	1	MDGA1	6	37619936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14784	37619936	133495131	7364	17681											
BTBD9	114781	broad.mit.edu	37	chr6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgttgtgagtcccaAcaattcgaatatacctgacg	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000481247.1	-	7	1320	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	390					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388																																						ENST00000481247.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1168-1170)gTt>gGt		BTB (POZ) domain containing 9							91	85	87					6																	38312855		1836	4097	5933	SO:0001583	missense	114781				cell adhesion			g.chr6:38312855A>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1169T>G	6.37:g.38312855A>C	ENSP00000418751:p.Val390Gly					BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G	p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			7	1320	-			390					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1169T>G	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245619	0.39697	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.23;-4.85;-4.85	5.45	5.45	0.79879	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.86953	2.85	0.80722	D	1	B;D	0.59357	0.003;0.985	B;D	0.73708	0.003;0.981	D	0.99840	1.1061	10	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	360;390	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	322;390;360;390;322	ENSP00000323408:V322G;ENSP00000418751:V390G;ENSP00000415365:V360G;ENSP00000386121:V390G;ENSP00000386211:V322G	ENSP00000323408:V322G	V	-	2	0	BTBD9	38420833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.179000	0.89692	2.073000	0.62155	0.383000	0.25322	GTT		0.388	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		53	248	0	0	0	1	0	53	248					C	38312855	A	C	38312855	3	2	79	1	0	0	0	0	1	0	0	0	1552	43	2	4	689	4	BTBD9	6	38312855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	692919	38312855	132802212	7365	17682											
GLO1	2739	broad.mit.edu	37	chr6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatccagtagccatcaGgatcttgaataaatgccagg	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	167					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GTAGCCATCAGGATCTTGAAT	0.303																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(499-501)cCt>cTt		glyoxalase I	Glutathione(DB00143)						80	81	81					6																	38645126		2203	4300	6503	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38645126G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.500C>T	6.37:g.38645126G>A	ENSP00000362463:p.Pro167Leu					GLO1_ENST00000470973.1_5'UTR	p.P167L	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			6	586	-			167					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.500C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356336	0.82243	.	.	ENSG00000124767	ENST00000373365	T	0.60299	0.2	5.92	5.06	0.68205	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91455	0.5184	10	0.87932	D	0	-20.8734	15.1386	0.72590	0.0676:0.0:0.9324:0.0	.	167	Q04760	LGUL_HUMAN	L	167	ENSP00000362463:P167L	ENSP00000362463:P167L	P	-	2	0	GLO1	38753104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.763000	0.91715	1.518000	0.48934	-0.140000	0.14226	CCT		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		57	232	0	0	0	1	0	57	232					A	38645126	G	A	38645126	3	1	79	1	0	0	0	0	1	0	0	0	6478	1000	35	2	58	2	GLO1	6	38645126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332271	38645126	132469941	7366	17683											
DNAH8	1769	broad.mit.edu	37	chr6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaaaagcaatatgacattCtggatccaagaaggacagaa	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	415					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1243-1245)Ctg>Atg		dynein, axonemal, heavy chain 8							87	101	96					6																	38743659		2202	4284	6486	SO:0001583	missense	1769							g.chr6:38743659C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1243C>A	6.37:g.38743659C>A	ENSP00000352312:p.Leu415Met					DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M|DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M	p.L415M							11	1497	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1243C>A		.	.	.	.	.	.	.	.	.	.	C	17.00	3.277399	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64618	-0.11;-0.11;-0.11	5.93	4.17	0.49024	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000007	T	0.71584	0.3357	M	0.81497	2.545	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.75451	-0.3313	10	0.59425	D	0.04	.	11.2443	0.48987	0.0:0.8568:0.0:0.1432	.	415	Q96JB1	DYH8_HUMAN	M	620;620;415;415	ENSP00000333363:L620M;ENSP00000352312:L415M;ENSP00000402294:L415M	ENSP00000333363:L620M	L	+	1	2	DNAH8	38851637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.555000	0.45854	0.866000	0.35629	-0.150000	0.13652	CTG		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		73	438	1	0	5.72486e-32	1	6.75239e-32	73	438					A	38743659	C	A	38743659	3	1	79	1	0	0	0	0	1	0	0	0	4623	912	32	3	1277	3	DNAH8	6	38743659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98533	38743659	132371408	7367	17684											
DNAH8	1769	broad.mit.edu	37	chr6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccaccactactgacGtgacccatcaaaacacagga	6	17	1	2	rs201712851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	944					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2830-2832)Gtg>Atg		dynein, axonemal, heavy chain 8							80	66	71					6																	38783391		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38783391G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2830G>A	6.37:g.38783391G>A	ENSP00000352312:p.Val944Met					DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M|DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M	p.V944M							24	3084	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2830G>A		.	.	.	.	.	.	.	.	.	.	G	8.767	0.925106	0.18056	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.82;1.81;1.78	5.01	-9.35	0.00633	.	2.459610	0.02175	N	0.060021	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	10	0.39692	T	0.17	.	6.0353	0.19704	0.1949:0.1663:0.5118:0.1269	.	944	Q96JB1	DYH8_HUMAN	M	1149;1149;944;944	ENSP00000333363:V1149M;ENSP00000352312:V944M;ENSP00000402294:V944M	ENSP00000333363:V1149M	V	+	1	0	DNAH8	38891369	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.233000	0.00139	-2.059000	0.00894	-0.866000	0.03004	GTG		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		46	159	0	0	0	1	0	46	159					A	38783391	G	A	38783391	3	1	79	1	0	0	0	0	1	0	0	0	4623	1145	40	1	2916	1	DNAH8	6	38783391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39732	38783391	132331676	7368	17685											
DNAH8	1769	broad.mit.edu	37	chr6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggatcttttgaagaaGctattcctgcgaggaagctg	11	7	2	2	rs201917454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	963					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGAAGAAGCTATTCCTGC	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2887-2889)Gct>Act		dynein, axonemal, heavy chain 8		G	THR/ALA	0,4406		0,0,2203	36	38	37		3538	-6.8	0	6		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAH8	NM_001206927.1	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1180/4708	38790628	2,13004	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790628G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2887G>A	6.37:g.38790628G>A	ENSP00000352312:p.Ala963Thr					DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T	p.A963T							25	3141	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2887G>A		.	.	.	.	.	.	.	.	.	.	G	7.936	0.741757	0.15642	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.12	-6.83	0.01693	.	1.350950	0.04674	N	0.411146	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10377	T	0.69	.	12.1701	0.54152	0.3127:0.1087:0.5787:0.0	.	963	Q96JB1	DYH8_HUMAN	T	1168;1168;963;963	ENSP00000333363:A1168T;ENSP00000352312:A963T;ENSP00000402294:A963T	ENSP00000333363:A1168T	A	+	1	0	DNAH8	38898606	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-1.057000	0.03486	-1.304000	0.02329	-0.471000	0.05019	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		15	158	0	0	0	1	0	15	158					A	38790628	G	A	38790628	3	1	79	1	0	0	0	0	1	0	0	0	4623	971	34	2	2977	2	DNAH8	6	38790628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7237	38790628	132324439	7369	17686											
DNAH8	1769	broad.mit.edu	37	chr6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttagaaccctggatatgCtgggcgccaggaactaccag	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1954	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGGATATGCTGGGCGCCAG	0.318																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5860-5862)gCt>gTt		dynein, axonemal, heavy chain 8							60	61	61					6																	38834380		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38834380C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5861C>T	6.37:g.38834380C>T	ENSP00000352312:p.Ala1954Val					DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V	p.A1954V							44	6115	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5861C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.518254	0.96416	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14022	2.54;2.54;2.54	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07366	-1.0776	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1954	Q96JB1	DYH8_HUMAN	V	2159;2159;1954;1954	ENSP00000333363:A2159V;ENSP00000352312:A1954V;ENSP00000402294:A1954V	ENSP00000333363:A2159V	A	+	2	0	DNAH8	38942358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	122	0	0	0	1	0	30	122					T	38834380	C	T	38834380	3	4	79	1	0	0	0	0	1	0	0	0	4623	797	28	2	6027	2	DNAH8	6	38834380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43752	38834380	132280687	7370	17687											
DNAH8	1769	broad.mit.edu	37	chr6	38840488	38840488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtttggcagactggaCactgctaccaatgactggac	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2172	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGACTGGACACTGCTACCA	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6514-6516)gaC>gaT		dynein, axonemal, heavy chain 8							96	93	94					6																	38840488		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38840488C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6516C>T	6.37:g.38840488C>T						DNAH8_ENST00000449981.2_Silent_p.D2389D|DNAH8_ENST00000441566.1_Silent_p.D2136D	p.D2172D							48	6770	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6516C>T																																																																																					0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		57	289	0	0	0	1	0	57	289					T	38840488	C	T	38840488	2	4	79	1	0	0	0	0	0	0	0	1	4623	477	17	2		2	DNAH8	6	38840488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6108	38840488	132274579	7371	17688											
DNAH8	1769	broad.mit.edu	37	chr6	38890961	38890961	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcaaagctcagattaataGgtgggaatctgggtcttctt	10	6	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3380					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e70+1		dynein, axonemal, heavy chain 8							47	49	48					6																	38890961		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38890961G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10139+1G>T	6.37:g.38890961G>T						DNAH8_ENST00000449981.2_Splice_Site_p.R3597_splice|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344_splice|RP1-207H1.3_ENST00000418399.1_RNA	p.R3380_splice							70	10393	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.10139_splice		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991528	0.74703	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.204756	0.45361	D	0.000374	D	0.87346	0.6154	H	0.94886	3.595	0.58432	D	0.999999	D	0.55172	0.97	P	0.59825	0.864	D	0.89862	0.4017	10	0.59425	D	0.04	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	3380	Q96JB1	DYH8_HUMAN	I	3585;3585;3380;3344	ENSP00000333363:R3585I;ENSP00000352312:R3380I;ENSP00000402294:R3344I	ENSP00000333363:R3585I	R	+	2	0	DNAH8	38998939	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	6.015000	0.70791	2.644000	0.89710	0.655000	0.94253	AGA		0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Missense_Mutation	42	209	1	0	2.6416e-12	1	2.83477e-12	42	209					T	38890961	G	T	38890961	5	4	79	1	0	0	0	0	0	0	1	0	4623	1014	35	3	10409	3	DNAH8	6	38890961	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50473	38890961	132224106	7372	17689											
GLP1R	2740	broad.mit.edu	37	chr6	39034062	39034062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctggttatcgcctctgcGatcctcctcggcttcaggta	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	164					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCGCCTCTGCGATCCTCCTCG	0.587																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(490-492)gcG>gcA		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						148	112	124					6																	39034062		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39034062G>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.492G>A	6.37:g.39034062G>A							p.A164A	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			5	535	+			164					Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.492G>A	CCDS4839.1																																																																																				0.587	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			27	141	0	0	0	1	0	27	141					A	39034062	G	A	39034062	2	1	79	1	0	0	0	0	0	0	0	1	6481	1045	37	1		1	GLP1R	6	39034062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143101	39034062	132081005	7373	17690											
C6orf64	55776	broad.mit.edu	37	chr6	39073241	39073241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtctcaactgtaactcGcgctccaactgctctgcagt	10	13	2	0	rs141609699	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39073241G>A	ENST00000229903.4	-	2	618	c.519C>T	c.(517-519)cgC>cgT	p.R173R	SAYSD1_ENST00000373249.1_Silent_p.R106R	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	173						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											ACTGTAACTCGCGCTCCAACT	0.547													G|||	4	0.000798722	0.003	0.0	5008	,	,		19512	0.0		0.0	False		,,,				2504	0.0					ENST00000229903.4																			0											c.(517-519)cgC>cgT		SAYSVFN motif domain containing 1		G		3,4403	6.2+/-15.9	0,3,2200	105	108	107		519	0.9	1	6	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	C6orf64	NM_018322.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		173/184	39073241	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55776					integral to membrane		g.chr6:39073241G>A	BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 64"	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.519C>T	6.37:g.39073241G>A						SAYSD1_ENST00000373249.1_Silent_p.R106R	p.R173R	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN			2	618	-			173					Q9H0D8	Silent	SNP	ENST00000229903.4	37	c.519C>T	CCDS4840.1																																																																																				0.547	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		105	509	0	0	0	1	0	105	509					A	39073241	G	A	39073241	2	1	79	1	0	0	0	0	0	0	0	1	2376	1074	38	1		1	C6orf64	6	39073241	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39179	39073241	132041826	7374	17691											
KCNK5	8645	broad.mit.edu	37	chr6	39159266	39159266	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgatgaggtcgttgtaGgtctcttccttcttggaaag	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39159266G>T	ENST00000359534.3	-	5	1238	c.900C>A	c.(898-900)acC>acA	p.T300T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	300					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGTCGTTGTAGGTCTCTTCCT	0.617																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(898-900)acC>acA		potassium channel, subfamily K, member 5							132	135	134					6																	39159266		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159266G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.900C>A	6.37:g.39159266G>T							p.T300T	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1238	-			300					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.900C>A	CCDS4841.1																																																																																				0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		15	1039	1	0	6.31663e-08	1	6.57865e-08	15	1039					T	39159266	G	T	39159266	2	4	79	1	0	0	0	0	0	0	0	1	8099	987	35	3		3	KCNK5	6	39159266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86025	39159266	131955801	7375	17692											
KIF6	221458	broad.mit.edu	37	chr6	39328261	39328261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagcagctgcaagtgctcGatctccaccttcagggcttt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000229913.5_Silent_p.I115I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	664					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAGTGCTCGATCTCCACCT	0.542																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1990-1992)atC>atT		kinesin family member 6							111	98	102					6																	39328261		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39328261G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1992C>T	6.37:g.39328261G>A						KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I	p.I664I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			18	2086	-			664					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1992C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319264	0.23994	.	.	ENSG00000164627	ENST00000458470	.	.	.	4.47	-2.17	0.07059	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	4.6477	0.12580	0.3828:0.0:0.3915:0.2257	.	.	.	.	L	556	.	.	S	-	2	0	KIF6	39436239	0.245000	0.23899	0.965000	0.40720	0.997000	0.91878	-0.733000	0.04898	-0.816000	0.04340	0.462000	0.41574	TCG		0.542	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		95	304	0	0	0	1	0	95	304					A	39328261	G	A	39328261	2	1	79	1	0	0	0	0	0	0	0	1	8338	1048	37	1		1	KIF6	6	39328261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168995	39328261	131786806	7376	17693											
KIF6	221458	broad.mit.edu	37	chr6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacttgctgtatatgccGctgggtgatttcttccttca	10	10	2	1	rs139112928	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R613W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		17500	0.0		0.001	False		,,,				2504	0.001					ENST00000287152.7																			2	Substitution - Missense(2)	p.R613W(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1837-1839)Cgg>Tgg		kinesin family member 6		G	TRP/ARG	0,4406		0,0,2203	121	114	116		1837	0.4	1	6	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIF6	NM_145027.4	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	613/815	39353422	3,13003	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39353422G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1837C>T	6.37:g.39353422G>A	ENSP00000287152:p.Arg613Trp					KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W	p.R613W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			16	1931	-			613					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1837C>T	CCDS4844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	KIF6	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG		0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		50	257	0	0	0	1	0	50	257					A	39353422	G	A	39353422	3	1	79	1	0	0	0	0	1	0	0	0	8338	1086	38	1	639	1	KIF6	6	39353422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25161	39353422	131761645	7377	17694											
DAAM2	23500	broad.mit.edu	37	chr6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccctgaattttaggagCgtgtccctggcaccgtatgg	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000398904.2	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	617	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTAGGAGCGTGTCCCTGG	0.493																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1849-1851)Cgt>Tgt		dishevelled associated activator of morphogenesis 2							87	85	86					6																	39851741		1960	4155	6115	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39851741C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1849C>T	6.37:g.39851741C>T	ENSP00000381876:p.Arg617Cys					DAAM2_ENST00000398904.2_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C	p.R617C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			15	2031	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		617		R -> H (in dbSNP:rs34699846).	FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1849C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699144	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.372678	0.29752	N	0.011281	T	0.18593	0.0446	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.94;0.953	T	0.01725	-1.1287	10	0.87932	D	0	.	7.0974	0.25317	0.2507:0.6654:0.0:0.084	.	617;617	G5EA45;Q86T65	.;DAAM2_HUMAN	C	617	ENSP00000274867:R617C;ENSP00000381876:R617C;ENSP00000437808:R617C	ENSP00000274867:R617C	R	+	1	0	DAAM2	39959719	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.359000	0.34113	1.513000	0.48852	0.561000	0.74099	CGT		0.493	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			15	75	0	0	0	1	0	15	75					T	39851741	C	T	39851741	3	4	79	1	0	0	0	0	1	0	0	0	4227	768	27	1	1903	1	DAAM2	6	39851741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498319	39851741	131263326	7378	17695											
DAAM2	23500	broad.mit.edu	37	chr6	39855321	39855321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggtcaaagagctgtcGgtcattgatggccggagggc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2011-2013)tcG>tcA		dishevelled associated activator of morphogenesis 2							70	75	73					6																	39855321		1950	4145	6095	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39855321G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2013G>A	6.37:g.39855321G>A						DAAM2_ENST00000398904.2_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S	p.S671S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			16	2195	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		671			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2013G>A	CCDS56426.1																																																																																				0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			21	90	0	0	0	1	0	21	90					A	39855321	G	A	39855321	2	1	79	1	0	0	0	0	0	0	0	1	4227	1103	39	1		1	DAAM2	6	39855321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	39855321	131259746	7379	17696											
DAAM2	23500	broad.mit.edu	37	chr6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagatcgctgacaccaagtCcagcatcgacaggtgaggac	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000398904.2	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	833	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACACCAAGTCCAGCATCGAC	0.592																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2497-2499)tCc>tAc		dishevelled associated activator of morphogenesis 2							41	46	44					6																	39864744		2061	4195	6256	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864744C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2498C>A	6.37:g.39864744C>A	ENSP00000381876:p.Ser833Tyr					DAAM2_ENST00000398904.2_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000430595.1_RNA	p.S833Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2680	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		833			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2498C>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692462	0.88735	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.69040	-0.37;-0.37;-0.37	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.141332	0.49305	D	0.000143	D	0.84857	0.5565	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89137	0.3514	10	0.87932	D	0	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	833;833	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	833	ENSP00000274867:S833Y;ENSP00000381876:S833Y;ENSP00000437808:S833Y	ENSP00000274867:S833Y	S	+	2	0	DAAM2	39972722	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.645000	0.83430	2.433000	0.82419	0.561000	0.74099	TCC		0.592	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			40	172	1	0	7.63091e-17	1	8.40161e-17	40	172					A	39864744	C	A	39864744	3	1	79	1	0	0	0	0	1	0	0	0	4227	855	30	3	2572	3	DAAM2	6	39864744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9423	39864744	131250323	7380	17697											
DAAM2	23500	broad.mit.edu	37	chr6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgacagttcgccaaggCcttgatgcacttcggggagc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000398904.2	+	24	3004	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	941	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCCAAGGCCTTGATGCAC	0.562																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2818-2820)gCc>gTc		dishevelled associated activator of morphogenesis 2							164	167	166					6																	39869088		2073	4210	6283	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869088C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2822C>T	6.37:g.39869088C>T	ENSP00000381876:p.Ala941Val					DAAM2_ENST00000398904.2_Missense_Mutation_p.A941V|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V	p.A940V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			24	3001	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		941			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2819C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815744	0.50527	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.16743	2.32;2.32;2.32	5.44	4.56	0.56223	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.130091	0.50627	D	0.000110	T	0.05364	0.0142	N	0.25286	0.73	0.80722	D	1	P;P	0.40731	0.681;0.728	B;B	0.37692	0.166;0.256	T	0.33163	-0.9879	10	0.18710	T	0.47	.	15.9472	0.79803	0.0:0.8646:0.1354:0.0	.	940;941	G5EA45;Q86T65	.;DAAM2_HUMAN	V	941;941;940	ENSP00000274867:A941V;ENSP00000381876:A941V;ENSP00000437808:A940V	ENSP00000274867:A941V	A	+	2	0	DAAM2	39977066	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.017000	0.70805	1.268000	0.44264	0.655000	0.94253	GCC		0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			66	792	0	0	0	1	0	66	792					T	39869088	C	T	39869088	3	4	79	1	0	0	0	0	1	0	0	0	4227	739	26	2	2909	2	DAAM2	6	39869088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4344	39869088	131245979	7381	17698											
MOCS1	4337	broad.mit.edu	37	chr6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacagcagccccaatgattCtcagcagctcctgctcagag	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000340692.5	-	9	1061	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000373186.4_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1057-1059)aGa>aTa		molybdenum cofactor synthesis 1							114	102	106					6																	39877623		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877623C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1058G>T	6.37:g.39877623C>A	ENSP00000344794:p.Arg353Ile					MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000340692.5_Missense_Mutation_p.R353I	p.R353I	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			8	1195	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		353			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1058G>T		.	.	.	.	.	.	.	.	.	.	C	9.397	1.076926	0.20227	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	4.98	0.952	0.19584	Molybdenum cofactor synthesis C-terminal (1);	0.618843	0.16706	N	0.202889	T	0.77558	0.4148	M	0.79011	2.435	0.25476	N	0.987787	B;B;P;B;B	0.34909	0.419;0.087;0.475;0.419;0.178	B;B;B;B;B	0.36335	0.142;0.098;0.222;0.142;0.142	T	0.68891	-0.5289	9	.	.	.	1.1866	4.5072	0.11894	0.0:0.3477:0.2942:0.3581	.	353;353;353;353;353	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	I	353;353;324;353;266;353;353;324	ENSP00000362282:R353I;ENSP00000309843:R353I;ENSP00000362270:R324I;ENSP00000362284:R353I;ENSP00000362291:R266I;ENSP00000344794:R353I;ENSP00000416478:R353I;ENSP00000410809:R324I	.	R	-	2	0	MOCS1	39985601	0.051000	0.20477	0.016000	0.15963	0.442000	0.32017	0.454000	0.21827	-0.129000	0.11620	0.557000	0.71058	AGA		0.602	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		130	516	1	0	2.10578e-59	1	2.64425e-59	130	516					A	39877623	C	A	39877623	3	1	79	1	0	0	0	0	1	0	0	0	9731	913	32	3	107	3	MOCS1	6	39877623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8535	39877623	131237444	7382	17699											
LRFN2	57497	broad.mit.edu	37	chr6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagtgggttacccccAaaactaaaggacaagggtgg	13	8	0	1	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	239						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(715-717)ttT>ttA		leucine rich repeat and fibronectin type III domain containing 2							32	37	35					6																	40400136		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400136A>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.717T>A	6.37:g.40400136A>T	ENSP00000345985:p.Phe239Leu						p.F239L	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1259	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		239					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.717T>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296729	0.40594	.	.	ENSG00000156564	ENST00000338305	T	0.01240	5.12	5.42	-6.7	0.01766	.	0.095815	0.64402	D	0.000001	T	0.00328	0.0010	N	0.10707	0.03	0.49915	D	0.999831	B	0.24317	0.101	B	0.27715	0.082	T	0.38887	-0.9640	10	0.14656	T	0.56	.	14.7045	0.69179	0.4575:0.0:0.5424:0.0	.	239	Q9ULH4	LRFN2_HUMAN	L	239	ENSP00000345985:F239L	ENSP00000345985:F239L	F	-	3	2	LRFN2	40508114	0.069000	0.21087	0.885000	0.34714	0.784000	0.44337	-0.274000	0.08537	-1.326000	0.02266	-0.371000	0.07208	TTT		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		58	234	0	0	0	1	0	58	234					T	40400136	A	T	40400136	3	4	79	1	0	0	0	0	1	0	0	0	8976	127	5	5	1660	5	LRFN2	6	40400136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	522513	40400136	130714931	7383	17700											
UNC5CL	222643	broad.mit.edu	37	chr6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatcccgggcgcccccgcgCtcggggcctgggctgccgcc	15	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000373164.1	-	8	1566	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCCCGCGCTCGGGGCCTG	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1504-1506)gaG>gaT		unc-5 homolog C (C. elegans)-like							12	13	13					6																	40996163		2176	4255	6431	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996163C>A	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1506G>T	6.37:g.40996163C>A	ENSP00000362258:p.Glu502Asp		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000373164.1_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR	p.E502D	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1594	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		502					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1506G>T	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.582907	0.13749	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14516	2.5;2.5	4.32	-1.68	0.08212	.	4.313200	0.00744	N	0.001035	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46456	-0.9190	10	0.13853	T	0.58	0.6004	16.5715	0.84613	0.0:0.7392:0.2608:0.0	.	502	Q8IV45	UN5CL_HUMAN	D	502	ENSP00000244565:E502D;ENSP00000362258:E502D	ENSP00000244565:E502D	E	-	3	2	UNC5CL	41104141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-0.351000	0.08249	-0.344000	0.07964	GAG		0.687	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		29	104	1	0	1.17739e-12	1	1.26592e-12	29	104					A	40996163	C	A	40996163	3	1	79	1	0	0	0	0	1	0	0	0	17048	796	28	3	54	3	UNC5CL	6	40996163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596027	40996163	130118904	7384	17701											
UNC5CL	222643	broad.mit.edu	37	chr6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccatatacttggtctccAagccctgagtcaacacaggg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000373164.1	-	6	1184	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	375	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGTCTCCAAGCCCTGAGT	0.552																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1123-1125)tTg>tCg		unc-5 homolog C (C. elegans)-like							67	66	67					6																	40998490		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40998490A>G	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1124T>C	6.37:g.40998490A>G	ENSP00000362258:p.Leu375Ser					UNC5CL_ENST00000373164.1_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR	p.L375S	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			7	1212	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		375			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1124T>C	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192500	0.21954	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16897	2.31;2.31	4.79	3.61	0.41365	.	0.393509	0.18792	N	0.131024	T	0.03263	0.0095	N	0.24115	0.695	0.32059	N	0.595991	B	0.30193	0.272	B	0.23275	0.045	T	0.42258	-0.9462	10	0.24483	T	0.36	-7.3284	8.4273	0.32735	0.8019:0.1981:0.0:0.0	.	375	Q8IV45	UN5CL_HUMAN	S	375	ENSP00000244565:L375S;ENSP00000362258:L375S	ENSP00000244565:L375S	L	-	2	0	UNC5CL	41106468	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.410000	0.59774	0.838000	0.34948	-0.316000	0.08728	TTG		0.552	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		38	181	0	0	0	1	0	38	181					G	40998490	A	G	40998490	3	3	79	1	0	0	0	0	1	0	0	0	17048	131	5	4	444	4	UNC5CL	6	40998490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	40998490	130116577	7385	17702											
UNC5CL	222643	broad.mit.edu	37	chr6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggggtaggctgggacaCtggttcctcttgaccattca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000373164.1	-	1	217	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGGACACTGGTTCCTCT	0.587																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(157-159)Gtg>Atg		unc-5 homolog C (C. elegans)-like							116	105	109					6																	41002657		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002657C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.157G>A	6.37:g.41002657C>T	ENSP00000362258:p.Val53Met					UNC5CL_ENST00000373164.1_Missense_Mutation_p.V53M	p.V53M	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			2	245	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		53					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.157G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199508	0.22121	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.20598	2.06;2.06	4.49	4.49	0.54785	.	0.836023	0.10201	N	0.703402	T	0.07279	0.0184	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.31751	0.135	T	0.12656	-1.0539	10	0.54805	T	0.06	-3.386	12.5412	0.56172	0.0:1.0:0.0:0.0	.	53	Q8IV45	UN5CL_HUMAN	M	53	ENSP00000244565:V53M;ENSP00000362258:V53M	ENSP00000244565:V53M	V	-	1	0	UNC5CL	41110635	0.009000	0.17119	0.849000	0.33467	0.012000	0.07955	2.263000	0.43293	2.342000	0.79632	0.563000	0.77884	GTG		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		97	435	0	0	0	1	0	97	435					T	41002657	C	T	41002657	3	4	79	1	0	0	0	0	1	0	0	0	17048	565	20	2	1431	2	UNC5CL	6	41002657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4167	41002657	130112410	7386	17703											
C6orf130	221443	broad.mit.edu	37	chr6	41036622	41036622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccattcttcagacaatgaGacttcattgcctctaaactc	4	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41036622G>A	ENST00000479950.1	-	5	627	c.314C>T	c.(313-315)tCt>tTt	p.S105F	OARD1_ENST00000424266.2_Missense_Mutation_p.S105F|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S66F|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.S105F|OARD1_ENST00000468811.1_Missense_Mutation_p.S105F			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	105	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										CAGACAATGAGACTTCATTGC	0.398																																						ENST00000479950.1																			0											c.(313-315)tCt>tTt		O-acyl-ADP-ribose deacylase 1							114	112	112					6																	41036622		2203	4300	6503	SO:0001583	missense	221443							g.chr6:41036622G>A	AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"terminal ADP-ribose protein glycohydrolase 1"	614393	"chromosome 6 open reading frame 130"	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.314C>T	6.37:g.41036622G>A	ENSP00000420484:p.Ser105Phe					OARD1_ENST00000373154.2_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S66F|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.S105F|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.S105F|OARD1_ENST00000463088.1_Missense_Mutation_p.S105F	p.S105F							5	627	-								A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	ENST00000479950.1	37	c.314C>T	CCDS34445.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960470	0.53400	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	6.08	3.27	0.37495	Appr-1-p processing (2);	0.444150	0.26424	N	0.024442	T	0.11239	0.0274	L	0.56769	1.78	0.80722	D	1	P	0.36222	0.544	B	0.30646	0.118	T	0.03166	-1.1065	10	0.66056	D	0.02	0.0645	9.3006	0.37842	0.0723:0.2752:0.6525:0.0	.	105	Q9Y530	CF130_HUMAN	F	105;105;105;105;66;105	ENSP00000420484:S105F;ENSP00000420193:S105F;ENSP00000416829:S105F;ENSP00000420601:S105F;ENSP00000419175:S66F;ENSP00000420414:S105F	ENSP00000416829:S105F	S	-	2	0	C6orf130	41144600	0.911000	0.30947	0.998000	0.56505	0.998000	0.95712	1.600000	0.36762	0.424000	0.26061	0.655000	0.94253	TCT		0.398	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040494.2	NM_145063		27	148	0	0	0	1	0	27	148					A	41036622	G	A	41036622	3	1	79	1	0	0	0	0	1	0	0	0	2336	942	33	2	152	2	C6orf130	6	41036622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33965	41036622	130078445	7387	17704											
TREML2	79865	broad.mit.edu	37	chr6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagcactgcacagacagaGtctccccttcaaggagcctc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	36	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(106-108)aCt>aAt		triggering receptor expressed on myeloid cells-like 2							136	139	138					6																	41166116		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166116G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.107C>A	6.37:g.41166116G>T	ENSP00000418767:p.Thr36Asn						p.T36N	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	292	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		36			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.107C>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307291	0.40795	.	.	ENSG00000112195	ENST00000483722	T	0.64085	-0.08	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.68869	0.3048	L	0.60455	1.87	0.37215	D	0.904973	D	0.76494	0.999	D	0.79108	0.992	T	0.73030	-0.4111	10	0.62326	D	0.03	-15.7229	13.6225	0.62144	0.0:0.0:1.0:0.0	.	36	Q5T2D2	TRML2_HUMAN	N	36	ENSP00000418767:T36N	ENSP00000418767:T36N	T	-	2	0	TREML2	41274094	0.999000	0.42202	0.984000	0.44739	0.036000	0.12997	4.280000	0.58959	2.344000	0.79699	0.563000	0.77884	ACT		0.502	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		190	832	1	0	1.05211e-58	1	1.32009e-58	190	832					T	41166116	G	T	41166116	3	4	79	1	0	0	0	0	1	0	0	0	16526	1029	36	3	874	3	TREML2	6	41166116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129494	41166116	129948951	7388	17705											
TREML4	285852	broad.mit.edu	37	chr6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgctgtgcctgaagaaCttcacaaacacccaggacag	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	28	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572																																						ENST00000341495.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(82-84)Ctt>Ttt		triggering receptor expressed on myeloid cells-like 4							84	84	84					6																	41196470		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41196470C>T	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.82C>T	6.37:g.41196470C>T	ENSP00000342570:p.Leu28Phe					TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN			2	186	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		28			Ig-like V-type.		B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.82C>T	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201274	0.38905	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68903	-0.36;-0.36	3.78	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64316	0.2587	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	9	0.72032	D	0.01	-8.9772	5.2004	0.15260	0.0:0.6706:0.2107:0.1187	.	28	Q6UXN2	TRML4_HUMAN	F	28	ENSP00000342570:L28F;ENSP00000418078:L28F	ENSP00000342570:L28F	L	+	1	0	TREML4	41304448	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.330000	0.19715	0.354000	0.24105	0.591000	0.81541	CTT		0.572	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			88	388	0	0	0	1	0	88	388					T	41196470	C	T	41196470	3	4	79	1	0	0	0	0	1	0	0	0	16527	565	20	2	88	2	TREML4	6	41196470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30354	41196470	129918597	7389	17706											
MDFI	4188	broad.mit.edu	37	chr6	41621208	41621208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgagtgtgccgactgCgacctgccctgcgacctgga	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41621208C>T	ENST00000373050.4	+	4	640	c.453C>T	c.(451-453)tgC>tgT	p.C151C				Q99750	MDFI_HUMAN	MyoD family inhibitor	212					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GTGCCGACTGCGACCTGCCCT	0.652																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(451-453)tgC>tgT		MyoD family inhibitor							113	97	102					6																	41621208		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621208C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.453C>T	6.37:g.41621208C>T							p.C151C			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	640	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		212						Silent	SNP	ENST00000373050.4	37	c.453C>T																																																																																					0.652	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		12	752	0	0	0	1	0	12	752					T	41621208	C	T	41621208	2	4	79	1	0	0	0	0	0	0	0	1	9445	776	27	1		1	MDFI	6	41621208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424738	41621208	129493859	7390	17707											
PGC	5225	broad.mit.edu	37	chr6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagcactcactgcaggCctggctctggcagtagacag	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	108					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612																																						ENST00000373025.3																			1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(322-324)Gcc>Acc		progastricsin (pepsinogen C)							60	62	61					6																	41712141		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712141C>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.322G>A	6.37:g.41712141C>T	ENSP00000362116:p.Ala108Thr					PGC_ENST00000425343.2_Missense_Mutation_p.A108T	p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	384	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		108					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.322G>A	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821681	0.50633	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.60672	0.17;0.17	4.65	3.79	0.43588	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063203	0.64402	N	0.000010	T	0.72391	0.3454	M	0.88377	2.95	0.44175	D	0.996986	D	0.89917	1.0	D	0.79784	0.993	T	0.79014	-0.1976	10	0.87932	D	0	.	12.4447	0.55645	0.0:0.9174:0.0:0.0826	.	108	P20142	PEPC_HUMAN	T	108	ENSP00000362116:A108T;ENSP00000405094:A108T	ENSP00000362116:A108T	A	-	1	0	PGC	41820119	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.216000	0.58540	1.203000	0.43233	-0.225000	0.12378	GCC		0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			83	444	0	0	0	1	0	83	444					T	41712141	C	T	41712141	3	4	79	1	0	0	0	0	1	0	0	0	11827	739	26	2	1181	2	PGC	6	41712141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90933	41712141	129402926	7391	17708											
FRS3	10817	broad.mit.edu	37	chr6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgggcttctgcagtGgggtctcgtcctcctcacca	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGCAGTGGGGTCTCGTC	0.667																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1105-1107)cCa>cTa		fibroblast growth factor receptor substrate 3							45	46	46					6																	41738730		2202	4299	6501	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738730G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1106C>T	6.37:g.41738730G>A	ENSP00000362109:p.Pro369Leu					FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1357	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		369					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1106C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099895	0.56183	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.099722	0.64402	D	0.000001	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.18555	-1.0333	10	0.66056	D	0.02	-21.6613	19.5656	0.95391	0.0:0.0:1.0:0.0	.	369	O43559	FRS3_HUMAN	L	369	ENSP00000362109:P369L;ENSP00000259748:P369L	ENSP00000259748:P369L	P	-	2	0	FRS3	41846708	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	3.630000	0.54273	2.728000	0.93425	0.655000	0.94253	CCA		0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		95	465	0	0	0	1	0	95	465					A	41738730	G	A	41738730	3	1	79	1	0	0	0	0	1	0	0	0	6089	1348	47	2	376	2	FRS3	6	41738730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26589	41738730	129376337	7392	17709											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcgggggacgttatgCcctgcctgggggaagcccct	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000394260.1	+	4	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	189	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGTTATGCCCTGCCTGGG	0.672																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(685-687)gCc>gTc		prickle homolog 4 (Drosophila)							32	34	33					6																	41753969		2202	4300	6502	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753969C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.566C>T	6.37:g.41753969C>T	ENSP00000377803:p.Ala189Val					PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V	p.A229V			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	1275	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		189					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.686C>T		.	.	.	.	.	.	.	.	.	.	C	12.06	1.825632	0.32237	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.81	4.81	0.61882	.	0.138533	0.33477	N	0.004876	T	0.35624	0.0938	N	0.00109	-2.105	0.37209	D	0.904731	B	0.19200	0.034	B	0.26416	0.069	T	0.50742	-0.8792	10	0.11485	T	0.65	-19.1463	7.1315	0.25504	0.0:0.8176:0.0:0.1824	.	229	Q2TBC4-3	.	V	229;229;229;189;189	ENSP00000404911:A229V;ENSP00000352128:A229V;ENSP00000377806:A229V;ENSP00000377802:A189V;ENSP00000377803:A189V	ENSP00000335185:A229V	A	+	2	0	PRICKLE4	41861947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	2.504000	0.84457	0.561000	0.74099	GCC		0.672	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		56	273	0	0	0	1	0	56	273					T	41753969	C	T	41753969	3	4	79	1	0	0	0	0	1	0	0	0	12536	739	26	2	704	2	PRICKLE4	6	41753969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15239	41753969	129361098	7393	17710											
USP49	25862	broad.mit.edu	37	chr6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctcctccttcttgcGctccagggcctcctcctgcc	8	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	180					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(538-540)Cgc>Tgc		ubiquitin specific peptidase 49							8	10	9					6																	41774184		2110	4116	6226	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774184G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.538C>T	6.37:g.41774184G>A	ENSP00000377797:p.Arg180Cys					USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C	p.R180C			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	867	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		180					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.538C>T		.	.	.	.	.	.	.	.	.	.	G	10.37	1.330258	0.24167	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07567	3.67;3.18;3.67;3.44;3.44	4.29	2.28	0.28536	.	0.238802	0.35615	N	0.003088	T	0.05502	0.0145	L	0.29908	0.895	0.43435	D	0.995605	D	0.57257	0.979	P	0.52710	0.707	T	0.29852	-0.9998	10	0.66056	D	0.02	-12.386	10.509	0.44851	0.0:0.0:0.4072:0.5928	.	180	Q70CQ1-2	.	C	180	ENSP00000377797:R180C;ENSP00000362101:R180C;ENSP00000362100:R180C;ENSP00000362097:R180C;ENSP00000297229:R180C	ENSP00000297229:R180C	R	-	1	0	USP49	41882162	0.988000	0.35896	0.999000	0.59377	0.016000	0.09150	2.116000	0.41930	0.995000	0.38917	-0.169000	0.13324	CGC		0.726	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		24	107	0	0	0	1	0	24	107					A	41774184	G	A	41774184	3	1	79	1	0	0	0	0	1	0	0	0	17134	1087	38	1	1400	1	USP49	6	41774184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20215	41774184	129340883	7394	17711											
USP49	25862	broad.mit.edu	37	chr6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtcctggccagcaggCgctgacgccggtaccacaga	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(445-447)cGc>cAc		ubiquitin specific peptidase 49							11	13	12					6																	41774276		2185	4272	6457	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774276C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.446G>A	6.37:g.41774276C>T	ENSP00000377797:p.Arg149His					USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H	p.R149H			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	775	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		149					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.446G>A		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292763	0.23564	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06687	3.76;3.27;3.76;3.54;3.54	4.46	4.46	0.54185	.	0.404141	0.27896	N	0.017420	T	0.01523	0.0049	N	0.08118	0	0.33826	D	0.629658	B	0.22983	0.078	B	0.23275	0.045	T	0.47598	-0.9105	10	0.14656	T	0.56	-16.6087	11.6726	0.51411	0.0:0.671:0.329:0.0	.	149	Q70CQ1-2	.	H	149	ENSP00000377797:R149H;ENSP00000362101:R149H;ENSP00000362100:R149H;ENSP00000362097:R149H;ENSP00000297229:R149H	ENSP00000297229:R149H	R	-	2	0	USP49	41882254	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.582000	0.46085	2.288000	0.76882	0.655000	0.94253	CGC		0.701	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		25	138	0	0	0	1	0	25	138					T	41774276	C	T	41774276	3	4	79	1	0	0	0	0	1	0	0	0	17134	768	27	1	1492	1	USP49	6	41774276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	41774276	129340791	7395	17712											
MED20	9477	broad.mit.edu	37	chr6	41874828	41874828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactaacgaatcccagccacCggcacctgctgctgcttgcg	9	17	0	0	rs200052512		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	207				Missing (in Ref. 1; AAD16169). {ECO:0000305}.	gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18113	0.001		0.0	False		,,,				2504	0.0					ENST00000265350.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(619-621)ccG>ccA		mediator complex subunit 20							67	59	61					6																	41874828		2203	4300	6503	SO:0001819	synonymous_variant	9477				regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding	g.chr6:41874828C>T	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.621G>A	6.37:g.41874828C>T						MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	p.P207P	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	701	-	Colorectal(47;0.121)		207	Missing (in Ref. 1; AAD16169).				B4DE08|O95821|Q5T8J4|Q9Y429	Silent	SNP	ENST00000265350.4	37	c.621G>A	CCDS4862.1																																																																																				0.572	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	NM_004275		54	273	0	0	0	1	0	54	273					T	41874828	C	T	41874828	2	4	79	1	0	0	0	0	0	0	0	1	9479	639	23	1		1	MED20	6	41874828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100552	41874828	129240239	7396	17713											
BYSL	705	broad.mit.edu	37	chr6	41895197	41895197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaatgacagcagcgggCcatcatgcagaggtggttgt	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	118					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(352-354)ggC>ggT		bystin-like							140	125	130					6																	41895197		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41895197C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.354C>T	6.37:g.41895197C>T							p.G118G	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	729	+	Colorectal(47;0.121)		118					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.354C>T	CCDS34450.1																																																																																				0.562	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			73	370	0	0	0	1	0	73	370					T	41895197	C	T	41895197	2	4	79	1	0	0	0	0	0	0	0	1	1580	726	26	2		2	BYSL	6	41895197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20369	41895197	129219870	7397	17714											
CCND3	896	broad.mit.edu	37	chr6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtagcgatccaggtagtTcatggccagggggaagactt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000372991.4	-	2	445	c.247A>C	c.(247-249)Aac>Cac	p.N83H	CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511642.1_Missense_Mutation_p.N2H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000415497.2_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	83	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637			T	IGH@	MM																																	ENST00000511642.1				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0				endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20						c.(4-6)Aac>Cac		cyclin D3							100	92	95					6																	41908275		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908275T>G		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.247A>C	6.37:g.41908275T>G	ENSP00000362082:p.Asn83His					CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000372991.4_Missense_Mutation_p.N83H|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000415497.2_Intron	p.N2H			P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	755	-	Colorectal(47;0.121)		83					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.4A>C	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.6|22.6	4.308671|4.308671	0.81247|0.81247	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771;ENST00000514588|ENST00000512426	T;T;T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|.	0.72526|.	0.3471|.	M|M	0.86573|0.86573	2.825|2.825	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.98;0.999;1.0|.	T|.	0.77338|.	-0.2625|.	10|.	0.87932|.	D|.	0|.	.|.	13.4041|13.4041	0.60900|0.60900	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2;83;33|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	H|C	83;2;33;2;2;2;2;33|17	ENSP00000362082:N83H;ENSP00000426212:N2H;ENSP00000362078:N33H;ENSP00000362079:N2H;ENSP00000425986:N2H;ENSP00000425830:N2H;ENSP00000425334:N2H;ENSP00000420991:N33H|.	ENSP00000362078:N33H|.	N|X	-|-	1|3	0|0	CCND3|CCND3	42016253|42016253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.010000|6.010000	0.70753|0.70753	1.839000|1.839000	0.53478|0.53478	0.459000|0.459000	0.35465|0.35465	AAC|TGA		0.637	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		87	410	0	0	0	1	0	87	410					G	41908275	T	G	41908275	3	3	79	1	0	0	0	0	1	0	0	0	2927	1783	62	4	647	4	CCND3	6	41908275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13078	41908275	129206792	7398	17715											
GUCA1A	2978	broad.mit.edu	37	chr6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaacggctgcattgaccgcGatgagctgctcaccatcatc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	110	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTGACCGCGATGAGCTGCT	0.617																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(328-330)Gat>Aat		guanylate cyclase activator 1A (retina)							105	98	100					6																	42146144		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146144G>A		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.328G>A	6.37:g.42146144G>A	ENSP00000377784:p.Asp110Asn					GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N	p.D110N			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1304	+	Colorectal(47;0.196)		110			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.328G>A	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	g	1.312	-0.601822	0.03744	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.57	3.7	0.42460	EF-hand-like domain (1);	0.422650	0.26840	N	0.022228	T	0.74650	0.3744	L	0.56124	1.755	0.09310	N	1	P	0.38048	0.616	B	0.30716	0.119	T	0.65747	-0.6093	9	.	.	.	.	12.8576	0.57894	0.0:0.1656:0.8344:0.0	.	110	P43080	GUC1A_HUMAN	N	110;106;110;110;110	ENSP00000437476:D110N;ENSP00000053469:D110N;ENSP00000377784:D110N;ENSP00000362049:D110N	.	D	+	1	0	GUCA1A	42254122	0.045000	0.20229	0.225000	0.23894	0.005000	0.04900	1.711000	0.37930	1.055000	0.40461	-0.121000	0.15023	GAT		0.617	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			128	574	0	0	0	1	0	128	574					A	42146144	G	A	42146144	3	1	79	1	0	0	0	0	1	0	0	0	6918	1058	37	1	334	1	GUCA1A	6	42146144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237869	42146144	128968923	7399	17716											
TRERF1	55809	broad.mit.edu	37	chr6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaagactgaatcttgAtcatccaagagaagatcggt	10	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000372922.4	-	18	4126	c.3564T>G	c.(3562-3564)gaT>gaG	p.D1188E	TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1188	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3622-3624)gaT>gaG		transcriptional regulating factor 1							121	105	110					6																	42196122		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196122A>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3564T>G	6.37:g.42196122A>C	ENSP00000362013:p.Asp1188Glu					TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000372922.4_Missense_Mutation_p.D1188E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E	p.D1208E			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4192	-	Colorectal(47;0.196)		1188					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3624T>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557120	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.75;2.67;2.68	5.77	-0.61	0.11604	.	0.194080	0.35525	N	0.003150	T	0.02767	0.0083	L	0.27053	0.805	0.35433	D	0.794248	B;B;B;B;P	0.41131	0.005;0.003;0.003;0.005;0.739	B;B;B;B;B	0.40782	0.01;0.004;0.004;0.01;0.34	T	0.44345	-0.9334	10	0.44086	T	0.13	-9.2392	2.0843	0.03642	0.377:0.1345:0.3575:0.131	.	1105;1208;1188;944;956	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	1208;1117;1188;1117;1105	ENSP00000439689:D1208E;ENSP00000362008:D1117E;ENSP00000362013:D1188E;ENSP00000339438:D1117E;ENSP00000346285:D1105E	ENSP00000339438:D1117E	D	-	3	2	TRERF1	42304100	0.996000	0.38824	0.982000	0.44146	0.946000	0.59487	0.316000	0.19469	-0.086000	0.12550	0.455000	0.32223	GAT		0.498	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		83	376	0	0	0	1	0	83	376					C	42196122	A	C	42196122	3	2	79	1	0	0	0	0	1	0	0	0	16528	330	12	4	42	4	TRERF1	6	42196122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49978	42196122	128918945	7400	17717											
TRERF1	55809	broad.mit.edu	37	chr6	42196272	42196272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccccggcgcccccacGggccccgtagtcctctcaat	10	20	1	0	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000541110.1_Silent_p.P1158P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602																																						ENST00000541110.1																			1	Substitution - coding silent(1)	p.P1138P(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3472-3474)ccC>ccT		transcriptional regulating factor 1		G		0,4406		0,0,2203	141	165	157		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196272G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	6.37:g.42196272G>A						TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P	p.P1158P			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4042	-	Colorectal(47;0.196)		1138			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.3474C>T	CCDS4867.1																																																																																				0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		57	1884	0	0	0	1	0	57	1884					A	42196272	G	A	42196272	2	1	79	1	0	0	0	0	0	0	0	1	16528	1103	39	1		1	TRERF1	6	42196272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	42196272	128918795	7401	17718											
TRERF1	55809	broad.mit.edu	37	chr6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctggcttgtctctgGcggagggggcggcaacggtg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000372922.4	-	8	2397	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1834-1836)gCc>gTc		transcriptional regulating factor 1							60	65	64					6																	42231107		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231107G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1835C>T	6.37:g.42231107G>A	ENSP00000362013:p.Ala612Val					TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	p.A612V			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2403	-	Colorectal(47;0.196)		612			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1835C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877247	0.51801	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10382	2.89;2.88	4.98	3.08	0.35506	.	0.491767	0.18777	N	0.131437	T	0.01627	0.0052	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.15870	0.014;0.014	T	0.40232	-0.9574	10	0.24483	T	0.36	-11.838	6.3266	0.21246	0.0999:0.1854:0.7147:0.0	.	612;612	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	612	ENSP00000439689:A612V;ENSP00000362013:A612V	ENSP00000362013:A612V	A	-	2	0	TRERF1	42339085	0.886000	0.30341	0.970000	0.41538	0.991000	0.79684	1.357000	0.34090	1.096000	0.41439	-0.254000	0.11334	GCC		0.657	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		97	461	0	0	0	1	0	97	461					A	42231107	G	A	42231107	3	1	79	1	0	0	0	0	1	0	0	0	16528	1203	42	2	1811	2	TRERF1	6	42231107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34835	42231107	128883960	7402	17719											
UBR2	23304	broad.mit.edu	37	chr6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaattggtaaagtctttaCctgaagatgtaagtacctac	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372899.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2401-2403)Cct>Tct		ubiquitin protein ligase E3 component n-recognin 2							101	98	99					6																	42613320		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42613320C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2401C>T	6.37:g.42613320C>T	ENSP00000361990:p.Pro801Ser					UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	p.P801S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		21	2659	+	Colorectal(47;0.196)		801					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2401C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49432	0.78;0.78;0.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D;P	0.89917	1.0;0.739	D;P	0.91635	0.999;0.574	T	0.53878	-0.8376	10	0.31617	T	0.26	-24.2107	19.9659	0.97266	0.0:1.0:0.0:0.0	.	801;801	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	801;801;305	ENSP00000361990:P801S;ENSP00000361992:P801S;ENSP00000361974:P305S	ENSP00000361974:P305S	P	+	1	0	UBR2	42721298	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.802000	0.96397	0.650000	0.86243	CCT		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		50	313	0	0	0	1	0	50	313					T	42613320	C	T	42613320	3	4	79	1	0	0	0	0	1	0	0	0	16956	507	18	2	2629	2	UBR2	6	42613320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382213	42613320	128501747	7403	17720											
UBR2	23304	broad.mit.edu	37	chr6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagaggattacagcaGcctcattaatcaagcatcca	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372899.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1609					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(4825-4827)aGc>aAc		ubiquitin protein ligase E3 component n-recognin 2							67	68	67					6																	42652582		2202	4300	6502	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42652582G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4826G>A	6.37:g.42652582G>A	ENSP00000361990:p.Ser1609Asn					UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	p.S1609N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		44	5084	+	Colorectal(47;0.196)		1609					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4826G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095316	0.36952	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.64	4.77	0.60923	.	0.413235	0.31188	N	0.008095	T	0.29716	0.0742	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.084	B;B	0.35688	0.208;0.039	T	0.11397	-1.0589	10	0.20519	T	0.43	-11.6774	14.2927	0.66289	0.0714:0.0:0.9286:0.0	.	1609;1609	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1609	ENSP00000361990:S1609N;ENSP00000361992:S1609N	ENSP00000361990:S1609N	S	+	2	0	UBR2	42760560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	1.374000	0.46228	0.643000	0.83706	AGC		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	176	0	0	0	1	0	31	176					A	42652582	G	A	42652582	3	1	79	1	0	0	0	0	1	0	0	0	16956	971	34	2	5146	2	UBR2	6	42652582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39262	42652582	128462485	7404	17721											
UBR2	23304	broad.mit.edu	37	chr6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgtgtgcggatctctgCtgtgctcccagagttactgc	12	12	1	1	rs377215716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372899.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1640					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(4918-4920)Ctg>Atg		ubiquitin protein ligase E3 component n-recognin 2							196	184	188					6																	42656018		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42656018C>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4918C>A	6.37:g.42656018C>A	ENSP00000361990:p.Leu1640Met					UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	p.L1640M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		45	5176	+	Colorectal(47;0.196)		1640					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4918C>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282912	0.80692	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.2185	14.5261	0.67890	0.0:0.93:0.0:0.07	.	228;1640;1640	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1640	ENSP00000361990:L1640M;ENSP00000361992:L1640M	ENSP00000361990:L1640M	L	+	1	2	UBR2	42763996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.885000	0.99019	0.655000	0.94253	CTG		0.537	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		43	897	1	0	5.20006e-24	1	5.93142e-24	43	897					A	42656018	C	A	42656018	3	1	79	1	0	0	0	0	1	0	0	0	16956	796	28	3	5242	3	UBR2	6	42656018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3436	42656018	128459049	7405	17722											
UBR2	23304	broad.mit.edu	37	chr6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttacatttatgcaaagagCgattcaagaagattcagaag	8	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372899.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1720					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5158-5160)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 2							104	101	102					6																	42658801		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42658801C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5158C>T	6.37:g.42658801C>T	ENSP00000361990:p.Arg1720*					UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	p.R1720*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		47	5416	+	Colorectal(47;0.196)		1720					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.5158C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	47	12.963440	0.99709	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2902	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000361990:R1720X	R	+	1	2	UBR2	42766779	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.985000	0.70556	2.879000	0.98667	0.650000	0.86243	CGA		0.438	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		70	391	0	0	0	1	0	70	391					T	42658801	C	T	42658801	4	4	79	1	0	0	0	0	0	1	0	0	16956	760	27	1	5490	1	UBR2	6	42658801	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2783	42658801	128456266	7406	17723											
PRPH2	5961	broad.mit.edu	37	chr6	42666183	42666183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctcgctctcagattcCtcggggttggacacaccatc	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	297					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(889-891)gaG>gaA		peripherin 2 (retinal degeneration, slow)							73	72	72					6																	42666183		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42666183C>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.891G>A	6.37:g.42666183C>T							p.E297E	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		3	1130	-	Colorectal(47;0.196)		297					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.891G>A	CCDS4871.1																																																																																				0.592	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		68	278	0	0	0	1	0	68	278					T	42666183	C	T	42666183	2	4	79	1	0	0	0	0	0	0	0	1	12624	680	24	2		2	PRPH2	6	42666183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7382	42666183	128448884	7407	17724											
TBCC	6903	broad.mit.edu	37	chr6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcggagctgttggcagGccactgccagcacgcagtca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000372876.1	-	1	792	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	257	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(769-771)gCc>gTc		tubulin folding cofactor C							74	66	69					6																	42713042		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713042G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.770C>T	6.37:g.42713042G>A	ENSP00000361967:p.Ala257Val					TBCC_ENST00000372876.1_Missense_Mutation_p.A257V	p.A257V			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	1333	-	Colorectal(47;0.196)		257			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.770C>T	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173846	0.94807	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87256	-2.23;-2.23	5.14	5.14	0.70334	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.121363	0.56097	D	0.000036	D	0.91513	0.7320	M	0.81942	2.565	0.58432	D	0.999994	P	0.52842	0.956	P	0.56916	0.809	D	0.91910	0.5539	10	0.59425	D	0.04	-10.8047	18.9802	0.92752	0.0:0.0:1.0:0.0	.	257	Q15814	TBCC_HUMAN	V	257	ENSP00000361967:A257V;ENSP00000244625:A257V	ENSP00000244625:A257V	A	-	2	0	TBCC	42821020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.550000	0.86006	0.467000	0.42956	GCC		0.612	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		33	317	0	0	0	1	0	33	317					A	42713042	G	A	42713042	3	1	79	1	0	0	0	0	1	0	0	0	15683	1203	42	2	274	2	TBCC	6	42713042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46859	42713042	128402025	7408	17725											
KIAA0240	23506	broad.mit.edu	37	chr6	42796339	42796339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcttgaagatgaactcGagtcttctcctcttcctgat	7	10	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42796339G>A	ENST00000314073.5	+	6	444	c.268G>A	c.(268-270)Gag>Aag	p.E90K	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E90K			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	90																	AGATGAACTCGAGTCTTCTCC	0.473																																						ENST00000314073.5																			0											c.(268-270)Gag>Aag		GLTSCR1-like							120	103	109					6																	42796339		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42796339G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.268G>A	6.37:g.42796339G>A	ENSP00000313933:p.Glu90Lys					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E90K	p.E90K							6	444	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.268G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905737	0.52333	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.46063	0.88;0.88	5.81	5.81	0.92471	.	0.174851	0.40469	N	0.001081	T	0.26159	0.0638	L	0.36672	1.1	0.51482	D	0.999926	P;D;D	0.60160	0.681;0.975;0.987	B;B;P	0.45343	0.232;0.381;0.477	T	0.02797	-1.1109	10	0.10636	T	0.68	-23.7639	20.4375	0.99097	0.0:0.0:1.0:0.0	.	90;90;90	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	K	90	ENSP00000313933:E90K;ENSP00000377723:E90K	ENSP00000313933:E90K	E	+	1	0	KIAA0240	42904317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.857000	0.92250	2.906000	0.99361	0.655000	0.94253	GAG		0.473	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		65	242	0	0	0	1	0	65	242					A	42796339	G	A	42796339	3	1	79	1	0	0	0	0	1	0	0	0	8194	1059	37	1	282	1	KIAA0240	6	42796339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83297	42796339	128318728	7409	17726											
PTCRA	171558	broad.mit.edu	37	chr6	42890844	42890844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcagcagatggtggtggtCtgcctggtccttgatgttgc	15	8	1	2	rs373111406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	46					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGGTGGTCTGCCTGGTCC	0.597																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(136-138)gtC>gtT		pre T-cell antigen receptor alpha		C		1,4405		0,1,2202	147	126	133		138	-1.8	1	6		133	0,8600		0,0,4300	no	coding-synonymous	PTCRA	NM_138296.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		46/282	42890844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	171558					integral to membrane	receptor activity	g.chr6:42890844C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.138C>T	6.37:g.42890844C>T						PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	p.V46V	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	219	+	Colorectal(47;0.196)		46					Q5TFZ7	Silent	SNP	ENST00000304672.1	37	c.138C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253776	0.22965	2.27E-4	0.0	ENSG00000171611	ENST00000418903	.	.	.	5.84	-1.76	0.08006	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	5	0.87932	D	0	-24.9793	0.5962	0.00736	0.2505:0.3307:0.1223:0.2965	.	.	.	.	F	57	.	ENSP00000407061:S57F	S	+	2	0	PTCRA	42998822	0.950000	0.32346	0.983000	0.44433	0.959000	0.62525	-0.313000	0.08103	-0.353000	0.08224	-0.145000	0.13849	TCT		0.597	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		99	419	0	0	0	1	0	99	419					T	42890844	C	T	42890844	2	4	79	1	0	0	0	0	0	0	0	1	12782	900	32	2		2	PTCRA	6	42890844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94505	42890844	128224223	7410	17727											
PEX6	5190	broad.mit.edu	37	chr6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgtccatcactcctccaGaatctccacttcgcccccgg	5	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	818					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CACTCCTCCAGAATCTCCACT	0.547																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2452-2454)tCt>tAt		peroxisomal biogenesis factor 6							174	191	185					6																	42933437		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933437G>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2453C>A	6.37:g.42933437G>T	ENSP00000303511:p.Ser818Tyr					PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	p.S818Y	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		13	2522	-			818					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2453C>A	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870906|4.870906	0.91587|0.91587	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000244546|ENST00000304611	D|D	0.95690|0.95272	-3.78|-3.66	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97498|0.97498	0.9181|0.9181	M|M	0.85859|0.85859	2.78|2.78	0.37998|0.37998	D|D	0.934132|0.934132	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98231|0.98231	1.0483|1.0483	7|10	0.44086|0.87932	T|D	0.13|0	-15.747|-15.747	19.5876|19.5876	0.95496|0.95496	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818	.|Q13608	.|PEX6_HUMAN	M|Y	736|818	ENSP00000244546:L736M|ENSP00000303511:S818Y	ENSP00000244546:L736M|ENSP00000303511:S818Y	L|S	-|-	1|2	2|0	PEX6|PEX6	43041415|43041415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.842000|9.842000	0.99487|0.99487	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.547	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		271	1359	1	0	3.06621e-78	1	3.91588e-78	271	1359					T	42933437	G	T	42933437	3	4	79	1	0	0	0	0	1	0	0	0	11792	942	33	3	509	3	PEX6	6	42933437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42593	42933437	128181630	7411	17728											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974254	42974254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcccagtctcagccaccGtcatccaacaagcgtcccag	7	18	2	0	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Silent_p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	53			P -> S (found in a patient with delayed psychomotor development, no speech and cataracts). {ECO:0000269|PubMed:23033978}.		carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ctcagccACCGTCATCCAACA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11068	0.0		0.0	False		,,,				2504	0.0				Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(157-159)ccG>ccA		protein phosphatase 2, regulatory subunit B', delta		G	,,	2,4404	4.2+/-10.8	0,2,2201	48	57	54		159,159,	-10.7	0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	PPP2R5D	NM_006245.2,NM_180976.1,NM_180977.1	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	53/603,53/571,	42974254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974254G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.159G>A	6.37:g.42974254G>A						PPP2R5D_ENST00000394110.3_Silent_p.P53P|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000461010.1_Intron	p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	338	+			53					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.159G>A	CCDS4878.1																																																																																				0.612	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		33	601	0	0	0	1	0	33	601					A	42974254	G	A	42974254	2	1	79	1	0	0	0	0	0	0	0	1	12442	1132	40	1		1	PPP2R5D	6	42974254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40817	42974254	128140813	7412	17729											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974287	42974287	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccagcaatagcacgccGccccccacgcagctcagcaa	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974287G>T	ENST00000485511.1	+	3	371	c.192G>T	c.(190-192)ccG>ccT	p.P64P	PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Silent_p.P64P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATAGCACGCCGCCCCCCACGC	0.622																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(190-192)ccG>ccT		protein phosphatase 2, regulatory subunit B', delta							58	67	64					6																	42974287		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974287G>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.192G>T	6.37:g.42974287G>T						PPP2R5D_ENST00000394110.3_Silent_p.P64P|PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000461010.1_Intron	p.P64P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	371	+			64					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.192G>T	CCDS4878.1																																																																																				0.622	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		13	705	1	0	5.01169e-05	1	5.1097e-05	13	705					T	42974287	G	T	42974287	2	4	79	1	0	0	0	0	0	0	0	1	12442	1074	38	3		3	PPP2R5D	6	42974287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	42974287	128140780	7413	17730											
KLHDC3	116138	broad.mit.edu	37	chr6	42986629	42986629	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaaaaagattgaaccGaaggggaaggggccatgtcc	14	8	0	2	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	283					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(847-849)ccG>ccA		kelch domain containing 3							60	72	68					6																	42986629		2202	4300	6502	SO:0001819	synonymous_variant	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986629G>A	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.849G>A	6.37:g.42986629G>A						KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	p.P283P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		8	1044	+			283					A8K2W9	Silent	SNP	ENST00000326974.4	37	c.849G>A	CCDS4880.1																																																																																				0.522	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		126	606	0	0	0	1	0	126	606					A	42986629	G	A	42986629	2	1	79	1	0	0	0	0	0	0	0	1	8387	1045	37	1		1	KLHDC3	6	42986629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12342	42986629	128128438	7414	17731											
CUL7	9820	broad.mit.edu	37	chr6	43005624	43005624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcgtcatggcgtctcagCgtgcccttgcccaggaggtg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000265348.3	-	26	4984	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.T1717T			Q14999	CUL7_HUMAN	cullin 7	1633					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(5149-5151)acG>acA		cullin 7							86	73	78					6																	43005624		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43005624C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4899G>A	6.37:g.43005624C>T						CUL7_ENST00000265348.3_Silent_p.T1633T	p.T1717T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		26	5237	-			1633					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.5151G>A	CCDS4881.1																																																																																				0.627	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		26	117	0	0	0	1	0	26	117					T	43005624	C	T	43005624	2	4	79	1	0	0	0	0	0	0	0	1	4071	755	27	1		1	CUL7	6	43005624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18995	43005624	128109443	7415	17732											
CUL7	9820	broad.mit.edu	37	chr6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccgtctcttctccaagttCtggccgtcttcaccctcagc	6	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000265348.3	-	25	4759	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H			Q14999	CUL7_HUMAN	cullin 7	1558					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4924-4926)caG>caT		cullin 7							130	110	117					6																	43006104		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006104C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4674G>T	6.37:g.43006104C>A	ENSP00000265348:p.Gln1558His					CUL7_ENST00000265348.3_Missense_Mutation_p.Q1558H	p.Q1642H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	5012	-			1558					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4926G>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191752	0.38707	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79141	-1.24;-1.24	5.29	1.42	0.22433	.	0.268668	0.34932	N	0.003570	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.25;0.291;0.162;0.0	B;B;B;B	0.30401	0.115;0.054;0.054;0.0	T	0.17501	-1.0367	10	0.54805	T	0.06	-10.2372	2.5613	0.04772	0.1212:0.4429:0.2375:0.1984	.	1642;1558;1642;1558	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1558;1642	ENSP00000265348:Q1558H;ENSP00000438788:Q1642H	ENSP00000265348:Q1558H	Q	-	3	2	CUL7	43114082	0.010000	0.17322	0.997000	0.53966	0.959000	0.62525	-0.314000	0.08092	0.592000	0.29728	0.655000	0.94253	CAG		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		62	272	1	0	1.03172e-35	1	1.23296e-35	62	272					A	43006104	C	A	43006104	3	1	79	1	0	0	0	0	1	0	0	0	4071	912	32	3	430	3	CUL7	6	43006104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	43006104	128108963	7416	17733											
CUL7	9820	broad.mit.edu	37	chr6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgaggtgggatgagccGcacaatgtcccatctcgacc	12	13	2	2	rs202082916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000265348.3	-	25	4709	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W			Q14999	CUL7_HUMAN	cullin 7	1542					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4876-4878)Cgg>Tgg		cullin 7		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	119	104	109		4876,4624	2.8	1	6		109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CUL7	NM_001168370.1,NM_014780.4	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1626/1783,1542/1699	43006154	2,13004	2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006154G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4624C>T	6.37:g.43006154G>A	ENSP00000265348:p.Arg1542Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.R1542W	p.R1626W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	4962	-			1542					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4876C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284334	0.23392	0.0	2.33E-4	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79554	-1.28;-1.28	5.18	2.85	0.33270	Cullin homology (1);	0.596147	0.19181	N	0.120665	T	0.23688	0.0573	N	0.01048	-1.04	0.30040	N	0.812671	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.14254	-1.0479	10	0.16420	T	0.52	-8.6898	3.0282	0.06098	0.5254:0.0:0.2822:0.1924	.	1626;1542;1626;1542	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1542;1626	ENSP00000265348:R1542W;ENSP00000438788:R1626W	ENSP00000265348:R1542W	R	-	1	2	CUL7	43114132	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.931000	0.28871	0.819000	0.34492	-0.302000	0.09304	CGG		0.542	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		70	283	0	0	0	1	0	70	283					A	43006154	G	A	43006154	3	1	79	1	0	0	0	0	1	0	0	0	4071	1086	38	1	480	1	CUL7	6	43006154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	43006154	128108913	7417	17734											
CUL7	9820	broad.mit.edu	37	chr6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcaggccatgcaggcatCcacggcctcgtgccagggga	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000265348.3	-	9	2210	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.D793N			Q14999	CUL7_HUMAN	cullin 7	709					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(2377-2379)Gat>Aat		cullin 7							43	43	43					6																	43015930		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43015930C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2125G>A	6.37:g.43015930C>T	ENSP00000265348:p.Asp709Asn					CUL7_ENST00000265348.3_Missense_Mutation_p.D709N	p.D793N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	2463	-			709					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.2377G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665082	0.67700	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65549	-0.16;-0.16	4.19	2.13	0.27403	Armadillo-like helical (1);	0.282093	0.38605	N	0.001636	T	0.33059	0.0850	L	0.36672	1.1	0.80722	D	1	B;B	0.31548	0.328;0.311	B;B	0.34242	0.178;0.15	T	0.21381	-1.0247	10	0.41790	T	0.15	-21.882	7.6878	0.28550	0.1593:0.7418:0.0:0.0989	.	793;709	F5H0L1;Q14999	.;CUL7_HUMAN	N	709;793	ENSP00000265348:D709N;ENSP00000438788:D793N	ENSP00000265348:D709N	D	-	1	0	CUL7	43123908	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	3.089000	0.50183	1.044000	0.40200	0.655000	0.94253	GAT		0.642	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		51	211	0	0	0	1	0	51	211					T	43015930	C	T	43015930	3	4	79	1	0	0	0	0	1	0	0	0	4071	855	30	2	3043	2	CUL7	6	43015930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9776	43015930	128099137	7418	17735											
CUL7	9820	broad.mit.edu	37	chr6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagggctgcggctgccGctgcagctgcagcaggagtg	18	11	0	0	rs199607543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000265348.3	-	8	2066	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R745W			Q14999	CUL7_HUMAN	cullin 7	661					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15628	0.0		0.0	False		,,,				2504	0.0					ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(2233-2235)Cgg>Tgg		cullin 7																																				SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43016152G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1981C>T	6.37:g.43016152G>A	ENSP00000265348:p.Arg661Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.R661W	p.R745W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		8	2319	-			661					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.2233C>T	CCDS4881.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	16.85	3.236478	0.58886	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.19	4.89	-0.649	0.11461	Armadillo-like helical (1);	3.182340	0.00481	N	0.000140	T	0.40347	0.1113	N	0.22421	0.69	0.39262	D	0.964222	D;D	0.61697	0.987;0.99	P;P	0.51701	0.555;0.677	T	0.18840	-1.0324	10	0.87932	D	0	-13.2376	4.3319	0.11067	0.079:0.1285:0.2622:0.5303	.	745;661	F5H0L1;Q14999	.;CUL7_HUMAN	W	661;745	ENSP00000265348:R661W;ENSP00000438788:R745W	ENSP00000265348:R661W	R	-	1	2	CUL7	43124130	0.001000	0.12720	0.739000	0.30968	0.872000	0.50106	-0.148000	0.10219	-0.379000	0.07906	0.655000	0.94253	CGG		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		220	1002	0	0	0	1	0	220	1002					A	43016152	G	A	43016152	3	1	79	1	0	0	0	0	1	0	0	0	4071	1086	38	1	3191	1	CUL7	6	43016152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	43016152	128098915	7419	17736											
CUL7	9820	broad.mit.edu	37	chr6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagttctgtcatgggcctCcagcgccaggcaggcagggc	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000265348.3	-	6	1477	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*			Q14999	CUL7_HUMAN	cullin 7	464					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1642-1644)tgG>tgA		cullin 7							108	99	102					6																	43017878		2203	4300	6503	SO:0001587	stop_gained	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017878C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1392G>A	6.37:g.43017878C>T	ENSP00000265348:p.Trp464*					CUL7_ENST00000265348.3_Nonsense_Mutation_p.W464*	p.W548*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	1730	-			464					B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	ENST00000265348.3	37	c.1644G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	37	6.253305	0.97417	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.12	5.12	0.69794	.	0.258920	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9001	13.3299	0.60480	0.0:0.7068:0.2932:0.0	.	.	.	.	X	464;548	.	ENSP00000265348:W464X	W	-	3	0	CUL7	43125856	.	.	1.000000	0.80357	0.637000	0.38172	.	.	2.395000	0.81488	0.655000	0.94253	TGG		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		24	530	0	0	0	1	0	24	530					T	43017878	C	T	43017878	4	4	79	1	0	0	0	0	0	1	0	0	4071	856	30	2	3788	2	CUL7	6	43017878	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	43017878	128097189	7420	17737											
CUL7	9820	broad.mit.edu	37	chr6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatggcccacgcgctggCggatcagctcatcaggatag	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000265348.3	-	2	165	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_ENST00000535468.1_Missense_Mutation_p.R79H			Q14999	CUL7_HUMAN	cullin 7	27					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(235-237)cGc>cAc		cullin 7							53	56	55					6																	43020447		2203	4299	6502	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43020447C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.80G>A	6.37:g.43020447C>T	ENSP00000265348:p.Arg27His					CUL7_ENST00000265348.3_Missense_Mutation_p.R27H	p.R79H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	322	-			27					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.236G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112437	0.94339	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85484	-1.95;-1.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.89366	0.3671	10	0.87932	D	0	-1.0124	16.2712	0.82622	0.0:0.8676:0.1324:0.0	.	79;27	F5H0L1;Q14999	.;CUL7_HUMAN	H	27;79	ENSP00000265348:R27H;ENSP00000438788:R79H	ENSP00000265348:R27H	R	-	2	0	CUL7	43128425	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.828000	0.69307	2.739000	0.93911	0.561000	0.74099	CGC		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		74	307	0	0	0	1	0	74	307					T	43020447	C	T	43020447	3	4	79	1	0	0	0	0	1	0	0	0	4071	768	27	1	5212	1	CUL7	6	43020447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2569	43020447	128094620	7421	17738											
PTK7	5754	broad.mit.edu	37	chr6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagggattgaggcaggtcCtgtggtcctgaagcatccag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	128	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGCAGGTCCTGTGGTCCTG	0.612											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(382-384)cCt>cAt		protein tyrosine kinase 7							87	74	78					6																	43097480		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43097480C>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.383C>A	6.37:g.43097480C>A	ENSP00000230419:p.Pro128His		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H	p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	604	+			128			Ig-like C2-type 2.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.383C>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068967	0.76301	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.53	5.53	0.82687	Immunoglobulin-like (1);	0.279534	0.39146	N	0.001457	T	0.70815	0.3267	M	0.89968	3.075	0.30688	N	0.751661	B;D;P;D;D;D	0.89917	0.116;0.993;0.94;0.978;0.973;1.0	B;P;P;P;P;D	0.80764	0.063;0.854;0.717;0.854;0.852;0.994	T	0.73503	-0.3962	10	0.72032	D	0.01	.	14.0021	0.64439	0.0:0.7268:0.2732:0.0	.	136;128;128;128;128;128	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	128;128;128;128;128;136;136	ENSP00000230419:P128H;ENSP00000419037:P128H;ENSP00000325462:P128H;ENSP00000326029:P128H;ENSP00000325992:P128H;ENSP00000418754:P136H	ENSP00000230418:P128H	P	+	2	0	PTK7	43205458	0.011000	0.17503	0.996000	0.52242	0.989000	0.77384	1.593000	0.36686	2.596000	0.87737	0.462000	0.41574	CCT		0.612	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			42	273	1	0	1.03325e-14	1	1.12462e-14	42	273					A	43097480	C	A	43097480	3	1	79	1	0	0	0	0	1	0	0	0	12813	681	24	3	393	3	PTK7	6	43097480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77033	43097480	128017587	7422	17739											
PTK7	5754	broad.mit.edu	37	chr6	43113120	43113120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtgcggctcctggggCtgtgccgggaggctgagccc	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000481273.1_Silent_p.L872L|PTK7_ENST00000345201.2_Silent_p.L824L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	864	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTCCTGGGGCTGTGCCGGGA	0.622																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2590-2592)Ctg>Ttg		protein tyrosine kinase 7							62	56	58					6																	43113120		2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43113120C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2590C>T	6.37:g.43113120C>T						PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000481273.1_Silent_p.L872L	p.L864L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		16	2811	+			864			Interaction with CTNNB1.|Protein kinase; inactive.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2590C>T	CCDS4884.1																																																																																				0.622	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			77	309	0	0	0	1	0	77	309					T	43113120	C	T	43113120	2	4	79	1	0	0	0	0	0	0	0	1	12813	796	28	2		2	PTK7	6	43113120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15640	43113120	128001947	7423	17740											
CUL9	23113	broad.mit.edu	37	chr6	43152468	43152468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccccaagcctcacggcCgctgtgcttcacaccatcca	9	18	2	0	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000252050.4	+	2	504	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000372647.2_Silent_p.A140A|CUL9_ENST00000354495.3_Silent_p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	140					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCTCACGGCCGCTGTGCTTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.0					ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(418-420)gcC>gcT		cullin 9		C		0,4406		0,0,2203	66	66	66		420	-3.6	0.8	6	dbSNP_134	66	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	CUL9	NM_015089.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		140/2518	43152468	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152468C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.420C>T	6.37:g.43152468C>T						CUL9_ENST00000354495.3_Silent_p.A140A|CUL9_ENST00000372647.2_Silent_p.A140A	p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			2	504	+			140					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.420C>T	CCDS4890.1																																																																																				0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		92	423	0	0	0	1	0	92	423					T	43152468	C	T	43152468	2	4	79	1	0	0	0	0	0	0	0	1	4072	639	23	1		1	CUL9	6	43152468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39348	43152468	127962599	7424	17741											
CUL9	23113	broad.mit.edu	37	chr6	43155466	43155466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaccctgggtgaaaagGccctaggtgagatctctgtg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43155466G>A	ENST00000252050.4	+	7	1681	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CUL9_ENST00000372647.2_Missense_Mutation_p.A533T|CUL9_ENST00000354495.3_Missense_Mutation_p.A423T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	533					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGTGAAAAGGCCCTAGGTGA	0.517																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(1597-1599)Gcc>Acc		cullin 9							139	146	144					6																	43155466		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155466G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1597G>A	6.37:g.43155466G>A	ENSP00000252050:p.Ala533Thr					CUL9_ENST00000354495.3_Missense_Mutation_p.A423T|CUL9_ENST00000372647.2_Missense_Mutation_p.A533T	p.A533T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			7	1681	+			533					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.1597G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899556	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73681	-0.77;-0.71;-0.67	5.61	2.82	0.32997	.	0.786770	0.12384	N	0.473642	T	0.49321	0.1550	L	0.50333	1.59	0.36224	D	0.852169	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.10450	0.002;0.002;0.005	T	0.34030	-0.9845	10	0.40728	T	0.16	-7.4482	7.3	0.26415	0.1366:0.0:0.7271:0.1363	.	533;533;533	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	533;423;533	ENSP00000252050:A533T;ENSP00000346490:A423T;ENSP00000361730:A533T	ENSP00000252050:A533T	A	+	1	0	CUL9	43263444	0.001000	0.12720	0.336000	0.25522	0.711000	0.40976	0.341000	0.19909	0.292000	0.22492	0.467000	0.42956	GCC		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		14	614	0	0	0	1	0	14	614					A	43155466	G	A	43155466	3	1	79	1	0	0	0	0	1	0	0	0	4072	1203	42	2	1619	2	CUL9	6	43155466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2998	43155466	127959601	7425	17742											
CUL9	23113	broad.mit.edu	37	chr6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttgctgggggtgtggCctgtaccagtacagatgtcc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000252050.4	+	30	5843	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1920					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGGGTGTGGCCTGTACCAGT	0.577																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5758-5760)gCc>gTc		cullin 9							104	105	104					6																	43182887		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182887C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5759C>T	6.37:g.43182887C>T	ENSP00000252050:p.Ala1920Val					CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|RP3-330M21.5_ENST00000500590.1_RNA	p.A1920V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5843	+			1920					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5759C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818911	0.50633	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.72;-0.72;-0.62	5.11	3.22	0.36961	Cullin protein, neddylation domain (1);	0.807022	0.11802	N	0.528084	T	0.44603	0.1301	L	0.43152	1.355	0.29803	N	0.832275	P;B;B	0.45827	0.867;0.09;0.079	B;B;B	0.39027	0.288;0.028;0.021	T	0.42932	-0.9422	10	0.72032	D	0.01	-8.4531	6.4064	0.21666	0.0:0.5913:0.304:0.1047	.	1810;1892;1920	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1920;1810;1892	ENSP00000252050:A1920V;ENSP00000346490:A1810V;ENSP00000361730:A1892V	ENSP00000252050:A1920V	A	+	2	0	CUL9	43290865	0.910000	0.30920	0.999000	0.59377	0.733000	0.41908	0.174000	0.16743	2.377000	0.81083	0.655000	0.94253	GCC		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		138	580	0	0	0	1	0	138	580					T	43182887	C	T	43182887	3	4	79	1	0	0	0	0	1	0	0	0	4072	739	26	2	5873	2	CUL9	6	43182887	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27421	43182887	127932180	7426	17743											
TTBK1	84630	broad.mit.edu	37	chr6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaatggcctcccacgagCtgtgcctctgagtctgccct	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	678					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCACGAGCTGTGCCTCTG	0.627																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2032-2034)gCt>gTt		tau tubulin kinase 1							95	104	101					6																	43250511		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250511C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2033C>T	6.37:g.43250511C>T	ENSP00000259750:p.Ala678Val						p.A678V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2116	+			678					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2033C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561581	0.27915	.	.	ENSG00000146216	ENST00000259750	T	0.50813	0.73	4.27	3.39	0.38822	.	0.517766	0.18275	N	0.146196	T	0.13457	0.0326	N	0.25647	0.755	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07888	-1.0749	10	0.17832	T	0.49	.	6.3882	0.21572	0.0:0.6956:0.0:0.3044	.	678	Q5TCY1	TTBK1_HUMAN	V	678	ENSP00000259750:A678V	ENSP00000259750:A678V	A	+	2	0	TTBK1	43358489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.835000	0.39181	0.775000	0.33450	-0.300000	0.09419	GCT		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			131	651	0	0	0	1	0	131	651					T	43250511	C	T	43250511	3	4	79	1	0	0	0	0	1	0	0	0	16730	797	28	2	2083	2	TTBK1	6	43250511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67624	43250511	127864556	7427	17744											
TTBK1	84630	broad.mit.edu	37	chr6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcacattgcggagaaAacccacctcaacgtcatgtc	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	936					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTGCGGAGAAAACCCACCTCA	0.637																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2806-2808)aaA>aaC		tau tubulin kinase 1							78	71	73					6																	43251286		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251286A>C	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2808A>C	6.37:g.43251286A>C	ENSP00000259750:p.Lys936Asn						p.K936N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2891	+			936					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2808A>C	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074841	0.55646	.	.	ENSG00000146216	ENST00000259750	T	0.57273	0.41	5.14	2.48	0.30137	.	0.073927	0.53938	D	0.000057	T	0.40196	0.1107	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.35450	-0.9788	10	0.66056	D	0.02	.	7.7415	0.28843	0.6333:0.0:0.3667:0.0	.	936	Q5TCY1	TTBK1_HUMAN	N	936	ENSP00000259750:K936N	ENSP00000259750:K936N	K	+	3	2	TTBK1	43359264	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.055000	0.30467	0.190000	0.20209	0.379000	0.24179	AAA		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			14	465	0	0	0	1	0	14	465					C	43251286	A	C	43251286	3	2	79	1	0	0	0	0	1	0	0	0	16730	11	1	4	2858	4	TTBK1	6	43251286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	775	43251286	127863781	7428	17745											
SLC22A7	10864	broad.mit.edu	37	chr6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgccctgctctcaggGctgggagtacgaccactcag	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	116					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)	TGCTCTCAGGGCTGGGAGTAC	0.572																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(346-348)gGc>gAc		solute carrier family 22 (organic anion transporter), member 7							62	66	64					6																	43266443		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266443G>A	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.347G>A	6.37:g.43266443G>A	ENSP00000361666:p.Gly116Asp					SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D	p.G116D	NM_153320.2	NP_696961.2	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)		1	442	+			116					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.347G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392893	0.83011	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.63	4.76	0.60689	Major facilitator superfamily domain (1);	0.105475	0.64402	D	0.000004	T	0.66567	0.2802	M	0.90595	3.13	0.49915	D	0.999835	D;D;D	0.61697	0.99;0.987;0.987	D;D;D	0.71414	0.973;0.954;0.954	T	0.75897	-0.3155	10	0.87932	D	0	.	13.7614	0.62968	0.0:0.0:0.8451:0.1549	.	116;116;116	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	116	ENSP00000411818:G116D;ENSP00000361670:G116D;ENSP00000361666:G116D;ENSP00000361655:G116D	ENSP00000361655:G116D	G	+	2	0	SLC22A7	43374421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.944000	0.70219	1.361000	0.45981	0.563000	0.77884	GGC		0.572	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			52	218	0	0	0	1	0	52	218					A	43266443	G	A	43266443	3	1	79	1	0	0	0	0	1	0	0	0	14509	1203	42	2	349	2	SLC22A7	6	43266443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15157	43266443	127848624	7429	17746											
ZNF318	24149	broad.mit.edu	37	chr6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcttttacttcctcaggCatcattcctcctgctaacag	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2135					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCAGGCATCATTCCTC	0.458																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6403-6405)atG>atA		zinc finger protein 318							60	57	58					6																	43305331		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305331C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6405G>A	6.37:g.43305331C>T	ENSP00000354964:p.Met2135Ile					ZNF318_ENST00000318149.3_Intron	p.M2135I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6482	-			2135					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6405G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379689	0.42207	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	6.08	5.2	0.72013	.	0.178249	0.40385	N	0.001120	T	0.03220	0.0094	L	0.27053	0.805	0.80722	D	1	B	0.24920	0.114	B	0.21708	0.036	T	0.27971	-1.0058	10	0.48119	T	0.1	-7.5726	6.961	0.24597	0.0:0.826:0.0:0.174	.	2135	Q5VUA4	ZN318_HUMAN	I	2135	ENSP00000354964:M2135I	ENSP00000354964:M2135I	M	-	3	0	ZNF318	43413309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.650000	0.24858	2.894000	0.99253	0.655000	0.94253	ATG		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		34	181	0	0	0	1	0	34	181					T	43305331	C	T	43305331	3	4	79	1	0	0	0	0	1	0	0	0	17889	710	25	2	438	2	ZNF318	6	43305331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38888	43305331	127809736	7430	17747											
ZNF318	24149	broad.mit.edu	37	chr6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaccctataggtgatacaGaattttcttcacacactttc	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6142-6144)tCt>tTt		zinc finger protein 318							91	82	85					6																	43305593		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305593G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6143C>T	6.37:g.43305593G>A	ENSP00000354964:p.Ser2048Phe					ZNF318_ENST00000318149.3_Intron	p.S2048F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6220	-			2048					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6143C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	ZNF318	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		58	255	0	0	0	1	0	58	255					A	43305593	G	A	43305593	3	1	79	1	0	0	0	0	1	0	0	0	17889	942	33	2	700	2	ZNF318	6	43305593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	43305593	127809474	7431	17748											
ZNF318	24149	broad.mit.edu	37	chr6	43305786	43305786	+	Missense_Mutation	SNP	C	C	T													tgttaactctggatggacatCttgtagctccagtgcttctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	ENST00000361428.2	-	10	6027	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1984					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGGACATCTTGTAGCTCC	0.453																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5950-5952)Gat>Aat		zinc finger protein 318							124	123	124					6																	43305786		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305786C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5950G>A	6.37:g.43305786C>T	ENSP00000354964:p.Asp1984Asn					ZNF318_ENST00000318149.3_Intron	p.D1984N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6027	-			1984					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5950G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240561	0.10023	.	.	ENSG00000171467	ENST00000361428	T	0.12255	2.7	6.08	2.36	0.29203	.	0.778709	0.11980	N	0.510918	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.33620	0.167	T	0.39722	-0.9600	10	0.46703	T	0.11	-1.15	8.5349	0.33357	0.0:0.6238:0.0:0.3762	.	1984	Q5VUA4	ZN318_HUMAN	N	1984	ENSP00000354964:D1984N	ENSP00000354964:D1984N	D	-	1	0	ZNF318	43413764	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	-0.323000	0.07997	0.471000	0.27319	0.655000	0.94253	GAT		0.453	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		95	486	0	0	0	1	0	95	486					T	43305786	C	T	43305786	3	4	79	1	0	0	0	0	1	0	0	0	17889	913	32	2	893	2	ZNF318	6	43305786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	43305786	127809281	7432	17749	108	2									
ZNF318	24149	broad.mit.edu	37	chr6	43305787	43305787	+	Silent	SNP	T	T	C													gttaactctggatggacatcTtgtagctccagtgcttctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	ENST00000361428.2	-	10	6026	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1983					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGGACATCTTGTAGCTCCA	0.453																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5947-5949)caA>caG		zinc finger protein 318							124	123	123					6																	43305787		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305787T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5949A>G	6.37:g.43305787T>C						ZNF318_ENST00000318149.3_Intron	p.Q1983Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6026	-			1983					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.5949A>G	CCDS4895.2																																																																																				0.453	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		143	440	0	0	0	1	0	143	440					C	43305787	T	C	43305787	2	2	79	1	0	0	0	0	0	0	0	1	17889	1606	56	4		4	ZNF318	6	43305787	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	43305787	127809280	7433	17750	108	2									
ZNF318	24149	broad.mit.edu	37	chr6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacaacaggcatccaaGggctggtatgtgcaacaaca	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1335					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCATCCAAGGGCTGGTATG	0.478																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(4003-4005)cCt>cAt		zinc finger protein 318							197	187	190					6																	43307732		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307732G>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4004C>A	6.37:g.43307732G>T	ENSP00000354964:p.Pro1335His					ZNF318_ENST00000318149.3_Intron	p.P1335H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4081	-			1335					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.4004C>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880334	0.51801	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	.	0.091491	0.48286	D	0.000183	T	0.55337	0.1914	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58411	-0.7641	10	0.59425	D	0.04	-7.3954	15.3144	0.74062	0.0:0.1393:0.8607:0.0	.	1335	Q5VUA4	ZN318_HUMAN	H	1335	ENSP00000354964:P1335H	ENSP00000354964:P1335H	P	-	2	0	ZNF318	43415710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.178000	0.77657	2.683000	0.91414	0.655000	0.94253	CCT		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		123	502	1	0	2.36156e-58	1	2.96174e-58	123	502					T	43307732	G	T	43307732	3	4	79	1	0	0	0	0	1	0	0	0	17889	1000	35	3	2839	3	ZNF318	6	43307732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1945	43307732	127807335	7434	17751											
ZNF318	24149	broad.mit.edu	37	chr6	43308239	43308239	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggttttcatccacatatTtctgggaagaaaaaagataa	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1166					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCACATATTTCTGGGAAGA	0.448																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.e10-1		zinc finger protein 318							21	22	22					6																	43308239		2024	4166	6190	SO:0001630	splice_region_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308239T>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3496-1A>C	6.37:g.43308239T>G						ZNF318_ENST00000318149.3_Intron	p.K1166_splice	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3574	-			1166					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Splice_Site	SNP	ENST00000361428.2	37	c.3495_splice	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172794	0.57584	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	Zinc finger, U1-type (1);	0.118294	0.56097	D	0.000028	T	0.65344	0.2682	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69971	-0.5000	10	0.72032	D	0.01	-9.9518	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1166	Q5VUA4	ZN318_HUMAN	T	1166	ENSP00000354964:K1166T	ENSP00000354964:K1166T	K	-	2	0	ZNF318	43416217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.399000	0.59703	2.168000	0.68352	0.533000	0.62120	AAA		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	Missense_Mutation	22	182	0	0	0	1	0	22	182					G	43308239	T	G	43308239	5	3	79	1	0	0	0	0	0	0	1	0	17889	1855	64	4	3346	4	ZNF318	6	43308239	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	507	43308239	127806828	7435	17752											
ZNF318	24149	broad.mit.edu	37	chr6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccgatgcaaagaatatcCtggctccgatgctgttagga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	364					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGAATATCCTGGCTCCGAT	0.512																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1090-1092)Gga>Tga		zinc finger protein 318							176	144	155					6																	43324962		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43324962C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1090G>T	6.37:g.43324962C>A	ENSP00000354964:p.Gly364*					ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	1167	-			364					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.1090G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	37	6.181517	0.97352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	5.64	0.86602	.	0.175232	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6293	13.5617	0.61793	0.0:0.7976:0.2024:0.0	.	.	.	.	X	364	.	ENSP00000323032:G364X	G	-	1	0	ZNF318	43432940	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	3.062000	0.49971	2.663000	0.90544	0.650000	0.86243	GGA		0.512	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		68	315	1	0	1.42676e-28	1	1.66098e-28	68	315					A	43324962	C	A	43324962	4	1	79	1	0	0	0	0	0	1	0	0	17889	690	24	3	5781	3	ZNF318	6	43324962	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16723	43324962	127790105	7436	17753											
ABCC10	89845	broad.mit.edu	37	chr6	43400035	43400035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagaggtgttggcagggtGcgtggcagctgtggcctgga	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400035G>A	ENST00000372530.4	+	3	532	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.C63Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	106					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTGGCAGGGTGCGTGGCAGCT	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(187-189)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							70	68	69					6																	43400035		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400035G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.317G>A	6.37:g.43400035G>A	ENSP00000361608:p.Cys106Tyr					ABCC10_ENST00000372530.4_Missense_Mutation_p.C106Y|ABCC10_ENST00000443426.2_Intron	p.C63Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	547	+	all_lung(25;0.00536)		106					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.188G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207194	0.22205	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.38560	1.13;1.13	5.94	4.12	0.48240	.	0.099265	0.64402	D	0.000001	T	0.12774	0.0310	N	0.14661	0.345	0.34038	D	0.654614	P;P	0.42649	0.786;0.681	B;B	0.44044	0.439;0.254	T	0.08659	-1.0711	10	0.02654	T	1	-1.4033	16.6428	0.85130	0.0:0.2452:0.7548:0.0	.	63;106	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	106;63	ENSP00000361608:C106Y;ENSP00000244533:C63Y	ENSP00000244533:C63Y	C	+	2	0	ABCC10	43508013	1.000000	0.71417	0.815000	0.32552	0.020000	0.10135	6.256000	0.72473	0.810000	0.34279	0.561000	0.74099	TGC		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		10	447	0	0	0	1	0	10	447					A	43400035	G	A	43400035	3	1	79	1	0	0	0	0	1	0	0	0	50	1319	46	2	190	2	ABCC10	6	43400035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75073	43400035	127715032	7437	17754											
ABCC10	89845	broad.mit.edu	37	chr6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcacccttgctggcccgtGgggcctgtggagagctccgg	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000372530.4	+	3	921	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.G193W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	236					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTGGCCCGTGGGGCCTGTGG	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(577-579)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							42	44	43					6																	43400424		2202	4300	6502	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400424G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.706G>T	6.37:g.43400424G>T	ENSP00000361608:p.Gly236Trp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G236W|ABCC10_ENST00000443426.2_Intron	p.G193W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	936	+	all_lung(25;0.00536)		236					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.577G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458568	0.84317	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.95690	-3.78;-3.66	5.54	5.54	0.83059	.	0.056809	0.64402	D	0.000001	D	0.96156	0.8747	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-37.4308	19.4753	0.94985	0.0:0.0:1.0:0.0	.	193;236	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	236;193	ENSP00000361608:G236W;ENSP00000244533:G193W	ENSP00000244533:G193W	G	+	1	0	ABCC10	43508402	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.799000	0.99117	2.607000	0.88179	0.561000	0.74099	GGG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		84	388	1	0	4.05715e-38	1	4.88277e-38	84	388					T	43400424	G	T	43400424	3	4	79	1	0	0	0	0	1	0	0	0	50	1348	47	3	579	3	ABCC10	6	43400424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	43400424	127714643	7438	17755											
ABCC10	89845	broad.mit.edu	37	chr6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcctgtggagagctcCggcagcctcaggacatttgc	16	11	1	1	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000372530.4	+	3	939	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R199W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGAGAGCTCCGGCAGCCTCA	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(595-597)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	39	41	40		724,595	4.7	1	6	dbSNP_134	40	1,8599		0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	242/1493,199/1465	43400442	1,13005	2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400442C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.724C>T	6.37:g.43400442C>T	ENSP00000361608:p.Arg242Trp					ABCC10_ENST00000372530.4_Missense_Mutation_p.R242W|ABCC10_ENST00000443426.2_Intron	p.R199W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	954	+	all_lung(25;0.00536)		242					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.595C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754339	0.49362	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91124	-2.78;-2.79	5.54	4.66	0.58398	.	0.660669	0.16213	N	0.224391	D	0.83069	0.5174	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.64830	0.994;0.978	P;B	0.51229	0.663;0.232	T	0.78306	-0.2255	10	0.72032	D	0.01	-34.6797	13.566	0.61819	0.4012:0.5988:0.0:0.0	.	199;242	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	242;199	ENSP00000361608:R242W;ENSP00000244533:R199W	ENSP00000244533:R199W	R	+	1	2	ABCC10	43508420	0.980000	0.34600	0.973000	0.42090	0.700000	0.40528	2.161000	0.42358	1.316000	0.45131	0.561000	0.74099	CGG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		10	402	0	0	0	1	0	10	402					T	43400442	C	T	43400442	3	4	79	1	0	0	0	0	1	0	0	0	50	643	23	1	597	1	ABCC10	6	43400442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	43400442	127714625	7439	17756											
ABCC10	89845	broad.mit.edu	37	chr6	43417778	43417778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactccctgttccagcaGctgctgcagagcagccagca	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000372530.4	+	22	4643	c.4428G>A	c.(4426-4428)caG>caA	p.Q1476Q	ABCC10_ENST00000244533.3_Silent_p.Q1448Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGTTCCAGCAGCTGCTGCAGA	0.652																																						ENST00000244533.3																			1	Substitution - Missense(1)	p.Q1448H(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4342-4344)caG>caA		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							53	60	57					6																	43417778		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417778G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4428G>A	6.37:g.43417778G>A						ABCC10_ENST00000372530.4_Silent_p.Q1476Q	p.Q1448Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		20	4703	+	all_lung(25;0.00536)		1476			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.4344G>A	CCDS56430.1																																																																																				0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		35	474	0	0	0	1	0	35	474					A	43417778	G	A	43417778	2	1	79	1	0	0	0	0	0	0	0	1	50	962	34	2		2	ABCC10	6	43417778	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17336	43417778	127697289	7440	17757											
DLK2	65989	broad.mit.edu	37	chr6	43418966	43418966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcacgtgaagttgagagCaaagccctggtcgtcctggc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43418966C>T	ENST00000357338.3	-	6	1163	c.463G>A	c.(463-465)Gct>Act	p.A155T	DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	155	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGTTGAGAGCAAAGCCCTGG	0.592																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(463-465)Gct>Act		delta-like 2 homolog (Drosophila)							76	50	59					6																	43418966		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418966C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.463G>A	6.37:g.43418966C>T	ENSP00000349893:p.Ala155Thr					DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T|DLK2_ENST00000372488.3_Missense_Mutation_p.A155T	p.A155T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1163	-	all_lung(25;0.00536)		155			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.463G>A	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010763	0.93346	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.51	4.51	0.55191	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.37800	1.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.88787	0.3275	10	0.49607	T	0.09	.	17.7506	0.88432	0.0:1.0:0.0:0.0	.	155	Q6UY11	DLK2_HUMAN	T	149;155;155;149	ENSP00000361563:A149T;ENSP00000361566:A155T;ENSP00000349893:A155T;ENSP00000398906:A149T	ENSP00000349893:A155T	A	-	1	0	DLK2	43526944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.355000	0.79434	2.507000	0.84556	0.455000	0.32223	GCT		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		7	185	0	0	0	1	0	7	185					T	43418966	C	T	43418966	3	4	79	1	0	0	0	0	1	0	0	0	4581	710	25	2	692	2	DLK2	6	43418966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1188	43418966	127696101	7441	17758											
DLK2	65989	broad.mit.edu	37	chr6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtggcaggtaccgtgCtggcagccaggcatcctcac	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	67	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(199-201)caG>caT		delta-like 2 homolog (Drosophila)							53	42	46					6																	43420813		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43420813C>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.201G>T	6.37:g.43420813C>A	ENSP00000349893:p.Gln67His					DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H|DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H	p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	901	-	all_lung(25;0.00536)		67			EGF-like 2.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.201G>T	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457599|3.457599	0.63401|0.63401	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;T;T;D|.	0.89875|.	-2.58;-0.23;-0.23;-2.58|.	4.72|4.72	3.85|3.85	0.44370|0.44370	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.488214|.	0.20090|.	N|.	0.099473|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.20328|0.20328	0.56|0.56	0.37571|0.37571	D|D	0.919444|0.919444	P|.	0.52316|.	0.952|.	B|.	0.42163|.	0.378|.	T|T	0.06445|0.06445	-1.0826|-1.0826	10|5	0.42905|.	T|.	0.14|.	.|.	4.6506|4.6506	0.12592|0.12592	0.1278:0.4869:0.3006:0.0847|0.1278:0.4869:0.3006:0.0847	.|.	67|.	Q6UY11|.	DLK2_HUMAN|.	H|I	67|4	ENSP00000361563:Q67H;ENSP00000361566:Q67H;ENSP00000349893:Q67H;ENSP00000398906:Q67H|.	ENSP00000349893:Q67H|.	Q|S	-|-	3|2	2|0	DLK2|DLK2	43528791|43528791	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	-0.042000|-0.042000	0.12063|0.12063	1.115000|1.115000	0.41800|0.41800	-0.350000|-0.350000	0.07774|0.07774	CAG|AGC		0.632	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		58	188	1	0	2.47907e-22	1	2.80423e-22	58	188					A	43420813	C	A	43420813	3	1	79	1	0	0	0	0	1	0	0	0	4581	796	28	3	962	3	DLK2	6	43420813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1847	43420813	127694254	7442	17759											
YIPF3	25844	broad.mit.edu	37	chr6	43480031	43480031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgggcgggatgttgggGccctccagtgtgtccaggat	18	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000372422.2	-	9	1109	c.927C>A	c.(925-927)ggC>ggA	p.G309G	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.G315G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(925-927)ggC>ggA		Yip1 domain family, member 3							71	79	76					6																	43480031		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480031G>T	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.927C>A	6.37:g.43480031G>T						YIPF3_ENST00000506469.1_Silent_p.G315G	p.G309G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1109	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		309					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.927C>A	CCDS4899.1																																																																																				0.612	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		87	388	1	0	3.48785e-55	1	4.35778e-55	87	388					T	43480031	G	T	43480031	2	4	79	1	0	0	0	0	0	0	0	1	17533	1190	42	3		3	YIPF3	6	43480031	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59218	43480031	127635036	7443	17760											
YIPF3	25844	broad.mit.edu	37	chr6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcatggtgatctggGcgttgcacaggtaggcaagg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000372422.2	-	6	814	c.632C>T	c.(631-633)gCc>gTc	p.A211V	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	211					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTGATCTGGGCGTTGCACAG	0.567																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(631-633)gCc>gTc		Yip1 domain family, member 3							123	124	124					6																	43480841		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480841G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.632C>T	6.37:g.43480841G>A	ENSP00000361499:p.Ala211Val					YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	p.A211V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		6	814	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		211					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.632C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590806	0.66219	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.44482	0.92;0.92	5.62	4.75	0.60458	.	0.050002	0.85682	D	0.000000	T	0.26557	0.0649	L	0.43152	1.355	0.80722	D	1	P;B;P;B	0.42296	0.775;0.06;0.573;0.06	B;B;B;B	0.41412	0.356;0.028;0.14;0.028	T	0.04678	-1.0934	10	0.44086	T	0.13	-23.0835	13.9454	0.64082	0.0726:0.0:0.9274:0.0	.	160;217;176;211	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	211;160;217	ENSP00000361499:A211V;ENSP00000425494:A217V	ENSP00000361499:A211V	A	-	2	0	YIPF3	43588819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.653000	0.90120	0.655000	0.94253	GCC		0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		21	824	0	0	0	1	0	21	824					A	43480841	G	A	43480841	3	1	79	1	0	0	0	0	1	0	0	0	17533	1203	42	2	436	2	YIPF3	6	43480841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	810	43480841	127634226	7444	17761											
POLH	5429	broad.mit.edu	37	chr6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctccagacctgcagctcAccgtgggagcagtgattgtg	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTGCAGCTCACCGTGGGAGC	0.458								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(571-573)Acc>Gcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							120	121	120					6																	43565513		2203	4300	6503	SO:0001583	missense	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43565513A>G	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.571A>G	6.37:g.43565513A>G	ENSP00000361310:p.Thr191Ala					POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	p.T191A	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		5	866	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		191			UmuC.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.571A>G	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201592	0.09652	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.282328	0.40385	N	0.001111	T	0.13243	0.0321	N	0.00621	-1.32	0.39626	D	0.970104	B;B	0.12630	0.002;0.006	B;B	0.12837	0.005;0.008	T	0.33085	-0.9882	10	0.08381	T	0.77	-32.9496	9.0597	0.36427	0.9162:0.0:0.0838:0.0	.	129;191	B4DG64;Q9Y253	.;POLH_HUMAN	A	191;129;191	ENSP00000361310:T191A;ENSP00000442102:T129A;ENSP00000361300:T191A	ENSP00000361300:T191A	T	+	1	0	POLH	43673491	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.911000	0.48774	2.051000	0.60960	0.467000	0.42956	ACC		0.458	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		64	323	0	0	0	1	0	64	323					G	43565513	A	G	43565513	3	3	79	1	0	0	0	0	1	0	0	0	12244	159	6	4	585	4	POLH	6	43565513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84672	43565513	127549554	7445	17762											
RSPH9	221421	broad.mit.edu	37	chr6	43638647	43638647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggctacgtctacgtgggCactggcgagaagaacatgga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372163.4	+	5	845	c.792C>T	c.(790-792)ggC>ggT	p.G264G	RSPH9_ENST00000372165.4_Missense_Mutation_p.H282Y	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	264					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532									Kartagener syndrome																													ENST00000372165.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(844-846)Cac>Tac		radial spoke head 9 homolog (Chlamydomonas)							93	72	79					6																	43638647		2203	4300	6503	SO:0001819	synonymous_variant	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43638647C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"mitochondrial ribosomal protein S18A-like 1", "chromosome 6 open reading frame 206"	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.792C>T	6.37:g.43638647C>T						RSPH9_ENST00000372163.4_Silent_p.G264G	p.H282Y	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			6	897	+			0					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.844C>T	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104727	0.77096	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	5.11	0.69529	.	0.475237	0.26082	N	0.026444	T	0.42268	0.1195	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49969	-0.8882	8	0.87932	D	0	-0.498	13.149	0.59478	0.0:0.9227:0.0:0.0773	.	282	Q96NH9	.	Y	282	.	ENSP00000361238:H282Y	H	+	1	0	RSPH9	43746625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.430000	0.34914	1.536000	0.49237	0.655000	0.94253	CAC		0.532	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		56	223	0	0	0	1	0	56	223					T	43638647	C	T	43638647	2	4	79	1	0	0	0	0	0	0	0	1	13758	697	25	2		2	RSPH9	6	43638647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73134	43638647	127476420	7446	17763											
TMEM63B	55362	broad.mit.edu	37	chr6	44116249	44116249	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccagtgcccatctttctaGcatcctgaaggacttcaacg	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CATCTTTCTAGCATCCTGAAG	0.622																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.e14-1		transmembrane protein 63B							105	96	99					6																	44116249		2203	4300	6503	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116249G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1122-1G>T	6.37:g.44116249G>T						TMEM63B_ENST00000323267.6_Splice_Site				Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		14	1304	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)							B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	37		CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153572	0.57259	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1371	0.81494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44224227	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.663000	0.83820	2.280000	0.76307	0.563000	0.77884	.		0.622	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Intron	90	464	1	0	5.48297e-45	1	6.7172e-45	90	464					T	44116249	G	T	44116249	5	4	79	1	0	0	0	0	0	0	1	0	16243	985	34	3	1171	3	TMEM63B	6	44116249	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477602	44116249	126998818	7447	17764											
CAPN11	11131	broad.mit.edu	37	chr6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcatgatcaacctcatgGatgtatcctcctgtccagtg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1867-1869)Gat>Aat		calpain 11							232	236	235					6																	44148732		2045	4193	6238	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148732G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1867G>A	6.37:g.44148732G>A	ENSP00000381758:p.Asp623Asn					CAPN11_ENST00000398776.1_Missense_Mutation_p.D623N	p.D623N			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		18	1905	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		623			Domain IV.|EF-hand 1.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1867G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	g	34	5.303276	0.95601	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.95949	-3.86;-3.86	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.47455	D	0.000228	D	0.98896	0.9626	H	0.99169	4.455	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	17.4776	0.87664	0.0:0.0:1.0:0.0	.	277;623	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	623	ENSP00000381758:D623N;ENSP00000441078:D623N	ENSP00000381758:D623N	D	+	1	0	CAPN11	44256710	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.616000	0.98359	2.611000	0.88343	0.493000	0.49557	GAT		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			187	864	0	0	0	1	0	187	864					A	44148732	G	A	44148732	3	1	79	1	0	0	0	0	1	0	0	0	2631	1174	41	2	1937	2	CAPN11	6	44148732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32483	44148732	126966335	7448	17765											
NFKBIE	4794	broad.mit.edu	37	chr6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagatgtacagccagaTggagtgctgtctggaggcac	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	299					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(895-897)cAt>cGt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							20	21	21					6																	44229575		2201	4296	6497	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229575T>C	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.896A>G	6.37:g.44229575T>C	ENSP00000275015:p.His299Arg						p.H299R	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	895	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		299					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.896A>G	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922890	0.18056	.	.	ENSG00000146232	ENST00000275015	T	0.71341	-0.56	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.059370	0.64402	D	0.000003	D	0.85323	0.5670	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	10	0.87932	D	0	-0.4291	14.894	0.70630	0.0:0.0:0.0:1.0	.	299	O00221	IKBE_HUMAN	R	299	ENSP00000275015:H299R	ENSP00000275015:H299R	H	-	2	0	NFKBIE	44337553	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.040000	0.89188	2.000000	0.58554	0.533000	0.62120	CAT		0.612	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			7	137	0	0	0	1	0	7	137					C	44229575	T	C	44229575	3	2	79	1	0	0	0	0	1	0	0	0	10422	1464	51	4	622	4	NFKBIE	6	44229575	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80843	44229575	126885492	7449	17766											
TCTE1	202500	broad.mit.edu	37	chr6	44247991	44247991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggattcagggcccgctggCgggctgcttctcggtttgcg	17	11	2	0	rs374037676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44247991C>T	ENST00000371505.4	-	5	1555	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	478										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCGCTGGCGGGCTGCTTC	0.557																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1432-1434)cGc>cAc		t-complex-associated-testis-expressed 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84	93	90		1433	5.2	1	6		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTE1	NM_182539.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	478/502	44247991	2,13004	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44247991C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1433G>A	6.37:g.44247991C>T	ENSP00000360560:p.Arg478His					TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|TMEM151B_ENST00000438774.2_Intron	p.R478H	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1555	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		478					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1433G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774680	0.70107	2.27E-4	1.16E-4	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.56275	1.89;0.47;0.47	5.17	5.17	0.71159	.	0.141693	0.47852	D	0.000202	T	0.29684	0.0741	N	0.25647	0.755	0.24946	N	0.99182	D	0.56968	0.978	B	0.44085	0.44	T	0.13629	-1.0502	10	0.34782	T	0.22	-40.833	17.2324	0.86988	0.0:1.0:0.0:0.0	.	478	Q5JU00	TCTE1_HUMAN	H	478;175;175	ENSP00000360560:R478H;ENSP00000360558:R175H;ENSP00000360559:R175H	ENSP00000360558:R175H	R	-	2	0	TCTE1	44355969	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.123000	0.31308	2.590000	0.87494	0.563000	0.77884	CGC		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		119	535	0	0	0	1	0	119	535					T	44247991	C	T	44247991	3	4	79	1	0	0	0	0	1	0	0	0	15769	768	27	1	76	1	TCTE1	6	44247991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18416	44247991	126867076	7450	17767											
AARS2	57505	broad.mit.edu	37	chr6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgctccccagtgacgGccagcaggcgggtagtgccc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGTGACGGCCAGCAGGCG	0.627																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2338-2340)gCc>gTc		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						36	35	36					6																	44270564		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270564G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2339C>T	6.37:g.44270564G>A	ENSP00000244571:p.Ala780Val					TMEM151B_ENST00000438774.2_Intron	p.A780V	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		17	2341	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		780						Missense_Mutation	SNP	ENST00000244571.4	37	c.2339C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360816	0.61403	.	.	ENSG00000124608	ENST00000244571	T	0.71817	-0.6	5.79	5.79	0.91817	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.110343	0.64402	D	0.000008	T	0.62974	0.2472	M	0.71581	2.175	0.80722	D	1	B	0.25390	0.125	B	0.22152	0.038	T	0.65693	-0.6106	10	0.87932	D	0	-17.9853	17.1959	0.86892	0.0:0.0:1.0:0.0	.	780	Q5JTZ9	SYAM_HUMAN	V	780	ENSP00000244571:A780V	ENSP00000244571:A780V	A	-	2	0	AARS2	44378542	1.000000	0.71417	0.965000	0.40720	0.353000	0.29299	6.556000	0.73932	2.733000	0.93635	0.655000	0.94253	GCC		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		31	137	0	0	0	1	0	31	137					A	44270564	G	A	44270564	3	1	79	1	0	0	0	0	1	0	0	0	20	1203	42	2	642	2	AARS2	6	44270564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22573	44270564	126844503	7451	17768											
AARS2	57505	broad.mit.edu	37	chr6	44272508	44272508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaggccactgctgtcccGtcctctgtatacagttgcaa	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTGTCCCGTCCTCTGTAT	0.617											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1624-1626)gaC>gaT		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						46	47	47					6																	44272508		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272508G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1626C>T	6.37:g.44272508G>A			OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.D542D	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1628	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		542						Silent	SNP	ENST00000244571.4	37	c.1626C>T	CCDS34464.1																																																																																				0.617	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		46	217	0	0	0	1	0	46	217					A	44272508	G	A	44272508	2	1	79	1	0	0	0	0	0	0	0	1	20	1136	40	1		1	AARS2	6	44272508	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1944	44272508	126842559	7452	17769											
AARS2	57505	broad.mit.edu	37	chr6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctctgacaccaggttgGcgatctgaaccaggcagaga	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCAGGTTGGCGATCTGAAC	0.587																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1192-1194)gCc>gAc		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						130	121	124					6																	44274124		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44274124G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1193C>A	6.37:g.44274124G>T	ENSP00000244571:p.Ala398Asp					TMEM151B_ENST00000438774.2_Intron	p.A398D	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1195	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		398						Missense_Mutation	SNP	ENST00000244571.4	37	c.1193C>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382178	0.24944	.	.	ENSG00000124608	ENST00000244571	T	0.72167	-0.63	4.27	1.43	0.22495	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.445087	0.24960	N	0.034237	T	0.41743	0.1172	L	0.45581	1.43	0.23120	N	0.998261	P	0.43542	0.81	P	0.46629	0.522	T	0.32955	-0.9887	10	0.14656	T	0.56	-3.1415	3.9844	0.09509	0.4692:0.0:0.3673:0.1635	.	398	Q5JTZ9	SYAM_HUMAN	D	398	ENSP00000244571:A398D	ENSP00000244571:A398D	A	-	2	0	AARS2	44382102	0.098000	0.21812	0.833000	0.33012	0.012000	0.07955	1.033000	0.30191	0.462000	0.27095	0.561000	0.74099	GCC		0.587	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		168	748	1	0	5.25129e-67	1	6.64947e-67	168	748					T	44274124	G	T	44274124	3	4	79	1	0	0	0	0	1	0	0	0	20	1203	42	3	1820	3	AARS2	6	44274124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1616	44274124	126840943	7453	17770											
AARS2	57505	broad.mit.edu	37	chr6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgacccacatcttccaGgtcgttatggtgtcctccag	9	14	2	0	rs186740566	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACATCTTCCAGGTCGTTATGG	0.517																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(352-354)Ctg>Atg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						180	141	154					6																	44279892		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279892G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.352C>A	6.37:g.44279892G>T	ENSP00000244571:p.Leu118Met						p.L118M	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	354	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		118						Missense_Mutation	SNP	ENST00000244571.4	37	c.352C>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630469	0.67015	.	.	ENSG00000124608	ENST00000244571	D	0.87966	-2.32	4.9	3.07	0.35406	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.93625	0.7964	H	0.95365	3.66	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.94091	0.7353	10	0.87932	D	0	-13.8404	10.0341	0.42118	0.2216:0.0:0.7784:0.0	.	118	Q5JTZ9	SYAM_HUMAN	M	118	ENSP00000244571:L118M	ENSP00000244571:L118M	L	-	1	2	AARS2	44387870	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.275000	0.43399	1.279000	0.44446	0.436000	0.28706	CTG		0.517	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		114	539	1	0	1.76152e-51	1	2.18623e-51	114	539					T	44279892	G	T	44279892	3	4	79	1	0	0	0	0	1	0	0	0	20	991	35	3	2689	3	AARS2	6	44279892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5768	44279892	126835175	7454	17771											
CDC5L	988	broad.mit.edu	37	chr6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgaggaaaactaccaaGctcttgacgcagatttcagg	9	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	234	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(700-702)Gct>Act		cell division cycle 5-like							68	72	70					6																	44371706		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371706G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.700G>A	6.37:g.44371706G>A	ENSP00000360532:p.Ala234Thr						p.A234T	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	999	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		234					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.700G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063710	0.20067	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	6.04	2.18	0.27775	.	0.513757	0.22903	N	0.054234	T	0.09024	0.0223	L	0.31752	0.955	0.27819	N	0.941867	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.14656	T	0.56	-2.4246	5.9318	0.19142	0.1846:0.0:0.4174:0.398	.	234	Q99459	CDC5L_HUMAN	T	234	ENSP00000360532:A234T	ENSP00000360532:A234T	A	+	1	0	CDC5L	44479684	0.448000	0.25681	0.998000	0.56505	0.799000	0.45148	-0.073000	0.11468	0.110000	0.17919	0.563000	0.77884	GCT		0.383	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			89	365	0	0	0	1	0	89	365					A	44371706	G	A	44371706	3	1	79	1	0	0	0	0	1	0	0	0	3091	971	34	2	722	2	CDC5L	6	44371706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91814	44371706	126743361	7455	17772											
CDC5L	988	broad.mit.edu	37	chr6	44394257	44394257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccttaaatgtagaaccGcctttaacagatttacagaa	6	9	0	4	rs375237261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTAGAACCGCCTTTAACAG	0.284																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1687-1689)ccG>ccA		cell division cycle 5-like		G		1,4405	2.1+/-5.4	0,1,2202	51	52	51		1689	-2.5	1	6		51	0,8596		0,0,4298	no	coding-synonymous	CDC5L	NM_001253.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		563/803	44394257	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44394257G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1689G>A	6.37:g.44394257G>A							p.P563P	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1988	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		563			Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.		Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	c.1689G>A	CCDS4912.1																																																																																				0.284	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			5	175	0	0	0	1	0	5	175					A	44394257	G	A	44394257	2	1	79	1	0	0	0	0	0	0	0	1	3091	1074	38	1		1	CDC5L	6	44394257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22551	44394257	126720810	7456	17773											
RUNX2	860	broad.mit.edu	37	chr6	45459688	45459688	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatttccagggcacagacaGaagcttgatgactctaaacc	8	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	232					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(694-696)caG>caA		runt-related transcription factor 2							436	351	380					6																	45459688		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459688G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.696G>A	6.37:g.45459688G>A						RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q	p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1054	+			232					O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.696G>A	CCDS43467.2																																																																																				0.418	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		79	958	0	0	0	1	0	79	958					A	45459688	G	A	45459688	2	1	79	1	0	0	0	0	0	0	0	1	13798	933	33	2		2	RUNX2	6	45459688	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1065431	45459688	125655379	7457	17774											
RUNX2	860	broad.mit.edu	37	chr6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgccatgcaccaccaCctcgaatggcagcacgctat	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	476	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1426-1428)aCc>aTc		runt-related transcription factor 2							94	87	89					6																	45514903		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514903C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1427C>T	6.37:g.45514903C>T	ENSP00000360493:p.Thr476Ile					RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I	p.T476I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			8	1785	+			476			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1427C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006934	0.74932	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	Runx inhibition (1);	0.043176	0.85682	D	0.000000	T	0.26340	0.0643	N	0.08118	0	0.53688	D	0.999974	P;P;P	0.49447	0.696;0.924;0.692	B;P;B	0.58266	0.373;0.836;0.275	T	0.34079	-0.9843	10	0.72032	D	0.01	-9.0178	20.3627	0.98863	0.0:1.0:0.0:0.0	.	522;476;462	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	476;544;522;476;454;462;440	ENSP00000420707:T476I;ENSP00000319087:T544I;ENSP00000446290:T522I;ENSP00000360493:T476I;ENSP00000360491:T454I;ENSP00000352514:T462I;ENSP00000360486:T440I	ENSP00000319087:T544I	T	+	2	0	RUNX2	45622881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACC		0.507	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		61	346	0	0	0	1	0	61	346					T	45514903	C	T	45514903	3	4	79	1	0	0	0	0	1	0	0	0	13798	507	18	2	1473	2	RUNX2	6	45514903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55215	45514903	125600164	7458	17775											
CLIC5	53405	broad.mit.edu	37	chr6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttggtgaactcatcacGggcataggcgttcttgaggt	15	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	383	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(1147-1149)Cgt>Tgt		chloride intracellular channel 5							139	106	117					6																	45870911		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45870911G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1147C>T	6.37:g.45870911G>A	ENSP00000185206:p.Arg383Cys					CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	p.R383C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			6	1299	-			383			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.1147C>T	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519403	0.64634	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95788	-3.81;-3.81	5.89	5.89	0.94794	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052231	0.85682	D	0.000000	D	0.94225	0.8146	M	0.87547	2.89	0.80722	D	1	P;B	0.45715	0.865;0.195	B;B	0.39119	0.291;0.026	D	0.94849	0.8012	10	0.66056	D	0.02	.	14.1243	0.65210	0.0:0.0:0.7506:0.2494	.	383;224	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	383;224	ENSP00000185206:R383C;ENSP00000344165:R224C	ENSP00000185206:R383C	R	-	1	0	CLIC5	45978889	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.030000	0.49720	2.790000	0.95986	0.637000	0.83480	CGT		0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			56	265	0	0	0	1	0	56	265					A	45870911	G	A	45870911	3	1	79	1	0	0	0	0	1	0	0	0	3538	1116	39	1	89	1	CLIC5	6	45870911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356008	45870911	125244156	7459	17776											
ENPP4	22875	broad.mit.edu	37	chr6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactatgtggctaaacaattCgaacccaccagtcacctttg	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(520-522)tCg>tTg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							113	112	112					6																	46107841		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107841C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.521C>T	6.37:g.46107841C>T	ENSP00000318066:p.Ser174Leu						p.S174L	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	751	+			174					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.521C>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	ENPP4	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG		0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			101	540	0	0	0	1	0	101	540					T	46107841	C	T	46107841	3	4	79	1	0	0	0	0	1	0	0	0	5150	893	31	1	523	1	ENPP4	6	46107841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236930	46107841	125007226	7460	17777											
ENPP4	22875	broad.mit.edu	37	chr6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaacctggattcctgcatcGatcattcatactacactctt	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	256					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(766-768)Gat>Tat		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							95	93	93					6																	46108086		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46108086G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.766G>T	6.37:g.46108086G>T	ENSP00000318066:p.Asp256Tyr						p.D256Y	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	996	+			256					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.766G>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848678	0.17034	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77229	-1.08	5.67	-4.04	0.04010	Alkaline-phosphatase-like, core domain (1);	0.748364	0.14196	N	0.334993	T	0.73265	0.3565	M	0.88105	2.93	0.09310	N	1	P	0.44690	0.841	P	0.50314	0.637	T	0.73786	-0.3873	10	0.87932	D	0	-1.2773	8.3418	0.32247	0.4755:0.099:0.4256:0.0	.	256	Q9Y6X5	ENPP4_HUMAN	Y	256	ENSP00000318066:D256Y	ENSP00000318066:D256Y	D	+	1	0	ENPP4	46216045	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	-1.063000	0.03177	-0.768000	0.03414	GAT		0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			12	356	1	0	1.5739e-10	1	1.67034e-10	12	356					T	46108086	G	T	46108086	3	4	79	1	0	0	0	0	1	0	0	0	5150	1058	37	3	768	3	ENPP4	6	46108086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245	46108086	125006981	7461	17778											
ENPP5	59084	broad.mit.edu	37	chr6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactctgtgtataagggaccAcccttggcattgctgaattg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1216-1218)gTg>gCg		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							174	160	165					6																	46129280		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129280A>G	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1217T>C	6.37:g.46129280A>G	ENSP00000360436:p.Val406Ala					ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A	p.V406A			Q9UJA9	ENPP5_HUMAN			5	1477	-			406						Missense_Mutation	SNP	ENST00000371383.2	37	c.1217T>C	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.432032	0.00184	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73469	-0.75;-0.75	5.1	-2.1	0.07210	.	6.658910	0.00166	N	0.000000	T	0.15825	0.0381	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.10902	T	0.67	3.9963	6.3607	0.21427	0.3714:0.0:0.5109:0.1177	.	406	Q9UJA9	ENPP5_HUMAN	A	406	ENSP00000360436:V406A;ENSP00000230565:V406A	ENSP00000230565:V406A	V	-	2	0	ENPP5	46237239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.369000	0.08028	-3.486000	0.00034	GTG		0.468	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			94	437	0	0	0	1	0	94	437					G	46129280	A	G	46129280	3	3	79	1	0	0	0	0	1	0	0	0	5151	159	6	4	220	4	ENPP5	6	46129280	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21194	46129280	124985787	7462	17779											
CYP39A1	51302	broad.mit.edu	37	chr6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtaatgacaccaggaGcttttaaacgaatggtttcc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	340					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1018-1020)gCt>gAt		cytochrome P450, family 39, subfamily A, polypeptide 1							93	100	97					6																	46563770		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46563770G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1019C>A	6.37:g.46563770G>T	ENSP00000275016:p.Ala340Asp						p.A340D	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			8	1222	-			340					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1019C>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870297	0.72065	.	.	ENSG00000146233	ENST00000275016	T	0.66995	-0.24	5.7	4.81	0.61882	.	0.299368	0.31734	N	0.007156	T	0.71829	0.3386	M	0.72894	2.215	0.41562	D	0.988633	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.76329	-0.2999	10	0.59425	D	0.04	-5.92	14.1785	0.65559	0.0:0.0:0.8503:0.1497	.	320;340	B7Z786;Q9NYL5	.;CP39A_HUMAN	D	340	ENSP00000275016:A340D	ENSP00000275016:A340D	A	-	2	0	CYP39A1	46671729	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	4.444000	0.60001	1.344000	0.45657	0.557000	0.71058	GCT		0.343	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			94	389	1	0	6.10891e-31	1	7.17913e-31	94	389					T	46563770	G	T	46563770	3	4	79	1	0	0	0	0	1	0	0	0	4188	971	34	3	410	3	CYP39A1	6	46563770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434490	46563770	124551297	7463	17780											
CYP39A1	51302	broad.mit.edu	37	chr6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacaaaggtcattcggtttCccatagcaaagactgtaaat	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	70					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(208-210)gGa>gAa		cytochrome P450, family 39, subfamily A, polypeptide 1							63	63	63					6																	46610004		2202	4297	6499	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46610004C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.209G>A	6.37:g.46610004C>T	ENSP00000275016:p.Gly70Glu						p.G70E	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			2	412	-			70					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.209G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846263	0.71603	.	.	ENSG00000146233	ENST00000275016	T	0.68479	-0.33	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	10	0.87932	D	0	-15.2661	17.2743	0.87111	0.0:1.0:0.0:0.0	.	70;70	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	70	ENSP00000275016:G70E	ENSP00000275016:G70E	G	-	2	0	CYP39A1	46717963	1.000000	0.71417	0.439000	0.26833	0.789000	0.44602	5.604000	0.67626	2.436000	0.82500	0.563000	0.77884	GGA		0.318	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			30	172	0	0	0	1	0	30	172					T	46610004	C	T	46610004	3	4	79	1	0	0	0	0	1	0	0	0	4188	855	30	2	1244	2	CYP39A1	6	46610004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46234	46610004	124505063	7464	17781											
TDRD6	221400	broad.mit.edu	37	chr6	46657569	46657569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaagagtgtggatgtattCttagttgaccgaggcaattc	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000316081.6	+	1	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.F568F|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	568	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1702-1704)ttC>ttT		tudor domain containing 6							169	167	167					6																	46657569		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657569C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1704C>T	6.37:g.46657569C>T						TDRD6_ENST00000316081.6_Silent_p.F568F	p.F568F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1958	+			568			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.1704C>T	CCDS34470.1																																																																																				0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		197	775	0	0	0	1	0	197	775					T	46657569	C	T	46657569	2	4	79	1	0	0	0	0	0	0	0	1	15786	912	32	2		2	TDRD6	6	46657569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47565	46657569	124457498	7465	17782											
TDRD6	221400	broad.mit.edu	37	chr6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatatatgtgaagaagaatTtgtagagtataaaaacaggg	11	1	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000316081.6	+	1	5936	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1979					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5935-5937)tTt>tAt		tudor domain containing 6							117	119	118					6																	46661801		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661801T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5936T>A	6.37:g.46661801T>A	ENSP00000346065:p.Phe1979Tyr					TDRD6_ENST00000316081.6_Missense_Mutation_p.F1979Y	p.F1979Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6190	+			1979					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5936T>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432198	0.43122	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.23754	1.89;1.92	5.41	2.87	0.33458	.	1.567150	0.03542	N	0.224098	T	0.20129	0.0484	M	0.63843	1.955	0.09310	N	1	P;P	0.45827	0.867;0.791	P;B	0.49829	0.623;0.419	T	0.13361	-1.0512	10	0.59425	D	0.04	-0.4369	5.8137	0.18479	0.1681:0.0:0.1756:0.6563	.	1979;1979	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1979;1979;40	ENSP00000443299:F1979Y;ENSP00000346065:F1979Y	ENSP00000346065:F1979Y	F	+	2	0	TDRD6	46769760	0.003000	0.15002	0.010000	0.14722	0.076000	0.17211	0.362000	0.20284	0.296000	0.22592	0.455000	0.32223	TTT		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		100	358	0	0	0	1	0	100	358					A	46661801	T	A	46661801	3	1	79	1	0	0	0	0	1	0	0	0	15786	1841	64	5	5938	5	TDRD6	6	46661801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4232	46661801	124453266	7466	17783											
PLA2G7	7941	broad.mit.edu	37	chr6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttacctgaatctctgatCttcactaagagtctgaataa	5	9	5	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	286					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(856-858)Gat>Aat		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							91	93	92					6																	46677077		2203	4296	6499	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46677077C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.856G>A	6.37:g.46677077C>T	ENSP00000274793:p.Asp286Asn					PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		9	1052	-			286					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.856G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345431	0.95807	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.56776	0.44;0.44	5.93	5.93	0.95920	.	0.093957	0.64402	D	0.000001	T	0.70675	0.3251	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71576	-0.4551	10	0.62326	D	0.03	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	286	Q13093	PAFA_HUMAN	N	286	ENSP00000274793:D286N;ENSP00000445666:D286N	ENSP00000274793:D286N	D	-	1	0	PLA2G7	46785036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.031000	0.76491	2.814000	0.96858	0.655000	0.94253	GAT		0.284	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			90	301	0	0	0	1	0	90	301					T	46677077	C	T	46677077	3	4	79	1	0	0	0	0	1	0	0	0	12051	913	32	2	485	2	PLA2G7	6	46677077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15276	46677077	124437990	7467	17784											
MEP1A	4224	broad.mit.edu	37	chr6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatgattatgtgaacaTctggtgggaccaaattcttt	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	178	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(532-534)aTc>aGc		meprin A, alpha (PABA peptide hydrolase)							301	280	287					6																	46787418		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46787418T>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.533T>G	6.37:g.46787418T>G	ENSP00000230588:p.Ile178Ser						p.I178S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		7	542	+			178			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.533T>G	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734390	0.89482	.	.	ENSG00000112818	ENST00000230588	T	0.72615	-0.67	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93521	0.6861	10	0.87932	D	0	-26.6282	16.1678	0.81782	0.0:0.0:0.0:1.0	.	206;178	B7ZL91;Q16819	.;MEP1A_HUMAN	S	178	ENSP00000230588:I178S	ENSP00000230588:I178S	I	+	2	0	MEP1A	46895377	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	ATC		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		136	691	0	0	0	1	0	136	691					G	46787418	T	G	46787418	3	3	79	1	0	0	0	0	1	0	0	0	9516	1435	50	4	559	4	MEP1A	6	46787418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110341	46787418	124327649	7468	17785											
MEP1A	4224	broad.mit.edu	37	chr6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttgttgggacaatGcacaggtcagtgaaagtgga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	308	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(922-924)tGc>tAc		meprin A, alpha (PABA peptide hydrolase)							142	131	135					6																	46794235		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46794235G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.923G>A	6.37:g.46794235G>A	ENSP00000230588:p.Cys308Tyr						p.C308Y	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		9	932	+			308			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.923G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054545	0.75960	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66168	-0.5991	10	0.87932	D	0	-26.3005	20.2822	0.98520	0.0:0.0:1.0:0.0	.	336;308	B7ZL91;Q16819	.;MEP1A_HUMAN	Y	308	ENSP00000230588:C308Y	ENSP00000230588:C308Y	C	+	2	0	MEP1A	46902194	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	7.554000	0.82212	2.806000	0.96561	0.655000	0.94253	TGC		0.483	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		77	334	0	0	0	1	0	77	334					A	46794235	G	A	46794235	3	1	79	1	0	0	0	0	1	0	0	0	9516	1319	46	2	957	2	MEP1A	6	46794235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	46794235	124320832	7469	17786											
MEP1A	4224	broad.mit.edu	37	chr6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttctacacgggggagCgctgtcaggccgtgcaggtg	15	11	3	0	rs565677690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0					ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2122-2124)Cgc>Tgc		meprin A, alpha (PABA peptide hydrolase)							144	130	135					6																	46806754		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806754C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	6.37:g.46806754C>T	ENSP00000230588:p.Arg708Cys						p.R708C	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2131	+			708			EGF-like.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.2122C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		133	643	0	0	0	1	0	133	643					T	46806754	C	T	46806754	3	4	79	1	0	0	0	0	1	0	0	0	9516	768	27	1	2176	1	MEP1A	6	46806754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12519	46806754	124308313	7470	17787											
GPR116	221395	broad.mit.edu	37	chr6	46827246	46827246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaaggatgacattaacCgtagagagcacgtgctgaaa	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	798					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACATTAACCGTAGAGAGCA	0.393																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2392-2394)acG>acA		G protein-coupled receptor 116							34	34	34					6																	46827246		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46827246C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2394G>A	6.37:g.46827246C>T						GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000265417.7_Silent_p.T798T	p.T798T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	2682	-			798					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2394G>A	CCDS4919.1																																																																																				0.393	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		36	167	0	0	0	1	0	36	167					T	46827246	C	T	46827246	2	4	79	1	0	0	0	0	0	0	0	1	6662	639	23	1		1	GPR116	6	46827246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20492	46827246	124287821	7471	17788											
GPR116	221395	broad.mit.edu	37	chr6	46834846	46834846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcaatactgtatgaattCttatatctaaatatgcagtg	7	5	2	1	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	550	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTATGAATTCTTATATCTAA	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1648-1650)aaG>aaA		G protein-coupled receptor 116							119	117	117					6																	46834846		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46834846C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1650G>A	6.37:g.46834846C>T						GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Silent_p.K550K	p.K550K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		13	1938	-			550			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1650G>A	CCDS4919.1																																																																																				0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		65	339	0	0	0	1	0	65	339					T	46834846	C	T	46834846	2	4	79	1	0	0	0	0	0	0	0	1	6662	912	32	2		2	GPR116	6	46834846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7600	46834846	124280221	7472	17789											
GPR116	221395	broad.mit.edu	37	chr6	46836688	46836688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagatacctcctcgtgGtataaaatctttggtatatt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46836688G>A	ENST00000283296.7	-	12	1841	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	518	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCTCGTGGTATAAAATCT	0.418																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1552-1554)aCc>aTc		G protein-coupled receptor 116							108	108	108					6																	46836688		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836688G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1553C>T	6.37:g.46836688G>A	ENSP00000283296:p.Thr518Ile					GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I	p.T518I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1841	-			518			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1553C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462255	0.12342	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.22134	2.5;2.5;1.97;2.5	5.47	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.729338	0.12712	N	0.445422	T	0.05090	0.0136	L	0.29908	0.895	0.36252	D	0.853988	P;P;P;P	0.49783	0.544;0.72;0.928;0.72	B;B;B;B	0.40066	0.047;0.235;0.318;0.235	T	0.34601	-0.9822	10	0.13108	T	0.6	-8.4634	8.9	0.35487	0.2453:0.0:0.7547:0.0	.	73;518;376;518	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	518;518;518;376;518	ENSP00000283296:T518I;ENSP00000354563:T518I;ENSP00000412866:T376I;ENSP00000265417:T518I	ENSP00000265417:T518I	T	-	2	0	GPR116	46944647	0.669000	0.27502	0.938000	0.37757	0.340000	0.28889	1.419000	0.34793	0.653000	0.30826	0.591000	0.81541	ACC		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		13	421	0	0	0	1	0	13	421					A	46836688	G	A	46836688	3	1	79	1	0	0	0	0	1	0	0	0	6662	1261	44	2	2527	2	GPR116	6	46836688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	46836688	124278379	7473	17790											
GPR116	221395	broad.mit.edu	37	chr6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaactgcaatggtgccCtgggaggaagacgtcacgct	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000265417.7_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	148					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGGTGCCCTGGGAGGAAG	0.493																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(442-444)Ggg>Tgg		G protein-coupled receptor 116							143	124	131					6																	46851895		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851895C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.442G>T	6.37:g.46851895C>A	ENSP00000283296:p.Gly148Trp					GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W	p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		5	730	-			148					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.442G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571997	0.45798	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.30981	1.52;1.91;1.51;1.52	5.17	5.17	0.71159	.	0.367868	0.24549	N	0.037572	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.985;0.995;0.985	T	0.45175	-0.9279	10	0.87932	D	0	-11.1153	14.5188	0.67838	0.0:1.0:0.0:0.0	.	148;148;148	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	W	148	ENSP00000283296:G148W;ENSP00000354563:G148W;ENSP00000412866:G148W;ENSP00000265417:G148W	ENSP00000265417:G148W	G	-	1	0	GPR116	46959854	0.979000	0.34478	0.920000	0.36463	0.148000	0.21650	2.084000	0.41625	2.572000	0.86782	0.655000	0.94253	GGG		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		26	517	1	0	9.86323e-18	1	1.09066e-17	26	517					A	46851895	C	A	46851895	3	1	79	1	0	0	0	0	1	0	0	0	6662	681	24	3	3666	3	GPR116	6	46851895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15207	46851895	124263172	7474	17791											
GPR116	221395	broad.mit.edu	37	chr6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactgatctcaatattaaCagtgtattcttcagccgtag	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000265417.7_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	65					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAATATTAACAGTGTATTCT	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(193-195)Gtt>Att		G protein-coupled receptor 116							139	128	131					6																	46856207		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46856207C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.193G>A	6.37:g.46856207C>T	ENSP00000283296:p.Val65Ile					GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000265417.7_Missense_Mutation_p.V65I	p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		4	481	-			65					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.193G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272212	0.10349	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	1.6;1.99;1.61;1.6	5.66	2.36	0.29203	.	0.224788	0.30311	N	0.009918	T	0.05135	0.0137	N	0.20986	0.625	0.21445	N	0.99968	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.14023	0.002;0.01;0.002	T	0.37126	-0.9719	10	0.16420	T	0.52	-12.8691	4.0781	0.09914	0.0:0.5774:0.1901:0.2325	.	65;65;65	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	65	ENSP00000283296:V65I;ENSP00000354563:V65I;ENSP00000412866:V65I;ENSP00000265417:V65I	ENSP00000265417:V65I	V	-	1	0	GPR116	46964166	0.196000	0.23350	0.196000	0.23383	0.143000	0.21401	0.543000	0.23237	0.821000	0.34540	-0.137000	0.14449	GTT		0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		78	316	0	0	0	1	0	78	316					T	46856207	C	T	46856207	3	4	79	1	0	0	0	0	1	0	0	0	6662	478	17	2	3919	2	GPR116	6	46856207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4312	46856207	124258860	7475	17792											
GPR110	266977	broad.mit.edu	37	chr6	46989795	46989795	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgaaagtgccccaaatctCtgtaggaaataaaaataagt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.e6-1		G protein-coupled receptor 110							48	53	51					6																	46989795		2199	4287	6486	SO:0001630	splice_region_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46989795C>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.452-1G>T	6.37:g.46989795C>A						GPR110_ENST00000449332.2_Splice_Site|GPR110_ENST00000371243.2_Splice_Site		NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			6	667	-								Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	37		CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750104	0.15778	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.743	0.46164	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47097754	1.000000	0.71417	0.886000	0.34754	0.094000	0.18550	3.505000	0.53356	1.527000	0.49086	0.655000	0.94253	.		0.274	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Intron	46	247	1	0	6.21074e-16	1	6.80439e-16	46	247					A	46989795	C	A	46989795	5	1	79	1	0	0	0	0	0	0	1	0	6656	927	32	3	2371	3	GPR110	6	46989795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133588	46989795	124125272	7476	17793											
CD2AP	23607	broad.mit.edu	37	chr6	47471177	47471177	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgacaatttcgttaagGtaagtattttcagttaaatt	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCGTTAAGGTAAGTATTTT	0.318																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e2+1		CD2-associated protein							92	93	93					6																	47471177		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47471177G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.165+1G>A	6.37:g.47471177G>A								NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		2	621	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37		CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389631	0.82902	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9996	0.89195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47579136	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.452000	0.90346	2.245000	0.73994	0.591000	0.81541	.		0.318	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Intron	10	284	0	0	0	1	0	10	284					A	47471177	G	A	47471177	5	1	79	1	0	0	0	0	0	0	1	0	3003	1275	44	2	172	2	CD2AP	6	47471177	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481382	47471177	123643890	7477	17794											
OPN5	221391	broad.mit.edu	37	chr6	47776030	47776030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacttgcaaaatctgcagcGatgtacaatcccatcattta	5	11	2	0	rs200073746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47776030G>A	ENST00000371211.2	+	5	925	c.897G>A	c.(895-897)gcG>gcA	p.A299A	OPN5_ENST00000393699.2_Silent_p.A299A|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Silent_p.A299A	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AATCTGCAGCGATGTACAATC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19694	0.001		0.0	False		,,,				2504	0.0				Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(895-897)gcG>gcA		opsin 5							226	208	214					6																	47776030		2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776030G>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.897G>A	6.37:g.47776030G>A						OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Silent_p.A299A|OPN5_ENST00000393699.2_Silent_p.A299A	p.A299A			Q6U736	OPN5_HUMAN			5	982	+			299					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.897G>A	CCDS4923.1																																																																																				0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		19	708	0	0	0	1	0	19	708					A	47776030	G	A	47776030	2	1	79	1	0	0	0	0	0	0	0	1	10925	1045	37	1		1	OPN5	6	47776030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304853	47776030	123339037	7478	17795											
C6orf138	442213	broad.mit.edu	37	chr6	47846053	47846053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctcatactgtggtgaCgtgatccgggttctcttgaa	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846053C>T	ENST00000339488.4	-	3	2560	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	843						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACTGTGGTGACGTGATCCGGG	0.453																																						ENST00000339488.4																			0											c.(2527-2529)Gtc>Atc		patched domain containing 4							153	156	155					6																	47846053		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846053C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2527G>A	6.37:g.47846053C>T	ENSP00000341914:p.Val843Ile						p.V843I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2560	-			843					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2527G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336091	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.92495	-3.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	N	0.02916	-0.46	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81883	-0.0728	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	843	Q6ZW05	CF138_HUMAN	I	843	ENSP00000341914:V843I	ENSP00000341914:V843I	V	-	1	0	C6orf138	47954012	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	7.175000	0.77632	2.850000	0.98022	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		128	613	0	0	0	1	0	128	613					T	47846053	C	T	47846053	3	4	79	1	0	0	0	0	1	0	0	0	2339	536	19	1	17	1	C6orf138	6	47846053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70023	47846053	123269014	7479	17796											
C6orf138	442213	broad.mit.edu	37	chr6	47846089	47846089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttctatgcattcaaTttcctctctctcctttcgct	3	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846089T>C	ENST00000339488.4	-	3	2524	c.2491A>G	c.(2491-2493)Att>Gtt	p.I831V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	831						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATGCATTCAATTTCCTCTCTC	0.413																																						ENST00000339488.4																			0											c.(2491-2493)Att>Gtt		patched domain containing 4							161	161	161					6																	47846089		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846089T>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2491A>G	6.37:g.47846089T>C	ENSP00000341914:p.Ile831Val						p.I831V	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2524	-			831					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2491A>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723098	0.48728	.	.	ENSG00000244694	ENST00000339488	D	0.91686	-2.89	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	N	0.17082	0.46	0.80722	D	1	P	0.43314	0.803	P	0.58873	0.847	D	0.88434	0.3037	10	0.23302	T	0.38	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	831	Q6ZW05	CF138_HUMAN	V	831	ENSP00000341914:I831V	ENSP00000341914:I831V	I	-	1	0	C6orf138	47954048	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	ATT		0.413	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		23	717	0	0	0	1	0	23	717					C	47846089	T	C	47846089	3	2	79	1	0	0	0	0	1	0	0	0	2339	1493	52	4	53	4	C6orf138	6	47846089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36	47846089	123268978	7480	17797											
MUT	4594	broad.mit.edu	37	chr6	49426795	49426795	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacattaaaatctcacCcttaatgttgtccttataga	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	129					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CD065768	MUT	D		c.e2+1		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63	64	64					6																	49426795		2203	4300	6503	SO:0001630	splice_region_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49426795C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.385+1G>T	6.37:g.49426795C>A							p.A129_splice	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			2	512	-	Lung NSC(77;0.0376)		129					A8K953|Q5SYZ3|Q96B11|Q9UD64	Splice_Site	SNP	ENST00000274813.3	37	c.385_splice	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721302	0.68959	.	.	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.73	4.85	0.62838	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.85859	2.78	0.80722	D	1	P	0.39782	0.688	P	0.57679	0.825	D	0.99053	1.0828	9	.	.	.	-11.523	15.3823	0.74669	0.1403:0.8597:0.0:0.0	.	129	P22033	MUTA_HUMAN	S	129	ENSP00000274813:A129S	.	A	-	1	0	MUT	49534754	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.445000	0.80570	1.509000	0.48786	0.655000	0.94253	GCT		0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		Missense_Mutation	27	200	1	0	9.86323e-18	1	1.09066e-17	27	200					A	49426795	C	A	49426795	5	1	79	1	0	0	0	0	0	0	1	0	10032	637	22	3	1915	3	MUT	6	49426795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1580706	49426795	121688272	7481	17798											
MUT	4594	broad.mit.edu	37	chr6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgttgctggtgtAgaagtcgttgctgtatgagc	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	33					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(97-99)cTa>cCa		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						119	116	117					6																	49427082		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49427082A>G		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.98T>C	6.37:g.49427082A>G	ENSP00000274813:p.Leu33Pro						p.L33P	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			2	225	-	Lung NSC(77;0.0376)		33					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.98T>C	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534520	0.45073	.	.	ENSG00000146085	ENST00000274813	D	0.98264	-4.83	5.38	5.38	0.77491	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.279818	0.29846	N	0.011045	D	0.96358	0.8812	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.98338	1.0537	10	0.54805	T	0.06	-5.9567	14.8593	0.70366	1.0:0.0:0.0:0.0	.	33	P22033	MUTA_HUMAN	P	33	ENSP00000274813:L33P	ENSP00000274813:L33P	L	-	2	0	MUT	49535041	1.000000	0.71417	0.944000	0.38274	0.706000	0.40770	6.361000	0.73070	2.165000	0.68154	0.533000	0.62120	CTA		0.483	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			64	336	0	0	0	1	0	64	336					G	49427082	A	G	49427082	3	3	79	1	0	0	0	0	1	0	0	0	10032	420	15	4	2202	4	MUT	6	49427082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287	49427082	121687985	7482	17799											
CRISP1	167	broad.mit.edu	37	chr6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttgctggctggtggaActactcttctcctgagggcg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(166-168)gTt>gGt		cysteine-rich secretory protein 1							175	162	167					6																	49819742		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819742A>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.167T>G	6.37:g.49819742A>C	ENSP00000338276:p.Val56Gly					CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G	p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	268	-	Lung NSC(77;0.0358)		56					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.167T>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667597	0.29604	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.06	-2.72	0.05968	CAP domain (3);	2.580360	0.01107	N	0.005496	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B;P	0.44521	0.444;0.837	B;B	0.36030	0.086;0.216	T	0.24297	-1.0164	9	.	.	.	.	3.2892	0.06943	0.3582:0.0:0.3343:0.3075	.	56;56	P54107-2;P54107	.;CRIS1_HUMAN	G	56	ENSP00000425020:V56G;ENSP00000338276:V56G;ENSP00000348044:V56G;ENSP00000331317:V56G;ENSP00000427589:V56G;ENSP00000441798:V56G	.	V	-	2	0	CRISP1	49927701	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.585000	0.00423	-0.638000	0.05509	-0.256000	0.11100	GTT		0.378	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		83	349	0	0	0	1	0	83	349					C	49819742	A	C	49819742	3	2	79	1	0	0	0	0	1	0	0	0	3888	43	2	4	606	4	CRISP1	6	49819742	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	392660	49819742	121295325	7483	17800											
TFAP2D	83741	broad.mit.edu	37	chr6	50681795	50681795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actacctttccgggactagtCcacgatgccgaggtattatt	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50681795C>T	ENST00000008391.3	+	1	255	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGACTAGTCCACGATGCCG	0.502																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(25-27)gtC>gtT		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							61	63	62					6																	50681795		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50681795C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.27C>T	6.37:g.50681795C>T							p.V9V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			1	255	+	Lung NSC(77;0.0334)		9						Silent	SNP	ENST00000008391.3	37	c.27C>T	CCDS4933.1																																																																																				0.502	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		74	331	0	0	0	1	0	74	331					T	50681795	C	T	50681795	2	4	79	1	0	0	0	0	0	0	0	1	15842	842	30	2		2	TFAP2D	6	50681795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862053	50681795	120433272	7484	17801											
TFAP2D	83741	broad.mit.edu	37	chr6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaccagcagatccaccacGgggagcccaccgactttatt	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATCCACCACGGGGAGCCCAC	0.622																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(322-324)Ggg>Agg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							111	101	104					6																	50683111		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683111G>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.322G>A	6.37:g.50683111G>A	ENSP00000008391:p.Gly108Arg						p.G108R	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	550	+	Lung NSC(77;0.0334)		108						Missense_Mutation	SNP	ENST00000008391.3	37	c.322G>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020360	0.54576	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.052063	0.85682	D	0.000000	D	0.95723	0.8609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97398	0.9994	10	0.56958	D	0.05	-16.1546	19.1268	0.93388	0.0:0.0:1.0:0.0	.	108	Q7Z6R9	AP2D_HUMAN	R	108	ENSP00000008391:G108R	ENSP00000008391:G108R	G	+	1	0	TFAP2D	50791070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GGG		0.622	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		24	544	0	0	0	1	0	24	544					A	50683111	G	A	50683111	3	1	79	1	0	0	0	0	1	0	0	0	15842	1116	39	1	328	1	TFAP2D	6	50683111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	50683111	120431956	7485	17802											
TFAP2B	7021	broad.mit.edu	37	chr6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgctctggaagcttgtgGagaatgtcaagtacgaagat	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000393655.3	+	1	221	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	18					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGCTTGTGGAGAATGTCAA	0.483																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(52-54)Gag>Aag		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							113	94	100					6																	50786656		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50786656G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.52G>A	6.37:g.50786656G>A	ENSP00000377265:p.Glu18Lys					TFAP2B_ENST00000393655.3_Missense_Mutation_p.E18K	p.E18K			Q92481	AP2B_HUMAN			1	218	+	Lung NSC(77;0.156)		18					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.52G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198890	0.79015	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76839	-1.05;-1.05;-1.05	4.21	4.21	0.49690	.	0.392398	0.26700	N	0.022955	T	0.59074	0.2167	L	0.36672	1.1	0.80722	D	1	B	0.31893	0.345	B	0.26864	0.074	T	0.68318	-0.5440	10	0.72032	D	0.01	-3.8225	16.8977	0.86105	0.0:0.0:1.0:0.0	.	18	Q92481	AP2B_HUMAN	K	18;7;18	ENSP00000377265:E18K;ENSP00000342252:E7K;ENSP00000263046:E18K	ENSP00000263046:E18K	E	+	1	0	TFAP2B	50894615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	2.036000	0.60181	0.561000	0.74099	GAG		0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		35	191	0	0	0	1	0	35	191					A	50786656	G	A	50786656	3	1	79	1	0	0	0	0	1	0	0	0	15840	1175	41	2	54	2	TFAP2B	6	50786656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103545	50786656	120328411	7486	17803											
PKHD1	5314	broad.mit.edu	37	chr6	51491841	51491841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcccttgtgattctcgGcgtttggatgagatgtggat	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.R3913R(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11737-11739)cgC>cgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							286	273	277					6																	51491841		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491841G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11739C>T	6.37:g.51491841G>A							p.R3913R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			66	12014	-	Lung NSC(77;0.0605)		3913		R -> H (in dbSNP:rs2661487).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11739C>T	CCDS4935.1																																																																																				0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		128	620	0	0	0	1	0	128	620					A	51491841	G	A	51491841	2	1	79	1	0	0	0	0	0	0	0	1	12013	1190	42	2		2	PKHD1	6	51491841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	705185	51491841	119623226	7487	17804											
PKHD1	5314	broad.mit.edu	37	chr6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatttacctgaaaattcttCtcggctggacttcctgaagg	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2980					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAATTCTTCTCGGCTGGAC	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8938-8940)Gaa>Taa		polycystic kidney and hepatic disease 1 (autosomal recessive)							84	86	85					6																	51618011		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618011C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8938G>T	6.37:g.51618011C>A	ENSP00000360158:p.Glu2980*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			57	9213	-	Lung NSC(77;0.0605)		2980					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.8938G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	50	16.920727	0.99875	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.97	5.11	0.69529	.	0.389019	0.26855	N	0.022142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.698	0.45909	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2980	.	ENSP00000341097:E2980X	E	-	1	0	PKHD1	51725970	0.060000	0.20803	0.874000	0.34290	0.478000	0.33099	1.984000	0.40658	1.536000	0.49237	0.655000	0.94253	GAA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		71	343	1	0	3.78398e-24	1	4.31794e-24	71	343					A	51618011	C	A	51618011	4	1	79	1	0	0	0	0	0	1	0	0	12013	922	32	3	3369	3	PKHD1	6	51618011	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126170	51618011	119497056	7488	17805											
PKHD1	5314	broad.mit.edu	37	chr6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactgaaggagttcctcaCtgtgcagccctgtatgaaag	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6706-6708)Gtg>Atg		polycystic kidney and hepatic disease 1 (autosomal recessive)							69	69	69					6																	51771115		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51771115C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6706G>A	6.37:g.51771115C>T	ENSP00000360158:p.Val2236Met					PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			41	6981	-	Lung NSC(77;0.0605)		2236					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6706G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675254	0.47781	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92647	-3.08;-3.08	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.89715	0.6795	M	0.77103	2.36	0.09310	N	1	D;P	0.56968	0.978;0.894	P;B	0.53593	0.73;0.437	D	0.83848	0.0261	10	0.51188	T	0.08	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	M	2236	ENSP00000360158:V2236M;ENSP00000341097:V2236M	ENSP00000341097:V2236M	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		68	305	0	0	0	1	0	68	305					T	51771115	C	T	51771115	3	4	79	1	0	0	0	0	1	0	0	0	12013	565	20	2	5665	2	PKHD1	6	51771115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153104	51771115	119343952	7489	17806											
PKHD1	5314	broad.mit.edu	37	chr6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatggtggcccagagcCctcctgtaacaaaaacagca	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1034	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCAGAGCCCTCCTGTAAC	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3100-3102)gGg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							72	73	72					6																	51900516		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900516C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3101G>T	6.37:g.51900516C>A	ENSP00000360158:p.Gly1034Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			28	3376	-	Lung NSC(77;0.0605)		1034			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3101G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173670	0.78452	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-2.14;-2.14	5.57	5.57	0.84162	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.157646	0.44483	D	0.000441	D	0.91392	0.7284	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91938	0.5560	10	0.72032	D	0.01	.	16.6945	0.85332	0.0:1.0:0.0:0.0	.	1034;1034	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1034	ENSP00000360158:G1034V;ENSP00000341097:G1034V	ENSP00000341097:G1034V	G	-	2	0	PKHD1	52008475	0.998000	0.40836	0.976000	0.42696	0.997000	0.91878	4.845000	0.62853	2.631000	0.89168	0.650000	0.86243	GGG		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		57	230	1	0	3.76997e-23	1	4.28119e-23	57	230					A	51900516	C	A	51900516	3	1	79	1	0	0	0	0	1	0	0	0	12013	623	22	3	9322	3	PKHD1	6	51900516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129401	51900516	119214551	7490	17807											
PKHD1	5314	broad.mit.edu	37	chr6	51918850	51918850	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctacctctcggggctggtCctcgtgagactccagtcaca	11	14	2	1	rs143226202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51918850C>T	ENST00000371117.3	-	20	2225	c.1950G>A	c.(1948-1950)agG>agA	p.R650R	PKHD1_ENST00000340994.4_Silent_p.R650R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	650					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGGGGCTGGTCCTCGTGAGAC	0.512													C|||	5	0.000998403	0.0008	0.0	5008	,	,		18328	0.0		0.003	False		,,,				2504	0.001					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1948-1950)agG>agA		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	,	2,4404	4.2+/-10.8	0,2,2201	102	84	90		1950,1950	-2.2	0	6	dbSNP_134	90	20,8580	14.0+/-48.4	0,20,4280	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,22,6481	TT,TC,CC		0.2326,0.0454,0.1692	,	650/4075,650/3397	51918850	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918850C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1950G>A	6.37:g.51918850C>T						PKHD1_ENST00000340994.4_Silent_p.R650R	p.R650R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			20	2225	-	Lung NSC(77;0.0605)		650					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1950G>A	CCDS4935.1																																																																																				0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	199	0	0	0	1	0	5	199					T	51918850	C	T	51918850	2	4	79	1	0	0	0	0	0	0	0	1	12013	854	30	2		2	PKHD1	6	51918850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18334	51918850	119196217	7491	17808											
PKHD1	5314	broad.mit.edu	37	chr6	51944773	51944773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagtatgcttccaggaaGtacagaccctcatgtgcttc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51944773G>A	ENST00000371117.3	-	5	590	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKHD1_ENST00000340994.4_Silent_p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	105	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCCAGGAAGTACAGACCCT	0.483																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(313-315)taC>taT		polycystic kidney and hepatic disease 1 (autosomal recessive)							171	151	158					6																	51944773		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944773G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.315C>T	6.37:g.51944773G>A						PKHD1_ENST00000340994.4_Silent_p.Y105Y	p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	590	-	Lung NSC(77;0.0605)		105			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.315C>T	CCDS4935.1																																																																																				0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	593	0	0	0	1	0	21	593					A	51944773	G	A	51944773	2	1	79	1	0	0	0	0	0	0	0	1	12013	1024	36	2		2	PKHD1	6	51944773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25923	51944773	119170294	7492	17809											
MCM3	4172	broad.mit.edu	37	chr6	52132686	52132686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttctgctcctggtcCtcttggcttttctcctcttc	5	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52132686C>A	ENST00000229854.7	-	14	2125	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D	MCM3_ENST00000419835.2_Missense_Mutation_p.E637D|MCM3_ENST00000596288.1_Missense_Mutation_p.E728D			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	683					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					gctcctggtcctcttggcttt	0.468																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(2182-2184)gaG>gaT		minichromosome maintenance complex component 3							325	243	271					6																	52132686		2201	4300	6501	SO:0001583	missense	4172				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52132686C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2049G>T	6.37:g.52132686C>A	ENSP00000229854:p.Glu683Asp					MCM3_ENST00000419835.2_Missense_Mutation_p.E637D|MCM3_ENST00000229854.7_Missense_Mutation_p.E683D	p.E728D	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			14	2211	-	Lung NSC(77;0.0931)		683					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.2184G>T		.	.	.	.	.	.	.	.	.	.	C	11.49	1.654578	0.29425	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.61742	0.08;0.08;0.08	4.59	2.79	0.32731	.	1.165220	0.06123	N	0.669208	T	0.15565	0.0375	N	0.11427	0.14	0.31581	N	0.655164	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08889	-1.0700	10	0.13470	T	0.59	-11.1109	7.6055	0.28100	0.0:0.8059:0.0:0.1941	.	637;683	B4DUQ9;P25205	.;MCM3_HUMAN	D	683;180;637;178	ENSP00000229854:E683D;ENSP00000388647:E637D;ENSP00000407651:E178D	ENSP00000229854:E683D	E	-	3	2	MCM3	52240645	0.996000	0.38824	0.997000	0.53966	0.778000	0.44026	0.508000	0.22692	0.846000	0.35142	0.655000	0.94253	GAG		0.468	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			7	75	1	0	2.7689e-08	1	2.89045e-08	7	75					A	52132686	C	A	52132686	3	1	79	1	0	0	0	0	1	0	0	0	9428	680	24	3	393	3	MCM3	6	52132686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187913	52132686	118982381	7493	17810											
MCM3	4172	broad.mit.edu	37	chr6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcagcgggcattcagcCgagcatggatgccagccttg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000229854.7	-	9	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.R486Q			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	441	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCATTCAGCCGAGCATGGAT	0.517																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1456-1458)cGg>cAg		minichromosome maintenance complex component 3							76	57	64					6																	52141118		2203	4300	6503	SO:0001583	missense	4172				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141118C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1322G>A	6.37:g.52141118C>T	ENSP00000229854:p.Arg441Gln					MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000229854.7_Missense_Mutation_p.R441Q	p.R486Q	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			9	1484	-	Lung NSC(77;0.0931)		441			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1457G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025812	0.75390	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	L	0.28740	0.885	0.80722	D	1	B;B	0.31655	0.334;0.211	B;B	0.28011	0.085;0.059	T	0.40117	-0.9580	10	0.66056	D	0.02	-13.7045	13.109	0.59263	0.0:0.9233:0.0:0.0767	.	395;441	B4DUQ9;P25205	.;MCM3_HUMAN	Q	441;395	ENSP00000229854:R441Q;ENSP00000388647:R395Q	ENSP00000229854:R441Q	R	-	2	0	MCM3	52249077	1.000000	0.71417	0.819000	0.32651	0.954000	0.61252	5.896000	0.69822	2.669000	0.90835	0.655000	0.94253	CGG		0.517	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			9	125	0	0	0	1	0	9	125					T	52141118	C	T	52141118	3	4	79	1	0	0	0	0	1	0	0	0	9428	652	23	1	1140	1	MCM3	6	52141118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8432	52141118	118973949	7494	17811											
MCM3	4172	broad.mit.edu	37	chr6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtagaactcctcatactgCttggcataggtagcatcaat	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000229854.7	-	3	355	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000596288.1_Missense_Mutation_p.K138N			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	93					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCATACTGCTTGGCATAGG	0.532																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(412-414)aaG>aaT		minichromosome maintenance complex component 3							89	89	89					6																	52147572		2203	4300	6503	SO:0001583	missense	4172				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52147572C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.279G>T	6.37:g.52147572C>A	ENSP00000229854:p.Lys93Asn					MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000229854.7_Missense_Mutation_p.K93N	p.K138N	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			3	441	-	Lung NSC(77;0.0931)		93					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.414G>T		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555099	0.65425	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11821	2.74;4.17	5.59	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.87682	2.9	0.80722	D	1	B;B	0.31989	0.35;0.224	B;B	0.34301	0.179;0.179	T	0.01440	-1.1354	10	0.42905	T	0.14	-27.4225	14.3189	0.66470	0.0:0.9287:0.0:0.0713	.	47;93	B4DUQ9;P25205	.;MCM3_HUMAN	N	93;47	ENSP00000229854:K93N;ENSP00000388647:K47N	ENSP00000229854:K93N	K	-	3	2	MCM3	52255531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.366000	0.46076	0.655000	0.94253	AAG		0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			46	250	1	0	3.21987e-24	1	3.67739e-24	46	250					A	52147572	C	A	52147572	3	1	79	1	0	0	0	0	1	0	0	0	9428	796	28	3	2207	3	MCM3	6	52147572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6454	52147572	118967495	7495	17812											
MCM3	4172	broad.mit.edu	37	chr6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactgatcagctcccgaActttgctctgataaattccc	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000229854.7	-	2	183	c.107T>C	c.(106-108)gTt>gCt	p.V36A	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000596288.1_Missense_Mutation_p.V81A			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	36					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGCTCCCGAACTTTGCTCTG	0.453																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(241-243)gTt>gCt		minichromosome maintenance complex component 3							204	176	185					6																	52148176		2203	4300	6503	SO:0001583	missense	4172				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148176A>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.107T>C	6.37:g.52148176A>G	ENSP00000229854:p.Val36Ala					MCM3_ENST00000419835.2_Intron|MCM3_ENST00000229854.7_Missense_Mutation_p.V36A	p.V81A	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	269	-	Lung NSC(77;0.0931)		36					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.242T>C		.	.	.	.	.	.	.	.	.	.	A	28.3	4.904051	0.92035	.	.	ENSG00000112118	ENST00000229854	T	0.11821	2.74	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.122293	0.56097	D	0.000038	T	0.20577	0.0495	M	0.88570	2.965	0.80722	D	1	P	0.45474	0.859	P	0.46208	0.507	T	0.08432	-1.0722	10	0.72032	D	0.01	-10.427	14.6754	0.68975	1.0:0.0:0.0:0.0	.	36	P25205	MCM3_HUMAN	A	36	ENSP00000229854:V36A	ENSP00000229854:V36A	V	-	2	0	MCM3	52256135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.051000	0.60960	0.533000	0.62120	GTT		0.453	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			76	396	0	0	0	1	0	76	396					G	52148176	A	G	52148176	3	3	79	1	0	0	0	0	1	0	0	0	9428	43	2	4	2383	4	MCM3	6	52148176	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	604	52148176	118966891	7496	17813											
PAQR8	85315	broad.mit.edu	37	chr6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaccgccatcttggagcGcctgagcaccctgtcggtca	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622																																						ENST00000442253.2																			1	Substitution - Missense(1)	p.R8H(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(22-24)cGc>cAc		progestin and adipoQ receptor family member VIII							27	26	27					6																	52268034		2202	4298	6500	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268034G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.23G>A	6.37:g.52268034G>A	ENSP00000406197:p.Arg8His					PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	197	+	Lung NSC(77;0.0875)		8					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.23G>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	PAQR8	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC		0.622	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		31	130	0	0	0	1	0	31	130					A	52268034	G	A	52268034	3	1	79	1	0	0	0	0	1	0	0	0	11483	1087	38	1	25	1	PAQR8	6	52268034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119858	52268034	118847033	7497	17814											
PAQR8	85315	broad.mit.edu	37	chr6	52268422	52268422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagtccaagtcagaGctctcccactacaccttcta	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	137					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(409-411)gaG>gaA		progestin and adipoQ receptor family member VIII							161	137	145					6																	52268422		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268422G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.411G>A	6.37:g.52268422G>A						PAQR8_ENST00000360726.3_Silent_p.E137E	p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	585	+	Lung NSC(77;0.0875)		137					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.411G>A	CCDS4941.1																																																																																				0.542	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		128	477	0	0	0	1	0	128	477					A	52268422	G	A	52268422	2	1	79	1	0	0	0	0	0	0	0	1	11483	962	34	2		2	PAQR8	6	52268422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	52268422	118846645	7498	17815											
PAQR8	85315	broad.mit.edu	37	chr6	52268953	52268953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatcttcctgcagcgCcatggacccctatctgtcca	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	314					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(940-942)cgC>cgT		progestin and adipoQ receptor family member VIII							48	46	46					6																	52268953		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268953C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.942C>T	6.37:g.52268953C>T						PAQR8_ENST00000360726.3_Silent_p.R314R	p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1116	+	Lung NSC(77;0.0875)		314					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.942C>T	CCDS4941.1																																																																																				0.597	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		27	156	0	0	0	1	0	27	156					T	52268953	C	T	52268953	2	4	79	1	0	0	0	0	0	0	0	1	11483	726	26	2		2	PAQR8	6	52268953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	52268953	118846114	7499	17816											
EFHC1	114327	broad.mit.edu	37	chr6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttccacagaagtcagaCgctgagctacaggaacggct	11	12	1	3	rs200435907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	30						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGTCAGACGCTGAGCTAC	0.423																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(88-90)aCg>aTg		EF-hand domain (C-terminal) containing 1		C	MET/THR,MET/THR	0,4406		0,0,2203	79	77	78		32,89	6	1	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	11/622,30/641	52288769	1,13005	2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288769C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.89C>T	6.37:g.52288769C>T	ENSP00000360107:p.Thr30Met					EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000433625.2_5'UTR	p.T30M	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	192	+	Lung NSC(77;0.109)		30					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.89C>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976744	0.74360	0.0	1.16E-4	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.68624	-0.16;-0.34	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78432	-0.2206	10	0.37606	T	0.19	-7.9389	20.4581	0.99154	0.0:1.0:0.0:0.0	.	11;30	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	M	30;11	ENSP00000360107:T30M;ENSP00000444521:T11M	ENSP00000360107:T30M	T	+	2	0	EFHC1	52396728	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	6.840000	0.75369	2.835000	0.97688	0.650000	0.86243	ACG		0.423	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		92	365	0	0	0	1	0	92	365					T	52288769	C	T	52288769	3	4	79	1	0	0	0	0	1	0	0	0	4962	536	19	1	105	1	EFHC1	6	52288769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19816	52288769	118826298	7500	17817											
EFHC1	114327	broad.mit.edu	37	chr6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacaaagaccgcagaTttgtcttctcttactttcta	6	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I|EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	438	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCGCAGATTTGTCTTCTC	0.438																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1312-1314)Ttt>Att		EF-hand domain (C-terminal) containing 1							107	103	105					6																	52343868		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52343868T>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1312T>A	6.37:g.52343868T>A	ENSP00000360107:p.Phe438Ile					EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	p.F438I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			8	1415	+	Lung NSC(77;0.109)		438			DM10 3.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.1312T>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514557	0.85389	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	D;D;D	0.85629	-1.79;-1.98;-2.01	5.89	5.89	0.94794	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.91406	3.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.94628	0.7819	10	0.87932	D	0	-4.1261	16.3071	0.82852	0.0:0.0:0.0:1.0	.	419;347;438	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	I	438;347;419	ENSP00000360107:F438I;ENSP00000416492:F347I;ENSP00000444521:F419I	ENSP00000360107:F438I	F	+	1	0	EFHC1	52451827	1.000000	0.71417	0.905000	0.35620	0.391000	0.30476	7.794000	0.85869	2.250000	0.74265	0.477000	0.44152	TTT		0.438	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		19	475	0	0	0	1	0	19	475					A	52343868	T	A	52343868	3	1	79	1	0	0	0	0	1	0	0	0	4962	1493	52	5	1352	5	EFHC1	6	52343868	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55099	52343868	118771199	7501	17818											
EFHC1	114327	broad.mit.edu	37	chr6	52354937	52354937	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttccttcctttctctacaGcaagcaaactgaaaaggatc	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000433625.2_Splice_Site|EFHC1_ENST00000538167.1_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1							axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTCTCTACAGCAAGCAAACT	0.403																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.e10-1		EF-hand domain (C-terminal) containing 1							71	63	65					6																	52354937		2203	4300	6503	SO:0001630	splice_region_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52354937G>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1641-1G>T	6.37:g.52354937G>T						EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site		NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			10	1743	+	Lung NSC(77;0.109)							B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Splice_Site	SNP	ENST00000371068.5	37		CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692250	0.68271	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFHC1	52462896	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	4.760000	0.62235	2.833000	0.97629	0.650000	0.86243	.		0.403	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	Intron	31	176	1	0	7.68411e-24	1	8.75532e-24	31	176					T	52354937	G	T	52354937	5	4	79	1	0	0	0	0	0	0	1	0	4962	985	34	3	1688	3	EFHC1	6	52354937	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11069	52354937	118760130	7502	17819											
GSTA2	2939	broad.mit.edu	37	chr6	52617718	52617718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaagcttggcatcttgTtcctcaggttgactaaaggg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	116	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(346-348)gaA>gaG		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						233	222	226					6																	52617718		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52617718T>C	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.348A>G	6.37:g.52617718T>C							p.E116E	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			5	503	-	Lung NSC(77;0.118)		116			GST C-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.348A>G	CCDS4944.1																																																																																				0.398	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		54	1206	0	0	0	1	0	54	1206					C	52617718	T	C	52617718	2	2	79	1	0	0	0	0	0	0	0	1	6861	1722	60	4		4	GSTA2	6	52617718	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262781	52617718	118497349	7503	17820											
GSTA2	2939	broad.mit.edu	37	chr6	52622688	52622688	+	Missense_Mutation	SNP	G	G	A													agctgcagccaggagccaccGgatggactccattctgcccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	ENST00000493422.1	-	2	213	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	20	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(58-60)Cgg>Tgg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						114	109	110					6																	52622688		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622688G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.58C>T	6.37:g.52622688G>A	ENSP00000420168:p.Arg20Trp						p.R20W	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			2	213	-	Lung NSC(77;0.118)		20			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.58C>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527229	0.44969	.	.	ENSG00000244067	ENST00000493422	T	0.13196	2.61	2.81	2.81	0.32909	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	H	0.99777	4.77	0.49582	D	0.999809	D	0.89917	1.0	D	0.97110	1.0	T	0.73059	-0.4102	10	0.87932	D	0	.	12.7101	0.57083	0.0:0.0:1.0:0.0	.	20	P09210	GSTA2_HUMAN	W	20	ENSP00000420168:R20W	ENSP00000420168:R20W	R	-	1	2	GSTA2	52730647	1.000000	0.71417	0.958000	0.39756	0.329000	0.28539	3.367000	0.52350	1.317000	0.45149	0.184000	0.17185	CGG		0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		29	413	0	0	0	1	0	29	413					A	52622688	G	A	52622688	3	1	79	1	0	0	0	0	1	0	0	0	6861	1115	39	1	634	1	GSTA2	6	52622688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4970	52622688	118492379	7504	17821	109	2									
GSTA2	2939	broad.mit.edu	37	chr6	52622689	52622689	+	Silent	SNP	G	G	A													gctgcagccaggagccaccgGatggactccattctgccccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	ENST00000493422.1	-	2	212	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	19	GST N-terminal.			I -> T (in Ref. 6; AA sequence). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(55-57)atC>atT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						115	110	112					6																	52622689		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622689G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.57C>T	6.37:g.52622689G>A							p.I19I	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			2	212	-	Lung NSC(77;0.118)		19	I -> T (in Ref. 6; AA sequence).		GST N-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.57C>T	CCDS4944.1																																																																																				0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		76	364	0	0	0	1	0	76	364					A	52622689	G	A	52622689	2	1	79	1	0	0	0	0	0	0	0	1	6861	1164	41	2		2	GSTA2	6	52622689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52622689	118492378	7505	17822	109	2									
GSTA5	221357	broad.mit.edu	37	chr6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctggttgacatatgaGcagaagaaggatcatttcag	10	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	110	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(328-330)Ctc>Atc		glutathione S-transferase alpha 5	Glutathione(DB00143)						201	192	195					6																	52699025		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699025G>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.328C>A	6.37:g.52699025G>T	ENSP00000360028:p.Leu110Ile					GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I	p.L110I			Q7RTV2	GSTA5_HUMAN			5	486	-	Lung NSC(77;0.0912)		110			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.328C>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	6.796	0.515794	0.12944	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.58	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065164	0.64402	D	0.000009	T	0.00241	0.0007	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.52906	T	0.07	.	3.5426	0.07816	0.2105:0.0:0.4597:0.3298	.	110	Q7RTV2	GSTA5_HUMAN	I	110	ENSP00000360028:L110I;ENSP00000284562:L110I	ENSP00000284562:L110I	L	-	1	0	GSTA5	52806984	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.157000	0.10085	-0.900000	0.03896	-1.296000	0.01341	CTC		0.383	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		146	677	1	0	8.19216e-75	1	1.04411e-74	146	677					T	52699025	G	T	52699025	3	4	79	1	0	0	0	0	1	0	0	0	6864	971	34	3	352	3	GSTA5	6	52699025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76336	52699025	118416042	7506	17823											
GSTA5	221357	broad.mit.edu	37	chr6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcaccagcttcatccCgtcaatctcaaccattggta	7	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	62	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(184-186)Ggg>Agg		glutathione S-transferase alpha 5	Glutathione(DB00143)						131	130	130					6																	52701122		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701122C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.184G>A	6.37:g.52701122C>T	ENSP00000360028:p.Gly62Arg					GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R	p.G62R			Q7RTV2	GSTA5_HUMAN			4	342	-	Lung NSC(77;0.0912)		62			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.184G>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518049	0.64634	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.20069	2.1;2.1	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	H	0.98769	4.325	0.54753	D	0.999989	P	0.48294	0.908	P	0.52031	0.688	T	0.67639	-0.5619	10	0.66056	D	0.02	.	13.2149	0.59854	0.0:1.0:0.0:0.0	.	62	Q7RTV2	GSTA5_HUMAN	R	62	ENSP00000360028:G62R;ENSP00000284562:G62R	ENSP00000284562:G62R	G	-	1	0	GSTA5	52809081	1.000000	0.71417	0.993000	0.49108	0.688000	0.40055	5.269000	0.65542	1.456000	0.47831	0.205000	0.17691	GGG		0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		155	731	0	0	0	1	0	155	731					T	52701122	C	T	52701122	3	4	79	1	0	0	0	0	1	0	0	0	6864	652	23	1	500	1	GSTA5	6	52701122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2097	52701122	118413945	7507	17824											
GSTA3	2940	broad.mit.edu	37	chr6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactccagctgcagccaagAgccaccggatgggctccatt	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	22	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(64-66)cTc>cGc		glutathione S-transferase alpha 3	Glutathione(DB00143)						90	83	85					6																	52770568		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52770568A>C	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.65T>G	6.37:g.52770568A>C	ENSP00000211122:p.Leu22Arg					GSTA3_ENST00000370968.1_Intron	p.L22R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			2	130	-	Lung NSC(77;0.0912)		22			GST N-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.65T>G	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790438	0.70337	.	.	ENSG00000174156	ENST00000211122	T	0.12039	2.72	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	H	0.99726	4.73	0.48452	D	0.999655	D	0.89917	1.0	D	0.80764	0.994	T	0.70702	-0.4799	10	0.87932	D	0	.	12.0972	0.53761	1.0:0.0:0.0:0.0	.	22	Q16772	GSTA3_HUMAN	R	22	ENSP00000211122:L22R	ENSP00000211122:L22R	L	-	2	0	GSTA3	52878527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.688000	0.51068	0.533000	0.62120	CTC		0.448	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			56	238	0	0	0	1	0	56	238					C	52770568	A	C	52770568	3	2	79	1	0	0	0	0	1	0	0	0	6862	304	11	4	627	4	GSTA3	6	52770568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69446	52770568	118344499	7508	17825											
GSTA4	2941	broad.mit.edu	37	chr6	52847504	52847504	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccgtgaccccttaaaatCtgtagggaaatggtgtgcat	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000370959.1	-	6	532		c.e6-1		GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408																																						ENST00000541324.1																			0				endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.e4-1		glutathione S-transferase alpha 4	Glutathione(DB00143)						96	87	90					6																	52847504		2203	4300	6503	SO:0001630	splice_region_variant	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52847504C>T	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.415-1G>A	6.37:g.52847504C>T						GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370959.1_Splice_Site				O15217	GSTA4_HUMAN			4	401	-	Lung NSC(77;0.103)							B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Splice_Site	SNP	ENST00000370959.1	37		CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878857	0.33162	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSTA4	52955463	1.000000	0.71417	0.989000	0.46669	0.113000	0.19764	5.009000	0.63998	2.906000	0.99361	0.655000	0.94253	.		0.408	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512	Intron	29	344	0	0	0	1	0	29	344					T	52847504	C	T	52847504	5	4	79	1	0	0	0	0	0	0	1	0	6863	927	32	2	262	2	GSTA4	6	52847504	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76936	52847504	118267563	7509	17826											
ICK	22858	broad.mit.edu	37	chr6	52895864	52895864	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactccgaatcacctaccGtgtttgtgaataaatgcgag	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000350082.5	-	5	703	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000356971.3_Splice_Site_p.H119H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.			H -> L (in Ref. 1; AAF37278). {ECO:0000305}.	intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATCACCTACCGTGTTTGTGAA	0.368																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e6+1		intestinal cell (MAK-like) kinase							98	84	89					6																	52895864		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52895864G>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.358+1C>T	6.37:g.52895864G>A						ICK_ENST00000350082.5_Splice_Site_p.H119_splice	p.H119_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			6	846	-	Lung NSC(77;0.103)		119	H -> L (in Ref. 1; AAF37278).		Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	SNP	ENST00000350082.5	37	c.358_splice	CCDS4949.1																																																																																				0.368	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Silent	58	233	0	0	0	1	0	58	233					A	52895864	G	A	52895864	5	1	79	1	0	0	0	0	0	0	1	0	7514	1159	40	1	1581	1	ICK	6	52895864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48360	52895864	118219203	7510	17827											
GCM1	8521	broad.mit.edu	37	chr6	52995599	52995599	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatacataatgaaggattAccctggtctctgtgctcccc	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)						anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.e5+1		glial cells missing homolog 1 (Drosophila)							275	225	242					6																	52995599		2203	4300	6503	SO:0001630	splice_region_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52995599A>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.570+1T>C	6.37:g.52995599A>G								NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			5	782	-	Lung NSC(77;0.0755)							Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Splice_Site	SNP	ENST00000259803.7	37		CCDS4950.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912420	0.33721	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1342	0.81471	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCM1	53103558	1.000000	0.71417	0.979000	0.43373	0.016000	0.09150	3.656000	0.54467	2.209000	0.71365	0.533000	0.62120	.		0.512	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		Intron	63	288	0	0	0	1	0	63	288					G	52995599	A	G	52995599	5	3	79	1	0	0	0	0	0	0	1	0	6325	405	14	4	746	4	GCM1	6	52995599	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99735	52995599	118119468	7511	17828											
GCM1	8521	broad.mit.edu	37	chr6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcactttcttcatggctcttCttgcctcagcttctaacttg	5	13	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	166					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(496-498)aGa>aTa		glial cells missing homolog 1 (Drosophila)							433	331	365					6																	52995674		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52995674C>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.497G>T	6.37:g.52995674C>A	ENSP00000259803:p.Arg166Ile						p.R166I	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			5	708	-	Lung NSC(77;0.0755)		166					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.497G>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236308	0.79800	.	.	ENSG00000137270	ENST00000259803	T	0.77229	-1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86844	0.2019	10	0.87932	D	0	-5.1915	20.4238	0.99064	0.0:1.0:0.0:0.0	.	166	Q9NP62	GCM1_HUMAN	I	166	ENSP00000259803:R166I	ENSP00000259803:R166I	R	-	2	0	GCM1	53103633	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	6.685000	0.74543	2.834000	0.97654	0.650000	0.86243	AGA		0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			97	449	1	0	1.14904e-54	1	1.4347e-54	97	449					A	52995674	C	A	52995674	3	1	79	1	0	0	0	0	1	0	0	0	6325	913	32	3	821	3	GCM1	6	52995674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	52995674	118119393	7512	17829											
GCM1	8521	broad.mit.edu	37	chr6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaatatctctttgtcttcaGaatcaaagtcgtcaggttcc	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	8					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(22-24)tCt>tAt		glial cells missing homolog 1 (Drosophila)							132	125	127					6																	53010408		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:53010408G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.23C>A	6.37:g.53010408G>T	ENSP00000259803:p.Ser8Tyr						p.S8Y	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			2	234	-	Lung NSC(77;0.0755)		8					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.23C>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034932	0.35893	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.21	4.32	0.51571	.	0.394862	0.24115	N	0.041401	T	0.62405	0.2425	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58515	-0.7623	10	0.62326	D	0.03	-6.206	7.9103	0.29787	0.0811:0.0:0.7584:0.1605	.	8	Q9NP62	GCM1_HUMAN	Y	8	ENSP00000259803:S8Y	ENSP00000259803:S8Y	S	-	2	0	GCM1	53118367	0.443000	0.25641	0.376000	0.26042	0.789000	0.44602	2.207000	0.42788	1.138000	0.42230	0.655000	0.94253	TCT		0.413	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			107	434	1	0	2.15005e-58	1	2.69688e-58	107	434					T	53010408	G	T	53010408	3	4	79	1	0	0	0	0	1	0	0	0	6325	942	33	3	1307	3	GCM1	6	53010408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14734	53010408	118104659	7513	17830											
GCLC	2729	broad.mit.edu	37	chr6	53370601	53370601	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgcatgtgtcttacCtccatgggtcgaaattctac	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	430					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TGTGTCTTACCTCCATGGGTC	0.423																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e11+1		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						134	120	125					6																	53370601		2203	4300	6503	SO:0001630	splice_region_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370601C>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1290+1G>T	6.37:g.53370601C>A						RP1-27K12.4_ENST00000508884.1_RNA	p.E430_splice	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			11	1773	-	Lung NSC(77;0.0137)		430					Q14399	Splice_Site	SNP	ENST00000229416.6	37	c.1290_splice	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088170|4.088170	0.76642|0.76642	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416|ENST00000514373	T|.	0.51325|.	0.71|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66247|0.66247	0.2770|0.2770	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B|.	0.31503|.	0.326|.	B|.	0.32211|.	0.142|.	T|T	0.60929|0.60929	-0.7165|-0.7165	9|5	.|.	.|.	.|.	.|.	20.0627|20.0627	0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430|.	P48506|.	GSH1_HUMAN|.	D|M	430|32	ENSP00000229416:E430D|.	.|.	E|R	-|-	3|2	2|0	GCLC|GCLC	53478560|53478560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.776000|7.776000	0.85560|0.85560	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.423	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		Missense_Mutation	14	370	1	0	2.32078e-09	1	2.442e-09	14	370					A	53370601	C	A	53370601	5	1	79	1	0	0	0	0	0	0	1	0	6323	695	24	3	647	3	GCLC	6	53370601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360193	53370601	117744466	7514	17831											
KLHL31	401265	broad.mit.edu	37	chr6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcaactgtaagtcatcatCtataagaagttcattaattt	6	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000407079.1	-	1	663	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	222	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(664-666)Gat>Tat		kelch-like family member 31							79	79	79					6																	53519407		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519407C>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.664G>T	6.37:g.53519407C>A	ENSP00000384644:p.Asp222Tyr					KLHL31_ENST00000407079.1_Missense_Mutation_p.D222Y	p.D222Y	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	804	-	Lung NSC(77;0.0158)		222			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.664G>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70282	-0.47;-0.47	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83293	-0.0032	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	222	Q9H511	KLH31_HUMAN	Y	222	ENSP00000359942:D222Y;ENSP00000384644:D222Y	ENSP00000359942:D222Y	D	-	1	0	KLHL31	53627366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT		0.348	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		77	324	1	0	7.31121e-38	1	8.79105e-38	77	324					A	53519407	C	A	53519407	3	1	79	1	0	0	0	0	1	0	0	0	8415	913	32	3	1248	3	KLHL31	6	53519407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148806	53519407	117595660	7515	17832											
KLHL31	401265	broad.mit.edu	37	chr6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatattaacaacatacAtgcaattctcaacactcatc	2	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000407079.1	-	1	517	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T			Q9H511	KLH31_HUMAN	kelch-like family member 31	173	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(517-519)aTg>aCg		kelch-like family member 31							76	79	78					6																	53519553		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519553A>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.518T>C	6.37:g.53519553A>G	ENSP00000384644:p.Met173Thr					KLHL31_ENST00000407079.1_Missense_Mutation_p.M173T	p.M173T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	658	-	Lung NSC(77;0.0158)		173			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.518T>C	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590830	0.28357	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68624	-0.34;-0.34	6.03	4.87	0.63330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.53688	D	0.999978	B	0.18461	0.028	B	0.18263	0.021	T	0.52711	-0.8539	10	0.62326	D	0.03	.	12.1727	0.54167	0.9336:0.0:0.0664:0.0	.	173	Q9H511	KLH31_HUMAN	T	173	ENSP00000359942:M173T;ENSP00000384644:M173T	ENSP00000359942:M173T	M	-	2	0	KLHL31	53627512	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.522000	0.81844	1.100000	0.41517	0.454000	0.30748	ATG		0.368	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		81	318	0	0	0	1	0	81	318					G	53519553	A	G	53519553	3	3	79	1	0	0	0	0	1	0	0	0	8415	217	8	4	1394	4	KLHL31	6	53519553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146	53519553	117595514	7516	17833											
C6orf142	90523	broad.mit.edu	37	chr6	53989480	53989480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagatgaggctgcaagCagaaaagttgaacaaggccc	15	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53989480C>T	ENST00000274897.5	+	3	542	c.429C>T	c.(427-429)agC>agT	p.S143S	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.S91S|MLIP_ENST00000514921.1_Silent_p.S143S|MLIP_ENST00000502396.1_Silent_p.S154S|MLIP_ENST00000370876.2_Silent_p.S81S|MLIP_ENST00000358276.5_Silent_p.S137S|MLIP_ENST00000509997.1_Silent_p.S91S	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	143						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCTGCAAGCAGAAAAGTTG	0.517																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(427-429)agC>agT		muscular LMNA-interacting protein							89	89	89					6																	53989480		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989480C>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.429C>T	6.37:g.53989480C>T						MLIP_ENST00000274897.5_Silent_p.S143S|MLIP_ENST00000509997.1_Silent_p.S91S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.S154S|MLIP_ENST00000370877.2_Silent_p.S91S|MLIP_ENST00000370876.2_Silent_p.S81S|MLIP_ENST00000358276.5_Silent_p.S137S	p.S143S			Q5VWP3	MLIP_HUMAN			3	542	+			143					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.429C>T	CCDS4954.1																																																																																				0.517	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		89	471	0	0	0	1	0	89	471					T	53989480	C	T	53989480	2	4	79	1	0	0	0	0	0	0	0	1	2340	709	25	2		2	C6orf142	6	53989480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469927	53989480	117125587	7517	17834											
C6orf142	90523	broad.mit.edu	37	chr6	54066908	54066908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttacattcatgaagactaaGcctggagtaattcgcccagt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54066908G>T	ENST00000274897.5	+	10	1103	c.990G>T	c.(988-990)aaG>aaT	p.K330N	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.K226N|MLIP_ENST00000514921.1_Missense_Mutation_p.K854N|MLIP_ENST00000502396.1_Missense_Mutation_p.K865N|MLIP_ENST00000370876.2_Missense_Mutation_p.K174N|MLIP_ENST00000358276.5_Missense_Mutation_p.K230N|MLIP_ENST00000509997.1_Missense_Mutation_p.K184N	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	330						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAGACTAAGCCTGGAGTAA	0.308																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2560-2562)aaG>aaT		muscular LMNA-interacting protein							57	59	58					6																	54066908		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54066908G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.990G>T	6.37:g.54066908G>T	ENSP00000274897:p.Lys330Asn					MLIP_ENST00000274897.5_Missense_Mutation_p.K330N|MLIP_ENST00000509997.1_Missense_Mutation_p.K184N|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Missense_Mutation_p.K865N|MLIP_ENST00000370877.2_Missense_Mutation_p.K226N|MLIP_ENST00000370876.2_Missense_Mutation_p.K174N|MLIP_ENST00000358276.5_Missense_Mutation_p.K230N	p.K854N			Q5VWP3	MLIP_HUMAN			11	2675	+			330					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.2562G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518656	0.64634	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.64	-0.299	0.12808	.	0.000000	0.64402	D	0.000001	T	0.40498	0.1119	M	0.63843	1.955	0.25392	N	0.988511	P;D;D;D	0.89917	0.932;1.0;1.0;1.0	P;D;D;D	0.87578	0.66;0.998;0.983;0.998	T	0.26573	-1.0099	10	0.72032	D	0.01	-4.2592	7.7876	0.29101	0.6326:0.0:0.3674:0.0	.	865;174;330;854	Q5VWP3-3;Q5VWP3-2;Q5VWP3;D6RE05	.;.;MLIP_HUMAN;.	N	330;854;226;184;174;164;865;230;259	ENSP00000274897:K330N;ENSP00000425142:K854N;ENSP00000359914:K226N;ENSP00000427584:K184N;ENSP00000359913:K174N;ENSP00000411917:K164N;ENSP00000426290:K865N;ENSP00000351019:K230N;ENSP00000421444:K259N	ENSP00000274897:K330N	K	+	3	2	MLIP	54174867	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.073000	0.30691	0.011000	0.14865	0.585000	0.79938	AAG		0.308	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		36	206	1	0	6.53348e-20	1	7.30415e-20	36	206					T	54066908	G	T	54066908	3	4	79	1	0	0	0	0	1	0	0	0	2340	962	34	3	1028	3	C6orf142	6	54066908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77428	54066908	117048159	7518	17835											
C6orf142	90523	broad.mit.edu	37	chr6	54095632	54095632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgactgtcttgccccaGgacccttcagtcatctgtcc	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54095632G>A	ENST00000274897.5	+	11	1347	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.G947R|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	412						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTTGCCCCAGGACCCTTCAG	0.512																																						ENST00000502396.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2839-2841)Gga>Aga		muscular LMNA-interacting protein							260	229	240					6																	54095632		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54095632G>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1234G>A	6.37:g.54095632G>A	ENSP00000274897:p.Gly412Arg					MLIP_ENST00000274897.5_Missense_Mutation_p.G412R|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron	p.G947R			Q5VWP3	MLIP_HUMAN			12	2871	+			412					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.2839G>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017688	0.75161	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.28454	1.97;1.61	5.59	5.59	0.84812	.	0.000000	0.41294	D	0.000905	T	0.33089	0.0851	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.22277	-1.0221	10	0.87932	D	0	.	15.1015	0.72279	0.0:0.0:1.0:0.0	.	947;412	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	R	412;947	ENSP00000274897:G412R;ENSP00000426290:G947R	ENSP00000274897:G412R	G	+	1	0	MLIP	54203591	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.200000	0.51051	2.622000	0.88805	0.650000	0.86243	GGA		0.512	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		206	859	0	0	0	1	0	206	859					A	54095632	G	A	54095632	3	1	79	1	0	0	0	0	1	0	0	0	2340	1001	35	2	1276	2	C6orf142	6	54095632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28724	54095632	117019435	7519	17836											
TINAG	27283	broad.mit.edu	37	chr6	54173411	54173411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaatctggatggagaaGcagtatttatctcaaagaga	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.K3K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	21					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGATGGAGAAGCAGTATTTAT	0.403																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(61-63)aaG>aaA		tubulointerstitial nephritis antigen							76	73	74					6																	54173411		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173411G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.63G>A	6.37:g.54173411G>A						TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.K3K|TINAG_ENST00000370869.3_Silent_p.K17K	p.K21K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	159	+	Lung NSC(77;0.0518)		21					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.63G>A	CCDS4955.1																																																																																				0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		55	336	0	0	0	1	0	55	336					A	54173411	G	A	54173411	2	1	79	1	0	0	0	0	0	0	0	1	15973	962	34	2		2	TINAG	6	54173411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77779	54173411	116941656	7520	17837											
TINAG	27283	broad.mit.edu	37	chr6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaattctgtgacagagaAaattctgattgctgtcctga	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	90	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGACAGAGAAAATTCTGATT	0.453																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(268-270)gaA>gaC		tubulointerstitial nephritis antigen							197	187	191					6																	54173618		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173618A>C	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.270A>C	6.37:g.54173618A>C	ENSP00000259782:p.Glu90Asp					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D	p.E90D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	366	+	Lung NSC(77;0.0518)		90			SMB.		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.270A>C	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	7.050	0.564316	0.13498	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.41758	0.99;0.99;0.99	5.09	1.03	0.20045	Somatomedin B domain (4);	0.300007	0.29185	N	0.012887	T	0.06416	0.0165	N	0.19112	0.55	0.23391	N	0.997775	B;B	0.09022	0.001;0.002	B;B	0.16289	0.011;0.015	T	0.40534	-0.9558	10	0.07175	T	0.84	.	5.8169	0.18497	0.4518:0.4473:0.1009:0.0	.	90;90	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	86;90;90;72	ENSP00000359906:E86D;ENSP00000259782:E90D;ENSP00000359901:E72D	ENSP00000259782:E90D	E	+	3	2	TINAG	54281577	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.602000	0.24134	-0.085000	0.12573	0.402000	0.26972	GAA		0.453	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		112	475	0	0	0	1	0	112	475					C	54173618	A	C	54173618	3	2	79	1	0	0	0	0	1	0	0	0	15973	11	1	4	272	4	TINAG	6	54173618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	207	54173618	116941449	7521	17838											
TINAG	27283	broad.mit.edu	37	chr6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaagaatcagaaaaatatCgaaagcttcagacacatgca	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAAAATATCGAAAGCTTCA	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1216-1218)Cga>Tga		tubulointerstitial nephritis antigen							70	69	69					6																	54219400		2202	4298	6500	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54219400C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1216C>T	6.37:g.54219400C>T	ENSP00000259782:p.Arg406*						p.R406*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		9	1312	+	Lung NSC(77;0.0518)		406					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.1216C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097332	0.98063	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.54	2.25	0.28309	.	0.986368	0.08253	N	0.974253	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.4987:0.5013:0.0:0.0	.	.	.	.	X	265;406;85	.	ENSP00000259782:R406X	R	+	1	2	TINAG	54327359	0.865000	0.29922	0.033000	0.17914	0.653000	0.38743	1.940000	0.40223	0.616000	0.30141	0.655000	0.94253	CGA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		61	237	0	0	0	1	0	61	237					T	54219400	C	T	54219400	4	4	79	1	0	0	0	0	0	1	0	0	15973	876	31	1	1250	1	TINAG	6	54219400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45782	54219400	116895667	7522	17839											
FAM83B	222584	broad.mit.edu	37	chr6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacattgagcctcactacaaGgaatggtatcgagtagccat	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(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)					CTCACTACAAGGAATGGTATC	0.423																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.K25N(1)	kidney(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						c.(73-75)aaG>aaT		family with sequence similarity 83, member B							142	128	133					6																	54735119		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735119G>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.75G>T	6.37:g.54735119G>T	ENSP00000304078:p.Lys25Asn						p.K25N	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	191	+	Lung NSC(77;0.0178)|Renal(3;0.122)		25					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.75G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035781	0.54896	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		123	448	1	0	1.04646e-50	1	1.29704e-50	123	448					T	54735119	G	T	54735119	3	4	79	1	0	0	0	0	1	0	0	0	5659	991	35	3	77	3	FAM83B	6	54735119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515719	54735119	116379948	7523	17840											
FAM83B	222584	broad.mit.edu	37	chr6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtaattggaaaaagCcatctgatagtctcagtgtg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	419										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)					TTGGAAAAAGCCATCTGATAG	0.488																																						ENST00000306858.7																			0				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						c.(1255-1257)Cca>Tca		family with sequence similarity 83, member B							73	76	75					6																	54805024		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805024C>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.1255C>T	6.37:g.54805024C>T	ENSP00000304078:p.Pro419Ser						p.P419S	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1371	+	Lung NSC(77;0.0178)|Renal(3;0.122)		419					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1255C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674902	0.29783	.	.	ENSG00000168143	ENST00000306858	T	0.07800	3.16	5.47	3.64	0.41730	.	0.224693	0.40302	N	0.001133	T	0.04998	0.0134	M	0.72118	2.19	0.39476	D	0.967804	B	0.21071	0.051	B	0.14578	0.011	T	0.05784	-1.0864	10	0.72032	D	0.01	-14.0648	10.2045	0.43105	0.1371:0.7924:0.0:0.0705	.	419	Q5T0W9	FA83B_HUMAN	S	419	ENSP00000304078:P419S	ENSP00000304078:P419S	P	+	1	0	FAM83B	54912983	0.998000	0.40836	0.213000	0.23690	0.134000	0.20937	1.064000	0.30579	0.752000	0.32923	0.591000	0.81541	CCA		0.488	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		17	367	0	0	0	1	0	17	367					T	54805024	C	T	54805024	3	4	79	1	0	0	0	0	1	0	0	0	5659	739	26	2	1269	2	FAM83B	6	54805024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69905	54805024	116310043	7524	17841											
FAM83B	222584	broad.mit.edu	37	chr6	54805335	54805335	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtgaccgatttgagggCtatgataatcctgagaattt	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	522										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)					GATTTGAGGGCTATGATAATC	0.408																																						ENST00000306858.7																			0				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						c.(1564-1566)ggC>ggA		family with sequence similarity 83, member B							106	107	107					6																	54805335		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805335C>A	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.1566C>A	6.37:g.54805335C>A							p.G522G	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1682	+	Lung NSC(77;0.0178)|Renal(3;0.122)		522					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.1566C>A	CCDS34479.1																																																																																				0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		15	401	1	0	2.23348e-06	1	2.30073e-06	15	401					A	54805335	C	A	54805335	2	1	79	1	0	0	0	0	0	0	0	1	5659	784	28	3		3	FAM83B	6	54805335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	54805335	116309732	7525	17842											
HCRTR2	3062	broad.mit.edu	37	chr6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctttctggtgacaTacatggcaccactgtgtctc	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTGGTGACATACATGGCACC	0.373																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(694-696)Tac>Cac		hypocretin (orexin) receptor 2							142	117	125					6																	55128552		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128552T>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.694T>C	6.37:g.55128552T>C	ENSP00000359899:p.Tyr232His						p.Y232H	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1030	+	Lung NSC(77;0.107)|Renal(3;0.122)		232					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.694T>C	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608309	0.87258	.	.	ENSG00000137252	ENST00000370862	T	0.72505	-0.66	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92202	0.5769	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	232;232	Q548Y0;O43614	.;OX2R_HUMAN	H	232	ENSP00000359899:Y232H	ENSP00000359899:Y232H	Y	+	1	0	HCRTR2	55236511	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	TAC		0.373	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			37	138	0	0	0	1	0	37	138					C	55128552	T	C	55128552	3	2	79	1	0	0	0	0	1	0	0	0	7032	1406	49	4	708	4	HCRTR2	6	55128552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	323217	55128552	115986515	7526	17843											
GFRAL	389400	broad.mit.edu	37	chr6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagcaagacatgtgCagtgaacatggttccacccc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	211					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGACATGTGCAGTGAACATG	0.428																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(631-633)gCa>gTa		GDNF family receptor alpha like							108	106	107					6																	55216312		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216312C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.632C>T	6.37:g.55216312C>T	ENSP00000343636:p.Ala211Val						p.A211V	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	718	+	Lung NSC(77;0.0875)|Renal(3;0.122)		211					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.632C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120224	0.56613	.	.	ENSG00000187871	ENST00000340465	T	0.42513	0.97	6.05	5.19	0.71726	.	0.062950	0.64402	D	0.000005	T	0.30947	0.0781	L	0.59436	1.845	0.39501	D	0.968204	P	0.43314	0.803	B	0.40702	0.338	T	0.31724	-0.9933	10	0.87932	D	0	-5.4052	15.1396	0.72601	0.0:0.9328:0.0:0.0672	.	211	Q6UXV0	GFRAL_HUMAN	V	211	ENSP00000343636:A211V	ENSP00000343636:A211V	A	+	2	0	GFRAL	55324271	0.997000	0.39634	0.897000	0.35233	0.739000	0.42172	3.913000	0.56394	1.566000	0.49654	0.650000	0.86243	GCA		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		90	403	0	0	0	1	0	90	403					T	55216312	C	T	55216312	3	4	79	1	0	0	0	0	1	0	0	0	6380	710	25	2	650	2	GFRAL	6	55216312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87760	55216312	115898755	7527	17844											
HMGCLL1	54511	broad.mit.edu	37	chr6	55304313	55304313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttttgcataagggcaGccacctaatccggatactgc	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(928-930)ggC>ggT		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							103	97	99					6																	55304313		1875	4107	5982	SO:0001819	synonymous_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55304313G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.930C>T	6.37:g.55304313G>A						HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000370850.2_Silent_p.G177G	p.G310G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		9	1061	-	Lung NSC(77;0.0875)		310					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	c.930C>T	CCDS43475.1																																																																																				0.423	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		68	324	0	0	0	1	0	68	324					A	55304313	G	A	55304313	2	1	79	1	0	0	0	0	0	0	0	1	7260	958	34	2		2	HMGCLL1	6	55304313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88001	55304313	115810754	7528	17845											
BMP5	653	broad.mit.edu	37	chr6	55623887	55623887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacaataaaatgcagcGtatccttctggtgctataat	6	10	2	0	rs184900087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	377					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)			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)			AAAATGCAGCGTATCCTTCTG	0.343													G|||	11	0.00219649	0.0	0.0144	5008	,	,		10671	0.0		0.001	False		,,,				2504	0.0					ENST00000370830.3																			0				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						c.(1129-1131)taC>taT		bone morphogenetic protein 5							151	138	143					6																	55623887		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55623887G>A		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.1131C>T	6.37:g.55623887G>A						BMP5_ENST00000446683.2_Intron	p.Y377Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	1829	-	Lung NSC(77;0.0462)		377					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.1131C>T	CCDS4958.1																																																																																				0.343	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			82	353	0	0	0	1	0	82	353					A	55623887	G	A	55623887	2	1	79	1	0	0	0	0	0	0	0	1	1465	1140	40	1		1	BMP5	6	55623887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319574	55623887	115491180	7529	17846											
BMP5	653	broad.mit.edu	37	chr6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctccttttgcataacccActagaacccagcagctccag	5	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	22					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)			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)			TGCATAACCCACTAGAACCCA	0.388																																						ENST00000370830.3																			0				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						c.(64-66)gTg>gCg		bone morphogenetic protein 5							145	159	155					6																	55739599		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739599A>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.65T>C	6.37:g.55739599A>G	ENSP00000359866:p.Val22Ala					BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	763	-	Lung NSC(77;0.0462)		22					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.65T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599136	0.28534	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71698	-0.59;-0.21	5.72	5.72	0.89469	.	0.153821	0.43110	D	0.000608	T	0.24967	0.0606	N	0.02539	-0.55	0.46586	D	0.999113	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.31696	-0.9934	10	0.07990	T	0.79	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	22;22	B4E0Y4;P22003	.;BMP5_HUMAN	A	22	ENSP00000359866:V22A;ENSP00000391818:V22A	ENSP00000359866:V22A	V	-	2	0	BMP5	55847558	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.979000	0.70508	2.172000	0.68678	0.533000	0.62120	GTG		0.388	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			199	947	0	0	0	1	0	199	947					G	55739599	A	G	55739599	3	3	79	1	0	0	0	0	1	0	0	0	1465	159	6	4	1327	4	BMP5	6	55739599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115712	55739599	115375468	7530	17847											
COL21A1	81578	broad.mit.edu	37	chr6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacactaatagtttggtcCttttctgaacggatctcttc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAGTTTGGTCCTTTTCTGAAC	0.473																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2860-2862)Gga>Tga		collagen, type XXI, alpha 1							86	81	82					6																	55922469		1910	4132	6042	SO:0001587	stop_gained	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55922469C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2860G>T	6.37:g.55922469C>A	ENSP00000244728:p.Gly954*					COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*|COL21A1_ENST00000467045.1_5'UTR	p.G954*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		30	3257	-	Lung NSC(77;0.0483)		954					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	c.2860G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607457	0.98387	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.44055	D	0.996794	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8313	0.88683	0.0:1.0:0.0:0.0	.	.	.	.	X	954;951;954;951;320	.	ENSP00000244728:G954X	G	-	1	0	COL21A1	56030428	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.794000	0.75135	2.275000	0.75901	0.655000	0.94253	GGA		0.473	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			27	107	1	0	1.50538e-07	1	1.5642e-07	27	107					A	55922469	C	A	55922469	4	1	79	1	0	0	0	0	0	1	0	0	3689	690	24	3	17	3	COL21A1	6	55922469	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182870	55922469	115192598	7531	17848											
COL21A1	81578	broad.mit.edu	37	chr6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atatgatggaggaagaccttCtgggaaaacattgctagaaa	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	275	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGAAGACCTTCTGGGAAAACA	0.348																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(823-825)Gaa>Aaa		collagen, type XXI, alpha 1							72	62	65					6																	56035650		1819	4075	5894	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035650C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.823G>A	6.37:g.56035650C>T	ENSP00000244728:p.Glu275Lys					COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1220	-	Lung NSC(77;0.0483)		275			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.823G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923244	0.73213	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.15603	2.41;2.41;2.41	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	U	0.000071	T	0.25306	0.0615	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.03221	-1.1059	10	0.16896	T	0.51	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	275;275	Q96P44-3;Q96P44	.;COLA1_HUMAN	K	275	ENSP00000244728:E275K;ENSP00000359855:E275K;ENSP00000444384:E275K	ENSP00000244728:E275K	E	-	1	0	COL21A1	56143609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.126000	0.65437	0.591000	0.81541	GAA		0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			19	55	0	0	0	1	0	19	55					T	56035650	C	T	56035650	3	4	79	1	0	0	0	0	1	0	0	0	3689	922	32	2	2154	2	COL21A1	6	56035650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113181	56035650	115079417	7532	17849											
COL21A1	81578	broad.mit.edu	37	chr6	56035927	56035927	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtgttggacagacagattCtataaagcaaaagcaataaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGACAGATTCTATAAAGCAA	0.303																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.e4-1		collagen, type XXI, alpha 1							78	70	73					6																	56035927		1821	4071	5892	SO:0001630	splice_region_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035927C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.641-1G>T	6.37:g.56035927C>A						COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site		NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1038	-	Lung NSC(77;0.0483)							A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37		CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56143886	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.235000	0.78143	2.084000	0.62774	0.585000	0.79938	.		0.303	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Intron	10	247	1	0	6.40141e-05	1	6.5221e-05	10	247					A	56035927	C	A	56035927	5	1	79	1	0	0	0	0	0	0	1	0	3689	927	32	3	2341	3	COL21A1	6	56035927	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	56035927	115079140	7533	17850											
DST	667	broad.mit.edu	37	chr6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggggaggccgcctgcGcagcctgactggacacagaa	15	13	0	2	rs201429821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000361203.3	-	96	21963	c.21956C>T	c.(21955-21957)gCg>gTg	p.A7319V	DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V			Q03001	DYST_HUMAN	dystonin	7428	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCGCCTGCGCAGCCTGACT	0.587													G|||	5	0.000998403	0.0	0.0	5008	,	,		17762	0.0		0.005	False		,,,				2504	0.0					ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(22822-22824)gCg>gTg		dystonin		G	VAL/ALA	1,4025		0,1,2012	55	64	61		14975	0.6	0	6		61	13,8311		0,13,4149	yes	missense	DST	NM_015548.4	64	0,14,6161	AA,AG,GG		0.1562,0.0248,0.1134	benign	4992/5172	56328406	14,12336	2013	4162	6175	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56328406G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21956C>T	6.37:g.56328406G>A	ENSP00000354508:p.Ala7319Val					DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000361203.3_Missense_Mutation_p.A7319V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000446842.2_Missense_Mutation_p.A7104V	p.A7608V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		100	22822	-	Lung NSC(77;0.103)		7428					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.22823C>T		4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	2.123|2.123	-0.400962|-0.400962	0.04865|0.04865	2.48E-4|2.48E-4	0.001562|0.001562	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.62105|.	1.13;0.05;0.05;0.13;1.01;0.1;0.06|.	5.73|5.73	0.582|0.582	0.17412|0.17412	.|.	0.489613|.	0.18730|.	N|.	0.132777|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.03608|0.03608	-0.345|-0.345	0.23589|.	N|.	0.997341|.	B;B;B;B;B;B;B;B|.	0.16166|.	0.0;0.01;0.002;0.0;0.003;0.002;0.0;0.016|.	B;B;B;B;B;B;B;B|.	0.13407|.	0.001;0.0;0.001;0.001;0.009;0.001;0.002;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|4	0.23891|.	T|.	0.37|.	.|.	13.3256|13.3256	0.60457|0.60457	0.2087:0.2518:0.5395:0.0|0.2087:0.2518:0.5395:0.0	.|.	5315;7430;7608;7428;4992;116;79;5233|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	V|C	4992;7608;7430;5315;7104;5233;7319|117	ENSP00000244364:A4992V;ENSP00000359790:A7608V;ENSP00000359805:A7430V;ENSP00000400883:A5315V;ENSP00000393645:A7104V;ENSP00000359824:A5233V;ENSP00000354508:A7319V|.	ENSP00000244364:A4992V|.	A|R	-|-	2|1	0|0	DST|DST	56436365|56436365	0.014000|0.014000	0.17966|0.17966	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	0.391000|0.391000	0.20784|0.20784	-0.186000|-0.186000	0.10533|0.10533	-0.165000|-0.165000	0.13383|0.13383	GCG|CGC		0.587	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		80	353	0	0	0	1	0	80	353					A	56328406	G	A	56328406	3	1	79	1	0	0	0	0	1	0	0	0	4799	1087	38	1	556	1	DST	6	56328406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292479	56328406	114786661	7534	17851											
DST	667	broad.mit.edu	37	chr6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatggtagtgatggagtCggggtggcagatagccaaaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000361203.3	-	86	20666	c.20659G>A	c.(20659-20661)Gac>Aac	p.D6887N	DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N			Q03001	DYST_HUMAN	dystonin	6888					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGATGGAGTCGGGGTGGCAG	0.458																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21526-21528)Gac>Aac		dystonin							171	178	176					6																	56342199		1950	4159	6109	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56342199C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20659G>A	6.37:g.56342199C>T	ENSP00000354508:p.Asp6887Asn					DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000361203.3_Missense_Mutation_p.D6887N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N	p.D7176N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		91	21525	-	Lung NSC(77;0.103)		6996					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.21526G>A		.	.	.	.	.	.	.	.	.	.	C	28.3	4.907843	0.92107	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52983	0.64;1.08;1.08;0.64;1.08;1.08;1.08	5.58	5.58	0.84498	.	0.000000	0.53938	D	0.000059	T	0.69655	0.3135	M	0.84846	2.72	0.32497	N	0.5393319999999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.999;1.0;0.999;0.999;0.892	T	0.71189	-0.4666	9	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	4910;6998;7176;6996;4584	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4584;7176;6998;4910;6672;4801;6887	ENSP00000244364:D4584N;ENSP00000359790:D7176N;ENSP00000359805:D6998N;ENSP00000400883:D4910N;ENSP00000393645:D6672N;ENSP00000359824:D4801N;ENSP00000354508:D6887N	ENSP00000244364:D4584N	D	-	1	0	DST	56450158	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	GAC		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		77	348	0	0	0	1	0	77	348					T	56342199	C	T	56342199	3	4	79	1	0	0	0	0	1	0	0	0	4799	884	31	1	1817	1	DST	6	56342199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13793	56342199	114772868	7535	17852											
DST	667	broad.mit.edu	37	chr6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaataaatcaaaatacccGaagttcagactgctgcttcc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000244364.6	-	47	9931	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W	DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000361203.3_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5654					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			caaaataCCCGAAGTTCAGAC	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(17500-17502)Cgg>Tgg		dystonin							38	35	36					6																	56394248		1841	4102	5943	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56394248G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9724C>T	6.37:g.56394248G>A	ENSP00000244364:p.Arg3242Trp					DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000244364.6_Missense_Mutation_p.R3242W|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000361203.3_Intron|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.R5330W	p.R5834W			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		66	17499	-	Lung NSC(77;0.103)		5654					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	c.17500C>T	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461646	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.62788	1.25;-0.0;0.0;1.25;1.25	5.9	5.01	0.66863	.	0.182958	0.26122	N	0.026212	T	0.44932	0.1317	L	0.36672	1.1	0.27764	N	0.943715	D;B;B;B;B	0.65815	0.995;0.282;0.282;0.004;0.085	B;B;B;B;B	0.44315	0.446;0.018;0.018;0.002;0.013	T	0.55192	-0.8179	9	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.0:0.8605:0.1395	.	3568;5656;5834;5654;3242	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	3242;5834;5656;3568;5330	ENSP00000244364:R3242W;ENSP00000359790:R5834W;ENSP00000359805:R5656W;ENSP00000400883:R3568W;ENSP00000393645:R5330W	ENSP00000244364:R3242W	R	-	1	2	DST	56502207	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.071000	0.64382	1.444000	0.47605	0.650000	0.86243	CGG		0.348	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		27	134	0	0	0	1	0	27	134					A	56394248	G	A	56394248	3	1	79	1	0	0	0	0	1	0	0	0	4799	1057	37	1	5943	1	DST	6	56394248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52049	56394248	114720819	7536	17853											
DST	667	broad.mit.edu	37	chr6	56417657	56417657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgcaacatggtcagGtatttgttactgtaagcctg	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000361203.3	-	57	15307	c.15300C>T	c.(15298-15300)taC>taT	p.Y5100Y	DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000370754.5_Silent_p.Y5280Y			Q03001	DYST_HUMAN	dystonin	5100					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGGTCAGGTATTTGTTAC	0.453																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15838-15840)taC>taT		dystonin							148	139	142					6																	56417657		1912	4151	6063	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417657G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15300C>T	6.37:g.56417657G>A						DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000361203.3_Silent_p.Y5100Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000446842.2_Silent_p.Y4776Y	p.Y5280Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15839	-	Lung NSC(77;0.103)		5100					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.15840C>T																																																																																					0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		122	514	0	0	0	1	0	122	514					A	56417657	G	A	56417657	2	1	79	1	0	0	0	0	0	0	0	1	4799	1256	44	2		2	DST	6	56417657	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23409	56417657	114697410	7537	17854											
DST	667	broad.mit.edu	37	chr6	56483562	56483562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccattaatttttccatcTtcttccgaaactcctctgct	2	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56483562T>G	ENST00000370765.6	-	23	5377	c.5270A>C	c.(5269-5271)aAg>aCg	p.K1757T	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6494					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTTCCATCTTCTTCCGAAA	0.393																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5269-5271)aAg>aCg		dystonin							106	110	109					6																	56483562		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483562T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5270A>C	6.37:g.56483562T>G	ENSP00000359801:p.Lys1757Thr					DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	p.K1757T	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5377	-	Lung NSC(77;0.103)		1149					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.5270A>C	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507487	0.64410	.	.	ENSG00000151914	ENST00000370765	T	0.32988	1.43	5.49	5.49	0.81192	.	.	.	.	.	T	0.37705	0.1013	.	.	.	0.18873	N	0.999988	D	0.76494	0.999	D	0.71656	0.974	T	0.12682	-1.0538	7	0.16420	T	0.52	.	15.8929	0.79315	0.0:0.0:0.0:1.0	.	1757	Q03001-3	.	T	1757	ENSP00000359801:K1757T	ENSP00000359801:K1757T	K	-	2	0	DST	56591521	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.954000	0.70298	2.205000	0.71048	0.528000	0.53228	AAG		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		28	686	0	0	0	1	0	28	686					G	56483562	T	G	56483562	3	3	79	1	0	0	0	0	1	0	0	0	4799	1609	56	4	15133	4	DST	6	56483562	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65905	56483562	114631505	7538	17855											
DST	667	broad.mit.edu	37	chr6	56484401	56484401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtttccctttttcatgAttaagagattctaattctaa	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6328					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCATGATTAAGAGATT	0.343																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4429-4431)aaT>aaC		dystonin							94	95	94					6																	56484401		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484401A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4431T>C	6.37:g.56484401A>G						DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	p.N1477N	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4538	-	Lung NSC(77;0.103)		5149					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	c.4431T>C	CCDS4959.1																																																																																				0.343	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		71	373	0	0	0	1	0	71	373					G	56484401	A	G	56484401	2	3	79	1	0	0	0	0	0	0	0	1	4799	330	12	4		4	DST	6	56484401	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	839	56484401	114630666	7539	17856											
DST	667	broad.mit.edu	37	chr6	56492082	56492082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctatttcggacaccaGcatctataaatatacacagt	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000361203.3	-	30	4016	c.4009C>T	c.(4009-4011)Ctg>Ttg	p.L1337L	DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000518935.1_Silent_p.L1011L			Q03001	DYST_HUMAN	dystonin	1337					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGACACCAGCATCTATAAA	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4543-4545)Ctg>Ttg		dystonin							151	139	143					6																	56492082		2203	4299	6502	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492082G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4009C>T	6.37:g.56492082G>A						DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000361203.3_Silent_p.L1337L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000518935.1_Silent_p.L1011L	p.L1515L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		33	4542	-	Lung NSC(77;0.103)		1337					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.4543C>T																																																																																					0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		91	418	0	0	0	1	0	91	418					A	56492082	G	A	56492082	2	1	79	1	0	0	0	0	0	0	0	1	4799	962	34	2		2	DST	6	56492082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7681	56492082	114622985	7540	17857											
DST	667	broad.mit.edu	37	chr6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgtgccagtcaaaaTcaaggtcccgttctttatac	6	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000361203.3	-	28	3774	c.3767A>C	c.(3766-3768)gAt>gCt	p.D1256A	DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000518935.1_Missense_Mutation_p.D930A			Q03001	DYST_HUMAN	dystonin	1256					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGTCAAAATCAAGGTCCCG	0.373																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4300-4302)gAt>gCt		dystonin							268	226	240					6																	56494123		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494123T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3767A>C	6.37:g.56494123T>G	ENSP00000354508:p.Asp1256Ala					DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000361203.3_Missense_Mutation_p.D1256A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000518935.1_Missense_Mutation_p.D930A	p.D1434A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4300	-	Lung NSC(77;0.103)		1256					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4301A>C		.	.	.	.	.	.	.	.	.	.	T	27.8	4.868477	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000029	T	0.53562	0.1804	M	0.74258	2.255	0.30255	N	0.793703	D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.999;0.999;1.0;0.997;0.999	P;P;P;D;D;D;P;D	0.80764	0.895;0.837;0.895;0.971;0.978;0.994;0.895;0.966	T	0.60419	-0.7267	9	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	1256;1256;1434;930;930;930;1256;930	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	930;1434;1256;1256;930;1256;1256;1256;930;1296;930;930	ENSP00000244364:D930A;ENSP00000359790:D1434A;ENSP00000359805:D1256A;ENSP00000400883:D1256A;ENSP00000393645:D930A;ENSP00000307959:D1256A;ENSP00000359824:D1256A;ENSP00000354508:D1256A;ENSP00000404924:D930A;ENSP00000431030:D1296A;ENSP00000359801:D930A;ENSP00000431003:D930A	ENSP00000244364:D930A	D	-	2	0	DST	56602082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	GAT		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		90	448	0	0	0	1	0	90	448					G	56494123	T	G	56494123	3	3	79	1	0	0	0	0	1	0	0	0	4799	1435	50	4	17634	4	DST	6	56494123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2041	56494123	114620944	7541	17858											
DST	667	broad.mit.edu	37	chr6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccacattgctagctcgaattCtatcaatttcattgatgaga	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000361203.3	-	23	2970	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000518935.1_Missense_Mutation_p.R662K			Q03001	DYST_HUMAN	dystonin	988					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCGAATTCTATCAATTTC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3496-3498)aGa>aAa		dystonin							186	168	174					6																	56498955		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56498955C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2963G>A	6.37:g.56498955C>T	ENSP00000354508:p.Arg988Lys					DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000361203.3_Missense_Mutation_p.R988K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000518935.1_Missense_Mutation_p.R662K	p.R1166K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		26	3496	-	Lung NSC(77;0.103)		988					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3497G>A		.	.	.	.	.	.	.	.	.	.	C	11.37	1.617451	0.28801	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.48	3.66	0.41972	.	0.611371	0.14323	N	0.326849	T	0.24044	0.0582	N	0.04508	-0.205	0.25078	N	0.990944	B;B;B;B;B;B;B;B	0.27951	0.0;0.001;0.0;0.088;0.115;0.001;0.0;0.195	B;B;B;B;B;B;B;B	0.30943	0.0;0.003;0.0;0.028;0.086;0.007;0.0;0.122	T	0.12682	-1.0538	9	0.05959	T	0.93	.	5.762	0.18205	0.1075:0.5844:0.2226:0.0855	.	988;988;1166;662;662;662;988;662	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	662;1166;988;988;662;988;988;988;662;1028;662;662	ENSP00000244364:R662K;ENSP00000359790:R1166K;ENSP00000359805:R988K;ENSP00000400883:R988K;ENSP00000393645:R662K;ENSP00000307959:R988K;ENSP00000359824:R988K;ENSP00000354508:R988K;ENSP00000404924:R662K;ENSP00000431030:R1028K;ENSP00000359801:R662K;ENSP00000431003:R662K	ENSP00000244364:R662K	R	-	2	0	DST	56606914	0.933000	0.31639	0.996000	0.52242	0.992000	0.81027	2.772000	0.47678	1.327000	0.45338	0.585000	0.79938	AGA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		93	438	0	0	0	1	0	93	438					T	56498955	C	T	56498955	3	4	79	1	0	0	0	0	1	0	0	0	4799	913	32	2	18458	2	DST	6	56498955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4832	56498955	114616112	7542	17859											
DST	667	broad.mit.edu	37	chr6	56500405	56500405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgattcctgaacaagGtcttctagcttgtgaatgct	8	9	2	3	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000361203.3	-	20	2542	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000518935.1_Silent_p.D519D			Q03001	DYST_HUMAN	dystonin	845					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGAACAAGGTCTTCTAGCT	0.343																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3067-3069)gaC>gaT		dystonin							126	113	117					6																	56500405		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56500405G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2535C>T	6.37:g.56500405G>A						DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000361203.3_Silent_p.D845D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000518935.1_Silent_p.D519D	p.D1023D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3068	-	Lung NSC(77;0.103)		845					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.3069C>T																																																																																					0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		26	130	0	0	0	1	0	26	130					A	56500405	G	A	56500405	2	1	79	1	0	0	0	0	0	0	0	1	4799	1252	44	2		2	DST	6	56500405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1450	56500405	114614662	7543	17860											
DST	667	broad.mit.edu	37	chr6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaataagttcattagtcGcacgacttacaaaattatgg	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000361203.3	-	17	2130	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000518935.1_Missense_Mutation_p.A382V			Q03001	DYST_HUMAN	dystonin	708					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAGTCGCACGACTTAC	0.353																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2656-2658)gCg>gTg		dystonin							100	103	102					6																	56504351		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504351G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2123C>T	6.37:g.56504351G>A	ENSP00000354508:p.Ala708Val					DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000361203.3_Missense_Mutation_p.A708V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000518935.1_Missense_Mutation_p.A382V	p.A886V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		20	2656	-	Lung NSC(77;0.103)		708					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2657C>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.681009	0.88542	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.94650	0.35;-3.48;-3.48;0.35;-3.48;0.35;0.35;-3.48;0.35;0.35;0.35;0.35	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000081	D	0.96676	0.8915	M	0.76433	2.335	0.33387	D	0.575589	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;P;D;D;D;D;D;P;D	0.83275	0.979;0.933;0.826;0.933;0.991;0.975;0.986;0.996;0.779;0.986	D	0.94922	0.8074	9	0.33141	T	0.24	.	19.2334	0.93849	0.0:0.0:1.0:0.0	.	737;708;708;886;824;382;382;382;708;382	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	382;886;708;708;382;708;708;708;382;748;382;382	ENSP00000244364:A382V;ENSP00000359790:A886V;ENSP00000359805:A708V;ENSP00000400883:A708V;ENSP00000393645:A382V;ENSP00000307959:A708V;ENSP00000359824:A708V;ENSP00000354508:A708V;ENSP00000404924:A382V;ENSP00000431030:A748V;ENSP00000359801:A382V;ENSP00000431003:A382V	ENSP00000244364:A382V	A	-	2	0	DST	56612310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	GCG		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		97	424	0	0	0	1	0	97	424					A	56504351	G	A	56504351	3	1	79	1	0	0	0	0	1	0	0	0	4799	1087	38	1	19322	1	DST	6	56504351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3946	56504351	114610716	7544	17861											
DST	667	broad.mit.edu	37	chr6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttctgttgtcagtatgCgtcctttgctgtacacagaa	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000361203.3	-	14	1470	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000518935.1_Missense_Mutation_p.R162H			Q03001	DYST_HUMAN	dystonin	488					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAGTATGCGTCCTTTGCT	0.423																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1996-1998)cGc>cAc		dystonin							110	108	108					6																	56505335		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505335C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1463G>A	6.37:g.56505335C>T	ENSP00000354508:p.Arg488His					DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000361203.3_Missense_Mutation_p.R488H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000518935.1_Missense_Mutation_p.R162H	p.R666H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	1996	-	Lung NSC(77;0.103)		488					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1997G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.000343	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.65	5.65	0.86999	.	0.111620	0.40554	N	0.001064	D	0.87358	0.6157	N	0.11064	0.09	0.28576	N	0.910365	B;B;D;B;B;B;P;D;B;D	0.89917	0.021;0.135;1.0;0.135;0.257;0.027;0.733;0.992;0.135;0.976	B;B;D;B;B;B;B;P;B;P	0.78314	0.004;0.019;0.991;0.019;0.039;0.007;0.163;0.795;0.019;0.548	D	0.84741	0.0751	9	0.15952	T	0.53	.	13.5198	0.61561	0.0:0.9205:0.0:0.0795	.	517;488;488;666;604;162;162;162;488;162	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	H	162;666;488;488;162;488;488;488;162;528;162;162;666	ENSP00000244364:R162H;ENSP00000359790:R666H;ENSP00000359805:R488H;ENSP00000400883:R488H;ENSP00000393645:R162H;ENSP00000307959:R488H;ENSP00000359824:R488H;ENSP00000354508:R488H;ENSP00000404924:R162H;ENSP00000431030:R528H;ENSP00000359801:R162H;ENSP00000431003:R162H;ENSP00000393082:R666H	ENSP00000244364:R162H	R	-	2	0	DST	56613294	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.398000	0.44486	2.941000	0.99782	0.655000	0.94253	CGC		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		96	445	0	0	0	1	0	96	445					T	56505335	C	T	56505335	3	4	79	1	0	0	0	0	1	0	0	0	4799	768	27	1	19994	1	DST	6	56505335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	56505335	114609732	7545	17862											
BEND6	221336	broad.mit.edu	37	chr6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaggaagaattgtgcGccaaaataaaaagcctgaaa	9	6	1	2	rs371013253	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370746.3	+	3	483	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370745.1_Missense_Mutation_p.A72T|BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370748.3_Missense_Mutation_p.A72T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					ENST00000370748.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(214-216)Gcc>Acc		BEN domain containing 6		G	THR/ALA	2,3626		0,2,1812	128	131	130		214	-2.2	0.7	6		130	0,8156		0,0,4078	no	missense	BEND6	NM_152731.2	58	0,2,5890	AA,AG,GG		0.0,0.0551,0.017	benign	72/280	56857269	2,11782	1814	4078	5892	SO:0001583	missense	221336							g.chr6:56857269G>A	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.214G>A	6.37:g.56857269G>A	ENSP00000359782:p.Ala72Thr					BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370746.3_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	p.A72T			Q5SZJ8	BEND6_HUMAN			3	649	+			72					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.214G>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195656	0.22037	5.51E-4	0.0	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	-2.23	0.06930	.	0.684405	0.13848	N	0.358570	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40813	-0.9543	9	0.02654	T	1	0.3172	10.0363	0.42131	0.3402:0.0:0.6598:0.0	.	72	Q5SZJ8	BEND6_HUMAN	T	72	.	ENSP00000322773:A72T	A	+	1	0	BEND6	56965228	0.944000	0.32072	0.741000	0.31004	0.960000	0.62799	0.361000	0.20267	-0.276000	0.09206	-0.137000	0.14449	GCC		0.413	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		138	653	0	0	0	1	0	138	653					A	56857269	G	A	56857269	3	1	79	1	0	0	0	0	1	0	0	0	1403	1087	38	1	220	1	BEND6	6	56857269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	351934	56857269	114257798	7546	17863											
ZNF451	26036	broad.mit.edu	37	chr6	57012217	57012218	+	Frame_Shift_Ins	INS	-	-	A													ctggagtgcattgccattccINSaaaaaagaagatgaatttaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012217_57012218insA	ENST00000370706.4	+	10	1578_1579	c.1334_1335insA	c.(1333-1338)ccaaaafs	p.PK445fs	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.PK445fs|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.PK445fs|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGCCATTCCAAAAAAGAAGA	0.342																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1333-1335)caafs		zinc finger protein 451																																				SO:0001589	frameshift_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012217_57012218insA	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1340dupA	6.37:g.57012223_57012223dupA	ENSP00000359740:p.Pro445fs					RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.Q445fs|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.Q445fs	p.Q445fs	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1578_1579	+	Lung NSC(77;0.145)		445					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Frame_Shift_Ins	INS	ENST00000370706.4	37	c.1334_1335insA	CCDS43477.1																																																																																				0.342	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		65	334						65	334	---	---	---	---	A	57012218	-	A	57012217	7	5	79	1	0	1	1	0	0	0	0	0	17975	594	21	0	1372	0	ZNF451	6	57012217	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	154948	57012217	114102850	7547	17864											
LGSN	51557	broad.mit.edu	37	chr6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctagtttattttctatcCgggtgcctttctctccatga	7	11	2	1	rs199883532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	404					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTTCTATCCGGGTGCCTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18915	0.0		0.0	False		,,,				2504	0.001					ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1210-1212)cGg>cAg		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	C	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101	106	104		,1211	2.8	0.9	6		104	0,8600		0,0,4300	yes	utr-3,missense	LGSN	NM_001143940.1,NM_016571.2	,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,404/510	63990245	1,13005	2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990245C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1211G>A	6.37:g.63990245C>T	ENSP00000359691:p.Arg404Gln					LGSN_ENST00000370658.5_3'UTR	p.R404Q			Q5TDP6	LGSN_HUMAN			4	1244	-			404					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1211G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576455	0.13686	2.27E-4	0.0	ENSG00000146166	ENST00000370657	D	0.89617	-2.54	5.96	2.76	0.32466	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.249758	0.46145	N	0.000315	T	0.59211	0.2177	N	0.10837	0.055	0.80722	D	1	B	0.21688	0.059	B	0.15052	0.012	T	0.60182	-0.7313	10	0.56958	D	0.05	-9.1962	2.0179	0.03502	0.2492:0.3787:0.0:0.3721	.	404	Q5TDP6	LGSN_HUMAN	Q	404	ENSP00000359691:R404Q	ENSP00000359691:R404Q	R	-	2	0	LGSN	64048204	0.928000	0.31464	0.925000	0.36789	0.019000	0.09904	1.550000	0.36223	0.808000	0.34231	0.655000	0.94253	CGG		0.448	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		87	533	0	0	0	1	0	87	533					T	63990245	C	T	63990245	3	4	79	1	0	0	0	0	1	0	0	0	8791	652	23	1	322	1	LGSN	6	63990245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6978028	63990245	107124822	7548	17865											
LGSN	51557	broad.mit.edu	37	chr6	63990442	63990442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccattttttcccagtgatCgtgagctgctcagttccaga	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370657.4	-	4	1047	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	338					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCCAGTGATCGTGAGCTGCT	0.488																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(592-594)cGa>cAa		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						92	94	93					6																	63990442		2202	4300	6502	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990442C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1014G>A	6.37:g.63990442C>T						LGSN_ENST00000370657.4_Silent_p.T338T	p.R198Q	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			5	626	-			0					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.593G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755162	0.31046	.	.	ENSG00000146166	ENST00000370658	T	0.29655	1.56	5.55	-4.6	0.03390	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40365	-0.9567	8	0.29301	T	0.29	-8.7929	7.2324	0.26051	0.0:0.1424:0.351:0.5066	.	198	Q5TDP6-2	.	Q	198	ENSP00000359692:R198Q	ENSP00000359692:R198Q	R	-	2	0	LGSN	64048401	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-2.323000	0.01117	-0.523000	0.06409	0.655000	0.94253	CGA		0.488	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		104	419	0	0	0	1	0	104	419					T	63990442	C	T	63990442	2	4	79	1	0	0	0	0	0	0	0	1	8791	884	31	1		1	LGSN	6	63990442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	63990442	107124625	7549	17866											
LGSN	51557	broad.mit.edu	37	chr6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacatatggtttagtgaCtttcttccttgtccttctta	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370657.4	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370658.5_Missense_Mutation_p.V35F			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	35					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTAGTGACTTTCTTCCTT	0.383																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(103-105)Gtc>Ttc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						273	247	256					6																	64004878		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004878C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.103G>T	6.37:g.64004878C>A	ENSP00000359691:p.Val35Phe					LGSN_ENST00000370657.4_Missense_Mutation_p.V35F	p.V35F	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			2	136	-			35					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.103G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741295	0.30865	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.31510	1.49;1.58	4.71	3.81	0.43845	.	0.617997	0.16143	N	0.227638	T	0.31734	0.0806	M	0.61703	1.905	0.30343	N	0.785487	D;P;B	0.63046	0.992;0.828;0.435	P;P;B	0.59487	0.858;0.576;0.303	T	0.13019	-1.0525	10	0.72032	D	0.01	-5.3792	9.4806	0.38898	0.0:0.8938:0.0:0.1062	.	35;35;35	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	F	35	ENSP00000359692:V35F;ENSP00000359691:V35F	ENSP00000359691:V35F	V	-	1	0	LGSN	64062837	0.993000	0.37304	0.991000	0.47740	0.050000	0.14768	1.937000	0.40193	1.041000	0.40125	0.591000	0.81541	GTC		0.383	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		61	342	1	0	4.88506e-25	1	5.59823e-25	61	342					A	64004878	C	A	64004878	3	1	79	1	0	0	0	0	1	0	0	0	8791	565	20	3	1438	3	LGSN	6	64004878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14436	64004878	107110189	7550	17867											
LGSN	51557	broad.mit.edu	37	chr6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcttcagtctcattgCcttcatctcttgttgagtcc	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370657.4	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370658.5_Missense_Mutation_p.G17D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	17					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTCTCATTGCCTTCATCTCT	0.343																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(49-51)gGc>gAc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						222	198	206					6																	64004931		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004931C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.50G>A	6.37:g.64004931C>T	ENSP00000359691:p.Gly17Asp					LGSN_ENST00000370657.4_Missense_Mutation_p.G17D	p.G17D	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			2	83	-			17					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.50G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339613	0.01277	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.29917	1.55;1.71	4.71	-3.36	0.04913	.	1.469430	0.03347	N	0.195606	T	0.06142	0.0159	L	0.28115	0.83	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.24941	-1.0146	10	0.42905	T	0.14	-0.0486	2.1585	0.03819	0.1468:0.2274:0.1273:0.4985	.	17;17;17	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	17	ENSP00000359692:G17D;ENSP00000359691:G17D	ENSP00000359691:G17D	G	-	2	0	LGSN	64062890	0.000000	0.05858	0.044000	0.18714	0.045000	0.14185	-1.711000	0.01886	-0.751000	0.04734	-0.218000	0.12543	GGC		0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		49	263	0	0	0	1	0	49	263					T	64004931	C	T	64004931	3	4	79	1	0	0	0	0	1	0	0	0	8791	739	26	2	1491	2	LGSN	6	64004931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	64004931	107110136	7551	17868											
PTP4A1	7803	broad.mit.edu	37	chr6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctcaccagagctccaGtacttgttgccctagcatta	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	113	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAGAGCTCCAGTACTTGTTGC	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)	ENST00000370651.3																			0				large_intestine(3)|lung(4)|skin(1)	8						c.(337-339)Gta>Tta		protein tyrosine phosphatase type IVA, member 1							105	100	102					6																	64289169		2203	4300	6503	SO:0001583	missense	7803				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	g.chr6:64289169G>T	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.337G>T	6.37:g.64289169G>T	ENSP00000359685:p.Val113Leu					PTP4A1_ENST00000370650.2_Intron	p.V113L	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		5	1490	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		113			Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	ENST00000370651.3	37	c.337G>T	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520784	0.85495	.	.	ENSG00000112245	ENST00000370651	D	0.85088	-1.94	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.80028	2.48	0.80722	D	1	B	0.19445	0.036	B	0.30646	0.118	T	0.81807	-0.0763	10	0.62326	D	0.03	-15.7504	20.394	0.98981	0.0:0.0:1.0:0.0	.	113	Q93096	TP4A1_HUMAN	L	113	ENSP00000359685:V113L	ENSP00000359685:V113L	V	+	1	0	PTP4A1	64347128	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GTA		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2			67	316	1	0	5.32961e-40	1	6.45334e-40	67	316					T	64289169	G	T	64289169	3	4	79	1	0	0	0	0	1	0	0	0	12818	1029	36	3	351	3	PTP4A1	6	64289169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284238	64289169	106825898	7552	17869											
PHF3	23469	broad.mit.edu	37	chr6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattaagtaacacaaaaaaaGcatctgggaagactgtatct	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000262043.3	+	4	821	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000393387.1_Missense_Mutation_p.A161S|PHF3_ENST00000509330.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(481-483)Gca>Tca		PHD finger protein 3							160	170	166					6																	64394104		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394104G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.481G>T	6.37:g.64394104G>T	ENSP00000262043:p.Ala161Ser					PHF3_ENST00000509330.1_Missense_Mutation_p.A161S|PHF3_ENST00000393387.1_Missense_Mutation_p.A161S	p.A161S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	821	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		161					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.481G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643124	0.14451	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41400	2.01;2.32;2.01;1.0;2.32	5.69	1.84	0.25277	.	0.563095	0.13620	N	0.374471	T	0.09774	0.0240	L	0.38531	1.155	0.20307	N	0.999911	B;B	0.31435	0.031;0.323	B;B	0.26770	0.008;0.073	T	0.35051	-0.9804	10	0.15066	T	0.55	-5.3199	6.3407	0.21321	0.0696:0.3046:0.4872:0.1386	.	161;161	Q92576;D6R9X2	PHF3_HUMAN;.	S	73;161;114;161;161;91	ENSP00000425227:A73S;ENSP00000262043:A161S;ENSP00000424078:A114S;ENSP00000422841:A161S;ENSP00000377048:A161S	ENSP00000262043:A161S	A	+	1	0	PHF3	64452063	0.992000	0.36948	0.835000	0.33067	0.985000	0.73830	0.067000	0.14510	-0.158000	0.11040	-0.810000	0.03169	GCA		0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			151	666	1	0	1.893e-82	1	2.42261e-82	151	666					T	64394104	G	T	64394104	3	4	79	1	0	0	0	0	1	0	0	0	11878	971	34	3	491	3	PHF3	6	64394104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104935	64394104	106720963	7553	17870											
PHF3	23469	broad.mit.edu	37	chr6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagttagctgcttggagacGaagagaaaacagacatgtaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1028	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTTGGAGACGAAGAGAAAAC	0.313																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3082-3084)cGa>cAa		PHD finger protein 3							61	63	62					6																	64410340		2203	4298	6501	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64410340G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3083G>A	6.37:g.64410340G>A	ENSP00000262043:p.Arg1028Gln					PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q	p.R1028Q			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		9	3423	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1028			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3083G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554481	0.65425	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.40225	2.32;1.04;2.35;2.35	5.26	5.26	0.73747	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (2);	0.000000	0.30410	N	0.009690	T	0.05823	0.0152	N	0.01631	-0.79	0.35713	D	0.816557	B	0.21147	0.052	B	0.15870	0.014	T	0.27806	-1.0063	10	0.17832	T	0.49	-8.7725	6.8689	0.24108	0.2167:0.0:0.7833:0.0	.	1028	Q92576	PHF3_HUMAN	Q	842;297;1028;1028	ENSP00000424694:R842Q;ENSP00000425338:R297Q;ENSP00000262043:R1028Q;ENSP00000377048:R1028Q	ENSP00000262043:R1028Q	R	+	2	0	PHF3	64468299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	2.456000	0.83038	0.467000	0.42956	CGA		0.313	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	293	0	0	0	1	0	32	293					A	64410340	G	A	64410340	3	1	79	1	0	0	0	0	1	0	0	0	11878	1058	37	1	3113	1	PHF3	6	64410340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16236	64410340	106704727	7554	17871											
PHF3	23469	broad.mit.edu	37	chr6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcacccatttcgaagaGgatcagcagtagcgacatct	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3	1757					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCGAAGAGGATCAGCAGT	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5269-5271)Gga>Tga		PHD finger protein 3							98	96	97					6																	64422753		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422753G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5269G>T	6.37:g.64422753G>T	ENSP00000262043:p.Gly1757*					PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*	p.G1757*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1757					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.5269G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	43	10.083548	0.99332	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.38663	N	0.001604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7549	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	1757	.	.	G	+	1	0	PHF3	64480712	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	6.716000	0.74702	2.836000	0.97738	0.655000	0.94253	GGA		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			90	461	1	0	5.86298e-51	1	7.2719e-51	90	461					T	64422753	G	T	64422753	4	4	79	1	0	0	0	0	0	1	0	0	11878	1001	35	3	5327	3	PHF3	6	64422753	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12413	64422753	106692314	7555	17872											
EYS	346007	broad.mit.edu	37	chr6	66053985	66053985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattattatcttcaggatcGttcacataggttgcatcttc	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000370621.3	-	10	2071	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	515					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAGGATCGTTCACATAGG	0.373																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1543-1545)aaC>aaT		eyes shut homolog (Drosophila)							98	98	98					6																	66053985		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66053985G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1545C>T	6.37:g.66053985G>A						EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000370621.3_Silent_p.N515N	p.N515N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			10	2082	-			515					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.1545C>T																																																																																					0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		59	272	0	0	0	1	0	59	272					A	66053985	G	A	66053985	2	1	79	1	0	0	0	0	0	0	0	1	5350	1136	40	1		1	EYS	6	66053985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1631232	66053985	105061082	7556	17873											
EYS	346007	broad.mit.edu	37	chr6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcaaataccatggaAggtgactccacagtagcaga	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000370621.3	-	9	1919	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000503581.1_Missense_Mutation_p.F465V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCATGGAAGGTGACTCCA	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1393-1395)Ttc>Gtc		eyes shut homolog (Drosophila)							117	107	111					6																	66063417		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063417A>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1393T>G	6.37:g.66063417A>C	ENSP00000359655:p.Phe465Val					EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000370621.3_Missense_Mutation_p.F465V	p.F465V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1930	-			465					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1393T>G		.	.	.	.	.	.	.	.	.	.	a	5.754	0.323466	0.10900	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.14	1.69	0.24217	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.006;0.004;0.005	T	0.47849	-0.9085	9	0.17369	T	0.5	.	3.4856	0.07618	0.6336:0.0:0.1204:0.2461	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	465	ENSP00000424243:F465V;ENSP00000359655:F465V;ENSP00000359650:F465V;ENSP00000377042:F465V;ENSP00000341818:F465V;ENSP00000359652:F465V	ENSP00000341818:F465V	F	-	1	0	EYS	66120138	0.011000	0.17503	0.001000	0.08648	0.009000	0.06853	1.014000	0.29950	0.063000	0.16370	-0.326000	0.08463	TTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		63	328	0	0	0	1	0	63	328					C	66063417	A	C	66063417	3	2	79	1	0	0	0	0	1	0	0	0	5350	72	3	4	8143	4	EYS	6	66063417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9432	66063417	105051650	7557	17874											
EYS	346007	broad.mit.edu	37	chr6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtgttgatgaattagGtaaacattcttcaaaaacca	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000370621.3	-	9	1882	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	452					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATGAATTAGGTAAACATTCT	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1354-1356)taC>taA		eyes shut homolog (Drosophila)							116	105	109					6																	66063454		2203	4300	6503	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063454G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1356C>A	6.37:g.66063454G>T	ENSP00000359655:p.Tyr452*					EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370621.3_Nonsense_Mutation_p.Y452*	p.Y452*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1893	-			452					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.1356C>A		.	.	.	.	.	.	.	.	.	.	g	36	5.640997	0.96693	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.14	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.5793	0.07946	0.3058:0.0:0.6942:0.0	.	.	.	.	X	452	.	ENSP00000341818:Y452X	Y	-	3	2	EYS	66120175	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.467000	0.22035	1.855000	0.53841	0.591000	0.81541	TAC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		59	300	1	0	1.19403e-26	1	1.3775e-26	59	300					T	66063454	G	T	66063454	4	4	79	1	0	0	0	0	0	1	0	0	5350	1256	44	3	8180	3	EYS	6	66063454	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	66063454	105051613	7558	17875											
EYS	346007	broad.mit.edu	37	chr6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaagaaattacaaggatatCtcctaattgaatttgcaaag	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000370621.3	-	4	782	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000503581.1_Missense_Mutation_p.D86N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	86					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAAGGATATCTCCTAATTGA	0.363																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(256-258)Gat>Aat		eyes shut homolog (Drosophila)							80	82	81					6																	66205048		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205048C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.256G>A	6.37:g.66205048C>T	ENSP00000359655:p.Asp86Asn					EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000370621.3_Missense_Mutation_p.D86N	p.D86N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	793	-			86					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043179	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.91180	-2.14;-2.13;-2.13;-2.8;-2.77;-2.77	4.92	3.1	0.35709	.	.	.	.	.	T	0.82107	0.4965	N	0.24115	0.695	0.23381	N	0.997799	D;D;D	0.65815	0.971;0.995;0.991	P;P;P	0.59288	0.805;0.855;0.813	T	0.73487	-0.3967	9	0.30078	T	0.28	.	7.7935	0.29133	0.0:0.8008:0.0:0.1992	.	86;86;86	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	86	ENSP00000424243:D86N;ENSP00000359655:D86N;ENSP00000359650:D86N;ENSP00000377042:D86N;ENSP00000341818:D86N;ENSP00000359652:D86N	ENSP00000341818:D86N	D	-	1	0	EYS	66261769	1.000000	0.71417	0.312000	0.25196	0.448000	0.32197	3.507000	0.53371	0.555000	0.29079	0.591000	0.81541	GAT		0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		72	416	0	0	0	1	0	72	416					T	66205048	C	T	66205048	3	4	79	1	0	0	0	0	1	0	0	0	5350	913	32	2	9300	2	EYS	6	66205048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141594	66205048	104910019	7559	17876											
BAI3	577	broad.mit.edu	37	chr6	69653757	69653757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggtcaccatggagtTtatgttcatttacatgtggt	11	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69653757T>G	ENST00000370598.1	+	6	1887	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	356	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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)				ACCATGGAGTTTATGTTCATT	0.423																																						ENST00000370598.1																			0				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						c.(1066-1068)Tta>Gta		brain-specific angiogenesis inhibitor 3							242	193	210					6																	69653757		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.chr6:69653757T>G	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.1066T>G	6.37:g.69653757T>G	ENSP00000359630:p.Leu356Val						p.L356V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			6	1887	+		all_lung(197;0.212)	356			TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1066T>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762932	0.69763	.	.	ENSG00000135298	ENST00000370598	T	0.52754	0.65	5.16	1.52	0.23074	.	0.000000	0.64402	D	0.000004	T	0.23133	0.0559	N	0.04805	-0.155	0.80722	D	1	D	0.61697	0.99	P	0.60173	0.87	T	0.06789	-1.0807	10	0.31617	T	0.26	.	9.3381	0.38062	0.0:0.187:0.0:0.813	.	356	O60242	BAI3_HUMAN	V	356	ENSP00000359630:L356V	ENSP00000359630:L356V	L	+	1	2	BAI3	69710478	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.086000	0.41643	0.116000	0.18110	0.528000	0.53228	TTA		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	640	0	0	0	1	0	12	640					G	69653757	T	G	69653757	3	3	79	1	0	0	0	0	1	0	0	0	1301	1838	64	4	1080	4	BAI3	6	69653757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3448709	69653757	101461310	7560	17877											
BAI3	577	broad.mit.edu	37	chr6	69949055	69949055	+	Silent	SNP	C	C	T													tccataatactaattaacttCtgcctgtctatcatctcatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949055C>T	ENST00000370598.1	+	20	3572	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	BAI3_ENST00000238918.8_Silent_p.F123F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	917					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)			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)				TAATTAACTTCTGCCTGTCTA	0.348																																						ENST00000370598.1																			0				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						c.(2749-2751)ttC>ttT		brain-specific angiogenesis inhibitor 3							185	178	181					6																	69949055		2203	4297	6500	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949055C>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.2751C>T	6.37:g.69949055C>T						BAI3_ENST00000238918.8_Silent_p.F123F	p.F917F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3572	+		all_lung(197;0.212)	917					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2751C>T	CCDS4968.1																																																																																				0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			10	617	0	0	0	1	0	10	617					T	69949055	C	T	69949055	2	4	79	1	0	0	0	0	0	0	0	1	1301	912	32	2		2	BAI3	6	69949055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295298	69949055	101166012	7561	17878	110	2									
BAI3	577	broad.mit.edu	37	chr6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T													actaattaacttctgcctgtCtatcatctcatccaatatcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	920					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)			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)				TTCTGCCTGTCTATCATCTCA	0.348																																						ENST00000370598.1																			0				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						c.(2758-2760)tCt>tTt		brain-specific angiogenesis inhibitor 3							183	177	179					6																	69949063		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949063C>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.2759C>T	6.37:g.69949063C>T	ENSP00000359630:p.Ser920Phe					BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	p.S920F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3580	+		all_lung(197;0.212)	920					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2759C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722341	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.996;0.99;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	18.5605	0.91098	0.0:1.0:0.0:0.0	.	126;920;920	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	920;126	ENSP00000359630:S920F;ENSP00000238918:S126F	ENSP00000238918:S126F	S	+	2	0	BAI3	70005784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	TCT		0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			98	521	0	0	0	1	0	98	521					T	69949063	C	T	69949063	3	4	79	1	0	0	0	0	1	0	0	0	1301	913	32	2	2829	2	BAI3	6	69949063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	69949063	101166004	7562	17879	110	2									
BAI3	577	broad.mit.edu	37	chr6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaacactttctaggaTttctctaaatgatgatgaag	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000546190.1_Missense_Mutation_p.I183S|BAI3_ENST00000238918.8_Missense_Mutation_p.I425S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1219					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)			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)				CTTTCTAGGATTTCTCTAAAT	0.393																																						ENST00000370598.1																			0				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						c.(3655-3657)aTt>aGt		brain-specific angiogenesis inhibitor 3							87	87	87					6																	70070821		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.chr6:70070821T>G	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.3656T>G	6.37:g.70070821T>G	ENSP00000359630:p.Ile1219Ser					BAI3_ENST00000238918.8_Missense_Mutation_p.I425S|BAI3_ENST00000546190.1_Missense_Mutation_p.I183S	p.I1219S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4477	+		all_lung(197;0.212)	1219					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3656T>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932263	0.73442	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	2.02;2.63;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.72982	0.979;0.915	T	0.41627	-0.9498	10	0.02654	T	1	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	425;1219	B7Z356;O60242	.;BAI3_HUMAN	S	1219;425;183	ENSP00000359630:I1219S;ENSP00000238918:I425S;ENSP00000441821:I183S	ENSP00000238918:I425S	I	+	2	0	BAI3	70127542	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.698000	0.84413	2.126000	0.65437	0.482000	0.46254	ATT		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			67	388	0	0	0	1	0	67	388					G	70070821	T	G	70070821	3	3	79	1	0	0	0	0	1	0	0	0	1301	1493	52	4	3762	4	BAI3	6	70070821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121758	70070821	101044246	7563	17880											
COL19A1	1310	broad.mit.edu	37	chr6	70608839	70608839	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctttttttctttttaaataGaagagtcatgccctatcctg	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTAAATAGAAGAGTCATG	0.308																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.e3-1		collagen, type XIX, alpha 1							66	69	68					6																	70608839		2203	4298	6501	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70608839G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.92-1G>A	6.37:g.70608839G>A								NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			3	193	+								Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37		CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263867	0.23136	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70665560	0.997000	0.39634	0.935000	0.37517	0.032000	0.12392	2.586000	0.46119	2.721000	0.93114	0.650000	0.86243	.		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	39	184	0	0	0	1	0	39	184					A	70608839	G	A	70608839	5	1	79	1	0	0	0	0	0	0	1	0	3685	956	33	2	97	2	COL19A1	6	70608839	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538018	70608839	100506228	7564	17881											
COL19A1	1310	broad.mit.edu	37	chr6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaccttttattttagggtCagcaaggatctgcaggctcc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	526	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTTAGGGTCAGCAAGGATC	0.368																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1576-1578)Cag>Tag		collagen, type XIX, alpha 1							91	95	94					6																	70852662		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70852662C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1576C>T	6.37:g.70852662C>T	ENSP00000316030:p.Gln526*					COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	p.Q526*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			23	1678	+			526			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.1576C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928743	0.92389	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.27	5.27	0.74061	.	0.157235	0.42053	D	0.000772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.4175	0.83746	0.0:1.0:0.0:0.0	.	.	.	.	X	526;148	.	ENSP00000316030:Q526X	Q	+	1	0	COL19A1	70909383	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.243000	0.43115	2.613000	0.88420	0.585000	0.79938	CAG		0.368	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			48	252	0	0	0	1	0	48	252					T	70852662	C	T	70852662	4	4	79	1	0	0	0	0	0	1	0	0	3685	827	29	2	1662	2	COL19A1	6	70852662	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243823	70852662	100262405	7565	17882											
COL19A1	1310	broad.mit.edu	37	chr6	70866246	70866246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccaggaatcccaggAagagagggaccaaaggtaag	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	741	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATCCCAGGAAGAGAGGGAC	0.458																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2221-2223)ggA>ggG		collagen, type XIX, alpha 1							96	96	96					6																	70866246		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866246A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2223A>G	6.37:g.70866246A>G						COL19A1_ENST00000393344.1_Silent_p.G363G	p.G741G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			33	2325	+			741			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2223A>G	CCDS4970.1																																																																																				0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			69	328	0	0	0	1	0	69	328					G	70866246	A	G	70866246	2	3	79	1	0	0	0	0	0	0	0	1	3685	233	9	4		4	COL19A1	6	70866246	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13584	70866246	100248821	7566	17883											
COL9A1	1297	broad.mit.edu	37	chr6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggtaacccctgcaatcCtgcatcaccaggaggcccag	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	568	Triple-helical region (COL2).				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)			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						CCCTGCAATCCTGCATCACCA	0.373																																						ENST00000357250.6																			0				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						c.(1702-1704)Gga>Aga		collagen, type IX, alpha 1							72	68	70					6																	70964196		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964196C>T		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.1702G>A	6.37:g.70964196C>T	ENSP00000349790:p.Gly568Arg					COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR	p.G568R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			25	1860	-			568			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1702G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249956	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99454	4.575	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	0.96439	0.9325	10	0.87932	D	0	.	18.1361	0.89619	0.0:1.0:0.0:0.0	.	568;325;141	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	568;325;325	ENSP00000349790:G568R;ENSP00000315252:G325R;ENSP00000359530:G325R	ENSP00000315252:G325R	G	-	1	0	COL9A1	71020917	0.999000	0.42202	0.262000	0.24481	0.990000	0.78478	6.026000	0.70873	2.713000	0.92767	0.591000	0.81541	GGA		0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			54	213	0	0	0	1	0	54	213					T	70964196	C	T	70964196	3	4	79	1	0	0	0	0	1	0	0	0	3716	690	24	2	1119	2	COL9A1	6	70964196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97950	70964196	100150871	7567	17884											
COL9A1	1297	broad.mit.edu	37	chr6	70972947	70972947	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaaaatactttacTggaggtccttgagctccaac	6	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.P222P|COL9A1_ENST00000320755.7_Splice_Site_p.P222P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	465	Collagen-like 4.|Triple-helical region (COL2).				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)			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						aataCTTTACTGGAGGTCCTT	0.318																																						ENST00000357250.6																			0				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						c.e19+1		collagen, type IX, alpha 1							33	35	34					6																	70972947		2203	4299	6502	SO:0001630	splice_region_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70972947T>C		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.1395+1A>G	6.37:g.70972947T>C						COL9A1_ENST00000320755.7_Splice_Site_p.P222_splice|COL9A1_ENST00000370499.4_Splice_Site_p.P222_splice|COL9A1_ENST00000489611.1_5'UTR	p.P465_splice	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			19	1553	-			465			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	ENST00000357250.6	37	c.1395_splice	CCDS4971.1																																																																																				0.318	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		Silent	27	113	0	0	0	1	0	27	113					C	70972947	T	C	70972947	5	2	79	1	0	0	0	0	0	0	1	0	3716	1594	55	4	1450	4	COL9A1	6	70972947	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8751	70972947	100142120	7568	17885											
FAM135A	57579	broad.mit.edu	37	chr6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctttgacatccataAactctctaccctccgatgat	4	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000418814.2	+	15	3135	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	841										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATCCATAAACTCTCTACC	0.323																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(2521-2523)Aac>Cac		family with sequence similarity 135, member A							52	51	51					6																	71235308		2202	4295	6497	SO:0001583	missense	57579							g.chr6:71235308A>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2521A>C	6.37:g.71235308A>C	ENSP00000410768:p.Asn841His					FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H	p.N841H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	3135	+			841					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2521A>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234751	0.58886	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.59663	-0.7412	10	0.51188	T	0.08	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	841;841;645;628	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	841;628;628;645;841	ENSP00000410768:N841H;ENSP00000359510:N628H;ENSP00000409201:N628H;ENSP00000354913:N645H;ENSP00000423307:N841H	ENSP00000354913:N645H	N	+	1	0	FAM135A	71292029	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.843000	0.92142	2.289000	0.77006	0.482000	0.46254	AAC		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		44	173	0	0	0	1	0	44	173					C	71235308	A	C	71235308	3	2	79	1	0	0	0	0	1	0	0	0	5469	14	1	4	2649	4	FAM135A	6	71235308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	262361	71235308	99879759	7569	17886											
FAM135A	57579	broad.mit.edu	37	chr6	71236360	71236360	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttacaacttcacttcttcGatttcctggtatgaaagttc	5	10	3	1	rs201206743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000418814.2	+	15	4187	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000370479.3_Silent_p.S978S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1191										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCACTTCTTCGATTTCCTGGT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.001	False		,,,				2504	0.0					ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3571-3573)tcG>tcA		family with sequence similarity 135, member A							52	55	54					6																	71236360		2203	4299	6502	SO:0001819	synonymous_variant	57579							g.chr6:71236360G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3573G>A	6.37:g.71236360G>A						FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000361499.3_Silent_p.S995S	p.S1191S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	4187	+			1191					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.3573G>A	CCDS55028.1																																																																																				0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		63	325	0	0	0	1	0	63	325					A	71236360	G	A	71236360	2	1	79	1	0	0	0	0	0	0	0	1	5469	1045	37	1		1	FAM135A	6	71236360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1052	71236360	99878707	7570	17887											
FAM135A	57579	broad.mit.edu	37	chr6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatagcatgactgatcGtcttttggatgagataatac	9	5	1	4	rs532369145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000418814.2	+	18	4519	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1302								p.R1089H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGTCTTTTGGAT	0.254													G|||	1	0.000199681	0.0	0.0	5008	,	,		16373	0.001		0.0	False		,,,				2504	0.0					ENST00000418814.2																			1	Substitution - Missense(1)	p.R1089H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3904-3906)cGt>cAt		family with sequence similarity 135, member A							99	98	98					6																	71243497		2197	4283	6480	SO:0001583	missense	57579							g.chr6:71243497G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3905G>A	6.37:g.71243497G>A	ENSP00000410768:p.Arg1302His					FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H	p.R1302H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			18	4519	+			1302					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3905G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019663	0.93462	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.15	5.15	0.70609	Domain of unknown function DUF676, lipase-like (1);	0.106313	0.64402	D	0.000004	T	0.77890	0.4198	M	0.88704	2.975	0.80722	D	1	P;D;D;D;D	0.89917	0.902;1.0;1.0;0.998;1.0	P;D;D;P;D	0.97110	0.701;0.999;1.0;0.862;0.984	T	0.81586	-0.0865	10	0.62326	D	0.03	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	882;1302;1302;1106;1089	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	H	1302;1089;882;1089;1106;1302	ENSP00000410768:R1302H;ENSP00000359510:R1089H;ENSP00000423785:R882H;ENSP00000409201:R1089H;ENSP00000354913:R1106H;ENSP00000423307:R1302H	ENSP00000354913:R1106H	R	+	2	0	FAM135A	71300218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.553000	0.86117	0.557000	0.71058	CGT		0.254	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		15	82	0	0	0	1	0	15	82					A	71243497	G	A	71243497	3	1	79	1	0	0	0	0	1	0	0	0	5469	1145	40	1	4045	1	FAM135A	6	71243497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7137	71243497	99871570	7571	17888											
FAM135A	57579	broad.mit.edu	37	chr6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctcttaaagctttattGgacattcgttgggcaattta	7	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000418814.2	+	19	4587	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1325										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCTTTATTGGACATTCGTT	0.318																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3973-3975)Gga>Aga		family with sequence similarity 135, member A							101	103	103					6																	71245970		2202	4299	6501	SO:0001583	missense	57579							g.chr6:71245970G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3973G>A	6.37:g.71245970G>A	ENSP00000410768:p.Gly1325Arg					FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R	p.G1325R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			19	4587	+			1325					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3973G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.096119	0.64402	D	0.000001	D	0.86744	0.6006	M	0.91038	3.17	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;1.0;0.981;1.0	D;D;D;D;D	0.97110	0.921;0.987;1.0;0.914;0.988	D	0.89187	0.3548	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	905;1325;1325;1129;1112	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	R	1325;1112;905;1112;1129;1325	ENSP00000410768:G1325R;ENSP00000359510:G1112R;ENSP00000423785:G905R;ENSP00000409201:G1112R;ENSP00000354913:G1129R;ENSP00000423307:G1325R	ENSP00000354913:G1129R	G	+	1	0	FAM135A	71302691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.766000	0.98957	2.575000	0.86900	0.585000	0.79938	GGA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		55	288	0	0	0	1	0	55	288					A	71245970	G	A	71245970	3	1	79	1	0	0	0	0	1	0	0	0	5469	1349	47	2	4117	2	FAM135A	6	71245970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	71245970	99869097	7572	17889											
OGFRL1	79627	broad.mit.edu	37	chr6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaatattaagcagaGtgctctagagtattttgttt	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000585882.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	278						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(832-834)aGt>aTt		opioid growth factor receptor-like 1							75	85	82					6																	72011229		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011229G>T		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.833G>T	6.37:g.72011229G>T	ENSP00000359464:p.Ser278Ile					RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA	p.S278I	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN			7	967	+			278					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.833G>T	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463810	0.84425	.	.	ENSG00000119900	ENST00000370435	T	0.55234	0.53	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73161	-0.4070	10	0.87932	D	0	-26.5249	20.5948	0.99439	0.0:0.0:1.0:0.0	.	278	Q5TC84	OGRL1_HUMAN	I	278	ENSP00000359464:S278I	ENSP00000359464:S278I	S	+	2	0	OGFRL1	72067950	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	AGT		0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		139	609	1	0	1.8369e-69	1	2.33114e-69	139	609					T	72011229	G	T	72011229	3	4	79	1	0	0	0	0	1	0	0	0	10886	1029	36	3	859	3	OGFRL1	6	72011229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	765259	72011229	99103838	7573	17890											
RIMS1	22999	broad.mit.edu	37	chr6	72889425	72889425	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggctctgaggtaccaagaGaaaagaaagcacgactccaa	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72889425G>T	ENST00000521978.1	+	5	619	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	207					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTACCAAGAGAAAAGAAAGC	0.567																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(619-621)Gaa>Taa		regulating synaptic membrane exocytosis 1							72	80	78					6																	72889425		2051	4206	6257	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889425G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.619G>T	6.37:g.72889425G>T	ENSP00000428417:p.Glu207*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*	p.E207*			Q86UR5	RIMS1_HUMAN			5	619	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	207					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.619G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118274	0.97300	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6795	19.7321	0.96186	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264839:E207X	E	+	1	0	RIMS1	72946146	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.023000	0.70848	2.668000	0.90789	0.655000	0.94253	GAA		0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			10	409	1	0	2.17888e-05	1	2.22852e-05	10	409					T	72889425	G	T	72889425	4	4	79	1	0	0	0	0	0	1	0	0	13417	943	33	3	637	3	RIMS1	6	72889425	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878196	72889425	98225642	7574	17891											
RIMS1	22999	broad.mit.edu	37	chr6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctagagtagatggaCgtcctcgaaatccctatgta	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000521978.1	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R776C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTAGATGGACGTCCTCGAAA	0.358																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2326-2328)Cgt>Tgt		regulating synaptic membrane exocytosis 1							79	73	75					6																	72960117		1842	4088	5930	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72960117C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2326C>T	6.37:g.72960117C>T	ENSP00000428417:p.Arg776Cys					RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R776C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C	p.R776C			Q86UR5	RIMS1_HUMAN			13	2326	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	776			C2 1.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2326C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001142|4.001142	0.74818|0.74818	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;1.53|.	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.99;0.994;0.999;0.999;1.0;0.999;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	-15.9688|-15.9688	14.1452|14.1452	0.65347|0.65347	0.15:0.8499:0.0:0.0|0.15:0.8499:0.0:0.0	.|.	235;250;776;235;250;776;776|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	776;776;776;776;776;776;776;776;776;776;776;776;250;250;169;169;235;1|349	ENSP00000430101:R776C;ENSP00000275037:R776C;ENSP00000264839:R776C;ENSP00000429959:R776C;ENSP00000430408:R776C;ENSP00000430502:R776C;ENSP00000430932:R776C;ENSP00000428417:R776C;ENSP00000385649:R250C;ENSP00000428328:R250C;ENSP00000411235:R169C;ENSP00000389503:R169C;ENSP00000428367:R235C;ENSP00000359448:R1C|.	ENSP00000264839:R776C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73016838|73016838	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	2.896000|2.896000	0.48656|0.48656	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			15	95	0	0	0	1	0	15	95					T	72960117	C	T	72960117	3	4	79	1	0	0	0	0	1	0	0	0	13417	536	19	1	2539	1	RIMS1	6	72960117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70692	72960117	98154950	7575	17892											
RIMS1	22999	broad.mit.edu	37	chr6	73108697	73108697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttggaaaatggggcctgTatagccaagaagaagacaag	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000521978.1	+	33	4761	c.4761T>C	c.(4759-4761)tgT>tgC	p.C1587C	RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000264839.7_Silent_p.C1436C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000520567.1_Silent_p.C1237C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1587	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGGGCCTGTATAGCCAAGA	0.333																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4306-4308)tgT>tgC		regulating synaptic membrane exocytosis 1							96	93	94					6																	73108697		1821	4088	5909	SO:0001819	synonymous_variant	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73108697T>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4761T>C	6.37:g.73108697T>C						RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000521978.1_Silent_p.C1587C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000517960.1_Silent_p.C1370C	p.C1436C			Q86UR5	RIMS1_HUMAN			29	4308	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1587					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.4308T>C	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.660|6.660	0.490392|0.490392	0.12702|0.12702	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.37|5.37	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.43166|0.43166	0.1235|0.1235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35649|0.35649	-0.9780|-0.9780	4|4	.|.	.|.	.|.	-13.4425|-13.4425	8.1248|8.1248	0.30992|0.30992	0.0:0.2829:0.0:0.7171|0.0:0.2829:0.0:0.7171	.|.	.|.	.|.	.|.	A|H	505|933	.|.	.|.	V|Y	+|+	2|1	0|0	RIMS1|RIMS1	73165418|73165418	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	-0.266000|-0.266000	0.08631|0.08631	0.995000|0.995000	0.38917|0.38917	0.482000|0.482000	0.46254|0.46254	GTA|TAT		0.333	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			40	167	0	0	0	1	0	40	167					C	73108697	T	C	73108697	2	2	79	1	0	0	0	0	0	0	0	1	13417	1644	57	4		4	RIMS1	6	73108697	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148580	73108697	98006370	7576	17893											
KCNQ5	56479	broad.mit.edu	37	chr6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttggttcttattttttCgtctttccttgtctatctgg	6	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000370398.1	+	5	948	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTATTTTTTCGTCTTTCCTT	0.338																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			1	Substitution - Missense(1)	p.S280L(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(838-840)tCg>tTg		potassium voltage-gated channel, KQT-like subfamily, member 5							138	118	125					6																	73787531		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787531C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.839C>T	6.37:g.73787531C>T	ENSP00000359425:p.Ser280Leu					KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L	p.S280L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	5	1237	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	280					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.839C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	KCNQ5	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG		0.338	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		20	134	0	0	0	1	0	20	134					T	73787531	C	T	73787531	3	4	79	1	0	0	0	0	1	0	0	0	8116	893	31	1	857	1	KCNQ5	6	73787531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678834	73787531	97327536	7577	17894											
KCNQ5	56479	broad.mit.edu	37	chr6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcagctgacacagccCttggcactgatgatgtatat	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000370398.1	+	11	1589	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L513F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	494					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGACACAGCCCTTGGCACTGA	0.433																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1537-1539)Ctt>Ttt		potassium voltage-gated channel, KQT-like subfamily, member 5							146	121	130					6																	73879480		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73879480C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1480C>T	6.37:g.73879480C>T	ENSP00000359425:p.Leu494Phe					KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L494F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F	p.L513F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	12	1935	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	494					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1537C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995844	0.74703	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.156361	0.44285	D	0.000465	D	0.99174	0.9714	L	0.52573	1.65	0.80722	D	1	D;P;P;D	0.58970	0.957;0.599;0.739;0.984	P;B;B;D	0.67103	0.822;0.27;0.382;0.949	D	0.99960	1.1712	10	0.09590	T	0.72	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	504;513;485;494	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	F	513;513;494;494;504;495;485	ENSP00000345055:L513F;ENSP00000347326:L494F;ENSP00000359425:L494F;ENSP00000385501:L504F;ENSP00000347853:L495F;ENSP00000384453:L485F	ENSP00000345055:L513F	L	+	1	0	KCNQ5	73936201	0.998000	0.40836	0.969000	0.41365	0.965000	0.64279	4.120000	0.57897	2.726000	0.93360	0.655000	0.94253	CTT		0.433	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		47	232	0	0	0	1	0	47	232					T	73879480	C	T	73879480	3	4	79	1	0	0	0	0	1	0	0	0	8116	681	24	2	1583	2	KCNQ5	6	73879480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91949	73879480	97235587	7578	17895											
KCNQ5	56479	broad.mit.edu	37	chr6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacggaagtttaaggaaaCattacgtccatatgatgtaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000370398.1	+	12	1728	c.1619C>T	c.(1618-1620)aCa>aTa	p.T540I	KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T559I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	540					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAAGGAAACATTACGTCCA	0.303																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1675-1677)aCa>aTa		potassium voltage-gated channel, KQT-like subfamily, member 5							88	78	82					6																	73900337		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73900337C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1619C>T	6.37:g.73900337C>T	ENSP00000359425:p.Thr540Ile					KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T540I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I	p.T559I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	13	2074	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	540					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1676C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359449	0.82353	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.02	5.02	0.67125	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.76574	2.34	0.39638	D	0.970273	D;D;P;P;D	0.89917	0.999;1.0;0.954;0.858;1.0	D;D;P;P;D	0.85130	0.931;0.991;0.771;0.661;0.997	D	0.97990	1.0354	10	0.87932	D	0	.	18.3416	0.90307	0.0:1.0:0.0:0.0	.	430;550;559;531;540	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	559;559;540;540;550;541;531;430	ENSP00000345055:T559I;ENSP00000347326:T540I;ENSP00000359425:T540I;ENSP00000385501:T550I;ENSP00000347853:T541I;ENSP00000384453:T531I;ENSP00000409861:T430I	ENSP00000345055:T559I	T	+	2	0	KCNQ5	73957058	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	7.814000	0.86154	2.301000	0.77427	0.643000	0.83706	ACA		0.303	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		24	130	0	0	0	1	0	24	130					T	73900337	C	T	73900337	3	4	79	1	0	0	0	0	1	0	0	0	8116	478	17	2	1726	2	KCNQ5	6	73900337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20857	73900337	97214730	7579	17896											
KCNQ5	56479	broad.mit.edu	37	chr6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccaaatgagttcagtgCccagactttctacgcgctta	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000370398.1	+	14	2205	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A718V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	699					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGTTCAGTGCCCAGACTTTC	0.512																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2152-2154)gCc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 5							135	134	134					6																	73904434		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904434C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2096C>T	6.37:g.73904434C>T	ENSP00000359425:p.Ala699Val					KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A699V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V	p.A718V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2551	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	699					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2153C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954657	0.34471	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.57;-5.57;-5.57;-5.57;-5.58;-5.61;-5.78	5.32	5.32	0.75619	.	0.212896	0.39341	N	0.001382	D	0.96516	0.8863	L	0.40543	1.245	0.25032	N	0.991266	B;B;B;B;B	0.24368	0.102;0.004;0.046;0.076;0.046	B;B;B;B;B	0.27380	0.079;0.026;0.045;0.047;0.045	D	0.93106	0.6512	10	0.38643	T	0.18	-5.5489	14.5834	0.68308	0.0:0.8541:0.1459:0.0	.	589;709;718;690;699	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	718;718;699;699;709;700;690;589	ENSP00000345055:A718V;ENSP00000347326:A699V;ENSP00000359425:A699V;ENSP00000385501:A709V;ENSP00000347853:A700V;ENSP00000384453:A690V;ENSP00000409861:A589V	ENSP00000345055:A718V	A	+	2	0	KCNQ5	73961155	0.997000	0.39634	0.859000	0.33776	0.975000	0.68041	3.482000	0.53186	2.486000	0.83907	0.561000	0.74099	GCC		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		115	566	0	0	0	1	0	115	566					T	73904434	C	T	73904434	3	4	79	1	0	0	0	0	1	0	0	0	8116	739	26	2	2211	2	KCNQ5	6	73904434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4097	73904434	97210633	7580	17897											
KHDC1	80759	broad.mit.edu	37	chr6	73951827	73951827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacaacaaaacatgtgCagcagccactgccttgccct	6	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73951827C>T	ENST00000370384.3	-	4	965	c.465G>A	c.(463-465)ctG>ctA	p.L155L	RP11-257K9.8_ENST00000423730.3_Silent_p.L82L|KHDC1_ENST00000257765.5_Silent_p.L82L	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	155	KH; atypical.					integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						AAAACATGTGCAGCAGCCACT	0.537																																						ENST00000423730.3																			0											c.(244-246)ctG>ctA									63	67	66					6																	73951827		2052	4205	6257	SO:0001819	synonymous_variant	0							g.chr6:73951827C>T		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"chromosome 6 open reading frame 148"	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.465G>A	6.37:g.73951827C>T						KHDC1_ENST00000370384.3_Silent_p.L155L|KHDC1_ENST00000257765.5_Silent_p.L82L	p.L82L							3	681	-								Q5JSQ7|Q8WTV2|Q96NQ5	Silent	SNP	ENST00000370384.3	37	c.246G>A	CCDS59027.1																																																																																				0.537	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		33	136	0	0	0	1	0	33	136					T	73951827	C	T	73951827	2	4	79	1	0	0	0	0	0	0	0	1	8174	697	25	2		2	KHDC1	6	73951827	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47393	73951827	97163240	7581	17898											
C6orf221	154288	broad.mit.edu	37	chr6	74072979	74072979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacctggctgactatcacCgccagctccaggcgaaaggt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74072979C>T	ENST00000370367.3	+	2	384	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	111							RNA binding (GO:0003723)										TGACTATCACCGCCAGCTCCA	0.577																																						ENST00000370367.3																			0											c.(331-333)Cgc>Tgc		KH domain containing 3-like, subcortical maternal complex member							82	79	80					6																	74072979		2203	4300	6503	SO:0001583	missense	154288							g.chr6:74072979C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.331C>T	6.37:g.74072979C>T	ENSP00000359392:p.Arg111Cys						p.R111C	NM_001017361.2	NP_001017361.1					2	384	+								B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.331C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970233	0.34754	.	.	ENSG00000203908	ENST00000370367	T	0.55588	0.51	3.52	1.73	0.24493	.	0.000000	0.44483	D	0.000443	T	0.47266	0.1436	L	0.55743	1.74	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.29088	-1.0023	10	0.56958	D	0.05	-14.0054	5.7963	0.18389	0.0:0.7552:0.0:0.2448	.	111	Q587J8	ECAT1_HUMAN	C	111	ENSP00000359392:R111C	ENSP00000359392:R111C	R	+	1	0	C6orf221	74129700	0.175000	0.23083	0.055000	0.19348	0.004000	0.04260	0.840000	0.27600	0.497000	0.27926	-0.136000	0.14681	CGC		0.577	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		11	522	0	0	0	1	0	11	522					T	74072979	C	T	74072979	3	4	79	1	0	0	0	0	1	0	0	0	2362	652	23	1	337	1	C6orf221	6	74072979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121152	74072979	97042088	7582	17899											
MTO1	25821	broad.mit.edu	37	chr6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaaccgtctacatcaGgtttggttggaacctgaagg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000370300.4	+	6	1083	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H|AL603910.1_ENST00000580608.1_RNA|MTO1_ENST00000498286.1_Missense_Mutation_p.Q331H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	331					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTACATCAGGTTTGGTTGG	0.383											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(991-993)caG>caT		mitochondrial tRNA translation optimization 1							123	114	117					6																	74189713		2203	4300	6503	SO:0001583	missense	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74189713G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.993G>T	6.37:g.74189713G>T	ENSP00000359323:p.Gln331His		OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	MTO1_ENST00000370300.4_Missense_Mutation_p.Q331H|MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H	p.Q331H			Q9Y2Z2	MTO1_HUMAN			6	1270	+			331					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	c.993G>T	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393532	0.62066	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.62723	1.935	0.49687	D	0.999819	P;P;P	0.52170	0.951;0.912;0.929	P;P;P	0.56960	0.712;0.712;0.81	T	0.76857	-0.2804	10	0.87932	D	0	-16.8034	9.0065	0.36115	0.2501:0.0:0.7499:0.0	.	331;331;331	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	H	331;331;234;257;331	ENSP00000402038:Q331H;ENSP00000419561:Q331H;ENSP00000359328:Q257H;ENSP00000359323:Q331H	ENSP00000350506:Q234H	Q	+	3	2	MTO1	74246434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.201000	0.51059	0.672000	0.31204	0.591000	0.81541	CAG		0.383	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		75	318	1	0	7.14593e-30	1	8.36387e-30	75	318					T	74189713	G	T	74189713	3	4	79	1	0	0	0	0	1	0	0	0	9994	991	35	3	1015	3	MTO1	6	74189713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116734	74189713	96925354	7583	17900											
MTO1	25821	broad.mit.edu	37	chr6	74201963	74201963	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatatatttgcagagctctCgatgttctgaagtatgagga	10	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000370300.4	+	11	1809	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000498286.1_Silent_p.L548L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	573					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCAGAGCTCTCGATGTTCTGA	0.373																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(1642-1644)ctC>ctT		mitochondrial tRNA translation optimization 1							71	70	70					6																	74201963		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74201963C>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1719C>T	6.37:g.74201963C>T						RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000370300.4_Silent_p.L573L|MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L	p.L548L			Q9Y2Z2	MTO1_HUMAN			10	1921	+			573					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.1644C>T	CCDS4979.1																																																																																				0.373	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		44	216	0	0	0	1	0	44	216					T	74201963	C	T	74201963	2	4	79	1	0	0	0	0	0	0	0	1	9994	871	31	1		1	MTO1	6	74201963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12250	74201963	96913104	7584	17901											
EEF1A1	1915	broad.mit.edu	37	chr6	74228449	74228449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagacatcctggagaggCaggcgcaagggcttgtcagt	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000331523.2_Silent_p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	248					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(742-744)ctG>ctA		eukaryotic translation elongation factor 1 alpha 1							132	133	133					6																	74228449		2203	4300	6503	SO:0001819	synonymous_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228449C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.744G>A	6.37:g.74228449C>T			OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.L248L	p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			4	1735	-			248					P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	c.744G>A	CCDS4980.1																																																																																				0.483	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		73	306	0	0	0	1	0	73	306					T	74228449	C	T	74228449	2	4	79	1	0	0	0	0	0	0	0	1	4939	697	25	2		2	EEF1A1	6	74228449	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26486	74228449	96886618	7585	17902											
SLC17A5	26503	broad.mit.edu	37	chr6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattgtcagcagcttgaccaGacaggatcatacataaccaa	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	345					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1033-1035)tCt>tAt		solute carrier family 17 (acidic sugar transporter), member 5							100	94	96					6																	74325115		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325115G>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1034C>A	6.37:g.74325115G>T	ENSP00000348019:p.Ser345Tyr					SLC17A5_ENST00000393019.3_3'UTR	p.S345Y	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1302	-			345					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1034C>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627768	0.46944	.	.	ENSG00000119899	ENST00000355773	T	0.59364	0.27	4.83	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372016	0.29767	N	0.011245	T	0.57799	0.2078	L	0.51422	1.61	0.80722	D	1	P;P	0.51791	0.843;0.948	P;P	0.60345	0.873;0.815	T	0.61382	-0.7074	10	0.51188	T	0.08	.	14.6465	0.68764	0.0:0.1519:0.8481:0.0	.	407;345	E1P537;Q9NRA2	.;S17A5_HUMAN	Y	345	ENSP00000348019:S345Y	ENSP00000348019:S345Y	S	-	2	0	SLC17A5	74381836	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.192000	0.58378	0.980000	0.38523	0.561000	0.74099	TCT		0.358	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			50	248	1	0	6.7651e-33	1	8.0037e-33	50	248					T	74325115	G	T	74325115	3	4	79	1	0	0	0	0	1	0	0	0	14470	942	33	3	469	3	SLC17A5	6	74325115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96666	74325115	96789952	7586	17903											
CD109	135228	broad.mit.edu	37	chr6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctggtgacagccccaGggatcatcaggcccggagga	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000287097.5	+	2	212	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_ENST00000437994.2_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W|RP11-553A21.3_ENST00000428865.2_RNA			Q6YHK3	CD109_HUMAN	CD109 molecule	34					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGCCCCAGGGATCATCAG	0.507																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(100-102)Ggg>Tgg		CD109 molecule							107	106	106					6																	74407148		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74407148G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.100G>T	6.37:g.74407148G>T	ENSP00000287097:p.Gly34Trp					CD109_ENST00000287097.5_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W	p.G34W	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			2	531	+			34					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.100G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099419	0.37048	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23552	1.9;2.05;1.9	5.31	3.39	0.38822	.	0.166019	0.38492	N	0.001678	T	0.13927	0.0337	N	0.14661	0.345	0.23848	N	0.996675	D;B;B;B	0.59357	0.985;0.133;0.023;0.012	P;B;B;B	0.61592	0.891;0.025;0.017;0.01	T	0.04413	-1.0953	10	0.45353	T	0.12	.	8.848	0.35181	0.1943:0.0:0.8057:0.0	.	34;34;34;34	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	W	34	ENSP00000388062:G34W;ENSP00000404475:G34W;ENSP00000287097:G34W	ENSP00000287097:G34W	G	+	1	0	CD109	74463869	0.998000	0.40836	0.987000	0.45799	0.829000	0.46940	1.048000	0.30379	1.492000	0.48499	0.655000	0.94253	GGG		0.507	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		71	380	1	0	1.1397e-45	1	1.39802e-45	71	380					T	74407148	G	T	74407148	3	4	79	1	0	0	0	0	1	0	0	0	2972	1000	35	3	106	3	CD109	6	74407148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82033	74407148	96707919	7587	17904											
CD109	135228	broad.mit.edu	37	chr6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacagctctttcacccaCtgcttctgatgctgtcaccc	6	16	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000287097.5	+	21	2631	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000437994.2_Missense_Mutation_p.T840I|CD109_ENST00000422508.2_Missense_Mutation_p.T763I			Q6YHK3	CD109_HUMAN	CD109 molecule	840					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCACCCACTGCTTCTGAT	0.423																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2518-2520)aCt>aTt		CD109 molecule							106	103	104					6																	74497138		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74497138C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2519C>T	6.37:g.74497138C>T	ENSP00000287097:p.Thr840Ile					CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000287097.5_Missense_Mutation_p.T840I	p.T840I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			21	2950	+			840					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2519C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066072	0.08388	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21734	1.99;2.2;1.99	5.45	-2.97	0.05530	.	1.575850	0.04485	U	0.378552	T	0.03520	0.0101	L	0.28014	0.82	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.19391	0.004;0.025;0.002	T	0.38001	-0.9681	10	0.21014	T	0.42	.	2.6389	0.04965	0.0932:0.2575:0.2987:0.3506	.	763;840;840	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	840;763;840	ENSP00000388062:T840I;ENSP00000404475:T763I;ENSP00000287097:T840I	ENSP00000287097:T840I	T	+	2	0	CD109	74553859	0.001000	0.12720	0.089000	0.20774	0.724000	0.41520	-0.157000	0.10085	-0.433000	0.07286	0.650000	0.86243	ACT		0.423	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		63	353	0	0	0	1	0	63	353					T	74497138	C	T	74497138	3	4	79	1	0	0	0	0	1	0	0	0	2972	565	20	2	2601	2	CD109	6	74497138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89990	74497138	96617929	7588	17905											
COL12A1	1303	broad.mit.edu	37	chr6	75839891	75839891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatgatcccaggctacCgagaggctattggttgtttc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2042	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGCTACCGAGAGGCTAT	0.438																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(6124-6126)tcG>tcA		collagen, type XII, alpha 1							126	124	125					6																	75839891		1896	4122	6018	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75839891C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6126G>A	6.37:g.75839891C>T						COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	p.S2042S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			37	6435	-			2042			Fibronectin type-III 16.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.6126G>A	CCDS43482.1																																																																																				0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		57	275	0	0	0	1	0	57	275					T	75839891	C	T	75839891	2	4	79	1	0	0	0	0	0	0	0	1	3678	639	23	1		1	COL12A1	6	75839891	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1342753	75839891	95275176	7589	17906											
COL12A1	1303	broad.mit.edu	37	chr6	75840677	75840677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccagatgcaccatgcgCgtgtttcctggcactactat	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1986	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCATGCGCGTGTTTCCTG	0.507																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5956-5958)acG>acA		collagen, type XII, alpha 1							94	96	95					6																	75840677		2071	4226	6297	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840677C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5958G>A	6.37:g.75840677C>T						COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T	p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6267	-			1986			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5958G>A	CCDS43482.1																																																																																				0.507	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		67	329	0	0	0	1	0	67	329					T	75840677	C	T	75840677	2	4	79	1	0	0	0	0	0	0	0	1	3678	755	27	1		1	COL12A1	6	75840677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	786	75840677	95274390	7590	17907											
COL12A1	1303	broad.mit.edu	37	chr6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgatagtgtaaggagtgtCtggcttcagtttctgcagga	15	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1816	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAAGGAGTGTCTGGCTTCAGT	0.498																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5446-5448)Gac>Tac		collagen, type XII, alpha 1							142	143	143					6																	75844520		1972	4165	6137	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844520C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5446G>T	6.37:g.75844520C>A	ENSP00000325146:p.Asp1816Tyr					COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y	p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5755	-			1816			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5446G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.933242|3.933242	0.73442|0.73442	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.87|5.87	5.0|5.0	0.66597|0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61862|0.61862	0.2381|0.2381	M|M	0.63208|0.63208	1.945|1.945	0.46823|0.46823	D|D	0.999218|0.999218	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.983;0.994|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|5	0.72032|.	D|.	0.01|.	.|.	15.0639|15.0639	0.71977|0.71977	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	652;1816|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1816;1816;652;1816;1816|550	ENSP00000325146:D1816Y;ENSP00000305147:D652Y;ENSP00000412864:D1816Y;ENSP00000421216:D1816Y|.	ENSP00000325146:D1816Y|.	D|R	-|-	1|2	0|0	COL12A1|COL12A1	75901240|75901240	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.764000|0.764000	0.43329|0.43329	5.594000|5.594000	0.67557|0.67557	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		68	275	1	0	1.34568e-36	1	1.61182e-36	68	275					A	75844520	C	A	75844520	3	1	79	1	0	0	0	0	1	0	0	0	3678	913	32	3	3885	3	COL12A1	6	75844520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	75844520	95270547	7591	17908											
COL12A1	1303	broad.mit.edu	37	chr6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgcaggaccacactgttCtgccgtcctcctattgtggt	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1805	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACACTGTTCTGCCGTCCTC	0.478																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5413-5415)caG>caT		collagen, type XII, alpha 1							128	131	130					6																	75844551		1983	4148	6131	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844551C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5415G>T	6.37:g.75844551C>A	ENSP00000325146:p.Gln1805His					COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H	p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5724	-			1805			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5415G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.251718|3.251718	0.59212|0.59212	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	3.06|3.06	0.35304|0.35304	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.48714	.|0.1515	L|L	0.50993|0.50993	1.605|1.605	0.34862|0.34862	D|D	0.742689|0.742689	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.64410	.|0.878;0.925	.|T	.|0.49597	.|-0.8923	.|10	.|0.36615	.|T	.|0.2	.|.	10.5114|10.5114	0.44864|0.44864	0.0:0.7372:0.0:0.2628|0.0:0.7372:0.0:0.2628	.|.	.|641;1805	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	X|H	540|1805;1805;641;1805;1805	.|ENSP00000325146:Q1805H;ENSP00000305147:Q641H;ENSP00000412864:Q1805H;ENSP00000421216:Q1805H	.|ENSP00000325146:Q1805H	E|Q	-|-	1|3	0|2	COL12A1|COL12A1	75901271|75901271	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.621000|0.621000	0.24418|0.24418	0.805000|0.805000	0.34159|0.34159	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		73	278	1	0	1.32218e-49	1	1.6358e-49	73	278					A	75844551	C	A	75844551	3	1	79	1	0	0	0	0	1	0	0	0	3678	912	32	3	3916	3	COL12A1	6	75844551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	75844551	95270516	7592	17909											
COL12A1	1303	broad.mit.edu	37	chr6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttgctggaatttccaCttcatcctgggattttccat	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	257	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAATTTCCACTTCATCCTGG	0.373																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(769-771)Gtg>Ttg		collagen, type XII, alpha 1							79	76	77					6																	75898987		1843	4091	5934	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898987C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.769G>T	6.37:g.75898987C>A	ENSP00000325146:p.Val257Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron	p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			7	1078	-			257			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.769G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839537	0.91117	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.85575	0.5728	M	0.62266	1.93	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.85774	0.1357	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	257	Q99715	COCA1_HUMAN	L	257	ENSP00000325146:V257L;ENSP00000412864:V257L;ENSP00000421216:V257L	ENSP00000325146:V257L	V	-	1	0	COL12A1	75955707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GTG		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		46	195	1	0	1.48734e-19	1	1.65976e-19	46	195					A	75898987	C	A	75898987	3	1	79	1	0	0	0	0	1	0	0	0	3678	565	20	3	8662	3	COL12A1	6	75898987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54436	75898987	95216080	7593	17910											
FILIP1	27145	broad.mit.edu	37	chr6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctgatgtagacaccGtcattatctgaataggggat	12	7	2	3	rs201450409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000237172.7	-	5	3362	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T1011M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1011										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGACACCGTCATTATCTG	0.493																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3031-3033)aCg>aTg		filamin A interacting protein 1							133	130	131					6																	76022516		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022516G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3032C>T	6.37:g.76022516G>A	ENSP00000237172:p.Thr1011Met					FILIP1_ENST00000237172.7_Missense_Mutation_p.T1011M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M	p.T1011M			Q7Z7B0	FLIP1_HUMAN			5	3253	-			1011					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3032C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887244	0.91814	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	1.99;2.0;2.01	6.03	6.03	0.97812	.	0.045131	0.85682	D	0.000000	T	0.34716	0.0907	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.926;0.95;0.977	T	0.01159	-1.1433	10	0.51188	T	0.08	-22.8688	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1011;1011;1011	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1011;1011;912	ENSP00000376728:T1011M;ENSP00000237172:T1011M;ENSP00000359037:T912M	ENSP00000237172:T1011M	T	-	2	0	FILIP1	76079236	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.231000	0.95317	2.861000	0.98227	0.655000	0.94253	ACG		0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		77	653	0	0	0	1	0	77	653					A	76022516	G	A	76022516	3	1	79	1	0	0	0	0	1	0	0	0	5919	1145	40	1	617	1	FILIP1	6	76022516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123529	76022516	95092551	7594	17911											
FILIP1	27145	broad.mit.edu	37	chr6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagactttctcatagtgaGctcatttgctgctggaggat	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000237172.7	-	5	2917	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000393004.2_Missense_Mutation_p.L863F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	863										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCATAGTGAGCTCATTTGCT	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2587-2589)Ctc>Ttc		filamin A interacting protein 1							94	101	99					6																	76022961		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022961G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2587C>T	6.37:g.76022961G>A	ENSP00000237172:p.Leu863Phe					FILIP1_ENST00000237172.7_Missense_Mutation_p.L863F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F	p.L863F			Q7Z7B0	FLIP1_HUMAN			5	2808	-			863					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2587C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160255	0.09287	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20598	2.06;2.06;2.07	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50333	1.59	0.47621	D	0.999475	D;B;B	0.56035	0.974;0.058;0.095	P;B;B	0.53450	0.726;0.036;0.078	T	0.01235	-1.1410	10	0.41790	T	0.15	-11.3231	12.5159	0.56032	0.0:0.1275:0.7399:0.1326	.	863;863;863	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	863;863;764	ENSP00000376728:L863F;ENSP00000237172:L863F;ENSP00000359037:L764F	ENSP00000237172:L863F	L	-	1	0	FILIP1	76079681	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.561000	0.45905	1.459000	0.47892	0.563000	0.77884	CTC		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		119	554	0	0	0	1	0	119	554					A	76022961	G	A	76022961	3	1	79	1	0	0	0	0	1	0	0	0	5919	971	34	2	1062	2	FILIP1	6	76022961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	76022961	95092106	7595	17912											
FILIP1	27145	broad.mit.edu	37	chr6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccacctgccgaagattaCtcataatatgattttcttcc	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000237172.7	-	5	2837	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000393004.2_Missense_Mutation_p.S836N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	836										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGAAGATTACTCATAATATG	0.458																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2506-2508)aGt>aAt		filamin A interacting protein 1							138	153	148					6																	76023041		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023041C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2507G>A	6.37:g.76023041C>T	ENSP00000237172:p.Ser836Asn					FILIP1_ENST00000237172.7_Missense_Mutation_p.S836N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N	p.S836N			Q7Z7B0	FLIP1_HUMAN			5	2728	-			836					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2507G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569228	0.28003	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19250	2.17;2.17;2.16	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.52099	D	0.999946	B;B;B	0.27656	0.103;0.115;0.184	B;B;B	0.31101	0.031;0.058;0.124	T	0.06844	-1.0804	10	0.52906	T	0.07	-12.8369	14.5701	0.68205	0.0:0.9301:0.0:0.0699	.	836;836;836	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	836;836;737	ENSP00000376728:S836N;ENSP00000237172:S836N;ENSP00000359037:S737N	ENSP00000237172:S836N	S	-	2	0	FILIP1	76079761	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	3.921000	0.56454	1.410000	0.46936	-0.251000	0.11542	AGT		0.458	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		190	881	0	0	0	1	0	190	881					T	76023041	C	T	76023041	3	4	79	1	0	0	0	0	1	0	0	0	5919	565	20	2	1142	2	FILIP1	6	76023041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	76023041	95092026	7596	17913											
FILIP1	27145	broad.mit.edu	37	chr6	76023122	76023122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttcaccgctgactGcatcagtttggactccagtt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023122G>A	ENST00000237172.7	-	5	2756	c.2426C>T	c.(2425-2427)gCa>gTa	p.A809V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A809V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	809										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCGCTGACTGCATCAGTTTG	0.483																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2425-2427)gCa>gTa		filamin A interacting protein 1							140	147	145					6																	76023122		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023122G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2426C>T	6.37:g.76023122G>A	ENSP00000237172:p.Ala809Val					FILIP1_ENST00000237172.7_Missense_Mutation_p.A809V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V	p.A809V			Q7Z7B0	FLIP1_HUMAN			5	2647	-			809					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2426C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.132	-1.112103	0.01813	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19394	2.15;2.16;2.16	4.95	0.0472	0.14280	.	0.384981	0.26750	N	0.022690	T	0.03827	0.0108	L	0.27053	0.805	0.30672	N	0.753318	B;B;B	0.15141	0.012;0.005;0.009	B;B;B	0.17098	0.006;0.012;0.017	T	0.40232	-0.9574	10	0.28530	T	0.3	-5.6367	5.4874	0.16757	0.3465:0.0:0.5263:0.1272	.	809;809;809	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	809;809;710	ENSP00000376728:A809V;ENSP00000237172:A809V;ENSP00000359037:A710V	ENSP00000237172:A809V	A	-	2	0	FILIP1	76079842	0.680000	0.27605	0.039000	0.18376	0.042000	0.13812	0.949000	0.29109	0.086000	0.17137	-0.471000	0.05019	GCA		0.483	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		27	911	0	0	0	1	0	27	911					A	76023122	G	A	76023122	3	1	79	1	0	0	0	0	1	0	0	0	5919	1319	46	2	1223	2	FILIP1	6	76023122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	76023122	95091945	7597	17914											
FILIP1	27145	broad.mit.edu	37	chr6	76023250	76023250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagattgagaacctcctgCcccatgtttttgttcttatt	7	10	2	2	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000237172.7	-	5	2628	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000393004.2_Silent_p.G766G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	766										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACCTCCTGCCCCATGTTTT	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2296-2298)ggG>ggA		filamin A interacting protein 1							127	131	129					6																	76023250		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023250C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2298G>A	6.37:g.76023250C>T						FILIP1_ENST00000237172.7_Silent_p.G766G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.G667G	p.G766G			Q7Z7B0	FLIP1_HUMAN			5	2519	-			766					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2298G>A	CCDS4984.1																																																																																				0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		94	552	0	0	0	1	0	94	552					T	76023250	C	T	76023250	2	4	79	1	0	0	0	0	0	0	0	1	5919	726	26	2		2	FILIP1	6	76023250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	76023250	95091817	7598	17915											
FILIP1	27145	broad.mit.edu	37	chr6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttccacattctcctttgGcaattttatctcttaattct	3	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000237172.7	-	5	1430	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A367V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	367										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCTTTGGCAATTTTATC	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1099-1101)gCc>gTc		filamin A interacting protein 1							160	160	160					6																	76024448		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024448G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1100C>T	6.37:g.76024448G>A	ENSP00000237172:p.Ala367Val					FILIP1_ENST00000237172.7_Missense_Mutation_p.A367V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V	p.A367V			Q7Z7B0	FLIP1_HUMAN			5	1321	-			367					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1100C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580619	0.28180	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18338	2.22;2.22;2.22	5.65	5.65	0.86999	.	0.165064	0.56097	D	0.000031	T	0.07728	0.0194	N	0.25647	0.755	0.34645	D	0.721069	P;B;P	0.38922	0.651;0.415;0.551	B;B;B	0.36922	0.15;0.119;0.236	T	0.21042	-1.0257	10	0.25751	T	0.34	-18.1589	20.0965	0.97849	0.0:0.0:1.0:0.0	.	367;367;367	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	367;367;268	ENSP00000376728:A367V;ENSP00000237172:A367V;ENSP00000359037:A268V	ENSP00000237172:A367V	A	-	2	0	FILIP1	76081168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.824000	0.97209	0.655000	0.94253	GCC		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		146	713	0	0	0	1	0	146	713					A	76024448	G	A	76024448	3	1	79	1	0	0	0	0	1	0	0	0	5919	1203	42	2	2549	2	FILIP1	6	76024448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1198	76024448	95090619	7599	17916											
FILIP1	27145	broad.mit.edu	37	chr6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaatggcatctcggtGcaggacccgcagcactttct	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000237172.7	-	3	712	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000415457.2_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	128								p.H128N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCTCGGTGCAGGACCCGC	0.493																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.H128N(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(382-384)Cac>Tac		filamin A interacting protein 1							118	118	118					6																	76072528		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76072528G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.382C>T	6.37:g.76072528G>A	ENSP00000237172:p.His128Tyr					RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA	p.H128Y			Q7Z7B0	FLIP1_HUMAN			3	603	-			128					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.382C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049184	0.93740	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.051098	0.85682	D	0.000000	T	0.36276	0.0961	N	0.22421	0.69	0.80722	D	1	D;P;P	0.59767	0.986;0.941;0.927	P;P;P	0.53006	0.715;0.592;0.561	T	0.14531	-1.0469	10	0.54805	T	0.06	-19.3947	20.4777	0.99188	0.0:0.0:1.0:0.0	.	128;128;128	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	128;128;29	ENSP00000376728:H128Y;ENSP00000237172:H128Y;ENSP00000359037:H29Y	ENSP00000237172:H128Y	H	-	1	0	FILIP1	76129248	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.993000	0.88291	2.840000	0.97914	0.655000	0.94253	CAC		0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		82	440	0	0	0	1	0	82	440					A	76072528	G	A	76072528	3	1	79	1	0	0	0	0	1	0	0	0	5919	1319	46	2	3275	2	FILIP1	6	76072528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48080	76072528	95042539	7600	17917											
SENP6	26054	broad.mit.edu	37	chr6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaaaaaataaatcaTactgcgagtgaaaatgaaga	9	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000447266.2	+	19	3076	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	866	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATAAATCATACTGCGAGTG	0.358																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2596-2598)caT>caG		SUMO1/sentrin specific peptidase 6							124	123	124					6																	76412670		1834	4093	5927	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412670T>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2598T>G	6.37:g.76412670T>G	ENSP00000402527:p.His866Gln					SENP6_ENST00000447266.2_Missense_Mutation_p.H866Q|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q	p.H866Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3217	+		all_hematologic(105;0.189)	866			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2598T>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026728	0.07589	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.10763	2.84;2.84;2.84	5.85	0.5	0.16919	.	0.313789	0.35179	N	0.003387	T	0.01189	0.0039	N	0.11560	0.145	0.31730	N	0.637123	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.47420	-0.9119	10	0.27082	T	0.32	-7.1186	1.7865	0.03043	0.1332:0.1508:0.3504:0.3656	.	859;866	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	859;866;866	ENSP00000359027:H859Q;ENSP00000359031:H866Q;ENSP00000402527:H866Q	ENSP00000359027:H859Q	H	+	3	2	SENP6	76469390	0.998000	0.40836	0.976000	0.42696	0.868000	0.49771	0.292000	0.19011	0.142000	0.18901	-0.361000	0.07541	CAT		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		139	571	0	0	0	1	0	139	571					G	76412670	T	G	76412670	3	3	79	1	0	0	0	0	1	0	0	0	14100	1403	49	4	2672	4	SENP6	6	76412670	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	340142	76412670	94702397	7601	17918											
SENP6	26054	broad.mit.edu	37	chr6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcggtcaaatgttgTcaaaattttaagagagtaag	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000447266.2	+	22	3441	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000370014.3_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	988	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAAATGTTGTCAAAATTTTA	0.328																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2962-2964)gTc>gCc		SUMO1/sentrin specific peptidase 6							85	79	81					6																	76423282		1804	4068	5872	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76423282T>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2963T>C	6.37:g.76423282T>C	ENSP00000402527:p.Val988Ala					SENP6_ENST00000447266.2_Missense_Mutation_p.V988A|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A	p.V988A	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			22	3582	+		all_hematologic(105;0.189)	988			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2963T>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089070	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.32023	1.47;1.47;1.47	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000006	T	0.37320	0.0999	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.8692	14.0535	0.64751	0.0:0.0:0.0:1.0	.	981;988	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	A	981;988;988	ENSP00000359027:V981A;ENSP00000359031:V988A;ENSP00000402527:V988A	ENSP00000359027:V981A	V	+	2	0	SENP6	76480002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.731000	0.62022	1.785000	0.52413	0.377000	0.23210	GTC		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		71	357	0	0	0	1	0	71	357					C	76423282	T	C	76423282	3	2	79	1	0	0	0	0	1	0	0	0	14100	1667	58	4	3049	4	SENP6	6	76423282	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10612	76423282	94691785	7602	17919											
MYO6	4646	broad.mit.edu	37	chr6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccatggattgcccggCaaatggaactccatcctgac	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369977.3	+	34	3752	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1214					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATTGCCCGGCAAATGGAACT	0.463																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3616-3618)Caa>Taa		myosin VI							134	133	133					6																	76623953		2203	4300	6503	SO:0001587	stop_gained	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76623953C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3613C>T	6.37:g.76623953C>T	ENSP00000358994:p.Gln1205*					MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369977.3_Nonsense_Mutation_p.Q1205*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	p.Q1206*			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	34	3895	+		all_hematologic(105;0.189)	1214					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Nonsense_Mutation	SNP	ENST00000369977.3	37	c.3616C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	43	10.432314	0.99404	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8031	0.96516	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1206;1182;1205;1173	.	ENSP00000358992:Q1173X	Q	+	1	0	MYO6	76680673	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.462000	0.80851	2.672000	0.90937	0.655000	0.94253	CAA		0.463	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		136	682	0	0	0	1	0	136	682					T	76623953	C	T	76623953	4	4	79	1	0	0	0	0	0	1	0	0	10122	711	25	2	3743	2	MYO6	6	76623953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200671	76623953	94491114	7603	17920											
IMPG1	3617	broad.mit.edu	37	chr6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatagaactagtggtgataTactgtaaagctgagacagga	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGTGGTGATATACTGTAAAGC	0.502																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1672-1674)tAt>tGt		interphotoreceptor matrix proteoglycan 1							92	81	85					6																	76660430		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660430T>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1673A>G	6.37:g.76660430T>C	ENSP00000358966:p.Tyr558Cys					IMPG1_ENST00000369963.3_3'UTR	p.Y558C	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1862	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	558						Missense_Mutation	SNP	ENST00000369950.3	37	c.1673A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678671	0.68042	.	.	ENSG00000112706	ENST00000369950	T	0.22134	1.97	5.67	3.19	0.36642	.	0.225394	0.31415	N	0.007695	T	0.29061	0.0722	M	0.74258	2.255	0.46061	D	0.998847	D	0.71674	0.998	P	0.62740	0.906	T	0.06427	-1.0827	10	0.59425	D	0.04	.	11.2619	0.49089	0.2428:0.0:0.0:0.7572	.	558	Q17R60	IMPG1_HUMAN	C	558	ENSP00000358966:Y558C	ENSP00000358966:Y558C	Y	-	2	0	IMPG1	76717150	1.000000	0.71417	0.003000	0.11579	0.467000	0.32768	4.689000	0.61723	0.374000	0.24650	0.528000	0.53228	TAT		0.502	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		49	235	0	0	0	1	0	49	235					C	76660430	T	C	76660430	3	2	79	1	0	0	0	0	1	0	0	0	7758	1406	49	4	740	4	IMPG1	6	76660430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36477	76660430	94454637	7604	17921											
IMPG1	3617	broad.mit.edu	37	chr6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcacttgatcggctgTcatctgaagatgcaggtgga	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGATCGGCTGTCATCTGAAGA	0.512																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1513-1515)gAc>gGc		interphotoreceptor matrix proteoglycan 1							93	87	89					6																	76660589		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660589T>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1514A>G	6.37:g.76660589T>C	ENSP00000358966:p.Asp505Gly					IMPG1_ENST00000369963.3_3'UTR	p.D505G	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1703	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	505						Missense_Mutation	SNP	ENST00000369950.3	37	c.1514A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233902	0.22626	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	5.03	2.57	0.30868	.	0.426346	0.21631	N	0.071490	T	0.05318	0.0141	L	0.38175	1.15	0.18873	N	0.999987	B	0.12630	0.006	B	0.08055	0.003	T	0.30679	-0.9970	10	0.41790	T	0.15	.	6.2104	0.20626	0.0:0.1538:0.1359:0.7103	.	505	Q17R60	IMPG1_HUMAN	G	505	ENSP00000358966:D505G	ENSP00000358966:D505G	D	-	2	0	IMPG1	76717309	0.000000	0.05858	0.062000	0.19696	0.190000	0.23558	-0.053000	0.11846	0.852000	0.35287	0.528000	0.53228	GAC		0.512	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		49	209	0	0	0	1	0	49	209					C	76660589	T	C	76660589	3	2	79	1	0	0	0	0	1	0	0	0	7758	1667	58	4	899	4	IMPG1	6	76660589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	76660589	94454478	7605	17922											
IMPG1	3617	broad.mit.edu	37	chr6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcgatccagaaagatcCgatatgcttcccatactgct	9	11	0	2	rs200194885		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369950.3	-	3	521	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.R111Q(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAAAGATCCGATATGCTTC	0.488																																					Pancreas(37;839 1141 2599 26037)	ENST00000369963.3																			1	Substitution - Missense(1)	p.R111Q(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(97-99)cGg>cAg		interphotoreceptor matrix proteoglycan 1							92	83	86					6																	76744474		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744474C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.332G>A	6.37:g.76744474C>T	ENSP00000358966:p.Arg111Gln					IMPG1_ENST00000369950.3_Missense_Mutation_p.R111Q	p.R33Q			Q17R60	IMPG1_HUMAN			2	287	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	111						Missense_Mutation	SNP	ENST00000369950.3	37	c.98G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711068	0.96821	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.81163	-1.34;-1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	D	0.89382	0.6699	M	0.80982	2.52	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.88377	0.2999	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	111	Q17R60	IMPG1_HUMAN	Q	111;33	ENSP00000358966:R111Q;ENSP00000358980:R33Q	.	R	-	2	0	IMPG1	76801194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.720000	0.93068	0.557000	0.71058	CGG		0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		57	269	0	0	0	1	0	57	269					T	76744474	C	T	76744474	3	4	79	1	0	0	0	0	1	0	0	0	7758	652	23	1	2121	1	IMPG1	6	76744474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83885	76744474	94370593	7606	17923											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgacaaaggattttaGgagagtggaaaatgcttatc	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	116					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318																																						ENST00000369940.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12						c.(346-348)aGg>aAg		interleukin-1 receptor-associated kinase 1 binding protein 1							101	110	107					6																	79595126		2203	4299	6502	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79595126G>A	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.347G>A	6.37:g.79595126G>A	ENSP00000358956:p.Arg116Lys					IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	p.R116K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	2	452	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	116						Missense_Mutation	SNP	ENST00000369940.2	37	c.347G>A	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	g	8.962	0.970850	0.18659	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.28	3.34	0.38264	.	0.370642	0.29015	N	0.013412	T	0.06234	0.0161	N	0.12182	0.205	0.25863	N	0.983809	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	8	.	.	.	.	6.8345	0.23929	0.0998:0.178:0.7222:0.0	.	116	Q5VVH5	IKBP1_HUMAN	K	116	.	.	R	+	2	0	IRAK1BP1	79651845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.289000	0.51747	1.188000	0.43014	0.650000	0.86243	AGG		0.318	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		62	340	0	0	0	1	0	62	340					A	79595126	G	A	79595126	3	1	79	1	0	0	0	0	1	0	0	0	7852	1000	35	2	353	2	IRAK1BP1	6	79595126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850652	79595126	91519941	7607	17924											
PHIP	55023	broad.mit.edu	37	chr6	79650542	79650542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagagtcatcctcattAtagaaagctgtccttcgacc	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1778					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCCTCATTATAGAAAGCTG	0.428																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(5332-5334)taT>taC		pleckstrin homology domain interacting protein							586	577	580					6																	79650542		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650542A>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5334T>C	6.37:g.79650542A>G						PHIP_ENST00000479165.1_5'UTR	p.Y1778Y	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5501	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1778					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.5334T>C	CCDS4987.1																																																																																				0.428	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			82	365	0	0	0	1	0	82	365					G	79650542	A	G	79650542	2	3	79	1	0	0	0	0	0	0	0	1	11884	456	16	4		4	PHIP	6	79650542	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55416	79650542	91464525	7608	17925											
PHIP	55023	broad.mit.edu	37	chr6	79655978	79655978	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttttcctttcagggCtgtaaataaaatagtattgt	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCTTTCAGGGCTGTAAATAAA	0.328																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e38-1		pleckstrin homology domain interacting protein							131	136	134					6																	79655978		2203	4300	6503	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655978C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4371-1G>T	6.37:g.79655978C>A						PHIP_ENST00000479165.1_Splice_Site		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4538	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)						A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37		CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668108	0.67814	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHIP	79712697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.343000	0.65976	2.941000	0.99782	0.655000	0.94253	.		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Intron	85	488	1	0	2.05912e-35	1	2.45818e-35	85	488					A	79655978	C	A	79655978	5	1	79	1	0	0	0	0	0	0	1	0	11884	811	28	3	1107	3	PHIP	6	79655978	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5436	79655978	91459089	7609	17926											
PHIP	55023	broad.mit.edu	37	chr6	79657339	79657339	+	Splice_Site	DEL	C	C	-													gaaaataatgtaattatataCccttgatcttttgcttggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79657339delC	ENST00000275034.4	-	36	4374		c.e36+1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATTATATACCCTTGATCTT	0.299																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e36+1		pleckstrin homology domain interacting protein							93	92	92					6																	79657339		2203	4300	6503	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79657339delC	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4206+1G>-	6.37:g.79657339delC						PHIP_ENST00000479165.1_Splice_Site		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4374	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)						A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	DEL	ENST00000275034.4	37		CCDS4987.1																																																																																				0.299	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Intron	9	210						9	210	---	---	---	---	-	79657339	C	-	79657339	8	5	79	1	0	1	0	1	0	0	1	0	11884	521	18	0	1278	0	PHIP	6	79657339	Splice_Site	DEL	C	TCGA-IB-7651-01A-11D-2154-08	1361	79657339	91457728	7610	17927											
PHIP	55023	broad.mit.edu	37	chr6	79671415	79671415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggttctaacctgtaaaaCctgttttccagtctttgttt	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1216	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCTGTAAAACCTGTTTTCCA	0.408																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3646-3648)agG>agA		pleckstrin homology domain interacting protein							127	112	117					6																	79671415		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79671415C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3648G>A	6.37:g.79671415C>T						PHIP_ENST00000479165.1_5'UTR	p.R1216R	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	31	3815	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1216			Bromo 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3648G>A	CCDS4987.1																																																																																				0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			39	182	0	0	0	1	0	39	182					T	79671415	C	T	79671415	2	4	79	1	0	0	0	0	0	0	0	1	11884	506	18	2		2	PHIP	6	79671415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14076	79671415	91443652	7611	17928											
PHIP	55023	broad.mit.edu	37	chr6	79692681	79692681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttacttttttcttttcCtttttaatctgtttttgctt	2	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	897	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ttttcttttcctttttaatct	0.308																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2689-2691)aaG>aaA		pleckstrin homology domain interacting protein							70	66	68					6																	79692681		2203	4299	6502	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79692681C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2691G>A	6.37:g.79692681C>T							p.K897K	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	23	2858	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	897			Lys-rich.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.2691G>A	CCDS4987.1																																																																																				0.308	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			27	157	0	0	0	1	0	27	157					T	79692681	C	T	79692681	2	4	79	1	0	0	0	0	0	0	0	1	11884	680	24	2		2	PHIP	6	79692681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21266	79692681	91422386	7612	17929											
PHIP	55023	broad.mit.edu	37	chr6	79724895	79724895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaactctaggatcgaaCgggtgtggttcaagaacaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	476					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGGATCGAACGGGTGTGGTT	0.353																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1426-1428)ccG>ccA		pleckstrin homology domain interacting protein							102	93	96					6																	79724895		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79724895C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1428G>A	6.37:g.79724895C>T							p.P476P	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	15	1595	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	476					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.1428G>A	CCDS4987.1																																																																																				0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			35	202	0	0	0	1	0	35	202					T	79724895	C	T	79724895	2	4	79	1	0	0	0	0	0	0	0	1	11884	523	19	1		1	PHIP	6	79724895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32214	79724895	91390172	7613	17930											
LCA5	167691	broad.mit.edu	37	chr6	80197365	80197365	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcaaaacagggtattttaGatttcgagaatcttggagtt	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	484					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGGTATTTTAGATTTCGAGAA	0.388																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1450-1452)Cta>Tta		Leber congenital amaurosis 5							141	141	141					6																	80197365		2203	4299	6502	SO:0001819	synonymous_variant	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197365G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1450C>T	6.37:g.80197365G>A						LCA5_ENST00000369846.4_Silent_p.L484L	p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2061	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	484					E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	c.1450C>T	CCDS4990.1																																																																																				0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		34	758	0	0	0	1	0	34	758					A	80197365	G	A	80197365	2	1	79	1	0	0	0	0	0	0	0	1	8687	933	33	2		2	LCA5	6	80197365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472470	80197365	90917702	7614	17931											
LCA5	167691	broad.mit.edu	37	chr6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcaacctcctgttttaCgacatggagttcttcatctg	6	11	4	0	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000467898.3_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	401					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGTTTTACGACATGGAGT	0.403																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1201-1203)Gta>Ata		Leber congenital amaurosis 5		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167	160	162		1201,1201	0.6	0	6	dbSNP_134	162	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LCA5	NM_001122769.2,NM_181714.3	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	401/698,401/698	80198831	3,13003	2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80198831C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1201G>A	6.37:g.80198831C>T	ENSP00000376686:p.Val401Ile					LCA5_ENST00000467898.2_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	1812	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	401					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1201G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634144	0.14322	2.27E-4	2.33E-4	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.29	0.64	0.17752	.	1.834740	0.02223	N	0.064199	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.14062	-1.0486	10	0.33940	T	0.23	-1.0538	4.2696	0.10780	0.2156:0.3739:0.0:0.4106	.	401	Q86VQ0	LCA5_HUMAN	I	401	ENSP00000358861:V401I;ENSP00000376686:V401I	ENSP00000358861:V401I	V	-	1	0	LCA5	80255550	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-0.074000	0.11450	0.115000	0.18071	-0.123000	0.14984	GTA		0.403	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		77	481	0	0	0	1	0	77	481					T	80198831	C	T	80198831	3	4	79	1	0	0	0	0	1	0	0	0	8687	536	19	1	900	1	LCA5	6	80198831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1466	80198831	90916236	7615	17932											
TTK	7272	broad.mit.edu	37	chr6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgattcctgtgaattaagaAatttaaaggtattttaattc	6	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000369798.2	+	9	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000230510.3_Missense_Mutation_p.N326H|TTK_ENST00000509894.1_Missense_Mutation_p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	326					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358																																						ENST00000509894.1																			2	Substitution - Missense(2)	p.N310H(1)|p.N326H(1)	lung(2)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(976-978)Aat>Cat		TTK protein kinase							74	87	82					6																	80723075		2202	4294	6496	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80723075A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.976A>C	6.37:g.80723075A>C	ENSP00000358813:p.Asn326His					TTK_ENST00000369798.2_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H	p.N326H			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	9	1805	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	326					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.976A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	TTK	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT		0.358	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			187	683	0	0	0	1	0	187	683					C	80723075	A	C	80723075	3	2	79	1	0	0	0	0	1	0	0	0	16774	14	1	4	1006	4	TTK	6	80723075	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	524244	80723075	90391992	7616	17933											
BCKDHB	594	broad.mit.edu	37	chr6	80912929	80912929	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggacacaatttgtaaGgtatgaatataatggtgata	11	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000356489.5_Splice_Site_p.K317N|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	317					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.e8+1		branched chain keto acid dehydrogenase E1, beta polypeptide							115	115	115					6																	80912929		2203	4300	6503	SO:0001630	splice_region_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80912929G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.951+1G>T	6.37:g.80912929G>T						BCKDHB_ENST00000356489.5_Splice_Site_p.K317_splice|BCKDHB_ENST00000545529.1_3'UTR	p.K317_splice	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	8	998	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	317					Q5T2J3|Q9BQL0	Splice_Site	SNP	ENST00000320393.6	37	c.951_splice	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743814	0.30865	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91295	-2.82;-2.82	5.92	5.06	0.68205	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.043164	0.85682	D	0.000000	T	0.72787	0.3504	N	0.20328	0.56	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.69383	-0.5160	10	0.25751	T	0.34	-18.8136	11.0312	0.47774	0.0849:0.0:0.9151:0.0	.	317	P21953	ODBB_HUMAN	N	317;317;247	ENSP00000318351:K317N;ENSP00000348880:K317N	ENSP00000318351:K317N	K	+	3	2	BCKDHB	80969648	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.117000	0.77129	1.518000	0.48934	-0.136000	0.14681	AAG		0.368	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	Missense_Mutation	56	301	1	0	2.93687e-30	1	3.44351e-30	56	301					T	80912929	G	T	80912929	5	4	79	1	0	0	0	0	0	0	1	0	1361	1014	35	3	981	3	BCKDHB	6	80912929	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189854	80912929	90202138	7617	17934											
UBE2CBP	90025	broad.mit.edu	37	chr6	83754249	83754249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattcaccaagaagaaagaGtctccaataaaacagtcatt	5	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83754249G>T	ENST00000369747.3	-	4	617	c.495C>A	c.(493-495)gaC>gaA	p.D165E		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	165					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										AGAAGAAAGAGTCTCCAATAA	0.428																																						ENST00000369747.3																			0											c.(493-495)gaC>gaA		ubiquitin protein ligase E3D							135	147	143					6																	83754249		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83754249G>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.495C>A	6.37:g.83754249G>T	ENSP00000358762:p.Asp165Glu						p.D165E	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			4	617	-			165					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.495C>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751081	0.69533	.	.	ENSG00000118420	ENST00000369747	T	0.32272	1.46	5.63	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.74258	2.255	0.80722	D	1	D;D	0.71674	0.998;0.957	D;P	0.67725	0.953;0.545	T	0.24476	-1.0159	10	0.16420	T	0.52	-3.3466	11.6588	0.51334	0.1862:0.0:0.8138:0.0	.	165;165	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	E	165	ENSP00000358762:D165E	ENSP00000358762:D165E	D	-	3	2	UBE2CBP	83810968	1.000000	0.71417	0.959000	0.39883	0.946000	0.59487	1.037000	0.30241	0.305000	0.22832	0.655000	0.94253	GAC		0.428	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		134	586	1	0	1.31343e-73	1	1.67213e-73	134	586					T	83754249	G	T	83754249	3	4	79	1	0	0	0	0	1	0	0	0	16901	1020	36	3	702	3	UBE2CBP	6	83754249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2841320	83754249	87360818	7618	17935											
DOPEY1	23033	broad.mit.edu	37	chr6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttgaaacatatgaaaTtatcttcaaaataattggac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	89					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATATGAAATTATCTTCAAA	0.338																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(265-267)aTt>aGt		dopey family member 1							152	166	161					6																	83810551		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83810551T>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.266T>G	6.37:g.83810551T>G	ENSP00000195654:p.Ile89Ser					DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	526	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	89					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.266T>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890540	0.72524	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.24538	1.87;1.86;1.85	5.17	5.17	0.71159	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.997	T	0.02885	-1.1098	10	0.32370	T	0.25	.	15.285	0.73822	0.0:0.0:0.0:1.0	.	89;89;89	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	89	ENSP00000195654:I89S;ENSP00000237163:I89S;ENSP00000358754:I89S	ENSP00000237163:I89S	I	+	2	0	DOPEY1	83867270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.602000	0.82796	2.071000	0.62044	0.482000	0.46254	ATT		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		210	963	0	0	0	1	0	210	963					G	83810551	T	G	83810551	3	3	79	1	0	0	0	0	1	0	0	0	4723	1493	52	4	272	4	DOPEY1	6	83810551	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56302	83810551	87304516	7619	17936											
DOPEY1	23033	broad.mit.edu	37	chr6	83848714	83848714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgagctttgcatcagcaCtgtgcatgtaagatgcaccc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000237163.5_Silent_p.H1632H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1651					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCATCAGCACTGTGCATGTA	0.458																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4951-4953)caC>caT		dopey family member 1							139	114	122					6																	83848714		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83848714C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4953C>T	6.37:g.83848714C>T						DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000237163.5_Silent_p.H1632H|DOPEY1_ENST00000484282.1_3'UTR	p.H1651H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5213	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1651					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.4953C>T	CCDS4996.1																																																																																				0.458	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		87	293	0	0	0	1	0	87	293					T	83848714	C	T	83848714	2	4	79	1	0	0	0	0	0	0	0	1	4723	564	20	2		2	DOPEY1	6	83848714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38163	83848714	87266353	7620	17937											
DOPEY1	23033	broad.mit.edu	37	chr6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgagagtctccgtttgCcacaggtgccaactctccat	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2211					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTCCGTTTGCCACAGGTGCC	0.393																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6631-6633)Cca>Tca		dopey family member 1							150	137	141					6																	83866927		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83866927C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6631C>T	6.37:g.83866927C>T	ENSP00000195654:p.Pro2211Ser					DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR	p.P2211S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	35	6891	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2211					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6631C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428600	0.43122	.	.	ENSG00000083097	ENST00000349129	T	0.39592	1.07	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.35487	1.065	0.80722	D	1	B;P;B	0.39665	0.107;0.682;0.086	B;B;B	0.33890	0.017;0.172;0.013	T	0.02797	-1.1109	10	0.25751	T	0.34	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2102;2202;2211	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	2211	ENSP00000195654:P2211S	ENSP00000195654:P2211S	P	+	1	0	DOPEY1	83923646	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CCA		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		80	378	0	0	0	1	0	80	378					T	83866927	C	T	83866927	3	4	79	1	0	0	0	0	1	0	0	0	4723	739	26	2	6761	2	DOPEY1	6	83866927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18213	83866927	87248140	7621	17938											
DOPEY1	23033	broad.mit.edu	37	chr6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcaccatctgcaccGtgcgcagtatggagcagctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000349129.2	+	39	7428	c.7168G>A	c.(7168-7170)Gtg>Atg	p.V2390M	DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2390					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATCTGCACCGTGCGCAGTAT	0.512																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(7168-7170)Gtg>Atg		dopey family member 1							63	56	58					6																	83877656		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83877656G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7168G>A	6.37:g.83877656G>A	ENSP00000195654:p.Val2390Met					DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|PGM3_ENST00000512866.1_Intron|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR	p.V2390M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	39	7428	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2390					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.7168G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401973	0.25291	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.51574	0.7;1.68	5.76	4.88	0.63580	.	0.118362	0.56097	N	0.000021	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15473	0.013;0.011;0.011	B;B;B	0.08055	0.003;0.003;0.003	T	0.07481	-1.0770	10	0.54805	T	0.06	.	9.5589	0.39357	0.1621:0.0:0.8379:0.0	.	2281;2381;2390	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	M	2390;2294;2294	ENSP00000195654:V2390M;ENSP00000237163:V2294M	ENSP00000237163:V2294M	V	+	1	0	DOPEY1	83934375	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	4.475000	0.60210	1.413000	0.46997	0.655000	0.94253	GTG		0.512	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		43	168	0	0	0	1	0	43	168					A	83877656	G	A	83877656	3	1	79	1	0	0	0	0	1	0	0	0	4723	1145	40	1	7314	1	DOPEY1	6	83877656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10729	83877656	87237411	7622	17939											
PGM3	5238	broad.mit.edu	37	chr6	83885690	83885690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaacttacagtgccatgCccatttgcttcaaaataaac	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000283977.4	-	8	1002	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000513973.1_Silent_p.G373G					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1117-1119)ggG>ggA		phosphoglucomutase 3							129	117	121					6																	83885690		2203	4300	6503	SO:0001819	synonymous_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83885690C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.876G>A	6.37:g.83885690C>T						PGM3_ENST00000283977.4_Silent_p.G292G|PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000506587.1_Silent_p.G401G	p.G373G	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	9	1235	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	373						Silent	SNP	ENST00000283977.4	37	c.1119G>A																																																																																					0.368	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		48	211	0	0	0	1	0	48	211					T	83885690	C	T	83885690	2	4	79	1	0	0	0	0	0	0	0	1	11842	726	26	2		2	PGM3	6	83885690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8034	83885690	87229377	7623	17940											
PGM3	112611	broad.mit.edu	37	chr6	83900687	83900687	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggatcagtccattgggCttggcgtgtaatgctgagta	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83900687C>A	ENST00000369724.4	+	0	0				RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.K15N|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N|PGM3_ENST00000513973.1_Missense_Mutation_p.K15N	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A											cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTCCATTGGGCTTGGCGTGTA	0.393																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(43-45)aaG>aaT		phosphoglucomutase 3							161	141	148					6																	83900687		2203	4300	6503	SO:0001631	upstream_gene_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83900687C>A	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900687C>A	Exception_encountered					PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.K15N|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N	p.K15N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	2	161	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	15					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.45G>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747986	0.49257	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;T	0.48201	0.85;0.84;0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90483	3.12	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.62649	0.905;0.837	T	0.70605	-0.4826	10	0.46703	T	0.11	-16.0693	15.1568	0.72749	0.0:0.9308:0.0:0.0692	.	43;15	E9PF86;O95394	.;AGM1_HUMAN	N	15;15;43;15;43;43	ENSP00000424874:K15N;ENSP00000421565:K15N;ENSP00000425809:K43N	ENSP00000422362:K43N	K	-	3	2	PGM3	83957406	0.991000	0.36638	1.000000	0.80357	0.186000	0.23388	0.307000	0.19296	2.706000	0.92434	0.655000	0.94253	AAG		0.393	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		72	351	1	0	1.2582e-26	1	1.451e-26	72	351					A	83900687	C	A	83900687	1	1	79	0	1	0	0	0	0	0	0	0	11842	796	28	3		3	PGM3	6	83900687	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14997	83900687	87214380	7624	17941											
ME1	4199	broad.mit.edu	37	chr6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttgctagttggattaCtcaaagcaaaaataataggc	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	407					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGTTGGATTACTCAAAGCAAA	0.333																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1219-1221)aGt>aAt		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						82	78	79					6																	83937109		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83937109C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1220G>A	6.37:g.83937109C>T	ENSP00000358719:p.Ser407Asn					ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	p.S407N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	11	1336	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	407					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1220G>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402015	0.96030	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87963	0.2731	10	0.87932	D	0	-25.9458	20.4144	0.99026	0.0:1.0:0.0:0.0	.	407	P48163	MAOX_HUMAN	N	407;67;241;332	ENSP00000358719:S407N;ENSP00000439912:S241N;ENSP00000446114:S332N	ENSP00000358719:S407N	S	-	2	0	ME1	83993828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.833000	0.97629	0.555000	0.69702	AGT		0.333	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			12	244	0	0	0	1	0	12	244					T	83937109	C	T	83937109	3	4	79	1	0	0	0	0	1	0	0	0	9458	565	20	2	514	2	ME1	6	83937109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36422	83937109	87177958	7625	17942											
ME1	4199	broad.mit.edu	37	chr6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcaccaccaattgcagCaactcctaatgaagaaatat	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	380					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCAATTGCAGCAACTCCTAAT	0.368																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1138-1140)Gct>Act		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						101	97	98					6																	83937191		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83937191C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1138G>A	6.37:g.83937191C>T	ENSP00000358719:p.Ala380Thr					ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	p.A380T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	11	1254	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	380					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1138G>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107717	0.94292	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.87	5.87	0.94306	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.55990	1.75	0.80722	D	1	D	0.54207	0.965	P	0.46629	0.522	T	0.05550	-1.0878	10	0.62326	D	0.03	-22.7069	20.1944	0.98239	0.0:1.0:0.0:0.0	.	380	P48163	MAOX_HUMAN	T	380;40;214;305	ENSP00000358719:A380T;ENSP00000439912:A214T;ENSP00000446114:A305T	ENSP00000358719:A380T	A	-	1	0	ME1	83993910	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.628000	0.83189	2.777000	0.95525	0.555000	0.69702	GCT		0.368	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			59	362	0	0	0	1	0	59	362					T	83937191	C	T	83937191	3	4	79	1	0	0	0	0	1	0	0	0	9458	710	25	2	596	2	ME1	6	83937191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	83937191	87177876	7626	17943											
PRSS35	167681	broad.mit.edu	37	chr6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcagaaggactacaacGttgctgttcgcatcactccc	10	12	2	1	rs375255168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000369700.3	+	2	1336	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	387	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1159-1161)Gtt>Att		protease, serine, 35		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73	57	63		1159,1159	5.9	1	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS35	NM_001170423.1,NM_153362.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	387/414,387/414	84234319	1,13005	2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234319G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1159G>A	6.37:g.84234319G>A	ENSP00000358714:p.Val387Ile					PRSS35_ENST00000369700.3_Missense_Mutation_p.V387I	p.V387I	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1504	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	387			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1159G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210808	0.95069	0.0	1.16E-4	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65113	-0.6247	10	0.72032	D	0.01	-20.4384	20.2946	0.98546	0.0:0.0:1.0:0.0	.	387	Q8N3Z0	PRS35_HUMAN	I	387	ENSP00000440870:V387I;ENSP00000358714:V387I	ENSP00000358714:V387I	V	+	1	0	PRSS35	84291038	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GTT		0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		52	227	0	0	0	1	0	52	227					A	84234319	G	A	84234319	3	1	79	1	0	0	0	0	1	0	0	0	12671	1145	40	1	1161	1	PRSS35	6	84234319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297128	84234319	86880748	7627	17944											
SNAP91	9892	broad.mit.edu	37	chr6	84269857	84269857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcagctccaaaggggGgcctcatcatgggctgtgca	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84269857G>T	ENST00000439399.2	-	28	2913	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000428679.2_Missense_Mutation_p.P866H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	866	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCAAAGGGGGGCCTCATCAT	0.517																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2596-2598)cCc>cAc		synaptosomal-associated protein, 91kDa							69	70	70					6																	84269857		1957	4149	6106	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84269857G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2597C>A	6.37:g.84269857G>T	ENSP00000400459:p.Pro866His					SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000439399.2_Missense_Mutation_p.P866H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H	p.P866H			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	28	3190	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	866			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2597C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632886	0.87660	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.39406	1.37;1.36;1.36;1.37;1.36;1.67;1.36;1.36;1.67;1.08	5.75	5.75	0.90469	.	0.098291	0.64402	D	0.000001	T	0.63331	0.2502	M	0.79123	2.44	0.39244	D	0.963901	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.996;0.996;0.996	T	0.66775	-0.5838	10	0.87932	D	0	-11.0891	19.9525	0.97208	0.0:0.0:1.0:0.0	.	742;559;836;866;864	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	H	861;866;866;861;866;559;836;866;559;207	ENSP00000429776:P861H;ENSP00000358708:P866H;ENSP00000400459:P866H;ENSP00000195649:P861H;ENSP00000412492:P866H;ENSP00000413277:P559H;ENSP00000428511:P836H;ENSP00000428215:P866H;ENSP00000428026:P559H;ENSP00000430255:P207H	ENSP00000195649:P861H	P	-	2	0	SNAP91	84326576	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.900000	0.87376	2.719000	0.93026	0.655000	0.94253	CCC		0.517	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			9	355	1	0	2.17888e-05	1	2.22852e-05	9	355					T	84269857	G	T	84269857	3	4	79	1	0	0	0	0	1	0	0	0	14883	1232	43	3	134	3	SNAP91	6	84269857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35538	84269857	86845210	7628	17945											
SNAP91	9892	broad.mit.edu	37	chr6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggaggcagaagctgagGcagttgcaatttcagcagtt	14	6	1	2	rs186370272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000439399.2	-	16	1575	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	420	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGAAGCTGAGGCAGTTGCAAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.001	False		,,,				2504	0.0					ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1258-1260)gCc>gTc		synaptosomal-associated protein, 91kDa							103	103	103					6																	84311055		1959	4148	6107	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84311055G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1259C>T	6.37:g.84311055G>A	ENSP00000400459:p.Ala420Val					SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A420V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron	p.A420V			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	16	1852	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	420			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1259C>T	CCDS47455.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516264	0.44763	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.16324	2.38;2.38;2.38;2.38;2.35;2.37;2.38	5.46	5.46	0.80206	.	0.531595	0.22220	N	0.062961	T	0.06462	0.0166	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34103	0.437;0.437;0.025	B;B;B	0.24541	0.037;0.054;0.021	T	0.21965	-1.0230	10	0.18276	T	0.48	-4.3839	17.8828	0.88845	0.0:0.0:1.0:0.0	.	418;420;418	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	V	420;420;420;420;420;418;420;146	ENSP00000429776:A420V;ENSP00000358708:A420V;ENSP00000400459:A420V;ENSP00000195649:A420V;ENSP00000412492:A420V;ENSP00000428511:A418V;ENSP00000428215:A420V	ENSP00000195649:A420V	A	-	2	0	SNAP91	84367774	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	8.735000	0.91549	2.570000	0.86706	0.563000	0.77884	GCC		0.463	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			30	120	0	0	0	1	0	30	120					A	84311055	G	A	84311055	3	1	79	1	0	0	0	0	1	0	0	0	14883	1203	42	2	1520	2	SNAP91	6	84311055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41198	84311055	86804012	7629	17946											
SNAP91	9892	broad.mit.edu	37	chr6	84417642	84417642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccgtgagcgtttggcccGacatcttctgtggtcgcgtc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	ENST00000439399.2	-	2	321	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000428679.2_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	2					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CGTTTGGCCCGACATCTTCTG	0.587																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(4-6)tCg>tTg		synaptosomal-associated protein, 91kDa							53	58	56					6																	84417642		1981	4164	6145	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417642G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.5C>T	6.37:g.84417642G>A	ENSP00000400459:p.Ser2Leu					SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L	p.S2L			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	598	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	2					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.5C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986026	0.93044	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T	0.37411	1.87;1.87;1.87;1.87;1.86;2.13;1.94;1.87;2.13;1.2	5.36	5.36	0.76844	.	0.118037	0.64402	D	0.000011	T	0.56307	0.1976	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75484	0.986;0.968;0.968	T	0.61153	-0.7120	10	0.87932	D	0	-3.8263	19.0968	0.93255	0.0:0.0:1.0:0.0	.	2;2;2	O60641-3;E5RI02;E1P549	.;.;.	L	2	ENSP00000429776:S2L;ENSP00000358708:S2L;ENSP00000400459:S2L;ENSP00000195649:S2L;ENSP00000412492:S2L;ENSP00000413277:S2L;ENSP00000428511:S2L;ENSP00000428215:S2L;ENSP00000428026:S2L;ENSP00000430071:S2L	ENSP00000195649:S2L	S	-	2	0	SNAP91	84474361	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.860000	0.99555	2.516000	0.84829	0.462000	0.41574	TCG		0.587	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			60	181	0	0	0	1	0	60	181					A	84417642	G	A	84417642	3	1	79	1	0	0	0	0	1	0	0	0	14883	1059	37	1	2826	1	SNAP91	6	84417642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106587	84417642	86697425	7630	17947											
RIPPLY2	134701	broad.mit.edu	37	chr6	84566960	84566960	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgttgtctgcttctttcaGactattttggccaaaatcaa	6	9	4	1	rs374534967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		RIPPLY2_ENST00000369687.1_Splice_Site|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289																																						ENST00000369689.1																			0				large_intestine(2)|lung(4)|urinary_tract(1)	7						c.e4-1		ripply transcriptional repressor 2		G		0,4404		0,0,2202	62	67	65			5.5	1	6		65	1,8589	1.2+/-3.3	0,1,4294	no	splice-3	RIPPLY2	NM_001009994.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077			84566960	1,12993	2202	4295	6497	SO:0001630	splice_region_variant	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84566960G>A	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.240-1G>A	6.37:g.84566960G>A						RIPPLY2_ENST00000369687.1_Splice_Site		NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN			4	390	+								Q5TAB6	Splice_Site	SNP	ENST00000369689.1	37		CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	0.0	1.16E-4	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIPPLY2	84623679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.729000	0.91490	2.879000	0.98667	0.650000	0.86243	.		0.289	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	Intron	44	227	0	0	0	1	0	44	227					A	84566960	G	A	84566960	5	1	79	1	0	0	0	0	0	0	1	0	13435	956	33	2	253	2	RIPPLY2	6	84566960	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149318	84566960	86548107	7631	17948											
MRAP2	112609	broad.mit.edu	37	chr6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcagactttggaagaCctctggagccagataaagta	11	7	2	3	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	97					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433																																						ENST00000257776.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(289-291)Cct>Act		melanocortin 2 receptor accessory protein 2							89	90	90					6																	84798871		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84798871C>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.289C>A	6.37:g.84798871C>A	ENSP00000257776:p.Pro97Thr						p.P97T	NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN			4	424	+			97					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.289C>A	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785756	0.70337	.	.	ENSG00000135324	ENST00000257776	D	0.88741	-2.42	5.18	5.18	0.71444	.	0.274181	0.36034	N	0.002832	T	0.77877	0.4196	L	0.38531	1.155	0.42806	D	0.99394	B	0.30851	0.297	B	0.27262	0.078	T	0.80254	-0.1459	10	0.56958	D	0.05	-5.0941	13.9655	0.64207	0.1516:0.8483:0.0:0.0	.	97	Q96G30	MRAP2_HUMAN	T	97	ENSP00000257776:P97T	ENSP00000257776:P97T	P	+	1	0	MRAP2	84855590	0.986000	0.35501	0.992000	0.48379	0.996000	0.88848	3.005000	0.49521	2.589000	0.87451	0.655000	0.94253	CCT		0.433	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		102	364	1	0	9.4957e-49	1	1.17268e-48	102	364					A	84798871	C	A	84798871	3	1	79	1	0	0	0	0	1	0	0	0	9795	507	18	3	299	3	MRAP2	6	84798871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231911	84798871	86316196	7632	17949											
KIAA1009	22832	broad.mit.edu	37	chr6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgaacacatacttgtcGctccagatcctgaatttttt	5	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATACTTGTCGCTCCAGATCC	0.373																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2776-2778)Cga>Tga		KIAA1009							159	154	156					6																	84870536		2202	4300	6502	SO:0001587	stop_gained	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84870536G>A																												ENST00000403245.3:c.2776C>T	6.37:g.84870536G>A	ENSP00000385215:p.Arg926*					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	p.R926*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	21	2890	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	926						Nonsense_Mutation	SNP	ENST00000403245.3	37	c.2776C>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	42	9.529168	0.99196	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.87	4.01	0.46588	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9369	14.7397	0.69445	0.0:0.0:0.7178:0.2822	.	.	.	.	X	850;926	.	ENSP00000257766:R850X	R	-	1	2	KIAA1009	84927255	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.088000	0.50175	0.735000	0.32537	0.655000	0.94253	CGA		0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			33	337	0	0	0	1	0	33	337					A	84870536	G	A	84870536	4	1	79	1	0	0	0	0	0	1	0	0	8233	1095	38	1	1463	1	KIAA1009	6	84870536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71665	84870536	86244531	7633	17950											
KIAA1009	22832	broad.mit.edu	37	chr6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtaaaattctgatttcTtgtgggctctgaatcttcaa	7	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTGATTTCTTGTGGGCTCT	0.318																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2338-2340)Aga>Gga		KIAA1009							73	68	70					6																	84879094		2202	4299	6501	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84879094T>C																												ENST00000403245.3:c.2338A>G	6.37:g.84879094T>C	ENSP00000385215:p.Arg780Gly					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	p.R780G	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	18	2452	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	780						Missense_Mutation	SNP	ENST00000403245.3	37	c.2338A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520900	0.44866	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32515	1.45;1.45	5.96	4.79	0.61399	.	0.320498	0.31167	N	0.008138	T	0.14184	0.0343	L	0.40543	1.245	0.25363	N	0.988764	P	0.39480	0.675	B	0.43658	0.426	T	0.13229	-1.0517	10	0.20519	T	0.43	-7.1047	12.6876	0.56956	0.0:0.0:0.1379:0.8621	.	780	Q5TB80	QN1_HUMAN	G	704;780	ENSP00000257766:R704G;ENSP00000385215:R780G	ENSP00000257766:R704G	R	-	1	2	KIAA1009	84935813	0.881000	0.30235	0.732000	0.30844	0.971000	0.66376	3.972000	0.56838	1.064000	0.40671	0.460000	0.39030	AGA		0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			9	25	0	0	0	1	0	9	25					C	84879094	T	C	84879094	3	2	79	1	0	0	0	0	1	0	0	0	8233	1617	56	4	1913	4	KIAA1009	6	84879094	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8558	84879094	86235973	7634	17951											
TBX18	9096	broad.mit.edu	37	chr6	85473690	85473690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggagcgcagcgccttcGtctccctcagaagaaccctt	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(208-210)gaC>gaT		T-box 18							4	5	5					6																	85473690		1979	3992	5971	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85473690G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.210C>T	6.37:g.85473690G>A							p.D70D	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	1	547	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	70					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.210C>T	CCDS34495.1																																																																																				0.756	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		18	45	0	0	0	1	0	18	45					A	85473690	G	A	85473690	2	1	79	1	0	0	0	0	0	0	0	1	15705	1136	40	1		1	TBX18	6	85473690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594596	85473690	85641377	7635	17952											
NT5E	4907	broad.mit.edu	37	chr6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctagatccaagcataaaAgcagacattaacaaatggag	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	321					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(961-963)aaA>aaT		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						88	91	90					6																	86197066		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197066A>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.963A>T	6.37:g.86197066A>T	ENSP00000257770:p.Lys321Asn					NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1012	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	321					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.963A>T	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.08|16.08	3.022934|3.022934	0.54683|0.54683	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	T;T|T;T	0.57752|0.56776	0.45;0.38|0.44;0.45	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.169287|0.169287	0.52532|0.52532	D|D	0.000063|0.000063	T|T	0.37293|0.37293	0.0998|0.0998	M|M	0.64997|0.64997	1.995|1.995	0.40974|0.40974	D|D	0.984722|0.984722	.|P;P	.|0.42735	.|0.788;0.67	.|P;B	.|0.45474	.|0.482;0.381	T|T	0.19877|0.19877	-1.0292|-1.0292	8|10	0.46703|0.25106	T|T	0.11|0.35	-25.9351|-25.9351	9.7274|9.7274	0.40339|0.40339	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|321;321	.|B3KQI8;P21589	.|.;5NTD_HUMAN	M|N	86;17|97;321;321	ENSP00000414674:K86M;ENSP00000387630:K17M|ENSP00000257770:K321N;ENSP00000358665:K321N	ENSP00000414674:K86M|ENSP00000257770:K321N	K|K	+|+	2|3	0|2	NT5E|NT5E	86253785|86253785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.070000|3.070000	0.50033|0.50033	0.894000|0.894000	0.36317|0.36317	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.363	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			71	308	0	0	0	1	0	71	308					T	86197066	A	T	86197066	3	4	79	1	0	0	0	0	1	0	0	0	10735	69	3	5	981	5	NT5E	6	86197066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	723376	86197066	84918001	7636	17953											
SNX14	57231	broad.mit.edu	37	chr6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgttctagtttacactgaaGatagtaatcagtatacattt	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	831					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACACTGAAGATAGTAATCA	0.383																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2491-2493)Ctt>Att		sorting nexin 14							108	112	110					6																	86223854		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223854G>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2491C>A	6.37:g.86223854G>T	ENSP00000313121:p.Leu831Ile					SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I	p.L831I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	25	2667	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	831					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2491C>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264596	0.40095	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.03	5.15	0.70609	Sorting nexin, C-terminal (1);	0.124399	0.56097	N	0.000029	T	0.05777	0.0151	N	0.21448	0.665	0.45899	D	0.998745	B;B;B;B	0.15473	0.007;0.013;0.009;0.007	B;B;B;B	0.19148	0.007;0.024;0.02;0.011	T	0.23940	-1.0174	10	0.02654	T	1	-7.3699	7.0157	0.24887	0.1384:0.0:0.7116:0.15	.	822;778;831;779	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	778;831;550;779;822;749	ENSP00000257769:L778I;ENSP00000313121:L831I;ENSP00000420938:L550I;ENSP00000427380:L779I;ENSP00000358641:L822I;ENSP00000425630:L749I	ENSP00000313121:L831I	L	-	1	0	SNX14	86280573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	1.532000	0.49169	0.555000	0.69702	CTT		0.383	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		20	315	1	0	1.01871e-10	1	1.082e-10	20	315					T	86223854	G	T	86223854	3	4	79	1	0	0	0	0	1	0	0	0	14935	942	33	3	369	3	SNX14	6	86223854	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26788	86223854	84891213	7637	17954											
SNX14	57231	broad.mit.edu	37	chr6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaaagttcataaaacGaaataaaagatcttgttgct	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	349	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(1045-1047)Cgt>Tgt		sorting nexin 14							90	80	84					6																	86256893		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86256893G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1045C>T	6.37:g.86256893G>A	ENSP00000313121:p.Arg349Cys					SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C	p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1221	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	349			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1045C>T	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368792	0.82463	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59	5.39	4.52	0.55395	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.096864	0.64402	D	0.000001	T	0.04907	0.0132	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;D;P	0.65987	0.901;0.901;0.94;0.857	T	0.37641	-0.9697	10	0.45353	T	0.12	-10.6131	13.9387	0.64041	0.0727:0.0:0.9273:0.0	.	349;305;349;297	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	305;349;349;297;349;276	ENSP00000257769:R305C;ENSP00000313121:R349C;ENSP00000420938:R349C;ENSP00000427380:R297C;ENSP00000358641:R349C;ENSP00000425630:R276C	ENSP00000313121:R349C	R	-	1	0	SNX14	86313612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.659000	0.83766	1.279000	0.44446	0.655000	0.94253	CGT		0.338	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		27	173	0	0	0	1	0	27	173					A	86256893	G	A	86256893	3	1	79	1	0	0	0	0	1	0	0	0	14935	1058	37	1	1867	1	SNX14	6	86256893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33039	86256893	84858174	7638	17955											
SNX14	57231	broad.mit.edu	37	chr6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagtttccttaaatagtGcaattcatctcttcgacttc	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	242	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTAAATAGTGCAATTCATCT	0.333																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(724-726)Cac>Tac		sorting nexin 14							90	95	94					6																	86259508		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86259508G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.724C>T	6.37:g.86259508G>A	ENSP00000313121:p.His242Tyr					SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y	p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	8	900	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	242			PXA.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.724C>T	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564490	0.13498	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.96;1.92;1.5;1.94;1.92;1.93	5.39	5.39	0.77823	Phox-associated domain (2);	0.169061	0.50627	D	0.000120	T	0.11922	0.0290	N	0.22421	0.69	0.37448	D	0.914689	B;B;B;B	0.28291	0.009;0.206;0.018;0.004	B;B;B;B	0.27076	0.029;0.076;0.049;0.029	T	0.05971	-1.0853	10	0.59425	D	0.04	-4.7065	12.4906	0.55897	0.0765:0.0:0.9235:0.0	.	242;198;242;190	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	Y	198;242;242;190;242;169	ENSP00000257769:H198Y;ENSP00000313121:H242Y;ENSP00000420938:H242Y;ENSP00000427380:H190Y;ENSP00000358641:H242Y;ENSP00000425630:H169Y	ENSP00000313121:H242Y	H	-	1	0	SNX14	86316227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.306000	0.65756	2.539000	0.85634	0.484000	0.47621	CAC		0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		63	323	0	0	0	1	0	63	323					A	86259508	G	A	86259508	3	1	79	1	0	0	0	0	1	0	0	0	14935	1319	46	2	2204	2	SNX14	6	86259508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2615	86259508	84855559	7639	17956											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324728	86324728	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttgttgggcacctcCtctcgcacctcgaacgcctc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86324728C>A	ENST00000369622.3	-	11	2118	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D|SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.G540*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	540	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGGCACCTCCTCTCGCACCT	0.622																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1618-1620)Gga>Tga		synaptotagmin binding, cytoplasmic RNA interacting protein							137	145	142					6																	86324728		2203	4300	6503	SO:0001587	stop_gained	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324728C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1618G>T	6.37:g.86324728C>A	ENSP00000358635:p.Gly540*					SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.G540*|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D	p.G540*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1824	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	540			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	ENST00000369622.3	37	c.1618G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	.	.	.	5.39	5.39	0.77823	.	0.103747	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	.	.	.	X	540	.	ENSP00000347380:G540X	G	-	1	0	SYNCRIP	86381447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.676000	0.84012	2.521000	0.84997	0.563000	0.77884	GGA		0.622	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		217	1007	1	0	2.79113e-73	1	3.55286e-73	217	1007					A	86324728	C	A	86324728	4	1	79	1	0	0	0	0	0	1	0	0	15496	690	24	3	303	3	SYNCRIP	6	86324728	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65220	86324728	84790339	7640	17957											
SYNCRIP	10492	broad.mit.edu	37	chr6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacaaaaagtgacaaacGcataacctctattgagacca	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000369622.3	-	6	1117	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A206V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	206	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AGTGACAAACGCATAACCTCT	0.393																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(616-618)gCg>gTg		synaptotagmin binding, cytoplasmic RNA interacting protein							85	82	83					6																	86346734		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86346734G>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.617C>T	6.37:g.86346734G>A	ENSP00000358635:p.Ala206Val					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.A206V	p.A206V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	6	823	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	206			RRM 1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.617C>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621423	0.96660	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.61742	0.41;0.08	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.953;0.969;0.998;0.994;0.998;0.999	D	0.87738	0.2583	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	206;206;108;54;206;206;206	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	206	ENSP00000347380:A206V;ENSP00000358635:A206V	ENSP00000347380:A206V	A	-	2	0	SYNCRIP	86403453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.724000	0.93272	0.650000	0.86243	GCG		0.393	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		20	420	0	0	0	1	0	20	420					A	86346734	G	A	86346734	3	1	79	1	0	0	0	0	1	0	0	0	15496	1087	38	1	1324	1	SYNCRIP	6	86346734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22006	86346734	84768333	7641	17958											
CGA	1081	broad.mit.edu	37	chr6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccaacatcgtcttctTggaccttagtggagtgggat	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	68					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|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)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493																																						ENST00000369582.2																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(202-204)Aag>Gag		glycoprotein hormones, alpha polypeptide							185	182	183					6																	87796039		2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796039T>C	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"Endogenous ligands"	1885	protein-coding gene	gene with protein product	"follicle-stimulating hormone alpha subunit", "chorionic gonadotropin, alpha polypeptide", "luteinizing hormone alpha chain", "lutropin alpha chain", "thyroid-stimulating hormone alpha chain", "glycoprotein hormones alpha chain"	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.202A>G	6.37:g.87796039T>C	ENSP00000358595:p.Lys68Glu						p.K68E	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	302	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	68						Missense_Mutation	SNP	ENST00000369582.2	37	c.202A>G	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187126	0.57909	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.45	0.53987	.	0.129166	0.64402	D	0.000001	T	0.56381	0.1981	M	0.62723	1.935	0.50039	D	0.999847	D	0.55385	0.971	P	0.54544	0.755	T	0.62101	-0.6925	9	0.62326	D	0.03	-16.9707	12.9504	0.58397	0.0:0.0:0.1354:0.8646	.	68	P01215	GLHA_HUMAN	E	68	.	ENSP00000358595:K68E	K	-	1	0	CGA	87852758	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.704000	0.68347	0.948000	0.37687	-0.399000	0.06403	AAG		0.493	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		123	662	0	0	0	1	0	123	662					C	87796039	T	C	87796039	3	2	79	1	0	0	0	0	1	0	0	0	3304	1821	63	4	156	4	CGA	6	87796039	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1449305	87796039	83319028	7642	17959											
ZNF292	23036	broad.mit.edu	37	chr6	87968327	87968327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaatgggactcatagcaaaGagtgttgaaatcccaactac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1660						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATAGCAAAGAGTGTTGAAA	0.363																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4978-4980)aaG>aaA		zinc finger protein 292							38	38	38					6																	87968327		1910	4121	6031	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968327G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4980G>A	6.37:g.87968327G>A						ZNF292_ENST00000339907.4_Silent_p.K1655K	p.K1660K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5023	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1660					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.4980G>A	CCDS47457.1																																																																																				0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		24	110	0	0	0	1	0	24	110					A	87968327	G	A	87968327	2	1	79	1	0	0	0	0	0	0	0	1	17879	933	33	2		2	ZNF292	6	87968327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172288	87968327	83146740	7643	17960											
ZNF292	23036	broad.mit.edu	37	chr6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcttccttcagtaaAcactgtgcaaaataacaaat	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1799						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTCAGTAAACACTGTGCAA	0.353																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5395-5397)aAc>aGc		zinc finger protein 292							37	37	37					6																	87968743		1841	4092	5933	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968743A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5396A>G	6.37:g.87968743A>G	ENSP00000358590:p.Asn1799Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	p.N1799S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5439	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1799					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5396A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961086	0.34565	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08008	3.14;3.15	5.86	4.7	0.59300	.	0.216097	0.37095	N	0.002260	T	0.04907	0.0132	N	0.24115	0.695	0.33391	D	0.576128	D	0.63880	0.993	P	0.51516	0.672	T	0.17868	-1.0355	10	0.72032	D	0.01	.	12.125	0.53913	0.9332:0.0:0.0668:0.0	.	1799	O60281	ZN292_HUMAN	S	1799;1794	ENSP00000358590:N1799S;ENSP00000342847:N1794S	ENSP00000342847:N1794S	N	+	2	0	ZNF292	88025462	0.554000	0.26522	1.000000	0.80357	0.612000	0.37316	1.086000	0.30853	1.153000	0.42468	-0.263000	0.10527	AAC		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	123	0	0	0	1	0	11	123					G	87968743	A	G	87968743	3	3	79	1	0	0	0	0	1	0	0	0	17879	43	2	4	5426	4	ZNF292	6	87968743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416	87968743	83146324	7644	17961											
ZNF292	23036	broad.mit.edu	37	chr6	87970601	87970601	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaaggcatttacatcAcaacaccgaaatcttcttat	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	ENST00000369577.3	+	8	7297	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S	ZNF292_ENST00000339907.4_Silent_p.S2413S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2418						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTTACATCACAACACCGAA	0.343																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7252-7254)tcA>tcC		zinc finger protein 292							43	40	41					6																	87970601		1870	4096	5966	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970601A>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7254A>C	6.37:g.87970601A>C						ZNF292_ENST00000339907.4_Silent_p.S2413S	p.S2418S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7297	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2418					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.7254A>C	CCDS47457.1																																																																																				0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	77	0	0	0	1	0	4	77					C	87970601	A	C	87970601	2	2	79	1	0	0	0	0	0	0	0	1	17879	146	6	4		4	ZNF292	6	87970601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1858	87970601	83144466	7645	17962											
GJB7	375519	broad.mit.edu	37	chr6	87994334	87994334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccttttctctctaccCtcatgataggctacatgtaa	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87994334C>A	ENST00000525899.1	-	3	642	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	99					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TCTCTCTACCCTCATGATAGG	0.448																																						ENST00000525899.1																			0				endometrium(2)|large_intestine(3)	5						c.(295-297)gaG>gaT		gap junction protein, beta 7, 25kDa							102	102	102					6																	87994334		2203	4300	6503	SO:0001583	missense	0				cell communication	connexon complex|integral to membrane		g.chr6:87994334C>A	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"Ion channels / Gap junction proteins (connexins)"	16690	protein-coding gene	gene with protein product	"connexin 25"	611921	"gap junction protein, beta 7"				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.297G>T	6.37:g.87994334C>A	ENSP00000435355:p.Glu99Asp					GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0167)	3	642	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	99					B3KXL0|Q96KP0	Missense_Mutation	SNP	ENST00000525899.1	37	c.297G>T	CCDS5008.1	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433578	0.04669	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.99121	-5.45;-5.45;-5.45	4.84	2.07	0.26955	Connexin, N-terminal (1);	0.151148	0.40469	U	0.001090	D	0.93851	0.8033	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.24394	0.053	D	0.88918	0.3364	10	0.20519	T	0.43	.	7.5203	0.27624	0.0:0.561:0.0:0.439	.	99	Q6PEY0	CXB7_HUMAN	D	99	ENSP00000435355:E99D;ENSP00000296882:E99D;ENSP00000358589:E99D	ENSP00000296882:E99D	E	-	3	2	GJB7	88051053	0.819000	0.29175	0.007000	0.13788	0.004000	0.04260	0.528000	0.23002	0.113000	0.18004	-0.291000	0.09656	GAG		0.448	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			11	388	1	0	0.010729	1	0.0107869	11	388					A	87994334	C	A	87994334	3	1	79	1	0	0	0	0	1	0	0	0	6442	680	24	3	378	3	GJB7	6	87994334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23733	87994334	83120733	7646	17963											
C6orf162	57150	broad.mit.edu	37	chr6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgcacaacaaccttatttCgtgctgtgaatccagagctc	8	12	0	2	rs138742161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88046852C>T	ENST00000392863.1	+	3	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SMIM8_ENST00000608525.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608868.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608353.1_Missense_Mutation_p.R35C|RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.R35C|SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	35						integral component of membrane (GO:0016021)											AACCTTATTTCGTGCTGTGAA	0.433																																						ENST00000392863.1																			0											c.(103-105)Cgt>Tgt		small integral membrane protein 8		C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	110	110	110		103,103	5.2	1	6	dbSNP_134	110	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	C6orf162	NM_001042493.1,NM_020425.4	180,180	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	probably-damaging,probably-damaging	35/98,35/98	88046852	5,13001	2203	4300	6503	SO:0001583	missense	57150							g.chr6:88046852C>T	AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 162"	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.103C>T	6.37:g.88046852C>T	ENSP00000376603:p.Arg35Cys					SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C	p.R35C	NM_001042493.1	NP_001035958.1					3	192	+								B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	c.103C>T	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227300	0.79576	4.54E-4	3.49E-4	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	6.03	5.16	0.70880	.	0.065894	0.64402	D	0.000007	T	0.70482	0.3229	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76141	-0.3068	8	0.87932	D	0	-11.0	8.666	0.34121	0.2609:0.6702:0.0:0.0689	.	35	Q96KF7	CF162_HUMAN	C	35	.	ENSP00000229570:R35C	R	+	1	0	C6orf162	88103571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.170000	0.42443	1.564000	0.49628	0.655000	0.94253	CGT		0.433	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		85	367	0	0	0	1	0	85	367					T	88046852	C	T	88046852	3	4	79	1	0	0	0	0	1	0	0	0	2347	884	31	1	105	1	C6orf162	6	88046852	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52518	88046852	83068215	7647	17964											
C6orf165	154313	broad.mit.edu	37	chr6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagaatgtgcagcccatgGagagattgtttctgaaactc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	25										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGCCCATGGAGAGATTGTT	0.333																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(73-75)gGa>gAa		chromosome 6 open reading frame 165							146	151	149					6																	88119631		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88119631G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.74G>A	6.37:g.88119631G>A	ENSP00000426769:p.Gly25Glu					C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E	p.G25E			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	2	157	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	25					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.74G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479913	0.84747	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34667	1.35;1.37	5.39	5.39	0.77823	.	0.051960	0.85682	D	0.000000	T	0.52240	0.1722	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.907	T	0.50189	-0.8857	10	0.51188	T	0.08	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	25;25	Q8IYR0;E1P509	CF165_HUMAN;.	E	25	ENSP00000358575:G25E;ENSP00000422494:G25E	ENSP00000358575:G25E	G	+	2	0	C6orf165	88176350	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.803000	0.91915	2.671000	0.90904	0.655000	0.94253	GGA		0.333	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		92	336	0	0	0	1	0	92	336					A	88119631	G	A	88119631	3	1	79	1	0	0	0	0	1	0	0	0	2348	1174	41	2	76	2	C6orf165	6	88119631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72779	88119631	82995436	7648	17965											
RARS2	57038	broad.mit.edu	37	chr6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcgagtcttcattcCctgtactactccaaagggca	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTCTTCATTCCCTGTACTACT	0.403																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1144-1146)Gga>Tga		arginyl-tRNA synthetase 2, mitochondrial							104	98	100					6																	88229394		2203	4300	6503	SO:0001587	stop_gained	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229394C>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1144G>T	6.37:g.88229394C>A	ENSP00000358549:p.Gly382*						p.G382*	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	14	1189	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	382					B2RDT7|Q96FU5|Q9H8K8	Nonsense_Mutation	SNP	ENST00000369536.5	37	c.1144G>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079834	0.98048	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000358549:G382X	G	-	1	0	RARS2	88286113	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GGA		0.403	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		53	264	1	0	4.1673e-28	1	4.84001e-28	53	264					A	88229394	C	A	88229394	4	1	79	1	0	0	0	0	0	1	0	0	13109	632	22	3	620	3	RARS2	6	88229394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109763	88229394	82885673	7649	17966											
RARS2	57038	broad.mit.edu	37	chr6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatgctcaagtcccgAaatttttgccacagtgaaag	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	244					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAGTCCCGAAATTTTTGCC	0.473																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(730-732)ttT>ttG		arginyl-tRNA synthetase 2, mitochondrial							179	161	167					6																	88240541		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240541A>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.732T>G	6.37:g.88240541A>C	ENSP00000358549:p.Phe244Leu						p.F244L	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	777	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	244					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.732T>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338772	0.81911	.	.	ENSG00000146282	ENST00000369536	T	0.58358	0.34	6.17	1.25	0.21368	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.60845	1.875	0.53688	D	0.999976	P	0.47604	0.898	P	0.55391	0.775	T	0.41840	-0.9486	10	0.45353	T	0.12	.	9.2739	0.37688	0.6473:0.0:0.3527:0.0	.	244	Q5T160	SYRM_HUMAN	L	244	ENSP00000358549:F244L	ENSP00000358549:F244L	F	-	3	2	RARS2	88297260	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.724000	0.38064	-0.011000	0.14247	-0.274000	0.10170	TTT		0.473	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		78	397	0	0	0	1	0	78	397					C	88240541	A	C	88240541	3	2	79	1	0	0	0	0	1	0	0	0	13109	243	9	4	1052	4	RARS2	6	88240541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11147	88240541	82874526	7650	17967											
RARS2	57038	broad.mit.edu	37	chr6	88240658	88240658	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttattaacttgtacataAacctaaaagtacaatagtac	3	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	205					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTGTACATAAACCTAAAAGT	0.358																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(613-615)gtT>gtG		arginyl-tRNA synthetase 2, mitochondrial							110	108	109					6																	88240658		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240658A>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.615T>G	6.37:g.88240658A>C							p.V205V	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	660	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	205					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.615T>G	CCDS5011.1																																																																																				0.358	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		49	205	0	0	0	1	0	49	205					C	88240658	A	C	88240658	2	2	79	1	0	0	0	0	0	0	0	1	13109	1	1	4		4	RARS2	6	88240658	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117	88240658	82874409	7651	17968											
RARS2	57038	broad.mit.edu	37	chr6	88272489	88272489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatttcactcaccacTgtatcacatcttagctgaaa	5	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	76					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACTCACCACTGTATCACATC	0.338																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(226-228)acA>acG		arginyl-tRNA synthetase 2, mitochondrial							113	102	106					6																	88272489		2202	4299	6501	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88272489T>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.228A>G	6.37:g.88272489T>C							p.T76T	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	4	273	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	76					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.228A>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891586	0.17613	.	.	ENSG00000146282	ENST00000451155	.	.	.	5.51	4.35	0.52113	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43956	-0.9359	4	.	.	.	.	8.2043	0.31443	0.0:0.0906:0.0:0.9094	.	.	.	.	R	104	.	.	Q	-	2	0	RARS2	88329208	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.098000	0.15189	0.918000	0.36919	-0.256000	0.11100	CAG		0.338	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		41	180	0	0	0	1	0	41	180					C	88272489	T	C	88272489	2	2	79	1	0	0	0	0	0	0	0	1	13109	1567	55	4		4	RARS2	6	88272489	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31831	88272489	82842578	7652	17969											
SPACA1	81833	broad.mit.edu	37	chr6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattcggaatgtgcaccGttacatgtggtaagtagctt	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	86					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AATGTGCACCGTTACATGTGG	0.348																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(256-258)Gtt>Att		sperm acrosome associated 1							94	89	90					6																	88763711		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88763711G>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.256G>A	6.37:g.88763711G>A	ENSP00000237201:p.Val86Ile						p.V86I	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	2	373	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	86						Missense_Mutation	SNP	ENST00000237201.1	37	c.256G>A	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215641	0.58452	.	.	ENSG00000118434	ENST00000237201	T	0.32023	1.47	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000040	T	0.36054	0.0953	M	0.67953	2.075	0.33814	D	0.628257	D	0.65815	0.995	P	0.50570	0.644	T	0.35475	-0.9787	10	0.87932	D	0	-14.1554	18.6239	0.91331	0.0:0.0:1.0:0.0	.	86	Q9HBV2	SACA1_HUMAN	I	86	ENSP00000237201:V86I	ENSP00000237201:V86I	V	+	1	0	SPACA1	88820430	1.000000	0.71417	0.934000	0.37439	0.391000	0.30476	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GTT		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			32	147	0	0	0	1	0	32	147					A	88763711	G	A	88763711	3	1	79	1	0	0	0	0	1	0	0	0	15022	1145	40	1	262	1	SPACA1	6	88763711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491222	88763711	82351356	7653	17970											
SPACA1	81833	broad.mit.edu	37	chr6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaagtgttagattgGcatgtattcacacatctccc	8	9	3	2	rs562991674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	137					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTAGATTGGCATGTATTCA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(409-411)Gca>Aca		sperm acrosome associated 1							99	101	100					6																	88768475		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88768475G>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.409G>A	6.37:g.88768475G>A	ENSP00000237201:p.Ala137Thr						p.A137T	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	4	526	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	137						Missense_Mutation	SNP	ENST00000237201.1	37	c.409G>A	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000118434	ENST00000237201	T	0.23950	1.88	5.86	1.49	0.22878	.	0.672852	0.14875	N	0.293339	T	0.05227	0.0139	N	0.25647	0.755	0.09310	N	1	B	0.24823	0.112	B	0.27380	0.079	T	0.36065	-0.9763	10	0.28530	T	0.3	-3.0372	4.0794	0.09919	0.0749:0.342:0.3269:0.2563	.	137	Q9HBV2	SACA1_HUMAN	T	137	ENSP00000237201:A137T	ENSP00000237201:A137T	A	+	1	0	SPACA1	88825194	0.001000	0.12720	0.040000	0.18447	0.769000	0.43574	0.001000	0.13038	0.760000	0.33108	0.650000	0.86243	GCA		0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			47	224	0	0	0	1	0	47	224					A	88768475	G	A	88768475	3	1	79	1	0	0	0	0	1	0	0	0	15022	1203	42	2	423	2	SPACA1	6	88768475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4764	88768475	82346592	7654	17971											
CNR1	1268	broad.mit.edu	37	chr6	88853707	88853707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtttgtgcaggcagtcCgagtcccccatgctgttatc	12	12	0	0	rs149238893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88853707C>T	ENST00000537554.1	-	2	4849	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000535130.1_Silent_p.S429S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	429					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGGCAGTCCGAGTCCCCCA	0.547																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1285-1287)tcG>tcA		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	C	,,,,	0,4406		0,0,2203	191	173	179		1287,1287,1287,1287,1188	-3.5	0.9	6	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	429/473,429/473,429/473,429/473,396/440	88853707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853707C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1287G>A	6.37:g.88853707C>T						CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S	p.S429S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4849	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	429					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.1287G>A	CCDS5015.1																																																																																				0.547	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			13	804	0	0	0	1	0	13	804					T	88853707	C	T	88853707	2	4	79	1	0	0	0	0	0	0	0	1	3640	639	23	1		1	CNR1	6	88853707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85232	88853707	82261360	7655	17972											
PNRC1	10957	broad.mit.edu	37	chr6	89790706	89790706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgaggttactttggggcCctcccgatggtgaccacggc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	RP11-63L7.5_ENST00000606729.1_RNA|PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(91-93)gcC>gcT		proline-rich nuclear receptor coactivator 1							42	47	46					6																	89790706		2203	4300	6503	SO:0001819	synonymous_variant	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89790706C>T	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.93C>T	6.37:g.89790706C>T		Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Intron	p.A31A	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	1	210	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	31					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	37	c.93C>T	CCDS5018.1																																																																																				0.677	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		66	290	0	0	0	1	0	66	290					T	89790706	C	T	89790706	2	4	79	1	0	0	0	0	0	0	0	1	12216	610	22	2		2	PNRC1	6	89790706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	936999	89790706	81324361	7656	17973											
PM20D2	135293	broad.mit.edu	37	chr6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctatggaaagcctatatgGaaaatggaagaaagctagga	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	329						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318																																						ENST00000275072.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(985-987)Gaa>Aaa		peptidase M20 domain containing 2							96	106	103					6																	89868116		2203	4299	6502	SO:0001583	missense	135293						hydrolase activity	g.chr6:89868116G>A	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.985G>A	6.37:g.89868116G>A	ENSP00000275072:p.Glu329Lys						p.E329K	NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	5	1080	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	329					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.985G>A	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129926	0.21041	.	.	ENSG00000146281	ENST00000275072	T	0.43688	0.94	5.32	5.32	0.75619	.	0.148551	0.64402	D	0.000011	T	0.14056	0.0340	N	0.17248	0.465	0.38219	D	0.940694	B	0.15719	0.014	B	0.20577	0.03	T	0.10109	-1.0644	10	0.07030	T	0.85	-15.6414	19.0253	0.92930	0.0:0.0:1.0:0.0	.	329	Q8IYS1	P20D2_HUMAN	K	329	ENSP00000275072:E329K	ENSP00000275072:E329K	E	+	1	0	PM20D2	89924835	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.688000	0.74557	2.490000	0.84030	0.585000	0.79938	GAA		0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		84	423	0	0	0	1	0	84	423					A	89868116	G	A	89868116	3	1	79	1	0	0	0	0	1	0	0	0	12171	1175	41	2	1003	2	PM20D2	6	89868116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77410	89868116	81246951	7657	17974											
UBE2J1	51465	broad.mit.edu	37	chr6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggctgcgcatggtaatgatCtgttggatctttcaattctg	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	27					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269																																						ENST00000435041.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18						c.(79-81)Gat>Tat		ubiquitin-conjugating enzyme E2, J1							59	59	59					6																	90053428		2203	4298	6501	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90053428C>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.79G>T	6.37:g.90053428C>A	ENSP00000451261:p.Asp27Tyr						p.D27Y	NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	2	357	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	27					A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.79G>T	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843161	0.71488	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46451	0.87	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042805	0.85682	D	0.000000	T	0.24586	0.0596	N	0.25286	0.73	0.80722	D	1	B	0.33777	0.425	B	0.36289	0.221	T	0.12066	-1.0562	10	0.54805	T	0.06	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	27	Q9Y385	UB2J1_HUMAN	Y	27;12	ENSP00000451261:D27Y	ENSP00000354684:D27Y	D	-	1	0	UBE2J1	90110147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	GAT		0.269	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		35	127	1	0	2.26627e-22	1	2.56399e-22	35	127					A	90053428	C	A	90053428	3	1	79	1	0	0	0	0	1	0	0	0	16914	913	32	3	905	3	UBE2J1	6	90053428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185312	90053428	81061639	7658	17975											
RRAGD	58528	broad.mit.edu	37	chr6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaaaagtcaatctgtcCtgggaagtcccaaatctgaa	8	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(358-360)Gga>Tga		Ras-related GTP binding D							134	140	138					6																	90097100		2203	4300	6503	SO:0001587	stop_gained	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097100C>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.358G>T	6.37:g.90097100C>A	ENSP00000358423:p.Gly120*					RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	p.G120*	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	634	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	120						Nonsense_Mutation	SNP	ENST00000369415.4	37	c.358G>T	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.577906	0.98368	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4848	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000358423:G120X	G	-	1	0	RRAGD	90153819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.487000	0.81328	2.583000	0.87209	0.655000	0.94253	GGA		0.433	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		153	696	1	0	1.01079e-59	1	1.26995e-59	153	696					A	90097100	C	A	90097100	4	1	79	1	0	0	0	0	0	1	0	0	13725	690	24	3	868	3	RRAGD	6	90097100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43672	90097100	81017967	7659	17976											
MDN1	23195	broad.mit.edu	37	chr6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaagctccccttccaagccgGaaggagcagcgccctgacac	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4047					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAAGCCGGAAGGAGCAGC	0.572																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12139-12141)tCc>tAc		MDN1, midasin homolog (yeast)							64	59	60					6																	90390433		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90390433G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12140C>A	6.37:g.90390433G>T	ENSP00000358400:p.Ser4047Tyr					MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y	p.S4047Y			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	74	12255	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4047					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12140C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246517	0.10130	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.54	0.545	0.17190	.	0.979712	0.08407	N	0.950525	T	0.00637	0.0021	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.1593	0.06515	0.5294:0.0:0.177:0.2936	.	4047	Q9NU22	MDN1_HUMAN	Y	4047	ENSP00000358400:S4047Y;ENSP00000413970:S4047Y	ENSP00000358400:S4047Y	S	-	2	0	MDN1	90447154	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	0.508000	0.22692	-0.085000	0.12573	-0.367000	0.07326	TCC		0.572	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			24	192	1	0	4.22769e-11	1	4.50498e-11	24	192					T	90390433	G	T	90390433	3	4	79	1	0	0	0	0	1	0	0	0	9456	1174	41	3	4766	3	MDN1	6	90390433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293333	90390433	80724634	7660	17977											
MDN1	23195	broad.mit.edu	37	chr6	90402593	90402593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtactcctctgacaGccgcttccggaactggtggt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3386					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCTGACAGCCGCTTCCGG	0.582																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10156-10158)Ctg>Ttg		MDN1, midasin homolog (yeast)							57	53	55					6																	90402593		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90402593G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10156C>T	6.37:g.90402593G>A						MDN1_ENST00000428876.1_Silent_p.L3386L	p.L3386L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10271	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3386					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10156C>T	CCDS5024.1																																																																																				0.582	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			23	253	0	0	0	1	0	23	253					A	90402593	G	A	90402593	2	1	79	1	0	0	0	0	0	0	0	1	9456	962	34	2		2	MDN1	6	90402593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12160	90402593	80712474	7661	17978											
MDN1	23195	broad.mit.edu	37	chr6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgagggaatacctgAattctgctactgaagagata	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3127					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAATACCTGAATTCTGCTAC	0.498																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9379-9381)tTc>tCc		MDN1, midasin homolog (yeast)							71	63	66					6																	90406082		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90406082A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9380T>C	6.37:g.90406082A>G	ENSP00000358400:p.Phe3127Ser					MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S	p.F3127S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	60	9495	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3127					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9380T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224206	0.58668	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.45	5.45	0.79879	.	0.118077	0.56097	D	0.000024	T	0.02230	0.0069	L	0.34521	1.04	0.52099	D	0.999941	D	0.54397	0.966	P	0.47299	0.543	T	0.63157	-0.6700	10	0.33141	T	0.24	.	11.2912	0.49252	0.8635:0.0:0.0:0.1365	.	3127	Q9NU22	MDN1_HUMAN	S	3127	ENSP00000358400:F3127S;ENSP00000413970:F3127S	ENSP00000358400:F3127S	F	-	2	0	MDN1	90462803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.067000	0.61834	0.533000	0.62120	TTC		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			46	166	0	0	0	1	0	46	166					G	90406082	A	G	90406082	3	3	79	1	0	0	0	0	1	0	0	0	9456	246	9	4	7582	4	MDN1	6	90406082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3489	90406082	80708985	7662	17979											
MDN1	23195	broad.mit.edu	37	chr6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcacttagagaataTgggtctattgagattgccgg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3065					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTAGAGAATATGGGTCTATTG	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9193-9195)Ata>Gta		MDN1, midasin homolog (yeast)							58	58	58					6																	90406269		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90406269T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9193A>G	6.37:g.90406269T>C	ENSP00000358400:p.Ile3065Val					MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V	p.I3065V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	60	9308	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3065					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9193A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254333	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.01871	4.59;4.59	5.65	-4.13	0.03904	.	1.145840	0.06519	N	0.739389	T	0.00271	0.0008	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.02654	T	1	.	9.2067	0.37293	0.0:0.6208:0.1122:0.267	.	3065	Q9NU22	MDN1_HUMAN	V	3065	ENSP00000358400:I3065V;ENSP00000413970:I3065V	ENSP00000358400:I3065V	I	-	1	0	MDN1	90462990	0.020000	0.18652	0.050000	0.19076	0.927000	0.56198	0.307000	0.19296	-0.669000	0.05289	-0.290000	0.09829	ATA		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			34	198	0	0	0	1	0	34	198					C	90406269	T	C	90406269	3	2	79	1	0	0	0	0	1	0	0	0	9456	1464	51	4	7769	4	MDN1	6	90406269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	90406269	80708798	7663	17980											
MDN1	23195	broad.mit.edu	37	chr6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatatgttctgagacaGtctgaacttctttgtaatat	7	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2776					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGAGACAGTCTGAACTTC	0.423																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(8326-8328)aCt>aAt		MDN1, midasin homolog (yeast)							45	46	45					6																	90411377		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90411377G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8327C>A	6.37:g.90411377G>T	ENSP00000358400:p.Thr2776Asn					MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N	p.T2776N			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	55	8442	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2776					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8327C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193207	0.38707	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.69	4.82	0.62117	.	0.472428	0.22787	N	0.055659	T	0.01320	0.0043	N	0.24115	0.695	0.34143	D	0.6666	P	0.34462	0.454	B	0.29785	0.107	T	0.55347	-0.8155	10	0.37606	T	0.19	.	15.042	0.71799	0.0692:0.0:0.9308:0.0	.	2776	Q9NU22	MDN1_HUMAN	N	2776	ENSP00000358400:T2776N;ENSP00000413970:T2776N	ENSP00000358400:T2776N	T	-	2	0	MDN1	90468098	1.000000	0.71417	0.534000	0.28014	0.945000	0.59286	7.045000	0.76585	1.379000	0.46325	0.585000	0.79938	ACT		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			44	214	1	0	1.47197e-15	1	1.61021e-15	44	214					T	90411377	G	T	90411377	3	4	79	1	0	0	0	0	1	0	0	0	9456	1029	36	3	8655	3	MDN1	6	90411377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5108	90411377	80703690	7664	17981											
MDN1	23195	broad.mit.edu	37	chr6	90417165	90417165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgcttcagtaaaaacCcgtttttcccggtcaagata	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2643					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAAAAACCCGTTTTTCCC	0.338																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7927-7929)cgG>cgA		MDN1, midasin homolog (yeast)							121	123	122					6																	90417165		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90417165C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7929G>A	6.37:g.90417165C>T						MDN1_ENST00000428876.1_Silent_p.R2643R	p.R2643R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	52	8044	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2643					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7929G>A	CCDS5024.1																																																																																				0.338	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			28	256	0	0	0	1	0	28	256					T	90417165	C	T	90417165	2	4	79	1	0	0	0	0	0	0	0	1	9456	610	22	2		2	MDN1	6	90417165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5788	90417165	80697902	7665	17982											
MDN1	23195	broad.mit.edu	37	chr6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagcatcgcgagtctccGcatgccctcagtccacacga	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1370					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGAGTCTCCGCATGCCCTCA	0.453																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4108-4110)Cgg>Tgg		MDN1, midasin homolog (yeast)							139	121	127					6																	90455062		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90455062G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4108C>T	6.37:g.90455062G>A	ENSP00000358400:p.Arg1370Trp					MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W	p.R1370W			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	29	4223	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1370					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4108C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052747	0.55218	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.87	4.0	0.46444	.	0.106693	0.64402	D	0.000008	T	0.58509	0.2127	M	0.88979	2.995	0.50313	D	0.999868	D	0.60575	0.988	P	0.62560	0.904	T	0.68773	-0.5320	10	0.59425	D	0.04	.	14.2802	0.66205	0.0:0.0:0.5168:0.4832	.	1370	Q9NU22	MDN1_HUMAN	W	1370	ENSP00000358400:R1370W;ENSP00000413970:R1370W	ENSP00000358400:R1370W	R	-	1	2	MDN1	90511783	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	1.456000	0.47831	0.655000	0.94253	CGG		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			85	365	0	0	0	1	0	85	365					A	90455062	G	A	90455062	3	1	79	1	0	0	0	0	1	0	0	0	9456	1086	38	1	12978	1	MDN1	6	90455062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37897	90455062	80660005	7666	17983											
MDN1	23195	broad.mit.edu	37	chr6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatgtgttgacagatgagCttctgaactattgggtgtga	12	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1008					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACAGATGAGCTTCTGAACTA	0.378																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(3022-3024)aaG>aaT		MDN1, midasin homolog (yeast)							138	135	136					6																	90463282		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90463282C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3024G>T	6.37:g.90463282C>A	ENSP00000358400:p.Lys1008Asn					MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N	p.K1008N			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	22	3139	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1008					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3024G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566399	0.27915	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19250	3.92;3.92;2.16	5.91	-0.626	0.11544	.	0.054527	0.64402	D	0.000001	T	0.05593	0.0147	L	0.45698	1.435	0.45183	D	0.998198	B;B	0.24533	0.105;0.013	B;B	0.19391	0.025;0.016	T	0.18555	-1.0333	10	0.23302	T	0.38	.	6.1607	0.20362	0.1198:0.5202:0.0:0.36	.	935;1008	Q5T795;Q9NU22	.;MDN1_HUMAN	N	1008;1008;935	ENSP00000358400:K1008N;ENSP00000413970:K1008N;ENSP00000409664:K935N	ENSP00000358400:K1008N	K	-	3	2	MDN1	90520003	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	0.386000	0.20702	0.127000	0.18452	-0.140000	0.14226	AAG		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			82	385	1	0	3.05217e-42	1	3.71447e-42	82	385					A	90463282	C	A	90463282	3	1	79	1	0	0	0	0	1	0	0	0	9456	796	28	3	14090	3	MDN1	6	90463282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8220	90463282	80651785	7667	17984											
MDN1	23195	broad.mit.edu	37	chr6	90463339	90463339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaagaaacccaaacaaaaAccctagaaagaaaagacaaa	5	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463339A>G	ENST00000369393.3	-	22	3082	c.2967T>C	c.(2965-2967)ggT>ggC	p.G989G	MDN1_ENST00000428876.1_Silent_p.G989G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAACAAAAACCCTAGAAAG	0.398																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2965-2967)ggT>ggC		MDN1, midasin homolog (yeast)							91	91	91					6																	90463339		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90463339A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2967T>C	6.37:g.90463339A>G						MDN1_ENST00000428876.1_Silent_p.G989G	p.G989G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	22	3082	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	989					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.2967T>C	CCDS5024.1																																																																																				0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	309	0	0	0	1	0	9	309					G	90463339	A	G	90463339	2	3	79	1	0	0	0	0	0	0	0	1	9456	30	2	4		4	MDN1	6	90463339	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	90463339	80651728	7668	17985											
MDN1	23195	broad.mit.edu	37	chr6	90494754	90494754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagttctctcttatccaGgttatccaggtgaattttgg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90494754G>A	ENST00000369393.3	-	9	1541	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	MDN1_ENST00000428876.1_Silent_p.L476L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	476					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTTATCCAGGTTATCCAGG	0.438																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1426-1428)Ctg>Ttg		MDN1, midasin homolog (yeast)							261	249	253					6																	90494754		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494754G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1426C>T	6.37:g.90494754G>A						MDN1_ENST00000428876.1_Silent_p.L476L	p.L476L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1541	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	476					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.1426C>T	CCDS5024.1																																																																																				0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			13	937	0	0	0	1	0	13	937					A	90494754	G	A	90494754	2	1	79	1	0	0	0	0	0	0	0	1	9456	991	35	2		2	MDN1	6	90494754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31415	90494754	80620313	7669	17986											
MDN1	23195	broad.mit.edu	37	chr6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaacttgaaggctgcttCcattaggtcccggagcttca	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	150					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGCTGCTTCCATTAGGTCC	0.522																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(448-450)Gaa>Taa		MDN1, midasin homolog (yeast)							128	105	113					6																	90504402		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90504402C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.448G>T	6.37:g.90504402C>A	ENSP00000358400:p.Glu150*					MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*	p.E150*			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	3	563	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	150					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.448G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500931	0.97616	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.23	5.23	0.72850	.	0.061948	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358400:E150X	E	-	1	0	MDN1	90561123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.614000	0.88457	0.557000	0.71058	GAA		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			69	265	1	0	2.165e-29	1	2.52906e-29	69	265					A	90504402	C	A	90504402	4	1	79	1	0	0	0	0	0	1	0	0	9456	864	30	3	16742	3	MDN1	6	90504402	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9648	90504402	80610665	7670	17987											
MDN1	23195	broad.mit.edu	37	chr6	90513085	90513085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaccaatgagtttgctcatCgacacacatagccgttcatg	7	11	2	1	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	97					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGCTCATCGACACACATA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(289-291)tcG>tcA		MDN1, midasin homolog (yeast)		C		4,4402	8.1+/-20.4	0,4,2199	278	243	255		291	-9.6	0.8	6	dbSNP_134	255	0,8600		0,0,4300	no	coding-synonymous	MDN1	NM_014611.1		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		97/5597	90513085	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90513085C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.291G>A	6.37:g.90513085C>T						MDN1_ENST00000428876.1_Silent_p.S97S	p.S97S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	2	406	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	97					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.291G>A	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			124	629	0	0	0	1	0	124	629					T	90513085	C	T	90513085	2	4	79	1	0	0	0	0	0	0	0	1	9456	871	31	1		1	MDN1	6	90513085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8683	90513085	80601982	7671	17988											
CASP8AP2	9994	broad.mit.edu	37	chr6	90573238	90573238	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcaagttaaaacagtgGcatatgttccctccataagt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	ENST00000551025.1	+	0	3247									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACAGTGGCATATGTTCC	0.423																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							42	41	41					6																	90573238		1931	4131	6062			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573238G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573238G>A										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	3247	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		10	40	0	0	0	1	0	10	40					A	90573238	G	A	90573238	1	1	79	0	1	0	0	0	0	0	0	0	2685	1203	42	2		2	CASP8AP2	6	90573238	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60153	90573238	80541829	7672	17989											
CASP8AP2	9994	broad.mit.edu	37	chr6	90576760	90576760	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaagaactctcaatccgaaGagcgctccttggaagtacac	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	ENST00000551025.1	+	0	5188									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAATCCGAAGAGCGCTCCTT	0.378																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							41	42	42					6																	90576760		1853	4090	5943			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90576760G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576760G>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	5188	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		42	188	1	0	3.61848e-18	1	4.01023e-18	42	188					T	90576760	G	T	90576760	1	4	79	0	1	0	0	0	0	0	0	0	2685	943	33	3		3	CASP8AP2	6	90576760	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3522	90576760	80538307	7673	17990											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578207	90578207	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattctttgcaggctgataCtgtaggtgcttttattgatt	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578207C>T	ENST00000551025.1	+	0	6635									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGGCTGATACTGTAGGTGCT	0.388																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							87	80	82					6																	90578207		1883	4115	5998			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578207C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578207C>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6635	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		13	210	0	0	0	1	0	13	210					T	90578207	C	T	90578207	1	4	79	0	1	0	0	0	0	0	0	0	2685	565	20	2		2	CASP8AP2	6	90578207	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1447	90578207	80536860	7674	17991											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578293	90578293	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattagctgtggaagacTtgggatgtggggtgatacag	16	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	ENST00000551025.1	+	0	6721									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGGAAGACTTGGGATGTGG	0.403																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							87	81	83					6																	90578293		1924	4143	6067			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578293T>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578293T>C										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6721	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		35	121	0	0	0	1	0	35	121					C	90578293	T	C	90578293	1	2	79	0	1	0	0	0	0	0	0	0	2685	1606	56	4		4	CASP8AP2	6	90578293	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	90578293	80536774	7675	17992											
BACH2	60468	broad.mit.edu	37	chr6	90647962	90647962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcgccgtcggacatcAtgaataaactctaactgttc	8	11	2	1	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	648	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1942-1944)caT>caC		BTB and CNC homology 1, basic leucine zipper transcription factor 2		A	,	0,4406		0,0,2203	120	115	117		1944,1944	-0.6	1	6	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	,	648/842,648/842	90647962	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90647962A>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1944T>C	6.37:g.90647962A>G						BACH2_ENST00000343122.3_Silent_p.H648H|BACH2_ENST00000537989.1_Silent_p.H648H	p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2651	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	648					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1944T>C	CCDS5026.1																																																																																				0.443	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		97	384	0	0	0	1	0	97	384					G	90647962	A	G	90647962	2	3	79	1	0	0	0	0	0	0	0	1	1285	214	8	4		4	BACH2	6	90647962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69669	90647962	80467105	7676	17993											
MAP3K7	6885	broad.mit.edu	37	chr6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagttttacggtggcccCgtttaggcttggaataggct	13	8	0	0	rs201721045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|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 interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGTGGCCCCGTTTAGGCTT	0.408																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1228-1230)cGg>cAg		mitogen-activated protein kinase kinase kinase 7							120	115	116					6																	91254333		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|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 interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91254333C>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1229G>A	6.37:g.91254333C>T	ENSP00000358335:p.Arg410Gln					MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron	p.R410Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	12	1390	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	410					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1229G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957146	0.73902	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	T;T	0.76316	-0.98;-1.01	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.03608	-0.345	0.80722	D	1	B;D	0.64830	0.401;0.994	B;P	0.61201	0.02;0.885	T	0.63554	-0.6611	10	0.09338	T	0.73	.	16.2921	0.82757	0.0:0.8672:0.1328:0.0	.	410;410	O43318-3;O43318	.;M3K7_HUMAN	Q	410	ENSP00000358335:R410Q;ENSP00000358331:R410Q	ENSP00000358331:R410Q	R	-	2	0	MAP3K7	91311054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	1.302000	0.44855	0.491000	0.48974	CGG		0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		13	308	0	0	0	1	0	13	308					T	91254333	C	T	91254333	3	4	79	1	0	0	0	0	1	0	0	0	9296	652	23	1	615	1	MAP3K7	6	91254333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606371	91254333	79860734	7677	17994											
EPHA7	2045	broad.mit.edu	37	chr6	93967929	93967929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtaaccaactttcagGgtttttatggctactgcaac	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAACTTTCAGGGTTTTTATGG	0.448																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1996-1998)acC>acT		EPH receptor A7							129	133	132					6																	93967929		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967929G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1998C>T	6.37:g.93967929G>A							p.T666T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	11	2182	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	666			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1998C>T	CCDS5031.1																																																																																				0.448	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			131	505	0	0	0	1	0	131	505					A	93967929	G	A	93967929	2	1	79	1	0	0	0	0	0	0	0	1	5190	1219	43	2		2	EPHA7	6	93967929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2713596	93967929	77147138	7678	17995											
EPHA7	2045	broad.mit.edu	37	chr6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttgttgtgctttagaatCcagcagtagtactgaaaaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	37	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTTAGAATCCAGCAGTAGT	0.318																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(109-111)Gat>Aat		EPH receptor A7							90	87	88					6																	94124474		2203	4298	6501	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94124474C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.109G>A	6.37:g.94124474C>T	ENSP00000358309:p.Asp37Asn					EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	2	293	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	37					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.109G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578356	0.65878	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.100727	0.64402	D	0.000006	T	0.11965	0.0291	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.39443	0.008;0.078;0.623;0.674	B;B;B;B	0.42827	0.007;0.055;0.278;0.399	T	0.01030	-1.1475	10	0.72032	D	0.01	.	17.5467	0.87864	0.0:1.0:0.0:0.0	.	37;37;37;37	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	37	ENSP00000358309:D37N;ENSP00000358303:D37N	ENSP00000358303:D37N	D	-	1	0	EPHA7	94181195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.672000	0.90937	0.555000	0.69702	GAT		0.318	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			20	152	0	0	0	1	0	20	152					T	94124474	C	T	94124474	3	4	79	1	0	0	0	0	1	0	0	0	5190	855	30	2	2951	2	EPHA7	6	94124474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156545	94124474	76990593	7679	17996											
KLHL32	114792	broad.mit.edu	37	chr6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtcgctatgacccccGcagtaattcctgggcagaga	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567																																						ENST00000369261.4																			1	Substitution - Missense(1)	p.R374H(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1120-1122)cGc>cAc		kelch-like family member 32							59	56	57					6																	97562152		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97562152G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1121G>A	6.37:g.97562152G>A	ENSP00000358265:p.Arg374His					KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H	p.R374H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1484	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	374					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1121G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	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;0.998;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	KLHL32	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC		0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		31	166	0	0	0	1	0	31	166					A	97562152	G	A	97562152	3	1	79	1	0	0	0	0	1	0	0	0	8416	1087	38	1	1143	1	KLHL32	6	97562152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3437678	97562152	73552915	7680	17997											
KLHL32	114792	broad.mit.edu	37	chr6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatgttcttggaggcaatGacctagactacaataatgac	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	503										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGAGGCAATGACCTAGACTA	0.453																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1507-1509)Gac>Aac		kelch-like family member 32							160	143	149					6																	97578726		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97578726G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1507G>A	6.37:g.97578726G>A	ENSP00000358265:p.Asp503Asn					KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N	p.D503N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	9	1870	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	503					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1507G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106944	0.77096	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.96	4.96	0.65561	Kelch-type beta propeller (1);	0.049990	0.85682	N	0.000000	T	0.68988	0.3061	L	0.37750	1.13	0.80722	D	1	B;B;B;P	0.42620	0.001;0.22;0.0;0.785	B;B;B;P	0.44946	0.008;0.19;0.012;0.465	T	0.74200	-0.3742	10	0.59425	D	0.04	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	434;467;503;59	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	N	503;467;59;434	ENSP00000358265:D503N;ENSP00000440382:D467N;ENSP00000445453:D59N;ENSP00000441527:D434N	ENSP00000358265:D503N	D	+	1	0	KLHL32	97685447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.576000	0.86940	0.609000	0.83330	GAC		0.453	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		49	521	0	0	0	1	0	49	521					A	97578726	G	A	97578726	3	1	79	1	0	0	0	0	1	0	0	0	8416	1290	45	2	1537	2	KLHL32	6	97578726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	97578726	73536341	7681	17998											
C6orf167	253714	broad.mit.edu	37	chr6	97621034	97621034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcaccaaggtattccaagGactttgtgaccatggcagat	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97621034G>A	ENST00000275053.4	-	19	3009	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MMS22L_ENST00000369251.2_Missense_Mutation_p.S875F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	915					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTATTCCAAGGACTTTGTGAC	0.368																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2743-2745)tCc>tTc		MMS22-like, DNA repair protein							61	63	63					6																	97621034		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97621034G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2744C>T	6.37:g.97621034G>A	ENSP00000275053:p.Ser915Phe					MMS22L_ENST00000369251.2_Missense_Mutation_p.S875F	p.S915F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			19	3009	-			915					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2744C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604459	0.66445	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34072	1.52;1.38	5.43	5.43	0.79202	.	0.246767	0.41712	D	0.000838	T	0.33323	0.0859	L	0.54323	1.7	0.29392	N	0.86256	D;P	0.59767	0.986;0.911	P;P	0.51135	0.66;0.461	T	0.15263	-1.0443	10	0.66056	D	0.02	-17.6137	15.1347	0.72555	0.0:0.141:0.859:0.0	.	875;915	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	F	915;875	ENSP00000275053:S915F;ENSP00000358254:S875F	ENSP00000275053:S915F	S	-	2	0	MMS22L	97727755	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.526000	0.53509	2.693000	0.91896	0.655000	0.94253	TCC		0.368	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		9	315	0	0	0	1	0	9	315					A	97621034	G	A	97621034	3	1	79	1	0	0	0	0	1	0	0	0	2349	1174	41	2	1015	2	C6orf167	6	97621034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42308	97621034	73494033	7682	17999											
C6orf167	253714	broad.mit.edu	37	chr6	97634384	97634384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgacctgcagctgcaTccgcaagttgtgagaaaggc	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97634384T>G	ENST00000275053.4	-	15	2487	c.2222A>C	c.(2221-2223)gAt>gCt	p.D741A	MMS22L_ENST00000369251.2_Missense_Mutation_p.D701A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	741					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCAGCTGCATCCGCAAGTTG	0.393																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2221-2223)gAt>gCt		MMS22-like, DNA repair protein							51	50	50					6																	97634384		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97634384T>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2222A>C	6.37:g.97634384T>G	ENSP00000275053:p.Asp741Ala					MMS22L_ENST00000369251.2_Missense_Mutation_p.D701A	p.D741A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			15	2487	-			741					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2222A>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307784	0.60305	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.29655	1.89;1.56	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.71581	2.175	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.52388	-0.8582	10	0.72032	D	0.01	-5.8147	14.969	0.71217	0.0:0.0:0.0:1.0	.	701;741	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	A	741;701	ENSP00000275053:D741A;ENSP00000358254:D701A	ENSP00000275053:D741A	D	-	2	0	MMS22L	97741105	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.257000	0.58816	2.006000	0.58801	0.477000	0.44152	GAT		0.393	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		13	199	0	0	0	1	0	13	199					G	97634384	T	G	97634384	3	3	79	1	0	0	0	0	1	0	0	0	2349	1435	50	4	1553	4	C6orf167	6	97634384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13350	97634384	73480683	7683	18000											
POU3F2	5454	broad.mit.edu	37	chr6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtaacaggagacagaaagaGaaaaggatgacccctcccgg	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	409					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GACAGAAAGAGAAAAGGATGA	0.627																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(1225-1227)gaG>gaT		POU class 3 homeobox 2							53	64	60					6																	99283976		2203	4300	6503	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283976G>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1227G>T	6.37:g.99283976G>T	ENSP00000329170:p.Glu409Asp						p.E409D	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1397	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	409					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.1227G>T	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727850	0.69074	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.96522	-4.04	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000003	D	0.96191	0.8758	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	D	0.96662	0.9490	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:1.0:0.0	.	409	P20265	PO3F2_HUMAN	D	409;342	ENSP00000329170:E409D	ENSP00000329170:E409D	E	+	3	2	POU3F2	99390697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.330000	0.79161	0.555000	0.69702	GAG		0.627	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			76	412	1	0	8.16569e-41	1	9.9098e-41	76	412					T	99283976	G	T	99283976	3	4	79	1	0	0	0	0	1	0	0	0	12317	933	33	3	1229	3	POU3F2	6	99283976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1649592	99283976	71831091	7684	18001											
FBXL4	26235	broad.mit.edu	37	chr6	99347191	99347191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttaaggctgcataactTggcaatgtggttgaaagctt	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347191T>C	ENST00000369244.2	-	7	1698	c.1270A>G	c.(1270-1272)Aag>Gag	p.K424E	FBXL4_ENST00000229971.1_Missense_Mutation_p.K424E	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	424					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTGCATAACTTGGCAATGTGG	0.383																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1270-1272)Aag>Gag		F-box and leucine-rich repeat protein 4							164	148	153					6																	99347191		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99347191T>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1270A>G	6.37:g.99347191T>C	ENSP00000358247:p.Lys424Glu					FBXL4_ENST00000229971.1_Missense_Mutation_p.K424E	p.K424E			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	7	1698	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	424					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1270A>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103515	0.76983	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.17691	2.26;2.26	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	L	0.51853	1.615	0.58432	D	0.999999	D;P	0.76494	0.999;0.63	D;B	0.80764	0.994;0.121	T	0.06391	-1.0829	10	0.17832	T	0.49	.	10.4819	0.44698	0.145:0.0:0.0:0.855	.	424;424	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	E	424	ENSP00000358247:K424E;ENSP00000229971:K424E	ENSP00000229971:K424E	K	-	1	0	FBXL4	99453912	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.829000	0.69316	2.007000	0.58848	0.460000	0.39030	AAG		0.383	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			13	623	0	0	0	1	0	13	623					C	99347191	T	C	99347191	3	2	79	1	0	0	0	0	1	0	0	0	5746	1821	63	4	611	4	FBXL4	6	99347191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63215	99347191	71767876	7685	18002											
FBXL4	26235	broad.mit.edu	37	chr6	99347219	99347219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaaagcttgaggtggTagcttatcacaggaggagag	16	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	414					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTTGAGGTGGTAGCTTATCAC	0.383																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1240-1242)ctA>ctG		F-box and leucine-rich repeat protein 4							168	151	156					6																	99347219		2203	4300	6503	SO:0001819	synonymous_variant	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99347219T>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1242A>G	6.37:g.99347219T>C						FBXL4_ENST00000229971.1_Silent_p.L414L	p.L414L			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	7	1670	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	414					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	c.1242A>G	CCDS5041.1																																																																																				0.383	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			109	507	0	0	0	1	0	109	507					C	99347219	T	C	99347219	2	2	79	1	0	0	0	0	0	0	0	1	5746	1625	57	4		4	FBXL4	6	99347219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	99347219	71767848	7686	18003											
FBXL4	26235	broad.mit.edu	37	chr6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataataaaacatggtcagaaCtgttaacatgggaaagaccg	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	10					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGGTCAGAACTGTTAACATG	0.428																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(28-30)Gtt>Att		F-box and leucine-rich repeat protein 4							118	113	115					6																	99374837		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374837C>T	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.28G>A	6.37:g.99374837C>T	ENSP00000358247:p.Val10Ile					FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	p.V10I			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	4	456	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	10					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.28G>A	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092630	0.56075	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15017	2.46;2.46	5.52	4.66	0.58398	.	0.057782	0.64402	D	0.000001	T	0.09555	0.0235	L	0.51422	1.61	0.47547	D	0.999454	B	0.34372	0.451	B	0.31869	0.137	T	0.03354	-1.1045	10	0.66056	D	0.02	.	14.7707	0.69675	0.0:0.9303:0.0:0.0697	.	10	Q9UKA2	FBXL4_HUMAN	I	10	ENSP00000358247:V10I;ENSP00000229971:V10I	ENSP00000229971:V10I	V	-	1	0	FBXL4	99481558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	GTT		0.428	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			18	555	0	0	0	1	0	18	555					T	99374837	C	T	99374837	3	4	79	1	0	0	0	0	1	0	0	0	5746	565	20	2	1865	2	FBXL4	6	99374837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27618	99374837	71740230	7687	18004											
C6orf168	84553	broad.mit.edu	37	chr6	99781260	99781260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaccatcttggtcaccGctctggagatggctctttca	8	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781260G>A	ENST00000389677.5	-	3	848	c.566C>T	c.(565-567)gCg>gTg	p.A189V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	189						integral component of membrane (GO:0016021)											CTTGGTCACCGCTCTGGAGAT	0.473																																						ENST00000389677.5																			0											c.(565-567)gCg>gTg		failed axon connections homolog (Drosophila)							112	108	110					6																	99781260		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99781260G>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.566C>T	6.37:g.99781260G>A	ENSP00000374328:p.Ala189Val					FAXC_ENST00000538471.1_Intron	p.A189V	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN			3	848	-			189					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.566C>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215320	0.95104	.	.	ENSG00000146267	ENST00000389677	T	0.14391	2.51	5.65	5.65	0.86999	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00961	-1.1499	10	0.48119	T	0.1	-6.0637	20.0965	0.97849	0.0:0.0:1.0:0.0	.	189	Q5TGI0	CF168_HUMAN	V	189	ENSP00000374328:A189V	ENSP00000374328:A189V	A	-	2	0	C6orf168	99887981	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	GCG		0.473	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		70	307	0	0	0	1	0	70	307					A	99781260	G	A	99781260	3	1	79	1	0	0	0	0	1	0	0	0	2350	1087	38	1	679	1	C6orf168	6	99781260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406423	99781260	71333807	7688	18005											
C6orf168	84553	broad.mit.edu	37	chr6	99781355	99781355	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatgaattctgtgccagaAactttttcatgattatattc	5	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781355A>G	ENST00000389677.5	-	3	753	c.471T>C	c.(469-471)gtT>gtC	p.V157V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	157						integral component of membrane (GO:0016021)											CTGTGCCAGAAACTTTTTCAT	0.373																																						ENST00000389677.5																			0											c.(469-471)gtT>gtC		failed axon connections homolog (Drosophila)							71	71	71					6																	99781355		2203	4300	6503	SO:0001819	synonymous_variant	84553							g.chr6:99781355A>G	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.471T>C	6.37:g.99781355A>G						FAXC_ENST00000538471.1_Intron	p.V157V	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN			3	753	-			157					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	c.471T>C	CCDS34500.1																																																																																				0.373	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		71	216	0	0	0	1	0	71	216					G	99781355	A	G	99781355	2	3	79	1	0	0	0	0	0	0	0	1	2350	1	1	4		4	C6orf168	6	99781355	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95	99781355	71333712	7689	18006											
SFRS18	25957	broad.mit.edu	37	chr6	99852519	99852519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatctttggctacgtaataAatttcttcatctgtgacatc	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99852519A>C	ENST00000369239.5	-	9	1266	c.1062T>G	c.(1060-1062)atT>atG	p.I354M	PNISR_ENST00000438806.1_Missense_Mutation_p.I354M	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACGTAATAAATTTCTTCAT	0.338																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)atT>atG		PNN-interacting serine/arginine-rich protein							121	117	118					6																	99852519		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99852519A>C	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1062T>G	6.37:g.99852519A>C	ENSP00000358242:p.Ile354Met					PNISR_ENST00000438806.1_Missense_Mutation_p.I354M	p.I354M	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			9	1266	-			354					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1062T>G	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572816	0.45798	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43294	0.95;0.95	5.44	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.65677	2.01	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.39901	-0.9591	10	0.48119	T	0.1	.	4.4351	0.11547	0.6821:0.1275:0.0683:0.1221	.	354	Q8TF01	PNISR_HUMAN	M	354	ENSP00000358242:I354M;ENSP00000387997:I354M	ENSP00000358242:I354M	I	-	3	3	PNISR	99959240	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.715000	0.47210	0.318000	0.23185	-0.332000	0.08345	ATT		0.338	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		48	214	0	0	0	1	0	48	214					C	99852519	A	C	99852519	3	2	79	1	0	0	0	0	1	0	0	0	14224	10	1	4	1371	4	SFRS18	6	99852519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71164	99852519	71262548	7690	18007											
SFRS18	25957	broad.mit.edu	37	chr6	99853919	99853919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctaccatttgatactcTttctcctcttcagtcatctc	2	14	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853919T>G	ENST00000369239.5	-	8	1194	c.990A>C	c.(988-990)aaA>aaC	p.K330N	PNISR_ENST00000438806.1_Missense_Mutation_p.K330N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	330						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGATACTCTTTCTCCTCTT	0.383																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(988-990)aaA>aaC		PNN-interacting serine/arginine-rich protein							203	181	188					6																	99853919		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99853919T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.990A>C	6.37:g.99853919T>G	ENSP00000358242:p.Lys330Asn					PNISR_ENST00000438806.1_Missense_Mutation_p.K330N	p.K330N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1194	-			330					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.990A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475283	0.63737	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.50548	0.74;0.74	5.68	0.679	0.17975	.	0.091899	0.64402	D	0.000001	T	0.23926	0.0579	L	0.50333	1.59	0.52099	D	0.999942	P	0.48503	0.911	B	0.42087	0.375	T	0.03268	-1.1054	10	0.44086	T	0.13	.	8.7921	0.34857	0.0:0.5522:0.0:0.4478	.	330	Q8TF01	PNISR_HUMAN	N	330	ENSP00000358242:K330N;ENSP00000387997:K330N	ENSP00000358242:K330N	K	-	3	2	PNISR	99960640	0.986000	0.35501	1.000000	0.80357	0.866000	0.49608	0.083000	0.14871	0.167000	0.19631	-0.290000	0.09829	AAA		0.383	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		45	267	0	0	0	1	0	45	267					G	99853919	T	G	99853919	3	3	79	1	0	0	0	0	1	0	0	0	14224	1606	56	4	1447	4	SFRS18	6	99853919	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1400	99853919	71261148	7691	18008											
SFRS18	25957	broad.mit.edu	37	chr6	99853950	99853950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatctcagggtcactgTgctcttcttgaggaactggg	12	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853950T>C	ENST00000369239.5	-	8	1163	c.959A>G	c.(958-960)cAc>cGc	p.H320R	PNISR_ENST00000438806.1_Missense_Mutation_p.H320R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGTCACTGTGCTCTTCTTG	0.388																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(958-960)cAc>cGc		PNN-interacting serine/arginine-rich protein							216	191	199					6																	99853950		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99853950T>C	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.959A>G	6.37:g.99853950T>C	ENSP00000358242:p.His320Arg					PNISR_ENST00000438806.1_Missense_Mutation_p.H320R	p.H320R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1163	-			320					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.959A>G	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404489	0.25378	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.40756	1.02;1.02	5.68	5.68	0.88126	.	0.308382	0.30492	N	0.009513	T	0.11965	0.0291	N	0.08118	0	0.39400	D	0.966574	B	0.06786	0.001	B	0.08055	0.003	T	0.10823	-1.0613	10	0.17369	T	0.5	.	16.2269	0.82300	0.0:0.0:0.0:1.0	.	320	Q8TF01	PNISR_HUMAN	R	320	ENSP00000358242:H320R;ENSP00000387997:H320R	ENSP00000358242:H320R	H	-	2	0	PNISR	99960671	1.000000	0.71417	0.453000	0.27007	0.266000	0.26442	5.595000	0.67563	2.296000	0.77279	0.482000	0.46254	CAC		0.388	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		46	277	0	0	0	1	0	46	277					C	99853950	T	C	99853950	3	2	79	1	0	0	0	0	1	0	0	0	14224	1696	59	4	1478	4	SFRS18	6	99853950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31	99853950	71261117	7692	18009											
USP45	85015	broad.mit.edu	37	chr6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgattcattatcagccGctttcaaacctagcaaaaca	5	12	3	1	rs375582786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	775	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATTATCAGCCGCTTTCAAACC	0.368																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2323-2325)gCg>gTg		ubiquitin specific peptidase 45		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91	92	92		2324	4.5	0.9	6		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP45	NM_001080481.1	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	775/815	99883713	3,13003	2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99883713G>A	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2324C>T	6.37:g.99883713G>A	ENSP00000333376:p.Ala775Val					USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	p.A775V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	18	2856	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	775					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2324C>T	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743813	0.30865	4.54E-4	1.16E-4	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.43688	2.21;3.69;3.69;0.94;3.69	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.109289	0.64402	D	0.000008	T	0.13243	0.0321	N	0.19112	0.55	0.80722	D	1	B;B	0.32939	0.275;0.391	B;B	0.32465	0.146;0.031	T	0.05784	-1.0864	10	0.52906	T	0.07	.	7.6188	0.28173	0.0:0.0704:0.1431:0.7865	.	775;455	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	455;775;775;68;727	ENSP00000376495:A455V;ENSP00000424372:A775V;ENSP00000333376:A775V;ENSP00000439569:A68V;ENSP00000358236:A727V	ENSP00000333376:A775V	A	-	2	0	USP45	99990434	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	4.699000	0.61796	0.970000	0.38263	-0.264000	0.10439	GCG		0.368	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		72	292	0	0	0	1	0	72	292					A	99883713	G	A	99883713	3	1	79	1	0	0	0	0	1	0	0	0	17130	1087	38	1	124	1	USP45	6	99883713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29763	99883713	71231354	7693	18010											
USP45	85015	broad.mit.edu	37	chr6	99893884	99893884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcttcccctctaaaaaAcataaattatttgaaatatt	2	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	588	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTCTAAAAAACATAAATTAT	0.353																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1762-1764)tgT>tgC		ubiquitin specific peptidase 45							35	39	38					6																	99893884		2202	4300	6502	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99893884A>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1764T>C	6.37:g.99893884A>G						USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000539675.1_Intron	p.C588C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	14	2296	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	588					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.1764T>C	CCDS34501.1																																																																																				0.353	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		66	228	0	0	0	1	0	66	228					G	99893884	A	G	99893884	2	3	79	1	0	0	0	0	0	0	0	1	17130	41	2	4		4	USP45	6	99893884	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10171	99893884	71221183	7694	18011											
PRDM13	59336	broad.mit.edu	37	chr6	100055036	100055036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcagaccgcagggaGcccgggcctaagaaaaaggt	13	11	1	2	rs201201921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	42	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACCGCAGGGAGCCCGGGCCTA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16071	0.0		0.001	False		,,,				2504	0.0					ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(124-126)gaG>gaA		PR domain containing 13							47	56	53					6																	100055036		2019	4188	6207	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100055036G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.126G>A	6.37:g.100055036G>A						PRDM13_ENST00000369215.4_Silent_p.E42E	p.E42E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	1	387	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	42			SET.		Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.126G>A	CCDS43487.1																																																																																				0.622	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			61	353	0	0	0	1	0	61	353					A	100055036	G	A	100055036	2	1	79	1	0	0	0	0	0	0	0	1	12501	962	34	2		2	PRDM13	6	100055036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161152	100055036	71060031	7695	18012											
PRDM13	59336	broad.mit.edu	37	chr6	100057116	100057116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggagctgacagtgtgGtattctaactccttggctca	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369215.4	+	3	635	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	110	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGACAGTGTGGTATTCTAACT	0.522																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(358-360)tgG>tgT		PR domain containing 13							73	79	77					6																	100057116		2124	4250	6374	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057116G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.330G>T	6.37:g.100057116G>T	ENSP00000358217:p.Trp110Cys					PRDM13_ENST00000369215.4_Missense_Mutation_p.W110C	p.W120C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	621	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	110					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.360G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509782	0.85282	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85702	-2.02;-2.02	5.65	5.65	0.86999	SET domain (2);	0.000000	0.36893	N	0.002347	D	0.92828	0.7719	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93241	0.6626	10	0.87932	D	0	-6.7675	19.3826	0.94543	0.0:0.0:1.0:0.0	.	110	Q9H4Q3	PRD13_HUMAN	C	110;120	ENSP00000358217:W110C;ENSP00000358216:W120C	ENSP00000358216:W120C	W	+	3	0	PRDM13	100163837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.374000	0.97172	2.689000	0.91719	0.558000	0.71614	TGG		0.522	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			6	168	1	0	4.096e-09	1	4.30383e-09	6	168					T	100057116	G	T	100057116	3	4	79	1	0	0	0	0	1	0	0	0	12501	1270	44	3	340	3	PRDM13	6	100057116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2080	100057116	71057951	7696	18013											
PRDM13	59336	broad.mit.edu	37	chr6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtcgcggcggcgggaGgcaccgggggcggcggcagc	23	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	555	Poly-Gly.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ggcggcgggaggcaccggggg	0.701																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1693-1695)Ggc>Tgc		PR domain containing 13							7	12	10					6																	100062174		1962	4076	6038	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062174G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1663G>T	6.37:g.100062174G>T	ENSP00000358217:p.Gly555Cys					PRDM13_ENST00000369215.4_Missense_Mutation_p.G555C	p.G565C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1954	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	555			Poly-Gly.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1693G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159080	0.21454	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.08546	3.08;3.08	3.73	0.86	0.19042	.	0.843515	0.09643	N	0.774793	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	P	0.50369	0.934	B	0.40901	0.343	T	0.42310	-0.9459	10	0.72032	D	0.01	-4.5986	4.1491	0.10230	0.1901:0.0:0.4939:0.316	.	555	Q9H4Q3	PRD13_HUMAN	C	555;565	ENSP00000358217:G555C;ENSP00000358216:G565C	ENSP00000358216:G565C	G	+	1	0	PRDM13	100168895	0.918000	0.31147	0.000000	0.03702	0.229000	0.25112	0.923000	0.28757	0.053000	0.16036	0.561000	0.74099	GGC		0.701	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			12	106	1	0	5.16669e-11	1	5.49905e-11	12	106					T	100062174	G	T	100062174	3	4	79	1	0	0	0	0	1	0	0	0	12501	1000	35	3	1677	3	PRDM13	6	100062174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5058	100062174	71052893	7697	18014											
MCHR2	84539	broad.mit.edu	37	chr6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatgatggcactacaggCaaattggttacaagtatcca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCACTACAGGCAAATTGGTTA	0.468																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(355-357)Gcc>Acc		melanin-concentrating hormone receptor 2							151	161	157					6																	100395675		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395675C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.355G>A	6.37:g.100395675C>T	ENSP00000281806:p.Ala119Thr					MCHR2_ENST00000445970.1_Missense_Mutation_p.A119T|MCHR2_ENST00000369212.1_Missense_Mutation_p.A119T	p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	669	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	119					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.355G>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.673964	0.14841	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.76060	-0.99;-0.99;-0.99	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.50017	0.1591	L	0.35249	1.045	0.40742	D	0.982849	B	0.27140	0.169	B	0.38194	0.267	T	0.51834	-0.8655	10	0.02654	T	1	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	119	Q969V1	MCHR2_HUMAN	T	119	ENSP00000403490:A119T;ENSP00000281806:A119T;ENSP00000358214:A119T	ENSP00000281806:A119T	A	-	1	0	MCHR2	100502396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.089000	0.63090	0.650000	0.86243	GCC		0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		141	748	0	0	0	1	0	141	748					T	100395675	C	T	100395675	3	4	79	1	0	0	0	0	1	0	0	0	9424	710	25	2	683	2	MCHR2	6	100395675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333501	100395675	70719392	7698	18015											
SIM1	6492	broad.mit.edu	37	chr6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccggcgttacgcttggCcaagacgcacttcatcctca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	169					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(505-507)Gcc>Acc		single-minded family bHLH transcription factor 1							49	43	45					6																	100897277		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100897277C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.505G>A	6.37:g.100897277C>T	ENSP00000358210:p.Ala169Thr					SIM1_ENST00000262901.4_Missense_Mutation_p.A169T	p.A169T			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1287	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	169					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.505G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398956	0.83120	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.13307	2.6;2.6	5.54	5.54	0.83059	.	0.287742	0.38058	N	0.001823	T	0.18467	0.0443	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	10	0.10636	T	0.68	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	169	P81133	SIM1_HUMAN	T	169	ENSP00000358210:A169T;ENSP00000262901:A169T	ENSP00000262901:A169T	A	-	1	0	SIM1	101003998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.602000	0.87976	0.655000	0.94253	GCC		0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		21	130	0	0	0	1	0	21	130					T	100897277	C	T	100897277	3	4	79	1	0	0	0	0	1	0	0	0	14373	739	26	2	1823	2	SIM1	6	100897277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501602	100897277	70217790	7699	18016											
ASCC3	10973	broad.mit.edu	37	chr6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtagtccagcatgatGcattcctatcccgaaagcaa	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1619	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGCATGATGCATTCCTATC	0.383																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4855-4857)Cat>Tat		activating signal cointegrator 1 complex subunit 3							105	96	99					6																	101054895		2202	4300	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054895G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4855C>T	6.37:g.101054895G>A	ENSP00000358159:p.His1619Tyr						p.H1619Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	31	5199	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1619			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4855C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923127	0.92319	.	.	ENSG00000112249	ENST00000369162	D	0.91843	-2.92	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93604	0.6933	10	0.21014	T	0.42	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1619	Q8N3C0	HELC1_HUMAN	Y	1619	ENSP00000358159:H1619Y	ENSP00000358159:H1619Y	H	-	1	0	ASCC3	101161616	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.693000	0.98684	2.753000	0.94483	0.585000	0.79938	CAT		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		49	230	0	0	0	1	0	49	230					A	101054895	G	A	101054895	3	1	79	1	0	0	0	0	1	0	0	0	1034	1319	46	2	1801	2	ASCC3	6	101054895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157618	101054895	70060172	7700	18017											
ASCC3	10973	broad.mit.edu	37	chr6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctaacaggcttttctgTgtgtgatgagataaaatttg	9	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1480	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTTTCTGTGTGTGATGAG	0.373																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4438-4440)Aca>Gca		activating signal cointegrator 1 complex subunit 3							113	109	110					6																	101075801		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075801T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4438A>G	6.37:g.101075801T>C	ENSP00000358159:p.Thr1480Ala						p.T1480A	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	28	4782	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1480			Helicase ATP-binding 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4438A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600735	0.87055	.	.	ENSG00000112249	ENST00000369162	T	0.58060	0.36	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59397	-0.7462	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1480	Q8N3C0	HELC1_HUMAN	A	1480	ENSP00000358159:T1480A	ENSP00000358159:T1480A	T	-	1	0	ASCC3	101182522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACA		0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		52	242	0	0	0	1	0	52	242					C	101075801	T	C	101075801	3	2	79	1	0	0	0	0	1	0	0	0	1034	1696	59	4	2230	4	ASCC3	6	101075801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20906	101075801	70039266	7701	18018											
ASCC3	10973	broad.mit.edu	37	chr6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgttgtaggcagtcTcaaacactattgactggatt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	486	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGGCAGTCTCAAACACTAT	0.398																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1456-1458)gAg>gGg		activating signal cointegrator 1 complex subunit 3							178	162	167					6																	101215160		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101215160T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1457A>G	6.37:g.101215160T>C	ENSP00000358159:p.Glu486Gly					ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	9	1801	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	486			Helicase ATP-binding 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1457A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472368	0.63737	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.15952	2.38;2.38	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117651	0.56097	D	0.000029	T	0.17023	0.0409	M	0.83603	2.65	0.80722	D	1	B;B	0.33940	0.183;0.433	B;B	0.35353	0.184;0.201	T	0.02257	-1.1187	10	0.52906	T	0.07	.	15.4376	0.75157	0.0:0.0:0.0:1.0	.	486;486	E7EW23;Q8N3C0	.;HELC1_HUMAN	G	486	ENSP00000358159:E486G;ENSP00000430769:E486G	ENSP00000358159:E486G	E	-	2	0	ASCC3	101321881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.122000	0.65172	0.482000	0.46254	GAG		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		107	496	0	0	0	1	0	107	496					C	101215160	T	C	101215160	3	2	79	1	0	0	0	0	1	0	0	0	1034	1551	54	4	5287	4	ASCC3	6	101215160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	139359	101215160	69899907	7702	18019											
GRIK2	2898	broad.mit.edu	37	chr6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacccagacttctcttcaCtcagccgtgccattttagac	5	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000421544.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000369138.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	156					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)			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)	CTTCTCTTCACTCAGCCGTGC	0.468																																						ENST00000369138.1																			0				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						c.(466-468)Ctc>Atc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						96	96	96					6																	102074437		2203	4300	6503	SO:0001583	missense	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.chr6:102074437C>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.466C>A	6.37:g.102074437C>A	ENSP00000397026:p.Leu156Ile					GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000421544.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I	p.L156I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	956	+		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)	156					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.466C>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352039	0.41700	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.79	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.31752	0.955	0.40380	D	0.979436	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.30401	0.07;0.115;0.049	T	0.65265	-0.6210	10	0.19590	T	0.45	.	16.1759	0.81851	0.1345:0.8655:0.0:0.0	.	156;156;156	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	156;156;156;156;156;156;156;107;118	ENSP00000397026:L156I;ENSP00000405596:L156I;ENSP00000358134:L156I;ENSP00000351128:L156I;ENSP00000358133:L156I;ENSP00000313276:L156I;ENSP00000358130:L107I	ENSP00000313276:L156I	L	+	1	0	GRIK2	102181130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	CTC		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			75	355	1	0	3.00167e-28	1	3.48911e-28	75	355					A	102074437	C	A	102074437	3	1	79	1	0	0	0	0	1	0	0	0	6804	565	20	3	476	3	GRIK2	6	102074437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859277	102074437	69040630	7703	18020											
GRIK2	2898	broad.mit.edu	37	chr6	102266352	102266352	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttctttgattgttaccacCattttggtaagtatttgctt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000421544.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000369138.1_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	437					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)			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)	TTGTTACCACCATTTTGGTAA	0.383																																						ENST00000369138.1																			0				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						c.(1309-1311)acC>acA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						181	163	169					6																	102266352		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:102266352C>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.1311C>A	6.37:g.102266352C>A						GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000421544.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T	p.T437T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1801	+		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)	437					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.1311C>A	CCDS5048.1																																																																																				0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			27	122	1	0	1.17739e-12	1	1.26592e-12	27	122					A	102266352	C	A	102266352	2	1	79	1	0	0	0	0	0	0	0	1	6804	581	21	3		3	GRIK2	6	102266352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191915	102266352	68848715	7704	18021											
GRIK2	2898	broad.mit.edu	37	chr6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagatagaatatggagCagtagaggatggtgcaacca	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000421544.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000369138.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	684					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)			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)	GAATATGGAGCAGTAGAGGAT	0.393																																						ENST00000369138.1																			0				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						c.(2050-2052)gCa>gTa		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						99	92	94					6																	102376473		2203	4300	6503	SO:0001583	missense	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.chr6:102376473C>T		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.2051C>T	6.37:g.102376473C>T	ENSP00000397026:p.Ala684Val					GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V	p.A684V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	13	2541	+		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)	684					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2051C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625228	0.46840	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.9	5.9	0.94986	Ionotropic glutamate receptor (2);	0.056708	0.64402	D	0.000001	T	0.02455	0.0075	N	0.03881	-0.34	0.45227	D	0.998232	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.15052	0.012;0.012;0.007	T	0.51537	-0.8693	10	0.48119	T	0.1	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	684;684;684	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	684;684;684;608;684;635	ENSP00000397026:A684V;ENSP00000405596:A684V;ENSP00000358134:A684V;ENSP00000358133:A608V;ENSP00000313276:A684V;ENSP00000358130:A635V	ENSP00000313276:A684V	A	+	2	0	GRIK2	102483166	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	5.612000	0.67681	2.786000	0.95864	0.563000	0.77884	GCA		0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			38	221	0	0	0	1	0	38	221					T	102376473	C	T	102376473	3	4	79	1	0	0	0	0	1	0	0	0	6804	710	25	2	2101	2	GRIK2	6	102376473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110121	102376473	68738594	7705	18022											
HACE1	57531	broad.mit.edu	37	chr6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttttccttaccaatTcatattcatcaaaaagctgt	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.E565A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	780	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCTTACCAATTCATATTCATC	0.343																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2338-2340)gAa>gCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							76	73	74					6																	105198220		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198220T>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2339A>C	6.37:g.105198220T>G	ENSP00000262903:p.Glu780Ala					HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.E565A	p.E780A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2615	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	780			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2339A>C	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443659	0.83993	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.89840	3.065	0.34930	D	0.749238	D;D;D;D	0.89917	1.0;1.0;0.979;0.974	D;D;D;D	0.97110	1.0;0.999;0.973;0.953	D	0.85522	0.1204	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	565;269;780;433	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	A	780;565	ENSP00000262903:E780A;ENSP00000358121:E565A	ENSP00000262903:E780A	E	-	2	0	HACE1	105304913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.000000	0.58554	0.460000	0.39030	GAA		0.343	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		31	105	0	0	0	1	0	31	105					G	105198220	T	G	105198220	3	3	79	1	0	0	0	0	1	0	0	0	6970	1783	62	4	410	4	HACE1	6	105198220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2821747	105198220	65916847	7706	18023											
HACE1	57531	broad.mit.edu	37	chr6	105198346	105198346	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaagctggacgtactccGcctgttgaaaaagaagtttt	9	8	0	2	rs374813736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GACGTACTCCGCCTGTTGAAA	0.338																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.e20-1		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1		G	VAL/ALA	0,4406		0,0,2203	82	75	78		2213	4.1	1	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	HACE1	NM_020771.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	738/910	105198346	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198346G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2212-1C>T	6.37:g.105198346G>A						HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523_splice	p.A738_splice	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2489	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	738			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	c.2211_splice	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001598	0.35320	0.0	1.16E-4	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58358	0.34;0.34	5.0	4.11	0.48088	HECT (4);	0.104471	0.64402	D	0.000004	T	0.27205	0.0667	N	0.21545	0.675	0.28259	N	0.924912	P;B;D;D	0.56035	0.67;0.318;0.974;0.968	P;B;P;B	0.46917	0.531;0.083;0.469;0.339	T	0.09684	-1.0663	10	0.27082	T	0.32	.	14.9715	0.71238	0.0:0.0:0.8559:0.1441	.	523;227;738;391	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	V	738;523	ENSP00000262903:A738V;ENSP00000358121:A523V	ENSP00000262903:A738V	A	-	2	0	HACE1	105305039	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	6.021000	0.70832	1.196000	0.43129	0.563000	0.77884	GCG		0.338	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation	36	144	0	0	0	1	0	36	144					A	105198346	G	A	105198346	5	1	79	1	0	0	0	0	0	0	1	0	6970	1101	38	1	536	1	HACE1	6	105198346	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	105198346	65916721	7707	18024											
BVES	11149	broad.mit.edu	37	chr6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaatgtatttggagatGccggttcaaaaacgtcatca	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	349					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTGGAGATGCCGGTTCAAA	0.453																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1045-1047)gCa>gTa		blood vessel epicardial substance							223	192	202					6																	105549001		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105549001G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1046C>T	6.37:g.105549001G>A	ENSP00000313172:p.Ala349Val					BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			8	1262	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	349					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.1046C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726162	0.30593	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17691	2.26;2.26;2.26	5.3	-5.02	0.02982	.	1.955520	0.02132	N	0.056510	T	0.01287	0.0042	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37641	-0.9697	10	0.11794	T	0.64	-11.7194	8.1452	0.31108	0.2685:0.0:0.5878:0.1437	.	349	Q8NE79	POPD1_HUMAN	V	349	ENSP00000313172:A349V;ENSP00000337259:A349V;ENSP00000397310:A349V	ENSP00000313172:A349V	A	-	2	0	BVES	105655694	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.463000	0.02361	-0.393000	0.07739	-0.300000	0.09419	GCA		0.453	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		77	274	0	0	0	1	0	77	274					A	105549001	G	A	105549001	3	1	79	1	0	0	0	0	1	0	0	0	1579	1319	46	2	40	2	BVES	6	105549001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350655	105549001	65566066	7708	18025											
PREP	5550	broad.mit.edu	37	chr6	105726037	105726037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatggaatccagtcgacGttcaggcaccgcgcgatgaa	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	705					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(2113-2115)aaC>aaT		prolyl endopeptidase	Oxytocin(DB00107)						188	180	183					6																	105726037		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105726037G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.2115C>T	6.37:g.105726037G>A							p.N705N	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			15	2307	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	705					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.2115C>T	CCDS5053.1																																																																																				0.552	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			200	857	0	0	0	1	0	200	857					A	105726037	G	A	105726037	2	1	79	1	0	0	0	0	0	0	0	1	12521	1136	40	1		1	PREP	6	105726037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177036	105726037	65389030	7709	18026											
PRDM1	639	broad.mit.edu	37	chr6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcattaaaaacaaaagaaAcatgaccggctacaagaccc	5	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369096.4	+	5	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACAAAAGAAACATGACCGGC	0.547			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1663-1665)aAc>aGc		PR domain containing 1, with ZNF domain							57	58	57					6																	106553699		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553699A>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1664A>G	6.37:g.106553699A>G	ENSP00000358092:p.Asn555Ser					PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	p.N555S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1898	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	555					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1664A>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674326	0.47781	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06687	3.29;3.27;3.29	5.74	5.74	0.90152	.	0.125824	0.85682	D	0.000000	T	0.04363	0.0120	L	0.48362	1.52	0.51012	D	0.999903	B;B	0.28128	0.112;0.201	B;B	0.27715	0.053;0.082	T	0.35724	-0.9777	10	0.22706	T	0.39	-47.0413	16.0421	0.80691	1.0:0.0:0.0:0.0	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	S	519;555;518;421	ENSP00000358087:N519S;ENSP00000358092:N555S;ENSP00000358085:N421S	ENSP00000358085:N421S	N	+	2	0	PRDM1	106660392	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	4.211000	0.58507	2.192000	0.70111	0.533000	0.62120	AAC		0.547	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			60	299	0	0	0	1	0	60	299					G	106553699	A	G	106553699	3	3	79	1	0	0	0	0	1	0	0	0	12497	43	2	4	1695	4	PRDM1	6	106553699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	827662	106553699	64561368	7710	18027											
PRDM1	639	broad.mit.edu	37	chr6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaatgcaaggtgtgccCtgccaagttcacccagtttg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369096.4	+	7	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	665					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGGTGTGCCCTGCCAAGTTC	0.542			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1993-1995)cCt>cTt		PR domain containing 1, with ZNF domain							115	116	116					6																	106554877		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106554877C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1994C>T	6.37:g.106554877C>T	ENSP00000358092:p.Pro665Leu					PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	p.P665L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2228	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	665					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1994C>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535259	0.64972	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.21;3.21;3.21	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.35414	1.06	0.80722	D	1	B;B	0.28128	0.1;0.201	B;B	0.36092	0.155;0.217	T	0.24977	-1.0145	10	0.72032	D	0.01	-14.8534	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;665	Q86WM7;O75626	.;PRDM1_HUMAN	L	629;665;628;531	ENSP00000358087:P629L;ENSP00000358092:P665L;ENSP00000358085:P531L	ENSP00000358085:P531L	P	+	2	0	PRDM1	106661570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.882000	0.98803	0.655000	0.94253	CCT		0.542	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			152	646	0	0	0	1	0	152	646					T	106554877	C	T	106554877	3	4	79	1	0	0	0	0	1	0	0	0	12497	681	24	2	2033	2	PRDM1	6	106554877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178	106554877	64560190	7711	18028											
AIM1	202	broad.mit.edu	37	chr6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccgatacagcacaagacaTccccaccactgtggatacca	6	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACAAGACATCCCCACCACT	0.483																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(1288-1290)aTc>aCc		absent in melanoma 1							103	97	99					6																	106967596		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967596T>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1289T>C	6.37:g.106967596T>C	ENSP00000358062:p.Ile430Thr						p.I430T	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1776	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	430					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1289T>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752937	0.31046	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.84	-7.45	0.01374	.	1.852220	0.02798	N	0.122911	T	0.25457	0.0619	N	0.25647	0.755	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	10	0.09590	T	0.72	.	6.5901	0.22642	0.1018:0.1453:0.5885:0.1644	.	430	Q9Y4K1	AIM1_HUMAN	T	838;430	ENSP00000358062:I430T	ENSP00000285105:I838T	I	+	2	0	AIM1	107074289	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.901000	0.04093	-0.506000	0.06558	0.533000	0.62120	ATC		0.483	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			83	349	0	0	0	1	0	83	349					C	106967596	T	C	106967596	3	2	79	1	0	0	0	0	1	0	0	0	430	1435	50	4	1295	4	AIM1	6	106967596	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412719	106967596	64147471	7712	18029											
AIM1	202	broad.mit.edu	37	chr6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatgaccacggctttcaGtacttctcagaacggttccc	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGGCTTTCAGTACTTCTCAG	0.448																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2587-2589)aGt>aAt		absent in melanoma 1							71	74	73					6																	106968895		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968895G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2588G>A	6.37:g.106968895G>A	ENSP00000358062:p.Ser863Asn						p.S863N	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3075	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	863					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2588G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596516	0.46318	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72615	-0.67	5.99	5.12	0.69794	.	1.354340	0.04133	N	0.318282	T	0.51958	0.1705	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.29785	0.107	T	0.54289	-0.8316	10	0.44086	T	0.13	.	10.16	0.42847	0.1977:0.0:0.8023:0.0	.	863	Q9Y4K1	AIM1_HUMAN	N	1271;863	ENSP00000358062:S863N	ENSP00000285105:S1271N	S	+	2	0	AIM1	107075588	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	1.573000	0.36472	1.544000	0.49359	0.655000	0.94253	AGT		0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			83	317	0	0	0	1	0	83	317					A	106968895	G	A	106968895	3	1	79	1	0	0	0	0	1	0	0	0	430	1029	36	2	2594	2	AIM1	6	106968895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	106968895	64146172	7713	18030											
BEND3	57673	broad.mit.edu	37	chr6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactggaggagtcgtagcaGtcatcacgcggggggtcgcc	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000369042.1	-	4	1681	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000429433.2_Missense_Mutation_p.D497E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1489-1491)gaC>gaA		BEN domain containing 3							31	29	29					6																	107390904		2202	4298	6500	SO:0001583	missense	57673							g.chr6:107390904G>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1491C>A	6.37:g.107390904G>T	ENSP00000358038:p.Asp497Glu					BEND3_ENST00000369042.1_Missense_Mutation_p.D497E	p.D497E	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2140	-			497					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1491C>A	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741071	0.30865	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	.	0.052952	0.85682	D	0.000000	T	0.16981	0.0408	N	0.11560	0.145	0.38325	D	0.943639	B	0.23316	0.083	B	0.22386	0.039	T	0.07158	-1.0787	9	0.31617	T	0.26	-25.2658	9.3142	0.37924	0.1577:0.0:0.8423:0.0	.	497	Q5T5X7	BEND3_HUMAN	E	497	.	ENSP00000358038:D497E	D	-	3	2	BEND3	107497597	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.922000	0.28734	2.625000	0.88918	0.561000	0.74099	GAC		0.672	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		47	234	1	0	2.24722e-20	1	2.51766e-20	47	234					T	107390904	G	T	107390904	3	4	79	1	0	0	0	0	1	0	0	0	1400	1020	36	3	999	3	BEND3	6	107390904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422009	107390904	63724163	7714	18031											
SOBP	55084	broad.mit.edu	37	chr6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgggaagtgaggtgaaaaGcttctgcagcgagaagtgct	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGAAAAGCTTCTGCAGC	0.507																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(514-516)aGc>aTc		sine oculis binding protein homolog (Drosophila)							120	125	123					6																	107854756		1952	4149	6101	SO:0001583	missense	55084						metal ion binding	g.chr6:107854756G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.515G>T	6.37:g.107854756G>T	ENSP00000318900:p.Ser172Ile						p.S172I	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1174	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	172						Missense_Mutation	SNP	ENST00000317357.5	37	c.515G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725865	0.69074	.	.	ENSG00000112320	ENST00000317357	T	0.24538	1.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20685	0.6	0.80722	D	1	P	0.49783	0.928	P	0.51135	0.66	T	0.02365	-1.1170	10	0.23891	T	0.37	-14.0437	19.5093	0.95135	0.0:0.0:1.0:0.0	.	172	A7XYQ1	SOBP_HUMAN	I	172	ENSP00000318900:S172I	ENSP00000318900:S172I	S	+	2	0	SOBP	107961449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.615000	0.88500	0.467000	0.42956	AGC		0.507	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		160	625	1	0	2.01345e-68	1	2.55314e-68	160	625					T	107854756	G	T	107854756	3	4	79	1	0	0	0	0	1	0	0	0	14962	971	34	3	529	3	SOBP	6	107854756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463852	107854756	63260311	7715	18032											
SOBP	55084	broad.mit.edu	37	chr6	107955419	107955419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaccggcccatgctatcGccccacatccaccccccgag	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGCTATCGCCCCACATCC	0.751																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1369-1371)tcG>tcA		sine oculis binding protein homolog (Drosophila)							9	11	10					6																	107955419		1786	3974	5760	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955419G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1371G>A	6.37:g.107955419G>A							p.S457S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2030	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	457			Pro-rich.			Silent	SNP	ENST00000317357.5	37	c.1371G>A	CCDS43488.1																																																																																				0.751	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		34	134	0	0	0	1	0	34	134					A	107955419	G	A	107955419	2	1	79	1	0	0	0	0	0	0	0	1	14962	1074	38	1		1	SOBP	6	107955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100663	107955419	63159648	7716	18033											
SOBP	55084	broad.mit.edu	37	chr6	107955830	107955830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagggctcgtccaagtcCgcggactcgccccccggctg	13	17	0	0	rs375402260		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGTCCAAGTCCGCGGACTCGC	0.756																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1780-1782)tcC>tcT		sine oculis binding protein homolog (Drosophila)		A		0,3492		0,0,1746	6	7	6		1782	-0.5	1	6		6	1,7817		0,1,3908	no	coding-synonymous	SOBP	NM_018013.3		0,1,5654	TT,TC,CC		0.0128,0.0,0.0088		594/874	107955830	1,11309	1746	3909	5655	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955830C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1782C>T	6.37:g.107955830C>T							p.S594S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2441	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	594						Silent	SNP	ENST00000317357.5	37	c.1782C>T	CCDS43488.1																																																																																				0.756	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		23	69	0	0	0	1	0	23	69					T	107955830	C	T	107955830	2	4	79	1	0	0	0	0	0	0	0	1	14962	639	23	1		1	SOBP	6	107955830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411	107955830	63159237	7717	18034											
SOBP	55084	broad.mit.edu	37	chr6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagctagagtcggtcaaggaGaataactgtgcttccaactg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGGTCAAGGAGAATAACTGTG	0.687																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2317-2319)gaG>gaT		sine oculis binding protein homolog (Drosophila)							33	40	38					6																	107956367		1944	4143	6087	SO:0001583	missense	55084						metal ion binding	g.chr6:107956367G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2319G>T	6.37:g.107956367G>T	ENSP00000318900:p.Glu773Asp					SOBP_ENST00000494935.1_3'UTR	p.E773D	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2978	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	773						Missense_Mutation	SNP	ENST00000317357.5	37	c.2319G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136500	0.77662	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.52983	0.64	4.15	4.15	0.48705	.	0.994812	0.08127	N	0.993747	T	0.46560	0.1399	L	0.29908	0.895	0.47698	D	0.99949	D	0.67145	0.996	D	0.76071	0.987	T	0.41395	-0.9511	10	0.87932	D	0	-7.7535	10.1851	0.42993	0.093:0.0:0.907:0.0	.	773	A7XYQ1	SOBP_HUMAN	D	773;168	ENSP00000318900:E773D	ENSP00000230065:E168D	E	+	3	2	SOBP	108063060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	1.836000	0.53414	0.462000	0.41574	GAG		0.687	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		14	327	1	0	2.32078e-09	1	2.442e-09	14	327					T	107956367	G	T	107956367	3	4	79	1	0	0	0	0	1	0	0	0	14962	933	33	3	2341	3	SOBP	6	107956367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	107956367	63158700	7718	18035											
SOBP	55084	broad.mit.edu	37	chr6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgctctgcggatgctgCccaagaccggctgcgtgatc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGGATGCTGCCCAAGACCGG	0.647																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2464-2466)Ccc>Tcc		sine oculis binding protein homolog (Drosophila)							61	75	71					6																	107956512		2128	4242	6370	SO:0001583	missense	55084						metal ion binding	g.chr6:107956512C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2464C>T	6.37:g.107956512C>T	ENSP00000318900:p.Pro822Ser					SOBP_ENST00000494935.1_3'UTR	p.P822S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	3123	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	822						Missense_Mutation	SNP	ENST00000317357.5	37	c.2464C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395447	0.62066	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.47869	0.83	4.54	4.54	0.55810	.	2.024820	0.03193	U	0.173606	T	0.22085	0.0532	N	0.11560	0.145	0.43787	D	0.996326	P	0.47034	0.889	P	0.47402	0.546	T	0.48364	-0.9042	10	0.02654	T	1	-2.1772	17.2698	0.87098	0.0:1.0:0.0:0.0	.	822	A7XYQ1	SOBP_HUMAN	S	822;217	ENSP00000318900:P822S	ENSP00000230065:P217S	P	+	1	0	SOBP	108063205	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.585000	0.53943	2.052000	0.61016	0.462000	0.41574	CCC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		17	695	0	0	0	1	0	17	695					T	107956512	C	T	107956512	3	4	79	1	0	0	0	0	1	0	0	0	14962	739	26	2	2486	2	SOBP	6	107956512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	107956512	63158555	7719	18036											
SEC63	11231	broad.mit.edu	37	chr6	108227665	108227665	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaataccttcttcaagggtCtcaggaattttcattctagc	6	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	316	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(946-948)gaG>gaA		SEC63 homolog (S. cerevisiae)							109	115	113					6																	108227665		2203	4300	6503	SO:0001819	synonymous_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108227665C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.948G>A	6.37:g.108227665C>T							p.E316E	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	10	1127	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	316			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	ENST00000369002.4	37	c.948G>A	CCDS5061.1																																																																																				0.388	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		95	477	0	0	0	1	0	95	477					T	108227665	C	T	108227665	2	4	79	1	0	0	0	0	0	0	0	1	14055	912	32	2		2	SEC63	6	108227665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271153	108227665	62887402	7720	18037											
NR2E1	7101	broad.mit.edu	37	chr6	108496126	108496126	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcaacatgaacaaagaCggtaatcagtgcatcccttt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	86					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.e3+1		nuclear receptor subfamily 2, group E, member 1							131	113	119					6																	108496126		2203	4300	6503	SO:0001630	splice_region_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108496126C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.259+1C>T	6.37:g.108496126C>T						NR2E1_ENST00000368983.3_Splice_Site_p.D123_splice	p.D86_splice	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	3	966	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	86					Q6ZMP8	Splice_Site	SNP	ENST00000368986.4	37	c.259_splice	CCDS5063.1																																																																																				0.458	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		Silent	43	209	0	0	0	1	0	43	209					T	108496126	C	T	108496126	5	4	79	1	0	0	0	0	0	0	1	0	10667	550	19	1	268	1	NR2E1	6	108496126	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268461	108496126	62618941	7721	18038											
NR2E1	7101	broad.mit.edu	37	chr6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgaatgggaccccaatGtatctctatgaagtggccac	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(523-525)atG>atA		nuclear receptor subfamily 2, group E, member 1							109	101	104					6																	108499328		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108499328G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.525G>A	6.37:g.108499328G>A	ENSP00000357982:p.Met175Ile					NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	p.M175I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	5	1233	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	175					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.525G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	NR2E1	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG		0.498	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			59	297	0	0	0	1	0	59	297					A	108499328	G	A	108499328	3	1	79	1	0	0	0	0	1	0	0	0	10667	1377	48	2	543	2	NR2E1	6	108499328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202	108499328	62615739	7722	18039											
SNX3	8724	broad.mit.edu	37	chr6	108535813	108535813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgctttcccagggagcGggggaactacgacctaaaat	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108535813G>A	ENST00000230085.8	-	3	610	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SNX3_ENST00000426155.2_Missense_Mutation_p.P59L|SNX3_ENST00000349379.5_Missense_Mutation_p.P69L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	91	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CCCAGGGAGCGGGGGAACTAC	0.423																																						ENST00000230085.8																			0				large_intestine(1)	1						c.(271-273)cCg>cTg		sorting nexin 3							52	50	51					6																	108535813		2203	4300	6503	SO:0001583	missense	8724				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding	g.chr6:108535813G>A	AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"Sorting nexins"	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.272C>T	6.37:g.108535813G>A	ENSP00000230085:p.Pro91Leu					SNX3_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	p.P91L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)	3	610	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	91			PX.		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	c.272C>T	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320049	0.60634	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.44083	0.93;0.93;0.93	5.16	5.16	0.70880	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.88450	2.955	0.80722	D	1	B;B	0.25486	0.101;0.127	B;B	0.32090	0.03;0.14	T	0.54846	-0.8232	10	0.87932	D	0	-15.6734	15.3802	0.74648	0.0:0.0:0.8601:0.1399	.	59;91	O60493-2;O60493	.;SNX3_HUMAN	L	91;59;69	ENSP00000230085:P91L;ENSP00000401779:P59L;ENSP00000296991:P69L	ENSP00000230085:P91L	P	-	2	0	SNX3	108642506	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.883000	0.87264	2.562000	0.86427	0.462000	0.41574	CCG		0.423	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			6	182	0	0	0	1	0	6	182					A	108535813	G	A	108535813	3	1	79	1	0	0	0	0	1	0	0	0	14949	1116	39	1	224	1	SNX3	6	108535813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36485	108535813	62579254	7723	18040											
LACE1	246269	broad.mit.edu	37	chr6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacggttcagacatccgagaGcatgaccccaactgccactt	8	14	1	3	rs548447273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	55						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACATCCGAGAGCATGACCCCA	0.393																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(163-165)aGc>aTc		lactation elevated 1							97	91	93					6																	108645053		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108645053G>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.164G>T	6.37:g.108645053G>T	ENSP00000357973:p.Ser55Ile						p.S55I	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	2	350	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	55					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.164G>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024493	0.19433	.	.	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.44	-2.02	0.07388	.	1.142340	0.06187	N	0.680538	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.35671	T	0.21	0.0101	2.4287	0.04466	0.4639:0.2219:0.2013:0.1129	.	55	Q8WV93	LACE1_HUMAN	I	55;22	.	ENSP00000357973:S55I	S	+	2	0	LACE1	108751746	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.056000	0.11787	-0.868000	0.04058	-0.275000	0.10095	AGC		0.393	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		78	337	1	0	4.34595e-34	1	5.16371e-34	78	337					T	108645053	G	T	108645053	3	4	79	1	0	0	0	0	1	0	0	0	8626	971	34	3	170	3	LACE1	6	108645053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109240	108645053	62470014	7724	18041											
LACE1	246269	broad.mit.edu	37	chr6	108687502	108687502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctgttcaaaaacggggtCgtcgttgtggcaacatccaa	10	9	2	0	rs370599565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	238						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAAACGGGGTCGTCGTTGTGG	0.373																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(712-714)gtC>gtT		lactation elevated 1		C		0,4406		0,0,2203	62	59	60		714	5.8	1	6		60	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	LACE1	NM_145315.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/482	108687502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108687502C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.714C>T	6.37:g.108687502C>T							p.V238V	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	6	900	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	238					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.714C>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090020	0.20390	0.0	2.33E-4	ENSG00000135537	ENST00000421954	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50931	-0.8769	4	.	.	.	-10.1505	7.6285	0.28226	0.0:0.8056:0.0:0.1944	.	.	.	.	L	106	.	.	S	+	2	0	LACE1	108794195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.755000	0.94549	0.655000	0.94253	TCG		0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		17	115	0	0	0	1	0	17	115					T	108687502	C	T	108687502	2	4	79	1	0	0	0	0	0	0	0	1	8626	871	31	1		1	LACE1	6	108687502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42449	108687502	62427565	7725	18042											
LACE1	246269	broad.mit.edu	37	chr6	108840900	108840900	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattttcttctatttcagGtgcgtataatttgctctgcg	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	402						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTATTTCAGGTGCGTATAAT	0.348																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.e12-1		lactation elevated 1							135	129	131					6																	108840900		2203	4300	6503	SO:0001630	splice_region_variant	246269						ATP binding	g.chr6:108840900G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1204-1G>A	6.37:g.108840900G>A							p.V402_splice	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1390	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	402					Q8N6A3	Splice_Site	SNP	ENST00000368977.4	37	c.1203_splice	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605248	0.66445	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91638	0.5324	8	.	.	.	-14.8229	19.6956	0.96023	0.0:0.0:1.0:0.0	.	402	Q8WV93	LACE1_HUMAN	M	402	.	.	V	+	1	0	LACE1	108947593	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	6.440000	0.73435	2.757000	0.94681	0.561000	0.74099	GTG		0.348	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	Missense_Mutation	58	301	0	0	0	1	0	58	301					A	108840900	G	A	108840900	5	1	79	1	0	0	0	0	0	0	1	0	8626	1275	44	2	1250	2	LACE1	6	108840900	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153398	108840900	62274167	7726	18043											
FOXO3	2309	broad.mit.edu	37	chr6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttttctccctgcagaactCcatccggcacaacctgtcac	5	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000343882.6	+	3	930	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	209					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(625-627)tCc>tTc		forkhead box O3							50	52	51					6																	108984662		2197	4288	6485	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984662C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.626C>T	6.37:g.108984662C>T	ENSP00000339527:p.Ser209Phe					FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000343882.6_Missense_Mutation_p.S209F	p.S209F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	969	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	209					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.626C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615266	0.66672	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	10	0.87932	D	0	-14.0329	20.1236	0.97970	0.0:1.0:0.0:0.0	.	209	O43524	FOXO3_HUMAN	F	209	ENSP00000339527:S209F;ENSP00000385824:S209F	ENSP00000339527:S209F	S	+	2	0	FOXO3	109091355	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.487000	0.81328	2.765000	0.95021	0.555000	0.69702	TCC		0.468	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			64	316	0	0	0	1	0	64	316					T	108984662	C	T	108984662	3	4	79	1	0	0	0	0	1	0	0	0	6051	855	30	2	632	2	FOXO3	6	108984662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143762	108984662	62130405	7727	18044											
FOXO3	2309	broad.mit.edu	37	chr6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggcagccccacgtcaCgcagcagtgatgagctggat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000343882.6	+	3	1196	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(892-894)Cgc>Tgc		forkhead box O3							23	25	24					6																	108984928		2201	4298	6499	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984928C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.892C>T	6.37:g.108984928C>T	ENSP00000339527:p.Arg298Cys					FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000343882.6_Missense_Mutation_p.R298C	p.R298C	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1235	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	298	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.892C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584054	0.46110	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91295	-2.82;-2.82	5.84	5.84	0.93424	.	0.045497	0.85682	D	0.000000	D	0.94384	0.8194	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.93633	0.6958	10	0.54805	T	0.06	-15.3772	20.1432	0.98067	0.0:1.0:0.0:0.0	.	298	O43524	FOXO3_HUMAN	C	298;298;78;78	ENSP00000339527:R298C;ENSP00000385824:R298C	ENSP00000339527:R298C	R	+	1	0	FOXO3	109091621	1.000000	0.71417	0.967000	0.41034	0.036000	0.12997	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	CGC		0.632	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			28	122	0	0	0	1	0	28	122					T	108984928	C	T	108984928	3	4	79	1	0	0	0	0	1	0	0	0	6051	536	19	1	898	1	FOXO3	6	108984928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266	108984928	62130139	7728	18045											
FOXO3	2309	broad.mit.edu	37	chr6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccaccaagggctcgggcCtgggctccccaaccagctcc	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000343882.6	+	3	1571	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	423					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1267-1269)Ctg>Atg		forkhead box O3							67	72	70					6																	108985303		2203	4300	6503	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985303C>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1267C>A	6.37:g.108985303C>A	ENSP00000339527:p.Leu423Met					FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000343882.6_Missense_Mutation_p.L423M	p.L423M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1610	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	423					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1267C>A	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068588	0.20067	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96967	-4.19;-4.19;-4.19	5.81	3.11	0.35812	.	0.613858	0.16574	N	0.208517	D	0.88665	0.6498	L	0.53249	1.67	0.43394	D	0.995517	P	0.45283	0.855	B	0.35859	0.212	D	0.84560	0.0649	10	0.45353	T	0.12	-2.6743	6.1388	0.20249	0.1303:0.6724:0.0:0.1973	.	423	O43524	FOXO3_HUMAN	M	423;423;203;203	ENSP00000339527:L423M;ENSP00000385824:L423M;ENSP00000446316:L203M	ENSP00000339527:L423M	L	+	1	2	FOXO3	109091996	1.000000	0.71417	0.839000	0.33178	0.823000	0.46562	3.218000	0.51192	0.388000	0.25054	0.462000	0.41574	CTG		0.602	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			83	476	1	0	1.5608e-48	1	1.92705e-48	83	476					A	108985303	C	A	108985303	3	1	79	1	0	0	0	0	1	0	0	0	6051	680	24	3	1273	3	FOXO3	6	108985303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	108985303	62129764	7729	18046											
ARMC2	84071	broad.mit.edu	37	chr6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggattgtaccgattttgcGtgaattagaaaagggtaaaa	11	3	0	2	rs373656754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	278										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCGATTTTGCGTGAATTAGAA	0.353																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(832-834)cGt>cAt		armadillo repeat containing 2		G	HIS/ARG	0,4406		0,0,2203	52	54	53		833	-2.4	0.9	6		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARMC2	NM_032131.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	278/868	109220981	2,13004	2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109220981G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.833G>A	6.37:g.109220981G>A	ENSP00000376417:p.Arg278His					ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	p.R278H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	7	1001	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	278					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.833G>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710046	0.00712	0.0	2.33E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39406	1.08;1.08	5.65	-2.41	0.06562	Armadillo-like helical (1);	0.500152	0.23742	N	0.045015	T	0.02571	0.0078	N	0.00483	-1.445	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.02654	T	1	.	12.4735	0.55799	0.5786:0.0:0.4214:0.0	.	278	Q8NEN0	ARMC2_HUMAN	H	113;278	ENSP00000357968:R113H;ENSP00000376417:R278H	ENSP00000357968:R113H	R	+	2	0	ARMC2	109327674	0.354000	0.24912	0.893000	0.35052	0.026000	0.11368	0.082000	0.14847	-0.289000	0.09038	-0.897000	0.02905	CGT		0.353	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		20	100	0	0	0	1	0	20	100					A	109220981	G	A	109220981	3	1	79	1	0	0	0	0	1	0	0	0	952	1145	40	1	855	1	ARMC2	6	109220981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235678	109220981	61894086	7730	18047											
ARMC2	84071	broad.mit.edu	37	chr6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaaacttgcaaaaataattCtagcagtaagtttttctttc	4	6	2	0	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	340										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAAATAATTCTAGCAGTAAG	0.313																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1018-1020)Cta>Ata		armadillo repeat containing 2							115	113	113					6																	109225603		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109225603C>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1018C>A	6.37:g.109225603C>A	ENSP00000376417:p.Leu340Ile					ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	p.L340I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	8	1186	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	340					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1018C>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691509	0.88735	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.59224	0.28;0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.83012	2.62	0.54753	D	0.999985	D	0.76494	0.999	D	0.80764	0.994	T	0.78224	-0.2287	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	340	Q8NEN0	ARMC2_HUMAN	I	175;340	ENSP00000357968:L175I;ENSP00000376417:L340I	ENSP00000357968:L175I	L	+	1	2	ARMC2	109332296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	CTA		0.313	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		26	260	1	0	7.16444e-05	1	7.29775e-05	26	260					A	109225603	C	A	109225603	3	1	79	1	0	0	0	0	1	0	0	0	952	912	32	3	1044	3	ARMC2	6	109225603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4622	109225603	61889464	7731	18048											
ARMC2	84071	broad.mit.edu	37	chr6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaaaaaataaccaggctCgtgaacaattttccaaagag	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACCAGGCTCGTGAACAATT	0.463																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1657-1659)Cgt>Tgt		armadillo repeat containing 2							49	44	46					6																	109274296		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109274296C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1657C>T	6.37:g.109274296C>T	ENSP00000376417:p.Arg553Cys					ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	p.R553C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	1825	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	553					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1657C>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801871	0.70682	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.50813	0.73;0.73	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67933	-0.5542	10	0.72032	D	0.01	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	553	Q8NEN0	ARMC2_HUMAN	C	388;553	ENSP00000357968:R388C;ENSP00000376417:R553C	ENSP00000357968:R388C	R	+	1	0	ARMC2	109380989	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	5.047000	0.64232	2.756000	0.94617	0.655000	0.94253	CGT		0.463	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		25	103	0	0	0	1	0	25	103					T	109274296	C	T	109274296	3	4	79	1	0	0	0	0	1	0	0	0	952	884	31	1	1703	1	ARMC2	6	109274296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48693	109274296	61840771	7732	18049											
ARMC2	84071	broad.mit.edu	37	chr6	109283323	109283323	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcgatttcattgtgcaGaacaatggtgagttaataac	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.Q550Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	715										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATTGTGCAGAACAATGGTG	0.398																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(2143-2145)caG>caA		armadillo repeat containing 2							73	63	66					6																	109283323		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109283323G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2145G>A	6.37:g.109283323G>A						ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.Q550Q	p.Q715Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	15	2313	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	715					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.2145G>A	CCDS5069.2																																																																																				0.398	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		16	65	0	0	0	1	0	16	65					A	109283323	G	A	109283323	2	1	79	1	0	0	0	0	0	0	0	1	952	933	33	2		2	ARMC2	6	109283323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9027	109283323	61831744	7733	18050											
MICAL1	64780	broad.mit.edu	37	chr6	109765460	109765460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctggaagcggatgagGgcatctctctggttgaccaa	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000358807.3	-	25	3449	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A	MICAL1_ENST00000358577.3_Silent_p.A960A|MICAL1_ENST00000368952.4_Silent_p.A1065A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1046					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3193-3195)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 1							39	40	40					6																	109765460		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765460G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3138C>T	6.37:g.109765460G>A						MICAL1_ENST00000358807.3_Silent_p.A1046A|MICAL1_ENST00000358577.3_Silent_p.A960A	p.A1065A			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	25	3485	-		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)	1046					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.3195C>T	CCDS5076.1																																																																																				0.587	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		41	220	0	0	0	1	0	41	220					A	109765460	G	A	109765460	2	1	79	1	0	0	0	0	0	0	0	1	9610	1219	43	2		2	MICAL1	6	109765460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482137	109765460	61349607	7734	18051											
MICAL1	64780	broad.mit.edu	37	chr6	109768325	109768325	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtgtggcctcacaGgtatggcagcggaagcagct	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000358807.3	-	17	2489	c.2178C>A	c.(2176-2178)acC>acA	p.T726T	MICAL1_ENST00000358577.3_Silent_p.T640T|MICAL1_ENST00000368952.4_Silent_p.T745T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	726	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2233-2235)acC>acA		microtubule associated monooxygenase, calponin and LIM domain containing 1							73	77	75					6																	109768325		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768325G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2178C>A	6.37:g.109768325G>T						MICAL1_ENST00000358807.3_Silent_p.T726T|MICAL1_ENST00000358577.3_Silent_p.T640T	p.T745T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	17	2525	-		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)	726			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2235C>A	CCDS5076.1																																																																																				0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		51	363	1	0	2.84144e-21	1	3.19776e-21	51	363					T	109768325	G	T	109768325	2	4	79	1	0	0	0	0	0	0	0	1	9610	987	35	3		3	MICAL1	6	109768325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2865	109768325	61346742	7735	18052											
MICAL1	64780	broad.mit.edu	37	chr6	109768373	109768373	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaatggccgttgacacaGaggcgttccaggacatagag	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000358807.3	-	17	2441	c.2130C>A	c.(2128-2130)ctC>ctA	p.L710L	MICAL1_ENST00000358577.3_Silent_p.L624L|MICAL1_ENST00000368952.4_Silent_p.L729L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	710	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2185-2187)ctC>ctA		microtubule associated monooxygenase, calponin and LIM domain containing 1							122	122	122					6																	109768373		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768373G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2130C>A	6.37:g.109768373G>T						MICAL1_ENST00000358807.3_Silent_p.L710L|MICAL1_ENST00000358577.3_Silent_p.L624L	p.L729L			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	17	2477	-		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)	710			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2187C>A	CCDS5076.1																																																																																				0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		81	500	1	0	2.18481e-45	1	2.67909e-45	81	500					T	109768373	G	T	109768373	2	4	79	1	0	0	0	0	0	0	0	1	9610	929	33	3		3	MICAL1	6	109768373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	109768373	61346694	7736	18053											
MICAL1	64780	broad.mit.edu	37	chr6	109768629	109768629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcacctcagtacttggGgtctcggcctccatctaagg	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000358807.3	-	16	2312	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	MICAL1_ENST00000358577.3_Silent_p.T581T|MICAL1_ENST00000368952.4_Silent_p.T686T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	667					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2056-2058)acC>acT		microtubule associated monooxygenase, calponin and LIM domain containing 1							69	67	68					6																	109768629		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768629G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2001C>T	6.37:g.109768629G>A						MICAL1_ENST00000358807.3_Silent_p.T667T|MICAL1_ENST00000358577.3_Silent_p.T581T	p.T686T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	16	2348	-		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)	667					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2058C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129682	0.06753	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.59	-2.28	0.06826	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	.	5.426	0.16425	0.5946:0.0:0.2594:0.1461	.	.	.	.	S	229	.	.	P	-	1	0	MICAL1	109875322	0.001000	0.12720	0.004000	0.12327	0.604000	0.37047	-0.429000	0.06982	-0.253000	0.09514	-0.169000	0.13324	CCC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		17	232	0	0	0	1	0	17	232					A	109768629	G	A	109768629	2	1	79	1	0	0	0	0	0	0	0	1	9610	1219	43	2		2	MICAL1	6	109768629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	109768629	61346438	7737	18054											
MICAL1	64780	broad.mit.edu	37	chr6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagcacgtcctggcacaGctgggcctgcaggaagctct	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000358807.3	-	2	375	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M|MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	22	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(121-123)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 1							27	26	26					6																	109775336		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775336G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.64C>A	6.37:g.109775336G>T	ENSP00000351664:p.Leu22Met					MICAL1_ENST00000358807.3_Missense_Mutation_p.L22M|MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M	p.L41M			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	2	411	-		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)	22					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.121C>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648733	0.67358	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;3.28;1.96;1.96	5.17	3.38	0.38709	.	1.141450	0.06566	N	0.747538	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	D;P;P	0.53619	0.961;0.672;0.543	P;B;B	0.46110	0.504;0.408;0.231	T	0.27606	-1.0069	10	0.72032	D	0.01	.	6.0299	0.19675	0.0871:0.0:0.5772:0.3358	.	41;22;22	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	22;41;22;22	ENSP00000351664:L22M;ENSP00000357948:L41M;ENSP00000351385:L22M;ENSP00000407075:L22M	ENSP00000351385:L22M	L	-	1	2	MICAL1	109882029	0.822000	0.29219	0.996000	0.52242	0.996000	0.88848	1.562000	0.36353	0.741000	0.32674	0.561000	0.74099	CTG		0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		35	126	1	0	9.78485e-24	1	1.11444e-23	35	126					T	109775336	G	T	109775336	3	4	79	1	0	0	0	0	1	0	0	0	9610	962	34	3	3235	3	MICAL1	6	109775336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6707	109775336	61339731	7738	18055											
AKD1	221264	broad.mit.edu	37	chr6	109815261	109815261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgggctttaagcatcccGctgcattcattgctttaatt	7	10	1	0	rs372465779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109815261G>A	ENST00000424296.2	-	40	5532	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1819					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)										TAAGCATCCCGCTGCATTCAT	0.368																																						ENST00000424296.2																			0											c.(5455-5457)gCg>gTg		adenylate kinase 9							65	68	67					6																	109815261		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109815261G>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.5456C>T	6.37:g.109815261G>A	ENSP00000410186:p.Ala1819Val					RP5-919F19.5_ENST00000423747.1_RNA	p.A1819V	NM_001145128.2	NP_001138600.2					40	5532	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5456C>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.796|9.796	1.179122|1.179122	0.21787|0.21787	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.58060|.	0.36|.	5.37|5.37	-1.73|-1.73	0.08081|0.08081	.|.	0.284581|.	0.38663|.	N|.	0.001618|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00408|0.00408	-1.53|-1.53	0.80722|0.80722	D|D	1|1	B;B|.	0.16166|.	0.001;0.016|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.33854|0.33854	-0.9852|-0.9852	9|5	.|.	.|.	.|.	.|.	6.3802|6.3802	0.21529|0.21529	0.6263:0.1522:0.2215:0.0|0.6263:0.1522:0.2215:0.0	.|.	204;1819|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	V|W	1819|657	ENSP00000410186:A1819V|.	.|.	A|R	-|-	2|1	0|2	AKD1|AKD1	109921954|109921954	0.877000|0.877000	0.30153|0.30153	0.969000|0.969000	0.41365|0.41365	0.872000|0.872000	0.50106|0.50106	1.605000|1.605000	0.36815|0.36815	0.005000|0.005000	0.14708|0.14708	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		39	250	0	0	0	1	0	39	250					A	109815261	G	A	109815261	3	1	79	1	0	0	0	0	1	0	0	0	460	1087	38	1	287	1	AKD1	6	109815261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39925	109815261	61299806	7739	18056											
AKD1	221264	broad.mit.edu	37	chr6	109850265	109850265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcagcccttcttttagcAatcgtatcaacctgttaaag	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109850265A>G	ENST00000424296.2	-	29	3658	c.3582T>C	c.(3580-3582)atT>atC	p.I1194I	AK9_ENST00000341338.6_Silent_p.I273I|AK9_ENST00000355283.1_Silent_p.I273I	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1194	Adenylate kinase 2.				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)										TTCTTTTAGCAATCGTATCAA	0.313																																						ENST00000424296.2																			0											c.(3580-3582)atT>atC		adenylate kinase 9							81	80	81					6																	109850265		2202	4300	6502	SO:0001819	synonymous_variant	221264							g.chr6:109850265A>G	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.3582T>C	6.37:g.109850265A>G						AK9_ENST00000341338.6_Silent_p.I273I|AK9_ENST00000355283.1_Silent_p.I273I	p.I1194I	NM_001145128.2	NP_001138600.2					29	3658	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.3582T>C	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	A	5.712	0.315939	0.10789	.	.	ENSG00000155085	ENST00000470564;ENST00000491875	.	.	.	3.99	1.55	0.23275	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14090	-1.0485	4	.	.	.	.	3.4152	0.07373	0.6346:0.0:0.1966:0.1688	.	.	.	.	S	32;129	.	.	L	-	2	0	AKD1	109956958	0.991000	0.36638	0.970000	0.41538	0.509000	0.34042	1.034000	0.30204	0.143000	0.18926	0.533000	0.62120	TTG		0.313	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	309	0	0	0	1	0	15	309					G	109850265	A	G	109850265	2	3	79	1	0	0	0	0	0	0	0	1	460	126	5	4		4	AKD1	6	109850265	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35004	109850265	61264802	7740	18057											
FIG4	9896	broad.mit.edu	37	chr6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgagcagctttgatgAtaccttttgcttggctatga	11	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	688					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2062-2064)gAt>gCt		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							178	171	174					6																	110107619		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110107619A>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2063A>C	6.37:g.110107619A>C	ENSP00000230124:p.Asp688Ala					FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	p.D688A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	18	2187	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	688					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2063A>C	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033096	0.54896	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.92;0.67	5.5	4.35	0.52113	.	0.271299	0.40640	N	0.001053	T	0.22322	0.0538	L	0.34521	1.04	0.53005	D	0.999962	B;B	0.33103	0.137;0.397	B;B	0.32465	0.092;0.146	T	0.11767	-1.0574	10	0.72032	D	0.01	-27.3375	11.3806	0.49754	0.9291:0.0:0.0709:0.0	.	411;688	F5H8L9;Q92562	.;FIG4_HUMAN	A	411;688	ENSP00000399443:D411A;ENSP00000230124:D688A	ENSP00000230124:D688A	D	+	2	0	FIG4	110214312	1.000000	0.71417	0.885000	0.34714	0.938000	0.57974	6.801000	0.75170	1.040000	0.40099	0.528000	0.53228	GAT		0.348	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		89	477	0	0	0	1	0	89	477					C	110107619	A	C	110107619	3	2	79	1	0	0	0	0	1	0	0	0	5913	333	12	4	2133	4	FIG4	6	110107619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257354	110107619	61007448	7741	18058											
GPR6	2830	broad.mit.edu	37	chr6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgcacctcctgcttgCcgccacttggaccgtgtccc	12	17	0	0	rs374392328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000275169.3	+	1	587	c.569C>A	c.(568-570)gCc>gAc	p.A190D	GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	190					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTCCTGCTTGCCGCCACTTGG	0.687																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(613-615)gCc>gAc		G protein-coupled receptor 6							25	27	26					6																	110300884		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300884C>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.569C>A	6.37:g.110300884C>A	ENSP00000275169:p.Ala190Asp					GPR6_ENST00000275169.3_Missense_Mutation_p.A190D	p.A205D			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	853	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	190					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.614C>A	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964004	0.53507	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.42513	0.97;0.97	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.273274	0.31772	N	0.007085	T	0.51449	0.1675	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.64830	0.993;0.994	P;D	0.63597	0.889;0.916	T	0.51568	-0.8689	10	0.72032	D	0.01	.	8.2855	0.31926	0.0:0.7829:0.0:0.2171	.	205;190	B4DHS9;P46095	.;GPR6_HUMAN	D	190;205;190	ENSP00000406986:A205D;ENSP00000275169:A190D	ENSP00000275169:A190D	A	+	2	0	GPR6	110407577	0.965000	0.33210	0.411000	0.26484	0.955000	0.61496	3.201000	0.51059	2.504000	0.84457	0.563000	0.77884	GCC		0.687	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			47	204	1	0	3.05275e-18	1	3.38534e-18	47	204					A	110300884	C	A	110300884	3	1	79	1	0	0	0	0	1	0	0	0	6730	739	26	3	571	3	GPR6	6	110300884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193265	110300884	60814183	7742	18059											
WASF1	8936	broad.mit.edu	37	chr6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcacatactggggcagCtctagctactggtggagagg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	403					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)			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)		ACTGGGGCAGCTCTAGCTACT	0.592																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1207-1209)Gct>Act		WAS protein family, member 1							95	93	93					6																	110423106		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423106C>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.1207G>A	6.37:g.110423106C>T	ENSP00000376368:p.Ala403Thr					WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T	p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2043	-		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)	403					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1207G>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830312	0.50845	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	.	0.643630	0.16262	N	0.222188	T	0.15869	0.0382	N	0.08118	0	0.41624	D	0.988985	B	0.06786	0.001	B	0.06405	0.002	T	0.13176	-1.0519	10	0.11485	T	0.65	.	19.5397	0.95270	0.0:1.0:0.0:0.0	.	403	Q92558	WASF1_HUMAN	T	403	ENSP00000376365:A403T;ENSP00000376366:A403T;ENSP00000376368:A403T;ENSP00000376367:A403T;ENSP00000352425:A403T	ENSP00000352425:A403T	A	-	1	0	WASF1	110529799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.623000	0.88846	0.655000	0.94253	GCT		0.592	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		58	238	0	0	0	1	0	58	238					T	110423106	C	T	110423106	3	4	79	1	0	0	0	0	1	0	0	0	17306	797	28	2	480	2	WASF1	6	110423106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122222	110423106	60691961	7743	18060											
DDO	8528	broad.mit.edu	37	chr6	110729641	110729641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgcgtgtgaatgggTgtatctgtaatcatggagaa	13	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	59					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(259-261)acA>acG		D-aspartate oxidase							104	97	99					6																	110729641		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110729641T>C	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.261A>G	6.37:g.110729641T>C						DDO_ENST00000368925.1_Silent_p.T59T|DDO_ENST00000368923.3_Silent_p.T87T	p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	3	276	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	59					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.261A>G	CCDS5082.1																																																																																				0.393	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			45	181	0	0	0	1	0	45	181					C	110729641	T	C	110729641	2	2	79	1	0	0	0	0	0	0	0	1	4345	1683	59	4		4	DDO	6	110729641	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306535	110729641	60385426	7744	18061											
DDO	8528	broad.mit.edu	37	chr6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggagagccccaccacacCtgccccgacaactgcaatcc	8	19	0	1	rs370410187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	12					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(118-120)Ggt>Tgt		D-aspartate oxidase							145	139	141					6																	110734632		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110734632C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.118G>T	6.37:g.110734632C>A	ENSP00000357920:p.Gly40Cys					DDO_ENST00000368925.1_Missense_Mutation_p.G12C|DDO_ENST00000368923.3_Missense_Mutation_p.G40C	p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	2	133	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	12					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.118G>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471670	0.84533	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.99860	-7.25;-7.25;-7.25	5.32	5.32	0.75619	.	0.110120	0.64402	D	0.000009	D	0.99926	0.9966	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96008	0.8999	10	0.87932	D	0	-18.4927	18.6022	0.91253	0.0:1.0:0.0:0.0	.	40;40	Q99489-4;Q99489-3	.;.	C	40;40;12	ENSP00000357920:G40C;ENSP00000357919:G40C;ENSP00000357921:G12C	ENSP00000357919:G40C	G	-	1	0	DDO	110841325	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	7.065000	0.76727	2.475000	0.83589	0.462000	0.41574	GGT		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			140	760	1	0	1.26214e-75	1	1.60976e-75	140	760					A	110734632	C	A	110734632	3	1	79	1	0	0	0	0	1	0	0	0	4345	681	24	3	1007	3	DDO	6	110734632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	110734632	60380435	7745	18062											
AMD1	262	broad.mit.edu	37	chr6	111213405	111213405	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtatgaattctgactgtTggtatgtttaatgcaatttt	9	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Splice_Site_p.W128R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000368882.3_Splice_Site_p.W9R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	157					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.e5+1		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						308	286	293					6																	111213405		2203	4300	6503	SO:0001630	splice_region_variant	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111213405T>C	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.470+1T>C	6.37:g.111213405T>C						AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Splice_Site_p.W9_splice|AMD1_ENST00000368877.5_Splice_Site_p.W128_splice|AMD1_ENST00000368876.1_Splice_Site_p.W88_splice	p.W157_splice	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	5	805	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	157					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	ENST00000368885.3	37	c.470_splice	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248273	0.80024	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	5.3	0.74995	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.86902	0.2055	9	0.66056	D	0.02	.	13.8004	0.63196	0.0:0.0:0.0:1.0	.	128;157	A6NNH3;P17707	.;DCAM_HUMAN	R	157;9;128;88	.	ENSP00000357870:W88R	W	+	1	0	AMD1	111320098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.652000	0.83633	2.003000	0.58678	0.402000	0.26972	TGG		0.313	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		Missense_Mutation	185	754	0	0	0	1	0	185	754					C	111213405	T	C	111213405	5	2	79	1	0	0	0	0	0	0	1	0	566	1826	63	4	487	4	AMD1	6	111213405	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478773	111213405	59901662	7746	18063											
RPF2	84154	broad.mit.edu	37	chr6	111310254	111310254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaaaaaaccatacggTgtactatataaaaagtaagt	7	6	0	1	rs369612477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.		G -> S (in dbSNP:rs6909298).			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AACCATACGGTGTACTATATA	0.249																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(178-180)ggT>ggC		ribosome production factor 2 homolog (S. cerevisiae)		T		0,4372		0,0,2186	41	44	43		180	-9.8	0	6		43	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RPF2	NM_032194.1		0,1,6479	CC,CT,TT		0.0116,0.0,0.0077		60/307	111310254	1,12959	2186	4294	6480	SO:0001819	synonymous_variant	84154					nucleolus	protein binding	g.chr6:111310254T>C	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.180T>C	6.37:g.111310254T>C							p.G60G	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			3	272	+			60		G -> S (in dbSNP:rs6909298).	Brix.		Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	c.180T>C	CCDS5088.1																																																																																				0.249	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		12	61	0	0	0	1	0	12	61					C	111310254	T	C	111310254	2	2	79	1	0	0	0	0	0	0	0	1	13597	1683	59	4		4	RPF2	6	111310254	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96849	111310254	59804813	7747	18064											
SLC16A10	117247	broad.mit.edu	37	chr6	111493992	111493992	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggttgtcggaaaacagctgtCgtgggtgctgctgttggatt	16	6	0	0	rs562101130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	146					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AAACAGCTGTCGTGGGTGCTG	0.428																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(436-438)gtC>gtA		solute carrier family 16 (aromatic amino acid transporter), member 10							264	249	254					6																	111493992		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111493992C>A	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.438C>A	6.37:g.111493992C>A						SLC16A10_ENST00000465319.1_3'UTR	p.V146V	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	613	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	146					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.438C>A	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855211	0.17106	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-6.94	0.01633	.	.	.	.	.	.	.	.	.	.	.	0.41365	D	0.987454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3115	0.49366	0.0:0.1161:0.1904:0.6935	.	.	.	.	X	32	.	.	S	+	2	0	SLC16A10	111600685	0.622000	0.27085	0.022000	0.16811	0.974000	0.67602	-0.354000	0.07681	-1.353000	0.02191	0.491000	0.48974	TCG		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			141	617	1	0	5.71173e-70	1	7.25183e-70	141	617					A	111493992	C	A	111493992	2	1	79	1	0	0	0	0	0	0	0	1	14453	871	31	3		3	SLC16A10	6	111493992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183738	111493992	59621075	7748	18065											
KIAA1919	91749	broad.mit.edu	37	chr6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcaagatttggcaacaAacgtgaaccgaaatatcagt	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	26					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(76-78)Aac>Cac		KIAA1919							291	272	278					6																	111583508		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583508A>C	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.76A>C	6.37:g.111583508A>C	ENSP00000357840:p.Asn26His						p.N26H	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	429	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	26					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.76A>C	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728643	0.89390	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.68952	2.095	0.53005	D	0.999962	P	0.46784	0.884	P	0.59424	0.857	T	0.62096	-0.6926	10	0.46703	T	0.11	-24.5747	15.8764	0.79166	1.0:0.0:0.0:0.0	.	26	Q5TF39	NAGT1_HUMAN	H	26	ENSP00000357840:N26H	ENSP00000357840:N26H	N	+	1	0	KIAA1919	111690201	1.000000	0.71417	0.800000	0.32199	0.934000	0.57294	8.088000	0.89523	2.234000	0.73211	0.459000	0.35465	AAC		0.363	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		165	697	0	0	0	1	0	165	697					C	111583508	A	C	111583508	3	2	79	1	0	0	0	0	1	0	0	0	8292	14	1	4	82	4	KIAA1919	6	111583508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89516	111583508	59531559	7749	18066											
REV3L	5980	broad.mit.edu	37	chr6	111621261	111621261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagatatggtgccttggaCaattctctatttactcggga	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000358835.3	-	33	9805	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Silent_p.L3039L|RP5-1112D6.7_ENST00000607386.1_lincRNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3117					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCCTTGGACAATTCTCTAT	0.393								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(9115-9117)ttG>ttA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							153	154	154					6																	111621261		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111621261C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9351G>A	6.37:g.111621261C>T						REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000358835.3_Silent_p.L3117L|REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR	p.L3039L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	34	9933	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	3117					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.9117G>A	CCDS5091.2																																																																																				0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		99	441	0	0	0	1	0	99	441					T	111621261	C	T	111621261	2	4	79	1	0	0	0	0	0	0	0	1	13290	477	17	2		2	REV3L	6	111621261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37753	111621261	59493806	7750	18067											
REV3L	5980	broad.mit.edu	37	chr6	111678315	111678315	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctaataagtaatggagtCtgatatctgatatctaaaaa	7	4	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000358835.3	-	19	7540	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000435970.1_Silent_p.Q2284Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2362					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTAATGGAGTCTGATATCTGA	0.269								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6850-6852)caG>caA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							64	69	67					6																	111678315		2203	4298	6501	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111678315C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7086G>A	6.37:g.111678315C>T						REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000358835.3_Silent_p.Q2362Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q	p.Q2284Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	20	7668	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2362					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.6852G>A	CCDS5091.2																																																																																				0.269	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		63	307	0	0	0	1	0	63	307					T	111678315	C	T	111678315	2	4	79	1	0	0	0	0	0	0	0	1	13290	912	32	2		2	REV3L	6	111678315	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57054	111678315	59436752	7751	18068											
REV3L	5980	broad.mit.edu	37	chr6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtggtttcagaatgttaGcagttcgaggggtgaagctg	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000358835.3	-	14	6078	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1875	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAATGTTAGCAGTTCGAGG	0.418								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5389-5391)gCt>gAt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							183	189	187					6																	111693934		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693934G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5624C>A	6.37:g.111693934G>T	ENSP00000351697:p.Ala1875Asp					REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000358835.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D	p.A1797D			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6206	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1875					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5390C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498395	0.64298	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.82;4.82;4.82;4.73	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.125034	0.56097	D	0.000040	T	0.02012	0.0063	L	0.44542	1.39	0.42120	D	0.991422	D	0.63880	0.993	P	0.56343	0.796	T	0.70292	-0.4912	10	0.15499	T	0.54	-5.523	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	1875	O60673	DPOLZ_HUMAN	D	1875;1875;1875;1797	ENSP00000357792:A1875D;ENSP00000357795:A1875D;ENSP00000351697:A1875D;ENSP00000402003:A1797D	ENSP00000351697:A1875D	A	-	2	0	REV3L	111800627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.631000	0.83237	2.805000	0.96524	0.655000	0.94253	GCT		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		157	709	1	0	5.74082e-73	1	7.30534e-73	157	709					T	111693934	G	T	111693934	3	4	79	1	0	0	0	0	1	0	0	0	13290	971	34	3	3848	3	REV3L	6	111693934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15619	111693934	59421133	7752	18069											
REV3L	5980	broad.mit.edu	37	chr6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgcttctgataacgaccTcggttttactctttcaggtt	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000358835.3	-	14	4934	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1494					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GATAACGACCTCGGTTTTACT	0.378								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4246-4248)Agg>Tgg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							131	126	128					6																	111695078		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695078T>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4480A>T	6.37:g.111695078T>A	ENSP00000351697:p.Arg1494Trp					REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000358835.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W	p.R1416W			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5062	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1494					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4246A>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096552	0.36952	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01887	4.67;4.67;4.67;4.58	6.04	3.7	0.42460	Ribonuclease H-like (1);	0.279477	0.30201	N	0.010167	T	0.01523	0.0049	L	0.40543	1.245	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.41324	-0.9515	10	0.87932	D	0	-5.225	14.0764	0.64893	0.0:0.0:0.2772:0.7228	.	1494	O60673	DPOLZ_HUMAN	W	1494;1494;1494;1416	ENSP00000357792:R1494W;ENSP00000357795:R1494W;ENSP00000351697:R1494W;ENSP00000402003:R1416W	ENSP00000351697:R1494W	R	-	1	2	REV3L	111801771	0.014000	0.17966	0.730000	0.30809	0.690000	0.40134	1.863000	0.39459	1.065000	0.40693	0.460000	0.39030	AGG		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		132	597	0	0	0	1	0	132	597					A	111695078	T	A	111695078	3	1	79	1	0	0	0	0	1	0	0	0	13290	1550	54	5	4992	5	REV3L	6	111695078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1144	111695078	59419989	7753	18070											
REV3L	5980	broad.mit.edu	37	chr6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcttctgaaatttttTttcactttctgttgctggca	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000358835.3	-	9	1349	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	299					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAAATTTTTTTTCACTTTCT	0.289								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(661-663)Aaa>Caa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							51	55	54					6																	111709256		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111709256T>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.895A>C	6.37:g.111709256T>G	ENSP00000351697:p.Lys299Gln					REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000358835.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q	p.K221Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1477	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	299					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.661A>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660422	0.67586	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.156429	0.45867	D	0.000334	T	0.15955	0.0384	L	0.45581	1.43	0.35880	D	0.828879	P	0.47409	0.895	B	0.39706	0.307	T	0.04041	-1.0982	10	0.29301	T	0.29	.	15.3194	0.74109	0.0:0.0:0.0:1.0	.	299	O60673	DPOLZ_HUMAN	Q	299;299;299;221	ENSP00000357792:K299Q;ENSP00000357795:K299Q;ENSP00000351697:K299Q;ENSP00000402003:K221Q	ENSP00000351697:K299Q	K	-	1	0	REV3L	111815949	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	6.903000	0.75703	2.017000	0.59298	0.482000	0.46254	AAA		0.289	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		46	198	0	0	0	1	0	46	198					G	111709256	T	G	111709256	3	3	79	1	0	0	0	0	1	0	0	0	13290	1850	64	4	8597	4	REV3L	6	111709256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14178	111709256	59405811	7754	18071											
WISP3	8838	broad.mit.edu	37	chr6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgccctcagcagaaGccccgttgccctcctggagt	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000368666.2	+	2	460	c.174G>T	c.(172-174)aaG>aaT	p.K58N	WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	58	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(226-228)aaG>aaT		WNT1 inducible signaling pathway protein 3							137	126	130					6																	112382319		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112382319G>T	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.174G>T	6.37:g.112382319G>T	ENSP00000357655:p.Lys58Asn					WISP3_ENST00000368666.2_Missense_Mutation_p.K58N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	p.K76N			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	2	273	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	58			IGFBP N-terminal.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.228G>T	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141233	0.09083	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.58	3.71	0.42584	Insulin-like growth factor-binding protein, IGFBP (3);	0.860116	0.09750	N	0.760779	T	0.30293	0.0760	L	0.44542	1.39	0.18873	N	0.999986	P;B	0.37276	0.589;0.351	B;B	0.30943	0.117;0.122	T	0.24977	-1.0145	10	0.62326	D	0.03	.	5.8736	0.18816	0.2242:0.148:0.6278:0.0	.	76;58	O95389-2;O95389	.;WISP3_HUMAN	N	58;58;76;58;36	ENSP00000357655:K58N;ENSP00000230529:K58N;ENSP00000354734:K76N;ENSP00000357652:K36N	ENSP00000230529:K58N	K	+	3	2	WISP3	112489012	0.989000	0.36119	0.690000	0.30148	0.032000	0.12392	1.954000	0.40362	1.046000	0.40249	-0.253000	0.11424	AAG		0.527	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		77	342	1	0	1.88935e-48	1	2.3319e-48	77	342					T	112382319	G	T	112382319	3	4	79	1	0	0	0	0	1	0	0	0	17428	962	34	3	234	3	WISP3	6	112382319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673063	112382319	58732748	7755	18072											
TUBE1	51175	broad.mit.edu	37	chr6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctggatagaattacctcGttaggttgaggagcaaattt	10	7	0	2	rs376900146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	270					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GAATTACCTCGTTAGGTTGAG	0.333																																						ENST00000368662.5																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(808-810)aCg>aTg		tubulin, epsilon 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	100	105	104		809	5.7	1	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBE1	NM_016262.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	270/476	112397143	2,13004	2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112397143G>A	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.809C>T	6.37:g.112397143G>A	ENSP00000357651:p.Thr270Met					TUBE1_ENST00000604814.1_5'UTR	p.T270M	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	8	887	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	270					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.809C>T	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733802	0.89482	2.27E-4	1.16E-4	ENSG00000074935	ENST00000368662	T	0.73047	-0.71	5.7	5.7	0.88788	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	270	Q9UJT0	TBE_HUMAN	M	270	ENSP00000357651:T270M	ENSP00000357651:T270M	T	-	2	0	TUBE1	112503836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.328000	0.96403	2.677000	0.91161	0.650000	0.86243	ACG		0.333	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		84	348	0	0	0	1	0	84	348					A	112397143	G	A	112397143	3	1	79	1	0	0	0	0	1	0	0	0	16817	1145	40	1	638	1	TUBE1	6	112397143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14824	112397143	58717924	7756	18073											
LAMA4	3910	broad.mit.edu	37	chr6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccttgattttccaggtaGcttcagtaggaggaagactt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1584	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCAGGTAGCTTCAGTAGG	0.473																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4750-4752)gCt>gTt		laminin, alpha 4							124	118	120					6																	112440429		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440429G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4751C>T	6.37:g.112440429G>A	ENSP00000230538:p.Ala1584Val					LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V	p.A1584V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	5148	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1584			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4751C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992833	0.18966	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.69	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.564410	0.19944	N	0.102587	T	0.29093	0.0723	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.9725	0.14123	0.2293:0.0:0.5884:0.1824	.	1584;1577	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1584;1577;1577;1577	ENSP00000230538:A1584V;ENSP00000429488:A1577V;ENSP00000374114:A1577V;ENSP00000416470:A1577V	ENSP00000230538:A1584V	A	-	2	0	LAMA4	112547122	0.023000	0.18921	0.278000	0.24718	0.904000	0.53231	1.616000	0.36933	0.775000	0.33450	-0.263000	0.10527	GCT		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		99	408	0	0	0	1	0	99	408					A	112440429	G	A	112440429	3	1	79	1	0	0	0	0	1	0	0	0	8639	971	34	2	744	2	LAMA4	6	112440429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43286	112440429	58674638	7757	18074											
LAMA4	3910	broad.mit.edu	37	chr6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcatccataaccaActcccagggtttctgtctgc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATAACCAACTCCCAGGGT	0.423																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3667-3669)gTt>gCt		laminin, alpha 4							128	129	129					6																	112454579		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112454579A>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3668T>C	6.37:g.112454579A>G	ENSP00000230538:p.Val1223Ala					LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A	p.V1223A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	27	4065	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1223			Laminin G-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3668T>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796977	0.70567	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156231	0.56097	D	0.000034	T	0.74268	0.3694	L	0.38175	1.15	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.43251	0.235;0.413	T	0.80082	-0.1531	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1223;1216	Q16363;Q16363-2	LAMA4_HUMAN;.	A	1223;1216;1216;1216	ENSP00000230538:V1223A;ENSP00000429488:V1216A;ENSP00000374114:V1216A;ENSP00000416470:V1216A	ENSP00000230538:V1223A	V	-	2	0	LAMA4	112561272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.246000	0.74042	0.533000	0.62120	GTT		0.423	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		93	551	0	0	0	1	0	93	551					G	112454579	A	G	112454579	3	3	79	1	0	0	0	0	1	0	0	0	8639	43	2	4	1855	4	LAMA4	6	112454579	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14150	112454579	58660488	7758	18075											
LAMA4	3910	broad.mit.edu	37	chr6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactcacatcataaattcGgtcagtggtgttcaaagcaa	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	650	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1948-1950)Cga>Tga		laminin, alpha 4							133	128	130					6																	112476778		2203	4300	6503	SO:0001587	stop_gained	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476778G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1948C>T	6.37:g.112476778G>A	ENSP00000230538:p.Arg650*					LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA	p.R650*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	15	2345	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	650			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	c.1948C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.576240	0.99210	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.42	2.35	0.29111	.	0.213448	0.44902	D	0.000405	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6393	0.56700	0.0:0.0:0.5638:0.4362	.	.	.	.	X	650;643;643;643	.	ENSP00000230538:R650X	R	-	1	2	LAMA4	112583471	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	1.637000	0.37155	0.799000	0.34018	0.563000	0.77884	CGA		0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		93	378	0	0	0	1	0	93	378					A	112476778	G	A	112476778	4	1	79	1	0	0	0	0	0	1	0	0	8639	1124	39	1	3623	1	LAMA4	6	112476778	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22199	112476778	58638289	7759	18076											
LAMA4	3910	broad.mit.edu	37	chr6	112479990	112479990	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatggtcaatagcttcttgGactaaatcatggctgaggtt	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000424408.2_Silent_p.V580V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	587	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGCTTCTTGGACTAAATCAT	0.378																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1759-1761)gtC>gtT		laminin, alpha 4							195	177	183					6																	112479990		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479990G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1761C>T	6.37:g.112479990G>A						LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000389463.4_Silent_p.V580V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V580V	p.V587V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2158	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	587			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1761C>T	CCDS43491.1																																																																																				0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		18	353	0	0	0	1	0	18	353					A	112479990	G	A	112479990	2	1	79	1	0	0	0	0	0	0	0	1	8639	1161	41	2		2	LAMA4	6	112479990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3212	112479990	58635077	7760	18077											
LAMA4	3910	broad.mit.edu	37	chr6	112480017	112480017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctgaggttacttagGttagatagttttacttgtag	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000424408.2_Silent_p.N571N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	578	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1732-1734)aaC>aaT		laminin, alpha 4							195	175	182					6																	112480017		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480017G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1734C>T	6.37:g.112480017G>A						LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000389463.4_Silent_p.N571N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.N571N	p.N578N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2131	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	578			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1734C>T	CCDS43491.1																																																																																				0.338	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		75	270	0	0	0	1	0	75	270					A	112480017	G	A	112480017	2	1	79	1	0	0	0	0	0	0	0	1	8639	1252	44	2		2	LAMA4	6	112480017	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	112480017	58635050	7761	18078											
RFPL4B	442247	broad.mit.edu	37	chr6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagaggtgaagtcatggtCcctgggcgtctgcaaggagc	18	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	159	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTCATGGTCCCTGGGCGTC	0.547																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(475-477)tCc>tTc		ret finger protein-like 4B							71	75	74					6																	112671386		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671386C>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.476C>T	6.37:g.112671386C>T	ENSP00000423391:p.Ser159Phe						p.S159F	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	788	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	159			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.476C>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552209	0.45487	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.14	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.779066	0.10503	N	0.667099	T	0.52008	0.1708	L	0.35487	1.065	0.09310	N	1	D	0.62365	0.991	P	0.56163	0.793	T	0.33979	-0.9847	10	0.26408	T	0.33	.	5.4047	0.16314	0.1975:0.7003:0.0:0.1021	.	159	Q6ZWI9	RFPLB_HUMAN	F	159	ENSP00000423391:S159F	ENSP00000423391:S159F	S	+	2	0	RFPL4B	112778079	0.000000	0.05858	0.043000	0.18650	0.064000	0.16182	0.069000	0.14552	1.342000	0.45619	0.655000	0.94253	TCC		0.547	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		49	291	0	0	0	1	0	49	291					T	112671386	C	T	112671386	3	4	79	1	0	0	0	0	1	0	0	0	13306	855	30	2	478	2	RFPL4B	6	112671386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191369	112671386	58443681	7762	18079											
FRK	2444	broad.mit.edu	37	chr6	116381319	116381319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtccgagcctggtaAtcaaacaaagccacaaagta	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	52	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GAGCCTGGTAATCAAACAAAG	0.532																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(154-156)gaT>gaC		fyn-related kinase							102	104	103					6																	116381319		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116381319A>G	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.156T>C	6.37:g.116381319A>G							p.D52D	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	1	602	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	52			SH3.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.156T>C	CCDS5103.1																																																																																				0.532	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		91	463	0	0	0	1	0	91	463					G	116381319	A	G	116381319	2	3	79	1	0	0	0	0	0	0	0	1	6075	98	4	4		4	FRK	6	116381319	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3709933	116381319	54733748	7763	18080											
NT5DC1	221294	broad.mit.edu	37	chr6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattataaaatgtcagctTttaagggtaagtattgtgaa	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	175							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(523-525)Ttt>Ctt		5'-nucleotidase domain containing 1							92	93	92					6																	116439102		2203	4298	6501	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116439102T>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic II-like 1"	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.523T>C	6.37:g.116439102T>C	ENSP00000326858:p.Phe175Leu						p.F175L	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	6	605	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	175					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.523T>C	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.311997	0.95655	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.20881	2.85;2.04	5.76	5.76	0.90799	HAD-like domain (1);	0.109289	0.64402	D	0.000002	T	0.32102	0.0818	L	0.53561	1.675	0.80722	D	1	D;P;D	0.59767	0.986;0.94;0.984	D;P;P	0.67900	0.954;0.884;0.721	T	0.02567	-1.1140	10	0.52906	T	0.07	-8.5095	16.3634	0.83296	0.0:0.0:0.0:1.0	.	125;175;175	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	175	ENSP00000326858:F175L;ENSP00000393578:F175L	ENSP00000326858:F175L	F	+	1	0	NT5DC1	116545795	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.866000	0.75506	2.324000	0.78689	0.533000	0.62120	TTT		0.328	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		40	163	0	0	0	1	0	40	163					C	116439102	T	C	116439102	3	2	79	1	0	0	0	0	1	0	0	0	10732	1841	64	4	545	4	NT5DC1	6	116439102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57783	116439102	54675965	7764	18081											
COL10A1	1300	broad.mit.edu	37	chr6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtactcacattggaGccactaggaatcctgagaaa	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D|AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	678	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				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)			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)		TCACATTGGAGCCACTAGGAA	0.458																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(2032-2034)gCt>gAt		collagen, type X, alpha 1							104	113	110					6																	116441246		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116441246G>T		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.2033C>A	6.37:g.116441246G>T	ENSP00000327368:p.Ala678Asp					NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D	p.A678D			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)	2	2440	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	678			C1q.|Nonhelical region (NC1).		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.2033C>A	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520158	0.44866	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.86097	-2.07;-2.07	5.08	5.08	0.68730	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	P	0.59056	0.851	D	0.88058	0.2792	10	0.59425	D	0.04	.	14.4628	0.67462	0.0:0.147:0.853:0.0	.	678	Q03692	COAA1_HUMAN	D	678	ENSP00000243222:A678D;ENSP00000327368:A678D	ENSP00000243222:A678D	A	-	2	0	COL10A1	116547939	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.494000	0.60347	2.539000	0.85634	0.455000	0.32223	GCT		0.458	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			51	628	1	0	2.0833e-19	1	2.32388e-19	51	628					T	116441246	G	T	116441246	3	4	79	1	0	0	0	0	1	0	0	0	3675	971	34	3	13	3	COL10A1	6	116441246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	116441246	54673821	7765	18082											
COL10A1	1300	broad.mit.edu	37	chr6	116442730	116442730	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttctgtccattcatAccagggactcctggtgcacc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	COL10A1_ENST00000243222.4_Silent_p.G183G|AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	183	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)			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)		GTCCATTCATACCAGGGACTC	0.592																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(547-549)ggT>ggC		collagen, type X, alpha 1							47	47	47					6																	116442730		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442730A>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.549T>C	6.37:g.116442730A>G						AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G	p.G183G			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)	2	956	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	183			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.549T>C	CCDS5105.1																																																																																				0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			54	204	0	0	0	1	0	54	204					G	116442730	A	G	116442730	2	3	79	1	0	0	0	0	0	0	0	1	3675	378	14	4		4	COL10A1	6	116442730	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484	116442730	54672337	7766	18083											
TSPYL1	7259	broad.mit.edu	37	chr6	116600781	116600781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcccgcggcatcctgGggtacgcccccctcctctga	11	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	71					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCATCCTGGGGTACGCCCC	0.701																																						ENST00000368608.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(211-213)ccC>ccT		TSPY-like 1							25	29	28					6																	116600781		2132	4182	6314	SO:0001819	synonymous_variant	7259				nucleosome assembly	nucleolus		g.chr6:116600781G>A	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.213C>T	6.37:g.116600781G>A						DSE_ENST00000540275.1_Intron	p.P71P	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	285	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	71					O75885|Q5TFE6	Silent	SNP	ENST00000368608.3	37	c.213C>T	CCDS34518.1																																																																																				0.701	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			26	348	0	0	0	1	0	26	348					A	116600781	G	A	116600781	2	1	79	1	0	0	0	0	0	0	0	1	16712	1219	43	2		2	TSPYL1	6	116600781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158051	116600781	54514286	7767	18084											
DSE	29940	broad.mit.edu	37	chr6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaggactacagtgcccGctggaatgaaatttttggaa	10	9	0	1	rs534459729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	97					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACAGTGCCCGCTGGAATGAA	0.542													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19623	0.0		0.0	False		,,,				2504	0.0041					ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(289-291)cGc>cAc		dermatan sulfate epimerase							40	42	41					6																	116720703		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720703G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.290G>A	6.37:g.116720703G>A	ENSP00000332151:p.Arg97His					DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H|DSE_ENST00000537543.1_Missense_Mutation_p.R116H	p.R97H			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	734	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	97					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.290G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678193	0.88542	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.965	T	0.42464	-0.9450	10	0.72032	D	0.01	-16.5762	19.4929	0.95059	0.0:0.0:1.0:0.0	.	116;97	B7Z765;Q9UL01	.;DSE_HUMAN	H	97;97;116;97;97	ENSP00000397597:R97H;ENSP00000404049:R97H;ENSP00000441152:R116H;ENSP00000332151:R97H;ENSP00000352567:R97H	ENSP00000332151:R97H	R	+	2	0	DSE	116827396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.569000	0.73992	2.835000	0.97688	0.650000	0.86243	CGC		0.542	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		44	238	0	0	0	1	0	44	238					A	116720703	G	A	116720703	3	1	79	1	0	0	0	0	1	0	0	0	4790	1087	38	1	292	1	DSE	6	116720703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119922	116720703	54394364	7768	18085											
DSE	29940	broad.mit.edu	37	chr6	116747782	116747782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcccgcttgctcactcCctggttggttttgccactgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000359564.2_Silent_p.S154S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(460-462)tcC>tcT		dermatan sulfate epimerase							108	99	102					6																	116747782		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747782C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.462C>T	6.37:g.116747782C>T						DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000606265.1_3'UTR	p.S154S			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	4	906	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	154					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.462C>T	CCDS5107.1																																																																																				0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		91	397	0	0	0	1	0	91	397					T	116747782	C	T	116747782	2	4	79	1	0	0	0	0	0	0	0	1	4790	610	22	2		2	DSE	6	116747782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27079	116747782	54367285	7769	18086											
DSE	29940	broad.mit.edu	37	chr6	116747899	116747899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgtatgaaacttcataCaggagaggatggggatttca	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000359564.2_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAACTTCATACAGGAGAGGAT	0.458																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(577-579)taC>taT		dermatan sulfate epimerase							108	95	99					6																	116747899		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747899C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.579C>T	6.37:g.116747899C>T						DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_Silent_p.Y193Y|DSE_ENST00000537543.1_Silent_p.Y212Y	p.Y193Y			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	4	1023	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	193					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.579C>T	CCDS5107.1																																																																																				0.458	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		101	388	0	0	0	1	0	101	388					T	116747899	C	T	116747899	2	4	79	1	0	0	0	0	0	0	0	1	4790	489	17	2		2	DSE	6	116747899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	116747899	54367168	7770	18087											
DSE	29940	broad.mit.edu	37	chr6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttgcacaggtcattgCtgatcgtcacaaaattctgt	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	714					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTCATTGCTGATCGTCAC	0.502																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2140-2142)gCt>gAt		dermatan sulfate epimerase							100	95	97					6																	116757772		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757772C>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2141C>A	6.37:g.116757772C>A	ENSP00000332151:p.Ala714Asp					DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D|DSE_ENST00000537543.1_Missense_Mutation_p.A733D	p.A714D			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2585	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	714					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2141C>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807703	0.50421	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.06	6.06	0.98353	.	0.164825	0.56097	D	0.000029	T	0.67896	0.2942	L	0.51422	1.61	0.49389	D	0.999787	D;D	0.60160	0.987;0.987	P;P	0.60682	0.878;0.731	T	0.60969	-0.7157	10	0.33940	T	0.23	-13.3396	20.6397	0.99537	0.0:1.0:0.0:0.0	.	733;714	B7Z765;Q9UL01	.;DSE_HUMAN	D	714;733;714;714	ENSP00000404049:A714D;ENSP00000441152:A733D;ENSP00000332151:A714D;ENSP00000352567:A714D	ENSP00000332151:A714D	A	+	2	0	DSE	116864465	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	4.336000	0.59304	2.880000	0.98712	0.650000	0.86243	GCT		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		78	438	1	0	8.50452e-49	1	1.05053e-48	78	438					A	116757772	C	A	116757772	3	1	79	1	0	0	0	0	1	0	0	0	4790	797	28	3	2159	3	DSE	6	116757772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9873	116757772	54357295	7771	18088											
FAM26D	221301	broad.mit.edu	37	chr6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcactctcggctccTcatgatgcatcgcataaaga	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	243					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493																																						ENST00000368596.3																			0				endometrium(1)|lung(5)	6						c.(727-729)cTc>cCc		family with sequence similarity 26, member D							115	112	113					6																	116879157		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879157T>C	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 78"	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.728T>C	6.37:g.116879157T>C	ENSP00000357585:p.Leu243Pro					FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P	p.L243P			Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	2	772	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	243					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.728T>C		.	.	.	.	.	.	.	.	.	.	T	15.27	2.784955	0.49997	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.99	5.99	0.97316	.	0.376324	0.22983	N	0.053285	T	0.32376	0.0827	M	0.83774	2.66	0.28482	N	0.914892	D;D	0.69078	0.997;0.988	D;P	0.63192	0.912;0.824	T	0.43032	-0.9416	10	0.59425	D	0.04	-0.0094	9.6239	0.39739	0.2437:0.0:0.0:0.7563	.	99;243	B4DTQ0;Q5JW98	.;FA26D_HUMAN	P	99;57;57;100;243	ENSP00000416976:L99P;ENSP00000357586:L57P;ENSP00000409556:L57P;ENSP00000385836:L100P;ENSP00000357585:L243P	ENSP00000357585:L243P	L	+	2	0	FAM26D	116985850	0.815000	0.29118	0.080000	0.20451	0.593000	0.36681	2.404000	0.44539	2.296000	0.77279	0.533000	0.62120	CTC		0.493	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		52	510	0	0	0	1	0	52	510					C	116879157	T	C	116879157	3	2	79	1	0	0	0	0	1	0	0	0	5574	1551	54	4	172	4	FAM26D	6	116879157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121385	116879157	54235910	7772	18089											
RSPH4A	345895	broad.mit.edu	37	chr6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatgcttgagatcaccattCagaatgctaaggcttacctg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	212					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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(634-636)Cag>Tag		radial spoke head 4 homolog A (Chlamydomonas)							67	78	75					6																	116938420		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938420C>T		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.634C>T	6.37:g.116938420C>T	ENSP00000229554:p.Gln212*					RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			1	771	+			212					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.634C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998061	0.93227	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	5.01	4.13	0.48395	.	0.318663	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.7371	11.2373	0.48949	0.0:0.8155:0.1845:0.0	.	.	.	.	X	212;212;7;212	.	ENSP00000229554:Q212X	Q	+	1	0	RSPH4A	117045113	0.995000	0.38212	0.899000	0.35326	0.479000	0.33129	4.048000	0.57390	1.314000	0.45095	0.467000	0.42956	CAG		0.478	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		133	554	0	0	0	1	0	133	554					T	116938420	C	T	116938420	4	4	79	1	0	0	0	0	0	1	0	0	13756	827	29	2	636	2	RSPH4A	6	116938420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59263	116938420	54176647	7773	18090											
RSPH4A	345895	broad.mit.edu	37	chr6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttgcaatgaaccaggaaGaccatgggtgaagttaccac	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	439					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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1315-1317)aGa>aAa		radial spoke head 4 homolog A (Chlamydomonas)							79	77	78					6																	116949186		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949186G>A		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.1316G>A	6.37:g.116949186G>A	ENSP00000229554:p.Arg439Lys					RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	p.R439K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1453	+			439					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1316G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575649	0.28092	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.15952	2.38;2.38	5.74	3.85	0.44370	.	0.839247	0.11466	N	0.561204	T	0.02807	0.0084	N	0.12746	0.255	0.22511	N	0.999032	B;B	0.19445	0.02;0.036	B;B	0.25614	0.008;0.062	T	0.34004	-0.9846	10	0.05721	T	0.95	-8.6964	13.3698	0.60707	0.0:0.4343:0.5657:0.0	.	439;439	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	439;439;234	ENSP00000357570:R439K;ENSP00000229554:R439K	ENSP00000229554:R439K	R	+	2	0	RSPH4A	117055879	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.347000	0.44036	1.415000	0.47037	-0.165000	0.13383	AGA		0.398	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		65	328	0	0	0	1	0	65	328					A	116949186	G	A	116949186	3	1	79	1	0	0	0	0	1	0	0	0	13756	942	33	2	1326	2	RSPH4A	6	116949186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10766	116949186	54165881	7774	18091											
ZUFSP	221302	broad.mit.edu	37	chr6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatgtacacactacctttgGactcccttctccctctgaag	6	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	474							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1420-1422)Cca>Aca		zinc finger with UFM1-specific peptidase domain							123	129	127					6																	116968670		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116968670G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1420C>A	6.37:g.116968670G>T	ENSP00000357565:p.Pro474Thr						p.P474T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	8	1663	-			474					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1420C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019786	0.08006	.	.	ENSG00000153975	ENST00000368576	T	0.28255	1.62	5.28	1.43	0.22495	.	0.488081	0.22018	N	0.065772	T	0.07593	0.0191	L	0.46157	1.445	0.22240	N	0.99927	B	0.21381	0.055	B	0.18263	0.021	T	0.39683	-0.9602	10	0.17832	T	0.49	-3.6716	5.8903	0.18909	0.2433:0.3319:0.4247:0.0	.	474	Q96AP4	ZUFSP_HUMAN	T	474	ENSP00000357565:P474T	ENSP00000357565:P474T	P	-	1	0	ZUFSP	117075363	0.995000	0.38212	0.014000	0.15608	0.352000	0.29268	0.566000	0.23593	-0.026000	0.13895	-0.657000	0.03884	CCA		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		74	352	1	0	1.07941e-43	1	1.31874e-43	74	352					T	116968670	G	T	116968670	3	4	79	1	0	0	0	0	1	0	0	0	18299	1174	41	3	328	3	ZUFSP	6	116968670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19484	116968670	54146397	7775	18092											
ZUFSP	221302	broad.mit.edu	37	chr6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtgagctttcatgtctgGttctgaggttactgtttcac	11	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	15							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(43-45)Cca>Aca		zinc finger with UFM1-specific peptidase domain							78	79	78					6																	116988313		2197	4297	6494	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116988313G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.43C>A	6.37:g.116988313G>T	ENSP00000357565:p.Pro15Thr					ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T|ZUFSP_ENST00000471919.1_Intron	p.P15T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	286	-			15					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.43C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474248	0.26423	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.41758	0.99;1.69	5.94	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.556492	0.20197	N	0.097170	T	0.12220	0.0297	L	0.46157	1.445	0.26349	N	0.977233	B	0.27013	0.166	B	0.28916	0.096	T	0.21965	-1.0230	10	0.30854	T	0.27	-7.5367	1.1741	0.01832	0.2616:0.1504:0.4327:0.1552	.	15	Q96AP4	ZUFSP_HUMAN	T	15	ENSP00000357565:P15T;ENSP00000357562:P15T	ENSP00000357562:P15T	P	-	1	0	ZUFSP	117095006	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.902000	0.28459	0.350000	0.24002	-0.367000	0.07326	CCA		0.328	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		79	378	1	0	2.05912e-35	1	2.45818e-35	79	378					T	116988313	G	T	116988313	3	4	79	1	0	0	0	0	1	0	0	0	18299	1261	44	3	1729	3	ZUFSP	6	116988313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19643	116988313	54126754	7776	18093											
KPNA5	3841	broad.mit.edu	37	chr6	117037383	117037383	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttcttggcaggTtattaacaaattcaaacaga	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	217	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTGGCAGGTTATTAACAAA	0.318																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e8-1		karyopherin alpha 5 (importin alpha 6)							53	56	55					6																	117037383		2203	4300	6503	SO:0001630	splice_region_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117037383T>C	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.657-1T>C	6.37:g.117037383T>C						KPNA5_ENST00000356348.1_Splice_Site_p.L220_splice	p.L220_splice			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	8	806	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	217			NLS binding site (major) (By similarity).		B2RAI5|Q86X23	Splice_Site	SNP	ENST00000368564.1	37	c.656_splice	CCDS5111.1																																																																																				0.318	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	Silent	49	219	0	0	0	1	0	49	219					C	117037383	T	C	117037383	5	2	79	1	0	0	0	0	0	0	1	0	8463	1739	60	4	688	4	KPNA5	6	117037383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49070	117037383	54077684	7777	18094											
GPRC6A	222545	broad.mit.edu	37	chr6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacaacaaggttaccttaaGattcctgaactcattttttg	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	515					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(1543-1545)Ctt>Ttt		G protein-coupled receptor, family C, group 6, member A							163	140	148					6																	117121752		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117121752G>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1543C>T	6.37:g.117121752G>A	ENSP00000309493:p.Leu515Phe					GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F	p.L515F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	4	1564	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	515					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1543C>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792635	0.16258	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.51;-2.76	5.35	4.49	0.54785	.	0.000000	0.44483	D	0.000448	T	0.79015	0.4375	N	0.08118	0	0.36485	D	0.868098	D;D	0.56968	0.978;0.974	P;P	0.54815	0.761;0.553	T	0.83025	-0.0165	10	0.56958	D	0.05	.	5.8547	0.18712	0.3116:0.0:0.6884:0.0	.	340;515	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	F	515;340	ENSP00000309493:L515F;ENSP00000433465:L340F	ENSP00000309493:L515F	L	-	1	0	GPRC6A	117228445	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.238000	0.43070	1.498000	0.48600	0.585000	0.79938	CTT		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			88	383	0	0	0	1	0	88	383					A	117121752	G	A	117121752	3	1	79	1	0	0	0	0	1	0	0	0	6758	942	33	2	1249	2	GPRC6A	6	117121752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84369	117121752	53993315	7778	18095											
RFX6	222546	broad.mit.edu	37	chr6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagcagacacagctcaCgctgcagtggtgagactcgc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	124					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGCTCACGCTGCAGTGG	0.468																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(370-372)aCg>aTg		regulatory factor X, 6							64	57	59					6																	117199106		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117199106C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.371C>T	6.37:g.117199106C>T	ENSP00000332208:p.Thr124Met						p.T124M	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			2	387	+			124					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.371C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704563	0.88924	.	.	ENSG00000185002	ENST00000332958	D	0.83419	-1.72	5.36	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.56097	D	0.000029	D	0.88145	0.6358	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-17.2098	14.6252	0.68616	0.0:0.9287:0.0:0.0713	.	124	Q8HWS3	RFX6_HUMAN	M	124	ENSP00000332208:T124M	ENSP00000332208:T124M	T	+	2	0	RFX6	117305799	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.142000	0.64820	2.789000	0.95967	0.591000	0.81541	ACG		0.468	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		34	165	0	0	0	1	0	34	165					T	117199106	C	T	117199106	3	4	79	1	0	0	0	0	1	0	0	0	13317	536	19	1	377	1	RFX6	6	117199106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77354	117199106	53915961	7779	18096											
RFX6	222546	broad.mit.edu	37	chr6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttctttttagacaattCgccagaagtttcccctccta	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTAGACAATTCGCCAGAAGTT	0.403																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(511-513)Cgc>Tgc		regulatory factor X, 6							97	87	90					6																	117203536		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203536C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.511C>T	6.37:g.117203536C>T	ENSP00000332208:p.Arg171Cys						p.R171C	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	527	+			171					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.511C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050990	0.93740	.	.	ENSG00000185002	ENST00000332958	D	0.86694	-2.16	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94452	0.7668	10	0.87932	D	0	-16.0365	19.7727	0.96373	0.0:1.0:0.0:0.0	.	171	Q8HWS3	RFX6_HUMAN	C	171	ENSP00000332208:R171C	ENSP00000332208:R171C	R	+	1	0	RFX6	117310229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.689000	0.91719	0.650000	0.86243	CGC		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		38	187	0	0	0	1	0	38	187					T	117203536	C	T	117203536	3	4	79	1	0	0	0	0	1	0	0	0	13317	884	31	1	525	1	RFX6	6	117203536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4430	117203536	53911531	7780	18097											
RFX6	222546	broad.mit.edu	37	chr6	117203554	117203554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccagaagtttcccctcCtaacaacaaggcggcttgga	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203554C>A	ENST00000332958.2	+	4	545	c.529C>A	c.(529-531)Cta>Ata	p.L177I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	177					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(529-531)Cta>Ata		regulatory factor X, 6							103	90	94					6																	117203554		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203554C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.529C>A	6.37:g.117203554C>A	ENSP00000332208:p.Leu177Ile						p.L177I	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	545	+			177					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.529C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094011	0.76870	.	.	ENSG00000185002	ENST00000332958	D	0.84944	-1.92	5.67	3.77	0.43336	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.82793	0.5114	L	0.39467	1.215	0.53005	D	0.999967	D	0.71674	0.998	D	0.76575	0.988	D	0.83939	0.0310	10	0.87932	D	0	-12.8362	7.4403	0.27179	0.0:0.7691:0.0:0.2309	.	177	Q8HWS3	RFX6_HUMAN	I	177	ENSP00000332208:L177I	ENSP00000332208:L177I	L	+	1	2	RFX6	117310247	0.969000	0.33509	0.973000	0.42090	0.996000	0.88848	1.594000	0.36697	0.636000	0.30508	0.650000	0.86243	CTA		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		49	193	1	0	1.11015e-26	1	1.28132e-26	49	193					A	117203554	C	A	117203554	3	1	79	1	0	0	0	0	1	0	0	0	13317	680	24	3	543	3	RFX6	6	117203554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	117203554	53911513	7781	18098											
RFX6	222546	broad.mit.edu	37	chr6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctctttgaccagcatgTcgttaattctatggtgtctg	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	405					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCATGTCGTTAATTCT	0.393																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1213-1215)gTc>gCc		regulatory factor X, 6							207	188	195					6																	117241504		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241504T>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1214T>C	6.37:g.117241504T>C	ENSP00000332208:p.Val405Ala						p.V405A	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			12	1230	+			405					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1214T>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399836	0.62177	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.56769	1.78	0.58432	D	0.99999	P	0.39665	0.682	B	0.36134	0.218	T	0.46555	-0.9183	10	0.54805	T	0.06	-16.6606	15.8276	0.78727	0.0:0.0:0.0:1.0	.	405	Q8HWS3	RFX6_HUMAN	A	405	ENSP00000332208:V405A	ENSP00000332208:V405A	V	+	2	0	RFX6	117348197	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.649000	0.83500	2.122000	0.65172	0.533000	0.62120	GTC		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		140	622	0	0	0	1	0	140	622					C	117241504	T	C	117241504	3	2	79	1	0	0	0	0	1	0	0	0	13317	1667	58	4	1260	4	RFX6	6	117241504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37950	117241504	53873563	7782	18099											
RFX6	222546	broad.mit.edu	37	chr6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagtgtcattaaccaaGgaccaatggcagggaggccc	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	659					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTAACCAAGGACCAATGGC	0.527																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1975-1977)Gga>Tga		regulatory factor X, 6							135	129	131					6																	117248279		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248279G>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1975G>T	6.37:g.117248279G>T	ENSP00000332208:p.Gly659*						p.G659*	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			17	1991	+			659					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.1975G>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	38	6.762283	0.97821	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.68	5.68	0.88126	.	0.342302	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.095	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000332208:G659X	G	+	1	0	RFX6	117354972	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.142000	0.77339	2.682000	0.91365	0.655000	0.94253	GGA		0.527	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		112	569	1	0	4.50738e-69	1	5.71813e-69	112	569					T	117248279	G	T	117248279	4	4	79	1	0	0	0	0	0	1	0	0	13317	1001	35	3	2041	3	RFX6	6	117248279	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6775	117248279	53866788	7783	18100											
VGLL2	245806	broad.mit.edu	37	chr6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaagtctatggtcctcCgcagccctacttcgcagccg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	14					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(40-42)cCg>cTg		vestigial like 2 (Drosophila)							113	90	98					6																	117586967		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586967C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.41C>T	6.37:g.117586967C>T	ENSP00000320957:p.Pro14Leu					VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	p.P14L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	231	+			14					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.41C>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326846	0.81690	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.43294	0.95	5.17	4.29	0.51040	.	0.072118	0.56097	D	0.000031	T	0.22666	0.0547	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.60160	0.456;0.987	B;P	0.45377	0.082;0.478	T	0.03249	-1.1056	10	0.52906	T	0.07	-8.7661	14.9909	0.71387	0.1438:0.8562:0.0:0.0	.	14;14	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	L	14	ENSP00000320957:P14L	ENSP00000320957:P14L	P	+	2	0	VGLL2	117693660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.794000	0.47853	1.154000	0.42482	0.563000	0.77884	CCG		0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		39	183	0	0	0	1	0	39	183					T	117586967	C	T	117586967	3	4	79	1	0	0	0	0	1	0	0	0	17213	652	23	1	43	1	VGLL2	6	117586967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338688	117586967	53528100	7784	18101											
ROS1	6098	broad.mit.edu	37	chr6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtctgcatgtggttcCttctcttctttcctcagacc	6	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2307					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)		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)		CATGTGGTTCCTTCTCTTCTT	0.478			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(6919-6921)aaG>aaT		c-ros oncogene 1 , receptor tyrosine kinase							113	112	112					6																	117609778		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.chr6:117609778C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6921G>T	6.37:g.117609778C>A	ENSP00000357494:p.Lys2307Asn					ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	p.K2307N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7119	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2307					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6921G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781434	0.49891	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.74002	-0.8;-0.8	4.5	3.64	0.41730	.	0.463960	0.18299	N	0.145467	T	0.45115	0.1326	L	0.27053	0.805	0.30118	N	0.805934	P	0.41313	0.745	B	0.38803	0.282	T	0.41520	-0.9504	10	0.72032	D	0.01	.	9.7257	0.40330	0.0:0.9041:0.0:0.0959	.	2307	P08922	ROS1_HUMAN	N	2307;2301	ENSP00000357494:K2307N;ENSP00000357493:K2301N	ENSP00000357493:K2301N	K	-	3	2	ROS1	117716471	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.783000	0.26802	1.118000	0.41863	0.563000	0.77884	AAG		0.478	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			56	257	1	0	7.77372e-23	1	8.81276e-23	56	257					A	117609778	C	A	117609778	3	1	79	1	0	0	0	0	1	0	0	0	13581	680	24	3	126	3	ROS1	6	117609778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22811	117609778	53505289	7785	18102											
ROS1	6098	broad.mit.edu	37	chr6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaccaatagcttcaCgtgggtaacaatgtctgtgt	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	785					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)		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)		AATAGCTTCACGTGGGTAACA	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(2353-2355)Gtg>Atg		c-ros oncogene 1 , receptor tyrosine kinase							226	203	211					6																	117704623		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.chr6:117704623C>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.2353G>A	6.37:g.117704623C>T	ENSP00000357494:p.Val785Met					ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	p.V785M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2551	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	785					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2353G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524783	0.44969	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91577	-2.87;-2.87	4.57	3.68	0.42216	.	0.126462	0.35378	N	0.003247	D	0.87229	0.6125	N	0.19112	0.55	0.36010	D	0.837963	D	0.76494	0.999	D	0.65987	0.94	D	0.89157	0.3527	10	0.72032	D	0.01	.	11.0181	0.47701	0.0:0.9065:0.0:0.0935	.	785	P08922	ROS1_HUMAN	M	785;780	ENSP00000357494:V785M;ENSP00000357493:V780M	ENSP00000357493:V780M	V	-	1	0	ROS1	117811316	0.997000	0.39634	0.916000	0.36221	0.490000	0.33462	3.832000	0.55783	2.260000	0.74910	0.655000	0.94253	GTG		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			141	723	0	0	0	1	0	141	723					T	117704623	C	T	117704623	3	4	79	1	0	0	0	0	1	0	0	0	13581	536	19	1	4802	1	ROS1	6	117704623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94845	117704623	53410444	7786	18103											
ROS1	6098	broad.mit.edu	37	chr6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgacttcaggagggtcTtgggtggatactttcacctc	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	617	Fibronectin type-III 3. {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)		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)		CAGGAGGGTCTTGGGTGGATA	0.443			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(1849-1851)caA>caC		c-ros oncogene 1 , receptor tyrosine kinase							150	148	149					6																	117709106		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.chr6:117709106T>G	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.1851A>C	6.37:g.117709106T>G	ENSP00000357494:p.Gln617His					ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	p.Q617H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2049	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	617			Fibronectin type-III 3.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1851A>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932830	0.52866	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84800	-1.9;1.08	5.39	0.293	0.15742	.	0.190179	0.37393	N	0.002110	T	0.75803	0.3899	L	0.47716	1.5	0.22903	N	0.998584	P	0.45348	0.856	P	0.51582	0.674	T	0.71374	-0.4612	10	0.66056	D	0.02	.	9.4166	0.38525	0.0:0.3978:0.0:0.6022	.	617	P08922	ROS1_HUMAN	H	617;612	ENSP00000357494:Q617H;ENSP00000357493:Q612H	ENSP00000357493:Q612H	Q	-	3	2	ROS1	117815799	0.015000	0.18098	0.207000	0.23584	0.900000	0.52787	-0.068000	0.11561	-0.094000	0.12374	0.459000	0.35465	CAA		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			152	657	0	0	0	1	0	152	657					G	117709106	T	G	117709106	3	3	79	1	0	0	0	0	1	0	0	0	13581	1606	56	4	5316	4	ROS1	6	117709106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4483	117709106	53405961	7787	18104											
ROS1	6098	broad.mit.edu	37	chr6	117718173	117718173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatcagccttaagttAtaacccaaaataggtccacc	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	228	Fibronectin type-III 2. {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)		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)		GCCTTAAGTTATAACCCAAAA	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(682-684)taT>taC		c-ros oncogene 1 , receptor tyrosine kinase							120	125	123					6																	117718173		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718173A>G	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.684T>C	6.37:g.117718173A>G						ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	p.Y228Y	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	882	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	228			Fibronectin type-III 2.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.684T>C	CCDS5116.1																																																																																				0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			123	550	0	0	0	1	0	123	550					G	117718173	A	G	117718173	2	3	79	1	0	0	0	0	0	0	0	1	13581	456	16	4		4	ROS1	6	117718173	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9067	117718173	53396894	7788	18105											
ROS1	6098	broad.mit.edu	37	chr6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacactgcaccacagaaatCcataggcagccaagagttgc	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	21					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)		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)		CCACAGAAATCCATAGGCAGC	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(61-63)tgG>tgA		c-ros oncogene 1 , receptor tyrosine kinase							126	124	125					6																	117746757		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117746757C>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.63G>A	6.37:g.117746757C>T	ENSP00000357494:p.Trp21*					ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	p.W21*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	1	261	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	21					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.63G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	38	7.047808	0.98025	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.11	4.24	0.50183	.	0.289012	0.25848	N	0.027918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5281	0.39175	0.0:0.9049:0.0:0.0951	.	.	.	.	X	21	.	ENSP00000357493:W21X	W	-	3	0	ROS1	117853450	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.880000	0.56145	1.529000	0.49120	0.655000	0.94253	TGG		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			95	506	0	0	0	1	0	95	506					T	117746757	C	T	117746757	4	4	79	1	0	0	0	0	0	1	0	0	13581	856	30	2	7152	2	ROS1	6	117746757	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28584	117746757	53368310	7789	18106											
DCBLD1	285761	broad.mit.edu	37	chr6	117841037	117841037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaacacaagtgaagtAaccgtccgctttgagagtgg	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	128	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(382-384)gtA>gtG		discoidin, CUB and LCCL domain containing 1							143	130	134					6																	117841037		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117841037A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.384A>G	6.37:g.117841037A>G						DCBLD1_ENST00000368503.4_Silent_p.V128V|DCBLD1_ENST00000296955.8_Silent_p.V128V|GOPC_ENST00000467125.1_Intron	p.V128V			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	3	504	+		all_cancers(87;0.171)	128			CUB.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.384A>G																																																																																					0.438	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		80	312	0	0	0	1	0	80	312					G	117841037	A	G	117841037	2	3	79	1	0	0	0	0	0	0	0	1	4291	349	13	4		4	DCBLD1	6	117841037	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94280	117841037	53274030	7790	18107											
NUS1	116150	broad.mit.edu	37	chr6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttaaattgccatttgGcagtgaaggtgctgtctccg	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	187					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378																																						ENST00000368494.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8						c.(559-561)Gca>Aca		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							64	67	66					6																	118015211		2203	4300	6503	SO:0001583	missense	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118015211G>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)"	610463	"chromosome 6 open reading frame 68"	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.559G>A	6.37:g.118015211G>A	ENSP00000357480:p.Ala187Thr						p.A187T	NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	3	728	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	187					B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	37	c.559G>A	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442613	0.12164	.	.	ENSG00000153989	ENST00000368494	T	0.15487	2.42	5.23	2.21	0.28008	.	0.345965	0.34750	N	0.003709	T	0.01905	0.0060	N	0.20766	0.605	0.20403	N	0.99991	B	0.11235	0.004	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	-0.2215	5.2402	0.15467	0.19:0.0:0.4535:0.3565	.	187	Q96E22	NGBR_HUMAN	T	187	ENSP00000357480:A187T	ENSP00000357480:A187T	A	+	1	0	NUS1	118121904	0.021000	0.18746	0.640000	0.29408	0.971000	0.66376	0.198000	0.17217	0.663000	0.31027	0.650000	0.86243	GCA		0.378	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		90	393	0	0	0	1	0	90	393					A	118015211	G	A	118015211	3	1	79	1	0	0	0	0	1	0	0	0	10819	1203	42	2	569	2	NUS1	6	118015211	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174174	118015211	53099856	7791	18108											
SLC35F1	222553	broad.mit.edu	37	chr6	118475773	118475773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctataccaccacactagcCgtcagacaaggtaagctcac	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	113					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(337-339)gcC>gcT		solute carrier family 35, member F1							147	144	145					6																	118475773		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118475773C>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.339C>T	6.37:g.118475773C>T							p.A113A	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	540	+			113					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.339C>T	CCDS34524.1																																																																																				0.408	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		114	571	0	0	0	1	0	114	571					T	118475773	C	T	118475773	2	4	79	1	0	0	0	0	0	0	0	1	14638	639	23	1		1	SLC35F1	6	118475773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460562	118475773	52639294	7792	18109											
C6orf204	387119	broad.mit.edu	37	chr6	118803068	118803068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaaagcctcttgtaaaTtcttatttttttcttccaga	3	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803068T>G	ENST00000368491.3	-	8	2240	c.1619A>C	c.(1618-1620)aAt>aCt	p.N540T	CEP85L_ENST00000368488.5_Missense_Mutation_p.N543T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	540						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTCTTGTAAATTCTTATTTTT	0.303																																						ENST00000368491.3																			0											c.(1618-1620)aAt>aCt		centrosomal protein 85kDa-like							70	61	64					6																	118803068		1792	4062	5854	SO:0001583	missense	387119					centrosome		g.chr6:118803068T>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1619A>C	6.37:g.118803068T>G	ENSP00000357477:p.Asn540Thr					CEP85L_ENST00000368488.5_Missense_Mutation_p.N543T	p.N540T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			8	2240	-			540					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1619A>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209342	0.22205	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.11063	2.81;2.81;2.81	5.24	1.19	0.21007	.	0.499399	0.23187	N	0.050944	T	0.01730	0.0055	N	0.19112	0.55	0.24195	N	0.995533	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.47598	-0.9105	10	0.22706	T	0.39	-9.2437	7.5187	0.27616	0.0:0.0717:0.2664:0.6619	.	543;540	F8W6J2;Q5SZL2	.;CF204_HUMAN	T	540;543;543	ENSP00000357477:N540T;ENSP00000357474:N543T;ENSP00000392131:N543T	ENSP00000357474:N543T	N	-	2	0	C6orf204	118909761	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	1.023000	0.30065	0.380000	0.24823	0.459000	0.35465	AAT		0.303	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		18	62	0	0	0	1	0	18	62					G	118803068	T	G	118803068	3	3	79	1	0	0	0	0	1	0	0	0	2360	1493	52	4	822	4	C6orf204	6	118803068	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	327295	118803068	52311999	7793	18110											
C6orf204	387119	broad.mit.edu	37	chr6	118803097	118803097	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttccagaatctgcagCtaaggagaaatgttttacag	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803097C>T	ENST00000368491.3	-	8	2212		c.e8-1		CEP85L_ENST00000368488.5_Splice_Site	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)											GAATCTGCAGCTAAGGAGAAA	0.313																																						ENST00000368491.3																			0											c.e8-1		centrosomal protein 85kDa-like							63	54	57					6																	118803097		1787	4059	5846	SO:0001630	splice_region_variant	387119					centrosome		g.chr6:118803097C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1591-1G>A	6.37:g.118803097C>T						CEP85L_ENST00000368488.5_Splice_Site		NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			8	2212	-								A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Splice_Site	SNP	ENST00000368491.3	37		CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276356	0.80580	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8033	0.92027	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf204	118909790	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.010000	0.70753	2.599000	0.87857	0.561000	0.74099	.		0.313	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	Intron	4	79	0	0	0	1	0	4	79					T	118803097	C	T	118803097	5	4	79	1	0	0	0	0	0	0	1	0	2360	811	28	2	851	2	C6orf204	6	118803097	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	118803097	52311970	7794	18111											
C6orf204	387119	broad.mit.edu	37	chr6	118886795	118886795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccttccaaaggatttGtccgcagctgctctgtaagc	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118886795G>A	ENST00000368491.3	-	3	1538	c.917C>T	c.(916-918)aCa>aTa	p.T306I	CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.T309I|CEP85L_ENST00000419517.2_Missense_Mutation_p.T306I|CEP85L_ENST00000368488.5_Missense_Mutation_p.T309I|CEP85L_ENST00000360290.3_Missense_Mutation_p.T204I	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	306						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAAAGGATTTGTCCGCAGCTG	0.448																																						ENST00000368491.3																			0											c.(916-918)aCa>aTa		centrosomal protein 85kDa-like							116	111	113					6																	118886795		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118886795G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.917C>T	6.37:g.118886795G>A	ENSP00000357477:p.Thr306Ile					CEP85L_ENST00000392500.3_Missense_Mutation_p.T309I|CEP85L_ENST00000419517.2_Missense_Mutation_p.T306I|CEP85L_ENST00000368488.5_Missense_Mutation_p.T309I|CEP85L_ENST00000360290.3_Missense_Mutation_p.T204I|CEP85L_ENST00000472713.1_5'UTR	p.T306I	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			3	1538	-			306					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.917C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347511	0.82022	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.23950	3.06;3.06;2.46;2.19;1.88;2.19	6.07	6.07	0.98685	.	0.198278	0.44483	D	0.000458	T	0.25195	0.0612	N	0.22421	0.69	0.40526	D	0.980881	D;D;D;D;D	0.59767	0.96;0.986;0.986;0.96;0.96	P;P;P;P;P	0.55391	0.711;0.775;0.775;0.663;0.663	T	0.01440	-1.1354	10	0.52906	T	0.07	-16.8619	20.6593	0.99626	0.0:0.0:1.0:0.0	.	204;309;306;309;306	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	I	306;309;309;309;204;306	ENSP00000357477:T306I;ENSP00000357474:T309I;ENSP00000392131:T309I;ENSP00000376288:T309I;ENSP00000353434:T204I;ENSP00000393317:T306I	ENSP00000353434:T204I	T	-	2	0	C6orf204	118993488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.053000	0.71089	2.885000	0.99019	0.655000	0.94253	ACA		0.448	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		74	354	0	0	0	1	0	74	354					A	118886795	G	A	118886795	3	1	79	1	0	0	0	0	1	0	0	0	2360	1377	48	2	1598	2	C6orf204	6	118886795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83698	118886795	52228272	7795	18112											
FAM184A	79632	broad.mit.edu	37	chr6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtggacagcttcaattgCcatatggtgcttccaagcta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000338891.7	-	5	1920	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	493						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1477-1479)Gca>Tca		family with sequence similarity 184, member A							134	125	127					6																	119337965		1824	4093	5917	SO:0001583	missense	79632							g.chr6:119337965C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1477G>T	6.37:g.119337965C>A	ENSP00000342604:p.Ala493Ser					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S	p.A493S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1920	-			493					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1477G>T	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611390|3.611390	0.66558|0.66558	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00333|.	8.07;8.07;8.07;8.07;8.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.172963|.	0.50627|.	D|.	0.000108|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.48362|0.48362	1.52|1.52	0.48236|0.48236	D|D	0.999613|0.999613	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.39692|.	T|.	0.17|.	-11.3991|-11.3991	18.6868|18.6868	0.91567|0.91567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;373;493|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|C	493;373;373;493;373|78	ENSP00000342604:A493S;ENSP00000326608:A373S;ENSP00000357460:A373S;ENSP00000430442:A493S;ENSP00000429826:A373S|.	ENSP00000342604:A493S|.	A|W	-|-	1|3	0|0	FAM184A|FAM184A	119379664|119379664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.163000|3.163000	0.50763|0.50763	2.433000|2.433000	0.82419|0.82419	0.491000|0.491000	0.48974|0.48974	GCA|TGG		0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		61	343	1	0	1.53716e-24	1	1.75837e-24	61	343					A	119337965	C	A	119337965	3	1	79	1	0	0	0	0	1	0	0	0	5532	739	26	3	2001	3	FAM184A	6	119337965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	451170	119337965	51777102	7796	18113											
FAM184A	79632	broad.mit.edu	37	chr6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatattcttgctgagttctCtttgcttcatttactttcta	4	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000338891.7	-	5	1793	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1348-1350)aaG>aaT		family with sequence similarity 184, member A							84	80	81					6																	119338092		1803	4066	5869	SO:0001583	missense	79632							g.chr6:119338092C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1350G>T	6.37:g.119338092C>A	ENSP00000342604:p.Lys450Asn					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N	p.K450N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1793	-			450					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1350G>T	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938062|1.938062	0.34189|0.34189	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00351|.	7.97;7.97;7.97;7.97;7.97|.	4.94|4.94	2.16|2.16	0.27623|0.27623	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.39627|0.39627	0.1085|0.1085	L|L	0.53249|0.53249	1.67|1.67	0.44635|0.44635	D|D	0.997614|0.997614	B;B;B|.	0.12630|.	0.003;0.006;0.003|.	B;B;B|.	0.12156|.	0.005;0.007;0.007|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.36615|.	T|.	0.2|.	-18.0805|-18.0805	5.6092|5.6092	0.17396|0.17396	0.1389:0.636:0.0:0.2251|0.1389:0.636:0.0:0.2251	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	N|I	450;330;330;450;330|36	ENSP00000342604:K450N;ENSP00000326608:K330N;ENSP00000357460:K330N;ENSP00000430442:K450N;ENSP00000429826:K330N|.	ENSP00000342604:K450N|.	K|R	-|-	3|2	2|0	FAM184A|FAM184A	119379791|119379791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	0.768000|0.768000	0.26590|0.26590	0.146000|0.146000	0.19002|0.19002	0.491000|0.491000	0.48974|0.48974	AAG|AGA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		44	202	1	0	1.76056e-25	1	2.02043e-25	44	202					A	119338092	C	A	119338092	3	1	79	1	0	0	0	0	1	0	0	0	5532	912	32	3	2128	3	FAM184A	6	119338092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	119338092	51776975	7797	18114											
C6orf170	221322	broad.mit.edu	37	chr6	121604969	121604969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacagaattacctgaaTgggcagctgatgtcatcttt	9	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121604969T>C	ENST00000398212.2	-	13	1509	c.1460A>G	c.(1459-1461)cAt>cGt	p.H487R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.H487R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	487					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTACCTGAATGGGCAGCTGA	0.313																																						ENST00000275159.6																			0											c.(1459-1461)cAt>cGt		TBC1 domain family, member 32							69	65	66					6																	121604969		1804	4075	5879	SO:0001583	missense	221322							g.chr6:121604969T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1460A>G	6.37:g.121604969T>C	ENSP00000381270:p.His487Arg					TBC1D32_ENST00000398212.2_Missense_Mutation_p.H487R	p.H487R							13	1459	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1460A>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	6.435	0.448458	0.12223	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.17691	2.26;2.26	5.1	-0.847	0.10730	.	0.561075	0.17360	N	0.177078	T	0.04588	0.0125	L	0.56769	1.78	0.09310	N	1	B;B	0.29432	0.095;0.244	B;B	0.27608	0.037;0.081	T	0.37798	-0.9690	10	0.25106	T	0.35	-18.8646	5.5271	0.16964	0.0:0.1474:0.2708:0.5818	.	487;487	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	487	ENSP00000275159:H487R;ENSP00000381270:H487R	ENSP00000275159:H487R	H	-	2	0	C6orf170	121646668	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.518000	0.22847	-0.043000	0.13513	0.459000	0.35465	CAT		0.313	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		10	221	0	0	0	1	0	10	221					C	121604969	T	C	121604969	3	2	79	1	0	0	0	0	1	0	0	0	2351	1464	51	4	2393	4	C6orf170	6	121604969	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2266877	121604969	49510098	7798	18115											
C6orf170	221322	broad.mit.edu	37	chr6	121624817	121624817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actaatgcaaaaaagtagatCggatccaaaatcttttgtga	7	6	1	2	rs374800522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121624817C>T	ENST00000398212.2	-	9	1075	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TBC1D32_ENST00000275159.6_Silent_p.P342P	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	342					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P342P(2)									AAAAGTAGATCGGATCCAAAA	0.323																																						ENST00000275159.6																			2	Substitution - coding silent(2)	p.P342P(2)	large_intestine(1)|pancreas(1)								c.(1024-1026)ccG>ccA		TBC1 domain family, member 32							95	87	90					6																	121624817		1810	4074	5884	SO:0001819	synonymous_variant	221322							g.chr6:121624817C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1026G>A	6.37:g.121624817C>T						TBC1D32_ENST00000398212.2_Silent_p.P342P	p.P342P							9	1025	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.1026G>A	CCDS43501.1																																																																																				0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		34	123	0	0	0	1	0	34	123					T	121624817	C	T	121624817	2	4	79	1	0	0	0	0	0	0	0	1	2351	871	31	1		1	C6orf170	6	121624817	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19848	121624817	49490250	7799	18116											
HSF2	3298	broad.mit.edu	37	chr6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttatccagtataccgCctttccacttcttgcattcc	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000368455.4	+	13	1532	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	447					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413																																						ENST00000452194.1																			0				large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1285-1287)gCc>gTc		heat shock transcription factor 2							117	120	119					6																	122753094		2203	4300	6503	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122753094C>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1340C>T	6.37:g.122753094C>T	ENSP00000357440:p.Ala447Val					HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.A447V	p.A429V	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	12	1473	+			447					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.1286C>T	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.46	5.46	0.80206	Vertebrate heat shock transcription factor (1);	0.246309	0.43919	D	0.000511	T	0.50051	0.1593	M	0.64404	1.975	0.45791	D	0.998672	B;P	0.46578	0.314;0.88	B;B	0.40636	0.044;0.335	T	0.61247	-0.7101	9	0.87932	D	0	-10.8781	19.2991	0.94136	0.0:1.0:0.0:0.0	.	429;447	Q03933-2;Q03933	.;HSF2_HUMAN	V	447;429	.	ENSP00000357440:A447V	A	+	2	0	HSF2	122794793	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	GCC		0.413	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		94	615	0	0	0	1	0	94	615					T	122753094	C	T	122753094	3	4	79	1	0	0	0	0	1	0	0	0	7426	739	26	2	1390	2	HSF2	6	122753094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1128277	122753094	48361973	7800	18117											
PKIB	5570	broad.mit.edu	37	chr6	123046319	123046319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagaccaattggaaaaGcctcaaaatgaagaaaaatg	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000368448.1	+	6	843	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	72							cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294																																						ENST00000392490.1																			0				large_intestine(3)|lung(1)	4						c.(214-216)aaG>aaA		protein kinase (cAMP-dependent, catalytic) inhibitor beta							93	86	89					6																	123046319		2202	4300	6502	SO:0001819	synonymous_variant	0						cAMP-dependent protein kinase inhibitor activity	g.chr6:123046319G>A		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.216G>A	6.37:g.123046319G>A						PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000368448.1_Silent_p.K72K	p.K72K	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN		GBM - Glioblastoma multiforme(226;0.164)	4	613	+			72					B2RCK2|Q567T9|Q5T0Z7	Silent	SNP	ENST00000368448.1	37	c.216G>A	CCDS5126.1																																																																																				0.294	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1			13	59	0	0	0	1	0	13	59					A	123046319	G	A	123046319	2	1	79	1	0	0	0	0	0	0	0	1	12016	962	34	2		2	PKIB	6	123046319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293225	123046319	48068748	7801	18118											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaattctttgtttgtgGctcctgctgttacaccagtg	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	316					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318																																						ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(946-948)Gct>Act		sphingomyelin phosphodiesterase, acid-like 3A							111	110	110					6																	123127404		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127404G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.946G>A	6.37:g.123127404G>A	ENSP00000357425:p.Ala316Thr					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	p.A316T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1123	+			316					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.946G>A	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337335	0.11013	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86865	-2.18;-2.18	5.76	4.87	0.63330	.	0.299636	0.38663	N	0.001612	T	0.66056	0.2751	L	0.28192	0.835	0.47994	D	0.999561	B	0.22080	0.064	B	0.15870	0.014	T	0.64980	-0.6279	10	0.30854	T	0.27	-13.8831	9.4081	0.38473	0.0719:0.0:0.7831:0.1449	.	316	Q92484	ASM3A_HUMAN	T	316;185	ENSP00000357425:A316T;ENSP00000442152:A185T	ENSP00000357425:A316T	A	+	1	0	SMPDL3A	123169103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	1.533000	0.49186	0.655000	0.94253	GCT		0.318	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		35	215	0	0	0	1	0	35	215					A	123127404	G	A	123127404	3	1	79	1	0	0	0	0	1	0	0	0	14858	1203	42	2	972	2	SMPDL3A	6	123127404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81085	123127404	47987663	7802	18119											
HEY2	23493	broad.mit.edu	37	chr6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctgctccagcccaacGgcctccatgcctcagagtca	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	201					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCAGCCCAACGGCCTCCATGC	0.657																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(601-603)Ggc>Agc		hes-related family bHLH transcription factor with YRPW motif 2							120	123	122					6																	126080535		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080535G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.601G>A	6.37:g.126080535G>A	ENSP00000357348:p.Gly201Ser					HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	p.G201S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	798	+			201						Missense_Mutation	SNP	ENST00000368364.3	37	c.601G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682158	0.29872	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57752	0.39;0.38	5.59	5.59	0.84812	.	0.710025	0.13163	N	0.408932	T	0.51975	0.1706	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.07175	T	0.84	-17.0872	19.5876	0.95496	0.0:0.0:1.0:0.0	.	201	Q9UBP5	HEY2_HUMAN	S	155;201	ENSP00000357349:G155S;ENSP00000357348:G201S	ENSP00000357348:G201S	G	+	1	0	HEY2	126122228	.	.	0.998000	0.56505	0.608000	0.37181	.	.	2.625000	0.88918	0.561000	0.74099	GGC		0.657	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			254	1243	0	0	0	1	0	254	1243					A	126080535	G	A	126080535	3	1	79	1	0	0	0	0	1	0	0	0	7109	1116	39	1	619	1	HEY2	6	126080535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2953131	126080535	45034532	7803	18120											
TRMT11	60487	broad.mit.edu	37	chr6	126319743	126319743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgaatttaaagaaaccGcaacatgtattttctgtttt	6	5	1	2	rs186317882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	145					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.P145P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TAAAGAAACCGCAACATGTAT	0.318																																						ENST00000334379.5																			1	Substitution - coding silent(1)	p.P145P(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(433-435)ccG>ccA		tRNA methyltransferase 11 homolog (S. cerevisiae)							93	93	93					6																	126319743		2203	4300	6503	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319743G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.435G>A	6.37:g.126319743G>A						TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	6	556	+			145					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.435G>A	CCDS35496.1																																																																																				0.318	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		8	374	0	0	0	1	0	8	374					A	126319743	G	A	126319743	2	1	79	1	0	0	0	0	0	0	0	1	16615	1074	38	1		1	TRMT11	6	126319743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239208	126319743	44795324	7804	18121											
TRMT11	60487	broad.mit.edu	37	chr6	126332478	126332478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcgtcaatatggtttagaGaagtattaccttgatgtcct	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000334379.5	+	9	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000368332.3_Silent_p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	280					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGTTTAGAGAAGTATTACC	0.388																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(838-840)gaG>gaA		tRNA methyltransferase 11 homolog (S. cerevisiae)							109	86	94					6																	126332478		2203	4300	6503	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126332478G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.840G>A	6.37:g.126332478G>A						TRMT11_ENST00000368332.3_Silent_p.E280E	p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	9	961	+			280					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.840G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897034	0.17686	.	.	ENSG00000066651	ENST00000453993	T	0.45276	0.9	5.62	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05616	-1.0874	7	0.07644	T	0.81	-16.5083	7.9756	0.30153	0.3331:0.0:0.6669:0.0	.	.	.	.	K	79	ENSP00000410498:E79K	ENSP00000410498:E79K	E	+	1	0	TRMT11	126374171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.393000	0.46605	-0.137000	0.14449	GAA		0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		37	137	0	0	0	1	0	37	137					A	126332478	G	A	126332478	2	1	79	1	0	0	0	0	0	0	0	1	16615	933	33	2		2	TRMT11	6	126332478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	126332478	44782589	7805	18122											
TRMT11	60487	broad.mit.edu	37	chr6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagtcacacatcaaggCgcttgatcacaatggaaaag	8	10	3	1	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000334379.5	+	12	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CACATCAAGGCGCTTGATCAC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20119	0.001		0.0	False		,,,				2504	0.0					ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1225-1227)Cgc>Tgc		tRNA methyltransferase 11 homolog (S. cerevisiae)		C	CYS/ARG	0,4406		0,0,2203	81	78	79		1225	5.7	1	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRMT11	NM_001031712.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	409/464	126342391	1,13005	2203	4300	6503	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126342391C>T	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1225C>T	6.37:g.126342391C>T	ENSP00000333934:p.Arg409Cys					TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	12	1346	+			409					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.1225C>T	CCDS35496.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.8	4.340821	0.81911	0.0	1.16E-4	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.877	T	0.72827	-0.4175	10	0.54805	T	0.06	-1.4668	13.9605	0.64175	0.0:0.9274:0.0:0.0726	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	C	409	ENSP00000333934:R409C;ENSP00000357316:R409C	ENSP00000333934:R409C	R	+	1	0	TRMT11	126384084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.745000	0.62125	2.669000	0.90835	0.585000	0.79938	CGC		0.403	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		24	306	0	0	0	1	0	24	306					T	126342391	C	T	126342391	3	4	79	1	0	0	0	0	1	0	0	0	16615	768	27	1	1271	1	TRMT11	6	126342391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9913	126342391	44772676	7806	18123											
CENPW	387103	broad.mit.edu	37	chr6	126661536	126661536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtctggagaaaagtggTgacttattggtgagattcca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368326.1_Silent_p.G39G|CENPW_ENST00000368325.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W	39					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517																																						ENST00000368328.4																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(115-117)ggT>ggC		centromere protein W							81	77	79					6																	126661536		2203	4300	6503	SO:0001819	synonymous_variant	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661536T>C	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.117T>C	6.37:g.126661536T>C						CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G	p.G39G			Q5EE01	CENPW_HUMAN			1	217	+			39					A6NIR0|A6NJC2	Silent	SNP	ENST00000368328.4	37	c.117T>C	CCDS34529.1																																																																																				0.517	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			63	281	0	0	0	1	0	63	281					C	126661536	T	C	126661536	2	2	79	1	0	0	0	0	0	0	0	1	3253	1683	59	4		4	CENPW	6	126661536	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	319145	126661536	44453531	7807	18124											
RSPO3	84870	broad.mit.edu	37	chr6	127440424	127440424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcctcccggggaaggcgCcagcgaagaagtaagtgcag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	29					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(85-87)cgC>cgT		R-spondin 3							154	168	163					6																	127440424		2203	4300	6503	SO:0001819	synonymous_variant	84870					extracellular region	heparin binding	g.chr6:127440424C>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.87C>T	6.37:g.127440424C>T						RSPO3_ENST00000368317.3_Silent_p.R29R	p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	1	676	+			29					B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	37	c.87C>T	CCDS5135.1																																																																																				0.532	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		79	494	0	0	0	1	0	79	494					T	127440424	C	T	127440424	2	4	79	1	0	0	0	0	0	0	0	1	13761	726	26	2		2	RSPO3	6	127440424	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	778888	127440424	43674643	7808	18125											
RSPO3	84870	broad.mit.edu	37	chr6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtccgagaaataatacaGcatccttcagcaaagggtaa	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	181	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(541-543)caG>caT		R-spondin 3							140	129	132					6																	127476492		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127476492G>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.543G>T	6.37:g.127476492G>T	ENSP00000349131:p.Gln181His					RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	1132	+			181			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.543G>T	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016045	0.54468	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.81659	-1.52;-1.52	5.7	2.14	0.27477	.	0.051847	0.85682	D	0.000000	T	0.77458	0.4133	L	0.45470	1.425	0.44330	D	0.997217	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.74396	-0.3679	10	0.30854	T	0.27	-26.4136	9.0582	0.36419	0.4722:0.0:0.5278:0.0	.	181;181	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	181	ENSP00000349131:Q181H;ENSP00000357300:Q181H	ENSP00000349131:Q181H	Q	+	3	2	RSPO3	127518185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.589000	0.29677	0.557000	0.71058	CAG		0.463	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		75	352	1	0	1.26778e-28	1	1.47706e-28	75	352					T	127476492	G	T	127476492	3	4	79	1	0	0	0	0	1	0	0	0	13761	962	34	3	557	3	RSPO3	6	127476492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36068	127476492	43638575	7809	18126											
RNF146	81847	broad.mit.edu	37	chr6	127608109	127608109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgggtggtggcagtaCgatgagcgcactagtagaga	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Silent_p.Y117Y	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	117	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(349-351)taC>taT		ring finger protein 146							99	89	92					6																	127608109		2203	4300	6503	SO:0001819	synonymous_variant	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608109C>T	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.351C>T	6.37:g.127608109C>T						RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_Silent_p.Y116Y	p.Y117Y	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	775	+			117			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	c.351C>T	CCDS56449.1																																																																																				0.423	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		90	403	0	0	0	1	0	90	403					T	127608109	C	T	127608109	2	4	79	1	0	0	0	0	0	0	0	1	13498	547	19	1		1	RNF146	6	127608109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131617	127608109	43506958	7810	18127											
RNF146	81847	broad.mit.edu	37	chr6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcgatcgggaactgatcGatcagtagcagggggtggaa	16	6	1	2	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(997-999)cGa>cAa		ring finger protein 146							74	72	73					6																	127608756		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608756G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.998G>A	6.37:g.127608756G>A	ENSP00000357297:p.Arg333Gln					RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_Missense_Mutation_p.R332Q	p.R333Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	1422	+			333					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.998G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066358	0.07273	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25579	1.79;1.79;1.79	4.61	-0.595	0.11660	.	1.108200	0.07123	N	0.844185	T	0.04770	0.0129	N	0.21448	0.665	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.56958	D	0.05	0.0803	1.6901	0.02850	0.1802:0.3044:0.3591:0.1563	.	333	Q9NTX7	RN146_HUMAN	Q	333;332;332	ENSP00000357297:R333Q;ENSP00000349253:R332Q;ENSP00000309365:R332Q	ENSP00000309365:R332Q	R	+	2	0	RNF146	127650449	0.993000	0.37304	0.007000	0.13788	0.162000	0.22319	1.915000	0.39976	-0.231000	0.09825	0.585000	0.79938	CGA		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		61	293	0	0	0	1	0	61	293					A	127608756	G	A	127608756	3	1	79	1	0	0	0	0	1	0	0	0	13498	1058	37	1	997	1	RNF146	6	127608756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	127608756	43506311	7811	18128											
ECHDC1	55862	broad.mit.edu	37	chr6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttcctaaaagatctctttCgttctgtaatgcttcctcca	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	282						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(844-846)Gaa>Aaa		enoyl CoA hydratase domain containing 1							108	102	104					6																	127611094		1818	4075	5893	SO:0001583	missense	55862						catalytic activity	g.chr6:127611094C>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.844G>A	6.37:g.127611094C>T	ENSP00000436585:p.Glu282Lys					ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR	p.E282K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	1347	-			282					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.844G>A	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870546	0.91587	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.22	4.36	0.52297	.	0.045054	0.85682	N	0.000000	D	0.86952	0.6057	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89839	0.4001	10	0.87932	D	0	-3.0695	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	282	Q9NTX5	ECHD1_HUMAN	K	276;282;276;201;259;276	ENSP00000401751:E276K;ENSP00000436585:E282K;ENSP00000434908:E276K;ENSP00000404866:E201K;ENSP00000311115:E259K;ENSP00000402492:E276K	ENSP00000311115:E259K	E	-	1	0	ECHDC1	127652787	1.000000	0.71417	0.727000	0.30756	0.953000	0.61014	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	GAA		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			131	539	0	0	0	1	0	131	539					T	127611094	C	T	127611094	3	4	79	1	0	0	0	0	1	0	0	0	4909	893	31	1	83	1	ECHDC1	6	127611094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2338	127611094	43503973	7812	18129											
KIAA0408	9729	broad.mit.edu	37	chr6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagggggtgcagatggagatCtggatgcccatctggagggg	19	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	668										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATGGAGATCTGGATGCCCA	0.517																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(2002-2004)aGa>aTa		KIAA0408							131	106	115					6																	127765336		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127765336C>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.2003G>T	6.37:g.127765336C>A	ENSP00000435150:p.Arg668Ile					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.R668I	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	6	2339	-			668					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.2003G>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999775	0.93227	.	.	ENSG00000189367	ENST00000483725	T	0.22336	1.96	6.07	6.07	0.98685	.	0.000000	0.39341	U	0.001396	T	0.41213	0.1149	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	0.13791	-1.0496	10	0.87932	D	0	-8.9135	20.6525	0.99598	0.0:1.0:0.0:0.0	.	668;551	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	I	668	ENSP00000435150:R668I	ENSP00000435150:R668I	R	-	2	0	KIAA0408	127807029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.269000	0.72558	2.890000	0.99128	0.585000	0.79938	AGA		0.517	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		47	183	1	0	2.46787e-29	1	2.8822e-29	47	183					A	127765336	C	A	127765336	3	1	79	1	0	0	0	0	1	0	0	0	8204	913	32	3	85	3	KIAA0408	6	127765336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154242	127765336	43349731	7813	18130											
KIAA0408	9729	broad.mit.edu	37	chr6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttactgtactgagggcgCcagaacagctcttgctgtct	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	162										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGAGGGCGCCAGAACAGCT	0.433																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(484-486)gGc>gTc		KIAA0408							86	83	84					6																	127771148		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127771148C>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.485G>T	6.37:g.127771148C>A	ENSP00000435150:p.Gly162Val					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.G162V	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	821	-			162					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.485G>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941767	0.18281	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.44083	1.51;0.93	5.71	2.4	0.29515	.	0.663988	0.11713	N	0.536664	T	0.14527	0.0351	L	0.39633	1.23	0.20074	N	0.999935	B	0.32203	0.36	B	0.32022	0.139	T	0.16012	-1.0417	10	0.39692	T	0.17	-0.3259	6.567	0.22517	0.2803:0.5805:0.0:0.1392	.	162	Q6ZU52	K0408_HUMAN	V	162;174	ENSP00000435150:G162V;ENSP00000434384:G174V	ENSP00000435150:G162V	G	-	2	0	KIAA0408	127812841	0.089000	0.21612	0.171000	0.22900	0.851000	0.48451	1.112000	0.31172	0.693000	0.31634	0.655000	0.94253	GGC		0.433	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		84	361	1	0	1.75807e-36	1	2.10477e-36	84	361					A	127771148	C	A	127771148	3	1	79	1	0	0	0	0	1	0	0	0	8204	739	26	3	1615	3	KIAA0408	6	127771148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	127771148	43343919	7814	18131											
KIAA0408	9729	broad.mit.edu	37	chr6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaccctacttttgattTttttgttgctttttgttcct	4	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTTTTGATTTTTTTGTTGCT	0.418																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(379-381)Aaa>Taa		KIAA0408							144	136	139					6																	127771254		2203	4300	6503	SO:0001587	stop_gained	9729						protein binding	g.chr6:127771254T>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.379A>T	6.37:g.127771254T>A	ENSP00000435150:p.Lys127*					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.K127*	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	715	-			127					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Nonsense_Mutation	SNP	ENST00000483725.3	37	c.379A>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134437	0.94517	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.18	2.82	0.32997	.	0.161017	0.28031	U	0.016865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4347	7.355	0.26714	0.0:0.2632:0.0:0.7368	.	.	.	.	X	127;139	.	ENSP00000435150:K127X	K	-	1	0	KIAA0408	127812947	0.003000	0.15002	0.002000	0.10522	0.735000	0.41995	1.154000	0.31688	0.448000	0.26722	0.533000	0.62120	AAA		0.418	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		134	563	0	0	0	1	0	134	563					A	127771254	T	A	127771254	4	1	79	1	0	0	0	0	0	1	0	0	8204	1850	64	5	1721	5	KIAA0408	6	127771254	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106	127771254	43343813	7815	18132											
C6orf174	387104	broad.mit.edu	37	chr6	127796553	127796553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatctgagcgttgatgCggtagagcagctcgtgctcc	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796553C>T	ENST00000525778.1	-	6	3363	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	SOGA3_ENST00000481848.2_Missense_Mutation_p.R873H|SOGA3_ENST00000556132.1_Missense_Mutation_p.R873H|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.R873H|SOGA3_ENST00000368268.2_Missense_Mutation_p.R873H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	873					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGCGTTGATGCGGTAGAGCAG	0.662																																						ENST00000556132.1																			0											c.(2617-2619)cGc>cAc		SOGA family member 3							61	70	67					6																	127796553		2167	4255	6422	SO:0001583	missense	387104					integral to membrane		g.chr6:127796553C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2618G>A	6.37:g.127796553C>T	ENSP00000434570:p.Arg873His					SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.R873H|SOGA3_ENST00000525778.1_Missense_Mutation_p.R873H|SOGA3_ENST00000368268.2_Missense_Mutation_p.R873H|SOGA3_ENST00000481848.2_Missense_Mutation_p.R873H	p.R873H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3482	-			873						Missense_Mutation	SNP	ENST00000525778.1	37	c.2618G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490278	0.84962	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	P	0.58210	0.835	T	0.10870	-1.0611	10	0.56958	D	0.05	-13.2736	19.9031	0.96996	0.0:1.0:0.0:0.0	.	873	Q5TF21	CF174_HUMAN	H	873	ENSP00000451768:R873H;ENSP00000357251:R873H;ENSP00000434570:R873H;ENSP00000435559:R873H	ENSP00000435559:R873H	R	-	2	0	C6orf174	127838246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.044000	0.71012	2.710000	0.92621	0.561000	0.74099	CGC		0.662	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		92	484	0	0	0	1	0	92	484					T	127796553	C	T	127796553	3	4	79	1	0	0	0	0	1	0	0	0	2352	768	27	1	233	1	C6orf174	6	127796553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25299	127796553	43318514	7816	18133											
C6orf174	387104	broad.mit.edu	37	chr6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctctccttcttgcccgCgtcgctctcggcgtcgctgt	11	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796902C>T	ENST00000525778.1	-	6	3014	c.2269G>A	c.(2269-2271)Gcg>Acg	p.A757T	SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757T|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTCTTGCCCGCGTCGCTCTCG	0.697																																						ENST00000556132.1																			0											c.(2269-2271)Gcg>Acg		SOGA family member 3							39	46	44					6																	127796902		2129	4230	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796902C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2269G>A	6.37:g.127796902C>T	ENSP00000434570:p.Ala757Thr					SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T	p.A757T	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3133	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2269G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066637	0.55539	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	4.41	0.53225	.	0.285709	0.38005	N	0.001858	T	0.12390	0.0301	L	0.33245	0.995	0.48762	D	0.999704	B	0.30236	0.274	B	0.28232	0.087	T	0.03795	-1.1003	10	0.41790	T	0.15	-8.9632	13.665	0.62389	0.0:0.9257:0.0:0.0743	.	757	Q5TF21	CF174_HUMAN	T	757	ENSP00000451768:A757T;ENSP00000357251:A757T;ENSP00000434570:A757T;ENSP00000435559:A757T	ENSP00000435559:A757T	A	-	1	0	C6orf174	127838595	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	3.092000	0.50207	1.234000	0.43709	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		121	498	0	0	0	1	0	121	498					T	127796902	C	T	127796902	3	4	79	1	0	0	0	0	1	0	0	0	2352	768	27	1	582	1	C6orf174	6	127796902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349	127796902	43318165	7817	18134											
C6orf174	387104	broad.mit.edu	37	chr6	127834117	127834117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcctcagtttctcattTtcatcttctgttgttgttct	6	9	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127834117T>G	ENST00000525778.1	-	4	2149	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SOGA3_ENST00000481848.2_Missense_Mutation_p.E468D|SOGA3_ENST00000556132.1_Missense_Mutation_p.E468D|SOGA3_ENST00000465909.2_Missense_Mutation_p.E468D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E468D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	468					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GTTTCTCATTTTCATCTTCTG	0.338																																						ENST00000556132.1																			0											c.(1402-1404)gaA>gaC		SOGA family member 3							161	142	148					6																	127834117		1835	4092	5927	SO:0001583	missense	387104					integral to membrane		g.chr6:127834117T>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1404A>C	6.37:g.127834117T>G	ENSP00000434570:p.Glu468Asp					SOGA3_ENST00000465909.2_Missense_Mutation_p.E468D|SOGA3_ENST00000525778.1_Missense_Mutation_p.E468D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E468D|SOGA3_ENST00000481848.2_Missense_Mutation_p.E468D	p.E468D	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			4	2268	-			468						Missense_Mutation	SNP	ENST00000525778.1	37	c.1404A>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692364	0.88735	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.64260	1.97	0.54753	D	0.999985	P	0.36990	0.577	B	0.37091	0.241	T	0.22382	-1.0218	10	0.48119	T	0.1	-15.0245	15.9355	0.79704	0.0:0.0:0.0:1.0	.	468	Q5TF21	CF174_HUMAN	D	468	ENSP00000451768:E468D;ENSP00000357251:E468D;ENSP00000434570:E468D;ENSP00000435559:E468D	ENSP00000435559:E468D	E	-	3	2	C6orf174	127875810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.023000	0.70848	2.234000	0.73211	0.533000	0.62120	GAA		0.338	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		17	84	0	0	0	1	0	17	84					G	127834117	T	G	127834117	3	3	79	1	0	0	0	0	1	0	0	0	2352	1838	64	4	1455	4	C6orf174	6	127834117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37215	127834117	43280950	7818	18135											
C6orf58	352999	broad.mit.edu	37	chr6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtggaaggagagtcCtggtcagctcagtgactaca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	37						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(109-111)cCt>cAt		chromosome 6 open reading frame 58							120	126	124					6																	127898440		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127898440C>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.110C>A	6.37:g.127898440C>A	ENSP00000328069:p.Pro37His					C6orf58_ENST00000498112.1_Intron	p.P37H	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	1	122	+			37					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.110C>A	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747510	0.69533	.	.	ENSG00000184530	ENST00000329722	T	0.52983	0.64	5.24	4.37	0.52481	.	0.255048	0.39083	N	0.001480	T	0.61788	0.2375	M	0.83012	2.62	0.37613	D	0.920992	D	0.89917	1.0	D	0.80764	0.994	T	0.70865	-0.4756	10	0.87932	D	0	-17.8447	12.7508	0.57308	0.0:0.9185:0.0:0.0815	.	37	Q6P5S2	CF058_HUMAN	H	37	ENSP00000328069:P37H	ENSP00000328069:P37H	P	+	2	0	C6orf58	127940133	0.503000	0.26115	0.704000	0.30370	0.959000	0.62525	1.480000	0.35464	1.216000	0.43427	0.655000	0.94253	CCT		0.463	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		90	467	1	0	1.38319e-45	1	1.69661e-45	90	467					A	127898440	C	A	127898440	3	1	79	1	0	0	0	0	1	0	0	0	2374	681	24	3	112	3	C6orf58	6	127898440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64323	127898440	43216627	7819	18136											
THEMIS	387357	broad.mit.edu	37	chr6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatattcaagcggcccacaGgaatttcccagcactccgtg	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368248.2	-	4	1662	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000368250.1_Missense_Mutation_p.P426L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	505	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCGGCCCACAGGAATTTCCCA	0.478																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1276-1278)cCt>cTt		thymocyte selection associated							70	70	70					6																	128134272		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134272G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1514C>T	6.37:g.128134272G>A	ENSP00000357231:p.Pro505Leu					THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P505L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L	p.P426L			Q8N1K5	THMS1_HUMAN			5	1775	-			505			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1277C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384593	0.61845	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63427	-0.6640	10	0.87932	D	0	-14.1489	16.9552	0.86257	0.0:0.1277:0.8723:0.0	.	505;505	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	426;505;505;470	ENSP00000357233:P426L;ENSP00000439594:P505L;ENSP00000357231:P505L;ENSP00000439863:P470L	ENSP00000357231:P505L	P	-	2	0	THEMIS	128175965	1.000000	0.71417	0.900000	0.35374	0.978000	0.69477	7.842000	0.86851	1.459000	0.47892	0.563000	0.77884	CCT		0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		59	326	0	0	0	1	0	59	326					A	128134272	G	A	128134272	3	1	79	1	0	0	0	0	1	0	0	0	15912	1000	35	2	544	2	THEMIS	6	128134272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235832	128134272	42980795	7820	18137											
THEMIS	387357	broad.mit.edu	37	chr6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaactccctcggtcgccGcttgaacttgcctttatagc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(793-795)Cgg>Tgg		thymocyte selection associated							85	89	88					6																	128134756		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134756G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1030C>T	6.37:g.128134756G>A	ENSP00000357231:p.Arg344Trp					THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368248.2_Missense_Mutation_p.R344W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W	p.R265W			Q8N1K5	THMS1_HUMAN			5	1291	-			344			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.793C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		100	399	0	0	0	1	0	100	399					A	128134756	G	A	128134756	3	1	79	1	0	0	0	0	1	0	0	0	15912	1086	38	1	1028	1	THEMIS	6	128134756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484	128134756	42980311	7821	18138											
THEMIS	387357	broad.mit.edu	37	chr6	128176327	128176327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttccaaacatttcataaAtagagcctaaaaggaaagaa	5	7	1	2	rs141623918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128176327A>C	ENST00000368248.2	-	2	246	c.98T>G	c.(97-99)aTt>aGt	p.I33S	THEMIS_ENST00000543064.1_Missense_Mutation_p.I33S|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	33	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATTTCATAAATAGAGCCTAA	0.289																																						ENST00000543064.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(97-99)aTt>aGt		thymocyte selection associated							37	37	37					6																	128176327		2201	4299	6500	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176327A>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.98T>G	6.37:g.128176327A>C	ENSP00000357231:p.Ile33Ser					THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.I33S|THEMIS_ENST00000537166.1_5'UTR	p.I33S	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN			2	246	-			33			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.98T>G	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474656	0.63737	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.11604	2.76;2.76	5.73	4.57	0.56435	.	0.585491	0.17487	N	0.172463	T	0.10895	0.0266	M	0.72894	2.215	0.80722	D	1	D;B	0.57571	0.98;0.379	P;B	0.48270	0.572;0.343	T	0.01725	-1.1287	10	0.87932	D	0	-1.9501	11.4026	0.49878	0.9295:0.0:0.0705:0.0	.	33;33	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	33	ENSP00000439594:I33S;ENSP00000357231:I33S	ENSP00000357231:I33S	I	-	2	0	THEMIS	128218020	0.996000	0.38824	0.696000	0.30242	0.873000	0.50193	4.017000	0.57167	0.995000	0.38917	0.528000	0.53228	ATT		0.289	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		22	105	0	0	0	1	0	22	105					C	128176327	A	C	128176327	3	2	79	1	0	0	0	0	1	0	0	0	15912	101	4	4	1968	4	THEMIS	6	128176327	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41571	128176327	42938740	7822	18139											
PTPRK	5796	broad.mit.edu	37	chr6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaactcggatctcatattCggtatctggatctaaatgcc	8	9	3	1	rs369678964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1072-1074)Gaa>Aaa		protein tyrosine phosphatase, receptor type, K		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170	155	160		1072,1072	5.5	1	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128505667C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1072G>A	6.37:g.128505667C>T	ENSP00000357198:p.Glu358Lys					PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K	p.E358K			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	7	1438	-			358			Fibronectin type-III 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1072G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA		0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			124	589	0	0	0	1	0	124	589					T	128505667	C	T	128505667	3	4	79	1	0	0	0	0	1	0	0	0	12855	893	31	1	3368	1	PTPRK	6	128505667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329340	128505667	42609400	7823	18140											
LAMA2	3908	broad.mit.edu	37	chr6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctaatgctcttatcaCgaccaatgcaacatgtggag	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTCTTATCACGACCAATGCA	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(157-159)aCg>aTg		laminin, alpha 2							195	174	181					6																	129371108		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371108C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.158C>T	6.37:g.129371108C>T	ENSP00000400365:p.Thr53Met						p.T53M	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	207	+			53			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.158C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942453	0.73672	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76316	-1.01	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.234157	0.36815	N	0.002397	T	0.82254	0.4997	L	0.42581	1.335	0.44834	D	0.997846	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	D	0.83824	0.0248	10	0.72032	D	0.01	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	53;53	A6NF00;P24043	.;LAMA2_HUMAN	M	53	ENSP00000400365:T53M	ENSP00000346769:T53M	T	+	2	0	LAMA2	129412801	0.977000	0.34250	0.999000	0.59377	0.933000	0.57130	2.192000	0.42649	2.552000	0.86080	0.561000	0.74099	ACG		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			15	404	0	0	0	1	0	15	404					T	129371108	C	T	129371108	3	4	79	1	0	0	0	0	1	0	0	0	8637	536	19	1	164	1	LAMA2	6	129371108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865441	129371108	41743959	7824	18141											
LAMA2	3908	broad.mit.edu	37	chr6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcttcaatttgcaagagGataattggaaaggctgcgat	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	510	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGCAAGAGGATAATTGGAA	0.433																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1528-1530)Gat>Aat		laminin, alpha 2							131	129	129					6																	129511410		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129511410G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1528G>A	6.37:g.129511410G>A	ENSP00000400365:p.Asp510Asn						p.D510N	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	11	1577	+			510			Laminin EGF-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1528G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023845	0.19433	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.79	2.64	0.31445	EGF-like, laminin (4);	0.619591	0.16364	N	0.217639	T	0.13756	0.0333	N	0.04805	-0.155	0.27801	N	0.942499	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.28267	-1.0049	10	0.13108	T	0.6	.	11.4699	0.50261	0.2851:0.0:0.7149:0.0	.	510;510	A6NF00;P24043	.;LAMA2_HUMAN	N	510	ENSP00000400365:D510N	ENSP00000346769:D510N	D	+	1	0	LAMA2	129553103	1.000000	0.71417	0.906000	0.35671	0.980000	0.70556	1.345000	0.33953	0.805000	0.34159	-0.136000	0.14681	GAT		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			46	242	0	0	0	1	0	46	242					A	129511410	G	A	129511410	3	1	79	1	0	0	0	0	1	0	0	0	8637	1174	41	2	1570	2	LAMA2	6	129511410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	129511410	41603657	7825	18142											
LAMA2	3908	broad.mit.edu	37	chr6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtcaaactggacagTgtgagtgcagagccaacgtt	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	937	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGGACAGTGTGAGTGCAG	0.468																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2809-2811)Tgt>Ggt		laminin, alpha 2							103	89	94					6																	129612818		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129612818T>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2809T>G	6.37:g.129612818T>G	ENSP00000400365:p.Cys937Gly						p.C937G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	20	2858	+			937			Laminin EGF-like 9.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2809T>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158311	0.57368	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.56	5.56	0.83823	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	937;937	A6NF00;P24043	.;LAMA2_HUMAN	G	937	ENSP00000400365:C937G	ENSP00000346769:C937G	C	+	1	0	LAMA2	129654511	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.696000	0.84270	2.241000	0.73720	0.482000	0.46254	TGT		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			33	125	0	0	0	1	0	33	125					G	129612818	T	G	129612818	3	3	79	1	0	0	0	0	1	0	0	0	8637	1696	59	4	2887	4	LAMA2	6	129612818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101408	129612818	41502249	7826	18143											
LAMA2	3908	broad.mit.edu	37	chr6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaatgtgaccgctgtgCccacggctatttcaacttcc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1000	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCGCTGTGCCCACGGCTAT	0.453																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2998-3000)gCc>gTc		laminin, alpha 2							68	63	65					6																	129618972		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129618972C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2999C>T	6.37:g.129618972C>T	ENSP00000400365:p.Ala1000Val						p.A1000V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	21	3048	+			1000			Laminin EGF-like 10.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2999C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435747	0.83885	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63096	-0.02	5.59	4.71	0.59529	EGF-like, laminin (4);	0.089738	0.48286	D	0.000185	T	0.62780	0.2456	M	0.64260	1.97	0.50632	D	0.999883	D;D	0.58970	0.984;0.984	P;P	0.60236	0.871;0.871	T	0.64757	-0.6332	10	0.40728	T	0.16	.	11.413	0.49935	0.1421:0.7213:0.1366:0.0	.	1000;1000	A6NF00;P24043	.;LAMA2_HUMAN	V	1000	ENSP00000400365:A1000V	ENSP00000346769:A1000V	A	+	2	0	LAMA2	129660665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	1.344000	0.45657	-0.181000	0.13052	GCC		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	144	0	0	0	1	0	29	144					T	129618972	C	T	129618972	3	4	79	1	0	0	0	0	1	0	0	0	8637	739	26	2	3081	2	LAMA2	6	129618972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6154	129618972	41496095	7827	18144											
LAMA2	3908	broad.mit.edu	37	chr6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctataggcttgtaactGcagcacagtgggatccttgg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1062	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGTAACTGCAGCACAGTG	0.363																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3184-3186)tGc>tAc		laminin, alpha 2							72	73	73					6																	129634016		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129634016G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3185G>A	6.37:g.129634016G>A	ENSP00000400365:p.Cys1062Tyr						p.C1062Y	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	23	3234	+			1062			Laminin EGF-like 12.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3185G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327102	0.81690	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99368	1.0919	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1062;1062	A6NF00;P24043	.;LAMA2_HUMAN	Y	1062	ENSP00000400365:C1062Y	ENSP00000346769:C1062Y	C	+	2	0	LAMA2	129675709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.822000	0.97130	0.650000	0.86243	TGC		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	109	0	0	0	1	0	24	109					A	129634016	G	A	129634016	3	1	79	1	0	0	0	0	1	0	0	0	8637	1319	46	2	3275	2	LAMA2	6	129634016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15044	129634016	41481051	7828	18145											
LAMA2	3908	broad.mit.edu	37	chr6	129687448	129687448	+	Missense_Mutation	SNP	C	C	T													gagcatcaacctcactggtcCgctgcctgcgccatataaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687448C>T	ENST00000421865.2	+	33	4851	c.4802C>T	c.(4801-4803)cCg>cTg	p.P1601L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1601	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCACTGGTCCGCTGCCTGCG	0.512																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4801-4803)cCg>cTg		laminin, alpha 2							103	89	94					6																	129687448		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687448C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4802C>T	6.37:g.129687448C>T	ENSP00000400365:p.Pro1601Leu						p.P1601L	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4851	+			1601			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4802C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578180	0.45902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08458	3.09	5.05	5.05	0.67936	Laminin I (1);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.28170	-1.0052	10	0.10377	T	0.69	.	16.9754	0.86311	0.0:1.0:0.0:0.0	.	1601;1601	A6NF00;P24043	.;LAMA2_HUMAN	L	1601	ENSP00000400365:P1601L	ENSP00000346769:P1601L	P	+	2	0	LAMA2	129729141	1.000000	0.71417	0.990000	0.47175	0.751000	0.42716	5.165000	0.64959	2.503000	0.84419	0.655000	0.94253	CCG		0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			56	244	0	0	0	1	0	56	244					T	129687448	C	T	129687448	3	4	79	1	0	0	0	0	1	0	0	0	8637	652	23	1	4932	1	LAMA2	6	129687448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53432	129687448	41427619	7829	18146	111	2									
LAMA2	3908	broad.mit.edu	37	chr6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T													cctcactggtccgctgcctgCgccatataaaatgctgtatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1604	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGCTGCCTGCGCCATATAAA	0.512																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4810-4812)gCg>gTg		laminin, alpha 2							89	78	82					6																	129687457		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687457C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4811C>T	6.37:g.129687457C>T	ENSP00000400365:p.Ala1604Val						p.A1604V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4860	+			1604			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4811C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710739	0.30322	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.05	4.18	0.49190	Laminin I (1);	0.125811	0.56097	N	0.000037	T	0.08223	0.0205	L	0.32530	0.975	0.37433	D	0.914102	D;D	0.67145	0.996;0.992	P;P	0.56700	0.804;0.772	T	0.24154	-1.0168	10	0.31617	T	0.26	.	11.8454	0.52381	0.0:0.919:0.0:0.081	.	1604;1604	A6NF00;P24043	.;LAMA2_HUMAN	V	1604	ENSP00000400365:A1604V	ENSP00000346769:A1604V	A	+	2	0	LAMA2	129729150	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	4.074000	0.57577	1.259000	0.44117	0.655000	0.94253	GCG		0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			53	206	0	0	0	1	0	53	206					T	129687457	C	T	129687457	3	4	79	1	0	0	0	0	1	0	0	0	8637	768	27	1	4941	1	LAMA2	6	129687457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	129687457	41427610	7830	18147	111	2									
LAMA2	3908	broad.mit.edu	37	chr6	129781471	129781471	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggatgcactgtcaggTtagttgagatgagaactctc	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e49+2		laminin, alpha 2							85	80	82					6																	129781471		2203	4299	6502	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129781471T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6992+2T>C	6.37:g.129781471T>C								NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	7041	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685813	0.68157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129823164	1.000000	0.71417	0.949000	0.38748	0.500000	0.33767	7.694000	0.84235	2.270000	0.75569	0.533000	0.62120	.		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	81	353	0	0	0	1	0	81	353					C	129781471	T	C	129781471	5	2	79	1	0	0	0	0	0	0	1	0	8637	1739	60	4	7188	4	LAMA2	6	129781471	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94014	129781471	41333596	7831	18148											
ARHGAP18	93663	broad.mit.edu	37	chr6	129950516	129950516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtaatgtggcatcatcGcctttgctcttctggatttt	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGCATCATCGCCTTTGCTCT	0.413																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(766-768)ggC>ggT		Rho GTPase activating protein 18							122	119	120					6																	129950516		2203	4300	6503	SO:0001819	synonymous_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129950516G>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.768C>T	6.37:g.129950516G>A							p.G256G	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	5	856	-			256						Silent	SNP	ENST00000368149.2	37	c.768C>T	CCDS34535.1																																																																																				0.413	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		142	523	0	0	0	1	0	142	523					A	129950516	G	A	129950516	2	1	79	1	0	0	0	0	0	0	0	1	868	1074	38	1		1	ARHGAP18	6	129950516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169045	129950516	41164551	7832	18149											
SAMD3	154075	broad.mit.edu	37	chr6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagcgatctttgagggctCgtttccataaaaactgtaaa	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000368134.2	-	10	1276	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000532763.1_Missense_Mutation_p.R221Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(661-663)cGa>cAa		sterile alpha motif domain containing 3							85	84	85					6																	130497140		2203	4299	6502	SO:0001583	missense	154075							g.chr6:130497140C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.668G>A	6.37:g.130497140C>T	ENSP00000357116:p.Arg223Gln					SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q	p.R221Q			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	791	-			223					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.662G>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020104	0.93462	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.46819	1.0;0.99;1.0;1.0;0.86	5.69	5.69	0.88448	.	0.000000	0.52532	D	0.000073	T	0.54481	0.1861	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40813	-0.9543	10	0.19147	T	0.46	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	223	Q8N6K7	SAMD3_HUMAN	Q	223;247;223;223;221	ENSP00000357116:R223Q;ENSP00000402092:R247Q;ENSP00000403565:R223Q;ENSP00000391163:R223Q;ENSP00000436088:R221Q	ENSP00000357116:R223Q	R	-	2	0	SAMD3	130538833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	CGA		0.348	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		62	266	0	0	0	1	0	62	266					T	130497140	C	T	130497140	3	4	79	1	0	0	0	0	1	0	0	0	13870	884	31	1	914	1	SAMD3	6	130497140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546624	130497140	40617927	7833	18150											
SAMD3	154075	broad.mit.edu	37	chr6	130505263	130505263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacgaagccacagccatcCtcatccaggaaagggtgggc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000368134.2	-	9	1247	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000532763.1_Silent_p.E211E|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(631-633)gaG>gaA		sterile alpha motif domain containing 3							102	86	92					6																	130505263		2203	4300	6503	SO:0001819	synonymous_variant	154075							g.chr6:130505263C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.639G>A	6.37:g.130505263C>T						SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000368134.2_Silent_p.E213E	p.E211E			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	762	-			213					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.633G>A	CCDS34539.1																																																																																				0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		25	161	0	0	0	1	0	25	161					T	130505263	C	T	130505263	2	4	79	1	0	0	0	0	0	0	0	1	13870	680	24	2		2	SAMD3	6	130505263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8123	130505263	40609804	7834	18151											
TMEM200A	114801	broad.mit.edu	37	chr6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taactgtgttattgatgagcCcagtatagataacatcactg	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000296978.3	+	3	1779	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	303						integral component of membrane (GO:0016021)				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)		ATTGATGAGCCCAGTATAGAT	0.408																																						ENST00000392429.1																			0				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						c.(907-909)cCc>cAc		transmembrane protein 200A							128	124	125					6																	130762475		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762475C>A	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.908C>A	6.37:g.130762475C>A	ENSP00000296978:p.Pro303His					TMEM200A_ENST00000296978.3_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	p.P303H	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3286	+			303					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.908C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400639	0.83120	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65224	-0.6220	9	0.72032	D	0.01	-33.6773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	303	Q86VY9	T200A_HUMAN	H	303	.	ENSP00000296978:P303H	P	+	2	0	TMEM200A	130804168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CCC		0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		71	341	1	0	2.23399e-28	1	2.59905e-28	71	341					A	130762475	C	A	130762475	3	1	79	1	0	0	0	0	1	0	0	0	16175	623	22	3	910	3	TMEM200A	6	130762475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257212	130762475	40352592	7835	18152											
EPB41L2	2037	broad.mit.edu	37	chr6	131190813	131190813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgtcttgcttaagagCgccttcgtgtacactcttct	7	13	3	1	rs150873575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131190813C>T	ENST00000337057.3	-	15	2678	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	833					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCTTAAGAGCGCCTTCGTGT	0.458																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2497-2499)Gct>Act		erythrocyte membrane protein band 4.1-like 2		C	,,,,THR/ALA	0,4406		0,0,2203	252	220	231		,,,,2497	2.7	0.3	6	dbSNP_134	231	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,benign	,,,,833/1006	131190813	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190813C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2497G>A	6.37:g.131190813C>T	ENSP00000338481:p.Ala833Thr					EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron	p.A833T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2678	-	Breast(56;0.0639)		833					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2497G>A	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.543|3.543	-0.093344|-0.093344	0.07053|0.07053	0.0|0.0	1.16E-4|1.16E-4	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	T;T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98;1.98|.	5.71|5.71	2.66|2.66	0.31614|0.31614	.|.	2.696700|.	0.01772|.	N|.	0.031234|.	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25312|.	0.123;0.002;0.001|.	B;B;B|.	0.12837|.	0.008;0.0;0.0|.	T|T	0.37220|0.37220	-0.9715|-0.9715	10|5	0.13470|.	T|.	0.59|.	.|.	8.3019|8.3019	0.32019|0.32019	0.0:0.4306:0.0:0.5694|0.0:0.4306:0.0:0.5694	.|.	230;833;211|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	T|H	833;230;833;763;211;763;232|375	ENSP00000338481:A833T;ENSP00000357110:A833T;ENSP00000436348:A763T;ENSP00000437207:A211T;ENSP00000436641:A763T;ENSP00000437295:A232T|.	ENSP00000257986:A230T|.	A|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232506|131232506	0.009000|0.009000	0.17119|0.17119	0.268000|0.268000	0.24571|0.24571	0.645000|0.645000	0.38454|0.38454	0.418000|0.418000	0.21230|0.21230	0.205000|0.205000	0.20568|0.20568	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			25	1132	0	0	0	1	0	25	1132					T	131190813	C	T	131190813	3	4	79	1	0	0	0	0	1	0	0	0	5171	768	27	1	540	1	EPB41L2	6	131190813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428338	131190813	39924254	7836	18153											
EPB41L2	2037	broad.mit.edu	37	chr6	131199340	131199340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaattgcgcttgagttcActaatgctagcctgatgttt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000337057.3	-	14	2128	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	649	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1945-1947)agT>agC		erythrocyte membrane protein band 4.1-like 2							208	173	185					6																	131199340		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199340A>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1947T>C	6.37:g.131199340A>G						EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron	p.S649S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2128	-	Breast(56;0.0639)		649			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1947T>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641157	0.29157	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0395	0.80654	1.0:0.0:0.0:0.0	.	.	.	.	R	140	.	.	X	-	1	0	EPB41L2	131241033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.188000	0.69820	0.533000	0.62120	TGA		0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			64	277	0	0	0	1	0	64	277					G	131199340	A	G	131199340	2	3	79	1	0	0	0	0	0	0	0	1	5171	156	6	4		4	EPB41L2	6	131199340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8527	131199340	39915727	7837	18154											
EPB41L2	2037	broad.mit.edu	37	chr6	131276458	131276458	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacttactaattcagtaggCtgttgaggaaaaaaaaataa	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000337057.3	-	3	674		c.e3-1		EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000445890.2_Splice_Site	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.e3-1		erythrocyte membrane protein band 4.1-like 2							134	133	133					6																	131276458		2203	4300	6503	SO:0001630	splice_region_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131276458C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.493-1G>A	6.37:g.131276458C>T						EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site		NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	3	674	-	Breast(56;0.0639)							B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Splice_Site	SNP	ENST00000337057.3	37		CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131318151	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	5.014000	0.64029	2.713000	0.92767	0.655000	0.94253	.		0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		Intron	91	501	0	0	0	1	0	91	501					T	131276458	C	T	131276458	5	4	79	1	0	0	0	0	0	0	1	0	5171	811	28	2	2593	2	EPB41L2	6	131276458	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77118	131276458	39838609	7838	18155											
AKAP7	9465	broad.mit.edu	37	chr6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggaattaagatcctgcaGaatgcaataatacaacaaga	7	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	106						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(316-318)caG>caT		A kinase (PRKA) anchor protein 7							82	81	82					6																	131486247		2203	4300	6503	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131486247G>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.318G>T	6.37:g.131486247G>T	ENSP00000405252:p.Gln106His					AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000366358.2_3'UTR	p.Q106H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	4	416	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.318G>T	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398757	0.42512	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.70045	-0.45;-0.45;-0.45	5.8	0.68	0.17980	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	M	0.80746	2.51	0.36895	D	0.890105	D	0.76494	0.999	D	0.77004	0.989	T	0.72616	-0.4239	10	0.66056	D	0.02	-9.2246	8.3215	0.32132	0.6761:0.0:0.3239:0.0	.	106	Q9P0M2	AKA7G_HUMAN	H	106;105;84	ENSP00000405252:Q106H;ENSP00000441048:Q105H;ENSP00000357105:Q84H	ENSP00000357105:Q84H	Q	+	3	2	AKAP7	131527940	0.997000	0.39634	0.641000	0.29422	0.742000	0.42306	0.436000	0.21526	0.125000	0.18397	-0.295000	0.09555	CAG		0.323	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		29	146	1	0	5.60225e-13	1	6.03507e-13	29	146					T	131486247	G	T	131486247	3	4	79	1	0	0	0	0	1	0	0	0	456	933	33	3	262	3	AKAP7	6	131486247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209789	131486247	39628820	7839	18156											
AKAP7	9465	broad.mit.edu	37	chr6	131520710	131520710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatcaccgtggctccgtaaGaatgtgagtgcatgttctta	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000537868.1_5'Flank|AKAP7_ENST00000263050.3_5'Flank|AKAP7_ENST00000368123.4_Silent_p.K211K	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	233						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(697-699)aaG>aaA		A kinase (PRKA) anchor protein 7							129	106	114					6																	131520710		2203	4300	6503	SO:0001819	synonymous_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131520710G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.699G>A	6.37:g.131520710G>A			OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588	AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000541650.1_Silent_p.K232K	p.K233K	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	6	797	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	c.699G>A	CCDS5142.2																																																																																				0.453	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		27	247	0	0	0	1	0	27	247					A	131520710	G	A	131520710	2	1	79	1	0	0	0	0	0	0	0	1	456	933	33	2		2	AKAP7	6	131520710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34463	131520710	39594357	7840	18157											
AKAP7	9465	broad.mit.edu	37	chr6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtaggtgaaaagaacGgaggggagcccgatgacgct	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	288						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(862-864)Gga>Aga		A kinase (PRKA) anchor protein 7							58	59	58					6																	131602681		2203	4300	6503	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131602681G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.862G>A	6.37:g.131602681G>A	ENSP00000405252:p.Gly288Arg					AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R	p.G288R	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	8	960	+	Breast(56;0.152)		44					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.862G>A	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859363	0.32884	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.31769	1.48;1.48	5.8	3.01	0.34805	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.743893	0.13078	N	0.415487	T	0.05044	0.0135	N	0.12182	0.205	0.29526	N	0.853124	B;P;B	0.37276	0.358;0.589;0.141	B;B;B	0.30105	0.111;0.111;0.028	T	0.26292	-1.0107	10	0.30078	T	0.28	-5.9237	7.7353	0.28810	0.1489:0.1412:0.7099:0.0	.	21;44;288	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	288;266;24;21;44	ENSP00000405252:G288R;ENSP00000357105:G266R	ENSP00000263050:G24R	G	+	1	0	AKAP7	131644374	0.996000	0.38824	0.915000	0.36163	0.992000	0.81027	2.395000	0.44459	0.772000	0.33382	0.655000	0.94253	GGA		0.507	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		32	191	0	0	0	1	0	32	191					A	131602681	G	A	131602681	3	1	79	1	0	0	0	0	1	0	0	0	456	1117	39	1	948	1	AKAP7	6	131602681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81971	131602681	39512386	7841	18158											
MED23	9439	broad.mit.edu	37	chr6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggtaataatgtcgttttCgttgctcattgacttccact	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000368068.3	-	19	2496	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	773					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGTCGTTTTCGTTGCTCATT	0.393																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2335-2337)Gaa>Aaa		mediator complex subunit 23							193	182	186					6																	131919805		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919805C>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2317G>A	6.37:g.131919805C>T	ENSP00000357047:p.Glu773Lys					MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368068.3_Missense_Mutation_p.E773K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K	p.E779K			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2508	-	Breast(56;0.0753)		773					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2335G>A	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590256	0.96590	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.80764	0.993;0.956;0.994;0.99	D	0.84986	0.0891	10	0.49607	T	0.09	-0.1527	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;779;773;779	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	779;773;779;773;779;414;779;779	ENSP00000346588:E779K;ENSP00000357047:E773K;ENSP00000384536:E779K;ENSP00000357039:E773K;ENSP00000357037:E779K;ENSP00000439977:E414K;ENSP00000357032:E779K;ENSP00000437818:E779K	ENSP00000346588:E779K	E	-	1	0	MED23	131961498	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			69	322	0	0	0	1	0	69	322					T	131919805	C	T	131919805	3	4	79	1	0	0	0	0	1	0	0	0	9482	893	31	1	1840	1	MED23	6	131919805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317124	131919805	39195262	7842	18159											
MED23	9439	broad.mit.edu	37	chr6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaagcgtgtaaactgcgGttgtacctctgagctaccta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000368068.3	-	17	2166	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.P669S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	663					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAAACTGCGGTTGTACCTCT	0.418																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2005-2007)Ccg>Tcg		mediator complex subunit 23							141	123	129					6																	131923466		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131923466G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1987C>T	6.37:g.131923466G>A	ENSP00000357047:p.Pro663Ser					MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.P663S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S	p.P669S			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	17	2178	-	Breast(56;0.0753)		663					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2005C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904542	0.72868	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.985;0.981	P;D;P;P	0.75484	0.863;0.986;0.817;0.721	T	0.81833	-0.0751	10	0.48119	T	0.1	-5.0311	19.8316	0.96638	0.0:0.0:1.0:0.0	.	304;669;663;669	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	S	669;663;669;663;52;669;304;669;669	ENSP00000346588:P669S;ENSP00000357047:P663S;ENSP00000384536:P669S;ENSP00000357039:P663S;ENSP00000357037:P669S;ENSP00000439977:P304S;ENSP00000357032:P669S;ENSP00000437818:P669S	ENSP00000346588:P669S	P	-	1	0	MED23	131965159	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CCG		0.418	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			32	296	0	0	0	1	0	32	296					A	131923466	G	A	131923466	3	1	79	1	0	0	0	0	1	0	0	0	9482	1261	44	2	2178	2	MED23	6	131923466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3661	131923466	39191601	7843	18160											
MED23	9439	broad.mit.edu	37	chr6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggagttggcttgttcCcccatcgtcaaacttctcct	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000368068.3	-	11	1152	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	325					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGCTTGTTCCCCCATCGTCA	0.498																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(991-993)Gga>Tga		mediator complex subunit 23							124	118	120					6																	131931290		2203	4300	6503	SO:0001587	stop_gained	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131931290C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.973G>T	6.37:g.131931290C>A	ENSP00000357047:p.Gly325*					MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368068.3_Nonsense_Mutation_p.G325*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*	p.G331*			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	11	1164	-	Breast(56;0.0753)		325					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	37	c.991G>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420626	0.96111	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4066	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	331;325;331;325;331;14;331;331;325	.	ENSP00000346588:G331X	G	-	1	0	MED23	131972983	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.730000	0.93505	0.591000	0.81541	GGA		0.498	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			65	344	1	0	9.39563e-20	1	1.04965e-19	65	344					A	131931290	C	A	131931290	4	1	79	1	0	0	0	0	0	1	0	0	9482	632	22	3	3216	3	MED23	6	131931290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7824	131931290	39183777	7844	18161											
ENPP3	5169	broad.mit.edu	37	chr6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctggacctgcccaaagCtgaaaggtaatgtctagtgt	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	311	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGCCCAAAGCTGAAAGGTAA	0.318																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(931-933)gCt>gTt		ectonucleotide pyrophosphatase/phosphodiesterase 3							81	79	79					6																	131997935		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131997935C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.932C>T	6.37:g.131997935C>T	ENSP00000406261:p.Ala311Val					ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V	p.A311V			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	11	1260	+	Breast(56;0.0753)		311			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.932C>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703247	0.68501	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75477	-0.94;-0.94;-0.94	4.84	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.741475	0.12195	N	0.490799	T	0.62441	0.2428	M	0.64676	1.99	0.80722	D	1	P	0.38335	0.627	B	0.41135	0.348	T	0.60826	-0.7186	10	0.34782	T	0.22	-5.1856	11.5456	0.50693	0.3241:0.6759:0.0:0.0	.	311	O14638	ENPP3_HUMAN	V	311	ENSP00000406261:A311V;ENSP00000350265:A311V;ENSP00000350964:A311V	ENSP00000350265:A311V	A	+	2	0	ENPP3	132039628	0.008000	0.16893	1.000000	0.80357	0.950000	0.60333	0.198000	0.17217	1.127000	0.42034	0.549000	0.68633	GCT		0.318	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			51	219	0	0	0	1	0	51	219					T	131997935	C	T	131997935	3	4	79	1	0	0	0	0	1	0	0	0	5149	797	28	2	970	2	ENPP3	6	131997935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66645	131997935	39117132	7845	18162											
ENPP3	5169	broad.mit.edu	37	chr6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaacaatggaacccatgGtagtttaaaccatcttctga	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	537					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGAACCCATGGTAGTTTAAAC	0.408																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1609-1611)gGt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 3							158	139	145					6																	132043409		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132043409G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1610G>A	6.37:g.132043409G>A	ENSP00000406261:p.Gly537Asp					ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D	p.G537D			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	19	1938	+	Breast(56;0.0753)		537					Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1610G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842462	0.91197	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76839	-0.98;-0.98;-1.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85201	0.1015	10	0.87932	D	0	-22.0949	20.1581	0.98126	0.0:0.0:1.0:0.0	.	537	O14638	ENPP3_HUMAN	D	537	ENSP00000406261:G537D;ENSP00000350265:G537D;ENSP00000350964:G537D	ENSP00000350265:G537D	G	+	2	0	ENPP3	132085102	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	7.942000	0.87708	2.937000	0.99478	0.650000	0.86243	GGT		0.408	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			74	294	0	0	0	1	0	74	294					A	132043409	G	A	132043409	3	1	79	1	0	0	0	0	1	0	0	0	5149	1261	44	2	1680	2	ENPP3	6	132043409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45474	132043409	39071658	7846	18163											
STX7	8417	broad.mit.edu	37	chr6	132785210	132785210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccacattggcttctatGctatctgtaaaataaaacac	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	205	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(613-615)agC>agT		syntaxin 7							136	117	123					6																	132785210		2203	4300	6503	SO:0001819	synonymous_variant	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132785210G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.615C>T	6.37:g.132785210G>A						STX7_ENST00000367937.4_Silent_p.S205S	p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	9	728	-	Breast(56;0.0615)		205			t-SNARE coiled-coil homology.		E1P579|Q5SZW2|Q96ES9	Silent	SNP	ENST00000367941.2	37	c.615C>T	CCDS5153.1																																																																																				0.363	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			81	457	0	0	0	1	0	81	457					A	132785210	G	A	132785210	2	1	79	1	0	0	0	0	0	0	0	1	15402	1310	46	2		2	STX7	6	132785210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741801	132785210	38329857	7847	18164											
STX7	8417	broad.mit.edu	37	chr6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggaactggctcttactcGagcaacaaactctttctctc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	121					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTCTTACTCGAGCAACAAAC	0.428																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(361-363)Cga>Tga		syntaxin 7							143	136	138					6																	132792628		2203	4300	6503	SO:0001587	stop_gained	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792628G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.361C>T	6.37:g.132792628G>A	ENSP00000356918:p.Arg121*					STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*	p.R121*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	5	474	-	Breast(56;0.0615)		121					E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	37	c.361C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.875587	0.97055	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5279	7.0116	0.24865	0.0891:0.0:0.5468:0.3641	.	.	.	.	X	121;121;76;121	.	ENSP00000309600:R76X	R	-	1	2	STX7	132834321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	1.516000	0.48900	0.655000	0.94253	CGA		0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			15	546	0	0	0	1	0	15	546					A	132792628	G	A	132792628	4	1	79	1	0	0	0	0	0	1	0	0	15402	1066	37	1	448	1	STX7	6	132792628	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7418	132792628	38322439	7848	18165											
TAAR8	83551	broad.mit.edu	37	chr6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatctcttagtaatgaCttctgttcttcattttaagc	6	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	54					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTAGTAATGACTTCTGTTCTT	0.448																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(160-162)aCt>aTt		trace amine associated receptor 8							192	195	194					6																	132873992		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873992C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.161C>T	6.37:g.132873992C>T	ENSP00000275200:p.Thr54Ile						p.T54I	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	161	+	Breast(56;0.112)		54					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.161C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521401	0.00967	.	.	ENSG00000146385	ENST00000275200	T	0.35048	1.33	4.72	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.762462	0.11154	N	0.593777	T	0.02494	0.0076	N	0.01003	-1.06	0.20307	N	0.999914	B	0.02656	0.0	B	0.11329	0.006	T	0.47032	-0.9148	10	0.02654	T	1	-2.5206	10.2876	0.43577	0.0:0.1991:0.0:0.8009	.	54	Q969N4	TAAR8_HUMAN	I	54	ENSP00000275200:T54I	ENSP00000275200:T54I	T	+	2	0	TAAR8	132915685	0.000000	0.05858	0.037000	0.18230	0.579000	0.36224	-0.075000	0.11431	-0.328000	0.08539	0.655000	0.94253	ACT		0.448	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		193	923	0	0	0	1	0	193	923					T	132873992	C	T	132873992	3	4	79	1	0	0	0	0	1	0	0	0	15545	565	20	2	163	2	TAAR8	6	132873992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81364	132873992	38241075	7849	18166											
TAAR8	83551	broad.mit.edu	37	chr6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttattttaagtggagatgttTtaaaggctagttcatcaacc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	330					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGAGATGTTTTAAAGGCTAG	0.264																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(988-990)Tta>Ata		trace amine associated receptor 8							49	52	51					6																	132874819		2202	4300	6502	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874819T>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.988T>A	6.37:g.132874819T>A	ENSP00000275200:p.Leu330Ile						p.L330I	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	988	+	Breast(56;0.112)		330					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.988T>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061570	0.19987	.	.	ENSG00000146385	ENST00000275200	T	0.70045	-0.45	4.3	1.76	0.24704	.	0.460485	0.17385	N	0.176156	T	0.60431	0.2268	M	0.79805	2.47	0.19945	N	0.999946	P	0.44521	0.837	P	0.49597	0.616	T	0.56251	-0.8010	10	0.66056	D	0.02	-0.0166	8.9788	0.35953	0.0:0.1568:0.0:0.8432	.	330	Q969N4	TAAR8_HUMAN	I	330	ENSP00000275200:L330I	ENSP00000275200:L330I	L	+	1	2	TAAR8	132916512	0.022000	0.18835	0.003000	0.11579	0.151000	0.21798	0.819000	0.27308	0.254000	0.21573	0.459000	0.35465	TTA		0.264	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		71	319	0	0	0	1	0	71	319					A	132874819	T	A	132874819	3	1	79	1	0	0	0	0	1	0	0	0	15545	1838	64	5	990	5	TAAR8	6	132874819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	827	132874819	38240248	7850	18167											
TAAR6	319100	broad.mit.edu	37	chr6	132891977	132891977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttctacacaggtgtcTatgacgatgggctggaggaa	14	7	2	1	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	ENST00000275198.1	+	1	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	173			Y -> C (in dbSNP:rs17061404). {ECO:0000269|PubMed:15329799}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CACAGGTGTCTATGACGATGG	0.468													T|||	7	0.00139776	0.0	0.0029	5008	,	,		19505	0.0		0.003	False		,,,				2504	0.002					ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(517-519)Tat>Cat		trace amine associated receptor 6		T	HIS/TYR	8,4398	14.3+/-33.2	0,8,2195	199	200	199		517	1.4	0	6	dbSNP_127	199	35,8565	24.0+/-70.4	0,35,4265	yes	missense	TAAR6	NM_175067.1	83	0,43,6460	CC,CT,TT		0.407,0.1816,0.3306	benign	173/346	132891977	43,12963	2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891977T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.517T>C	6.37:g.132891977T>C	ENSP00000275198:p.Tyr173His						p.Y173H	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	517	+	Breast(56;0.112)		173		Y -> C (in dbSNP:rs17061404).			Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.517T>C	CCDS5155.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	11.58	1.679701	0.29783	0.001816	0.00407	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.72505	-0.66	5.11	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.286909	0.20600	N	0.089177	T	0.21227	0.0511	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.19224	-1.0312	10	0.27082	T	0.32	-2.0739	1.253	0.01986	0.4799:0.179:0.1013:0.2398	rs41298397	173	Q96RI8	TAAR6_HUMAN	H	173;156	ENSP00000275198:Y173H	ENSP00000275198:Y173H	Y	+	1	0	TAAR6	132933670	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.098000	0.11024	0.076000	0.16826	0.528000	0.53228	TAT		0.468	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		205	818	0	0	0	1	0	205	818					C	132891977	T	C	132891977	3	2	79	1	0	0	0	0	1	0	0	0	15544	1522	53	4	519	4	TAAR6	6	132891977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17158	132891977	38223090	7851	18168											
TAAR6	319100	broad.mit.edu	37	chr6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttattatgataattctgTatggtaacatatttcttgtg	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	217					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GATAATTCTGTATGGTAACAT	0.383																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(649-651)Tat>Cat		trace amine associated receptor 6							73	74	74					6																	132892109		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892109T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.649T>C	6.37:g.132892109T>C	ENSP00000275198:p.Tyr217His						p.Y217H	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	649	+	Breast(56;0.112)		217					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.649T>C	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650421	0.47362	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.60424	0.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.78310	0.4263	H	0.94582	3.555	0.42362	D	0.992412	D	0.53151	0.958	D	0.65987	0.94	D	0.85036	0.0920	10	0.87932	D	0	-12.3275	15.0602	0.71947	0.0:0.0:0.0:1.0	.	217	Q96RI8	TAAR6_HUMAN	H	217;200	ENSP00000275198:Y217H	ENSP00000275198:Y217H	Y	+	1	0	TAAR6	132933802	1.000000	0.71417	0.015000	0.15790	0.228000	0.25075	4.912000	0.63335	2.132000	0.65825	0.528000	0.53228	TAT		0.383	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		63	252	0	0	0	1	0	63	252					C	132892109	T	C	132892109	3	2	79	1	0	0	0	0	1	0	0	0	15544	1638	57	4	651	4	TAAR6	6	132892109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132	132892109	38222958	7852	18169											
TAAR5	9038	broad.mit.edu	37	chr6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggctcagtgtgagtTtcagtgccttccgaaaccac	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	317					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(949-951)aAa>aCa		trace amine associated receptor 5							106	101	103					6																	132909876		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132909876T>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.950A>C	6.37:g.132909876T>G	ENSP00000258034:p.Lys317Thr						p.K317T	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	1001	-	Breast(56;0.112)		317					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.950A>C	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661767	0.29515	.	.	ENSG00000135569	ENST00000258034	T	0.42131	0.98	5.47	3.01	0.34805	.	0.075082	0.52532	D	0.000079	T	0.56863	0.2014	M	0.88512	2.96	0.38733	D	0.953723	D	0.71674	0.998	D	0.69479	0.964	T	0.66126	-0.6001	10	0.87932	D	0	-5.2115	11.3667	0.49677	0.0:0.0:0.2901:0.7099	.	317	O14804	TAAR5_HUMAN	T	317	ENSP00000258034:K317T	ENSP00000258034:K317T	K	-	2	0	TAAR5	132951569	0.001000	0.12720	0.981000	0.43875	0.025000	0.11179	0.066000	0.14489	0.472000	0.27344	0.533000	0.62120	AAA		0.468	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		70	238	0	0	0	1	0	70	238					G	132909876	T	G	132909876	3	3	79	1	0	0	0	0	1	0	0	0	15543	1841	64	4	67	4	TAAR5	6	132909876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17767	132909876	38205191	7853	18170											
TAAR5	9038	broad.mit.edu	37	chr6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggggtcacagatggcacAgtggcggtcaatggaaatga	16	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	134					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGATGGCACAGTGGCGGTCA	0.577																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(400-402)Tgt>Ggt		trace amine associated receptor 5							99	106	104					6																	132910426		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910426A>C	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.400T>G	6.37:g.132910426A>C	ENSP00000258034:p.Cys134Gly						p.C134G	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	451	-	Breast(56;0.112)		134					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.400T>G	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506179	0.12883	.	.	ENSG00000135569	ENST00000258034	T	0.37411	1.2	5.58	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.076401	0.56097	D	0.000036	T	0.25606	0.0623	L	0.58583	1.82	0.20307	N	0.999915	P	0.38978	0.652	P	0.47915	0.561	T	0.10109	-1.0644	10	0.41790	T	0.15	-3.3848	10.982	0.47499	0.6456:0.0:0.0:0.3544	.	134	O14804	TAAR5_HUMAN	G	134	ENSP00000258034:C134G	ENSP00000258034:C134G	C	-	1	0	TAAR5	132952119	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	0.001000	0.13038	0.506000	0.28125	0.533000	0.62120	TGT		0.577	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		12	400	0	0	0	1	0	12	400					C	132910426	A	C	132910426	3	2	79	1	0	0	0	0	1	0	0	0	15543	188	7	4	617	4	TAAR5	6	132910426	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	550	132910426	38204641	7854	18171											
TAAR2	9287	broad.mit.edu	37	chr6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatggaaattatcatggCaagattgccaaatattgtga	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000367931.1	-	2	186	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000275191.2_Missense_Mutation_p.A18T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	63					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(52-54)Gcc>Acc		trace amine associated receptor 2							112	107	108					6																	132939158		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939158C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.187G>A	6.37:g.132939158C>T	ENSP00000356908:p.Ala63Thr					TAAR2_ENST00000367931.1_Missense_Mutation_p.A63T|TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T	p.A18T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	159	-	Breast(56;0.135)		63					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.52G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398649	0.42512	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.422419	0.24506	N	0.037938	T	0.34077	0.0885	N	0.21545	0.675	0.24232	N	0.995398	B	0.17465	0.022	B	0.20955	0.032	T	0.28004	-1.0057	10	0.66056	D	0.02	-11.0516	6.0328	0.19688	0.129:0.6458:0.0:0.2252	.	63	Q9P1P5	TAAR2_HUMAN	T	18;63;18	ENSP00000275191:A18T;ENSP00000356908:A63T;ENSP00000441263:A18T	ENSP00000275191:A18T	A	-	1	0	TAAR2	132980851	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.038000	0.12144	0.769000	0.33313	0.650000	0.86243	GCC		0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		92	358	0	0	0	1	0	92	358					T	132939158	C	T	132939158	3	4	79	1	0	0	0	0	1	0	0	0	15542	710	25	2	872	2	TAAR2	6	132939158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28732	132939158	38175909	7855	18172											
TAAR1	134864	broad.mit.edu	37	chr6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgagctcagcataatgtCggtgcttgtgtgaattttac	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.D103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AGCATAATGTCGGTGCTTGTG	0.438																																						ENST00000275216.1																			1	Substitution - Missense(1)	p.D103N(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(307-309)Gac>Aac		trace amine associated receptor 1	Amphetamine(DB00182)						86	82	83					6																	132966836		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966836C>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.307G>A	6.37:g.132966836C>T	ENSP00000275216:p.Asp103Asn						p.D103N	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	306	-	Breast(56;0.135)		103					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.307G>A	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	TAAR1	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC		0.438	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		51	258	0	0	0	1	0	51	258					T	132966836	C	T	132966836	3	4	79	1	0	0	0	0	1	0	0	0	15541	884	31	1	716	1	TAAR1	6	132966836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27678	132966836	38148231	7856	18173											
VNN1	8876	broad.mit.edu	37	chr6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttcagactaaacaagCgtccgtcagttgacacctga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.R459H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398																																						ENST00000367928.4																			1	Substitution - Missense(1)	p.R459H(1)	lung(1)	NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1375-1377)cGc>cAc		vanin 1							99	91	94					6																	133004445		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133004445C>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1376G>A	6.37:g.133004445C>T	ENSP00000356905:p.Arg459His						p.R459H	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	7	1389	-	Breast(56;0.135)		459					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.1376G>A	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866004	0.51588	.	.	ENSG00000112299	ENST00000367928	D	0.93247	-3.19	5.86	4.99	0.66335	.	0.074910	0.64402	D	0.000020	D	0.88596	0.6479	M	0.85630	2.765	0.46396	D	0.999022	P	0.42993	0.797	B	0.34779	0.189	D	0.88288	0.2941	10	0.15952	T	0.53	-14.1688	14.725	0.69339	0.0:0.931:0.0:0.069	.	459	O95497	VNN1_HUMAN	H	459	ENSP00000356905:R459H	ENSP00000356905:R459H	R	-	2	0	VNN1	133046138	0.939000	0.31865	0.653000	0.29593	0.862000	0.49288	2.266000	0.43320	1.484000	0.48361	0.650000	0.86243	CGC		0.398	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			44	149	0	0	0	1	0	44	149					T	133004445	C	T	133004445	3	4	79	1	0	0	0	0	1	0	0	0	17236	768	27	1	169	1	VNN1	6	133004445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37609	133004445	38110622	7857	18174											
EYA4	2070	broad.mit.edu	37	chr6	133836487	133836487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgccaagagggatgcCtggctacagttaagggcaga	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000367895.5	+	17	1994	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000525849.1_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000531901.1_Silent_p.A516A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	510					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAGGGATGCCTGGCTACAGT	0.428																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1528-1530)gcC>gcT		eyes absent homolog 4 (Drosophila)							162	155	157					6																	133836487		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133836487C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1530C>T	6.37:g.133836487C>T						EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000525849.1_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000430974.2_Silent_p.A462A	p.A510A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	1994	+	Colorectal(23;0.221)		510					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1530C>T	CCDS5165.1																																																																																				0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		94	417	0	0	0	1	0	94	417					T	133836487	C	T	133836487	2	4	79	1	0	0	0	0	0	0	0	1	5349	668	24	2		2	EYA4	6	133836487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832042	133836487	37278580	7858	18175											
EYA4	2070	broad.mit.edu	37	chr6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccccattgagaatatttAcagtgcaactaaaataggta	6	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000367895.5	+	18	2185	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C	EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	574					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAGAATATTTACAGTGCAACT	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1720-1722)tAc>tGc		eyes absent homolog 4 (Drosophila)							117	117	117					6																	133844298		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844298A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1721A>G	6.37:g.133844298A>G	ENSP00000356870:p.Tyr574Cys					EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C	p.Y574C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2185	+	Colorectal(23;0.221)		574					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1721A>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390054	0.82902	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.19;-4.31;-4.43;-4.27;-4.43;-4.43;-4.43	6.16	6.16	0.99307	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87547	2.89	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	0.99741	1.1015	10	0.87932	D	0	-11.9122	16.8061	0.85666	1.0:0.0:0.0:0.0	.	580;526;520;551;574;574	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	520;526;574;574;551;580;551;574	ENSP00000395916:Y520C;ENSP00000388670:Y526C;ENSP00000356870:Y574C;ENSP00000347294:Y574C;ENSP00000347434:Y551C;ENSP00000432770:Y580C;ENSP00000433219:Y551C;ENSP00000404558:Y574C	ENSP00000347294:Y574C	Y	+	2	0	EYA4	133885991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TAC		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		104	462	0	0	0	1	0	104	462					G	133844298	A	G	133844298	3	3	79	1	0	0	0	0	1	0	0	0	5349	391	14	4	1787	4	EYA4	6	133844298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7811	133844298	37270769	7859	18176											
SLC2A12	154091	broad.mit.edu	37	chr6	134350298	134350298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttcatcaccagaaacCgagggcttggaggaagaaaa	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134350298C>T	ENST00000275230.5	-	2	820	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	222					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CACCAGAAACCGAGGGCTTGG	0.448																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(664-666)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 12							76	78	78					6																	134350298		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350298C>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.665G>A	6.37:g.134350298C>T	ENSP00000275230:p.Arg222Gln						p.R222Q	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	820	-	Breast(56;0.214)|Colorectal(23;0.221)		222					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.665G>A	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720699	0.89205	.	.	ENSG00000146411	ENST00000275230	T	0.79653	-1.29	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93615	0.6942	10	0.87932	D	0	-14.6014	19.174	0.93594	0.0:1.0:0.0:0.0	.	222	Q8TD20	GTR12_HUMAN	Q	222	ENSP00000275230:R222Q	ENSP00000275230:R222Q	R	-	2	0	SLC2A12	134391991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.542000	0.85734	0.467000	0.42956	CGG		0.448	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			8	442	0	0	0	1	0	8	442					T	134350298	C	T	134350298	3	4	79	1	0	0	0	0	1	0	0	0	14591	652	23	1	1204	1	SLC2A12	6	134350298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506000	134350298	36764769	7860	18177											
ALDH8A1	64577	broad.mit.edu	37	chr6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaccggggcccgcaccGtgtagtgcatgcagcccagg	13	17	0	0	rs533886052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.001					ENST00000265605.2																			1	Substitution - Missense(1)	p.T140M(1)	NS(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(418-420)aCg>aTg		aldehyde dehydrogenase 8 family, member A1							86	80	82					6																	135263570		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263570G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.419C>T	6.37:g.135263570G>A	ENSP00000265605:p.Thr140Met					RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	487	-	Colorectal(23;0.221)		140					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.419C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	ALDH8A1	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			9	307	0	0	0	1	0	9	307					A	135263570	G	A	135263570	3	1	79	1	0	0	0	0	1	0	0	0	505	1145	40	1	1064	1	ALDH8A1	6	135263570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	913272	135263570	35851497	7861	18178											
HBS1L	10767	broad.mit.edu	37	chr6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagctctaccaatgcatTctggcctttagtcaaaaacc	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	640					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1918-1920)Aat>Cat		HBS1-like (S. cerevisiae)							114	112	112					6																	135287592		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287592T>G	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1918A>C	6.37:g.135287592T>G	ENSP00000356811:p.Asn640His					HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H	p.N640H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2124	-	Colorectal(23;0.221)		640					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1918A>C	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476985	0.84640	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.13;-0.12;-0.13;0.9	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.76615	-0.2894	10	0.66056	D	0.02	-32.104	16.4277	0.83824	0.0:0.0:0.0:1.0	.	598;640	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	H	640;476;575;598;476;510;364	ENSP00000356811:N640H;ENSP00000436256:N476H;ENSP00000389826:N575H;ENSP00000356800:N598H;ENSP00000356798:N476H;ENSP00000434533:N510H;ENSP00000415305:N364H	ENSP00000356798:N476H	N	-	1	0	HBS1L	135329285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAT		0.328	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			91	404	0	0	0	1	0	91	404					G	135287592	T	G	135287592	3	3	79	1	0	0	0	0	1	0	0	0	7017	1783	62	4	144	4	HBS1L	6	135287592	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24022	135287592	35827475	7862	18179											
HBS1L	10767	broad.mit.edu	37	chr6	135306532	135306532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtcaatagatcgctggGgaggcttaaaggaatctgga	14	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135306532G>T	ENST00000367837.5	-	12	1645	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	480	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGATCGCTGGGGAGGCTTAAA	0.353																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1438-1440)cCc>cAc		HBS1-like (S. cerevisiae)							138	142	141					6																	135306532		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135306532G>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1439C>A	6.37:g.135306532G>T	ENSP00000356811:p.Pro480His					HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H	p.P480H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	12	1645	-	Colorectal(23;0.221)		480					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1439C>A	CCDS5173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776545|4.776545	0.90195|0.90195	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176|ENST00000529169	T;T;T;T;T;T;T|T	0.53423|0.52526	0.62;0.62;0.62;0.62;0.62;0.62;0.62|0.66	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77980|0.77980	0.4212|0.4212	H|H	0.96111|0.96111	3.77|3.77	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	0.84490|0.84490	0.0610|0.0610	10|8	0.87932|0.87932	D|D	0|0	-26.0245|-26.0245	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438;480|.	Q9Y450-4;Q9Y450|.	.;HBS1L_HUMAN|.	H|T	480;316;415;438;316;350;204|104	ENSP00000356811:P480H;ENSP00000436256:P316H;ENSP00000389826:P415H;ENSP00000356800:P438H;ENSP00000356798:P316H;ENSP00000434533:P350H;ENSP00000415305:P204H|ENSP00000436472:P104T	ENSP00000356798:P316H|ENSP00000436472:P104T	P|P	-|-	2|1	0|0	HBS1L|HBS1L	135348225|135348225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.190000|7.190000	0.77755|0.77755	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.353	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			22	619	1	0	1.10513e-12	1	1.18868e-12	22	619					T	135306532	G	T	135306532	3	4	79	1	0	0	0	0	1	0	0	0	7017	1232	43	3	643	3	HBS1L	6	135306532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18940	135306532	35808535	7863	18180											
HBS1L	10767	broad.mit.edu	37	chr6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttagactcctgttcatacTtatgcatagttcttttgttt	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	294	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(880-882)aAg>aTg		HBS1-like (S. cerevisiae)							186	181	183					6																	135317999		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135317999T>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.881A>T	6.37:g.135317999T>A	ENSP00000356811:p.Lys294Met					HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M	p.K294M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	7	1087	-	Colorectal(23;0.221)		294					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.881A>T	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111168	0.94339	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90160	0.4227	10	0.87932	D	0	-23.4431	16.4288	0.83833	0.0:0.0:0.0:1.0	.	252;294	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	294;130;229;252;130;164;18;130;130	ENSP00000356811:K294M;ENSP00000436256:K130M;ENSP00000389826:K229M;ENSP00000356800:K252M;ENSP00000356798:K130M;ENSP00000434533:K164M;ENSP00000415305:K18M;ENSP00000436620:K130M;ENSP00000432092:K130M	ENSP00000356798:K130M	K	-	2	0	HBS1L	135359692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.282000	0.76494	0.533000	0.62120	AAG		0.388	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			170	664	0	0	0	1	0	170	664					A	135317999	T	A	135317999	3	1	79	1	0	0	0	0	1	0	0	0	7017	1609	56	5	1221	5	HBS1L	6	135317999	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11467	135317999	35797068	7864	18181											
MYB	4602	broad.mit.edu	37	chr6	135518322	135518322	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaggcacagcacaattcCactggtcatccttcgaaaaa	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518322C>A	ENST00000367814.4	+	9	1389				MYB_ENST00000442647.2_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000341911.5_Missense_Mutation_p.P476Q|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						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)			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)		AGCACAATTCCACTGGTCATC	0.527			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1426-1428)cCa>cAa		v-myb avian myeloblastosis viral oncogene homolog							111	98	102					6																	135518322		1568	3582	5150	SO:0001627	intron_variant	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.chr6:135518322C>A		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.1203+1182C>A	6.37:g.135518322C>A						MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q	p.P476Q	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	10	1626	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	449					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1427C>A	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026785	0.75390	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.19938	2.14;2.15;2.11	5.93	5.93	0.95920	.	0.464052	0.21217	N	0.078202	T	0.34600	0.0903	L	0.43923	1.385	0.80722	D	1	P;P;D	0.89917	0.883;0.868;1.0	B;B;D	0.91635	0.299;0.312;0.999	T	0.02167	-1.1202	10	0.56958	D	0.05	-9.8942	20.3539	0.98825	0.0:1.0:0.0:0.0	.	473;460;476	E9PNL6;E9PNA4;P10242-4	.;.;.	Q	476;473;460	ENSP00000339992:P476Q;ENSP00000434723:P473Q;ENSP00000432851:P460Q	ENSP00000339992:P476Q	P	+	2	0	MYB	135560015	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.530000	0.73816	2.826000	0.97356	0.655000	0.94253	CCA		0.527	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			49	265	1	0	1.21353e-23	1	1.38083e-23	49	265					A	135518322	C	A	135518322	1	1	79	0	1	0	0	0	0	0	0	0	10048	594	21	3		3	MYB	6	135518322	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200323	135518322	35596745	7865	18182											
MYB	4602	broad.mit.edu	37	chr6	135518382	135518382	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttagccactggagactgtaGctccttcatatttgctgacg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518382G>T	ENST00000367814.4	+	9	1389				MYB_ENST00000442647.2_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000341911.5_Missense_Mutation_p.S496I|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						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)			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)		GGAGACTGTAGCTCCTTCATA	0.532			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1486-1488)aGc>aTc		v-myb avian myeloblastosis viral oncogene homolog							74	70	71					6																	135518382		1568	3582	5150	SO:0001627	intron_variant	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.chr6:135518382G>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.1203+1242G>T	6.37:g.135518382G>T						MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I	p.S496I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	10	1686	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	449					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1487G>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839625	0.51057	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.13538	2.58;2.58;2.58	5.78	3.98	0.46160	.	0.238779	0.48767	D	0.000176	T	0.06371	0.0164	L	0.38175	1.15	0.58432	D	0.999993	P;P;P	0.41569	0.612;0.472;0.755	B;B;B	0.41813	0.188;0.189;0.367	T	0.17440	-1.0369	10	0.48119	T	0.1	-0.9723	11.033	0.47785	0.2008:0.0:0.7992:0.0	.	493;480;496	E9PNL6;E9PNA4;P10242-4	.;.;.	I	496;493;480	ENSP00000339992:S496I;ENSP00000434723:S493I;ENSP00000432851:S480I	ENSP00000339992:S496I	S	+	2	0	MYB	135560075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	1.457000	0.47850	0.655000	0.94253	AGC		0.532	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			43	255	1	0	1.32136e-16	1	1.45297e-16	43	255					T	135518382	G	T	135518382	1	4	79	0	1	0	0	0	0	0	0	0	10048	971	34	3		3	MYB	6	135518382	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	135518382	35596685	7866	18183											
AHI1	54806	broad.mit.edu	37	chr6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatattcttccattgtgggaGaaatcaagacaaaaacatcc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	617					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CATTGTGGGAGAAATCAAGAC	0.378																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(1849-1851)ttC>ttA		Abelson helper integration site 1							65	61	62					6																	135763781		1864	4102	5966	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135763781G>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1851C>A	6.37:g.135763781G>T	ENSP00000356774:p.Phe617Leu					AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	12	2067	-	Breast(56;0.239)|Colorectal(23;0.24)		617					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1851C>A	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356206|4.356206	0.82243|0.82243	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.96|5.96	5.1|5.1	0.69264|0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.997;0.998;0.996|.	T|T	0.63184|0.63184	-0.6694|-0.6694	10|5	0.72032|.	D|.	0.01|.	-10.329|-10.329	14.8195|14.8195	0.70062|0.70062	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	617;617;617|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	L|Y	617|117	ENSP00000356774:F617L;ENSP00000388650:F617L;ENSP00000265602:F617L;ENSP00000322478:F617L|.	ENSP00000265602:F617L|.	F|S	-|-	3|2	2|0	AHI1|AHI1	135805474|135805474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.705000|3.705000	0.54823|0.54823	1.536000|1.536000	0.49237|0.49237	-0.136000|-0.136000	0.14681|0.14681	TTC|TCT		0.378	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		16	50	1	0	2.31682e-05	1	2.36778e-05	16	50					T	135763781	G	T	135763781	3	4	79	1	0	0	0	0	1	0	0	0	413	933	33	3	1860	3	AHI1	6	135763781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245399	135763781	35351286	7867	18184											
AHI1	54806	broad.mit.edu	37	chr6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggataaaccgggctatctCggcttgttatttcatgaaca	10	8	2	1	rs139944375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGGGCTATCTCGGCTTGTTAT	0.358																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(985-987)cGa>cAa		Abelson helper integration site 1							170	163	166					6																	135778797		1911	4114	6025	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135778797C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.986G>A	6.37:g.135778797C>T	ENSP00000356774:p.Arg329Gln					AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	1202	-	Breast(56;0.239)|Colorectal(23;0.24)		329					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.986G>A	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801309	0.31869	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57752	0.43;0.43;0.43;0.38	5.5	-3.68	0.04463	.	1.206670	0.05757	N	0.604317	T	0.20292	0.0488	L	0.60455	1.87	0.24048	N	0.996058	B;B	0.20261	0.043;0.026	B;B	0.12837	0.008;0.002	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.1692	2.7604	0.05305	0.1077:0.226:0.1783:0.488	.	329;329	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	329	ENSP00000356774:R329Q;ENSP00000388650:R329Q;ENSP00000265602:R329Q;ENSP00000322478:R329Q	ENSP00000265602:R329Q	R	-	2	0	AHI1	135820490	0.693000	0.27728	0.826000	0.32828	0.433000	0.31745	-0.024000	0.12435	-0.422000	0.07405	0.460000	0.39030	CGA		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		95	417	0	0	0	1	0	95	417					T	135778797	C	T	135778797	3	4	79	1	0	0	0	0	1	0	0	0	413	884	31	1	2745	1	AHI1	6	135778797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	135778797	35336270	7868	18185											
PDE7B	27115	broad.mit.edu	37	chr6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccctgtcggagaacatgCtgggccacctcgcacacaac	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	403	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1207-1209)Ctg>Atg		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						55	46	49					6																	136512832		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136512832C>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1207C>A	6.37:g.136512832C>A	ENSP00000310661:p.Leu403Met					RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	p.L403M	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	13	1510	+	Colorectal(23;0.24)		403			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1207C>A	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951377	0.18431	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.79247	-1.25	5.17	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.136413	0.50627	D	0.000107	T	0.64713	0.2623	N	0.25094	0.71	0.50467	D	0.999878	P;P	0.50617	0.937;0.669	B;P	0.54238	0.335;0.746	T	0.64198	-0.6464	10	0.31617	T	0.26	.	10.5121	0.44868	0.0:0.8508:0.0:0.1492	.	455;403	A1E5M1;Q9NP56	.;PDE7B_HUMAN	M	403;539	ENSP00000310661:L403M	ENSP00000310661:L403M	L	+	1	2	PDE7B	136554525	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	0.687000	0.25407	2.569000	0.86673	0.655000	0.94253	CTG		0.612	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			12	122	1	0	2.27111e-07	1	2.35674e-07	12	122					A	136512832	C	A	136512832	3	1	79	1	0	0	0	0	1	0	0	0	11694	796	28	3	1257	3	PDE7B	6	136512832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734035	136512832	34602235	7869	18186											
BCLAF1	9774	broad.mit.edu	37	chr6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattccttgtaatcttttGgagttttttcctgctttctt	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	727					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAATCTTTTGGAGTTTTTTC	0.383																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2179-2181)cCa>cTa		BCL2-associated transcription factor 1							110	105	107					6																	136590614		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590614G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2180C>T	6.37:g.136590614G>A	ENSP00000435210:p.Pro727Leu					BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L	p.P727L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2432	-	Colorectal(23;0.24)		727					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2180C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814670	0.32053	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14640	4.35;4.35;4.35;2.49;4.35;4.35	4.82	3.89	0.44902	.	0.582086	0.15264	N	0.271612	T	0.04543	0.0124	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.027;0.062;0.027;0.004	B;B;B;B	0.16289	0.006;0.015;0.006;0.006	T	0.16988	-1.0384	10	0.56958	D	0.05	0.3182	12.8904	0.58068	0.0:0.0:0.7217:0.2783	.	725;725;727;554	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	727;725;727;554;725;725	ENSP00000435210:P727L;ENSP00000229446:P725L;ENSP00000435441:P727L;ENSP00000436501:P554L;ENSP00000434826:P725L;ENSP00000376159:P725L	ENSP00000229446:P725L	P	-	2	0	BCLAF1	136632307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.393000	0.81446	0.591000	0.81541	CCA		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	383	0	0	0	1	0	14	383					A	136590614	G	A	136590614	3	1	79	1	0	0	0	0	1	0	0	0	1384	1348	47	2	602	2	BCLAF1	6	136590614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77782	136590614	34524453	7870	18187											
BCLAF1	9774	broad.mit.edu	37	chr6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgattttcttctttaaAaactctctcttcccctgcta	2	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000529917.1_5'Flank|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	675					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTTTAAAAACTCTCTCT	0.303																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2023-2025)Ttt>Gtt		BCL2-associated transcription factor 1							77	78	78					6																	136593153		2203	4296	6499	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136593153A>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2023T>G	6.37:g.136593153A>C	ENSP00000435210:p.Phe675Val					BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V	p.F675V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	8	2275	-	Colorectal(23;0.24)		675					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2023T>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280241	0.59758	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000006	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P;B;P;B	0.34587	0.458;0.264;0.458;0.244	B;B;B;B	0.39119	0.291;0.069;0.291;0.056	T	0.42982	-0.9419	10	0.11794	T	0.64	-9.1069	10.344	0.43895	0.8534:0.0:0.0:0.1466	.	673;673;675;502	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	675;673;675;502;673;673;674	ENSP00000435210:F675V;ENSP00000229446:F673V;ENSP00000435441:F675V;ENSP00000436501:F502V;ENSP00000434826:F673V;ENSP00000376159:F673V;ENSP00000431734:F674V	ENSP00000229446:F673V	F	-	1	0	BCLAF1	136634846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.025000	0.59659	0.482000	0.46254	TTT		0.303	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		39	319	0	0	0	1	0	39	319					C	136593153	A	C	136593153	3	2	79	1	0	0	0	0	1	0	0	0	1384	14	1	4	763	4	BCLAF1	6	136593153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2539	136593153	34521914	7871	18188											
BCLAF1	9774	broad.mit.edu	37	chr6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcctcctcagtattcCggtgagatgcagtagcaaaa	9	11	1	1	rs369285091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	429					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCAGTATTCCGGTGAGATGC	0.403																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1285-1287)cGg>cAg		BCL2-associated transcription factor 1		C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	211	207	209		1280,,1286	5.2	1	6		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,,probably-damaging	427/870,,429/921	136597377	2,13004	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597377C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1286G>A	6.37:g.136597377C>T	ENSP00000435210:p.Arg429Gln					BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	p.R429Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1538	-	Colorectal(23;0.24)		429					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1286G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649123	0.47362	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000027	T	0.03305	0.0096	N	0.08118	0	0.44079	D	0.996831	P;P;P	0.44578	0.838;0.838;0.838	B;B;B	0.31614	0.133;0.133;0.133	T	0.44019	-0.9355	10	0.41790	T	0.15	-4.7974	19.2213	0.93797	0.0:1.0:0.0:0.0	.	427;427;429	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Q	429;427;429;427;427;429	ENSP00000435210:R429Q;ENSP00000229446:R427Q;ENSP00000435441:R429Q;ENSP00000434826:R427Q;ENSP00000376159:R427Q;ENSP00000431734:R429Q	ENSP00000229446:R427Q	R	-	2	0	BCLAF1	136639070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.194000	0.58393	2.615000	0.88500	0.650000	0.86243	CGG		0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		116	1207	0	0	0	1	0	116	1207					T	136597377	C	T	136597377	3	4	79	1	0	0	0	0	1	0	0	0	1384	652	23	1	1512	1	BCLAF1	6	136597377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	136597377	34517690	7872	18189											
MAP7	9053	broad.mit.edu	37	chr6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagttttggtcgatccatcGaatttctagagtgtgcagct	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	268					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512																																						ENST00000354570.3																			1	Substitution - Missense(1)	p.S268L(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(802-804)tCg>tTg		microtubule-associated protein 7							206	180	189					6																	136693712		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136693712G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.803C>T	6.37:g.136693712G>A	ENSP00000346581:p.Ser268Leu					MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L	p.S268L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	8	1213	-	Colorectal(23;0.24)		268					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.803C>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	MAP7	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG		0.512	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		65	264	0	0	0	1	0	65	264					A	136693712	G	A	136693712	3	1	79	1	0	0	0	0	1	0	0	0	9307	1059	37	1	1490	1	MAP7	6	136693712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96335	136693712	34421355	7873	18190											
MAP7	9053	broad.mit.edu	37	chr6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacatatttcgaaagaTtcatggtggaaactgaccgc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000438100.2_Intron	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	186					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTCGAAAGATTCATGGTGGA	0.413																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(556-558)aAt>aGt		microtubule-associated protein 7							119	114	116					6																	136704889		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136704889T>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.557A>G	6.37:g.136704889T>C	ENSP00000346581:p.Asn186Ser					MAP7_ENST00000438100.2_Intron|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000432797.2_Missense_Mutation_p.N40S	p.N186S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	6	967	-	Colorectal(23;0.24)		186					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.557A>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286674	0.59867	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000008	T	0.17408	0.0418	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.985;0.996;0.991	T	0.03863	-1.0997	10	0.22706	T	0.39	-20.3185	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;171;208;208;92;186	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	S	186;208;171;40;92	ENSP00000346581:N186S;ENSP00000414712:N208S;ENSP00000445737:N171S;ENSP00000414879:N40S	ENSP00000344217:N92S	N	-	2	0	MAP7	136746582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	AAT		0.413	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		72	284	0	0	0	1	0	72	284					C	136704889	T	C	136704889	3	2	79	1	0	0	0	0	1	0	0	0	9307	1493	52	4	1744	4	MAP7	6	136704889	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11177	136704889	34410178	7874	18191											
PEX7	5191	broad.mit.edu	37	chr6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggacttaaggaatGtacgacaaccagtgtttgaa	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000318471.4	+	7	772	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	231					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(691-693)Gta>Ata		peroxisomal biogenesis factor 7							248	249	249					6																	137191085		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191085G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.691G>A	6.37:g.137191085G>A	ENSP00000315680:p.Val231Ile					PEX7_ENST00000318471.4_Missense_Mutation_p.V231I	p.V231I			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	777	+	Colorectal(23;0.24)		231					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.691G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274149	0.23221	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.81078	-1.45;-1.45	5.84	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.393088	0.27807	N	0.017771	T	0.47229	0.1434	N	0.20401	0.57	0.31429	N	0.673373	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.22109	T	0.4	-31.2596	10.1468	0.42769	0.2279:0.0:0.7721:0.0	.	231	O00628	PEX7_HUMAN	I	231	ENSP00000441004:V231I;ENSP00000315680:V231I	ENSP00000315680:V231I	V	+	1	0	PEX7	137232778	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.641000	0.37197	1.456000	0.47831	0.591000	0.81541	GTA		0.363	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		101	1144	0	0	0	1	0	101	1144					A	137191085	G	A	137191085	3	1	79	1	0	0	0	0	1	0	0	0	11793	1377	48	2	717	2	PEX7	6	137191085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486196	137191085	33923982	7875	18192											
PEX7	5191	broad.mit.edu	37	chr6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaccctgcttgtcttaCtattcctgcttgagatacac	6	12	1	2	rs185417185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	320					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358																																						ENST00000318471.4																			0				lung(7)|prostate(1)	8						c.(958-960)aCt>aAt		peroxisomal biogenesis factor 7							244	230	234					6																	137234651		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137234651C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.959C>A	6.37:g.137234651C>A	ENSP00000315680:p.Thr320Asn					PEX7_ENST00000541292.1_3'UTR	p.T320N	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	10	1040	+	Colorectal(23;0.24)		320					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.959C>A	CCDS5180.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.607	0.112873	0.08831	.	.	ENSG00000112357	ENST00000318471	T	0.64085	-0.08	5.34	2.13	0.27403	WD40-repeat-containing domain (1);	0.610740	0.18092	N	0.151942	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19582	-1.0301	10	0.25751	T	0.34	-22.7369	8.2003	0.31421	0.0:0.607:0.3023:0.0907	.	320	O00628	PEX7_HUMAN	N	320	ENSP00000315680:T320N	ENSP00000315680:T320N	T	+	2	0	PEX7	137276344	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.710000	0.25748	1.223000	0.43536	-0.499000	0.04595	ACT		0.358	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		130	563	1	0	2.70824e-66	1	3.42657e-66	130	563					A	137234651	C	A	137234651	3	1	79	1	0	0	0	0	1	0	0	0	11793	565	20	3	997	3	PEX7	6	137234651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43566	137234651	33880416	7876	18193											
IL20RA	53832	broad.mit.edu	37	chr6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaagtcctggcacactGcttctcagaaggctgagcac	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000316649.5	-	5	938	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	235	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGCACACTGCTTCTCAGAA	0.517																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(370-372)Cag>Tag		interleukin 20 receptor, alpha							94	94	94					6																	137329757		2203	4300	6503	SO:0001587	stop_gained	53832					integral to membrane	receptor activity	g.chr6:137329757G>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.703C>T	6.37:g.137329757G>A	ENSP00000314976:p.Gln235*					IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Nonsense_Mutation_p.Q235*	p.Q124*			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	956	-	Colorectal(23;0.24)		235			Fibronectin type-III 1.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Nonsense_Mutation	SNP	ENST00000316649.5	37	c.370C>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	41	8.882033	0.98988	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.82	5.82	0.92795	.	0.536313	0.20891	N	0.083840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5671	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	235;124;186	.	ENSP00000314976:Q235X	Q	-	1	0	IL20RA	137371450	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.230000	0.32612	2.751000	0.94390	0.650000	0.86243	CAG		0.517	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		130	521	0	0	0	1	0	130	521					A	137329757	G	A	137329757	4	1	79	1	0	0	0	0	0	1	0	0	7698	1328	46	2	970	2	IL20RA	6	137329757	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95106	137329757	33785310	7877	18194											
IFNGR1	3459	broad.mit.edu	37	chr6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttctggagtgatcactcTcagaacaatttctggagtga	9	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1210-1212)gAg>gGg		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						78	78	78					6																	137519427		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519427T>C		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1211A>G	6.37:g.137519427T>C	ENSP00000356713:p.Glu404Gly					IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	p.E404G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1332	-	Colorectal(23;0.24)		404					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.1211A>G	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111371	0.56398	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72167	-0.63;-0.48	5.99	4.84	0.62591	.	1.612290	0.03414	N	0.205248	T	0.37100	0.0991	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.15484	0.013;0.006	T	0.34527	-0.9825	10	0.51188	T	0.08	.	8.0449	0.30542	0.0:0.0881:0.0:0.9119	.	376;404	F5H5M7;P15260	.;INGR1_HUMAN	G	404;376	ENSP00000356713:E404G;ENSP00000443282:E376G	ENSP00000356713:E404G	E	-	2	0	IFNGR1	137561120	0.962000	0.33011	0.941000	0.38009	0.841000	0.47740	2.407000	0.44565	2.297000	0.77311	0.496000	0.49642	GAG		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			48	245	0	0	0	1	0	48	245					C	137519427	T	C	137519427	3	2	79	1	0	0	0	0	1	0	0	0	7579	1551	54	4	262	4	IFNGR1	6	137519427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	189670	137519427	33595640	7878	18195											
OLIG3	167826	broad.mit.edu	37	chr6	137814750	137814750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagatgagagcgcgccGcccaagatggggtgcaccgg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	186					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(556-558)ggC>ggT		oligodendrocyte transcription factor 3							15	18	17					6																	137814750		2195	4285	6480	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814750G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.558C>T	6.37:g.137814750G>A							p.G186G	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	781	-	Breast(32;0.165)|Colorectal(23;0.24)		186					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.558C>T	CCDS5186.1																																																																																				0.726	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		12	102	0	0	0	1	0	12	102					A	137814750	G	A	137814750	2	1	79	1	0	0	0	0	0	0	0	1	10904	1074	38	1		1	OLIG3	6	137814750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295323	137814750	33300317	7879	18196											
OLIG3	167826	broad.mit.edu	37	chr6	137814819	137814819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccggccgagtggcccacGgtcccgcagtgaaaggccga	16	14	0	1	rs550760506	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814819G>A	ENST00000367734.2	-	1	712	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	163					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGCCCACGGTCCCGCAGT	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		14694	0.002		0.0	False		,,,				2504	0.0					ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(487-489)acC>acT		oligodendrocyte transcription factor 3							32	34	33					6																	137814819		2203	4300	6503	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814819G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.489C>T	6.37:g.137814819G>A							p.T163T	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	712	-	Breast(32;0.165)|Colorectal(23;0.24)		163					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.489C>T	CCDS5186.1																																																																																				0.667	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		28	218	0	0	0	1	0	28	218					A	137814819	G	A	137814819	2	1	79	1	0	0	0	0	0	0	0	1	10904	1103	39	1		1	OLIG3	6	137814819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	137814819	33300248	7880	18197											
OLIG3	167826	broad.mit.edu	37	chr6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgctgtaggtcctgctccGacagctgcttcttgattttg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	77					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(229-231)tCg>tTg		oligodendrocyte transcription factor 3							131	109	117					6																	137815078		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815078G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.230C>T	6.37:g.137815078G>A	ENSP00000356708:p.Ser77Leu						p.S77L	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	453	-	Breast(32;0.165)|Colorectal(23;0.24)		77					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.230C>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565225	0.65651	.	.	ENSG00000177468	ENST00000367734	T	0.72725	-0.68	5.44	5.44	0.79542	.	0.084158	0.49916	D	0.000135	T	0.45357	0.1338	N	0.19112	0.55	0.58432	D	0.999999	B	0.34329	0.449	B	0.24701	0.055	T	0.56727	-0.7931	10	0.66056	D	0.02	-3.4036	19.2352	0.93856	0.0:0.0:1.0:0.0	.	77	Q7RTU3	OLIG3_HUMAN	L	77	ENSP00000356708:S77L	ENSP00000356708:S77L	S	-	2	0	OLIG3	137856771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	2.534000	0.85438	0.591000	0.81541	TCG		0.602	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		125	586	0	0	0	1	0	125	586					A	137815078	G	A	137815078	3	1	79	1	0	0	0	0	1	0	0	0	10904	1059	37	1	592	1	OLIG3	6	137815078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	137815078	33299989	7881	18198											
OLIG3	167826	broad.mit.edu	37	chr6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcggtggtggtggtcCctcaggtacatctcatccat	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	23					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(67-69)agG>agT		oligodendrocyte transcription factor 3							51	55	54					6																	137815239		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815239C>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.69G>T	6.37:g.137815239C>A	ENSP00000356708:p.Arg23Ser						p.R23S	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	292	-	Breast(32;0.165)|Colorectal(23;0.24)		23					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.69G>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824495	0.32237	.	.	ENSG00000177468	ENST00000367734	D	0.99394	-5.82	5.55	2.91	0.33838	.	0.150750	0.43747	D	0.000533	D	0.90669	0.7073	N	0.04508	-0.205	0.40100	D	0.976369	B	0.22800	0.075	B	0.17098	0.017	D	0.87028	0.2133	10	0.05525	T	0.97	-8.7311	11.6786	0.51444	0.0:0.7315:0.0:0.2685	.	23	Q7RTU3	OLIG3_HUMAN	S	23	ENSP00000356708:R23S	ENSP00000356708:R23S	R	-	3	2	OLIG3	137856932	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.372000	0.20467	0.975000	0.38392	0.591000	0.81541	AGG		0.577	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		97	398	1	0	4.35598e-54	1	5.43542e-54	97	398					A	137815239	C	A	137815239	3	1	79	1	0	0	0	0	1	0	0	0	10904	622	22	3	753	3	OLIG3	6	137815239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	137815239	33299828	7882	18199											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcagcaccagcctccCtccttcctgtcaccagcgtt	6	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	556	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1666-1668)cCt>cAt		tumor necrosis factor, alpha-induced protein 3							80	86	84					6																	138200249		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200249C>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1667C>A	6.37:g.138200249C>A	ENSP00000237289:p.Pro556His						p.P556H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1733	+	Breast(32;0.135)|Colorectal(23;0.24)		556			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1667C>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573974	0.13623	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.31510	1.49	5.66	3.89	0.44902	.	0.686361	0.15795	N	0.244243	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.05273	-1.0895	10	0.72032	D	0.01	-12.5527	8.7343	0.34519	0.0:0.7492:0.0:0.2508	.	556	P21580	TNAP3_HUMAN	H	556	ENSP00000237289:P556H	ENSP00000237289:P556H	P	+	2	0	TNFAIP3	138241942	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.342000	0.19926	0.753000	0.32945	-0.258000	0.10820	CCT		0.602	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			90	364	1	0	1.84514e-49	1	2.28236e-49	90	364					A	138200249	C	A	138200249	3	1	79	1	0	0	0	0	1	0	0	0	16326	681	24	3	1689	3	TNFAIP3	6	138200249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385010	138200249	32914818	7883	18200											
PERP	64065	broad.mit.edu	37	chr6	138417631	138417631	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctgctctaccccacGctgcaagaaaaaaagaaaca	7	14	1	2	rs565134593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	72					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21525	0.0		0.0	False		,,,				2504	0.0					ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.e2-1		PERP, TP53 apoptosis effector							45	45	45					6																	138417631		2203	4300	6503	SO:0001630	splice_region_variant	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138417631G>A	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.215-1C>T	6.37:g.138417631G>A							p.A72_splice	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	2	385	-	Breast(32;0.0799)|Colorectal(23;0.24)		72					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Splice_Site	SNP	ENST00000421351.3	37	c.214_splice	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241875	0.58995	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.89123	-2.47	5.5	5.5	0.81552	.	0.458938	0.23404	N	0.048548	D	0.86694	0.5994	L	0.36672	1.1	0.58432	D	0.999997	D	0.65815	0.995	P	0.56514	0.8	D	0.86284	0.1669	10	0.42905	T	0.14	.	13.6399	0.62243	0.0:0.2003:0.7997:0.0	.	72	Q96FX8	PERP_HUMAN	V	72;54	ENSP00000397157:A72V	ENSP00000265603:A54V	A	-	2	0	PERP	138459324	1.000000	0.71417	0.942000	0.38095	0.026000	0.11368	3.975000	0.56859	2.758000	0.94735	0.561000	0.74099	GCG		0.443	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121	Missense_Mutation	22	72	0	0	0	1	0	22	72					A	138417631	G	A	138417631	5	1	79	1	0	0	0	0	0	0	1	0	11774	1101	38	1	374	1	PERP	6	138417631	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217382	138417631	32697436	7884	18201											
KIAA1244	57221	broad.mit.edu	37	chr6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggagtcggactctgCgtctccgggagtgtctgacc	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGACTCTGCGTCTCCGGGA	0.597																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(880-882)gCg>gTg		KIAA1244							91	82	85					6																	138576683		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576683C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.881C>T	6.37:g.138576683C>T	ENSP00000251691:p.Ala294Val						p.A294V	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	1047	+	Breast(32;0.135)		294						Missense_Mutation	SNP	ENST00000251691.4	37	c.881C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356982	0.11239	.	.	ENSG00000112379	ENST00000251691	T	0.18657	2.2	5.57	3.8	0.43715	.	0.540113	0.21282	N	0.077130	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.13853	T	0.58	-19.3915	5.4561	0.16592	0.1404:0.6416:0.0:0.218	.	294	Q5TH69	BIG3_HUMAN	V	294	ENSP00000251691:A294V	ENSP00000251691:A294V	A	+	2	0	KIAA1244	138618376	0.028000	0.19301	0.022000	0.16811	0.010000	0.07245	2.061000	0.41403	0.726000	0.32339	0.655000	0.94253	GCG		0.597	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		65	309	0	0	0	1	0	65	309					T	138576683	C	T	138576683	3	4	79	1	0	0	0	0	1	0	0	0	8247	768	27	1	919	1	KIAA1244	6	138576683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159052	138576683	32538384	7885	18202											
KIAA1244	57221	broad.mit.edu	37	chr6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttagttattggccaaAatctacaaaatgcccttgaa	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATTGGCCAAAATCTACAAAA	0.373																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(4210-4212)aaA>aaC		KIAA1244							50	50	50					6																	138634943		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138634943A>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4212A>C	6.37:g.138634943A>C	ENSP00000251691:p.Lys1404Asn						p.K1404N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	26	4378	+	Breast(32;0.135)		1404						Missense_Mutation	SNP	ENST00000251691.4	37	c.4212A>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026643	0.54683	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.03	1.44	0.22558	.	0.108147	0.64402	D	0.000009	T	0.16642	0.0400	L	0.44542	1.39	0.45439	D	0.998411	D	0.67145	0.996	P	0.62740	0.906	T	0.02320	-1.1177	10	0.33940	T	0.23	-28.0464	8.1894	0.31359	0.7768:0.0:0.2232:0.0	.	1404	Q5TH69	BIG3_HUMAN	N	1404	ENSP00000251691:K1404N	ENSP00000251691:K1404N	K	+	3	2	KIAA1244	138676636	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.455000	0.35190	0.022000	0.15160	0.533000	0.62120	AAA		0.373	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		21	149	0	0	0	1	0	21	149					C	138634943	A	C	138634943	3	2	79	1	0	0	0	0	1	0	0	0	8247	11	1	4	4314	4	KIAA1244	6	138634943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58260	138634943	32480124	7886	18203											
KIAA1244	57221	broad.mit.edu	37	chr6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttctctgggaaagaaAccccttccgaggatgacaga	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAAAGAAACCCCTTCCGA	0.647																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5878-5880)Acc>Gcc		KIAA1244							20	20	20					6																	138655861		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655861A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5878A>G	6.37:g.138655861A>G	ENSP00000251691:p.Thr1960Ala						p.T1960A	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6044	+	Breast(32;0.135)		1960						Missense_Mutation	SNP	ENST00000251691.4	37	c.5878A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286561	0.59867	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.22134	1.97	5.87	5.87	0.94306	.	1.991490	0.01726	N	0.028617	T	0.13841	0.0335	L	0.34521	1.04	0.80722	D	1	P	0.51351	0.944	B	0.43950	0.437	T	0.18085	-1.0348	10	0.25106	T	0.35	-33.4121	16.2646	0.82568	1.0:0.0:0.0:0.0	.	1960	Q5TH69	BIG3_HUMAN	A	1960;125	ENSP00000251691:T1960A	ENSP00000251691:T1960A	T	+	1	0	KIAA1244	138697554	1.000000	0.71417	0.121000	0.21740	0.182000	0.23217	9.092000	0.94157	2.243000	0.73865	0.443000	0.29094	ACC		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		34	126	0	0	0	1	0	34	126					G	138655861	A	G	138655861	3	3	79	1	0	0	0	0	1	0	0	0	8247	43	2	4	6008	4	KIAA1244	6	138655861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20918	138655861	32459206	7887	18204											
KIAA1244	57221	broad.mit.edu	37	chr6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccctcagtgtctcgGtgagagacgcagaagcacag	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGTGTCTCGGTGAGAGACGC	0.652																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6316-6318)Gtg>Ttg		KIAA1244							13	14	14					6																	138656299		2201	4298	6499	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138656299G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6316G>T	6.37:g.138656299G>T	ENSP00000251691:p.Val2106Leu						p.V2106L	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6482	+	Breast(32;0.135)		2106						Missense_Mutation	SNP	ENST00000251691.4	37	c.6316G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971814	0.18736	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.15952	2.38	5.76	4.89	0.63831	.	0.717553	0.14079	N	0.342873	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.20519	T	0.43	-28.9434	8.9898	0.36017	0.2707:0.0:0.7293:0.0	.	2106	Q5TH69	BIG3_HUMAN	L	2106;147	ENSP00000251691:V2106L	ENSP00000251691:V2106L	V	+	1	0	KIAA1244	138697992	0.501000	0.26099	0.002000	0.10522	0.968000	0.65278	2.325000	0.43840	1.434000	0.47414	0.511000	0.50034	GTG		0.652	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	53	1	0	2.0095e-06	1	2.07161e-06	6	53					T	138656299	G	T	138656299	3	4	79	1	0	0	0	0	1	0	0	0	8247	1261	44	3	6446	3	KIAA1244	6	138656299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438	138656299	32458768	7888	18205											
KIAA1244	57221	broad.mit.edu	37	chr6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgagagacgcagaaGcacagatccaggtacatccc	11	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACGCAGAAGCACAGATCCA	0.647																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6331-6333)Gca>Aca		KIAA1244							12	13	13					6																	138656314		2201	4295	6496	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138656314G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6331G>A	6.37:g.138656314G>A	ENSP00000251691:p.Ala2111Thr						p.A2111T	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6497	+	Breast(32;0.135)		2111						Missense_Mutation	SNP	ENST00000251691.4	37	c.6331G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377621	0.82682	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.76	4.89	0.63831	.	0.280376	0.40469	N	0.001093	T	0.09069	0.0224	L	0.32530	0.975	0.50039	D	0.99984	B	0.18461	0.028	B	0.12837	0.008	T	0.04128	-1.0975	10	0.56958	D	0.05	-16.5692	14.6602	0.68865	0.0698:0.0:0.9302:0.0	.	2111	Q5TH69	BIG3_HUMAN	T	2111;152	ENSP00000251691:A2111T	ENSP00000251691:A2111T	A	+	1	0	KIAA1244	138698007	1.000000	0.71417	0.018000	0.16275	0.978000	0.69477	9.181000	0.94874	1.439000	0.47511	0.511000	0.50034	GCA		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		7	50	0	0	0	1	0	7	50					A	138656314	G	A	138656314	3	1	79	1	0	0	0	0	1	0	0	0	8247	971	34	2	6461	2	KIAA1244	6	138656314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	138656314	32458753	7889	18206											
CCDC28A	25901	broad.mit.edu	37	chr6	139097399	139097399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacagtcaacttcacagCgaccaaagttaaaaaggtga	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139097399C>T	ENST00000332797.6	+	2	567	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	138										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AACTTCACAGCGACCAAAGTT	0.358																																						ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(412-414)Cga>Tga		coiled-coil domain containing 28A							94	88	90					6																	139097399		2203	4300	6503	SO:0001587	stop_gained	25901							g.chr6:139097399C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.412C>T	6.37:g.139097399C>T	ENSP00000332716:p.Arg138*						p.R138*	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	567	+			138					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Nonsense_Mutation	SNP	ENST00000332797.6	37	c.412C>T	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	37	6.371234	0.97511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	.	.	.	5.79	-0.143	0.13444	.	0.280729	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6938	17.2014	0.86907	0.8113:0.1887:0.0:0.0	.	.	.	.	X	138;25	.	ENSP00000026464:R25X	R	+	1	2	CCDC28A	139139092	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.706000	0.37878	0.033000	0.15463	0.561000	0.74099	CGA		0.358	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		11	388	0	0	0	1	0	11	388					T	139097399	C	T	139097399	4	4	79	1	0	0	0	0	0	1	0	0	2809	760	27	1	418	1	CCDC28A	6	139097399	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441085	139097399	32017668	7890	18207											
ECT2L	345930	broad.mit.edu	37	chr6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgattggctgggatcccaAtggggaaaggccccctcttc	13	11	1	1	rs373325471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	439							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGATCCCAATGGGGAAAGG	0.428			"N, Splice, Mis"		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1315-1317)caA>caC		epithelial cell transforming sequence 2 oncogene-like							69	67	68					6																	139186158		1860	4095	5955	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139186158A>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1317A>C	6.37:g.139186158A>C	ENSP00000387388:p.Gln439His					ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H	p.Q439H			Q008S8	ECT2L_HUMAN			11	1478	+			439					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1317A>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	4.105	0.017592	0.07959	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75154	0.2;0.2;-0.91	5.08	-5.87	0.02297	.	2.073900	0.05119	U	0.490444	T	0.26702	0.0653	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05370	-1.0889	10	0.30854	T	0.27	8.4498	1.4937	0.02461	0.4252:0.1031:0.2543:0.2174	.	370;439	F5H7S9;Q008S8	.;ECT2L_HUMAN	H	439;439;370	ENSP00000387388:Q439H;ENSP00000356655:Q439H;ENSP00000442307:Q370H	ENSP00000356655:Q439H	Q	+	3	2	ECT2L	139227851	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.178000	0.09782	-1.061000	0.03185	-0.462000	0.05337	CAA		0.428	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		62	269	0	0	0	1	0	62	269					C	139186158	A	C	139186158	3	2	79	1	0	0	0	0	1	0	0	0	4918	98	4	4	1355	4	ECT2L	6	139186158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88759	139186158	31928909	7891	18208											
REPS1	85021	broad.mit.edu	37	chr6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagcccctacctgtggtgaCtgtaaaggtccgattcatat	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	571	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1711-1713)Gtc>Ttc		RALBP1 associated Eps domain containing 1							114	106	109					6																	139237004		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139237004C>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1711G>T	6.37:g.139237004C>A	ENSP00000392065:p.Val571Phe					REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F	p.V571F			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	14	2285	-			571			Pro-rich.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1711G>T		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694080	0.68386	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.31769	1.5;1.49;1.48;1.5;1.51	5.96	5.96	0.96718	.	0.055755	0.64402	D	0.000001	T	0.16471	0.0396	L	0.33485	1.01	0.51233	D	0.999911	P;P;P;P	0.43477	0.773;0.716;0.664;0.808	B;B;B;B	0.40534	0.332;0.232;0.178;0.312	T	0.01500	-1.1339	10	0.52906	T	0.07	-8.3031	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	570;519;571;544	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	571;544;529;570;544;519	ENSP00000392065:V571F;ENSP00000356635:V544F;ENSP00000434251:V529F;ENSP00000258062:V570F;ENSP00000397941:V544F	ENSP00000258062:V570F	V	-	1	0	REPS1	139278697	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.398000	0.66308	2.832000	0.97577	0.655000	0.94253	GTC		0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			74	321	1	0	2.93416e-43	1	3.58019e-43	74	321					A	139237004	C	A	139237004	3	1	79	1	0	0	0	0	1	0	0	0	13278	565	20	3	707	3	REPS1	6	139237004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50846	139237004	31878063	7892	18209											
REPS1	85021	broad.mit.edu	37	chr6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaactggatgaacaataGcagtatcctagagacaaatg	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	449					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1345-1347)gCt>gAt		RALBP1 associated Eps domain containing 1							103	98	99					6																	139242254		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139242254G>T		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1346C>A	6.37:g.139242254G>T	ENSP00000392065:p.Ala449Asp					REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D	p.A449D			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	11	1920	-			449					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1346C>A		.	.	.	.	.	.	.	.	.	.	G	31	5.064595	0.93898	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.35605	1.43;1.32;1.3;1.46;1.44;1.33	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.979;0.998	D;D;D;P;D	0.85130	0.983;0.972;0.997;0.718;0.994	T	0.10567	-1.0624	10	0.13853	T	0.58	-16.3376	19.4156	0.94697	0.0:0.0:1.0:0.0	.	449;397;422;449;422	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	D	449;422;408;422;449;422;397;36	ENSP00000392065:A449D;ENSP00000356635:A422D;ENSP00000434251:A408D;ENSP00000386699:A422D;ENSP00000258062:A449D;ENSP00000397941:A422D	ENSP00000258062:A449D	A	-	2	0	REPS1	139283947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.595000	0.87683	0.557000	0.71058	GCT		0.383	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			55	212	1	0	2.76378e-25	1	3.16915e-25	55	212					T	139242254	G	T	139242254	3	4	79	1	0	0	0	0	1	0	0	0	13278	971	34	3	1084	3	REPS1	6	139242254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5250	139242254	31872813	7893	18210											
REPS1	85021	broad.mit.edu	37	chr6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataactactggattgcctacGaatttcaatggcagttgtag	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(805-807)Cgt>Tgt		RALBP1 associated Eps domain containing 1							152	137	142					6																	139265101		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139265101G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.805C>T	6.37:g.139265101G>A	ENSP00000392065:p.Arg269Cys					REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C	p.R269C			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	6	1379	-			269					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.805C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513044	0.85389	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32988	1.44;1.43;1.45;1.45;1.43;1.43	6.01	6.01	0.97437	.	0.048115	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;D;P	0.63488	0.851;0.897;0.915;0.794	T	0.13019	-1.0525	10	0.59425	D	0.04	-11.6175	20.5211	0.99222	0.0:0.0:1.0:0.0	.	269;269;269;269	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	269;269;255;269;269;269;217	ENSP00000392065:R269C;ENSP00000356635:R269C;ENSP00000434251:R255C;ENSP00000386699:R269C;ENSP00000258062:R269C;ENSP00000397941:R269C	ENSP00000258062:R269C	R	-	1	0	REPS1	139306794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CGT		0.363	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			44	235	0	0	0	1	0	44	235					A	139265101	G	A	139265101	3	1	79	1	0	0	0	0	1	0	0	0	13278	1058	37	1	1645	1	REPS1	6	139265101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	139265101	31849966	7894	18211											
HECA	51696	broad.mit.edu	37	chr6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgggaagccggtgatcGacgtgaggatcgggatgcag	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	503					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1507-1509)Gac>Aac		headcase homolog (Drosophila)							139	112	121					6																	139498117		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139498117G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1507G>A	6.37:g.139498117G>A	ENSP00000356630:p.Asp503Asn					RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	p.D503N	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	4	1792	+			503						Missense_Mutation	SNP	ENST00000367658.2	37	c.1507G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586932	0.96578	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51356	-0.8716	9	0.25106	T	0.35	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	503	Q9UBI9	HDC_HUMAN	N	503	.	ENSP00000356630:D503N	D	+	1	0	HECA	139539810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAC		0.547	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		28	123	0	0	0	1	0	28	123					A	139498117	G	A	139498117	3	1	79	1	0	0	0	0	1	0	0	0	7068	1058	37	1	1521	1	HECA	6	139498117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233016	139498117	31616950	7895	18212											
TXLNB	167838	broad.mit.edu	37	chr6	139563819	139563819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttctgctgcgcatgcTggagcaggcacatctgcctc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1897-1899)ccA>ccG		taxilin beta							78	83	81					6																	139563819		2203	4300	6503	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563819T>C		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1899A>G	6.37:g.139563819T>C						RP1-225E12.3_ENST00000585874.1_RNA	p.P633P	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2131	-			633					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.1899A>G	CCDS34545.1																																																																																				0.647	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		117	556	0	0	0	1	0	117	556					C	139563819	T	C	139563819	2	2	79	1	0	0	0	0	0	0	0	1	16842	1567	55	4		4	TXLNB	6	139563819	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65702	139563819	31551248	7896	18213											
TXLNB	167838	broad.mit.edu	37	chr6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcactgcctccttcgGcttcagcctgaggagttagg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	565						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1693-1695)gCc>gTc		taxilin beta							48	52	51					6																	139564024		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564024G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1694C>T	6.37:g.139564024G>A	ENSP00000351206:p.Ala565Val					RP1-225E12.3_ENST00000585874.1_RNA	p.A565V	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1926	-			565					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1694C>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.07	2.3	0.28687	.	1.392830	0.04153	N	0.321664	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37911	-0.9685	9	.	.	.	0.428	5.143	0.14969	0.1847:0.1703:0.645:0.0	.	565	Q8N3L3	TXLNB_HUMAN	V	565	ENSP00000351206:A565V	.	A	-	2	0	TXLNB	139605717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.300000	0.22699	0.655000	0.94253	GCC		0.602	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		31	357	0	0	0	1	0	31	357					A	139564024	G	A	139564024	3	1	79	1	0	0	0	0	1	0	0	0	16842	1203	42	2	364	2	TXLNB	6	139564024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	139564024	31551043	7897	18214											
TXLNB	167838	broad.mit.edu	37	chr6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcagattttgcattaGcaggttggcttctttgcctt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	148						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(442-444)Cta>Ata		taxilin beta							90	89	89					6																	139598041		2202	4298	6500	SO:0001583	missense	167838					cytoplasm		g.chr6:139598041G>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.442C>A	6.37:g.139598041G>T	ENSP00000351206:p.Leu148Ile					RP11-445F6.2_ENST00000441249.1_RNA	p.L148I	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	3	674	-			148					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.442C>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469088	0.63625	.	.	ENSG00000164440	ENST00000358430	T	0.39997	1.05	5.06	4.18	0.49190	.	0.067702	0.64402	N	0.000011	T	0.49695	0.1572	M	0.82323	2.585	0.38835	D	0.955921	D	0.63880	0.993	D	0.65573	0.936	T	0.56836	-0.7913	9	.	.	.	-10.2692	6.224	0.20698	0.1497:0.0:0.6965:0.1538	.	148	Q8N3L3	TXLNB_HUMAN	I	148	ENSP00000351206:L148I	.	L	-	1	2	TXLNB	139639734	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.799000	0.55529	1.235000	0.43724	0.555000	0.69702	CTA		0.353	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		38	158	1	0	2.24893e-16	1	2.47056e-16	38	158					T	139598041	G	T	139598041	3	4	79	1	0	0	0	0	1	0	0	0	16842	962	34	3	1644	3	TXLNB	6	139598041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34017	139598041	31517026	7898	18215											
CITED2	10370	broad.mit.edu	37	chr6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagcttctgcagctgCatgctggccggcagggagcc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	114					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(340-342)atG>atA		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							93	104	100					6																	139694740		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694740C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.342G>A	6.37:g.139694740C>T	ENSP00000356623:p.Met114Ile					CITED2_ENST00000536159.1_Missense_Mutation_p.M114I|CITED2_ENST00000537332.1_Missense_Mutation_p.M114I	p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	557	-	Breast(32;0.226)		114					O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.342G>A	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400326	0.42613	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.69685	-0.42;-0.42;-0.42	5.18	5.18	0.71444	.	0.121048	0.51477	D	0.000081	T	0.59335	0.2186	M	0.62723	1.935	0.80722	D	1	P	0.48162	0.906	B	0.43575	0.424	T	0.62595	-0.6821	9	.	.	.	-3.6977	18.6953	0.91599	0.0:1.0:0.0:0.0	.	114	Q99967	CITE2_HUMAN	I	114	ENSP00000356623:M114I;ENSP00000442831:M114I;ENSP00000444198:M114I	.	M	-	3	0	CITED2	139736433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.431000	0.82371	0.462000	0.41574	ATG		0.642	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			72	291	0	0	0	1	0	72	291					T	139694740	C	T	139694740	3	4	79	1	0	0	0	0	1	0	0	0	3449	710	25	2	474	2	CITED2	6	139694740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96699	139694740	31420327	7899	18216											
CITED2	10370	broad.mit.edu	37	chr6	139695019	139695019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggtgggcagggtgatgGtgcagcccattggtgccgtc	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	21	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(61-63)caC>caT		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							43	40	41					6																	139695019		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139695019G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.63C>T	6.37:g.139695019G>A						CITED2_ENST00000536159.1_Silent_p.H21H|CITED2_ENST00000537332.1_Silent_p.H21H	p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	278	-	Breast(32;0.226)		21			His-rich.		O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.63C>T	CCDS5195.1																																																																																				0.622	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			36	153	0	0	0	1	0	36	153					A	139695019	G	A	139695019	2	1	79	1	0	0	0	0	0	0	0	1	3449	1252	44	2		2	CITED2	6	139695019	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279	139695019	31420048	7900	18217											
NMBR	4829	broad.mit.edu	37	chr6	142396962	142396962	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggctgttgaaatgcctCctgaagctttcactgagtag	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	332					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(994-996)agG>agA		neuromedin B receptor							107	102	104					6																	142396962		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142396962C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.996G>A	6.37:g.142396962C>T						NMBR_ENST00000480652.1_5'UTR	p.R332R	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1136	-	Breast(32;0.155)		332					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.996G>A	CCDS5196.1																																																																																				0.488	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			79	372	0	0	0	1	0	79	372					T	142396962	C	T	142396962	2	4	79	1	0	0	0	0	0	0	0	1	10529	854	30	2		2	NMBR	6	142396962	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2701943	142396962	28718105	7901	18218											
NMBR	4829	broad.mit.edu	37	chr6	142409766	142409766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcgcgccggtggtcacCgagaggttggaaagagactt	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	10					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(28-30)tcG>tcA		neuromedin B receptor							28	30	29					6																	142409766		2203	4299	6502	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409766C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.30G>A	6.37:g.142409766C>T						RP11-137J7.2_ENST00000454401.1_RNA	p.S10S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	170	-	Breast(32;0.155)		10					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.30G>A	CCDS5196.1																																																																																				0.617	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			40	139	0	0	0	1	0	40	139					T	142409766	C	T	142409766	2	4	79	1	0	0	0	0	0	0	0	1	10529	639	23	1		1	NMBR	6	142409766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	142409766	28705301	7902	18219											
GPR126	57211	broad.mit.edu	37	chr6	142691376	142691377	+	Frame_Shift_Ins	INS	-	-	A													gcttaccaggtatctgttgcINSaaaaagcatctctattccag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142691376_142691377insA	ENST00000230173.6	+	4	991_992	c.515_516insA	c.(514-519)gcaaaafs	p.AK172fs	GPR126_ENST00000296932.8_Frame_Shift_Ins_p.AK172fs|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Frame_Shift_Ins_p.AK172fs|GPR126_ENST00000367608.2_Frame_Shift_Ins_p.AK172fs	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	172	Pentaxin.				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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTATCTGTTGCAAAAAGCATCT	0.421																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(514-516)gaafs		G protein-coupled receptor 126																																				SO:0001589	frameshift_variant	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691376_142691377insA	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.520dupA	6.37:g.142691381_142691381dupA	ENSP00000230173:p.Ala172fs					GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000367608.2_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000296932.8_Frame_Shift_Ins_p.E172fs	p.E172fs	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	991_992	+	Breast(32;0.176)		172			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Frame_Shift_Ins	INS	ENST00000230173.6	37	c.515_516insA	CCDS47490.1																																																																																				0.421	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			14	176						14	176	---	---	---	---	A	142691377	-	A	142691376	7	5	79	1	0	1	1	0	0	0	0	0	6669	710	25	0	529	0	GPR126	6	142691376	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	281610	142691376	28423691	7903	18220											
HIVEP2	3097	broad.mit.edu	37	chr6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggctgaggtacaggGctgacctggctcaggtctac	17	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367604.1	-	9	7777	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGGTACAGGGCTGACCTGGC	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7138-7140)Ccc>Acc		human immunodeficiency virus type I enhancer binding protein 2							121	124	123					6																	143074447		2068	4202	6270	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074447G>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7138C>A	6.37:g.143074447G>T	ENSP00000356576:p.Pro2380Thr					RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T	p.P2380T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7880	-			2380					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.7138C>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752422	0.03041	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02177	4.41;4.41;4.41	5.78	3.89	0.44902	.	0.365525	0.29646	N	0.011573	T	0.00524	0.0017	N	0.08118	0	0.26332	N	0.977501	B	0.06786	0.001	B	0.04013	0.001	T	0.48822	-0.9001	10	0.24483	T	0.36	-9.7779	11.1307	0.48345	0.0:0.2168:0.5767:0.2064	.	2380	P31629	ZEP2_HUMAN	T	2380	ENSP00000356576:P2380T;ENSP00000356575:P2380T;ENSP00000012134:P2380T	ENSP00000012134:P2380T	P	-	1	0	HIVEP2	143116140	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.515000	0.22801	1.431000	0.47355	0.655000	0.94253	CCC		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			118	540	1	0	4.53158e-46	1	5.56357e-46	118	540					T	143074447	G	T	143074447	3	4	79	1	0	0	0	0	1	0	0	0	7217	1203	42	3	206	3	HIVEP2	6	143074447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383071	143074447	28040620	7904	18221											
HIVEP2	3097	broad.mit.edu	37	chr6	143081626	143081626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggactggtgcttctTgatcttgtttttggtgttaa	13	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367604.1	-	8	6438	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000367603.2_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGTGCTTCTTGATCTTGTTT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5797-5799)tcA>tcG		human immunodeficiency virus type I enhancer binding protein 2							63	67	66					6																	143081626		2029	4181	6210	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081626T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5799A>G	6.37:g.143081626T>C						HIVEP2_ENST00000367604.1_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S	p.S1933S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6541	-			1933					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.5799A>G	CCDS43510.1																																																																																				0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			20	225	0	0	0	1	0	20	225					C	143081626	T	C	143081626	2	2	79	1	0	0	0	0	0	0	0	1	7217	1799	63	4		4	HIVEP2	6	143081626	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7179	143081626	28033441	7905	18222											
HIVEP2	3097	broad.mit.edu	37	chr6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtttctgtatcatccaccGatgtcattgagactcccaat	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367604.1	-	7	6230	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCATCCACCGATGTCATTGA	0.403																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5590-5592)tCg>tTg		human immunodeficiency virus type I enhancer binding protein 2							188	177	180					6																	143082630		1893	4120	6013	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143082630G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5591C>T	6.37:g.143082630G>A	ENSP00000356576:p.Ser1864Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L	p.S1864L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	8	6333	-			1864					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5591C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708935	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54077	-0.8347	10	0.72032	D	0.01	-16.1067	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1864	P31629	ZEP2_HUMAN	L	1864	ENSP00000356576:S1864L;ENSP00000356575:S1864L;ENSP00000012134:S1864L	ENSP00000012134:S1864L	S	-	2	0	HIVEP2	143124323	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.812000	0.75226	2.668000	0.90789	0.563000	0.77884	TCG		0.403	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			162	725	0	0	0	1	0	162	725					A	143082630	G	A	143082630	3	1	79	1	0	0	0	0	1	0	0	0	7217	1059	37	1	1761	1	HIVEP2	6	143082630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	143082630	28032437	7906	18223											
HIVEP2	3097	broad.mit.edu	37	chr6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcttcctttactgtgcGggctcagaaggttgagcgat	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367604.1	-	4	1808	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	390					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.P390Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTACTGTGCGGGCTCAGAAG	0.443																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.P390Q(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(1168-1170)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 2							131	127	128					6																	143094707		1898	4122	6020	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094707G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1169C>T	6.37:g.143094707G>A	ENSP00000356576:p.Pro390Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L	p.P390L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1911	-			390					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1169C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277436	0.80580	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	10	0.87932	D	0	-23.2456	20.0844	0.97795	0.0:0.0:1.0:0.0	.	390	P31629	ZEP2_HUMAN	L	390	ENSP00000356576:P390L;ENSP00000356575:P390L;ENSP00000012134:P390L	ENSP00000012134:P390L	P	-	2	0	HIVEP2	143136400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	CCG		0.443	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			145	595	0	0	0	1	0	145	595					A	143094707	G	A	143094707	3	1	79	1	0	0	0	0	1	0	0	0	7217	1116	39	1	6195	1	HIVEP2	6	143094707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12077	143094707	28020360	7907	18224											
ADAT2	134637	broad.mit.edu	37	chr6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagccacaaccaccaaatCgttcattctgacagccatat	5	14	2	2	rs532452116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000237283.8	-	4	403	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ADAT2_ENST00000606514.1_Missense_Mutation_p.R83Q	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	130					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20425	0.0		0.0	False		,,,				2504	0.0					ENST00000606514.1																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(247-249)cGa>cAa		adenosine deaminase, tRNA-specific 2							149	135	140					6																	143753712		1921	4135	6056	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143753712C>T	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"deaminase domain containing 1", "adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.389G>A	6.37:g.143753712C>T	ENSP00000237283:p.Arg130Gln					ADAT2_ENST00000237283.8_Missense_Mutation_p.R130Q	p.R83Q			Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	4	832	-			130					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.248G>A	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718738	0.96839	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.5	5.5	0.81552	Cytidine deaminase-like (1);	0.119263	0.56097	D	0.000022	D	0.85557	0.5724	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88504	0.3084	9	0.87932	D	0	-6.0983	19.7578	0.96301	0.0:1.0:0.0:0.0	.	130	Q7Z6V5	ADAT2_HUMAN	Q	83;130	.	ENSP00000237283:R130Q	R	-	2	0	ADAT2	143795405	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.079000	0.76829	2.746000	0.94184	0.591000	0.81541	CGA		0.393	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		66	347	0	0	0	1	0	66	347					T	143753712	C	T	143753712	3	4	79	1	0	0	0	0	1	0	0	0	285	884	31	1	198	1	ADAT2	6	143753712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	659005	143753712	27361355	7908	18225											
PEX3	8504	broad.mit.edu	37	chr6	143780343	143780343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtaaccagaggacttgCaatatgacaggtaagacaga	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	65					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAGGACTTGCAATATGACAG	0.378																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(193-195)tgC>tgT		peroxisomal biogenesis factor 3							118	115	116					6																	143780343		2203	4300	6503	SO:0001819	synonymous_variant	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143780343C>T	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.195C>T	6.37:g.143780343C>T							p.C65C	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	2	258	+			65					Q6FGP5	Silent	SNP	ENST00000367591.4	37	c.195C>T	CCDS5199.1																																																																																				0.378	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			121	488	0	0	0	1	0	121	488					T	143780343	C	T	143780343	2	4	79	1	0	0	0	0	0	0	0	1	11789	718	25	2		2	PEX3	6	143780343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26631	143780343	27334724	7909	18226											
PHACTR2	9749	broad.mit.edu	37	chr6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctggccccccctctccctCttgaggatcagtgcattact	7	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	342							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTCTCCCTCTTGAGGATCA	0.582																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1024-1026)Ctt>Att		phosphatase and actin regulator 2							59	64	62					6																	144086760		2016	4154	6170	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086760C>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1024C>A	6.37:g.144086760C>A	ENSP00000391763:p.Leu342Ile					PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I	p.L342I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1154	+			342					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1024C>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723102	0.30503	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33654	1.4;1.83;1.44;1.83;1.44	5.22	2.34	0.29019	.	1.943490	0.02138	N	0.056949	T	0.13200	0.0320	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.29766	0.256;0.019;0.019;0.011	B;B;B;B	0.32289	0.143;0.015;0.015;0.007	T	0.16808	-1.0390	10	0.16896	T	0.51	.	5.5824	0.17256	0.0:0.4751:0.291:0.2338	.	353;262;273;342	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	330;342;262;353;273	ENSP00000356556:L330I;ENSP00000391763:L342I;ENSP00000305530:L262I;ENSP00000417038:L353I;ENSP00000356554:L273I	ENSP00000305530:L262I	L	+	1	0	PHACTR2	144128453	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.023000	0.13533	0.549000	0.28973	0.655000	0.94253	CTT		0.582	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		73	316	1	0	4.01556e-35	1	4.78946e-35	73	316					A	144086760	C	A	144086760	3	1	79	1	0	0	0	0	1	0	0	0	11852	913	32	3	1096	3	PHACTR2	6	144086760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306417	144086760	27028307	7910	18227											
PHACTR2	9749	broad.mit.edu	37	chr6	144086912	144086912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcaggcactggcttaagTgttaacagagaaaatgcaaa	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000367582.3_Silent_p.S323S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	392							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGGCTTAAGTGTTAACAGAG	0.458																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1174-1176)agT>agC		phosphatase and actin regulator 2							73	69	70					6																	144086912		1881	4105	5986	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086912T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1176T>C	6.37:g.144086912T>C						PHACTR2_ENST00000367582.3_Silent_p.S323S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S	p.S392S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1306	+			392					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.1176T>C	CCDS47492.1																																																																																				0.458	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		88	391	0	0	0	1	0	88	391					C	144086912	T	C	144086912	2	2	79	1	0	0	0	0	0	0	0	1	11852	1693	59	4		4	PHACTR2	6	144086912	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152	144086912	27028155	7911	18228											
PLAGL1	5325	broad.mit.edu	37	chr6	144263408	144263408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactggcacaggaagtccTtgcatcctgtgtggaccacc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	ENST00000360537.2	-	5	2458	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	182					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGAAGTCCTTGCATCCTGT	0.557											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(544-546)aAg>aCg		pleiomorphic adenoma gene-like 1							99	89	92					6																	144263408		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263408T>G	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.545A>C	6.37:g.144263408T>G	ENSP00000353734:p.Lys182Thr		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T	p.K182T			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2458	-			182					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.545A>C	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560945	0.86335	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.88	5.88	0.94601	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.76300	0.3968	M	0.80847	2.515	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	T	0.80594	-0.1313	10	0.87932	D	0	-36.5868	15.4686	0.75422	0.0:0.0:0.0:1.0	.	182	Q9UM63	PLAL1_HUMAN	T	182;182;182;182;182;182;130;130;130;182;130	ENSP00000353734:K182T;ENSP00000346810:K182T;ENSP00000400929:K182T;ENSP00000398409:K182T;ENSP00000376125:K182T;ENSP00000400060:K182T;ENSP00000392418:K130T;ENSP00000376124:K130T;ENSP00000356544:K130T;ENSP00000356543:K182T;ENSP00000395960:K130T	ENSP00000346810:K182T	K	-	2	0	PLAGL1	144305101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.989000	0.88205	2.235000	0.73313	0.533000	0.62120	AAG		0.557	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			11	441	0	0	0	1	0	11	441					G	144263408	T	G	144263408	3	3	79	1	0	0	0	0	1	0	0	0	12061	1609	56	4	850	4	PLAGL1	6	144263408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176496	144263408	26851659	7912	18229											
PLAGL1	5325	broad.mit.edu	37	chr6	144263595	144263595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagaccccacaggtgaGgtccccactgctggccgcat	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263595G>A	ENST00000360537.2	-	5	2271	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	120					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CCACAGGTGAGGTCCCCACTG	0.597											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(358-360)Ctc>Ttc		pleiomorphic adenoma gene-like 1							74	67	70					6																	144263595		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263595G>A	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.358C>T	6.37:g.144263595G>A	ENSP00000353734:p.Leu120Phe		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F	p.L120F			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2271	-			120					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.358C>T	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772300	0.90108	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.98;2.98;2.98;2.92;2.98	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000018	T	0.06962	0.0177	N	0.02751	-0.505	0.58432	D	0.999999	P	0.43519	0.809	P	0.53722	0.733	T	0.51616	-0.8683	10	0.51188	T	0.08	-42.4362	19.8676	0.96824	0.0:0.0:1.0:0.0	.	120	Q9UM63	PLAL1_HUMAN	F	120;120;120;120;120;120;68;68;68;120;68	ENSP00000353734:L120F;ENSP00000346810:L120F;ENSP00000400929:L120F;ENSP00000398409:L120F;ENSP00000376125:L120F;ENSP00000400060:L120F;ENSP00000392418:L68F;ENSP00000376124:L68F;ENSP00000356544:L68F;ENSP00000356543:L120F;ENSP00000395960:L68F	ENSP00000346810:L120F	L	-	1	0	PLAGL1	144305288	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.870000	0.87175	2.941000	0.99782	0.655000	0.94253	CTC		0.597	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			6	193	0	0	0	1	0	6	193					A	144263595	G	A	144263595	3	1	79	1	0	0	0	0	1	0	0	0	12061	1000	35	2	1037	2	PLAGL1	6	144263595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	144263595	26851472	7913	18230											
SF3B5	83443	broad.mit.edu	37	chr6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagccactcccacttggTggtgtcggcgtggcccgtgc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	27					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592																																						ENST00000367569.2																			0				lung(2)|prostate(1)	3						c.(79-81)Acc>Gcc		splicing factor 3b, subunit 5, 10kDa							87	72	77					6																	144416556		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416556T>C	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.79A>G	6.37:g.144416556T>C	ENSP00000356541:p.Thr27Ala						p.T27A	NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	198	-			27					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.79A>G	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111018	0.77210	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	.	0.093132	0.64402	D	0.000001	T	0.43765	0.1262	.	.	.	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.48703	-0.9012	8	0.72032	D	0.01	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	27	Q9BWJ5	SF3B5_HUMAN	A	27	.	ENSP00000356541:T27A	T	-	1	0	SF3B5	144458249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.799000	0.85936	2.324000	0.78689	0.533000	0.62120	ACC		0.592	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		61	259	0	0	0	1	0	61	259					C	144416556	T	C	144416556	3	2	79	1	0	0	0	0	1	0	0	0	14204	1696	59	4	185	4	SF3B5	6	144416556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152961	144416556	26698511	7914	18231											
STX11	8676	broad.mit.edu	37	chr6	144508031	144508031	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgcgacaccaactccatCgccaaggccatcaaggcccg	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	89					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCAACTCCATCGCCAAGGCCA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(265-267)atC>atT		syntaxin 11							26	27	26					6																	144508031		2203	4299	6502	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508031C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.267C>T	6.37:g.144508031C>T							p.I89I	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	450	+			89					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.267C>T	CCDS5205.1																																																																																				0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			47	190	0	0	0	1	0	47	190					T	144508031	C	T	144508031	2	4	79	1	0	0	0	0	0	0	0	1	15389	874	31	1		1	STX11	6	144508031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91475	144508031	26607036	7915	18232											
UTRN	7402	broad.mit.edu	37	chr6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcacaccagagcagtGtgggcagcgtcctgcaggca	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	366	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGAGCAGTGTGGGCAGCGT	0.443																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1096-1098)Gtg>Atg		utrophin							81	77	78					6																	144758737		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758737G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1096G>A	6.37:g.144758737G>A	ENSP00000356515:p.Val366Met						p.V366M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1096	+		Ovarian(120;0.218)	366			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1096G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912214	0.92178	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58210	0.35	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000415	T	0.74007	0.3660	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78239	-0.2281	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	366	P46939	UTRO_HUMAN	M	366	ENSP00000356515:V366M	ENSP00000356499:V366M	V	+	1	0	UTRN	144800430	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GTG		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			39	277	0	0	0	1	0	39	277					A	144758737	G	A	144758737	3	1	79	1	0	0	0	0	1	0	0	0	17157	1377	48	2	1134	2	UTRN	6	144758737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250706	144758737	26356330	7916	18233											
UTRN	7402	broad.mit.edu	37	chr6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcagcgtcctgcagGcaggcaaccaactgataaca	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	372	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGTCCTGCAGGCAGGCAACCA	0.463																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1114-1116)Gca>Aca		utrophin							95	87	90					6																	144758755		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758755G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1114G>A	6.37:g.144758755G>A	ENSP00000356515:p.Ala372Thr						p.A372T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1114	+		Ovarian(120;0.218)	372			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1114G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019322	0.93462	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.61615	0.2361	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56944	-0.7895	10	0.34782	T	0.22	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	372	P46939	UTRO_HUMAN	T	372	ENSP00000356515:A372T	ENSP00000356499:A372T	A	+	1	0	UTRN	144800448	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GCA		0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			48	278	0	0	0	1	0	48	278					A	144758755	G	A	144758755	3	1	79	1	0	0	0	0	1	0	0	0	17157	1203	42	2	1152	2	UTRN	6	144758755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	144758755	26356312	7917	18234											
UTRN	7402	broad.mit.edu	37	chr6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaactaagtgtcagtgttCgacgtctggctgtaagtgat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383																																						ENST00000367545.3																			2	Substitution - Nonsense(2)	p.R571*(2)	large_intestine(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1711-1713)Cga>Tga		utrophin							118	104	109					6																	144768443		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768443C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1711C>T	6.37:g.144768443C>T	ENSP00000356515:p.Arg571*						p.R571*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	14	1711	+		Ovarian(120;0.218)	571			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.1711C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			15	116	0	0	0	1	0	15	116					T	144768443	C	T	144768443	4	4	79	1	0	0	0	0	0	1	0	0	17157	876	31	1	1765	1	UTRN	6	144768443	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9688	144768443	26346624	7918	18235											
UTRN	7402	broad.mit.edu	37	chr6	144780066	144780066	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcttgaaaaggtcatcaaGacaaaggaggagtgggtaaa	14	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	815	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGTCATCAAGACAAAGGAGG	0.423																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2443-2445)aaG>aaA		utrophin							53	55	54					6																	144780066		2202	4300	6502	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780066G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2445G>A	6.37:g.144780066G>A							p.K815K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2445	+		Ovarian(120;0.218)	815			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.2445G>A	CCDS34547.1																																																																																				0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			48	208	0	0	0	1	0	48	208					A	144780066	G	A	144780066	2	1	79	1	0	0	0	0	0	0	0	1	17157	933	33	2		2	UTRN	6	144780066	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11623	144780066	26335001	7919	18236											
UTRN	7402	broad.mit.edu	37	chr6	145075930	145075930	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatcctctcagcattttctCtctagtaagtactaataaac	3	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2810	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCATTTTCTCTCTAGTAAGT	0.383																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8428-8430)ctC>ctA		utrophin							104	103	104					6																	145075930		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145075930C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8430C>A	6.37:g.145075930C>A						UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	p.L2810L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	56	8430	+		Ovarian(120;0.218)	2810			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8430C>A	CCDS34547.1																																																																																				0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			64	267	1	0	3.86002e-21	1	4.34116e-21	64	267					A	145075930	C	A	145075930	2	1	79	1	0	0	0	0	0	0	0	1	17157	900	32	3		3	UTRN	6	145075930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295864	145075930	26039137	7920	18237											
FBXO30	84085	broad.mit.edu	37	chr6	146126966	146126966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatccaaagcagcagccaaActtctggttgtttctacagt	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146126966A>C	ENST00000237281.4	-	2	742	c.576T>G	c.(574-576)agT>agG	p.S192R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	192							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CAGCAGCCAAACTTCTGGTTG	0.398																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(574-576)agT>agG		F-box protein 30							163	162	162					6																	146126966		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126966A>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.576T>G	6.37:g.146126966A>C	ENSP00000237281:p.Ser192Arg						p.S192R	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	742	-		Ovarian(120;0.0776)	192					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.576T>G	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649346	0.47362	.	.	ENSG00000118496	ENST00000237281	T	0.30448	1.53	5.82	4.63	0.57726	.	0.074325	0.85682	D	0.000000	T	0.35422	0.0931	L	0.58101	1.795	0.58432	D	0.999998	D	0.65815	0.995	P	0.62560	0.904	T	0.18681	-1.0329	10	0.54805	T	0.06	-23.7079	12.0806	0.53669	0.932:0.0:0.068:0.0	.	192	Q8TB52	FBX30_HUMAN	R	192	ENSP00000237281:S192R	ENSP00000237281:S192R	S	-	3	2	FBXO30	146168659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.953000	0.49105	0.984000	0.38629	0.482000	0.46254	AGT		0.398	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			15	911	0	0	0	1	0	15	911					C	146126966	A	C	146126966	3	2	79	1	0	0	0	0	1	0	0	0	5765	40	2	4	1669	4	FBXO30	6	146126966	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051036	146126966	24988101	7921	18238											
SHPRH	257218	broad.mit.edu	37	chr6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgcaccctccctatggCctgaagctcatgggcagggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367505.2	-	28	5104	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1614	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCCTATGGCCTGAAGCTCA	0.438																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4852-4854)Gcc>Acc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							90	87	88					6																	146214385		1858	4099	5957	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146214385C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4840G>A	6.37:g.146214385C>T	ENSP00000356475:p.Ala1614Thr					SHPRH_ENST00000367505.2_Missense_Mutation_p.A1614T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T	p.A1618T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	28	5250	-		Ovarian(120;0.0365)	1614			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4852G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.44	5.44	0.79542	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94992	0.8135	10	0.87932	D	0	-12.4244	19.2562	0.93947	0.0:1.0:0.0:0.0	.	1614;1618	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	36;62;1614;1618;1618;1614	ENSP00000403790:A36T;ENSP00000356475:A1614T;ENSP00000356473:A1618T;ENSP00000412797:A1618T;ENSP00000275233:A1614T	ENSP00000275233:A1614T	A	-	1	0	SHPRH	146256078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.585000	0.79938	GCC		0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		43	184	0	0	0	1	0	43	184					T	146214385	C	T	146214385	3	4	79	1	0	0	0	0	1	0	0	0	14341	739	26	2	240	2	SHPRH	6	146214385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87419	146214385	24900682	7922	18239											
SHPRH	257218	broad.mit.edu	37	chr6	146214434	146214434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaccaagagaacatgAgttgcttcaatgatagttaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367505.2	-	28	5055	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_ENST00000367503.3_Silent_p.T1601T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1597	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGAACATGAGTTGCTTCAA	0.443																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4801-4803)acT>acC		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							96	93	94					6																	146214434		1879	4102	5981	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146214434A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4791T>C	6.37:g.146214434A>G						SHPRH_ENST00000367505.2_Silent_p.T1597T|SHPRH_ENST00000275233.7_Silent_p.T1597T|SHPRH_ENST00000438092.2_Silent_p.T1601T	p.T1601T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	28	5201	-		Ovarian(120;0.0365)	1597			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.4803T>C	CCDS43513.2																																																																																				0.443	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		39	168	0	0	0	1	0	39	168					G	146214434	A	G	146214434	2	3	79	1	0	0	0	0	0	0	0	1	14341	291	11	4		4	SHPRH	6	146214434	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49	146214434	24900633	7923	18240											
SHPRH	257218	broad.mit.edu	37	chr6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggttgactttttccttTttttgtggatggaacaagct	9	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367505.2	-	9	2020	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	586					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTTTTCCTTTTTTTGTGGAT	0.373																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1756-1758)Aaa>Caa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							255	234	240					6																	146264761		1909	4122	6031	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264761T>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1756A>C	6.37:g.146264761T>G	ENSP00000356475:p.Lys586Gln					SHPRH_ENST00000367505.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q	p.K586Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2154	-		Ovarian(120;0.0365)	586					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1756A>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134688	0.21123	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	4.28	0.50868	DEAD-like helicase (1);	0.598979	0.16529	N	0.210466	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B;B;P	0.43094	0.002;0.229;0.191;0.799	B;B;B;B	0.36845	0.009;0.175;0.109;0.234	T	0.08391	-1.0724	10	0.33940	T	0.23	-11.4061	2.5385	0.04720	0.1425:0.0804:0.2966:0.4805	.	475;586;586;475	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	586;586;586;586;475	ENSP00000356475:K586Q;ENSP00000356473:K586Q;ENSP00000412797:K586Q;ENSP00000275233:K586Q	ENSP00000275233:K586Q	K	-	1	0	SHPRH	146306454	0.920000	0.31207	0.010000	0.14722	0.097000	0.18754	2.129000	0.42055	0.997000	0.38969	0.528000	0.53228	AAA		0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		152	636	0	0	0	1	0	152	636					G	146264761	T	G	146264761	3	3	79	1	0	0	0	0	1	0	0	0	14341	1850	64	4	3427	4	SHPRH	6	146264761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50327	146264761	24850306	7924	18241											
SHPRH	257218	broad.mit.edu	37	chr6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcttttgtagccaccCcaaatcttctaacatttcac	2	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367505.2	-	2	832	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTAGCCACCCCAAATCTTCT	0.378																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(568-570)Ggg>Tgg		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							117	111	113					6																	146275891		1842	4102	5944	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275891C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.568G>T	6.37:g.146275891C>A	ENSP00000356475:p.Gly190Trp					SHPRH_ENST00000367505.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W	p.G190W	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	966	-		Ovarian(120;0.0365)	190					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.568G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945785	0.53079	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	4.68	0.58851	.	0.686958	0.14236	N	0.332375	T	0.41119	0.1145	L	0.36672	1.1	0.22317	N	0.999206	D;P;P;P	0.54964	0.969;0.911;0.947;0.83	P;B;P;B	0.49528	0.614;0.39;0.594;0.311	T	0.45498	-0.9257	10	0.66056	D	0.02	-5.7981	3.7092	0.08413	0.0:0.6591:0.0:0.3409	.	79;190;190;79	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	W	190;190;190;190;79	ENSP00000356475:G190W;ENSP00000356473:G190W;ENSP00000412797:G190W;ENSP00000275233:G190W	ENSP00000275233:G190W	G	-	1	0	SHPRH	146317584	0.997000	0.39634	0.960000	0.40013	0.600000	0.36913	4.332000	0.59279	2.672000	0.90937	0.655000	0.94253	GGG		0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		71	349	1	0	6.00099e-30	1	7.02477e-30	71	349					A	146275891	C	A	146275891	3	1	79	1	0	0	0	0	1	0	0	0	14341	623	22	3	4643	3	SHPRH	6	146275891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	146275891	24839176	7925	18242											
GRM1	2911	broad.mit.edu	37	chr6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcggtggccagaatggacgGagatgtcatcattggagccc	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000282753.1	+	1	363	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000392299.2_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000492807.2_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGAATGGACGGAGATGTCATC	0.597																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(127-129)gGa>gTa		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						86	91	90					6																	146350781		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350781G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.128G>T	6.37:g.146350781G>T	ENSP00000282753:p.Gly43Val					GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000282753.1_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V	p.G43V			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	598	+		Ovarian(120;0.0387)	43					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.128G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637900	0.87760	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.87758	2.905	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;1.0;1.0	D	0.94539	0.7743	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	43;43;38;43	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	43	ENSP00000354896:G43V;ENSP00000376119:G43V;ENSP00000424095:G43V;ENSP00000282753:G43V;ENSP00000347437:G43V;ENSP00000425599:G43V	ENSP00000282753:G43V	G	+	2	0	GRM1	146392474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.619000	0.88677	0.561000	0.74099	GGA		0.597	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		138	607	1	0	6.25873e-39	1	7.55585e-39	138	607					T	146350781	G	T	146350781	3	4	79	1	0	0	0	0	1	0	0	0	6826	1174	41	3	130	3	GRM1	6	146350781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74890	146350781	24764286	7926	18243											
GRM1	2911	broad.mit.edu	37	chr6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtggaagccaacgggGgaatcacgataaagctgcag	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000282753.1	+	3	1244	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000392299.2_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000492807.2_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	337					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCAACGGGGGAATCACGAT	0.473																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1009-1011)Gga>Aga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						102	86	92					6																	146625805		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625805G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1009G>A	6.37:g.146625805G>A	ENSP00000282753:p.Gly337Arg					GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000282753.1_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R	p.G337R			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1479	+		Ovarian(120;0.0387)	337					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1009G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389791	0.95988	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.53249	1.67	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.999	P;D;D	0.97110	0.729;1.0;0.986	D	0.88521	0.3096	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	337;337;337	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	337	ENSP00000354896:G337R;ENSP00000376119:G337R;ENSP00000424095:G337R;ENSP00000282753:G337R;ENSP00000347437:G337R;ENSP00000425599:G337R	ENSP00000282753:G337R	G	+	1	0	GRM1	146667498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA		0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		24	151	0	0	0	1	0	24	151					A	146625805	G	A	146625805	3	1	79	1	0	0	0	0	1	0	0	0	6826	1233	43	2	1019	2	GRM1	6	146625805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275024	146625805	24489262	7927	18244											
GRM1	2911	broad.mit.edu	37	chr6	146678707	146678707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagctaatcgctatgaCtatgtgcacgttggaacctg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000282753.1	+	5	1714	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000392299.2_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000492807.2_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	493					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCGCTATGACTATGTGCACG	0.413																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1477-1479)gaC>gaT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						188	153	165					6																	146678707		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146678707C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1479C>T	6.37:g.146678707C>T						GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000282753.1_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D	p.D493D			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	6	1949	+		Ovarian(120;0.0387)	493					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1479C>T	CCDS5209.1																																																																																				0.413	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		68	288	0	0	0	1	0	68	288					T	146678707	C	T	146678707	2	4	79	1	0	0	0	0	0	0	0	1	6826	564	20	2		2	GRM1	6	146678707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52902	146678707	24436360	7928	18245											
GRM1	2911	broad.mit.edu	37	chr6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcaccacctctgatgTtgtccgcatgcatgttggcg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000282753.1	+	7	2799	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000392299.2_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000492807.2_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	855					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACCTCTGATGTTGTCCGCATG	0.532																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2563-2565)gTt>gGt		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						76	63	67					6																	146720739		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720739T>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2564T>G	6.37:g.146720739T>G	ENSP00000282753:p.Val855Gly					GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000282753.1_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G	p.V855G			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3034	+		Ovarian(120;0.0387)	855					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2564T>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323425	0.41096	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88586	-2.38;-2.4;-2.4;-2.38;-2.38;-2.4	5.68	5.68	0.88126	.	0.057513	0.64402	D	0.000001	D	0.84727	0.5536	M	0.79475	2.455	0.80722	D	1	B;P;P	0.39282	0.382;0.666;0.534	B;B;B	0.33339	0.149;0.162;0.149	D	0.87970	0.2736	10	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	855;855;855	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	855	ENSP00000354896:V855G;ENSP00000376119:V855G;ENSP00000424095:V855G;ENSP00000282753:V855G;ENSP00000347437:V855G;ENSP00000425599:V855G	ENSP00000282753:V855G	V	+	2	0	GRM1	146762432	1.000000	0.71417	0.099000	0.21106	0.977000	0.68977	6.169000	0.71913	2.169000	0.68431	0.477000	0.44152	GTT		0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		54	216	0	0	0	1	0	54	216					G	146720739	T	G	146720739	3	3	79	1	0	0	0	0	1	0	0	0	6826	1725	60	4	2590	4	GRM1	6	146720739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42032	146720739	24394328	7929	18246											
GRM1	2911	broad.mit.edu	37	chr6	146720792	146720792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgctccaacactttcCtcaacatcttccgaagaaag	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720792C>T	ENST00000282753.1	+	7	2852	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	GRM1_ENST00000361719.2_Missense_Mutation_p.L873F|GRM1_ENST00000392299.2_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000492807.2_Missense_Mutation_p.L873F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	873					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAACACTTTCCTCAACATCTT	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2617-2619)Ctc>Ttc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						37	33	35					6																	146720792		2196	4286	6482	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720792C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2617C>T	6.37:g.146720792C>T	ENSP00000282753:p.Leu873Phe					GRM1_ENST00000492807.2_Missense_Mutation_p.L873F|GRM1_ENST00000282753.1_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000361719.2_Missense_Mutation_p.L873F	p.L873F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3087	+		Ovarian(120;0.0387)	873					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2617C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752399	0.89753	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88664	-2.34;-2.35;-2.35;-2.34;-2.41;-2.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.994	P;D;P	0.80764	0.802;0.994;0.837	D	0.91532	0.5243	10	0.39692	T	0.17	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	873;873;873	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	F	873	ENSP00000354896:L873F;ENSP00000376119:L873F;ENSP00000424095:L873F;ENSP00000282753:L873F;ENSP00000347437:L873F;ENSP00000425599:L873F	ENSP00000282753:L873F	L	+	1	0	GRM1	146762485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.087000	0.71362	2.686000	0.91538	0.585000	0.79938	CTC		0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		25	139	0	0	0	1	0	25	139					T	146720792	C	T	146720792	3	4	79	1	0	0	0	0	1	0	0	0	6826	681	24	2	2643	2	GRM1	6	146720792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	146720792	24394275	7930	18247											
RAB32	10981	broad.mit.edu	37	chr6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctgggggcggccgccGccccagcgcccgagacccgc	16	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	16					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ggcggccgccgccccagcgcc	0.741																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(46-48)Gcc>Acc		RAB32, member RAS oncogene family							14	15	15					6																	146865053		2195	4292	6487	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865053G>A	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.46G>A	6.37:g.146865053G>A	ENSP00000356465:p.Ala16Thr						p.A16T	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	225	+		Ovarian(120;0.142)	16						Missense_Mutation	SNP	ENST00000367495.3	37	c.46G>A	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341737	0.24339	.	.	ENSG00000118508	ENST00000367495	T	0.71934	-0.61	3.91	-2.18	0.07037	.	1.151740	0.06349	N	0.709584	T	0.18425	0.0442	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.03139	-1.1068	10	0.10636	T	0.68	-0.0129	0.2257	0.00173	0.2899:0.1442:0.2731:0.2929	.	16	Q13637	RAB32_HUMAN	T	16	ENSP00000356465:A16T	ENSP00000356465:A16T	A	+	1	0	RAB32	146906746	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.855000	0.04125	-0.315000	0.08773	GCC		0.741	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		24	78	0	0	0	1	0	24	78					A	146865053	G	A	146865053	3	1	79	1	0	0	0	0	1	0	0	0	12971	1087	38	1	48	1	RAB32	6	146865053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144261	146865053	24250014	7931	18248											
STXBP5	134957	broad.mit.edu	37	chr6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgatgacaccttacActtatggaatttacgtcaga	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000321680.6	+	4	368	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000367481.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	123					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GACACCTTACACTTATGGAAT	0.348																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(367-369)cAc>cGc		syntaxin binding protein 5 (tomosyn)							101	98	99					6																	147560343		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147560343A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.368A>G	6.37:g.147560343A>G	ENSP00000321826:p.His123Arg					STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000321680.6_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R	p.H123R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	4	476	+		Ovarian(120;0.0164)	123					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.368A>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850609	0.91277	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.62364	1.74;5.19;1.74;0.03	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.80845	-0.1200	10	0.56958	D	0.05	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	123;123	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	R	123	ENSP00000356451:H123R;ENSP00000441479:H123R;ENSP00000321826:H123R;ENSP00000356450:H123R	ENSP00000321826:H123R	H	+	2	0	STXBP5	147602036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.724000	0.91462	2.152000	0.67230	0.460000	0.39030	CAC		0.348	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			70	248	0	0	0	1	0	70	248					G	147560343	A	G	147560343	3	3	79	1	0	0	0	0	1	0	0	0	15408	159	6	4	382	4	STXBP5	6	147560343	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	695290	147560343	23554724	7932	18249											
STXBP5	134957	broad.mit.edu	37	chr6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatatacatattgtcaatgTggagtccttcacactctcag	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000321680.6	+	5	512	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000367481.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	171					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGTCAATGTGGAGTCCTTC	0.383																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(511-513)gTg>gCg		syntaxin binding protein 5 (tomosyn)							123	117	119					6																	147581831		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147581831T>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.512T>C	6.37:g.147581831T>C	ENSP00000321826:p.Val171Ala					STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000321680.6_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A	p.V171A	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	5	620	+		Ovarian(120;0.0164)	171					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.512T>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715895	0.68844	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67171	1.49;4.94;1.49;-0.25	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.58428	1.81	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.76071	0.987;0.864	T	0.76788	-0.2830	10	0.56958	D	0.05	.	15.585	0.76475	0.0:0.0:0.0:1.0	.	171;171	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	A	171	ENSP00000356451:V171A;ENSP00000441479:V171A;ENSP00000321826:V171A;ENSP00000356450:V171A	ENSP00000321826:V171A	V	+	2	0	STXBP5	147623524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.071000	0.62044	0.533000	0.62120	GTG		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			73	308	0	0	0	1	0	73	308					C	147581831	T	C	147581831	3	2	79	1	0	0	0	0	1	0	0	0	15408	1696	59	4	530	4	STXBP5	6	147581831	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21488	147581831	23533236	7933	18250											
STXBP5	134957	broad.mit.edu	37	chr6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaggatttagtacttataGaccttgcacaaaatgggtaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000321680.6	+	11	1129	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000367481.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	377					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTACTTATAGACCTTGCACA	0.313																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1129-1131)Gac>Aac		syntaxin binding protein 5 (tomosyn)							124	126	125					6																	147632647		2203	4299	6502	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147632647G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1129G>A	6.37:g.147632647G>A	ENSP00000321826:p.Asp377Asn					STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000321680.6_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N	p.D377N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	11	1237	+		Ovarian(120;0.0164)	377					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1129G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284916	0.95517	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27890	2.51;2.51;2.03;1.64	5.64	5.64	0.86602	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.99;0.996	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:0.0:1.0:0.0	.	377;377;48	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	N	377;377;377;48	ENSP00000356451:D377N;ENSP00000321826:D377N;ENSP00000356450:D377N;ENSP00000179882:D48N	ENSP00000179882:D48N	D	+	1	0	STXBP5	147674340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.660000	0.90430	0.561000	0.74099	GAC		0.313	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			31	161	0	0	0	1	0	31	161					A	147632647	G	A	147632647	3	1	79	1	0	0	0	0	1	0	0	0	15408	942	33	2	1171	2	STXBP5	6	147632647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50816	147632647	23482420	7934	18251											
STXBP5	134957	broad.mit.edu	37	chr6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccagaaagtagaatgCtgtgcatcgctggagtttca	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000321680.6	+	15	1546	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000367481.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	516					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGTAGAATGCTGTGCATCGC	0.388																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1546-1548)Ctg>Atg		syntaxin binding protein 5 (tomosyn)							160	151	154					6																	147636794		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147636794C>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1546C>A	6.37:g.147636794C>A	ENSP00000321826:p.Leu516Met					STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000321680.6_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M	p.L516M	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	15	1654	+		Ovarian(120;0.0164)	516					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1546C>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966391	0.74131	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.74737	0.77;0.77;-0.87;-0.78	5.78	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.997	T	0.83308	-0.0024	10	0.54805	T	0.06	.	12.5036	0.55970	0.0:0.8648:0.0:0.1352	.	516;516;187	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	M	516;516;516;187	ENSP00000356451:L516M;ENSP00000321826:L516M;ENSP00000356450:L516M;ENSP00000179882:L187M	ENSP00000179882:L187M	L	+	1	2	STXBP5	147678487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.802000	0.34089	0.563000	0.77884	CTG		0.388	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			102	428	1	0	3.80994e-63	1	4.80671e-63	102	428					A	147636794	C	A	147636794	3	1	79	1	0	0	0	0	1	0	0	0	15408	796	28	3	1604	3	STXBP5	6	147636794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	147636794	23478273	7935	18252											
STXBP5	134957	broad.mit.edu	37	chr6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgcttgtcattgcacTgaaccttcccccagggggag	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000321680.6	+	23	2486	c.2486T>C	c.(2485-2487)cTg>cCg	p.L829P	STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000367481.3_Missense_Mutation_p.L793P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	829					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTCATTGCACTGAACCTTCCC	0.483																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2377-2379)cTg>cCg		syntaxin binding protein 5 (tomosyn)							116	101	106					6																	147680400		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680400T>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2486T>C	6.37:g.147680400T>C	ENSP00000321826:p.Leu829Pro					STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000321680.6_Missense_Mutation_p.L829P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P	p.L793P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	21	2486	+		Ovarian(120;0.0164)	829					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2378T>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.478563	0.84747	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.80616	2.505	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.66497	0.944;0.943;0.937	T	0.66160	-0.5993	10	0.87932	D	0	.	15.4235	0.75031	0.0:0.0:0.0:1.0	.	793;829;484	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	P	168;793;829;776;484;153	ENSP00000356451:L793P;ENSP00000321826:L829P;ENSP00000356450:L776P;ENSP00000179882:L484P;ENSP00000376112:L153P	ENSP00000179882:L484P	L	+	2	0	STXBP5	147722093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.047000	0.60756	0.529000	0.55759	CTG		0.483	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			48	344	0	0	0	1	0	48	344					C	147680400	T	C	147680400	3	2	79	1	0	0	0	0	1	0	0	0	15408	1580	55	4	2576	4	STXBP5	6	147680400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43606	147680400	23434667	7936	18253											
STXBP5	134957	broad.mit.edu	37	chr6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacttctatattttaggtaCtatattgaggttaaaaggtg	9	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000321680.6	+	24	2549	c.2549C>T	c.(2548-2550)aCt>aTt	p.T850I	STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000367481.3_Missense_Mutation_p.T814I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	850					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTAGGTACTATATTGAGG	0.333																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2440-2442)aCt>aTt		syntaxin binding protein 5 (tomosyn)							34	37	36					6																	147684474		2200	4298	6498	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684474C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2549C>T	6.37:g.147684474C>T	ENSP00000321826:p.Thr850Ile					STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T850I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I	p.T814I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	22	2549	+		Ovarian(120;0.0164)	850					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2441C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066018	0.55539	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.79	5.79	0.91817	.	0.101850	0.64402	D	0.000003	T	0.20740	0.0499	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.36222	0.465;0.544;0.544	B;B;B	0.34242	0.178;0.086;0.162	T	0.02411	-1.1163	10	0.35671	T	0.21	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	814;850;505	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	189;814;850;797;505;174	ENSP00000356451:T814I;ENSP00000321826:T850I;ENSP00000356450:T797I;ENSP00000179882:T505I;ENSP00000376112:T174I	ENSP00000179882:T505I	T	+	2	0	STXBP5	147726167	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.744000	0.55112	2.746000	0.94184	0.655000	0.94253	ACT		0.333	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			37	160	0	0	0	1	0	37	160					T	147684474	C	T	147684474	3	4	79	1	0	0	0	0	1	0	0	0	15408	565	20	2	2643	2	STXBP5	6	147684474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4074	147684474	23430593	7937	18254											
STXBP5	134957	broad.mit.edu	37	chr6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgggtgaactcttcactcCtgtagaaacacctgaagcac	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000321680.6	+	26	3107	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000367481.3_Missense_Mutation_p.P1000L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1036					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTCTTCACTCCTGTAGAAACA	0.353																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2998-3000)cCt>cTt		syntaxin binding protein 5 (tomosyn)							117	116	116					6																	147694892		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147694892C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3107C>T	6.37:g.147694892C>T	ENSP00000321826:p.Pro1036Leu					STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000321680.6_Missense_Mutation_p.P1036L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L	p.P1000L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	24	3107	+		Ovarian(120;0.0164)	1036					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2999C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472193	0.63737	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17854	2.33;2.25;2.45;2.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.46157	1.445	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.013;0.024;0.024	T	0.06588	-1.0818	10	0.28530	T	0.3	.	14.9973	0.71443	0.0:0.9298:0.0:0.0702	.	1000;1036;691	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	1000;1036;983;691	ENSP00000356451:P1000L;ENSP00000321826:P1036L;ENSP00000356450:P983L;ENSP00000179882:P691L	ENSP00000179882:P691L	P	+	2	0	STXBP5	147736585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.705000	0.92388	0.585000	0.79938	CCT		0.353	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			53	260	0	0	0	1	0	53	260					T	147694892	C	T	147694892	3	4	79	1	0	0	0	0	1	0	0	0	15408	681	24	2	3209	2	STXBP5	6	147694892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10418	147694892	23420175	7938	18255											
SASH1	23328	broad.mit.edu	37	chr6	148808758	148808758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttacagctcaaggaAtacgaggcccagcaccggca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	212					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCTCAAGGAATACGAGGCCC	0.483																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(634-636)gaA>gaG		SAM and SH3 domain containing 1							97	103	101					6																	148808758		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148808758A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.636A>G	6.37:g.148808758A>G							p.E212E	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	8	1111	+		Ovarian(120;0.0169)	212					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.636A>G	CCDS5212.1																																																																																				0.483	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		105	534	0	0	0	1	0	105	534					G	148808758	A	G	148808758	2	3	79	1	0	0	0	0	0	0	0	1	13898	98	4	4		4	SASH1	6	148808758	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1113866	148808758	22306309	7939	18256											
SASH1	23328	broad.mit.edu	37	chr6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgggccttgatggaatgCctggctcccctccgccttca	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	484					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATGGAATGCCTGGCTCCCC	0.537																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1450-1452)Cct>Act		SAM and SH3 domain containing 1							78	72	74					6																	148852683		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148852683C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1450C>A	6.37:g.148852683C>A	ENSP00000356437:p.Pro484Thr						p.P484T	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	1925	+		Ovarian(120;0.0169)	484					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1450C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519488	0.85495	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.051988	0.85682	D	0.000000	T	0.50786	0.1636	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.53034	-0.8495	10	0.66056	D	0.02	-16.1536	19.25	0.93921	0.0:1.0:0.0:0.0	.	465;484	Q6P4R9;O94885	.;SASH1_HUMAN	T	484;245	ENSP00000356437:P484T	ENSP00000356437:P484T	P	+	1	0	SASH1	148894376	1.000000	0.71417	0.171000	0.22900	0.073000	0.16967	4.652000	0.61454	2.560000	0.86352	0.655000	0.94253	CCT		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		18	274	1	0	5.3912e-06	1	5.54037e-06	18	274					A	148852683	C	A	148852683	3	1	79	1	0	0	0	0	1	0	0	0	13898	739	26	3	1500	3	SASH1	6	148852683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43925	148852683	22262384	7940	18257											
SASH1	23328	broad.mit.edu	37	chr6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgggggttctgtagaaagtCttcgcagttctctcagtggg	14	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	511					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTAGAAAGTCTTCGCAGTTC	0.512																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1531-1533)Ctt>Att		SAM and SH3 domain containing 1							81	73	76					6																	148852764		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148852764C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1531C>A	6.37:g.148852764C>A	ENSP00000356437:p.Leu511Ile						p.L511I	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	2006	+		Ovarian(120;0.0169)	511					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1531C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217478	0.95104	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53206	0.63	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.71206	2.165	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65541	-0.6143	10	0.54805	T	0.06	-14.2685	19.0299	0.92952	0.0:1.0:0.0:0.0	.	492;511	Q6P4R9;O94885	.;SASH1_HUMAN	I	511;272	ENSP00000356437:L511I	ENSP00000356437:L511I	L	+	1	0	SASH1	148894457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.503000	0.84419	0.655000	0.94253	CTT		0.512	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		16	215	1	0	1.99824e-07	1	2.07512e-07	16	215					A	148852764	C	A	148852764	3	1	79	1	0	0	0	0	1	0	0	0	13898	913	32	3	1581	3	SASH1	6	148852764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	148852764	22262303	7941	18258											
SASH1	23328	broad.mit.edu	37	chr6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattgtacctgaagtgCcacagaagacgaccgcctct	9	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	869					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCTGAAGTGCCACAGAAGAC	0.562																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2605-2607)Cca>Tca		SAM and SH3 domain containing 1							115	127	123					6																	148865211		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865211C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2605C>T	6.37:g.148865211C>T	ENSP00000356437:p.Pro869Ser						p.P869S	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3080	+		Ovarian(120;0.0169)	869					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2605C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632371	0.29068	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37752	1.18	5.36	5.36	0.76844	.	0.523656	0.21307	N	0.076714	T	0.18800	0.0451	L	0.51422	1.61	0.35065	D	0.761911	P;B	0.35077	0.483;0.278	B;B	0.27887	0.084;0.057	T	0.15636	-1.0430	10	0.59425	D	0.04	-14.3921	13.0516	0.58958	0.0:0.7884:0.2116:0.0	.	850;869	Q6P4R9;O94885	.;SASH1_HUMAN	S	869;630;279	ENSP00000356437:P869S	ENSP00000356437:P869S	P	+	1	0	SASH1	148906904	0.994000	0.37717	1.000000	0.80357	0.106000	0.19336	0.790000	0.26900	2.511000	0.84671	0.650000	0.86243	CCA		0.562	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		236	1042	0	0	0	1	0	236	1042					T	148865211	C	T	148865211	3	4	79	1	0	0	0	0	1	0	0	0	13898	739	26	2	2675	2	SASH1	6	148865211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12447	148865211	22249856	7942	18259											
SASH1	23328	broad.mit.edu	37	chr6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgctcactgaaaacaagCtgcacgctgaaggcatcgat	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1101					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGAAAACAAGCTGCACGCTGA	0.557																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3301-3303)Ctg>Atg		SAM and SH3 domain containing 1							34	34	34					6																	148865907		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865907C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3301C>A	6.37:g.148865907C>A	ENSP00000356437:p.Leu1101Met						p.L1101M	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3776	+		Ovarian(120;0.0169)	1101					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3301C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622732	0.46840	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.59906	0.23	5.11	0.216	0.15258	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.20986	0.625	0.33179	D	0.549298	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.12760	-1.0535	10	0.51188	T	0.08	-9.1589	6.814	0.23820	0.1209:0.5368:0.0:0.3422	.	1082;1101	Q6P4R9;O94885	.;SASH1_HUMAN	M	1101;511	ENSP00000356437:L1101M	ENSP00000356437:L1101M	L	+	1	2	SASH1	148907600	0.996000	0.38824	0.481000	0.27354	0.759000	0.43091	0.410000	0.21098	0.107000	0.17824	0.655000	0.94253	CTG		0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		11	46	1	0	4.84862e-15	1	5.28562e-15	11	46					A	148865907	C	A	148865907	3	1	79	1	0	0	0	0	1	0	0	0	13898	796	28	3	3371	3	SASH1	6	148865907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	696	148865907	22249160	7943	18260											
TAB2	23118	broad.mit.edu	37	chr6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtcctgcatctaatcCtctgtcacatacctcatctc	3	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	264					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)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(790-792)cCt>cAt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							179	163	168					6																	149699842		2203	4300	6503	SO:0001583	missense	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.chr6:149699842C>A	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.791C>A	6.37:g.149699842C>A	ENSP00000356426:p.Pro264His					TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H	p.P264H			Q9NYJ8	TAB2_HUMAN			4	1368	+			264					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.791C>A	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037412	0.08148	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78481	-1.18;-1.09;-1.14;-1.14;-1.14	6.16	6.16	0.99307	.	0.301553	0.37393	N	0.002105	T	0.55862	0.1947	L	0.29908	0.895	0.45076	D	0.998098	P;P	0.45283	0.855;0.855	B;B	0.37091	0.241;0.241	T	0.59573	-0.7429	10	0.13470	T	0.59	-7.5015	20.8598	0.99761	0.0:1.0:0.0:0.0	.	232;264	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	232;264;264;264;264	ENSP00000443206:P232H;ENSP00000376106:P264H;ENSP00000445752:P264H;ENSP00000356426:P264H;ENSP00000286332:P264H	ENSP00000286332:P264H	P	+	2	0	TAB2	149741535	0.999000	0.42202	0.416000	0.26546	0.002000	0.02628	5.594000	0.67557	2.937000	0.99478	0.650000	0.86243	CCT		0.488	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			134	643	1	0	2.98534e-63	1	3.76712e-63	134	643					A	149699842	C	A	149699842	3	1	79	1	0	0	0	0	1	0	0	0	15548	681	24	3	797	3	TAB2	6	149699842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	833935	149699842	21415225	7944	18261											
C6orf72	116254	broad.mit.edu	37	chr6	149901847	149901847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagagcagagccgccAtcttcatataaggtaaatca	7	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149901847A>G	ENST00000367419.5	+	6	826	c.705A>G	c.(703-705)ccA>ccG	p.P235P		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	235						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGAGCCGCCATCTTCATATA	0.393																																						ENST00000367419.5																			0											c.(703-705)ccA>ccG		glycoprotein integral membrane 1							81	74	76					6																	149901847		2203	4300	6503	SO:0001819	synonymous_variant	116254							g.chr6:149901847A>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.705A>G	6.37:g.149901847A>G							p.P235P	NM_138785.3	NP_620140.1					6	826	+								B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.705A>G	CCDS5216.1																																																																																				0.393	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		54	228	0	0	0	1	0	54	228					G	149901847	A	G	149901847	2	3	79	1	0	0	0	0	0	0	0	1	2378	204	8	4		4	C6orf72	6	149901847	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	202005	149901847	21213220	7945	18262											
LATS1	9113	broad.mit.edu	37	chr6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaacatatactagatcgCgatttttaatctctgagcct	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACTAGATCGCGATTTTTAAT	0.353																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3373-3375)cGc>cAc		large tumor suppressor kinase 1							94	97	96					6																	149982884		2203	4299	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149982884C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3374G>A	6.37:g.149982884C>T	ENSP00000437550:p.Arg1125His					LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	p.R1125H	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3921	-		Ovarian(120;0.0164)	1125						Missense_Mutation	SNP	ENST00000543571.1	37	c.3374G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348251	0.41599	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54479	0.57;0.57	5.65	4.76	0.60689	.	0.131649	0.34700	N	0.003744	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10245	-1.0638	9	.	.	.	.	10.7066	0.45958	0.0:0.7956:0.1334:0.071	.	1125	O95835	LATS1_HUMAN	H	1125	ENSP00000437550:R1125H;ENSP00000253339:R1125H	.	R	-	2	0	LATS1	150024577	0.994000	0.37717	0.878000	0.34440	0.938000	0.57974	2.613000	0.46351	1.345000	0.45676	0.591000	0.81541	CGC		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		72	430	0	0	0	1	0	72	430					T	149982884	C	T	149982884	3	4	79	1	0	0	0	0	1	0	0	0	8677	768	27	1	22	1	LATS1	6	149982884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81037	149982884	21132183	7946	18263											
PCMT1	5110	broad.mit.edu	37	chr6	150114741	150114741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaagagctagtagatgaCtcagtaaataatgtcaggaa	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000367380.5	+	5	561	c.354C>T	c.(352-354)gaC>gaT	p.D118D	PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000464889.1_Silent_p.D176D|RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367384.2_Silent_p.D176D	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	118					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGTAGATGACTCAGTAAATA	0.373																																						ENST00000464889.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(526-528)gaC>gaT		protein-L-isoaspartate (D-aspartate) O-methyltransferase							75	78	77					6																	150114741		2203	4299	6502	SO:0001819	synonymous_variant	5110							g.chr6:150114741C>T		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.354C>T	6.37:g.150114741C>T						PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000367380.5_Silent_p.D118D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367384.2_Silent_p.D176D	p.D176D					BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)	5	812	+		Ovarian(120;0.0907)						A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	37	c.528C>T																																																																																					0.373	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				47	212	0	0	0	1	0	47	212					T	150114741	C	T	150114741	2	4	79	1	0	0	0	0	0	0	0	1	11627	564	20	2		2	PCMT1	6	150114741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131857	150114741	21000326	7947	18264											
RAET1L	154064	broad.mit.edu	37	chr6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacagtcatagtgaagAaaagtcttttcatccacctg	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	61	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507																																						ENST00000367341.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(181-183)ttT>ttG		retinoic acid early transcript 1L							110	94	100					6																	150343282		2199	4300	6499	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150343282A>C	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.183T>G	6.37:g.150343282A>C	ENSP00000356310:p.Phe61Leu					RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L	p.F61L			Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	2	182	-		Ovarian(120;0.028)	61			MHC class I alpha-1 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.183T>G	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	a	12.84	2.058711	0.36277	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01295	5.04;5.04	1.91	0.704	0.18121	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01730	0.0055	M	0.75264	2.295	0.09310	N	1	D	0.60575	0.988	P	0.58391	0.838	T	0.44314	-0.9336	9	0.72032	D	0.01	.	3.7235	0.08466	0.7951:0.0:0.2049:0.0	.	61	Q5VY80	RET1L_HUMAN	L	61	ENSP00000356310:F61L;ENSP00000286380:F61L	ENSP00000286380:F61L	F	-	3	2	RAET1L	150384975	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-1.225000	0.02956	0.196000	0.20367	0.402000	0.26972	TTT		0.507	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		104	480	0	0	0	1	0	104	480					C	150343282	A	C	150343282	3	2	79	1	0	0	0	0	1	0	0	0	13051	243	9	4	568	4	RAET1L	6	150343282	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228541	150343282	20771785	7948	18265											
IYD	389434	broad.mit.edu	37	chr6	150715331	150715331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaatggcaagaaaaaagtCcactactacaatgagatcag	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	209					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(625-627)gtC>gtT		iodotyrosine deiodinase							134	119	124					6																	150715331		2203	4300	6503	SO:0001819	synonymous_variant	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715331C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.627C>T	6.37:g.150715331C>T						IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000500320.3_Silent_p.V209V	p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	767	+		Ovarian(120;0.028)	209					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	c.627C>T	CCDS5227.1																																																																																				0.438	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		60	337	0	0	0	1	0	60	337					T	150715331	C	T	150715331	2	4	79	1	0	0	0	0	0	0	0	1	7962	842	30	2		2	IYD	6	150715331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372049	150715331	20399736	7949	18266											
PLEKHG1	57480	broad.mit.edu	37	chr6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacacaatgcagcgagtcGcctggcatatcaatgacatg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A287T(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)		GCAGCGAGTCGCCTGGCATAT	0.517																																						ENST00000367328.1																			1	Substitution - Missense(1)	p.A287T(1)	central_nervous_system(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						c.(859-861)Gcc>Acc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							83	76	78					6																	151125824		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151125824G>A	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.859G>A	6.37:g.151125824G>A	ENSP00000351318:p.Ala287Thr					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A287T	p.A287T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	8	1171	+			287			DH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.859G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	PLEKHG1	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC		0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			66	248	0	0	0	1	0	66	248					A	151125824	G	A	151125824	3	1	79	1	0	0	0	0	1	0	0	0	12110	1087	38	1	881	1	PLEKHG1	6	151125824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410493	151125824	19989243	7950	18267											
PLEKHG1	57480	broad.mit.edu	37	chr6	151139352	151139352	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttgaaatggatgccattCgtaagttttatttccttaaa	6	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000358517.2	+	11	1523	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	438							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		GGATGCCATTCGTAAGTTTTA	0.303																																						ENST00000367328.1																			0				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						c.e12+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							135	136	136					6																	151139352		2203	4299	6502	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151139352C>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.1312+1C>T	6.37:g.151139352C>T						PLEKHG1_ENST00000358517.2_Splice_Site_p.H438_splice	p.H438_splice	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	12	1624	+			438					Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.1312_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887079	0.33348	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87334	-2.24;-2.24	5.08	3.3	0.37823	Pleckstrin homology-type (1);	0.144593	0.64402	N	0.000007	T	0.65554	0.2702	L	0.27053	0.805	0.47276	D	0.999379	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.005;0.005	T	0.58803	-0.7572	10	0.26408	T	0.33	.	11.13	0.48341	0.0:0.7922:0.0:0.2078	.	245;438;438	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Y	438	ENSP00000356297:H438Y;ENSP00000351318:H438Y	ENSP00000351318:H438Y	H	+	1	0	PLEKHG1	151181045	0.956000	0.32656	0.996000	0.52242	0.935000	0.57460	1.891000	0.39738	0.660000	0.30964	-0.122000	0.15005	CAT		0.303	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Missense_Mutation	50	324	0	0	0	1	0	50	324					T	151139352	C	T	151139352	5	4	79	1	0	0	0	0	0	0	1	0	12110	898	31	1	1350	1	PLEKHG1	6	151139352	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13528	151139352	19975715	7951	18268											
PLEKHG1	57480	broad.mit.edu	37	chr6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttatttttcagaaacaGcacaagacatccaaaaggta	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000358517.2	+	14	1664	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	485							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		TTCAGAAACAGCACAAGACAT	0.338																																						ENST00000367328.1																			0				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						c.(1453-1455)Gca>Tca		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							88	86	87					6																	151144795		2202	4299	6501	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151144795G>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.1453G>T	6.37:g.151144795G>T	ENSP00000351318:p.Ala485Ser					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A485S	p.A485S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	15	1765	+			485					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1453G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175556	0.09391	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.42	-4.03	0.04021	.	1.159500	0.06084	N	0.662442	T	0.06371	0.0164	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.009	B;B;B	0.12156	0.002;0.007;0.007	T	0.11966	-1.0566	10	0.10111	T	0.7	.	5.5225	0.16941	0.4835:0.0:0.3012:0.2153	.	292;485;485	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	S	485	ENSP00000356297:A485S;ENSP00000351318:A485S	ENSP00000351318:A485S	A	+	1	0	PLEKHG1	151186488	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.132000	0.10467	-0.714000	0.04975	-0.140000	0.14226	GCA		0.338	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			30	162	1	0	8.16721e-17	1	8.9905e-17	30	162					T	151144795	G	T	151144795	3	4	79	1	0	0	0	0	1	0	0	0	12110	971	34	3	1503	3	PLEKHG1	6	151144795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5443	151144795	19970272	7952	18269											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcaacaaaatattgtccaGtctctaagggaaaaatttca	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000358517.2	+	16	4321	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1370							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		ATATTGTCCAGTCTCTAAGGG	0.373																																						ENST00000367328.1																			0				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						c.(4108-4110)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							76	78	77					6																	151161984		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161984G>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.4110G>T	6.37:g.151161984G>T	ENSP00000351318:p.Gln1370His					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1370H	p.Q1370H	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4422	+			1370					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4110G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135406	0.77662	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71461	-0.57;-0.57	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.68952	2.095	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81629	-0.0846	10	0.87932	D	0	.	13.7983	0.63184	0.0749:0.0:0.9251:0.0	.	1177;1370	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1370	ENSP00000356297:Q1370H;ENSP00000351318:Q1370H	ENSP00000351318:Q1370H	Q	+	3	2	PLEKHG1	151203677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.369000	0.46134	0.655000	0.94253	CAG		0.373	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			78	410	1	0	1.30681e-28	1	1.52204e-28	78	410					T	151161984	G	T	151161984	3	4	79	1	0	0	0	0	1	0	0	0	12110	1020	36	3	4168	3	PLEKHG1	6	151161984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17189	151161984	19953083	7953	18270											
MTHFD1L	25902	broad.mit.edu	37	chr6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgacggacagcctcGcagacatgaaggcacggctg	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	623	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGACAGCCTCGCAGACATGAA	0.592																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1867-1869)Gca>Aca		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							76	62	66					6																	151281474		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151281474G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1867G>A	6.37:g.151281474G>A	ENSP00000356290:p.Ala623Thr						p.A623T	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	18	2141	+		Ovarian(120;0.128)	623			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1867G>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642014	0.29157	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.81	-11.6	0.00059	.	2.222680	0.01321	N	0.010929	T	0.04952	0.0133	L	0.52266	1.64	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.005	B;B;B	0.13407	0.007;0.009;0.005	T	0.15694	-1.0428	10	0.23302	T	0.38	.	4.4068	0.11413	0.1404:0.1292:0.5514:0.179	.	624;378;623	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	623	ENSP00000356290:A623T	ENSP00000356290:A623T	A	+	1	0	MTHFD1L	151323167	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-2.764000	0.00784	-3.388000	0.00173	0.460000	0.39030	GCA		0.592	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		38	166	0	0	0	1	0	38	166					A	151281474	G	A	151281474	3	1	79	1	0	0	0	0	1	0	0	0	9969	1087	38	1	1937	1	MTHFD1L	6	151281474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119490	151281474	19833593	7954	18271											
AKAP12	9590	broad.mit.edu	37	chr6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctggacaaggtcaagaGcgctaccttgtcttccaccg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000253332.1	+	3	2108	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	640					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGGTCAAGAGCGCTACCTTG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1918-1920)aGc>aAc		A kinase (PRKA) anchor protein 12							80	76	77					6																	151671445		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671445G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1919G>A	6.37:g.151671445G>A	ENSP00000253332:p.Ser640Asn					AKAP12_ENST00000253332.1_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N	p.S640N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2159	+		Ovarian(120;0.125)	640					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1919G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269256	0.80469	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15603	2.41;2.41;2.43;2.43	5.52	5.52	0.82312	.	0.000000	0.47093	D	0.000244	T	0.33265	0.0857	M	0.73962	2.25	0.42414	D	0.992611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.03969	-1.0988	10	0.54805	T	0.06	.	14.6536	0.68817	0.0:0.1452:0.8548:0.0	.	535;542;640	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	640;640;542;535	ENSP00000384537:S640N;ENSP00000253332:S640N;ENSP00000346702:S542N;ENSP00000352794:S535N	ENSP00000253332:S640N	S	+	2	0	AKAP12	151713138	0.998000	0.40836	0.872000	0.34217	0.818000	0.46254	2.910000	0.48766	2.591000	0.87537	0.650000	0.86243	AGC		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			9	208	0	0	0	1	0	9	208					A	151671445	G	A	151671445	3	1	79	1	0	0	0	0	1	0	0	0	448	971	34	2	1958	2	AKAP12	6	151671445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389971	151671445	19443622	7955	18272											
AKAP12	9590	broad.mit.edu	37	chr6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcccctgttgaagacGcagggccaacaggggccaac	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000253332.1	+	3	2680	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.A831S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTTGAAGACGCAGGGCCAAC	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			1	Substitution - Missense(1)	p.A831S(1)	lung(1)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2491-2493)Gca>Aca		A kinase (PRKA) anchor protein 12							86	97	93					6																	151672017		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672017G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2491G>A	6.37:g.151672017G>A	ENSP00000253332:p.Ala831Thr					AKAP12_ENST00000253332.1_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T	p.A831T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2731	+		Ovarian(120;0.125)	831					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2491G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792683	0.16327	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.9	-9.81	0.00487	.	1.928830	0.02486	N	0.089032	T	0.00936	0.0031	N	0.15975	0.35	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.10450	0.005;0.005;0.002	T	0.28902	-1.0029	10	0.12103	T	0.63	.	8.9057	0.35521	0.1667:0.0773:0.5969:0.1591	.	726;733;831	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	831;831;733;726	ENSP00000384537:A831T;ENSP00000253332:A831T;ENSP00000346702:A733T;ENSP00000352794:A726T	ENSP00000253332:A831T	A	+	1	0	AKAP12	151713710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.241000	0.08940	-2.735000	0.00382	-0.895000	0.02911	GCA		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			151	755	0	0	0	1	0	151	755					A	151672017	G	A	151672017	3	1	79	1	0	0	0	0	1	0	0	0	448	1087	38	1	2530	1	AKAP12	6	151672017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	151672017	19443050	7956	18273											
AKAP12	9590	broad.mit.edu	37	chr6	151672727	151672727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagaagatgtgcttcaGcctgtgcagagagcagaggc	16	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000253332.1	+	3	3390	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1067					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATGTGCTTCAGCCTGTGCAGA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3199-3201)caG>caA		A kinase (PRKA) anchor protein 12							48	52	50					6																	151672727		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672727G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3201G>A	6.37:g.151672727G>A						AKAP12_ENST00000253332.1_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q	p.Q1067Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3441	+		Ovarian(120;0.125)	1067					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.3201G>A	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			60	234	0	0	0	1	0	60	234					A	151672727	G	A	151672727	2	1	79	1	0	0	0	0	0	0	0	1	448	962	34	2		2	AKAP12	6	151672727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710	151672727	19442340	7957	18274											
ZBTB2	57621	broad.mit.edu	37	chr6	151687214	151687214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgactgctgctgcccatcGatgatgggagaatcagagat	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GCTGCCCATCGATGATGGGAG	0.567																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(985-987)atC>atT		zinc finger and BTB domain containing 2							115	107	110					6																	151687214		2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687214G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.987C>T	6.37:g.151687214G>A							p.I329I	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1127	-			329					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.987C>T	CCDS5231.1																																																																																				0.567	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		81	392	0	0	0	1	0	81	392					A	151687214	G	A	151687214	2	1	79	1	0	0	0	0	0	0	0	1	17581	1048	37	1		1	ZBTB2	6	151687214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14487	151687214	19427853	7958	18275											
ZBTB2	57621	broad.mit.edu	37	chr6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaggagtggaaacaagttCtggagacagcgaggtctgca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAAACAAGTTCTGGAGACAGC	0.582																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(613-615)Gaa>Taa		zinc finger and BTB domain containing 2							83	81	81					6																	151687588		2203	4300	6503	SO:0001587	stop_gained	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687588C>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.613G>T	6.37:g.151687588C>A	ENSP00000323183:p.Glu205*						p.E205*	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	753	-			205					A8K7C7|Q5SZ81|Q9P245	Nonsense_Mutation	SNP	ENST00000325144.4	37	c.613G>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272898	0.95429	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.47	0.54385	.	0.222278	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4356	15.4909	0.75605	0.1394:0.8606:0.0:0.0	.	.	.	.	X	205	.	ENSP00000323183:E205X	E	-	1	0	ZBTB2	151729281	1.000000	0.71417	0.462000	0.27118	0.995000	0.86356	5.102000	0.64572	1.243000	0.43853	0.561000	0.74099	GAA		0.582	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		50	277	1	0	3.21987e-24	1	3.67739e-24	50	277					A	151687588	C	A	151687588	4	1	79	1	0	0	0	0	0	1	0	0	17581	922	32	3	935	3	ZBTB2	6	151687588	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	151687588	19427479	7959	18276											
RMND1	55005	broad.mit.edu	37	chr6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaagtggttttaacattaGatgaccgattcttcggcact	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	28					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTAACATTAGATGACCGATT	0.418																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(82-84)Cta>Ata		required for meiotic nuclear division 1 homolog (S. cerevisiae)							74	65	68					6																	151766865		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766865G>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.82C>A	6.37:g.151766865G>T	ENSP00000356272:p.Leu28Ile					RMND1_ENST00000491268.1_5'UTR	p.L28I	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	204	-		Ovarian(120;0.125)	28					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.82C>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	8.615	0.890054	0.17540	.	.	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.22	4.34	0.51931	.	1.119980	0.06825	N	0.792876	T	0.16171	0.0389	N	0.14661	0.345	0.34761	D	0.732727	P;B	0.35982	0.531;0.165	B;B	0.38056	0.264;0.032	T	0.02208	-1.1195	10	0.35671	T	0.21	0.5621	12.0296	0.53390	0.0825:0.0:0.9175:0.0	.	28;28	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	28	ENSP00000356272:L28I	ENSP00000356272:L28I	L	-	1	2	RMND1	151808558	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.605000	0.24179	1.179000	0.42884	0.563000	0.77884	CTA		0.418	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		63	274	1	0	3.56336e-21	1	4.00806e-21	63	274					T	151766865	G	T	151766865	3	4	79	1	0	0	0	0	1	0	0	0	13446	933	33	3	1311	3	RMND1	6	151766865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79277	151766865	19348202	7960	18277											
C6orf97	80129	broad.mit.edu	37	chr6	151907104	151907104	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtttcaccagaaagctctCcagagggcccagaaagcaga	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151907104C>T	ENST00000239374.7	+	7	1272	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CCDC170_ENST00000367290.5_Silent_p.L391L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	391																	AGAAAGCTCTCCAGAGGGCCC	0.493																																						ENST00000367290.5																			0											c.(1171-1173)ctC>ctT		coiled-coil domain containing 170							63	60	61					6																	151907104		1878	4118	5996	SO:0001819	synonymous_variant	80129							g.chr6:151907104C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1173C>T	6.37:g.151907104C>T						CCDC170_ENST00000239374.7_Silent_p.L391L	p.L391L			Q8IYT3	CF097_HUMAN			7	1262	+			391					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1173C>T	CCDS43515.1																																																																																				0.493	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		35	89	0	0	0	1	0	35	89					T	151907104	C	T	151907104	2	4	79	1	0	0	0	0	0	0	0	1	2381	842	30	2		2	C6orf97	6	151907104	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140239	151907104	19207963	7961	18278											
ESR1	2099	broad.mit.edu	37	chr6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agagaaggaccatatccaccGagtcctggacaagatcacag	10	11	1	2	rs570661763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000206249.3	+	7	1792	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	477	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)			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)	CATATCCACCGAGTCCTGGAC	0.557																																						ENST00000440973.1																			0				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						c.(1429-1431)cGa>cTa		estrogen receptor 1	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)						113	103	107					6																	152415580		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.chr6:152415580G>T	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.1430G>T	6.37:g.152415580G>T	ENSP00000206249:p.Arg477Leu					ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000206249.3_Missense_Mutation_p.R477L|ESR1_ENST00000544394.1_Intron	p.R477L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1800	+		Ovarian(120;0.0448)	477			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1430G>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975929	0.18736	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.415582	0.26903	N	0.021920	D	0.84343	0.5451	N	0.11673	0.155	0.80722	D	1	B;B;P;P;B;B;B	0.46656	0.005;0.003;0.681;0.882;0.003;0.001;0.001	B;B;B;B;B;B;B	0.39465	0.011;0.004;0.105;0.3;0.009;0.002;0.004	D	0.87067	0.2157	10	0.08599	T	0.76	.	14.1322	0.65263	0.0:0.0:0.8499:0.1501	.	42;172;216;404;476;477;477	B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	L	477;477;365;477;477;216;405	ENSP00000405330:R477L;ENSP00000342630:R477L;ENSP00000415934:R365L;ENSP00000387500:R477L;ENSP00000206249:R477L;ENSP00000384064:R216L	ENSP00000206249:R477L	R	+	2	0	ESR1	152457273	0.915000	0.31059	0.948000	0.38648	0.986000	0.74619	2.868000	0.48436	2.555000	0.86185	0.555000	0.69702	CGA		0.557	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			103	475	1	0	1.72158e-54	1	2.14916e-54	103	475					T	152415580	G	T	152415580	3	4	79	1	0	0	0	0	1	0	0	0	5274	1058	37	3	1456	3	ESR1	6	152415580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	508476	152415580	18699487	7962	18279											
SYNE1	23345	broad.mit.edu	37	chr6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatggagaggatgatggCtttgcggtggtccacagctt	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8497					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGATGATGGCTTTGCGGTGG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25489-25491)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							98	95	96					6																	152457923		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152457923C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25489G>A	6.37:g.152457923C>T	ENSP00000356224:p.Ala8497Thr	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T	p.A8497T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	141	26090	-		Ovarian(120;0.0955)	8497					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25489G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812412	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000078	T	0.59702	0.2213	M	0.73598	2.24	0.51012	D	0.999903	D;D;D;D;P	0.60160	0.987;0.987;0.984;0.987;0.553	P;P;P;P;B	0.58660	0.843;0.843;0.757;0.843;0.256	T	0.59043	-0.7528	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	8497;8497;8449;8449;699	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8497;652;1143;8449;8497;8449;8109;3021;682;677;1442;675	ENSP00000356224:A8497T;ENSP00000441052:A652T;ENSP00000356226:A1143T;ENSP00000396024:A8449T;ENSP00000265368:A8497T;ENSP00000390975:A8449T;ENSP00000341887:A8109T;ENSP00000349276:A3021T;ENSP00000356220:A1442T;ENSP00000346701:A675T	ENSP00000265368:A8497T	A	-	1	0	SYNE1	152499616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.886000	0.63149	2.623000	0.88846	0.655000	0.94253	GCC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		66	349	0	0	0	1	0	66	349					T	152457923	C	T	152457923	3	4	79	1	0	0	0	0	1	0	0	0	15497	797	28	2	928	2	SYNE1	6	152457923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42343	152457923	18657144	7963	18280											
SYNE1	23345	broad.mit.edu	37	chr6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagccgtttgggtttcgGtactatgcaggttaacaaag	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8410					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGGTTTCGGTACTATGCAG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25228-25230)aCc>aTc		spectrin repeat containing, nuclear envelope 1							184	157	166					6																	152462355		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152462355G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25229C>T	6.37:g.152462355G>A	ENSP00000356224:p.Thr8410Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I	p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25830	-		Ovarian(120;0.0955)	8410					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25229C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035821	0.54896	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54071	0.68;4.82;1.7;0.7;0.59;0.69;0.77;2.74;1.85;4.83	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000029	T	0.68026	0.2956	M	0.74881	2.28	0.40134	D	0.97675	D;D;D;D;B	0.71674	0.996;0.996;0.998;0.996;0.399	D;D;D;D;B	0.71414	0.94;0.94;0.973;0.94;0.265	T	0.64232	-0.6456	10	0.37606	T	0.19	.	20.1277	0.97990	0.0:0.0:1.0:0.0	.	8410;8410;8362;8362;612	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8410;565;1056;8362;8410;8362;8022;2934;595;590;1355;588	ENSP00000356224:T8410I;ENSP00000441052:T565I;ENSP00000356226:T1056I;ENSP00000396024:T8362I;ENSP00000265368:T8410I;ENSP00000390975:T8362I;ENSP00000341887:T8022I;ENSP00000349276:T2934I;ENSP00000356220:T1355I;ENSP00000346701:T588I	ENSP00000265368:T8410I	T	-	2	0	SYNE1	152504048	1.000000	0.71417	0.039000	0.18376	0.534000	0.34807	6.160000	0.71862	2.755000	0.94549	0.563000	0.77884	ACC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		96	491	0	0	0	1	0	96	491					A	152462355	G	A	152462355	3	1	79	1	0	0	0	0	1	0	0	0	15497	1261	44	2	1196	2	SYNE1	6	152462355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4432	152462355	18652712	7964	18281											
SYNE1	23345	broad.mit.edu	37	chr6	152466669	152466669	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagttttacataggcctcaGggctttcggggatcattaca	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152466669G>T	ENST00000367255.5	-	138	25578				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000265368.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGGCCTCAGGGCTTTCGGG	0.463										HNSCC(10;0.0054)																												ENST00000448038.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24784-24786)cCt>cAt		spectrin repeat containing, nuclear envelope 1							115	109	111					6																	152466669		2203	4300	6503	SO:0001627	intron_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152466669G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24977-1769C>A	6.37:g.152466669G>T		HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H	p.P8262H			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	138	25386	-		Ovarian(120;0.0955)	8324					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24785C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238310	0.58886	.	.	ENSG00000131018	ENST00000423061;ENST00000448038;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T	0.53423	0.62;0.63;1.64;4.64	5.37	5.37	0.77165	.	.	.	.	.	T	0.57431	0.2053	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68943	0.961;0.819	T	0.61912	-0.6965	9	0.72032	D	0.01	.	12.9001	0.58121	0.0841:0.0:0.9159:0.0	.	8262;8262	Q8NF91-4;E9PEL9	.;.	H	8262;8262;495;490;1255;488	ENSP00000396024:P8262H;ENSP00000390975:P8262H;ENSP00000356220:P1255H;ENSP00000346701:P488H	ENSP00000318783:P495H	P	-	2	0	SYNE1	152508362	1.000000	0.71417	0.389000	0.26208	0.978000	0.69477	5.643000	0.67895	2.514000	0.84764	0.650000	0.86243	CCT		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		60	207	1	0	5.82218e-30	1	6.81768e-30	60	207					T	152466669	G	T	152466669	1	4	79	0	1	0	0	0	0	0	0	0	15497	1000	35	3		3	SYNE1	6	152466669	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4314	152466669	18648398	7965	18282											
SYNE1	23345	broad.mit.edu	37	chr6	152476174	152476174	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaatcgccacgtctcttcGattctggggcggaaaatgaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000265368.4_Silent_p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGTCTCTTCGATTCTGGGGC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23980-23982)atC>atT		spectrin repeat containing, nuclear envelope 1							78	83	81					6																	152476174		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152476174G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23982C>T	6.37:g.152476174G>A		HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000423061.1_Silent_p.I7923I	p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	133	24583	-		Ovarian(120;0.0955)	7994					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23982C>T	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	501	0	0	0	1	0	24	501					A	152476174	G	A	152476174	2	1	79	1	0	0	0	0	0	0	0	1	15497	1048	37	1		1	SYNE1	6	152476174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9505	152476174	18638893	7966	18283											
SYNE1	23345	broad.mit.edu	37	chr6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacttcacacaggttgaGgacagatgcaacacctgtac	10	11	1	2	rs201895131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7947					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACAGGTTGAGGACAGATGCA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23839-23841)Ctc>Atc		spectrin repeat containing, nuclear envelope 1							140	126	131					6																	152477184		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152477184G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23839C>A	6.37:g.152477184G>T	ENSP00000356224:p.Leu7947Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I	p.L7947I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24440	-		Ovarian(120;0.0955)	7947					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23839C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738670	0.89573	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000072	T	0.69869	0.3159	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.968	T	0.72500	-0.4274	10	0.59425	D	0.04	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	7947;7947;7876;7876;149	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7947;102;593;7876;7947;7876;7559;2471;109;104;869;102	ENSP00000356224:L7947I;ENSP00000441052:L102I;ENSP00000356226:L593I;ENSP00000396024:L7876I;ENSP00000265368:L7947I;ENSP00000390975:L7876I;ENSP00000341887:L7559I;ENSP00000349276:L2471I;ENSP00000356220:L869I;ENSP00000346701:L102I	ENSP00000265368:L7947I	L	-	1	0	SYNE1	152518877	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.722000	0.68485	2.771000	0.95319	0.650000	0.86243	CTC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		65	299	1	0	4.80186e-42	1	5.84129e-42	65	299					T	152477184	G	T	152477184	3	4	79	1	0	0	0	0	1	0	0	0	15497	1000	35	3	2687	3	SYNE1	6	152477184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1010	152477184	18637883	7967	18284											
SYNE1	23345	broad.mit.edu	37	chr6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctgctgcacggctaCcagggtctccttcagcttct	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7885					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGCTACCAGGGTCTCC	0.552										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23653-23655)Gta>Ata		spectrin repeat containing, nuclear envelope 1							72	66	68					6																	152485435		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152485435C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23653G>A	6.37:g.152485435C>T	ENSP00000356224:p.Val7885Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I	p.V7885I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	131	24254	-		Ovarian(120;0.0955)	7885					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23653G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.180579	0.94846	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56275	0.57;0.68;1.45;0.58;0.47;0.58;0.68;2.6;1.62;0.68	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000154	T	0.62233	0.2411	M	0.63428	1.95	0.80722	D	1	P;P;D;D;B	0.55605	0.673;0.673;0.965;0.972;0.215	B;P;P;P;B	0.62298	0.39;0.6;0.839;0.9;0.188	T	0.58423	-0.7639	10	0.37606	T	0.19	.	19.2685	0.93998	0.0:1.0:0.0:0.0	.	7885;7885;7814;7814;87	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7885;40;531;7814;7885;7814;7497;2409;47;42;807;40	ENSP00000356224:V7885I;ENSP00000441052:V40I;ENSP00000356226:V531I;ENSP00000396024:V7814I;ENSP00000265368:V7885I;ENSP00000390975:V7814I;ENSP00000341887:V7497I;ENSP00000349276:V2409I;ENSP00000356220:V807I;ENSP00000346701:V40I	ENSP00000265368:V7885I	V	-	1	0	SYNE1	152527128	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	4.041000	0.57339	2.555000	0.86185	0.585000	0.79938	GTA		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		89	348	0	0	0	1	0	89	348					T	152485435	C	T	152485435	3	4	79	1	0	0	0	0	1	0	0	0	15497	507	18	2	2877	2	SYNE1	6	152485435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8251	152485435	18629632	7968	18285											
SYNE1	23345	broad.mit.edu	37	chr6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctttgctttcatggCtggctttagcaagtcgttct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7847					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTTCATGGCTGGCTTTAGC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23539-23541)aGc>aTc		spectrin repeat containing, nuclear envelope 1							298	281	287					6																	152497616		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152497616C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23540G>T	6.37:g.152497616C>A	ENSP00000356224:p.Ser7847Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I	p.S7847I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	130	24141	-		Ovarian(120;0.0955)	7847					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23540G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906876	0.92107	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.67094	-0.5757	10	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	7847;7847;7776;7776;49	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7847;493;7776;7847;7776;7459;2371;9;769	ENSP00000356224:S7847I;ENSP00000356226:S493I;ENSP00000396024:S7776I;ENSP00000265368:S7847I;ENSP00000390975:S7776I;ENSP00000341887:S7459I;ENSP00000349276:S2371I;ENSP00000356220:S769I	ENSP00000265368:S7847I	S	-	2	0	SYNE1	152539309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.681000	0.84073	2.711000	0.92665	0.563000	0.77884	AGC		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		166	893	1	0	2.36154e-73	1	3.00618e-73	166	893					A	152497616	C	A	152497616	3	1	79	1	0	0	0	0	1	0	0	0	15497	797	28	3	2994	3	SYNE1	6	152497616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12181	152497616	18617451	7969	18286											
SYNE1	23345	broad.mit.edu	37	chr6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagagtcgatttggcctgCtataaagctgtaggcaaaca	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6327					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGGCCTGCTATAAAGCTG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18979-18981)aGc>aTc		spectrin repeat containing, nuclear envelope 1							136	120	125					6																	152577893		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152577893C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18980G>T	6.37:g.152577893C>A	ENSP00000356224:p.Ser6327Ile	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I	p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	102	19581	-		Ovarian(120;0.0955)	6327					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18980G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280586	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.53;0.65;2.55	5.29	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.61080	0.981;0.981;0.989	P;P;P	0.58391	0.693;0.693;0.838	T	0.64373	-0.6423	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:0.9269:0.0:0.0731	.	6327;6327;6256	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6327;6256;6327;6256;5939;851	ENSP00000356224:S6327I;ENSP00000396024:S6256I;ENSP00000265368:S6327I;ENSP00000390975:S6256I;ENSP00000341887:S5939I;ENSP00000349276:S851I	ENSP00000265368:S6327I	S	-	2	0	SYNE1	152619586	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.296000	0.33389	1.354000	0.45846	0.650000	0.86243	AGC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	419	1	0	1.76533e-06	1	1.82138e-06	32	419					A	152577893	C	A	152577893	3	1	79	1	0	0	0	0	1	0	0	0	15497	797	28	3	7666	3	SYNE1	6	152577893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80277	152577893	18537174	7970	18287											
SYNE1	23345	broad.mit.edu	37	chr6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaggtaatatggtataaaGacctaagtacttctccttct	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5388					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTATAAAGACCTAAGTAC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16162-16164)Ctt>Att		spectrin repeat containing, nuclear envelope 1							104	98	100					6																	152642447		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152642447G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16162C>A	6.37:g.152642447G>T	ENSP00000356224:p.Leu5388Ile	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I	p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	84	16763	-		Ovarian(120;0.0955)	5388					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16162C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623989	0.46840	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57273	0.5;0.5;0.41;0.5;0.48	5.47	4.6	0.57074	.	0.000000	0.50627	D	0.000102	T	0.49287	0.1548	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.45044	0.849;0.598;0.598;0.72	P;B;B;P	0.52217	0.693;0.411;0.411;0.616	T	0.52997	-0.8500	10	0.42905	T	0.14	.	9.3984	0.38417	0.0727:0.0:0.7852:0.1422	.	5388;5388;5388;5317	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5388;5317;5388;5317;5061	ENSP00000356224:L5388I;ENSP00000396024:L5317I;ENSP00000265368:L5388I;ENSP00000390975:L5317I;ENSP00000341887:L5061I	ENSP00000265368:L5388I	L	-	1	0	SYNE1	152684140	1.000000	0.71417	0.634000	0.29324	0.879000	0.50718	2.872000	0.48467	1.299000	0.44798	0.655000	0.94253	CTT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		38	172	1	0	4.92203e-23	1	5.5867e-23	38	172					T	152642447	G	T	152642447	3	4	79	1	0	0	0	0	1	0	0	0	15497	942	33	3	10556	3	SYNE1	6	152642447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64554	152642447	18472620	7971	18288											
SYNE1	23345	broad.mit.edu	37	chr6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctaggtcttctttgcCggttggcttgatgagtgggt	14	7	3	2	rs184360743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5067					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTTTGCCGGTTGGCTTG	0.522										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15199-15201)Ggc>Agc		spectrin repeat containing, nuclear envelope 1							88	89	89					6																	152647525		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647525C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15199G>A	6.37:g.152647525C>T	ENSP00000356224:p.Gly5067Ser	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S	p.G5067S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15800	-		Ovarian(120;0.0955)	5067					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15199G>A	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.01	3.527783	0.64860	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.39	5.56	5.56	0.83823	.	0.231634	0.30244	N	0.010061	T	0.27798	0.0684	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.58268	0.982;0.935;0.935;0.961	P;B;B;B	0.46076	0.503;0.238;0.238;0.418	T	0.02269	-1.1185	10	0.18710	T	0.47	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	5067;5067;5067;4996	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5067;4996;5067;4996;4814	ENSP00000356224:G5067S;ENSP00000396024:G4996S;ENSP00000265368:G5067S;ENSP00000390975:G4996S;ENSP00000341887:G4814S	ENSP00000265368:G5067S	G	-	1	0	SYNE1	152689218	0.994000	0.37717	0.514000	0.27761	0.811000	0.45836	6.047000	0.71038	2.621000	0.88768	0.591000	0.81541	GGC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		74	288	0	0	0	1	0	74	288					T	152647525	C	T	152647525	3	4	79	1	0	0	0	0	1	0	0	0	15497	652	23	1	11539	1	SYNE1	6	152647525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	152647525	18467542	7972	18289											
SYNE1	23345	broad.mit.edu	37	chr6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccttaaaatgcttcctaGaaaccaaattcttctctagt	3	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4563					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTTCCTAGAAACCAAATT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13687-13689)tCt>tAt		spectrin repeat containing, nuclear envelope 1							135	142	139					6																	152652132		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652132G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13688C>A	6.37:g.152652132G>T	ENSP00000356224:p.Ser4563Tyr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y	p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14289	-		Ovarian(120;0.0955)	4563					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13688C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289456	0.40494	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.03	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.49440	0.1557	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.956;0.956;0.98	T	0.55522	-0.8128	10	0.62326	D	0.03	.	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	4563;4563;4563;4492	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4563;4492;4563;4492	ENSP00000356224:S4563Y;ENSP00000396024:S4492Y;ENSP00000265368:S4563Y;ENSP00000390975:S4492Y	ENSP00000265368:S4563Y	S	-	2	0	SYNE1	152693825	1.000000	0.71417	0.868000	0.34077	0.993000	0.82548	8.062000	0.89475	1.544000	0.49359	0.655000	0.94253	TCT		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		177	772	1	0	2.0106e-78	1	2.56814e-78	177	772					T	152652132	G	T	152652132	3	4	79	1	0	0	0	0	1	0	0	0	15497	942	33	3	13054	3	SYNE1	6	152652132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4607	152652132	18462935	7973	18290											
SYNE1	23345	broad.mit.edu	37	chr6	152652461	152652461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaactgggttttctcGgacaaggctttgtttaagta	11	5	1	1	rs369434204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652461G>A	ENST00000367255.5	-	78	13960	c.13359C>T	c.(13357-13359)tcC>tcT	p.S4453S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.S4382S|SYNE1_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000265368.4_Silent_p.S4453S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S4453S(2)|p.S4382S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTTTTCTCGGACAAGGCTT	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - coding silent(3)	p.S4453S(2)|p.S4382S(1)	endometrium(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13357-13359)tcC>tcT		spectrin repeat containing, nuclear envelope 1		G	,	0,4406		0,0,2203	102	93	96		13146,13359	-5.7	0.9	6		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4382/8750,4453/8798	152652461	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652461G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13359C>T	6.37:g.152652461G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000265368.4_Silent_p.S4453S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.S4382S	p.S4453S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13960	-		Ovarian(120;0.0955)	4453					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.13359C>T	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		43	266	0	0	0	1	0	43	266					A	152652461	G	A	152652461	2	1	79	1	0	0	0	0	0	0	0	1	15497	1103	39	1		1	SYNE1	6	152652461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	152652461	18462606	7974	18291											
SYNE1	23345	broad.mit.edu	37	chr6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggcccactaagtcacTgagacaattcacgtggcttt	9	12	2	1	rs376505187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4438					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTAAGTCACTGAGACAATTC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13312-13314)Agt>Ggt		spectrin repeat containing, nuclear envelope 1							100	92	95					6																	152652508		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652508T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13312A>G	6.37:g.152652508T>C	ENSP00000356224:p.Ser4438Gly	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G	p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13913	-		Ovarian(120;0.0955)	4438					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13312A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409322	0.25378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	3.48	0.39840	.	0.334922	0.29355	N	0.012386	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.14805	0.011;0.003;0.003;0.005	B;B;B;B	0.15484	0.005;0.006;0.006;0.013	T	0.08289	-1.0729	10	0.15499	T	0.54	.	9.7803	0.40645	0.0:0.1377:0.0:0.8623	.	4438;4438;4438;4367	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4438;4367;4438;4367;4303	ENSP00000356224:S4438G;ENSP00000396024:S4367G;ENSP00000265368:S4438G;ENSP00000390975:S4367G;ENSP00000341887:S4303G	ENSP00000265368:S4438G	S	-	1	0	SYNE1	152694201	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	3.524000	0.53495	0.490000	0.27771	0.533000	0.62120	AGT		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		72	292	0	0	0	1	0	72	292					C	152652508	T	C	152652508	3	2	79	1	0	0	0	0	1	0	0	0	15497	1580	55	4	13430	4	SYNE1	6	152652508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	152652508	18462559	7975	18292											
SYNE1	23345	broad.mit.edu	37	chr6	152658135	152658135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagttaagttctgggcctgGacaagcttttgttcaatctt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12367-12369)gtC>gtT		spectrin repeat containing, nuclear envelope 1							64	59	60					6																	152658135		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152658135G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12369C>T	6.37:g.152658135G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000423061.1_Silent_p.V4052V	p.V4123V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	76	12970	-		Ovarian(120;0.0955)	4123					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12369C>T	CCDS5236.2																																																																																				0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	152	0	0	0	1	0	32	152					A	152658135	G	A	152658135	2	1	79	1	0	0	0	0	0	0	0	1	15497	1161	41	2		2	SYNE1	6	152658135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5627	152658135	18456932	7976	18293											
SYNE1	23345	broad.mit.edu	37	chr6	152673222	152673222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgggttcttcaggaacAtgtagaatttcctggtattc	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152673222A>G	ENST00000367255.5	-	70	12121	c.11520T>C	c.(11518-11520)caT>caC	p.H3840H	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.H3825H|SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000265368.4_Silent_p.H3840H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3840					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCAGGAACATGTAGAATTT	0.378										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11518-11520)caT>caC		spectrin repeat containing, nuclear envelope 1							154	146	149					6																	152673222		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152673222A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11520T>C	6.37:g.152673222A>G		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000265368.4_Silent_p.H3840H|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.H3825H	p.H3840H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	12121	-		Ovarian(120;0.0955)	3840					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11520T>C	CCDS5236.2																																																																																				0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	598	0	0	0	1	0	15	598					G	152673222	A	G	152673222	2	3	79	1	0	0	0	0	0	0	0	1	15497	214	8	4		4	SYNE1	6	152673222	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15087	152673222	18441845	7977	18294											
SYNE1	23345	broad.mit.edu	37	chr6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccggagagactctaaaGcccggtcctctgcctgtggg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3571					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTCTAAAGCCCGGTCCTC	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10711-10713)gCt>gTt		spectrin repeat containing, nuclear envelope 1							130	134	132					6																	152676008		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676008G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10712C>T	6.37:g.152676008G>A	ENSP00000356224:p.Ala3571Val	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V	p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11313	-		Ovarian(120;0.0955)	3571					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10712C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500083	0.26861	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.21	-0.531	0.11894	.	0.649919	0.13988	N	0.349005	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.40040	-0.9584	10	0.25106	T	0.35	.	9.6035	0.39619	0.5823:0.0:0.4177:0.0	.	3571;3571;3571;3578	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3571;3578;3571;3578;3542	ENSP00000356224:A3571V;ENSP00000396024:A3578V;ENSP00000265368:A3571V;ENSP00000390975:A3578V;ENSP00000341887:A3542V	ENSP00000265368:A3571V	A	-	2	0	SYNE1	152717701	0.000000	0.05858	0.066000	0.19879	0.993000	0.82548	0.116000	0.15561	0.018000	0.15052	0.555000	0.69702	GCT		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		150	681	0	0	0	1	0	150	681					A	152676008	G	A	152676008	3	1	79	1	0	0	0	0	1	0	0	0	15497	971	34	2	16074	2	SYNE1	6	152676008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2786	152676008	18439059	7978	18295											
SYNE1	23345	broad.mit.edu	37	chr6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagctccgcatgctgcCtttctgattcattcaggttg	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3417					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCATGCTGCCTTTCTGATTC	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10249-10251)aGg>aTg		spectrin repeat containing, nuclear envelope 1							134	119	124					6																	152683354		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152683354C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10250G>T	6.37:g.152683354C>A	ENSP00000356224:p.Arg3417Met	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M	p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	64	10851	-		Ovarian(120;0.0955)	3417					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10250G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713306	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.28	4.39	0.52855	.	0.096293	0.44285	D	0.000461	T	0.37461	0.1004	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	P;P;P;P	0.61800	0.786;0.786;0.786;0.894	T	0.22173	-1.0224	10	0.46703	T	0.11	.	10.8188	0.46593	0.0:0.8525:0.0:0.1475	.	3417;3417;3417;3424	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3417;3424;3417;3424	ENSP00000356224:R3417M;ENSP00000396024:R3424M;ENSP00000265368:R3417M;ENSP00000390975:R3424M	ENSP00000265368:R3417M	R	-	2	0	SYNE1	152725047	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	2.954000	0.49113	1.315000	0.45114	0.655000	0.94253	AGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		63	303	1	0	9.40535e-28	1	1.0908e-27	63	303					A	152683354	C	A	152683354	3	1	79	1	0	0	0	0	1	0	0	0	15497	681	24	3	16548	3	SYNE1	6	152683354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7346	152683354	18431713	7979	18296											
SYNE1	23345	broad.mit.edu	37	chr6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcctggatccctttcGctttctctttggtcagcagg	10	12	2	0	rs146402274	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATCCCTTTCGCTTTCTCTTT	0.398										HNSCC(10;0.0054)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		16120	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9418-9420)gCg>gTg		spectrin repeat containing, nuclear envelope 1		G	VAL/ALA,VAL/ALA	4,4402	6.2+/-15.9	0,4,2199	164	170	168		9440,9419	6	1	6	dbSNP_134	168	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	64,64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	3147/8750,3140/8798	152694260	4,13002	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152694260G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9419C>T	6.37:g.152694260G>A	ENSP00000356224:p.Ala3140Val	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V	p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	59	10020	-		Ovarian(120;0.0955)	3140					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9419C>T	CCDS5236.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.51|11.51	1.658993|1.658993	0.29515|0.29515	9.08E-4|9.08E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|.	0.56411|.	0.1983|.	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29253|.	0.016;0.239;0.016;0.048|.	B;B;B;B|.	0.24269|.	0.006;0.052;0.006;0.013|.	T|.	0.50206|.	-0.8855|.	10|.	0.15066|.	T|.	0.55|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	V|X	3140;3147;3140;3147;3179|257	ENSP00000356224:A3140V;ENSP00000396024:A3147V;ENSP00000265368:A3140V;ENSP00000390975:A3147V;ENSP00000341887:A3179V|.	ENSP00000265368:A3140V|.	A|R	-|-	2|1	0|2	SYNE1|SYNE1	152735953|152735953	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.031000|0.031000	0.12232|0.12232	5.061000|5.061000	0.64319|0.64319	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		171	670	0	0	0	1	0	171	670					A	152694260	G	A	152694260	3	1	79	1	0	0	0	0	1	0	0	0	15497	1087	38	1	17399	1	SYNE1	6	152694260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10906	152694260	18420807	7980	18297											
SYNE1	23345	broad.mit.edu	37	chr6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatccctgaaggcctttcGaaatctttgctgtaaaatct	7	9	2	1	rs549779256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3070					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9208-9210)Cga>Tga		spectrin repeat containing, nuclear envelope 1							76	79	78					6																	152697632		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697632G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9208C>T	6.37:g.152697632G>A	ENSP00000356224:p.Arg3070*	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*	p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9809	-		Ovarian(120;0.0955)	3070					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.9208C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711637	0.89112	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	3.87	0.44632	.	0.696895	0.13021	N	0.420059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.2997	0.66339	0.0:0.0:0.6123:0.3877	.	.	.	.	X	3070;3077;3070;3077;3109	.	ENSP00000265368:R3070X	R	-	1	2	SYNE1	152739325	1.000000	0.71417	0.880000	0.34516	0.904000	0.53231	4.425000	0.59875	0.714000	0.32081	0.655000	0.94253	CGA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		45	235	0	0	0	1	0	45	235					A	152697632	G	A	152697632	4	1	79	1	0	0	0	0	0	1	0	0	15497	1066	37	1	17614	1	SYNE1	6	152697632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3372	152697632	18417435	7981	18298											
SYNE1	23345	broad.mit.edu	37	chr6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagccaatctgtgaactCgtggaccgcatctaaataca	9	10	2	1	rs371684437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGAACTCGTGGACCGCA	0.393										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8551-8553)Gag>Aag		spectrin repeat containing, nuclear envelope 1		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	189	177	181		8572,8551	5.5	0.8	6		181	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2858/8750,2851/8798	152706910	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706910C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8551G>A	6.37:g.152706910C>T	ENSP00000356224:p.Glu2851Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K	p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9152	-		Ovarian(120;0.0955)	2851					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8551G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991900	0.54041	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56941	0.52;0.51;0.43;0.52;0.62	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.62744	0.2453	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.69479	0.883;0.922;0.922;0.964	T	0.56390	-0.7987	10	0.15952	T	0.53	.	19.4115	0.94675	0.0:1.0:0.0:0.0	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2851;2858;2851;2858;2890	ENSP00000356224:E2851K;ENSP00000396024:E2858K;ENSP00000265368:E2851K;ENSP00000390975:E2858K;ENSP00000341887:E2890K	ENSP00000265368:E2851K	E	-	1	0	SYNE1	152748603	1.000000	0.71417	0.840000	0.33206	0.050000	0.14768	7.463000	0.80869	2.599000	0.87857	0.591000	0.81541	GAG		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		98	534	0	0	0	1	0	98	534					T	152706910	C	T	152706910	3	4	79	1	0	0	0	0	1	0	0	0	15497	893	31	1	18283	1	SYNE1	6	152706910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9278	152706910	18408157	7982	18299											
SYNE1	23345	broad.mit.edu	37	chr6	152737755	152737755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctttgctcagagctcccGattttcagatggtattgggc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5815-5817)atC>atT		spectrin repeat containing, nuclear envelope 1							108	105	106					6																	152737755		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737755G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5817C>T	6.37:g.152737755G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I	p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6418	-		Ovarian(120;0.0955)	1939					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.5817C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		89	444	0	0	0	1	0	89	444					A	152737755	G	A	152737755	2	1	79	1	0	0	0	0	0	0	0	1	15497	1048	37	1		1	SYNE1	6	152737755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30845	152737755	18377312	7983	18300											
SYNE1	23345	broad.mit.edu	37	chr6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccacaacctggctggCctcctcaaacagctggaagc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1856					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCTGGCCTCCTCAAAC	0.602										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5566-5568)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							73	73	73					6																	152738006		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152738006C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5566G>A	6.37:g.152738006C>T	ENSP00000356224:p.Ala1856Thr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T	p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6167	-		Ovarian(120;0.0955)	1856					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5566G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904732	0.72868	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	T	0.41396	0.1157	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.62365	0.874;0.991;0.991;0.98	B;P;P;P	0.56960	0.223;0.78;0.78;0.81	T	0.32771	-0.9894	10	0.42905	T	0.14	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	1839;1856;1856;1863	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1856;1863;1856;1863;1893	ENSP00000356224:A1856T;ENSP00000396024:A1863T;ENSP00000265368:A1856T;ENSP00000390975:A1863T;ENSP00000341887:A1893T	ENSP00000265368:A1856T	A	-	1	0	SYNE1	152779699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	1.623000	0.50342	0.650000	0.86243	GCC		0.602	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		90	351	0	0	0	1	0	90	351					T	152738006	C	T	152738006	3	4	79	1	0	0	0	0	1	0	0	0	15497	739	26	2	21324	2	SYNE1	6	152738006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	152738006	18377061	7984	18301											
SYNE1	23345	broad.mit.edu	37	chr6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgctgctcacctctgCcagtgggccagcagattctc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1657					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCTCTGCCAGTGGGCCA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4969-4971)tgG>tgT		spectrin repeat containing, nuclear envelope 1							190	199	196					6																	152749345		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749345C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4971G>T	6.37:g.152749345C>A	ENSP00000356224:p.Trp1657Cys	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C	p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5572	-		Ovarian(120;0.0955)	1657					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4971G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639583	0.67244	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.71710	0.3372	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.72228	-0.4354	10	0.72032	D	0.01	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1640;1657;1657;1657;1664	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	C	1657;1664;1657;1664;1727;1657	ENSP00000356224:W1657C;ENSP00000396024:W1664C;ENSP00000265368:W1657C;ENSP00000390975:W1664C;ENSP00000341887:W1727C;ENSP00000356222:W1657C	ENSP00000265368:W1657C	W	-	3	0	SYNE1	152791038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	TGG		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		223	1345	1	0	3.95597e-38	1	4.76283e-38	223	1345					A	152749345	C	A	152749345	3	1	79	1	0	0	0	0	1	0	0	0	15497	740	26	3	21935	3	SYNE1	6	152749345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11339	152749345	18365722	7985	18302											
SYNE1	23345	broad.mit.edu	37	chr6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgtctctccttcgccCtccttaggatgtcctcgtat	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4924-4926)aGg>aTg		spectrin repeat containing, nuclear envelope 1							194	198	196					6																	152749391		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749391C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4925G>T	6.37:g.152749391C>A	ENSP00000356224:p.Arg1642Met	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M	p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5526	-		Ovarian(120;0.0955)	1642					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4925G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259821	0.23051	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999998	B;P;P;P;P	0.39131	0.291;0.661;0.606;0.661;0.474	B;B;B;B;B	0.43575	0.125;0.155;0.424;0.155;0.333	T	0.54543	-0.8278	10	0.46703	T	0.11	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642M;ENSP00000396024:R1649M;ENSP00000265368:R1642M;ENSP00000390975:R1649M;ENSP00000341887:R1712M;ENSP00000356222:R1642M	ENSP00000265368:R1642M	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	1380	1	0	5.35267e-07	1	5.54261e-07	30	1380					A	152749391	C	A	152749391	3	1	79	1	0	0	0	0	1	0	0	0	15497	681	24	3	21981	3	SYNE1	6	152749391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	152749391	18365676	7986	18303											
SYNE1	23345	broad.mit.edu	37	chr6	152757165	152757165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttattttggggcccaagCggtatctctgaagcttcctt	10	10	1	1	rs200370595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152757165C>T	ENST00000367255.5	-	33	4822	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P	SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000367248.3_Silent_p.P1397P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000265368.4_Silent_p.P1407P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1407					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGGCCCAAGCGGTATCTCTG	0.403										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4219-4221)ccG>ccA		spectrin repeat containing, nuclear envelope 1							147	132	137					6																	152757165		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757165C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4221G>A	6.37:g.152757165C>T		HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000367248.3_Silent_p.P1397P	p.P1407P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4822	-		Ovarian(120;0.0955)	1407					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4221G>A	CCDS5236.2																																																																																				0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	408	0	0	0	1	0	15	408					T	152757165	C	T	152757165	2	4	79	1	0	0	0	0	0	0	0	1	15497	755	27	1		1	SYNE1	6	152757165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7774	152757165	18357902	7987	18304											
SYNE1	23345	broad.mit.edu	37	chr6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaacatgaatatctgcaatCtgtctttgtagcctcgtctg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	900					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCAATCTGTCTTTGTA	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2698-2700)caG>caT		spectrin repeat containing, nuclear envelope 1							160	138	145					6																	152777048		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777048C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2700G>T	6.37:g.152777048C>A	ENSP00000356224:p.Gln900His	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H	p.Q900H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3301	-		Ovarian(120;0.0955)	900					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2700G>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581997|3.581997	0.65992|0.65992	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T|T;T;T;T;T;T;T;T	0.48836|0.35789	0.8|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.49|5.49	3.68|3.68	0.42216|0.42216	.|.	.|0.110333	.|0.39020	.|N	.|0.001484	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B;B	.|0.44195	.|0.472;0.002;0.828;0.654;0.771;0.002;0.006	.|B;B;P;B;P;B;B	.|0.47705	.|0.173;0.002;0.555;0.431;0.532;0.002;0.01	T|T	0.02966|0.02966	-1.1088|-1.1088	7|10	0.59425|0.48119	D|T	0.04|0.1	.|.	7.4634|7.4634	0.27308|0.27308	0.0:0.6963:0.1475:0.1562|0.0:0.6963:0.1475:0.1562	.|.	.|883;900;467;890;900;900;907	.|B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.;.;.	Y|H	952|900;907;900;907;900;890;900;467	ENSP00000341887:D952Y|ENSP00000356224:Q900H;ENSP00000396024:Q907H;ENSP00000265368:Q900H;ENSP00000390975:Q907H;ENSP00000356222:Q900H;ENSP00000356217:Q890H;ENSP00000414510:Q900H;ENSP00000438508:Q467H	ENSP00000341887:D952Y|ENSP00000265368:Q900H	D|Q	-|-	1|3	0|2	SYNE1|SYNE1	152818741|152818741	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.927000|0.927000	0.56198|0.56198	0.487000|0.487000	0.22356|0.22356	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		41	370	1	0	1.07121e-22	1	1.21384e-22	41	370					A	152777048	C	A	152777048	3	1	79	1	0	0	0	0	1	0	0	0	15497	912	32	3	24262	3	SYNE1	6	152777048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19883	152777048	18338019	7988	18305											
FBXO5	26271	broad.mit.edu	37	chr6	153296625	153296625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttacaggaaccttccaAatatgcaggggtgtaggaaa	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296625A>G	ENST00000229758.3	-	2	293	c.235T>C	c.(235-237)Ttg>Ctg	p.L79L	FBXO5_ENST00000367241.3_Silent_p.L33L|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GAACCTTCCAAATATGCAGGG	0.393																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(97-99)Ttg>Ctg		F-box protein 5							117	121	119					6																	153296625		2203	4300	6503	SO:0001819	synonymous_variant	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296625A>G	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.235T>C	6.37:g.153296625A>G						FBXO5_ENST00000229758.3_Silent_p.L79L	p.L33L	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	477	-		Ovarian(120;0.125)	79					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	37	c.97T>C	CCDS5242.1																																																																																				0.393	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			16	502	0	0	0	1	0	16	502					G	153296625	A	G	153296625	2	3	79	1	0	0	0	0	0	0	0	1	5783	11	1	4		4	FBXO5	6	153296625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	519577	153296625	17818442	7989	18306											
FBXO5	26271	broad.mit.edu	37	chr6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggttacaattaaaaTcacacttcattttgacagaa	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000229758.3	-	2	207	c.149A>G	c.(148-150)gAt>gGt	p.D50G	FBXO5_ENST00000367241.3_Missense_Mutation_p.D4G|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAATTAAAATCACACTTCAT	0.353																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(10-12)gAt>gGt		F-box protein 5							69	73	72					6																	153296711		2201	4298	6499	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296711T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.149A>G	6.37:g.153296711T>C	ENSP00000229758:p.Asp50Gly					FBXO5_ENST00000229758.3_Missense_Mutation_p.D50G	p.D4G	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	391	-		Ovarian(120;0.125)	50					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.11A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341237	0.60963	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48836	0.8;0.93	5.4	1.63	0.23807	.	0.275036	0.33650	N	0.004693	T	0.18002	0.0432	L	0.56769	1.78	0.25130	N	0.990574	B	0.17667	0.023	B	0.14578	0.011	T	0.24440	-1.0160	10	0.33940	T	0.23	-9.9826	5.0346	0.14428	0.0:0.2207:0.1443:0.635	.	50	Q9UKT4	FBX5_HUMAN	G	50;4	ENSP00000229758:D50G;ENSP00000356210:D4G	ENSP00000229758:D50G	D	-	2	0	FBXO5	153338404	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.468000	0.35332	0.045000	0.15804	0.533000	0.62120	GAT		0.353	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			77	299	0	0	0	1	0	77	299					C	153296711	T	C	153296711	3	2	79	1	0	0	0	0	1	0	0	0	5783	1435	50	4	1210	4	FBXO5	6	153296711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	153296711	17818356	7990	18307											
MTRF1L	54516	broad.mit.edu	37	chr6	153315696	153315696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatggtgctagtatggacGcggccttgcttttctgtctt	12	9	3	0	rs372750968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000367230.1_Silent_p.R177R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	213						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TAGTATGGACGCGGCCTTGCT	0.507																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(637-639)cgC>cgT		mitochondrial translational release factor 1-like		G	,	2,4404	4.2+/-10.8	0,2,2201	183	159	168		639,639	4.1	1	6		168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	213/272,213/381	153315696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153315696G>A	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.639C>T	6.37:g.153315696G>A						MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R	p.R213R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	4	638	-		Ovarian(120;0.125)	213					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	c.639C>T	CCDS5243.1																																																																																				0.507	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		97	432	0	0	0	1	0	97	432					A	153315696	G	A	153315696	2	1	79	1	0	0	0	0	0	0	0	1	10001	1074	38	1		1	MTRF1L	6	153315696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18985	153315696	17799371	7991	18308											
RGS17	26575	broad.mit.edu	37	chr6	153347642	153347642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtgtgtgtgggtcttccCgcattttcccctctttcttc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	52					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A52A(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGGTCTTCCCGCATTTTCCC	0.388																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			1	Substitution - coding silent(1)	p.A52A(1)	lung(1)	cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(154-156)gcG>gcA		regulator of G-protein signaling 17							326	240	269					6																	153347642		2203	4300	6503	SO:0001819	synonymous_variant	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347642C>T	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.156G>A	6.37:g.153347642C>T						RGS17_ENST00000206262.1_Silent_p.A52A	p.A52A			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	2	180	-		Ovarian(120;0.126)	52					Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	37	c.156G>A	CCDS5244.1																																																																																				0.388	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			97	504	0	0	0	1	0	97	504					T	153347642	C	T	153347642	2	4	79	1	0	0	0	0	0	0	0	1	13349	639	23	1		1	RGS17	6	153347642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31946	153347642	17767425	7992	18309											
RGS17	26575	broad.mit.edu	37	chr6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaacaacagcaccaAcaaaagcaacaggtgttgtt	8	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	31	Poly-Cys.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAGCACCAACAAAAGCAAC	0.507																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			0				cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(91-93)tgT>tgG		regulator of G-protein signaling 17							167	159	162					6																	153365061		2203	4300	6503	SO:0001583	missense	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153365061A>C	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.93T>G	6.37:g.153365061A>C	ENSP00000356194:p.Cys31Trp					RGS17_ENST00000206262.1_Missense_Mutation_p.C31W	p.C31W			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	1	117	-		Ovarian(120;0.126)	31			Poly-Cys.		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.93T>G	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747915	0.30955	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.55052	0.54;0.54	5.29	0.471	0.16752	.	0.451574	0.30510	N	0.009476	T	0.59348	0.2187	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61603	-0.7029	10	0.45353	T	0.12	-13.2255	9.7424	0.40427	0.5062:0.0:0.4938:0.0	.	31	Q9UGC6	RGS17_HUMAN	W	31	ENSP00000356194:C31W;ENSP00000206262:C31W	ENSP00000206262:C31W	C	-	3	2	RGS17	153406754	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.100000	0.31025	-0.022000	0.13986	0.377000	0.23210	TGT		0.507	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			122	591	0	0	0	1	0	122	591					C	153365061	A	C	153365061	3	2	79	1	0	0	0	0	1	0	0	0	13349	41	2	4	555	4	RGS17	6	153365061	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17419	153365061	17750006	7993	18310											
OPRM1	4988	broad.mit.edu	37	chr6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattctctcatccaacctgGtactgggaaaacctgctgaa	7	12	2	1	rs371412870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000330432.7	+	3	921	c.684G>T	c.(682-684)tgG>tgT	p.W228C	OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	228					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(682-684)tgG>tgT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						197	179	185					6																	154412127		1962	4177	6139	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412127G>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.684G>T	6.37:g.154412127G>T	ENSP00000328264:p.Trp228Cys					OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000330432.7_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C	p.W228C	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	734	+		Ovarian(120;0.196)	228					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.684G>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503709	0.64298	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.997;0.98;0.946;0.998;0.997;0.998;0.997;0.993	D;P;P;D;D;D;P;D;D;D;D;P	0.91635	0.999;0.887;0.887;0.999;0.936;0.932;0.886;0.936;0.932;0.927;0.936;0.887	T	0.52689	-0.8542	10	0.39692	T	0.17	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	228;228;228;228;321;147;128;228;228;228;228;228	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	321;128;147;228;228;228;228;228;228;228;228;228;228;128;128	ENSP00000394624:W321C;ENSP00000430876:W128C;ENSP00000430260:W147C;ENSP00000328264:W228C;ENSP00000353598:W228C;ENSP00000411903:W228C;ENSP00000410497:W228C;ENSP00000229768:W228C;ENSP00000403549:W228C;ENSP00000430097:W228C;ENSP00000399359:W228C;ENSP00000413752:W228C;ENSP00000338381:W228C;ENSP00000429719:W128C;ENSP00000429373:W128C	ENSP00000229768:W228C	W	+	3	0	OPRM1	154453820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG		0.398	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		117	570	1	0	1.81975e-59	1	2.28519e-59	117	570					T	154412127	G	T	154412127	3	4	79	1	0	0	0	0	1	0	0	0	10929	1270	44	3	1028	3	OPRM1	6	154412127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1047066	154412127	16702940	7994	18311											
CNKSR3	154043	broad.mit.edu	37	chr6	154727608	154727608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcctcctggaatggaatCgtggcgctgctgtggagatc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000607772.1	-	13	2092	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	516	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATGGAATCGTGGCGCTGC	0.587																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1546-1548)acG>acA		CNKSR family member 3							147	122	131					6																	154727608		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727608C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1548G>A	6.37:g.154727608C>T						CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	p.T516T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2092	-		Ovarian(120;0.196)	516			DUF1170.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.1548G>A	CCDS5246.1																																																																																				0.587	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		103	531	0	0	0	1	0	103	531					T	154727608	C	T	154727608	2	4	79	1	0	0	0	0	0	0	0	1	3617	871	31	1		1	CNKSR3	6	154727608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315481	154727608	16387459	7995	18312											
CNKSR3	154043	broad.mit.edu	37	chr6	154743640	154743640	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacagttaatcccagatacCtgtacaagaggtggcttcca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945G>T	c.(943-945)caG>caT	p.Q315H	CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	315					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.e9+1		CNKSR family member 3							127	136	133					6																	154743640		2203	4300	6503	SO:0001630	splice_region_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743640C>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.945+1G>T	6.37:g.154743640C>A						CNKSR3_ENST00000433165.2_Splice_Site_p.Q140_splice|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235_splice	p.Q315_splice	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1489	-		Ovarian(120;0.196)	315					Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	37	c.945_splice	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330836	0.60853	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.52983	1.22;0.64;0.64;0.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.54323	1.7	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.54016	-0.8356	9	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	315	Q6P9H4	CNKR3_HUMAN	H	90;315;140;235;77;140	ENSP00000356182:Q315H;ENSP00000414185:Q140H;ENSP00000418975:Q235H;ENSP00000406740:Q140H	.	Q	-	3	2	CNKSR3	154785332	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.416000	0.80143	2.656000	0.90262	0.655000	0.94253	CAG		0.438	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	Missense_Mutation	118	475	1	0	2.44049e-67	1	3.09122e-67	118	475					A	154743640	C	A	154743640	5	1	79	1	0	0	0	0	0	0	1	0	3617	695	24	3	742	3	CNKSR3	6	154743640	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16032	154743640	16371427	7996	18313											
RBM16	22828	broad.mit.edu	37	chr6	155109046	155109046	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttattgactccattgtgCgacaatcccgacatcagttt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155109046C>T	ENST00000367178.3	+	4	787	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.R71*|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.R137*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	71	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCATTGTGCGACAATCCCG	0.368																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(211-213)Cga>Tga		SR-related CTD-associated factor 8							152	143	146					6																	155109046		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155109046C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.211C>T	6.37:g.155109046C>T	ENSP00000356146:p.Arg71*					SCAF8_ENST00000367186.4_Nonsense_Mutation_p.R137*|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.R71*	p.R71*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			4	787	+			71			CID.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.211C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843274	0.91197	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.18	4.3	0.51218	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9719	0.64245	0.29:0.71:0.0:0.0	.	.	.	.	X	71;71;137	.	ENSP00000356146:R71X	R	+	1	2	SCAF8	155150738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.393000	0.52544	1.288000	0.44600	0.591000	0.81541	CGA		0.368	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		15	479	0	0	0	1	0	15	479					T	155109046	C	T	155109046	4	4	79	1	0	0	0	0	0	1	0	0	13168	760	27	1	225	1	RBM16	6	155109046	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365406	155109046	16006021	7997	18314											
TIAM2	26230	broad.mit.edu	37	chr6	155465849	155465849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagtgcagtctgttccagaGcatcccaagaaagaaaatgt	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155465849G>T	ENST00000461783.3	+	8	3013	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	580	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTTCCAGAGCATCCCAAGA	0.463																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1738-1740)gaG>gaT		T-cell lymphoma invasion and metastasis 2							150	138	142					6																	155465849		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155465849G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1740G>T	6.37:g.155465849G>T	ENSP00000437188:p.Glu580Asp					TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D	p.E580D			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	8	3013	+		Ovarian(120;0.196)	580			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1740G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.348982	0.61183	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	-3.92	0.04155	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.988;0.993	T	0.77384	-0.2608	10	0.54805	T	0.06	.	14.7676	0.69651	0.5628:0.0:0.4372:0.0	.	580;580	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	D	580;826;580;580;580;580;580	ENSP00000437188:E580D;ENSP00000434901:E580D;ENSP00000407746:E580D;ENSP00000327315:E580D;ENSP00000353528:E580D;ENSP00000433348:E580D	ENSP00000327315:E580D	E	+	3	2	TIAM2	155507541	0.977000	0.34250	0.233000	0.24025	0.698000	0.40448	0.222000	0.17699	-0.729000	0.04875	-1.057000	0.02308	GAG		0.463	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		10	477	1	0	7.48243e-07	1	7.73841e-07	10	477					T	155465849	G	T	155465849	3	4	79	1	0	0	0	0	1	0	0	0	15943	962	34	3	1750	3	TIAM2	6	155465849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356803	155465849	15649218	7998	18315											
TIAM2	26230	broad.mit.edu	37	chr6	155572061	155572061	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctaggtaacagaactttcGatgggagagcttctgatgca	11	7	2	3	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000461783.3	+	24	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000360366.4_Silent_p.S1346S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1322					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAACTTTCGATGGGAGAGC	0.418																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3964-3966)tcG>tcA		T-cell lymphoma invasion and metastasis 2		G	,	1,4405	2.1+/-5.4	0,1,2202	164	156	158		741,3966	-10.6	0.7	6	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TIAM2	NM_001010927.2,NM_012454.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	247/627,1322/1702	155572061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572061G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3966G>A	6.37:g.155572061G>A						TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000318981.5_Silent_p.S1322S	p.S1322S			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5239	+		Ovarian(120;0.196)	1322					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3966G>A	CCDS34558.1																																																																																				0.418	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		113	496	0	0	0	1	0	113	496					A	155572061	G	A	155572061	2	1	79	1	0	0	0	0	0	0	0	1	15943	1045	37	1		1	TIAM2	6	155572061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106212	155572061	15543006	7999	18316											
NOX3	50508	broad.mit.edu	37	chr6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacttcttgttgaaatcGccagaacctaattattcttt	5	9	2	2	rs560159515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	288	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTTGAAATCGCCAGAACCTA	0.363																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(862-864)Cga>Tga		NADPH oxidase 3							100	94	96					6																	155752006		2203	4300	6503	SO:0001587	stop_gained	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155752006G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.862C>T	6.37:g.155752006G>A	ENSP00000159060:p.Arg288*						p.R288*	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	8	964	-		Breast(66;0.0183)	288			FAD-binding FR-type.		Q9HBJ9	Nonsense_Mutation	SNP	ENST00000159060.2	37	c.862C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	37	6.535245	0.97646	.	.	ENSG00000074771	ENST00000159060	.	.	.	5.86	4.97	0.65823	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9666	13.3395	0.60537	0.0:0.0:0.5566:0.4434	.	.	.	.	X	288	.	ENSP00000159060:R288X	R	-	1	2	NOX3	155793698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	1.560000	0.49568	0.650000	0.86243	CGA		0.363	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			27	284	0	0	0	1	0	27	284					A	155752006	G	A	155752006	4	1	79	1	0	0	0	0	0	1	0	0	10599	1095	38	1	868	1	NOX3	6	155752006	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179945	155752006	15363061	8000	18317											
ARID1B	57492	broad.mit.edu	37	chr6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccaaactgcccctgcCtctcaaagcagacggcaaag	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000350026.5	+	10	3042	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1027L|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1014					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGCCCCTGCCTCTCAAAGCA	0.498																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3079-3081)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							109	100	103					6																	157495196		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157495196C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3041C>T	6.37:g.157495196C>T	ENSP00000055163:p.Pro1014Leu					ARID1B_ENST00000350026.5_Missense_Mutation_p.P1014L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000478761.1_3'UTR	p.P1027L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	11	3081	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1014					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3080C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852213	0.71719	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.51	5.51	0.81932	.	0.454996	0.24059	N	0.041940	T	0.44932	0.1317	L	0.36672	1.1	0.58432	D	0.999991	P;P;P;P	0.48764	0.465;0.915;0.617;0.465	B;P;B;B	0.45071	0.178;0.468;0.242;0.178	T	0.40213	-0.9575	10	0.39692	T	0.17	.	19.4168	0.94704	0.0:1.0:0.0:0.0	.	264;1014;1027;956	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1027;1014;1014;956;431;483;436;81	ENSP00000344546:P1027L;ENSP00000055163:P1014L;ENSP00000356116:P1014L;ENSP00000275248:P956L;ENSP00000412835:P483L;ENSP00000313006:P436L;ENSP00000383596:P81L	ENSP00000275248:P956L	P	+	2	0	ARID1B	157536888	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.976000	0.63785	2.601000	0.87937	0.655000	0.94253	CCT		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		34	250	0	0	0	1	0	34	250					T	157495196	C	T	157495196	3	4	79	1	0	0	0	0	1	0	0	0	914	681	24	2	3122	2	ARID1B	6	157495196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1743190	157495196	13619871	8001	18318											
ARID1B	57492	broad.mit.edu	37	chr6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaagctccagccgccatctCctggtaagtggcggcgctgc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000350026.5	+	12	3509	c.3508C>A	c.(3508-3510)Cct>Act	p.P1170T	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1183T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1170					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGCCATCTCCTGGTAAGTG	0.632																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3547-3549)Cct>Act		AT rich interactive domain 1B (SWI1-like)							22	25	24					6																	157505566		2203	4295	6498	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157505566C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3508C>A	6.37:g.157505566C>A	ENSP00000055163:p.Pro1170Thr					ARID1B_ENST00000350026.5_Missense_Mutation_p.P1170T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T	p.P1183T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	13	3548	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1170					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3547C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022586	0.93462	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.33865	4.49;4.48;4.5;4.52;4.15;2.07;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.51857	-0.8652	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	420;1170;1183;1165	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	1183;1170;1223;1165;640;692;645;237	ENSP00000344546:P1183T;ENSP00000055163:P1170T;ENSP00000356116:P1223T;ENSP00000275248:P1165T;ENSP00000412835:P692T;ENSP00000313006:P645T;ENSP00000383596:P237T	ENSP00000275248:P1165T	P	+	1	0	ARID1B	157547258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.793000	0.96121	0.655000	0.94253	CCT		0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		37	183	1	0	1.90571e-15	1	2.08261e-15	37	183					A	157505566	C	A	157505566	3	1	79	1	0	0	0	0	1	0	0	0	914	855	30	3	3597	3	ARID1B	6	157505566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10370	157505566	13609501	8002	18319											
ARID1B	57492	broad.mit.edu	37	chr6	157522258	157522258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggataaatcatgagagCcagtggccttctcacgtcag	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000350026.5	+	17	4492	c.4491C>T	c.(4489-4491)agC>agT	p.S1497S	ARID1B_ENST00000275248.4_Silent_p.S1492S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000346085.5_Silent_p.S1510S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1497	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCATGAGAGCCAGTGGCCTT	0.607																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4528-4530)agC>agT		AT rich interactive domain 1B (SWI1-like)							152	145	148					6																	157522258		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522258C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4491C>T	6.37:g.157522258C>T						ARID1B_ENST00000350026.5_Silent_p.S1497S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000275248.4_Silent_p.S1492S	p.S1510S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4531	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1497			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4530C>T	CCDS5251.2																																																																																				0.607	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		106	480	0	0	0	1	0	106	480					T	157522258	C	T	157522258	2	4	79	1	0	0	0	0	0	0	0	1	914	738	26	2		2	ARID1B	6	157522258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16692	157522258	13592809	8003	18320											
ARID1B	57492	broad.mit.edu	37	chr6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttactcctgaggcgTggcgtgtgatgatgtccctt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000350026.5	+	18	4871	c.4870T>C	c.(4870-4872)Tgg>Cgg	p.W1624R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W1637R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTGAGGCGTGGCGTGTGAT	0.403																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4909-4911)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							538	542	541					6																	157525014		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525014T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4870T>C	6.37:g.157525014T>C	ENSP00000055163:p.Trp1624Arg					ARID1B_ENST00000350026.5_Missense_Mutation_p.W1624R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R	p.W1637R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	4910	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1624					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4909T>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288410	0.59976	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03386	4.36;4.4;4.33;4.37;3.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01084	-1.1457	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1624;1637;1619	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1637;1624;1677;1619;1146	ENSP00000344546:W1637R;ENSP00000055163:W1624R;ENSP00000356116:W1677R;ENSP00000275248:W1619R;ENSP00000412835:W1146R	ENSP00000275248:W1619R	W	+	1	0	ARID1B	157566706	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	TGG		0.403	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		434	1776	0	0	0	1	0	434	1776					C	157525014	T	C	157525014	3	2	79	1	0	0	0	0	1	0	0	0	914	1696	59	4	4983	4	ARID1B	6	157525014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2756	157525014	13590053	8004	18321											
ARID1B	57492	broad.mit.edu	37	chr6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcaaagatgagtggTggtgggactgcctcgaggtc	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000350026.5	+	19	5999	c.5998T>C	c.(5998-6000)Tgg>Cgg	p.W2000R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W2013R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGATGAGTGGTGGTGGGACTG	0.542																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6037-6039)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							108	108	108					6																	157528312		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528312T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5998T>C	6.37:g.157528312T>C	ENSP00000055163:p.Trp2000Arg					ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R	p.W2013R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6038	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2000					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6037T>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530980	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.055533	0.85682	D	0.000000	T	0.47040	0.1424	M	0.82630	2.6	0.80722	D	1	P;P;P	0.40931	0.733;0.687;0.687	B;B;B	0.42112	0.376;0.259;0.259	T	0.59705	-0.7404	10	0.87932	D	0	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	2000;2013;1995	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	2013;2000;2053;1995;1522	ENSP00000344546:W2013R;ENSP00000055163:W2000R;ENSP00000356116:W2053R;ENSP00000275248:W1995R;ENSP00000412835:W1522R	ENSP00000275248:W1995R	W	+	1	0	ARID1B	157570004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.247000	0.72411	2.117000	0.64856	0.460000	0.39030	TGG		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		66	326	0	0	0	1	0	66	326					C	157528312	T	C	157528312	3	2	79	1	0	0	0	0	1	0	0	0	914	1696	59	4	6115	4	ARID1B	6	157528312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3298	157528312	13586755	8005	18322											
SNX9	51429	broad.mit.edu	37	chr6	158349734	158349734	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaagcgctgcacgggcCgtaagtccactcctcacagt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	430	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCACGGGCCGTAAGTCCAC	0.597																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.e12+1		sorting nexin 9							53	37	42					6																	158349734		2203	4299	6502	SO:0001630	splice_region_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158349734C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1288+1C>T	6.37:g.158349734C>T							p.P430_splice	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	12	1459	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	430			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Splice_Site	SNP	ENST00000392185.3	37	c.1288_splice	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709995	0.30322	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.43688	0.94	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38222	-0.9671	10	0.06365	T	0.9	-14.4141	18.0411	0.89319	0.0:1.0:0.0:0.0	.	430	Q9Y5X1	SNX9_HUMAN	S	430;430;230	ENSP00000376024:P430S	ENSP00000252631:P230S	P	+	1	0	SNX9	158269722	1.000000	0.71417	0.978000	0.43139	0.189000	0.23516	4.415000	0.59809	2.263000	0.75096	0.467000	0.42956	CCA		0.597	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		Missense_Mutation	13	60	0	0	0	1	0	13	60					T	158349734	C	T	158349734	5	4	79	1	0	0	0	0	0	0	1	0	14959	666	23	1	1334	1	SNX9	6	158349734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821422	158349734	12765333	8006	18323											
SYNJ2	8871	broad.mit.edu	37	chr6	158495692	158495692	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcttacttatgaagaagtCttctattttgttaaacgcca	6	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2212-2214)gtC>gtT		synaptojanin 2							111	104	106					6																	158495692		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158495692C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2214C>T	6.37:g.158495692C>T						SYNJ2_ENST00000367121.3_Silent_p.V738V|SYNJ2_ENST00000367122.2_Silent_p.V738V	p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	16	2289	+			738					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.2214C>T	CCDS5254.1																																																																																				0.333	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			100	327	0	0	0	1	0	100	327					T	158495692	C	T	158495692	2	4	79	1	0	0	0	0	0	0	0	1	15505	900	32	2		2	SYNJ2	6	158495692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145958	158495692	12619375	8007	18324											
SYNJ2	8871	broad.mit.edu	37	chr6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagacaagcgttgaggCccctcctgtcgtgacagccc	12	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3820-3822)gCc>gTc		synaptojanin 2							56	60	59					6																	158516726		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516726C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3821C>T	6.37:g.158516726C>T	ENSP00000347792:p.Ala1274Val					SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V	p.A1274V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3896	+			1274			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3821C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357158	0.24598	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92545	-3.04;-3.06;0.87	5.39	2.45	0.29901	.	0.912726	0.09482	N	0.796209	T	0.70254	0.3203	N	0.19112	0.55	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.21151	0.033;0.033	T	0.59037	-0.7529	10	0.35671	T	0.21	.	5.2339	0.15436	0.257:0.5452:0.125:0.0729	.	669;1274	B4DLC4;O15056	.;SYNJ2_HUMAN	V	1229;1274;359	ENSP00000356089:A1229V;ENSP00000347792:A1274V;ENSP00000356079:A359V	ENSP00000347792:A1274V	A	+	2	0	SYNJ2	158436714	0.000000	0.05858	0.031000	0.17742	0.026000	0.11368	0.360000	0.20250	-0.230000	0.09840	0.650000	0.86243	GCC		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			89	378	0	0	0	1	0	89	378					T	158516726	C	T	158516726	3	4	79	1	0	0	0	0	1	0	0	0	15505	739	26	2	3927	2	SYNJ2	6	158516726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21034	158516726	12598341	8008	18325											
SERAC1	84947	broad.mit.edu	37	chr6	158549279	158549279	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcctccatttgcttcGattttatcacaatgtgtgga	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367104.3	-	10	1007	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367101.1_Silent_p.I292I|SERAC1_ENST00000367102.2_Silent_p.I292I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	292					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CATTTGCTTCGATTTTATCAC	0.433																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(874-876)atC>atT		serine active site containing 1							138	134	135					6																	158549279		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158549279G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.876C>T	6.37:g.158549279G>A						SERAC1_ENST00000367104.3_Silent_p.I292I|SERAC1_ENST00000367101.1_Silent_p.I292I	p.I292I			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	10	1017	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	292					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.876C>T	CCDS5255.1																																																																																				0.433	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		107	468	0	0	0	1	0	107	468					A	158549279	G	A	158549279	2	1	79	1	0	0	0	0	0	0	0	1	14124	1048	37	1		1	SERAC1	6	158549279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32553	158549279	12565788	8009	18326											
SERAC1	84947	broad.mit.edu	37	chr6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagccaaagatgtaaaataCtggatacactcatctagctc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367104.3	-	8	815	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H|SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	228					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGTAAAATACTGGATACACT	0.393																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(682-684)caG>caT		serine active site containing 1							128	123	125					6																	158564142		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158564142C>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.684G>T	6.37:g.158564142C>A	ENSP00000356071:p.Gln228His					SERAC1_ENST00000367104.3_Missense_Mutation_p.Q228H|SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H	p.Q228H			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	8	825	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	228					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.684G>T	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319136	0.60524	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48201	0.82;0.82;0.82	5.79	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.159951	0.56097	D	0.000022	T	0.48003	0.1476	M	0.63428	1.95	0.52501	D	0.999957	D	0.76494	0.999	D	0.66497	0.944	T	0.52034	-0.8629	10	0.87932	D	0	-11.4575	7.6555	0.28373	0.0:0.6056:0.0:0.3944	.	228	Q96JX3	SRAC1_HUMAN	H	228	ENSP00000356069:Q228H;ENSP00000356071:Q228H;ENSP00000356068:Q228H	ENSP00000356068:Q228H	Q	-	3	2	SERAC1	158484130	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.136000	0.31467	0.439000	0.26476	0.455000	0.32223	CAG		0.393	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		65	275	1	0	2.92391e-54	1	3.64956e-54	65	275					A	158564142	C	A	158564142	3	1	79	1	0	0	0	0	1	0	0	0	14124	564	20	3	1320	3	SERAC1	6	158564142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14863	158564142	12550925	8010	18327											
SERAC1	84947	broad.mit.edu	37	chr6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaccagcaaatggattcCgcagtatcttggctgatgtt	9	8	1	1	rs199580632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367104.3	-	5	472	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	114					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAATGGATTCCGCAGTATCTT	0.338													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0					ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(340-342)cGg>cAg		serine active site containing 1							157	125	136					6																	158569911		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158569911C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.341G>A	6.37:g.158569911C>T	ENSP00000356071:p.Arg114Gln					SERAC1_ENST00000367104.3_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	p.R114Q			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	5	482	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	114					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.341G>A	CCDS5255.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.225	0.803387	0.16397	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.63417	-0.04;-0.04;-0.04	5.61	0.821	0.18799	.	0.420066	0.27219	N	0.020379	T	0.36276	0.0961	M	0.68317	2.08	0.18873	N	0.999982	B	0.20671	0.047	B	0.10450	0.005	T	0.36040	-0.9764	10	0.28530	T	0.3	-3.3088	9.8395	0.40991	0.0:0.6572:0.0:0.3428	.	114	Q96JX3	SRAC1_HUMAN	Q	114	ENSP00000356069:R114Q;ENSP00000356071:R114Q;ENSP00000356068:R114Q	ENSP00000356068:R114Q	R	-	2	0	SERAC1	158489899	0.686000	0.27661	0.081000	0.20488	0.354000	0.29330	0.546000	0.23284	1.379000	0.46325	0.585000	0.79938	CGG		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		30	150	0	0	0	1	0	30	150					T	158569911	C	T	158569911	3	4	79	1	0	0	0	0	1	0	0	0	14124	652	23	1	1675	1	SERAC1	6	158569911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5769	158569911	12545156	8011	18328											
SERAC1	84947	broad.mit.edu	37	chr6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagatgacgcaataagCagccagggacattctgtgta	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367104.3	-	2	144	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	5					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACGCAATAAGCAGCCAGGGAC	0.378																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(13-15)Gct>Act		serine active site containing 1							104	102	103					6																	158579383		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158579383C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.13G>A	6.37:g.158579383C>T	ENSP00000356071:p.Ala5Thr					SERAC1_ENST00000367104.3_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	p.A5T			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	2	154	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	5					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.13G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884059	0.72410	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.92	0.45320	.	0.217298	0.47852	D	0.000220	T	0.32585	0.0834	M	0.73598	2.24	0.45733	D	0.998636	P	0.49635	0.926	P	0.46917	0.531	T	0.17258	-1.0375	10	0.87932	D	0	-13.9732	7.8583	0.29495	0.1606:0.752:0.0:0.0874	.	5	Q96JX3	SRAC1_HUMAN	T	5	ENSP00000356069:A5T;ENSP00000356071:A5T;ENSP00000356068:A5T	ENSP00000356068:A5T	A	-	1	0	SERAC1	158499371	0.998000	0.40836	0.977000	0.42913	0.996000	0.88848	0.717000	0.25851	-0.016000	0.14127	0.460000	0.39030	GCT		0.378	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		56	279	0	0	0	1	0	56	279					T	158579383	C	T	158579383	3	4	79	1	0	0	0	0	1	0	0	0	14124	710	25	2	2015	2	SERAC1	6	158579383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9472	158579383	12535684	8012	18329											
TULP4	56995	broad.mit.edu	37	chr6	158735144	158735144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtccccaagagtgagaaggaGaagcctgtgtgcaggagacg	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_ENST00000367094.2_Silent_p.E32E|RP11-732M18.3_ENST00000432358.1_lincRNA	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(94-96)gaG>gaA		tubby like protein 4							96	81	86					6																	158735144		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158735144G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.96G>A	6.37:g.158735144G>A						TULP4_ENST00000367094.2_Silent_p.E32E	p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	1	1453	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	32					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.96G>A	CCDS34561.1																																																																																				0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		55	217	0	0	0	1	0	55	217					A	158735144	G	A	158735144	2	1	79	1	0	0	0	0	0	0	0	1	16830	933	33	2		2	TULP4	6	158735144	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155761	158735144	12379923	8013	18330											
TULP4	56995	broad.mit.edu	37	chr6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcagcgagagcgacaCggactcagatgactacgccc	13	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	232					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGCGACACGGACTCAGAT	0.577																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(694-696)aCg>aTg		tubby like protein 4							169	137	147					6																	158870179		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870179C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.695C>T	6.37:g.158870179C>T	ENSP00000356064:p.Thr232Met					TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2052	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	232					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.695C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520788	0.64747	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03607	3.87;3.87	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108926	0.64402	D	0.000008	T	0.01940	0.0061	L	0.51422	1.61	0.36864	D	0.888589	P;B;P	0.40534	0.487;0.145;0.72	B;B;B	0.25759	0.015;0.035;0.063	T	0.58228	-0.7673	10	0.31617	T	0.26	-24.0194	18.9309	0.92564	0.0:1.0:0.0:0.0	.	232;232;232	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	M	232	ENSP00000356064:T232M;ENSP00000356061:T232M	ENSP00000356061:T232M	T	+	2	0	TULP4	158790167	1.000000	0.71417	0.413000	0.26509	0.981000	0.71138	5.921000	0.70028	2.484000	0.83849	0.563000	0.77884	ACG		0.577	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		63	370	0	0	0	1	0	63	370					T	158870179	C	T	158870179	3	4	79	1	0	0	0	0	1	0	0	0	16830	536	19	1	709	1	TULP4	6	158870179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135035	158870179	12244888	8014	18331											
TULP4	56995	broad.mit.edu	37	chr6	158900854	158900854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaggaccagccctgtaCgtggtgcgtgtggagcaccg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	366	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGTACGTGGTGCGTG	0.617																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1096-1098)taC>taT		tubby like protein 4							92	78	83					6																	158900854		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900854C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1098C>T	6.37:g.158900854C>T						TULP4_ENST00000367094.2_Silent_p.Y366Y	p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2455	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	366			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.1098C>T	CCDS34561.1																																																																																				0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		67	324	0	0	0	1	0	67	324					T	158900854	C	T	158900854	2	4	79	1	0	0	0	0	0	0	0	1	16830	547	19	1		1	TULP4	6	158900854	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30675	158900854	12214213	8015	18332											
TULP4	56995	broad.mit.edu	37	chr6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctctgccaccttgaggCtcacggccactgagaagaag	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	927					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTTGAGGCTCACGGCCAC	0.687																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2779-2781)Ctc>Ttc		tubby like protein 4							61	65	64					6																	158923474		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923474C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2779C>T	6.37:g.158923474C>T	ENSP00000356064:p.Leu927Phe					TULP4_ENST00000367094.2_Intron	p.L927F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4136	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	927					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2779C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999019	0.35226	.	.	ENSG00000130338	ENST00000367097	T	0.63255	-0.03	4.82	2.89	0.33648	.	0.189697	0.46758	D	0.000263	T	0.34571	0.0902	L	0.40543	1.245	0.80722	D	1	P	0.35383	0.498	B	0.33620	0.167	T	0.42050	-0.9474	10	0.87932	D	0	-24.6158	8.4255	0.32727	0.3675:0.4241:0.2084:0.0	.	927	Q9NRJ4	TULP4_HUMAN	F	927	ENSP00000356064:L927F	ENSP00000356064:L927F	L	+	1	0	TULP4	158843462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.231000	0.43009	1.140000	0.42260	0.561000	0.74099	CTC		0.687	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		83	404	0	0	0	1	0	83	404					T	158923474	C	T	158923474	3	4	79	1	0	0	0	0	1	0	0	0	16830	797	28	2	2829	2	TULP4	6	158923474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22620	158923474	12191593	8016	18333											
SYTL3	94120	broad.mit.edu	37	chr6	159084345	159084345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcaaggagttagaacgCgaggccattctccaggtcct	11	12	2	1	rs200370553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000360448.3_Silent_p.R15R|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	15	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.R15R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTTAGAACGCGAGGCCATTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.0					ENST00000297239.9																			1	Substitution - coding silent(1)	p.R15R(1)	endometrium(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(43-45)cgC>cgT		synaptotagmin-like 3							86	74	78					6																	159084345		2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159084345C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.45C>T	6.37:g.159084345C>T						SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Silent_p.R15R	p.R15R			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	3	239	+		Breast(66;0.000776)|Ovarian(120;0.0303)	15			RabBD.		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.45C>T	CCDS56458.1																																																																																				0.552	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			24	253	0	0	0	1	0	24	253					T	159084345	C	T	159084345	2	4	79	1	0	0	0	0	0	0	0	1	15536	755	27	1		1	SYTL3	6	159084345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160871	159084345	12030722	8017	18334											
SYTL3	94120	broad.mit.edu	37	chr6	159178308	159178308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgtggcatctgggcacGctggcccggagagtgtttct	16	10	2	1	rs372238021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	401	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCTGGGCACGCTGGCCCGGA	0.617																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1201-1203)acG>acA		synaptotagmin-like 3		T	,,,	0,4406		0,0,2203	53	47	49		999,1203,1203,999	-7	0	6		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	333/543,401/611,401/611,333/543	159178308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178308G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1203G>A	6.37:g.159178308G>A						SYTL3_ENST00000367081.3_Silent_p.T127T|SYTL3_ENST00000360448.3_Silent_p.T333T	p.T401T			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1397	+		Breast(66;0.000776)|Ovarian(120;0.0303)	401			C2 1.		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.1203G>A	CCDS56458.1																																																																																				0.617	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			42	178	0	0	0	1	0	42	178					A	159178308	G	A	159178308	2	1	79	1	0	0	0	0	0	0	0	1	15536	1074	38	1		1	SYTL3	6	159178308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93963	159178308	11936759	8018	18335											
SYTL3	94120	broad.mit.edu	37	chr6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgggactttgaagacaGcacaacacagtccttccgct	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	423					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGAAGACAGCACAACACAG	0.557																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1267-1269)aGc>aAc		synaptotagmin-like 3							98	83	88					6																	159178373		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178373G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1268G>A	6.37:g.159178373G>A	ENSP00000297239:p.Ser423Asn					SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N|SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N	p.S423N			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1462	+		Breast(66;0.000776)|Ovarian(120;0.0303)	423					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1268G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394752	0.42512	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.62941	3.15;3.15;-0.01	5.07	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.697915	0.14583	N	0.310734	T	0.28732	0.0712	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.017;0.03	B;B;B	0.15484	0.01;0.007;0.013	T	0.22661	-1.0210	10	0.12766	T	0.61	.	7.9026	0.29744	0.4606:0.0:0.5394:0.0	.	149;423;355	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	355;423;423;149	ENSP00000353631:S355N;ENSP00000297239:S423N;ENSP00000356048:S149N	ENSP00000297239:S423N	S	+	2	0	SYTL3	159098361	0.739000	0.28196	0.000000	0.03702	0.442000	0.32017	1.354000	0.34056	0.538000	0.28769	0.491000	0.48974	AGC		0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			24	358	0	0	0	1	0	24	358					A	159178373	G	A	159178373	3	1	79	1	0	0	0	0	1	0	0	0	15536	971	34	2	1098	2	SYTL3	6	159178373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	159178373	11936694	8019	18336											
TAGAP	117289	broad.mit.edu	37	chr6	159456869	159456869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctccctcctaaatatacGattctttggcatattggaat	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456869G>A	ENST00000367066.3	-	10	2517	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	729					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTAAATATACGATTCTTTGGC	0.468																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2185-2187)tCg>tTg		T-cell activation RhoGTPase activating protein							65	58	61					6																	159456869		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456869G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2186C>T	6.37:g.159456869G>A	ENSP00000356033:p.Ser729Leu					TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.S729L	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2517	-		Breast(66;0.000776)|Ovarian(120;0.0303)	729					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.2186C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337066	0.81801	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.52526	0.66;0.81	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	P	0.62089	0.898	T	0.67185	-0.5734	10	0.87932	D	0	-37.4518	19.9804	0.97323	0.0:0.0:1.0:0.0	.	729	Q8N103	TAGAP_HUMAN	L	729;551	ENSP00000356033:S729L;ENSP00000322650:S551L	ENSP00000322650:S551L	S	-	2	0	TAGAP	159376857	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	8.479000	0.90431	2.825000	0.97269	0.655000	0.94253	TCG		0.468	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		50	211	0	0	0	1	0	50	211					A	159456869	G	A	159456869	3	1	79	1	0	0	0	0	1	0	0	0	15589	1059	37	1	13	1	TAGAP	6	159456869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278496	159456869	11658198	8020	18337											
TAGAP	117289	broad.mit.edu	37	chr6	159456924	159456924	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggctggctacatcgtcGcacgagacagtcccgcttat	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456924G>A	ENST00000367066.3	-	10	2462	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R711*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTACATCGTCGCACGAGACAG	0.572																																						ENST00000367066.3																			1	Substitution - Nonsense(1)	p.R711*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2131-2133)Cga>Tga		T-cell activation RhoGTPase activating protein							68	62	64					6																	159456924		2203	4300	6503	SO:0001587	stop_gained	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456924G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2131C>T	6.37:g.159456924G>A	ENSP00000356033:p.Arg711*					TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.R711*	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2462	-		Breast(66;0.000776)|Ovarian(120;0.0303)	711					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Nonsense_Mutation	SNP	ENST00000367066.3	37	c.2131C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.771134	0.98948	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	.	.	.	5.82	-5.39	0.02664	.	0.573271	0.16820	N	0.198182	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1856	6.9636	0.24611	0.0564:0.1573:0.2893:0.497	.	.	.	.	X	711;533	.	ENSP00000322650:R533X	R	-	1	2	TAGAP	159376912	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.397000	0.20883	-0.505000	0.06568	-0.309000	0.09137	CGA		0.572	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		59	245	0	0	0	1	0	59	245					A	159456924	G	A	159456924	4	1	79	1	0	0	0	0	0	1	0	0	15589	1095	38	1	68	1	TAGAP	6	159456924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	159456924	11658143	8021	18338											
TAGAP	117289	broad.mit.edu	37	chr6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagagggtgggcttccaGgcctctcccagtcagctccc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	590					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGCTTCCAGGCCTCTCCCA	0.632																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1768-1770)cCt>cAt		T-cell activation RhoGTPase activating protein							44	50	48					6																	159457286		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457286G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1769C>A	6.37:g.159457286G>T	ENSP00000356033:p.Pro590His					TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.P590H	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2100	-		Breast(66;0.000776)|Ovarian(120;0.0303)	590					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1769C>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436674	0.83885	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.71222	-0.45;-0.55	5.54	5.54	0.83059	.	0.075686	0.56097	D	0.000030	D	0.82291	0.5005	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84171	0.0434	10	0.87932	D	0	-13.9202	19.077	0.93167	0.0:0.0:1.0:0.0	.	590	Q8N103	TAGAP_HUMAN	H	590;412;255	ENSP00000356033:P590H;ENSP00000322650:P412H	ENSP00000322650:P412H	P	-	2	0	TAGAP	159377274	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	5.734000	0.68580	2.595000	0.87683	0.655000	0.94253	CCT		0.632	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		77	361	1	0	8.07507e-42	1	9.8197e-42	77	361					T	159457286	G	T	159457286	3	4	79	1	0	0	0	0	1	0	0	0	15589	1000	35	3	430	3	TAGAP	6	159457286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	159457286	11657781	8022	18339											
FNDC1	84624	broad.mit.edu	37	chr6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgccctaacaaagcgaaaGatttcaggtatgtttctaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K253N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGCGAAAGATTTCAGGTA	0.473																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.K253N(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(757-759)aaG>aaT		fibronectin type III domain containing 1							101	110	107					6																	159642721		1951	4142	6093	SO:0001583	missense	84624					extracellular region		g.chr6:159642721G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.759G>T	6.37:g.159642721G>T	ENSP00000297267:p.Lys253Asn					FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N|FNDC1_ENST00000480856.1_3'UTR	p.K253N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	6	959	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	253					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.759G>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.468197|2.468197	0.43839|0.43839	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08807	.|3.05;3.99	6.17|6.17	1.98|1.98	0.26296|0.26296	.|Fibronectin, type III (1);	.|0.111909	.|0.64402	.|D	.|0.000011	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.36672|0.36672	1.1|1.1	0.28380|0.28380	N|N	0.919585|0.919585	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.975	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.46703	.|T	.|0.11	-34.0927|-34.0927	6.5326|6.5326	0.22336|0.22336	0.5231:0.0:0.4769:0.0|0.5231:0.0:0.4769:0.0	.|.	.|253;253	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	Y|N	212|253	.|ENSP00000297267:K253N;ENSP00000342460:K253N	.|ENSP00000297267:K253N	D|K	+|+	1|3	0|2	FNDC1|FNDC1	159562709|159562709	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.810000|0.810000	0.45777|0.45777	1.578000|1.578000	0.36525|0.36525	0.492000|0.492000	0.27815|0.27815	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		43	154	1	0	9.14704e-12	1	9.77761e-12	43	154					T	159642721	G	T	159642721	3	4	79	1	0	0	0	0	1	0	0	0	5993	933	33	3	781	3	FNDC1	6	159642721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185435	159642721	11472346	8023	18340											
FNDC1	84624	broad.mit.edu	37	chr6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaattggatgtacctgacGacatcagcgtccgggttatg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	265	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTACCTGACGACATCAGCGT	0.483																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(793-795)Gac>Aac		fibronectin type III domain containing 1							160	154	156					6																	159644586		2030	4199	6229	SO:0001583	missense	84624					extracellular region		g.chr6:159644586G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.793G>A	6.37:g.159644586G>A	ENSP00000297267:p.Asp265Asn					FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	p.D265N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	7	993	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	265			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.793G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.315|7.315	0.615763|0.615763	0.14129|0.14129	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52057|.	0.68;0.68|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.24483|.	T|.	0.36|.	-40.2157|-40.2157	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265;265|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	265|223	ENSP00000297267:D265N;ENSP00000342460:D265N|.	ENSP00000297267:D265N|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159564574|159564574	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.087000|0.087000	0.18053|0.18053	9.055000|9.055000	0.93873|0.93873	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		22	119	0	0	0	1	0	22	119					A	159644586	G	A	159644586	3	1	79	1	0	0	0	0	1	0	0	0	5993	1058	37	1	819	1	FNDC1	6	159644586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1865	159644586	11470481	8024	18341											
FNDC1	84624	broad.mit.edu	37	chr6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttgtagcccctaccaCagctcctgaaaacttgaacg	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	361					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCTACCACAGCTCCTGAA	0.438																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1081-1083)aCa>aTa		fibronectin type III domain containing 1							87	79	82					6																	159647514		1869	4104	5973	SO:0001583	missense	84624					extracellular region		g.chr6:159647514C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1082C>T	6.37:g.159647514C>T	ENSP00000297267:p.Thr361Ile					FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	p.T361I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	9	1282	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	361			Fibronectin type-III 4.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1082C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836532	0.50951	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.54675	0.56;3.96	5.54	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178634	0.47093	D	0.000256	T	0.36276	0.0961	L	0.46157	1.445	0.30456	N	0.774782	P;P	0.52842	0.956;0.876	P;P	0.51016	0.656;0.637	T	0.43766	-0.9371	10	0.62326	D	0.03	-5.3003	5.4101	0.16344	0.1226:0.5707:0.2298:0.0769	.	361;361	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	361	ENSP00000297267:T361I;ENSP00000342460:T361I	ENSP00000297267:T361I	T	+	2	0	FNDC1	159567502	0.988000	0.35896	0.985000	0.45067	0.996000	0.88848	3.207000	0.51106	1.483000	0.48342	0.655000	0.94253	ACA		0.438	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		10	63	0	0	0	1	0	10	63					T	159647514	C	T	159647514	3	4	79	1	0	0	0	0	1	0	0	0	5993	478	17	2	1116	2	FNDC1	6	159647514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2928	159647514	11467553	8025	18342											
FNDC1	84624	broad.mit.edu	37	chr6	159653575	159653575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccagccgccagtccccGtccagcgttctccgcgacag	9	21	1	0	rs373307678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	677	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTCCCCGTCCAGCGTTC	0.706																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2029-2031)ccG>ccA		fibronectin type III domain containing 1		G		0,3878		0,0,1939	14	18	17		2031	-0.7	0	6		17	1,8175		0,1,4087	no	coding-synonymous	FNDC1	NM_032532.2		0,1,6026	AA,AG,GG		0.0122,0.0,0.0083		677/1895	159653575	1,12053	1939	4088	6027	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653575G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2031G>A	6.37:g.159653575G>A						FNDC1_ENST00000340366.6_Silent_p.P614P	p.P677P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2231	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	677			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2031G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.566	0.289340	0.10513	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	4.79	-0.683	0.11335	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	-0.2902	4.3537	0.11167	0.0:0.3712:0.3191:0.3097	.	.	.	.	I	573	.	.	V	+	1	0	FNDC1	159573565	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.725000	0.04942	-0.380000	0.07894	-0.133000	0.14855	GTC		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		45	184	0	0	0	1	0	45	184					A	159653575	G	A	159653575	2	1	79	1	0	0	0	0	0	0	0	1	5993	1132	40	1		1	FNDC1	6	159653575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6061	159653575	11461492	8026	18343											
FNDC1	84624	broad.mit.edu	37	chr6	159654115	159654115	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgactgtgccctcccgagcCcaccccagggttccctctca	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	857					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCCCGAGCCCACCCCAGGG	0.622																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2569-2571)gcC>gcA		fibronectin type III domain containing 1							22	28	26					6																	159654115		1964	4148	6112	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159654115C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2571C>A	6.37:g.159654115C>A						FNDC1_ENST00000340366.6_Silent_p.A794A	p.A857A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2771	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	857					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2571C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223786	0.09863	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.0	-2.74	0.05932	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-3.3958	6.0495	0.19777	0.0:0.286:0.4831:0.2309	.	.	.	.	T	753	.	.	P	+	1	0	FNDC1	159574105	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.894000	0.04123	-0.518000	0.06452	0.655000	0.94253	CCA		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		23	66	1	0	5.35356e-11	1	5.69577e-11	23	66					A	159654115	C	A	159654115	2	1	79	1	0	0	0	0	0	0	0	1	5993	610	22	3		3	FNDC1	6	159654115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	159654115	11460952	8027	18344											
FNDC1	84624	broad.mit.edu	37	chr6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcccagcaccacccgGgaccccagagcagagacgcg	11	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1018					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCACCACCCGGGACCCCAGAG	0.721																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3052-3054)Gga>Aga		fibronectin type III domain containing 1							11	14	13					6																	159654596		2053	4180	6233	SO:0001583	missense	84624					extracellular region		g.chr6:159654596G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3052G>A	6.37:g.159654596G>A	ENSP00000297267:p.Gly1018Arg					FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	p.G1018R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3252	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1018					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3052G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158991|2.158991	0.38119|0.38119	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08102	.|3.13;3.95	4.33|4.33	-1.78|-1.78	0.07957|0.07957	.|.	1.212080|1.212080	0.05915|0.05915	N|N	0.632382|0.632382	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.21151	.|0.033;0.015	T|T	0.47497|0.47497	-0.9113|-0.9113	6|10	.|0.14656	.|T	.|0.56	-1.4918|-1.4918	8.5689|8.5689	0.33556|0.33556	0.6941:0.0:0.3059:0.0|0.6941:0.0:0.3059:0.0	.|.	.|955;1018	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	913|1018;955	.|ENSP00000297267:G1018R;ENSP00000342460:G955R	.|ENSP00000297267:G1018R	G|G	+|+	2|1	0|0	FNDC1|FNDC1	159574586|159574586	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.074000|0.074000	0.17049|0.17049	0.050000|0.050000	0.14120|0.14120	-0.150000|-0.150000	0.11195|0.11195	-0.291000|-0.291000	0.09656|0.09656	GGG|GGA		0.721	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		11	41	0	0	0	1	0	11	41					A	159654596	G	A	159654596	3	1	79	1	0	0	0	0	1	0	0	0	5993	1233	43	2	3094	2	FNDC1	6	159654596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	159654596	11460471	8028	18345											
FNDC1	84624	broad.mit.edu	37	chr6	159672509	159672509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggccgtggaaggttgCcactcatttgtcattgtgga	15	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1670	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGGTTGCCACTCATTTG	0.547																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5008-5010)tgC>tgT		fibronectin type III domain containing 1							61	59	60					6																	159672509		2045	4202	6247	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159672509C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5010C>T	6.37:g.159672509C>T						FNDC1_ENST00000340366.6_Silent_p.C1607C	p.C1670C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	17	5210	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1670			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.5010C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126630	0.20959	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.64	0.41730	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-25.3864	9.9334	0.41537	0.0:0.7665:0.0:0.2335	.	.	.	.	S	1566	.	.	P	+	1	0	FNDC1	159592499	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.426000	0.21363	1.264000	0.44198	0.585000	0.79938	CCA		0.547	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		17	103	0	0	0	1	0	17	103					T	159672509	C	T	159672509	2	4	79	1	0	0	0	0	0	0	0	1	5993	747	26	2		2	FNDC1	6	159672509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	159672509	11442558	8029	18346											
FNDC1	84624	broad.mit.edu	37	chr6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatctggatcccattcGctttcaaacatgatcccagc	6	14	2	1	rs374035084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1771					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATCCCATTCGCTTTCAAACA	0.483																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5311-5313)Gct>Act		fibronectin type III domain containing 1		G	THR/ALA	0,4032		0,0,2016	122	118	119		5311	0.1	1	6		119	1,8365		0,1,4182	no	missense	FNDC1	NM_032532.2	58	0,1,6198	AA,AG,GG		0.012,0.0,0.0081	benign	1771/1895	159687142	1,12397	2016	4183	6199	SO:0001583	missense	84624					extracellular region		g.chr6:159687142G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5311G>A	6.37:g.159687142G>A	ENSP00000297267:p.Ala1771Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	p.A1771T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5511	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1771					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5311G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248751|2.248751	0.39797|0.39797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.42131|.	0.98;0.98|.	5.87|5.87	0.12|0.12	0.14691|0.14691	.|.	0.495402|.	0.22578|.	N|.	0.058260|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.02011|0.02011	-0.69|-0.69	0.28659|0.28659	N|N	0.906227|0.906227	B|.	0.29037|.	0.231|.	B|.	0.15484|.	0.013|.	T|T	0.43475|0.43475	-0.9389|-0.9389	9|5	.|.	.|.	.|.	-10.6041|-10.6041	5.6712|5.6712	0.17723|0.17723	0.2619:0.0:0.4937:0.2444|0.2619:0.0:0.4937:0.2444	.|.	1771|.	Q4ZHG4|.	FNDC1_HUMAN|.	T|H	1771;1708|1666	ENSP00000297267:A1771T;ENSP00000342460:A1708T|.	.|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159607132|159607132	0.982000|0.982000	0.34865|0.34865	0.989000|0.989000	0.46669|0.46669	0.952000|0.952000	0.60782|0.60782	0.344000|0.344000	0.19962|0.19962	0.057000|0.057000	0.16193|0.16193	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		26	228	0	0	0	1	0	26	228					A	159687142	G	A	159687142	3	1	79	1	0	0	0	0	1	0	0	0	5993	1087	38	1	5393	1	FNDC1	6	159687142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14633	159687142	11427925	8030	18347											
WTAP	9589	broad.mit.edu	37	chr6	160164713	160164713	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagctaatgatgtaactggCctaagagagtctgaagaaaa	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160164713C>A	ENST00000358372.4	+	5	1919	c.162C>A	c.(160-162)ggC>ggA	p.G54G	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	54					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGTAACTGGCCTAAGAGAGT	0.368																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(160-162)ggC>ggA		Wilms tumor 1 associated protein							54	54	54					6																	160164713		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160164713C>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.162C>A	6.37:g.160164713C>A						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	5	1919	+		Breast(66;0.000776)|Ovarian(120;0.0303)	54					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.162C>A	CCDS5266.1																																																																																				0.368	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		6	260	1	0	0.217242	1	0.217458	6	260					A	160164713	C	A	160164713	2	1	79	1	0	0	0	0	0	0	0	1	17463	726	26	3		3	WTAP	6	160164713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477571	160164713	10950354	8031	18348											
PNLDC1	154197	broad.mit.edu	37	chr6	160225117	160225117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatggcttcaactataaCaaggtatggcattggaggag	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000610273.1	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000392167.3_Silent_p.N123N|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAACTATAACAAGGTATGGC	0.458																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(334-336)aaC>aaT		poly(A)-specific ribonuclease (PARN)-like domain containing 1							128	132	130					6																	160225117		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225117C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.336C>T	6.37:g.160225117C>T						PNLDC1_ENST00000392167.3_Silent_p.N123N	p.N112N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	507	+		Breast(66;0.00519)|Ovarian(120;0.123)	112					Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.336C>T	CCDS5271.1																																																																																				0.458	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		34	679	0	0	0	1	0	34	679					T	160225117	C	T	160225117	2	4	79	1	0	0	0	0	0	0	0	1	12190	477	17	2		2	PNLDC1	6	160225117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60404	160225117	10889950	8032	18349											
PNLDC1	154197	broad.mit.edu	37	chr6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagttcttttgaaagtggCacacttgcttctacagaaga	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000610273.1	+	15	1268	c.1097C>T	c.(1096-1098)gCa>gTa	p.A366V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	366						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAAGTGGCACACTTGCTT	0.388																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1096-1098)gCa>gTa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							219	198	205					6																	160238156		2203	4298	6501	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160238156C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1097C>T	6.37:g.160238156C>T	ENSP00000476448:p.Ala366Val					PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	p.A366V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	15	1268	+		Breast(66;0.00519)|Ovarian(120;0.123)	366					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1097C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020294	0.75275	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.58623	0.2135	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.74674	0.969;0.984	T	0.62718	-0.6795	9	0.56958	D	0.05	.	16.5757	0.84637	0.0:1.0:0.0:0.0	.	377;366	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	366;377	.	ENSP00000275275:A366V	A	+	2	0	PNLDC1	160158146	0.995000	0.38212	0.917000	0.36280	0.953000	0.61014	4.185000	0.58330	2.518000	0.84900	0.655000	0.94253	GCA		0.388	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		44	460	0	0	0	1	0	44	460					T	160238156	C	T	160238156	3	4	79	1	0	0	0	0	1	0	0	0	12190	710	25	2	1151	2	PNLDC1	6	160238156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13039	160238156	10876911	8033	18350											
PNLDC1	154197	broad.mit.edu	37	chr6	160240289	160240289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttgttttggcagtgcGcggaacatcctgaaggagta	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000610273.1	+	18	1575	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	PNLDC1_ENST00000392167.3_Silent_p.A479A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	468						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGGCAGTGCGCGGAACATCC	0.597																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1402-1404)gcG>gcA		poly(A)-specific ribonuclease (PARN)-like domain containing 1							97	74	82					6																	160240289		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240289G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1404G>A	6.37:g.160240289G>A						PNLDC1_ENST00000392167.3_Silent_p.A479A	p.A468A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	18	1575	+		Breast(66;0.00519)|Ovarian(120;0.123)	468					Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.1404G>A	CCDS5271.1																																																																																				0.597	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		8	221	0	0	0	1	0	8	221					A	160240289	G	A	160240289	2	1	79	1	0	0	0	0	0	0	0	1	12190	1074	38	1		1	PNLDC1	6	160240289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	160240289	10874778	8034	18351											
IGF2R	3482	broad.mit.edu	37	chr6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttggaggtgatgaatgcAgctcagggtttcagcggatg	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	421					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGATGAATGCAGCTCAGGGTT	0.443																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1261-1263)Agc>Cgc		insulin-like growth factor 2 receptor							142	129	133					6																	160455500		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160455500A>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1261A>C	6.37:g.160455500A>C	ENSP00000349437:p.Ser421Arg						p.S421R	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	10	1409	+		Breast(66;0.000777)|Ovarian(120;0.0305)	421					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1261A>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168410	0.57584	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.135082	0.64402	D	0.000003	T	0.09862	0.0242	M	0.86028	2.79	0.58432	D	0.999998	P	0.52316	0.952	P	0.51582	0.674	T	0.05451	-1.0884	10	0.35671	T	0.21	-12.1161	15.6029	0.76639	1.0:0.0:0.0:0.0	.	421	P11717	MPRI_HUMAN	R	421	ENSP00000349437:S421R	ENSP00000349437:S421R	S	+	1	0	IGF2R	160375490	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.739000	0.74827	2.090000	0.63153	0.533000	0.62120	AGC		0.443	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		35	478	0	0	0	1	0	35	478					C	160455500	A	C	160455500	3	2	79	1	0	0	0	0	1	0	0	0	7606	188	7	4	1299	4	IGF2R	6	160455500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	215211	160455500	10659567	8035	18352											
IGF2R	3482	broad.mit.edu	37	chr6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaattggaagccagcaaggCcagtcggaattgagaaaagc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1004					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCCAGCAAGGCCAGTCGGAAT	0.537																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3010-3012)Cca>Tca		insulin-like growth factor 2 receptor							126	118	120					6																	160480049		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160480049C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3010C>T	6.37:g.160480049C>T	ENSP00000349437:p.Pro1004Ser						p.P1004S	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	22	3158	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1004					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3010C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829125	0.16749	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.9	3.12	0.35913	Mannose-6-phosphate receptor, binding (1);	0.819431	0.11240	N	0.584753	T	0.01222	0.0040	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.45731	-0.9241	10	0.24483	T	0.36	-7.5375	12.2115	0.54381	0.1206:0.6412:0.2382:0.0	.	1004	P11717	MPRI_HUMAN	S	1004	ENSP00000349437:P1004S	ENSP00000349437:P1004S	P	+	1	0	IGF2R	160400039	0.425000	0.25498	0.093000	0.20910	0.005000	0.04900	0.873000	0.28052	0.268000	0.21939	-0.795000	0.03280	CCA		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		81	412	0	0	0	1	0	81	412					T	160480049	C	T	160480049	3	4	79	1	0	0	0	0	1	0	0	0	7606	739	26	2	3096	2	IGF2R	6	160480049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24549	160480049	10635018	8036	18353											
IGF2R	3482	broad.mit.edu	37	chr6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggattcacagctgcttAcagcgagaaggggttggttt	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1542					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACAGCTGCTTACAGCGAGAAG	0.547																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4624-4626)tAc>tGc		insulin-like growth factor 2 receptor							194	166	175					6																	160493851		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160493851A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4625A>G	6.37:g.160493851A>G	ENSP00000349437:p.Tyr1542Cys						p.Y1542C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	33	4773	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1542					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4625A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538926	0.45176	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.26	5.26	0.73747	Mannose-6-phosphate receptor, binding (1);	0.587979	0.18186	N	0.148968	T	0.06234	0.0161	M	0.75447	2.3	0.36227	D	0.852367	D	0.76494	0.999	D	0.74023	0.982	T	0.06716	-1.0811	10	0.52906	T	0.07	-7.7268	11.5057	0.50466	1.0:0.0:0.0:0.0	.	1542	P11717	MPRI_HUMAN	C	1542	ENSP00000349437:Y1542C	ENSP00000349437:Y1542C	Y	+	2	0	IGF2R	160413841	0.928000	0.31464	1.000000	0.80357	0.439000	0.31926	4.515000	0.60489	2.205000	0.71048	0.528000	0.53228	TAC		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	663	0	0	0	1	0	24	663					G	160493851	A	G	160493851	3	3	79	1	0	0	0	0	1	0	0	0	7606	391	14	4	4755	4	IGF2R	6	160493851	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13802	160493851	10621216	8037	18354											
IGF2R	3482	broad.mit.edu	37	chr6	160494321	160494321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggaccaggtcctgcaGctggtgtacaaggatgggtc	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1589					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGTCCTGCAGCTGGTGTACA	0.577																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4765-4767)caG>caA		insulin-like growth factor 2 receptor							186	144	158					6																	160494321		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494321G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4767G>A	6.37:g.160494321G>A							p.Q1589Q	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	34	4915	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1589					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.4767G>A	CCDS5273.1																																																																																				0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		22	229	0	0	0	1	0	22	229					A	160494321	G	A	160494321	2	1	79	1	0	0	0	0	0	0	0	1	7606	962	34	2		2	IGF2R	6	160494321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	470	160494321	10620746	8038	18355											
IGF2R	3482	broad.mit.edu	37	chr6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcgcgtttcactgtaagaGaggtgtgagcatggtaagtg	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1768					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CACTGTAAGAGAGGTGTGAGC	0.473																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5302-5304)aGa>aAa		insulin-like growth factor 2 receptor							176	161	166					6																	160497015		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160497015G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5303G>A	6.37:g.160497015G>A	ENSP00000349437:p.Arg1768Lys						p.R1768K	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	36	5451	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1768					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5303G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167333	0.78339	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.239713	0.40818	N	0.001003	T	0.01558	0.0050	L	0.45698	1.435	0.42957	D	0.994396	B	0.28439	0.212	B	0.38712	0.28	T	0.54807	-0.8238	10	0.12430	T	0.62	-6.6127	13.1296	0.59373	0.0834:0.0:0.9166:0.0	.	1768	P11717	MPRI_HUMAN	K	1768	ENSP00000349437:R1768K	ENSP00000349437:R1768K	R	+	2	0	IGF2R	160417005	1.000000	0.71417	0.904000	0.35570	0.901000	0.52897	4.728000	0.62000	2.637000	0.89404	0.655000	0.94253	AGA		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		110	477	0	0	0	1	0	110	477					A	160497015	G	A	160497015	3	1	79	1	0	0	0	0	1	0	0	0	7606	942	33	2	5445	2	IGF2R	6	160497015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2694	160497015	10618052	8039	18356											
SLC22A2	6582	broad.mit.edu	37	chr6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggaagacgatgcccaCgtagatgggcgcgaaggtag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366953.3	-	1	370	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.V17M	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	38					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACGATGCCCACGTAGATGGGC	0.607																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(49-51)Gtg>Atg		solute carrier family 22 (organic cation transporter), member 2							40	44	43					6																	160679678		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679678C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.112G>A	6.37:g.160679678C>T	ENSP00000355920:p.Val38Met					SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.V38M	p.V17M			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1530	-		Breast(66;0.000776)|Ovarian(120;0.0303)	38					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.49G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676933	0.67928	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.74	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.136685	0.48767	D	0.000163	T	0.70011	0.3175	L	0.39692	1.235	0.43574	D	0.995904	D;D;D	0.64830	0.988;0.97;0.994	P;B;P	0.54140	0.726;0.298;0.743	T	0.65549	-0.6141	10	0.25751	T	0.34	.	18.9747	0.92731	0.0:1.0:0.0:0.0	.	38;38;38	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	38;17	ENSP00000355920:V38M;ENSP00000355919:V17M	ENSP00000355919:V17M	V	-	1	0	SLC22A2	160599668	0.999000	0.42202	0.982000	0.44146	0.709000	0.40893	4.177000	0.58276	2.701000	0.92244	0.557000	0.71058	GTG		0.607	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		22	478	0	0	0	1	0	22	478					T	160679678	C	T	160679678	3	4	79	1	0	0	0	0	1	0	0	0	14500	536	19	1	1599	1	SLC22A2	6	160679678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182663	160679678	10435389	8040	18357											
SLC22A3	6581	broad.mit.edu	37	chr6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccgttggctgattactCggaagaaaggagataaagca	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000275300.2	+	5	1044	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCTGATTACTCGGAAGAAAGG	0.428																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(892-894)Cgg>Tgg		solute carrier family 22 (organic cation transporter), member 3							82	80	80					6																	160831795		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160831795C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.892C>T	6.37:g.160831795C>T	ENSP00000275300:p.Arg298Trp					SLC22A3_ENST00000275300.2_Missense_Mutation_p.R298W	p.R298W			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	5	919	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	298					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.892C>T	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834338	0.91036	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60424	0.19;0.19	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156570	0.45361	D	0.000380	T	0.71065	0.3296	M	0.69358	2.11	0.51233	D	0.999914	D	0.89917	1.0	D	0.79784	0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	18.1733	0.89753	0.0:1.0:0.0:0.0	.	298	O75751	S22A3_HUMAN	W	298	ENSP00000275300:R298W;ENSP00000375989:R298W	ENSP00000275300:R298W	R	+	1	2	SLC22A3	160751785	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.719000	0.61937	2.745000	0.94114	0.650000	0.86243	CGG		0.428	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	262	0	0	0	1	0	10	262					T	160831795	C	T	160831795	3	4	79	1	0	0	0	0	1	0	0	0	14505	875	31	1	910	1	SLC22A3	6	160831795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152117	160831795	10283272	8041	18358											
SLC22A3	6581	broad.mit.edu	37	chr6	160858179	160858179	+	Silent	SNP	C	C	T													gagcgccttggacgacgcctCccctttgcggcaagcaatat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000275300.2	+	7	1376	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000392145.1_Silent_p.L408L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	408					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GACGACGCCTCCCCTTTGCGG	0.522																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1222-1224)ctC>ctT		solute carrier family 22 (organic cation transporter), member 3							148	153	151					6																	160858179		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858179C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1224C>T	6.37:g.160858179C>T						SLC22A3_ENST00000275300.2_Silent_p.L408L	p.L408L			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1251	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	408					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1224C>T	CCDS5277.1																																																																																				0.522	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		184	788	0	0	0	1	0	184	788					T	160858179	C	T	160858179	2	4	79	1	0	0	0	0	0	0	0	1	14505	842	30	2		2	SLC22A3	6	160858179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26384	160858179	10256888	8042	18359	112	2									
SLC22A3	6581	broad.mit.edu	37	chr6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T													tggacgacgcctcccctttgCggcaagcaatatagtggcag					rs537020286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000275300.2	+	7	1384	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	411					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTCCCCTTTGCGGCAAGCAAT	0.502																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1231-1233)gCg>gTg		solute carrier family 22 (organic cation transporter), member 3							140	144	142					6																	160858187		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858187C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1232C>T	6.37:g.160858187C>T	ENSP00000275300:p.Ala411Val					SLC22A3_ENST00000275300.2_Missense_Mutation_p.A411V	p.A411V			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1259	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	411					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1232C>T	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495541	0.64186	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58652	0.32;0.47	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.63843	1.955	0.35287	D	0.78182	D	0.60160	0.987	P	0.45232	0.474	T	0.54899	-0.8224	10	0.41790	T	0.15	.	12.5881	0.56428	0.0:0.9242:0.0:0.0758	.	411	O75751	S22A3_HUMAN	V	411	ENSP00000275300:A411V;ENSP00000375989:A411V	ENSP00000275300:A411V	A	+	2	0	SLC22A3	160778177	0.987000	0.35691	0.000000	0.03702	0.974000	0.67602	2.768000	0.47645	2.756000	0.94617	0.655000	0.94253	GCG		0.502	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		159	757	0	0	0	1	0	159	757					T	160858187	C	T	160858187	3	4	79	1	0	0	0	0	1	0	0	0	14505	768	27	1	1258	1	SLC22A3	6	160858187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	160858187	10256880	8043	18360	112	2									
LPA	4018	broad.mit.edu	37	chr6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctggccaaatgctcaGcacaaatatacttatagtga	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000316300.5	-	38	5971	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000447678.1_Missense_Mutation_p.A1976V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4484	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5926-5928)gCt>gTt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						78	79	78					6																	160953597		2149	4279	6428	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953597G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5927C>T	6.37:g.160953597G>A	ENSP00000321334:p.Ala1976Val					LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.A1976V	p.A1976V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6047	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4484			Kringle 18.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5927C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486295	0.44147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.91124	-2.79;-2.79	1.93	1.93	0.25924	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93602	0.7957	M	0.83852	2.665	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	D	0.93468	0.6816	9	0.62326	D	0.03	.	11.4209	0.49980	0.0:0.0:1.0:0.0	.	4484	P08519	APOA_HUMAN	V	1976	ENSP00000321334:A1976V;ENSP00000395608:A1976V	ENSP00000321334:A1976V	A	-	2	0	LPA	160873587	1.000000	0.71417	0.075000	0.20258	0.024000	0.10985	7.310000	0.78947	1.412000	0.46977	0.184000	0.17185	GCT		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		35	260	0	0	0	1	0	35	260					A	160953597	G	A	160953597	3	1	79	1	0	0	0	0	1	0	0	0	8941	971	34	2	203	2	LPA	6	160953597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95410	160953597	10161470	8044	18361											
LPA	4018	broad.mit.edu	37	chr6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccatggtataacaccaaGgactaatctcagcatctgga	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000316300.5	-	23	3721	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000447678.1_Missense_Mutation_p.P1226H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3676-3678)cCt>cAt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						94	93	94					6																	161012086		2192	4300	6492	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161012086G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3677C>A	6.37:g.161012086G>T	ENSP00000321334:p.Pro1226His					LPA_ENST00000316300.5_Missense_Mutation_p.P1226H	p.P1226H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	24	3797	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3734			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3677C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642013	0.29157	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83914	-1.78;-1.78	2.23	2.23	0.28157	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.93245	0.7848	H	0.99697	4.71	0.25370	N	0.9887	D	0.89917	1.0	D	0.97110	1.0	D	0.84621	0.0684	9	0.72032	D	0.01	.	10.0796	0.42381	0.0:0.0:1.0:0.0	.	3734	P08519	APOA_HUMAN	H	1226	ENSP00000321334:P1226H;ENSP00000395608:P1226H	ENSP00000321334:P1226H	P	-	2	0	LPA	160932076	1.000000	0.71417	0.657000	0.29651	0.220000	0.24768	6.735000	0.74806	1.225000	0.43566	0.205000	0.17691	CCT		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		47	176	1	0	2.68985e-26	1	3.09749e-26	47	176					T	161012086	G	T	161012086	3	4	79	1	0	0	0	0	1	0	0	0	8941	1000	35	3	2513	3	LPA	6	161012086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58489	161012086	10102981	8045	18362											
LPA	4018	broad.mit.edu	37	chr6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccttcctgtgacagtgGtagagaatgagcctcgataa	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000316300.5	-	22	3589	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000447678.1_Missense_Mutation_p.T1182I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3690	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3544-3546)aCc>aTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						158	159	159					6																	161015074		2077	4253	6330	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015074G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3545C>T	6.37:g.161015074G>A	ENSP00000321334:p.Thr1182Ile					LPA_ENST00000316300.5_Missense_Mutation_p.T1182I	p.T1182I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3665	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3690			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3545C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	6.106	0.387885	0.11581	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.56	0.653	0.17828	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.57110	0.2031	M	0.62209	1.925	0.09310	N	1	D	0.65815	0.995	D	0.83275	0.996	T	0.42982	-0.9419	9	0.40728	T	0.16	.	4.8007	0.13296	0.3309:0.0:0.6691:0.0	.	3690	P08519	APOA_HUMAN	I	1182	ENSP00000321334:T1182I;ENSP00000395608:T1182I	ENSP00000321334:T1182I	T	-	2	0	LPA	160935064	0.657000	0.27393	0.009000	0.14445	0.060000	0.15804	0.101000	0.15251	-0.002000	0.14469	0.436000	0.28706	ACC		0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		103	455	0	0	0	1	0	103	455					A	161015074	G	A	161015074	3	1	79	1	0	0	0	0	1	0	0	0	8941	1261	44	2	2649	2	LPA	6	161015074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2988	161015074	10099993	8046	18363											
MAP3K4	4216	broad.mit.edu	37	chr6	161470912	161470912	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagacaaagcactgaagcaGatggggttaagaaagttaat	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1606-1608)caG>caA		mitogen-activated protein kinase kinase kinase 4							80	85	83					6																	161470912		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470912G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1608G>A	6.37:g.161470912G>A						MAP3K4_ENST00000348824.7_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q	p.Q536Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1756	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	536					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.1608G>A	CCDS34565.1																																																																																				0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			73	316	0	0	0	1	0	73	316					A	161470912	G	A	161470912	2	1	79	1	0	0	0	0	0	0	0	1	9293	933	33	2		2	MAP3K4	6	161470912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455838	161470912	9644155	8047	18364											
MAP3K4	4216	broad.mit.edu	37	chr6	161505595	161505595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttggcttacaggagaGctgtgctgaattttggacta	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	ENST00000392142.4	+	7	2466	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	773					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACAGGAGAGCTGTGCTGAA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2317-2319)aGc>aTc		mitogen-activated protein kinase kinase kinase 4							162	146	151					6																	161505595		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161505595G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2318G>T	6.37:g.161505595G>T	ENSP00000375986:p.Ser773Ile					MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I	p.S773I	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	7	2466	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	773					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2318G>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386766	0.82902	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71341	-0.56;-0.55;-0.55;-0.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.71771	-0.4492	10	0.36615	T	0.2	-20.1432	20.2284	0.98346	0.0:0.0:1.0:0.0	.	773;773;773	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	I	773	ENSP00000355886:S773I;ENSP00000375986:S773I;ENSP00000355887:S773I;ENSP00000297332:S773I	ENSP00000297332:S773I	S	+	2	0	MAP3K4	161425585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.642000	0.83385	2.785000	0.95823	0.650000	0.86243	AGC		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			15	352	1	0	7.93312e-07	1	8.20014e-07	15	352					T	161505595	G	T	161505595	3	4	79	1	0	0	0	0	1	0	0	0	9293	971	34	3	2344	3	MAP3K4	6	161505595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34683	161505595	9609472	8048	18365											
MAP3K4	4216	broad.mit.edu	37	chr6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcctatgaaggtacctcGatgccatagtgaccctccta	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1156					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1156Q(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468																																						ENST00000392142.4																			2	Substitution - Missense(2)	p.R1156Q(2)	endometrium(2)	breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3466-3468)cGa>cAa		mitogen-activated protein kinase kinase kinase 4							193	154	167					6																	161518151		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161518151G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3467G>A	6.37:g.161518151G>A	ENSP00000375986:p.Arg1156Gln					MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q	p.R1156Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	16	3615	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1156					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3467G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835979	0.97003	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73897	-0.79;-0.72;-0.62;-0.73	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;B;D;D	0.83275	0.928;0.186;0.99;0.996	T	0.76247	-0.3029	10	0.45353	T	0.12	-14.0529	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1152;142;1156;1156	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1156;1156;1156;1152;1152	ENSP00000355886:R1156Q;ENSP00000375986:R1156Q;ENSP00000355887:R1152Q;ENSP00000297332:R1152Q	ENSP00000297332:R1152Q	R	+	2	0	MAP3K4	161438141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	CGA		0.468	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			60	277	0	0	0	1	0	60	277					A	161518151	G	A	161518151	3	1	79	1	0	0	0	0	1	0	0	0	9293	1058	37	1	3529	1	MAP3K4	6	161518151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12556	161518151	9596916	8049	18366											
AGPAT4	56895	broad.mit.edu	37	chr6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcagggaagacccgcTcctgatcatgctgaccagga	12	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	332					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|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)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GAAGACCCGCTCCTGATCATG	0.632																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(994-996)Agc>Ggc		1-acylglycerol-3-phosphate O-acyltransferase 4							110	111	111					6																	161560502		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560502T>C	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.994A>G	6.37:g.161560502T>C	ENSP00000314036:p.Ser332Gly					AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	p.S332G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1206	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	332					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.994A>G	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851995	0.51270	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.34072	1.38	5.29	5.29	0.74685	.	0.096844	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78456	2.415	0.80722	D	1	B;B	0.29936	0.085;0.262	B;B	0.26864	0.074;0.053	T	0.29119	-1.0022	10	0.66056	D	0.02	-14.4341	15.2173	0.73277	0.0:0.0:0.0:1.0	.	170;332	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	G	332;170	ENSP00000314036:S332G	ENSP00000314036:S332G	S	-	1	0	AGPAT4	161480492	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.077000	0.71275	1.988000	0.58038	0.455000	0.32223	AGC		0.632	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		156	801	0	0	0	1	0	156	801					C	161560502	T	C	161560502	3	2	79	1	0	0	0	0	1	0	0	0	389	1551	54	4	150	4	AGPAT4	6	161560502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42351	161560502	9554565	8050	18367											
AGPAT4	56895	broad.mit.edu	37	chr6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggtggcaaccgtcttgcGatcctgctcccacttgcgcg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|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)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(454-456)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 4							144	126	132					6																	161575237		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575237G>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.454C>T	6.37:g.161575237G>A	ENSP00000314036:p.Arg152Cys					AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR	p.R152C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	666	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	152					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.454C>T	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195733|4.195733	0.78902|0.78902	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.91521|.	-2.86;-2.86|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49695|0.49695	0.1572|0.1572	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44946	1.0;1.0|0.846	D;D|B	0.73380|0.35899	0.98;0.973|0.213	T|T	0.66372|0.66372	-0.5940|-0.5940	10|8	0.87932|0.87932	D|D	0|0	-46.4133|-46.4133	12.3423|12.3423	0.55101|0.55101	0.0:0.0:0.8312:0.1687|0.0:0.0:0.8312:0.1687	.|.	152;152|95	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	C|L	152;90|95	ENSP00000314036:R152C;ENSP00000355873:R90C|.	ENSP00000314036:R152C|ENSP00000355878:S95L	R|S	-|-	1|2	0|0	AGPAT4|AGPAT4	161495227|161495227	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.867000|0.867000	0.49689|0.49689	6.093000|6.093000	0.71422|0.71422	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	CGC|TCG		0.562	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		81	349	0	0	0	1	0	81	349					A	161575237	G	A	161575237	3	1	79	1	0	0	0	0	1	0	0	0	389	1058	37	1	706	1	AGPAT4	6	161575237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14735	161575237	9539830	8051	18368											
AGPAT4	56895	broad.mit.edu	37	chr6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctgcagttgatcttcCggaagagctgcttgttaatg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	47					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|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)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTGATCTTCCGGAAGAGCTG	0.448																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(139-141)cGg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 4							117	104	108					6																	161653106		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161653106C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.140G>A	6.37:g.161653106C>T	ENSP00000314036:p.Arg47Gln					AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q	p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	2	352	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	47					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.140G>A	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025019	0.75390	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	.	0.054761	0.64402	D	0.000002	T	0.64148	0.2572	M	0.80028	2.48	0.80722	D	1	D;P;D;P	0.89917	1.0;0.852;1.0;0.47	D;B;D;B	0.91635	0.999;0.054;0.997;0.063	T	0.66976	-0.5787	10	0.66056	D	0.02	-41.1725	19.8351	0.96655	0.0:1.0:0.0:0.0	.	47;47;47;47	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	Q	47	ENSP00000355878:R47Q;ENSP00000314036:R47Q;ENSP00000407007:R47Q;ENSP00000355875:R47Q;ENSP00000355872:R47Q	ENSP00000314036:R47Q	R	-	2	0	AGPAT4	161573096	1.000000	0.71417	0.845000	0.33349	0.420000	0.31355	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	CGG		0.448	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		45	207	0	0	0	1	0	45	207					T	161653106	C	T	161653106	3	4	79	1	0	0	0	0	1	0	0	0	389	652	23	1	1028	1	AGPAT4	6	161653106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77869	161653106	9461961	8052	18369											
PARK2	5071	broad.mit.edu	37	chr6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgacgtctgtgcacGtaatgcaagtgatgttccga	10	10	1	2	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|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)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.T240M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20153	0.0		0.0	False		,,,				2504	0.001					ENST00000366898.1																			1	Substitution - Missense(1)	p.T240M(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39	GRCh37	CM030926|CM983422	PARK2	M	rs137853054	c.(718-720)aCg>aTg		parkin RBR E3 ubiquitin protein ligase		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	237	182	201	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	719,635,272	5.1	0.3	6	dbSNP_133	201	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	240/466,212/438,91/317	162394349	2,13004	2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162394349G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.719C>T	6.37:g.162394349G>A	ENSP00000355865:p.Thr240Met					PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M	p.T240M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	6	821	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	240		T -> M (in PARK; late onset).|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization).			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.719C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086777	0.55861	0.0	2.33E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.92858	-2.8;-2.91;-3.12;-2.51;-2.51;-2.88	5.14	5.14	0.70334	.	0.278693	0.35525	N	0.003154	D	0.92463	0.7607	L	0.56769	1.78	0.24015	N	0.99616	D;D;P;P;P	0.62365	0.991;0.965;0.933;0.884;0.94	P;P;B;B;B	0.59643	0.861;0.472;0.317;0.317;0.366	D	0.87630	0.2515	10	0.56958	D	0.05	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	240;91;212;240;49	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	240;212;91;49;49;49;240;161	ENSP00000355865:T240M;ENSP00000355863:T212M;ENSP00000355862:T91M;ENSP00000355860:T49M;ENSP00000343589:T49M;ENSP00000355858:T240M	ENSP00000343589:T49M	T	-	2	0	PARK2	162314339	0.987000	0.35691	0.299000	0.25016	0.867000	0.49689	6.594000	0.74104	2.550000	0.86006	0.650000	0.86243	ACG		0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			59	207	0	0	0	1	0	59	207					A	162394349	G	A	162394349	3	1	79	1	0	0	0	0	1	0	0	0	11491	1145	40	1	706	1	PARK2	6	162394349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741243	162394349	8720718	8053	18370											
PARK2	5071	broad.mit.edu	37	chr6	162622162	162622162	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacactgcatttccttaCctgggtcaaggtgagcgttg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|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)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTTCCTTACCTGGGTCAAG	0.468																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.e4+1		parkin RBR E3 ubiquitin protein ligase							103	92	95					6																	162622162		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622162C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.534+1G>A	6.37:g.162622162C>T						PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site		NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	637	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37		CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248666	0.80024	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3813	0.74658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	162542152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.883000	0.56168	2.688000	0.91661	0.643000	0.83706	.		0.468	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	68	276	0	0	0	1	0	68	276					T	162622162	C	T	162622162	5	4	79	1	0	0	0	0	0	0	1	0	11491	521	18	2	898	2	PARK2	6	162622162	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227813	162622162	8492905	8054	18371											
PACRG	135138	broad.mit.edu	37	chr6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaggtcctccagcatcTggttgtgtcagctgagatgg	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	175					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCAGCATCTGGTTGTGTCA	0.458																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(523-525)cTg>cGg		PARK2 co-regulated							150	128	136					6																	163510351		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163510351T>G	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.524T>G	6.37:g.163510351T>G	ENSP00000337946:p.Leu175Arg					PACRG_ENST00000366889.2_Missense_Mutation_p.L175R|PACRG_ENST00000366888.2_Missense_Mutation_p.L175R	p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	748	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	175					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.524T>G	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.659151|4.659151	0.88154|0.88154	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.73258|.	-0.67;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82135|0.82135	0.4971|0.4971	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.86591|0.86591	0.1860|0.1860	10|5	0.87932|.	D|.	0|.	-15.6516|-15.6516	15.8327|15.8327	0.78769|0.78769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;175|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	R|G	175|33	ENSP00000337946:L175R;ENSP00000355855:L175R;ENSP00000355854:L175R|.	ENSP00000337946:L175R|.	L|W	+|+	2|1	0|0	PACRG|PACRG	163430341|163430341	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.959000|0.959000	0.62525|0.62525	7.227000|7.227000	0.78070|0.78070	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTG|TGG		0.458	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		92	417	0	0	0	1	0	92	417					G	163510351	T	G	163510351	3	3	79	1	0	0	0	0	1	0	0	0	11412	1580	55	4	538	4	PACRG	6	163510351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888189	163510351	7604716	8055	18372											
QKI	9444	broad.mit.edu	37	chr6	163836318	163836318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctcatgagcagcctGcccaacttctgcgggatctt	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_ENST00000453779.2_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000361195.2_Silent_p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	31					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L31L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGAGCAGCCTGCCCAACTTCT	0.642																																						ENST00000361752.3																			1	Substitution - coding silent(1)	p.L31L(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(91-93)ctG>ctA		QKI, KH domain containing, RNA binding							93	91	92					6																	163836318		2203	4300	6503	SO:0001819	synonymous_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163836318G>A	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.93G>A	6.37:g.163836318G>A						QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000453779.2_Silent_p.L31L	p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	1	644	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	31					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	c.93G>A	CCDS5285.1																																																																																				0.642	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		61	297	0	0	0	1	0	61	297					A	163836318	G	A	163836318	2	1	79	1	0	0	0	0	0	0	0	1	12923	1306	46	2		2	QKI	6	163836318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325967	163836318	7278749	8056	18373											
C6orf118	168090	broad.mit.edu	37	chr6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctttctctcgtggcccgCggccgccttgctcccagtga	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000230301.8	-	2	747	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										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)		TCGTGGCCCGCGGCCGCCTTG	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(415-417)Gcg>Acg		chromosome 6 open reading frame 118							51	53	52					6																	165715084		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715084C>T		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.727G>A	6.37:g.165715084C>T	ENSP00000230301:p.Ala243Thr					C6orf118_ENST00000230301.8_Missense_Mutation_p.A243T	p.A139T			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	996	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	243					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.415G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836530	0.16891	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	4.92	-9.32	0.00643	.	3.383220	0.00839	N	0.001730	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.25984	-1.0116	10	0.14656	T	0.56	0.9594	7.83	0.29336	0.0:0.2349:0.4167:0.3484	.	243	Q5T5N4	CF118_HUMAN	T	243;139	ENSP00000230301:A243T;ENSP00000439288:A139T	ENSP00000230301:A243T	A	-	1	0	C6orf118	165635074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.956000	0.01522	-2.139000	0.00807	-1.239000	0.01543	GCG		0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		73	368	0	0	0	1	0	73	368					T	165715084	C	T	165715084	3	4	79	1	0	0	0	0	1	0	0	0	2330	768	27	1	714	1	C6orf118	6	165715084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878766	165715084	5399983	8057	18374											
C6orf118	168090	broad.mit.edu	37	chr6	165715502	165715502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagggcctccttcatcctCgccaccttccctgcgggcgg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										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)		CCTTCATCCTCGCCACCTTCC	0.682																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(307-309)gcG>gcA		chromosome 6 open reading frame 118							61	65	63					6																	165715502		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715502C>T		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.309G>A	6.37:g.165715502C>T						C6orf118_ENST00000543069.1_5'UTR	p.A103A	NM_144980.3	NP_659417.2	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	329	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.309G>A	CCDS5288.1																																																																																				0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		95	414	0	0	0	1	0	95	414					T	165715502	C	T	165715502	2	4	79	1	0	0	0	0	0	0	0	1	2330	871	31	1		1	C6orf118	6	165715502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	165715502	5399565	8058	18375											
C6orf118	168090	broad.mit.edu	37	chr6	165715758	165715758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggtcttcacgcctggcGtctcgcagtgcttccacttc	10	15	3	0	rs191807161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000230301.8	-	2	73	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	18								p.T18M(2)		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)		CACGCCTGGCGTCTCGCAGTG	0.512													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18336	0.0		0.0	False		,,,				2504	0.0					ENST00000543069.1																			2	Substitution - Missense(2)	p.T18M(2)	large_intestine(1)|prostate(1)	breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40								chromosome 6 open reading frame 118		G	MET/THR	0,4406		0,0,2203	51	55	53		53	-2.9	0	6		53	1,8599		0,1,4299	no	missense	C6orf118	NM_144980.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	18/470	165715758	1,13005	2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715758G>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.53C>T	6.37:g.165715758G>A	ENSP00000230301:p.Thr18Met					C6orf118_ENST00000230301.8_Missense_Mutation_p.T18M				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)	0	322	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)						Q8TC11	Translation_Start_Site	SNP	ENST00000230301.8	37		CCDS5288.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	9.290	1.050372	0.19827	0.0	1.16E-4	ENSG00000112539	ENST00000230301	T	0.13089	2.62	4.36	-2.87	0.05700	.	0.749003	0.12202	N	0.490169	T	0.02156	0.0067	L	0.31065	0.9	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43261	-0.9402	10	0.48119	T	0.1	.	1.2184	0.01918	0.4093:0.1572:0.2895:0.1439	.	18	Q5T5N4	CF118_HUMAN	M	18	ENSP00000230301:T18M	ENSP00000230301:T18M	T	-	2	0	C6orf118	165635748	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	0.098000	0.15189	-0.451000	0.07097	-0.224000	0.12420	ACG		0.512	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		68	315	0	0	0	1	0	68	315					A	165715758	G	A	165715758	3	1	79	1	0	0	0	0	1	0	0	0	2330	1145	40	1	1388	1	C6orf118	6	165715758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	165715758	5399309	8059	18376											
PDE10A	10846	broad.mit.edu	37	chr6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgctttcagaagaggctCcgtgggagggaggatctggg	18	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	739					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAAGAGGCTCCGTGGGAGGG	0.463																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2215-2217)Gag>Aag		phosphodiesterase 10A	Dipyridamole(DB00975)						94	88	90					6																	165749634		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749634C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2215G>A	6.37:g.165749634C>T	ENSP00000355847:p.Glu739Lys					PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K	p.E739K			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2369	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	739					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2215G>A		.	.	.	.	.	.	.	.	.	.	C	6.089	0.384630	0.11524	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76578	-1.03;-1.03	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.307106	0.39909	N	0.001232	T	0.39572	0.1083	N	0.11789	0.175	0.22918	N	0.998562	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.002	T	0.05767	-1.0865	10	0.07325	T	0.83	.	15.0715	0.72040	0.0:0.8585:0.1415:0.0	.	749;739	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	739;767;749;739;738	ENSP00000355847:E739K;ENSP00000346435:E739K	ENSP00000341187:E749K	E	-	1	0	PDE10A	165669624	0.766000	0.28496	0.470000	0.27216	0.695000	0.40330	1.776000	0.38594	2.681000	0.91329	0.655000	0.94253	GAG		0.463	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			24	141	0	0	0	1	0	24	141					T	165749634	C	T	165749634	3	4	79	1	0	0	0	0	1	0	0	0	11672	864	30	2	132	2	PDE10A	6	165749634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	165749634	5365433	8060	18377											
PDE10A	10846	broad.mit.edu	37	chr6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaaagtataaagcaaggtCtgtggcaatgatggctttgc	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	624					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGCAAGGTCTGTGGCAATG	0.403																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1870-1872)Gac>Tac		phosphodiesterase 10A	Dipyridamole(DB00975)						146	137	140					6																	165792768		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792768C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1870G>T	6.37:g.165792768C>A	ENSP00000355847:p.Asp624Tyr					PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y	p.D624Y			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	2024	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	624					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1870G>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991485	0.93106	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90844	-2.74;-2.74	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93854	3.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96914	0.9669	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;624	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	624;652;634;624;623	ENSP00000355847:D624Y;ENSP00000346435:D624Y	ENSP00000341187:D634Y	D	-	1	0	PDE10A	165712758	1.000000	0.71417	0.020000	0.16555	0.990000	0.78478	7.207000	0.77899	2.824000	0.97209	0.655000	0.94253	GAC		0.403	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			111	471	1	0	2.32112e-61	1	2.92237e-61	111	471					A	165792768	C	A	165792768	3	1	79	1	0	0	0	0	1	0	0	0	11672	913	32	3	489	3	PDE10A	6	165792768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	165792768	5322299	8061	18378											
PDE10A	10846	broad.mit.edu	37	chr6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcactctgagtggcgaattCtatgatacatctagaaggca	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.R420K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCGAATTCTATGATACAT	0.373																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.R420K(1)	lung(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1258-1260)aGa>aAa		phosphodiesterase 10A	Dipyridamole(DB00975)						145	127	133					6																	165809938		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165809938C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1259G>A	6.37:g.165809938C>T	ENSP00000355847:p.Arg420Lys					PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K	p.R420K			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1413	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	420					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1259G>A		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	PDE10A	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA		0.373	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			84	392	0	0	0	1	0	84	392					T	165809938	C	T	165809938	3	4	79	1	0	0	0	0	1	0	0	0	11672	913	32	2	1116	2	PDE10A	6	165809938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17170	165809938	5305129	8062	18379											
T	6862	broad.mit.edu	37	chr6	166580185	166580185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcggggtggatgtagacGcagctgggcgcctgcggctc	19	10	0	1	rs201970663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	122					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II 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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652									Chordoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0					ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(364-366)tgC>tgT		T, brachyury homolog (mouse)							50	55	53					6																	166580185		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580185G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.366C>T	6.37:g.166580185G>A						T_ENST00000366871.3_Silent_p.C122C	p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	834	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	122					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.366C>T	CCDS5290.1																																																																																				0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		38	617	0	0	0	1	0	38	617					A	166580185	G	A	166580185	2	1	79	1	0	0	0	0	0	0	0	1	15540	1079	38	1		1	T	6	166580185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770247	166580185	4534882	8063	18380											
RPS6KA2	6196	broad.mit.edu	37	chr6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaccttcaccaggtgcaCgtcctgtcggctgagctggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000265678.4	-	20	2285	c.2062G>A	c.(2062-2064)Gtg>Atg	p.V688M	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	688					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCAGGTGCACGTCCTGTCGG	0.577																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2137-2139)Gtg>Atg		ribosomal protein S6 kinase, 90kDa, polypeptide 2							102	79	86					6																	166827296		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166827296C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2062G>A	6.37:g.166827296C>T	ENSP00000265678:p.Val688Met					RPS6KA2_ENST00000265678.4_Missense_Mutation_p.V688M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M	p.V713M			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	22	2477	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	688					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.2137G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393308	0.42410	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.410486	0.24276	N	0.039959	T	0.22936	0.0554	L	0.40543	1.245	0.80722	D	1	B;B;D	0.61080	0.302;0.287;0.989	B;B;B	0.42087	0.029;0.064;0.375	T	0.02519	-1.1147	10	0.29301	T	0.29	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	713;696;688	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	688;713;696;599;599	ENSP00000265678:V688M;ENSP00000422435:V713M;ENSP00000427015:V696M;ENSP00000422484:V599M;ENSP00000386050:V599M	ENSP00000265678:V688M	V	-	1	0	RPS6KA2	166747286	0.979000	0.34478	0.934000	0.37439	0.863000	0.49368	3.460000	0.53028	2.245000	0.73994	0.478000	0.44815	GTG		0.577	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		23	163	0	0	0	1	0	23	163					T	166827296	C	T	166827296	3	4	79	1	0	0	0	0	1	0	0	0	13701	536	19	1	147	1	RPS6KA2	6	166827296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247111	166827296	4287771	8064	18381											
RPS6KA2	6196	broad.mit.edu	37	chr6	166864717	166864717	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcggggggacgccaggAgagtctgtaggtgacagggg	20	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000265678.4	-	13	1303	c.1080T>G	c.(1078-1080)tcT>tcG	p.S360S	RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000481261.2_Silent_p.S271S|RPS6KA2_ENST00000510118.1_Silent_p.S385S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	360	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACGCCAGGAGAGTCTGTAG	0.552																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1153-1155)tcT>tcG		ribosomal protein S6 kinase, 90kDa, polypeptide 2							103	102	103					6																	166864717		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166864717A>C	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1080T>G	6.37:g.166864717A>C						RPS6KA2_ENST00000265678.4_Silent_p.S360S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000481261.2_Silent_p.S271S	p.S385S			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	15	1495	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	360			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1155T>G	CCDS5294.1																																																																																				0.552	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		87	424	0	0	0	1	0	87	424					C	166864717	A	C	166864717	2	2	79	1	0	0	0	0	0	0	0	1	13701	291	11	4		4	RPS6KA2	6	166864717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37421	166864717	4250350	8065	18382											
RPS6KA2	6196	broad.mit.edu	37	chr6	166902391	166902391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccactgaggaactgCggcatccccagcttggctct	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000265678.4	-	10	1060	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000510118.1_Silent_p.P304P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537																																						ENST00000510118.1																			2	Substitution - coding silent(2)	p.P287P(1)|p.P279P(1)	large_intestine(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(910-912)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 2							46	45	46					6																	166902391		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166902391C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.837G>A	6.37:g.166902391C>T						RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P	p.P304P			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	12	1252	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	279			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.912G>A	CCDS5294.1																																																																																				0.537	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		20	111	0	0	0	1	0	20	111					T	166902391	C	T	166902391	2	4	79	1	0	0	0	0	0	0	0	1	13701	755	27	1		1	RPS6KA2	6	166902391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37674	166902391	4212676	8066	18383											
RPS6KA2	6196	broad.mit.edu	37	chr6	166912074	166912074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcgggcgccatgtactcGatcgtcccgcagaaggagta	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000265678.4	-	8	892	c.669C>T	c.(667-669)atC>atT	p.I223I	RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000481261.2_Silent_p.I134I|RPS6KA2_ENST00000510118.1_Silent_p.I248I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	223	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATGTACTCGATCGTCCCGC	0.597																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(742-744)atC>atT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							198	130	153					6																	166912074		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166912074G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.669C>T	6.37:g.166912074G>A						RPS6KA2_ENST00000265678.4_Silent_p.I223I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000481261.2_Silent_p.I134I	p.I248I			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	10	1084	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	223			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.744C>T	CCDS5294.1																																																																																				0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		73	298	0	0	0	1	0	73	298					A	166912074	G	A	166912074	2	1	79	1	0	0	0	0	0	0	0	1	13701	1048	37	1		1	RPS6KA2	6	166912074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9683	166912074	4202993	8067	18384											
RNASET2	8635	broad.mit.edu	37	chr6	167344532	167344532	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacataactgtctaacCtggcttggtggaaggcactg	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000508775.1	-	8	1086	c.567G>T	c.(565-567)caG>caT	p.Q189H	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Splice_Site_p.Q151H|RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000496851.2_5'Flank	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	189					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTGTCTAACCTGGCTTGGTG	0.418																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.e9+1		ribonuclease T2							161	152	155					6																	167344532		2203	4300	6503	SO:0001630	splice_region_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167344532C>A	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.567+1G>T	6.37:g.167344532C>A						RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Splice_Site_p.Q189_splice|RNASET2_ENST00000508775.1_Splice_Site_p.Q189_splice	p.Q151_splice			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	9	1128	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	189					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Splice_Site	SNP	ENST00000508775.1	37	c.453_splice	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379746	0.42207	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.5	4.5	0.54988	.	0.705587	0.14459	N	0.318337	D	0.82527	0.5056	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.925	T	0.81769	-0.0781	9	.	.	.	-17.1781	14.7166	0.69275	0.0:1.0:0.0:0.0	.	239;189	C9JIU8;O00584	.;RNT2_HUMAN	H	151;189;239;189;189	ENSP00000424947:Q151H;ENSP00000426455:Q189H;ENSP00000422846:Q189H;ENSP00000426059:Q189H	.	Q	-	3	2	RNASET2	167264522	1.000000	0.71417	0.212000	0.23672	0.083000	0.17756	3.989000	0.56958	2.045000	0.60652	0.563000	0.77884	CAG		0.418	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	Missense_Mutation	110	477	1	0	5.94134e-38	1	7.14835e-38	110	477					A	167344532	C	A	167344532	5	1	79	1	0	0	0	0	0	0	1	0	13468	695	24	3	211	3	RNASET2	6	167344532	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432458	167344532	3770535	8068	18385											
FGFR1OP	11116	broad.mit.edu	37	chr6	167416734	167416734	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttttaaataccaaagaCggtaagatgttcagtttgtt	8	4	1	2	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000476078.1_3'UTR|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"MPD, NHL"																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"MPD, NHL"		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.e3+1		FGFR1 oncogene partner		C	,	0,4406		0,0,2203	68	75	73		210,210	0.3	1	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC		0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167416734C>T	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.211+1C>T	6.37:g.167416734C>T						FGFR1OP_ENST00000349556.4_Splice_Site_p.D70_splice|FGFR1OP_ENST00000476078.1_3'UTR	p.D70_splice	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	3	441	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	70			LisH.		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Splice_Site	SNP	ENST00000366847.4	37	c.211_splice	CCDS5296.1																																																																																				0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent	26	179	0	0	0	1	0	26	179					T	167416734	C	T	167416734	5	4	79	1	0	0	0	0	0	0	1	0	5889	550	19	1	220	1	FGFR1OP	6	167416734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72202	167416734	3698333	8069	18386											
CCR6	1235	broad.mit.edu	37	chr6	167550300	167550300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacaacacccaaggcagCgatgtctgtgaacccaagta	8	11	1	1	rs201679638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	CCR6_ENST00000349984.4_Silent_p.S194S|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	194					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(580-582)agC>agT		chemokine (C-C motif) receptor 6							113	102	106					6																	167550300		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550300C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.582C>T	6.37:g.167550300C>T						CCR6_ENST00000400926.2_Silent_p.S194S|CCR6_ENST00000349984.4_Silent_p.S194S	p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1134	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	194					E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.582C>T	CCDS5298.1																																																																																				0.493	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			96	361	0	0	0	1	0	96	361					T	167550300	C	T	167550300	2	4	79	1	0	0	0	0	0	0	0	1	2954	767	27	1		1	CCR6	6	167550300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133566	167550300	3564767	8070	18387											
UNC93A	54346	broad.mit.edu	37	chr6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgtgggcaacttcttcGccagctggtacgcagccacc	10	16	2	0	rs376773048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(262-264)Gcc>Acc		unc-93 homolog A (C. elegans)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	151	142	145		262,262	3.7	0.8	6		145	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	88/416,88/458	167708179	2,13004	2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167708179G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.262G>A	6.37:g.167708179G>A	ENSP00000230256:p.Ala88Thr					UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T|UNC93A_ENST00000366830.2_3'UTR	p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	437	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	88					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.262G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491407	0.44249	0.0	2.33E-4	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.83673	-1.75;-1.75;-1.75	4.66	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);	0.115273	0.64402	D	0.000015	T	0.80984	0.4729	M	0.70275	2.135	0.49213	D	0.999765	P;P	0.48230	0.882;0.907	B;P	0.49276	0.418;0.605	T	0.82092	-0.0628	10	0.45353	T	0.12	-26.7025	13.2564	0.60081	0.0:0.1604:0.8396:0.0	.	88;88	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	88	ENSP00000421484:A88T;ENSP00000230256:A88T;ENSP00000355794:A88T	ENSP00000230256:A88T	A	+	1	0	UNC93A	167628169	0.991000	0.36638	0.833000	0.33012	0.410000	0.31052	2.345000	0.44018	2.124000	0.65301	0.313000	0.20887	GCC		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		63	772	0	0	0	1	0	63	772					A	167708179	G	A	167708179	3	1	79	1	0	0	0	0	1	0	0	0	17050	1087	38	1	268	1	UNC93A	6	167708179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157879	167708179	3406888	8071	18388											
MLLT4	4301	broad.mit.edu	37	chr6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaaggccagcgcatctcaGaaaccaccatgctgcagagt	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000447894.2	+	11	1435	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	479	FHA.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCGCATCTCAGAAACCACCAT	0.517			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1435-1437)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99	84	89					6																	168299002		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168299002G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1435G>T	6.37:g.168299002G>T	ENSP00000404595:p.Glu479*					MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*	p.E479*			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	11	1577	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	479			FHA.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.1435G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.003798|8.003798	0.98605|0.98605	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.052104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.52906|.	T|.	0.07|.	-39.2566|-39.2566	19.5218|19.5218	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	479;479;479;479;463;479;478;479|177	.|.	ENSP00000345834:E479X|.	E|R	+|+	1|2	0|0	MLLT4|MLLT4	168041851|168041851	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.919000|0.919000	0.55068|0.55068	9.607000|9.607000	0.98328|0.98328	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.517	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		11	198	1	0	2.80697e-09	1	2.95087e-09	11	198					T	168299002	G	T	168299002	4	4	79	1	0	0	0	0	0	1	0	0	9670	943	33	3	1477	3	MLLT4	6	168299002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590823	168299002	2816065	8072	18389											
MLLT4	4301	broad.mit.edu	37	chr6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattataaattatactaataGctctacagtccactttaagt	3	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000447894.2	+	15	1874	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	625					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATACTAATAGCTCTACAGTC	0.348			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1873-1875)aGc>aTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							93	97	96					6																	168312006		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168312006G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1874G>T	6.37:g.168312006G>T	ENSP00000404595:p.Ser625Ile					MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000447894.2_Missense_Mutation_p.S625I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I	p.S625I			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	15	2016	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	625					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.1874G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626529|4.626529	0.87560|0.87560	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.05025|.	3.71;3.62;3.71;3.72;3.51;3.62;3.62|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72301|.	0.3443|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.968;1.0;0.78;0.958|.	P;D;P;P|.	0.91635|.	0.661;0.999;0.673;0.772|.	T|.	0.71718|.	-0.4508|.	10|.	0.56958|.	D|.	0.05|.	-0.6453|-0.6453	19.2936|19.2936	0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;624;625;609|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	I|Y	625;625;625;625;609;625;624;625|323	ENSP00000341118:S625I;ENSP00000252692:S625I;ENSP00000375956:S625I;ENSP00000355771:S625I;ENSP00000375960:S609I;ENSP00000383623:S624I;ENSP00000404595:S625I|.	ENSP00000345834:S625I|.	S|X	+|+	2|3	0|2	MLLT4|MLLT4	168054855|168054855	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.983000|0.983000	0.72400|0.72400	9.273000|9.273000	0.95719|0.95719	2.554000|2.554000	0.86153|0.86153	0.467000|0.467000	0.42956|0.42956	AGC|TAG		0.348	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		71	421	1	0	4.81439e-37	1	5.77535e-37	71	421					T	168312006	G	T	168312006	3	4	79	1	0	0	0	0	1	0	0	0	9670	971	34	3	1932	3	MLLT4	6	168312006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13004	168312006	2803061	8073	18390											
MLLT4	4301	broad.mit.edu	37	chr6	168352003	168352003	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactggactccagtacCtctagccaggagcatctgaa	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000447894.2	+	29	3948	c.3948C>A	c.(3946-3948)acC>acA	p.T1316T	MLLT4_ENST00000366806.2_Silent_p.T1316T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000392108.3_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1316					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTCCAGTACCTCTAGCCAGG	0.512			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3946-3948)acC>acA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							92	102	99					6																	168352003		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352003C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3948C>A	6.37:g.168352003C>A						MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000447894.2_Silent_p.T1316T|MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000351017.4_Silent_p.T1323T	p.T1316T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4090	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1316					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.3948C>A																																																																																					0.512	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		111	427	1	0	7.0969e-38	1	8.53581e-38	111	427					A	168352003	C	A	168352003	2	1	79	1	0	0	0	0	0	0	0	1	9670	668	24	3		3	MLLT4	6	168352003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39997	168352003	2763064	8074	18391											
MLLT4	4301	broad.mit.edu	37	chr6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaggcaagaggaagagCgccggcggcaggaggaggag	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		1	Substitution - Missense(1)	p.R1634C(1)	kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4900-4902)Cgc>Tgc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89	112	104					6																	168363200		2029	4170	6199	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363200C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4900C>T	6.37:g.168363200C>T	ENSP00000404595:p.Arg1634Cys					MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C	p.R1634C			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5042	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1634					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4900C>T		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		118	617	0	0	0	1	0	118	617					T	168363200	C	T	168363200	3	4	79	1	0	0	0	0	1	0	0	0	9670	768	27	1	5130	1	MLLT4	6	168363200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	168363200	2751867	8075	18392											
FRMD1	79981	broad.mit.edu	37	chr6	168461613	168461613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaactgccgtggctgtcGgcggagtggcgtgagaggca	19	8	0	1	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	390						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTGGCTGTCGGCGGAGTGGC	0.642																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1168-1170)gcC>gcT		FERM domain containing 1							53	46	49					6																	168461613		2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168461613G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1170C>T	6.37:g.168461613G>A						FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000537786.1_Silent_p.A161A	p.A390A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1234	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	390					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.1170C>T	CCDS5306.1																																																																																				0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	292	0	0	0	1	0	29	292					A	168461613	G	A	168461613	2	1	79	1	0	0	0	0	0	0	0	1	6076	1103	39	1		1	FRMD1	6	168461613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98413	168461613	2653454	8076	18393											
FRMD1	79981	broad.mit.edu	37	chr6	168465674	168465674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcttcctcccggtgagcGcactgtgacctcagcacgcg	12	15	1	2	rs376956774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	175	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCGGTGAGCGCACTGTGACC	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(523-525)tgC>tgT		FERM domain containing 1		G	,	0,4406		0,0,2203	64	55	58		321,525	-0.3	0	6		58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	107/482,175/550	168465674	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168465674G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.525C>T	6.37:g.168465674G>A						FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000537786.1_5'UTR	p.C175C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	5	589	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	175			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.525C>T	CCDS5306.1																																																																																				0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	124	0	0	0	1	0	29	124					A	168465674	G	A	168465674	2	1	79	1	0	0	0	0	0	0	0	1	6076	1079	38	1		1	FRMD1	6	168465674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4061	168465674	2649393	8077	18394											
FRMD1	79981	broad.mit.edu	37	chr6	168479680	168479680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgcatgcaggcctctcaGgactgggttccatacatcgc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168479680G>T	ENST00000283309.6	-	1	159	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	32						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGCCTCTCAGGACTGGGTTC	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(94-96)cCt>cAt		FERM domain containing 1							67	65	66					6																	168479680		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168479680G>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.95C>A	6.37:g.168479680G>T	ENSP00000283309:p.Pro32His						p.P32H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	1	159	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	32					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.95C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163027	0.38217	.	.	ENSG00000153303	ENST00000283309;ENST00000511714	D	0.82619	-1.63	2.18	0.198	0.15168	.	.	.	.	.	T	0.62925	0.2468	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.56183	-0.8021	9	0.44086	T	0.13	.	4.3029	0.10933	0.5868:0.0:0.4132:0.0	.	32	Q8N878	FRMD1_HUMAN	H	32;74	ENSP00000283309:P32H	ENSP00000283309:P32H	P	-	2	0	FRMD1	168222529	0.013000	0.17824	0.012000	0.15200	0.117000	0.20001	1.721000	0.38032	0.205000	0.20568	0.313000	0.20887	CCT		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		18	436	1	0	9.16793e-09	1	9.60025e-09	18	436					T	168479680	G	T	168479680	3	4	79	1	0	0	0	0	1	0	0	0	6076	1000	35	3	1611	3	FRMD1	6	168479680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14006	168479680	2635387	8078	18395											
SMOC2	64094	broad.mit.edu	37	chr6	168949822	168949822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagatattgcatcacgTtaccctaccctttggactga	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000356284.2	+	7	796	c.576T>C	c.(574-576)cgT>cgC	p.R192R	SMOC2_ENST00000354536.5_Silent_p.R203R	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393																																						ENST00000354536.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(607-609)cgT>cgC		SPARC related modular calcium binding 2							183	154	164					6																	168949822		2203	4300	6503	SO:0001819	synonymous_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:168949822T>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.576T>C	6.37:g.168949822T>C						SMOC2_ENST00000356284.2_Silent_p.R192R	p.R203R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	7	829	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	192					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	c.609T>C	CCDS55076.1																																																																																				0.393	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			64	338	0	0	0	1	0	64	338					C	168949822	T	C	168949822	2	2	79	1	0	0	0	0	0	0	0	1	14852	1712	60	4		4	SMOC2	6	168949822	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470142	168949822	2165245	8079	18396											
THBS2	7058	broad.mit.edu	37	chr6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcattgttttcaggacacAcatcatcaatatctgggatg	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	947					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCAGGACACACATCATCAAT	0.428																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2839-2841)gTg>gGg		thrombospondin 2							146	124	132					6																	169623504		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623504A>C		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2840T>G	6.37:g.169623504A>C	ENSP00000355751:p.Val947Gly					THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.V947G	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3089	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	947					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2840T>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863967	0.71949	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	4.73	0.59995	.	0.000000	0.36972	U	0.002312	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.99445	1.0939	10	0.87932	D	0	-31.2608	14.2292	0.65879	1.0:0.0:0.0:0.0	.	947	P35442	TSP2_HUMAN	G	947;205	ENSP00000355751:V947G	ENSP00000355751:V947G	V	-	2	0	THBS2	169365429	1.000000	0.71417	0.996000	0.52242	0.777000	0.43975	6.838000	0.75359	1.747000	0.51819	0.386000	0.25728	GTG		0.428	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		69	373	0	0	0	1	0	69	373					C	169623504	A	C	169623504	3	2	79	1	0	0	0	0	1	0	0	0	15906	159	6	4	698	4	THBS2	6	169623504	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	673682	169623504	1491563	8080	18397											
THBS2	7058	broad.mit.edu	37	chr6	169625342	169625342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggcgtcgccctggcCgtctctgtcatggtcagcct	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	ENST00000366787.3	-	18	2920	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	891					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		tcgccctggccgtctctgtca	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2671-2673)Ggc>Agc		thrombospondin 2							216	184	195					6																	169625342		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169625342C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2671G>A	6.37:g.169625342C>T	ENSP00000355751:p.Gly891Ser					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G891S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	18	2920	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	891					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2671G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537232	0.65085	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98362	-4.89	4.99	4.99	0.66335	.	0.000000	0.41823	U	0.000803	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999992	D	0.89917	1.0	D	0.72625	0.978	D	0.99187	1.0869	10	0.87932	D	0	-58.2595	18.2818	0.90101	0.0:1.0:0.0:0.0	.	891	P35442	TSP2_HUMAN	S	891;149	ENSP00000355751:G891S	ENSP00000355751:G891S	G	-	1	0	THBS2	169367267	1.000000	0.71417	0.954000	0.39281	0.033000	0.12548	6.944000	0.75940	2.297000	0.77311	0.579000	0.79373	GGC		0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	117	0	0	0	1	0	21	117					T	169625342	C	T	169625342	3	4	79	1	0	0	0	0	1	0	0	0	15906	652	23	1	871	1	THBS2	6	169625342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	169625342	1489725	8081	18398											
THBS2	7058	broad.mit.edu	37	chr6	169632084	169632084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctcaccttgatgcaGtggtaggtggcgttggtggc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632084G>A	ENST00000366787.3	-	14	2391	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	714					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTTGATGCAGTGGTAGGTGG	0.726																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2140-2142)caC>caT		thrombospondin 2							59	52	54					6																	169632084		2203	4299	6502	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632084G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2142C>T	6.37:g.169632084G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.H714H	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2391	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	714					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2142C>T	CCDS34574.1																																																																																				0.726	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	261	0	0	0	1	0	6	261					A	169632084	G	A	169632084	2	1	79	1	0	0	0	0	0	0	0	1	15906	1020	36	2		2	THBS2	6	169632084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6742	169632084	1482983	8082	18399											
THBS2	7058	broad.mit.edu	37	chr6	169632164	169632164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccccgcagatgagccCgtcgcccgcgtagcctgtct	11	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632164C>T	ENST00000366787.3	-	14	2311	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	688	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGAGCCCGTCGCCCGCG	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2062-2064)Ggg>Agg		thrombospondin 2							137	114	122					6																	169632164		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632164C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2062G>A	6.37:g.169632164C>T	ENSP00000355751:p.Gly688Arg					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G688R	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2311	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	688			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2062G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875947	0.91664	.	.	ENSG00000186340	ENST00000366787	D	0.99909	-7.85	4.15	4.15	0.48705	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41605	U	0.000848	D	0.99951	0.9979	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95721	0.8766	10	0.87932	D	0	-35.7145	16.7836	0.85568	0.0:1.0:0.0:0.0	.	688	P35442	TSP2_HUMAN	R	688	ENSP00000355751:G688R	ENSP00000355751:G688R	G	-	1	0	THBS2	169374089	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.304000	0.78882	2.016000	0.59253	0.297000	0.19635	GGG		0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		87	393	0	0	0	1	0	87	393					T	169632164	C	T	169632164	3	4	79	1	0	0	0	0	1	0	0	0	15906	652	23	1	1496	1	THBS2	6	169632164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	169632164	1482903	8083	18400											
THBS2	7058	broad.mit.edu	37	chr6	169632237	169632237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccaggtagatgcactcCgcgtgcttgtggcagttgtg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632237C>T	ENST00000366787.3	-	14	2238	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	663	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGATGCACTCCGCGTGCTTGT	0.627																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1987-1989)gcG>gcA		thrombospondin 2							192	171	178					6																	169632237		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632237C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1989G>A	6.37:g.169632237C>T						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.A663A	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2238	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	663			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1989G>A	CCDS34574.1																																																																																				0.627	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		123	502	0	0	0	1	0	123	502					T	169632237	C	T	169632237	2	4	79	1	0	0	0	0	0	0	0	1	15906	639	23	1		1	THBS2	6	169632237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	169632237	1482830	8084	18401											
THBS2	7058	broad.mit.edu	37	chr6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgctcccggatcccacCggcacaggtgacagtgcagg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	512	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGATCCCACCGGCACAGGTG	0.677																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1534-1536)Ggt>Agt		thrombospondin 2							43	44	44					6																	169634946		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169634946C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1534G>A	6.37:g.169634946C>T	ENSP00000355751:p.Gly512Ser					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G512S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	11	1783	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	512			TSP type-1 3.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1534G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201210	0.58234	.	.	ENSG00000186340	ENST00000366787	T	0.51071	0.72	4.38	4.38	0.52667	.	0.000000	0.40469	U	0.001090	T	0.38532	0.1044	M	0.71871	2.18	0.58432	D	0.999993	P	0.36378	0.55	B	0.35278	0.199	T	0.51888	-0.8648	10	0.59425	D	0.04	-25.311	17.2925	0.87160	0.0:1.0:0.0:0.0	.	512	P35442	TSP2_HUMAN	S	512	ENSP00000355751:G512S	ENSP00000355751:G512S	G	-	1	0	THBS2	169376871	1.000000	0.71417	0.079000	0.20413	0.269000	0.26545	5.587000	0.67510	2.150000	0.67090	0.590000	0.80494	GGT		0.677	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		73	308	0	0	0	1	0	73	308					T	169634946	C	T	169634946	3	4	79	1	0	0	0	0	1	0	0	0	15906	652	23	1	2036	1	THBS2	6	169634946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2709	169634946	1480121	8085	18402											
WDR27	253769	broad.mit.edu	37	chr6	170058377	170058377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccctgtactgaccacgtCgctgttcactagcagccttg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170058377C>T	ENST00000448612.1	-	13	1506	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	WDR27_ENST00000333572.6_Missense_Mutation_p.R466Q|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	436						nucleus (GO:0005634)		p.R466L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGACCACGTCGCTGTTCACT	0.488																																						ENST00000333572.6																			2	Substitution - Missense(2)	p.R466L(2)	lung(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1396-1398)cGa>cAa		WD repeat domain 27							79	80	79					6																	170058377		2100	4224	6324	SO:0001583	missense	253769							g.chr6:170058377C>T	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1397G>A	6.37:g.170058377C>T	ENSP00000416289:p.Arg466Gln					WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R466Q	p.R466Q			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	13	1916	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	436					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1397G>A	CCDS47520.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.183|2.183	-0.387218|-0.387218	0.04932|0.04932	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;T	.|0.23950	.|1.98;2.2;1.88	4.56|4.56	-7.59|-7.59	0.01308|0.01308	.|.	.|0.607232	.|0.14213	.|N	.|0.333916	T|T	0.01092|0.01092	0.0036|0.0036	N|N	0.01188|0.01188	-0.97|-0.97	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.12013	.|0.002;0.0;0.002;0.005	.|B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001	T|T	0.35351|0.35351	-0.9792|-0.9792	5|10	.|0.09084	.|T	.|0.74	-1.0366|-1.0366	2.1689|2.1689	0.03845|0.03845	0.1201:0.3153:0.1222:0.4424|0.1201:0.3153:0.1222:0.4424	.|.	.|466;436;339;466	.|F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.|.;WDR27_HUMAN;.;.	N|Q	100|466;466;339	.|ENSP00000416289:R466Q;ENSP00000330265:R466Q;ENSP00000397869:R339Q	.|ENSP00000330265:R466Q	D|R	-|-	1|2	0|0	WDR27|WDR27	169800302|169800302	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.349000|-1.349000	0.02627|0.02627	-1.609000|-1.609000	0.01585|0.01585	-0.244000|-0.244000	0.11960|0.11960	GAC|CGA		0.488	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		6	33	0	0	0	1	0	6	33					T	170058377	C	T	170058377	3	4	79	1	0	0	0	0	1	0	0	0	17338	884	31	1	1228	1	WDR27	6	170058377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423431	170058377	1056690	8086	18403											
C6orf120	387263	broad.mit.edu	37	chr6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggatctgtacgtctccGccagcagcctgcaccccagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	82					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(244-246)Gcc>Acc		chromosome 6 open reading frame 120							54	48	50					6																	170102799		2202	4300	6502	SO:0001583	missense	387263					extracellular region		g.chr6:170102799G>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.244G>A	6.37:g.170102799G>A	ENSP00000346931:p.Ala82Thr					C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	p.A82T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	543	+		Breast(66;0.000338)	82					B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	37	c.244G>A	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886734	0.33348	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.24	5.24	0.73138	.	0.210963	0.38436	U	0.001699	T	0.06096	0.0158	N	0.11427	0.14	0.27201	N	0.960165	P;P	0.42039	0.769;0.473	B;B	0.24848	0.056;0.039	T	0.12734	-1.0536	9	0.59425	D	0.04	-24.4242	13.1613	0.59547	0.0:0.0:0.8403:0.1597	.	101;82	B4DJ79;Q7Z4R8	.;CF120_HUMAN	T	101;82	.	ENSP00000346931:A82T	A	+	1	0	C6orf120	169844724	1.000000	0.71417	0.841000	0.33234	0.015000	0.08874	7.443000	0.80521	2.591000	0.87537	0.561000	0.74099	GCC		0.662	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		84	277	0	0	0	1	0	84	277					A	170102799	G	A	170102799	3	1	79	1	0	0	0	0	1	0	0	0	2331	1087	38	1	246	1	C6orf120	6	170102799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44422	170102799	1012268	8087	18404											
C6orf120	387263	broad.mit.edu	37	chr6	170103014	170103014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctaccccgccgacggCgcagatgccggccagaagca	13	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000439249.1_Silent_p.G172G|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	153					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(457-459)ggC>ggT		chromosome 6 open reading frame 120							15	17	16					6																	170103014		2174	4270	6444	SO:0001819	synonymous_variant	387263					extracellular region		g.chr6:170103014C>T	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.459C>T	6.37:g.170103014C>T						C6orf120_ENST00000439249.1_Silent_p.G172G	p.G153G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	758	+		Breast(66;0.000338)	153					B4DHE9|E1P5C9	Silent	SNP	ENST00000332290.2	37	c.459C>T	CCDS34575.1																																																																																				0.607	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		20	115	0	0	0	1	0	20	115					T	170103014	C	T	170103014	2	4	79	1	0	0	0	0	0	0	0	1	2331	755	27	1		1	C6orf120	6	170103014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	170103014	1012053	8088	18405											
PHF10	55274	broad.mit.edu	37	chr6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatccctctttgctgtttTtcccccttctgcccactttc	3	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	WDR27_ENST00000448612.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000332290.2_3'UTR|WDR27_ENST00000420344.2_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	493					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTGCTGTTTTTCCCCCTTCT	0.378																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(1477-1479)aAa>aCa		PHD finger protein 10							80	78	79					6																	170104118		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170104118T>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1478A>C	6.37:g.170104118T>G	ENSP00000341805:p.Lys493Thr					C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T	p.K493T	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	12	1601	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	493					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.1478A>C	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89746	-2.56;-2.56	5.98	4.82	0.62117	.	0.084171	0.85682	D	0.000000	T	0.81777	0.4894	N	0.25485	0.75	0.41228	D	0.986557	D;P	0.56521	0.976;0.925	P;B	0.51615	0.675;0.346	D	0.84625	0.0686	10	0.72032	D	0.01	-27.1967	11.2224	0.48864	0.0:0.0711:0.0:0.9289	.	491;493	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	T	491;493	ENSP00000355743:K491T;ENSP00000341805:K493T	ENSP00000341805:K493T	K	-	2	0	PHF10	169846043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	1.093000	0.41377	0.533000	0.62120	AAA		0.378	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		43	179	0	0	0	1	0	43	179					G	170104118	T	G	170104118	3	3	79	1	0	0	0	0	1	0	0	0	11863	1841	64	4	22	4	PHF10	6	170104118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1104	170104118	1010949	8089	18406											
PHF10	55274	broad.mit.edu	37	chr6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgttcttgaagcatatAgtattctcctgtttcatcag	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	88					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGAAGCATATAGTATTCTCCT	0.303																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(262-264)Tat>Cat		PHD finger protein 10							78	84	82					6																	170118947		2203	4291	6494	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170118947A>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.262T>C	6.37:g.170118947A>G	ENSP00000341805:p.Tyr88His					PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H	p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	3	385	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	88					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.262T>C	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646541	0.87958	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.49	5.49	0.81192	.	.	.	.	.	T	0.45935	0.1367	M	0.69823	2.125	0.46376	D	0.999012	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.50882	-0.8775	9	0.87932	D	0	.	13.6157	0.62105	1.0:0.0:0.0:0.0	.	88;88	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	H	88	ENSP00000355743:Y88H;ENSP00000341805:Y88H	ENSP00000341805:Y88H	Y	-	1	0	PHF10	169860872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.594000	0.90836	2.199000	0.70637	0.455000	0.32223	TAT		0.303	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		78	371	0	0	0	1	0	78	371					G	170118947	A	G	170118947	3	3	79	1	0	0	0	0	1	0	0	0	11863	420	15	4	1274	4	PHF10	6	170118947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14829	170118947	996120	8090	18407											
C6orf70	55780	broad.mit.edu	37	chr6	170181441	170181441	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaggtttgtaaagtcgatCttgcagtacacggagaacct	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170181441C>A	ENST00000366773.3	+	18	1902	c.1869C>A	c.(1867-1869)atC>atA	p.I623I	ERMARD_ENST00000366772.2_Silent_p.I576I|ERMARD_ENST00000392095.4_Silent_p.I497I|ERMARD_ENST00000418781.3_Silent_p.I550I|ERMARD_ENST00000588451.1_Silent_p.I487I	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	623					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TAAAGTCGATCTTGCAGTACA	0.318																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1459-1461)atC>atA									78	70	73					6																	170181441		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170181441C>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1869C>A	6.37:g.170181441C>A						C6orf70_ENST00000366773.3_Silent_p.I623I|C6orf70_ENST00000418781.3_Silent_p.I550I|C6orf70_ENST00000392095.4_Silent_p.I497I|C6orf70_ENST00000366772.2_Silent_p.I576I	p.I487I			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	1974	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	623					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.1461C>A	CCDS34576.1																																																																																				0.318	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		41	129	1	0	8.01111e-26	1	9.20789e-26	41	129					A	170181441	C	A	170181441	2	1	79	1	0	0	0	0	0	0	0	1	2377	903	32	3		3	C6orf70	6	170181441	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62494	170181441	933626	8091	18408											
DLL1	28514	broad.mit.edu	37	chr6	170592486	170592486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgaagccattcttgtcGgcgctgtggtccccgtggaa	13	12	1	1	rs201096307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	627					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTCTTGTCGGCGCTGTGGT	0.607																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1879-1881)gcC>gcT		delta-like 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	229	191	204		1881	-7.9	0	6		204	0,8600		0,0,4300	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		627/724	170592486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592486G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1881C>T	6.37:g.170592486G>A							p.A627A	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2214	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	627					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1881C>T	CCDS5313.1																																																																																				0.607	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			118	575	0	0	0	1	0	118	575					A	170592486	G	A	170592486	2	1	79	1	0	0	0	0	0	0	0	1	4582	1103	39	1		1	DLL1	6	170592486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411045	170592486	522581	8092	18409											
DLL1	28514	broad.mit.edu	37	chr6	170592876	170592876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagcggtggcccctctcGtggcaggtggccccattgtg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	497	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCCCCTCTCGTGGCAGGTGG	0.701																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1489-1491)caC>caT		delta-like 1 (Drosophila)							13	14	14					6																	170592876		2187	4279	6466	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592876G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1491C>T	6.37:g.170592876G>A							p.H497H	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	1824	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	497			EGF-like 8.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1491C>T	CCDS5313.1																																																																																				0.701	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			13	50	0	0	0	1	0	13	50					A	170592876	G	A	170592876	2	1	79	1	0	0	0	0	0	0	0	1	4582	1136	40	1		1	DLL1	6	170592876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	170592876	522191	8093	18410											
FAM120B	84498	broad.mit.edu	37	chr6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttgctctaaagacactgGgccaggaaactttgtgttct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	149					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAAGACACTGGGCCAGGAAAC	0.458																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(445-447)Ggc>Tgc		family with sequence similarity 120B							81	78	79					6																	170626923		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626923G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.445G>T	6.37:g.170626923G>T	ENSP00000417970:p.Gly149Cys					FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000252510.9_Intron	p.G149C	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	553	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	149					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.445G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160760	0.57368	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56444	0.46;0.46;0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70718	-0.4795	10	0.87932	D	0	-23.9753	20.6593	0.99626	0.0:0.0:1.0:0.0	.	149;149	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	161;172;149	ENSP00000444125:G161C;ENSP00000440125:G172C;ENSP00000417970:G149C	ENSP00000436640:G149C	G	+	1	0	FAM120B	170468848	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	9.175000	0.94831	2.885000	0.99019	0.655000	0.94253	GGC		0.458	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		94	350	1	0	3.11363e-52	1	3.87178e-52	94	350					T	170626923	G	T	170626923	3	4	79	1	0	0	0	0	1	0	0	0	5438	1232	43	3	447	3	FAM120B	6	170626923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34047	170626923	488144	8094	18411											
FAM120B	84498	broad.mit.edu	37	chr6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagttcccatatgtacaGatcctatatccaagcaagaa	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	513					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CATATGTACAGATCCTATATC	0.388																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1537-1539)Gat>Aat		family with sequence similarity 120B							81	83	82					6																	170628015		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628015G>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1537G>A	6.37:g.170628015G>A	ENSP00000417970:p.Asp513Asn					FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000252510.9_Intron	p.D513N	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1645	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	513					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1537G>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571134	0.28003	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08282	3.12;3.11;3.13	2.48	2.48	0.30137	.	2.356560	0.01316	N	0.010789	T	0.12263	0.0298	L	0.56769	1.78	0.19575	N	0.999965	D;D	0.76494	0.999;0.978	D;P	0.68943	0.961;0.556	T	0.36792	-0.9733	10	0.21540	T	0.41	.	11.0653	0.47972	0.0:0.0:1.0:0.0	.	513;513	Q96EK7;F2Z2E1	F120B_HUMAN;.	N	525;536;513	ENSP00000444125:D525N;ENSP00000440125:D536N;ENSP00000417970:D513N	ENSP00000436640:D513N	D	+	1	0	FAM120B	170469940	0.014000	0.17966	0.011000	0.14972	0.029000	0.11900	0.501000	0.22578	1.683000	0.51011	0.561000	0.74099	GAT		0.388	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		73	400	0	0	0	1	0	73	400					A	170628015	G	A	170628015	3	1	79	1	0	0	0	0	1	0	0	0	5438	942	33	2	1539	2	FAM120B	6	170628015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1092	170628015	487052	8095	18412											
TBP	6908	broad.mit.edu	37	chr6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagggattcaggaagaCgacgtaatggctctcatgta	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000540980.1_Missense_Mutation_p.T318M|TBP_ENST00000230354.6_Missense_Mutation_p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	338					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(1012-1014)aCg>aTg		TATA box binding protein							120	111	114					6																	170881346		2203	4300	6503	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170881346C>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.1013C>T	6.37:g.170881346C>T	ENSP00000375942:p.Thr338Met					TBP_ENST00000230354.6_Missense_Mutation_p.T338M|TBP_ENST00000540980.1_Missense_Mutation_p.T318M	p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	8	1292	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	338					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.1013C>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235125	0.58886	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67197	-0.5731	9	0.54805	T	0.06	-13.7474	20.3932	0.98965	0.0:1.0:0.0:0.0	.	338	P20226	TBP_HUMAN	M	338;318;338;315	.	ENSP00000230354:T338M	T	+	2	0	TBP	170723271	1.000000	0.71417	0.968000	0.41197	0.397000	0.30659	7.224000	0.78042	2.824000	0.97209	0.655000	0.94253	ACG		0.393	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		59	328	0	0	0	1	0	59	328					T	170881346	C	T	170881346	3	4	79	1	0	0	0	0	1	0	0	0	15696	536	19	1	1039	1	TBP	6	170881346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253331	170881346	233721	8096	18413											
PRKAR1B	5575	broad.mit.edu	37	chr7	624175	624175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgctgaggaactcctCgtacatcttgcgtttcctca	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567																																						ENST00000406797.1																			1	Substitution - Missense(1)	p.E247K(1)	lung(1)	endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(739-741)Gag>Aag		protein kinase, cAMP-dependent, regulatory, type I, beta							151	108	122					7																	624175		2202	4295	6497	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:624175C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.739G>A	7.37:g.624175C>T	ENSP00000385749:p.Glu247Lys					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K	p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	8	913	-		Ovarian(82;0.0779)	247					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.739G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	PRKAR1B	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG		0.567	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			19	132	0	0	0	1	0	19	132					T	624175	C	T	624175	3	4	79	1	0	0	0	0	1	0	0	0	12551	893	31	1	422	1	PRKAR1B	7	624175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		624175	158514488	8097	18414											
PRKAR1B	5575	broad.mit.edu	37	chr7	720210	720210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcctgacgtaggacaCggcgtcctcctcggtgtaca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	111	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(331-333)Gtg>Atg		protein kinase, cAMP-dependent, regulatory, type I, beta							43	40	41					7																	720210		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720210C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.331G>A	7.37:g.720210C>T	ENSP00000385749:p.Val111Met					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M	p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	3	505	-		Ovarian(82;0.0779)	111			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.331G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447981	0.43429	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92495	-2.04;-2.04;-2.04;-2.04;-2.04;-3.04;-1.89;-3.05	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);	0.089401	0.44688	U	0.000437	D	0.86969	0.6061	L	0.29908	0.895	0.58432	D	0.999998	P	0.39551	0.678	B	0.33890	0.172	D	0.87960	0.2729	10	0.49607	T	0.09	-21.7663	18.0789	0.89436	0.0:1.0:0.0:0.0	.	111	P31321	KAP1_HUMAN	M	111;111;111;111;111;111;56;111	ENSP00000440449:V111M;ENSP00000444487:V111M;ENSP00000385749:V111M;ENSP00000385349:V111M;ENSP00000353415:V111M;ENSP00000402648:V111M;ENSP00000394633:V56M;ENSP00000406670:V111M	ENSP00000353415:V111M	V	-	1	0	PRKAR1B	686736	1.000000	0.71417	0.850000	0.33497	0.099000	0.18886	7.101000	0.76997	2.271000	0.75665	0.561000	0.74099	GTG		0.692	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			39	180	0	0	0	1	0	39	180					T	720210	C	T	720210	3	4	79	1	0	0	0	0	1	0	0	0	12551	536	19	1	850	1	PRKAR1B	7	720210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96035	720210	158418453	8098	18415											
HEATR2	54919	broad.mit.edu	37	chr7	796502	796502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcgacgctgaagaagacGccctctgcctccggcctcct	9	16	1	3	rs200587511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	447						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1339-1341)acG>acA		HEAT repeat containing 2							83	85	85					7																	796502		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:796502G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1341G>A	7.37:g.796502G>A						HEATR2_ENST00000313147.5_Silent_p.T447T	p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1361	+		Ovarian(82;0.0112)	447					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1341G>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906673	0.02434	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.21325	N	0.99972	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	-5.2294	8.587	0.33664	0.6847:0.0758:0.088:0.1516	.	.	.	.	T	249	.	.	A	+	1	0	HEATR2	763028	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	-0.928000	0.03980	-2.750000	0.00375	-0.749000	0.03505	GCC		0.622	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		81	393	0	0	0	1	0	81	393					A	796502	G	A	796502	2	1	79	1	0	0	0	0	0	0	0	1	7058	1074	38	1		1	HEATR2	7	796502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76292	796502	158342161	8099	18416											
HEATR2	54919	broad.mit.edu	37	chr7	801405	801405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggacctctacctggagCgcctgctgctgtgtgtgcag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1486-1488)Cgc>Tgc		HEAT repeat containing 2							89	63	72					7																	801405		2201	4300	6501	SO:0001583	missense	54919						protein binding	g.chr7:801405C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1486C>T	7.37:g.801405C>T	ENSP00000297440:p.Arg496Cys					HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	7	1506	+		Ovarian(82;0.0112)	496					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1486C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842869|2.842869	0.51057|0.51057	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.31510	.|1.49;1.49	5.38|5.38	2.45|2.45	0.29901|0.29901	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320952	.|0.33895	.|N	.|0.004444	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.32099|0.32099	N|N	0.590828|0.590828	.|D;D	.|0.63046	.|0.987;0.992	.|B;P	.|0.49502	.|0.409;0.613	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.45353	.|T	.|0.12	-17.9518|-17.9518	8.198|8.198	0.31409|0.31409	0.3049:0.621:0.0:0.0741|0.3049:0.621:0.0:0.0741	.|.	.|496;242	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	297|496;496;242	.|ENSP00000297440:R496C;ENSP00000321451:R496C	.|ENSP00000297440:R496C	A|R	+|+	2|1	0|0	HEATR2|HEATR2	767931|767931	0.999000|0.999000	0.42202|0.42202	0.913000|0.913000	0.36048|0.36048	0.296000|0.296000	0.27459|0.27459	1.696000|1.696000	0.37773|0.37773	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.587	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		17	52	0	0	0	1	0	17	52					T	801405	C	T	801405	3	4	79	1	0	0	0	0	1	0	0	0	7058	768	27	1	1512	1	HEATR2	7	801405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4903	801405	158337258	8100	18417											
HEATR2	54919	broad.mit.edu	37	chr7	814759	814759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttcttaaaaacctcgggCggcatgacggatccagagaa	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2197-2199)ggC>ggT		HEAT repeat containing 2							109	103	105					7																	814759		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:814759C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2199C>T	7.37:g.814759C>T			OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	p.G733G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	11	2219	+		Ovarian(82;0.0112)	733					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.2199C>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037850	0.08148	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.15	-6.33	0.01988	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	-8.5751	11.3342	0.49494	0.0:0.2364:0.6131:0.1504	.	.	.	.	W	535	.	.	R	+	1	2	HEATR2	781285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.031000	0.03308	-0.367000	0.07326	CGG		0.512	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		45	194	0	0	0	1	0	45	194					T	814759	C	T	814759	2	4	79	1	0	0	0	0	0	0	0	1	7058	755	27	1		1	HEATR2	7	814759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	814759	158323904	8101	18418											
HEATR2	54919	broad.mit.edu	37	chr7	825229	825229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcatccacaagcaccGctcggccacctactgcgagc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2506-2508)cGc>cAc		HEAT repeat containing 2							72	69	70					7																	825229		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:825229G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2507G>A	7.37:g.825229G>A	ENSP00000297440:p.Arg836His					HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	p.R836H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	13	2527	+		Ovarian(82;0.0112)	836					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.2507G>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	HEATR2	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		104	396	0	0	0	1	0	104	396					A	825229	G	A	825229	3	1	79	1	0	0	0	0	1	0	0	0	7058	1087	38	1	2557	1	HEATR2	7	825229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10470	825229	158313434	8102	18419											
SUN1	23353	broad.mit.edu	37	chr7	881707	881707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggatgctgtgactcgaCggcctcctgtattggacgag	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000405266.1	+	3	415	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(565-567)Cgg>Tgg		Sad1 and UNC84 domain containing 1							80	82	81					7																	881707		2093	4222	6315	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:881707C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.391C>T	7.37:g.881707C>T	ENSP00000384116:p.Arg131Trp					SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000405266.1_Missense_Mutation_p.R131W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W	p.R189W			O94901	SUN1_HUMAN			6	565	+			131					A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.565C>T		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248255	0.59103	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.55	2.37	0.29283	.	1.239010	0.05371	N	0.535383	T	0.62307	0.2417	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.993;0.98	P;D;D;P;P	0.75484	0.536;0.939;0.986;0.685;0.502	T	0.35001	-0.9806	10	0.54805	T	0.06	-19.1256	4.5681	0.12196	0.3475:0.4667:0.1049:0.0809	.	131;131;152;81;131	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	W	189;81;152;131;131;131;131;131;131;131;81;106	ENSP00000388743:R189W;ENSP00000374225:R81W;ENSP00000395952:R152W;ENSP00000413439:R131W;ENSP00000388430:R131W;ENSP00000413188:R131W;ENSP00000384116:R131W;ENSP00000384015:R131W;ENSP00000383947:R131W;ENSP00000392309:R81W;ENSP00000392595:R106W	ENSP00000297445:R131W	R	+	1	2	SUN1	848233	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.225000	0.09151	0.668000	0.31126	0.563000	0.77884	CGG		0.557	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		56	230	0	0	0	1	0	56	230					T	881707	C	T	881707	3	4	79	1	0	0	0	0	1	0	0	0	15443	527	19	1	468	1	SUN1	7	881707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56478	881707	158256956	8103	18420											
SUN1	23353	broad.mit.edu	37	chr7	897557	897557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagctggcgacacgtgaAgaccggctgtgagacagtgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000405266.1	+	14	1622	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	523					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2053-2055)aAg>aCg		Sad1 and UNC84 domain containing 1							131	144	140					7																	897557		2022	4169	6191	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897557A>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1598A>C	7.37:g.897557A>C	ENSP00000384116:p.Lys533Thr					SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000405266.1_Missense_Mutation_p.K533T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T	p.K685T			O94901	SUN1_HUMAN			19	2054	+			523			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2054A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138399|2.138399	0.37728|0.37728	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.27557	.|2.05;2.07;2.08;2.08;2.08;2.07;1.73;1.66	5.15|5.15	-0.28|-0.28	0.12886|0.12886	.|.	.|0.638636	.|0.17424	.|N	.|0.174706	T|T	0.41073|0.41073	0.1143|0.1143	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;B;P;D;P;P	.|0.59767	.|0.865;0.159;0.722;0.986;0.868;0.953	.|P;B;P;P;B;P	.|0.60949	.|0.675;0.379;0.488;0.881;0.316;0.766	T|T	0.21827|0.21827	-1.0234|-1.0234	5|10	.|0.66056	.|D	.|0.02	-14.0397|-14.0397	5.5309|5.5309	0.16985|0.16985	0.6499:0.1335:0.2167:0.0|0.6499:0.1335:0.2167:0.0	.|.	.|294;393;496;685;523;413	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|T	344|685;413;393;533;496;523;413;421;294	.|ENSP00000388743:K685T;ENSP00000374225:K413T;ENSP00000413439:K393T;ENSP00000384116:K533T;ENSP00000384015:K496T;ENSP00000392309:K413T;ENSP00000409909:K421T;ENSP00000389313:K294T	.|ENSP00000297445:K523T	E|K	+|+	3|2	2|0	SUN1|SUN1	864083|864083	0.101000|0.101000	0.21875|0.21875	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.341000|0.341000	0.19909|0.19909	-0.214000|-0.214000	0.10078|0.10078	-0.274000|-0.274000	0.10170|0.10170	GAA|AAG		0.478	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		75	840	0	0	0	1	0	75	840					C	897557	A	C	897557	3	2	79	1	0	0	0	0	1	0	0	0	15443	72	3	4	1720	4	SUN1	7	897557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15850	897557	158241106	8104	18421											
CYP2W1	54905	broad.mit.edu	37	chr7	1024606	1024606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttcttctcatctgggGcgcgctggagggctgcccgc	14	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1024606G>A	ENST00000308919.7	+	3	371	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A64T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	120					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCATCTGGGGCGCGCTGGAG	0.657																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(190-192)Gcg>Acg		cytochrome P450, family 2, subfamily W, polypeptide 1							34	41	39					7																	1024606		2201	4296	6497	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024606G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.358G>A	7.37:g.1024606G>A	ENSP00000310149:p.Ala120Thr					CYP2W1_ENST00000308919.7_Missense_Mutation_p.A120T	p.A64T			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	212	+		Ovarian(82;0.0112)	120						Missense_Mutation	SNP	ENST00000308919.7	37	c.190G>A	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823827	0.32237	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.79454	-1.27;-1.27	4.95	-3.52	0.04682	.	0.687765	0.14946	N	0.289225	T	0.65048	0.2654	N	0.20530	0.585	0.09310	N	1	B;B	0.33345	0.409;0.409	B;B	0.38755	0.281;0.158	T	0.60151	-0.7319	10	0.48119	T	0.1	.	15.0167	0.71591	0.0767:0.2303:0.693:0.0	.	64;120	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	T	120;64	ENSP00000310149:A120T;ENSP00000344178:A64T	ENSP00000310149:A120T	A	+	1	0	CYP2W1	991132	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.068000	0.14531	-0.155000	0.11098	0.491000	0.48974	GCG		0.657	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	326	0	0	0	1	0	9	326					A	1024606	G	A	1024606	3	1	79	1	0	0	0	0	1	0	0	0	4187	1203	42	2	368	2	CYP2W1	7	1024606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127049	1024606	158114057	8105	18422											
GPER	2852	broad.mit.edu	37	chr7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccaacaccacctcccccGagctcaacctgtcccacccg	4	25	1	0	rs201954771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131452G>A	ENST00000297469.3	+	2	779	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.E30K|GPER1_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	30					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CACCTCCCCCGAGCTCAACCT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15039	0.0		0.001	False		,,,				2504	0.0					ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(88-90)Gag>Aag					LYS/GLU,LYS/GLU,,,LYS/GLU,	0,4404		0,0,2202	45	44	44		88,88,,,88,	4.6	0	7		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	56,56,,,56,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,,benign,	30/376,30/376,,,30/376,	1131452	1,13003	2202	4300	6502	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131452G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.88G>A	7.37:g.1131452G>A	ENSP00000297469:p.Glu30Lys					GPER_ENST00000297469.3_Missense_Mutation_p.E30K|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.E30K	p.E30K	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	972	+		Ovarian(82;0.0253)	30					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.88G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239351	0.39598	0.0	1.16E-4	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67698	-0.28;0.86;-0.28;-0.28;-0.28	4.63	4.63	0.57726	.	0.400119	0.21712	N	0.070254	T	0.47525	0.1450	L	0.27053	0.805	0.09310	N	1	B	0.27416	0.178	B	0.17098	0.017	T	0.23440	-1.0188	10	0.13470	T	0.59	.	10.1473	0.42771	0.1044:0.0:0.8956:0.0	.	30	Q99527	GPER_HUMAN	K	30	ENSP00000385151:E30K;ENSP00000410487:E30K;ENSP00000380281:E30K;ENSP00000297469:E30K;ENSP00000380277:E30K	ENSP00000297469:E30K	E	+	1	0	GPER	1097978	0.092000	0.21681	0.003000	0.11579	0.003000	0.03518	1.538000	0.36094	2.144000	0.66660	0.655000	0.94253	GAG		0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		44	294	0	0	0	1	0	44	294					A	1131452	G	A	1131452	3	1	79	1	0	0	0	0	1	0	0	0	6636	1059	37	1	90	1	GPER	7	1131452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106846	1131452	158007211	8106	18423											
GPER	2852	broad.mit.edu	37	chr7	1131792	1131792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtcaacatgtacaGcagcgtcttcttcctcacct	7	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131792G>A	ENST00000297469.3	+	2	1119	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.S143N|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.S143N|GPER1_ENST00000401670.1_Missense_Mutation_p.S143N|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	143				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										AACATGTACAGCAGCGTCTTC	0.612																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(427-429)aGc>aAc									151	109	123					7																	1131792		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131792G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.428G>A	7.37:g.1131792G>A	ENSP00000297469:p.Ser143Asn					GPER_ENST00000297469.3_Missense_Mutation_p.S143N|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.S143N|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.S143N	p.S143N	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1312	+		Ovarian(82;0.0253)	143	NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).				A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.428G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476454	0.84640	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.80982	2.52	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.88794	0.3280	10	0.87932	D	0	-34.1675	17.8628	0.88786	0.0:0.0:1.0:0.0	.	143	Q99527	GPER_HUMAN	N	143	ENSP00000385151:S143N;ENSP00000380281:S143N;ENSP00000297469:S143N;ENSP00000380277:S143N	ENSP00000297469:S143N	S	+	2	0	GPER	1098318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.204000	0.77872	2.466000	0.83321	0.643000	0.83706	AGC		0.612	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		122	468	0	0	0	1	0	122	468					A	1131792	G	A	1131792	3	1	79	1	0	0	0	0	1	0	0	0	6636	971	34	2	430	2	GPER	7	1131792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	1131792	158006871	8107	18424											
MICALL2	79778	broad.mit.edu	37	chr7	1477814	1477814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctcgatgtcctgcaGctgcctctgtatctcctccg	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	ENST00000297508.7	-	12	2405	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	744	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGTCCTGCAGCTGCCTCTGT	0.731																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2230-2232)Ctg>Atg		MICAL-like 2							9	11	11					7																	1477814		2160	4257	6417	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1477814G>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2230C>A	7.37:g.1477814G>T	ENSP00000297508:p.Leu744Met					MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M|MICALL2_ENST00000471899.1_5'UTR	p.L744M	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	12	2405	-		Ovarian(82;0.0253)	744					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2230C>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604029	0.28534	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.52983	0.64;0.64	3.95	-7.9	0.01169	Domain of unknown function DUF3585 (1);	1.590950	0.04597	N	0.397852	T	0.33498	0.0865	N	0.21097	0.63	0.32570	N	0.529911	B;P	0.44195	0.149;0.828	B;B	0.43445	0.058;0.42	T	0.51718	-0.8670	10	0.59425	D	0.04	.	9.0367	0.36291	0.0:0.1679:0.4919:0.3401	.	744;532	Q8IY33;D3YTD2	MILK2_HUMAN;.	M	532;744	ENSP00000385928:L532M;ENSP00000297508:L744M	ENSP00000297508:L744M	L	-	1	2	MICALL2	1444340	0.093000	0.21703	0.701000	0.30321	0.214000	0.24535	-0.414000	0.07114	-1.946000	0.01035	-0.519000	0.04390	CTG		0.731	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		9	30	1	0	0.00621372	1	0.0062537	9	30					T	1477814	G	T	1477814	3	4	79	1	0	0	0	0	1	0	0	0	9615	962	34	3	508	3	MICALL2	7	1477814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	346022	1477814	157660849	8108	18425											
INTS1	26173	broad.mit.edu	37	chr7	1519141	1519141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacatcaccagggcaccGccgtgtggggagctgagcag	16	11	1	1	rs201592498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1519141G>A	ENST00000404767.3	-	31	4339	c.4254C>T	c.(4252-4254)ggC>ggT	p.G1418G	INTS1_ENST00000389470.4_Silent_p.G1617G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1418					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGGCACCGCCGTGTGGGG	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		15110	0.0		0.001	False		,,,				2504	0.0					ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(4849-4851)ggC>ggT		integrator complex subunit 1				1,4225		0,1,2112	10	15	13		4254	-10	0	7		13	21,8407		0,21,4193	no	coding-synonymous	INTS1	NM_001080453.2		0,22,6305	AA,AG,GG		0.2492,0.0237,0.1739		1418/2191	1519141	22,12632	2113	4214	6327	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1519141G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4254C>T	7.37:g.1519141G>A						INTS1_ENST00000404767.3_Silent_p.G1418G	p.G1617G			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	32	4850	-		Ovarian(82;0.0253)	1418					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.4851C>T	CCDS47526.1																																																																																				0.711	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			7	32	0	0	0	1	0	7	32					A	1519141	G	A	1519141	2	1	79	1	0	0	0	0	0	0	0	1	7805	1074	38	1		1	INTS1	7	1519141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41327	1519141	157619522	8109	18426											
INTS1	26173	broad.mit.edu	37	chr7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatagccctgcagcacatCtgtgtcccccacatcctcct	6	18	1	1	rs200114821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000404767.3	-	23	3146	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1021					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3547-3549)Gat>Aat		integrator complex subunit 1							47	60	56					7																	1525021		2105	4220	6325	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1525021C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3061G>A	7.37:g.1525021C>T	ENSP00000385722:p.Asp1021Asn					INTS1_ENST00000404767.3_Missense_Mutation_p.D1021N	p.D1183N			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	24	3546	-		Ovarian(82;0.0253)	1021					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3547G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535348	0.27475	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44083	0.97;0.93	5.2	4.32	0.51571	.	0.101878	0.64402	D	0.000003	T	0.30510	0.0767	N	0.22421	0.69	0.35414	D	0.792645	B;B	0.26258	0.145;0.036	B;B	0.23716	0.048;0.03	T	0.36504	-0.9745	10	0.52906	T	0.07	.	13.3633	0.60669	0.0:0.924:0.0:0.076	.	1189;1021	A4D213;Q8N201	.;INT1_HUMAN	N	1021;1183	ENSP00000385722:D1021N;ENSP00000374121:D1183N	ENSP00000374121:D1183N	D	-	1	0	INTS1	1491547	1.000000	0.71417	0.002000	0.10522	0.036000	0.12997	5.392000	0.66272	1.181000	0.42912	0.561000	0.74099	GAT		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			58	313	0	0	0	1	0	58	313					T	1525021	C	T	1525021	3	4	79	1	0	0	0	0	1	0	0	0	7805	913	32	2	3615	2	INTS1	7	1525021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5880	1525021	157613642	8110	18427											
INTS1	26173	broad.mit.edu	37	chr7	1525106	1525106	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcaccagcgacaaaccCtgtggcagacactcatgagc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000404767.3	-	23	3062		c.e23-1		INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3460-3462)caG>caT		integrator complex subunit 1							23	30	28					7																	1525106		2052	4182	6234	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1525106C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-1G>T	7.37:g.1525106C>A						INTS1_ENST00000404767.3_Splice_Site	p.Q1154H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	24	3461	-		Ovarian(82;0.0253)	992					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3462G>T	CCDS47526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.13|13.13	2.143877|2.143877	0.37825|0.37825	.|.	.|.	ENSG00000164880|ENSG00000164880	ENST00000404767|ENST00000389470	.|T	.|0.46451	.|0.87	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57446	.|0.2054	.|.	.|.	.|.	0.37569|0.37569	D|D	0.919357|0.919357	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|5	.|.	.|.	.|.	.|.	18.3337|18.3337	0.90280|0.90280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|1154	.|ENSP00000374121:Q1154H	.|.	.|Q	-|-	.|3	.|2	INTS1|INTS1	1491632|1491632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.059000|0.059000	0.15707|0.15707	7.268000|7.268000	0.78473|0.78473	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	.|CAG		0.672	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		Intron	27	141	1	0	3.6726e-16	1	4.02855e-16	27	141					A	1525106	C	A	1525106	5	1	79	1	0	0	0	0	0	0	1	0	7805	695	24	3	3700	3	INTS1	7	1525106	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	1525106	157613557	8111	18428											
INTS1	26173	broad.mit.edu	37	chr7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcagcaactccgtctggCtgtcctcctcctccgtgagg	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000404767.3	-	7	969	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_ENST00000389470.4_Missense_Mutation_p.S423I|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	295					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1267-1269)aGc>aTc		integrator complex subunit 1							67	77	74					7																	1538957		2071	4207	6278	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538957C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.884G>T	7.37:g.1538957C>A	ENSP00000385722:p.Ser295Ile					INTS1_ENST00000404767.3_Missense_Mutation_p.S295I	p.S423I			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1267	-		Ovarian(82;0.0253)	295					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1268G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769171	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.81	4.85	4.85	0.62838	.	0.203137	0.50627	D	0.000108	T	0.50222	0.1603	L	0.46157	1.445	0.39377	D	0.966195	P;P	0.45011	0.848;0.82	P;B	0.45829	0.494;0.312	T	0.58025	-0.7709	10	0.62326	D	0.03	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	423;295	A4D212;Q8N201	.;INT1_HUMAN	I	295;423	ENSP00000385722:S295I;ENSP00000374121:S423I	ENSP00000374121:S423I	S	-	2	0	INTS1	1505483	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.937000	0.48979	2.229000	0.72834	0.563000	0.77884	AGC		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			121	635	1	0	5.30871e-29	1	6.19452e-29	121	635					A	1538957	C	A	1538957	3	1	79	1	0	0	0	0	1	0	0	0	7805	797	28	3	5856	3	INTS1	7	1538957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13851	1538957	157599706	8112	18429											
INTS1	26173	broad.mit.edu	37	chr7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgccgcatcccgcttgCgctcagaaggcaggccggaa	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000404767.3	-	3	255	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_ENST00000389470.4_Missense_Mutation_p.R185H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	57					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(553-555)cGc>cAc		integrator complex subunit 1							57	68	64					7																	1542716		2013	4166	6179	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542716C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.170G>A	7.37:g.1542716C>T	ENSP00000385722:p.Arg57His					INTS1_ENST00000404767.3_Missense_Mutation_p.R57H	p.R185H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	553	-		Ovarian(82;0.0253)	57					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.554G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379939	0.95945	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.66;0.68	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.949;0.98	T	0.69989	-0.4995	10	0.87932	D	0	.	16.3381	0.83073	0.0:1.0:0.0:0.0	.	185;57	A4D212;Q8N201	.;INT1_HUMAN	H	57;185	ENSP00000385722:R57H;ENSP00000374121:R185H	ENSP00000374121:R185H	R	-	2	0	INTS1	1509242	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.190000	0.77755	2.374000	0.81015	0.563000	0.77884	CGC		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			100	444	0	0	0	1	0	100	444					T	1542716	C	T	1542716	3	4	79	1	0	0	0	0	1	0	0	0	7805	768	27	1	6586	1	INTS1	7	1542716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3759	1542716	157595947	8113	18430											
TMEM184A	202915	broad.mit.edu	37	chr7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccaggagtcgaaggCgtagatgggcacgatgagga	18	7	0	3	rs374204193		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	101					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(301-303)Gcc>Acc		transmembrane protein 184A			THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92	102	98		301	3.1	1	7		98	0,8600		0,0,4300	no	missense	TMEM184A	NM_001097620.1	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	101/414	1590537	2,13004	2203	4300	6503	SO:0001583	missense	202915					integral to membrane		g.chr7:1590537C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.301G>A	7.37:g.1590537C>T	ENSP00000297477:p.Ala101Thr						p.A101T	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	3	617	-		Ovarian(82;0.0253)	101					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.301G>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807201	0.70797	4.54E-4	0.0	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.05	3.08	0.35506	.	0.129788	0.51477	U	0.000089	T	0.66499	0.2795	M	0.87328	2.875	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	T	0.74328	-0.3701	10	0.66056	D	0.02	-7.3466	12.4568	0.55708	0.4328:0.5672:0.0:0.0	.	101	Q6ZMB5	T184A_HUMAN	T	101	ENSP00000297477:A101T;ENSP00000325945:A101T;ENSP00000398382:A101T;ENSP00000389092:A101T;ENSP00000403499:A101T	ENSP00000297477:A101T	A	-	1	0	TMEM184A	1557063	0.998000	0.40836	0.957000	0.39632	0.801000	0.45260	3.733000	0.55029	1.091000	0.41335	0.407000	0.27541	GCC		0.622	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		61	201	0	0	0	1	0	61	201					T	1590537	C	T	1590537	3	4	79	1	0	0	0	0	1	0	0	0	16156	768	27	1	968	1	TMEM184A	7	1590537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47821	1590537	157548126	8114	18431											
TMEM184A	202915	broad.mit.edu	37	chr7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacgatgaggagcaggCggatgatgtaacgttgctcc	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(274-276)cGc>cAc		transmembrane protein 184A							95	104	101					7																	1590563		2203	4300	6503	SO:0001583	missense	202915					integral to membrane		g.chr7:1590563C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.275G>A	7.37:g.1590563C>T	ENSP00000297477:p.Arg92His						p.R92H	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	3	591	-		Ovarian(82;0.0253)	92					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.275G>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575764	0.65878	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.15	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.81346	0.4803	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87494	0.2429	10	0.87932	D	0	-5.0589	13.7268	0.62763	0.0:0.9248:0.0:0.0752	.	92	Q6ZMB5	T184A_HUMAN	H	92	ENSP00000297477:R92H;ENSP00000325945:R92H;ENSP00000398382:R92H;ENSP00000389092:R92H;ENSP00000403499:R92H	ENSP00000297477:R92H	R	-	2	0	TMEM184A	1557089	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.651000	0.83577	1.166000	0.42689	0.407000	0.27541	CGC		0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		33	196	0	0	0	1	0	33	196					T	1590563	C	T	1590563	3	4	79	1	0	0	0	0	1	0	0	0	16156	768	27	1	994	1	TMEM184A	7	1590563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	1590563	157548100	8115	18432											
MAD1L1	8379	broad.mit.edu	37	chr7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctggcctcccagctcCtccagggcctgcgacagctg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000406869.1	-	14	1940	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	461	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1381-1383)gaG>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							128	148	142					7																	2041733		2071	4215	6286	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2041733C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1383G>T	7.37:g.2041733C>A	ENSP00000385334:p.Glu461Asp					MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D	p.E461D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	14	1940	-		Ovarian(82;0.0272)	461			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1383G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953479	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.51	2.23	0.28157	.	0.112010	0.64402	D	0.000014	T	0.36386	0.0965	L	0.55834	1.745	0.34495	D	0.705382	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.66716	0.946;0.946;0.926	T	0.44143	-0.9347	10	0.37606	T	0.19	-36.0481	5.5262	0.16959	0.0:0.5627:0.0:0.4373	.	460;369;461	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	D	369;461;461;461;128;51	ENSP00000384155:E369D;ENSP00000382562:E461D;ENSP00000385334:E461D;ENSP00000265854:E461D;ENSP00000414877:E128D;ENSP00000393037:E51D	ENSP00000265854:E461D	E	-	3	2	MAD1L1	2008259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.347000	0.20014	0.664000	0.31047	0.650000	0.86243	GAG		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		211	874	1	0	4.61621e-74	1	5.87989e-74	211	874					A	2041733	C	A	2041733	3	1	79	1	0	0	0	0	1	0	0	0	9186	680	24	3	797	3	MAD1L1	7	2041733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	451170	2041733	157096930	8116	18433											
LFNG	3955	broad.mit.edu	37	chr7	2559814	2559814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccacccgcgccccctgGccgagccgctcgcgccccga	12	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	ENST00000222725.5	+	1	339	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	107					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gcgccccctggccgagccgct	0.731																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(319-321)Gcc>Acc		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							6	7	7					7																	2559814		1719	3782	5501	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559814G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.319G>A	7.37:g.2559814G>A	ENSP00000222725:p.Ala107Thr					LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402506.1_Intron	p.A107T	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	339	+		Ovarian(82;0.0112)	107					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.319G>A	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.867809	0.32977	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.59364	0.59;0.27	3.89	0.404	0.16355	.	0.441173	0.23821	N	0.044222	T	0.42291	0.1196	L	0.47716	1.5	0.80722	D	1	P;B	0.40476	0.718;0.031	B;B	0.39258	0.295;0.006	T	0.23904	-1.0175	10	0.12766	T	0.61	-0.2127	7.8891	0.29667	0.1058:0.3088:0.5854:0.0	.	107;107	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	T	107	ENSP00000222725:A107T;ENSP00000352579:A107T	ENSP00000222725:A107T	A	+	1	0	LFNG	2526340	1.000000	0.71417	0.481000	0.27354	0.663000	0.39108	2.938000	0.48987	0.624000	0.30286	-0.247000	0.11927	GCC		0.731	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		27	108	0	0	0	1	0	27	108					A	2559814	G	A	2559814	3	1	79	1	0	0	0	0	1	0	0	0	8768	1203	42	2	597	2	LFNG	7	2559814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518081	2559814	156578849	8117	18434											
TTYH3	80727	broad.mit.edu	37	chr7	2697971	2697971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagggccgcggcaggcGcacgacagcctctaccgcgt	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000407643.1_Silent_p.A402A|TTYH3_ENST00000403167.1_Silent_p.A263A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	434					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1300-1302)gcG>gcA		tweety family member 3							18	16	17					7																	2697971		2187	4281	6468	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2697971G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1302G>A	7.37:g.2697971G>A						TTYH3_ENST00000403167.1_Silent_p.A263A|TTYH3_ENST00000407643.1_Silent_p.A402A	p.A434A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	12	1507	+		Ovarian(82;0.0112)	434					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1302G>A	CCDS34588.1																																																																																				0.701	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		19	92	0	0	0	1	0	19	92					A	2697971	G	A	2697971	2	1	79	1	0	0	0	0	0	0	0	1	16795	1074	38	1		1	TTYH3	7	2697971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138157	2697971	156440692	8118	18435											
AMZ1	155185	broad.mit.edu	37	chr7	2740161	2740161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctctggtctccactgacGcagccctgcagcagctgtat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2740161G>A	ENST00000312371.4	+	2	444	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AMZ1_ENST00000407112.1_Missense_Mutation_p.A26T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	26							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A26T(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTCCACTGACGCAGCCCTGCA	0.667																																						ENST00000312371.4																			1	Substitution - Missense(1)	p.A26T(1)	large_intestine(1)	breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(76-78)Gca>Aca		archaelysin family metallopeptidase 1							102	108	106					7																	2740161		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740161G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.76G>A	7.37:g.2740161G>A	ENSP00000308149:p.Ala26Thr					AMZ1_ENST00000407112.1_Missense_Mutation_p.A26T	p.A26T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	444	+		Ovarian(82;0.0779)	26					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.76G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963565	0.18583	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.31510	1.96;1.49	4.24	-1.64	0.08318	.	0.887885	0.09591	N	0.781532	T	0.13798	0.0334	N	0.08118	0	0.09310	N	1	B;B	0.34181	0.44;0.013	B;B	0.19148	0.024;0.002	T	0.08310	-1.0728	10	0.45353	T	0.12	-4.1793	13.1227	0.59336	0.0997:0.7429:0.1574:0.0	.	26;26	B3KRS0;Q400G9	.;AMZ1_HUMAN	T	26	ENSP00000308149:A26T;ENSP00000386020:A26T	ENSP00000308149:A26T	A	+	1	0	AMZ1	2706687	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.545000	0.06069	-0.376000	0.07943	-0.311000	0.09066	GCA		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		14	1035	0	0	0	1	0	14	1035					A	2740161	G	A	2740161	3	1	79	1	0	0	0	0	1	0	0	0	596	1087	38	1	78	1	AMZ1	7	2740161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42190	2740161	156398502	8119	18436											
AMZ1	155185	broad.mit.edu	37	chr7	2752047	2752047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgggaggacaccccGcctgccagcgccgactcggg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000312371.4	+	7	1400	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	AMZ1_ENST00000407112.1_Missense_Mutation_p.A288T|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	344							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672																																						ENST00000407112.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(862-864)Gcc>Acc		archaelysin family metallopeptidase 1							21	26	24					7																	2752047		2202	4298	6500	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752047G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1032G>A	7.37:g.2752047G>A						AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000312371.4_Silent_p.P344P	p.A288T			Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1175	+		Ovarian(82;0.0779)	0					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.862G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.053063	0.08291	.	.	ENSG00000174945	ENST00000407112	T	0.37058	1.22	4.66	-2.71	0.05986	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29518	-1.0009	8	0.72032	D	0.01	-5.1853	1.1093	0.01700	0.3229:0.1307:0.3488:0.1977	.	288	B3KRS0	.	T	288	ENSP00000386020:A288T	ENSP00000386020:A288T	A	+	1	0	AMZ1	2718573	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.282000	0.08445	-0.480000	0.06803	-0.355000	0.07637	GCC		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		17	122	0	0	0	1	0	17	122					A	2752047	G	A	2752047	2	1	79	1	0	0	0	0	0	0	0	1	596	1074	38	1		1	AMZ1	7	2752047	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	2752047	156386616	8120	18437											
CARD11	84433	broad.mit.edu	37	chr7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcctctgcaccagcGtcttggccagcacggtgggt	14	13	2	1	rs376039195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2959-2961)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	65	66	65		2960	4.4	1	7		65	0,8598		0,0,4299	no	missense	CARD11	NM_032415.4	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	987/1155	2952980	1,13003	2203	4299	6502	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2952980G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2960C>T	7.37:g.2952980G>A	ENSP00000380150:p.Thr987Met						p.T987M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3363	-		Ovarian(82;0.0115)	987			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2960C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638367	0.29157	2.27E-4	0.0	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.36	4.36	0.52297	.	0.307048	0.30556	N	0.009370	T	0.17280	0.0415	N	0.08118	0	0.44092	D	0.996857	P	0.35050	0.482	B	0.37047	0.24	T	0.09164	-1.0687	10	0.44086	T	0.13	-21.0385	10.5667	0.45177	0.0894:0.0:0.9106:0.0	.	987	Q9BXL7	CAR11_HUMAN	M	987	ENSP00000380150:T987M	ENSP00000380150:T987M	T	-	2	0	CARD11	2919506	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.970000	0.70431	1.985000	0.57927	0.484000	0.47621	ACG		0.672	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		116	464	0	0	0	1	0	116	464					A	2952980	G	A	2952980	3	1	79	1	0	0	0	0	1	0	0	0	2652	1145	40	1	520	1	CARD11	7	2952980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200933	2952980	156185683	8121	18438											
CARD11	84433	broad.mit.edu	37	chr7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgactcctccgaggtggaaGaatcgtcagcttcttgacca	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1429-1431)tCt>tTt		caspase recruitment domain family, member 11							113	97	102					7																	2974175		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2974175G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1430C>T	7.37:g.2974175G>A	ENSP00000380150:p.Ser477Phe						p.S477F	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	10	1833	-		Ovarian(82;0.0115)	477					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1430C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086310	0.20390	.	.	ENSG00000198286	ENST00000396946	T	0.53423	0.62	5.22	5.22	0.72569	.	0.447184	0.25369	N	0.031174	T	0.26629	0.0651	N	0.08118	0	0.27585	N	0.949457	B	0.18166	0.026	B	0.14023	0.01	T	0.10405	-1.0631	10	0.25106	T	0.35	-15.0704	11.2701	0.49133	0.0835:0.0:0.9165:0.0	.	477	Q9BXL7	CAR11_HUMAN	F	477	ENSP00000380150:S477F	ENSP00000380150:S477F	S	-	2	0	CARD11	2940701	0.809000	0.29036	0.108000	0.21378	0.170000	0.22686	2.543000	0.45752	2.458000	0.83093	0.561000	0.74099	TCT		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		36	189	0	0	0	1	0	36	189					A	2974175	G	A	2974175	3	1	79	1	0	0	0	0	1	0	0	0	2652	942	33	2	2098	2	CARD11	7	2974175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21195	2974175	156164488	8122	18439											
SDK1	221935	broad.mit.edu	37	chr7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgccagcggaggcctgcGcatccagaagctgcgtccag	14	15	0	1	rs375595635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R444H(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGGCCTGCGCATCCAGAAG	0.592																																						ENST00000404826.2																			1	Substitution - Missense(1)	p.R444H(1)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1330-1332)cGc>cAc		sidekick cell adhesion molecule 1		G	HIS/ARG	0,4406		0,0,2203	50	44	46		1331	2.5	1	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/2214	4002385	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4002385G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1331G>A	7.37:g.4002385G>A	ENSP00000385899:p.Arg444His					SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	9	1470	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	444			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1331G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	SDK1	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		28	113	0	0	0	1	0	28	113					A	4002385	G	A	4002385	3	1	79	1	0	0	0	0	1	0	0	0	14018	1087	38	1	1365	1	SDK1	7	4002385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028210	4002385	155136278	8123	18440											
SDK1	221935	broad.mit.edu	37	chr7	4011159	4011159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaaggggaccacggccacGctgcactgtggtgccacaca	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000404826.2	+	12	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000389531.3_Silent_p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	592	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGGCCACGCTGCACTGTG	0.517																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1774-1776)acG>acA		sidekick cell adhesion molecule 1							88	73	78					7																	4011159		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4011159G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1776G>A	7.37:g.4011159G>A						SDK1_ENST00000389531.3_Silent_p.T592T	p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	12	1915	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	592			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1776G>A	CCDS34590.1																																																																																				0.517	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	112	0	0	0	1	0	11	112					A	4011159	G	A	4011159	2	1	79	1	0	0	0	0	0	0	0	1	14018	1074	38	1		1	SDK1	7	4011159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8774	4011159	155127504	8124	18441											
SDK1	221935	broad.mit.edu	37	chr7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccagcacacctcagCtggtctggactcaggaagac	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000404826.2	+	19	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	964	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACACCTCAGCTGGTCTGGAC	0.522																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2890-2892)Ctg>Atg		sidekick cell adhesion molecule 1							126	118	121					7																	4091441		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091441C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2890C>A	7.37:g.4091441C>A	ENSP00000385899:p.Leu964Met					SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	3029	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	964			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2890C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242853	0.22796	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.74658	0.3745	M	0.83384	2.64	0.42244	D	0.991944	P;D	0.63880	0.555;0.993	P;D	0.66084	0.587;0.941	T	0.74365	-0.3689	10	0.38643	T	0.18	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	964;964	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	964	ENSP00000385899:L964M;ENSP00000374182:L964M	ENSP00000374182:L964M	L	+	1	2	SDK1	4057967	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	3.111000	0.50360	2.648000	0.89879	0.650000	0.86243	CTG		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		93	524	1	0	2.76863e-45	1	3.39467e-45	93	524					A	4091441	C	A	4091441	3	1	79	1	0	0	0	0	1	0	0	0	14018	796	28	3	2964	3	SDK1	7	4091441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80282	4091441	155047222	8125	18442											
SDK1	221935	broad.mit.edu	37	chr7	4213928	4213928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagctggagtatgaagcCgggtcaggcactgaggccaa	17	8	1	2	rs201560962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000404826.2	+	33	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000389531.3_Silent_p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTATGAAGCCGGGTCAGGCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20451	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4873-4875)gcC>gcT		sidekick cell adhesion molecule 1		C		0,4406		0,0,2203	202	196	198		4875	-9.8	0	7		198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1625/2214	4213928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4213928C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4875C>T	7.37:g.4213928C>T						SDK1_ENST00000389531.3_Silent_p.A1625A	p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	33	5014	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1625			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4875C>T	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		212	957	0	0	0	1	0	212	957					T	4213928	C	T	4213928	2	4	79	1	0	0	0	0	0	0	0	1	14018	639	23	1		1	SDK1	7	4213928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122487	4213928	154924735	8126	18443											
SDK1	221935	broad.mit.edu	37	chr7	4285374	4285374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctgcaacaagtacaaCggcgccgtgctgaccgagag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000404826.2	+	44	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2106					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAGTACAACGGCGCCGTGC	0.602																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6316-6318)aaC>aaT		sidekick cell adhesion molecule 1							87	76	80					7																	4285374		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4285374C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6318C>T	7.37:g.4285374C>T						SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	p.N2106N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	44	6457	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2106					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.6318C>T	CCDS34590.1																																																																																				0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		64	296	0	0	0	1	0	64	296					T	4285374	C	T	4285374	2	4	79	1	0	0	0	0	0	0	0	1	14018	535	19	1		1	SDK1	7	4285374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71446	4285374	154853289	8127	18444											
KIAA0415	9907	broad.mit.edu	37	chr7	4820858	4820858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcccggatctgtaaactgCtgcaggcggaggacttgggg	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4820858C>A	ENST00000348624.4	+	2	188	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L32M	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	32					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGTAAACTGCTGCAGGCGGA	0.582																																						ENST00000348624.4																			0											c.(94-96)Ctg>Atg		adaptor-related protein complex 5, zeta 1 subunit							56	62	60					7																	4820858		1988	4180	6168	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820858C>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.94C>A	7.37:g.4820858C>A	ENSP00000297562:p.Leu32Met					AP5Z1_ENST00000401897.1_Missense_Mutation_p.L32M	p.L32M	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			2	188	+			32					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.94C>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145985	0.57044	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.75367	-0.93;-0.32	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000003	D	0.86280	0.5895	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87905	0.2693	10	0.87932	D	0	.	16.1738	0.81836	0.0:1.0:0.0:0.0	.	32	O43299	K0415_HUMAN	M	32	ENSP00000297562:L32M;ENSP00000384980:L32M	ENSP00000297562:L32M	L	+	1	2	KIAA0415	4787384	1.000000	0.71417	0.998000	0.56505	0.025000	0.11179	6.680000	0.74518	2.494000	0.84150	0.655000	0.94253	CTG		0.582	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			48	280	1	0	4.64027e-19	1	5.16652e-19	48	280					A	4820858	C	A	4820858	3	1	79	1	0	0	0	0	1	0	0	0	8205	796	28	3	100	3	KIAA0415	7	4820858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535484	4820858	154317805	8128	18445											
RADIL	55698	broad.mit.edu	37	chr7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtccccaggctcagggCcaagtggagtgctgggaggc	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	911	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCTCAGGGCCAAGTGGAGT	0.716																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2731-2733)gGc>gAc		Ras association and DIL domains							8	11	10					7																	4841394		1875	4062	5937	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841394C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2732G>A	7.37:g.4841394C>T	ENSP00000382492:p.Gly911Asp					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	p.G911D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2919	-		Ovarian(82;0.0175)	911			Pro-rich.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2732G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473350	0.26423	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.06933	3.31;3.24	4.8	2.6	0.31112	.	0.381481	0.27518	N	0.019006	T	0.10508	0.0257	L	0.60455	1.87	0.19575	N	0.999961	P;D	0.54772	0.544;0.968	B;P	0.51135	0.175;0.66	T	0.07908	-1.0748	10	0.07644	T	0.81	-19.2591	5.8629	0.18759	0.3355:0.562:0.0:0.1025	.	911;219	Q96JH8;Q75LH2	RADIL_HUMAN;.	D	911;882;671	ENSP00000382492:G911D;ENSP00000442966:G671D	ENSP00000320946:G882D	G	-	2	0	RADIL	4807920	0.529000	0.26322	0.015000	0.15790	0.022000	0.10575	0.844000	0.27654	0.998000	0.38996	-0.217000	0.12591	GGC		0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		19	90	0	0	0	1	0	19	90					T	4841394	C	T	4841394	3	4	79	1	0	0	0	0	1	0	0	0	13047	739	26	2	511	2	RADIL	7	4841394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20536	4841394	154297269	8129	18446											
RADIL	55698	broad.mit.edu	37	chr7	4874574	4874574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgggcaggggctgggcCtgcgcggggtccttgaatag	21	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	ENST00000399583.3	-	4	1267	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCTGGGCCTGCGCGGGGT	0.746																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1078-1080)caG>caA		Ras association and DIL domains							9	12	11					7																	4874574		1856	4070	5926	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874574C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1080G>A	7.37:g.4874574C>T						RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	p.Q360Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1267	-		Ovarian(82;0.0175)	360			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1080G>A	CCDS43544.1																																																																																				0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		15	90	0	0	0	1	0	15	90					T	4874574	C	T	4874574	2	4	79	1	0	0	0	0	0	0	0	1	13047	680	24	2		2	RADIL	7	4874574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33180	4874574	154264089	8130	18447											
RADIL	55698	broad.mit.edu	37	chr7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgctggagggggtcCgctggcccaccgtgtgccgg	19	12	0	0	rs528259551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	278					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGAGGGGGTCCGCTGGCCCAC	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11326	0.0		0.0	False		,,,				2504	0.0					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(832-834)cGg>cAg		Ras association and DIL domains							18	26	24					7																	4874821		2174	4248	6422	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874821C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.833G>A	7.37:g.4874821C>T	ENSP00000382492:p.Arg278Gln					RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	p.R278Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1020	-		Ovarian(82;0.0175)	278					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.833G>A	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.94|11.94	1.789670|1.789670	0.31685|0.31685	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000536091;ENST00000538469	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.75|4.75	3.87|3.87	0.44632|0.44632	.|Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.|0.678925	.|0.14484	.|N	.|0.316794	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.60455|0.60455	1.87|1.87	0.31687|0.31687	N|N	0.642347|0.642347	.|D	.|0.63046	.|0.992	.|P	.|0.50570	.|0.644	T|T	0.07731|0.07731	-1.0757|-1.0757	6|10	0.59425|0.27082	D|T	0.04|0.32	-7.1694|-7.1694	10.5807|10.5807	0.45255|0.45255	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|278	.|Q96JH8	.|RADIL_HUMAN	R|Q	13|278;278;38	.|ENSP00000382492:R278Q;ENSP00000442533:R278Q;ENSP00000442966:R38Q	ENSP00000437686:G13R|ENSP00000382492:R278Q	G|R	-|-	1|2	0|0	RADIL|RADIL	4841347|4841347	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.172000|0.172000	0.22775|0.22775	3.422000|3.422000	0.52749|0.52749	1.017000|1.017000	0.39495|0.39495	-0.119000|-0.119000	0.15052|0.15052	GGA|CGG		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		22	111	0	0	0	1	0	22	111					T	4874821	C	T	4874821	3	4	79	1	0	0	0	0	1	0	0	0	13047	652	23	1	2442	1	RADIL	7	4874821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	4874821	154263842	8131	18448											
PAPOLB	56903	broad.mit.edu	37	chr7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactccaactataggattaGatatgtttgttgctgagttt	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	634					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATAGGATTAGATATGTTTGT	0.413																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1900-1902)Cta>Ata		poly(A) polymerase beta (testis specific)							50	50	50					7																	4899539		2017	4215	6232	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899539G>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1900C>A	7.37:g.4899539G>T	ENSP00000384700:p.Leu634Ile					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.L634I	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	2086	-		Ovarian(82;0.0175)	634					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1900C>A		.	.	.	.	.	.	.	.	.	.	G	9.764	1.170825	0.21621	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.27	3.39	0.38822	.	.	.	.	.	T	0.24547	0.0595	N	0.04508	-0.205	0.18873	N	0.999988	B	0.23891	0.093	B	0.29785	0.107	T	0.26292	-1.0107	8	0.54805	T	0.06	.	10.481	0.44693	0.0964:0.0:0.9036:0.0	.	635	A4D1Z6	.	I	634	.	ENSP00000384700:L634I	L	-	1	2	PAPOLB	4866065	1.000000	0.71417	0.455000	0.27031	0.770000	0.43624	5.330000	0.65899	1.398000	0.46701	0.591000	0.81541	CTA		0.413	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		29	119	1	0	1.77063e-15	1	1.9355e-15	29	119					T	4899539	G	T	4899539	3	4	79	1	0	0	0	0	1	0	0	0	11472	933	33	3	14	3	PAPOLB	7	4899539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24718	4899539	154239124	8132	18449											
PAPOLB	56903	broad.mit.edu	37	chr7	4900560	4900560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catacaggcaaattaagattCcgttcttcaggctccttcag	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATTAAGATTCCGTTCTTCAG	0.443																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(877-879)cgG>cgA		poly(A) polymerase beta (testis specific)							141	137	138					7																	4900560		2201	4299	6500	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900560C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.879G>A	7.37:g.4900560C>T						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.R293R	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1065	-		Ovarian(82;0.0175)	293					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.879G>A																																																																																					0.443	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		104	476	0	0	0	1	0	104	476					T	4900560	C	T	4900560	2	4	79	1	0	0	0	0	0	0	0	1	11472	842	30	2		2	PAPOLB	7	4900560	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1021	4900560	154238103	8133	18450											
WIPI2	26100	broad.mit.edu	37	chr7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacggcagtctggaaacgAccaatgagatcttggactct	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A|WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	382					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(1144-1146)Acc>Gcc		WD repeat domain, phosphoinositide interacting 2							101	66	78					7																	5269261		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5269261A>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1144A>G	7.37:g.5269261A>G	ENSP00000288828:p.Thr382Ala					WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	p.T382A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	12	1376	+		Ovarian(82;0.0175)	382					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.1144A>G	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	1.403	-0.577680	0.03854	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.41400	1.31;1.31;1.33;1.33;1.0	5.77	1.33	0.21861	.	0.520851	0.21249	N	0.077680	T	0.15998	0.0385	N	0.04508	-0.205	0.21290	N	0.99974	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.28586	-1.0039	10	0.09843	T	0.71	-20.5692	7.0495	0.25065	0.5558:0.0:0.4442:0.0	.	376;364;364;382;382	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	A	382;364;382;364;323;376	ENSP00000288828:T382A;ENSP00000384945:T364A;ENSP00000385297:T382A;ENSP00000371821:T364A;ENSP00000429654:T323A	ENSP00000288828:T382A	T	+	1	0	WIPI2	5235787	0.921000	0.31238	0.110000	0.21437	0.095000	0.18619	1.468000	0.35332	-0.074000	0.12820	-0.232000	0.12228	ACC		0.592	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		21	97	0	0	0	1	0	21	97					G	5269261	A	G	5269261	3	3	79	1	0	0	0	0	1	0	0	0	17425	275	10	4	1224	4	WIPI2	7	5269261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	368701	5269261	153869402	8134	18451											
SLC29A4	222962	broad.mit.edu	37	chr7	5330411	5330411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcacgccatctactttgCgatgctgctggctggcgtgg	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.3	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	73					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ATCTACTTTGCGATGCTGCTG	0.592																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(217-219)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 4							109	81	90					7																	5330411		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330411C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.218C>T	7.37:g.5330411C>T	ENSP00000380081:p.Ala73Val					SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V	p.A73V	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	379	+		Ovarian(82;0.0175)	73					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.218C>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837993	0.91117	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.48175	-0.9058	10	0.39692	T	0.17	-21.0558	14.5557	0.68100	0.0:1.0:0.0:0.0	.	73;73	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	73	ENSP00000406803:A73V;ENSP00000380081:A73V;ENSP00000413271:A73V;ENSP00000297195:A73V;ENSP00000385845:A73V	ENSP00000297195:A73V	A	+	2	0	SLC29A4	5296937	1.000000	0.71417	0.945000	0.38365	0.936000	0.57629	7.015000	0.76387	1.834000	0.53371	0.556000	0.70494	GCG		0.592	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		7	317	0	0	0	1	0	7	317					T	5330411	C	T	5330411	3	4	79	1	0	0	0	0	1	0	0	0	14587	768	27	1	224	1	SLC29A4	7	5330411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61150	5330411	153808252	8135	18452											
SLC29A4	222962	broad.mit.edu	37	chr7	5339001	5339001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgccactgcatcctgggCgagtggctgcccatcctcat	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	384					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCATCCTGGGCGAGTGGCTGC	0.642																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1150-1152)ggC>ggT		solute carrier family 29 (equilibrative nucleoside transporter), member 4							60	42	48					7																	5339001		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5339001C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1152C>T	7.37:g.5339001C>T						SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR	p.G384G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	9	1313	+		Ovarian(82;0.0175)	384					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1152C>T	CCDS5340.1																																																																																				0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		21	212	0	0	0	1	0	21	212					T	5339001	C	T	5339001	2	4	79	1	0	0	0	0	0	0	0	1	14587	755	27	1		1	SLC29A4	7	5339001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8590	5339001	153799662	8136	18453											
SLC29A4	222962	broad.mit.edu	37	chr7	5340232	5340232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatcagcaacggctacttCggcagcgtgcccatgatcct	11	14	1	1	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ACGGCTACTTCGGCAGCGTGC	0.682																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1387-1389)ttC>ttT		solute carrier family 29 (equilibrative nucleoside transporter), member 4		C	,	6,4400		0,6,2197	80	75	77		1389,1389	-3.6	1	7	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	463/531,463/531	5340232	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5340232C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1389C>T	7.37:g.5340232C>T						SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR	p.F463F	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	10	1550	+		Ovarian(82;0.0175)	463					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1389C>T	CCDS5340.1																																																																																				0.682	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		148	593	0	0	0	1	0	148	593					T	5340232	C	T	5340232	2	4	79	1	0	0	0	0	0	0	0	1	14587	883	31	1		1	SLC29A4	7	5340232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	5340232	153798431	8137	18454											
TNRC18	84629	broad.mit.edu	37	chr7	5352415	5352415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgccggcctgcttggtggCcttggtggggagcgccgcct	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	ENST00000430969.1	-	27	8455	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2703S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2703							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTTGGTGGCCTTGGTGGGG	0.741																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8107-8109)Gcc>Tcc		trinucleotide repeat containing 18							5	7	6					7																	5352415		1478	3416	4894	SO:0001583	missense	84629						DNA binding	g.chr7:5352415C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8107G>T	7.37:g.5352415C>A	ENSP00000395538:p.Ala2703Ser					TNRC18_ENST00000430969.1_Missense_Mutation_p.A2703S	p.A2703S			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8455	-		Ovarian(82;0.142)	2703					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8107G>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.540|4.540	0.100286|0.100286	0.08731|0.08731	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.05996|.	3.36;3.36|.	4.54|4.54	2.4|2.4	0.29515|0.29515	.|.	.|0.426630	.|0.17361	.|N	.|0.177035	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.11421|0.11421	-1.0588|-1.0588	9|6	0.07644|.	T|.	0.81|.	.|.	7.7328|7.7328	0.28796|0.28796	0.1402:0.56:0.2999:0.0|0.1402:0.56:0.2999:0.0	.|.	2703|.	O15417|.	TNC18_HUMAN|.	S|S	2703|1215	ENSP00000382452:A2703S;ENSP00000395538:A2703S|.	ENSP00000382452:A2703S|.	A|R	-|-	1|3	0|2	TNRC18|TNRC18	5318941|5318941	0.019000|0.019000	0.18553|0.18553	0.491000|0.491000	0.27477|0.27477	0.111000|0.111000	0.19643|0.19643	0.547000|0.547000	0.23299|0.23299	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	GCC|AGG		0.741	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				12	100	1	0	2.23348e-06	1	2.30073e-06	12	100					A	5352415	C	A	5352415	3	1	79	1	0	0	0	0	1	0	0	0	16391	739	26	3	815	3	TNRC18	7	5352415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12183	5352415	153786248	8138	18455											
TNRC18	84629	broad.mit.edu	37	chr7	5401540	5401540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcactcggagtcccggCggcgctgcagcttcaccagc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	ENST00000430969.1	-	13	4868	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1507H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1507							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTCCCGGCGGCGCTGCAG	0.726																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4519-4521)cGc>cAc		trinucleotide repeat containing 18							7	9	8					7																	5401540		1958	4122	6080	SO:0001583	missense	84629						DNA binding	g.chr7:5401540C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4520G>A	7.37:g.5401540C>T	ENSP00000395538:p.Arg1507His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R1507H	p.R1507H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	13	4868	-		Ovarian(82;0.142)	1507					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4520G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736967	0.89482	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.28069	2.05;2.04;1.63	5.41	5.41	0.78517	.	0.181348	0.27782	N	0.017880	T	0.59280	0.2182	M	0.77820	2.39	0.50632	D	0.999887	D	0.89917	1.0	D	0.74023	0.982	T	0.63075	-0.6718	10	0.72032	D	0.01	.	19.1717	0.93580	0.0:1.0:0.0:0.0	.	1507	O15417	TNC18_HUMAN	H	1507;1507;562;40	ENSP00000382452:R1507H;ENSP00000395538:R1507H;ENSP00000395990:R40H	ENSP00000382452:R1507H	R	-	2	0	TNRC18	5368066	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	2.896000	0.48656	2.541000	0.85698	0.561000	0.74099	CGC		0.726	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	38	0	0	0	1	0	6	38					T	5401540	C	T	5401540	3	4	79	1	0	0	0	0	1	0	0	0	16391	768	27	1	4458	1	TNRC18	7	5401540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	5401540	153737123	8139	18456											
TNRC18	84629	broad.mit.edu	37	chr7	5430201	5430201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcccactgctggggggCtccaggtggttcaggtggag	19	10	1	0	rs376442503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000430969.1	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000399537.4_Silent_p.E134E	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	134							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTGGGGGGCTCCAGGTGGT	0.607																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(400-402)gaG>gaA		trinucleotide repeat containing 18		C		0,3696		0,0,1848	18	23	21		402	1.4	1	7		21	1,8161		0,1,4080	no	coding-synonymous	TNRC18	NM_001080495.2		0,1,5928	TT,TC,CC		0.0123,0.0,0.0084		134/2969	5430201	1,11857	1848	4081	5929	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5430201C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.402G>A	7.37:g.5430201C>T						TNRC18_ENST00000430969.1_Silent_p.E134E|TNRC18_ENST00000399434.2_Silent_p.E60E	p.E134E			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	4	750	-		Ovarian(82;0.142)	134					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.402G>A	CCDS47534.1																																																																																				0.607	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				20	109	0	0	0	1	0	20	109					T	5430201	C	T	5430201	2	4	79	1	0	0	0	0	0	0	0	1	16391	796	28	2		2	TNRC18	7	5430201	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28661	5430201	153708462	8140	18457											
FBXL18	80028	broad.mit.edu	37	chr7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcagagggaagatgaCgacgtttaacgcgggccgct	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(2032-2034)Gtc>Atc		F-box and leucine-rich repeat protein 18							73	83	80					7																	5521531		2056	4180	6236	SO:0001583	missense	80028							g.chr7:5521531C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2032G>A	7.37:g.5521531C>T	ENSP00000371805:p.Val678Ile						p.V678I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2155	-		Ovarian(82;0.0607)	0					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.2032G>A	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918844|3.918844	0.73098|0.73098	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368	.|T	.|0.52295	.|0.67	4.83|4.83	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.41743|0.41743	0.1172|0.1172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.46110	.|0.504	T|T	0.19811|0.19811	-1.0294|-1.0294	5|8	0.87932|0.32370	D|T	0|0.25	.|.	8.5691|8.5691	0.33558|0.33558	0.0:0.7655:0.1521:0.0824|0.0:0.7655:0.1521:0.0824	.|.	.|678	.|Q96ME1-4	.|.	H|I	237|678	.|ENSP00000371805:V678I	ENSP00000297035:R237H|ENSP00000371805:V678I	R|V	-|-	2|1	0|0	FBXL18|FBXL18	5488057|5488057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.845000|0.845000	0.48019|0.48019	3.693000|3.693000	0.54735|0.54735	1.167000|1.167000	0.42706|0.42706	-0.294000|-0.294000	0.09567|0.09567	CGT|GTC		0.632	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		107	550	0	0	0	1	0	107	550					T	5521531	C	T	5521531	3	4	79	1	0	0	0	0	1	0	0	0	5739	536	19	1	128	1	FBXL18	7	5521531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91330	5521531	153617132	8141	18458											
FBXL18	80028	broad.mit.edu	37	chr7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgggcgcgcggtcggCgcgcggcgcggagtcagcga	22	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1294-1296)Gcc>Acc		F-box and leucine-rich repeat protein 18							7	10	9					7																	5540606		2069	3972	6041	SO:0001583	missense	80028							g.chr7:5540606C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1294G>A	7.37:g.5540606C>T	ENSP00000371805:p.Ala432Thr					FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1417	-		Ovarian(82;0.0607)	432					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1294G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139483	0.01728	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.42900	0.98;0.96	5.36	2.33	0.28932	.	0.664063	0.15998	N	0.234441	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.13470	T	0.59	.	3.1383	0.06447	0.1271:0.5114:0.1824:0.1791	.	432;432	F5H4Z4;Q96ME1-4	.;.	T	432	ENSP00000371805:A432T;ENSP00000444797:A432T	ENSP00000311990:A432T	A	-	1	0	FBXL18	5507132	.	.	0.030000	0.17652	0.010000	0.07245	.	.	0.631000	0.30412	0.585000	0.79938	GCC		0.741	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		13	112	0	0	0	1	0	13	112					T	5540606	C	T	5540606	3	4	79	1	0	0	0	0	1	0	0	0	5739	768	27	1	874	1	FBXL18	7	5540606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19075	5540606	153598057	8142	18459											
ACTB	60	broad.mit.edu	37	chr7	5568999	5568999	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctcgtcgcccacataGgaatccttctgacccatgcc	9	16	1	1	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	52					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(154-156)tcC>tcA		actin, beta							68	72	71					7																	5568999		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568999G>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.156C>A	7.37:g.5568999G>T							p.S52S	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	347	-		Ovarian(82;0.0606)	52					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.156C>A	CCDS5341.1																																																																																				0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		81	536	1	0	1.68737e-39	1	2.04089e-39	81	536					T	5568999	G	T	5568999	2	4	79	1	0	0	0	0	0	0	0	1	193	987	35	3		3	ACTB	7	5568999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28393	5568999	153569664	8143	18460											
RNF216	54476	broad.mit.edu	37	chr7	5754711	5754711	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaagactgcctcttgGgcatatctgatgagacactc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCCTCTTGGGCATATCTGA	0.458																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1633-1635)gcC>gcA		ring finger protein 216							168	154	159					7																	5754711		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5754711G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1635C>A	7.37:g.5754711G>T						RNF216_ENST00000389902.3_Silent_p.A602A	p.A545A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	11	1859	-		Ovarian(82;0.07)	545					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.1635C>A	CCDS34595.1																																																																																				0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		38	787	1	0	9.73076e-26	1	1.11809e-25	38	787					T	5754711	G	T	5754711	2	4	79	1	0	0	0	0	0	0	0	1	13530	1219	43	3		3	RNF216	7	5754711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185712	5754711	153383952	8144	18461											
PMS2	5395	broad.mit.edu	37	chr7	6017283	6017283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccggcacatgaccccaGggctgtcgctcagcatgaag	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017283G>A	ENST00000265849.7	-	14	2486	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	PMS2_ENST00000382321.4_Missense_Mutation_p.P393L|PMS2_ENST00000441476.2_Missense_Mutation_p.P688L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	794					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGACCCCAGGGCTGTCGCT	0.542			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2380-2382)cCt>cTt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							23	21	22					7																	6017283		2142	4137	6279	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017283G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2381C>T	7.37:g.6017283G>A	ENSP00000265849:p.Pro794Leu					PMS2_ENST00000382321.4_Missense_Mutation_p.P393L|PMS2_ENST00000441476.2_Missense_Mutation_p.P688L	p.P794L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	14	2486	-		Ovarian(82;0.0694)	794					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.2381C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302696	0.95601	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.73681	-0.77;-0.77;-0.77	5.75	5.75	0.90469	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.87827	2.91	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.97110	0.999;0.823;1.0	D	0.86008	0.1499	10	0.29301	T	0.29	-13.193	18.9294	0.92558	0.0:0.0:1.0:0.0	.	393;794;688	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	L	794;747;393;688	ENSP00000265849:P794L;ENSP00000371758:P393L;ENSP00000392843:P688L	ENSP00000265849:P794L	P	-	2	0	PMS2	5983809	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	9.859000	0.99545	2.728000	0.93425	0.549000	0.68633	CCT		0.542	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		45	288	0	0	0	1	0	45	288					A	6017283	G	A	6017283	3	1	79	1	0	0	0	0	1	0	0	0	12185	1000	35	2	215	2	PMS2	7	6017283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262572	6017283	153121380	8145	18462											
PMS2	5395	broad.mit.edu	37	chr7	6017315	6017315	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatgaagatcagttcatcGacgtcctggggtccgaaggt	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000265849.7	-	14	2454	c.2349C>T	c.(2347-2349)gtC>gtT	p.V783V	PMS2_ENST00000406569.3_Missense_Mutation_p.S570L|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	783					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406569.3			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1708-1710)tCg>tTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							94	75	81					7																	6017315		2195	4284	6479	SO:0001819	synonymous_variant	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017315G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2349C>T	7.37:g.6017315G>A						PMS2_ENST00000265849.7_Silent_p.V783V|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	p.S570L			P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	12	1708	-		Ovarian(82;0.0694)	0					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1709C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608084	0.28623	.	.	ENSG00000122512	ENST00000406569	D	0.85861	-2.04	5.75	-1.52	0.08637	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.80722	D	1	B	0.26708	0.157	B	0.19391	0.025	T	0.63686	-0.6581	8	0.30078	T	0.28	-7.0862	16.6672	0.85256	0.0:0.0:0.5913:0.4087	.	570	P54278-3	.	L	570	ENSP00000384308:S570L	ENSP00000384308:S570L	S	-	2	0	PMS2	5983841	0.905000	0.30787	0.984000	0.44739	0.615000	0.37417	-0.059000	0.11731	-0.473000	0.06871	-0.442000	0.05670	TCG		0.498	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		70	542	0	0	0	1	0	70	542					A	6017315	G	A	6017315	2	1	79	1	0	0	0	0	0	0	0	1	12185	1045	37	1		1	PMS2	7	6017315	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	6017315	153121348	8146	18463											
PMS2	5395	broad.mit.edu	37	chr7	6026722	6026722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactcgaaatttacatccGgtatcttcctggtttgaatg	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6026722G>A	ENST00000265849.7	-	11	1779	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	558					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACATCCGGTATCTTCCT	0.448			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1672-1674)acC>acT	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							115	123	120					7																	6026722		2203	4300	6503	SO:0001819	synonymous_variant	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026722G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1674C>T	7.37:g.6026722G>A						PMS2_ENST00000406569.3_Silent_p.T558T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000469652.1_Intron	p.T558T	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1779	-		Ovarian(82;0.0694)	558					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.1674C>T	CCDS5343.1																																																																																				0.448	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		37	1112	0	0	0	1	0	37	1112					A	6026722	G	A	6026722	2	1	79	1	0	0	0	0	0	0	0	1	12185	1103	39	1		1	PMS2	7	6026722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9407	6026722	153111941	8147	18464											
PMS2	5395	broad.mit.edu	37	chr7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttctctgttgtgtgaCgaagagaaaaggcctctcgc	12	9	2	2	rs112902065	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	427					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	4	0.000798722	0.003	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1279-1281)cGt>cAt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							52	51	51					7																	6027116		2203	4299	6502	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027116C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1280G>A	7.37:g.6027116C>T	ENSP00000265849:p.Arg427His					PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000469652.1_Intron	p.R427H	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1385	-		Ovarian(82;0.0694)	427					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1280G>A	CCDS5343.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	10.57	1.386024	0.25031	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85955	1.0;1.0;-2.05	5.84	-1.11	0.09840	.	0.746320	0.13341	N	0.395124	T	0.55609	0.1931	N	0.01874	-0.695	0.25367	N	0.988733	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.46345	-0.9198	10	0.27785	T	0.31	-1.5374	12.7236	0.57156	0.0:0.2476:0.0:0.7524	.	427;427;321	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	H	427;380;321;427	ENSP00000265849:R427H;ENSP00000392843:R321H;ENSP00000384308:R427H	ENSP00000265849:R427H	R	-	2	0	PMS2	5993642	0.096000	0.21769	0.045000	0.18777	0.360000	0.29518	0.248000	0.18198	-0.419000	0.07439	-0.827000	0.03088	CGT		0.478	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		40	214	0	0	0	1	0	40	214					T	6027116	C	T	6027116	3	4	79	1	0	0	0	0	1	0	0	0	12185	536	19	1	1328	1	PMS2	7	6027116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	6027116	153111547	8148	18465											
PMS2	5395	broad.mit.edu	37	chr7	6035166	6035166	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaaattttaaataccTttgctgggtcacaaggccgc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000441476.2_Splice_Site_p.K195T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site_p.K301T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e8+1	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							82	78	80					7																	6035166		2203	4300	6503	SO:0001630	splice_region_variant	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6035166T>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.903+1A>C	7.37:g.6035166T>G						PMS2_ENST00000406569.3_Splice_Site_p.K301_splice|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195_splice|PMS2_ENST00000469652.1_Intron	p.K301_splice	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	8	1007	-		Ovarian(82;0.0694)	301					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	c.903_splice	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	19.36	3.813482	0.70912	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.72	5.72	0.89469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.91129	0.7207	M	0.84082	2.675	0.80722	D	1	P;D;P	0.57899	0.715;0.981;0.88	P;P;P	0.60068	0.47;0.868;0.603	D	0.89580	0.3820	10	0.20519	T	0.43	-21.4466	16.0509	0.80763	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	301;254;195;301	ENSP00000265849:K301T;ENSP00000392843:K195T;ENSP00000384308:K301T	ENSP00000265849:K301T	K	-	2	0	PMS2	6001692	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.957000	0.70323	2.188000	0.69820	0.456000	0.33151	AAG		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Missense_Mutation	60	265	0	0	0	1	0	60	265					G	6035166	T	G	6035166	5	3	79	1	0	0	0	0	0	0	1	0	12185	1623	56	4	1718	4	PMS2	7	6035166	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8050	6035166	153103497	8149	18466											
PMS2	5395	broad.mit.edu	37	chr7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctactaactcctttaccGcagtgcttagactcagtacc	5	13	2	1	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_ENST00000441476.2_5'Flank|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	38					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(112-114)gCg>gTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		G	VAL/ALA	1,2741		0,1,1370	298	362	338		113	5.7	0.9	7	dbSNP_134	338	0,4664		0,0,2332	no	missense	PMS2	NM_000535.5	64	0,1,3702	AA,AG,GG		0.0,0.0365,0.0135	probably-damaging	38/863	6045573	1,7405	1371	2332	3703	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045573G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.113C>T	7.37:g.6045573G>A	ENSP00000265849:p.Ala38Val					PMS2_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron	p.A38V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	218	-		Ovarian(82;0.0694)	38					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.113C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440113	0.96168	3.65E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97378	-4.36;-4.36;-4.36	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71656	0.974;0.55;0.966	D	0.95682	0.8733	10	0.22109	T	0.4	.	19.7586	0.96304	0.0:0.0:1.0:0.0	.	38;38;38	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	38	ENSP00000265849:A38V;ENSP00000371758:A38V;ENSP00000384308:A38V	ENSP00000265849:A38V	A	-	2	0	PMS2	6012099	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	9.367000	0.97148	2.663000	0.90544	0.585000	0.79938	GCG		0.433	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		307	1257	0	0	0	1	0	307	1257					A	6045573	G	A	6045573	3	1	79	1	0	0	0	0	1	0	0	0	12185	1087	38	1	2531	1	PMS2	7	6045573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10407	6045573	153093090	8150	18467											
USP42	84132	broad.mit.edu	37	chr7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacagacacaaaaaaaaGaagaagaaaaagaagagaca	7	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1236	Lys-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(3706-3708)aaG>aaT		ubiquitin specific peptidase 42							34	35	34					7																	6196451		2002	4206	6208	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6196451G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3708G>T	7.37:g.6196451G>T	ENSP00000301962:p.Lys1236Asn						p.K1236N	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	16	3866	+		Ovarian(82;0.0423)	1236			Lys-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.3708G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749452	0.69533	.	.	ENSG00000106346	ENST00000306177	T	0.37584	1.19	5.77	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.45458	0.1343	L	0.34521	1.04	0.30744	N	0.745851	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.48502	-0.9030	10	0.87932	D	0	.	8.7888	0.34837	0.242:0.0:0.758:0.0	.	1132;1236;1236	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	N	1236	ENSP00000301962:K1236N	ENSP00000301962:K1236N	K	+	3	2	USP42	6162976	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.228000	0.32588	0.783000	0.33636	-0.157000	0.13467	AAG		0.463	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		21	111	1	0	1.50039e-11	1	1.60151e-11	21	111					T	6196451	G	T	6196451	3	4	79	1	0	0	0	0	1	0	0	0	17127	933	33	3	2322	3	USP42	7	6196451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150878	6196451	152942212	8151	18468											
CYTH3	9265	broad.mit.edu	37	chr7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttacttactgttgtgtatTcaaagtaatagaggcagtta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(889-891)gAa>gCa		cytohesin 3							77	74	75					7																	6205375		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6205375T>G	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.890A>C	7.37:g.6205375T>G	ENSP00000297044:p.Glu297Ala					CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A	p.E297A	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			10	1026	-			298			PH.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.890A>C	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068314	0.93950	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.77098	-1.07;-1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.75085	2.285	0.80722	D	1	P;B	0.43477	0.808;0.323	P;B	0.53689	0.732;0.183	D	0.86719	0.1941	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	212;297	B7Z2V9;O43739-2	.;.	A	297;212	ENSP00000297044:E297A;ENSP00000379967:E212A	ENSP00000297044:E297A	E	-	2	0	CYTH3	6171900	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.945000	0.87732	2.057000	0.61298	0.459000	0.35465	GAA		0.612	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		55	266	0	0	0	1	0	55	266					G	6205375	T	G	6205375	3	3	79	1	0	0	0	0	1	0	0	0	4216	1783	62	4	325	4	CYTH3	7	6205375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8924	6205375	152933288	8152	18469											
C7orf70	84792	broad.mit.edu	37	chr7	6370120	6370120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaattctattgtttgCtttgaaaacatgggctttaa	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370120C>A	ENST00000313324.4	-	2	1133	c.666G>T	c.(664-666)aaG>aaT	p.K222N	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	222						nucleus (GO:0005634)											CTATTGTTTGCTTTGAAAACA	0.433																																						ENST00000313324.4																			0											c.(664-666)aaG>aaT		family with sequence similarity 220, member A							112	120	117					7																	6370120		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370120C>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.666G>T	7.37:g.6370120C>A	ENSP00000317289:p.Lys222Asn						p.K222N	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	1133	-			222					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.666G>T	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055715	0.19907	.	.	ENSG00000178397	ENST00000313324	T	0.08370	3.1	5.12	2.34	0.29019	.	0.299726	0.23164	U	0.051217	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.35325	-0.9793	10	0.38643	T	0.18	-2.4707	7.3516	0.26695	0.0:0.6558:0.0:0.3442	.	222	Q7Z4H9	SIPAR_HUMAN	N	222	ENSP00000317289:K222N	ENSP00000317289:K222N	K	-	3	2	C7orf70	6336645	0.516000	0.26218	0.001000	0.08648	0.001000	0.01503	0.375000	0.20518	0.574000	0.29417	-0.136000	0.14681	AAG		0.433	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		104	584	1	0	2.6418e-55	1	3.30104e-55	104	584					A	6370120	C	A	6370120	3	1	79	1	0	0	0	0	1	0	0	0	2422	796	28	3	117	3	C7orf70	7	6370120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164745	6370120	152768543	8153	18470											
C7orf70	84792	broad.mit.edu	37	chr7	6370157	6370157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaacggtcaaggaaaatgCgttttgtctcctcactcagg	9	9	4	0	rs551319790		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370157C>T	ENST00000313324.4	-	2	1096	c.629G>A	c.(628-630)cGc>cAc	p.R210H	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	210						nucleus (GO:0005634)											AAGGAAAATGCGTTTTGTCTC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20210	0.0		0.0	False		,,,				2504	0.001					ENST00000313324.4																			0											c.(628-630)cGc>cAc		family with sequence similarity 220, member A							122	131	128					7																	6370157		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370157C>T	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.629G>A	7.37:g.6370157C>T	ENSP00000317289:p.Arg210His						p.R210H	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	1096	-			210					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.629G>A	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775509	0.16051	.	.	ENSG00000178397	ENST00000313324	T	0.06371	3.31	5.44	-2.56	0.06268	.	1.369130	0.04941	U	0.458621	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43605	-0.9381	10	0.17369	T	0.5	-0.0292	0.7341	0.00962	0.2418:0.241:0.1199:0.3973	.	210	Q7Z4H9	SIPAR_HUMAN	H	210	ENSP00000317289:R210H	ENSP00000317289:R210H	R	-	2	0	C7orf70	6336682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.340000	0.07821	-0.605000	0.05753	-1.091000	0.02175	CGC		0.483	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		37	776	0	0	0	1	0	37	776					T	6370157	C	T	6370157	3	4	79	1	0	0	0	0	1	0	0	0	2422	768	27	1	154	1	C7orf70	7	6370157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	6370157	152768506	8154	18471											
DAGLB	221955	broad.mit.edu	37	chr7	6452623	6452623	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacatccttccccaggacGagtgacacgatgaagctctg	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000297056.6	-	12	1639	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	490					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCAGGACGAGTGACACGA	0.557																																						ENST00000428902.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1048-1050)Cgt>Tgt		diacylglycerol lipase, beta							62	59	60					7																	6452623		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6452623G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1470C>T	7.37:g.6452623G>A						DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000297056.6_Silent_p.L490L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000425398.2_Silent_p.L361L	p.R350C			Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	11	1346	-		Ovarian(82;0.232)	0					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1048C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147856	0.09134	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-10.3	0.00346	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54569	-0.8274	5	0.45353	T	0.12	-12.9094	1.8816	0.03229	0.3096:0.1713:0.3495:0.1696	.	.	.	.	C	350	.	ENSP00000416046:R350C	R	-	1	0	DAGLB	6419148	0.010000	0.17322	0.002000	0.10522	0.011000	0.07611	-0.855000	0.04295	-1.904000	0.01092	-2.120000	0.00349	CGT		0.557	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		21	115	0	0	0	1	0	21	115					A	6452623	G	A	6452623	2	1	79	1	0	0	0	0	0	0	0	1	4238	1045	37	1		1	DAGLB	7	6452623	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82466	6452623	152686040	8155	18472											
DAGLB	221955	broad.mit.edu	37	chr7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgactatccaggtggctggGgccggcagaggaatatggag	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000297056.6	-	4	677	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	170					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGTGGCTGGGGCCGGCAGAG	0.498																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(508-510)Ccc>Acc		diacylglycerol lipase, beta							103	102	102					7																	6474563		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474563G>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.508C>A	7.37:g.6474563G>T	ENSP00000297056:p.Pro170Thr					DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron	p.P170T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	677	-		Ovarian(82;0.232)	170					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.508C>A	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230268	0.09969	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.41758	0.99;1.0	5.26	4.3	0.51218	.	0.299368	0.33895	N	0.004445	T	0.26011	0.0634	L	0.33485	1.01	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12430	T	0.62	.	6.8558	0.24040	0.0795:0.1094:0.6567:0.1545	.	170	Q8NCG7	DGLB_HUMAN	T	170;129;170;43	ENSP00000297056:P170T;ENSP00000404785:P129T	ENSP00000297056:P170T	P	-	1	0	DAGLB	6441088	0.299000	0.24426	0.079000	0.20413	0.977000	0.68977	0.768000	0.26590	2.443000	0.82685	0.591000	0.81541	CCC		0.498	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		118	529	1	0	1.09907e-53	1	1.37041e-53	118	529					T	6474563	G	T	6474563	3	4	79	1	0	0	0	0	1	0	0	0	4238	1232	43	3	1558	3	DAGLB	7	6474563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21940	6474563	152664100	8156	18473											
DAGLB	221955	broad.mit.edu	37	chr7	6485682	6485682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagcaaggctccaccaGcacagtccagctttcctctg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000297056.6	-	2	318	c.149C>A	c.(148-150)gCt>gAt	p.A50D	DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame|KDELR2_ENST00000463747.1_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	50					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCTCCACCAGCACAGTCCAG	0.473																																						ENST00000428902.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26								diacylglycerol lipase, beta							124	103	110					7																	6485682		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6485682G>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.149C>A	7.37:g.6485682G>T	ENSP00000297056:p.Ala50Asp					DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000297056.6_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000479922.2_5'UTR				Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	0	238	-		Ovarian(82;0.232)						A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Translation_Start_Site	SNP	ENST00000297056.6	37		CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560885	0.13498	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.42900	1.0;0.96;0.99	4.43	3.52	0.40303	.	0.773939	0.12173	N	0.492814	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.21245	-1.0251	10	0.11794	T	0.64	-7.8396	5.8177	0.18506	0.1701:0.0:0.666:0.1639	.	50;50	B4DQU0;Q8NCG7	.;DGLB_HUMAN	D	50;50;9;50;50	ENSP00000297056:A50D;ENSP00000391171:A50D;ENSP00000404785:A9D	ENSP00000297056:A50D	A	-	2	0	DAGLB	6452207	0.109000	0.22037	0.351000	0.25721	0.398000	0.30690	1.387000	0.34430	2.191000	0.70037	0.485000	0.47835	GCT		0.473	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		92	314	1	0	1.13884e-41	1	1.38436e-41	92	314					T	6485682	G	T	6485682	3	4	79	1	0	0	0	0	1	0	0	0	4238	971	34	3	1925	3	DAGLB	7	6485682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11119	6485682	152652981	8157	18474											
KDELR2	11014	broad.mit.edu	37	chr7	6523680	6523680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtccccagtcagccggaaAatgttcatggcggcggcggc	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000258739.4	-	1	193	c.9T>G	c.(7-9)atT>atG	p.I3M	FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|DAGLB_ENST00000436575.1_De_novo_Start_OutOfFrame|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	3					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCAGCCGGAAAATGTTCATgg	0.726																																						ENST00000436575.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26								diacylglycerol lipase, beta							10	12	11					7																	6523680		2184	4274	6458	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6523680A>C	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.9T>G	7.37:g.6523680A>C	ENSP00000258739:p.Ile3Met					FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000258739.4_Missense_Mutation_p.I3M				Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	0	141	-		Ovarian(82;0.232)						A4D2P4|Q6IPC5|Q96E30	Translation_Start_Site	SNP	ENST00000258739.4	37		CCDS5351.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002241	0.74932	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.49139	0.79	5.12	3.28	0.37604	.	0.048586	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95982	3.75	0.58432	D	0.999999	D;B	0.53619	0.961;0.268	P;B	0.60473	0.875;0.318	T	0.77078	-0.2721	10	0.72032	D	0.01	-16.5231	9.7979	0.40746	0.074:0.0:0.7871:0.1389	.	3;3	P33947-2;P33947	.;ERD22_HUMAN	M	3	ENSP00000258739:I3M	ENSP00000258739:I3M	I	-	3	3	KDELR2	6490205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.576000	0.23744	0.531000	0.28639	-0.253000	0.11424	ATT		0.726	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			15	62	0	0	0	1	0	15	62					C	6523680	A	C	6523680	3	2	79	1	0	0	0	0	1	0	0	0	8150	10	1	4	824	4	KDELR2	7	6523680	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37998	6523680	152614983	8158	18475											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccagactactaacgAgtggtacagaggtgactggg	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	289						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTACTAACGAGTGGTACAGA	0.582																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(865-867)gAg>gGg		zinc finger, DHHC-type containing 4							133	121	125					7																	6628372		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628372A>G	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.866A>G	7.37:g.6628372A>G	ENSP00000379934:p.Glu289Gly					ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G	p.E289G			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1309	+		Ovarian(82;0.232)	289					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.866A>G	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176650	0.78564	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83001	-0.0177	10	0.87932	D	0	-23.2176	12.751	0.57308	1.0:0.0:0.0:0.0	.	289	Q9NPG8	ZDHC4_HUMAN	G	289	ENSP00000385027:E289G;ENSP00000379941:E289G;ENSP00000379935:E289G;ENSP00000337475:E289G;ENSP00000379937:E289G;ENSP00000379934:E289G	ENSP00000337475:E289G	E	+	2	0	ZDHHC4	6594897	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	9.011000	0.93618	1.954000	0.56735	0.533000	0.62120	GAG		0.582	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		35	612	0	0	0	1	0	35	612					G	6628372	A	G	6628372	3	3	79	1	0	0	0	0	1	0	0	0	17670	304	11	4	888	4	ZDHHC4	7	6628372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104692	6628372	152510291	8159	18476											
ZNF12	7559	broad.mit.edu	37	chr7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctctcctgaatgaattcGatgatgtatagtgagatagg	10	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	625					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGAATTCGATGATGTATA	0.413																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1873-1875)Cga>Tga		zinc finger protein 12							81	87	85					7																	6730700		2199	4300	6499	SO:0001587	stop_gained	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730700G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1873C>T	7.37:g.6730700G>A	ENSP00000385939:p.Arg625*					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*	p.R625*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2414	-		Ovarian(82;0.0776)	625					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	ENST00000405858.1	37	c.1873C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	43	9.845057	0.99277	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	4.17	1.09	0.20402	.	0.000000	0.33327	N	0.005033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7017	0.51575	0.0:0.0:0.3034:0.6966	.	.	.	.	X	551;625;587;683	.	ENSP00000344745:R587X	R	-	1	2	ZNF12	6697225	0.000000	0.05858	0.995000	0.50966	0.996000	0.88848	-0.696000	0.05104	0.208000	0.20626	-0.188000	0.12872	CGA		0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		40	188	0	0	0	1	0	40	188					A	6730700	G	A	6730700	4	1	79	1	0	0	0	0	0	1	0	0	17771	1066	37	1	224	1	ZNF12	7	6730700	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102328	6730700	152407963	8160	18477											
COL28A1	340267	broad.mit.edu	37	chr7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccttctgggcctcttgCtcccggaagccccgcttctc	10	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	535	Collagen-like 4.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGGCCTCTTGCTCCCGGAAGC	0.527																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1603-1605)Gca>Tca		collagen, type XXVIII, alpha 1							79	76	77					7																	7483263		1936	4155	6091	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7483263C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1603G>T	7.37:g.7483263C>A	ENSP00000382356:p.Ala535Ser						p.A535S	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	20	1743	-		Ovarian(82;0.0789)	535			Collagen-like 4.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1603G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026728	0.08054	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.93	-4.71	0.03279	.	1.289190	0.05636	U	0.582550	D	0.82323	0.5012	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.073;0.005;0.192	B;B;B	0.28638	0.055;0.01;0.092	T	0.70880	-0.4752	10	0.10111	T	0.7	0.9378	14.3921	0.66986	0.0:0.7642:0.0:0.2358	.	535;535;535	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	S	535	ENSP00000382356:A535S	ENSP00000382347:A535S	A	-	1	0	COL28A1	7449788	0.000000	0.05858	0.058000	0.19502	0.823000	0.46562	-0.681000	0.05191	-0.885000	0.03971	-0.345000	0.07892	GCA		0.527	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		49	180	1	0	2.01872e-29	1	2.35895e-29	49	180					A	7483263	C	A	7483263	3	1	79	1	0	0	0	0	1	0	0	0	3695	797	28	3	1838	3	COL28A1	7	7483263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	752563	7483263	151655400	8161	18478											
COL28A1	340267	broad.mit.edu	37	chr7	7545675	7545675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacccctttgggcctggGtctcctggaggtccagtaat	12	11	1	1	rs368151858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	332	Collagen-like 2.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGGGCCTGGGTCTCCTGGAG	0.448																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(994-996)gaC>gaT		collagen, type XXVIII, alpha 1		G		0,3706		0,0,1853	93	91	92		996	-5.9	0.5	7		92	1,8193		0,1,4096	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,5949	AA,AG,GG		0.0122,0.0,0.0084		332/1126	7545675	1,11899	1853	4097	5950	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7545675G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.996C>T	7.37:g.7545675G>A							p.D332D	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	11	1136	-		Ovarian(82;0.0789)	332			Collagen-like 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.996C>T	CCDS43553.1																																																																																				0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		52	236	0	0	0	1	0	52	236					A	7545675	G	A	7545675	2	1	79	1	0	0	0	0	0	0	0	1	3695	1252	44	2		2	COL28A1	7	7545675	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62412	7545675	151592988	8162	18479											
RPA3	6119	broad.mit.edu	37	chr7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctacgaagcagacaGgcttgtcgatgaattgagct	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000401447.1_5'Flank|RPA3_ENST00000406109.1_Intron	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	24					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	ENST00000223129.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(70-72)cCt>cTt	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A3, 14kDa							116	106	109					7																	7679979		2203	4300	6503	SO:0001583	missense	6119				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding	g.chr7:7679979G>A		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"replication protein A3 (14kD)"			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.71C>T	7.37:g.7679979G>A	ENSP00000223129:p.Pro24Leu					RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000406109.1_Intron	p.P24L	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)	5	1242	-		Ovarian(82;0.0607)	24					Q549U6	Missense_Mutation	SNP	ENST00000223129.4	37	c.71C>T	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116445	0.77323	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.100829	0.64402	D	0.000001	T	0.75925	0.3916	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69367	-0.5164	9	0.09590	T	0.72	-3.567	17.7854	0.88536	0.0:0.0:1.0:0.0	.	24	P35244	RFA3_HUMAN	L	24	.	ENSP00000223129:P24L	P	-	2	0	RPA3	7646504	1.000000	0.71417	0.938000	0.37757	0.937000	0.57800	3.764000	0.55264	2.808000	0.96608	0.655000	0.94253	CCT		0.597	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2	NM_002947		109	481	0	0	0	1	0	109	481					A	7679979	G	A	7679979	3	1	79	1	0	0	0	0	1	0	0	0	13588	1000	35	2	310	2	RPA3	7	7679979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134304	7679979	151458684	8163	18480											
GLCCI1	113263	broad.mit.edu	37	chr7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaagttcggacctctaGtacaataaggcgaacctcct	8	12	2	0	rs547798426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	GLCCI1_ENST00000474269.1_3'UTR|RPA3-AS1_ENST00000469183.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	165						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGACCTCTAGTACAATAAGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.001					ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(493-495)aGt>aAt		glucocorticoid induced transcript 1							121	111	114					7																	8043574		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8043574G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.494G>A	7.37:g.8043574G>A	ENSP00000223145:p.Ser165Asn					AC006465.3_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	p.S165N	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	2	1051	+		Ovarian(82;0.0608)	165					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.494G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380708	0.42207	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.74	0.789	0.18607	.	0.443287	0.25866	N	0.027788	T	0.16428	0.0395	N	0.14661	0.345	0.22354	N	0.999171	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	9	0.22706	T	0.39	-19.5099	5.3351	0.15953	0.3053:0.1403:0.5543:0.0	.	165	Q86VQ1	GLCI1_HUMAN	N	165;53;53	.	ENSP00000223145:S165N	S	+	2	0	GLCCI1	8010099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.488000	0.45276	0.263000	0.21812	0.551000	0.68910	AGT		0.393	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		65	331	0	0	0	1	0	65	331					A	8043574	G	A	8043574	3	1	79	1	0	0	0	0	1	0	0	0	6460	1029	36	2	500	2	GLCCI1	7	8043574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363595	8043574	151095089	8164	18481											
ICA1	3382	broad.mit.edu	37	chr7	8153658	8153658	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggcagtcaggtctgaGgcagccttagcaggttctgg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000265577.7_Silent_p.A448A|ICA1_ENST00000406470.2_Silent_p.A449A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000422063.2_Silent_p.A478A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	449					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1345-1347)gcC>gcA		islet cell autoantigen 1, 69kDa							116	107	110					7																	8153658		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8153658G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1347C>A	7.37:g.8153658G>T						ICA1_ENST00000265577.7_Silent_p.A448A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000422063.2_Silent_p.A478A	p.A449A			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	14	1613	-		Ovarian(82;0.0612)	449					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.1347C>A	CCDS34602.1																																																																																				0.532	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		88	332	1	0	1.55023e-36	1	1.85648e-36	88	332					T	8153658	G	T	8153658	2	4	79	1	0	0	0	0	0	0	0	1	7507	987	35	3		3	ICA1	7	8153658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110084	8153658	150985005	8165	18482											
NXPH1	30010	broad.mit.edu	37	chr7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcattgaatatgaaaaggttGacaaggctaccaagaacaca	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(604-606)Gac>Aac		neurexophilin 1							58	54	55					7																	8791187		1879	4109	5988	SO:0001583	missense	30010					extracellular region		g.chr7:8791187G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.604G>A	7.37:g.8791187G>A	ENSP00000384551:p.Asp202Asn					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	p.D202N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1515	+		Ovarian(82;0.0628)	202			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.604G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	NXPH1	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC		0.433	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		34	101	0	0	0	1	0	34	101					A	8791187	G	A	8791187	3	1	79	1	0	0	0	0	1	0	0	0	10832	1290	45	2	610	2	NXPH1	7	8791187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637529	8791187	150347476	8166	18483											
PHF14	9678	broad.mit.edu	37	chr7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-													tattgtaaaatgtctttgcaAgagagagagaagcaactatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.E524fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.E239fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	524					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1567-1572)caagfs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11075380_11075381delAG	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1569_1570delAG	7.37:g.11075388_11075389delAG	ENSP00000385795:p.Glu524fs					PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	p.QE523fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2021_2022	+			523					A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	c.1569_1570delAG	CCDS47542.1																																																																																				0.376	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		8	975						8	975	---	---	---	---	-	11075381	AG	-	11075380	7	5	79	1	0	1	0	1	0	0	0	0	11867	69	3	0	1599	0	PHF14	7	11075380	Frame_Shift_Del	DEL	AG	TCGA-IB-7651-01A-11D-2154-08	2284193	11075380	148063283	8167	18484											
THSD7A	221981	broad.mit.edu	37	chr7	11415430	11415430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttatatgttacatgtcGgcatctccatcataggctaa	7	8	2	0	rs183786782	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1655					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTACATGTCGGCATCTCCAT	0.408										HNSCC(18;0.044)			G|||	4	0.000798722	0.0008	0.0029	5008	,	,		15227	0.0		0.001	False		,,,				2504	0.0					ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4963-4965)gcC>gcT		thrombospondin, type I, domain containing 7A							161	163	162					7																	11415430		1836	4095	5931	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11415430G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4965C>T	7.37:g.11415430G>A		HNSCC(18;0.044)				AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA	p.A1655A	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	28	5216	-			1655						Silent	SNP	ENST00000423059.4	37	c.4965C>T	CCDS47543.1																																																																																				0.408	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		48	447	0	0	0	1	0	48	447					A	11415430	G	A	11415430	2	1	79	1	0	0	0	0	0	0	0	1	15931	1103	39	1		1	THSD7A	7	11415430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340050	11415430	147723233	8168	18485											
THSD7A	221981	broad.mit.edu	37	chr7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagctgacagttcacaGggcattccaccatgcaggac	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1284	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGTTCACAGGGCATTCCAC	0.458										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3850-3852)cCt>cAt		thrombospondin, type I, domain containing 7A							75	75	75					7																	11446998		1964	4159	6123	SO:0001583	missense	221981					integral to membrane		g.chr7:11446998G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3851C>A	7.37:g.11446998G>T	ENSP00000406482:p.Pro1284His	HNSCC(18;0.044)				AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.P1284H	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	20	4102	-			1284			TSP type-1 12.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3851C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869879	0.91587	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.048208	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71581	2.175	0.80722	D	1	D	0.53619	0.961	P	0.57548	0.823	T	0.78804	-0.2060	10	0.87932	D	0	.	19.518	0.95171	0.0:0.0:1.0:0.0	.	1284	Q9UPZ6	THS7A_HUMAN	H	1284	ENSP00000406482:P1284H	ENSP00000262042:P1284H	P	-	2	0	THSD7A	11413523	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.680000	0.98651	2.679000	0.91253	0.585000	0.79938	CCT		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	125	1	0	6.53275e-17	1	7.19348e-17	10	125					T	11446998	G	T	11446998	3	4	79	1	0	0	0	0	1	0	0	0	15931	1000	35	3	1158	3	THSD7A	7	11446998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31568	11446998	147691665	8169	18486											
THSD7A	221981	broad.mit.edu	37	chr7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagggccatctgctgtatTctgcatgcatctagaaaaga	10	8	3	3	rs372785004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1132	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGCTGTATTCTGCATGCAT	0.418										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3394-3396)Aat>Cat		thrombospondin, type I, domain containing 7A		T	HIS/ASN	0,3760		0,0,1880	98	93	95		3394	5.4	1	7		95	1,8217		0,1,4108	no	missense	THSD7A	NM_015204.2	68	0,1,5988	GG,GT,TT		0.0122,0.0,0.0083	probably-damaging	1132/1658	11457220	1,11977	1880	4109	5989	SO:0001583	missense	221981					integral to membrane		g.chr7:11457220T>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3394A>C	7.37:g.11457220T>G	ENSP00000406482:p.Asn1132His	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.N1132H	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	17	3645	-			1132			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3394A>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213011	0.79352	0.0	1.22E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.76955	-0.2767	10	0.39692	T	0.17	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1132	Q9UPZ6	THS7A_HUMAN	H	1132	ENSP00000406482:N1132H	ENSP00000262042:N1132H	N	-	1	0	THSD7A	11423745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.031000	0.88826	2.038000	0.60285	0.533000	0.62120	AAT		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		31	190	0	0	0	1	0	31	190					G	11457220	T	G	11457220	3	3	79	1	0	0	0	0	1	0	0	0	15931	1783	62	4	1627	4	THSD7A	7	11457220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10222	11457220	147681443	8170	18487											
THSD7A	221981	broad.mit.edu	37	chr7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagggccgtctggttgcCgcgcctcttgtcctgctgac	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	449	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCTGGTTGCCGCGCCTCTTG	0.557										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1345-1347)Ggc>Agc		thrombospondin, type I, domain containing 7A							50	56	54					7																	11630195		1994	4165	6159	SO:0001583	missense	221981					integral to membrane		g.chr7:11630195C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1345G>A	7.37:g.11630195C>T	ENSP00000406482:p.Gly449Ser	HNSCC(18;0.044)					p.G449S	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1596	-			449			TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1345G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132081	0.21041	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57107	0.42	5.8	4.91	0.64330	.	0.138816	0.64402	D	0.000003	T	0.26846	0.0657	N	0.04297	-0.235	0.47778	D	0.999515	B	0.06786	0.001	B	0.04013	0.001	T	0.16958	-1.0385	10	0.05525	T	0.97	.	14.2875	0.66256	0.0:0.9292:0.0:0.0708	.	449	Q9UPZ6	THS7A_HUMAN	S	449	ENSP00000406482:G449S	ENSP00000262042:G449S	G	-	1	0	THSD7A	11596720	0.771000	0.28555	0.457000	0.27056	0.876000	0.50452	2.212000	0.42835	2.748000	0.94277	0.655000	0.94253	GGC		0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		38	194	0	0	0	1	0	38	194					T	11630195	C	T	11630195	3	4	79	1	0	0	0	0	1	0	0	0	15931	652	23	1	3724	1	THSD7A	7	11630195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172975	11630195	147508468	8171	18488											
THSD7A	221981	broad.mit.edu	37	chr7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacaggggacaactccAtctccttgagacaaacaggg	12	11	1	1	rs536193671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	417					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACAACTCCATCTCCTTGAG	0.443										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1249-1251)gaT>gaG		thrombospondin, type I, domain containing 7A							88	84	85					7																	11632901		1904	4129	6033	SO:0001583	missense	221981					integral to membrane		g.chr7:11632901A>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1251T>G	7.37:g.11632901A>C	ENSP00000406482:p.Asp417Glu	HNSCC(18;0.044)					p.D417E	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	3	1502	-			417						Missense_Mutation	SNP	ENST00000423059.4	37	c.1251T>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.406718	0.01155	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.41	0.0744	0.14395	.	0.089564	0.85682	N	0.000000	T	0.30792	0.0776	N	0.20445	0.575	0.41229	D	0.986567	B	0.02656	0.0	B	0.11329	0.006	T	0.31166	-0.9953	10	0.02654	T	1	.	6.6762	0.23095	0.5439:0.1212:0.3349:0.0	.	417	Q9UPZ6	THS7A_HUMAN	E	417	ENSP00000406482:D417E	ENSP00000262042:D417E	D	-	3	2	THSD7A	11599426	0.000000	0.05858	0.185000	0.23176	0.032000	0.12392	-0.361000	0.07612	-0.210000	0.10140	-0.361000	0.07541	GAT		0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		48	177	0	0	0	1	0	48	177					C	11632901	A	C	11632901	3	2	79	1	0	0	0	0	1	0	0	0	15931	214	8	4	3822	4	THSD7A	7	11632901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2706	11632901	147505762	8172	18489											
THSD7A	221981	broad.mit.edu	37	chr7	11676485	11676485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctctcggcctgcttacaGttagtatgcagtgtagtcca	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	98	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCTTACAGTTAGTATGCA	0.512										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(292-294)aaC>aaT		thrombospondin, type I, domain containing 7A							85	86	85					7																	11676485		2038	4193	6231	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676485G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.294C>T	7.37:g.11676485G>A		HNSCC(18;0.044)				THSD7A_ENST00000480061.1_5'UTR	p.N98N	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	545	-			98			TSP type-1 1.			Silent	SNP	ENST00000423059.4	37	c.294C>T	CCDS47543.1																																																																																				0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		76	356	0	0	0	1	0	76	356					A	11676485	G	A	11676485	2	1	79	1	0	0	0	0	0	0	0	1	15931	1020	36	2		2	THSD7A	7	11676485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43584	11676485	147462178	8173	18490											
SCIN	85477	broad.mit.edu	37	chr7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcatttttcagatatTtatttggattggcaaagatg	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_Missense_Mutation_p.F408C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	655	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCAGATATTTATTTGGATT	0.378																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1963-1965)tTt>tGt		scinderin							164	152	156					7																	12691470		1844	4091	5935	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12691470T>G	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1964T>G	7.37:g.12691470T>G	ENSP00000297029:p.Phe655Cys					SCIN_ENST00000519209.1_Missense_Mutation_p.F408C|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C	p.F655C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	15	2065	+			655			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1964T>G	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345147	0.82022	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30182	1.54;1.54;1.54	5.74	5.74	0.90152	Gelsolin domain (1);	0.099917	0.64402	D	0.000001	T	0.69940	0.3167	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81364	-0.0966	10	0.87932	D	0	-18.8659	16.0395	0.80654	0.0:0.0:0.0:1.0	.	655	Q9Y6U3	ADSV_HUMAN	C	655;408;408	ENSP00000297029:F655C;ENSP00000430997:F408C;ENSP00000390189:F408C	ENSP00000297029:F655C	F	+	2	0	SCIN	12657995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.188000	0.77739	2.188000	0.69820	0.533000	0.62120	TTT		0.378	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		12	51	0	0	0	1	0	12	51					G	12691470	T	G	12691470	3	3	79	1	0	0	0	0	1	0	0	0	13955	1841	64	4	2022	4	SCIN	7	12691470	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1014985	12691470	146447193	8174	18491											
ARL4A	10124	broad.mit.edu	37	chr7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggacttgagaaactacatGatatgatcattaaaagaaga	8	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(550-552)Gat>Aat		ADP-ribosylation factor-like 4A							49	50	50					7																	12728429		2199	4287	6486	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728429G>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	695	protein-coding gene	gene with protein product		604786	"ADP-ribosylation factor-like 4"	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.550G>A	7.37:g.12728429G>A	ENSP00000379898:p.Asp184Asn					ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N	p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	1032	+			184					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.550G>A	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037124	0.35893	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.58	3.69	0.42338	.	0.430161	0.24601	N	0.037122	T	0.70193	0.3196	N	0.17379	0.485	0.37735	D	0.92541	P	0.40731	0.728	B	0.43701	0.428	T	0.69558	-0.5113	10	0.02654	T	1	.	12.8581	0.57897	0.0794:0.0:0.9206:0.0	.	184	P40617	ARL4A_HUMAN	N	184	ENSP00000379897:D184N;ENSP00000349250:D184N;ENSP00000379899:D184N;ENSP00000379898:D184N;ENSP00000385236:D184N	ENSP00000349250:D184N	D	+	1	0	ARL4A	12694954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.434000	0.66526	1.273000	0.44346	0.585000	0.79938	GAT		0.393	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		69	322	0	0	0	1	0	69	322					A	12728429	G	A	12728429	3	1	79	1	0	0	0	0	1	0	0	0	937	1290	45	2	552	2	ARL4A	7	12728429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36959	12728429	146410234	8175	18492											
ETV1	2115	broad.mit.edu	37	chr7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtccaggcaataaaatgaGaatttgaagggtcatccaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000430479.1	-	12	1719	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	351					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|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)	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)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATAAAATGAGAATTTGAAGG	0.433			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(997-999)tCt>tTt		ets variant 1							61	62	61					7																	13946113		1884	4125	6009	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13946113G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1052C>T	7.37:g.13946113G>A	ENSP00000405327:p.Ser351Phe					ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000430479.1_Missense_Mutation_p.S351F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F	p.S333F			P50549	ETV1_HUMAN			11	1736	-			351					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.998C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778141	0.90195	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;0.998;0.998;0.998;0.997	D;P;D;D;D;D;D	0.83275	0.989;0.905;0.972;0.992;0.993;0.996;0.961	T	0.75950	-0.3137	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	339;333;365;293;248;311;351	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	351;333;333;293;248;328;365;311;351;333	ENSP00000405327:S351F;ENSP00000242066:S333F;ENSP00000340853:S333F;ENSP00000411626:S293F;ENSP00000382293:S248F;ENSP00000385381:S328F;ENSP00000384085:S365F;ENSP00000384138:S311F;ENSP00000385551:S351F;ENSP00000385686:S333F	ENSP00000242066:S333F	S	-	2	0	ETV1	13912638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.793000	0.96121	0.591000	0.81541	TCT		0.433	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		16	65	0	0	0	1	0	16	65					A	13946113	G	A	13946113	3	1	79	1	0	0	0	0	1	0	0	0	5295	942	33	2	393	2	ETV1	7	13946113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1217684	13946113	145192550	8176	18493											
ETV1	2115	broad.mit.edu	37	chr7	14025798	14025798	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcacttaaatcttgaaGcatcccgtcctgatgaaccc	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14025798G>A	ENST00000430479.1	-	5	849				ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000420159.2_Missense_Mutation_p.L2F|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F|ETV1_ENST00000403685.1_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1						axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|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)	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)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATCTTGAAGCATCCCGTCC	0.398			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000420159.2				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(4-6)Ctt>Ttt		ets variant 1							89	75	79					7																	14025798		1567	3576	5143	SO:0001627	intron_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14025798G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.181+464C>T	7.37:g.14025798G>A						ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F	p.L2F	NM_001163151.1	NP_001156623.1	P50549	ETV1_HUMAN			1	341	-			0					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.4C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406125	0.83230	.	.	ENSG00000006468	ENST00000420159;ENST00000399357;ENST00000403527;ENST00000438956;ENST00000443608	T;T;T;T;T	0.39406	2.82;2.51;2.49;1.81;1.08	5.88	5.88	0.94601	.	.	.	.	.	T	0.42539	0.1207	N	0.08118	0	0.40231	D	0.977846	D;P;D	0.69078	0.997;0.932;0.995	D;P;D	0.75484	0.986;0.879;0.969	T	0.18335	-1.0340	9	0.02654	T	1	.	20.297	0.98561	0.0:0.0:1.0:0.0	.	2;2;2	F5GXR2;B7Z9P2;E9PHB1	.;.;.	F	2	ENSP00000411626:L2F;ENSP00000382293:L2F;ENSP00000384138:L2F;ENSP00000393078:L2F;ENSP00000394710:L2F	ENSP00000382293:L2F	L	-	1	0	ETV1	13992323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.805000	0.96524	0.551000	0.68910	CTT		0.398	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		10	38	0	0	0	1	0	10	38					A	14025798	G	A	14025798	1	1	79	0	1	0	0	0	0	0	0	0	5295	971	34	2		2	ETV1	7	14025798	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79685	14025798	145112865	8177	18494											
DGKB	1607	broad.mit.edu	37	chr7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatttttcctggtttgTcatggtggtggtgagaagct	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000399322.3_Missense_Mutation_p.T2P|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	2					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)			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						TCCTGGTTTGTCATGGTGGTG	0.408																																						ENST00000403951.2																			0				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						c.(4-6)Aca>Cca		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						84	83	83					7																	14880885		1883	4103	5986	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.chr7:14880885T>G	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.4A>C	7.37:g.14880885T>G	ENSP00000385780:p.Thr2Pro					DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P	p.T2P			Q9Y6T7	DGKB_HUMAN			2	423	-			2					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.4A>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210761	0.58343	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.32	5.43	5.43	0.79202	.	0.123212	0.53938	D	0.000053	T	0.72463	0.3463	N	0.22421	0.69	0.36102	D	0.844197	P;B;P;P	0.51537	0.91;0.118;0.946;0.91	B;B;B;B	0.43680	0.245;0.095;0.427;0.245	T	0.81521	-0.0895	10	0.72032	D	0.01	.	14.5048	0.67746	0.0:0.0:0.0:1.0	.	2;2;2;2	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	2	ENSP00000385780:T2P;ENSP00000382260:T2P;ENSP00000258767:T2P;ENSP00000384909:T2P;ENSP00000385031:T2P;ENSP00000388451:T2P;ENSP00000386066:T2P	ENSP00000258767:T2P	T	-	1	0	DGKB	14847410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.211000	0.65219	2.078000	0.62432	0.381000	0.24937	ACA		0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		21	100	0	0	0	1	0	21	100					G	14880885	T	G	14880885	3	3	79	1	0	0	0	0	1	0	0	0	4482	1667	58	4	2525	4	DGKB	7	14880885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855087	14880885	144257778	8178	18495											
TMEM195	392636	broad.mit.edu	37	chr7	15599824	15599824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagcatcatccaggcgacCtggtggctttcctttgagaa	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:15599824C>A	ENST00000342526.3	-	2	368	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	67					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)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCAGGCGACCTGGTGGCTTT	0.438																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(199-201)Ggt>Tgt		alkylglycerol monooxygenase							118	108	111					7																	15599824		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.chr7:15599824C>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.199G>T	7.37:g.15599824C>A	ENSP00000341662:p.Gly67Cys						p.G67C	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			2	368	-			67					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.199G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073690	0.55646	.	.	ENSG00000187546	ENST00000342526	T	0.32023	1.47	5.93	4.13	0.48395	.	0.243211	0.42420	D	0.000712	T	0.39172	0.1068	L	0.57536	1.79	0.09310	N	0.999998	P	0.49358	0.923	P	0.53146	0.719	T	0.19418	-1.0306	10	0.52906	T	0.07	-13.2306	7.9099	0.29785	0.0:0.7277:0.1329:0.1394	.	67	Q6ZNB7	ALKMO_HUMAN	C	67	ENSP00000341662:G67C	ENSP00000341662:G67C	G	-	1	0	AGMO	15566349	0.003000	0.15002	0.594000	0.28785	0.021000	0.10359	1.320000	0.33666	1.508000	0.48769	0.655000	0.94253	GGT		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		74	279	1	0	3.41413e-29	1	3.98584e-29	74	279					A	15599824	C	A	15599824	3	1	79	1	0	0	0	0	1	0	0	0	16169	681	24	3	1186	3	TMEM195	7	15599824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	718939	15599824	143538839	8179	18496											
TSPAN13	27075	broad.mit.edu	37	chr7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgttggtggcattggccTgttcttcagttttacagagg	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	174						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(520-522)cTg>cCg		tetraspanin 13							166	156	160					7																	16818722		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16818722T>C	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.521T>C	7.37:g.16818722T>C	ENSP00000262067:p.Leu174Pro						p.L174P	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	5	954	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		174						Missense_Mutation	SNP	ENST00000262067.4	37	c.521T>C	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957719	0.73902	.	.	ENSG00000106537	ENST00000262067	D	0.82984	-1.67	5.75	4.58	0.56647	.	0.172861	0.52532	D	0.000066	D	0.90920	0.7146	M	0.86651	2.83	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	D	0.91774	0.5430	10	0.87932	D	0	-10.9269	13.1148	0.59294	0.0:0.0:0.1338:0.8662	.	174	O95857	TSN13_HUMAN	P	174	ENSP00000262067:L174P	ENSP00000262067:L174P	L	+	2	0	TSPAN13	16785247	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.994000	0.88315	0.984000	0.38629	0.459000	0.35465	CTG		0.423	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		54	191	0	0	0	1	0	54	191					C	16818722	T	C	16818722	3	2	79	1	0	0	0	0	1	0	0	0	16690	1580	55	4	539	4	TSPAN13	7	16818722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1218898	16818722	142319941	8180	18497											
AGR2	10551	broad.mit.edu	37	chr7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacacagagctgtatctgCaggttcgtaagcatagagac	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000401412.1_Missense_Mutation_p.A155T|AGR2_ENST00000419572.2_Missense_Mutation_p.A175T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	155					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448																																						ENST00000419304.2																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(463-465)Gca>Aca		anterior gradient 2							151	120	131					7																	16834575		2203	4300	6503	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16834575C>T	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.463G>A	7.37:g.16834575C>T	ENSP00000391490:p.Ala155Thr					AGR2_ENST00000419572.2_Missense_Mutation_p.A175T|AGR2_ENST00000401412.1_Missense_Mutation_p.A155T	p.A155T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	7	615	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		155						Missense_Mutation	SNP	ENST00000419304.2	37	c.463G>A	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514783	0.27123	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	.	.	.	5.65	0.0928	0.14474	.	0.354493	0.28104	N	0.016599	T	0.27384	0.0672	L	0.46157	1.445	0.28199	N	0.927427	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	9	0.35671	T	0.21	-13.2225	2.4542	0.04525	0.4416:0.2555:0.0657:0.2372	.	155	O95994	AGR2_HUMAN	T	155;85;175;155	.	ENSP00000386025:A155T	A	-	1	0	AGR2	16801100	0.444000	0.25649	0.856000	0.33681	0.597000	0.36814	0.228000	0.17814	0.082000	0.17018	-2.055000	0.00403	GCA		0.448	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		39	212	0	0	0	1	0	39	212					T	16834575	C	T	16834575	3	4	79	1	0	0	0	0	1	0	0	0	395	710	25	2	72	2	AGR2	7	16834575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15853	16834575	142304088	8181	18498											
SNX13	23161	broad.mit.edu	37	chr7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctaataagctgttgaaGtaggtttttgatattccttc	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	812					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCTGTTGAAGTAGGTTTTTG	0.363																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2434-2436)Ctt>Att		sorting nexin 13							181	168	172					7																	17838675		1841	4083	5924	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838675G>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2434C>A	7.37:g.17838675G>T	ENSP00000386705:p.Leu812Ile					SNX13_ENST00000428135.3_Missense_Mutation_p.L801I|SNX13_ENST00000496855.1_5'UTR	p.L812I			Q9Y5W8	SNX13_HUMAN			23	2606	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		812					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2434C>A		.	.	.	.	.	.	.	.	.	.	G	33	5.239787	0.95240	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.35789	1.29;1.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.996	D;D;D	0.68943	0.961;0.941;0.929	T	0.58335	-0.7654	10	0.39692	T	0.17	-15.0832	19.8167	0.96571	0.0:0.0:1.0:0.0	.	598;812;801	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	I	812;801;849	ENSP00000386705:L812I;ENSP00000398789:L801I	ENSP00000242044:L849I	L	-	1	0	SNX13	17805200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.330000	0.96422	2.679000	0.91253	0.563000	0.77884	CTT		0.363	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		55	272	1	0	9.55421e-19	1	1.06232e-18	55	272					T	17838675	G	T	17838675	3	4	79	1	0	0	0	0	1	0	0	0	14934	1029	36	3	488	3	SNX13	7	17838675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004100	17838675	141299988	8182	18499											
SNX13	23161	broad.mit.edu	37	chr7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagttgagccgaaactcGgcgatgttcagggtctgaat	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	769					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCCGAAACTCGGCGATGTTCA	0.338																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2305-2307)Cga>Tga		sorting nexin 13							71	65	67					7																	17841237		1844	4085	5929	SO:0001587	stop_gained	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17841237G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2305C>T	7.37:g.17841237G>A	ENSP00000386705:p.Arg769*					SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*|SNX13_ENST00000496855.1_5'UTR	p.R769*			Q9Y5W8	SNX13_HUMAN			22	2477	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		769					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37	c.2305C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.625400	0.98890	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.7544	15.5809	0.76439	0.066:0.0:0.934:0.0	.	.	.	.	X	769;758;806	.	ENSP00000242044:R806X	R	-	1	2	SNX13	17807762	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.808000	0.75206	1.574000	0.49760	0.650000	0.86243	CGA		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		15	64	0	0	0	1	0	15	64					A	17841237	G	A	17841237	4	1	79	1	0	0	0	0	0	1	0	0	14934	1124	39	1	621	1	SNX13	7	17841237	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2562	17841237	141297426	8183	18500											
SNX13	23161	broad.mit.edu	37	chr7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctgctaattttgctactAaatagtcatcaacagtaact	4	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	464	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTGCTACTAAATAGTCATC	0.299																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1390-1392)tTa>tCa		sorting nexin 13							52	51	51					7																	17874457		1807	4054	5861	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17874457A>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1391T>C	7.37:g.17874457A>G	ENSP00000386705:p.Leu464Ser					SNX13_ENST00000428135.3_Missense_Mutation_p.L464S	p.L464S			Q9Y5W8	SNX13_HUMAN			14	1563	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		464			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.1391T>C		.	.	.	.	.	.	.	.	.	.	A	13.31	2.200319	0.38905	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02446	4.29;4.29	5.04	5.04	0.67666	.	0.143577	0.49305	D	0.000153	T	0.02767	0.0083	N	0.11427	0.14	0.80722	D	1	B;P;P	0.41498	0.247;0.752;0.576	B;B;B	0.42625	0.098;0.393;0.119	T	0.65672	-0.6111	10	0.42905	T	0.14	-7.5475	15.076	0.72077	1.0:0.0:0.0:0.0	.	261;464;464	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	464;464;512	ENSP00000386705:L464S;ENSP00000398789:L464S	ENSP00000242044:L512S	L	-	2	0	SNX13	17840982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.026000	0.59711	0.402000	0.26972	TTA		0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		15	130	0	0	0	1	0	15	130					G	17874457	A	G	17874457	3	3	79	1	0	0	0	0	1	0	0	0	14934	372	13	4	1534	4	SNX13	7	17874457	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33220	17874457	141264206	8184	18501											
SNX13	23161	broad.mit.edu	37	chr7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcgtaagtgtgtgccaaAgtcatctacaatgcgtgtag	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	165	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGTGTGCCAAAGTCATCTACA	0.313																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(493-495)Ttt>Gtt		sorting nexin 13							140	123	128					7																	17915361		1829	4084	5913	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915361A>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.493T>G	7.37:g.17915361A>C	ENSP00000386705:p.Phe165Val					SNX13_ENST00000428135.3_Missense_Mutation_p.F165V	p.F165V			Q9Y5W8	SNX13_HUMAN			6	665	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		165			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.493T>G		.	.	.	.	.	.	.	.	.	.	A	16.29	3.080667	0.55753	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.52905	1.665	0.80722	D	1	P;B;P	0.37207	0.587;0.437;0.459	B;B;B	0.42319	0.383;0.349;0.264	T	0.02026	-1.1227	10	0.05620	T	0.96	-15.2192	15.6101	0.76710	1.0:0.0:0.0:0.0	.	165;165;165	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	165;165;213	ENSP00000386705:F165V;ENSP00000398789:F165V	ENSP00000242044:F213V	F	-	1	0	SNX13	17881886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.472000	0.90407	2.074000	0.62210	0.533000	0.62120	TTT		0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		17	89	0	0	0	1	0	17	89					C	17915361	A	C	17915361	3	2	79	1	0	0	0	0	1	0	0	0	14934	72	3	4	2464	4	SNX13	7	17915361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40904	17915361	141223302	8185	18502											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggctgggccagaaaagattCcatgagtcaagatagcataa	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	251					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(751-753)gGa>gTa		phosphoribosyl pyrophosphate synthetase 1-like 1							103	103	103					7																	18066654		2200	4300	6500	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066654C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.752G>T	7.37:g.18066654C>A	ENSP00000424595:p.Gly251Val						p.G251V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	832	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		251					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.752G>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757981	0.49468	.	.	ENSG00000229937	ENST00000506618	D	0.82893	-1.66	4.44	4.44	0.53790	.	.	.	.	.	D	0.94696	0.8289	H	0.98754	4.32	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.96343	0.9252	8	0.66056	D	0.02	.	14.9557	0.71110	0.0:1.0:0.0:0.0	.	251	P21108	PRPS3_HUMAN	V	251	ENSP00000424595:G251V	ENSP00000424595:G251V	G	-	2	0	PRPS1L1	18033179	1.000000	0.71417	0.845000	0.33349	0.246000	0.25737	7.115000	0.77110	2.482000	0.83794	0.650000	0.86243	GGA		0.458	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		82	405	1	0	2.47556e-37	1	2.97223e-37	82	405					A	18066654	C	A	18066654	3	1	79	1	0	0	0	0	1	0	0	0	12626	855	30	3	208	3	PRPS1L1	7	18066654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151293	18066654	141072009	8186	18503											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067034	18067034	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatgtaggtccatggtgatGatatgatccgcacctgctat	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	124					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(370-372)atC>atT		phosphoribosyl pyrophosphate synthetase 1-like 1							146	144	145					7																	18067034		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067034G>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.372C>T	7.37:g.18067034G>A							p.I124I	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	452	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		124					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.372C>T	CCDS47552.1																																																																																				0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		124	510	0	0	0	1	0	124	510					A	18067034	G	A	18067034	2	1	79	1	0	0	0	0	0	0	0	1	12626	1280	45	2		2	PRPS1L1	7	18067034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380	18067034	141071629	8187	18504											
HDAC9	9734	broad.mit.edu	37	chr7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaggcaagaacaggaagtaGagaggcatcgcagagaacag	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000432645.2	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	116					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(346-348)Gag>Aag		histone deacetylase 9	Valproic Acid(DB00313)						70	74	73					7																	18630049		2063	4219	6282	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18630049G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.346G>A	7.37:g.18630049G>A	ENSP00000410337:p.Glu116Lys					HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E116K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K	p.E116K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			4	496	+	all_lung(11;0.187)		116					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.346G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814642	0.96982	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.54;0.44;0.54;0.62;0.11;0.6;0.49;-0.01;0.11;0.08;0.44;0.6;0.63	5.75	5.75	0.90469	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000007	T	0.79287	0.4420	M	0.68317	2.08	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.623;0.997;0.997;0.996;0.996;0.999;0.999;0.996;0.998;0.997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.85130	0.994;0.996;0.99;0.739;0.994;0.992;0.99;0.99;0.997;0.995;0.99;0.994;0.994	T	0.78912	-0.2017	10	0.56958	D	0.05	-16.8947	19.9433	0.97172	0.0:0.0:1.0:0.0	.	85;88;116;147;158;119;119;119;116;88;116;116;138	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	158;161;119;119;116;116;116;147;119;116;119;85;88;85;116	ENSP00000401669:E158K;ENSP00000412497:E119K;ENSP00000392564:E119K;ENSP00000384382:E116K;ENSP00000384657:E116K;ENSP00000395655:E116K;ENSP00000384017:E147K;ENSP00000383912:E119K;ENSP00000410337:E116K;ENSP00000408617:E119K;ENSP00000404763:E85K;ENSP00000388568:E88K;ENSP00000430036:E85K	ENSP00000262069:E161K	E	+	1	0	HDAC9	18596574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	2.716000	0.92895	0.655000	0.94253	GAG		0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	48	0	0	0	1	0	18	48					A	18630049	G	A	18630049	3	1	79	1	0	0	0	0	1	0	0	0	7044	943	33	2	365	2	HDAC9	7	18630049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563015	18630049	140508614	8188	18505											
HDAC9	9734	broad.mit.edu	37	chr7	18631230	18631230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccaactaatggaaaaaaTcattccgtgagccgccatcc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000432645.2	+	4	498	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000441542.2_Silent_p.N169N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	166					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(496-498)aaT>aaC		histone deacetylase 9	Valproic Acid(DB00313)						84	85	85					7																	18631230		1954	4153	6107	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18631230T>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.498T>C	7.37:g.18631230T>C						HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000432645.2_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000405010.3_Silent_p.N166N	p.N166N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			5	648	+	all_lung(11;0.187)		166					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.498T>C	CCDS47555.1																																																																																				0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			13	165	0	0	0	1	0	13	165					C	18631230	T	C	18631230	2	2	79	1	0	0	0	0	0	0	0	1	7044	1432	50	4		4	HDAC9	7	18631230	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1181	18631230	140507433	8189	18506											
HDAC9	9734	broad.mit.edu	37	chr7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatcccggcatcttccAgccaccctcatgttacttta	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000432645.2	+	9	1129	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	377					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1129-1131)Agc>Ggc		histone deacetylase 9	Valproic Acid(DB00313)						39	41	40					7																	18687510		2066	4215	6281	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687510A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1129A>G	7.37:g.18687510A>G	ENSP00000410337:p.Ser377Gly					HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000432645.2_Missense_Mutation_p.S377G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G	p.S377G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			10	1279	+	all_lung(11;0.187)		377					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1129A>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	4.986	0.183198	0.09495	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.95;0.97;0.38;0.96;0.96;0.37;0.37;0.38;0.96;0.96	5.64	3.28	0.37604	.	0.269718	0.32640	N	0.005823	T	0.30198	0.0757	N	0.16656	0.425	0.23386	N	0.997783	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.002;0.001;0.0;0.0;0.001;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.0;0.002;0.0;0.002;0.001;0.0;0.0;0.001;0.001;0.001	T	0.11966	-1.0566	10	0.20519	T	0.43	-15.7169	6.3135	0.21178	0.7234:0.1346:0.142:0.0	.	300;349;377;364;375;377;380;336;380;377;349;377;377;355	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	375;378;377;377;333;364;336;377;380;349;300;377	ENSP00000401669:S375G;ENSP00000384382:S377G;ENSP00000384657:S377G;ENSP00000395655:S333G;ENSP00000384017:S364G;ENSP00000383912:S336G;ENSP00000410337:S377G;ENSP00000408617:S380G;ENSP00000388568:S349G;ENSP00000430036:S300G	ENSP00000262069:S378G	S	+	1	0	HDAC9	18654035	0.128000	0.22383	0.970000	0.41538	0.081000	0.17604	0.574000	0.23714	0.963000	0.38082	0.477000	0.44152	AGC		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			16	90	0	0	0	1	0	16	90					G	18687510	A	G	18687510	3	3	79	1	0	0	0	0	1	0	0	0	7044	188	7	4	1172	4	HDAC9	7	18687510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56280	18687510	140451153	8190	18507											
HDAC9	9734	broad.mit.edu	37	chr7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggacagaagctggaccccaGgatactcctaggtctgtacg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000432645.2	+	14	2144	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M|HDAC9_ENST00000406451.4_Missense_Mutation_p.R715M|HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	715	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2143-2145)aGg>aTg		histone deacetylase 9	Valproic Acid(DB00313)						53	54	53					7																	18801889		1956	4143	6099	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18801889G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2144G>T	7.37:g.18801889G>T	ENSP00000410337:p.Arg715Met					HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000432645.2_Missense_Mutation_p.R715M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M	p.R715M	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			15	2294	+	all_lung(11;0.187)		715			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2144G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796699	0.70567	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.076195	0.56097	D	0.000031	T	0.72326	0.3446	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P;P	0.47191	0.63;0.891;0.891;0.801;0.891;0.801	B;P;P;P;P;P	0.53988	0.205;0.621;0.621;0.739;0.621;0.628	T	0.72357	-0.4318	10	0.51188	T	0.08	-18.5514	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	715;674;718;715;715;693	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	M	715;674;715;718;627	ENSP00000384657:R715M;ENSP00000383912:R674M;ENSP00000410337:R715M;ENSP00000408617:R718M	ENSP00000339165:R627M	R	+	2	0	HDAC9	18768414	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.175000	0.58263	2.776000	0.95493	0.655000	0.94253	AGG		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			25	109	1	0	1.42536e-11	1	1.52187e-11	25	109					T	18801889	G	T	18801889	3	4	79	1	0	0	0	0	1	0	0	0	7044	1000	35	3	2258	3	HDAC9	7	18801889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114379	18801889	140336774	8191	18508											
TWISTNB	221830	broad.mit.edu	37	chr7	19744544	19744544	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagggacacctaaaaggCtgtaaaaagaaaaagttgaa	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1		MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor						transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.e2-1		TWIST neighbor							66	67	67					7																	19744544		2203	4300	6503	SO:0001630	splice_region_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19744544C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.255-1G>A	7.37:g.19744544C>T								NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			2	325	-								A0PJ45|B7Z724	Splice_Site	SNP	ENST00000222567.5	37		CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533348	0.45073	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWISTNB	19711069	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.716000	0.74702	2.531000	0.85337	0.655000	0.94253	.		0.368	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		Intron	42	207	0	0	0	1	0	42	207					T	19744544	C	T	19744544	5	4	79	1	0	0	0	0	0	0	1	0	16838	811	28	2	774	2	TWISTNB	7	19744544	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942655	19744544	139394119	8192	18509											
TWISTNB	221830	broad.mit.edu	37	chr7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcggcataagtcggcaactCtaggcaaggcaggacgccag	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	30					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(88-90)Gag>Tag		TWIST neighbor							39	34	36					7																	19748552		2203	4299	6502	SO:0001587	stop_gained	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748552C>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.88G>T	7.37:g.19748552C>A	ENSP00000222567:p.Glu30*		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.E30*	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			1	158	-			30					A0PJ45|B7Z724	Nonsense_Mutation	SNP	ENST00000222567.5	37	c.88G>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695929	0.68386	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.07	0.26955	.	0.257680	0.31636	N	0.007320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.8129	9.31	0.37898	0.0:0.6893:0.2205:0.0901	.	.	.	.	X	30	.	ENSP00000222567:E30X	E	-	1	0	TWISTNB	19715077	0.720000	0.27996	0.579000	0.28588	0.173000	0.22820	2.198000	0.42705	1.046000	0.40249	0.655000	0.94253	GAG		0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			15	232	1	0	6.31663e-08	1	6.57865e-08	15	232					A	19748552	C	A	19748552	4	1	79	1	0	0	0	0	0	1	0	0	16838	922	32	3	944	3	TWISTNB	7	19748552	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	19748552	139390111	8193	18510											
TMEM196	256130	broad.mit.edu	37	chr7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgttcataactggctagtCgacaagtgagccaggaagag	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498																																						ENST00000405844.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(379-381)cGa>cAa		transmembrane protein 196							85	75	79					7																	19765216		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765216C>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.380G>A	7.37:g.19765216C>T	ENSP00000384234:p.Arg127Gln					TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405764.3_Missense_Mutation_p.R127Q	p.R127Q			Q5HYL7	TM196_HUMAN			3	1075	-			133					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.380G>A	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA		0.498	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		134	203	0	0	0	1	0	134	203					T	19765216	C	T	19765216	3	4	79	1	0	0	0	0	1	0	0	0	16170	884	31	1	146	1	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16664	19765216	139373447	8194	18511											
MACC1	346389	broad.mit.edu	37	chr7	20199174	20199174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgatttccaacaacggGctcacagtgcacgaaagatc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	270					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAACAACGGGCTCACAGTGC	0.478																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(808-810)agC>agT		metastasis associated in colon cancer 1							88	82	84					7																	20199174		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199174G>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.810C>T	7.37:g.20199174G>A						MACC1_ENST00000589011.1_Silent_p.S270S|MACC1_ENST00000332878.4_Silent_p.S270S	p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1118	-			270					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.810C>T	CCDS5369.1																																																																																				0.478	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		56	237	0	0	0	1	0	56	237					A	20199174	G	A	20199174	2	1	79	1	0	0	0	0	0	0	0	1	9182	1194	42	2		2	MACC1	7	20199174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433958	20199174	138939489	8195	18512											
ITGB8	3696	broad.mit.edu	37	chr7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagttcatcctctgaagAaatatcctgtggatctttat	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	144					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(430-432)Aaa>Gaa		integrin, beta 8							70	81	77					7																	20418715		2193	4298	6491	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418715A>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.430A>G	7.37:g.20418715A>G	ENSP00000222573:p.Lys144Glu					ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	p.K144E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1114	+			144					A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.430A>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785427	0.49997	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.91996	-2.95;-2.95	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	D	0.000011	D	0.85423	0.5693	N	0.17082	0.46	0.36197	D	0.850466	B;B	0.27286	0.034;0.174	B;B	0.29942	0.068;0.109	D	0.83988	0.0336	10	0.41790	T	0.15	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	E	9;144	ENSP00000441561:K9E;ENSP00000222573:K144E	ENSP00000222573:K144E	K	+	1	0	ITGB8	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA		0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		80	304	0	0	0	1	0	80	304					G	20418715	A	G	20418715	3	3	79	1	0	0	0	0	1	0	0	0	7931	247	9	4	444	4	ITGB8	7	20418715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	219541	20418715	138719948	8196	18513											
ITGB8	3696	broad.mit.edu	37	chr7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcaatgcacaataatataGaaaaattaaattccgttgga	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	164	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATAATATAGAAAAATTAAA	0.343																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(490-492)Gaa>Aaa		integrin, beta 8							75	82	80					7																	20418775		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418775G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.490G>A	7.37:g.20418775G>A	ENSP00000222573:p.Glu164Lys					ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	p.E164K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1174	+			164			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.490G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924418	0.73213	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.071807	0.64402	D	0.000019	D	0.97851	0.9294	L	0.45698	1.435	0.38694	D	0.952837	D;D	0.63046	0.992;0.984	P;P	0.60886	0.88;0.761	D	0.98122	1.0426	10	0.37606	T	0.19	-27.1312	20.0956	0.97842	0.0:0.0:1.0:0.0	.	164;164	P26012;Q9BUG9	ITB8_HUMAN;.	K	29;164	ENSP00000441561:E29K;ENSP00000222573:E164K	ENSP00000222573:E164K	E	+	1	0	ITGB8	20385300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.746000	0.94184	0.650000	0.86243	GAA		0.343	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		49	250	0	0	0	1	0	49	250					A	20418775	G	A	20418775	3	1	79	1	0	0	0	0	1	0	0	0	7931	943	33	2	504	2	ITGB8	7	20418775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	20418775	138719888	8197	18514											
ITGB8	3696	broad.mit.edu	37	chr7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaagcagttcatagAcagaagatctctggaaacat	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	243	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTTCATAGACAGAAGATCT	0.443																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(727-729)agA>agC		integrin, beta 8							137	124	128					7																	20420382		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420382A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.729A>C	7.37:g.20420382A>C	ENSP00000222573:p.Arg243Ser					ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	p.R243S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			5	1413	+			243			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.729A>C	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667596	0.47677	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97620	-4.46;-4.46	6.07	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.069216	0.64402	D	0.000010	D	0.92698	0.7679	L	0.28608	0.87	0.38344	D	0.944144	B;B	0.09022	0.001;0.002	B;B	0.12156	0.006;0.007	D	0.88415	0.3024	10	0.62326	D	0.03	.	5.2764	0.15651	0.7337:0.0:0.1326:0.1337	.	243;243	P26012;Q9BUG9	ITB8_HUMAN;.	S	108;243	ENSP00000441561:R108S;ENSP00000222573:R243S	ENSP00000222573:R243S	R	+	3	2	ITGB8	20386907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.664000	0.37439	1.103000	0.41568	-0.301000	0.09380	AGA		0.443	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		42	380	0	0	0	1	0	42	380					C	20420382	A	C	20420382	3	2	79	1	0	0	0	0	1	0	0	0	7931	272	10	4	747	4	ITGB8	7	20420382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1607	20420382	138718281	8198	18515											
ABCB5	340273	broad.mit.edu	37	chr7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaagaggattcgaaaacaGttttttcattcagttttggc	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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						TTCGAAAACAGTTTTTTCATT	0.408																																						ENST00000404938.2																			0				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						c.(424-426)caG>caT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							97	85	89					7																	20682918		1568	3582	5150	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.chr7:20682918G>T	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.426G>T	7.37:g.20682918G>T	ENSP00000384881:p.Gln142His						p.Q142H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1078	+			326			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.426G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291353	0.05568	.	.	ENSG00000004846	ENST00000404938	D	0.90004	-2.6	3.75	2.67	0.31697	.	.	.	.	.	T	0.73001	0.3531	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.59904	-0.7366	9	0.14252	T	0.57	.	3.2368	0.06767	0.174:0.0:0.5888:0.2372	.	142	A7BKA4	.	H	142	ENSP00000384881:Q142H	ENSP00000384881:Q142H	Q	+	3	2	ABCB5	20649443	0.173000	0.23056	1.000000	0.80357	0.452000	0.32318	0.437000	0.21543	0.917000	0.36895	0.563000	0.77884	CAG		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		33	157	1	0	9.04072e-19	1	1.00536e-18	33	157					T	20682918	G	T	20682918	3	4	79	1	0	0	0	0	1	0	0	0	44	1020	36	3	444	3	ABCB5	7	20682918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262536	20682918	138455745	8199	18516											
ABCB5	340273	broad.mit.edu	37	chr7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttttcattcagttttggCacaggacatcggctggtttg	11	7	2	0	rs372132207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	149	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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						TCAGTTTTGGCACAGGACATC	0.408																																						ENST00000404938.2																			0				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						c.(445-447)gCa>gAa		ATP-binding cassette, sub-family B (MDR/TAP), member 5							92	84	86					7																	20682938		1568	3582	5150	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.chr7:20682938C>A	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.446C>A	7.37:g.20682938C>A	ENSP00000384881:p.Ala149Glu						p.A149E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1098	+			333			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.446C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441668	0.25900	.	.	ENSG00000004846	ENST00000404938	D	0.88509	-2.39	3.75	3.75	0.43078	.	.	.	.	.	D	0.85217	0.5646	L	0.43152	1.355	0.80722	D	1	P	0.36171	0.541	B	0.36608	0.229	D	0.87183	0.2229	9	0.87932	D	0	.	13.867	0.63594	0.0:1.0:0.0:0.0	.	149	A7BKA4	.	E	149	ENSP00000384881:A149E	ENSP00000384881:A149E	A	+	2	0	ABCB5	20649463	0.898000	0.30612	0.873000	0.34254	0.154000	0.21943	1.722000	0.38042	2.398000	0.81561	0.563000	0.77884	GCA		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		32	191	1	0	1.30988e-24	1	1.49899e-24	32	191					A	20682938	C	A	20682938	3	1	79	1	0	0	0	0	1	0	0	0	44	710	25	3	464	3	ABCB5	7	20682938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	20682938	138455725	8200	18517											
ABCB5	340273	broad.mit.edu	37	chr7	20683249	20683249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcttcagcggcagcatgTtctagggtaagtgagatggc	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	224	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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						CGGCAGCATGTTCTAGGGTAA	0.443																																						ENST00000404938.2																			0				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						c.(670-672)tgT>tgC		ATP-binding cassette, sub-family B (MDR/TAP), member 5							82	70	74					7																	20683249		1568	3582	5150	SO:0001819	synonymous_variant	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.chr7:20683249T>C	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.672T>C	7.37:g.20683249T>C							p.C224C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			7	1324	+			410		K -> R (in dbSNP:rs13222448).			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.672T>C	CCDS55090.1																																																																																				0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		19	183	0	0	0	1	0	19	183					C	20683249	T	C	20683249	2	2	79	1	0	0	0	0	0	0	0	1	44	1731	60	4		4	ABCB5	7	20683249	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	311	20683249	138455414	8201	18518											
ABCB5	340273	broad.mit.edu	37	chr7	20706381	20706382	+	Intron	INS	-	-	A													ttcaatattgtattttctagINSaaaaaataatacaacaaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20706381_20706382insA	ENST00000404938.2	+	14	2359				ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000406935.1_Splice_Site	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						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)			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						GTATTTTCTAGAAAAAATAATA	0.327																																						ENST00000406935.1																			0				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						c.e6-1		ATP-binding cassette, sub-family B (MDR/TAP), member 5																																				SO:0001627	intron_variant	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.chr7:20706381_20706382insA	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.1707+8082->A	7.37:g.20706387_20706387dupA						ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron		NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN			6	918_919	+								A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	INS	ENST00000404938.2	37		CCDS55090.1																																																																																				0.327	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		12	92						12	92	---	---	---	---	A	20706382	-	A	20706381	6	5	79	0	1	1	1	0	0	0	0	0	44	956	33	0		0	ABCB5	7	20706381	Intron	INS	-	TCGA-IB-7651-01A-11D-2154-08	23132	20706381	138432282	8202	18519											
ABCB5	340273	broad.mit.edu	37	chr7	20793076	20793076	+	Frame_Shift_Del	DEL	A	A	-													gggctcttctccaaaaacccAaaattttattgttggatgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20793076delA	ENST00000404938.2	+	27	4175	c.3523delA	c.(3523-3525)aaafs	p.K1175fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.K730fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1175	ABC transporter 2. {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)			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						CCAAAAACCCAAAATTTTATT	0.393																																						ENST00000404938.2																			0				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						c.(3523-3525)aafs		ATP-binding cassette, sub-family B (MDR/TAP), member 5							102	104	103					7																	20793076		2203	4300	6503	SO:0001589	frameshift_variant	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.chr7:20793076delA	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.3523delA	7.37:g.20793076delA	ENSP00000384881:p.Lys1175fs					ABCB5_ENST00000258738.6_Frame_Shift_Del_p.K730fs	p.K1175fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			27	4175	+			730					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	c.3523delA	CCDS55090.1																																																																																				0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		8	400						8	400	---	---	---	---	-	20793076	A	-	20793076	7	5	79	1	0	1	0	1	0	0	0	0	44	131	5	0	3666	0	ABCB5	7	20793076	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	86695	20793076	138345587	8203	18520											
ABCB5	340273	broad.mit.edu	37	chr7	20795190	20795190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaactcatcaagaGctcctgagaaatcgagacat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1239	ABC transporter 2. {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)			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						CTCATCAAGAGCTCCTGAGAA	0.413																																						ENST00000404938.2																			0				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						c.(3715-3717)gaG>gaA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							103	97	99					7																	20795190		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:20795190G>A	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.3717G>A	7.37:g.20795190G>A						ABCB5_ENST00000258738.6_Silent_p.E794E	p.E1239E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			28	4369	+			794					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.3717G>A	CCDS55090.1																																																																																				0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		51	213	0	0	0	1	0	51	213					A	20795190	G	A	20795190	2	1	79	1	0	0	0	0	0	0	0	1	44	962	34	2		2	ABCB5	7	20795190	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2114	20795190	138343473	8204	18521											
SP4	6671	broad.mit.edu	37	chr7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatattgaaggatgtgGtaaagtttatggcaaaacat	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	655					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1963-1965)gGt>gAt		Sp4 transcription factor							147	144	145					7																	21521598		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521598G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1964G>A	7.37:g.21521598G>A	ENSP00000222584:p.Gly655Asp						p.G655D	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2182	+			655					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1964G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316989	0.95682	.	.	ENSG00000105866	ENST00000222584	T	0.49139	0.79	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	T	0.73707	-0.3898	10	0.72032	D	0.01	.	19.3343	0.94309	0.0:0.0:1.0:0.0	.	655	Q02446	SP4_HUMAN	D	655	ENSP00000222584:G655D	ENSP00000222584:G655D	G	+	2	0	SP4	21488123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	GGT		0.373	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		95	475	0	0	0	1	0	95	475					A	21521598	G	A	21521598	3	1	79	1	0	0	0	0	1	0	0	0	15016	1261	44	2	1982	2	SP4	7	21521598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726408	21521598	137617065	8205	18522											
DNAH11	8701	broad.mit.edu	37	chr7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagtacattggaaatcttGaccttcttgtgcaagggtat	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000409508.3	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	764	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAAATCTTGACCTTCTTGT	0.383									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2290-2292)Gac>Aac		dynein, axonemal, heavy chain 11							34	35	34					7																	21630818		1829	4081	5910	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21630818G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2290G>A	7.37:g.21630818G>A	ENSP00000475939:p.Asp764Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.D764N	p.D764N			Q96DT5	DYH11_HUMAN			14	2321	+			764			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2290G>A		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000105877	ENST00000328843	T	0.54479	0.57	5.57	5.57	0.84162	Dynein heavy chain, domain-1 (1);	0.949886	0.08876	N	0.880782	T	0.43144	0.1234	.	.	.	0.25084	N	0.990906	B	0.10296	0.003	B	0.08055	0.003	T	0.19386	-1.0307	9	0.19147	T	0.46	.	18.3291	0.90262	0.0:0.0:1.0:0.0	.	764	Q96DT5	DYH11_HUMAN	N	764	ENSP00000330671:D764N	ENSP00000330671:D764N	D	+	1	0	DNAH11	21597343	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	4.301000	0.59086	2.618000	0.88619	0.561000	0.74099	GAC		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		34	177	0	0	0	1	0	34	177					A	21630818	G	A	21630818	3	1	79	1	0	0	0	0	1	0	0	0	4615	1290	45	2	2344	2	DNAH11	7	21630818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109220	21630818	137507845	8206	18523											
DNAH11	8701	broad.mit.edu	37	chr7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggccatgctgtgtcttccGatgaaatggatgctcatgca	11	9	2	1	rs371880343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000409508.3	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1062	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGTCTTCCGATGAAATGGA	0.433									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3184-3186)Gat>Aat		dynein, axonemal, heavy chain 11							148	140	143					7																	21640477		1923	4140	6063	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640477G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3184G>A	7.37:g.21640477G>A	ENSP00000475939:p.Asp1062Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.D1062N	p.D1062N			Q96DT5	DYH11_HUMAN			16	3215	+			1062			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3184G>A		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212545	0.39102	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.43	5.43	0.79202	.	0.116822	0.56097	D	0.000036	T	0.17408	0.0418	.	.	.	0.49130	D	0.99975	P	0.36483	0.555	B	0.27500	0.08	T	0.02546	-1.1143	9	0.37606	T	0.19	.	18.013	0.89230	0.0:0.0:1.0:0.0	.	1062	Q96DT5	DYH11_HUMAN	N	1062	ENSP00000330671:D1062N	ENSP00000330671:D1062N	D	+	1	0	DNAH11	21607002	1.000000	0.71417	0.929000	0.37066	0.038000	0.13279	3.454000	0.52986	2.563000	0.86464	0.563000	0.77884	GAT		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		133	537	0	0	0	1	0	133	537					A	21640477	G	A	21640477	3	1	79	1	0	0	0	0	1	0	0	0	4615	1058	37	1	3246	1	DNAH11	7	21640477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9659	21640477	137498186	8207	18524											
DNAH11	8701	broad.mit.edu	37	chr7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttacgaagttcactatCgaacaggcattccattacta	5	10	2	0	rs72657321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000409508.3	+	25	4469	c.4438C>T	c.(4438-4440)Cga>Tga	p.R1480*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1485	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTTCACTATCGAACAGGCAT	0.308									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4453-4455)Cga>Tga		dynein, axonemal, heavy chain 11							84	79	80					7																	21659634		1812	4073	5885	SO:0001587	stop_gained	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21659634C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4438C>T	7.37:g.21659634C>T	ENSP00000475939:p.Arg1480*					DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1480*	p.R1485*			Q96DT5	DYH11_HUMAN			25	4484	+			1485			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4453C>T		.	.	.	.	.	.	.	.	.	.	C	45	11.304859	0.99544	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	3.49	0.39957	.	0.552784	0.17274	N	0.180253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9568	0.41671	0.4061:0.4847:0.1092:0.0	.	.	.	.	X	1485	.	ENSP00000330671:R1485X	R	+	1	2	DNAH11	21626159	0.089000	0.21612	1.000000	0.80357	0.935000	0.57460	0.459000	0.21908	1.231000	0.43661	0.563000	0.77884	CGA		0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		42	204	0	0	0	1	0	42	204					T	21659634	C	T	21659634	4	4	79	1	0	0	0	0	0	1	0	0	4615	876	31	1	4551	1	DNAH11	7	21659634	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19157	21659634	137479029	8208	18525											
DNAH11	8701	broad.mit.edu	37	chr7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgaaaaagctctcGctgaatacctggaaaccaag	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000409508.3	+	28	4874	c.4843G>A	c.(4843-4845)Gct>Act	p.A1615T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4858-4860)Gct>Act		dynein, axonemal, heavy chain 11							163	160	161					7																	21678582		1861	4093	5954	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21678582G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4843G>A	7.37:g.21678582G>A	ENSP00000475939:p.Ala1615Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.A1615T	p.A1620T			Q96DT5	DYH11_HUMAN			28	4889	+			1620			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4858G>A		.	.	.	.	.	.	.	.	.	.	G	6.183	0.401934	0.11696	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.29093	0.0723	.	.	.	0.24518	N	0.994179	B	0.17038	0.02	B	0.19946	0.027	T	0.24977	-1.0145	9	0.08837	T	0.75	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	T	1620	ENSP00000330671:A1620T	ENSP00000330671:A1620T	A	+	1	0	DNAH11	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		81	382	0	0	0	1	0	81	382					A	21678582	G	A	21678582	3	1	79	1	0	0	0	0	1	0	0	0	4615	1087	38	1	4968	1	DNAH11	7	21678582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18948	21678582	137460081	8209	18526											
DNAH11	8701	broad.mit.edu	37	chr7	21805045	21805045	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcccccatgtctccacaGatcattttgtgtttctctcc	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000409508.3	+	55	8971		c.e55-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCTCCACAGATCATTTTGT	0.483									Kartagener syndrome																													ENST00000328843.6																			1	Unknown(1)	p.?(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e56-1		dynein, axonemal, heavy chain 11							168	162	164					7																	21805045		2022	4203	6225	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21805045G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8941-1G>A	7.37:g.21805045G>A						DNAH11_ENST00000409508.3_Splice_Site				Q96DT5	DYH11_HUMAN			56	8992	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	G	28.3	4.911606	0.92178	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	43	558	0	0	0	1	0	43	558					A	21805045	G	A	21805045	5	1	79	1	0	0	0	0	0	0	1	0	4615	956	33	2	9180	2	DNAH11	7	21805045	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126463	21805045	137333618	8210	18527											
RAPGEF5	9771	broad.mit.edu	37	chr7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccttaccaaagtgtccGccaggtctttccggtagaca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000401957.2	-	8	1212	c.965C>T	c.(964-966)gCg>gTg	p.A322V	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	322					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468																																						ENST00000344041.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(1414-1416)gCg>gTg		Rap guanine nucleotide exchange factor (GEF) 5							113	112	112					7																	22190035		1865	4105	5970	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22190035G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.965C>T	7.37:g.22190035G>A	ENSP00000384044:p.Ala322Val					RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A322V	p.A472V	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			18	1727	-			322			Ras-GEF.		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.1415C>T		.	.	.	.	.	.	.	.	.	.	G	10.58	1.389773	0.25118	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.48836	1.29;0.8	5.86	5.86	0.93980	Ras guanine nucleotide exchange factor, domain (1);	0.259043	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.31107	N	0.710363	B;P	0.38048	0.001;0.616	B;B	0.24974	0.002;0.057	T	0.11767	-1.0574	10	0.14252	T	0.57	.	17.7179	0.88343	0.0:0.0:1.0:0.0	.	322;472	Q92565;A8MQ07	RPGF5_HUMAN;.	V	472;324;322	ENSP00000343656:A472V;ENSP00000384044:A322V	ENSP00000343656:A472V	A	-	2	0	RAPGEF5	22156560	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.972000	0.49256	2.937000	0.99478	0.650000	0.86243	GCG		0.468	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		74	351	0	0	0	1	0	74	351					A	22190035	G	A	22190035	3	1	79	1	0	0	0	0	1	0	0	0	13097	1087	38	1	813	1	RAPGEF5	7	22190035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384990	22190035	136948628	8211	18528											
RAPGEF5	9771	broad.mit.edu	37	chr7	22206738	22206738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcatgaagacagtgtaCgtgagaaggaagtcatccag	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000401957.2	-	2	571	c.324G>A	c.(322-324)acG>acA	p.T108T	RAPGEF5_ENST00000344041.6_Silent_p.T258T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	108	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453																																						ENST00000344041.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(772-774)acG>acA		Rap guanine nucleotide exchange factor (GEF) 5							85	83	84					7																	22206738		1941	4155	6096	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22206738C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.324G>A	7.37:g.22206738C>T						RAPGEF5_ENST00000401957.2_Silent_p.T108T	p.T258T	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			12	1086	-			108					A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.774G>A																																																																																					0.453	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		15	90	0	0	0	1	0	15	90					T	22206738	C	T	22206738	2	4	79	1	0	0	0	0	0	0	0	1	13097	523	19	1		1	RAPGEF5	7	22206738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	22206738	136931925	8212	18529											
IL6	3569	broad.mit.edu	37	chr7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgccccacacagacagcCactcacctcttcagaacgaa	6	18	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q			P05231	IL6_HUMAN	interleukin 6	46					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CACAGACAGCCACTCACCTCT	0.572																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(136-138)cCa>cAa		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						106	102	103					7																	22767180		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767180C>A	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.137C>A	7.37:g.22767180C>A	ENSP00000385675:p.Pro46Gln					AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000407492.1_Intron|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q	p.P46Q			P05231	IL6_HUMAN			3	596	+			46					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.137C>A	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752806	0.31046	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;0.82;1.81;-0.81	5.2	-4.27	0.03744	Four-helical cytokine, core (1);	2.471950	0.01105	N	0.005476	T	0.56171	0.1967	N	0.12961	0.28	0.09310	N	1	B;B;B	0.27882	0.192;0.177;0.025	B;B;B	0.29267	0.1;0.053;0.012	T	0.47548	-0.9109	10	0.51188	T	0.08	11.6934	4.7642	0.13123	0.2457:0.2693:0.0:0.485	.	100;46;46	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	46;46;46;100;23;46	ENSP00000385675:P46Q;ENSP00000405150:P46Q;ENSP00000258743:P46Q;ENSP00000405994:P100Q;ENSP00000384928:P23Q;ENSP00000385227:P46Q	ENSP00000258743:P46Q	P	+	2	0	IL6	22733705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.985000	0.03751	-1.066000	0.03164	-0.263000	0.10527	CCA		0.572	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		79	396	1	0	6.14238e-36	1	7.34322e-36	79	396					A	22767180	C	A	22767180	3	1	79	1	0	0	0	0	1	0	0	0	7731	594	21	3	143	3	IL6	7	22767180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	560442	22767180	136371483	8213	18530											
FAM126A	84668	broad.mit.edu	37	chr7	22985591	22985592	+	Frame_Shift_Ins	INS	-	-	T													caagattcccctgtagtttcINStttttcttttcctccagttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22985591_22985592insT	ENST00000432176.2	-	11	1414_1415	c.1182_1183insA	c.(1180-1185)aaagaafs	p.E395fs	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'Flank	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	395					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTGTAGTTTCTTTTTCTTTTC	0.406																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1180-1185)aaaaacfs		family with sequence similarity 126, member A																																				SO:0001589	frameshift_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985591_22985592insT	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1183dupA	7.37:g.22985596_22985596dupT	ENSP00000403396:p.Glu395fs					FAM126A_ENST00000409923.1_3'UTR	p.N395fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1414_1415	-			395					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Frame_Shift_Ins	INS	ENST00000432176.2	37	c.1182_1183insA	CCDS5377.1																																																																																				0.406	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		173	822						173	822	---	---	---	---	T	22985592	-	T	22985591	7	5	79	1	0	1	1	0	0	0	0	0	5450	922	32	0	386	0	FAM126A	7	22985591	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	218411	22985591	136153072	8214	18531											
NUPL2	11097	broad.mit.edu	37	chr7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccgttttcagctaaattCtgtccaacgtttaataaatc	4	10	2	0	rs535306272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(529-531)tCt>tAt		nucleoporin like 2							82	83	83					7																	23236306		2203	4297	6500	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23236306C>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.530C>A	7.37:g.23236306C>A	ENSP00000258742:p.Ser177Tyr						p.S177Y	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			5	789	+			177					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.530C>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253795	0.59212	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	4.75	0.60458	.	0.229608	0.45361	D	0.000362	T	0.58293	0.2112	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.55140	-0.8187	10	0.39692	T	0.17	-17.8451	12.7138	0.57103	0.0:0.9202:0.0:0.0798	.	177	O15504	NUPL2_HUMAN	Y	177	ENSP00000258742:S177Y;ENSP00000401475:S177Y	ENSP00000258742:S177Y	S	+	2	0	NUPL2	23202831	0.931000	0.31567	0.957000	0.39632	0.492000	0.33523	1.810000	0.38932	2.641000	0.89580	0.591000	0.81541	TCT		0.308	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		49	196	1	0	5.57489e-27	1	6.44243e-27	49	196					A	23236306	C	A	23236306	3	1	79	1	0	0	0	0	1	0	0	0	10817	913	32	3	548	3	NUPL2	7	23236306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250715	23236306	135902357	8215	18532											
GPNMB	10457	broad.mit.edu	37	chr7	23300346	23300346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccaggaccttgtccGccaccgccaccaccacccag	8	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23300346G>A	ENST00000381990.2	+	6	1133	c.972G>A	c.(970-972)ccG>ccA	p.P324P	GPNMB_ENST00000258733.4_Silent_p.P324P|GPNMB_ENST00000453162.2_Silent_p.P266P|GPNMB_ENST00000539136.1_Silent_p.P225P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	324	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.		P -> L (in dbSNP:rs35363287).		bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GACCTTGTCCGCCACCGCCAC	0.483																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(970-972)ccG>ccA		glycoprotein (transmembrane) nmb							121	129	126					7																	23300346		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23300346G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.972G>A	7.37:g.23300346G>A						GPNMB_ENST00000381990.2_Silent_p.P324P|GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000453162.2_Silent_p.P266P	p.P324P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		6	1267	+			324		P -> L (in dbSNP:rs35363287).	PKD.|Poly-Pro.		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.972G>A	CCDS34610.1																																																																																				0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		15	754	0	0	0	1	0	15	754					A	23300346	G	A	23300346	2	1	79	1	0	0	0	0	0	0	0	1	6649	1074	38	1		1	GPNMB	7	23300346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64040	23300346	135838317	8216	18533											
C7orf30	115416	broad.mit.edu	37	chr7	23349053	23349053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatggaccctacgttcttAtgatgaccagttagctcaga	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23349053A>G	ENST00000466681.1	+	4	749	c.596A>G	c.(595-597)tAt>tGt	p.Y199C		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CTACGTTCTTATGATGACCAG	0.403																																						ENST00000466681.1																			0											c.(595-597)tAt>tGt		mitochondrial assembly of ribosomal large subunit 1							140	131	134					7																	23349053		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23349053A>G	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.596A>G	7.37:g.23349053A>G	ENSP00000419370:p.Tyr199Cys						p.Y199C	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN			4	749	+			199					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.596A>G	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785426	0.49997	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	3.15	0.36227	.	0.098520	0.44285	D	0.000463	T	0.37320	0.0999	L	0.38838	1.175	0.38041	D	0.935454	B	0.30021	0.265	B	0.24394	0.053	T	0.33650	-0.9860	9	0.49607	T	0.09	-19.7612	7.5319	0.27687	0.8005:0.0:0.0702:0.1293	.	199	Q96EH3	CG030_HUMAN	C	199	.	ENSP00000419370:Y199C	Y	+	2	0	C7orf30	23315578	0.953000	0.32496	0.973000	0.42090	0.977000	0.68977	2.656000	0.46716	0.916000	0.36871	0.482000	0.46254	TAT		0.403	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		87	390	0	0	0	1	0	87	390					G	23349053	A	G	23349053	3	3	79	1	0	0	0	0	1	0	0	0	2393	449	16	4	610	4	C7orf30	7	23349053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48707	23349053	135789610	8217	18534											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391009	23391009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgggtgggaaccagcaGgcgcagaggcaaatcacatg	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	200	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(598-600)Ctg>Ttg		insulin-like growth factor 2 mRNA binding protein 3							101	92	95					7																	23391009		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391009G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.598C>T	7.37:g.23391009G>A						IGF2BP3_ENST00000491719.1_5'UTR	p.L200L	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	954	-			200			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.598C>T	CCDS5382.1																																																																																				0.567	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		63	294	0	0	0	1	0	63	294					A	23391009	G	A	23391009	2	1	79	1	0	0	0	0	0	0	0	1	7605	991	35	2		2	IGF2BP3	7	23391009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41956	23391009	135747654	8218	18535											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391064	23391064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatcctggagacccctgCcttgaggagcccctctgccc	11	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(541-543)agG>agA		insulin-like growth factor 2 mRNA binding protein 3							55	54	54					7																	23391064		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391064C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.543G>A	7.37:g.23391064C>T						IGF2BP3_ENST00000491719.1_5'UTR	p.R181R	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	899	-			181					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.543G>A	CCDS5382.1																																																																																				0.572	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		50	238	0	0	0	1	0	50	238					T	23391064	C	T	23391064	2	4	79	1	0	0	0	0	0	0	0	1	7605	738	26	2		2	IGF2BP3	7	23391064	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	23391064	135747599	8219	18536											
TRA2A	29896	broad.mit.edu	37	chr7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatggcttcggctccttcGccgccggtattctggtgtat	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	94	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(280-282)Cga>Tga		transformer 2 alpha homolog (Drosophila)							83	71	75					7																	23556038		2203	4300	6503	SO:0001587	stop_gained	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556038G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.280C>T	7.37:g.23556038G>A	ENSP00000297071:p.Arg94*					TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	p.R94*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	496	-			94			Arg/Ser-rich (RS1 domain).		B4DUA9	Nonsense_Mutation	SNP	ENST00000297071.4	37	c.280C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468558	0.96274	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	4.0	0.46444	.	0.058669	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.982	15.5939	0.76562	0.0:0.0:0.7503:0.2497	.	.	.	.	X	94	.	ENSP00000297071:R94X	R	-	1	2	TRA2A	23522563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	1.484000	0.48361	0.460000	0.39030	CGA		0.443	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		67	215	0	0	0	1	0	67	215					A	23556038	G	A	23556038	4	1	79	1	0	0	0	0	0	1	0	0	16486	1095	38	1	592	1	TRA2A	7	23556038	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164974	23556038	135582625	8220	18537											
CCDC126	90693	broad.mit.edu	37	chr7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaaatgttttttacaAtctcaagaaaaaatatgtcc	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000307471.3	+	3	470	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	5					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318																																						ENST00000307471.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(13-15)Atc>Ttc		coiled-coil domain containing 126							73	75	75					7																	23650947		2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23650947A>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.13A>T	7.37:g.23650947A>T	ENSP00000304355:p.Ile5Phe					CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F	p.I5F	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN			3	470	+			5					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.13A>T	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028699	0.19512	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	2.92	0.33932	.	0.112631	0.64402	D	0.000009	T	0.15219	0.0367	N	0.02315	-0.6	0.37480	D	0.915954	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.02654	T	1	-17.6699	5.3688	0.16129	0.4772:0.118:0.0:0.4048	.	5	Q96EE4	CC126_HUMAN	F	5	.	ENSP00000304355:I5F	I	+	1	0	CCDC126	23617472	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.417000	0.44653	2.150000	0.67090	0.455000	0.32223	ATC		0.318	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		60	270	0	0	0	1	0	60	270					T	23650947	A	T	23650947	3	4	79	1	0	0	0	0	1	0	0	0	2769	101	4	5	15	5	CCDC126	7	23650947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94909	23650947	135487716	8221	18538											
STK31	56164	broad.mit.edu	37	chr7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagggtcactcttctagaGcttccgcaacggaaagtgtg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000428484.1_5'Flank|STK31_ENST00000433467.2_Missense_Mutation_p.A10S|STK31_ENST00000354639.3_5'Flank	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	10						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567																																						ENST00000355870.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(28-30)Gct>Tct		serine/threonine kinase 31							213	172	186					7																	23749932		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23749932G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.28G>T	7.37:g.23749932G>T	ENSP00000348132:p.Ala10Ser					STK31_ENST00000433467.2_Missense_Mutation_p.A10S	p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN			1	147	+			10					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.28G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022901	0.02061	.	.	ENSG00000196335	ENST00000355870;ENST00000433467	T;T	0.67698	-0.28;1.44	3.92	-0.115	0.13560	.	1.139810	0.06538	N	0.742708	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.043;0.075	B;B	0.19946	0.018;0.027	T	0.34502	-0.9826	10	0.51188	T	0.08	0.3504	6.2791	0.20997	0.5233:0.0:0.4767:0.0	.	10;10	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	10	ENSP00000348132:A10S;ENSP00000411852:A10S	ENSP00000348132:A10S	A	+	1	0	STK31	23716457	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.020000	0.12525	-0.036000	0.13669	-0.266000	0.10368	GCT		0.567	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		73	283	1	0	1.356e-25	1	1.55723e-25	73	283					T	23749932	G	T	23749932	3	4	79	1	0	0	0	0	1	0	0	0	15348	971	34	3	30	3	STK31	7	23749932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98985	23749932	135388731	8222	18539											
STK31	56164	broad.mit.edu	37	chr7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgagtatggcagtgtgGatataggggaagaggtgctt	18	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000355870.3	+	7	711	c.592G>A	c.(592-594)Gat>Aat	p.D198N	STK31_ENST00000428484.1_Missense_Mutation_p.D175N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000354639.3_Missense_Mutation_p.D175N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	198						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(523-525)Gat>Aat		serine/threonine kinase 31							135	126	129					7																	23775265		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775265G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.592G>A	7.37:g.23775265G>A	ENSP00000348132:p.Asp198Asn					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000355870.3_Missense_Mutation_p.D198N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N	p.D175N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	987	+			198					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.523G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449376	0.84101	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.34521	1.04	0.43255	D	0.99518	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32322	-0.9911	10	0.72032	D	0.01	-19.5725	12.3752	0.55275	0.0841:0.0:0.9159:0.0	.	198;198	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	198;198;175;175	ENSP00000348132:D198N;ENSP00000411852:D198N;ENSP00000346660:D175N;ENSP00000406146:D175N	ENSP00000346660:D175N	D	+	1	0	STK31	23741790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.557000	0.86248	0.467000	0.42956	GAT		0.398	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		114	480	0	0	0	1	0	114	480					A	23775265	G	A	23775265	3	1	79	1	0	0	0	0	1	0	0	0	15348	1174	41	2	618	2	STK31	7	23775265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25333	23775265	135363398	8223	18540											
STK31	56164	broad.mit.edu	37	chr7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatggaaatactgaaagAaatgaggtaggtaaaagcat	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000355870.3	+	9	1246	c.1127A>C	c.(1126-1128)gAa>gCa	p.E376A	STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000354639.3_Missense_Mutation_p.E353A	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	376						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1057-1059)gAa>gCa		serine/threonine kinase 31							61	62	62					7																	23792445		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792445A>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1127A>C	7.37:g.23792445A>C	ENSP00000348132:p.Glu376Ala					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000355870.3_Missense_Mutation_p.E376A|STK31_ENST00000428484.1_Missense_Mutation_p.E353A	p.E353A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1522	+			376					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1058A>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375457	0.42105	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	3.78	0.43462	.	0.293334	0.33199	N	0.005178	T	0.18173	0.0436	M	0.64997	1.995	0.34460	D	0.701686	P;D	0.56521	0.954;0.976	B;P	0.47206	0.437;0.541	T	0.28650	-1.0037	10	0.72032	D	0.01	-14.8871	7.4108	0.27016	0.8993:0.0:0.1007:0.0	.	376;376	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	376;376;353;353	ENSP00000348132:E376A;ENSP00000411852:E376A;ENSP00000346660:E353A;ENSP00000406146:E353A	ENSP00000346660:E353A	E	+	2	0	STK31	23758970	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.206000	0.32321	0.844000	0.35094	0.482000	0.46254	GAA		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		39	177	0	0	0	1	0	39	177					C	23792445	A	C	23792445	3	2	79	1	0	0	0	0	1	0	0	0	15348	246	9	4	1161	4	STK31	7	23792445	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17180	23792445	135346218	8224	18541											
NPY	4852	broad.mit.edu	37	chr7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggccagatactactcgGcgctgcgacactacatcaac	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y	51					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(151-153)Gcg>Acg		neuropeptide Y							76	56	63					7																	24325010		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24325010G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.151G>A	7.37:g.24325010G>A	ENSP00000384364:p.Ala51Thr					NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T	p.A51T			P01303	NPY_HUMAN			3	441	+			51						Missense_Mutation	SNP	ENST00000407573.1	37	c.151G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062781	0.97246	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.52983	0.64;0.64;0.64	5.86	5.86	0.93980	Pancreatic hormone-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74575	-0.3620	9	0.72032	D	0.01	-10.8804	20.1986	0.98248	0.0:0.0:1.0:0.0	.	51	P01303	NPY_HUMAN	T	51	ENSP00000242152:A51T;ENSP00000384364:A51T;ENSP00000385282:A51T	ENSP00000242152:A51T	A	+	1	0	NPY	24291535	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GCG		0.677	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		39	182	0	0	0	1	0	39	182					A	24325010	G	A	24325010	3	1	79	1	0	0	0	0	1	0	0	0	10649	1203	42	2	153	2	NPY	7	24325010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532565	24325010	134813653	8225	18542											
NPY	4852	broad.mit.edu	37	chr7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcccagagacactgaTttcagacctcttgatgagag	9	11	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(220-222)aTt>aGt		neuropeptide Y							123	115	118					7																	24329150		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329150T>G	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>G	7.37:g.24329150T>G	ENSP00000384364:p.Ile74Ser					NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S	p.I74S			P01303	NPY_HUMAN			4	511	+			74						Missense_Mutation	SNP	ENST00000407573.1	37	c.221T>G	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508110	0.64410	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13420	2.59;2.59;2.59	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.13200	0.0320	.	.	.	0.54753	D	0.999986	P	0.36683	0.565	B	0.27608	0.081	T	0.01904	-1.1250	9	0.87932	D	0	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	S	74	ENSP00000242152:I74S;ENSP00000384364:I74S;ENSP00000385282:I74S	ENSP00000242152:I74S	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT		0.418	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		75	315	0	0	0	1	0	75	315					G	24329150	T	G	24329150	3	3	79	1	0	0	0	0	1	0	0	0	10649	1493	52	4	227	4	NPY	7	24329150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4140	24329150	134809513	8226	18543											
MPP6	51678	broad.mit.edu	37	chr7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggaattatggagaatcCtattgtaaaatcacttgcta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000396475.2_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0	Poly-Glu.				maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(94-96)cCt>cAt		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							61	66	64					7																	24663381		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24663381C>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.95C>A	7.37:g.24663381C>A	ENSP00000222644:p.Pro32His					MPP6_ENST00000222644.4_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron	p.P32H	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			3	394	+			32			L27 1.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.95C>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.745140	0.89663	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.15603	2.41;3.47;3.47;2.44	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000060	T	0.47377	0.1442	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.46148	-0.9212	10	0.62326	D	0.03	.	19.7166	0.96122	0.0:1.0:0.0:0.0	.	32	Q9NZW5	MPP6_HUMAN	H	32	ENSP00000395859:P32H;ENSP00000222644:P32H;ENSP00000379737:P32H;ENSP00000391020:P32H	ENSP00000222644:P32H	P	+	2	0	MPP6	24629906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.731000	0.93534	0.637000	0.83480	CCT		0.338	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			47	236	1	0	1.38658e-30	1	1.62744e-30	47	236					A	24663381	C	A	24663381	3	1	79	1	0	0	0	0	1	0	0	0	9779	681	24	3	97	3	MPP6	7	24663381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334231	24663381	134475282	8227	18544											
DFNA5	1687	broad.mit.edu	37	chr7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttaaaacacttaatggtCcatcctgggaagatatccca	7	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000342947.3	-	6	1264	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	280					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(346-348)gGa>gAa		deafness, autosomal dominant 5							142	132	135					7																	24749866		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24749866C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.839G>A	7.37:g.24749866C>T	ENSP00000339587:p.Gly280Glu					DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000342947.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E	p.G116E			O60443	DFNA5_HUMAN			8	1497	-			280					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.347G>A	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.326027|1.326027	0.24080|0.24080	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000415480;ENST00000446822|ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.|T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04	5.21|5.21	0.259|0.259	0.15583|0.15583	.|.	.|0.852240	.|0.10510	.|N	.|0.666302	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.24701	.|0.055	T|T	0.39251|0.39251	-0.9623|-0.9623	5|10	.|0.02654	.|T	.|1	-1.1998|-1.1998	4.7256|4.7256	0.12939|0.12939	0.0:0.3958:0.2779:0.3263|0.0:0.3958:0.2779:0.3263	.|.	.|280	.|O60443	.|DFNA5_HUMAN	N|E	69;105|280;116;116;116;280	.|ENSP00000339587:G280E;ENSP00000401332:G116E;ENSP00000442661:G116E;ENSP00000387119:G116E;ENSP00000386670:G280E	.|ENSP00000339587:G280E	D|G	-|-	1|2	0|0	DFNA5|DFNA5	24716391|24716391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.163000|-0.163000	0.09997|0.09997	-0.270000|-0.270000	0.09285|0.09285	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA		0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		72	436	0	0	0	1	0	72	436					T	24749866	C	T	24749866	3	4	79	1	0	0	0	0	1	0	0	0	4470	855	30	2	671	2	DFNA5	7	24749866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86485	24749866	134388797	8228	18545											
OSBPL3	26031	broad.mit.edu	37	chr7	24874243	24874243	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttggacaggtccttcccGatgttgttcctcaggatgtt	10	11	1	0	rs371031134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000409069.1_Silent_p.I469I|OSBPL3_ENST00000352860.1_Silent_p.I505I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	536					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTCCTTCCCGATGTTGTTCC	0.622																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1606-1608)atC>atT		oxysterol binding protein-like 3		G	,,,	1,4405	2.1+/-5.4	0,1,2202	115	96	102		1608,1515,1500,1407	-11.7	0	7		102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL3	NM_015550.2,NM_145320.1,NM_145321.1,NM_145322.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	536/888,505/857,500/852,469/821	24874243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24874243G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1608C>T	7.37:g.24874243G>A						OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000409069.1_Silent_p.I469I	p.I536I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2059	-			536					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1608C>T	CCDS5390.1																																																																																				0.622	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			15	503	0	0	0	1	0	15	503					A	24874243	G	A	24874243	2	1	79	1	0	0	0	0	0	0	0	1	11321	1048	37	1		1	OSBPL3	7	24874243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124377	24874243	134264420	8229	18546											
OSBPL3	26031	broad.mit.edu	37	chr7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggcgacagcgggggagtCgaggagcagagactcggcat	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	409					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1225-1227)Gac>Aac		oxysterol binding protein-like 3							212	196	202					7																	24888729		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24888729C>T	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1225G>A	7.37:g.24888729C>T	ENSP00000315410:p.Asp409Asn					OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000409069.1_Intron	p.D409N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			12	1676	-			409					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1225G>A	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668299	0.88348	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.51325	2.04;0.71;0.71	5.69	5.69	0.88448	.	0.195094	0.53938	D	0.000045	T	0.48409	0.1498	M	0.72118	2.19	0.80722	D	1	B;P	0.34724	0.382;0.465	B;B	0.26969	0.07;0.075	T	0.53570	-0.8420	10	0.59425	D	0.04	-13.7122	18.0068	0.89212	0.0:1.0:0.0:0.0	.	378;409	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	N	409;378;378	ENSP00000315410:D409N;ENSP00000315331:D378N;ENSP00000379708:D378N	ENSP00000315410:D409N	D	-	1	0	OSBPL3	24855254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.676000	0.91093	0.655000	0.94253	GAC		0.542	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			84	589	0	0	0	1	0	84	589					T	24888729	C	T	24888729	3	4	79	1	0	0	0	0	1	0	0	0	11321	884	31	1	1486	1	OSBPL3	7	24888729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	24888729	134249934	8230	18547											
C7orf31	136895	broad.mit.edu	37	chr7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattgatttatggaaacGcttttgtgcaccagtttttg	9	5	0	2	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		18400	0.0		0.002	False		,,,				2504	0.0					ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1666-1668)Cgt>Tgt		chromosome 7 open reading frame 31		G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	119	118	119		1666	3.5	0.7	7	dbSNP_134	119	31,8569	20.4+/-63.3	0,31,4269	yes	missense	C7orf31	NM_138811.3	180	0,37,6466	AA,AG,GG		0.3605,0.1362,0.2845	probably-damaging	556/591	25175698	37,12969	2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175698G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1666C>T	7.37:g.25175698G>A	ENSP00000386604:p.Arg556Cys					C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C	p.R556C			Q8N865	CG031_HUMAN			10	1974	-			556					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1666C>T	CCDS5394.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.45	1.941501	0.34283	0.001362	0.003605	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.55	0.40652	.	0.200309	0.42682	N	0.000680	T	0.07818	0.0196	M	0.66939	2.045	0.22629	N	0.998914	P	0.34684	0.463	B	0.19666	0.026	T	0.33828	-0.9853	10	0.54805	T	0.06	-4.2669	4.6912	0.12781	0.0734:0.1319:0.5231:0.2716	.	556	Q8N865	CG031_HUMAN	C	556	ENSP00000386604:R556C;ENSP00000283905:R556C	ENSP00000283905:R556C	R	-	1	0	C7orf31	25142223	0.037000	0.19845	0.726000	0.30738	0.489000	0.33432	0.635000	0.24629	0.724000	0.32296	-0.258000	0.10820	CGT		0.413	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		111	470	0	0	0	1	0	111	470					A	25175698	G	A	25175698	3	1	79	1	0	0	0	0	1	0	0	0	2394	1087	38	1	110	1	C7orf31	7	25175698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286969	25175698	133962965	8231	18548											
C7orf31	136895	broad.mit.edu	37	chr7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagggggtccatgggccccaGaccttaatggaaacatcacc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(862-864)Ctg>Atg		chromosome 7 open reading frame 31							87	78	81					7																	25181949		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25181949G>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.862C>A	7.37:g.25181949G>T	ENSP00000386604:p.Leu288Met					C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M	p.L288M			Q8N865	CG031_HUMAN			9	1170	-			288					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.862C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687199	0.48097	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06528	3.29;3.29	5.48	1.41	0.22369	.	0.446761	0.19074	N	0.123417	T	0.05181	0.0138	L	0.38838	1.175	0.25151	N	0.990429	P	0.37955	0.612	B	0.39503	0.301	T	0.32508	-0.9904	10	0.32370	T	0.25	-37.6172	4.6255	0.12476	0.1732:0.0:0.402:0.4248	.	288	Q8N865	CG031_HUMAN	M	288	ENSP00000386604:L288M;ENSP00000283905:L288M	ENSP00000283905:L288M	L	-	1	2	C7orf31	25148474	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.773000	0.33404	0.491000	0.48974	CTG		0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		41	232	1	0	1.47197e-15	1	1.61021e-15	41	232					T	25181949	G	T	25181949	3	4	79	1	0	0	0	0	1	0	0	0	2394	933	33	3	918	3	C7orf31	7	25181949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6251	25181949	133956714	8232	18549											
NFE2L3	9603	broad.mit.edu	37	chr7	26225340	26225340	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatggaagtatcttgatAgtacccaaagaactggtggc	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	674					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(2020-2022)atA>atC		nuclear factor, erythroid 2-like 3							59	60	59					7																	26225340		2203	4296	6499	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225340A>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2022A>C	7.37:g.26225340A>C							p.I674I	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2281	+			674					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.2022A>C	CCDS5396.1																																																																																				0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			86	358	0	0	0	1	0	86	358					C	26225340	A	C	26225340	2	2	79	1	0	0	0	0	0	0	0	1	10411	410	15	4		4	NFE2L3	7	26225340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1043391	26225340	132913323	8233	18550											
CBX3	11335	broad.mit.edu	37	chr7	26251332	26251332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcctgaaagaataatTggtgccacagacagcagtgg	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	127	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348																																						ENST00000337620.4																			0				endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						c.(379-381)atT>atC		chromobox homolog 3							74	74	74					7																	26251332		2203	4298	6501	SO:0001819	synonymous_variant	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26251332T>C	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"HP1 gamma homolog (Drosophila)"	604477	"chromobox homolog 3 (Drosophila HP1 gamma)"			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.381T>C	7.37:g.26251332T>C						CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000409747.1_3'UTR	p.I127I	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN			5	809	+			127			Chromo 2; shadow subtype.		Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Silent	SNP	ENST00000337620.4	37	c.381T>C	CCDS5398.1																																																																																				0.348	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276		59	249	0	0	0	1	0	59	249					C	26251332	T	C	26251332	2	2	79	1	0	0	0	0	0	0	0	1	2726	1800	63	4		4	CBX3	7	26251332	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25992	26251332	132887331	8234	18551											
SNX10	29887	broad.mit.edu	37	chr7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagaacttccatctaaAaacctgtttttcaacatgaa	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000409838.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	79	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(235-237)aaA>aaC		sorting nexin 10							59	63	62					7																	26404691		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26404691A>C	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.237A>C	7.37:g.26404691A>C	ENSP00000343709:p.Lys79Asn		OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	786	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N	p.K79N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			5	424	+			79			PX.		E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.237A>C	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327163	0.81690	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.17	5.03	0.67393	Phox homologous domain (5);	0.137279	0.64402	D	0.000003	T	0.74898	0.3777	M	0.92459	3.31	0.39415	D	0.966823	D;D	0.63880	0.993;0.986	P;P	0.61397	0.888;0.67	T	0.82084	-0.0632	10	0.87932	D	0	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	105;79	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	N	105;79;105;79;39	ENSP00000408164:K105N;ENSP00000343709:K79N;ENSP00000395474:K105N;ENSP00000379661:K79N;ENSP00000387274:K39N	ENSP00000343709:K79N	K	+	3	2	SNX10	26371216	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.599000	0.46231	2.371000	0.80710	0.533000	0.62120	AAA		0.413	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			44	174	0	0	0	1	0	44	174					C	26404691	A	C	26404691	3	2	79	1	0	0	0	0	1	0	0	0	14931	11	1	4	251	4	SNX10	7	26404691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	153359	26404691	132733972	8235	18552											
HOXA1	3198	broad.mit.edu	37	chr7	27135377	27135377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctgcccactaggaagCggtcgtcgccgccgcaactg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135377C>T	ENST00000343060.4	-	1	216	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	52					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTAGGAAGCGGTCGTCGCC	0.662											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(154-156)cGc>cAc		homeobox A1							38	43	41					7																	27135377		2203	4299	6502	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135377C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.155G>A	7.37:g.27135377C>T	ENSP00000343246:p.Arg52His		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H|HOTAIRM1_ENST00000495032.1_RNA	p.R52H	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	216	-			52					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.155G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272594	0.40194	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.37915	1.17;1.17	5.15	3.34	0.38264	.	0.338386	0.31268	N	0.007949	T	0.51075	0.1653	L	0.56340	1.77	0.58432	D	0.999993	B;D	0.89917	0.001;1.0	B;D	0.87578	0.001;0.998	T	0.41448	-0.9508	10	0.42905	T	0.14	.	10.3151	0.43732	0.0:0.8353:0.0:0.1647	.	52;52	P49639;E7ERT8	HXA1_HUMAN;.	H	52	ENSP00000343246:R52H;ENSP00000347851:R52H	ENSP00000343246:R52H	R	-	2	0	HOXA1	27101902	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.198000	0.42705	0.562000	0.29204	0.297000	0.19635	CGC		0.662	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			79	435	0	0	0	1	0	79	435					T	27135377	C	T	27135377	3	4	79	1	0	0	0	0	1	0	0	0	7318	768	27	1	860	1	HOXA1	7	27135377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730686	27135377	132003286	8236	18553											
HOXA2	3199	broad.mit.edu	37	chr7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaaatatctacgggaCtgtcgagggaacctggcaaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	350					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448																																						ENST00000222718.5																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(1048-1050)aGt>aAt		homeobox A2							86	85	86					7																	27140427		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140427C>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1049G>A	7.37:g.27140427C>T	ENSP00000222718:p.Ser350Asn						p.S350N	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN			2	1359	-			350					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.1049G>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209575	0.79240	.	.	ENSG00000105996	ENST00000222718	T	0.11169	2.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	350	O43364	HXA2_HUMAN	N	350	ENSP00000222718:S350N	ENSP00000222718:S350N	S	-	2	0	HOXA2	27106952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.492000	0.84095	0.655000	0.94253	AGT		0.448	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			111	519	0	0	0	1	0	111	519					T	27140427	C	T	27140427	3	4	79	1	0	0	0	0	1	0	0	0	7322	565	20	2	85	2	HOXA2	7	27140427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5050	27140427	131998236	8237	18554											
HOXA3	3200	broad.mit.edu	37	chr7	27147792	27147792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggggcttccctgtatgtgTggggtcccatagctgccgtt	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.P358P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	358					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(1072-1074)ccA>ccG		homeobox A3							25	22	23					7																	27147792		2202	4298	6500	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147792T>C		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1074A>G	7.37:g.27147792T>C						HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA	p.P358P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1273	-			358					A4D181	Silent	SNP	ENST00000396352.4	37	c.1074A>G	CCDS5404.1																																																																																				0.672	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			33	126	0	0	0	1	0	33	126					C	27147792	T	C	27147792	2	2	79	1	0	0	0	0	0	0	0	1	7323	1683	59	4		4	HOXA3	7	27147792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	27147792	131990871	8238	18555											
HOXA3	3200	broad.mit.edu	37	chr7	27147987	27147987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggagaagggcgggggCgactggggctcatacgggac	21	8	1	1	rs199930483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.S293S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(877-879)tcG>tcA		homeobox A3							29	35	33					7																	27147987		2202	4298	6500	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147987C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.879G>A	7.37:g.27147987C>T						HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA	p.S293S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1078	-			293					A4D181	Silent	SNP	ENST00000396352.4	37	c.879G>A	CCDS5404.1																																																																																				0.706	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			69	280	0	0	0	1	0	69	280					T	27147987	C	T	27147987	2	4	79	1	0	0	0	0	0	0	0	1	7323	755	27	1		1	HOXA3	7	27147987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195	27147987	131990676	8239	18556											
HOXA3	3200	broad.mit.edu	37	chr7	27150148	27150148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgtcggcgcccaaagCggcggacgccgggtacggct	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150148C>T	ENST00000396352.4	-	2	311	c.112G>A	c.(112-114)Gct>Act	p.A38T	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	38					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCCCAAAGCGGCGGACGCC	0.667																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(112-114)Gct>Act		homeobox A3							20	18	19					7																	27150148		2114	4177	6291	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27150148C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.112G>A	7.37:g.27150148C>T	ENSP00000379640:p.Ala38Thr					HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T|HOXA-AS2_ENST00000518088.1_RNA	p.A38T	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			2	311	-			38					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.112G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	6.951	0.545224	0.13312	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.49	2.64	0.31445	.	0.473046	0.22978	N	0.053349	T	0.20292	0.0488	N	0.14661	0.345	0.22896	N	0.998599	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.02654	T	1	.	2.7398	0.05250	0.2519:0.4799:0.1226:0.1456	.	38	O43365	HXA3_HUMAN	T	38	ENSP00000379640:A38T;ENSP00000324884:A38T;ENSP00000429426:A38T;ENSP00000430566:A38T	ENSP00000324884:A38T	A	-	1	0	HOXA3	27116673	0.533000	0.26354	0.023000	0.16930	0.672000	0.39443	0.930000	0.28858	0.264000	0.21851	0.462000	0.41574	GCT		0.667	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			29	146	0	0	0	1	0	29	146					T	27150148	C	T	27150148	3	4	79	1	0	0	0	0	1	0	0	0	7323	768	27	1	1227	1	HOXA3	7	27150148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	27150148	131988515	8240	18557											
HOXA4	3201	broad.mit.edu	37	chr7	27168987	27168987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgttgggcagtttgtGgtctttcttccacttcatcc	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27168987G>A	ENST00000360046.5	-	2	885	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	274					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGCAGTTTGTGGTCTTTCTTC	0.597																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(820-822)Cac>Tac		homeobox A4							303	247	266					7																	27168987		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27168987G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.820C>T	7.37:g.27168987G>A	ENSP00000353151:p.His274Tyr					HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y	p.H274Y	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	885	-			274					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.820C>T	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240479|4.240479	0.79912|0.79912	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.87491|.	-2.26;-2.26|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (1);|.	0.000000|.	0.43416|.	D|.	0.000577|.	T|T	0.75686|0.75686	0.3883|0.3883	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.65874|.	0.939|.	T|T	0.75031|0.75031	-0.3461|-0.3461	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	274|.	Q00056|.	HXA4_HUMAN|.	Y|L	274|93	ENSP00000353151:H274Y;ENSP00000408845:H274Y|.	ENSP00000353151:H274Y|.	H|P	-|-	1|2	0|0	HOXA4|HOXA4	27135512|27135512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.751000|9.751000	0.98889|0.98889	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	CAC|CCA		0.597	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			10	622	0	0	0	1	0	10	622					A	27168987	G	A	27168987	3	1	79	1	0	0	0	0	1	0	0	0	7324	1348	47	2	146	2	HOXA4	7	27168987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18839	27168987	131969676	8241	18558											
HOXA4	3201	broad.mit.edu	37	chr7	27170305	27170305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctcgaagggagggaaCttgggctcgatgtagttgga	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	16	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(46-48)aaG>aaA		homeobox A4							16	16	16					7																	27170305		2202	4298	6500	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27170305C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.48G>A	7.37:g.27170305C>T						HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K	p.K16K	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			1	113	-			16			Pro-rich (part of the transcriptional activation domain).		A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.48G>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254503	0.59212	.	.	ENSG00000197576	ENST00000548581	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9748	0.19373	0.0:0.7431:0.0:0.2569	.	.	.	.	.	-1	.	.	.	-	.	.	HOXA4	27136830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	2.115000	0.64714	0.650000	0.86243	.		0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			17	73	0	0	0	1	0	17	73					T	27170305	C	T	27170305	2	4	79	1	0	0	0	0	0	0	0	1	7324	564	20	2		2	HOXA4	7	27170305	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1318	27170305	131968358	8242	18559											
HOXA5	3202	broad.mit.edu	37	chr7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaccccctctctgctgCtgatgtgggtgctgccggcg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	138					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746																																					Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(412-414)aGc>aTc		homeobox A5							22	28	26					7																	27182814		2189	4288	6477	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182814C>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"Homeoboxes / ANTP class : HOXL subclass"	5106	protein-coding gene	gene with protein product		142952	"homeo box A5"	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.413G>T	7.37:g.27182814C>A	ENSP00000222726:p.Ser138Ile					HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	p.S138I	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	473	-			138					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.413G>T	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921704	0.17982	.	.	ENSG00000106004	ENST00000222726	D	0.92249	-3.0	4.21	2.41	0.29592	.	0.134181	0.64402	D	0.000003	D	0.82981	0.5155	N	0.21448	0.665	0.31152	N	0.705393	B	0.02656	0.0	B	0.04013	0.001	T	0.74987	-0.3476	10	0.30854	T	0.27	.	6.9164	0.24361	0.1432:0.7032:0.0:0.1537	.	138	P20719	HXA5_HUMAN	I	138	ENSP00000222726:S138I	ENSP00000222726:S138I	S	-	2	0	HOXA5	27149339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.840000	0.39230	0.726000	0.32339	0.591000	0.81541	AGC		0.746	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			79	377	1	0	9.04243e-43	1	1.10195e-42	79	377					A	27182814	C	A	27182814	3	1	79	1	0	0	0	0	1	0	0	0	7325	797	28	3	407	3	HOXA5	7	27182814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12509	27182814	131955849	8243	18560											
HOXA7	3204	broad.mit.edu	37	chr7	27194583	27194583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtcggccttgtccGcggcagcagtggcggcggca	15	16	0	0	rs370998918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27194583G>A	ENST00000242159.3	-	2	771	c.638C>T	c.(637-639)gCg>gTg	p.A213V	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	213					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ggccttgtccGCGGCAGCAGT	0.652																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(637-639)gCg>gTg		homeobox A7		G	VAL/ALA	0,4404		0,0,2202	54	63	60		638	2.7	0	7		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	HOXA7	NM_006896.3	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	213/231	27194583	1,13001	2202	4299	6501	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194583G>A		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.638C>T	7.37:g.27194583G>A	ENSP00000242159:p.Ala213Val					HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	p.A213V	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			2	771	-			213					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.638C>T	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145607	0.06627	0.0	1.16E-4	ENSG00000122592	ENST00000242159	D	0.90955	-2.76	4.49	2.67	0.31697	.	0.298004	0.23277	N	0.049943	T	0.75049	0.3797	N	0.08118	0	0.19775	N	0.999959	B	0.15473	0.013	B	0.04013	0.001	T	0.60434	-0.7264	10	0.30078	T	0.28	.	2.5096	0.04653	0.3265:0.0:0.4544:0.219	.	213	P31268	HXA7_HUMAN	V	213	ENSP00000242159:A213V	ENSP00000242159:A213V	A	-	2	0	HOXA7	27161108	0.000000	0.05858	0.008000	0.14137	0.027000	0.11550	0.868000	0.27982	0.894000	0.36317	-0.369000	0.07265	GCG		0.652	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			11	658	0	0	0	1	0	11	658					A	27194583	G	A	27194583	3	1	79	1	0	0	0	0	1	0	0	0	7327	1087	38	1	58	1	HOXA7	7	27194583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11769	27194583	131944080	8244	18561											
HOXA9	3205	broad.mit.edu	37	chr7	27204771	27204771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgtacctgccgtccggCgccgccgccgccacgggcgc	14	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27204771C>T	ENST00000343483.6	-	1	378	c.306G>A	c.(304-306)gcG>gcA	p.A102A	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Silent_p.A102A|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	102					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGCCGTCCGGCGCCGCCGCCG	0.711			T	"NUP98, MSI2"	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"NUP98, MSI2"		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(304-306)gcG>gcA		homeobox A9							6	10	9					7																	27204771		2040	4034	6074	SO:0001819	synonymous_variant	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204771C>T		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.306G>A	7.37:g.27204771C>T						HOXA9_ENST00000396345.1_Silent_p.A102A|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	p.A102A	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	378	-			102					O43369|O43429|Q99820	Silent	SNP	ENST00000343483.6	37	c.306G>A	CCDS5409.1																																																																																				0.711	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			21	87	0	0	0	1	0	21	87					T	27204771	C	T	27204771	2	4	79	1	0	0	0	0	0	0	0	1	7328	755	27	1		1	HOXA9	7	27204771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10188	27204771	131933892	8245	18562											
HOXA11	3207	broad.mit.edu	37	chr7	27222562	27222562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcttctctttgttaatGtagacgctgaagaagaactc	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y	RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	265					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(793-795)taC>taT		homeobox A11							92	94	93					7																	27222562		2203	4300	6503	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222562G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"Homeoboxes / ANTP class : HOXL subclass"	5101	protein-coding gene	gene with protein product		142958	"homeo box A11"	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.795C>T	7.37:g.27222562G>A							p.Y265Y	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	866	-			265					A4D190	Silent	SNP	ENST00000006015.3	37	c.795C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441812	0.12164	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	-1.18	0.09617	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	11.4646	0.50230	0.5571:0.0:0.4429:0.0	.	.	.	.	I	235	.	.	T	-	2	0	HOXA11	27189087	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.168000	0.31859	-0.109000	0.12044	-0.982000	0.02568	ACA		0.493	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			115	525	0	0	0	1	0	115	525					A	27222562	G	A	27222562	2	1	79	1	0	0	0	0	0	0	0	1	7320	1372	48	2		2	HOXA11	7	27222562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17791	27222562	131916101	8246	18563											
HOXA13	3209	broad.mit.edu	37	chr7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggagctgaactcctcgGcagctgggccggcggtatcc	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	218					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(652-654)gCc>gTc		homeobox A13							33	35	34					7																	27239044		2203	4299	6502	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27239044G>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.653C>T	7.37:g.27239044G>A	ENSP00000222753:p.Ala218Val					HOTTIP_ENST00000421733.1_RNA	p.A218V	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			1	681	-			218					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.653C>T	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698676	0.88830	.	.	ENSG00000106031	ENST00000222753	T	0.45276	0.9	4.11	3.19	0.36642	.	0.115129	0.56097	D	0.000034	T	0.40094	0.1103	L	0.33245	0.995	0.30730	N	0.747292	P	0.42961	0.795	P	0.50270	0.636	T	0.43605	-0.9381	10	0.87932	D	0	.	7.8364	0.29371	0.0:0.3133:0.5316:0.1551	.	218	P31271	HXA13_HUMAN	V	218	ENSP00000222753:A218V	ENSP00000222753:A218V	A	-	2	0	HOXA13	27205569	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.709000	0.47160	0.794000	0.33899	0.456000	0.33151	GCC		0.692	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			59	232	0	0	0	1	0	59	232					A	27239044	G	A	27239044	3	1	79	1	0	0	0	0	1	0	0	0	7321	1203	42	2	521	2	HOXA13	7	27239044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16482	27239044	131899619	8247	18564											
EVX1	2128	broad.mit.edu	37	chr7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaagaaatcgaggtgAgctgcaccccggactgcgcc	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_Intron|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	126					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AATCGAGGTGAGCTGCACCCC	0.682																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(376-378)Agc>Ggc		even-skipped homeobox 1							19	20	20					7																	27283025		2193	4282	6475	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27283025A>G		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.376A>G	7.37:g.27283025A>G	ENSP00000419266:p.Ser126Gly					EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron	p.S126G			P49640	EVX1_HUMAN			1	862	+			126					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.376A>G	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563897	0.13498	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.71581	2.175	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.83129	-0.0114	10	0.06099	T	0.92	-24.7788	15.3786	0.74633	1.0:0.0:0.0:0.0	.	126	P49640	EVX1_HUMAN	G	126	ENSP00000419266:S126G	ENSP00000419266:S126G	S	+	1	0	EVX1	27249550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.038000	0.60285	0.459000	0.35465	AGC		0.682	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			13	174	0	0	0	1	0	13	174					G	27283025	A	G	27283025	3	3	79	1	0	0	0	0	1	0	0	0	5312	304	11	4	378	4	EVX1	7	27283025	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43981	27283025	131855638	8248	18565											
EVX1	2128	broad.mit.edu	37	chr7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaccctggcgtgcagcGccagtgaccagatgcgtcgt	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_5'UTR|EVX1_ENST00000222761.3_Silent_p.A160A			P49640	EVX1_HUMAN	even-skipped homeobox 1	179					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(535-537)Gcc>Acc		even-skipped homeobox 1							39	43	42					7																	27284774		2203	4300	6503	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27284774G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.535G>A	7.37:g.27284774G>A	ENSP00000419266:p.Ala179Thr					EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_5'UTR|EVX1_ENST00000222761.3_Silent_p.A160A	p.A179T			P49640	EVX1_HUMAN			2	1021	+			179					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.535G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387359	0.82902	.	.	ENSG00000106038	ENST00000496902	D	0.95656	-3.77	5.41	5.41	0.78517	Homeodomain-related (1);Homeodomain-like (1);	0.103751	0.64402	D	0.000004	D	0.93726	0.7995	M	0.64997	1.995	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	D	0.94154	0.7408	10	0.52906	T	0.07	-20.9374	19.1941	0.93679	0.0:0.0:1.0:0.0	.	179	P49640	EVX1_HUMAN	T	179	ENSP00000419266:A179T	ENSP00000419266:A179T	A	+	1	0	EVX1	27251299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.718000	0.68455	2.542000	0.85734	0.462000	0.41574	GCC		0.672	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			99	368	0	0	0	1	0	99	368					A	27284774	G	A	27284774	3	1	79	1	0	0	0	0	1	0	0	0	5312	1087	38	1	541	1	EVX1	7	27284774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1749	27284774	131853889	8249	18566											
HIBADH	11112	broad.mit.edu	37	chr7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcctcctctcgtaGgaactggaacacggatgaga	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TCCTCTCGTAGGAACTGGAAC	0.502																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(988-990)Cta>Ata		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						111	84	93					7																	27565856		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565856G>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.988C>A	7.37:g.27565856G>T	ENSP00000265395:p.Leu330Ile						p.L330I	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1194	-			330					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.988C>A	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441916	0.63067	.	.	ENSG00000106049	ENST00000265395	T	0.36340	1.26	6.16	5.29	0.74685	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.71920	2.185	0.80722	D	1	B	0.27997	0.197	P	0.49665	0.618	T	0.55717	-0.8097	10	0.45353	T	0.12	-1.5058	7.2851	0.26333	0.2718:0.0:0.7282:0.0	.	330	P31937	3HIDH_HUMAN	I	330	ENSP00000265395:L330I	ENSP00000265395:L330I	L	-	1	2	HIBADH	27532381	1.000000	0.71417	0.867000	0.34043	0.821000	0.46438	4.995000	0.63908	1.629000	0.50426	0.650000	0.86243	CTA		0.502	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		34	114	1	0	9.65021e-13	1	1.03847e-12	34	114					T	27565856	G	T	27565856	3	4	79	1	0	0	0	0	1	0	0	0	7129	991	35	3	26	3	HIBADH	7	27565856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281082	27565856	131572807	8250	18567											
HIBADH	11112	broad.mit.edu	37	chr7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttctcaacttctttggCcaattcttttgaaactgcag	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	144					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			ACTTCTTTGGCCAATTCTTTT	0.333																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(430-432)Gcc>Acc		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						147	146	146					7																	27669044		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27669044C>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.430G>A	7.37:g.27669044C>T	ENSP00000265395:p.Ala144Thr						p.A144T	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		4	636	-			144					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.430G>A	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728778|4.728778	0.89390|0.89390	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.38401|.	1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.103605|.	0.64402|.	D|.	0.000003|.	D|.	0.84365|.	0.5456|.	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	B;B|.	0.27882|.	0.192;0.192|.	B;B|.	0.37550|.	0.253;0.253|.	D|.	0.85455|.	0.1163|.	10|.	0.59425|.	D|.	0.04|.	-17.6332|-17.6332	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144;144|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	T|X	144|86	ENSP00000265395:A144T|.	ENSP00000265395:A144T|.	A|W	-|-	1|3	0|0	HIBADH|HIBADH	27635569|27635569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.490000|4.490000	0.60319|0.60319	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.333	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		71	426	0	0	0	1	0	71	426					T	27669044	C	T	27669044	3	4	79	1	0	0	0	0	1	0	0	0	7129	739	26	2	600	2	HIBADH	7	27669044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103188	27669044	131469619	8251	18568											
TAX1BP1	8887	broad.mit.edu	37	chr7	27797740	27797740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaacagtcaattgtgtaCtagcattccaaggtaaggac	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	ENST00000396319.2	+	3	341	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	85					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAATTGTGTACTAGCATTCCA	0.388																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(253-255)Cta>Tta		Tax1 (human T-cell leukemia virus type I) binding protein 1							193	159	170					7																	27797740		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27797740C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.253C>T	7.37:g.27797740C>T						TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.L85L|TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L	p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		3	341	+			85					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.253C>T	CCDS5415.1																																																																																				0.388	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		10	357	0	0	0	1	0	10	357					T	27797740	C	T	27797740	2	4	79	1	0	0	0	0	0	0	0	1	15646	564	20	2		2	TAX1BP1	7	27797740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128696	27797740	131340923	8252	18569											
TAX1BP1	8887	broad.mit.edu	37	chr7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcagtaacacataaaGcaattgaaaaagaaaccgaa	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	245					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACACATAAAGCAATTGAAAA	0.279																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(733-735)Gca>Tca		Tax1 (human T-cell leukemia virus type I) binding protein 1							80	77	78					7																	27824902		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27824902G>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.733G>T	7.37:g.27824902G>T	ENSP00000379612:p.Ala245Ser					TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S	p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		6	821	+			245					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.733G>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166803	0.94768	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.30823	0.0777	L	0.53249	1.67	0.58432	D	0.999994	D;P;D	0.89917	1.0;0.877;0.971	D;P;P	0.91635	0.999;0.74;0.888	T	0.00122	-1.2027	10	0.30854	T	0.27	-17.8587	20.2572	0.98426	0.0:0.0:1.0:0.0	.	88;245;245	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	245;245;245;88;245	ENSP00000444811:A245S;ENSP00000265393:A245S;ENSP00000386515:A245S;ENSP00000391907:A88S;ENSP00000379612:A245S	ENSP00000265393:A245S	A	+	1	0	TAX1BP1	27791427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.960000	0.70348	2.793000	0.96121	0.650000	0.86243	GCA		0.279	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		45	215	1	0	1.00776e-21	1	1.13667e-21	45	215					T	27824902	G	T	27824902	3	4	79	1	0	0	0	0	1	0	0	0	15646	971	34	3	751	3	TAX1BP1	7	27824902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27162	27824902	131313761	8253	18570											
JAZF1	221895	broad.mit.edu	37	chr7	28220184	28220184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagaaggaggcggcggCgatgcctgtcatggtgctac	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28220184C>T	ENST00000283928.5	-	1	178	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GAGGCGGCGGCGATGCCTGTC	0.677			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(13-15)Gcc>Acc		JAZF zinc finger 1							37	36	36					7																	28220184		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:28220184C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.13G>A	7.37:g.28220184C>T	ENSP00000283928:p.Ala5Thr					JAZF1-AS1_ENST00000436758.1_RNA|JAZF1-AS1_ENST00000455963.1_RNA	p.A5T	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			1	178	-			5					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.13G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421611	0.83559	.	.	ENSG00000153814	ENST00000283928	T	0.78246	-1.16	2.46	1.54	0.23209	.	0.182425	0.34133	U	0.004221	T	0.61813	0.2377	L	0.51422	1.61	0.46078	D	0.998858	P	0.45011	0.848	B	0.26517	0.07	T	0.58668	-0.7596	10	0.41790	T	0.15	.	9.3941	0.38392	0.0:0.8851:0.0:0.1149	.	5	Q86VZ6	JAZF1_HUMAN	T	5	ENSP00000283928:A5T	ENSP00000283928:A5T	A	-	1	0	JAZF1	28186709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	0.326000	0.23384	0.460000	0.39030	GCC		0.677	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		5	186	0	0	0	1	0	5	186					T	28220184	C	T	28220184	3	4	79	1	0	0	0	0	1	0	0	0	7976	768	27	1	738	1	JAZF1	7	28220184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395282	28220184	130918479	8254	18571											
CREB5	9586	broad.mit.edu	37	chr7	28844112	28844112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagacctcgccacatccGcccctgcacaccggcaacca	6	22	0	1	rs61736232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28844112G>A	ENST00000357727.2	+	8	1389	c.999G>A	c.(997-999)ccG>ccA	p.P333P	CREB5_ENST00000396300.2_Silent_p.P326P|CREB5_ENST00000409603.1_Silent_p.P300P|CREB5_ENST00000396299.2_Silent_p.P300P|CREB5_ENST00000396298.2_Silent_p.P194P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	333					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGCCACATCCGCCCCTGCACA	0.542																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(997-999)ccG>ccA		cAMP responsive element binding protein 5		G	,,,	1,4405	2.1+/-5.4	0,1,2202	358	247	285		582,978,999,900	-4.5	0.9	7	dbSNP_129	285	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CREB5	NM_001011666.1,NM_004904.2,NM_182898.2,NM_182899.3	,,,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,,,	194/370,326/502,333/509,300/476	28844112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28844112G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.999G>A	7.37:g.28844112G>A						CREB5_ENST00000409603.1_Silent_p.P300P|CREB5_ENST00000396298.2_Silent_p.P194P|CREB5_ENST00000396299.2_Silent_p.P300P|CREB5_ENST00000396300.2_Silent_p.P326P	p.P333P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			8	1389	+			333					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.999G>A	CCDS5417.1																																																																																				0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		35	787	0	0	0	1	0	35	787					A	28844112	G	A	28844112	2	1	79	1	0	0	0	0	0	0	0	1	3869	1074	38	1		1	CREB5	7	28844112	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623928	28844112	130294551	8255	18572											
CHN2	1124	broad.mit.edu	37	chr7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgaatgcagaaaatcTggggatcgtgtttgggccca	12	7	2	2	rs374654158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000222792.6	+	13	1810	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1279-1281)cTg>cGg		chimerin 2							91	93	92					7																	29552224		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552224T>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1280T>G	7.37:g.29552224T>G	ENSP00000222792:p.Leu427Arg					CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R	p.L427R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			13	1810	+			427			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1280T>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149759	0.78001	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.57907	0.51;0.51;0.37;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068865	0.64402	D	0.000011	D	0.84188	0.5417	H	0.99312	4.51	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.763;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.917;0.918;0.992;0.582;0.998;0.999;0.998;0.999;0.998;0.917;0.992;0.917	D	0.90959	0.4811	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	220;412;440;502;246;200;219;187;245;233;283;427;291;427	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	502;427;151;440;283;412;291;246;245;233	ENSP00000444063:L502R;ENSP00000222792:L427R;ENSP00000400282:L151R;ENSP00000438587:L440R;ENSP00000440526:L283R;ENSP00000442812:L412R;ENSP00000386849:L291R;ENSP00000406337:L246R;ENSP00000387425:L245R;ENSP00000394284:L233R	ENSP00000222792:L427R	L	+	2	0	CHN2	29518749	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTG		0.428	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		73	300	0	0	0	1	0	73	300					G	29552224	T	G	29552224	3	3	79	1	0	0	0	0	1	0	0	0	3372	1580	55	4	1498	4	CHN2	7	29552224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	708112	29552224	129586439	8256	18573											
SCRN1	9805	broad.mit.edu	37	chr7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggtcccccacttccGcagggtccagtggctcggag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(1186-1188)gCg>gTg		secernin 1							104	106	105					7																	29963631		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29963631G>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1187C>T	7.37:g.29963631G>A	ENSP00000409068:p.Ala396Val					SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V	p.A396V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			8	1363	-			396					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.1187C>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408774	0.11812	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12255	3.22;3.22;3.07;3.22;2.7;3.21	4.73	3.85	0.44370	.	0.335476	0.28011	N	0.016950	T	0.10423	0.0255	L	0.42245	1.32	0.09310	N	1	B;B;P;B	0.36837	0.106;0.049;0.571;0.007	B;B;B;B	0.27262	0.007;0.007;0.078;0.004	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.9737	11.8492	0.52401	0.0863:0.0:0.9137:0.0	.	416;416;328;396	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	V	396;396;328;200;396;222;416	ENSP00000242059:A396V;ENSP00000409068:A396V;ENSP00000414245:A328V;ENSP00000386872:A396V;ENSP00000407460:A222V;ENSP00000388942:A416V	ENSP00000242059:A396V	A	-	2	0	SCRN1	29930156	0.123000	0.22298	0.015000	0.15790	0.099000	0.18886	2.986000	0.49370	1.108000	0.41662	0.655000	0.94253	GCG		0.522	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		124	516	0	0	0	1	0	124	516					A	29963631	G	A	29963631	3	1	79	1	0	0	0	0	1	0	0	0	13988	1087	38	1	61	1	SCRN1	7	29963631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411407	29963631	129175032	8257	18574											
SCRN1	9805	broad.mit.edu	37	chr7	29963698	29963698	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggccttgcttctccagctCcagcatggtgctcctcagct	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963698C>A	ENST00000426154.1	-	8	1296	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000434476.2_Nonsense_Mutation_p.E394*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000425819.2_Nonsense_Mutation_p.E306*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	374					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTCTCCAGCTCCAGCATGGTG	0.552																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(1120-1122)Gag>Tag		secernin 1							82	75	77					7																	29963698		2203	4300	6503	SO:0001587	stop_gained	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29963698C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1120G>T	7.37:g.29963698C>A	ENSP00000409068:p.Glu374*					SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*	p.E374*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			8	1296	-			374					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Nonsense_Mutation	SNP	ENST00000426154.1	37	c.1120G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430932	0.96150	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	.	.	.	4.59	4.59	0.56863	.	0.073478	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.3403	16.3318	0.83023	0.0:1.0:0.0:0.0	.	.	.	.	X	374;374;306;178;374;200;394	.	ENSP00000242059:E374X	E	-	1	0	SCRN1	29930223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.291000	0.65667	2.249000	0.74217	0.561000	0.74099	GAG		0.552	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		82	321	1	0	3.26865e-45	1	4.00579e-45	82	321					A	29963698	C	A	29963698	4	1	79	1	0	0	0	0	0	1	0	0	13988	864	30	3	128	3	SCRN1	7	29963698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	29963698	129174965	8258	18575											
SCRN1	9805	broad.mit.edu	37	chr7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggcagcccagtacttcCctatggtctcgagcacccag	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(514-516)gGg>gAg		secernin 1							159	132	141					7																	29983622		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983622C>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.515G>A	7.37:g.29983622C>T	ENSP00000409068:p.Gly172Glu					SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E	p.G172E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	691	-			172					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.515G>A	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199317	0.94997	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;2.28;-0.11;-0.11	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	E	172;172;104;172;63;192;172	ENSP00000242059:G172E;ENSP00000409068:G172E;ENSP00000414245:G104E;ENSP00000386872:G172E;ENSP00000407460:G63E;ENSP00000388942:G192E;ENSP00000413184:G172E	.	G	-	2	0	SCRN1	29950147	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		0.532	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		90	419	0	0	0	1	0	90	419					T	29983622	C	T	29983622	3	4	79	1	0	0	0	0	1	0	0	0	13988	623	22	2	749	2	SCRN1	7	29983622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19924	29983622	129155041	8259	18576											
SCRN1	9805	broad.mit.edu	37	chr7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagacaatgacatctaagGcttctttagctgtttcccct	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	126					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(376-378)gCc>gAc		secernin 1							116	104	108					7																	29983760		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983760G>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.377C>A	7.37:g.29983760G>T	ENSP00000409068:p.Ala126Asp					SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D	p.A126D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	553	-			126					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.377C>A	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281032	0.95489	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.56103	1.67;1.67;1.67;1.67;1.88;1.67;1.67;0.48	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	H	0.96175	3.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87229	0.2259	9	.	.	.	-17.6619	18.9075	0.92469	0.0:0.0:1.0:0.0	.	146;58;126	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	D	126;126;58;126;17;146;126;126	ENSP00000242059:A126D;ENSP00000409068:A126D;ENSP00000414245:A58D;ENSP00000386872:A126D;ENSP00000407460:A17D;ENSP00000388942:A146D;ENSP00000413184:A126D;ENSP00000406289:A126D	.	A	-	2	0	SCRN1	29950285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCC		0.423	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		64	311	1	0	3.07281e-33	1	3.63882e-33	64	311					T	29983760	G	T	29983760	3	4	79	1	0	0	0	0	1	0	0	0	13988	1203	42	3	887	3	SCRN1	7	29983760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	29983760	129154903	8260	18577											
PLEKHA8	84725	broad.mit.edu	37	chr7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgctcctgttaagatggatCttgttggaaatattaaggtg	11	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000449726.1	+	10	1431	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	361	Glycolipid transfer protein homology domain.			MDLVGNI -> DGSCWKY (in Ref. 5; AAG48267). {ECO:0000305}.	ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1081-1083)Ctt>Att		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							117	113	114					7																	30100541		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30100541C>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1081C>A	7.37:g.30100541C>A	ENSP00000397947:p.Leu361Ile					PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I	p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			10	1431	+			361	MDLVGNI -> DGSCWKY (in Ref. 4; AAG48267).				B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1081C>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165487	0.21538	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	4.91	4.91	0.64330	Glycolipid transfer protein domain (3);	0.056844	0.64402	D	0.000001	T	0.33059	0.0850	N	0.11818	0.18	0.27784	N	0.943051	B;P;D;P	0.67145	0.211;0.885;0.996;0.846	B;P;D;B	0.75484	0.066;0.589;0.986;0.41	T	0.18116	-1.0347	9	0.09084	T	0.74	-24.9016	7.9807	0.30181	0.0:0.8245:0.0:0.1755	.	361;361;361;361	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	361;361;361;361;387	.	ENSP00000258679:L361I	L	+	1	0	PLEKHA8	30067066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.410000	0.81850	0.467000	0.42956	CTT		0.323	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		83	375	1	0	5.25376e-55	1	6.56284e-55	83	375					A	30100541	C	A	30100541	3	1	79	1	0	0	0	0	1	0	0	0	12104	913	32	3	1119	3	PLEKHA8	7	30100541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116781	30100541	129038122	8261	18578											
C7orf41	222166	broad.mit.edu	37	chr7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgtctccttctatgtgCtgtgtccggacaacggctgc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000324453.8	+	1	457	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		44					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657																																						ENST00000324453.8																			0				NS(1)|large_intestine(2)	3						c.(130-132)Ctg>Atg									22	29	26					7																	30174882		2158	4270	6428	SO:0001583	missense	0							g.chr7:30174882C>A																												ENST00000324453.8:c.130C>A	7.37:g.30174882C>A	ENSP00000324204:p.Leu44Met					C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN			1	457	+			44					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.130C>A	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816213	0.50527	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	2.75	0.32379	.	0.207640	0.30714	U	0.009021	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	D	0.65323	0.934	T	0.52668	-0.8545	9	0.66056	D	0.02	-9.4088	8.8308	0.35082	0.0:0.8806:0.0:0.1194	.	44	Q8N3F0	CG041_HUMAN	M	44	.	ENSP00000324204:L44M	L	+	1	2	C7orf41	30141407	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	3.833000	0.55790	0.497000	0.27926	0.289000	0.19496	CTG		0.657	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			11	73	1	0	0.000151284	1	0.000153739	11	73					A	30174882	C	A	30174882	3	1	79	1	0	0	0	0	1	0	0	0	2398	796	28	3	132	3	C7orf41	7	30174882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74341	30174882	128963781	8262	18579											
NOD1	10392	broad.mit.edu	37	chr7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggcgctgcagtcggCcgagcaggcgttgcagtagg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	690					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCAGTCGGCCGAGCAGGCG	0.627																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2068-2070)Gcc>Acc		nucleotide-binding oligomerization domain containing 1							92	101	98					7																	30490965		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30490965C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2068G>A	7.37:g.30490965C>T	ENSP00000222823:p.Ala690Thr						p.A690T	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2593	-			690					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2068G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956733	0.73902	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.71	5.71	0.89125	.	0.157867	0.56097	D	0.000037	T	0.62998	0.2474	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.65195	-0.6227	10	0.56958	D	0.05	.	13.7785	0.63069	0.1532:0.8468:0.0:0.0	.	690	Q9Y239	NOD1_HUMAN	T	690	ENSP00000222823:A690T	ENSP00000222823:A690T	A	-	1	0	NOD1	30457490	0.990000	0.36364	0.865000	0.33974	0.953000	0.61014	2.834000	0.48167	2.709000	0.92574	0.655000	0.94253	GCC		0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			105	422	0	0	0	1	0	105	422					T	30490965	C	T	30490965	3	4	79	1	0	0	0	0	1	0	0	0	10558	739	26	2	829	2	NOD1	7	30490965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316083	30490965	128647698	8263	18580											
NOD1	10392	broad.mit.edu	37	chr7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccgctgcaccaggctgCtgggctgcatcctgttcaga	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCAGGCTGCTGGGCTGCAT	0.652																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1315-1317)aGc>aTc		nucleotide-binding oligomerization domain containing 1							56	54	54					7																	30491717		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491717C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1316G>T	7.37:g.30491717C>A	ENSP00000222823:p.Ser439Ile						p.S439I	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1841	-			439			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1316G>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383985	0.25031	.	.	ENSG00000106100	ENST00000222823	T	0.71934	-0.61	5.71	1.63	0.23807	NACHT nucleoside triphosphatase (1);	0.663946	0.17186	N	0.183688	T	0.52419	0.1733	N	0.14661	0.345	0.38005	D	0.934361	B	0.09022	0.002	B	0.04013	0.001	T	0.46952	-0.9154	10	0.41790	T	0.15	.	12.7173	0.57121	0.078:0.6397:0.2823:0.0	.	439	Q9Y239	NOD1_HUMAN	I	439	ENSP00000222823:S439I	ENSP00000222823:S439I	S	-	2	0	NOD1	30458242	0.998000	0.40836	0.956000	0.39512	0.962000	0.63368	2.780000	0.47742	0.308000	0.22923	0.563000	0.77884	AGC		0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			40	400	1	0	1.67305e-13	1	1.80725e-13	40	400					A	30491717	C	A	30491717	3	1	79	1	0	0	0	0	1	0	0	0	10558	797	28	3	1581	3	NOD1	7	30491717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	752	30491717	128646946	8264	18581											
NOD1	10392	broad.mit.edu	37	chr7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcagcaagttgtccaccaGacactgagtattgcggatgt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	40	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTCCACCAGACACTGAGTA	0.527																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(118-120)Ctg>Atg		nucleotide-binding oligomerization domain containing 1							178	153	161					7																	30496420		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30496420G>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.118C>A	7.37:g.30496420G>T	ENSP00000222823:p.Leu40Met					NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			4	643	-			40			CARD.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.118C>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887516	0.72410	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433;ENST00000419601	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.8	4.92	0.64577	DEATH-like (2);Caspase Recruitment (2);	0.070867	0.56097	D	0.000035	T	0.50222	0.1603	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	T	0.39078	-0.9631	10	0.26408	T	0.33	.	9.7691	0.40578	0.1422:0.0:0.8578:0.0	.	40;40	B4DTU3;Q9Y239	.;NOD1_HUMAN	M	40	ENSP00000222823:L40M;ENSP00000409416:L40M;ENSP00000396046:L40M;ENSP00000395551:L40M;ENSP00000399505:L40M	ENSP00000222823:L40M	L	-	1	2	NOD1	30462945	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.014000	0.29950	2.744000	0.94065	0.655000	0.94253	CTG		0.527	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			95	383	1	0	4.4782e-45	1	5.48732e-45	95	383					T	30496420	G	T	30496420	3	4	79	1	0	0	0	0	1	0	0	0	10558	933	33	3	2787	3	NOD1	7	30496420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4703	30496420	128642243	8265	18582											
GARS	2617	broad.mit.edu	37	chr7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaagcccgcaagagggttCtggaagcaaaggtgagtcct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	105	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(313-315)Ctg>Atg		glycyl-tRNA synthetase	Glycine(DB00145)						55	58	57					7																	30638502		1878	4097	5975	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30638502C>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.313C>A	7.37:g.30638502C>A	ENSP00000373918:p.Leu105Met						p.L105M	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			2	554	+			105			WHEP-TRS.		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.313C>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276056	0.59649	.	.	ENSG00000106105	ENST00000389266	T	0.43688	0.94	5.29	3.46	0.39613	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.91300	3.195	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.70142	-0.4953	10	0.59425	D	0.04	-11.9529	8.6872	0.34245	0.0:0.8139:0.0:0.1861	.	105	P41250	SYG_HUMAN	M	105	ENSP00000373918:L105M	ENSP00000373918:L105M	L	+	1	2	GARS	30605027	0.963000	0.33076	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	1.396000	0.46663	0.655000	0.94253	CTG		0.438	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		35	171	1	0	3.11337e-16	1	3.41587e-16	35	171					A	30638502	C	A	30638502	3	1	79	1	0	0	0	0	1	0	0	0	6270	912	32	3	319	3	GARS	7	30638502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142082	30638502	128500161	8266	18583											
GARS	2617	broad.mit.edu	37	chr7	30639665	30639665	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcttttgctatttatggaGgtaagggattaatgacaaaa	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	143					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TATTTATGGAGGTAAGGGATT	0.378																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.e3+1		glycyl-tRNA synthetase	Glycine(DB00145)						70	68	69					7																	30639665		1850	4092	5942	SO:0001630	splice_region_variant	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30639665G>T	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.427+1G>T	7.37:g.30639665G>T							p.G143_splice	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			3	668	+			143					B3KQA2|B4DIA0|Q969Y1	Splice_Site	SNP	ENST00000389266.3	37	c.427_splice	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749564	0.89753	.	.	ENSG00000106105	ENST00000389266	T	0.81163	-1.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95100	0.8229	10	0.87932	D	0	-18.4527	17.4148	0.87497	0.0:0.0:1.0:0.0	.	143	P41250	SYG_HUMAN	C	143	ENSP00000373918:G143C	ENSP00000373918:G143C	G	+	1	0	GARS	30606190	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.818000	0.99354	2.784000	0.95788	0.643000	0.83706	GGT		0.378	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	Missense_Mutation	6	300	1	0	0.27861	1	0.278732	6	300					T	30639665	G	T	30639665	5	4	79	1	0	0	0	0	0	0	1	0	6270	1014	35	3	437	3	GARS	7	30639665	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1163	30639665	128498998	8267	18584											
GARS	2617	broad.mit.edu	37	chr7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgcaccatgctcacccctGagccagttttaaagtgagat	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	186					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(556-558)Gag>Aag		glycyl-tRNA synthetase	Glycine(DB00145)						91	86	88					7																	30640803		1892	4116	6008	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30640803G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.556G>A	7.37:g.30640803G>A	ENSP00000373918:p.Glu186Lys						p.E186K	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			4	797	+			186					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.556G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074508	0.94000	.	.	ENSG00000106105	ENST00000389266	T	0.68181	-0.31	5.69	4.77	0.60923	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045743	0.85682	D	0.000000	T	0.70622	0.3245	L	0.53671	1.685	0.80722	D	1	D	0.53745	0.962	P	0.50970	0.655	T	0.73924	-0.3829	10	0.72032	D	0.01	-19.5156	15.265	0.73654	0.0:0.141:0.859:0.0	.	186	P41250	SYG_HUMAN	K	186	ENSP00000373918:E186K	ENSP00000373918:E186K	E	+	1	0	GARS	30607328	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.757000	0.98924	2.857000	0.98124	0.650000	0.86243	GAG		0.368	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		77	297	0	0	0	1	0	77	297					A	30640803	G	A	30640803	3	1	79	1	0	0	0	0	1	0	0	0	6270	1291	45	2	570	2	GARS	7	30640803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	30640803	128497860	8268	18585											
GARS	2617	broad.mit.edu	37	chr7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatctccagataaactccGcttccggcagcacatggaga	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	428					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1282-1284)cGc>cAc		glycyl-tRNA synthetase	Glycine(DB00145)						146	137	140					7																	30656818		1938	4155	6093	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30656818G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1283G>A	7.37:g.30656818G>A	ENSP00000373918:p.Arg428His						p.R428H	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			10	1524	+			428					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.1283G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200674	0.94997	.	.	ENSG00000106105	ENST00000389266	T	0.72051	-0.62	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89500	0.3763	10	0.87932	D	0	-9.9164	16.6573	0.85232	0.0:0.0:1.0:0.0	.	428	P41250	SYG_HUMAN	H	428	ENSP00000373918:R428H	ENSP00000373918:R428H	R	+	2	0	GARS	30623343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		0.458	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		69	309	0	0	0	1	0	69	309					A	30656818	G	A	30656818	3	1	79	1	0	0	0	0	1	0	0	0	6270	1087	38	1	1321	1	GARS	7	30656818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16015	30656818	128481845	8269	18586											
CRHR2	1395	broad.mit.edu	37	chr7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgatgtagggatggAcatggcccgggccatgggga	20	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	392					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1174-1176)Tcc>Ccc		corticotropin releasing hormone receptor 2							171	153	159					7																	30693138		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693138A>G		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1174T>C	7.37:g.30693138A>G	ENSP00000418722:p.Ser392Pro					CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	p.S392P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1591	-			392					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1174T>C	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725952	0.89298	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46819	0.86;0.99;0.87	4.45	4.45	0.53987	.	0.057019	0.64402	D	0.000001	T	0.68256	0.2981	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.994;0.987	T	0.72760	-0.4196	10	0.66056	D	0.02	.	12.0233	0.53356	1.0:0.0:0.0:0.0	.	391;419;378;392	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	P	392;419;378	ENSP00000418722:S392P;ENSP00000340943:S419P;ENSP00000344304:S378P	ENSP00000344304:S378P	S	-	1	0	CRHR2	30659663	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.300000	0.96151	1.793000	0.52555	0.378000	0.23410	TCC		0.652	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			146	596	0	0	0	1	0	146	596					G	30693138	A	G	30693138	3	3	79	1	0	0	0	0	1	0	0	0	3881	275	10	4	65	4	CRHR2	7	30693138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36320	30693138	128445525	8270	18587											
INMT	11185	broad.mit.edu	37	chr7	30793510	30793510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccgggggcctatgaCtggaccccagcggtgaaatt	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	ENST00000013222.5	+	2	334	c.318C>A	c.(316-318)gaC>gaA	p.D106E	INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D105E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	106					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGCCTATGACTGGACCCCAG	0.572																																						ENST00000458257.1																			0											c.(313-315)gaC>gaA									78	86	83					7																	30793510		2203	4300	6503	SO:0001583	missense	0							g.chr7:30793510C>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.318C>A	7.37:g.30793510C>A	ENSP00000013222:p.Asp106Glu					INMT_ENST00000409539.1_Missense_Mutation_p.D105E|INMT_ENST00000013222.5_Missense_Mutation_p.D106E|INMT_ENST00000484180.1_3'UTR	p.D105E							2	329	+								B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.315C>A	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285357	0.59867	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.05649	3.41;3.41	3.69	3.69	0.42338	.	0.000000	0.64402	D	0.000011	T	0.18635	0.0447	M	0.73372	2.23	0.41786	D	0.989844	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00433	-1.1742	10	0.44086	T	0.13	-26.0641	7.2097	0.25927	0.0:0.8781:0.0:0.1219	.	105;106	B8ZZ69;O95050	.;INMT_HUMAN	E	106;105	ENSP00000013222:D106E;ENSP00000386961:D105E	ENSP00000013222:D106E	D	+	3	2	INMT	30760035	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	2.516000	0.45520	2.043000	0.60533	0.561000	0.74099	GAC		0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		130	650	1	0	6.21504e-60	1	7.81052e-60	130	650					A	30793510	C	A	30793510	3	1	79	1	0	0	0	0	1	0	0	0	7775	564	20	3	324	3	INMT	7	30793510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100372	30793510	128345153	8271	18588											
FAM188B	84182	broad.mit.edu	37	chr7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaattgacctctcagTagcaaaggtaagtgtaagga	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	411										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1231-1233)gTa>gCa		family with sequence similarity 188, member B							170	167	168					7																	30876373		2047	4203	6250	SO:0001583	missense	84182							g.chr7:30876373T>C	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.1232T>C	7.37:g.30876373T>C	ENSP00000265299:p.Val411Ala					INMT-FAM188B_ENST00000458257.1_3'UTR	p.V411A	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			7	1309	+			411					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1232T>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	7.292	0.611184	0.14066	.	.	ENSG00000106125	ENST00000265299	T	0.09538	2.97	4.67	2.37	0.29283	.	0.921018	0.09231	N	0.830597	T	0.09423	0.0232	L	0.44542	1.39	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.35301	-0.9794	10	0.87932	D	0	-1.3325	2.773	0.05340	0.1888:0.1998:0.0:0.6114	.	411	Q4G0A6	F188B_HUMAN	A	411	ENSP00000265299:V411A	ENSP00000265299:V411A	V	+	2	0	FAM188B	30842898	0.028000	0.19301	0.811000	0.32455	0.576000	0.36127	0.479000	0.22228	0.948000	0.37687	0.528000	0.53228	GTA		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		99	308	0	0	0	1	0	99	308					C	30876373	T	C	30876373	3	2	79	1	0	0	0	0	1	0	0	0	5536	1638	57	4	1258	4	FAM188B	7	30876373	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	82863	30876373	128262290	8272	18589											
GHRHR	2692	broad.mit.edu	37	chr7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctggcctgggcatccGcctccccctggagctgggac	13	16	0	0	rs201403615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000326139.2	+	11	1116	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R293H|GHRHR_ENST00000409316.1_Silent_p.P123P	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGGGCATCCGCCTCCCCCTG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		14801	0.001		0.0	False		,,,				2504	0.0					ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(877-879)cGc>cAc		growth hormone releasing hormone receptor	Sermorelin(DB00010)	G	HIS/ARG	0,4406		0,0,2203	48	42	44		1070	5.1	1	7		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	GHRHR	NM_000823.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	357/424	31016139	1,13005	2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016139G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1070G>A	7.37:g.31016139G>A	ENSP00000320180:p.Arg357His					GHRHR_ENST00000326139.2_Missense_Mutation_p.R357H|GHRHR_ENST00000409316.1_Silent_p.P123P|GHRHR_ENST00000461424.1_3'UTR	p.R293H			Q02643	GHRHR_HUMAN			8	1136	+			357					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.878G>A	CCDS5432.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.64	3.668179	0.67814	0.0	1.16E-4	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.46451	0.87;0.87	5.05	5.05	0.67936	GPCR, family 2-like (1);	.	.	.	.	T	0.47525	0.1450	M	0.62088	1.915	0.80722	D	1	P;D	0.54964	0.856;0.969	B;P	0.46850	0.303;0.529	T	0.54344	-0.8308	9	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	293;357	Q9HB45;Q02643	.;GHRHR_HUMAN	H	357;293	ENSP00000320180:R357H;ENSP00000387113:R293H	ENSP00000320180:R357H	R	+	2	0	GHRHR	30982664	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.069000	0.76755	2.346000	0.79739	0.546000	0.68486	CGC		0.577	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			26	107	0	0	0	1	0	26	107					A	31016139	G	A	31016139	3	1	79	1	0	0	0	0	1	0	0	0	6402	1087	38	1	1152	1	GHRHR	7	31016139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139766	31016139	128122524	8273	18590											
NEUROD6	63974	broad.mit.edu	37	chr7	31378244	31378244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagtggtgagctcaggGctgtggtagggtgggtagaa	23	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	213					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAGCTCAGGGCTGTGGTAGG	0.527																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(637-639)agC>agT		neuronal differentiation 6							125	97	106					7																	31378244		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378244G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.639C>T	7.37:g.31378244G>A							p.S213S	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	961	-			213					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.639C>T	CCDS5434.1																																																																																				0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		82	395	0	0	0	1	0	82	395					A	31378244	G	A	31378244	2	1	79	1	0	0	0	0	0	0	0	1	10393	1194	42	2		2	NEUROD6	7	31378244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362105	31378244	127760419	8274	18591											
NEUROD6	63974	broad.mit.edu	37	chr7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagatgtagtttttggCcagtcgtaaagtctctattt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	139	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTTTTTGGCCAGTCGTAAA	0.458																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(415-417)Gcc>Acc		neuronal differentiation 6							71	75	74					7																	31378468		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378468C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.415G>A	7.37:g.31378468C>T	ENSP00000297142:p.Ala139Thr						p.A139T	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	737	-			139			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.415G>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109882	0.77210	.	.	ENSG00000164600	ENST00000297142	D	0.99422	-5.88	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.87617	2.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.98231	1.0483	10	0.87932	D	0	-15.8261	18.86	0.92268	0.0:1.0:0.0:0.0	.	139	Q96NK8	NDF6_HUMAN	T	139	ENSP00000297142:A139T	ENSP00000297142:A139T	A	-	1	0	NEUROD6	31344993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.459000	0.83118	0.650000	0.86243	GCC		0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		12	395	0	0	0	1	0	12	395					T	31378468	C	T	31378468	3	4	79	1	0	0	0	0	1	0	0	0	10393	739	26	2	602	2	NEUROD6	7	31378468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	31378468	127760195	8275	18592											
CCDC129	223075	broad.mit.edu	37	chr7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctcatcttgcaggcaaagGaccagactcatttgaaatgg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000407970.3	+	8	1183	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V	CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.G290V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(868-870)gGa>gTa		coiled-coil domain containing 129							44	43	43					7																	31618023		1994	4171	6165	SO:0001583	missense	223075							g.chr7:31618023G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1145G>T	7.37:g.31618023G>T	ENSP00000384416:p.Gly382Val					CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G382V|CCDC129_ENST00000319386.3_Intron	p.G290V			Q6ZRS4	CC129_HUMAN			6	1053	+			382					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.869G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875476	0.51695	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.48;2.48;2.22	5.61	-0.895	0.10560	.	.	.	.	.	T	0.11410	0.0278	L	0.34521	1.04	0.21841	N	0.999514	B;B;B	0.20261	0.043;0.043;0.043	B;B;B	0.17433	0.018;0.018;0.018	T	0.36432	-0.9748	8	.	.	.	-7.5263	8.2676	0.31824	0.0886:0.5671:0.269:0.0752	.	408;392;382	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	382;408;392;290	ENSP00000384416:G382V;ENSP00000395835:G408V;ENSP00000387214:G290V	.	G	+	2	0	CCDC129	31584548	0.008000	0.16893	0.007000	0.13788	0.586000	0.36452	0.146000	0.16180	-0.381000	0.07882	0.655000	0.94253	GGA		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		36	179	1	0	3.33393e-15	1	3.63836e-15	36	179					T	31618023	G	T	31618023	3	4	79	1	0	0	0	0	1	0	0	0	2771	1174	41	3	1171	3	CCDC129	7	31618023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239555	31618023	127520640	8276	18593											
CCDC129	223075	broad.mit.edu	37	chr7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C													acagatgccttccttgccaaAcagccagagtcctgctgaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000407970.3	+	11	1366	c.1328A>C	c.(1327-1329)aAc>aCc	p.N443T	CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T|CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(883-885)aAc>aCc		coiled-coil domain containing 129							56	50	52					7																	31682312		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682312A>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1328A>C	7.37:g.31682312A>C	ENSP00000384416:p.Asn443Thr					CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000407970.3_Missense_Mutation_p.N443T	p.N295T			Q6ZRS4	CC129_HUMAN			11	1877	+			443					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.884A>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	7.414	0.635297	0.14322	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17528	2.38;2.53;2.52;2.27	5.85	1.76	0.24704	.	0.781097	0.12237	N	0.486848	T	0.06234	0.0161	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.002;0.0;0.0;0.009	B;B;B;B	0.15870	0.004;0.001;0.001;0.014	T	0.43702	-0.9375	10	0.12766	T	0.61	-6.1587	6.3356	0.21294	0.2524:0.1471:0.6005:0.0	.	469;453;443;295	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	295;443;469;453;351	ENSP00000313062:N295T;ENSP00000384416:N443T;ENSP00000395835:N469T;ENSP00000387214:N351T	ENSP00000313062:N295T	N	+	2	0	CCDC129	31648837	0.016000	0.18221	0.194000	0.23346	0.007000	0.05969	0.518000	0.22847	0.405000	0.25532	-0.987000	0.02553	AAC		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		35	176	0	0	0	1	0	35	176					C	31682312	A	C	31682312	3	2	79	1	0	0	0	0	1	0	0	0	2771	43	2	4	1366	4	CCDC129	7	31682312	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64289	31682312	127456351	8277	18594	113	2									
CCDC129	223075	broad.mit.edu	37	chr7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T													ttccttgccaaacagccagaGtcctgctgagaatggaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000407970.3	+	11	1375	c.1337G>T	c.(1336-1338)aGt>aTt	p.S446I	CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I|CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(892-894)aGt>aTt		coiled-coil domain containing 129							60	54	56					7																	31682321		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682321G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1337G>T	7.37:g.31682321G>T	ENSP00000384416:p.Ser446Ile					CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000407970.3_Missense_Mutation_p.S446I	p.S298I			Q6ZRS4	CC129_HUMAN			11	1886	+			446					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.893G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976069	0.53720	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29397	1.57;2.17;2.16;1.91	5.85	4.05	0.47172	.	0.307115	0.28815	N	0.014044	T	0.48502	0.1503	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.70716	0.97;0.868;0.79;0.787	T	0.34229	-0.9837	10	0.87932	D	0	-19.9654	8.1795	0.31302	0.1767:0.0:0.8233:0.0	.	472;456;446;298	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	298;446;472;456;354	ENSP00000313062:S298I;ENSP00000384416:S446I;ENSP00000395835:S472I;ENSP00000387214:S354I	ENSP00000313062:S298I	S	+	2	0	CCDC129	31648846	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	0.635000	0.24629	1.487000	0.48415	0.585000	0.79938	AGT		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		20	215	1	0	3.51602e-12	1	3.76992e-12	20	215					T	31682321	G	T	31682321	3	4	79	1	0	0	0	0	1	0	0	0	2771	1029	36	3	1375	3	CCDC129	7	31682321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	31682321	127456342	8278	18595	113	2									
CCDC129	223075	broad.mit.edu	37	chr7	31682385	31682385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttagtatcatcccaggaCtgtcagctagagtcggatgg	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000407970.3	+	11	1439	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000319386.3_Silent_p.D319D|CCDC129_ENST00000409210.1_Silent_p.D375D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(955-957)gaC>gaT		coiled-coil domain containing 129							86	84	84					7																	31682385		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682385C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1401C>T	7.37:g.31682385C>T						CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000407970.3_Silent_p.D467D	p.D319D			Q6ZRS4	CC129_HUMAN			11	1950	+			467					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.957C>T	CCDS5435.2																																																																																				0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		70	310	0	0	0	1	0	70	310					T	31682385	C	T	31682385	2	4	79	1	0	0	0	0	0	0	0	1	2771	564	20	2		2	CCDC129	7	31682385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	31682385	127456278	8279	18596											
AVL9	23080	broad.mit.edu	37	chr7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattttgtttctgcatccaCtgctgatgtttcacatacca	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	266					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(796-798)aCt>aTt		AVL9 homolog (S. cerevisiase)							89	84	86					7																	32598658		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598658C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.797C>T	7.37:g.32598658C>T	ENSP00000315568:p.Thr266Ile					AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			10	1018	+			266					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.797C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063590	0.07273	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46819	0.93;0.93;0.88;0.86	5.21	2.41	0.29592	.	0.540486	0.20014	N	0.101063	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.24317	0.101;0.009;0.011	B;B;B	0.21917	0.037;0.008;0.009	T	0.26087	-1.0113	10	0.56958	D	0.05	-17.5432	10.5606	0.45144	0.0:0.7882:0.0:0.2118	.	266;266;266	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	266;266;266;266;197	ENSP00000315568:T266I;ENSP00000387011:T266I;ENSP00000385242:T266I;ENSP00000395134:T197I	ENSP00000315568:T266I	T	+	2	0	AVL9	32565183	0.004000	0.15560	0.009000	0.14445	0.005000	0.04900	0.044000	0.13992	0.794000	0.33899	0.591000	0.81541	ACT		0.458	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		49	195	0	0	0	1	0	49	195					T	32598658	C	T	32598658	3	4	79	1	0	0	0	0	1	0	0	0	1229	565	20	2	835	2	AVL9	7	32598658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	916273	32598658	126540005	8280	18597											
KBTBD2	25948	broad.mit.edu	37	chr7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaattctgatttggctaaGaacagaagacaaatactggg	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(649-651)Ctt>Ttt		kelch repeat and BTB (POZ) domain containing 2							107	104	105					7																	32910180		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32910180G>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.649C>T	7.37:g.32910180G>A	ENSP00000302586:p.Leu217Phe					AVL9_ENST00000404479.1_Intron	p.L217F	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1348	-			217					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.649C>T	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485055	0.26598	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.77489	-1.1	5.72	5.72	0.89469	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82967	-0.0194	10	0.36615	T	0.2	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	217	Q8IY47	KBTB2_HUMAN	F	217;24	ENSP00000302586:L217F	ENSP00000302586:L217F	L	-	1	0	KBTBD2	32876705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CTT		0.413	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		29	336	0	0	0	1	0	29	336					A	32910180	G	A	32910180	3	1	79	1	0	0	0	0	1	0	0	0	8023	942	33	2	1226	2	KBTBD2	7	32910180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311522	32910180	126228483	8281	18598											
NT5C3	51251	broad.mit.edu	37	chr7	33057137	33057137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataacttcctctagtacatCgccgattccagccgaaaata	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:33057137C>T	ENST00000242210.7	-	7	698	c.622G>A	c.(622-624)Gat>Aat	p.D208N	NT5C3A_ENST00000396152.2_Missense_Mutation_p.D169N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D157N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D157N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D203N|NT5C3A_ENST00000409787.1_Missense_Mutation_p.D169N	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	208					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TCTAGTACATCGCCGATTCCA	0.373																																						ENST00000396152.2																			0											c.(505-507)Gat>Aat		5'-nucleotidase, cytosolic IIIA							126	121	122					7																	33057137		2203	4300	6503	SO:0001583	missense	51251							g.chr7:33057137C>T	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.622G>A	7.37:g.33057137C>T	ENSP00000242210:p.Asp208Asn					NT5C3A_ENST00000409787.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D157N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D157N|NT5C3A_ENST00000242210.7_Missense_Mutation_p.D208N|AVL9_ENST00000404479.1_Intron	p.D169N	NM_016489.12	NP_057573.2					8	807	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.505G>A	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549660	0.45383	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.19	4.32	0.51571	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84783	0.0774	10	0.22109	T	0.4	.	13.8255	0.63348	0.0:0.9262:0.0:0.0738	.	208;169	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	N	157;169;208;169;157;169	ENSP00000371039:D157N;ENSP00000379456:D169N;ENSP00000242210:D208N;ENSP00000385261:D169N;ENSP00000387166:D157N;ENSP00000387205:D169N	ENSP00000242210:D208N	D	-	1	0	NT5C3	33023662	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	7.818000	0.86416	1.186000	0.42985	0.655000	0.94253	GAT		0.373	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		79	351	0	0	0	1	0	79	351					T	33057137	C	T	33057137	3	4	79	1	0	0	0	0	1	0	0	0	10730	884	31	1	400	1	NT5C3	7	33057137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146957	33057137	126081526	8282	18599											
BMPER	168667	broad.mit.edu	37	chr7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagggcaaaattctcaacaGaaaaggatgctgtcctattt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	350	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1048-1050)aGa>aAa		BMP binding endothelial regulator							92	88	90					7																	34101630		2203	4299	6502	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34101630G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1049G>A	7.37:g.34101630G>A	ENSP00000297161:p.Arg350Lys					BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			12	1423	+			350			VWFC 5.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1049G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262841	0.39995	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	6.06	5.18	0.71444	von Willebrand factor, type C (4);	0.085942	0.85682	N	0.000000	T	0.48804	0.1520	L	0.45228	1.405	0.50813	D	0.999896	B	0.31026	0.304	B	0.26614	0.071	T	0.43861	-0.9365	10	0.05721	T	0.95	.	14.8026	0.69926	0.0684:0.0:0.9316:0.0	.	350	Q8N8U9	BMPER_HUMAN	K	350	ENSP00000297161:R350K;ENSP00000393950:R350K	ENSP00000297161:R350K	R	+	2	0	BMPER	34068155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.324000	0.72896	2.880000	0.98712	0.650000	0.86243	AGA		0.289	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		16	90	0	0	0	1	0	16	90					A	34101630	G	A	34101630	3	1	79	1	0	0	0	0	1	0	0	0	1470	942	33	2	1091	2	BMPER	7	34101630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044493	34101630	125037033	8283	18600											
BMPER	168667	broad.mit.edu	37	chr7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcccggcgtttgcacggTgtttggagatccccactaca	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	366	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1096-1098)gTg>gCg		BMP binding endothelial regulator							70	74	73					7																	34118487		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118487T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1097T>C	7.37:g.34118487T>C	ENSP00000297161:p.Val366Ala					BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1471	+			366			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1097T>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519696	0.85495	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.63417	-0.04;-0.04	5.97	5.97	0.96955	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.25245	0.725	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.61618	-0.7026	10	0.15952	T	0.53	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	366	Q8N8U9	BMPER_HUMAN	A	366	ENSP00000297161:V366A;ENSP00000393950:V366A	ENSP00000297161:V366A	V	+	2	0	BMPER	34085012	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTG		0.537	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		89	441	0	0	0	1	0	89	441					C	34118487	T	C	34118487	3	2	79	1	0	0	0	0	1	0	0	0	1470	1696	59	4	1143	4	BMPER	7	34118487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16857	34118487	125020176	8284	18601											
TBX20	57057	broad.mit.edu	37	chr7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaccggtaaaaggagaatCtggatgcacatagagcctaa	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	188					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(562-564)Gat>Tat		T-box 20							113	97	102					7																	35284653		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35284653C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.562G>T	7.37:g.35284653C>A	ENSP00000386170:p.Asp188Tyr						p.D188Y	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			4	1088	-			188					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.562G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924360	0.52653	.	.	ENSG00000164532	ENST00000408931	D	0.91521	-2.86	5.19	5.19	0.71726	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.7096	0.91651	0.0:1.0:0.0:0.0	.	188	Q9UMR3	TBX20_HUMAN	Y	188	ENSP00000386170:D188Y	ENSP00000386170:D188Y	D	-	1	0	TBX20	35251178	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	7.818000	0.86416	2.427000	0.82271	0.491000	0.48974	GAT		0.368	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		23	97	1	0	5.35356e-11	1	5.69577e-11	23	97					A	35284653	C	A	35284653	3	1	79	1	0	0	0	0	1	0	0	0	15708	913	32	3	802	3	TBX20	7	35284653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1166166	35284653	123854010	8285	18602											
TBX20	57057	broad.mit.edu	37	chr7	35293166	35293166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgccgctcgacatgagCgcggcaatggagaaggcgtt	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	22					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(64-66)gcG>gcA		T-box 20							44	44	44					7																	35293166		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35293166C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.66G>A	7.37:g.35293166C>T							p.A22A	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			1	592	-			22					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.66G>A	CCDS43568.1																																																																																				0.657	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		37	169	0	0	0	1	0	37	169					T	35293166	C	T	35293166	2	4	79	1	0	0	0	0	0	0	0	1	15708	755	27	1		1	TBX20	7	35293166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8513	35293166	123845497	8286	18603											
EEPD1	80820	broad.mit.edu	37	chr7	36194638	36194638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctggacctgccgccAggggggcccacccagattat	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	235					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(703-705)ccA>ccG		endonuclease/exonuclease/phosphatase family domain containing 1							37	41	40					7																	36194638		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36194638A>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.705A>G	7.37:g.36194638A>G						EEPD1_ENST00000534978.1_Silent_p.P235P	p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	1423	+			235					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.705A>G	CCDS34619.1																																																																																				0.667	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		43	204	0	0	0	1	0	43	204					G	36194638	A	G	36194638	2	3	79	1	0	0	0	0	0	0	0	1	4948	175	7	4		4	EEPD1	7	36194638	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	901472	36194638	122944025	8287	18604											
EEPD1	80820	broad.mit.edu	37	chr7	36324351	36324351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcatggagctgagagaCgcgggttcacaggagagctc	17	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	366					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1096-1098)gaC>gaT		endonuclease/exonuclease/phosphatase family domain containing 1							69	78	75					7																	36324351		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36324351C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1098C>T	7.37:g.36324351C>T						EEPD1_ENST00000534978.1_Silent_p.D366D	p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			5	1816	+			366					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.1098C>T	CCDS34619.1																																																																																				0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		158	652	0	0	0	1	0	158	652					T	36324351	C	T	36324351	2	4	79	1	0	0	0	0	0	0	0	1	4948	535	19	1		1	EEPD1	7	36324351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129713	36324351	122814312	8288	18605											
EEPD1	80820	broad.mit.edu	37	chr7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggattttggccaagggCcagacagcaatgactatgat	13	7	0	3	rs201649550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	453					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21166	0.001		0.0	False		,,,				2504	0.0					ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1357-1359)Cca>Tca		endonuclease/exonuclease/phosphatase family domain containing 1							106	102	103					7																	36336643		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36336643C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1357C>T	7.37:g.36336643C>T	ENSP00000242108:p.Pro453Ser					EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			7	2075	+			453					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1357C>T	CCDS34619.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.646501	0.67358	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95788	-3.81;-3.81	5.09	5.09	0.68999	Endonuclease/exonuclease/phosphatase (2);	0.107611	0.64402	D	0.000004	D	0.95934	0.8676	L	0.59436	1.845	0.58432	D	0.999998	P	0.52692	0.955	P	0.54889	0.763	D	0.95557	0.8626	10	0.54805	T	0.06	-11.2339	14.9567	0.71120	0.0:0.8572:0.1428:0.0	.	453	Q7L9B9	EEPD1_HUMAN	S	453	ENSP00000242108:P453S;ENSP00000442692:P453S	ENSP00000242108:P453S	P	+	1	0	EEPD1	36303168	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.650000	0.61440	2.759000	0.94783	0.555000	0.69702	CCA		0.468	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		51	200	0	0	0	1	0	51	200					T	36336643	C	T	36336643	3	4	79	1	0	0	0	0	1	0	0	0	4948	739	26	2	1379	2	EEPD1	7	36336643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	36336643	122802020	8289	18606											
KIAA0895	23366	broad.mit.edu	37	chr7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctactcaccttcccgAgagcagtcagcagatggaag	11	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000297063.6	-	6	1447	c.1397T>G	c.(1396-1398)cTc>cGc	p.L466R	KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000480192.1_5'Flank	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1243-1245)cTc>cGc		KIAA0895							122	116	118					7																	36370598		1938	4137	6075	SO:0001583	missense	23366							g.chr7:36370598A>C	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1397T>G	7.37:g.36370598A>C	ENSP00000297063:p.Leu466Arg					KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000297063.6_Missense_Mutation_p.L466R	p.L415R	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			5	1544	-			466					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1244T>G	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368208	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.35	5.35	0.76521	.	0.067296	0.64402	D	0.000009	T	0.77857	0.4193	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D	0.76494	0.738;0.997;0.999;0.999;0.999	B;D;D;D;D	0.75020	0.289;0.966;0.985;0.956;0.956	T	0.80677	-0.1276	9	0.87932	D	0	3.9199	15.4939	0.75634	1.0:0.0:0.0:0.0	.	463;363;466;453;415	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	R	466;453;415;463;363;221	.	ENSP00000297063:L466R	L	-	2	0	KIAA0895	36337123	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	8.438000	0.90305	2.243000	0.73865	0.482000	0.46254	CTC		0.463	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		68	319	0	0	0	1	0	68	319					C	36370598	A	C	36370598	3	2	79	1	0	0	0	0	1	0	0	0	8227	304	11	4	173	4	KIAA0895	7	36370598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33955	36370598	122768065	8290	18607											
KIAA0895	23366	broad.mit.edu	37	chr7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacctggttgggaagtatCagtccatcccctcttggccc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000297063.6	-	5	1341	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1138-1140)Gat>Tat		KIAA0895							87	87	87					7																	36373480		1889	4114	6003	SO:0001583	missense	23366							g.chr7:36373480C>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1291G>T	7.37:g.36373480C>A	ENSP00000297063:p.Asp431Tyr					KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000297063.6_Missense_Mutation_p.D431Y|KIAA0895_ENST00000480192.1_5'UTR	p.D380Y	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			4	1438	-			431					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1138G>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604059	0.87157	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.958;0.933	D	0.85507	0.1195	9	0.87932	D	0	-21.055	18.7786	0.91922	0.0:1.0:0.0:0.0	.	428;328;431;418;380	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Y	431;418;380;428;328;186	.	ENSP00000297063:D431Y	D	-	1	0	KIAA0895	36340005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.515000	0.84797	0.655000	0.94253	GAT		0.413	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		28	357	1	0	4.87955e-14	1	5.28594e-14	28	357					A	36373480	C	A	36373480	3	1	79	1	0	0	0	0	1	0	0	0	8227	826	29	3	283	3	KIAA0895	7	36373480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2882	36373480	122765183	8291	18608											
ANLN	54443	broad.mit.edu	37	chr7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgtctttggttaatGcctcaatttccagctctgtg	9	9	3	1	rs188228038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	285	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(853-855)Gcc>Acc		anillin, actin binding protein							236	227	230					7																	36446155		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36446155G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.853G>A	7.37:g.36446155G>A	ENSP00000265748:p.Ala285Thr					ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			4	1074	+			285			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.853G>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317863	0.40996	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04970	3.52;3.52	4.2	4.2	0.49525	.	1.274390	0.04880	N	0.447517	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18013	0.025;0.004;0.008;0.004	B;B;B;B	0.18561	0.022;0.005;0.011;0.005	T	0.38286	-0.9668	10	0.15952	T	0.53	-0.0437	12.2415	0.54544	0.0:0.0:0.7926:0.2074	.	162;285;285;285	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	285	ENSP00000265748:A285T;ENSP00000379380:A285T	ENSP00000265748:A285T	A	+	1	0	ANLN	36412680	0.149000	0.22717	0.010000	0.14722	0.936000	0.57629	3.623000	0.54224	2.634000	0.89283	0.650000	0.86243	GCC		0.418	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		201	956	0	0	0	1	0	201	956					A	36446155	G	A	36446155	3	1	79	1	0	0	0	0	1	0	0	0	694	1319	46	2	867	2	ANLN	7	36446155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72675	36446155	122692508	8292	18609											
ANLN	54443	broad.mit.edu	37	chr7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttttccaggcaagatGtatccaatgactttgaaata	6	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	871	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2611-2613)Gta>Ata		anillin, actin binding protein							59	63	62					7																	36464161		2203	4297	6500	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36464161G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2611G>A	7.37:g.36464161G>A	ENSP00000265748:p.Val871Ile					ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	p.V871I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			16	2832	+			871			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2611G>A	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.811120|4.811120|4.811120	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000446635;ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.39997	.|.|1.05;1.05	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.59742|0.59742|0.59742	0.2216|0.2216|0.2216	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;P;P	.|.|0.89917	.|.|1.0;0.937;0.923;0.937	.|.|D;P;P;P	.|.|0.87578	.|.|0.998;0.705;0.58;0.705	T|T|T	0.54268|0.54268|0.54268	-0.8319|-0.8319|-0.8319	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	-13.8711|-13.8711|-13.8711	18.6005|18.6005|18.6005	0.91247|0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|748;833;834;871	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Y|I|I	35|224;74|871;834	.|.|ENSP00000265748:V871I;ENSP00000379380:V834I	.|.|ENSP00000265748:V871I	C|M|V	+|+|+	2|3|1	0|0|0	ANLN|ANLN|ANLN	36430686|36430686|36430686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.776000|6.776000|6.776000	0.75023|0.75023|0.75023	2.741000|2.741000|2.741000	0.93983|0.93983|0.93983	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TGT|ATG|GTA		0.294	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		15	117	0	0	0	1	0	15	117					A	36464161	G	A	36464161	3	1	79	1	0	0	0	0	1	0	0	0	694	1377	48	2	2673	2	ANLN	7	36464161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18006	36464161	122674502	8293	18610											
ANLN	54443	broad.mit.edu	37	chr7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaatgcagggacacaCtctgtgttaccaagtatgta	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1080	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(3238-3240)Ctc>Atc		anillin, actin binding protein							85	79	81					7																	36489433		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36489433C>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3238C>A	7.37:g.36489433C>A	ENSP00000265748:p.Leu1080Ile					ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	p.L1080I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			23	3459	+			1080			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.3238C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911644	0.72983	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13538	2.58;2.6	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121557	0.56097	D	0.000025	T	0.26702	0.0653	N	0.25890	0.77	0.54753	D	0.999981	D;P;P;P	0.67145	0.996;0.631;0.577;0.631	D;P;B;P	0.80764	0.994;0.579;0.443;0.579	T	0.01301	-1.1391	10	0.44086	T	0.13	-8.1585	18.4774	0.90798	0.0:1.0:0.0:0.0	.	957;1042;1043;1080	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	I	1080;1043	ENSP00000265748:L1080I;ENSP00000379380:L1043I	ENSP00000265748:L1080I	L	+	1	0	ANLN	36455958	0.906000	0.30813	0.923000	0.36655	0.973000	0.67179	1.935000	0.40173	2.665000	0.90641	0.655000	0.94253	CTC		0.393	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		58	228	1	0	8.72158e-25	1	9.98758e-25	58	228					A	36489433	C	A	36489433	3	1	79	1	0	0	0	0	1	0	0	0	694	565	20	3	3328	3	ANLN	7	36489433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	36489433	122649230	8294	18611											
ELMO1	9844	broad.mit.edu	37	chr7	36895162	36895162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggccacttcagttAcagtcatagacgaagtcata	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	ENST00000310758.4	-	22	2825	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	726					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CACTTCAGTTACAGTCATAGA	0.542																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(2176-2178)tgT>tgC		engulfment and cell motility 1							112	114	113					7																	36895162		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895162A>G	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2178T>C	7.37:g.36895162A>G						ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000341056.3_Silent_p.C428C	p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			22	2825	-			726					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.2178T>C	CCDS5449.1																																																																																				0.542	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		23	571	0	0	0	1	0	23	571					G	36895162	A	G	36895162	2	3	79	1	0	0	0	0	0	0	0	1	5083	389	14	4		4	ELMO1	7	36895162	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405729	36895162	122243501	8295	18612											
ELMO1	9844	broad.mit.edu	37	chr7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcttgtcaggagcgatgAagttcagttggcagtttgag	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	654	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGAGCGATGAAGTTCAGTTG	0.388																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1960-1962)tTc>tGc		engulfment and cell motility 1							175	169	171					7																	36901286		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36901286A>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1961T>G	7.37:g.36901286A>C	ENSP00000312185:p.Phe654Cys					ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C	p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			21	2608	-			654			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1961T>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516722	0.85495	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	P	0.59643	0.861	D	0.84087	0.0388	10	0.66056	D	0.02	.	15.7652	0.78120	1.0:0.0:0.0:0.0	.	654	Q92556	ELMO1_HUMAN	C	356;174;654;558;174;654;654	ENSP00000342142:F356C;ENSP00000379360:F174C;ENSP00000312185:F654C;ENSP00000379355:F174C;ENSP00000406952:F654C;ENSP00000394458:F654C	ENSP00000312185:F654C	F	-	2	0	ELMO1	36867811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTC		0.388	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		154	617	0	0	0	1	0	154	617					C	36901286	A	C	36901286	3	2	79	1	0	0	0	0	1	0	0	0	5083	246	9	4	230	4	ELMO1	7	36901286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6124	36901286	122237377	8296	18613											
ELMO1	9844	broad.mit.edu	37	chr7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgctgcaggatcgagatgTctatggctgacttgttcaca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	194					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCGAGATGTCTATGGCTGA	0.502																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(580-582)gAc>gTc		engulfment and cell motility 1							105	90	95					7																	37264604		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264604T>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.581A>T	7.37:g.37264604T>A	ENSP00000312185:p.Asp194Val					ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			9	1228	-			194					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.581A>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627058	0.87560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.56275	0.47;0.47;0.47	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76926	-0.2778	10	0.72032	D	0.01	.	15.7355	0.77839	0.0:0.0:0.0:1.0	.	194	Q92556	ELMO1_HUMAN	V	194;98;194;194	ENSP00000312185:D194V;ENSP00000406952:D194V;ENSP00000394458:D194V	ENSP00000312185:D194V	D	-	2	0	ELMO1	37231129	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	8.036000	0.88901	2.175000	0.68902	0.533000	0.62120	GAC		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		34	182	0	0	0	1	0	34	182					A	37264604	T	A	37264604	3	1	79	1	0	0	0	0	1	0	0	0	5083	1667	58	5	1658	5	ELMO1	7	37264604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	363318	37264604	121874059	8297	18614											
GPR141	353345	broad.mit.edu	37	chr7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtgaaaatgaacaccCggtcagtgaccaccatggcg	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R48R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488																																						ENST00000447769.1																			1	Substitution - coding silent(1)	p.R48R(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(142-144)Cgg>Tgg		G protein-coupled receptor 141							101	104	103					7																	37780137		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780137C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.142C>T	7.37:g.37780137C>T	ENSP00000390410:p.Arg48Trp					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|EPDR1_ENST00000476620.1_Intron	p.R48W			Q7Z602	GP141_HUMAN			4	431	+			48					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.142C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346981	0.41599	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.45276	0.9;0.9;0.9	5.18	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.403678	0.24384	N	0.038998	T	0.33818	0.0876	M	0.68952	2.095	0.09310	N	1	P	0.49090	0.919	B	0.37833	0.259	T	0.24728	-1.0152	10	0.30854	T	0.27	-16.3663	7.0848	0.25252	0.3405:0.5746:0.0:0.0849	.	48	Q7Z602	GP141_HUMAN	W	48	ENSP00000396300:R48W;ENSP00000390410:R48W;ENSP00000334540:R48W	ENSP00000334540:R48W	R	+	1	2	GPR141	37746662	0.010000	0.17322	0.979000	0.43373	0.993000	0.82548	0.413000	0.21148	1.249000	0.43950	0.650000	0.86243	CGG		0.488	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		14	431	0	0	0	1	0	14	431					T	37780137	C	T	37780137	3	4	79	1	0	0	0	0	1	0	0	0	6678	643	23	1	144	1	GPR141	7	37780137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515533	37780137	121358526	8298	18615											
TXNDC3	51314	broad.mit.edu	37	chr7	37927933	37927933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaccagttgtatggcagCgattcattagaaaccgctga	10	9	2	2	rs369550926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37927933C>T	ENST00000199447.4	+	15	1674	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	NME8_ENST00000440017.1_Silent_p.S434S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	434	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTATGGCAGCGATTCATTAG	0.393																																						ENST00000199447.4																			0											c.(1300-1302)agC>agT		NME/NM23 family member 8		C		0,4406		0,0,2203	97	93	94		1302	-2.2	0	7		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TXNDC3	NM_016616.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		434/589	37927933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927933C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1302C>T	7.37:g.37927933C>T						NME8_ENST00000440017.1_Silent_p.S434S|EPDR1_ENST00000476620.1_Intron	p.S434S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			15	1674	+			434			NDK 2.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.1302C>T	CCDS5452.1																																																																																				0.393	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		8	326	0	0	0	1	0	8	326					T	37927933	C	T	37927933	2	4	79	1	0	0	0	0	0	0	0	1	16852	767	27	1		1	TXNDC3	7	37927933	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147796	37927933	121210730	8299	18616											
SFRP4	6424	broad.mit.edu	37	chr7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcacagaggaagaagcGcagcacggcgctgcagttca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	74	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(220-222)Cgc>Tgc		secreted frizzled-related protein 4							146	116	126					7																	37955920		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955920G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.220C>T	7.37:g.37955920G>A	ENSP00000410715:p.Arg74Cys					EPDR1_ENST00000476620.1_Intron	p.R74C	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	597	-			74			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.220C>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922280	0.73213	.	.	ENSG00000106483	ENST00000436072	T	0.76839	-1.05	4.36	4.36	0.52297	Frizzled domain (5);	0.129212	0.53938	D	0.000042	D	0.85383	0.5684	M	0.78801	2.425	0.41915	D	0.990483	D	0.69078	0.997	P	0.61592	0.891	D	0.87268	0.2284	10	0.66056	D	0.02	.	12.3128	0.54938	0.0:0.1722:0.8278:0.0	.	74	Q6FHJ7	SFRP4_HUMAN	C	74	ENSP00000410715:R74C	ENSP00000410715:R74C	R	-	1	0	SFRP4	37922445	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.048000	0.49862	2.251000	0.74343	0.650000	0.86243	CGC		0.637	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		38	283	0	0	0	1	0	38	283					A	37955920	G	A	37955920	3	1	79	1	0	0	0	0	1	0	0	0	14213	1087	38	1	844	1	SFRP4	7	37955920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27987	37955920	121182743	8300	18617											
EPDR1	54749	broad.mit.edu	37	chr7	37988649	37988649	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagaaagtcagctagatcCtgtaagggttcaaagaatct	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.477C>A	c.(475-477)tcC>tcA	p.S159S	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Splice_Site_p.S279S|EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000476620.1_Splice_Site_p.S57S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	159					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.e2+1		ependymin related 1							53	55	54					7																	37988649		2203	4300	6503	SO:0001630	splice_region_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988649C>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.478+1C>A	7.37:g.37988649C>A						EPDR1_ENST00000559325.1_Splice_Site_p.S279_splice|EPDR1_ENST00000425345.1_Splice_Site_p.S98_splice|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57_splice	p.S159_splice	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	856	+			159					A8K4C0|C9JYS3|Q06BL0|Q99M77	Splice_Site	SNP	ENST00000199448.4	37	c.478_splice	CCDS5454.2																																																																																				0.463	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	Silent	66	251	1	0	4.13886e-29	1	4.83036e-29	66	251					A	37988649	C	A	37988649	5	1	79	1	0	0	0	0	0	0	1	0	5181	695	24	3	843	3	EPDR1	7	37988649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32729	37988649	121150014	8301	18618											
STARD3NL	83930	broad.mit.edu	37	chr7	38254645	38254645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcttctggcagtttttcGatttaaagtgttaatacttg	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	ENST00000009041.7	+	4	577	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	107	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GCAGTTTTTCGATTTAAAGTG	0.403																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(319-321)cGa>cAa		STARD3 N-terminal like							117	105	109					7																	38254645		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38254645G>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.320G>A	7.37:g.38254645G>A	ENSP00000009041:p.Arg107Gln					STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			4	577	+			107			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.320G>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193617	0.94960	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.06	0.68205	MENTAL domain (2);	0.055444	0.64402	N	0.000001	T	0.81772	0.4893	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85473	0.1174	10	0.87932	D	0	-3.4597	13.9587	0.64166	0.0737:0.0:0.9263:0.0	.	107;107	C9JKL2;O95772	.;MENTO_HUMAN	Q	107;100;107;107;107;107;107	ENSP00000009041:R107Q;ENSP00000439436:R100Q;ENSP00000394000:R107Q;ENSP00000379334:R107Q;ENSP00000411933:R107Q;ENSP00000395455:R107Q;ENSP00000402028:R107Q	ENSP00000009041:R107Q	R	+	2	0	STARD3NL	38221170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.428000	0.97476	1.514000	0.48869	0.643000	0.83706	CGA		0.403	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			49	216	0	0	0	1	0	49	216					A	38254645	G	A	38254645	3	1	79	1	0	0	0	0	1	0	0	0	15310	1058	37	1	330	1	STARD3NL	7	38254645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265996	38254645	120884018	8302	18619											
AMPH	273	broad.mit.edu	37	chr7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcaggtgtcacctcgGgcttgaaaggatcaaagtcc	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	361					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1081-1083)cCc>cTc		amphiphysin							85	76	79					7																	38475924		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475924G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1082C>T	7.37:g.38475924G>A	ENSP00000348602:p.Pro361Leu					AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			12	1297	-			361					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1082C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	4.65	0.58169	.	0.185220	0.47852	D	0.000205	D	0.82453	0.5040	M	0.70275	2.135	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.903	D;D;B	0.91635	0.999;0.999;0.351	D	0.83511	0.0080	10	0.56958	D	0.05	-7.7829	14.7794	0.69754	0.0705:0.0:0.9295:0.0	.	361;361;117	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	361;361;361;131;364	ENSP00000317441:P361L;ENSP00000348602:P361L;ENSP00000390734:P361L	ENSP00000317441:P361L	P	-	2	0	AMPH	38442449	1.000000	0.71417	0.961000	0.40146	0.733000	0.41908	5.157000	0.64911	2.609000	0.88269	0.655000	0.94253	CCC		0.433	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		37	181	0	0	0	1	0	37	181					A	38475924	G	A	38475924	3	1	79	1	0	0	0	0	1	0	0	0	588	1232	43	2	1045	2	AMPH	7	38475924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221279	38475924	120662739	8303	18620											
AMPH	273	broad.mit.edu	37	chr7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgaggccgtgctggtgCgggagacgcaggtgctaatg	18	9	0	2	rs368302578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A287T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGTGCTGGTGCGGGAGACGCA	0.547																																						ENST00000356264.2																			1	Substitution - Missense(1)	p.A287T(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(859-861)Gca>Aca		amphiphysin		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	160	150	153		859,859	5.3	1	7		153	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/696,287/654	38502604	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502604C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.859G>A	7.37:g.38502604C>T	ENSP00000348602:p.Ala287Thr					AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			10	1074	-			287					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.859G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	AMPH|AMPH	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		104	457	0	0	0	1	0	104	457					T	38502604	C	T	38502604	3	4	79	1	0	0	0	0	1	0	0	0	588	768	27	1	1276	1	AMPH	7	38502604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26680	38502604	120636059	8304	18621											
AMPH	273	broad.mit.edu	37	chr7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacattacctttgattgctgCtaaatatcctcggagttctc	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	65	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(193-195)Gca>Tca		amphiphysin							229	191	204					7																	38543262		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38543262C>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.193G>T	7.37:g.38543262C>A	ENSP00000348602:p.Ala65Ser					AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			3	408	-			65			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.193G>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089838	0.55968	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.62639	0.01;0.01;0.01	5.92	5.04	0.67666	BAR (3);	0.184681	0.47455	D	0.000226	T	0.57051	0.2027	L	0.36672	1.1	0.44485	D	0.997425	B;B	0.25850	0.054;0.136	B;B	0.39531	0.139;0.302	T	0.50516	-0.8819	10	0.15499	T	0.54	-13.998	12.5297	0.56106	0.0:0.9217:0.0:0.0783	.	65;65	P49418-2;P49418	.;AMPH_HUMAN	S	65	ENSP00000317441:A65S;ENSP00000348602:A65S;ENSP00000390734:A65S	ENSP00000317441:A65S	A	-	1	0	AMPH	38509787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	1.513000	0.48852	0.655000	0.94253	GCA		0.378	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		32	430	1	0	5.90632e-09	1	6.19411e-09	32	430					A	38543262	C	A	38543262	3	1	79	1	0	0	0	0	1	0	0	0	588	797	28	3	1970	3	AMPH	7	38543262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40658	38543262	120595401	8305	18622											
CDK13	8621	broad.mit.edu	37	chr7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctctcgcagtccctacaGccctgtgctcaggtgagttc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_ENST00000340829.5_Missense_Mutation_p.S400I|RP11-467D6.1_ENST00000569710.1_RNA	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	400					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1198-1200)aGc>aTc		cyclin-dependent kinase 13							44	32	36					7																	39991439		1996	3992	5988	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:39991439G>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1199G>T	7.37:g.39991439G>T	ENSP00000181839:p.Ser400Ile					CDK13_ENST00000340829.5_Missense_Mutation_p.S400I	p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			1	1804	+			400					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1199G>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179393	0.38511	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	4.8	4.8	0.61643	.	.	.	.	.	T	0.66954	0.2842	L	0.36672	1.1	0.54753	D	0.999985	P;P	0.47677	0.899;0.838	P;P	0.51355	0.667;0.466	T	0.65134	-0.6242	8	.	.	.	-1.6856	16.4026	0.83647	0.0:0.0:1.0:0.0	.	400;400	Q14004-2;Q14004	.;CDK13_HUMAN	I	400	ENSP00000181839:S400I;ENSP00000340557:S400I	.	S	+	2	0	CDK13	39957964	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	7.157000	0.77461	2.343000	0.79666	0.563000	0.77884	AGC		0.662	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		46	272	1	0	5.82388e-19	1	6.47979e-19	46	272					T	39991439	G	T	39991439	3	4	79	1	0	0	0	0	1	0	0	0	3138	971	34	3	1201	3	CDK13	7	39991439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1448177	39991439	119147224	8306	18623											
C7orf10	79783	broad.mit.edu	37	chr7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttttttcttttagatcttgGatttgcctgagttgattgat	8	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000335693.4	+	11	939	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		306					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(916-918)Gat>Tat		chromosome 7 open reading frame 10							44	44	44					7																	40498706		1802	4066	5868	SO:0001583	missense	79783						transferase activity	g.chr7:40498706G>T																												ENST00000335693.4:c.916G>T	7.37:g.40498706G>T	ENSP00000338475:p.Asp306Tyr					C7orf10_ENST00000335693.4_Missense_Mutation_p.D306Y|C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y	p.D306Y	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			11	940	+			306					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.916G>T	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071975|2.071975	0.36566|0.36566	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.86694|.	-2.16;0.57;0.57|.	5.27|5.27	4.05|4.05	0.47172|0.47172	CoA-transferase family III domain (2);|.	0.510359|.	0.22065|.	N|.	0.065115|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33288|.	0.112;0.099;0.406|.	B;B;B|.	0.39738|.	0.106;0.106;0.308|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.87932|.	D|.	0|.	-7.2111|-7.2111	6.9227|6.9227	0.24397|0.24397	0.8767:0.0:0.1233:0.0|0.8767:0.0:0.1233:0.0	.|.	258;306;269|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	Y|C	306;258;306|300	ENSP00000312054:D306Y;ENSP00000385222:D258Y;ENSP00000338475:D306Y|.	ENSP00000312054:D306Y|.	D|W	+|+	1|3	0|0	C7orf10|C7orf10	40465231|40465231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.635000|2.635000	0.46537|0.46537	0.856000|0.856000	0.35383|0.35383	-0.345000|-0.345000	0.07892|0.07892	GAT|TGG		0.353	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			26	131	1	0	7.92952e-12	1	8.47903e-12	26	131					T	40498706	G	T	40498706	3	4	79	1	0	0	0	0	1	0	0	0	2383	1174	41	3	847	3	C7orf10	7	40498706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	507267	40498706	118639957	8307	18624											
GLI3	2737	broad.mit.edu	37	chr7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgcagaacccaaaggCgcgagtctgcggcacagcgg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1190					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3568-3570)Gcc>Acc		GLI family zinc finger 3							63	77	72					7																	42005103		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005103C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3568G>A	7.37:g.42005103C>T	ENSP00000379258:p.Ala1190Thr					GLI3_ENST00000479210.1_5'UTR	p.A1190T	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3652	-			1190					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3568G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693048	0.48202	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.57	5.57	0.84162	.	0.152938	0.64402	D	0.000016	T	0.10981	0.0268	L	0.38175	1.15	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.07908	-1.0748	10	0.02654	T	1	.	9.4972	0.38995	0.0:0.7812:0.1441:0.0747	.	1190	P10071	GLI3_HUMAN	T	1190	ENSP00000379258:A1190T	ENSP00000379258:A1190T	A	-	1	0	GLI3	41971628	0.170000	0.23016	0.039000	0.18376	0.212000	0.24457	0.601000	0.24119	2.610000	0.88304	0.563000	0.77884	GCC		0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		173	646	0	0	0	1	0	173	646					T	42005103	C	T	42005103	3	4	79	1	0	0	0	0	1	0	0	0	6468	768	27	1	1178	1	GLI3	7	42005103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1506397	42005103	117133560	8308	18625											
GLI3	2737	broad.mit.edu	37	chr7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcggcacagcgggccGcggcccacacttgagcttgg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1182W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - Missense(1)	p.R1182W(1)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3544-3546)Cgg>Tgg		GLI family zinc finger 3							71	86	81					7																	42005127		2203	4297	6500	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005127G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3544C>T	7.37:g.42005127G>A	ENSP00000379258:p.Arg1182Trp					GLI3_ENST00000479210.1_5'UTR	p.R1182W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3628	-			1182					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3544C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	GLI3	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		163	814	0	0	0	1	0	163	814					A	42005127	G	A	42005127	3	1	79	1	0	0	0	0	1	0	0	0	6468	1086	38	1	1202	1	GLI3	7	42005127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	42005127	117133536	8309	18626											
GLI3	2737	broad.mit.edu	37	chr7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggggggttgcagctgctgaGgctgctgaagcgcggcacac	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1027					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3079-3081)Ctc>Atc		GLI family zinc finger 3							15	17	16					7																	42005592		2196	4291	6487	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005592G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3079C>A	7.37:g.42005592G>T	ENSP00000379258:p.Leu1027Ile					GLI3_ENST00000479210.1_5'UTR	p.L1027I	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3163	-			1027					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3079C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622484	0.46840	.	.	ENSG00000106571	ENST00000395925	T	0.16743	2.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70595	2.14	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.03384	-1.1042	10	0.46703	T	0.11	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1027	P10071	GLI3_HUMAN	I	1027	ENSP00000379258:L1027I	ENSP00000379258:L1027I	L	-	1	0	GLI3	41972117	1.000000	0.71417	0.979000	0.43373	0.014000	0.08584	4.491000	0.60326	2.473000	0.83533	0.563000	0.77884	CTC		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		36	140	1	0	1.49673e-21	1	1.68722e-21	36	140					T	42005592	G	T	42005592	3	4	79	1	0	0	0	0	1	0	0	0	6468	1000	35	3	1667	3	GLI3	7	42005592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465	42005592	117133071	8310	18627											
C7orf25	79020	broad.mit.edu	37	chr7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttttagggtgtctcccGtcccaaaaattgttaatgag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(1090-1092)aCg>aTg		chromosome 7 open reading frame 25							83	81	82					7																	42949409		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949409G>A	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1091C>T	7.37:g.42949409G>A	ENSP00000343364:p.Thr364Met					C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M	p.T364M			Q9BPX7	CG025_HUMAN			2	1366	-			364					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.1091C>T	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362771	0.61403	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.96	5.08	0.68730	.	0.047210	0.85682	D	0.000000	T	0.68622	0.3021	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69510	-0.5126	10	0.36615	T	0.2	0.09	15.14	0.72604	0.0675:0.0:0.9325:0.0	.	422;364	B4DQM3;Q9BPX7	.;CG025_HUMAN	M	364;364;422;364	ENSP00000343364:T364M;ENSP00000413029:T364M;ENSP00000416290:T422M;ENSP00000396597:T364M	ENSP00000343364:T364M	T	-	2	0	C7orf25	42915934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.471000	0.97696	1.525000	0.49052	-0.136000	0.14681	ACG		0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		43	304	0	0	0	1	0	43	304					A	42949409	G	A	42949409	3	1	79	1	0	0	0	0	1	0	0	0	2387	1145	40	1	178	1	C7orf25	7	42949409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	943817	42949409	116189254	8311	18628											
C7orf25	79020	broad.mit.edu	37	chr7	42949837	42949837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtcaactctggtcacCtgcaaaagttcagggccctc	9	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Silent_p.Q221Q|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(661-663)caG>caA		chromosome 7 open reading frame 25							71	72	72					7																	42949837		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42949837C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.663G>A	7.37:g.42949837C>T						C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.Q221Q	p.Q221Q			Q9BPX7	CG025_HUMAN			2	938	-			221					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.663G>A	CCDS5466.1																																																																																				0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		58	240	0	0	0	1	0	58	240					T	42949837	C	T	42949837	2	4	79	1	0	0	0	0	0	0	0	1	2387	680	24	2		2	C7orf25	7	42949837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	42949837	116188826	8312	18629											
C7orf25	79020	broad.mit.edu	37	chr7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacagagcgttgactgctaCtatgtctcctctcacagata	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(577-579)Gta>Ata		chromosome 7 open reading frame 25							85	79	81					7																	42949923		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949923C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.577G>A	7.37:g.42949923C>T	ENSP00000343364:p.Val193Ile					C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I	p.V193I			Q9BPX7	CG025_HUMAN			2	852	-			193					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.577G>A	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	C7orf25	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA		0.468	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		60	288	0	0	0	1	0	60	288					T	42949923	C	T	42949923	3	4	79	1	0	0	0	0	1	0	0	0	2387	565	20	2	692	2	C7orf25	7	42949923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	42949923	116188740	8313	18630											
C7orf25	79020	broad.mit.edu	37	chr7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtgttaggttagtgCtctgtaaatgagactcttta	11	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403																																						ENST00000350427.4																			1	Substitution - Missense(1)	p.S66N(1)	endometrium(1)	endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(196-198)aGc>aAc		chromosome 7 open reading frame 25							179	171	174					7																	42950303		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42950303C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.197G>A	7.37:g.42950303C>T	ENSP00000343364:p.Ser66Asn					C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N	p.S66N			Q9BPX7	CG025_HUMAN			2	472	-			66					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.197G>A	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605821	0.66445	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.82823	2.61	0.80722	D	1	B;B;D	0.89917	0.085;0.085;1.0	B;B;D	0.79784	0.072;0.072;0.993	T	0.78685	-0.2108	10	0.87932	D	0	-19.246	14.2576	0.66062	0.0:0.9285:0.0:0.0715	.	66;124;66	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	N	66;66;124;66;66;80;66	ENSP00000343364:S66N;ENSP00000413029:S66N;ENSP00000416290:S124N;ENSP00000396597:S66N;ENSP00000413106:S66N;ENSP00000416542:S66N	ENSP00000343364:S66N	S	-	2	0	C7orf25	42916828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.456000	0.80751	1.348000	0.45733	0.555000	0.69702	AGC		0.403	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		152	603	0	0	0	1	0	152	603					T	42950303	C	T	42950303	3	4	79	1	0	0	0	0	1	0	0	0	2387	797	28	2	1072	2	C7orf25	7	42950303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	42950303	116188360	8314	18631											
PSMA2	5683	broad.mit.edu	37	chr7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacttcagttggagtaagcCtcctaaatccagcttcattg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000223321.4	-	8	723	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000442788.1_Missense_Mutation_p.R220M|PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(658-660)aGg>aTg		proteasome (prosome, macropain) subunit, alpha type, 2							100	84	90					7																	42957219		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957219C>A	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.659G>T	7.37:g.42957219C>A	ENSP00000223321:p.Arg220Met					PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M|PSMA2_ENST00000223321.4_Missense_Mutation_p.R220M	p.R220M			P25787	PSA2_HUMAN			8	674	-			220					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.659G>T	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886810	0.72410	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.69248	2.105	0.80722	D	1	B	0.24368	0.102	B	0.32289	0.143	T	0.42172	-0.9467	10	0.39692	T	0.17	.	19.8546	0.96752	0.0:1.0:0.0:0.0	.	220	P25787	PSA2_HUMAN	M	220;150	ENSP00000223321:R220M;ENSP00000404858:R150M	ENSP00000223321:R220M	R	-	2	0	PSMA2	42923744	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	AGG		0.378	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		55	192	1	0	7.47603e-22	1	8.43918e-22	55	192					A	42957219	C	A	42957219	3	1	79	1	0	0	0	0	1	0	0	0	12714	681	24	3	49	3	PSMA2	7	42957219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6916	42957219	116181444	8315	18632											
HECW1	23072	broad.mit.edu	37	chr7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgggtgagggcagtGtccccgatggtccagggaac	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.2	+	11	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGAGGGCAGTGTCCCCGATGG	0.602																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1201-1203)Gtc>Ctc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							46	50	49					7																	43483972		2100	4229	6329	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483972G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1201G>C	7.37:g.43483972G>C	ENSP00000379228:p.Val401Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1806	+			401					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1201G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348572	0.11126	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29142	1.58;1.58	5.4	1.27	0.21489	.	8.972470	0.00166	N	0.000000	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.11329	0.006;0.002	T	0.12451	-1.0547	10	0.09084	T	0.74	.	2.8098	0.05438	0.1378:0.1234:0.4846:0.2543	.	401;401	B4DH42;Q76N89	.;HECW1_HUMAN	L	401	ENSP00000379228:V401L;ENSP00000407774:V401L	ENSP00000265522:V401L	V	+	1	0	HECW1	43450497	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.366000	0.20365	0.331000	0.23511	-0.182000	0.12963	GTC		0.602	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		44	227	0	0	0	1	0	44	227					C	43483972	G	C	43483972	3	2	79	1	0	0	0	0	1	0	0	0	7072	1377	48	5	1235	5	HECW1	7	43483972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526753	43483972	115654691	8316	18633											
HECW1	23072	broad.mit.edu	37	chr7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggccctgctccttgcCtgtgtccgagctggagacgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.2	+	11	2218	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTCCTTGCCTGTGTCCGAG	0.657																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1612-1614)cCt>cAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							38	47	44					7																	43484384		2108	4227	6335	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484384C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1613C>A	7.37:g.43484384C>A	ENSP00000379228:p.Pro538His					HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2218	+			538					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1613C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471918	0.43942	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63913	1.02;-0.07	5.32	3.53	0.40419	.	1.104460	0.06890	N	0.804018	T	0.71745	0.3376	L	0.59436	1.845	0.52099	D	0.999947	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.61212	-0.7108	10	0.87932	D	0	.	11.6784	0.51442	0.0:0.8567:0.0:0.1433	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	H	538	ENSP00000379228:P538H;ENSP00000407774:P538H	ENSP00000265522:P538H	P	+	2	0	HECW1	43450909	1.000000	0.71417	0.010000	0.14722	0.236000	0.25371	4.701000	0.61810	0.635000	0.30488	-0.136000	0.14681	CCT		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		10	270	1	0	1.58986e-06	1	1.64048e-06	10	270					A	43484384	C	A	43484384	3	1	79	1	0	0	0	0	1	0	0	0	7072	681	24	3	1647	3	HECW1	7	43484384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	43484384	115654279	8317	18634											
HECW1	23072	broad.mit.edu	37	chr7	43484460	43484460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggacacactacatccgcatCcacaccctgctgcacagcat	6	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.2	+	11	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000453890.1_Silent_p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	563					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCCGCATCCACACCCTGC	0.682																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1687-1689)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							40	48	46					7																	43484460		2125	4232	6357	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484460C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1689C>T	7.37:g.43484460C>T						HECW1_ENST00000453890.1_Silent_p.I563I	p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2294	+			563					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1689C>T	CCDS5469.2																																																																																				0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		70	388	0	0	0	1	0	70	388					T	43484460	C	T	43484460	2	4	79	1	0	0	0	0	0	0	0	1	7072	845	30	2		2	HECW1	7	43484460	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	43484460	115654203	8318	18635											
HECW1	23072	broad.mit.edu	37	chr7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagatctccgagagcaCggtcttctcctcgcaagacg	10	15	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.2	+	11	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	731					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCGAGAGCACGGTCTTCTCC	0.632																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2191-2193)aCg>aTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							70	76	74					7																	43484963		2134	4233	6367	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484963C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2192C>T	7.37:g.43484963C>T	ENSP00000379228:p.Thr731Met					HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2797	+			731					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2192C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543382	0.86022	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46819	1.3;0.86	4.62	4.62	0.57501	.	0.419197	0.26812	N	0.022366	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.63844	-0.6545	10	0.56958	D	0.05	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	731;731	B4DH42;Q76N89	.;HECW1_HUMAN	M	731	ENSP00000379228:T731M;ENSP00000407774:T731M	ENSP00000265522:T731M	T	+	2	0	HECW1	43451488	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.567000	0.82357	2.106000	0.64143	0.591000	0.81541	ACG		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		29	606	0	0	0	1	0	29	606					T	43484963	C	T	43484963	3	4	79	1	0	0	0	0	1	0	0	0	7072	536	19	1	2226	1	HECW1	7	43484963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	43484963	115653700	8319	18636											
HECW1	23072	broad.mit.edu	37	chr7	43490509	43490509	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcatcactacccaacaatCgatgagcctcttccaccaag	4	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.2	+	12	3086	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	827					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCAACAATCGATGAGCCTC	0.418																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2479-2481)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							140	136	137					7																	43490509		1926	4127	6053	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43490509C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2481C>T	7.37:g.43490509C>T						HECW1_ENST00000453890.1_Intron	p.I827I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			12	3086	+			827					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2481C>T	CCDS5469.2																																																																																				0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	300	0	0	0	1	0	9	300					T	43490509	C	T	43490509	2	4	79	1	0	0	0	0	0	0	0	1	7072	874	31	1		1	HECW1	7	43490509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5546	43490509	115648154	8320	18637											
HECW1	23072	broad.mit.edu	37	chr7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaaggagtacatcgagCgcatggtgaagtggcgggtg	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.2	+	27	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1442	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACATCGAGCGCATGGTGAA	0.587																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4324-4326)Cgc>Tgc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1																																				SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43590119C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4324C>T	7.37:g.43590119C>T	ENSP00000379228:p.Arg1442Cys					HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	p.R1442C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			27	4929	+			1442			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4324C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086304	0.76642	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.59224	0.28;0.28	5.62	1.73	0.24493	HECT (4);	0.048274	0.85682	D	0.000000	T	0.71178	0.3309	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.969	T	0.74025	-0.3797	10	0.87932	D	0	.	13.675	0.62449	0.5785:0.4215:0.0:0.0	.	1408;1442	B4DH42;Q76N89	.;HECW1_HUMAN	C	1442;1408;1442	ENSP00000379228:R1442C;ENSP00000407774:R1408C	ENSP00000265522:R1442C	R	+	1	0	HECW1	43556644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.383000	0.24910	-0.274000	0.10170	CGC		0.587	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		16	100	0	0	0	1	0	16	100					T	43590119	C	T	43590119	3	4	79	1	0	0	0	0	1	0	0	0	7072	768	27	1	4422	1	HECW1	7	43590119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99610	43590119	115548544	8321	18638											
BLVRA	644	broad.mit.edu	37	chr7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgttggaagaagagCggtttggcttccctgcattc	13	11	0	2	rs377670975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	161					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGAAGAAGAGCGGTTTGGCTT	0.577																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(481-483)Cgg>Tgg		biliverdin reductase A	NADH(DB00157)	C	TRP/ARG	0,4406		0,0,2203	175	181	179		481	3.4	1	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	BLVRA	NM_000712.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/297	43843295	1,13005	2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43843295C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.481C>T	7.37:g.43843295C>T	ENSP00000385757:p.Arg161Trp					BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			8	644	+			161					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.481C>T	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405472	0.62288	0.0	1.16E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25749	1.78;1.78	4.32	3.43	0.39272	Biliverdin reductase, catalytic (2);	1.288820	0.05404	N	0.541181	T	0.38295	0.1035	L	0.34521	1.04	0.27900	N	0.93901	D	0.76494	0.999	D	0.64321	0.924	T	0.26052	-1.0114	10	0.32370	T	0.25	.	9.8946	0.41311	0.204:0.796:0.0:0.0	.	161	P53004	BIEA_HUMAN	W	161	ENSP00000265523:R161W;ENSP00000385757:R161W	ENSP00000265523:R161W	R	+	1	2	BLVRA	43809820	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.469000	0.35343	0.923000	0.37045	-0.310000	0.09108	CGG		0.577	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		234	1130	0	0	0	1	0	234	1130					T	43843295	C	T	43843295	3	4	79	1	0	0	0	0	1	0	0	0	1453	759	27	1	503	1	BLVRA	7	43843295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253176	43843295	115295368	8322	18639											
BLVRA	644	broad.mit.edu	37	chr7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcatcctgcactgcctgGggcttgcagaagaaatccag	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	283					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCACTGCCTGGGGCTTGCAGA	0.443																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(847-849)Ggg>Agg		biliverdin reductase A	NADH(DB00157)						66	67	67					7																	43846790		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43846790G>A	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.847G>A	7.37:g.43846790G>A	ENSP00000385757:p.Gly283Arg					BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			9	1010	+			283					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.847G>A	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058859	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.21191	2.02;2.02	4.38	2.41	0.29592	.	0.489174	0.24757	N	0.035848	T	0.13628	0.0330	N	0.22421	0.69	0.24712	N	0.993192	B	0.19706	0.038	B	0.25140	0.058	T	0.28267	-1.0049	10	0.21540	T	0.41	.	10.8631	0.46837	0.0:0.0:0.6118:0.3882	.	283	P53004	BIEA_HUMAN	R	283	ENSP00000265523:G283R;ENSP00000385757:G283R	ENSP00000265523:G283R	G	+	1	0	BLVRA	43813315	1.000000	0.71417	0.920000	0.36463	0.896000	0.52359	1.267000	0.33050	0.299000	0.22661	0.561000	0.74099	GGG		0.443	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		69	268	0	0	0	1	0	69	268					A	43846790	G	A	43846790	3	1	79	1	0	0	0	0	1	0	0	0	1453	1232	43	2	873	2	BLVRA	7	43846790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3495	43846790	115291873	8323	18640											
URGCP	55665	broad.mit.edu	37	chr7	43917061	43917061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggacgggcatgctcagCgtgctcccatcgattagctc	12	14	1	0	rs369206269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43917061C>T	ENST00000453200.1	-	6	2494	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000336086.6_Silent_p.T624T|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP_ENST00000447717.3_Silent_p.T624T|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGCTCAGCGTGCTCCCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.0	False		,,,				2504	0.001					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1870-1872)acG>acA		upregulator of cell proliferation		C	,,,	0,4260		0,0,2130	28	32	31		2001,1872,,1974	-1	0.3	7		31	2,8462		0,2,4230	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	URGCP,URGCP-MRPS24	NM_001077663.1,NM_001077664.1,NM_001204871.1,NM_017920.3	,,,	0,2,6360	TT,TC,CC		0.0236,0.0,0.0157	,,,	667/932,624/889,,658/923	43917061	2,12722	2130	4232	6362	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917061C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2001G>A	7.37:g.43917061C>T						URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000447717.3_Silent_p.T624T|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000453200.1_Silent_p.T667T	p.T624T			Q8TCY9	URGCP_HUMAN			4	4108	-			667					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.1872G>A	CCDS47578.1																																																																																				0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		46	207	0	0	0	1	0	46	207					T	43917061	C	T	43917061	2	4	79	1	0	0	0	0	0	0	0	1	17080	755	27	1		1	URGCP	7	43917061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70271	43917061	115221602	8324	18641											
POLM	27434	broad.mit.edu	37	chr7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctgcgcaccttcatggtCtggtacctctctgagcgccg	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000242248.5	-	5	806	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	235					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(703-705)caG>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							145	98	114					7																	44118348		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44118348C>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.705G>T	7.37:g.44118348C>A	ENSP00000242248:p.Gln235His					POLM_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H	p.Q235H	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			5	806	-			235					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.705G>T	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861878	0.51482	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.47177	2.38;0.85	5.91	4.12	0.48240	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.56906	0.2017	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.63880	0.958;0.963;0.993;0.987	P;P;P;P	0.56823	0.748;0.662;0.807;0.739	T	0.58092	-0.7697	9	0.66056	D	0.02	.	9.1492	0.36953	0.0:0.8334:0.0:0.1666	.	202;235;235;235	B4DG75;Q6PIY2;Q6P5X8;Q9NP87	.;.;.;DPOLM_HUMAN	H	235	ENSP00000335141:Q235H;ENSP00000242248:Q235H	ENSP00000242248:Q235H	Q	-	3	2	POLM	44084873	0.995000	0.38212	0.987000	0.45799	0.947000	0.59692	0.638000	0.24674	0.851000	0.35264	0.650000	0.86243	CAG		0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		59	305	1	0	6.70656e-16	1	7.34664e-16	59	305					A	44118348	C	A	44118348	3	1	79	1	0	0	0	0	1	0	0	0	12248	912	32	3	807	3	POLM	7	44118348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201287	44118348	115020315	8325	18642											
AEBP1	165	broad.mit.edu	37	chr7	44144435	44144435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgacgtggaggccccGccgcctcccgagcccacccc	13	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	ENST00000223357.3	+	1	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	57	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGGCCCCGCCGCCTCCCG	0.711																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(169-171)ccG>ccA		AE binding protein 1							12	11	11					7																	44144435		2179	4281	6460	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44144435G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.171G>A	7.37:g.44144435G>A							p.P57P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			1	476	+			57			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.171G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414423	0.11870	.	.	ENSG00000106624	ENST00000455443	.	.	.	3.52	1.46	0.22682	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-9.9063	5.7451	0.18116	0.2815:0.0:0.7185:0.0	.	.	.	.	T	15	.	.	A	+	1	0	AEBP1	44110960	0.060000	0.20803	0.708000	0.30435	0.435000	0.31806	1.053000	0.30442	-0.018000	0.14079	0.511000	0.50034	GCC		0.711	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		9	57	0	0	0	1	0	9	57					A	44144435	G	A	44144435	2	1	79	1	0	0	0	0	0	0	0	1	349	1074	38	1		1	AEBP1	7	44144435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26087	44144435	114994228	8326	18643											
AEBP1	165	broad.mit.edu	37	chr7	44148560	44148560	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagcgccagacagacgaaGagaaggaggagctgagtgag	17	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148560G>T	ENST00000223357.3	+	7	1308	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	335					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAGACGAAGAGAAGGAGGA	0.627																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1003-1005)Gag>Tag		AE binding protein 1							60	53	55					7																	44148560		2196	4296	6492	SO:0001587	stop_gained	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148560G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1003G>T	7.37:g.44148560G>T	ENSP00000223357:p.Glu335*						p.E335*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			7	1308	+			335					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	37	c.1003G>T	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265895|5.265895	0.95399|0.95399	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.695066|.	0.13617|.	N|.	0.374699|.	.|T	.|0.69043	.|0.3067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68387	.|-0.5422	.|4	0.87932|.	D|.	0|.	-26.7298|-26.7298	14.2378|14.2378	0.65938|0.65938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	335|227	.|.	ENSP00000223357:E335X|.	E|R	+|+	1|2	0|0	AEBP1|AEBP1	44115085|44115085	0.995000|0.995000	0.38212|0.38212	0.982000|0.982000	0.44146|0.44146	0.924000|0.924000	0.55760|0.55760	3.008000|3.008000	0.49544|0.49544	2.167000|2.167000	0.68274|0.68274	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		6	67	1	0	3.59834e-05	1	3.67436e-05	6	67					T	44148560	G	T	44148560	4	4	79	1	0	0	0	0	0	1	0	0	349	943	33	3	1029	3	AEBP1	7	44148560	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4125	44148560	114990103	8327	18644											
AEBP1	165	broad.mit.edu	37	chr7	44148713	44148714	+	Frame_Shift_Ins	INS	-	-	A													tgcaccttccagagaaacccINSaaaaaggaggacagcagccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148713_44148714insA	ENST00000223357.3	+	8	1331_1332	c.1026_1027insA	c.(1027-1029)aaafs	p.K343fs	AEBP1_ENST00000454218.1_3'UTR|MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	343					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGAGAAACCCAAAAAGGAGGA	0.629																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1024-1029)ccaaaafs		AE binding protein 1																																				SO:0001589	frameshift_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148713_44148714insA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1031dupA	7.37:g.44148718_44148718dupA	ENSP00000223357:p.Lys343fs					AEBP1_ENST00000454218.1_3'UTR	p.PK342fs	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			8	1331_1332	+			342					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Frame_Shift_Ins	INS	ENST00000223357.3	37	c.1026_1027insA	CCDS5476.1																																																																																				0.629	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		37	198						37	198	---	---	---	---	A	44148714	-	A	44148713	7	5	79	1	0	1	1	0	0	0	0	0	349	581	21	0	1056	0	AEBP1	7	44148713	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	153	44148713	114989950	8328	18645											
AEBP1	165	broad.mit.edu	37	chr7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T													gccctatgaccccccaacagCgacgcctgcagcagcgacgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1016	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAACAGCGACGCCTGCA	0.662																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3046-3048)Cga>Tga		AE binding protein 1							86	92	90					7																	44153429		2203	4300	6503	SO:0001587	stop_gained	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153429C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3046C>T	7.37:g.44153429C>T	ENSP00000223357:p.Arg1016*					AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	p.R1016*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3351	+			1016			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	37	c.3046C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	43	9.986870	0.99312	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.33	2.51	0.30379	.	0.321128	0.27730	N	0.018100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3185	14.3421	0.66633	0.3866:0.6133:0.0:0.0	.	.	.	.	X	1016;591	.	ENSP00000223357:R1016X	R	+	1	2	AEBP1	44119954	0.002000	0.14202	0.748000	0.31131	0.801000	0.45260	1.374000	0.34283	0.230000	0.21059	-0.270000	0.10280	CGA		0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		120	541	0	0	0	1	0	120	541					T	44153429	C	T	44153429	4	4	79	1	0	0	0	0	0	1	0	0	349	760	27	1	3128	1	AEBP1	7	44153429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4716	44153429	114985234	8329	18646	114	2									
AEBP1	165	broad.mit.edu	37	chr7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T													ctatgaccccccaacagcgaCgcctgcagcagcgacgccta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1017	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAACAGCGACGCCTGCAGCA	0.662																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3049-3051)Cgc>Tgc		AE binding protein 1							82	87	85					7																	44153432		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153432C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3049C>T	7.37:g.44153432C>T	ENSP00000223357:p.Arg1017Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	p.R1017C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3354	+			1017			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3049C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499192	0.64298	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.09	5.33	3.25	0.37280	.	0.782162	0.12025	N	0.506551	D	0.89164	0.6637	N	0.19112	0.55	0.21984	N	0.999438	D;D	0.58268	0.982;0.97	P;B	0.44732	0.459;0.27	T	0.81852	-0.0742	10	0.62326	D	0.03	-12.0385	7.3391	0.26627	0.2928:0.6046:0.0:0.1025	.	592;1017	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1017;592	ENSP00000223357:R1017C;ENSP00000398878:R592C	ENSP00000223357:R1017C	R	+	1	0	AEBP1	44119957	0.000000	0.05858	0.510000	0.27712	0.846000	0.48090	0.986000	0.29590	1.241000	0.43820	0.557000	0.71058	CGC		0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		118	514	0	0	0	1	0	118	514					T	44153432	C	T	44153432	3	4	79	1	0	0	0	0	1	0	0	0	349	536	19	1	3131	1	AEBP1	7	44153432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	44153432	114985231	8330	18647	114	2									
AEBP1	165	broad.mit.edu	37	chr7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccctaggcccccacaCtgtgcctcccacgctgcccc	6	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1048	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCCCACACTGTGCCTCCC	0.701																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3142-3144)aCt>aTt		AE binding protein 1							45	45	45					7																	44153526		2202	4298	6500	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153526C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3143C>T	7.37:g.44153526C>T	ENSP00000223357:p.Thr1048Ile					AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	p.T1048I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3448	+			1048			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3143C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393069	0.25118	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95690	-3.78;-3.13	4.0	0.568	0.17333	.	1.510280	0.03661	N	0.242499	D	0.92047	0.7480	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.34931	0.192;0.094	D	0.84349	0.0531	10	0.87932	D	0	4.82	8.4594	0.32919	0.2768:0.581:0.1422:0.0	.	623;1048	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	1048;623	ENSP00000223357:T1048I;ENSP00000398878:T623I	ENSP00000223357:T1048I	T	+	2	0	AEBP1	44120051	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.877000	0.28106	0.113000	0.18004	0.557000	0.71058	ACT		0.701	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		31	242	0	0	0	1	0	31	242					T	44153526	C	T	44153526	3	4	79	1	0	0	0	0	1	0	0	0	349	565	20	2	3225	2	AEBP1	7	44153526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	44153526	114985137	8331	18648											
POLD2	5425	broad.mit.edu	37	chr7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcactgtctggtcctcaGgacctgcaaagaagtcacat	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000452185.1_Missense_Mutation_p.P418H|POLD2_ENST00000223361.3_Missense_Mutation_p.P404H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	418					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1252-1254)cCt>cAt		polymerase (DNA directed), delta 2, accessory subunit							33	32	32					7																	44154541		2203	4298	6501	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154541G>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1253C>A	7.37:g.44154541G>T	ENSP00000386105:p.Pro418His					POLD2_ENST00000223361.3_Missense_Mutation_p.P404H|POLD2_ENST00000452185.1_Missense_Mutation_p.P418H	p.P418H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			12	1902	-			418					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1253C>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296893	0.60086	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.45276	0.91;0.9;0.91	5.8	4.93	0.64822	.	0.114840	0.64402	D	0.000011	T	0.51517	0.1679	M	0.66939	2.045	0.47819	D	0.999527	D;D	0.56287	0.958;0.975	P;P	0.55615	0.63;0.78	T	0.52786	-0.8529	10	0.46703	T	0.11	-12.3013	7.5049	0.27538	0.0784:0.0:0.6619:0.2596	.	418;404	P49005;F8W8R3	DPOD2_HUMAN;.	H	418;404;418	ENSP00000386105:P418H;ENSP00000223361:P404H;ENSP00000395231:P418H	ENSP00000223361:P404H	P	-	2	0	POLD2	44121066	0.813000	0.29090	0.988000	0.46212	0.950000	0.60333	2.801000	0.47908	1.478000	0.48253	0.655000	0.94253	CCT		0.562	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		10	81	1	0	9.70103e-10	1	1.02402e-09	10	81					T	44154541	G	T	44154541	3	4	79	1	0	0	0	0	1	0	0	0	12233	1000	35	3	160	3	POLD2	7	44154541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1015	44154541	114984122	8332	18649											
GCK	2645	broad.mit.edu	37	chr7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagagctctcgtccaCcaggcggtcatactccagca	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	277	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(829-831)Gtg>Atg		glucokinase (hexokinase 4)							65	66	66					7																	44187283		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44187283C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.829G>A	7.37:g.44187283C>T	ENSP00000384247:p.Val277Met					GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000395796.3_Missense_Mutation_p.V276M	p.V277M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			7	1298	-			277					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.829G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967824	0.92855	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.121200	0.56097	D	0.000035	D	0.97173	0.9076	L	0.58925	1.835	0.54753	D	0.999986	D;P;P	0.53885	0.963;0.803;0.954	P;P;P	0.58266	0.836;0.532;0.747	D	0.97189	0.9856	10	0.52906	T	0.07	-39.9831	18.9928	0.92800	0.0:1.0:0.0:0.0	.	277;278;276	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	277;276;278;260	ENSP00000384247:V277M;ENSP00000379142:V276M;ENSP00000223366:V278M;ENSP00000402840:V260M	ENSP00000223366:V278M	V	-	1	0	GCK	44153808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.954000	0.56708	2.585000	0.87301	0.561000	0.74099	GTG		0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			23	515	0	0	0	1	0	23	515					T	44187283	C	T	44187283	3	4	79	1	0	0	0	0	1	0	0	0	6321	507	18	2	584	2	GCK	7	44187283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32742	44187283	114951380	8333	18650											
NUDCD3	23386	broad.mit.edu	37	chr7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattaaaactgcacagccCccggggagatgttgaacatg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	357										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(1069-1071)gGg>gAg		NudC domain containing 3							68	64	65					7																	44425626		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44425626C>T	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.1070G>A	7.37:g.44425626C>T	ENSP00000347626:p.Gly357Glu					NUDCD3_ENST00000460110.1_5'UTR	p.G357E	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			6	1349	-			357					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.1070G>A	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917406	0.92249	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.58358	0.34	5.88	5.88	0.94601	.	0.103771	0.64402	D	0.000004	T	0.68632	0.3022	L	0.59436	1.845	0.58432	D	0.999994	D	0.69078	0.997	P	0.60789	0.879	T	0.69176	-0.5214	10	0.72032	D	0.01	-20.757	19.8237	0.96607	0.0:1.0:0.0:0.0	.	357	Q8IVD9	NUDC3_HUMAN	E	357;113	ENSP00000347626:G357E	ENSP00000345922:G113E	G	-	2	0	NUDCD3	44392151	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.769000	0.68865	2.786000	0.95864	0.655000	0.94253	GGG		0.572	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		25	291	0	0	0	1	0	25	291					T	44425626	C	T	44425626	3	4	79	1	0	0	0	0	1	0	0	0	10766	623	22	2	19	2	NUDCD3	7	44425626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238343	44425626	114713037	8334	18651											
NUDCD3	23386	broad.mit.edu	37	chr7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaaggccattacctgcTttcccttcaccacgtgcttg	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	213	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(637-639)aAg>aCg		NudC domain containing 3							131	118	122					7																	44467174		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44467174T>G	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.638A>C	7.37:g.44467174T>G	ENSP00000347626:p.Lys213Thr					NUDCD3_ENST00000460110.1_5'UTR	p.K213T	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			3	917	-			213			CS.		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.638A>C	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059671	0.76074	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.78	3.49	0.39957	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.277214	0.38436	N	0.001683	T	0.68467	0.3004	M	0.80422	2.495	0.34906	D	0.746983	B	0.28055	0.199	P	0.57548	0.823	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7429	6.7428	0.23445	0.0:0.256:0.0:0.744	.	213	Q8IVD9	NUDC3_HUMAN	T	213	ENSP00000347626:K213T	ENSP00000347626:K213T	K	-	2	0	NUDCD3	44433699	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.970000	0.29383	0.505000	0.28104	0.533000	0.62120	AAG		0.567	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		89	416	0	0	0	1	0	89	416					G	44467174	T	G	44467174	3	3	79	1	0	0	0	0	1	0	0	0	10766	1609	56	4	463	4	NUDCD3	7	44467174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41548	44467174	114671489	8335	18652											
NPC1L1	29881	broad.mit.edu	37	chr7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccacactcactgacggtcGaggggcagaacttgtcctta	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587																																						ENST00000289547.4																			1	Substitution - Missense(1)	p.S982L(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2944-2946)tCg>tTg		NPC1-like 1	Ezetimibe(DB00973)						71	71	71					7																	44561319		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561319G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2945C>T	7.37:g.44561319G>A	ENSP00000289547:p.Ser982Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	p.S982L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			12	3000	-			982					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2945C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	NPC1L1	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG		0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		64	290	0	0	0	1	0	64	290					A	44561319	G	A	44561319	3	1	79	1	0	0	0	0	1	0	0	0	10613	1059	37	1	1170	1	NPC1L1	7	44561319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94145	44561319	114577344	8336	18653											
NPC1L1	29881	broad.mit.edu	37	chr7	44561836	44561836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatagtcaagcaggtaCgagtcctaggagtggaggag	16	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2641-2643)tcG>tcA		NPC1-like 1	Ezetimibe(DB00973)						47	45	46					7																	44561836		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561836C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2643G>A	7.37:g.44561836C>T						NPC1L1_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			11	2698	-			881					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2643G>A	CCDS5491.1																																																																																				0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	99	0	0	0	1	0	25	99					T	44561836	C	T	44561836	2	4	79	1	0	0	0	0	0	0	0	1	10613	523	19	1		1	NPC1L1	7	44561836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	44561836	114576827	8337	18654											
NPC1L1	29881	broad.mit.edu	37	chr7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggttgttctggaaataCtgcaggaggctgttgatgca	15	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000289547.4	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	492					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1474-1476)caG>caT		NPC1-like 1	Ezetimibe(DB00973)						143	123	130					7																	44578520		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578520C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1476G>T	7.37:g.44578520C>A	ENSP00000289547:p.Gln492His					NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H	p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1531	-			492					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1476G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	16.63	3.177743	0.57692	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.07	3.26	0.37387	.	0.133289	0.51477	D	0.000084	D	0.92264	0.7546	M	0.84585	2.705	0.41428	D	0.987841	B;D;B;B	0.69078	0.035;0.997;0.008;0.009	B;P;B;B	0.58873	0.047;0.847;0.031;0.007	D	0.90153	0.4222	10	0.46703	T	0.11	-12.2679	7.0715	0.25181	0.0:0.7223:0.0:0.2777	.	492;492;492;492	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	492	ENSP00000289547:Q492H;ENSP00000370552:Q492H;ENSP00000438033:Q492H;ENSP00000404670:Q492H	ENSP00000289547:Q492H	Q	-	3	2	NPC1L1	44545045	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	2.869000	0.48444	0.537000	0.28751	0.407000	0.27541	CAG		0.562	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		76	298	1	0	1.38806e-43	1	1.69524e-43	76	298					A	44578520	C	A	44578520	3	1	79	1	0	0	0	0	1	0	0	0	10613	564	20	3	2679	3	NPC1L1	7	44578520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16684	44578520	114560143	8338	18655											
NPC1L1	29881	broad.mit.edu	37	chr7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcgggtgaggagggcCttggtgatcgacagactcgc	19	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000289547.4	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	107					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(319-321)aaG>aaT		NPC1-like 1	Ezetimibe(DB00973)						83	74	77					7																	44579675		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579675C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.321G>T	7.37:g.44579675C>A	ENSP00000289547:p.Lys107Asn					NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N	p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	376	-			107					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.321G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	9.686	1.150677	0.21371	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.9	4.01	0.46588	.	0.055764	0.64402	D	0.000002	D	0.91236	0.7238	L	0.48218	1.51	0.42876	D	0.994154	D;D;P;D	0.89917	0.959;1.0;0.867;0.999	P;D;B;P	0.87578	0.463;0.998;0.348;0.904	D	0.87513	0.2441	10	0.17832	T	0.49	-33.0028	7.9746	0.30147	0.0:0.8104:0.0:0.1896	.	107;107;107;107	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	107	ENSP00000289547:K107N;ENSP00000370552:K107N;ENSP00000438033:K107N;ENSP00000404670:K107N	ENSP00000289547:K107N	K	-	3	2	NPC1L1	44546200	0.961000	0.32948	1.000000	0.80357	0.655000	0.38815	0.323000	0.19593	2.262000	0.75019	0.555000	0.69702	AAG		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		36	252	1	0	2.75727e-19	1	3.0731e-19	36	252					A	44579675	C	A	44579675	3	1	79	1	0	0	0	0	1	0	0	0	10613	680	24	3	3834	3	NPC1L1	7	44579675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155	44579675	114558988	8339	18656											
NPC1L1	29881	broad.mit.edu	37	chr7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatagaaggcgcagtagCcaggctggtggatggttgtg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000289547.4	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	31					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(91-93)gGc>gAc		NPC1-like 1	Ezetimibe(DB00973)						79	74	75					7																	44579904		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579904C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.92G>A	7.37:g.44579904C>T	ENSP00000289547:p.Gly31Asp					NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D	p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	147	-			31					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.92G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.353004	0.61293	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.17	4.29	0.51040	.	0.064498	0.64402	N	0.000011	D	0.97801	0.9278	M	0.83012	2.62	0.49389	D	0.999782	P;D;D;D	0.89917	0.941;1.0;0.995;1.0	B;D;P;D	0.97110	0.369;1.0;0.739;0.999	D	0.97747	1.0212	10	0.56958	D	0.05	-27.0967	11.3615	0.49646	0.0:0.9104:0.0:0.0896	.	31;31;31;31	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	D	31	ENSP00000289547:G31D;ENSP00000370552:G31D;ENSP00000438033:G31D;ENSP00000404670:G31D	ENSP00000289547:G31D	G	-	2	0	NPC1L1	44546429	0.991000	0.36638	0.924000	0.36721	0.716000	0.41182	3.187000	0.50950	1.172000	0.42781	0.561000	0.74099	GGC		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		56	219	0	0	0	1	0	56	219					T	44579904	C	T	44579904	3	4	79	1	0	0	0	0	1	0	0	0	10613	739	26	2	4063	2	NPC1L1	7	44579904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229	44579904	114558759	8340	18657											
DDX56	54606	broad.mit.edu	37	chr7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagggcatacagcaggaGgaatttgtcttcctcagtct	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000258772.5	-	6	842	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000431640.1_Missense_Mutation_p.L246I|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	246	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(736-738)Ctc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							92	79	84					7																	44611245		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611245G>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.736C>A	7.37:g.44611245G>T	ENSP00000258772:p.Leu246Ile					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.L246I	p.L246I	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			6	842	-			246			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.736C>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881624	0.72294	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04234	3.67;3.75	5.82	2.03	0.26663	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.68593	2.085	0.45899	D	0.998748	P;D	0.69078	0.822;0.997	P;P	0.61201	0.495;0.885	T	0.12426	-1.0548	10	0.20519	T	0.43	-17.2289	8.7838	0.34807	0.313:0.0:0.687:0.0	.	246;246	C9JV95;Q9NY93	.;DDX56_HUMAN	I	246	ENSP00000258772:L246I;ENSP00000393488:L246I	ENSP00000258772:L246I	L	-	1	0	DDX56	44577770	1.000000	0.71417	0.061000	0.19648	0.825000	0.46686	4.194000	0.58393	0.096000	0.17463	-0.251000	0.11542	CTC		0.527	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		55	277	1	0	7.36392e-32	1	8.68075e-32	55	277					T	44611245	G	T	44611245	3	4	79	1	0	0	0	0	1	0	0	0	4385	1000	35	3	943	3	DDX56	7	44611245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31341	44611245	114527418	8341	18658											
DDX56	54606	broad.mit.edu	37	chr7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtccaccaccaaaagctCcagggagtcacgaagtttca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000258772.5	-	4	587	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000431640.1_Missense_Mutation_p.E161K|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(481-483)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box helicase 56							144	142	142					7																	44612246		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612246C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.481G>A	7.37:g.44612246C>T	ENSP00000258772:p.Glu161Lys					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E161K	p.E161K	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			4	587	-			161			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.481G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518387	0.64634	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053895	0.64402	D	0.000001	T	0.24661	0.0598	N	0.05383	-0.06	0.54753	D	0.999987	B;B	0.33583	0.277;0.418	B;B	0.35278	0.159;0.199	T	0.10730	-1.0617	10	0.25106	T	0.35	-39.2328	12.9102	0.58175	0.0:0.8368:0.1632:0.0	.	161;161	C9JV95;Q9NY93	.;DDX56_HUMAN	K	161	ENSP00000258772:E161K;ENSP00000393488:E161K	ENSP00000258772:E161K	E	-	1	0	DDX56	44578771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.746000	0.94184	0.655000	0.94253	GAG		0.507	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		116	552	0	0	0	1	0	116	552					T	44612246	C	T	44612246	3	4	79	1	0	0	0	0	1	0	0	0	4385	864	30	2	1206	2	DDX56	7	44612246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	44612246	114526417	8342	18659											
TMED4	222068	broad.mit.edu	37	chr7	44621144	44621144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgaacgtgaagcggccCtccgagccgtactgccggga	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000457408.2	-	3	343	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Silent_p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	97	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567																																						ENST00000457408.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(289-291)gaG>gaA		transmembrane emp24 protein transport domain containing 4							67	69	69					7																	44621144		2203	4300	6503	SO:0001819	synonymous_variant	222068				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity	g.chr7:44621144C>T	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.291G>A	7.37:g.44621144C>T						TMED4_ENST00000289577.5_Silent_p.E97E|TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR	p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN			3	343	-			97			GOLD.		A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	ENST00000457408.2	37	c.291G>A	CCDS5493.1																																																																																				0.567	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		84	381	0	0	0	1	0	84	381					T	44621144	C	T	44621144	2	4	79	1	0	0	0	0	0	0	0	1	16058	680	24	2		2	TMED4	7	44621144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8898	44621144	114517519	8343	18660											
OGDH	4967	broad.mit.edu	37	chr7	44685096	44685096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccacctggcagtgcaGtcgctcatcagggcatatca	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000222673.5	+	3	435	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGGCAGTGCAGTCGCTCATCA	0.607																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(391-393)caG>caA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						66	54	58					7																	44685096		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44685096G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.393G>A	7.37:g.44685096G>A						OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Silent_p.Q131Q	p.Q131Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	435	+			131					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.393G>A	CCDS34627.1																																																																																				0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			66	270	0	0	0	1	0	66	270					A	44685096	G	A	44685096	2	1	79	1	0	0	0	0	0	0	0	1	10881	1020	36	2		2	OGDH	7	44685096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63952	44685096	114453567	8344	18661											
OGDH	4967	broad.mit.edu	37	chr7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttggccactcatagataCgagggcaccatgtagcacag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000222673.5	+	4	460	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	140					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCATAGATACGAGGGCACCA	0.458																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(418-420)Cga>Tga		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						95	90	91					7																	44687259		2203	4300	6503	SO:0001587	stop_gained	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44687259C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.418C>T	7.37:g.44687259C>T	ENSP00000222673:p.Arg140*					OGDH_ENST00000447398.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*	p.R140*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			4	460	+			140					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Nonsense_Mutation	SNP	ENST00000222673.5	37	c.418C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456488	0.97581	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3707	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000222673:R140X	R	+	1	2	OGDH	44653784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		0.458	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			30	240	0	0	0	1	0	30	240					T	44687259	C	T	44687259	4	4	79	1	0	0	0	0	0	1	0	0	10881	528	19	1	523	1	OGDH	7	44687259	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	44687259	114451404	8345	18662											
OGDH	4967	broad.mit.edu	37	chr7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatctctcaggtatgCcggccgggacccagcggctg	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000222673.5	+	23	2999	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	986					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCAGGTATGCCGGCCGGGAC	0.662																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2956-2958)gCc>gAc		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						43	43	43					7																	44747483		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747483C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2957C>A	7.37:g.44747483C>A	ENSP00000222673:p.Ala986Asp					OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	p.A986D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			23	2999	+			986					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2957C>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924983	0.52759	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.0	4.11	0.48088	.	0.106700	0.64402	D	0.000006	T	0.30947	0.0781	M	0.93507	3.425	0.51482	D	0.999925	B;B;B;B;B	0.29955	0.167;0.263;0.071;0.071;0.071	B;B;B;B;B	0.35182	0.13;0.197;0.128;0.128;0.128	T	0.31223	-0.9951	10	0.87932	D	0	-13.4744	13.1166	0.59303	0.0:0.9208:0.0:0.0792	.	781;836;982;997;986	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	836;982;997;1001;986;937	ENSP00000398576:A836D;ENSP00000392878:A982D;ENSP00000388183:A997D;ENSP00000414662:A1001D;ENSP00000222673:A986D;ENSP00000443821:A937D	ENSP00000222673:A986D	A	+	2	0	OGDH	44714008	0.975000	0.34042	0.441000	0.26858	0.913000	0.54294	2.416000	0.44644	1.233000	0.43693	0.313000	0.20887	GCC		0.662	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			35	377	1	0	9.17885e-22	1	1.03586e-21	35	377					A	44747483	C	A	44747483	3	1	79	1	0	0	0	0	1	0	0	0	10881	739	26	3	3216	3	OGDH	7	44747483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60224	44747483	114391180	8346	18663											
OGDH	4967	broad.mit.edu	37	chr7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgccggccgggacccagCggctgctccagccaccggca	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000222673.5	+	23	3014	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CGGGACCCAGCGGCTGCTCCA	0.652																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2971-2973)gCg>gTg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						47	45	45					7																	44747498		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747498C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2972C>T	7.37:g.44747498C>T	ENSP00000222673:p.Ala991Val					OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	p.A991V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			23	3014	+			991					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2972C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455110	0.96223	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.0	5.0	0.66597	.	0.055387	0.64402	D	0.000001	T	0.38665	0.1049	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.99;0.997;0.997;0.997	P;P;P;P;P	0.55055	0.567;0.567;0.767;0.767;0.767	T	0.57100	-0.7869	10	0.87932	D	0	-18.9093	18.2463	0.89986	0.0:1.0:0.0:0.0	.	786;841;987;1002;991	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	841;987;1002;1006;991;942	ENSP00000398576:A841V;ENSP00000392878:A987V;ENSP00000388183:A1002V;ENSP00000414662:A1006V;ENSP00000222673:A991V;ENSP00000443821:A942V	ENSP00000222673:A991V	A	+	2	0	OGDH	44714023	1.000000	0.71417	0.234000	0.24042	0.894000	0.52154	7.439000	0.80444	2.474000	0.83562	0.313000	0.20887	GCG		0.652	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			76	325	0	0	0	1	0	76	325					T	44747498	C	T	44747498	3	4	79	1	0	0	0	0	1	0	0	0	10881	768	27	1	3231	1	OGDH	7	44747498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	44747498	114391165	8347	18664											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgggccagcactgaagCgctgccgcaccgtgagcccc	14	16	0	2	rs375252619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	702					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCACTGAAGCGCTGCCGCAC	0.677																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2104-2106)Cgc>Tgc		zinc finger, MIZ-type containing 2		C	CYS/ARG,CYS/ARG	0,4222		0,0,2111	28	31	30		2104,2026	4.2	1	7		30	1,8483		0,1,4241	no	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	180,180	0,1,6352	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	702/921,676/895	44805040	1,12705	2111	4242	6353	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805040C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2104C>T	7.37:g.44805040C>T	ENSP00000311778:p.Arg702Cys					ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	p.R702C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2227	+			702					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2104C>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781630	0.90282	0.0	1.18E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.16;1.16;1.16;1.15;1.18	5.14	4.24	0.50183	.	0.000000	0.64402	D	0.000011	T	0.62648	0.2445	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.67007	-0.5779	10	0.56958	D	0.05	-16.8959	13.915	0.63893	0.0:0.9241:0.0:0.0759	.	676;702;644	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	644;702;702;670;676;705	ENSP00000409648:R644C;ENSP00000311778:R702C;ENSP00000414723:R702C;ENSP00000396601:R670C;ENSP00000265346:R676C	ENSP00000265346:R676C	R	+	1	0	ZMIZ2	44771565	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.577000	0.53885	2.686000	0.91538	0.561000	0.74099	CGC		0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		40	153	0	0	0	1	0	40	153					T	44805040	C	T	44805040	3	4	79	1	0	0	0	0	1	0	0	0	17750	768	27	1	2162	1	ZMIZ2	7	44805040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57542	44805040	114333623	8348	18665											
ZMIZ2	83637	broad.mit.edu	37	chr7	44807123	44807123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtcctcagctgctcccGgaactgaccaaccctgatga	8	15	1	3	rs558877764	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000433667.1_Silent_p.P856P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	888	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGCTCCCGGAACTGACCA	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.002				NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2662-2664)ccG>ccA		zinc finger, MIZ-type containing 2							126	140	136					7																	44807123		2054	4196	6250	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44807123G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2664G>A	7.37:g.44807123G>A						ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000463931.1_3'UTR	p.P888P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			19	2787	+			888			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2664G>A	CCDS43576.1																																																																																				0.542	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		37	221	0	0	0	1	0	37	221					A	44807123	G	A	44807123	2	1	79	1	0	0	0	0	0	0	0	1	17750	1103	39	1		1	ZMIZ2	7	44807123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2083	44807123	114331540	8349	18666											
MYO1G	64005	broad.mit.edu	37	chr7	45009400	45009400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagagctgcaggcctcGtccagcacggccaggatgcc	13	16	0	1	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	469	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1405-1407)gaC>gaT		myosin IG		G		1,4405	2.1+/-5.4	0,1,2202	111	113	112		1407	-5.4	0.9	7	dbSNP_134	112	0,8598		0,0,4299	no	coding-synonymous	MYO1G	NM_033054.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		469/1019	45009400	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45009400G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1407C>T	7.37:g.45009400G>A							p.D469D	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			11	1543	-			469			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.1407C>T	CCDS34629.1																																																																																				0.612	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			163	757	0	0	0	1	0	163	757					A	45009400	G	A	45009400	2	1	79	1	0	0	0	0	0	0	0	1	10115	1136	40	1		1	MYO1G	7	45009400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202277	45009400	114129263	8350	18667											
MYO1G	64005	broad.mit.edu	37	chr7	45010479	45010479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctcagctgcagtgtgGcccttctctatgagttccct	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	342	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1024-1026)ggC>ggT		myosin IG							51	46	48					7																	45010479		2203	4300	6503	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010479G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1026C>T	7.37:g.45010479G>A							p.G342G	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			8	1162	-			342			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.1026C>T	CCDS34629.1																																																																																				0.662	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			41	231	0	0	0	1	0	41	231					A	45010479	G	A	45010479	2	1	79	1	0	0	0	0	0	0	0	1	10115	1190	42	2		2	MYO1G	7	45010479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1079	45010479	114128184	8351	18668											
MYO1G	64005	broad.mit.edu	37	chr7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcgagccagcagggagCggagcacgaggtcccggggt	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	324	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(970-972)cGc>cAc		myosin IG							49	41	43					7																	45010534		2202	4300	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010534C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.971G>A	7.37:g.45010534C>T	ENSP00000258787:p.Arg324His						p.R324H	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			8	1107	-			324			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.971G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.40385	N	0.001103	D	0.86443	0.5934	L	0.28014	0.82	0.37491	D	0.916393	D;D	0.69078	0.997;0.985	D;P	0.63192	0.912;0.806	D	0.87855	0.2660	10	0.66056	D	0.02	.	8.4286	0.32744	0.0:0.8224:0.0:0.1776	.	324;324	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	324	ENSP00000258787:R324H	ENSP00000258787:R324H	R	-	2	0	MYO1G	44977059	0.997000	0.39634	0.986000	0.45419	0.288000	0.27193	0.993000	0.29680	1.384000	0.46424	0.655000	0.94253	CGC		0.672	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			31	157	0	0	0	1	0	31	157					T	45010534	C	T	45010534	3	4	79	1	0	0	0	0	1	0	0	0	10115	768	27	1	2145	1	MYO1G	7	45010534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	45010534	114128129	8352	18669											
CCM2	83605	broad.mit.edu	37	chr7	45104190	45104190	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggtgcccatccatgacatCgccgccgtctcctatgttcg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000258781.6	+	4	566	c.417C>T	c.(415-417)atC>atT	p.I139I	CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.I160I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(478-480)atC>atT		cerebral cavernous malformation 2							86	55	66					7																	45104190		2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45104190C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.417C>T	7.37:g.45104190C>T						CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000258781.6_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Silent_p.I139I	p.I160I	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			4	1159	+			139			PID.		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.480C>T	CCDS5500.1																																																																																				0.597	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		28	127	0	0	0	1	0	28	127					T	45104190	C	T	45104190	2	4	79	1	0	0	0	0	0	0	0	1	2917	874	31	1		1	CCM2	7	45104190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93656	45104190	114034473	8353	18670											
CCM2	83605	broad.mit.edu	37	chr7	45109511	45109511	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgactttctggacagagcGatatttgatggggcctctac	11	9	2	2	rs368152116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000258781.6	+	6	845	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CCM2_ENST00000474617.1_Intron|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.A253A	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(757-759)gcG>gcA		cerebral cavernous malformation 2		G	,,,	0,4406		0,0,2203	129	120	123		759,522,,696	-6.1	0.9	7		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	253/466,174/387,,232/445	45109511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45109511G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.696G>A	7.37:g.45109511G>A						CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000258781.6_Silent_p.A232A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron	p.A253A	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			6	1438	+			232					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.759G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611161	0.28712	0.0	1.16E-4	ENSG00000136280	ENST00000480382	.	.	.	5.32	-6.13	0.02118	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	-30.244	3.9718	0.09457	0.5419:0.2266:0.1462:0.0853	.	.	.	.	Q	58	.	.	R	+	2	0	CCM2	45076036	0.012000	0.17670	0.898000	0.35279	0.996000	0.88848	-0.853000	0.04303	-0.789000	0.04498	-0.136000	0.14681	CGA		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		65	379	0	0	0	1	0	65	379					A	45109511	G	A	45109511	2	1	79	1	0	0	0	0	0	0	0	1	2917	1045	37	1		1	CCM2	7	45109511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5321	45109511	114029152	8354	18671											
CCM2	83605	broad.mit.edu	37	chr7	45113169	45113169	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggactacatgctgaCggtaggcctccgctgcaggg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000258781.6	+	8	1063	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CCM2_ENST00000474617.1_Splice_Site_p.T208M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Splice_Site_p.T326M	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	305	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e8+1		cerebral cavernous malformation 2							54	44	48					7																	45113169		2203	4300	6503	SO:0001630	splice_region_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45113169C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.915+1C>T	7.37:g.45113169C>T						CCM2_ENST00000474617.1_Splice_Site_p.T208_splice|CCM2_ENST00000541586.1_Splice_Site_p.T247_splice|CCM2_ENST00000475551.1_Splice_Site_p.T299_splice|CCM2_ENST00000258781.6_Splice_Site_p.T305_splice|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Splice_Site_p.T214_splice	p.T326_splice	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			8	1656	+			305					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Splice_Site	SNP	ENST00000258781.6	37	c.978_splice	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931964	0.92389	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	.	0.049950	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.83275	0.984;0.977;0.882;0.996	T	0.68303	-0.5444	10	0.52906	T	0.07	-11.7598	18.1184	0.89563	0.0:1.0:0.0:0.0	.	326;214;247;305	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	M	305;247;214;299;326;208	ENSP00000258781:T305M;ENSP00000444725:T247M;ENSP00000438035:T214M;ENSP00000417180:T299M;ENSP00000370503:T326M;ENSP00000419474:T208M	ENSP00000258781:T305M	T	+	2	0	CCM2	45079694	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.470000	0.80973	2.622000	0.88805	0.655000	0.94253	ACG		0.657	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443	Missense_Mutation	35	124	0	0	0	1	0	35	124					T	45113169	C	T	45113169	5	4	79	1	0	0	0	0	0	0	1	0	2917	550	19	1	1041	1	CCM2	7	45113169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3658	45113169	114025494	8355	18672											
TBRG4	9238	broad.mit.edu	37	chr7	45144233	45144233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcaagggcacggaccGccggctctgagctgccagca	14	16	1	1	rs143689271		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45144233G>A	ENST00000258770.3	-	4	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TBRG4_ENST00000395655.4_Intron|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	271					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGCACGGACCGCCGGCTCTGA	0.612																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(811-813)Cgg>Tgg		transforming growth factor beta regulator 4		G	TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	64	57	59		811,,	3.8	1	7	dbSNP_134	59	0,8600		0,0,4300	no	missense,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	101,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,	271/632,,	45144233	1,13005	2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45144233G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.811C>T	7.37:g.45144233G>A	ENSP00000258770:p.Arg271Trp					TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000395655.4_Intron	p.R271W	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			4	932	-			271					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.811C>T	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512987	0.64522	2.27E-4	0.0	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.69685	2.75;2.75;0.73;-0.42	5.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.72894	2.215	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80074	-0.1534	10	0.72032	D	0.01	.	12.217	0.54412	0.0:0.0:0.6897:0.3103	.	282;271	B4DU42;Q969Z0	.;TBRG4_HUMAN	W	271;271;236;217	ENSP00000258770:R271W;ENSP00000420597:R271W;ENSP00000418631:R236W;ENSP00000417743:R217W	ENSP00000258770:R271W	R	-	1	2	TBRG4	45110758	1.000000	0.71417	0.978000	0.43139	0.619000	0.37552	3.104000	0.50306	0.698000	0.31739	0.655000	0.94253	CGG		0.612	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		7	297	0	0	0	1	0	7	297					A	45144233	G	A	45144233	3	1	79	1	0	0	0	0	1	0	0	0	15701	1086	38	1	1116	1	TBRG4	7	45144233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31064	45144233	113994430	8356	18673											
TBRG4	9238	broad.mit.edu	37	chr7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcttccgcatgcgccAgcggacctcctgctccaccg	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	174					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(520-522)Tgg>Cgg		transforming growth factor beta regulator 4							74	71	72					7																	45145255		2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45145255A>G	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.520T>C	7.37:g.45145255A>G	ENSP00000258770:p.Trp174Arg					TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R	p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			3	641	-			174					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.520T>C	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796521	0.70567	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76328	2.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.934	T	0.59010	-0.7534	10	0.10636	T	0.68	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	185;174;174	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	174;174;174;174;139;120	ENSP00000258770:W174R;ENSP00000354992:W174R;ENSP00000379016:W174R;ENSP00000420597:W174R;ENSP00000418631:W139R;ENSP00000417743:W120R	ENSP00000258770:W174R	W	-	1	0	TBRG4	45111780	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.126000	0.89592	2.195000	0.70347	0.533000	0.62120	TGG		0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		85	358	0	0	0	1	0	85	358					G	45145255	A	G	45145255	3	3	79	1	0	0	0	0	1	0	0	0	15701	188	7	4	1411	4	TBRG4	7	45145255	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1022	45145255	113993408	8357	18674											
TBRG4	9238	broad.mit.edu	37	chr7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggaggcacgtgcatcGctttaccaggtgagctgcca	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	8					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(22-24)Cga>Tga		transforming growth factor beta regulator 4							48	45	46					7																	45148815		2203	4300	6503	SO:0001587	stop_gained	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45148815G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.22C>T	7.37:g.45148815G>A	ENSP00000258770:p.Arg8*					TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*	p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			2	143	-			8					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Nonsense_Mutation	SNP	ENST00000258770.3	37	c.22C>T	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618423	0.96649	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078	.	.	.	4.91	4.01	0.46588	.	0.884037	0.09884	N	0.743253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9389	0.64043	0.0:0.1533:0.8467:0.0	.	.	.	.	X	8	.	ENSP00000258770:R8X	R	-	1	2	TBRG4	45115340	0.033000	0.19621	0.926000	0.36857	0.857000	0.48899	1.641000	0.37197	1.241000	0.43820	0.655000	0.94253	CGA		0.557	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		31	314	0	0	0	1	0	31	314					A	45148815	G	A	45148815	4	1	79	1	0	0	0	0	0	1	0	0	15701	1095	38	1	1913	1	TBRG4	7	45148815	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3560	45148815	113989848	8358	18675											
ADCY1	107	broad.mit.edu	37	chr7	45614617	45614617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggggggccagcgaccGccgaacaaggggtttggcag	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	ENST00000297323.7	+	1	497	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	159					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccAGCGACCGCCGAACAAGG	0.697																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(475-477)Gcc>Acc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						12	12	12					7																	45614617		2137	4178	6315	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614617G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.475G>A	7.37:g.45614617G>A	ENSP00000297323:p.Ala159Thr					ADCY1_ENST00000432715.1_5'UTR	p.A159T	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	497	+			159					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.475G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756975	0.31137	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80566	-1.39	3.7	2.76	0.32466	.	0.141712	0.47093	D	0.000248	T	0.61451	0.2348	L	0.27053	0.805	0.36257	D	0.854304	B	0.30439	0.279	B	0.19148	0.024	T	0.62201	-0.6904	10	0.28530	T	0.3	.	5.6742	0.17739	0.0:0.2311:0.5639:0.2049	.	159	Q08828	ADCY1_HUMAN	T	159	ENSP00000297323:A159T	ENSP00000297323:A159T	A	+	1	0	ADCY1	45581142	0.964000	0.33143	0.393000	0.26258	0.410000	0.31052	1.931000	0.40134	1.879000	0.54435	0.205000	0.17691	GCC		0.697	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		35	132	0	0	0	1	0	35	132					A	45614617	G	A	45614617	3	1	79	1	0	0	0	0	1	0	0	0	292	1087	38	1	477	1	ADCY1	7	45614617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465802	45614617	113524046	8359	18676											
ADCY1	107	broad.mit.edu	37	chr7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgcagctcatgcactGccggaaaatgttcaaggccg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000297323.7	+	8	1563	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCATGCACTGCCGGAAAATG	0.522																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1540-1542)tGc>tAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						86	73	77					7																	45701749		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45701749G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1541G>A	7.37:g.45701749G>A	ENSP00000297323:p.Cys514Tyr					ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	p.C514Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			8	1563	+			514			Interaction with calmodulin (By similarity).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1541G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162870	0.57368	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.81659	-1.52;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.863;0.992	B;D	0.74023	0.424;0.982	T	0.80070	-0.1536	10	0.02654	T	1	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	514;289	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	289;514;514	ENSP00000392721:C289Y;ENSP00000297323:C514Y	ENSP00000297323:C514Y	C	+	2	0	ADCY1	45668274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	TGC		0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		19	142	0	0	0	1	0	19	142					A	45701749	G	A	45701749	3	1	79	1	0	0	0	0	1	0	0	0	292	1319	46	2	1571	2	ADCY1	7	45701749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87132	45701749	113436914	8360	18677											
ADCY1	107	broad.mit.edu	37	chr7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggtgcccctaccactTtgtgtgccgaggcaaagtca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1035	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTACCACTTTGTGTGCCGA	0.537																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(3103-3105)tTt>tGt		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						95	89	91					7																	45753338		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753338T>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3104T>G	7.37:g.45753338T>G	ENSP00000297323:p.Phe1035Cys						p.F1035C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			20	3126	+			1035			Interaction with calmodulin (By similarity).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3104T>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709070	0.68615	.	.	ENSG00000164742	ENST00000297323	T	0.33438	1.41	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052646	0.85682	D	0.000000	T	0.33089	0.0851	L	0.39566	1.225	0.53005	D	0.999966	B	0.15473	0.013	B	0.37833	0.259	T	0.14117	-1.0484	10	0.18710	T	0.47	.	14.039	0.64663	0.0:0.0:0.0:1.0	.	1035	Q08828	ADCY1_HUMAN	C	1035	ENSP00000297323:F1035C	ENSP00000297323:F1035C	F	+	2	0	ADCY1	45719863	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.599000	0.82757	2.200000	0.70718	0.533000	0.62120	TTT		0.537	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		71	302	0	0	0	1	0	71	302					G	45753338	T	G	45753338	3	3	79	1	0	0	0	0	1	0	0	0	292	1841	64	4	3182	4	ADCY1	7	45753338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51589	45753338	113385325	8361	18678											
TNS3	64759	broad.mit.edu	37	chr7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttctttggggaaccaaTcatgacctttgatacgaagt	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3	1439					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGGAACCAATCATGACCTTT	0.592																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(4315-4317)Att>Gtt		tensin 3							60	65	63					7																	47317697		2107	4251	6358	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47317697T>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4315A>G	7.37:g.47317697T>C	ENSP00000381854:p.Ile1439Val					TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V|TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V	p.I1439V			Q68CZ2	TENS3_HUMAN			31	4681	-			1439					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.4315A>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982934	0.74474	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730	T;T;T	0.42131	0.98;0.98;0.98	5.18	5.18	0.71444	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.280669	0.35936	N	0.002894	T	0.63558	0.2521	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66999	-0.5781	10	0.59425	D	0.04	-31.1124	12.9921	0.58625	0.0:0.0:0.0:1.0	.	1439	Q68CZ2	TENS3_HUMAN	V	1439;1439;1199	ENSP00000312143:I1439V;ENSP00000381854:I1439V;ENSP00000347968:I1199V	ENSP00000312143:I1439V	I	-	1	0	TNS3	47284222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.844000	0.86867	1.963000	0.57068	0.528000	0.53228	ATT		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		36	149	0	0	0	1	0	36	149					C	47317697	T	C	47317697	3	2	79	1	0	0	0	0	1	0	0	0	16396	1435	50	4	26	4	TNS3	7	47317697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1564359	47317697	111820966	8362	18679											
TNS3	64759	broad.mit.edu	37	chr7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagttcattggccaaatctCcagctgtggcaagaaattta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3	1227	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCAAATCTCCAGCTGTGGC	0.433																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3679-3681)gGa>gAa		tensin 3							64	61	62					7																	47333423		1862	4099	5961	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47333423C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3680G>A	7.37:g.47333423C>T	ENSP00000381854:p.Gly1227Glu					TNS3_ENST00000355730.3_Missense_Mutation_p.G987E|TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E	p.G1227E			Q68CZ2	TENS3_HUMAN			25	4046	-			1227			SH2.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3680G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907899	0.72868	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.94793	-3.06;-3.06;-3.52	5.2	4.29	0.51040	SH2 motif (4);	1.364500	0.04355	N	0.356346	D	0.96445	0.8840	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88733	0.3238	10	0.62326	D	0.03	-12.7553	8.8008	0.34907	0.1707:0.6643:0.165:0.0	.	1227	Q68CZ2	TENS3_HUMAN	E	1227;1227;987;683	ENSP00000312143:G1227E;ENSP00000381854:G1227E;ENSP00000347968:G987E	ENSP00000312143:G1227E	G	-	2	0	TNS3	47299948	0.999000	0.42202	0.895000	0.35142	0.974000	0.67602	3.456000	0.53000	1.264000	0.44198	0.655000	0.94253	GGA		0.433	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		39	187	0	0	0	1	0	39	187					T	47333423	C	T	47333423	3	4	79	1	0	0	0	0	1	0	0	0	16396	855	30	2	685	2	TNS3	7	47333423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15726	47333423	111805240	8363	18680											
TNS3	64759	broad.mit.edu	37	chr7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtcggcagcccctgtcGctgtcagcgggatgctgggg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V			Q68CZ2	TENS3_HUMAN	tensin 3	1057					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCCCCTGTCGCTGTCAGCGG	0.667																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3169-3171)gCg>gTg		tensin 3							16	20	19					7																	47342835		2022	4156	6178	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47342835G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3170C>T	7.37:g.47342835G>A	ENSP00000381854:p.Ala1057Val					TNS3_ENST00000355730.3_Missense_Mutation_p.A817V|TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V	p.A1057V			Q68CZ2	TENS3_HUMAN			22	3536	-			1057					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3170C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283027	0.23392	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	2.42	0.29668	.	1.979490	0.02117	N	0.055295	T	0.31827	0.0809	L	0.27053	0.805	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.15954	-1.0419	10	0.22109	T	0.4	-5.5552	2.7835	0.05367	0.2537:0.0:0.5239:0.2224	.	1057	Q68CZ2	TENS3_HUMAN	V	1057;1167;1057;817;513;1160	ENSP00000312143:A1057V;ENSP00000381854:A1057V;ENSP00000347968:A817V;ENSP00000414358:A1160V	ENSP00000312143:A1057V	A	-	2	0	TNS3	47309360	0.033000	0.19621	0.003000	0.11579	0.095000	0.18619	2.044000	0.41241	0.718000	0.32166	0.555000	0.69702	GCG		0.667	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		18	162	0	0	0	1	0	18	162					A	47342835	G	A	47342835	3	1	79	1	0	0	0	0	1	0	0	0	16396	1087	38	1	1207	1	TNS3	7	47342835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9412	47342835	111795828	8364	18681											
TNS3	64759	broad.mit.edu	37	chr7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttaccacgtcctccttTgtgctgactggctgggctgc	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q			Q68CZ2	TENS3_HUMAN	tensin 3	880					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTCCTTTGTGCTGACTG	0.602																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2638-2640)Aaa>Caa		tensin 3							45	52	50					7																	47384365		1937	4144	6081	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384365T>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2638A>C	7.37:g.47384365T>G	ENSP00000381854:p.Lys880Gln					TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q|TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q	p.K880Q			Q68CZ2	TENS3_HUMAN			20	3004	-			880					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2638A>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688120	0.14973	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94232	-2.93;-2.93;-3.38;-3.06	5.55	3.05	0.35203	.	1.937310	0.01889	N	0.038421	D	0.88288	0.6396	L	0.27053	0.805	0.18873	N	0.999984	B	0.30482	0.281	B	0.24701	0.055	T	0.75190	-0.3405	10	0.14252	T	0.57	-2.8134	9.618	0.39704	0.0:0.0:0.3427:0.6573	.	880	Q68CZ2	TENS3_HUMAN	Q	880;990;880;640;336;983	ENSP00000312143:K880Q;ENSP00000381854:K880Q;ENSP00000347968:K640Q;ENSP00000414358:K983Q	ENSP00000312143:K880Q	K	-	1	0	TNS3	47350890	0.292000	0.24362	0.005000	0.12908	0.488000	0.33401	1.377000	0.34317	0.335000	0.23614	0.379000	0.24179	AAA		0.602	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		72	283	0	0	0	1	0	72	283					G	47384365	T	G	47384365	3	3	79	1	0	0	0	0	1	0	0	0	16396	1821	63	4	1747	4	TNS3	7	47384365	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41530	47384365	111754298	8365	18682											
TNS3	64759	broad.mit.edu	37	chr7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccagctcaccttgccGcccggtggccctgctggggc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W			Q68CZ2	TENS3_HUMAN	tensin 3	759					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCACCTTGCCGCCCGGTGGCC	0.637																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2275-2277)Cgg>Tgg		tensin 3							95	107	103					7																	47407968		1974	4150	6124	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47407968G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2275C>T	7.37:g.47407968G>A	ENSP00000381854:p.Arg759Trp					TNS3_ENST00000355730.3_Missense_Mutation_p.R519W|TNS3_ENST00000311160.9_Missense_Mutation_p.R759W	p.R759W			Q68CZ2	TENS3_HUMAN			17	2641	-			759					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2275C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500644	0.64298	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-3.02;-3.02;-3.45;-3.16	4.81	-7.87	0.01183	.	1.491510	0.04198	N	0.329518	D	0.89262	0.6665	L	0.29908	0.895	0.09310	N	0.999994	D	0.56968	0.978	P	0.44477	0.451	D	0.84734	0.0747	10	0.54805	T	0.06	-27.1163	8.7967	0.34883	0.0:0.1648:0.3765:0.4587	.	759	Q68CZ2	TENS3_HUMAN	W	759;869;759;519;215;862	ENSP00000312143:R759W;ENSP00000381854:R759W;ENSP00000347968:R519W;ENSP00000414358:R862W	ENSP00000312143:R759W	R	-	1	2	TNS3	47374493	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.728000	0.04925	-1.169000	0.02772	0.655000	0.94253	CGG		0.637	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		37	1190	0	0	0	1	0	37	1190					A	47407968	G	A	47407968	3	1	79	1	0	0	0	0	1	0	0	0	16396	1086	38	1	2122	1	TNS3	7	47407968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23603	47407968	111730695	8366	18683											
C7orf69	80099	broad.mit.edu	37	chr7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttggtcatggatggaAataactgctggtttcacaaa	10	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000258776.4	+	3	391	c.346A>G	c.(346-348)Aat>Gat	p.N116D	PKD1L1_ENST00000289672.2_Intron|C7orf69_ENST00000418326.2_Missense_Mutation_p.N97D	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	116						extracellular region (GO:0005576)				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408																																						ENST00000418326.2																			0				lung(2)	2						c.(289-291)Aat>Gat		chromosome 7 open reading frame 69							82	79	80					7																	47859172		1889	4126	6015	SO:0001583	missense	80099					extracellular region		g.chr7:47859172A>G	BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275			21911	protein-coding gene	gene with protein product							Standard	NM_025031		Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000258776.4:c.346A>G	7.37:g.47859172A>G	ENSP00000258776:p.Asn116Asp					C7orf69_ENST00000258776.4_Missense_Mutation_p.N116D|PKD1L1_ENST00000289672.2_Intron	p.N97D			Q9H7B7	CG069_HUMAN			4	402	+			116					A4D2F1|Q14CN7|Q75MJ5	Missense_Mutation	SNP	ENST00000258776.4	37	c.289A>G	CCDS43581.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273272	0.23221	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.51817	0.69	4.32	-3.18	0.05186	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.33690	0.168	T	0.18650	-1.0330	9	0.87932	D	0	.	6.1774	0.20451	0.335:0.1688:0.4963:0.0	.	116	Q9H7B7	CG069_HUMAN	D	116;97	ENSP00000258776:N116D	ENSP00000258776:N116D	N	+	1	0	C7orf69	47825697	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.176000	0.09811	-0.459000	0.07013	-0.250000	0.11733	AAT		0.408	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340973.1	NM_025031		28	112	0	0	0	1	0	28	112					G	47859172	A	G	47859172	3	3	79	1	0	0	0	0	1	0	0	0	2421	14	1	4	356	4	C7orf69	7	47859172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451204	47859172	111279491	8367	18684											
PKD1L1	168507	broad.mit.edu	37	chr7	47886656	47886656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccaataaggataaataGcctacactggcatctaaaaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1658					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.G1658G(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						AGGATAAATAGCCTACACTGG	0.393																																						ENST00000289672.2																		BBS9/PKD1L1(2)	1	Substitution - coding silent(1)	p.G1658G(1)	endometrium(1)	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						c.(4972-4974)ggC>ggT		polycystic kidney disease 1 like 1							69	66	67					7																	47886656		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47886656G>A	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.4974C>T	7.37:g.47886656G>A							p.G1658G	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			32	5024	-			1658					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4974C>T	CCDS34633.1																																																																																				0.393	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		44	129	0	0	0	1	0	44	129					A	47886656	G	A	47886656	2	1	79	1	0	0	0	0	0	0	0	1	12006	958	34	2		2	PKD1L1	7	47886656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27484	47886656	111252007	8368	18685											
PKD1L1	168507	broad.mit.edu	37	chr7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaatctgcatactgAagaaattaatgcatcctgta	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1355	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		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						CTGCATACTGAAGAAATTAAT	0.458																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(4063-4065)Tca>Cca		polycystic kidney disease 1 like 1							169	147	155					7																	47906046		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47906046A>G	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.4063T>C	7.37:g.47906046A>G	ENSP00000289672:p.Ser1355Pro						p.S1355P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			25	4113	-			1355			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4063T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822259	0.32237	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	4.94	3.75	0.43078	Egg jelly receptor, REJ-like (1);	0.367956	0.22074	N	0.064993	T	0.37237	0.0996	L	0.60455	1.87	0.26739	N	0.970422	D	0.76494	0.999	D	0.66196	0.942	T	0.12502	-1.0545	10	0.66056	D	0.02	-10.6409	9.1496	0.36955	0.6412:0.3588:0.0:0.0	.	1355	Q8TDX9	PK1L1_HUMAN	P	1355	ENSP00000289672:S1355P	ENSP00000289672:S1355P	S	-	1	0	PKD1L1	47872571	1.000000	0.71417	0.544000	0.28141	0.224000	0.24922	1.602000	0.36783	0.706000	0.31912	0.533000	0.62120	TCA		0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		89	428	0	0	0	1	0	89	428					G	47906046	A	G	47906046	3	3	79	1	0	0	0	0	1	0	0	0	12006	246	9	4	4618	4	PKD1L1	7	47906046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19390	47906046	111232617	8369	18686											
PKD1L1	168507	broad.mit.edu	37	chr7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctcgcacctccaggcCcacacagtagttgctgtaca	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	772	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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)		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						ACCTCCAGGCCCACACAGTAG	0.592																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(2314-2316)Ggc>Tgc		polycystic kidney disease 1 like 1							91	68	75					7																	47933614		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933614C>A	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.2314G>T	7.37:g.47933614C>A	ENSP00000289672:p.Gly772Cys						p.G772C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2364	-			772			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2314G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505172	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	2.19	0.27852	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.393919	0.21761	N	0.069506	T	0.70684	0.3252	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.58645	-0.7600	10	0.44086	T	0.13	-13.2627	8.0761	0.30718	0.0:0.4701:0.441:0.089	.	772	Q8TDX9	PK1L1_HUMAN	C	772	ENSP00000289672:G772C	ENSP00000289672:G772C	G	-	1	0	PKD1L1	47900139	0.000000	0.05858	0.385000	0.26158	0.847000	0.48162	0.447000	0.21710	0.570000	0.29347	0.543000	0.68304	GGC		0.592	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		14	306	1	0	1.05317e-09	1	1.11087e-09	14	306					A	47933614	C	A	47933614	3	1	79	1	0	0	0	0	1	0	0	0	12006	623	22	3	6407	3	PKD1L1	7	47933614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27568	47933614	111205049	8370	18687											
PKD1L1	168507	broad.mit.edu	37	chr7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataccttctgcctggaagCtgatgaggatgggctctgtg	14	8	2	2	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	91					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)		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						TGCCTGGAAGCTGATGAGGAT	0.463																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(271-273)Gct>Act		polycystic kidney disease 1 like 1							158	134	142					7																	47979804		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47979804C>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.271G>A	7.37:g.47979804C>T	ENSP00000289672:p.Ala91Thr						p.A91T	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			3	321	-			91					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.271G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899348	0.33535	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	2.82	0.899	0.19271	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34301	0.179	T	0.19647	-1.0299	9	0.42905	T	0.14	-0.8432	8.89	0.35427	0.0:0.5528:0.4472:0.0	.	91	Q8TDX9	PK1L1_HUMAN	T	91	ENSP00000289672:A91T	ENSP00000289672:A91T	A	-	1	0	PKD1L1	47946329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.231000	0.21079	-0.156000	0.13503	GCT		0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		69	334	0	0	0	1	0	69	334					T	47979804	C	T	47979804	3	4	79	1	0	0	0	0	1	0	0	0	12006	797	28	2	8498	2	PKD1L1	7	47979804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46190	47979804	111158859	8371	18688											
HUS1	3364	broad.mit.edu	37	chr7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctactcaccagctccaCggagaccgtgaggcagggaa	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	117					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(349-351)Gtg>Atg	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							71	66	68					7																	48018022		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48018022C>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.349G>A	7.37:g.48018022C>T	ENSP00000258774:p.Val117Met					HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	p.V117M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			3	372	-		Breast(660;0.00139)	117					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.349G>A	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757039	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.31	-0.114	0.13564	.	0.364925	0.30869	N	0.008711	T	0.15392	0.0371	M	0.69823	2.125	0.23598	N	0.997329	D	0.56287	0.975	P	0.53760	0.734	T	0.22941	-1.0202	10	0.14252	T	0.57	-8.5017	5.1699	0.15105	0.0:0.4099:0.2794:0.3107	.	117	O60921	HUS1_HUMAN	M	117;96;96;96	ENSP00000258774:V117M;ENSP00000416588:V96M;ENSP00000404855:V96M;ENSP00000398806:V96M	ENSP00000258774:V117M	V	-	1	0	HUS1	47984547	0.981000	0.34729	0.011000	0.14972	0.489000	0.33432	2.449000	0.44935	-0.345000	0.08325	0.655000	0.94253	GTG		0.443	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		51	237	0	0	0	1	0	51	237					T	48018022	C	T	48018022	3	4	79	1	0	0	0	0	1	0	0	0	7489	536	19	1	517	1	HUS1	7	48018022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38218	48018022	111120641	8372	18689											
ABCA13	154664	broad.mit.edu	37	chr7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagagatacaagacctgGcagaggaaattcatggaatg	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	122					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ACAAGACCTGGCAGAGGAAAT	0.398																																						ENST00000435803.1																			0				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						c.(364-366)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 13							92	88	89					7																	48259027		1829	4086	5915	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259027G>A	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.364G>A	7.37:g.48259027G>A	ENSP00000411096:p.Ala122Thr						p.A122T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	388	+			122					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.364G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499576	0.64298	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.58	4.69	0.59074	.	0.000000	0.47455	D	0.000231	D	0.90916	0.7145	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65233	0.859;0.933	D	0.90794	0.4689	10	0.51188	T	0.08	.	12.2406	0.54540	0.0:0.0:0.8302:0.1698	.	122;122	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	T	122	ENSP00000411096:A122T	ENSP00000409268:A122T	A	+	1	0	ABCA13	48229573	0.834000	0.29399	0.069000	0.20011	0.532000	0.34746	1.626000	0.37039	1.466000	0.48025	0.655000	0.94253	GCA		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		95	308	0	0	0	1	0	95	308					A	48259027	G	A	48259027	3	1	79	1	0	0	0	0	1	0	0	0	31	1203	42	2	207	2	ABCA13	7	48259027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241005	48259027	110879636	8373	18690											
ABCA13	154664	broad.mit.edu	37	chr7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaattcatggaatgatgGacaaggcaaaaaacttaaaa	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						TGGAATGATGGACAAGGCAAA	0.423																																						ENST00000435803.1																			0				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						c.(388-390)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 13							118	112	114					7																	48259051		1856	4099	5955	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259051G>A	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.388G>A	7.37:g.48259051G>A	ENSP00000411096:p.Asp130Asn						p.D130N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	412	+			130					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.388G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391810	0.25118	.	.	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	B;B	0.15141	0.002;0.012	B;B	0.14578	0.003;0.011	T	0.02610	-1.1134	10	0.27785	T	0.31	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	N	130	ENSP00000411096:D130N	ENSP00000409268:D130N	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		100	389	0	0	0	1	0	100	389					A	48259051	G	A	48259051	3	1	79	1	0	0	0	0	1	0	0	0	31	1174	41	2	231	2	ABCA13	7	48259051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	48259051	110879612	8374	18691											
ABCA13	154664	broad.mit.edu	37	chr7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaggaaaaagagctaAattggaaaacttctttacac	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	849					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						AAAAGAGCTAAATTGGAAAAC	0.299																																						ENST00000435803.1																			0				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						c.(2545-2547)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 13							36	36	36					7																	48311809		1784	4057	5841	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311809A>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.2546A>C	7.37:g.48311809A>C	ENSP00000411096:p.Lys849Thr						p.K849T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2570	+			849					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2546A>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125226	0.06795	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	5.86	3.45	0.39498	.	0.650904	0.14020	N	0.346875	T	0.76912	0.4054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58934	-0.7548	10	0.17832	T	0.49	.	6.849	0.24005	0.5738:0.2762:0.0:0.15	.	849	Q86UQ4	ABCAD_HUMAN	T	849	ENSP00000411096:K849T	ENSP00000411096:K849T	K	+	2	0	ABCA13	48282355	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.306000	0.19279	0.461000	0.27071	-0.299000	0.09455	AAA		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		39	182	0	0	0	1	0	39	182					C	48311809	A	C	48311809	3	2	79	1	0	0	0	0	1	0	0	0	31	14	1	4	2441	4	ABCA13	7	48311809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52758	48311809	110826854	8375	18692											
ABCA13	154664	broad.mit.edu	37	chr7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatattgtacttactacaGtctttgaaaaagagaagaaa	6	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1477					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ACTTACTACAGTCTTTGAAAA	0.279																																						ENST00000435803.1																			0				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						c.(4429-4431)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 13							24	25	24					7																	48313692		1799	4036	5835	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313692G>A	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.4429G>A	7.37:g.48313692G>A	ENSP00000411096:p.Val1477Ile						p.V1477I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4453	+			1477					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4429G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016142	0.07681	.	.	ENSG00000179869	ENST00000435803	D	0.86230	-2.09	5.44	0.957	0.19613	.	0.864468	0.09652	N	0.773524	T	0.74619	0.3740	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.57359	-0.7825	9	.	.	.	.	0.6646	0.00848	0.2633:0.1254:0.3668:0.2445	.	1477	Q86UQ4	ABCAD_HUMAN	I	1477	ENSP00000411096:V1477I	.	V	+	1	0	ABCA13	48284238	0.092000	0.21681	0.047000	0.18901	0.509000	0.34042	0.727000	0.25999	0.369000	0.24510	-0.251000	0.11542	GTC		0.279	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	66	0	0	0	1	0	12	66					A	48313692	G	A	48313692	3	1	79	1	0	0	0	0	1	0	0	0	31	1029	36	2	4324	2	ABCA13	7	48313692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1883	48313692	110824971	8376	18693											
ABCA13	154664	broad.mit.edu	37	chr7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcaaatatcaccaaggAagacttcgcaattgtgataa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1789					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						ATCACCAAGGAAGACTTCGCA	0.388																																						ENST00000435803.1																			0				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						c.(5365-5367)gAa>gGa		ATP-binding cassette, sub-family A (ABC1), member 13							49	47	48					7																	48314629		1874	4118	5992	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314629A>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.5366A>G	7.37:g.48314629A>G	ENSP00000411096:p.Glu1789Gly						p.E1789G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5390	+			1789					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5366A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606263	0.46527	.	.	ENSG00000179869	ENST00000435803	T	0.19938	2.11	5.92	4.74	0.60224	.	0.131057	0.34314	N	0.004079	T	0.31734	0.0806	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.02365	-1.1170	9	.	.	.	.	11.2484	0.49010	0.8471:0.1529:0.0:0.0	.	1789	Q86UQ4	ABCAD_HUMAN	G	1789	ENSP00000411096:E1789G	.	E	+	2	0	ABCA13	48285175	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.938000	0.56583	1.029000	0.39812	0.455000	0.32223	GAA		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		37	146	0	0	0	1	0	37	146					G	48314629	A	G	48314629	3	3	79	1	0	0	0	0	1	0	0	0	31	246	9	4	5261	4	ABCA13	7	48314629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	937	48314629	110824034	8377	18694											
ABCA13	154664	broad.mit.edu	37	chr7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcaagatttatttaatgCccttctcagggaaacttcaa	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1																			0				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						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40	40	40					7																	48317894		1803	4069	5872	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val						p.A2368V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7127	+			2368					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7103C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	95	0	0	0	1	0	14	95					T	48317894	C	T	48317894	3	4	79	1	0	0	0	0	1	0	0	0	31	739	26	2	7002	2	ABCA13	7	48317894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3265	48317894	110820769	8378	18695											
ABCA13	154664	broad.mit.edu	37	chr7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagaaaaccagttgcacattGatgtagacaaacttactgaa	7	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3390					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						GTTGCACATTGATGTAGACAA	0.383																																						ENST00000435803.1																			0				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						c.(10168-10170)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 13							60	60	60					7																	48378016		1892	4104	5996	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48378016G>A	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.10168G>A	7.37:g.48378016G>A	ENSP00000411096:p.Asp3390Asn						p.D3390N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			29	10192	+			3390					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10168G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935998	0.52972	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000085	D	0.89574	0.6754	L	0.56199	1.76	0.80722	D	1	P;D	0.71674	0.859;0.998	B;D	0.70935	0.301;0.971	D	0.88033	0.2776	10	0.34782	T	0.22	.	14.7439	0.69477	0.0:0.0:1.0:0.0	.	1092;3390	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3390	ENSP00000411096:D3390N	ENSP00000411096:D3390N	D	+	1	0	ABCA13	48348562	0.998000	0.40836	0.053000	0.19242	0.011000	0.07611	2.561000	0.45905	2.527000	0.85204	0.563000	0.77884	GAT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	46	0	0	0	1	0	6	46					A	48378016	G	A	48378016	3	1	79	1	0	0	0	0	1	0	0	0	31	1290	45	2	10111	2	ABCA13	7	48378016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60122	48378016	110760647	8379	18696											
ABCA13	154664	broad.mit.edu	37	chr7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatgccccggttgctagCcatcatctccaaagctaagg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4593					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						CGGTTGCTAGCCATCATCTCC	0.448																																						ENST00000435803.1																			0				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						c.(13777-13779)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							166	163	164					7																	48556458		1952	4155	6107	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556458C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13778C>T	7.37:g.48556458C>T	ENSP00000411096:p.Ala4593Val					ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	p.A4593V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			52	13802	+			4593					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13778C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848013	0.71603	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.08;-2.24;-2.2	5.35	4.47	0.54385	.	0.000000	0.49305	D	0.000152	D	0.91778	0.7399	M	0.70595	2.14	0.41246	D	0.986678	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.91635	0.939;0.982;0.999	D	0.91041	0.4871	10	0.42905	T	0.14	.	11.201	0.48741	0.0:0.9155:0.0:0.0845	.	323;2295;4593	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4593;366;323	ENSP00000411096:A4593V;ENSP00000391042:A366V;ENSP00000442634:A323V	ENSP00000391042:A366V	A	+	2	0	ABCA13	48527004	0.909000	0.30893	0.973000	0.42090	0.979000	0.70002	1.548000	0.36201	1.233000	0.43693	0.655000	0.94253	GCC		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		105	433	0	0	0	1	0	105	433					T	48556458	C	T	48556458	3	4	79	1	0	0	0	0	1	0	0	0	31	739	26	2	13813	2	ABCA13	7	48556458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178442	48556458	110582205	8380	18697											
VWC2	375567	broad.mit.edu	37	chr7	49842318	49842318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcaggtgtctccatgCgagaggtgtcgctgtgaagc	15	8	2	2	rs201624892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	236	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(706-708)tgC>tgT		von Willebrand factor C domain containing 2		C		0,4406		0,0,2203	235	190	205		708	-2.6	0.9	7		205	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	VWC2	NM_198570.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		236/326	49842318	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842318C>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.708C>T	7.37:g.49842318C>T							p.C236C	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			3	1264	+			236			VWFC 2.		Q6UXE2	Silent	SNP	ENST00000340652.4	37	c.708C>T	CCDS5508.1																																																																																				0.507	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		99	466	0	0	0	1	0	99	466					T	49842318	C	T	49842318	2	4	79	1	0	0	0	0	0	0	0	1	17297	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1285860	49842318	109296345	8381	18698											
IKZF1	10320	broad.mit.edu	37	chr7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcctgtgaaatgaatgGggaagaatgtgcggaggatt	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	75					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(223-225)gGg>gTg		IKAROS family zinc finger 1 (Ikaros)							148	153	152					7																	50444294		1977	4157	6134	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444294G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.224G>T	7.37:g.50444294G>T	ENSP00000331614:p.Gly75Val					IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V	p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	379	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	75					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.224G>T		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169750	0.57584	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07800	3.31;3.16;4.22;3.38;3.31;3.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14924	-1.0455	9	0.87932	D	0	-15.7728	17.4837	0.87682	0.0:0.0:1.0:0.0	.	75;75	Q13422-7;Q13422	.;IKZF1_HUMAN	V	75	ENSP00000352123:G75V;ENSP00000401507:G75V;ENSP00000342485:G75V;ENSP00000349928:G75V;ENSP00000331614:G75V;ENSP00000413025:G75V	ENSP00000331614:G75V	G	+	2	0	IKZF1	50411788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.651000	0.67951	2.204000	0.70986	0.313000	0.20887	GGG		0.488	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		94	342	1	0	2.01309e-51	1	2.49808e-51	94	342					T	50444294	G	T	50444294	3	4	79	1	0	0	0	0	1	0	0	0	7644	1232	43	3	234	3	IKZF1	7	50444294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601976	50444294	108694369	8382	18699											
IKZF1	10320	broad.mit.edu	37	chr7	50444451	50444451	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgtgggatcatttgcatCgggcccaatgtgctcatggt	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(379-381)atC>atT		IKAROS family zinc finger 1 (Ikaros)							64	65	65					7																	50444451		1947	4158	6105	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444451C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.381C>T	7.37:g.50444451C>T						IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I	p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	536	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	127					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.381C>T																																																																																					0.517	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		39	198	0	0	0	1	0	39	198					T	50444451	C	T	50444451	2	4	79	1	0	0	0	0	0	0	0	1	7644	874	31	1		1	IKZF1	7	50444451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	50444451	108694212	8383	18700											
IKZF1	10320	broad.mit.edu	37	chr7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctatgcctcagaaatttCttggtaagagttaaatgttt	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(847-849)Ctt>Att		IKAROS family zinc finger 1 (Ikaros)							46	45	45					7																	50459558		1834	4093	5927	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50459558C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.847C>A	7.37:g.50459558C>A	ENSP00000331614:p.Leu283Ile					IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron	p.L283I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			7	1002	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	283					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.847C>A		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136583	0.37728	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T	0.06142	3.34;3.46;3.43;3.34;3.46	5.23	4.35	0.52113	.	0.060996	0.64402	D	0.000004	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B	0.22480	0.07;0.01;0.042	B;B;B	0.21360	0.034;0.03;0.015	T	0.38542	-0.9656	9	0.14252	T	0.57	-18.0347	13.6093	0.62068	0.0:0.2506:0.7494:0.0	.	196;241;283	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	I	196;241;283;196;241	ENSP00000342750:L196I;ENSP00000352123:L241I;ENSP00000331614:L283I;ENSP00000396554:L196I;ENSP00000413025:L241I	ENSP00000331614:L283I	L	+	1	0	IKZF1	50427052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	1.192000	0.43071	0.563000	0.77884	CTT		0.408	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		18	77	1	0	3.52763e-06	1	3.62938e-06	18	77					A	50459558	C	A	50459558	3	1	79	1	0	0	0	0	1	0	0	0	7644	913	32	3	869	3	IKZF1	7	50459558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15107	50459558	108679105	8384	18701											
IKZF1	10320	broad.mit.edu	37	chr7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccacatgggctgccacgGcttccgtgatccttttgagt	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	485					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		29	Unknown(28)|Substitution - Missense(1)	p.?(28)|p.G485D(1)	haematopoietic_and_lymphoid_tissue(28)|large_intestine(1)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1453-1455)gGc>gTc		IKAROS family zinc finger 1 (Ikaros)							48	55	52					7																	50468219		2192	4296	6488	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468219G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1454G>T	7.37:g.50468219G>T	ENSP00000331614:p.Gly485Val					IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V	p.G485V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1609	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	485					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1454G>T		.	.	.	.	.	.	.	.	.	.	G	31	5.065362	0.93898	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71748	-0.4499	9	0.72032	D	0.01	-5.2298	19.9376	0.97146	0.0:0.0:1.0:0.0	.	398;255;398;443;485	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	255;398;443;342;398;485;398;443	ENSP00000340080:G255V;ENSP00000342750:G398V;ENSP00000352123:G443V;ENSP00000342485:G342V;ENSP00000349928:G398V;ENSP00000331614:G485V;ENSP00000396554:G398V;ENSP00000413025:G443V	ENSP00000331614:G485V	G	+	2	0	IKZF1	50435713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.899000	0.87370	2.711000	0.92665	0.655000	0.94253	GGC		0.587	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		45	189	1	0	2.37825e-27	1	2.75276e-27	45	189					T	50468219	G	T	50468219	3	4	79	1	0	0	0	0	1	0	0	0	7644	1203	42	3	1480	3	IKZF1	7	50468219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8661	50468219	108670444	8385	18702											
GRB10	2887	broad.mit.edu	37	chr7	50685801	50685801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgactgccatttgactgCtggcaccaagtaaccatctg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000401949.1	-	10	1282	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000403097.1_Silent_p.Q265Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000335866.3_Silent_p.Q213Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	271					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(793-795)caG>caA		growth factor receptor-bound protein 10							98	92	94					7																	50685801		1846	4099	5945	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50685801C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.813G>A	7.37:g.50685801C>T						GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000401949.1_Silent_p.Q271Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q	p.Q265Q			Q13322	GRB10_HUMAN			9	1575	-	Glioma(55;0.08)|all_neural(89;0.245)		271					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.795G>A	CCDS43582.1																																																																																				0.403	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			64	249	0	0	0	1	0	64	249					T	50685801	C	T	50685801	2	4	79	1	0	0	0	0	0	0	0	1	6786	796	28	2		2	GRB10	7	50685801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217582	50685801	108452862	8386	18703											
GRB10	2887	broad.mit.edu	37	chr7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttcactaaagactttaAcatcctgcaacacacaaagg	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000401949.1	-	8	978	c.509T>G	c.(508-510)gTt>gGt	p.V170G	GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000403097.1_Missense_Mutation_p.V164G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	170	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(490-492)gTt>gGt		growth factor receptor-bound protein 10							216	211	212					7																	50694671		1936	4138	6074	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50694671A>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.509T>G	7.37:g.50694671A>C	ENSP00000385770:p.Val170Gly					GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000401949.1_Missense_Mutation_p.V170G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G	p.V164G			Q13322	GRB10_HUMAN			7	1271	-	Glioma(55;0.08)|all_neural(89;0.245)		170					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.491T>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471788	0.84533	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.18	5.18	0.71444	Ras-association (3);	0.059542	0.64402	D	0.000002	T	0.46132	0.1377	M	0.73598	2.24	0.80722	D	1	D;D;D	0.62365	0.991;0.987;0.985	D;P;D	0.68039	0.94;0.875;0.955	T	0.49844	-0.8896	10	0.87932	D	0	-16.112	15.0634	0.71973	1.0:0.0:0.0:0.0	.	164;170;170	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	170;164;112;112;112;164;112;170;112;170;112	ENSP00000381793:V170G;ENSP00000406716:V164G;ENSP00000338543:V112G;ENSP00000381790:V112G;ENSP00000385189:V112G;ENSP00000385544:V164G;ENSP00000385366:V112G;ENSP00000349818:V170G;ENSP00000385046:V112G;ENSP00000385770:V170G;ENSP00000385748:V112G	ENSP00000338543:V112G	V	-	2	0	GRB10	50662165	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.339000	0.96797	1.961000	0.56991	0.533000	0.62120	GTT		0.383	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			187	815	0	0	0	1	0	187	815					C	50694671	A	C	50694671	3	2	79	1	0	0	0	0	1	0	0	0	6786	43	2	4	1323	4	GRB10	7	50694671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8870	50694671	108443992	8387	18704											
COBL	23242	broad.mit.edu	37	chr7	51092833	51092833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctcgcagcccctgtgccGgagcggatggcgtccatcaa	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000265136.7	-	12	3906	c.3741C>T	c.(3739-3741)tcC>tcT	p.S1247S	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.S1329S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1247	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCCTGTGCCGGAGCGGATGG	0.632																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3985-3987)tcC>tcT		cordon-bleu WH2 repeat protein							122	121	121					7																	51092833		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51092833G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3741C>T	7.37:g.51092833G>A						COBL_ENST00000265136.7_Silent_p.S1247S	p.S1329S			O75128	COBL_HUMAN			14	4171	-	Glioma(55;0.08)		1247					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3987C>T	CCDS34637.1																																																																																				0.632	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		149	777	0	0	0	1	0	149	777					A	51092833	G	A	51092833	2	1	79	1	0	0	0	0	0	0	0	1	3662	1103	39	1		1	COBL	7	51092833	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398162	51092833	108045830	8388	18705											
COBL	23242	broad.mit.edu	37	chr7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtctctggacaacaGgtttgaattttttcttcggc	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000265136.7	-	10	3455	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGACAACAGGTTTGAATTT	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3535-3537)cCt>cTt		cordon-bleu WH2 repeat protein							179	160	167					7																	51095503		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095503G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3290C>T	7.37:g.51095503G>A	ENSP00000265136:p.Pro1097Leu					COBL_ENST00000265136.7_Missense_Mutation_p.P1097L	p.P1179L			O75128	COBL_HUMAN			12	3720	-	Glioma(55;0.08)		1097					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3536C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808808	0.70797	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.62105	0.08;0.26;0.15;0.05	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.70237	0.3201	L	0.36672	1.1	0.49051	D	0.999742	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.72903	-0.4151	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.8378:0.1622	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1097;989;982;1179	ENSP00000265136:P1097L;ENSP00000401204:P989L;ENSP00000413498:P982L;ENSP00000378912:P1179L	ENSP00000265136:P1097L	P	-	2	0	COBL	51062997	1.000000	0.71417	0.088000	0.20740	0.969000	0.65631	5.495000	0.66912	2.440000	0.82611	0.563000	0.77884	CCT		0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		123	538	0	0	0	1	0	123	538					A	51095503	G	A	51095503	3	1	79	1	0	0	0	0	1	0	0	0	3662	1000	35	2	511	2	COBL	7	51095503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2670	51095503	108043160	8389	18706											
COBL	23242	broad.mit.edu	37	chr7	51096022	51096022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggcaccatccttccatCcttgtgtctctgagtgtggg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51096022C>T	ENST00000265136.7	-	10	2936	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COBL_ENST00000395542.2_Missense_Mutation_p.G1006E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	924					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCTTCCATCCTTGTGTCTC	0.592																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3016-3018)gGa>gAa		cordon-bleu WH2 repeat protein							112	82	92					7																	51096022		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096022C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2771G>A	7.37:g.51096022C>T	ENSP00000265136:p.Gly924Glu					COBL_ENST00000265136.7_Missense_Mutation_p.G924E	p.G1006E			O75128	COBL_HUMAN			12	3201	-	Glioma(55;0.08)		924					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3017G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766409	0.02974	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10860	2.84;2.83;2.84;2.84	3.4	-2.19	0.07015	.	2.794910	0.01829	N	0.034593	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.43938	0.386;0.386;0.294;0.228;0.822	B;B;B;B;P	0.46543	0.124;0.178;0.057;0.083;0.52	T	0.14254	-1.0479	10	0.16420	T	0.52	.	0.8905	0.01253	0.2411:0.1759:0.3627:0.2203	.	924;981;924;1006;466	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	924;816;809;1006	ENSP00000265136:G924E;ENSP00000401204:G816E;ENSP00000413498:G809E;ENSP00000378912:G1006E	ENSP00000265136:G924E	G	-	2	0	COBL	51063516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.883000	0.04170	-0.642000	0.05480	0.557000	0.71058	GGA		0.592	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	326	0	0	0	1	0	8	326					T	51096022	C	T	51096022	3	4	79	1	0	0	0	0	1	0	0	0	3662	855	30	2	1030	2	COBL	7	51096022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	51096022	108042641	8390	18707											
COBL	23242	broad.mit.edu	37	chr7	51097021	51097021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcctcccttgcctttTcatggggctggctgtgctca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51097021T>C	ENST00000265136.7	-	10	1937	c.1772A>G	c.(1771-1773)gAa>gGa	p.E591G	COBL_ENST00000395542.2_Missense_Mutation_p.E673G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	591					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTTGCCTTTTCATGGGGCTG	0.537																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2017-2019)gAa>gGa		cordon-bleu WH2 repeat protein							69	59	62					7																	51097021		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51097021T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1772A>G	7.37:g.51097021T>C	ENSP00000265136:p.Glu591Gly					COBL_ENST00000265136.7_Missense_Mutation_p.E591G	p.E673G			O75128	COBL_HUMAN			12	2202	-	Glioma(55;0.08)		591					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2018A>G	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.93|11.93	1.784582|1.784582	0.31593|0.31593	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15|.	5.59|5.59	-6.78|-6.78	0.01721|0.01721	.|.	6.206590|.	0.00725|.	N|.	0.000909|.	T|.	0.06325|.	0.0163|.	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|.	0.29305|.	-1.0016|.	10|.	0.22706|.	T|.	0.39|.	.|.	1.6637|1.6637	0.02797|0.02797	0.419:0.164:0.2654:0.1516|0.419:0.164:0.2654:0.1516	.|.	591;648;591;673;133|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	G|W	591;483;476;673;89|566	ENSP00000265136:E591G;ENSP00000401204:E483G;ENSP00000413498:E476G;ENSP00000378912:E673G|.	ENSP00000265136:E591G|.	E|X	-|-	2|3	0|0	COBL|COBL	51064515|51064515	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.893000|-0.893000	0.04127|0.04127	-0.959000|-0.959000	0.03618|0.03618	-0.850000|-0.850000	0.03035|0.03035	GAA|TGA		0.537	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	279	0	0	0	1	0	8	279					C	51097021	T	C	51097021	3	2	79	1	0	0	0	0	1	0	0	0	3662	1783	62	4	2029	4	COBL	7	51097021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	999	51097021	108041642	8391	18708											
VSTM2A	222008	broad.mit.edu	37	chr7	54612463	54612463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacctggatcccggggcCgagggggccggcgcgcaggt	21	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000407838.3	+	2	634	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000302287.3_Silent_p.A76A	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	76	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(226-228)gcC>gcT		V-set and transmembrane domain containing 2A							13	16	15					7																	54612463		2194	4294	6488	SO:0001819	synonymous_variant	222008					extracellular region		g.chr7:54612463C>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.228C>T	7.37:g.54612463C>T						VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000407838.3_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A	p.A76A			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		2	634	+			76			Ig-like V-type.		A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	c.228C>T	CCDS5512.2																																																																																				0.736	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		50	90	0	0	0	1	0	50	90					T	54612463	C	T	54612463	2	4	79	1	0	0	0	0	0	0	0	1	17283	639	23	1		1	VSTM2A	7	54612463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3515442	54612463	104526200	8392	18709											
SEC61G	23480	broad.mit.edu	37	chr7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccttttctatcaggttTagtgcatcttttaaccagcc	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|RP11-745C15.2_ENST00000439413.2_RNA|SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q			P60059	SC61G_HUMAN	Sec61 gamma subunit	27					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)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353																																						ENST00000415949.1																			0				kidney(1)|lung(5)	6						c.(79-81)Aaa>Caa		Sec61 gamma subunit							122	112	115					7																	54825203		2203	4300	6503	SO:0001583	missense	23480				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:54825203T>G	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.79A>C	7.37:g.54825203T>G	ENSP00000388337:p.Lys27Gln					SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q|SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q	p.K27Q			P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		3	445	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		27					B2R4J0|P38384|Q6IB25	Missense_Mutation	SNP	ENST00000415949.1	37	c.79A>C	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428133	0.83667	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.51	5.51	0.81932	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	.	.	.	0.80722	D	1	B	0.32188	0.359	B	0.44133	0.442	T	0.70894	-0.4748	8	0.87932	D	0	-5.6354	13.5768	0.61879	0.0:0.0:0.0:1.0	.	27	P60059	SC61G_HUMAN	Q	27	.	ENSP00000341538:K27Q	K	-	1	0	SEC61G	54792697	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.448000	0.80631	2.093000	0.63338	0.533000	0.62120	AAA		0.353	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		58	250	0	0	0	1	0	58	250					G	54825203	T	G	54825203	3	3	79	1	0	0	0	0	1	0	0	0	14053	1763	61	4	139	4	SEC61G	7	54825203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212740	54825203	104313460	8393	18710											
EGFR	1956	broad.mit.edu	37	chr7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggatcggcctcttcatgCgaaggcgccacatcgttcgg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000275493.2	+	17	2182	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	669					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R669*(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTCTTCATGCGAAGGCGCCA	0.667		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Nonsense(1)	p.R669*(1)	endometrium(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2005-2007)Cga>Tga		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						79	72	75					7																	55240761		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240761C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2005C>T	7.37:g.55240761C>T	ENSP00000275493:p.Arg669*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*	p.R669*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2182	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		669					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.2005C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	41	8.579219	0.98870	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	.	.	.	5.96	1.75	0.24633	.	0.048957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2219	0.43203	0.4977:0.3801:0.1222:0.0	.	.	.	.	X	624;539;669;616;463	.	ENSP00000275493:R669X	R	+	1	2	EGFR	55208255	1.000000	0.71417	0.677000	0.29947	0.924000	0.55760	1.702000	0.37836	0.348000	0.23949	0.655000	0.94253	CGA		0.667	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		73	356	0	0	0	1	0	73	356					T	55240761	C	T	55240761	4	4	79	1	0	0	0	0	0	1	0	0	4983	760	27	1	2335	1	EGFR	7	55240761	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415558	55240761	103897902	8394	18711											
EGFR	1956	broad.mit.edu	37	chr7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcggctgcctcctggActatgtccgggaacacaaag	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000275493.2	+	20	2576	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR_ENST00000455089.1_Missense_Mutation_p.D755G|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCTCCTGGACTATGTCCGG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2398-2400)gAc>gGc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93	81	85					7																	55249101		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249101A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2399A>G	7.37:g.55249101A>G	ENSP00000275493:p.Asp800Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G	p.D800G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2576	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		800			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2399A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740451	0.89573	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	L	0.49571	1.57	0.80722	D	1	P;D	0.89917	0.596;1.0	P;D	0.83275	0.464;0.996	T	0.77101	-0.2712	10	0.87932	D	0	.	15.1766	0.72916	1.0:0.0:0.0:0.0	.	755;800	Q504U8;P00533	.;EGFR_HUMAN	G	755;670;800;747	ENSP00000415559:D755G;ENSP00000275493:D800G;ENSP00000395243:D747G	ENSP00000275493:D800G	D	+	2	0	EGFR	55216595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.303000	0.96183	2.255000	0.74692	0.533000	0.62120	GAC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		75	311	0	0	0	1	0	75	311					G	55249101	A	G	55249101	3	3	79	1	0	0	0	0	1	0	0	0	4983	275	10	4	2741	4	EGFR	7	55249101	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8340	55249101	103889562	8395	18712											
LANCL2	55915	broad.mit.edu	37	chr7	55459508	55459508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcataatttcataagacGgatccagaccaaaattaaag	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55459508G>A	ENST00000254770.2	+	2	805	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	76					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTCATAAGACGGATCCAGACC	0.388																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(226-228)cGg>cAg		LanC lantibiotic synthetase component C-like 2 (bacterial)							73	73	73					7																	55459508		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55459508G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.227G>A	7.37:g.55459508G>A	ENSP00000254770:p.Arg76Gln						p.R76Q	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		2	805	+	Breast(14;0.0379)		76					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.227G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300651	0.40694	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.79	3.9	0.45041	Six-hairpin glycosidase-like (1);	0.240562	0.38436	N	0.001685	T	0.39784	0.1091	M	0.68593	2.085	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.31752	-0.9932	10	0.40728	T	0.16	.	10.5505	0.45085	0.1686:0.0:0.8314:0.0	.	76	Q9NS86	LANC2_HUMAN	Q	76	ENSP00000254770:R76Q	ENSP00000254770:R76Q	R	+	2	0	LANCL2	55427002	0.150000	0.22732	0.046000	0.18839	0.722000	0.41435	1.608000	0.36847	1.359000	0.45940	0.655000	0.94253	CGG		0.388	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		5	198	0	0	0	1	0	5	198					A	55459508	G	A	55459508	3	1	79	1	0	0	0	0	1	0	0	0	8652	1116	39	1	233	1	LANCL2	7	55459508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210407	55459508	103679155	8396	18713											
ZNF713	349075	broad.mit.edu	37	chr7	56007425	56007425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtaaagcttttagccGcatcacatcccttactgaac	7	11	1	1	rs143509812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007425G>A	ENST00000429591.2	+	4	1057	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTTTAGCCGCATCACATCC	0.428																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1018-1020)cGc>cAc		zinc finger protein 713		G	HIS/ARG	0,4406		0,0,2203	87	93	91		1019	2.4	0.9	7	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF713	NM_182633.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	340/431	56007425	1,13005	2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007425G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1019G>A	7.37:g.56007425G>A	ENSP00000416662:p.Arg340His					MRPS17_ENST00000426595.1_Intron	p.R340H	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1057	+	Breast(14;0.214)		340						Missense_Mutation	SNP	ENST00000429591.2	37	c.1019G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415832	0.04766	0.0	1.16E-4	ENSG00000178665	ENST00000429591	T	0.17854	2.25	3.26	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.395973	0.18739	N	0.132504	T	0.07413	0.0187	L	0.28776	0.89	0.09310	N	1	P	0.37158	0.585	B	0.18561	0.022	T	0.27468	-1.0073	10	0.19590	T	0.45	.	4.7219	0.12922	0.1222:0.2273:0.6505:0.0	.	340	Q8N859	ZN713_HUMAN	H	340	ENSP00000416662:R340H	ENSP00000416662:R340H	R	+	2	0	ZNF713	55974919	0.000000	0.05858	0.886000	0.34754	0.383000	0.30230	-0.488000	0.06497	0.930000	0.37217	0.467000	0.42956	CGC		0.428	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		19	564	0	0	0	1	0	19	564					A	56007425	G	A	56007425	3	1	79	1	0	0	0	0	1	0	0	0	18170	1087	38	1	1033	1	ZNF713	7	56007425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	547917	56007425	103131238	8397	18714											
ZNF713	349075	broad.mit.edu	37	chr7	56007462	56007462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatcatagacttcatacCggagagaaaccttacgaatg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007462C>T	ENST00000429591.2	+	4	1094	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACTTCATACCGGAGAGAAAC	0.408																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1054-1056)acC>acT		zinc finger protein 713							74	77	76					7																	56007462		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007462C>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1056C>T	7.37:g.56007462C>T						MRPS17_ENST00000426595.1_Intron	p.T352T	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1094	+	Breast(14;0.214)		352						Silent	SNP	ENST00000429591.2	37	c.1056C>T	CCDS34639.1																																																																																				0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		76	430	0	0	0	1	0	76	430					T	56007462	C	T	56007462	2	4	79	1	0	0	0	0	0	0	0	1	18170	639	23	1		1	ZNF713	7	56007462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	56007462	103131201	8398	18715											
GBAS	2631	broad.mit.edu	37	chr7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcctgtgccaagatccGgacctaatatatatgaactc	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000322090.3	+	6	576	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	183					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398																																						ENST00000322090.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(547-549)Gga>Aga		glioblastoma amplified sequence							84	85	84					7																	56051523		2203	4300	6503	SO:0001583	missense	2631					integral to plasma membrane|membrane fraction|mitochondrion	protein binding	g.chr7:56051523G>A	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.547G>A	7.37:g.56051523G>A	ENSP00000313050:p.Gly183Arg					GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	p.G183R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	576	+	Breast(14;0.214)		183					C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	37	c.547G>A	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743963	0.89663	.	.	ENSG00000146729	ENST00000446692;ENST00000322090;ENST00000446778;ENST00000437587	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.81	4.81	0.61882	Dimeric alpha-beta barrel (1);	0.254452	0.45867	D	0.000337	T	0.68714	0.3031	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.61940	0.896;0.657	T	0.68671	-0.5347	10	0.20046	T	0.44	-16.0315	17.0441	0.86497	0.0:0.0:1.0:0.0	.	144;183	C9IYJ3;O75323	.;NIPS2_HUMAN	R	43;183;144;43	ENSP00000406336:G43R;ENSP00000313050:G183R;ENSP00000406855:G144R;ENSP00000401185:G43R	ENSP00000313050:G183R	G	+	1	0	GBAS	56019017	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	9.365000	0.97139	2.497000	0.84241	0.650000	0.86243	GGA		0.398	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		58	351	0	0	0	1	0	58	351					A	56051523	G	A	56051523	3	1	79	1	0	0	0	0	1	0	0	0	6297	1117	39	1	569	1	GBAS	7	56051523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44061	56051523	103087140	8399	18716											
CCT6A	908	broad.mit.edu	37	chr7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcctcacttgtaacgtgTcattagagtatgagaaaacg	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|SNORA22_ENST00000383876.1_RNA|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTAACGTGTCATTAGAGTA	0.408																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(706-708)Tca>Cca		chaperonin containing TCP1, subunit 6A (zeta 1)							75	66	69					7																	56125777		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56125777T>C	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.706T>C	7.37:g.56125777T>C	ENSP00000275603:p.Ser236Pro					CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P	p.S236P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	925	+	Breast(14;0.214)		236					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.706T>C	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344422	0.61073	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.45285	1.41	0.80722	D	1	D;B;B	0.58620	0.983;0.177;0.244	P;B;B	0.59948	0.866;0.174;0.215	T	0.77970	-0.2387	10	0.23891	T	0.37	-12.187	14.7035	0.69171	0.0:0.0:0.0:1.0	.	205;191;236	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	P	236;191;205;94	ENSP00000275603:S236P;ENSP00000352019:S191P;ENSP00000438488:S205P	ENSP00000275603:S236P	S	+	1	0	CCT6A	56093271	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	7.291000	0.78721	2.151000	0.67156	0.397000	0.26171	TCA		0.408	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		33	154	0	0	0	1	0	33	154					C	56125777	T	C	56125777	3	2	79	1	0	0	0	0	1	0	0	0	2966	1667	58	4	728	4	CCT6A	7	56125777	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74254	56125777	103012886	8400	18717											
PHKG1	5260	broad.mit.edu	37	chr7	56151035	56151035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgagcttgatgttcatGttgtcatccaagagaatgtt	10	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000297373.2	-	6	677	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PHKG1_ENST00000537360.1_Silent_p.N107N|PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(577-579)aaC>aaT		phosphorylase kinase, gamma 1 (muscle)							100	93	95					7																	56151035		2203	4300	6503	SO:0001819	synonymous_variant	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151035G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.483C>T	7.37:g.56151035G>A						PHKG1_ENST00000297373.2_Silent_p.N161N|PHKG1_ENST00000537360.1_Silent_p.N107N	p.N193N	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	728	-	Breast(14;0.214)		161			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.579C>T	CCDS5525.1																																																																																				0.557	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		40	220	0	0	0	1	0	40	220					A	56151035	G	A	56151035	2	1	79	1	0	0	0	0	0	0	0	1	11888	1368	48	2		2	PHKG1	7	56151035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25258	56151035	102987628	8401	18718											
PHKG1	5260	broad.mit.edu	37	chr7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgcgcaggatgtccAcctccttcagcgtggcttct	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000297373.2	-	3	418	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(223-225)gTg>gCg		phosphorylase kinase, gamma 1 (muscle)							77	51	60					7																	56155329		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56155329A>G	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.224T>C	7.37:g.56155329A>G	ENSP00000297373:p.Val75Ala					PHKG1_ENST00000297373.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000489604.1_5'UTR	p.V75A	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	373	-	Breast(14;0.214)		75			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.224T>C	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233249	0.58886	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66280	-0.2;1.02	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095040	0.43747	D	0.000535	T	0.68100	0.2964	L	0.53561	1.675	0.80722	D	1	B;P;P	0.41008	0.064;0.735;0.613	B;B;P	0.51079	0.338;0.287;0.658	T	0.64554	-0.6380	10	0.27082	T	0.32	-36.2881	14.9413	0.70994	1.0:0.0:0.0:0.0	.	75;75;75	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	A	75	ENSP00000445440:V75A;ENSP00000297373:V75A	ENSP00000297373:V75A	V	-	2	0	PHKG1	56122823	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.273000	0.95719	2.189000	0.69895	0.460000	0.39030	GTG		0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		32	139	0	0	0	1	0	32	139					G	56155329	A	G	56155329	3	3	79	1	0	0	0	0	1	0	0	0	11888	159	6	4	971	4	PHKG1	7	56155329	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4294	56155329	102983334	8402	18719											
PHKG1	5260	broad.mit.edu	37	chr7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcttgtggatgcatcGcctgaccacactgctaacgc	12	13	0	1	rs552608919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000297373.2	-	3	300	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15519	0.0		0.0	False		,,,				2504	0.001				Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(106-108)Cga>Tga		phosphorylase kinase, gamma 1 (muscle)							57	47	50					7																	56155447		2203	4300	6503	SO:0001587	stop_gained	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56155447G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.106C>T	7.37:g.56155447G>A	ENSP00000297373:p.Arg36*					PHKG1_ENST00000297373.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR	p.R36*	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	255	-	Breast(14;0.214)		36			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Nonsense_Mutation	SNP	ENST00000297373.2	37	c.106C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852304	0.97885	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	.	.	.	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7593	15.1354	0.72562	0.0:0.0:0.858:0.142	.	.	.	.	X	36	.	ENSP00000297373:R36X	R	-	1	2	PHKG1	56122941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.268000	0.51585	1.404000	0.46819	0.563000	0.77884	CGA		0.657	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		55	216	0	0	0	1	0	55	216					A	56155447	G	A	56155447	4	1	79	1	0	0	0	0	0	1	0	0	11888	1095	38	1	1089	1	PHKG1	7	56155447	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	56155447	102983216	8403	18720											
ZNF716	441234	broad.mit.edu	37	chr7	57528762	57528762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattttgcatgctttcaCgcctaaatcaacatcagata	4	10	4	1	rs377372982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57528762C>T	ENST00000420713.1	+	4	707	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATGCTTTCACGCCTAAATCA	0.338																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(595-597)Cgc>Tgc		zinc finger protein 716		C	CYS/ARG	0,1384		0,0,692	66	57	60		595	0.2	0.1	7		60	1,3181		0,1,1590	no	missense	ZNF716	NM_001159279.1	180	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	possibly-damaging	199/496	57528762	1,4565	692	1591	2283	SO:0001583	missense	441234							g.chr7:57528762C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.595C>T	7.37:g.57528762C>T	ENSP00000394248:p.Arg199Cys						p.R199C	NM_001159279.1	NP_001152751.1					4	707	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.595C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143924	0.06627	0.0	3.14E-4	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.15256	2.44	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.28014	0.82	0.09310	N	1	P	0.52842	0.956	B	0.28784	0.094	T	0.32534	-0.9903	9	0.51188	T	0.08	.	2.6947	0.05130	0.0:0.5591:0.0:0.4409	.	187	A6NP11	ZN716_HUMAN	C	199;187	ENSP00000394248:R199C	ENSP00000387687:R187C	R	+	1	0	ZNF716	57532704	0.000000	0.05858	0.063000	0.19743	0.063000	0.16089	-6.383000	0.00068	0.300000	0.22699	0.306000	0.20318	CGC		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		11	62	0	0	0	1	0	11	62					T	57528762	C	T	57528762	3	4	79	1	0	0	0	0	1	0	0	0	18172	536	19	1	609	1	ZNF716	7	57528762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1373315	57528762	101609901	8404	18721											
ZNF716	441234	broad.mit.edu	37	chr7	57529401	57529401	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaccctacaaatgtgaaGaatgtggcaaagcctttaac	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57529401G>T	ENST00000420713.1	+	4	1346	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAATGTGAAGAATGTGGCAA	0.403																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1234-1236)Gaa>Taa		zinc finger protein 716							27	28	28					7																	57529401		692	1591	2283	SO:0001587	stop_gained	441234							g.chr7:57529401G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1234G>T	7.37:g.57529401G>T	ENSP00000394248:p.Glu412*						p.E412*	NM_001159279.1	NP_001152751.1					4	1346	+									Nonsense_Mutation	SNP	ENST00000420713.1	37	c.1234G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659408	0.67586	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	.	.	.	X	412;400	.	ENSP00000387687:E400X	E	+	1	0	ZNF716	57533343	0.000000	0.05858	0.358000	0.25811	0.360000	0.29518	-0.610000	0.05629	0.300000	0.22699	0.306000	0.20318	GAA		0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		24	193	1	0	1.85244e-09	1	1.95034e-09	24	193					T	57529401	G	T	57529401	4	4	79	1	0	0	0	0	0	1	0	0	18172	943	33	3	1248	3	ZNF716	7	57529401	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	639	57529401	101609262	8405	18722											
ZNF679	168417	broad.mit.edu	37	chr7	63720670	63720670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgcctggatcacgctcaGcagaatttatatagagatgt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63720670G>T	ENST00000421025.1	+	3	380	c.111G>T	c.(109-111)caG>caT	p.Q37H	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATCACGCTCAGCAGAATTTAT	0.383																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(109-111)caG>caT		zinc finger protein 679							50	45	47					7																	63720670		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720670G>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.111G>T	7.37:g.63720670G>T	ENSP00000416809:p.Gln37His					ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			3	380	+			37			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.111G>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731293	0.30684	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.09445	2.98;2.98	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.39937	0.1097	H	0.97611	4.04	0.22317	N	0.999208	D	0.71674	0.998	D	0.83275	0.996	T	0.19257	-1.0311	9	0.87932	D	0	.	2.6947	0.05130	0.4409:0.0:0.5591:0.0	.	37	Q8IYX0	ZN679_HUMAN	H	37	ENSP00000416809:Q37H;ENSP00000255746:Q37H	ENSP00000255746:Q37H	Q	+	3	2	ZNF679	63358105	0.010000	0.17322	0.179000	0.23059	0.176000	0.22953	1.597000	0.36729	0.300000	0.22699	0.306000	0.20318	CAG		0.383	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		84	456	1	0	2.5963e-48	1	3.20365e-48	84	456					T	63720670	G	T	63720670	3	4	79	1	0	0	0	0	1	0	0	0	18139	962	34	3	117	3	ZNF679	7	63720670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6191269	63720670	95417993	8406	18723											
ZNF679	168417	broad.mit.edu	37	chr7	63727090	63727090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaagaatgtgggaaagCctttgccttctcctcaactc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63727090C>A	ENST00000421025.1	+	5	1348	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGGGAAAGCCTTTGCCTTC	0.393																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1078-1080)gCc>gAc		zinc finger protein 679							63	61	62					7																	63727090		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727090C>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1079C>A	7.37:g.63727090C>A	ENSP00000416809:p.Ala360Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1348	+			360						Missense_Mutation	SNP	ENST00000421025.1	37	c.1079C>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453002	0.26161	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.14266	2.52;2.52	0.859	0.859	0.19036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	L	0.55990	1.75	0.25459	N	0.987939	D	0.54601	0.967	P	0.57057	0.812	T	0.10359	-1.0633	9	0.87932	D	0	.	4.6426	0.12556	0.0:0.5897:0.4102:0.0	.	360	Q8IYX0	ZN679_HUMAN	D	360	ENSP00000416809:A360D;ENSP00000255746:A360D	ENSP00000255746:A360D	A	+	2	0	ZNF679	63364525	0.000000	0.05858	0.642000	0.29436	0.643000	0.38383	-0.380000	0.07427	0.202000	0.20498	0.205000	0.17691	GCC		0.393	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		23	129	1	0	6.44725e-10	1	6.81304e-10	23	129					A	63727090	C	A	63727090	3	1	79	1	0	0	0	0	1	0	0	0	18139	739	26	3	1093	3	ZNF679	7	63727090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6420	63727090	95411573	8407	18724											
ZNF107	51427	broad.mit.edu	37	chr7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgaagaacatggaaaagCttttaacctattctcaaaca	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATGGAAAAGCTTTTAACCTA	0.338																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1762-1764)gCt>gAt		zinc finger protein 107							45	52	49					7																	64168445		2201	4296	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168445C>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1763C>A	7.37:g.64168445C>A	ENSP00000378789:p.Ala588Asp					ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D	p.A588D			Q9UII5	ZN107_HUMAN			4	3138	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	588						Missense_Mutation	SNP	ENST00000395391.1	37	c.1763C>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575081	0.45902	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.17213	2.29;2.29;2.29	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.46741	1.465	0.21822	N	0.999529	D	0.69078	0.997	D	0.75020	0.985	T	0.07462	-1.0771	8	.	.	.	.	5.2825	0.15682	0.0:0.6307:0.3693:0.0	.	588	Q9UII5	ZN107_HUMAN	D	588	ENSP00000343443:A588D;ENSP00000400037:A588D;ENSP00000378789:A588D	.	A	+	2	0	ZNF107	63805880	0.000000	0.05858	0.216000	0.23742	0.459000	0.32528	0.444000	0.21661	0.635000	0.30488	0.313000	0.20887	GCT		0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		56	286	1	0	1.0442e-30	1	1.22599e-30	56	286					A	64168445	C	A	64168445	3	1	79	1	0	0	0	0	1	0	0	0	17768	797	28	3	1769	3	ZNF107	7	64168445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441355	64168445	94970218	8408	18725											
ZNF273	10793	broad.mit.edu	37	chr7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttactaaacataagataaTtcatactggagcaaaacctt	4	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAGATAATTCATACTGGA	0.348																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1351-1353)aTt>aGt		zinc finger protein 273							32	35	34					7																	64389058		2201	4298	6499	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64389058T>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1352T>G	7.37:g.64389058T>G	ENSP00000418719:p.Ile451Ser					ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	p.I451S	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1423	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	451					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.1352T>G	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883389	0.51908	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.00659	5.94;5.94	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	N	0.11106	0.095	0.28238	N	0.925795	P	0.35226	0.491	P	0.50934	0.654	T	0.51896	-0.8647	9	0.72032	D	0.01	.	5.7517	0.18150	0.0:0.0:0.0:1.0	.	451	Q14593	ZN273_HUMAN	S	451;386	ENSP00000418719:I451S;ENSP00000324518:I386S	ENSP00000324518:I386S	I	+	2	0	ZNF273	64026493	0.000000	0.05858	0.826000	0.32828	0.824000	0.46624	-0.280000	0.08468	0.175000	0.19841	0.172000	0.16884	ATT		0.348	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			46	178	0	0	0	1	0	46	178					G	64389058	T	G	64389058	3	3	79	1	0	0	0	0	1	0	0	0	17861	1493	52	4	1366	4	ZNF273	7	64389058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220613	64389058	94749605	8409	18726											
ZNF273	10793	broad.mit.edu	37	chr7	64389265	64389265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagcttttaaccggtcct	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	ENST00000476120.1	+	4	1630	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GAAGAATGTGGCAAAGCTTTT	0.378																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1558-1560)gGc>gAc		zinc finger protein 273							58	63	61					7																	64389265		2203	4300	6503	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64389265G>A	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1559G>A	7.37:g.64389265G>A	ENSP00000418719:p.Gly520Asp					ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	p.G520D	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1630	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	520					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.1559G>A	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733462	0.69189	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07444	3.19;3.19	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	M	0.64080	1.96	0.42039	D	0.99106	B	0.24483	0.104	B	0.35727	0.209	T	0.05750	-1.0866	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	520	Q14593	ZN273_HUMAN	D	520;455	ENSP00000418719:G520D;ENSP00000324518:G455D	ENSP00000324518:G455D	G	+	2	0	ZNF273	64026700	0.994000	0.37717	0.818000	0.32626	0.818000	0.46254	1.598000	0.36740	0.202000	0.20498	0.205000	0.17691	GGC		0.378	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			34	371	0	0	0	1	0	34	371					A	64389265	G	A	64389265	3	1	79	1	0	0	0	0	1	0	0	0	17861	1203	42	2	1573	2	ZNF273	7	64389265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	64389265	94749398	8410	18727											
ZNF117	51351	broad.mit.edu	37	chr7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCagtatgaattaccttatgtc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	357					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTTTCTCTCCAGTATGAATT	0.388																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1069-1071)Gga>Aga		zinc finger protein 117							72	75	74					7																	64438880		2152	4275	6427	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438880C>T	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1069G>A	7.37:g.64438880C>T	ENSP00000282869:p.Gly357Arg						p.G357R	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2353	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	357					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1069G>A	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884060	0.51908	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.26223	1.75	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	M	0.66939	2.045	0.41668	D	0.98922	P	0.37398	0.593	B	0.38683	0.279	T	0.10222	-1.0639	9	0.62326	D	0.03	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	357	Q03924	ZN117_HUMAN	R	357	ENSP00000282869:G357R	ENSP00000282869:G357R	G	-	1	0	ZNF117	64076315	0.029000	0.19370	0.150000	0.22450	0.056000	0.15407	2.078000	0.41567	0.518000	0.28383	0.313000	0.20887	GGA		0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		73	383	0	0	0	1	0	73	383					T	64438880	C	T	64438880	3	4	79	1	0	0	0	0	1	0	0	0	17770	603	21	2	386	2	ZNF117	7	64438880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49615	64438880	94699783	8411	18728											
ERV3	2086	broad.mit.edu	37	chr7	64452444	64452444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggttcgagggaagaggCggttagtgtgaaattatctt	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64452444C>T	ENST00000394323.2	-	2	1461	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	321						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agggaagaggcggttagtgtg	0.473																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(961-963)Gcc>Acc									112	107	108					7																	64452444		1909	4125	6034	SO:0001583	missense	0					virion		g.chr7:64452444C>T	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.961G>A	7.37:g.64452444C>T	ENSP00000391594:p.Ala321Thr						p.A321T	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1461	-			321						Missense_Mutation	SNP	ENST00000394323.2	37	c.961G>A	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	6.029	0.373706	0.11409	.	.	ENSG00000213462	ENST00000394323	T	0.21191	2.02	0.109	0.109	0.14578	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.26416	0.069	T	0.26395	-1.0104	8	0.44086	T	0.13	.	.	.	.	.	321	Q14264	ENR1_HUMAN	T	321	ENSP00000391594:A321T	ENSP00000391594:A321T	A	-	1	0	ERV3-1	64089879	0.025000	0.19082	0.014000	0.15608	0.015000	0.08874	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GCC		0.473	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		42	221	0	0	0	1	0	42	221					T	64452444	C	T	64452444	3	4	79	1	0	0	0	0	1	0	0	0	5263	768	27	1	857	1	ERV3	7	64452444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13564	64452444	94686219	8412	18729											
GUSB	2990	broad.mit.edu	37	chr7	65444521	65444521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctggacaaagtaaccctTgggatacctaggatgggagg	14	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65444521T>C	ENST00000304895.4	-	4	719	c.589A>G	c.(589-591)Aag>Gag	p.K197E	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	197					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGTAACCCTTGGGATACCTA	0.547																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(589-591)Aag>Gag		glucuronidase, beta							94	93	93					7																	65444521		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65444521T>C	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.589A>G	7.37:g.65444521T>C	ENSP00000302728:p.Lys197Glu					GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000476486.1_5'UTR	p.K197E	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			4	719	-			197					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.589A>G	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846587	0.51164	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94758	-3.51;-3.51	5.27	5.27	0.74061	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.343573	0.36034	N	0.002824	D	0.89213	0.6651	N	0.25332	0.735	0.33520	D	0.592243	B	0.14438	0.01	B	0.12156	0.007	D	0.86877	0.2039	10	0.14656	T	0.56	.	14.4435	0.67333	0.0:0.0:0.0:1.0	.	197	P08236	BGLR_HUMAN	E	197	ENSP00000302728:K197E;ENSP00000340734:K197E	ENSP00000302728:K197E	K	-	1	0	GUSB	65081956	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.694000	0.47035	1.995000	0.58328	0.454000	0.30748	AAG		0.547	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		11	406	0	0	0	1	0	11	406					C	65444521	T	C	65444521	3	2	79	1	0	0	0	0	1	0	0	0	6932	1821	63	4	1402	4	GUSB	7	65444521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	992077	65444521	93694142	8413	18730											
ASL	435	broad.mit.edu	37	chr7	65557861	65557861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtcgactggcagatcCgccaggtgcgggcgctactg	15	14	0	1	rs144591360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65557861C>T	ENST00000304874.9	+	17	1459	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ASL_ENST00000380839.4_Missense_Mutation_p.R427C|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.R453C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	453					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTGGCAGATCCGCCAGGTGCG	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.001					ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1357-1359)Cgc>Tgc		argininosuccinate lyase	L-Arginine(DB00125)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	35	35	35		1357,1357,1297,1279	-8.9	0	7	dbSNP_134	35	0,8598		0,0,4299	yes	missense,missense,missense,missense	ASL	NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1	180,180,180,180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	453/465,453/465,433/445,427/439	65557861	1,13003	2203	4299	6502	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557861C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1357C>T	7.37:g.65557861C>T	ENSP00000307188:p.Arg453Cys					ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000380839.4_Missense_Mutation_p.R427C	p.R453C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			17	1459	+			453					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1357C>T	CCDS5531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	11.57	1.677791	0.29783	2.27E-4	0.0	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51	5.53	-8.89	0.00785	L-Aspartase-like (1);	0.713318	0.14248	N	0.331614	D	0.96670	0.8913	M	0.78049	2.395	0.25305	N	0.989249	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	D	0.87673	0.2542	10	0.72032	D	0.01	.	4.0702	0.09879	0.3506:0.2577:0.3189:0.0728	.	427;433;453	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	C	453;427;453;433	ENSP00000307188:R453C;ENSP00000370219:R427C;ENSP00000378741:R453C;ENSP00000378740:R433C	ENSP00000307188:R453C	R	+	1	0	ASL	65195296	0.002000	0.14202	0.009000	0.14445	0.611000	0.37282	-0.279000	0.08479	-1.686000	0.01439	-1.332000	0.01269	CGC		0.657	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		9	312	0	0	0	1	0	9	312					T	65557861	C	T	65557861	3	4	79	1	0	0	0	0	1	0	0	0	1045	652	23	1	1419	1	ASL	7	65557861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113340	65557861	93580802	8414	18731											
TPST1	8460	broad.mit.edu	37	chr7	65706099	65706099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataaccagtgtatggaggtTggttataaaaagtgcatgtt	11	3	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65706099T>C	ENST00000304842.5	+	2	1112	c.687T>C	c.(685-687)gtT>gtC	p.V229V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	229					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGGAGGTTGGTTATAAAA	0.403																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(685-687)gtT>gtC		tyrosylprotein sulfotransferase 1							120	101	107					7																	65706099		2203	4300	6503	SO:0001819	synonymous_variant	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65706099T>C	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.687T>C	7.37:g.65706099T>C						TPST1_ENST00000480281.1_Intron	p.V229V	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	1112	+			229					A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	37	c.687T>C	CCDS5533.1																																																																																				0.403	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		10	283	0	0	0	1	0	10	283					C	65706099	T	C	65706099	2	2	79	1	0	0	0	0	0	0	0	1	16480	1799	63	4		4	TPST1	7	65706099	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148238	65706099	93432564	8415	18732											
RABGEF1	27342	broad.mit.edu	37	chr7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcttctgcaatccaagcCgactgatgactggagaggat	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000284957.5	+	8	1113	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	563					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCAAGCCGACTGATGAC	0.498																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(1156-1158)Cga>Tga		potassium channel tetramerization domain containing 7							101	88	93					7																	66270342		2203	4300	6503	SO:0001587	stop_gained	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66270342C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1036C>T	7.37:g.66270342C>T	ENSP00000284957:p.Arg346*					RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000284957.5_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000484547.2_3'UTR	p.R386*			Q96MP8	KCTD7_HUMAN			10	1310	+			0					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Nonsense_Mutation	SNP	ENST00000284957.5	37	c.1156C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971006	0.97971	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4757	12.27	0.54700	0.2678:0.7322:0.0:0.0	.	.	.	.	X	430;386;346;346;262;346;346;359;360	.	ENSP00000370207:R430X	R	+	1	2	RABGEF1;KCTD7	65907777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.726000	0.38085	2.643000	0.89663	0.655000	0.94253	CGA		0.498	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		41	387	0	0	0	1	0	41	387					T	66270342	C	T	66270342	4	4	79	1	0	0	0	0	0	1	0	0	13016	644	23	1	1062	1	RABGEF1	7	66270342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	564243	66270342	92868321	8416	18733											
RABGEF1	27342	broad.mit.edu	37	chr7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcctccaccactgcaaCctcaagtttatgcaggatga	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000284957.5	+	9	1533	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	703	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						ACCACTGCAACCTCAAGTTTA	0.398																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(1576-1578)Cct>Tct		potassium channel tetramerization domain containing 7							50	50	50					7																	66274251		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66274251C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1456C>T	7.37:g.66274251C>T	ENSP00000284957:p.Pro486Ser					RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000484547.2_3'UTR	p.P526S			Q96MP8	KCTD7_HUMAN			11	1730	+			0					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.1576C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955184	0.92726	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.69561	-0.41;-0.09;-0.09;-0.09;-0.09;-0.2;-0.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	T	0.81464	-0.0921	10	0.72032	D	0.01	-21.9137	19.2161	0.93778	0.0:1.0:0.0:0.0	.	500;320;703	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	S	570;526;486;486;402;486;486;499;500	ENSP00000370208:P526S;ENSP00000421124:P486S;ENSP00000398177:P486S;ENSP00000284957:P486S;ENSP00000415815:P486S;ENSP00000403429:P499S;ENSP00000390480:P500S	ENSP00000370207:P570S	P	+	1	0	RABGEF1;KCTD7	65911686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.778000	0.95560	0.655000	0.94253	CCT		0.398	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		55	296	0	0	0	1	0	55	296					T	66274251	C	T	66274251	3	4	79	1	0	0	0	0	1	0	0	0	13016	507	18	2	1486	2	RABGEF1	7	66274251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	66274251	92864412	8417	18734											
TYW1	55253	broad.mit.edu	37	chr7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatttgggcaaaattatgGatcatgtgaagaaagaaaag	11	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	322					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(964-966)Gat>Aat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							141	136	138					7																	66489989		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66489989G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.964G>A	7.37:g.66489989G>A	ENSP00000352645:p.Asp322Asn						p.D322N	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			7	1128	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	322					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.964G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033688	0.02029	.	.	ENSG00000198874	ENST00000359626	T	0.16457	2.34	4.66	0.307	0.15811	.	0.696409	0.12879	N	0.431594	T	0.05640	0.0148	N	0.02916	-0.46	0.22541	N	0.99901	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.09590	T	0.72	.	7.7957	0.29146	0.5755:0.0:0.4245:0.0	.	322	Q9NV66	TYW1_HUMAN	N	322	ENSP00000352645:D322N	ENSP00000352645:D322N	D	+	1	0	TYW1	66127424	0.798000	0.28890	0.135000	0.22099	0.494000	0.33585	1.228000	0.32588	-0.153000	0.11137	0.313000	0.20887	GAT		0.408	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		88	370	0	0	0	1	0	88	370					A	66489989	G	A	66489989	3	1	79	1	0	0	0	0	1	0	0	0	16872	1174	41	2	990	2	TYW1	7	66489989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215738	66489989	92648674	8418	18735											
TYW1	55253	broad.mit.edu	37	chr7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtttgttcaggaacatgGggaggaatgaagatggtgaa	16	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	345					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1033-1035)Ggg>Agg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							57	57	57					7																	66514984		2203	4296	6499	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66514984G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1033G>A	7.37:g.66514984G>A	ENSP00000352645:p.Gly345Arg						p.G345R	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			8	1197	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	345					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1033G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190598	0.06299	.	.	ENSG00000198874	ENST00000359626	T	0.17691	2.26	3.92	2.99	0.34606	.	0.653207	0.13336	U	0.395557	T	0.14960	0.0361	L	0.39898	1.24	0.30899	N	0.729503	B	0.25563	0.129	B	0.30029	0.11	T	0.18304	-1.0341	10	0.16420	T	0.52	.	11.1751	0.48595	0.0:0.1887:0.8113:0.0	.	345	Q9NV66	TYW1_HUMAN	R	345	ENSP00000352645:G345R	ENSP00000352645:G345R	G	+	1	0	TYW1	66152419	0.127000	0.22367	0.224000	0.23877	0.076000	0.17211	1.244000	0.32778	0.931000	0.37242	0.563000	0.77884	GGG		0.373	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		41	227	0	0	0	1	0	41	227					A	66514984	G	A	66514984	3	1	79	1	0	0	0	0	1	0	0	0	16872	1232	43	2	1063	2	TYW1	7	66514984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24995	66514984	92623679	8419	18736											
TYW1	55253	broad.mit.edu	37	chr7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcccacgtgccctggCatgaggaagtggtacagttt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	624					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1870-1872)Cat>Tat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							163	153	156					7																	66660217		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66660217C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1870C>T	7.37:g.66660217C>T	ENSP00000352645:p.His624Tyr						p.H624Y	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			15	2034	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	624					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1870C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943301	0.53079	.	.	ENSG00000198874	ENST00000359626	T	0.51574	0.7	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000001	T	0.46870	0.1415	L	0.56340	1.77	0.80722	D	1	B	0.25235	0.121	B	0.34779	0.189	T	0.45891	-0.9230	10	0.33940	T	0.23	.	13.2966	0.60301	0.0:1.0:0.0:0.0	.	624	Q9NV66	TYW1_HUMAN	Y	624	ENSP00000352645:H624Y	ENSP00000352645:H624Y	H	+	1	0	TYW1	66297652	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.626000	0.74253	1.755000	0.51935	0.514000	0.50259	CAT		0.488	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		105	421	0	0	0	1	0	105	421					T	66660217	C	T	66660217	3	4	79	1	0	0	0	0	1	0	0	0	16872	710	25	2	1928	2	TYW1	7	66660217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145233	66660217	92478446	8420	18737											
AUTS2	26053	broad.mit.edu	37	chr7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagagcaagacatcttgcGacaggaactgaacactcgtt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1483-1485)cGa>cAa		autism susceptibility candidate 2							134	129	131					7																	70231115		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70231115G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1484G>A	7.37:g.70231115G>A	ENSP00000344087:p.Arg495Gln					AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1805	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	495					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1484G>A	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468726|5.468726	0.96274|0.96274	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.54071	.|0.59;0.59	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.114328	.|0.64402	.|D	.|0.000016	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.68307|0.68307	-0.5443|-0.5443	5|9	.|.	.|.	.|.	-9.7214|-9.7214	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;495	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	N|Q	37|495	.|ENSP00000385263:R495Q;ENSP00000344087:R495Q	.|.	D|R	+|+	1|2	0|0	AUTS2|AUTS2	69869051|69869051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.159000|9.159000	0.94728|0.94728	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.582	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			74	328	0	0	0	1	0	74	328					A	70231115	G	A	70231115	3	1	79	1	0	0	0	0	1	0	0	0	1226	1058	37	1	1663	1	AUTS2	7	70231115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3570898	70231115	88907548	8421	18738											
AUTS2	26053	broad.mit.edu	37	chr7	70231305	70231305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgccatcatgccgacGccagcacctcccatggtgcg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1672-1674)acG>acA		autism susceptibility candidate 2							196	183	188					7																	70231305		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70231305G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1674G>A	7.37:g.70231305G>A						AUTS2_ENST00000406775.2_Silent_p.T558T	p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1995	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	558					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.1674G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054992	0.19907	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.32	4.38	0.52667	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	-7.7806	12.7117	0.57094	0.0:0.0:0.7115:0.2884	.	.	.	.	H	100	.	.	R	+	2	0	AUTS2	69869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	2.498000	0.84270	0.561000	0.74099	CGC		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			34	313	0	0	0	1	0	34	313					A	70231305	G	A	70231305	2	1	79	1	0	0	0	0	0	0	0	1	1226	1074	38	1		1	AUTS2	7	70231305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	70231305	88907358	8422	18739											
AUTS2	26053	broad.mit.edu	37	chr7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagacatccaaccctatcGatgtcgctgctcggcctggg	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	616										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1846-1848)Gat>Aat		autism susceptibility candidate 2							127	100	109					7																	70239029		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70239029G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1846G>A	7.37:g.70239029G>A	ENSP00000344087:p.Asp616Asn					AUTS2_ENST00000406775.2_Intron	p.D616N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	12	2167	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	616					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1846G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463611	0.84425	.	.	ENSG00000158321	ENST00000342771	T	0.35973	1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.52011	1.625	0.80722	D	1	D;D	0.63880	0.966;0.993	P;P	0.52109	0.45;0.69	T	0.15694	-1.0428	9	.	.	.	-21.3555	19.609	0.95594	0.0:0.0:1.0:0.0	.	68;616	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	N	616	ENSP00000344087:D616N	.	D	+	1	0	AUTS2	69876965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.408000	0.97327	2.882000	0.98803	0.655000	0.94253	GAT		0.488	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			45	199	0	0	0	1	0	45	199					A	70239029	G	A	70239029	3	1	79	1	0	0	0	0	1	0	0	0	1226	1058	37	1	2037	1	AUTS2	7	70239029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7724	70239029	88899634	8423	18740											
AUTS2	26053	broad.mit.edu	37	chr7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgaaggatatcgaggcccGataagccgagaacaggagca	14	9	0	2	rs148604002	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		13907	0.001		0.001	False		,,,				2504	0.0					ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3775-3777)cGa>cAa		autism susceptibility candidate 2		G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	20	22	21		3704,3776	5.1	0.2	7	dbSNP_134	21	2,8592		0,2,4295	yes	missense,missense	AUTS2	NM_001127231.1,NM_015570.2	43,43	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1235/1236,1259/1260	70255978	2,12996	2202	4297	6499	SO:0001583	missense	26053							g.chr7:70255978G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3776G>A	7.37:g.70255978G>A	ENSP00000344087:p.Arg1259Gln					AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	p.R1259Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4097	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1259					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3776G>A	CCDS5539.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.09	3.759010	0.69763	0.0	2.33E-4	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.65364	-0.11;-0.15	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.99	T	0.74671	-0.3587	9	.	.	.	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;1235;1259	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	1235;1259	ENSP00000385263:R1235Q;ENSP00000344087:R1259Q	.	R	+	2	0	AUTS2	69893914	1.000000	0.71417	0.192000	0.23308	0.238000	0.25445	7.416000	0.80143	2.391000	0.81399	0.655000	0.94253	CGA		0.602	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			13	86	0	0	0	1	0	13	86					A	70255978	G	A	70255978	3	1	79	1	0	0	0	0	1	0	0	0	1226	1058	37	1	3995	1	AUTS2	7	70255978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16949	70255978	88882685	8424	18741											
TYW1B	441250	broad.mit.edu	37	chr7	72277809	72277809	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagtgcctgcagctgggaGatgaacttggtcttccatgc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72277809G>A	ENST00000435769.2	-	0	695				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCAGCTGGGAGATGAACTTGG	0.537																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							113	98	103					7																	72277809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72277809G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277809G>A										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.537	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		15	148	0	0	0	1	0	15	148					A	72277809	G	A	72277809	1	1	79	0	1	0	0	0	0	0	0	0	16873	932	33	2		2	TYW1B	7	72277809	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2021831	72277809	86860854	8425	18742											
POM121	9883	broad.mit.edu	37	chr7	72413259	72413259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacactgccgtgccaacGgccaccagcagcagcgctgc	11	18	0	0	rs187881207	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000434423.2	+	11	2727	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000395270.1_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGTGCCAACGGCCACCAGCA	0.627													.|||	2	0.000399361	0.0	0.0	5008	,	,		18987	0.0		0.002	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1930-1932)acG>acA		POM121 transmembrane nucleoporin							66	81	76					7																	72413259		2107	4261	6368	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413259G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2727G>A	7.37:g.72413259G>A						POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000434423.2_Silent_p.T909T	p.T644T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2973	+		Lung NSC(55;0.163)	909			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.1932G>A																																																																																					0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			141	282	0	0	0	1	0	141	282					A	72413259	G	A	72413259	2	1	79	1	0	0	0	0	0	0	0	1	12281	1103	39	1		1	POM121	7	72413259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135450	72413259	86725404	8426	18743											
POM121	9883	broad.mit.edu	37	chr7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgcatttggggccGctgaggggcagccaccgggg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000434423.2	+	11	2923	c.2923G>A	c.(2923-2925)Gct>Act	p.A975T	POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000395270.1_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	975	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTTGGGGCCGCTGAGGGGCA	0.652																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2128-2130)Gct>Act		POM121 transmembrane nucleoporin							16	24	21					7																	72413455		2153	4247	6400	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413455G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2923G>A	7.37:g.72413455G>A	ENSP00000405562:p.Ala975Thr					POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000434423.2_Missense_Mutation_p.A975T	p.A710T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3169	+		Lung NSC(55;0.163)	975			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2128G>A		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292911	0.00245	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.65	2.33	-1.67	0.08238	.	0.482456	0.15496	N	0.259272	T	0.01976	0.0062	N	0.03050	-0.425	0.09310	N	1	B;B	0.23650	0.089;0.041	B;B	0.16722	0.016;0.008	T	0.48068	-0.9067	10	0.10111	T	0.7	.	6.8782	0.24158	0.3294:0.0:0.6706:0.0	.	710;975	A8MXF9;Q96HA1	.;P121A_HUMAN	T	710;710;710;710;975	ENSP00000393020:A710T;ENSP00000257622:A710T;ENSP00000378687:A710T;ENSP00000351124:A710T;ENSP00000405562:A975T	ENSP00000257622:A710T	A	+	1	0	POM121	72051391	0.000000	0.05858	0.129000	0.21949	0.087000	0.18053	-0.483000	0.06536	-0.190000	0.10465	0.173000	0.16961	GCT		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			96	441	0	0	0	1	0	96	441					A	72413455	G	A	72413455	3	1	79	1	0	0	0	0	1	0	0	0	12281	1087	38	1	2166	1	POM121	7	72413455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	72413455	86725208	8427	18744											
POM121	9883	broad.mit.edu	37	chr7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagccacggcttcggccTtcggcgctcccgccagctca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000434423.2	+	11	3139	c.3139T>G	c.(3139-3141)Ttc>Gtc	p.F1047V	POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000395270.1_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTTCGGCCTTCGGCGCTCC	0.647																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2344-2346)Ttc>Gtc		POM121 transmembrane nucleoporin							40	41	40					7																	72413671		2203	4296	6499	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413671T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3139T>G	7.37:g.72413671T>G	ENSP00000405562:p.Phe1047Val					POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000434423.2_Missense_Mutation_p.F1047V	p.F782V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3385	+		Lung NSC(55;0.163)	1047			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2344T>G		.	.	.	.	.	.	.	.	.	.	T	10.83	1.461648	0.26248	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09163	3.01;3.13;3.01;3.13;3.37	2.87	2.87	0.33458	.	0.000000	0.40728	N	0.001028	T	0.24122	0.0584	M	0.77820	2.39	0.09310	N	1	D;D	0.61697	0.986;0.99	P;D	0.63192	0.797;0.912	T	0.08411	-1.0723	10	0.15952	T	0.53	.	8.67	0.34145	0.0:0.0:0.0:1.0	.	782;1047	A8MXF9;Q96HA1	.;P121A_HUMAN	V	782;782;782;782;1047	ENSP00000393020:F782V;ENSP00000257622:F782V;ENSP00000378687:F782V;ENSP00000351124:F782V;ENSP00000405562:F1047V	ENSP00000257622:F782V	F	+	1	0	POM121	72051607	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	5.284000	0.65627	1.316000	0.45131	0.145000	0.16022	TTC		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			63	392	0	0	0	1	0	63	392					G	72413671	T	G	72413671	3	3	79	1	0	0	0	0	1	0	0	0	12281	1609	56	4	2382	4	POM121	7	72413671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216	72413671	86724992	8428	18745											
NSUN5	55695	broad.mit.edu	37	chr7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactcagccttgagcctcGcctggtgccggcccaacaga	10	17	1	2	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0					ENST00000252594.6																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(298-300)gCg>gTg		NOP2/Sun domain family, member 5		G	VAL/ALA,,VAL/ALA,VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	44	39	41		299,,299,299	4.2	1	7	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	64,,64,64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	possibly-damaging,,possibly-damaging,possibly-damaging	100/471,,100/430,100/467	72721672	8,12998	2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721672G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.299C>T	7.37:g.72721672G>A	ENSP00000252594:p.Ala100Val					NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V	p.A100V			Q96P11	NSUN5_HUMAN			3	314	-		Lung NSC(55;0.163)	100	A -> P (in Ref. 1; AAL16067).				B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.299C>T	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400031	0.83120	0.001589	1.16E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.15256	2.44;2.63;2.63	4.18	4.18	0.49190	.	0.055915	0.64402	D	0.000001	T	0.27629	0.0679	M	0.66939	2.045	0.49798	D	0.999825	P;P;P	0.52463	0.953;0.945;0.949	B;B;P	0.48400	0.372;0.269;0.576	T	0.05683	-1.0870	9	.	.	.	.	15.7336	0.77825	0.0:0.0:1.0:0.0	.	100;100;100	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	V	100	ENSP00000252594:A100V;ENSP00000388464:A100V;ENSP00000309126:A100V	.	A	-	2	0	NSUN5	72359608	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	8.882000	0.92420	2.165000	0.68154	0.485000	0.47835	GCG		0.597	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		35	111	0	0	0	1	0	35	111					A	72721672	G	A	72721672	3	1	79	1	0	0	0	0	1	0	0	0	10723	1087	38	1	1154	1	NSUN5	7	72721672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308001	72721672	86416991	8429	18746											
TRIM50	135892	broad.mit.edu	37	chr7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttgttcaccagtttggCgatgagctcatccacctttt	9	12	2	1	rs539646371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	155						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.002					ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(463-465)Gcc>Acc		tripartite motif containing 50							398	335	356					7																	72734178		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734178C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.463G>A	7.37:g.72734178C>T	ENSP00000327994:p.Ala155Thr					TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T	p.A155T	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			3	663	-			155					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.463G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581845	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64260	-0.09;-0.09	4.14	2.14	0.27477	.	0.437004	0.20192	N	0.097285	T	0.36248	0.0960	N	0.14661	0.345	0.20926	N	0.99982	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.002	T	0.05852	-1.0860	10	0.35671	T	0.21	.	2.8872	0.05664	0.0:0.4802:0.2583:0.2615	.	155;155	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	T	155	ENSP00000327994:A155T;ENSP00000413875:A155T	ENSP00000327994:A155T	A	-	1	0	TRIM50	72372114	0.814000	0.29104	0.973000	0.42090	0.966000	0.64601	1.180000	0.32005	2.042000	0.60477	0.485000	0.47835	GCC		0.587	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		152	899	0	0	0	1	0	152	899					T	72734178	C	T	72734178	3	4	79	1	0	0	0	0	1	0	0	0	16579	768	27	1	1020	1	TRIM50	7	72734178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12506	72734178	86404485	8430	18747											
TRIM50	135892	broad.mit.edu	37	chr7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagctgctgccgtccAccgcctgccggcacacgggg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	60						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(178-180)gTg>gCg		tripartite motif containing 50							47	47	47					7																	72738607		2202	4299	6501	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72738607A>G	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.179T>C	7.37:g.72738607A>G	ENSP00000327994:p.Val60Ala		OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	p.V60A	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			2	379	-			60					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.179T>C	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236062	0.22626	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84442	-1.85;-1.85	3.7	2.48	0.30137	Zinc finger, RING/FYVE/PHD-type (1);	0.108239	0.39146	N	0.001441	T	0.78509	0.4294	L	0.53671	1.685	0.22001	N	0.999425	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.62388	-0.6865	10	0.23891	T	0.37	.	8.3006	0.32012	0.9005:0.0:0.0995:0.0	.	60;60	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	60	ENSP00000327994:V60A;ENSP00000413875:V60A	ENSP00000327994:V60A	V	-	2	0	TRIM50	72376543	0.016000	0.18221	0.823000	0.32752	0.789000	0.44602	2.697000	0.47060	0.585000	0.29608	0.397000	0.26171	GTG		0.687	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		78	331	0	0	0	1	0	78	331					G	72738607	A	G	72738607	3	3	79	1	0	0	0	0	1	0	0	0	16579	159	6	4	1308	4	TRIM50	7	72738607	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4429	72738607	86400056	8431	18748											
FKBP6	8468	broad.mit.edu	37	chr7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgctatggagagcaggCtttgatcattgaccaaaaga	11	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D|FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	245					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(733-735)gCt>gAt		FK506 binding protein 6, 36kDa							76	77	77					7																	72754785		1946	4147	6093	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754785C>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.734C>A	7.37:g.72754785C>A	ENSP00000252037:p.Ala245Asp					FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D	p.A245D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			6	803	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	245					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.734C>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204249	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.996	D	0.92672	0.6151	10	0.87932	D	0	-9.8292	15.2625	0.73634	0.0:1.0:0.0:0.0	.	240;245;215	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	D	240;200;215;245	ENSP00000416277:A240D;ENSP00000402360:A200D;ENSP00000394952:A215D;ENSP00000252037:A245D	ENSP00000252037:A245D	A	+	2	0	FKBP6	72392721	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.971000	0.70440	2.284000	0.76573	0.563000	0.77884	GCT		0.522	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		28	274	1	0	1.75199e-13	1	1.89187e-13	28	274					A	72754785	C	A	72754785	3	1	79	1	0	0	0	0	1	0	0	0	5937	797	28	3	802	3	FKBP6	7	72754785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16178	72754785	86383878	8432	18749											
FZD9	8326	broad.mit.edu	37	chr7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgggtggtcctgacgCtcacctggttcctggctgcc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	336					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1006-1008)Ctc>Ttc		frizzled family receptor 9							77	71	73					7																	72849343		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849343C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1006C>T	7.37:g.72849343C>T	ENSP00000345785:p.Leu336Phe						p.L336F	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1235	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	336						Missense_Mutation	SNP	ENST00000344575.3	37	c.1006C>T	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808435	0.70797	.	.	ENSG00000188763	ENST00000344575	T	0.48201	0.82	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.59183	0.2175	L	0.48877	1.53	0.80722	D	1	D	0.54207	0.965	D	0.63381	0.914	T	0.57808	-0.7747	10	0.36615	T	0.2	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	336	O00144	FZD9_HUMAN	F	336	ENSP00000345785:L336F	ENSP00000345785:L336F	L	+	1	0	FZD9	72487279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.821000	0.55700	2.105000	0.64084	0.563000	0.77884	CTC		0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			84	382	0	0	0	1	0	84	382					T	72849343	C	T	72849343	3	4	79	1	0	0	0	0	1	0	0	0	6164	797	28	2	1008	2	FZD9	7	72849343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94558	72849343	86289320	8433	18750											
FZD9	8326	broad.mit.edu	37	chr7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgagctgactgggctttgCtacgtggccagcacggatgc	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	388					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1162-1164)tgC>tgA		frizzled family receptor 9							47	44	45					7																	72849501		2203	4300	6503	SO:0001587	stop_gained	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849501C>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1164C>A	7.37:g.72849501C>A	ENSP00000345785:p.Cys388*						p.C388*	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1393	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	388						Nonsense_Mutation	SNP	ENST00000344575.3	37	c.1164C>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774497	0.96922	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.46	2.59	0.31030	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2442	0.37515	0.0:0.8161:0.0:0.1839	.	.	.	.	X	388	.	ENSP00000345785:C388X	C	+	3	2	FZD9	72487437	1.000000	0.71417	0.973000	0.42090	0.711000	0.40976	1.755000	0.38379	0.403000	0.25479	0.563000	0.77884	TGC		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			30	301	1	0	4.02929e-09	1	4.23443e-09	30	301					A	72849501	C	A	72849501	4	1	79	1	0	0	0	0	0	1	0	0	6164	805	28	3	1166	3	FZD9	7	72849501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	72849501	86289162	8434	18751											
BAZ1B	9031	broad.mit.edu	37	chr7	72907202	72907202	+	Frame_Shift_Del	DEL	T	T	-													ggagcccatttcctttctccTttttttaatgaagtaggaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72907202delT	ENST00000339594.4	-	5	959	c.621delA	c.(619-621)aaafs	p.K207fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	207	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTTTCTCCTTTTTTTAATG	0.323																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(619-621)aafs		bromodomain adjacent to zinc finger domain, 1B							129	125	126					7																	72907202		2203	4299	6502	SO:0001589	frameshift_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72907202delT	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.621delA	7.37:g.72907202delT	ENSP00000342434:p.Lys207fs					BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			5	959	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	207			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	ENST00000339594.4	37	c.621delA	CCDS5549.1																																																																																				0.323	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		9	213						9	213	---	---	---	---	-	72907202	T	-	72907202	7	5	79	1	0	1	0	1	0	0	0	0	1331	1606	56	0	3890	0	BAZ1B	7	72907202	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	57701	72907202	86231461	8435	18752											
TBL2	26608	broad.mit.edu	37	chr7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgttagcaatgccaatgtCgatgacaggcgccttgtgct	12	9	0	1	rs199565638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	193							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21452	0.0		0.0	False		,,,				2504	0.0					ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(577-579)Gac>Aac		transducin (beta)-like 2							166	145	152					7																	72987671		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72987671C>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.577G>A	7.37:g.72987671C>T	ENSP00000307260:p.Asp193Asn					TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	p.D193N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			4	818	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	193					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.577G>A	CCDS5551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.618	0.114819	0.08831	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.61040	0.14;0.14;0.14	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.082171	0.85682	N	0.000000	T	0.21590	0.0520	N	0.01086	-1.025	0.30548	N	0.765783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28490	-1.0042	10	0.02654	T	1	-24.6045	8.879	0.35363	0.0:0.0913:0.0:0.9087	.	157;193	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	193;193;157;193	ENSP00000307260:D193N;ENSP00000413979:D157N;ENSP00000407371:D193N	ENSP00000307260:D193N	D	-	1	0	TBL2	72625607	1.000000	0.71417	0.983000	0.44433	0.422000	0.31414	6.240000	0.72363	0.930000	0.37217	-0.367000	0.07326	GAC		0.522	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		94	490	0	0	0	1	0	94	490					T	72987671	C	T	72987671	3	4	79	1	0	0	0	0	1	0	0	0	15694	884	31	1	782	1	TBL2	7	72987671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80469	72987671	86150992	8436	18753											
MLXIPL	51085	broad.mit.edu	37	chr7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggctgggcactgaGtgtgctcacgagcccatgaa	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	679	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2035-2037)Ctc>Ttc		MLX interacting protein-like							48	47	47					7																	73010506		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010506G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2035C>T	7.37:g.73010506G>A	ENSP00000320886:p.Leu679Phe					MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	p.L679F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			13	2082	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	679					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2035C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107634	0.77096	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98617	-4.75;-5.03;-4.75;-5.03;-4.75;-4.75	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.98795	0.9594	M	0.78344	2.41	0.44677	D	0.997665	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.975;0.987	D	0.98052	1.0388	10	0.36615	T	0.2	-34.5749	11.168	0.48554	0.0894:0.0:0.9106:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	F	677;679;679;677;586;585	ENSP00000412330:L677F;ENSP00000406296:L679F;ENSP00000320886:L679F;ENSP00000346629:L677F;ENSP00000378616:L586F;ENSP00000392636:L585F	ENSP00000320886:L679F	L	-	1	0	MLXIPL	72648442	1.000000	0.71417	0.856000	0.33681	0.977000	0.68977	6.734000	0.74801	2.530000	0.85305	0.558000	0.71614	CTC		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		64	251	0	0	0	1	0	64	251					A	73010506	G	A	73010506	3	1	79	1	0	0	0	0	1	0	0	0	9678	1029	36	2	543	2	MLXIPL	7	73010506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22835	73010506	86128157	8437	18754											
MLXIPL	51085	broad.mit.edu	37	chr7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcaggaaggcgctggagtCcaaggggccagggcagctgt	17	10	1	0	rs375307110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	367					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1099-1101)Gac>Aac		MLX interacting protein-like		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,3258		0,0,1629	20	24	22		1099,1099,1099,1099	4.3	1	7		22	1,6775		0,1,3387	no	missense,missense,missense,missense	MLXIPL	NM_032951.2,NM_032952.2,NM_032953.2,NM_032954.2	23,23,23,23	0,1,5016	TT,TC,CC		0.0148,0.0,0.01	probably-damaging,probably-damaging,probably-damaging,probably-damaging	367/853,367/834,367/851,367/832	73012016	1,10033	1629	3388	5017	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73012016C>T	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1099G>A	7.37:g.73012016C>T	ENSP00000320886:p.Asp367Asn					MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			9	1146	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	367					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1099G>A	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851344	0.71719	0.0	1.48E-4	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24151	2.46;2.47;2.46;2.47;1.87;1.88	4.31	4.31	0.51392	.	1.866310	0.02698	N	0.111450	T	0.48223	0.1488	L	0.51422	1.61	0.19300	N	0.999974	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998;0.998	D;D;P;D;D;D	0.73708	0.981;0.917;0.829;0.917;0.917;0.917	T	0.21999	-1.0229	10	0.56958	D	0.05	-11.6524	9.7151	0.40270	0.2075:0.7925:0.0:0.0	.	274;274;367;367;367;367	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	N	367;367;367;367;274;274;200	ENSP00000412330:D367N;ENSP00000406296:D367N;ENSP00000320886:D367N;ENSP00000346629:D367N;ENSP00000378616:D274N;ENSP00000392636:D274N	ENSP00000320886:D367N	D	-	1	0	MLXIPL	72649952	0.996000	0.38824	0.998000	0.56505	0.942000	0.58702	1.454000	0.35178	1.945000	0.56424	0.423000	0.28283	GAC		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		16	195	0	0	0	1	0	16	195					T	73012016	C	T	73012016	3	4	79	1	0	0	0	0	1	0	0	0	9678	855	30	2	1495	2	MLXIPL	7	73012016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	73012016	86126647	8438	18755											
VPS37D	155382	broad.mit.edu	37	chr7	73085532	73085532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccccaaatccttcccGgctgcagctgtcctgcccac	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	ENST00000324941.4	+	4	716	c.582G>A	c.(580-582)ccG>ccA	p.P194P	VPS37D_ENST00000451519.1_Silent_p.P109P	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)				AATCCTTCCCGGCTGCAGCTG	0.736																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(580-582)ccG>ccA		vacuolar protein sorting 37 homolog D (S. cerevisiae)							6	6	6					7																	73085532		1531	3458	4989	SO:0001819	synonymous_variant	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085532G>A	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.582G>A	7.37:g.73085532G>A						VPS37D_ENST00000451519.1_Silent_p.P109P	p.P194P	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	716	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	194						Silent	SNP	ENST00000324941.4	37	c.582G>A	CCDS43596.1																																																																																				0.736	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		5	78	0	0	0	1	0	5	78					A	73085532	G	A	73085532	2	1	79	1	0	0	0	0	0	0	0	1	17262	1103	39	1		1	VPS37D	7	73085532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73516	73085532	86053131	8439	18756											
ABHD11	83451	broad.mit.edu	37	chr7	73151260	73151260	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actacccaggctagcttactGcacgaactgggagtttccac	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.814C>A	c.(814-816)Cat>Aat	p.H272N	ABHD11_ENST00000437775.2_Splice_Site_p.H265N|ABHD11_ENST00000395147.4_Splice_Site_p.H215N|ABHD11_ENST00000468998.1_5'Flank|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_Intron	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	272						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.e5+1		abhydrolase domain containing 11							121	120	121					7																	73151260		2203	4300	6503	SO:0001630	splice_region_variant	83451						hydrolase activity	g.chr7:73151260G>T	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.815+1C>A	7.37:g.73151260G>T						ABHD11_ENST00000395147.4_Splice_Site_p.H215_splice|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Splice_Site_p.H265_splice	p.H272_splice	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			5	883	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	272					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Splice_Site	SNP	ENST00000222800.3	37	c.815_splice	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547811	0.13312	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66995	-0.24;-0.24;-0.24	4.38	2.47	0.30058	Alpha/beta hydrolase fold-1 (1);	0.522037	0.21087	N	0.080383	T	0.34658	0.0905	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.16719	-1.0393	10	0.17832	T	0.49	1.1316	6.0827	0.19950	0.1074:0.1897:0.7029:0.0	.	265;272	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	N	265;272;215	ENSP00000416970:H265N;ENSP00000222800:H272N;ENSP00000378579:H215N	ENSP00000222800:H272N	H	-	1	0	ABHD11	72789196	0.161000	0.22892	0.479000	0.27329	0.245000	0.25701	2.379000	0.44318	0.823000	0.34589	0.561000	0.74099	CAT		0.612	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1		Missense_Mutation	140	580	1	0	3.6619e-90	1	4.70048e-90	140	580					T	73151260	G	T	73151260	5	4	79	1	0	0	0	0	0	0	1	0	75	1333	46	3	141	3	ABHD11	7	73151260	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65728	73151260	85987403	8440	18757											
CLDN3	1365	broad.mit.edu	37	chr7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggccgtgtacttcttctCgcgtgggggacacgagcagc	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	188					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(562-564)Gag>Aag		claudin 3							26	25	25					7																	73183818		2199	4295	6494	SO:0001583	missense	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73183818C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.562G>A	7.37:g.73183818C>T	ENSP00000378577:p.Glu188Lys						p.E188K	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	782	-		Lung NSC(55;0.159)	188						Missense_Mutation	SNP	ENST00000395145.2	37	c.562G>A	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076025	0.55646	.	.	ENSG00000165215	ENST00000395145	D	0.84660	-1.88	4.6	4.6	0.57074	.	0.481200	0.21587	N	0.072148	T	0.80259	0.4590	L	0.50333	1.59	0.47547	D	0.999459	B	0.12630	0.006	B	0.06405	0.002	T	0.74604	-0.3610	10	0.13470	T	0.59	.	14.9175	0.70810	0.0:1.0:0.0:0.0	.	188	O15551	CLD3_HUMAN	K	188	ENSP00000378577:E188K	ENSP00000378577:E188K	E	-	1	0	CLDN3	72821754	0.050000	0.20438	0.998000	0.56505	0.654000	0.38779	1.689000	0.37700	2.084000	0.62774	0.561000	0.74099	GAG		0.716	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		26	238	0	0	0	1	0	26	238					T	73183818	C	T	73183818	3	4	79	1	0	0	0	0	1	0	0	0	3495	893	31	1	104	1	CLDN3	7	73183818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32558	73183818	85954845	8441	18758											
CLDN3	1365	broad.mit.edu	37	chr7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccacgatgagggcgCgggccgcctgaaggtcctgt	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	80					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GATGAGGGCGCGGGCCGCCTG	0.677																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(238-240)cGc>cAc		claudin 3							43	36	39					7																	73184141		2203	4300	6503	SO:0001583	missense	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184141C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.239G>A	7.37:g.73184141C>T	ENSP00000378577:p.Arg80His						p.R80H	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	459	-		Lung NSC(55;0.159)	80						Missense_Mutation	SNP	ENST00000395145.2	37	c.239G>A	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245394	0.95272	.	.	ENSG00000165215	ENST00000395145	D	0.89875	-2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	H	0.98951	4.38	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	15.4509	0.75271	0.0:1.0:0.0:0.0	.	80	O15551	CLD3_HUMAN	H	80	ENSP00000378577:R80H	ENSP00000378577:R80H	R	-	2	0	CLDN3	72822077	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.773000	0.85462	2.223000	0.72356	0.561000	0.74099	CGC		0.677	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		14	174	0	0	0	1	0	14	174					T	73184141	C	T	73184141	3	4	79	1	0	0	0	0	1	0	0	0	3495	768	27	1	427	1	CLDN3	7	73184141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	73184141	85954522	8442	18759											
CLDN3	1365	broad.mit.edu	37	chr7	73184317	73184317	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggcaacgcgcagcacacGatggtgcccagccagcccag	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	ENST00000395145.2	-	1	283	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	21					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGCACACGATGGTGCCCA	0.682																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(61-63)atC>atT		claudin 3							40	33	35					7																	73184317		2203	4299	6502	SO:0001819	synonymous_variant	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184317G>A	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.63C>T	7.37:g.73184317G>A							p.I21I	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	283	-		Lung NSC(55;0.159)	21						Silent	SNP	ENST00000395145.2	37	c.63C>T	CCDS5559.1																																																																																				0.682	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		23	103	0	0	0	1	0	23	103					A	73184317	G	A	73184317	2	1	79	1	0	0	0	0	0	0	0	1	3495	1048	37	1		1	CLDN3	7	73184317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176	73184317	85954346	8443	18760											
ELN	2006	broad.mit.edu	37	chr7	73462039	73462039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctacaccacagggaaactGccctatggtgagtgagaccc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73462039G>A	ENST00000252034.7	+	13	1077	c.678G>A	c.(676-678)ctG>ctA	p.L226L	ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000380584.4_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000357036.5_Silent_p.L231L|ELN_ENST00000414324.1_Silent_p.L221L|ELN_ENST00000380553.4_Intron|ELN_ENST00000458204.1_Silent_p.L216L|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000320399.6_Silent_p.L226L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	226					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGGGAAACTGCCCTATGGTG	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(676-678)ctG>ctA		elastin	Rofecoxib(DB00533)						178	156	163					7																	73462039		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73462039G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.678G>A	7.37:g.73462039G>A						ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000380584.4_Intron|ELN_ENST00000458204.1_Silent_p.L216L|ELN_ENST00000357036.5_Silent_p.L231L|ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000320399.6_Silent_p.L226L|ELN_ENST00000320492.7_Intron|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000414324.1_Silent_p.L221L|ELN_ENST00000380553.4_Intron	p.L226L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			13	1077	+		Lung NSC(55;0.159)	226					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.678G>A	CCDS5562.2																																																																																				0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		10	440	0	0	0	1	0	10	440					A	73462039	G	A	73462039	2	1	79	1	0	0	0	0	0	0	0	1	5089	1306	46	2		2	ELN	7	73462039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277722	73462039	85676624	8444	18761											
ELN	2006	broad.mit.edu	37	chr7	73470641	73470641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggcattcctacttaCggggttggagctgggggctt	17	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000320399.6_Silent_p.Y397Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	397	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TTCCTACTTACGGGGTTGGAG	0.632			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1189-1191)taC>taT		elastin	Rofecoxib(DB00533)						100	107	104					7																	73470641		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73470641C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1191C>T	7.37:g.73470641C>T						ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380553.4_Silent_p.Y280Y	p.Y397Y	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			20	1590	+		Lung NSC(55;0.159)	397			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1191C>T	CCDS5562.2																																																																																				0.632	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		142	634	0	0	0	1	0	142	634					T	73470641	C	T	73470641	2	4	79	1	0	0	0	0	0	0	0	1	5089	547	19	1		1	ELN	7	73470641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8602	73470641	85668022	8445	18762											
LIMK1	3984	broad.mit.edu	37	chr7	73523282	73523282	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaacgtgctcaagttcatCggggtgctctacaaggacaa	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000336180.2	+	10	1251	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000418310.1_Silent_p.I430I	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCAAGTTCATCGGGGTGCTCT	0.597																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1288-1290)atC>atT		LIM domain kinase 1							123	96	105					7																	73523282		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73523282C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1200C>T	7.37:g.73523282C>T						LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000336180.2_Silent_p.I400I	p.I430I			P53667	LIMK1_HUMAN			10	1392	+		Lung NSC(55;0.137)	400			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.1290C>T	CCDS5563.1																																																																																				0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		43	232	0	0	0	1	0	43	232					T	73523282	C	T	73523282	2	4	79	1	0	0	0	0	0	0	0	1	8833	874	31	1		1	LIMK1	7	73523282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52641	73523282	85615381	8446	18763											
EIF4H	7458	broad.mit.edu	37	chr7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtcgttcaaaaggagCaagaatgagcctgcggttgg	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	247					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(739-741)Caa>Taa		eukaryotic translation initiation factor 4H							37	34	35					7																	73609630		2203	4300	6503	SO:0001587	stop_gained	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609630C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.739C>T	7.37:g.73609630C>T	ENSP00000265753:p.Gln247*					EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	p.Q247*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			7	878	+			247					A8K3R1|D3DXF6|D3DXF8	Nonsense_Mutation	SNP	ENST00000265753.8	37	c.739C>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516283	0.85495	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	4.49	4.49	0.54785	.	0.249975	0.33199	N	0.005166	.	.	.	.	.	.	0.31653	N	0.646531	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.0173	11.1794	0.48618	0.1841:0.8159:0.0:0.0	.	.	.	.	X	247;227	.	ENSP00000265753:Q247X	Q	+	1	0	EIF4H	73247566	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.312000	0.51927	2.321000	0.78463	0.563000	0.77884	CAA		0.607	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		37	204	0	0	0	1	0	37	204					T	73609630	C	T	73609630	4	4	79	1	0	0	0	0	0	1	0	0	5057	711	25	2	765	2	EIF4H	7	73609630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86348	73609630	85529033	8447	18764											
RFC2	5982	broad.mit.edu	37	chr7	73664070	73664070	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggctgggtactcaccGcaatgatgatgttgggcaca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	75					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGTACTCACCGCAATGATGAT	0.502																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.e3+1		replication factor C (activator 1) 2, 40kDa							185	150	162					7																	73664070		2203	4300	6503	SO:0001630	splice_region_variant	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73664070G>A		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.225+1C>T	7.37:g.73664070G>A						RFC2_ENST00000352131.3_Splice_Site_p.A75_splice	p.A75_splice	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			3	284	-			75					B5BU07|D3DXG3|P32846|Q9BU93	Splice_Site	SNP	ENST00000055077.3	37	c.225_splice	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411092	0.83340	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;D	0.92495	1.07;-3.05	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048801	0.85682	D	0.000000	D	0.85729	0.5764	N	0.04686	-0.185	0.80722	D	1	P;P;P	0.47191	0.593;0.646;0.891	B;P;P	0.45971	0.366;0.499;0.499	D	0.87888	0.2682	10	0.44086	T	0.13	.	16.4223	0.83771	0.0:0.0:1.0:0.0	.	75;75;75	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	V	75	ENSP00000275627:A75V;ENSP00000055077:A75V	ENSP00000055077:A75V	A	-	2	0	RFC2	73302006	1.000000	0.71417	0.921000	0.36526	0.423000	0.31445	9.318000	0.96334	2.309000	0.77851	0.442000	0.29010	GCG		0.502	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	Missense_Mutation	19	418	0	0	0	1	0	19	418					A	73664070	G	A	73664070	5	1	79	1	0	0	0	0	0	0	1	0	13295	1101	38	1	876	1	RFC2	7	73664070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54440	73664070	85474593	8448	18765											
CLIP2	7461	broad.mit.edu	37	chr7	73753262	73753262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagactggcaacgagtcGggatccaacctctcagacag	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000395060.1	+	2	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000223398.6_Silent_p.S202S|CLIP2_ENST00000361545.5_Silent_p.S202S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	202						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(604-606)tcG>tcA		CAP-GLY domain containing linker protein 2							34	34	34					7																	73753262		2093	4130	6223	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73753262G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.606G>A	7.37:g.73753262G>A						CLIP2_ENST00000361545.5_Silent_p.S202S|CLIP2_ENST00000395060.1_Silent_p.S202S	p.S202S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			3	933	+			202					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.606G>A	CCDS5569.1																																																																																				0.667	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		66	356	0	0	0	1	0	66	356					A	73753262	G	A	73753262	2	1	79	1	0	0	0	0	0	0	0	1	3542	1103	39	1		1	CLIP2	7	73753262	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89192	73753262	85385401	8449	18766											
CLIP2	7461	broad.mit.edu	37	chr7	73768230	73768230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgggacgaagactggCgtggtgcggtacgtggggga	22	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768230C>T	ENST00000395060.1	+	3	699	c.699C>T	c.(697-699)ggC>ggT	p.G233G	CLIP2_ENST00000223398.6_Silent_p.G233G|CLIP2_ENST00000361545.5_Silent_p.G233G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	233						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGACTGGCGTGGTGCGGT	0.647																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(697-699)ggC>ggT		CAP-GLY domain containing linker protein 2							128	108	115					7																	73768230		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73768230C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.699C>T	7.37:g.73768230C>T						CLIP2_ENST00000361545.5_Silent_p.G233G|CLIP2_ENST00000395060.1_Silent_p.G233G	p.G233G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1026	+			233					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.699C>T	CCDS5569.1																																																																																				0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		20	688	0	0	0	1	0	20	688					T	73768230	C	T	73768230	2	4	79	1	0	0	0	0	0	0	0	1	3542	755	27	1		1	CLIP2	7	73768230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14968	73768230	85370433	8450	18767											
CLIP2	7461	broad.mit.edu	37	chr7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgatggggcggtggCgggcaccaggtatggtgggc	21	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000395060.1	+	3	794	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V|CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(793-795)gCg>gTg		CAP-GLY domain containing linker protein 2							85	87	86					7																	73768325		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73768325C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.794C>T	7.37:g.73768325C>T	ENSP00000378500:p.Ala265Val					CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V|CLIP2_ENST00000395060.1_Missense_Mutation_p.A265V	p.A265V	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1121	+			265			CAP-Gly 2.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.794C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130631	0.77549	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.75050	-0.9;-0.9;-0.9	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.89636	0.3859	10	0.62326	D	0.03	-40.9586	18.1332	0.89608	0.0:1.0:0.0:0.0	.	265;265	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	265	ENSP00000223398:A265V;ENSP00000355151:A265V;ENSP00000378500:A265V	ENSP00000223398:A265V	A	+	2	0	CLIP2	73406261	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	7.452000	0.80683	2.861000	0.98227	0.655000	0.94253	GCG		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		140	630	0	0	0	1	0	140	630					T	73768325	C	T	73768325	3	4	79	1	0	0	0	0	1	0	0	0	3542	768	27	1	804	1	CLIP2	7	73768325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	73768325	85370338	8451	18768											
CLIP2	7461	broad.mit.edu	37	chr7	73790432	73790432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgctgcgggataaataCgagaaggccctgaaggccta	16	8	0	2	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000395060.1	+	9	1701	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_ENST00000223398.6_Silent_p.Y567Y|CLIP2_ENST00000361545.5_Silent_p.Y532Y			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	567						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1699-1701)taC>taT		CAP-GLY domain containing linker protein 2		C	,	0,4406		0,0,2203	29	32	31		1701,1596	2.2	1	7	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	567/1047,532/1012	73790432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73790432C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1701C>T	7.37:g.73790432C>T						CLIP2_ENST00000361545.5_Silent_p.Y532Y|CLIP2_ENST00000395060.1_Silent_p.Y567Y	p.Y567Y	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			10	2028	+			567					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1701C>T	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		36	173	0	0	0	1	0	36	173					T	73790432	C	T	73790432	2	4	79	1	0	0	0	0	0	0	0	1	3542	547	19	1		1	CLIP2	7	73790432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22107	73790432	85348231	8452	18769											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgctggaactccgcgttcAcccgcaaagacgagatcatc	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000265755.3	+	2	466	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	25					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(73-75)Acc>Gcc		GTF2I repeat domain containing 1							118	88	98					7																	73922483		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73922483A>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.73A>G	7.37:g.73922483A>G	ENSP00000265755:p.Thr25Ala					GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A	p.T25A			Q9UHL9	GT2D1_HUMAN			2	1764	+			25					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.73A>G	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	6.080	0.383092	0.11524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.66;1.65;1.66;1.65	4.57	-9.15	0.00698	.	0.620792	0.14960	N	0.288424	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13656	-1.0501	10	0.23891	T	0.37	-5.8659	2.0117	0.03489	0.5072:0.14:0.1851:0.1676	.	25;25;25;25	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	25	ENSP00000265755:T25A;ENSP00000397566:T25A;ENSP00000408477:T25A;ENSP00000418383:T25A	ENSP00000265755:T25A	T	+	1	0	GTF2IRD1	73560419	0.024000	0.19004	0.049000	0.19019	0.725000	0.41563	-0.315000	0.08081	-1.829000	0.01201	-0.441000	0.05720	ACC		0.647	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		49	232	0	0	0	1	0	49	232					G	73922483	A	G	73922483	3	3	79	1	0	0	0	0	1	0	0	0	6898	159	6	4	75	4	GTF2IRD1	7	73922483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	132051	73922483	85216180	8453	18770											
GTF2I	2969	broad.mit.edu	37	chr7	74114664	74114664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtagtgcaggggcttcCggaaggtgttgcctttaaac	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114664C>T	ENST00000324896.4	+	5	850	c.461C>T	c.(460-462)cCg>cTg	p.P154L	GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGGCTTCCGGAAGGTGTT	0.483																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(460-462)cCg>cTg		general transcription factor IIi							118	118	118					7																	74114664		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114664C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.461C>T	7.37:g.74114664C>T	ENSP00000322542:p.Pro154Leu					AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L	p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			5	850	+			154					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.461C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578469	0.65878	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.41	4.52	0.55395	.	0.165289	0.42294	D	0.000729	D	0.89111	0.6622	M	0.87682	2.9	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;0.998;1.0;1.0;1.0	D	0.90966	0.4816	10	0.87932	D	0	-11.075	14.68	0.69009	0.1461:0.8539:0.0:0.0	.	154;154;154;154;154;154	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	L	154;149;154;154;154;154	ENSP00000322542:P154L;ENSP00000322671:P154L;ENSP00000322599:P154L;ENSP00000387651:P154L;ENSP00000404240:P154L	ENSP00000322542:P154L	P	+	2	0	GTF2I	73752600	1.000000	0.71417	0.865000	0.33974	0.571000	0.35966	5.436000	0.66538	1.270000	0.44297	0.484000	0.47621	CCG		0.483	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		154	609	0	0	0	1	0	154	609					T	74114664	C	T	74114664	3	4	79	1	0	0	0	0	1	0	0	0	6897	652	23	1	475	1	GTF2I	7	74114664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192181	74114664	85023999	8454	18771											
GTF2I	2969	broad.mit.edu	37	chr7	74114695	74114695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaaacaccccgagaaCtatgatcttgcaaccctgaa	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	164					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(490-492)aaC>aaT		general transcription factor IIi							118	119	119					7																	74114695		2203	4300	6503	SO:0001819	synonymous_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114695C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.492C>T	7.37:g.74114695C>T						AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Silent_p.N164N|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N	p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			5	881	+			164					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	ENST00000324896.4	37	c.492C>T	CCDS5573.1																																																																																				0.478	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		154	608	0	0	0	1	0	154	608					T	74114695	C	T	74114695	2	4	79	1	0	0	0	0	0	0	0	1	6897	564	20	2		2	GTF2I	7	74114695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	74114695	85023968	8455	18772											
POM121C	100101267	broad.mit.edu	37	chr7	75051253	75051253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtaggctggatgggcGtaggcacgtgcgcaggcacg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75051253G>A	ENST00000257665.5	-	11	3007	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.T761M			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1003	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGATGGGCGTAGGCACGTG	0.637																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2281-2283)aCg>aTg		POM121 transmembrane nucleoporin C							34	36	35					7																	75051253		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051253G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3008C>T	7.37:g.75051253G>A	ENSP00000257665:p.Thr1003Met					POM121C_ENST00000257665.5_Missense_Mutation_p.T1003M	p.T761M	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			13	3146	-			1003			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2282C>T		.	.	.	.	.	.	.	.	.	.	G	12.64	1.999216	0.35226	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.19669	3.61;2.13	0.351	0.351	0.16042	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.31283	N	0.690388	D	0.69078	0.997	P	0.45071	0.468	T	0.22591	-1.0212	8	0.62326	D	0.03	.	.	.	.	.	1003	A8CG34	P121C_HUMAN	M	1003;761	ENSP00000257665:T1003M;ENSP00000414208:T761M	ENSP00000257665:T1003M	T	-	2	0	POM121C	74889189	0.201000	0.23410	0.009000	0.14445	0.003000	0.03518	0.672000	0.25187	0.399000	0.25367	0.404000	0.27445	ACG		0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		10	333	0	0	0	1	0	10	333					A	75051253	G	A	75051253	3	1	79	1	0	0	0	0	1	0	0	0	12282	1145	40	1	693	1	POM121C	7	75051253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936558	75051253	84087410	8456	18773											
HIP1	3092	broad.mit.edu	37	chr7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatactgcttacaggcctCggtcagtgctggagatacaa	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000336926.6	-	22	2193	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	723					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTACAGGCCTCGGTCAGTGCT	0.562			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2167-2169)Gag>Aag		huntingtin interacting protein 1							68	57	60					7																	75182880		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75182880C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2167G>A	7.37:g.75182880C>T	ENSP00000336747:p.Glu723Lys					HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			22	2193	-			723					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2167G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392104	0.42410	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.72;2.49	5.17	4.3	0.51218	.	0.349867	0.36374	N	0.002631	T	0.13243	0.0321	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.004	B;B	0.09377	0.004;0.004	T	0.05053	-1.0909	10	0.30078	T	0.28	-15.5609	10.8155	0.46573	0.0:0.9123:0.0:0.0877	.	723;723	E7ES17;O00291	.;HIP1_HUMAN	K	723	ENSP00000336747:E723K;ENSP00000410300:E723K	ENSP00000336747:E723K	E	-	1	0	HIP1	75020816	0.999000	0.42202	0.873000	0.34254	0.553000	0.35397	5.389000	0.66255	1.419000	0.47118	0.650000	0.86243	GAG		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		48	211	0	0	0	1	0	48	211					T	75182880	C	T	75182880	3	4	79	1	0	0	0	0	1	0	0	0	7144	893	31	1	986	1	HIP1	7	75182880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131627	75182880	83955783	8457	18774											
HIP1	3092	broad.mit.edu	37	chr7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttggcaagctggcacataGattcctaaaaatggtccagg	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000336926.6	-	19	1858	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	611					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGCACATAGATTCCTAAAA	0.517			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1831-1833)tCt>tAt		huntingtin interacting protein 1							56	51	53					7																	75184851		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75184851G>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1832C>A	7.37:g.75184851G>T	ENSP00000336747:p.Ser611Tyr					HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			19	1858	-			611					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1832C>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221613	0.39300	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.64;2.42	5.76	5.76	0.90799	.	0.416790	0.23325	N	0.049414	T	0.12220	0.0297	N	0.08118	0	0.18873	N	0.999987	P;P	0.50710	0.74;0.938	B;P	0.46758	0.212;0.526	T	0.13282	-1.0515	10	0.62326	D	0.03	-6.2134	10.9381	0.47257	0.0855:0.0:0.9145:0.0	.	611;611	E7ES17;O00291	.;HIP1_HUMAN	Y	611	ENSP00000336747:S611Y;ENSP00000410300:S611Y	ENSP00000336747:S611Y	S	-	2	0	HIP1	75022787	0.840000	0.29493	0.421000	0.26609	0.059000	0.15707	3.945000	0.56637	2.721000	0.93114	0.655000	0.94253	TCT		0.517	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		15	199	1	0	2.31682e-05	1	2.36778e-05	15	199					T	75184851	G	T	75184851	3	4	79	1	0	0	0	0	1	0	0	0	7144	942	33	3	1333	3	HIP1	7	75184851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	75184851	83953812	8458	18775											
HIP1	3092	broad.mit.edu	37	chr7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacttctcctttagcttgCtatatcgctgttcattggct	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000336926.6	-	15	1432	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	469	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTTAGCTTGCTATATCGCTG	0.542			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1405-1407)aGc>aTc		huntingtin interacting protein 1							233	185	201					7																	75187529		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75187529C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1406G>T	7.37:g.75187529C>A	ENSP00000336747:p.Ser469Ile					HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			15	1432	-			469			pDED.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1406G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626792	0.46840	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.7;2.49	5.18	4.24	0.50183	.	0.192946	0.56097	D	0.000033	T	0.13500	0.0327	L	0.54323	1.7	0.40654	D	0.982062	P;P	0.45531	0.86;0.767	B;B	0.36845	0.234;0.168	T	0.04855	-1.0922	10	0.52906	T	0.07	-21.3599	13.0976	0.59202	0.0:0.7076:0.2924:0.0	.	469;469	E7ES17;O00291	.;HIP1_HUMAN	I	469	ENSP00000336747:S469I;ENSP00000410300:S469I	ENSP00000336747:S469I	S	-	2	0	HIP1	75025465	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.944000	0.40263	2.417000	0.82017	0.591000	0.81541	AGC		0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		72	355	1	0	3.71121e-27	1	4.29247e-27	72	355					A	75187529	C	A	75187529	3	1	79	1	0	0	0	0	1	0	0	0	7144	797	28	3	1775	3	HIP1	7	75187529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2678	75187529	83951134	8459	18776											
HIP1	3092	broad.mit.edu	37	chr7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgtcactcaattcatttCtgtatctcagagagtccttc	5	11	6	1	rs369879797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000336926.6	-	4	379	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	118	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAATTCATTTCTGTATCTCAG	0.502			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(352-354)aGa>aTa		huntingtin interacting protein 1							164	144	151					7																	75221405		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75221405C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.353G>T	7.37:g.75221405C>A	ENSP00000336747:p.Arg118Ile					HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			4	379	-			118			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.353G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576197	0.86645	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32988	1.43;1.43;1.43	6.01	4.89	0.63831	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.040310	0.85682	D	0.000000	T	0.25044	0.0608	L	0.39898	1.24	0.54753	D	0.999987	B	0.16166	0.016	B	0.25759	0.063	T	0.05435	-1.0885	10	0.25751	T	0.34	-20.8002	9.3504	0.38133	0.0:0.0869:0.0:0.9131	.	118	O00291	HIP1_HUMAN	I	118;118;89	ENSP00000336747:R118I;ENSP00000410300:R118I;ENSP00000414280:R89I	ENSP00000336747:R118I	R	-	2	0	HIP1	75059341	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	4.605000	0.61119	1.140000	0.42260	0.650000	0.86243	AGA		0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		90	419	1	0	2.1089e-46	1	2.5903e-46	90	419					A	75221405	C	A	75221405	3	1	79	1	0	0	0	0	1	0	0	0	7144	913	32	3	2872	3	HIP1	7	75221405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	75221405	83917258	8460	18777											
CCL24	6369	broad.mit.edu	37	chr7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatatctctggacagggCccttgacagccactgccctg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	107					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(319-321)gGc>gAc		chemokine (C-C motif) ligand 24							79	69	73					7																	75441154		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441154C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.320G>A	7.37:g.75441154C>T	ENSP00000400533:p.Gly107Asp					CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	413	-			107					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.320G>A	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748531	0.15710	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03889	3.77;3.77	3.62	-4.49	0.03504	Chemokine interleukin-8-like domain (1);	2.562570	0.01641	N	0.024070	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.20384	0.029	T	0.36841	-0.9731	10	0.42905	T	0.14	.	5.6435	0.17577	0.3951:0.1633:0.4416:0.0	.	107	O00175	CCL24_HUMAN	D	107	ENSP00000222902:G107D;ENSP00000400533:G107D	ENSP00000222902:G107D	G	-	2	0	CCL24	75279090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.177000	0.09796	-0.929000	0.03757	-0.425000	0.05940	GGC		0.627	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		34	237	0	0	0	1	0	34	237					T	75441154	C	T	75441154	3	4	79	1	0	0	0	0	1	0	0	0	2903	739	26	2	41	2	CCL24	7	75441154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219749	75441154	83697509	8461	18778											
RHBDD2	57414	broad.mit.edu	37	chr7	75511175	75511175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtaacctacatctttgtCtacgagaatcccatctccct	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000006777.6	+	2	342	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	69						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577																																						ENST00000006777.6																			0				kidney(1)|lung(4)|prostate(1)	6						c.(205-207)gtC>gtT		rhomboid domain containing 2							88	95	93					7																	75511175		2009	4173	6182	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511175C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.207C>T	7.37:g.75511175C>T						RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	p.V69V	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN			2	342	+			69					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.207C>T	CCDS43602.1																																																																																				0.577	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		143	622	0	0	0	1	0	143	622					T	75511175	C	T	75511175	2	4	79	1	0	0	0	0	0	0	0	1	13367	900	32	2		2	RHBDD2	7	75511175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70021	75511175	83627488	8462	18779											
TMEM120A	5447	broad.mit.edu	37	chr7	75616720	75616720	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggccaggttgaacaaCgtcagcgcgttaaaaagctg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75616720C>T	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGTTGAACAACGTCAGCGCGT	0.622																																						ENST00000493111.2																			0													transmembrane protein 120A							35	42	39					7																	75616720		1968	4146	6114	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75616720C>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616720C>T						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	875	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	ENST00000461988.1	37		CCDS5579.1																																																																																				0.622	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		3	28	0	0	0	1	0	3	28					T	75616720	C	T	75616720	1	4	79	0	1	0	0	0	0	0	0	0	16085	523	19	1		1	TMEM120A	7	75616720	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105545	75616720	83521943	8463	18780											
MDH2	4191	broad.mit.edu	37	chr7	75684225	75684226	+	Frame_Shift_Ins	INS	-	-	A													ttctcctgaagaacagccccINSttggtgagccgcctgaccct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75684225_75684226insA	ENST00000315758.5	+	2	238_239	c.144_145insA	c.(145-147)ttgfs	p.L49fs	MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000432020.2_Frame_Shift_Ins_p.L49fs|MDH2_ENST00000443006.1_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	49					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						AGAACAGCCCCTTGGTGAGCCG	0.564																																						ENST00000315758.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						c.(142-147)cctggtfs		malate dehydrogenase 2, NAD (mitochondrial)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75684225_75684226insA		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	Exception_encountered	7.37:g.75684225_75684226insA	ENSP00000327070:p.Leu49fs					MDH2_ENST00000432020.2_Frame_Shift_Ins_p.G49fs|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_Intron	p.G49fs	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN			2	238_239	+			49					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Frame_Shift_Ins	INS	ENST00000315758.5	37	c.144_145insA	CCDS5581.1																																																																																				0.564	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			20	820						20	820	---	---	---	---	A	75684226	-	A	75684225	7	5	79	1	0	1	1	0	0	0	0	0	9451	668	24	0	150	0	MDH2	7	75684225	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	67505	75684225	83454438	8464	18781											
YWHAG	7532	broad.mit.edu	37	chr7	75959524	75959524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaggtttcgttcctcattCgacagtggctcattcagctc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	38					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(112-114)tcG>tcA		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							76	58	64					7																	75959524		2203	4300	6503	SO:0001819	synonymous_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959524C>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.114G>A	7.37:g.75959524C>T							p.S38S	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	336	-			38					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	37	c.114G>A	CCDS5584.1																																																																																				0.502	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		59	245	0	0	0	1	0	59	245					T	75959524	C	T	75959524	2	4	79	1	0	0	0	0	0	0	0	1	17557	871	31	1		1	YWHAG	7	75959524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275299	75959524	83179139	8465	18782											
SRCRB4D	136853	broad.mit.edu	37	chr7	76024632	76024632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggcagtgctgtgagcGttgggggacccaggcctagg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76024632G>A	ENST00000275560.3	-	7	1231	c.884C>T	c.(883-885)aCg>aTg	p.T295M	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCTGTGAGCGTTGGGGGACC	0.627																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(883-885)aCg>aTg		scavenger receptor cysteine rich domain containing, group B (4 domains)							53	51	52					7																	76024632		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76024632G>A																												ENST00000275560.3:c.884C>T	7.37:g.76024632G>A	ENSP00000275560:p.Thr295Met						p.T295M	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			7	1231	-			295						Missense_Mutation	SNP	ENST00000275560.3	37	c.884C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780007	0.31502	.	.	ENSG00000146700	ENST00000275560	T	0.01287	5.05	4.03	4.03	0.46877	Speract/scavenger receptor-related (1);	1.036360	0.07576	N	0.919459	T	0.01353	0.0044	N	0.14661	0.345	0.23435	N	0.99768	P	0.51653	0.947	B	0.39027	0.288	T	0.56463	-0.7975	10	0.46703	T	0.11	.	11.9696	0.53055	0.0:0.0:1.0:0.0	.	295	Q8WTU2	SRB4D_HUMAN	M	295	ENSP00000275560:T295M	ENSP00000275560:T295M	T	-	2	0	SRCRB4D	75862568	0.169000	0.23002	0.256000	0.24389	0.019000	0.09904	2.831000	0.48144	2.523000	0.85059	0.655000	0.94253	ACG		0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			16	302	0	0	0	1	0	16	302					A	76024632	G	A	76024632	3	1	79	1	0	0	0	0	1	0	0	0	15189	1145	40	1	863	1	SRCRB4D	7	76024632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65108	76024632	83114031	8466	18783											
DTX2	113878	broad.mit.edu	37	chr7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccacacgcagaccaacaaGacttccagcttctgccgcag	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	164	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGACCAACAAGACTTCCAGCT	0.647																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(490-492)aaG>aaT		deltex homolog 2 (Drosophila)							58	49	52					7																	76112048		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112048G>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.492G>T	7.37:g.76112048G>T	ENSP00000322885:p.Lys164Asn					DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N	p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1002	+			164			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.492G>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737445	0.49045	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.41	3.6	0.41247	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.52011	1.625	0.48901	D	0.999729	D;D;D	0.76494	0.996;0.999;0.996	D;D;P	0.71414	0.931;0.973;0.88	T	0.43114	-0.9411	10	0.33940	T	0.23	-28.7245	8.4975	0.33136	0.2368:0.0:0.7632:0.0	.	73;164;164	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	164;164;73;73;164;164;164	ENSP00000322885:K164N;ENSP00000305242:K164N;ENSP00000397648:K73N;ENSP00000390218:K164N;ENSP00000411986:K164N;ENSP00000392545:K164N	ENSP00000305242:K164N	K	+	3	2	AC005522.1	75949984	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	2.134000	0.42102	0.673000	0.31224	0.561000	0.74099	AAG		0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			27	261	1	0	1.77063e-15	1	1.9355e-15	27	261					T	76112048	G	T	76112048	3	4	79	1	0	0	0	0	1	0	0	0	4810	933	33	3	498	3	DTX2	7	76112048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87416	76112048	83026615	8467	18784											
DTX2	113878	broad.mit.edu	37	chr7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagccatgccttccacctgCtgtgcctcctggccatgtac	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	452					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTCCACCTGCTGTGCCTCCT	0.647																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(1354-1356)Ctg>Atg		deltex homolog 2 (Drosophila)							71	50	57					7																	76131738		2202	4295	6497	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76131738C>A		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1354C>A	7.37:g.76131738C>A	ENSP00000322885:p.Leu452Met					DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M	p.L452M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			9	1864	+			452					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1354C>A	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498720	0.85069	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85629	1.92;-2.01;1.92;1.92;1.92;-2.01	5.48	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.139272	0.49916	D	0.000130	D	0.91751	0.7391	M	0.80183	2.485	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.987;0.939;1.0;0.987;0.961	D;D;D;D;D	0.97110	0.986;0.979;1.0;0.986;0.975	D	0.91606	0.5299	10	0.46703	T	0.11	-29.1279	12.9873	0.58598	0.0:0.9222:0.0:0.0778	.	361;83;361;405;452	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	M	452;405;361;361;452;452;405	ENSP00000322885:L452M;ENSP00000305242:L405M;ENSP00000397648:L361M;ENSP00000390218:L452M;ENSP00000411986:L452M;ENSP00000392545:L405M	ENSP00000305242:L405M	L	+	1	2	AC005522.1	75969674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.994000	0.70623	1.314000	0.45095	0.655000	0.94253	CTG		0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			44	146	1	0	1.51926e-22	1	1.72e-22	44	146					A	76131738	C	A	76131738	3	1	79	1	0	0	0	0	1	0	0	0	4810	796	28	3	1376	3	DTX2	7	76131738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19690	76131738	83006925	8468	18785											
DTX2	113878	broad.mit.edu	37	chr7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctgctgtgcctcctgGccatgtactgcaacggcaat	9	15	0	0	rs532326466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	456					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGCCTCCTGGCCATGTACTG	0.662													.|||	6	0.00119808	0.0	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0061					ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(1366-1368)Gcc>Acc		deltex homolog 2 (Drosophila)							62	44	50					7																	76131750		2200	4297	6497	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76131750G>A		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1366G>A	7.37:g.76131750G>A	ENSP00000322885:p.Ala456Thr					DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T	p.A456T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			9	1876	+			456					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1366G>A	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	33	5.238086	0.95240	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85955	1.9;-2.05;1.9;1.9;1.9;-2.05	5.48	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.105806	0.64402	D	0.000005	D	0.92286	0.7553	M	0.84326	2.69	0.80722	D	1	D;P;D;P;B	0.89917	0.976;0.954;1.0;0.944;0.278	D;D;D;D;P	0.97110	0.948;0.927;1.0;0.948;0.668	D	0.92566	0.6062	10	0.51188	T	0.08	-25.3383	14.377	0.66884	0.0:0.0:0.8509:0.1491	.	365;87;365;409;456	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	T	456;409;365;365;456;456;409	ENSP00000322885:A456T;ENSP00000305242:A409T;ENSP00000397648:A365T;ENSP00000390218:A456T;ENSP00000411986:A456T;ENSP00000392545:A409T	ENSP00000305242:A409T	A	+	1	0	AC005522.1	75969686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	1.258000	0.44101	0.655000	0.94253	GCC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			47	140	0	0	0	1	0	47	140					A	76131750	G	A	76131750	3	1	79	1	0	0	0	0	1	0	0	0	4810	1203	42	2	1388	2	DTX2	7	76131750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	76131750	83006913	8469	18786											
PION	54103	broad.mit.edu	37	chr7	76943748	76943748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccactgtcaatgcaatgCagcaggttatgcaaagggag	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76943748C>T	ENST00000257626.7	-	27	2226	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Silent_p.L37L	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	716					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CAATGCAATGCAGCAGGTTAT	0.493																																						ENST00000257626.7																			0											c.(2146-2148)ctG>ctA		gamma-secretase activating protein							112	112	112					7																	76943748		2027	4180	6207	SO:0001819	synonymous_variant	54103							g.chr7:76943748C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2148G>A	7.37:g.76943748C>T						GSAP_ENST00000441833.2_Silent_p.L37L|GSAP_ENST00000440473.1_5'UTR	p.L716L	NM_017439.3	NP_059135.2					27	2226	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.2148G>A	CCDS34672.2																																																																																				0.493	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		57	255	0	0	0	1	0	57	255					T	76943748	C	T	76943748	2	4	79	1	0	0	0	0	0	0	0	1	11976	697	25	2		2	PION	7	76943748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	811998	76943748	82194915	8470	18787											
PION	54103	broad.mit.edu	37	chr7	76950696	76950696	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtttcctccaattggtttCtacgatgtggcaaatgagat	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76950696C>T	ENST00000257626.7	-	25	2026	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	650					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CAATTGGTTTCTACGATGTGG	0.458																																						ENST00000257626.7																			0											c.(1948-1950)Gaa>Aaa		gamma-secretase activating protein							118	117	117					7																	76950696		1975	4166	6141	SO:0001583	missense	54103							g.chr7:76950696C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1948G>A	7.37:g.76950696C>T	ENSP00000257626:p.Glu650Lys					GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	p.E650K	NM_017439.3	NP_059135.2					25	2026	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1948G>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096086	0.36952	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.30714	1.52;1.52	5.56	5.56	0.83823	.	0.106321	0.64402	D	0.000005	T	0.27629	0.0679	L	0.40543	1.245	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02713	-1.1120	10	0.25751	T	0.34	.	16.8033	0.85619	0.0:1.0:0.0:0.0	.	650	A4D1B5	GSAP_HUMAN	K	650;103	ENSP00000257626:E650K;ENSP00000396230:E103K	ENSP00000257626:E650K	E	-	1	0	PION	76788632	1.000000	0.71417	0.844000	0.33320	0.068000	0.16541	3.095000	0.50235	2.777000	0.95525	0.591000	0.81541	GAA		0.458	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		54	201	0	0	0	1	0	54	201					T	76950696	C	T	76950696	3	4	79	1	0	0	0	0	1	0	0	0	11976	922	32	2	644	2	PION	7	76950696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6948	76950696	82187967	8471	18788											
PTPN12	5782	broad.mit.edu	37	chr7	77166902	77166902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaattcatccagagGgtccaggccatgaagagtcc	12	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	ENST00000248594.6	+	1	311	c.39G>A	c.(37-39)agG>agA	p.R13R	PTPN12_ENST00000415482.2_5'Flank|PTPN12_ENST00000435495.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	13					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATCCAGAGGGTCCAGGCCA	0.667																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(37-39)agG>agA		protein tyrosine phosphatase, non-receptor type 12							46	41	43					7																	77166902		2203	4300	6503	SO:0001819	synonymous_variant	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77166902G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.39G>A	7.37:g.77166902G>A							p.R13R	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			1	311	+			13					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.39G>A	CCDS5592.1																																																																																				0.667	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			14	71	0	0	0	1	0	14	71					A	77166902	G	A	77166902	2	1	79	1	0	0	0	0	0	0	0	1	12829	1223	43	2		2	PTPN12	7	77166902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216206	77166902	81971761	8472	18789											
PHTF2	57157	broad.mit.edu	37	chr7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacttggaacaactcacaGcacattctgcttcagaactt	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000248550.7	+	13	1664	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1486-1488)Gca>Tca		putative homeodomain transcription factor 2							118	109	112					7																	77569467		1871	4107	5978	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569467G>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1588G>T	7.37:g.77569467G>T	ENSP00000248550:p.Ala530Ser					PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A530S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S	p.A496S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1612	+			530					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1486G>T		.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179508	0.06380	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	-0.561	0.11785	.	0.372810	0.28082	N	0.016665	T	0.17023	0.0409	N	0.08118	0	0.24462	N	0.994431	B;B;B;B;B;B	0.12630	0.004;0.005;0.006;0.003;0.001;0.0	B;B;B;B;B;B	0.13407	0.002;0.007;0.009;0.003;0.002;0.001	T	0.32587	-0.9901	9	0.02654	T	1	-2.4148	11.3773	0.49735	0.5221:0.0:0.4779:0.0	.	291;492;496;530;492;492	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	496;496;492;492;492;496;530	.	ENSP00000248550:A530S	A	+	1	0	PHTF2	77407403	0.888000	0.30383	0.969000	0.41365	0.995000	0.86356	0.168000	0.16622	-0.147000	0.11254	0.557000	0.71058	GCA		0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		42	197	1	0	1.49673e-21	1	1.68722e-21	42	197					T	77569467	G	T	77569467	3	4	79	1	0	0	0	0	1	0	0	0	11905	971	34	3	1586	3	PHTF2	7	77569467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402565	77569467	81569196	8473	18790											
MAGI2	9863	broad.mit.edu	37	chr7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacgtcgtgttcccgtTtgatatcccaagttgggcct	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000522391.1_3'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1289					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGTTCCCGTTTGATATCCCA	0.622																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3865-3867)aAa>aCa		membrane associated guanylate kinase, WW and PDZ domain containing 2							83	98	92					7																	77649134		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77649134T>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3866A>C	7.37:g.77649134T>G	ENSP00000346151:p.Lys1289Thr					MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	p.K1289T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			22	4119	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1289					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3866A>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.964108	0.34659	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.10668	2.85;2.85	4.59	3.45	0.39498	.	.	.	.	.	T	0.05960	0.0155	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.007	T	0.31420	-0.9944	9	0.15499	T	0.54	.	9.518	0.39117	0.0:0.0843:0.0:0.9157	.	1275;1289	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1275;1289	ENSP00000405766:K1275T;ENSP00000346151:K1289T	ENSP00000346151:K1289T	K	-	2	0	MAGI2	77487070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.347000	0.65998	1.710000	0.51325	0.445000	0.29226	AAA		0.622	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		110	441	0	0	0	1	0	110	441					G	77649134	T	G	77649134	3	3	79	1	0	0	0	0	1	0	0	0	9232	1841	64	4	505	4	MAGI2	7	77649134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79667	77649134	81489529	8474	18791											
MAGI2	9863	broad.mit.edu	37	chr7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtacctggggttgTctgtagtccgacagagggta	18	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1138					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGTTGTCTGTAGTCCG	0.592																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3412-3414)agA>agC		membrane associated guanylate kinase, WW and PDZ domain containing 2							81	85	84					7																	77756523		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756523T>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3414A>C	7.37:g.77756523T>G	ENSP00000346151:p.Arg1138Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	p.R1138S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			19	3667	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1138					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3414A>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744693	0.49151	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.16073	2.37;2.37;2.37	5.33	3.52	0.40303	PDZ/DHR/GLGF (1);	0.000000	0.39544	U	0.001328	T	0.24353	0.0590	L	0.27053	0.805	0.80722	D	1	D;P;D	0.63880	0.981;0.73;0.993	D;B;D	0.72338	0.966;0.391;0.977	T	0.01323	-1.1385	10	0.41790	T	0.15	.	8.78	0.34785	0.0:0.6451:0.0:0.3549	.	1138;1124;1138	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1124;1138;1138;1138	ENSP00000405766:R1124S;ENSP00000346151:R1138S;ENSP00000428389:R1138S	ENSP00000346151:R1138S	R	-	3	2	MAGI2	77594459	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	0.043000	0.13971	0.733000	0.32492	-0.132000	0.14878	AGA		0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		50	563	0	0	0	1	0	50	563					G	77756523	T	G	77756523	3	3	79	1	0	0	0	0	1	0	0	0	9232	1664	58	4	969	4	MAGI2	7	77756523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107389	77756523	81382140	8475	18792											
MAGI2	9863	broad.mit.edu	37	chr7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggatacagagcctggaCttctcccgttctctgggcag	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N|MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	875					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAGCCTGGACTTCTCCCGTT	0.537																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2623-2625)aGt>aAt		membrane associated guanylate kinase, WW and PDZ domain containing 2							123	115	117					7																	77789563		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77789563C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2624G>A	7.37:g.77789563C>T	ENSP00000346151:p.Ser875Asn					MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			16	2877	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	875					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2624G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344979	0.95807	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.84;2.84;2.75	5.51	5.51	0.81932	.	0.000000	0.42548	U	0.000685	T	0.32010	0.0815	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.985;0.99;0.993	P;D;P	0.63488	0.715;0.915;0.813	T	0.00822	-1.1552	10	0.54805	T	0.06	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	875;861;875	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	861;875;875;875	ENSP00000405766:S861N;ENSP00000346151:S875N;ENSP00000428389:S875N	ENSP00000346151:S875N	S	-	2	0	MAGI2	77627499	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	AGT		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		61	249	0	0	0	1	0	61	249					T	77789563	C	T	77789563	3	4	79	1	0	0	0	0	1	0	0	0	9232	565	20	2	1771	2	MAGI2	7	77789563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33040	77789563	81349100	8476	18793											
MAGI2	9863	broad.mit.edu	37	chr7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcttcaggatcaaaggGcaaagggtagccacgacaca	13	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	513					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATCAAAGGGCAAAGGGTAG	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1537-1539)Ccc>Tcc		membrane associated guanylate kinase, WW and PDZ domain containing 2							75	63	67					7																	77885770		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885770G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1537C>T	7.37:g.77885770G>A	ENSP00000346151:p.Pro513Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S	p.P513S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1790	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	513					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1537C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082237	0.76528	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002563	T	0.68210	0.2976	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.797;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.959;0.998;0.998;1.0;0.998	T	0.74708	-0.3574	10	0.87932	D	0	.	16.3924	0.83544	0.0:0.1314:0.8686:0.0	.	350;345;513;513;513;513	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	513;513;513;513;345;350	ENSP00000405766:P513S;ENSP00000346151:P513S;ENSP00000428389:P513S;ENSP00000441584:P345S;ENSP00000441603:P350S	ENSP00000346151:P513S	P	-	1	0	MAGI2	77723706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	1.508000	0.48769	0.555000	0.69702	CCC		0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		24	138	0	0	0	1	0	24	138					A	77885770	G	A	77885770	3	1	79	1	0	0	0	0	1	0	0	0	9232	1203	42	2	2882	2	MAGI2	7	77885770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96207	77885770	81252893	8477	18794											
MAGI2	9863	broad.mit.edu	37	chr7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttcaactgggatgcaTcccgggtgaagagtggtttt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	416					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGATGCATCCCGGGTGAA	0.443																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1246-1248)gAt>gGt		membrane associated guanylate kinase, WW and PDZ domain containing 2							100	84	90					7																	77973256		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973256T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1247A>G	7.37:g.77973256T>C	ENSP00000346151:p.Asp416Gly					MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G	p.D416G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1500	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	416					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1247A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667297	0.88348	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.91	5.91	0.95273	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002025	T	0.63474	0.2514	M	0.67397	2.05	0.80722	D	1	D;P;P;P;D;D	0.76494	0.998;0.615;0.942;0.942;0.999;0.977	D;P;P;P;D;D	0.81914	0.991;0.703;0.862;0.862;0.995;0.991	T	0.66240	-0.5973	10	0.72032	D	0.01	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;248;416;416;416;416	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	G	416;416;416;416;248;253	ENSP00000405766:D416G;ENSP00000346151:D416G;ENSP00000428389:D416G;ENSP00000441584:D248G;ENSP00000441603:D253G	ENSP00000346151:D416G	D	-	2	0	MAGI2	77811192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT		0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		14	283	0	0	0	1	0	14	283					C	77973256	T	C	77973256	3	2	79	1	0	0	0	0	1	0	0	0	9232	1435	50	4	3176	4	MAGI2	7	77973256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87486	77973256	81165407	8478	18795											
MAGI2	9863	broad.mit.edu	37	chr7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttttgcttccaggacagGattttcaaactgtgttcttc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	379	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGGACAGGATTTTCAAAC	0.423																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1135-1137)Cct>Tct		membrane associated guanylate kinase, WW and PDZ domain containing 2							195	183	187					7																	77975329		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77975329G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1135C>T	7.37:g.77975329G>A	ENSP00000346151:p.Pro379Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S	p.P379S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			8	1388	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	379			Interaction with DDN.|WW 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1135C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861842	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.36482	U	0.002563	D	0.99701	0.9886	H	0.98068	4.14	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;0.999	D	0.97426	1.0012	10	0.87932	D	0	.	18.8946	0.92419	0.0:0.0:1.0:0.0	.	216;211;379;379	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	379;379;379;379;211;216	ENSP00000405766:P379S;ENSP00000346151:P379S;ENSP00000428389:P379S;ENSP00000441584:P211S;ENSP00000441603:P216S	ENSP00000346151:P379S	P	-	1	0	MAGI2	77813265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.693000	0.91896	0.655000	0.94253	CCT		0.423	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		79	371	0	0	0	1	0	79	371					A	77975329	G	A	77975329	3	1	79	1	0	0	0	0	1	0	0	0	9232	1174	41	2	3292	2	MAGI2	7	77975329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2073	77975329	81163334	8479	18796											
MAGI2	9863	broad.mit.edu	37	chr7	78130968	78130968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggtctggttcctcattGtcttcaggtttagttggctt	11	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000419488.1_Silent_p.D297D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	297					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCTCATTGTCTTCAGGTT	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(889-891)gaC>gaT		membrane associated guanylate kinase, WW and PDZ domain containing 2							343	269	294					7																	78130968		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78130968G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.891C>T	7.37:g.78130968G>A						MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000522391.1_Silent_p.D297D	p.D297D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			5	1144	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	297					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.891C>T	CCDS5594.1																																																																																				0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		93	430	0	0	0	1	0	93	430					A	78130968	G	A	78130968	2	1	79	1	0	0	0	0	0	0	0	1	9232	1368	48	2		2	MAGI2	7	78130968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155639	78130968	81007695	8480	18797											
GNAI1	2770	broad.mit.edu	37	chr7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcaaaaagagccctcTcactatatgctatccagaat	4	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCCCTCTCACTATATGC	0.333																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(847-849)cTc>cAc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							65	73	70					7																	79842159		2203	4292	6495	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842159T>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.848T>A	7.37:g.79842159T>A	ENSP00000343027:p.Leu283His					GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	p.L283H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1221	+			283					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.848T>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750899	0.89753	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90620	-2.7;-2.7	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99160	1.0861	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	283	P63096	GNAI1_HUMAN	H	283;231	ENSP00000343027:L283H;ENSP00000410572:L231H	.	L	+	2	0	GNAI1	79680095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	CTC		0.333	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		68	254	0	0	0	1	0	68	254					A	79842159	T	A	79842159	3	1	79	1	0	0	0	0	1	0	0	0	6533	1551	54	5	874	5	GNAI1	7	79842159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1711191	79842159	79296504	8481	18798											
SEMA3C	10512	broad.mit.edu	37	chr7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatttgtccgtcacaacaGccaccatttctgaatctaaa	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	668					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGTCACAACAGCCACCATTTC	0.483																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2002-2004)gCt>gTt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							86	79	82					7																	80374463		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374463G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2003C>T	7.37:g.80374463G>A	ENSP00000265361:p.Ala668Val					SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	p.A668V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			18	2564	-			668					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.2003C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006985	0.54361	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.56	5.56	0.83823	.	0.202241	0.52532	D	0.000063	T	0.21347	0.0514	N	0.19112	0.55	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.02942	-1.1091	10	0.51188	T	0.08	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	686;668	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	668;668;686	ENSP00000265361:A668V;ENSP00000411193:A668V;ENSP00000445649:A686V	ENSP00000265361:A668V	A	-	2	0	SEMA3C	80212399	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.594000	0.67557	2.636000	0.89361	0.650000	0.86243	GCT		0.483	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		78	332	0	0	0	1	0	78	332					A	80374463	G	A	80374463	3	1	79	1	0	0	0	0	1	0	0	0	14076	971	34	2	256	2	SEMA3C	7	80374463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532304	80374463	78764200	8482	18799											
CACNA2D1	781	broad.mit.edu	37	chr7	81964505	81964505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatatccctggctgcaatTtctaccagctggcgtgcatt	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000356253.5	-	3	495	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356860.3_Silent_p.E80E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGGCTGCAATTTCTACCAGCT	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(238-240)gaA>gaG		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						186	193	190					7																	81964505		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81964505T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.240A>G	7.37:g.81964505T>C						CACNA2D1_ENST00000356253.5_Silent_p.E80E|CACNA2D1_ENST00000423588.1_Silent_p.E80E	p.E80E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			3	578	-			80					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.240A>G																																																																																					0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				213	883	0	0	0	1	0	213	883					C	81964505	T	C	81964505	2	2	79	1	0	0	0	0	0	0	0	1	2555	1838	64	4		4	CACNA2D1	7	81964505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1590042	81964505	77174158	8483	18800											
PCLO	27445	broad.mit.edu	37	chr7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcttctgcttttgataacaGatggctttggggactgctgg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						TTTGATAACAGATGGCTTTGG	0.418																																						ENST00000423517.2																			0				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						c.(14548-14550)tCt>tTt		piccolo presynaptic cytomatrix protein							106	101	103					7																	82453599		1979	4163	6142	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.chr7:82453599G>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.14549C>T	7.37:g.82453599G>A	ENSP00000334319:p.Ser4850Phe					PCLO_ENST00000333891.8_Missense_Mutation_p.S4850F|PCLO_ENST00000426442.2_5'UTR	p.S4850F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			19	14886	-			4712						Missense_Mutation	SNP	ENST00000333891.9	37	c.14549C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20069	2.15;2.1	5.48	5.48	0.80851	.	.	.	.	.	T	0.39091	0.1065	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.18618	-1.0331	9	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	4850;4850;271;338	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4850;4850;337	ENSP00000334319:S4850F;ENSP00000388393:S4850F	ENSP00000334319:S4850F	S	-	2	0	PCLO	82291535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.583000	0.87209	0.591000	0.81541	TCT		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	109	0	0	0	1	0	30	109					A	82453599	G	A	82453599	3	1	79	1	0	0	0	0	1	0	0	0	11625	942	33	2	924	2	PCLO	7	82453599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	489094	82453599	76685064	8484	18801											
PCLO	27445	broad.mit.edu	37	chr7	82453619	82453619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctttggggactgctgGctgctctgactggaatgaga	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000423517.2_Silent_p.S4843S|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GGGACTGCTGGCTGCTCTGAC	0.423																																						ENST00000423517.2																			0				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						c.(14527-14529)agC>agT		piccolo presynaptic cytomatrix protein							100	99	99					7																	82453619		2001	4184	6185	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82453619G>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.14529C>T	7.37:g.82453619G>A						PCLO_ENST00000333891.8_Silent_p.S4843S|PCLO_ENST00000426442.2_5'UTR	p.S4843S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			19	14866	-			4705						Silent	SNP	ENST00000333891.9	37	c.14529C>T	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		36	119	0	0	0	1	0	36	119					A	82453619	G	A	82453619	2	1	79	1	0	0	0	0	0	0	0	1	11625	1194	42	2		2	PCLO	7	82453619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	82453619	76685044	8485	18802											
PCLO	27445	broad.mit.edu	37	chr7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccaaactgatccctgGtgtctgcagatattggtggc	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						CTGATCCCTGGTGTCTGCAGA	0.532																																						ENST00000423517.2																			0				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						c.(13162-13164)aCc>aAc		piccolo presynaptic cytomatrix protein							87	89	88					7																	82544139		2047	4194	6241	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.chr7:82544139G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13163C>A	7.37:g.82544139G>T	ENSP00000334319:p.Thr4388Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.T4388N|PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N	p.T4388N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13500	-			4319						Missense_Mutation	SNP	ENST00000333891.9	37	c.13163C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347387	0.41599	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.75	5.75	0.90469	.	.	.	.	.	T	0.42426	0.1202	M	0.65498	2.005	0.50039	D	0.999844	D;D;D	0.71674	0.988;0.998;0.998	P;D;D	0.66351	0.779;0.943;0.943	T	0.17561	-1.0365	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4319;4388;4388	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4388;4388;1108	ENSP00000334319:T4388N;ENSP00000388393:T4388N	ENSP00000334319:T4388N	T	-	2	0	PCLO	82382075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.725000	0.93324	0.655000	0.94253	ACC		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		43	180	1	0	4.44401e-20	1	4.96976e-20	43	180					T	82544139	G	T	82544139	3	4	79	1	0	0	0	0	1	0	0	0	11625	1261	44	3	2358	3	PCLO	7	82544139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90520	82544139	76594524	8486	18803											
PCLO	27445	broad.mit.edu	37	chr7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccatgctgactttctattCgggttggtcttgtgctactc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						ACTTTCTATTCGGGTTGGTCT	0.458																																						ENST00000423517.2																			0				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						c.(11536-11538)cGa>cAa		piccolo presynaptic cytomatrix protein																																				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.chr7:82545765C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11537G>A	7.37:g.82545765C>T	ENSP00000334319:p.Arg3846Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.R3846Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q	p.R3846Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11874	-			3777			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11537G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987688	0.35036	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.44074	0.1276	M	0.65498	2.005	0.48571	D	0.999673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.92;0.99;0.99	T	0.22208	-1.0223	9	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	3777;3846;3846	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3846;3846;566	ENSP00000334319:R3846Q;ENSP00000388393:R3846Q	ENSP00000334319:R3846Q	R	-	2	0	PCLO	82383701	1.000000	0.71417	0.955000	0.39395	0.309000	0.27889	4.800000	0.62524	2.758000	0.94735	0.563000	0.77884	CGA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		179	737	0	0	0	1	0	179	737					T	82545765	C	T	82545765	3	4	79	1	0	0	0	0	1	0	0	0	11625	884	31	1	3984	1	PCLO	7	82545765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1626	82545765	76592898	8487	18804											
PCLO	27445	broad.mit.edu	37	chr7	82583261	82583261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatcaaacacggtttcGgataagctactttttgttcg	11	7	1	1	rs181143686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						ACACGGTTTCGGATAAGCTAC	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11761	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				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						c.(7006-7008)tcC>tcT		piccolo presynaptic cytomatrix protein		G	,	2,3710		0,2,1854	103	104	104		7008,7008	-5.3	0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG		0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583261G>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.7008C>T	7.37:g.82583261G>A						PCLO_ENST00000333891.8_Silent_p.S2336S	p.S2336S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7345	-			2267			Poly-Pro.|Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.7008C>T	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		105	549	0	0	0	1	0	105	549					A	82583261	G	A	82583261	2	1	79	1	0	0	0	0	0	0	0	1	11625	1103	39	1		1	PCLO	7	82583261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37496	82583261	76555402	8488	18805											
SEMA3A	10371	broad.mit.edu	37	chr7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtggtgcccaagagttCggaagatagcaaagtctcgc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	203	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(607-609)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							217	194	202					7																	83675699		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83675699C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.608G>A	7.37:g.83675699C>T	ENSP00000265362:p.Arg203Gln					SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			6	922	-			203			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.608G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818528	0.96982	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.59224	0.28;0.28	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.85099	2.735	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.81571	-0.0872	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	203	Q14563	SEM3A_HUMAN	Q	203	ENSP00000265362:R203Q;ENSP00000415260:R203Q	ENSP00000265362:R203Q	R	-	2	0	SEMA3A	83513635	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	CGA		0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		134	571	0	0	0	1	0	134	571					T	83675699	C	T	83675699	3	4	79	1	0	0	0	0	1	0	0	0	14074	884	31	1	1755	1	SEMA3A	7	83675699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092438	83675699	75462964	8489	18806											
SEMA3D	223117	broad.mit.edu	37	chr7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgtgatgtcttcgatttCgtttcttcttcatttcctgc	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - Missense(1)	p.R760Q(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2278-2280)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							180	146	158					7																	84628811		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628811C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln					SEMA3D_ENST00000484038.1_5'UTR	p.R760Q	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2322	-			760			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2279G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		98	358	0	0	0	1	0	98	358					T	84628811	C	T	84628811	3	4	79	1	0	0	0	0	1	0	0	0	14077	884	31	1	58	1	SEMA3D	7	84628811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	953112	84628811	74509852	8490	18807											
SEMA3D	223117	broad.mit.edu	37	chr7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgcaagctttcccatAagtgtcgcatctgtgcaagg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	537	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1609-1611)Tat>Cat		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							149	137	141					7																	84644469		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644469A>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1609T>C	7.37:g.84644469A>G	ENSP00000284136:p.Tyr537His					SEMA3D_ENST00000484038.1_5'UTR	p.Y537H	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			14	1652	-			537			PSI.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1609T>C	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686904	0.88639	.	.	ENSG00000153993	ENST00000284136	T	0.43294	0.95	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67484	-0.5659	10	0.52906	T	0.07	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	537	O95025	SEM3D_HUMAN	H	537	ENSP00000284136:Y537H	ENSP00000284136:Y537H	Y	-	1	0	SEMA3D	84482405	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAT		0.463	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		96	376	0	0	0	1	0	96	376					G	84644469	A	G	84644469	3	3	79	1	0	0	0	0	1	0	0	0	14077	362	13	4	740	4	SEMA3D	7	84644469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15658	84644469	74494194	8491	18808											
SEMA3D	223117	broad.mit.edu	37	chr7	84651710	84651710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctagttttagcttacctgTtccaagaaacattacatcgt	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	ENST00000284136.6	-	11	1454	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTACCTGTTCCAAGAAAC	0.328																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1411-1413)Aca>Gca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							179	165	170					7																	84651710		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651710T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1411A>G	7.37:g.84651710T>C	ENSP00000284136:p.Thr471Ala					SEMA3D_ENST00000484038.1_5'UTR	p.T471A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			11	1454	-			471			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1411A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094341	0.76870	.	.	ENSG00000153993	ENST00000284136	T	0.33216	1.42	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74022	-0.3798	10	0.87932	D	0	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	471	O95025	SEM3D_HUMAN	A	471	ENSP00000284136:T471A	ENSP00000284136:T471A	T	-	1	0	SEMA3D	84489646	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	ACA		0.328	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		163	640	0	0	0	1	0	163	640					C	84651710	T	C	84651710	3	2	79	1	0	0	0	0	1	0	0	0	14077	1725	60	4	950	4	SEMA3D	7	84651710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7241	84651710	74486953	8492	18809											
SEMA3D	223117	broad.mit.edu	37	chr7	84651735	84651735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacattacatcgtactgGccatcttctgcaatgacatg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	462	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1384-1386)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							245	218	227					7																	84651735		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651735G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1386C>T	7.37:g.84651735G>A						SEMA3D_ENST00000484038.1_5'UTR	p.G462G	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			11	1429	-			462			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1386C>T	CCDS34676.1																																																																																				0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		201	776	0	0	0	1	0	201	776					A	84651735	G	A	84651735	2	1	79	1	0	0	0	0	0	0	0	1	14077	1190	42	2		2	SEMA3D	7	84651735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	84651735	74486928	8493	18810											
SEMA3D	223117	broad.mit.edu	37	chr7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actttccttatgagcatatgGaccattaaaaactgctctga	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1114-1116)Cca>Aca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							128	111	117					7																	84666282		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84666282G>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1114C>A	7.37:g.84666282G>T	ENSP00000284136:p.Pro372Thr					SEMA3D_ENST00000484038.1_5'UTR	p.P372T	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			10	1157	-			372			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1114C>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067582	0.76301	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046255	0.85682	D	0.000000	T	0.62600	0.2441	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69760	-0.5058	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	372	O95025	SEM3D_HUMAN	T	372	ENSP00000284136:P372T	ENSP00000284136:P372T	P	-	1	0	SEMA3D	84504218	1.000000	0.71417	0.947000	0.38551	0.396000	0.30629	9.773000	0.98989	2.788000	0.95919	0.585000	0.79938	CCA		0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		93	360	1	0	1.07111e-62	1	1.35032e-62	93	360					T	84666282	G	T	84666282	3	4	79	1	0	0	0	0	1	0	0	0	14077	1174	41	3	1251	3	SEMA3D	7	84666282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14547	84666282	74472381	8494	18811											
GRM3	2913	broad.mit.edu	37	chr7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggaagacgcctgggCcattggcccagtcaccattg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	577					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACGCCTGGGCCATTGGCCCA	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1729-1731)gCc>gTc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						102	98	100					7																	86468560		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86468560C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1730C>T	7.37:g.86468560C>T	ENSP00000355316:p.Ala577Val					GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron	p.A577V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2829	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		577					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1730C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736591	0.89482	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89123	-2.47;-2.41;-2.25	6.16	6.16	0.99307	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.974;0.994;0.997	P;D;D	0.68943	0.677;0.961;0.96	D	0.95375	0.8468	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	169;449;577	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	577;169;449	ENSP00000355316:A577V;ENSP00000444064:A169V;ENSP00000441407:A449V	ENSP00000355316:A577V	A	+	2	0	GRM3	86306496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCC		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			75	317	0	0	0	1	0	75	317					T	86468560	C	T	86468560	3	4	79	1	0	0	0	0	1	0	0	0	6828	739	26	2	1740	2	GRM3	7	86468560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1802278	86468560	72670103	8495	18812											
GRM3	2913	broad.mit.edu	37	chr7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattccagcatgttgatctCtcttacctacgatgtgatcc	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	740					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATGTTGATCTCTCTTACCTAC	0.468																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2218-2220)tCt>tTt		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						127	109	115					7																	86469049		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86469049C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2219C>T	7.37:g.86469049C>T	ENSP00000355316:p.Ser740Phe					GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron	p.S740F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3318	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		740					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2219C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964456	0.74131	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88354	-2.37;-2.37;-2.37	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89287	3.02	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	0.95901	0.8915	10	0.72032	D	0.01	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	332;612;740	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	F	740;332;612	ENSP00000355316:S740F;ENSP00000444064:S332F;ENSP00000441407:S612F	ENSP00000355316:S740F	S	+	2	0	GRM3	86306985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	TCT		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			30	321	0	0	0	1	0	30	321					T	86469049	C	T	86469049	3	4	79	1	0	0	0	0	1	0	0	0	6828	913	32	2	2229	2	GRM3	7	86469049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	86469049	72669614	8496	18813											
KIAA1324L	222223	broad.mit.edu	37	chr7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggattacacctcattttcAcagcagttgatcggccatta	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000450689.2	-	18	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	835						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTCATTTTCACAGCAGTTGA	0.343																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2503-2505)gTg>gCg		KIAA1324-like							121	109	113					7																	86537040		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86537040A>G	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2504T>C	7.37:g.86537040A>G	ENSP00000413445:p.Val835Ala					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	p.V835A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			18	2689	-	Esophageal squamous(14;0.0058)		835					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2504T>C	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952311	0.92660	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.97	5.97	0.96955	Mannose-6-phosphate receptor, binding (1);	0.113441	0.64402	D	0.000010	T	0.19805	0.0476	M	0.78801	2.425	0.80722	D	1	P;P;P	0.52170	0.951;0.925;0.925	P;B;B	0.55112	0.769;0.435;0.435	T	0.00402	-1.1762	10	0.40728	T	0.16	.	13.8398	0.63432	1.0:0.0:0.0:0.0	.	835;595;668	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	A	835;595;764;668	ENSP00000413445:V835A;ENSP00000297222:V595A;ENSP00000397377:V764A;ENSP00000402390:V668A	ENSP00000297222:V595A	V	-	2	0	KIAA1324L	86374976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.130000	0.89598	2.289000	0.77006	0.459000	0.35465	GTG		0.343	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		66	303	0	0	0	1	0	66	303					G	86537040	A	G	86537040	3	3	79	1	0	0	0	0	1	0	0	0	8254	159	6	4	605	4	KIAA1324L	7	86537040	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67991	86537040	72601623	8497	18814											
DMTF1	9988	broad.mit.edu	37	chr7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcattcttcactgccctcaGaatggtaggagaacttgctg	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(103-105)caG>caT		cyclin D binding myb-like transcription factor 1							74	58	64					7																	86794362		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86794362G>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.105G>T	7.37:g.86794362G>T	ENSP00000378193:p.Gln35His					DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H	p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			5	668	+	Esophageal squamous(14;0.0058)		35			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.105G>T	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991491	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.8;0.69	5.29	4.4	0.53042	.	0.224659	0.46145	N	0.000314	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.51220	-0.8733	10	0.62326	D	0.03	-2.0242	5.0045	0.14280	0.1599:0.0:0.6568:0.1833	.	35	Q9Y222	DMTF1_HUMAN	H	35	ENSP00000332171:Q35H;ENSP00000402627:Q35H;ENSP00000378193:Q35H	ENSP00000332171:Q35H	Q	+	3	2	DMTF1	86632298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	1.354000	0.45846	0.655000	0.94253	CAG		0.438	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		36	112	1	0	1.04594e-18	1	1.16214e-18	36	112					T	86794362	G	T	86794362	3	4	79	1	0	0	0	0	1	0	0	0	4608	933	33	3	107	3	DMTF1	7	86794362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257322	86794362	72344301	8498	18815											
DMTF1	9988	broad.mit.edu	37	chr7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctcttctagccccatgGcagcattgcagattccagtc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000394703.5	+	15	1938	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	459	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(577-579)Gca>Aca		cyclin D binding myb-like transcription factor 1							169	162	164					7																	86817581		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817581G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1375G>A	7.37:g.86817581G>A	ENSP00000378193:p.Ala459Thr					DMTF1_ENST00000394703.5_Missense_Mutation_p.A459T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000413276.2_Intron	p.A193T			Q9Y222	DMTF1_HUMAN			13	2369	+	Esophageal squamous(14;0.0058)		459			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.577G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253310	0.10185	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.44881	0.94;0.94;0.94;0.91	5.57	-3.61	0.04556	.	0.626890	0.18356	N	0.143710	T	0.17280	0.0415	N	0.03608	-0.345	0.41702	D	0.989404	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09590	T	0.72	-0.0915	16.8454	0.85979	0.3261:0.0:0.6739:0.0	.	459	Q9Y222	DMTF1_HUMAN	T	459;371;459;193	ENSP00000332171:A459T;ENSP00000412532:A371T;ENSP00000378193:A459T;ENSP00000415910:A193T	ENSP00000332171:A459T	A	+	1	0	DMTF1	86655517	0.995000	0.38212	0.961000	0.40146	0.950000	0.60333	0.446000	0.21694	-0.838000	0.04218	-0.345000	0.07892	GCA		0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		163	591	0	0	0	1	0	163	591					A	86817581	G	A	86817581	3	1	79	1	0	0	0	0	1	0	0	0	4608	1203	42	2	1417	2	DMTF1	7	86817581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23219	86817581	72321082	8499	18816											
DMTF1	9988	broad.mit.edu	37	chr7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcccaagcagaactgacaGtcgatagtgatattcagtca	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000394703.5	+	18	2334	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	591	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(973-975)Gtc>Atc		cyclin D binding myb-like transcription factor 1							163	136	145					7																	86823161		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86823161G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1771G>A	7.37:g.86823161G>A	ENSP00000378193:p.Val591Ile					DMTF1_ENST00000394703.5_Missense_Mutation_p.V591I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I	p.V325I			Q9Y222	DMTF1_HUMAN			16	2765	+	Esophageal squamous(14;0.0058)		591			HTH myb-type.|Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.973G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328568	0.60743	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.58358	0.48;0.34;0.5;0.48;0.49	6.03	5.16	0.70880	.	0.144170	0.44902	N	0.000409	T	0.40347	0.1113	L	0.27053	0.805	0.43118	D	0.994835	B	0.16603	0.018	B	0.13407	0.009	T	0.19289	-1.0310	10	0.27785	T	0.31	-0.0123	14.2613	0.66088	0.0706:0.0:0.9294:0.0	.	591	Q9Y222	DMTF1_HUMAN	I	591;521;503;591;325	ENSP00000332171:V591I;ENSP00000402627:V521I;ENSP00000412532:V503I;ENSP00000378193:V591I;ENSP00000415910:V325I	ENSP00000332171:V591I	V	+	1	0	DMTF1	86661097	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.060000	0.57477	1.558000	0.49541	0.655000	0.94253	GTC		0.448	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		93	445	0	0	0	1	0	93	445					A	86823161	G	A	86823161	3	1	79	1	0	0	0	0	1	0	0	0	4608	1029	36	2	1825	2	DMTF1	7	86823161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5580	86823161	72315502	8500	18817											
CROT	54677	broad.mit.edu	37	chr7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgccatagtgaacctgatgGacctgggattgcagcattaa	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000331536.3	+	8	886	c.701G>T	c.(700-702)gGa>gTa	p.G234V	CROT_ENST00000442291.1_Missense_Mutation_p.G234V|CROT_ENST00000419147.2_Missense_Mutation_p.G262V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	234					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(700-702)gGa>gTa		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						144	132	136					7																	87004992		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87004992G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.701G>T	7.37:g.87004992G>T	ENSP00000331981:p.Gly234Val					CROT_ENST00000442291.1_Missense_Mutation_p.G234V|CROT_ENST00000419147.2_Missense_Mutation_p.G262V	p.G234V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			8	886	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		234					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.701G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735886	0.89482	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90004	-2.6;-2.6;-2.6	6.02	6.02	0.97574	.	0.046628	0.85682	D	0.000000	D	0.95642	0.8583	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.983	D	0.94444	0.7661	10	0.34782	T	0.22	-26.1183	18.7212	0.91694	0.0:0.0:1.0:0.0	.	262;234	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	262;234;234	ENSP00000413575:G262V;ENSP00000331981:G234V;ENSP00000411983:G234V	ENSP00000331981:G234V	G	+	2	0	CROT	86842928	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.890000	0.87313	2.865000	0.98341	0.655000	0.94253	GGA		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		42	381	1	0	3.76604e-16	1	4.1305e-16	42	381					T	87004992	G	T	87004992	3	4	79	1	0	0	0	0	1	0	0	0	3903	1174	41	3	811	3	CROT	7	87004992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181831	87004992	72133671	8501	18818											
CROT	54677	broad.mit.edu	37	chr7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaatgaaggaagatgGaaggtatgtttgaataaata	11	1	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000331536.3	+	11	1244	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*|CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	353					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGGAAGATGGAAGGTATGTT	0.313																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1057-1059)tgG>tgA		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						94	91	92					7																	87011306		2203	4297	6500	SO:0001587	stop_gained	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011306G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1059G>A	7.37:g.87011306G>A	ENSP00000331981:p.Trp353*					CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*|CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*	p.W353*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			11	1244	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		353					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	37	c.1059G>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062868	0.97246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.8503	19.4212	0.94721	0.0:0.0:1.0:0.0	.	.	.	.	X	381;353;353	.	ENSP00000331981:W353X	W	+	3	0	CROT	86849242	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.160000	0.94734	2.674000	0.91012	0.467000	0.42956	TGG		0.313	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		55	223	0	0	0	1	0	55	223					A	87011306	G	A	87011306	4	1	79	1	0	0	0	0	0	1	0	0	3903	1183	41	2	1181	2	CROT	7	87011306	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6314	87011306	72127357	8502	18819											
ABCB4	5244	broad.mit.edu	37	chr7	87056075	87056075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacttacaagtccatcGgtttccacatcaaggctctt	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	685					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAAGTCCATCGGTTTCCACAT	0.353																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2053-2055)acC>acT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							95	94	94					7																	87056075		2202	4300	6502	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87056075G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2055C>T	7.37:g.87056075G>A						ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T	p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			16	2166	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		685					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.2055C>T	CCDS5606.1																																																																																				0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		76	260	0	0	0	1	0	76	260					A	87056075	G	A	87056075	2	1	79	1	0	0	0	0	0	0	0	1	43	1103	39	1		1	ABCB4	7	87056075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44769	87056075	72082588	8503	18820											
ABCB1	5243	broad.mit.edu	37	chr7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccaaggcatcaatttcaCttttggattcatcagctgca	6	10	4	0	rs528939709	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	646					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)			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)	ATCAATTTCACTTTTGGATTC	0.363													C|||	4	0.000798722	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0041					ENST00000265724.3																			0				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						c.(1936-1938)aGt>aTt		ATP-binding cassette, sub-family B (MDR/TAP), 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)						105	96	99					7																	87174266		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.chr7:87174266C>A	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.1937G>T	7.37:g.87174266C>A	ENSP00000265724:p.Ser646Ile					ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	p.S646I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			17	2354	-	Esophageal squamous(14;0.00164)		646					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1937G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804349	0.31869	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.32;-2.34	5.75	1.3	0.21679	.	2.226270	0.01211	N	0.007857	T	0.81791	0.4897	L	0.43923	1.385	0.09310	N	1	B;B	0.27068	0.053;0.167	B;B	0.21546	0.035;0.025	T	0.63712	-0.6575	10	0.38643	T	0.18	-0.0858	3.9517	0.09372	0.17:0.4676:0.0:0.3624	.	582;646	B5AK60;P08183	.;MDR1_HUMAN	I	427;646;582	ENSP00000265724:S646I;ENSP00000444095:S582I	ENSP00000265724:S646I	S	-	2	0	ABCB1	87012202	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.124000	0.03260	0.341000	0.23771	0.650000	0.86243	AGT		0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		51	246	1	0	3.16986e-14	1	3.43948e-14	51	246					A	87174266	C	A	87174266	3	1	79	1	0	0	0	0	1	0	0	0	40	565	20	3	1957	3	ABCB1	7	87174266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118191	87174266	71964397	8504	18821											
ABCB1	5243	broad.mit.edu	37	chr7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgactgaaagaacattccAattttgtcaccaattccttc	4	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	190	ABC transmembrane type-1 1. {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)			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)	AGAACATTCCAATTTTGTCAC	0.368																																						ENST00000265724.3																			0				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						c.(568-570)atT>atG		ATP-binding cassette, sub-family B (MDR/TAP), 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)						146	136	140					7																	87195518		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.chr7:87195518A>C	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.570T>G	7.37:g.87195518A>C	ENSP00000265724:p.Ile190Met					ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	p.I190M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			8	987	-	Esophageal squamous(14;0.00164)		190			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.570T>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985152	0.35036	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91068	-2.78;-2.78	5.86	-2.1	0.07210	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.151959	0.64402	D	0.000017	D	0.90215	0.6941	L	0.39245	1.2	0.38962	D	0.958578	B;B	0.30211	0.273;0.198	B;P	0.54499	0.356;0.754	T	0.82559	-0.0397	10	0.35671	T	0.21	-10.6385	7.6401	0.28288	0.4865:0.1195:0.3941:0.0	.	126;190	B5AK60;P08183	.;MDR1_HUMAN	M	190;126	ENSP00000265724:I190M;ENSP00000444095:I126M	ENSP00000265724:I190M	I	-	3	3	ABCB1	87033454	0.981000	0.34729	0.992000	0.48379	0.990000	0.78478	0.350000	0.20079	-0.349000	0.08274	-0.290000	0.09829	ATT		0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		86	404	0	0	0	1	0	86	404					C	87195518	A	C	87195518	3	2	79	1	0	0	0	0	1	0	0	0	40	126	5	4	3360	4	ABCB1	7	87195518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21252	87195518	71943145	8505	18822											
ADAM22	53616	broad.mit.edu	37	chr7	87780610	87780610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcaaaaccagagatagAcaatgcaaatacatttgggg	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000265727.7	+	20	1735	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000398204.4_Silent_p.R552R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGAGATAGACAATGCAAAT	0.403																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1654-1656)agA>agG		ADAM metallopeptidase domain 22							127	120	122					7																	87780610		1896	4104	6000	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87780610A>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1656A>G	7.37:g.87780610A>G						ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000265727.7_Silent_p.R552R	p.R552R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	1979	+	Esophageal squamous(14;0.00202)		552			Cys-rich.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.1656A>G	CCDS47637.1																																																																																				0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		62	282	0	0	0	1	0	62	282					G	87780610	A	G	87780610	2	3	79	1	0	0	0	0	0	0	0	1	244	272	10	4		4	ADAM22	7	87780610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	585092	87780610	71358053	8506	18823											
SRI	6717	broad.mit.edu	37	chr7	87838718	87838718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgatctttccattggtGctgtatcgttttgcaattga	10	6	1	2	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000394641.3_Silent_p.S134S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448													G|||	4	0.000798722	0.003	0.0	5008	,	,		14263	0.0		0.0	False		,,,				2504	0.0					ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(445-447)agC>agT		sorcin		G	,	4,4402	8.1+/-20.4	0,4,2199	191	159	170		447,402	4.1	1	7	dbSNP_134	170	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SRI	NM_003130.2,NM_198901.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	149/199,134/184	87838718	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87838718G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.447C>T	7.37:g.87838718G>A						SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000431660.1_Silent_p.S134S	p.S149S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			6	499	-	Esophageal squamous(14;0.00202)		149			EF-hand 4.		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.447C>T	CCDS5612.1																																																																																				0.448	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		70	242	0	0	0	1	0	70	242					A	87838718	G	A	87838718	2	1	79	1	0	0	0	0	0	0	0	1	15201	1310	46	2		2	SRI	7	87838718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58108	87838718	71299945	8507	18824											
STEAP4	79689	broad.mit.edu	37	chr7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacacagcacagcagacaaAtagaaggggaacctccacat	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	205					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(613-615)taT>taG		STEAP family member 4							85	81	82					7																	87912325		1875	4106	5981	SO:0001587	stop_gained	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912325A>C	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.615T>G	7.37:g.87912325A>C	ENSP00000369419:p.Tyr205*					AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA	p.Y205*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	716	-	Esophageal squamous(14;0.00802)		205					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	37	c.615T>G	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205892	0.79127	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	.	.	.	6.08	-2.39	0.06602	.	0.397244	0.30800	N	0.008860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	4.0244	0.09680	0.4369:0.1028:0.3604:0.0999	.	.	.	.	X	205	.	ENSP00000369419:Y205X	Y	-	3	2	STEAP4	87750261	0.001000	0.12720	0.996000	0.52242	0.971000	0.66376	0.360000	0.20250	-0.059000	0.13154	0.482000	0.46254	TAT		0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		63	300	0	0	0	1	0	63	300					C	87912325	A	C	87912325	4	2	79	1	0	0	0	0	0	1	0	0	15332	108	4	4	776	4	STEAP4	7	87912325	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73607	87912325	71226338	8508	18825											
ZNF804B	219578	broad.mit.edu	37	chr7	88963589	88963589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagacttgtaaaagaagcAtgtacccataatgtggcatc	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431							metal ion binding (GO:0046872)	p.A431A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388										HNSCC(36;0.09)																												ENST00000333190.4																			1	Substitution - coding silent(1)	p.A431A(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1291-1293)gcA>gcG		zinc finger protein 804B							64	65	65					7																	88963589		2201	4299	6500	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963589A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1293A>G	7.37:g.88963589A>G		HNSCC(36;0.09)					p.A431A	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1902	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		431					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1293A>G	CCDS5613.1																																																																																				0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		69	288	0	0	0	1	0	69	288					G	88963589	A	G	88963589	2	3	79	1	0	0	0	0	0	0	0	1	18224	204	8	4		4	ZNF804B	7	88963589	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051264	88963589	70175074	8509	18826											
STEAP2	261729	broad.mit.edu	37	chr7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaatttatggatggaaaCgagcttttgaggaagagtac	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000287908.3	+	5	1642	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	417					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGATGGAAACGAGCTTTTGA	0.363																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1249-1251)Cga>Tga		STEAP family member 2, metalloreductase							113	106	108					7																	89861714		2203	4300	6503	SO:0001587	stop_gained	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861714C>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1249C>T	7.37:g.89861714C>T	ENSP00000287908:p.Arg417*					STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron	p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			5	1642	+	all_hematologic(106;0.112)		417					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	ENST00000287908.3	37	c.1249C>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249134	0.97412	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394624;ENST00000394621;ENST00000394629	.	.	.	5.77	3.79	0.43588	.	0.059090	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0958	13.5431	0.61686	0.3917:0.6083:0.0:0.0	.	.	.	.	X	417	.	ENSP00000287908:R417X	R	+	1	2	STEAP2	89699650	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.770000	0.55310	1.433000	0.47394	0.644000	0.83932	CGA		0.363	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		28	138	0	0	0	1	0	28	138					T	89861714	C	T	89861714	4	4	79	1	0	0	0	0	0	1	0	0	15330	528	19	1	1263	1	STEAP2	7	89861714	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898125	89861714	69276949	8510	18827											
STEAP2	261729	broad.mit.edu	37	chr7	89861731	89861731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgagcttttgaggaagaGtactacagattttatacacc	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000287908.3	+	5	1659	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	422					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTGAGGAAGAGTACTACAGAT	0.388																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1264-1266)gaG>gaA		STEAP family member 2, metalloreductase							125	120	122					7																	89861731		2203	4300	6503	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861731G>A	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1266G>A	7.37:g.89861731G>A						STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron	p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			5	1659	+	all_hematologic(106;0.112)		422					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1266G>A	CCDS5615.1																																																																																				0.388	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		10	171	0	0	0	1	0	10	171					A	89861731	G	A	89861731	2	1	79	1	0	0	0	0	0	0	0	1	15330	1020	36	2		2	STEAP2	7	89861731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	89861731	69276932	8511	18828											
C7orf63	79846	broad.mit.edu	37	chr7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatgttttcataccaggaAtctttaaaaatataataagc	4	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L|C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATACCAGGAATCTTTAAAAA	0.299																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1540-1542)Atc>Ctc		chromosome 7 open reading frame 63							68	67	67					7																	89915597		1787	4058	5845	SO:0001583	missense	79846						binding	g.chr7:89915597A>C																												ENST00000389297.4:c.1540A>C	7.37:g.89915597A>C	ENSP00000373948:p.Ile514Leu					C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L|C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L	p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			14	1791	+			514					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1540A>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491633	0.44249	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.93	2.46	0.29980	Armadillo-type fold (1);	0.101637	0.64402	D	0.000004	T	0.31327	0.0793	M	0.75264	2.295	0.38967	D	0.958667	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.15378	-1.0439	10	0.66056	D	0.02	-0.162	7.2354	0.26067	0.7758:0.1445:0.0797:0.0	.	496;514;514	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	L	514;514;496;397;97	ENSP00000373948:I514L;ENSP00000321753:I514L;ENSP00000419549:I496L;ENSP00000392365:I397L;ENSP00000391571:I97L	ENSP00000321753:I514L	I	+	1	0	C7orf63	89753533	1.000000	0.71417	0.914000	0.36105	0.990000	0.78478	3.217000	0.51184	0.329000	0.23460	0.460000	0.39030	ATC		0.299	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			24	231	0	0	0	1	0	24	231					C	89915597	A	C	89915597	3	2	79	1	0	0	0	0	1	0	0	0	2416	101	4	4	1594	4	C7orf63	7	89915597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53866	89915597	69223066	8512	18829											
GTPBP10	85865	broad.mit.edu	37	chr7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaggggaggatccggtGgaatgggttatcctcgttta	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTA	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(85-87)Gga>Aga		GTP-binding protein 10 (putative)							170	166	167					7																	89982181		2203	4300	6503	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89982181G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.85G>A	7.37:g.89982181G>A	ENSP00000222511:p.Gly29Arg		OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			2	151	+			29					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.85G>A	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592124	0.66219	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.07	5.19	0.71726	GTP1/OBG subdomain (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	H	0.98918	4.37	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;0.999;1.0	D	0.92475	0.5988	9	.	.	.	-7.0466	17.414	0.87494	0.0:0.1247:0.8753:0.0	.	29;29;20;46	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	R	20;46;29;29;29	ENSP00000405697:G20R;ENSP00000389510:G46R;ENSP00000257659:G29R;ENSP00000222511:G29R;ENSP00000416596:G29R	.	G	+	1	0	GTPBP10	89820117	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.145000	0.94634	1.565000	0.49641	-0.283000	0.09986	GGA		0.393	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		10	294	0	0	0	1	0	10	294					A	89982181	G	A	89982181	3	1	79	1	0	0	0	0	1	0	0	0	6909	1349	47	2	91	2	GTPBP10	7	89982181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66584	89982181	69156482	8513	18830											
CDK14	5218	broad.mit.edu	37	chr7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggctcagctatgtgAaccatgcagaggacctggcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000380050.3	+	13	1299	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	CDK14_ENST00000406263.1_Missense_Mutation_p.N344D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(1030-1032)Aac>Gac		cyclin-dependent kinase 14							134	142	139					7																	90741870		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90741870A>G		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1168A>G	7.37:g.90741870A>G	ENSP00000369390:p.Asn390Asp					CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D|CDK14_ENST00000380050.3_Missense_Mutation_p.N390D	p.N344D			O94921	CDK14_HUMAN			12	1472	+			390			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.1030A>G		.	.	.	.	.	.	.	.	.	.	A	9.628	1.135592	0.21123	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.97	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057435	0.64402	D	0.000003	T	0.39989	0.1099	N	0.11724	0.165	0.39852	D	0.973252	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.001;0.007	T	0.21965	-1.0230	10	0.35671	T	0.21	-17.852	7.7303	0.28783	0.8074:0.0:0.0671:0.1255	.	261;372;390	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	D	390;372;344;261	ENSP00000369390:N390D;ENSP00000265741:N372D;ENSP00000385034:N344D;ENSP00000398936:N261D	ENSP00000265741:N372D	N	+	1	0	CDK14	90579806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.179000	0.65043	1.056000	0.40484	0.533000	0.62120	AAC		0.443	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		178	741	0	0	0	1	0	178	741					G	90741870	A	G	90741870	3	3	79	1	0	0	0	0	1	0	0	0	3139	246	9	4	1160	4	CDK14	7	90741870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	759689	90741870	68396793	8514	18831											
FZD1	8321	broad.mit.edu	37	chr7	90895309	90895309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtggcctacatcgccGgcttcctcctggaagaccga	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895309G>A	ENST00000287934.2	+	1	1527	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	372					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACATCGCCGGCTTCCTCCT	0.632																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1114-1116)Ggc>Agc		frizzled family receptor 1							69	70	70					7																	90895309		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895309G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1114G>A	7.37:g.90895309G>A	ENSP00000287934:p.Gly372Ser						p.G372S	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1527	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		372					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1114G>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524564	0.85600	.	.	ENSG00000157240	ENST00000287934	D	0.81996	-1.56	4.5	4.5	0.54988	GPCR, family 2-like (1);	0.080290	0.48286	D	0.000199	D	0.92221	0.7533	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92864	0.6308	10	0.46703	T	0.11	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	372	Q9UP38	FZD1_HUMAN	S	372	ENSP00000287934:G372S	ENSP00000287934:G372S	G	+	1	0	FZD1	90733245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.729000	0.84864	2.327000	0.79052	0.407000	0.27541	GGC		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		23	532	0	0	0	1	0	23	532					A	90895309	G	A	90895309	3	1	79	1	0	0	0	0	1	0	0	0	6155	1116	39	1	1116	1	FZD1	7	90895309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153439	90895309	68243354	8515	18832											
FZD1	8321	broad.mit.edu	37	chr7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggtgggtgatcctgTcgctcacctggttcctggcg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	424					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1270-1272)Tcg>Ccg		frizzled family receptor 1							85	81	83					7																	90895465		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895465T>C	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1270T>C	7.37:g.90895465T>C	ENSP00000287934:p.Ser424Pro						p.S424P	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1683	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		424					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1270T>C	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897069	0.52121	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.46	4.46	0.54185	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000112	D	0.90421	0.7001	M	0.87971	2.92	0.44789	D	0.997797	D	0.57257	0.979	P	0.59825	0.864	D	0.92270	0.5824	10	0.87932	D	0	.	13.8883	0.63721	0.0:0.0:0.0:1.0	.	424	Q9UP38	FZD1_HUMAN	P	424	ENSP00000287934:S424P	ENSP00000287934:S424P	S	+	1	0	FZD1	90733401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.925000	0.48884	1.877000	0.54381	0.334000	0.21626	TCG		0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		27	383	0	0	0	1	0	27	383					C	90895465	T	C	90895465	3	2	79	1	0	0	0	0	1	0	0	0	6155	1667	58	4	1272	4	FZD1	7	90895465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	90895465	68243198	8516	18833											
FZD1	8321	broad.mit.edu	37	chr7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtgtacctgtttatcgGcacgtcctttctgctggccg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1504-1506)gGc>gAc		frizzled family receptor 1							173	152	159					7																	90895700		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895700G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1505G>A	7.37:g.90895700G>A	ENSP00000287934:p.Gly502Asp						p.G502D	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1918	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		502					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1505G>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582437	0.86748	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	D	502	ENSP00000287934:G502D	ENSP00000287934:G502D	G	+	2	0	FZD1	90733636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		196	792	0	0	0	1	0	196	792					A	90895700	G	A	90895700	3	1	79	1	0	0	0	0	1	0	0	0	6155	1203	42	2	1507	2	FZD1	7	90895700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	90895700	68242963	8517	18834											
FZD1	8321	broad.mit.edu	37	chr7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggcgggcggaggcgCcccgccgcacccgcccatga	14	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	590					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1768-1770)gCc>gTc		frizzled family receptor 1							20	21	21					7																	90895964		2200	4294	6494	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895964C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1769C>T	7.37:g.90895964C>T	ENSP00000287934:p.Ala590Val						p.A590V	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2182	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		590					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1769C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633820	0.29068	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.73	2.75	0.32379	GPCR, family 2-like (1);	0.677726	0.12176	N	0.492570	T	0.62986	0.2473	L	0.34521	1.04	0.25896	N	0.983419	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.23891	T	0.37	.	5.3639	0.16103	0.0:0.6788:0.2083:0.1129	.	590	Q9UP38	FZD1_HUMAN	V	590	ENSP00000287934:A590V	ENSP00000287934:A590V	A	+	2	0	FZD1	90733900	0.400000	0.25295	0.984000	0.44739	0.993000	0.82548	0.298000	0.19120	1.312000	0.45043	0.655000	0.94253	GCC		0.647	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		46	240	0	0	0	1	0	46	240					T	90895964	C	T	90895964	3	4	79	1	0	0	0	0	1	0	0	0	6155	739	26	2	1771	2	FZD1	7	90895964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	90895964	68242699	8518	18835											
FZD1	8321	broad.mit.edu	37	chr7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattaagtaccttatgacgCtgatcgtgggcatcacgtcg	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	611					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1831-1833)Ctg>Atg		frizzled family receptor 1							35	39	37					7																	90896026		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90896026C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1831C>A	7.37:g.90896026C>A	ENSP00000287934:p.Leu611Met						p.L611M	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2244	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		611					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1831C>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572397	0.45798	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.91	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000100	D	0.85026	0.5603	L	0.56199	1.76	0.46222	D	0.998932	P	0.40638	0.725	P	0.48738	0.588	T	0.81125	-0.1075	10	0.30854	T	0.27	.	4.55	0.12107	0.0:0.716:0.0:0.284	.	611	Q9UP38	FZD1_HUMAN	M	611	ENSP00000287934:L611M	ENSP00000287934:L611M	L	+	1	2	FZD1	90733962	0.703000	0.27826	0.994000	0.49952	0.899000	0.52679	0.771000	0.26633	2.709000	0.92574	0.655000	0.94253	CTG		0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		68	296	1	0	2.81305e-35	1	3.35631e-35	68	296					A	90896026	C	A	90896026	3	1	79	1	0	0	0	0	1	0	0	0	6155	796	28	3	1833	3	FZD1	7	90896026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	90896026	68242637	8519	18836											
AKAP9	10142	broad.mit.edu	37	chr7	91622256	91622256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcacaagacagtccgActcatctagagatgatggaa	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91622256A>C	ENST00000359028.2	+	6	724	c.499A>C	c.(499-501)Act>Cct	p.T167P	AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAGTCCGACTCATCTAGA	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(499-501)Act>Cct		A kinase (PRKA) anchor protein 9							116	113	114					7																	91622256		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91622256A>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.499A>C	7.37:g.91622256A>C	ENSP00000351922:p.Thr167Pro					AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P|AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P	p.T167P			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	724	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		167					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.499A>C		.	.	.	.	.	.	.	.	.	.	A	8.005	0.756176	0.15846	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.37	4.22	0.49857	.	0.000000	0.41500	D	0.000868	T	0.45013	0.1321	L	0.34521	1.04	0.31554	N	0.658346	B;B;D;B	0.76494	0.004;0.003;0.999;0.006	B;B;D;B	0.71656	0.004;0.004;0.974;0.009	T	0.49418	-0.8942	10	0.49607	T	0.09	.	10.8963	0.47025	0.9259:0.0:0.0741:0.0	.	155;155;167;155	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	P	155;167;167;167;167;155;106	ENSP00000348573:T155P;ENSP00000351922:T167P;ENSP00000350813:T167P;ENSP00000378065:T155P;ENSP00000391704:T106P	ENSP00000348573:T155P	T	+	1	0	AKAP9	91460192	0.043000	0.20138	0.969000	0.41365	0.293000	0.27360	2.255000	0.43222	2.147000	0.66899	0.533000	0.62120	ACT		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	251	0	0	0	1	0	7	251					C	91622256	A	C	91622256	3	2	79	1	0	0	0	0	1	0	0	0	459	275	10	4	481	4	AKAP9	7	91622256	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	726230	91622256	67516407	8520	18837											
AKAP9	10142	broad.mit.edu	37	chr7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttgtaaattcaaagTcagaagaaatgactcttcaa	6	7	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000359028.2	+	9	2401	c.2176T>A	c.(2176-2178)Tca>Aca	p.S726T	AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T|AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	726	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTCAAAGTCAGAAGAAAT	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2176-2178)Tca>Aca		A kinase (PRKA) anchor protein 9							20	22	21					7																	91631371		2007	4204	6211	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631371T>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2176T>A	7.37:g.91631371T>A	ENSP00000351922:p.Ser726Thr					AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T	p.S726T			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2401	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		726			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2176T>A		.	.	.	.	.	.	.	.	.	.	T	12.01	1.809990	0.31961	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.39	0.52855	.	0.000000	0.35151	N	0.003401	T	0.51261	0.1664	L	0.27053	0.805	0.39583	D	0.969461	P;P;D;P	0.69078	0.63;0.862;0.997;0.952	B;P;D;P	0.66196	0.365;0.646;0.942;0.699	T	0.49799	-0.8901	10	0.33940	T	0.23	.	12.6987	0.57018	0.0:0.0:0.1373:0.8627	.	726;714;714;726	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	714;726;726;726;726	ENSP00000348573:S714T;ENSP00000351922:S726T;ENSP00000350813:S726T	ENSP00000348573:S714T	S	+	1	0	AKAP9	91469307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	2.276000	0.75962	0.529000	0.55759	TCA		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		31	133	0	0	0	1	0	31	133					A	91631371	T	A	91631371	3	1	79	1	0	0	0	0	1	0	0	0	459	1667	58	5	2170	5	AKAP9	7	91631371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9115	91631371	67507292	8521	18838											
AKAP9	10142	broad.mit.edu	37	chr7	91631643	91631643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagaagaaagattgatTttcttagactccattaagtc	7	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000359028.2	+	9	2673	c.2448T>C	c.(2446-2448)atT>atC	p.I816I	AKAP9_ENST00000358100.2_Silent_p.I816I|AKAP9_ENST00000356239.3_Silent_p.I804I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	816	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATTGATTTTCTTAGACT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2446-2448)atT>atC		A kinase (PRKA) anchor protein 9							70	77	74					7																	91631643		2203	4296	6499	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631643T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2448T>C	7.37:g.91631643T>C						AKAP9_ENST00000356239.3_Silent_p.I804I|AKAP9_ENST00000358100.2_Silent_p.I816I	p.I816I			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2673	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		816			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2448T>C																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		87	355	0	0	0	1	0	87	355					C	91631643	T	C	91631643	2	2	79	1	0	0	0	0	0	0	0	1	459	1829	64	4		4	AKAP9	7	91631643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	272	91631643	67507020	8522	18839											
AKAP9	10142	broad.mit.edu	37	chr7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcagaaacattggaaAtgggtgaggttgttgaaaag	14	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000359028.2	+	9	3049	c.2824A>T	c.(2824-2826)Atg>Ttg	p.M942L	AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L|AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	942	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATTGGAAATGGGTGAGGT	0.363			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2824-2826)Atg>Ttg		A kinase (PRKA) anchor protein 9							46	47	46					7																	91632019		2202	4299	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91632019A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2824A>T	7.37:g.91632019A>T	ENSP00000351922:p.Met942Leu					AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L	p.M942L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	3049	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		942			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2824A>T		.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02737	4.18;4.18;4.18	5.28	-3.65	0.04502	.	1.558810	0.04096	N	0.312104	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47911	-0.9080	10	0.27082	T	0.32	.	6.3967	0.21616	0.2917:0.3727:0.3355:0.0	.	942;930;930;942	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	930;942;942;942;942	ENSP00000348573:M930L;ENSP00000351922:M942L;ENSP00000350813:M942L	ENSP00000348573:M930L	M	+	1	0	AKAP9	91469955	0.003000	0.15002	0.016000	0.15963	0.096000	0.18686	0.153000	0.16323	-0.530000	0.06349	-0.264000	0.10439	ATG		0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		52	232	0	0	0	1	0	52	232					T	91632019	A	T	91632019	3	4	79	1	0	0	0	0	1	0	0	0	459	101	4	5	2818	5	AKAP9	7	91632019	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376	91632019	67506644	8523	18840											
AKAP9	10142	broad.mit.edu	37	chr7	91643633	91643633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgaagaatgttcttaTtttttacaggtaaaatgttt	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000359028.2	+	11	3864	c.3639T>C	c.(3637-3639)taT>taC	p.Y1213Y	AKAP9_ENST00000358100.2_Silent_p.Y1213Y|AKAP9_ENST00000356239.3_Silent_p.Y1201Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1213					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTTCTTATTTTTTACAGG	0.373			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(3637-3639)taT>taC		A kinase (PRKA) anchor protein 9							87	88	88					7																	91643633		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91643633T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3639T>C	7.37:g.91643633T>C						AKAP9_ENST00000356239.3_Silent_p.Y1201Y|AKAP9_ENST00000358100.2_Silent_p.Y1213Y	p.Y1213Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	3864	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1213					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.3639T>C																																																																																					0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		29	108	0	0	0	1	0	29	108					C	91643633	T	C	91643633	2	2	79	1	0	0	0	0	0	0	0	1	459	1500	52	4		4	AKAP9	7	91643633	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11614	91643633	67495030	8524	18841											
AKAP9	10142	broad.mit.edu	37	chr7	91660882	91660882	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgttaagttgcttgaaaaAcaataccaagaacaattaga	6	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000359028.2	+	17	4563	c.4338A>G	c.(4336-4338)aaA>aaG	p.K1446K	AKAP9_ENST00000358100.2_Silent_p.K1446K|AKAP9_ENST00000356239.3_Silent_p.K1434K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1446					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K1434K(1)|p.K1446K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGAAAAACAATACCAAG	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.K1434K(1)|p.K1446K(1)	kidney(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4336-4338)aaA>aaG		A kinase (PRKA) anchor protein 9							128	135	132					7																	91660882		2202	4294	6496	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91660882A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4338A>G	7.37:g.91660882A>G						AKAP9_ENST00000356239.3_Silent_p.K1434K|AKAP9_ENST00000358100.2_Silent_p.K1446K	p.K1446K			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	4563	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1446					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4338A>G																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		57	238	0	0	0	1	0	57	238					G	91660882	A	G	91660882	2	3	79	1	0	0	0	0	0	0	0	1	459	40	2	4		4	AKAP9	7	91660882	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17249	91660882	67477781	8525	18842											
AKAP9	10142	broad.mit.edu	37	chr7	91668085	91668085	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacatttatagttagacagtCtgtaagtatgcctccttgaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4727C>A	c.(4726-4728)tCt>tAt	p.S1576Y	AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y|AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1576					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTAGACAGTCTGTAAGTATG	0.313			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e18+1		A kinase (PRKA) anchor protein 9							32	37	35					7																	91668085		2190	4286	6476	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91668085C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4728+1C>A	7.37:g.91668085C>A						AKAP9_ENST00000356239.3_Splice_Site_p.S1564_splice|AKAP9_ENST00000358100.2_Splice_Site_p.S1576_splice	p.S1576_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4952	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1576					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.4728_splice		.	.	.	.	.	.	.	.	.	.	C	11.03	1.518409	0.27211	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03524	3.9;3.9;3.9	5.1	2.12	0.27331	.	0.710293	0.11825	N	0.525801	T	0.05456	0.0144	L	0.57536	1.79	0.09310	N	0.999994	P;P;P;P	0.46220	0.8;0.874;0.874;0.631	B;B;B;B	0.41894	0.143;0.277;0.369;0.246	T	0.34079	-0.9843	10	0.66056	D	0.02	.	6.6724	0.23076	0.1424:0.7018:0.0:0.1558	.	1576;1564;1564;1576	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Y	1564;1576;1576;1576;1576	ENSP00000348573:S1564Y;ENSP00000351922:S1576Y;ENSP00000350813:S1576Y	ENSP00000348573:S1564Y	S	+	2	0	AKAP9	91506021	0.008000	0.16893	0.918000	0.36340	0.705000	0.40729	0.267000	0.18552	0.645000	0.30675	0.591000	0.81541	TCT		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Missense_Mutation	15	254	1	0	7.93312e-07	1	8.20014e-07	15	254					A	91668085	C	A	91668085	5	1	79	1	0	0	0	0	0	0	1	0	459	927	32	3	4757	3	AKAP9	7	91668085	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7203	91668085	67470578	8526	18843											
AKAP9	10142	broad.mit.edu	37	chr7	91690610	91690610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagacagagttgatgCgtgagtcatttagacagaaa	11	6	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	ENST00000359028.2	+	24	5899	c.5674C>T	c.(5674-5676)Cgt>Tgt	p.R1892C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1892	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGTTGATGCGTGAGTCATT	0.428			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5674-5676)Cgt>Tgt		A kinase (PRKA) anchor protein 9							91	89	90					7																	91690610		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91690610C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5674C>T	7.37:g.91690610C>T	ENSP00000351922:p.Arg1892Cys					AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000491695.1_3'UTR	p.R1892C			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	5899	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1892			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5674C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.067357	0.76301	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03920	3.77;3.77;3.76	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001172	T	0.23014	0.0556	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66847	0.886;0.947;0.947	T	0.00040	-1.2237	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1892;1880;1880	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1880;1892;1892;1892;95	ENSP00000348573:R1880C;ENSP00000351922:R1892C;ENSP00000350813:R1892C	ENSP00000265737:R95C	R	+	1	0	AKAP9	91528546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.840000	0.97914	0.655000	0.94253	CGT		0.428	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	434	0	0	0	1	0	11	434					T	91690610	C	T	91690610	3	4	79	1	0	0	0	0	1	0	0	0	459	768	27	1	5728	1	AKAP9	7	91690610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22525	91690610	67448053	8527	18844											
AKAP9	10142	broad.mit.edu	37	chr7	91699387	91699387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaaaacagacaaatGcagtgagcttttgctctcta	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91699387G>A	ENST00000359028.2	+	28	6635	c.6410G>A	c.(6409-6411)tGc>tAc	p.C2137Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2137	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACAAATGCAGTGAGCTT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(6409-6411)tGc>tAc		A kinase (PRKA) anchor protein 9							97	110	106					7																	91699387		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91699387G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6410G>A	7.37:g.91699387G>A	ENSP00000351922:p.Cys2137Tyr					AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y	p.C2137Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		28	6635	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2137			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6410G>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.284671	0.59867	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03468	3.93;3.93;3.92	5.3	5.3	0.74995	.	0.000000	0.43416	D	0.000566	T	0.13798	0.0334	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.986;0.991;0.999	T	0.14504	-1.0470	10	0.05351	T	0.99	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	2137;2125;2125	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	2125;2137;2137;2137	ENSP00000348573:C2125Y;ENSP00000351922:C2137Y;ENSP00000350813:C2137Y	ENSP00000348573:C2125Y	C	+	2	0	AKAP9	91537323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.749000	0.91619	2.650000	0.89964	0.557000	0.71058	TGC		0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		28	750	0	0	0	1	0	28	750					A	91699387	G	A	91699387	3	1	79	1	0	0	0	0	1	0	0	0	459	1319	46	2	6480	2	AKAP9	7	91699387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8777	91699387	67439276	8528	18845											
AKAP9	10142	broad.mit.edu	37	chr7	91709392	91709392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctagaactacagaagCtattggagggcaatgagaaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000359028.2	+	32	8206	c.7981C>T	c.(7981-7983)Cta>Tta	p.L2661L	AKAP9_ENST00000358100.2_Silent_p.L2661L|AKAP9_ENST00000356239.3_Silent_p.L2649L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2661	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACAGAAGCTATTGGAGGG	0.308			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7981-7983)Cta>Tta		A kinase (PRKA) anchor protein 9							20	22	22					7																	91709392		2090	4242	6332	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709392C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7981C>T	7.37:g.91709392C>T						AKAP9_ENST00000356239.3_Silent_p.L2649L|AKAP9_ENST00000358100.2_Silent_p.L2661L	p.L2661L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8206	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2661			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.7981C>T																																																																																					0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		45	144	0	0	0	1	0	45	144					T	91709392	C	T	91709392	2	4	79	1	0	0	0	0	0	0	0	1	459	796	28	2		2	AKAP9	7	91709392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10005	91709392	67429271	8529	18846											
AKAP9	10142	broad.mit.edu	37	chr7	91714146	91714146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttagattctggatcagaCtggggtcagggaatttatct	11	5	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000359028.2	+	35	8961	c.8736C>T	c.(8734-8736)gaC>gaT	p.D2912D	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.D2908D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2912					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGATCAGACTGGGGTCAGG	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8734-8736)gaC>gaT		A kinase (PRKA) anchor protein 9							98	102	100					7																	91714146		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714146C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8736C>T	7.37:g.91714146C>T						AKAP9_ENST00000356239.3_Silent_p.D2908D|AKAP9_ENST00000358100.2_Intron	p.D2912D			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		35	8961	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2912					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8736C>T		.	.	.	.	.	.	.	.	.	.	C	7.563	0.665143	0.14710	.	.	ENSG00000127914	ENST00000435423	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	.	13.363	0.60667	0.0:0.9237:0.0:0.0763	.	.	.	.	I	53	.	.	T	+	2	0	AKAP9	91552082	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.841000	0.39240	2.577000	0.86979	0.561000	0.74099	ACT		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		128	604	0	0	0	1	0	128	604					T	91714146	C	T	91714146	2	4	79	1	0	0	0	0	0	0	0	1	459	564	20	2		2	AKAP9	7	91714146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4754	91714146	67424517	8530	18847											
AKAP9	10142	broad.mit.edu	37	chr7	91735055	91735055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccatcaatattaacagAgatggctttggactgaatca	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000359028.2	+	47	11631	c.11406A>G	c.(11404-11406)agA>agG	p.R3802R	AKAP9_ENST00000358100.2_Silent_p.R3748R|AKAP9_ENST00000356239.3_Silent_p.R3798R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTAACAGAGATGGCTTTG	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11404-11406)agA>agG		A kinase (PRKA) anchor protein 9							136	135	135					7																	91735055		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91735055A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11406A>G	7.37:g.91735055A>G						AKAP9_ENST00000356239.3_Silent_p.R3798R|AKAP9_ENST00000358100.2_Silent_p.R3748R	p.R3802R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		47	11631	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3802					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.11406A>G																																																																																					0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		48	405	0	0	0	1	0	48	405					G	91735055	A	G	91735055	2	3	79	1	0	0	0	0	0	0	0	1	459	301	11	4		4	AKAP9	7	91735055	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20909	91735055	67403608	8531	18848											
KRIT1	889	broad.mit.edu	37	chr7	91863867	91863867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatctccttcacaggcGcttcggtggagaggaaaatc	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000340022.2	-	10	1903	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394507.1_Silent_p.S295S|KRIT1_ENST00000394503.2_Intron	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	295					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(883-885)agC>agT		KRIT1, ankyrin repeat containing							70	73	72					7																	91863867		2203	4300	6503	SO:0001819	synonymous_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91863867G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.885C>T	7.37:g.91863867G>A						KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000340022.2_Silent_p.S295S|KRIT1_ENST00000412043.2_Silent_p.S295S	p.S295S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	1668	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		295					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.885C>T	CCDS5624.1																																																																																				0.383	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			69	274	0	0	0	1	0	69	274					A	91863867	G	A	91863867	2	1	79	1	0	0	0	0	0	0	0	1	8475	1078	38	1		1	KRIT1	7	91863867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128812	91863867	67274796	8532	18849											
KRIT1	889	broad.mit.edu	37	chr7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccaatatgccttgtgTtatttcactgttgccttgaa	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000340022.2	-	5	1211	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(193-195)Aca>Gca		KRIT1, ankyrin repeat containing							215	192	200					7																	91870376		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870376T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.193A>G	7.37:g.91870376T>C	ENSP00000344668:p.Thr65Ala					KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A	p.T65A	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	976	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		65					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.193A>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724442	0.30593	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493	T;T;T;T;T;D;D;D	0.85702	1.05;1.05;1.05;1.05;-0.49;-2.02;-1.61;-1.61	6.08	2.23	0.28157	.	0.224065	0.45867	N	0.000337	T	0.61540	0.2355	N	0.04508	-0.205	0.33513	D	0.591426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52756	-0.8533	10	0.15499	T	0.54	.	3.9012	0.09162	0.2657:0.1413:0.0:0.593	.	65;65	A6NNU0;O00522	.;KRIT1_HUMAN	A	65	ENSP00000378015:T65A;ENSP00000344668:T65A;ENSP00000410909:T65A;ENSP00000378013:T65A;ENSP00000378011:T65A;ENSP00000391675:T65A;ENSP00000410104:T65A;ENSP00000405835:T65A	ENSP00000344668:T65A	T	-	1	0	KRIT1	91708312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.893000	0.39758	0.533000	0.28675	-0.336000	0.08194	ACA		0.353	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			83	290	0	0	0	1	0	83	290					C	91870376	T	C	91870376	3	2	79	1	0	0	0	0	1	0	0	0	8475	1725	60	4	2077	4	KRIT1	7	91870376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6509	91870376	67268287	8533	18850											
ANKIB1	54467	broad.mit.edu	37	chr7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaaatacagatagccctCgggctgcattgagcagctct	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	907							zinc ion binding (GO:0008270)	p.R907W(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAGCCCTCGGGCTGCATT	0.493																																						ENST00000265742.3																			1	Substitution - Missense(1)	p.R907W(1)	endometrium(1)	cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2719-2721)Cgg>Tgg		ankyrin repeat and IBR domain containing 1							59	57	58					7																	92027712		1883	4128	6011	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027712C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2719C>T	7.37:g.92027712C>T	ENSP00000265742:p.Arg907Trp						p.R907W	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3095	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		907					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2719C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363394	0.61513	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.87	2.99	0.34606	.	0.160491	0.53938	D	0.000048	T	0.22627	0.0546	L	0.34521	1.04	0.48185	D	0.999608	D;D	0.89917	1.0;0.984	D;P	0.66602	0.945;0.482	T	0.00581	-1.1660	10	0.87932	D	0	.	10.8133	0.46559	0.5232:0.3716:0.1052:0.0	.	259;907	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	W	907	ENSP00000265742:R907W	ENSP00000265742:R907W	R	+	1	2	ANKIB1	91865648	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	1.756000	0.38390	0.425000	0.26087	-0.181000	0.13052	CGG		0.493	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			25	104	0	0	0	1	0	25	104					T	92027712	C	T	92027712	3	4	79	1	0	0	0	0	1	0	0	0	630	875	31	1	2793	1	ANKIB1	7	92027712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157336	92027712	67110951	8534	18851											
ANKIB1	54467	broad.mit.edu	37	chr7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaaccctcagagtattgCcctgattcctccagcaacta	6	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2956-2958)gCc>gAc		ankyrin repeat and IBR domain containing 1							102	99	100					7																	92027950		1980	4167	6147	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027950C>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2957C>A	7.37:g.92027950C>A	ENSP00000265742:p.Ala986Asp						p.A986D	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3333	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		986					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2957C>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388527	0.61956	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.35	4.47	0.54385	.	0.165804	0.56097	D	0.000036	T	0.19765	0.0475	L	0.29908	0.895	0.58432	D	0.999996	D;B	0.67145	0.996;0.177	P;B	0.54759	0.76;0.1	T	0.01675	-1.1298	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	D	986	ENSP00000265742:A986D	ENSP00000265742:A986D	A	+	2	0	ANKIB1	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC		0.498	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			96	385	1	0	9.6635e-32	1	1.13884e-31	96	385					A	92027950	C	A	92027950	3	1	79	1	0	0	0	0	1	0	0	0	630	739	26	3	3031	3	ANKIB1	7	92027950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	92027950	67110713	8535	18852											
PEX1	5189	broad.mit.edu	37	chr7	92119135	92119135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgaagctgtccttaAcactggaggctgtgaaaaca	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000248633.4	-	22	3624	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000428214.1_Silent_p.L1120L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1177					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTGTCCTTAACACTGGAGGC	0.473																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3529-3531)Tta>Cta		peroxisomal biogenesis factor 1							135	116	123					7																	92119135		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92119135A>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3529T>C	7.37:g.92119135A>G						PEX1_ENST00000438045.1_Silent_p.L855L|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Silent_p.L1120L	p.L1177L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		22	3624	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1177					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.3529T>C	CCDS5627.1																																																																																				0.473	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		69	231	0	0	0	1	0	69	231					G	92119135	A	G	92119135	2	3	79	1	0	0	0	0	0	0	0	1	11777	40	2	4		4	PEX1	7	92119135	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91185	92119135	67019528	8536	18853											
PEX1	5189	broad.mit.edu	37	chr7	92122335	92122335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgtaaagtaaagctttcaGatcagctccagtaaaggagt	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000248633.4	-	20	3234	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1047					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAGCTTTCAGATCAGCTCCA	0.423																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3139-3141)Ctg>Ttg		peroxisomal biogenesis factor 1							137	132	134					7																	92122335		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92122335G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3139C>T	7.37:g.92122335G>A						PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L	p.L1047L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		20	3234	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1047					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.3139C>T	CCDS5627.1																																																																																				0.423	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		124	418	0	0	0	1	0	124	418					A	92122335	G	A	92122335	2	1	79	1	0	0	0	0	0	0	0	1	11777	933	33	2		2	PEX1	7	92122335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3200	92122335	67016328	8537	18854											
PEX1	5189	broad.mit.edu	37	chr7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgtcaaatgcttcttTacagattgctttggctaaag	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000248633.4	-	11	1935	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	614					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATGCTTCTTTACAGATTGCT	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1840-1842)Aaa>Gaa		peroxisomal biogenesis factor 1							160	152	155					7																	92135622		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92135622T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1840A>G	7.37:g.92135622T>C	ENSP00000248633:p.Lys614Glu					PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E	p.K614E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		11	1935	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	614					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1840A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900065	0.52227	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751;ENST00000545192	D;D;T;D	0.93076	-3.16;-3.16;2.25;-3.16	5.2	2.75	0.32379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.326457	0.36338	N	0.002645	D	0.89952	0.6864	L	0.38175	1.15	0.35821	D	0.824617	P;P;P	0.41366	0.698;0.698;0.747	B;B;B	0.43386	0.338;0.341;0.418	D	0.89190	0.3550	10	0.48119	T	0.1	-8.6891	11.8096	0.52175	0.0:0.0:0.3037:0.6963	.	292;406;614	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	E	292;614;614;31;614	ENSP00000410438:K292E;ENSP00000248633:K614E;ENSP00000394413:K614E;ENSP00000438637:K31E	ENSP00000248633:K614E	K	-	1	0	PEX1	91973558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.065000	0.49994	0.278000	0.22164	0.454000	0.30748	AAA		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		119	399	0	0	0	1	0	119	399					C	92135622	T	C	92135622	3	2	79	1	0	0	0	0	1	0	0	0	11777	1763	61	4	2067	4	PEX1	7	92135622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13287	92135622	67003041	8538	18855											
PEX1	5189	broad.mit.edu	37	chr7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaaaggaagaataaagtCaatttcctcactgttttctt	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000248633.4	-	9	1728	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	545					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAATAAAGTCAATTTCCTCA	0.343																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1633-1635)Gac>Aac		peroxisomal biogenesis factor 1							69	71	70					7																	92138680		2203	4297	6500	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92138680C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1633G>A	7.37:g.92138680C>T	ENSP00000248633:p.Asp545Asn					PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N	p.D545N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		9	1728	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	545					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1633G>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241212	0.79912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95412	-3.51;-3.54;-3.7	5.95	4.89	0.63831	.	0.499086	0.24238	N	0.040300	D	0.94712	0.8294	L	0.55481	1.735	0.80722	D	1	B;D;D	0.59767	0.139;0.986;0.986	B;P;P	0.50970	0.045;0.655;0.655	D	0.92607	0.6096	10	0.30078	T	0.28	-18.6954	12.974	0.58527	0.0:0.911:0.0:0.089	.	223;337;545	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	223;545;545;545	ENSP00000410438:D223N;ENSP00000248633:D545N;ENSP00000394413:D545N	ENSP00000248633:D545N	D	-	1	0	PEX1	91976616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.529000	0.45632	2.826000	0.97356	0.491000	0.48974	GAC		0.343	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		43	175	0	0	0	1	0	43	175					T	92138680	C	T	92138680	3	4	79	1	0	0	0	0	1	0	0	0	11777	826	29	2	2282	2	PEX1	7	92138680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3058	92138680	66999983	8539	18856											
C7orf64	84060	broad.mit.edu	37	chr7	92163909	92163909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatgtatgtgttcatcCgggggacctgtagacagagc	12	8	2	2	rs376908850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92163909C>T	ENST00000265732.5	+	4	683	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RBM48_ENST00000481551.1_Silent_p.S214S	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	214						nucleus (GO:0005634)	RNA binding (GO:0003723)										TGTGTTCATCCGGGGGACCTG	0.423																																						ENST00000481551.1																			0											c.(640-642)tcC>tcT		RNA binding motif protein 48		C		1,3743		0,1,1871	132	117	122		642	-1.8	0	7		122	0,8210		0,0,4105	no	coding-synonymous	C7orf64	NM_032120.2		0,1,5976	TT,TC,CC		0.0,0.0267,0.0084		214/368	92163909	1,11953	1872	4105	5977	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92163909C>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.642C>T	7.37:g.92163909C>T						RBM48_ENST00000265732.5_Silent_p.S214S	p.S214S			Q5RL73	CG064_HUMAN			4	683	+			214					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.642C>T	CCDS43615.1																																																																																				0.423	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		42	281	0	0	0	1	0	42	281					T	92163909	C	T	92163909	2	4	79	1	0	0	0	0	0	0	0	1	2417	639	23	1		1	C7orf64	7	92163909	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25229	92163909	66974754	8540	18857											
C7orf64	84060	broad.mit.edu	37	chr7	92164195	92164195	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaatgagattatgattGgacctctgttaccagacatc	9	8	1	3	rs188801072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164195G>T	ENST00000265732.5	+	4	969	c.928G>T	c.(928-930)Gga>Tga	p.G310*	RBM48_ENST00000481551.1_Nonsense_Mutation_p.G310*	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	310						nucleus (GO:0005634)	RNA binding (GO:0003723)										GATTATGATTGGACCTCTGTT	0.383																																						ENST00000481551.1																			0											c.(928-930)Gga>Tga		RNA binding motif protein 48							57	57	57					7																	92164195		1869	4108	5977	SO:0001587	stop_gained	84060						nucleotide binding	g.chr7:92164195G>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.928G>T	7.37:g.92164195G>T	ENSP00000265732:p.Gly310*					RBM48_ENST00000265732.5_Nonsense_Mutation_p.G310*	p.G310*			Q5RL73	CG064_HUMAN			4	969	+			310					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Nonsense_Mutation	SNP	ENST00000265732.5	37	c.928G>T	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797389	0.96952	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.3793	19.0892	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000265732:G310X	G	+	1	0	C7orf64	92002131	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.956000	0.93066	2.746000	0.94184	0.591000	0.81541	GGA		0.383	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		66	232	1	0	1.49723e-40	1	1.81615e-40	66	232					T	92164195	G	T	92164195	4	4	79	1	0	0	0	0	0	1	0	0	2417	1349	47	3	942	3	C7orf64	7	92164195	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286	92164195	66974468	8541	18858											
SAMD9	54809	broad.mit.edu	37	chr7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacaattgttttcagctcGaccttgtaaacgaagcaaaa	6	8	1	0	rs375396225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1533						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGCTCGACCTTGTAAA	0.383																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4597-4599)Cga>Tga		sterile alpha motif domain containing 9							78	81	80					7																	92730814		2203	4300	6503	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92730814G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4597C>T	7.37:g.92730814G>A	ENSP00000369292:p.Arg1533*						p.R1533*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4866	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1533					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.4597C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	43	10.085803	0.99333	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.34	2.34	0.29019	.	0.399395	0.20515	U	0.090804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3242	0.43783	0.0:0.0:0.4711:0.5289	.	.	.	.	X	1533	.	ENSP00000369292:R1533X	R	-	1	2	SAMD9	92568750	0.003000	0.15002	0.750000	0.31169	0.630000	0.37929	1.478000	0.35442	1.173000	0.42796	0.609000	0.83330	CGA		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		38	307	0	0	0	1	0	38	307					A	92730814	G	A	92730814	4	1	79	1	0	0	0	0	0	1	0	0	13876	1066	37	1	176	1	SAMD9	7	92730814	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566619	92730814	66407849	8542	18859											
SAMD9	54809	broad.mit.edu	37	chr7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgcgtactccacagTagttcccacattcgatgacc	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	978						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTCCACAGTAGTTCCCACA	0.393																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2932-2934)tAc>tGc		sterile alpha motif domain containing 9							128	124	126					7																	92732478		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732478T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2933A>G	7.37:g.92732478T>C	ENSP00000369292:p.Tyr978Cys						p.Y978C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3202	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		978					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2933A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471728	0.04445	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.88	4.88	0.63580	.	0.437147	0.20801	N	0.085438	T	0.15609	0.0376	L	0.31752	0.955	0.23876	N	0.996594	P	0.43885	0.82	B	0.34652	0.187	T	0.17992	-1.0351	10	0.52906	T	0.07	-4.8748	8.1729	0.31264	0.0:0.0903:0.0:0.9097	.	978	Q5K651	SAMD9_HUMAN	C	978	ENSP00000369292:Y978C;ENSP00000414529:Y978C	ENSP00000369292:Y978C	Y	-	2	0	SAMD9	92570414	1.000000	0.71417	0.179000	0.23059	0.248000	0.25809	3.567000	0.53813	2.059000	0.61396	0.496000	0.49642	TAC		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		103	372	0	0	0	1	0	103	372					C	92732478	T	C	92732478	3	2	79	1	0	0	0	0	1	0	0	0	13876	1638	57	4	1840	4	SAMD9	7	92732478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	92732478	66406185	8543	18860											
SAMD9	54809	broad.mit.edu	37	chr7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagaggtttttcatatcGaatgtactttttagctatag	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATATCGAATGTACTTT	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2470-2472)Cga>Tga		sterile alpha motif domain containing 9							67	68	68					7																	92732941		2203	4298	6501	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92732941G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2470C>T	7.37:g.92732941G>A	ENSP00000369292:p.Arg824*						p.R824*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2739	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		824					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.2470C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494928	0.97612	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	2.51	0.30379	.	0.257740	0.23690	U	0.045527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7059	0.28650	0.0:0.161:0.5076:0.3314	.	.	.	.	X	824	.	ENSP00000369292:R824X	R	-	1	2	SAMD9	92570877	0.000000	0.05858	0.937000	0.37676	0.932000	0.56968	0.105000	0.15333	0.429000	0.26202	0.609000	0.83330	CGA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		16	442	0	0	0	1	0	16	442					A	92732941	G	A	92732941	4	1	79	1	0	0	0	0	0	1	0	0	13876	1066	37	1	2303	1	SAMD9	7	92732941	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	92732941	66405722	8544	18861											
SAMD9	54809	broad.mit.edu	37	chr7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgatggtcttcaaaaTacttgtttatcatcagattg	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	271						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCAAAATACTTGTTTAT	0.388																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(811-813)tAt>tGt		sterile alpha motif domain containing 9							151	148	149					7																	92734599		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734599T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.812A>G	7.37:g.92734599T>C	ENSP00000369292:p.Tyr271Cys						p.Y271C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1081	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		271					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.812A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204867	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	0.000000	0.56097	U	0.000039	T	0.34600	0.0903	L	0.54323	1.7	0.34310	D	0.68537	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.44086	T	0.13	-9.2377	12.7423	0.57259	0.0:0.0:0.0:1.0	.	271	Q5K651	SAMD9_HUMAN	C	271	ENSP00000369292:Y271C;ENSP00000414529:Y271C	ENSP00000369292:Y271C	Y	-	2	0	SAMD9	92572535	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.483000	0.53194	1.948000	0.56530	0.491000	0.48974	TAT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		45	454	0	0	0	1	0	45	454					C	92734599	T	C	92734599	3	2	79	1	0	0	0	0	1	0	0	0	13876	1406	49	4	3961	4	SAMD9	7	92734599	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1658	92734599	66404064	8545	18862											
SAMD9	54809	broad.mit.edu	37	chr7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcctggtcctgtttcagGctgtagactaaaatccaact	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGTTTCAGGCTGTAGACTA	0.388																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(547-549)Cct>Tct		sterile alpha motif domain containing 9							149	139	142					7																	92734864		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734864G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.547C>T	7.37:g.92734864G>A	ENSP00000369292:p.Pro183Ser						p.P183S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	816	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		183					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.547C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902058	0.33628	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15139	2.45;2.45	4.7	4.7	0.59300	.	0.076196	0.52532	D	0.000067	T	0.23572	0.0570	L	0.55990	1.75	0.27564	N	0.950106	P	0.47841	0.901	P	0.44696	0.458	T	0.08146	-1.0736	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	183	Q5K651	SAMD9_HUMAN	S	183	ENSP00000369292:P183S;ENSP00000414529:P183S	ENSP00000369292:P183S	P	-	1	0	SAMD9	92572800	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	6.510000	0.73729	2.613000	0.88420	0.603000	0.83216	CCT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		167	511	0	0	0	1	0	167	511					A	92734864	G	A	92734864	3	1	79	1	0	0	0	0	1	0	0	0	13876	1203	42	2	4226	2	SAMD9	7	92734864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265	92734864	66403799	8546	18863											
SAMD9	54809	broad.mit.edu	37	chr7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtaacgatatggaTtactgaattcatcaaatgga	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	171						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGATATGGATTACTGAATTC	0.363																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(511-513)aAt>aTt		sterile alpha motif domain containing 9							145	143	144					7																	92734899		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734899T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.512A>T	7.37:g.92734899T>A	ENSP00000369292:p.Asn171Ile						p.N171I	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	781	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		171					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.512A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663551	0.29515	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14391	2.51;2.51	4.7	3.53	0.40419	.	0.485095	0.17700	N	0.164974	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.25882	-1.0119	10	0.72032	D	0.01	.	4.973	0.14125	0.1622:0.089:0.0:0.7488	.	171	Q5K651	SAMD9_HUMAN	I	171	ENSP00000369292:N171I;ENSP00000414529:N171I	ENSP00000369292:N171I	N	-	2	0	SAMD9	92572835	0.002000	0.14202	0.020000	0.16555	0.966000	0.64601	0.554000	0.23407	0.934000	0.37316	0.491000	0.48974	AAT		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		52	538	0	0	0	1	0	52	538					A	92734899	T	A	92734899	3	1	79	1	0	0	0	0	1	0	0	0	13876	1493	52	5	4261	5	SAMD9	7	92734899	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	92734899	66403764	8547	18864											
SAMD9	54809	broad.mit.edu	37	chr7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagatgtctgaatcgaatCttcaatggctgttttccgca	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(241-243)Gat>Aat		sterile alpha motif domain containing 9							162	160	161					7																	92735170		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92735170C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.241G>A	7.37:g.92735170C>T	ENSP00000369292:p.Asp81Asn						p.D81N	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	510	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		81					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.241G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164680	0.06502	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22336	1.96;2.77	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.09338	T	0.73	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	N	81	ENSP00000369292:D81N;ENSP00000414529:D81N	ENSP00000369292:D81N	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		146	574	0	0	0	1	0	146	574					T	92735170	C	T	92735170	3	4	79	1	0	0	0	0	1	0	0	0	13876	913	32	2	4532	2	SAMD9	7	92735170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	92735170	66403493	8548	18865											
SAMD9L	219285	broad.mit.edu	37	chr7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtgtgcttgcctgcttgGacctgcacatgcgcttgtac	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1469					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)				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)			TGCCTGCTTGGACCTGCACAT	0.398																																						ENST00000318238.4																			0				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						c.(4405-4407)tCc>tTc		sterile alpha motif domain containing 9-like							150	140	144					7																	92760879		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92760879G>A	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.4406C>T	7.37:g.92760879G>A	ENSP00000326247:p.Ser1469Phe					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5622	-	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)		1469					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4406C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398691	0.42512	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.24908	1.83;1.83;1.83	5.22	4.26	0.50523	.	0.251965	0.32518	N	0.005995	T	0.27697	0.0681	L	0.56769	1.78	0.26349	N	0.977236	B	0.15473	0.013	B	0.14578	0.011	T	0.21008	-1.0258	10	0.72032	D	0.01	-7.544	14.055	0.64761	0.0851:0.0:0.9149:0.0	.	1469	Q8IVG5	SAM9L_HUMAN	F	1469;1469;1469;291	ENSP00000326247:S1469F;ENSP00000405760:S1469F;ENSP00000408796:S1469F	ENSP00000326247:S1469F	S	-	2	0	SAMD9L	92598815	0.014000	0.17966	0.986000	0.45419	0.848000	0.48234	1.075000	0.30716	2.716000	0.92895	0.467000	0.42956	TCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		211	792	0	0	0	1	0	211	792					A	92760879	G	A	92760879	3	1	79	1	0	0	0	0	1	0	0	0	13877	1174	41	2	352	2	SAMD9L	7	92760879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25709	92760879	66377784	8549	18866											
SAMD9L	219285	broad.mit.edu	37	chr7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacagtaatgctcctacaGtttttgttcccatccaacca	4	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1140					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.N1140N(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)			TGCTCCTACAGTTTTTGTTCC	0.383																																						ENST00000318238.4																			1	Substitution - coding silent(1)	p.N1140N(1)	large_intestine(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						c.(3418-3420)aaC>aaA		sterile alpha motif domain containing 9-like							114	118	116					7																	92761865		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761865G>T	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.3420C>A	7.37:g.92761865G>T	ENSP00000326247:p.Asn1140Lys					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4636	-	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)		1140					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3420C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.018784	0.00418	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20881	2.04;2.04;2.04	4.88	-1.8	0.07907	.	0.250073	0.29369	N	0.012357	T	0.06781	0.0173	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32348	-0.9910	10	0.02654	T	1	-0.4434	1.9203	0.03306	0.1395:0.1944:0.276:0.3901	.	1140	Q8IVG5	SAM9L_HUMAN	K	1140	ENSP00000326247:N1140K;ENSP00000405760:N1140K;ENSP00000408796:N1140K	ENSP00000326247:N1140K	N	-	3	2	SAMD9L	92599801	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.330000	0.02675	-0.013000	0.14199	0.467000	0.42956	AAC		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		168	619	1	0	7.35938e-57	1	9.2123e-57	168	619					T	92761865	G	T	92761865	3	4	79	1	0	0	0	0	1	0	0	0	13877	1020	36	3	1338	3	SAMD9L	7	92761865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	986	92761865	66376798	8550	18867											
SAMD9L	219285	broad.mit.edu	37	chr7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatatcgcaaatccttttCtgctaaaacggaatggatgg	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	824					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)				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)			AAATCCTTTTCTGCTAAAACG	0.378																																						ENST00000318238.4																			0				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						c.(2470-2472)Gaa>Taa		sterile alpha motif domain containing 9-like							76	77	76					7																	92762815		2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92762815C>A	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.2470G>T	7.37:g.92762815C>A	ENSP00000326247:p.Glu824*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3686	-	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)		824					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.2470G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	45	11.488408	0.99567	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.67	1.81	0.25067	.	0.229546	0.35151	N	0.003407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.998	8.6694	0.34140	0.0:0.7387:0.0:0.2613	.	.	.	.	X	824	.	ENSP00000326247:E824X	E	-	1	0	SAMD9L	92600751	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.087000	0.14958	0.190000	0.20209	0.467000	0.42956	GAA		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		106	365	1	0	8.64784e-51	1	1.07212e-50	106	365					A	92762815	C	A	92762815	4	1	79	1	0	0	0	0	0	1	0	0	13877	922	32	3	2288	3	SAMD9L	7	92762815	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	950	92762815	66375848	8551	18868											
SAMD9L	219285	broad.mit.edu	37	chr7	92762927	92762927	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggctctttgccctataGgtgaccagattgatcacttg	10	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	786					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)				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)			TTGCCCTATAGGTGACCAGAT	0.378																																						ENST00000318238.4																			0				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						c.(2356-2358)acC>acA		sterile alpha motif domain containing 9-like							123	120	121					7																	92762927		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92762927G>T	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.2358C>A	7.37:g.92762927G>T						SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3574	-	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)		786					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2358C>A	CCDS34681.1																																																																																				0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		117	545	1	0	3.44186e-60	1	4.32629e-60	117	545					T	92762927	G	T	92762927	2	4	79	1	0	0	0	0	0	0	0	1	13877	987	35	3		3	SAMD9L	7	92762927	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	92762927	66375736	8552	18869											
SAMD9L	219285	broad.mit.edu	37	chr7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttttaacaaaatctgaaGaatagttttcagaagaaaaa	5	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706					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)				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)			AAAATCTGAAGAATAGTTTTC	0.323																																						ENST00000318238.4																			0				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						c.(2116-2118)tCt>tAt		sterile alpha motif domain containing 9-like							52	55	54					7																	92763168		2200	4294	6494	SO:0001583	missense	219285							g.chr7:92763168G>T	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.2117C>A	7.37:g.92763168G>T	ENSP00000326247:p.Ser706Tyr					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3333	-	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)		706					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2117C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680810	0.47886	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.55	4.55	0.56014	.	0.482216	0.19226	N	0.119549	T	0.41442	0.1159	M	0.63843	1.955	0.29057	N	0.884132	P	0.46142	0.873	P	0.54026	0.74	T	0.33059	-0.9883	10	0.72032	D	0.01	-9.738	13.7229	0.62740	0.0:0.1554:0.8446:0.0	.	706	Q8IVG5	SAM9L_HUMAN	Y	706	ENSP00000326247:S706Y;ENSP00000405760:S706Y;ENSP00000408796:S706Y	ENSP00000326247:S706Y	S	-	2	0	SAMD9L	92601104	0.961000	0.32948	1.000000	0.80357	0.864000	0.49448	2.549000	0.45803	2.372000	0.80975	0.467000	0.42956	TCT		0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		101	315	1	0	2.73867e-56	1	3.42633e-56	101	315					T	92763168	G	T	92763168	3	4	79	1	0	0	0	0	1	0	0	0	13877	942	33	3	2641	3	SAMD9L	7	92763168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	92763168	66375495	8553	18870											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactttctcagatgcaacttCtaagcgaggcccatgcttaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	300	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(898-900)Gaa>Taa		HEPACAM family member 2							168	150	156					7																	92838007		2203	4300	6503	SO:0001587	stop_gained	253012					integral to membrane		g.chr7:92838007C>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.898G>T	7.37:g.92838007C>A	ENSP00000377980:p.Glu300*					HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*	p.E300*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	975	-			300			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	c.898G>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929985	0.92389	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.23	4.28	0.50868	.	0.047731	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.2396	9.6034	0.39619	0.0:0.7803:0.1439:0.0758	.	.	.	.	X	300;288;288;323	.	ENSP00000340532:E288X	E	-	1	0	HEPACAM2	92675943	1.000000	0.71417	0.984000	0.44739	0.701000	0.40568	4.060000	0.57477	2.826000	0.97356	0.655000	0.94253	GAA		0.433	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		92	359	1	0	5.56898e-48	1	6.86499e-48	92	359					A	92838007	C	A	92838007	4	1	79	1	0	0	0	0	0	1	0	0	7083	922	32	3	518	3	HEPACAM2	7	92838007	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	92838007	66300656	8554	18871											
CCDC132	55610	broad.mit.edu	37	chr7	92963455	92963455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactggactcggccttagTagtagtagactaagaacaac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000305866.5	+	22	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_ENST00000544910.1_Silent_p.S638S|CCDC132_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	668						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1912-1914)agT>agC		coiled-coil domain containing 132							149	146	147					7																	92963455		1815	4070	5885	SO:0001819	synonymous_variant	55610							g.chr7:92963455T>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2004T>C	7.37:g.92963455T>C						CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000305866.5_Silent_p.S668S|CCDC132_ENST00000541136.1_Silent_p.S479S	p.S638S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		23	2134	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		668					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.1914T>C	CCDS43617.1																																																																																				0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		136	512	0	0	0	1	0	136	512					C	92963455	T	C	92963455	2	2	79	1	0	0	0	0	0	0	0	1	2774	1635	57	4		4	CCDC132	7	92963455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125448	92963455	66175208	8555	18872											
CCDC132	55610	broad.mit.edu	37	chr7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaatcgaactattgtagaAgggtaagtttttcatgaaag	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000305866.5	+	26	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	861						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2491-2493)gaA>gaC		coiled-coil domain containing 132							121	115	117					7																	92983071		1824	4076	5900	SO:0001583	missense	55610							g.chr7:92983071A>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2583A>C	7.37:g.92983071A>C	ENSP00000307666:p.Glu861Asp					CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000305866.5_Missense_Mutation_p.E861D|CCDC132_ENST00000541136.1_3'UTR	p.E831D	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		27	2713	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		861					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2493A>C	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844788	0.71603	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	4.23	0.50019	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.38649	1.16	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.979	D;D;D	0.77004	0.989;0.98;0.982	T	0.58624	-0.7604	9	0.30078	T	0.28	-11.2153	10.4322	0.44413	0.8921:0.0:0.1079:0.0	.	581;831;861	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	861;831;581	.	ENSP00000307666:E861D	E	+	3	2	CCDC132	92821007	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.723000	0.47277	2.237000	0.73441	0.528000	0.53228	GAA		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		100	415	0	0	0	1	0	100	415					C	92983071	A	C	92983071	3	2	79	1	0	0	0	0	1	0	0	0	2774	69	3	4	2727	4	CCDC132	7	92983071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19616	92983071	66155592	8556	18873											
CALCR	799	broad.mit.edu	37	chr7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggacaatactccagccgGtgtgtcatcccagcacagcc	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(310-312)Ccg>Tcg		calcitonin receptor	Salmon Calcitonin(DB00017)						91	79	83					7																	93106930		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106930G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.256C>T	7.37:g.93106930G>A	ENSP00000377959:p.Pro86Ser					CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S	p.P104S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	609	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		86					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.310C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		43	169	0	0	0	1	0	43	169					A	93106930	G	A	93106930	3	1	79	1	0	0	0	0	1	0	0	0	2586	1261	44	2	1260	2	CALCR	7	93106930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123859	93106930	66031733	8557	18874											
COL1A2	1278	broad.mit.edu	37	chr7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccggtccccgtggtgaagTgggtcttccaggcctctccg	14	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	285					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(853-855)gTg>gCg		collagen, type I, alpha 2	Collagenase(DB00048)						85	98	93					7																	94038695		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038695T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.854T>C	7.37:g.94038695T>C	ENSP00000297268:p.Val285Ala	HNSCC(75;0.22)					p.V285A	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1325	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		285					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.854T>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282364	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93247	-3.19	5.73	1.87	0.25490	.	0.381500	0.28130	N	0.016489	T	0.79393	0.4438	N	0.03050	-0.425	0.22903	N	0.998586	B	0.02656	0.0	B	0.01281	0.0	T	0.67662	-0.5613	10	0.30854	T	0.27	.	5.0595	0.14550	0.1218:0.2643:0.0:0.6139	.	285	P08123	CO1A2_HUMAN	A	285;286	ENSP00000297268:V285A	ENSP00000297268:V285A	V	+	2	0	COL1A2	93876631	0.818000	0.29161	0.992000	0.48379	0.990000	0.78478	1.716000	0.37981	0.132000	0.18615	0.533000	0.62120	GTG		0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		113	461	0	0	0	1	0	113	461					C	94038695	T	C	94038695	3	2	79	1	0	0	0	0	1	0	0	0	3687	1696	59	4	920	4	COL1A2	7	94038695	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	931765	94038695	65099968	8558	18875											
COL1A2	1278	broad.mit.edu	37	chr7	94052429	94052429	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggagaggctggtactgCtgtaagtgatttccaactcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	855			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e40+1		collagen, type I, alpha 2	Collagenase(DB00048)						109	100	103					7																	94052429		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052429C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2565+1C>T	7.37:g.94052429C>T		HNSCC(75;0.22)					p.A855_splice	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3035	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		855		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37	c.2565_splice	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583147	0.65992	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.95821	-3.82	5.32	5.32	0.75619	.	0.258640	0.37530	N	0.002045	D	0.91653	0.7362	N	0.17872	0.535	0.54753	D	0.999987	B	0.10296	0.003	B	0.06405	0.002	D	0.86848	0.2021	10	0.51188	T	0.08	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	855	P08123	CO1A2_HUMAN	V	855;856	ENSP00000297268:A855V	ENSP00000297268:A855V	A	+	2	0	COL1A2	93890365	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.158000	0.42329	2.662000	0.90505	0.563000	0.77884	GCT		0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation	94	390	0	0	0	1	0	94	390					T	94052429	C	T	94052429	5	4	79	1	0	0	0	0	0	0	1	0	3687	811	28	2	2722	2	COL1A2	7	94052429	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13734	94052429	65086234	8559	18876											
COL1A2	1278	broad.mit.edu	37	chr7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaacgatggtcccccaggtCgcgatggtcaacccggacac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2812-2814)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						106	96	99					7																	94054952		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054952C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2812C>T	7.37:g.94054952C>T	ENSP00000297268:p.Arg938Cys	HNSCC(75;0.22)					p.R938C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		43	3283	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		938					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2812C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428428	0.83667	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94330	-3.4	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97202	0.9865	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	938	P08123	CO1A2_HUMAN	C	938;939	ENSP00000297268:R938C	ENSP00000297268:R938C	R	+	1	0	COL1A2	93892888	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC		0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		53	298	0	0	0	1	0	53	298					T	94054952	C	T	94054952	3	4	79	1	0	0	0	0	1	0	0	0	3687	884	31	1	2982	1	COL1A2	7	94054952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2523	94054952	65083711	8560	18877											
CASD1	64921	broad.mit.edu	37	chr7	94180661	94180661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttcaggtagttttccaCggaatgctgtttgcttttat	8	7	1	0	rs549396821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	609						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGTTTTCCACGGAATGCTGT	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		14771	0.001		0.0	False		,,,				2504	0.0					ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1825-1827)caC>caT		CAS1 domain containing 1							67	68	67					7																	94180661		2201	4296	6497	SO:0001819	synonymous_variant	64921					integral to membrane		g.chr7:94180661C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1827C>T	7.37:g.94180661C>T							p.H609H	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	2114	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		609					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	ENST00000297273.4	37	c.1827C>T	CCDS5636.1																																																																																				0.299	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		14	148	0	0	0	1	0	14	148					T	94180661	C	T	94180661	2	4	79	1	0	0	0	0	0	0	0	1	2671	535	19	1		1	CASD1	7	94180661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125709	94180661	64958002	8561	18878											
CASD1	64921	broad.mit.edu	37	chr7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgctcaacatcattgTcagcactttcatatttgttt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	740						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCATTGTCAGCACTTTC	0.388																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2218-2220)gTc>gCc		CAS1 domain containing 1							103	92	96					7																	94184895		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94184895T>C	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2219T>C	7.37:g.94184895T>C	ENSP00000297273:p.Val740Ala						p.V740A	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	2506	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		740					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2219T>C	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697164	0.48202	.	.	ENSG00000127995	ENST00000297273	T	0.52754	0.65	5.29	4.14	0.48551	.	0.115568	0.64402	N	0.000017	T	0.49406	0.1555	M	0.78049	2.395	0.49389	D	0.999789	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.51332	-0.8719	10	0.87932	D	0	.	11.1885	0.48671	0.0:0.0728:0.0:0.9272	.	740;740	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	740	ENSP00000297273:V740A	ENSP00000297273:V740A	V	+	2	0	CASD1	94022831	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	6.114000	0.71560	0.970000	0.38263	-0.333000	0.08304	GTC		0.388	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		55	260	0	0	0	1	0	55	260					C	94184895	T	C	94184895	3	2	79	1	0	0	0	0	1	0	0	0	2671	1667	58	4	2289	4	CASD1	7	94184895	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4234	94184895	64953768	8562	18879											
SGCE	8910	broad.mit.edu	37	chr7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggacacttactgctgcGtttgcatcaatggcatgttt	10	8	1	0	rs560154922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000265735.7	-	9	1357	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000415788.2_Missense_Mutation_p.T452M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	416					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16101	0.0		0.0	False		,,,				2504	0.001					ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(1354-1356)aCg>aTg		sarcoglycan, epsilon							202	184	190					7																	94228093		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94228093G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1247C>T	7.37:g.94228093G>A	ENSP00000265735:p.Thr416Met					SGCE_ENST00000265735.7_Missense_Mutation_p.T416M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M	p.T452M			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		10	1442	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		416					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1355C>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148267	0.78001	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.21	5.21	0.72293	.	0.045801	0.85682	D	0.000000	D	0.98055	0.9359	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;P;P;D	0.89917	1.0;1.0;0.998;0.916;0.919;0.997	D;D;P;P;P;D	0.91635	0.999;0.971;0.88;0.616;0.714;0.91	D	0.99246	1.0886	10	0.62326	D	0.03	-20.0409	19.1279	0.93393	0.0:0.0:1.0:0.0	.	452;375;407;416;416;407	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	M	416;416;375;407;407;452	ENSP00000265735:T416M;ENSP00000398930:T416M;ENSP00000394061:T375M;ENSP00000388734:T407M;ENSP00000397536:T407M;ENSP00000405313:T452M	ENSP00000265735:T416M	T	-	2	0	SGCE	94066029	1.000000	0.71417	0.857000	0.33713	0.893000	0.52053	9.297000	0.96120	2.608000	0.88229	0.650000	0.86243	ACG		0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			125	505	0	0	0	1	0	125	505					A	94228093	G	A	94228093	3	1	79	1	0	0	0	0	1	0	0	0	14252	1145	40	1	230	1	SGCE	7	94228093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43198	94228093	64910570	8563	18880											
SGCE	8910	broad.mit.edu	37	chr7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttggatatatcgaagCcatccaggtcggtctgggta	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000265735.7	-	3	410	c.300G>A	c.(298-300)tgG>tgA	p.W100*	SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000415788.2_Nonsense_Mutation_p.W136*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	100			W -> G (in DYT11). {ECO:0000269|PubMed:18362280}.		cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	GRCh37	CM061979	SGCE	M		c.(406-408)tgG>tgA		sarcoglycan, epsilon							92	84	87					7																	94257604		2203	4299	6502	SO:0001587	stop_gained	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94257604C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.300G>A	7.37:g.94257604C>T	ENSP00000265735:p.Trp100*					SGCE_ENST00000265735.7_Nonsense_Mutation_p.W100*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*	p.W136*			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	495	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		100					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Nonsense_Mutation	SNP	ENST00000265735.7	37	c.408G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419078	0.96092	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8144	19.7702	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;59;100;100;136	.	ENSP00000265735:W100X	W	-	3	0	SGCE	94095540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	TGG		0.393	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			37	133	0	0	0	1	0	37	133					T	94257604	C	T	94257604	4	4	79	1	0	0	0	0	0	1	0	0	14252	740	26	2	1201	2	SGCE	7	94257604	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29511	94257604	64881059	8564	18881											
PEG10	23089	broad.mit.edu	37	chr7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccagtaccacgagggcCtcagcgaccacattcaggag	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	210	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(628-630)Ctc>Ttc		paternally expressed 10							115	122	119					7																	94293496		2097	4213	6310	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293496C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.628C>T	7.37:g.94293496C>T	ENSP00000417587:p.Leu210Phe					PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1107	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		210			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.628C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822762	0.71028	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.44881	0.91;0.91	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.31822	N	0.625821	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68788	-0.5316	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:1.0:0.0:0.0	.	286;210	B4DSP0;Q86TG7	.;PEG10_HUMAN	F	210	ENSP00000417587:L210F;ENSP00000418944:L210F	ENSP00000417587:L210F	L	+	1	0	PEG10	94131432	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.473000	0.45145	2.276000	0.75962	0.555000	0.69702	CTC		0.572	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		143	668	0	0	0	1	0	143	668					T	94293496	C	T	94293496	3	4	79	1	0	0	0	0	1	0	0	0	11761	681	24	2	862	2	PEG10	7	94293496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35892	94293496	64845167	8565	18882											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactggattgaggcccaaaCattatgccacacagtgaatg	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000433881.1	+	9	2754	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	741	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGCCCAAACATTATGCCAC	0.393										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2221-2223)aCa>aAa		protein phosphatase 1, regulatory subunit 9A							95	86	89					7																	94879459		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879459C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2222C>A	7.37:g.94879459C>A	ENSP00000398870:p.Thr741Lys	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K	p.T741K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	2438	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		741			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2222C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243814	0.39697	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14640	2.49;2.53;2.51;2.53;2.51;2.51	5.22	3.29	0.37713	.	0.054644	0.64402	D	0.000001	T	0.27384	0.0672	L	0.47716	1.5	0.47698	D	0.999495	B;D;B;D;D	0.69078	0.201;0.964;0.302;0.997;0.968	B;P;B;P;P	0.61874	0.053;0.79;0.153;0.895;0.554	T	0.04454	-1.0950	10	0.42905	T	0.14	.	16.3956	0.83604	0.0:0.7534:0.2466:0.0	.	741;741;763;741;741	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	763;741;741;741;741;741	ENSP00000405514:T763K;ENSP00000344524:T741K;ENSP00000411342:T741K;ENSP00000398870:T741K;ENSP00000289495:T741K;ENSP00000402893:T741K	ENSP00000289495:T741K	T	+	2	0	PPP1R9A	94717395	1.000000	0.71417	0.739000	0.30968	0.019000	0.09904	4.778000	0.62368	1.568000	0.49683	-0.165000	0.13383	ACA		0.393	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		37	179	1	0	4.90274e-10	1	5.1822e-10	37	179					A	94879459	C	A	94879459	3	1	79	1	0	0	0	0	1	0	0	0	12425	478	17	3	2322	3	PPP1R9A	7	94879459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585963	94879459	64259204	8566	18883											
PPP1R9A	55607	broad.mit.edu	37	chr7	94903217	94903217	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtatatcctagatgatgCcaaagatcccaaatcactaa	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94903217C>A	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1044D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1022D|snoU13_ENST00000459298.1_RNA|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.A1004D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGATGATGCCAAAGATCCC	0.383										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(3010-3012)gCc>gAc		protein phosphatase 1, regulatory subunit 9A							60	54	56					7																	94903217		1568	3582	5150	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94903217C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+5198C>A	7.37:g.94903217C>A		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1044D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D	p.A1004D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	3227	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		789			Interacts with TGN38 (By similarity).|SAM.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3011C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602059	0.46423	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000289495;ENST00000456331	T;T;T;T	0.17054	2.48;2.49;2.3;2.49	4.57	2.69	0.31865	.	.	.	.	.	T	0.17408	0.0418	N	0.22421	0.69	0.26777	N	0.969673	D;B;B;B	0.60160	0.987;0.22;0.02;0.006	P;B;B;B	0.55391	0.775;0.101;0.012;0.005	T	0.08911	-1.0699	9	0.12430	T	0.62	.	9.8076	0.40803	0.2765:0.5896:0.1339:0.0	.	1004;1044;1022;1022	F8W7J9;E9PDX1;D6W5R0;E9PCK6	.;.;.;.	D	1044;1022;1004;1022	ENSP00000405514:A1044D;ENSP00000411342:A1022D;ENSP00000289495:A1004D;ENSP00000402893:A1022D	ENSP00000289495:A1004D	A	+	2	0	PPP1R9A	94741153	1.000000	0.71417	0.982000	0.44146	0.521000	0.34408	1.018000	0.30002	0.795000	0.33922	0.650000	0.86243	GCC		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		8	67	1	0	1.06961e-07	1	1.11297e-07	8	67					A	94903217	C	A	94903217	1	1	79	0	1	0	0	0	0	0	0	0	12425	739	26	3		3	PPP1R9A	7	94903217	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23758	94903217	64235446	8567	18884											
PON1	5444	broad.mit.edu	37	chr7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttttcttcttcttgaaaTttaaacaactccactgtgga	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	145					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(433-435)aaA>aaC		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						162	155	157					7																	94940825		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94940825T>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.435A>C	7.37:g.94940825T>G	ENSP00000222381:p.Lys145Asn					PON1_ENST00000542556.1_Missense_Mutation_p.K145N	p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	666	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		145					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.435A>C	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748396	0.49257	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.44482	0.92;0.92	4.64	1.07	0.20283	Six-bladed beta-propeller, TolB-like (1);	0.146914	0.64402	D	0.000015	T	0.38799	0.1054	M	0.73598	2.24	0.46298	D	0.998975	P;P	0.47191	0.891;0.826	B;B	0.39935	0.314;0.259	T	0.38112	-0.9676	10	0.72032	D	0.01	-24.5318	8.3656	0.32385	0.0:0.312:0.0:0.688	.	145;145	F5H4W9;P27169	.;PON1_HUMAN	N	145	ENSP00000222381:K145N;ENSP00000444854:K145N	ENSP00000222381:K145N	K	-	3	2	PON1	94778761	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.796000	0.26986	0.394000	0.25230	0.533000	0.62120	AAA		0.358	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		88	357	0	0	0	1	0	88	357					G	94940825	T	G	94940825	3	3	79	1	0	0	0	0	1	0	0	0	12290	1490	52	4	652	4	PON1	7	94940825	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37608	94940825	64197838	8568	18885											
PON2	5445	broad.mit.edu	37	chr7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatagaatgttctggatgCggagaacctattcaggggat	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000222572.3	-	9	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000536183.1_Missense_Mutation_p.R326H			Q15165	PON2_HUMAN	paraoxonase 2	305					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(976-978)cGc>cAc		paraoxonase 2							149	133	138					7																	95034793		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95034793C>T	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.914G>A	7.37:g.95034793C>T	ENSP00000222572:p.Arg305His					PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000222572.3_Missense_Mutation_p.R305H	p.R326H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1160	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		305					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.977G>A	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053052	0.75960	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.056799	0.64402	D	0.000001	T	0.58764	0.2145	M	0.87456	2.885	0.54753	D	0.999984	D;D	0.71674	0.998;0.998	P;P	0.52267	0.694;0.694	T	0.68360	-0.5429	10	0.59425	D	0.04	-3.9691	13.2264	0.59916	0.0:0.9234:0.0:0.0766	.	305;305	A4D1H7;Q15165	.;PON2_HUMAN	H	326;303;293;305	ENSP00000440282:R326H;ENSP00000404622:R293H;ENSP00000222572:R305H	ENSP00000222572:R305H	R	-	2	0	PON2	94872729	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.482000	0.66833	1.395000	0.46643	0.655000	0.94253	CGC		0.433	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		94	448	0	0	0	1	0	94	448					T	95034793	C	T	95034793	3	4	79	1	0	0	0	0	1	0	0	0	12291	768	27	1	154	1	PON2	7	95034793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93968	95034793	64103870	8569	18886											
ASB4	51666	broad.mit.edu	37	chr7	95157228	95157228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccttctacgtggaacaCggggccatagtggacagcgt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157228C>T	ENST00000325885.5	+	3	662	c.591C>T	c.(589-591)caC>caT	p.H197H	ASB4_ENST00000428113.1_Silent_p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	197					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACGTGGAACACGGGGCCATAG	0.607											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(589-591)caC>caT		ankyrin repeat and SOCS box containing 4							79	66	70					7																	95157228		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157228C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.591C>T	7.37:g.95157228C>T			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.H197H	p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	662	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		197					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.591C>T	CCDS5641.1																																																																																				0.607	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		7	279	0	0	0	1	0	7	279					T	95157228	C	T	95157228	2	4	79	1	0	0	0	0	0	0	0	1	1026	535	19	1		1	ASB4	7	95157228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122435	95157228	63981435	8570	18887											
ASB4	51666	broad.mit.edu	37	chr7	95157465	95157465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgctggaagctggcgcCgaagccaatctcatggatat	12	9	1	1	rs146416403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		21063	0.0		0.001	False		,,,				2504	0.0					ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(826-828)gcC>gcT		ankyrin repeat and SOCS box containing 4							79	60	66					7																	95157465		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157465C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.828C>T	7.37:g.95157465C>T			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.A276A	p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	899	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		276					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.828C>T	CCDS5641.1																																																																																				0.577	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		60	231	0	0	0	1	0	60	231					T	95157465	C	T	95157465	2	4	79	1	0	0	0	0	0	0	0	1	1026	639	23	1		1	ASB4	7	95157465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	95157465	63981198	8571	18888											
PDK4	5166	broad.mit.edu	37	chr7	95218952	95218952	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attattgtgaagtatcatacCttaaatagttcaaagagcat	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	257	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AGTATCATACCTTAAATAGTT	0.294																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.e7+1		pyruvate dehydrogenase kinase, isozyme 4							87	97	93					7																	95218952		2203	4296	6499	SO:0001630	splice_region_variant	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95218952C>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.771+1G>T	7.37:g.95218952C>A							p.K257_splice	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		7	968	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		257			Histidine kinase.			Splice_Site	SNP	ENST00000005178.5	37	c.771_splice	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058879	0.55325	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.55760	0.5	5.59	4.7	0.59300	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82959	-0.0198	9	.	.	.	.	16.1555	0.81664	0.1347:0.8653:0.0:0.0	.	257	Q16654	PDK4_HUMAN	N	257;221	ENSP00000005178:K257N	.	K	-	3	2	PDK4	95056888	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.818000	0.86416	1.482000	0.48325	-0.181000	0.13052	AAG		0.294	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	Missense_Mutation	10	479	1	0	1.11149e-13	1	1.20163e-13	10	479					A	95218952	C	A	95218952	5	1	79	1	0	0	0	0	0	0	1	0	11720	695	24	3	484	3	PDK4	7	95218952	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61487	95218952	63919711	8572	18889											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657489	95657489	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccttttccctgacagtcCtctgtgatgtcggtctgctt	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	341					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTGACAGTCCTCTGTGATGT	0.478																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1021-1023)tcC>tcA		dynein, cytoplasmic 1, intermediate chain 1							219	198	205					7																	95657489		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657489C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1023C>A	7.37:g.95657489C>A						DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000437599.1_Silent_p.S321S	p.S341S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		11	1216	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		341					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1023C>A	CCDS5644.1																																																																																				0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		181	761	1	0	9.03655e-77	1	1.15342e-76	181	761					A	95657489	C	A	95657489	2	1	79	1	0	0	0	0	0	0	0	1	4858	668	24	3		3	DYNC1I1	7	95657489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438537	95657489	63481174	8573	18890											
SHFM1	7979	broad.mit.edu	37	chr7	96324145	96324145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatcctctacattgtcAtcatcccaattatcctccca	2	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333								Homologous recombination																														ENST00000248566.2																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(133-135)gaT>gaC	Homologous recombination	split hand/foot malformation (ectrodactyly) type 1							180	177	178					7																	96324145		2203	4300	6503	SO:0001819	synonymous_variant	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96324145A>G	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"deleted in split-hand/foot 1"	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.135T>C	7.37:g.96324145A>G						SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN			2	262	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		45			Asp/Glu-rich (highly acidic).		Q13437|Q61067	Silent	SNP	ENST00000248566.2	37	c.135T>C	CCDS5646.1																																																																																				0.333	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304		114	420	0	0	0	1	0	114	420					G	96324145	A	G	96324145	2	3	79	1	0	0	0	0	0	0	0	1	14328	214	8	4		4	SHFM1	7	96324145	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	666656	96324145	62814518	8574	18891											
DLX6	1750	broad.mit.edu	37	chr7	96639182	96639182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtaatcctcatgagagCgaccccctccagggctcggc	12	15	1	1	rs371198246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	117					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17714	0.002		0.0	False		,,,				2504	0.0					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(703-705)agC>agT		distal-less homeobox 6		C		1,4199		0,1,2099	55	58	57		705	-5.5	0.7	7		57	1,8497		0,1,4248	no	coding-synonymous	DLX6	NM_005222.3		0,2,6347	TT,TC,CC		0.0118,0.0238,0.0158		235/294	96639182	2,12696	2100	4249	6349	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639182C>T		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.705C>T	7.37:g.96639182C>T						DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR	p.S235S			P56179	DLX6_HUMAN			3	1135	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		117					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.705C>T	CCDS47647.2																																																																																				0.567	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		89	283	0	0	0	1	0	89	283					T	96639182	C	T	96639182	2	4	79	1	0	0	0	0	0	0	0	1	4591	767	27	1		1	DLX6	7	96639182	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315037	96639182	62499481	8575	18892											
DLX6	1750	broad.mit.edu	37	chr7	96639212	96639212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcggcggccctgtcGccacgctcgccagcgctgcc	14	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	127					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCCCTGTCGCCACGCTCGC	0.577																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(733-735)tcG>tcA		distal-less homeobox 6							36	40	38					7																	96639212		2166	4274	6440	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639212G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.735G>A	7.37:g.96639212G>A						DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR	p.S245S			P56179	DLX6_HUMAN			3	1165	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		127					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.735G>A	CCDS47647.2																																																																																				0.577	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		63	233	0	0	0	1	0	63	233					A	96639212	G	A	96639212	2	1	79	1	0	0	0	0	0	0	0	1	4591	1074	38	1		1	DLX6	7	96639212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	96639212	62499451	8576	18893											
ASNS	440	broad.mit.edu	37	chr7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccttacctactgaagcaCgaactgttgtaatgtcataa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000394309.3	-	8	1490	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 9; AAA36781). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(1018-1020)cGt>cAt		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						67	66	66					7																	97486013		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97486013C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1019G>A	7.37:g.97486013C>T	ENSP00000377846:p.Arg340His					ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000394309.3_Missense_Mutation_p.R340H|ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H	p.R340H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			9	1547	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		340	TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781).		Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1019G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547255	0.86022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.87932	D	0	-7.2549	15.2252	0.73345	0.0:1.0:0.0:0.0	.	340	P08243	ASNS_HUMAN	H	340;340;257;340;319;257;319	ENSP00000175506:R340H;ENSP00000377846:R340H;ENSP00000414379:R257H;ENSP00000377845:R340H;ENSP00000414901:R319H;ENSP00000408472:R257H;ENSP00000406994:R319H	ENSP00000175506:R340H	R	-	2	0	ASNS	97323949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.756000	0.74919	2.368000	0.80403	0.555000	0.69702	CGT		0.303	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		71	273	0	0	0	1	0	71	273					T	97486013	C	T	97486013	3	4	79	1	0	0	0	0	1	0	0	0	1049	536	19	1	690	1	ASNS	7	97486013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846801	97486013	61652650	8577	18894											
ASNS	440	broad.mit.edu	37	chr7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactcgaattggctgcattCcaaacagcgggtcaactacc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000394309.3	-	3	644	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	58	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(172-174)gGa>gAa		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						87	76	80					7																	97498296		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498296C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.173G>A	7.37:g.97498296C>T	ENSP00000377846:p.Gly58Glu					ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000394309.3_Missense_Mutation_p.G58E|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000437628.1_Intron	p.G58E	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	701	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		58			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.173G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345652	0.82022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.57907	0.4;0.4;0.4;0.37;0.37;0.58	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.054876	0.64402	D	0.000001	T	0.82038	0.4950	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88657	0.3186	10	0.87932	D	0	-17.7657	13.4946	0.61416	0.0:1.0:0.0:0.0	.	58	P08243	ASNS_HUMAN	E	58;58;58;37;37;58;58;58;37	ENSP00000175506:G58E;ENSP00000377846:G58E;ENSP00000377845:G58E;ENSP00000414901:G37E;ENSP00000406994:G37E;ENSP00000400422:G58E	ENSP00000175506:G58E	G	-	2	0	ASNS	97336232	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	GGA		0.453	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		93	293	0	0	0	1	0	93	293					T	97498296	C	T	97498296	3	4	79	1	0	0	0	0	1	0	0	0	1049	855	30	2	1556	2	ASNS	7	97498296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12283	97498296	61640367	8578	18895											
ASNS	440	broad.mit.edu	37	chr7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtcaactaccgccaacCggtgaaatccaaagcagcag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000394309.3	-	3	617	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	49	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.|Glutamine binding. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(145-147)cGg>cAg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						75	64	67					7																	97498323		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498323C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.146G>A	7.37:g.97498323C>T	ENSP00000377846:p.Arg49Gln					ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000394309.3_Missense_Mutation_p.R49Q|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000437628.1_Intron	p.R49Q	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	674	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		49			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.146G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145453	0.77888	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.69806	-0.2;-0.2;-0.2;-0.43;-0.43;-0.36	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-13.7033	13.4946	0.61416	0.0:1.0:0.0:0.0	.	49	P08243	ASNS_HUMAN	Q	49;49;49;28;28;49;49;49;28	ENSP00000175506:R49Q;ENSP00000377846:R49Q;ENSP00000377845:R49Q;ENSP00000414901:R28Q;ENSP00000406994:R28Q;ENSP00000400422:R49Q	ENSP00000175506:R49Q	R	-	2	0	ASNS	97336259	1.000000	0.71417	0.984000	0.44739	0.425000	0.31504	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	CGG		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		72	262	0	0	0	1	0	72	262					T	97498323	C	T	97498323	3	4	79	1	0	0	0	0	1	0	0	0	1049	652	23	1	1583	1	ASNS	7	97498323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	97498323	61640340	8579	18896											
LMTK2	22853	broad.mit.edu	37	chr7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggctgctgacttacctgCggctgcagagccagcgggac	14	13	0	2	rs561329062		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACTTACCTGCGGCTGCAGAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		15375	0.001		0.0	False		,,,				2504	0.0					ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1231-1233)Cgg>Tgg		lemur tyrosine kinase 2							63	58	60					7																	97821008		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821008C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1231C>T	7.37:g.97821008C>T	ENSP00000297293:p.Arg411Trp						p.R411W	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1524	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		411					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1231C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936608	0.73442	.	.	ENSG00000164715	ENST00000297293	T	0.62788	-0.0	5.41	3.6	0.41247	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78059	-0.2352	10	0.48119	T	0.1	.	14.3855	0.66942	0.2686:0.7314:0.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	W	411	ENSP00000297293:R411W	ENSP00000297293:R411W	R	+	1	2	LMTK2	97658944	1.000000	0.71417	0.829000	0.32907	0.781000	0.44180	4.639000	0.61361	0.767000	0.33267	-0.127000	0.14921	CGG		0.537	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		39	211	0	0	0	1	0	39	211					T	97821008	C	T	97821008	3	4	79	1	0	0	0	0	1	0	0	0	8892	759	27	1	1273	1	LMTK2	7	97821008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322685	97821008	61317655	8580	18897											
LMTK2	22853	broad.mit.edu	37	chr7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccactttaagttccagtttgGataaccccaaagagtcagtc	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	674					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCCAGTTTGGATAACCCCAA	0.408																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2020-2022)Gat>Tat		lemur tyrosine kinase 2							78	87	84					7																	97821797		2202	4300	6502	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821797G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2020G>T	7.37:g.97821797G>T	ENSP00000297293:p.Asp674Tyr						p.D674Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2313	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		674					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2020G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172564	0.57584	.	.	ENSG00000164715	ENST00000297293	T	0.80393	-1.37	5.91	3.1	0.35709	.	0.619197	0.18351	N	0.143894	D	0.82820	0.5120	M	0.64997	1.995	0.09310	N	0.999999	D	0.58620	0.983	P	0.56865	0.808	T	0.72846	-0.4169	10	0.66056	D	0.02	.	6.1036	0.20061	0.2139:0.1357:0.6504:0.0	.	674	Q8IWU2	LMTK2_HUMAN	Y	674	ENSP00000297293:D674Y	ENSP00000297293:D674Y	D	+	1	0	LMTK2	97659733	0.984000	0.35163	0.009000	0.14445	0.988000	0.76386	2.183000	0.42565	0.384000	0.24942	0.655000	0.94253	GAT		0.408	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		179	645	1	0	6.55925e-89	1	8.4157e-89	179	645					T	97821797	G	T	97821797	3	4	79	1	0	0	0	0	1	0	0	0	8892	1174	41	3	2062	3	LMTK2	7	97821797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	789	97821797	61316866	8581	18898											
LMTK2	22853	broad.mit.edu	37	chr7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtggatgtccacgaagcgCtactggactctttaggatct	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1009					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGAAGCGCTACTGGACTC	0.587																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3025-3027)Cta>Ata		lemur tyrosine kinase 2							98	106	104					7																	97822802		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822802C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3025C>A	7.37:g.97822802C>A	ENSP00000297293:p.Leu1009Ile						p.L1009I	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3318	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1009					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3025C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036078	0.07497	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.03	-2.43	0.06522	.	0.495348	0.19662	N	0.108944	T	0.66396	0.2785	L	0.48362	1.52	0.09310	N	1	P	0.42456	0.78	B	0.40636	0.335	T	0.61476	-0.7055	10	0.16896	T	0.51	.	12.0446	0.53473	0.0:0.6114:0.0:0.3886	.	1009	Q8IWU2	LMTK2_HUMAN	I	1009	ENSP00000297293:L1009I	ENSP00000297293:L1009I	L	+	1	2	LMTK2	97660738	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.226000	0.17776	-0.627000	0.05589	-0.312000	0.09012	CTA		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		160	603	1	0	2.44665e-68	1	3.10229e-68	160	603					A	97822802	C	A	97822802	3	1	79	1	0	0	0	0	1	0	0	0	8892	796	28	3	3067	3	LMTK2	7	97822802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1005	97822802	61315861	8582	18899											
LMTK2	22853	broad.mit.edu	37	chr7	97823014	97823014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtcatctcagatgccggCgatggtcacagaggcacaga	12	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823014C>T	ENST00000297293.5	+	11	3530	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1079					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGATGCCGGCGATGGTCACA	0.617																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3235-3237)ggC>ggT		lemur tyrosine kinase 2							37	35	35					7																	97823014		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823014C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3237C>T	7.37:g.97823014C>T							p.G1079G	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3530	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1079					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3237C>T	CCDS5654.1																																																																																				0.617	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		5	187	0	0	0	1	0	5	187					T	97823014	C	T	97823014	2	4	79	1	0	0	0	0	0	0	0	1	8892	755	27	1		1	LMTK2	7	97823014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	97823014	61315649	8583	18900											
LMTK2	22853	broad.mit.edu	37	chr7	97823515	97823515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctgcgctggacaagtcCctgtccagccactccgaggg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1246					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGGACAAGTCCCTGTCCAGCC	0.602																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3736-3738)tcC>tcT		lemur tyrosine kinase 2							47	51	49					7																	97823515		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823515C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3738C>T	7.37:g.97823515C>T							p.S1246S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4031	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1246					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3738C>T	CCDS5654.1																																																																																				0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		42	175	0	0	0	1	0	42	175					T	97823515	C	T	97823515	2	4	79	1	0	0	0	0	0	0	0	1	8892	610	22	2		2	LMTK2	7	97823515	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501	97823515	61315148	8584	18901											
LMTK2	22853	broad.mit.edu	37	chr7	97823692	97823692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccttcaacctgcatagCctcagctccgagtcggagga	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1305					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCATAGCCTCAGCTCCG	0.632																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3913-3915)agC>agT		lemur tyrosine kinase 2							124	117	119					7																	97823692		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823692C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3915C>T	7.37:g.97823692C>T							p.S1305S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4208	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1305					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3915C>T	CCDS5654.1																																																																																				0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		50	457	0	0	0	1	0	50	457					T	97823692	C	T	97823692	2	4	79	1	0	0	0	0	0	0	0	1	8892	738	26	2		2	LMTK2	7	97823692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	97823692	61314971	8585	18902											
LMTK2	22853	broad.mit.edu	37	chr7	97832996	97832996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaggtgcatcaactcCgaaagctccaccgacgaaga	10	13	1	2	rs188760642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	ENST00000297293.5	+	12	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1406					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCATCAACTCCGAAAGCTCCA	0.532													C|||	3	0.000599042	0.0	0.0	5008	,	,		18129	0.002		0.001	False		,,,				2504	0.0					ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4216-4218)tcC>tcT		lemur tyrosine kinase 2		C		0,4406		0,0,2203	42	35	37		4218	-11.6	0	7		37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1406/1504	97832996	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97832996C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4218C>T	7.37:g.97832996C>T							p.S1406S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			12	4511	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1406					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.4218C>T	CCDS5654.1																																																																																				0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	206	0	0	0	1	0	7	206					T	97832996	C	T	97832996	2	4	79	1	0	0	0	0	0	0	0	1	8892	639	23	1		1	LMTK2	7	97832996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	97832996	61305667	8586	18903											
BHLHA15	168620	broad.mit.edu	37	chr7	97842100	97842100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcagcagcaggtggCtgggggtgcgttgggggcca	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000609256.1	+	2	605	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	160					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	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)										CAGCAGGTGGCTGGGGGTGCG	0.697																																						ENST00000314018.2																			0											c.(478-480)gCt>gAt		basic helix-loop-helix family, member a15							7	7	7					7																	97842100		2116	4161	6277	SO:0001583	missense	168620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:97842100C>A	BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"Basic helix-loop-helix proteins"	22265	protein-coding gene	gene with protein product		608606	"basic helix-loop-helix domain containing, class B, 8"	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.479C>A	7.37:g.97842100C>A	ENSP00000476312:p.Ala160Asp						p.A160D	NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN			1	535	+			160					A4D271|Q14DE4	Missense_Mutation	SNP	ENST00000609256.1	37	c.479C>A	CCDS5655.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453234	0.26161	.	.	ENSG00000180535	ENST00000314018	D	0.93426	-3.22	3.97	1.97	0.26223	Helix-loop-helix DNA-binding (1);	0.839557	0.10493	N	0.668215	D	0.84848	0.5563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72590	-0.4247	10	0.31617	T	0.26	.	4.19	0.10416	0.2277:0.6506:0.0:0.1216	.	160	Q7RTS1	BHA15_HUMAN	D	160	ENSP00000326391:A160D	ENSP00000326391:A160D	A	+	2	0	BHLHA15	97680036	0.630000	0.27155	0.002000	0.10522	0.002000	0.02628	1.264000	0.33015	1.038000	0.40049	-0.339000	0.08088	GCT		0.697	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472733.1	NM_177455		4	16	1	0	1.23904e-05	1	1.26975e-05	4	16					A	97842100	C	A	97842100	3	1	79	1	0	0	0	0	1	0	0	0	1421	797	28	3	481	3	BHLHA15	7	97842100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9104	97842100	61296563	8587	18904											
TECPR1	25851	broad.mit.edu	37	chr7	97858364	97858364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccttggaagcagccGcctccatagccgcctgtgta	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97858364G>A	ENST00000447648.2	-	16	2696	c.2397C>T	c.(2395-2397)ggC>ggT	p.G799G	TECPR1_ENST00000379795.3_Silent_p.G800G|TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	799					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAAGCAGCCGCCTCCATAGC	0.687																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2395-2397)ggC>ggT		tectonin beta-propeller repeat containing 1							14	18	17					7																	97858364		1927	4104	6031	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97858364G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2397C>T	7.37:g.97858364G>A						TECPR1_ENST00000379795.3_Silent_p.G800G|TECPR1_ENST00000542604.1_Silent_p.G729G	p.G799G			Q7Z6L1	TCPR1_HUMAN			16	2696	-			799					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.2397C>T	CCDS47648.1																																																																																				0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	46	0	0	0	1	0	6	46					A	97858364	G	A	97858364	2	1	79	1	0	0	0	0	0	0	0	1	15795	1074	38	1		1	TECPR1	7	97858364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16264	97858364	61280299	8588	18905											
TECPR1	25851	broad.mit.edu	37	chr7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggggtcgggcagctccTtggggtcatccttcgagggg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	185					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCAGCTCCTTGGGGTCATC	0.647																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(553-555)aAg>aGg		tectonin beta-propeller repeat containing 1							46	53	50					7																	97872882		2038	4196	6234	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97872882T>C		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.554A>G	7.37:g.97872882T>C	ENSP00000404923:p.Lys185Arg					TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R	p.K185R			Q7Z6L1	TCPR1_HUMAN			6	853	-			185					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.554A>G	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979333	0.34942	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30714	1.52;1.52;1.52	5.27	5.27	0.74061	.	0.526566	0.22848	N	0.054895	T	0.20047	0.0482	N	0.19112	0.55	0.25899	N	0.983377	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.12553	-1.0543	10	0.12430	T	0.62	-23.8156	14.4017	0.67050	0.0:0.0:0.0:1.0	.	106;185	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	185;185;106	ENSP00000404923:K185R;ENSP00000369121:K185R;ENSP00000441121:K106R	ENSP00000369121:K185R	K	-	2	0	TECPR1	97710818	0.375000	0.25089	0.980000	0.43619	0.924000	0.55760	1.915000	0.39976	2.001000	0.58596	0.533000	0.62120	AAG		0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		9	230	0	0	0	1	0	9	230					C	97872882	T	C	97872882	3	2	79	1	0	0	0	0	1	0	0	0	15795	1609	56	4	3027	4	TECPR1	7	97872882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14518	97872882	61265781	8589	18906											
TRRAP	8295	broad.mit.edu	37	chr7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcccattattgttgtttTaatgtatcaggtatgtgtat	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000359863.4	+	9	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	234					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(700-702)tTa>tCa		transformation/transcription domain-associated protein							166	160	162					7																	98497112		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98497112T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.701T>C	7.37:g.98497112T>C	ENSP00000352925:p.Leu234Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S	p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	910	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		234					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.701T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654112	0.67472	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03181	4.03;4.02	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.56097	D	0.000026	T	0.12689	0.0308	L	0.46567	1.45	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.08371	-1.0725	10	0.32370	T	0.25	.	15.5558	0.76192	0.0:0.0:0.0:1.0	.	234;234	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	S	234	ENSP00000352925:L234S;ENSP00000347733:L234S	ENSP00000347733:L234S	L	+	2	0	TRRAP	98335048	1.000000	0.71417	0.875000	0.34327	0.971000	0.66376	7.915000	0.87484	2.136000	0.66102	0.379000	0.24179	TTA		0.413	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		97	438	0	0	0	1	0	97	438					C	98497112	T	C	98497112	3	2	79	1	0	0	0	0	1	0	0	0	16654	1764	61	4	731	4	TRRAP	7	98497112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624230	98497112	60641551	8590	18907											
TRRAP	8295	broad.mit.edu	37	chr7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatgcttcctggtggccatGatgagcctggaggacaacaa	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000359863.4	+	22	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I|TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	974					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2920-2922)atG>atA		transformation/transcription domain-associated protein							175	139	151					7																	98522833		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522833G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2922G>A	7.37:g.98522833G>A	ENSP00000352925:p.Met974Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I|TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I	p.M974I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3131	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		974					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2922G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807794	0.70797	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02763	4.17;4.17	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31026	0.304;0.031;0.131	B;B;B	0.26517	0.07;0.026;0.044	T	0.52230	-0.8603	10	0.23891	T	0.37	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	974;688;974	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	974;974;972	ENSP00000352925:M974I;ENSP00000347733:M974I	ENSP00000347733:M974I	M	+	3	0	TRRAP	98360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.941000	0.99782	0.655000	0.94253	ATG		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		102	429	0	0	0	1	0	102	429					A	98522833	G	A	98522833	3	1	79	1	0	0	0	0	1	0	0	0	16654	1290	45	2	3004	2	TRRAP	7	98522833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25721	98522833	60615830	8591	18908											
TRRAP	8295	broad.mit.edu	37	chr7	98527811	98527811	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgatgttgcaagtatcatCctgggctccaaggagagggt	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98527811C>T	ENST00000359863.4	+	24	3584	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	TRRAP_ENST00000355540.3_Silent_p.I1125I|TRRAP_ENST00000446306.3_Silent_p.I1124I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1125					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTATCATCCTGGGCTCCA	0.448																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3373-3375)atC>atT		transformation/transcription domain-associated protein							76	76	76					7																	98527811		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98527811C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3375C>T	7.37:g.98527811C>T						TRRAP_ENST00000355540.3_Silent_p.I1125I|TRRAP_ENST00000446306.3_Silent_p.I1124I	p.I1125I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	3584	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1125					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.3375C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147083	0.21288	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.39	4.51	0.55191	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60464	-0.7258	4	.	.	.	.	10.7312	0.46098	0.0:0.8531:0.0:0.1469	.	.	.	.	F	840	.	.	S	+	2	0	TRRAP	98365747	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.593000	0.23999	1.410000	0.46936	0.491000	0.48974	TCC		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	352	0	0	0	1	0	9	352					T	98527811	C	T	98527811	2	4	79	1	0	0	0	0	0	0	0	1	16654	845	30	2		2	TRRAP	7	98527811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4978	98527811	60610852	8592	18909											
TRRAP	8295	broad.mit.edu	37	chr7	98535413	98535413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaggctcttcccaaattcCttcaatgataaattttgtga	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000359863.4	+	30	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_ENST00000355540.3_Silent_p.S1458S|TRRAP_ENST00000446306.3_Silent_p.S1457S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1458					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4372-4374)tcC>tcT		transformation/transcription domain-associated protein							60	48	52					7																	98535413		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535413C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4374C>T	7.37:g.98535413C>T						TRRAP_ENST00000355540.3_Silent_p.S1458S|TRRAP_ENST00000446306.3_Silent_p.S1457S	p.S1458S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4583	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1458					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4374C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256147	0.22965	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.08	3.11	0.35812	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.5057	0.27542	0.0:0.6585:0.1185:0.2229	.	.	.	.	L	1173	.	.	P	+	2	0	TRRAP	98373349	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.394000	0.20834	0.837000	0.34925	-0.345000	0.07892	CCT		0.368	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		47	179	0	0	0	1	0	47	179					T	98535413	C	T	98535413	2	4	79	1	0	0	0	0	0	0	0	1	16654	668	24	2		2	TRRAP	7	98535413	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7602	98535413	60603250	8593	18910											
TRRAP	8295	broad.mit.edu	37	chr7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaattttgtgatcagatgAtggtaagccaaatgcattta	8	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000359863.4	+	30	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4402-4404)Atg>Gtg		transformation/transcription domain-associated protein							47	39	42					7																	98535441		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535441A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4402A>G	7.37:g.98535441A>G	ENSP00000352925:p.Met1468Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V	p.M1468V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4611	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1468					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4402A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.10|18.10	3.547699|3.547699	0.65311|0.65311	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63417|.	-0.04;-0.04|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56804|.	0.2010|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26775|.	0.159;0.065;0.122|.	B;B;B|.	0.23018|.	0.043;0.016;0.029|.	T|.	0.52533|.	-0.8563|.	10|.	0.87932|.	D|.	0|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1468;1182;1468|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1468;1468;1466|1182	ENSP00000352925:M1468V;ENSP00000347733:M1468V|.	ENSP00000347733:M1468V|.	M|X	+|+	1|3	0|0	TRRAP|TRRAP	98373377|98373377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.224000|9.224000	0.95209|0.95209	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		41	155	0	0	0	1	0	41	155					G	98535441	A	G	98535441	3	3	79	1	0	0	0	0	1	0	0	0	16654	333	12	4	4516	4	TRRAP	7	98535441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	98535441	60603222	8594	18911											
TRRAP	8295	broad.mit.edu	37	chr7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctacctgctgcagtacgCcacgctgctggtggagcacg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000359863.4	+	39	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1836					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5506-5508)gCc>gAc		transformation/transcription domain-associated protein							109	89	95					7																	98550854		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98550854C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5507C>A	7.37:g.98550854C>A	ENSP00000352925:p.Ala1836Asp					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D	p.A1836D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	5716	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1836					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5507C>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891159|4.891159	0.91889|0.91889	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.055467|.	0.64402|.	D|.	0.000001|.	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40398|.	0.688;0.716;0.561|.	B;B;B|.	0.36030|.	0.216;0.116;0.116|.	T|T	0.70673|0.70673	-0.4807|-0.4807	10|5	0.66056|.	D|.	0.02|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1557;1836|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|T	1836;1818;1816|1558	ENSP00000352925:A1836D;ENSP00000347733:A1818D|.	ENSP00000347733:A1818D|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98388790|98388790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		63	251	1	0	1.44317e-28	1	1.68001e-28	63	251					A	98550854	C	A	98550854	3	1	79	1	0	0	0	0	1	0	0	0	16654	739	26	3	5599	3	TRRAP	7	98550854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15413	98550854	60587809	8595	18912											
TRRAP	8295	broad.mit.edu	37	chr7	98552800	98552800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccattctgaccccggCggtgccggccaggatggagg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552800C>T	ENST00000359863.4	+	40	5998	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1930					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGACCCCGGCGGTGCCGGCC	0.592																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5788-5790)gCg>gTg		transformation/transcription domain-associated protein							49	45	46					7																	98552800		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552800C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5789C>T	7.37:g.98552800C>T	ENSP00000352925:p.Ala1930Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V	p.A1930V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	5998	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1930					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5789C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203775|5.203775	0.95033|0.95033	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.51071|.	0.72;0.72|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72203|0.72203	0.3431|0.3431	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;B;B|.	0.61697|.	0.99;0.125;0.294|.	B;B;B|.	0.43623|.	0.425;0.033;0.033|.	T|T	0.68484|0.68484	-0.5396|-0.5396	10|5	0.15952|.	T|.	0.53|.	.|.	19.5376|19.5376	0.95260|0.95260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1912;1651;1930|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1930;1912;1910|1652	ENSP00000352925:A1930V;ENSP00000347733:A1912V|.	ENSP00000347733:A1912V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98390736|98390736	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	288	0	0	0	1	0	9	288					T	98552800	C	T	98552800	3	4	79	1	0	0	0	0	1	0	0	0	16654	768	27	1	5885	1	TRRAP	7	98552800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1946	98552800	60585863	8596	18913											
TRRAP	8295	broad.mit.edu	37	chr7	98552885	98552885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggggcacaccgtcccGcagctggtccacattctgca	13	14	1	0	rs143014711	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000359863.4	+	40	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_ENST00000355540.3_Silent_p.P1940P|TRRAP_ENST00000446306.3_Silent_p.P1939P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1958					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5872-5874)ccG>ccA		transformation/transcription domain-associated protein		G		1,4405	2.1+/-5.4	0,1,2202	44	38	40		5820	-11.1	0	7	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1940/3831	98552885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552885G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5874G>A	7.37:g.98552885G>A						TRRAP_ENST00000355540.3_Silent_p.P1940P|TRRAP_ENST00000446306.3_Silent_p.P1939P	p.P1958P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	6083	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1958					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5874G>A	CCDS59066.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.528	0.098067	0.08681	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58205	-0.7677	4	.	.	.	.	1.8097	0.03088	0.3324:0.1798:0.3146:0.1732	.	.	.	.	H	1680	.	.	R	+	2	0	TRRAP	98390821	0.000000	0.05858	0.027000	0.17364	0.630000	0.37929	-2.283000	0.01155	-5.225000	0.00019	-1.446000	0.01064	CGC		0.627	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		28	175	0	0	0	1	0	28	175					A	98552885	G	A	98552885	2	1	79	1	0	0	0	0	0	0	0	1	16654	1074	38	1		1	TRRAP	7	98552885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	98552885	60585778	8597	18914											
TRRAP	8295	broad.mit.edu	37	chr7	98562313	98562313	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctacatagacaggctgatCtccgtctttatgcgctccct	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000359863.4	+	47	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_ENST00000355540.3_Silent_p.I2272I|TRRAP_ENST00000446306.3_Silent_p.I2271I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2290	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6868-6870)atC>atT		transformation/transcription domain-associated protein							98	88	92					7																	98562313		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98562313C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6870C>T	7.37:g.98562313C>T						TRRAP_ENST00000355540.3_Silent_p.I2272I|TRRAP_ENST00000446306.3_Silent_p.I2271I	p.I2290I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		47	7079	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2290			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.6870C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253478	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	0.596	0.17496	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	.	5.1622	0.15068	0.1358:0.4366:0.0:0.4276	.	.	.	.	F	2012	.	.	S	+	2	0	TRRAP	98400249	0.993000	0.37304	0.990000	0.47175	0.494000	0.33585	0.338000	0.19858	0.246000	0.21394	-0.793000	0.03317	TCT		0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		88	315	0	0	0	1	0	88	315					T	98562313	C	T	98562313	2	4	79	1	0	0	0	0	0	0	0	1	16654	903	32	2		2	TRRAP	7	98562313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9428	98562313	60576350	8598	18915											
TRRAP	8295	broad.mit.edu	37	chr7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgacaactccatgaaaCgtcgtgtctacgagcgcttg	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000359863.4	+	50	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7402-7404)Cgt>Tgt		transformation/transcription domain-associated protein							89	75	80					7																	98565232		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98565232C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7402C>T	7.37:g.98565232C>T	ENSP00000352925:p.Arg2468Cys					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C	p.R2468C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7611	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2468					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7402C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537194	0.96460	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03386	3.95;3.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.88;0.932	T	0.00002	-1.2633	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2450;2189;2468	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2468;2450;2449	ENSP00000352925:R2468C;ENSP00000347733:R2450C	ENSP00000347733:R2450C	R	+	1	0	TRRAP	98403168	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	CGT		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	352	0	0	0	1	0	26	352					T	98565232	C	T	98565232	3	4	79	1	0	0	0	0	1	0	0	0	16654	536	19	1	7538	1	TRRAP	7	98565232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	98565232	60573431	8599	18916											
TRRAP	8295	broad.mit.edu	37	chr7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgacaaaaacacttTggcagatgccgtcgacaagt	10	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000359863.4	+	63	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3215	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAACACTTTGGCAGATGCC	0.507																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9643-9645)tTg>tCg		transformation/transcription domain-associated protein							111	102	105					7																	98588118		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588118T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9644T>C	7.37:g.98588118T>C	ENSP00000352925:p.Leu3215Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S	p.L3215S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		63	9853	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3215			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9644T>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.764004|4.764004	0.89932|0.89932	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.04275|.	3.66;3.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.84656|0.84656	0.5520|0.5520	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.76071|.	0.987;0.944;0.944|.	D|D	0.88106|0.88106	0.2822|0.2822	10|5	0.87932|.	D|.	0|.	.|.	15.9056|15.9056	0.79427|0.79427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3186;2925;3215|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|R	3215;3186;3185|2926	ENSP00000352925:L3215S;ENSP00000347733:L3186S|.	ENSP00000347733:L3186S|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98426054|98426054	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	TTG|TGG		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		87	352	0	0	0	1	0	87	352					C	98588118	T	C	98588118	3	2	79	1	0	0	0	0	1	0	0	0	16654	1821	63	4	9799	4	TRRAP	7	98588118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22886	98588118	60550545	8600	18917											
TRRAP	8295	broad.mit.edu	37	chr7	98592299	98592299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatgctaaaatcaccccCcacactctcaattttgtgaa	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000359863.4	+	66	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_ENST00000355540.3_Silent_p.P3336P|TRRAP_ENST00000446306.3_Silent_p.P3354P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3365					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10093-10095)ccC>ccT		transformation/transcription domain-associated protein							194	185	188					7																	98592299		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592299C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10095C>T	7.37:g.98592299C>T						TRRAP_ENST00000355540.3_Silent_p.P3336P|TRRAP_ENST00000446306.3_Silent_p.P3354P	p.P3365P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10304	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3365					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.10095C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957124	0.18507	.	.	ENSG00000196367	ENST00000456197	T	0.03124	4.04	5.05	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	7	0.49607	T	0.09	.	1.4586	0.02391	0.1617:0.2501:0.2958:0.2925	.	.	.	.	L	3094	ENSP00000394645:P3094L	ENSP00000394645:P3094L	P	+	2	0	TRRAP	98430235	0.000000	0.05858	0.884000	0.34674	0.963000	0.63663	-2.000000	0.01466	-1.255000	0.02481	0.462000	0.41574	CCC		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		260	1043	0	0	0	1	0	260	1043					T	98592299	C	T	98592299	2	4	79	1	0	0	0	0	0	0	0	1	16654	610	22	2		2	TRRAP	7	98592299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4181	98592299	60546364	8601	18918											
TRRAP	8295	broad.mit.edu	37	chr7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtctctggcccggcgggCgcaggccactgcacaagacc	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10210-10212)gCg>gTg		transformation/transcription domain-associated protein							101	109	106					7																	98592415		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592415C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10211C>T	7.37:g.98592415C>T	ENSP00000352925:p.Ala3404Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V	p.A3404V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10420	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3404					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10211C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		170	898	0	0	0	1	0	170	898					T	98592415	C	T	98592415	3	4	79	1	0	0	0	0	1	0	0	0	16654	768	27	1	10378	1	TRRAP	7	98592415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	98592415	60546248	8602	18919											
ARPC1A	10552	broad.mit.edu	37	chr7	98946483	98946483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctcataggtgggtgaGcaagcacattaaaaagccga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98946483G>A	ENST00000262942.5	+	5	525	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.S87N	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	134					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGGGTGAGCAAGCACATT	0.463																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(259-261)aGc>aAc		actin related protein 2/3 complex, subunit 1A, 41kDa							128	109	116					7																	98946483		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98946483G>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.401G>A	7.37:g.98946483G>A	ENSP00000262942:p.Ser134Asn					ARPC1A_ENST00000262942.5_Missense_Mutation_p.S134N	p.S87N			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	721	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		134					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.260G>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056792	0.76074	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66460	-0.21;-0.21	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.68943	0.961;0.95	D	0.90208	0.4262	10	0.56958	D	0.05	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	129;134	Q53GB6;Q92747	.;ARC1A_HUMAN	N	87;134	ENSP00000408578:S87N;ENSP00000262942:S134N	ENSP00000262942:S134N	S	+	2	0	ARPC1A	98784419	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.835000	0.99442	2.646000	0.89796	0.591000	0.81541	AGC		0.463	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		13	349	0	0	0	1	0	13	349					A	98946483	G	A	98946483	3	1	79	1	0	0	0	0	1	0	0	0	970	971	34	2	415	2	ARPC1A	7	98946483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354068	98946483	60192180	8603	18920											
CPSF4	10898	broad.mit.edu	37	chr7	99047943	99047943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcctgcacatcgaccccGagtccaagatcaaggactgt	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99047943G>A	ENST00000292476.5	+	4	362	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.E118K|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	118					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATCGACCCCGAGTCCAAGAT	0.622																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(352-354)Gag>Aag		cleavage and polyadenylation specific factor 4, 30kDa							84	68	74					7																	99047943		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99047943G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.352G>A	7.37:g.99047943G>A	ENSP00000292476:p.Glu118Lys					PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.E118K|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K	p.E118K	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			4	513	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		118					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.352G>A	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548760	0.96488	.	.	ENSG00000160917	ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T	0.32023	1.94;1.85;1.5;1.9;1.47	5.93	5.93	0.95920	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.49571	1.57	0.80722	D	1	D;D;D;D	0.64830	0.994;0.976;0.96;0.979	P;P;P;P	0.55011	0.598;0.703;0.508;0.766	T	0.03717	-1.1010	10	0.22109	T	0.4	-22.6792	20.3409	0.98764	0.0:0.0:1.0:0.0	.	65;118;118;118	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	K	118;118;65;65;85	ENSP00000395311:E118K;ENSP00000292476:E118K;ENSP00000402224:E65K;ENSP00000401150:E65K;ENSP00000392584:E85K	ENSP00000292476:E118K	E	+	1	0	CPSF4	98885879	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GAG		0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			31	154	0	0	0	1	0	31	154					A	99047943	G	A	99047943	3	1	79	1	0	0	0	0	1	0	0	0	3837	1059	37	1	366	1	CPSF4	7	99047943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101460	99047943	60090720	8604	18921											
CPSF4	10898	broad.mit.edu	37	chr7	99051675	99051675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcagcagagaaccccGcaggtcatcggggtcatgca	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99051675G>A	ENST00000292476.5	+	7	667	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Silent_p.P194P|CPSF4_ENST00000441580.1_Silent_p.P141P			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGAACCCCGCAGGTCATCG	0.557																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(580-582)ccG>ccA		cleavage and polyadenylation specific factor 4, 30kDa							146	160	155					7																	99051675		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051675G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.657G>A	7.37:g.99051675G>A						PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|CPSF4_ENST00000292476.5_Silent_p.P219P|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Silent_p.P141P	p.P194P	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	743	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		219					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.582G>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.591459|1.591459	0.28357|0.28357	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000452047	.|T	.|0.32515	.|1.45	5.67|5.67	-1.46|-1.46	0.08800|0.08800	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16541|0.16541	-1.0399|-1.0399	4|6	.|0.15952	.|T	.|0.53	-14.7418|-14.7418	4.8814|4.8814	0.13681|0.13681	0.4929:0.0963:0.3203:0.0905|0.4929:0.0963:0.3203:0.0905	.|.	.|.	.|.	.|.	T|H	101|130	.|ENSP00000392584:R130H	.|ENSP00000392584:R130H	A|R	+|+	1|2	0|0	CPSF4|CPSF4	98889611|98889611	0.081000|0.081000	0.21417|0.21417	0.953000|0.953000	0.39169|0.39169	0.788000|0.788000	0.44548|0.44548	-0.013000|-0.013000	0.12678|0.12678	-0.642000|-0.642000	0.05480|0.05480	-1.731000|-1.731000	0.00696|0.00696	GCA|CGC		0.557	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			240	858	0	0	0	1	0	240	858					A	99051675	G	A	99051675	2	1	79	1	0	0	0	0	0	0	0	1	3837	1074	38	1		1	CPSF4	7	99051675	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3732	99051675	60086988	8605	18922											
ZNF394	84124	broad.mit.edu	37	chr7	99097579	99097579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgggctcccaacttccGggtgagtcttcctccacttt	9	13	1	1	rs142631169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000337673.6	-	1	341	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	46					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18302	0.0		0.001	False		,,,				2504	0.0				Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(136-138)ccC>ccT		zinc finger protein 394							51	52	52					7																	99097579		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097579G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.138C>T	7.37:g.99097579G>A						ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	p.P46P	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	341	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		46					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.138C>T	CCDS5666.1																																																																																				0.637	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		70	320	0	0	0	1	0	70	320					A	99097579	G	A	99097579	2	1	79	1	0	0	0	0	0	0	0	1	17933	1103	39	1		1	ZNF394	7	99097579	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45904	99097579	60041084	8606	18923											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103950	99103950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctggagctgctggtgCtggagcagttcctgaccatc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(283-285)Ctg>Ttg		zinc finger with KRAB and SCAN domains 5							79	80	79					7																	99103950		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99103950C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.283C>T	7.37:g.99103950C>T						ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			2	534	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		95			SCAN box.		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.283C>T	CCDS5667.1																																																																																				0.597	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		99	440	0	0	0	1	0	99	440					T	99103950	C	T	99103950	2	4	79	1	0	0	0	0	0	0	0	1	17743	796	28	2		2	ZKSCAN5	7	99103950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6371	99103950	60034713	8607	18924											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123455	99123455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgagtccagggacaaTatggagctcatagtgaagca	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	264	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(790-792)aaT>aaC		zinc finger with KRAB and SCAN domains 5							91	95	93					7																	99123455		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123455T>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.792T>C	7.37:g.99123455T>C						ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1043	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		264			KRAB.		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.792T>C	CCDS5667.1																																																																																				0.423	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		125	478	0	0	0	1	0	125	478					C	99123455	T	C	99123455	2	2	79	1	0	0	0	0	0	0	0	1	17743	1403	49	4		4	ZKSCAN5	7	99123455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19505	99123455	60015208	8608	18925											
FAM200A	221786	broad.mit.edu	37	chr7	99146025	99146025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtatcccttgattcaggAgtcattattcaggttccagg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	2						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468																																						ENST00000449309.1																			0				endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						c.(4-6)acT>acC		family with sequence similarity 200, member A							61	63	62					7																	99146025		2188	4297	6485	SO:0001819	synonymous_variant	221786					integral to membrane	nucleic acid binding	g.chr7:99146025A>G		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.6T>C	7.37:g.99146025A>G							p.T2T	NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN			2	385	-			2					A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	c.6T>C	CCDS5668.1																																																																																				0.468	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		56	206	0	0	0	1	0	56	206					G	99146025	A	G	99146025	2	3	79	1	0	0	0	0	0	0	0	1	5557	291	11	4		4	FAM200A	7	99146025	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22570	99146025	59992638	8609	18926											
ZNF655	79027	broad.mit.edu	37	chr7	99170087	99170087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaggcaaataacaatcaGcaaggaaaccttcaccagtg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99170087G>A	ENST00000394163.2	+	3	539	c.356G>A	c.(355-357)aGc>aAc	p.S119N	ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.S154N|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	119					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAACAATCAGCAAGGAAACC	0.388																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(460-462)aGc>aAc		zinc finger protein 655							80	77	78					7																	99170087		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170087G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.356G>A	7.37:g.99170087G>A	ENSP00000377718:p.Ser119Asn					ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|ZNF655_ENST00000394163.2_Missense_Mutation_p.S119N|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N	p.S154N	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	681	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		119					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.461G>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584003	0.28268	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.30714	3.45;3.4;1.52;3.4;3.45	4.32	3.43	0.39272	.	0.362607	0.24067	N	0.041860	T	0.30166	0.0756	L	0.54323	1.7	0.80722	D	1	B;B	0.30973	0.302;0.201	B;B	0.36186	0.219;0.055	T	0.17930	-1.0353	10	0.72032	D	0.01	-1.7955	7.7222	0.28740	0.0:0.1797:0.6344:0.1859	.	154;119	Q8N720-3;Q8N720	.;ZN655_HUMAN	N	119;154;154;154;119	ENSP00000252713:S119N;ENSP00000419135:S154N;ENSP00000389260:S154N;ENSP00000393876:S154N;ENSP00000377718:S119N	ENSP00000252713:S119N	S	+	2	0	ZNF655	99008023	0.027000	0.19231	1.000000	0.80357	0.936000	0.57629	1.530000	0.36007	1.409000	0.46915	0.650000	0.86243	AGC		0.388	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		67	356	0	0	0	1	0	67	356					A	99170087	G	A	99170087	3	1	79	1	0	0	0	0	1	0	0	0	18121	971	34	2	893	2	ZNF655	7	99170087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24062	99170087	59968576	8610	18927											
ZNF498	221785	broad.mit.edu	37	chr7	99227162	99227162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtgggaagggctttaCcctgagagaatacctgatga	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227162C>A	ENST00000394152.2	+	8	1481	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T385N|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T313N|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	385					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)										AAGGGCTTTACCCTGAGAGAA	0.552																																						ENST00000394152.2																			0											c.(1153-1155)aCc>aAc		zinc finger and SCAN domain containing 25							79	75	76					7																	99227162		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227162C>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1154C>A	7.37:g.99227162C>A	ENSP00000377708:p.Thr385Asn					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T313N|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T385N|ZSCAN25_ENST00000466948.1_Intron	p.T385N	NM_145115.2	NP_660090.2					8	1481	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1154C>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509861	0.27036	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.15603	2.41;2.41;2.41	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299373	0.24262	N	0.040068	T	0.11537	0.0281	L	0.38953	1.18	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.25759	0.063;0.043	T	0.24333	-1.0163	10	0.16420	T	0.52	-5.4068	10.2328	0.43264	0.0:0.6051:0.3949:0.0	.	313;385	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	N	385;385;313	ENSP00000377708:T385N;ENSP00000334800:T385N;ENSP00000262941:T313N	ENSP00000262941:T313N	T	+	2	0	ZNF498	99065098	0.000000	0.05858	0.070000	0.20053	0.992000	0.81027	-2.244000	0.01193	1.168000	0.42723	0.561000	0.74099	ACC		0.552	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		70	314	1	0	1.34568e-36	1	1.61182e-36	70	314					A	99227162	C	A	99227162	3	1	79	1	0	0	0	0	1	0	0	0	18000	507	18	3	1172	3	ZNF498	7	99227162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57075	99227162	59911501	8611	18928											
ZNF498	221785	broad.mit.edu	37	chr7	99227256	99227256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccttcagccagagacaCcacctggaggtgcaccagcg	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227256C>A	ENST00000394152.2	+	8	1575	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H416Q|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H344Q|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	416					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)										GCCAGAGACACCACCTGGAGG	0.602																																						ENST00000394152.2																			0											c.(1246-1248)caC>caA		zinc finger and SCAN domain containing 25							50	50	50					7																	99227256		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227256C>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1248C>A	7.37:g.99227256C>A	ENSP00000377708:p.His416Gln					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H344Q|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H416Q|ZSCAN25_ENST00000466948.1_Intron	p.H416Q	NM_145115.2	NP_660090.2					8	1575	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1248C>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179076	0.57692	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.00986	5.47;5.47;5.47	3.93	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000213	T	0.00998	0.0033	N	0.08118	0	0.32447	N	0.545993	P;D	0.53885	0.936;0.963	P;P	0.53185	0.72;0.624	T	0.58629	-0.7603	10	0.59425	D	0.04	-19.7878	7.1148	0.25411	0.0:0.6946:0.0:0.3054	.	344;416	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	Q	416;416;344	ENSP00000377708:H416Q;ENSP00000334800:H416Q;ENSP00000262941:H344Q	ENSP00000262941:H344Q	H	+	3	2	ZNF498	99065192	0.000000	0.05858	0.976000	0.42696	0.970000	0.65996	-1.318000	0.02705	0.305000	0.22832	0.561000	0.74099	CAC		0.602	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		53	191	1	0	1.21353e-23	1	1.38083e-23	53	191					A	99227256	C	A	99227256	3	1	79	1	0	0	0	0	1	0	0	0	18000	506	18	3	1266	3	ZNF498	7	99227256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	99227256	59911407	8612	18929											
ZNF498	221785	broad.mit.edu	37	chr7	99227349	99227349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgcaggcagcacctgcaGgtgcaccggaggacgcacac	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227349G>T	ENST00000394152.2	+	8	1668	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.Q447H|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.Q375H|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	447					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)										AGCACCTGCAGGTGCACCGGA	0.647																																						ENST00000394152.2																			0											c.(1339-1341)caG>caT		zinc finger and SCAN domain containing 25							42	45	44					7																	99227349		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227349G>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1341G>T	7.37:g.99227349G>T	ENSP00000377708:p.Gln447His					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.Q375H|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.Q447H|ZSCAN25_ENST00000466948.1_Intron	p.Q447H	NM_145115.2	NP_660090.2					8	1668	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1341G>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209253	0.58343	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.12569	2.67;2.67;2.67	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172297	0.28257	N	0.016008	T	0.18215	0.0437	L	0.44542	1.39	0.25696	N	0.98563	P;P	0.43885	0.785;0.82	P;P	0.49140	0.465;0.601	T	0.03017	-1.1082	10	0.66056	D	0.02	-16.1905	10.9024	0.47059	0.0:0.0:0.8108:0.1892	.	375;447	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	H	447;447;375	ENSP00000377708:Q447H;ENSP00000334800:Q447H;ENSP00000262941:Q375H	ENSP00000262941:Q375H	Q	+	3	2	ZNF498	99065285	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	0.462000	0.21956	1.164000	0.42652	0.561000	0.74099	CAG		0.647	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		74	243	1	0	6.72169e-28	1	7.80062e-28	74	243					T	99227349	G	T	99227349	3	4	79	1	0	0	0	0	1	0	0	0	18000	991	35	3	1359	3	ZNF498	7	99227349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	99227349	59911314	8613	18930											
CYP3A7	1551	broad.mit.edu	37	chr7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccaccatgtcaagaTactccaactgtagcacagta	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	355					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CATGTCAAGATACTCCAACTG	0.368																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1063-1065)tAt>tGt		cytochrome P450, family 3, subfamily A, polypeptide 7							124	111	116					7																	99306847		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99306847T>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1064A>G	7.37:g.99306847T>C	ENSP00000337450:p.Tyr355Cys						p.Y355C	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			11	1066	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		355					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1064A>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	12.29	1.894344	0.33442	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.76186	-1.0	3.46	3.46	0.39613	.	0.060024	0.64402	N	0.000002	D	0.91229	0.7236	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92453	0.5971	10	0.87932	D	0	.	10.1349	0.42701	0.0:0.0:0.0:1.0	.	355	P24462	CP3A7_HUMAN	C	355	ENSP00000337450:Y355C	ENSP00000292414:Y355C	Y	-	2	0	CYP3A7	99144783	1.000000	0.71417	0.714000	0.30535	0.045000	0.14185	7.649000	0.83500	1.335000	0.45486	0.254000	0.18369	TAT		0.368	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			31	301	0	0	0	1	0	31	301					C	99306847	T	C	99306847	3	2	79	1	0	0	0	0	1	0	0	0	4192	1406	49	4	459	4	CYP3A7	7	99306847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79498	99306847	59831816	8614	18931											
CYP3A7	1551	broad.mit.edu	37	chr7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgttttccacaaaggggtCttgtggattgttgagagagt	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	201					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACAAAGGGGTCTTGTGGATTG	0.428																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(601-603)Gac>Tac		cytochrome P450, family 3, subfamily A, polypeptide 7							180	170	174					7																	99313450		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99313450C>A	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.601G>T	7.37:g.99313450C>A	ENSP00000337450:p.Asp201Tyr						p.D201Y	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			7	603	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		201					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.601G>T	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739833	0.30865	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69435	-0.4	4.22	2.38	0.29361	.	0.155454	0.64402	D	0.000015	D	0.84808	0.5554	H	0.96015	3.755	0.46113	D	0.998871	D	0.89917	1.0	D	0.87578	0.998	D	0.84182	0.0440	10	0.72032	D	0.01	.	8.3536	0.32316	0.0:0.7975:0.0:0.2025	.	201	P24462	CP3A7_HUMAN	Y	201	ENSP00000337450:D201Y	ENSP00000292414:D201Y	D	-	1	0	CYP3A7	99151386	0.976000	0.34144	0.007000	0.13788	0.002000	0.02628	2.482000	0.45224	0.335000	0.23614	-0.266000	0.10368	GAC		0.428	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			162	561	1	0	3.76969e-91	1	4.84057e-91	162	561					A	99313450	C	A	99313450	3	1	79	1	0	0	0	0	1	0	0	0	4192	913	32	3	938	3	CYP3A7	7	99313450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6603	99313450	59825213	8615	18932											
CYP3A43	64816	broad.mit.edu	37	chr7	99454485	99454485	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttctttcaacagatgatCgactcccagaattccaaaga	6	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Silent_p.I276I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AACAGATGATCGACTCCCAGA	0.433																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(826-828)atC>atT		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						94	101	99					7																	99454485		2203	4300	6503	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99454485C>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.828C>T	7.37:g.99454485C>T						CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000222382.5_Silent_p.I276I	p.I276I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			9	931	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		276		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.828C>T	CCDS5676.1																																																																																				0.433	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			99	419	0	0	0	1	0	99	419					T	99454485	C	T	99454485	2	4	79	1	0	0	0	0	0	0	0	1	4190	874	31	1		1	CYP3A43	7	99454485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141035	99454485	59684178	8616	18933											
OR2AE1	81392	broad.mit.edu	37	chr7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagttggtagccatcttcaGgatgattgtggagacatgca	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(235-237)Ctg>Atg		olfactory receptor, family 2, subfamily AE, member 1							114	97	103					7																	99474422		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474422G>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.235C>A	7.37:g.99474422G>T	ENSP00000313936:p.Leu79Met						p.L79M	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	258	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		79					B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.235C>A	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473671	0.26423	.	.	ENSG00000244623	ENST00000316368	T	0.00397	7.57	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.189811	0.26082	N	0.026448	T	0.00241	0.0007	N	0.24115	0.695	0.30255	N	0.793721	B	0.22080	0.064	B	0.09377	0.004	T	0.42378	-0.9455	10	0.87932	D	0	.	13.5959	0.61988	0.0:0.0:1.0:0.0	.	79	Q8NHA4	O2AE1_HUMAN	M	79	ENSP00000313936:L79M	ENSP00000313936:L79M	L	-	1	2	OR2AE1	99312358	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	5.722000	0.68485	2.321000	0.78463	0.501000	0.49751	CTG		0.478	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			71	295	1	0	9.98788e-38	1	1.20066e-37	71	295					T	99474422	G	T	99474422	3	4	79	1	0	0	0	0	1	0	0	0	11025	991	35	3	740	3	OR2AE1	7	99474422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19937	99474422	59664241	8617	18934											
TRIM4	89122	broad.mit.edu	37	chr7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actccgtccacagcgctgtaGaaggagacattcccagtccc	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCGCTGTAGAAGGAGACAT	0.537																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1375-1377)ttC>ttA		tripartite motif containing 4							146	141	143					7																	99489912		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489912G>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1377C>A	7.37:g.99489912G>T	ENSP00000348216:p.Phe459Leu					TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	p.F459L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1506	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	459			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1377C>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609670	0.66558	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89343	-2.5;-2.5	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.92289	0.7554	M	0.90309	3.105	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.55087	0.656;0.768	D	0.91861	0.5499	9	0.87932	D	0	.	5.5083	0.16866	0.1527:0.0:0.8473:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	L	459;433;289	ENSP00000348216:F459L;ENSP00000275736:F433L	ENSP00000275736:F433L	F	-	3	2	TRIM4	99327848	1.000000	0.71417	0.919000	0.36401	0.878000	0.50629	1.115000	0.31209	1.806000	0.52798	0.655000	0.94253	TTC		0.537	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		183	796	1	0	3.08562e-96	1	3.96622e-96	183	796					T	99489912	G	T	99489912	3	4	79	1	0	0	0	0	1	0	0	0	16567	933	33	3	129	3	TRIM4	7	99489912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15490	99489912	59648751	8618	18935											
AZGP1	563	broad.mit.edu	37	chr7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcacatcaattttccCtgggtagaagtcgtaggcca	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(697-699)Ggg>Tgg		alpha-2-glycoprotein 1, zinc-binding							38	37	37					7																	99564826		2203	4295	6498	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564826C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.697G>T	7.37:g.99564826C>A	ENSP00000292401:p.Gly233Trp					AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	p.G233W	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN			4	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		233			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.697G>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017950	0.07681	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.14766	2.48	2.34	0.137	0.14787	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.824850	0.03891	U	0.278723	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.12016	-1.0564	10	0.87932	D	0	.	5.775	0.18273	0.0:0.4082:0.395:0.1968	.	233	P25311	ZA2G_HUMAN	W	233;83	ENSP00000292401:G233W	ENSP00000292401:G233W	G	-	1	0	AZGP1	99402762	0.000000	0.05858	0.080000	0.20451	0.126000	0.20510	-0.163000	0.09997	-0.146000	0.11274	-0.802000	0.03209	GGG		0.557	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		25	154	1	0	4.72057e-08	1	4.92026e-08	25	154					A	99564826	C	A	99564826	3	1	79	1	0	0	0	0	1	0	0	0	1240	681	24	3	203	3	AZGP1	7	99564826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74914	99564826	59573837	8619	18936											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggctgtcactctcctcGaagatctggagcgggaactg	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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)			CACTCTCCTCGAAGATCTGGA	0.577																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(361-363)Gaa>Aaa		zinc finger and SCAN domain containing 21							32	31	31					7																	99654990		2203	4299	6502	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.chr7:99654990G>A	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.361G>A	7.37:g.99654990G>A	ENSP00000292450:p.Glu121Lys					ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	p.E121K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	525	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		121			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.361G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419351	0.83559	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34314	N	0.004062	T	0.45935	0.1367	H	0.95745	3.715	0.39713	D	0.971369	P;D	0.89917	0.883;1.0	P;D	0.85130	0.574;0.997	T	0.63363	-0.6654	10	0.87932	D	0	.	15.6623	0.77197	0.0:0.0:1.0:0.0	.	121;121	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	121;121;121;121;96	ENSP00000441212:E121K;ENSP00000292450:E121K;ENSP00000390960:E121K;ENSP00000404207:E121K	ENSP00000292450:E121K	E	+	1	0	ZSCAN21	99492926	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	3.377000	0.52425	2.634000	0.89283	0.655000	0.94253	GAA		0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		60	196	0	0	0	1	0	60	196					A	99654990	G	A	99654990	3	1	79	1	0	0	0	0	1	0	0	0	18286	1059	37	1	363	1	ZSCAN21	7	99654990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90164	99654990	59483673	8620	18937											
ZNF3	7551	broad.mit.edu	37	chr7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaaggccttcccacactCattacattcatagggctttt	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433																																						ENST00000303915.6																			1	Substitution - Missense(1)	p.E232K(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(694-696)Gag>Aag		zinc finger protein 3							76	85	82					7																	99669413		2203	4300	6503	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669413C>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.694G>A	7.37:g.99669413C>T	ENSP00000415358:p.Glu232Lys					ZNF3_ENST00000424697.1_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	p.E232K			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1661	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	232					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.694G>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		82	337	0	0	0	1	0	82	337					T	99669413	C	T	99669413	3	4	79	1	0	0	0	0	1	0	0	0	17882	835	29	2	779	2	ZNF3	7	99669413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14423	99669413	59469250	8621	18938											
ZNF3	7551	broad.mit.edu	37	chr7	99669525	99669525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggggtctgtctcccacGgggagtctctgatgtgagat	14	8	3	2	rs189904128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000424697.1	-	6	888	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	194					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTCTCCCACGGGGAGTCTCT	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21510	0.0		0.0	False		,,,				2504	0.0					ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(580-582)ccC>ccT		zinc finger protein 3		G	,	0,4182		0,0,2091	95	100	98		,582	-3.6	0.9	7		98	1,8483		0,1,4241	no	intron,coding-synonymous	ZNF3	NM_017715.2,NM_032924.3	,	0,1,6332	AA,AG,GG		0.0118,0.0,0.0079	,	,194/447	99669525	1,12665	2091	4242	6333	SO:0001819	synonymous_variant	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669525G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.582C>T	7.37:g.99669525G>A						ZNF3_ENST00000424697.1_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Silent_p.P194P	p.P194P			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1549	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	194					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	c.582C>T	CCDS43619.1																																																																																				0.458	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		122	448	0	0	0	1	0	122	448					A	99669525	G	A	99669525	2	1	79	1	0	0	0	0	0	0	0	1	17882	1103	39	1		1	ZNF3	7	99669525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	99669525	59469138	8622	18939											
ZNF3	7551	broad.mit.edu	37	chr7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggggagttccccagcGgccttttcagactgacttct	10	14	2	2	rs199856343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000424697.1	-	6	722	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	139					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTTCCCCAGCGGCCTTTTCAG	0.478																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(415-417)cCg>cTg		zinc finger protein 3		G	,LEU/PRO	0,3662		0,0,1831	108	102	104		,416	3.4	1	7		104	4,8158		0,4,4077	yes	intron,missense	ZNF3	NM_017715.2,NM_032924.3	,98	0,4,5908	AA,AG,GG		0.049,0.0,0.0338	,benign	,139/447	99669691	4,11820	1831	4081	5912	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669691G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.416C>T	7.37:g.99669691G>A	ENSP00000415358:p.Pro139Leu					ZNF3_ENST00000424697.1_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	p.P139L			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1383	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	139					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.416C>T	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007373	0.02112	0.0	4.9E-4	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;5.18;5.32;5.32	4.58	3.43	0.39272	.	0.418084	0.20469	N	0.091721	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.38643	T	0.18	-8.6936	9.6919	0.40134	0.0:0.0:0.1853:0.8147	.	122;139	B3KRP4;P17036	.;ZNF3_HUMAN	L	139;139;139;103;139;139	ENSP00000415358:P139L;ENSP00000306372:P139L;ENSP00000299667:P139L;ENSP00000416088:P103L;ENSP00000405970:P139L;ENSP00000388042:P139L	ENSP00000299667:P139L	P	-	2	0	ZNF3	99507627	0.000000	0.05858	0.969000	0.41365	0.192000	0.23643	0.767000	0.26575	0.911000	0.36747	-0.500000	0.04577	CCG		0.478	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		108	507	0	0	0	1	0	108	507					A	99669691	G	A	99669691	3	1	79	1	0	0	0	0	1	0	0	0	17882	1116	39	1	1057	1	ZNF3	7	99669691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	99669691	59468972	8623	18940											
COPS6	10980	broad.mit.edu	37	chr7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgaacacctgataGcacagcacagcgccatcaag	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	223	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(667-669)Gca>Tca		COP9 signalosome subunit 6							212	196	201					7																	99688878		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688878G>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.667G>T	7.37:g.99688878G>T	ENSP00000304102:p.Ala223Ser					COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	p.A223S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		8	704	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		223			Interaction with Vpr.		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.667G>T	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657380	0.67586	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.56124	1.755	0.80722	D	1	P	0.41498	0.752	P	0.46452	0.517	T	0.19353	-1.0308	10	0.10377	T	0.69	-24.5327	15.6886	0.77430	0.0:0.0:1.0:0.0	.	223	Q7L5N1	CSN6_HUMAN	S	223;222	ENSP00000304102:A223S;ENSP00000400617:A222S	ENSP00000304102:A223S	A	+	1	0	COPS6	99526814	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.430000	0.90283	2.556000	0.86216	0.561000	0.74099	GCA		0.577	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		193	987	1	0	4.64646e-85	1	5.95425e-85	193	987					T	99688878	G	T	99688878	3	4	79	1	0	0	0	0	1	0	0	0	3746	971	34	3	697	3	COPS6	7	99688878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19187	99688878	59449785	8624	18941											
MCM7	4176	broad.mit.edu	37	chr7	99691794	99691794	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaatttgggcacttAccagagcagtggaaaggcgc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Splice_Site|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|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)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGGCACTTACCAGAGCAGT	0.587																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.e13+1		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						97	94	95					7																	99691794		2203	4300	6503	SO:0001630	splice_region_variant	4176				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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691794A>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1848+1T>A	7.37:g.99691794A>T						MCM7_ENST00000354230.3_Splice_Site|MCM7_ENST00000343023.6_Intron		NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			13	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Splice_Site	SNP	ENST00000303887.5	37		CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905618	0.33628	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.21	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.9138:0.0:0.0862:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99529730	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.466000	0.66731	2.193000	0.70182	0.459000	0.35465	.		0.587	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		Intron	103	533	0	0	0	1	0	103	533					T	99691794	A	T	99691794	5	4	79	1	0	0	0	0	0	0	1	0	9433	405	14	5	321	5	MCM7	7	99691794	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2916	99691794	59446869	8625	18942											
TAF6	6878	broad.mit.edu	37	chr7	99704934	99704934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttggagtccctggagCtggagggggactgtccccag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99704934C>A	ENST00000344095.4	-	15	2494	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000437822.2_Missense_Mutation_p.A694S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	657					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCTGGAGCTGGAGGGGGA	0.667																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1969-1971)Gct>Tct		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							28	35	33					7																	99704934		2200	4290	6490	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99704934C>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1969G>T	7.37:g.99704934C>A	ENSP00000344537:p.Ala657Ser					TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S	p.A657S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		657					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1969G>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699128	0.68501	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.52526	0.74;0.66;0.74;0.74;0.69	5.52	4.64	0.57946	.	0.000000	0.49305	D	0.000145	T	0.26629	0.0651	N	0.08118	0	0.27046	N	0.963891	B;B;B;B;B	0.30914	0.3;0.201;0.127;0.127;0.127	B;B;B;B;B	0.32211	0.067;0.142;0.039;0.039;0.067	T	0.15896	-1.0421	10	0.25106	T	0.35	-19.4876	10.343	0.43891	0.0:0.9118:0.0:0.0882	.	694;647;647;657;581	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	S	657;714;657;657;581;694	ENSP00000389575:A657S;ENSP00000419760:A714S;ENSP00000416396:A657S;ENSP00000344537:A657S;ENSP00000399982:A694S	ENSP00000344537:A657S	A	-	1	0	TAF6	99542870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.569000	0.49696	0.643000	0.83706	GCT		0.667	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		9	269	1	0	2.17888e-05	1	2.22852e-05	9	269					A	99704934	C	A	99704934	3	1	79	1	0	0	0	0	1	0	0	0	15582	797	28	3	68	3	TAF6	7	99704934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	99704934	59433729	8626	18943											
C7orf43	55262	broad.mit.edu	37	chr7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcatcacaaaacacgggCggtccaagcggacactgggc	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	367								p.R367H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557																																						ENST00000316937.3																			1	Substitution - Missense(1)	p.R367H(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1099-1101)cGc>cAc		chromosome 7 open reading frame 43							76	74	75					7																	99754149		2203	4300	6503	SO:0001583	missense	55262							g.chr7:99754149C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1100G>A	7.37:g.99754149C>T	ENSP00000324741:p.Arg367His					C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H	p.R367H	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			8	1285	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		367					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.1100G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833326	0.71258	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.55760	0.54;0.5;0.53	5.71	5.71	0.89125	.	0.071085	0.56097	D	0.000030	T	0.53997	0.1831	N	0.19112	0.55	0.45676	D	0.998596	D;D	0.69078	0.991;0.997	P;P	0.55391	0.662;0.775	T	0.59144	-0.7509	10	0.87932	D	0	-17.2422	17.3306	0.87262	0.0:1.0:0.0:0.0	.	135;367	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	98;367;135	ENSP00000396432:R98H;ENSP00000324741:R367H;ENSP00000406326:R135H	ENSP00000324741:R367H	R	-	2	0	C7orf43	99592085	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.133000	0.64764	2.702000	0.92279	0.561000	0.74099	CGC		0.557	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		40	139	0	0	0	1	0	40	139					T	99754149	C	T	99754149	3	4	79	1	0	0	0	0	1	0	0	0	2400	768	27	1	658	1	C7orf43	7	99754149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49215	99754149	59384514	8627	18944											
C7orf43	55262	broad.mit.edu	37	chr7	99754543	99754543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctccagggcattcagCgggcaggggaagcagccaga	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	306										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCATTCAGCGGGCAGGGGA	0.612																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(916-918)ccG>ccA		chromosome 7 open reading frame 43							56	67	63					7																	99754543		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99754543C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.918G>A	7.37:g.99754543C>T						C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000419841.1_Silent_p.P74P	p.P306P	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			6	1103	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		306					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.918G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965655	0.18583	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	-8.24	0.01029	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-6.2269	8.0696	0.30680	0.2449:0.5458:0.0:0.2093	.	.	.	.	T	212	.	.	A	-	1	0	C7orf43	99592479	0.002000	0.14202	0.911000	0.35937	0.837000	0.47467	-1.707000	0.01893	-0.841000	0.04200	-0.487000	0.04747	GCT		0.612	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		18	511	0	0	0	1	0	18	511					T	99754543	C	T	99754543	2	4	79	1	0	0	0	0	0	0	0	1	2400	755	27	1		1	C7orf43	7	99754543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	99754543	59384120	8628	18945											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagaaccaatgactcatCgaagtactcagccaccatga	7	13	2	3	rs201871972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000423751.1_Silent_p.S206S|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	308					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(922-924)Gat>Aat		galactose-3-O-sulfotransferase 4							102	95	97					7																	99758090		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758090C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.922G>A	7.37:g.99758090C>T	ENSP00000353142:p.Asp308Asn					GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000423751.1_Silent_p.S206S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N	p.D308N	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1314	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		308					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.922G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922195	0.92319	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.26518	1.73;1.73;1.73	4.82	4.82	0.62117	.	0.000000	0.85682	U	0.000000	T	0.51770	0.1694	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	T	0.55535	-0.8126	10	0.62326	D	0.03	-9.5784	15.4362	0.75149	0.0:1.0:0.0:0.0	.	246;308	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	308;308;246	ENSP00000400451:D308N;ENSP00000353142:D308N;ENSP00000398304:D246N	ENSP00000353142:D308N	D	-	1	0	GAL3ST4	99596026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.518000	0.84900	0.511000	0.50034	GAT		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		131	547	0	0	0	1	0	131	547					T	99758090	C	T	99758090	3	4	79	1	0	0	0	0	1	0	0	0	6228	884	31	1	542	1	GAL3ST4	7	99758090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3547	99758090	59380573	8629	18946											
STAG3	10734	broad.mit.edu	37	chr7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcctcctctatgatgGcttccctatggacgacctca	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	210					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTATGATGGCTTCCCTATG	0.542																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(628-630)gGc>gAc		stromal antigen 3							132	124	127					7																	99786553		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99786553G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.629G>A	7.37:g.99786553G>A	ENSP00000400359:p.Gly210Asp					STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	p.G210D			Q9UJ98	STAG3_HUMAN			7	1036	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		210					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.629G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748218	0.49257	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296;ENST00000439782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.31	4.35	0.52113	STAG (1);	0.389572	0.22016	N	0.065798	T	0.17874	0.0429	N	0.02865	-0.47	0.42558	D	0.993133	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.008	T	0.08597	-1.0714	10	0.38643	T	0.18	-14.851	6.3818	0.21540	0.1895:0.0:0.8105:0.0	.	152;210	B4DZ10;Q9UJ98	.;STAG3_HUMAN	D	210;152;210;152	ENSP00000400359:G210D;ENSP00000377586:G152D;ENSP00000319318:G210D;ENSP00000397067:G152D	ENSP00000319318:G210D	G	+	2	0	STAG3	99624489	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.081000	0.71309	2.765000	0.95021	0.555000	0.69702	GGC		0.542	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		127	453	0	0	0	1	0	127	453					A	99786553	G	A	99786553	3	1	79	1	0	0	0	0	1	0	0	0	15296	1203	42	2	651	2	STAG3	7	99786553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28463	99786553	59352110	8630	18947											
STAG3	10734	broad.mit.edu	37	chr7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggacctcttagattctacaGagctggatattgaggtgagt	12	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1219					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATTCTACAGAGCTGGATAT	0.493																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(3655-3657)Gag>Aag		stromal antigen 3							122	115	117					7																	99811415		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99811415G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3655G>A	7.37:g.99811415G>A	ENSP00000400359:p.Glu1219Lys					GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K|GATS_ENST00000436886.2_Intron	p.E1219K			Q9UJ98	STAG3_HUMAN			33	4062	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1219					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3655G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.576279	0.86645	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.0	5.0	0.66597	.	0.000000	0.39544	N	0.001340	T	0.45316	0.1336	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.16719	-1.0393	10	0.44086	T	0.13	-20.6421	13.9825	0.64313	0.0:0.0:1.0:0.0	.	1161;1220;1219	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1219;1161;882;240;1219;178	ENSP00000400359:E1219K;ENSP00000377586:E1161K;ENSP00000319318:E1219K;ENSP00000395039:E178K	ENSP00000319318:E1219K	E	+	1	0	STAG3	99649351	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.980000	0.56895	2.741000	0.93983	0.655000	0.94253	GAG		0.493	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		26	490	0	0	0	1	0	26	490					A	99811415	G	A	99811415	3	1	79	1	0	0	0	0	1	0	0	0	15296	943	33	2	3781	2	STAG3	7	99811415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24862	99811415	59327248	8631	18948											
SPDYE3	441272	broad.mit.edu	37	chr7	99909548	99909548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagcgacggcgagtgtcGctcgtgctccctgagtacta	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(718-720)tcG>tcA		speedy/RINGO cell cycle regulator family member E3							6	7	7					7																	99909548		1180	3211	4391	SO:0001819	synonymous_variant	441272							g.chr7:99909548G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.720G>A	7.37:g.99909548G>A						SPDYE3_ENST00000437326.2_5'UTR	p.S240S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			4	904	+			240					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.720G>A	CCDS47658.2																																																																																				0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		69	238	0	0	0	1	0	69	238					A	99909548	G	A	99909548	2	1	79	1	0	0	0	0	0	0	0	1	15082	1074	38	1		1	SPDYE3	7	99909548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98133	99909548	59229115	8632	18949											
PILRB	29990	broad.mit.edu	37	chr7	99957138	99957138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactgctgtgcctcctcctCctgtggtggaggagaaggaa	15	10	0	1	rs369458364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000452089.1	+	8	1692	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PILRB_ENST00000448382.1_Missense_Mutation_p.P264S|PILRB_ENST00000609309.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	211					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCCTCCTCCTGTGGTGGA	0.547																																						ENST00000444874.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(424-426)Cct>Tct		paired immunoglobin-like type 2 receptor beta		C		1,4403	2.1+/-5.4	0,1,2201	76	83	80		633		0.1	7		80	0,8600		0,0,4300	no	coding-synonymous	PILRB	NM_178238.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		211/228	99957138	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99957138C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.633C>T	7.37:g.99957138C>T						PILRB_ENST00000452089.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|PILRB_ENST00000310771.4_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S	p.P142S			Q9UKJ0	PILRB_HUMAN			16	2324	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		0			Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.424C>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506765	0.04231	2.27E-4	0.0	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	S	142;264	.	.	P	+	1	0	PILRB	99795074	0.095000	0.21747	0.062000	0.19696	0.007000	0.05969	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT		0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		58	242	0	0	0	1	0	58	242					T	99957138	C	T	99957138	2	4	79	1	0	0	0	0	0	0	0	1	11968	855	30	2		2	PILRB	7	99957138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47590	99957138	59181525	8633	18950											
PILRA	29992	broad.mit.edu	37	chr7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgccagcatttctgcagcCtagtgagtacccaggaccac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	21					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTGCAGCCTAGTGAGTAC	0.647																																						ENST00000198536.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(61-63)cCt>cAt		paired immunoglobin-like type 2 receptor alpha							57	62	60					7																	99971341		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971341C>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.62C>A	7.37:g.99971341C>A	ENSP00000198536:p.Pro21His					PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H	p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			1	274	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		21					Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.62C>A	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222284	0.39300	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23348	1.93;2.23;2.23;1.91;2.26	3.65	0.63	0.17693	Immunoglobulin-like (1);	1.274000	0.05643	N	0.583869	T	0.27594	0.0678	N	0.14661	0.345	0.09310	N	1	P;D;D;D;P	0.71674	0.553;0.994;0.986;0.998;0.688	B;P;P;P;B	0.61940	0.094;0.669;0.895;0.896;0.094	T	0.28490	-1.0042	9	.	.	.	.	5.8473	0.18673	0.3885:0.4221:0.1894:0.0	.	21;21;21;21;21	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	H	21	ENSP00000415111:P21H;ENSP00000198536:P21H;ENSP00000390026:P21H;ENSP00000377569:P21H;ENSP00000340109:P21H	.	P	+	2	0	PILRA	99809277	0.000000	0.05858	0.037000	0.18230	0.003000	0.03518	-0.635000	0.05471	0.123000	0.18342	0.313000	0.20887	CCT		0.647	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		82	423	1	0	6.88379e-33	1	8.14374e-33	82	423					A	99971341	C	A	99971341	3	1	79	1	0	0	0	0	1	0	0	0	11967	681	24	3	64	3	PILRA	7	99971341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14203	99971341	59167322	8634	18951											
ZCWPW1	55063	broad.mit.edu	37	chr7	100006173	100006173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctaccaggggtaaccGtattgcttggcccagatgat	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000398027.2	-	10	1225	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	326	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGTAACCGTATTGCTTGG	0.498																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(976-978)taC>taT		zinc finger, CW type with PWWP domain 1							153	148	149					7																	100006173		2004	4163	6167	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:100006173G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.978C>T	7.37:g.100006173G>A						ZCWPW1_ENST00000324725.6_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y	p.Y326Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			10	1225	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		326			PWWP.		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.978C>T	CCDS43623.1																																																																																				0.498	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		92	421	0	0	0	1	0	92	421					A	100006173	G	A	100006173	2	1	79	1	0	0	0	0	0	0	0	1	17650	1140	40	1		1	ZCWPW1	7	100006173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34832	100006173	59132490	8635	18952											
ZCWPW1	55063	broad.mit.edu	37	chr7	100006218	100006218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggatgtaggaggcataGgccacatcactctcaagccc	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000398027.2	-	10	1180	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000324725.6_Silent_p.A191A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	311							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGGCATAGGCCACATCAC	0.502																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(931-933)gcC>gcA		zinc finger, CW type with PWWP domain 1							157	153	154					7																	100006218		2025	4192	6217	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:100006218G>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.933C>A	7.37:g.100006218G>T						ZCWPW1_ENST00000324725.6_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000490721.1_Silent_p.A191A	p.A311A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			10	1180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		311					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.933C>A	CCDS43623.1																																																																																				0.502	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		104	366	1	0	1.39607e-43	1	1.70485e-43	104	366					T	100006218	G	T	100006218	2	4	79	1	0	0	0	0	0	0	0	1	17650	987	35	3		3	ZCWPW1	7	100006218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	100006218	59132445	8636	18953											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttcccaagacactgaAatctcttgagtatgtggtac	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000398027.2	-	7	754	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	169							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGACACTGAAATCTCTTGAG	0.418																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(505-507)atT>atG		zinc finger, CW type with PWWP domain 1							119	109	112					7																	100014052		1871	4112	5983	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014052A>C	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.507T>G	7.37:g.100014052A>C	ENSP00000381109:p.Ile169Met					ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M	p.I169M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			7	754	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		169					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.507T>G	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	A	7.804	0.714256	0.15306	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.56776	0.45;0.53;0.44;0.53	5.23	1.29	0.21616	.	0.774317	0.11398	N	0.568126	T	0.28830	0.0715	N	0.24115	0.695	0.09310	N	1	P;P;B;P;P	0.37441	0.506;0.595;0.264;0.595;0.525	B;B;B;B;B	0.33454	0.074;0.123;0.044;0.123;0.164	T	0.11012	-1.0605	9	.	.	.	-0.4614	1.3621	0.02194	0.5315:0.189:0.0982:0.1812	.	169;129;170;169;48	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	M	169;48;169;48;170	ENSP00000381109:I169M;ENSP00000419187:I48M;ENSP00000354210:I169M;ENSP00000314880:I48M	.	I	-	3	3	ZCWPW1	99851988	0.355000	0.24921	0.957000	0.39632	0.211000	0.24417	0.340000	0.19892	0.873000	0.35799	0.533000	0.62120	ATT		0.418	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		89	342	0	0	0	1	0	89	342					C	100014052	A	C	100014052	3	2	79	1	0	0	0	0	1	0	0	0	17650	10	1	4	1487	4	ZCWPW1	7	100014052	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7834	100014052	59124611	8637	18954											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017440	100017440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaggggagttagggctaCaaggtaacaggctgtaagat	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	ENST00000398027.2	-	4	342	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	32							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGGGCTACAAGGTAACAG	0.468																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(94-96)tGt>tAt		zinc finger, CW type with PWWP domain 1							99	90	93					7																	100017440		1839	4083	5922	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017440C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.95G>A	7.37:g.100017440C>T	ENSP00000381109:p.Cys32Tyr					ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000490721.1_5'UTR	p.C32Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			4	342	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		32					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.95G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.889789	0.00060	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.42131	1.0;0.98	4.94	-9.88	0.00467	.	2.370910	0.01566	N	0.020351	T	0.15609	0.0376	N	0.05078	-0.115	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.15037	-1.0451	9	.	.	.	13.2462	2.6278	0.04934	0.1665:0.3516:0.0936:0.3882	.	32;32;32;32	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	Y	32	ENSP00000381109:C32Y;ENSP00000354210:C32Y	.	C	-	2	0	ZCWPW1	99855376	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.939000	0.00684	-2.733000	0.00383	-0.824000	0.03097	TGT		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		28	418	0	0	0	1	0	28	418					T	100017440	C	T	100017440	3	4	79	1	0	0	0	0	1	0	0	0	17650	478	17	2	1911	2	ZCWPW1	7	100017440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3388	100017440	59121223	8638	18955											
MEPCE	56257	broad.mit.edu	37	chr7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagggaccaccaccgttCgaaagaggagctgcttccca	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	518	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCACCGTTCGAAAGAGGAG	0.632																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1552-1554)Cga>Tga		methylphosphate capping enzyme							36	33	34					7																	100029193		2203	4297	6500	SO:0001587	stop_gained	56257						methyltransferase activity	g.chr7:100029193C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1552C>T	7.37:g.100029193C>T	ENSP00000308546:p.Arg518*					MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*	p.R518*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1940	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		518			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Nonsense_Mutation	SNP	ENST00000310512.2	37	c.1552C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	49	15.828728	0.99846	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.48	2.6	0.31112	.	0.763190	0.12193	N	0.490961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0106	11.4875	0.50363	0.4749:0.5251:0.0:0.0	.	.	.	.	X	49;49;518	.	ENSP00000308546:R518X	R	+	1	2	MEPCE	99867129	0.000000	0.05858	0.033000	0.17914	0.786000	0.44442	0.673000	0.25203	0.246000	0.21394	0.561000	0.74099	CGA		0.632	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			45	218	0	0	0	1	0	45	218					T	100029193	C	T	100029193	4	4	79	1	0	0	0	0	0	1	0	0	9518	876	31	1	1554	1	MEPCE	7	100029193	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11753	100029193	59109470	8639	18956											
C7orf61	402573	broad.mit.edu	37	chr7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttaggatggtgctgaccttCcagctgcacatctgccagcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	TSC22D4_ENST00000496728.1_5'UTR|RN7SL161P_ENST00000582642.1_RNA	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	128						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592																																						ENST00000332375.3																			0				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						c.(382-384)tgG>tgA		chromosome 7 open reading frame 61							62	67	65					7																	100060989		2060	4207	6267	SO:0001587	stop_gained	402573							g.chr7:100060989C>T		CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.384G>A	7.37:g.100060989C>T	ENSP00000327732:p.Trp128*					TSC22D4_ENST00000496728.1_5'UTR	p.W128*	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN			2	629	-			128						Nonsense_Mutation	SNP	ENST00000332375.3	37	c.384G>A	CCDS47661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496895|2.496895	0.44352|0.44352	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	4.02|4.02	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.37715	.|N	.|0.001969	T|.	0.27489|.	0.0675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15122|.	-1.0448|.	4|.	.|0.02654	.|T	.|1	-0.0079|-0.0079	7.6939|7.6939	0.28583|0.28583	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	.|.	.|.	.|.	K|X	170|128	.|.	.|ENSP00000327732:W128X	E|W	-|-	1|3	0|0	C7orf61|C7orf61	99898925|99898925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	3.018000|3.018000	0.49625|0.49625	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.592	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	NM_001004323		106	394	0	0	0	1	0	106	394					T	100060989	C	T	100060989	4	4	79	1	0	0	0	0	0	1	0	0	2415	856	30	2	244	2	C7orf61	7	100060989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31796	100060989	59077674	8640	18957											
C7orf51	222950	broad.mit.edu	37	chr7	100086087	100086087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcccgacccctccagCgggcgccgactcggactctg	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100086087C>T	ENST00000300179.2	+	4	902	c.743C>T	c.(742-744)gCg>gTg	p.A248V	NYAP1_ENST00000454988.1_Missense_Mutation_p.A191V|NYAP1_ENST00000423930.1_Missense_Mutation_p.A248V	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	248					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCCCTCCAGCGGGCGCCGAC	0.652																																						ENST00000423930.1																			0											c.(742-744)gCg>gTg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							20	27	25					7																	100086087		2170	4262	6432	SO:0001583	missense	222950							g.chr7:100086087C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.743C>T	7.37:g.100086087C>T	ENSP00000300179:p.Ala248Val					NYAP1_ENST00000300179.2_Missense_Mutation_p.A248V|NYAP1_ENST00000454988.1_Missense_Mutation_p.A191V	p.A248V			Q6ZVC0	CG051_HUMAN			4	902	+			248					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.743C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323825	0.24080	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31769	1.48;1.48;1.48	4.62	3.74	0.42951	.	0.127728	0.35708	N	0.003035	T	0.18045	0.0433	L	0.34521	1.04	0.36204	D	0.850928	P;B	0.39601	0.68;0.049	B;B	0.27887	0.084;0.024	T	0.20240	-1.0281	10	0.33940	T	0.23	-3.4212	10.5394	0.45024	0.0:0.9046:0.0:0.0954	.	191;248	C9JS30;Q6ZVC0	.;CG051_HUMAN	V	248;248;191	ENSP00000300179:A248V;ENSP00000411861:A248V;ENSP00000394424:A191V	ENSP00000300179:A248V	A	+	2	0	C7orf51	99924023	0.102000	0.21896	0.818000	0.32626	0.562000	0.35680	2.131000	0.42074	1.170000	0.42753	0.407000	0.27541	GCG		0.652	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		11	428	0	0	0	1	0	11	428					T	100086087	C	T	100086087	3	4	79	1	0	0	0	0	1	0	0	0	2407	768	27	1	753	1	C7orf51	7	100086087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25098	100086087	59052576	8641	18958											
C7orf51	222950	broad.mit.edu	37	chr7	100091449	100091449	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcctccccagctggcggCggggacccgagccccgcaag	13	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100091449C>A	ENST00000300179.2	+	7	2608	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	NYAP1_ENST00000454988.1_Silent_p.R761R|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000423930.1_Silent_p.R818R	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	817					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CAGCTGGCGGCGGGGACCCGA	0.746																																						ENST00000423930.1																			0											c.(2452-2454)Cgg>Agg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							6	7	6					7																	100091449		2043	4075	6118	SO:0001819	synonymous_variant	222950							g.chr7:100091449C>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2449C>A	7.37:g.100091449C>A						NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000300179.2_Silent_p.R817R|NYAP1_ENST00000454988.1_Silent_p.R761R	p.R818R			Q6ZVC0	CG051_HUMAN			7	2611	+			817					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.2452C>A	CCDS5696.1																																																																																				0.746	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		10	69	1	0	1.58986e-06	1	1.64048e-06	10	69					A	100091449	C	A	100091449	2	1	79	1	0	0	0	0	0	0	0	1	2407	759	27	3		3	C7orf51	7	100091449	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5362	100091449	59047214	8642	18959											
AGFG2	3268	broad.mit.edu	37	chr7	100161557	100161557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccgctgttccccccGcagaccccgcttgttcagca	8	20	1	1	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	424	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTCCCCCCGCAGACCCCGC	0.602											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		19163	0.0		0.001	False		,,,				2504	0.0					ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1270-1272)ccG>ccA		ArfGAP with FG repeats 2		G		2,4404	4.2+/-10.8	0,2,2201	68	75	72		1272	-2.2	0	7	dbSNP_126	72	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	AGFG2	NM_006076.4		0,10,6493	AA,AG,GG		0.093,0.0454,0.0769		424/482	100161557	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161557G>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1272G>A	7.37:g.100161557G>A			OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.P424P	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			10	1394	+			424			Pro-rich.		O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1272G>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300818	0.01364	4.54E-4	9.3E-4	ENSG00000106351	ENST00000429987	.	.	.	4.34	-2.18	0.07037	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.24692	N	0.993301	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-47.8848	8.5987	0.33732	0.6053:0.0:0.3947:0.0	rs35771030	.	.	.	H	166	.	.	R	+	2	0	AGFG2	99999493	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.375000	0.02563	-0.607000	0.05738	-1.188000	0.01700	CGC		0.602	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		123	493	0	0	0	1	0	123	493					A	100161557	G	A	100161557	2	1	79	1	0	0	0	0	0	0	0	1	381	1074	38	1		1	AGFG2	7	100161557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70108	100161557	58977106	8643	18960											
LRCH4	4034	broad.mit.edu	37	chr7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccacaacagccctgaGccctggcttcaagaggctgg	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000310300.6	-	12	1364	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	438					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1312-1314)Ctc>Ttc		leucine-rich repeats and calponin homology (CH) domain containing 4							57	61	60					7																	100174761		2202	4300	6502	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100174761G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1312C>T	7.37:g.100174761G>A	ENSP00000309689:p.Leu438Phe					LRCH4_ENST00000497245.1_5'UTR	p.L438F	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			12	1364	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		438					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1312C>T	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	g	8.842	0.942492	0.18281	.	.	ENSG00000077454	ENST00000310300	T	0.33865	1.39	4.39	-5.68	0.02436	.	2.169780	0.01807	N	0.033258	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	P	0.34780	0.468	B	0.30646	0.118	T	0.10268	-1.0637	10	0.56958	D	0.05	0.0698	2.4963	0.04622	0.1237:0.1208:0.4011:0.3544	.	438	O75427	LRCH4_HUMAN	F	438	ENSP00000309689:L438F	ENSP00000309689:L438F	L	-	1	0	LRCH4	100012697	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.450000	0.06803	-1.113000	0.02981	-0.436000	0.05848	CTC		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		69	300	0	0	0	1	0	69	300					A	100174761	G	A	100174761	3	1	79	1	0	0	0	0	1	0	0	0	8973	971	34	2	767	2	LRCH4	7	100174761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13204	100174761	58963902	8644	18961											
FBXO24	26261	broad.mit.edu	37	chr7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagacgcatctgtcGcagactcagtccgcgcctcc	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	84					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(250-252)cGc>cAc		F-box protein 24							75	61	66					7																	100187909		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187909G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.251G>A	7.37:g.100187909G>A	ENSP00000241071:p.Arg84His					FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	p.R84H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			3	573	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		84					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.251G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428216	0.43122	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.69	1.76	0.24704	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.348956	0.22613	N	0.057818	T	0.28532	0.0706	L	0.39467	1.215	0.30175	N	0.800905	B;B;B;B	0.17268	0.008;0.021;0.008;0.017	B;B;B;B	0.15484	0.008;0.013;0.008;0.004	T	0.14559	-1.0468	10	0.40728	T	0.16	-6.8099	4.832	0.13445	0.1951:0.0:0.6348:0.1701	.	72;122;84;84	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	107;84;84;84;89;72;122	ENSP00000419587:R107H;ENSP00000241071:R84H;ENSP00000353821:R84H;ENSP00000419602:R84H;ENSP00000417179:R89H;ENSP00000420239:R72H;ENSP00000416558:R122H	ENSP00000241071:R84H	R	+	2	0	FBXO24	100025845	0.604000	0.26932	0.998000	0.56505	0.943000	0.58893	0.030000	0.13688	0.175000	0.19841	0.555000	0.69702	CGC		0.592	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			44	202	0	0	0	1	0	44	202					A	100187909	G	A	100187909	3	1	79	1	0	0	0	0	1	0	0	0	5760	1087	38	1	418	1	FBXO24	7	100187909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13148	100187909	58950754	8645	18962											
FBXO24	26261	broad.mit.edu	37	chr7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctatgttgtgttgtgtcGtggagccaaggatgtgagta	15	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	182					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(544-546)cGt>cAt		F-box protein 24							76	68	71					7																	100189512		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189512G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.545G>A	7.37:g.100189512G>A	ENSP00000241071:p.Arg182His					FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|PCOLCE-AS1_ENST00000442166.2_RNA	p.R182H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	867	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		182					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.545G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450584	0.63290	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50001	2.38;0.76;0.76;2.39;2.37	4.89	4.01	0.46588	.	0.099062	0.44902	D	0.000415	T	0.29556	0.0737	N	0.08118	0	0.33463	D	0.585146	P;D;P;D	0.57257	0.923;0.968;0.923;0.979	B;B;B;P	0.47786	0.247;0.354;0.247;0.557	T	0.35051	-0.9804	9	.	.	.	-10.6204	7.7322	0.28793	0.1875:0.0:0.8125:0.0	.	170;220;182;168	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	182;168;168;187;170;220	ENSP00000241071:R182H;ENSP00000353821:R168H;ENSP00000419602:R168H;ENSP00000420239:R170H;ENSP00000416558:R220H	.	R	+	2	0	FBXO24	100027448	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.124000	0.50461	1.296000	0.44742	0.558000	0.71614	CGT		0.552	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			79	364	0	0	0	1	0	79	364					A	100189512	G	A	100189512	3	1	79	1	0	0	0	0	1	0	0	0	5760	1145	40	1	716	1	FBXO24	7	100189512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1603	100189512	58949151	8646	18963											
FBXO24	26261	broad.mit.edu	37	chr7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccccagtttgcctcggAcccaaggtgtgacacagttt	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	190					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(568-570)gAc>gGc		F-box protein 24							49	47	48					7																	100190416		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190416A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.569A>G	7.37:g.100190416A>G	ENSP00000241071:p.Asp190Gly					FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G|FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|PCOLCE-AS1_ENST00000442166.2_RNA	p.D190G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	891	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		190					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.569A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386392	0.82902	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.63255	1.45;-0.03;-0.03;1.46;1.41	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.67078	0.2855	N	0.19112	0.55	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.71764	-0.4494	10	0.72032	D	0.01	-27.7735	14.0457	0.64704	1.0:0.0:0.0:0.0	.	178;228;190;176	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	G	190;176;176;178;228	ENSP00000241071:D190G;ENSP00000353821:D176G;ENSP00000419602:D176G;ENSP00000420239:D178G;ENSP00000416558:D228G	ENSP00000241071:D190G	D	+	2	0	FBXO24	100028352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.395000	0.66291	2.212000	0.71576	0.456000	0.33151	GAC		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			32	137	0	0	0	1	0	32	137					G	100190416	A	G	100190416	3	3	79	1	0	0	0	0	1	0	0	0	5760	275	10	4	744	4	FBXO24	7	100190416	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	904	100190416	58948247	8647	18964											
FBXO24	26261	broad.mit.edu	37	chr7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcccctgagacctaAtccccctcatgctagcctag	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	0					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1741-1743)taA>taC		F-box protein 24							34	35	35					7																	100198522		2202	4294	6496	SO:0001578	stop_lost	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198522A>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1743A>C	7.37:g.100198522A>C	ENSP00000241071:p.*581Tyrext*5					FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	p.*581Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			10	2065	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		0					A4D2D4|B4DX91|B4DY42|Q9H0G1	Nonstop_Mutation	SNP	ENST00000241071.6	37	c.1743A>C	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	3.521	-0.097685	0.07010	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2759	0.20981	0.8892:0.0:0.1108:0.0	.	.	.	.	Y	581;569;619	.	.	X	+	3	2	FBXO24	100036458	0.991000	0.36638	0.605000	0.28930	0.024000	0.10985	2.719000	0.47244	1.779000	0.52309	0.373000	0.22412	TAA		0.632	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			20	405	0	0	0	1	0	20	405					C	100198522	A	C	100198522	4	2	79	1	0	0	0	0	0	0	0	0	5760	108	4	4	1938	4	FBXO24	7	100198522	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8106	100198522	58940141	8648	18965											
PCOLCE	5118	broad.mit.edu	37	chr7	100201161	100201161	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcatctggaccataacGgtgagaaacccctctgggca	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	68	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.e2+1		procollagen C-endopeptidase enhancer							70	59	63					7																	100201161		2203	4300	6503	SO:0001630	splice_region_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201161G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.204+1G>A	7.37:g.100201161G>A						PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	p.T68_splice	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			2	484	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		68			CUB 1.		B2R9E1|O14550	Splice_Site	SNP	ENST00000223061.5	37	c.204_splice	CCDS5700.1																																																																																				0.592	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	Silent	21	176	0	0	0	1	0	21	176					A	100201161	G	A	100201161	5	1	79	1	0	0	0	0	0	0	1	0	11636	1130	39	1	210	1	PCOLCE	7	100201161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2639	100201161	58937502	8649	18966											
MOSPD3	64598	broad.mit.edu	37	chr7	100210480	100210480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgggcgggggtcccgGggcgcccctcctcccttggg	16	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731																																						ENST00000393950.2																			1	Substitution - coding silent(1)	p.R22R(1)	lung(1)	breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(64-66)cgG>cgA		motile sperm domain containing 3							14	17	16					7																	100210480		2114	4183	6297	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210480G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.66G>A	7.37:g.100210480G>A						MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R	p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	348	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		22					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.66G>A	CCDS5701.1																																																																																				0.731	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		68	240	0	0	0	1	0	68	240					A	100210480	G	A	100210480	2	1	79	1	0	0	0	0	0	0	0	1	9758	1219	43	2		2	MOSPD3	7	100210480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9319	100210480	58928183	8650	18967											
MOSPD3	64598	broad.mit.edu	37	chr7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacagcacctgccaaatAcacggtgtttgacgcagagg	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	77	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(229-231)tAc>tGc		motile sperm domain containing 3							231	203	212					7																	100210841		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210841A>G	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.230A>G	7.37:g.100210841A>G	ENSP00000377522:p.Tyr77Cys					MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C	p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			2	512	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		77			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.230A>G	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763357	0.69763	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.85	3.85	0.44370	PapD-like (2);	0.259259	0.26746	N	0.022719	D	0.82595	0.5071	L	0.61036	1.89	0.45216	D	0.998222	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.88	D	0.84133	0.0413	10	0.87932	D	0	-1.438	11.3049	0.49329	1.0:0.0:0.0:0.0	.	77;77	C9JE89;O75425	.;MSPD3_HUMAN	C	77;77;77;77;77;63	ENSP00000223054:Y77C;ENSP00000417276:Y77C;ENSP00000368842:Y77C;ENSP00000377522:Y77C;ENSP00000404626:Y77C	ENSP00000223054:Y77C	Y	+	2	0	MOSPD3	100048777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.788000	0.47806	1.994000	0.58287	0.374000	0.22700	TAC		0.582	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		199	775	0	0	0	1	0	199	775					G	100210841	A	G	100210841	3	3	79	1	0	0	0	0	1	0	0	0	9758	391	14	4	236	4	MOSPD3	7	100210841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	361	100210841	58927822	8651	18968											
GIGYF1	64599	broad.mit.edu	37	chr7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctccctcctcaaagCcacatcgtgctgggagacgg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	178					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(532-534)gGc>gAc		GRB10 interacting GYF protein 1							40	41	41					7																	100284433		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100284433C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.533G>A	7.37:g.100284433C>T	ENSP00000275732:p.Gly178Asp					GIGYF1_ENST00000471340.2_Intron	p.G178D	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1742	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		178					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.533G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570442	0.65765	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.06	0.47325	.	0.063561	0.64402	D	0.000008	D	0.84991	0.5595	M	0.65498	2.005	0.58432	D	0.999991	D	0.65815	0.995	P	0.53649	0.731	T	0.82372	-0.0490	10	0.19147	T	0.46	-22.4749	13.0391	0.58889	0.0:0.8368:0.1632:0.0	.	178	O75420	PERQ1_HUMAN	D	178	ENSP00000275732:G178D	ENSP00000275732:G178D	G	-	2	0	GIGYF1	100122369	0.148000	0.22702	0.996000	0.52242	0.870000	0.49936	1.120000	0.31271	1.288000	0.44600	0.563000	0.77884	GGC		0.647	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		56	279	0	0	0	1	0	56	279					T	100284433	C	T	100284433	3	4	79	1	0	0	0	0	1	0	0	0	6406	739	26	2	2646	2	GIGYF1	7	100284433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73592	100284433	58854230	8652	18969											
GIGYF1	64599	broad.mit.edu	37	chr7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttcccgggggcttcGtccaaaggccccatcgcctt	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	147					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(439-441)Cga>Tga		GRB10 interacting GYF protein 1							72	79	77					7																	100284964		2203	4300	6503	SO:0001587	stop_gained	64599							g.chr7:100284964G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.439C>T	7.37:g.100284964G>A	ENSP00000275732:p.Arg147*					GIGYF1_ENST00000471340.2_Intron	p.R147*	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			5	1648	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		147					Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	37	c.439C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	47	13.755068	0.99761	.	.	ENSG00000146830	ENST00000275732	.	.	.	5.21	2.19	0.27852	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0535	12.4892	0.55891	0.0:0.0:0.569:0.431	.	.	.	.	X	147	.	ENSP00000275732:R147X	R	-	1	2	GIGYF1	100122900	0.981000	0.34729	0.170000	0.22879	0.932000	0.56968	1.770000	0.38532	0.525000	0.28522	0.563000	0.77884	CGA		0.652	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		156	752	0	0	0	1	0	156	752					A	100284964	G	A	100284964	4	1	79	1	0	0	0	0	0	1	0	0	6406	1153	40	1	2748	1	GIGYF1	7	100284964	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	531	100284964	58853699	8653	18970											
EPO	2056	broad.mit.edu	37	chr7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgtacacaggggaGgcctgcaggacaggggacag	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	186					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACACAGGGGAGGCCTGCAGGA	0.582																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(556-558)gaG>gaT		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						88	89	89					7																	100320732		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320732G>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.558G>T	7.37:g.100320732G>T	ENSP00000252723:p.Glu186Asp						p.E186D	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	739	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		186					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.558G>T	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546256	0.45383	.	.	ENSG00000130427	ENST00000252723	T	0.50548	0.74	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.330168	0.29376	N	0.012328	T	0.47284	0.1437	L	0.52759	1.655	0.33214	D	0.553841	D;D	0.54601	0.967;0.967	P;P	0.48901	0.594;0.594	T	0.60485	-0.7254	10	0.46703	T	0.11	-12.7599	10.3495	0.43927	0.0957:0.0:0.9043:0.0	.	185;186	B7ZKK5;P01588	.;EPO_HUMAN	D	186	ENSP00000252723:E186D	ENSP00000252723:E186D	E	+	3	2	EPO	100158668	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.638000	0.37165	2.616000	0.88540	0.643000	0.83706	GAG		0.582	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		17	662	1	0	1.37522e-17	1	1.51956e-17	17	662					T	100320732	G	T	100320732	3	4	79	1	0	0	0	0	1	0	0	0	5206	991	35	3	576	3	EPO	7	100320732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35768	100320732	58817931	8654	18971											
ZAN	7455	broad.mit.edu	37	chr7	100352880	100352880	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatgcccgctacgaatcCtgtgcttgtcctgcttcgtg	9	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000348028.3	+	0	3321				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)				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)			GCTACGAATCCTGTGCTTGTC	0.567																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							136	142	140					7																	100352880		1958	4141	6099			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352880C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352880C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3304	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		186	833	0	0	0	1	0	186	833					T	100352880	C	T	100352880	1	4	79	0	1	0	0	0	0	0	0	0	17567	668	24	2		2	ZAN	7	100352880	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32148	100352880	58785783	8655	18972											
ZAN	7455	broad.mit.edu	37	chr7	100364868	100364868	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctcactgctcagaggCtgtaaggtcatggtgggtgt	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000348028.3	+	0	5013				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)				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)			TGCTCAGAGGCTGTAAGGTCA	0.607																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							48	48	48					7																	100364868		2136	4233	6369			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364868C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364868C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4996	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	169	0	0	0	1	0	35	169					T	100364868	C	T	100364868	1	4	79	0	1	0	0	0	0	0	0	0	17567	784	28	2		2	ZAN	7	100364868	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11988	100364868	58773795	8656	18973											
ZAN	7455	broad.mit.edu	37	chr7	100365518	100365518	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgaccataaggctcaGcagcaacctcgtcctcctct	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000348028.3	+	0	5090				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)				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)			ATAAGGCTCAGCAGCAACCTC	0.602																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							62	66	65					7																	100365518		2084	4210	6294			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365518G>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.100365518G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5073	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	26.0	4.696617	0.88830	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.51477	D	0.000082	T	0.76751	0.4031	M	0.84082	2.675	0.22754	N	0.998771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69658	-0.5086	10	0.66056	D	0.02	.	13.9911	0.64367	0.0:0.0:1.0:0.0	.	1642;1642	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1642;1642;1642;219	ENSP00000445943:S1642N;ENSP00000445091:S1642N;ENSP00000444427:S1642N;ENSP00000441117:S219N	ENSP00000423579:S1642N	S	+	2	0	ZAN	100203454	0.997000	0.39634	0.678000	0.29963	0.019000	0.09904	3.953000	0.56699	2.586000	0.87340	0.655000	0.94253	AGC		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		45	200	0	0	0	1	0	45	200					A	100365518	G	A	100365518	1	1	79	0	1	0	0	0	0	0	0	0	17567	971	34	2		2	ZAN	7	100365518	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	100365518	58773145	8657	18974											
ZAN	7455	broad.mit.edu	37	chr7	100369522	100369522	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagctttgccagttgCgtgcatggtcagtgtgggac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000348028.3	+	0	5469				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)				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)			TTGCCAGTTGCGTGCATGGTC	0.657																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							56	60	59					7																	100369522		2148	4253	6401			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369522C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369522C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5452	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		45	195	0	0	0	1	0	45	195					T	100369522	C	T	100369522	1	4	79	0	1	0	0	0	0	0	0	0	17567	776	27	1		1	ZAN	7	100369522	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4004	100369522	58769141	8658	18975											
ZAN	7455	broad.mit.edu	37	chr7	100389759	100389759	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagacggtggccccagaGcccttccaagagtgagtcat	11	14	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000348028.3	+	0	7865				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)				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)			TGGCCCCAGAGCCCTTCCAAG	0.667																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							22	25	24					7																	100389759		1988	4157	6145			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389759G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389759G>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7846	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.12|13.12	2.141535|2.141535	0.37825|0.37825	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76839|0.25579	-1.05;-1.05;-1.05|1.79	3.29|3.29	0.379|0.379	0.16213|0.16213	Uncharacterised domain, cysteine-rich (2);|.	0.499517|.	0.16268|.	N|.	0.221914|.	T|T	0.11024|0.11024	0.0269|0.0269	N|N	0.08118|0.08118	0|0	0.21386|0.21386	N|N	0.999706|0.999706	B;B|B	0.21071|0.32031	0.041;0.051|0.352	B;B|B	0.24394|0.30716	0.031;0.053|0.119	T|T	0.23226|0.23226	-1.0194|-1.0194	10|9	0.29301|0.87932	T|D	0.29|0	.|.	3.0222|3.0222	0.06079|0.06079	0.2412:0.0:0.5471:0.2117|0.2412:0.0:0.5471:0.2117	.|.	2566;2567|983	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	D|I	2566|983	ENSP00000445943:E2566D;ENSP00000445091:E2566D;ENSP00000444427:E2566D|ENSP00000441117:S983I	ENSP00000445091:E2566D|ENSP00000423579:S2567I	E|S	+|+	3|2	2|0	ZAN|ZAN	100227695|100227695	0.323000|0.323000	0.24643|0.24643	0.951000|0.951000	0.38953|0.38953	0.986000|0.986000	0.74619|0.74619	-0.479000|-0.479000	0.06567|0.06567	0.067000|0.067000	0.16545|0.16545	0.556000|0.556000	0.70494|0.70494	GAG|AGC		0.667	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	94	1	0	2.23348e-06	1	2.30073e-06	14	94					T	100389759	G	T	100389759	1	4	79	0	1	0	0	0	0	0	0	0	17567	962	34	3		3	ZAN	7	100389759	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20237	100389759	58748904	8659	18976											
EPHB4	2050	broad.mit.edu	37	chr7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggaaggcaatggcctccGgggcagtccatcggatggga	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P789L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.P789L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2365-2367)cCg>cTg		EPH receptor B4							113	100	105					7																	100404160		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404160G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2366C>T	7.37:g.100404160G>A	ENSP00000350896:p.Pro789Leu					EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			14	2834	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		789			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2366C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	EPHB4	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG		0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		74	399	0	0	0	1	0	74	399					A	100404160	G	A	100404160	3	1	79	1	0	0	0	0	1	0	0	0	5195	1116	39	1	613	1	EPHB4	7	100404160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14401	100404160	58734503	8660	18977											
EPHB4	2050	broad.mit.edu	37	chr7	100410515	100410515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctcagaaactcacgccGctgccgctccgtgtagccac	9	18	2	1	rs142798266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100410515G>A	ENST00000358173.3	-	12	2440	c.1972C>T	c.(1972-1974)Cgg>Tgg	p.R658W	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.R658W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	658	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACTCACGCCGCTGCCGCTCC	0.622																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1972-1974)Cgg>Tgg		EPH receptor B4		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104	104	104		1972	1.2	1	7	dbSNP_134	104	0,8600		0,0,4300	no	missense	EPHB4	NM_004444.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	658/988	100410515	1,13005	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410515G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1972C>T	7.37:g.100410515G>A	ENSP00000350896:p.Arg658Trp					EPHB4_ENST00000360620.3_Missense_Mutation_p.R658W	p.R658W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			12	2440	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		658			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1972C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118746	0.56505	2.27E-4	0.0	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83506	-1.73;-1.73	4.79	1.16	0.20824	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000106	D	0.90521	0.7030	M	0.86343	2.81	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.90445	0.4434	10	0.87932	D	0	.	11.2092	0.48788	0.0:0.0:0.3305:0.6695	.	658;658	Q96L35;P54760	.;EPHB4_HUMAN	W	658	ENSP00000353833:R658W;ENSP00000350896:R658W	ENSP00000350896:R658W	R	-	1	2	EPHB4	100248451	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	1.874000	0.39568	0.487000	0.27698	0.650000	0.86243	CGG		0.622	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		16	907	0	0	0	1	0	16	907					A	100410515	G	A	100410515	3	1	79	1	0	0	0	0	1	0	0	0	5195	1086	38	1	1015	1	EPHB4	7	100410515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6355	100410515	58728148	8661	18978											
EPHB4	2050	broad.mit.edu	37	chr7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccacgcagctaccggCcacgggcacaaccagctccc	8	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	220	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTACCGGCCACGGGCACA	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(658-660)Gcc>Acc		EPH receptor B4							31	33	32					7																	100420043		2203	4298	6501	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420043C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.658G>A	7.37:g.100420043C>T	ENSP00000350896:p.Ala220Thr					EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	p.A220T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			4	1126	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		220			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.658G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887613	0.33348	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73469	-0.75;-0.74	5.76	4.88	0.63580	.	0.000000	0.53938	D	0.000050	T	0.61751	0.2372	L	0.37850	1.14	0.30781	N	0.741949	B;B;P;P;P	0.40875	0.0;0.002;0.498;0.495;0.731	B;B;B;B;B	0.36464	0.0;0.001;0.115;0.169;0.225	T	0.67425	-0.5674	10	0.56958	D	0.05	.	8.5475	0.33430	0.0:0.7661:0.1522:0.0816	.	220;220;220;220;220	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	T	220	ENSP00000353833:A220T;ENSP00000350896:A220T	ENSP00000350896:A220T	A	-	1	0	EPHB4	100257979	0.998000	0.40836	0.973000	0.42090	0.006000	0.05464	2.879000	0.48522	1.432000	0.47375	0.655000	0.94253	GCC		0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		15	50	0	0	0	1	0	15	50					T	100420043	C	T	100420043	3	4	79	1	0	0	0	0	1	0	0	0	5195	739	26	2	2361	2	EPHB4	7	100420043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9528	100420043	58718620	8662	18979											
EPHB4	2050	broad.mit.edu	37	chr7	100420110	100420110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttcacagtcagctgggcGcactttttgtagaagaggtg	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C197C|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	197	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGCTGGGCGCACTTTTTGT	0.642																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(589-591)tgC>tgT		EPH receptor B4							58	59	58					7																	100420110		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420110G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.591C>T	7.37:g.100420110G>A						EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	p.C197C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			4	1059	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		197			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.591C>T	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		27	116	0	0	0	1	0	27	116					A	100420110	G	A	100420110	2	1	79	1	0	0	0	0	0	0	0	1	5195	1079	38	1		1	EPHB4	7	100420110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	100420110	58718553	8663	18980											
EPHB4	2050	broad.mit.edu	37	chr7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacacacttcgtaggtgCgcacgctgtgctgttcctca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGTAGGTGCGCACGCTGTG	0.687																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(166-168)cGc>cAc		EPH receptor B4																																				SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421510C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.167G>A	7.37:g.100421510C>T	ENSP00000350896:p.Arg56His					EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	p.R56H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	635	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		56					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.167G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261777	0.80358	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.12465	2.68;2.68	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	T	0.29914	0.0748	L	0.46947	1.48	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.00849	-1.1541	10	0.28530	T	0.3	.	15.9831	0.80127	0.0:1.0:0.0:0.0	.	56;56;56;56;56	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	H	56	ENSP00000353833:R56H;ENSP00000350896:R56H	ENSP00000350896:R56H	R	-	2	0	EPHB4	100259446	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	7.763000	0.85283	2.452000	0.82932	0.556000	0.70494	CGC		0.687	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		13	88	0	0	0	1	0	13	88					T	100421510	C	T	100421510	3	4	79	1	0	0	0	0	1	0	0	0	5195	768	27	1	2856	1	EPHB4	7	100421510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400	100421510	58717153	8664	18981											
TRIP6	7205	broad.mit.edu	37	chr7	100465482	100465482	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttctcttccctcaacccaGcactccagccccaccccagg	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6						focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.e2-1		thyroid hormone receptor interactor 6							72	86	81					7																	100465482		2202	4300	6502	SO:0001630	splice_region_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465482G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.110-1G>T	7.37:g.100465482G>T								NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			2	469	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Splice_Site	SNP	ENST00000200457.4	37		CCDS5708.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236992	0.58886	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6449	0.56729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP6	100303418	0.997000	0.39634	0.994000	0.49952	0.848000	0.48234	2.957000	0.49137	2.372000	0.80975	0.561000	0.74099	.		0.632	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302	Intron	154	791	1	0	5.13159e-70	1	6.51657e-70	154	791					T	100465482	G	T	100465482	5	4	79	1	0	0	0	0	0	0	1	0	16612	985	34	3	115	3	TRIP6	7	100465482	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43972	100465482	58673181	8665	18982											
TRIP6	7205	broad.mit.edu	37	chr7	100470363	100470363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattggctgttacaagtgCgaggtcaggggcccccagca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470363C>T	ENST00000200457.4	+	8	1656	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	432	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTACAAGTGCGAGGTCAGGG	0.577																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(1294-1296)tgC>tgT		thyroid hormone receptor interactor 6							91	73	79					7																	100470363		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100470363C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1296C>T	7.37:g.100470363C>T							p.C432C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			8	1656	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		432			LIM zinc-binding 3.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.1296C>T	CCDS5708.1																																																																																				0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		12	318	0	0	0	1	0	12	318					T	100470363	C	T	100470363	2	4	79	1	0	0	0	0	0	0	0	1	16612	776	27	1		1	TRIP6	7	100470363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4881	100470363	58668300	8666	18983											
TRIP6	7205	broad.mit.edu	37	chr7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgcaaggcctgcagcgCctggcgcatccaggagctct	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	462	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(1384-1386)gCc>gAc		thyroid hormone receptor interactor 6							87	79	82					7																	100470879		2203	4300	6503	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100470879C>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1385C>A	7.37:g.100470879C>A	ENSP00000200457:p.Ala462Asp						p.A462D	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			9	1745	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		462			LIM zinc-binding 3.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.1385C>A	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742577	0.89573	.	.	ENSG00000087077	ENST00000200457	T	0.60424	0.19	4.37	4.37	0.52481	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.74688	-0.3581	10	0.52906	T	0.07	.	14.4634	0.67467	0.0:1.0:0.0:0.0	.	462	Q15654	TRIP6_HUMAN	D	462	ENSP00000200457:A462D	ENSP00000200457:A462D	A	+	2	0	TRIP6	100308815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.709000	0.68384	2.268000	0.75426	0.561000	0.74099	GCC		0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		74	412	1	0	1.1397e-45	1	1.39802e-45	74	412					A	100470879	C	A	100470879	3	1	79	1	0	0	0	0	1	0	0	0	16612	739	26	3	1419	3	TRIP6	7	100470879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	516	100470879	58667784	8667	18984											
SRRT	51593	broad.mit.edu	37	chr7	100482892	100482892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggagaagcccaaggaCgccgcggggctggagtgcaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482892C>T	ENST00000347433.4	+	10	1376	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D|SRRT_ENST00000388793.4_Silent_p.D405D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	406					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAAGGACGCCGCGGGGC	0.592																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1213-1215)gaC>gaT		serrate RNA effector molecule homolog (Arabidopsis)							53	60	58					7																	100482892		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482892C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1218C>T	7.37:g.100482892C>T						SRRT_ENST00000347433.4_Silent_p.D406D|SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D	p.D405D	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1435	+			406					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1215C>T	CCDS34709.1																																																																																				0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		13	684	0	0	0	1	0	13	684					T	100482892	C	T	100482892	2	4	79	1	0	0	0	0	0	0	0	1	15224	535	19	1		1	SRRT	7	100482892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	100482892	58655771	8668	18985											
SRRT	51593	broad.mit.edu	37	chr7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgcgcaacatcgcgCccaacatctcccgggccgag	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000347433.4	+	10	1446	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T|SRRT_ENST00000388793.4_Missense_Mutation_p.P429T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	430					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACATCGCGCCCAACATCTC	0.642																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1285-1287)Ccc>Acc		serrate RNA effector molecule homolog (Arabidopsis)							44	44	44					7																	100482962		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482962C>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1288C>A	7.37:g.100482962C>A	ENSP00000314491:p.Pro430Thr					SRRT_ENST00000347433.4_Missense_Mutation_p.P430T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T	p.P429T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1505	+			430					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1285C>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774444	0.90108	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.994	T	0.72134	-0.4382	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	429;429;430;430	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	430;429;429;430;60	ENSP00000416553:P430T;ENSP00000373445:P429T;ENSP00000391852:P429T;ENSP00000314491:P430T	ENSP00000314491:P430T	P	+	1	0	SRRT	100320898	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	6.751000	0.74893	2.595000	0.87683	0.655000	0.94253	CCC		0.642	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		89	292	1	0	2.02726e-29	1	2.36871e-29	89	292					A	100482962	C	A	100482962	3	1	79	1	0	0	0	0	1	0	0	0	15224	739	26	3	1322	3	SRRT	7	100482962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	100482962	58655701	8669	18986											
ACHE	43	broad.mit.edu	37	chr7	100488797	100488797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctgcataccggtggcGctgagcaatttggggaggaa	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100488797G>A	ENST00000412389.1	-	3	1871	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	ACHE_ENST00000419336.2_Silent_p.S484S|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000302913.4_Silent_p.S572S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	572					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TACCGGTGGCGCTGAGCAATT	0.701																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1714-1716)agC>agT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						6	7	7					7																	100488797		2084	4116	6200	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100488797G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1716C>T	7.37:g.100488797G>A						ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000412389.1_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S	p.S572S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			4	1854	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		572					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1716C>T	CCDS5709.1																																																																																				0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		19	88	0	0	0	1	0	19	88					A	100488797	G	A	100488797	2	1	79	1	0	0	0	0	0	0	0	1	141	1078	38	1		1	ACHE	7	100488797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5835	100488797	58649866	8670	18987											
ACHE	43	broad.mit.edu	37	chr7	100490798	100490798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctagttacctgcaggccgtgGaagtctcccgcgttgatgag	13	11	1	2	rs376342806		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100490798G>T	ENST00000412389.1	-	1	1211	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000302913.4_Missense_Mutation_p.F352L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	352					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GCAGGCCGTGGAAGTCTCCCG	0.617																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1054-1056)ttC>ttA		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						65	53	57					7																	100490798		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490798G>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1056C>A	7.37:g.100490798G>T	ENSP00000394976:p.Phe352Leu					ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000412389.1_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L	p.F352L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	1194	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		352					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.1056C>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366739	0.24771	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.03	0.554	0.17241	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.52364	1.645	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.997;0.998	T	0.66810	-0.5829	10	0.41790	T	0.15	.	7.9551	0.30038	0.4145:0.0:0.5855:0.0	.	352;352;352;352	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	L	352	ENSP00000403474:F352L;ENSP00000241069:F352L;ENSP00000414858:F352L;ENSP00000303211:F352L;ENSP00000394976:F352L;ENSP00000397143:F352L;ENSP00000399725:F352L;ENSP00000404865:F352L	ENSP00000241069:F352L	F	-	3	2	ACHE	100328734	1.000000	0.71417	0.800000	0.32199	0.191000	0.23601	2.670000	0.46833	0.166000	0.19597	-0.439000	0.05793	TTC		0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		11	141	1	0	1.58986e-06	1	1.64048e-06	11	141					T	100490798	G	T	100490798	3	4	79	1	0	0	0	0	1	0	0	0	141	1165	41	3	939	3	ACHE	7	100490798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2001	100490798	58647865	8671	18988											
ACHE	43	broad.mit.edu	37	chr7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccactgtagaagccacccCcatagatccagacgaggaca	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000412389.1	-	1	607	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000302913.4_Missense_Mutation_p.G151V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	151					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(451-453)gGg>gTg		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						79	82	81					7																	100491402		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491402C>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.452G>T	7.37:g.100491402C>A	ENSP00000394976:p.Gly151Val					ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000412389.1_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V	p.G151V	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	590	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		151					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.452G>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079176	0.76528	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.86097	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-2.07	5.45	4.56	0.56223	Carboxylesterase, type B (1);	0.050345	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98487	4.245	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	0.95826	0.8854	10	0.87932	D	0	.	11.8685	0.52507	0.0:0.9137:0.0:0.0863	.	151;151;151;151	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	151	ENSP00000403474:G151V;ENSP00000241069:G151V;ENSP00000414858:G151V;ENSP00000303211:G151V;ENSP00000394976:G151V;ENSP00000397143:G151V;ENSP00000399725:G151V;ENSP00000404865:G151V;ENSP00000396360:G151V	ENSP00000241069:G151V	G	-	2	0	ACHE	100329338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	1.274000	0.44362	0.561000	0.74099	GGG		0.612	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		124	468	1	0	3.79751e-50	1	4.70383e-50	124	468					A	100491402	C	A	100491402	3	1	79	1	0	0	0	0	1	0	0	0	141	623	22	3	1543	3	ACHE	7	100491402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	100491402	58647261	8672	18989											
MUC17	140453	broad.mit.edu	37	chr7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccttggtcctctcgCtcttgcccccacaagctgct	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	18					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)					GGTCCTCTCGCTCTTGCCCCC	0.662																																						ENST00000306151.4																			0				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						c.(52-54)Ctc>Atc		mucin 17, cell surface associated							108	75	86					7																	100663468		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100663468C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.52C>A	7.37:g.100663468C>A	ENSP00000302716:p.Leu18Ile						p.L18I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			1	116	+	Lung NSC(181;0.136)|all_lung(186;0.182)		18					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.52C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411676	0.11812	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	2.12	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.49925	-0.8887	9	0.87932	D	0	.	7.7734	0.29021	0.0:1.0:0.0:0.0	.	18	Q685J3	MUC17_HUMAN	I	18	ENSP00000302716:L18I	ENSP00000302716:L18I	L	+	1	0	MUC17	100450188	0.000000	0.05858	0.075000	0.20258	0.003000	0.03518	-0.141000	0.10327	1.511000	0.48818	0.407000	0.27541	CTC		0.662	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		49	156	1	0	3.19069e-20	1	3.57165e-20	49	156					A	100663468	C	A	100663468	3	1	79	1	0	0	0	0	1	0	0	0	10015	797	28	3	54	3	MUC17	7	100663468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172066	100663468	58475195	8673	18990											
MUC17	140453	broad.mit.edu	37	chr7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactccattaacaagtatgtCtgtcagcaccatgccggtgg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	517	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)					ACAAGTATGTCTGTCAGCACC	0.498																																						ENST00000306151.4																			0				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						c.(1549-1551)tCt>tTt		mucin 17, cell surface associated							347	350	349					7																	100676247		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676247C>T	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.1550C>T	7.37:g.100676247C>T	ENSP00000302716:p.Ser517Phe						p.S517F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1614	+	Lung NSC(181;0.136)|all_lung(186;0.182)		517			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1550C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563994	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.45	-1.07	0.09968	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.51795	-0.8660	9	0.37606	T	0.19	.	6.7974	0.23732	0.4807:0.5193:0.0:0.0	.	517	Q685J3	MUC17_HUMAN	F	517	ENSP00000302716:S517F	ENSP00000302716:S517F	S	+	2	0	MUC17	100462967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.270000	0.09285	-0.529000	0.04317	TCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		78	2633	0	0	0	1	0	78	2633					T	100676247	C	T	100676247	3	4	79	1	0	0	0	0	1	0	0	0	10015	913	32	2	1560	2	MUC17	7	100676247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12779	100676247	58462416	8674	18991											
MUC17	140453	broad.mit.edu	37	chr7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctttcaacaactcccGttgacaacagcacacctgtg	6	16	1	1	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1715	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)					AACAACTCCCGTTGACAACAG	0.468													g|||	4	0.000798722	0.0	0.0029	5008	,	,		24906	0.0		0.002	False		,,,				2504	0.0					ENST00000306151.4																			0				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						c.(5143-5145)Gtt>Att		mucin 17, cell surface associated		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	216	226	222		5143	-1.4	0	7	dbSNP_134	222	23,8577	16.0+/-53.3	1,21,4278	no	missense	MUC17	NM_001040105.1	29	1,24,6478	AA,AG,GG		0.2674,0.0681,0.1999	benign	1715/4494	100679840	26,12980	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679840G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5143G>A	7.37:g.100679840G>A	ENSP00000302716:p.Val1715Ile						p.V1715I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5207	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1715			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5143G>A	CCDS34711.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	3.260	-0.151386	0.06585	6.81E-4	0.002674	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	-1.39	0.08997	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.09377	0.004	T	0.47649	-0.9101	9	0.30078	T	0.28	.	4.7501	0.13056	0.3491:0.0:0.6509:0.0	.	1715	Q685J3	MUC17_HUMAN	I	1715	ENSP00000302716:V1715I	ENSP00000302716:V1715I	V	+	1	0	MUC17	100466560	0.063000	0.20901	0.000000	0.03702	0.004000	0.04260	1.975000	0.40569	-0.376000	0.07943	0.134000	0.15878	GTT		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		412	1578	0	0	0	1	0	412	1578					A	100679840	G	A	100679840	3	1	79	1	0	0	0	0	1	0	0	0	10015	1145	40	1	5153	1	MUC17	7	100679840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3593	100679840	58458823	8675	18992											
MUC17	140453	broad.mit.edu	37	chr7	100681006	100681006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgaaggaagtcctctActaacaagtatacctctcag	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	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)					GAAGTCCTCTACTAACAAGTA	0.498																																						ENST00000306151.4																			0				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						c.(6307-6309)ctA>ctG		mucin 17, cell surface associated							201	202	201					7																	100681006		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681006A>G	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.6309A>G	7.37:g.100681006A>G							p.L2103L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2103			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6309A>G	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		286	1253	0	0	0	1	0	286	1253					G	100681006	A	G	100681006	2	3	79	1	0	0	0	0	0	0	0	1	10015	378	14	4		4	MUC17	7	100681006	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1166	100681006	58457657	8676	18993											
TRIM56	81844	broad.mit.edu	37	chr7	100730866	100730866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaaggcccgggcctgTggagacctgcgtgccgggaa	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	91					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCGGGCCTGTGGAGACCTGC	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(271-273)tgT>tgC		tripartite motif containing 56							31	39	37					7																	100730866		2122	4226	6348	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730866T>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.273T>C	7.37:g.100730866T>C							p.C91C	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	570	+	Lung NSC(181;0.136)|all_lung(186;0.182)		91					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.273T>C	CCDS43625.1																																																																																				0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		94	453	0	0	0	1	0	94	453					C	100730866	T	C	100730866	2	2	79	1	0	0	0	0	0	0	0	1	16583	1702	59	4		4	TRIM56	7	100730866	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49860	100730866	58407797	8677	18994											
TRIM56	81844	broad.mit.edu	37	chr7	100730929	100730929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggtggcaccagcacCggggggccggccacggcccg	19	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	112					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCAGCACCGGGGGGCCGG	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(334-336)acC>acT		tripartite motif containing 56							17	21	20					7																	100730929		2017	4139	6156	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730929C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.336C>T	7.37:g.100730929C>T							p.T112T	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	633	+	Lung NSC(181;0.136)|all_lung(186;0.182)		112					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.336C>T	CCDS43625.1																																																																																				0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		74	252	0	0	0	1	0	74	252					T	100730929	C	T	100730929	2	4	79	1	0	0	0	0	0	0	0	1	16583	639	23	1		1	TRIM56	7	100730929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	100730929	58407734	8678	18995											
SERPINE1	5054	broad.mit.edu	37	chr7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatgaccaggctgccccGcctcctggttctgcccaagt	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000223095.4	+	5	1038	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(880-882)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						98	85	90					7																	100777156		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100777156G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.881G>A	7.37:g.100777156G>A	ENSP00000223095:p.Arg294His					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	p.R294H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			5	1038	+	Lung NSC(181;0.136)|all_lung(186;0.182)		294					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.881G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287680	0.80803	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21932	1.98;1.98	5.47	5.47	0.80525	Serpin domain (3);	0.061905	0.64402	D	0.000010	T	0.43233	0.1238	L	0.54323	1.7	0.48571	D	0.999676	D;D	0.89917	1.0;1.0	D;D	0.76575	0.977;0.988	T	0.14643	-1.0465	10	0.59425	D	0.04	.	17.1908	0.86879	0.0:0.0:1.0:0.0	.	279;294	F8WD53;P05121	.;PAI1_HUMAN	H	294;279;71	ENSP00000223095:R294H;ENSP00000396766:R279H	ENSP00000223095:R294H	R	+	2	0	SERPINE1	100563876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	2.724000	0.93272	0.561000	0.74099	CGC		0.592	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		30	289	0	0	0	1	0	30	289					A	100777156	G	A	100777156	3	1	79	1	0	0	0	0	1	0	0	0	14161	1087	38	1	895	1	SERPINE1	7	100777156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46227	100777156	58361507	8679	18996											
SERPINE1	5054	broad.mit.edu	37	chr7	100779051	100779051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgaagatcgaggtgaaCgagagtggcacggtggcctc	16	7	0	4	rs538551265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1054-1056)aaC>aaT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						86	77	80					7																	100779051		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779051C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1056C>T	7.37:g.100779051C>T						SERPINE1_ENST00000445463.2_Silent_p.N337N	p.N352N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		352					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1056C>T	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		52	310	0	0	0	1	0	52	310					T	100779051	C	T	100779051	2	4	79	1	0	0	0	0	0	0	0	1	14161	535	19	1		1	SERPINE1	7	100779051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1895	100779051	58359612	8680	18997											
AP1S1	1174	broad.mit.edu	37	chr7	100802426	100802426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggggatgtccaggacacCtccaagaagagtgtgctgaa	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	126					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(376-378)acC>acA		adaptor-related protein complex 1, sigma 1 subunit							55	60	58					7																	100802426		2114	4210	6324	SO:0001819	synonymous_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802426C>A	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.378C>A	7.37:g.100802426C>A							p.T126T	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	496	+	Lung NSC(181;0.168)|all_lung(186;0.215)		126					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Silent	SNP	ENST00000337619.5	37	c.378C>A	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040322	0.19669	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	-0.323	0.12709	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	3.3721	0.5486	0.00658	0.2789:0.337:0.1363:0.2478	.	.	.	.	H	168	.	.	P	+	2	0	AP1S1	100589146	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-2.737000	0.00801	-0.265000	0.09352	0.555000	0.69702	CCT		0.582	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		36	119	1	0	9.78485e-24	1	1.11444e-23	36	119					A	100802426	C	A	100802426	2	1	79	1	0	0	0	0	0	0	0	1	736	668	24	3		3	AP1S1	7	100802426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23375	100802426	58336237	8681	18998											
MOGAT3	346606	broad.mit.edu	37	chr7	100842058	100842058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacatgatcccatgaggGtgggcgcccagcacgtagtt	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000440203.2_Silent_p.H114H|MOGAT3_ENST00000379423.3_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	114					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(340-342)caC>caT		monoacylglycerol O-acyltransferase 3							80	85	83					7																	100842058		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100842058G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.342C>T	7.37:g.100842058G>A						MOGAT3_ENST00000440203.2_Silent_p.H114H|MOGAT3_ENST00000379423.3_Silent_p.H114H	p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			4	508	-	Lung NSC(181;0.168)|all_lung(186;0.215)		114					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.342C>T	CCDS5714.1																																																																																				0.602	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		100	442	0	0	0	1	0	100	442					A	100842058	G	A	100842058	2	1	79	1	0	0	0	0	0	0	0	1	9737	1252	44	2		2	MOGAT3	7	100842058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39632	100842058	58296605	8682	18999											
MOGAT3	346606	broad.mit.edu	37	chr7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggttccttatccactccGaacgccttccacctgcggac	7	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(229-231)tCg>tTg		monoacylglycerol O-acyltransferase 3							172	166	168					7																	100843573		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100843573G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.230C>T	7.37:g.100843573G>A	ENSP00000223114:p.Ser77Leu					MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L	p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			3	396	-	Lung NSC(181;0.168)|all_lung(186;0.215)		77					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.230C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404648	0.25378	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.15139	2.45;2.45;2.45	4.65	-9.31	0.00646	.	1.276940	0.05401	N	0.540645	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	P;P	0.48162	0.906;0.676	B;B	0.37047	0.24;0.09	T	0.31052	-0.9957	10	0.11182	T	0.66	15.0773	1.1156	0.01714	0.305:0.2917:0.0947:0.3086	.	77;77	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	77	ENSP00000223114:S77L;ENSP00000403756:S77L;ENSP00000368734:S77L	ENSP00000223114:S77L	S	-	2	0	MOGAT3	100630293	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.916000	0.04029	-2.266000	0.00687	-0.189000	0.12847	TCG		0.567	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		105	885	0	0	0	1	0	105	885					A	100843573	G	A	100843573	3	1	79	1	0	0	0	0	1	0	0	0	9737	1059	37	1	815	1	MOGAT3	7	100843573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1515	100843573	58295090	8683	19000											
PLOD3	8985	broad.mit.edu	37	chr7	100859508	100859508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgccagcccccactcGggccagcagaagctctctgc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	146					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)			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)	GCCCCCACTCGGGCCAGCAGA	0.637																																						ENST00000223127.3																			0				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						c.(436-438)ccC>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						23	25	25					7																	100859508		2203	4300	6503	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.chr7:100859508G>A	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.438C>T	7.37:g.100859508G>A							p.P146P	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			4	836	-	Lung NSC(181;0.168)|all_lung(186;0.215)		146					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.438C>T	CCDS5715.1																																																																																				0.637	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			63	224	0	0	0	1	0	63	224					A	100859508	G	A	100859508	2	1	79	1	0	0	0	0	0	0	0	1	12145	1103	39	1		1	PLOD3	7	100859508	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15935	100859508	58279155	8684	19001											
EMID2	136227	broad.mit.edu	37	chr7	101200789	101200789	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggacagaagagcgtggaCcaggccagcagcaggaagtg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101200789C>T	ENST00000397927.3	+	0	1517				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											AGAGCGTGGACCAGGCCAGCA	0.637																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							30	34	32					7																	101200789		2000	4175	6175			136227							g.chr7:101200789C>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101200789C>T						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	1494	+								Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.637	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		6	186	0	0	0	1	0	6	186					T	101200789	C	T	101200789	1	4	79	0	1	0	0	0	0	0	0	0	5110	507	18	2		2	EMID2	7	101200789	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	341281	101200789	57937874	8685	19002											
MYL10	93408	broad.mit.edu	37	chr7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtttacctcctcctcactGaagcggtctgcctgggtcat	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(568-570)ttC>ttA		myosin, light chain 10, regulatory							153	129	137					7																	101256954		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256954G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.570C>A	7.37:g.101256954G>T	ENSP00000223167:p.Phe190Leu						p.F190L	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			7	747	-			190			EF-hand 3.			Missense_Mutation	SNP	ENST00000223167.4	37	c.570C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575912	0.86645	.	.	ENSG00000106436	ENST00000223167	T	0.74315	-0.83	4.61	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76026	0.3930	L	0.58583	1.82	0.52501	D	0.999956	D	0.55172	0.97	P	0.52758	0.708	T	0.75510	-0.3292	10	0.39692	T	0.17	.	10.8521	0.46775	0.0964:0.0:0.9036:0.0	.	190	Q9BUA6	MYL10_HUMAN	L	190	ENSP00000223167:F190L	ENSP00000223167:F190L	F	-	3	2	MYL10	101043674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.324000	0.52022	2.122000	0.65172	0.650000	0.86243	TTC		0.547	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		64	391	1	0	4.17052e-40	1	5.05327e-40	64	391					T	101256954	G	T	101256954	3	4	79	1	0	0	0	0	1	0	0	0	10085	1281	45	3	118	3	MYL10	7	101256954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56165	101256954	57881709	8686	19003											
CUX1	1523	broad.mit.edu	37	chr7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccagaaagcggcttatcGaacagagccgggagttcaag	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000292535.7	+	2	144	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	36					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCGGCTTATCGAACAGAGCCG	0.527																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(139-141)Gaa>Aaa		cut-like homeobox 1							137	127	130					7																	101559470		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559470G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.106G>A	7.37:g.101559470G>A	ENSP00000292535:p.Glu36Lys					CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000292535.7_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR	p.E47K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			2	159	+			36					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.139G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768339	0.90020	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T;T	0.70399	1.45;1.19;1.45;-0.48;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.47	5.47	0.80525	.	0.076771	0.50627	D	0.000109	T	0.71995	0.3406	L	0.31664	0.95	0.80722	D	1	D;D;P;D;P;D	0.71674	0.998;0.985;0.882;0.991;0.669;0.998	P;B;B;P;B;P	0.54346	0.566;0.314;0.338;0.512;0.094;0.749	T	0.75317	-0.3360	10	0.66056	D	0.02	-27.7761	17.5093	0.87755	0.0:0.0:1.0:0.0	.	36;47;47;47;47;47	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	47;47;47;47;47;47;36;36;36;36;36	ENSP00000292538:E47K;ENSP00000449371:E47K;ENSP00000353401:E47K;ENSP00000377410:E47K;ENSP00000409745:E47K;ENSP00000414091:E47K;ENSP00000292535:E36K;ENSP00000446630:E36K;ENSP00000447373:E36K;ENSP00000450125:E36K;ENSP00000451558:E36K	ENSP00000292535:E36K	E	+	1	0	CUX1	101346190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAA		0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		114	530	0	0	0	1	0	114	530					A	101559470	G	A	101559470	3	1	79	1	0	0	0	0	1	0	0	0	4075	1059	37	1	179	1	CUX1	7	101559470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302516	101559470	57579193	8687	19004											
CUX1	1523	broad.mit.edu	37	chr7	101747666	101747666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaatatgaacagacaCtgaagaaccaagccgaaacc	8	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000292535.7	+	6	495	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000292538.4_Silent_p.L164L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	153					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAACAGACACTGAAGAACCA	0.398																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(490-492)Ctg>Ttg		cut-like homeobox 1							188	172	177					7																	101747666		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747666C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.457C>T	7.37:g.101747666C>T						CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000292535.7_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L	p.L164L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			6	510	+			153					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.490C>T	CCDS5721.1																																																																																				0.398	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		111	534	0	0	0	1	0	111	534					T	101747666	C	T	101747666	2	4	79	1	0	0	0	0	0	0	0	1	4075	564	20	2		2	CUX1	7	101747666	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188196	101747666	57390997	8688	19005											
CUX1	1523	broad.mit.edu	37	chr7	101848408	101848408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtcctccactccgtgAcatcgctccaggacccgctg	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101848408A>G	ENST00000292535.7	+	20	3126	c.3088A>G	c.(3088-3090)Aca>Gca	p.T1030A	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000360264.3_Missense_Mutation_p.T1041A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1030					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACTCCGTGACATCGCTCCA	0.512																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3121-3123)Aca>Gca		cut-like homeobox 1							127	115	119					7																	101848408		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101848408A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3088A>G	7.37:g.101848408A>G	ENSP00000292535:p.Thr1030Ala					CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T1030A	p.T1041A	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			20	3141	+			1030					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3121A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752581	0.15778	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61158	0.15;0.14;0.15;0.14;0.15;0.13	5.71	0.191	0.15130	.	0.545468	0.18875	N	0.128726	T	0.33614	0.0869	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.07868	-1.0750	10	0.12103	T	0.63	-1.6649	5.8183	0.18514	0.5672:0.2374:0.1954:0.0	.	1030;1041	P39880;P39880-3	CUX1_HUMAN;.	A	1041;1030;1008;974;928;872	ENSP00000353401:T1041A;ENSP00000292535:T1030A;ENSP00000446630:T1008A;ENSP00000447373:T974A;ENSP00000450125:T928A;ENSP00000451558:T872A	ENSP00000292535:T1030A	T	+	1	0	CUX1	101635128	1.000000	0.71417	0.973000	0.42090	0.051000	0.14879	1.517000	0.35867	-0.187000	0.10516	0.482000	0.46254	ACA		0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	324	0	0	0	1	0	10	324					G	101848408	A	G	101848408	3	3	79	1	0	0	0	0	1	0	0	0	4075	275	10	4	3233	4	CUX1	7	101848408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100742	101848408	57290255	8689	19006											
CUX1	1523	broad.mit.edu	37	chr7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttggggagaccatcttaGggctcacccaaggctctgtc	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000292535.7	+	22	3501	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1155					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACCATCTTAGGGCTCACCCA	0.557																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3496-3498)Ggg>Tgg		cut-like homeobox 1							109	106	107					7																	101877361		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877361G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3463G>T	7.37:g.101877361G>T	ENSP00000292535:p.Gly1155Trp					CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1155W	p.G1166W	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3516	+			1155					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3496G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216979	0.79352	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66099	-0.16;-0.16;-0.18;-0.19;-0.18;-0.18	5.32	4.43	0.53597	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.84739	0.0750	10	0.87932	D	0	-23.4085	14.2405	0.65954	0.0727:0.0:0.9273:0.0	.	1155;1166	P39880;P39880-3	CUX1_HUMAN;.	W	1166;1155;1133;1099;1053;997	ENSP00000353401:G1166W;ENSP00000292535:G1155W;ENSP00000446630:G1133W;ENSP00000447373:G1099W;ENSP00000450125:G1053W;ENSP00000451558:G997W	ENSP00000292535:G1155W	G	+	1	0	CUX1	101664081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	7.974000	0.88039	1.215000	0.43411	0.655000	0.94253	GGG		0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		58	350	1	0	2.67592e-24	1	3.05781e-24	58	350					T	101877361	G	T	101877361	3	4	79	1	0	0	0	0	1	0	0	0	4075	1000	35	3	3616	3	CUX1	7	101877361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28953	101877361	57261302	8690	19007											
CUX1	1523	broad.mit.edu	37	chr7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagctcagtctgaaaggaCgagagcccttcgtccggatg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000292535.7	+	22	3573	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1179					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCTGAAAGGACGAGAGCCCTT	0.557																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3568-3570)Cga>Tga		cut-like homeobox 1							96	85	89					7																	101877433		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877433C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3535C>T	7.37:g.101877433C>T	ENSP00000292535:p.Arg1179*					CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R1179*	p.R1190*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3588	+			1179					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.3568C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128236	0.98667	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7042	15.861	0.79021	0.2249:0.7751:0.0:0.0	.	.	.	.	X	1190;1179;1157;1123;1077;1021	.	ENSP00000292535:R1179X	R	+	1	2	CUX1	101664153	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.359000	0.34113	2.486000	0.83907	0.655000	0.94253	CGA		0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		82	270	0	0	0	1	0	82	270					T	101877433	C	T	101877433	4	4	79	1	0	0	0	0	0	1	0	0	4075	528	19	1	3688	1	CUX1	7	101877433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	101877433	57261230	8691	19008											
CUX1	1523	broad.mit.edu	37	chr7	101916707	101916707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgagcagagagagctgatCgcccgcctggagcaggacct	14	12	0	4	rs200271633	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000437600.4	+	15	1672	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000292538.4_Silent_p.I442I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGAGCTGATCGCCCGCCTGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19500	0.0		0.0	False		,,,				2504	0.0					ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1318-1320)atC>atT		cut-like homeobox 1							58	47	51					7																	101916707		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101916707C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1320C>T	7.37:g.101916707C>T						CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000425244.2_Silent_p.I396I	p.I440I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			15	1672	+			299					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1320C>T	CCDS47672.1																																																																																				0.637	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		16	91	0	0	0	1	0	16	91					T	101916707	C	T	101916707	2	4	79	1	0	0	0	0	0	0	0	1	4075	874	31	1		1	CUX1	7	101916707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39274	101916707	57221956	8692	19009											
CUX1	1523	broad.mit.edu	37	chr7	101921318	101921318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaagatcaagttcctGcagagctaccctggccgggt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000437600.4	+	18	2008	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000292538.4_Silent_p.L554L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	361					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTTCCTGCAGAGCTACC	0.652																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1654-1656)ctG>ctA		cut-like homeobox 1							40	34	36					7																	101921318		2203	4299	6502	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921318G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1656G>A	7.37:g.101921318G>A						CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000425244.2_Silent_p.L508L	p.L552L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	2008	+			361					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1656G>A	CCDS47672.1																																																																																				0.652	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		15	116	0	0	0	1	0	15	116					A	101921318	G	A	101921318	2	1	79	1	0	0	0	0	0	0	0	1	4075	1306	46	2		2	CUX1	7	101921318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4611	101921318	57217345	8693	19010											
ALKBH4	54784	broad.mit.edu	37	chr7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcactgctcgacgggcCggaagccctccagccccggg	15	16	0	0	rs564272056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|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)			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(445-447)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							24	25	25					7																	102098304		2202	4299	6501	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098304C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.446G>A	7.37:g.102098304C>T	ENSP00000292566:p.Arg149Gln						p.R149Q	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	485	-			149					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.446G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	ALKBH4	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG		0.692	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		20	194	0	0	0	1	0	20	194					T	102098304	C	T	102098304	3	4	79	1	0	0	0	0	1	0	0	0	529	652	23	1	466	1	ALKBH4	7	102098304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176986	102098304	57040359	8694	19011											
LRWD1	222229	broad.mit.edu	37	chr7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgggggatgttactgCcttgtgccagttccccaagc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	86					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(256-258)gCc>gTc		leucine-rich repeats and WD repeat domain containing 1							49	48	48					7																	102106440		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106440C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.257C>T	7.37:g.102106440C>T	ENSP00000292616:p.Ala86Val						p.A86V	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	409	+			86					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.257C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090407	0.20471	.	.	ENSG00000161036	ENST00000292616	T	0.60040	0.22	5.19	-0.411	0.12370	.	1.003600	0.08021	N	0.991985	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.23302	T	0.38	-21.2124	1.2457	0.01972	0.1397:0.3396:0.2726:0.2481	.	86	Q9UFC0	LRWD1_HUMAN	V	86	ENSP00000292616:A86V	ENSP00000292616:A86V	A	+	2	0	LRWD1	101893445	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	0.133000	0.15912	-0.382000	0.07870	0.561000	0.74099	GCC		0.627	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		22	203	0	0	0	1	0	22	203					T	102106440	C	T	102106440	3	4	79	1	0	0	0	0	1	0	0	0	9085	739	26	2	263	2	LRWD1	7	102106440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8136	102106440	57032223	8695	19012											
LRWD1	222229	broad.mit.edu	37	chr7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcccgagtccctcagcGagttcacccagtggcgggta	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	186					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(556-558)Gag>Aag		leucine-rich repeats and WD repeat domain containing 1							57	56	57					7																	102107909		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102107909G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.556G>A	7.37:g.102107909G>A	ENSP00000292616:p.Glu186Lys		OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364		p.E186K	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			4	708	+			186					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.556G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763152	0.89932	.	.	ENSG00000161036	ENST00000292616	T	0.61980	0.06	4.87	4.87	0.63330	.	0.283914	0.39210	N	0.001421	T	0.49915	0.1585	L	0.50333	1.59	0.58432	D	0.999998	P	0.49358	0.923	B	0.31869	0.137	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.4247	15.3252	0.74154	0.0:0.0:1.0:0.0	.	186	Q9UFC0	LRWD1_HUMAN	K	186	ENSP00000292616:E186K	ENSP00000292616:E186K	E	+	1	0	LRWD1	101894914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.608000	0.82898	2.527000	0.85204	0.462000	0.41574	GAG		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		35	161	0	0	0	1	0	35	161					A	102107909	G	A	102107909	3	1	79	1	0	0	0	0	1	0	0	0	9085	1059	37	1	570	1	LRWD1	7	102107909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	102107909	57030754	8696	19013											
LRWD1	222229	broad.mit.edu	37	chr7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggactccaacatcgtaGccatctgggggaggatgtag	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	642					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(1924-1926)Gcc>Acc		leucine-rich repeats and WD repeat domain containing 1							107	94	98					7																	102113476		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102113476G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1924G>A	7.37:g.102113476G>A	ENSP00000292616:p.Ala642Thr						p.A642T	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			15	2076	+			642					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.1924G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819219	0.32145	.	.	ENSG00000161036	ENST00000292616	T	0.61274	0.12	5.94	5.04	0.67666	.	0.351640	0.33854	N	0.004491	T	0.48370	0.1496	L	0.50333	1.59	0.32081	N	0.593122	B	0.28605	0.217	B	0.24541	0.054	T	0.53486	-0.8432	10	0.13108	T	0.6	-18.8346	13.5495	0.61723	0.0:0.0:0.8392:0.1608	.	642	Q9UFC0	LRWD1_HUMAN	T	642	ENSP00000292616:A642T	ENSP00000292616:A642T	A	+	1	0	LRWD1	101900481	0.999000	0.42202	0.856000	0.33681	0.631000	0.37964	3.150000	0.50662	1.464000	0.47987	0.561000	0.74099	GCC		0.592	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		62	310	0	0	0	1	0	62	310					A	102113476	G	A	102113476	3	1	79	1	0	0	0	0	1	0	0	0	9085	971	34	2	1982	2	LRWD1	7	102113476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5567	102113476	57025187	8697	19014											
FBXL13	222235	broad.mit.edu	37	chr7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagagctctgaaagtaCaatcggagatatgcggtgca	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000313221.4	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(1174-1176)tGt>tAt		F-box and leucine-rich repeat protein 13							59	63	62					7																	102524065		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102524065C>T	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.1175G>A	7.37:g.102524065C>T	ENSP00000321927:p.Cys392Tyr					FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.C392Y	p.C392Y			Q8NEE6	FXL13_HUMAN			13	1601	-			392					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1175G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086948	0.00367	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.12	-3.21	0.05140	.	2.163390	0.01497	N	0.017337	T	0.02156	0.0067	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.46119	-0.9214	10	0.45353	T	0.12	.	0.4513	0.00501	0.2894:0.1769:0.2975:0.2363	.	392;392;392	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	392	ENSP00000377367:C392Y;ENSP00000368610:C392Y;ENSP00000368607:C392Y;ENSP00000388608:C392Y;ENSP00000321927:C392Y;ENSP00000391550:C392Y	ENSP00000321927:C392Y	C	-	2	0	FBXL13	102311301	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.090000	0.15025	-0.238000	0.09724	0.655000	0.94253	TGT		0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		48	234	0	0	0	1	0	48	234					T	102524065	C	T	102524065	3	4	79	1	0	0	0	0	1	0	0	0	5734	478	17	2	1064	2	FBXL13	7	102524065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410589	102524065	56614598	8698	19015											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctaaagatgggatccgtgaGaaatatgagctcatccattt	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(433-435)Ctc>Atc		N-acyl phosphatidylethanolamine phospholipase D							160	123	136					7																	102760532		2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760532G>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.433C>A	7.37:g.102760532G>T	ENSP00000407112:p.Leu145Ile					NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I	p.L145I			Q6IQ20	NAPEP_HUMAN			3	587	-			145					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.433C>A	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313779	0.95655	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.81239	2.535	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.67725	0.953;0.889	D	0.95625	0.8684	10	0.56958	D	0.05	-16.9828	20.3334	0.98727	0.0:0.0:1.0:0.0	.	218;145	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	I	145;145;145;145;218	ENSP00000340093:L145I;ENSP00000407112:L145I;ENSP00000419188:L145I;ENSP00000392775:L145I;ENSP00000414364:L218I	ENSP00000340093:L145I	L	-	1	0	NAPEPLD	102547768	1.000000	0.71417	0.868000	0.34077	0.980000	0.70556	8.004000	0.88535	2.818000	0.97014	0.591000	0.81541	CTC		0.498	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		105	351	1	0	4.18329e-38	1	5.03435e-38	105	351					T	102760532	G	T	102760532	3	4	79	1	0	0	0	0	1	0	0	0	10204	942	33	3	760	3	NAPEPLD	7	102760532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236467	102760532	56378131	8699	19016											
DNAJC2	27000	broad.mit.edu	37	chr7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactgagttatcaaaagtaGgatctacactgttaaatgct	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	162	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(484-486)cCt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 2							92	85	88					7																	102967077		1849	4089	5938	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102967077G>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.485C>A	7.37:g.102967077G>T	ENSP00000368565:p.Pro162His					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H	p.P162H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			5	735	-			162			ZRF1-UBD.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.485C>A	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257838|4.257838	0.80246|0.80246	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	D|D	0.83631|0.83631	0.5296|0.5296	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.684;1.0	.|P;D	.|0.87578	.|0.511;0.998	D|D	0.84601|0.84601	0.0672|0.0672	5|9	.|0.72032	.|D	.|0.01	-18.9832|-18.9832	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162;162	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	I|H	151|162;162;162;88	.|.	.|ENSP00000249270:P162H	L|P	-|-	1|2	2|0	DNAJC2|DNAJC2	102754313|102754313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.955000|8.955000	0.93058|0.93058	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|CCT		0.343	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			35	180	1	0	7.16026e-08	1	7.45543e-08	35	180					T	102967077	G	T	102967077	3	4	79	1	0	0	0	0	1	0	0	0	4655	1000	35	3	1432	3	DNAJC2	7	102967077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206545	102967077	56171586	8700	19017											
PSMC2	5701	broad.mit.edu	37	chr7	103008360	103008360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgctgagattagaagCgtctgcacagaggctggtat	14	6	1	3	rs183253099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|PSMC2_ENST00000292644.3_Silent_p.S387S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S387S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0					ENST00000435765.1																			1	Substitution - coding silent(1)	p.S387S(1)	cervix(1)	breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1159-1161)agC>agT		proteasome (prosome, macropain) 26S subunit, ATPase, 2							98	95	96					7																	103008360		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008360C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1161C>T	7.37:g.103008360C>T						SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|SLC26A5_ENST00000356767.4_Intron	p.S387S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			13	1572	+			387					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.1161C>T	CCDS5731.1																																																																																				0.408	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		80	432	0	0	0	1	0	80	432					T	103008360	C	T	103008360	2	4	79	1	0	0	0	0	0	0	0	1	12733	767	27	1		1	PSMC2	7	103008360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41283	103008360	56130303	8701	19018											
SLC26A5	375611	broad.mit.edu	37	chr7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctcaggagtggcaggaGtggcattgggctccaagtcc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	738					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(2212-2214)aCt>aTt		solute carrier family 26 (anion exchanger), member 5							49	43	45					7																	103014868		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014868G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2213C>T	7.37:g.103014868G>A	ENSP00000304783:p.Thr738Ile					SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I	p.T738I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			20	2474	-			738					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.2213C>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509203	0.64522	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95918	-3.19;-3.19;-3.19;-3.85;-3.12;-3.19;-3.19	5.69	2.68	0.31781	.	0.497940	0.20465	N	0.091816	D	0.87573	0.6211	N	0.08118	0	0.09310	N	1	B;P	0.45348	0.085;0.856	B;B	0.41299	0.039;0.353	T	0.82236	-0.0557	10	0.72032	D	0.01	.	7.3653	0.26770	0.0:0.2418:0.4582:0.3	.	738;706	P58743;Q496J2	S26A5_HUMAN;.	I	738;706;706;171;701;740;708	ENSP00000304783:T738I;ENSP00000377331:T706I;ENSP00000389733:T706I;ENSP00000346325:T171I;ENSP00000377330:T701I;ENSP00000377328:T740I;ENSP00000377324:T708I	ENSP00000304783:T738I	T	-	2	0	SLC26A5	102802104	0.061000	0.20836	0.875000	0.34327	0.735000	0.41995	1.295000	0.33377	1.402000	0.46780	0.454000	0.30748	ACT		0.498	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		38	135	0	0	0	1	0	38	135					A	103014868	G	A	103014868	3	1	79	1	0	0	0	0	1	0	0	0	14570	1029	36	2	66	2	SLC26A5	7	103014868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6508	103014868	56123795	8702	19019											
SLC26A5	375611	broad.mit.edu	37	chr7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccaacgatggctatgGcaatggcatctacgtacaca	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478																																						ENST00000306312.3																			1	Substitution - Missense(1)	p.A345V(1)	large_intestine(1)	endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1033-1035)gCc>gAc		solute carrier family 26 (anion exchanger), member 5							223	174	191					7																	103033451		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103033451G>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1034C>A	7.37:g.103033451G>T	ENSP00000304783:p.Ala345Asp					SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron	p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			10	1295	-			345					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1034C>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230698	0.95207	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.97473	0.9173	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.995;0.979;0.992	D	0.97869	1.0285	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	D	345;345;345;345;345;308;345;345	ENSP00000342396:A345D;ENSP00000377336:A345D;ENSP00000304783:A345D;ENSP00000377331:A345D;ENSP00000389733:A345D;ENSP00000377330:A308D;ENSP00000377328:A345D;ENSP00000377324:A345D	ENSP00000304783:A345D	A	-	2	0	SLC26A5	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC		0.478	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		72	295	1	0	6.00099e-30	1	7.02477e-30	72	295					T	103033451	G	T	103033451	3	4	79	1	0	0	0	0	1	0	0	0	14570	1203	42	3	1285	3	SLC26A5	7	103033451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18583	103033451	56105212	8703	19020											
RELN	5649	broad.mit.edu	37	chr7	103138291	103138291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggtagagtagtccaacaGcacgccttccttccggcaga	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	RELN_ENST00000343529.5_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2976					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGTCCAACAGCACGCCTTCC	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8926-8928)Ctg>Ttg		reelin							114	89	97					7																	103138291		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138291G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8926C>T	7.37:g.103138291G>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L|RELN_ENST00000424685.2_Silent_p.L2976L	p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9085	-			2976					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8926C>T	CCDS47680.1																																																																																				0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		31	201	0	0	0	1	0	31	201					A	103138291	G	A	103138291	2	1	79	1	0	0	0	0	0	0	0	1	13270	962	34	2		2	RELN	7	103138291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104840	103138291	56000372	8704	19021											
RELN	5649	broad.mit.edu	37	chr7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggatcccccaaaaTagagtgcagtgtcctcggca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2928					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCCCAAAATAGAGTGCAGT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8782-8784)tAt>tGt		reelin							125	117	120					7																	103138584		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138584T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8783A>G	7.37:g.103138584T>C	ENSP00000392423:p.Tyr2928Cys					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C|RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C	p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8942	-			2928					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8783A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475388	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.50389	-0.8834	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2928;2928	P78509-2;P78509	.;RELN_HUMAN	C	2928;2928;2928;445;2928	ENSP00000392423:Y2928C;ENSP00000345694:Y2928C;ENSP00000388446:Y2928C	ENSP00000345694:Y2928C	Y	-	2	0	RELN	102925820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	TAT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		90	388	0	0	0	1	0	90	388					C	103138584	T	C	103138584	3	2	79	1	0	0	0	0	1	0	0	0	13270	1406	49	4	1647	4	RELN	7	103138584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	293	103138584	56000079	8705	19022											
RELN	5649	broad.mit.edu	37	chr7	103138682	103138682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatttcttcactgtcaaaGcgttccttcaggaaagtctg	8	9	5	1	rs201097384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	RELN_ENST00000343529.5_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGTCAAAGCGTTCCTTCA	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16702	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8683-8685)cgC>cgT		reelin							99	87	91					7																	103138682		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138682G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8685C>T	7.37:g.103138682G>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R|RELN_ENST00000424685.2_Silent_p.R2895R	p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8844	-			2895					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8685C>T	CCDS47680.1																																																																																				0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		58	311	0	0	0	1	0	58	311					A	103138682	G	A	103138682	2	1	79	1	0	0	0	0	0	0	0	1	13270	958	34	2		2	RELN	7	103138682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	103138682	55999981	8706	19023											
RELN	5649	broad.mit.edu	37	chr7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtagcagtttggccctgaGtatcccggatcacagatgca	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2877	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGCCCTGAGTATCCCGGAT	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8629-8631)taC>taA		reelin							232	180	197					7																	103141228		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103141228G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8631C>A	7.37:g.103141228G>T	ENSP00000392423:p.Tyr2877*					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	53	8790	-			2877			EGF-like 7.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.8631C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	50	17.167829	0.99880	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.36	4.47	0.54385	.	0.187164	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7502	0.46205	0.1447:0.0:0.8553:0.0	.	.	.	.	X	2877;2877;2877;394;2877	.	ENSP00000345694:Y2877X	Y	-	3	2	RELN	102928464	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.209000	0.51122	2.489000	0.83994	0.655000	0.94253	TAC		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	560	1	0	3.5997e-14	1	3.90403e-14	20	560					T	103141228	G	T	103141228	4	4	79	1	0	0	0	0	0	1	0	0	13270	1024	36	3	1803	3	RELN	7	103141228	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2546	103141228	55997435	8707	19024											
RELN	5649	broad.mit.edu	37	chr7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtataaggagggagagGcagagtgattctagtccact	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2444					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGGGAGAGGCAGAGTGATT	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7330-7332)Cct>Tct		reelin							159	121	134					7																	103175782		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103175782G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7330C>T	7.37:g.103175782G>A	ENSP00000392423:p.Pro2444Ser					RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	46	7489	-			2444					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7330C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843027	0.91197	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	Neuraminidase (1);	0.105231	0.64402	D	0.000002	T	0.72875	0.3515	M	0.73962	2.25	0.80722	D	1	D;P	0.67145	0.996;0.519	D;B	0.64410	0.925;0.09	T	0.74788	-0.3546	10	0.72032	D	0.01	.	19.9029	0.96995	0.0:0.0:1.0:0.0	.	2444;2444	P78509-2;P78509	.;RELN_HUMAN	S	2444	ENSP00000392423:P2444S;ENSP00000345694:P2444S;ENSP00000388446:P2444S	ENSP00000345694:P2444S	P	-	1	0	RELN	102963018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.780000	0.95670	0.655000	0.94253	CCT		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	159	0	0	0	1	0	30	159					A	103175782	G	A	103175782	3	1	79	1	0	0	0	0	1	0	0	0	13270	1203	42	2	3132	2	RELN	7	103175782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34554	103175782	55962881	8708	19025											
RELN	5649	broad.mit.edu	37	chr7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgctcggtggagcataaaGagctgacgtggctgctgctg	17	8	0	2	rs368566543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2067					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGCATAAAGAGCTGACGTG	0.597																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6199-6201)tCt>tAt		reelin							78	57	64					7																	103191616		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191616G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6200C>A	7.37:g.103191616G>T	ENSP00000392423:p.Ser2067Tyr					RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6359	-			2067					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6200C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807492	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.7	5.7	0.88788	Neuraminidase (1);	0.114362	0.64402	D	0.000008	T	0.41190	0.1148	L	0.40543	1.245	0.58432	D	0.999993	D;D	0.76494	0.995;0.999	P;D	0.76071	0.823;0.987	T	0.12243	-1.0555	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2067;2067	P78509-2;P78509	.;RELN_HUMAN	Y	2067	ENSP00000392423:S2067Y;ENSP00000345694:S2067Y;ENSP00000388446:S2067Y	ENSP00000345694:S2067Y	S	-	2	0	RELN	102978852	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	TCT		0.597	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		25	206	1	0	3.6726e-16	1	4.02855e-16	25	206					T	103191616	G	T	103191616	3	4	79	1	0	0	0	0	1	0	0	0	13270	942	33	3	4282	3	RELN	7	103191616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15834	103191616	55947047	8709	19026											
RELN	5649	broad.mit.edu	37	chr7	103197551	103197551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatccatcaggtgccaagtGattcctccactgatggagaa	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1890					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAAGTGATTCCTCCAC	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5668-5670)atC>atT		reelin							134	125	128					7																	103197551		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103197551G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5670C>T	7.37:g.103197551G>A						RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	38	5829	-			1890					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5670C>T	CCDS47680.1																																																																																				0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		64	304	0	0	0	1	0	64	304					A	103197551	G	A	103197551	2	1	79	1	0	0	0	0	0	0	0	1	13270	1280	45	2		2	RELN	7	103197551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5935	103197551	55941112	8710	19027											
RELN	5649	broad.mit.edu	37	chr7	103215993	103215993	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacacatgtatttagccttAccagtatatcccaggtcaca	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTAGCCTTACCAGTATATC	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e29+1		reelin							111	99	103					7																	103215993		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103215993A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4303+1T>C	7.37:g.103215993A>G						RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4463	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797698	0.50208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9441	0.79779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103003229	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.910000	0.92685	2.225000	0.72522	0.460000	0.39030	.		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	45	266	0	0	0	1	0	45	266					G	103215993	A	G	103215993	5	3	79	1	0	0	0	0	0	0	1	0	13270	405	14	4	6225	4	RELN	7	103215993	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18442	103215993	55922670	8711	19028											
RELN	5649	broad.mit.edu	37	chr7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaattagctgacgccGcccatctttgttgaaaacca	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2260-2262)Cgg>Tgg		reelin							74	65	68					7																	103276725		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103276725G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2260C>T	7.37:g.103276725G>A	ENSP00000392423:p.Arg754Trp					RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	18	2419	-			754					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2260C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		36	138	0	0	0	1	0	36	138					A	103276725	G	A	103276725	3	1	79	1	0	0	0	0	1	0	0	0	13270	1086	38	1	8314	1	RELN	7	103276725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60732	103276725	55861938	8712	19029											
RELN	5649	broad.mit.edu	37	chr7	103290811	103290811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtgctgcgttaggaagggGaattgttattcggttccacc	13	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000428762.1	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	638					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAGGAAGGGGAATTGTTATT	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1912-1914)Ccc>Tcc		reelin							208	179	189					7																	103290811		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103290811G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1912C>T	7.37:g.103290811G>A	ENSP00000392423:p.Pro638Ser					RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2071	-			638					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1912C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816746	0.90790	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	2.04;1.96;2.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	T	0.17410	-1.0370	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	638;638	P78509-2;P78509	.;RELN_HUMAN	S	638	ENSP00000392423:P638S;ENSP00000345694:P638S;ENSP00000388446:P638S	ENSP00000345694:P638S	P	-	1	0	RELN	103078047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.894000	0.99253	0.591000	0.81541	CCC		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	309	0	0	0	1	0	10	309					A	103290811	G	A	103290811	3	1	79	1	0	0	0	0	1	0	0	0	13270	1174	41	2	8670	2	RELN	7	103290811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14086	103290811	55847852	8713	19030											
RELN	5649	broad.mit.edu	37	chr7	103292173	103292173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagcacagatctcaggTaagcattcagtgtgaaggag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	609					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGATCTCAGGTAAGCATTCAG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1825-1827)ttA>ttG		reelin							81	66	71					7																	103292173		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103292173T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1827A>G	7.37:g.103292173T>C						RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	15	1986	-			609					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1827A>G	CCDS47680.1																																																																																				0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		28	192	0	0	0	1	0	28	192					C	103292173	T	C	103292173	2	2	79	1	0	0	0	0	0	0	0	1	13270	1635	57	4		4	RELN	7	103292173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1362	103292173	55846490	8714	19031											
ORC5L	5001	broad.mit.edu	37	chr7	103828724	103828724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgagctctttcaaatctCgacaaacagtgtagaaaact	7	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103828724C>T	ENST00000297431.4	-	6	801	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.R220Q|ORC5_ENST00000545943.1_Missense_Mutation_p.R88Q	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	220					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTCAAATCTCGACAAACAGT	0.353																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(262-264)cGa>cAa		origin recognition complex, subunit 5							89	91	91					7																	103828724		2203	4300	6503	SO:0001583	missense	5001				cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103828724C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.659G>A	7.37:g.103828724C>T	ENSP00000297431:p.Arg220Gln					ORC5_ENST00000447452.2_Missense_Mutation_p.R220Q|ORC5_ENST00000297431.4_Missense_Mutation_p.R220Q|ORC5_ENST00000485726.1_5'UTR	p.R88Q			O43913	ORC5_HUMAN			7	888	-			220					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.263G>A	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627341	0.96671	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.62639	1.6;0.6;0.01	5.43	5.43	0.79202	.	0.051598	0.64402	D	0.000001	T	0.81098	0.4752	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.79108	0.992;0.99;0.806	T	0.82768	-0.0294	10	0.59425	D	0.04	.	17.7801	0.88522	0.0:1.0:0.0:0.0	.	220;220;220	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	Q	220;88;220	ENSP00000297431:R220Q;ENSP00000438018:R88Q;ENSP00000395747:R220Q	ENSP00000297431:R220Q	R	-	2	0	ORC5	103615960	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.060000	0.76692	2.700000	0.92200	0.655000	0.94253	CGA		0.353	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		52	265	0	0	0	1	0	52	265					T	103828724	C	T	103828724	3	4	79	1	0	0	0	0	1	0	0	0	11307	884	31	1	782	1	ORC5L	7	103828724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	536551	103828724	55309939	8715	19032											
LHFPL3	375612	broad.mit.edu	37	chr7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctttctctccaagctGcctgccttgtgcttggctgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000401970.2	+	2	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000424859.1_Missense_Mutation_p.A136T|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Intron|LHFPL3_ENST00000543266.1_Intron			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	150						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398																																						ENST00000424859.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(406-408)Gcc>Acc		lipoma HMGIC fusion partner-like 3							45	42	43					7																	104377124		1882	4117	5999	SO:0001583	missense	375612					integral to membrane		g.chr7:104377124G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.406G>A	7.37:g.104377124G>A	ENSP00000385374:p.Ala136Thr					LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000401970.2_Missense_Mutation_p.A136T|LHFPL3_ENST00000535008.1_Intron	p.A136T	NM_199000.2	NP_945351.1	Q86UP9	LHPL3_HUMAN			2	572	+			136					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.406G>A		.	.	.	.	.	.	.	.	.	.	G	12.11	1.840857	0.32513	.	.	ENSG00000187416	ENST00000424859;ENST00000401970	T;T	0.71461	-0.57;-0.57	5.22	5.22	0.72569	.	0.163431	0.53938	D	0.000045	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18263	0.021;0.021	T	0.44345	-0.9334	10	0.25751	T	0.34	-15.1213	19.3361	0.94319	0.0:0.0:1.0:0.0	.	150;150	A1L384;A4D0Q5	.;.	T	136	ENSP00000393128:A136T;ENSP00000385374:A136T	ENSP00000385374:A136T	A	+	1	0	LHFPL3	104164360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.485000	0.66850	2.878000	0.98634	0.650000	0.86243	GCC		0.398	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		11	69	0	0	0	1	0	11	69					A	104377124	G	A	104377124	3	1	79	1	0	0	0	0	1	0	0	0	8798	1319	46	2	454	2	LHFPL3	7	104377124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	548400	104377124	54761539	8716	19033											
MLL5	55904	broad.mit.edu	37	chr7	104742339	104742339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtattttgaattaggaacaaGcaaaagaagaaaatgctagc	9	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104742339G>T	ENST00000311117.3	+	17	2439	c.1894G>T	c.(1894-1896)Gca>Tca	p.A632S	KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.A632S|KMT2E_ENST00000334877.4_Missense_Mutation_p.A632S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	632					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTAGGAACAAGCAAAAGAAGA	0.338																																						ENST00000334877.4																			0											c.(1894-1896)Gca>Tca		lysine (K)-specific methyltransferase 2E							32	35	34					7																	104742339		2202	4298	6500	SO:0001583	missense	55904							g.chr7:104742339G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1894G>T	7.37:g.104742339G>T	ENSP00000312379:p.Ala632Ser					KMT2E_ENST00000257745.4_Missense_Mutation_p.A632S|KMT2E_ENST00000311117.3_Missense_Mutation_p.A632S|KMT2E_ENST00000334914.7_5'UTR	p.A632S							17	2428	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1894G>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317550	0.40996	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91521	-2.86;-2.51;-2.86	5.93	4.88	0.63580	.	0.507283	0.21612	N	0.071778	D	0.85208	0.5644	L	0.38175	1.15	0.80722	D	1	B	0.27853	0.191	B	0.26770	0.073	T	0.80231	-0.1468	10	0.13470	T	0.59	.	16.0082	0.80377	0.0741:0.0:0.9259:0.0	.	632	Q8IZD2	MLL5_HUMAN	S	632;632;632;552;632	ENSP00000312379:A632S;ENSP00000335599:A632S;ENSP00000257745:A632S	ENSP00000257745:A632S	A	+	1	0	MLL5	104529575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.559000	0.60796	2.826000	0.97356	0.655000	0.94253	GCA		0.338	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			15	208	1	0	1.05317e-09	1	1.11087e-09	15	208					T	104742339	G	T	104742339	3	4	79	1	0	0	0	0	1	0	0	0	9665	971	34	3	1952	3	MLL5	7	104742339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	365215	104742339	54396324	8717	19034											
MLL5	55904	broad.mit.edu	37	chr7	104752725	104752725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcacagaaccttccaGccaatactcagcaggcaact	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104752725G>A	ENST00000311117.3	+	27	5067	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.A563T|KMT2E_ENST00000257745.4_Missense_Mutation_p.A1508T|KMT2E_ENST00000334877.4_Missense_Mutation_p.A1466T	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1508	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAACCTTCCAGCCAATACTCA	0.458																																						ENST00000334877.4																			0											c.(4396-4398)Gcc>Acc		lysine (K)-specific methyltransferase 2E							108	114	112					7																	104752725		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104752725G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4522G>A	7.37:g.104752725G>A	ENSP00000312379:p.Ala1508Thr					KMT2E_ENST00000257745.4_Missense_Mutation_p.A1508T|KMT2E_ENST00000311117.3_Missense_Mutation_p.A1508T|KMT2E_ENST00000334914.7_Missense_Mutation_p.A563T|SRPK2_ENST00000493638.1_Intron	p.A1466T							26	4930	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4396G>A	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271445|1.271445	0.23221|0.23221	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914|ENST00000393656	D;D;D;T|.	0.91521|.	-2.86;-2.53;-2.86;0.9|.	3.62|3.62	1.59|1.59	0.23543|0.23543	.|.	0.481172|.	0.17420|.	N|.	0.174859|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.004;0.0|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.09122|0.09122	-1.0689|-1.0689	10|6	0.27785|0.62326	T|D	0.31|0.03	.|.	3.7284|3.7284	0.08484|0.08484	0.1082:0.2881:0.4785:0.1252|0.1082:0.2881:0.4785:0.1252	.|.	1428;1508|.	F8W6H1;Q8IZD2|.	.;MLL5_HUMAN|.	T|M	1508;1466;1428;1508;563|1508	ENSP00000312379:A1508T;ENSP00000335599:A1466T;ENSP00000257745:A1508T;ENSP00000333986:A563T|.	ENSP00000257745:A1508T|ENSP00000377266:V1508M	A|V	+|+	1|1	0|0	MLL5|MLL5	104539961|104539961	0.749000|0.749000	0.28305|0.28305	0.940000|0.940000	0.37924|0.37924	0.931000|0.931000	0.56810|0.56810	2.070000|2.070000	0.41491|0.41491	0.637000|0.637000	0.30526|0.30526	0.455000|0.455000	0.32223|0.32223	GCC|GTG		0.458	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			68	315	0	0	0	1	0	68	315					A	104752725	G	A	104752725	3	1	79	1	0	0	0	0	1	0	0	0	9665	971	34	2	4620	2	MLL5	7	104752725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10386	104752725	54385938	8718	19035											
RINT1	60561	broad.mit.edu	37	chr7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaagtcagtgaaggtacaGataatggtgatctcccttct	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	48					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(142-144)Gat>Tat		RAD50 interactor 1							192	194	193					7																	105177065		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177065G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.142G>T	7.37:g.105177065G>T	ENSP00000257700:p.Asp48Tyr						p.D48Y	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	373	+			48					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.142G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079517	0.55753	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.2	3.35	0.38373	.	0.216469	0.45867	D	0.000324	T	0.25457	0.0619	L	0.39898	1.24	0.23266	N	0.998011	D	0.53885	0.963	P	0.45946	0.498	T	0.06356	-1.0831	10	0.59425	D	0.04	-8.8286	11.9528	0.52964	0.1471:0.0:0.8529:0.0	.	48	Q6NUQ1	RINT1_HUMAN	Y	48	ENSP00000257700:D48Y	ENSP00000257700:D48Y	D	+	1	0	RINT1	104964301	1.000000	0.71417	0.024000	0.17045	0.989000	0.77384	4.669000	0.61575	0.545000	0.28902	0.491000	0.48974	GAT		0.338	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		108	499	1	0	8.64887e-64	1	1.09215e-63	108	499					T	105177065	G	T	105177065	3	4	79	1	0	0	0	0	1	0	0	0	13426	942	33	3	152	3	RINT1	7	105177065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424340	105177065	53961598	8719	19036											
RINT1	60561	broad.mit.edu	37	chr7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagccaaagcaactcccaGaaaaatactctcttcctgcc	5	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(874-876)Gaa>Taa		RAD50 interactor 1							191	165	173					7																	105189035		2203	4300	6503	SO:0001587	stop_gained	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105189035G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.874G>T	7.37:g.105189035G>T	ENSP00000257700:p.Glu292*						p.E292*	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			7	1105	+			292			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	37	c.874G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171327	0.98688	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.78	5.78	0.91487	.	0.401672	0.28252	N	0.016022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.3046	20.0098	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000257700:E292X	E	+	1	0	RINT1	104976271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.235000	0.78143	2.719000	0.93026	0.650000	0.86243	GAA		0.423	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		110	543	1	0	2.96303e-67	1	3.7527e-67	110	543					T	105189035	G	T	105189035	4	4	79	1	0	0	0	0	0	1	0	0	13426	943	33	3	900	3	RINT1	7	105189035	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11970	105189035	53949628	8720	19037											
RINT1	60561	broad.mit.edu	37	chr7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgaatttctggatgAgaagattcagccaatattag	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	353	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1057-1059)gAg>gCg		RAD50 interactor 1							122	123	123					7																	105190563		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190563A>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1058A>C	7.37:g.105190563A>C	ENSP00000257700:p.Glu353Ala						p.E353A	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			8	1289	+			353			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1058A>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402508	0.62288	.	.	ENSG00000135249	ENST00000257700	T	0.33865	1.39	5.5	5.5	0.81552	.	0.046124	0.85682	D	0.000000	T	0.28797	0.0714	L	0.44542	1.39	0.80722	D	1	P	0.39576	0.679	B	0.34452	0.183	T	0.06588	-1.0818	10	0.13108	T	0.6	-20.0302	15.8976	0.79346	1.0:0.0:0.0:0.0	.	353	Q6NUQ1	RINT1_HUMAN	A	353	ENSP00000257700:E353A	ENSP00000257700:E353A	E	+	2	0	RINT1	104977799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.706000	0.91362	2.212000	0.71576	0.528000	0.53228	GAG		0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		55	286	0	0	0	1	0	55	286					C	105190563	A	C	105190563	3	2	79	1	0	0	0	0	1	0	0	0	13426	304	11	4	1088	4	RINT1	7	105190563	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1528	105190563	53948100	8721	19038											
RINT1	60561	broad.mit.edu	37	chr7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagcatgatatgttgaccCgtcaagtagaccacgttttt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1825-1827)Cgt>Tgt		RAD50 interactor 1							103	92	96					7																	105204333		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204333C>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1825C>T	7.37:g.105204333C>T	ENSP00000257700:p.Arg609Cys						p.R609C	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			12	2056	+			609			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1825C>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352824	0.82132	.	.	ENSG00000135249	ENST00000257700	T	0.31510	1.49	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.4485	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	609	Q6NUQ1	RINT1_HUMAN	C	609	ENSP00000257700:R609C	ENSP00000257700:R609C	R	+	1	0	RINT1	104991569	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.233000	0.51311	1.596000	0.50062	0.655000	0.94253	CGT		0.383	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		35	244	0	0	0	1	0	35	244					T	105204333	C	T	105204333	3	4	79	1	0	0	0	0	1	0	0	0	13426	652	23	1	1871	1	RINT1	7	105204333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13770	105204333	53934330	8722	19039											
CDHR3	222256	broad.mit.edu	37	chr7	105660870	105660870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaatttgtactccaAactcttatttcctggccctc	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	ENST00000317716.9	+	13	1785	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.N569D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGTACTCCAAACTCTTATTT	0.408																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1705-1707)Aac>Gac		cadherin-related family member 3							85	76	79					7																	105660870		1856	4106	5962	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660870A>G	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1705A>G	7.37:g.105660870A>G	ENSP00000325954:p.Asn569Asp					CDHR3_ENST00000317716.9_Missense_Mutation_p.N569D|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron	p.N569D			Q6ZTQ4	CDHR3_HUMAN			13	1813	+			569			Cadherin 6.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1705A>G	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859843	0.32884	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58652	0.32;0.32;1.2	5.55	0.184	0.15086	Cadherin (2);Cadherin-like (1);	0.653907	0.15506	N	0.258791	T	0.40570	0.1122	L	0.42245	1.32	0.80722	D	1	B;B	0.15141	0.006;0.012	B;B	0.11329	0.003;0.006	T	0.14980	-1.0453	10	0.10111	T	0.7	-11.2539	6.4987	0.22155	0.573:0.2928:0.1342:0.0	.	556;569	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	D	569;569;481	ENSP00000439766:N569D;ENSP00000325954:N569D;ENSP00000417771:N481D	ENSP00000325954:N569D	N	+	1	0	CDHR3	105448106	0.035000	0.19736	0.416000	0.26546	0.757000	0.42996	1.294000	0.33365	-0.213000	0.10094	-0.316000	0.08728	AAC		0.408	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		33	157	0	0	0	1	0	33	157					G	105660870	A	G	105660870	3	3	79	1	0	0	0	0	1	0	0	0	3129	14	1	4	1755	4	CDHR3	7	105660870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	456537	105660870	53477793	8723	19040											
SYPL1	6856	broad.mit.edu	37	chr7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatggataaccaaaagtagCtgtaacagttttattctcag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000011473.2	-	3	272	c.226G>T	c.(226-228)Gct>Tct	p.A76S	SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S|SYPL1_ENST00000455385.2_Missense_Mutation_p.A58S	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CCAAAAGTAGCTGTAACAGTT	0.348																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(172-174)Gct>Tct		synaptophysin-like 1							100	103	102					7																	105739626		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105739626C>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.226G>T	7.37:g.105739626C>A	ENSP00000011473:p.Ala76Ser					SYPL1_ENST00000011473.2_Missense_Mutation_p.A76S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	p.A58S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			2	294	-			76			MARVEL.		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	c.172G>T	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196287	0.78902	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.33438	1.43;1.41;1.45	5.08	5.08	0.68730	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.84326	2.69	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.64550	-0.6381	10	0.72032	D	0.01	-1.3006	17.6082	0.88045	0.0:1.0:0.0:0.0	.	76	Q16563	SYPL1_HUMAN	S	58;76;58	ENSP00000388336:A58S;ENSP00000011473:A76S;ENSP00000419070:A58S	ENSP00000011473:A76S	A	-	1	0	SYPL1	105526862	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.100000	0.57762	2.525000	0.85131	0.557000	0.71058	GCT		0.348	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			13	487	1	0	7.93312e-07	1	8.20014e-07	13	487					A	105739626	C	A	105739626	3	1	79	1	0	0	0	0	1	0	0	0	15514	797	28	3	569	3	SYPL1	7	105739626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78756	105739626	53399037	8724	19041											
PIK3CG	5294	broad.mit.edu	37	chr7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgcctccagacccgGccctagacgaggtgaggaag	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	314					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCAGACCCGGCCCTAGACGA	0.592																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(940-942)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							58	54	55					7																	106508946		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508946G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.940G>A	7.37:g.106508946G>A	ENSP00000352121:p.Ala314Thr					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T	p.A314T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1250	+			314					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.940G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749916	0.03041	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.75	5.75	0.90469	.	0.461354	0.26328	N	0.025014	T	0.46249	0.1383	N	0.24115	0.695	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.23297	-1.0192	10	0.14656	T	0.56	-25.7248	6.0442	0.19750	0.1118:0.0:0.7036:0.1846	.	314	P48736	PK3CG_HUMAN	T	314	ENSP00000392258:A314T;ENSP00000419260:A314T;ENSP00000352121:A314T	ENSP00000352121:A314T	A	+	1	0	PIK3CG	106296182	0.972000	0.33761	0.932000	0.37286	0.058000	0.15608	5.320000	0.65841	2.714000	0.92807	0.561000	0.74099	GCC		0.592	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			18	328	0	0	0	1	0	18	328					A	106508946	G	A	106508946	3	1	79	1	0	0	0	0	1	0	0	0	11958	1203	42	2	942	2	PIK3CG	7	106508946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	769320	106508946	52629717	8725	19042											
PIK3CG	5294	broad.mit.edu	37	chr7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccatgatagcgcccttGccagatttctgctgaagcgt	9	12	1	3	rs187473519		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	678	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGCGCCCTTGCCAGATTTCT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21792	0.0		0.0	False		,,,				2504	0.0					ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2032-2034)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							198	189	192					7																	106513018		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513018G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2032G>A	7.37:g.106513018G>A	ENSP00000352121:p.Ala678Thr					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T	p.A678T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			3	2342	+			678					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2032G>A	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.301109	0.95601	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.260360	0.44097	D	0.000491	T	0.67325	0.2881	L	0.55834	1.745	0.53005	D	0.999962	P	0.40875	0.731	P	0.50570	0.644	T	0.61103	-0.7130	10	0.25106	T	0.35	-13.3468	14.8206	0.70070	0.0:0.0:0.856:0.144	.	678	P48736	PK3CG_HUMAN	T	678	ENSP00000392258:A678T;ENSP00000419260:A678T;ENSP00000352121:A678T	ENSP00000352121:A678T	A	+	1	0	PIK3CG	106300254	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.420000	0.80191	2.809000	0.96659	0.655000	0.94253	GCC		0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			123	516	0	0	0	1	0	123	516					A	106513018	G	A	106513018	3	1	79	1	0	0	0	0	1	0	0	0	11958	1319	46	2	2038	2	PIK3CG	7	106513018	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4072	106513018	52625645	8726	19043											
PIK3CG	5294	broad.mit.edu	37	chr7	106513208	106513208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgagaagtgagatagcCcagtccagacactatcagca	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000440650.2_Silent_p.A704A|PIK3CG_ENST00000496166.1_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	704	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGAGATAGCCCAGTCCAGAC	0.448																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2110-2112)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							109	109	109					7																	106513208		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513208C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2112C>T	7.37:g.106513208C>T						PIK3CG_ENST00000496166.1_Silent_p.A704A|PIK3CG_ENST00000440650.2_Silent_p.A704A	p.A704A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			4	2422	+			704					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2112C>T	CCDS5739.1																																																																																				0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			67	341	0	0	0	1	0	67	341					T	106513208	C	T	106513208	2	4	79	1	0	0	0	0	0	0	0	1	11958	610	22	2		2	PIK3CG	7	106513208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	106513208	52625455	8727	19044											
PRKAR2B	5577	broad.mit.edu	37	chr7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtttttatagtatgtgCagaagcttataatcctgatg	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	CTA-360L10.1_ENST00000494849.1_RNA|PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	117	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299																																						ENST00000265717.4																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.(349-351)gCa>gTa		protein kinase, cAMP-dependent, regulatory, type II, beta							120	120	120					7																	106762403		2203	4299	6502	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106762403C>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.350C>T	7.37:g.106762403C>T	ENSP00000265717:p.Ala117Val					PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	p.A117V	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN			3	609	+			117			Dimerization and phosphorylation.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.350C>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507675	0.85282	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.84442	-1.85	5.25	5.25	0.73442	.	0.050938	0.85682	D	0.000000	D	0.90913	0.7144	M	0.77616	2.38	0.49130	D	0.999756	D	0.76494	0.999	P	0.59115	0.852	D	0.91996	0.5607	10	0.87932	D	0	-21.0737	16.1148	0.81301	0.0:1.0:0.0:0.0	.	117	P31323	KAP3_HUMAN	V	117;117;104	ENSP00000265717:A117V	ENSP00000265717:A117V	A	+	2	0	PRKAR2B	106549639	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.620000	0.67736	2.608000	0.88229	0.655000	0.94253	GCA		0.299	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			33	177	0	0	0	1	0	33	177					T	106762403	C	T	106762403	3	4	79	1	0	0	0	0	1	0	0	0	12553	710	25	2	360	2	PRKAR2B	7	106762403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249195	106762403	52376260	8728	19045											
HBP1	26959	broad.mit.edu	37	chr7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgaagacaaatcagatGcctaatgcagtacagaaact	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	10					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(28-30)atG>atA		HMG-box transcription factor 1							158	151	154					7																	106820368		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106820368G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.30G>A	7.37:g.106820368G>A	ENSP00000222574:p.Met10Ile					HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			2	216	+			10					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.30G>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222338	0.39300	.	.	ENSG00000105856	ENST00000468410;ENST00000478930;ENST00000464009;ENST00000222574;ENST00000468401;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99051	-5.37;-5.37;-5.37	5.92	5.92	0.95590	.	0.152031	0.64402	D	0.000014	D	0.97188	0.9081	N	0.24115	0.695	0.48185	D	0.9996	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.19666	0.026;0.005;0.026	D	0.93205	0.6595	10	0.72032	D	0.01	-5.92	20.3214	0.98679	0.0:0.0:1.0:0.0	.	20;10;10	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	10;10;10;10;10;10;10;10;2	ENSP00000420500:M10I;ENSP00000222574:M10I;ENSP00000418738:M10I	ENSP00000222574:M10I	M	+	3	0	HBP1	106607604	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.194000	0.65125	2.804000	0.96469	0.655000	0.94253	ATG		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		40	516	0	0	0	1	0	40	516					A	106820368	G	A	106820368	3	1	79	1	0	0	0	0	1	0	0	0	7015	1319	46	2	32	2	HBP1	7	106820368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57965	106820368	52318295	8729	19046											
DUS4L	11062	broad.mit.edu	37	chr7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagacttttatctgatgCtgctcgtatagtctgtcctt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	99							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(295-297)gCt>gTt		dihydrouridine synthase 4-like (S. cerevisiae)							269	246	253					7																	107214206		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214206C>T	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.296C>T	7.37:g.107214206C>T	ENSP00000265720:p.Ala99Val					DUS4L_ENST00000402620.1_Intron	p.A99V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			5	658	+			99					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.296C>T	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142670	0.94560	.	.	ENSG00000105865	ENST00000265720	T	0.38722	1.12	5.98	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.71560	-0.4556	10	0.49607	T	0.09	.	16.3562	0.83236	0.133:0.867:0.0:0.0	.	99	O95620	DUS4L_HUMAN	V	99	ENSP00000265720:A99V	ENSP00000265720:A99V	A	+	2	0	DUS4L	107001442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	1.473000	0.48159	0.563000	0.77884	GCT		0.378	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		181	847	0	0	0	1	0	181	847					T	107214206	C	T	107214206	3	4	79	1	0	0	0	0	1	0	0	0	4824	797	28	2	306	2	DUS4L	7	107214206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393838	107214206	51924457	8730	19047											
SLC26A4	5172	broad.mit.edu	37	chr7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtttcaaccaaaaacTacaatggagttctctctatt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	247					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCAAAAACTACAATGGAGT	0.433									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(739-741)Tac>Cac		solute carrier family 26 (anion exchanger), member 4							181	177	178					7																	107315528		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315528T>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.739T>C	7.37:g.107315528T>C	ENSP00000265715:p.Tyr247His						p.Y247H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	963	+			247					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.739T>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106534	0.20632	.	.	ENSG00000091137	ENST00000265715	D	0.92348	-3.02	5.59	4.45	0.53987	Sulphate transporter (1);	0.148487	0.46442	N	0.000296	T	0.78413	0.4279	N	0.03304	-0.355	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.70450	-0.4868	10	0.05721	T	0.95	.	11.2381	0.48953	0.0:0.0715:0.0:0.9284	.	247	O43511	S26A4_HUMAN	H	247	ENSP00000265715:Y247H	ENSP00000265715:Y247H	Y	+	1	0	SLC26A4	107102764	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.179000	0.42528	0.968000	0.38212	0.528000	0.53228	TAC		0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		138	661	0	0	0	1	0	138	661					C	107315528	T	C	107315528	3	2	79	1	0	0	0	0	1	0	0	0	14569	1522	53	4	757	4	SLC26A4	7	107315528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101322	107315528	51823135	8731	19048											
SLC26A4	5172	broad.mit.edu	37	chr7	107340571	107340571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcttagattttccagtcCtattttctatggcaatgtcg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107340571C>A	ENST00000265715.3	+	15	1882	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	553	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTTCCAGTCCTATTTTCTAT	0.313									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1657-1659)cCt>cAt		solute carrier family 26 (anion exchanger), member 4							117	121	120					7																	107340571		2202	4299	6501	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340571C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1658C>A	7.37:g.107340571C>A	ENSP00000265715:p.Pro553His					SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H	p.P553H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1882	+			553			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1658C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178307	0.78564	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.55	5.55	0.83447	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.136203	0.49305	D	0.000151	D	0.94988	0.8378	M	0.78456	2.415	0.46849	D	0.999226	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.952;0.974;0.994	D	0.95261	0.8369	10	0.87932	D	0	.	15.0415	0.71793	0.0:0.8583:0.1417:0.0	.	114;140;553	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	553;114;140;122	ENSP00000265715:P553H;ENSP00000439743:P114H;ENSP00000437427:P140H;ENSP00000441209:P122H	ENSP00000265715:P553H	P	+	2	0	SLC26A4	107127807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.847000	0.62867	2.624000	0.88883	0.563000	0.77884	CCT		0.313	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		43	212	1	0	2.24722e-20	1	2.51766e-20	43	212					A	107340571	C	A	107340571	3	1	79	1	0	0	0	0	1	0	0	0	14569	681	24	3	1712	3	SLC26A4	7	107340571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	107340571	51798092	8732	19049											
SLC26A4	5172	broad.mit.edu	37	chr7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatacagaaactaataAaaagtggacaattaagagca	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	593	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAAACTAATAAAAAGTGGACA	0.338									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1777-1779)Aaa>Caa		solute carrier family 26 (anion exchanger), member 4							83	89	87					7																	107341615		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107341615A>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1777A>C	7.37:g.107341615A>C	ENSP00000265715:p.Lys593Gln					SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q	p.K593Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			16	2001	+			593			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1777A>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884273	0.51908	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95656	-3.35;-3.71;-3.77;-3.76	5.72	4.55	0.56014	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.054607	0.64402	N	0.000001	D	0.94614	0.8264	M	0.69185	2.1	0.38988	D	0.959096	B;B;B	0.30793	0.251;0.295;0.046	B;B;B	0.37943	0.141;0.237;0.261	D	0.92680	0.6157	10	0.33141	T	0.24	.	13.0168	0.58762	0.8651:0.1348:0.0:0.0	.	154;180;593	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Q	593;154;180;162	ENSP00000265715:K593Q;ENSP00000439743:K154Q;ENSP00000437427:K180Q;ENSP00000441209:K162Q	ENSP00000265715:K593Q	K	+	1	0	SLC26A4	107128851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	0.987000	0.38709	0.533000	0.62120	AAA		0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		12	262	0	0	0	1	0	12	262					C	107341615	A	C	107341615	3	2	79	1	0	0	0	0	1	0	0	0	14569	15	1	4	1835	4	SLC26A4	7	107341615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1044	107341615	51797048	8733	19050											
CBLL1	79872	broad.mit.edu	37	chr7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttctcaaaccccacttcCtggaccacatcatccagatc	4	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	476	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1426-1428)cCt>cAt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							133	140	138					7																	107399574		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399574C>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1427C>A	7.37:g.107399574C>A	ENSP00000401277:p.Pro476His					CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	p.P476H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1894	+			476			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1427C>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.250236	0.59212	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.37411	1.2;1.2	5.15	4.26	0.50523	.	0.057309	0.64402	D	0.000001	T	0.43787	0.1263	L	0.56769	1.78	0.24350	N	0.99493	D;D	0.53885	0.963;0.963	P;P	0.49140	0.601;0.601	T	0.40794	-0.9544	10	0.87932	D	0	-1.7142	13.4661	0.61254	0.0:0.9239:0.0:0.0761	.	475;476	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	476;355;475;267	ENSP00000401277:P476H;ENSP00000222597:P475H	ENSP00000222597:P475H	P	+	2	0	CBLL1	107186810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	1.172000	0.42781	0.441000	0.28932	CCT		0.463	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		123	561	1	0	8.33822e-44	1	1.01909e-43	123	561					A	107399574	C	A	107399574	3	1	79	1	0	0	0	0	1	0	0	0	2710	681	24	3	1449	3	CBLL1	7	107399574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57959	107399574	51739089	8734	19051											
SLC26A3	1811	broad.mit.edu	37	chr7	107416898	107416898	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaataaccccaaaccttacaGcatcgataagtttccgccta	4	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	559	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.A559V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAACCTTACAGCATCGATAAG	0.383																																						ENST00000340010.5																			1	Substitution - Missense(1)	p.A559V(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.e15+1		solute carrier family 26 (anion exchanger), member 3							104	101	102					7																	107416898		2203	4300	6503	SO:0001630	splice_region_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416898G>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1677+1C>A	7.37:g.107416898G>T						SLC26A3_ENST00000422236.2_Splice_Site_p.A524_splice	p.A559_splice	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			15	1860	-			559			STAS.			Splice_Site	SNP	ENST00000340010.5	37	c.1677_splice	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938086	0.73557	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89123	-2.47;-2.47	5.98	5.11	0.69529	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.255061	0.44902	D	0.000418	D	0.90800	0.7111	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.935;0.919	P;P	0.49953	0.627;0.616	D	0.89021	0.3435	10	0.17832	T	0.49	.	15.0089	0.71533	0.0679:0.0:0.9321:0.0	.	524;559	G5E9U3;P40879	.;S26A3_HUMAN	D	524;559	ENSP00000415817:A524D;ENSP00000345873:A559D	ENSP00000345873:A559D	A	-	2	0	SLC26A3	107204134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	1.550000	0.49438	0.591000	0.81541	GCT		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	Missense_Mutation	45	257	1	0	1.76056e-25	1	2.02043e-25	45	257					T	107416898	G	T	107416898	5	4	79	1	0	0	0	0	0	0	1	0	14568	985	34	3	646	3	SLC26A3	7	107416898	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17324	107416898	51721765	8735	19052											
SLC26A3	1811	broad.mit.edu	37	chr7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgaaaattttcactccttCtggctcatacatctgtaagg	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378																																						ENST00000340010.5																			1	Substitution - Missense(1)	p.E533K(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1597-1599)Gaa>Taa		solute carrier family 26 (anion exchanger), member 3							115	108	111					7																	107416977		2203	4300	6503	SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416977C>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>T	7.37:g.107416977C>A	ENSP00000345873:p.Glu533*					SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	p.E533*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			15	1781	-			533			STAS.			Nonsense_Mutation	SNP	ENST00000340010.5	37	c.1597G>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477904	0.96291	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.82	4.93	0.64822	.	0.397106	0.29948	N	0.010784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	.	.	.	X	498;533	.	ENSP00000345873:E533X	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		46	212	1	0	3.76525e-18	1	4.17087e-18	46	212					A	107416977	C	A	107416977	4	1	79	1	0	0	0	0	0	1	0	0	14568	922	32	3	725	3	SLC26A3	7	107416977	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	107416977	51721686	8736	19053											
SLC26A3	1811	broad.mit.edu	37	chr7	107423656	107423656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtttacttacctgattGccatcaagtggataatcgta	8	7	1	1	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	371					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTACCTGATTGCCATCAAGTG	0.418																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1111-1113)ggC>ggT		solute carrier family 26 (anion exchanger), member 3		G		1,4405	2.1+/-5.4	0,1,2202	105	98	100		1113	3.5	1	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	SLC26A3	NM_000111.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		371/765	107423656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423656G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1113C>T	7.37:g.107423656G>A						SLC26A3_ENST00000422236.2_Silent_p.G336G	p.G371G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			9	1297	-			371						Silent	SNP	ENST00000340010.5	37	c.1113C>T	CCDS5748.1																																																																																				0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		93	404	0	0	0	1	0	93	404					A	107423656	G	A	107423656	2	1	79	1	0	0	0	0	0	0	0	1	14568	1306	46	2		2	SLC26A3	7	107423656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6679	107423656	51715007	8737	19054											
DLD	1738	broad.mit.edu	37	chr7	107556055	107556055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatctaaaaactttcaacgCatccttcaaaaacaggggtt	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107556055C>T	ENST00000205402.5	+	9	1070	c.789C>T	c.(787-789)cgC>cgT	p.R263R	DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000440410.1_Silent_p.R240R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	ACTTTCAACGCATCCTTCAAA	0.358																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(787-789)cgC>cgT		dihydrolipoamide dehydrogenase	NADH(DB00157)						97	97	97					7																	107556055		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107556055C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.789C>T	7.37:g.107556055C>T						DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R	p.R263R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			9	1070	+			263					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.789C>T	CCDS5749.1																																																																																				0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		7	419	0	0	0	1	0	7	419					T	107556055	C	T	107556055	2	4	79	1	0	0	0	0	0	0	0	1	4567	697	25	2		2	DLD	7	107556055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132399	107556055	51582608	8738	19055											
LAMB1	3912	broad.mit.edu	37	chr7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctttcaactcgttcaCgtatatcttctgtcaagttc	6	10	5	0	rs201609456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000222399.6	-	30	4873	c.4643G>A	c.(4642-4644)cGt>cAt	p.R1548H	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1548	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AACTCGTTCACGTATATCTTC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18465	0.0		0.001	False		,,,				2504	0.0					ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4714-4716)cGt>cAt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						200	167	179					7																	107569959		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569959C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4643G>A	7.37:g.107569959C>T	ENSP00000222399:p.Arg1548His					LAMB1_ENST00000222399.6_Missense_Mutation_p.R1548H|LAMB1_ENST00000474380.1_5'UTR	p.R1572H			P07942	LAMB1_HUMAN			28	4899	-			1548			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4715G>A	CCDS5750.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.45	3.626031	0.66901	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.78246	-1.16;-1.16	5.42	5.42	0.78866	Prefoldin (1);	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.603;1.0	B;D	0.77557	0.093;0.99	D	0.85935	0.1454	9	0.48119	T	0.1	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	1548;1572	P07942;G3XAI2	LAMB1_HUMAN;.	H	1572;1548	ENSP00000377191:R1572H;ENSP00000222399:R1548H	ENSP00000222399:R1548H	R	-	2	0	LAMB1	107357195	0.997000	0.39634	0.946000	0.38457	0.987000	0.75469	3.526000	0.53509	2.809000	0.96659	0.650000	0.86243	CGT		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		80	336	0	0	0	1	0	80	336					T	107569959	C	T	107569959	3	4	79	1	0	0	0	0	1	0	0	0	8641	536	19	1	737	1	LAMB1	7	107569959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13904	107569959	51568704	8739	19056											
LAMB1	3912	broad.mit.edu	37	chr7	107616323	107616323	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgttcattgcagttacattCtgcgtgacaagagcaacgtc	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000222399.6	-	10	1231		c.e10-1		LAMB1_ENST00000393561.1_Splice_Site|LAMB1_ENST00000393560.1_Splice_Site	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAGTTACATTCTGCGTGACAA	0.483																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.e8-1		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						73	59	64					7																	107616323		2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107616323C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1001-1G>T	7.37:g.107616323C>A						LAMB1_ENST00000222399.6_Splice_Site|LAMB1_ENST00000393560.1_Splice_Site				P07942	LAMB1_HUMAN			8	1257	-								Q14D91	Splice_Site	SNP	ENST00000222399.6	37		CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133344	0.77662	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB1	107403559	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	.		0.483	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Intron	41	165	1	0	6.2361e-21	1	7.00342e-21	41	165					A	107616323	C	A	107616323	5	1	79	1	0	0	0	0	0	0	1	0	8641	927	32	3	4460	3	LAMB1	7	107616323	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46364	107616323	51522340	8740	19057											
LAMB1	3912	broad.mit.edu	37	chr7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatgcctggaaacgaggCctcacagtcataggcgaagt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000222399.6	-	6	744	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	LAMB1_ENST00000393561.1_Missense_Mutation_p.A196T|LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	172	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGAAACGAGGCCTCACAGTCA	0.463																																						ENST00000393561.1																			1	Substitution - Missense(1)	p.A172T(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(586-588)Gcc>Acc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107	104	105					7																	107626718		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107626718C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.514G>A	7.37:g.107626718C>T	ENSP00000222399:p.Ala172Thr					LAMB1_ENST00000222399.6_Missense_Mutation_p.A172T|LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T	p.A196T			P07942	LAMB1_HUMAN			4	770	-			172			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.586G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813822	0.32053	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75367	-0.93;-0.93;-0.93	5.86	4.72	0.59763	Laminin, N-terminal (3);	.	.	.	.	T	0.52677	0.1749	N	0.04245	-0.25	0.25527	N	0.987313	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.007;0.008;0.002	T	0.39375	-0.9617	9	0.25106	T	0.35	.	11.2059	0.48769	0.0:0.0729:0.0:0.9271	.	172;172;196	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	196;172;172	ENSP00000377191:A196T;ENSP00000222399:A172T;ENSP00000377190:A172T	ENSP00000222399:A172T	A	-	1	0	LAMB1	107413954	0.363000	0.24989	1.000000	0.80357	0.476000	0.33039	-0.014000	0.12656	1.051000	0.40369	-0.302000	0.09304	GCC		0.463	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		66	380	0	0	0	1	0	66	380					T	107626718	C	T	107626718	3	4	79	1	0	0	0	0	1	0	0	0	8641	739	26	2	4962	2	LAMB1	7	107626718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10395	107626718	51511945	8741	19058											
LAMB1	3912	broad.mit.edu	37	chr7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacattttcaatgagatggCtgtcaggattcagggtctca	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000222399.6	-	4	508	c.278G>T	c.(277-279)aGc>aTc	p.S93I	U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.S117I|LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATGAGATGGCTGTCAGGATT	0.423																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(349-351)aGc>aTc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						164	139	147					7																	107638873		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638873C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.278G>T	7.37:g.107638873C>A	ENSP00000222399:p.Ser93Ile					LAMB1_ENST00000222399.6_Missense_Mutation_p.S93I|LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I	p.S117I			P07942	LAMB1_HUMAN			2	534	-			93			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.350G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603508	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976	T;T;T;T	0.77098	-1.03;-1.03;-1.03;-1.07	6.08	6.08	0.98989	Laminin, N-terminal (3);	.	.	.	.	D	0.90978	0.7163	M	0.89715	3.055	0.54753	D	0.99998	D;D;D;D	0.76494	0.998;0.988;0.999;0.999	D;D;D;D	0.79108	0.948;0.917;0.992;0.958	D	0.91522	0.5235	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	179;93;93;117	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	117;93;93;179	ENSP00000377191:S117I;ENSP00000222399:S93I;ENSP00000377190:S93I;ENSP00000412686:S179I	ENSP00000222399:S93I	S	-	2	0	LAMB1	107426109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.792000	0.55476	2.894000	0.99253	0.655000	0.94253	AGC		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		70	387	1	0	2.165e-29	1	2.52906e-29	70	387					A	107638873	C	A	107638873	3	1	79	1	0	0	0	0	1	0	0	0	8641	797	28	3	5206	3	LAMB1	7	107638873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12155	107638873	51499790	8742	19059											
LAMB4	22798	broad.mit.edu	37	chr7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaaaagcttttgggCtccatctgcttcttcattta	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1549	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCTTTTGGGCTCCATCTGCT	0.388																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4645-4647)Gcc>Acc		laminin, beta 4							220	220	220					7																	107677867		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107677867C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4645G>A	7.37:g.107677867C>T	ENSP00000373433:p.Ala1549Thr					LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000483484.1_5'UTR	p.A1549T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			30	4728	-			1549			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4645G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204673	0.58234	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.38401	1.14;1.14;1.46;1.18	4.89	3.01	0.34805	.	0.437967	0.18968	N	0.126218	T	0.34600	0.0903	L	0.39898	1.24	0.53688	D	0.99997	P;B	0.43788	0.817;0.005	P;B	0.47864	0.559;0.006	T	0.06698	-1.0812	10	0.54805	T	0.06	.	7.4753	0.27371	0.0:0.7801:0.0:0.2199	.	1549;1549	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1549;1549;575;1549	ENSP00000205386:A1549T;ENSP00000373433:A1549T;ENSP00000416562:A575T;ENSP00000373432:A1549T	ENSP00000205386:A1549T	A	-	1	0	LAMB4	107465103	0.014000	0.17966	0.430000	0.26722	0.739000	0.42172	0.892000	0.28322	0.685000	0.31468	-0.136000	0.14681	GCC		0.388	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		146	814	0	0	0	1	0	146	814					T	107677867	C	T	107677867	3	4	79	1	0	0	0	0	1	0	0	0	8644	797	28	2	660	2	LAMB4	7	107677867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38994	107677867	51460796	8743	19060											
LAMB4	22798	broad.mit.edu	37	chr7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggatttccatagtaaCcatcaatacacctgtcaaga	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D|LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	897	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCATAGTAACCATCAATACA	0.418																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2689-2691)gGt>gAt		laminin, beta 4							122	120	121					7																	107706353		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706353C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2690G>A	7.37:g.107706353C>T	ENSP00000373433:p.Gly897Asp					LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D|LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D	p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			21	2773	-			897			Laminin EGF-like 8.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2690G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237985	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.68624	-0.34;-0.34;-0.34	4.69	4.69	0.59074	EGF-like, laminin (4);	0.000000	0.52532	D	0.000073	D	0.84179	0.5415	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.6563	0.51320	0.0:0.9185:0.0:0.0815	.	897	A4D0S4	LAMB4_HUMAN	D	897	ENSP00000205386:G897D;ENSP00000373433:G897D;ENSP00000373432:G897D	ENSP00000205386:G897D	G	-	2	0	LAMB4	107493589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.535000	0.67173	2.606000	0.88127	0.563000	0.77884	GGT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		71	296	0	0	0	1	0	71	296					T	107706353	C	T	107706353	3	4	79	1	0	0	0	0	1	0	0	0	8644	507	18	2	2651	2	LAMB4	7	107706353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28486	107706353	51432310	8744	19061											
LAMB4	22798	broad.mit.edu	37	chr7	107743565	107743565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcggtcgcagtgctgCccctcagtgttgtgctggca	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000418464.1_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	368	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGCAGTGCTGCCCCTCAGTGT	0.612																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1102-1104)ggG>ggA		laminin, beta 4							61	51	55					7																	107743565		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743565C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1104G>A	7.37:g.107743565C>T						LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000414450.2_Silent_p.G368G	p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			10	1187	-			368			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1104G>A	CCDS34732.1																																																																																				0.612	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		28	127	0	0	0	1	0	28	127					T	107743565	C	T	107743565	2	4	79	1	0	0	0	0	0	0	0	1	8644	726	26	2		2	LAMB4	7	107743565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37212	107743565	51395098	8745	19062											
NRCAM	4897	broad.mit.edu	37	chr7	107790514	107790514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagtcaactaggctgtcGtcactatcttcttttttcac	5	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000425651.2	-	30	3755	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252					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)			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						CTAGGCTGTCGTCACTATCTT	0.433																																						ENST00000379028.3																			0				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						c.(3754-3756)gaC>gaT		neuronal cell adhesion molecule							217	192	201					7																	107790514		2203	4300	6503	SO:0001819	synonymous_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.chr7:107790514G>A		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.3756C>T	7.37:g.107790514G>A						NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000425651.2_Silent_p.D1252D|NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000522550.2_5'UTR	p.D1252D			Q92823	NRCAM_HUMAN			33	4226	-			1252					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.3756C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	NRCAM	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		175	724	0	0	0	1	0	175	724					A	107790514	G	A	107790514	2	1	79	1	0	0	0	0	0	0	0	1	10686	1136	40	1		1	NRCAM	7	107790514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46949	107790514	51348149	8746	19063											
NRCAM	4897	broad.mit.edu	37	chr7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccacagccctggcttgtGcattgcatcttcatattcga	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000425651.2	-	18	2064	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						CCTGGCTTGTGCATTGCATCT	0.502																																						ENST00000379028.3																			0				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						c.(2065-2067)Cac>Aac		neuronal cell adhesion molecule							76	73	74					7																	107825029		2203	4300	6503	SO:0001583	missense	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.chr7:107825029G>T		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.2065C>A	7.37:g.107825029G>T	ENSP00000401244:p.His689Asn					NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000425651.2_Missense_Mutation_p.H689N|NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N	p.H689N			Q92823	NRCAM_HUMAN			21	2535	-			689			Fibronectin type-III 1.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2065C>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213949	0.22289	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.46	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049726	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.005;0.01;0.006;0.004	T	0.15925	-1.0420	10	0.27785	T	0.31	.	15.0261	0.71671	0.0:0.0:0.8572:0.1428	.	689;670;670;673;689	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	689;689;670;689;673;670;689;689;673	ENSP00000368314:H689N;ENSP00000407858:H670N;ENSP00000325269:H673N;ENSP00000368310:H670N;ENSP00000401244:H689N;ENSP00000368308:H689N	ENSP00000325269:H673N	H	-	1	0	NRCAM	107612265	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.734000	0.74801	2.548000	0.85928	0.591000	0.81541	CAC		0.502	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		29	135	1	0	3.00307e-07	1	3.1154e-07	29	135					T	107825029	G	T	107825029	3	4	79	1	0	0	0	0	1	0	0	0	10686	1319	46	3	1931	3	NRCAM	7	107825029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34515	107825029	51313634	8747	19064											
NRCAM	4897	broad.mit.edu	37	chr7	107831702	107831702	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatattagtttaccgtaAacgggagctggagttggagt	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000425651.2	-	16	1928	c.1929T>G	c.(1927-1929)gtT>gtG	p.V643V	NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379028.3_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Silent_p.V643V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					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)			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						GTTTACCGTAAACGGGAGCTG	0.318																																						ENST00000379028.3																			0				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						c.(1927-1929)gtT>gtG		neuronal cell adhesion molecule							59	60	60					7																	107831702		1825	4081	5906	SO:0001819	synonymous_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.chr7:107831702A>C		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.1929T>G	7.37:g.107831702A>C						NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000425651.2_Silent_p.V643V|NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron	p.V643V			Q92823	NRCAM_HUMAN			19	2399	-			643					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.1929T>G	CCDS47686.1																																																																																				0.318	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	47	0	0	0	1	0	9	47					C	107831702	A	C	107831702	2	2	79	1	0	0	0	0	0	0	0	1	10686	1	1	4		4	NRCAM	7	107831702	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6673	107831702	51306961	8748	19065											
PNPLA8	50640	broad.mit.edu	37	chr7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgttatccctctatttaCtatggtacttacagcagcta	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000422087.1	-	10	2111	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000426128.2_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	569	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328																																						ENST00000422087.1																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1705-1707)Gta>Tta		patatin-like phospholipase domain containing 8							67	68	68					7																	108128376		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108128376C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1705G>T	7.37:g.108128376C>A	ENSP00000410804:p.Val569Leu					PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L	p.V569L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN			10	2111	-			569			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1705G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373240	0.95923	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.56280	1.765	0.80722	D	1	P	0.52692	0.955	P	0.54060	0.741	T	0.80926	-0.1164	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	569	Q9NP80	PLPL8_HUMAN	L	569;569;469;569;469	ENSP00000257694:V569L;ENSP00000410804:V569L;ENSP00000387789:V469L;ENSP00000406779:V569L;ENSP00000402274:V469L	ENSP00000257694:V569L	V	-	1	0	PNPLA8	107915612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GTA		0.328	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		56	248	1	0	1.42676e-28	1	1.66098e-28	56	248					A	108128376	C	A	108128376	3	1	79	1	0	0	0	0	1	0	0	0	12213	565	20	3	655	3	PNPLA8	7	108128376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296674	108128376	51010287	8749	19066											
PNPLA8	50640	broad.mit.edu	37	chr7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacttggcttaaattgaGctaaacgtgaaatcatttca	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000422087.1	-	4	786	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	127					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(379-381)gCt>gTt		patatin-like phospholipase domain containing 8							58	61	60					7																	108155556		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155556G>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.380C>T	7.37:g.108155556G>A	ENSP00000410804:p.Ala127Val					PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V	p.A127V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	505	-			127					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.380C>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450732	0.26074	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98120	-3.51;-4.73;-3.51;-4.73;-4.71;-4.73;-4.7	5.78	3.05	0.35203	.	0.352176	0.32190	N	0.006453	D	0.93602	0.7957	N	0.25890	0.77	0.25824	N	0.984256	B	0.12013	0.005	B	0.11329	0.006	D	0.85914	0.1442	10	0.36615	T	0.2	.	9.7728	0.40601	0.2568:0.0:0.7432:0.0	.	127	Q9NP80	PLPL8_HUMAN	V	127;127;127;127;27;127;27;127	ENSP00000394988:A127V;ENSP00000257694:A127V;ENSP00000373380:A127V;ENSP00000410804:A127V;ENSP00000387789:A27V;ENSP00000406779:A127V;ENSP00000402274:A27V	ENSP00000257694:A127V	A	-	2	0	PNPLA8	107942792	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.621000	0.46418	0.386000	0.24997	-1.019000	0.02448	GCT		0.318	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		22	262	0	0	0	1	0	22	262					A	108155556	G	A	108155556	3	1	79	1	0	0	0	0	1	0	0	0	12213	971	34	2	2004	2	PNPLA8	7	108155556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27180	108155556	50983107	8750	19067											
C7orf66	154907	broad.mit.edu	37	chr7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgagatatgtatccctcatGaattctagttctgtatctct	6	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393																																						ENST00000379007.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(247-249)Cat>Tat		chromosome 7 open reading frame 66							187	161	169					7																	108524165		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524165G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.247C>T	7.37:g.108524165G>A	ENSP00000368292:p.His83Tyr						p.H83Y	NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN			2	301	-			83						Missense_Mutation	SNP	ENST00000379007.2	37	c.247C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	6.269	0.417657	0.11870	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.84	1.97	0.26223	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.32289	0.143	T	0.30119	-0.9989	7	.	.	.	.	4.4772	0.11750	0.1159:0.0:0.6639:0.2202	.	83	A4D0T2	CG066_HUMAN	Y	83	.	.	H	-	1	0	C7orf66	108311401	0.228000	0.23718	0.009000	0.14445	0.085000	0.17905	0.634000	0.24614	0.552000	0.29026	0.552000	0.68991	CAT		0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		59	382	0	0	0	1	0	59	382					A	108524165	G	A	108524165	3	1	79	1	0	0	0	0	1	0	0	0	2419	1290	45	2	104	2	C7orf66	7	108524165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368609	108524165	50614498	8751	19068											
LRRN3	54674	broad.mit.edu	37	chr7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatatggaagcatctacaGtggattgtaatgatttaggt	10	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000422987.3	+	2	988	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	53	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCATCTACAGTGGATTGTAA	0.378																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(157-159)Gtg>Ttg		leucine rich repeat neuronal 3							153	140	145					7																	110762985		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110762985G>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.157G>T	7.37:g.110762985G>T	ENSP00000412417:p.Val53Leu					IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V53L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron	p.V53L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1203	+			53			LRRNT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.157G>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336120	0.81801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.52532	D	0.000068	D	0.99162	0.9710	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99364	1.0918	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	53	Q9H3W5	LRRN3_HUMAN	L	53	ENSP00000312001:V53L;ENSP00000397312:V53L;ENSP00000412417:V53L;ENSP00000407927:V53L	ENSP00000312001:V53L	V	+	1	0	LRRN3	110550221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.835000	0.97688	0.650000	0.86243	GTG		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		76	555	1	0	4.38691e-48	1	5.40915e-48	76	555					T	110762985	G	T	110762985	3	4	79	1	0	0	0	0	1	0	0	0	9074	1029	36	3	159	3	LRRN3	7	110762985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2238820	110762985	48375678	8752	19069											
DOCK4	9732	broad.mit.edu	37	chr7	111379299	111379299	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagacaacaaaggagaaGctgggaagagaaggagagag	16	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000437633.1	-	48	5352	c.5096C>T	c.(5095-5097)gCt>gTt	p.A1699V	DOCK4_ENST00000494651.2_Splice_Site_p.A582V|DOCK4_ENST00000428084.1_Splice_Site_p.A1708V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1699	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGGAGAAGCTGGGAAGAG	0.527																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e49-1		dedicator of cytokinesis 4							139	141	141					7																	111379299		2018	4194	6212	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111379299G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5096-1C>T	7.37:g.111379299G>A						DOCK4_ENST00000437633.1_Splice_Site_p.A1699_splice|DOCK4_ENST00000494651.2_Splice_Site_p.A582_splice	p.A1708_splice			Q8N1I0	DOCK4_HUMAN			49	5395	-		Acute lymphoblastic leukemia(1;0.0441)	1699			Ser-rich.		O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.5122_splice	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409646|4.409646	0.83340|0.83340	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.049928|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.43152|0.43152	1.355|1.355	0.45046|0.45046	D|D	0.998063|0.998063	B;B;P;P;P;D|.	0.67145|.	0.31;0.437;0.593;0.534;0.664;0.996|.	B;B;B;B;B;P|.	0.61658|.	0.175;0.327;0.327;0.175;0.327;0.892|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.22109|.	T|.	0.4|.	.|.	16.8106|16.8106	0.85717|0.85717	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	606;582;1744;1699;1708;12|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	V|F	1687;1708;582;1699;1696|1160;1732	ENSP00000410746:A1708V;ENSP00000440944:A582V;ENSP00000404179:A1699V|.	ENSP00000345432:A1696V|.	A|L	-|-	2|1	0|0	DOCK4|DOCK4	111166535|111166535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.463000|4.463000	0.60128|0.60128	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.527	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Missense_Mutation	48	231	0	0	0	1	0	48	231					A	111379299	G	A	111379299	5	1	79	1	0	0	0	0	0	0	1	0	4705	985	34	2	824	2	DOCK4	7	111379299	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616314	111379299	47759364	8753	19070											
DOCK4	9732	broad.mit.edu	37	chr7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgtctaggaattaccCtggtaccatctgggctcaca	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000437633.1	-	45	5130	c.4874G>T	c.(4873-4875)aGg>aTg	p.R1625M	DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M|DOCK4_ENST00000428084.1_Missense_Mutation_p.R1634M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1625					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGGAATTACCCTGGTACCATC	0.463																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4900-4902)aGg>aTg		dedicator of cytokinesis 4							72	69	70					7																	111381614		1887	4123	6010	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111381614C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4874G>T	7.37:g.111381614C>A	ENSP00000404179:p.Arg1625Met					DOCK4_ENST00000437633.1_Missense_Mutation_p.R1625M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M	p.R1634M			Q8N1I0	DOCK4_HUMAN			46	5173	-		Acute lymphoblastic leukemia(1;0.0441)	1625					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4901G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869810|3.869810	0.72065|0.72065	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.08370	.|3.9;3.1;3.89	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.143180	.|0.64402	.|D	.|0.000010	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.47716|0.47716	1.5|1.5	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D;D;D	.|0.76494	.|0.995;0.997;0.999;0.999;0.997	.|D;D;D;D;D	.|0.71414	.|0.922;0.973;0.96;0.96;0.973	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.72032	.|D	.|0.01	.|.	14.0431|14.0431	0.64689|0.64689	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	.|532;508;1670;1625;1634	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	W|M	1086;1658|1613;1634;508;1625;1622	.|ENSP00000410746:R1634M;ENSP00000440944:R508M;ENSP00000404179:R1625M	.|ENSP00000345432:R1622M	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111168850|111168850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.359000|5.359000	0.66074|0.66074	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	95	1	0	6.5536e-12	1	7.0158e-12	7	95					A	111381614	C	A	111381614	3	1	79	1	0	0	0	0	1	0	0	0	4705	681	24	3	1058	3	DOCK4	7	111381614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315	111381614	47757049	8754	19071											
DOCK4	9732	broad.mit.edu	37	chr7	111386404	111386404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctgctcaagcatcaGctctcttaatcgtgcaattt	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000437633.1	-	43	4892	c.4636C>T	c.(4636-4638)Ctg>Ttg	p.L1546L	DOCK4_ENST00000494651.2_Silent_p.L429L|DOCK4_ENST00000428084.1_Silent_p.L1555L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4663-4665)Ctg>Ttg		dedicator of cytokinesis 4							99	97	98					7																	111386404		1909	4136	6045	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111386404G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4636C>T	7.37:g.111386404G>A						DOCK4_ENST00000437633.1_Silent_p.L1546L|DOCK4_ENST00000494651.2_Silent_p.L429L	p.L1555L			Q8N1I0	DOCK4_HUMAN			44	4935	-		Acute lymphoblastic leukemia(1;0.0441)	1546			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4663C>T	CCDS47688.1																																																																																				0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	64	0	0	0	1	0	13	64					A	111386404	G	A	111386404	2	1	79	1	0	0	0	0	0	0	0	1	4705	962	34	2		2	DOCK4	7	111386404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4790	111386404	47752259	8755	19072											
DOCK4	9732	broad.mit.edu	37	chr7	111422941	111422941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctaactgtgcagccAatctttttgccatctacctc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000437633.1	-	34	3793	c.3537T>C	c.(3535-3537)atT>atC	p.I1179I	DOCK4_ENST00000494651.2_Silent_p.I62I|DOCK4_ENST00000428084.1_Silent_p.I1188I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1179					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGTGCAGCCAATCTTTTTGC	0.383																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3562-3564)atT>atC		dedicator of cytokinesis 4							182	176	178					7																	111422941		1844	4085	5929	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111422941A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3537T>C	7.37:g.111422941A>G						DOCK4_ENST00000437633.1_Silent_p.I1179I|DOCK4_ENST00000494651.2_Silent_p.I62I	p.I1188I			Q8N1I0	DOCK4_HUMAN			35	3836	-		Acute lymphoblastic leukemia(1;0.0441)	1179			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.3564T>C	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315908	0.23908	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.42	2.95	0.34219	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51710	-0.8671	4	.	.	.	.	9.209	0.37306	0.8401:0.0:0.1599:0.0	.	.	.	.	S	640;1212	.	.	L	-	2	0	DOCK4	111210177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.018000	0.40991	0.401000	0.25424	0.455000	0.32223	TTG		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		79	461	0	0	0	1	0	79	461					G	111422941	A	G	111422941	2	3	79	1	0	0	0	0	0	0	0	1	4705	126	5	4		4	DOCK4	7	111422941	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36537	111422941	47715722	8756	19073											
DOCK4	9732	broad.mit.edu	37	chr7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcctggaactggaaccGcattgctgagctggatggct	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000437633.1	-	25	2969	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2713-2715)Cgg>Tgg		dedicator of cytokinesis 4							160	158	159					7																	111484842		2049	4201	6250	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484842G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2713C>T	7.37:g.111484842G>A	ENSP00000404179:p.Arg905Trp					DOCK4_ENST00000437633.1_Missense_Mutation_p.R905W	p.R905W			Q8N1I0	DOCK4_HUMAN			25	2985	-		Acute lymphoblastic leukemia(1;0.0441)	905					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2713C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	DOCK4	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		79	441	0	0	0	1	0	79	441					A	111484842	G	A	111484842	3	1	79	1	0	0	0	0	1	0	0	0	4705	1086	38	1	3299	1	DOCK4	7	111484842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61901	111484842	47653821	8757	19074											
DOCK4	9732	broad.mit.edu	37	chr7	111508079	111508079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccctttgctctcttgCgaaagaaagaaacggactga	9	11	1	4	rs368007039	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000437633.1	-	22	2497	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000428084.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	747					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTCTTGCGAAAGAAAGA	0.423																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2239-2241)tcG>tcA		dedicator of cytokinesis 4		C		0,3766		0,0,1883	53	55	54		2241	-11.9	0	7		54	1,8209		0,1,4104	no	coding-synonymous	DOCK4	NM_014705.3		0,1,5987	TT,TC,CC		0.0122,0.0,0.0084		747/1967	111508079	1,11975	1883	4105	5988	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111508079C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2241G>A	7.37:g.111508079C>T						DOCK4_ENST00000437633.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR	p.S747S			Q8N1I0	DOCK4_HUMAN			22	2513	-		Acute lymphoblastic leukemia(1;0.0441)	747					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2241G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707583	0.15239	0.0	1.22E-4	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64228	-0.6457	4	.	.	.	.	6.0838	0.19956	0.2955:0.1037:0.5199:0.0809	.	.	.	.	H	199;735	.	.	R	-	2	0	DOCK4	111295315	0.000000	0.05858	0.007000	0.13788	0.970000	0.65996	-2.495000	0.00971	-5.305000	0.00017	-1.517000	0.00937	CGC		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		18	68	0	0	0	1	0	18	68					T	111508079	C	T	111508079	2	4	79	1	0	0	0	0	0	0	0	1	4705	755	27	1		1	DOCK4	7	111508079	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23237	111508079	47630584	8758	19075											
DOCK4	9732	broad.mit.edu	37	chr7	111575597	111575597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcccatacactcacctGcattggagccagtcaagtta	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111575597G>A	ENST00000437633.1	-	12	1320	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	DOCK4_ENST00000428084.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	355					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACACTCACCTGCATTGGAGCC	0.408																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1063-1065)gCa>gTa		dedicator of cytokinesis 4							226	228	227					7																	111575597		2041	4180	6221	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111575597G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1064C>T	7.37:g.111575597G>A	ENSP00000404179:p.Ala355Val					DOCK4_ENST00000437633.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR	p.A355V			Q8N1I0	DOCK4_HUMAN			12	1336	-		Acute lymphoblastic leukemia(1;0.0441)	355					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1064C>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.443560|3.443560	0.63067|0.63067	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03065|.	4.06;4.06|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.110120|.	0.64402|.	D|.	0.000004|.	T|.	0.52386|.	0.1731|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25955|.	0.138;0.128;0.128|.	B;B;B|.	0.29353|.	0.045;0.101;0.045|.	T|.	0.45498|.	-0.9257|.	10|.	0.19147|.	T|.	0.46|.	.|.	20.0137|20.0137	0.97470|0.97470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355;355;355|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	V|X	343;355;355;343;354|343	ENSP00000410746:A355V;ENSP00000404179:A355V|.	ENSP00000345432:A343V|.	A|Q	-|-	2|1	0|0	DOCK4|DOCK4	111362833|111362833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.334000|9.334000	0.96470|0.96470	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		10	356	0	0	0	1	0	10	356					A	111575597	G	A	111575597	3	1	79	1	0	0	0	0	1	0	0	0	4705	1319	46	2	5000	2	DOCK4	7	111575597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67518	111575597	47563066	8759	19076											
DOCK4	9732	broad.mit.edu	37	chr7	111617186	111617186	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatctccacgtgcaggtaCctgattggccggttctcttt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000437633.1	-	8	958		c.e8+1		DOCK4_ENST00000428084.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGTGCAGGTACCTGATTGGCC	0.423																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e8+1		dedicator of cytokinesis 4							77	72	74					7																	111617186		1937	4131	6068	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617186C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.701+1G>A	7.37:g.111617186C>T						DOCK4_ENST00000437633.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site				Q8N1I0	DOCK4_HUMAN			8	974	-		Acute lymphoblastic leukemia(1;0.0441)						O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37		CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533283	0.85812	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111404422	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.463000	0.80869	2.527000	0.85204	0.563000	0.77884	.		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron	14	72	0	0	0	1	0	14	72					T	111617186	C	T	111617186	5	4	79	1	0	0	0	0	0	0	1	0	4705	521	18	2	5378	2	DOCK4	7	111617186	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41589	111617186	47521477	8760	19077											
ZNF277	11179	broad.mit.edu	37	chr7	111936363	111936363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcttcagaaacagagActggtaagaattgtttttaa	10	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	154					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(460-462)agA>agG		zinc finger protein 277							53	57	56					7																	111936363		2199	4283	6482	SO:0001819	synonymous_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111936363A>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.462A>G	7.37:g.111936363A>G						ZNF277_ENST00000450657.1_Silent_p.R154R	p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			4	591	+			154					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.462A>G	CCDS5755.2																																																																																				0.274	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		35	234	0	0	0	1	0	35	234					G	111936363	A	G	111936363	2	3	79	1	0	0	0	0	0	0	0	1	17865	272	10	4		4	ZNF277	7	111936363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319177	111936363	47202300	8761	19078											
ZNF277	11179	broad.mit.edu	37	chr7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggatgcacacgaatTtgatcttctcaaaataaagt	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	327					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(979-981)tTt>tGt		zinc finger protein 277							146	140	143					7																	111979911		2201	4297	6498	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111979911T>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.980T>G	7.37:g.111979911T>G	ENSP00000354501:p.Phe327Cys					AC004112.4_ENST00000431064.1_RNA	p.F327C	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			10	1109	+			327					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.980T>G	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210912	0.79240	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.64618	-0.11;-0.11	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85404	0.1133	10	0.87932	D	0	-21.357	16.3035	0.82836	0.0:0.0:0.0:1.0	.	327	Q9NRM2	ZN277_HUMAN	C	327;38	ENSP00000354501:F327C;ENSP00000415735:F38C	ENSP00000354501:F327C	F	+	2	0	ZNF277	111767147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.798000	0.75155	2.299000	0.77371	0.528000	0.53228	TTT		0.313	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		55	296	0	0	0	1	0	55	296					G	111979911	T	G	111979911	3	3	79	1	0	0	0	0	1	0	0	0	17865	1841	64	4	1018	4	ZNF277	7	111979911	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43548	111979911	47158752	8762	19079											
IFRD1	3475	broad.mit.edu	37	chr7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttttacctaataggtGgccagcatcgaaatgttcag	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(97-99)Ggc>Agc		interferon-related developmental regulator 1							120	115	116					7																	112095820		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112095820G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.97G>A	7.37:g.112095820G>A	ENSP00000384477:p.Gly33Ser					IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S	p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			2	358	+			33					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.97G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015458	0.93404	.	.	ENSG00000006652	ENST00000005558;ENST00000445335;ENST00000403825;ENST00000429071	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.094278	0.64402	D	0.000001	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P;B	0.48294	0.908;0.141	B;B	0.41374	0.355;0.057	T	0.08994	-1.0695	10	0.29301	T	0.29	-17.5418	18.7821	0.91937	0.0:0.0:1.0:0.0	.	33;33	C9JA65;O00458	.;IFRD1_HUMAN	S	33	ENSP00000005558:G33S;ENSP00000384477:G33S	ENSP00000005558:G33S	G	+	1	0	IFRD1	111883056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.506000	0.84524	0.460000	0.39030	GGC		0.338	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		68	357	0	0	0	1	0	68	357					A	112095820	G	A	112095820	3	1	79	1	0	0	0	0	1	0	0	0	7583	1348	47	2	103	2	IFRD1	7	112095820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115909	112095820	47042843	8763	19080											
IFRD1	3475	broad.mit.edu	37	chr7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcaattgaaacaatgAgccattgcagtggttatagc	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	52					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(154-156)Agc>Tgc		interferon-related developmental regulator 1							150	144	146					7																	112095877		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112095877A>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.154A>T	7.37:g.112095877A>T	ENSP00000384477:p.Ser52Cys					IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C	p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			2	415	+			52					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.154A>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851288	0.91355	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.60171	0.21;0.21;0.43	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.947;1.0	T	0.82657	-0.0349	10	0.87932	D	0	-21.3305	15.0963	0.72238	1.0:0.0:0.0:0.0	.	52;52	C9JA65;O00458	.;IFRD1_HUMAN	C	52;2;52;52;52;2;2;2	ENSP00000005558:S52C;ENSP00000384477:S52C;ENSP00000439188:S2C	ENSP00000005558:S52C	S	+	1	0	IFRD1	111883113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.622000	0.90953	2.026000	0.59711	0.377000	0.23210	AGC		0.358	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		71	404	0	0	0	1	0	71	404					T	112095877	A	T	112095877	3	4	79	1	0	0	0	0	1	0	0	0	7583	304	11	5	160	5	IFRD1	7	112095877	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	112095877	47042786	8764	19081											
IFRD1	3475	broad.mit.edu	37	chr7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcttaaaacgatgaagatTtctcgtttcgaaagggtagg	11	6	1	2	rs574598683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1249-1251)atT>atG		interferon-related developmental regulator 1							121	123	122					7																	112112901		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112901T>G	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1251T>G	7.37:g.112112901T>G	ENSP00000384477:p.Ile417Met					IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	p.I417M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			11	1512	+			417					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1251T>G	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411736	0.62399	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.81	2.13	0.27403	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.56863	0.2014	M	0.66939	2.045	0.38321	D	0.943524	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.58216	-0.7675	10	0.72032	D	0.01	-32.4626	1.1524	0.01789	0.1586:0.223:0.1187:0.4997	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	M	417;417;152;367;80	ENSP00000005558:I417M;ENSP00000384477:I417M;ENSP00000439188:I367M;ENSP00000435635:I80M	ENSP00000005558:I417M	I	+	3	3	IFRD1	111900137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.129000	0.18514	0.519000	0.50382	ATT		0.373	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		43	375	0	0	0	1	0	43	375					G	112112901	T	G	112112901	3	3	79	1	0	0	0	0	1	0	0	0	7583	1829	64	4	1293	4	IFRD1	7	112112901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17024	112112901	47025762	8765	19082											
C7orf53	286006	broad.mit.edu	37	chr7	112129971	112129971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgtaaagcgactcaaCcaactcaaccaactggactc	6	13	2	1	rs372597380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112129971C>T	ENST00000312849.4	+	4	724	c.363C>T	c.(361-363)aaC>aaT	p.N121N	LSMEM1_ENST00000439068.2_Silent_p.N121N|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	121						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGCGACTCAACCAACTCAACC	0.398																																						ENST00000312849.4																			0											c.(361-363)aaC>aaT		leucine-rich single-pass membrane protein 1							164	153	157					7																	112129971		2203	4300	6503	SO:0001819	synonymous_variant	286006							g.chr7:112129971C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.363C>T	7.37:g.112129971C>T						LSMEM1_ENST00000439068.2_Silent_p.N121N|LSMEM1_ENST00000486022.1_3'UTR	p.N121N	NM_182597.2	NP_872403.1					4	724	+								Q49AR6	Silent	SNP	ENST00000312849.4	37	c.363C>T	CCDS5756.1																																																																																				0.398	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		92	562	0	0	0	1	0	92	562					T	112129971	C	T	112129971	2	4	79	1	0	0	0	0	0	0	0	1	2409	506	18	2		2	C7orf53	7	112129971	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17070	112129971	47008692	8766	19083											
TMEM168	64418	broad.mit.edu	37	chr7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccaaaatcgctgttgcaaGaagactaaagaacaccaact	6	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	365						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1093-1095)Ctt>Ttt		transmembrane protein 168							128	127	127					7																	112423788		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423788G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1093C>T	7.37:g.112423788G>A	ENSP00000323068:p.Leu365Phe					TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1653	-			365					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1093C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016265	0.19355	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	6.07	5.17	0.71159	.	0.175518	0.51477	D	0.000081	T	0.45418	0.1341	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38308	-0.9667	9	0.37606	T	0.19	-12.9641	7.6742	0.28476	0.0658:0.1217:0.6864:0.1262	.	365	Q9H0V1	TM168_HUMAN	F	365;365;5;17	.	ENSP00000323068:L365F	L	-	1	0	TMEM168	112211024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.901000	0.28445	1.513000	0.48852	0.655000	0.94253	CTT		0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		117	514	0	0	0	1	0	117	514					A	112423788	G	A	112423788	3	1	79	1	0	0	0	0	1	0	0	0	16135	942	33	2	1016	2	TMEM168	7	112423788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293817	112423788	46714875	8767	19084											
TMEM168	64418	broad.mit.edu	37	chr7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaagaatccaaaccAaagattggagagacttaaac	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	98						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATCCAAACCAAAGATTGGAG	0.323																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(292-294)Tgg>Cgg		transmembrane protein 168							74	77	76					7																	112424589		2203	4299	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424589A>G		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.292T>C	7.37:g.112424589A>G	ENSP00000323068:p.Trp98Arg					TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	852	-			98					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.292T>C	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101989	0.56183	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	T	0.71397	-0.4605	9	0.72032	D	0.01	-11.3609	16.6245	0.84952	1.0:0.0:0.0:0.0	.	98	Q9H0V1	TM168_HUMAN	R	98	.	ENSP00000323068:W98R	W	-	1	0	TMEM168	112211825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.323000	0.78572	0.528000	0.53228	TGG		0.323	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		34	192	0	0	0	1	0	34	192					G	112424589	A	G	112424589	3	3	79	1	0	0	0	0	1	0	0	0	16135	130	5	4	1817	4	TMEM168	7	112424589	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	112424589	46714074	8768	19085											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519452	113519452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcggtatgttcgctcagCagagtagccaggtctctgtt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	565					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTCGCTCAGCAGAGTAGCCA	0.458																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1693-1695)ctG>ctA		protein phosphatase 1, regulatory subunit 3A							116	107	110					7																	113519452		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519452C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1695G>A	7.37:g.113519452C>T							p.L565L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1763	-			565					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1695G>A	CCDS5759.1																																																																																				0.458	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		69	409	0	0	0	1	0	69	409					T	113519452	C	T	113519452	2	4	79	1	0	0	0	0	0	0	0	1	12418	697	25	2		2	PPP1R3A	7	113519452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094863	113519452	45619211	8769	19086											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgacgtatctgaatggaaatCtcttcgtaaacatcccaaat	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	488					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGGAAATCTCTTCGTAAA	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1462-1464)Gat>Tat		protein phosphatase 1, regulatory subunit 3A							63	60	61					7																	113519685		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519685C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1462G>T	7.37:g.113519685C>A	ENSP00000284601:p.Asp488Tyr						p.D488Y	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1530	-			488					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1462G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477870	0.26511	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.48836	1.96;0.8	5.24	4.33	0.51752	.	0.721310	0.12943	N	0.426442	T	0.65439	0.2691	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.55283	-0.8165	10	0.87932	D	0	-2.0215	10.4417	0.44469	0.0:0.9061:0.0:0.0939	.	488	Q16821	PPR3A_HUMAN	Y	488;167	ENSP00000284601:D488Y;ENSP00000401278:D167Y	ENSP00000284601:D488Y	D	-	1	0	PPP1R3A	113306921	0.014000	0.17966	0.154000	0.22540	0.016000	0.09150	1.226000	0.32563	1.144000	0.42321	0.561000	0.74099	GAT		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		40	217	1	0	5.59293e-11	1	5.94944e-11	40	217					A	113519685	C	A	113519685	3	1	79	1	0	0	0	0	1	0	0	0	12418	913	32	3	1910	3	PPP1R3A	7	113519685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	113519685	45618978	8770	19087											
PPP1R3A	5506	broad.mit.edu	37	chr7	113522121	113522121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaattctttttcattatgTtcatcatgttccctgtttac	3	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	313					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCATTATGTTCATCATGTT	0.383																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(937-939)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							248	199	215					7																	113522121		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113522121T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.939A>G	7.37:g.113522121T>C							p.E313E	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			3	1007	-			313					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.939A>G	CCDS5759.1																																																																																				0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		31	446	0	0	0	1	0	31	446					C	113522121	T	C	113522121	2	2	79	1	0	0	0	0	0	0	0	1	12418	1722	60	4		4	PPP1R3A	7	113522121	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2436	113522121	45616542	8771	19088											
FOXP2	93986	broad.mit.edu	37	chr7	114269970	114269970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacaacagcagcaGcaacaacaacaacaacagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114269970G>A	ENST00000393494.2	+	5	786	c.507G>A	c.(505-507)caG>caA	p.Q169Q	FOXP2_ENST00000393498.2_Silent_p.Q149Q|FOXP2_ENST00000393500.3_Silent_p.Q94Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q186Q|FOXP2_ENST00000378237.3_Silent_p.Q169Q|FOXP2_ENST00000350908.4_Silent_p.Q169Q|FOXP2_ENST00000393489.3_Silent_p.Q77Q|FOXP2_ENST00000360232.4_Silent_p.Q169Q|FOXP2_ENST00000408937.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q77Q|FOXP2_ENST00000390668.3_Silent_p.Q193Q			O15409	FOXP2_HUMAN	forkhead box P2	169	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacagcagcagcaacaacaac	0.502																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(280-282)caG>caA		forkhead box P2							36	35	35					7																	114269970		2203	4292	6495	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269970G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.507G>A	7.37:g.114269970G>A						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q186Q|FOXP2_ENST00000393489.3_Silent_p.Q77Q|FOXP2_ENST00000360232.4_Silent_p.Q169Q|FOXP2_ENST00000378237.3_Silent_p.Q169Q|FOXP2_ENST00000408937.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q149Q|FOXP2_ENST00000350908.4_Silent_p.Q169Q|FOXP2_ENST00000393491.3_Silent_p.Q77Q|FOXP2_ENST00000393494.2_Silent_p.Q169Q|FOXP2_ENST00000390668.3_Silent_p.Q193Q	p.Q94Q			O15409	FOXP2_HUMAN			11	1102	+			169			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.282G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		35	213	0	0	0	1	0	35	213					A	114269970	G	A	114269970	2	1	79	1	0	0	0	0	0	0	0	1	6054	962	34	2		2	FOXP2	7	114269970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	747849	114269970	44868693	8772	19089											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	332						7	332	---	---	---	---	-	114270018	CAG	-	114270016	7	5	79	1	0	1	0	1	0	0	0	0	6054	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	46	114270016	44868647	8773	19090											
FOXP2	93986	broad.mit.edu	37	chr7	114282577	114282577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctcactactaacaattcCtcctcgactacctcctccaa	2	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000393494.2	+	7	1167	c.888C>A	c.(886-888)tcC>tcA	p.S296S	FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000390668.3_Silent_p.S320S			O15409	FOXP2_HUMAN	forkhead box P2	296				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). {ECO:0000305}.	camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(661-663)tcC>tcA		forkhead box P2							241	209	220					7																	114282577		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114282577C>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.888C>A	7.37:g.114282577C>A						FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000393494.2_Silent_p.S296S|FOXP2_ENST00000390668.3_Silent_p.S320S	p.S221S			O15409	FOXP2_HUMAN			13	1483	+			296			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.663C>A	CCDS5760.1																																																																																				0.443	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		51	434	1	0	1.51926e-22	1	1.72e-22	51	434					A	114282577	C	A	114282577	2	1	79	1	0	0	0	0	0	0	0	1	6054	668	24	3		3	FOXP2	7	114282577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12561	114282577	44856086	8774	19091											
MDFIC	29969	broad.mit.edu	37	chr7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtgaatcatcagactgCttggaaatctgtatggaatg	11	5	3	2	rs200421830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1021-1023)tgC>tgA		MyoD family inhibitor domain containing							286	253	264					7																	114655944		2203	4300	6503	SO:0001587	stop_gained	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655944C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.696C>A	7.37:g.114655944C>A	ENSP00000377126:p.Cys232*					MDFIC_ENST00000393486.1_Nonsense_Mutation_p.C232*	p.C341*			Q9P1T7	MDFIC_HUMAN			5	1286	+			232						Nonsense_Mutation	SNP	ENST00000393486.1	37	c.1023C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466091	0.96257	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.64	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2707	8.9423	0.35738	0.0:0.3193:0.0:0.6807	.	.	.	.	X	341;232	.	ENSP00000257724:C341X	C	+	3	2	MDFIC	114443180	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.336000	0.33850	0.117000	0.18138	-0.471000	0.05019	TGC		0.403	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		158	723	1	0	1.893e-82	1	2.42261e-82	158	723					A	114655944	C	A	114655944	4	1	79	1	0	0	0	0	0	1	0	0	9446	805	28	3	1083	3	MDFIC	7	114655944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373367	114655944	44482719	8775	19092											
TFEC	22797	broad.mit.edu	37	chr7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggctctgctgtttggtgAcatgagcacctaaatcaacc	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	247					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(739-741)gTc>gCc		transcription factor EC							124	125	125					7																	115580909		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580909A>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.740T>C	7.37:g.115580909A>G	ENSP00000265440:p.Val247Ala					TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	p.V247A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	920	-			247					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.740T>C	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042192	0.35989	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64803	-0.12;-0.12;-0.12	5.04	3.86	0.44501	.	0.308377	0.35378	N	0.003250	T	0.54498	0.1862	L	0.48877	1.53	0.42132	D	0.991472	B;B	0.32302	0.359;0.363	B;B	0.37601	0.108;0.254	T	0.50224	-0.8853	10	0.18710	T	0.47	-0.6008	11.2959	0.49277	0.924:0.0:0.076:0.0	.	218;247	O14948-2;O14948	.;TFEC_HUMAN	A	247;180;218	ENSP00000265440:V247A;ENSP00000387650:V180A;ENSP00000318676:V218A	ENSP00000265440:V247A	V	-	2	0	TFEC	115368145	1.000000	0.71417	0.906000	0.35671	0.899000	0.52679	3.858000	0.55979	2.012000	0.59069	0.528000	0.53228	GTC		0.468	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		95	494	0	0	0	1	0	95	494					G	115580909	A	G	115580909	3	3	79	1	0	0	0	0	1	0	0	0	15854	275	10	4	307	4	TFEC	7	115580909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	924965	115580909	43557754	8776	19093											
TFEC	22797	broad.mit.edu	37	chr7	115580986	115580986	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcctgaatttctagttcCtgtaatttcaaacgaaaatc	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580986C>A	ENST00000265440.7	-	8	844		c.e8-1		TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000457268.1_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC						cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTTCTAGTTCCTGTAATTTCA	0.378																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.e8-1		transcription factor EC							57	59	58					7																	115580986		2189	4295	6484	SO:0001630	splice_region_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580986C>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.664-1G>T	7.37:g.115580986C>A						TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000457268.1_Splice_Site		NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	844	-								B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Splice_Site	SNP	ENST00000265440.7	37		CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270198	0.80469	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFEC	115368222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.353000	0.79414	2.594000	0.87642	0.650000	0.86243	.		0.378	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	Intron	70	294	1	0	4.6872e-13	1	5.05235e-13	70	294					A	115580986	C	A	115580986	5	1	79	1	0	0	0	0	0	0	1	0	15854	695	24	3	384	3	TFEC	7	115580986	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	115580986	43557677	8777	19094											
TFEC	22797	broad.mit.edu	37	chr7	115582018	115582018	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccaattctcgggctcTctgttgttctttttgtagcc	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000484212.1_Silent_p.R288R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	198					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(592-594)Aga>Cga		transcription factor EC							210	202	205					7																	115582018		2203	4300	6503	SO:0001819	synonymous_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115582018T>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.592A>C	7.37:g.115582018T>G						TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R	p.R198R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		7	772	-			198					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	37	c.592A>C	CCDS5762.1																																																																																				0.418	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		147	606	0	0	0	1	0	147	606					G	115582018	T	G	115582018	2	3	79	1	0	0	0	0	0	0	0	1	15854	1559	54	4		4	TFEC	7	115582018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1032	115582018	43556645	8778	19095											
TFEC	22797	broad.mit.edu	37	chr7	115614303	115614303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgattatatcctcaataacgTcctccatctagcaaaatata	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115614303T>C	ENST00000265440.7	-	3	368	c.188A>G	c.(187-189)gAc>gGc	p.D63G	TFEC_ENST00000484212.1_Missense_Mutation_p.D153G|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	63	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCAATAACGTCCTCCATCTA	0.343																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(187-189)gAc>gGc		transcription factor EC							92	88	90					7																	115614303		2203	4298	6501	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614303T>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.188A>G	7.37:g.115614303T>C	ENSP00000265440:p.Asp63Gly					TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.D153G	p.D63G	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	368	-			63			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.188A>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784714	0.49997	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.27890	1.64;1.98	4.58	4.58	0.56647	.	0.287515	0.36740	N	0.002438	T	0.30230	0.0758	L	0.58354	1.805	0.80722	D	1	P;B	0.34662	0.462;0.084	B;B	0.31614	0.133;0.034	T	0.19647	-1.0299	10	0.87932	D	0	-4.0654	12.5214	0.56060	0.0:0.0:0.0:1.0	.	153;63	B7Z757;O14948	.;TFEC_HUMAN	G	63;153	ENSP00000265440:D63G;ENSP00000417432:D153G	ENSP00000265440:D63G	D	-	2	0	TFEC	115401539	0.938000	0.31826	0.999000	0.59377	0.999000	0.98932	4.776000	0.62354	1.705000	0.51264	0.528000	0.53228	GAC		0.343	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		6	298	0	0	0	1	0	6	298					C	115614303	T	C	115614303	3	2	79	1	0	0	0	0	1	0	0	0	15854	1667	58	4	879	4	TFEC	7	115614303	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32285	115614303	43524360	8779	19096											
MET	4233	broad.mit.edu	37	chr7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaagataacatcaacAtggctctagttgtcgacacc	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000318493.6	+	2	539	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000397752.3_Missense_Mutation_p.M118L|MET_ENST00000436117.2_Missense_Mutation_p.M118L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(352-354)Atg>Ctg		met proto-oncogene							125	119	121					7																	116339490		2017	4188	6205	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339490A>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.352A>C	7.37:g.116339490A>C	ENSP00000317272:p.Met118Leu					MET_ENST00000436117.2_Missense_Mutation_p.M118L|MET_ENST00000318493.6_Missense_Mutation_p.M118L	p.M118L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	552	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	118			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.352A>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696168	0.30052	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.6	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222698	0.52532	N	0.000069	T	0.08670	0.0215	M	0.70275	2.135	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.004;0.012;0.012;0.012;0.012;0.012;0.02;0.012;0.014;0.004;0.012;0.006;0.006	T	0.04053	-1.0981	10	0.42905	T	0.14	.	12.7796	0.57469	0.8516:0.1484:0.0:0.0	.	118;118;118;118;118;118;118;118;118;118;118;118;118	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	137;137;118;118;118	ENSP00000413857:M137L;ENSP00000380860:M118L;ENSP00000317272:M118L;ENSP00000410980:M118L	ENSP00000317272:M118L	M	+	1	0	MET	116126726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	1.059000	0.40554	0.533000	0.62120	ATG		0.488	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			22	533	0	0	0	1	0	22	533					C	116339490	A	C	116339490	3	2	79	1	0	0	0	0	1	0	0	0	9526	217	8	4	354	4	MET	7	116339490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725187	116339490	42799173	8780	19097											
MET	4233	broad.mit.edu	37	chr7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattcctacatggaaatgcCtctggagtgtattctcacag	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000318493.6	+	2	1071	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000397752.3_Missense_Mutation_p.P295H|MET_ENST00000436117.2_Missense_Mutation_p.P295H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(883-885)cCt>cAt		met proto-oncogene							84	79	81					7																	116340022		1844	4092	5936	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340022C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.884C>A	7.37:g.116340022C>A	ENSP00000317272:p.Pro295His					MET_ENST00000436117.2_Missense_Mutation_p.P295H|MET_ENST00000318493.6_Missense_Mutation_p.P295H	p.P295H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1084	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	295			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.884C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10860	2.83;2.83;2.83	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100208	0.64402	D	0.000001	T	0.42494	0.1205	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.954;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.55029	-0.8204	10	0.72032	D	0.01	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	295;295;295;295;295;295;295;295;295;295;295;295;295	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	H	295	ENSP00000380860:P295H;ENSP00000317272:P295H;ENSP00000410980:P295H	ENSP00000317272:P295H	P	+	2	0	MET	116127258	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.637000	0.67854	1.606000	0.50161	-0.182000	0.12963	CCT		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			96	435	1	0	1.07466e-44	1	1.31567e-44	96	435					A	116340022	C	A	116340022	3	1	79	1	0	0	0	0	1	0	0	0	9526	681	24	3	886	3	MET	7	116340022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	116340022	42798641	8781	19098											
MET	4233	broad.mit.edu	37	chr7	116381004	116381004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagtgtggctggtgccaCgacaaatgtgtgcgatcgga	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000318493.6	+	5	1813	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Silent_p.H542H|MET_ENST00000436117.2_Silent_p.H542H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1624-1626)caC>caT		met proto-oncogene							104	109	107					7																	116381004		1965	4142	6107	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116381004C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1626C>T	7.37:g.116381004C>T						MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Silent_p.H542H	p.H542H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		5	1826	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	542					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1626C>T	CCDS47689.1																																																																																				0.522	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			114	473	0	0	0	1	0	114	473					T	116381004	C	T	116381004	2	4	79	1	0	0	0	0	0	0	0	1	9526	535	19	1		1	MET	7	116381004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40982	116381004	42757659	8782	19099											
MET	4233	broad.mit.edu	37	chr7	116403139	116403139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcagagataatctgTtgtaccactccttccctgca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000318493.6	+	11	2641	c.2454T>C	c.(2452-2454)tgT>tgC	p.C818C	MET_ENST00000397752.3_Silent_p.C800C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2398-2400)tgT>tgC		met proto-oncogene							101	95	97					7																	116403139		1934	4123	6057	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116403139T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2454T>C	7.37:g.116403139T>C						MET_ENST00000318493.6_Silent_p.C818C	p.C800C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		11	2600	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	800			IPT/TIG 3.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.2400T>C	CCDS47689.1																																																																																				0.408	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			87	360	0	0	0	1	0	87	360					C	116403139	T	C	116403139	2	2	79	1	0	0	0	0	0	0	0	1	9526	1731	60	4		4	MET	7	116403139	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22135	116403139	42735524	8783	19100											
MET	4233	broad.mit.edu	37	chr7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttctctctgttttaagatCtgggcagtgaattagttcgc	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000318493.6	+	14	3131	c.2944C>A	c.(2944-2946)Ctg>Atg	p.L982M	MET_ENST00000397752.3_Missense_Mutation_p.L964M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		5	Deletion - In frame(4)|Unknown(1)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)	lung(5)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2890-2892)Ctg>Atg		met proto-oncogene							62	58	59					7																	116411905		1869	4103	5972	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116411905C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2944C>A	7.37:g.116411905C>A	ENSP00000317272:p.Leu982Met					MET_ENST00000318493.6_Missense_Mutation_p.L982M	p.L964M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3090	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	964					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2890C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672763	0.67928	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.76968	-1.06;-0.91	5.76	5.76	0.90799	.	0.066380	0.64402	D	0.000007	D	0.87297	0.6142	M	0.78916	2.43	0.80722	D	1	D;D	0.63880	0.993;0.959	D;P	0.70227	0.968;0.65	D	0.87240	0.2266	10	0.54805	T	0.06	.	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	982;964	P08581-2;P08581	.;MET_HUMAN	M	964;982	ENSP00000380860:L964M;ENSP00000317272:L982M	ENSP00000317272:L982M	L	+	1	2	MET	116199141	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.423000	0.44705	2.882000	0.98803	0.655000	0.94253	CTG		0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			34	177	1	0	2.32173e-10	1	2.46079e-10	34	177					A	116411905	C	A	116411905	3	1	79	1	0	0	0	0	1	0	0	0	9526	912	32	3	2994	3	MET	7	116411905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8766	116411905	42726758	8784	19101											
MET	4233	broad.mit.edu	37	chr7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacctcagtgctctaaatCcagagctggtccaggcagtg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000318493.6	+	15	3419	c.3232C>T	c.(3232-3234)Cca>Tca	p.P1078S	MET_ENST00000539704.1_5'Flank|MET_ENST00000397752.3_Missense_Mutation_p.P1060S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3178-3180)Cca>Tca		met proto-oncogene							188	186	186					7																	116415084		2117	4249	6366	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116415084C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3232C>T	7.37:g.116415084C>T	ENSP00000317272:p.Pro1078Ser					MET_ENST00000318493.6_Missense_Mutation_p.P1078S	p.P1060S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		15	3378	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1060					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3178C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684620	0.68157	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73789	-0.76;-0.78	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.048031	0.85682	D	0.000000	T	0.80969	0.4726	L	0.43152	1.355	0.80722	D	1	P;D	0.76494	0.453;0.999	B;D	0.74348	0.185;0.983	T	0.79438	-0.1803	10	0.42905	T	0.14	.	14.8095	0.69982	0.1441:0.8559:0.0:0.0	.	1078;1060	P08581-2;P08581	.;MET_HUMAN	S	1060;1078;145	ENSP00000380860:P1060S;ENSP00000317272:P1078S	ENSP00000317272:P1078S	P	+	1	0	MET	116202320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.267000	0.65530	2.795000	0.96236	0.655000	0.94253	CCA		0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			101	497	0	0	0	1	0	101	497					T	116415084	C	T	116415084	3	4	79	1	0	0	0	0	1	0	0	0	9526	855	30	2	3286	2	MET	7	116415084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3179	116415084	42723579	8785	19102											
WNT2	7472	broad.mit.edu	37	chr7	116937895	116937895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagccgctcaccccgtgGcacttgcactcttgtttcaa	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	208					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(622-624)tgC>tgT		wingless-type MMTV integration site family member 2							100	95	97					7																	116937895		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937895G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.624C>T	7.37:g.116937895G>A							p.C208C	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	923	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		208					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.624C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921671	0.33908	.	.	ENSG00000105989	ENST00000491214	T	0.61980	0.06	5.58	-1.85	0.07784	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	6	0.02654	T	1	.	12.2951	0.54842	0.4204:0.0:0.5796:0.0	.	.	.	.	S	116	ENSP00000419466:P116S	ENSP00000419466:P116S	P	-	1	0	WNT2	116725131	1.000000	0.71417	0.982000	0.44146	0.506000	0.33950	0.699000	0.25586	-0.144000	0.11314	-0.367000	0.07326	CCA		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		117	567	0	0	0	1	0	117	567					A	116937895	G	A	116937895	2	1	79	1	0	0	0	0	0	0	0	1	17440	1195	42	2		2	WNT2	7	116937895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522811	116937895	42200768	8786	19103											
WNT2	7472	broad.mit.edu	37	chr7	116937921	116937921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcttgtttcaagaaccGctttacagcctgccgaaaaa	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937921G>A	ENST00000265441.3	-	4	897	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	200					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCAAGAACCGCTTTACAGCC	0.537																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(598-600)Cgg>Tgg		wingless-type MMTV integration site family member 2							78	75	76					7																	116937921		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937921G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.598C>T	7.37:g.116937921G>A	ENSP00000265441:p.Arg200Trp						p.R200W	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	897	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		200					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.598C>T	CCDS5771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.913108|2.913108	0.52439|0.52439	.|.	.|.	ENSG00000105989|ENSG00000105989	ENST00000491214|ENST00000265441	T|T	0.64085|0.76839	-0.08|-1.05	5.58|5.58	3.75|3.75	0.43078|0.43078	.|.	.|0.107593	.|0.64402	.|D	.|0.000004	D|D	0.89241|0.89241	0.6659|0.6659	M|M	0.89904|0.89904	3.07|3.07	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76071	.|0.987;0.987	D|D	0.90610|0.90610	0.4551|0.4551	7|10	0.87932|0.87932	D|D	0|0	.|.	13.2558|13.2558	0.60079|0.60079	0.0:0.0:0.5829:0.4171|0.0:0.0:0.5829:0.4171	.|.	.|200;200	.|A4D0V1;P09544	.|.;WNT2_HUMAN	V|W	107|200	ENSP00000419466:A107V|ENSP00000265441:R200W	ENSP00000419466:A107V|ENSP00000265441:R200W	A|R	-|-	2|1	0|2	WNT2|WNT2	116725157|116725157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.701000|4.701000	0.61810|0.61810	0.806000|0.806000	0.34183|0.34183	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.537	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		12	517	0	0	0	1	0	12	517					A	116937921	G	A	116937921	3	1	79	1	0	0	0	0	1	0	0	0	17440	1086	38	1	492	1	WNT2	7	116937921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	116937921	42200742	8787	19104											
WNT2	7472	broad.mit.edu	37	chr7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcggtgacacagctgcCgctggctgctcaccaggcct	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(154-156)cGg>cAg		wingless-type MMTV integration site family member 2							54	45	48					7																	116960776		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960776C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	7.37:g.116960776C>T	ENSP00000265441:p.Arg52Gln					AC002465.2_ENST00000436097.1_RNA	p.R52Q	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	454	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		52					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.155G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		26	114	0	0	0	1	0	26	114					T	116960776	C	T	116960776	3	4	79	1	0	0	0	0	1	0	0	0	17440	652	23	1	943	1	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22855	116960776	42177887	8788	19105											
CFTR	1080	broad.mit.edu	37	chr7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctagatctgttctcaGtaaggcgaagatcttgctgc	11	9	3	2	rs397508669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1362	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCTGTTCTCAGTAAGGCGAAG	0.473									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(4084-4086)aGt>aAt		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						239	201	214					7																	117304863		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117304863G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4085G>A	7.37:g.117304863G>A	ENSP00000003084:p.Ser1362Asn					CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	p.S1362N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		25	4217	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1362			ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4085G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064717	0.93898	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93547	-3.24;-3.24;-3.24	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.034897	0.85682	D	0.000000	D	0.93582	0.7951	L	0.31926	0.97	0.80722	D	1	P	0.34743	0.466	P	0.48166	0.569	D	0.91839	0.5482	10	0.46703	T	0.11	-7.325	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1362	P13569	CFTR_HUMAN	N	1362;1301;1332	ENSP00000003084:S1362N;ENSP00000403677:S1301N;ENSP00000389119:S1332N	ENSP00000003084:S1362N	S	+	2	0	CFTR	117092099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.448000	0.80631	2.941000	0.99782	0.655000	0.94253	AGT		0.473	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		33	506	0	0	0	1	0	33	506					A	117304863	G	A	117304863	3	1	79	1	0	0	0	0	1	0	0	0	3303	1029	36	2	4183	2	CFTR	7	117304863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344087	117304863	41833800	8789	19106											
CTTNBP2	83992	broad.mit.edu	37	chr7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgttttgacagagaaGcattcctgttacaattcagc	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1498					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACAGAGAAGCATTCCTGTT	0.303																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4492-4494)gCt>gTt		cortactin binding protein 2							165	163	164					7																	117361139		2202	4299	6501	SO:0001583	missense	83992							g.chr7:117361139G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4493C>T	7.37:g.117361139G>A	ENSP00000160373:p.Ala1498Val						p.A1498V	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	20	4584	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1498					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4493C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963163	0.34659	.	.	ENSG00000077063	ENST00000160373	T	0.66460	-0.21	5.21	4.33	0.51752	.	0.621908	0.16066	N	0.231236	T	0.62660	0.2446	M	0.64404	1.975	0.22500	N	0.999042	B	0.23937	0.094	B	0.16289	0.015	T	0.54990	-0.8210	10	0.41790	T	0.15	-0.4606	12.1834	0.54223	0.0795:0.0:0.9205:0.0	.	1498	Q8WZ74	CTTB2_HUMAN	V	1498	ENSP00000160373:A1498V	ENSP00000160373:A1498V	A	-	2	0	CTTNBP2	117148375	0.898000	0.30612	0.632000	0.29296	0.706000	0.40770	2.807000	0.47955	1.306000	0.44926	0.644000	0.83932	GCT		0.303	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		60	361	0	0	0	1	0	60	361					A	117361139	G	A	117361139	3	1	79	1	0	0	0	0	1	0	0	0	4056	971	34	2	514	2	CTTNBP2	7	117361139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56276	117361139	41777524	8790	19107											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactacaggacaagacaggaAatattttggtccaagaagtg	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1337					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGACAGGAAATATTTTGGT	0.498																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4009-4011)Ttc>Ctc		cortactin binding protein 2							92	98	96					7																	117368189		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368189A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4009T>C	7.37:g.117368189A>G	ENSP00000160373:p.Phe1337Leu						p.F1337L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	17	4100	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1337					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4009T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.142339|5.142339	0.94560|0.94560	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.90444|.	-2.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.044917|0.044917	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.88105|0.88105	2.93|2.93	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	D|D	0.84109|0.84109	0.0400|0.0400	10|6	0.87932|.	D|.	0|.	4.1753|4.1753	15.7672|15.7672	0.78135|0.78135	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337|.	Q8WZ74|.	CTTB2_HUMAN|.	L|S	1337|824	ENSP00000160373:F1337L|.	ENSP00000160373:F1337L|.	F|F	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117155425|117155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.395000|8.395000	0.90188|0.90188	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		56	584	0	0	0	1	0	56	584					G	117368189	A	G	117368189	3	3	79	1	0	0	0	0	1	0	0	0	4056	14	1	4	1010	4	CTTNBP2	7	117368189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7050	117368189	41770474	8791	19108											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggtgttattgcaagTcacgtcttccagactccacc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTATTGCAAGTCACGTCTTCC	0.453																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3106-3108)Act>Cct		cortactin binding protein 2							170	150	157					7																	117400555		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400555T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3106A>C	7.37:g.117400555T>G	ENSP00000160373:p.Thr1036Pro						p.T1036P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3197	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1036					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3106A>C	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	10.42|10.42|10.42	1.344691|1.344691|1.344691	0.24426|0.24426|0.24426	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.67171|.	.|-0.25|.	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	.|.|.	.|0.408889|.	.|0.27151|.	.|N|.	.|0.020687|.	T|T|.	0.46171|0.46171|.	0.1379|0.1379|.	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999991|0.999991|0.999991	.|P|.	.|0.47962|.	.|0.903|.	.|B|.	.|0.39876|.	.|0.312|.	T|T|.	0.44620|0.44620|.	-0.9316|-0.9316|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-1.2873|-1.2873|-1.2873	2.3636|2.3636|2.3636	0.04313|0.04313|0.04313	0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057	.|.|.	.|1036|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	A|P|C	523|1036|49;31	.|ENSP00000160373:T1036P|.	.|ENSP00000160373:T1036P|.	D|T|X	-|-|-	2|1|3	0|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187791|117187791|117187791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.014000|0.014000|0.014000	0.15608|0.15608|0.15608	0.026000|0.026000|0.026000	0.11368|0.11368|0.11368	0.797000|0.797000|0.797000	0.26999|0.26999|0.26999	0.138000|0.138000|0.138000	0.18790|0.18790|0.18790	-0.417000|-0.417000|-0.417000	0.06048|0.06048|0.06048	GAC|ACT|TGA		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		104	525	0	0	0	1	0	104	525					G	117400555	T	G	117400555	3	3	79	1	0	0	0	0	1	0	0	0	4056	1667	58	4	1941	4	CTTNBP2	7	117400555	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32366	117400555	41738108	8792	19109											
CTTNBP2	83992	broad.mit.edu	37	chr7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtattctatggtacataaGaagcttgaggctgtccacat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	862					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGTACATAAGAAGCTTGAGG	0.468																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2584-2586)Ctt>Ttt		cortactin binding protein 2							71	72	72					7																	117417759		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117417759G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2584C>T	7.37:g.117417759G>A	ENSP00000160373:p.Leu862Phe						p.L862F	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	8	2675	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		862					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2584C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027791|4.027791	0.75390|0.75390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.78126|.	-1.15|.	5.46|5.46	4.57|4.57	0.56435|0.56435	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.71296|0.71296	2.17|2.17	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73219|0.73219	-0.4052|-0.4052	10|5	0.87932|.	D|.	0|.	-22.5799|-22.5799	14.9195|14.9195	0.70826|0.70826	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	862|.	Q8WZ74|.	CTTB2_HUMAN|.	F|F	862|349	ENSP00000160373:L862F|.	ENSP00000160373:L862F|.	L|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117204995|117204995	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.803000|0.803000	0.45373|0.45373	6.945000|6.945000	0.75947|0.75947	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		45	239	0	0	0	1	0	45	239					A	117417759	G	A	117417759	3	1	79	1	0	0	0	0	1	0	0	0	4056	942	33	2	2471	2	CTTNBP2	7	117417759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17204	117417759	41720904	8793	19110											
CTTNBP2	83992	broad.mit.edu	37	chr7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attggttccagcttccaacaAgagtttaatacattctttat	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	829					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCTTCCAACAAGAGTTTAATA	0.343																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2485-2487)Ttg>Atg		cortactin binding protein 2							147	148	148					7																	117420533		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117420533A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2485T>A	7.37:g.117420533A>T	ENSP00000160373:p.Leu829Met						p.L829M	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	7	2576	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		829					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2485T>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.834947|2.834947	0.50951|0.50951	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	T|D	0.69806|0.90004	-0.43|-2.6	5.78|5.78	-2.05|-2.05	0.07321|0.07321	.|Ankyrin repeat-containing domain (3);	0.063133|0.063133	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.93462|0.93462	0.7914|0.7914	M|M	0.84948|0.84948	2.725|2.725	0.37406|0.37406	D|D	0.913042|0.913042	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93340|0.93340	0.6709|0.6709	8|10	0.66056|0.87932	D|D	0.02|0	-7.1708|-7.1708	12.828|12.828	0.57731|0.57731	0.5502:0.0:0.4498:0.0|0.5502:0.0:0.4498:0.0	.|.	.|829	.|Q8WZ74	.|CTTB2_HUMAN	H|M	316|829	ENSP00000389576:L316H|ENSP00000160373:L829M	ENSP00000389576:L316H|ENSP00000160373:L829M	L|L	-|-	2|1	0|2	CTTNBP2|CTTNBP2	117207769|117207769	0.973000|0.973000	0.33851|0.33851	0.561000|0.561000	0.28357|0.28357	0.450000|0.450000	0.32258|0.32258	0.600000|0.600000	0.24104|0.24104	-0.263000|-0.263000	0.09378|0.09378	-0.290000|-0.290000	0.09829|0.09829	CTT|TTG		0.343	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		103	542	0	0	0	1	0	103	542					T	117420533	A	T	117420533	3	4	79	1	0	0	0	0	1	0	0	0	4056	69	3	5	2574	5	CTTNBP2	7	117420533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2774	117420533	41718130	8794	19111											
NAA38	84316	broad.mit.edu	37	chr7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtagaacaagtggtactaGgattatacattgtaagaggt	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000249299.2	+	3	364	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000424702.1_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	100					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368																																						ENST00000424702.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(172-174)Gga>Tga		N(alpha)-acetyltransferase 38, NatC auxiliary subunit							85	85	85					7																	117828431		2203	4300	6503	SO:0001587	stop_gained	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117828431G>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"N(alpha)-acetyltransferase subunits"	28212	protein-coding gene	gene with protein product			"LSM domain containing 1"	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.172G>T	7.37:g.117828431G>T	ENSP00000249299:p.Gly58*					NAA38_ENST00000249299.2_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*	p.G58*			O95777	NAA38_HUMAN			3	252	+			58					Q8N4M0	Nonsense_Mutation	SNP	ENST00000249299.2	37	c.172G>T	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274682	0.80580	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.22	14.8076	0.69968	0.0688:0.0:0.9312:0.0	.	.	.	.	X	58;58;37;69	.	ENSP00000249299:G58X	G	+	1	0	NAA38	117615667	1.000000	0.71417	0.167000	0.22817	0.953000	0.61014	9.234000	0.95347	1.480000	0.48289	0.650000	0.86243	GGA		0.368	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		50	232	1	0	3.86236e-30	1	4.52529e-30	50	232					T	117828431	G	T	117828431	4	4	79	1	0	0	0	0	0	1	0	0	10165	1001	35	3	182	3	NAA38	7	117828431	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407898	117828431	41310232	8795	19112											
KCND2	3751	broad.mit.edu	37	chr7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgccgtctctgtcatcGcgaatgtggtggaaacagtg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	201					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCTGTCATCGCGAATGTGGT	0.562																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(601-603)Gcg>Acg		potassium voltage-gated channel, Shal-related subfamily, member 2							103	97	99					7																	119915287		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915287G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.601G>A	7.37:g.119915287G>A	ENSP00000333496:p.Ala201Thr						p.A201T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1566	+	all_neural(327;0.117)		201					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.601G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178077	0.38511	.	.	ENSG00000184408	ENST00000331113	D	0.97378	-4.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	N	0.21282	0.65	0.58432	D	0.999998	B	0.27732	0.187	B	0.20384	0.029	D	0.90746	0.4653	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	201	Q9NZV8	KCND2_HUMAN	T	201	ENSP00000333496:A201T	.	A	+	1	0	KCND2	119702523	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	3.701000	0.54793	2.641000	0.89580	0.563000	0.77884	GCG		0.562	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		59	266	0	0	0	1	0	59	266					A	119915287	G	A	119915287	3	1	79	1	0	0	0	0	1	0	0	0	8049	1087	38	1	603	1	KCND2	7	119915287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2086856	119915287	39223376	8796	19113											
KCND2	3751	broad.mit.edu	37	chr7	119915676	119915676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcttcttgcttttctcGctcaccatggctatcatcat	7	12	5	0	rs367633670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGCTTTTCTCGCTCACCATGG	0.502																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(988-990)tcG>tcA		potassium voltage-gated channel, Shal-related subfamily, member 2							158	119	132					7																	119915676		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915676G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.990G>A	7.37:g.119915676G>A							p.S330S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1955	+	all_neural(327;0.117)		330					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.990G>A	CCDS5776.1																																																																																				0.502	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		98	421	0	0	0	1	0	98	421					A	119915676	G	A	119915676	2	1	79	1	0	0	0	0	0	0	0	1	8049	1074	38	1		1	KCND2	7	119915676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	119915676	39222987	8797	19114											
PTPRZ1	5803	broad.mit.edu	37	chr7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagagaaaacttgttgaAgagattggctggtcctatac	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000393386.2	+	2	513	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	34					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTTGTTGAAGAGATTGGCT	0.274																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(100-102)gaA>gaC		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							103	125	117					7																	121568253		2202	4296	6498	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121568253A>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.102A>C	7.37:g.121568253A>C	ENSP00000377047:p.Glu34Asp					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			2	513	+			34					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.102A>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950785	0.53186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48836	0.82;0.8	5.84	3.49	0.39957	.	0.000000	0.64402	D	0.000007	T	0.51839	0.1698	L	0.29908	0.895	0.25239	N	0.989767	D;D	0.76494	0.994;0.999	D;D	0.78314	0.97;0.991	T	0.39078	-0.9631	10	0.49607	T	0.09	.	8.349	0.32290	0.8468:0.0:0.1532:0.0	.	34;34	C9JFM0;P23471	.;PTPRZ_HUMAN	D	34	ENSP00000377047:E34D;ENSP00000410000:E34D	ENSP00000377047:E34D	E	+	3	2	PTPRZ1	121355489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	0.480000	0.27534	-0.250000	0.11733	GAA		0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		129	670	0	0	0	1	0	129	670					C	121568253	A	C	121568253	3	2	79	1	0	0	0	0	1	0	0	0	12864	69	3	4	108	4	PTPRZ1	7	121568253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1652577	121568253	37570410	8798	19115											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652806	121652806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaagtgaaaacatgCtgcactctacatctgtacca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000393386.2	+	12	4117	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1236					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAACATGCTGCACTCTAC	0.388																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3706-3708)Ctg>Ttg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							159	159	159					7																	121652806		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652806C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3706C>T	7.37:g.121652806C>T						PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.L1236L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	4117	+			1236					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3706C>T	CCDS34740.1																																																																																				0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		164	721	0	0	0	1	0	164	721					T	121652806	C	T	121652806	2	4	79	1	0	0	0	0	0	0	0	1	12864	796	28	2		2	PTPRZ1	7	121652806	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84553	121652806	37485857	8799	19116											
PTPRZ1	5803	broad.mit.edu	37	chr7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtctagctgaggggTtggaatccgagaagaaggca	16	5	1	3	rs201869096		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000393386.2	+	13	5302	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1631					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCTGAGGGGTTGGAATCCGA	0.438																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4891-4893)Ttg>Gtg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							207	184	192					7																	121659225		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121659225T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4891T>G	7.37:g.121659225T>G	ENSP00000377047:p.Leu1631Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	p.L1631V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			13	5302	+			1631					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4891T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450921	0.26074	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75589	0.81;-0.95	5.37	-5.41	0.02648	.	0.000000	0.53938	D	0.000053	T	0.67850	0.2937	M	0.66939	2.045	0.23198	N	0.998139	B;B;P	0.40360	0.1;0.067;0.714	B;B;B	0.37198	0.084;0.018;0.243	T	0.62353	-0.6872	10	0.54805	T	0.06	.	16.7431	0.85465	0.0:0.5728:0.0:0.4272	.	770;771;1631	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1631;771	ENSP00000377047:L1631V;ENSP00000410000:L771V	ENSP00000377047:L1631V	L	+	1	2	PTPRZ1	121446461	0.681000	0.27614	0.383000	0.26132	0.982000	0.71751	-0.257000	0.08745	-1.949000	0.01031	-1.463000	0.01021	TTG		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		57	295	0	0	0	1	0	57	295					G	121659225	T	G	121659225	3	3	79	1	0	0	0	0	1	0	0	0	12864	1722	60	4	4941	4	PTPRZ1	7	121659225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6419	121659225	37479438	8800	19117											
AASS	10157	broad.mit.edu	37	chr7	121726195	121726195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatccatggacgtaacGgcatcaagaaaggagatgcc	10	8	1	2	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.A685A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	685	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGACGTAACGGCATCAAGAA	0.423																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(2053-2055)gcC>gcT		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	G		4,4402	8.1+/-20.4	0,4,2199	72	69	70		2055	-12.2	0	7	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AASS	NM_005763.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		685/927	121726195	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726195G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2055C>T	7.37:g.121726195G>A						AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.A685A	p.A685A			Q9UDR5	AASS_HUMAN			18	2150	-			685			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.2055C>T	CCDS5783.1																																																																																				0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		34	137	0	0	0	1	0	34	137					A	121726195	G	A	121726195	2	1	79	1	0	0	0	0	0	0	0	1	24	1103	39	1		1	AASS	7	121726195	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66970	121726195	37412468	8801	19118											
AASS	10157	broad.mit.edu	37	chr7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattaatattatatttcttgCctaactgttcaatttgattc	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G521V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	521	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATATTTCTTGCCTAACTGTTC	0.323																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1561-1563)gGc>gTc		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						102	98	100					7																	121738597		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738597C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1562G>T	7.37:g.121738597C>A	ENSP00000377040:p.Gly521Val					AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G521V	p.G521V			Q9UDR5	AASS_HUMAN			14	1657	-			521			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1562G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804224	0.31869	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.97	4.13	0.48395	NAD(P)-binding domain (1);	0.791425	0.12271	N	0.483813	T	0.12561	0.0305	N	0.01091	-1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.12156	0.007	T	0.07558	-1.0766	10	0.59425	D	0.04	0.2893	4.3102	0.10967	0.1252:0.5612:0.2255:0.0881	.	521	Q9UDR5	AASS_HUMAN	V	521	ENSP00000377040:G521V;ENSP00000403768:G521V	ENSP00000351834:G521V	G	-	2	0	AASS	121525833	0.080000	0.21391	0.129000	0.21949	0.926000	0.56050	2.831000	0.48144	1.533000	0.49186	0.585000	0.79938	GGC		0.323	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		36	135	1	0	6.50621e-10	1	6.87419e-10	36	135					A	121738597	C	A	121738597	3	1	79	1	0	0	0	0	1	0	0	0	24	739	26	3	1258	3	AASS	7	121738597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12402	121738597	37400066	8802	19119											
AASS	10157	broad.mit.edu	37	chr7	121753177	121753177	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taccagtctgcttaccatttCttcaacataagggtaaagca	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121753177C>A	ENST00000393376.1	-	10	1368	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	425	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTACCATTTCTTCAACATAA	0.398																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1273-1275)Gaa>Taa		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						98	84	89					7																	121753177		2203	4300	6503	SO:0001587	stop_gained	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753177C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1273G>T	7.37:g.121753177C>A	ENSP00000377040:p.Glu425*					AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*	p.E425*			Q9UDR5	AASS_HUMAN			10	1368	-			425			Lysine-ketoglutarate reductase.		O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	c.1273G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	38	7.109776	0.98070	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.38	5.38	0.77491	.	0.046196	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-23.8767	19.4992	0.95086	0.0:1.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000351834:E425X	E	-	1	0	AASS	121540413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.689000	0.91719	0.655000	0.94253	GAA		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		7	171	1	0	0.248553	1	0.24873	7	171					A	121753177	C	A	121753177	4	1	79	1	0	0	0	0	0	1	0	0	24	922	32	3	1563	3	AASS	7	121753177	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14580	121753177	37385486	8803	19120											
AASS	10157	broad.mit.edu	37	chr7	121769556	121769556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagacaagcttcagaaatAtcctcctgaagaatgccacc	6	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.D82D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	82	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTCAGAAATATCCTCCTGAA	0.343																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(244-246)gaT>gaC		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						62	66	65					7																	121769556		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121769556A>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.246T>C	7.37:g.121769556A>G						AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.D82D	p.D82D			Q9UDR5	AASS_HUMAN			2	341	-			82			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.246T>C	CCDS5783.1																																																																																				0.343	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		47	238	0	0	0	1	0	47	238					G	121769556	A	G	121769556	2	3	79	1	0	0	0	0	0	0	0	1	24	446	16	4		4	AASS	7	121769556	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16379	121769556	37369107	8804	19121											
FEZF1	389549	broad.mit.edu	37	chr7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccgtcactcctgccTtggggctcgtgtcgtaggcc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	87					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(259-261)aAg>aGg		FEZ family zinc finger 1							35	32	33					7																	121944232		2202	4299	6501	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944232T>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.260A>G	7.37:g.121944232T>C	ENSP00000411145:p.Lys87Arg					FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R	p.K87R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	327	-			87					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.260A>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492179	0.44352	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.11277	2.88;3.0;2.79	4.65	4.65	0.58169	.	0.052252	0.85682	D	0.000000	T	0.11580	0.0282	L	0.47016	1.485	0.36552	D	0.871937	B;B	0.30146	0.176;0.27	B;B	0.25291	0.026;0.059	T	0.10019	-1.0648	10	0.72032	D	0.01	-15.3977	13.6885	0.62531	0.0:0.0:0.0:1.0	.	87;87	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	87	ENSP00000411145:K87R;ENSP00000332777:K87R;ENSP00000392727:K87R	ENSP00000332777:K87R	K	-	2	0	FEZF1	121731468	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.049000	0.64244	2.069000	0.61940	0.454000	0.30748	AAG		0.687	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		35	183	0	0	0	1	0	35	183					C	121944232	T	C	121944232	3	2	79	1	0	0	0	0	1	0	0	0	5850	1609	56	4	1183	4	FEZF1	7	121944232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174676	121944232	37194431	8805	19122											
FEZF1	389549	broad.mit.edu	37	chr7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggatcatgcaggggaTcgacgagttgagatgcagag	18	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	71					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(211-213)Atc>Gtc		FEZ family zinc finger 1							94	83	87					7																	121944281		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944281T>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.211A>G	7.37:g.121944281T>C	ENSP00000411145:p.Ile71Val					FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V	p.I71V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	278	-			71					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.211A>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569433	0.28003	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.16;3.28;3.1	4.65	3.47	0.39725	.	0.116516	0.64402	D	0.000017	T	0.08223	0.0205	L	0.36672	1.1	0.31931	N	0.612159	B;B	0.29432	0.158;0.244	B;B	0.31547	0.042;0.132	T	0.05582	-1.0876	10	0.45353	T	0.12	-18.4477	11.2114	0.48802	0.0:0.0:0.2913:0.7087	.	71;71	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	71	ENSP00000411145:I71V;ENSP00000332777:I71V;ENSP00000392727:I71V	ENSP00000332777:I71V	I	-	1	0	FEZF1	121731517	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	1.097000	0.30988	0.883000	0.36040	-0.478000	0.04885	ATC		0.677	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		62	357	0	0	0	1	0	62	357					C	121944281	T	C	121944281	3	2	79	1	0	0	0	0	1	0	0	0	5850	1435	50	4	1232	4	FEZF1	7	121944281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	121944281	37194382	8806	19123											
CADPS2	93664	broad.mit.edu	37	chr7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccactgaaacagtcccaAttccatcaggcctgaaaaaa	5	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000449022.2	-	15	2217	c.2198T>C	c.(2197-2199)aTt>aCt	p.I733T	CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	733					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2200-2202)aTt>aCt		Ca++-dependent secretion activator 2							33	32	33					7																	122091518		1786	4042	5828	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122091518A>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2198T>C	7.37:g.122091518A>G	ENSP00000398481:p.Ile733Thr					CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T|CADPS2_ENST00000449022.2_Missense_Mutation_p.I733T	p.I734T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			14	2622	-			733					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2201T>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017449	0.54576	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	5.41	0.78517	.	0.057162	0.64402	D	0.000002	T	0.46229	0.1382	M	0.62723	1.935	0.51767	D	0.99993	P;P;P;P	0.44521	0.704;0.837;0.704;0.557	B;P;B;B	0.47044	0.139;0.535;0.139;0.107	T	0.50406	-0.8832	10	0.87932	D	0	-17.753	15.5048	0.75728	1.0:0.0:0.0:0.0	.	733;730;733;730	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.;.;CAPS2_HUMAN;.	T	730;734;734;697;730;733	ENSP00000325581:I730T;ENSP00000333940:I734T;ENSP00000400401:I730T;ENSP00000398481:I733T	ENSP00000325581:I730T	I	-	2	0	CADPS2	121878754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.464000	0.73534	2.063000	0.61619	0.477000	0.44152	ATT		0.284	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		22	114	0	0	0	1	0	22	114					G	122091518	A	G	122091518	3	3	79	1	0	0	0	0	1	0	0	0	2578	101	4	4	1800	4	CADPS2	7	122091518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	147237	122091518	37047145	8807	19124											
RNF148	378925	broad.mit.edu	37	chr7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaatggcttttccgtTtgagtcaggaaagctaagta	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000434824.1	-	1	313	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423																																						ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(97-99)Aac>Cac		ring finger protein 148							67	58	61					7																	122342708		1868	4104	5972	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342708T>G	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.97A>C	7.37:g.122342708T>G	ENSP00000388207:p.Asn33His					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	p.N33H	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	313	-			33					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.97A>C	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484386	0.12641	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.03	0.46877	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;P	0.35600	0.412;0.511	B;B	0.31751	0.128;0.135	T	0.53330	-0.8454	9	0.45353	T	0.12	.	2.4256	0.04459	0.1502:0.0928:0.1556:0.6014	.	33;33	C9JVJ0;Q8N7C7	.;RN148_HUMAN	H	33	ENSP00000388207:N33H	ENSP00000388207:N33H	N	-	1	0	RNF148	122129944	0.037000	0.19845	0.976000	0.42696	0.468000	0.32798	1.444000	0.35068	2.044000	0.60594	0.454000	0.30748	AAC		0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		22	142	0	0	0	1	0	22	142					G	122342708	T	G	122342708	3	3	79	1	0	0	0	0	1	0	0	0	13499	1841	64	4	824	4	RNF148	7	122342708	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251190	122342708	36795955	8808	19125											
TAS2R16	50833	broad.mit.edu	37	chr7	122635033	122635033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgaagcgcgctttcAtgcttggattgcagtgacca	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635033A>G	ENST00000249284.2	-	1	721	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	219					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGCGCTTTCATGCTTGGATT	0.443																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(655-657)aTg>aCg		taste receptor, type 2, member 16							156	129	138					7																	122635033		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635033A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.656T>C	7.37:g.122635033A>G	ENSP00000249284:p.Met219Thr						p.M219T	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	721	-			219					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.656T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.652907	0.00785	.	.	ENSG00000128519	ENST00000249284	T	0.00628	6.11	4.46	-1.31	0.09230	.	0.944392	0.08725	N	0.902914	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.18871	0.023	T	0.44877	-0.9299	10	0.02654	T	1	.	0.9905	0.01455	0.4151:0.1669:0.095:0.323	.	219	Q9NYV7	T2R16_HUMAN	T	219	ENSP00000249284:M219T	ENSP00000249284:M219T	M	-	2	0	TAS2R16	122422269	0.000000	0.05858	0.035000	0.18076	0.126000	0.20510	-0.296000	0.08287	-0.286000	0.09076	-0.316000	0.08728	ATG		0.443	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		10	475	0	0	0	1	0	10	475					G	122635033	A	G	122635033	3	3	79	1	0	0	0	0	1	0	0	0	15621	217	8	4	223	4	TAS2R16	7	122635033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	292325	122635033	36503630	8809	19126											
TAS2R16	50833	broad.mit.edu	37	chr7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaattcccaatagctgaaGggatgattgttacacaagta	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	143					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGCTGAAGGGATGATTGT	0.388																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(427-429)cCt>cAt		taste receptor, type 2, member 16							140	135	136					7																	122635261		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635261G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.428C>A	7.37:g.122635261G>T	ENSP00000249284:p.Pro143His						p.P143H	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	493	-			143					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.428C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486645	0.44249	.	.	ENSG00000128519	ENST00000249284	T	0.00784	5.7	4.56	0.235	0.15431	.	0.351880	0.24909	N	0.034633	T	0.02380	0.0073	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.40040	-0.9584	10	0.59425	D	0.04	.	4.2625	0.10747	0.246:0.0:0.5736:0.1804	.	143	Q9NYV7	T2R16_HUMAN	H	143	ENSP00000249284:P143H	ENSP00000249284:P143H	P	-	2	0	TAS2R16	122422497	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.035000	0.12205	-0.073000	0.12842	0.655000	0.94253	CCT		0.388	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		58	311	1	0	2.17126e-26	1	2.5019e-26	58	311					T	122635261	G	T	122635261	3	4	79	1	0	0	0	0	1	0	0	0	15621	1000	35	3	451	3	TAS2R16	7	122635261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228	122635261	36503402	8810	19127											
TAS2R16	50833	broad.mit.edu	37	chr7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagagaccttgatgcAgtagaacacggtaagcaagc	12	7	0	4	rs543103403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	104					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTTGATGCAGTAGAACACG	0.373																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(310-312)Tgc>Cgc		taste receptor, type 2, member 16							78	77	77					7																	122635379		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635379A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.310T>C	7.37:g.122635379A>G	ENSP00000249284:p.Cys104Arg						p.C104R	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	375	-			104					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.310T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049427	0.36181	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.33	4.33	0.51752	.	0.062957	0.64402	D	0.000007	T	0.62901	0.2466	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69213	-0.5204	10	0.87932	D	0	.	10.0659	0.42303	1.0:0.0:0.0:0.0	.	104	Q9NYV7	T2R16_HUMAN	R	104	ENSP00000249284:C104R	ENSP00000249284:C104R	C	-	1	0	TAS2R16	122422615	0.991000	0.36638	1.000000	0.80357	0.113000	0.19764	3.260000	0.51523	1.948000	0.56530	0.533000	0.62120	TGC		0.373	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		45	236	0	0	0	1	0	45	236					G	122635379	A	G	122635379	3	3	79	1	0	0	0	0	1	0	0	0	15621	188	7	4	569	4	TAS2R16	7	122635379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118	122635379	36503284	8811	19128											
SLC13A1	6561	broad.mit.edu	37	chr7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagaatggctatatcCcagggcatgaatgactggaa	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	433					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1297-1299)tgG>tgA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						138	137	137					7																	122763231		2203	4300	6503	SO:0001587	stop_gained	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122763231C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1299G>A	7.37:g.122763231C>T	ENSP00000194130:p.Trp433*					SLC13A1_ENST00000539873.1_3'UTR	p.W433*	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			12	1338	-			433					Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	37	c.1299G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582130	0.97680	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	.	0.118903	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	.	.	.	X	433	.	ENSP00000194130:W433X	W	-	3	0	SLC13A1	122550467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.728000	0.93425	0.591000	0.81541	TGG		0.378	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		63	297	0	0	0	1	0	63	297					T	122763231	C	T	122763231	4	4	79	1	0	0	0	0	0	1	0	0	14441	624	22	2	504	2	SLC13A1	7	122763231	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127852	122763231	36375432	8812	19129											
SLC13A1	6561	broad.mit.edu	37	chr7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaacacgtaagtttaCgtgtcacgtggcccttcttt	8	11	2	0	rs201362717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	237					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CGTAAGTTTACGTGTCACGTG	0.403																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(709-711)cGt>cAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C	HIS/ARG	0,4406		0,0,2203	236	181	200		710	5	1	7		200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC13A1	NM_022444.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/596	122787315	1,13005	2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787315C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.710G>A	7.37:g.122787315C>T	ENSP00000194130:p.Arg237His					SLC13A1_ENST00000539873.1_3'UTR	p.R237H	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			7	749	-			237					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.710G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588357	0.28357	0.0	1.16E-4	ENSG00000081800	ENST00000194130	T	0.02890	4.12	5.0	5.0	0.66597	.	0.047420	0.85682	D	0.000000	T	0.03390	0.0098	L	0.33339	1.005	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.15870	0.014;0.014	T	0.53429	-0.8440	10	0.31617	T	0.26	-12.2015	15.81	0.78552	0.0:1.0:0.0:0.0	.	237;237	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	237	ENSP00000194130:R237H	ENSP00000194130:R237H	R	-	2	0	SLC13A1	122574551	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.920000	0.63390	2.337000	0.79520	0.563000	0.77884	CGT		0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		11	103	0	0	0	1	0	11	103					T	122787315	C	T	122787315	3	4	79	1	0	0	0	0	1	0	0	0	14441	536	19	1	1113	1	SLC13A1	7	122787315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24084	122787315	36351348	8813	19130											
IQUB	154865	broad.mit.edu	37	chr7	123152119	123152119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgcttttcatgatgttgCggagtatatgaaacttgtct	9	5	2	2	rs371912901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000434450.1_Silent_p.P92P|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(274-276)ccG>ccA		IQ motif and ubiquitin domain containing		C		0,4406		0,0,2203	216	185	196		276	-0.1	0	7		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IQUB	NM_178827.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		92/792	123152119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123152119C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.276G>A	7.37:g.123152119C>T						IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	p.P92P			Q8NA54	IQUB_HUMAN			2	852	-			92					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.276G>A	CCDS5787.1																																																																																				0.388	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		85	430	0	0	0	1	0	85	430					T	123152119	C	T	123152119	2	4	79	1	0	0	0	0	0	0	0	1	7850	755	27	1		1	IQUB	7	123152119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364804	123152119	35986544	8814	19131											
ASB15	142685	broad.mit.edu	37	chr7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggttttgatgtcaacaCtctacttgctgaccacattt	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	336					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1006-1008)aCt>aTt		ankyrin repeat and SOCS box containing 15							184	168	173					7																	123269055		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269055C>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1007C>T	7.37:g.123269055C>T	ENSP00000397655:p.Thr336Ile					ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I	p.T336I			Q8WXK1	ASB15_HUMAN			12	1528	+			336					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1007C>T	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254323	0.10185	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	6.17	1.25	0.21368	Ankyrin repeat-containing domain (4);	0.886714	0.09976	N	0.731572	T	0.05868	0.0153	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37384	-0.9708	10	0.37606	T	0.19	-38.4327	2.7332	0.05233	0.1186:0.4693:0.2298:0.1823	.	336	Q8WXK1	ASB15_HUMAN	I	336;336;336;336;125;336	ENSP00000397655:T336I;ENSP00000390963:T336I;ENSP00000416433:T336I;ENSP00000438643:T336I;ENSP00000275699:T336I	ENSP00000275699:T336I	T	+	2	0	ASB15	123056291	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.211000	0.17474	-0.040000	0.13580	0.655000	0.94253	ACT		0.433	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			77	411	0	0	0	1	0	77	411					T	123269055	C	T	123269055	3	4	79	1	0	0	0	0	1	0	0	0	1020	565	20	2	1033	2	ASB15	7	123269055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116936	123269055	35869608	8815	19132											
ASB15	142685	broad.mit.edu	37	chr7	123269160	123269160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacagaagtccttctggCtgcaggtgcagacccaaact	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	ENST00000451558.1	+	12	1633	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	371					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTCCTTCTGGCTGCAGGTGCA	0.473																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1111-1113)gCt>gAt		ankyrin repeat and SOCS box containing 15							124	109	114					7																	123269160		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269160C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1112C>A	7.37:g.123269160C>A	ENSP00000397655:p.Ala371Asp					ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D	p.A371D			Q8WXK1	ASB15_HUMAN			12	1633	+			371					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1112C>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788999	0.31685	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	6.06	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.652169	0.14645	N	0.306969	T	0.40196	0.1107	N	0.02697	-0.525	0.25479	N	0.98776	B	0.26318	0.146	B	0.29176	0.099	T	0.38067	-0.9678	10	0.44086	T	0.13	-12.5825	13.2069	0.59803	0.5448:0.4552:0.0:0.0	.	371	Q8WXK1	ASB15_HUMAN	D	371;371;371;371;160;371	ENSP00000397655:A371D;ENSP00000390963:A371D;ENSP00000416433:A371D;ENSP00000438643:A371D;ENSP00000275699:A371D	ENSP00000275699:A371D	A	+	2	0	ASB15	123056396	0.829000	0.29322	1.000000	0.80357	0.971000	0.66376	0.324000	0.19610	1.496000	0.48567	0.655000	0.94253	GCT		0.473	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			14	366	1	0	9.31168e-06	1	9.55451e-06	14	366					A	123269160	C	A	123269160	3	1	79	1	0	0	0	0	1	0	0	0	1020	797	28	3	1138	3	ASB15	7	123269160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	123269160	35869503	8816	19133											
WASL	8976	broad.mit.edu	37	chr7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaggaggaggaggacCtgagttgtgtggagggggag	23	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	298	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)			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						ggaggaggacctgagttgtgt	0.602																																						ENST00000223023.4																			0				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						c.(892-894)Ggt>Tgt		Wiskott-Aldrich syndrome-like							46	50	49					7																	123332856		2202	4298	6500	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.chr7:123332856C>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.892G>T	7.37:g.123332856C>A	ENSP00000223023:p.Gly298Cys						p.G298C	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1224	-			298			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.892G>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556491	0.45487	.	.	ENSG00000106299	ENST00000223023	D	0.90261	-2.64	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112073	0.64402	D	0.000014	D	0.90903	0.7141	L	0.60455	1.87	0.42982	D	0.994466	D	0.58620	0.983	P	0.46975	0.533	D	0.90559	0.4514	10	0.39692	T	0.17	-2.6205	19.209	0.93747	0.0:1.0:0.0:0.0	.	298	O00401	WASL_HUMAN	C	298	ENSP00000223023:G298C	ENSP00000223023:G298C	G	-	1	0	WASL	123120092	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	4.111000	0.57838	2.528000	0.85240	0.644000	0.83932	GGT		0.602	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		77	369	1	0	3.02199e-20	1	3.38447e-20	77	369					A	123332856	C	A	123332856	3	1	79	1	0	0	0	0	1	0	0	0	17310	681	24	3	637	3	WASL	7	123332856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63696	123332856	35805807	8817	19134											
HYAL4	23553	broad.mit.edu	37	chr7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaaggggtccccattaatgGaggtctcccacagaacataa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(328-330)gGa>gTa		hyaluronoglucosaminidase 4							67	73	71					7																	123508656		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508656G>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.329G>T	7.37:g.123508656G>T	ENSP00000223026:p.Gly110Val					HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	967	+			110					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.329G>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.56103	0.48;0.48	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86451	0.1773	9	.	.	.	-35.1934	19.3677	0.94471	0.0:0.0:1.0:0.0	.	110;110	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	110	ENSP00000223026:G110V;ENSP00000417186:G110V	.	G	+	2	0	HYAL4	123295892	1.000000	0.71417	0.960000	0.40013	0.419000	0.31324	9.792000	0.99085	2.582000	0.87167	0.655000	0.94253	GGA		0.428	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		86	395	1	0	1.32764e-51	1	1.64847e-51	86	395					T	123508656	G	T	123508656	3	4	79	1	0	0	0	0	1	0	0	0	7496	1174	41	3	331	3	HYAL4	7	123508656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175800	123508656	35630007	8818	19135											
HYAL4	23553	broad.mit.edu	37	chr7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagttaccacatagaggCctctgaggacggggagttta	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	409					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1225-1227)gCc>gTc		hyaluronoglucosaminidase 4							128	123	125					7																	123516989		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516989C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1226C>T	7.37:g.123516989C>T	ENSP00000223026:p.Ala409Val					HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			5	1864	+			409					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.1226C>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357485	0.11239	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17691	2.26;2.26	5.86	1.63	0.23807	Epidermal growth factor-like (1);	0.774566	0.12155	N	0.494491	T	0.08268	0.0206	N	0.12887	0.27	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.41928	-0.9481	10	0.13108	T	0.6	0.0162	8.2129	0.31494	0.0:0.5058:0.0:0.4942	.	409	Q2M3T9	HYAL4_HUMAN	V	409	ENSP00000223026:A409V;ENSP00000417186:A409V	ENSP00000223026:A409V	A	+	2	0	HYAL4	123304225	0.000000	0.05858	0.932000	0.37286	0.464000	0.32679	-0.133000	0.10451	0.348000	0.23949	0.650000	0.86243	GCC		0.483	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		86	381	0	0	0	1	0	86	381					T	123516989	C	T	123516989	3	4	79	1	0	0	0	0	1	0	0	0	7496	739	26	2	1236	2	HYAL4	7	123516989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	123516989	35621674	8819	19136											
POT1	25913	broad.mit.edu	37	chr7	124464052	124464052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaactgtggtgtcaaaaatCtgatagcaaatttgattatc	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	623			Q -> H (in CMM10; increased telomere intensity signals and telomere fragility). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGTCAAAAATCTGATAGCAAA	0.343																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1867-1869)caG>caA		protection of telomeres 1							189	163	172					7																	124464052		2201	4299	6500	SO:0001819	synonymous_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124464052C>T	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1869G>A	7.37:g.124464052C>T						POT1_ENST00000393329.1_Silent_p.Q492Q	p.Q623Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			19	2467	-			623					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	c.1869G>A	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924143	0.18056	.	.	ENSG00000128513	ENST00000436534	.	.	.	5.95	2.16	0.27623	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-10.601	7.4549	0.27261	0.0:0.6136:0.0:0.3864	.	.	.	.	N	122	.	.	D	-	1	0	POT1	124251288	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.186000	0.16978	0.862000	0.35528	0.655000	0.94253	GAT		0.343	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			7	120	0	0	0	1	0	7	120					T	124464052	C	T	124464052	2	4	79	1	0	0	0	0	0	0	0	1	12302	912	32	2		2	POT1	7	124464052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	947063	124464052	34674611	8820	19137											
POT1	25913	broad.mit.edu	37	chr7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcagaacttctgatgctgGaatctggaagaatttgtcct	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	569					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1705-1707)Cca>Tca		protection of telomeres 1							56	56	56					7																	124465393		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124465393G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1705C>T	7.37:g.124465393G>A	ENSP00000350249:p.Pro569Ser					POT1_ENST00000393329.1_Missense_Mutation_p.P438S	p.P569S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			18	2303	-			569					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1705C>T	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015367|2.015367	0.35511|0.35511	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.46063|.	0.97;0.88|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.207319|.	0.44902|.	D|.	0.000417|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.52573|0.52573	1.65|1.65	0.39108|0.39108	D|D	0.961418|0.961418	D|.	0.53312|.	0.959|.	P|.	0.46076|.	0.503|.	T|T	0.60556|0.60556	-0.7240|-0.7240	10|5	0.21540|.	T|.	0.41|.	-19.2466|-19.2466	10.2755|10.2755	0.43507|0.43507	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	569|.	Q9NUX5|.	POTE1_HUMAN|.	S|F	569;438|67	ENSP00000350249:P569S;ENSP00000377002:P438S|.	ENSP00000350249:P569S|.	P|S	-|-	1|2	0|0	POT1|POT1	124252629|124252629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	4.430000|4.430000	0.59907|0.59907	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.294	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			23	143	0	0	0	1	0	23	143					A	124465393	G	A	124465393	3	1	79	1	0	0	0	0	1	0	0	0	12302	1174	41	2	207	2	POT1	7	124465393	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1341	124465393	34673270	8821	19138											
POT1	25913	broad.mit.edu	37	chr7	124483018	124483018	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactgatgatctgtaagtaCtgtaaagaatttttatattc	6	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.e13-1		protection of telomeres 1							70	63	66					7																	124483018		2203	4300	6503	SO:0001630	splice_region_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124483018C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1007-1G>T	7.37:g.124483018C>A						POT1_ENST00000393329.1_Splice_Site		NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			13	1605	-								O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37		CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863051	0.51482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.207	0.89858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124270254	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	5.582000	0.67477	2.641000	0.89580	0.591000	0.81541	.		0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Intron	20	89	1	0	2.39187e-15	1	2.61288e-15	20	89					A	124483018	C	A	124483018	5	1	79	1	0	0	0	0	0	0	1	0	12302	579	20	3	926	3	POT1	7	124483018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17625	124483018	34655645	8822	19139											
GRM8	2918	broad.mit.edu	37	chr7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtcaggcggaaccactcGagagaaaaagtcatacctgg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	194				R -> A (in Ref. 1; AAB72040). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAACCACTCGAGAGAAAAAG	0.488										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(580-582)Cga>Tga		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						143	142	142					7																	126746697		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746697G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.580C>T	7.37:g.126746697G>A	ENSP00000344173:p.Arg194*	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*	p.R194*			O00222	GRM8_HUMAN			3	1388	-		Prostate(267;0.186)	194	R -> A (in Ref. 1; AAB72040).				A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.580C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	38	7.190590	0.98125	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.91	4.02	0.46733	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6223	0.62144	0.0:0.0:0.8439:0.1561	.	.	.	.	X	194;194;194;194;194;4	.	ENSP00000344173:R194X	R	-	1	2	GRM8	126533933	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.990000	0.88215	1.038000	0.40049	0.563000	0.77884	CGA		0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			62	225	0	0	0	1	0	62	225					A	126746697	G	A	126746697	4	1	79	1	0	0	0	0	0	1	0	0	6833	1066	37	1	2232	1	GRM8	7	126746697	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263679	126746697	32391966	8823	19140											
ZNF800	168850	broad.mit.edu	37	chr7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacgagtttcataagtgCaaagaggacacttgtagaat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTCATAAGTGCAAAGAGGACA	0.363																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1570-1572)tGc>tAc		zinc finger protein 800							73	67	69					7																	127013819		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013819C>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1571G>A	7.37:g.127013819C>T	ENSP00000376989:p.Cys524Tyr					ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y	p.C524Y			Q2TB10	ZN800_HUMAN			5	2162	-			524					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1571G>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096688	0.56075	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99176	-5.52;-5.52;-5.52	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	L	0.32530	0.975	0.40964	D	0.984644	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99066	1.0832	8	.	.	.	-12.6818	19.6475	0.95784	0.0:1.0:0.0:0.0	.	427;524	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	524	ENSP00000376989:C524Y;ENSP00000265827:C524Y;ENSP00000376988:C524Y	.	C	-	2	0	ZNF800	126801055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		74	354	0	0	0	1	0	74	354					T	127013819	C	T	127013819	3	4	79	1	0	0	0	0	1	0	0	0	18222	710	25	2	431	2	ZNF800	7	127013819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267122	127013819	32124844	8824	19141											
ZNF800	168850	broad.mit.edu	37	chr7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgttggcagtattattaGggcctttttctcttttagag	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTATTATTAGGGCCTTTTTC	0.353																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1189-1191)cCt>cAt		zinc finger protein 800							94	101	99					7																	127014200		2203	4298	6501	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014200G>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1190C>A	7.37:g.127014200G>T	ENSP00000376989:p.Pro397His					ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H	p.P397H			Q2TB10	ZN800_HUMAN			5	1781	-			397					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1190C>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156460	0.21454	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.68	5.68	0.88126	.	0.134805	0.49305	D	0.000150	T	0.11110	0.0271	N	0.08118	0	0.30170	N	0.801362	D;D	0.56746	0.977;0.977	P;P	0.49561	0.615;0.615	T	0.31052	-0.9957	8	.	.	.	-3.818	14.3948	0.67003	0.0:0.1473:0.8527:0.0	.	300;397	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	397	ENSP00000376989:P397H;ENSP00000265827:P397H;ENSP00000376988:P397H	.	P	-	2	0	ZNF800	126801436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.676000	0.46883	2.685000	0.91497	0.650000	0.86243	CCT		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		99	539	1	0	1.59803e-59	1	2.00716e-59	99	539					T	127014200	G	T	127014200	3	4	79	1	0	0	0	0	1	0	0	0	18222	1000	35	3	812	3	ZNF800	7	127014200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	127014200	32124463	8825	19142											
ZNF800	168850	broad.mit.edu	37	chr7	127014937	127014937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacttcaataggattAtcagtcctcgaaatatattg	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000393312.1_Silent_p.D151D			Q2TB10	ZN800_HUMAN	zinc finger protein 800	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAATAGGATTATCAGTCCTCG	0.368																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(451-453)gaT>gaC		zinc finger protein 800							115	110	111					7																	127014937		2203	4300	6503	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014937A>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.453T>C	7.37:g.127014937A>G						ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000393312.1_Silent_p.D151D	p.D151D			Q2TB10	ZN800_HUMAN			5	1044	-			151					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.453T>C	CCDS5795.1																																																																																				0.368	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		71	387	0	0	0	1	0	71	387					G	127014937	A	G	127014937	2	3	79	1	0	0	0	0	0	0	0	1	18222	446	16	4		4	ZNF800	7	127014937	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	737	127014937	32123726	8826	19143											
GCC1	79571	broad.mit.edu	37	chr7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgggcattatctccaggtCacagagcttctccacatcca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	461					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1381-1383)Gac>Tac		GRIP and coiled-coil domain containing 1							99	102	101					7																	127223015		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223015C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1381G>T	7.37:g.127223015C>A	ENSP00000318821:p.Asp461Tyr					GCC1_ENST00000497650.1_5'UTR	p.D461Y	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1805	-			461					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1381G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582210	0.46006	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.12	2.34	0.29019	.	0.224065	0.47852	D	0.000209	T	0.10637	0.0260	L	0.29908	0.895	0.40906	D	0.984191	P	0.44195	0.828	B	0.42653	0.394	T	0.09662	-1.0664	10	0.59425	D	0.04	-14.9262	7.7853	0.29089	0.0:0.735:0.0:0.265	.	461	Q96CN9	GCC1_HUMAN	Y	461	ENSP00000318821:D461Y	ENSP00000318821:D461Y	D	-	1	0	GCC1	127010251	0.233000	0.23772	0.980000	0.43619	0.992000	0.81027	0.619000	0.24388	0.278000	0.22164	0.655000	0.94253	GAC		0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		122	528	1	0	6.92432e-61	1	8.71362e-61	122	528					A	127223015	C	A	127223015	3	1	79	1	0	0	0	0	1	0	0	0	6313	826	29	3	950	3	GCC1	7	127223015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208078	127223015	31915648	8827	19144											
GCC1	79571	broad.mit.edu	37	chr7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcctcctgcagcagcTtctggagctcacgcagcatc	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	252					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(754-756)aAg>aCg		GRIP and coiled-coil domain containing 1							75	73	74					7																	127224482		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224482T>G	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.755A>C	7.37:g.127224482T>G	ENSP00000318821:p.Lys252Thr		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K252T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1179	-			252					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.755A>C	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016296	0.75161	.	.	ENSG00000179562	ENST00000321407	T	0.46819	0.86	5.91	5.91	0.95273	.	0.099286	0.64402	D	0.000002	T	0.60183	0.2249	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	P	0.60789	0.879	T	0.60667	-0.7218	10	0.33141	T	0.24	-24.8249	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	252	Q96CN9	GCC1_HUMAN	T	252	ENSP00000318821:K252T	ENSP00000318821:K252T	K	-	2	0	GCC1	127011718	0.992000	0.36948	0.994000	0.49952	0.988000	0.76386	2.219000	0.42899	2.254000	0.74563	0.533000	0.62120	AAG		0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		63	339	0	0	0	1	0	63	339					G	127224482	T	G	127224482	3	3	79	1	0	0	0	0	1	0	0	0	6313	1609	56	4	1580	4	GCC1	7	127224482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1467	127224482	31914181	8828	19145											
GCC1	79571	broad.mit.edu	37	chr7	127224652	127224652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggcatcctctaagtcCtgtttcatctttttcttgtc	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	195					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)caG>caA		GRIP and coiled-coil domain containing 1							97	106	103					7																	127224652		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224652C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.585G>A	7.37:g.127224652C>T			OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.Q195Q	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1009	-			195					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.585G>A	CCDS5796.1																																																																																				0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		120	550	0	0	0	1	0	120	550					T	127224652	C	T	127224652	2	4	79	1	0	0	0	0	0	0	0	1	6313	680	24	2		2	GCC1	7	127224652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	127224652	31914011	8829	19146											
GCC1	79571	broad.mit.edu	37	chr7	127225162	127225162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtactggagaagctgcttCttctgggtctctatagtctc	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	25					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(73-75)aaG>aaA		GRIP and coiled-coil domain containing 1							97	101	100					7																	127225162		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225162C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.75G>A	7.37:g.127225162C>T			OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K25K	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	499	-			25					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.75G>A	CCDS5796.1																																																																																				0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		131	608	0	0	0	1	0	131	608					T	127225162	C	T	127225162	2	4	79	1	0	0	0	0	0	0	0	1	6313	912	32	2		2	GCC1	7	127225162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	127225162	31913501	8830	19147											
ARF5	381	broad.mit.edu	37	chr7	127230185	127230185	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatctgctgatgaactccaGaagatggtgagtacccagag	12	8	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	108					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542																																						ENST00000000233.5																			0				cervix(2)|kidney(1)|lung(10)|ovary(1)	14						c.(322-324)caG>caA		ADP-ribosylation factor 5							106	108	107					7																	127230185		2203	4300	6503	SO:0001819	synonymous_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127230185G>A		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.324G>A	7.37:g.127230185G>A						GCC1_ENST00000497650.1_Intron	p.Q108Q	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN			4	478	+			108					P26437	Silent	SNP	ENST00000000233.5	37	c.324G>A	CCDS34745.1																																																																																				0.542	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		72	360	0	0	0	1	0	72	360					A	127230185	G	A	127230185	2	1	79	1	0	0	0	0	0	0	0	1	847	933	33	2		2	ARF5	7	127230185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5023	127230185	31908478	8831	19148											
FSCN3	29999	broad.mit.edu	37	chr7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagacctctacacaccacttCttgtcccatgtagaccggct	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	198						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(592-594)ttC>ttA		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							181	146	158					7																	127235810		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235810C>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.594C>A	7.37:g.127235810C>A	ENSP00000265825:p.Phe198Leu					FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	p.F198L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	813	+			198					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.594C>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496496	0.64186	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.52526	1.28;0.66	5.44	1.53	0.23141	Actin cross-linking (1);	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	L	0.55103	1.725	0.32960	D	0.520866	D;D	0.76494	0.997;0.999	P;P	0.62740	0.906;0.874	T	0.64807	-0.6320	10	0.49607	T	0.09	-32.0539	10.5591	0.45135	0.0:0.6852:0.0:0.3148	.	64;198	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	198;64	ENSP00000265825:F198L;ENSP00000412243:F64L	ENSP00000265825:F198L	F	+	3	2	FSCN3	127023046	0.250000	0.23951	0.911000	0.35937	0.912000	0.54170	0.019000	0.13444	0.088000	0.17205	-0.813000	0.03139	TTC		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		82	343	1	0	1.92282e-43	1	2.34754e-43	82	343					A	127235810	C	A	127235810	3	1	79	1	0	0	0	0	1	0	0	0	6096	912	32	3	600	3	FSCN3	7	127235810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5625	127235810	31902853	8832	19149											
FSCN3	29999	broad.mit.edu	37	chr7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtcctgcagggggcGcttcctgggcattgcaccca	13	15	0	0	rs144391719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	356						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16483	0.0		0.001	False		,,,				2504	0.0					ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1066-1068)cGc>cAc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	109	111		1067	5.9	1	7	dbSNP_134	111	0,8600		0,0,4300	yes	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/499	127238595	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127238595G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1067G>A	7.37:g.127238595G>A	ENSP00000265825:p.Arg356His					FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	p.R356H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			4	1286	+			356					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1067G>A	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.53	2.861201	0.51482	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.51574	1.39;0.7	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000006	T	0.60051	0.2239	L	0.38531	1.155	0.38031	D	0.935151	B;D	0.89917	0.101;1.0	B;D	0.75484	0.026;0.986	T	0.63242	-0.6681	10	0.66056	D	0.02	-17.9026	15.8634	0.79043	0.0:0.0:1.0:0.0	.	222;356	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	356;222	ENSP00000265825:R356H;ENSP00000412243:R222H	ENSP00000265825:R356H	R	+	2	0	FSCN3	127025831	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	5.008000	0.63991	2.826000	0.97356	0.561000	0.74099	CGC		0.582	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		139	655	0	0	0	1	0	139	655					A	127238595	G	A	127238595	3	1	79	1	0	0	0	0	1	0	0	0	6096	1087	38	1	1081	1	FSCN3	7	127238595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2785	127238595	31900068	8833	19150											
PAX4	5078	broad.mit.edu	37	chr7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtagtaacgccctaggaTcttgctcacacagccattag	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	57	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(145-147)Atc>Gtc		paired box 4							76	72	74					7																	127255125		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255125T>C		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.145A>G	7.37:g.127255125T>C	ENSP00000339906:p.Ile49Val					PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	p.I49V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	350	-			57			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.145A>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700177	0.88924	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99519	-5.86;-5.86;-6.07	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.987;0.988;0.999	D;D;D;D	0.91635	0.999;0.983;0.99;0.995	D	0.98442	1.0587	10	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.0:1.0	.	49;47;57;47	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	49;57;57;47	ENSP00000339906:I49V;ENSP00000344297:I57V;ENSP00000451923:I47V	ENSP00000344297:I57V	I	-	1	0	PAX4	127042361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.902000	0.87389	2.175000	0.68902	0.533000	0.62120	ATC		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			81	369	0	0	0	1	0	81	369					C	127255125	T	C	127255125	3	2	79	1	0	0	0	0	1	0	0	0	11523	1435	50	4	918	4	PAX4	7	127255125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16530	127255125	31883538	8834	19151											
LRRC4	64101	broad.mit.edu	37	chr7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcacccggttgaaggCgtaagaggggatgctttcga	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	166					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(496-498)Gcc>Acc		leucine rich repeat containing 4							65	70	69					7																	127670198		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670198C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.496G>A	7.37:g.127670198C>T	ENSP00000249363:p.Ala166Thr					SND1_ENST00000354725.3_Intron	p.A166T	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	753	-			166					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.496G>A	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412267	0.62511	.	.	ENSG00000128594	ENST00000249363	D	0.92752	-3.1	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.93396	0.7894	L	0.47078	1.49	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.92091	0.5680	10	0.31617	T	0.26	.	14.6035	0.68460	0.0:1.0:0.0:0.0	.	166	Q9HBW1	LRRC4_HUMAN	T	166	ENSP00000249363:A166T	ENSP00000249363:A166T	A	-	1	0	LRRC4	127457434	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.841000	0.69409	2.250000	0.74265	0.655000	0.94253	GCC		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		65	469	0	0	0	1	0	65	469					T	127670198	C	T	127670198	3	4	79	1	0	0	0	0	1	0	0	0	9035	768	27	1	1469	1	LRRC4	7	127670198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415073	127670198	31468465	8835	19152											
SND1	27044	broad.mit.edu	37	chr7	127714631	127714631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacggtgccaacctgtcCgtcctgctggtggagcacgc	13	14	0	0	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1855-1857)tcC>tcT		staphylococcal nuclease and tudor domain containing 1		C		0,4406		0,0,2203	105	67	80		1857	-4.7	1	7	dbSNP_134	80	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	SND1	NM_014390.2		0,12,6491	TT,TC,CC		0.1395,0.0,0.0923		619/911	127714631	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127714631C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1857C>T	7.37:g.127714631C>T							p.S619S	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			17	2051	+			619			TNase-like 4.		Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.1857C>T	CCDS34747.1																																																																																				0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		19	136	0	0	0	1	0	19	136					T	127714631	C	T	127714631	2	4	79	1	0	0	0	0	0	0	0	1	14894	639	23	1		1	SND1	7	127714631	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44433	127714631	31424032	8836	19153											
SND1	27044	broad.mit.edu	37	chr7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccacccgcctgggtaccCtatcacctgccttcagcact	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	780	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2338-2340)Cta>Ata		staphylococcal nuclease and tudor domain containing 1							130	92	105					7																	127727023		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127727023C>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2338C>A	7.37:g.127727023C>A	ENSP00000346762:p.Leu780Ile						p.L780I	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			21	2532	+			780			Tudor.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2338C>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378334	0.42207	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.10099	2.91	5.96	2.77	0.32553	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.194552	0.45126	D	0.000396	T	0.09468	0.0233	L	0.33189	0.99	0.45378	D	0.998361	B	0.21309	0.054	B	0.35727	0.209	T	0.20672	-1.0268	10	0.26408	T	0.33	-7.5627	5.9818	0.19411	0.1567:0.6661:0.0:0.1772	.	780	Q7KZF4	SND1_HUMAN	I	780;770	ENSP00000346762:L780I	ENSP00000346762:L780I	L	+	1	2	SND1	127514259	0.994000	0.37717	0.967000	0.41034	0.808000	0.45660	2.872000	0.48467	0.862000	0.35528	0.655000	0.94253	CTA		0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		50	309	1	0	2.47907e-22	1	2.80423e-22	50	309					A	127727023	C	A	127727023	3	1	79	1	0	0	0	0	1	0	0	0	14894	680	24	3	2420	3	SND1	7	127727023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12392	127727023	31411640	8837	19154											
RBM28	55131	broad.mit.edu	37	chr7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgattttggggcctcGgtgtgaggggagcgccagga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	677					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(2029-2031)Cga>Tga		RNA binding motif protein 28							157	164	162					7																	127954833		2203	4300	6503	SO:0001587	stop_gained	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954833G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2029C>T	7.37:g.127954833G>A	ENSP00000223073:p.Arg677*					RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*	p.R677*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			17	2143	-			677					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	37	c.2029C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	41	8.805438	0.98960	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	.	0.140158	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-8.5118	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	677;536	.	ENSP00000223073:R677X	R	-	1	2	RBM28	127742069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGA		0.542	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		158	936	0	0	0	1	0	158	936					A	127954833	G	A	127954833	4	1	79	1	0	0	0	0	0	1	0	0	13178	1124	39	1	262	1	RBM28	7	127954833	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227810	127954833	31183830	8838	19155											
RBM28	55131	broad.mit.edu	37	chr7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggatgcaagacaatgcGgacatatttgagttctccaa	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	365	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1093-1095)Cgc>Tgc		RNA binding motif protein 28							119	106	111					7																	127970908		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127970908G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1093C>T	7.37:g.127970908G>A	ENSP00000223073:p.Arg365Cys					RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	p.R365C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			10	1207	-			365			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1093C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300519	0.40694	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.18810	2.19;2.19	5.52	1.76	0.24704	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390886	0.25478	N	0.030399	T	0.23846	0.0577	M	0.88310	2.945	0.44289	D	0.997157	B;B	0.33022	0.394;0.044	B;B	0.27796	0.083;0.016	T	0.04229	-1.0967	10	0.54805	T	0.06	-0.0962	3.7697	0.08636	0.3412:0.0:0.4973:0.1615	.	224;365	E9PDD9;Q9NW13	.;RBM28_HUMAN	C	365;224	ENSP00000223073:R365C;ENSP00000390517:R224C	ENSP00000223073:R365C	R	-	1	0	RBM28	127758144	0.962000	0.33011	0.979000	0.43373	0.986000	0.74619	1.934000	0.40163	0.313000	0.23062	0.655000	0.94253	CGC		0.468	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		71	326	0	0	0	1	0	71	326					A	127970908	G	A	127970908	3	1	79	1	0	0	0	0	1	0	0	0	13178	1116	39	1	1226	1	RBM28	7	127970908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	127970908	31167755	8839	19156											
RBM28	55131	broad.mit.edu	37	chr7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcttgctcctcagtgCtggtatcactctgagccagt	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(922-924)aGc>aAc		RNA binding motif protein 28							114	104	108					7																	127975620		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127975620C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.923G>A	7.37:g.127975620C>T	ENSP00000223073:p.Ser308Asn					RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	p.S308N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			8	1037	-			308					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.923G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216529	0.22373	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.92;2.01;2.13	5.52	1.45	0.22620	.	0.603956	0.19156	N	0.121337	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.20046	T	0.44	-0.1468	7.9257	0.29872	0.0:0.6765:0.0:0.3235	.	167;308	E9PDD9;Q9NW13	.;RBM28_HUMAN	N	308;167;277	ENSP00000223073:S308N;ENSP00000390517:S167N;ENSP00000418071:S277N	ENSP00000223073:S308N	S	-	2	0	RBM28	127762856	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.157000	0.16402	0.023000	0.15187	0.561000	0.74099	AGC		0.423	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		59	234	0	0	0	1	0	59	234					T	127975620	C	T	127975620	3	4	79	1	0	0	0	0	1	0	0	0	13178	797	28	2	1404	2	RBM28	7	127975620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4712	127975620	31163043	8840	19157											
RBM28	55131	broad.mit.edu	37	chr7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaacaaaaccaaaacCgcgcatcttcccatctgtgt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(463-465)Ggt>Agt		RNA binding motif protein 28							100	93	96					7																	127978382		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127978382C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.463G>A	7.37:g.127978382C>T	ENSP00000223073:p.Gly155Ser					RBM28_ENST00000415472.2_Intron	p.G155S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			5	577	-			155			RRM 2.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.463G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284381	0.95517	.	.	ENSG00000106344	ENST00000223073;ENST00000459726	D;T	0.83419	-1.72;1.69	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94420	0.7640	10	0.87932	D	0	-14.3256	17.3973	0.87449	0.0:1.0:0.0:0.0	.	155	Q9NW13	RBM28_HUMAN	S	155;189	ENSP00000223073:G155S;ENSP00000420503:G189S	ENSP00000223073:G155S	G	-	1	0	RBM28	127765618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.401000	0.73256	2.712000	0.92718	0.650000	0.86243	GGT		0.418	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		36	225	0	0	0	1	0	36	225					T	127978382	C	T	127978382	3	4	79	1	0	0	0	0	1	0	0	0	13178	652	23	1	1876	1	RBM28	7	127978382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	127978382	31160281	8841	19158											
IMPDH1	3614	broad.mit.edu	37	chr7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccagctcatcgcaaTcattgacgataggcagcttc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000480861.1	-	7	703	c.626A>G	c.(625-627)gAt>gGt	p.D209G	IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D299G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTCATCGCAATCATTGACGAT	0.547											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(895-897)gAt>gGt		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						74	76	75					7																	128038646		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038646T>C		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.626A>G	7.37:g.128038646T>C	ENSP00000420185:p.Asp209Gly		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_ENST00000480861.1_Missense_Mutation_p.D209G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G	p.D299G	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			10	1246	-			214						Missense_Mutation	SNP	ENST00000480861.1	37	c.896A>G	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786326	0.31593	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.138458	0.64402	D	0.000004	D	0.89853	0.6835	L	0.50847	1.595	0.48830	D	0.999718	B;B;B;B;B;B;B;B	0.15473	0.005;0.001;0.001;0.001;0.004;0.006;0.013;0.001	B;B;B;B;B;B;B;B	0.21151	0.013;0.021;0.014;0.022;0.033;0.008;0.008;0.012	D	0.86034	0.1515	10	0.51188	T	0.08	-16.798	7.8776	0.29603	0.0:0.0913:0.0:0.9087	.	266;209;214;230;289;263;299;189	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	G	266;299;189;289;230;263;189;213;209;230	ENSP00000399400:D266G;ENSP00000345096:D299G;ENSP00000420803:D189G;ENSP00000346219:D289G;ENSP00000367989:D230G;ENSP00000265385:D263G;ENSP00000342438:D189G;ENSP00000417296:D213G;ENSP00000420185:D209G;ENSP00000419609:D230G	ENSP00000345096:D299G	D	-	2	0	IMPDH1	127825882	1.000000	0.71417	0.752000	0.31206	0.134000	0.20937	4.207000	0.58480	2.016000	0.59253	0.533000	0.62120	GAT		0.547	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		87	422	0	0	0	1	0	87	422					C	128038646	T	C	128038646	3	2	79	1	0	0	0	0	1	0	0	0	7756	1435	50	4	935	4	IMPDH1	7	128038646	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60264	128038646	31100017	8842	19159											
METTL2B	55798	broad.mit.edu	37	chr7	128119258	128119258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaatgacttctacaaAatccacgaaaatgggttttt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119258A>C	ENST00000262432.8	+	3	286	c.249A>C	c.(247-249)aaA>aaC	p.K83N	METTL2B_ENST00000480046.1_Missense_Mutation_p.K18N|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTCTACAAAATCCACGAAA	0.328																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(52-54)aaA>aaC		methyltransferase like 2B							30	32	32					7																	128119258		2192	4274	6466	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119258A>C	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.249A>C	7.37:g.128119258A>C	ENSP00000262432:p.Lys83Asn					METTL2B_ENST00000262432.8_Missense_Mutation_p.K83N	p.K18N			Q6P1Q9	MTL2B_HUMAN			2	169	+			83					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.54A>C	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	A	8.219	0.801985	0.16397	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03951	3.75;3.75;3.75	2.86	1.68	0.24146	.	0.134389	0.64402	D	0.000003	T	0.09598	0.0236	M	0.86343	2.81	0.27564	N	0.950084	B;B	0.33266	0.404;0.276	B;B	0.39531	0.302;0.142	T	0.10917	-1.0609	10	0.51188	T	0.08	-3.801	3.1863	0.06602	0.6121:0.2465:0.1414:0.0	.	18;83	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	77;83;18	ENSP00000418634:K77N;ENSP00000262432:K83N;ENSP00000418402:K18N	ENSP00000262432:K83N	K	+	3	2	METTL2B	127906494	1.000000	0.71417	0.652000	0.29579	0.643000	0.38383	1.418000	0.34782	0.332000	0.23536	0.333000	0.21579	AAA		0.328	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		9	305	0	0	0	1	0	9	305					C	128119258	A	C	128119258	3	2	79	1	0	0	0	0	1	0	0	0	9541	11	1	4	259	4	METTL2B	7	128119258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80612	128119258	31019405	8843	19160											
METTL2B	55798	broad.mit.edu	37	chr7	128119557	128119557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcctcagccacctaccGaatactggaggtaacctttt	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119557G>A	ENST00000262432.8	+	3	585	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	METTL2B_ENST00000480046.1_Missense_Mutation_p.R118Q|METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCACCTACCGAATACTGGAG	0.413																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(352-354)cGa>cAa		methyltransferase like 2B							67	75	72					7																	128119557		2182	4278	6460	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119557G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.548G>A	7.37:g.128119557G>A	ENSP00000262432:p.Arg183Gln					METTL2B_ENST00000262432.8_Missense_Mutation_p.R183Q|METTL2B_ENST00000473488.1_3'UTR	p.R118Q			Q6P1Q9	MTL2B_HUMAN			2	468	+			183					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.353G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382232	0.61845	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.16743	3.45;2.32;2.32	2.52	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	M	0.80332	2.49	0.48341	D	0.999634	D;D	0.76494	0.997;0.999	P;D	0.66979	0.875;0.948	T	0.07751	-1.0756	10	0.59425	D	0.04	0.0705	7.4037	0.26979	0.1419:0.0:0.8581:0.0	.	118;183	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	177;183;118	ENSP00000418634:R177Q;ENSP00000262432:R183Q;ENSP00000418402:R118Q	ENSP00000262432:R183Q	R	+	2	0	METTL2B	127906793	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.022000	0.93678	0.407000	0.25591	-1.038000	0.02383	CGA		0.413	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		19	287	0	0	0	1	0	19	287					A	128119557	G	A	128119557	3	1	79	1	0	0	0	0	1	0	0	0	9541	1058	37	1	558	1	METTL2B	7	128119557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	128119557	31019106	8844	19161											
CALU	813	broad.mit.edu	37	chr7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactgtggatgagctcaaaGactggattaaatttgcacaa	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000249364.4	+	3	385	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	CALU_ENST00000542996.2_Intron|CALU_ENST00000449187.2_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000538546.1_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	95	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TGAGCTCAAAGACTGGATTAA	0.448																																						ENST00000535623.1																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(307-309)Gac>Tac		calumenin							131	117	122					7																	128394377		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128394377G>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.283G>T	7.37:g.128394377G>T	ENSP00000249364:p.Asp95Tyr					CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000249364.4_Missense_Mutation_p.D95Y|CALU_ENST00000538546.1_Intron	p.D103Y	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN			4	1250	+			95			EF-hand 1.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.307G>T	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536564|3.536564	0.65085|0.65085	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000342367|ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.|T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52	6.11|6.11	6.11|6.11	0.99139|0.99139	.|EF-hand-like domain (1);	.|0.996520	.|0.08137	.|N	.|0.992275	.|T	.|0.77089	.|0.4079	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|B	.|0.26120	.|0.142	.|B	.|0.41988	.|0.372	.|T	.|0.63607	.|-0.6599	.|10	.|0.54805	.|T	.|0.06	.|-4.93	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95	.|O43852	.|CALU_HUMAN	.|Y	-1|103;95;95;95;103	.|ENSP00000439139:D103Y;ENSP00000442110:D95Y;ENSP00000249364:D95Y;ENSP00000420381:D103Y	.|ENSP00000249364:D95Y	.|D	+|+	.|1	.|0	CALU|CALU	128181613|128181613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.547000|2.547000	0.45786|0.45786	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	.|GAC		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		65	333	1	0	2.165e-29	1	2.52906e-29	65	333					T	128394377	G	T	128394377	3	4	79	1	0	0	0	0	1	0	0	0	2601	942	33	3	289	3	CALU	7	128394377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274820	128394377	30744286	8845	19162											
CALU	813	broad.mit.edu	37	chr7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcagtttgttgagtttCgggataagaaccgtgatggg	16	4	0	4	rs369749257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000249364.4	+	6	823	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CALU_ENST00000542996.2_Missense_Mutation_p.R249W|CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535011.2_Intron|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.R90W|CALU_ENST00000479257.1_Missense_Mutation_p.R249W	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	241	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488																																						ENST00000542996.2																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(745-747)Cgg>Tgg		calumenin		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,4406		0,0,2203	186	175	179		721,745,745,268,721,	5.4	1	7		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,intron	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199674.1,NM_001219.4,NM_001199673.1	101,101,101,101,101,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	241/316,249/324,249/324,90/165,241/316,	128407587	2,13004	2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407587C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.721C>T	7.37:g.128407587C>T	ENSP00000249364:p.Arg241Trp					CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000249364.4_Missense_Mutation_p.R241W|CALU_ENST00000538546.1_Missense_Mutation_p.R90W	p.R249W	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN			7	1688	+			241			EF-hand 5.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.745C>T	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943568|3.943568	0.73672|0.73672	0.0|0.0	2.33E-4|2.33E-4	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82130|0.82130	0.4970|0.4970	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86073|0.86073	0.1539|0.1539	10|5	0.39692|.	T|.	0.17|.	-2.4976|-2.4976	11.8068|11.8068	0.52161|0.52161	0.1753:0.8247:0.0:0.0|0.1753:0.8247:0.0:0.0	.|.	249;241|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|L	249;90;241;241;249|72	ENSP00000438248:R249W;ENSP00000438994:R90W;ENSP00000249364:R241W;ENSP00000408838:R241W;ENSP00000420381:R249W|.	ENSP00000249364:R241W|.	R|S	+|+	1|2	2|0	CALU|CALU	128194823|128194823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.578000|2.578000	0.46051|0.46051	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.488	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		57	285	0	0	0	1	0	57	285					T	128407587	C	T	128407587	3	4	79	1	0	0	0	0	1	0	0	0	2601	875	31	1	937	1	CALU	7	128407587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13210	128407587	30731076	8846	19163											
OPN1SW	611	broad.mit.edu	37	chr7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacaggggcaatgtggtaCtgaggcccatcccacggccc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(73-75)caG>caT		opsin 1 (cone pigments), short-wave-sensitive							81	86	85					7																	128415770		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415770C>A	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.75G>T	7.37:g.128415770C>A	ENSP00000249389:p.Gln25His						p.Q25H	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			1	74	-			25					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.75G>T	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400767	0.62177	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	H	0.96576	3.845	0.49213	D	0.999768	D	0.71674	0.998	D	0.87578	0.998	T	0.77029	-0.2739	10	0.87932	D	0	.	9.0173	0.36177	0.0:0.9022:0.0:0.0978	.	25	P03999	OPSB_HUMAN	H	25	ENSP00000249389:Q25H	ENSP00000249389:Q25H	Q	-	3	2	OPN1SW	128203006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.381000	0.44336	2.538000	0.85594	0.462000	0.41574	CAG		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		84	454	1	0	4.05715e-38	1	4.88277e-38	84	454					A	128415770	C	A	128415770	3	1	79	1	0	0	0	0	1	0	0	0	10922	564	20	3	991	3	OPN1SW	7	128415770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8183	128415770	30722893	8847	19164											
CCDC136	64753	broad.mit.edu	37	chr7	128457910	128457910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggctgagacgtcgtcCtaatgcaggtactggtattg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000297788.4	+	17	3829	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000487361.1_Silent_p.S515S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1154						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3460-3462)tcC>tcT		coiled-coil domain containing 136							209	209	209					7																	128457910		2116	4233	6349	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128457910C>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.3462C>T	7.37:g.128457910C>T						CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000487361.1_Silent_p.S515S	p.S1154S	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3829	+			1154					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.3462C>T	CCDS47704.1																																																																																				0.577	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		107	617	0	0	0	1	0	107	617					T	128457910	C	T	128457910	2	4	79	1	0	0	0	0	0	0	0	1	2777	668	24	2		2	CCDC136	7	128457910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42140	128457910	30680753	8848	19165											
FLNC	2318	broad.mit.edu	37	chr7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccgcaagttccatccgCgccccaacttccgccaaatg	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTTCCATCCGCGCCCCAACTT	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(265-267)Cgc>Tgc		filamin C, gamma							59	61	60					7																	128470956		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470956C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.265C>T	7.37:g.128470956C>T	ENSP00000327145:p.Arg89Cys					FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	526	+			89			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.265C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586300	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60672	0.17;0.17	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77619	-0.2520	10	0.87932	D	0	.	8.9211	0.35612	0.1678:0.6698:0.1624:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	C	89	ENSP00000327145:R89C;ENSP00000344002:R89C	ENSP00000327145:R89C	R	+	1	0	FLNC	128258192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.195000	0.51013	0.978000	0.38470	0.561000	0.74099	CGC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			10	314	0	0	0	1	0	10	314					T	128470956	C	T	128470956	3	4	79	1	0	0	0	0	1	0	0	0	5960	768	27	1	267	1	FLNC	7	128470956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13046	128470956	30667707	8849	19166											
FLNC	2318	broad.mit.edu	37	chr7	128481264	128481264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagccaagatcgaatgTgacgacaagggggatggctc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	618					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGATCGAATGTGACGACAAGG	0.627																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1852-1854)tgT>tgC		filamin C, gamma							122	129	127					7																	128481264		2138	4230	6368	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481264T>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1854T>C	7.37:g.128481264T>C						FLNC_ENST00000346177.6_Silent_p.C618C	p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			12	2115	+			618					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1854T>C	CCDS43644.1																																																																																				0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			110	508	0	0	0	1	0	110	508					C	128481264	T	C	128481264	2	2	79	1	0	0	0	0	0	0	0	1	5960	1702	59	4		4	FLNC	7	128481264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10308	128481264	30657399	8850	19167											
FLNC	2318	broad.mit.edu	37	chr7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggatgccaaggcagccGgtgaggggaaggtgacatgc	19	8	0	2	rs374124083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1674					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGCAGCCGGTGAGGGGAA	0.607																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5020-5022)Ggt>Agt		filamin C, gamma		G	SER/GLY,SER/GLY	0,4356		0,0,2178	81	92	88		5020,5020	4.5	1	7		88	1,8539		0,1,4269	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	56,56	0,1,6447	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	1674/2693,1674/2726	128489453	1,12895	2178	4270	6448	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489453G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5020G>A	7.37:g.128489453G>A	ENSP00000327145:p.Gly1674Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	p.G1674S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5281	+			1674					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5020G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844753	0.91197	0.0	1.17E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94184	-3.37;-3.37	5.41	4.51	0.55191	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.92367	3.3	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97636	1.0145	10	0.48119	T	0.1	.	16.0085	0.80380	0.0:0.1347:0.8653:0.0	.	1674;1674	Q14315-2;Q14315	.;FLNC_HUMAN	S	1674	ENSP00000327145:G1674S;ENSP00000344002:G1674S	ENSP00000327145:G1674S	G	+	1	0	FLNC	128276689	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.869000	0.99810	1.245000	0.43885	0.655000	0.94253	GGT		0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			47	232	0	0	0	1	0	47	232					A	128489453	G	A	128489453	3	1	79	1	0	0	0	0	1	0	0	0	5960	1116	39	1	5138	1	FLNC	7	128489453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8189	128489453	30649210	8851	19168											
FLNC	2318	broad.mit.edu	37	chr7	128489608	128489608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcttcgggggtgagcacatCcccaacagccccttccacgt	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_ENST00000346177.6_Silent_p.I1725I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1725					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCACATCCCCAACAGCC	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5173-5175)atC>atT		filamin C, gamma							58	66	63					7																	128489608		2050	4196	6246	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489608C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5175C>T	7.37:g.128489608C>T						FLNC_ENST00000346177.6_Silent_p.I1725I	p.I1725I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5436	+			1725					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5175C>T	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			50	269	0	0	0	1	0	50	269					T	128489608	C	T	128489608	2	4	79	1	0	0	0	0	0	0	0	1	5960	845	30	2		2	FLNC	7	128489608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	128489608	30649055	8852	19169											
FLNC	2318	broad.mit.edu	37	chr7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgaggacagcGcctacagcgtgcgctttgtg	16	11	0	0	rs372251350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2273					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGGACAGCGCCTACAGCGT	0.632																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6817-6819)Gcc>Acc		filamin C, gamma		G	THR/ALA,THR/ALA	0,4334		0,0,2167	24	30	28		6718,6817	5	0.7	7		28	2,8514		0,2,4256	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	58,58	0,2,6423	AA,AG,GG		0.0235,0.0,0.0156	benign,benign	2240/2693,2273/2726	128494556	2,12848	2167	4258	6425	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494556G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6817G>A	7.37:g.128494556G>A	ENSP00000327145:p.Ala2273Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T|RP11-309L24.2_ENST00000469965.1_RNA	p.A2273T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			41	7078	+			2273					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6817G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615827	0.28801	0.0	2.35E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.80653	-1.4;-1.4	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059482	0.64402	D	0.000002	T	0.47173	0.1431	N	0.00321	-1.65	0.42726	D	0.993695	B;B	0.12630	0.004;0.006	B;B	0.11329	0.003;0.006	T	0.51896	-0.8647	10	0.30854	T	0.27	.	8.8771	0.35352	0.1742:0.0:0.8258:0.0	.	2240;2273	Q14315-2;Q14315	.;FLNC_HUMAN	T	2273;2240	ENSP00000327145:A2273T;ENSP00000344002:A2240T	ENSP00000327145:A2273T	A	+	1	0	FLNC	128281792	0.966000	0.33281	0.698000	0.30274	0.926000	0.56050	2.589000	0.46145	2.301000	0.77427	0.655000	0.94253	GCC		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			19	48	0	0	0	1	0	19	48					A	128494556	G	A	128494556	3	1	79	1	0	0	0	0	1	0	0	0	5960	1087	38	1	6979	1	FLNC	7	128494556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4948	128494556	30644107	8853	19170											
FLNC	2318	broad.mit.edu	37	chr7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C													tcaaggtgaaccagccagcgTcctttgccgtgcagctgaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2428	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGCCAGCGTCCTTTGCCGT	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7282-7284)Tcc>Ccc		filamin C, gamma							64	75	71					7																	128496602		2110	4203	6313	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496602T>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7282T>C	7.37:g.128496602T>C	ENSP00000327145:p.Ser2428Pro					FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	p.S2428P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			44	7543	+			2428			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7282T>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361949	0.61403	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.89095	3.005	0.58432	D	0.999995	D;P	0.76494	0.999;0.908	D;P	0.87578	0.998;0.791	D	0.93234	0.6620	10	0.41790	T	0.15	.	14.8887	0.70590	0.0:0.0:0.0:1.0	.	2395;2428	Q14315-2;Q14315	.;FLNC_HUMAN	P	2428;2395	ENSP00000327145:S2428P;ENSP00000344002:S2395P	ENSP00000327145:S2428P	S	+	1	0	FLNC	128283838	1.000000	0.71417	0.950000	0.38849	0.308000	0.27856	7.970000	0.88000	1.969000	0.57287	0.455000	0.32223	TCC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			61	447	0	0	0	1	0	61	447					C	128496602	T	C	128496602	3	2	79	1	0	0	0	0	1	0	0	0	5960	1667	58	4	7456	4	FLNC	7	128496602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2046	128496602	30642061	8854	19171	115	2									
FLNC	2318	broad.mit.edu	37	chr7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T													gaaccagccagcgtcctttgCcgtgcagctgaacggtgccc					rs200516164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7288-7290)gCc>gTc		filamin C, gamma		C	VAL/ALA,VAL/ALA	0,4218		0,0,2109	62	73	69		7190,7289	4.9	1	7		69	2,8406		0,2,4202	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	64,64	0,2,6311	TT,TC,CC		0.0238,0.0,0.0158	possibly-damaging,possibly-damaging	2397/2693,2430/2726	128496609	2,12624	2109	4204	6313	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496609C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7289C>T	7.37:g.128496609C>T	ENSP00000327145:p.Ala2430Val					FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	p.A2430V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			44	7550	+			2430			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7289C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221215	0.39201	0.0	2.38E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116802	0.56097	D	0.000026	D	0.87633	0.6226	L	0.59912	1.85	0.47905	D	0.999546	P;P	0.46020	0.55;0.871	B;P	0.54431	0.412;0.752	D	0.84706	0.0731	10	0.21540	T	0.41	.	14.983	0.71324	0.143:0.857:0.0:0.0	.	2397;2430	Q14315-2;Q14315	.;FLNC_HUMAN	V	2430;2397	ENSP00000327145:A2430V;ENSP00000344002:A2397V	ENSP00000327145:A2430V	A	+	2	0	FLNC	128283845	0.998000	0.40836	0.969000	0.41365	0.152000	0.21847	4.005000	0.57075	2.432000	0.82394	0.557000	0.71058	GCC		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			84	402	0	0	0	1	0	84	402					T	128496609	C	T	128496609	3	4	79	1	0	0	0	0	1	0	0	0	5960	739	26	2	7463	2	FLNC	7	128496609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	128496609	30642054	8855	19172	115	2									
ATP6V1F	9296	broad.mit.edu	37	chr7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacatcgcagagatggtgCggcatgccctggacgcccac	13	13	0	1	rs572332618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000249289.4	+	2	302	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	RP11-309L24.4_ENST00000461420.1_lincRNA|ATP6V1F_ENST00000492758.1_Missense_Mutation_p.R103W|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	75					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587																																						ENST00000492758.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(307-309)Cgg>Tgg		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							75	67	70					7																	128505495		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128505495C>T	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"ATPases / V-type"	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.223C>T	7.37:g.128505495C>T	ENSP00000249289:p.Arg75Trp					ATP6V1F_ENST00000249289.4_Missense_Mutation_p.R75W	p.R103W	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			3	308	+			75					C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.307C>T	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242052	0.79912	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.51817	0.69;0.69	5.02	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.97611	4.04	0.80722	D	1	P	0.35272	0.493	B	0.43478	0.421	T	0.76372	-0.2983	10	0.87932	D	0	-11.3352	12.7996	0.57578	0.425:0.575:0.0:0.0	.	75	Q16864	VATF_HUMAN	W	75;103	ENSP00000249289:R75W;ENSP00000417378:R103W	ENSP00000249289:R75W	R	+	1	2	ATP6V1F	128292731	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	3.472000	0.53114	0.455000	0.26910	0.591000	0.81541	CGG		0.587	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		37	204	0	0	0	1	0	37	204					T	128505495	C	T	128505495	3	4	79	1	0	0	0	0	1	0	0	0	1186	759	27	1	229	1	ATP6V1F	7	128505495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8886	128505495	30633168	8856	19173											
SMO	6608	broad.mit.edu	37	chr7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctccaacccattctgcCcagagcccagtccccctcag	7	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	739					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCCATTCTGCCCAGAGCCCAG	0.677			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2215-2217)Cca>Tca		smoothened, frizzled family receptor							35	33	34					7																	128852143		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128852143C>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2215C>T	7.37:g.128852143C>T	ENSP00000249373:p.Pro739Ser					RP11-286H14.8_ENST00000466717.1_RNA	p.P739S	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			12	2495	+			739					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.2215C>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473417	0.63737	.	.	ENSG00000128602	ENST00000249373	T	0.78595	-1.19	5.41	5.41	0.78517	.	0.214510	0.49916	D	0.000135	T	0.61800	0.2376	N	0.14661	0.345	0.53005	D	0.999968	P	0.39480	0.675	B	0.33960	0.173	T	0.64799	-0.6322	10	0.33940	T	0.23	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	739	Q99835	SMO_HUMAN	S	739	ENSP00000249373:P739S	ENSP00000249373:P739S	P	+	1	0	SMO	128639379	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.314000	0.72848	2.520000	0.84964	0.591000	0.81541	CCA		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		18	175	0	0	0	1	0	18	175					T	128852143	C	T	128852143	3	4	79	1	0	0	0	0	1	0	0	0	14850	623	22	2	2261	2	SMO	7	128852143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346648	128852143	30286520	8857	19174											
AHCYL2	23382	broad.mit.edu	37	chr7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaaaattggacgtcgctCtttgtctcgttccatttctc	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	143					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(427-429)tCt>tTt		adenosylhomocysteinase-like 2							110	94	99					7																	129019543		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129019543C>T	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.428C>T	7.37:g.129019543C>T	ENSP00000315931:p.Ser143Phe					AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F	p.S143F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			2	482	+			143					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.428C>T	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035825|5.035825	0.93630|0.93630	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.14;-1.12;-1.12;-1.12;-0.89	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83073|0.83073	0.5175|0.5175	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.76494	.|0.987;0.987;0.999;0.987;0.999	.|P;P;D;P;D	.|0.72338	.|0.878;0.878;0.949;0.878;0.977	D|D	0.85057|0.85057	0.0932|0.0932	5|10	.|0.87932	.|D	.|0	-14.9057|-14.9057	18.0999|18.0999	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;41;143;40;142	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	50|143;142;62;41;40;41;40;41	.|ENSP00000315931:S143F;ENSP00000413639:S142F;ENSP00000431787:S62F;ENSP00000420459:S40F;ENSP00000405267:S41F;ENSP00000420801:S40F;ENSP00000419608:S41F	.|ENSP00000315931:S143F	L|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128806779|128806779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.696000|7.696000	0.84270|0.84270	2.527000|2.527000	0.85204|0.85204	0.555000|0.555000	0.69702|0.69702	CTT|TCT		0.428	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			35	155	0	0	0	1	0	35	155					T	129019543	C	T	129019543	3	4	79	1	0	0	0	0	1	0	0	0	411	913	32	2	556	2	AHCYL2	7	129019543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167400	129019543	30119120	8858	19175											
FAM40B	57464	broad.mit.edu	37	chr7	129096370	129096370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggctgaagacagtatcCaggtggtgaagagcatgcgt	14	8	0	4	rs139485685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129096370C>A	ENST00000249344.2	+	9	965	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	STRIP2_ENST00000435494.2_Missense_Mutation_p.Q309K	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	309					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGACAGTATCCAGGTGGTGAA	0.587																																						ENST00000249344.2																			0											c.(925-927)Cag>Aag		striatin interacting protein 2							97	90	93					7																	129096370		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129096370C>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.925C>A	7.37:g.129096370C>A	ENSP00000249344:p.Gln309Lys					STRIP2_ENST00000435494.2_Missense_Mutation_p.Q309K	p.Q309K	NM_020704.2	NP_065755.1					9	965	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.925C>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	5.417	0.262103	0.10239	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.41400	1.0;1.0	5.8	5.8	0.92144	.	0.175585	0.50627	D	0.000112	T	0.25901	0.0631	N	0.10664	0.02	0.38957	D	0.95847	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.13899	-1.0492	10	0.13108	T	0.6	-23.293	18.6318	0.91363	0.0:1.0:0.0:0.0	.	309;309	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	K	309	ENSP00000249344:Q309K;ENSP00000392393:Q309K	ENSP00000249344:Q309K	Q	+	1	0	FAM40B	128883606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.758000	0.94735	0.561000	0.74099	CAG		0.587	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		73	443	1	0	1.63007e-36	1	1.95181e-36	73	443					A	129096370	C	A	129096370	3	1	79	1	0	0	0	0	1	0	0	0	5586	595	21	3	959	3	FAM40B	7	129096370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76827	129096370	30042293	8859	19176											
FAM40B	57464	broad.mit.edu	37	chr7	129100202	129100202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggagctggagaagtgcCctatgtctttggtgagccaa	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129100202C>T	ENST00000249344.2	+	13	1505	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	STRIP2_ENST00000435494.2_Missense_Mutation_p.P489S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	489					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GGAGAAGTGCCCTATGTCTTT	0.473																																						ENST00000249344.2																			0											c.(1465-1467)Cct>Tct		striatin interacting protein 2							95	84	88					7																	129100202		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129100202C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1465C>T	7.37:g.129100202C>T	ENSP00000249344:p.Pro489Ser					STRIP2_ENST00000435494.2_Missense_Mutation_p.P489S	p.P489S	NM_020704.2	NP_065755.1					13	1505	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1465C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031588	0.75504	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.49139	0.8;0.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.81179	2.53	0.80722	D	1	D;P	0.89917	1.0;0.799	D;P	0.91635	0.999;0.477	T	0.72218	-0.4357	10	0.45353	T	0.12	-20.921	18.3508	0.90338	0.0:1.0:0.0:0.0	.	489;489	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	S	489;489;160	ENSP00000249344:P489S;ENSP00000392393:P489S	ENSP00000249344:P489S	P	+	1	0	FAM40B	128887438	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.646000	0.67916	2.550000	0.86006	0.591000	0.81541	CCT		0.473	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		21	84	0	0	0	1	0	21	84					T	129100202	C	T	129100202	3	4	79	1	0	0	0	0	1	0	0	0	5586	623	22	2	1515	2	FAM40B	7	129100202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3832	129100202	30038461	8860	19177											
FAM40B	57464	broad.mit.edu	37	chr7	129107205	129107205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagtttgaatatgtatcGcaacatttggtatttgccaa	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129107205G>A	ENST00000249344.2	+	17	1831	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	STRIP2_ENST00000435494.2_Silent_p.S597S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	597					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AATATGTATCGCAACATTTGG	0.353																																						ENST00000249344.2																			0											c.(1789-1791)tcG>tcA		striatin interacting protein 2							105	98	100					7																	129107205		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129107205G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1791G>A	7.37:g.129107205G>A						STRIP2_ENST00000435494.2_Silent_p.S597S	p.S597S	NM_020704.2	NP_065755.1					17	1831	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1791G>A	CCDS34752.1																																																																																				0.353	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		33	156	0	0	0	1	0	33	156					A	129107205	G	A	129107205	2	1	79	1	0	0	0	0	0	0	0	1	5586	1074	38	1		1	FAM40B	7	129107205	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7003	129107205	30031458	8861	19178											
NRF1	4899	broad.mit.edu	37	chr7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtggtgaccagcctcGcccagggcaacggaccagtg	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1399-1401)Gcc>Acc		nuclear respiratory factor 1							99	80	86					7																	129394908		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129394908G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1399G>A	7.37:g.129394908G>A	ENSP00000376924:p.Ala467Thr					NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T	p.A467T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			11	1516	+			467			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1399G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589531	0.46214	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	5.27	0.74061	Nuclear respiratory factor-1, activation binding domain (1);	0.160042	0.56097	D	0.000034	T	0.30448	0.0765	N	0.08118	0	0.47905	D	0.999543	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.14952	-1.0454	9	0.19590	T	0.45	-12.9813	11.3646	0.49664	0.0828:0.0:0.9172:0.0	.	486;467	Q96AN2;Q16656	.;NRF1_HUMAN	T	467;401;306;467;486;467;486	.	ENSP00000223190:A467T	A	+	1	0	NRF1	129182144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.462000	0.83206	0.561000	0.74099	GCC		0.612	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		20	337	0	0	0	1	0	20	337					A	129394908	G	A	129394908	3	1	79	1	0	0	0	0	1	0	0	0	10688	1087	38	1	1437	1	NRF1	7	129394908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287703	129394908	29743755	8862	19179											
ZC3HC1	51530	broad.mit.edu	37	chr7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaaagggcttacctgCccatttcaaagagtatccat	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000358303.4	-	3	355	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	91					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(271-273)Gca>Aca		zinc finger, C3HC-type containing 1							161	158	159					7																	129680929		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129680929C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.271G>A	7.37:g.129680929C>T	ENSP00000351052:p.Ala91Thr					ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T	p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			3	355	-	Melanoma(18;0.0435)		91					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.271G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337788	0.81911	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.43294	1.54;0.99;1.55;0.95	5.8	5.8	0.92144	Zinc finger, C3HC-like (1);	0.412542	0.25695	N	0.028910	T	0.48352	0.1495	L	0.45581	1.43	0.80722	D	1	P	0.48998	0.918	P	0.51297	0.665	T	0.17289	-1.0374	10	0.14656	T	0.56	-5.7662	18.6258	0.91338	0.0:1.0:0.0:0.0	.	91	Q86WB0	NIPA_HUMAN	T	91;91;70;91;91	ENSP00000351052:A91T;ENSP00000353933:A91T;ENSP00000309301:A70T;ENSP00000418533:A91T	ENSP00000309301:A70T	A	-	1	0	ZC3HC1	129468165	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.335000	0.65929	2.730000	0.93505	0.563000	0.77884	GCA		0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		161	611	0	0	0	1	0	161	611					T	129680929	C	T	129680929	3	4	79	1	0	0	0	0	1	0	0	0	17630	739	26	2	1269	2	ZC3HC1	7	129680929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286021	129680929	29457734	8863	19180											
C7orf45	136263	broad.mit.edu	37	chr7	129856189	129856189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctccactgcaaagccttgaGaaccaacgaatggttggcgc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129856189G>T	ENST00000297819.3	+	3	665	c.614G>T	c.(613-615)aGa>aTa	p.R205I		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	205						integral component of membrane (GO:0016021)											AAAGCCTTGAGAACCAACGAA	0.468																																						ENST00000297819.3																			0											c.(613-615)aGa>aTa		serine-rich single-pass membrane protein 1							138	139	139					7																	129856189		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129856189G>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.614G>T	7.37:g.129856189G>T	ENSP00000297819:p.Arg205Ile						p.R205I	NM_145268.3	NP_660311.1					3	665	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.614G>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838696	0.51057	.	.	ENSG00000165120	ENST00000297819	T	0.59772	0.24	5.26	4.38	0.52667	.	0.081025	0.52532	N	0.000066	T	0.56187	0.1968	M	0.69823	2.125	0.45502	D	0.998464	P	0.40731	0.728	B	0.37451	0.25	T	0.63368	-0.6653	10	0.87932	D	0	-22.0352	12.6902	0.56970	0.0:0.0:0.8349:0.1651	.	205	Q8WWF3	CG045_HUMAN	I	205	ENSP00000297819:R205I	ENSP00000297819:R205I	R	+	2	0	C7orf45	129643425	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.376000	0.52417	1.338000	0.45544	0.491000	0.48974	AGA		0.468	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		130	676	1	0	2.94363e-73	1	3.74679e-73	130	676					T	129856189	G	T	129856189	3	4	79	1	0	0	0	0	1	0	0	0	2402	942	33	3	624	3	C7orf45	7	129856189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175260	129856189	29282474	8864	19181											
CPA2	1358	broad.mit.edu	37	chr7	129929527	129929527	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagatcctgcccacagcCgaggagacctggcttggctt	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129929527C>A	ENST00000222481.4	+	11	1255	c.1200C>A	c.(1198-1200)gcC>gcA	p.A400A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	400					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGCCCACAGCCGAGGAGACCT	0.532																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1198-1200)gcC>gcA		carboxypeptidase A2 (pancreatic)							106	100	102					7																	129929527		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929527C>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1200C>A	7.37:g.129929527C>A							p.A400A	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1255	+	Melanoma(18;0.0435)		400					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.1200C>A	CCDS5817.2																																																																																				0.532	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		8	491	1	0	0.00448238	1	0.00451339	8	491					A	129929527	C	A	129929527	2	1	79	1	0	0	0	0	0	0	0	1	3799	639	23	3		3	CPA2	7	129929527	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73338	129929527	29209136	8865	19182											
CPA5	93979	broad.mit.edu	37	chr7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattcagattggcaacaGctttgaaaaccagtccattc	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	168						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(502-504)aGc>aAc		carboxypeptidase A5							96	86	89					7																	130001054		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130001054G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.503G>A	7.37:g.130001054G>A	ENSP00000420237:p.Ser168Asn					CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N	p.S168N			Q8WXQ8	CBPA5_HUMAN			6	1632	+	Melanoma(18;0.0435)		168					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.503G>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010102	0.75046	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.17	5.25	0.73442	Peptidase M14, carboxypeptidase A (3);	0.074008	0.56097	D	0.000021	T	0.70334	0.3212	H	0.98048	4.135	0.32261	N	0.570195	D;D	0.67145	0.996;0.993	D;D	0.68621	0.909;0.959	T	0.83180	-0.0089	9	.	.	.	.	16.7161	0.85397	0.0:0.1395:0.8605:0.0	.	168;168	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	168	ENSP00000347549:S168N;ENSP00000418183:S168N;ENSP00000419025:S168N;ENSP00000420237:S168N;ENSP00000393045:S168N;ENSP00000417314:S168N;ENSP00000376907:S168N	.	S	+	2	0	CPA5	129788290	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.210000	0.58500	2.941000	0.99782	0.655000	0.94253	AGC		0.403	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		42	223	0	0	0	1	0	42	223					A	130001054	G	A	130001054	3	1	79	1	0	0	0	0	1	0	0	0	3802	971	34	2	521	2	CPA5	7	130001054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71527	130001054	29137609	8866	19183											
CPA5	93979	broad.mit.edu	37	chr7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggttctcggcacccaGccatctggattgacactgga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	188						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(562-564)Gcc>Tcc		carboxypeptidase A5							56	51	53					7																	130002306		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130002306G>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.562G>T	7.37:g.130002306G>T	ENSP00000420237:p.Ala188Ser					CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S	p.A188S			Q8WXQ8	CBPA5_HUMAN			7	1691	+	Melanoma(18;0.0435)		188					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.562G>T	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441848	0.96187	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.87	5.87	0.94306	Peptidase M14, carboxypeptidase A (4);	0.088968	0.49305	D	0.000146	T	0.33059	0.0850	M	0.67953	2.075	0.44966	D	0.997988	D;D	0.64830	0.987;0.994	D;D	0.71656	0.969;0.974	T	0.00189	-1.1939	9	.	.	.	.	19.1932	0.93675	0.0:0.0:1.0:0.0	.	188;188	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	188	ENSP00000347549:A188S;ENSP00000418183:A188S;ENSP00000419025:A188S;ENSP00000420237:A188S;ENSP00000393045:A188S;ENSP00000417314:A188S;ENSP00000376907:A188S	.	A	+	1	0	CPA5	129789542	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.346000	0.97056	2.777000	0.95525	0.591000	0.81541	GCC		0.552	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		10	270	1	0	0.000673444	1	0.000681208	10	270					T	130002306	G	T	130002306	3	4	79	1	0	0	0	0	1	0	0	0	3802	971	34	3	584	3	CPA5	7	130002306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1252	130002306	29136357	8867	19184											
CPA1	1357	broad.mit.edu	37	chr7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccttgtcagcaagatccaGattggcaacacctatgaagg	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(439-441)caG>caT		carboxypeptidase A1 (pancreatic)							133	104	114					7																	130022008		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130022008G>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.441G>T	7.37:g.130022008G>T	ENSP00000011292:p.Gln147His					CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	p.Q147H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			4	591	+	Melanoma(18;0.0435)		147					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.441G>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064932	0.20067	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.46	2.23	0.28157	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.08537	0.0212	L	0.37897	1.145	0.35752	D	0.819525	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.005	T	0.12016	-1.0564	10	0.40728	T	0.16	.	8.373	0.32425	0.0889:0.298:0.6131:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	H	59;147;59;59	ENSP00000420218:Q59H;ENSP00000011292:Q147H;ENSP00000419408:Q59H;ENSP00000419497:Q59H	ENSP00000011292:Q147H	Q	+	3	2	CPA1	129809244	1.000000	0.71417	0.990000	0.47175	0.571000	0.35966	2.309000	0.43699	1.296000	0.44742	-0.305000	0.09177	CAG		0.522	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		55	258	1	0	2.23044e-30	1	2.6157e-30	55	258					T	130022008	G	T	130022008	3	4	79	1	0	0	0	0	1	0	0	0	3798	933	33	3	455	3	CPA1	7	130022008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19702	130022008	29116655	8868	19185											
CPA1	1357	broad.mit.edu	37	chr7	130027777	130027777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcctgctgccagcctcccaGatcatccccacagccaagga	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	395					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1183-1185)caG>caA		carboxypeptidase A1 (pancreatic)							214	209	211					7																	130027777		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027777G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1185G>A	7.37:g.130027777G>A						CPA1_ENST00000484324.1_Silent_p.Q307Q	p.Q395Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			10	1335	+	Melanoma(18;0.0435)		395					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1185G>A	CCDS5820.1																																																																																				0.577	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		317	1287	0	0	0	1	0	317	1287					A	130027777	G	A	130027777	2	1	79	1	0	0	0	0	0	0	0	1	3798	933	33	2		2	CPA1	7	130027777	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5769	130027777	29110886	8869	19186											
TSGA14	95681	broad.mit.edu	37	chr7	130067795	130067795	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttctaatctttactcaCcagtgtccagtcttgatttg	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130067795C>T	ENST00000223208.5	-	2	368		c.e2+1		CEP41_ENST00000495702.1_Splice_Site|CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000489512.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TCTTTACTCACCAGTGTCCAG	0.308																																						ENST00000223208.4																			0											c.e2+1		centrosomal protein 41kDa							75	75	75					7																	130067795		2203	4300	6503	SO:0001630	splice_region_variant	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130067795C>T	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.97+1G>A	7.37:g.130067795C>T						CEP41_ENST00000489512.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site|CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000495702.1_Splice_Site		NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			2	368	-								A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Splice_Site	SNP	ENST00000223208.5	37		CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726472	0.69074	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000477003;ENST00000469826;ENST00000489512	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0257	0.71669	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA14	129855031	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.001000	0.57046	2.616000	0.88540	0.591000	0.81541	.		0.308	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	Intron	17	151	0	0	0	1	0	17	151					T	130067795	C	T	130067795	5	4	79	1	0	0	0	0	0	0	1	0	16673	521	18	2	1063	2	TSGA14	7	130067795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40018	130067795	29070868	8870	19187											
KLF14	136259	broad.mit.edu	37	chr7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtggcgggccagctcgtCggaacgcgtaaacttcttgt	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(718-720)Gac>Aac		Kruppel-like factor 14							35	34	35					7																	130418143		2202	4299	6501	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418143C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.718G>A	7.37:g.130418143C>T	ENSP00000310878:p.Asp240Asn						p.D240N	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	745	-	Melanoma(18;0.0435)		240					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.718G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269922	0.95429	.	.	ENSG00000174595	ENST00000310992	T	0.26067	1.76	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003517	T	0.34135	0.0887	N	0.14661	0.345	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.36529	-0.9744	10	0.87932	D	0	.	15.3231	0.74139	0.0:1.0:0.0:0.0	.	240	Q8TD94	KLF14_HUMAN	N	240	ENSP00000310878:D240N	ENSP00000310878:D240N	D	-	1	0	KLF14	130068683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.374000	0.81015	0.561000	0.74099	GAC		0.637	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		14	70	0	0	0	1	0	14	70					T	130418143	C	T	130418143	3	4	79	1	0	0	0	0	1	0	0	0	8372	884	31	1	257	1	KLF14	7	130418143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350348	130418143	28720520	8871	19188											
KLF14	136259	broad.mit.edu	37	chr7	130418358	130418358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgcccctagggcccctCcagagaacccaccagaggct	11	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418358C>T	ENST00000310992.4	-	1	530	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TAGGGCCCCTCCAGAGAACCC	0.761																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(502-504)gGa>gAa		Kruppel-like factor 14							3	4	4					7																	130418358		1864	3796	5660	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418358C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.503G>A	7.37:g.130418358C>T	ENSP00000310878:p.Gly168Glu						p.G168E	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	530	-	Melanoma(18;0.0435)		168					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.503G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	c	0.477	-0.881645	0.02530	.	.	ENSG00000174595	ENST00000310992	T	0.09817	2.94	3.56	-2.17	0.07059	.	.	.	.	.	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.02654	T	1	.	5.1683	0.15098	0.0:0.3054:0.1565:0.538	.	168	Q8TD94	KLF14_HUMAN	E	168	ENSP00000310878:G168E	ENSP00000310878:G168E	G	-	2	0	KLF14	130068898	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.555000	0.05999	-0.670000	0.05282	-0.261000	0.10672	GGA		0.761	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		3	37	0	0	0	1	0	3	37					T	130418358	C	T	130418358	3	4	79	1	0	0	0	0	1	0	0	0	8372	855	30	2	472	2	KLF14	7	130418358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	130418358	28720305	8872	19189											
MKLN1	4289	broad.mit.edu	37	chr7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttactgaggcattgcaaGtacctcataagaaaacacag	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	636					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GGCATTGCAAGTACCTCATAA	0.333																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1906-1908)aaG>aaT		muskelin 1, intracellular mediator containing kelch motifs							91	91	91					7																	131151154		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131151154G>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1908G>T	7.37:g.131151154G>T	ENSP00000323527:p.Lys636Asn					MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	p.K636N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			15	1948	+	Melanoma(18;0.162)		636					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1908G>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068109	0.55539	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.49139	1.79;0.79	5.8	3.81	0.43845	.	0.045341	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71036	2.16	0.58432	D	0.999998	B;P;B;P	0.49090	0.399;0.624;0.314;0.919	B;B;B;P	0.51742	0.209;0.206;0.134;0.678	T	0.53027	-0.8496	10	0.59425	D	0.04	-15.6556	5.1238	0.14875	0.4208:0.0:0.5792:0.0	.	636;613;544;126	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	N	544;636;126	ENSP00000398094:K544N;ENSP00000323527:K636N	ENSP00000323527:K636N	K	+	3	2	MKLN1	130801694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.337000	0.59310	0.721000	0.32231	0.650000	0.86243	AAG		0.333	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		58	286	1	0	4.88482e-21	1	5.49248e-21	58	286					T	131151154	G	T	131151154	3	4	79	1	0	0	0	0	1	0	0	0	9644	1020	36	3	1999	3	MKLN1	7	131151154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	732796	131151154	27987509	8873	19190											
PODXL	5420	broad.mit.edu	37	chr7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggttgtccagagggaCgatccagctgtcccccagct	13	13	1	1	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000378555.3	-	9	1865	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_ENST00000541194.1_Missense_Mutation_p.V542I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I			O00592	PODXL_HUMAN	podocalyxin-like	540					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.0					ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1624-1626)Gtc>Atc		podocalyxin-like		C	ILE/VAL,ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	146	121	129		1618,1522	5.7	1	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	PODXL	NM_001018111.2,NM_005397.3	29,29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging,probably-damaging	540/559,508/527	131189129	7,12999	2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189129C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1618G>A	7.37:g.131189129C>T	ENSP00000367817:p.Val540Ile					PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000378555.3_Missense_Mutation_p.V540I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I	p.V542I	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			9	1881	-	Melanoma(18;0.162)		540					A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1624G>A	CCDS34755.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.8	5.032775	0.93575	0.001589	0.0	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.42086	0.1187	M	0.74881	2.28	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47381	-0.9122	10	0.87932	D	0	-42.4028	12.0939	0.53744	0.0:0.9222:0.0:0.0778	.	508;540	O00592-2;O00592	.;PODXL_HUMAN	I	542;508;498;540;508	ENSP00000440518:V542I;ENSP00000442655:V508I;ENSP00000367817:V540I;ENSP00000319782:V508I	ENSP00000319782:V508I	V	-	1	0	PODXL	130839669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GTC		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		55	282	0	0	0	1	0	55	282					T	131189129	C	T	131189129	3	4	79	1	0	0	0	0	1	0	0	0	12222	536	19	1	62	1	PODXL	7	131189129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37975	131189129	27949534	8874	19191											
PODXL	5420	broad.mit.edu	37	chr7	131189241	131189241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtaaccattctccacTgtctgcagctcctctgttag	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000378555.3	-	9	1753	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_ENST00000541194.1_Silent_p.T504T|PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000322985.9_Silent_p.T470T			O00592	PODXL_HUMAN	podocalyxin-like	502					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1510-1512)acA>acG		podocalyxin-like							160	139	146					7																	131189241		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189241T>C		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1506A>G	7.37:g.131189241T>C						PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000378555.3_Silent_p.T502T|PODXL_ENST00000322985.9_Silent_p.T470T	p.T504T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			9	1769	-	Melanoma(18;0.162)		502					A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.1512A>G	CCDS34755.1																																																																																				0.557	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		75	402	0	0	0	1	0	75	402					C	131189241	T	C	131189241	2	2	79	1	0	0	0	0	0	0	0	1	12222	1567	55	4		4	PODXL	7	131189241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112	131189241	27949422	8875	19192											
PODXL	5420	broad.mit.edu	37	chr7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggctgtatctgtagCcatgatggtgacactggatg	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000378555.3	-	2	416	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_ENST00000541194.1_Missense_Mutation_p.A59T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T			O00592	PODXL_HUMAN	podocalyxin-like	57	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(175-177)Gct>Act		podocalyxin-like							192	190	191					7																	131196124		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196124C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.169G>A	7.37:g.131196124C>T	ENSP00000367817:p.Ala57Thr					PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000378555.3_Missense_Mutation_p.A57T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T	p.A59T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	432	-	Melanoma(18;0.162)		57			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.175G>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687178	0.14973	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.34	-4.67	0.03319	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.13791	-1.0496	9	0.27785	T	0.31	0.3962	4.1262	0.10128	0.0:0.265:0.3281:0.4069	.	57;57	O00592-2;O00592	.;PODXL_HUMAN	T	59;57;47;57;57	ENSP00000440518:A59T;ENSP00000442655:A57T;ENSP00000367817:A57T;ENSP00000319782:A57T	ENSP00000319782:A57T	A	-	1	0	PODXL	130846664	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.318000	0.00514	-1.236000	0.02542	-0.451000	0.05528	GCT		0.512	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		64	368	0	0	0	1	0	64	368					T	131196124	C	T	131196124	3	4	79	1	0	0	0	0	1	0	0	0	12222	739	26	2	1539	2	PODXL	7	131196124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6883	131196124	27942539	8876	19193											
PLXNA4	91584	broad.mit.edu	37	chr7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgctcttccaggtatggCggacgtgcgggtcatgaatg	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4	1735					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5203-5205)cGc>cAc		plexin A4							69	74	72					7																	131829899		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131829899C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5204G>A	7.37:g.131829899C>T	ENSP00000352882:p.Arg1735His					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H	p.R1735H			Q9HCM2	PLXA4_HUMAN			29	6166	-			1735					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5204G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995290	0.74703	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11604	2.76;2.76	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055041	0.64402	D	0.000003	T	0.34308	0.0893	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.06058	-1.0848	10	0.59425	D	0.04	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1735	Q9HCM2	PLXA4_HUMAN	H	1735	ENSP00000323194:R1735H;ENSP00000352882:R1735H	ENSP00000323194:R1735H	R	-	2	0	PLXNA4	131480439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.776000	0.85560	2.426000	0.82243	0.561000	0.74099	CGC		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		34	278	0	0	0	1	0	34	278					T	131829899	C	T	131829899	3	4	79	1	0	0	0	0	1	0	0	0	12164	768	27	1	496	1	PLXNA4	7	131829899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633775	131829899	27308764	8877	19194											
PLXNA4	91584	broad.mit.edu	37	chr7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcctttctccacacGctcctgccggtagcccggga	10	17	2	0	rs369917118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4	1347					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4039-4041)Cgt>Tgt		plexin A4		G	CYS/ARG	0,4404		0,0,2202	48	55	52		4039	5.5	1	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA4	NM_020911.1	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	1347/1895	131853310	1,13003	2202	4300	6502	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853310G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4039C>T	7.37:g.131853310G>A	ENSP00000352882:p.Arg1347Cys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C	p.R1347C			Q9HCM2	PLXA4_HUMAN			22	5001	-			1347					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4039C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392914	0.62066	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12147	2.71;2.71	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050603	0.85682	D	0.000000	T	0.15869	0.0382	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.13407	0.009	T	0.02546	-1.1143	10	0.56958	D	0.05	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1347	Q9HCM2	PLXA4_HUMAN	C	1347	ENSP00000323194:R1347C;ENSP00000352882:R1347C	ENSP00000323194:R1347C	R	-	1	0	PLXNA4	131503850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.333000	0.65917	2.582000	0.87167	0.462000	0.41574	CGT		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		20	231	0	0	0	1	0	20	231					A	131853310	G	A	131853310	3	1	79	1	0	0	0	0	1	0	0	0	12164	1087	38	1	1689	1	PLXNA4	7	131853310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23411	131853310	27285353	8878	19195											
PLXNA4	91584	broad.mit.edu	37	chr7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaatcccggctccatccaGgtcactggtcagctcatgga	11	14	3	0	rs539545375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4	1307					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3919-3921)Ctg>Atg		plexin A4							96	105	102					7																	131859635		2167	4293	6460	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859635G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3919C>A	7.37:g.131859635G>T	ENSP00000352882:p.Leu1307Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M	p.L1307M			Q9HCM2	PLXA4_HUMAN			21	4881	-			1307					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3919C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019699	0.54576	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01295	5.04;5.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.42581	1.335	0.80722	D	1	P	0.51933	0.949	P	0.53401	0.725	T	0.57171	-0.7857	10	0.46703	T	0.11	.	12.8721	0.57970	0.0743:0.0:0.9257:0.0	.	1307	Q9HCM2	PLXA4_HUMAN	M	1307	ENSP00000323194:L1307M;ENSP00000352882:L1307M	ENSP00000323194:L1307M	L	-	1	2	PLXNA4	131510175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.289000	0.43523	2.643000	0.89663	0.655000	0.94253	CTG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		67	483	1	0	3.05759e-45	1	3.74787e-45	67	483					T	131859635	G	T	131859635	3	4	79	1	0	0	0	0	1	0	0	0	12164	991	35	3	1813	3	PLXNA4	7	131859635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6325	131859635	27279028	8879	19196											
PLXNA4	91584	broad.mit.edu	37	chr7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtgcagacatgccGgtatttacaccagtggcagc	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2032-2034)Cgg>Tgg		plexin A4							44	47	46					7																	131908351		2099	4251	6350	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131908351G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2032C>T	7.37:g.131908351G>A	ENSP00000352882:p.Arg678Trp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W	p.R678W			Q9HCM2	PLXA4_HUMAN			9	2994	-			678			PSI 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2032C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	88	0	0	0	1	0	15	88					A	131908351	G	A	131908351	3	1	79	1	0	0	0	0	1	0	0	0	12164	1115	39	1	3748	1	PLXNA4	7	131908351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	131908351	27230312	8880	19197											
PLXNA4	91584	broad.mit.edu	37	chr7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtcctccgtgaagaCgggaattccacgcaccatgt	10	14	0	2	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4	424	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCGTGAAGACGGGAATTCCA	0.502													C|||	6	0.00119808	0.0008	0.0	5008	,	,		20967	0.001		0.004	False		,,,				2504	0.0					ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1270-1272)Gtc>Atc		plexin A4		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	112	92	99		1270,1270,1270	4.3	0.9	7	dbSNP_134	99	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	29,29,29	0,21,6482	TT,TC,CC		0.2209,0.0454,0.1615	benign,benign,benign	424/493,424/1895,424/523	132174152	21,12985	2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132174152C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1270G>A	7.37:g.132174152C>T	ENSP00000352882:p.Val424Ile					PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I	p.V424I			Q9HCM2	PLXA4_HUMAN			3	2232	-			424			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1270G>A	CCDS43646.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	9.939	1.217033	0.22373	4.54E-4	0.002209	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.22	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236540	0.26574	U	0.023617	T	0.06508	0.0167	L	0.45698	1.435	0.40578	D	0.98136	B;B;B	0.15473	0.006;0.013;0.003	B;B;B	0.15870	0.003;0.014;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	.	7.7108	0.28677	0.0:0.8352:0.0:0.1648	.	424;424;424	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	424	ENSP00000323194:V424I;ENSP00000352882:V424I;ENSP00000392772:V424I;ENSP00000367800:V424I	ENSP00000323194:V424I	V	-	1	0	PLXNA4	131824692	0.997000	0.39634	0.949000	0.38748	0.046000	0.14306	2.770000	0.47662	2.712000	0.92718	0.650000	0.86243	GTC		0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		43	172	0	0	0	1	0	43	172					T	132174152	C	T	132174152	3	4	79	1	0	0	0	0	1	0	0	0	12164	536	19	1	4848	1	PLXNA4	7	132174152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265801	132174152	26964511	8881	19198											
PLXNA4	91584	broad.mit.edu	37	chr7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcttgcagatgccttGgtacaggctcccacaggcaa	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(403-405)Caa>Taa		plexin A4							65	60	62					7																	132193050		2203	4300	6503	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193050G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.403C>T	7.37:g.132193050G>A	ENSP00000352882:p.Gln135*					PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*	p.Q135*			Q9HCM2	PLXA4_HUMAN			2	1365	-			135			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.403C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876018	0.97904	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000323194:Q135X	Q	-	1	0	PLXNA4	131843590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	CAA		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		38	223	0	0	0	1	0	38	223					A	132193050	G	A	132193050	4	1	79	1	0	0	0	0	0	1	0	0	12164	1357	47	2	5719	2	PLXNA4	7	132193050	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18898	132193050	26945613	8882	19199											
PLXNA4	91584	broad.mit.edu	37	chr7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtagtctatgaggagcatCttgttgacattgttggtggt	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4	116	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(346-348)aaG>aaT		plexin A4							56	54	55					7																	132193105		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193105C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.348G>T	7.37:g.132193105C>A	ENSP00000352882:p.Lys116Asn					PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N	p.K116N			Q9HCM2	PLXA4_HUMAN			2	1310	-			116			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.348G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963128	0.53507	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000003	T	0.30823	0.0777	M	0.91249	3.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.87932	D	0	.	6.3108	0.21164	0.0:0.6125:0.0:0.3874	.	116;116;116	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	116	ENSP00000323194:K116N;ENSP00000352882:K116N;ENSP00000392772:K116N;ENSP00000367800:K116N	ENSP00000323194:K116N	K	-	3	2	PLXNA4	131843645	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	1.271000	0.44313	0.462000	0.41574	AAG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		50	217	1	0	2.56175e-15	1	2.79687e-15	50	217					A	132193105	C	A	132193105	3	1	79	1	0	0	0	0	1	0	0	0	12164	912	32	3	5774	3	PLXNA4	7	132193105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	132193105	26945558	8883	19200											
CHCHD3	54927	broad.mit.edu	37	chr7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggtgggtgttctcacGgtaacactgaagaattttgg	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	195	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517																																						ENST00000262570.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(583-585)Cgt>Tgt		coiled-coil-helix-coiled-coil-helix domain containing 3							143	120	128					7																	132481280		2203	4300	6503	SO:0001583	missense	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132481280G>A	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.583C>T	7.37:g.132481280G>A	ENSP00000262570:p.Arg195Cys					CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	p.R195C	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN			7	727	-			195			CHCH.			Missense_Mutation	SNP	ENST00000262570.5	37	c.583C>T	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852934	0.32699	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.52057	0.69;0.68	5.81	5.81	0.92471	.	0.141061	0.64402	D	0.000004	T	0.60090	0.2242	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.011	P;B	0.54706	0.759;0.004	T	0.58945	-0.7546	10	0.52906	T	0.07	-7.3234	19.6745	0.95926	0.0:0.0:1.0:0.0	.	200;195	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	C	195;200	ENSP00000262570:R195C;ENSP00000389297:R200C	ENSP00000262570:R195C	R	-	1	0	CHCHD3	132131820	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.800000	0.75165	2.747000	0.94245	0.650000	0.86243	CGT		0.517	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		51	235	0	0	0	1	0	51	235					A	132481280	G	A	132481280	3	1	79	1	0	0	0	0	1	0	0	0	3326	1116	39	1	108	1	CHCHD3	7	132481280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288175	132481280	26657383	8884	19201											
EXOC4	60412	broad.mit.edu	37	chr7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccagagcatcacagagcGcatcactaactcccgaaata	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCACAGAGCGCATCACTAAC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(244-246)cGc>cAc		exocyst complex component 4							112	101	105					7																	132959895		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132959895G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.245G>A	7.37:g.132959895G>A	ENSP00000253861:p.Arg82His					EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H|EXOC4_ENST00000539845.1_5'UTR	p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			2	274	+		Esophageal squamous(399;0.129)	82					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.245G>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148632	0.94603	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.945;0.973	T	0.59322	-0.7476	9	0.22109	T	0.4	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	82;82	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	82	.	ENSP00000253861:R82H	R	+	2	0	EXOC4	132610435	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.360000	0.97119	2.579000	0.87056	0.650000	0.86243	CGC		0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		39	217	0	0	0	1	0	39	217					A	132959895	G	A	132959895	3	1	79	1	0	0	0	0	1	0	0	0	5324	1087	38	1	251	1	EXOC4	7	132959895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478615	132959895	26178768	8885	19202											
LRGUK	136332	broad.mit.edu	37	chr7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattatacaactttagaagaActctggaaaagttttgatct	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	710						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTTAGAAGAACTCTGGAAAA	0.368																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2128-2130)gaA>gaC		leucine-rich repeats and guanylate kinase domain containing							79	81	81					7																	133933760		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133933760A>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2130A>C	7.37:g.133933760A>C	ENSP00000285928:p.Glu710Asp						p.E710D	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			18	2199	+			710					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2130A>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865667	0.17250	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	3.27	-4.44	0.03557	.	0.311846	0.27754	N	0.018000	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05903	-1.0857	10	0.48119	T	0.1	-11.3641	1.0572	0.01592	0.304:0.1769:0.346:0.1732	.	710	Q96M69	LRGUK_HUMAN	D	710	ENSP00000285928:E710D	ENSP00000285928:E710D	E	+	3	2	LRGUK	133584300	0.043000	0.20138	0.001000	0.08648	0.023000	0.10783	0.036000	0.13819	-0.943000	0.03691	-0.263000	0.10527	GAA		0.368	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		67	232	0	0	0	1	0	67	232					C	133933760	A	C	133933760	3	2	79	1	0	0	0	0	1	0	0	0	8981	40	2	4	2200	4	LRGUK	7	133933760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973865	133933760	25204903	8886	19203											
SLC35B4	84912	broad.mit.edu	37	chr7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggtcaccattatggCatagtacctgaaatgcagac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	67					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388																																						ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.(199-201)Gcc>Acc		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							112	87	96					7																	133991519		2203	4300	6503	SO:0001583	missense	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133991519C>T	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"Solute carriers"	20584	protein-coding gene	gene with protein product		610923	"solute carrier family 35, member B4"				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.199G>A	7.37:g.133991519C>T	ENSP00000367770:p.Ala67Thr						p.A67T	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN			3	498	-			67					A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	c.199G>A	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040817	0.35989	.	.	ENSG00000205060	ENST00000378509	T	0.70516	-0.49	5.5	4.61	0.57282	.	0.408445	0.27035	N	0.021249	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.32534	-0.9903	10	0.22706	T	0.39	-10.5705	5.4046	0.16314	0.1271:0.5738:0.223:0.0761	.	67;67	Q969S0-2;Q969S0	.;S35B4_HUMAN	T	67	ENSP00000367770:A67T	ENSP00000367770:A67T	A	-	1	0	SLC35B4	133642059	0.104000	0.21937	0.076000	0.20297	0.850000	0.48378	0.726000	0.25984	1.445000	0.47624	0.563000	0.77884	GCC		0.388	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		28	133	0	0	0	1	0	28	133					T	133991519	C	T	133991519	3	4	79	1	0	0	0	0	1	0	0	0	14628	710	25	2	828	2	SLC35B4	7	133991519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57759	133991519	25147144	8887	19204											
AKR1B1	231	broad.mit.edu	37	chr7	134133231	134133231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttctcctgagtgagataTgggtggcactcaatctgcaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	189					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532																																						ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(565-567)ccA>ccG		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)						103	96	98					7																	134133231		2203	4300	6503	SO:0001819	synonymous_variant	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134133231T>C	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.567A>G	7.37:g.134133231T>C							p.P189P	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			6	646	-			189					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	c.567A>G	CCDS5831.1																																																																																				0.532	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		15	175	0	0	0	1	0	15	175					C	134133231	T	C	134133231	2	2	79	1	0	0	0	0	0	0	0	1	466	1451	51	4		4	AKR1B1	7	134133231	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141712	134133231	25005432	8888	19205											
AKR1B1	231	broad.mit.edu	37	chr7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttgggggatgtttacctgGttaactgcaggcttatactt	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	183					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488																																						ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(547-549)aaC>aaA		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)						208	190	196					7																	134133752		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134133752G>T	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.549C>A	7.37:g.134133752G>T	ENSP00000285930:p.Asn183Lys						p.N183K	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			5	628	-			183					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.549C>A	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869956	0.72065	.	.	ENSG00000085662	ENST00000285930	T	0.26810	1.71	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.133468	0.64402	D	0.000003	T	0.66761	0.2822	H	0.98646	4.29	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.79364	-0.1834	10	0.87932	D	0	.	13.5061	0.61485	0.0775:0.0:0.9225:0.0	.	183	P15121	ALDR_HUMAN	K	183	ENSP00000285930:N183K	ENSP00000285930:N183K	N	-	3	2	AKR1B1	133784292	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.956000	0.29202	2.608000	0.88229	0.561000	0.74099	AAC		0.488	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		136	597	1	0	3.29933e-67	1	4.178e-67	136	597					T	134133752	G	T	134133752	3	4	79	1	0	0	0	0	1	0	0	0	466	1252	44	3	425	3	AKR1B1	7	134133752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	521	134133752	25004911	8889	19206											
AKR1B15	441282	broad.mit.edu	37	chr7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccattgatgcagaatatcGccacattgactgtgcctatt	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(205-207)cGc>cAc		aldo-keto reductase family 1, member B15							103	106	105					7																	134252965		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134252965G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.206G>A	7.37:g.134252965G>A	ENSP00000389289:p.Arg69His					AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	p.R69H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			4	466	+			69					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.206G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732917	0.30684	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28255	1.62;1.62	2.96	1.07	0.20283	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34279	0.0892	M	0.87758	2.905	0.44754	D	0.99775	B;B;B	0.30281	0.078;0.275;0.058	B;B;B	0.26517	0.013;0.07;0.021	T	0.16129	-1.0413	9	0.62326	D	0.03	.	6.9252	0.24412	0.2502:0.0:0.7498:0.0	.	41;69;41	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	H	69;41	ENSP00000389289:R69H;ENSP00000397009:R41H	ENSP00000397009:R41H	R	+	2	0	AKR1B15	133903505	0.975000	0.34042	0.031000	0.17742	0.060000	0.15804	4.974000	0.63771	0.114000	0.18032	-0.358000	0.07595	CGC		0.443	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			85	353	0	0	0	1	0	85	353					A	134252965	G	A	134252965	3	1	79	1	0	0	0	0	1	0	0	0	468	1087	38	1	212	1	AKR1B15	7	134252965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119213	134252965	24885698	8890	19207											
BPGM	669	broad.mit.edu	37	chr7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgagcgtcactatggggCcttgatcggtctcaacaggg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	94					carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532																																						ENST00000393132.2																			0				breast(1)|endometrium(1)|lung(2)|stomach(1)	5						c.(280-282)gCc>gTc		2,3-bisphosphoglycerate mutase							73	68	70					7																	134346540		2203	4300	6503	SO:0001583	missense	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346540C>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.281C>T	7.37:g.134346540C>T	ENSP00000376840:p.Ala94Val					BPGM_ENST00000344924.3_Missense_Mutation_p.A94V|BPGM_ENST00000418040.1_Missense_Mutation_p.A94V	p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN			3	770	+			94					A4D1N9	Missense_Mutation	SNP	ENST00000393132.2	37	c.281C>T	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118106	0.94385	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.090205	0.85682	D	0.000000	T	0.79975	0.4539	M	0.63169	1.94	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	T	0.82727	-0.0314	10	0.87932	D	0	-9.1969	17.3607	0.87349	0.0:0.875:0.125:0.0	.	94	P07738	PMGE_HUMAN	V	94	ENSP00000342032:A94V;ENSP00000399838:A94V;ENSP00000376840:A94V	ENSP00000342032:A94V	A	+	2	0	BPGM	133997080	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.092000	0.71414	1.543000	0.49345	0.650000	0.86243	GCC		0.532	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724		37	188	0	0	0	1	0	37	188					T	134346540	C	T	134346540	3	4	79	1	0	0	0	0	1	0	0	0	1492	739	26	2	283	2	BPGM	7	134346540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93575	134346540	24792123	8891	19208											
CALD1	800	broad.mit.edu	37	chr7	134618572	134618572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataaaggaggaagagaaaaGggcagcagaggagaggcaga	18	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	ENST00000361675.2	+	5	1281	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	351	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaagagaaaagggcagcagag	0.532																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1051-1053)aGg>aTg		caldesmon 1							111	131	124					7																	134618572		2197	4295	6492	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618572G>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1052G>T	7.37:g.134618572G>T	ENSP00000354826:p.Arg351Met					CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron	p.R351M			Q05682	CALD1_HUMAN			5	1281	+			351			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1052G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259906	0.10239	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	3.1	1.14	0.20703	.	0.667275	0.11937	N	0.515172	T	0.44871	0.1314	L	0.40543	1.245	0.31670	N	0.644534	D	0.60575	0.988	P	0.58660	0.843	T	0.49103	-0.8974	9	.	.	.	.	6.6147	0.22771	0.3535:0.0:0.6465:0.0	.	351	Q05682	CALD1_HUMAN	M	351	ENSP00000354826:R351M	.	R	+	2	0	CALD1	134269112	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	-0.082000	0.11304	0.259000	0.21709	0.462000	0.41574	AGG		0.532	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		10	54	1	0	1.76689e-08	1	1.84553e-08	10	54					T	134618572	G	T	134618572	3	4	79	1	0	0	0	0	1	0	0	0	2588	1000	35	3	1119	3	CALD1	7	134618572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272032	134618572	24520091	8892	19209											
CALD1	800	broad.mit.edu	37	chr7	134635161	134635161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggaagagattgaaaggCgaagagcagaagctgctgag	15	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	ENST00000361675.2	+	9	2060	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*|CALD1_ENST00000361388.2_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*			Q05682	CALD1_HUMAN	caldesmon 1	611	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTGAAAGGCGAAGAGCAGA	0.453																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1144-1146)Cga>Tga		caldesmon 1							86	85	85					7																	134635161		2203	4300	6503	SO:0001587	stop_gained	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635161C>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1831C>T	7.37:g.134635161C>T	ENSP00000354826:p.Arg611*					CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000361675.2_Nonsense_Mutation_p.R611*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*	p.R382*	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			9	1610	+			611					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Nonsense_Mutation	SNP	ENST00000361675.2	37	c.1144C>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976056	0.99023	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	.	.	.	5.52	4.55	0.56014	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6252	13.0117	0.58735	0.548:0.452:0.0:0.0	.	.	.	.	X	356;356;382;382;611;356;376;350;376;361	.	ENSP00000355000:R382X	R	+	1	2	CALD1	134285701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.780000	0.62382	1.103000	0.41568	0.655000	0.94253	CGA		0.453	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		12	244	0	0	0	1	0	12	244					T	134635161	C	T	134635161	4	4	79	1	0	0	0	0	0	1	0	0	2588	760	27	1	1914	1	CALD1	7	134635161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16589	134635161	24503502	8893	19210											
TMEM140	55281	broad.mit.edu	37	chr7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcatctgcctgatgtTttacgctcttctctgggagg	12	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	29			F -> L (in dbSNP:rs292501). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(85-87)tTt>tCt		transmembrane protein 140							165	144	151					7																	134849279		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849279T>C	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.86T>C	7.37:g.134849279T>C	ENSP00000275767:p.Phe29Ser					C7orf49_ENST00000459937.1_Intron	p.F29S	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	309	+			29		F -> L (in dbSNP:rs292501).			A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.86T>C	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064210	0.20067	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	4.5	0.54988	.	0.413393	0.23396	N	0.048631	T	0.17662	0.0424	L	0.53249	1.67	0.25660	N	0.98601	B	0.28783	0.222	B	0.30251	0.113	T	0.13308	-1.0514	10	0.40728	T	0.16	-26.4586	9.709	0.40233	0.0:0.0809:0.0:0.9191	.	29	Q9NV12	TM140_HUMAN	S	29	ENSP00000275767:F29S	ENSP00000275767:F29S	F	+	2	0	TMEM140	134499819	0.225000	0.23685	0.963000	0.40424	0.010000	0.07245	1.083000	0.30815	0.940000	0.37473	0.460000	0.39030	TTT		0.562	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		138	571	0	0	0	1	0	138	571					C	134849279	T	C	134849279	3	2	79	1	0	0	0	0	1	0	0	0	16107	1841	64	4	88	4	TMEM140	7	134849279	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214118	134849279	24289384	8894	19211											
STRA8	346673	broad.mit.edu	37	chr7	134927583	134927583	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccagaactggagcaaacCctggataatttgctgaagct	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458																																						ENST00000275764.3																			1	Substitution - coding silent(1)	p.T103T(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(307-309)acC>acA		stimulated by retinoic acid 8							117	115	116					7																	134927583		2203	4300	6503	SO:0001819	synonymous_variant	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134927583C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.309C>A	7.37:g.134927583C>A							p.T103T	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			3	309	+			103						Silent	SNP	ENST00000275764.3	37	c.309C>A	CCDS5839.1																																																																																				0.458	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		43	401	1	0	2.65591e-33	1	3.14676e-33	43	401					A	134927583	C	A	134927583	2	1	79	1	0	0	0	0	0	0	0	1	15375	610	22	3		3	STRA8	7	134927583	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78304	134927583	24211080	8895	19212											
STRA8	346673	broad.mit.edu	37	chr7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgggcatgcaagcagCttagaggaggtcaagaaaga	15	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGCAAGCAGCTTAGAGGAGG	0.502																																						ENST00000275764.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(367-369)agC>agA		stimulated by retinoic acid 8							111	99	103					7																	134928112		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134928112C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.369C>A	7.37:g.134928112C>A	ENSP00000275764:p.Ser123Arg						p.S123R	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			4	369	+			123						Missense_Mutation	SNP	ENST00000275764.3	37	c.369C>A	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854274	0.51270	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	3.14	0.36123	.	0.534314	0.19603	N	0.110330	T	0.54532	0.1864	M	0.62723	1.935	0.18873	N	0.999987	D	0.61080	0.989	P	0.58873	0.847	T	0.46414	-0.9193	9	0.72032	D	0.01	-17.1714	11.4153	0.49949	0.0:0.7779:0.0:0.2221	.	123	Q7Z7C7	STRA8_HUMAN	R	123	.	ENSP00000275764:S123R	S	+	3	2	STRA8	134578652	0.954000	0.32549	0.967000	0.41034	0.850000	0.48378	2.540000	0.45727	1.240000	0.43803	-0.253000	0.11424	AGC		0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		10	240	1	0	0.000673444	1	0.000681208	10	240					A	134928112	C	A	134928112	3	1	79	1	0	0	0	0	1	0	0	0	15375	796	28	3	383	3	STRA8	7	134928112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	134928112	24210551	8896	19213											
CNOT4	4850	broad.mit.edu	37	chr7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttggtcttgaacggacAgttccttctcaatcaggtct	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000315544.5	-	10	1547	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000428680.2_Missense_Mutation_p.L420P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	423					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1258-1260)cTg>cCg		CCR4-NOT transcription complex, subunit 4							134	135	135					7																	135079029		1979	4154	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135079029A>G	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1268T>C	7.37:g.135079029A>G	ENSP00000326731:p.Leu423Pro					CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000315544.5_Missense_Mutation_p.L423P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P	p.L420P	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1538	-			423					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1259T>C	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105960	0.77096	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.997;0.997;0.997	D;D;D;D;D;D	0.78314	0.942;0.974;0.979;0.991;0.991;0.991	T	0.58487	-0.7628	10	0.31617	T	0.26	-6.5092	15.5295	0.75942	1.0:0.0:0.0:0.0	.	420;423;423;420;423;420	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	423;420;423;423;420;420;423	ENSP00000445508:L423P;ENSP00000388491:L420P;ENSP00000406777:L423P;ENSP00000354673:L420P;ENSP00000399108:L420P;ENSP00000326731:L423P	ENSP00000262563:L423P	L	-	2	0	CNOT4	134729569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	CTG		0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		81	393	0	0	0	1	0	81	393					G	135079029	A	G	135079029	3	3	79	1	0	0	0	0	1	0	0	0	3630	188	7	4	773	4	CNOT4	7	135079029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150917	135079029	24059634	8897	19214											
CNOT4	4850	broad.mit.edu	37	chr7	135080489	135080489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggatagggttgggatgGcgaaaattgtctgagaataa	15	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000315544.5	-	9	1305	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000428680.2_Silent_p.R339R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	342					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1015-1017)cgC>cgT		CCR4-NOT transcription complex, subunit 4							182	182	182					7																	135080489		1987	4151	6138	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080489G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1026C>T	7.37:g.135080489G>A						CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000315544.5_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R	p.R339R	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			9	1296	-			342					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1017C>T	CCDS55166.1																																																																																				0.527	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		74	303	0	0	0	1	0	74	303					A	135080489	G	A	135080489	2	1	79	1	0	0	0	0	0	0	0	1	3630	1190	42	2		2	CNOT4	7	135080489	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1460	135080489	24058174	8898	19215											
CNOT4	4850	broad.mit.edu	37	chr7	135095279	135095279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacgtatcatacctctgCagtggtgtcactttgttctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000315544.5	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000428680.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	269					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(805-807)ctG>ctA		CCR4-NOT transcription complex, subunit 4							128	127	128					7																	135095279		1867	4094	5961	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135095279C>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.807G>A	7.37:g.135095279C>T						CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000315544.5_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L	p.L269L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			7	1086	-			269					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.807G>A	CCDS55166.1																																																																																				0.318	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		55	343	0	0	0	1	0	55	343					T	135095279	C	T	135095279	2	4	79	1	0	0	0	0	0	0	0	1	3630	697	25	2		2	CNOT4	7	135095279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14790	135095279	24043384	8899	19216											
NUP205	23165	broad.mit.edu	37	chr7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggcagtgaaaaacatcGcaaagaggcaagggttcaat	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	214					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(640-642)cGc>cAc		nucleoporin 205kDa							105	101	102					7																	135261869		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135261869G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.641G>A	7.37:g.135261869G>A	ENSP00000285968:p.Arg214His					NUP205_ENST00000440390.2_Intron	p.R214H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			5	667	+			214					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.641G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421505	0.83559	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15321	-1.0441	10	0.29301	T	0.29	-15.0997	19.6316	0.95708	0.0:0.0:1.0:0.0	.	214	Q92621	NU205_HUMAN	H	214	ENSP00000285968:R214H	ENSP00000285968:R214H	R	+	2	0	NUP205	134912409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGC		0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			18	338	0	0	0	1	0	18	338					A	135261869	G	A	135261869	3	1	79	1	0	0	0	0	1	0	0	0	10801	1087	38	1	659	1	NUP205	7	135261869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166590	135261869	23876794	8900	19217											
NUP205	23165	broad.mit.edu	37	chr7	135279294	135279294	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttttgtgtcaattcttaGagtgaaaatgctcgcttggc	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.e13-1		nucleoporin 205kDa							81	84	83					7																	135279294		2203	4300	6503	SO:0001630	splice_region_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135279294G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1831-1G>T	7.37:g.135279294G>T						NUP205_ENST00000440390.2_Intron		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			13	1856	+								A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37		CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189076	0.57909	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0836	0.93192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134929834	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	.		0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Intron	73	304	1	0	2.18329e-32	1	2.57781e-32	73	304					T	135279294	G	T	135279294	5	4	79	1	0	0	0	0	0	0	1	0	10801	956	33	3	1880	3	NUP205	7	135279294	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17425	135279294	23859369	8901	19218											
NUP205	23165	broad.mit.edu	37	chr7	135285644	135285644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgaggtggttttggaGgtgttttataaattgctcag	14	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	767					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2299-2301)gaG>gaA		nucleoporin 205kDa							155	152	153					7																	135285644		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135285644G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2301G>A	7.37:g.135285644G>A						NUP205_ENST00000440390.2_3'UTR	p.E767E	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			16	2327	+			767					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2301G>A	CCDS34759.1																																																																																				0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			51	310	0	0	0	1	0	51	310					A	135285644	G	A	135285644	2	1	79	1	0	0	0	0	0	0	0	1	10801	991	35	2		2	NUP205	7	135285644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6350	135285644	23853019	8902	19219											
NUP205	23165	broad.mit.edu	37	chr7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacatcttggagaaaggaaCggaagggagaacaggcccag	14	7	1	2	rs540996642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3130-3132)aCg>aTg		nucleoporin 205kDa							99	94	96					7																	135292055		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135292055C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met						p.T1044M	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			22	3157	+			1044					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3131C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			33	323	0	0	0	1	0	33	323					T	135292055	C	T	135292055	3	4	79	1	0	0	0	0	1	0	0	0	10801	536	19	1	3217	1	NUP205	7	135292055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6411	135292055	23846608	8903	19220											
SLC13A4	26266	broad.mit.edu	37	chr7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattctttttcccaaagCagggcttcttcgctggaatg	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	433					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCCCAAAGCAGGGCTTCTT	0.458																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1297-1299)tGc>tAc		solute carrier family 13 (sodium/sulfate symporter), member 4							76	74	75					7																	135376316		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376316C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1298G>A	7.37:g.135376316C>T	ENSP00000297282:p.Cys433Tyr					C7orf73_ENST00000422968.1_Intron	p.C433Y	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			12	1987	-			433					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1298G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073514	0.55646	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.69	4.8	0.61643	.	0.065014	0.64402	D	0.000004	T	0.54303	0.1850	L	0.27053	0.805	0.49051	D	0.999741	P;P	0.46395	0.877;0.714	P;B	0.45232	0.474;0.34	T	0.52193	-0.8608	10	0.07175	T	0.84	-19.8065	14.4043	0.67071	0.0:0.8512:0.1488:0.0	.	302;433	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	433	ENSP00000297282:C433Y	ENSP00000297282:C433Y	C	-	2	0	SLC13A4	135026856	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.887000	0.56197	1.382000	0.46385	0.655000	0.94253	TGC		0.458	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		35	169	0	0	0	1	0	35	169					T	135376316	C	T	135376316	3	4	79	1	0	0	0	0	1	0	0	0	14444	710	25	2	602	2	SLC13A4	7	135376316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84261	135376316	23762347	8904	19221											
CHRM2	1129	broad.mit.edu	37	chr7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctagccctggactatgtgGtcagcaatgcctcagttatg	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	106	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACTATGTGGTCAGCAATGC	0.478																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(316-318)Gtc>Atc		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						171	162	165					7																	136699928		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699928G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.316G>A	7.37:g.136699928G>A	ENSP00000399745:p.Val106Ile					CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|AC009264.1_ENST00000597642.1_RNA	p.V106I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	844	+			106					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.316G>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392604	0.83011	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.058614	0.64402	D	0.000002	T	0.29817	0.0745	L	0.56340	1.77	0.80722	D	1	P	0.41420	0.749	P	0.45712	0.491	T	0.01349	-1.1378	10	0.17369	T	0.5	-4.778	19.7047	0.96068	0.0:0.0:1.0:0.0	.	106	P08172	ACM2_HUMAN	I	106	ENSP00000399745:V106I;ENSP00000415386:V106I;ENSP00000319984:V106I;ENSP00000380733:V106I;ENSP00000384937:V106I;ENSP00000384401:V106I	ENSP00000319984:V106I	V	+	1	0	CHRM2	136350468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GTC		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			117	556	0	0	0	1	0	117	556					A	136699928	G	A	136699928	3	1	79	1	0	0	0	0	1	0	0	0	3386	1261	44	2	318	2	CHRM2	7	136699928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1323612	136699928	22438735	8905	19222											
CHRM2	1129	broad.mit.edu	37	chr7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttttttccaatgctgCtgtcacctttggtacggcta	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	185					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCAATGCTGCTGTCACCTTT	0.483																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(553-555)gCt>gAt		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						99	89	93					7																	136700166		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700166C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.554C>A	7.37:g.136700166C>A	ENSP00000399745:p.Ala185Asp					CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|AC009264.1_ENST00000597642.1_RNA	p.A185D	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1082	+			185					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.554C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495260	0.64186	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.59220	-0.7495	10	0.32370	T	0.25	-22.3117	19.4315	0.94772	0.0:1.0:0.0:0.0	.	185	P08172	ACM2_HUMAN	D	185	ENSP00000399745:A185D;ENSP00000415386:A185D;ENSP00000319984:A185D;ENSP00000380733:A185D;ENSP00000384937:A185D;ENSP00000384401:A185D	ENSP00000319984:A185D	A	+	2	0	CHRM2	136350706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.600000	0.87896	0.655000	0.94253	GCT		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			80	388	1	0	1.82278e-21	1	2.0542e-21	80	388					A	136700166	C	A	136700166	3	1	79	1	0	0	0	0	1	0	0	0	3386	797	28	3	556	3	CHRM2	7	136700166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	136700166	22438497	8906	19223											
CHRM2	1129	broad.mit.edu	37	chr7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacagtttccacttccCtgggccattccaaagatgag	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTCCACTTCCCTGGGCCATTC	0.463																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(934-936)Ctg>Atg		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						90	92	91					7																	136700546		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700546C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.934C>A	7.37:g.136700546C>A	ENSP00000399745:p.Leu312Met					CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|AC009264.1_ENST00000597642.1_RNA	p.L312M	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1462	+			312					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.934C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704479	0.15172	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.571088	0.16953	N	0.192800	T	0.48021	0.1477	N	0.24115	0.695	0.23144	N	0.998226	P	0.38195	0.622	P	0.44359	0.447	T	0.37619	-0.9698	10	0.41790	T	0.15	-4.2629	5.6681	0.17707	0.0:0.5294:0.1257:0.3449	.	312	P08172	ACM2_HUMAN	M	312	ENSP00000399745:L312M;ENSP00000415386:L312M;ENSP00000319984:L312M;ENSP00000380733:L312M;ENSP00000384937:L312M;ENSP00000384401:L312M	ENSP00000319984:L312M	L	+	1	2	CHRM2	136351086	0.410000	0.25376	0.958000	0.39756	0.990000	0.78478	0.015000	0.13355	-0.191000	0.10448	0.655000	0.94253	CTG		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			72	329	1	0	2.23399e-28	1	2.59905e-28	72	329					A	136700546	C	A	136700546	3	1	79	1	0	0	0	0	1	0	0	0	3386	680	24	3	936	3	CHRM2	7	136700546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	136700546	22438117	8907	19224											
CHRM2	1129	broad.mit.edu	37	chr7	136700899	136700899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattggttactggctttgTtacatcaacagcactatcaa	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C429C|CHRM2_ENST00000320658.5_Silent_p.C429C|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	429	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACTGGCTTTGTTACATCAACA	0.438																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1285-1287)tgT>tgC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						263	218	233					7																	136700899		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700899T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1287T>C	7.37:g.136700899T>C						CHRM2_ENST00000453373.1_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|CHRM2_ENST00000397608.3_Silent_p.C429C|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|AC009264.1_ENST00000597642.1_RNA	p.C429C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1815	+			429					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1287T>C	CCDS5843.1																																																																																				0.438	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			108	502	0	0	0	1	0	108	502					C	136700899	T	C	136700899	2	2	79	1	0	0	0	0	0	0	0	1	3386	1731	60	4		4	CHRM2	7	136700899	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353	136700899	22437764	8908	19225											
DGKI	9162	broad.mit.edu	37	chr7	137154342	137154342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctgtgctgagagagcCctggggaaggaggtttcatg	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000288490.5	-	25	2451	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000453654.2_Silent_p.R517R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	817					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAGAGAGCCCTGGGGAAGG	0.532																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1549-1551)agG>agA		diacylglycerol kinase, iota							132	118	123					7																	137154342		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137154342C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2451G>A	7.37:g.137154342C>T						DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000288490.5_Silent_p.R817R|DGKI_ENST00000446122.1_Silent_p.R799R	p.R517R			O75912	DGKI_HUMAN			25	2090	-			817					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1551G>A	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		39	268	0	0	0	1	0	39	268					T	137154342	C	T	137154342	2	4	79	1	0	0	0	0	0	0	0	1	4487	622	22	2		2	DGKI	7	137154342	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453443	137154342	21984321	8909	19226											
DGKI	9162	broad.mit.edu	37	chr7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactctctaaccttacataCgccatcttcaagttcttctg	3	13	5	0	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000288490.5	-	14	1555	c.1555G>A	c.(1555-1557)Gta>Ata	p.V519I	DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000453654.2_Missense_Mutation_p.V219I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	519					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTTACATACGCCATCTTCA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.0					ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(655-657)Gta>Ata		diacylglycerol kinase, iota							138	131	133					7																	137269963		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137269963C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1555G>A	7.37:g.137269963C>T	ENSP00000288490:p.Val519Ile					DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000288490.5_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I	p.V219I			O75912	DGKI_HUMAN			14	1194	-			519					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.655G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927886	0.52759	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	6.07	6.07	0.98685	.	0.403557	0.24417	N	0.038709	T	0.26085	0.0636	N	0.14661	0.345	0.27813	N	0.942071	B;B	0.26318	0.004;0.146	B;B	0.12156	0.004;0.007	T	0.12218	-1.0556	10	0.35671	T	0.21	.	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	219;519	E9PFX6;O75912	.;DGKI_HUMAN	I	219;467;519;519;519	ENSP00000392161:V219I;ENSP00000288490:V519I;ENSP00000399131:V519I	ENSP00000288490:V519I	V	-	1	0	DGKI	136920503	0.983000	0.35010	0.997000	0.53966	0.995000	0.86356	1.830000	0.39131	2.885000	0.99019	0.655000	0.94253	GTA		0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		84	425	0	0	0	1	0	84	425					T	137269963	C	T	137269963	3	4	79	1	0	0	0	0	1	0	0	0	4487	536	19	1	1726	1	DGKI	7	137269963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115621	137269963	21868700	8910	19227											
DGKI	9162	broad.mit.edu	37	chr7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtggaaggagaacttTtgctggaagccctgggatat	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000288490.5	-	7	816	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	272					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGAACTTTTGCTGGAAGC	0.443																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(814-816)caA>caC		diacylglycerol kinase, iota							172	166	168					7																	137308289		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137308289T>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.816A>C	7.37:g.137308289T>G	ENSP00000288490:p.Gln272His					DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.Q272H|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H	p.Q272H			O75912	DGKI_HUMAN			7	1045	-			272					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.816A>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848968	0.71603	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.36520	1.25;1.44	5.76	-1.13	0.09775	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.49640	1.575	0.54753	D	0.999988	P	0.45078	0.85	P	0.55391	0.775	T	0.23440	-1.0188	10	0.33141	T	0.24	.	12.5935	0.56454	0.0:0.6635:0.0:0.3365	.	272	O75912	DGKI_HUMAN	H	220;272;272;272	ENSP00000288490:Q272H;ENSP00000399131:Q272H	ENSP00000288490:Q272H	Q	-	3	2	DGKI	136958829	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.934000	0.28910	-0.128000	0.11641	0.533000	0.62120	CAA		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		107	489	0	0	0	1	0	107	489					G	137308289	T	G	137308289	3	3	79	1	0	0	0	0	1	0	0	0	4487	1838	64	4	2493	4	DGKI	7	137308289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38326	137308289	21830374	8911	19228											
CREB3L2	64764	broad.mit.edu	37	chr7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcccctccagtttggCgctgaccctgtgaaggcatt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1495-1497)Gcc>Acc		cAMP responsive element binding protein 3-like 2							124	97	106					7																	137565290		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.chr7:137565290C>T	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.1495G>A	7.37:g.137565290C>T	ENSP00000329140:p.Ala499Thr						p.A499T	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			12	1846	-			499					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1495G>A	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	CREB3L2	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC		0.458	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		19	90	0	0	0	1	0	19	90					T	137565290	C	T	137565290	3	4	79	1	0	0	0	0	1	0	0	0	3866	768	27	1	71	1	CREB3L2	7	137565290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257001	137565290	21573373	8912	19229											
CREB3L2	64764	broad.mit.edu	37	chr7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtggcagaaggataggGcccgtagccttgaaagaagc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	400					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1198-1200)Ccc>Tcc		cAMP responsive element binding protein 3-like 2							81	73	76					7																	137569813		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.chr7:137569813G>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.1198C>T	7.37:g.137569813G>A	ENSP00000329140:p.Pro400Ser					CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1549	-			400					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1198C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972067	0.74246	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.65916	0.16;-0.18	5.69	5.69	0.88448	.	0.348076	0.30085	N	0.010452	T	0.64746	0.2626	L	0.55481	1.735	0.80722	D	1	B;B	0.30406	0.215;0.278	B;B	0.36335	0.104;0.222	T	0.61559	-0.7038	10	0.41790	T	0.15	-0.013	19.8786	0.96886	0.0:0.0:1.0:0.0	.	400;400	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	400	ENSP00000329140:P400S;ENSP00000403550:P400S	ENSP00000329140:P400S	P	-	1	0	CREB3L2	137220353	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	CCC		0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		67	287	0	0	0	1	0	67	287					A	137569813	G	A	137569813	3	1	79	1	0	0	0	0	1	0	0	0	3866	1203	42	2	376	2	CREB3L2	7	137569813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4523	137569813	21568850	8913	19230											
CREB3L2	64764	broad.mit.edu	37	chr7	137612945	137612945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaagggcgactgggcCcgaggctcctcgcacaggga	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000330387.6	-	2	621	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_ENST00000458726.1_Silent_p.R27R|CREB3L2_ENST00000456390.1_Silent_p.R90R|CREB3L2_ENST00000452463.1_Silent_p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	90					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)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(268-270)cgG>cgA		cAMP responsive element binding protein 3-like 2							52	41	45					7																	137612945		2202	4300	6502	SO:0001819	synonymous_variant	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.chr7:137612945C>T	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.270G>A	7.37:g.137612945C>T						CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000456390.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R	p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			2	621	-			90					Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.270G>A	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938089	0.34189	.	.	ENSG00000182158	ENST00000420629	T	0.57595	0.39	5.42	1.3	0.21679	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	6	0.87932	D	0	-8.1521	6.3579	0.21412	0.0:0.3595:0.3711:0.2694	.	.	.	.	E	24	ENSP00000402889:G24E	ENSP00000402889:G24E	G	-	2	0	CREB3L2	137263485	0.645000	0.27286	0.996000	0.52242	0.990000	0.78478	-0.387000	0.07361	0.251000	0.21505	0.655000	0.94253	GGG		0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		16	66	0	0	0	1	0	16	66					T	137612945	C	T	137612945	2	4	79	1	0	0	0	0	0	0	0	1	3866	610	22	2		2	CREB3L2	7	137612945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43132	137612945	21525718	8914	19231											
TRIM24	8805	broad.mit.edu	37	chr7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattaggttctttagtaatcGaggataaagagagccagcca	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	426					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTAGTAATCGAGGATAAAGA	0.363																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1276-1278)Gag>Aag		tripartite motif containing 24							70	74	73					7																	138239457		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239457G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1276G>A	7.37:g.138239457G>A	ENSP00000340507:p.Glu426Lys					TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR	p.E426K			O15164	TIF1A_HUMAN			9	1491	+			426					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1276G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733746	0.89482	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79845	-1.31;-1.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.74881	2.28	0.52501	D	0.999958	P;D	0.64830	0.945;0.994	P;D	0.67725	0.637;0.953	D	0.88917	0.3363	10	0.48119	T	0.1	-21.5728	18.8417	0.92186	0.0:0.0:1.0:0.0	.	426;426	O15164;O15164-2	TIF1A_HUMAN;.	K	426;337;426;384	ENSP00000340507:E426K;ENSP00000390829:E426K	ENSP00000340507:E426K	E	+	1	0	TRIM24	137889997	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.716000	0.74702	2.544000	0.85801	0.557000	0.71058	GAG		0.363	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		78	381	0	0	0	1	0	78	381					A	138239457	G	A	138239457	3	1	79	1	0	0	0	0	1	0	0	0	16551	1059	37	1	1310	1	TRIM24	7	138239457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	626512	138239457	20899206	8915	19232											
TRIM24	8805	broad.mit.edu	37	chr7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcagcctagctcaattaCggctccagcatatgcagcaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	469					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGCTCAATTACGGCTCCAGCA	0.502																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1405-1407)Cgg>Tgg		tripartite motif containing 24							113	113	113					7																	138239586		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239586C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1405C>T	7.37:g.138239586C>T	ENSP00000340507:p.Arg469Trp					TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR	p.R469W			O15164	TIF1A_HUMAN			9	1620	+			469					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1405C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544278	0.86022	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.18;-1.17	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.68593	2.085	0.58432	D	0.999996	P;D	0.89917	0.938;1.0	B;D	0.91635	0.384;0.999	D	0.87165	0.2217	10	0.52906	T	0.07	-13.5221	19.328	0.94270	0.0:1.0:0.0:0.0	.	469;469	O15164;O15164-2	TIF1A_HUMAN;.	W	469;380;469;427	ENSP00000340507:R469W;ENSP00000390829:R469W	ENSP00000340507:R469W	R	+	1	2	TRIM24	137890126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.661000	0.90470	0.557000	0.71058	CGG		0.502	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		17	579	0	0	0	1	0	17	579					T	138239586	C	T	138239586	3	4	79	1	0	0	0	0	1	0	0	0	16551	527	19	1	1439	1	TRIM24	7	138239586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	138239586	20899077	8916	19233											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394541	138394541	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagagcacttcagacagttCtgcaaggtacgagaaaccac	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.e21-1		ATPase, H+ transporting, lysosomal V0 subunit a4							67	68	68					7																	138394541		2203	4300	6503	SO:0001630	splice_region_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394541C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2258-1G>T	7.37:g.138394541C>A						ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site		NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2540	-								A4D1R4|A8KA80|Q32M47	Splice_Site	SNP	ENST00000310018.2	37		CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841343	0.91197	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V0A4	138045081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	.		0.368	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	Intron	53	457	1	0	4.1673e-28	1	4.84001e-28	53	457					A	138394541	C	A	138394541	5	1	79	1	0	0	0	0	0	0	1	0	1171	927	32	3	273	3	ATP6V0A4	7	138394541	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154955	138394541	20744122	8917	19234											
KIAA1549	57670	broad.mit.edu	37	chr7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggggcaccagctctgtaGactgcagcaaaccggggcca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000422774.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S1775F			Q9HCM3	K1549_HUMAN	KIAA1549	1775						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5323-5325)tCt>tTt		KIAA1549							18	22	20					7																	138529190		2013	4164	6177	SO:0001583	missense	57670					integral to membrane		g.chr7:138529190G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5324C>T	7.37:g.138529190G>A	ENSP00000416040:p.Ser1775Phe					KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1775F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F	p.S1775F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			18	5372	-			1775					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5324C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837312	0.71373	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30448	1.61;1.62;1.53	4.87	4.87	0.63330	.	0.380247	0.28577	N	0.014859	T	0.51143	0.1657	L	0.56769	1.78	0.46437	D	0.999045	D;P;D;P	0.67145	0.994;0.514;0.996;0.514	P;B;D;B	0.65874	0.87;0.351;0.939;0.351	T	0.53272	-0.8462	10	0.87932	D	0	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	1775;559;1775;559	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	F	1775;1725;1775	ENSP00000406661:S1775F;ENSP00000242365:S1725F;ENSP00000416040:S1775F	ENSP00000242365:S1725F	S	-	2	0	KIAA1549	138179730	1.000000	0.71417	0.859000	0.33776	0.484000	0.33280	7.599000	0.82757	2.558000	0.86282	0.650000	0.86243	TCT		0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	84	0	0	0	1	0	16	84					A	138529190	G	A	138529190	3	1	79	1	0	0	0	0	1	0	0	0	8274	942	33	2	540	2	KIAA1549	7	138529190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134649	138529190	20609473	8918	19235											
KIAA1549	57670	broad.mit.edu	37	chr7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtagactgcagcaaacCggggccaaaacctggtctga	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000422774.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1771S			Q9HCM3	K1549_HUMAN	KIAA1549	1771						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5311-5313)Ggt>Agt		KIAA1549							17	21	20					7																	138529203		2033	4171	6204	SO:0001583	missense	57670					integral to membrane		g.chr7:138529203C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5311G>A	7.37:g.138529203C>T	ENSP00000416040:p.Gly1771Ser					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1771S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S	p.G1771S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			18	5359	-			1771					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5311G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533405	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	2.0;2.01;1.99	5.56	3.77	0.43336	.	0.502498	0.23180	N	0.051023	T	0.11922	0.0290	L	0.41710	1.295	0.36620	D	0.875696	P;B;P;B	0.51449	0.909;0.057;0.945;0.057	B;B;B;B	0.34489	0.09;0.007;0.184;0.007	T	0.14952	-1.0454	10	0.07175	T	0.84	.	10.9538	0.47345	0.0:0.8478:0.0:0.1522	.	1771;555;1771;555	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1771;1721;1771	ENSP00000406661:G1771S;ENSP00000242365:G1721S;ENSP00000416040:G1771S	ENSP00000242365:G1721S	G	-	1	0	KIAA1549	138179743	0.200000	0.23398	0.220000	0.23810	0.830000	0.47004	1.338000	0.33873	0.736000	0.32559	0.650000	0.86243	GGT		0.592	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			15	79	0	0	0	1	0	15	79					T	138529203	C	T	138529203	3	4	79	1	0	0	0	0	1	0	0	0	8274	652	23	1	553	1	KIAA1549	7	138529203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	138529203	20609460	8919	19236											
KIAA1549	57670	broad.mit.edu	37	chr7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgtactcacgctctgCgatctgcagcactgggtatc	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000422774.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1152T			Q9HCM3	K1549_HUMAN	KIAA1549	1152						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3454-3456)Gca>Aca		KIAA1549							72	72	72					7																	138591671		2003	4162	6165	SO:0001583	missense	57670					integral to membrane		g.chr7:138591671C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3454G>A	7.37:g.138591671C>T	ENSP00000416040:p.Ala1152Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1152T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T	p.A1152T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			6	3502	-			1152					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3454G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309989	0.81247	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69561	-0.4;-0.38;-0.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85152	0.0987	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1152;1152	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1152;1102;1152	ENSP00000406661:A1152T;ENSP00000242365:A1102T;ENSP00000416040:A1152T	ENSP00000242365:A1102T	A	-	1	0	KIAA1549	138242211	1.000000	0.71417	0.785000	0.31869	0.310000	0.27922	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GCA		0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			45	222	0	0	0	1	0	45	222					T	138591671	C	T	138591671	3	4	79	1	0	0	0	0	1	0	0	0	8274	768	27	1	2458	1	KIAA1549	7	138591671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62468	138591671	20546992	8920	19237											
KIAA1549	57670	broad.mit.edu	37	chr7	138602176	138602176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcagtgaaaccgtagaCgcttcaacaaactcgagaga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000422774.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000440172.1_Silent_p.A732A			Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2194-2196)gcG>gcA		KIAA1549							66	64	64					7																	138602176		1961	4156	6117	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602176C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2196G>A	7.37:g.138602176C>T						KIAA1549_ENST00000422774.1_Silent_p.A732A|KIAA1549_ENST00000242365.4_Silent_p.A682A	p.A732A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	2244	-			732			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.2196G>A	CCDS56513.1																																																																																				0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			51	216	0	0	0	1	0	51	216					T	138602176	C	T	138602176	2	4	79	1	0	0	0	0	0	0	0	1	8274	523	19	1		1	KIAA1549	7	138602176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10505	138602176	20536487	8921	19238											
KIAA1549	57670	broad.mit.edu	37	chr7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacctgtgtggttgtaacaCtactcatatccacctcggca	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000422774.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S515N			Q9HCM3	K1549_HUMAN	KIAA1549	515	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1543-1545)aGt>aAt		KIAA1549							32	34	33					7																	138602828		2012	4181	6193	SO:0001583	missense	57670					integral to membrane		g.chr7:138602828C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1544G>A	7.37:g.138602828C>T	ENSP00000416040:p.Ser515Asn					KIAA1549_ENST00000422774.1_Missense_Mutation_p.S515N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N	p.S515N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1592	-			515			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1544G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871075	0.17322	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25749	1.78;1.79;1.78	4.05	2.15	0.27550	.	0.739620	0.12433	N	0.469386	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.35971	0.107;0.215	T	0.16630	-1.0396	10	0.38643	T	0.18	.	2.382	0.04357	0.3473:0.3871:0.1687:0.097	.	515;515	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	N	515;465;515	ENSP00000406661:S515N;ENSP00000242365:S465N;ENSP00000416040:S515N	ENSP00000242365:S465N	S	-	2	0	KIAA1549	138253368	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.137000	0.31479	0.336000	0.23639	0.655000	0.94253	AGT		0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			22	87	0	0	0	1	0	22	87					T	138602828	C	T	138602828	3	4	79	1	0	0	0	0	1	0	0	0	8274	565	20	2	4384	2	KIAA1549	7	138602828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	138602828	20535835	8922	19239											
KIAA1549	57670	broad.mit.edu	37	chr7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaagcaccaaattcctgCcaggagttggaacgatgccc	10	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000422774.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G247D			Q9HCM3	K1549_HUMAN	KIAA1549	247						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(739-741)gGc>gAc		KIAA1549							100	102	101					7																	138603632		2035	4178	6213	SO:0001583	missense	57670					integral to membrane		g.chr7:138603632C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.740G>A	7.37:g.138603632C>T	ENSP00000416040:p.Gly247Asp					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G247D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D	p.G247D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	788	-			247					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.740G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415553	0.62511	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27402	1.67;1.67;1.67	4.89	3.0	0.34707	.	0.691511	0.13271	N	0.400557	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.30572	0.055;0.117	T	0.12889	-1.0530	10	0.33940	T	0.23	.	12.5247	0.56079	0.0:0.6777:0.3223:0.0	.	247;247	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	247;197;247	ENSP00000406661:G247D;ENSP00000242365:G197D;ENSP00000416040:G247D	ENSP00000242365:G197D	G	-	2	0	KIAA1549	138254172	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.710000	0.25748	0.602000	0.29896	-0.305000	0.09177	GGC		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			78	333	0	0	0	1	0	78	333					T	138603632	C	T	138603632	3	4	79	1	0	0	0	0	1	0	0	0	8274	739	26	2	5188	2	KIAA1549	7	138603632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	138603632	20535031	8923	19240											
KIAA1549	57670	broad.mit.edu	37	chr7	138603904	138603904	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctggcagaaagttatccatCtcatcgtcattgacggccac	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000422774.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000440172.1_Silent_p.E156E			Q9HCM3	K1549_HUMAN	KIAA1549	156						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(466-468)gaG>gaA		KIAA1549							230	221	224					7																	138603904		2010	4185	6195	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603904C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.468G>A	7.37:g.138603904C>T						KIAA1549_ENST00000422774.1_Silent_p.E156E|KIAA1549_ENST00000242365.4_Silent_p.E106E	p.E156E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	516	-			156					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.468G>A	CCDS56513.1																																																																																				0.488	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			128	729	0	0	0	1	0	128	729					T	138603904	C	T	138603904	2	4	79	1	0	0	0	0	0	0	0	1	8274	912	32	2		2	KIAA1549	7	138603904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272	138603904	20534759	8924	19241											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711299	138711299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctttacttctcGcaagacactgtgaggtagat	7	10	3	3	rs368597211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(892-894)tgC>tgT		zinc finger CCCH-type, antiviral 1-like							89	88	89					7																	138711299		2203	4300	6503	SO:0001819	synonymous_variant	92092							g.chr7:138711299G>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 39"	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.894C>T	7.37:g.138711299G>A							p.C298C	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			5	905	-			298					Q8WUD9	Silent	SNP	ENST00000275766.1	37	c.894C>T	CCDS5850.1																																																																																				0.378	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		36	223	0	0	0	1	0	36	223					A	138711299	G	A	138711299	2	1	79	1	0	0	0	0	0	0	0	1	17629	1079	38	1		1	ZC3HAV1L	7	138711299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107395	138711299	20427364	8925	19242											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138738249	138738249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaactgtcaaaattattCgaacagatagattccacata	6	7	1	2	rs61743965	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138738249C>T	ENST00000242351.5	-	12	2713	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	ZC3HAV1_ENST00000464606.1_Silent_p.S921S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	799	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAAAATTATTCGAACAGATAG	0.398													C|||	8	0.00159744	0.0008	0.0	5008	,	,		20039	0.001		0.006	False		,,,				2504	0.0					ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2395-2397)tcG>tcA		zinc finger CCCH-type, antiviral 1		C		6,4400	11.4+/-27.6	0,6,2197	135	138	137		2397	-6.7	0	7	dbSNP_129	137	54,8546	33.8+/-87.4	0,54,4246	no	coding-synonymous	ZC3HAV1	NM_020119.3		0,60,6443	TT,TC,CC		0.6279,0.1362,0.4613		799/903	138738249	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138738249C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2397G>A	7.37:g.138738249C>T						ZC3HAV1_ENST00000464606.1_Silent_p.S921S	p.S799S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			12	2713	-			799			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.2397G>A	CCDS5851.1																																																																																				0.398	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		21	433	0	0	0	1	0	21	433					T	138738249	C	T	138738249	2	4	79	1	0	0	0	0	0	0	0	1	17628	871	31	1		1	ZC3HAV1	7	138738249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26950	138738249	20400414	8926	19243											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749734	138749734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtcgacgtttgaatttttCcgtttgtctttctaattgga	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	628	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1882-1884)cgG>cgA		zinc finger CCCH-type, antiviral 1							91	90	90					7																	138749734		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749734C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1884G>A	7.37:g.138749734C>T						ZC3HAV1_ENST00000464606.1_Silent_p.R750R|ZC3HAV1_ENST00000471652.1_Silent_p.R628R	p.R628R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2200	-			628			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.1884G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241096	0.05906	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	1.45	0.22620	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	4.121	0.10106	0.1632:0.5872:0.158:0.0916	.	.	.	.	K	193	.	.	E	-	1	0	ZC3HAV1	138400274	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	0.189000	0.20188	0.644000	0.83932	GAA		0.408	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		54	251	0	0	0	1	0	54	251					T	138749734	C	T	138749734	2	4	79	1	0	0	0	0	0	0	0	1	17628	842	30	2		2	ZC3HAV1	7	138749734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11485	138749734	20388929	8927	19244											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138768566	138768566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatgtgcttgctgttGcagatgtcctggatgttctg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	219	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(655-657)tgC>tgT		zinc finger CCCH-type, antiviral 1							81	67	72					7																	138768566		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138768566G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.657C>T	7.37:g.138768566G>A						ZC3HAV1_ENST00000464606.1_Silent_p.C219C|ZC3HAV1_ENST00000471652.1_Silent_p.C219C	p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			3	973	-			219					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.657C>T	CCDS5851.1																																																																																				0.493	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		55	275	0	0	0	1	0	55	275					A	138768566	G	A	138768566	2	1	79	1	0	0	0	0	0	0	0	1	17628	1311	46	2		2	ZC3HAV1	7	138768566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18832	138768566	20370097	8928	19245											
TTC26	79989	broad.mit.edu	37	chr7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagattccaaaactagaggaGctactttcaaaaagagattt	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000464848.1	+	2	176	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	32					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACTAGAGGAGCTACTTTCAA	0.418																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(94-96)gaG>gaT		tetratricopeptide repeat domain 26							81	75	77					7																	138819493		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138819493G>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.96G>T	7.37:g.138819493G>T	ENSP00000419279:p.Glu32Asp					TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D	p.E32D			A0AVF1	TTC26_HUMAN			2	176	+			32					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.96G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296372	0.10622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.41065	1.01;1.03;1.06;1.01;1.02	6.06	1.94	0.25998	.	0.112837	0.64402	N	0.000013	T	0.12390	0.0301	N	0.01874	-0.695	0.38404	D	0.945736	B;B;B;B;B;B;B	0.15473	0.0;0.0;0.001;0.0;0.0;0.013;0.0	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.0;0.001;0.01;0.001	T	0.28776	-1.0033	10	0.02654	T	1	.	6.0868	0.19973	0.0697:0.2421:0.5559:0.1323	.	32;32;32;32;32;32;32	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	D	32	ENSP00000410655:E32D;ENSP00000418788:E32D;ENSP00000419178:E32D;ENSP00000419279:E32D;ENSP00000339135:E32D	ENSP00000339135:E32D	E	+	3	2	TTC26	138470033	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.889000	0.28282	0.404000	0.25506	0.650000	0.86243	GAG		0.418	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		13	288	1	0	2.27111e-07	1	2.35674e-07	13	288					T	138819493	G	T	138819493	3	4	79	1	0	0	0	0	1	0	0	0	16748	962	34	3	102	3	TTC26	7	138819493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50927	138819493	20319170	8929	19246											
TTC26	79989	broad.mit.edu	37	chr7	138824680	138824680	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaattgtaattctgaagtCtgggtgaacctagcttgcac	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000464848.1	+	4	359	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000478836.2_Silent_p.V93V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	93					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(277-279)gtC>gtT		tetratricopeptide repeat domain 26							125	115	119					7																	138824680		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138824680C>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.279C>T	7.37:g.138824680C>T						TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000495038.1_Silent_p.V93V	p.V93V			A0AVF1	TTC26_HUMAN			4	359	+			93					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.279C>T	CCDS5852.1																																																																																				0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		68	309	0	0	0	1	0	68	309					T	138824680	C	T	138824680	2	4	79	1	0	0	0	0	0	0	0	1	16748	900	32	2		2	TTC26	7	138824680	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	138824680	20313983	8930	19247											
UBN2	254048	broad.mit.edu	37	chr7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaaccccgtaaacacCggaaggatcggctacaagat	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	195						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(334-336)Cgg>Tgg		ubinuclein 2							107	107	107					7																	138936723		1828	4088	5916	SO:0001583	missense	254048							g.chr7:138936723C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.583C>T	7.37:g.138936723C>T	ENSP00000418648:p.Arg195Trp					UBN2_ENST00000473989.2_Missense_Mutation_p.R195W	p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	583	+			195			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.334C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096847	0.76870	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.39229	1.11;1.09	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.68317	2.08	0.49687	D	0.999814	D	0.89917	1.0	D	0.77557	0.99	T	0.65861	-0.6065	10	0.87932	D	0	-9.6286	13.501	0.61454	0.2833:0.7167:0.0:0.0	.	195	Q6ZU65	UBN2_HUMAN	W	18;195;112	ENSP00000418648:R195W;ENSP00000288561:R112W	ENSP00000288561:R112W	R	+	1	2	UBN2	138587263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.599000	0.46231	1.344000	0.45657	0.655000	0.94253	CGG		0.373	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		64	365	0	0	0	1	0	64	365					T	138936723	C	T	138936723	3	4	79	1	0	0	0	0	1	0	0	0	16947	643	23	1	593	1	UBN2	7	138936723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112043	138936723	20201940	8931	19248											
UBN2	254048	broad.mit.edu	37	chr7	138936758	138936758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagatttaattgatataggCtttggctatgatgagacaga	10	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(367-369)ggC>ggA		ubinuclein 2							124	122	123					7																	138936758		1841	4078	5919	SO:0001819	synonymous_variant	254048							g.chr7:138936758C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.618C>A	7.37:g.138936758C>A						UBN2_ENST00000473989.2_Silent_p.G206G	p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	618	+			206			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.369C>A	CCDS43655.2																																																																																				0.388	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		69	415	1	0	1.25742e-37	1	1.51121e-37	69	415					A	138936758	C	A	138936758	2	1	79	1	0	0	0	0	0	0	0	1	16947	784	28	3		3	UBN2	7	138936758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	138936758	20201905	8932	19249											
UBN2	254048	broad.mit.edu	37	chr7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctctgaataaacccCcatgtgctgctgcagcactg	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	359						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(826-828)Cca>Tca		ubinuclein 2							73	74	74					7																	138946167		1872	4104	5976	SO:0001583	missense	254048							g.chr7:138946167C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1075C>T	7.37:g.138946167C>T	ENSP00000418648:p.Pro359Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.P359S	p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			6	1075	+			359			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.826C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076166	0.36662	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.19394	2.15;2.15	6.08	5.2	0.72013	.	0.433070	0.27134	N	0.020763	T	0.19604	0.0471	L	0.52759	1.655	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	9	.	.	.	-2.9185	10.8085	0.46531	0.0:0.8016:0.1305:0.0679	.	359	Q6ZU65	UBN2_HUMAN	S	359;276	ENSP00000418648:P359S;ENSP00000288561:P276S	.	P	+	1	0	UBN2	138596707	0.074000	0.21230	0.044000	0.18714	0.311000	0.27955	1.710000	0.37920	1.593000	0.50029	0.655000	0.94253	CCA		0.468	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		61	322	0	0	0	1	0	61	322					T	138946167	C	T	138946167	3	4	79	1	0	0	0	0	1	0	0	0	16947	623	22	2	1097	2	UBN2	7	138946167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9409	138946167	20192496	8933	19250											
UBN2	254048	broad.mit.edu	37	chr7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacttcagaggtcaaGccagattcacacttcttcct	7	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	885	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2404-2406)aGc>aAc		ubinuclein 2							86	85	85					7																	138968305		1952	4153	6105	SO:0001583	missense	254048							g.chr7:138968305G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2654G>A	7.37:g.138968305G>A	ENSP00000418648:p.Ser885Asn					UBN2_ENST00000473989.2_Missense_Mutation_p.S885N	p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2654	+			885					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2405G>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289146	0.40494	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35789	1.33;1.29	5.55	5.55	0.83447	.	0.190170	0.49305	D	0.000144	T	0.29976	0.0750	L	0.43152	1.355	0.33106	D	0.539887	B	0.32245	0.361	B	0.24155	0.051	T	0.40813	-0.9543	10	0.37606	T	0.19	-3.5989	14.6869	0.69055	0.0:0.0:0.8548:0.1451	.	885	Q6ZU65	UBN2_HUMAN	N	885;802	ENSP00000418648:S885N;ENSP00000288561:S802N	ENSP00000288561:S802N	S	+	2	0	UBN2	138618845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.846000	0.55888	2.775000	0.95449	0.467000	0.42956	AGC		0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		48	420	0	0	0	1	0	48	420					A	138968305	G	A	138968305	3	1	79	1	0	0	0	0	1	0	0	0	16947	971	34	2	2712	2	UBN2	7	138968305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22138	138968305	20170358	8934	19251											
UBN2	254048	broad.mit.edu	37	chr7	138968549	138968549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatccccaactctcctgTtcctcctcacttattaagac	2	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	966	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACTCTCCTGTTCCTCCTCAC	0.498																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2647-2649)tgT>tgC		ubinuclein 2							104	100	101					7																	138968549		1933	4126	6059	SO:0001819	synonymous_variant	254048							g.chr7:138968549T>C	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2898T>C	7.37:g.138968549T>C						UBN2_ENST00000473989.2_Silent_p.C966C	p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2898	+			966					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.2649T>C	CCDS43655.2																																																																																				0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		10	339	0	0	0	1	0	10	339					C	138968549	T	C	138968549	2	2	79	1	0	0	0	0	0	0	0	1	16947	1731	60	4		4	UBN2	7	138968549	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	244	138968549	20170114	8935	19252											
UBN2	254048	broad.mit.edu	37	chr7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttactaaagggtttacaGccaggaggagctcagcatgc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1307						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3670-3672)caG>caT		ubinuclein 2							80	83	82					7																	138978654		2082	4225	6307	SO:0001583	missense	254048							g.chr7:138978654G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3921G>T	7.37:g.138978654G>T	ENSP00000418648:p.Gln1307His					UBN2_ENST00000473989.2_Missense_Mutation_p.Q1307H	p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			17	3921	+			1307			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3672G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275816	0.59649	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.33216	1.42;1.44	5.86	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.17082	0.46	0.44123	D	0.996905	D	0.62365	0.991	P	0.53185	0.72	T	0.02026	-1.1227	10	0.07990	T	0.79	-10.5282	12.7516	0.57312	0.1324:0.0:0.8676:0.0	.	1307	Q6ZU65	UBN2_HUMAN	H	1307;1224	ENSP00000418648:Q1307H;ENSP00000288561:Q1224H	ENSP00000288561:Q1224H	Q	+	3	2	UBN2	138629194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	0.949000	0.37715	0.650000	0.86243	CAG		0.438	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		25	178	1	0	1.04121e-07	1	1.08382e-07	25	178					T	138978654	G	T	138978654	3	4	79	1	0	0	0	0	1	0	0	0	16947	962	34	3	3987	3	UBN2	7	138978654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10105	138978654	20160009	8936	19253											
LUC7L2	100996928	broad.mit.edu	37	chr7	139092004	139092004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctgcctatttaggaCttcatgataatgacagacga	8	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139092004C>T	ENST00000354926.4	+	6	949	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.L196F|LUC7L2_ENST00000541515.3_Missense_Mutation_p.L265F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.L198F	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CTATTTAGGACTTCATGATAA	0.403																																						ENST00000354926.4																			0											c.(595-597)Ctt>Ttt									96	89	92					7																	139092004		1822	4083	5905	SO:0001583	missense	0							g.chr7:139092004C>T		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.595C>T	7.37:g.139092004C>T	ENSP00000347005:p.Leu199Phe					LUC7L2_ENST00000541515.3_Missense_Mutation_p.L265F|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.L196F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.L198F	p.L199F	NM_016019.3	NP_057103.2					6	949	+									Missense_Mutation	SNP	ENST00000354926.4	37	c.595C>T	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399688	0.96030	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.49139	1.54;1.54;1.54;0.79	5.84	5.84	0.93424	.	0.056875	0.64402	D	0.000001	T	0.72518	0.3470	M	0.79805	2.47	0.53005	D	0.999960	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.81914	0.995;0.985;0.974;0.992	T	0.73642	-0.3918	9	0.59425	D	0.04	-8.0444	20.1336	0.98010	0.0:1.0:0.0:0.0	.	265;196;198;199	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	F	196;265;199;199;198	ENSP00000441604:L196F;ENSP00000440222:L265F;ENSP00000347005:L199F;ENSP00000263545:L198F	ENSP00000263545:L198F	L	+	1	0	LUC7L2	138742544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.767000	0.95098	0.591000	0.81541	CTT		0.403	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			53	283	0	0	0	1	0	53	283					T	139092004	C	T	139092004	3	4	79	1	0	0	0	0	1	0	0	0	9121	565	20	2	617	2	LUC7L2	7	139092004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113350	139092004	20046659	8937	19254											
KLRG2	346689	broad.mit.edu	37	chr7	139168360	139168360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctgccccggcttggcctCcgggcgcagcctcccaagac	12	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	ENST00000340940.4	-	1	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	10						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTGGCCTCCGGGCGCAGC	0.711																																						ENST00000340940.4																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(28-30)gGa>gAa		killer cell lectin-like receptor subfamily G, member 2							5	6	6					7																	139168360		1761	3749	5510	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139168360C>T	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.29G>A	7.37:g.139168360C>T	ENSP00000339356:p.Gly10Glu					KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN			1	98	-	Melanoma(164;0.233)		10					Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.29G>A	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	6.107	0.388050	0.11581	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.58797	3.38;0.31	3.01	-6.02	0.02192	.	.	.	.	.	T	0.25717	0.0626	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.33292	-0.9874	9	0.02654	T	1	0.0	4.7501	0.13056	0.0:0.2197:0.3042:0.476	.	10;10	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	E	10	ENSP00000339356:G10E;ENSP00000376759:G10E	ENSP00000339356:G10E	G	-	2	0	KLRG2	138818900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	-1.513000	0.01789	-0.680000	0.03767	GGA		0.711	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		15	71	0	0	0	1	0	15	71					T	139168360	C	T	139168360	3	4	79	1	0	0	0	0	1	0	0	0	8452	855	30	2	1220	2	KLRG2	7	139168360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76356	139168360	19970303	8938	19255											
CLEC2L	154790	broad.mit.edu	37	chr7	139226862	139226862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggggacccgtttgatccGgacacgtgagctgaggcttc	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	176	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552																																						ENST00000422142.2																			0				NS(1)|endometrium(1)|kidney(2)|lung(1)	5						c.(526-528)ccG>ccA		C-type lectin domain family 2, member L							54	62	59					7																	139226862		1974	4163	6137	SO:0001819	synonymous_variant	154790					integral to membrane	sugar binding	g.chr7:139226862G>A	AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"C-type lectin domain containing"	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.528G>A	7.37:g.139226862G>A							p.P176P	NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN			4	600	+	Melanoma(164;0.233)		176			C-type lectin.			Silent	SNP	ENST00000422142.2	37	c.528G>A	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684991	0.14973	.	.	ENSG00000236279	ENST00000521281	.	.	.	4.44	-8.89	0.00785	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.32012	N	0.601904	.	.	.	.	.	.	T	0.11131	-1.0600	4	.	.	.	-10.2005	2.878	0.05638	0.5044:0.0892:0.2281:0.1784	.	.	.	.	Q	100	.	.	R	+	2	0	CLEC2L	138877402	0.007000	0.16637	0.247000	0.24249	0.869000	0.49853	-2.660000	0.00851	-2.867000	0.00324	-1.166000	0.01754	CGG		0.552	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		9	74	0	0	0	1	0	9	74					A	139226862	G	A	139226862	2	1	79	1	0	0	0	0	0	0	0	1	3518	1103	39	1		1	CLEC2L	7	139226862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58502	139226862	19911801	8939	19256											
HIPK2	28996	broad.mit.edu	37	chr7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccacatttaagggCtgtgctgctggaagggtcac	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	781	Interaction with CTBP1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2341-2343)caG>caT		homeodomain interacting protein kinase 2							102	107	105					7																	139285255		2143	4243	6386	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285255C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2343G>T	7.37:g.139285255C>A	ENSP00000385571:p.Gln781His					HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H	p.Q781H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2437	-	Melanoma(164;0.205)		781			Interaction with CTBP1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2343G>T		.	.	.	.	.	.	.	.	.	.	C	14.50	2.553352	0.45487	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27720	1.65;1.65;1.65	4.84	0.716	0.18191	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.40005	D	0.975215	D;D	0.63046	0.992;0.988	D;D	0.74674	0.976;0.984	T	0.41752	-0.9491	8	0.49607	T	0.09	.	7.4575	0.27274	0.0:0.6539:0.1212:0.2249	.	781;754	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	781;754;781	ENSP00000385571:Q781H;ENSP00000413724:Q754H;ENSP00000343108:Q781H	ENSP00000343108:Q781H	Q	-	3	2	HIPK2	138935795	1.000000	0.71417	0.999000	0.59377	0.460000	0.32559	1.702000	0.37836	0.258000	0.21686	-0.157000	0.13467	CAG		0.557	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		48	243	1	0	1.48734e-19	1	1.65976e-19	48	243					A	139285255	C	A	139285255	3	1	79	1	0	0	0	0	1	0	0	0	7147	796	28	3	1273	3	HIPK2	7	139285255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58393	139285255	19853408	8940	19257											
HIPK2	28996	broad.mit.edu	37	chr7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcaggccgggcacaaatCtgggctgttcctgtctgcag	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	643	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1927-1929)caG>caT		homeodomain interacting protein kinase 2							45	52	50					7																	139299093		1961	4144	6105	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299093C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1929G>T	7.37:g.139299093C>A	ENSP00000385571:p.Gln643His					HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H	p.Q643H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			8	2023	-	Melanoma(164;0.205)		643			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1929G>T		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360598	0.61403	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55760	0.5;0.57;0.61	5.48	3.65	0.41850	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.45150	D	0.998168	P;D	0.64830	0.855;0.994	P;P	0.62740	0.459;0.906	T	0.59118	-0.7514	8	0.26408	T	0.33	.	11.2298	0.48905	0.0:0.8506:0.0:0.1494	.	643;616	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	643;616;643	ENSP00000385571:Q643H;ENSP00000413724:Q616H;ENSP00000343108:Q643H	ENSP00000343108:Q643H	Q	-	3	2	HIPK2	138949633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	0.770000	0.33336	0.563000	0.77884	CAG		0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		17	89	1	0	2.23348e-06	1	2.30073e-06	17	89					A	139299093	C	A	139299093	3	1	79	1	0	0	0	0	1	0	0	0	7147	912	32	3	1699	3	HIPK2	7	139299093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13838	139299093	19839570	8941	19258											
HIPK2	28996	broad.mit.edu	37	chr7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacgcttgagtccacattTttggtaggtatcaaggaggc	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	128	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(382-384)Aaa>Caa		homeodomain interacting protein kinase 2							102	84	90					7																	139416452		1568	3582	5150	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416452T>G	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.382A>C	7.37:g.139416452T>G	ENSP00000385571:p.Lys128Gln					HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q|HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q	p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			2	476	-	Melanoma(164;0.205)		128			Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.382A>C		.	.	.	.	.	.	.	.	.	.	T	20.3	3.959497	0.74016	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51817	0.69;0.72;0.7	5.28	5.28	0.74379	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.44254	D	0.997109	P;P	0.39665	0.682;0.59	B;B	0.33690	0.115;0.168	T	0.27839	-1.0062	8	0.39692	T	0.17	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	128;128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	128	ENSP00000385571:K128Q;ENSP00000413724:K128Q;ENSP00000343108:K128Q	ENSP00000343108:K128Q	K	-	1	0	HIPK2	139062938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.346000	0.65992	1.987000	0.57996	0.460000	0.39030	AAA		0.542	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		23	164	0	0	0	1	0	23	164					G	139416452	T	G	139416452	3	3	79	1	0	0	0	0	1	0	0	0	7147	1850	64	4	3270	4	HIPK2	7	139416452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117359	139416452	19722211	8942	19259											
TBXAS1	6916	broad.mit.edu	37	chr7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtggttgccagcgtcGcctttggcaccccggtggac	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000336425.5	+	11	969	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	194				A -> P (in Ref. 2; AAA60617/AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/ AAF99272/AAF99273/AAF99274/AAF99275/ AAF99276/AAF99277/AAF99278/AAF99279 and 10; AAA36742). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCCAGCGTCGCCTTTGGCAC	0.567																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(583-585)Gcc>Acc		thromboxane A synthase 1 (platelet)							98	99	99					7																	139655298		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655298G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.580G>A	7.37:g.139655298G>A	ENSP00000338087:p.Ala194Thr					TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A194T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T	p.A195T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			11	1121	+	Melanoma(164;0.0142)		194					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.583G>A		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604960	0.66445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.79	4.9	0.64082	.	0.052582	0.85682	D	0.000000	D	0.84520	0.5490	M	0.89414	3.03	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	0.991;0.982;0.998;1.0;0.991;0.998;0.998	D	0.87738	0.2583	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:0.8662:0.1338	.	175;241;146;127;195;195;194	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	127;195;194;241;195;195;194;240;194	ENSP00000388736:A127T;ENSP00000263552:A195T;ENSP00000338087:A194T;ENSP00000389414:A241T;ENSP00000392361:A195T;ENSP00000392702:A195T;ENSP00000402536:A194T;ENSP00000411274:A240T;ENSP00000411326:A194T	ENSP00000263552:A195T	A	+	1	0	TBXAS1	139301767	1.000000	0.71417	0.887000	0.34795	0.021000	0.10359	8.723000	0.91458	1.428000	0.47296	-0.182000	0.12963	GCC		0.567	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			126	570	0	0	0	1	0	126	570					A	139655298	G	A	139655298	3	1	79	1	0	0	0	0	1	0	0	0	15716	1087	38	1	751	1	TBXAS1	7	139655298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238846	139655298	19483365	8943	19260											
PARP12	64761	broad.mit.edu	37	chr7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccaggttctgtactcGctcaatcttctgaacaaagt	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1591-1593)Cga>Tga		poly (ADP-ribose) polymerase family, member 12							97	88	91					7																	139727113		2203	4300	6503	SO:0001587	stop_gained	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139727113G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1591C>T	7.37:g.139727113G>A	ENSP00000263549:p.Arg531*						p.R531*	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			10	2464	-	Melanoma(164;0.0142)		531			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	37	c.1591C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	PARP12	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA		0.537	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		65	272	0	0	0	1	0	65	272					A	139727113	G	A	139727113	4	1	79	1	0	0	0	0	0	1	0	0	11499	1095	38	1	526	1	PARP12	7	139727113	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71815	139727113	19411550	8944	19261											
JHDM1D	80853	broad.mit.edu	37	chr7	139829450	139829450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttataattatttcatcGgcactaaggaaaaacataag	5	6	2	0	rs368815114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		134					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATTTCATCGGCACTAAGGA	0.328																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(400-402)gcC>gcT				G		1,3665		0,1,1832	87	79	81		402	2.7	1	7		81	0,8176		0,0,4088	no	coding-synonymous	JHDM1D	NM_030647.1		0,1,5920	AA,AG,GG		0.0,0.0273,0.0084		134/942	139829450	1,11841	1833	4088	5921	SO:0001819	synonymous_variant	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139829450G>A																												ENST00000397560.2:c.402C>T	7.37:g.139829450G>A						JHDM1D_ENST00000006967.5_Silent_p.A134A	p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			4	499	-	Melanoma(164;0.0142)		134					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	c.402C>T	CCDS43658.1																																																																																				0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			34	180	0	0	0	1	0	34	180					A	139829450	G	A	139829450	2	1	79	1	0	0	0	0	0	0	0	1	7978	1103	39	1		1	JHDM1D	7	139829450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102337	139829450	19309213	8945	19262											
SLC37A3	84255	broad.mit.edu	37	chr7	140035278	140035278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccctcactattaatggCgagataaacacaattgtaca	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140035278C>T	ENST00000326232.9	-	15	1622	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	SLC37A3_ENST00000340308.3_Missense_Mutation_p.A373T|SLC37A3_ENST00000447932.2_Silent_p.S457S	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	473					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTATTAATGGCGAGATAAACA	0.393																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000340308.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(1117-1119)Gcc>Acc		solute carrier family 37, member 3							72	67	68					7																	140035278		2203	4300	6503	SO:0001819	synonymous_variant	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140035278C>T	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1419G>A	7.37:g.140035278C>T						SLC37A3_ENST00000447932.2_Silent_p.S457S|SLC37A3_ENST00000326232.9_Silent_p.S473S	p.A373T	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN			12	1228	-	Melanoma(164;0.0142)		0					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.1117G>A	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	C	8.445	0.851696	0.17034	.	.	ENSG00000157800	ENST00000340308;ENST00000491357;ENST00000492027	T	0.19105	2.17	5.18	-10.4	0.00318	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.29336	-1.0015	8	0.33940	T	0.23	-35.976	6.1954	0.20548	0.155:0.4635:0.2354:0.1461	.	373	Q8NCC5-3	.	T	373;52;60	ENSP00000343358:A373T	ENSP00000343358:A373T	A	-	1	0	SLC37A3	139681747	0.029000	0.19370	0.007000	0.13788	0.674000	0.39518	-1.420000	0.02457	-3.521000	0.00148	-0.312000	0.09012	GCC		0.393	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		7	343	0	0	0	1	0	7	343					T	140035278	C	T	140035278	2	4	79	1	0	0	0	0	0	0	0	1	14649	768	27	1		1	SLC37A3	7	140035278	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205828	140035278	19103385	8946	19263											
SLC37A3	84255	broad.mit.edu	37	chr7	140051074	140051074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaagcggtccttaccGgtatgactccaggaaggcaa	12	9	0	2	rs558974013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Splice_Site_p.P294L|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	294					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GGTCCTTACCGGTATGACTCC	0.478													G|||	9	0.00179712	0.0	0.0	5008	,	,		20238	0.0		0.0	False		,,,				2504	0.0092				Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.e9+1		solute carrier family 37, member 3							116	93	101					7																	140051074		2203	4300	6503	SO:0001630	splice_region_variant	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140051074G>A	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.882+1C>T	7.37:g.140051074G>A						SLC37A3_ENST00000340308.3_Splice_Site_p.P294_splice|SLC37A3_ENST00000447932.2_Splice_Site_p.P294_splice|SLC37A3_ENST00000429996.2_3'UTR	p.P294_splice	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN			9	1084	-	Melanoma(164;0.0142)		294					Q6PIU7|Q86SS4|Q9BQG7	Splice_Site	SNP	ENST00000326232.9	37	c.882_splice	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.104485|2.104485	0.37145|0.37145	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.9|4.9	2.36|2.36	0.29203|0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.232813|.	0.46442|.	N|.	0.000296|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.003;0.009;0.003|.	B;B;B|.	0.15052|.	0.005;0.012;0.009|.	T|T	0.08659|0.08659	-1.0711|-1.0711	10|5	0.33141|.	T|.	0.24|.	-48.9586|-48.9586	4.9445|4.9445	0.13982|0.13982	0.5043:0.0:0.4957:0.0|0.5043:0.0:0.4957:0.0	.|.	294;294;294|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	L|C	294|73	ENSP00000343358:P294L;ENSP00000397481:P294L;ENSP00000321498:P294L|.	ENSP00000321498:P294L|.	P|R	-|-	2|1	0|0	SLC37A3|SLC37A3	139697543|139697543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.871000|1.871000	0.39539|0.39539	1.024000|1.024000	0.39682|0.39682	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.478	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295	Missense_Mutation	30	239	0	0	0	1	0	30	239					A	140051074	G	A	140051074	5	1	79	1	0	0	0	0	0	0	1	0	14649	1130	39	1	780	1	SLC37A3	7	140051074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15796	140051074	19087589	8947	19264											
RAB19	401409	broad.mit.edu	37	chr7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggccaggagcgcttccGcaccatcacccaaagctact	9	16	1	0	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000356407.3	+	2	307	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_ENST00000275874.5_Missense_Mutation_p.R127H|RAB19_ENST00000537763.1_Missense_Mutation_p.R80H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	80					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16060	0.0		0.0	False		,,,				2504	0.0					ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(379-381)cGc>cAc		RAB19, member RAS oncogene family		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	123	101	108		239	4.7	1	7	dbSNP_134	108	0,8600		0,0,4300	yes	missense	RAB19	NM_001008749.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	80/218	140111711	3,13003	2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111711G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.239G>A	7.37:g.140111711G>A	ENSP00000348778:p.Arg80His					RAB19_ENST00000537763.1_Missense_Mutation_p.R80H|RAB19_ENST00000356407.3_Missense_Mutation_p.R80H	p.R127H			A4D1S5	RAB19_HUMAN			4	578	+	Melanoma(164;0.0142)		80					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.380G>A	CCDS34762.2	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.254546	0.80135	6.81E-4	0.0	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	4.68	0.58851	Small GTP-binding protein domain (1);	0.098409	0.64402	D	0.000001	T	0.82139	0.4972	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.50378	0.639	D	0.84581	0.0661	10	0.87932	D	0	.	13.6217	0.62140	0.0775:0.0:0.9225:0.0	.	80	A4D1S5	RAB19_HUMAN	H	80;127;80;80	ENSP00000420782:R80H;ENSP00000275874:R127H;ENSP00000440167:R80H;ENSP00000348778:R80H	ENSP00000275874:R127H	R	+	2	0	RAB19	139758180	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.678000	0.68153	1.300000	0.44818	0.491000	0.48974	CGC		0.582	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			59	314	0	0	0	1	0	59	314					A	140111711	G	A	140111711	3	1	79	1	0	0	0	0	1	0	0	0	12954	1087	38	1	245	1	RAB19	7	140111711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60637	140111711	19026952	8948	19265											
MKRN1	23608	broad.mit.edu	37	chr7	140156610	140156610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccacacaccatgtccttGctgcgctgcacggcaaatga	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000255977.2	-	5	1052	c.828C>T	c.(826-828)agC>agT	p.S276S	MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000480552.1_Missense_Mutation_p.A60V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	276					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCATGTCCTTGCTGCGCTGCA	0.542																																						ENST00000480552.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(178-180)gCa>gTa		makorin ring finger protein 1							75	61	66					7																	140156610		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140156610G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.828C>T	7.37:g.140156610G>A						MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000255977.2_Silent_p.S276S	p.A60V			Q9UHC7	MKRN1_HUMAN			3	275	-	Melanoma(164;0.00956)		94					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.179C>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000133606	ENST00000480552	.	.	.	5.11	-4.25	0.03766	.	.	.	.	.	T	0.64746	0.2626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65569	-0.6136	5	0.37606	T	0.19	.	14.1562	0.65419	0.5958:0.0:0.4042:0.0	.	.	.	.	V	60	.	ENSP00000419894:A60V	A	-	2	0	MKRN1	139803079	0.199000	0.23386	0.951000	0.38953	0.999000	0.98932	-0.268000	0.08607	-0.801000	0.04427	0.655000	0.94253	GCA		0.542	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		36	189	0	0	0	1	0	36	189					A	140156610	G	A	140156610	2	1	79	1	0	0	0	0	0	0	0	1	9647	1310	46	2		2	MKRN1	7	140156610	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44899	140156610	18982053	8949	19266											
DENND2A	27147	broad.mit.edu	37	chr7	140301472	140301472	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaaggctccggtcccaGggccttctgcatgaaccttt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140301472G>T	ENST00000275884.6	-	2	1143	c.726C>A	c.(724-726)ccC>ccA	p.P242P	DENND2A_ENST00000492720.1_Silent_p.P242P|DENND2A_ENST00000537639.1_Silent_p.P242P|DENND2A_ENST00000496613.1_Silent_p.P242P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	242					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)			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)					TCCGGTCCCAGGGCCTTCTGC	0.602																																						ENST00000275884.6																			0				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						c.(724-726)ccC>ccA		DENN/MADD domain containing 2A							103	105	105					7																	140301472		1884	4099	5983	SO:0001819	synonymous_variant	27147							g.chr7:140301472G>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.726C>A	7.37:g.140301472G>T						DENND2A_ENST00000537639.1_Silent_p.P242P|DENND2A_ENST00000496613.1_Silent_p.P242P|DENND2A_ENST00000492720.1_Silent_p.P242P	p.P242P			Q9ULE3	DEN2A_HUMAN			2	1143	-	Melanoma(164;0.00956)		242					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.726C>A	CCDS43659.1																																																																																				0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		13	959	1	0	0.00136819	1	0.0013818	13	959					T	140301472	G	T	140301472	2	4	79	1	0	0	0	0	0	0	0	1	4445	987	35	3		3	DENND2A	7	140301472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144862	140301472	18837191	8950	19267											
DENND2A	27147	broad.mit.edu	37	chr7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagatgggcaagggTtctgaacacctctgagctgc	13	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	30					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)			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)					TGGGCAAGGGTTCTGAACACC	0.522																																						ENST00000275884.6																			0				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						c.(88-90)aAc>aGc		DENN/MADD domain containing 2A							124	116	119					7																	140302109		1955	4161	6116	SO:0001583	missense	27147							g.chr7:140302109T>C	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.89A>G	7.37:g.140302109T>C	ENSP00000275884:p.Asn30Ser					DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S	p.N30S			Q9ULE3	DEN2A_HUMAN			2	506	-	Melanoma(164;0.00956)		30					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.89A>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324022	0.24080	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.91	-2.35	0.06684	.	0.760646	0.11806	N	0.527668	T	0.60958	0.2309	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.007;0.002	T	0.42292	-0.9460	10	0.18276	T	0.48	-8.5843	5.9459	0.19219	0.0:0.2146:0.371:0.4144	.	30;30	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	30	ENSP00000275884:N30S;ENSP00000442245:N30S;ENSP00000419654:N30S;ENSP00000419464:N30S;ENSP00000418844:N30S;ENSP00000418088:N30S	ENSP00000275884:N30S	N	-	2	0	DENND2A	139948578	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.537000	0.06128	-0.572000	0.06006	0.533000	0.62120	AAC		0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		69	343	0	0	0	1	0	69	343					C	140302109	T	C	140302109	3	2	79	1	0	0	0	0	1	0	0	0	4445	1725	60	4	3012	4	DENND2A	7	140302109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	637	140302109	18836554	8951	19268											
ADCK2	90956	broad.mit.edu	37	chr7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggctgagagagctctttgGataccttggaaatggccgga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	255	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(763-765)gGa>gAa		aarF domain containing kinase 2							55	62	60					7																	140373894		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373894G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.764G>A	7.37:g.140373894G>A	ENSP00000072869:p.Gly255Glu					ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	942	+	Melanoma(164;0.00956)		255			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.764G>A	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554702|2.554702	0.45487|0.45487	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.11604|.	3.12;2.76|.	3.72|3.72	1.83|1.83	0.25207|0.25207	.|.	0.286988|.	0.30085|.	N|.	0.010442|.	T|.	0.40398|.	0.1115|.	L|L	0.54323|0.54323	1.7|1.7	0.27893|0.27893	N|N	0.939245|0.939245	P;P|.	0.41313|.	0.745;0.745|.	B;B|.	0.39935|.	0.314;0.314|.	T|.	0.31586|.	-0.9938|.	10|.	0.49607|.	T|.	0.09|.	-1.8332|-1.8332	5.9138|5.9138	0.19043|0.19043	0.1818:0.1595:0.6587:0.0|0.1818:0.1595:0.6587:0.0	.|.	255;255|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	E|X	255|92	ENSP00000072869:G255E;ENSP00000420512:G255E|.	ENSP00000072869:G255E|.	G|W	+|+	2|3	0|0	ADCK2|ADCK2	140020363|140020363	0.742000|0.742000	0.28228|0.28228	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	1.173000|1.173000	0.31920|0.31920	0.240000|0.240000	0.21263|0.21263	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		77	318	0	0	0	1	0	77	318					A	140373894	G	A	140373894	3	1	79	1	0	0	0	0	1	0	0	0	289	1174	41	2	766	2	ADCK2	7	140373894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71785	140373894	18764769	8952	19269											
ADCK2	90956	broad.mit.edu	37	chr7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggataactttgtccatGcagaccttcaccctggaaac	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	444	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1330-1332)Gca>Aca		aarF domain containing kinase 2							137	125	129					7																	140386814		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140386814G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1330G>A	7.37:g.140386814G>A	ENSP00000072869:p.Ala444Thr					ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			5	1508	+	Melanoma(164;0.00956)		444			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1330G>A	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255380|4.255380	0.80135|0.80135	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.147326|.	0.46442|.	D|.	0.000299|.	T|T	0.77857|0.77857	0.4193|0.4193	M|M	0.77313|0.77313	2.365|2.365	0.47276|0.47276	D|D	0.999379|0.999379	B;P|.	0.52842|.	0.397;0.956|.	B;P|.	0.52424|.	0.278;0.698|.	T|T	0.77710|0.77710	-0.2486|-0.2486	10|5	0.87932|.	D|.	0|.	-18.9077|-18.9077	18.9433|18.9433	0.92612|0.92612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	444;444|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	T|Y	444;444;84|281	ENSP00000072869:A444T;ENSP00000420512:A444T;ENSP00000420288:A84T|.	ENSP00000072869:A444T|.	A|C	+|+	1|2	0|0	ADCK2|ADCK2	140033283|140033283	1.000000|1.000000	0.71417|0.71417	0.350000|0.350000	0.25708|0.25708	0.098000|0.098000	0.18820|0.18820	9.218000|9.218000	0.95166|0.95166	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.537	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		101	465	0	0	0	1	0	101	465					A	140386814	G	A	140386814	3	1	79	1	0	0	0	0	1	0	0	0	289	1319	46	2	1348	2	ADCK2	7	140386814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12920	140386814	18751849	8953	19270											
WEE2	494551	broad.mit.edu	37	chr7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttttaagtgaggaagCtggtccagaggaaggcaagg	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	183					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(547-549)gCt>gTt		WEE1 homolog 2 (S. pombe)							101	98	99					7																	141416030		1912	4104	6016	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141416030C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.548C>T	7.37:g.141416030C>T	ENSP00000380675:p.Ala183Val					WEE2-AS1_ENST00000488785.1_RNA	p.A183V	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			3	954	+	Melanoma(164;0.0171)		183						Missense_Mutation	SNP	ENST00000397541.2	37	c.548C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674752	0.47781	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.01	2.18	0.27775	.	11.907100	0.01046	U	0.004386	T	0.29288	0.0729	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.18713	-1.0328	10	0.42905	T	0.14	.	6.6502	0.22957	0.0:0.78:0.0:0.22	.	183	P0C1S8	WEE2_HUMAN	V	183	ENSP00000380675:A183V	ENSP00000380675:A183V	A	+	2	0	WEE2	141062499	0.047000	0.20315	0.013000	0.15412	0.928000	0.56348	1.146000	0.31589	0.461000	0.27071	0.556000	0.70494	GCT		0.393	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		86	431	0	0	0	1	0	86	431					T	141416030	C	T	141416030	3	4	79	1	0	0	0	0	1	0	0	0	17399	797	28	2	558	2	WEE2	7	141416030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029216	141416030	17722633	8954	19271											
WEE2	494551	broad.mit.edu	37	chr7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcacccccatgtggtaCgttactattcctcatgggca	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(820-822)Cgt>Tgt		WEE1 homolog 2 (S. pombe)							146	136	139					7																	141420796		1903	4116	6019	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420796C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.820C>T	7.37:g.141420796C>T	ENSP00000380675:p.Arg274Cys					WEE2-AS1_ENST00000488785.1_RNA	p.R274C	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1226	+	Melanoma(164;0.0171)		274			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.820C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925600	0.92319	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.68181	0.88;-0.31	5.53	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.84986	0.5594	H	0.95780	3.72	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	D	0.89509	0.3770	10	0.87932	D	0	.	14.5441	0.68015	0.0:0.9296:0.0:0.0704	.	274	P0C1S8	WEE2_HUMAN	C	274;49	ENSP00000380675:R274C;ENSP00000420388:R49C	ENSP00000380675:R274C	R	+	1	0	WEE2	141067265	1.000000	0.71417	0.776000	0.31678	0.983000	0.72400	4.624000	0.61254	1.342000	0.45619	0.655000	0.94253	CGT		0.408	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		111	545	0	0	0	1	0	111	545					T	141420796	C	T	141420796	3	4	79	1	0	0	0	0	1	0	0	0	17399	536	19	1	838	1	WEE2	7	141420796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4766	141420796	17717867	8955	19272											
WEE2	494551	broad.mit.edu	37	chr7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgaacagcaggagagCgtgagcctctgcattaaagg	13	7	1	4	rs376582395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	563					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R563C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17977	0.0		0.0	False		,,,				2504	0.001					ENST00000397541.2																			1	Substitution - Missense(1)	p.R563C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1687-1689)Cgt>Tgt		WEE1 homolog 2 (S. pombe)		C	CYS/ARG	1,3759		0,1,1879	126	115	119		1687	3.7	0.1	7		119	0,8230		0,0,4115	no	missense	WEE2	NM_001105558.1	180	0,1,5994	TT,TC,CC		0.0,0.0266,0.0083	benign	563/568	141430103	1,11989	1880	4115	5995	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141430103C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1687C>T	7.37:g.141430103C>T	ENSP00000380675:p.Arg563Cys					WEE2-AS1_ENST00000488785.1_RNA	p.R563C	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			12	2093	+	Melanoma(164;0.0171)		563						Missense_Mutation	SNP	ENST00000397541.2	37	c.1687C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397862	0.25205	2.66E-4	0.0	ENSG00000214102	ENST00000397541	T	0.57595	0.39	4.59	3.71	0.42584	.	0.700724	0.12953	U	0.425718	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.06716	-1.0811	10	0.54805	T	0.06	.	8.663	0.34103	0.0:0.8958:0.0:0.1042	.	563	P0C1S8	WEE2_HUMAN	C	563	ENSP00000380675:R563C	ENSP00000380675:R563C	R	+	1	0	WEE2	141076572	0.000000	0.05858	0.061000	0.19648	0.016000	0.09150	-0.330000	0.07925	1.280000	0.44463	0.655000	0.94253	CGT		0.418	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		53	179	0	0	0	1	0	53	179					T	141430103	C	T	141430103	3	4	79	1	0	0	0	0	1	0	0	0	17399	768	27	1	1733	1	WEE2	7	141430103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9307	141430103	17708560	8956	19273											
TAS2R3	50831	broad.mit.edu	37	chr7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctactgcctgaaaatcGccagtttctctcaccccaca	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	112					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(334-336)Gcc>Acc		taste receptor, type 2, member 3							257	235	242					7																	141464292		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464292G>A	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.334G>A	7.37:g.141464292G>A	ENSP00000247879:p.Ala112Thr					SSBP1_ENST00000465582.1_Intron	p.A112T	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	396	+	Melanoma(164;0.0171)		112					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.334G>A	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623043	0.66901	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	6.04	3.24	0.37175	.	0.226757	0.36167	N	0.002748	T	0.55417	0.1919	M	0.83312	2.635	0.25831	N	0.984168	D	0.89917	1.0	D	0.97110	1.0	T	0.51403	-0.8710	10	0.87932	D	0	.	3.2114	0.06684	0.1503:0.1377:0.5698:0.1422	.	112	Q9NYW6	TA2R3_HUMAN	T	112	ENSP00000247879:A112T	ENSP00000247879:A112T	A	+	1	0	TAS2R3	141110761	0.973000	0.33851	0.427000	0.26684	0.740000	0.42216	1.678000	0.37586	0.422000	0.26005	0.563000	0.77884	GCC		0.463	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			81	1015	0	0	0	1	0	81	1015					A	141464292	G	A	141464292	3	1	79	1	0	0	0	0	1	0	0	0	15624	1087	38	1	336	1	TAS2R3	7	141464292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34189	141464292	17674371	8957	19274											
TAS2R38	5726	broad.mit.edu	37	chr7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agacagtcagcatcccagaaGaaaccagaaacaataggaaa	8	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	212					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(634-636)tCt>tAt		taste receptor, type 2, member 38							102	109	107					7																	141672855		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672855G>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.635C>A	7.37:g.141672855G>T	ENSP00000448219:p.Ser212Tyr						p.S212Y	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	718	-	Melanoma(164;0.0171)		212					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.635C>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039484	0.35989	.	.	ENSG00000257138	ENST00000547270	T	0.46063	0.88	5.0	4.12	0.48240	.	0.161646	0.41396	D	0.000884	T	0.63768	0.2539	M	0.83223	2.63	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57207	-0.7851	10	0.87932	D	0	.	9.2222	0.37384	0.0978:0.0:0.9022:0.0	.	212	P59533	T2R38_HUMAN	Y	212	ENSP00000448219:S212Y	ENSP00000331291:S212Y	S	-	2	0	TAS2R38	141319324	0.556000	0.26538	0.188000	0.23233	0.343000	0.28985	2.888000	0.48594	1.338000	0.45544	0.655000	0.94253	TCT		0.458	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		50	255	1	0	2.65591e-33	1	3.14676e-33	50	255					T	141672855	G	T	141672855	3	4	79	1	0	0	0	0	1	0	0	0	15627	942	33	3	370	3	TAS2R38	7	141672855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208563	141672855	17465808	8958	19275											
TAS2R38	5726	broad.mit.edu	37	chr7	141673051	141673051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggagcaaagaataaTacccaggagcatctgggaga	13	7	1	2	rs530889921	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141673051T>C	ENST00000547270.1	-	1	522	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	147					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAAAGAATAATACCCAGGAGC	0.478													T|||	4	0.000798722	0.0	0.0	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0041					ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(439-441)Att>Gtt		taste receptor, type 2, member 38							46	44	45					7																	141673051		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673051T>C	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.439A>G	7.37:g.141673051T>C	ENSP00000448219:p.Ile147Val						p.I147V	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	522	-	Melanoma(164;0.0171)		147					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.439A>G	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.407434	0.01155	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	4.7	-1.58	0.08479	.	2.377230	0.02256	N	0.067079	T	0.14013	0.0339	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23084	-1.0198	10	0.02654	T	1	.	3.9799	0.09490	0.1721:0.3174:0.0:0.5105	.	147	P59533	T2R38_HUMAN	V	147	ENSP00000448219:I147V	ENSP00000331291:I147V	I	-	1	0	TAS2R38	141319520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.260000	0.08708	-0.092000	0.12417	-0.408000	0.06270	ATT		0.478	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		6	196	0	0	0	1	0	6	196					C	141673051	T	C	141673051	3	2	79	1	0	0	0	0	1	0	0	0	15627	1406	49	4	566	4	TAS2R38	7	141673051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	141673051	17465612	8959	19276											
TRYX3	136541	broad.mit.edu	37	chr7	141954930	141954930	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcacatggtattttcagaGatagtttggtagggcaggtt	14	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141954930G>A	ENST00000552471.1	-	3	700	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_ENST00000547058.2_Silent_p.I127I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(379-381)atC>atT		protease, serine, 58							251	227	235					7																	141954930		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954930G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.381C>T	7.37:g.141954930G>A						PRSS58_ENST00000547058.2_Silent_p.I127I	p.I127I			Q8IYP2	PRS58_HUMAN			3	700	-			127			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.381C>T	CCDS5871.1																																																																																				0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		134	617	0	0	0	1	0	134	617					A	141954930	G	A	141954930	2	1	79	1	0	0	0	0	0	0	0	1	16657	932	33	2		2	TRYX3	7	141954930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281879	141954930	17183733	8960	19277											
PRSS1	5644	broad.mit.edu	37	chr7	142460283	142460283	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctgatcctcacagcCgactacccagacgagctgca	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000311737.7	+	4	462	c.456C>T	c.(454-456)gcC>gcT	p.A152A	PRSS1_ENST00000486171.1_Splice_Site_p.A166A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	152	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCTCACAGCCGACTACCCAG	0.512																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.e5-1		protease, serine, 1 (trypsin 1)							250	251	251					7																	142460283		2203	4300	6503	SO:0001630	splice_region_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460283C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.455-1C>T	7.37:g.142460283C>T						PRSS1_ENST00000311737.7_Splice_Site_p.A152_splice	p.A166_splice			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	515	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	152			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Splice_Site	SNP	ENST00000311737.7	37	c.496_splice	CCDS5872.1																																																																																				0.512	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		Silent	56	1483	0	0	0	1	0	56	1483					T	142460283	C	T	142460283	5	4	79	1	0	0	0	0	0	0	1	0	12661	666	23	1	470	1	PRSS1	7	142460283	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	505353	142460283	16678380	8961	19278											
PRSS1	5644	broad.mit.edu	37	chr7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaagaacaccatagctgCcaatagctaaagcccccagt	7	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000311737.7	+	5	740	c.734C>T	c.(733-735)gCc>gTc	p.A245V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A259V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACCATAGCTGCCAATAGCTAA	0.488																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(775-777)gCc>gTc		protease, serine, 1 (trypsin 1)							78	79	79					7																	142460861		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460861C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.734C>T	7.37:g.142460861C>T	ENSP00000308720:p.Ala245Val					PRSS1_ENST00000311737.7_Missense_Mutation_p.A245V	p.A259V			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		6	793	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	245					A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.776C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013962	0.19277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88818	-2.43;-2.42	3.18	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);	0.152972	0.64402	D	0.000014	D	0.82674	0.5088	L	0.35644	1.08	0.38549	D	0.949409	B;B	0.18968	0.032;0.032	B;B	0.17098	0.017;0.015	T	0.78548	-0.2162	10	0.59425	D	0.04	.	11.2031	0.48754	0.0:0.8106:0.1894:0.0	.	259;245	E7EQ64;P07477	.;TRY1_HUMAN	V	259;245;235	ENSP00000417854:A259V;ENSP00000308720:A245V	ENSP00000308720:A245V	A	+	2	0	PRSS1	142140435	0.510000	0.26171	0.780000	0.31762	0.016000	0.09150	0.322000	0.19576	0.580000	0.29522	0.195000	0.17529	GCC		0.488	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			56	349	0	0	0	1	0	56	349					T	142460861	C	T	142460861	3	4	79	1	0	0	0	0	1	0	0	0	12661	739	26	2	752	2	PRSS1	7	142460861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	578	142460861	16677802	8962	19279											
PRSS2	154754	broad.mit.edu	37	chr7	142480062	142480062	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcagcaggtcactgctAcaagccgtaagtgtggtgcc	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142480062A>G	ENST00000603901.1	+	0	194					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCACTGCTACAAGCCGTAA	0.572																																						ENST00000603901.1																			0																				29	26	27					7																	142480062		692	1591	2283			0							g.chr7:142480062A>G			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480062A>G								NR_001296.3						0	194	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		37	343	0	0	0	1	0	37	343					G	142480062	A	G	142480062	1	3	79	0	1	0	0	0	0	0	0	0	12664	391	14	4		4	PRSS2	7	142480062	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19201	142480062	16658601	8963	19280											
EPHB6	2051	broad.mit.edu	37	chr7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggccacggcccctacgGgggcaaagtctatttccaga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	572	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1714-1716)gGg>gAg		EPH receptor B6							36	39	38					7																	142564791		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564791G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1715G>A	7.37:g.142564791G>A	ENSP00000376684:p.Gly572Glu					EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	p.G572E	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			11	2502	+	Melanoma(164;0.059)		572			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1715G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878146	0.91664	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53640	0.61;0.61;0.61	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	T	0.66577	0.2803	M	0.62723	1.935	0.46458	D	0.999051	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.9	T	0.70132	-0.4956	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	572;295	O15197;O15197-2	EPHB6_HUMAN;.	E	572;572;295	ENSP00000376684:G572E;ENSP00000410789:G572E;ENSP00000409061:G295E	ENSP00000376684:G572E	G	+	2	0	EPHB6	142274913	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.395000	0.97266	2.368000	0.80403	0.555000	0.69702	GGG		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			71	303	0	0	0	1	0	71	303					A	142564791	G	A	142564791	3	1	79	1	0	0	0	0	1	0	0	0	5196	1232	43	2	1741	2	EPHB6	7	142564791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84729	142564791	16573872	8964	19281											
EPHB6	2051	broad.mit.edu	37	chr7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtacctgtccagctTtgccttcgtccatcgctcgc	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2365-2367)tTt>tGt		EPH receptor B6							66	56	60					7																	142566809		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566809T>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2366T>G	7.37:g.142566809T>G	ENSP00000376684:p.Phe789Cys					EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	p.F789C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			16	3153	+	Melanoma(164;0.059)		789			Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2366T>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486867	0.44249	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82526	-1.62;-1.62;-1.62	5.56	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144593	0.32533	N	0.005977	T	0.67192	0.2867	N	0.05199	-0.095	0.37223	D	0.905338	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.69165	-0.5217	10	0.66056	D	0.02	.	12.7526	0.57316	0.0:0.0:0.1672:0.8328	.	789;512	O15197;O15197-2	EPHB6_HUMAN;.	C	789;789;512	ENSP00000376684:F789C;ENSP00000410789:F789C;ENSP00000409061:F512C	ENSP00000376684:F789C	F	+	2	0	EPHB6	142276931	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.210000	0.58500	2.112000	0.64535	0.379000	0.24179	TTT		0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			31	200	0	0	0	1	0	31	200					G	142566809	T	G	142566809	3	3	79	1	0	0	0	0	1	0	0	0	5196	1841	64	4	2412	4	EPHB6	7	142566809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2018	142566809	16571854	8965	19282											
TRPV6	55503	broad.mit.edu	37	chr7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcatctggaatcctcgggCgaagtacatgacgttgcacc	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	469					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AATCCTCGGGCGAAGTACATG	0.592																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1405-1407)Gcc>Acc		transient receptor potential cation channel, subfamily V, member 6							126	119	121					7																	142572291		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572291C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1405G>A	7.37:g.142572291C>T	ENSP00000352358:p.Ala469Thr						p.A469T	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			11	1650	-	Melanoma(164;0.059)		469					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1405G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635558	0.67130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85955	-2.05;-2.05	4.32	3.43	0.39272	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	L	0.35487	1.065	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	T	0.77239	-0.2661	10	0.10377	T	0.69	-24.1663	11.7795	0.52006	0.0:0.9133:0.0:0.0867	.	469	Q9H1D0	TRPV6_HUMAN	T	469;301;92	ENSP00000352358:A469T;ENSP00000411100:A92T	ENSP00000310825:A301T	A	-	1	0	TRPV6	142282413	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.616000	0.83018	1.175000	0.42826	0.561000	0.74099	GCC		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		69	389	0	0	0	1	0	69	389					T	142572291	C	T	142572291	3	4	79	1	0	0	0	0	1	0	0	0	16653	768	27	1	792	1	TRPV6	7	142572291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5482	142572291	16566372	8966	19283											
TRPV6	55503	broad.mit.edu	37	chr7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttctggttcacaacagCgatgtgcagtgcagtctgac	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(370-372)Gct>Act		transient receptor potential cation channel, subfamily V, member 6							86	80	82					7																	142575012		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575012C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.370G>A	7.37:g.142575012C>T	ENSP00000352358:p.Ala124Thr					RP11-114L10.2_ENST00000438839.1_RNA	p.A124T	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			4	615	-	Melanoma(164;0.059)		124					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.370G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227596	0.79576	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	D;T	0.81996	-1.56;-1.43	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.053052	0.85682	D	0.000000	D	0.91942	0.7448	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.93893	0.7181	10	0.72032	D	0.01	-12.2989	14.9814	0.71313	0.0:1.0:0.0:0.0	.	124	Q9H1D0	TRPV6_HUMAN	T	124;51	ENSP00000352358:A124T;ENSP00000415917:A51T	ENSP00000352358:A124T	A	-	1	0	TRPV6	142285134	1.000000	0.71417	0.550000	0.28217	0.993000	0.82548	7.209000	0.77916	1.995000	0.58328	0.655000	0.94253	GCT		0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		56	362	0	0	0	1	0	56	362					T	142575012	C	T	142575012	3	4	79	1	0	0	0	0	1	0	0	0	16653	768	27	1	1855	1	TRPV6	7	142575012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2721	142575012	16563651	8967	19284											
KEL	3792	broad.mit.edu	37	chr7	142651023	142651023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcaagcaggacaaccaGtcgatggcgggggccatttc	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(943-945)gaC>gaT		Kell blood group, metallo-endopeptidase							100	95	97					7																	142651023		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651023G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.945C>T	7.37:g.142651023G>A						KEL_ENST00000479768.2_5'UTR	p.D315D	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1419	-	Melanoma(164;0.059)		315					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.945C>T	CCDS34766.1																																																																																				0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		59	548	0	0	0	1	0	59	548					A	142651023	G	A	142651023	2	1	79	1	0	0	0	0	0	0	0	1	8172	1020	36	2		2	KEL	7	142651023	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76011	142651023	16487640	8968	19285											
KEL	3792	broad.mit.edu	37	chr7	142655466	142655466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcaggagttgtagaaCtggaaggctttctcctcccc	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	150					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(448-450)caG>caA		Kell blood group, metallo-endopeptidase							83	77	79					7																	142655466		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655466C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.450G>A	7.37:g.142655466C>T						KEL_ENST00000479768.2_5'UTR	p.Q150Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			5	924	-	Melanoma(164;0.059)		150					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.450G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616103	0.14129	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.82	-11.6	0.00059	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.45015	D	0.998033	.	.	.	.	.	.	T	0.61212	-0.7108	4	.	.	.	-5.1862	10.7615	0.46268	0.0:0.5237:0.3217:0.1546	.	.	.	.	I	161	.	.	V	-	1	0	KEL	142365588	0.006000	0.16342	0.424000	0.26647	0.825000	0.46686	-1.360000	0.02600	-1.456000	0.01921	-0.225000	0.12378	GTT		0.468	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		33	241	0	0	0	1	0	33	241					T	142655466	C	T	142655466	2	4	79	1	0	0	0	0	0	0	0	1	8172	564	20	2		2	KEL	7	142655466	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4443	142655466	16483197	8969	19286											
TAS2R40	259286	broad.mit.edu	37	chr7	142920107	142920107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaagcggtttcagcaCcaagttcctctttacctaaa	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	312					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)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(934-936)caC>caT		taste receptor, type 2, member 40							53	52	52					7																	142920107		1895	4136	6031	SO:0001819	synonymous_variant	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142920107C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.936C>T	7.37:g.142920107C>T							p.H312H	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	978	+	Melanoma(164;0.059)		312					A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	c.936C>T	CCDS43662.1																																																																																				0.537	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			67	249	0	0	0	1	0	67	249					T	142920107	C	T	142920107	2	4	79	1	0	0	0	0	0	0	0	1	15630	506	18	2		2	TAS2R40	7	142920107	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264641	142920107	16218556	8970	19287											
CASP2	835	broad.mit.edu	37	chr7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagacaataaagatggtcCtgtctgccttcaggtgaagc	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	171					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(511-513)cCt>cAt		caspase 2, apoptosis-related cysteine peptidase							162	163	163					7																	142991359		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142991359C>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.512C>A	7.37:g.142991359C>A	ENSP00000312664:p.Pro171His					CASP2_ENST00000493642.1_3'UTR	p.P171H	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			5	753	+	Melanoma(164;0.059)		171					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.512C>A	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583897	0.86748	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.02103	4.45	5.78	5.78	0.91487	.	0.250574	0.43747	D	0.000528	T	0.09247	0.0228	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.01090	-1.1455	10	0.48119	T	0.1	.	18.246	0.89986	0.0:1.0:0.0:0.0	.	171	P42575	CASP2_HUMAN	H	171;140	ENSP00000312664:P171H	ENSP00000312664:P171H	P	+	2	0	CASP2	142701481	0.999000	0.42202	0.993000	0.49108	0.923000	0.55619	6.030000	0.70903	2.752000	0.94435	0.555000	0.69702	CCT		0.383	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		91	439	1	0	1.04553e-52	1	1.30113e-52	91	439					A	142991359	C	A	142991359	3	1	79	1	0	0	0	0	1	0	0	0	2678	681	24	3	530	3	CASP2	7	142991359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71252	142991359	16147304	8971	19288											
CASP2	835	broad.mit.edu	37	chr7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggttgcagggactgccGccatgcggaacaccaaacga	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1126-1128)Gcc>Acc		caspase 2, apoptosis-related cysteine peptidase							164	140	148					7																	143001775		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143001775G>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1126G>A	7.37:g.143001775G>A	ENSP00000312664:p.Ala376Thr					CASP2_ENST00000493642.1_3'UTR	p.A376T	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			10	1367	+	Melanoma(164;0.059)		376					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.1126G>A	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	CASP2	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC		0.537	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		68	466	0	0	0	1	0	68	466					A	143001775	G	A	143001775	3	1	79	1	0	0	0	0	1	0	0	0	2678	1087	38	1	1164	1	CASP2	7	143001775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10416	143001775	16136888	8972	19289											
FAM131B	9715	broad.mit.edu	37	chr7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacgtcagacaccttccGgctgagagcggtagacatct	12	11	2	4	rs534174916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(928-930)Cgg>Tgg		family with sequence similarity 131, member B							172	152	159					7																	143053714		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143053714G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.928C>T	7.37:g.143053714G>A	ENSP00000387017:p.Arg310Trp					FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W	p.R310W			Q86XD5	F131B_HUMAN			6	2636	-	Melanoma(164;0.205)		310					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.928C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960051	0.74016	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.81	2.9	0.33743	.	0.131595	0.52532	D	0.000072	T	0.60418	0.2267	M	0.61703	1.905	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.65681	-0.6109	10	0.87932	D	0	-22.6696	15.1848	0.72993	0.0:0.0:0.6325:0.3675	.	326;310	Q86XD5-2;Q86XD5	.;F131B_HUMAN	W	338;326;310;314;310;310	ENSP00000410603:R338W;ENSP00000386568:R326W;ENSP00000386984:R310W;ENSP00000387017:R310W;ENSP00000387147:R310W	ENSP00000387147:R310W	R	-	1	2	FAM131B	142763836	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.229000	0.51278	0.775000	0.33450	-0.169000	0.13324	CGG		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		80	925	0	0	0	1	0	80	925					A	143053714	G	A	143053714	3	1	79	1	0	0	0	0	1	0	0	0	5461	1115	39	1	74	1	FAM131B	7	143053714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51939	143053714	16084949	8973	19290											
ZYX	7791	broad.mit.edu	37	chr7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T													catttccccctgcgcctctgGaggaggagatcttcccttcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(328-330)Gag>Tag		zyxin							18	20	20					7																	143079460		2203	4300	6503	SO:0001587	stop_gained	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079460G>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.328G>T	7.37:g.143079460G>T	ENSP00000324422:p.Glu110*					ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*	p.E110*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			3	673	+	Melanoma(164;0.205)		110					A4D2G6|Q6I9S4	Nonsense_Mutation	SNP	ENST00000322764.5	37	c.328G>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	39	7.639934	0.98406	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	.	.	.	3.41	2.47	0.30058	.	1.454090	0.04456	N	0.373560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.4854	0.38926	0.0:0.0:0.7876:0.2124	.	.	.	.	X	110;79;110;109;54	.	ENSP00000324422:E110X	E	+	1	0	ZYX	142789582	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.334000	0.65923	0.558000	0.29135	0.561000	0.74099	GAG		0.701	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		10	118	1	0	9.70103e-10	1	1.02402e-09	10	118					T	143079460	G	T	143079460	4	4	79	1	0	0	0	0	0	1	0	0	18307	1175	41	3	334	3	ZYX	7	143079460	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25746	143079460	16059203	8974	19291	116	2									
ZYX	7791	broad.mit.edu	37	chr7	143079468	143079468	+	Silent	SNP	G	G	A													cctgcgcctctggaggaggaGatcttcccttccccgccgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	112					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGAGGAGGAGATCTTCCCTT	0.706																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(334-336)gaG>gaA		zyxin							18	19	19					7																	143079468		2203	4297	6500	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079468G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.336G>A	7.37:g.143079468G>A						ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E	p.E112E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			3	681	+	Melanoma(164;0.205)		112					A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.336G>A	CCDS5883.1																																																																																				0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		7	117	0	0	0	1	0	7	117					A	143079468	G	A	143079468	2	1	79	1	0	0	0	0	0	0	0	1	18307	933	33	2		2	ZYX	7	143079468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	143079468	16059195	8975	19292	116	2									
ZYX	7791	broad.mit.edu	37	chr7	143085748	143085748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtactgcgagggctgttaCactgtgagtcgggctgtgct	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000449423.2_Silent_p.Y350Y|ZYX_ENST00000392910.2_Silent_p.Y280Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	437	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGGGCTGTTACACTGTGAGTC	0.657																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1309-1311)taC>taT		zyxin							66	69	68					7																	143085748		2203	4300	6503	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085748C>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1311C>T	7.37:g.143085748C>T						ZYX_ENST00000392910.2_Silent_p.Y280Y|ZYX_ENST00000449423.2_Silent_p.Y350Y	p.Y437Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			7	1656	+	Melanoma(164;0.205)		437			LIM zinc-binding 1.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1311C>T	CCDS5883.1																																																																																				0.657	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		11	372	0	0	0	1	0	11	372					T	143085748	C	T	143085748	2	4	79	1	0	0	0	0	0	0	0	1	18307	489	17	2		2	ZYX	7	143085748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6280	143085748	16052915	8976	19293											
EPHA1	2041	broad.mit.edu	37	chr7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatccctgaatactgcaaaGaatgcgcttctggtgcccgg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	968	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATACTGCAAAGAATGCGCTTC	0.612																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2902-2904)Ctt>Att		EPH receptor A1							95	61	73					7																	143088579		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088579G>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2902C>A	7.37:g.143088579G>T	ENSP00000275815:p.Leu968Ile						p.L968I	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			18	2988	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	968			SAM.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2902C>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557575	0.65425	.	.	ENSG00000146904	ENST00000275815	T	0.57907	0.37	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000084	T	0.60405	0.2266	L	0.49126	1.545	0.45025	D	0.99804	D	0.57571	0.98	P	0.55577	0.779	T	0.59648	-0.7415	10	0.48119	T	0.1	.	14.2692	0.66140	0.0729:0.0:0.9271:0.0	.	968	P21709	EPHA1_HUMAN	I	968	ENSP00000275815:L968I	ENSP00000275815:L968I	L	-	1	0	EPHA1	142798701	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.626000	0.46460	2.724000	0.93272	0.561000	0.74099	CTT		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			32	152	1	0	8.4185e-14	1	9.11178e-14	32	152					T	143088579	G	T	143088579	3	4	79	1	0	0	0	0	1	0	0	0	5183	942	33	3	32	3	EPHA1	7	143088579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	143088579	16050084	8977	19294											
EPHA1	2041	broad.mit.edu	37	chr7	143091949	143091949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggcgagtcaggccAaagtcagacaccttgcagca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAGTCAGGCCAAAGTCAGACA	0.512																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2302-2304)ttT>ttC		EPH receptor A1							127	116	120					7																	143091949		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091949A>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2304T>C	7.37:g.143091949A>G							p.F768F	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			14	2390	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	768			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2304T>C	CCDS5884.1																																																																																				0.512	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			48	253	0	0	0	1	0	48	253					G	143091949	A	G	143091949	2	3	79	1	0	0	0	0	0	0	0	1	5183	127	5	4		4	EPHA1	7	143091949	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3370	143091949	16046714	8978	19295											
EPHA1	2041	broad.mit.edu	37	chr7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctcacagtggcaccGtcctacaggcaccagccact	10	17	1	0	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(781-783)Cgg>Tgg		EPH receptor A1		G	TRP/ARG	3,4403	4.2+/-10.8	0,3,2200	39	43	42		781	2.2	0	7	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHA1	NM_005232.4	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	261/977	143096798	4,13002	2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096798G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.781C>T	7.37:g.143096798G>A	ENSP00000275815:p.Arg261Trp						p.R261W	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	867	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	261			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.781C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288654	0.59976	6.81E-4	1.16E-4	ENSG00000146904	ENST00000275815	D	0.97430	-4.38	5.22	2.17	0.27698	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.651298	0.14092	N	0.341931	D	0.96306	0.8795	M	0.78916	2.43	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	D	0.90797	0.4691	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.4721:0.5279	.	261	P21709	EPHA1_HUMAN	W	261	ENSP00000275815:R261W	ENSP00000275815:R261W	R	-	1	2	EPHA1	142806920	0.258000	0.24033	0.046000	0.18839	0.924000	0.55760	3.072000	0.50049	0.697000	0.31718	0.655000	0.94253	CGG		0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			68	271	0	0	0	1	0	68	271					A	143096798	G	A	143096798	3	1	79	1	0	0	0	0	1	0	0	0	5183	1144	40	1	2209	1	EPHA1	7	143096798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4849	143096798	16041865	8979	19296											
EPHA1	2041	broad.mit.edu	37	chr7	143098600	143098600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcggtagatccaattGgagcgaagccagtggtcagt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	83	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(247-249)tcC>tcT		EPH receptor A1							154	145	148					7																	143098600		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098600G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.249C>T	7.37:g.143098600G>A							p.S83S	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			3	335	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	83					A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.249C>T	CCDS5884.1																																																																																				0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			227	948	0	0	0	1	0	227	948					A	143098600	G	A	143098600	2	1	79	1	0	0	0	0	0	0	0	1	5183	1335	47	2		2	EPHA1	7	143098600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1802	143098600	16040063	8980	19297											
TAS2R60	338398	broad.mit.edu	37	chr7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttactccttttacgcctgGtagcaatagcaggcaatggc	9	10	0	0	rs199511246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	30					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(88-90)Gta>Ata		taste receptor, type 2, member 60							243	221	228					7																	143140633		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140633G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.88G>A	7.37:g.143140633G>A	ENSP00000327724:p.Val30Ile					EPHA1-AS1_ENST00000429289.1_RNA	p.V30I	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	88	+	Melanoma(164;0.172)		30					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.88G>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989567	0.18966	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.68	0.57	0.17347	.	0.678333	0.13091	U	0.414543	T	0.24624	0.0597	L	0.28504	0.86	0.09310	N	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.23797	-1.0178	10	0.08381	T	0.77	.	1.7473	0.02964	0.2404:0.1384:0.4789:0.1424	.	30	P59551	T2R60_HUMAN	I	30	ENSP00000327724:V30I	ENSP00000327724:V30I	V	+	1	0	TAS2R60	142850755	0.034000	0.19679	0.022000	0.16811	0.019000	0.09904	0.535000	0.23114	0.045000	0.15804	0.655000	0.94253	GTA		0.488	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			55	730	0	0	0	1	0	55	730					A	143140633	G	A	143140633	3	1	79	1	0	0	0	0	1	0	0	0	15637	1261	44	2	90	2	TAS2R60	7	143140633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	143140633	15998030	8981	19298											
TAS2R41	259287	broad.mit.edu	37	chr7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtactctgggggtctcGgccgacagttcttccatcta	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(241-243)Ggc>Agc		taste receptor, type 2, member 41							105	105	105					7																	143175206		2003	4165	6168	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175206G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.241G>A	7.37:g.143175206G>A	ENSP00000386201:p.Gly81Ser					EPHA1-AS1_ENST00000429289.1_RNA	p.G81S	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	241	+	Melanoma(164;0.15)		81					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.241G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103716	0.06967	.	.	ENSG00000221855	ENST00000408916	T	0.39406	1.08	5.76	-0.794	0.10918	.	1.412690	0.04793	N	0.432118	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16958	-1.0385	10	0.08381	T	0.77	.	6.6835	0.23132	0.1486:0.0:0.5337:0.3176	.	81	P59536	T2R41_HUMAN	S	81	ENSP00000386201:G81S	ENSP00000386201:G81S	G	+	1	0	TAS2R41	142885328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.585000	0.05794	-0.138000	0.11434	-2.610000	0.00160	GGC		0.542	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			69	356	0	0	0	1	0	69	356					A	143175206	G	A	143175206	3	1	79	1	0	0	0	0	1	0	0	0	15631	1116	39	1	243	1	TAS2R41	7	143175206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34573	143175206	15963457	8982	19299											
TAS2R41	259287	broad.mit.edu	37	chr7	143175313	143175313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgctaacatcacacaCtccaccttcctgtggctgaa	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(346-348)caC>caT		taste receptor, type 2, member 41							78	77	77					7																	143175313		2001	4174	6175	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175313C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.348C>T	7.37:g.143175313C>T						EPHA1-AS1_ENST00000429289.1_RNA	p.H116H	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	348	+	Melanoma(164;0.15)		116					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.348C>T	CCDS43663.1																																																																																				0.517	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	272	0	0	0	1	0	20	272					T	143175313	C	T	143175313	2	4	79	1	0	0	0	0	0	0	0	1	15631	564	20	2		2	TAS2R41	7	143175313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	143175313	15963350	8983	19300											
OR2F2	135948	broad.mit.edu	37	chr7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtatttctttctcaccaAcctctcccttgtcgatgtct	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(193-195)aAc>aGc		olfactory receptor, family 2, subfamily F, member 2							245	237	240					7																	143632519		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632519A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.194A>G	7.37:g.143632519A>G	ENSP00000386222:p.Asn65Ser						p.N65S	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	261	+	Melanoma(164;0.0903)		65					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.194A>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927836	0.52759	.	.	ENSG00000221910	ENST00000408955	T	0.01963	4.53	3.49	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.04724	0.0128	M	0.66939	2.045	0.31028	N	0.717781	D	0.54772	0.968	P	0.49140	0.601	T	0.09164	-1.0687	10	0.66056	D	0.02	-26.1493	6.8745	0.24139	0.883:0.0:0.117:0.0	.	65	O95006	OR2F2_HUMAN	S	65	ENSP00000386222:N65S	ENSP00000386222:N65S	N	+	2	0	OR2F2	143263452	0.998000	0.40836	0.991000	0.47740	0.888000	0.51559	4.936000	0.63506	0.527000	0.28560	0.402000	0.26972	AAC		0.507	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			214	1028	0	0	0	1	0	214	1028					G	143632519	A	G	143632519	3	3	79	1	0	0	0	0	1	0	0	0	11039	43	2	4	196	4	OR2F2	7	143632519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	457206	143632519	15506144	8984	19301											
OR2F1	26211	broad.mit.edu	37	chr7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagatccagtccagagaAggaagaaagaaagctttcca	9	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	232					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(694-696)gaA>gaC		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							183	159	167					7																	143657759		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657759A>C	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.696A>C	7.37:g.143657759A>C	ENSP00000376633:p.Glu232Asp						p.E232D	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	733	+	Melanoma(164;0.0903)		232					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.696A>C	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660959	0.29515	.	.	ENSG00000213215	ENST00000392899	T	0.00342	8.03	5.53	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.114861	0.39146	N	0.001454	T	0.00271	0.0008	L	0.52266	1.64	0.26943	N	0.966205	B	0.17465	0.022	B	0.25140	0.058	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.8499	8.3184	0.32115	0.3484:0.0:0.6516:0.0	.	232	Q13607	OR2F1_HUMAN	D	232	ENSP00000376633:E232D	ENSP00000376633:E232D	E	+	3	2	OR2F1	143288692	0.210000	0.23517	0.478000	0.27316	0.534000	0.34807	0.034000	0.13776	0.115000	0.18071	-0.132000	0.14878	GAA		0.493	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			89	332	0	0	0	1	0	89	332					C	143657759	A	C	143657759	3	2	79	1	0	0	0	0	1	0	0	0	11038	69	3	4	698	4	OR2F1	7	143657759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25240	143657759	15480904	8985	19302											
OR6B1	135946	broad.mit.edu	37	chr7	143701395	143701395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtatgatacaactgtaCttcttcattgctctcatgtg	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(304-306)taC>taT		olfactory receptor, family 6, subfamily B, member 1							158	158	158					7																	143701395		2149	4276	6425	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701395C>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.306C>T	7.37:g.143701395C>T							p.Y102Y	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	374	+	Melanoma(164;0.0783)		102					A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.306C>T	CCDS43667.1																																																																																				0.478	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			115	517	0	0	0	1	0	115	517					T	143701395	C	T	143701395	2	4	79	1	0	0	0	0	0	0	0	1	11229	576	20	2		2	OR6B1	7	143701395	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43636	143701395	15437268	8986	19303											
OR2A25	392138	broad.mit.edu	37	chr7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagaggggtgccagaAagccttctccatctgctcct	12	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(703-705)aAa>aCa		olfactory receptor, family 2, subfamily A, member 25							112	121	118					7																	143772016		2163	4294	6457	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772016A>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.704A>C	7.37:g.143772016A>C	ENSP00000386167:p.Lys235Thr						p.K235T	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	742	+	Melanoma(164;0.0783)		235					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.704A>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763942	0.49574	.	.	ENSG00000221933	ENST00000408898	T	0.00375	7.71	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01695	0.0054	H	0.97023	3.925	0.43745	D	0.996242	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	9	0.87932	D	0	-6.4599	12.4196	0.55512	1.0:0.0:0.0:0.0	.	235	A4D2G3	O2A25_HUMAN	T	235	ENSP00000386167:K235T	ENSP00000386167:K235T	K	+	2	0	OR2A25	143402949	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.003000	0.76310	2.030000	0.59900	0.460000	0.39030	AAA		0.493	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			107	452	0	0	0	1	0	107	452					C	143772016	A	C	143772016	3	2	79	1	0	0	0	0	1	0	0	0	11020	14	1	4	706	4	OR2A25	7	143772016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70621	143772016	15366647	8987	19304											
OR2A12	346525	broad.mit.edu	37	chr7	143792476	143792476	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacaaaaaagtcatctcCtttgctccttgcatacttca	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(274-276)tcC>tcA		olfactory receptor, family 2, subfamily A, member 12							129	118	122					7																	143792476		2031	4202	6233	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792476C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.276C>A	7.37:g.143792476C>A							p.S92S	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	336	+	Melanoma(164;0.0783)		92					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.276C>A	CCDS43670.1																																																																																				0.428	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			70	298	1	0	9.4991e-31	1	1.11549e-30	70	298					A	143792476	C	A	143792476	2	1	79	1	0	0	0	0	0	0	0	1	11017	668	24	3		3	OR2A12	7	143792476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20460	143792476	15346187	8988	19305											
OR2A2	442361	broad.mit.edu	37	chr7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttggtccagcactgGcgattctcctctgtggactc	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(67-69)Gcg>Acg		olfactory receptor, family 2, subfamily A, member 2							141	137	138					7																	143806742		2003	4194	6197	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806742G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.67G>A	7.37:g.143806742G>A	ENSP00000386209:p.Ala23Thr						p.A23T	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	136	+	Melanoma(164;0.0783)		23					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.67G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513049	0.27123	.	.	ENSG00000221989	ENST00000408979	T	0.00438	7.42	3.5	1.64	0.23874	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	9	0.66056	D	0.02	.	3.436	0.07446	0.2475:0.2198:0.5326:0.0	.	23	Q6IF42	OR2A2_HUMAN	T	23	ENSP00000386209:A23T	ENSP00000386209:A23T	A	+	1	0	OR2A2	143437675	0.000000	0.05858	0.050000	0.19076	0.033000	0.12548	-0.007000	0.12810	0.802000	0.34089	0.609000	0.83330	GCG		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			81	460	0	0	0	1	0	81	460					A	143806742	G	A	143806742	3	1	79	1	0	0	0	0	1	0	0	0	11019	1203	42	2	69	2	OR2A2	7	143806742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14266	143806742	15331921	8989	19306											
OR2A7	401427	broad.mit.edu	37	chr7	143956692	143956692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatcccagtaggaggaaCtctgtgatggatgttatatt	12	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(28-30)gaG>gaA		olfactory receptor, family 2, subfamily A, member 7							116	149	138					7																	143956692		2202	4300	6502	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956692C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.30G>A	7.37:g.143956692C>T						RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	p.E10E	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	123	-	Melanoma(164;0.14)		10					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.30G>A	CCDS55177.1																																																																																				0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			81	1685	0	0	0	1	0	81	1685					T	143956692	C	T	143956692	2	4	79	1	0	0	0	0	0	0	0	1	11024	564	20	2		2	OR2A7	7	143956692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149950	143956692	15181971	8990	19307											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060720	144060720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctcagggtcagggaggtCcagaacagggagaagagagg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	ENST00000056217.5	+	2	1132	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	320					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCAGGGAGGTCCAGAACAGGG	0.542																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(958-960)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 5							62	56	58					7																	144060720		1475	3022	4497	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060720C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.958C>T	7.37:g.144060720C>T	ENSP00000056217:p.Pro320Ser						p.P320S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1132	+	Melanoma(164;0.14)		320					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.958C>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	4.789	0.146640	0.09134	.	.	ENSG00000050327	ENST00000056217	T	0.71698	-0.59	4.05	2.07	0.26955	.	2.529770	0.02386	U	0.079234	T	0.57359	0.2048	N	0.24115	0.695	0.20764	N	0.999857	B	0.11235	0.004	B	0.14023	0.01	T	0.39881	-0.9592	9	.	.	.	3.0887	6.5054	0.22192	0.0:0.7041:0.1844:0.1116	.	320	Q12774	ARHG5_HUMAN	S	320	ENSP00000056217:P320S	.	P	+	1	0	ARHGEF5	143691653	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-0.155000	0.10115	0.883000	0.36040	0.555000	0.69702	CCA		0.542	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		77	953	0	0	0	1	0	77	953					T	144060720	C	T	144060720	3	4	79	1	0	0	0	0	1	0	0	0	909	855	30	2	960	2	ARHGEF5	7	144060720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104028	144060720	15077943	8991	19308											
ARHGEF5	7984	broad.mit.edu	37	chr7	144061097	144061097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggctgaggaactgtcCcccgcagctctgtctccctc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	445					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTGTCCCCCGCAGCTC	0.562																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1333-1335)tcC>tcT		Rho guanine nucleotide exchange factor (GEF) 5							15	15	15					7																	144061097		1741	3333	5074	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144061097C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1335C>T	7.37:g.144061097C>T							p.S445S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1509	+	Melanoma(164;0.14)		445					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1335C>T	CCDS34771.1																																																																																				0.562	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		16	260	0	0	0	1	0	16	260					T	144061097	C	T	144061097	2	4	79	1	0	0	0	0	0	0	0	1	909	610	22	2		2	ARHGEF5	7	144061097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	144061097	15077566	8992	19309											
ARHGEF5	7984	broad.mit.edu	37	chr7	144068362	144068362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccacactttccaaccagGagcaccaatggctcttctct	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144068362G>A	ENST00000056217.5	+	6	3814	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAACCAGGAGCACCAATG	0.517																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3640-3642)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 5							45	45	45					7																	144068362		2200	4275	6475	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144068362G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3640G>A	7.37:g.144068362G>A	ENSP00000056217:p.Glu1214Lys					ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	p.E1214K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			6	3814	+	Melanoma(164;0.14)		1214			DH.		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.3640G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156157	0.94686	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.66099	-0.19;-0.19	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.379579	0.27402	N	0.019536	T	0.71779	0.3380	M	0.85630	2.765	0.48395	D	0.999646	B;P	0.47484	0.101;0.896	B;P	0.46510	0.216;0.519	T	0.78703	-0.2101	10	0.66056	D	0.02	-0.9488	15.6627	0.77199	0.0:0.0:1.0:0.0	.	69;1214	B3KQX6;Q12774	.;ARHG5_HUMAN	K	1214;69;136	ENSP00000056217:E1214K;ENSP00000418227:E136K	ENSP00000056217:E1214K	E	+	1	0	ARHGEF5	143699295	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.340000	0.79292	2.376000	0.81061	0.555000	0.69702	GAG		0.517	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		32	669	0	0	0	1	0	32	669					A	144068362	G	A	144068362	3	1	79	1	0	0	0	0	1	0	0	0	909	1175	41	2	3658	2	ARHGEF5	7	144068362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7265	144068362	15070301	8993	19310											
NOBOX	135935	broad.mit.edu	37	chr7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccctttaccatgatgCgctggggggtcacccccacc	11	18	1	1	rs199740315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	315					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(943-945)cGc>cAc		NOBOX oogenesis homeobox		C	HIS/ARG	2,3832		0,2,1915	62	62	62		944	5.7	1	7		62	1,8233		0,1,4116	yes	missense	NOBOX	NM_001080413.3	29	0,3,6031	TT,TC,CC		0.0121,0.0522,0.0249	probably-damaging	315/692	144097306	3,12065	1917	4117	6034	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097306C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.944G>A	7.37:g.144097306C>T	ENSP00000419457:p.Arg315His					NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	943	-	Melanoma(164;0.14)		315					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.944G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433226	0.83776	5.22E-4	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96459	-4.02;-4.02;-4.02	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.066452	0.53938	D	0.000057	D	0.98169	0.9395	M	0.83603	2.65	0.43930	D	0.996589	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	-27.6213	17.2787	0.87122	0.0:1.0:0.0:0.0	.	315	O60393	NOBOX_HUMAN	H	315;315;230;104	ENSP00000419565:R315H;ENSP00000419457:R315H;ENSP00000223140:R230H	ENSP00000223140:R230H	R	-	2	0	NOBOX	143728239	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	5.277000	0.65586	2.671000	0.90904	0.650000	0.86243	CGC		0.587	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		65	298	0	0	0	1	0	65	298					T	144097306	C	T	144097306	3	4	79	1	0	0	0	0	1	0	0	0	10554	768	27	1	1059	1	NOBOX	7	144097306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28944	144097306	15041357	8994	19311											
TPK1	27010	broad.mit.edu	37	chr7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatctggtcaaaacgcccaGcaaggcctcccagtgtcacg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000360057.3	-	7	488	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_ENST00000549981.1_Missense_Mutation_p.A12V|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	129					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000549981.1																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(34-36)gCt>gTt		thiamin pyrophosphokinase 1	Thiamine(DB00152)						89	87	88					7																	144288631		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144288631G>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.386C>T	7.37:g.144288631G>A	ENSP00000353165:p.Ala129Val					TPK1_ENST00000360057.3_Missense_Mutation_p.A129V|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	p.A12V			Q9H3S4	TPK1_HUMAN			9	758	-			129					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.35C>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631484	0.46944	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82711	-1.64;-1.64	5.78	0.307	0.15811	Thiamin pyrophosphokinase, catalytic domain (3);	0.349077	0.31134	N	0.008191	T	0.80177	0.4575	M	0.71581	2.175	0.09310	N	1	P	0.44478	0.836	B	0.34452	0.183	T	0.75365	-0.3343	10	0.87932	D	0	-2.8133	19.4398	0.94813	0.0:0.7357:0.2643:0.0	.	129	Q9H3S4	TPK1_HUMAN	V	129;12;129	ENSP00000353165:A129V;ENSP00000448655:A129V	ENSP00000353165:A129V	A	-	2	0	TPK1	143919564	0.033000	0.19621	0.018000	0.16275	0.912000	0.54170	0.557000	0.23454	0.048000	0.15891	0.655000	0.94253	GCT		0.408	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		69	307	0	0	0	1	0	69	307					A	144288631	G	A	144288631	3	1	79	1	0	0	0	0	1	0	0	0	16457	971	34	2	357	2	TPK1	7	144288631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191325	144288631	14850032	8995	19312											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctctggactcccccatGtggctttcagcagctcctcc	8	16	2	0	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	46	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)			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)			ACTCCCCCATGTGGCTTTCAG	0.438										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(136-138)Gtg>Atg		contactin associated protein-like 2		G	MET/VAL	9,4397	15.5+/-35.6	0,9,2194	74	72	72		136	1.7	0	7	dbSNP_134	72	0,8600		0,0,4300	yes	missense	CNTNAP2	NM_014141.5	21	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	46/1332	146471401	9,12997	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.chr7:146471401G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.136G>A	7.37:g.146471401G>A	ENSP00000354778:p.Val46Met	HNSCC(39;0.1)					p.V46M	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	652	+	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)	46			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.136G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597235	0.13875	0.002043	0.0	ENSG00000174469	ENST00000361727	D	0.97186	-4.28	5.74	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	1.629630	0.04097	N	0.312269	D	0.91962	0.7454	N	0.16368	0.405	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.82900	-0.0228	10	0.36615	T	0.2	.	2.1205	0.03724	0.1681:0.2845:0.401:0.1463	.	46	Q9UHC6	CNTP2_HUMAN	M	46	ENSP00000354778:V46M	ENSP00000354778:V46M	V	+	1	0	CNTNAP2	146102334	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	0.138000	0.16016	0.029000	0.15352	0.650000	0.86243	GTG		0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			22	152	0	0	0	1	0	22	152					A	146471401	G	A	146471401	3	1	79	1	0	0	0	0	1	0	0	0	3656	1377	48	2	142	2	CNTNAP2	7	146471401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2182770	146471401	12667262	8996	19313											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgaccattatcaatgGcttcaggttgactttggcaa	10	9	2	1	rs267601384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	84	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)			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)			ATTATCAATGGCTTCAGGTTG	0.463										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(250-252)tgG>tgA		contactin associated protein-like 2							90	78	82					7																	146536846		2203	4300	6503	SO:0001587	stop_gained	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.chr7:146536846G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.252G>A	7.37:g.146536846G>A	ENSP00000354778:p.Trp84*	HNSCC(39;0.1)					p.W84*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	768	+	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)	84			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.252G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023625	0.99319	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000354778:W84X	W	+	3	0	CNTNAP2	146167779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG		0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			45	223	0	0	0	1	0	45	223					A	146536846	G	A	146536846	4	1	79	1	0	0	0	0	0	1	0	0	3656	1212	42	2	262	2	CNTNAP2	7	146536846	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65445	146536846	12601817	8997	19314											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgacatgtgtgcgatcataGacaggtaaatgatcttttca	9	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(1666-1668)Gac>Cac		contactin associated protein-like 2							130	115	120					7																	147092868		2203	4299	6502	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.chr7:147092868G>C	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.1666G>C	7.37:g.147092868G>C	ENSP00000354778:p.Asp556His	HNSCC(39;0.1)					p.D556H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2182	+	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)	556			EGF-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1666G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406066	0.83230	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	H	556	ENSP00000354778:D556H	ENSP00000354778:D556H	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			76	428	0	0	0	1	0	76	428					C	147092868	G	C	147092868	3	2	79	1	0	0	0	0	1	0	0	0	3656	942	33	5	1704	5	CNTNAP2	7	147092868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556022	147092868	12045795	8998	19315											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctaccgcagcagatcCgcaaggccccaacagaaggc	11	16	0	2	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H. {ECO:0000269|PubMed:18179895}.		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)			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)			GCAGCAGATCCGCAAGGCCCC	0.562										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(2716-2718)Cgc>Tgc		contactin associated protein-like 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	68	69		2716	5.5	1	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	906/1332	147844744	2,13004	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.chr7:147844744C>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.2716C>T	7.37:g.147844744C>T	ENSP00000354778:p.Arg906Cys	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.R906C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3232	+	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)	906		R -> H.	Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2716C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566564	0.86439	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.49	5.49	0.81192	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	0.90195	0.6935	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91397	0.5140	10	0.56958	D	0.05	.	17.9875	0.89159	0.0:1.0:0.0:0.0	.	906	Q9UHC6	CNTP2_HUMAN	C	906	ENSP00000354778:R906C	ENSP00000354778:R906C	R	+	1	0	CNTNAP2	147475677	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.369000	0.44231	2.583000	0.87209	0.561000	0.74099	CGC		0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			77	371	0	0	0	1	0	77	371					T	147844744	C	T	147844744	3	4	79	1	0	0	0	0	1	0	0	0	3656	652	23	1	2782	1	CNTNAP2	7	147844744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	751876	147844744	11293919	8999	19316											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914439	147914439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataactttcaggcaccagcaAcaaatgccagagactccagc	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147914439A>G	ENST00000361727.3	+	19	3586	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1024					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)			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)			GGCACCAGCAACAAATGCCAG	0.498										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(3070-3072)Aca>Gca		contactin associated protein-like 2							122	122	122					7																	147914439		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.chr7:147914439A>G	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.3070A>G	7.37:g.147914439A>G	ENSP00000354778:p.Thr1024Ala	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	p.T1024A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3586	+	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)	1024					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3070A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	2.089	-0.408750	0.04799	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79554	-1.28;-1.28	5.25	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.943125	0.08941	N	0.871526	T	0.60405	0.2266	L	0.31578	0.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.08599	T	0.76	.	4.5312	0.12006	0.5566:0.103:0.2361:0.1043	.	1024	Q9UHC6	CNTP2_HUMAN	A	1024;83	ENSP00000354778:T1024A;ENSP00000440732:T83A	ENSP00000354778:T1024A	T	+	1	0	CNTNAP2	147545372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-1.048000	0.03238	-0.366000	0.07423	ACA		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	703	0	0	0	1	0	12	703					G	147914439	A	G	147914439	3	3	79	1	0	0	0	0	1	0	0	0	3656	43	2	4	3144	4	CNTNAP2	7	147914439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69695	147914439	11224224	9000	19317											
C7orf33	202865	broad.mit.edu	37	chr7	148311388	148311388	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaagttcatacctaaaCgtaagctccgaagtgtctta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.e2+1		chromosome 7 open reading frame 33							118	98	105					7																	148311388		2203	4300	6503	SO:0001630	splice_region_variant	202865							g.chr7:148311388C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.459+1C>T	7.37:g.148311388C>T							p.N153_splice	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	820	+	Melanoma(164;0.15)		153						Splice_Site	SNP	ENST00000307003.2	37	c.459_splice	CCDS5890.1																																																																																				0.458	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304	Silent	30	350	0	0	0	1	0	30	350					T	148311388	C	T	148311388	5	4	79	1	0	0	0	0	0	0	1	0	2395	550	19	1	465	1	C7orf33	7	148311388	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396949	148311388	10827275	9001	19318											
CUL1	8454	broad.mit.edu	37	chr7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatggagaagatttgatgGatgagagtgtactgaaattc	14	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(334-336)Gat>Aat		cullin 1							129	132	131					7																	148454093		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148454093G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.334G>A	7.37:g.148454093G>A	ENSP00000326804:p.Asp112Asn					CUL1_ENST00000409469.1_Missense_Mutation_p.D112N|CUL1_ENST00000602748.1_Missense_Mutation_p.D112N	p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		4	613	+	Melanoma(164;0.15)		112					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.334G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139977	0.77775	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.32515	1.45;1.45	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39514	1.22	0.80722	D	1	P	0.35844	0.524	B	0.42112	0.376	T	0.08994	-1.0695	10	0.36615	T	0.2	-36.0131	18.0881	0.89464	0.0:0.0:1.0:0.0	.	112	Q13616	CUL1_HUMAN	N	112;112;70	ENSP00000387160:D112N;ENSP00000326804:D112N	ENSP00000326804:D112N	D	+	1	0	CUL1	148085026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.514000	0.98013	2.360000	0.80028	0.650000	0.86243	GAT		0.328	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		87	338	0	0	0	1	0	87	338					A	148454093	G	A	148454093	3	1	79	1	0	0	0	0	1	0	0	0	4065	1174	41	2	344	2	CUL1	7	148454093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142705	148454093	10684570	9002	19319											
EZH2	2146	broad.mit.edu	37	chr7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatcatacactttccctcttCtgtcagcttcatcttgagaa	4	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000460911.1	-	17	2046	c.1958G>T	c.(1957-1959)aGa>aTa	p.R653I	EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000320356.2_Missense_Mutation_p.R658I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	653	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCCCTCTTCTGTCAGCTTC	0.398			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1972-1974)aGa>aTa		enhancer of zeste homolog 2 (Drosophila)							90	78	82					7																	148507481		2202	4300	6502	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148507481C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1958G>T	7.37:g.148507481C>A	ENSP00000419711:p.Arg653Ile					EZH2_ENST00000460911.1_Missense_Mutation_p.R653I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I	p.R658I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		17	2094	-	Melanoma(164;0.15)		653			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1973G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285424	0.95517	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81739	-1.53;-1.31;-1.31;-1.31;-1.53;-1.53;-1.31	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.91099	0.4913	10	0.87932	D	0	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	644;602;653;614;658	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	I	602;658;653;614;602;602;644	ENSP00000417062:R602I;ENSP00000320147:R658I;ENSP00000419711:R653I;ENSP00000223193:R614I;ENSP00000443219:R602I;ENSP00000419050:R602I;ENSP00000419856:R644I	ENSP00000320147:R658I	R	-	2	0	EZH2	148138414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.550000	0.86006	0.655000	0.94253	AGA		0.398	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		40	207	1	0	2.95478e-19	1	3.29235e-19	40	207					A	148507481	C	A	148507481	3	1	79	1	0	0	0	0	1	0	0	0	5352	913	32	3	298	3	EZH2	7	148507481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53388	148507481	10631182	9003	19320											
EZH2	2146	broad.mit.edu	37	chr7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggtcacactctcggAcagccaggtagcacgggcac	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000460911.1	-	15	1818	c.1730T>C	c.(1729-1731)gTc>gCc	p.V577A	EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000320356.2_Missense_Mutation_p.V582A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	577	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACTCTCGGACAGCCAGGTA	0.547			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1744-1746)gTc>gCc		enhancer of zeste homolog 2 (Drosophila)							177	162	167					7																	148511157		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148511157A>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1730T>C	7.37:g.148511157A>G	ENSP00000419711:p.Val577Ala					EZH2_ENST00000460911.1_Missense_Mutation_p.V577A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A	p.V582A	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		15	1866	-	Melanoma(164;0.15)		577			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1745T>C	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.977289	0.74360	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89746	-2.56;-1.29;-1.29;-1.29;-2.56;-2.56;-1.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.58302	1.8	0.80722	D	1	B;B;P;P;B	0.36944	0.19;0.295;0.574;0.566;0.3	B;B;B;B;B	0.40825	0.172;0.28;0.297;0.341;0.154	D	0.83610	0.0133	10	0.05721	T	0.95	.	15.3083	0.74011	1.0:0.0:0.0:0.0	.	568;526;577;538;582	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	A	526;582;577;538;526;526;568	ENSP00000417062:V526A;ENSP00000320147:V582A;ENSP00000419711:V577A;ENSP00000223193:V538A;ENSP00000443219:V526A;ENSP00000419050:V526A;ENSP00000419856:V568A	ENSP00000320147:V582A	V	-	2	0	EZH2	148142090	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.042000	0.93793	2.010000	0.58986	0.460000	0.39030	GTC		0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		44	572	0	0	0	1	0	44	572					G	148511157	A	G	148511157	3	3	79	1	0	0	0	0	1	0	0	0	5352	275	10	4	534	4	EZH2	7	148511157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3676	148511157	10627506	9004	19321											
EZH2	2146	broad.mit.edu	37	chr7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttagttcttctgCtgtgcccttatctggaaaca	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000460911.1	-	7	797	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000320356.2_Missense_Mutation_p.A237S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	237	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGTTCTTCTGCTGTGCCCTTA	0.368			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(709-711)Gca>Tca		enhancer of zeste homolog 2 (Drosophila)							168	162	164					7																	148524275		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148524275C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.709G>T	7.37:g.148524275C>A	ENSP00000419711:p.Ala237Ser					EZH2_ENST00000460911.1_Missense_Mutation_p.A237S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S	p.A237S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		7	830	-	Melanoma(164;0.15)		237			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.709G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.685787	0.29962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93712	-3.24;-3.27;-3.27;-3.27;-3.24;-3.24;-3.27;0.97	5.6	4.68	0.58851	SANT domain, DNA binding (1);	0.338513	0.34580	N	0.003859	D	0.83519	0.5272	N	0.04636	-0.2	0.31822	N	0.62585	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.002;0.001	T	0.79035	-0.1968	10	0.24483	T	0.36	.	13.5966	0.61994	0.2792:0.7208:0.0:0.0	.	237;228;228;237;198;237	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	228;237;237;198;228;228;228;128	ENSP00000417062:A228S;ENSP00000320147:A237S;ENSP00000419711:A237S;ENSP00000223193:A198S;ENSP00000443219:A228S;ENSP00000419050:A228S;ENSP00000419856:A228S;ENSP00000439305:A128S	ENSP00000320147:A237S	A	-	1	0	EZH2	148155208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.632000	0.89209	0.650000	0.86243	GCA		0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		56	682	1	0	2.23044e-30	1	2.6157e-30	56	682					A	148524275	C	A	148524275	3	1	79	1	0	0	0	0	1	0	0	0	5352	797	28	3	1602	3	EZH2	7	148524275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13118	148524275	10614388	9005	19322											
PDIA4	9601	broad.mit.edu	37	chr7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatcctccccactctcgCtgagccccaggtccttcacc	6	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	468					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1402-1404)aGc>aAc		protein disulfide isomerase family A, member 4							208	171	184					7																	148702352		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702352C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1403G>A	7.37:g.148702352C>T	ENSP00000286091:p.Ser468Asn		OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.S468N	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1635	-	Melanoma(164;0.15)		468					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1403G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531072	0.45073	.	.	ENSG00000155660	ENST00000286091	T	0.33438	1.41	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.207546	0.64402	D	0.000020	T	0.38161	0.1030	M	0.82323	2.585	0.42745	D	0.993757	B	0.21905	0.062	B	0.21360	0.034	T	0.24333	-1.0163	10	0.31617	T	0.26	.	13.7034	0.62622	0.193:0.807:0.0:0.0	.	468	P13667	PDIA4_HUMAN	N	468	ENSP00000286091:S468N	ENSP00000286091:S468N	S	-	2	0	PDIA4	148333285	0.983000	0.35010	0.995000	0.50966	0.972000	0.66771	3.840000	0.55843	2.445000	0.82738	0.655000	0.94253	AGC		0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		174	673	0	0	0	1	0	174	673					T	148702352	C	T	148702352	3	4	79	1	0	0	0	0	1	0	0	0	11712	797	28	2	542	2	PDIA4	7	148702352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178077	148702352	10436311	9006	19323											
PDIA4	9601	broad.mit.edu	37	chr7	148718166	148718166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttaacttccaagtcGtcttcttcctcatcatcatc	2	15	6	0	rs374207775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	54	Asp/Glu-rich (acidic).|Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(160-162)gaC>gaT		protein disulfide isomerase family A, member 4		G		1,4405	2.1+/-5.4	0,1,2202	191	175	180		162	-9.5	0	7		180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		54/646	148718166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718166G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.162C>T	7.37:g.148718166G>A							p.D54D	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	394	-	Melanoma(164;0.15)		54			Asp/Glu-rich (acidic).|Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.162C>T	CCDS5893.1																																																																																				0.418	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		25	118	0	0	0	1	0	25	118					A	148718166	G	A	148718166	2	1	79	1	0	0	0	0	0	0	0	1	11712	1136	40	1		1	PDIA4	7	148718166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15814	148718166	10420497	9007	19324											
ZNF786	136051	broad.mit.edu	37	chr7	148768238	148768238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggcggaagcgcttgtcGcacttcaggcactggaaggg	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000491431.1	-	4	1690	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ZNF786_ENST00000316286.9_Silent_p.C456C|ZNF786_ENST00000451334.3_Silent_p.C505C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1366-1368)tgC>tgT		zinc finger protein 786							24	27	26					7																	148768238		2148	4258	6406	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768238G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1626C>T	7.37:g.148768238G>A						ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000491431.1_Silent_p.C542C	p.C456C			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1640	-	Melanoma(164;0.15)		542					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1368C>T	CCDS47738.1																																																																																				0.632	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		24	120	0	0	0	1	0	24	120					A	148768238	G	A	148768238	2	1	79	1	0	0	0	0	0	0	0	1	18211	1079	38	1		1	ZNF786	7	148768238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50072	148768238	10370425	9008	19325											
ZNF425	155054	broad.mit.edu	37	chr7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgggacactggaagggcCtctctccactgtgcttatac	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGAAGGGCCTCTCTCCACT	0.562																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(2074-2076)aGg>aTg		zinc finger protein 425							91	87	89					7																	148800888		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800888C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2075G>T	7.37:g.148800888C>A	ENSP00000367300:p.Arg692Met						p.R692M	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2207	-	Melanoma(164;0.15)		692					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2075G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071401	0.36566	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.44	-1.11	0.09840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.84773	2.715	0.24828	N	0.992545	D	0.67145	0.996	P	0.62649	0.905	T	0.26467	-1.0102	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.5338:0.0:0.4662	.	692	Q6IV72	ZN425_HUMAN	M	692	ENSP00000367300:R692M	ENSP00000367300:R692M	R	-	2	0	ZNF425	148431821	0.000000	0.05858	0.065000	0.19835	0.982000	0.71751	-2.517000	0.00954	-0.170000	0.10816	0.655000	0.94253	AGG		0.562	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		45	472	1	0	1.17962e-10	1	1.2527e-10	45	472					A	148800888	C	A	148800888	3	1	79	1	0	0	0	0	1	0	0	0	17952	681	24	3	187	3	ZNF425	7	148800888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32650	148800888	10337775	9009	19326											
ZNF425	155054	broad.mit.edu	37	chr7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccgcacgcgaagggCttctcgtccctgtgcatccg	10	17	2	0	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	580					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCGAAGGGCTTCTCGTCCC	0.597																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1738-1740)aaG>aaT		zinc finger protein 425							73	62	66					7																	148801223		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801223C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1740G>T	7.37:g.148801223C>A	ENSP00000367300:p.Lys580Asn						p.K580N	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1872	-	Melanoma(164;0.15)		580					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1740G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567119	0.45694	.	.	ENSG00000204947	ENST00000378061	T	0.08546	3.08	3.42	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	M	0.81112	2.525	0.27794	N	0.94271	D	0.59357	0.985	P	0.54590	0.756	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9994	0.19511	0.0:0.7513:0.0:0.2486	.	580	Q6IV72	ZN425_HUMAN	N	580	ENSP00000367300:K580N	ENSP00000367300:K580N	K	-	3	2	ZNF425	148432156	0.097000	0.21791	0.054000	0.19295	0.376000	0.30014	0.637000	0.24659	0.741000	0.32674	0.655000	0.94253	AAG		0.597	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		63	296	1	0	5.73332e-34	1	6.80828e-34	63	296					A	148801223	C	A	148801223	3	1	79	1	0	0	0	0	1	0	0	0	17952	796	28	3	522	3	ZNF425	7	148801223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	148801223	10337440	9010	19327											
ZNF425	155054	broad.mit.edu	37	chr7	148801589	148801589	+	Silent	SNP	G	G	A													ctgtgcaggcgctggtgggcGcgcatggcgttcctccagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R458R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGGTGGGCGCGCATGGCGT	0.662																																						ENST00000378061.2																			1	Substitution - coding silent(1)	p.R458R(1)	large_intestine(1)	breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1372-1374)cgC>cgT		zinc finger protein 425							33	34	34					7																	148801589		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801589G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1374C>T	7.37:g.148801589G>A							p.R458R	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1506	-	Melanoma(164;0.15)		458					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1374C>T	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		56	290	0	0	0	1	0	56	290					A	148801589	G	A	148801589	2	1	79	1	0	0	0	0	0	0	0	1	17952	1074	38	1		1	ZNF425	7	148801589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	148801589	10337074	9011	19328	117	2									
ZNF425	155054	broad.mit.edu	37	chr7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C													caggcgctggtgggcgcgcaTggcgttcctccagaagaagc					rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	457					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCGCGCATGGCGTTCCTC	0.672																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1369-1371)Atg>Gtg		zinc finger protein 425		T	VAL/MET	0,4406		0,0,2203	34	35	34		1369	-1.5	0	7	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF425	NM_001001661.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	457/753	148801594	1,13005	2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801594T>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1369A>G	7.37:g.148801594T>C	ENSP00000367300:p.Met457Val						p.M457V	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1501	-	Melanoma(164;0.15)		457					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1369A>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695657	0.68386	0.0	1.16E-4	ENSG00000204947	ENST00000378061	T	0.17213	2.29	3.17	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B	0.33694	0.421	B	0.31191	0.125	T	0.27673	-1.0067	9	0.87932	D	0	.	5.7292	0.18030	0.1752:0.0:0.5343:0.2906	.	457	Q6IV72	ZN425_HUMAN	V	457	ENSP00000367300:M457V	ENSP00000367300:M457V	M	-	1	0	ZNF425	148432527	0.001000	0.12720	0.007000	0.13788	0.913000	0.54294	0.052000	0.14163	-0.012000	0.14223	0.533000	0.62120	ATG		0.672	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		67	291	0	0	0	1	0	67	291					C	148801594	T	C	148801594	3	2	79	1	0	0	0	0	1	0	0	0	17952	1464	51	4	893	4	ZNF425	7	148801594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5	148801594	10337069	9012	19329	117	2									
ZNF425	155054	broad.mit.edu	37	chr7	148801988	148801988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggaagggcttctctccGctgtgcagccgcaagtgctc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	325					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCGCTGTGCAGCC	0.667																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(973-975)agC>agT		zinc finger protein 425							36	34	35					7																	148801988		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801988G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.975C>T	7.37:g.148801988G>A							p.S325S	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1107	-	Melanoma(164;0.15)		325					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.975C>T	CCDS34773.1																																																																																				0.667	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		42	242	0	0	0	1	0	42	242					A	148801988	G	A	148801988	2	1	79	1	0	0	0	0	0	0	0	1	17952	1078	38	1		1	ZNF425	7	148801988	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394	148801988	10336675	9013	19330											
ZNF398	57541	broad.mit.edu	37	chr7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcatgcagacatctgAatgggactccgagtgcctta	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	11					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACATCTGAATGGGACTCC	0.498																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(31-33)gAa>gCa		zinc finger protein 398							80	76	78					7																	148851044		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851044A>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.32A>C	7.37:g.148851044A>C	ENSP00000420418:p.Glu11Ala					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.E11A			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	299	+	Melanoma(164;0.15)		11					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.32A>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953521	0.73902	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	3.13;2.93	5.1	5.1	0.69264	.	0.000000	0.48767	D	0.000172	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	T	0.01993	-1.1233	10	0.87932	D	0	-15.7009	11.2938	0.49267	1.0:0.0:0.0:0.0	.	16;11	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	11;16	ENSP00000420418:E11A;ENSP00000439340:E16A	ENSP00000420418:E11A	E	+	2	0	ZNF398	148481977	0.991000	0.36638	1.000000	0.80357	0.924000	0.55760	2.545000	0.45769	1.916000	0.55485	0.460000	0.39030	GAA		0.498	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			75	376	0	0	0	1	0	75	376					C	148851044	A	C	148851044	3	2	79	1	0	0	0	0	1	0	0	0	17938	246	9	4	38	4	ZNF398	7	148851044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49056	148851044	10287619	9014	19331											
ZNF398	57541	broad.mit.edu	37	chr7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacctgctgcgcaacaGgaacttctggatcctgcggc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	123					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGCGCAACAGGAACTTCTGG	0.537																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(367-369)aGg>aTg		zinc finger protein 398							52	56	54					7																	148851380		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851380G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.368G>T	7.37:g.148851380G>T	ENSP00000420418:p.Arg123Met					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.R123M			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	635	+	Melanoma(164;0.15)		123					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.368G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000785	0.74818	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10860	2.83;2.84	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000058	T	0.30916	0.0780	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.00995	-1.1487	10	0.54805	T	0.06	-22.2834	14.2249	0.65853	0.0:0.0:1.0:0.0	.	128;123	B4DXA9;Q8TD17	.;ZN398_HUMAN	M	123;128	ENSP00000420418:R123M;ENSP00000439340:R128M	ENSP00000420418:R123M	R	+	2	0	ZNF398	148482313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.382000	0.44345	2.420000	0.82092	0.655000	0.94253	AGG		0.537	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			74	404	1	0	1.7488e-33	1	2.07287e-33	74	404					T	148851380	G	T	148851380	3	4	79	1	0	0	0	0	1	0	0	0	17938	1000	35	3	374	3	ZNF398	7	148851380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	148851380	10287283	9015	19332											
ZNF282	8427	broad.mit.edu	37	chr7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctggcgggctgcggcGgagcctcctcctgcacggcg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGGCTGCGGCGGAGCCTCCTC	0.781																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1516-1518)cGg>cAg		zinc finger protein 282							5	5	5					7																	148921240		2087	4123	6210	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921240G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1517G>A	7.37:g.148921240G>A	ENSP00000262085:p.Arg506Gln					ZNF282_ENST00000479907.1_Intron	p.R506Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1622	+	Melanoma(164;0.15)		506					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1517G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894851	0.52121	.	.	ENSG00000170265	ENST00000262085	T	0.06768	3.26	3.82	2.01	0.26516	.	0.185108	0.26439	N	0.024368	T	0.05777	0.0151	L	0.32530	0.975	0.40470	D	0.980339	B	0.14438	0.01	B	0.04013	0.001	T	0.37291	-0.9712	10	0.29301	T	0.29	-21.4411	5.9703	0.19349	0.2448:0.0:0.7552:0.0	.	506	Q9UDV7	ZN282_HUMAN	Q	506	ENSP00000262085:R506Q	ENSP00000262085:R506Q	R	+	2	0	ZNF282	148552173	0.000000	0.05858	0.059000	0.19551	0.327000	0.28475	0.042000	0.13949	0.303000	0.22785	0.561000	0.74099	CGG		0.781	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		22	41	0	0	0	1	0	22	41					A	148921240	G	A	148921240	3	1	79	1	0	0	0	0	1	0	0	0	17872	1116	39	1	1547	1	ZNF282	7	148921240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69860	148921240	10217423	9016	19333											
ZNF282	8427	broad.mit.edu	37	chr7	148921304	148921304	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagtgcggcaagagcttCggcgtgcgcaagagcctcat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	527					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCAAGAGCTTCGGCGTGCGCA	0.697																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1579-1581)ttC>ttT		zinc finger protein 282							25	24	25					7																	148921304		2203	4299	6502	SO:0001819	synonymous_variant	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921304C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1581C>T	7.37:g.148921304C>T						ZNF282_ENST00000479907.1_Intron	p.F527F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1686	+	Melanoma(164;0.15)		527					B4DRI5|O43691|Q6DKK0	Silent	SNP	ENST00000262085.3	37	c.1581C>T	CCDS5895.1																																																																																				0.697	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		39	155	0	0	0	1	0	39	155					T	148921304	C	T	148921304	2	4	79	1	0	0	0	0	0	0	0	1	17872	883	31	1		1	ZNF282	7	148921304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	148921304	10217359	9017	19334											
ZNF212	7988	broad.mit.edu	37	chr7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtacacctgaggagccaGaggagagccttaggcccagg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(1048-1050)Gag>Tag		zinc finger protein 212							43	39	40					7																	148951066		2203	4300	6503	SO:0001587	stop_gained	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148951066G>T	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1048G>T	7.37:g.148951066G>T	ENSP00000338572:p.Glu350*						p.E350*	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		5	1176	+	Melanoma(164;0.15)		350					B2RCF4|Q13396|Q8N664	Nonsense_Mutation	SNP	ENST00000335870.2	37	c.1048G>T	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011410	0.54468	.	.	ENSG00000170260	ENST00000335870	.	.	.	4.99	3.18	0.36537	.	0.811066	0.10930	N	0.618502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.6687	9.7827	0.40658	0.1718:0.0:0.8282:0.0	.	.	.	.	X	350	.	ENSP00000338572:E350X	E	+	1	0	ZNF212	148581999	0.733000	0.28132	0.314000	0.25224	0.078000	0.17371	3.391000	0.52530	0.618000	0.30179	0.561000	0.74099	GAG		0.572	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		32	116	1	0	8.4185e-14	1	9.11178e-14	32	116					T	148951066	G	T	148951066	4	4	79	1	0	0	0	0	0	1	0	0	17821	943	33	3	1066	3	ZNF212	7	148951066	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29762	148951066	10187597	9018	19335											
ZNF777	27153	broad.mit.edu	37	chr7	149128930	149128930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcggaagcacttggcGcagtgcgtgcaggggtaggg	19	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	727					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(2431-2433)tgC>tgT		zinc finger protein 777							21	24	23					7																	149128930		2201	4295	6496	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149128930G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2433C>T	7.37:g.149128930G>A							p.C811C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2756	-	Melanoma(164;0.165)		0					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2433C>T	CCDS43675.1																																																																																				0.721	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		25	154	0	0	0	1	0	25	154					A	149128930	G	A	149128930	2	1	79	1	0	0	0	0	0	0	0	1	18203	1079	38	1		1	ZNF777	7	149128930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177864	149128930	10009733	9019	19336											
ZNF777	27153	broad.mit.edu	37	chr7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagggccgctcgccgcGccggttccgctgctgctggc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1621-1623)Cgc>Tgc		zinc finger protein 777							35	37	37					7																	149129742		2189	4291	6480	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129742G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1621C>T	7.37:g.149129742G>A	ENSP00000247930:p.Arg541Cys						p.R541C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1944	-	Melanoma(164;0.165)		541					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1621C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289908	0.59976	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05925	3.37	4.59	3.66	0.41972	.	0.143056	0.29293	N	0.012565	T	0.08935	0.0221	L	0.42581	1.335	0.43540	D	0.995839	D	0.60160	0.987	P	0.46825	0.528	T	0.04320	-1.0960	10	0.87932	D	0	-27.4626	11.8466	0.52387	0.0:0.0:0.8254:0.1746	.	541	Q9ULD5-2	.	C	541;284	ENSP00000247930:R541C	ENSP00000247930:R541C	R	-	1	0	ZNF777	148760675	0.020000	0.18652	0.986000	0.45419	0.987000	0.75469	1.327000	0.33746	2.376000	0.81061	0.460000	0.39030	CGC		0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		33	139	0	0	0	1	0	33	139					A	149129742	G	A	149129742	3	1	79	1	0	0	0	0	1	0	0	0	18203	1087	38	1	878	1	ZNF777	7	149129742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	812	149129742	10008921	9020	19337											
KRBA1	84626	broad.mit.edu	37	chr7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccagccctcccaccCatagccccagcaggaggaag	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000485033.2	+	5	541	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(541-543)Cat>Tat		KRAB-A domain containing 1							20	24	23					7																	149419587		1841	4076	5917	SO:0001583	missense	84626							g.chr7:149419587C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.541C>T	7.37:g.149419587C>T	ENSP00000420112:p.His181Tyr					KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000485033.2_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR	p.H181Y	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		6	940	+	Melanoma(164;0.165)|Ovarian(565;0.177)		181					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101931	0.01828	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30182	1.54;1.54;1.54	4.25	-0.873	0.10635	.	1.625990	0.03280	N	0.186087	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.18276	T	0.48	6.4057	3.6635	0.08247	0.1675:0.2221:0.0:0.6104	.	181	A5PL33	KRBA1_HUMAN	Y	181	ENSP00000255992:H181Y;ENSP00000317165:H181Y;ENSP00000420112:H181Y	ENSP00000255992:H181Y	H	+	1	0	KRBA1	149050520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.335000	0.08451	-1.099000	0.02127	CAT		0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		13	52	0	0	0	1	0	13	52					T	149419587	C	T	149419587	3	4	79	1	0	0	0	0	1	0	0	0	8469	594	21	2	559	2	KRBA1	7	149419587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289845	149419587	9719076	9021	19338											
ZNF467	168544	broad.mit.edu	37	chr7	149462850	149462850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgcttgccgcactcCgcgcacgggtagggccgctc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(739-741)gcG>gcA		zinc finger protein 467							28	22	24					7																	149462850		2203	4300	6503	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462850C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.741G>A	7.37:g.149462850C>T						ZNF467_ENST00000484747.1_Intron	p.A247A	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1154	-	Melanoma(164;0.165)|Ovarian(565;0.177)		247						Silent	SNP	ENST00000302017.3	37	c.741G>A	CCDS5899.1																																																																																				0.677	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		13	99	0	0	0	1	0	13	99					T	149462850	C	T	149462850	2	4	79	1	0	0	0	0	0	0	0	1	17980	639	23	1		1	ZNF467	7	149462850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43263	149462850	9675813	9022	19339											
ZNF467	168544	broad.mit.edu	37	chr7	149467528	149467528	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggttcctgttacctaCctgagcacacccccagtgct	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTTACCTACCTGAGCACAC	0.612																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.e3+1		zinc finger protein 467							57	57	57					7																	149467528		2203	4300	6503	SO:0001630	splice_region_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149467528C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.151+1G>A	7.37:g.149467528C>T						ZNF467_ENST00000484747.1_Splice_Site		NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	565	-	Melanoma(164;0.165)|Ovarian(565;0.177)								Splice_Site	SNP	ENST00000302017.3	37		CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612050	0.28712	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4988	0.61442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF467	149098461	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	3.805000	0.55575	2.023000	0.59567	0.556000	0.70494	.		0.612	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	Intron	33	198	0	0	0	1	0	33	198					T	149467528	C	T	149467528	5	4	79	1	0	0	0	0	0	0	1	0	17980	521	18	2	1647	2	ZNF467	7	149467528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4678	149467528	9671135	9023	19340											
SSPO	168544	broad.mit.edu	37	chr7	149473515	149473515	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacctggtaccctgtgccaGcctcgaccattacagccgcc	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473515G>T	ENST00000302017.3	-	0	0				SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGCCAGCCTCGACCAT	0.667																																						ENST00000378016.2																			0													SCO-spondin							19	25	23					7																	149473515		2038	4168	6206	SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473515G>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473515G>T	Exception_encountered									A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	131	+	Melanoma(164;0.165)|Ovarian(565;0.177)								RNA	SNP	ENST00000302017.3	37		CCDS5899.1																																																																																				0.667	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		11	46	1	0	5.16669e-11	1	5.49905e-11	11	46					T	149473515	G	T	149473515	1	4	79	0	1	0	0	0	0	0	0	0	15241	971	34	3		3	SSPO	7	149473515	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5987	149473515	9665148	9024	19341											
SSPO	168544	broad.mit.edu	37	chr7	149473530	149473530	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcctcgaccattacaGccgcctgggctggcggctgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473530G>A	ENST00000302017.3	-	0	0				SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCATTACAGCCGCCTGGGC	0.662																																						ENST00000378016.2																			0													SCO-spondin							15	20	18					7																	149473530		1963	4127	6090	SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473530G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473530G>A	Exception_encountered									A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	146	+	Melanoma(164;0.165)|Ovarian(565;0.177)								RNA	SNP	ENST00000302017.3	37		CCDS5899.1																																																																																				0.662	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		10	45	0	0	0	1	0	10	45					A	149473530	G	A	149473530	1	1	79	0	1	0	0	0	0	0	0	0	15241	971	34	2		2	SSPO	7	149473530	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	149473530	9665133	9025	19342											
SSPO	23145	broad.mit.edu	37	chr7	149477527	149477527	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactactgccgccagcgctAtgtacccggtgacaccgtgc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	ENST00000378016.2	+	0	1598							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCAGCGCTATGTACCCGGT	0.647																																						ENST00000378016.2																			0													SCO-spondin							31	41	38					7																	149477527		2164	4262	6426			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477527A>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477527A>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1598	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				14	115	0	0	0	1	0	14	115					G	149477527	A	G	149477527	1	3	79	0	1	0	0	0	0	0	0	0	15241	449	16	4		4	SSPO	7	149477527	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3997	149477527	9661136	9026	19343											
SSPO	23145	broad.mit.edu	37	chr7	149479934	149479934	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagaccccctgttccaGgagctgtgctggtcaatggg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	ENST00000378016.2	+	0	1900							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTTCCAGGAGCTGTGCT	0.607																																						ENST00000378016.2																			0													SCO-spondin							36	40	38					7																	149479934		2079	4194	6273			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149479934G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149479934G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1900	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	161	1	0	3.86212e-05	1	3.93988e-05	8	161					T	149479934	G	T	149479934	1	4	79	0	1	0	0	0	0	0	0	0	15241	1014	35	3		3	SSPO	7	149479934	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	149479934	9658729	9027	19344											
SSPO	23145	broad.mit.edu	37	chr7	149481008	149481008	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttatgtgtcctggtggCcaggagtaccgagagtgtgc	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	ENST00000378016.2	+	0	2490							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGGTGGCCAGGAGTACC	0.622																																						ENST00000378016.2																			0													SCO-spondin							46	51	49					7																	149481008		2137	4244	6381			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481008C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481008C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2490	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	116	0	0	0	1	0	19	116					T	149481008	C	T	149481008	1	4	79	0	1	0	0	0	0	0	0	0	15241	726	26	2		2	SSPO	7	149481008	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	149481008	9657655	9028	19345											
SSPO	23145	broad.mit.edu	37	chr7	149482714	149482714	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgctggtgcgagagGccagtggcctattcacagtc	13	10	2	1	rs369722117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149482714G>T	ENST00000378016.2	+	0	3130							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCGAGAGGCCAGTGGCCT	0.637																																						ENST00000378016.2																			0													SCO-spondin							21	26	24					7																	149482714		2074	4201	6275			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482714G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482714G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3130	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	54	1	0	7.48243e-07	1	7.73841e-07	10	54					T	149482714	G	T	149482714	1	4	79	0	1	0	0	0	0	0	0	0	15241	1203	42	3		3	SSPO	7	149482714	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1706	149482714	9655949	9029	19346											
SSPO	23145	broad.mit.edu	37	chr7	149489462	149489462	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagtgcccctgcctggTggacggtgcccgctactggc	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	ENST00000378016.2	+	0	5615							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCTGGTGGACGGTGCC	0.701																																						ENST00000378016.2																			0													SCO-spondin							13	21	18					7																	149489462		2113	4208	6321			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489462T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489462T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5615	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	47	0	0	0	1	0	11	47					C	149489462	T	C	149489462	1	2	79	0	1	0	0	0	0	0	0	0	15241	1696	59	4		4	SSPO	7	149489462	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6748	149489462	9649201	9030	19347											
SSPO	23145	broad.mit.edu	37	chr7	149490411	149490411	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaggtgccagacggagCcctgtgaggggtgtgagcat	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	ENST00000378016.2	+	0	5887							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGACGGAGCCCTGTGAGGG	0.647																																						ENST00000378016.2																			0													SCO-spondin							24	28	27					7																	149490411		1979	4162	6141			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149490411C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149490411C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5887	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				17	96	0	0	0	1	0	17	96					T	149490411	C	T	149490411	1	4	79	0	1	0	0	0	0	0	0	0	15241	739	26	2		2	SSPO	7	149490411	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	949	149490411	9648252	9031	19348											
SSPO	23145	broad.mit.edu	37	chr7	149499027	149499027	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgactgccaggatggctcGgacgaggatggctgtggtat	16	9	0	1	rs147684856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	ENST00000378016.2	+	0	7479							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGACGAGGATG	0.697													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16638	0.0		0.001	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		G		1,4255		0,1,2127	20	22	22		7483	-8.7	0	7	dbSNP_134	22	7,8437		0,7,4215	yes	coding-notMod3	SSPO	NM_198455.2		0,8,6342	AA,AG,GG		0.0829,0.0235,0.063			149499027	8,12692	2128	4222	6350			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149499027G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149499027G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7479	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	132	0	0	0	1	0	20	132					A	149499027	G	A	149499027	1	1	79	0	1	0	0	0	0	0	0	0	15241	1103	39	1		1	SSPO	7	149499027	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8616	149499027	9639636	9032	19349											
SSPO	23145	broad.mit.edu	37	chr7	149509003	149509003	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatatcccctaggtgaGcccacgtggtcaccctggac	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	ENST00000378016.2	+	0	9549							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTAGGTGAGCCCACGTGGT	0.672																																						ENST00000378016.2																			0													SCO-spondin							28	33	31					7																	149509003		2101	4213	6314			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509003G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509003G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9549	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				32	209	0	0	0	1	0	32	209					A	149509003	G	A	149509003	1	1	79	0	1	0	0	0	0	0	0	0	15241	962	34	2		2	SSPO	7	149509003	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9976	149509003	9629660	9033	19350											
SSPO	23145	broad.mit.edu	37	chr7	149514988	149514988	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaacctggctcttcccccaGctcgtgtgcacacgggaagc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	ENST00000378016.2	+	0	11378							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTCCCCCAGCTCGTGTGCA	0.662																																						ENST00000378016.2																			0													SCO-spondin							38	42	41					7																	149514988		1981	4150	6131			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149514988G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149514988G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11378	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				44	169	1	0	1.00776e-21	1	1.13667e-21	44	169					T	149514988	G	T	149514988	1	4	79	0	1	0	0	0	0	0	0	0	15241	985	34	3		3	SSPO	7	149514988	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5985	149514988	9623675	9034	19351											
SSPO	23145	broad.mit.edu	37	chr7	149515002	149515002	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagctcgtgtgcacacGggaagctgtcttgctccctg	11	16	1	0	rs73481854	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149515002G>A	ENST00000378016.2	+	0	11392							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCACACGGGAAGCTGTC	0.672													G|||	11	0.00219649	0.0083	0.0	5008	,	,		16793	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		G		17,3981		0,17,1982	42	47	45		11402	4.3	0.4	7	dbSNP_130	45	0,8308		0,0,4154	yes	coding-notMod3	SSPO	NM_198455.2		0,17,6136	AA,AG,GG		0.0,0.4252,0.1381			149515002	17,12289	1999	4154	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515002G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515002G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11392	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				33	191	0	0	0	1	0	33	191					A	149515002	G	A	149515002	1	1	79	0	1	0	0	0	0	0	0	0	15241	1116	39	1		1	SSPO	7	149515002	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	149515002	9623661	9035	19352											
SSPO	23145	broad.mit.edu	37	chr7	149520498	149520498	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctccccctgtgctgggcTctgtgccacacacctgagcc	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	ENST00000378016.2	+	0	13316							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCTGGGCTCTGTGCCACA	0.662																																						ENST00000378016.2																			0													SCO-spondin							46	54	52					7																	149520498		2046	4204	6250			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149520498T>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149520498T>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13316	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				73	338	0	0	0	1	0	73	338					G	149520498	T	G	149520498	1	3	79	0	1	0	0	0	0	0	0	0	15241	1551	54	4		4	SSPO	7	149520498	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5496	149520498	9618165	9036	19353											
ZNF862	643641	broad.mit.edu	37	chr7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgggcagcccggttccGgagcatcagagacccacctg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	218					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)			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						GCCCGGTTCCGGAGCATCAGA	0.592																																						ENST00000223210.4																			0				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						c.(652-654)cGg>cAg		zinc finger protein 862							52	55	54					7																	149545235		1949	4152	6101	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545235G>A	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.653G>A	7.37:g.149545235G>A	ENSP00000223210:p.Arg218Gln						p.R218Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	898	+			218					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.653G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107865	0.08780	.	.	ENSG00000106479	ENST00000223210	T	0.01043	5.41	5.39	-3.5	0.04710	Zinc finger, TTF-type (1);	1.396590	0.04656	N	0.408112	T	0.00552	0.0018	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08381	T	0.77	-2.0822	11.3389	0.49520	0.4317:0.0:0.5683:0.0	.	218	O60290	ZN862_HUMAN	Q	218	ENSP00000223210:R218Q	ENSP00000223210:R218Q	R	+	2	0	ZNF862	149176168	0.000000	0.05858	0.005000	0.12908	0.812000	0.45895	-0.803000	0.04540	-0.636000	0.05524	-0.150000	0.13652	CGG		0.592	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		44	212	0	0	0	1	0	44	212					A	149545235	G	A	149545235	3	1	79	1	0	0	0	0	1	0	0	0	18248	1116	39	1	667	1	ZNF862	7	149545235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24737	149545235	9593428	9037	19354											
ZNF862	643641	broad.mit.edu	37	chr7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagcagaggtttgacgcaGaccgacccccacagctgaag	11	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	939					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)			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						GTTTGACGCAGACCGACCCCC	0.547																																						ENST00000223210.4																			0				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						c.(2815-2817)Gac>Tac		zinc finger protein 862							122	129	127					7																	149559064		2049	4179	6228	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559064G>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.2815G>T	7.37:g.149559064G>T	ENSP00000223210:p.Asp939Tyr						p.D939Y	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3060	+			939					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2815G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280198	0.10458	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.39	3.55	0.40652	.	0.225743	0.30911	N	0.008632	T	0.01061	0.0035	L	0.27053	0.805	0.29742	N	0.837006	P	0.44877	0.845	B	0.39840	0.311	T	0.48703	-0.9012	10	0.51188	T	0.08	-18.637	7.7891	0.29110	0.0885:0.1623:0.7492:0.0	.	939	O60290	ZN862_HUMAN	Y	939	ENSP00000223210:D939Y	ENSP00000223210:D939Y	D	+	1	0	ZNF862	149189997	0.099000	0.21834	0.780000	0.31762	0.275000	0.26752	1.241000	0.32743	1.255000	0.44051	0.655000	0.94253	GAC		0.547	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		99	604	1	0	3.36245e-48	1	4.14781e-48	99	604					T	149559064	G	T	149559064	3	4	79	1	0	0	0	0	1	0	0	0	18248	942	33	3	2841	3	ZNF862	7	149559064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13829	149559064	9579599	9038	19355											
ZNF862	643641	broad.mit.edu	37	chr7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcccagcacctcccgTtctccatgctctgcaaaaac	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1005					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)			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						GCACCTCCCGTTCTCCATGCT	0.602																																						ENST00000223210.4																			0				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						c.(3013-3015)Ttc>Ctc		zinc finger protein 862							46	52	50					7																	149559262		2081	4206	6287	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559262T>C	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.3013T>C	7.37:g.149559262T>C	ENSP00000223210:p.Phe1005Leu						p.F1005L	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3258	+			1005					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.3013T>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723757	0.30593	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.39	4.24	0.50183	HAT dimerisation (1);	0.109105	0.41396	N	0.000896	T	0.01905	0.0060	M	0.62723	1.935	0.29944	N	0.820842	B	0.20887	0.049	B	0.26693	0.072	T	0.10776	-1.0615	10	0.48119	T	0.1	.	8.0079	0.30336	0.0:0.0917:0.0:0.9083	.	1005	O60290	ZN862_HUMAN	L	1005	ENSP00000223210:F1005L	ENSP00000223210:F1005L	F	+	1	0	ZNF862	149190195	0.976000	0.34144	0.770000	0.31555	0.858000	0.48976	2.150000	0.42254	0.897000	0.36392	0.533000	0.62120	TTC		0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		40	239	0	0	0	1	0	40	239					C	149559262	T	C	149559262	3	2	79	1	0	0	0	0	1	0	0	0	18248	1725	60	4	3039	4	ZNF862	7	149559262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198	149559262	9579401	9039	19356											
ZNF862	643641	broad.mit.edu	37	chr7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtgtgcccatctccaCctcttgctgtgagcgggggt	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1036					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)			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						CCCATCTCCACCTCTTGCTGT	0.587																																						ENST00000223210.4																			0				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						c.(3106-3108)aCc>aTc		zinc finger protein 862							48	56	53					7																	149559356		2125	4231	6356	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559356C>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.3107C>T	7.37:g.149559356C>T	ENSP00000223210:p.Thr1036Ile						p.T1036I	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3352	+			1036					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.3107C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751826	0.49362	.	.	ENSG00000106479	ENST00000223210	T	0.24151	1.87	5.39	3.51	0.40186	HAT dimerisation (1);Ribonuclease H-like (1);	0.119463	0.37669	N	0.001994	T	0.42017	0.1184	M	0.70275	2.135	0.27088	N	0.962921	D	0.63046	0.992	P	0.60012	0.867	T	0.27331	-1.0077	10	0.56958	D	0.05	-24.2793	8.668	0.34132	0.1725:0.6614:0.1662:0.0	.	1036	O60290	ZN862_HUMAN	I	1036	ENSP00000223210:T1036I	ENSP00000223210:T1036I	T	+	2	0	ZNF862	149190289	0.982000	0.34865	0.996000	0.52242	0.954000	0.61252	2.076000	0.41548	0.597000	0.29811	0.655000	0.94253	ACC		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		32	130	0	0	0	1	0	32	130					T	149559356	C	T	149559356	3	4	79	1	0	0	0	0	1	0	0	0	18248	507	18	2	3133	2	ZNF862	7	149559356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	149559356	9579307	9040	19357											
ACTR3C	653857	broad.mit.edu	37	chr7	149983532	149983532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttcttctggttgatcGcattgatacccgtgtactgt	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149983532G>A	ENST00000539352.1	-	5	646	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	132						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)										CTGGTTGATCGCATTGATACC	0.418																																						ENST00000539352.1																			0											c.(394-396)gCg>gTg		ARP3 actin-related protein 3 homolog C (yeast)							159	169	166					7																	149983532		692	1591	2283	SO:0001583	missense	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149983532G>A		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.395C>T	7.37:g.149983532G>A	ENSP00000440990:p.Ala132Val					ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN			5	646	-			132					Q5CZI4	Missense_Mutation	SNP	ENST00000539352.1	37	c.395C>T	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383883	0.25031	.	.	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352	T;T;T	0.07216	3.21;3.21;3.21	2.3	2.3	0.28687	.	0.163294	0.39687	N	0.001298	T	0.06188	0.0160	L	0.33485	1.01	0.32708	N	0.511942	B	0.21606	0.058	B	0.06405	0.002	T	0.13072	-1.0523	9	.	.	.	.	10.7476	0.46189	0.0:0.0:1.0:0.0	.	132	Q9C0K3	ARP3C_HUMAN	V	130;132;132	ENSP00000417426:A130V;ENSP00000252071:A132V;ENSP00000440990:A132V	.	A	-	2	0	ACTR3C	149614465	1.000000	0.71417	0.951000	0.38953	0.275000	0.26752	5.805000	0.69143	1.604000	0.50143	0.184000	0.17185	GCG		0.418	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			105	551	0	0	0	1	0	105	551					A	149983532	G	A	149983532	3	1	79	1	0	0	0	0	1	0	0	0	214	1087	38	1	249	1	ACTR3C	7	149983532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424176	149983532	9155131	9041	19358											
REPIN1	29803	broad.mit.edu	37	chr7	150068918	150068918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccagctagttgcccacaaGcgggtgcacgtagctgaggc	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	ENST00000425389.2	+	1	666	c.588G>T	c.(586-588)aaG>aaT	p.K196N	REPIN1_ENST00000397281.2_Missense_Mutation_p.K196N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	196					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCCCACAAGCGGGTGCACG	0.746																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(586-588)aaG>aaT		replication initiator 1							10	12	11					7																	150068918		1869	4077	5946	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068918G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.588G>T	7.37:g.150068918G>T	ENSP00000388287:p.Lys196Asn					REPIN1_ENST00000425389.2_Missense_Mutation_p.K196N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	p.K196N	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1077	+	Ovarian(565;0.183)|Melanoma(164;0.226)		196					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.588G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885139	0.51908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.55	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57198	0.2037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.969;0.998	T	0.57522	-0.7797	9	0.72032	D	0.01	-15.9773	5.0126	0.14321	0.1943:0.1741:0.6316:0.0	.	253;196	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	196;196;196;253;255;256;196	ENSP00000445016:K196N;ENSP00000380451:K196N;ENSP00000407714:K196N;ENSP00000417291:K253N;ENSP00000419789:K255N;ENSP00000419872:K256N;ENSP00000388287:K196N	ENSP00000380451:K196N	K	+	3	2	REPIN1	149699851	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.987000	0.40687	1.131000	0.42111	0.462000	0.41574	AAG		0.746	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		7	102	1	0	2.0095e-06	1	2.07161e-06	7	102					T	150068918	G	T	150068918	3	4	79	1	0	0	0	0	1	0	0	0	13277	962	34	3	765	3	REPIN1	7	150068918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85386	150068918	9069745	9042	19359											
REPIN1	29803	broad.mit.edu	37	chr7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacgtagctgaggccCtggaggaggccgcagccaag	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000425389.2	+	1	688	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	204					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(610-612)Ctg>Atg		replication initiator 1							8	10	9					7																	150068940		1812	4036	5848	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068940C>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.610C>A	7.37:g.150068940C>A	ENSP00000388287:p.Leu204Met					REPIN1_ENST00000425389.2_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	p.L204M	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1099	+	Ovarian(565;0.183)|Melanoma(164;0.226)		204					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.610C>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919909	0.33908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08720	3.09;3.09;3.09;3.06;3.4;3.2;3.09	5.08	2.25	0.28309	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.23691	-1.0181	9	0.87932	D	0	-10.3479	5.9616	0.19303	0.0:0.6793:0.0:0.3207	.	261;204	C9J3L7;Q9BWE0	.;REPI1_HUMAN	M	204;204;204;261;263;264;204	ENSP00000445016:L204M;ENSP00000380451:L204M;ENSP00000407714:L204M;ENSP00000417291:L261M;ENSP00000419789:L263M;ENSP00000419872:L264M;ENSP00000388287:L204M	ENSP00000380451:L204M	L	+	1	2	REPIN1	149699873	.	.	0.962000	0.40283	0.697000	0.40408	.	.	0.521000	0.28445	0.462000	0.41574	CTG		0.741	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		21	77	1	0	1.01871e-10	1	1.082e-10	21	77					A	150068940	C	A	150068940	3	1	79	1	0	0	0	0	1	0	0	0	13277	680	24	3	787	3	REPIN1	7	150068940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	150068940	9069723	9043	19360											
REPIN1	29803	broad.mit.edu	37	chr7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccacatccgggacggcGccttctgctgtgccatctgt	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000425389.2	+	1	1702	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1624-1626)Gcc>Acc		replication initiator 1							38	44	42					7																	150069954		2187	4292	6479	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069954G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1624G>A	7.37:g.150069954G>A	ENSP00000388287:p.Ala542Thr					REPIN1_ENST00000425389.2_Missense_Mutation_p.A542T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000479668.1_3'UTR	p.A542T	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2113	+	Ovarian(565;0.183)|Melanoma(164;0.226)		542					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1624G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373731	0.42105	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.17	3.24	0.37175	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18509	0.0444	N	0.13352	0.335	0.80722	D	1	B;B	0.22146	0.03;0.065	B;B	0.04013	0.001;0.001	T	0.10109	-1.0644	9	0.87932	D	0	-14.6073	11.6665	0.51376	0.0:0.1955:0.8045:0.0	.	599;542	C9J3L7;Q9BWE0	.;REPI1_HUMAN	T	542;542;542;599;542	ENSP00000445016:A542T;ENSP00000380451:A542T;ENSP00000407714:A542T;ENSP00000417291:A599T;ENSP00000388287:A542T	ENSP00000380451:A542T	A	+	1	0	REPIN1	149700887	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.903000	0.28475	2.171000	0.68590	0.563000	0.77884	GCC		0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		48	216	0	0	0	1	0	48	216					A	150069954	G	A	150069954	3	1	79	1	0	0	0	0	1	0	0	0	13277	1087	38	1	1801	1	REPIN1	7	150069954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1014	150069954	9068709	9044	19361											
ZNF775	285971	broad.mit.edu	37	chr7	150094568	150094568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgcaaccacacaggCgagcgcccgcacccctgccc	9	22	0	0	rs535894219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		4812	0.001		0.0	False		,,,				2504	0.0					ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(997-999)ggC>ggT		zinc finger protein 775							9	11	10					7																	150094568		2127	4227	6354	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094568C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.999C>T	7.37:g.150094568C>T							p.G333G	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1106	+	Ovarian(565;0.183)|Melanoma(164;0.226)		333					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.999C>T	CCDS43678.1																																																																																				0.726	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		16	104	0	0	0	1	0	16	104					T	150094568	C	T	150094568	2	4	79	1	0	0	0	0	0	0	0	1	18201	755	27	1		1	ZNF775	7	150094568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24614	150094568	9044095	9045	19362											
ZNF775	285971	broad.mit.edu	37	chr7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtggccgcggcttccgccaGaagcagcacctgctcaagca	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1042-1044)caG>caT		zinc finger protein 775							4	5	5					7																	150094613		1879	3801	5680	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094613G>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1044G>T	7.37:g.150094613G>T	ENSP00000330838:p.Gln348His						p.Q348H	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1151	+	Ovarian(565;0.183)|Melanoma(164;0.226)		348					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.1044G>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306995	0.60305	.	.	ENSG00000196456	ENST00000329630	T	0.15487	2.42	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	N	0.21142	0.635	0.29595	N	0.848147	P	0.47604	0.898	P	0.57204	0.815	T	0.03566	-1.1024	8	.	.	.	.	7.0796	0.25223	0.1239:0.0:0.8761:0.0	.	348	Q96BV0	ZN775_HUMAN	H	348	ENSP00000330838:Q348H	.	Q	+	3	2	ZNF775	149725546	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	0.056000	0.14256	1.931000	0.55961	0.313000	0.20887	CAG		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		8	42	1	0	1.12685e-05	1	1.15515e-05	8	42					T	150094613	G	T	150094613	3	4	79	1	0	0	0	0	1	0	0	0	18201	933	33	3	1050	3	ZNF775	7	150094613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	150094613	9044050	9046	19363											
GIMAP8	155038	broad.mit.edu	37	chr7	150171653	150171653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagagcaaaggcaggcGgacgagctcctggaaaaaat	14	7	0	2	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A412A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413													g|||	2	0.000399361	0.0	0.0014	5008	,	,		14061	0.0		0.001	False		,,,				2504	0.0					ENST00000307271.3																			1	Substitution - coding silent(1)	p.A412A(1)	lung(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1234-1236)gcG>gcA		GTPase, IMAP family member 8		A		0,4406		0,0,2203	91	99	96		1236	-2.8	0	7	dbSNP_134	96	9,8591	818.9+/-406.8	0,9,4291	no	coding-synonymous	GIMAP8	NM_175571.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		412/666	150171653	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171653G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1236G>A	7.37:g.150171653G>A							p.A412A	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1810	+			412						Silent	SNP	ENST00000307271.3	37	c.1236G>A	CCDS34777.1																																																																																				0.413	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		82	445	0	0	0	1	0	82	445					A	150171653	G	A	150171653	2	1	79	1	0	0	0	0	0	0	0	1	6414	1103	39	1		1	GIMAP8	7	150171653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77040	150171653	8967010	9047	19364											
GIMAP8	155038	broad.mit.edu	37	chr7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaacaggccaggcccagGaaacccaggtgaaagctctt	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	611	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGGCCCAGGAAACCCAGGT	0.453																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1831-1833)Gaa>Aaa		GTPase, IMAP family member 8							75	89	84					7																	150174701		2202	4300	6502	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174701G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1831G>A	7.37:g.150174701G>A	ENSP00000305107:p.Glu611Lys						p.E611K	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2405	+			611						Missense_Mutation	SNP	ENST00000307271.3	37	c.1831G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904574	0.72868	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	3.51	0.40186	AIG1 (1);	0.000000	0.44097	D	0.000486	T	0.15435	0.0372	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.00888	-1.1526	10	0.72032	D	0.01	.	10.3555	0.43960	0.0:0.1985:0.8015:0.0	.	611	Q8ND71	GIMA8_HUMAN	K	611	ENSP00000305107:E611K	ENSP00000305107:E611K	E	+	1	0	GIMAP8	149805634	0.002000	0.14202	0.024000	0.17045	0.006000	0.05464	0.487000	0.22356	2.321000	0.78463	0.655000	0.94253	GAA		0.453	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		101	499	0	0	0	1	0	101	499					A	150174701	G	A	150174701	3	1	79	1	0	0	0	0	1	0	0	0	6414	1175	41	2	1845	2	GIMAP8	7	150174701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048	150174701	8963962	9048	19365											
GIMAP4	55303	broad.mit.edu	37	chr7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgaattaatcatgacaGcgttacagattgcttccttt	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	314						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCATGACAGCGTTACAGAT	0.408																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(940-942)Gcg>Acg		GTPase, IMAP family member 4							136	117	123					7																	150270098		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150270098G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.940G>A	7.37:g.150270098G>A	ENSP00000255945:p.Ala314Thr					GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	p.A314T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1115	+			314						Missense_Mutation	SNP	ENST00000255945.2	37	c.940G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136903	0.21123	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.05855	3.41;3.38	4.82	-4.67	0.03319	.	3.210380	0.00977	N	0.003336	T	0.05456	0.0144	L	0.53249	1.67	0.09310	N	1	B;B	0.17465	0.021;0.022	B;B	0.15484	0.013;0.008	T	0.37979	-0.9682	10	0.11794	T	0.64	.	0.1662	0.00108	0.305:0.229:0.233:0.2329	.	328;314	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	314;328;246	ENSP00000255945:A314T;ENSP00000419545:A328T	ENSP00000255945:A314T	A	+	1	0	GIMAP4	149901031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.027000	0.03592	-0.930000	0.03752	-0.169000	0.13324	GCG		0.408	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		16	352	0	0	0	1	0	16	352					A	150270098	G	A	150270098	3	1	79	1	0	0	0	0	1	0	0	0	6410	971	34	2	946	2	GIMAP4	7	150270098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95397	150270098	8868565	9049	19366											
GIMAP1	170575	broad.mit.edu	37	chr7	150417218	150417218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggggccgggaagagcgcCactgggaacagcatcctggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	42	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAGCGCCACTGGGAACA	0.627																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(124-126)gcC>gcA		GTPase, IMAP family member 1							74	81	78					7																	150417218		2203	4300	6503	SO:0001819	synonymous_variant	170575							g.chr7:150417218C>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.126C>A	7.37:g.150417218C>A							p.A42A	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	266	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.126C>A	CCDS5906.1																																																																																				0.627	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		164	672	1	0	1.69274e-77	1	2.16115e-77	164	672					A	150417218	C	A	150417218	2	1	79	1	0	0	0	0	0	0	0	1	6408	581	21	3		3	GIMAP1	7	150417218	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147120	150417218	8721445	9050	19367											
GIMAP1	170575	broad.mit.edu	37	chr7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcaggaagcccaggtgGagcagctgctggggatggtc	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	202	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCCAGGTGGAGCAGCTGCT	0.682																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(604-606)Gag>Aag		GTPase, IMAP family member 1							23	29	27					7																	150417696		2202	4300	6502	SO:0001583	missense	170575							g.chr7:150417696G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.604G>A	7.37:g.150417696G>A	ENSP00000302833:p.Glu202Lys						p.E202K	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	744	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.604G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148281	0.01714	.	.	ENSG00000213203	ENST00000307194	T	0.05081	3.5	4.81	-9.61	0.00550	AIG1 (1);	1.483890	0.04627	U	0.402865	T	0.01730	0.0055	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.02654	T	1	.	9.6635	0.39969	0.3531:0.5014:0.1455:0.0	.	202	Q8WWP7	GIMA1_HUMAN	K	202	ENSP00000302833:E202K	ENSP00000302833:E202K	E	+	1	0	GIMAP1	150048629	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.913000	0.00697	-2.035000	0.00923	-0.172000	0.13284	GAG		0.682	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		27	149	0	0	0	1	0	27	149					A	150417696	G	A	150417696	3	1	79	1	0	0	0	0	1	0	0	0	6408	1175	41	2	610	2	GIMAP1	7	150417696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	150417696	8720967	9051	19368											
GIMAP5	55340	broad.mit.edu	37	chr7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagagtaactgggcatAcaaggcgctcctcagagtca	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	269					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTGGGCATACAAGGCGCTC	0.453																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(805-807)tAc>tGc		GTPase, IMAP family member 5							104	77	86					7																	150440033		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150440033A>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.806A>G	7.37:g.150440033A>G	ENSP00000351473:p.Tyr269Cys					GIMAP5_ENST00000479556.1_3'UTR	p.Y269C	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1173	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.806A>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	3.517	-0.098624	0.07010	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05786	3.39	4.12	-8.24	0.01029	.	3.840650	0.00550	N	0.000240	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.38643	T	0.18	.	6.2565	0.20877	0.2077:0.0806:0.5671:0.1446	.	269	Q96F15	GIMA5_HUMAN	C	269;305	ENSP00000351473:Y269C	ENSP00000351473:Y269C	Y	+	2	0	GIMAP5	150070966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.358000	0.00069	-2.620000	0.00440	-2.048000	0.00412	TAC		0.453	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		54	276	0	0	0	1	0	54	276					G	150440033	A	G	150440033	3	3	79	1	0	0	0	0	1	0	0	0	6411	391	14	4	812	4	GIMAP5	7	150440033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22337	150440033	8698630	9052	19369											
ABP1	26	broad.mit.edu	37	chr7	150554395	150554395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacagcacagaggagccGcccctcttctcctcccacaa	7	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554395G>A	ENST00000493429.1	+	4	1421	c.837G>A	c.(835-837)ccG>ccA	p.P279P	AOC1_ENST00000360937.4_Silent_p.P279P|AOC1_ENST00000416793.2_Silent_p.P279P|AOC1_ENST00000467291.1_Silent_p.P279P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	279					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CAGAGGAGCCGCCCCTCTTCT	0.682																																						ENST00000493429.1																			0											c.(835-837)ccG>ccA		amine oxidase, copper containing 1							18	22	21					7																	150554395		1999	4152	6151	SO:0001819	synonymous_variant	26							g.chr7:150554395G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.837G>A	7.37:g.150554395G>A						AOC1_ENST00000467291.1_Silent_p.P279P|AOC1_ENST00000360937.4_Silent_p.P279P|AOC1_ENST00000416793.2_Silent_p.P279P	p.P279P							4	1421	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.837G>A	CCDS43679.1																																																																																				0.682	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		24	98	0	0	0	1	0	24	98					A	150554395	G	A	150554395	2	1	79	1	0	0	0	0	0	0	0	1	98	1074	38	1		1	ABP1	7	150554395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114362	150554395	8584268	9053	19370											
ABP1	26	broad.mit.edu	37	chr7	150554912	150554912	+	Silent	SNP	C	C	T													tgaagggccaggtgctggtgCtgcggacaacttcaactgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554912C>T	ENST00000493429.1	+	4	1938	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	AOC1_ENST00000360937.4_Silent_p.L452L|AOC1_ENST00000416793.2_Silent_p.L452L|AOC1_ENST00000467291.1_Silent_p.L452L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	452					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGTGCTGGTGCTGCGGACAAC	0.512																																						ENST00000493429.1																			0											c.(1354-1356)Ctg>Ttg		amine oxidase, copper containing 1							66	72	70					7																	150554912		2033	4188	6221	SO:0001819	synonymous_variant	26							g.chr7:150554912C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1354C>T	7.37:g.150554912C>T						AOC1_ENST00000467291.1_Silent_p.L452L|AOC1_ENST00000360937.4_Silent_p.L452L|AOC1_ENST00000416793.2_Silent_p.L452L	p.L452L							4	1938	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1354C>T	CCDS43679.1																																																																																				0.512	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		38	259	0	0	0	1	0	38	259					T	150554912	C	T	150554912	2	4	79	1	0	0	0	0	0	0	0	1	98	796	28	2		2	ABP1	7	150554912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	150554912	8583751	9054	19371	118	2									
ABP1	26	broad.mit.edu	37	chr7	150554915	150554915	+	Missense_Mutation	SNP	C	C	T													agggccaggtgctggtgctgCggacaacttcaactgtctac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554915C>T	ENST00000493429.1	+	4	1941	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	AOC1_ENST00000360937.4_Missense_Mutation_p.R453W|AOC1_ENST00000416793.2_Missense_Mutation_p.R453W|AOC1_ENST00000467291.1_Missense_Mutation_p.R453W			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	453					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCTGGTGCTGCGGACAACTTC	0.517																																						ENST00000493429.1																			0											c.(1357-1359)Cgg>Tgg		amine oxidase, copper containing 1							67	73	71					7																	150554915		2035	4189	6224	SO:0001583	missense	26							g.chr7:150554915C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1357C>T	7.37:g.150554915C>T	ENSP00000418614:p.Arg453Trp					AOC1_ENST00000467291.1_Missense_Mutation_p.R453W|AOC1_ENST00000360937.4_Missense_Mutation_p.R453W|AOC1_ENST00000416793.2_Missense_Mutation_p.R453W	p.R453W							4	1941	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1357C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939726	0.52972	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	4.96	4.06	0.47325	Copper amine oxidase, C-terminal (3);	0.082441	0.64402	D	0.000020	T	0.31544	0.0800	M	0.93507	3.425	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.29243	-1.0018	10	0.87932	D	0	-14.8057	10.5331	0.44988	0.3708:0.6292:0.0:0.0	.	453;453	C9J690;P19801	.;ABP1_HUMAN	W	453;453;453;453;329	ENSP00000418614:R453W;ENSP00000418328:R453W;ENSP00000354193:R453W;ENSP00000411613:R453W	ENSP00000354193:R453W	R	+	1	2	ABP1	150185848	0.272000	0.24172	0.975000	0.42487	0.875000	0.50365	0.725000	0.25970	1.419000	0.47118	0.561000	0.74099	CGG		0.517	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		53	245	0	0	0	1	0	53	245					T	150554915	C	T	150554915	3	4	79	1	0	0	0	0	1	0	0	0	98	759	27	1	1359	1	ABP1	7	150554915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	150554915	8583748	9055	19372	118	2									
ABP1	26	broad.mit.edu	37	chr7	150558089	150558089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccactcagaggacattcCcaacacagccacacctggga	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150558089C>T	ENST00000493429.1	+	7	2632	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	683					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GAGGACATTCCCAACACAGCC	0.622																																						ENST00000493429.1																			0											c.(2047-2049)cCc>cTc		amine oxidase, copper containing 1							63	76	72					7																	150558089		2066	4207	6273	SO:0001583	missense	26							g.chr7:150558089C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2048C>T	7.37:g.150558089C>T	ENSP00000418614:p.Pro683Leu					AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L|AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L	p.P683L							7	2632	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2048C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382046	0.82792	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.01	4.13	0.48395	Copper amine oxidase, C-terminal (3);	0.178483	0.50627	D	0.000120	T	0.69886	0.3161	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.75921	-0.3147	10	0.87932	D	0	-47.003	10.9465	0.47304	0.0:0.9084:0.0:0.0916	.	702;683	C9J690;P19801	.;ABP1_HUMAN	L	683;683;683;702;559	ENSP00000418614:P683L;ENSP00000418328:P683L;ENSP00000354193:P683L;ENSP00000411613:P702L	ENSP00000354193:P683L	P	+	2	0	ABP1	150189022	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.421000	0.80204	1.108000	0.41662	0.484000	0.47621	CCC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		65	328	0	0	0	1	0	65	328					T	150558089	C	T	150558089	3	4	79	1	0	0	0	0	1	0	0	0	98	623	22	2	2062	2	ABP1	7	150558089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3174	150558089	8580574	9056	19373											
KCNH2	3757	broad.mit.edu	37	chr7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T													gcacatgagcaagaacagcaCggccgcgccgtactctgagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000262186.5	-	7	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	549					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1357-1359)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						68	56	60					7																	150648836		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648836C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1645G>A	7.37:g.150648836C>T	ENSP00000262186:p.Val549Met					KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000262186.5_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	p.V453M			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2477	-	all_neural(206;0.219)		549					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1357G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150737	0.57151	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.71206	2.165	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;0.961;0.995;0.975	D;D;P;P;P	0.91635	0.999;0.997;0.557;0.906;0.526	D	0.98021	1.0371	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	453;549;209;549;209	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	M	209;453;549;209;549	ENSP00000328531:V209M;ENSP00000376695:V453M;ENSP00000262186:V549M;ENSP00000387657:V549M	ENSP00000262186:V549M	V	-	1	0	KCNH2	150279769	1.000000	0.71417	0.992000	0.48379	0.132000	0.20833	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GTG		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		47	223	0	0	0	1	0	47	223					T	150648836	C	T	150648836	3	4	79	1	0	0	0	0	1	0	0	0	8062	536	19	1	2139	1	KCNH2	7	150648836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90747	150648836	8489827	9057	19374	119	2									
KCNH2	3757	broad.mit.edu	37	chr7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T													gagcaagaacagcacggccgCgccgtactctgagtagcgat					rs376021230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000262186.5	-	7	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T|KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	547					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.A547T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Substitution - Missense(1)	p.A547T(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1351-1353)Gcg>Acg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	60	51	54		1639,619,1639,619	4.1	1	7		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	547/1160,207/549,547/889,207/820	150648842	1,13005	2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648842C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1639G>A	7.37:g.150648842C>T	ENSP00000262186:p.Ala547Thr					KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000262186.5_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T	p.A451T			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2471	-	all_neural(206;0.219)		547		P -> L (in LQT2).			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1351G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678089	0.68042	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	L	0.55017	1.72	0.54753	D	0.999987	D;D;P;D;P	0.89917	1.0;1.0;0.665;0.976;0.607	D;D;B;P;B	0.85130	0.997;0.995;0.255;0.782;0.23	D	0.99032	1.0821	10	0.87932	D	0	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	451;547;207;547;207	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	T	207;451;547;207;547	ENSP00000328531:A207T;ENSP00000376695:A451T;ENSP00000262186:A547T;ENSP00000387657:A547T	ENSP00000262186:A547T	A	-	1	0	KCNH2	150279775	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GCG		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		45	209	0	0	0	1	0	45	209					T	150648842	C	T	150648842	3	4	79	1	0	0	0	0	1	0	0	0	8062	768	27	1	2145	1	KCNH2	7	150648842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	150648842	8489821	9058	19375	119	2									
NOS3	4846	broad.mit.edu	37	chr7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaggggcccaagttccctCgtgtgaagaactgggaggtg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000484524.1	+	2	208	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000297494.3_Missense_Mutation_p.R70C	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGTTCCCTCGTGTGAAGAA	0.637																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(208-210)Cgt>Tgt		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						37	40	39					7																	150692340		2201	4296	6497	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150692340C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.208C>T	7.37:g.150692340C>T	ENSP00000420215:p.Arg70Cys					NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Missense_Mutation_p.R70C	p.R70C	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	565	+	all_neural(206;0.219)		70					Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.208C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.017679	0.54576	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26067	1.76;1.76;1.76	4.2	-0.186	0.13272	Nitric oxide synthase, oxygenase domain (1);	0.000000	0.44902	D	0.000418	T	0.33177	0.0854	L	0.43923	1.385	0.40527	D	0.980891	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.67725	0.771;0.876;0.953;0.905	T	0.12656	-1.0539	10	0.87932	D	0	-23.0284	6.1525	0.20320	0.4592:0.4455:0.0:0.0952	.	70;70;70;70	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	C	70	ENSP00000297494:R70C;ENSP00000420215:R70C;ENSP00000420551:R70C	ENSP00000297494:R70C	R	+	1	0	NOS3	150323273	0.008000	0.16893	0.966000	0.40874	0.698000	0.40448	0.878000	0.28126	0.300000	0.22699	-0.174000	0.13273	CGT		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		19	156	0	0	0	1	0	19	156					T	150692340	C	T	150692340	3	4	79	1	0	0	0	0	1	0	0	0	10586	884	31	1	214	1	NOS3	7	150692340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43498	150692340	8446323	9059	19376											
NOS3	4846	broad.mit.edu	37	chr7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggggacccagccaacGtggagatcaccgaggtgggc	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000484524.1	+	6	802	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000297494.3_Missense_Mutation_p.V268M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGCCAACGTGGAGATCAC	0.662																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(802-804)Gtg>Atg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						12	13	13					7																	150695754		2178	4268	6446	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695754G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.802G>A	7.37:g.150695754G>A	ENSP00000420215:p.Val268Met					NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000484524.1_Missense_Mutation_p.V268M	p.V268M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1159	+	all_neural(206;0.219)		268			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.802G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.198993	0.79015	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.111909	0.37857	N	0.001908	T	0.58892	0.2154	M	0.86805	2.84	0.48975	D	0.999739	D;D;D;D;D	0.64830	0.987;0.987;0.987;0.984;0.994	P;P;P;P;P	0.54499	0.689;0.689;0.754;0.636;0.638	T	0.67845	-0.5565	10	0.72032	D	0.01	-12.9524	16.4458	0.83932	0.0:0.0:1.0:0.0	.	268;268;268;62;268	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	268;62;268;268	ENSP00000297494:V268M;ENSP00000417143:V62M;ENSP00000420215:V268M;ENSP00000420551:V268M	ENSP00000297494:V268M	V	+	1	0	NOS3	150326687	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.725000	0.68507	2.548000	0.85928	0.637000	0.83480	GTG		0.662	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		9	67	0	0	0	1	0	9	67					A	150695754	G	A	150695754	3	1	79	1	0	0	0	0	1	0	0	0	10586	1145	40	1	824	1	NOS3	7	150695754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3414	150695754	8442909	9060	19377											
NOS3	4846	broad.mit.edu	37	chr7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggaaattgggggcCtggagttccccgcagccccc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000484524.1	+	8	1036	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000297494.3_Missense_Mutation_p.L346M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATTGGGGGCCTGGAGTTCCC	0.637																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1036-1038)Ctg>Atg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						81	87	85					7																	150696357		2201	4296	6497	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696357C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1036C>A	7.37:g.150696357C>A	ENSP00000420215:p.Leu346Met					NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000484524.1_Missense_Mutation_p.L346M	p.L346M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1393	+	all_neural(206;0.219)		346			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1036C>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096264	0.76870	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33216	1.5;1.42;1.5;1.5	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.44902	D	0.000414	T	0.56156	0.1966	M	0.71920	2.185	0.48087	D	0.99958	P;P;D;D;D	0.89917	0.951;0.951;0.99;1.0;0.999	D;D;D;D;D	0.97110	0.935;0.948;0.978;1.0;0.978	T	0.59563	-0.7431	10	0.87932	D	0	-8.473	16.5106	0.84283	0.0:1.0:0.0:0.0	.	346;346;346;140;346	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	346;140;346;346	ENSP00000297494:L346M;ENSP00000417143:L140M;ENSP00000420215:L346M;ENSP00000420551:L346M	ENSP00000297494:L346M	L	+	1	2	NOS3	150327290	0.993000	0.37304	0.995000	0.50966	0.996000	0.88848	3.120000	0.50430	2.479000	0.83701	0.639000	0.83563	CTG		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		102	670	1	0	2.68873e-43	1	3.28104e-43	102	670					A	150696357	C	A	150696357	3	1	79	1	0	0	0	0	1	0	0	0	10586	680	24	3	1066	3	NOS3	7	150696357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603	150696357	8442306	9061	19378											
NOS3	4846	broad.mit.edu	37	chr7	150696386	150696386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagcccccttcagtggCtggtacatgagcactgagat	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000484524.1	+	8	1065	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000297494.3_Silent_p.G355G	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCAGTGGCTGGTACATGA	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1063-1065)ggC>ggT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						90	95	93					7																	150696386		2201	4293	6494	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696386C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1065C>T	7.37:g.150696386C>T						NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000484524.1_Silent_p.G355G	p.G355G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1422	+	all_neural(206;0.219)		355			Interaction with NOSIP.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1065C>T	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		111	696	0	0	0	1	0	111	696					T	150696386	C	T	150696386	2	4	79	1	0	0	0	0	0	0	0	1	10586	784	28	2		2	NOS3	7	150696386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	150696386	8442277	9062	19379											
NOS3	4846	broad.mit.edu	37	chr7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G													ggagaatgagcagaaggccaINSgggggggctgccctgcagac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698397_150698398insG	ENST00000484524.1	+	10	1312_1313	c.1312_1313insG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000461406.1_Frame_Shift_Ins_p.R232fs|NOS3_ENST00000467517.1_Frame_Shift_Ins_p.R438fs|NOS3_ENST00000297494.3_Frame_Shift_Ins_p.R438fs	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGAAGGCCAGGGGGGGCTGC	0.614																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1312-1314)gggfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698397_150698398insG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1319dupG	7.37:g.150698404_150698404dupG	ENSP00000420215:p.Arg438fs					NOS3_ENST00000467517.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000484524.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.G232fs	p.G438fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1669_1670	+	all_neural(206;0.219)		438			Interaction with NOSIP.		Q495E5	Frame_Shift_Ins	INS	ENST00000484524.1	37	c.1312_1313insG	CCDS55182.1																																																																																				0.614	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		85	464						85	464	---	---	---	---	G	150698398	-	G	150698397	7	5	79	1	0	1	1	0	0	0	0	0	10586	179	7	0	1350	0	NOS3	7	150698397	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2011	150698397	8440266	9063	19380											
NOS3	4846	broad.mit.edu	37	chr7	150698688	150698688	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaccaggaagaagacCtttaaagaagtggccaagtg	12	8	1	3	rs149990866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000484524.1	+	11	1485	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000297494.3_Silent_p.T495T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAAGACCTTTAAAGAAG	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1483-1485)acC>acA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						108	130	122					7																	150698688		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698688C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1485C>A	7.37:g.150698688C>A						NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000484524.1_Silent_p.T495T	p.T495T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1842	+	all_neural(206;0.219)		495			Calmodulin-binding (Potential).		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1485C>A	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		204	1122	1	0	3.53585e-47	1	4.35019e-47	204	1122					A	150698688	C	A	150698688	2	1	79	1	0	0	0	0	0	0	0	1	10586	668	24	3		3	NOS3	7	150698688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291	150698688	8439975	9064	19381											
NOS3	4846	broad.mit.edu	37	chr7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttccgaggctgggcccaGgctgccttccaggtgagccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGGCCCAGGCTGCCTTCC	0.682																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2098-2100)caG>caT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						16	22	20					7																	150704352		2199	4287	6486	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704352G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2100G>T	7.37:g.150704352G>T	ENSP00000297494:p.Gln700His					NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	p.Q700H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2457	+	all_neural(206;0.219)		700			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.2100G>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305078	0.40795	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59638	0.25;0.25	5.43	3.38	0.38709	Flavodoxin/nitric oxide synthase (1);	0.326899	0.25511	N	0.030170	T	0.45034	0.1322	L	0.38531	1.155	0.80722	D	1	P;P	0.42785	0.553;0.79	B;B	0.42738	0.396;0.396	T	0.38650	-0.9651	10	0.46703	T	0.11	-17.7321	4.8809	0.13679	0.3627:0.0:0.6373:0.0	.	494;700	E7ESA7;P29474	.;NOS3_HUMAN	H	700;494	ENSP00000297494:Q700H;ENSP00000417143:Q494H	ENSP00000297494:Q700H	Q	+	3	2	NOS3	150335285	0.736000	0.28164	0.998000	0.56505	0.964000	0.63967	0.549000	0.23329	1.304000	0.44892	0.561000	0.74099	CAG		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		47	187	1	0	2.77807e-22	1	3.14147e-22	47	187					T	150704352	G	T	150704352	3	4	79	1	0	0	0	0	1	0	0	0	10586	991	35	3	2444	3	NOS3	7	150704352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5664	150704352	8434311	9065	19382											
NOS3	4846	broad.mit.edu	37	chr7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcttgcagggctgcaGcccactcccatgactttggt	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGCTGCAGCCCACTCCCA	0.672											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3112-3114)caG>caT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						74	76	75					7																	150710326		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150710326G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3114G>T	7.37:g.150710326G>T	ENSP00000297494:p.Gln1038His		OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|ATG9B_ENST00000377974.2_3'UTR	p.Q1038H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	25	3471	+	all_neural(206;0.219)		1038					Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.3114G>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466791	0.43839	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.86562	-2.14;-2.14	4.08	2.05	0.26809	Oxidoreductase FAD/NAD(P)-binding (1);	0.389995	0.22255	N	0.062486	T	0.75939	0.3918	N	0.21142	0.635	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.70296	-0.4911	10	0.54805	T	0.06	-6.9989	6.9468	0.24522	0.1009:0.0:0.7277:0.1715	.	832;1038	E7ESA7;P29474	.;NOS3_HUMAN	H	1038;832	ENSP00000297494:Q1038H;ENSP00000417143:Q832H	ENSP00000297494:Q1038H	Q	+	3	2	NOS3	150341259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.259000	0.32956	1.025000	0.39708	0.484000	0.47621	CAG		0.672	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		94	434	1	0	1.69331e-39	1	2.04788e-39	94	434					T	150710326	G	T	150710326	3	4	79	1	0	0	0	0	1	0	0	0	10586	962	34	3	3490	3	NOS3	7	150710326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5974	150710326	8428337	9066	19383											
ACCN3	9311	broad.mit.edu	37	chr7	150746232	150746232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaccggctcatcttccCggctgtcaccctgtgcaaca	8	17	3	0	rs140048490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746232C>T	ENST00000349064.5	+	1	458	c.260C>T	c.(259-261)cCg>cTg	p.P87L	ASIC3_ENST00000297512.8_Missense_Mutation_p.P87L|ASIC3_ENST00000357922.4_Missense_Mutation_p.P87L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	87					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.P87Q(4)									CTCATCTTCCCGGCTGTCACC	0.647																																						ENST00000357922.4																			4	Substitution - Missense(4)	p.P87Q(4)	large_intestine(2)|lung(2)								c.(259-261)cCg>cTg		acid-sensing (proton-gated) ion channel 3		C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	116	93	101		260,260,260	5.1	1	7	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	87/532,87/550,87/544	150746232	1,13005	2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746232C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.260C>T	7.37:g.150746232C>T	ENSP00000344838:p.Pro87Leu					ASIC3_ENST00000349064.5_Missense_Mutation_p.P87L|ASIC3_ENST00000297512.8_Missense_Mutation_p.P87L	p.P87L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	854	+			87					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.260C>T	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737576	0.69304	2.27E-4	0.0	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	D;D;D	0.87256	-2.23;-2.23;-2.23	5.11	5.11	0.69529	.	0.000000	0.33813	U	0.004536	D	0.94781	0.8315	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.95694	0.8743	10	0.87932	D	0	-16.9416	16.3968	0.83610	0.0:1.0:0.0:0.0	.	87;87;87	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	L	87	ENSP00000350600:P87L;ENSP00000344838:P87L;ENSP00000297512:P87L	ENSP00000297512:P87L	P	+	2	0	ACCN3	150377165	1.000000	0.71417	0.964000	0.40570	0.022000	0.10575	6.044000	0.71012	2.549000	0.85964	0.561000	0.74099	CCG		0.647	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		92	446	0	0	0	1	0	92	446					T	150746232	C	T	150746232	3	4	79	1	0	0	0	0	1	0	0	0	130	652	23	1	262	1	ACCN3	7	150746232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35906	150746232	8392431	9067	19384											
ACCN3	9311	broad.mit.edu	37	chr7	150746403	150746403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcccagtcccacctTtgacatggcgcaactctatg	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746403T>G	ENST00000349064.5	+	1	629	c.431T>G	c.(430-432)tTt>tGt	p.F144C	ASIC3_ENST00000297512.8_Missense_Mutation_p.F144C|ASIC3_ENST00000357922.4_Missense_Mutation_p.F144C	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	144					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										AGTCCCACCTTTGACATGGCG	0.677																																						ENST00000357922.4																			0											c.(430-432)tTt>tGt		acid-sensing (proton-gated) ion channel 3							52	53	53					7																	150746403		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746403T>G	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.431T>G	7.37:g.150746403T>G	ENSP00000344838:p.Phe144Cys					ASIC3_ENST00000349064.5_Missense_Mutation_p.F144C|ASIC3_ENST00000297512.8_Missense_Mutation_p.F144C	p.F144C	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	1025	+			144					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.431T>G	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805760	0.70682	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.66995	-0.24;-0.24;-0.24	5.29	4.0	0.46444	.	0.250837	0.20540	U	0.090326	T	0.80670	0.4667	M	0.87269	2.87	0.36503	D	0.869135	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.70016	0.944;0.967;0.961	D	0.84765	0.0764	10	0.72032	D	0.01	-14.7272	7.5997	0.28069	0.3115:0.0:0.0:0.6885	.	144;144;144	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	C	144	ENSP00000350600:F144C;ENSP00000344838:F144C;ENSP00000297512:F144C	ENSP00000297512:F144C	F	+	2	0	ACCN3	150377336	0.136000	0.22515	1.000000	0.80357	0.925000	0.55904	0.467000	0.22035	2.142000	0.66516	0.459000	0.35465	TTT		0.677	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		65	260	0	0	0	1	0	65	260					G	150746403	T	G	150746403	3	3	79	1	0	0	0	0	1	0	0	0	130	1841	64	4	433	4	ACCN3	7	150746403	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171	150746403	8392260	9068	19385											
FASTK	10922	broad.mit.edu	37	chr7	150775933	150775933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccccctccagcacctgcCaggctgctgatcagatgctg	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	FASTK_ENST00000482571.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	227					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(679-681)ctG>ctA		Fas-activated serine/threonine kinase							26	27	26					7																	150775933		2202	4299	6501	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775933C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.681G>A	7.37:g.150775933C>T						FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L	p.L227L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	758	-			227					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.681G>A	CCDS5918.1																																																																																				0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		37	151	0	0	0	1	0	37	151					T	150775933	C	T	150775933	2	4	79	1	0	0	0	0	0	0	0	1	5709	581	21	2		2	FASTK	7	150775933	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29530	150775933	8362730	9069	19386											
FASTK	10922	broad.mit.edu	37	chr7	150776915	150776915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccccaaacagcagggCtgtactggagggatcagcag	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000297532.6	-	2	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000540185.1_Silent_p.Q25Q|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	59					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637																																						ENST00000540185.1																			0				lung(4)|stomach(2)	6						c.(73-75)caG>caA		Fas-activated serine/threonine kinase							25	17	20					7																	150776915		2198	4298	6496	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776915C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.177G>A	7.37:g.150776915C>T						FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Silent_p.Q59Q	p.Q25Q			Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	2	679	-			59					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.75G>A	CCDS5918.1																																																																																				0.637	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		17	50	0	0	0	1	0	17	50					T	150776915	C	T	150776915	2	4	79	1	0	0	0	0	0	0	0	1	5709	796	28	2		2	FASTK	7	150776915	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	982	150776915	8361748	9070	19387											
AGAP3	116988	broad.mit.edu	37	chr7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagctgaggtactcagttCcagccccaagctggatcctc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000397238.2	+	13	1694	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	529	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1693-1695)tCc>tTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							22	29	27					7																	150837093		1946	4135	6081	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150837093C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1694C>T	7.37:g.150837093C>T	ENSP00000380413:p.Ser565Phe					AGAP3_ENST00000463381.1_Intron	p.S565F	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			13	1694	+			529			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1694C>T	CCDS43681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765334|4.765334	0.90020|0.90020	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000397232;ENST00000397238;ENST00000335355	.|T	.|0.70164	.|-0.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.775970	.|0.11883	.|N	.|0.520288	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;D	.|0.71674	.|0.943;0.998	.|B;P	.|0.61132	.|0.445;0.884	T|T	0.73325|0.73325	-0.4018|-0.4018	5|10	.|0.66056	.|D	.|0.02	.|.	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;565	.|E7ETI2;Q96P47-4	.|.;.	S|F	58|64;565;529	.|ENSP00000380413:S565F	.|ENSP00000334157:S529F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150468026|150468026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.562000|4.562000	0.60816|0.60816	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.652	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		10	54	0	0	0	1	0	10	54					T	150837093	C	T	150837093	3	4	79	1	0	0	0	0	1	0	0	0	369	855	30	2	1811	2	AGAP3	7	150837093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60178	150837093	8301570	9071	19388											
AGAP3	116988	broad.mit.edu	37	chr7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgctgtgcgacagactCgactggggaaccagaacgca	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000463381.1	+	13	1466	c.970C>T	c.(970-972)Cga>Tga	p.R324*	AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	619	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1963-1965)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							141	150	147					7																	150839253		2086	4212	6298	SO:0001587	stop_gained	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839253C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.970C>T	7.37:g.150839253C>T	ENSP00000418016:p.Arg324*					AGAP3_ENST00000463381.1_Nonsense_Mutation_p.R324*	p.R655*	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			15	1963	+			619			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Nonsense_Mutation	SNP	ENST00000463381.1	37	c.1963C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.899776	0.98996	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.	.	.	4.77	3.87	0.44632	.	0.186266	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1854	0.59677	0.161:0.839:0.0:0.0	.	.	.	.	X	324;154;655;619	.	ENSP00000334157:R619X	R	+	1	2	AGAP3	150470186	1.000000	0.71417	0.264000	0.24511	0.574000	0.36063	4.588000	0.60999	1.088000	0.41272	0.655000	0.94253	CGA		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		72	1431	0	0	0	1	0	72	1431					T	150839253	C	T	150839253	4	4	79	1	0	0	0	0	0	1	0	0	369	876	31	1	2088	1	AGAP3	7	150839253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2160	150839253	8299410	9072	19389											
AGAP3	116988	broad.mit.edu	37	chr7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgccatggccaacgTtgtcttcacgcagctgctca	9	15	3	0	rs201379216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000463381.1	+	15	2007	c.1511T>G	c.(1510-1512)gTt>gGt	p.V504G	AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	799	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2503-2505)gTt>gGt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							110	118	115					7																	150840658		2169	4255	6424	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840658T>G	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1511T>G	7.37:g.150840658T>G	ENSP00000418016:p.Val504Gly					AGAP3_ENST00000463381.1_Missense_Mutation_p.V504G	p.V835G	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			17	2504	+			799					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2504T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378686|3.378686	0.61735|0.61735	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66638	.|-0.22;-0.22	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.153604	.|0.44902	.|D	.|0.000411	T|T	0.78811|0.78811	0.4342|0.4342	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.974;0.928;0.999	.|D;P;P;D	.|0.97110	.|1.0;0.901;0.74;0.997	T|T	0.80997|0.80997	-0.1132|-0.1132	5|10	.|0.87932	.|D	.|0	.|.	14.5549|14.5549	0.68094|0.68094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|799;334;835;504	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	V|G	328|504;334;835;799	.|ENSP00000418016:V504G;ENSP00000380413:V835G	.|ENSP00000334157:V799G	L|V	+|+	1|2	2|0	AGAP3|AGAP3	150471591|150471591	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.406000|0.406000	0.30931|0.30931	7.863000|7.863000	0.87023|0.87023	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.567	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		80	370	0	0	0	1	0	80	370					G	150840658	T	G	150840658	3	3	79	1	0	0	0	0	1	0	0	0	369	1725	60	4	2637	4	AGAP3	7	150840658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1405	150840658	8298005	9073	19390											
GBX1	2636	broad.mit.edu	37	chr7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgagctgtacaccttcccCtctgctgtgaggagcaagaa	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	181					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(541-543)gaG>gaT		gastrulation brain homeobox 1							144	153	150					7																	150846225		2031	4190	6221	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846225C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.543G>T	7.37:g.150846225C>A	ENSP00000297537:p.Glu181Asp						p.E181D	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	542	-			181						Missense_Mutation	SNP	ENST00000297537.4	37	c.543G>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829649	0.32329	.	.	ENSG00000164900	ENST00000297537	D	0.91996	-2.95	5.12	5.12	0.69794	.	0.000000	0.56097	U	0.000030	T	0.81408	0.4816	N	0.08118	0	0.80722	D	1	B	0.24920	0.114	B	0.24974	0.057	T	0.76542	-0.2921	10	0.18276	T	0.48	-28.0536	10.0885	0.42432	0.1519:0.7012:0.147:0.0	.	181	Q14549	GBX1_HUMAN	D	181	ENSP00000297537:E181D	ENSP00000297537:E181D	E	-	3	2	GBX1	150477158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.398000	0.81561	0.591000	0.81541	GAG		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			310	1274	1	0	5.60145e-70	1	7.11217e-70	310	1274					A	150846225	C	A	150846225	3	1	79	1	0	0	0	0	1	0	0	0	6308	680	24	3	551	3	GBX1	7	150846225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5567	150846225	8292438	9074	19391											
GBX1	2636	broad.mit.edu	37	chr7	150864194	150864194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcatcagcttccaGcccaccctctgggcgtcggc	10	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	148	Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(442-444)Ctg>Ttg		gastrulation brain homeobox 1							18	23	21					7																	150864194		1863	4094	5957	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150864194G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.442C>T	7.37:g.150864194G>A						GBX1_ENST00000475831.1_5'UTR	p.L148L	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	441	-			148			Pro-rich.			Silent	SNP	ENST00000297537.4	37	c.442C>T	CCDS43682.1																																																																																				0.701	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			48	207	0	0	0	1	0	48	207					A	150864194	G	A	150864194	2	1	79	1	0	0	0	0	0	0	0	1	6308	962	34	2		2	GBX1	7	150864194	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17969	150864194	8274469	9075	19392											
ASB10	136371	broad.mit.edu	37	chr7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctcacctagtagagcaCgccctcaaaatccagctgca	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000420175.2	-	5	1417	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ASB10_ENST00000377867.3_Missense_Mutation_p.V450M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672																																						ENST00000422024.1																			2	Substitution - Missense(2)	p.V427L(1)|p.V465L(1)	lung(2)	NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1528-1530)Gtg>Atg		ankyrin repeat and SOCS box containing 10							24	26	25					7																	150873210		2199	4295	6494	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150873210C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1393G>A	7.37:g.150873210C>T	ENSP00000391137:p.Val465Met					ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000420175.2_Missense_Mutation_p.V465M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M	p.V510M	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1653	-			465					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1528G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158322	0.57368	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69306	-0.39;-0.32;-0.37;-0.39;-0.35	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.67154	0.2863	L	0.61218	1.895	0.22317	N	0.999205	D;D;D	0.65815	0.995;0.968;0.987	P;B;B	0.52627	0.704;0.401;0.416	T	0.59359	-0.7469	10	0.72032	D	0.01	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	M	427;450;510;472;465	ENSP00000275838:V427M;ENSP00000367098:V450M;ENSP00000401369:V510M;ENSP00000398247:V472M;ENSP00000391137:V465M	ENSP00000275838:V427M	V	-	1	0	ASB10	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG		0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		42	190	0	0	0	1	0	42	190					T	150873210	C	T	150873210	3	4	79	1	0	0	0	0	1	0	0	0	1015	536	19	1	14	1	ASB10	7	150873210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9016	150873210	8265453	9076	19393											
ASB10	136371	broad.mit.edu	37	chr7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcttcttcctcggacCgaccatccactctcgctcca	4	20	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000420175.2	-	3	653	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(763-765)cGg>cAg		ankyrin repeat and SOCS box containing 10							27	25	25					7																	150878501		2201	4291	6492	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878501C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.629G>A	7.37:g.150878501C>T	ENSP00000391137:p.Arg210Gln					ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000420175.2_Missense_Mutation_p.R210Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q	p.R255Q	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	889	-			210					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.764G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338483	0.41398	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.14	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.350110	0.30602	N	0.009273	T	0.46073	0.1374	N	0.13327	0.33	0.31035	N	0.716972	P;D;D	0.89917	0.865;1.0;1.0	B;D;D	0.72625	0.391;0.974;0.978	T	0.46735	-0.9170	10	0.25751	T	0.34	-12.42	10.0366	0.42133	0.0:0.7716:0.0:0.2284	.	195;210;255	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	Q	210;195;255;255;210	ENSP00000275838:R210Q;ENSP00000367098:R195Q;ENSP00000401369:R255Q;ENSP00000398247:R255Q;ENSP00000391137:R210Q	ENSP00000275838:R210Q	R	-	2	0	ASB10	150509434	0.011000	0.17503	0.996000	0.52242	0.680000	0.39746	0.308000	0.19314	0.673000	0.31224	-0.140000	0.14226	CGG		0.637	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		42	177	0	0	0	1	0	42	177					T	150878501	C	T	150878501	3	4	79	1	0	0	0	0	1	0	0	0	1015	652	23	1	786	1	ASB10	7	150878501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5291	150878501	8260162	9077	19394											
ASB10	136371	broad.mit.edu	37	chr7	150884173	150884173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtctgtcatcgaggggCtctccctgccccttgcactc	12	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	ENST00000420175.2	-	1	69	c.45G>A	c.(43-45)gaG>gaA	p.E15E	ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000422024.1_Silent_p.E60E			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGAGGGGCTCTCCCTGCC	0.617																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(178-180)gaG>gaA		ankyrin repeat and SOCS box containing 10							31	25	27					7																	150884173		2202	4298	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150884173C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.45G>A	7.37:g.150884173C>T						ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000420175.2_Silent_p.E15E|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000377867.3_Intron	p.E60E	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	305	-			15					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.180G>A	CCDS47750.2																																																																																				0.617	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		13	59	0	0	0	1	0	13	59					T	150884173	C	T	150884173	2	4	79	1	0	0	0	0	0	0	0	1	1015	796	28	2		2	ASB10	7	150884173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	150884173	8254490	9078	19395											
CHPF2	54480	broad.mit.edu	37	chr7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgaggctgtaggggagCgaggagggccacagaatcca	18	8	0	1	rs200404526		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000035307.2	+	1	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17792	0.0		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(145-147)Cga>Tga		chondroitin polymerizing factor 2							74	77	76					7																	150931242		2203	4300	6503	SO:0001587	stop_gained	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150931242C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.145C>T	7.37:g.150931242C>T	ENSP00000035307:p.Arg49*					CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	p.R49*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			1	1658	+			49					B2DBD8|Q6P2I4|Q6UXD2	Nonsense_Mutation	SNP	ENST00000035307.2	37	c.145C>T	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.173336	0.94807	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.25	4.36	0.52297	.	0.719501	0.13914	N	0.354060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.3935	12.9403	0.58340	0.0:0.837:0.163:0.0	.	.	.	.	X	41;49;49	.	ENSP00000035307:R49X	R	+	1	2	CHPF2	150562175	0.758000	0.28405	0.936000	0.37596	0.359000	0.29487	3.251000	0.51453	1.200000	0.43188	0.462000	0.41574	CGA		0.592	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		31	393	0	0	0	1	0	31	393					T	150931242	C	T	150931242	4	4	79	1	0	0	0	0	0	1	0	0	3378	760	27	1	147	1	CHPF2	7	150931242	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47069	150931242	8207421	9079	19396											
CHPF2	54480	broad.mit.edu	37	chr7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaccggcaggcttctgCggagggctgcttctacaacg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000035307.2	+	4	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	670					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(2008-2010)gCg>gTg		chondroitin polymerizing factor 2							14	16	15					7																	150935457		2194	4293	6487	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935457C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2009C>T	7.37:g.150935457C>T	ENSP00000035307:p.Ala670Val					CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V	p.A670V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3522	+			670					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.2009C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702049	0.48307	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.16196	2.36;2.36	4.81	3.93	0.45458	.	0.235349	0.42964	D	0.000628	T	0.10208	0.0250	N	0.14661	0.345	0.36327	D	0.858613	P;B	0.48834	0.916;0.0	B;B	0.38755	0.281;0.001	T	0.19418	-1.0306	10	0.72032	D	0.01	-7.7357	12.433	0.55584	0.0:0.9194:0.0:0.0806	.	670;662	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	662;670	ENSP00000418914:A662V;ENSP00000035307:A670V	ENSP00000035307:A670V	A	+	2	0	CHPF2	150566390	1.000000	0.71417	0.299000	0.25016	0.957000	0.61999	4.766000	0.62279	1.246000	0.43901	0.655000	0.94253	GCG		0.711	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		20	91	0	0	0	1	0	20	91					T	150935457	C	T	150935457	3	4	79	1	0	0	0	0	1	0	0	0	3378	768	27	1	2023	1	CHPF2	7	150935457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4215	150935457	8203206	9080	19397											
SMARCD3	6604	broad.mit.edu	37	chr7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccagctcctgcctgcGctgctggatctttagaggaa	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000262188.8	-	13	1818	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|MIR671_ENST00000390183.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	470					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1369-1371)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							111	109	109					7																	150936233		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936233G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1408C>T	7.37:g.150936233G>A	ENSP00000262188:p.Arg470Cys					SMARCD3_ENST00000262188.8_Missense_Mutation_p.R470C|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C	p.R457C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1843	-			470					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.1369C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726761	0.48833	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.50548	0.74;0.77;0.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.556;0.987	T	0.75230	-0.3391	10	0.87932	D	0	-9.877	15.7995	0.78443	0.0:0.0:1.0:0.0	.	457;470	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	470;457;457;422	ENSP00000262188:R470C;ENSP00000376558:R457C;ENSP00000349254:R457C	ENSP00000262188:R470C	R	-	1	0	SMARCD3	150567166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.401000	0.81631	0.655000	0.94253	CGC		0.572	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		112	510	0	0	0	1	0	112	510					A	150936233	G	A	150936233	3	1	79	1	0	0	0	0	1	0	0	0	14829	1087	38	1	47	1	SMARCD3	7	150936233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	150936233	8202430	9081	19398											
WDR86	349136	broad.mit.edu	37	chr7	151079024	151079024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcagctctccagactgCgcgtcgaaggcccgggcgca	13	17	1	1	rs370137886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	ENST00000334493.6	-	5	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	WDR86_ENST00000463000.1_Intron|WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000469830.2_Missense_Mutation_p.A324T	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	302										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACTGCGCGTCGAAGG	0.706																																						ENST00000469830.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(970-972)Gca>Aca		WD repeat domain 86		C		0,4404		0,0,2202	26	25	25		906	0.1	1	7		25	1,8595		0,1,4297	no	coding-synonymous	WDR86	NM_198285.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		302/377	151079024	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	349136							g.chr7:151079024C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"WD repeat domain containing"	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.906G>A	7.37:g.151079024C>T						WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000334493.6_Silent_p.A302A|WDR86_ENST00000463000.1_Intron	p.A324T			Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1011	-			338					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.970G>A	CCDS5925.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.49|19.49	3.837177|3.837177	0.71373|0.71373	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187260|ENSG00000187260	ENST00000469830|ENST00000477459	T|T	0.61392|0.58506	0.11|0.33	4.47|4.47	0.139|0.139	0.14798|0.14798	.|.	.|0.469068	.|0.13213	.|N	.|0.405041	T|T	0.30135|0.30135	0.0755|0.0755	.|.	.|.	.|.	0.20307|0.20307	N|N	0.999919|0.999919	B|B	0.30211|0.22909	0.273|0.077	B|B	0.15052|0.09377	0.012|0.004	T|T	0.09357|0.09357	-1.0678|-1.0678	8|9	0.08837|0.20046	T|T	0.75|0.44	-12.6375|-12.6375	1.6353|1.6353	0.02740|0.02740	0.1945:0.3125:0.3458:0.1472|0.1945:0.3125:0.3458:0.1472	.|.	324|129	B4DJF1|C9JAJ5	.|.	T|H	324|129	ENSP00000419162:A324T|ENSP00000417512:R129H	ENSP00000419162:A324T|ENSP00000417512:R129H	A|R	-|-	1|2	0|0	WDR86|WDR86	150709957|150709957	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	0.142000|0.142000	0.16096|0.16096	0.325000|0.325000	0.23359|0.23359	0.313000|0.313000	0.20887|0.20887	GCA|CGC		0.706	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		17	91	0	0	0	1	0	17	91					T	151079024	C	T	151079024	2	4	79	1	0	0	0	0	0	0	0	1	17388	755	27	1		1	WDR86	7	151079024	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142791	151079024	8059639	9082	19399											
WDR86	349136	broad.mit.edu	37	chr7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatggtgcagtcggcgCtgcatgtgaaggcagcctca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000334493.6	-	2	651	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(220-222)aGc>aTc		WD repeat domain 86							40	43	42					7																	151097270		2178	4268	6446	SO:0001583	missense	349136							g.chr7:151097270C>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"WD repeat domain containing"	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.221G>T	7.37:g.151097270C>A	ENSP00000335522:p.Ser74Ile					WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	p.S74I	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	651	-			74					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.221G>T	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262929	0.80358	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.74526	-0.85;-0.85	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.90940	0.7152	H	0.96943	3.91	0.39221	D	0.963495	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.981	D	0.94693	0.7876	9	0.87932	D	0	-20.8032	16.8851	0.86074	0.0:1.0:0.0:0.0	.	74;74;32	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	74	ENSP00000335522:S74I;ENSP00000419162:S74I	ENSP00000335522:S74I	S	-	2	0	WDR86	150728203	0.998000	0.40836	0.993000	0.49108	0.941000	0.58515	4.153000	0.58118	2.311000	0.77944	0.585000	0.79938	AGC		0.607	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		11	111	1	0	0.00829132	1	0.00834067	11	111					A	151097270	C	A	151097270	3	1	79	1	0	0	0	0	1	0	0	0	17388	797	28	3	929	3	WDR86	7	151097270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18246	151097270	8041393	9083	19400											
PRKAG2	51422	broad.mit.edu	37	chr7	151372653	151372653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcaggctcgtgcttataGgattccaggggaaacgtgtg	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151372653G>A	ENST00000287878.4	-	4	1041	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000392801.2_Silent_p.S135S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	179					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CGTGCTTATAGGATTCCAGGG	0.587																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(535-537)tcC>tcT		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							146	123	131					7																	151372653		2203	4300	6503	SO:0001819	synonymous_variant	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151372653G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.537C>T	7.37:g.151372653G>A						PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000392801.2_Silent_p.S135S	p.S179S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	4	1041	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	179					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.537C>T	CCDS5928.1																																																																																				0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		10	534	0	0	0	1	0	10	534					A	151372653	G	A	151372653	2	1	79	1	0	0	0	0	0	0	0	1	12548	987	35	2		2	PRKAG2	7	151372653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275383	151372653	7766010	9084	19401											
GALNTL5	168391	broad.mit.edu	37	chr7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttaaccatacaaacccaGaacttcataaagaactttta	2	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	92					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TACAAACCCAGAACTTCATAA	0.338																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(274-276)Gaa>Taa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							64	67	66					7																	151668056		2203	4297	6500	SO:0001587	stop_gained	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151668056G>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.274G>T	7.37:g.151668056G>T	ENSP00000376548:p.Glu92*					GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	3	528	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	92					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Nonsense_Mutation	SNP	ENST00000392800.2	37	c.274G>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144923	0.94603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	.	.	.	4.94	3.14	0.36123	.	1.405840	0.04436	N	0.370099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.6325	0.28247	0.1907:0.0:0.8093:0.0	.	.	.	.	X	92	.	ENSP00000376548:E92X	E	+	1	0	GALNTL5	151298989	0.757000	0.28394	0.028000	0.17463	0.023000	0.10783	1.917000	0.39996	0.788000	0.33755	-0.140000	0.14226	GAA		0.338	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		34	205	1	0	6.00712e-18	1	6.65163e-18	34	205					T	151668056	G	T	151668056	4	4	79	1	0	0	0	0	0	1	0	0	6252	943	33	3	280	3	GALNTL5	7	151668056	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295403	151668056	7470607	9085	19402											
MLL3	58508	broad.mit.edu	37	chr7	151842259	151842259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacacaaacctcttgacaTgggcactcattttaggttca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842259T>C	ENST00000262189.6	-	54	14371	c.14153A>G	c.(14152-14154)cAt>cGt	p.H4718R	KMT2C_ENST00000355193.2_Missense_Mutation_p.H4775R|KMT2C_ENST00000485655.2_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4718					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTCTTGACATGGGCACTCAT	0.443																																						ENST00000355193.2																			0											c.(14323-14325)cAt>cGt		lysine (K)-specific methyltransferase 2C							92	84	87					7																	151842259		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151842259T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14153A>G	7.37:g.151842259T>C	ENSP00000262189:p.His4718Arg					KMT2C_ENST00000262189.6_Missense_Mutation_p.H4718R	p.H4775R							55	14542	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14324A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189627	0.57909	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88741	-1.76;-1.74;-2.42	5.34	5.34	0.76211	.	0.000000	0.46145	U	0.000304	D	0.90366	0.6985	L	0.38838	1.175	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	P;P;P	0.62184	0.852;0.899;0.899	D	0.89704	0.3907	10	0.36615	T	0.2	.	15.6055	0.76668	0.0:0.0:0.0:1.0	.	4718;3836;4775	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	R	4718;4775;1335	ENSP00000262189:H4718R;ENSP00000347325:H4775R;ENSP00000410411:H1335R	ENSP00000262189:H4718R	H	-	2	0	MLL3	151473192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.257000	0.72480	2.152000	0.67230	0.533000	0.62120	CAT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			74	312	0	0	0	1	0	74	312					C	151842259	T	C	151842259	3	2	79	1	0	0	0	0	1	0	0	0	9663	1464	51	4	606	4	MLL3	7	151842259	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174203	151842259	7296404	9086	19403											
MLL3	58508	broad.mit.edu	37	chr7	151842307	151842307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctgtggggttaacgGcaagaggaagttccatgaga	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842307G>A	ENST00000262189.6	-	54	14323	c.14105C>T	c.(14104-14106)gCc>gTc	p.A4702V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4759V|KMT2C_ENST00000485655.2_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4702					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGGTTAACGGCAAGAGGAAG	0.448																																						ENST00000355193.2																			0											c.(14275-14277)gCc>gTc		lysine (K)-specific methyltransferase 2C							97	86	90					7																	151842307		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151842307G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14105C>T	7.37:g.151842307G>A	ENSP00000262189:p.Ala4702Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A4702V	p.A4759V							55	14494	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14276C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876461	0.72180	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89746	-1.9;-1.89;-2.56	5.23	5.23	0.72850	.	0.000000	0.44285	U	0.000465	D	0.92701	0.7680	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.80764	0.994;0.893;0.893	D	0.90036	0.4138	10	0.22109	T	0.4	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	4702;3820;4759	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4702;4759;1319	ENSP00000262189:A4702V;ENSP00000347325:A4759V;ENSP00000410411:A1319V	ENSP00000262189:A4702V	A	-	2	0	MLL3	151473240	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.497000	0.66924	2.607000	0.88179	0.655000	0.94253	GCC		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			79	306	0	0	0	1	0	79	306					A	151842307	G	A	151842307	3	1	79	1	0	0	0	0	1	0	0	0	9663	1203	42	2	654	2	MLL3	7	151842307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	151842307	7296356	9087	19404											
MLL3	58508	broad.mit.edu	37	chr7	151846148	151846148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggggagacagtgcacAtccaaagtggagatgttgtt	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151846148A>C	ENST00000262189.6	-	52	13082	c.12864T>G	c.(12862-12864)gaT>gaG	p.D4288E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4345E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4288					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACAGTGCACATCCAAAGTGG	0.527																																						ENST00000355193.2																			0											c.(13033-13035)gaT>gaG		lysine (K)-specific methyltransferase 2C							67	61	63					7																	151846148		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151846148A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12864T>G	7.37:g.151846148A>C	ENSP00000262189:p.Asp4288Glu					KMT2C_ENST00000262189.6_Missense_Mutation_p.D4288E	p.D4345E							53	13253	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13035T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.46|16.46	3.130325|3.130325	0.56721|0.56721	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.89343	.|-1.94;-1.88;-2.5	5.52|5.52	-3.83|-3.83	0.04269|0.04269	.|.	.|0.000000	.|0.45867	.|U	.|0.000334	D|D	0.91102|0.91102	0.7199|0.7199	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.83275	.|0.952;0.996;0.996	D|D	0.87909|0.87909	0.2696|0.2696	5|10	.|0.30078	.|T	.|0.28	.|.	13.848|13.848	0.63479|0.63479	0.6:0.0:0.4:0.0|0.6:0.0:0.4:0.0	.|.	.|4288;3406;4345	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|E	1849|4288;4345;905	.|ENSP00000262189:D4288E;ENSP00000347325:D4345E;ENSP00000410411:D905E	.|ENSP00000262189:D4288E	C|D	-|-	1|3	0|2	MLL3|MLL3	151477081|151477081	0.395000|0.395000	0.25254|0.25254	0.711000|0.711000	0.30485|0.30485	0.993000|0.993000	0.82548|0.82548	-0.105000|-0.105000	0.10907|0.10907	-0.731000|-0.731000	0.04862|0.04862	0.528000|0.528000	0.53228|0.53228	TGT|GAT		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			16	186	0	0	0	1	0	16	186					C	151846148	A	C	151846148	3	2	79	1	0	0	0	0	1	0	0	0	9663	214	8	4	1903	4	MLL3	7	151846148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3841	151846148	7292515	9088	19405											
MLL3	58508	broad.mit.edu	37	chr7	151859602	151859602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgcttgtgagaaatcaCtattgggcagtttgttctct	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151859602C>T	ENST00000262189.6	-	43	11278	c.11060G>A	c.(11059-11061)aGt>aAt	p.S3687N	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3687N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3687					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAATCACTATTGGGCAG	0.468																																						ENST00000355193.2																			0											c.(11059-11061)aGt>aAt		lysine (K)-specific methyltransferase 2C							212	213	212					7																	151859602		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151859602C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11060G>A	7.37:g.151859602C>T	ENSP00000262189:p.Ser3687Asn					KMT2C_ENST00000262189.6_Missense_Mutation_p.S3687N	p.S3687N							43	11278	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11060G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370395	0.24771	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89343	-1.79;-1.83;-2.5	5.51	0.49	0.16861	.	0.658638	0.13152	U	0.409831	D	0.83381	0.5242	L	0.47716	1.5	0.09310	N	1	B;B;B	0.28128	0.201;0.006;0.001	B;B;B	0.27608	0.081;0.003;0.002	T	0.69866	-0.5029	10	0.40728	T	0.16	.	9.4648	0.38806	0.0:0.4076:0.4637:0.1287	.	3687;2748;3687	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	N	3687;3687;273	ENSP00000262189:S3687N;ENSP00000347325:S3687N;ENSP00000410411:S273N	ENSP00000262189:S3687N	S	-	2	0	MLL3	151490535	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.472000	0.22116	-0.195000	0.10382	0.650000	0.86243	AGT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			203	1050	0	0	0	1	0	203	1050					T	151859602	C	T	151859602	3	4	79	1	0	0	0	0	1	0	0	0	9663	565	20	2	3743	2	MLL3	7	151859602	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13454	151859602	7279061	9089	19406											
MLL3	58508	broad.mit.edu	37	chr7	151878240	151878240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggtcttgtcattgaggaCctagtaaaaccctctgaaat	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878240C>A	ENST00000262189.6	-	36	6923	c.6705G>T	c.(6703-6705)agG>agT	p.R2235S	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2235S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2235	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCATTGAGGACCTAGTAAAAC	0.512																																						ENST00000355193.2																			0											c.(6703-6705)agG>agT		lysine (K)-specific methyltransferase 2C							95	96	96					7																	151878240		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878240C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6705G>T	7.37:g.151878240C>A	ENSP00000262189:p.Arg2235Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.R2235S	p.R2235S							36	6923	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6705G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853363	0.32791	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84146	-1.81;-1.81	5.37	3.45	0.39498	.	0.000000	0.47852	D	0.000201	T	0.76485	0.3994	L	0.57536	1.79	0.80722	D	1	P;B	0.35507	0.506;0.42	B;B	0.25506	0.051;0.061	T	0.71394	-0.4606	10	0.21540	T	0.41	.	8.4718	0.32991	0.0:0.7012:0.0:0.2988	.	2235;1296	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2235	ENSP00000262189:R2235S;ENSP00000347325:R2235S	ENSP00000262189:R2235S	R	-	3	2	MLL3	151509173	0.000000	0.05858	0.562000	0.28370	0.977000	0.68977	-0.232000	0.09055	1.319000	0.45190	0.655000	0.94253	AGG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			23	329	1	0	4.26978e-12	1	4.57227e-12	23	329					A	151878240	C	A	151878240	3	1	79	1	0	0	0	0	1	0	0	0	9663	506	18	3	8126	3	MLL3	7	151878240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18638	151878240	7260423	9090	19407											
MLL3	58508	broad.mit.edu	37	chr7	151878356	151878356	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatggatcagaatgcctctGatttgttacaggtgtaacaa	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878356G>A	ENST00000262189.6	-	36	6807	c.6589C>T	c.(6589-6591)Cag>Tag	p.Q2197*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2197*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2197	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q2197*(1)									GAATGCCTCTGATTTGTTACA	0.488																																						ENST00000355193.2																			1	Substitution - Nonsense(1)	p.Q2197*(1)	central_nervous_system(1)								c.(6589-6591)Cag>Tag		lysine (K)-specific methyltransferase 2C							101	94	97					7																	151878356		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151878356G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6589C>T	7.37:g.151878356G>A	ENSP00000262189:p.Gln2197*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2197*	p.Q2197*							36	6807	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.6589C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.240273	0.99729	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.165964	0.28109	N	0.016568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2197	.	ENSP00000262189:Q2197X	Q	-	1	0	MLL3	151509289	1.000000	0.71417	0.701000	0.30321	0.278000	0.26855	5.413000	0.66399	2.677000	0.91161	0.655000	0.94253	CAG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	280	0	0	0	1	0	9	280					A	151878356	G	A	151878356	4	1	79	1	0	0	0	0	0	1	0	0	9663	1299	45	2	8242	2	MLL3	7	151878356	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	151878356	7260307	9091	19408											
MLL3	58508	broad.mit.edu	37	chr7	151878579	151878579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagatgttggccttgaTatggttccaggctgggaaaa	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878579T>C	ENST00000262189.6	-	36	6584	c.6366A>G	c.(6364-6366)atA>atG	p.I2122M	KMT2C_ENST00000355193.2_Missense_Mutation_p.I2122M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2122	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGCCTTGATATGGTTCCAG	0.483																																						ENST00000355193.2																			0											c.(6364-6366)atA>atG		lysine (K)-specific methyltransferase 2C							109	112	111					7																	151878579		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878579T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6366A>G	7.37:g.151878579T>C	ENSP00000262189:p.Ile2122Met					KMT2C_ENST00000262189.6_Missense_Mutation_p.I2122M	p.I2122M							36	6584	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6366A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.288	0.610557	0.14066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.66;-1.67	5.38	0.13	0.14746	.	0.283649	0.24771	N	0.035737	T	0.64505	0.2604	N	0.25144	0.715	0.19300	N	0.999974	B;B	0.23316	0.083;0.032	B;B	0.14023	0.01;0.008	T	0.48536	-0.9027	10	0.30854	T	0.27	.	3.8341	0.08886	0.3223:0.2846:0.0:0.393	.	2122;1183	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	M	2122	ENSP00000262189:I2122M;ENSP00000347325:I2122M	ENSP00000262189:I2122M	I	-	3	3	MLL3	151509512	0.292000	0.24362	0.896000	0.35187	0.990000	0.78478	-0.692000	0.05127	0.038000	0.15604	0.460000	0.39030	ATA		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			61	308	0	0	0	1	0	61	308					C	151878579	T	C	151878579	3	2	79	1	0	0	0	0	1	0	0	0	9663	1396	49	4	8465	4	MLL3	7	151878579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223	151878579	7260084	9092	19409											
MLL3	58508	broad.mit.edu	37	chr7	151878668	151878668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggggaggctgactatatgGatcatttgactgattatgag	13	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878668G>T	ENST00000262189.6	-	36	6495	c.6277C>A	c.(6277-6279)Cca>Aca	p.P2093T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2093T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2093	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGACTATATGGATCATTTGAC	0.453																																						ENST00000355193.2																			0											c.(6277-6279)Cca>Aca		lysine (K)-specific methyltransferase 2C							84	84	84					7																	151878668		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878668G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6277C>A	7.37:g.151878668G>T	ENSP00000262189:p.Pro2093Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P2093T	p.P2093T							36	6495	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6277C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111237	0.37242	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.44688	D	0.000429	T	0.72755	0.3500	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.961;0.998	P;D	0.66351	0.617;0.943	T	0.73145	-0.4075	10	0.51188	T	0.08	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	2093;1154	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2093	ENSP00000262189:P2093T;ENSP00000347325:P2093T	ENSP00000262189:P2093T	P	-	1	0	MLL3	151509601	1.000000	0.71417	0.594000	0.28785	0.643000	0.38383	3.899000	0.56288	2.648000	0.89879	0.563000	0.77884	CCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			58	230	1	0	2.48254e-18	1	2.75398e-18	58	230					T	151878668	G	T	151878668	3	4	79	1	0	0	0	0	1	0	0	0	9663	1174	41	3	8554	3	MLL3	7	151878668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	151878668	7259995	9093	19410											
MLL3	58508	broad.mit.edu	37	chr7	151879109	151879109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaatctctgacaggggatgGcctatttgctgttgtctcat	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151879109G>T	ENST00000262189.6	-	36	6054	c.5836C>A	c.(5836-5838)Cca>Aca	p.P1946T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1946T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1946	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGGGGATGGCCTATTTGCT	0.433																																						ENST00000355193.2																			0											c.(5836-5838)Cca>Aca		lysine (K)-specific methyltransferase 2C							124	129	127					7																	151879109		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151879109G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5836C>A	7.37:g.151879109G>T	ENSP00000262189:p.Pro1946Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1946T	p.P1946T							36	6054	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5836C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556898	0.27827	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.60040	0.22;0.22	5.09	5.09	0.68999	.	0.000000	0.44688	D	0.000428	T	0.69314	0.3097	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.796;0.999	T	0.72693	-0.4216	10	0.72032	D	0.01	.	18.5052	0.90894	0.0:0.0:1.0:0.0	.	1946;1007	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	1946	ENSP00000262189:P1946T;ENSP00000347325:P1946T	ENSP00000262189:P1946T	P	-	1	0	MLL3	151510042	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	7.816000	0.86201	2.366000	0.80165	0.563000	0.77884	CCA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			137	626	1	0	6.85551e-66	1	8.67079e-66	137	626					T	151879109	G	T	151879109	3	4	79	1	0	0	0	0	1	0	0	0	9663	1203	42	3	8995	3	MLL3	7	151879109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	151879109	7259554	9094	19411											
MLL3	58508	broad.mit.edu	37	chr7	151884809	151884809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttgtacctggcatcaGgataagaggattgtgcaatt	12	6	1	1	rs149660967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884809G>A	ENST00000262189.6	-	32	5002	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1595L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1595					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGGCATCAGGATAAGAGGA	0.373																																						ENST00000355193.2																			0											c.(4783-4785)cCt>cTt		lysine (K)-specific methyltransferase 2C							99	96	97					7																	151884809		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151884809G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4784C>T	7.37:g.151884809G>A	ENSP00000262189:p.Pro1595Leu					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1595L	p.P1595L							32	5002	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4784C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706173	0.30232	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.81908	-1.55;-1.55	5.71	4.83	0.62350	.	0.308380	0.22396	U	0.060603	T	0.70500	0.3231	N	0.11927	0.2	0.54753	D	0.999988	B;B	0.17038	0.02;0.011	B;B	0.17722	0.016;0.019	T	0.64076	-0.6492	10	0.18276	T	0.48	.	17.0864	0.86612	0.0:0.127:0.873:0.0	.	1595;656	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	1595	ENSP00000262189:P1595L;ENSP00000347325:P1595L	ENSP00000262189:P1595L	P	-	2	0	MLL3	151515742	0.987000	0.35691	0.290000	0.24890	0.993000	0.82548	3.950000	0.56676	1.533000	0.49186	0.643000	0.83706	CCT		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			84	432	0	0	0	1	0	84	432					A	151884809	G	A	151884809	3	1	79	1	0	0	0	0	1	0	0	0	9663	1000	35	2	10063	2	MLL3	7	151884809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5700	151884809	7253854	9095	19412											
MLL3	58508	broad.mit.edu	37	chr7	151884856	151884856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttcccagtccgcttccAggtggcaaagaattatgtgg	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884856A>G	ENST00000262189.6	-	32	4955	c.4737T>C	c.(4735-4737)ccT>ccC	p.P1579P	KMT2C_ENST00000355193.2_Silent_p.P1579P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1579					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTCCGCTTCCAGGTGGCAAAG	0.413																																						ENST00000355193.2																			0											c.(4735-4737)ccT>ccC		lysine (K)-specific methyltransferase 2C							109	104	106					7																	151884856		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151884856A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4737T>C	7.37:g.151884856A>G						KMT2C_ENST00000262189.6_Silent_p.P1579P	p.P1579P							32	4955	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.4737T>C	CCDS5931.1																																																																																				0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			82	435	0	0	0	1	0	82	435					G	151884856	A	G	151884856	2	3	79	1	0	0	0	0	0	0	0	1	9663	175	7	4		4	MLL3	7	151884856	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	151884856	7253807	9096	19413											
MLL3	58508	broad.mit.edu	37	chr7	151891109	151891109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccctgattgtgtattgGcaacagctgtgttggtgggg	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151891109G>A	ENST00000262189.6	-	31	4863	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1549S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1549					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTGTATTGGCAACAGCTGT	0.413																																						ENST00000355193.2																			0											c.(4645-4647)Cca>Tca		lysine (K)-specific methyltransferase 2C							132	119	123					7																	151891109		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151891109G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4645C>T	7.37:g.151891109G>A	ENSP00000262189:p.Pro1549Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1549S	p.P1549S							31	4863	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4645C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059299	0.19987	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.45276	0.9;0.9	5.42	3.6	0.41247	.	0.150792	0.30565	N	0.009353	T	0.26702	0.0653	L	0.40543	1.245	0.31239	N	0.695425	B;B	0.33637	0.013;0.42	B;B	0.28465	0.003;0.09	T	0.21177	-1.0253	10	0.07030	T	0.85	.	10.5384	0.45018	0.2239:0.0:0.7761:0.0	.	1549;610	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1549	ENSP00000262189:P1549S;ENSP00000347325:P1549S	ENSP00000262189:P1549S	P	-	1	0	MLL3	151522042	0.938000	0.31826	0.641000	0.29422	0.888000	0.51559	0.589000	0.23939	1.268000	0.44264	0.650000	0.86243	CCA		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			87	393	0	0	0	1	0	87	393					A	151891109	G	A	151891109	3	1	79	1	0	0	0	0	1	0	0	0	9663	1203	42	2	10206	2	MLL3	7	151891109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6253	151891109	7247554	9097	19414											
MLL3	58508	broad.mit.edu	37	chr7	151932919	151932919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccccaggtaatacaacagCtccgattccacttttcagct	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151932919C>A	ENST00000262189.6	-	16	2970	c.2752G>T	c.(2752-2754)Gct>Tct	p.A918S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A918S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	918					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATACAACAGCTCCGATTCCA	0.473																																						ENST00000355193.2																			0											c.(2752-2754)Gct>Tct		lysine (K)-specific methyltransferase 2C							77	70	72					7																	151932919		2202	4284	6486	SO:0001583	missense	58508							g.chr7:151932919C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2752G>T	7.37:g.151932919C>A	ENSP00000262189:p.Ala918Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.A918S	p.A918S							16	2970	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2752G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415682|1.415682	0.25552|0.25552	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.83163|.	-1.69;-1.69|.	5.0|5.0	3.17|3.17	0.36434|0.36434	.|.	0.330195|.	0.21571|.	N|.	0.072402|.	T|T	0.25121|0.25121	0.0610|0.0610	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.21071|.	0.051|.	B|.	0.17433|.	0.018|.	T|T	0.04153|0.04153	-1.0973|-1.0973	10|5	0.14252|.	T|.	0.57|.	.|.	4.931|4.931	0.13917|0.13917	0.1555:0.6069:0.0:0.2376|0.1555:0.6069:0.0:0.2376	.|.	918|.	Q8NEZ4|.	MLL3_HUMAN|.	S|I	918|73	ENSP00000262189:A918S;ENSP00000347325:A918S|.	ENSP00000262189:A918S|.	A|S	-|-	1|2	0|0	MLL3|MLL3	151563852|151563852	0.969000|0.969000	0.33509|0.33509	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	0.224000|0.224000	0.17738|0.17738	1.241000|1.241000	0.43820|0.43820	0.585000|0.585000	0.79938|0.79938	GCT|AGC		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			37	1063	1	0	6.50621e-10	1	6.87419e-10	37	1063					A	151932919	C	A	151932919	3	1	79	1	0	0	0	0	1	0	0	0	9663	797	28	3	12159	3	MLL3	7	151932919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41810	151932919	7205744	9098	19415											
MLL3	58508	broad.mit.edu	37	chr7	151945554	151945554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtgatctggtgtgtaacGacttcaatgttttctgtcac	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151945554G>A	ENST00000262189.6	-	14	2183	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V	KMT2C_ENST00000355193.2_Silent_p.V655V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	655					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTGTGTAACGACTTCAATGT	0.393																																						ENST00000355193.2																			0											c.(1963-1965)gtC>gtT		lysine (K)-specific methyltransferase 2C							81	74	77					7																	151945554		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945554G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1965C>T	7.37:g.151945554G>A						KMT2C_ENST00000262189.6_Silent_p.V655V	p.V655V							14	2183	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1965C>T	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			53	267	0	0	0	1	0	53	267					A	151945554	G	A	151945554	2	1	79	1	0	0	0	0	0	0	0	1	9663	1045	37	1		1	MLL3	7	151945554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12635	151945554	7193109	9099	19416											
MLL3	58508	broad.mit.edu	37	chr7	151962253	151962253	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagaactgatctaagaggtCtcccgggctgtcgcacactg	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151962253C>A	ENST00000262189.6	-	8	1272	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D352Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	352					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTAAGAGGTCTCCCGGGCTG	0.398																																						ENST00000355193.2																			0											c.(1054-1056)Gac>Tac		lysine (K)-specific methyltransferase 2C							165	151	156					7																	151962253		2203	4296	6499	SO:0001583	missense	58508							g.chr7:151962253C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1054G>T	7.37:g.151962253C>A	ENSP00000262189:p.Asp352Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.D352Y	p.D352Y							8	1272	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1054G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045980	0.36085	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99005	-5.32;-5.32	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43579	U	0.000542	D	0.99348	0.9771	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98903	1.0777	10	0.72032	D	0.01	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	352	Q8NEZ4	MLL3_HUMAN	Y	352	ENSP00000262189:D352Y;ENSP00000347325:D352Y	ENSP00000262189:D352Y	D	-	1	0	MLL3	151593186	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GAC		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			20	1112	1	0	2.48551e-13	1	2.68178e-13	20	1112					A	151962253	C	A	151962253	3	1	79	1	0	0	0	0	1	0	0	0	9663	913	32	3	13889	3	MLL3	7	151962253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16699	151962253	7176410	9100	19417											
MLL3	58508	broad.mit.edu	37	chr7	151970792	151970792	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatccgtagtaaacttacatCtttcaggagcttggtcaatg	8	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151970792C>A	ENST00000262189.6	-	7	1228	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	KMT2C_ENST00000355193.2_Missense_Mutation_p.R337I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	337					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAACTTACATCTTTCAGGAGC	0.373																																						ENST00000355193.2																			0											c.(1009-1011)aGa>aTa		lysine (K)-specific methyltransferase 2C							238	217	224					7																	151970792		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970792C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1010G>T	7.37:g.151970792C>A	ENSP00000262189:p.Arg337Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.R337I	p.R337I							7	1228	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1010G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316261	0.40996	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98807	-5.15;-5.15	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45606	U	0.000354	D	0.97170	0.9075	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.53912	0.737	D	0.96209	0.9151	10	0.17832	T	0.49	.	18.1678	0.89734	0.0:1.0:0.0:0.0	.	337	Q8NEZ4	MLL3_HUMAN	I	337	ENSP00000262189:R337I;ENSP00000347325:R337I	ENSP00000262189:R337I	R	-	2	0	MLL3	151601725	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.685000	0.61693	2.375000	0.81037	0.585000	0.79938	AGA		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			34	1114	1	0	1.37878e-21	1	1.55502e-21	34	1114					A	151970792	C	A	151970792	3	1	79	1	0	0	0	0	1	0	0	0	9663	913	32	3	13937	3	MLL3	7	151970792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8539	151970792	7167871	9101	19418											
DPP6	1804	broad.mit.edu	37	chr7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcacggaggacctgcctCggagacgacaactctacagg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000377770.3	+	15	1669	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000404039.1_Missense_Mutation_p.R446W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	510					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGCCTCGGAGACGACA	0.557																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1336-1338)Cgg>Tgg		dipeptidyl-peptidase 6							77	84	82					7																	154596655		2058	4198	6256	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154596655C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1528C>T	7.37:g.154596655C>T	ENSP00000367001:p.Arg510Trp					DPP6_ENST00000377770.3_Missense_Mutation_p.R510W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W	p.R446W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		15	1923	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	510						Missense_Mutation	SNP	ENST00000377770.3	37	c.1336C>T		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101985	0.56183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	1.69	0.24217	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243875	0.48286	D	0.000193	T	0.50188	0.1601	M	0.73962	2.25	0.37883	D	0.930458	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;P;P;D	0.63192	0.832;0.901;0.861;0.912	T	0.58148	-0.7687	10	0.66056	D	0.02	-12.2056	13.0161	0.58757	0.331:0.669:0.0:0.0	.	403;448;510;446	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	446;510;448;403	ENSP00000385578:R446W;ENSP00000367001:R510W;ENSP00000328226:R448W;ENSP00000397303:R403W	ENSP00000328226:R448W	R	+	1	2	DPP6	154227588	0.899000	0.30636	0.001000	0.08648	0.759000	0.43091	1.793000	0.38764	0.126000	0.18424	0.650000	0.86243	CGG		0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		8	33	0	0	0	1	0	8	33					T	154596655	C	T	154596655	3	4	79	1	0	0	0	0	1	0	0	0	4746	875	31	1	1702	1	DPP6	7	154596655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2625863	154596655	4542008	9102	19419											
PAXIP1	22976	broad.mit.edu	37	chr7	154767875	154767875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcttgttcctcatttTctacttcctcctcctcttcc	3	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	ENST00000404141.1	-	6	759	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	202					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ttcctcattttctacttcctc	0.438																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(604-606)gAa>gCa		PAX interacting (with transcription-activation domain) protein 1							127	115	119					7																	154767875		1986	4189	6175	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767875T>G	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.605A>C	7.37:g.154767875T>G	ENSP00000384048:p.Glu202Ala					PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR	p.E202A			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	759	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	202					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.605A>C	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107271	0.20714	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T	0.33865	1.39;1.39	5.22	2.88	0.33553	.	0.534254	0.16281	U	0.221350	T	0.26412	0.0645	L	0.50333	1.59	0.22342	N	0.999183	B;B;B;B	0.24823	0.022;0.112;0.063;0.022	B;B;B;B	0.23852	0.01;0.049;0.022;0.01	T	0.33879	-0.9851	10	0.05436	T	0.98	-5.5449	8.8637	0.35274	0.0:0.1534:0.0:0.8466	.	155;111;168;202	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	A	202;202;150;155;160	ENSP00000384048:E202A;ENSP00000380376:E202A	ENSP00000319149:E155A	E	-	2	0	PAXIP1	154398808	1.000000	0.71417	0.004000	0.12327	0.958000	0.62258	2.848000	0.48278	0.327000	0.23409	0.254000	0.18369	GAA		0.438	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		7	54	0	0	0	1	0	7	54					G	154767875	T	G	154767875	3	3	79	1	0	0	0	0	1	0	0	0	11529	1783	62	4	2668	4	PAXIP1	7	154767875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171220	154767875	4370788	9103	19420											
HTR5A	3361	broad.mit.edu	37	chr7	154863025	154863025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccatagccctggaccGctactggtccatcacgcgcc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863025G>A	ENST00000287907.2	+	1	992	c.416G>A	c.(415-417)cGc>cAc	p.R139H	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	139					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCCTGGACCGCTACTGGTCC	0.632																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(415-417)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							82	61	68					7																	154863025		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863025G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.416G>A	7.37:g.154863025G>A	ENSP00000287907:p.Arg139His					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.R139H	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	992	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	139					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.416G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335525	0.95758	.	.	ENSG00000157219	ENST00000287907	D	0.97161	-4.27	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98600	1.0658	10	0.87932	D	0	.	17.9677	0.89105	0.0:0.0:1.0:0.0	.	139	P47898	5HT5A_HUMAN	H	139	ENSP00000287907:R139H	ENSP00000287907:R139H	R	+	2	0	HTR5A	154493958	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.222000	0.95196	2.465000	0.83290	0.655000	0.94253	CGC		0.632	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		52	191	0	0	0	1	0	52	191					A	154863025	G	A	154863025	3	1	79	1	0	0	0	0	1	0	0	0	7480	1087	38	1	418	1	HTR5A	7	154863025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95150	154863025	4275638	9104	19421											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	9	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863096G>A	ENST00000287907.2	+	1	1063	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGTCATGATCGCGCTCACCTG	0.627																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(487-489)Gcg>Acg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							102	74	84					7																	154863096		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863096G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.487G>A	7.37:g.154863096G>A	ENSP00000287907:p.Ala163Thr					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.A163T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1063	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.487G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.284	0.420448	0.11928	.	.	ENSG00000157219	ENST00000287907	T	0.39997	1.05	4.75	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.29061	0.0722	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.30031	-0.9992	10	0.21540	T	0.41	.	7.9454	0.29982	0.2722:0.3975:0.3303:0.0	.	163	P47898	5HT5A_HUMAN	T	163	ENSP00000287907:A163T	ENSP00000287907:A163T	A	+	1	0	HTR5A	154494029	0.004000	0.15560	0.002000	0.10522	0.334000	0.28698	1.467000	0.35321	-0.612000	0.05701	-0.176000	0.13171	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		22	273	0	0	0	1	0	22	273					A	154863096	G	A	154863096	3	1	79	1	0	0	0	0	1	0	0	0	7480	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	154863096	4275567	9105	19422											
HTR5A	3361	broad.mit.edu	37	chr7	154863212	154863212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcgagccttcctacgcCgtgttctccaccgtaggcgc	11	17	1	0	rs367906443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863212C>T	ENST00000287907.2	+	1	1179	c.603C>T	c.(601-603)gcC>gcT	p.A201A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTTCCTACGCCGTGTTCTCCA	0.612																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(601-603)gcC>gcT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		C		1,4405	2.1+/-5.4	0,1,2202	85	71	76		603	0.6	1	7		76	0,8600		0,0,4300	no	coding-synonymous	HTR5A	NM_024012.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/358	154863212	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863212C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.603C>T	7.37:g.154863212C>T						AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.A201A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1179	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	201					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.603C>T	CCDS5936.1																																																																																				0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		32	175	0	0	0	1	0	32	175					T	154863212	C	T	154863212	2	4	79	1	0	0	0	0	0	0	0	1	7480	639	23	1		1	HTR5A	7	154863212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	154863212	4275451	9106	19423											
HTR5A	3361	broad.mit.edu	37	chr7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttcgtgtactggaagAtctacaaggctgccaagttc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	223					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTACTGGAAGATCTACAAGGC	0.567																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(667-669)Atc>Ttc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							80	75	77					7																	154863276		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863276A>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.667A>T	7.37:g.154863276A>T	ENSP00000287907:p.Ile223Phe						p.I223F	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1243	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	223					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.667A>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270334	0.80469	.	.	ENSG00000157219	ENST00000287907	T	0.57436	0.4	4.76	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.048431	0.85682	D	0.000000	T	0.79375	0.4435	H	0.97564	4.03	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83349	-0.0004	10	0.87932	D	0	.	10.1703	0.42906	0.9222:0.0:0.0778:0.0	.	223	P47898	5HT5A_HUMAN	F	223	ENSP00000287907:I223F	ENSP00000287907:I223F	I	+	1	0	HTR5A	154494209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.800000	0.69108	0.874000	0.35823	0.528000	0.53228	ATC		0.567	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		32	205	0	0	0	1	0	32	205					T	154863276	A	T	154863276	3	4	79	1	0	0	0	0	1	0	0	0	7480	333	12	5	669	5	HTR5A	7	154863276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	154863276	4275387	9107	19424											
INSIG1	3638	broad.mit.edu	37	chr7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgggccagtgtcatgcGctgcatagcagtttttgttg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000340368.4	+	3	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	166					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(496-498)cGc>cTc		insulin induced gene 1							200	175	184					7																	155093360		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155093360G>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.497G>T	7.37:g.155093360G>T	ENSP00000344741:p.Arg166Leu					INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	p.R166L	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	708	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	166					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.497G>T	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646578	0.96704	.	.	ENSG00000186480	ENST00000340368	T	0.57595	0.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.73975	-0.3813	10	0.51188	T	0.08	.	18.8026	0.92023	0.0:0.0:1.0:0.0	.	166	O15503	INSI1_HUMAN	L	166	ENSP00000344741:R166L	ENSP00000344741:R166L	R	+	2	0	INSIG1	154724293	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.451000	0.97610	2.602000	0.87976	0.655000	0.94253	CGC		0.433	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		138	563	1	0	2.23197e-56	1	2.79295e-56	138	563					T	155093360	G	T	155093360	3	4	79	1	0	0	0	0	1	0	0	0	7795	1087	38	3	503	3	INSIG1	7	155093360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230084	155093360	4045303	9108	19425											
CNPY1	285888	broad.mit.edu	37	chr7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaattcttggtatatTttgtctcctttcctaggagc	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393																																						ENST00000321736.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(79-81)aaA>aaC		canopy FGF signaling regulator 1							75	73	74					7																	155301652		1802	4071	5873	SO:0001583	missense	285888							g.chr7:155301652T>G		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.81A>C	7.37:g.155301652T>G	ENSP00000317439:p.Lys27Asn					CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N	p.K27N	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	243	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	27					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.81A>C	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501138	0.26861	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35421	1.31;1.31	4.85	-0.421	0.12332	.	0.372425	0.28332	N	0.015735	T	0.20455	0.0492	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.34722	0.188	T	0.12708	-1.0537	9	0.29301	T	0.29	-2.7614	0.481	0.00547	0.2498:0.1441:0.2583:0.3478	.	27	Q3B7I2	CNPY1_HUMAN	N	27	ENSP00000384514:K27N;ENSP00000317439:K27N	ENSP00000317439:K27N	K	-	3	2	CNPY1	154994413	0.271000	0.24162	0.204000	0.23530	0.583000	0.36354	0.016000	0.13377	-0.336000	0.08438	0.455000	0.32223	AAA		0.393	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		82	325	0	0	0	1	0	82	325					G	155301652	T	G	155301652	3	3	79	1	0	0	0	0	1	0	0	0	3636	1838	64	4	209	4	CNPY1	7	155301652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208292	155301652	3837011	9109	19426											
RBM33	155435	broad.mit.edu	37	chr7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaaggatgatgatgaCcccgccacccgtgactccac	9	17	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	373	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGATGACCCCGCCACCC	0.602																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1117-1119)aCc>aTc		RNA binding motif protein 33							64	78	73					7																	155504066		2110	4218	6328	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155504066C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1118C>T	7.37:g.155504066C>T	ENSP00000384160:p.Thr373Ile					RBM33_ENST00000486747.1_3'UTR	p.T373I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1316	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	373			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1118C>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010313|3.010313	0.54361|0.54361	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.52754	.|0.65	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.64776	.|0.929;0.929	T|T	0.56275|0.56275	-0.8006|-0.8006	5|9	.|0.36615	.|T	.|0.2	.|.	13.1715|13.1715	0.59602|0.59602	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|90;373	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	S|I	145|373;274	.|ENSP00000384160:T373I	.|ENSP00000384160:T373I	P|T	+|+	1|2	0|0	RBM33|RBM33	155196827|155196827	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.768000|0.768000	0.43524|0.43524	3.648000|3.648000	0.54410|0.54410	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	CCC|ACC		0.602	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		34	204	0	0	0	1	0	34	204					T	155504066	C	T	155504066	3	4	79	1	0	0	0	0	1	0	0	0	13180	507	18	2	1148	2	RBM33	7	155504066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202414	155504066	3634597	9110	19427											
RBM33	155435	broad.mit.edu	37	chr7	155556568	155556568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcttccccagcctccGgaagtgggaccacagcctgc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1014							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCAGCCTCCGGAAGTGGGAC	0.657																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(3040-3042)ccG>ccA		RNA binding motif protein 33							14	17	16					7																	155556568		1985	4168	6153	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155556568G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3042G>A	7.37:g.155556568G>A						RBM33_ENST00000341148.3_5'UTR	p.P1014P	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	15	3240	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	1014					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.3042G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312011	0.05422	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.91	-3.05	0.05396	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62416	-0.6859	4	.	.	.	.	15.7905	0.78357	0.4084:0.0:0.5916:0.0	.	.	.	.	Q	787	.	.	R	+	2	0	RBM33	155249329	0.571000	0.26659	0.106000	0.21319	0.233000	0.25261	-0.089000	0.11180	-1.219000	0.02597	-0.982000	0.02568	CGG		0.657	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		15	71	0	0	0	1	0	15	71					A	155556568	G	A	155556568	2	1	79	1	0	0	0	0	0	0	0	1	13180	1103	39	1		1	RBM33	7	155556568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52502	155556568	3582095	9111	19428											
RBM33	155435	broad.mit.edu	37	chr7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcccatgggccgggggCgcctgatgccaaacaagcag	15	14	0	1	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1080							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GGGCCGGGGGCGCCTGATGCC	0.612																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(3238-3240)Cgc>Tgc		RNA binding motif protein 33		C	CYS/ARG	0,4406		0,0,2203	35	36	36		3238	5.5	1	7	dbSNP_134	36	1,8597	2.2+/-6.3	0,1,4298	yes	missense	RBM33	NM_053043.2	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1080/1171	155559212	1,13003	2203	4299	6502	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155559212C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3238C>T	7.37:g.155559212C>T	ENSP00000384160:p.Arg1080Cys					RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	p.R1080C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	16	3436	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	1080					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.3238C>T	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701164	0.88924	0.0	1.16E-4	ENSG00000184863	ENST00000401878;ENST00000438356;ENST00000341148	T	0.59638	0.25	5.54	5.54	0.83059	.	0.000000	0.40385	U	0.001104	T	0.75466	0.3853	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.87578	0.774;0.998	T	0.77112	-0.2708	10	0.87932	D	0	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	798;1080	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	1080;16;16	ENSP00000384160:R1080C	ENSP00000341583:R16C	R	+	1	0	RBM33	155251973	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	7.117000	0.77129	2.589000	0.87451	0.655000	0.94253	CGC		0.612	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		20	146	0	0	0	1	0	20	146					T	155559212	C	T	155559212	3	4	79	1	0	0	0	0	1	0	0	0	13180	768	27	1	3300	1	RBM33	7	155559212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2644	155559212	3579451	9112	19429											
RNF32	140545	broad.mit.edu	37	chr7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcctgtgctcatacaAcaccaacattgaagagctct	6	14	2	2	rs200222056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	241						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(721-723)aAc>aCc		ring finger protein 32							132	128	129					7																	156468427		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468427A>C		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.722A>C	7.37:g.156468427A>C	ENSP00000385285:p.Asn241Thr					RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|AC005534.9_ENST00000430825.1_RNA	p.N241T			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1131	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	241					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.722A>C	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	3.878	-0.026452	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22743	2.3;2.3;2.3;1.94;2.3;1.97	5.23	1.57	0.23409	.	0.722210	0.14790	N	0.298282	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.001	T	0.27054	-1.0085	10	0.30854	T	0.27	-3.3078	8.2561	0.31758	0.6967:0.0:0.3033:0.0	.	241;241	G5E940;Q9H0A6	.;RNF32_HUMAN	T	241;241;241;241;241;217	ENSP00000405588:N241T;ENSP00000315950:N241T;ENSP00000385285:N241T;ENSP00000308894:N241T;ENSP00000376499:N241T;ENSP00000341185:N217T	ENSP00000308894:N241T	N	+	2	0	RNF32	156161188	0.000000	0.05858	0.052000	0.19188	0.584000	0.36387	0.021000	0.13489	0.029000	0.15352	-0.274000	0.10170	AAC		0.517	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		84	443	0	0	0	1	0	84	443					C	156468427	A	C	156468427	3	2	79	1	0	0	0	0	1	0	0	0	13538	43	2	4	748	4	RNF32	7	156468427	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	909215	156468427	2670236	9113	19430											
RNF32	140545	broad.mit.edu	37	chr7	156468458	156468458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagctctttgcagaaatCgatcagtgcttggccataaa	10	8	2	2	rs560066728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	251						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(751-753)atC>atT		ring finger protein 32							153	147	149					7																	156468458		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468458C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.753C>T	7.37:g.156468458C>T						RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I|RNF32_ENST00000432459.2_Silent_p.I251I|AC005534.9_ENST00000430825.1_RNA	p.I251I			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1162	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	251					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.753C>T	CCDS5944.1																																																																																				0.488	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		99	512	0	0	0	1	0	99	512					T	156468458	C	T	156468458	2	4	79	1	0	0	0	0	0	0	0	1	13538	874	31	1		1	RNF32	7	156468458	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	156468458	2670205	9114	19431											
LMBR1	64327	broad.mit.edu	37	chr7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatagggtagatagaactcCcagagatctattaaaaaaaa	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	186					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATAGAACTCCCAGAGATCta	0.289																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(556-558)tgG>tgA		limb development membrane protein 1							23	26	25					7																	156555863		2185	4269	6454	SO:0001587	stop_gained	64327					integral to membrane	receptor activity	g.chr7:156555863C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.558G>A	7.37:g.156555863C>T	ENSP00000326604:p.Trp186*					LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	p.W186*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	7	794	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	186					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Nonsense_Mutation	SNP	ENST00000353442.5	37	c.558G>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	38	6.944995	0.97952	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0404	18.8532	0.92241	0.0:1.0:0.0:0.0	.	.	.	.	X	186;34;184;186;165;186	.	ENSP00000337803:W186X	W	-	3	0	LMBR1	156248624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.266000	0.58871	2.547000	0.85894	0.655000	0.94253	TGG		0.289	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		16	139	0	0	0	1	0	16	139					T	156555863	C	T	156555863	4	4	79	1	0	0	0	0	0	1	0	0	8873	624	22	2	958	2	LMBR1	7	156555863	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87405	156555863	2582800	9115	19432											
LMBR1	64327	broad.mit.edu	37	chr7	156589187	156589187	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcaagattccacaaacCtataaaaagggtaacaagaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site|LMBR1_ENST00000354505.4_Splice_Site	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1						embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCCACAAACCTATAAAAAGG	0.313																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.e5-1		limb development membrane protein 1							44	40	42					7																	156589187		2203	4300	6503	SO:0001630	splice_region_variant	64327					integral to membrane	receptor activity	g.chr7:156589187C>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.320-1G>T	7.37:g.156589187C>A						LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site		NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	5	556	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)						A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Splice_Site	SNP	ENST00000353442.5	37		CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771340	0.49680	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0087	0.89217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1	156281948	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	7.064000	0.76721	2.326000	0.78906	0.485000	0.47835	.		0.313	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	Intron	12	50	1	0	0.00010058	1	0.000102273	12	50					A	156589187	C	A	156589187	5	1	79	1	0	0	0	0	0	0	1	0	8873	695	24	3	1205	3	LMBR1	7	156589187	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	156589187	2549476	9116	19433											
NOM1	64434	broad.mit.edu	37	chr7	156745239	156745240	+	Frame_Shift_Ins	INS	-	-	A													aggagacagtggacttcaagINSaaaaaggaagaactagaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156745239_156745240insA	ENST00000275820.3	+	2	1074_1075	c.1059_1060insA	c.(1060-1062)aaafs	p.K354fs		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	354						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGACTTCAAGAAAAAGGAAGA	0.401																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1057-1062)aaaaaafs		nucleolar protein with MIF4G domain 1																																				SO:0001589	frameshift_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156745239_156745240insA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1064dupA	7.37:g.156745244_156745244dupA	ENSP00000275820:p.Lys354fs						p.KK353fs	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	1074_1075	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	353					Q96I08	Frame_Shift_Ins	INS	ENST00000275820.3	37	c.1059_1060insA	CCDS34787.1																																																																																				0.401	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		53	293						53	293	---	---	---	---	A	156745240	-	A	156745239	7	5	79	1	0	1	1	0	0	0	0	0	10572	933	33	0	1065	0	NOM1	7	156745239	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	156052	156745239	2393424	9117	19434											
MNX1	3110	broad.mit.edu	37	chr7	156803024	156803024	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagcagggcgtcgatgcgGaaatttttggatttttccat	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MNX1_ENST00000543409.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	7					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(19-21)ttC>ttT		motor neuron and pancreas homeobox 1							8	10	10					7																	156803024		1655	3164	4819	SO:0001819	synonymous_variant	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156803024G>A	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.21C>T	7.37:g.156803024G>A							p.F7F	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	321	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	7					F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	c.21C>T	CCDS34788.1																																																																																				0.716	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			13	64	0	0	0	1	0	13	64					A	156803024	G	A	156803024	2	1	79	1	0	0	0	0	0	0	0	1	9720	1165	41	2		2	MNX1	7	156803024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57785	156803024	2335639	9118	19435											
UBE3C	9690	broad.mit.edu	37	chr7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttcccttacgagccctttCtgaatgcactgttgttaata	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	298					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGCCCTTTCTGAATGCACT	0.438																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(892-894)Ctg>Atg		ubiquitin protein ligase E3C							102	101	101					7																	156974923		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974923C>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.892C>A	7.37:g.156974923C>A	ENSP00000309198:p.Leu298Met					UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	p.L298M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	8	1252	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	298					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.892C>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259424	0.59321	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55588	0.51	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.998;0.999	T	0.69105	-0.5233	10	0.33940	T	0.23	.	18.4758	0.90792	0.0:1.0:0.0:0.0	.	298;298;255	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	M	298;255	ENSP00000309198:L298M	ENSP00000309198:L298M	L	+	1	2	UBE3C	156667684	1.000000	0.71417	0.705000	0.30386	0.062000	0.15995	7.455000	0.80726	2.366000	0.80165	0.455000	0.32223	CTG		0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		96	481	1	0	1.45855e-51	1	1.81083e-51	96	481					A	156974923	C	A	156974923	3	1	79	1	0	0	0	0	1	0	0	0	16935	912	32	3	922	3	UBE3C	7	156974923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171899	156974923	2163740	9119	19436											
NCAPG2	54892	broad.mit.edu	37	chr7	158448052	158448052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgctgaagatggatgctCaggcgacagtggagaccaaa	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409423.1	-	21	2656	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000409339.3_Silent_p.L828L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2482-2484)ctG>ctA		non-SMC condensin II complex, subunit G2							142	158	152					7																	158448052		2081	4216	6297	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158448052C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2484G>A	7.37:g.158448052C>T						NCAPG2_ENST00000409423.1_Silent_p.L828L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000275830.10_Silent_p.L620L	p.L828L			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	20	2597	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	828					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2484G>A	CCDS43686.1																																																																																				0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		170	884	0	0	0	1	0	170	884					T	158448052	C	T	158448052	2	4	79	1	0	0	0	0	0	0	0	1	10250	813	29	2		2	NCAPG2	7	158448052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473129	158448052	690611	9120	19437											
NCAPG2	54892	broad.mit.edu	37	chr7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctcgcaccagacctcCtccggctgattcacaggcag	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409423.1	-	15	1771	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000409339.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	533					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1597-1599)gaG>gaT		non-SMC condensin II complex, subunit G2							91	96	94					7																	158457323		2139	4259	6398	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158457323C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1599G>T	7.37:g.158457323C>A	ENSP00000386569:p.Glu533Asp					NCAPG2_ENST00000409423.1_Missense_Mutation_p.E533D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D	p.E533D			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	14	1712	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	533					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1599G>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.41;1.41;1.49;1.41;1.41|.	5.71|5.71	3.88|3.88	0.44766|0.44766	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60196|0.60196	0.2250|0.2250	L|L	0.50333|0.50333	1.59|1.59	0.46458|0.46458	D|D	0.999054|0.999054	D;D;D;D|.	0.89917|.	1.0;0.996;0.999;1.0|.	D;P;D;D|.	0.87578|.	0.998;0.875;0.991;0.996|.	T|T	0.57985|0.57985	-0.7716|-0.7716	10|5	0.36615|.	T|.	0.2|.	-33.4837|-33.4837	11.8166|11.8166	0.52214|0.52214	0.0:0.8046:0.0:0.1954|0.0:0.8046:0.0:0.1954	.|.	533;34;325;533|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	D|M	34;533;533;325;533;34;533|335	ENSP00000442337:E34D;ENSP00000348657:E533D;ENSP00000386569:E533D;ENSP00000275830:E325D;ENSP00000387007:E533D;ENSP00000388326:E533D|.	ENSP00000275830:E325D|.	E|R	-|-	3|2	2|0	NCAPG2|NCAPG2	158150084|158150084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.617000|1.617000	0.36943|0.36943	1.548000|1.548000	0.49413|0.49413	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.572	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		87	457	1	0	2.93434e-44	1	3.58945e-44	87	457					A	158457323	C	A	158457323	3	1	79	1	0	0	0	0	1	0	0	0	10250	680	24	3	1892	3	NCAPG2	7	158457323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9271	158457323	681340	9121	19438											
NCAPG2	54892	broad.mit.edu	37	chr7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctcttccactccctgccGaactttcttttgatggtgaa	6	13	2	2	rs201348020		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409423.1	-	11	1130	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000409339.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	320					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCCCTGCCGAACTTTCTTT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		16217	0.0		0.001	False		,,,				2504	0.0					ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(958-960)Cgg>Tgg		non-SMC condensin II complex, subunit G2							79	75	76					7																	158473475		1805	4069	5874	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158473475G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.958C>T	7.37:g.158473475G>A	ENSP00000386569:p.Arg320Trp					NCAPG2_ENST00000409423.1_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W	p.R320W			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	10	1071	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	320					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.958C>T	CCDS43686.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.768352	0.49680	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.22	5.22	0.72569	Armadillo-type fold (1);	0.297322	0.37261	N	0.002179	T	0.67325	0.2881	L	0.57536	1.79	0.47737	D	0.999508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.69658	-0.5086	10	0.87932	D	0	-20.4179	19.1636	0.93544	0.0:0.0:1.0:0.0	.	320;112;320	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	W	320;320;112;320;320	ENSP00000348657:R320W;ENSP00000386569:R320W;ENSP00000275830:R112W;ENSP00000387007:R320W;ENSP00000388326:R320W	ENSP00000275830:R112W	R	-	1	2	NCAPG2	158166236	1.000000	0.71417	0.187000	0.23214	0.144000	0.21451	5.086000	0.64474	2.590000	0.87494	0.655000	0.94253	CGG		0.323	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		29	367	0	0	0	1	0	29	367					A	158473475	G	A	158473475	3	1	79	1	0	0	0	0	1	0	0	0	10250	1057	37	1	2549	1	NCAPG2	7	158473475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16152	158473475	665188	9122	19439											
ESYT2	57488	broad.mit.edu	37	chr7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagctgtgttgctgCcaccagggcctggagaccca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	698					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(2008-2010)gGc>gAc		extended synaptotagmin-like protein 2							59	63	62					7																	158534454		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534454C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2009G>A	7.37:g.158534454C>T	ENSP00000251527:p.Gly670Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	p.G670D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			17	2074	-			698					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2009G>A	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315979	0.01331	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.19669	2.13;2.13;2.53	5.51	2.48	0.30137	.	0.993034	0.08196	N	0.983139	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.39981	-0.9587	10	0.12430	T	0.62	-26.6989	6.1546	0.20330	0.0:0.4376:0.3875:0.1749	.	670;698	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	670;719;661;105;105;494	ENSP00000251527:G670D;ENSP00000275418:G661D;ENSP00000411488:G105D	ENSP00000251527:G670D	G	-	2	0	ESYT2	158227215	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.079000	0.30766	0.614000	0.30107	0.650000	0.86243	GGC		0.572	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		57	276	0	0	0	1	0	57	276					T	158534454	C	T	158534454	3	4	79	1	0	0	0	0	1	0	0	0	5283	739	26	2	696	2	ESYT2	7	158534454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60979	158534454	604209	9123	19440											
WDR60	55112	broad.mit.edu	37	chr7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttgatgatgagaggCaccaaagcaacgtggataga	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	272					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(814-816)Cac>Tac		WD repeat domain 60							76	79	78					7																	158672615		1890	4095	5985	SO:0001583	missense	55112							g.chr7:158672615C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.814C>T	7.37:g.158672615C>T	ENSP00000384290:p.His272Tyr						p.H272Y	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	972	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	272					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.814C>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779189	0.49891	.	.	ENSG00000126870	ENST00000407559	T	0.24151	1.87	4.73	3.83	0.44106	.	0.534306	0.18461	N	0.140511	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	0.999998	P	0.44521	0.837	B	0.37451	0.25	T	0.12889	-1.0530	10	0.02654	T	1	-3.3053	9.3825	0.38322	0.0:0.8948:0.0:0.1052	.	272	Q8WVS4	WDR60_HUMAN	Y	272	ENSP00000384290:H272Y	ENSP00000384290:H272Y	H	+	1	0	WDR60	158365376	0.622000	0.27085	0.325000	0.25375	0.002000	0.02628	0.399000	0.20916	2.339000	0.79563	0.655000	0.94253	CAC		0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		55	168	0	0	0	1	0	55	168					T	158672615	C	T	158672615	3	4	79	1	0	0	0	0	1	0	0	0	17365	710	25	2	832	2	WDR60	7	158672615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138161	158672615	466048	9124	19441											
WDR60	55112	broad.mit.edu	37	chr7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagaatggtgaacacagaAatcgaggtgcaagctcaaaa	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	299					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACACAGAAATCGAGGTGC	0.423																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(895-897)Aat>Cat		WD repeat domain 60							93	94	93					7																	158677270		1930	4147	6077	SO:0001583	missense	55112							g.chr7:158677270A>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.895A>C	7.37:g.158677270A>C	ENSP00000384290:p.Asn299His						p.N299H	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	6	1053	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	299					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.895A>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218884	0.06101	.	.	ENSG00000126870	ENST00000407559	T	0.22945	1.93	4.31	1.86	0.25419	.	0.412908	0.23791	N	0.044526	T	0.11067	0.0270	N	0.17082	0.46	0.19300	N	0.99998	B	0.06786	0.001	B	0.04013	0.001	T	0.33189	-0.9878	10	0.10377	T	0.69	-9.2587	4.4363	0.11552	0.6918:0.2006:0.1076:0.0	.	299	Q8WVS4	WDR60_HUMAN	H	299	ENSP00000384290:N299H	ENSP00000384290:N299H	N	+	1	0	WDR60	158370031	0.121000	0.22262	0.392000	0.26245	0.108000	0.19459	0.617000	0.24359	0.155000	0.19261	0.496000	0.49642	AAT		0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		11	130	0	0	0	1	0	11	130					C	158677270	A	C	158677270	3	2	79	1	0	0	0	0	1	0	0	0	17365	14	1	4	917	4	WDR60	7	158677270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4655	158677270	461393	9125	19442											
VIPR2	7434	broad.mit.edu	37	chr7	158835849	158835849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttcaggtggatgtaattCctggtgcagtgcagcttcct	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	158					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGATGTAATTCCTGGTGCAGT	0.557																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(472-474)agG>agA		vasoactive intestinal peptide receptor 2							113	98	103					7																	158835849		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158835849C>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.474G>A	7.37:g.158835849C>T						VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	p.R158R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	6	659	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	158					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.474G>A	CCDS5950.1																																																																																				0.557	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		31	137	0	0	0	1	0	31	137					T	158835849	C	T	158835849	2	4	79	1	0	0	0	0	0	0	0	1	17224	854	30	2		2	VIPR2	7	158835849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158579	158835849	302814	9126	19443											
VIPR2	7434	broad.mit.edu	37	chr7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttcctgttgcaagagAcatcagagagacactgtagc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	140					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTGCAAGAGACATCAGAGAG	0.408																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(418-420)Tct>Cct		vasoactive intestinal peptide receptor 2							169	163	165					7																	158851209		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851209A>G	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.418T>C	7.37:g.158851209A>G	ENSP00000262178:p.Ser140Pro					VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	p.S140P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	603	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	140					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.418T>C	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.050923	0.75960	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.7	4.59	0.56863	GPCR, family 2-like (1);	0.122369	0.36066	N	0.002805	T	0.49047	0.1534	M	0.89968	3.075	0.80722	D	1	P	0.45078	0.85	P	0.45506	0.483	T	0.57974	-0.7718	9	.	.	.	.	8.8834	0.35389	0.7551:0.2449:0.0:0.0	.	140	P41587	VIPR2_HUMAN	P	140;124;281	ENSP00000262178:S140P;ENSP00000366860:S124P;ENSP00000384497:S281P	.	S	-	1	0	VIPR2	158543970	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	2.922000	0.48860	2.175000	0.68902	0.529000	0.55759	TCT		0.408	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		104	527	0	0	0	1	0	104	527					G	158851209	A	G	158851209	3	3	79	1	0	0	0	0	1	0	0	0	17224	275	10	4	934	4	VIPR2	7	158851209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15360	158851209	287454	9127	19444											
ZNF596	169270	broad.mit.edu	37	chr8	192901	192901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttaggattccatgaccttCgaggatatcattgtagactt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(25-27)ttC>ttT		zinc finger protein 596							138	121	127					8																	192901		2203	4300	6503	SO:0001819	synonymous_variant	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:192901C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.27C>T	8.37:g.192901C>T						ZNF596_ENST00000320552.2_Silent_p.F9F|ZNF596_ENST00000522866.1_3'UTR|ZNF596_ENST00000308811.4_Silent_p.F9F	p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	3	410	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	9			KRAB.		B2R8P4|O95015|Q8N9X0	Silent	SNP	ENST00000398612.1	37	c.27C>T	CCDS5951.2																																																																																				0.438	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		28	189	0	0	0	1	0	28	189					T	192901	C	T	192901	2	4	79	1	0	0	0	0	0	0	0	1	18079	883	31	1		1	ZNF596	8	192901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		192901	146171121	9128	19445											
ZNF596	169270	broad.mit.edu	37	chr8	195764	195764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacttaggagataaacCatatggatgtctcctatgtg	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(916-918)cCa>cTa		zinc finger protein 596							55	52	53					8																	195764		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:195764C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.917C>T	8.37:g.195764C>T	ENSP00000381613:p.Pro306Leu					ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L|ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L	p.P306L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1300	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	306					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.917C>T	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380151	0.61845	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.27557	1.66;2.3;1.66	2.62	2.62	0.31277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49372	0.1553	M	0.62209	1.925	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	9	0.62326	D	0.03	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	306	Q8TC21	ZN596_HUMAN	L	306;236;306	ENSP00000310033:P306L;ENSP00000318719:P236L;ENSP00000381613:P306L	ENSP00000310033:P306L	P	+	2	0	ZNF596	185764	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	5.821000	0.69257	1.792000	0.52537	0.585000	0.79938	CCA		0.393	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		41	162	0	0	0	1	0	41	162					T	195764	C	T	195764	3	4	79	1	0	0	0	0	1	0	0	0	18079	594	21	2	935	2	ZNF596	8	195764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	195764	146168258	9129	19446											
FBXO25	26260	broad.mit.edu	37	chr8	418787	418787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctccgcagcacttcatcGacctcttcaagttttaaggg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000276326.5	+	11	1206	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	363					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCACTTCATCGACCTCTTCAA	0.582																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(859-861)Gac>Aac		F-box protein 25							56	52	53					8																	418787		2203	4300	6503	SO:0001583	missense	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:418787G>A	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.1087G>A	8.37:g.418787G>A	ENSP00000276326:p.Asp363Asn					FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N|FBXO25_ENST00000276326.5_Missense_Mutation_p.D363N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N	p.D287N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	9	1276	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	363					Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.859G>A	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567295	0.65651	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.18338	2.22;2.25	5.73	5.73	0.89815	.	0.100946	0.64402	D	0.000001	T	0.33265	0.0857	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.01382	-1.1369	10	0.16420	T	0.52	-37.9512	17.3742	0.87387	0.0:0.0:1.0:0.0	.	287;354;363	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	354;287;363;326;287	ENSP00000342077:D354N;ENSP00000276326:D363N	ENSP00000276326:D363N	D	+	1	0	FBXO25	408787	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.992000	0.63889	2.702000	0.92279	0.467000	0.42956	GAC		0.582	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		33	185	0	0	0	1	0	33	185					A	418787	G	A	418787	3	1	79	1	0	0	0	0	1	0	0	0	5761	1058	37	1	1125	1	FBXO25	8	418787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223023	418787	145945235	9130	19447											
ERICH1	157697	broad.mit.edu	37	chr8	623643	623643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggtcttcctcgctagCgtccgcaccatcttcctccc	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(709-711)Gct>Act		glutamate-rich 1							128	118	121					8																	623643		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623643C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.709G>A	8.37:g.623643C>T	ENSP00000262109:p.Ala237Thr					ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	p.A237T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	786	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	237			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.709G>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934118	0.02340	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.35973	1.28;1.4	1.47	-2.93	0.05598	.	.	.	.	.	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25537	-1.0129	9	0.13470	T	0.59	.	0.6768	0.00868	0.1732:0.2483:0.172:0.4065	.	237;237;143	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	237;143;237	ENSP00000428635:A143T;ENSP00000262109:A237T	ENSP00000262109:A237T	A	-	1	0	ERICH1	613643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.912000	0.01582	-1.447000	0.01943	-3.692000	0.00024	GCT		0.617	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		167	674	0	0	0	1	0	167	674					T	623643	C	T	623643	3	4	79	1	0	0	0	0	1	0	0	0	5248	768	27	1	634	1	ERICH1	8	623643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204856	623643	145740379	9131	19448											
ERICH1	157697	broad.mit.edu	37	chr8	623821	623821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctttgctgccaagccGgctgctttcttccttttaat	8	13	1	0	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000522706.1_Silent_p.A83A|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	177										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGCCAAGCCGGCTGCTTTCT	0.483																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(529-531)gcC>gcA		glutamate-rich 1							70	73	72					8																	623821		2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:623821G>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.531C>A	8.37:g.623821G>T						ERICH1_ENST00000522706.1_Silent_p.A83A	p.A177A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	608	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	177					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.531C>A	CCDS5955.1																																																																																				0.483	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		18	500	1	0	5.01169e-05	1	5.1097e-05	18	500					T	623821	G	T	623821	2	4	79	1	0	0	0	0	0	0	0	1	5248	1103	39	3		3	ERICH1	8	623821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	623821	145740201	9132	19449											
DLGAP2	9228	broad.mit.edu	37	chr8	1580998	1580998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatgattgcaggtgagCgaggcggagatcaatgggca	17	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	531					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCAGGTGAGCGAGGCGGAGA	0.587																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1354-1356)agC>agT		discs, large (Drosophila) homolog-associated protein 2							103	107	105					8																	1580998		2181	4269	6450	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1580998C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1356C>T	8.37:g.1580998C>T							p.S452S	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	5	1490	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	531					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1356C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425295	0.04701	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73392	-0.3997	4	.	.	.	-10.2684	17.3139	0.87217	0.0:0.0974:0.0:0.9026	.	.	.	.	V	469	.	.	A	+	2	0	DLGAP2	1568405	0.999000	0.42202	0.250000	0.24296	0.151000	0.21798	0.431000	0.21444	-2.268000	0.00685	-1.022000	0.02435	GCG		0.587	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		10	86	0	0	0	1	0	10	86					T	1580998	C	T	1580998	2	4	79	1	0	0	0	0	0	0	0	1	4576	767	27	1		1	DLGAP2	8	1580998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957177	1580998	144783024	9133	19450											
DLGAP2	9228	broad.mit.edu	37	chr8	1624783	1624783	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtggaagatgagaagCggtaactcagcccctcctga	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.e8+1		discs, large (Drosophila) homolog-associated protein 2							33	37	36					8																	1624783		1911	4134	6045	SO:0001630	splice_region_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1624783C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1C>T	8.37:g.1624783C>T							p.R683_splice	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	8	2181	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	762					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Splice_Site	SNP	ENST00000421627.2	37	c.2048_splice	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864159	0.97043	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	.	.	.	5.66	2.83	0.33086	.	0.107337	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-4.6979	14.5081	0.67767	0.5095:0.4905:0.0:0.0	.	.	.	.	X	714;683	.	ENSP00000348366:R714X	R	+	1	2	DLGAP2	1612190	1.000000	0.71417	0.906000	0.35671	0.060000	0.15804	1.383000	0.34385	0.292000	0.22492	-0.309000	0.09137	CGA		0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	Nonsense_Mutation	10	65	0	0	0	1	0	10	65					T	1624783	C	T	1624783	5	4	79	1	0	0	0	0	0	0	1	0	4576	782	27	1	2073	1	DLGAP2	8	1624783	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43785	1624783	144739239	9134	19451											
DLGAP2	9228	broad.mit.edu	37	chr8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacgttctaacagcgtcaCggccgccgtccaagctgacc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	773					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2080-2082)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							53	59	57					8																	1626412		2092	4194	6286	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626412C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2081C>T	8.37:g.1626412C>T	ENSP00000400258:p.Thr694Met						p.T694M	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2215	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	773					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2081C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601107|4.601107	0.87055|0.87055	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.80616|0.80616	2.505|2.505	0.49687|0.49687	D|D	0.99981|0.99981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.984;0.991	T|T	0.58329|0.58329	-0.7655|-0.7655	5|10	.|0.87932	.|D	.|0	-9.9664|-9.9664	17.9665|17.9665	0.89100|0.89100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|759;773	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	697|725;694	.|ENSP00000400258:T694M	.|ENSP00000348366:T725M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613819|1613819	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.925000|0.925000	0.55904|0.55904	7.350000|7.350000	0.79385|0.79385	2.231000|2.231000	0.72958|0.72958	0.557000|0.557000	0.71058|0.71058	CGG|ACG		0.562	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		47	268	0	0	0	1	0	47	268					T	1626412	C	T	1626412	3	4	79	1	0	0	0	0	1	0	0	0	4576	536	19	1	2111	1	DLGAP2	8	1626412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1629	1626412	144737610	9135	19452											
CLN8	2055	broad.mit.edu	37	chr8	1719499	1719499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccctgtgctgcatgcCgacaaggcgcgtggccagca	16	13	0	0	rs372313992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	93	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCTGCATGCCGACAAGGCGC	0.582																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(277-279)gcC>gcT		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)		C		1,4405	2.1+/-5.4	0,1,2202	97	89	91		279	-10.1	0	8		91	0,8600		0,0,4300	no	coding-synonymous	CLN8	NM_018941.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		93/287	1719499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719499C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.279C>T	8.37:g.1719499C>T							p.A93A	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	526	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	93			TLC.		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.279C>T	CCDS5956.1																																																																																				0.582	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		44	413	0	0	0	1	0	44	413					T	1719499	C	T	1719499	2	4	79	1	0	0	0	0	0	0	0	1	3555	639	23	1		1	CLN8	8	1719499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93087	1719499	144644523	9136	19453											
ARHGEF10	9639	broad.mit.edu	37	chr8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccattttagattgaatgtgCtgcttataaccctgaacctt	6	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000398564.1	+	23	2696	c.2696C>A	c.(2695-2697)gCt>gAt	p.A899D	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A898D|ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	899					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGAATGTGCTGCTTATAAC	0.378																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2692-2694)gCt>gAt		Rho guanine nucleotide exchange factor (GEF) 10							179	165	170					8																	1874553		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1874553C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2696C>A	8.37:g.1874553C>A	ENSP00000381571:p.Ala899Asp					ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A899D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000262112.6_Intron	p.A898D			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	24	2856	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	899					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2693C>A		.	.	.	.	.	.	.	.	.	.	C	16.78	3.218496	0.58560	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564	T;T;T;T	0.61627	0.1;0.16;0.09;0.09	5.26	5.26	0.73747	.	0.115630	0.56097	D	0.000021	T	0.78142	0.4237	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.72075	0.967;0.976;0.953	T	0.81215	-0.1034	10	0.72032	D	0.01	-14.6941	18.8647	0.92287	0.0:1.0:0.0:0.0	.	899;836;874	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	D	874;836;898;899	ENSP00000340297:A874D;ENSP00000427909:A836D;ENSP00000431012:A898D;ENSP00000381571:A899D	ENSP00000340297:A874D	A	+	2	0	ARHGEF10	1861960	1.000000	0.71417	0.945000	0.38365	0.017000	0.09413	6.550000	0.73905	2.437000	0.82529	0.650000	0.86243	GCT		0.378	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				24	269	1	0	6.32553e-13	1	6.81307e-13	24	269					A	1874553	C	A	1874553	3	1	79	1	0	0	0	0	1	0	0	0	894	797	28	3	2707	3	ARHGEF10	8	1874553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155054	1874553	144489469	9137	19454											
MYOM2	9172	broad.mit.edu	37	chr8	2092671	2092671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggacatccagctcagCgagcacttctcggtgaaggt	12	12	2	1	rs201809676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2092671C>T	ENST00000262113.4	+	37	4305	c.4164C>T	c.(4162-4164)agC>agT	p.S1388S	MYOM2_ENST00000523438.1_Silent_p.S813S|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1388	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCAGCTCAGCGAGCACTTCT	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4162-4164)agC>agT		myomesin 2							115	100	105					8																	2092671		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092671C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4164C>T	8.37:g.2092671C>T						MYOM2_ENST00000523438.1_Silent_p.S813S|MYOM2_ENST00000520298.1_3'UTR	p.S1388S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4305	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1388			Ig-like C2-type 5.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.4164C>T	CCDS5957.1																																																																																				0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		18	463	0	0	0	1	0	18	463					T	2092671	C	T	2092671	2	4	79	1	0	0	0	0	0	0	0	1	10133	767	27	1		1	MYOM2	8	2092671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218118	2092671	144271351	9138	19455											
CSMD1	64478	broad.mit.edu	37	chr8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtattccaaagtgtggcGtaccagggtctgggcaggtg	15	8	2	0	rs201200691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000520002.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348																																						ENST00000602557.1																			2	Substitution - Missense(2)	p.T2950K(1)|p.T3221K(1)	kidney(2)	breast(20)|large_intestine(5)	25						c.(9664-9666)aCg>aTg		CUB and Sushi multiple domains 1							77	74	75					8																	2818703		1842	4103	5945	SO:0001583	missense	64478					integral to membrane		g.chr8:2818703G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9665C>T	8.37:g.2818703G>A	ENSP00000430733:p.Thr3222Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M	p.T3222M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	63	10220	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3222			Sushi 27.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9665C>T		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737291	0.49045	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.55103	1.725	0.80722	D	1	D;P;D	0.69078	0.997;0.52;0.995	D;B;D	0.66497	0.91;0.223;0.944	T	0.74131	-0.3764	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	3222;3222;3044	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	3045;3222;3083;3221;3044	ENSP00000383047:T3045M;ENSP00000430733:T3222M;ENSP00000441462:T3221M;ENSP00000446243:T3044M	ENSP00000320445:T3083M	T	-	2	0	CSMD1	2806110	1.000000	0.71417	0.104000	0.21259	0.343000	0.28985	5.299000	0.65716	2.755000	0.94549	0.650000	0.86243	ACG		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		24	109	0	0	0	1	0	24	109					A	2818703	G	A	2818703	3	1	79	1	0	0	0	0	1	0	0	0	3955	1145	40	1	1068	1	CSMD1	8	2818703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726032	2818703	143545319	9139	19456											
CSMD1	64478	broad.mit.edu	37	chr8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacactctcgtgtcgttgCctatgaggctctcgctccct	10	15	2	1	rs532302924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2894	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGTCGTTGCCTATGAGGCT	0.597													C|||	0	0.0	0.0	0.0	5008	,	,		15651	0.0		0.0	False		,,,				2504	0.0					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8680-8682)gGc>gAc		CUB and Sushi multiple domains 1							53	55	54					8																	2832035		2019	4185	6204	SO:0001583	missense	64478					integral to membrane		g.chr8:2832035C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8681G>A	8.37:g.2832035C>T	ENSP00000430733:p.Gly2894Asp					CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D	p.G2894D			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9236	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2894			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8681G>A		.	.	.	.	.	.	.	.	.	.	C	17.10	3.302160	0.60195	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.66	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.7098	0.69222	0.0:0.9304:0.0:0.0696	.	2894;2894;2835	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2836;2894;2755;2893;2835	ENSP00000383047:G2836D;ENSP00000430733:G2894D;ENSP00000441462:G2893D;ENSP00000446243:G2835D	ENSP00000320445:G2755D	G	-	2	0	CSMD1	2819442	1.000000	0.71417	0.138000	0.22173	0.003000	0.03518	7.642000	0.83385	1.387000	0.46486	0.655000	0.94253	GGC		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		22	117	0	0	0	1	0	22	117					T	2832035	C	T	2832035	3	4	79	1	0	0	0	0	1	0	0	0	3955	739	26	2	2076	2	CSMD1	8	2832035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13332	2832035	143531987	9140	19457											
CSMD1	64478	broad.mit.edu	37	chr8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttctaagtagtaaccaGgactgcagctcagcaatact	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGTAACCAGGACTGCAGCT	0.537																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7771-7773)cCt>cAt		CUB and Sushi multiple domains 1							74	72	73					8																	2886927		2012	4174	6186	SO:0001583	missense	64478					integral to membrane		g.chr8:2886927G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7772C>A	8.37:g.2886927G>T	ENSP00000430733:p.Pro2591His					CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H	p.P2591H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8327	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2591			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7772C>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.241112	0.79912	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.279436	0.29737	N	0.011325	D	0.83229	0.5209	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.74348	0.964;0.983;0.891	D	0.85819	0.1384	10	0.72032	D	0.01	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	2591;2591;2590	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2591;2591;2452;2590;2590	ENSP00000383047:P2591H;ENSP00000430733:P2591H;ENSP00000441462:P2590H;ENSP00000446243:P2590H	ENSP00000320445:P2452H	P	-	2	0	CSMD1	2874334	1.000000	0.71417	0.133000	0.22050	0.944000	0.59088	8.285000	0.89914	2.552000	0.86080	0.591000	0.81541	CCT		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		21	77	1	0	2.4624e-09	1	2.59004e-09	21	77					T	2886927	G	T	2886927	3	4	79	1	0	0	0	0	1	0	0	0	3955	1000	35	3	3005	3	CSMD1	8	2886927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54892	2886927	143477095	9141	19458											
CSMD1	64478	broad.mit.edu	37	chr8	3087562	3087562	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagttctgttgtctgatacCtatgcatgtaggagggtctg	12	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A1449S(1)|p.A1178S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418																																						ENST00000602557.1																			2	Substitution - Missense(2)	p.A1449S(1)|p.A1178S(1)	lung(2)	breast(20)|large_intestine(5)	25						c.e28+1		CUB and Sushi multiple domains 1							89	84	86					8																	3087562		1885	4117	6002	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3087562C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4348+1G>T	8.37:g.3087562C>A						CSMD1_ENST00000539096.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A1450_splice|CSMD1_ENST00000537824.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000523387.1_5'UTR	p.A1450_splice			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	28	4903	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1450			Sushi 8.		Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.4348_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	42	257	1	0	4.00472e-15	1	4.3668e-15	42	257					A	3087562	C	A	3087562	5	1	79	1	0	0	0	0	0	0	1	0	3955	695	24	3	6525	3	CSMD1	8	3087562	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200635	3087562	143276460	9142	19459											
CSMD1	64478	broad.mit.edu	37	chr8	3141743	3141743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagtgagttgaaggtgCtgtggatgtcctccggaagg	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000520002.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1360	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGAAGGTGCTGTGGATGTC	0.577											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(4078-4080)aGc>aTc		CUB and Sushi multiple domains 1							100	115	110					8																	3141743		2141	4267	6408	SO:0001583	missense	64478					integral to membrane		g.chr8:3141743C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4079G>T	8.37:g.3141743C>A	ENSP00000430733:p.Ser1360Ile		OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000523387.1_5'UTR	p.S1360I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4634	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1360			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4079G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157117|4.157117	0.78114|0.78114	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	5.12|5.12	5.12|5.12	0.69794|0.69794	.|CUB (5);	.|0.146217	.|0.48767	.|D	.|0.000167	D|D	0.87273|0.87273	0.6136|0.6136	H|H	0.94306|0.94306	3.52|3.52	0.46131|0.46131	D|D	0.998881|0.998881	.|D;D;D	.|0.89917	.|0.999;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.975	D|D	0.90898|0.90898	0.4766|0.4766	5|10	.|0.72032	.|D	.|0.01	.|.	18.573|18.573	0.91144|0.91144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1360;1360;1360	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	H|I	839|1360;1360;1222;1359;1359;1359	.|ENSP00000383047:S1360I;ENSP00000430733:S1360I;ENSP00000441462:S1359I;ENSP00000446243:S1359I;ENSP00000441675:S1359I	.|ENSP00000320445:S1222I	Q|S	-|-	3|2	2|0	CSMD1|CSMD1	3129150|3129150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.850000|4.850000	0.62889|0.62889	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.577	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	86	1	0	1.08611e-07	1	1.12939e-07	12	86					A	3141743	C	A	3141743	3	1	79	1	0	0	0	0	1	0	0	0	3955	797	28	3	6798	3	CSMD1	8	3141743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54181	3141743	143222279	9143	19460											
CSMD1	64478	broad.mit.edu	37	chr8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcactccacacacggcGgcccccacccaggcaggtaa	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000520002.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1091	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACACGGCGGCCCCCACCC	0.552																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3271-3273)Cgc>Tgc		CUB and Sushi multiple domains 1							69	74	72					8																	3216710		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216710G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3271C>T	8.37:g.3216710G>A	ENSP00000430733:p.Arg1091Cys					CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C	p.R1091C			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3826	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1091			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3271C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.320993|4.320993	0.81580|0.81580	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;1.0;1.0	D|D	0.88420|0.88420	0.3028|0.3028	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1091;1091;1091	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	570|1091;1091;953;1090;1090;1090	.|ENSP00000383047:R1091C;ENSP00000430733:R1091C;ENSP00000441462:R1090C;ENSP00000446243:R1090C;ENSP00000441675:R1090C	.|ENSP00000320445:R953C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204117|3204117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.104000|6.104000	0.71498|0.71498	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGC		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		84	414	0	0	0	1	0	84	414					A	3216710	G	A	3216710	3	1	79	1	0	0	0	0	1	0	0	0	3955	1116	39	1	7626	1	CSMD1	8	3216710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74967	3216710	143147312	9144	19461											
CSMD1	64478	broad.mit.edu	37	chr8	3253870	3253870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggcccatctctgacCtccaaggtgtcataattgac	9	13	2	2	rs376085929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	814	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCTCTGACCTCCAAGGTGT	0.527																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2440-2442)gaG>gaA		CUB and Sushi multiple domains 1		C		1,4317		0,1,2158	49	63	58		2439	-6.3	0.1	8		58	0,8538		0,0,4269	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6427	TT,TC,CC		0.0,0.0232,0.0078		813/3565	3253870	1,12855	2159	4269	6428	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3253870C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2442G>A	8.37:g.3253870C>T						CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000520002.1_Silent_p.E814E|CSMD1_ENST00000542608.1_Silent_p.E813E	p.E814E			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	18	2997	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	814			CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2442G>A		.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895059	0.02491	2.32E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.3	-6.3	0.02007	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63519	-0.6619	4	.	.	.	.	14.2824	0.66221	0.0:0.5879:0.0:0.4121	.	.	.	.	S	294	.	.	G	-	1	0	CSMD1	3241277	0.994000	0.37717	0.083000	0.20561	0.013000	0.08279	0.349000	0.20055	-1.647000	0.01511	-0.136000	0.14681	GGT		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	46	0	0	0	1	0	12	46					T	3253870	C	T	3253870	2	4	79	1	0	0	0	0	0	0	0	1	3955	680	24	2		2	CSMD1	8	3253870	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37160	3253870	143110152	9145	19462											
MCPH1	79648	broad.mit.edu	37	chr8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgatacattcaagacccaGgagttcctcagtaaagagaa	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M|MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	350					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1048-1050)aGg>aTg		microcephalin 1							44	41	42					8																	6302292		1881	4119	6000	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302292G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1049G>T	8.37:g.6302292G>T	ENSP00000342924:p.Arg350Met					MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	p.R350M	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1125	+		Hepatocellular(245;0.0663)	350					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1049G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789857	0.31685	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.29	-10.6	0.00265	.	1.665360	0.02325	N	0.073407	T	0.08403	0.0209	L	0.28274	0.84	0.09310	N	1	P;B;P	0.36599	0.56;0.075;0.56	B;B;B	0.44315	0.446;0.091;0.446	T	0.19257	-1.0311	10	0.27785	T	0.31	-0.9165	5.3618	0.16091	0.1852:0.0909:0.5436:0.1803	.	302;350;350	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	M	350;350;302	ENSP00000342924:R350M;ENSP00000430962:R350M;ENSP00000430768:R302M	ENSP00000342924:R350M	R	+	2	0	MCPH1	6289700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.526000	0.02229	-2.319000	0.00643	-0.961000	0.02630	AGG		0.453	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		30	181	1	0	1.16021e-09	1	1.22295e-09	30	181					T	6302292	G	T	6302292	3	4	79	1	0	0	0	0	1	0	0	0	9439	1000	35	3	1079	3	MCPH1	8	6302292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048422	6302292	140061730	9146	19463											
XKR5	389610	broad.mit.edu	37	chr8	6673409	6673409	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagtcggtggccaacAgcaacaggatgatgttctcc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	ENST00000518724.1	-	0	989							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGTGGCCAACAGCAACAGGAT	0.587											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							74	85	81					8																	6673409		2093	4216	6309			389610					integral to membrane		g.chr8:6673409A>C	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673409A>C			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	989	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.587	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		6	49	0	0	0	1	0	6	49					C	6673409	A	C	6673409	1	2	79	0	1	0	0	0	0	0	0	0	17488	188	7	4		4	XKR5	8	6673409	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371117	6673409	139690613	9147	19464											
XKR5	389610	broad.mit.edu	37	chr8	6681195	6681195	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcatgaagcccatgaagCgagtgtaggacaccagtgcc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	ENST00000518724.1	-	0	635							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCCATGAAGCGAGTGTAGGA	0.592																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							22	25	24					8																	6681195		1987	4162	6149			389610					integral to membrane		g.chr8:6681195C>T	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6681195C>T										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	635	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.592	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		7	29	0	0	0	1	0	7	29					T	6681195	C	T	6681195	1	4	79	0	1	0	0	0	0	0	0	0	17488	768	27	1		1	XKR5	8	6681195	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7786	6681195	139682827	9148	19465											
XKR5	389610	broad.mit.edu	37	chr8	6690240	6690240	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcagctgttcttaccGcttccaaacaccaagctgta	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	ENST00000518724.1	-	0	391				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTTCTTACCGCTTCCAAACA	0.527																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							83	93	89					8																	6690240		2095	4221	6316			389610					integral to membrane		g.chr8:6690240G>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6690240G>A										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	391	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.527	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		66	316	0	0	0	1	0	66	316					A	6690240	G	A	6690240	1	1	79	0	1	0	0	0	0	0	0	0	17488	1101	38	1		1	XKR5	8	6690240	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9045	6690240	139673782	9149	19466											
DEFA6	1671	broad.mit.edu	37	chr8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcataagcttttgcctgcAgtggatcatcctcagcttgg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	29					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572																																						ENST00000297436.2																			0				lung(4)	4						c.(85-87)cTg>cCg		defensin, alpha 6, Paneth cell-specific							66	53	57					8																	6783472		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783472A>G	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"Defensins, alpha"	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.86T>C	8.37:g.6783472A>G	ENSP00000297436:p.Leu29Pro						p.L29P	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	126	-			29					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.86T>C	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186277	0.21870	.	.	ENSG00000164822	ENST00000297436	T	0.35973	1.28	0.559	0.559	0.17272	Defensin propeptide (1);	.	.	.	.	T	0.50718	0.1632	M	0.62016	1.91	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	8	0.33940	T	0.23	.	.	.	.	.	29	Q01524	DEF6_HUMAN	P	29	ENSP00000297436:L29P	ENSP00000297436:L29P	L	-	2	0	DEFA6	6770882	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.469000	0.27268	0.459000	0.35465	CTG		0.572	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		26	88	0	0	0	1	0	26	88					G	6783472	A	G	6783472	3	3	79	1	0	0	0	0	1	0	0	0	4404	188	7	4	224	4	DEFA6	8	6783472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93232	6783472	139580550	9150	19467											
DEFA6	1671	broad.mit.edu	37	chr8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcttggagtggctcaGccttggcctggagggccacg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	19					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597																																						ENST00000297436.2																			0				lung(4)	4						c.(55-57)gCt>gAt		defensin, alpha 6, Paneth cell-specific							56	45	49					8																	6783502		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783502G>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"Defensins, alpha"	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.56C>A	8.37:g.6783502G>T	ENSP00000297436:p.Ala19Asp						p.A19D	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	96	-			19					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.56C>A	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794401	0.16327	.	.	ENSG00000164822	ENST00000297436	T	0.69926	-0.44	1.75	0.848	0.18966	Defensin propeptide (1);	0.209200	0.24020	N	0.042300	T	0.76933	0.4057	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64681	-0.6350	10	0.87932	D	0	.	4.0486	0.09785	0.2223:0.0:0.7777:0.0	.	19	Q01524	DEF6_HUMAN	D	19	ENSP00000297436:A19D	ENSP00000297436:A19D	A	-	2	0	DEFA6	6770912	0.056000	0.20664	0.010000	0.14722	0.095000	0.18619	1.088000	0.30877	0.313000	0.23062	0.561000	0.74099	GCT		0.597	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		17	75	1	0	4.96729e-08	1	5.17613e-08	17	75					T	6783502	G	T	6783502	3	4	79	1	0	0	0	0	1	0	0	0	4404	971	34	3	254	3	DEFA6	8	6783502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	6783502	139580520	9151	19468											
DEFA4	1669	broad.mit.edu	37	chr8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaacctgaagagcagaGcttttatcccatgcaaagga	9	10	0	4	rs554641481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	51					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(151-153)agC>agA		defensin, alpha 4, corticostatin							93	90	91					8																	6794269		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794269G>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"Defensins, alpha"	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.153C>A	8.37:g.6794269G>T	ENSP00000297435:p.Ser51Arg						p.S51R	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	277	-			51					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.153C>A	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	0.745	-0.775024	0.02951	.	.	ENSG00000164821	ENST00000297435	T	0.32988	1.43	1.66	1.66	0.24008	Defensin propeptide (1);	0.817561	0.09937	N	0.736416	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.37091	0.241	T	0.09530	-1.0670	9	0.12103	T	0.63	.	6.8453	0.23984	0.0:0.0:1.0:0.0	.	51	P12838	DEF4_HUMAN	R	51	ENSP00000297435:S51R	ENSP00000297435:S51R	S	-	3	2	DEFA4	6781679	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.162000	0.10012	1.231000	0.43661	0.558000	0.71614	AGC		0.537	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		80	365	1	0	1.52223e-32	1	1.79814e-32	80	365					T	6794269	G	T	6794269	3	4	79	1	0	0	0	0	1	0	0	0	4402	962	34	3	148	3	DEFA4	8	6794269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10767	6794269	139569753	9152	19469											
SPAG11B	10407	broad.mit.edu	37	chr8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgagagcctcagtggctgAgtggttcacatgtctggctt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000297498.2	-	2	257	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000317900.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	31					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587																																						ENST00000317900.5																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(91-93)Tca>Cca		sperm associated antigen 11B							79	88	85					8																	7320352		2000	3962	5962	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7320352A>G	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.91T>C	8.37:g.7320352A>G	ENSP00000297498:p.Ser31Pro					SPAG11B_ENST00000297498.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P	p.S31P	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	2	261	-			31					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.91T>C	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805612	0.31961	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.48201	1.41;0.82;1.41	2.59	-3.59	0.04583	.	.	.	.	.	T	0.48572	0.1507	L	0.36672	1.1	0.09310	N	1	B;B;D;D;D	0.76494	0.001;0.002;0.985;0.981;0.999	B;B;D;D;D	0.83275	0.001;0.003;0.976;0.959;0.996	T	0.40572	-0.9556	9	0.35671	T	0.21	.	4.2386	0.10637	0.2287:0.4068:0.3645:0.0	.	31;31;31;31;31	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	P	14;31;31;31;31;31	ENSP00000437154:S14P;ENSP00000354411:S31P;ENSP00000297498:S31P	ENSP00000297498:S31P	S	-	1	0	SPAG11B	7307762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.747000	0.04759	0.378000	0.23410	TCA		0.587	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		47	454	0	0	0	1	0	47	454					G	7320352	A	G	7320352	3	3	79	1	0	0	0	0	1	0	0	0	15029	304	11	4	628	4	SPAG11B	8	7320352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526083	7320352	139043670	9153	19470											
SGK223	157285	broad.mit.edu	37	chr8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagagggccccgggctccGcagacgccaggtactggcag	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1391							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCGGGCTCCGCAGACGCCAG	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4159-4161)gCg>gTg									37	46	43					8																	8175725		2019	4175	6194	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175725G>A																												ENST00000520004.1:c.4160C>T	8.37:g.8175725G>A	ENSP00000428054:p.Ala1387Val					SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V	p.A1387V			Q86YV5	SG223_HUMAN			6	4424	-			1387					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4160C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	AC068353.1	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			91	361	0	0	0	1	0	91	361					A	8175725	G	A	8175725	3	1	79	1	0	0	0	0	1	0	0	0	14260	1087	38	1	52	1	SGK223	8	8175725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855373	8175725	138188297	9154	19471											
SGK223	157285	broad.mit.edu	37	chr8	8175943	8175943	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcacgcgcttggcctcgccGatgcggatacgcttgatggg	15	12	0	1	rs369760194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGCCTCGCCGATGCGGATAC	0.716																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3940-3942)atC>atA									25	28	27					8																	8175943		2041	4178	6219	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175943G>T																												ENST00000520004.1:c.3942C>A	8.37:g.8175943G>T						SGK223_ENST00000330777.4_Silent_p.I1314I	p.I1314I			Q86YV5	SG223_HUMAN			6	4206	-			1314			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3942C>A	CCDS43706.1																																																																																				0.716	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			72	315	1	0	1.1794e-34	1	1.40398e-34	72	315					T	8175943	G	T	8175943	2	4	79	1	0	0	0	0	0	0	0	1	14260	1048	37	3		3	SGK223	8	8175943	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218	8175943	138188079	9155	19472											
SGK223	157285	broad.mit.edu	37	chr8	8197103	8197103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctttctgcagagccctgGctcactttttccaaatcaga	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8197103G>A	ENST00000520004.1	-	4	2469	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	SGK223_ENST00000330777.4_Silent_p.S735S			Q86YV5	SG223_HUMAN		737							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGAGCCCTGGCTCACTTTTT	0.502																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2203-2205)agC>agT									79	87	85					8																	8197103		1965	4146	6111	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8197103G>A																												ENST00000520004.1:c.2205C>T	8.37:g.8197103G>A						SGK223_ENST00000330777.4_Silent_p.S735S	p.S735S			Q86YV5	SG223_HUMAN			4	2469	-			735					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.2205C>T	CCDS43706.1																																																																																				0.502	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	407	0	0	0	1	0	15	407					A	8197103	G	A	8197103	2	1	79	1	0	0	0	0	0	0	0	1	14260	1194	42	2		2	SGK223	8	8197103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21160	8197103	138166919	9156	19473											
MFHAS1	9258	broad.mit.edu	37	chr8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaggcaacatttactcGctcgctgccgttcttggggc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1023										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(3067-3069)Cga>Tga		malignant fibrous histiocytoma amplified sequence 1							124	94	104					8																	8654933		2203	4300	6503	SO:0001587	stop_gained	9258							g.chr8:8654933G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.3067C>T	8.37:g.8654933G>A	ENSP00000276282:p.Arg1023*					MFHAS1_ENST00000520091.1_5'UTR	p.R1023*	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	2	3653	-		Hepatocellular(245;0.217)	1023					Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	37	c.3067C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	47	13.657551	0.99755	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	3.86	0.44501	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.1014	0.65059	0.0:0.0:0.7402:0.2598	.	.	.	.	X	1023	.	ENSP00000276282:R1023X	R	-	1	2	MFHAS1	8692343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	0.705000	0.31890	0.551000	0.68910	CGA		0.572	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		37	177	0	0	0	1	0	37	177					A	8654933	G	A	8654933	4	1	79	1	0	0	0	0	0	1	0	0	9562	1095	38	1	99	1	MFHAS1	8	8654933	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457830	8654933	137709089	9157	19474											
ERI1	90459	broad.mit.edu	37	chr8	8875870	8875870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtaattgactggatgaaaTtgaaggaattaggaacaaag	11	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000519292.1_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	216	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CTGGATGAAATTGAAGGAATT	0.294																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(646-648)Ttg>Ctg		exoribonuclease 1	Adenosine monophosphate(DB00131)						53	56	55					8																	8875870		2203	4299	6502	SO:0001819	synonymous_variant	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8875870T>C	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.646T>C	8.37:g.8875870T>C						ERI1_ENST00000519292.1_Silent_p.L216L|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000520332.1_3'UTR	p.L216L			Q8IV48	ERI1_HUMAN			6	1325	+			216			Exonuclease.		A8K4U7|Q9NSX3	Silent	SNP	ENST00000523898.1	37	c.646T>C	CCDS5972.1																																																																																				0.294	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		46	152	0	0	0	1	0	46	152					C	8875870	T	C	8875870	2	2	79	1	0	0	0	0	0	0	0	1	5245	1490	52	4		4	ERI1	8	8875870	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220937	8875870	137488152	9158	19475											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998463	8998463	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagattttaactcagcccgGatgatcctatagttcttgcc	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	233	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(697-699)atC>atA		protein phosphatase 1, regulatory subunit 3B							195	185	188					8																	8998463		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998463G>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.699C>A	8.37:g.8998463G>T						PPP1R3B_ENST00000519699.1_Silent_p.I233I	p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	849	-			233			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.699C>A	CCDS5973.1																																																																																				0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	342	1	0	4.75426e-39	1	5.74315e-39	80	342					T	8998463	G	T	8998463	2	4	79	1	0	0	0	0	0	0	0	1	12419	1164	41	3		3	PPP1R3B	8	8998463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122593	8998463	137365559	9159	19476											
TNKS	8658	broad.mit.edu	37	chr8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgaagaaaaactaatgGctttactgactcctctaaat	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000310430.6	+	5	1083	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	353					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1057-1059)Gct>Act		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							88	95	92					8																	9538260		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9538260G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1057G>A	8.37:g.9538260G>A	ENSP00000311579:p.Ala353Thr					TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000518027.1_3'UTR	p.A353T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	5	1083	+			353					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1057G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998546	0.74818	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.21932	2.41;2.41;1.98	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.33485	1.01	0.80722	D	1	D;B	0.56035	0.974;0.008	P;B	0.62014	0.897;0.027	T	0.00832	-1.1548	10	0.26408	T	0.33	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	353;353	E7EWY6;O95271	.;TNKS1_HUMAN	T	353;353;116	ENSP00000428299:A353T;ENSP00000311579:A353T;ENSP00000429890:A116T	ENSP00000311579:A353T	A	+	1	0	TNKS	9575670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.081000	0.76844	2.747000	0.94245	0.585000	0.79938	GCT		0.299	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		60	313	0	0	0	1	0	60	313					A	9538260	G	A	9538260	3	1	79	1	0	0	0	0	1	0	0	0	16371	1203	42	2	1075	2	TNKS	8	9538260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539797	9538260	136825762	9160	19477											
TNKS	8658	broad.mit.edu	37	chr8	9605704	9605704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccaggaaggccagacGcctctggatctggcaacagt	12	11	2	2	rs376610791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000310430.6	+	18	2840	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_ENST00000518281.1_Silent_p.T701T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	938					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2812-2814)acG>acA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G		0,4406		0,0,2203	79	72	75		2814	-1.6	1	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNKS	NM_003747.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		938/1328	9605704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605704G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2814G>A	8.37:g.9605704G>A						TNKS_ENST00000518281.1_Silent_p.T701T	p.T938T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2840	+			938					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2814G>A	CCDS5974.1																																																																																				0.522	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		43	161	0	0	0	1	0	43	161					A	9605704	G	A	9605704	2	1	79	1	0	0	0	0	0	0	0	1	16371	1074	38	1		1	TNKS	8	9605704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67444	9605704	136758318	9161	19478											
TNKS	8658	broad.mit.edu	37	chr8	9623249	9623249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggagcggttctgccaccgAcagaaggaagtgtctgagga	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000310430.6	+	24	3521	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_ENST00000518281.1_Silent_p.R928R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1165	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3493-3495)cgA>cgG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							121	106	111					8																	9623249		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623249A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3495A>G	8.37:g.9623249A>G						TNKS_ENST00000518281.1_Silent_p.R928R	p.R1165R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	24	3521	+			1165			PARP catalytic.		O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.3495A>G	CCDS5974.1																																																																																				0.463	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		44	265	0	0	0	1	0	44	265					G	9623249	A	G	9623249	2	3	79	1	0	0	0	0	0	0	0	1	16371	262	10	4		4	TNKS	8	9623249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17545	9623249	136740773	9162	19479											
TNKS	8658	broad.mit.edu	37	chr8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcataaagggtttgatgagcGacatgcatacataggaggaa	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383																																						ENST00000310430.6																			2	Substitution - Missense(2)	p.R1200Q(2)	lung(2)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3598-3600)cGa>cAa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							105	104	104					8																	9623794		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623794G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3599G>A	8.37:g.9623794G>A	ENSP00000311579:p.Arg1200Gln					TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	p.R1200Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	25	3625	+			1200			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3599G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	TNKS	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA		0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		95	458	0	0	0	1	0	95	458					A	9623794	G	A	9623794	3	1	79	1	0	0	0	0	1	0	0	0	16371	1058	37	1	3697	1	TNKS	8	9623794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545	9623794	136740228	9163	19480											
TNKS	8658	broad.mit.edu	37	chr8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaatggcccacgcgcctCcagggcaccactcagtcatt	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000310430.6	+	26	3843	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1273	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3817-3819)Cca>Tca		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							72	66	68					8																	9627692		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9627692C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3817C>T	8.37:g.9627692C>T	ENSP00000311579:p.Pro1273Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	p.P1273S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	26	3843	+			1273			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3817C>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072626	0.76415	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.13657	2.57;2.57;2.59	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29181	-1.0020	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1273	O95271	TNKS1_HUMAN	S	1273;1036;18	ENSP00000311579:P1273S;ENSP00000429890:P1036S;ENSP00000428185:P18S	ENSP00000311579:P1273S	P	+	1	0	TNKS	9665102	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	7.768000	0.85345	2.595000	0.87683	0.655000	0.94253	CCA		0.453	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		55	242	0	0	0	1	0	55	242					T	9627692	C	T	9627692	3	4	79	1	0	0	0	0	1	0	0	0	16371	855	30	2	3919	2	TNKS	8	9627692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3898	9627692	136736330	9164	19481											
MSRA	4482	broad.mit.edu	37	chr8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaactcaagttggttttGcaggaggctatacttcaaat	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000317173.4	+	3	535	c.286G>A	c.(286-288)Gca>Aca	p.A96T	MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	96					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000528246.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(88-90)Gca>Aca		methionine sulfoxide reductase A	L-Methionine(DB00134)						103	107	106					8																	10102688		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10102688G>A	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.286G>A	8.37:g.10102688G>A	ENSP00000313921:p.Ala96Thr					MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000317173.4_Missense_Mutation_p.A96T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T	p.A30T	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN			4	711	+		Myeloproliferative disorder(644;0.178)	96					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.88G>A	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520417	0.85495	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.130128	0.53938	D	0.000051	T	0.66925	0.2839	L	0.46947	1.48	0.48395	D	0.999646	D;P;D	0.61697	0.99;0.955;0.977	D;P;P	0.65323	0.934;0.791;0.867	T	0.64166	-0.6471	8	.	.	.	-22.8028	13.3246	0.60452	0.0:0.0:0.842:0.158	.	53;53;96	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	T	96;96;30;30;30;53	.	.	A	+	1	0	MSRA	10140098	1.000000	0.71417	0.846000	0.33378	0.998000	0.95712	4.700000	0.61803	2.675000	0.91044	0.655000	0.94253	GCA		0.373	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		71	410	0	0	0	1	0	71	410					A	10102688	G	A	10102688	3	1	79	1	0	0	0	0	1	0	0	0	9928	1319	46	2	313	2	MSRA	8	10102688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474996	10102688	136261334	9165	19482											
PRSS55	203074	broad.mit.edu	37	chr8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacgggaactcagctcGgtccacggactcctctccca	10	16	3	0	rs200945105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000328655.3	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17168	0.001		0.0	False		,,,				2504	0.0					ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(55-57)Ggt>Agt		protease, serine, 55							80	66	71					8																	10383150		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383150G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.55G>A	8.37:g.10383150G>A	ENSP00000333003:p.Gly19Ser					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S	p.G19S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			1	95	+			19					E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.55G>A	CCDS5976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.148	0.025788	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.87887	-2.31;-2.29	3.39	0.607	0.17564	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.23275	0.045	T	0.60939	-0.7163	9	0.51188	T	0.08	.	6.7064	0.23252	0.1156:0.1717:0.7127:0.0	.	19	Q6UWB4	PRS55_HUMAN	S	19	ENSP00000333003:G19S;ENSP00000430459:G19S	ENSP00000333003:G19S	G	+	1	0	PRSS55	10420560	0.566000	0.26618	0.024000	0.17045	0.000000	0.00434	0.525000	0.22956	0.103000	0.17682	-2.793000	0.00115	GGT		0.677	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		52	206	0	0	0	1	0	52	206					A	10383150	G	A	10383150	3	1	79	1	0	0	0	0	1	0	0	0	12681	1116	39	1	57	1	PRSS55	8	10383150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280462	10383150	135980872	9166	19483											
RP1L1	94137	broad.mit.edu	37	chr8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgccccaagaggatgCtctggaggaggaagggcctg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2383	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		CAAGAGGATGCTCTGGAGGAG	0.607																																						ENST00000382483.3																			0				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						c.(6907-6909)Gca>Tca		retinitis pigmentosa 1-like 1							187	190	189					8																	10464701		1950	4147	6097	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464701C>A	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.6907G>T	8.37:g.10464701C>A	ENSP00000371923:p.Ala2303Ser						p.A2303S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7130	-			2303					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6907G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707590	0.15239	.	.	ENSG00000183638	ENST00000382483	T	0.08370	3.1	4.01	-8.02	0.01118	.	3.056560	0.01886	N	0.038208	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.32161	-0.9917	10	0.25106	T	0.35	5.0784	2.6649	0.05041	0.1944:0.4196:0.2104:0.1756	.	2303	A6NKC6	.	S	2303	ENSP00000371923:A2303S	ENSP00000371923:A2303S	A	-	1	0	RP1L1	10502111	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.444000	0.02403	-2.037000	0.00920	-0.431000	0.05894	GCA		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			281	1228	1	0	6.90656e-69	1	8.76043e-69	281	1228					A	10464701	C	A	10464701	3	1	79	1	0	0	0	0	1	0	0	0	13583	797	28	3	299	3	RP1L1	8	10464701	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81551	10464701	135899321	9167	19484											
RP1L1	94137	broad.mit.edu	37	chr8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacatcttctgactctggCtgggcctccccttctgcctc	7	17	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2074	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		CTGACTCTGGCTGGGCCTCCC	0.602																																						ENST00000382483.3																			0				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						c.(5980-5982)caG>caT		retinitis pigmentosa 1-like 1							173	189	184					8																	10465626		1981	4157	6138	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465626C>A	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.5982G>T	8.37:g.10465626C>A	ENSP00000371923:p.Gln1994His						p.Q1994H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6205	-			1994					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5982G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.483	0.649002	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	1.24	0.21308	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.50570	0.644	T	0.38134	-0.9675	9	0.56958	D	0.05	.	5.0404	0.14456	0.0:0.7812:0.0:0.2188	.	1994	A6NKC6	.	H	1994	ENSP00000371923:Q1994H	ENSP00000371923:Q1994H	Q	-	3	2	RP1L1	10503036	0.059000	0.20769	0.136000	0.22124	0.274000	0.26718	0.878000	0.28126	0.535000	0.28714	0.305000	0.20034	CAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			340	1490	1	0	1.6594e-83	1	2.12483e-83	340	1490					A	10465626	C	A	10465626	3	1	79	1	0	0	0	0	1	0	0	0	13583	796	28	3	1224	3	RP1L1	8	10465626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	925	10465626	135898396	9168	19485											
C8orf74	203076	broad.mit.edu	37	chr8	10557846	10557846	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattcgccatcttggacctGaagcttcagaagaagactct	8	11	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(748-750)ctG>ctT		chromosome 8 open reading frame 74							88	94	92					8																	10557846		2001	4174	6175	SO:0001819	synonymous_variant	203076							g.chr8:10557846G>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.750G>T	8.37:g.10557846G>T						RP1L1_ENST00000329335.3_Intron	p.L250L	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	779	+			250					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.750G>T	CCDS47800.1																																																																																				0.607	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		69	373	1	0	8.50881e-52	1	1.05702e-51	69	373					T	10557846	G	T	10557846	2	4	79	1	0	0	0	0	0	0	0	1	2443	1277	45	3		3	C8orf74	8	10557846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92220	10557846	135806176	9169	19486											
SOX7	83595	broad.mit.edu	37	chr8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaaatactggtcgaatTcattgcgatccatgtccccc	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000554914.1_Missense_Mutation_p.E383G|SOX7_ENST00000553390.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	331	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGTCGAATTCATTGCGATC	0.627																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(991-993)gAa>gGa		SRY (sex determining region Y)-box 7							95	85	89					8																	10583423		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583423T>C	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.992A>G	8.37:g.10583423T>C	ENSP00000301921:p.Glu331Gly					SOX7_ENST00000553390.1_Missense_Mutation_p.E383G|SOX7_ENST00000554914.1_Missense_Mutation_p.E383G	p.E331G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1070	-			331			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.992A>G	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280179	0.80692	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.89875	-2.58;-2.58;-2.58	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.94676	0.8283	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95429	0.8514	10	0.87932	D	0	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	383;331	B4DKV0;Q9BT81	.;SOX7_HUMAN	G	331;383;383	ENSP00000301921:E331G;ENSP00000452017:E383G;ENSP00000451145:E383G	ENSP00000346908:E383G	E	-	2	0	SOX7;CTD-2135J3.4	10620833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	GAA		0.627	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			51	236	0	0	0	1	0	51	236					C	10583423	T	C	10583423	3	2	79	1	0	0	0	0	1	0	0	0	15006	1783	62	4	178	4	SOX7	8	10583423	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25577	10583423	135780599	9170	19487											
XKR6	286046	broad.mit.edu	37	chr8	10755726	10755726	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaagcaagtgtcagccgtGagatcctcctgttgttccgt	12	11	1	1	rs183318725		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	554						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16685	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1660-1662)ctC>ctT		XK, Kell blood group complex subunit-related family, member 6							57	45	49					8																	10755726		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755726G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1662C>T	8.37:g.10755726G>A						XKR6_ENST00000304437.2_Silent_p.L275L	p.L554L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1688	-			554					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1662C>T	CCDS5978.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.635	-0.074829	0.07184	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-7.9244	10.5583	0.45131	0.0878:0.0:0.9122:0.0	.	.	.	.	L	331	.	.	S	-	2	0	XKR6	10793136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.479000	0.83701	0.561000	0.74099	TCA		0.612	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		40	182	0	0	0	1	0	40	182					A	10755726	G	A	10755726	2	1	79	1	0	0	0	0	0	0	0	1	17489	1277	45	2		2	XKR6	8	10755726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172303	10755726	135608296	9171	19488											
XKR6	286046	broad.mit.edu	37	chr8	10756176	10756176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgcagaagtctgttccGccatggatgatccagaaggc	12	10	1	3	rs139763869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	404						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20851	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1210-1212)ggC>ggT		XK, Kell blood group complex subunit-related family, member 6							94	87	89					8																	10756176		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10756176G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1212C>T	8.37:g.10756176G>A						XKR6_ENST00000304437.2_Silent_p.G125G	p.G404G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1238	-			404					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1212C>T	CCDS5978.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.745	-0.052838	0.07362	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	1.98	0.26296	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-0.0538	8.8542	0.35219	0.3603:0.0:0.6397:0.0	.	.	.	.	V	181	.	.	A	-	2	0	XKR6	10793586	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	0.590000	0.29694	0.561000	0.74099	GCG		0.507	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		42	147	0	0	0	1	0	42	147					A	10756176	G	A	10756176	2	1	79	1	0	0	0	0	0	0	0	1	17489	1074	38	1		1	XKR6	8	10756176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450	10756176	135607846	9172	19489											
MTMR9	66036	broad.mit.edu	37	chr8	11157552	11157552	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtctactctggactcCatcactctgatgtacccttt	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000221086.3	+	3	785	c.312C>A	c.(310-312)tcC>tcA	p.S104S	MTMR9_ENST00000526292.1_Silent_p.S19S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	104						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTCTGGACTCCATCACTCTGA	0.383																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(310-312)tcC>tcA		myotubularin related protein 9							186	175	179					8																	11157552		2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11157552C>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.312C>A	8.37:g.11157552C>A						MTMR9_ENST00000526292.1_Silent_p.S19S	p.S104S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	3	785	+			104					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.312C>A	CCDS5979.1																																																																																				0.383	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		33	845	1	0	1.06647e-15	1	1.16694e-15	33	845					A	11157552	C	A	11157552	2	1	79	1	0	0	0	0	0	0	0	1	9991	581	21	3		3	MTMR9	8	11157552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401376	11157552	135206470	9173	19490											
MTMR9	66036	broad.mit.edu	37	chr8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattatcctcagtggaggCgaattcataagtccattgag	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000221086.3	+	5	1260	c.787C>T	c.(787-789)Cga>Tga	p.R263*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	263	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCAGTGGAGGCGAATTCATAA	0.433																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(787-789)Cga>Tga		myotubularin related protein 9							81	66	71					8																	11163894		2203	4300	6503	SO:0001587	stop_gained	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163894C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.787C>T	8.37:g.11163894C>T	ENSP00000221086:p.Arg263*					MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	p.R263*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1260	+			263			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	37	c.787C>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287206	0.98189	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.67	4.78	0.61160	.	0.046380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.4248	0.61020	0.3:0.7:0.0:0.0	.	.	.	.	X	263;178	.	ENSP00000221086:R263X	R	+	1	2	MTMR9	11201304	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.521000	0.35910	1.362000	0.46000	0.557000	0.71058	CGA		0.433	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		9	225	0	0	0	1	0	9	225					T	11163894	C	T	11163894	4	4	79	1	0	0	0	0	0	1	0	0	9991	760	27	1	805	1	MTMR9	8	11163894	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	11163894	135200128	9174	19491											
MTMR9	66036	broad.mit.edu	37	chr8	11180276	11180276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaactggaaacagaggaCgggatgcaggagagtccctg	16	8	0	3	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000221086.3	+	10	2102	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_ENST00000526292.1_Silent_p.D458D|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	543						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0					ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(1627-1629)gaC>gaT		myotubularin related protein 9		C		2,4404	4.2+/-10.8	0,2,2201	78	75	76		1629	-6	0	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	MTMR9	NM_015458.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		543/550	11180276	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11180276C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1629C>T	8.37:g.11180276C>T						MTMR9_ENST00000526292.1_Silent_p.D458D|AF131216.6_ENST00000498997.2_RNA	p.D543D	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	10	2102	+			543					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.1629C>T	CCDS5979.1																																																																																				0.463	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		49	249	0	0	0	1	0	49	249					T	11180276	C	T	11180276	2	4	79	1	0	0	0	0	0	0	0	1	9991	535	19	1		1	MTMR9	8	11180276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16382	11180276	135183746	9175	19492											
GATA4	2626	broad.mit.edu	37	chr8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagtagatatgtttgacGacttctcagaaggcagagag	11	7	2	4	rs377673676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(628-630)Gac>Aac		GATA binding protein 4		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	138	137	138		628	5.1	1	8		138	0,8600		0,0,4300	no	missense	GATA4	NM_002052.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	210/443	11606439	1,13005	2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606439G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.628G>A	8.37:g.11606439G>A	ENSP00000334458:p.Asp210Asn					GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	p.D210N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1186	+	all_epithelial(15;0.0839)		210					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.628G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337542	0.81911	2.27E-4	0.0	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.98996	-5.31;-5.15;-4.74;-4.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.69654	0.965;0.703	D	0.99731	1.1012	10	0.62326	D	0.03	0.139	18.0083	0.89216	0.0:0.0:1.0:0.0	.	211;210	B7ZKZ4;P43694	.;GATA4_HUMAN	N	4;4;210;209;211	ENSP00000435043:D4N;ENSP00000435347:D4N;ENSP00000334458:D210N;ENSP00000435712:D211N	ENSP00000259090:D209N	D	+	1	0	GATA4	11643848	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	9.302000	0.96175	2.793000	0.96121	0.655000	0.94253	GAC		0.517	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		143	652	0	0	0	1	0	143	652					A	11606439	G	A	11606439	3	1	79	1	0	0	0	0	1	0	0	0	6284	1058	37	1	634	1	GATA4	8	11606439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426163	11606439	134757583	9176	19493											
NEIL2	252969	broad.mit.edu	37	chr8	11643740	11643740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgcccgcagtgccaGccccagttgtcagaggagcc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	319					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CGCAGTGCCAGCCCCAGTTGT	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(955-957)caG>caA	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							21	20	21					8																	11643740		2195	4290	6485	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11643740G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.957G>A	8.37:g.11643740G>A						NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q	p.Q319Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	5	1556	+	all_epithelial(15;0.103)		319					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.957G>A	CCDS5984.1																																																																																				0.602	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		8	180	0	0	0	1	0	8	180					A	11643740	G	A	11643740	2	1	79	1	0	0	0	0	0	0	0	1	10361	962	34	2		2	NEIL2	8	11643740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37301	11643740	134720282	9177	19494											
FDFT1	2222	broad.mit.edu	37	chr8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggccaccccgaagagttCtacaacctggtgcgcttccg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000220584.4	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000528812.1_5'Flank|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|RP11-297N6.4_ENST00000533405.1_5'Flank	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	13					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGAAGAGTTCTACAACCTGG	0.682																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(37-39)ttC>ttA		farnesyl-diphosphate farnesyltransferase 1							47	39	42					8																	11660380		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11660380C>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.39C>A	8.37:g.11660380C>A	ENSP00000220584:p.Phe13Leu					FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron	p.F13L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	1	261	+	all_epithelial(15;0.234)		13					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.39C>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896273	0.52121	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.35236	1.32;1.89;1.86;1.87	5.04	4.17	0.49024	.	0.183845	0.45867	D	0.000328	T	0.17323	0.0416	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09378	-1.0677	10	0.02654	T	1	-27.1942	8.0589	0.30621	0.1569:0.7621:0.0:0.081	.	13;13;13	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	L	13	ENSP00000431852:F13L;ENSP00000220584:F13L;ENSP00000390367:F13L;ENSP00000434714:F13L	ENSP00000220584:F13L	F	+	3	2	FDFT1	11697789	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.312000	0.19397	1.266000	0.44231	0.485000	0.47835	TTC		0.682	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			25	71	1	0	2.27525e-19	1	2.53767e-19	25	71					A	11660380	C	A	11660380	3	1	79	1	0	0	0	0	1	0	0	0	5827	912	32	3	41	3	FDFT1	8	11660380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16640	11660380	134703642	9178	19495											
FDFT1	2222	broad.mit.edu	37	chr8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagaaggatcgccagGtgctggaggacttcccaacg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000220584.4	+	3	583	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	121					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATCGCCAGGTGCTGGAGGA	0.507																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(361-363)Gtg>Atg		farnesyl-diphosphate farnesyltransferase 1							89	70	77					8																	11667339		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11667339G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.361G>A	8.37:g.11667339G>A	ENSP00000220584:p.Val121Met					FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M	p.V121M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	3	583	+	all_epithelial(15;0.234)		121					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.361G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826881	0.90955	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;D;T;T;T;T;T	0.82255	-0.99;-0.99;-0.99;-1.59;-0.99;-0.99;-0.99;-0.99;-0.99	4.71	4.71	0.59529	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.995;0.995	D	0.92624	0.6110	10	0.72032	D	0.01	-34.0136	17.1687	0.86822	0.0:0.0:1.0:0.0	.	121;178;114;121	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	M	10;121;121;121;114;57;57;36;36	ENSP00000444248:V10M;ENSP00000431852:V121M;ENSP00000220584:V121M;ENSP00000390367:V121M;ENSP00000434714:V114M;ENSP00000431749:V57M;ENSP00000432331:V57M;ENSP00000431649:V36M;ENSP00000436069:V36M	ENSP00000220584:V121M	V	+	1	0	FDFT1	11704748	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.302000	0.96175	2.602000	0.87976	0.491000	0.48974	GTG		0.507	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			37	167	0	0	0	1	0	37	167					A	11667339	G	A	11667339	3	1	79	1	0	0	0	0	1	0	0	0	5827	1261	44	2	371	2	FDFT1	8	11667339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6959	11667339	134696683	9179	19496											
FDFT1	2222	broad.mit.edu	37	chr8	11687884	11687884	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtcatcacctacctttcGagactcagaaaccagagtgt	8	11	3	3	rs150271048	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000220584.4	+	6	1056	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528643.1_Silent_p.S193S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	278					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCTACCTTTCGAGACTCAGAA	0.502													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		19056	0.0		0.0	False		,,,				2504	0.0					ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(832-834)tcG>tcA		farnesyl-diphosphate farnesyltransferase 1		G		2,4404	4.2+/-10.8	0,2,2201	175	152	160		834	-11.3	0	8	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	FDFT1	NM_004462.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		278/418	11687884	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11687884G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.834G>A	8.37:g.11687884G>A						FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000538689.1_Silent_p.S167S	p.S278S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	6	1056	+	all_epithelial(15;0.234)		278					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.834G>A	CCDS5985.1																																																																																				0.502	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			101	413	0	0	0	1	0	101	413					A	11687884	G	A	11687884	2	1	79	1	0	0	0	0	0	0	0	1	5827	1045	37	1		1	FDFT1	8	11687884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20545	11687884	134676138	9180	19497											
CTSB	1508	broad.mit.edu	37	chr8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacacctccacgctgacgtGcgcattggtgtggatgcaga	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	128					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACGCTGACGTGCGCATTGGTG	0.647																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(382-384)Cac>Tac		cathepsin B							63	49	54					8																	11706619		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11706619G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.382C>T	8.37:g.11706619G>A	ENSP00000345672:p.His128Tyr					CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y	p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	5	635	-	all_epithelial(15;0.205)		128					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.382C>T	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236222	0.39498	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.54	0.945	0.19543	Peptidase C1A, papain C-terminal (2);	0.753217	0.12991	N	0.422495	T	0.78805	0.4341	N	0.17631	0.505	0.20307	N	0.999912	B	0.02656	0.0	B	0.04013	0.001	T	0.68096	-0.5499	10	0.87932	D	0	.	13.8957	0.63770	0.0:0.0:0.3848:0.6152	.	128	P07858	CATB_HUMAN	Y	128;128;128;128;128;128;128;128;34;128;128;128;128;128;128;128	ENSP00000415889:H128Y;ENSP00000345672:H128Y;ENSP00000435105:H128Y;ENSP00000433215:H128Y;ENSP00000409917:H128Y;ENSP00000342070:H128Y;ENSP00000432244:H128Y;ENSP00000434217:H128Y;ENSP00000436159:H128Y;ENSP00000433995:H128Y;ENSP00000435074:H128Y;ENSP00000436627:H128Y;ENSP00000434725:H128Y;ENSP00000436122:H128Y;ENSP00000431518:H128Y	ENSP00000342070:H128Y	H	-	1	0	CTSB	11744028	0.678000	0.27586	0.000000	0.03702	0.893000	0.52053	1.123000	0.31308	0.206000	0.20587	0.462000	0.41574	CAC		0.647	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		38	159	0	0	0	1	0	38	159					A	11706619	G	A	11706619	3	1	79	1	0	0	0	0	1	0	0	0	4041	1319	46	2	661	2	CTSB	8	11706619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18735	11706619	134657403	9181	19498											
USP17L2	377630	broad.mit.edu	37	chr8	11994753	11994753	+	Missense_Mutation	SNP	G	G	A													tggtcctcccttgcagagaaGcgagggtgccagtgttcacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	ENST00000333796.3	-	1	1833	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCC	0.542																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1516-1518)gCt>gTt		ubiquitin specific peptidase 17-like family member 2							69	79	76					8																	11994753		1436	2999	4435	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994753G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1517C>T	8.37:g.11994753G>A	ENSP00000333329:p.Ala506Val					FAM66D_ENST00000434078.2_RNA	p.A506V	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1833	-			506						Missense_Mutation	SNP	ENST00000333796.3	37	c.1517C>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	1.052	-0.675426	0.03378	.	.	ENSG00000223443	ENST00000333796	T	0.12147	2.71	0.418	0.418	0.16429	.	3.924260	0.01239	U	0.008577	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.28332	-1.0047	9	0.40728	T	0.16	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	V	506	ENSP00000333329:A506V	ENSP00000333329:A506V	A	-	2	0	USP17L2	12032162	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	0.527000	0.22987	0.476000	0.27440	0.479000	0.44913	GCT		0.542	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		65	452	0	0	0	1	0	65	452					A	11994753	G	A	11994753	3	1	79	1	0	0	0	0	1	0	0	0	17102	971	34	2	79	2	USP17L2	8	11994753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288134	11994753	134369269	9182	19499	120	2									
USP17L2	377630	broad.mit.edu	37	chr8	11994754	11994754	+	Missense_Mutation	SNP	C	C	T													ggtcctcccttgcagagaagCgagggtgccagtgttcacgg					rs371735438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	ENST00000333796.3	-	1	1832	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCAGAGAAGCGAGGGTGCCA	0.547																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1516-1518)Gct>Act		ubiquitin specific peptidase 17-like family member 2							69	79	76					8																	11994754		1431	3000	4431	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994754C>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1516G>A	8.37:g.11994754C>T	ENSP00000333329:p.Ala506Thr					FAM66D_ENST00000434078.2_RNA	p.A506T	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1832	-			506						Missense_Mutation	SNP	ENST00000333796.3	37	c.1516G>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324057	0.01309	.	.	ENSG00000223443	ENST00000333796	T	0.11930	2.73	0.418	-0.836	0.10770	.	3.924260	0.01239	U	0.008577	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24548	-1.0157	9	0.24483	T	0.36	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	T	506	ENSP00000333329:A506T	ENSP00000333329:A506T	A	-	1	0	USP17L2	12032163	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-1.537000	0.02206	-2.082000	0.00868	-2.139000	0.00339	GCT		0.547	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		20	496	0	0	0	1	0	20	496					T	11994754	C	T	11994754	3	4	79	1	0	0	0	0	1	0	0	0	17102	768	27	1	80	1	USP17L2	8	11994754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	11994754	134369268	9183	19500	120	2									
USP17L2	377630	broad.mit.edu	37	chr8	11995139	11995139	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactgtgtctttcccaTtcactcttctggatgtaaaa	5	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	ENST00000333796.3	-	1	1447	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	377					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTCTTTCCCATTCACTCTTCT	0.517																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1129-1131)gaA>gaT		ubiquitin specific peptidase 17-like family member 2							20	21	21					8																	11995139		1310	3201	4511	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995139T>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1131A>T	8.37:g.11995139T>A	ENSP00000333329:p.Glu377Asp					FAM66D_ENST00000434078.2_RNA	p.E377D	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1447	-			377						Missense_Mutation	SNP	ENST00000333796.3	37	c.1131A>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.898574	0.00517	.	.	ENSG00000223443	ENST00000333796	T	0.41758	0.99	0.771	-0.576	0.11731	Hyaluronan/mRNA-binding protein (1);	1.202600	0.06564	N	0.747271	T	0.16557	0.0398	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.23226	-1.0194	10	0.02654	T	1	.	4.0396	0.09745	0.0:0.2652:0.0:0.7348	.	377	Q6R6M4	U17L2_HUMAN	D	377	ENSP00000333329:E377D	ENSP00000333329:E377D	E	-	3	2	USP17L2	12032548	0.522000	0.26266	0.016000	0.15963	0.079000	0.17450	1.039000	0.30266	-0.150000	0.11195	0.240000	0.17902	GAA		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		45	322	0	0	0	1	0	45	322					A	11995139	T	A	11995139	3	1	79	1	0	0	0	0	1	0	0	0	17102	1490	52	5	465	5	USP17L2	8	11995139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	385	11995139	134368883	9184	19501											
USP17L2	377630	broad.mit.edu	37	chr8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgccctctggagacaaAgaccgcaatgataggcattc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	256	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(766-768)cTt>cCt		ubiquitin specific peptidase 17-like family member 2							16	20	19					8																	11995503		1016	2394	3410	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995503A>G	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.767T>C	8.37:g.11995503A>G	ENSP00000333329:p.Leu256Pro					FAM66D_ENST00000434078.2_RNA	p.L256P	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1083	-			256						Missense_Mutation	SNP	ENST00000333796.3	37	c.767T>C	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	0.881	-0.728608	0.03135	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.392720	0.01228	N	0.008280	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	0.999999	B	0.14438	0.01	B	0.20184	0.028	T	0.37979	-0.9682	10	0.49607	T	0.09	.	2.5944	0.04850	0.2721:0.3019:0.426:0.0	.	256	Q6R6M4	U17L2_HUMAN	P	256	ENSP00000333329:L256P	ENSP00000333329:L256P	L	-	2	0	USP17L2	12032912	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-1.429000	0.01987	-1.661000	0.00750	CTT		0.512	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		42	418	0	0	0	1	0	42	418					G	11995503	A	G	11995503	3	3	79	1	0	0	0	0	1	0	0	0	17102	72	3	4	829	4	USP17L2	8	11995503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364	11995503	134368519	9185	19502											
USP17L2	377630	broad.mit.edu	37	chr8	11995994	11995994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcactgcagggaagcGttctcgtagcaggtatttcc	13	10	2	0	rs369199590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	ENST00000333796.3	-	1	592	c.276C>T	c.(274-276)aaC>aaT	p.N92N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	92	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGGAAGCGTTCTCGTAGC	0.572																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(274-276)aaC>aaT		ubiquitin specific peptidase 17-like family member 2		G		0,2896		0,0,1448	35	43	40		276	-0.3	0	8		40	2,5828		1,0,2914	no	coding-synonymous	USP17L2	NM_201402.2		1,0,4362	AA,AG,GG		0.0343,0.0,0.0229		92/531	11995994	2,8724	1448	2915	4363	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995994G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.276C>T	8.37:g.11995994G>A						FAM66D_ENST00000434078.2_RNA	p.N92N	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	592	-			92						Silent	SNP	ENST00000333796.3	37	c.276C>T	CCDS43713.1																																																																																				0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		37	693	0	0	0	1	0	37	693					A	11995994	G	A	11995994	2	1	79	1	0	0	0	0	0	0	0	1	17102	1136	40	1		1	USP17L2	8	11995994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	11995994	134368028	9186	19503											
FAM86B2	653333	broad.mit.edu	37	chr8	12287880	12287880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaatagctccggtggccCtgggtggactccttggccat	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12287880C>A	ENST00000262365.4	-	4	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	107										endometrium(1)|kidney(2)	3						TCCGGTGGCCCTGGGTGGACT	0.592																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(319-321)caG>caT		family with sequence similarity 86, member B2							27	26	26					8																	12287880		692	1589	2281	SO:0001583	missense	653333							g.chr8:12287880C>A		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.321G>T	8.37:g.12287880C>A	ENSP00000262365:p.Gln107His					FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	p.Q107H	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	320	-			107						Missense_Mutation	SNP	ENST00000262365.4	37	c.321G>T	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	0.128	-1.116874	0.01799	.	.	ENSG00000145002	ENST00000262365	T	0.03468	3.92	1.16	-2.32	0.06745	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	0.43971	D	0.996651	B	0.06786	0.001	B	0.06405	0.002	T	0.56456	-0.7976	9	0.15499	T	0.54	.	4.5254	0.11980	0.208:0.4212:0.3708:0.0	.	107	P0C5J1	F86B2_HUMAN	H	107	ENSP00000262365:Q107H	ENSP00000262365:Q107H	Q	-	3	2	FAM86B2	12332251	0.002000	0.14202	0.127000	0.21898	0.008000	0.06430	-1.516000	0.02250	-2.625000	0.00437	-1.604000	0.00809	CAG		0.592	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		13	197	1	0	3.32936e-07	1	3.45006e-07	13	197					A	12287880	C	A	12287880	3	1	79	1	0	0	0	0	1	0	0	0	5670	680	24	3	691	3	FAM86B2	8	12287880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291886	12287880	134076142	9187	19504											
LONRF1	91694	broad.mit.edu	37	chr8	12598479	12598479	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaaaaaaccagcatcgcaGagtacttttcctttcctgaa	5	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12598479G>A	ENST00000398246.3	-	3	936	c.867C>T	c.(865-867)ctC>ctT	p.L289L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	289							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CAGCATCGCAGAGTACTTTTC	0.338																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(865-867)ctC>ctT		LON peptidase N-terminal domain and ring finger 1							175	177	176					8																	12598479		1824	4080	5904	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12598479G>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.867C>T	8.37:g.12598479G>A						LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.L289L	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	3	936	-			289					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.867C>T	CCDS5987.2																																																																																				0.338	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		19	872	0	0	0	1	0	19	872					A	12598479	G	A	12598479	2	1	79	1	0	0	0	0	0	0	0	1	8932	929	33	2		2	LONRF1	8	12598479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310599	12598479	133765543	9188	19505											
DLC1	10395	broad.mit.edu	37	chr8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgttctttaagtaggcGctttaagatttcctctggca	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1384	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4150-4152)Cgc>Tgc		deleted in liver cancer 1							131	136	135					8																	12946138		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946138G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4150C>T	8.37:g.12946138G>A	ENSP00000276297:p.Arg1384Cys					DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C	p.R1384C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			16	4559	-			1384			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4150C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	DLC1	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		113	529	0	0	0	1	0	113	529					A	12946138	G	A	12946138	3	1	79	1	0	0	0	0	1	0	0	0	4566	1087	38	1	448	1	DLC1	8	12946138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347659	12946138	133417884	9189	19506											
DLC1	10395	broad.mit.edu	37	chr8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccactgattgactatccGctgcatccccttcacgtggt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	918					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGACTATCCGCTGCATCCCC	0.562																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2752-2754)Cgg>Tgg		deleted in liver cancer 1							85	76	79					8																	12957094		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957094G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2752C>T	8.37:g.12957094G>A	ENSP00000276297:p.Arg918Trp					DLC1_ENST00000512044.2_Missense_Mutation_p.R515W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000520226.1_Missense_Mutation_p.R407W	p.R918W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3161	-			918					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2752C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751750	0.69533	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06849	3.48;3.25;3.25;3.26	5.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.64687	0.928;0.834;0.903	T	0.00507	-1.1699	10	0.87932	D	0	.	12.3702	0.55250	0.0:0.0:0.4075:0.5925	.	918;515;481	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	W	918;481;515;407	ENSP00000276297:R918W;ENSP00000351797:R481W;ENSP00000422595:R515W;ENSP00000428028:R407W	ENSP00000276297:R918W	R	-	1	2	DLC1	13001465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.539000	0.53604	0.584000	0.29591	0.655000	0.94253	CGG		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		22	252	0	0	0	1	0	22	252					A	12957094	G	A	12957094	3	1	79	1	0	0	0	0	1	0	0	0	4566	1086	38	1	1874	1	DLC1	8	12957094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10956	12957094	133406928	9190	19507											
DLC1	10395	broad.mit.edu	37	chr8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgggagctcttgagcTtcaggctctccatccgtttc	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	675					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGAGCTTCAGGCTCTC	0.547																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2023-2025)aAg>aGg		deleted in liver cancer 1							120	110	114					8																	12957822		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957822T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2024A>G	8.37:g.12957822T>C	ENSP00000276297:p.Lys675Arg					DLC1_ENST00000512044.2_Missense_Mutation_p.K272R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000520226.1_Missense_Mutation_p.K164R	p.K675R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2433	-			675					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2024A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	5.192	0.221034	0.09863	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04156	3.89;3.69;3.69;3.74	4.84	4.84	0.62591	.	0.053786	0.64402	D	0.000001	T	0.02533	0.0077	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.23540	0.087;0.004;0.025	B;B;B	0.20184	0.014;0.006;0.028	T	0.44190	-0.9344	10	0.07030	T	0.85	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	675;272;238	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	675;238;272;164	ENSP00000276297:K675R;ENSP00000351797:K238R;ENSP00000422595:K272R;ENSP00000428028:K164R	ENSP00000276297:K675R	K	-	2	0	DLC1	13002193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.344000	0.44010	2.168000	0.68352	0.533000	0.62120	AAG		0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		146	614	0	0	0	1	0	146	614					C	12957822	T	C	12957822	3	2	79	1	0	0	0	0	1	0	0	0	4566	1609	56	4	2602	4	DLC1	8	12957822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	728	12957822	133406200	9191	19508											
DLC1	10395	broad.mit.edu	37	chr8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctggacagttccttggGagagggcaggctgccgaaag	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	643					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTTCCTTGGGAGAGGGCAGG	0.572																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1927-1929)Ccc>Tcc		deleted in liver cancer 1							91	87	89					8																	12957919		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957919G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1927C>T	8.37:g.12957919G>A	ENSP00000276297:p.Pro643Ser					DLC1_ENST00000512044.2_Missense_Mutation_p.P240S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000520226.1_Missense_Mutation_p.P132S	p.P643S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2336	-			643					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1927C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753415	0.69648	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07567	3.48;3.28;3.27;3.18	4.89	4.89	0.63831	.	0.108634	0.64402	D	0.000005	T	0.26810	0.0656	L	0.56769	1.78	0.80722	D	1	D;B;D	0.71674	0.97;0.127;0.998	P;B;D	0.77557	0.664;0.041;0.99	T	0.00290	-1.1843	10	0.52906	T	0.07	.	18.6244	0.91332	0.0:0.0:1.0:0.0	.	643;240;206	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	643;206;240;132	ENSP00000276297:P643S;ENSP00000351797:P206S;ENSP00000422595:P240S;ENSP00000428028:P132S	ENSP00000276297:P643S	P	-	1	0	DLC1	13002290	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.657000	0.83745	2.699000	0.92147	0.655000	0.94253	CCC		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		127	602	0	0	0	1	0	127	602					A	12957919	G	A	12957919	3	1	79	1	0	0	0	0	1	0	0	0	4566	1174	41	2	2699	2	DLC1	8	12957919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	12957919	133406103	9192	19509											
DLC1	10395	broad.mit.edu	37	chr8	12968258	12968258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtgtccatttacctgcataGagcctcaatggcatctctgt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	499	SAM.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACCTGCATAGAGCCTCAATG	0.358																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1495-1497)Cta>Tta		deleted in liver cancer 1							167	162	164					8																	12968258		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12968258G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1495C>T	8.37:g.12968258G>A						DLC1_ENST00000512044.2_Silent_p.L96L|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000520226.1_5'UTR	p.L499L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			7	1904	-			499			SAM.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1495C>T	CCDS5989.1																																																																																				0.358	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		126	518	0	0	0	1	0	126	518					A	12968258	G	A	12968258	2	1	79	1	0	0	0	0	0	0	0	1	4566	933	33	2		2	DLC1	8	12968258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10339	12968258	133395764	9193	19510											
MSR1	4481	broad.mit.edu	37	chr8	16026093	16026093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctattgcattcccatgTccctggactgaggaaaacaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000262101.5	-	4	625	c.504A>G	c.(502-504)ggA>ggG	p.G168G	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	168					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378																																						ENST00000350896.3																			1	Substitution - coding silent(1)	p.G168G(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(502-504)ggA>ggG		macrophage scavenger receptor 1							180	167	171					8																	16026093		2203	4300	6503	SO:0001819	synonymous_variant	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026093T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.504A>G	8.37:g.16026093T>C						MSR1_ENST00000445506.2_Silent_p.G186G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000262101.5_Silent_p.G168G|MSR1_ENST00000536385.1_Intron	p.G168G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	701	-			168					D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.504A>G	CCDS5995.1																																																																																				0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			77	352	0	0	0	1	0	77	352					C	16026093	T	C	16026093	2	2	79	1	0	0	0	0	0	0	0	1	9927	1654	58	4		4	MSR1	8	16026093	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3057835	16026093	130337929	9194	19511											
MSR1	4481	broad.mit.edu	37	chr8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttatatcatttgcattaGttgaactaactgagcaattc	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000262101.5	-	4	384	c.263C>T	c.(262-264)aCt>aTt	p.T88I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	88	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(262-264)aCt>aTt		macrophage scavenger receptor 1							163	152	156					8																	16026334		2203	4300	6503	SO:0001583	missense	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026334G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.263C>T	8.37:g.16026334G>A	ENSP00000262101:p.Thr88Ile					MSR1_ENST00000445506.2_Missense_Mutation_p.T106I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000262101.5_Missense_Mutation_p.T88I|MSR1_ENST00000536385.1_Intron	p.T88I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	460	-			88			Spacer (Probable).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.263C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332970	0.01298	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.89681	-0.59;-1.97;-0.59;-0.59;-2.55	4.44	-6.07	0.02158	.	1.747220	0.02794	N	0.122370	T	0.72614	0.3482	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.64002	-0.6509	10	0.24483	T	0.36	.	9.7211	0.40304	0.2402:0.1439:0.6159:0.0	.	106;88;88;88	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	88;88;106;88;88	ENSP00000262100:T88I;ENSP00000262101:T88I;ENSP00000405453:T106I;ENSP00000347430:T88I;ENSP00000371428:T88I	ENSP00000262101:T88I	T	-	2	0	MSR1	16070705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.113000	0.02981	-0.355000	0.07637	ACT		0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			98	420	0	0	0	1	0	98	420					A	16026334	G	A	16026334	3	1	79	1	0	0	0	0	1	0	0	0	9927	1029	36	2	1168	2	MSR1	8	16026334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	16026334	130337688	9195	19512											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccctagccatccgataCtgtgacagatgccaacttat	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	128					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(382-384)taC>taA		zinc finger, DHHC-type containing 2							146	143	144					8																	17055101		1913	4141	6054	SO:0001587	stop_gained	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055101C>A	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.384C>A	8.37:g.17055101C>A	ENSP00000262096:p.Tyr128*						p.Y128*	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	5	1079	+			128					D3DSP5	Nonsense_Mutation	SNP	ENST00000262096.8	37	c.384C>A	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685509	0.68157	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	.	.	.	4.3	-3.91	0.04168	.	0.278379	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	0.0:0.7656:0.0:0.2344	.	.	.	.	X	128;83	.	ENSP00000262096:Y128X	Y	+	3	2	ZDHHC2	17099472	0.978000	0.34361	0.966000	0.40874	0.907000	0.53573	0.176000	0.16782	-0.577000	0.05967	-0.691000	0.03719	TAC		0.368	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		116	496	1	0	4.89831e-52	1	6.08832e-52	116	496					A	17055101	C	A	17055101	4	1	79	1	0	0	0	0	0	1	0	0	17663	576	20	3	402	3	ZDHHC2	8	17055101	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028767	17055101	129308921	9196	19513											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055914	17055914	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgaagatggatcatcaTtgtccatggtgagttggctg	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(466-468)caT>caC		zinc finger, DHHC-type containing 2							159	144	148					8																	17055914		1824	4085	5909	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055914T>C	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.468T>C	8.37:g.17055914T>C							p.H156H	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	6	1163	+			156					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.468T>C	CCDS47810.1																																																																																				0.259	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		22	122	0	0	0	1	0	22	122					C	17055914	T	C	17055914	2	2	79	1	0	0	0	0	0	0	0	1	17663	1490	52	4		4	ZDHHC2	8	17055914	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	813	17055914	129308108	9197	19514											
VPS37A	137492	broad.mit.edu	37	chr8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaccaatacgacatcacTtaatggataaacaaggagtg	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	90					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACGACATCACTTAATGGATAA	0.343																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(268-270)Tta>Gta		vacuolar protein sorting 37 homolog A (S. cerevisiae)							122	115	117					8																	17125834		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17125834T>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.268T>G	8.37:g.17125834T>G	ENSP00000318629:p.Leu90Val					VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	p.L90V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	3	942	+			90					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.268T>G	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319355	0.60524	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56941	0.43;0.43	4.8	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	L	0.60455	1.87	0.46725	D	0.999173	D;D	0.71674	0.998;0.997	D;D	0.78314	0.941;0.991	T	0.61402	-0.7070	10	0.42905	T	0.14	-11.377	8.205	0.31449	0.0:0.2322:0.0:0.7678	.	65;90	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	V	90;90;101;65	ENSP00000318629:L90V;ENSP00000429680:L65V	ENSP00000318173:L90V	L	+	1	2	VPS37A	17170205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.858000	0.48356	0.935000	0.37341	0.533000	0.62120	TTA		0.343	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		52	279	0	0	0	1	0	52	279					G	17125834	T	G	17125834	3	3	79	1	0	0	0	0	1	0	0	0	17259	1606	56	4	278	4	VPS37A	8	17125834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69920	17125834	129238188	9198	19515											
VPS37A	137492	broad.mit.edu	37	chr8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggttttccatttcttcctCcatatcctccacaagaagca	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	160					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATTTCTTCCTCCATATCCTCC	0.403																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(478-480)Cca>Tca		vacuolar protein sorting 37 homolog A (S. cerevisiae)							100	86	91					8																	17132303		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17132303C>T		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.478C>T	8.37:g.17132303C>T	ENSP00000318629:p.Pro160Ser					VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	p.P160S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	5	1152	+			160					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.478C>T	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.086205|2.086205	0.36855|0.36855	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.56611|.	0.45;0.5|.	4.25|4.25	0.217|0.217	0.15264|0.15264	.|.	0.637270|.	0.16206|.	N|.	0.224693|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.15975|0.15975	0.35|0.35	0.24058|0.24058	N|N	0.996027|0.996027	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|6	0.16896|0.87932	T|D	0.51|0	-1.0447|-1.0447	7.02|7.02	0.24908|0.24908	0.0:0.6541:0.1255:0.2204|0.0:0.6541:0.1255:0.2204	.|.	135;160|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|F	160;135|169	ENSP00000318629:P160S;ENSP00000429680:P135S|.	ENSP00000318629:P160S|ENSP00000318173:S169F	P|S	+|+	1|2	0|0	VPS37A|VPS37A	17176674|17176674	0.965000|0.965000	0.33210|0.33210	0.797000|0.797000	0.32132|0.32132	0.721000|0.721000	0.41392|0.41392	-0.000000|-0.000000	0.12993|0.12993	0.028000|0.028000	0.15324|0.15324	0.579000|0.579000	0.79373|0.79373	CCA|TCC		0.403	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		59	279	0	0	0	1	0	59	279					T	17132303	C	T	17132303	3	4	79	1	0	0	0	0	1	0	0	0	17259	855	30	2	496	2	VPS37A	8	17132303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6469	17132303	129231719	9199	19516											
VPS37A	137492	broad.mit.edu	37	chr8	17132334	17132334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaagcaaacaggagtaTcacttctttatctgttgctg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324849.4	+	5	1183	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*|VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	170					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AACAGGAGTATCACTTCTTTA	0.438																																						ENST00000324815.3																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(535-537)taT>taG		vacuolar protein sorting 37 homolog A (S. cerevisiae)							125	106	112					8																	17132334		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17132334T>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.509T>G	8.37:g.17132334T>G	ENSP00000318629:p.Ile170Ser					VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S|VPS37A_ENST00000324849.4_Missense_Mutation_p.I170S	p.Y179*			Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	6	890	+			52					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Nonsense_Mutation	SNP	ENST00000324849.4	37	c.537T>G	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.959567|2.959567	0.53400|0.53400	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.54279|.	0.58;0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	1.238420|.	0.05339|.	N|.	0.529836|.	T|.	0.24084|.	0.0583|.	N|N	0.14661|0.14661	0.345|0.345	0.21256|0.21256	N|N	0.999748|0.999748	B;B|.	0.19200|.	0.034;0.006|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.08146|.	-1.0736|.	10|.	0.07644|0.02654	T|T	0.81|1	-2.6082|-2.6082	12.9954|12.9954	0.58644|0.58644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	145;170|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|X	170;145|179	ENSP00000318629:I170S;ENSP00000429680:I145S|.	ENSP00000318629:I170S|ENSP00000318173:Y179X	I|Y	+|+	2|3	0|2	VPS37A|VPS37A	17176705|17176705	0.959000|0.959000	0.32827|0.32827	0.050000|0.050000	0.19076|0.19076	0.793000|0.793000	0.44817|0.44817	2.537000|2.537000	0.45702|0.45702	2.154000|2.154000	0.67381|0.67381	0.472000|0.472000	0.43445|0.43445	ATC|TAT		0.438	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		73	316	0	0	0	1	0	73	316					G	17132334	T	G	17132334	3	3	79	1	0	0	0	0	1	0	0	0	17259	1435	50	4	527	4	VPS37A	8	17132334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31	17132334	129231688	9200	19517											
MTMR7	9108	broad.mit.edu	37	chr8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcagggagatgtacacgtCgtggcaatctctttcctgag	11	9	2	2	rs527918462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	92					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.D92N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATGTACACGTCGTGGCAATCT	0.463																																						ENST00000180173.5																			1	Substitution - Missense(1)	p.D92N(1)	skin(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(274-276)Gac>Aac		myotubularin related protein 7							144	131	135					8																	17228582		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17228582C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.274G>A	8.37:g.17228582C>T	ENSP00000180173:p.Asp92Asn					MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	3	308	-			92					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.274G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542767	0.45280	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.82526	-1.62;-1.62	5.23	5.23	0.72850	.	0.092239	0.64402	N	0.000001	T	0.78997	0.4372	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.72554	-0.4258	10	0.25106	T	0.35	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	92	Q9Y216	MTMR7_HUMAN	N	92	ENSP00000180173:D92N;ENSP00000429733:D92N	ENSP00000180173:D92N	D	-	1	0	MTMR7	17272953	1.000000	0.71417	0.280000	0.24747	0.455000	0.32408	4.592000	0.61027	2.602000	0.87976	0.655000	0.94253	GAC		0.463	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		30	405	0	0	0	1	0	30	405					T	17228582	C	T	17228582	3	4	79	1	0	0	0	0	1	0	0	0	9989	884	31	1	1756	1	MTMR7	8	17228582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96248	17228582	129135440	9201	19518											
SLC7A2	6542	broad.mit.edu	37	chr8	17396407	17396407	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggaacacctgccccacCggtttgcgacagcaagtttc	9	13	0	0	rs530793445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17396407C>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000470360.1_Missense_Mutation_p.P25L|SLC7A2_ENST00000522656.1_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCCCCACCGGTTTGCGAC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17517	0.0		0.0	False		,,,				2504	0.0					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(73-75)cCg>cTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						103	93	96					8																	17396407		1845	4088	5933	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396407C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4420C>T	8.37:g.17396407C>T						SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L	p.P25L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	191	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.74C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	c	1.728	-0.494862	0.04322	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88354	-2.37;-2.23;-2.37	3.09	-6.17	0.02091	.	.	.	.	.	T	0.81128	0.4758	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63216	-0.6687	8	0.72032	D	0.01	.	8.2694	0.31836	0.0:0.2783:0.1131:0.6086	.	25;25	P52569-3;P52569-2	.;.	L	25	ENSP00000419873:P25L;ENSP00000004531:P25L;ENSP00000381164:P25L	ENSP00000004531:P25L	P	+	2	0	SLC7A2	17440786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.672000	0.05244	-2.514000	0.00502	-3.196000	0.00055	CCG		0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		74	333	0	0	0	1	0	74	333					T	17396407	C	T	17396407	1	4	79	0	1	0	0	0	0	0	0	0	14747	652	23	1		1	SLC7A2	8	17396407	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167825	17396407	128967615	9202	19519											
SLC7A2	6542	broad.mit.edu	37	chr8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcttatccagacaacgTtcatgcagcagcagaagaaa	9	9	1	4	rs181290750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000494857.1	+	13	2092	c.1874T>G	c.(1873-1875)gTt>gGt	p.V625G	SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000470360.1_Missense_Mutation_p.V664G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	625					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		21406	0.001		0.0	False		,,,				2504	0.0					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1990-1992)gTt>gGt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						112	95	101					8																	17422552		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17422552T>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1874T>G	8.37:g.17422552T>G	ENSP00000419140:p.Val625Gly					SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000494857.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G	p.V664G			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	14	2108	+			625					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1991T>G	CCDS34852.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.597	-0.830718	0.02734	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88354	-2.19;-2.19;-2.37;-2.22;-2.37	5.11	-0.393	0.12438	.	1.923250	0.01901	N	0.039188	T	0.79125	0.4393	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.004	B;B;B	0.19666	0.001;0.026;0.005	T	0.65278	-0.6207	10	0.23302	T	0.38	.	5.3749	0.16160	0.0:0.1784:0.4299:0.3916	.	665;664;625	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	G	625;625;664;665;664	ENSP00000419140:V625G;ENSP00000430464:V625G;ENSP00000419873:V664G;ENSP00000004531:V665G;ENSP00000381164:V664G	ENSP00000004531:V665G	V	+	2	0	SLC7A2	17466826	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.558000	0.05978	0.123000	0.18342	-0.263000	0.10527	GTT		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	172	0	0	0	1	0	35	172					G	17422552	T	G	17422552	3	3	79	1	0	0	0	0	1	0	0	0	14747	1725	60	4	2181	4	SLC7A2	8	17422552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26145	17422552	128941470	9203	19520											
MTUS1	57509	broad.mit.edu	37	chr8	17611250	17611250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagagaaccatattcaaaAgtctcattcataatctcttg	4	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000262102.6	-	2	2291	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381869.3_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	689					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATATTCAAAAGTCTCATTCA	0.328																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2065-2067)acT>acC		microtubule associated tumor suppressor 1							111	93	99					8																	17611250		1814	4072	5886	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611250A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2067T>C	8.37:g.17611250A>G						MTUS1_ENST00000262102.6_Silent_p.T689T|MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T	p.T689T	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2540	-			689					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2067T>C	CCDS43717.1																																																																																				0.328	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		32	174	0	0	0	1	0	32	174					G	17611250	A	G	17611250	2	3	79	1	0	0	0	0	0	0	0	1	10006	59	3	4		4	MTUS1	8	17611250	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188698	17611250	128752772	9204	19521											
MTUS1	57509	broad.mit.edu	37	chr8	17612546	17612546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgatttccaatatctgaAacaaaaacctcactttgcat	3	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000262102.6	-	2	995	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	257					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAATATCTGAAACAAAAACCT	0.413																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(769-771)gtT>gtC		microtubule associated tumor suppressor 1							193	174	180					8																	17612546		1943	4147	6090	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612546A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.771T>C	8.37:g.17612546A>G						MTUS1_ENST00000262102.6_Silent_p.V257V|MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V	p.V257V	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1244	-			257					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.771T>C	CCDS43717.1																																																																																				0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		123	616	0	0	0	1	0	123	616					G	17612546	A	G	17612546	2	3	79	1	0	0	0	0	0	0	0	1	10006	1	1	4		4	MTUS1	8	17612546	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	17612546	128751476	9205	19522											
FGL1	2267	broad.mit.edu	37	chr8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgtgctgaatttcatTctttggtgactagcccacca	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1	231	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(691-693)agA>agC		fibrinogen-like 1							156	143	148					8																	17726143		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726143T>G	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.693A>C	8.37:g.17726143T>G	ENSP00000381133:p.Arg231Ser					FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S	p.R231S			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	9	1508	-			231			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.693A>C	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573112	0.45902	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.57	-1.8	0.07907	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.146424	0.64402	D	0.000012	T	0.09949	0.0244	N	0.11724	0.165	0.30491	N	0.771345	B;B;B	0.29212	0.237;0.166;0.016	B;B;B	0.34590	0.186;0.096;0.011	T	0.12502	-1.0545	10	0.44086	T	0.13	.	5.089	0.14698	0.1293:0.3438:0.0:0.5269	.	201;231;231	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	S	231;231;201;231;231;231;231;231;231	ENSP00000381133:R231S;ENSP00000429757:R231S;ENSP00000371263:R231S;ENSP00000401952:R231S;ENSP00000381131:R231S;ENSP00000371262:R231S;ENSP00000428430:R231S	ENSP00000221204:R231S	R	-	3	2	FGL1	17770423	0.994000	0.37717	0.946000	0.38457	0.905000	0.53344	0.305000	0.19254	-0.369000	0.08028	0.477000	0.44152	AGA		0.453	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		137	608	0	0	0	1	0	137	608					G	17726143	T	G	17726143	3	3	79	1	0	0	0	0	1	0	0	0	5897	1780	62	4	253	4	FGL1	8	17726143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113597	17726143	128637879	9206	19523											
PCM1	5108	broad.mit.edu	37	chr8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctaacactgaagctActgaagaaaatgaacatgat	8	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000519253.1	+	34	5712	c.5461A>G	c.(5461-5463)Act>Gct	p.T1821A	PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A			Q15154	PCM1_HUMAN	pericentriolar material 1	1829					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CACTGAAGCTACTGAAGAAAA	0.393			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5485-5487)Act>Gct		pericentriolar material 1							132	134	133					8																	17869310		1920	4127	6047	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17869310A>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5461A>G	8.37:g.17869310A>G	ENSP00000431099:p.Thr1821Ala					PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000519253.1_Missense_Mutation_p.T1821A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A	p.T1829A	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	34	5924	+			1829					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5485A>G		.	.	.	.	.	.	.	.	.	.	A	7.488	0.649995	0.14516	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.32	1.26	0.21427	.	0.627807	0.17034	N	0.189614	T	0.27967	0.0689	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.003;0.002;0.001;0.004;0.002	T	0.18840	-1.0324	10	0.18276	T	0.48	-2.9531	5.6939	0.17845	0.4667:0.1901:0.3432:0.0	.	1821;1829;628;1821;1774;1775;1829	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	A	1829;1821;1775;528	ENSP00000327077:T1829A;ENSP00000431099:T1821A;ENSP00000430521:T1775A;ENSP00000328332:T528A	ENSP00000327077:T1829A	T	+	1	0	PCM1	17913590	0.000000	0.05858	0.864000	0.33941	0.897000	0.52465	-0.088000	0.11198	0.415000	0.25817	0.533000	0.62120	ACT		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		36	172	0	0	0	1	0	36	172					G	17869310	A	G	17869310	3	3	79	1	0	0	0	0	1	0	0	0	11626	391	14	4	5611	4	PCM1	8	17869310	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	143167	17869310	128494712	9207	19524											
PCM1	5108	broad.mit.edu	37	chr8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaaccctttgccgttacGtttacctgaaatggaaccct	7	13	0	1	rs565494296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000519253.1	+	36	5947	c.5696G>A	c.(5695-5697)cGt>cAt	p.R1899H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTGCCGTTACGTTTACCTGAA	0.438			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5719-5721)cGt>cAt		pericentriolar material 1							92	86	88					8																	17872228		1885	4111	5996	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17872228G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5696G>A	8.37:g.17872228G>A	ENSP00000431099:p.Arg1899His					PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1899H|PCM1_ENST00000524226.1_Intron	p.R1907H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	36	6159	+			1907					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5720G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840949|2.840949	0.51057|0.51057	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.17370|.	3.66;3.66;2.28|.	4.65|4.65	3.78|3.78	0.43462|0.43462	.|.	0.385114|.	0.28946|.	N|.	0.013636|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.03608|0.03608	-0.345|-0.345	0.20074|0.20074	N|N	0.999939|0.999939	P;P;B;P;P;P|.	0.45126|.	0.851;0.851;0.226;0.851;0.799;0.851|.	B;B;B;B;B;B|.	0.40534|.	0.332;0.332;0.004;0.332;0.121;0.332|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.72032|.	D|.	0.01|.	-6.3064|-6.3064	14.2484|14.2484	0.66004|0.66004	0.0:0.849:0.151:0.0|0.0:0.849:0.151:0.0	.|.	1899;1907;706;1899;1852;1907|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	H|I	1907;1899;606|647	ENSP00000327077:R1907H;ENSP00000431099:R1899H;ENSP00000328332:R606H|.	ENSP00000327077:R1907H|.	R|V	+|+	2|1	0|0	PCM1|PCM1	17916508|17916508	0.996000|0.996000	0.38824|0.38824	0.965000|0.965000	0.40720|0.40720	0.839000|0.839000	0.47603|0.47603	1.811000|1.811000	0.38942|0.38942	1.576000|1.576000	0.49790|0.49790	-0.234000|-0.234000	0.12200|0.12200	CGT|GTT		0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		10	133	0	0	0	1	0	10	133					A	17872228	G	A	17872228	3	1	79	1	0	0	0	0	1	0	0	0	11626	1145	40	1	5854	1	PCM1	8	17872228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2918	17872228	128491794	9208	19525											
PCM1	5108	broad.mit.edu	37	chr8	17883088	17883088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatggtagaagaagaacaGaaaaaccatttatctggtga	9	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17883088G>T	ENST00000519253.1	+	38	6197	c.5946G>T	c.(5944-5946)caG>caT	p.Q1982H	PCM1_ENST00000325083.8_Missense_Mutation_p.Q1990H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H			Q15154	PCM1_HUMAN	pericentriolar material 1	1990	Interaction with BBS4.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGAAGAACAGAAAAACCATT	0.289			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5968-5970)caG>caT		pericentriolar material 1							42	39	40					8																	17883088		1810	4057	5867	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17883088G>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5946G>T	8.37:g.17883088G>T	ENSP00000431099:p.Gln1982His					PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q1982H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H	p.Q1990H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	38	6409	+			1990			Interaction with BBS4.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5970G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115436|3.115436	0.56505|0.56505	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.24350|.	3.23;3.23;2.94;1.86|.	5.42|5.42	3.59|3.59	0.41128|0.41128	.|.	0.286130|.	0.39909|.	N|.	0.001223|.	T|T	0.54334|0.54334	0.1852|0.1852	L|L	0.50333|0.50333	1.59|1.59	0.48901|0.48901	D|D	0.999721|0.999721	P;P;P;P;B;B;P|.	0.40875|.	0.731;0.731;0.731;0.731;0.003;0.001;0.731|.	B;B;B;B;B;B;B|.	0.40228|.	0.256;0.256;0.323;0.256;0.01;0.006;0.256|.	T|T	0.48340|0.48340	-0.9044|-0.9044	10|5	0.72032|.	D|.	0.01|.	-1.1301|-1.1301	5.4438|5.4438	0.16523|0.16523	0.2254:0.0:0.6288:0.1458|0.2254:0.0:0.6288:0.1458	.|.	1982;1990;789;1982;1935;1826;1990|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1990;1982;1826;689|730	ENSP00000327077:Q1990H;ENSP00000431099:Q1982H;ENSP00000430521:Q1826H;ENSP00000328332:Q689H|.	ENSP00000327077:Q1990H|.	Q|R	+|+	3|2	2|0	PCM1|PCM1	17927368|17927368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.981000|1.981000	0.40628|0.40628	0.754000|0.754000	0.32968|0.32968	-0.233000|-0.233000	0.12211|0.12211	CAG|AGA		0.289	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		8	47	1	0	0.000157383	1	0.000159814	8	47					T	17883088	G	T	17883088	3	4	79	1	0	0	0	0	1	0	0	0	11626	933	33	3	6112	3	PCM1	8	17883088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10860	17883088	128480934	9209	19526											
ASAH1	427	broad.mit.edu	37	chr8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgattcctttctgtctcGtgtaatcacacaaccttccc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*|ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	296					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(886-888)Cga>Tga		N-acylsphingosine amidohydrolase (acid ceramidase) 1							157	155	156					8																	17917112		2203	4300	6503	SO:0001587	stop_gained	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17917112G>A	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.886C>T	8.37:g.17917112G>A	ENSP00000262097:p.Arg296*					ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*	p.R296*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	11	1197	-			296					E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP	ENST00000262097.6	37	c.886C>T	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373901	0.97515	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.11	3.25	0.37280	.	0.097792	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4388	13.7377	0.62829	0.0:0.0:0.6919:0.3081	.	.	.	.	X	296;312;271;206;290	.	ENSP00000262097:R296X	R	-	1	2	ASAH1	17961392	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.721000	0.61951	0.799000	0.34018	0.655000	0.94253	CGA		0.388	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		97	521	0	0	0	1	0	97	521					A	17917112	G	A	17917112	4	1	79	1	0	0	0	0	0	1	0	0	1007	1153	40	1	317	1	ASAH1	8	17917112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34024	17917112	128446910	9210	19527											
NAT2	10	broad.mit.edu	37	chr8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatttataaccacaTcattttgttccttgcagacc	3	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TATAACCACATCATTTTGTTC	0.368									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(661-663)Tca>Gca		N-acetyltransferase 2 (arylamine N-acetyltransferase)							83	87	85					8																	18258174		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258174T>G	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.661T>G	8.37:g.18258174T>G	ENSP00000286479:p.Ser221Ala					NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	p.S221A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	768	+			221					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.661T>G	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033049	0.19590	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01767	4.65;4.65	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.91972	3.26	0.23747	N	0.996957	D	0.76494	0.999	D	0.81914	0.995	T	0.02275	-1.1184	10	0.62326	D	0.03	.	7.2032	0.25893	0.0:0.0:0.0:1.0	.	221	A4Z6T7	.	A	221;91	ENSP00000286479:S221A;ENSP00000428416:S91A	ENSP00000286479:S221A	S	+	1	0	NAT2	18302454	1.000000	0.71417	0.020000	0.16555	0.098000	0.18820	3.553000	0.53713	1.462000	0.47948	0.358000	0.22013	TCA		0.368	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		87	401	0	0	0	1	0	87	401					G	18258174	T	G	18258174	3	3	79	1	0	0	0	0	1	0	0	0	10218	1435	50	4	663	4	NAT2	8	18258174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341062	18258174	128105848	9211	19528											
PSD3	23362	broad.mit.edu	37	chr8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttaatgcgctgttgtatCattggagtgaggggcatttc	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000327040.8	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000440756.2_Missense_Mutation_p.M481I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	481					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGTTGTATCATTGGAGTGA	0.458																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1441-1443)atG>atA		pleckstrin and Sec7 domain containing 3							201	195	197					8																	18725375		2030	4185	6215	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725375C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1443G>A	8.37:g.18725375C>T	ENSP00000324127:p.Met481Ile					PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000327040.8_Missense_Mutation_p.M481I	p.M481I			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1545	-			481					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1443G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416430	0.62511	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.32530	0.975	0.42160	D	0.991596	B	0.29716	0.255	B	0.27608	0.081	T	0.09684	-1.0663	10	0.45353	T	0.12	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	481	E9KL50	.	I	481;481;416	ENSP00000324127:M481I;ENSP00000401704:M481I;ENSP00000430640:M416I	ENSP00000324127:M481I	M	-	3	0	PSD3	18769655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	ATG		0.458	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		146	582	0	0	0	1	0	146	582					T	18725375	C	T	18725375	3	4	79	1	0	0	0	0	1	0	0	0	12695	826	29	2	1788	2	PSD3	8	18725375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	467201	18725375	127638647	9212	19529											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19315993	19315993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgctagaggcacgatAacattgataagcgtgttggc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(793-795)gtT>gtC		chondroitin sulfate N-acetylgalactosaminyltransferase 1							379	351	361					8																	19315993		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19315993A>G	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.795T>C	8.37:g.19315993A>G						CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000311540.4_Silent_p.V265V	p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1808	-			265					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.795T>C	CCDS6010.1																																																																																				0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		305	1389	0	0	0	1	0	305	1389					G	19315993	A	G	19315993	2	3	79	1	0	0	0	0	0	0	0	1	3949	349	13	4		4	CSGALNACT1	8	19315993	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	590618	19315993	127048029	9213	19530											
INTS10	55174	broad.mit.edu	37	chr8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcagccaaggcgtgGctgatcacggcccgcagcct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	28					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(82-84)tgG>tgA		integrator complex subunit 10							16	23	20					8																	19675132		2060	4210	6270	SO:0001587	stop_gained	55174				snRNA processing	integrator complex	protein binding	g.chr8:19675132G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.84G>A	8.37:g.19675132G>A	ENSP00000381064:p.Trp28*					INTS10_ENST00000521758.1_3'UTR	p.W28*	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	1	482	+			28					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Nonsense_Mutation	SNP	ENST00000397977.3	37	c.84G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	42	9.770182	0.99259	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2863	17.7262	0.88366	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000381064:W28X	W	+	3	0	INTS10	19719412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.541000	0.90644	2.598000	0.87819	0.563000	0.77884	TGG		0.682	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		6	64	0	0	0	1	0	6	64					A	19675132	G	A	19675132	4	1	79	1	0	0	0	0	0	1	0	0	7806	1212	42	2	86	2	INTS10	8	19675132	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359139	19675132	126688890	9214	19531											
INTS10	55174	broad.mit.edu	37	chr8	19681555	19681555	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatggataaaggaagacGgtaataaatagcttatttcc	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	279					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.e7+1		integrator complex subunit 10							113	107	109					8																	19681555		1855	4089	5944	SO:0001630	splice_region_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19681555G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.836+1G>A	8.37:g.19681555G>A							p.R279_splice	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	7	1234	+			279					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Splice_Site	SNP	ENST00000397977.3	37	c.836_splice	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876160	0.91664	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73388	-0.3998	9	0.51188	T	0.08	-10.739	18.5013	0.90882	0.0:0.0:1.0:0.0	.	279	Q9NVR2	INT10_HUMAN	Q	279	.	ENSP00000381064:R279Q	R	+	2	0	INTS10	19725835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.717000	0.92951	0.650000	0.86243	CGA		0.353	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	Missense_Mutation	81	382	0	0	0	1	0	81	382					A	19681555	G	A	19681555	5	1	79	1	0	0	0	0	0	0	1	0	7806	1130	39	1	862	1	INTS10	8	19681555	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6423	19681555	126682467	9215	19532											
INTS10	55174	broad.mit.edu	37	chr8	19682423	19682423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggtgtattccaccatgCtggtcttctttaagaatgca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	316					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(946-948)Ctg>Ttg		integrator complex subunit 10							101	93	96					8																	19682423		1886	4104	5990	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682423C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.946C>T	8.37:g.19682423C>T							p.L316L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1344	+			316					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.946C>T	CCDS6011.2																																																																																				0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		62	278	0	0	0	1	0	62	278					T	19682423	C	T	19682423	2	4	79	1	0	0	0	0	0	0	0	1	7806	796	28	2		2	INTS10	8	19682423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	868	19682423	126681599	9216	19533											
INTS10	55174	broad.mit.edu	37	chr8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacttggctttggttaagaAtcttcctcactgatatgatc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	450					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1348-1350)Atc>Ctc		integrator complex subunit 10							147	138	141					8																	19689592		1930	4124	6054	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19689592A>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1348A>C	8.37:g.19689592A>C	ENSP00000381064:p.Ile450Leu						p.I450L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	11	1746	+			450					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1348A>C	CCDS6011.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.59|12.59|12.59	1.982892|1.982892|1.982892	0.34942|0.34942|0.34942	.|.|.	.|.|.	ENSG00000104613|ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977|ENST00000518799	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	.|0.046970|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.58481|0.58481|0.58481	0.2125|0.2125|0.2125	L|L|L	0.38531|0.38531|0.38531	1.155|1.155|1.155	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.12156|.	.|0.007|.	T|T|T	0.55055|0.55055|0.55055	-0.8200|-0.8200|-0.8200	5|9|5	.|0.40728|.	.|T|.	.|0.16|.	-25.6753|-25.6753|-25.6753	14.9937|14.9937|14.9937	0.71412|0.71412|0.71412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|450|.	.|Q9NVR2|.	.|INT10_HUMAN|.	D|L|T	225|450|32	.|.|.	.|ENSP00000381064:I450L|.	E|I|N	+|+|+	3|1|2	2|0|0	INTS10|INTS10|INTS10	19733872|19733872|19733872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.036000|7.036000|7.036000	0.76524|0.76524|0.76524	2.221000|2.221000|2.221000	0.72209|0.72209|0.72209	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|ATC|AAT		0.378	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		26	284	0	0	0	1	0	26	284					C	19689592	A	C	19689592	3	2	79	1	0	0	0	0	1	0	0	0	7806	101	4	4	1390	4	INTS10	8	19689592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7169	19689592	126674430	9217	19534											
LPL	4023	broad.mit.edu	37	chr8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagagattttatcgacatcGaaagtaaatttgccctaagg	9	6	0	1	rs557015233	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TATCGACATCGAAAGTAAATT	0.418													G|||	4	0.000798722	0.0	0.0	5008	,	,		19664	0.0		0.0	False		,,,				2504	0.0041					ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(112-114)Gaa>Aaa		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						119	115	117					8																	19805714		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805714G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.112G>A	8.37:g.19805714G>A	ENSP00000309757:p.Glu38Lys					LPL_ENST00000521994.1_3'UTR	p.E38K	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	582	+			38					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.112G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503993	0.44558	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90732	-2.72;-2.72;-2.72	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.149727	0.64402	D	0.000018	D	0.84597	0.5507	L	0.35542	1.07	0.34686	D	0.725273	P	0.41848	0.763	B	0.35413	0.202	D	0.86747	0.1958	8	.	.	.	-33.3413	16.6495	0.85185	0.0:0.0:1.0:0.0	.	38	P06858	LIPL_HUMAN	K	38;38;38;24	ENSP00000428237:E38K;ENSP00000428557:E38K;ENSP00000309757:E38K	.	E	+	1	0	LPL	19849994	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	5.307000	0.65762	2.599000	0.87857	0.655000	0.94253	GAA		0.418	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			118	569	0	0	0	1	0	118	569					A	19805714	G	A	19805714	3	1	79	1	0	0	0	0	1	0	0	0	8959	1059	37	1	118	1	LPL	8	19805714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116122	19805714	126558308	9218	19535											
LPL	4023	broad.mit.edu	37	chr8	19816893	19816893	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacatcccattcactctgTgagtagcacaggggggcggt	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ATTCACTCTGTGAGTAGCACA	0.522																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e7+2		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						69	63	65					8																	19816893		2203	4300	6503	SO:0001630	splice_region_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19816893T>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1139+2T>C	8.37:g.19816893T>C								NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	1609	+								B2R5T9|Q16282|Q16283|Q96FC4	Splice_Site	SNP	ENST00000311322.8	37		CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672395	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5139	0.50509	0.0:0.0:0.1504:0.8496	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19861173	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	1.048000	0.40298	0.523000	0.50628	.		0.522	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		Intron	41	152	0	0	0	1	0	41	152					C	19816893	T	C	19816893	5	2	79	1	0	0	0	0	0	0	1	0	8959	1710	59	4	1167	4	LPL	8	19816893	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11179	19816893	126547129	9219	19536											
ATP6V1B2	526	broad.mit.edu	37	chr8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatcttctctgctgctgGgctaccacacaatgaggtga	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	196					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TCTGCTGCTGGGCTACCACAC	0.448																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(586-588)gGg>gAg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							103	93	96					8																	20068811		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20068811G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.587G>A	8.37:g.20068811G>A	ENSP00000276390:p.Gly196Glu						p.G196E	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	6	627	+			196					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.587G>A	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283492|5.283492	0.95489|0.95489	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.85088|.	-1.94|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91219|.	0.7233|.	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.94242|.	0.7486|.	10|.	0.87932|.	D|.	0|.	-36.7028|-36.7028	18.6584|18.6584	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	P21281|.	VATB2_HUMAN|.	E|X	196;70|185	ENSP00000276390:G196E|.	ENSP00000276390:G196E|.	G|W	+|+	2|3	0|0	ATP6V1B2|ATP6V1B2	20113091|20113091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.808000|9.808000	0.99193|0.99193	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.448	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		25	241	0	0	0	1	0	25	241					A	20068811	G	A	20068811	3	1	79	1	0	0	0	0	1	0	0	0	1180	1232	43	2	609	2	ATP6V1B2	8	20068811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251918	20068811	126295211	9220	19537											
ATP6V1B2	526	broad.mit.edu	37	chr8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagaggtacctggtcgacGaggttttccaggttacatgt	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	321					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCTGGTCGACGAGGTTTTCCA	0.463																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(961-963)cGa>cAa		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							136	120	125					8																	20072363		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20072363G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.962G>A	8.37:g.20072363G>A	ENSP00000276390:p.Arg321Gln						p.R321Q	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	10	1002	+			321					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.962G>A	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027307	0.97216	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.77620	-1.11	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.89658	3.05	0.80722	D	1	D	0.59767	0.986	B	0.43194	0.411	D	0.88191	0.2877	10	0.87932	D	0	-14.2941	17.8874	0.88861	0.0:0.0:1.0:0.0	.	321	P21281	VATB2_HUMAN	Q	321;195	ENSP00000276390:R321Q	ENSP00000276390:R321Q	R	+	2	0	ATP6V1B2	20116643	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGA		0.463	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		58	229	0	0	0	1	0	58	229					A	20072363	G	A	20072363	3	1	79	1	0	0	0	0	1	0	0	0	1180	1058	37	1	1000	1	ATP6V1B2	8	20072363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3552	20072363	126291659	9221	19538											
LZTS1	11178	broad.mit.edu	37	chr8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctgccggagctgccGcttctcctgctgaagctgca	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	343					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1027-1029)Cgg>Tgg		leucine zipper, putative tumor suppressor 1							18	20	19					8																	20110415		2198	4297	6495	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110415G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1027C>T	8.37:g.20110415G>A	ENSP00000370981:p.Arg343Trp					LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W	p.R343W			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1384	-			343					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1027C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101228	0.56183	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25912	2.09;2.09;1.77	5.45	3.44	0.39384	.	0.253086	0.40640	N	0.001051	T	0.34716	0.0907	L	0.52573	1.65	0.30304	N	0.789216	D;D	0.69078	0.997;0.991	P;B	0.52856	0.711;0.332	T	0.37220	-0.9715	10	0.87932	D	0	-60.708	13.3416	0.60549	0.0:0.0:0.7027:0.2973	.	343;343	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	343	ENSP00000370981:R343W;ENSP00000265801:R343W;ENSP00000429263:R343W	ENSP00000265801:R343W	R	-	1	2	LZTS1	20154695	0.971000	0.33674	1.000000	0.80357	0.883000	0.51084	0.166000	0.16583	1.282000	0.44496	0.561000	0.74099	CGG		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		37	193	0	0	0	1	0	37	193					A	20110415	G	A	20110415	3	1	79	1	0	0	0	0	1	0	0	0	9177	1086	38	1	771	1	LZTS1	8	20110415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38052	20110415	126253607	9222	19539											
LZTS1	11178	broad.mit.edu	37	chr8	20110763	20110763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggacagagccttcaGgctcatcatgttgctgtcct	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000522290.1_Silent_p.L227L|LZTS1_ENST00000265801.6_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	227					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(679-681)Ctg>Ttg		leucine zipper, putative tumor suppressor 1							69	61	64					8																	20110763		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110763G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.679C>T	8.37:g.20110763G>A						LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L	p.L227L			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1036	-			227					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.679C>T	CCDS6015.1																																																																																				0.637	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		93	360	0	0	0	1	0	93	360					A	20110763	G	A	20110763	2	1	79	1	0	0	0	0	0	0	0	1	9177	991	35	2		2	LZTS1	8	20110763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348	20110763	126253259	9223	19540											
GFRA2	2675	broad.mit.edu	37	chr8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcataggagcagctggGcaggatggtttgccggcggc	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	239					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(715-717)Ccc>Tcc		GDNF family receptor alpha 2							35	40	38					8																	21608179		2173	4269	6442	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608179G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.715C>T	8.37:g.21608179G>A	ENSP00000428518:p.Pro239Ser					GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S	p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1365	-			239					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.715C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530210	0.85706	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.75020	0.906;0.726;0.985	D	0.84576	0.0658	10	0.87932	D	0	-23.9515	17.4162	0.87500	0.0:0.0:1.0:0.0	.	106;134;239	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	239;134;239;106;134;239	ENSP00000428518:P239S;ENSP00000383592:P134S;ENSP00000429445:P239S;ENSP00000429206:P106S;ENSP00000429979:P134S;ENSP00000428721:P239S	ENSP00000383592:P134S	P	-	1	0	GFRA2	21652459	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.869000	0.99810	2.199000	0.70637	0.313000	0.20887	CCC		0.662	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		27	181	0	0	0	1	0	27	181					A	21608179	G	A	21608179	3	1	79	1	0	0	0	0	1	0	0	0	6377	1203	42	2	703	2	GFRA2	8	21608179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1497416	21608179	124755843	9224	19541											
XPO7	23039	broad.mit.edu	37	chr8	21840243	21840243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcaaagccacagagccCcacatgctggaaacttacac	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000252512.9	+	11	1297	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	XPO7_ENST00000433566.4_Silent_p.P400P|XPO7_ENST00000434536.1_Silent_p.P408P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	399				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1222-1224)ccC>ccT		exportin 7							136	136	136					8																	21840243		2029	4195	6224	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21840243C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1197C>T	8.37:g.21840243C>T						XPO7_ENST00000252512.9_Silent_p.P399P|XPO7_ENST00000433566.4_Silent_p.P400P	p.P408P			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	11	1326	+			399	Missing (in Ref. 3; BAA34465).				O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.1224C>T	CCDS47818.1																																																																																				0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		77	361	0	0	0	1	0	77	361					T	21840243	C	T	21840243	2	4	79	1	0	0	0	0	0	0	0	1	17503	610	22	2		2	XPO7	8	21840243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232064	21840243	124523779	9225	19542											
XPO7	23039	broad.mit.edu	37	chr8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcttttttgaacagtttCgtaagatctacattggggac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000252512.9	+	14	1772	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000434536.1_Missense_Mutation_p.R567C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1699-1701)Cgt>Tgt		exportin 7							115	116	116					8																	21844746		1914	4118	6032	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21844746C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1672C>T	8.37:g.21844746C>T	ENSP00000252512:p.Arg558Cys					XPO7_ENST00000252512.9_Missense_Mutation_p.R558C|XPO7_ENST00000433566.4_Missense_Mutation_p.R559C	p.R567C			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	14	1801	+			558					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1699C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203070	0.58234	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65178	-0.14;-0.14;-0.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	P;P;P	0.49358	0.877;0.923;0.923	B;P;P	0.53450	0.313;0.726;0.726	T	0.78201	-0.2296	10	0.38643	T	0.18	-8.456	14.4657	0.67482	0.1471:0.8529:0.0:0.0	.	559;567;558	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	567;558;559	ENSP00000404853:R567C;ENSP00000252512:R558C;ENSP00000410249:R559C	ENSP00000252512:R558C	R	+	1	0	XPO7	21900692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.720000	0.54933	2.732000	0.93576	0.655000	0.94253	CGT		0.483	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		85	419	0	0	0	1	0	85	419					T	21844746	C	T	21844746	3	4	79	1	0	0	0	0	1	0	0	0	17503	884	31	1	1778	1	XPO7	8	21844746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4503	21844746	124519276	9226	19543											
EPB49	2039	broad.mit.edu	37	chr8	21926954	21926954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggacagccggtcgcctGgaatcatctctcaggcctcg	14	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21926954G>A	ENST00000523266.1	+	6	781	c.319G>A	c.(319-321)Gga>Aga	p.G107R	DMTN_ENST00000381470.3_Missense_Mutation_p.G107R|DMTN_ENST00000432128.1_Missense_Mutation_p.G107R|DMTN_ENST00000523782.2_Missense_Mutation_p.G82R|DMTN_ENST00000265800.5_Missense_Mutation_p.G107R|DMTN_ENST00000519907.1_Missense_Mutation_p.G107R|DMTN_ENST00000358242.3_Missense_Mutation_p.G107R|DMTN_ENST00000517600.1_Missense_Mutation_p.G67R|DMTN_ENST00000443491.2_Missense_Mutation_p.G82R|DMTN_ENST00000415253.1_Missense_Mutation_p.G107R	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	107					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CCGGTCGCCTGGAATCATCTC	0.647																																						ENST00000358242.3																			0											c.(319-321)Gga>Aga		dematin actin binding protein							54	56	55					8																	21926954		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926954G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.319G>A	8.37:g.21926954G>A	ENSP00000427866:p.Gly107Arg					DMTN_ENST00000415253.1_Missense_Mutation_p.G107R|DMTN_ENST00000523782.2_Missense_Mutation_p.G82R|DMTN_ENST00000523266.1_Missense_Mutation_p.G107R|DMTN_ENST00000519907.1_Missense_Mutation_p.G107R|DMTN_ENST00000381470.3_Missense_Mutation_p.G107R|DMTN_ENST00000265800.5_Missense_Mutation_p.G107R|DMTN_ENST00000517600.1_Missense_Mutation_p.G67R|DMTN_ENST00000443491.2_Missense_Mutation_p.G82R|DMTN_ENST00000432128.1_Missense_Mutation_p.G107R	p.G107R							6	812	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.319G>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394362	0.25205	.	.	ENSG00000158856	ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.51;1.03;1.03;1.03;1.03;1.03;1.51;1.51;1.51;1.03;1.51;1.03;1.03;1.03;1.03	4.7	4.7	0.59300	.	0.607633	0.15551	N	0.256395	T	0.19967	0.0480	N	0.04245	-0.25	0.36855	D	0.888083	P;B;B;B;B;B	0.42409	0.779;0.012;0.012;0.001;0.002;0.0	B;B;B;B;B;B	0.32149	0.141;0.012;0.012;0.004;0.007;0.001	T	0.29822	-0.9999	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:0.0:1.0:0.0	.	46;67;107;82;82;107	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	R	82;107;107;107;82;67;67;82;82;107;107;46;107;107;107;107;107	ENSP00000429116:G82R;ENSP00000430600:G107R;ENSP00000370879:G107R;ENSP00000416111:G107R;ENSP00000397904:G82R;ENSP00000430618:G67R;ENSP00000428733:G82R;ENSP00000430382:G82R;ENSP00000428415:G107R;ENSP00000265800:G107R;ENSP00000429948:G107R;ENSP00000350977:G107R;ENSP00000401291:G107R;ENSP00000427866:G107R;ENSP00000429377:G107R	ENSP00000265800:G107R	G	+	1	0	EPB49	21982900	0.994000	0.37717	0.977000	0.42913	0.023000	0.10783	5.047000	0.64232	2.472000	0.83506	0.650000	0.86243	GGA		0.647	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		31	143	0	0	0	1	0	31	143					A	21926954	G	A	21926954	3	1	79	1	0	0	0	0	1	0	0	0	5177	1349	47	2	337	2	EPB49	8	21926954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82208	21926954	124437068	9227	19544											
FAM160B2	64760	broad.mit.edu	37	chr8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctgagaccgaggagCtggacggtgggaccacagag	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(706-708)Ctg>Atg		family with sequence similarity 160, member B2							36	43	41					8																	21955759		2049	4191	6240	SO:0001583	missense	64760							g.chr8:21955759C>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.706C>A	8.37:g.21955759C>A	ENSP00000289921:p.Leu236Met						p.L236M	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			6	752	+			236					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.706C>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380408	0.42207	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.07	4.17	0.49024	.	0.628857	0.16973	N	0.192038	T	0.30885	0.0779	N	0.22421	0.69	0.22389	N	0.999147	P	0.34892	0.474	P	0.46419	0.516	T	0.25710	-1.0124	10	0.49607	T	0.09	-2.3581	10.7464	0.46183	0.1901:0.8099:0.0:0.0	.	236	Q86V87	F16B2_HUMAN	M	236	ENSP00000289921:L236M	ENSP00000289921:L236M	L	+	1	2	FAM160B2	22011705	0.891000	0.30450	0.272000	0.24630	0.018000	0.09664	1.361000	0.34136	1.089000	0.41292	0.561000	0.74099	CTG		0.652	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			14	61	1	0	0.00185496	1	0.00187281	14	61					A	21955759	C	A	21955759	3	1	79	1	0	0	0	0	1	0	0	0	5492	796	28	3	728	3	FAM160B2	8	21955759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28805	21955759	124408263	9228	19545											
NUDT18	79873	broad.mit.edu	37	chr8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcgcctccacgatggtctCccctggctccattctccccg	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000309188.6	-	4	362	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	82	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(244-246)Gag>Tag		nudix (nucleoside diphosphate linked moiety X)-type motif 18							30	38	35					8																	21965776		2131	4217	6348	SO:0001587	stop_gained	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965776C>A		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.244G>T	8.37:g.21965776C>A	ENSP00000307852:p.Glu82*					NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*|NUDT18_ENST00000521807.2_3'UTR	p.E82*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	4	362	-			82			Nudix hydrolase.		Q8IZ75|Q9H687	Nonsense_Mutation	SNP	ENST00000309188.6	37	c.244G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.090209|6.090209	0.97271|0.97271	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|T	.|0.13307	.|2.6	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.32704	.|0.0838	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33317	.|-0.9873	.|5	0.87932|0.87932	D|D	0|0	0.0307|0.0307	16.0045|16.0045	0.80349|0.80349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	5;82|117	.|ENSP00000430117:G117V	ENSP00000307852:E82X|ENSP00000430117:G117V	E|G	-|-	1|2	0|0	NUDT18|NUDT18	22021721|22021721	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.958000|0.958000	0.62258|0.62258	4.586000|4.586000	0.60984|0.60984	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.672	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		5	32	1	0	0.0215528	1	0.0216335	5	32					A	21965776	C	A	21965776	4	1	79	1	0	0	0	0	0	1	0	0	10777	864	30	3	735	3	NUDT18	8	21965776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10017	21965776	124398246	9229	19546											
HR	55806	broad.mit.edu	37	chr8	21982906	21982906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaccactgagcaggtgCttggcgaggcctgtgctgag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	556					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1666-1668)aaG>aaA		hair growth associated							28	30	29					8																	21982906		2202	4298	6500	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982906C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1668G>A	8.37:g.21982906C>T						HR_ENST00000312841.8_Silent_p.K556K	p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3148	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	556					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1668G>A	CCDS6022.1																																																																																				0.687	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			16	78	0	0	0	1	0	16	78					T	21982906	C	T	21982906	2	4	79	1	0	0	0	0	0	0	0	1	7377	796	28	2		2	HR	8	21982906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17130	21982906	124381116	9230	19547											
HR	55806	broad.mit.edu	37	chr8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagctggagttggtggCtgtgtcttcctcctgctgca	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	533					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1597-1599)Gcc>Tcc		hair growth associated							41	43	42					8																	21982977		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982977C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1597G>T	8.37:g.21982977C>A	ENSP00000370826:p.Ala533Ser					HR_ENST00000312841.8_Missense_Mutation_p.A533S	p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3077	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	533					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1597G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372195	0.24857	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71341	-0.55;-0.56	4.77	1.71	0.24356	.	1.715950	0.03661	N	0.242548	T	0.56171	0.1967	L	0.31294	0.92	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.14578	0.011;0.005	T	0.32348	-0.9910	10	0.07990	T	0.79	0.1831	6.766	0.23566	0.339:0.4494:0.2116:0.0	.	533;533	O43593-2;O43593	.;HAIR_HUMAN	S	533	ENSP00000370826:A533S;ENSP00000326765:A533S	ENSP00000326765:A533S	A	-	1	0	HR	22038922	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.368000	0.07543	0.087000	0.17167	0.462000	0.41574	GCC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			25	133	1	0	8.24728e-16	1	9.03206e-16	25	133					A	21982977	C	A	21982977	3	1	79	1	0	0	0	0	1	0	0	0	7377	797	28	3	2032	3	HR	8	21982977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	21982977	124381045	9231	19548											
HR	55806	broad.mit.edu	37	chr8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtacccaaggttcccatCgcctggcccagcccagacgt	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(895-897)Gat>Aat		hair growth associated							31	32	32					8																	21985060		2203	4298	6501	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21985060C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.895G>A	8.37:g.21985060C>T	ENSP00000370826:p.Asp299Asn					HR_ENST00000312841.8_Missense_Mutation_p.D299N	p.D299N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2375	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	299					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.895G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453240	0.04540	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70749	-0.51;-0.51	5.8	-0.854	0.10705	.	0.683555	0.14524	N	0.314266	T	0.40322	0.1112	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.08179	T	0.78	0.2563	9.1659	0.37052	0.0:0.3252:0.0:0.6748	.	299;299	O43593-2;O43593	.;HAIR_HUMAN	N	299	ENSP00000370826:D299N;ENSP00000326765:D299N	ENSP00000326765:D299N	D	-	1	0	HR	22041005	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	-0.153000	0.10144	-0.295000	0.08960	-0.672000	0.03802	GAT		0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			67	282	0	0	0	1	0	67	282					T	21985060	C	T	21985060	3	4	79	1	0	0	0	0	1	0	0	0	7377	884	31	1	2742	1	HR	8	21985060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2083	21985060	124378962	9232	19549											
HR	55806	broad.mit.edu	37	chr8	21986450	21986450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccattctgggggccctcGccctccacaagtgggagcat	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	78					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(232-234)ggC>ggT		hair growth associated							44	46	45					8																	21986450		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986450G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.234C>T	8.37:g.21986450G>A						HR_ENST00000312841.8_Silent_p.G78G	p.G78G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1714	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	78					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.234C>T	CCDS6022.1																																																																																				0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			60	264	0	0	0	1	0	60	264					A	21986450	G	A	21986450	2	1	79	1	0	0	0	0	0	0	0	1	7377	1074	38	1		1	HR	8	21986450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	21986450	124377572	9233	19550											
HR	55806	broad.mit.edu	37	chr8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtctggggtgctcaggaCgcccctccaaaagggagcag	16	11	2	0	rs372594532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	53					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(157-159)Gtc>Atc		hair growth associated		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	40	43	42		157,157	-1.8	0.4	8		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HR	NM_018411.4,NM_005144.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	53/1135,53/1190	21986527	1,13005	2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986527C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.157G>A	8.37:g.21986527C>T	ENSP00000370826:p.Val53Ile					HR_ENST00000312841.8_Missense_Mutation_p.V53I	p.V53I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1637	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	53					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.157G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	2.361	-0.346539	0.05208	0.0	1.16E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.8	-1.78	0.07957	.	1.199030	0.06230	N	0.688518	T	0.52869	0.1761	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.25606	-1.0127	10	0.26408	T	0.33	-1.6763	5.5637	0.17158	0.1308:0.4348:0.0:0.4344	.	53;53;53	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	I	53	ENSP00000370826:V53I;ENSP00000326765:V53I	ENSP00000326765:V53I	V	-	1	0	HR	22042472	0.001000	0.12720	0.378000	0.26068	0.138000	0.21146	-0.610000	0.05629	-0.500000	0.06614	-2.069000	0.00389	GTC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			63	286	0	0	0	1	0	63	286					T	21986527	C	T	21986527	3	4	79	1	0	0	0	0	1	0	0	0	7377	536	19	1	3484	1	HR	8	21986527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	21986527	124377495	9234	19551											
REEP4	80346	broad.mit.edu	37	chr8	21997708	21997708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagataaaaatgtctgtaacGatctctgctgccatgaagag	10	7	2	3	rs146312249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21997708G>A	ENST00000306306.3	-	3	627	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	53					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGTCTGTAACGATCTCTGCTG	0.597																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(157-159)atC>atT		receptor accessory protein 4		C		1,4405	2.1+/-5.4	0,1,2202	78	68	71		159	2.3	1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	REEP4	NM_025232.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		53/258	21997708	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80346					integral to membrane		g.chr8:21997708G>A	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.159C>T	8.37:g.21997708G>A						REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	3	627	-			53					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Silent	SNP	ENST00000306306.3	37	c.159C>T	CCDS6024.1																																																																																				0.597	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		10	349	0	0	0	1	0	10	349					A	21997708	G	A	21997708	2	1	79	1	0	0	0	0	0	0	0	1	13257	1048	37	1		1	REEP4	8	21997708	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11181	21997708	124366314	9235	19552											
SFTPC	649	broad.mit.edu	37	chr8	22020132	22020132	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggcattccctgctgcCcagtgcacctgaaacgcctt	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22020132C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000521315.1_Missense_Mutation_p.P30S|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCCTGCTGCCCAGTGCACCT	0.612																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(88-90)Cca>Tca		surfactant protein C							131	140	137					8																	22020132		2078	4204	6282	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020132C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020132C>T	Exception_encountered					SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S|SFTPC_ENST00000524255.1_Intron	p.P30S			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	120	+			30					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.88C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403037	0.62288	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	4.54	4.54	0.55810	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.42420	D	0.000715	D	0.96393	0.8823	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96590	0.9437	10	0.72032	D	0.01	-24.4444	13.1596	0.59537	0.0:1.0:0.0:0.0	.	30;30;30;30;30	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	S	30	ENSP00000316152:P30S;ENSP00000430410:P30S;ENSP00000407931:P30S;ENSP00000429496:P30S;ENSP00000428817:P30S	ENSP00000316152:P30S	P	+	1	0	SFTPC	22076077	0.991000	0.36638	0.580000	0.28601	0.466000	0.32739	1.409000	0.34680	2.234000	0.73211	0.655000	0.94253	CCA		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		112	519	0	0	0	1	0	112	519					T	22020132	C	T	22020132	1	4	79	0	1	0	0	0	0	0	0	0	14242	623	22	2		2	SFTPC	8	22020132	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22424	22020132	124343890	9236	19553											
SFTPC	649	broad.mit.edu	37	chr8	22021513	22021513	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccttcctgggcatggccGtgagcaccctgtgtggcgag	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22021513G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000521315.1_Missense_Mutation_p.V179M|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M|SFTPC_ENST00000437090.2_3'UTR|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGCATGGCCGTGAGCACCCT	0.682																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(535-537)Gtg>Atg		surfactant protein C							44	53	50					8																	22021513		2044	4179	6223	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021513G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021513G>A	Exception_encountered					SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M	p.V179M			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	567	+			185			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.535G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738685	0.30774	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000524255	D;D;D	0.81739	-1.53;-1.53;-1.53	5.5	-2.12	0.07165	BRICHOS (2);	0.969423	0.08458	N	0.942799	T	0.60418	0.2267	L	0.35288	1.05	0.19575	N	0.999963	B;P	0.34800	0.141;0.469	B;B	0.21708	0.036;0.036	T	0.50303	-0.8844	10	0.41790	T	0.15	-20.3838	0.8375	0.01142	0.3083:0.3001:0.2394:0.1522	.	179;185	E9PGX3;P11686	.;PSPC_HUMAN	M	185;179;132	ENSP00000316152:V185M;ENSP00000430410:V179M;ENSP00000429552:V132M	ENSP00000316152:V185M	V	+	1	0	SFTPC	22077458	0.000000	0.05858	0.026000	0.17262	0.897000	0.52465	-0.533000	0.06157	-0.254000	0.09500	0.650000	0.86243	GTG		0.682	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		71	329	0	0	0	1	0	71	329					A	22021513	G	A	22021513	1	1	79	0	1	0	0	0	0	0	0	0	14242	1145	40	1		1	SFTPC	8	22021513	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	22021513	124342509	9237	19554											
BMP1	649	broad.mit.edu	37	chr8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctgcaagacagcacaGgcaacttctcctcccctgaa	7	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	331	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(991-993)Ggc>Agc		bone morphogenetic protein 1							233	206	215					8																	22037910		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037910G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.991G>A	8.37:g.22037910G>A	ENSP00000305714:p.Gly331Ser					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S	p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1661	+			331			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.991G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623558	0.96660	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	CUB (5);	0.000000	0.39146	U	0.001449	T	0.80675	0.4668	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.97110	0.912;1.0;0.99;0.985	D	0.85208	0.1019	10	0.72032	D	0.01	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	331;404;331;331	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	331	ENSP00000305714:G331S;ENSP00000380917:G331S;ENSP00000306121:G331S;ENSP00000380915:G331S	ENSP00000306121:G331S	G	+	1	0	BMP1	22093855	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	GGC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		96	932	0	0	0	1	0	96	932					A	22037910	G	A	22037910	3	1	79	1	0	0	0	0	1	0	0	0	1458	1000	35	2	1021	2	BMP1	8	22037910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16397	22037910	124326112	9238	19555											
BMP1	649	broad.mit.edu	37	chr8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgcagctgtgaccccGggtacgagctggccccagac	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	577	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1729-1731)Ggg>Agg		bone morphogenetic protein 1							43	44	43					8																	22053064		2203	4297	6500	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22053064G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1729G>A	8.37:g.22053064G>A	ENSP00000305714:p.Gly577Arg					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R	p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2399	+			577			EGF-like 1; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1729G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080077	0.94050	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98264	-3.07;-4.83;-4.83;-4.83	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39341	U	0.001400	D	0.99187	0.9718	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.77557	0.984;0.985;0.99;0.887	D	0.99312	1.0904	10	0.87932	D	0	.	17.476	0.87659	0.0:0.0:1.0:0.0	.	577;650;577;577	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	R	577	ENSP00000305714:G577R;ENSP00000380917:G577R;ENSP00000306121:G577R;ENSP00000380915:G577R	ENSP00000306121:G577R	G	+	1	0	BMP1	22109009	1.000000	0.71417	0.354000	0.25760	0.940000	0.58332	9.843000	0.99491	2.419000	0.82065	0.563000	0.77884	GGG		0.662	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		29	448	0	0	0	1	0	29	448					A	22053064	G	A	22053064	3	1	79	1	0	0	0	0	1	0	0	0	1458	1116	39	1	1779	1	BMP1	8	22053064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15154	22053064	124310958	9239	19556											
BMP1	649	broad.mit.edu	37	chr8	22059428	22059428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccatgacaacaagcaCgactgcaaagaaggtacggg	11	11	0	2	rs377456913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	740	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2218-2220)caC>caT		bone morphogenetic protein 1		C		0,4406		0,0,2203	89	63	72		2220	-6.2	0.2	8		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP1	NM_006129.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		740/987	22059428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22059428C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2220C>T	8.37:g.22059428C>T						BMP1_ENST00000354870.5_3'UTR	p.H740H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	16	2890	+			740			EGF-like 2; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2220C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		16	100	0	0	0	1	0	16	100					T	22059428	C	T	22059428	2	4	79	1	0	0	0	0	0	0	0	1	1458	535	19	1		1	BMP1	8	22059428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6364	22059428	124304594	9240	19557											
BMP1	649	broad.mit.edu	37	chr8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgacatccaccagtgGtaccatcaccagccccaact	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2266-2268)gGt>gAt		bone morphogenetic protein 1							102	77	85					8																	22064400		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064400G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2267G>A	8.37:g.22064400G>A	ENSP00000305714:p.Gly756Asp					BMP1_ENST00000354870.5_3'UTR	p.G756D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	17	2937	+			756			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2267G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652649	0.88056	.	.	ENSG00000168487	ENST00000306385	T	0.50548	0.74	4.0	4.0	0.46444	CUB (5);	0.000000	0.39341	U	0.001397	T	0.78464	0.4287	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86443	0.1768	10	0.72032	D	0.01	.	15.0597	0.71942	0.0:0.0:1.0:0.0	.	756	P13497	BMP1_HUMAN	D	756	ENSP00000305714:G756D	ENSP00000305714:G756D	G	+	2	0	BMP1	22120345	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.640000	0.98453	2.052000	0.61016	0.462000	0.41574	GGT		0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		54	234	0	0	0	1	0	54	234					A	22064400	G	A	22064400	3	1	79	1	0	0	0	0	1	0	0	0	1458	1261	44	2	2423	2	BMP1	8	22064400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4972	22064400	124299622	9241	19558											
BMP1	649	broad.mit.edu	37	chr8	22067082	22067082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtggccgaggaaggctaCggcgtggagctcgtgttcca	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	900	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2698-2700)taC>taT		bone morphogenetic protein 1							300	223	249					8																	22067082		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22067082C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2700C>T	8.37:g.22067082C>T						BMP1_ENST00000354870.5_3'UTR	p.Y900Y	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3370	+			900			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2700C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		170	815	0	0	0	1	0	170	815					T	22067082	C	T	22067082	2	4	79	1	0	0	0	0	0	0	0	1	1458	547	19	1		1	BMP1	8	22067082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2682	22067082	124296940	9242	19559											
BMP1	649	broad.mit.edu	37	chr8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactccacagcaggaagtgAccactgcctgagcaggggcg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2959-2961)tgA>tgG		bone morphogenetic protein 1							97	80	86					8																	22069241		2203	4300	6503	SO:0001578	stop_lost	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22069241A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2961A>G	8.37:g.22069241A>G	ENSP00000305714:p.*987Trpext*45					BMP1_ENST00000354870.5_3'UTR	p.*987W	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	20	3631	+			0					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonstop_Mutation	SNP	ENST00000306385.5	37	c.2961A>G	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471565	0.63737	.	.	ENSG00000168487	ENST00000306385	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0626	0.59015	1.0:0.0:0.0:0.0	.	.	.	.	W	987	.	.	X	+	3	0	BMP1	22125186	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	8.924000	0.92827	1.924000	0.55735	0.533000	0.62120	TGA		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		70	340	0	0	0	1	0	70	340					G	22069241	A	G	22069241	4	3	79	1	0	0	0	0	0	0	0	0	1458	288	10	4	3129	4	BMP1	8	22069241	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	22069241	124294781	9243	19560											
PHYHIP	9796	broad.mit.edu	37	chr8	22079169	22079169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggcgtagtggtaggcCgtgtacatgcagtagaagtc	16	6	0	1	rs375706223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000321613.3	-	6	1146	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000454243.2_Silent_p.T230T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(688-690)acG>acA		phytanoyl-CoA 2-hydroxylase interacting protein		C	,	2,4114		0,2,2056	19	25	23		690,690	-4.2	1	8		23	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	0,2,6244	TT,TC,CC		0.0,0.0486,0.016	,	230/331,230/331	22079169	2,12490	2058	4188	6246	SO:0001819	synonymous_variant	9796							g.chr8:22079169C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.690G>A	8.37:g.22079169C>T						PHYHIP_ENST00000321613.3_Silent_p.T230T	p.T230T	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1264	-			230					D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	c.690G>A	CCDS43723.1																																																																																				0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		16	128	0	0	0	1	0	16	128					T	22079169	C	T	22079169	2	4	79	1	0	0	0	0	0	0	0	1	11908	639	23	1		1	PHYHIP	8	22079169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9928	22079169	124284853	9244	19561											
PIWIL2	55124	broad.mit.edu	37	chr8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcagagaagtggacaAgcctccctgtaccttcagca	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000454009.2	+	5	1015	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	169					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)			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)		GAAGTGGACAAGCCTCCCTGT	0.587																																						ENST00000356766.6																			0				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						c.(505-507)aAg>aCg		piwi-like RNA-mediated gene silencing 2							92	80	84					8																	22140627		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.chr8:22140627A>C	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.506A>C	8.37:g.22140627A>C	ENSP00000406956:p.Lys169Thr					PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.K169T	p.K169T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	5	654	+			169					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.506A>C	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829594	0.32329	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04970	3.53;3.52;3.53	5.52	3.12	0.35913	.	0.889113	0.09620	N	0.777691	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.48340	-0.9044	10	0.16420	T	0.52	-20.0075	6.8642	0.24084	0.8062:0.0:0.1938:0.0	.	169;169	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	169	ENSP00000349208:K169T;ENSP00000428267:K169T;ENSP00000406956:K169T	ENSP00000349208:K169T	K	+	2	0	PIWIL2	22196572	0.376000	0.25098	0.218000	0.23776	0.121000	0.20230	1.893000	0.39758	0.472000	0.27344	-0.263000	0.10527	AAG		0.587	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			45	241	0	0	0	1	0	45	241					C	22140627	A	C	22140627	3	2	79	1	0	0	0	0	1	0	0	0	12000	72	3	4	520	4	PIWIL2	8	22140627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61458	22140627	124223395	9245	19562											
PIWIL2	55124	broad.mit.edu	37	chr8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctctttccaaaggcatgCcatttatcagcagaataaag	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000454009.2	+	11	1696	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	396	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)			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)		CAAAGGCATGCCATTTATCAG	0.373																																						ENST00000356766.6																			0				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						c.(1186-1188)gCc>gAc		piwi-like RNA-mediated gene silencing 2							115	105	109					8																	22161539		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.chr8:22161539C>A	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.1187C>A	8.37:g.22161539C>A	ENSP00000406956:p.Ala396Asp					PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A396D	p.A396D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	11	1335	+			396			PAZ.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1187C>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.276038	0.10403	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	4.91	0.64330	Argonaute/Dicer protein, PAZ (3);	0.451135	0.26082	N	0.026456	T	0.05686	0.0149	N	0.04260	-0.245	0.36010	D	0.837998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.24977	-1.0145	10	0.08381	T	0.77	-47.1199	10.3046	0.43672	0.0:0.8473:0.0:0.1527	.	396;396	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	396	ENSP00000349208:A396D;ENSP00000428267:A396D;ENSP00000406956:A396D	ENSP00000349208:A396D	A	+	2	0	PIWIL2	22217484	0.600000	0.26899	0.998000	0.56505	0.726000	0.41606	1.119000	0.31258	1.595000	0.50050	-0.229000	0.12294	GCC		0.373	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			63	302	1	0	4.00338e-15	1	4.36571e-15	63	302					A	22161539	C	A	22161539	3	1	79	1	0	0	0	0	1	0	0	0	12000	739	26	3	1225	3	PIWIL2	8	22161539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20912	22161539	124202483	9246	19563											
PIWIL2	55124	broad.mit.edu	37	chr8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctagatccccatgcatttCtgggcacttttttacccaaa	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000454009.2	+	16	2324	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	605					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)			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)		CCATGCATTTCTGGGCACTTT	0.418																																						ENST00000356766.6																			0				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						c.(1813-1815)ttC>ttA		piwi-like RNA-mediated gene silencing 2							97	101	100					8																	22168639		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.chr8:22168639C>A	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.1815C>A	8.37:g.22168639C>A	ENSP00000406956:p.Phe605Leu					PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L|PIWIL2_ENST00000454009.2_Missense_Mutation_p.F605L	p.F605L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	16	1963	+			605					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1815C>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099794	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	5.8	4.01	0.46588	Ribonuclease H-like (1);	0.270137	0.43416	D	0.000575	T	0.08626	0.0214	M	0.63428	1.95	0.38202	D	0.940228	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.09590	T	0.72	-1.5471	8.6361	0.33948	0.0:0.7649:0.0:0.2351	.	605;605	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	605	ENSP00000349208:F605L;ENSP00000428267:F605L;ENSP00000406956:F605L	ENSP00000349208:F605L	F	+	3	2	PIWIL2	22224584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.638000	0.37165	0.798000	0.33994	0.561000	0.74099	TTC		0.418	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			118	499	1	0	2.91707e-64	1	3.68505e-64	118	499					A	22168639	C	A	22168639	3	1	79	1	0	0	0	0	1	0	0	0	12000	912	32	3	1873	3	PIWIL2	8	22168639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7100	22168639	124195383	9247	19564											
SLC39A14	23516	broad.mit.edu	37	chr8	22267616	22267616	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctaacgcgctattccaGctcatcccagaggtgcagta	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22267616G>T	ENST00000381237.1	+	3	576				SLC39A14_ENST00000359741.5_Missense_Mutation_p.Q205H|SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14						cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CGCTATTCCAGCTCATCCCAG	0.582																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(613-615)caG>caT		solute carrier family 39 (zinc transporter), member 14							165	128	140					8																	22267616		2203	4300	6503	SO:0001627	intron_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22267616G>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.457+1607G>T	8.37:g.22267616G>T						SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000240095.6_Intron	p.Q205H	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	4	790	+			205					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.615G>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289293	0.40494	.	.	ENSG00000104635	ENST00000359741	T	0.34472	1.36	5.91	5.04	0.67666	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.06285	-1.0835	8	0.02654	T	1	.	13.8655	0.63585	0.0737:0.0:0.9263:0.0	.	205	B6EU88	.	H	205	ENSP00000352779:Q205H	ENSP00000352779:Q205H	Q	+	3	2	SLC39A14	22323561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.649000	0.74364	1.506000	0.48736	0.655000	0.94253	CAG		0.582	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		12	497	1	0	0.105934	1	0.106132	12	497					T	22267616	G	T	22267616	1	4	79	0	1	0	0	0	0	0	0	0	14667	962	34	3		3	SLC39A14	8	22267616	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98977	22267616	124096406	9248	19565											
PPP3CC	5533	broad.mit.edu	37	chr8	22355569	22355569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaacattgtttctgcTtcggggaaatcatgaatgca	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22355569T>G	ENST00000240139.5	+	4	755	c.428T>G	c.(427-429)cTt>cGt	p.L143R	PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	143					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTGTTTCTGCTTCGGGGAAAT	0.333																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(427-429)cTt>cGt		protein phosphatase 3, catalytic subunit, gamma isozyme							140	130	133					8																	22355569		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22355569T>G		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.428T>G	8.37:g.22355569T>G	ENSP00000240139:p.Leu143Arg					PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R	p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	4	755	+		Prostate(55;0.104)	143					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.428T>G	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.666485|4.666485	0.88251|0.88251	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	.|0.058467	.|0.64402	.|D	.|0.000002	T|T	0.58680|0.58680	0.2139|0.2139	H|H	0.99956|0.99956	5.05|5.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.994;0.997;0.994	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.87932	.|D	.|0	-11.9987|-11.9987	15.3614|15.3614	0.74478|0.74478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|143;143;143;143	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	V|R	20|143	.|ENSP00000429379:L143R;ENSP00000240139:L143R;ENSP00000289963:L143R;ENSP00000380878:L143R	.|ENSP00000240139:L143R	F|L	+|+	1|2	0|0	PPP3CC|PPP3CC	22411514|22411514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.687000|7.687000	0.84139|0.84139	2.267000|2.267000	0.75376|0.75376	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.333	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		7	321	0	0	0	1	0	7	321					G	22355569	T	G	22355569	3	3	79	1	0	0	0	0	1	0	0	0	12446	1609	56	4	442	4	PPP3CC	8	22355569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87953	22355569	124008453	9249	19566											
PDLIM2	64236	broad.mit.edu	37	chr8	22439020	22439020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatccgccagagcccctcGcccctgcggctgcagctgga	12	17	0	2	rs376478765		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000397760.4	+	3	622	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000265810.4_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667																																						ENST00000265810.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(220-222)tcG>tcA		PDZ and LIM domain 2 (mystique)							55	50	52					8																	22439020		2202	4300	6502	SO:0001819	synonymous_variant	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22439020G>A	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.222G>A	8.37:g.22439020G>A						PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000397760.4_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409141.1_Silent_p.S74S	p.S74S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	2	337	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	74			PDZ.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Silent	SNP	ENST00000397760.4	37	c.222G>A																																																																																					0.667	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			15	110	0	0	0	1	0	15	110					A	22439020	G	A	22439020	2	1	79	1	0	0	0	0	0	0	0	1	11722	1074	38	1		1	PDLIM2	8	22439020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83451	22439020	123925002	9250	19567											
C8orf58	541565	broad.mit.edu	37	chr8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagttctgagccccccGcccaggtaggccgactcctg	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000289989.5	+	2	381	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657																																						ENST00000409586.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(307-309)Gcc>Acc		chromosome 8 open reading frame 58							12	16	15					8																	22458661		2178	4294	6472	SO:0001583	missense	541565							g.chr8:22458661G>A	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.307G>A	8.37:g.22458661G>A	ENSP00000289989:p.Ala103Thr					C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Missense_Mutation_p.A103T	p.A103T	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	427	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	103					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.307G>A	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753780	0.31046	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.91	1.93	0.25924	.	0.507370	0.16623	N	0.206407	T	0.33381	0.0861	M	0.63428	1.95	0.09310	N	1	P;D;P	0.62365	0.951;0.991;0.951	B;P;B	0.44518	0.32;0.452;0.32	T	0.26360	-1.0105	9	0.72032	D	0.01	-4.5702	5.0944	0.14725	0.1185:0.2122:0.6693:0.0	.	103;31;103	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	T	172;103;103;31	.	ENSP00000399696:A172T	A	+	1	0	AC037459.4;C8orf58	22514606	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.336000	0.19823	0.993000	0.38866	-0.406000	0.06334	GCC		0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		22	125	0	0	0	1	0	22	125					A	22458661	G	A	22458661	3	1	79	1	0	0	0	0	1	0	0	0	2440	1087	38	1	313	1	C8orf58	8	22458661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19641	22458661	123905361	9251	19568											
KIAA1967	57805	broad.mit.edu	37	chr8	22475262	22475262	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgttgcctcaaaccagtcaGagatggagttctcttcactt	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22475262G>T	ENST00000308511.4	+	16	2293	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*	CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E357*|CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E682*|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	682					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AAACCAGTCAGAGATGGAGTT	0.572																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2044-2046)Gag>Tag									189	178	181					8																	22475262		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22475262G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2044G>T	8.37:g.22475262G>T	ENSP00000310670:p.Glu682*					KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E357*|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E682*	p.E682*			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	16	2293	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	682					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	ENST00000308511.4	37	c.2044G>T	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.772398|10.772398	0.99465|0.99465	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.078963|.	0.53938|.	D|.	0.000056|.	.|T	.|0.71685	.|0.3369	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72587	.|-0.4248	.|3	0.17369|.	T|.	0.5|.	-27.246|-27.246	15.6866|15.6866	0.77415|0.77415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	682;682;357|373	.|.	ENSP00000310670:E682X|.	E|Q	+|+	1|3	0|2	KIAA1967|KIAA1967	22531207|22531207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	5.207000|5.207000	0.65197|0.65197	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.572	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		89	533	1	0	9.24773e-40	1	1.11906e-39	89	533					T	22475262	G	T	22475262	4	4	79	1	0	0	0	0	0	1	0	0	8295	943	33	3	2102	3	KIAA1967	8	22475262	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16601	22475262	123888760	9252	19569											
EGR3	1960	broad.mit.edu	37	chr8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgaagccgggggcaccCccaagatgccggcgctcatg	13	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	112					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGGGCACCCCCAAGATGCC	0.637																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(334-336)gGg>gAg		early growth response 3							37	40	39					8																	22548815		2201	4299	6500	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548815C>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.335G>A	8.37:g.22548815C>T	ENSP00000318057:p.Gly112Glu					RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000519492.1_3'UTR	p.G112E	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	692	-		Prostate(55;0.0421)|Breast(100;0.102)	112					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.335G>A	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697254	0.68386	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.27720	1.65;1.65	5.39	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57780	-0.7752	10	0.87932	D	0	-14.7611	12.5883	0.56430	0.1667:0.8333:0.0:0.0	.	74;112	E7EW38;Q06889	.;EGR3_HUMAN	E	112;74	ENSP00000318057:G112E;ENSP00000430310:G74E	ENSP00000318057:G112E	G	-	2	0	EGR3	22604760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.840000	0.62817	2.517000	0.84864	0.462000	0.41574	GGG		0.637	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		73	324	0	0	0	1	0	73	324					T	22548815	C	T	22548815	3	4	79	1	0	0	0	0	1	0	0	0	4989	623	22	2	832	2	EGR3	8	22548815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73553	22548815	123815207	9253	19570											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttctatgacctgttcCtcatggacctgagtgagggg	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000251822.6	+	5	1426	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	297	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACCTGTTCCTCATGGACCT	0.627																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(889-891)Ctc>Atc		Rho-related BTB domain containing 2							82	83	83					8																	22864647		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864647C>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.889C>A	8.37:g.22864647C>A	ENSP00000251822:p.Leu297Ile					RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I	p.L297I	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1426	+		Prostate(55;0.0513)|Breast(100;0.214)	297			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.889C>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209694	0.39003	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09817	2.94;2.95;2.95	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.167226	0.52532	D	0.000062	T	0.12347	0.0300	L	0.48642	1.525	0.39048	D	0.960263	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.23716	0.048;0.033;0.048	T	0.04294	-1.0962	10	0.49607	T	0.09	.	12.4783	0.55827	0.0:0.9185:0.0:0.0815	.	304;297;319	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	319;304;297	ENSP00000427926:L319I;ENSP00000429141:L304I;ENSP00000251822:L297I	ENSP00000251822:L297I	L	+	1	0	RHOBTB2	22920592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	1.224000	0.43551	0.655000	0.94253	CTC		0.627	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			130	558	1	0	9.0444e-51	1	1.12123e-50	130	558					A	22864647	C	A	22864647	3	1	79	1	0	0	0	0	1	0	0	0	13384	681	24	3	988	3	RHOBTB2	8	22864647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315832	22864647	123499375	9254	19571											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864733	22864733	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagggccactctgatcaAcaccaccaccatcaccacca	4	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000251822.6	+	5	1512	c.975A>G	c.(973-975)caA>caG	p.Q325Q	RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	325	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTGATCAAcaccaccacc	0.652																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(973-975)caA>caG		Rho-related BTB domain containing 2							37	41	40					8																	22864733		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864733A>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.975A>G	8.37:g.22864733A>G						RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q	p.Q325Q	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1512	+		Prostate(55;0.0513)|Breast(100;0.214)	325			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.975A>G	CCDS6034.1																																																																																				0.652	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			84	286	0	0	0	1	0	84	286					G	22864733	A	G	22864733	2	3	79	1	0	0	0	0	0	0	0	1	13384	40	2	4		4	RHOBTB2	8	22864733	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86	22864733	123499289	9255	19572											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgggctgcaagataCtcacgatctcattgaggaca	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTGCAAGATACTCACGATCTC	0.547																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(829-831)aGt>aAt		tumor necrosis factor receptor superfamily, member 10b							97	89	92					8																	22884752		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22884752C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.830G>A	8.37:g.22884752C>T	ENSP00000276431:p.Ser277Asn					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N	p.S277N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	7	1114	-		Prostate(55;0.0421)|Breast(100;0.067)	277					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.830G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495734	0.12762	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.86769	-1.91;-2.17;2.71	2.5	-3.9	0.04181	.	7739.210000	0.00166	U	0.000000	T	0.77658	0.4163	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.33549	0.386;0.417;0.126;0.2;0.236	B;B;B;B;B	0.30782	0.075;0.052;0.038;0.12;0.031	T	0.62774	-0.6783	10	0.35671	T	0.21	.	0.879	0.01230	0.1718:0.2412:0.3395:0.2476	.	97;277;277;248;42	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	277;248;97	ENSP00000276431:S277N;ENSP00000317859:S248N;ENSP00000443386:S97N	ENSP00000276431:S277N	S	-	2	0	TNFRSF10B	22940697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.548000	0.02184	-1.047000	0.03242	-0.282000	0.10007	AGT		0.547	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		54	208	0	0	0	1	0	54	208					T	22884752	C	T	22884752	3	4	79	1	0	0	0	0	1	0	0	0	16333	565	20	2	504	2	TNFRSF10B	8	22884752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20019	22884752	123479270	9256	19573											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctgtctcaccctgtgCggcacttccggcacatctca	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCACCCTGTGCGGCACTTCCG	0.592																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(469-471)cGc>cAc		tumor necrosis factor receptor superfamily, member 10b							41	35	37					8																	22887129		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22887129C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.470G>A	8.37:g.22887129C>T	ENSP00000276431:p.Arg157His					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H	p.R157H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	4	754	-		Prostate(55;0.0421)|Breast(100;0.067)	157					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.470G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	9.154	1.017022	0.19355	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.31510	1.49;1.49;1.49	3.65	-4.47	0.03525	TNFR/CD27/30/40/95 cysteine-rich region (3);	3.140280	0.02103	U	0.054152	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.006;0.044;0.19;0.185	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.16571	-1.0398	10	0.48119	T	0.1	.	5.1719	0.15114	0.1396:0.2021:0.5525:0.1057	.	6;157;157;157	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	H	157;157;6	ENSP00000276431:R157H;ENSP00000317859:R157H;ENSP00000443386:R6H	ENSP00000276431:R157H	R	-	2	0	TNFRSF10B	22943074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.993000	0.00656	-0.682000	0.05197	-0.176000	0.13171	CGC		0.592	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		13	64	0	0	0	1	0	13	64					T	22887129	C	T	22887129	3	4	79	1	0	0	0	0	1	0	0	0	16333	768	27	1	876	1	TNFRSF10B	8	22887129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2377	22887129	123476893	9257	19574											
CHMP7	91782	broad.mit.edu	37	chr8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggaggtccttgtcGctgtggagctgttgaaggtg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	152					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(454-456)Gct>Act		charged multivesicular body protein 7							59	52	55					8																	23106877		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23106877G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.454G>A	8.37:g.23106877G>A	ENSP00000380794:p.Ala152Thr					CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1102	+		Prostate(55;0.0513)	152					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.454G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122858	0.20959	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57907	0.37;0.37	5.54	3.76	0.43208	.	0.246954	0.41500	D	0.000870	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P	0.42973	0.796	B	0.27076	0.076	T	0.10382	-1.0632	10	0.36615	T	0.2	-7.9022	4.5343	0.12020	0.2407:0.0:0.6043:0.1551	.	152	Q8WUX9	CHMP7_HUMAN	T	152	ENSP00000380794:A152T;ENSP00000324491:A152T	ENSP00000324491:A152T	A	+	1	0	CHMP7	23162822	1.000000	0.71417	0.167000	0.22817	0.905000	0.53344	4.750000	0.62162	0.718000	0.32166	-0.218000	0.12543	GCT		0.537	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		29	150	0	0	0	1	0	29	150					A	23106877	G	A	23106877	3	1	79	1	0	0	0	0	1	0	0	0	3370	1087	38	1	460	1	CHMP7	8	23106877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219748	23106877	123257145	9258	19575											
CHMP7	91782	broad.mit.edu	37	chr8	23117748	23117748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacaacccccgcaaTaggcattttaccaacagcgt	7	15	0	1	rs139217760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117748T>C	ENST00000397677.1	+	10	1860	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Silent_p.N404N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	404					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCCCCGCAATAGGCATTTTA	0.468																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1210-1212)aaT>aaC		charged multivesicular body protein 7		T		1,4405	2.1+/-5.4	0,1,2202	119	108	112		1212	4.6	0.1	8	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous	CHMP7	NM_152272.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		404/454	23117748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117748T>C	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1212T>C	8.37:g.23117748T>C						CHMP7_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	p.N404N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1860	+		Prostate(55;0.0513)	404					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.1212T>C	CCDS6040.1																																																																																				0.468	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		8	524	0	0	0	1	0	8	524					C	23117748	T	C	23117748	2	2	79	1	0	0	0	0	0	0	0	1	3370	1403	49	4		4	CHMP7	8	23117748	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10871	23117748	123246274	9259	19576											
CHMP7	91782	broad.mit.edu	37	chr8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccaacagcgtgcctaAccctaggatctcagatgctg	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	413					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.P412fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488																																						ENST00000397677.1																			1	Deletion - Frameshift(1)	p.P412fs*4(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1237-1239)aAc>aGc		charged multivesicular body protein 7							132	121	125					8																	23117774		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117774A>G	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1238A>G	8.37:g.23117774A>G	ENSP00000380794:p.Asn413Ser					CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1886	+		Prostate(55;0.0513)	413					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.1238A>G	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	4.748	0.139071	0.09083	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.44	-4.02	0.04034	.	1.434510	0.03399	N	0.203130	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.10064	-1.0646	10	0.10636	T	0.68	0.9774	3.5144	0.07719	0.3287:0.0:0.2761:0.3953	.	413	Q8WUX9	CHMP7_HUMAN	S	413	ENSP00000380794:N413S;ENSP00000324491:N413S	ENSP00000324491:N413S	N	+	2	0	CHMP7	23173719	0.019000	0.18553	0.839000	0.33178	0.990000	0.78478	0.070000	0.14573	-0.576000	0.05974	0.529000	0.55759	AAC		0.488	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		122	510	0	0	0	1	0	122	510					G	23117774	A	G	23117774	3	3	79	1	0	0	0	0	1	0	0	0	3370	43	2	4	1272	4	CHMP7	8	23117774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26	23117774	123246248	9260	19577											
LOXL2	4017	broad.mit.edu	37	chr8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggcactcccaaagcccaGctctctgcagaccacactgg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	367	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCAAAGCCCAGCTCTCTGCAG	0.627																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1099-1101)Ctg>Atg		lysyl oxidase-like 2							104	86	92					8																	23185946		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23185946G>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1099C>A	8.37:g.23185946G>T	ENSP00000373783:p.Leu367Met						p.L367M	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	6	1468	-		Prostate(55;0.0453)|Breast(100;0.143)	367			SRCR 3.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1099C>A	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538091|4.538091	0.85917|0.85917	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|.	0.56941|.	0.43|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.64687|.	0.928|.	T|T	0.79045|0.79045	-0.1964|-0.1964	10|5	0.62326|.	D|.	0.03|.	.|.	12.2427|12.2427	0.54553|0.54553	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	367|.	Q9Y4K0|.	LOXL2_HUMAN|.	M|R	367|83	ENSP00000373783:L367M|.	ENSP00000373783:L367M|.	L|S	-|-	1|3	2|2	LOXL2|LOXL2	23241891|23241891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.059000|4.059000	0.57470|0.57470	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CTG|AGC		0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			127	413	1	0	4.90586e-66	1	6.20583e-66	127	413					T	23185946	G	T	23185946	3	4	79	1	0	0	0	0	1	0	0	0	8938	962	34	3	1261	3	LOXL2	8	23185946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68172	23185946	123178076	9261	19578											
LOXL2	4017	broad.mit.edu	37	chr8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctccatcactggggtgCgcttgcggtaggttgagagg	16	10	1	1	rs369286803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	198	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACTGGGGTGCGCTTGCGGTA	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20913	0.001		0.0	False		,,,				2504	0.0					ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(592-594)cGc>cAc		lysyl oxidase-like 2							160	126	138					8																	23198655		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23198655C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.593G>A	8.37:g.23198655C>T	ENSP00000373783:p.Arg198His					RP11-177H13.2_ENST00000519692.1_RNA	p.R198H	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	4	962	-		Prostate(55;0.0453)|Breast(100;0.143)	198			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.593G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000134013	ENST00000389131	T	0.01258	5.09	5.68	4.81	0.61882	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.051494	0.85682	D	0.000000	T	0.02688	0.0081	M	0.66439	2.03	0.80722	D	1	B	0.33288	0.406	B	0.35240	0.198	T	0.54262	-0.8320	10	0.36615	T	0.2	.	11.5499	0.50715	0.0:0.9169:0.0:0.0831	.	198	Q9Y4K0	LOXL2_HUMAN	H	198	ENSP00000373783:R198H	ENSP00000373783:R198H	R	-	2	0	LOXL2	23254600	1.000000	0.71417	0.662000	0.29724	0.110000	0.19582	6.007000	0.70731	1.400000	0.46741	0.655000	0.94253	CGC		0.572	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			100	487	0	0	0	1	0	100	487					T	23198655	C	T	23198655	3	4	79	1	0	0	0	0	1	0	0	0	8938	768	27	1	1775	1	LOXL2	8	23198655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12709	23198655	123165367	9262	19579											
LOXL2	4017	broad.mit.edu	37	chr8	23217627	23217627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggttgatcaacgaattGtcaaatttgaacccaggaat	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	169					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCAACGAATTGTCAAATTTGA	0.478																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(505-507)gaC>gaT		lysyl oxidase-like 2							119	105	110					8																	23217627		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23217627G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.507C>T	8.37:g.23217627G>A						RP11-177H13.2_ENST00000519692.1_RNA	p.D169D	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	3	876	-		Prostate(55;0.0453)|Breast(100;0.143)	169					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.507C>T	CCDS34864.1																																																																																				0.478	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			42	289	0	0	0	1	0	42	289					A	23217627	G	A	23217627	2	1	79	1	0	0	0	0	0	0	0	1	8938	1368	48	2		2	LOXL2	8	23217627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18972	23217627	123146395	9263	19580											
ENTPD4	9583	broad.mit.edu	37	chr8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctctgcagcaaagTtcaaaagtggagaaatgtaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	158					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(472-474)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 4							116	118	117					8																	23302059		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23302059T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.473A>G	8.37:g.23302059T>C	ENSP00000351520:p.Asn158Ser					ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S|ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S	p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	5	708	-		Prostate(55;0.114)	158					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.473A>G	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154725	0.06544	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.79	0.318	0.15867	.	0.342519	0.40554	N	0.001071	T	0.02649	0.0080	N	0.00991	-1.07	0.23969	N	0.996317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.46775	-0.9167	10	0.07482	T	0.82	-13.5026	10.1041	0.42521	0.0:0.3229:0.0:0.6771	.	158;158;158;158	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	S	158;158;158;124	ENSP00000348536:N158S;ENSP00000351520:N158S;ENSP00000408573:N158S;ENSP00000429455:N124S	ENSP00000348536:N158S	N	-	2	0	ENTPD4	23358004	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	0.624000	0.24462	0.126000	0.18424	0.460000	0.39030	AAC		0.438	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		90	330	0	0	0	1	0	90	330					C	23302059	T	C	23302059	3	2	79	1	0	0	0	0	1	0	0	0	5159	1725	60	4	1413	4	ENTPD4	8	23302059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84432	23302059	123061963	9264	19581											
ENTPD4	9583	broad.mit.edu	37	chr8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcggtaactcgtgccaGgtaccttgtatagaaacaca	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	71					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(211-213)Ctg>Atg		ectonucleoside triphosphate diphosphohydrolase 4							165	126	140					8																	23305394		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23305394G>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.211C>A	8.37:g.23305394G>T	ENSP00000351520:p.Leu71Met					ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M|ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M	p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	4	446	-		Prostate(55;0.114)	71					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.211C>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959102	0.53400	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.16457	2.34;2.35;2.36	5.81	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.59436	1.845	0.49213	D	0.999767	D;D;D;D	0.71674	0.997;0.992;0.998;0.997	D;D;D;D	0.74674	0.965;0.945;0.984;0.973	T	0.01205	-1.1419	10	0.38643	T	0.18	-15.7581	8.388	0.32512	0.4174:0.0:0.5826:0.0	.	71;71;71;71	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	M	71;71;71;37	ENSP00000348536:L71M;ENSP00000351520:L71M;ENSP00000408573:L71M	ENSP00000348536:L71M	L	-	1	2	ENTPD4	23361339	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	0.772000	0.26647	0.127000	0.18452	-0.781000	0.03364	CTG		0.418	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		41	363	1	0	2.2871e-25	1	2.62398e-25	41	363					T	23305394	G	T	23305394	3	4	79	1	0	0	0	0	1	0	0	0	5159	991	35	3	1679	3	ENTPD4	8	23305394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	23305394	123058628	9265	19582											
STC1	6781	broad.mit.edu	37	chr8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgttggcgatgcattttaaGctctctttgacgaatgcttt	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000290271.2	-	3	568	c.285C>A	c.(283-285)agC>agA	p.S95R	STC1_ENST00000524323.1_Missense_Mutation_p.S26R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	95					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502																																						ENST00000290271.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(283-285)agC>agA		stanniocalcin 1							114	100	105					8																	23709021		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709021G>T		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.285C>A	8.37:g.23709021G>T	ENSP00000290271:p.Ser95Arg					STC1_ENST00000524323.1_Missense_Mutation_p.S26R	p.S95R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	568	-		Prostate(55;0.055)|Breast(100;0.116)	95					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.285C>A	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141956	0.77775	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	3.95	0.45737	.	0.034660	0.85682	D	0.000000	T	0.66046	0.2750	L	0.51914	1.62	0.58432	D	0.999996	D	0.67145	0.996	P	0.62491	0.903	T	0.68857	-0.5298	9	0.72032	D	0.01	-3.9207	11.4007	0.49868	0.1487:0.0:0.8513:0.0	.	95	P52823	STC1_HUMAN	R	95;26;26	.	ENSP00000290271:S95R	S	-	3	2	STC1	23764966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	1.446000	0.47643	0.655000	0.94253	AGC		0.502	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			45	200	1	0	5.44703e-19	1	6.0629e-19	45	200					T	23709021	G	T	23709021	3	4	79	1	0	0	0	0	1	0	0	0	15327	962	34	3	466	3	STC1	8	23709021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403627	23709021	122655001	9266	19583											
ADAM28	10863	broad.mit.edu	37	chr8	24181515	24181515	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatattgctcagttaatcAcgtatgtacagattttctcc	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|ADAM28_ENST00000540823.1_Splice_Site_p.T64P|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAGTTAATCACGTATGTACA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		ADAM metallopeptidase domain 28							100	101	100					8																	24181515		2202	4298	6500	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181515A>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1A>C	8.37:g.24181515A>C						ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Splice_Site_p.T64_splice|ADAM28_ENST00000397649.3_Splice_Site_p.T44_splice|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.T297_splice	p.T297_splice	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	999	+		Prostate(55;0.0959)	297			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	37	c.890_splice	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417484	0.62622	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.17	4.0	0.46444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.45895	0.1365	H	0.96805	3.885	0.58432	D	0.99999	D;D;D	0.69078	0.99;0.997;0.987	D;D;P	0.68039	0.93;0.955;0.886	T	0.52403	-0.8580	9	0.87932	D	0	.	7.4466	0.27215	0.758:0.0:0.0:0.242	.	64;297;297	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	P	297;44;64;297	ENSP00000265769:T297P;ENSP00000380770:T44P;ENSP00000443743:T64P;ENSP00000393699:T297P	ENSP00000265769:T297P	T	+	1	0	ADAM28	24237460	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.571000	0.53841	0.780000	0.33566	0.528000	0.53228	ACA		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Missense_Mutation	50	238	0	0	0	1	0	50	238					C	24181515	A	C	24181515	5	2	79	1	0	0	0	0	0	0	1	0	246	173	6	4	923	4	ADAM28	8	24181515	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	472494	24181515	122182507	9267	19584											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaaacaaggcccaattCgaatctctagatcactcaaa	7	11	3	1	rs376286647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000256412.4	+	6	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(361-363)Cga>Tga		ADAM-like, decysin 1							180	175	176					8																	24254940		2203	4300	6503	SO:0001587	stop_gained	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254940C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.598C>T	8.37:g.24254940C>T	ENSP00000256412:p.Arg200*					ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	p.R121*	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	908	+		Prostate(55;0.0181)	200		M -> T (in dbSNP:rs7007084).			B7ZAK5	Nonsense_Mutation	SNP	ENST00000256412.4	37	c.361C>T	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349813	0.95830	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	.	.	.	5.53	4.63	0.57726	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.4743	11.5455	0.50690	0.1789:0.8211:0.0:0.0	.	.	.	.	X	200;121;121	.	ENSP00000256412:R200X	R	+	1	2	ADAMDEC1	24310885	0.910000	0.30920	0.080000	0.20451	0.010000	0.07245	1.631000	0.37092	1.297000	0.44761	0.557000	0.71058	CGA		0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		143	618	0	0	0	1	0	143	618					T	24254940	C	T	24254940	4	4	79	1	0	0	0	0	0	1	0	0	254	876	31	1	620	1	ADAMDEC1	8	24254940	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73425	24254940	122109082	9268	19585											
ADAM7	8756	broad.mit.edu	37	chr8	24342814	24342814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctctactcacatgtGcaaggaatttcttatccagg	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V300V|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V300V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353																																						ENST00000175238.6																			1	Substitution - coding silent(1)	p.V300V(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(898-900)gtG>gtA		ADAM metallopeptidase domain 7							153	147	149					8																	24342814		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24342814G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.900G>A	8.37:g.24342814G>A						ADAM7_ENST00000380789.1_Silent_p.V300V|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.V300V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	10	983	+		Prostate(55;0.0181)	300			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.900G>A	CCDS6045.1																																																																																				0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		81	479	0	0	0	1	0	81	479					A	24342814	G	A	24342814	2	1	79	1	0	0	0	0	0	0	0	1	251	1306	46	2		2	ADAM7	8	24342814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87874	24342814	122021208	9269	19586											
ADAM7	8756	broad.mit.edu	37	chr8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataccaccagtacttgaagGattataagccaacatgcatg	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1150-1152)Gat>Aat		ADAM metallopeptidase domain 7							156	134	141					8																	24346730		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24346730G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1150G>A	8.37:g.24346730G>A	ENSP00000175238:p.Asp384Asn					ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.D384N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	12	1233	+		Prostate(55;0.0181)	384			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1150G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248736	0.22880	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.62364	0.03;0.03;0.03	5.74	1.98	0.26296	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.38692	0.1050	N	0.11892	0.195	0.09310	N	1	B;B	0.25048	0.046;0.117	B;B	0.31812	0.027;0.136	T	0.30090	-0.9990	10	0.09338	T	0.73	.	8.2486	0.31704	0.3886:0.0:0.6114:0.0	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	384;384;156;199	ENSP00000175238:D384N;ENSP00000370166:D384N;ENSP00000430400:D156N	ENSP00000175238:D384N	D	+	1	0	ADAM7	24402620	0.011000	0.17503	0.008000	0.14137	0.007000	0.05969	0.470000	0.22084	0.079000	0.16929	-0.136000	0.14681	GAT		0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		48	279	0	0	0	1	0	48	279					A	24346730	G	A	24346730	3	1	79	1	0	0	0	0	1	0	0	0	251	1174	41	2	1196	2	ADAM7	8	24346730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3916	24346730	122017292	9270	19587											
NEFM	4741	broad.mit.edu	37	chr8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccaggccgaagagtggTtcaaatgccgctacgccaag	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	292	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAAGAGTGGTTCAAATGCCG	0.597																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(874-876)Ttc>Ctc		neurofilament, medium polypeptide							103	85	91					8																	24772180		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772180T>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.874T>C	8.37:g.24772180T>C	ENSP00000221166:p.Phe292Leu					NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR	p.F292L			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1656	+		Prostate(55;0.157)	292			Coil 2B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.874T>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079353	0.94050	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91295	-2.82;-2.82;-2.82	4.69	4.69	0.59074	Filament (1);	0.000000	0.45361	D	0.000378	D	0.95092	0.8410	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95728	0.8772	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	292;292	E7EMV2;P07197	.;NFM_HUMAN	L	292	ENSP00000221166:F292L;ENSP00000427872:F292L;ENSP00000410137:F292L	ENSP00000221166:F292L	F	+	1	0	NEFM	24828085	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.984000	0.88150	1.873000	0.54277	0.383000	0.25322	TTC		0.597	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		19	258	0	0	0	1	0	19	258					C	24772180	T	C	24772180	3	2	79	1	0	0	0	0	1	0	0	0	10358	1725	60	4	876	4	NEFM	8	24772180	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	425450	24772180	121591842	9271	19588											
NEFL	4747	broad.mit.edu	37	chr8	24813446	24813446	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtcggcgcctttgcgcGcttccatcagccggccctcg	11	19	1	0	rs185200977	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813446G>A	ENST00000221169.5	-	0	1178				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCTTTGCGCGCTTCCATCAG	0.652													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		16235	0.0		0.0	False		,,,				2504	0.0					ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide		G	VAL/ALA	30,3798		0,30,1884	16	17	17		584	5.8	1	8		17	4,8200		0,4,4098	yes	missense	NEFL	NM_006158.3	64	0,34,5982	AA,AG,GG		0.0488,0.7837,0.2826	benign	195/544	24813446	34,11998	1914	4102	6016			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813446G>A		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813446G>A										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1178	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.652	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		40	154	0	0	0	1	0	40	154					A	24813446	G	A	24813446	1	1	79	0	1	0	0	0	0	0	0	0	10357	1087	38	1		1	NEFL	8	24813446	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41266	24813446	121550576	9272	19589											
NEFL	4747	broad.mit.edu	37	chr8	24813505	24813505	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcttcatagcgcgcCtgcaggttgcgcagggtctc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	ENST00000221169.5	-	0	1119				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CATAGCGCGCCTGCAGGTTGC	0.716																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							12	13	12					8																	24813505		1986	4139	6125			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813505C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813505C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1119	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.716	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		24	120	0	0	0	1	0	24	120					T	24813505	C	T	24813505	1	4	79	0	1	0	0	0	0	0	0	0	10357	680	24	2		2	NEFL	8	24813505	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	24813505	121550517	9273	19590											
DOCK5	80005	broad.mit.edu	37	chr8	25183050	25183050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcatctgctccacaaaGctcacccagaatggtaggag	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	630					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCCACAAAGCTCACCCAGA	0.478																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1888-1890)aaG>aaA		dedicator of cytokinesis 5							108	95	99					8																	25183050		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25183050G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1890G>A	8.37:g.25183050G>A							p.K630K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	1934	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	630			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.1890G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043369	0.19748	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	2.62	0.31277	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	.	11.7724	0.51967	0.2787:0.0:0.7213:0.0	.	.	.	.	T	402	.	.	A	+	1	0	DOCK5	25238967	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.541000	0.23207	0.803000	0.34113	0.655000	0.94253	GCT		0.478	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		57	271	0	0	0	1	0	57	271					A	25183050	G	A	25183050	2	1	79	1	0	0	0	0	0	0	0	1	4706	962	34	2		2	DOCK5	8	25183050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369545	25183050	121180972	9274	19591											
DOCK5	80005	broad.mit.edu	37	chr8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctatgtggctaatgcagatGactccagcaagactgaactg	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	746					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAATGCAGATGACTCCAGCAA	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2236-2238)Gac>Aac		dedicator of cytokinesis 5							106	98	101					8																	25193798		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25193798G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2236G>A	8.37:g.25193798G>A	ENSP00000276440:p.Asp746Asn						p.D746N	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	22	2280	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	746					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2236G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374598	0.42105	.	.	ENSG00000147459	ENST00000276440	T	0.22336	1.96	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100113	0.64402	D	0.000002	T	0.30479	0.0766	M	0.71036	2.16	0.80722	D	1	B;B;B	0.30179	0.006;0.271;0.006	B;B;B	0.30716	0.004;0.119;0.004	T	0.03095	-1.1073	10	0.39692	T	0.17	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	736;521;746	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	N	746	ENSP00000276440:D746N	ENSP00000276440:D746N	D	+	1	0	DOCK5	25249715	1.000000	0.71417	0.969000	0.41365	0.320000	0.28249	6.701000	0.74624	2.879000	0.98667	0.650000	0.86243	GAC		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		26	146	0	0	0	1	0	26	146					A	25193798	G	A	25193798	3	1	79	1	0	0	0	0	1	0	0	0	4706	1290	45	2	2322	2	DOCK5	8	25193798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10748	25193798	121170224	9275	19592											
DOCK5	80005	broad.mit.edu	37	chr8	25246651	25246651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtatgagaggcgagaGgacttcagcctgaggttgtt	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1392	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGGCGAGAGGACTTCAGCC	0.502																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4174-4176)gaG>gaA		dedicator of cytokinesis 5							122	106	112					8																	25246651		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246651G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4176G>A	8.37:g.25246651G>A							p.E1392E	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4220	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1392			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4176G>A	CCDS6047.1																																																																																				0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		68	245	0	0	0	1	0	68	245					A	25246651	G	A	25246651	2	1	79	1	0	0	0	0	0	0	0	1	4706	991	35	2		2	DOCK5	8	25246651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52853	25246651	121117371	9276	19593											
GNRH1	2796	broad.mit.edu	37	chr8	25280756	25280756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctctttcctccagggcGcagtccataggaccagtgct	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	ENST00000276414.4	-	1	1414	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C|RP11-395I14.2_ENST00000523840.1_lincRNA	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	31			R -> C (in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1). {ECO:0000269|PubMed:23643382}.		cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CCTCCAGGGCGCAGTCCATAG	0.433																																						ENST00000276414.4																			0				large_intestine(1)	1						c.(91-93)Cgc>Tgc		gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)							100	101	100					8																	25280756		1866	4101	5967	SO:0001583	missense	2796				cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity	g.chr8:25280756G>A	X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"Endogenous ligands"	4419	protein-coding gene	gene with protein product		152760	"gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.91C>T	8.37:g.25280756G>A	ENSP00000276414:p.Arg31Cys					GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C	p.R31C	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)	1	1414	-		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)	31					A0AVP0	Missense_Mutation	SNP	ENST00000276414.4	37	c.91C>T	CCDS43725.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757146	0.49468	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	Gonadotropin-releasing hormone (2);	0.179711	0.39210	N	0.001430	T	0.70168	0.3193	.	.	.	0.51482	D	0.999924	D	0.89917	1.0	D	0.73380	0.98	T	0.73855	-0.3851	9	0.87932	D	0	-20.4773	17.8458	0.88730	0.0:0.0:1.0:0.0	.	31	P01148	GON1_HUMAN	C	31	ENSP00000391280:R31C;ENSP00000276414:R31C	ENSP00000276414:R31C	R	-	1	0	GNRH1	25336673	1.000000	0.71417	0.983000	0.44433	0.001000	0.01503	5.208000	0.65203	2.686000	0.91538	0.655000	0.94253	CGC		0.433	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375982.1	NM_001083111		17	498	0	0	0	1	0	17	498					A	25280756	G	A	25280756	3	1	79	1	0	0	0	0	1	0	0	0	6576	1087	38	1	199	1	GNRH1	8	25280756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34105	25280756	121083266	9277	19594											
KCTD9	54793	broad.mit.edu	37	chr8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaacgagaaagatcagcacCactgaagttcaaaccctgaa	7	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	227					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGATCAGCACCACTGAAGTTC	0.348																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(679-681)Ggt>Tgt		potassium channel tetramerization domain containing 9							72	69	70					8																	25293013		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25293013C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.679G>T	8.37:g.25293013C>A	ENSP00000221200:p.Gly227Cys						p.G227C	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	9	899	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	227					Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.679G>T	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885195	0.91814	.	.	ENSG00000104756	ENST00000221200	T	0.51817	0.69	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.77075	0.4077	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	227	Q7L273	KCTD9_HUMAN	C	227	ENSP00000221200:G227C	ENSP00000221200:G227C	G	-	1	0	KCTD9	25348930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GGT		0.348	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		15	226	1	0	9.16793e-09	1	9.60025e-09	15	226					A	25293013	C	A	25293013	3	1	79	1	0	0	0	0	1	0	0	0	8146	594	21	3	506	3	KCTD9	8	25293013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12257	25293013	121071009	9278	19595											
CDCA2	157313	broad.mit.edu	37	chr8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccccaagacctttgtacttCgttctgtactgaagaaaccc	6	14	1	3	rs371312809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458																																						ENST00000330560.3																			1	Substitution - Missense(1)	p.R328C(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(982-984)Cgt>Tgt		cell division cycle associated 2		C	CYS/ARG	0,4406		0,0,2203	112	99	103		982	5.3	1	8		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCA2	NM_152562.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/1024	25337590	1,13005	2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25337590C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.982C>T	8.37:g.25337590C>T	ENSP00000328228:p.Arg328Cys					CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	p.R328C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	8	1459	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	328					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.982C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	CDCA2	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT		0.458	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		49	198	0	0	0	1	0	49	198					T	25337590	C	T	25337590	3	4	79	1	0	0	0	0	1	0	0	0	3095	884	31	1	1008	1	CDCA2	8	25337590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44577	25337590	121026432	9279	19596											
CDCA2	157313	broad.mit.edu	37	chr8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaataaaaatattccaaaaGcaaaaaataagtcagaaagt	4	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	694					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2080-2082)Gca>Aca		cell division cycle associated 2							32	34	33					8																	25364262		2194	4296	6490	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364262G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2080G>A	8.37:g.25364262G>A	ENSP00000328228:p.Ala694Thr					CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T|CDCA2_ENST00000521098.2_3'UTR	p.A694T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2557	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	694					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2080G>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	4.63	3.75	0.43078	.	0.677027	0.14755	N	0.300370	T	0.38931	0.1059	L	0.48642	1.525	0.20975	N	0.999814	P;P	0.46912	0.886;0.886	P;P	0.44673	0.457;0.457	T	0.18429	-1.0337	10	0.49607	T	0.09	-8.0648	8.8171	0.35002	0.1032:0.0:0.8968:0.0	.	679;694	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	694;679;93	ENSP00000328228:A694T;ENSP00000370040:A679T	ENSP00000328228:A694T	A	+	1	0	CDCA2	25420179	0.128000	0.22383	0.589000	0.28718	0.117000	0.20001	1.297000	0.33400	1.323000	0.45263	0.650000	0.86243	GCA		0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		49	204	0	0	0	1	0	49	204					A	25364262	G	A	25364262	3	1	79	1	0	0	0	0	1	0	0	0	3095	971	34	2	2134	2	CDCA2	8	25364262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26672	25364262	120999760	9280	19597											
PPP2R2A	5520	broad.mit.edu	37	chr8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggaatgatattcagTggtgtttttctcaggtgaaa	14	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	12					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGATATTCAGTGGTGTTTTTC	0.368																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(34-36)Tgg>Cgg		protein phosphatase 2, regulatory subunit B, alpha							163	156	158					8																	26151208		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26151208T>C	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.34T>C	8.37:g.26151208T>C	ENSP00000370113:p.Trp12Arg					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R|PPP2R2A_ENST00000523473.1_3'UTR	p.W12R	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	2	363	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.34T>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326202	0.41197	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42131	1.0;0.98	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000001	T	0.71426	0.3338	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.98	T	0.78661	-0.2117	10	0.72032	D	0.01	-13.4676	14.9406	0.70992	0.0:0.0:0.0:1.0	.	22;12	B4E1T7;P63151	.;2ABA_HUMAN	R	12;22	ENSP00000370113:W12R;ENSP00000325074:W22R	ENSP00000325074:W22R	W	+	1	0	PPP2R2A	26207125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.162000	0.67917	0.460000	0.39030	TGG		0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		61	275	0	0	0	1	0	61	275					C	26151208	T	C	26151208	3	2	79	1	0	0	0	0	1	0	0	0	12431	1696	59	4	81	4	PPP2R2A	8	26151208	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	786946	26151208	120212814	9281	19598											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctgtgcaagtggcaaGcgaaagaaagatgaaataag	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	402					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CAAGTGGCAAGCGAAAGAAAG	0.448																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(1204-1206)aaG>aaT		protein phosphatase 2, regulatory subunit B, alpha							80	79	79					8																	26227791		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26227791G>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1206G>T	8.37:g.26227791G>T	ENSP00000370113:p.Lys402Asn					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	p.K402N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1535	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.1206G>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978364	0.53720	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.47528	1.46;0.84;1.45	5.25	4.37	0.52481	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	M	0.86028	2.79	0.58432	D	0.999999	P;B;D	0.60575	0.885;0.182;0.988	B;B;D	0.65233	0.365;0.032;0.933	T	0.70988	-0.4722	10	0.59425	D	0.04	-20.1387	12.1547	0.54070	0.1307:0.0:0.8693:0.0	.	412;402;403	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	402;181;412	ENSP00000370113:K402N;ENSP00000430320:K181N;ENSP00000325074:K412N	ENSP00000325074:K412N	K	+	3	2	PPP2R2A	26283708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.670000	0.37502	2.885000	0.99019	0.655000	0.94253	AAG		0.448	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		12	165	1	0	6.40141e-05	1	6.5221e-05	12	165					T	26227791	G	T	26227791	3	4	79	1	0	0	0	0	1	0	0	0	12431	962	34	3	1285	3	PPP2R2A	8	26227791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76583	26227791	120136231	9282	19599											
BNIP3L	665	broad.mit.edu	37	chr8	26265551	26265551	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagaaggagagaaggaagtCgaggctttgaagaaaagtgc	16	3	0	4	rs201574024		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26265551C>T	ENST00000380629.2	+	4	626	c.393C>T	c.(391-393)gtC>gtT	p.V131V	BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000523515.1_Silent_p.V91V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	131					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		AGAAGGAAGTCGAGGCTTTGA	0.403																																						ENST00000380629.2																			0				large_intestine(3)|lung(1)	4						c.(391-393)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 3-like							97	91	93					8																	26265551		2203	4300	6503	SO:0001819	synonymous_variant	665				apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:26265551C>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"BCL2/adenovirus E1B 19kD-interacting protein 3-like"			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.393C>T	8.37:g.26265551C>T						BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000518611.1_Silent_p.V91V	p.V131V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)	4	626	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	131					B0AZS9|Q5JW63|Q8NF87	Silent	SNP	ENST00000380629.2	37	c.393C>T	CCDS6050.1																																																																																				0.403	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		7	265	0	0	0	1	0	7	265					T	26265551	C	T	26265551	2	4	79	1	0	0	0	0	0	0	0	1	1481	871	31	1		1	BNIP3L	8	26265551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37760	26265551	120098471	9283	19600											
PNMA2	10687	broad.mit.edu	37	chr8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcgtctccctcatgaTtccagcggccatagccatct	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	359					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(1075-1077)aAt>aCt		paraneoplastic Ma antigen 2							101	103	102					8																	26365196		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365196T>G		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1076A>C	8.37:g.26365196T>G	ENSP00000429344:p.Asn359Thr						p.N359T	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1970	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	359					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.1076A>C	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238753	0.22711	.	.	ENSG00000240694	ENST00000522362	T	0.08634	3.07	4.32	0.602	0.17535	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39396	-0.9616	9	0.62326	D	0.03	-3.4143	2.7839	0.05368	0.218:0.2161:0.0:0.566	.	359	Q9UL42	PNMA2_HUMAN	T	359	ENSP00000429344:N359T	ENSP00000429344:N359T	N	-	2	0	PNMA2	26421113	0.077000	0.21312	0.091000	0.20842	0.009000	0.06853	0.103000	0.15292	0.101000	0.17610	0.533000	0.62120	AAT		0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		132	622	0	0	0	1	0	132	622					G	26365196	T	G	26365196	3	3	79	1	0	0	0	0	1	0	0	0	12196	1493	52	4	22	4	PNMA2	8	26365196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	99645	26365196	119998826	9284	19601											
DPYSL2	1808	broad.mit.edu	37	chr8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcgtgccatcaccatcGccaaccagaccaactgcccg	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.A243T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582																																						ENST00000311151.5																			1	Substitution - Missense(1)	p.A243T(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(727-729)Gcc>Acc		dihydropyrimidinase-like 2							150	121	131					8																	26492332		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492332G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.727G>A	8.37:g.26492332G>A	ENSP00000309539:p.Ala243Thr					DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	p.A243T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	8	1139	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	243					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.727G>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	DPYSL2	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC		0.582	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		94	415	0	0	0	1	0	94	415					A	26492332	G	A	26492332	3	1	79	1	0	0	0	0	1	0	0	0	4763	1087	38	1	757	1	DPYSL2	8	26492332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127136	26492332	119871690	9285	19602											
TRIM35	23087	broad.mit.edu	37	chr8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtacaggtggcagtggCgctccgcgtcatagaaagac	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1336-1338)cGc>cAc		tripartite motif containing 35																																				SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145212C>T	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1337G>A	8.37:g.27145212C>T	ENSP00000301924:p.Arg446His						p.R446H	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1420	-		Ovarian(32;2.61e-05)	446			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.1337G>A	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527742	0.44969	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61392	0.11	5.23	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.338941	0.29572	N	0.011771	T	0.48537	0.1505	L	0.48986	1.54	0.21627	N	0.999612	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.66056	D	0.02	.	7.9606	0.30068	0.0:0.8115:0.0:0.1885	.	446	Q9UPQ4	TRI35_HUMAN	H	446	ENSP00000301924:R446H	ENSP00000301924:R446H	R	-	2	0	TRIM35	27201129	0.000000	0.05858	0.854000	0.33618	0.525000	0.34531	0.002000	0.13061	0.607000	0.29982	0.462000	0.41574	CGC		0.687	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		16	54	0	0	0	1	0	16	54					T	27145212	C	T	27145212	3	4	79	1	0	0	0	0	1	0	0	0	16562	768	27	1	148	1	TRIM35	8	27145212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652880	27145212	119218810	9286	19603											
PTK2B	2185	broad.mit.edu	37	chr8	27315813	27315813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtgatcttcctacagatCgagggcacccagaaactgct	10	11	1	3	rs530386451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000544172.1_Silent_p.I939I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCCTACAGATCGAGGGCACCC	0.557																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2815-2817)atC>atT		protein tyrosine kinase 2 beta							62	49	54					8																	27315813		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27315813C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2817C>T	8.37:g.27315813C>T						PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000544172.1_Silent_p.I939I	p.I939I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	36	3625	+		Ovarian(32;2.72e-05)	939			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2817C>T	CCDS6057.1																																																																																				0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		20	100	0	0	0	1	0	20	100					T	27315813	C	T	27315813	2	4	79	1	0	0	0	0	0	0	0	1	12811	874	31	1		1	PTK2B	8	27315813	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170601	27315813	119048209	9287	19604											
CHRNA2	1135	broad.mit.edu	37	chr8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggggtggcagagctccaCgggtggtgggggccggttca	21	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000520933.2	-	5	1312	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	387					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CAGAGCTCCACGGGTGGTGGG	0.682																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1159-1161)Gtg>Atg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						49	48	48					8																	27320801		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27320801C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1159G>A	8.37:g.27320801C>T	ENSP00000429616:p.Val387Met					CHRNA2_ENST00000520933.2_Missense_Mutation_p.V387M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M	p.V387M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1767	-		Ovarian(32;2.61e-05)	387					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.1159G>A	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516690	0.27123	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	-4.23	0.03789	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.830630	0.02479	N	0.088260	T	0.70237	0.3201	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.006	B;B	0.23419	0.046;0.017	T	0.55774	-0.8088	10	0.39692	T	0.17	.	2.1659	0.03837	0.2773:0.3281:0.2811:0.1135	.	372;387	B4DK19;Q15822	.;ACHA2_HUMAN	M	387;387;372	ENSP00000385026:V387M;ENSP00000429616:V387M;ENSP00000240132:V372M	ENSP00000240132:V372M	V	-	1	0	CHRNA2	27376718	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	-2.291000	0.01147	-1.026000	0.03330	-0.363000	0.07495	GTG		0.682	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			64	255	0	0	0	1	0	64	255					T	27320801	C	T	27320801	3	4	79	1	0	0	0	0	1	0	0	0	3392	536	19	1	438	1	CHRNA2	8	27320801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4988	27320801	119043221	9288	19605											
CHRNA2	1135	broad.mit.edu	37	chr8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacatcgatgagctgagCgatggacagtccaaagcgca	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000520933.2	-	2	430	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	93					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ATGAGCTGAGCGATGGACAGT	0.632																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(277-279)Gct>Act		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						133	114	121					8																	27327295		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327295C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.277G>A	8.37:g.27327295C>T	ENSP00000429616:p.Ala93Thr					CHRNA2_ENST00000520933.2_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron	p.A93T	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	885	-		Ovarian(32;2.61e-05)	93					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.277G>A	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283043	0.80803	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78481	-1.18;-1.18;-1.18	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101921	0.64402	D	0.000002	T	0.65585	0.2705	N	0.17723	0.515	0.58432	D	0.999999	P	0.47034	0.889	B	0.40782	0.34	T	0.68606	-0.5364	10	0.39692	T	0.17	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	93	Q15822	ACHA2_HUMAN	T	93	ENSP00000385026:A93T;ENSP00000429616:A93T;ENSP00000430422:A93T	ENSP00000385026:A93T	A	-	1	0	CHRNA2	27383212	0.992000	0.36948	0.914000	0.36105	0.807000	0.45602	3.017000	0.49615	2.653000	0.90120	0.561000	0.74099	GCT		0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			115	609	0	0	0	1	0	115	609					T	27327295	C	T	27327295	3	4	79	1	0	0	0	0	1	0	0	0	3392	768	27	1	1332	1	CHRNA2	8	27327295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6494	27327295	119036727	9289	19606											
CLU	1191	broad.mit.edu	37	chr8	27462673	27462673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtaggtatcctggggCtcccgggtgaagaacctgtc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000560366.1_Silent_p.E251E			P10909	CLUS_HUMAN	clusterin	199					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TATCCTGGGGCTCCCGGGTGA	0.607																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(595-597)gaG>gaA		clusterin							88	81	83					8																	27462673		2203	4300	6503	SO:0001819	synonymous_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27462673C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.597G>A	8.37:g.27462673C>T						CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000560366.1_Silent_p.E251E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000405140.3_Silent_p.E199E	p.E199E			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	5	1002	-		Ovarian(32;2.61e-05)	199					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.597G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114995	0.06881	.	.	ENSG00000120885	ENST00000522098	.	.	.	4.96	3.02	0.34903	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-11.4326	7.7861	0.29093	0.0:0.7189:0.1797:0.1015	.	.	.	.	T	62	.	.	A	-	1	0	CLU	27518590	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.089000	0.15002	1.079000	0.41038	0.563000	0.77884	GCC		0.607	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		27	267	0	0	0	1	0	27	267					T	27462673	C	T	27462673	2	4	79	1	0	0	0	0	0	0	0	1	3577	796	28	2		2	CLU	8	27462673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135378	27462673	118901349	9290	19607											
SCARA3	51435	broad.mit.edu	37	chr8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgaagacatctccttgAcccagtctatttatgacaag	6	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	90					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(268-270)Acc>Gcc		scavenger receptor class A, member 3							120	111	114					8																	27514340		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27514340A>G	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.268A>G	8.37:g.27514340A>G	ENSP00000301904:p.Thr90Ala					SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	4	288	+		Ovarian(32;2.61e-05)	90					Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.268A>G	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482141	0.12581	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90444	2.63;-2.67	5.81	2.65	0.31530	.	0.369337	0.26119	N	0.026238	T	0.78534	0.4298	N	0.24115	0.695	0.22424	N	0.999119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59500	-0.7443	10	0.17369	T	0.5	-11.845	2.8434	0.05536	0.3555:0.0:0.4459:0.1986	.	90;90	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	A	90	ENSP00000337985:T90A;ENSP00000301904:T90A	ENSP00000301904:T90A	T	+	1	0	SCARA3	27570259	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.245000	0.32790	0.788000	0.33755	-0.242000	0.12053	ACC		0.468	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		86	441	0	0	0	1	0	86	441					G	27514340	A	G	27514340	3	3	79	1	0	0	0	0	1	0	0	0	13929	275	10	4	282	4	SCARA3	8	27514340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51667	27514340	118849682	9291	19608											
CCDC25	55246	broad.mit.edu	37	chr8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcattcctctcttcacGatctctgcattctttctctg	3	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	153						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403																																						ENST00000356537.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(457-459)Cgt>Tgt		coiled-coil domain containing 25							128	124	126					8																	27605688		2203	4300	6503	SO:0001583	missense	55246							g.chr8:27605688G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.457C>T	8.37:g.27605688G>A	ENSP00000348933:p.Arg153Cys					CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C	p.R153C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	550	-		Ovarian(32;0.000953)	153					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.457C>T	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481698	0.44147	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.37	5.37	0.77165	.	0.205907	0.40469	N	0.001099	T	0.59514	0.2199	L	0.52823	1.66	0.53688	D	0.999978	B	0.14012	0.009	B	0.06405	0.002	T	0.56655	-0.7943	9	0.48119	T	0.1	-0.3323	16.5983	0.84802	0.0:0.0:1.0:0.0	.	153	Q86WR0	CCD25_HUMAN	C	153;85;85	.	ENSP00000348933:R153C	R	-	1	0	CCDC25	27661607	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.308000	0.51896	2.523000	0.85059	0.655000	0.94253	CGT		0.403	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		80	430	0	0	0	1	0	80	430					A	27605688	G	A	27605688	3	1	79	1	0	0	0	0	1	0	0	0	2807	1058	37	1	181	1	CCDC25	8	27605688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91348	27605688	118758334	9292	19609											
CCDC25	55246	broad.mit.edu	37	chr8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctaggtctgggaaccGctcgactttggtcttttcta	11	10	3	0	rs374219944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	140						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCTGGGAACCGCTCGACTTTG	0.393																																						ENST00000356537.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(418-420)Cgg>Tgg		coiled-coil domain containing 25		G	TRP/ARG	0,4406		0,0,2203	126	122	123		418	3.7	1	8		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC25	NM_018246.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/209	27605727	1,13005	2203	4300	6503	SO:0001583	missense	55246							g.chr8:27605727G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.418C>T	8.37:g.27605727G>A	ENSP00000348933:p.Arg140Trp					CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W	p.R140W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	511	-		Ovarian(32;0.000953)	140					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.418C>T	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375397	0.82682	0.0	1.16E-4	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	3.72	0.42706	.	0.061313	0.64402	D	0.000002	T	0.79293	0.4421	M	0.86651	2.83	0.46981	D	0.999275	D	0.89917	1.0	D	0.65987	0.94	T	0.81684	-0.0821	9	0.87932	D	0	-6.8299	12.373	0.55265	0.0:0.0:0.6832:0.3168	.	140	Q86WR0	CCD25_HUMAN	W	140;72;72	.	ENSP00000348933:R140W	R	-	1	2	CCDC25	27661646	0.993000	0.37304	0.988000	0.46212	0.964000	0.63967	3.511000	0.53400	0.644000	0.30656	0.655000	0.94253	CGG		0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		19	452	0	0	0	1	0	19	452					A	27605727	G	A	27605727	3	1	79	1	0	0	0	0	1	0	0	0	2807	1086	38	1	220	1	CCDC25	8	27605727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	27605727	118758295	9293	19610											
ESCO2	157570	broad.mit.edu	37	chr8	27634227	27634227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaaaccagtctgctccaaGaagaacaacaaaaaaccaca	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	134					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)aaG>aaA		establishment of sister chromatid cohesion N-acetyltransferase 2							57	55	55					8																	27634227		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634227G>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.402G>A	8.37:g.27634227G>A						ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	p.K134K	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	640	+		Ovarian(32;0.000953)	134					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.402G>A	CCDS34872.1																																																																																				0.338	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		50	186	0	0	0	1	0	50	186					A	27634227	G	A	27634227	2	1	79	1	0	0	0	0	0	0	0	1	5267	933	33	2		2	ESCO2	8	27634227	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28500	27634227	118729795	9294	19611											
SCARA5	286133	broad.mit.edu	37	chr8	27737093	27737093	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagcgccttaccttgcccGaatcgagctgtgcggtacac	11	14	0	1	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	448	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18283	0.0		0.0	False		,,,				2504	0.0					ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1342-1344)ttC>ttT		scavenger receptor class A, member 5 (putative)		G		5,4401	9.9+/-24.2	0,5,2198	140	108	119		1344	-2.5	0.7	8	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	SCARA5	NM_173833.5		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		448/496	27737093	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737093G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1344C>T	8.37:g.27737093G>A						SCARA5_ENST00000380385.2_Silent_p.F223F	p.F448F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1829	-		Ovarian(32;0.0218)	448			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.1344C>T	CCDS6064.1																																																																																				0.612	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		28	578	0	0	0	1	0	28	578					A	27737093	G	A	27737093	2	1	79	1	0	0	0	0	0	0	0	1	13930	1049	37	1		1	SCARA5	8	27737093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102866	27737093	118626929	9295	19612											
ELP3	55140	broad.mit.edu	37	chr8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagattactgcatgaagCgacatttaagtgacatgttg	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	230					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(688-690)Cga>Tga		elongator acetyltransferase complex subunit 3							204	192	196					8																	27987089		2203	4300	6503	SO:0001587	stop_gained	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27987089C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.688C>T	8.37:g.27987089C>T	ENSP00000256398:p.Arg230*					ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*	p.R230*	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	8	1065	+		Ovarian(32;0.0218)	230					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Nonsense_Mutation	SNP	ENST00000256398.8	37	c.688C>T	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072355	0.93950	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	4.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7133	11.0472	0.47865	0.3306:0.6694:0.0:0.0	.	.	.	.	X	216;230;101;158;111;138	.	ENSP00000256398:R230X	R	+	1	2	ELP3	28043008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.607000	0.36836	1.213000	0.43380	0.655000	0.94253	CGA		0.418	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		132	500	0	0	0	1	0	132	500					T	27987089	C	T	27987089	4	4	79	1	0	0	0	0	0	1	0	0	5099	760	27	1	718	1	ELP3	8	27987089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249996	27987089	118376933	9296	19613											
ELP3	55140	broad.mit.edu	37	chr8	27989836	27989836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgagtcatttcacctggCcaaagattccggttttaaag	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27989836C>T	ENST00000256398.8	+	9	1198	c.821C>T	c.(820-822)gCc>gTc	p.A274V	ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	274					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCACCTGGCCAAAGATTCC	0.443																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(820-822)gCc>gTc		elongator acetyltransferase complex subunit 3							128	110	116					8																	27989836		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27989836C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.821C>T	8.37:g.27989836C>T	ENSP00000256398:p.Ala274Val					ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V	p.A274V	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	9	1198	+		Ovarian(32;0.0218)	274					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.821C>T	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114248	0.77210	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.26	5.26	0.73747	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.110234	0.64402	D	0.000009	D	0.83092	0.5179	M	0.80847	2.515	0.80722	D	1	B;B	0.22003	0.063;0.028	B;B	0.28709	0.063;0.093	T	0.81583	-0.0866	10	0.56958	D	0.05	-13.6737	16.7288	0.85430	0.0:1.0:0.0:0.0	.	155;274	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	260;274;145;202;155;182	ENSP00000428449:A260V;ENSP00000256398:A274V;ENSP00000439242:A145V;ENSP00000429180:A202V;ENSP00000445558:A155V;ENSP00000369711:A182V	ENSP00000256398:A274V	A	+	2	0	ELP3	28045755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.598000	0.87819	0.557000	0.71058	GCC		0.443	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		6	201	0	0	0	1	0	6	201					T	27989836	C	T	27989836	3	4	79	1	0	0	0	0	1	0	0	0	5099	739	26	2	855	2	ELP3	8	27989836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2747	27989836	118374186	9297	19614											
PNOC	5368	broad.mit.edu	37	chr8	28196589	28196589	+	Frame_Shift_Del	DEL	C	C	-													gagtgtgaagagaaggtcttCcccagccccctctggactcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28196589delC	ENST00000301908.3	+	3	367	c.159delC	c.(157-159)ttcfs	p.F53fs	PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	53					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		AGAAGGTCTTCCCCAGCCCCC	0.607																																						ENST00000301908.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(157-159)ttfs		prepronociceptin							75	76	76					8																	28196589		2203	4300	6503	SO:0001589	frameshift_variant	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196589delC		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.159delC	8.37:g.28196589delC	ENSP00000301908:p.Phe53fs					PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	p.F53fs	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	367	+		Ovarian(32;0.000953)	53					B7Z749|Q6FH16	Frame_Shift_Del	DEL	ENST00000301908.3	37	c.159delC	CCDS6066.1																																																																																				0.607	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		46	491						46	491	---	---	---	---	-	28196589	C	-	28196589	7	5	79	1	0	1	0	1	0	0	0	0	12204	854	30	0	165	0	PNOC	8	28196589	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	206753	28196589	118167433	9298	19615											
ZNF395	55893	broad.mit.edu	37	chr8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggcctgtaggccagggcCtgggctccgggctccagggg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(424-426)caG>caT		zinc finger protein 395							46	55	52					8																	28217156		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28217156C>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.426G>T	8.37:g.28217156C>A	ENSP00000340494:p.Gln142His					ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	3	557	-		Ovarian(32;2.06e-05)	142					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.426G>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460047	0.43736	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.4	3.45	0.39498	.	0.582668	0.16352	N	0.218191	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	0.99999	D	0.54964	0.969	P	0.47162	0.54	T	0.66504	-0.5907	10	0.30078	T	0.28	-14.5634	7.2882	0.26352	0.2026:0.6261:0.1713:0.0	.	142	Q9H8N7	ZN395_HUMAN	H	142	ENSP00000340494:Q142H;ENSP00000429640:Q142H;ENSP00000428452:Q142H;ENSP00000427934:Q142H	ENSP00000340494:Q142H	Q	-	3	2	ZNF395	28273075	0.020000	0.18652	0.622000	0.29159	0.657000	0.38888	0.781000	0.26774	2.537000	0.85549	0.555000	0.69702	CAG		0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			136	493	1	0	3.74121e-53	1	4.66092e-53	136	493					A	28217156	C	A	28217156	3	1	79	1	0	0	0	0	1	0	0	0	17934	680	24	3	1147	3	ZNF395	8	28217156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20567	28217156	118146866	9299	19616											
FZD3	7976	broad.mit.edu	37	chr8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctattatattttatgCagtctgctacatgatggtat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	242					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)			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)		ATATTTTATGCAGTCTGCTAC	0.368																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(724-726)gCa>gTa		frizzled family receptor 3							99	101	101					8																	28385002		2202	4300	6502	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.chr8:28385002C>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.725C>T	8.37:g.28385002C>T	ENSP00000240093:p.Ala242Val					FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1203	+		Ovarian(32;2.06e-05)	242					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.725C>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480194	0.84747	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91908	0.5537	10	0.87932	D	0	.	17.8224	0.88654	0.0:1.0:0.0:0.0	.	242	Q9NPG1	FZD3_HUMAN	V	242	ENSP00000437489:A242V;ENSP00000240093:A242V	ENSP00000240093:A242V	A	+	2	0	FZD3	28440921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCA		0.368	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		94	493	0	0	0	1	0	94	493					T	28385002	C	T	28385002	3	4	79	1	0	0	0	0	1	0	0	0	6158	710	25	2	735	2	FZD3	8	28385002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167846	28385002	117979020	9300	19617											
FZD3	7976	broad.mit.edu	37	chr8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgatgaataaaattgaaggtGacaatattagtggcgtgtgt	12	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	355					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)			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)		AATTGAAGGTGACAATATTAG	0.443																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(1063-1065)Gac>Aac		frizzled family receptor 3							148	145	146					8																	28385340		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.chr8:28385340G>A	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.1063G>A	8.37:g.28385340G>A	ENSP00000240093:p.Asp355Asn					FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1541	+		Ovarian(32;2.06e-05)	355					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1063G>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558480	0.86231	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93866	0.7158	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	355	Q9NPG1	FZD3_HUMAN	N	355	ENSP00000437489:D355N;ENSP00000240093:D355N	ENSP00000240093:D355N	D	+	1	0	FZD3	28441259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.371000	0.80710	0.563000	0.77884	GAC		0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		91	362	0	0	0	1	0	91	362					A	28385340	G	A	28385340	3	1	79	1	0	0	0	0	1	0	0	0	6158	1290	45	2	1073	2	FZD3	8	28385340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338	28385340	117978682	9301	19618											
EXTL3	2137	broad.mit.edu	37	chr8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagcattgagaacgccaaGcaggacctgctccagctcaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	125					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGAACGCCAAGCAGGACCTGC	0.567																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(373-375)aaG>aaT		exostosin-like glycosyltransferase 3							46	40	42					8																	28573951		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573951G>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.375G>T	8.37:g.28573951G>T	ENSP00000220562:p.Lys125Asn					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.K125N	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1277	+		Ovarian(32;0.069)	125					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.375G>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699654	0.48307	.	.	ENSG00000012232	ENST00000220562	D	0.95482	-3.72	5.05	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.36672	1.1	0.54753	D	0.999988	D	0.54047	0.964	P	0.46940	0.532	D	0.91931	0.5555	9	.	.	.	-27.5715	14.3478	0.66678	0.0844:0.0:0.9156:0.0	.	125	O43909	EXTL3_HUMAN	N	125	ENSP00000220562:K125N	.	K	+	3	2	EXTL3	28629870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.567000	0.60850	2.352000	0.79861	0.491000	0.48974	AAG		0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		29	159	1	0	4.87955e-14	1	5.28594e-14	29	159					T	28573951	G	T	28573951	3	4	79	1	0	0	0	0	1	0	0	0	5345	962	34	3	377	3	EXTL3	8	28573951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	188611	28573951	117790071	9302	19619											
EXTL3	2137	broad.mit.edu	37	chr8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A													gaaggccactcggggctgccGgctacacaactgctttgatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	178					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGGGCTGCCGGCTACACAAC	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(532-534)cGg>cAg		exostosin-like glycosyltransferase 3							72	76	75					8																	28574109		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574109G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.533G>A	8.37:g.28574109G>A	ENSP00000220562:p.Arg178Gln					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.R178Q	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1435	+		Ovarian(32;0.069)	178					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.533G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546182	0.45383	.	.	ENSG00000012232	ENST00000220562	D	0.95788	-3.81	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	D	0.91307	0.7259	L	0.27053	0.805	0.58432	D	0.999997	B	0.19200	0.034	B	0.08055	0.003	D	0.87603	0.2498	9	.	.	.	-24.3996	18.403	0.90523	0.0:0.0:1.0:0.0	.	178	O43909	EXTL3_HUMAN	Q	178	ENSP00000220562:R178Q	.	R	+	2	0	EXTL3	28630028	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.624000	0.98398	2.348000	0.79779	0.485000	0.47835	CGG		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		88	407	0	0	0	1	0	88	407					A	28574109	G	A	28574109	3	1	79	1	0	0	0	0	1	0	0	0	5345	1116	39	1	535	1	EXTL3	8	28574109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	28574109	117789913	9303	19620	121	2									
EXTL3	2137	broad.mit.edu	37	chr8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G													ctcggggctgccggctacacAactgctttgattattctcgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGGCTACACAACTGCTTTGA	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(541-543)Aac>Gac		exostosin-like glycosyltransferase 3							82	84	83					8																	28574117		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574117A>G	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.541A>G	8.37:g.28574117A>G	ENSP00000220562:p.Asn181Asp					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.N181D	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1443	+		Ovarian(32;0.069)	181					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.541A>G	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484444	0.26598	.	.	ENSG00000012232	ENST00000220562	D	0.95238	-3.65	5.02	3.87	0.44632	.	0.157871	0.56097	D	0.000027	D	0.89663	0.6780	L	0.39898	1.24	0.38076	D	0.936535	B	0.14012	0.009	B	0.12156	0.007	D	0.85933	0.1453	9	.	.	.	-21.2576	10.1276	0.42658	0.9215:0.0:0.0785:0.0	.	181	O43909	EXTL3_HUMAN	D	181	ENSP00000220562:N181D	.	N	+	1	0	EXTL3	28630036	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.526000	0.53509	1.903000	0.55091	0.397000	0.26171	AAC		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		51	433	0	0	0	1	0	51	433					G	28574117	A	G	28574117	3	3	79	1	0	0	0	0	1	0	0	0	5345	130	5	4	543	4	EXTL3	8	28574117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	28574117	117789905	9304	19621	121	2									
EXTL3	2137	broad.mit.edu	37	chr8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctatgaggcggcaaggcCgctttctctgggagacttac	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	513					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGGCAAGGCCGCTTTCTCTG	0.562																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1537-1539)Cgc>Tgc		exostosin-like glycosyltransferase 3							57	58	58					8																	28575113		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575113C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1537C>T	8.37:g.28575113C>T	ENSP00000220562:p.Arg513Cys					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C	p.R513C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2439	+		Ovarian(32;0.069)	513					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1537C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138105	0.77775	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96300	-3.53;-3.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-23.0606	20.0522	0.97631	0.0:1.0:0.0:0.0	.	513	O43909	EXTL3_HUMAN	C	129;513	ENSP00000428691:R129C;ENSP00000220562:R513C	ENSP00000220562:R513C	R	+	1	0	EXTL3	28631032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.737000	0.93849	0.563000	0.77884	CGC		0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		84	343	0	0	0	1	0	84	343					T	28575113	C	T	28575113	3	4	79	1	0	0	0	0	1	0	0	0	5345	652	23	1	1539	1	EXTL3	8	28575113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996	28575113	117788909	9305	19622											
EXTL3	2137	broad.mit.edu	37	chr8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtggcctgacattggcGtccccatcatggtaatagag	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACATTGGCGTCCCCATCAT	0.463																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(2137-2139)Gtc>Atc		exostosin-like glycosyltransferase 3							94	94	94					8																	28575713		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575713G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2137G>A	8.37:g.28575713G>A	ENSP00000220562:p.Val713Ile					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I	p.V713I	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	3039	+		Ovarian(32;0.069)	713					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.2137G>A	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.449679|2.449679	0.43531|0.43531	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562	.|D;D	.|0.86694	.|-2.16;-2.16	5.91|5.91	5.91|5.91	0.95273|0.95273	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.065273	.|0.64402	.|D	.|0.000008	D|D	0.86797|0.86797	0.6019|0.6019	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.53312	.|0.959	.|P	.|0.44696	.|0.458	D|D	0.85714|0.85714	0.1321|0.1321	5|10	.|0.38643	.|T	.|0.18	-40.094|-40.094	20.2946|20.2946	0.98546|0.98546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|713	.|O43909	.|EXTL3_HUMAN	H|I	46|329;713	.|ENSP00000428691:V329I;ENSP00000220562:V713I	.|ENSP00000220562:V713I	R|V	+|+	2|1	0|0	EXTL3|EXTL3	28631632|28631632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	6.074000|6.074000	0.71253|0.71253	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.463	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		82	317	0	0	0	1	0	82	317					A	28575713	G	A	28575713	3	1	79	1	0	0	0	0	1	0	0	0	5345	1145	40	1	2139	1	EXTL3	8	28575713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	28575713	117788309	9306	19623											
KIF13B	23303	broad.mit.edu	37	chr8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcaattcaaagaactcCtcttcttcttccccagtcaa	3	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1206					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAAGAACTCCTCTTCTTCTT	0.458																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3616-3618)gaG>gaT		kinesin family member 13B							171	172	172					8																	28976427		1941	4155	6096	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28976427C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3618G>T	8.37:g.28976427C>A	ENSP00000427900:p.Glu1206Asp					CTD-2647L4.1_ENST00000523661.1_RNA	p.E1206D	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	30	3656	-		Ovarian(32;0.000536)	1206					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3618G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413266	0.04799	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.89	-6.99	0.01605	.	0.258306	0.44097	N	0.000483	T	0.35128	0.0921	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.09843	T	0.71	.	2.2038	0.03931	0.3404:0.2516:0.3025:0.1054	.	1206	F8VPJ2	.	D	1206	ENSP00000427900:E1206D	ENSP00000427900:E1206D	E	-	3	2	KIF13B	29032346	0.001000	0.12720	0.900000	0.35374	0.902000	0.53008	-1.583000	0.02115	-1.236000	0.02542	-0.471000	0.05019	GAG		0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			74	470	1	0	8.70598e-44	1	1.06393e-43	74	470					A	28976427	C	A	28976427	3	1	79	1	0	0	0	0	1	0	0	0	8305	680	24	3	1906	3	KIF13B	8	28976427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400714	28976427	117387595	9307	19624											
KIF13B	23303	broad.mit.edu	37	chr8	28980978	28980978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcatctccagaagctgCgcttcacggtcagcatcatc	8	15	4	1	rs192162158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28980978C>T	ENST00000524189.1	-	28	3422	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1128					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCAGAAGCTGCGCTTCACGGT	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.0					ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3382-3384)gcG>gcA		kinesin family member 13B		C		14,3904		0,14,1945	140	138	138		3384	-4.6	0.4	8		138	0,8316		0,0,4158	no	coding-synonymous	KIF13B	NM_015254.3		0,14,6103	TT,TC,CC		0.0,0.3573,0.1144		1128/1827	28980978	14,12220	1959	4158	6117	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28980978C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3384G>A	8.37:g.28980978C>T						CTD-2647L4.1_ENST00000523661.1_RNA	p.A1128A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	28	3422	-		Ovarian(32;0.000536)	1128					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.3384G>A	CCDS55217.1																																																																																				0.488	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			12	704	0	0	0	1	0	12	704					T	28980978	C	T	28980978	2	4	79	1	0	0	0	0	0	0	0	1	8305	755	27	1		1	KIF13B	8	28980978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4551	28980978	117383044	9308	19625											
KIF13B	23303	broad.mit.edu	37	chr8	29003895	29003895	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggaacggcaacctcacCttcctgttggcatccaggct	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29003895C>A	ENST00000524189.1	-	18	2225	c.2187G>T	c.(2185-2187)aaG>aaT	p.K729N	KIF13B_ENST00000521515.1_Missense_Mutation_p.K729N	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	729					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAACCTCACCTTCCTGTTGG	0.443																																						ENST00000521515.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(2185-2187)aaG>aaT		kinesin family member 13B							125	116	119					8																	29003895		1894	4108	6002	SO:0001630	splice_region_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29003895C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2187+1G>T	8.37:g.29003895C>A						KIF13B_ENST00000524189.1_Splice_Site_p.K729_splice	p.K729N			Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	18	2249	-		Ovarian(32;0.000536)	729					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2187G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044198	0.93685	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.78481	-0.65;-1.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.73962	2.25	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.63877	0.919;0.84	D	0.87201	0.2241	10	0.54805	T	0.06	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	729;729	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	N	729	ENSP00000427900:K729N;ENSP00000429201:K729N	ENSP00000429201:K729N	K	-	3	2	KIF13B	29059814	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.588000	0.82629	2.854000	0.98071	0.655000	0.94253	AAG		0.443	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		Missense_Mutation	6	321	1	0	0.00116845	1	0.00118049	6	321					A	29003895	C	A	29003895	5	1	79	1	0	0	0	0	0	0	1	0	8305	695	24	3	3385	3	KIF13B	8	29003895	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22917	29003895	117360127	9309	19626											
KIF13B	23303	broad.mit.edu	37	chr8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgtcttaagcgttgCtgagcgctgggcgagtggaa	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	665					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTAAGCGTTGCTGAGCGCTGG	0.552																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1993-1995)caG>caT		kinesin family member 13B							38	36	37					8																	29004938		1950	4164	6114	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29004938C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1995G>T	8.37:g.29004938C>A	ENSP00000427900:p.Gln665His					KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	17	2033	-		Ovarian(32;0.000536)	665					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1995G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391408	0.25118	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72051	-0.62;-0.62	5.51	2.53	0.30540	.	0.055724	0.64402	D	0.000001	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	B;B	0.24092	0.097;0.045	B;B	0.23852	0.017;0.049	T	0.49995	-0.8879	10	0.49607	T	0.09	.	9.5339	0.39211	0.0:0.6796:0.0:0.3204	.	665;665	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	H	665	ENSP00000427900:Q665H;ENSP00000429201:Q665H	ENSP00000429201:Q665H	Q	-	3	2	KIF13B	29060857	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.240000	0.32731	0.214000	0.20742	0.563000	0.77884	CAG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			18	66	1	0	2.4624e-09	1	2.59004e-09	18	66					A	29004938	C	A	29004938	3	1	79	1	0	0	0	0	1	0	0	0	8305	796	28	3	3581	3	KIF13B	8	29004938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1043	29004938	117359084	9310	19627											
KIF13B	23303	broad.mit.edu	37	chr8	29033584	29033584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaaaaaaacaaacttaCtttgagcagccaagtgagaa	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACAAACTTACTTTGAGCAGC	0.413																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.e10+1		kinesin family member 13B							71	64	66					8																	29033584		1876	4100	5976	SO:0001630	splice_region_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29033584C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.945+1G>A	8.37:g.29033584C>T						KIF13B_ENST00000521515.1_Splice_Site		NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	10	984	-		Ovarian(32;0.000536)						B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Splice_Site	SNP	ENST00000524189.1	37		CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858644	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13B	29089503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.588000	0.82629	2.763000	0.94921	0.563000	0.77884	.		0.413	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		Intron	6	90	0	0	0	1	0	6	90					T	29033584	C	T	29033584	5	4	79	1	0	0	0	0	0	0	1	0	8305	579	20	2	4658	2	KIF13B	8	29033584	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28646	29033584	117330438	9311	19628											
TMEM66	51669	broad.mit.edu	37	chr8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggggtgagtaagccctattCcacgtgccagggtaggaggg	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C|TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		303					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(907-909)tgG>tgT		transmembrane protein 66							133	126	128					8																	29923589		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29923589C>A																												ENST00000256255.6:c.909G>T	8.37:g.29923589C>A	ENSP00000256255:p.Trp303Cys					TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C	p.W303C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1166	-			303					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.909G>T	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.95|13.95|13.95	2.389019|2.389019|2.389019	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273	.|.|T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	.|.|.	.|.|0.366629	.|.|0.29799	.|.|N	.|.|0.011163	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	M|M|M	0.85859|0.85859|0.85859	2.78|2.78|2.78	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.76494	.|.|0.999;0.998	.|.|D;D	.|.|0.69824	.|.|0.966;0.947	.|T|T	.|0.72763|0.72763	.|-0.4195|-0.4195	.|5|10	.|.|0.59425	.|.|D	.|.|0.04	-19.4179|-19.4179|-19.4179	10.793|10.793|10.793	0.46445|0.46445|0.46445	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.|.	.|.|303;303	.|.|B3KQQ4;Q96BY9	.|.|.;TMM66_HUMAN	X|V|C	173|303|303;131;267;131	.|.|ENSP00000256255:W303C;ENSP00000441351:W131C;ENSP00000441723:W131C	.|.|ENSP00000256255:W303C	E|G|W	-|-|-	1|2|3	0|0|0	TMEM66|TMEM66|TMEM66	30043131|30043131|30043131	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.864000|0.864000|0.864000	0.33941|0.33941|0.33941	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	2.362000|2.362000|2.362000	0.44169|0.44169|0.44169	1.441000|1.441000|1.441000	0.47550|0.47550|0.47550	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.483	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			45	368	1	0	5.7616e-29	1	6.72236e-29	45	368					A	29923589	C	A	29923589	3	1	79	1	0	0	0	0	1	0	0	0	16247	856	30	3	118	3	TMEM66	8	29923589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890005	29923589	116440433	9312	19629											
UBXN8	7993	broad.mit.edu	37	chr8	30623764	30623764	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttgactggatgacgAgaattgggtaccacatatct	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	ENST00000519246.1	+	0	865							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						CTGGATGACGAGAATTGGGTA	0.438																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8							79	75	76					8																	30623764		1872	4106	5978			7993				single fertilization			g.chr8:30623764A>G	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"UBX domain containing"	30307	protein-coding gene	gene with protein product		602155	"UBX domain containing 6"	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30623764A>G										O00124	UBXN8_HUMAN			0	865	+								Q7Z6F2	RNA	SNP	ENST00000519246.1	37																																																																																						0.438	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		36	210	0	0	0	1	0	36	210					G	30623764	A	G	30623764	1	3	79	0	1	0	0	0	0	0	0	0	16973	296	11	4		4	UBXN8	8	30623764	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	700175	30623764	115740258	9313	19630											
PPP2CB	5516	broad.mit.edu	37	chr8	30655229	30655229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaatttgtcggctttcGtgatttcctctcaatattgt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	118					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.H118H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363																																						ENST00000221138.4																			1	Substitution - coding silent(1)	p.H118H(1)	lung(1)	breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(352-354)caC>caT		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						85	75	79					8																	30655229		2203	4300	6503	SO:0001819	synonymous_variant	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30655229G>A		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.354C>T	8.37:g.30655229G>A						PPP2CB_ENST00000518564.1_Intron	p.H118H	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	3	804	-			118					D3DSV4|P11082|Q6FHK5	Silent	SNP	ENST00000221138.4	37	c.354C>T	CCDS6079.1																																																																																				0.363	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		38	205	0	0	0	1	0	38	205					A	30655229	G	A	30655229	2	1	79	1	0	0	0	0	0	0	0	1	12428	1136	40	1		1	PPP2CB	8	30655229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31465	30655229	115708793	9314	19631											
TEX15	56154	broad.mit.edu	37	chr8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcctggatgaaaggaTtcttggtgccatggagctgg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2783					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)					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)		GATGAAAGGATTCTTGGTGCC	0.289																																						ENST00000256246.2																			0				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						c.(8347-8349)gaA>gaC		testis expressed 15							37	39	38					8																	30690823		2203	4297	6500	SO:0001583	missense	56154							g.chr8:30690823T>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.8349A>C	8.37:g.30690823T>G	ENSP00000256246:p.Glu2783Asp						p.E2783D	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	4	8423	-			2783						Missense_Mutation	SNP	ENST00000256246.2	37	c.8349A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024091	0.08006	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.72	3.28	0.37604	.	1.270990	0.05549	N	0.567080	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.36841	-0.9731	10	0.87932	D	0	.	4.9207	0.13869	0.1687:0.0877:0.0:0.7436	.	2783	Q9BXT5	TEX15_HUMAN	D	2783	ENSP00000256246:E2783D	ENSP00000256246:E2783D	E	-	3	2	TEX15	30810365	0.015000	0.18098	0.063000	0.19743	0.108000	0.19459	1.003000	0.29809	0.495000	0.27882	0.528000	0.53228	GAA		0.289	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	102	0	0	0	1	0	23	102					G	30690823	T	G	30690823	3	3	79	1	0	0	0	0	1	0	0	0	15831	1490	52	4	24	4	TEX15	8	30690823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35594	30690823	115673199	9315	19632											
TEX15	56154	broad.mit.edu	37	chr8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctaagggtaaaagtgagCcaggtagtgatctttgcatt	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2396					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)					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)		TAAAAGTGAGCCAGGTAGTGA	0.388																																						ENST00000256246.2																			0				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						c.(7186-7188)gGc>gTc		testis expressed 15							216	215	215					8																	30695464		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695464C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7187G>T	8.37:g.30695464C>A	ENSP00000256246:p.Gly2396Val						p.G2396V	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7261	-			2396						Missense_Mutation	SNP	ENST00000256246.2	37	c.7187G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396149	0.62177	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	4.4	-3.86	0.04230	.	1.595900	0.03684	N	0.245973	T	0.10937	0.0267	L	0.44542	1.39	0.22858	N	0.998647	B	0.26809	0.16	B	0.25291	0.059	T	0.30446	-0.9978	10	0.87932	D	0	.	1.8012	0.03071	0.1337:0.3029:0.1313:0.4321	.	2396	Q9BXT5	TEX15_HUMAN	V	2396	ENSP00000256246:G2396V	ENSP00000256246:G2396V	G	-	2	0	TEX15	30815006	0.000000	0.05858	0.001000	0.08648	0.533000	0.34776	-1.045000	0.03528	-1.018000	0.03363	0.462000	0.41574	GGC		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			212	924	1	0	3.59702e-68	1	4.56002e-68	212	924					A	30695464	C	A	30695464	3	1	79	1	0	0	0	0	1	0	0	0	15831	739	26	3	1190	3	TEX15	8	30695464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4641	30695464	115668558	9316	19633											
TEX15	56154	broad.mit.edu	37	chr8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaaaggcaaacatctgttGagttatctttaagaaatgaa	7	6	2	3	rs372186254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2119					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)					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)		AACATCTGTTGAGTTATCTTT	0.368																																						ENST00000256246.2																			0				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						c.(6355-6357)tCa>tTa		testis expressed 15							56	58	57					8																	30700178		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30700178G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6356C>T	8.37:g.30700178G>A	ENSP00000256246:p.Ser2119Leu						p.S2119L	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6430	-			2119						Missense_Mutation	SNP	ENST00000256246.2	37	c.6356C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461201	0.26248	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	4.78	0.61160	.	0.545093	0.16589	N	0.207875	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	B	0.32365	0.367	B	0.30316	0.114	T	0.23940	-1.0174	10	0.87932	D	0	.	7.0698	0.25171	0.0866:0.0:0.7338:0.1796	.	2119	Q9BXT5	TEX15_HUMAN	L	2119	ENSP00000256246:S2119L	ENSP00000256246:S2119L	S	-	2	0	TEX15	30819720	0.998000	0.40836	0.017000	0.16124	0.967000	0.64934	3.336000	0.52113	1.336000	0.45506	0.591000	0.81541	TCA		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			46	220	0	0	0	1	0	46	220					A	30700178	G	A	30700178	3	1	79	1	0	0	0	0	1	0	0	0	15831	1294	45	2	2029	2	TEX15	8	30700178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4714	30700178	115663844	9317	19634											
TEX15	56154	broad.mit.edu	37	chr8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctcttttgttaagcGgattagaaactgtgttcttc	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535					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)					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)		TTTGTTAAGCGGATTAGAAAC	0.353																																						ENST00000256246.2																			0				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						c.(4603-4605)cCg>cTg		testis expressed 15							179	184	182					8																	30701930		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701930G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4604C>T	8.37:g.30701930G>A	ENSP00000256246:p.Pro1535Leu						p.P1535L	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4678	-			1535						Missense_Mutation	SNP	ENST00000256246.2	37	c.4604C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337538	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.77	-1.07	0.09968	.	1.103820	0.06875	N	0.801452	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.41858	-0.9485	10	0.87932	D	0	.	1.8159	0.03100	0.123:0.1577:0.349:0.3703	.	1535	Q9BXT5	TEX15_HUMAN	L	1535	ENSP00000256246:P1535L	ENSP00000256246:P1535L	P	-	2	0	TEX15	30821472	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.141000	0.10327	-0.405000	0.07599	-1.085000	0.02201	CCG		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			187	892	0	0	0	1	0	187	892					A	30701930	G	A	30701930	3	1	79	1	0	0	0	0	1	0	0	0	15831	1116	39	1	3781	1	TEX15	8	30701930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	30701930	115662092	9318	19635											
TEX15	56154	broad.mit.edu	37	chr8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgagcaatggctaaaCttgtatgaatgttaccctca	8	8	1	2	rs201946995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	355					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)					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)		AATGGCTAAACTTGTATGAAT	0.378																																						ENST00000256246.2																			0				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						c.(1063-1065)aGt>aTt		testis expressed 15							70	66	67					8																	30705470		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705470C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1064G>T	8.37:g.30705470C>A	ENSP00000256246:p.Ser355Ile						p.S355I	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1138	-			355						Missense_Mutation	SNP	ENST00000256246.2	37	c.1064G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670934	0.14776	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.46	-2.5	0.06384	.	0.558840	0.18195	N	0.148712	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	P	0.48400	0.576	T	0.18366	-1.0339	10	0.87932	D	0	.	12.1096	0.53831	0.0:0.3605:0.0:0.6395	.	355	Q9BXT5	TEX15_HUMAN	I	355	ENSP00000256246:S355I	ENSP00000256246:S355I	S	-	2	0	TEX15	30825012	0.005000	0.15991	0.005000	0.12908	0.054000	0.15201	-0.517000	0.06275	-0.457000	0.07033	-1.000000	0.02509	AGT		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			33	163	1	0	3.99451e-17	1	4.40333e-17	33	163					A	30705470	C	A	30705470	3	1	79	1	0	0	0	0	1	0	0	0	15831	565	20	3	7321	3	TEX15	8	30705470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3540	30705470	115658552	9319	19636											
NRG1	3084	broad.mit.edu	37	chr8	32453476	32453476	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaagaatgggaatgaattGaatcgaaaaaacaaaccaca	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000405005.3	+	2	231	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000287842.3_Silent_p.L77L			Q02297	NRG1_HUMAN	neuregulin 1	77	Ig-like C2-type.				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)			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)		GGAATGAATTGAATCGAAAAA	0.393																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(229-231)ttG>ttA		neuregulin 1							107	116	113					8																	32453476		2203	4300	6503	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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|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.chr8:32453476G>A	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.231G>A	8.37:g.32453476G>A						NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000287840.5_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000405005.2_Silent_p.L77L	p.L77L			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	2	748	+		Breast(100;0.203)	77			Ig-like C2-type.		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.231G>A	CCDS6085.1																																																																																				0.393	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			86	407	0	0	0	1	0	86	407					A	32453476	G	A	32453476	2	1	79	1	0	0	0	0	0	0	0	1	10689	1291	45	2		2	NRG1	8	32453476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748006	32453476	113910546	9320	19637											
NRG1	3084	broad.mit.edu	37	chr8	32600219	32600219	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagtttactggtgatcGctgccaaaactacgtaatgg	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32600219G>A	ENST00000405005.3	+	7	700				NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000341377.5_Missense_Mutation_p.A243T|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H			Q02297	NRG1_HUMAN	neuregulin 1						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)			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)		ACTGGTGATCGCTGCCAAAAC	0.428																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(727-729)Gct>Act		neuregulin 1							225	192	203					8																	32600219		2203	4300	6503	SO:0001627	intron_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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|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.chr8:32600219G>A	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.700+626G>A	8.37:g.32600219G>A						NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H|NRG1_ENST00000405005.2_Intron	p.A243T			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	8	1244	+		Breast(100;0.203)	632					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	Missense_Mutation	SNP	ENST00000405005.3	37	c.727G>A	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900372|4.900372	0.92035|0.92035	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000341377;ENST00000523041|ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000356819;ENST00000287845;ENST00000287842;ENST00000520502;ENST00000518084;ENST00000519240;ENST00000539990	T|D;D;D;D;D;D;D;D;T;T;T;D	0.77489|0.91996	-1.1|-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;1.46;0.94;1.46;-2.95	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	D|D	0.97090|0.97090	0.9049|0.9049	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D;D;D;D;D;D;D	0.31054|0.89917	0.306|1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;0.999;1.0	B|D;D;D;D;D;P;D;D;D;D;D	0.28385|0.85130	0.089|0.997;0.985;0.982;0.96;0.985;0.823;0.996;0.982;0.982;0.943;0.989	D|D	0.97037|0.97037	0.9754|0.9754	9|9	0.87932|0.87932	D|D	0|0	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|66;220;186;220;219;185;275;220;220;220;401	Q02297-4|B7Z1E3;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;Q02297-10;Q02297-7;Q02297-6;Q02297-8;Q02297-9	.|.;.;.;.;.;.;.;.;.;.;.	T|H	243;192|182;165;401;288;220;220;186;220;275;66;66;66	ENSP00000340497:A243T|ENSP00000430053:R182H;ENSP00000429582:R165H;ENSP00000434640:R401H;ENSP00000429067:R288H;ENSP00000430120:R220H;ENSP00000349275:R220H;ENSP00000287845:R186H;ENSP00000287842:R220H;ENSP00000433289:R275H;ENSP00000428546:R66H;ENSP00000428411:R66H;ENSP00000439276:R66H	ENSP00000340497:A243T|ENSP00000287842:R220H	A|R	+|+	1|2	0|0	NRG1|NRG1	32719761|32719761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.837000|9.837000	0.99465|0.99465	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.428	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			178	626	0	0	0	1	0	178	626					A	32600219	G	A	32600219	1	1	79	0	1	0	0	0	0	0	0	0	10689	1087	38	1		1	NRG1	8	32600219	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146743	32600219	113763803	9321	19638											
NRG1	3084	broad.mit.edu	37	chr8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctcgtgacaccaccaaGgctgcgggagaagaagtttg	12	10	1	3	rs368973399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000405005.3	+	12	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	485					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)			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)		ACACCACCAAGGCTGCGGGAG	0.577																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1477-1479)aGg>aTg		neuregulin 1		G	MET/ARG,,MET/ARG,MET/ARG,,MET/ARG,MET/ARG,,MET/ARG	0,4406		0,0,2203	139	108	119		1355,,1406,1304,,1469,1445,,1454	5	0.1	8		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense	NRG1	NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3	91,,91,91,,91,91,,91	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,probably-damaging	452/608,,469/625,435/591,,490/646,482/638,,485/641	32621451	1,13005	2203	4300	6503	SO:0001583	missense	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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|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.chr8:32621451G>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.1454G>T	8.37:g.32621451G>T	ENSP00000384620:p.Arg485Met					NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287840.5_Missense_Mutation_p.R485M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000405005.2_Missense_Mutation_p.R485M	p.R493M			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	1995	+		Breast(100;0.203)	485					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	Missense_Mutation	SNP	ENST00000405005.3	37	c.1478G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.88	5.01	0.66863	Neuregulin 1-related, C-terminal (1);	0.240552	0.40818	N	0.001001	T	0.70011	0.3175	L	0.47716	1.5	0.09310	N	0.999999	D;P;P;P;P;P;P	0.53462	0.96;0.81;0.744;0.547;0.699;0.899;0.699	P;P;P;B;P;P;P	0.62298	0.748;0.632;0.797;0.24;0.632;0.9;0.694	T	0.63024	-0.6729	10	0.46703	T	0.11	-17.5206	12.7104	0.57086	0.1356:0.0:0.8644:0.0	.	328;456;490;493;482;485;490	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	452;435;558;493;490;485;456;482;485;328	ENSP00000430053:R452M;ENSP00000429582:R435M;ENSP00000429067:R558M;ENSP00000343395:R493M;ENSP00000349275:R490M;ENSP00000287840:R485M;ENSP00000287845:R456M;ENSP00000287842:R482M;ENSP00000384620:R485M;ENSP00000439276:R328M	ENSP00000287840:R485M	R	+	2	0	NRG1	32740993	0.565000	0.26610	0.063000	0.19743	0.024000	0.10985	2.250000	0.43178	1.503000	0.48686	0.557000	0.71058	AGG		0.577	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			60	295	1	0	9.59835e-30	1	1.1228e-29	60	295					T	32621451	G	T	32621451	3	4	79	1	0	0	0	0	1	0	0	0	10689	1000	35	3	3225	3	NRG1	8	32621451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21232	32621451	113742571	9322	19639											
NRG1	3084	broad.mit.edu	37	chr8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccccgcgcatgacagtaAcagcctccctgctagcccct	7	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000405005.3	+	12	1529	c.1529A>G	c.(1528-1530)aAc>aGc	p.N510S	NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	510					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)			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)		CATGACAGTAACAGCCTCCCT	0.547																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1552-1554)aAc>aGc		neuregulin 1							94	76	82					8																	32621526		2203	4300	6503	SO:0001583	missense	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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|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.chr8:32621526A>G	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.1529A>G	8.37:g.32621526A>G	ENSP00000384620:p.Asn510Ser					NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287840.5_Missense_Mutation_p.N510S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000405005.2_Missense_Mutation_p.N510S	p.N518S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2070	+		Breast(100;0.203)	510					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	Missense_Mutation	SNP	ENST00000405005.3	37	c.1553A>G	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459402	0.04508	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	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	5.75	-2.42	0.06542	Neuregulin 1-related, C-terminal (1);	0.466636	0.25130	N	0.032920	T	0.24547	0.0595	N	0.19112	0.55	0.27175	N	0.960821	B;B;B;B;B;B;B	0.13594	0.002;0.008;0.005;0.0;0.008;0.002;0.004	B;B;B;B;B;B;B	0.23150	0.007;0.009;0.029;0.001;0.017;0.044;0.017	T	0.31833	-0.9929	10	0.08837	T	0.75	-4.7042	9.1717	0.37086	0.4312:0.117:0.4519:0.0	.	353;481;515;518;507;510;515	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	477;460;583;518;515;510;481;507;510;353	ENSP00000430053:N477S;ENSP00000429582:N460S;ENSP00000429067:N583S;ENSP00000343395:N518S;ENSP00000349275:N515S;ENSP00000287840:N510S;ENSP00000287845:N481S;ENSP00000287842:N507S;ENSP00000384620:N510S;ENSP00000439276:N353S	ENSP00000287840:N510S	N	+	2	0	NRG1	32741068	1.000000	0.71417	0.525000	0.27900	0.036000	0.12997	0.832000	0.27490	-0.673000	0.05259	-0.475000	0.04921	AAC		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			38	244	0	0	0	1	0	38	244					G	32621526	A	G	32621526	3	3	79	1	0	0	0	0	1	0	0	0	10689	43	2	4	3300	4	NRG1	8	32621526	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	32621526	113742496	9323	19640											
MAK16	84549	broad.mit.edu	37	chr8	33356000	33356000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcaggatggtaaatcCtccagtgaggaggaggaaga	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	252						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448																																						ENST00000360128.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						c.(754-756)tcC>tcT		MAK16 homolog (S. cerevisiae)							79	76	77					8																	33356000		2203	4300	6503	SO:0001819	synonymous_variant	84549					nucleolus		g.chr8:33356000C>T	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.756C>T	8.37:g.33356000C>T						TTI2_ENST00000519356.1_Intron	p.S252S	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN			10	1213	+			252					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	37	c.756C>T	CCDS6089.1																																																																																				0.448	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		56	252	0	0	0	1	0	56	252					T	33356000	C	T	33356000	2	4	79	1	0	0	0	0	0	0	0	1	9239	668	24	2		2	MAK16	8	33356000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734474	33356000	113008022	9324	19641											
RNF122	79845	broad.mit.edu	37	chr8	33406322	33406322	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgtggcctctgagggActagcaatgggcttgttaca	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	139						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517																																						ENST00000256257.1																			0				endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(415-417)agT>agC		ring finger protein 122							260	221	235					8																	33406322		2203	4300	6503	SO:0001819	synonymous_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33406322A>G	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.417T>C	8.37:g.33406322A>G							p.S139S	NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	6	818	-			139					Q52LK3	Silent	SNP	ENST00000256257.1	37	c.417T>C	CCDS6091.1																																																																																				0.517	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		116	570	0	0	0	1	0	116	570					G	33406322	A	G	33406322	2	3	79	1	0	0	0	0	0	0	0	1	13482	272	10	4		4	RNF122	8	33406322	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50322	33406322	112957700	9325	19642											
DUSP26	78986	broad.mit.edu	37	chr8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagaagcgggccataAaagtcatagaagcccaaagc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	13					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(37-39)tTt>tGt		dual specificity phosphatase 26 (putative)							58	58	58					8																	33454996		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33454996A>C	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.38T>G	8.37:g.33454996A>C	ENSP00000256261:p.Phe13Cys					DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	2	555	-			13					D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.38T>G	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204645	0.79127	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.21361	3.82;3.82;2.01	5.5	5.5	0.81552	.	0.360837	0.27744	N	0.018029	T	0.34221	0.0890	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.74674	0.984	T	0.03453	-1.1035	10	0.40728	T	0.16	-20.8967	13.8287	0.63366	1.0:0.0:0.0:0.0	.	13	Q9BV47	DUS26_HUMAN	C	13	ENSP00000256261:F13C;ENSP00000429176:F13C;ENSP00000430922:F13C	ENSP00000256261:F13C	F	-	2	0	DUSP26	33574538	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.292000	0.89930	2.094000	0.63399	0.459000	0.35465	TTT		0.542	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		44	195	0	0	0	1	0	44	195					C	33454996	A	C	33454996	3	2	79	1	0	0	0	0	1	0	0	0	4839	14	1	4	609	4	DUSP26	8	33454996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48674	33454996	112909026	9326	19643											
UNC5D	137970	broad.mit.edu	37	chr8	35406991	35406991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagtgggtccatcagaaCgagcacgtctctgaagagac	14	10	2	3	rs77010935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000404895.2	+	2	613	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000287272.2_Silent_p.N95N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	95	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		TCCATCAGAACGAGCACGTCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18834	0.0		0.001	False		,,,				2504	0.0					ENST00000287272.2																			0				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						c.(283-285)aaC>aaT		unc-5 homolog D (C. elegans)		C		5,4401	9.9+/-24.2	0,5,2198	52	47	48		285	0.6	1	8	dbSNP_132	48	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UNC5D	NM_080872.2		0,14,6489	TT,TC,CC		0.1047,0.1135,0.1076		95/954	35406991	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406991C>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.285C>T	8.37:g.35406991C>T						UNC5D_ENST00000404895.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000416672.1_Silent_p.N95N	p.N95N			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	305	+			95			Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.285C>T	CCDS6093.2																																																																																				0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			18	127	0	0	0	1	0	18	127					T	35406991	C	T	35406991	2	4	79	1	0	0	0	0	0	0	0	1	17049	535	19	1		1	UNC5D	8	35406991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951995	35406991	110957031	9327	19644											
UNC5D	137970	broad.mit.edu	37	chr8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actattggtgccagtgtgtgGcgtggagccacctgggtacc	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000404895.2	+	3	740	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000287272.2_Missense_Mutation_p.A138T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	138	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				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)		CCAGTGTGTGGCGTGGAGCCA	0.542																																						ENST00000287272.2																			0				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						c.(412-414)Gcg>Acg		unc-5 homolog D (C. elegans)							144	140	141					8																	35425705		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425705G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.412G>A	8.37:g.35425705G>A	ENSP00000385143:p.Ala138Thr					UNC5D_ENST00000404895.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T	p.A138T			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	432	+			138			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.412G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	35	5.432833	0.96150	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84579	0.0660	10	0.87932	D	0	-14.5974	18.7938	0.91985	0.0:0.0:1.0:0.0	.	133;138	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	138;138;138;138;133	ENSP00000385143:A138T;ENSP00000392739:A138T;ENSP00000287272:A138T;ENSP00000412652:A138T;ENSP00000394303:A133T	ENSP00000287272:A138T	A	+	1	0	UNC5D	35545247	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	GCG		0.542	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			108	550	0	0	0	1	0	108	550					A	35425705	G	A	35425705	3	1	79	1	0	0	0	0	1	0	0	0	17049	1203	42	2	422	2	UNC5D	8	35425705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18714	35425705	110938317	9328	19645											
UNC5D	137970	broad.mit.edu	37	chr8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttccctgggagtgtctgaGagagctgagtaccacggcaa	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000404895.2	+	10	1819	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000287272.2_Missense_Mutation_p.E428D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	497					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)				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)		GAGTGTCTGAGAGAGCTGAGT	0.473																																						ENST00000287272.2																			0				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						c.(1282-1284)gaG>gaT		unc-5 homolog D (C. elegans)							77	78	78					8																	35583857		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583857G>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.1491G>T	8.37:g.35583857G>T	ENSP00000385143:p.Glu497Asp					UNC5D_ENST00000404895.2_Missense_Mutation_p.E497D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D	p.E428D			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1304	+			497					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1284G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	3.978	-0.007080	0.07773	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53423	0.65;1.11;1.14;0.65;0.62;2.6	6.04	0.374	0.16183	.	0.298550	0.41605	N	0.000856	T	0.18509	0.0444	N	0.11789	0.175	0.33498	D	0.589572	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.004;0.002	T	0.31806	-0.9930	10	0.02654	T	1	-15.9669	3.5666	0.07903	0.1971:0.2926:0.4098:0.1005	.	73;502;492;497	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	D	497;430;428;502;492;73	ENSP00000385143:E497D;ENSP00000392739:E430D;ENSP00000287272:E428D;ENSP00000412652:E502D;ENSP00000394303:E492D;ENSP00000397211:E73D	ENSP00000287272:E428D	E	+	3	2	UNC5D	35703399	0.011000	0.17503	0.998000	0.56505	0.888000	0.51559	-0.587000	0.05780	0.113000	0.18004	0.563000	0.77884	GAG		0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			36	243	1	0	1.90571e-15	1	2.08261e-15	36	243					T	35583857	G	T	35583857	3	4	79	1	0	0	0	0	1	0	0	0	17049	933	33	3	1529	3	UNC5D	8	35583857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158152	35583857	110780165	9329	19646											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					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)				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)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				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						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237	200	213					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	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.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	838						8	838	---	---	---	---	-	35608248	T	-	35608248	7	5	79	1	0	1	0	1	0	0	0	0	17049	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	24391	35608248	110755774	9330	19647											
KCNU1	157855	broad.mit.edu	37	chr8	36644856	36644856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaccatcgctaggagCcatgtaagaagcctccactt	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36644856C>T	ENST00000399881.3	+	2	265	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	76					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)			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)		TCGCTAGGAGCCATGTAAGAA	0.423																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(226-228)agC>agT		potassium channel, subfamily U, member 1							88	85	86					8																	36644856		1927	4117	6044	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644856C>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.228C>T	8.37:g.36644856C>T							p.S76S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	265	+			76						Silent	SNP	ENST00000399881.3	37	c.228C>T	CCDS55220.1																																																																																				0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	83	0	0	0	1	0	4	83					T	36644856	C	T	36644856	2	4	79	1	0	0	0	0	0	0	0	1	8123	738	26	2		2	KCNU1	8	36644856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1036608	36644856	109719166	9331	19648											
KCNU1	157855	broad.mit.edu	37	chr8	36694367	36694367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggagacaacatcatctgCtttgctgaattaaaacttgg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	474	RCK N-terminal.				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)			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)		ACATCATCTGCTTTGCTGAAT	0.428																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1420-1422)tgC>tgT		potassium channel, subfamily U, member 1							148	147	147					8																	36694367		1872	4116	5988	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36694367C>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.1422C>T	8.37:g.36694367C>T							p.C474C	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	14	1459	+			474			RCK N-terminal.			Silent	SNP	ENST00000399881.3	37	c.1422C>T	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		46	469	0	0	0	1	0	46	469					T	36694367	C	T	36694367	2	4	79	1	0	0	0	0	0	0	0	1	8123	805	28	2		2	KCNU1	8	36694367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49511	36694367	109669655	9332	19649											
KCNU1	157855	broad.mit.edu	37	chr8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagacaacagagacacatTcagacacaaattgtcctccc	5	14	1	3	rs138865963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1070					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)			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)		AGAGACACATTCAGACACAAA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		20953	0.0		0.001	False		,,,				2504	0.0					ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3208-3210)Tca>Gca		potassium channel, subfamily U, member 1							141	138	139					8																	36793196		1928	4144	6072	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793196T>G	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.3208T>G	8.37:g.36793196T>G	ENSP00000382770:p.Ser1070Ala						p.S1070A	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3245	+			1070						Missense_Mutation	SNP	ENST00000399881.3	37	c.3208T>G	CCDS55220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.024	0.559231	0.13436	.	.	ENSG00000215262	ENST00000399881	T	0.35605	1.3	4.96	-9.93	0.00452	.	.	.	.	.	T	0.18800	0.0451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.62326	D	0.03	.	0.384	0.00399	0.3759:0.1556:0.229:0.2394	.	1070	A8MYU2	KCNU1_HUMAN	A	1070	ENSP00000382770:S1070A	ENSP00000382770:S1070A	S	+	1	0	KCNU1	36912354	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.320000	0.00513	-3.904000	0.00093	-1.119000	0.02030	TCA		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		104	395	0	0	0	1	0	104	395					G	36793196	T	G	36793196	3	3	79	1	0	0	0	0	1	0	0	0	8123	1783	62	4	3314	4	KCNU1	8	36793196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98829	36793196	109570826	9333	19650											
GPR124	25960	broad.mit.edu	37	chr8	37687516	37687516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggcagcctccaggaGgcccagctctgctgcggtga	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	ENST00000412232.2	+	6	715	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_ENST00000315215.7_Missense_Mutation_p.E234D	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	234	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCAGGAGGCCCAGCTCT	0.667																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(700-702)gaG>gaT		G protein-coupled receptor 124							21	18	19					8																	37687516		2199	4293	6492	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687516G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.702G>T	8.37:g.37687516G>T	ENSP00000406367:p.Glu234Asp					GPR124_ENST00000412232.2_Missense_Mutation_p.E234D	p.E234D			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	1065	+			234			LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.702G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254261	0.22965	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59083	0.29;0.37	5.21	0.839	0.18907	Cysteine-rich flanking region, C-terminal (1);	0.058404	0.64402	D	0.000003	T	0.40956	0.1138	L	0.42632	1.34	0.29098	N	0.881634	B;B	0.26512	0.151;0.012	B;B	0.28553	0.091;0.012	T	0.17930	-1.0353	9	.	.	.	-29.2225	3.1779	0.06575	0.2881:0.0944:0.4902:0.1273	.	234;234	Q96PE1-2;Q96PE1	.;GP124_HUMAN	D	227;234;234	ENSP00000323508:E234D;ENSP00000406367:E234D	.	E	+	3	2	GPR124	37806674	0.046000	0.20272	0.969000	0.41365	0.417000	0.31264	0.393000	0.20817	0.205000	0.20568	-0.448000	0.05591	GAG		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	50	1	0	9.05144e-12	1	9.67624e-12	14	50					T	37687516	G	T	37687516	3	4	79	1	0	0	0	0	1	0	0	0	6667	991	35	3	703	3	GPR124	8	37687516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894320	37687516	108676506	9334	19651											
GPR124	25960	broad.mit.edu	37	chr8	37691268	37691268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgtgtacacagccgaGgccgctagcttttcagacat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000412232.2	+	10	1372	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000315215.7_Silent_p.E453E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	453					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1357-1359)gaG>gaA		G protein-coupled receptor 124							107	102	104					8																	37691268		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691268G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1359G>A	8.37:g.37691268G>A						GPR124_ENST00000412232.2_Silent_p.E453E	p.E453E			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		10	1722	+			453					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1359G>A	CCDS6097.2																																																																																				0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			96	369	0	0	0	1	0	96	369					A	37691268	G	A	37691268	2	1	79	1	0	0	0	0	0	0	0	1	6667	991	35	2		2	GPR124	8	37691268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3752	37691268	108672754	9335	19652											
BRF2	25960	broad.mit.edu	37	chr8	37702272	37702272	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctccccttctccttgCccctgtccccaccccggtgg	6	24	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702272C>T	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.G332G|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTTCTCCTTGCCCCTGTCCCC	0.617																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(994-996)ggG>ggA		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							42	40	41					8																	37702272		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702272C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702272C>T						GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	p.G332G	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1116	-		Lung NSC(58;0.118)|all_lung(54;0.195)	332					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.996G>A	CCDS6097.2																																																																																				0.617	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			56	193	0	0	0	1	0	56	193					T	37702272	C	T	37702272	1	4	79	0	1	0	0	0	0	0	0	0	1515	726	26	2		2	BRF2	8	37702272	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11004	37702272	108661750	9336	19653											
BRF2	25960	broad.mit.edu	37	chr8	37702377	37702377	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgctggagaaggtcaccGatgtgcttcaccacagaccg	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702377G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.I297I|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAGGTCACCGATGTGCTTCA	0.627																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(889-891)atC>atT		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							77	67	71					8																	37702377		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702377G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702377G>A						GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	p.I297I	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1011	-		Lung NSC(58;0.118)|all_lung(54;0.195)	297					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.891C>T	CCDS6097.2																																																																																				0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			75	310	0	0	0	1	0	75	310					A	37702377	G	A	37702377	1	1	79	0	1	0	0	0	0	0	0	0	1515	1048	37	1		1	BRF2	8	37702377	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	37702377	108661645	9337	19654											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtcatcagagacagcaaaGaggacctcctgctctctggc	10	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	435					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGACAGCAAAGAGGACCTCCT	0.562																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1303-1305)tCt>tAt		RAB11 family interacting protein 1 (class I)							122	113	116					8																	37732351		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732351G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1304C>A	8.37:g.37732351G>T	ENSP00000331342:p.Ser435Tyr					RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y	p.S435Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1316	-		Lung NSC(58;0.118)|all_lung(54;0.195)	435					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1304C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050679	0.55218	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38240	1.95;1.95;1.23;1.15	4.91	4.91	0.64330	.	0.312246	0.28093	N	0.016627	T	0.56819	0.2011	M	0.72894	2.215	0.34544	D	0.71056	D;D;D;D	0.76494	0.989;0.99;0.993;0.999	P;D;P;D	0.64595	0.768;0.912;0.884;0.927	T	0.70171	-0.4945	10	0.56958	D	0.05	-6.8887	14.5917	0.68371	0.0:0.1465:0.8535:0.0	.	287;287;435;435	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Y	435;435;287;287	ENSP00000287263:S435Y;ENSP00000331342:S435Y;ENSP00000430009:S287Y;ENSP00000430680:S287Y	ENSP00000287263:S435Y	S	-	2	0	RAB11FIP1	37851509	1.000000	0.71417	0.925000	0.36789	0.612000	0.37316	4.742000	0.62103	2.264000	0.75181	0.563000	0.77884	TCT		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		84	787	1	0	2.13026e-44	1	2.60662e-44	84	787					T	37732351	G	T	37732351	3	4	79	1	0	0	0	0	1	0	0	0	12943	942	33	3	2563	3	RAB11FIP1	8	37732351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29974	37732351	108631671	9338	19655											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732467	37732467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggggcaggtcggtaggaCggcagggtcatagacttcaa	17	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	396					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTCGGTAGGACGGCAGGGTCA	0.577																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1186-1188)ccG>ccA		RAB11 family interacting protein 1 (class I)							56	54	55					8																	37732467		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732467C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1188G>A	8.37:g.37732467C>T						RAB11FIP1_ENST00000287263.4_Silent_p.P396P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000522727.1_Silent_p.P248P	p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1200	-		Lung NSC(58;0.118)|all_lung(54;0.195)	396					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1188G>A	CCDS34882.1																																																																																				0.577	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		88	351	0	0	0	1	0	88	351					T	37732467	C	T	37732467	2	4	79	1	0	0	0	0	0	0	0	1	12943	523	19	1		1	RAB11FIP1	8	37732467	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	37732467	108631555	9339	19656											
GOT1L1	137362	broad.mit.edu	37	chr8	37794814	37794814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccacattgaggagtAtgtcggggtccatgcatagc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37794814A>G	ENST00000307599.4	-	4	599	c.500T>C	c.(499-501)aTa>aCa	p.I167T	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	167					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGAGGAGTATGTCGGGGTC	0.527																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(499-501)aTa>aCa		glutamic-oxaloacetic transaminase 1-like 1							45	44	44					8																	37794814		1870	4098	5968	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794814A>G	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.500T>C	8.37:g.37794814A>G	ENSP00000303077:p.Ile167Thr						p.I167T	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	599	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	167					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.500T>C	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618961	0.14129	.	.	ENSG00000169154	ENST00000307599	D	0.90197	-2.63	5.04	0.786	0.18590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.638950	0.04042	N	0.303177	D	0.83760	0.5324	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.70854	-0.4759	10	0.72032	D	0.01	0.6327	4.5629	0.12168	0.4287:0.1544:0.0:0.4168	.	167	Q8NHS2	AATC2_HUMAN	T	167	ENSP00000303077:I167T	ENSP00000303077:I167T	I	-	2	0	GOT1L1	37913971	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.839000	0.27586	0.237000	0.21200	-0.468000	0.05107	ATA		0.527	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		5	98	0	0	0	1	0	5	98					G	37794814	A	G	37794814	3	3	79	1	0	0	0	0	1	0	0	0	6609	449	16	4	634	4	GOT1L1	8	37794814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62347	37794814	108569208	9340	19657											
STAR	6770	broad.mit.edu	37	chr8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcccttcaccttgaggtCgatgctgagtagccacgtaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	246	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(736-738)Gac>Aac		steroidogenic acute regulatory protein							122	99	107					8																	38002748		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38002748C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.736G>A	8.37:g.38002748C>T	ENSP00000276449:p.Asp246Asn						p.D246N	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	6	1182	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	246			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.736G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417682	0.83449	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84370	-1.84	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.92218	0.5782	10	0.45353	T	0.12	-45.589	20.1931	0.98233	0.0:1.0:0.0:0.0	.	208;246	E7ETA9;P49675	.;STAR_HUMAN	N	246;208	ENSP00000276449:D246N	ENSP00000276449:D246N	D	-	1	0	STAR	38121905	1.000000	0.71417	0.997000	0.53966	0.473000	0.32948	6.559000	0.73946	2.771000	0.95319	0.563000	0.77884	GAC		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		58	267	0	0	0	1	0	58	267					T	38002748	C	T	38002748	3	4	79	1	0	0	0	0	1	0	0	0	15306	884	31	1	129	1	STAR	8	38002748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	38002748	108361274	9341	19658											
STAR	6770	broad.mit.edu	37	chr8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttaccgagtagagagCtccgccgccgaacctggtta	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	56					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(166-168)aGc>aAc		steroidogenic acute regulatory protein							44	47	46					8																	38006170		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006170C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.167G>A	8.37:g.38006170C>T	ENSP00000276449:p.Ser56Asn						p.S56N	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	613	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	56					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.167G>A	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.55|19.55	3.848541|3.848541	0.71603|0.71603	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449	.|D	.|0.86366	.|-2.11	5.39|5.39	5.39|5.39	0.77823|0.77823	.|START-like domain (1);	.|0.035602	.|0.85682	.|D	.|0.000000	D|D	0.86859|0.86859	0.6034|0.6034	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.82099|0.82099	-0.0625|-0.0625	5|10	.|0.33940	.|T	.|0.23	-21.6343|-21.6343	19.5117|19.5117	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56	.|P49675	.|STAR_HUMAN	T|N	35|56	.|ENSP00000276449:S56N	.|ENSP00000276449:S56N	A|S	-|-	1|2	0|0	STAR|STAR	38125327|38125327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	2.710000|2.710000	0.47169|0.47169	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.642	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		47	230	0	0	0	1	0	47	230					T	38006170	C	T	38006170	3	4	79	1	0	0	0	0	1	0	0	0	15306	797	28	2	714	2	STAR	8	38006170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3422	38006170	108357852	9342	19659											
STAR	6770	broad.mit.edu	37	chr8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctgatggccatcacaGcctgttgcctcagccctgca	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	27					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(79-81)gCt>gTt		steroidogenic acute regulatory protein							31	34	33					8																	38006257		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006257G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.80C>T	8.37:g.38006257G>A	ENSP00000276449:p.Ala27Val						p.A27V	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	526	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	27					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.80C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169796	0.78452	.	.	ENSG00000147465	ENST00000276449	D	0.91295	-2.82	5.28	5.28	0.74379	.	0.046597	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81112	2.525	0.80722	D	1	D	0.56968	0.978	P	0.57468	0.821	D	0.95149	0.8271	10	0.87932	D	0	-11.4038	19.2762	0.94032	0.0:0.0:1.0:0.0	.	27	P49675	STAR_HUMAN	V	27	ENSP00000276449:A27V	ENSP00000276449:A27V	A	-	2	0	STAR	38125414	1.000000	0.71417	0.098000	0.21074	0.326000	0.28443	8.819000	0.91997	2.630000	0.89119	0.462000	0.41574	GCT		0.602	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		30	184	0	0	0	1	0	30	184					A	38006257	G	A	38006257	3	1	79	1	0	0	0	0	1	0	0	0	15306	971	34	2	801	2	STAR	8	38006257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	38006257	108357765	9343	19660											
DDHD2	23259	broad.mit.edu	37	chr8	38103326	38103326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccaatgacacaattctGgatgtcttcttctacaatag	5	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Silent_p.L305L|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	305					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACACAATTCTGGATGTCTTCT	0.423																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(913-915)ctG>ctA		DDHD domain containing 2							141	142	142					8																	38103326		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38103326G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.915G>A	8.37:g.38103326G>A						DDHD2_ENST00000520272.2_Silent_p.L305L|DDHD2_ENST00000528888.1_3'UTR	p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		8	1440	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	305					B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.915G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813372	0.16537	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.55	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0366	13.9591	0.64168	0.0733:0.0:0.9267:0.0	.	.	.	.	X	98	.	.	W	+	2	0	DDHD2	38222483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	1.482000	0.48325	0.585000	0.79938	TGG		0.423	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		128	602	0	0	0	1	0	128	602					A	38103326	G	A	38103326	2	1	79	1	0	0	0	0	0	0	0	1	4338	1335	47	2		2	DDHD2	8	38103326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97069	38103326	108260696	9344	19661											
DDHD2	23259	broad.mit.edu	37	chr8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcgctaaatattgtaatgGatcaaggagatacacctaca	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	383					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATTGTAATGGATCAAGGAGA	0.299																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1147-1149)Gat>Tat		DDHD domain containing 2							58	63	62					8																	38105252		2203	4295	6498	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38105252G>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1147G>T	8.37:g.38105252G>T	ENSP00000380352:p.Asp383Tyr					DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000528888.1_3'UTR	p.D383Y	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		10	1672	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	383					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1147G>T	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360789	0.61403	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T	0.33438	1.41;1.41	5.88	5.88	0.94601	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.876669	0.10238	N	0.698732	T	0.29458	0.0734	L	0.50333	1.59	0.80722	D	1	B;B	0.26041	0.14;0.028	B;B	0.26770	0.073;0.015	T	0.14952	-1.0454	10	0.02654	T	1	-3.7601	15.7372	0.77853	0.0:0.0:1.0:0.0	.	195;383	B4DSR3;O94830	.;DDHD2_HUMAN	Y	383;383;195;2	ENSP00000380352:D383Y;ENSP00000429932:D383Y	ENSP00000380352:D383Y	D	+	1	0	DDHD2	38224409	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	6.196000	0.72094	2.788000	0.95919	0.555000	0.69702	GAT		0.299	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		46	264	1	0	2.40228e-13	1	2.59309e-13	46	264					T	38105252	G	T	38105252	3	4	79	1	0	0	0	0	1	0	0	0	4338	1174	41	3	1243	3	DDHD2	8	38105252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1926	38105252	108258770	9345	19662											
PPAPDC1B	84513	broad.mit.edu	37	chr8	38123804	38123804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgccaggtagaaggaCgcaaaggccagaccagcaaa	11	12	0	2	rs561458814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000424479.2	-	6	509	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	163					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.001					ENST00000529359.1																			0				kidney(1)|lung(1)	2						c.(364-366)gcG>gcA		phosphatidic acid phosphatase type 2 domain containing 1B																																				SO:0001819	synonymous_variant	84513				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity	g.chr8:38123804C>T	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.489G>A	8.37:g.38123804C>T						PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000424479.2_Silent_p.A163A	p.A122A			Q8NEB5	PPC1B_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)		5	564	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	163					C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	37	c.366G>A	CCDS47841.1																																																																																				0.473	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483		11	83	0	0	0	1	0	11	83					T	38123804	C	T	38123804	2	4	79	1	0	0	0	0	0	0	0	1	12336	523	19	1		1	PPAPDC1B	8	38123804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18552	38123804	108240218	9346	19663											
C8orf86	389649	broad.mit.edu	37	chr8	38369971	38369971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttgtcccaccccagGgtttctaattcaggagttct	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527																																						ENST00000358138.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(604-606)acC>acT		chromosome 8 open reading frame 86							49	51	50					8																	38369971		2203	4300	6503	SO:0001819	synonymous_variant	389649							g.chr8:38369971G>A	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.606C>T	8.37:g.38369971G>A						C8orf86_ENST00000437935.2_3'UTR	p.T202T	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN			3	630	-			202					A4QPB7	Silent	SNP	ENST00000358138.1	37	c.606C>T	CCDS6108.1																																																																																				0.527	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		64	268	0	0	0	1	0	64	268					A	38369971	G	A	38369971	2	1	79	1	0	0	0	0	0	0	0	1	2449	1219	43	2		2	C8orf86	8	38369971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246167	38369971	107994051	9347	19664											
TACC1	6867	broad.mit.edu	37	chr8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctcatggctgtgtaActgcagtctcaggcaaggct	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000317827.4	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	176	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCTGTGTAACTGCAGTCTC	0.557																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(526-528)Act>Gct		transforming, acidic coiled-coil containing protein 1							76	79	78					8																	38677288		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677288A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.526A>G	8.37:g.38677288A>G	ENSP00000321703:p.Thr176Ala					TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000317827.4_Missense_Mutation_p.T176A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.T176A			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	905	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	176			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.526A>G	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168925	0.09339	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.14;3.13;2.95;3.15;3.15	4.65	-1.92	0.07618	.	0.905143	0.09444	N	0.801377	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.0;0.085;0.228	B;B;B	0.27796	0.001;0.039;0.083	T	0.44236	-0.9341	10	0.11182	T	0.66	0.1713	5.7161	0.17960	0.2284:0.3746:0.397:0.0	.	192;176;131	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	A	192;131;148;176;176	ENSP00000393647:T192A;ENSP00000428706:T131A;ENSP00000430355:T148A;ENSP00000321703:T176A;ENSP00000369263:T176A	ENSP00000321703:T176A	T	+	1	0	TACC1	38796445	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-0.796000	0.04575	-0.203000	0.10251	0.460000	0.39030	ACT		0.557	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		17	553	0	0	0	1	0	17	553					G	38677288	A	G	38677288	3	3	79	1	0	0	0	0	1	0	0	0	15553	43	2	4	536	4	TACC1	8	38677288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	307317	38677288	107686734	9348	19665											
TACC1	6867	broad.mit.edu	37	chr8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgccttccagcccgCcagacgccctccaggacgag	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000317827.4	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	188	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(562-564)Cca>Tca		transforming, acidic coiled-coil containing protein 1							57	61	60					8																	38677324		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677324C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.562C>T	8.37:g.38677324C>T	ENSP00000321703:p.Pro188Ser					TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000317827.4_Missense_Mutation_p.P188S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.P188S			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	941	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	188			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.562C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931298	0.02359	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.11604	2.95;2.91;2.76;3.0;3.01	4.76	1.72	0.24424	.	0.465646	0.19722	N	0.107580	T	0.04003	0.0112	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36407	-0.9749	10	0.23891	T	0.37	-1.0066	0.6547	0.00832	0.1877:0.3759:0.1825:0.2539	.	204;188;143	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	S	204;143;160;188;188	ENSP00000393647:P204S;ENSP00000428706:P143S;ENSP00000430355:P160S;ENSP00000321703:P188S;ENSP00000369263:P188S	ENSP00000321703:P188S	P	+	1	0	TACC1	38796481	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.160000	0.16462	0.599000	0.29845	-1.259000	0.01468	CCA		0.582	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		96	392	0	0	0	1	0	96	392					T	38677324	C	T	38677324	3	4	79	1	0	0	0	0	1	0	0	0	15553	739	26	2	572	2	TACC1	8	38677324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	38677324	107686698	9349	19666											
TACC1	6867	broad.mit.edu	37	chr8	38678031	38678031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacccagataactttgaCgaatccatggatccctttaa	6	10	0	3	rs374553789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000317827.4	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	423	Interaction with YEATS4.|SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1267-1269)gaC>gaT		transforming, acidic coiled-coil containing protein 1		C	,,	0,4406		0,0,2203	158	171	166		,684,1269	-6.1	0.3	8		166	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,228/611,423/806	38678031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38678031C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1269C>T	8.37:g.38678031C>T						TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000317827.4_Silent_p.D423D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.D423D			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1648	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	423			Interaction with YEATS4.|SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.1269C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589634	0.13812	0.0	1.16E-4	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.69	-6.11	0.02131	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	-10.6288	10.8991	0.47040	0.0:0.233:0.0937:0.6733	.	.	.	.	M	198;61	.	.	T	+	2	0	TACC1	38797188	0.101000	0.21875	0.274000	0.24659	0.684000	0.39900	-0.691000	0.05133	-1.564000	0.01678	-0.768000	0.03414	ACG		0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		186	918	0	0	0	1	0	186	918					T	38678031	C	T	38678031	2	4	79	1	0	0	0	0	0	0	0	1	15553	535	19	1		1	TACC1	8	38678031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	707	38678031	107685991	9350	19667											
ADAM9	8754	broad.mit.edu	37	chr8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcagaaaaagtgtcatgGacatggggtaggtaatgttt	13	3	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	652	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGTGTCATGGACATGGGGTA	0.358																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1954-1956)gGa>gAa		ADAM metallopeptidase domain 9							205	200	201					8																	38940233		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38940233G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1955G>A	8.37:g.38940233G>A	ENSP00000419446:p.Gly652Glu					ADAM9_ENST00000484143.1_3'UTR	p.G652E	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		17	2033	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	652			EGF-like.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1955G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951111	0.92660	.	.	ENSG00000168615	ENST00000487273	D	0.97232	-4.3	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052098	0.85682	D	0.000000	D	0.97688	0.9242	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	D	0.97468	1.0039	10	0.46703	T	0.11	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	652	Q13443	ADAM9_HUMAN	E	652	ENSP00000419446:G652E	ENSP00000369249:G652E	G	+	2	0	ADAM9	39059390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	2.803000	0.96430	0.650000	0.86243	GGA		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			77	324	0	0	0	1	0	77	324					A	38940233	G	A	38940233	3	1	79	1	0	0	0	0	1	0	0	0	253	1174	41	2	2021	2	ADAM9	8	38940233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262202	38940233	107423789	9351	19668											
ADAM32	203102	broad.mit.edu	37	chr8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaacaagtgccattgttCgccaggctataagcctccaa	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1933-1935)tCg>tTg		ADAM metallopeptidase domain 32							48	46	47					8																	39111964		1831	4079	5910	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111964C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1934C>T	8.37:g.39111964C>T	ENSP00000369238:p.Ser645Leu					ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	p.S645L	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		18	2061	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	645			EGF-like.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1934C>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		9	64	0	0	0	1	0	9	64					T	39111964	C	T	39111964	3	4	79	1	0	0	0	0	1	0	0	0	249	893	31	1	2004	1	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171731	39111964	107252058	9352	19669											
ADAM18	8749	broad.mit.edu	37	chr8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgctccatttgcctgTtttaaagaagttaattctct	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	517	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTTGCCTGTTTTAAAGAAG	0.328																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1549-1551)tgT>tgG		ADAM metallopeptidase domain 18							84	83	83					8																	39534975		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39534975T>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1551T>G	8.37:g.39534975T>G	ENSP00000265707:p.Cys517Trp					ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W|ADAM18_ENST00000541111.1_5'UTR	p.C517W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		15	1596	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	517			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1551T>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805065	0.50315	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63744	-0.06;-0.06	4.3	0.516	0.17019	ADAM, cysteine-rich (2);	0.000000	0.51477	D	0.000091	T	0.81997	0.4941	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79645	-0.1717	10	0.87932	D	0	.	6.6061	0.22726	0.0:0.265:0.0:0.735	.	493;517	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	517;493;449	ENSP00000265707:C517W;ENSP00000369195:C493W	ENSP00000265707:C517W	C	+	3	2	ADAM18	39654132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.157000	0.16402	0.085000	0.17107	0.460000	0.39030	TGT		0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		40	183	0	0	0	1	0	40	183					G	39534975	T	G	39534975	3	3	79	1	0	0	0	0	1	0	0	0	239	1731	60	4	1609	4	ADAM18	8	39534975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423011	39534975	106829047	9353	19670											
ADAM18	8749	broad.mit.edu	37	chr8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatgtaacagagagaatGcagagtataatcggtaaata	9	4	1	3	rs372659771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	722					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGAGAGAATGCAGAGTATAA	0.279																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(2164-2166)Gca>Aca		ADAM metallopeptidase domain 18			THR/ALA	1,4403		0,1,2201	86	92	90		2164	-5.6	0	8		90	0,8594		0,0,4297	no	missense	ADAM18	NM_014237.2	58	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	722/740	39581413	1,12997	2202	4297	6499	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39581413G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2164G>A	8.37:g.39581413G>A	ENSP00000265707:p.Ala722Thr					ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000523755.1_3'UTR	p.A722T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		19	2209	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	722					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.2164G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091009	0.08632	2.27E-4	0.0	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93859	-3.3;-3.3;-3.3	4.7	-5.63	0.02474	.	1.710450	0.03277	N	0.185673	T	0.79730	0.4496	N	0.04994	-0.135	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.72207	-0.4360	10	0.15499	T	0.54	.	1.4074	0.02283	0.2341:0.1267:0.3875:0.2518	.	698;722	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	722;698;136	ENSP00000265707:A722T;ENSP00000369195:A698T;ENSP00000444729:A136T	ENSP00000265707:A722T	A	+	1	0	ADAM18	39700570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.137000	0.03219	-0.649000	0.05430	-0.442000	0.05670	GCA		0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		54	232	0	0	0	1	0	54	232					A	39581413	G	A	39581413	3	1	79	1	0	0	0	0	1	0	0	0	239	1319	46	2	2238	2	ADAM18	8	39581413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46438	39581413	106782609	9354	19671											
ADAM2	2515	broad.mit.edu	37	chr8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccagggagtctggctgGtatagctacaggtggaaaat	13	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000265708.4	-	18	2102	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	667					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTCTGGCTGGTATAGCTACA	0.333																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1999-2001)Cca>Tca		ADAM metallopeptidase domain 2							60	60	60					8																	39606846		2203	4298	6501	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39606846G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1999C>T	8.37:g.39606846G>A	ENSP00000265708:p.Pro667Ser					ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S|ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S	p.P667S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	18	2102	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	667					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1999C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444814	0.04604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02032	5.13;4.49;5.37;5.3	1.93	-3.85	0.04243	.	.	.	.	.	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	B;B;P;B	0.38078	0.036;0.127;0.617;0.007	B;B;B;B	0.37144	0.013;0.045;0.242;0.006	T	0.43458	-0.9390	9	0.12430	T	0.62	.	6.3253	0.21240	0.0:0.5358:0.2579:0.2063	.	604;511;648;667	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	648;511;667;604	ENSP00000343854:P648S;ENSP00000369182:P511S;ENSP00000265708:P667S;ENSP00000429352:P604S	ENSP00000265708:P667S	P	-	1	0	ADAM2	39726003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.825000	0.00747	-1.126000	0.02929	-0.300000	0.09419	CCA		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		60	267	0	0	0	1	0	60	267					A	39606846	G	A	39606846	3	1	79	1	0	0	0	0	1	0	0	0	241	1261	44	2	220	2	ADAM2	8	39606846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25433	39606846	106757176	9355	19672											
IDO1	3620	broad.mit.edu	37	chr8	39780089	39780089	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaacatggacgttttgttCtcatttcgtgatggagactg	12	6	1	2	rs115833371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	152					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ACGTTTTGTTCTCATTTCGTG	0.373																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(454-456)ttC>ttT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						136	125	128					8																	39780089		1857	4109	5966	SO:0001819	synonymous_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39780089C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.456C>T	8.37:g.39780089C>T						IDO1_ENST00000522495.1_Silent_p.F152F|RP11-44K6.3_ENST00000517623.1_RNA	p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			6	1095	+			152					Q540B4	Silent	SNP	ENST00000518237.1	37	c.456C>T	CCDS47847.1																																																																																				0.373	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		51	198	0	0	0	1	0	51	198					T	39780089	C	T	39780089	2	4	79	1	0	0	0	0	0	0	0	1	7531	912	32	2		2	IDO1	8	39780089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173243	39780089	106583933	9356	19673											
IDO2	169355	broad.mit.edu	37	chr8	39872830	39872830	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggccttcatagaagacatCcactcagcaccttccctgag	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000389060.4	+	10	933	c.933C>T	c.(931-933)atC>atT	p.I311I	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Silent_p.I324I			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	311					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(970-972)atC>atT		indoleamine 2,3-dioxygenase 2							94	88	90					8																	39872830		2019	4181	6200	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39872830C>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.933C>T	8.37:g.39872830C>T						IDO2_ENST00000389060.4_Silent_p.I311I|IDO2_ENST00000343295.4_3'UTR	p.I324I	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1214	+			311					A4UD41	Silent	SNP	ENST00000389060.4	37	c.972C>T																																																																																					0.498	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		36	180	0	0	0	1	0	36	180					T	39872830	C	T	39872830	2	4	79	1	0	0	0	0	0	0	0	1	7532	845	30	2		2	IDO2	8	39872830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92741	39872830	106491192	9357	19674											
IDO2	169355	broad.mit.edu	37	chr8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcagggataagacctTggagtcaatccttcacccac	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000389060.4	+	10	1196	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.L412S			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	399					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1234-1236)tTg>tCg		indoleamine 2,3-dioxygenase 2							101	99	100					8																	39873093		1971	4152	6123	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39873093T>C	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1196T>C	8.37:g.39873093T>C	ENSP00000426447:p.Leu399Ser					IDO2_ENST00000389060.4_Missense_Mutation_p.L399S|IDO2_ENST00000343295.4_3'UTR	p.L412S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1477	+			399					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.1235T>C		.	.	.	.	.	.	.	.	.	.	T	7.742	0.701517	0.15172	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46819	0.86;0.86	5.93	1.95	0.26073	.	0.356037	0.26700	N	0.022959	T	0.28764	0.0713	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.12837	0.005;0.008	T	0.09487	-1.0672	9	.	.	.	.	1.7147	0.02899	0.2668:0.0793:0.1567:0.4972	.	412;399	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	412;399	ENSP00000443432:L412S;ENSP00000426447:L399S	.	L	+	2	0	IDO2	39992250	0.009000	0.17119	0.005000	0.12908	0.014000	0.08584	0.496000	0.22499	0.455000	0.26910	0.533000	0.62120	TTG		0.567	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		78	383	0	0	0	1	0	78	383					C	39873093	T	C	39873093	3	2	79	1	0	0	0	0	1	0	0	0	7532	1821	63	4	1277	4	IDO2	8	39873093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263	39873093	106490929	9358	19675											
SFRP1	6422	broad.mit.edu	37	chr8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccacttgtggatggccGtcagcaagtactggctcttc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000220772.3	-	3	1182	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	282	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(844-846)aCg>aTg		secreted frizzled-related protein 1							126	107	113					8																	41122786		2203	4300	6503	SO:0001583	missense	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41122786G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.845C>T	8.37:g.41122786G>A	ENSP00000220772:p.Thr282Met					SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	p.T282M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		3	1182	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	282			NTR.		O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.845C>T	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255938	0.80135	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.27557	1.66;1.66	4.7	4.7	0.59300	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	P	0.42757	0.789	B	0.41332	0.354	T	0.17258	-1.0375	10	0.41790	T	0.15	.	16.8129	0.85725	0.0:0.0:1.0:0.0	.	282	Q8N474	SFRP1_HUMAN	M	282;146;282	ENSP00000220772:T282M;ENSP00000369174:T146M	ENSP00000220772:T282M	T	-	2	0	SFRP1	41241943	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	5.449000	0.66619	2.444000	0.82710	0.563000	0.77884	ACG		0.498	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		85	303	0	0	0	1	0	85	303					A	41122786	G	A	41122786	3	1	79	1	0	0	0	0	1	0	0	0	14211	1145	40	1	103	1	SFRP1	8	41122786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1249693	41122786	105241236	9359	19676											
SFRP1	6422	broad.mit.edu	37	chr8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagagatgttcaatgatggCctcagatttcaactcgttgt	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000220772.3	-	2	926	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	197	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(589-591)Gcc>Tcc		secreted frizzled-related protein 1							127	108	114					8																	41161013		2203	4300	6503	SO:0001583	missense	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41161013C>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.589G>T	8.37:g.41161013C>A	ENSP00000220772:p.Ala197Ser					SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	p.A197S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		2	926	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	197			NTR.		O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.589G>T	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931677	0.34096	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.186377	0.46145	D	0.000304	T	0.18425	0.0442	N	0.17474	0.49	0.41152	D	0.986038	B	0.13145	0.007	B	0.14023	0.01	T	0.08310	-1.0728	10	0.09338	T	0.73	.	13.877	0.63660	0.1523:0.8477:0.0:0.0	.	197	Q8N474	SFRP1_HUMAN	S	197;61;197	ENSP00000220772:A197S;ENSP00000369174:A61S	ENSP00000220772:A197S	A	-	1	0	SFRP1	41280170	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	1.723000	0.38053	2.793000	0.96121	0.563000	0.77884	GCC		0.522	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		16	188	1	0	1.37522e-17	1	1.51956e-17	16	188					A	41161013	C	A	41161013	3	1	79	1	0	0	0	0	1	0	0	0	14211	739	26	3	363	3	SFRP1	8	41161013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38227	41161013	105203009	9360	19677											
AGPAT6	137964	broad.mit.edu	37	chr8	41467268	41467268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggacaacactccagagttCgagctctctgacattttcta	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	110					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(328-330)ttC>ttT		1-acylglycerol-3-phosphate O-acyltransferase 6							108	101	103					8																	41467268		2203	4300	6503	SO:0001819	synonymous_variant	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467268C>T	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.330C>T	8.37:g.41467268C>T						RP11-360L9.8_ENST00000581909.1_RNA	p.F110F	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1257	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	110					Q86V89	Silent	SNP	ENST00000396987.3	37	c.330C>T	CCDS6117.1																																																																																				0.448	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		115	436	0	0	0	1	0	115	436					T	41467268	C	T	41467268	2	4	79	1	0	0	0	0	0	0	0	1	391	883	31	1		1	AGPAT6	8	41467268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306255	41467268	104896754	9361	19678											
ANK1	286	broad.mit.edu	37	chr8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcaccctgtatgcaccGggctggccaccgggctgatg	12	16	1	1	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000347528.4	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000289734.7_Missense_Mutation_p.P908L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	908					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTATGCACCGGGCTGGCCAC	0.622																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2722-2724)cCg>cTg		ankyrin 1, erythrocytic		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	38	42	41		2723,2846,2723,2723,2723	5.7	1	8	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	908/1881,949/1898,908/1857,908/1882,908/1720	41554206	1,13005	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554206G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2723C>T	8.37:g.41554206G>A	ENSP00000339620:p.Pro908Leu					ANK1_ENST00000289734.7_Missense_Mutation_p.P908L|ANK1_ENST00000347528.4_Missense_Mutation_p.P908L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L	p.P908L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		25	2806	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	908					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2723C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117445	0.77323	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67171	-0.24;-0.24;-0.21;-0.19;-0.21;-0.2;-0.25	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.83692	2.655	0.80722	D	1	B;B;B;P;B;B	0.37636	0.178;0.414;0.012;0.603;0.178;0.413	B;B;B;B;B;B	0.34138	0.082;0.039;0.01;0.176;0.082;0.037	T	0.74423	-0.3670	10	0.48119	T	0.1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	949;908;908;908;908;224	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	908;908;908;908;908;908;949;908	ENSP00000339620:P908L;ENSP00000289734:P908L;ENSP00000369082:P908L;ENSP00000380149:P908L;ENSP00000380147:P908L;ENSP00000309131:P908L;ENSP00000265709:P949L	ENSP00000265709:P949L	P	-	2	0	ANK1	41673363	1.000000	0.71417	0.962000	0.40283	0.927000	0.56198	9.553000	0.98118	2.686000	0.91538	0.561000	0.74099	CCG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		38	224	0	0	0	1	0	38	224					A	41554206	G	A	41554206	3	1	79	1	0	0	0	0	1	0	0	0	620	1116	39	1	3320	1	ANK1	8	41554206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86938	41554206	104809816	9362	19679											
ANK1	286	broad.mit.edu	37	chr8	41561607	41561607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttcagaagcagagtcacGatgtctgtgtgtccctgctg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000347528.4	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000289734.7_Silent_p.I749I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	749	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGAGTCACGATGTCTGTGT	0.552																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2245-2247)atC>atT		ankyrin 1, erythrocytic							136	122	127					8																	41561607		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41561607G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2247C>T	8.37:g.41561607G>A						ANK1_ENST00000289734.7_Silent_p.I749I|ANK1_ENST00000347528.4_Silent_p.I749I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I	p.I749I			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		20	2330	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	749			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2247C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997392	0.02145	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	6.4693	0.21999	0.5719:0.0725:0.2188:0.1368	.	.	.	.	C	63	.	.	R	-	1	0	ANK1	41680764	0.000000	0.05858	0.062000	0.19696	0.002000	0.02628	-2.265000	0.01172	-2.763000	0.00369	-0.314000	0.08810	CGT		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		82	401	0	0	0	1	0	82	401					A	41561607	G	A	41561607	2	1	79	1	0	0	0	0	0	0	0	1	620	1048	37	1		1	ANK1	8	41561607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41561607	104802415	9363	19680											
ANK1	286	broad.mit.edu	37	chr8	41571725	41571725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagcagcttgacgatGtccaggttgttgtgatggac	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000347528.4	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000396942.1_Silent_p.D583D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000289734.7_Silent_p.D583D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	583	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTTGACGATGTCCAGGTTGT	0.662																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1747-1749)gaC>gaT		ankyrin 1, erythrocytic							27	30	29					8																	41571725		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41571725G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1749C>T	8.37:g.41571725G>A						ANK1_ENST00000289734.7_Silent_p.D583D|ANK1_ENST00000347528.4_Silent_p.D583D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D	p.D583D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		16	1832	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	583			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1749C>T	CCDS6119.1																																																																																				0.662	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		18	97	0	0	0	1	0	18	97					A	41571725	G	A	41571725	2	1	79	1	0	0	0	0	0	0	0	1	620	1368	48	2		2	ANK1	8	41571725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10118	41571725	104792297	9364	19681											
MYST3	7994	broad.mit.edu	37	chr8	41791219	41791219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatctgggtgtagccacTctcaagggcaggcacgttgg	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41791219T>G	ENST00000396930.3	-	18	5062	c.4519A>C	c.(4519-4521)Agt>Cgt	p.S1507R	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507R|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507R	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1507					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTGTAGCCACTCTCAAGGGCA	0.562																																						ENST00000396930.3																			0											c.(4519-4521)Agt>Cgt		K(lysine) acetyltransferase 6A							146	121	129					8																	41791219		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791219T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4519A>C	8.37:g.41791219T>G	ENSP00000380136:p.Ser1507Arg					KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507R|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507R	p.S1507R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5062	-			1507					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4519A>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568113	0.45798	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60797	0.16;0.16;0.16	5.76	3.37	0.38596	.	0.170466	0.53938	D	0.000049	T	0.57784	0.2077	N	0.19112	0.55	0.33496	D	0.589302	D	0.69078	0.997	D	0.73380	0.98	T	0.65681	-0.6109	10	0.48119	T	0.1	-2.5365	8.962	0.35854	0.0:0.1623:0.0:0.8377	.	1507	Q92794	KAT6A_HUMAN	R	1507	ENSP00000265713:S1507R;ENSP00000385888:S1507R;ENSP00000380136:S1507R	ENSP00000265713:S1507R	S	-	1	0	KAT6A	41910376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.524000	0.28502	0.528000	0.53228	AGT		0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		99	363	0	0	0	1	0	99	363					G	41791219	T	G	41791219	3	3	79	1	0	0	0	0	1	0	0	0	10145	1551	54	4	1499	4	MYST3	8	41791219	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219494	41791219	104572803	9365	19682											
AP3M2	10947	broad.mit.edu	37	chr8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaagtgtttaccgccacaaGatcttttttgtggccgtgat	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000520685.1_Intron|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	63					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(187-189)aaG>aaT		adaptor-related protein complex 3, mu 2 subunit							90	89	90					8																	42012394		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42012394G>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.189G>T	8.37:g.42012394G>T	ENSP00000428787:p.Lys63Asn					AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N	p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		3	480	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	63					B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.189G>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699415	0.30142	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.75050	-0.88;-0.88;-0.88;-0.9	5.29	5.29	0.74685	Longin-like (1);AP complex, mu/sigma subunit (1);	0.108971	0.64402	D	0.000009	T	0.43366	0.1244	N	0.01197	-0.965	0.44309	D	0.99718	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52117	-0.8618	10	0.02654	T	1	-23.4747	14.5269	0.67894	0.0:0.1463:0.8537:0.0	.	63;63	E7ER80;P53677	.;AP3M2_HUMAN	N	63	ENSP00000428787:K63N;ENSP00000174653:K63N;ENSP00000380132:K63N;ENSP00000429435:K63N	ENSP00000174653:K63N	K	+	3	2	AP3M2	42131551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	2.477000	0.83638	0.555000	0.69702	AAG		0.488	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			26	307	1	0	2.79863e-10	1	2.965e-10	26	307					T	42012394	G	T	42012394	3	4	79	1	0	0	0	0	1	0	0	0	748	933	33	3	191	3	AP3M2	8	42012394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221175	42012394	104351628	9366	19683											
AP3M2	10947	broad.mit.edu	37	chr8	42019805	42019805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaattgcctcaggaagcaCgaatgtgggtgaccagcttc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	ENST00000518421.1	+	5	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	151					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCAGGAAGCACGAATGTGGGT	0.453																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(451-453)aCg>aTg		adaptor-related protein complex 3, mu 2 subunit							144	148	147					8																	42019805		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42019805C>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.452C>T	8.37:g.42019805C>T	ENSP00000428787:p.Thr151Met					AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M	p.T151M	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		5	743	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	151					B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.452C>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460315	0.84317	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.1;-1.15	5.43	5.43	0.79202	.	0.044642	0.85682	D	0.000000	T	0.81983	0.4938	M	0.78049	2.395	0.58432	D	0.999999	D;P	0.57571	0.98;0.951	P;P	0.46237	0.508;0.453	T	0.82281	-0.0535	10	0.37606	T	0.19	-25.2187	19.6166	0.95636	0.0:1.0:0.0:0.0	.	151;151	E7ER80;P53677	.;AP3M2_HUMAN	M	151;151;151;36;151	ENSP00000428787:T151M;ENSP00000174653:T151M;ENSP00000380132:T151M;ENSP00000430616:T36M;ENSP00000429435:T151M	ENSP00000174653:T151M	T	+	2	0	AP3M2	42138962	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.947000	0.49058	2.721000	0.93114	0.655000	0.94253	ACG		0.453	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			179	795	0	0	0	1	0	179	795					T	42019805	C	T	42019805	3	4	79	1	0	0	0	0	1	0	0	0	748	536	19	1	462	1	AP3M2	8	42019805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7411	42019805	104344217	9367	19684											
AP3M2	10947	broad.mit.edu	37	chr8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaccattgagggagtgActgtcaccagccagatgccc	13	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	309	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(925-927)Act>Gct		adaptor-related protein complex 3, mu 2 subunit							119	107	111					8																	42024803		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42024803A>G	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.925A>G	8.37:g.42024803A>G	ENSP00000428787:p.Thr309Ala					AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A	p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	1216	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	309			MHD.		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.925A>G	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	A	9.609	1.130808	0.21041	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.2	4.01	0.46588	Clathrin adaptor, mu subunit, C-terminal (3);	0.516808	0.21762	N	0.069497	T	0.16342	0.0393	L	0.31926	0.97	0.27209	N	0.959965	B	0.02656	0.0	B	0.09377	0.004	T	0.13764	-1.0497	10	0.27785	T	0.31	0.0121	12.2915	0.54820	0.8585:0.1415:0.0:0.0	.	309	P53677	AP3M2_HUMAN	A	309;309;309;194	ENSP00000428787:T309A;ENSP00000174653:T309A;ENSP00000380132:T309A;ENSP00000430616:T194A	ENSP00000174653:T309A	T	+	1	0	AP3M2	42143960	0.998000	0.40836	0.612000	0.29024	0.571000	0.35966	3.360000	0.52299	0.770000	0.33336	0.533000	0.62120	ACT		0.527	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			55	264	0	0	0	1	0	55	264					G	42024803	A	G	42024803	3	3	79	1	0	0	0	0	1	0	0	0	748	275	10	4	947	4	AP3M2	8	42024803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4998	42024803	104339219	9368	19685											
PLAT	5327	broad.mit.edu	37	chr8	42037456	42037456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttacaggcctcatgctTgccgtagccggagagctcac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42037456T>C	ENST00000220809.4	-	12	1607	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	451	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCCTCATGCTTGCCGTAGCCG	0.662																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1351-1353)Aag>Gag		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						50	34	39					8																	42037456		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42037456T>C		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1351A>G	8.37:g.42037456T>C	ENSP00000220809:p.Lys451Glu					PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E	p.K451E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		12	1607	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	451			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1351A>G	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213068	0.79352	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.133950	0.64402	D	0.000003	D	0.92080	0.7490	L	0.46819	1.47	0.80722	D	1	D;D;D;B;P;D	0.76494	0.995;0.999;0.999;0.259;0.817;0.998	D;D;D;P;B;D	0.80764	0.945;0.982;0.994;0.539;0.142;0.966	D	0.91523	0.5236	10	0.39692	T	0.17	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	325;362;388;451;405;451	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	E	451;451;405;388;325;362	ENSP00000392045:K451E;ENSP00000220809:K451E;ENSP00000270188:K405E;ENSP00000428886:K388E;ENSP00000407861:K325E;ENSP00000429401:K362E	ENSP00000220809:K451E	K	-	1	0	PLAT	42156613	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.612000	0.82975	2.168000	0.68352	0.533000	0.62120	AAG		0.662	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		4	86	0	0	0	1	0	4	86					C	42037456	T	C	42037456	3	2	79	1	0	0	0	0	1	0	0	0	12063	1821	63	4	349	4	PLAT	8	42037456	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12653	42037456	104326566	9369	19686											
PLAT	5327	broad.mit.edu	37	chr8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactcccacgtcagcctgCggttcttcagcacgtggcac	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000220809.4	-	9	1107	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	284	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(850-852)cGc>cAc		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						100	80	86					8																	42039493		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42039493C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.851G>A	8.37:g.42039493C>T	ENSP00000220809:p.Arg284His					PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H	p.R284H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		9	1107	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	284			Kringle 2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.851G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651723	0.03506	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	6.05	-0.0581	0.13798	Kringle (4);Kringle-like fold (1);	0.766331	0.13192	N	0.406602	T	0.44664	0.1304	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.004	T	0.25328	-1.0135	10	0.19590	T	0.45	.	1.122	0.01727	0.3109:0.3407:0.1012:0.2473	.	158;195;284;238;284	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	H	284;284;238;221;158;195	ENSP00000392045:R284H;ENSP00000220809:R284H;ENSP00000270188:R238H;ENSP00000428886:R221H;ENSP00000407861:R158H;ENSP00000429401:R195H	ENSP00000220809:R284H	R	-	2	0	PLAT	42158650	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	-1.321000	0.02697	-0.307000	0.08804	-0.158000	0.13435	CGC		0.522	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		29	161	0	0	0	1	0	29	161					T	42039493	C	T	42039493	3	4	79	1	0	0	0	0	1	0	0	0	12063	768	27	1	861	1	PLAT	8	42039493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	42039493	104324529	9370	19687											
IKBKB	3551	broad.mit.edu	37	chr8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcccagaggaggaccAggagctgctgcaggaagcgg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	351					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAGGAGGACCAGGAGCTGCTG	0.592																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1051-1053)cAg>cGg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						86	78	81					8																	42174349		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42174349A>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1052A>G	8.37:g.42174349A>G	ENSP00000430684:p.Gln351Arg					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R	p.Q351R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		11	1238	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	351					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1052A>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289614	0.95546	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.77313	2.365	0.80722	D	1	P;D;P;D;D;D	0.89917	0.651;0.997;0.593;0.996;0.991;1.0	B;D;B;D;D;D	0.85130	0.198;0.972;0.229;0.944;0.917;0.997	T	0.80089	-0.1528	10	0.87932	D	0	.	15.4872	0.75575	1.0:0.0:0.0:0.0	.	292;349;128;302;351;351	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	351;292;349;128	ENSP00000430684:Q351R;ENSP00000404920:Q292R;ENSP00000430868:Q349R;ENSP00000369030:Q128R	ENSP00000369030:Q128R	Q	+	2	0	IKBKB	42293506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.195000	0.70347	0.528000	0.53228	CAG		0.592	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			30	148	0	0	0	1	0	30	148					G	42174349	A	G	42174349	3	3	79	1	0	0	0	0	1	0	0	0	7641	188	7	4	1090	4	IKBKB	8	42174349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134856	42174349	104189673	9371	19688											
IKBKB	3551	broad.mit.edu	37	chr8	42178258	42178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttccattaggagaaCgaagtgaaactcctggtaga	10	8	0	3	rs202131707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	528					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATTAGGAGAACGAAGTGAAAC	0.567																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1582-1584)aaC>aaT		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)	C	,,	0,4406		0,0,2203	81	82	82		1578,1407,1584	-8.3	0.9	8		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	526/755,469/698,528/757	42178258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42178258C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1584C>T	8.37:g.42178258C>T						IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000379708.3_Silent_p.N305N	p.N528N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		16	1770	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	528					B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.1584C>T	CCDS6128.1																																																																																				0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			95	412	0	0	0	1	0	95	412					T	42178258	C	T	42178258	2	4	79	1	0	0	0	0	0	0	0	1	7641	535	19	1		1	IKBKB	8	42178258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	42178258	104185764	9372	19689											
IKBKB	3551	broad.mit.edu	37	chr8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtctcagccctccacgGcctccaacagcttacctgag	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	694					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCCCTCCACGGCCTCCAACAG	0.597																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(2080-2082)Gcc>Acc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						89	75	79					8																	42183581		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42183581G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2080G>A	8.37:g.42183581G>A	ENSP00000430684:p.Ala694Thr					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T	p.A694T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		20	2266	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	694					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.2080G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126295	0.06795	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75050	-0.82;-0.9;-0.72;2.92	5.59	3.82	0.43975	.	0.700478	0.14486	N	0.316644	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.31586	-0.9938	10	0.19590	T	0.45	-19.7841	7.2678	0.26239	0.1521:0.1388:0.7091:0.0	.	635;692;471;694	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	T	694;635;692;471	ENSP00000430684:A694T;ENSP00000404920:A635T;ENSP00000430868:A692T;ENSP00000369030:A471T	ENSP00000369030:A471T	A	+	1	0	IKBKB	42302738	0.004000	0.15560	0.106000	0.21319	0.013000	0.08279	0.339000	0.19875	0.743000	0.32719	-0.448000	0.05591	GCC		0.597	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			65	261	0	0	0	1	0	65	261					A	42183581	G	A	42183581	3	1	79	1	0	0	0	0	1	0	0	0	7641	1203	42	2	2154	2	IKBKB	8	42183581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5323	42183581	104180441	9373	19690											
POLB	5423	broad.mit.edu	37	chr8	42218842	42218842	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagtggtgacatggatgttCtcctgacccatcccagcttc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42218842C>A	ENST00000265421.4	+	10	750	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	POLB_ENST00000538005.1_Missense_Mutation_p.L40I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	194					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CATGGATGTTCTCCTGACCCA	0.423								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(580-582)Ctc>Atc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						171	143	153					8																	42218842		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42218842C>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.580C>A	8.37:g.42218842C>A	ENSP00000265421:p.Leu194Ile					POLB_ENST00000538005.1_Missense_Mutation_p.L40I	p.L194I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	750	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	194					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.580C>A	CCDS6129.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.86|13.86|13.86	2.363974|2.363974|2.363974	0.41902|0.41902|0.41902	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579;ENST00000517393|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005|ENST00000521290	.|T;T;T;T|.	.|0.57595|.	.|0.39;0.39;0.39;1.1|.	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|DNA-directed DNA polymerase X (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.69079|0.69079|0.69079	0.3071|0.3071|0.3071	L|L|L	0.49640|0.49640|0.49640	1.575|1.575|1.575	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.56746|.	.|0.91;0.977|.	.|P;P|.	.|0.60173|.	.|0.761;0.87|.	T|T|T	0.65417|0.65417|0.65417	-0.6173|-0.6173|-0.6173	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-11.6267|-11.6267|-11.6267	17.0639|17.0639|17.0639	0.86554|0.86554|0.86554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|194;194|.	.|Q53EV2;P06746|.	.|.;DPOLB_HUMAN|.	L|I|Y	51;9|194;40;229;40|124	.|ENSP00000265421:L194I;ENSP00000430610:L40I;ENSP00000430784:L229I;ENSP00000440497:L40I|.	.|ENSP00000265421:L194I|.	F|L|S	+|+|+	3|1|2	2|0|0	POLB|POLB|POLB	42337999|42337999|42337999	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.947000|0.947000|0.947000	0.38551|0.38551|0.38551	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	5.810000|5.810000|5.810000	0.69179|0.69179|0.69179	2.629000|2.629000|2.629000	0.89072|0.89072|0.89072	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTC|TCT		0.423	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		8	244	1	0	0.000274275	1	0.000278163	8	244					A	42218842	C	A	42218842	3	1	79	1	0	0	0	0	1	0	0	0	12231	913	32	3	618	3	POLB	8	42218842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35261	42218842	104145180	9374	19691											
DKK4	27121	broad.mit.edu	37	chr8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcagacaggcactgtgAgccctgtggagggaatctgt	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	39					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547																																						ENST00000220812.2																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(115-117)Tca>Cca		dickkopf WNT signaling pathway inhibitor 4							72	61	65					8																	42233345		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42233345A>G	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.115T>C	8.37:g.42233345A>G	ENSP00000220812:p.Ser39Pro						p.S39P	NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		2	301	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	39					Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.115T>C	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483972	0.26598	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32023	1.47	5.03	1.19	0.21007	.	0.143817	0.32430	N	0.006120	T	0.20047	0.0482	L	0.34521	1.04	0.21473	N	0.999677	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.40728	T	0.16	-7.6035	8.0519	0.30583	0.7474:0.0:0.2526:0.0	.	39	Q9UBT3	DKK4_HUMAN	P	39	ENSP00000220812:S39P	ENSP00000220812:S39P	S	-	1	0	DKK4	42352502	0.596000	0.26866	0.774000	0.31636	0.596000	0.36781	1.928000	0.40104	0.023000	0.15187	0.260000	0.18958	TCA		0.547	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			27	105	0	0	0	1	0	27	105					G	42233345	A	G	42233345	3	3	79	1	0	0	0	0	1	0	0	0	4563	304	11	4	571	4	DKK4	8	42233345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14503	42233345	104130677	9375	19692											
RNF170	81790	broad.mit.edu	37	chr8	42725169	42725169	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaaaagatgtccacagttGgtctccaccgggaaggaggc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000534961.1	-	4	776	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q|RNF170_ENST00000527424.1_Silent_p.T100T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	100					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483																																						ENST00000319073.4																			0				lung(3)	3						c.(85-87)cCa>cAa		ring finger protein 170							158	129	139					8																	42725169		2203	4300	6503	SO:0001819	synonymous_variant	81790					integral to membrane	zinc ion binding	g.chr8:42725169G>T	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.300C>A	8.37:g.42725169G>T						RNF170_ENST00000534961.1_Silent_p.T100T|RNF170_ENST00000527424.1_Silent_p.T100T|RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T	p.P29Q			Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		4	546	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	0					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.86C>A	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725791	0.15439	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-11.3	0.00108	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.22591	N	0.998954	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.32370	T	0.25	-4.8576	11.8869	0.52608	0.0:0.1664:0.5815:0.2521	.	29	Q96K19-4	.	Q	29	ENSP00000325969:P29Q	ENSP00000325969:P29Q	P	-	2	0	RNF170	42844326	0.236000	0.23804	0.671000	0.29857	0.242000	0.25591	-0.794000	0.04584	-1.920000	0.01069	-1.085000	0.02201	CCA		0.483	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		28	136	1	0	6.38683e-12	1	6.83756e-12	28	136					T	42725169	G	T	42725169	2	4	79	1	0	0	0	0	0	0	0	1	13512	1335	47	3		3	RNF170	8	42725169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491824	42725169	103638853	9376	19693											
FNTA	2339	broad.mit.edu	37	chr8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgatgaaagaagtgaacGagcttttaagctaacccggg	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	115					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383																																						ENST00000302279.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(343-345)cGa>cAa		farnesyltransferase, CAAX box, alpha							194	182	186					8																	42919301		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42919301G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.344G>A	8.37:g.42919301G>A	ENSP00000303423:p.Arg115Gln					FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000529687.1_5'UTR	p.R115Q	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		3	538	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	115					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.344G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519814	0.96416	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88255	0.2919	9	0.87932	D	0	-14.361	15.8992	0.79359	0.0:0.0:1.0:0.0	.	24;115	A8MVX8;P49354	.;FNTA_HUMAN	Q	72;115;97;53	.	ENSP00000303423:R115Q	R	+	2	0	FNTA;RP11-598P20.5	43038458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	CGA		0.383	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		109	550	0	0	0	1	0	109	550					A	42919301	G	A	42919301	3	1	79	1	0	0	0	0	1	0	0	0	6002	1058	37	1	354	1	FNTA	8	42919301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194132	42919301	103444721	9377	19694											
FNTA	2339	broad.mit.edu	37	chr8	42932451	42932451	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctggaaccaaagatacttCgttatttctaacaccactgg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000302279.3	+	6	920	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000342116.4_Silent_p.F175F|RP11-598P20.5_ENST00000534420.1_Silent_p.F199F	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	242					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393																																						ENST00000534420.1																			0											c.(595-597)ttC>ttT									122	112	115					8																	42932451		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr8:42932451C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.726C>T	8.37:g.42932451C>T						FNTA_ENST00000342116.4_Silent_p.F175F|FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000302279.3_Silent_p.F242F	p.199_199insF							6	597	+								A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.597C>T	CCDS6140.1																																																																																				0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		75	319	0	0	0	1	0	75	319					T	42932451	C	T	42932451	2	4	79	1	0	0	0	0	0	0	0	1	6002	883	31	1		1	FNTA	8	42932451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13150	42932451	103431571	9378	19695											
FNTA	2339	broad.mit.edu	37	chr8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataagaaaggaatattggaGatacattggaagatcccttc	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000302279.3	+	9	1264	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FNTA_ENST00000529687.1_Missense_Mutation_p.R206K|FNTA_ENST00000342116.4_Missense_Mutation_p.R290K	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	357					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(616-618)aGa>aAa		farnesyltransferase, CAAX box, alpha							84	73	77					8																	42940355		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940355G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1070G>A	8.37:g.42940355G>A	ENSP00000303423:p.Arg357Lys					FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000302279.3_Missense_Mutation_p.R357K	p.R206K			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		9	1505	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	357					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.617G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647865	0.29336	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	Protein prenyltransferase (1);	0.232665	0.46442	D	0.000291	T	0.50633	0.1627	L	0.29908	0.895	0.40310	D	0.978701	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.004	T	0.45041	-0.9288	9	0.15499	T	0.54	-12.7797	17.3299	0.87259	0.0:0.0:1.0:0.0	.	290;266;357	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	K	357;290	.	ENSP00000303423:R357K	R	+	2	0	FNTA	43059512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.917000	0.48821	2.703000	0.92315	0.650000	0.86243	AGA		0.318	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		39	198	0	0	0	1	0	39	198					A	42940355	G	A	42940355	3	1	79	1	0	0	0	0	1	0	0	0	6002	942	33	2	1104	2	FNTA	8	42940355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7904	42940355	103423667	9379	19696											
SGK196	84197	broad.mit.edu	37	chr8	42977294	42977294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagttgcactctcacaGctcaccagcctggagatgaa	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42977294G>T	ENST00000331373.5	+	5	582	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										CACTCTCACAGCTCACCAGCC	0.488																																						ENST00000331373.5																			0											c.(325-327)caG>caT									125	113	117					8																	42977294		2203	4300	6503	SO:0001583	missense	0					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977294G>T		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.327G>T	8.37:g.42977294G>T	ENSP00000331258:p.Gln109His						p.Q109H	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			5	582	+			109			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.327G>T	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535902	0.45176	.	.	ENSG00000185900	ENST00000518991;ENST00000331373	T;T	0.73681	-0.77;1.96	5.77	3.91	0.45181	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.573927	0.19123	N	0.122135	T	0.71367	0.3331	L	0.56340	1.77	0.21184	N	0.999764	P	0.45594	0.862	P	0.51355	0.667	T	0.58289	-0.7662	10	0.13470	T	0.59	-13.1479	4.891	0.13726	0.079:0.151:0.6132:0.1568	.	109	Q9H5K3	SG196_HUMAN	H	109	ENSP00000429090:Q109H;ENSP00000331258:Q109H	ENSP00000331258:Q109H	Q	+	3	2	AC113191.1	43096451	0.451000	0.25705	0.969000	0.41365	0.765000	0.43378	0.566000	0.23593	0.834000	0.34852	-0.182000	0.12963	CAG		0.488	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		84	400	1	0	3.56499e-28	1	4.14352e-28	84	400					T	42977294	G	T	42977294	3	4	79	1	0	0	0	0	1	0	0	0	14258	962	34	3	333	3	SGK196	8	42977294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36939	42977294	103386728	9380	19697											
HGSNAT	138050	broad.mit.edu	37	chr8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggattgctcttatactcatGgtctttgtcaattatggagg	10	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000458501.2	+	8	846	c.846G>A	c.(844-846)atG>atA	p.M282I	HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	282					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(844-846)atG>atA		heparan-alpha-glucosaminide N-acetyltransferase							203	196	198					8																	43027471		1870	4091	5961	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43027471G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.846G>A	8.37:g.43027471G>A	ENSP00000389524:p.Met282Ile					HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I	p.M282I			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		8	846	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	282					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.846G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275747	0.80580	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.95103	-3.61;-3.61;-3.03	5.37	5.37	0.77165	.	0.043313	0.85682	D	0.000000	D	0.97216	0.9090	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97781	1.0232	10	0.87932	D	0	-37.2059	16.7067	0.85374	0.0:0.0:1.0:0.0	.	282	Q68CP4	HGNAT_HUMAN	I	282;254;1	ENSP00000389524:M282I;ENSP00000368965:M254I;ENSP00000430151:M1I	ENSP00000368965:M254I	M	+	3	0	HGSNAT	43146628	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.894000	0.87336	2.533000	0.85409	0.644000	0.83932	ATG		0.368	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		71	392	0	0	0	1	0	71	392					A	43027471	G	A	43027471	3	1	79	1	0	0	0	0	1	0	0	0	7118	1348	47	2	792	2	HGSNAT	8	43027471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50177	43027471	103336551	9381	19698											
HGSNAT	138050	broad.mit.edu	37	chr8	43033296	43033296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcaaaattcagattgCtggggaagattgcatggagg	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000458501.2	+	10	1015	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.L311L|HGSNAT_ENST00000297798.7_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	339					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1015-1017)Ctg>Ttg		heparan-alpha-glucosaminide N-acetyltransferase							204	196	199					8																	43033296		1830	4079	5909	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43033296C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1015C>T	8.37:g.43033296C>T						HGSNAT_ENST00000379644.4_Silent_p.L311L	p.L339L			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		10	1015	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	339					B4E2V0	Silent	SNP	ENST00000458501.2	37	c.1015C>T		.	.	.	.	.	.	.	.	.	.	C	8.619	0.890869	0.17613	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.68	1.82	0.25136	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-2.0712	5.6173	0.17438	0.2789:0.57:0.0:0.1511	.	.	.	.	V	12	.	.	A	+	2	0	HGSNAT	43152453	1.000000	0.71417	0.531000	0.27976	0.919000	0.55068	1.133000	0.31430	0.057000	0.16193	-0.142000	0.14014	GCT		0.363	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		127	598	0	0	0	1	0	127	598					T	43033296	C	T	43033296	2	4	79	1	0	0	0	0	0	0	0	1	7118	796	28	2		2	HGSNAT	8	43033296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5825	43033296	103330726	9382	19699											
PRKDC	5591	broad.mit.edu	37	chr8	48691355	48691355	+	Missense_Mutation	SNP	G	G	A													tgactgtttcagtacgattaGcgcccctatgatttaataat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355G>A	ENST00000314191.2	-	83	11638	c.11582C>T	c.(11581-11583)gCt>gTt	p.A3861V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	AGTACGATTAGCGCCCCTATG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(11581-11583)gCt>gTt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							36	33	34					8																	48691355		1820	4071	5891	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.chr8:48691355G>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.11582C>T	8.37:g.48691355G>A	ENSP00000313420:p.Ala3861Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V|PRKDC_ENST00000523565.1_5'UTR	p.A3861V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			83	11638	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3862			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11582C>T		.	.	.	.	.	.	.	.	.	.	G	18.83	3.706628	0.68615	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.23;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	T	0.77438	0.4130	L	0.56396	1.775	0.80722	D	1	P;P	0.42010	0.639;0.768	B;P	0.46172	0.407;0.506	T	0.79137	-0.1927	10	0.54805	T	0.06	.	17.203	0.86911	0.0:0.0:1.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	V	3861;3830	ENSP00000313420:A3861V;ENSP00000345182:A3830V	ENSP00000313420:A3861V	A	-	2	0	PRKDC	48853908	1.000000	0.71417	0.814000	0.32528	0.199000	0.23934	7.936000	0.87665	2.487000	0.83934	0.561000	0.74099	GCT		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	83	0	0	0	1	0	10	83					A	48691355	G	A	48691355	3	1	79	1	0	0	0	0	1	0	0	0	12568	971	34	2	821	2	PRKDC	8	48691355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5658059	48691355	97672667	9383	19700	122	2									
PRKDC	5591	broad.mit.edu	37	chr8	48691356	48691356	+	Missense_Mutation	SNP	C	C	T													gactgtttcagtacgattagCgcccctatgatttaataata					rs568709506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691356C>T	ENST00000314191.2	-	83	11637	c.11581G>A	c.(11581-11583)Gct>Act	p.A3861T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	GTACGATTAGCGCCCCTATGA	0.323								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(11581-11583)Gct>Act	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							36	33	34					8																	48691356		1817	4071	5888	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.chr8:48691356C>T		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.11581G>A	8.37:g.48691356C>T	ENSP00000313420:p.Ala3861Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T|PRKDC_ENST00000523565.1_5'UTR	p.A3861T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			83	11637	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3862			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11581G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.096850	0.76870	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.19;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	D	0.84795	0.5551	M	0.80746	2.51	0.80722	D	1	D;D	0.65815	0.979;0.995	P;P	0.58391	0.709;0.838	D	0.86556	0.1838	10	0.59425	D	0.04	.	17.203	0.86911	0.0:1.0:0.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	T	3861;3830	ENSP00000313420:A3861T;ENSP00000345182:A3830T	ENSP00000313420:A3861T	A	-	1	0	PRKDC	48853909	1.000000	0.71417	0.797000	0.32132	0.207000	0.24258	6.278000	0.72614	2.487000	0.83934	0.561000	0.74099	GCT		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		11	84	0	0	0	1	0	11	84					T	48691356	C	T	48691356	3	4	79	1	0	0	0	0	1	0	0	0	12568	768	27	1	822	1	PRKDC	8	48691356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	48691356	97672666	9384	19701	122	2									
PRKDC	5591	broad.mit.edu	37	chr8	48701608	48701608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacatcattgctccaAtcctgtcaggggaaaaaaaa	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000314191.2	-	77	10814	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.D3586D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3587					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)			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)	CATTGCTCCAATCCTGTCAGG	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(10756-10758)gaT>gaC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							67	61	63					8																	48701608		1801	4067	5868	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48701608A>G		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.10758T>C	8.37:g.48701608A>G						PRKDC_ENST00000338368.3_Silent_p.D3586D|PRKDC_ENST00000523565.1_5'UTR	p.D3586D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			77	10814	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3587					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10758T>C																																																																																					0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		42	185	0	0	0	1	0	42	185					G	48701608	A	G	48701608	2	3	79	1	0	0	0	0	0	0	0	1	12568	98	4	4		4	PRKDC	8	48701608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10252	48701608	97662414	9385	19702											
PRKDC	5591	broad.mit.edu	37	chr8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgccggtagcttctgTacagaacgacctgggcatcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000314191.2	-	62	8368	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2772	KIP-binding.				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)			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)	GTAGCTTCTGTACAGAACGAC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(8311-8313)tAc>tGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							96	102	100					8																	48743248		2015	4185	6200	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.chr8:48743248T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8312A>G	8.37:g.48743248T>C	ENSP00000313420:p.Tyr2771Cys					PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000523565.1_5'UTR	p.Y2771C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			62	8368	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2772			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8312A>G		.	.	.	.	.	.	.	.	.	.	T	23.3	4.399114	0.83120	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.96;3.89	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.85	T	0.01405	-1.1363	10	0.87932	D	0	.	15.7828	0.78275	0.0:0.0:0.0:1.0	.	2771;2772	E7EUY0;P78527	.;PRKDC_HUMAN	C	2771	ENSP00000313420:Y2771C;ENSP00000345182:Y2771C	ENSP00000313420:Y2771C	Y	-	2	0	PRKDC	48905801	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.681000	0.84073	2.141000	0.66446	0.533000	0.62120	TAC		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		48	320	0	0	0	1	0	48	320					C	48743248	T	C	48743248	3	2	79	1	0	0	0	0	1	0	0	0	12568	1638	57	4	4175	4	PRKDC	8	48743248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41640	48743248	97620774	9386	19703											
PRKDC	5591	broad.mit.edu	37	chr8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaacttctgtcatcaAttccaacaacatagggcttt	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000314191.2	-	41	5334	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1761					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)			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)	TCTGTCATCAATTCCAACAAC	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(5278-5280)Ttg>Gtg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							113	108	110					8																	48790367		1859	4097	5956	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.chr8:48790367A>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5278T>G	8.37:g.48790367A>C	ENSP00000313420:p.Leu1760Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V|PRKDC_ENST00000523565.1_5'UTR	p.L1760V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			41	5334	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1761					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5278T>G		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958535	0.34565	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	3.28	0.37604	Armadillo-like helical (1);Armadillo-type fold (1);	0.082334	0.50627	D	0.000118	T	0.51312	0.1667	L	0.60455	1.87	0.48288	D	0.999628	P;B	0.35411	0.5;0.36	B;B	0.30029	0.11;0.076	T	0.40136	-0.9579	10	0.30078	T	0.28	.	8.6942	0.34284	0.7639:0.0:0.2361:0.0	.	1760;1761	E7EUY0;P78527	.;PRKDC_HUMAN	V	1760	ENSP00000313420:L1760V;ENSP00000345182:L1760V	ENSP00000313420:L1760V	L	-	1	2	PRKDC	48952920	0.086000	0.21541	0.867000	0.34043	0.885000	0.51271	0.440000	0.21592	0.435000	0.26365	0.477000	0.44152	TTG		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		73	303	0	0	0	1	0	73	303					C	48790367	A	C	48790367	3	2	79	1	0	0	0	0	1	0	0	0	12568	98	4	4	7293	4	PRKDC	8	48790367	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47119	48790367	97573655	9387	19704											
PXDNL	137902	broad.mit.edu	37	chr8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccttatcaacaggatagCtgtattgagctgagcgtttc	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1324					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)			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)				AACAGGATAGCTGTATTGAGC	0.388																																						ENST00000356297.4																			0				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						c.(3970-3972)aGc>aTc		peroxidasin homolog (Drosophila)-like							147	138	141					8																	52258438		1924	4125	6049	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258438C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3971G>T	8.37:g.52258438C>A	ENSP00000348645:p.Ser1324Ile					PXDNL_ENST00000543296.1_Intron	p.S1324I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			20	4071	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1324					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3971G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765638|1.765638	0.31228|0.31228	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.67698	.|-0.28	4.53|4.53	-0.773|-0.773	0.10995|0.10995	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.48016	.|0.904	.|P	.|0.46543	.|0.52	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.51188	.|T	.|0.08	.|.	6.3897|6.3897	0.21579|0.21579	0.0:0.5412:0.1284:0.3304|0.0:0.5412:0.1284:0.3304	.|.	.|1324	.|A1KZ92	.|PXDNL_HUMAN	S|I	398|1324	.|ENSP00000348645:S1324I	.|ENSP00000348645:S1324I	A|S	-|-	1|2	0|0	PXDNL|PXDNL	52420991|52420991	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.259000|-0.259000	0.08721|0.08721	-0.976000|-0.976000	0.03542|0.03542	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		36	198	1	0	2.59497e-14	1	2.81812e-14	36	198					A	52258438	C	A	52258438	3	1	79	1	0	0	0	0	1	0	0	0	12898	797	28	3	436	3	PXDNL	8	52258438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3468071	52258438	94105584	9388	19705											
PXDNL	137902	broad.mit.edu	37	chr8	52321942	52321942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaggcgcgcgaaggCggtcagcgccgcgccccacg	16	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	ENST00000356297.4	-	17	2342	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	748					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)			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)				CGCGCGAAGGCGGTCAGCGCC	0.736																																						ENST00000356297.4																			0				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						c.(2242-2244)Gcc>Acc		peroxidasin homolog (Drosophila)-like							11	12	12					8																	52321942		1911	4099	6010	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321942C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2242G>A	8.37:g.52321942C>T	ENSP00000348645:p.Ala748Thr					PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	p.A748T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2342	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	748					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2242G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745680	0.69418	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69685	-0.42;-0.42	3.71	3.71	0.42584	.	.	.	.	.	T	0.78323	0.4265	M	0.68952	2.095	0.34599	D	0.716333	D	0.76494	0.999	D	0.68765	0.96	D	0.85349	0.1100	9	0.72032	D	0.01	.	13.2908	0.60270	0.0:1.0:0.0:0.0	.	748	A1KZ92	PXDNL_HUMAN	T	748	ENSP00000348645:A748T;ENSP00000444865:A748T	ENSP00000348645:A748T	A	-	1	0	PXDNL	52484495	0.992000	0.36948	0.070000	0.20053	0.020000	0.10135	2.996000	0.49449	1.779000	0.52309	0.555000	0.69702	GCC		0.736	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		27	107	0	0	0	1	0	27	107					T	52321942	C	T	52321942	3	4	79	1	0	0	0	0	1	0	0	0	12898	768	27	1	2177	1	PXDNL	8	52321942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63504	52321942	94042080	9389	19706											
PXDNL	137902	broad.mit.edu	37	chr8	52323862	52323862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacacgttcccgtatcagCtgcagcgtgtgctcaaaaat	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					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)			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)				CCCGTATCAGCTGCAGCGTGT	0.522																																						ENST00000356297.4																			0				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						c.(2008-2010)caG>caA		peroxidasin homolog (Drosophila)-like							59	59	59					8																	52323862		1999	4181	6180	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323862C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2010G>A	8.37:g.52323862C>T						PXDNL_ENST00000543296.1_Silent_p.Q670Q	p.Q670Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			16	2110	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	670					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2010G>A	CCDS47855.1																																																																																				0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	50	0	0	0	1	0	10	50					T	52323862	C	T	52323862	2	4	79	1	0	0	0	0	0	0	0	1	12898	796	28	2		2	PXDNL	8	52323862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1920	52323862	94040160	9390	19707											
PXDNL	137902	broad.mit.edu	37	chr8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcggctcaaaagtaattCgggggctctctgcaacaaaa	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				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)			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)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4																			0				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						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96	90	92					8																	52384855		1837	4075	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384855C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	235			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.704G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		55	326	0	0	0	1	0	55	326					T	52384855	C	T	52384855	3	4	79	1	0	0	0	0	1	0	0	0	12898	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60993	52384855	93979167	9391	19708											
ST18	9705	broad.mit.edu	37	chr8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgaaaacttgggcatcaaAactggcataatcaaatggta	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	507					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)			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)				TGGGCATCAAAACTGGCATAA	0.423																																						ENST00000276480.7																			0				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						c.(1519-1521)Ttt>Gtt		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							210	202	205					8																	53074010		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53074010A>C	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.1519T>G	8.37:g.53074010A>C	ENSP00000276480:p.Phe507Val						p.F507V	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2202	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	507					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1519T>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047112	0.93740	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.56103	0.48;0.48	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.047656	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D;D	0.56968	0.978;0.957	P;P	0.60473	0.875;0.855	T	0.75545	-0.3280	10	0.59425	D	0.04	-7.8199	15.8762	0.79166	1.0:0.0:0.0:0.0	.	507;507	E5RHS3;O60284	.;ST18_HUMAN	V	507	ENSP00000276480:F507V;ENSP00000428521:F507V	ENSP00000276480:F507V	F	-	1	0	ST18	53236563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.199000	0.70637	0.456000	0.33151	TTT		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			116	530	0	0	0	1	0	116	530					C	53074010	A	C	53074010	3	2	79	1	0	0	0	0	1	0	0	0	15264	14	1	4	1676	4	ST18	8	53074010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	689155	53074010	93290012	9392	19709											
RB1CC1	9821	broad.mit.edu	37	chr8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctaagcagtacatctgaGgaactgtactaagagcttca	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	493					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACATCTGAGGAACTGTACT	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1477-1479)cCt>cAt		RB1-inducible coiled-coil 1							109	104	105					8																	53573722		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573722G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1478C>A	8.37:g.53573722G>T	ENSP00000025008:p.Pro493His					RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	p.P493H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			10	2001	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	493					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1478C>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547625	0.65311	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76881	-0.2795	10	0.87932	D	0	-16.9857	19.4663	0.94943	0.0:0.0:1.0:0.0	.	493;493	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	493	ENSP00000025008:P493H;ENSP00000396067:P493H;ENSP00000445960:P493H	ENSP00000025008:P493H	P	-	2	0	RB1CC1	53736275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.781000	0.99029	2.675000	0.91044	0.650000	0.86243	CCT		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		106	356	1	0	4.00015e-43	1	4.88018e-43	106	356					T	53573722	G	T	53573722	3	4	79	1	0	0	0	0	1	0	0	0	13149	1000	35	3	3366	3	RB1CC1	8	53573722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499712	53573722	92790300	9393	19710											
RB1CC1	9821	broad.mit.edu	37	chr8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcttaatatctaacaGttttctatgattttgcaaca	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	430					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATCTAACAGTTTTCTATGA	0.343																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1288-1290)Ctg>Atg		RB1-inducible coiled-coil 1							169	166	167					8																	53574165		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53574165G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1288C>A	8.37:g.53574165G>T	ENSP00000025008:p.Leu430Met					RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	p.L430M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			9	1811	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	430					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1288C>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092588	0.76756	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27104	1.7;1.69;1.69	5.26	4.39	0.52855	.	0.000000	0.64402	D	0.000005	T	0.48822	0.1521	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.52290	-0.8595	10	0.72032	D	0.01	-8.4025	14.0097	0.64488	0.0732:0.0:0.9268:0.0	.	430;430	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	430	ENSP00000025008:L430M;ENSP00000396067:L430M;ENSP00000445960:L430M	ENSP00000025008:L430M	L	-	1	2	RB1CC1	53736718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	1.351000	0.45789	0.650000	0.86243	CTG		0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		96	400	1	0	1.43847e-43	1	1.75646e-43	96	400					T	53574165	G	T	53574165	3	4	79	1	0	0	0	0	1	0	0	0	13149	1020	36	3	3560	3	RB1CC1	8	53574165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443	53574165	92789857	9394	19711											
RB1CC1	9821	broad.mit.edu	37	chr8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaggaatagcaggtggacGatcacataagatcatttctt	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	83					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGGTGGACGATCACATAAG	0.289																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(247-249)Cgt>Tgt		RB1-inducible coiled-coil 1							45	46	46					8																	53596231		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53596231G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.247C>T	8.37:g.53596231G>A	ENSP00000025008:p.Arg83Cys					RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	p.R83C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			5	770	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	83					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.247C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065391	0.93898	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15603	2.41;2.41;2.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.30001	-0.9993	10	0.72032	D	0.01	-5.836	19.3152	0.94208	0.0:0.0:1.0:0.0	.	83;83	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	83;83;83;31	ENSP00000025008:R83C;ENSP00000396067:R83C;ENSP00000445960:R83C	ENSP00000025008:R83C	R	-	1	0	RB1CC1	53758784	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	CGT		0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		36	191	0	0	0	1	0	36	191					A	53596231	G	A	53596231	3	1	79	1	0	0	0	0	1	0	0	0	13149	1058	37	1	4617	1	RB1CC1	8	53596231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22066	53596231	92767791	9395	19712											
NPBWR1	2831	broad.mit.edu	37	chr8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacgtgttgctgcgggCgccccgcatgaagaccgtca	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(193-195)gCg>gTg		neuropeptides B/W receptor 1							50	39	43					8																	53852661		2203	4300	6503	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852661C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	8.37:g.53852661C>T	ENSP00000330284:p.Ala65Val						p.A65V	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1671	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	65					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.194C>T	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG		0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		30	167	0	0	0	1	0	30	167					T	53852661	C	T	53852661	3	4	79	1	0	0	0	0	1	0	0	0	10610	768	27	1	196	1	NPBWR1	8	53852661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256430	53852661	92511361	9396	19713											
MRPL15	29088	broad.mit.edu	37	chr8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaagtacagttggcttcaGaactagctattgctgccatt	9	8	1	2	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	161					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(481-483)Gaa>Aaa		mitochondrial ribosomal protein L15							114	103	106					8																	55055274		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55055274G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.481G>A	8.37:g.55055274G>A	ENSP00000260102:p.Glu161Lys						p.E161K	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		4	555	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	161					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.481G>A	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119001	0.94385	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	Ribosomal protein L18e/L15P (2);	0.043652	0.85682	D	0.000000	T	0.40546	0.1121	N	0.03029	-0.43	0.80722	D	1	P	0.41159	0.74	P	0.50440	0.641	T	0.45527	-0.9255	9	0.30854	T	0.27	-28.0007	14.957	0.71124	0.0:0.1423:0.8577:0.0	.	161	Q9P015	RM15_HUMAN	K	161	.	ENSP00000260102:E161K	E	+	1	0	MRPL15	55217827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.742000	0.85008	2.652000	0.90054	0.655000	0.94253	GAA		0.393	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		63	272	0	0	0	1	0	63	272					A	55055274	G	A	55055274	3	1	79	1	0	0	0	0	1	0	0	0	9821	943	33	2	495	2	MRPL15	8	55055274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202613	55055274	91308748	9397	19714											
MRPL15	29088	broad.mit.edu	37	chr8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtggtgttgttactacaGccttctatgatccaagaagt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	177					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(529-531)Gcc>Tcc		mitochondrial ribosomal protein L15							141	129	133					8																	55055322		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55055322G>T	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.529G>T	8.37:g.55055322G>T	ENSP00000260102:p.Ala177Ser						p.A177S	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		4	603	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	177					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.529G>T	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353741	0.41700	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	4.39	0.52855	Ribosomal protein L18e/L15P (1);	0.186728	0.56097	D	0.000030	T	0.45677	0.1354	N	0.20807	0.61	0.38242	D	0.941351	B	0.27450	0.179	B	0.34931	0.192	T	0.45600	-0.9250	9	0.28530	T	0.3	-27.9279	14.5839	0.68310	0.0:0.0:0.7817:0.2183	.	177	Q9P015	RM15_HUMAN	S	177	.	ENSP00000260102:A177S	A	+	1	0	MRPL15	55217875	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.928000	0.48908	2.652000	0.90054	0.655000	0.94253	GCC		0.383	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		75	337	1	0	1.62783e-20	1	1.82478e-20	75	337					T	55055322	G	T	55055322	3	4	79	1	0	0	0	0	1	0	0	0	9821	971	34	3	543	3	MRPL15	8	55055322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	55055322	91308700	9398	19715											
MRPL15	29088	broad.mit.edu	37	chr8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttatatcttacctgataTcactaaagatgaactcttca	5	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	247					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTACCTGATATCACTAAAGAT	0.453																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(739-741)aTc>aCc		mitochondrial ribosomal protein L15							80	77	78					8																	55060128		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55060128T>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.740T>C	8.37:g.55060128T>C	ENSP00000260102:p.Ile247Thr						p.I247T	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	814	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	247					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.740T>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216259	0.58452	.	.	ENSG00000137547	ENST00000260102	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.042804	0.85682	D	0.000000	T	0.64681	0.2620	M	0.76002	2.32	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.65393	-0.6179	10	0.72032	D	0.01	-17.4903	15.3195	0.74109	0.0:0.0:0.0:1.0	.	247	Q9P015	RM15_HUMAN	T	247	ENSP00000260102:I247T	ENSP00000260102:I247T	I	+	2	0	MRPL15	55222681	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.872000	0.69636	2.011000	0.59026	0.528000	0.53228	ATC		0.453	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		15	353	0	0	0	1	0	15	353					C	55060128	T	C	55060128	3	2	79	1	0	0	0	0	1	0	0	0	9821	1435	50	4	758	4	MRPL15	8	55060128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4806	55060128	91303894	9399	19716											
RP1	6101	broad.mit.edu	37	chr8	55533931	55533931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgggccattagcgcGcactcaccgccccaccccgt	10	20	1	0	rs200402161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		9988	0.0		0.001	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(403-405)gcG>gcA		retinitis pigmentosa 1 (autosomal dominant)							27	32	30					8																	55533931		2186	4292	6478	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533931G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.405G>A	8.37:g.55533931G>A							p.A135A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	553	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	135						Silent	SNP	ENST00000220676.1	37	c.405G>A	CCDS6160.1																																																																																				0.692	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		111	453	0	0	0	1	0	111	453					A	55533931	G	A	55533931	2	1	79	1	0	0	0	0	0	0	0	1	13582	1074	38	1		1	RP1	8	55533931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473803	55533931	90830091	9400	19717											
RP1	6101	broad.mit.edu	37	chr8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagttgagatgaaagttCgattcagaataaaagaggaa	11	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1012-1014)Cga>Tga		retinitis pigmentosa 1 (autosomal dominant)							68	67	67					8																	55537454		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537454C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1012C>T	8.37:g.55537454C>T	ENSP00000220676:p.Arg338*						p.R338*	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1160	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	338						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.1012C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		40	179	0	0	0	1	0	40	179					T	55537454	C	T	55537454	4	4	79	1	0	0	0	0	0	1	0	0	13582	876	31	1	1022	1	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3523	55537454	90826568	9401	19718											
RP1	6101	broad.mit.edu	37	chr8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtaaattgtagcaataAtagtttttcagggaatgatc	10	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	950					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAGCAATAATAGTTTTTCA	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2848-2850)aAt>aCt		retinitis pigmentosa 1 (autosomal dominant)							43	46	45					8																	55539291		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539291A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2849A>C	8.37:g.55539291A>C	ENSP00000220676:p.Asn950Thr						p.N950T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2997	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	950						Missense_Mutation	SNP	ENST00000220676.1	37	c.2849A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	7.822	0.718019	0.15372	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	-7.84	0.01196	.	1.146690	0.06426	N	0.723180	T	0.34221	0.0890	L	0.43152	1.355	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.47983	-0.9074	10	0.72032	D	0.01	.	9.5623	0.39378	0.1535:0.1029:0.642:0.1016	.	950	P56715	RP1_HUMAN	T	950	ENSP00000220676:N950T	ENSP00000220676:N950T	N	+	2	0	RP1	55701844	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.341000	0.02647	-0.777000	0.04572	0.533000	0.62120	AAT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		44	260	0	0	0	1	0	44	260					C	55539291	A	C	55539291	3	2	79	1	0	0	0	0	1	0	0	0	13582	101	4	4	2859	4	RP1	8	55539291	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1837	55539291	90824731	9402	19719											
RP1	6101	broad.mit.edu	37	chr8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacatcaagtgaaagaaAcatttcagaattggaatctt	7	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1461					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGAAAGAAACATTTCAGAA	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4381-4383)aAc>aCc		retinitis pigmentosa 1 (autosomal dominant)							50	54	53					8																	55540824		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540824A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4382A>C	8.37:g.55540824A>C	ENSP00000220676:p.Asn1461Thr						p.N1461T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4530	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1461						Missense_Mutation	SNP	ENST00000220676.1	37	c.4382A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702442	0.30232	.	.	ENSG00000104237	ENST00000220676	T	0.65364	-0.15	5.48	0.271	0.15640	.	0.461357	0.19939	N	0.102690	T	0.53562	0.1804	M	0.68952	2.095	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.50372	-0.8836	10	0.87932	D	0	-2.9732	5.6249	0.17477	0.5776:0.1383:0.2841:0.0	.	1461	P56715	RP1_HUMAN	T	1461	ENSP00000220676:N1461T	ENSP00000220676:N1461T	N	+	2	0	RP1	55703377	0.000000	0.05858	0.021000	0.16686	0.634000	0.38068	-0.722000	0.04958	-0.176000	0.10707	0.533000	0.62120	AAC		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		73	263	0	0	0	1	0	73	263					C	55540824	A	C	55540824	3	2	79	1	0	0	0	0	1	0	0	0	13582	43	2	4	4392	4	RP1	8	55540824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1533	55540824	90823198	9403	19720											
CHCHD7	79145	broad.mit.edu	37	chr8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatgcctacggcagcagaaaGagatgaaatcttgagagcag	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000355315.3	+	4	317	c.218G>A	c.(217-219)aGa>aAa	p.R73K	CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523975.1_Missense_Mutation_p.R85K|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	73						mitochondrion (GO:0005739)			CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343			T	PLAG1	salivary adenoma																																	ENST00000523975.1				Dom	yes		8	8q11.2	79145	T	coiled-coil-helix-coiled-coil-helix domain containing 7			E	PLAG1		salivary adenoma	CHCHD7/PLAG1(12)	0				endometrium(1)	1						c.(253-255)aGa>aAa		coiled-coil-helix-coiled-coil-helix domain containing 7							109	116	114					8																	57129954		2203	4300	6503	SO:0001583	missense	79145							g.chr8:57129954G>A	AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791		"Coiled-coil-helix-coiled-coil-helix domain containing"	28314	protein-coding gene	gene with protein product	"COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)"	611238				20922212, 22842048	Standard	XR_428340		Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000355315.3:c.218G>A	8.37:g.57129954G>A	ENSP00000347469:p.Arg73Lys					CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000355315.3_Missense_Mutation_p.R73K|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000521831.1_3'UTR	p.R85K			Q9BUK0	CHCH7_HUMAN	Epithelial(17;0.00159)|all cancers(17;0.0112)		5	402	+		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	73					A8K223|E9PBH3|J3KNE9|Q7Z588	Missense_Mutation	SNP	ENST00000355315.3	37	c.254G>A	CCDS34896.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549267	0.96488	.	.	ENSG00000170791	ENST00000355315;ENST00000303759;ENST00000523975;ENST00000396723	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	.	.	.	0.53688	D	0.999979	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.48055	-0.9068	9	0.66056	D	0.02	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	73;85	Q9BUK0;Q9BUK0-2	CHCH7_HUMAN;.	K	73;98;85;82	ENSP00000347469:R73K;ENSP00000306425:R98K;ENSP00000428917:R85K;ENSP00000379949:R82K	ENSP00000306425:R98K	R	+	2	0	CHCHD7	57292508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.393000	0.79851	2.857000	0.98124	0.650000	0.86243	AGA		0.343	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	NM_024300		56	252	0	0	0	1	0	56	252					A	57129954	G	A	57129954	3	1	79	1	0	0	0	0	1	0	0	0	3330	942	33	2	351	2	CHCHD7	8	57129954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1589130	57129954	89234068	9404	19721											
SDR16C5	195814	broad.mit.edu	37	chr8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatgtttttcttacctgCcagcccatttactccactta	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000303749.3	-	4	1199	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	188					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTACCTGCCAGCCCATTT	0.358																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(430-432)Gca>Aca		short chain dehydrogenase/reductase family 16C, member 5							103	96	99					8																	57221490		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57221490C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.562G>A	8.37:g.57221490C>T	ENSP00000307607:p.Ala188Thr					SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000303749.3_Missense_Mutation_p.A188T	p.A144T			Q8N3Y7	RDHE2_HUMAN			3	560	-			188					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.430G>A	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015572	0.19355	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.90444	-2.67;-2.45;-2.45	5.79	3.76	0.43208	NAD(P)-binding domain (1);	0.168725	0.49916	D	0.000130	D	0.82582	0.5068	N	0.13168	0.305	0.53688	D	0.999973	B;B;B	0.27068	0.049;0.167;0.133	B;B;B	0.30943	0.074;0.053;0.122	T	0.77156	-0.2691	10	0.14252	T	0.57	.	16.4053	0.83662	0.3315:0.6685:0.0:0.0	.	144;188;188	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	144;188;188;188	ENSP00000379947:A144T;ENSP00000307607:A188T;ENSP00000431010:A188T	ENSP00000307607:A188T	A	-	1	0	SDR16C5	57384044	0.988000	0.35896	0.923000	0.36655	0.134000	0.20937	2.656000	0.46716	1.387000	0.46486	0.655000	0.94253	GCA		0.358	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		25	176	0	0	0	1	0	25	176					T	57221490	C	T	57221490	3	4	79	1	0	0	0	0	1	0	0	0	14021	739	26	2	383	2	SDR16C5	8	57221490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91536	57221490	89142532	9405	19722											
SDR16C5	195814	broad.mit.edu	37	chr8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcggctactctatAcactccttccttttggctgc	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000303749.3	-	2	953	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	106					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCTACTCTATACACTCCTTCC	0.453																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(316-318)Tat>Gat		short chain dehydrogenase/reductase family 16C, member 5							107	113	111					8																	57228591		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57228591A>C		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.316T>G	8.37:g.57228591A>C	ENSP00000307607:p.Tyr106Asp					SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000303749.3_Missense_Mutation_p.Y106D	p.Y106D			Q8N3Y7	RDHE2_HUMAN			2	446	-			106					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.316T>G	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174254	0.57692	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.86627	-2.15;-2.15;-2.15	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	N	0.04116	-0.275	0.80722	D	1	P;D;D	0.89917	0.86;1.0;1.0	P;D;D	0.97110	0.535;0.995;1.0	D	0.89344	0.3656	10	0.62326	D	0.03	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	106;106;106	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	D	106	ENSP00000379947:Y106D;ENSP00000307607:Y106D;ENSP00000431010:Y106D	ENSP00000307607:Y106D	Y	-	1	0	SDR16C5	57391145	1.000000	0.71417	0.042000	0.18584	0.429000	0.31625	8.928000	0.92853	1.950000	0.56595	0.460000	0.39030	TAT		0.453	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		121	498	0	0	0	1	0	121	498					C	57228591	A	C	57228591	3	2	79	1	0	0	0	0	1	0	0	0	14021	391	14	4	637	4	SDR16C5	8	57228591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7101	57228591	89135431	9406	19723											
PENK	5179	broad.mit.edu	37	chr8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgaggaagctctggTttggacagctgcaggagctc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	73					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(217-219)aaA>aaC		proenkephalin							91	96	94					8																	57354416		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354416T>G		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.219A>C	8.37:g.57354416T>G	ENSP00000324248:p.Lys73Asn					PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	p.K73N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	295	-		all_lung(136;0.229)	73					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.219A>C	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653120	0.29425	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.74737	-0.87;-0.87;0.86	5.94	-9.73	0.00512	.	0.438594	0.27627	N	0.018537	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.11179	-1.0598	10	0.46703	T	0.11	-6.257	13.5097	0.61504	0.076:0.6291:0.0:0.2949	.	73	P01210	PENK_HUMAN	N	73	ENSP00000324248:K73N;ENSP00000400894:K73N;ENSP00000428012:K73N	ENSP00000324248:K73N	K	-	3	2	PENK	57516970	0.025000	0.19082	0.000000	0.03702	0.735000	0.41995	-0.852000	0.04308	-2.039000	0.00917	0.459000	0.35465	AAA		0.468	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			120	506	0	0	0	1	0	120	506					G	57354416	T	G	57354416	3	3	79	1	0	0	0	0	1	0	0	0	11769	1722	60	4	588	4	PENK	8	57354416	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125825	57354416	89009606	9407	19724											
FAM110B	90362	broad.mit.edu	37	chr8	59059135	59059135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgtgcagagggagaacCtgaagctggagatcctgaag	17	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L116M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGGGAGAACCTGAAGCTGGA	0.662																																						ENST00000361488.3																			1	Substitution - Missense(1)	p.L116M(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(346-348)Ctg>Ttg		family with sequence similarity 110, member B							37	38	37					8																	59059135		2203	4300	6503	SO:0001819	synonymous_variant	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059135C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.346C>T	8.37:g.59059135C>T						FAM110B_ENST00000520369.1_Intron	p.L116L	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1226	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	116					Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	c.346C>T	CCDS6170.1																																																																																				0.662	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		33	174	0	0	0	1	0	33	174					T	59059135	C	T	59059135	2	4	79	1	0	0	0	0	0	0	0	1	5418	680	24	2		2	FAM110B	8	59059135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1704719	59059135	87304887	9408	19725											
UBXN2B	137886	broad.mit.edu	37	chr8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagaagcagatattcttaAcactgtgttactccagcaac	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	323	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(967-969)aAc>aGc		UBX domain protein 2B							73	63	66					8																	59360082		1861	4108	5969	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59360082A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.968A>G	8.37:g.59360082A>G	ENSP00000382507:p.Asn323Ser						p.N323S	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			8	1090	+			323			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.968A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812865	0.90707	.	.	ENSG00000215114	ENST00000399598	T	0.48522	0.81	6.08	6.08	0.98989	UBX (3);	0.000000	0.48767	U	0.000180	T	0.68458	0.3003	M	0.76574	2.34	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.70757	-0.4785	10	0.56958	D	0.05	-24.3636	15.2149	0.73258	1.0:0.0:0.0:0.0	.	323	Q14CS0	UBX2B_HUMAN	S	323	ENSP00000382507:N323S	ENSP00000382507:N323S	N	+	2	0	UBXN2B	59522636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.304000	0.89958	2.333000	0.79357	0.533000	0.62120	AAC		0.393	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		54	246	0	0	0	1	0	54	246					G	59360082	A	G	59360082	3	3	79	1	0	0	0	0	1	0	0	0	16969	43	2	4	998	4	UBXN2B	8	59360082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	300947	59360082	87003940	9409	19726											
CYP7A1	1581	broad.mit.edu	37	chr8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatagaaggtagtctttgTcttcccgttttcatcaagat	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGTCTTTGTCTTCCCGTTT	0.343									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1255-1257)Aca>Gca		cytochrome P450, family 7, subfamily A, polypeptide 1							102	112	109					8																	59404294		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404294T>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1255A>G	8.37:g.59404294T>C	ENSP00000301645:p.Thr419Ala						p.T419A	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			6	1392	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	419					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1255A>G	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783800	0.31593	.	.	ENSG00000167910	ENST00000301645	T	0.60040	0.22	5.76	-1.34	0.09143	.	0.298471	0.40469	N	0.001089	T	0.27866	0.0686	N	0.11201	0.11	0.26376	N	0.976803	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.12430	T	0.62	-3.4054	6.8926	0.24238	0.0:0.4527:0.2615:0.2858	.	419	P22680	CP7A1_HUMAN	A	419	ENSP00000301645:T419A	ENSP00000301645:T419A	T	-	1	0	CYP7A1	59566848	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	2.557000	0.45871	-0.052000	0.13311	0.533000	0.62120	ACA		0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		126	501	0	0	0	1	0	126	501					C	59404294	T	C	59404294	3	2	79	1	0	0	0	0	1	0	0	0	4207	1667	58	4	263	4	CYP7A1	8	59404294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44212	59404294	86959728	9410	19727											
NSMAF	8439	broad.mit.edu	37	chr8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacatcatcaccatagaattCtggaattaactgaaagtttc	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	448	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATAGAATTCTGGAATTAAC	0.398																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1342-1344)Gaa>Taa		neutral sphingomyelinase (N-SMase) activation associated factor							79	80	80					8																	59512420		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59512420C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1342G>T	8.37:g.59512420C>A	ENSP00000038176:p.Glu448*					NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	p.E448*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			18	1554	-		all_lung(136;0.174)|Lung NSC(129;0.2)	448			BEACH.		B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.1342G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373231	0.98781	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	448;479	.	.	E	-	1	0	NSMAF	59674974	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA		0.398	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		49	277	1	0	5.82388e-19	1	6.47979e-19	49	277					A	59512420	C	A	59512420	4	1	79	1	0	0	0	0	0	1	0	0	10716	922	32	3	1467	3	NSMAF	8	59512420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108126	59512420	86851602	9411	19728											
TOX	9760	broad.mit.edu	37	chr8	59739462	59739462	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggttttctttttatagacCtgcaacaacagcaaagagtc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59739462C>A	ENST00000361421.1	-	6	1145		c.e6-1			NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box							nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTTTATAGACCTGCAACAACA	0.403																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.e6-1		thymocyte selection-associated high mobility group box							105	87	93					8																	59739462		2203	4300	6503	SO:0001630	splice_region_variant	9760					nucleus	DNA binding	g.chr8:59739462C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.925-1G>T	8.37:g.59739462C>A								NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			6	1145	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)						Q96AV5	Splice_Site	SNP	ENST00000361421.1	37		CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027275	0.93518	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOX	59902016	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.794000	0.85869	2.751000	0.94390	0.650000	0.86243	.		0.403	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	Intron	6	139	1	0	0.0215528	1	0.0216335	6	139					A	59739462	C	A	59739462	5	1	79	1	0	0	0	0	0	0	1	0	16430	695	24	3	672	3	TOX	8	59739462	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227042	59739462	86624560	9412	19729											
RAB2A	5862	broad.mit.edu	37	chr8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttacaggcagggcaagaatCctttcgttccatcacaaggt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378																																						ENST00000262646.7																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(199-201)tCc>tTc		RAB2A, member RAS oncogene family							139	142	141					8																	61496780		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61496780C>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.200C>T	8.37:g.61496780C>T	ENSP00000262646:p.Ser67Phe					RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F	p.S67F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		4	551	+			67					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.200C>T	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170618	0.94807	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.77620	-1.11;-1.11;-1.11	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.048123	0.85682	D	0.000000	D	0.88351	0.6413	M	0.76002	2.32	0.80722	D	1	D;D	0.57899	0.979;0.981	P;D	0.67548	0.9;0.952	D	0.88331	0.2968	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	43;67	B4DMQ5;P61019	.;RAB2A_HUMAN	F	67;43;67;21	ENSP00000262646:S67F;ENSP00000431846:S43F;ENSP00000431589:S67F	ENSP00000262646:S67F	S	+	2	0	RAB2A	61659334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	TCC		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			97	504	0	0	0	1	0	97	504					T	61496780	C	T	61496780	3	4	79	1	0	0	0	0	1	0	0	0	12967	855	30	2	214	2	RAB2A	8	61496780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757318	61496780	84867242	9413	19730											
CHD7	55636	broad.mit.edu	37	chr8	61729060	61729060	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacaagttcctttcagaGgtacgacatacctgcttact	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000525508.1_Splice_Site_p.E871E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	871			E -> D (in CHARGES). {ECO:0000269|PubMed:21158681}.		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.556_871dup(1)		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)			TCCTTTCAGAGGTACGACATA	0.323																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	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						c.e8+1		chromodomain helicase DNA binding protein 7							56	50	51					8																	61729060		1812	4074	5886	SO:0001630	splice_region_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.chr8:61729060G>A	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.2613+1G>A	8.37:g.61729060G>A						CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Splice_Site_p.E871_splice	p.E871_splice	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		8	3092	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	871					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Splice_Site	SNP	ENST00000423902.2	37	c.2613_splice	CCDS47865.1																																																																																				0.323	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Silent	11	60	0	0	0	1	0	11	60					A	61729060	G	A	61729060	5	1	79	1	0	0	0	0	0	0	1	0	3339	1014	35	2	2639	2	CHD7	8	61729060	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232280	61729060	84634962	9414	19731											
CHD7	55636	broad.mit.edu	37	chr8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttccagggagtataaaAacaataacaaactcagggaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	964					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)			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)			GGAGTATAAAAACAATAACAA	0.378																																						ENST00000423902.2																			0				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						c.(2890-2892)Aac>Cac		chromodomain helicase DNA binding protein 7							68	66	67					8																	61734637		1828	4080	5908	SO:0001583	missense	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.chr8:61734637A>C	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.2890A>C	8.37:g.61734637A>C	ENSP00000392028:p.Asn964His					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N964H	p.N964H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		11	3369	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	964					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2890A>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671091	0.88348	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.70595	2.14	0.80722	D	1	P;B	0.40050	0.7;0.103	P;B	0.48627	0.584;0.094	D	0.95226	0.8338	10	0.87932	D	0	-24.6046	15.9347	0.79694	1.0:0.0:0.0:0.0	.	964;964	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	H	964	ENSP00000392028:N964H;ENSP00000436027:N964H	ENSP00000307304:N964H	N	+	1	0	CHD7	61897191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.221000	0.72209	0.528000	0.53228	AAC		0.378	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		21	200	0	0	0	1	0	21	200					C	61734637	A	C	61734637	3	2	79	1	0	0	0	0	1	0	0	0	3339	14	1	4	2928	4	CHD7	8	61734637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5577	61734637	84629385	9415	19732											
CHD7	55636	broad.mit.edu	37	chr8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggccacagggtgcttAtcttttcccagatggtgcgc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1311	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)			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)			CAGGGTGCTTATCTTTTCCCA	0.473																																						ENST00000423902.2																			0				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						c.(3931-3933)Atc>Gtc		chromodomain helicase DNA binding protein 7							69	68	68					8																	61748784		2023	4194	6217	SO:0001583	missense	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.chr8:61748784A>G	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.3931A>G	8.37:g.61748784A>G	ENSP00000392028:p.Ile1311Val					CHD7_ENST00000524602.1_Intron	p.I1311V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		16	4410	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1311			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3931A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699147	0.48307	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75154	-0.91	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.066717	0.64402	D	0.000007	T	0.66867	0.2833	L	0.35593	1.075	0.58432	D	0.999999	B	0.32425	0.371	B	0.32393	0.145	T	0.68372	-0.5426	10	0.59425	D	0.04	-16.4397	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1311	Q9P2D1	CHD7_HUMAN	V	1311	ENSP00000392028:I1311V	ENSP00000307304:I1311V	I	+	1	0	CHD7	61911338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.209000	0.71365	0.533000	0.62120	ATC		0.473	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		24	122	0	0	0	1	0	24	122					G	61748784	A	G	61748784	3	3	79	1	0	0	0	0	1	0	0	0	3339	449	16	4	3989	4	CHD7	8	61748784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14147	61748784	84615238	9416	19733											
CHD7	55636	broad.mit.edu	37	chr8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggaaatgttcgacaaggCtagtttgaaactgggcctgg	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1428	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)			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)			TTCGACAAGGCTAGTTTGAAA	0.423																																						ENST00000423902.2																			0				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						c.(4282-4284)gCt>gAt		chromodomain helicase DNA binding protein 7							57	54	55					8																	61750324		1831	4076	5907	SO:0001583	missense	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.chr8:61750324C>A	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.4283C>A	8.37:g.61750324C>A	ENSP00000392028:p.Ala1428Asp					CHD7_ENST00000524602.1_Intron	p.A1428D	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		18	4762	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1428			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4283C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307885	0.95629	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77358	-1.09	5.83	5.83	0.93111	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.96489	3.83	0.80722	D	1	D	0.56035	0.974	D	0.74348	0.983	D	0.94000	0.7274	10	0.87932	D	0	-15.5774	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1428	Q9P2D1	CHD7_HUMAN	D	1428	ENSP00000392028:A1428D	ENSP00000307304:A1428D	A	+	2	0	CHD7	61912878	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GCT		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		20	92	1	0	3.51602e-12	1	3.76992e-12	20	92					A	61750324	C	A	61750324	3	1	79	1	0	0	0	0	1	0	0	0	3339	797	28	3	4349	3	CHD7	8	61750324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1540	61750324	84613698	9417	19734											
CHD7	55636	broad.mit.edu	37	chr8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctccatggtcggccaaGccagcattagtgggagtgag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2372					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)			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)			GGTCGGCCAAGCCAGCATTAG	0.512																																						ENST00000423902.2																			0				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						c.(7114-7116)Gcc>Tcc		chromodomain helicase DNA binding protein 7							35	36	36					8																	61768711		1974	4174	6148	SO:0001583	missense	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.chr8:61768711G>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.7114G>T	8.37:g.61768711G>T	ENSP00000392028:p.Ala2372Ser					CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	p.A2372S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		33	7593	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2372					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7114G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318603	0.23994	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.94	4.13	0.48395	.	0.071226	0.56097	D	0.000031	T	0.26412	0.0645	N	0.20685	0.6	0.34300	D	0.68418	B	0.16603	0.018	B	0.16722	0.016	T	0.25882	-1.0119	10	0.15066	T	0.55	-5.4239	11.7828	0.52023	0.0662:0.1237:0.8102:0.0	.	2372	Q9P2D1	CHD7_HUMAN	S	2372	ENSP00000392028:A2372S	ENSP00000307304:A2372S	A	+	1	0	CHD7	61931265	1.000000	0.71417	0.301000	0.25044	0.853000	0.48598	4.289000	0.59013	0.825000	0.34637	0.563000	0.77884	GCC		0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		16	48	1	0	9.16793e-09	1	9.60025e-09	16	48					T	61768711	G	T	61768711	3	4	79	1	0	0	0	0	1	0	0	0	3339	971	34	3	7240	3	CHD7	8	61768711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18387	61768711	84595311	9418	19735											
CHD7	55636	broad.mit.edu	37	chr8	61777910	61777910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctgccaggaatggcGggcctgcccaacgtgtttgg	15	11	0	1	rs200747690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	ENST00000423902.2	+	38	8891	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_ENST00000524602.1_Silent_p.A755A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2804					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)			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)			CAGGAATGGCGGGCCTGCCCA	0.607																																						ENST00000423902.2																			0				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						c.(8410-8412)gcG>gcA		chromodomain helicase DNA binding protein 7		G		0,4020		0,0,2010	22	26	24		8412	-8.1	0.9	8		24	1,8345		0,1,4172	no	coding-synonymous	CHD7	NM_017780.3		0,1,6182	AA,AG,GG		0.012,0.0,0.0081		2804/2998	61777910	1,12365	2010	4173	6183	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.chr8:61777910G>A	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.8412G>A	8.37:g.61777910G>A						CHD7_ENST00000524602.1_Silent_p.A755A	p.A2804A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8891	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2804					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.8412G>A	CCDS47865.1																																																																																				0.607	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	95	0	0	0	1	0	4	95					A	61777910	G	A	61777910	2	1	79	1	0	0	0	0	0	0	0	1	3339	1103	39	1		1	CHD7	8	61777910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9199	61777910	84586112	9419	19736											
CLVS1	157807	broad.mit.edu	37	chr8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatcagaagttaaacacttgGaacggagatttggccaagat	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(46-48)tgG>tgT		clavesin 1							58	57	57					8																	62212434		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212434G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.48G>T	8.37:g.62212434G>T	ENSP00000428402:p.Trp16Cys					CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|CLVS1_ENST00000518592.1_Intron	p.W16C			Q8IUQ0	CLVS1_HUMAN			3	520	+			16					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.48G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171922	0.21704	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79247	-1.25;-1.25	5.79	1.84	0.25277	.	0.842461	0.10876	N	0.624284	T	0.67163	0.2864	L	0.29908	0.895	0.58432	D	0.999995	P;P;P	0.50156	0.844;0.9;0.932	B;B;B	0.43783	0.22;0.431;0.321	T	0.60586	-0.7234	10	0.35671	T	0.21	4.8743	9.1951	0.37224	0.1096:0.2314:0.659:0.0	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	16	ENSP00000428402:W16C;ENSP00000325506:W16C	ENSP00000325506:W16C	W	+	3	0	CLVS1	62374988	1.000000	0.71417	0.293000	0.24932	0.595000	0.36748	3.253000	0.51469	0.741000	0.32674	-0.176000	0.13171	TGG		0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		40	183	1	0	1.30091e-30	1	1.52718e-30	40	183					T	62212434	G	T	62212434	3	4	79	1	0	0	0	0	1	0	0	0	3580	1183	41	3	50	3	CLVS1	8	62212434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434524	62212434	84151588	9420	19737											
ASPH	444	broad.mit.edu	37	chr8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgtgtagcccgtttcTtttggggtccaccaaggctg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000379454.4	-	21	1924	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	579					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1648-1650)aaA>aaC		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						182	157	166					8																	62460657		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62460657T>G	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1737A>C	8.37:g.62460657T>G	ENSP00000368767:p.Lys579Asn					ASPH_ENST00000379454.4_Missense_Mutation_p.K579N	p.K550N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			21	1810	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	579					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1650A>C	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799417	0.50208	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.33654	1.41;1.4	5.69	-7.0	0.01599	.	0.258295	0.43416	D	0.000564	T	0.23727	0.0574	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.48694	0.11;0.914	B;B	0.38296	0.066;0.27	T	0.34304	-0.9834	10	0.59425	D	0.04	-11.8603	11.6338	0.51192	0.093:0.6261:0.0:0.2809	.	550;579	F5H667;Q12797	.;ASPH_HUMAN	N	550;579	ENSP00000437864:K550N;ENSP00000368767:K579N	ENSP00000368767:K579N	K	-	3	2	ASPH	62623211	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.637000	0.02015	-1.314000	0.02300	0.528000	0.53228	AAA		0.433	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		141	582	0	0	0	1	0	141	582					G	62460657	T	G	62460657	3	3	79	1	0	0	0	0	1	0	0	0	1054	1606	56	4	559	4	ASPH	8	62460657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	248223	62460657	83903365	9421	19738											
ASPH	444	broad.mit.edu	37	chr8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttcccaaccctctgCatggcatcccccaggtggaa	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000379454.4	-	20	1792	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	535					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1516-1518)atG>atA		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						217	236	230					8																	62465611		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62465611C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1605G>A	8.37:g.62465611C>T	ENSP00000368767:p.Met535Ile					ASPH_ENST00000379454.4_Missense_Mutation_p.M535I	p.M506I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			20	1678	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	535					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1518G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345436	0.61073	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.29917	1.56;1.55	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.122777	0.56097	D	0.000023	T	0.21550	0.0519	N	0.14661	0.345	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29785	0.107;0.05	T	0.05835	-1.0861	10	0.54805	T	0.06	-21.9674	15.0308	0.71705	0.0:0.9303:0.0:0.0697	.	506;535	F5H667;Q12797	.;ASPH_HUMAN	I	506;535	ENSP00000437864:M506I;ENSP00000368767:M535I	ENSP00000368767:M535I	M	-	3	0	ASPH	62628165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.700000	0.92200	0.655000	0.94253	ATG		0.413	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		241	1116	0	0	0	1	0	241	1116					T	62465611	C	T	62465611	3	4	79	1	0	0	0	0	1	0	0	0	1054	710	25	2	695	2	ASPH	8	62465611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4954	62465611	83898411	9422	19739											
ASPH	444	broad.mit.edu	37	chr8	62578060	62578060	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcaattttcttatcctttCggacatcctctttcttcccc	3	15	3	0	rs555432849		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62578060C>T	ENST00000379454.4	-	4	510				ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000389204.4_Missense_Mutation_p.R143Q|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000518068.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	cttatcctttcggacatcctc	0.408																																						ENST00000389204.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(427-429)cGa>cAa		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						144	116	125					8																	62578060		2180	4240	6420	SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62578060C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.323-11841G>A	8.37:g.62578060C>T						ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron	p.R143Q	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN			6	513	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	155			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.428G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	1.577	-0.532715	0.04112	.	.	ENSG00000198363	ENST00000389204;ENST00000522603	T;T	0.54866	0.55;0.55	4.82	1.99	0.26369	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.32244	N	0.57236	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30446	-0.9978	8	0.27785	T	0.31	.	5.6765	0.17751	0.1561:0.6738:0.0:0.1701	.	128;143	Q12797-4;Q12797-3	.;.	Q	143;128	ENSP00000373856:R143Q;ENSP00000436188:R128Q	ENSP00000373856:R143Q	R	-	2	0	ASPH	62740614	0.371000	0.25056	0.191000	0.23289	0.071000	0.16799	0.621000	0.24418	0.298000	0.22638	-0.181000	0.13052	CGA		0.408	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	33	0	0	0	1	0	7	33					T	62578060	C	T	62578060	1	4	79	0	1	0	0	0	0	0	0	0	1054	884	31	1		1	ASPH	8	62578060	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112449	62578060	83785962	9423	19740											
NKAIN3	286183	broad.mit.edu	37	chr8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgattacacgtacgtctctGtcacaggctgcatcgttgac	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(403-405)Gtc>Atc		Na+/K+ transporting ATPase interacting 3							124	125	125					8																	63659620		2082	4217	6299	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659620G>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.403G>A	8.37:g.63659620G>A	ENSP00000429073:p.Val135Ile					NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I|NKAIN3_ENST00000519049.1_3'UTR	p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			4	535	+	Breast(64;0.127)	Lung NSC(129;0.187)	135						Missense_Mutation	SNP	ENST00000523211.1	37	c.403G>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309719	0.60414	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.15256	2.44;2.44	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.20618	0.0496	L	0.55103	1.725	0.44395	D	0.997307	P	0.39443	0.674	B	0.36418	0.224	T	0.01390	-1.1367	10	0.46703	T	0.11	-20.8503	18.3654	0.90389	0.0:0.0:1.0:0.0	.	135	Q8N8D7	NKAI3_HUMAN	I	135	ENSP00000429073:V135I;ENSP00000333627:V135I	ENSP00000333627:V135I	V	+	1	0	NKAIN3	63822174	1.000000	0.71417	0.954000	0.39281	0.744000	0.42396	6.307000	0.72815	2.583000	0.87209	0.650000	0.86243	GTC		0.493	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		26	131	0	0	0	1	0	26	131					A	63659620	G	A	63659620	3	1	79	1	0	0	0	0	1	0	0	0	10479	1377	48	2	417	2	NKAIN3	8	63659620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1081560	63659620	82704402	9424	19741											
GGH	8836	broad.mit.edu	37	chr8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagactttcaatcaaaTatgtaacattgctgaaatga	6	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	316	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TTCAATCAAATATGTAACATT	0.299																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(946-948)atA>atG		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						53	53	53					8																	63927900		2196	4291	6487	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63927900T>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.948A>G	8.37:g.63927900T>C	ENSP00000260118:p.Ile316Met						p.I316M	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			9	1350	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	316			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.948A>G	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043502	0.36085	.	.	ENSG00000137563	ENST00000260118	T	0.44881	0.91	5.74	-6.28	0.02020	.	0.447666	0.28093	N	0.016622	T	0.17152	0.0412	N	0.25031	0.7	0.27732	N	0.944785	B	0.22276	0.067	B	0.20184	0.028	T	0.03795	-1.1003	10	0.35671	T	0.21	-16.6356	1.2416	0.01964	0.3572:0.2029:0.3014:0.1386	.	316	Q92820	GGH_HUMAN	M	316	ENSP00000260118:I316M	ENSP00000260118:I316M	I	-	3	3	GGH	64090454	0.986000	0.35501	0.811000	0.32455	0.959000	0.62525	0.101000	0.15251	-0.758000	0.04690	0.528000	0.53228	ATA		0.299	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			12	66	0	0	0	1	0	12	66					C	63927900	T	C	63927900	3	2	79	1	0	0	0	0	1	0	0	0	6386	1396	49	4	12	4	GGH	8	63927900	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	268280	63927900	82436122	9425	19742											
BHLHE22	27319	broad.mit.edu	37	chr8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccaaagagcaaaaggCgctgcggcttaacatcaatg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	242	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(724-726)gCg>gTg		basic helix-loop-helix family, member e22							14	16	16					8																	65494072		2189	4297	6486	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494072C>T	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.725C>T	8.37:g.65494072C>T	ENSP00000318799:p.Ala242Val					RP11-21C4.1_ENST00000517909.1_RNA	p.A242V	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1259	+			242						Missense_Mutation	SNP	ENST00000321870.1	37	c.725C>T	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965507	0.18583	.	.	ENSG00000180828	ENST00000321870	T	0.80304	-1.36	4.02	3.13	0.36017	Helix-loop-helix DNA-binding (2);	0.803881	0.10963	U	0.614705	T	0.66470	0.2792	N	0.17631	0.505	0.28152	N	0.929339	P	0.41041	0.736	B	0.32928	0.155	T	0.56679	-0.7939	10	0.46703	T	0.11	0.9187	13.2565	0.60081	0.0:0.8386:0.1614:0.0	.	242	Q8NFJ8	BHE22_HUMAN	V	242	ENSP00000318799:A242V	ENSP00000318799:A242V	A	+	2	0	BHLHE22	65656626	0.950000	0.32346	1.000000	0.80357	0.399000	0.30720	1.823000	0.39062	0.851000	0.35264	-0.502000	0.04539	GCG		0.672	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		9	87	0	0	0	1	0	9	87					T	65494072	C	T	65494072	3	4	79	1	0	0	0	0	1	0	0	0	1423	768	27	1	727	1	BHLHE22	8	65494072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566172	65494072	80869950	9426	19743											
ARMC1	55156	broad.mit.edu	37	chr8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttaactaccgatagagCgtcaggctcttcactcatgg	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	14					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(40-42)Gct>Act		armadillo repeat containing 1							134	124	127					8																	66539594		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66539594C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.40G>A	8.37:g.66539594C>T	ENSP00000276569:p.Ala14Thr					ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	p.A14T	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		2	284	-			14					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.40G>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548034	0.86022	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.36378	0.223	T	0.60870	-0.7177	10	0.59425	D	0.04	.	19.6375	0.95740	0.0:1.0:0.0:0.0	.	14	Q9NVT9	ARMC1_HUMAN	T	14	ENSP00000276569:A14T;ENSP00000429191:A14T;ENSP00000429715:A14T	ENSP00000276569:A14T	A	-	1	0	ARMC1	66702148	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.474000	0.81024	2.640000	0.89533	0.655000	0.94253	GCT		0.423	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		96	429	0	0	0	1	0	96	429					T	66539594	C	T	66539594	3	4	79	1	0	0	0	0	1	0	0	0	950	768	27	1	832	1	ARMC1	8	66539594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1045522	66539594	79824428	9427	19744											
MTFR1	9650	broad.mit.edu	37	chr8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacttagattctaccaCatttggtaccataccaccac	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	179	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(535-537)aCa>aTa		mitochondrial fission regulator 1							89	91	90					8																	66619263		2200	4299	6499	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66619263C>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.536C>T	8.37:g.66619263C>T	ENSP00000262146:p.Thr179Ile					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	p.T179I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	662	+			179					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.536C>T	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.510237|1.510237	0.27036|0.27036	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.49432	.|0.78;0.78	5.49|5.49	2.42|2.42	0.29668|0.29668	.|.	.|0.976929	.|0.08443	.|N	.|0.945124	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17465	.|0.022;0.004;0.002;0.005	.|B;B;B;B	.|0.20384	.|0.029;0.014;0.002;0.011	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.36615	.|T	.|0.2	0.3655|0.3655	7.3468|7.3468	0.26668|0.26668	0.0:0.5859:0.3241:0.09|0.0:0.5859:0.3241:0.09	.|.	.|179;163;146;179	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	Y|I	137|163;179;146	.|ENSP00000262146:T179I;ENSP00000391502:T146I	.|ENSP00000262146:T179I	H|T	+|+	1|2	0|0	MTFR1|MTFR1	66781817|66781817	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.650000|0.650000	0.38633|0.38633	0.112000|0.112000	0.15479|0.15479	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	CAT|ACA		0.438	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		29	323	0	0	0	1	0	29	323					T	66619263	C	T	66619263	3	4	79	1	0	0	0	0	1	0	0	0	9966	478	17	2	554	2	MTFR1	8	66619263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79669	66619263	79744759	9428	19745											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catatacgacaagtacggatCgctgggactctacgtggccg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	85						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTACGGATCGCTGGGACTC	0.463																																						ENST00000276570.5																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(253-255)tCg>tTg		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							189	157	168					8																	66989029		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66989029C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.254C>T	8.37:g.66989029C>T	ENSP00000276570:p.Ser85Leu					DNAJC5B_ENST00000519330.1_3'UTR	p.S85L	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	541	+		Lung NSC(129;0.114)|all_lung(136;0.188)	85					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.254C>T	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333965	0.95758	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72725	-0.68;-0.68	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88780	0.3270	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	85	Q9UF47	DNJ5B_HUMAN	L	85	ENSP00000276570:S85L;ENSP00000430196:S85L	ENSP00000276570:S85L	S	+	2	0	DNAJC5B	67151583	1.000000	0.71417	0.964000	0.40570	0.818000	0.46254	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG		0.463	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		23	704	0	0	0	1	0	23	704					T	66989029	C	T	66989029	3	4	79	1	0	0	0	0	1	0	0	0	4667	893	31	1	260	1	DNAJC5B	8	66989029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369766	66989029	79374993	9429	19746											
TRIM55	84675	broad.mit.edu	37	chr8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctctaacccgtatttgCccacaagaggaggtaccacc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	63					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCGTATTTGCCCACAAGAGG	0.478																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(187-189)Ccc>Tcc		tripartite motif containing 55							111	111	111					8																	67040557		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040557C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.187C>T	8.37:g.67040557C>T	ENSP00000323913:p.Pro63Ser					TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S	p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	560	+		Lung NSC(129;0.138)|all_lung(136;0.221)	63					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.187C>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983031	0.53827	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.45;1.51;1.46;1.08	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.047540	0.85682	D	0.000000	T	0.25531	0.0621	N	0.02916	-0.46	0.47153	D	0.999333	B;B;B;B	0.21688	0.021;0.059;0.012;0.01	B;B;B;B	0.23150	0.039;0.018;0.044;0.037	T	0.10154	-1.0642	10	0.41790	T	0.15	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	63;63;63;63	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	63	ENSP00000323913:P63S;ENSP00000297348:P63S;ENSP00000276573:P63S;ENSP00000332302:P63S	ENSP00000276573:P63S	P	+	1	0	TRIM55	67203111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.660000	0.90430	0.650000	0.86243	CCC		0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		98	479	0	0	0	1	0	98	479					T	67040557	C	T	67040557	3	4	79	1	0	0	0	0	1	0	0	0	16582	739	26	2	193	2	TRIM55	8	67040557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51528	67040557	79323465	9430	19747											
ADHFE1	137872	broad.mit.edu	37	chr8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctaaaaaacatgggtgCtaaaaatgtgtgcttgatga	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	73					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AACATGGGTGCTAAAAATGTG	0.423																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(217-219)gCt>gTt		alcohol dehydrogenase, iron containing, 1							181	174	176					8																	67356848		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67356848C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.218C>T	8.37:g.67356848C>T	ENSP00000379865:p.Ala73Val					ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V	p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		5	249	+		Lung NSC(129;0.197)	73					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.218C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.291775	0.95546	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.78	5.78	0.91487	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48935	1.535	0.80722	D	1	B	0.27700	0.186	B	0.33121	0.158	T	0.22730	-1.0208	10	0.38643	T	0.18	-0.8193	20.0215	0.97504	0.0:1.0:0.0:0.0	.	73	Q8IWW8	HOT_HUMAN	V	8;73;73;25	ENSP00000428055:A8V;ENSP00000368695:A73V;ENSP00000379865:A73V;ENSP00000407115:A25V	ENSP00000368695:A73V	A	+	2	0	ADHFE1	67519402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.743000	0.94032	0.655000	0.94253	GCT		0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		133	624	0	0	0	1	0	133	624					T	67356848	C	T	67356848	3	4	79	1	0	0	0	0	1	0	0	0	314	797	28	2	236	2	ADHFE1	8	67356848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316291	67356848	79007174	9431	19748											
ADHFE1	137872	broad.mit.edu	37	chr8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggctatccacgcgctgCggatcgtggctaagtatctg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	288					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACGCGCTGCGGATCGTGGC	0.567																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(862-864)Cgg>Tgg		alcohol dehydrogenase, iron containing, 1							99	81	87					8																	67364315		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67364315C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.862C>T	8.37:g.67364315C>T	ENSP00000379865:p.Arg288Trp					ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W	p.R288W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		9	893	+		Lung NSC(129;0.197)	288					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.862C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996950	0.54147	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.50548	0.74;0.74;0.74	5.52	0.228	0.15364	Alcohol dehydrogenase, iron-type (1);	0.293196	0.30771	N	0.008903	T	0.71126	0.3303	M	0.91612	3.225	0.22112	N	0.999358	D	0.65815	0.995	P	0.62382	0.901	T	0.71659	-0.4526	10	0.87932	D	0	-12.5708	16.6911	0.85322	0.6885:0.3115:0.0:0.0	.	288	Q8IWW8	HOT_HUMAN	W	288;288;240	ENSP00000368695:R288W;ENSP00000379865:R288W;ENSP00000407115:R240W	ENSP00000368695:R288W	R	+	1	2	ADHFE1	67526869	0.000000	0.05858	0.112000	0.21494	0.712000	0.41017	-0.659000	0.05323	-0.256000	0.09473	-0.194000	0.12790	CGG		0.567	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		55	211	0	0	0	1	0	55	211					T	67364315	C	T	67364315	3	4	79	1	0	0	0	0	1	0	0	0	314	759	27	1	896	1	ADHFE1	8	67364315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7467	67364315	78999707	9432	19749											
ADHFE1	137872	broad.mit.edu	37	chr8	67369306	67369306	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcgtttctccccagcCccatggcctttctgtggtgc	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000415254.1_Splice_Site_p.P308L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	356					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTCCCCAGCCCCATGGCCTT	0.522																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.e12-1		alcohol dehydrogenase, iron containing, 1							174	160	165					8																	67369306		2203	4300	6503	SO:0001630	splice_region_variant	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67369306C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1066-1C>T	8.37:g.67369306C>T						ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308_splice	p.P356_splice	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		12	1098	+		Lung NSC(129;0.197)	356					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Splice_Site	SNP	ENST00000396623.3	37	c.1065_splice	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.403705	0.96051	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.98314	4.2	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.88264	0.2925	10	0.87932	D	0	-10.1005	20.1084	0.97900	0.0:1.0:0.0:0.0	.	356	Q8IWW8	HOT_HUMAN	L	356;308	ENSP00000379865:P356L;ENSP00000407115:P308L	ENSP00000379865:P356L	P	+	2	0	ADHFE1	67531860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.690000	0.84178	2.752000	0.94435	0.563000	0.77884	CCC		0.522	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	Missense_Mutation	32	954	0	0	0	1	0	32	954					T	67369306	C	T	67369306	5	4	79	1	0	0	0	0	0	0	1	0	314	637	22	2	1113	2	ADHFE1	8	67369306	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	67369306	78994716	9433	19750											
C8orf46	254778	broad.mit.edu	37	chr8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggctgaaatgatgcatcaGatttacagctgcagtgacga	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000305454.3	+	1	453	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512																																						ENST00000305454.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6						c.(10-12)caG>caT		chromosome 8 open reading frame 46							110	93	99					8																	67405895		2203	4300	6503	SO:0001583	missense	254778							g.chr8:67405895G>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.12G>T	8.37:g.67405895G>T	ENSP00000302260:p.Gln4His					C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H	p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	453	+			4					B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	37	c.12G>T	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434499	0.83776	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.98	5.98	0.97165	.	0.087235	0.50627	D	0.000108	T	0.68805	0.3041	L	0.36672	1.1	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.964	T	0.69555	-0.5114	9	0.72032	D	0.01	-10.6183	18.6387	0.91387	0.0:0.0:1.0:0.0	.	4;4	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	4	.	ENSP00000302260:Q4H	Q	+	3	2	C8orf46	67568449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.740000	0.47418	2.835000	0.97688	0.650000	0.86243	CAG		0.512	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		56	259	1	0	4.09171e-25	1	4.69077e-25	56	259					T	67405895	G	T	67405895	3	4	79	1	0	0	0	0	1	0	0	0	2438	933	33	3	14	3	C8orf46	8	67405895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36589	67405895	78958127	9434	19751											
VCPIP1	80124	broad.mit.edu	37	chr8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtaaccatggactgtcGtccatcattagttgtgattc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	785					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R785*(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGGACTGTCGTCCATCATTA	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			1	Substitution - Nonsense(1)	p.R785*(1)	large_intestine(1)	breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2353-2355)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							180	171	174					8																	67576841		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576841G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2353C>T	8.37:g.67576841G>A	ENSP00000309031:p.Arg785*						p.R785*	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2611	-		Lung NSC(129;0.142)|all_lung(136;0.227)	785					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.2353C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	42	9.250744	0.99115	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.574	14.0684	0.64847	0.0:0.0:0.612:0.388	.	.	.	.	X	785	.	ENSP00000309031:R785X	R	-	1	2	VCPIP1	67739395	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.421000	0.44688	1.476000	0.48215	0.655000	0.94253	CGA		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			17	749	0	0	0	1	0	17	749					A	67576841	G	A	67576841	4	1	79	1	0	0	0	0	0	1	0	0	17195	1153	40	1	1327	1	VCPIP1	8	67576841	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170946	67576841	78787181	9435	19752											
VCPIP1	80124	broad.mit.edu	37	chr8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcctctgacctttcGcacagatgtgccatggcacc	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	547					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGACCTTTCGCACAGATGTG	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1639-1641)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							199	182	188					8																	67577555		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577555G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1639C>T	8.37:g.67577555G>A	ENSP00000309031:p.Arg547*						p.R547*	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1897	-		Lung NSC(129;0.142)|all_lung(136;0.227)	547					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.1639C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.657651	0.98415	.	.	ENSG00000175073	ENST00000310421	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3201	18.6399	0.91392	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000309031:R547X	R	-	1	2	VCPIP1	67740109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.454000	0.82982	0.650000	0.86243	CGA		0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			205	900	0	0	0	1	0	205	900					A	67577555	G	A	67577555	4	1	79	1	0	0	0	0	0	1	0	0	17195	1095	38	1	2041	1	VCPIP1	8	67577555	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	67577555	78786467	9436	19753											
VCPIP1	80124	broad.mit.edu	37	chr8	67577597	67577597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaagctgttaggttacTcattccatagtctggtacca	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577597T>G	ENST00000310421.4	-	1	1855	c.1597A>C	c.(1597-1599)Agt>Cgt	p.S533R	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	533					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GTTAGGTTACTCATTCCATAG	0.418																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1597-1599)Agt>Cgt		valosin containing protein (p97)/p47 complex interacting protein 1							196	191	192					8																	67577597		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577597T>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1597A>C	8.37:g.67577597T>G	ENSP00000309031:p.Ser533Arg						p.S533R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1855	-		Lung NSC(129;0.142)|all_lung(136;0.227)	533					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1597A>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867346	0.51588	.	.	ENSG00000175073	ENST00000310421	T	0.33438	1.41	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44847	-0.9301	10	0.51188	T	0.08	-10.8549	15.2357	0.73430	0.0:0.0:0.0:1.0	.	533	Q96JH7	VCIP1_HUMAN	R	533	ENSP00000309031:S533R	ENSP00000309031:S533R	S	-	1	0	VCPIP1	67740151	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	1.988000	0.58038	0.528000	0.53228	AGT		0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			19	1150	0	0	0	1	0	19	1150					G	67577597	T	G	67577597	3	3	79	1	0	0	0	0	1	0	0	0	17195	1551	54	4	2083	4	VCPIP1	8	67577597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42	67577597	78786425	9437	19754											
VCPIP1	80124	broad.mit.edu	37	chr8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaagattctctcttaAggcatgccagaagagctctc	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	238	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTCTCTTAAGGCATGCCAG	0.512																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(712-714)Tta>Gta		valosin containing protein (p97)/p47 complex interacting protein 1							84	80	81					8																	67578482		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578482A>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.712T>G	8.37:g.67578482A>C	ENSP00000309031:p.Leu238Val						p.L238V	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	970	-		Lung NSC(129;0.142)|all_lung(136;0.227)	238			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.712T>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022707	0.54683	.	.	ENSG00000175073	ENST00000310421	T	0.44881	0.91	6.16	-1.24	0.09435	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.81942	2.565	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	T	0.69011	-0.5258	10	0.87932	D	0	-6.8277	15.0651	0.71986	0.2283:0.0:0.7717:0.0	.	238	Q96JH7	VCIP1_HUMAN	V	238	ENSP00000309031:L238V	ENSP00000309031:L238V	L	-	1	2	VCPIP1	67741036	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.171000	0.50824	-0.196000	0.10366	0.528000	0.53228	TTA		0.512	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			70	274	0	0	0	1	0	70	274					C	67578482	A	C	67578482	3	2	79	1	0	0	0	0	1	0	0	0	17195	69	3	4	2968	4	VCPIP1	8	67578482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885	67578482	78785540	9438	19755											
SGK3	23678	broad.mit.edu	37	chr8	67710851	67710851	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagagtttgataaactTtataacactgtaagtaatcg	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000520976.1_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	57	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)			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)			TTGATAAACTTTATAACACTG	0.303																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(169-171)ctT>ctG		serum/glucocorticoid regulated kinase family, member 3							140	154	149					8																	67710851		2203	4299	6502	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67710851T>G		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.171T>G	8.37:g.67710851T>G						SGK3_ENST00000520976.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L	p.L57L	NM_013257.4	NP_037389.4	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)		3	385	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	57			PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.171T>G	CCDS6195.1																																																																																				0.303	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			30	598	0	0	0	1	0	30	598					G	67710851	T	G	67710851	2	3	79	1	0	0	0	0	0	0	0	1	14262	1828	64	4		4	SGK3	8	67710851	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132369	67710851	78653171	9439	19756											
SGK3	23678	broad.mit.edu	37	chr8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatagtgaatgccagtgtaTtggaggcagatgatgcattc	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	476	AGC-kinase C-terminal.				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)			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)			TGCCAGTGTATTGGAGGCAGA	0.378																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1426-1428)Ttg>Gtg		serum/glucocorticoid regulated kinase family, member 3							265	223	237					8																	67771751		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.chr8:67771751T>G		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.1426T>G	8.37:g.67771751T>G	ENSP00000379842:p.Leu476Val					SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V	p.L476V	NM_013257.4	NP_037389.4	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)		17	1640	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	476			AGC-kinase C-terminal.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.1426T>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198526	0.22037	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.41	-0.871	0.10642	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112392	0.64402	D	0.000012	T	0.34890	0.0913	L	0.45470	1.425	0.32286	N	0.566956	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.017	T	0.08994	-1.0695	9	0.29301	T	0.29	.	1.8129	0.03094	0.228:0.4477:0.1051:0.2193	.	444;476	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	476;476;476;476;444;476;476	ENSP00000429022:L476V;ENSP00000430463:L476V;ENSP00000430256:L476V;ENSP00000430691:L444V;ENSP00000379842:L476V;ENSP00000331816:L476V	ENSP00000262211:L476V	L	+	1	2	SGK3	67934305	0.736000	0.28164	0.297000	0.24988	0.994000	0.84299	1.425000	0.34859	-0.067000	0.12976	0.528000	0.53228	TTG		0.378	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			89	365	0	0	0	1	0	89	365					G	67771751	T	G	67771751	3	3	79	1	0	0	0	0	1	0	0	0	14262	1490	52	4	1488	4	SGK3	8	67771751	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60900	67771751	78592271	9440	19757											
C8orf45	157777	broad.mit.edu	37	chr8	67789596	67789596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttattagattaatatagtgCtgaaattaacacatttacct	4	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67789596C>A	ENST00000422365.2	+	5	469	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37M|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100M|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100M|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100M	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	100					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TAATATAGTGCTGAAATTAAC	0.279																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(298-300)Ctg>Atg		minichromosome maintenance domain containing 2							64	61	62					8																	67789596		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67789596C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.298C>A	8.37:g.67789596C>A	ENSP00000413632:p.Leu100Met					MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100M|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100M|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100M|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37M|MCMDC2_ENST00000469823.1_3'UTR	p.L100M	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			5	469	+			100					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.298C>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482776	0.63962	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32988	3.54;3.54;3.54;3.54;1.43	4.93	4.05	0.47172	.	0.163747	0.41823	D	0.000806	T	0.51109	0.1655	M	0.64997	1.995	0.49798	D	0.999828	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.50874	-0.8776	10	0.48119	T	0.1	-3.1261	13.4441	0.61129	0.0:0.9233:0.0:0.0767	.	37;100;100;100	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	M	100;100;100;100;37	ENSP00000379837:L100M;ENSP00000413632:L100M;ENSP00000428037:L100M;ENSP00000317234:L100M;ENSP00000445629:L37M	ENSP00000317234:L100M	L	+	1	2	C8orf45	67952150	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.260000	0.43267	1.175000	0.42826	0.591000	0.81541	CTG		0.279	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		24	158	1	0	1.1804e-14	1	1.28451e-14	24	158					A	67789596	C	A	67789596	3	1	79	1	0	0	0	0	1	0	0	0	2437	796	28	3	312	3	C8orf45	8	67789596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17845	67789596	78574426	9441	19758											
C8orf45	157777	broad.mit.edu	37	chr8	67803173	67803173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctactgaaatttttcccactCtatccaggaataagtatgga	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67803173C>A	ENST00000422365.2	+	10	1318	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.L320I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L383I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L383I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	383					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCCACTCTATCCAGGAA	0.408																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1147-1149)Cta>Ata		minichromosome maintenance domain containing 2							107	108	108					8																	67803173		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803173C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1147C>A	8.37:g.67803173C>A	ENSP00000413632:p.Leu383Ile					MCMDC2_ENST00000313616.5_Missense_Mutation_p.L383I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L383I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L320I	p.L383I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			10	1318	+			383					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1147C>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198031	0.22037	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.84	-7.66	0.01277	.	0.375035	0.24899	N	0.034716	T	0.16981	0.0408	L	0.34521	1.04	0.21499	N	0.999668	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.04400	-1.0954	10	0.39692	T	0.17	1.162	3.8609	0.08996	0.1532:0.1386:0.461:0.2472	.	320;383;383	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	I	255;383;383;383;320	ENSP00000379837:L383I;ENSP00000413632:L383I;ENSP00000317234:L383I;ENSP00000445629:L320I	ENSP00000317234:L383I	L	+	1	2	C8orf45	67965727	0.994000	0.37717	0.087000	0.20705	0.724000	0.41520	0.293000	0.19029	-1.208000	0.02634	-1.265000	0.01443	CTA		0.408	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		88	461	1	0	1.13884e-41	1	1.38436e-41	88	461					A	67803173	C	A	67803173	3	1	79	1	0	0	0	0	1	0	0	0	2437	912	32	3	1181	3	C8orf45	8	67803173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13577	67803173	78560849	9442	19759											
LRRC67	286187	broad.mit.edu	37	chr8	67926689	67926689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttctttaatgacctgaGgttctctatacatgaaatac	6	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67926689G>A	ENST00000324682.5	-	3	412	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000522909.1_Missense_Mutation_p.L90F	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	90					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										AATGACCTGAGGTTCTCTATA	0.284																																						ENST00000522909.1																			0											c.(268-270)Ctc>Ttc		protein phosphatase 1, regulatory subunit 42							88	97	94					8																	67926689		2203	4292	6495	SO:0001583	missense	286187							g.chr8:67926689G>A	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.268C>T	8.37:g.67926689G>A	ENSP00000315035:p.Leu90Phe					PPP1R42_ENST00000324682.5_Missense_Mutation_p.L90F|PPP1R42_ENST00000517834.1_Intron	p.L90F			Q7Z4L9	LRC67_HUMAN			3	452	-			90						Missense_Mutation	SNP	ENST00000324682.5	37	c.268C>T	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418317	0.83449	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.82193	2.58	0.58432	D	0.999993	D	0.76494	0.999	D	0.76575	0.988	T	0.53989	-0.8360	10	0.87932	D	0	-2.997	15.5585	0.76219	0.0:0.0:0.8615:0.1385	.	90	Q7Z4L9-2	.	F	90	ENSP00000429721:L90F;ENSP00000315035:L90F	ENSP00000315035:L90F	L	-	1	0	LRRC67	68089243	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.291000	0.72719	2.721000	0.93114	0.591000	0.81541	CTC		0.284	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		82	413	0	0	0	1	0	82	413					A	67926689	G	A	67926689	3	1	79	1	0	0	0	0	1	0	0	0	9057	1000	35	2	434	2	LRRC67	8	67926689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123516	67926689	78437333	9443	19760											
CSPP1	79848	broad.mit.edu	37	chr8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttcaggaatgatgggcGtacagcctgcagcttatgtt	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1624-1626)Gta>Ata		centrosome and spindle pole associated protein 1							71	65	67					8																	68030998		1838	4077	5915	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68030998G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1624G>A	8.37:g.68030998G>A	ENSP00000262210:p.Val542Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	p.V542I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		13	1655	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	577					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1624G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	CSPP1	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		30	157	0	0	0	1	0	30	157					A	68030998	G	A	68030998	3	1	79	1	0	0	0	0	1	0	0	0	3973	1145	40	1	1787	1	CSPP1	8	68030998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104309	68030998	78333024	9444	19761											
ARFGEF1	10565	broad.mit.edu	37	chr8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaggcactaacgcGgctctcatccatgtacatcc	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5227-5229)Cgc>Tgc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							82	74	77					8																	68113742		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68113742G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5227C>T	8.37:g.68113742G>A	ENSP00000262215:p.Arg1743Cys					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	p.R1743C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		37	5616	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1743					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.5227C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC		0.547	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		13	300	0	0	0	1	0	13	300					A	68113742	G	A	68113742	3	1	79	1	0	0	0	0	1	0	0	0	852	1116	39	1	334	1	ARFGEF1	8	68113742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82744	68113742	78250280	9445	19762											
ARFGEF1	10565	broad.mit.edu	37	chr8	68117025	68117025	+	Silent	SNP	G	G	A													cacaacacatttaatcaacaGggcagcaaacaatttttgtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000520381.1_Silent_p.L1071L|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Silent_p.L455L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1617					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAATCAACAGGGCAGCAAAC	0.383																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4849-4851)Ctg>Ttg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							96	88	91					8																	68117025		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68117025G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4849C>T	8.37:g.68117025G>A						ARFGEF1_ENST00000518230.1_Silent_p.L455L|ARFGEF1_ENST00000520381.1_Silent_p.L1071L	p.L1617L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5238	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1617					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.4849C>T	CCDS6199.1																																																																																				0.383	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		80	421	0	0	0	1	0	80	421					A	68117025	G	A	68117025	2	1	79	1	0	0	0	0	0	0	0	1	852	991	35	2		2	ARFGEF1	8	68117025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3283	68117025	78246997	9446	19763	123	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A													caacacatttaatcaacaggGcagcaaacaatttttgttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1616					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATCAACAGGGCAGCAAACAA	0.373																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4846-4848)gCc>gTc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							94	87	89					8																	68117027		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68117027G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4847C>T	8.37:g.68117027G>A	ENSP00000262215:p.Ala1616Val					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V	p.A1616V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5236	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1616					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4847C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936052	0.73442	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.51817	0.69;0.69;0.69	6.07	6.07	0.98685	.	0.054916	0.64402	D	0.000001	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19935	0.017;0.04;0.022	B;B;B	0.18561	0.022;0.022;0.01	T	0.10730	-1.0617	10	0.38643	T	0.18	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1616;440;1070	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	V	1070;1616;454	ENSP00000428429:A1070V;ENSP00000262215:A1616V;ENSP00000430891:A454V	ENSP00000262215:A1616V	A	-	2	0	ARFGEF1	68279581	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GCC		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		109	388	0	0	0	1	0	109	388					A	68117027	G	A	68117027	3	1	79	1	0	0	0	0	1	0	0	0	852	1203	42	2	722	2	ARFGEF1	8	68117027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	68117027	78246995	9447	19764	123	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacttcttcattaacaGcagacgcagaaaccagtggt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1594					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATTAACAGCAGACGCAGA	0.328																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4780-4782)gCt>gAt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							55	56	56					8																	68123756		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123756G>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4781C>A	8.37:g.68123756G>T	ENSP00000262215:p.Ala1594Asp					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	p.A1594D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5170	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1594					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4781C>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482276	0.04383	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.43688	2.94;2.11;0.94	5.29	4.18	0.49190	.	0.940533	0.08909	N	0.876178	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.15484	0.013;0.004;0.004	T	0.20405	-1.0276	10	0.13108	T	0.6	.	6.2718	0.20959	0.1256:0.0:0.6963:0.1781	.	1594;1072;1048	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	1048;1594;432	ENSP00000428429:A1048D;ENSP00000262215:A1594D;ENSP00000430891:A432D	ENSP00000262215:A1594D	A	-	2	0	ARFGEF1	68286310	0.378000	0.25114	0.985000	0.45067	0.105000	0.19272	1.906000	0.39887	2.631000	0.89168	0.655000	0.94253	GCT		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	255	1	0	7.07596e-05	1	7.20791e-05	18	255					T	68123756	G	T	68123756	3	4	79	1	0	0	0	0	1	0	0	0	852	971	34	3	792	3	ARFGEF1	8	68123756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6729	68123756	78240266	9448	19765											
ARFGEF1	10565	broad.mit.edu	37	chr8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacgtacctcaatttgcatCttcagatgtgtcttgaaatt	6	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	520					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATTTGCATCTTCAGATGTG	0.318																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1558-1560)aaG>aaT		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							47	47	47					8																	68183949		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68183949C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1560G>T	8.37:g.68183949C>A	ENSP00000262215:p.Lys520Asn						p.K520N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1949	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	520					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1560G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715340	0.68844	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.44	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.66056	D	0.02	.	8.3321	0.32193	0.0:0.7776:0.0:0.2224	.	520	Q9Y6D6	BIG1_HUMAN	N	520	ENSP00000262215:K520N	ENSP00000262215:K520N	K	-	3	2	ARFGEF1	68346503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.531000	0.36018	2.545000	0.85829	0.585000	0.79938	AAG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		29	130	1	0	7.26314e-15	1	7.90818e-15	29	130					A	68183949	C	A	68183949	3	1	79	1	0	0	0	0	1	0	0	0	852	912	32	3	4109	3	ARFGEF1	8	68183949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60193	68183949	78180073	9449	19766											
ARFGEF1	10565	broad.mit.edu	37	chr8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaatcatggttttctcCgtcatataacacttcatttt	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	316			G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTTTTCTCCGTCATATAAC	0.294																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(946-948)Gga>Aga		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							194	186	189					8																	68200271		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68200271C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.946G>A	8.37:g.68200271C>T	ENSP00000262215:p.Gly316Arg						p.G316R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	1335	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	316		G -> E (in a colorectal cancer sample; somatic mutation).			Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.946G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244567	0.59103	.	.	ENSG00000066777	ENST00000262215	T	0.18960	2.18	5.39	5.39	0.77823	Armadillo-type fold (1);	0.132011	0.52532	D	0.000071	T	0.19685	0.0473	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06006	-1.0851	10	0.17832	T	0.49	.	19.5127	0.95148	0.0:1.0:0.0:0.0	.	316	Q9Y6D6	BIG1_HUMAN	R	316	ENSP00000262215:G316R	ENSP00000262215:G316R	G	-	1	0	ARFGEF1	68362825	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.952000	0.56691	2.688000	0.91661	0.460000	0.39030	GGA		0.294	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		68	393	0	0	0	1	0	68	393					T	68200271	C	T	68200271	3	4	79	1	0	0	0	0	1	0	0	0	852	661	23	1	4735	1	ARFGEF1	8	68200271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16322	68200271	78163751	9450	19767											
PREX2	80243	broad.mit.edu	37	chr8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacacattgttgttaAtggatggaagatacataaca	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	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	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						ATTGTTGTTAATGGATGGAAG	0.318																																						ENST00000288368.4																			0				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						c.(976-978)aAt>aGt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							106	94	98					8																	68965365		2203	4300	6503	SO:0001583	missense	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.chr8:68965365A>G	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.977A>G	8.37:g.68965365A>G	ENSP00000288368:p.Asn326Ser					PREX2_ENST00000529398.1_3'UTR	p.N326S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1254	+			326			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.977A>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669176	0.88348	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.89552	-2.53	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96430	0.9318	10	0.72032	D	0.01	.	15.6423	0.77016	1.0:0.0:0.0:0.0	.	326;326;326	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	S	326	ENSP00000288368:N326S	ENSP00000288368:N326S	N	+	2	0	PREX2	69127919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.518000	0.81795	2.100000	0.63781	0.533000	0.62120	AAT		0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		66	267	0	0	0	1	0	66	267					G	68965365	A	G	68965365	3	3	79	1	0	0	0	0	1	0	0	0	12524	101	4	4	1011	4	PREX2	8	68965365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	765094	68965365	77398657	9451	19768											
C8orf34	116328	broad.mit.edu	37	chr8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catccacagccctaccccatCtgtaacagaagaagatattg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000539993.1	+	7	1346	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000337103.4_Missense_Mutation_p.S241Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	266										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(721-723)tCt>tAt		chromosome 8 open reading frame 34							114	112	113					8																	69445334		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69445334C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.797C>A	8.37:g.69445334C>A	ENSP00000438159:p.Ser266Tyr					C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000539993.1_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y	p.S241Y			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		6	2314	+			266					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.722C>A		.	.	.	.	.	.	.	.	.	.	C	12.65	2.001855	0.35320	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54279	0.58;0.62;0.6	5.54	3.76	0.43208	.	0.237331	0.44902	D	0.000405	T	0.62514	0.2434	L	0.60455	1.87	0.34619	D	0.718399	B;D	0.63880	0.156;0.993	B;P	0.59487	0.106;0.858	T	0.71196	-0.4664	9	.	.	.	-3.4848	11.9284	0.52833	0.0:0.8589:0.0:0.1411	.	266;266	Q49A92;Q49A92-3	CH034_HUMAN;.	Y	352;266;266;241	ENSP00000427820:S352Y;ENSP00000438159:S266Y;ENSP00000337174:S241Y	.	S	+	2	0	C8orf34	69607888	1.000000	0.71417	0.949000	0.38748	0.758000	0.43043	5.291000	0.65667	0.721000	0.32231	-0.229000	0.12294	TCT		0.353	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		93	469	1	0	2.608e-42	1	3.17499e-42	93	469					A	69445334	C	A	69445334	3	1	79	1	0	0	0	0	1	0	0	0	2429	913	32	3	744	3	C8orf34	8	69445334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479969	69445334	76918688	9452	19769											
SULF1	23213	broad.mit.edu	37	chr8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggccaggtaccagacaGcctgtgaacaaccggggcag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	453					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTACCAGACAGCCTGTGAACA	0.448																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1357-1359)Gcc>Acc		sulfatase 1							93	92	92					8																	70517147		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70517147G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1357G>A	8.37:g.70517147G>A	ENSP00000260128:p.Ala453Thr					SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR	p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		13	2074	+	Breast(64;0.0654)		453					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1357G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016150	0.75161	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046975	0.85682	D	0.000000	D	0.97297	0.9116	L	0.35723	1.085	0.52099	D	0.999942	P	0.45078	0.85	B	0.42738	0.396	D	0.97297	0.9928	10	0.54805	T	0.06	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	453	Q8IWU6	SULF1_HUMAN	T	453	ENSP00000403040:A453T;ENSP00000260128:A453T;ENSP00000385704:A453T;ENSP00000390315:A453T	ENSP00000260128:A453T	A	+	1	0	SULF1	70679701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.174000	0.71943	2.873000	0.98535	0.561000	0.74099	GCC		0.448	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		71	385	0	0	0	1	0	71	385					A	70517147	G	A	70517147	3	1	79	1	0	0	0	0	1	0	0	0	15422	971	34	2	1391	2	SULF1	8	70517147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1071813	70517147	75846875	9453	19770											
SULF1	23213	broad.mit.edu	37	chr8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctacgctcgcggcttccAtgacaaagacaaagagtgca	9	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	498					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGCGGCTTCCATGACAAAGAC	0.527																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1492-1494)cAt>cCt		sulfatase 1							72	71	71					8																	70533385		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70533385A>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1493A>C	8.37:g.70533385A>C	ENSP00000260128:p.His498Pro					SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR	p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		14	2210	+	Breast(64;0.0654)		498					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1493A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	7.434	0.639363	0.14386	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.95	0.437	0.16555	Alkaline-phosphatase-like, core domain (1);	0.503729	0.24341	N	0.039369	D	0.93864	0.8037	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87386	0.2360	10	0.25751	T	0.34	.	5.2695	0.15617	0.4829:0.263:0.2542:0.0	.	498	Q8IWU6	SULF1_HUMAN	P	498	ENSP00000403040:H498P;ENSP00000260128:H498P;ENSP00000385704:H498P;ENSP00000390315:H498P	ENSP00000260128:H498P	H	+	2	0	SULF1	70695939	0.001000	0.12720	0.733000	0.30861	0.473000	0.32948	0.257000	0.18369	0.478000	0.27488	0.533000	0.62120	CAT		0.527	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		51	233	0	0	0	1	0	51	233					C	70533385	A	C	70533385	3	2	79	1	0	0	0	0	1	0	0	0	15422	217	8	4	1531	4	SULF1	8	70533385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16238	70533385	75830637	9454	19771											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585410	70585410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaataaaaataaacccaacGaatttgaggccggcagccaa	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.4	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2239-2241)ttC>ttT		solute carrier organic anion transporter family, member 5A1							92	96	95					8																	70585410		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585410G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2241C>T	8.37:g.70585410G>A						SLCO5A1_ENST00000530307.1_Silent_p.F692F|SLCO5A1_ENST00000524945.1_3'UTR	p.F747F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2947	-	Breast(64;0.0654)		747					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2241C>T	CCDS6205.1																																																																																				0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		95	437	0	0	0	1	0	95	437					A	70585410	G	A	70585410	2	1	79	1	0	0	0	0	0	0	0	1	14781	1049	37	1		1	SLCO5A1	8	70585410	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52025	70585410	75778612	9455	19772											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagattctctggcaccaAgtttcaatttttttataatg	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.4	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	498						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGCACCAAGTTTCAATTT	0.398																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1492-1494)cTt>cGt		solute carrier organic anion transporter family, member 5A1							89	89	89					8																	70617395		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617395A>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1493T>G	8.37:g.70617395A>C	ENSP00000260126:p.Leu498Arg					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R	p.L498R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2199	-	Breast(64;0.0654)		498					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1493T>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611302	0.87258	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.83275	0.996;0.993;0.98;0.975	T	0.79999	-0.1566	10	0.59425	D	0.04	.	15.9962	0.80250	1.0:0.0:0.0:0.0	.	443;443;498;498	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	R	498;498;443	ENSP00000260126:L498R;ENSP00000434422:L498R;ENSP00000431611:L443R	ENSP00000260126:L498R	L	-	2	0	SLCO5A1	70779949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.253000	0.95501	2.234000	0.73211	0.533000	0.62120	CTT		0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		74	321	0	0	0	1	0	74	321					C	70617395	A	C	70617395	3	2	79	1	0	0	0	0	1	0	0	0	14781	72	3	4	1073	4	SLCO5A1	8	70617395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31985	70617395	75746627	9456	19773											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744219	70744219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccgtcgttgggggcCgaggcgttcaactcttggat	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.S230S|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30	36	34					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744219C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.690G>A	8.37:g.70744219C>T						SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1396	-	Breast(64;0.0654)		230					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.690G>A	CCDS6205.1																																																																																				0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		61	250	0	0	0	1	0	61	250					T	70744219	C	T	70744219	2	4	79	1	0	0	0	0	0	0	0	1	14781	639	23	1		1	SLCO5A1	8	70744219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126824	70744219	75619803	9457	19774											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744328	70744328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggccagccacaggggcCgccgaccccggccgccgaag	14	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.4	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCACAGGGGCCGCCGACCCCG	0.637																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(580-582)cGg>cAg		solute carrier organic anion transporter family, member 5A1							20	26	24					8																	70744328		2202	4298	6500	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744328C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.581G>A	8.37:g.70744328C>T	ENSP00000260126:p.Arg194Gln					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR	p.R194Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1287	-	Breast(64;0.0654)		194					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.581G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545534	0.96488	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100668	0.64402	D	0.000004	T	0.77824	0.4188	M	0.87682	2.9	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	T	0.81132	-0.1072	10	0.66056	D	0.02	.	19.377	0.94514	0.0:1.0:0.0:0.0	.	194;194;194;194	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Q	194	ENSP00000260126:R194Q;ENSP00000434422:R194Q;ENSP00000431611:R194Q	ENSP00000260126:R194Q	R	-	2	0	SLCO5A1	70906882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.586000	0.87340	0.561000	0.74099	CGG		0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		6	271	0	0	0	1	0	6	271					T	70744328	C	T	70744328	3	4	79	1	0	0	0	0	1	0	0	0	14781	652	23	1	2001	1	SLCO5A1	8	70744328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	70744328	75619694	9458	19775											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744437	70744437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttcagactgtagcgccTttcaatggtggtaattacgc	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.4	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTGTAGCGCCTTTCAATGGTG	0.562											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(472-474)Agg>Ggg		solute carrier organic anion transporter family, member 5A1							72	74	73					8																	70744437		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744437T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.472A>G	8.37:g.70744437T>C	ENSP00000260126:p.Arg158Gly		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR	p.R158G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1178	-	Breast(64;0.0654)		158					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.472A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799510	0.70567	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.71	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.101427	0.64402	D	0.000003	T	0.62624	0.2443	M	0.63843	1.955	0.37875	D	0.930193	P;D;P;P	0.55172	0.775;0.97;0.775;0.734	P;P;P;P	0.56563	0.697;0.801;0.601;0.571	T	0.70506	-0.4853	10	0.87932	D	0	.	12.6192	0.56594	0.0:0.0:0.3868:0.6132	.	158;158;158;158	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	G	158	ENSP00000260126:R158G;ENSP00000434422:R158G;ENSP00000431611:R158G	ENSP00000260126:R158G	R	-	1	2	SLCO5A1	70906991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.455000	0.52993	0.950000	0.37743	0.459000	0.35465	AGG		0.562	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		6	264	0	0	0	1	0	6	264					C	70744437	T	C	70744437	3	2	79	1	0	0	0	0	1	0	0	0	14781	1608	56	4	2110	4	SLCO5A1	8	70744437	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	70744437	75619585	9459	19776											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagtccccgagccccGccgaagtggacggggcagag	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.4	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGAGCCCCGCCGAAGTGGA	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(268-270)gCg>gTg		solute carrier organic anion transporter family, member 5A1							50	54	52					8																	70744640		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744640G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.269C>T	8.37:g.70744640G>A	ENSP00000260126:p.Ala90Val		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	p.A90V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	975	-	Breast(64;0.0654)		90					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.269C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244930	0.39697	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44083	1.08;1.44;0.93	4.99	3.15	0.36227	.	1.275500	0.05249	N	0.513614	T	0.32556	0.0833	L	0.29908	0.895	0.30230	N	0.795995	B;B;B;B	0.17268	0.021;0.004;0.004;0.007	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.24225	-1.0166	10	0.33940	T	0.23	.	7.8051	0.29198	0.1945:0.0:0.8055:0.0	.	90;90;90;90	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	90	ENSP00000260126:A90V;ENSP00000434422:A90V;ENSP00000431611:A90V	ENSP00000260126:A90V	A	-	2	0	SLCO5A1	70907194	0.705000	0.27846	0.984000	0.44739	0.814000	0.46013	1.023000	0.30065	1.328000	0.45358	0.555000	0.69702	GCG		0.642	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		56	273	0	0	0	1	0	56	273					A	70744640	G	A	70744640	3	1	79	1	0	0	0	0	1	0	0	0	14781	1087	38	1	2313	1	SLCO5A1	8	70744640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	70744640	75619382	9460	19777											
PRDM14	63978	broad.mit.edu	37	chr8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatttctcatagcagtctCcataccacacaaggagctct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	367	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			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)			ATAGCAGTCTCCATACCACAC	0.512																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				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						c.(1099-1101)gGa>gAa		PR domain containing 14							92	91	92					8																	70978553		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978553C>T	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.1100G>A	8.37:g.70978553C>T	ENSP00000276594:p.Gly367Glu						p.G367E	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1301	-	Breast(64;0.193)		367			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1100G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899578	0.91962	.	.	ENSG00000147596	ENST00000276594	D	0.86627	-2.15	5.62	5.62	0.85841	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.66056	D	0.02	-13.0938	19.6488	0.95793	0.0:1.0:0.0:0.0	.	367	Q9GZV8	PRD14_HUMAN	E	367	ENSP00000276594:G367E	ENSP00000276594:G367E	G	-	2	0	PRDM14	71141107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.481000	0.81124	2.637000	0.89404	0.561000	0.74099	GGA		0.512	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			83	318	0	0	0	1	0	83	318					T	70978553	C	T	70978553	3	4	79	1	0	0	0	0	1	0	0	0	12502	855	30	2	631	2	PRDM14	8	70978553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233913	70978553	75385469	9461	19778											
PRDM14	63978	broad.mit.edu	37	chr8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaattaaagtgtcaggtCcacaacacgggccactctcg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	145					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)			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)			AGTGTCAGGTCCACAACACGG	0.587																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				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						c.(433-435)gGa>gAa		PR domain containing 14							58	54	55					8																	70981662		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981662C>T	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.434G>A	8.37:g.70981662C>T	ENSP00000276594:p.Gly145Glu						p.G145E	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	635	-	Breast(64;0.193)		145					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.434G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457606	0.43634	.	.	ENSG00000147596	ENST00000276594	T	0.10288	2.89	4.91	0.865	0.19074	.	1.039280	0.07551	N	0.915390	T	0.07324	0.0185	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41822	-0.9487	10	0.35671	T	0.21	-1.2174	5.2354	0.15443	0.0:0.4967:0.3205:0.1828	.	145	Q9GZV8	PRD14_HUMAN	E	145	ENSP00000276594:G145E	ENSP00000276594:G145E	G	-	2	0	PRDM14	71144216	0.976000	0.34144	0.001000	0.08648	0.062000	0.15995	-0.100000	0.10990	-0.026000	0.13895	0.563000	0.77884	GGA		0.587	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			40	270	0	0	0	1	0	40	270					T	70981662	C	T	70981662	3	4	79	1	0	0	0	0	1	0	0	0	12502	855	30	2	1309	2	PRDM14	8	70981662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3109	70981662	75382360	9462	19779											
NCOA2	10499	broad.mit.edu	37	chr8	71039253	71039253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggatttccctctgtctCtgggccagcatctgtgcatt	9	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1237					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCTCTGTCTCTGGGCCAGCA	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3709-3711)caG>caA		nuclear receptor coactivator 2							101	88	92					8																	71039253		1930	4141	6071	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71039253C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3711G>A	8.37:g.71039253C>T						NCOA2_ENST00000267974.4_Silent_p.Q325Q	p.Q1237Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		19	3892	-	Breast(64;0.201)		1237					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.3711G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.836999	0.16891	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.97	1.57	0.23409	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56998	-0.7886	4	.	.	.	.	11.6264	0.51147	0.0:0.7114:0.0:0.2886	.	.	.	.	K	338	.	.	R	-	2	0	NCOA2	71201807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.389000	0.25086	0.655000	0.94253	AGA		0.453	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			9	69	0	0	0	1	0	9	69					T	71039253	C	T	71039253	2	4	79	1	0	0	0	0	0	0	0	1	10271	912	32	2		2	NCOA2	8	71039253	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57591	71039253	75324769	9463	19780											
NCOA2	10499	broad.mit.edu	37	chr8	71041048	71041048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacggagtgtggcataActaggccgctgtcccatggt	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1164					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGTGGCATAACTAGGCCGCT	0.552			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3490-3492)agT>agC		nuclear receptor coactivator 2							112	108	109					8																	71041048		1976	4154	6130	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71041048A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3492T>C	8.37:g.71041048A>G						NCOA2_ENST00000267974.4_Silent_p.S252S	p.S1164S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		17	3673	-	Breast(64;0.201)		1164					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.3492T>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119824	0.20877	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.78	-4.55	0.03441	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	.	7.2136	0.25947	0.2704:0.1034:0.5253:0.1009	.	.	.	.	A	265	.	.	V	-	2	0	NCOA2	71203602	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	-0.913000	0.04042	-0.794000	0.04468	-0.408000	0.06270	GTT		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			41	187	0	0	0	1	0	41	187					G	71041048	A	G	71041048	2	3	79	1	0	0	0	0	0	0	0	1	10271	40	2	4		4	NCOA2	8	71041048	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1795	71041048	75322974	9464	19781											
NCOA2	10499	broad.mit.edu	37	chr8	71068359	71068359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcatctttatctagcaaAtagcgaagtagtgcattctc	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	747					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCTAGCAAATAGCGAAGTA	0.438			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2239-2241)taT>taC		nuclear receptor coactivator 2							134	133	133					8																	71068359		1857	4098	5955	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068359A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2241T>C	8.37:g.71068359A>G						NCOA2_ENST00000524223.1_5'UTR	p.Y747Y	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2422	-	Breast(64;0.201)		747					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.2241T>C	CCDS47872.1																																																																																				0.438	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			99	442	0	0	0	1	0	99	442					G	71068359	A	G	71068359	2	3	79	1	0	0	0	0	0	0	0	1	10271	108	4	4		4	NCOA2	8	71068359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27311	71068359	75295663	9465	19782											
NCOA2	10499	broad.mit.edu	37	chr8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgggcagggctgttagaGctaattggattcagtggctt	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	399					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGTTAGAGCTAATTGGAT	0.463			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1195-1197)agC>agA		nuclear receptor coactivator 2							62	61	61					8																	71069403		1946	4151	6097	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069403G>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1197C>A	8.37:g.71069403G>T	ENSP00000399968:p.Ser399Arg						p.S399R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1378	-	Breast(64;0.201)		399					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1197C>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916455	0.17907	.	.	ENSG00000140396	ENST00000452400	T	0.01584	4.75	5.8	4.93	0.64822	.	0.133374	0.64402	D	0.000001	T	0.01800	0.0057	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27887	0.084	T	0.62062	-0.6933	10	0.38643	T	0.18	.	8.3779	0.32453	0.1384:0.1278:0.7338:0.0	.	399	Q15596	NCOA2_HUMAN	R	399	ENSP00000399968:S399R	ENSP00000399968:S399R	S	-	3	2	NCOA2	71231957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.451000	0.47736	0.563000	0.77884	AGC		0.463	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			36	146	1	0	2.42023e-17	1	2.67004e-17	36	146					T	71069403	G	T	71069403	3	4	79	1	0	0	0	0	1	0	0	0	10271	962	34	3	3249	3	NCOA2	8	71069403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044	71069403	75294619	9466	19783											
NCOA2	10499	broad.mit.edu	37	chr8	71082518	71082518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatacacttttgttcatcaGctcttcttggttatacctta	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71082518G>A	ENST00000452400.2	-	6	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	154	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGTTCATCAGCTCTTCTTGG	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(460-462)Ctg>Ttg		nuclear receptor coactivator 2							123	109	114					8																	71082518		1898	4129	6027	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082518G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.460C>T	8.37:g.71082518G>A							p.L154L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	641	-	Breast(64;0.201)		154			PAS.		Q14CD2	Silent	SNP	ENST00000452400.2	37	c.460C>T	CCDS47872.1																																																																																				0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			4	90	0	0	0	1	0	4	90					A	71082518	G	A	71082518	2	1	79	1	0	0	0	0	0	0	0	1	10271	962	34	2		2	NCOA2	8	71082518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	71082518	75281504	9467	19784											
TRAM1	23471	broad.mit.edu	37	chr8	71508556	71508556	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtctgagatgtagttttCctaagaaagaagatataaaa	10	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000262213.2	-	5	596	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K|TRAM1_ENST00000521425.1_Splice_Site_p.E57K	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	143	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGTAGTTTTCCTAAGAAAGA	0.373																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e5-1		translocation associated membrane protein 1							109	108	108					8																	71508556		2203	4300	6503	SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71508556C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.427-1G>A	8.37:g.71508556C>T						TRAM1_ENST00000536748.1_Splice_Site_p.E112_splice|TRAM1_ENST00000262213.2_Splice_Site_p.E143_splice|TRAM1_ENST00000521049.1_Intron	p.E57_splice			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		5	1205	-			143					B4E0K2	Splice_Site	SNP	ENST00000262213.2	37	c.168_splice	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579000	0.96565	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.08	6.08	0.98989	TRAM/LAG1/CLN8 homology domain (3);	0.097717	0.64402	D	0.000001	D	0.93766	0.8007	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91854	0.5494	10	0.33940	T	0.23	-10.4254	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q15629	TRAM1_HUMAN	K	57;143;112	ENSP00000428052:E57K;ENSP00000262213:E143K;ENSP00000439359:E112K	ENSP00000262213:E143K	E	-	1	0	TRAM1	71671110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.909000	0.75735	2.894000	0.99253	0.591000	0.81541	GAA		0.373	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Missense_Mutation	73	313	0	0	0	1	0	73	313					T	71508556	C	T	71508556	5	4	79	1	0	0	0	0	0	0	1	0	16504	869	30	2	725	2	TRAM1	8	71508556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426038	71508556	74855466	9468	19785											
LACTB2	51110	broad.mit.edu	37	chr8	71553220	71553220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaagaatttgctgctctcGaatatttctgtgagaaatgt	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71553220G>A	ENST00000276590.4	-	5	694	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	220						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R220*(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTGCTCTCGAATATTTCTG	0.294																																						ENST00000276590.4																			1	Substitution - Nonsense(1)	p.R220*(1)	endometrium(1)	endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10						c.(658-660)Cga>Tga		lactamase, beta 2							39	40	40					8																	71553220		2201	4285	6486	SO:0001587	stop_gained	51110						hydrolase activity|metal ion binding	g.chr8:71553220G>A	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.658C>T	8.37:g.71553220G>A	ENSP00000276590:p.Arg220*					LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	p.R220*	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	694	-	Breast(64;0.0716)		220					A8K2D6|Q9Y392	Nonsense_Mutation	SNP	ENST00000276590.4	37	c.658C>T	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373569	0.82573	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	.	.	.	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0669	14.9984	0.71451	0.0684:0.0:0.9316:0.0	.	.	.	.	X	220	.	ENSP00000276590:R220X	R	-	1	2	LACTB2	71715774	1.000000	0.71417	0.890000	0.34922	0.704000	0.40688	6.100000	0.71473	1.448000	0.47680	-0.169000	0.13324	CGA		0.294	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		27	131	0	0	0	1	0	27	131					A	71553220	G	A	71553220	4	1	79	1	0	0	0	0	0	1	0	0	8629	1066	37	1	220	1	LACTB2	8	71553220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44664	71553220	74810802	9469	19786											
XKR9	389668	broad.mit.edu	37	chr8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttctggagcatggacaAgcgaatttcagtcagtgtaa	10	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGCATGGACAAGCGAATTTCA	0.398																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(475-477)caA>caC		XK, Kell blood group complex subunit-related family, member 9							135	124	128					8																	71619372		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71619372A>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.477A>C	8.37:g.71619372A>C	ENSP00000386141:p.Gln159His					XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H	p.Q159H	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	1011	+	Breast(64;0.0716)		159					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.477A>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566116	0.13560	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64803	-0.12;-0.12	5.03	2.7	0.31948	.	0.643829	0.15516	N	0.258289	T	0.48352	0.1495	L	0.53249	1.67	0.09310	N	1	P	0.38223	0.623	B	0.36186	0.219	T	0.45440	-0.9261	10	0.39692	T	0.17	-0.0441	0.6152	0.00768	0.4631:0.1745:0.1943:0.1681	.	159	Q5GH70	XKR9_HUMAN	H	159	ENSP00000386141:Q159H;ENSP00000431088:Q159H	ENSP00000386141:Q159H	Q	+	3	2	XKR9	71781926	0.009000	0.17119	0.011000	0.14972	0.479000	0.33129	0.593000	0.23999	0.781000	0.33589	0.460000	0.39030	CAA		0.398	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		15	402	0	0	0	1	0	15	402					C	71619372	A	C	71619372	3	2	79	1	0	0	0	0	1	0	0	0	17492	69	3	4	483	4	XKR9	8	71619372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66152	71619372	74744650	9470	19787											
XKR9	389668	broad.mit.edu	37	chr8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagttttgtacttgtataaGtatggaattcttatatagga	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	258						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACTTGTATAAGTATGGAATTC	0.274																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(772-774)aGt>aTt		XK, Kell blood group complex subunit-related family, member 9							114	113	113					8																	71646310		2201	4297	6498	SO:0001583	missense	389668					integral to membrane		g.chr8:71646310G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.773G>T	8.37:g.71646310G>T	ENSP00000386141:p.Ser258Ile					XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S258I	p.S258I	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1307	+	Breast(64;0.0716)		258					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.773G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064419	0.08388	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	4.09	0.47781	.	1.137670	0.06108	N	0.666720	T	0.58652	0.2137	L	0.55481	1.735	0.09310	N	1	P	0.38395	0.629	B	0.41619	0.361	T	0.46748	-0.9169	10	0.21540	T	0.41	0.5492	4.7866	0.13227	0.086:0.1521:0.6048:0.1571	.	258	Q5GH70	XKR9_HUMAN	I	258	ENSP00000386141:S258I;ENSP00000431088:S258I	ENSP00000386141:S258I	S	+	2	0	XKR9	71808864	0.993000	0.37304	0.556000	0.28293	0.194000	0.23727	2.704000	0.47118	1.268000	0.44264	0.563000	0.77884	AGT		0.274	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		42	187	1	0	9.9191e-30	1	1.16027e-29	42	187					T	71646310	G	T	71646310	3	4	79	1	0	0	0	0	1	0	0	0	17492	1029	36	3	783	3	XKR9	8	71646310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26938	71646310	74717712	9471	19788											
XKR9	389668	broad.mit.edu	37	chr8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttcttactcttcttcttgGaattctttttcttattgttt	4	7	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	332						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCTTCTTGGAATTCTTTTT	0.333																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(994-996)gGa>gTa		XK, Kell blood group complex subunit-related family, member 9							56	58	57					8																	71646532		2203	4297	6500	SO:0001583	missense	389668					integral to membrane		g.chr8:71646532G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.995G>T	8.37:g.71646532G>T	ENSP00000386141:p.Gly332Val					XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G332V	p.G332V	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1529	+	Breast(64;0.0716)		332					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.995G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034078	0.75504	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.78816	-1.21;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91059	0.4884	10	0.87932	D	0	-12.7087	18.4549	0.90717	0.0:0.0:1.0:0.0	.	332	Q5GH70	XKR9_HUMAN	V	332	ENSP00000386141:G332V;ENSP00000431088:G332V	ENSP00000386141:G332V	G	+	2	0	XKR9	71809086	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.920000	0.75799	2.592000	0.87571	0.557000	0.71058	GGA		0.333	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		14	87	1	0	0.000151284	1	0.000153739	14	87					T	71646532	G	T	71646532	3	4	79	1	0	0	0	0	1	0	0	0	17492	1174	41	3	1005	3	XKR9	8	71646532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	71646532	74717490	9472	19789											
EYA1	2138	broad.mit.edu	37	chr8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagatctcttttacccGtctgtagcggaaggccaact	10	10	2	1	rs376931849		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	440			R -> Q (in BOR1). {ECO:0000269|PubMed:10464653, ECO:0000269|PubMed:21280147}.		anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1318-1320)Cgg>Tgg		eyes absent homolog 1 (Drosophila)		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	196	171	179		1318,1318,1213,1219	4.5	1	8		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	101,101,101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	440/593,440/593,405/558,407/560	72128969	2,13004	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72128969G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1318C>T	8.37:g.72128969G>A	ENSP00000342626:p.Arg440Trp					EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W	p.R440W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		14	1957	-	Breast(64;0.046)		440		R -> Q (in BOR1).			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1318C>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916777	0.73098	0.0	2.33E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.44	4.53	0.55603	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.967;0.988;0.991;0.967;0.992	D	0.91073	0.4894	10	0.87932	D	0	-12.6378	13.5438	0.61690	0.0:0.0:0.7247:0.2753	.	434;367;407;440;405	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	440;440;408;407;434;406;439;405	ENSP00000373394:R440W;ENSP00000342626:R440W;ENSP00000373392:R407W;ENSP00000303221:R434W;ENSP00000373393:R406W;ENSP00000373395:R439W;ENSP00000410176:R405W	ENSP00000303221:R434W	R	-	1	2	EYA1	72291523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.832000	0.97577	0.655000	0.94253	CGG		0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		102	393	0	0	0	1	0	102	393					A	72128969	G	A	72128969	3	1	79	1	0	0	0	0	1	0	0	0	5346	1144	40	1	480	1	EYA1	8	72128969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482437	72128969	74235053	9473	19790											
EYA1	2138	broad.mit.edu	37	chr8	72184056	72184056	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggccccgtccacgtgatttCccatctgaacctcgacgcaa	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388743.2_Silent_p.G300G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	301					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(901-903)ggG>ggA		eyes absent homolog 1 (Drosophila)							251	231	237					8																	72184056		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184056C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.903G>A	8.37:g.72184056C>T						EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388740.3_Silent_p.G268G	p.G301G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1542	-	Breast(64;0.046)		301					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.903G>A	CCDS34906.1																																																																																				0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		175	795	0	0	0	1	0	175	795					T	72184056	C	T	72184056	2	4	79	1	0	0	0	0	0	0	0	1	5346	842	30	2		2	EYA1	8	72184056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55087	72184056	74179966	9474	19791											
EYA1	2138	broad.mit.edu	37	chr8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctcgacgcaatcgatcaGaatctgaatctttaatgggt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	292					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(874-876)tCt>tAt		eyes absent homolog 1 (Drosophila)							263	246	252					8																	72184084		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184084G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.875C>A	8.37:g.72184084G>T	ENSP00000342626:p.Ser292Tyr					EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y	p.S292Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1514	-	Breast(64;0.046)		292					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.875C>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891954	0.91889	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.7	5.7	0.88788	.	0.127359	0.56097	D	0.000031	D	0.86451	0.5936	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.995	D;D;P;D;P	0.75020	0.937;0.985;0.905;0.937;0.834	T	0.80948	-0.1154	10	0.09590	T	0.72	-6.9874	19.8344	0.96650	0.0:0.0:1.0:0.0	.	286;219;259;292;287	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	292;292;260;259;286;258;291;287	ENSP00000373394:S292Y;ENSP00000342626:S292Y;ENSP00000373392:S259Y;ENSP00000303221:S286Y;ENSP00000373393:S258Y;ENSP00000373395:S291Y;ENSP00000410176:S287Y	ENSP00000303221:S286Y	S	-	2	0	EYA1	72346638	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	9.272000	0.95707	2.696000	0.92011	0.561000	0.74099	TCT		0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		214	989	1	0	1.52386e-66	1	1.92882e-66	214	989					T	72184084	G	T	72184084	3	4	79	1	0	0	0	0	1	0	0	0	5346	942	33	3	939	3	EYA1	8	72184084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	72184084	74179938	9475	19792											
MSC	9242	broad.mit.edu	37	chr8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgagaccacgaatggCcatgtctgtaaatcaaaaag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	180					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(538-540)tgG>tgT		musculin							228	228	228					8																	72754977		1932	4132	6064	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754977C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.540G>T	8.37:g.72754977C>A	ENSP00000321445:p.Trp180Cys					MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.W180C	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	829	-	Breast(64;0.176)		180					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.540G>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598965	0.87055	.	.	ENSG00000178860	ENST00000325509	D	0.87887	-2.31	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92801	0.6256	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	180	O60682	MUSC_HUMAN	C	180	ENSP00000321445:W180C	ENSP00000321445:W180C	W	-	3	0	MSC	72917531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.137000	0.77295	2.559000	0.86315	0.462000	0.41574	TGG		0.473	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		76	1344	1	0	1.81118e-26	1	2.08805e-26	76	1344					A	72754977	C	A	72754977	3	1	79	1	0	0	0	0	1	0	0	0	9909	740	26	3	84	3	MSC	8	72754977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570893	72754977	73609045	9476	19793											
MSC	9242	broad.mit.edu	37	chr8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcccctaccaggttcaCtgggtgcacgtagccgttct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	176					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(526-528)Gtg>Atg		musculin							32	35	34					8																	72755888		2188	4292	6480	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72755888C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.526G>A	8.37:g.72755888C>T	ENSP00000321445:p.Val176Met		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H	p.V176M	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	815	-	Breast(64;0.176)		176					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.526G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997270	0.93167	.	.	ENSG00000178860	ENST00000325509	D	0.88046	-2.33	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (1);	0.060231	0.64402	D	0.000003	D	0.91855	0.7422	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92441	0.5962	10	0.62326	D	0.03	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	176	O60682	MUSC_HUMAN	M	176	ENSP00000321445:V176M	ENSP00000321445:V176M	V	-	1	0	MSC	72918442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	GTG		0.657	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		54	284	0	0	0	1	0	54	284					T	72755888	C	T	72755888	3	4	79	1	0	0	0	0	1	0	0	0	9909	565	20	2	102	2	MSC	8	72755888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	911	72755888	73608134	9477	19794											
MSC	9242	broad.mit.edu	37	chr8	72756150	72756150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcttcttgccaccaccGcccgcgctaccacctgcgcc	10	20	1	0	rs376704804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	ENST00000325509.4	-	1	553	c.264C>T	c.(262-264)ggC>ggT	p.G88G	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	88	Gly-rich.|Poly-Gly.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCCACCACCGCCCGCGCTAC	0.741											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(262-264)ggC>ggT		musculin							4	6	6					8																	72756150		2072	4131	6203	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756150G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.264C>T	8.37:g.72756150G>A			OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.G88G	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	553	-	Breast(64;0.176)		88			Gly-rich.|Poly-Gly.		O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.264C>T	CCDS43746.1																																																																																				0.741	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		12	66	0	0	0	1	0	12	66					A	72756150	G	A	72756150	2	1	79	1	0	0	0	0	0	0	0	1	9909	1074	38	1		1	MSC	8	72756150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	72756150	73607872	9478	19795											
TRPA1	8989	broad.mit.edu	37	chr8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttggaaaatttgccccGcttctttgcaatacccaaat	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	789					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A789V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274																																						ENST00000262209.4																			1	Substitution - Missense(1)	p.A789V(1)	stomach(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2365-2367)gCg>gTg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						34	36	35					8																	72950237		2196	4279	6475	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72950237G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2366C>T	8.37:g.72950237G>A	ENSP00000262209:p.Ala789Val					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	p.A789V	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2573	-			789					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2366C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002122	0.02128	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77358	-1.09;-1.09	5.58	4.36	0.52297	Ion transport (1);	0.669343	0.15878	N	0.240178	T	0.42314	0.1197	N	0.00656	-1.285	0.26743	N	0.970347	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.06891	T	0.86	-11.0883	7.9719	0.30132	0.8368:0.0:0.1632:0.0	.	789	O75762	TRPA1_HUMAN	V	641;789	ENSP00000428151:A641V;ENSP00000262209:A789V	ENSP00000262209:A789V	A	-	2	0	TRPA1	73112791	0.855000	0.29742	0.961000	0.40146	0.539000	0.34962	3.072000	0.50049	0.938000	0.37419	-0.290000	0.09829	GCG		0.274	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	72	0	0	0	1	0	7	72					A	72950237	G	A	72950237	3	1	79	1	0	0	0	0	1	0	0	0	16630	1087	38	1	1025	1	TRPA1	8	72950237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194087	72950237	73413785	9479	19796											
KCNB2	9312	broad.mit.edu	37	chr8	73480440	73480440	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaactgaggcgagaggcagaGactatgcgagagcgagaagg	18	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	157					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGAGGCAGAGACTATGCGAG	0.458																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(469-471)gaG>gaA		potassium voltage-gated channel, Shab-related subfamily, member 2							136	143	140					8																	73480440		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480440G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.471G>A	8.37:g.73480440G>A							p.E157E	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1059	+	Breast(64;0.137)		157					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.471G>A	CCDS6209.1																																																																																				0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		125	652	0	0	0	1	0	125	652					A	73480440	G	A	73480440	2	1	79	1	0	0	0	0	0	0	0	1	8043	933	33	2		2	KCNB2	8	73480440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530203	73480440	72883582	9480	19797											
KCNB2	9312	broad.mit.edu	37	chr8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgggcttgttgatattgtTtctggccatggggataatga	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	341					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTGATATTGTTTCTGGCCATG	0.468																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1021-1023)tTt>tGt		potassium voltage-gated channel, Shab-related subfamily, member 2							112	114	113					8																	73848612		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848612T>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1022T>G	8.37:g.73848612T>G	ENSP00000430846:p.Phe341Cys						p.F341C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1610	+	Breast(64;0.137)		341					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1022T>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482737	0.84747	.	.	ENSG00000182674	ENST00000523207	D	0.98914	-5.23	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.99202	0.9723	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	341	Q92953	KCNB2_HUMAN	C	341	ENSP00000430846:F341C	ENSP00000430846:F341C	F	+	2	0	KCNB2	74011166	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TTT		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		140	689	0	0	0	1	0	140	689					G	73848612	T	G	73848612	3	3	79	1	0	0	0	0	1	0	0	0	8043	1841	64	4	1028	4	KCNB2	8	73848612	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	368172	73848612	72515410	9481	19798											
KCNB2	9312	broad.mit.edu	37	chr8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttattgcccttcctatcCcaattattgtgaacaatttt	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	414					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCTTCCTATCCCAATTATTGT	0.443																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1240-1242)Cca>Tca		potassium voltage-gated channel, Shab-related subfamily, member 2							74	76	75					8																	73848830		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848830C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1240C>T	8.37:g.73848830C>T	ENSP00000430846:p.Pro414Ser						p.P414S	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1828	+	Breast(64;0.137)		414					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1240C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016589	0.75161	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.45126	D	0.000385	D	0.98741	0.9577	M	0.67397	2.05	0.80722	D	1	D	0.59767	0.986	D	0.68943	0.961	D	0.99865	1.1088	10	0.87932	D	0	.	19.91	0.97023	0.0:1.0:0.0:0.0	.	414	Q92953	KCNB2_HUMAN	S	414	ENSP00000430846:P414S	ENSP00000430846:P414S	P	+	1	0	KCNB2	74011384	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		80	327	0	0	0	1	0	80	327					T	73848830	C	T	73848830	3	4	79	1	0	0	0	0	1	0	0	0	8043	623	22	2	1246	2	KCNB2	8	73848830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	73848830	72515192	9482	19799											
C8orf84	157869	broad.mit.edu	37	chr8	74005092	74005092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctgaccacccacctgGgcacgccctgtcgtagtcga	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74005092G>T	ENST00000297354.6	-	1	415	c.211C>A	c.(211-213)Cca>Aca	p.P71T	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	71	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CACCCACCTGGGCACGCCCTG	0.687																																						ENST00000297354.6																			0											c.(211-213)Cca>Aca		somatomedin B and thrombospondin, type 1 domain containing							19	28	25					8																	74005092		1980	4148	6128	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:74005092G>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.211C>A	8.37:g.74005092G>T	ENSP00000297354:p.Pro71Thr					SBSPON_ENST00000519697.1_Intron	p.P71T	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			1	415	-			71			SMB.		A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.211C>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790440	0.90367	.	.	ENSG00000164764	ENST00000297354	T	0.34275	1.37	5.15	5.15	0.70609	Somatomedin B domain (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.70903	2.155	0.80722	D	1	D	0.59767	0.986	P	0.53035	0.716	T	0.56505	-0.7968	10	0.54805	T	0.06	.	17.4542	0.87602	0.0:0.0:1.0:0.0	.	71	Q8IVN8	RPESP_HUMAN	T	71	ENSP00000297354:P71T	ENSP00000297354:P71T	P	-	1	0	C8orf84	74167646	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.030000	0.88816	2.388000	0.81334	0.558000	0.71614	CCA		0.687	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		29	135	1	0	9.80776e-20	1	1.0954e-19	29	135					T	74005092	G	T	74005092	3	4	79	1	0	0	0	0	1	0	0	0	2447	1232	43	3	603	3	C8orf84	8	74005092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156262	74005092	72358930	9483	19800											
RDH10	157506	broad.mit.edu	37	chr8	74209428	74209428	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacttctgaggacaGctgggaatggtgaggaagaa	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000240285.5	+	2	967		c.e2-1		RPL7_ENST00000396466.1_5'Flank|RPL7_ENST00000396465.1_5'Flank|RDH10_ENST00000519380.1_De_novo_Start_OutOfFrame|RP11-434I12.2_ENST00000520894.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)						bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478																																						ENST00000519380.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11								retinol dehydrogenase 10 (all-trans)							73	64	67					8																	74209428		2203	4300	6503	SO:0001630	splice_region_variant	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74209428G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.290-1G>A	8.37:g.74209428G>A						RDH10_ENST00000240285.5_Splice_Site				Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		0	178	+	Breast(64;0.0954)								Translation_Start_Site	SNP	ENST00000240285.5	37		CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638496	0.67130	.	.	ENSG00000121039	ENST00000240285	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RDH10	74371982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.337000	0.72958	2.780000	0.95670	0.655000	0.94253	.		0.478	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1		Intron	33	129	0	0	0	1	0	33	129					A	74209428	G	A	74209428	5	1	79	1	0	0	0	0	0	0	1	0	13239	985	34	2	295	2	RDH10	8	74209428	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204336	74209428	72154594	9484	19801											
RDH10	157506	broad.mit.edu	37	chr8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggaaagaaattgagcCttttctgccacctctgaagc	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	262					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(784-786)cCt>cAt		retinol dehydrogenase 10 (all-trans)							65	63	63					8																	74234928		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74234928C>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.785C>A	8.37:g.74234928C>A	ENSP00000240285:p.Pro262His					RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.P262H	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1463	+	Breast(64;0.0954)		262						Missense_Mutation	SNP	ENST00000240285.5	37	c.785C>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674208	0.47781	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.91068	-2.78;0.41	5.25	4.38	0.52667	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	N	0.11560	0.145	0.58432	D	0.999994	D	0.58970	0.984	P	0.49922	0.626	T	0.81863	-0.0737	10	0.14656	T	0.56	.	14.4028	0.67060	0.0:0.929:0.0:0.071	.	262	Q8IZV5	RDH10_HUMAN	H	262;97	ENSP00000240285:P262H;ENSP00000428132:P97H	ENSP00000240285:P262H	P	+	2	0	RDH10	74397482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.854000	0.55949	1.589000	0.49982	0.591000	0.81541	CCT		0.398	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			51	281	1	0	1.32667e-27	1	1.53764e-27	51	281					A	74234928	C	A	74234928	3	1	79	1	0	0	0	0	1	0	0	0	13239	681	24	3	803	3	RDH10	8	74234928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25500	74234928	72129094	9485	19802											
RDH10	157506	broad.mit.edu	37	chr8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcctcactgaccagcCcatgatctgcactccccgcc	7	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	285					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(853-855)cCc>cTc		retinol dehydrogenase 10 (all-trans)							110	98	102					8																	74234997		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74234997C>T	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.854C>T	8.37:g.74234997C>T	ENSP00000240285:p.Pro285Leu					RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.P285L	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1532	+	Breast(64;0.0954)		285						Missense_Mutation	SNP	ENST00000240285.5	37	c.854C>T	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790810	0.50102	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88354	-2.37;0.77	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.051646	0.85682	D	0.000000	D	0.89022	0.6597	L	0.45285	1.41	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	D	0.87264	0.2281	10	0.28530	T	0.3	.	14.653	0.68811	0.0:0.9306:0.0:0.0694	.	285	Q8IZV5	RDH10_HUMAN	L	285;120	ENSP00000240285:P285L;ENSP00000428132:P120L	ENSP00000240285:P285L	P	+	2	0	RDH10	74397551	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.411000	0.44600	1.589000	0.49982	0.591000	0.81541	CCC		0.517	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			64	330	0	0	0	1	0	64	330					T	74234997	C	T	74234997	3	4	79	1	0	0	0	0	1	0	0	0	13239	623	22	2	872	2	RDH10	8	74234997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	74234997	72129025	9486	19803											
TCEB1	6921	broad.mit.edu	37	chr8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcattggtttcgttctcaGcaaactgacctgtaaaacaa	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000522337.1	-	5	477	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	53					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(157-159)gCt>gTt		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							66	56	59					8																	74859046		2203	4300	6503	SO:0001583	missense	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74859046G>A	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.158C>T	8.37:g.74859046G>A	ENSP00000429906:p.Ala53Val					TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000522337.1_Missense_Mutation_p.A53V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V	p.A53V	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	250	-	Breast(64;0.0311)		53					E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	c.158C>T	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094949	0.56075	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.137510	0.31188	N	0.008081	T	0.44953	0.1318	L	0.53671	1.685	0.80722	D	1	B	0.15473	0.013	B	0.24848	0.056	T	0.38436	-0.9661	10	0.54805	T	0.06	-3.8739	18.7873	0.91960	0.0:0.0:1.0:0.0	.	53	Q15369	ELOC_HUMAN	V	53;37;53;53;53;53;53;53	ENSP00000428334:A53V;ENSP00000430224:A37V;ENSP00000428171:A53V;ENSP00000429596:A53V;ENSP00000284811:A53V;ENSP00000429906:A53V;ENSP00000428074:A53V;ENSP00000429789:A53V	ENSP00000284811:A53V	A	-	2	0	TCEB1	75021600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.769000	0.91742	2.669000	0.90835	0.591000	0.81541	GCT		0.373	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		26	167	0	0	0	1	0	26	167					A	74859046	G	A	74859046	3	1	79	1	0	0	0	0	1	0	0	0	15731	971	34	2	184	2	TCEB1	8	74859046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624049	74859046	71504976	9487	19804											
LY96	23643	broad.mit.edu	37	chr8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagggagagatttaaaGcaattatatttcaatctcta	6	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000284818.2	+	3	307	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_ENST00000518893.1_Missense_Mutation_p.K42N	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	72					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(214-216)aaG>aaT		lymphocyte antigen 96							68	70	69					8																	74922249		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922249G>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.216G>T	8.37:g.74922249G>T	ENSP00000284818:p.Lys72Asn					LY96_ENST00000518893.1_Missense_Mutation_p.K42N	p.K72N	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	307	+	Breast(64;0.0311)		72					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.216G>T	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911873	0.17907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.42900	0.96;0.96	4.77	-0.413	0.12363	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.986339	0.08275	N	0.970796	T	0.30665	0.0772	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.37934	-0.9684	10	0.54805	T	0.06	.	0.6474	0.00821	0.4632:0.1717:0.1992:0.1658	.	72	Q9Y6Y9	LY96_HUMAN	N	72;42	ENSP00000284818:K72N;ENSP00000430533:K42N	ENSP00000284818:K72N	K	+	3	2	LY96	75084803	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.072000	0.11486	-0.141000	0.11374	-0.469000	0.05056	AAG		0.318	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		48	236	1	0	1.00776e-21	1	1.13667e-21	48	236					T	74922249	G	T	74922249	3	4	79	1	0	0	0	0	1	0	0	0	9141	962	34	3	226	3	LY96	8	74922249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63203	74922249	71441773	9488	19805											
JPH1	56704	broad.mit.edu	37	chr8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccctccggaagaggCcgcccttcttcttgcccgct	12	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	210					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(628-630)gGc>gAc		junctophilin 1							50	55	53					8																	75227606		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227606C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.629G>A	8.37:g.75227606C>T	ENSP00000344488:p.Gly210Asp						p.G210D	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	669	-	Breast(64;0.00576)		210					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.629G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315710	0.81469	.	.	ENSG00000104369	ENST00000342232	T	0.59772	0.24	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81850	-0.0743	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	210	Q9HDC5	JPH1_HUMAN	D	210	ENSP00000344488:G210D	ENSP00000344488:G210D	G	-	2	0	JPH1	75390161	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.285000	0.78660	2.377000	0.81083	0.655000	0.94253	GGC		0.657	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			95	476	0	0	0	1	0	95	476					T	75227606	C	T	75227606	3	4	79	1	0	0	0	0	1	0	0	0	7990	739	26	2	1372	2	JPH1	8	75227606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305357	75227606	71136416	9489	19806											
GDAP1	54332	broad.mit.edu	37	chr8	75276322	75276322	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcctggggtttgcaaggaGaaactggggaaacggaaagc	16	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75276322G>T	ENST00000220822.7	+	6	877	c.797G>T	c.(796-798)aGa>aTa	p.R266I	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	266	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCAAGGAGAAACTGGGGA	0.478																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(796-798)aGa>aTa		ganglioside induced differentiation associated protein 1							88	86	87					8																	75276322		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75276322G>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.797G>T	8.37:g.75276322G>T	ENSP00000220822:p.Arg266Ile					GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	p.R266I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	877	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	266			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.797G>T	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083547	0.76642	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.97688	-4.49;-4.49	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.70842	2.15	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.98190	1.0462	10	0.39692	T	0.17	-12.6828	18.8301	0.92135	0.0:0.0:1.0:0.0	.	266	Q8TB36	GDAP1_HUMAN	I	266;198	ENSP00000220822:R266I;ENSP00000417006:R198I	ENSP00000220822:R266I	R	+	2	0	GDAP1	75438877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.767000	0.95098	0.655000	0.94253	AGA		0.478	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		8	404	1	0	0.000157383	1	0.000159814	8	404					T	75276322	G	T	75276322	3	4	79	1	0	0	0	0	1	0	0	0	6335	942	33	3	819	3	GDAP1	8	75276322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	75276322	71087700	9490	19807											
PI15	51050	broad.mit.edu	37	chr8	75756308	75756308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttactgagatttttgggCcaaaatctatctgtacgcac	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	122	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATTTTTGGGCCAAAATCTAT	0.438																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(364-366)ggC>ggT		peptidase inhibitor 15							161	158	159					8																	75756308		2203	4300	6503	SO:0001819	synonymous_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75756308C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.366C>T	8.37:g.75756308C>T						PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	p.G122G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		3	545	+	Breast(64;0.137)		122					Q68CY1	Silent	SNP	ENST00000260113.2	37	c.366C>T	CCDS6218.1																																																																																				0.438	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		146	807	0	0	0	1	0	146	807					T	75756308	C	T	75756308	2	4	79	1	0	0	0	0	0	0	0	1	11910	726	26	2		2	PI15	8	75756308	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479986	75756308	70607714	9491	19808											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898234	75898234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcattatgaagtgtacCgcgcgggagtggctcagagt	13	8	3	2	rs182949422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	4					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17097	0.001		0.0	False		,,,				2504	0.0					ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(10-12)acC>acT		cysteine-rich secretory protein LCCL domain containing 1							146	158	154					8																	75898234		2203	4300	6503	SO:0001819	synonymous_variant	83690					extracellular region		g.chr8:75898234C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.12C>T	8.37:g.75898234C>T						CRISPLD1_ENST00000519798.1_3'UTR	p.T4T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		2	480	+	Breast(64;0.0799)		4					B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	c.12C>T	CCDS6219.1																																																																																				0.463	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		189	869	0	0	0	1	0	189	869					T	75898234	C	T	75898234	2	4	79	1	0	0	0	0	0	0	0	1	3891	639	23	1		1	CRISPLD1	8	75898234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141926	75898234	70465788	9492	19809											
HNF4G	3174	broad.mit.edu	37	chr8	76452232	76452232	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaatactggacatggAcatggcaaattacagtgaag	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76452232A>G	ENST00000354370.1	+	3	247				HNF4G_ENST00000396423.2_Missense_Mutation_p.D2G			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTGGACATGGACATGGCAAAT	0.393																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4-6)gAc>gGc		hepatocyte nuclear factor 4, gamma							140	138	139					8																	76452232		1920	4138	6058	SO:0001627	intron_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76452232A>G		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.-23-3814A>G	8.37:g.76452232A>G						HNF4G_ENST00000354370.1_Intron	p.D2G	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		1	129	+	Breast(64;0.0448)		0					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.5A>G		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655835	0.47467	.	.	ENSG00000164749	ENST00000396423	D	0.93189	-3.18	4.71	3.53	0.40419	.	0.000000	0.26594	U	0.023518	D	0.90710	0.7085	L	0.55990	1.75	0.40441	D	0.980048	B	0.30281	0.275	B	0.30716	0.119	D	0.89171	0.3537	10	0.87932	D	0	.	11.9732	0.53075	0.8552:0.1448:0.0:0.0	.	2	F1D8Q4	.	G	2	ENSP00000379701:D2G	ENSP00000379701:D2G	D	+	2	0	HNF4G	76614787	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	6.507000	0.73717	0.886000	0.36113	0.482000	0.46254	GAC		0.393	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		94	440	0	0	0	1	0	94	440					G	76452232	A	G	76452232	1	3	79	0	1	0	0	0	0	0	0	0	7284	275	10	4		4	HNF4G	8	76452232	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553998	76452232	69911790	9493	19810											
HNF4G	3174	broad.mit.edu	37	chr8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatctatgaaacagcagCtcttagtcttggtggaatgg	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000354370.1	+	6	709	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	HNF4G_ENST00000396423.2_Missense_Mutation_p.L184I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	147					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAACAGCAGCTCTTAGTCTT	0.358																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(550-552)Ctc>Atc		hepatocyte nuclear factor 4, gamma							122	114	117					8																	76465367		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76465367C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.439C>A	8.37:g.76465367C>A	ENSP00000346339:p.Leu147Ile					HNF4G_ENST00000354370.1_Missense_Mutation_p.L147I	p.L184I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	674	+	Breast(64;0.0448)		147					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.550C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.182110	0.94885	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97404	-4.37;-4.37	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121290	0.56097	D	0.000027	D	0.98682	0.9558	M	0.89287	3.02	0.80722	D	1	P;D	0.59357	0.883;0.985	D;D	0.75020	0.949;0.985	D	0.99035	1.0822	9	.	.	.	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	184;147	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	147;184	ENSP00000346339:L147I;ENSP00000379701:L184I	.	L	+	1	0	HNF4G	76627922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	2.805000	0.96524	0.655000	0.94253	CTC		0.358	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		70	323	1	0	7.07328e-35	1	8.4269e-35	70	323					A	76465367	C	A	76465367	3	1	79	1	0	0	0	0	1	0	0	0	7284	797	28	3	568	3	HNF4G	8	76465367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13135	76465367	69898655	9494	19811											
ZFHX4	79776	broad.mit.edu	37	chr8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacatggaacaccactgccCtaatgcccgccttcctgtcc	6	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACTGCCCTAATGCCCGC	0.498										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(301-303)cCt>cAt		zinc finger homeobox 4							184	179	180					8																	77616625		2041	4183	6224	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616625C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.302C>A	8.37:g.77616625C>A	ENSP00000430497:p.Pro101His	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H	p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	750	+			101					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.302C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.43	5.43	0.79202	.	0.000000	0.44285	U	0.000473	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.57797	-0.7749	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	101;101;101;101	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	101	ENSP00000430497:P101H;ENSP00000399605:P101H;ENSP00000050961:P101H;ENSP00000428525:P101H;ENSP00000429495:P101H;ENSP00000427775:P101H;ENSP00000427739:P101H;ENSP00000430848:P101H	ENSP00000050961:P101H	P	+	2	0	ZFHX4	77779180	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CCT		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		147	678	1	0	2.7625e-60	1	3.47358e-60	147	678					A	77616625	C	A	77616625	3	1	79	1	0	0	0	0	1	0	0	0	17688	681	24	3	304	3	ZFHX4	8	77616625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151258	77616625	68747397	9495	19812											
ZFHX4	79776	broad.mit.edu	37	chr8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcactacaaatatcagcaGaccctggaggcccatatgaa	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATATCAGCAGACCCTGGAGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1969-1971)caG>caT		zinc finger homeobox 4							63	66	65					8																	77618294		1961	4167	6128	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618294G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1971G>T	8.37:g.77618294G>T	ENSP00000430497:p.Gln657His	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2419	+			657					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1971G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320144	0.23994	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.63;0.64;0.61;0.6	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.42294	U	0.000722	T	0.70937	0.3281	L	0.58302	1.8	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.86	D;D;D;P	0.85130	0.993;0.997;0.997;0.8	T	0.72620	-0.4238	10	0.87932	D	0	.	19.15	0.93483	0.0:0.0:1.0:0.0	.	657;657;657;657	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	657	ENSP00000430497:Q657H;ENSP00000399605:Q657H;ENSP00000050961:Q657H;ENSP00000430848:Q657H	ENSP00000050961:Q657H	Q	+	3	2	ZFHX4	77780849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.482000	0.66833	2.750000	0.94351	0.655000	0.94253	CAG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	232	1	0	5.18039e-06	1	5.32547e-06	7	232					T	77618294	G	T	77618294	3	4	79	1	0	0	0	0	1	0	0	0	17688	933	33	3	1973	3	ZFHX4	8	77618294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1669	77618294	68745728	9496	19813											
ZFHX4	79776	broad.mit.edu	37	chr8	77618747	77618747	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcagatccagcataaTctgcacttgggcctcgcccc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000455469.2_Silent_p.N808N|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGCATAATCTGCACTTGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2422-2424)aaT>aaC		zinc finger homeobox 4							26	27	27					8																	77618747		2051	4205	6256	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618747T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2424T>C	8.37:g.77618747T>C		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N	p.N808N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2872	+			808					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2424T>C	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	85	0	0	0	1	0	16	85					C	77618747	T	C	77618747	2	2	79	1	0	0	0	0	0	0	0	1	17688	1432	50	4		4	ZFHX4	8	77618747	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	77618747	68745275	9497	19814											
ZFHX4	79776	broad.mit.edu	37	chr8	77762534	77762534	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctactgccagcagctgcCtctgagaaatcagagcggga	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000455469.2_Silent_p.A1255A|ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000050961.6_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAGCTGCCTCTGAGAAAT	0.478										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3898-3900)gcC>gcA		zinc finger homeobox 4							47	51	50					8																	77762534		1947	4144	6091	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77762534C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3900C>A	8.37:g.77762534C>A		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000455469.2_Silent_p.A1255A	p.A1300A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	4348	+			1255					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3900C>A	CCDS47878.2																																																																																				0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	92	1	0	1.10923e-09	1	1.16946e-09	20	92					A	77762534	C	A	77762534	2	1	79	1	0	0	0	0	0	0	0	1	17688	668	24	3		3	ZFHX4	8	77762534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143787	77762534	68601488	9498	19815											
ZFHX4	79776	broad.mit.edu	37	chr8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcaggccaccctgaaCtgagtgaagctgaacttcaa	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCCTGAACTGAGTGAAGC	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4351-4353)Ctg>Atg		zinc finger homeobox 4							42	41	41					8																	77763508		1984	4159	6143	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763508C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4351C>A	8.37:g.77763508C>A	ENSP00000430497:p.Leu1451Met	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M	p.L1451M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4799	+			1406					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4351C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161838	0.38217	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.48;0.52;0.47;0.49	5.01	3.12	0.35913	Zinc finger, C2H2 (1);	0.000000	0.35615	U	0.003097	T	0.62466	0.2430	L	0.50333	1.59	0.48901	D	0.999721	D;D;D	0.76494	0.989;0.999;0.994	P;D;P	0.66979	0.786;0.948;0.894	T	0.64972	-0.6281	10	0.72032	D	0.01	.	10.7432	0.46166	0.0:0.7962:0.1309:0.0729	.	1406;1406;1451	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1451;1451;1406;1406;1425	ENSP00000430497:L1451M;ENSP00000399605:L1406M;ENSP00000050961:L1406M;ENSP00000430848:L1425M	ENSP00000050961:L1406M	L	+	1	2	ZFHX4	77926063	1.000000	0.71417	0.977000	0.42913	0.822000	0.46500	5.927000	0.70080	1.313000	0.45069	0.549000	0.68633	CTG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		29	107	1	0	3.99451e-17	1	4.40333e-17	29	107					A	77763508	C	A	77763508	3	1	79	1	0	0	0	0	1	0	0	0	17688	564	20	3	4385	3	ZFHX4	8	77763508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974	77763508	68600514	9499	19816											
ZFHX4	79776	broad.mit.edu	37	chr8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacagcaaagatacccaTttagatgccaaagaattaaa	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1619	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGATACCCATTTAGATGCCA	0.448										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4990-4992)caT>caA		zinc finger homeobox 4							89	87	87					8																	77764149		1935	4134	6069	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764149T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4992T>A	8.37:g.77764149T>A	ENSP00000430497:p.His1664Gln	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q	p.H1664Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5440	+			1619			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4992T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410196	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.93;0.9;0.89	4.41	2.47	0.30058	.	0.000000	0.46442	U	0.000296	T	0.26195	0.0639	L	0.44542	1.39	0.37302	D	0.908734	B;B;B	0.29508	0.159;0.246;0.246	B;B;B	0.26416	0.031;0.069;0.069	T	0.07731	-1.0757	10	0.13470	T	0.59	.	4.5736	0.12223	0.0:0.4457:0.0:0.5543	.	1619;1619;1664	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1664;1664;1619;1619;1638	ENSP00000430497:H1664Q;ENSP00000399605:H1619Q;ENSP00000050961:H1619Q;ENSP00000430848:H1638Q	ENSP00000050961:H1619Q	H	+	3	2	ZFHX4	77926704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.937000	0.28951	1.104000	0.41587	0.443000	0.29094	CAT		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		40	350	0	0	0	1	0	40	350					A	77764149	T	A	77764149	3	1	79	1	0	0	0	0	1	0	0	0	17688	1490	52	5	5026	5	ZFHX4	8	77764149	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	641	77764149	68599873	9500	19817											
ZFHX4	79776	broad.mit.edu	37	chr8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggccagaggaaatgctgCcaaagcgttattggaaaact	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAATGCTGCCAAAGCGTTA	0.458										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5725-5727)gCc>gAc		zinc finger homeobox 4							27	25	26					8																	77764883		1896	4109	6005	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764883C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5726C>A	8.37:g.77764883C>A	ENSP00000430497:p.Ala1909Asp	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D	p.A1909D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6174	+			1864					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5726C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279827	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	4.71	4.71	0.59529	.	0.000000	0.41823	U	0.000808	T	0.54598	0.1868	M	0.68952	2.095	0.80722	D	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.47573	0.348;0.55;0.55	T	0.54820	-0.8236	10	0.32370	T	0.25	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1864;1864;1909	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1909;1909;1864;1864;1883	ENSP00000430497:A1909D;ENSP00000399605:A1864D;ENSP00000050961:A1864D;ENSP00000430848:A1883D	ENSP00000050961:A1864D	A	+	2	0	ZFHX4	77927438	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.594000	0.82698	2.631000	0.89168	0.632000	0.83419	GCC		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	92	1	0	1.02788e-11	1	1.09837e-11	18	92					A	77764883	C	A	77764883	3	1	79	1	0	0	0	0	1	0	0	0	17688	739	26	3	5760	3	ZFHX4	8	77764883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734	77764883	68599139	9501	19818											
ZFHX4	79776	broad.mit.edu	37	chr8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgatgactggacaactgCtgggcagttccctcactcaa	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGACAACTGCTGGGCAGTTC	0.517										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7654-7656)Ctg>Atg		zinc finger homeobox 4							96	95	95					8																	77766811		1956	4140	6096	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766811C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7654C>A	8.37:g.77766811C>A	ENSP00000430497:p.Leu2552Met	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M	p.L2552M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8102	+			2507					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7654C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885405	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.34;0.4;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.36628	U	0.002491	T	0.72748	0.3499	M	0.71581	2.175	0.54753	D	0.999984	D;D;P	0.69078	0.994;0.997;0.864	D;D;P	0.75484	0.98;0.986;0.706	T	0.72204	-0.4361	10	0.49607	T	0.09	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2507;2507;2552	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2552;2536;2507;2507;2526	ENSP00000430497:L2552M;ENSP00000399605:L2507M;ENSP00000050961:L2507M;ENSP00000430848:L2526M	ENSP00000050961:L2507M	L	+	1	2	ZFHX4	77929366	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.780000	0.68956	2.791000	0.96007	0.650000	0.86243	CTG		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	479	1	0	4.3838e-07	1	4.54049e-07	13	479					A	77766811	C	A	77766811	3	1	79	1	0	0	0	0	1	0	0	0	17688	796	28	3	7688	3	ZFHX4	8	77766811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	77766811	68597211	9502	19819											
ZFHX4	79776	broad.mit.edu	37	chr8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagattggtctgcccaaaCgcgtagtccaggtgtggttc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.R2955C(1)	kidney(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8911-8913)Cgc>Tgc		zinc finger homeobox 4							62	58	60					8																	77768068		1944	4141	6085	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768068C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8911C>T	8.37:g.77768068C>T	ENSP00000430497:p.Arg2971Cys	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C	p.R2971C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9359	+			2926					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8911C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	171	0	0	0	1	0	25	171					T	77768068	C	T	77768068	3	4	79	1	0	0	0	0	1	0	0	0	17688	536	19	1	8945	1	ZFHX4	8	77768068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1257	77768068	68595954	9503	19820											
FAM164A	51101	broad.mit.edu	37	chr8	79590871	79590871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcaagcagacagagagCtgaaggaactgatattccaa	10	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79590871C>T	ENST00000263849.4	+	3	269	c.167C>T	c.(166-168)gCt>gTt	p.A56V	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	56							metal ion binding (GO:0046872)										AGACAGAGAGCTGAAGGAACT	0.358																																						ENST00000263849.4																			0											c.(166-168)gCt>gTt		zinc finger, C2HC-type containing 1A							122	127	125					8																	79590871		2203	4299	6502	SO:0001583	missense	51101							g.chr8:79590871C>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.167C>T	8.37:g.79590871C>T	ENSP00000263849:p.Ala56Val					ZC2HC1A_ENST00000521176.1_3'UTR	p.A56V	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	269	+			56					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.167C>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976042	0.92982	.	.	ENSG00000104427	ENST00000263849	T	0.44482	0.92	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.28694	0.88	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.39078	-0.9631	9	.	.	.	-22.669	19.8459	0.96707	0.0:1.0:0.0:0.0	.	56	Q96GY0	F164A_HUMAN	V	56	ENSP00000263849:A56V	.	A	+	2	0	FAM164A	79753426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.207000	0.77899	2.788000	0.95919	0.585000	0.79938	GCT		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		92	384	0	0	0	1	0	92	384					T	79590871	C	T	79590871	3	4	79	1	0	0	0	0	1	0	0	0	5499	797	28	2	177	2	FAM164A	8	79590871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1822803	79590871	66773151	9504	19821											
IL7	3574	broad.mit.edu	37	chr8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattagcatcacagataTgtcttttaaaaaagttaaat	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000520269.1_Missense_Mutation_p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	70					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(208-210)cAt>cGt		interleukin 7							43	45	44					8																	79652256		2194	4275	6469	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79652256T>C	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.209A>G	8.37:g.79652256T>C	ENSP00000263851:p.His70Arg					IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.H70R|IL7_ENST00000541183.1_Missense_Mutation_p.H19R	p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			3	809	-			70					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.209A>G	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965768	0.53507	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	.	0.381500	0.22540	N	0.058737	T	0.51449	0.1675	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.61070	0.883;0.865	T	0.45264	-0.9273	9	.	.	.	.	11.3049	0.49329	0.0:0.0:0.0:1.0	.	70;70	P13232;Q5FBY9	IL7_HUMAN;.	R	70;70;67;19	ENSP00000263851:H70R;ENSP00000427750:H70R;ENSP00000438922:H19R	.	H	-	2	0	IL7	79814811	1.000000	0.71417	0.989000	0.46669	0.580000	0.36256	3.252000	0.51461	2.234000	0.73211	0.460000	0.39030	CAT		0.274	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			21	87	0	0	0	1	0	21	87					C	79652256	T	C	79652256	3	2	79	1	0	0	0	0	1	0	0	0	7734	1464	51	4	340	4	IL7	8	79652256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61385	79652256	66711766	9505	19822											
STMN2	11075	broad.mit.edu	37	chr8	80549083	80549083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctgtcactgatctgCtcttgcttttacccggaacc	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000220876.7	+	2	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	22	Membrane attachment. {ECO:0000255}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CACTGATCTGCTCTTGCTTTT	0.393																																						ENST00000220876.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(64-66)tgC>tgT		stathmin-like 2							121	111	114					8																	80549083		1923	4156	6079	SO:0001819	synonymous_variant	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80549083C>T		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.66C>T	8.37:g.80549083C>T						STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	p.C22C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		2	448	+	all_lung(9;8.34e-05)		22			Membrane attachment (Potential).		A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	37	c.66C>T	CCDS43748.1																																																																																				0.393	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		77	349	0	0	0	1	0	77	349					T	80549083	C	T	80549083	2	4	79	1	0	0	0	0	0	0	0	1	15361	805	28	2		2	STMN2	8	80549083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	896827	80549083	65814939	9506	19823											
ZNF704	619279	broad.mit.edu	37	chr8	81599496	81599496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggctcgtcgaagagcaGgttgctggcctccgcctcgt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	175							metal ion binding (GO:0046872)			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)			TCGAAGAGCAGGTTGCTGGCC	0.632											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(523-525)Ctg>Ttg		zinc finger protein 704							54	52	52					8																	81599496		2164	4263	6427	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81599496G>A	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.523C>T	8.37:g.81599496G>A			OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ZNF704_ENST00000520336.1_5'UTR	p.L175L	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		4	754	-	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)		175					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.523C>T	CCDS34913.1																																																																																				0.632	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		48	420	0	0	0	1	0	48	420					A	81599496	G	A	81599496	2	1	79	1	0	0	0	0	0	0	0	1	18160	991	35	2		2	ZNF704	8	81599496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1050413	81599496	64764526	9507	19824											
PAG1	55824	broad.mit.edu	37	chr8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttactgatgagtacataGctgagatctaggagacaaag	10	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	315					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGAGTACATAGCTGAGATCTA	0.473																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(943-945)gCt>gAt		phosphoprotein associated with glycosphingolipid microdomains 1							86	91	90					8																	81889134		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81889134G>T	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.944C>A	8.37:g.81889134G>T	ENSP00000220597:p.Ala315Asp						p.A315D	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1654	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		315					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.944C>A	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827193	0.90955	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.53	5.53	0.82687	.	0.119572	0.56097	D	0.000027	T	0.77329	0.4114	M	0.67953	2.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	9	0.20519	T	0.43	-15.1381	19.0444	0.93013	0.0:0.0:1.0:0.0	.	315	Q9NWQ8	PAG1_HUMAN	D	315	.	ENSP00000220597:A315D	A	-	2	0	PAG1	82051689	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.973000	0.76116	2.604000	0.88044	0.655000	0.94253	GCT		0.473	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		86	363	1	0	1.26458e-31	1	1.48988e-31	86	363					T	81889134	G	T	81889134	3	4	79	1	0	0	0	0	1	0	0	0	11430	971	34	3	358	3	PAG1	8	81889134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289638	81889134	64474888	9508	19825											
FABP9	646480	broad.mit.edu	37	chr8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgttgtctctttgccaaGccatttttggacgtgaatca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	99					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(295-297)Ctt>Att		fatty acid binding protein 9, testis							103	95	98					8																	82370890		2201	4300	6501	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82370890G>T			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"Fatty acid binding protein family"	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.295C>A	8.37:g.82370890G>T	ENSP00000368362:p.Leu99Ile					RP11-157I4.4_ENST00000524085.2_RNA	p.L99I	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		3	350	-			99						Missense_Mutation	SNP	ENST00000379071.2	37	c.295C>A		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643769	0.29246	.	.	ENSG00000205186	ENST00000379071	T	0.07800	3.16	5.28	4.41	0.53225	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.181563	0.45606	D	0.000357	T	0.06554	0.0168	N	0.22421	0.69	0.27626	N	0.94819	B	0.06786	0.001	B	0.19148	0.024	T	0.18304	-1.0341	10	0.87932	D	0	.	8.8977	0.35474	0.0:0.1633:0.6672:0.1695	.	99	Q0Z7S8	FABP9_HUMAN	I	99	ENSP00000368362:L99I	ENSP00000368362:L99I	L	-	1	0	FABP9	82533445	0.998000	0.40836	0.992000	0.48379	0.537000	0.34900	1.881000	0.39638	1.459000	0.47892	-0.152000	0.13540	CTT		0.328	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		13	267	1	0	5.50884e-06	1	5.65664e-06	13	267					T	82370890	G	T	82370890	3	4	79	1	0	0	0	0	1	0	0	0	5384	971	34	3	110	3	FABP9	8	82370890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481756	82370890	63993132	9509	19826											
FABP4	2167	broad.mit.edu	37	chr8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccaccagtttatcatcCtctcgttttctctttatggt	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	110					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(328-330)gaG>gaT		fatty acid binding protein 4, adipocyte							302	270	281					8																	82391667		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82391667C>A	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.330G>T	8.37:g.82391667C>A	ENSP00000256104:p.Glu110Asp					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.E110D	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		3	425	-			110					Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.330G>T	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031752	0.19590	.	.	ENSG00000170323	ENST00000256104	T	0.08458	3.09	5.56	3.71	0.42584	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477666	0.24683	N	0.036444	T	0.03520	0.0101	N	0.08118	0	0.33815	D	0.628387	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.3675	0.16121	0.1482:0.6352:0.0:0.2166	.	110	P15090	FABP4_HUMAN	D	110	ENSP00000256104:E110D	ENSP00000256104:E110D	E	-	3	2	FABP4	82554222	0.567000	0.26626	1.000000	0.80357	0.961000	0.63080	-0.082000	0.11304	0.779000	0.33543	0.655000	0.94253	GAG		0.403	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		50	263	1	0	1.39843e-22	1	1.58406e-22	50	263					A	82391667	C	A	82391667	3	1	79	1	0	0	0	0	1	0	0	0	5380	680	24	3	76	3	FABP4	8	82391667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20777	82391667	63972355	9510	19827											
SLC10A5	347051	broad.mit.edu	37	chr8	82606167	82606167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtacccaaacagcaaAcccaaagcaggaactaagag	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	347						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(1039-1041)ggT>ggC		solute carrier family 10, member 5							70	70	70					8																	82606167		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606167A>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1041T>C	8.37:g.82606167A>G							p.G347G	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	2242	-			347					B2RN26	Silent	SNP	ENST00000518568.1	37	c.1041T>C	CCDS34915.1																																																																																				0.383	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		62	247	0	0	0	1	0	62	247					G	82606167	A	G	82606167	2	3	79	1	0	0	0	0	0	0	0	1	14427	30	2	4		4	SLC10A5	8	82606167	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214500	82606167	63757855	9511	19828											
SLC10A5	347051	broad.mit.edu	37	chr8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatagtattagtggtaaaaTaagcattaggatatttctat	7	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	147						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(439-441)Att>Gtt		solute carrier family 10, member 5							93	92	92					8																	82606769		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606769T>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.439A>G	8.37:g.82606769T>C	ENSP00000428612:p.Ile147Val						p.I147V	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1640	-			147					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.439A>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035759	0.07497	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-2.11	0.07187	.	0.780519	0.11152	N	0.594054	T	0.02533	0.0077	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.44314	-0.9336	10	0.07990	T	0.79	-2.728	0.1022	0.00049	0.2512:0.2181:0.2353:0.2954	.	147	Q5PT55	NTCP5_HUMAN	V	147	ENSP00000428612:I147V	ENSP00000428612:I147V	I	-	1	0	SLC10A5	82769324	0.744000	0.28250	0.157000	0.22605	0.064000	0.16182	-0.299000	0.08254	-0.588000	0.05882	0.533000	0.62120	ATT		0.343	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		68	303	0	0	0	1	0	68	303					C	82606769	T	C	82606769	3	2	79	1	0	0	0	0	1	0	0	0	14427	1406	49	4	879	4	SLC10A5	8	82606769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602	82606769	63757253	9512	19829											
SLC10A5	347051	broad.mit.edu	37	chr8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtttgagcactttgActttcacattcttgatttct	5	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	123						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(367-369)gTc>gCc		solute carrier family 10, member 5							147	137	140					8																	82606840		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606840A>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.368T>C	8.37:g.82606840A>G	ENSP00000428612:p.Val123Ala						p.V123A	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1569	-			123					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.368T>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546548	0.45383	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.17	5.01	0.66863	.	0.674660	0.12872	N	0.432189	T	0.07279	0.0184	L	0.27053	0.805	0.25180	N	0.990217	P	0.42871	0.792	B	0.35182	0.197	T	0.24012	-1.0172	10	0.28530	T	0.3	-6.5206	9.4185	0.38536	0.9187:0.0:0.0813:0.0	.	123	Q5PT55	NTCP5_HUMAN	A	123	ENSP00000428612:V123A	ENSP00000428612:V123A	V	-	2	0	SLC10A5	82769395	0.970000	0.33590	0.996000	0.52242	0.901000	0.52897	3.086000	0.50159	2.371000	0.80710	0.533000	0.62120	GTC		0.358	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		68	345	0	0	0	1	0	68	345					G	82606840	A	G	82606840	3	3	79	1	0	0	0	0	1	0	0	0	14427	275	10	4	950	4	SLC10A5	8	82606840	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71	82606840	63757182	9513	19830											
SNX16	64089	broad.mit.edu	37	chr8	82714673	82714673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggactccacctttaGgatctgttcaccttctgttt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82714673G>A	ENST00000345957.4	-	7	1158	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SNX16_ENST00000396330.2_Silent_p.L294L|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000353788.4_Silent_p.L265L	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	294					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCCACCTTTAGGATCTGTTCA	0.338																																						ENST00000396330.2																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(880-882)Cta>Tta		sorting nexin 16							107	103	104					8																	82714673		2203	4300	6503	SO:0001819	synonymous_variant	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82714673G>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.880C>T	8.37:g.82714673G>A						SNX16_ENST00000353788.4_Silent_p.L265L|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000345957.4_Silent_p.L294L	p.L294L	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN			8	1386	-			294					A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	37	c.880C>T	CCDS6234.1																																																																																				0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		6	196	0	0	0	1	0	6	196					A	82714673	G	A	82714673	2	1	79	1	0	0	0	0	0	0	0	1	14937	991	35	2		2	SNX16	8	82714673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107833	82714673	63649349	9514	19831											
LRRCC1	85444	broad.mit.edu	37	chr8	86042165	86042165	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttactcagataagactgatCcaagaggtggaactcaaagc	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000360375.3	+	11	1787	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	LRRCC1_ENST00000414626.2_Silent_p.I526I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	546					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1576-1578)atC>atA		leucine rich repeat and coiled-coil centrosomal protein 1							90	94	93					8																	86042165		1824	4081	5905	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042165C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1638C>A	8.37:g.86042165C>A						LRRCC1_ENST00000360375.3_Silent_p.I546I	p.I526I			Q9C099	LRCC1_HUMAN			10	2467	+			546					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.1578C>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401444	0.11696	.	.	ENSG00000133739	ENST00000426019	.	.	.	5.27	1.93	0.25924	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10660	-1.0620	5	0.21014	T	0.42	-0.2633	5.4284	0.16440	0.0:0.3821:0.1529:0.465	.	.	.	.	T	266	.	ENSP00000400370:P266T	P	+	1	0	LRRCC1	86229417	0.954000	0.32549	0.949000	0.38748	0.763000	0.43281	0.082000	0.14847	0.158000	0.19367	-0.345000	0.07892	CCA		0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		85	426	1	0	7.74691e-53	1	9.64371e-53	85	426					A	86042165	C	A	86042165	2	1	79	1	0	0	0	0	0	0	0	1	9064	845	30	3		3	LRRCC1	8	86042165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3327492	86042165	60321857	9515	19832											
LRRCC1	85444	broad.mit.edu	37	chr8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcaaagcttcagctgccGatagagaaatatacttactt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000360375.3	+	11	1818	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D537N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	557					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1609-1611)Gat>Aat		leucine rich repeat and coiled-coil centrosomal protein 1							92	96	94					8																	86042196		1834	4087	5921	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042196G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1669G>A	8.37:g.86042196G>A	ENSP00000353538:p.Asp557Asn					LRRCC1_ENST00000360375.3_Missense_Mutation_p.D557N	p.D537N			Q9C099	LRCC1_HUMAN			10	2498	+			557					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1609G>A	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.982000|2.982000	0.53827|0.53827	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.37348|.	N|.	0.002140|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.29908|0.29908	0.895|0.895	0.28037|0.28037	N|N	0.93392|0.93392	D;P;D;P|.	0.62365|.	0.974;0.954;0.991;0.743|.	B;B;P;B|.	0.46299|.	0.288;0.441;0.511;0.08|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|6	0.48119|0.87932	T|D	0.1|0	-23.6791|-23.6791	11.1003|11.1003	0.48170|0.48170	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	464;537;464;557|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	N|Q	557;537|276	ENSP00000353538:D557N;ENSP00000394695:D537N|.	ENSP00000353538:D557N|ENSP00000400370:R276Q	D|R	+|+	1|2	0|0	LRRCC1|LRRCC1	86229448|86229448	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.832000|3.832000	0.55783|0.55783	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.373	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		42	463	0	0	0	1	0	42	463					A	86042196	G	A	86042196	3	1	79	1	0	0	0	0	1	0	0	0	9064	1058	37	1	1711	1	LRRCC1	8	86042196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	86042196	60321826	9516	19833											
E2F5	1875	broad.mit.edu	37	chr8	86115389	86115389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattaagatatcttaaagcTgaaattgaagatctagaact	7	4	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000416274.2	+	3	439	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000418930.2_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	135	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(403-405)gcT>gcC		E2F transcription factor 5, p130-binding							56	54	55					8																	86115389		1845	4095	5940	SO:0001819	synonymous_variant	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115389T>C	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.405T>C	8.37:g.86115389T>C						E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000416274.2_Silent_p.A135A	p.A135A			Q15329	E2F5_HUMAN			3	601	+			135			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	c.405T>C	CCDS47885.1																																																																																				0.338	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		13	96	0	0	0	1	0	13	96					C	86115389	T	C	86115389	2	2	79	1	0	0	0	0	0	0	0	1	4886	1567	55	4		4	E2F5	8	86115389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73193	86115389	60248633	9517	19834											
E2F5	1875	broad.mit.edu	37	chr8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaaaatgtgatggacgattCcattaataatagatatcctt	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000416274.2	+	3	528	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	165	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGGACGATTCCATTAATAAT	0.303																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(493-495)tCc>tAc		E2F transcription factor 5, p130-binding							57	55	56					8																	86115478		1832	4093	5925	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115478C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.494C>A	8.37:g.86115478C>A	ENSP00000398124:p.Ser165Tyr					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000416274.2_Missense_Mutation_p.S165Y	p.S165Y			Q15329	E2F5_HUMAN			3	690	+			165			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.494C>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468270	0.63625	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.55	5.55	0.83447	.	0.050297	0.85682	D	0.000000	D	0.88890	0.6560	M	0.69823	2.125	0.80722	D	1	P;P	0.48089	0.905;0.847	P;B	0.49085	0.6;0.284	D	0.89516	0.3775	10	0.59425	D	0.04	-2.4367	19.4996	0.95089	0.0:1.0:0.0:0.0	.	165;165	Q15329-2;Q15329	.;E2F5_HUMAN	Y	165;165;165;4	ENSP00000414312:S165Y;ENSP00000256117:S165Y;ENSP00000398124:S165Y;ENSP00000429120:S4Y	ENSP00000256117:S165Y	S	+	2	0	E2F5	86302730	0.983000	0.35010	1.000000	0.80357	0.926000	0.56050	7.718000	0.84743	2.606000	0.88127	0.650000	0.86243	TCC		0.303	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		23	95	1	0	7.87624e-14	1	8.52853e-14	23	95					A	86115478	C	A	86115478	3	1	79	1	0	0	0	0	1	0	0	0	4886	855	30	3	504	3	E2F5	8	86115478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	86115478	60248544	9518	19835											
E2F5	1875	broad.mit.edu	37	chr8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagtcgagttcatctaagcCcgtggtttttcctgttcccc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000416274.2	+	6	747	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.P238H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	238					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(712-714)cCc>cAc		E2F transcription factor 5, p130-binding							140	139	139					8																	86121474		1967	4146	6113	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121474C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.713C>A	8.37:g.86121474C>A	ENSP00000398124:p.Pro238His					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000416274.2_Missense_Mutation_p.P238H	p.P238H			Q15329	E2F5_HUMAN			6	909	+			238					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.713C>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460149	0.84317	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	6.13	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.99	D	0.95449	0.8532	10	0.59425	D	0.04	-17.471	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	65;238;238	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	238;239;238;77;65;74	ENSP00000414312:P238H;ENSP00000256117:P239H;ENSP00000398124:P238H;ENSP00000429120:P77H;ENSP00000428606:P65H;ENSP00000429669:P74H	ENSP00000256117:P239H	P	+	2	0	E2F5	86308726	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.483000	0.81158	1.601000	0.50113	0.650000	0.86243	CCC		0.453	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		39	246	1	0	5.43694e-19	1	6.05247e-19	39	246					A	86121474	C	A	86121474	3	1	79	1	0	0	0	0	1	0	0	0	4886	623	22	3	735	3	E2F5	8	86121474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5996	86121474	60242548	9519	19836											
E2F5	1875	broad.mit.edu	37	chr8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccacctgatgacctcAcacagccttcctcccagtcc	4	21	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000416274.2	+	6	782	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.T250A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	250					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(748-750)Aca>Gca		E2F transcription factor 5, p130-binding							112	112	112					8																	86121509		2007	4185	6192	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121509A>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.748A>G	8.37:g.86121509A>G	ENSP00000398124:p.Thr250Ala					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000416274.2_Missense_Mutation_p.T250A	p.T250A			Q15329	E2F5_HUMAN			6	944	+			250					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.748A>G	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.274|4.274	0.050017|0.050017	0.08243|0.08243	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.86562	.|-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	6.13|6.13	4.98|4.98	0.66077|0.66077	.|.	.|0.486351	.|0.24282	.|N	.|0.039882	T|T	0.73923|0.73923	0.3649|0.3649	N|N	0.20986|0.20986	0.625|0.625	0.33317|0.33317	D|D	0.566848|0.566848	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.10450	.|0.001;0.005;0.002	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.08179	.|T	.|0.78	-13.1823|-13.1823	6.1664|6.1664	0.20392|0.20392	0.715:0.138:0.147:0.0|0.715:0.138:0.147:0.0	.|.	.|77;250;250	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	R|A	21|250;251;250;89;77;86	.|ENSP00000414312:T250A;ENSP00000256117:T251A;ENSP00000398124:T250A;ENSP00000429120:T89A;ENSP00000428606:T77A;ENSP00000429669:T86A	.|ENSP00000256117:T251A	H|T	+|+	2|1	0|0	E2F5|E2F5	86308761|86308761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.170000|2.170000	0.42443|0.42443	1.155000|1.155000	0.42497|0.42497	0.529000|0.529000	0.55759|0.55759	CAC|ACA		0.483	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		36	235	0	0	0	1	0	36	235					G	86121509	A	G	86121509	3	3	79	1	0	0	0	0	1	0	0	0	4886	159	6	4	770	4	E2F5	8	86121509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	86121509	60242513	9520	19837											
C8orf59	1875	broad.mit.edu	37	chr8	86127224	86127224	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtacatttacaaaagCtttatttactctgttaactt	3	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86127224C>A	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518091.1_Missense_Mutation_p.A53S|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000458398.2_Missense_Mutation_p.A53S|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000417663.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S|C8orf59_ENST00000431163.2_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTTACAAAAGCTTTATTTACT	0.279																																						ENST00000417663.2																			0											c.(157-159)Gct>Tct		chromosome 8 open reading frame 59							43	42	43					8																	86127224		1801	4059	5860	SO:0001628	intergenic_variant	401466							g.chr8:86127224C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127224C>A						E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000518091.1_Missense_Mutation_p.A53S|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000458398.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S	p.A53S	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			3	228	-			53					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.157G>T	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071863	0.55646	.	.	ENSG00000176731	ENST00000417663;ENST00000421308;ENST00000524353;ENST00000518091;ENST00000458398	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	T	0.56717	0.2004	L	0.41236	1.265	0.80722	D	1	P	0.51537	0.946	P	0.48840	0.592	T	0.60094	-0.7330	8	0.62326	D	0.03	-4.2817	14.2009	0.65705	0.0:0.9289:0.0:0.0711	.	53	E5RFW5	.	S	53	.	ENSP00000416245:A53S	A	-	1	0	C8orf59	86314476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.775000	0.47702	2.716000	0.92895	0.655000	0.94253	GCT		0.279	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		6	48	1	0	0.0293803	1	0.0294705	6	48					A	86127224	C	A	86127224	1	1	79	0	1	0	0	0	0	0	0	0	2441	797	28	3		3	C8orf59	8	86127224	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5715	86127224	60236798	9521	19838											
CA3	761	broad.mit.edu	37	chr8	86352068	86352068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtcttatgatggtggCtctgccaagaccatcctgaa	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	54					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	ATGATGGTGGCTCTGCCAAGA	0.463																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(160-162)ggC>ggA		carbonic anhydrase III, muscle specific							115	97	103					8																	86352068		2203	4300	6503	SO:0001819	synonymous_variant	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86352068C>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.162C>A	8.37:g.86352068C>A							p.G54G	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	245	+			54					B2R867|B3KUC8|O60842	Silent	SNP	ENST00000285381.2	37	c.162C>A	CCDS6238.1																																																																																				0.463	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		64	288	1	0	3.8128e-34	1	4.53067e-34	64	288					A	86352068	C	A	86352068	2	1	79	1	0	0	0	0	0	0	0	1	2524	784	28	3		3	CA3	8	86352068	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224844	86352068	60011954	9522	19839											
SLC7A13	157724	broad.mit.edu	37	chr8	87229945	87229945	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaagatatattggtctCgatgatttaaatatagaaat	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000419776.2_Silent_p.S302S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(931-933)tcG>tcA		solute carrier family 7 (anionic amino acid transporter), member 13							84	97	93					8																	87229945		2203	4297	6500	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229945C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.933G>A	8.37:g.87229945C>T						SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	p.S311S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1036	-			311					Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.933G>A	CCDS34917.1																																																																																				0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		109	568	0	0	0	1	0	109	568					T	87229945	C	T	87229945	2	4	79	1	0	0	0	0	0	0	0	1	14745	871	31	1		1	SLC7A13	8	87229945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877877	87229945	59134077	9523	19840											
SLC7A13	157724	broad.mit.edu	37	chr8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagctgtattttctcccCtctatccattgtaattgaag	6	10	2	2	rs146811954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	4						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(10-12)Ggg>Agg		solute carrier family 7 (anionic amino acid transporter), member 13							41	43	42					8																	87242497		2203	4297	6500	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242497C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.10G>A	8.37:g.87242497C>T	ENSP00000297524:p.Gly4Arg					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	p.G4R	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	113	-			4					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.10G>A	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.279145	0.10458	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90676	-2.42;-2.71	3.63	-0.275	0.12906	.	1.394900	0.04747	N	0.423834	D	0.85561	0.5725	L	0.46819	1.47	0.09310	N	1	P;B	0.35542	0.508;0.025	B;B	0.31290	0.127;0.01	T	0.72646	-0.4230	10	0.41790	T	0.15	.	6.6284	0.22843	0.0:0.568:0.0:0.432	.	4;4	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	4	ENSP00000297524:G4R;ENSP00000410982:G4R	ENSP00000297524:G4R	G	-	1	0	SLC7A13	87311613	0.131000	0.22433	0.001000	0.08648	0.352000	0.29268	1.084000	0.30828	-0.075000	0.12798	0.609000	0.83330	GGG		0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		25	311	0	0	0	1	0	25	311					T	87242497	C	T	87242497	3	4	79	1	0	0	0	0	1	0	0	0	14745	681	24	2	1418	2	SLC7A13	8	87242497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12552	87242497	59121525	9524	19841											
WWP1	11059	broad.mit.edu	37	chr8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagttcttctaatccaAaatgggatgaacagctaact	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	63	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(187-189)Aaa>Caa		WW domain containing E3 ubiquitin protein ligase 1							72	69	70					8																	87393071		2203	4299	6502	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87393071A>C	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.187A>C	8.37:g.87393071A>C	ENSP00000427793:p.Lys63Gln					WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q	p.K63Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			4	494	+			63			C2.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.187A>C	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691670	0.48097	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69435	-0.4;-0.4;-0.4	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056242	0.64402	D	0.000001	T	0.74997	0.3790	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.71414	0.973	T	0.74805	-0.3540	10	0.42905	T	0.14	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	63	Q9H0M0	WWP1_HUMAN	Q	63	ENSP00000427793:K63Q;ENSP00000265428:K63Q;ENSP00000340564:K63Q	ENSP00000265428:K63Q	K	+	1	0	WWP1	87462187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.237000	0.89807	2.153000	0.67306	0.482000	0.46254	AAA		0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		28	125	0	0	0	1	0	28	125					C	87393071	A	C	87393071	3	2	79	1	0	0	0	0	1	0	0	0	17469	15	1	4	193	4	WWP1	8	87393071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150574	87393071	58970951	9525	19842											
FAM82B	51115	broad.mit.edu	37	chr8	87487169	87487169	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaagtaagtttttgctgtaGaagtttggatccactgcaca	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87487169G>T	ENST00000406452.3	-	9	933	c.774C>A	c.(772-774)ttC>ttA	p.F258L	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.F228L|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	258						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TTTTGCTGTAGAAGTTTGGAT	0.348																																						ENST00000406452.3																			0											c.(772-774)ttC>ttA		regulator of microtubule dynamics 1							128	120	123					8																	87487169		2203	4300	6503	SO:0001583	missense	51115							g.chr8:87487169G>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.774C>A	8.37:g.87487169G>T	ENSP00000385927:p.Phe258Leu					RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.F228L|RMDN1_ENST00000519966.1_Intron	p.F258L	NM_016033.2	NP_057117.2					9	933	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.774C>A	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.125243|4.125243	0.77436|0.77436	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000430676|ENST00000517710;ENST00000519639;ENST00000522942	T;T|.	0.54279|.	0.58;0.58|.	5.49|5.49	3.31|3.31	0.37934|0.37934	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74359|0.74359	0.3706|0.3706	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.959|.	D;P|.	0.91635|.	0.999;0.816|.	T|T	0.76189|0.76189	-0.3050|-0.3050	10|5	0.30854|.	T|.	0.27|.	-13.0414|-13.0414	9.3135|9.3135	0.37919|0.37919	0.2623:0.0:0.7377:0.0|0.2623:0.0:0.7377:0.0	.|.	228;258|.	B4DZW6;Q96DB5|.	.;RMD1_HUMAN|.	L|Y	258;228|45;104;64	ENSP00000385927:F258L;ENSP00000409661:F228L|.	ENSP00000385927:F258L|.	F|S	-|-	3|2	2|0	FAM82B|FAM82B	87556285|87556285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.682000|2.682000	0.46934|0.46934	1.442000|1.442000	0.47568|0.47568	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.348	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		27	322	1	0	2.61193e-14	1	2.83483e-14	27	322					T	87487169	G	T	87487169	3	4	79	1	0	0	0	0	1	0	0	0	5657	933	33	3	178	3	FAM82B	8	87487169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94098	87487169	58876853	9526	19843											
CPNE3	8895	broad.mit.edu	37	chr8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgatggaaactggctaatGgttcatcggacagaggtgaa	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	176	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ACTGGCTAATGGTTCATCGGA	0.328																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(526-528)atG>atT		copine III							131	119	123					8																	87549859		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549859G>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.528G>T	8.37:g.87549859G>T	ENSP00000430934:p.Met176Ile					CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	690	+			176			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.528G>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809466	0.31961	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.38077	1.16;1.16;1.16	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089993	0.85682	D	0.000000	T	0.22742	0.0549	N	0.16166	0.38	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.06789	-1.0807	10	0.22706	T	0.39	-23.7135	13.9088	0.63853	0.0727:0.0:0.9273:0.0	.	176	O75131	CPNE3_HUMAN	I	176	ENSP00000198765:M176I;ENSP00000430934:M176I;ENSP00000427791:M176I	ENSP00000198765:M176I	M	+	3	0	CPNE3	87618975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.463000	0.66712	2.644000	0.89710	0.655000	0.94253	ATG		0.328	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			83	341	1	0	1.6246e-59	1	2.04043e-59	83	341					T	87549859	G	T	87549859	3	4	79	1	0	0	0	0	1	0	0	0	3822	1348	47	3	546	3	CPNE3	8	87549859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62690	87549859	58814163	9527	19844											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885634	88885634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatgctcagggaccagGcacaggaccaggcatcaggg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885634G>A	ENST00000319675.3	-	1	662	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	189										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						CAGGGACCAGGCACAGGACCA	0.582																																						ENST00000319675.3																			0				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						c.(565-567)gCc>gTc		DDB1 and CUL4 associated factor 4-like 2							155	139	144					8																	88885634		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885634G>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.566C>T	8.37:g.88885634G>A	ENSP00000316496:p.Ala189Val						p.A189V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	662	-			189						Missense_Mutation	SNP	ENST00000319675.3	37	c.566C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133113	0.77662	.	.	ENSG00000176566	ENST00000319675	T	0.67698	-0.28	1.39	1.39	0.22231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.094456	0.64402	D	0.000001	T	0.63224	0.2493	M	0.70275	2.135	0.36145	D	0.847078	P	0.48230	0.907	P	0.45681	0.49	T	0.66921	-0.5801	10	0.45353	T	0.12	.	6.1055	0.20071	0.0:0.0:1.0:0.0	.	189	Q8NA75	DC4L2_HUMAN	V	189	ENSP00000316496:A189V	ENSP00000316496:A189V	A	-	2	0	DCAF4L2	88954750	1.000000	0.71417	0.771000	0.31576	0.402000	0.30811	5.154000	0.64894	0.750000	0.32877	0.467000	0.42956	GCC		0.582	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		12	670	0	0	0	1	0	12	670					A	88885634	G	A	88885634	3	1	79	1	0	0	0	0	1	0	0	0	4283	1203	42	2	625	2	DCAF4L2	8	88885634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335775	88885634	57478388	9528	19845											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaggtgggaatccaaGtgattcagtgaggcccagca	14	8	1	3	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	137										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						GGGAATCCAAGTGATTCAGTG	0.562																																						ENST00000319675.3																			0				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						c.(409-411)caC>caA		DDB1 and CUL4 associated factor 4-like 2							104	98	100					8																	88885789		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885789G>T	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.411C>A	8.37:g.88885789G>T	ENSP00000316496:p.His137Gln						p.H137Q	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	507	-			137						Missense_Mutation	SNP	ENST00000319675.3	37	c.411C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590654	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.154096	0.64402	D	0.000012	T	0.46814	0.1412	L	0.39397	1.21	0.33377	D	0.574384	B	0.20671	0.047	B	0.18561	0.022	T	0.34502	-0.9826	10	0.17832	T	0.49	.	6.4598	0.21950	0.4841:0.0:0.5159:0.0	.	137	Q8NA75	DC4L2_HUMAN	Q	137	ENSP00000316496:H137Q	ENSP00000316496:H137Q	H	-	3	2	DCAF4L2	88954905	1.000000	0.71417	0.021000	0.16686	0.090000	0.18270	1.251000	0.32862	-0.661000	0.05345	-0.444000	0.05651	CAC		0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		79	397	1	0	9.35569e-46	1	1.14784e-45	79	397					T	88885789	G	T	88885789	3	4	79	1	0	0	0	0	1	0	0	0	4283	1020	36	3	780	3	DCAF4L2	8	88885789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	88885789	57478233	9529	19846											
MMP16	4325	broad.mit.edu	37	chr8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaatactcctttcctttgTagaaatacgtaaagcctagg	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	502					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)			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)	CTTTCCTTTGTAGAAATACGT	0.388																																						ENST00000286614.6																			0				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						c.(1504-1506)tAc>tCc		matrix metallopeptidase 16 (membrane-inserted)							128	112	117					8																	89054008		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.chr8:89054008T>G	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.1505A>C	8.37:g.89054008T>G	ENSP00000286614:p.Tyr502Ser						p.Y502S	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	1786	-			502			Hemopexin-like 4.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1505A>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175308	0.78564	.	.	ENSG00000156103	ENST00000286614	T	0.02579	4.24	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.91972	3.26	0.80722	D	1	P	0.47962	0.903	D	0.79108	0.992	T	0.01010	-1.1482	10	0.66056	D	0.02	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	502	P51512	MMP16_HUMAN	S	502	ENSP00000286614:Y502S	ENSP00000286614:Y502S	Y	-	2	0	MMP16	89123124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	TAC		0.388	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		35	151	0	0	0	1	0	35	151					G	89054008	T	G	89054008	3	3	79	1	0	0	0	0	1	0	0	0	9696	1638	57	4	322	4	MMP16	8	89054008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168219	89054008	57310014	9530	19847											
OSGIN2	734	broad.mit.edu	37	chr8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataacttccgtatcaagaCtctacagagatcaagatgat	6	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000297438.2	+	6	965	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	OSGIN2_ENST00000451899.2_Missense_Mutation_p.L248F	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	204					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(742-744)Ctc>Ttc		oxidative stress induced growth inhibitor family member 2							99	108	105					8																	90936852		2203	4299	6502	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90936852C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.610C>T	8.37:g.90936852C>T	ENSP00000297438:p.Leu204Phe					OSGIN2_ENST00000297438.2_Missense_Mutation_p.L204F	p.L248F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	1002	+			204						Missense_Mutation	SNP	ENST00000297438.2	37	c.742C>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035679	0.35893	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.01	5.01	0.66863	.	0.191779	0.46758	D	0.000264	T	0.35451	0.0932	L	0.56769	1.78	0.80722	D	1	D;D	0.61080	0.989;0.977	P;P	0.59056	0.735;0.851	T	0.02646	-1.1129	10	0.25751	T	0.34	-7.6292	13.3058	0.60351	0.1583:0.8417:0.0:0.0	.	248;204	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	204;248	ENSP00000297438:L204F;ENSP00000396445:L248F	ENSP00000297438:L204F	L	+	1	0	OSGIN2	91006027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.621000	0.67743	2.343000	0.79666	0.555000	0.69702	CTC		0.338	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		84	459	0	0	0	1	0	84	459					T	90936852	C	T	90936852	3	4	79	1	0	0	0	0	1	0	0	0	11332	565	20	2	764	2	OSGIN2	8	90936852	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1882844	90936852	55427170	9531	19848											
NBN	4683	broad.mit.edu	37	chr8	90965920	90965920	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttcttcatccctttccCttagatttaaaaaaaaagaa	3	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90965920C>A	ENST00000265433.3	-	11	1552		c.e11-1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin						blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCCTTTCCCTTAGATTTAA	0.338								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e11-1	Homologous recombination	nibrin							23	20	21					8																	90965920		2203	4292	6495	SO:0001630	splice_region_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965920C>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1398-1G>T	8.37:g.90965920C>A						NBN_ENST00000409330.1_Splice_Site		NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1552	-								B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	SNP	ENST00000265433.3	37		CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611120	0.66558	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBN	91035096	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	4.024000	0.57218	2.469000	0.83416	0.650000	0.86243	.		0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Intron	5	91	1	0	0.014758	1	0.0148251	5	91					A	90965920	C	A	90965920	5	1	79	1	0	0	0	0	0	0	1	0	10232	695	24	3	891	3	NBN	8	90965920	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29068	90965920	55398102	9532	19849											
DECR1	1666	broad.mit.edu	37	chr8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaatggcacagccttcGtgacactagaaattggaaaa	8	8	1	2	rs372630127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000220764.2	+	5	611	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.V166M	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	175					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACAGCCTTCGTGACACTAGA	0.363																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(496-498)Gtg>Atg		2,4-dienoyl CoA reductase 1, mitochondrial		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78	77	77		523	3.8	1	8		77	0,8598		0,0,4299	no	missense	DECR1	NM_001359.1	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	175/336	91033242	1,13003	2203	4299	6502	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91033242G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.523G>A	8.37:g.91033242G>A	ENSP00000220764:p.Val175Met					DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.V175M	p.V166M			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		7	1179	+			175					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.496G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304840	0.40795	2.27E-4	0.0	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87650	0.96;-2.28;0.96;-2.28;-2.28	5.59	3.83	0.44106	NAD(P)-binding domain (1);	0.055756	0.64402	N	0.000001	D	0.87549	0.6205	L	0.49455	1.56	0.80722	D	1	D;P	0.58620	0.983;0.697	P;B	0.53313	0.723;0.179	D	0.85099	0.0956	10	0.35671	T	0.21	.	12.5811	0.56391	0.135:0.0:0.865:0.0	.	166;175	B7Z6B8;Q16698	.;DECR_HUMAN	M	175;153;166;166;125	ENSP00000220764:V175M;ENSP00000430561:V153M;ENSP00000429779:V166M;ENSP00000427936:V166M;ENSP00000429096:V125M	ENSP00000220764:V175M	V	+	1	0	DECR1	91102418	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.127000	0.57944	0.748000	0.32831	-1.020000	0.02445	GTG		0.363	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			59	216	0	0	0	1	0	59	216					A	91033242	G	A	91033242	3	1	79	1	0	0	0	0	1	0	0	0	4393	1145	40	1	541	1	DECR1	8	91033242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67322	91033242	55330780	9533	19850											
TMEM64	169200	broad.mit.edu	37	chr8	91637980	91637980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtatttggttgattGcctttaaccagagaagattt	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000418210.2_Silent_p.G302G|TMEM64_ENST00000519519.1_Silent_p.G93G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	354					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388																																						ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(1060-1062)ggC>ggT		transmembrane protein 64							115	103	107					8																	91637980		2203	4300	6503	SO:0001819	synonymous_variant	169200					integral to membrane		g.chr8:91637980G>A	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1062C>T	8.37:g.91637980G>A						TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	p.G354G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		3	1239	-			354					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	c.1062C>T	CCDS34920.2																																																																																				0.388	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		43	198	0	0	0	1	0	43	198					A	91637980	G	A	91637980	2	1	79	1	0	0	0	0	0	0	0	1	16245	1306	46	2		2	TMEM64	8	91637980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604738	91637980	54726042	9534	19851											
TMEM64	169200	broad.mit.edu	37	chr8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaaggtatgggtgtcagtCtggccagcgccaccactttc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	251					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(751-753)aGa>aAa		transmembrane protein 64							69	72	71					8																	91657382		2203	4300	6503	SO:0001583	missense	169200					integral to membrane		g.chr8:91657382C>T	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.752G>A	8.37:g.91657382C>T	ENSP00000414786:p.Arg251Lys		OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K	p.R251K	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		1	929	-			251					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	c.752G>A	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	35	5.497108	0.96355	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	D	0.89203	0.3559	9	0.72032	D	0.01	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	251;251	F5GXM4;Q6YI46	.;TMM64_HUMAN	K	251;251;120	.	ENSP00000411951:R251K	R	-	2	0	TMEM64	91726558	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.277000	0.78572	2.098000	0.63641	0.555000	0.69702	AGA		0.592	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		61	347	0	0	0	1	0	61	347					T	91657382	C	T	91657382	3	4	79	1	0	0	0	0	1	0	0	0	16245	913	32	2	402	2	TMEM64	8	91657382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19402	91657382	54706640	9535	19852											
TMEM64	169200	broad.mit.edu	37	chr8	91657411	91657411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccactttcaggccgctTcctccctccactacgcgaat	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	TMEM64_ENST00000418210.2_Silent_p.G241G|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	241					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(721-723)ggA>ggG		transmembrane protein 64							63	63	63					8																	91657411		2203	4300	6503	SO:0001819	synonymous_variant	169200					integral to membrane		g.chr8:91657411T>C	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.723A>G	8.37:g.91657411T>C			OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G	p.G241G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		1	900	-			241					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	c.723A>G	CCDS34920.2																																																																																				0.617	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		62	267	0	0	0	1	0	62	267					C	91657411	T	C	91657411	2	2	79	1	0	0	0	0	0	0	0	1	16245	1770	62	4		4	TMEM64	8	91657411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	91657411	54706611	9536	19853											
TMEM55A	55529	broad.mit.edu	37	chr8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatctccacttaccgtaGcttcattgcaaactgtgcac	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	84						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(250-252)gCt>gTt		transmembrane protein 55A							97	88	91					8																	92033488		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92033488G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.251C>T	8.37:g.92033488G>A	ENSP00000285419:p.Ala84Val						p.A84V	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		2	565	-			84					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.251C>T	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467683	0.96257	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.75363	-0.3344	9	0.54805	T	0.06	-7.6323	19.8946	0.96949	0.0:0.0:1.0:0.0	.	84	Q8N4L2	TM55A_HUMAN	V	84;90	.	ENSP00000285419:A84V	A	-	2	0	TMEM55A	92102664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	GCT		0.343	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		65	271	0	0	0	1	0	65	271					A	92033488	G	A	92033488	3	1	79	1	0	0	0	0	1	0	0	0	16233	971	34	2	546	2	TMEM55A	8	92033488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376077	92033488	54330534	9537	19854											
SLC26A7	115111	broad.mit.edu	37	chr8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaaccacacagattaTtgctgcatcatttgcttgtt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(799-801)aTt>aGt		solute carrier family 26 (anion exchanger), member 7							101	96	98					8																	92350382		2203	4297	6500	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92350382T>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.800T>G	8.37:g.92350382T>G	ENSP00000276609:p.Ile267Ser					SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	p.I267S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1039	+			267						Missense_Mutation	SNP	ENST00000276609.3	37	c.800T>G	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734097|2.734097	0.48939|0.48939	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.94613|.	-3.47;-3.47;-3.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Sulphate transporter (1);|.	0.138507|.	0.50627|.	D|.	0.000115|.	T|T	0.70945|0.70945	0.3282|0.3282	L|L	0.58669|0.58669	1.825|1.825	0.44523|0.44523	D|D	0.997476|0.997476	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.18263|.	0.012;0.021|.	T|T	0.69296|0.69296	-0.5182|-0.5182	10|5	0.87932|.	D|.	0|.	.|.	16.1388|16.1388	0.81509|0.81509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;267|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	S|V	267|135	ENSP00000428849:I267S;ENSP00000276609:I267S;ENSP00000309504:I267S|.	ENSP00000276609:I267S|.	I|L	+|+	2|1	0|2	SLC26A7|SLC26A7	92419558|92419558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.140000|5.140000	0.64807|0.64807	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	ATT|TTG		0.303	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			63	246	0	0	0	1	0	63	246					G	92350382	T	G	92350382	3	3	79	1	0	0	0	0	1	0	0	0	14572	1493	52	4	822	4	SLC26A7	8	92350382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316894	92350382	54013640	9538	19855											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96	103	101					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	734						7	734	---	---	---	---	-	92998419	T	-	92998419	7	5	79	1	0	1	0	1	0	0	0	0	13797	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	648037	92998419	53365603	9539	19856											
FAM92A1	137392	broad.mit.edu	37	chr8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccaaacttcaggattatCgacaagcagaggtatggagt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	84										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGGATTATCGACAAGCAGA	0.443																																						ENST00000518322.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(250-252)Cga>Tga		family with sequence similarity 92, member A1							45	42	43					8																	94713675		1941	4149	6090	SO:0001587	stop_gained	137392							g.chr8:94713675C>T		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.250C>T	8.37:g.94713675C>T	ENSP00000429367:p.Arg84*					FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	391	+	Breast(36;2.4e-06)		84					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Nonsense_Mutation	SNP	ENST00000518322.1	37	c.250C>T	CCDS47892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.410186|6.410186	0.97546|0.97546	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007;ENST00000520955|ENST00000523453	.|.	.|.	.|.	4.38|4.38	3.43|3.43	0.39272|0.39272	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67948	.|-0.5538	.|4	0.02654|.	T|.	1|.	-15.1932|-15.1932	14.2849|14.2849	0.66240|0.66240	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|.	.|.	.|.	X|L	14;14;84;84;84;84;84;84;84;14|94	.|.	ENSP00000341363:R84X|.	R|S	+|+	1|2	2|0	FAM92A1|FAM92A1	94782851|94782851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.831000|5.831000	0.69330|0.69330	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.443	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		21	86	0	0	0	1	0	21	86					T	94713675	C	T	94713675	4	4	79	1	0	0	0	0	0	1	0	0	5677	876	31	1	256	1	FAM92A1	8	94713675	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1715256	94713675	51650347	9540	19857											
TMEM67	91147	broad.mit.edu	37	chr8	94800075	94800075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttcttttaaatagtgtCcaccttgtacccaacacaat	3	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1414-1416)gtC>gtT		transmembrane protein 67							154	145	148					8																	94800075		2203	4300	6503	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94800075C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1416C>T	8.37:g.94800075C>T						TMEM67_ENST00000409623.3_Silent_p.V391V	p.V472V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		14	1474	+	Breast(36;4.14e-07)		472					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.1416C>T	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	0.834	-0.744151	0.03088	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.59	3.39	0.38822	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-9.2279	6.1893	0.20516	0.1666:0.6377:0.0:0.1957	.	.	.	.	S	80	.	.	P	+	1	0	TMEM67	94869251	0.767000	0.28508	0.964000	0.40570	0.236000	0.25371	1.234000	0.32660	1.305000	0.44909	0.557000	0.71058	CCA		0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		75	423	0	0	0	1	0	75	423					T	94800075	C	T	94800075	2	4	79	1	0	0	0	0	0	0	0	1	16248	842	30	2		2	TMEM67	8	94800075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86400	94800075	51563947	9541	19858											
PDP1	54704	broad.mit.edu	37	chr8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggaggctctaattaatGccttcaagaggcttgataat	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000297598.4	+	2	984	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000396200.3_Missense_Mutation_p.A264S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	239					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(790-792)Gcc>Tcc		pyruvate dehyrogenase phosphatase catalytic subunit 1							120	121	121					8																	94935002		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935002G>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.715G>T	8.37:g.94935002G>T	ENSP00000297598:p.Ala239Ser					PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000297598.4_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_Missense_Mutation_p.A239S	p.A264S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1066	+			239					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.790G>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732938	0.30684	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.158082	0.56097	D	0.000028	T	0.18882	0.0453	L	0.43646	1.37	0.80722	D	1	B;B	0.31459	0.324;0.212	B;B	0.34873	0.191;0.191	T	0.02004	-1.1231	10	0.30078	T	0.28	-9.2349	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	290;239	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	239;239;264;239	ENSP00000297598:A239S;ENSP00000428317:A239S;ENSP00000379503:A264S;ENSP00000430380:A239S	ENSP00000297598:A239S	A	+	1	0	PDP1	95004178	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.614000	0.74197	2.937000	0.99478	0.650000	0.86243	GCC		0.433	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		107	420	1	0	3.77761e-39	1	4.56358e-39	107	420					T	94935002	G	T	94935002	3	4	79	1	0	0	0	0	1	0	0	0	11727	1319	46	3	898	3	PDP1	8	94935002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134927	94935002	51429020	9542	19859											
PDP1	54704	broad.mit.edu	37	chr8	94935883	94935883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctcatgttgtaggggcGtatcaaaaccaagaatagtg	10	6	2	1	rs535568386	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000297598.4	+	2	1865	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000396200.3_Silent_p.A557A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	532					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353													G|||	3	0.000599042	0.0	0.0	5008	,	,		22979	0.0		0.0	False		,,,				2504	0.0031					ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1669-1671)gcG>gcA		pyruvate dehyrogenase phosphatase catalytic subunit 1							76	76	76					8																	94935883		2203	4300	6503	SO:0001819	synonymous_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935883G>A	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1596G>A	8.37:g.94935883G>A						PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000297598.4_Silent_p.A532A|PDP1_ENST00000520728.1_Silent_p.A532A	p.A557A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1947	+			532					B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.1671G>A	CCDS6259.1																																																																																				0.353	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		72	335	0	0	0	1	0	72	335					A	94935883	G	A	94935883	2	1	79	1	0	0	0	0	0	0	0	1	11727	1132	40	1		1	PDP1	8	94935883	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	881	94935883	51428139	9543	19860											
CDH17	1015	broad.mit.edu	37	chr8	95182635	95182635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcttacccagtcgttcAttctcctggacctcaaatac	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			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)			CCAGTCGTTCATTCTCCTGGA	0.443																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1054-1056)aaT>aaC		cadherin 17, LI cadherin (liver-intestine)							153	140	145					8																	95182635		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95182635A>G	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.1056T>C	8.37:g.95182635A>G						CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1180	-	Breast(36;4.65e-06)		352			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1056T>C	CCDS6260.1																																																																																				0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		125	534	0	0	0	1	0	125	534					G	95182635	A	G	95182635	2	3	79	1	0	0	0	0	0	0	0	1	3111	214	8	4		4	CDH17	8	95182635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246752	95182635	51181387	9544	19861											
CDH17	1015	broad.mit.edu	37	chr8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggagattgtgagtagatCttgtttccctgtccaaggct	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	89	Cadherin 1. {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)			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)			GTGAGTAGATCTTGTTTCCCT	0.463																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(265-267)aGa>aTa		cadherin 17, LI cadherin (liver-intestine)							227	216	220					8																	95189834		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189834C>A	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.266G>T	8.37:g.95189834C>A	ENSP00000027335:p.Arg89Ile					CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	390	-	Breast(36;4.65e-06)		89			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.266G>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102864	0.20632	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60299	0.2;4.58;0.2;0.69	6.04	2.23	0.28157	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	L	0.39326	1.205	0.27924	N	0.93813	P;D	0.57257	0.836;0.979	B;P	0.51806	0.308;0.68	T	0.48364	-0.9042	10	0.66056	D	0.02	-11.6902	5.5827	0.17258	0.0:0.5728:0.1352:0.292	.	89;89	E7EN24;Q12864	.;CAD17_HUMAN	I	89	ENSP00000027335:R89I;ENSP00000392811:R89I;ENSP00000401468:R89I;ENSP00000428189:R89I	ENSP00000027335:R89I	R	-	2	0	CDH17	95259010	0.969000	0.33509	0.531000	0.27976	0.134000	0.20937	0.796000	0.26986	0.444000	0.26612	-0.251000	0.11542	AGA		0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		90	488	1	0	9.86815e-39	1	1.19053e-38	90	488					A	95189834	C	A	95189834	3	1	79	1	0	0	0	0	1	0	0	0	3111	913	32	3	2292	3	CDH17	8	95189834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7199	95189834	51174188	9545	19862											
RAD54B	25788	broad.mit.edu	37	chr8	95390544	95390544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagatgtcttggtgaggtcGacaactgccccacaaagacc	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	793	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGGTGAGGTCGACAACTGCCC	0.353								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2377-2379)gtC>gtT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							95	84	87					8																	95390544		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95390544G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2379C>T	8.37:g.95390544G>A							p.V793V	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		14	2503	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.2379C>T	CCDS6262.1																																																																																				0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		26	134	0	0	0	1	0	26	134					A	95390544	G	A	95390544	2	1	79	1	0	0	0	0	0	0	0	1	13042	1045	37	1		1	RAD54B	8	95390544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200710	95390544	50973478	9546	19863											
DPY19L4	286148	broad.mit.edu	37	chr8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctactcaaaatatgggCgattttgtcatgaggtcaaa	8	7	3	1	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	685						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294													C|||	3	0.000599042	0.0	0.0	5008	,	,		18465	0.0		0.003	False		,,,				2504	0.0					ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(2053-2055)Cga>Tga		dpy-19-like 4 (C. elegans)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	92	102	99		2053	2.3	0.9	8	dbSNP_134	99	3,8593	3.0+/-9.4	0,3,4295	yes	stop-gained	DPY19L4	NM_181787.2		0,4,6497	TT,TC,CC		0.0349,0.0227,0.0308		685/724	95802019	4,12998	2203	4298	6501	SO:0001587	stop_gained	286148					integral to membrane		g.chr8:95802019C>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2053C>T	8.37:g.95802019C>T	ENSP00000389630:p.Arg685*						p.R685*	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			19	2152	+	Breast(36;3.85e-06)		685					Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	37	c.2053C>T	CCDS34924.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	37	6.156228	0.97334	2.27E-4	3.49E-4	ENSG00000156162	ENST00000414645	.	.	.	5.19	2.33	0.28932	.	0.060745	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1931	14.719	0.69291	0.3827:0.6173:0.0:0.0	.	.	.	.	X	685	.	ENSP00000389630:R685X	R	+	1	2	DPY19L4	95871195	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	1.520000	0.35899	0.238000	0.21222	0.557000	0.71058	CGA		0.294	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		73	477	0	0	0	1	0	73	477					T	95802019	C	T	95802019	4	4	79	1	0	0	0	0	0	1	0	0	4759	760	27	1	2127	1	DPY19L4	8	95802019	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411475	95802019	50562003	9547	19864											
INTS8	55656	broad.mit.edu	37	chr8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagctgggacagggcaggCaggagagagaccgccatccg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A630V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	630					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGGGCAGGCAGGAGAGAGA	0.468																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1888-1890)gCa>gTa		integrator complex subunit 8							110	101	104					8																	95869141		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95869141C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1889C>T	8.37:g.95869141C>T	ENSP00000430338:p.Ala630Val					INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	p.A630V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			15	2022	+	Breast(36;1.05e-06)		630					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1889C>T	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402040|2.402040	0.42613|0.42613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.272174|.	0.36134|.	N|.	0.002773|.	T|.	0.37019|.	0.0988|.	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999848|0.999848	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.16289|.	0.015;0.015|.	T|.	0.29822|.	-0.9999|.	9|.	0.54805|.	T|.	0.06|.	-0.7634|-0.7634	19.7866|19.7866	0.96442|0.96442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	630;630|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	V|X	630|452	.|.	ENSP00000343274:A630V|.	A|Q	+|+	2|1	0|0	INTS8|INTS8	95938317|95938317	0.002000|0.002000	0.14202|0.14202	0.414000|0.414000	0.26521|0.26521	0.813000|0.813000	0.45954|0.45954	1.312000|1.312000	0.33574|0.33574	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		89	392	0	0	0	1	0	89	392					T	95869141	C	T	95869141	3	4	79	1	0	0	0	0	1	0	0	0	7814	710	25	2	1947	2	INTS8	8	95869141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67122	95869141	50494881	9548	19865											
INTS8	55656	broad.mit.edu	37	chr8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagatattcctcttcGtcaagttatagctgaggaat	7	7	2	2	rs375337415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	656					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTCCTCTTCGTCAAGTTATA	0.343																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1966-1968)cGt>cAt		integrator complex subunit 8		G	HIS/ARG	0,4406		0,0,2203	160	145	150		1967	5.8	1	8		150	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS8	NM_017864.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	656/996	95871751	1,13003	2203	4299	6502	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95871751G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1967G>A	8.37:g.95871751G>A	ENSP00000430338:p.Arg656His					INTS8_ENST00000447247.1_Missense_Mutation_p.R656H|INTS8_ENST00000520845.1_3'UTR	p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			16	2100	+	Breast(36;1.05e-06)		656					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1967G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179313|5.179313	0.94846|0.94846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.73052|0.73052	-0.4104|-0.4104	9|5	0.87932|.	D|.	0|.	-0.2176|-0.2176	20.0175|20.0175	0.97485|0.97485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;656|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|I	656|478	.|.	ENSP00000343274:R656H|.	R|V	+|+	2|1	0|0	INTS8|INTS8	95940927|95940927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.230000|9.230000	0.95299|0.95299	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		40	211	0	0	0	1	0	40	211					A	95871751	G	A	95871751	3	1	79	1	0	0	0	0	1	0	0	0	7814	1145	40	1	2029	1	INTS8	8	95871751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2610	95871751	50492271	9549	19866											
CCNE2	9134	broad.mit.edu	37	chr8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgaagcatatttttatTtatatccttttgtgtcaaca	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	181					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(541-543)Aat>Cat		cyclin E2							61	66	65					8																	95900214		2196	4271	6467	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95900214T>G	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.541A>C	8.37:g.95900214T>G	ENSP00000429089:p.Asn181His					CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|CCNE2_ENST00000523476.1_5'UTR	p.N181H			O96020	CCNE2_HUMAN			7	793	-	Breast(36;8.75e-07)		181					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.541A>C	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.828|8.828	0.939186|0.939186	0.18281|0.18281	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.246397|.	0.50627|.	D|.	0.000115|.	T|.	0.55955|.	0.1953|.	L|L	0.28649|0.28649	0.875|0.875	0.46874|0.46874	D|D	0.999233|0.999233	B;D|.	0.67145|.	0.029;0.996|.	B;P|.	0.62014|.	0.065;0.897|.	T|.	0.52578|.	-0.8557|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.8419|15.8419	0.78852|0.78852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;181|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	H|Y	181;181;73;181|44	ENSP00000429089:N181H;ENSP00000309181:N181H;ENSP00000379437:N181H|.	ENSP00000309181:N181H|.	N|X	-|-	1|3	0|2	CCNE2|CCNE2	95969390|95969390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.056000|2.056000	0.41355|0.41355	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.294	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		51	185	0	0	0	1	0	51	185					G	95900214	T	G	95900214	3	3	79	1	0	0	0	0	1	0	0	0	2930	1841	64	4	697	4	CCNE2	8	95900214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28463	95900214	50463808	9550	19867											
UQCRB	7381	broad.mit.edu	37	chr8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttttacatcttcatcctCgtatattgtatcatctcgca	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000287022.5	-	3	221	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	40					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCTTCATCCTCGTATATTGTA	0.363																																						ENST00000287022.5																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(118-120)Gag>Aag		ubiquinol-cytochrome c reductase binding protein							97	91	93					8																	97244142		2203	4300	6503	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97244142C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.118G>A	8.37:g.97244142C>T	ENSP00000287022:p.Glu40Lys					UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K	p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN			3	221	-	Breast(36;5.16e-05)		40					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.118G>A	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500402	0.64298	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	.	0.098626	0.64402	D	0.000002	T	0.61451	0.2348	H	0.95574	3.69	0.80722	D	1	P	0.37688	0.605	B	0.32211	0.142	T	0.73968	-0.3815	10	0.66056	D	0.02	-11.4134	17.3502	0.87321	0.0:1.0:0.0:0.0	.	40	P14927	QCR7_HUMAN	K	40;8;40;40	ENSP00000287022:E40K;ENSP00000429787:E8K;ENSP00000430494:E40K;ENSP00000430560:E40K	ENSP00000287022:E40K	E	-	1	0	UQCRB	97313318	1.000000	0.71417	0.071000	0.20095	0.185000	0.23345	7.522000	0.81844	2.534000	0.85438	0.591000	0.81541	GAG		0.363	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		45	250	0	0	0	1	0	45	250					T	97244142	C	T	97244142	3	4	79	1	0	0	0	0	1	0	0	0	17072	893	31	1	225	1	UQCRB	8	97244142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1343928	97244142	49119880	9551	19868											
PTDSS1	9791	broad.mit.edu	37	chr8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgcaggtccgttcactCgacctcatccagccttatgg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(283-285)Cga>Tga		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						156	158	157					8																	97296348		2203	4300	6503	SO:0001587	stop_gained	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97296348C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.283C>T	8.37:g.97296348C>T	ENSP00000430548:p.Arg95*					PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	p.R95*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			3	609	+	Breast(36;6.18e-05)		95					E5RFC5|Q9BUQ5	Nonsense_Mutation	SNP	ENST00000517309.1	37	c.283C>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	40	8.117612	0.98662	.	.	ENSG00000156471	ENST00000517309	.	.	.	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	.	.	.	X	95	.	ENSP00000430548:R95X	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA		0.353	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			89	393	0	0	0	1	0	89	393					T	97296348	C	T	97296348	4	4	79	1	0	0	0	0	0	1	0	0	12783	876	31	1	293	1	PTDSS1	8	97296348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52206	97296348	49067674	9552	19869											
PGCP	10404	broad.mit.edu	37	chr8	97978249	97978249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctttatatcatgggaAgcactctcacttattaaaga	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97978249A>G	ENST00000220763.5	+	5	1146	c.936A>G	c.(934-936)gaA>gaG	p.E312E		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	312					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TATCATGGGAAGCACTCTCAC	0.393																																						ENST00000220763.5																			0											c.(934-936)gaA>gaG		carboxypeptidase Q							94	92	92					8																	97978249		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978249A>G	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.936A>G	8.37:g.97978249A>G							p.E312E	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			5	1146	+			312					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.936A>G	CCDS6273.1																																																																																				0.393	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		5	183	0	0	0	1	0	5	183					G	97978249	A	G	97978249	2	3	79	1	0	0	0	0	0	0	0	1	11828	69	3	4		4	PGCP	8	97978249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	681901	97978249	48385773	9553	19870											
TSPYL5	85453	broad.mit.edu	37	chr8	98289747	98289747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctccgagagagatgcgGccttccccgggccgggcctg	17	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	ENST00000322128.3	-	1	429	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	109					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAGAGATGCGGCCTTCCCCGG	0.741																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(325-327)gCc>gTc		TSPY-like 5							5	6	5					8																	98289747		1875	3684	5559	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289747G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.326C>T	8.37:g.98289747G>A	ENSP00000322802:p.Ala109Val						p.A109V	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	429	-	Breast(36;2.56e-06)		109					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.326C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732158	0.15507	.	.	ENSG00000180543	ENST00000322128	T	0.19105	2.17	4.05	2.25	0.28309	.	0.840683	0.09688	N	0.768828	T	0.18173	0.0436	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23940	-1.0174	10	0.56958	D	0.05	-2.2082	6.8549	0.24034	0.2072:0.0:0.7928:0.0	.	109	Q86VY4	TSYL5_HUMAN	V	109	ENSP00000322802:A109V	ENSP00000322802:A109V	A	-	2	0	TSPYL5	98358923	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.707000	0.25704	0.649000	0.30751	0.650000	0.86243	GCC		0.741	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		21	81	0	0	0	1	0	21	81					A	98289747	G	A	98289747	3	1	79	1	0	0	0	0	1	0	0	0	16715	1203	42	2	931	2	TSPYL5	8	98289747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311498	98289747	48074275	9554	19871											
LAPTM4B	55353	broad.mit.edu	37	chr8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgctatggctacttacGgagcgtacaaggtaagccgc	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000521545.2	+	3	508	c.274G>A	c.(274-276)Gga>Aga	p.G92R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.G183R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	236					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(547-549)Gga>Aga		lysosomal protein transmembrane 4 beta							126	116	120					8																	98827618		2203	4300	6503	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98827618G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.274G>A	8.37:g.98827618G>A	ENSP00000428409:p.Gly92Arg					LAPTM4B_ENST00000521545.2_Missense_Mutation_p.G92R	p.G183R	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		3	1227	+	Breast(36;1.59e-06)		236					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872607	0.91587	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.47177	0.85;0.85	5.81	5.81	0.92471	.	0.055694	0.64402	D	0.000001	T	0.72906	0.3519	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.72032	D	0.01	-12.4055	16.9823	0.86332	0.0:0.0:1.0:0.0	.	236	Q86VI4	LAP4B_HUMAN	R	183;229;92	ENSP00000402301:G183R;ENSP00000428409:G92R	ENSP00000367995:G229R	G	+	1	0	LAPTM4B	98896794	1.000000	0.71417	0.939000	0.37840	0.756000	0.42949	8.852000	0.92215	2.738000	0.93877	0.557000	0.71058	GGA		0.418	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			41	255	0	0	0	1	0	41	255					A	98827618	G	A	98827618	3	1	79	1	0	0	0	0	1	0	0	0	8656	1117	39	1	557	1	LAPTM4B	8	98827618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537871	98827618	47536404	9555	19872											
MATN2	4147	broad.mit.edu	37	chr8	99030295	99030295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgactcatacacgtgCgagtgcttggagggattccg	14	8	1	2	rs374356192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000520016.1	+	11	1894	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000254898.5_Silent_p.C590C			O00339	MATN2_HUMAN	matrilin 2	590	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			CATACACGTGCGAGTGCTTGG	0.507																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1768-1770)tgC>tgT		matrilin 2		C	,	0,4174		0,0,2087	212	219	217		1770,1770	5.2	1	8		217	1,8435		0,1,4217	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	,	590/957,590/938	99030295	1,12609	2087	4218	6305	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99030295C>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.1770C>T	8.37:g.99030295C>T						MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000520016.1_Silent_p.C590C|MATN2_ENST00000522025.2_Silent_p.C306C	p.C590C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		12	2001	+	Breast(36;1.43e-06)		590			EGF-like 9.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.1770C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554985	0.03967	0.0	1.19E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2589	12.2666	0.54681	0.0:0.9233:0.0:0.0767	.	.	.	.	X	373;65	.	.	R	+	1	2	MATN2	99099471	0.093000	0.21703	1.000000	0.80357	0.014000	0.08584	0.633000	0.24598	2.691000	0.91804	0.655000	0.94253	CGA		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			172	768	0	0	0	1	0	172	768					T	99030295	C	T	99030295	2	4	79	1	0	0	0	0	0	0	0	1	9375	776	27	1		1	MATN2	8	99030295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202677	99030295	47333727	9556	19873											
MATN2	4147	broad.mit.edu	37	chr8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcactctgagaaacttcaActcagccaaagacatgaaaa	6	10	4	3	rs564459016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000520016.1	+	13	2262	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S			O00339	MATN2_HUMAN	matrilin 2	713	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)			AGAAACTTCAACTCAGCCAAA	0.478													A|||	1	0.000199681	0.0	0.0	5008	,	,		18754	0.0		0.0	False		,,,				2504	0.001					ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2137-2139)aAc>aGc		matrilin 2							63	63	63					8																	99039839		1862	4108	5970	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99039839A>G	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.2138A>G	8.37:g.99039839A>G	ENSP00000430487:p.Asn713Ser					MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000520016.1_Missense_Mutation_p.N713S|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|RPL30_ENST00000518164.1_Intron	p.N713S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		14	2369	+	Breast(36;1.43e-06)		713			VWFA 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2138A>G	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	4.471	0.087380	0.08583	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.24	1.14	0.20703	von Willebrand factor, type A (3);	0.432631	0.23966	N	0.042813	T	0.56262	0.1973	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50110	-0.8866	10	0.02654	T	1	-9.1721	6.1465	0.20289	0.279:0.12:0.6009:0.0	.	713;713;713	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	S	713;713;672;672;429;713	ENSP00000429977:N713S;ENSP00000254898:N713S;ENSP00000430221:N672S;ENSP00000429010:N429S;ENSP00000430487:N713S	ENSP00000254898:N713S	N	+	2	0	MATN2	99109015	0.934000	0.31675	0.995000	0.50966	0.992000	0.81027	0.216000	0.17585	0.233000	0.21120	0.454000	0.30748	AAC		0.478	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			44	177	0	0	0	1	0	44	177					G	99039839	A	G	99039839	3	3	79	1	0	0	0	0	1	0	0	0	9375	43	2	4	2188	4	MATN2	8	99039839	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9544	99039839	47324183	9557	19874											
POP1	10940	broad.mit.edu	37	chr8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgctagaatttaaccgtaGacaaaagaagaacatttggt	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	195					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(583-585)aGa>aAa		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							68	65	66					8																	99142303		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142303G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.584G>A	8.37:g.99142303G>A	ENSP00000385787:p.Arg195Lys					POP1_ENST00000349693.3_Missense_Mutation_p.R195K	p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	665	+	Breast(36;1.78e-06)		195					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.584G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679774	0.96774	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.59502	0.26;0.26	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.133902	0.46145	D	0.000318	T	0.73931	0.3650	M	0.66297	2.02	0.54753	D	0.999988	D	0.54207	0.965	D	0.66497	0.944	T	0.71768	-0.4493	9	.	.	.	0.8959	17.8794	0.88835	0.0:0.0:1.0:0.0	.	195	Q99575	POP1_HUMAN	K	195	ENSP00000385787:R195K;ENSP00000339529:R195K	.	R	+	2	0	POP1	99211479	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	AGA		0.443	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		59	268	0	0	0	1	0	59	268					A	99142303	G	A	99142303	3	1	79	1	0	0	0	0	1	0	0	0	12293	942	33	2	598	2	POP1	8	99142303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102464	99142303	47221719	9558	19875											
NIPAL2	79815	broad.mit.edu	37	chr8	99207043	99207043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatacaccaaggaatgacaGaaaacacctgtaaggataat	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	318						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308																																						ENST00000341166.3																			0				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						c.(952-954)Ctg>Ttg		NIPA-like domain containing 2							39	39	39					8																	99207043		2201	4293	6494	SO:0001819	synonymous_variant	79815					integral to membrane		g.chr8:99207043G>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.952C>T	8.37:g.99207043G>A						NIPAL2_ENST00000430223.2_Silent_p.L318L|NIPAL2_ENST00000520545.1_5'UTR	p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN			10	1207	-			318					A2RTY8	Silent	SNP	ENST00000341166.3	37	c.952C>T	CCDS6278.1																																																																																				0.308	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		19	98	0	0	0	1	0	19	98					A	99207043	G	A	99207043	2	1	79	1	0	0	0	0	0	0	0	1	10467	933	33	2		2	NIPAL2	8	99207043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64740	99207043	47156979	9559	19876											
KCNS2	3788	broad.mit.edu	37	chr8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgagcagggtcttcaGcatcctgtccatcctggtgg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	190					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGGTCTTCAGCATCCTGTCC	0.617																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(568-570)aGc>aAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							62	60	61					8																	99440776		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440776G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.569G>A	8.37:g.99440776G>A	ENSP00000287042:p.Ser190Asn					KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	919	+	Breast(36;2.4e-06)		190					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.569G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300239	0.60195	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97303	-4.33;-4.33	5.79	5.79	0.91817	.	0.041854	0.85682	D	0.000000	D	0.95500	0.8538	M	0.64170	1.965	0.39189	D	0.962921	B	0.33694	0.421	B	0.29524	0.103	D	0.95547	0.8617	10	0.87932	D	0	.	15.5109	0.75782	0.0:0.1377:0.8623:0.0	.	190	Q9ULS6	KCNS2_HUMAN	N	190	ENSP00000287042:S190N;ENSP00000430712:S190N	ENSP00000287042:S190N	S	+	2	0	KCNS2	99509952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.735000	0.93741	0.563000	0.77884	AGC		0.617	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		63	291	0	0	0	1	0	63	291					A	99440776	G	A	99440776	3	1	79	1	0	0	0	0	1	0	0	0	8119	971	34	2	571	2	KCNS2	8	99440776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233733	99440776	46923246	9560	19877											
OSR2	116039	broad.mit.edu	37	chr8	99961621	99961621	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggactgggtagccccatCtcgggcctcagtaaattgac	11	13	2	1	rs368868923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	147					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(439-441)atC>atA		odd-skipped related transciption factor 2		C	,	1,3861		0,1,1930	102	111	108		441,441	1.5	1	8		108	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	OSR2	NM_001142462.1,NM_053001.2	,	0,1,6070	AA,AC,CC		0.0,0.0259,0.0082	,	147/313,147/277	99961621	1,12141	1931	4140	6071	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961621C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.441C>A	8.37:g.99961621C>A						OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I	p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	937	+	Breast(36;4.14e-07)		147					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.441C>A	CCDS47901.1																																																																																				0.542	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		31	855	1	0	1.75199e-13	1	1.89187e-13	31	855					A	99961621	C	A	99961621	2	1	79	1	0	0	0	0	0	0	0	1	11336	903	32	3		3	OSR2	8	99961621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	520845	99961621	46402401	9561	19878											
VPS13B	157680	broad.mit.edu	37	chr8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggtttcacataccttaCaaattcattgtttgattacc	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000358544.2	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	495					protein transport (GO:0015031)					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)			ACATACCTTACAAATTCATTG	0.328																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(1483-1485)aCa>aTa		vacuolar protein sorting 13 homolog B (yeast)							137	121	126					8																	100147882		2202	4300	6502	SO:0001583	missense	157680				protein transport			g.chr8:100147882C>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.1484C>T	8.37:g.100147882C>T	ENSP00000351346:p.Thr495Ile					VPS13B_ENST00000358544.2_Missense_Mutation_p.T495I|VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I	p.T495I			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		11	1595	+	Breast(36;3.73e-07)		495					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1484C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231371	0.79688	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78364	-1.17;-0.46;-0.46;-0.17	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.83229	0.5209	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.998;0.974	D	0.84951	0.0871	10	0.72032	D	0.01	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	495;495;495;495	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	I	495	ENSP00000347281:T495I;ENSP00000349685:T495I;ENSP00000351346:T495I;ENSP00000379318:T495I	ENSP00000347281:T495I	T	+	2	0	VPS13B	100217058	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.204000	0.77872	2.663000	0.90544	0.655000	0.94253	ACA		0.328	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		36	161	0	0	0	1	0	36	161					T	100147882	C	T	100147882	3	4	79	1	0	0	0	0	1	0	0	0	17244	478	17	2	1564	2	VPS13B	8	100147882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186261	100147882	46216140	9562	19879											
VPS13B	157680	broad.mit.edu	37	chr8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaattgaagtactgcaGcacatcattggtcaaatgtg	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000358544.2	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N|VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	862					protein transport (GO:0015031)					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)			AAGTACTGCAGCACATCATTG	0.433																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(2584-2586)aGc>aAc		vacuolar protein sorting 13 homolog B (yeast)							112	117	115					8																	100286495		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100286495G>A	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.2585G>A	8.37:g.100286495G>A	ENSP00000351346:p.Ser862Asn					VPS13B_ENST00000358544.2_Missense_Mutation_p.S862N|VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N	p.S862N			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		18	2696	+	Breast(36;3.73e-07)		862					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2585G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918911	0.73098	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.65	5.65	0.86999	.	0.057164	0.64402	D	0.000001	T	0.76737	0.4029	L	0.32530	0.975	0.51012	D	0.999903	D;B;B;D	0.67145	0.996;0.211;0.134;0.996	P;B;B;P	0.61070	0.883;0.13;0.061;0.883	T	0.76929	-0.2777	10	0.54805	T	0.06	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	862;862;862;862	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	862	ENSP00000349685:S862N;ENSP00000351346:S862N;ENSP00000379318:S862N	ENSP00000349685:S862N	S	+	2	0	VPS13B	100355671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.826000	0.97356	0.563000	0.77884	AGC		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		106	499	0	0	0	1	0	106	499					A	100286495	G	A	100286495	3	1	79	1	0	0	0	0	1	0	0	0	17244	971	34	2	2774	2	VPS13B	8	100286495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138613	100286495	46077527	9563	19880											
VPS13B	157680	broad.mit.edu	37	chr8	100454751	100454751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacaaaccagcatgccGggaacacttgtcctctgttt	9	12	1	0	rs367791771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100454751G>A	ENST00000358544.2	+	23	3444	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	VPS13B_ENST00000357162.2_Silent_p.P1111P|VPS13B_ENST00000395996.1_Silent_p.P1111P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1111					protein transport (GO:0015031)					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)			CCAGCATGCCGGGAACACTTG	0.443																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				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						c.(3331-3333)ccG>ccA		vacuolar protein sorting 13 homolog B (yeast)		G	,	0,4406		0,0,2203	142	132	135		3333,3333	-1	1	8		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1111/4023,1111/3998	100454751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100454751G>A	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.3333G>A	8.37:g.100454751G>A						VPS13B_ENST00000358544.2_Silent_p.P1111P|VPS13B_ENST00000357162.2_Silent_p.P1111P	p.P1111P			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3444	+	Breast(36;3.73e-07)		1111					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3333G>A	CCDS6280.1																																																																																				0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	409	0	0	0	1	0	8	409					A	100454751	G	A	100454751	2	1	79	1	0	0	0	0	0	0	0	1	17244	1103	39	1		1	VPS13B	8	100454751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168256	100454751	45909271	9564	19881											
VPS13B	157680	broad.mit.edu	37	chr8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacaactacaaaacttctaGatggcactcatcagcagcat	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport (GO:0015031)			p.D1440H(1)|p.D1415H(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)			AAAACTTCTAGATGGCACTCA	0.348																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.D1440H(1)|p.D1415H(1)	lung(2)	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						c.(4318-4320)Gat>Aat		vacuolar protein sorting 13 homolog B (yeast)							76	79	78					8																	100523350		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523350G>A	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.4318G>A	8.37:g.100523350G>A	ENSP00000351346:p.Asp1440Asn					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N	p.D1440N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4429	+	Breast(36;3.73e-07)		1440					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4318G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548074	0.65311	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.51398	0.1672	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56746	0.977;0.873;0.877	P;P;P	0.54499	0.754;0.599;0.494	T	0.51204	-0.8735	10	0.62326	D	0.03	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	N	1415;1440	ENSP00000349685:D1415N;ENSP00000351346:D1440N	ENSP00000349685:D1415N	D	+	1	0	VPS13B	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		68	342	0	0	0	1	0	68	342					A	100523350	G	A	100523350	3	1	79	1	0	0	0	0	1	0	0	0	17244	942	33	2	4622	2	VPS13B	8	100523350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68599	100523350	45840672	9565	19882											
VPS13B	157680	broad.mit.edu	37	chr8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatcttttagcatacggcGgcatcaagaaaggagagcaa	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport (GO:0015031)					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)			AGCATACGGCGGCATCAAGAA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(5032-5034)cGg>cAg		vacuolar protein sorting 13 homolog B (yeast)							76	77	77					8																	100587894		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100587894G>A	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.5033G>A	8.37:g.100587894G>A	ENSP00000351346:p.Arg1678Gln					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q	p.R1678Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		32	5144	+	Breast(36;3.73e-07)		1678					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5033G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		46	210	0	0	0	1	0	46	210					A	100587894	G	A	100587894	3	1	79	1	0	0	0	0	1	0	0	0	17244	1116	39	1	5349	1	VPS13B	8	100587894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64544	100587894	45776128	9566	19883											
VPS13B	157680	broad.mit.edu	37	chr8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtgactccaacagccCtggctgcctgtaccagagtt	9	14	0	2	rs200065297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2461					protein transport (GO:0015031)					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)			TCCAACAGCCCTGGCTGCCTG	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(7381-7383)Ctg>Atg		vacuolar protein sorting 13 homolog B (yeast)							212	171	185					8																	100789061		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789061C>A	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.7381C>A	8.37:g.100789061C>A	ENSP00000351346:p.Leu2461Met					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M	p.L2461M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7492	+	Breast(36;3.73e-07)		2461					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7381C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653464	0.67472	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85556	-1.99;-2.0	5.52	4.64	0.57946	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89445	0.3726	10	0.72032	D	0.01	.	8.0438	0.30536	0.0:0.778:0.0:0.222	.	2436;2461	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2436;2461	ENSP00000349685:L2436M;ENSP00000351346:L2461M	ENSP00000349685:L2436M	L	+	1	2	VPS13B	100858237	0.679000	0.27596	1.000000	0.80357	0.998000	0.95712	0.751000	0.26348	2.583000	0.87209	0.650000	0.86243	CTG		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		65	612	1	0	1.53134e-21	1	1.72607e-21	65	612					A	100789061	C	A	100789061	3	1	79	1	0	0	0	0	1	0	0	0	17244	680	24	3	7733	3	VPS13B	8	100789061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201167	100789061	45574961	9567	19884											
FBXO43	286151	broad.mit.edu	37	chr8	101146101	101146101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctatttcttggctttgCtgctcctctactacattctt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101146101C>T	ENST00000428847.2	-	5	2372	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	686					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTGGCTTTGCTGCTCCTCTA	0.443																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(2056-2058)Gca>Aca		F-box protein 43							135	130	131					8																	101146101		1925	4132	6057	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146101C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2056G>A	8.37:g.101146101C>T	ENSP00000403293:p.Ala686Thr						p.A686T	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2372	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		686						Missense_Mutation	SNP	ENST00000428847.2	37	c.2056G>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442314	0.43326	.	.	ENSG00000156509	ENST00000428847	T	0.34072	1.38	5.15	3.28	0.37604	.	0.347019	0.29362	N	0.012376	T	0.27559	0.0677	L	0.54323	1.7	0.37515	D	0.917302	B	0.23540	0.087	B	0.17433	0.018	T	0.11397	-1.0589	10	0.21014	T	0.42	-5.4613	5.6701	0.17717	0.1365:0.6218:0.0:0.2417	.	686	Q4G163	FBX43_HUMAN	T	686	ENSP00000403293:A686T	ENSP00000403293:A686T	A	-	1	0	FBXO43	101215277	0.961000	0.32948	1.000000	0.80357	0.987000	0.75469	0.589000	0.23939	0.616000	0.30141	0.655000	0.94253	GCA		0.443	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		18	430	0	0	0	1	0	18	430					T	101146101	C	T	101146101	3	4	79	1	0	0	0	0	1	0	0	0	5777	797	28	2	74	2	FBXO43	8	101146101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357040	101146101	45217921	9568	19885											
SPAG1	6674	broad.mit.edu	37	chr8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagttcgtggttcaaacaGctgtcttcatgtaggcaagg	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	136					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGTTCAAACAGCTGTCTTCAT	0.388																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(406-408)aGc>aAc		sperm associated antigen 1							120	119	119					8																	101190150		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101190150G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.407G>A	8.37:g.101190150G>A	ENSP00000373450:p.Ser136Asn					SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N	p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	4	598	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	136					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.407G>A	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741393	0.15642	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.47	2.67	0.31697	.	0.713412	0.13896	N	0.355225	T	0.16896	0.0406	M	0.75264	2.295	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.005;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	-3.0269	6.9275	0.24424	0.2093:0.0:0.7907:0.0	.	136;136	Q07617;G3XAM3	SPAG1_HUMAN;.	N	136	ENSP00000427716:S136N;ENSP00000251809:S136N;ENSP00000428070:S136N;ENSP00000373450:S136N	ENSP00000251809:S136N	S	+	2	0	SPAG1	101259326	0.005000	0.15991	0.018000	0.16275	0.787000	0.44495	1.243000	0.32767	0.621000	0.30232	0.591000	0.81541	AGC		0.388	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		30	327	0	0	0	1	0	30	327					A	101190150	G	A	101190150	3	1	79	1	0	0	0	0	1	0	0	0	15027	971	34	2	417	2	SPAG1	8	101190150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44049	101190150	45173872	9569	19886											
SPAG1	6674	broad.mit.edu	37	chr8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagacaagtcacacttgTctaaaattgagacaagaata	6	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	189					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(565-567)Tct>Cct		sperm associated antigen 1							50	51	51					8																	101196260		2202	4291	6493	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101196260T>C	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.565T>C	8.37:g.101196260T>C	ENSP00000373450:p.Ser189Pro					SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P	p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	6	756	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	189					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.565T>C	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547190	0.27652	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.66	4.53	0.55603	.	2.230900	0.01467	N	0.016126	T	0.19005	0.0456	L	0.53249	1.67	0.33878	D	0.635808	B;B	0.15930	0.007;0.015	B;B	0.16289	0.007;0.015	T	0.46978	-0.9152	10	0.26408	T	0.33	-21.5674	3.8289	0.08865	0.0:0.2901:0.0:0.7099	.	189;189	Q07617;G3XAM3	SPAG1_HUMAN;.	P	189	ENSP00000427716:S189P;ENSP00000251809:S189P;ENSP00000428070:S189P;ENSP00000373450:S189P	ENSP00000251809:S189P	S	+	1	0	SPAG1	101265436	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.713000	0.47194	2.153000	0.67306	0.459000	0.35465	TCT		0.264	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		37	147	0	0	0	1	0	37	147					C	101196260	T	C	101196260	3	2	79	1	0	0	0	0	1	0	0	0	15027	1667	58	4	583	4	SPAG1	8	101196260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6110	101196260	45167762	9570	19887											
RNF19A	25897	broad.mit.edu	37	chr8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatgacttcgggtggCactgccatcatccacactac	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	641					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTCGGGTGGCACTGCCATCA	0.478											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1921-1923)Gcc>Acc		ring finger protein 19A, RBR E3 ubiquitin protein ligase							132	114	120					8																	101271380		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101271380C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1921G>A	8.37:g.101271380C>T	ENSP00000428968:p.Ala641Thr		OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	p.A641T	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2237	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		641					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1921G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195037	0.78902	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	2.54	0.30619	.	0.433072	0.26692	N	0.022992	T	0.78155	0.4239	L	0.36672	1.1	0.09310	N	0.999993	B	0.13594	0.008	B	0.16722	0.016	T	0.69206	-0.5206	10	0.52906	T	0.07	.	12.1983	0.54311	0.0:0.7788:0.0:0.2212	.	641	Q9NV58	RN19A_HUMAN	T	641	ENSP00000428968:A641T;ENSP00000342667:A641T	ENSP00000342667:A641T	A	-	1	0	RNF19A	101340556	1.000000	0.71417	0.084000	0.20598	0.800000	0.45204	2.623000	0.46435	0.778000	0.33520	0.585000	0.79938	GCC		0.478	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		124	506	0	0	0	1	0	124	506					T	101271380	C	T	101271380	3	4	79	1	0	0	0	0	1	0	0	0	13520	710	25	2	599	2	RNF19A	8	101271380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75120	101271380	45092642	9571	19888											
ANKRD46	157567	broad.mit.edu	37	chr8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagccactttccaaaaGccgcttggaataattaaagt	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520552.1	-	3	252	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000520311.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	31						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(91-93)Ctt>Ttt		ankyrin repeat domain 46							84	78	80					8																	101541971		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541971G>A	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.91C>T	8.37:g.101541971G>A	ENSP00000429015:p.Leu31Phe					ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000520552.1_Missense_Mutation_p.L31F	p.L31F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	894	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		31					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.91C>T	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222509	0.95139	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-0.29;-0.29	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.81914	0.934;0.995	D	0.90341	0.4359	10	0.72032	D	0.01	-18.5285	19.6107	0.95606	0.0:0.0:1.0:0.0	.	31;31	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	31	ENSP00000429015:L31F;ENSP00000335287:L31F;ENSP00000430056:L31F;ENSP00000428388:L31F;ENSP00000430827:L31F;ENSP00000351881:L31F;ENSP00000430357:L31F;ENSP00000430800:L31F;ENSP00000429647:L31F	ENSP00000335287:L31F	L	-	1	0	ANKRD46	101611147	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.425000	0.80255	2.648000	0.89879	0.655000	0.94253	CTT		0.458	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		54	299	0	0	0	1	0	54	299					A	101541971	G	A	101541971	3	1	79	1	0	0	0	0	1	0	0	0	674	971	34	2	607	2	ANKRD46	8	101541971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270591	101541971	44822051	9572	19889											
SNX31	169166	broad.mit.edu	37	chr8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgctcatctggaaaaCgatgtcctgggtctggctgt	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000428383.2_Missense_Mutation_p.V213I|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	312					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(934-936)Gtt>Att		sorting nexin 31							114	111	112					8																	101608911		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101608911C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.934G>A	8.37:g.101608911C>T	ENSP00000312368:p.Val312Ile					SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	p.V312I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		10	1084	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		312					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.934G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737498	0.03111	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22945	2.27;1.93	4.25	-2.68	0.06041	.	1.281140	0.05355	N	0.532635	T	0.08537	0.0212	N	0.00823	-1.155	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.32903	-0.9889	10	0.31617	T	0.26	0.8174	9.798	0.40746	0.0:0.4637:0.0:0.5363	.	213;312	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	312;213	ENSP00000312368:V312I;ENSP00000405024:V213I	ENSP00000312368:V312I	V	-	1	0	SNX31	101678087	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	0.098000	0.15189	-0.575000	0.05982	-1.155000	0.01812	GTT		0.502	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		51	435	0	0	0	1	0	51	435					T	101608911	C	T	101608911	3	4	79	1	0	0	0	0	1	0	0	0	14951	536	19	1	408	1	SNX31	8	101608911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66940	101608911	44755111	9573	19890											
SNX31	169166	broad.mit.edu	37	chr8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccacctcagaacttccaaGactaacataagggagttcaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	189					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(565-567)Ctt>Att		sorting nexin 31							90	89	90					8																	101624274		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101624274G>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.565C>A	8.37:g.101624274G>T	ENSP00000312368:p.Leu189Ile					SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	p.L189I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		7	715	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		189					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.565C>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310250	0.40895	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.17;1.81;0.79	5.92	5.92	0.95590	.	0.114287	0.37955	N	0.001861	T	0.40473	0.1118	L	0.49455	1.56	0.33742	D	0.619597	P;P	0.48503	0.778;0.911	B;B	0.37989	0.262;0.232	T	0.53215	-0.8470	10	0.20046	T	0.44	-13.6554	15.8344	0.78787	0.0:0.0:1.0:0.0	.	90;189	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	189;90;123	ENSP00000312368:L189I;ENSP00000405024:L90I;ENSP00000428210:L123I	ENSP00000312368:L189I	L	-	1	0	SNX31	101693450	1.000000	0.71417	0.136000	0.22124	0.435000	0.31806	4.973000	0.63763	2.822000	0.97130	0.650000	0.86243	CTT		0.438	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		42	235	1	0	1.06522e-23	1	1.21267e-23	42	235					T	101624274	G	T	101624274	3	4	79	1	0	0	0	0	1	0	0	0	14951	942	33	3	789	3	SNX31	8	101624274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15363	101624274	44739748	9574	19891											
GRHL2	79977	broad.mit.edu	37	chr8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgacctacctcaacaaAggacagttctatgccataac	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	272					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTCAACAAAGGACAGTTCT	0.502																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(814-816)aaA>aaC		grainyhead-like 2 (Drosophila)							87	73	78					8																	102585977		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585977A>C	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.816A>C	8.37:g.102585977A>C	ENSP00000251808:p.Lys272Asn					GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	p.K272N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1154	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		272					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.816A>C	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778126	0.70107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26957	1.7;1.7	5.8	0.79	0.18613	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.875;0.999	T	0.56306	-0.8001	10	0.87932	D	0	-27.0773	11.1202	0.48284	0.7395:0.0:0.2605:0.0	.	272;272	B4DL28;Q6ISB3	.;GRHL2_HUMAN	N	272;256;272	ENSP00000251808:K272N;ENSP00000379260:K256N	ENSP00000251808:K272N	K	+	3	2	GRHL2	102655153	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	1.433000	0.34947	-0.346000	0.08312	-1.162000	0.01777	AAA		0.502	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		47	218	0	0	0	1	0	47	218					C	102585977	A	C	102585977	3	2	79	1	0	0	0	0	1	0	0	0	6794	69	3	4	838	4	GRHL2	8	102585977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	961703	102585977	43778045	9575	19892											
GRHL2	79977	broad.mit.edu	37	chr8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgatggtggtcttcaGtgaagacaaaaacagagatg	14	4	2	4	rs376663921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	305					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGTCTTCAGTGAAGACAAA	0.488																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(913-915)aGt>aAt		grainyhead-like 2 (Drosophila)							125	106	112					8																	102589658		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102589658G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.914G>A	8.37:g.102589658G>A	ENSP00000251808:p.Ser305Asn					GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	p.S305N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		7	1252	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		305					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.914G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185364	0.94885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17370	2.28;2.28	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	P	0.35139	0.486	P	0.45538	0.484	T	0.01401	-1.1364	10	0.45353	T	0.12	-17.3025	19.4438	0.94838	0.0:0.0:1.0:0.0	.	305	Q6ISB3	GRHL2_HUMAN	N	305;289;305	ENSP00000251808:S305N;ENSP00000379260:S289N	ENSP00000251808:S305N	S	+	2	0	GRHL2	102658834	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.954000	0.87848	2.655000	0.90218	0.655000	0.94253	AGT		0.488	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		32	143	0	0	0	1	0	32	143					A	102589658	G	A	102589658	3	1	79	1	0	0	0	0	1	0	0	0	6794	1029	36	2	940	2	GRHL2	8	102589658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3681	102589658	43774364	9576	19893											
GRHL2	79977	broad.mit.edu	37	chr8	102611284	102611284	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctttttttaatgttacaGccgattacaaggagagcttt	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TAATGTTACAGCCGATTACAA	0.368																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e8-1		grainyhead-like 2 (Drosophila)							87	81	83					8																	102611284		2203	4300	6503	SO:0001630	splice_region_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102611284G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1004-1G>A	8.37:g.102611284G>A						GRHL2_ENST00000395927.1_Splice_Site		NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		8	1341	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)							A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	37		CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905809	0.92107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102680460	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.725000	0.98778	2.861000	0.98227	0.655000	0.94253	.		0.368	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Intron	14	158	0	0	0	1	0	14	158					A	102611284	G	A	102611284	5	1	79	1	0	0	0	0	0	0	1	0	6794	985	34	2	1033	2	GRHL2	8	102611284	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21626	102611284	43752738	9577	19894											
NCALD	83988	broad.mit.edu	37	chr8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcatgacctccgggcGcagcttgctgttctgtttcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000311028.3	-	5	403	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	9					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478																																						ENST00000395923.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(25-27)Cgc>Tgc		neurocalcin delta							54	57	56					8																	102731833		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731833G>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.25C>T	8.37:g.102731833G>A	ENSP00000310587:p.Arg9Cys					NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000311028.3_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C	p.R9C	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	484	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		9					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.25C>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135044	0.56828	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661;ENST00000522206;ENST00000524137;ENST00000522078	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.62266	1.93	0.80722	D	1	D	0.61080	0.989	B	0.39738	0.308	T	0.16958	-1.0385	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	9	P61601	NCALD_HUMAN	C	9	ENSP00000379256:R9C;ENSP00000310587:R9C;ENSP00000220931:R9C;ENSP00000428105:R9C;ENSP00000430476:R9C;ENSP00000428781:R9C;ENSP00000429466:R9C;ENSP00000429255:R9C;ENSP00000430731:R9C;ENSP00000430925:R9C;ENSP00000429522:R9C;ENSP00000428598:R9C;ENSP00000428312:R9C;ENSP00000429493:R9C;ENSP00000429245:R9C;ENSP00000430064:R9C;ENSP00000430534:R9C;ENSP00000428193:R9C;ENSP00000430365:R9C;ENSP00000428093:R9C;ENSP00000429296:R9C	ENSP00000220931:R9C	R	-	1	0	NCALD	102801009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.474000	0.83562	0.557000	0.71058	CGC		0.478	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			69	343	0	0	0	1	0	69	343					A	102731833	G	A	102731833	3	1	79	1	0	0	0	0	1	0	0	0	10243	1087	38	1	568	1	NCALD	8	102731833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120549	102731833	43632189	9578	19895											
RRM2B	50484	broad.mit.edu	37	chr8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttctacagcagcaaagGccaccactctttcccctggg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	189					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)		Cladribine(DB00242)	AGCAGCAAAGGCCACCACTCT	0.353								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(565-567)gCc>gTc	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							110	117	114					8																	103231160		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103231160G>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.566C>T	8.37:g.103231160G>A	ENSP00000251810:p.Ala189Val					RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron	p.A189V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		6	809	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		189					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.566C>T	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098649	0.94197	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912	D;D	0.97791	-4.54;-4.54	5.37	5.37	0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.099527	0.64402	D	0.000002	D	0.99260	0.9742	H	0.98256	4.185	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65443	0.776;0.935	D	0.98766	1.0726	10	0.87932	D	0	.	19.1474	0.93473	0.0:0.0:1.0:0.0	.	137;189	Q7LG56-2;Q7LG56	.;RIR2B_HUMAN	V	189;135;137	ENSP00000251810:A189V;ENSP00000379248:A137V	ENSP00000251810:A189V	A	-	2	0	RRM2B	103300336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.511000	0.84671	0.650000	0.86243	GCC		0.353	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			139	668	0	0	0	1	0	139	668					A	103231160	G	A	103231160	3	1	79	1	0	0	0	0	1	0	0	0	13733	1203	42	2	505	2	RRM2B	8	103231160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499327	103231160	43132862	9579	19896											
UBR5	51366	broad.mit.edu	37	chr8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagaggaatagagtgggaCgtaaagtcgagaaatgcaag	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000520539.1	-	59	8926	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000520820.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2774	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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)			TAGAGTGGGACGTAAAGTCGA	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				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						c.(8320-8322)Gtc>Atc		ubiquitin protein ligase E3 component n-recognin 5							194	178	183					8																	103266610		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266610C>T	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.8320G>A	8.37:g.103266610C>T	ENSP00000429084:p.Val2774Ile					UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I	p.V2774I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8926	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2774			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.8320G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	6.479	0.456561	0.12283	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	HECT (4);	0.000000	0.64402	D	0.000001	T	0.25644	0.0624	N	0.01771	-0.73	0.80722	D	1	B;B	0.31790	0.34;0.34	B;B	0.26517	0.045;0.07	T	0.35649	-0.9780	10	0.06099	T	0.92	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	2767;2774	E7EMW7;O95071	.;UBR5_HUMAN	I	2774;2773;502;2767	ENSP00000429084:V2774I;ENSP00000220959:V2773I;ENSP00000428693:V502I;ENSP00000427819:V2767I	ENSP00000220959:V2773I	V	-	1	0	UBR5	103335786	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.734000	0.84928	2.706000	0.92434	0.563000	0.77884	GTC		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		49	175	0	0	0	1	0	49	175					T	103266610	C	T	103266610	3	4	79	1	0	0	0	0	1	0	0	0	16959	536	19	1	83	1	UBR5	8	103266610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35450	103266610	43097412	9580	19897											
UBR5	51366	broad.mit.edu	37	chr8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactctcatacattacaGgatcaaaaaaagcaaaatca	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000520539.1	-	55	8324	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2573	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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)			ATACATTACAGGATCAAAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				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						c.(7717-7719)cCt>cAt		ubiquitin protein ligase E3 component n-recognin 5							96	92	93					8																	103274267		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103274267G>T	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.7718C>A	8.37:g.103274267G>T	ENSP00000429084:p.Pro2573His					UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H	p.P2573H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		55	8324	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2573			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7718C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301251	0.81136	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.87269	2.87	0.52501	D	0.999951	D;D	0.65815	0.995;0.995	D;D	0.79784	0.993;0.993	T	0.81309	-0.0991	10	0.59425	D	0.04	.	14.1163	0.65156	0.0:0.0:0.8496:0.1504	.	2566;2573	E7EMW7;O95071	.;UBR5_HUMAN	H	2573;2572;301;2566	ENSP00000429084:P2573H;ENSP00000220959:P2572H;ENSP00000428693:P301H;ENSP00000427819:P2566H	ENSP00000220959:P2572H	P	-	2	0	UBR5	103343443	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.580000	0.79431	CCT		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		64	271	1	0	7.75977e-34	1	9.21251e-34	64	271					T	103274267	G	T	103274267	3	4	79	1	0	0	0	0	1	0	0	0	16959	1000	35	3	701	3	UBR5	8	103274267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7657	103274267	43089755	9581	19898											
UBR5	51366	broad.mit.edu	37	chr8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattagtagcagtgagcaggCgataaagtagatcaagacga	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000520539.1	-	29	4376	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1257					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)			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)			AGTGAGCAGGCGATAAAGTAG	0.418																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				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						c.(3769-3771)cGc>cAc		ubiquitin protein ligase E3 component n-recognin 5							124	115	118					8																	103307906		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103307906C>T	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.3770G>A	8.37:g.103307906C>T	ENSP00000429084:p.Arg1257His					UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	p.R1257H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		29	4376	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1257					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3770G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883557	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.35854	1.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.60383	-0.7274	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1251;1257	E7EMW7;O95071	.;UBR5_HUMAN	H	1257;1257;1251	ENSP00000429084:R1257H;ENSP00000220959:R1257H;ENSP00000427819:R1251H	ENSP00000220959:R1257H	R	-	2	0	UBR5	103377082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.685000	0.91497	0.585000	0.79938	CGC		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	214	0	0	0	1	0	11	214					T	103307906	C	T	103307906	3	4	79	1	0	0	0	0	1	0	0	0	16959	768	27	1	4753	1	UBR5	8	103307906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33639	103307906	43056116	9582	19899											
UBR5	51366	broad.mit.edu	37	chr8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttcctttgactaaaaGgaactacacccctgaaaaca	4	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000520539.1	-	13	2099	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					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)			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)			TTGACTAAAAGGAACTACACC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				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						c.(1492-1494)cCt>cTt		ubiquitin protein ligase E3 component n-recognin 5							140	128	132					8																	103338880		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103338880G>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.1493C>T	8.37:g.103338880G>A	ENSP00000429084:p.Pro498Leu					UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	p.P498L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		13	2099	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		498					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1493C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738842	0.89573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.75477	-0.94;-0.94;-0.92	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.76727	2.345	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	D	0.87270	0.2285	10	0.87932	D	0	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	492;498	E7EMW7;O95071	.;UBR5_HUMAN	L	498;498;492	ENSP00000429084:P498L;ENSP00000220959:P498L;ENSP00000427819:P492L	ENSP00000220959:P498L	P	-	2	0	UBR5	103408056	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.373000	0.97168	2.566000	0.86566	0.460000	0.39030	CCT		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		28	178	0	0	0	1	0	28	178					A	103338880	G	A	103338880	3	1	79	1	0	0	0	0	1	0	0	0	16959	1000	35	2	7094	2	UBR5	8	103338880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30974	103338880	43025142	9583	19900											
UBR5	51366	broad.mit.edu	37	chr8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagggtaaccaaaatagCtaatgtcttcagaaaacatg	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000520539.1	-	8	1433	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	276					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)			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)			ACCAAAATAGCTAATGTCTTC	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				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						c.(826-828)aGc>aTc		ubiquitin protein ligase E3 component n-recognin 5							94	87	90					8																	103357683		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103357683C>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.827G>T	8.37:g.103357683C>A	ENSP00000429084:p.Ser276Ile					UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	p.S276I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		8	1433	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		276					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.827G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190150	0.94923	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.9;0.9;0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.32455	-0.9906	10	0.20046	T	0.44	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	276;276	E7EMW7;O95071	.;UBR5_HUMAN	I	276	ENSP00000429084:S276I;ENSP00000220959:S276I;ENSP00000427819:S276I	ENSP00000220959:S276I	S	-	2	0	UBR5	103426859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	AGC		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		26	121	1	0	1.85244e-09	1	1.95034e-09	26	121					A	103357683	C	A	103357683	3	1	79	1	0	0	0	0	1	0	0	0	16959	797	28	3	7780	3	UBR5	8	103357683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	103357683	43006339	9584	19901											
ODF1	4956	broad.mit.edu	37	chr8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaggtggacagagaaCtaaggcaactgagatgcatc	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGACAGAGAACTAAGGCAACT	0.488																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(64-66)Cta>Ata		outer dense fiber of sperm tails 1							271	206	228					8																	103564019		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564019C>A	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.64C>A	8.37:g.103564019C>A	ENSP00000285402:p.Leu22Ile						p.L22I	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	220	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		22					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.64C>A	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332159	0.60853	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	2.92	0.33932	.	0.000000	0.41938	D	0.000790	T	0.33904	0.0879	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.67548	0.952	T	0.11518	-1.0584	10	0.41790	T	0.15	-13.2892	9.486	0.38931	0.0:0.839:0.0:0.161	.	22	Q14990	ODFP1_HUMAN	I	22	ENSP00000285402:L22I	ENSP00000285402:L22I	L	+	1	2	ODF1	103633195	0.969000	0.33509	0.952000	0.39060	0.991000	0.79684	0.541000	0.23207	0.328000	0.23435	0.563000	0.77884	CTA		0.488	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			109	470	1	0	1.76403e-45	1	2.16332e-45	109	470					A	103564019	C	A	103564019	3	1	79	1	0	0	0	0	1	0	0	0	10868	564	20	3	66	3	ODF1	8	103564019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206336	103564019	42800003	9585	19902											
ODF1	4956	broad.mit.edu	37	chr8	103564276	103564276	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcgagagcttgccaaGtaaaataacttatttttaaa	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCTTGCCAAGtaaaataact	0.343																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.e1+1		outer dense fiber of sperm tails 1							51	50	50					8																	103564276		2203	4300	6503	SO:0001630	splice_region_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564276G>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.320+1G>T	8.37:g.103564276G>T								NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	476	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)							Q3SX72	Splice_Site	SNP	ENST00000285402.3	37		CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034235	0.54896	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF1	103633452	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.746000	0.62133	2.601000	0.87937	0.655000	0.94253	.		0.343	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		Intron	58	235	1	0	5.22555e-25	1	5.98653e-25	58	235					T	103564276	G	T	103564276	5	4	79	1	0	0	0	0	0	0	1	0	10868	1043	36	3	323	3	ODF1	8	103564276	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	103564276	42799746	9586	19903											
KLF10	7071	broad.mit.edu	37	chr8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgctgctgaaggggaaAacccaggagcaggggcaatg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000285407.6	-	3	1349	c.1049T>G	c.(1048-1050)tTt>tGt	p.F350C	KLF10_ENST00000395884.3_Missense_Mutation_p.F339C	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(1015-1017)tTt>tGt		Kruppel-like factor 10							82	93	89					8																	103663511		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103663511A>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1049T>G	8.37:g.103663511A>C	ENSP00000285407:p.Phe350Cys					KLF10_ENST00000285407.6_Missense_Mutation_p.F350C	p.F339C	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1918	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		350					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1016T>G	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690749	0.48097	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14640	2.49;2.56	5.5	5.5	0.81552	.	0.151335	0.47852	D	0.000211	T	0.23370	0.0565	M	0.64997	1.995	0.09310	N	1	B;D	0.61080	0.066;0.989	B;P	0.49361	0.041;0.608	T	0.13124	-1.0521	10	0.30854	T	0.27	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	350;339	Q13118;O75411	KLF10_HUMAN;.	C	350;339	ENSP00000285407:F350C;ENSP00000379222:F339C	ENSP00000285407:F350C	F	-	2	0	KLF10	103732687	0.947000	0.32204	0.187000	0.23214	0.987000	0.75469	3.309000	0.51903	2.209000	0.71365	0.533000	0.62120	TTT		0.517	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			95	397	0	0	0	1	0	95	397					C	103663511	A	C	103663511	3	2	79	1	0	0	0	0	1	0	0	0	8368	14	1	4	401	4	KLF10	8	103663511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99235	103663511	42700511	9587	19904											
KLF10	7071	broad.mit.edu	37	chr8	103667818	103667818	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgctggagagaggcaccGaagttgagcatggttggctg	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F	KLF10_ENST00000395884.3_5'Flank	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	4					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000285407.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(10-12)ttC>ttT		Kruppel-like factor 10							78	72	74					8																	103667818		2203	4300	6503	SO:0001819	synonymous_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103667818G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.12C>T	8.37:g.103667818G>A							p.F4F	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		1	312	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		4					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	c.12C>T	CCDS6294.1																																																																																				0.657	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			29	167	0	0	0	1	0	29	167					A	103667818	G	A	103667818	2	1	79	1	0	0	0	0	0	0	0	1	8368	1049	37	1		1	KLF10	8	103667818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4307	103667818	42696204	9588	19905											
AZIN1	51582	broad.mit.edu	37	chr8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcgagtgtaaatgcagaaGacacatagtagcttccgggt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	278					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(832-834)tCt>tTt		antizyme inhibitor 1							84	90	88					8																	103845355		2203	4300	6503	SO:0001583	missense	0				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103845355G>A	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.833C>T	8.37:g.103845355G>A	ENSP00000337180:p.Ser278Phe					AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		9	1996	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		278					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.833C>T	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534590	0.45073	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.050710	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55743	1.74	0.58432	D	0.999999	B	0.29341	0.242	B	0.39068	0.289	T	0.45527	-0.9255	10	0.56958	D	0.05	-14.8825	20.6208	0.99490	0.0:0.0:1.0:0.0	.	278	O14977	AZIN1_HUMAN	F	278	ENSP00000337180:S278F;ENSP00000321507:S278F	ENSP00000337180:S278F	S	-	2	0	AZIN1	103914531	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCT		0.338	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			58	287	0	0	0	1	0	58	287					A	103845355	G	A	103845355	3	1	79	1	0	0	0	0	1	0	0	0	1243	942	33	2	529	2	AZIN1	8	103845355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177537	103845355	42518667	9589	19906											
BAALC	79870	broad.mit.edu	37	chr8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagagcctcagctcagGccctctgacccagaaacaga	8	17	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000297574.6	+	3	531	c.392G>A	c.(391-393)gGc>gAc	p.G131D	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.G96D|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	131						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567																																						ENST00000309982.5																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(286-288)gGc>gAc		brain and acute leukemia, cytoplasmic							113	106	108					8																	104225273		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104225273G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.392G>A	8.37:g.104225273G>A	ENSP00000297574:p.Gly131Asp					RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000297574.6_Missense_Mutation_p.G131D|RP11-318M2.2_ENST00000523614.2_RNA	p.G96D	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	475	+			131					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.287G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.225051	0.79576	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.56275	0.59;0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.75777	-0.3198	9	0.87932	D	0	-15.2011	14.6078	0.68493	0.0:0.0:1.0:0.0	.	131;96	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	D	96;131	ENSP00000312457:G96D;ENSP00000297574:G131D	ENSP00000297574:G131D	G	+	2	0	BAALC	104294449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.291000	0.51764	2.578000	0.87016	0.655000	0.94253	GGC		0.567	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			111	466	0	0	0	1	0	111	466					A	104225273	G	A	104225273	3	1	79	1	0	0	0	0	1	0	0	0	1280	1203	42	2	293	2	BAALC	8	104225273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379918	104225273	42138749	9590	19907											
FZD6	8323	broad.mit.edu	37	chr8	104343602	104343602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgatattactgacactggCctggcacagagcaacaattt	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343602C>A	ENST00000358755.4	+	7	2303	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000522566.1_Silent_p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	662					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|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)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTGACACTGGCCTGGCACAGA	0.428																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1984-1986)ggC>ggA		frizzled family receptor 6							177	175	176					8																	104343602		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104343602C>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1986C>A	8.37:g.104343602C>A						FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000522566.1_Silent_p.G662G	p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		7	2303	+			662					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1986C>A	CCDS6298.1																																																																																				0.428	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		21	643	1	0	2.39556e-15	1	2.61601e-15	21	643					A	104343602	C	A	104343602	2	1	79	1	0	0	0	0	0	0	0	1	6161	726	26	3		3	FZD6	8	104343602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118329	104343602	42020420	9591	19908											
FZD6	8323	broad.mit.edu	37	chr8	104343656	104343657	+	Frame_Shift_Ins	INS	-	-	A													cttcagaaccaagcagcctcINSaaaggttccacatctctgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343656_104343657insA	ENST00000358755.4	+	7	2357_2358	c.2040_2041insA	c.(2041-2043)aaafs	p.K681fs	FZD6_ENST00000540287.1_Frame_Shift_Ins_p.K376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.K649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.K681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	681					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|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)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCAC	0.45																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2038-2043)ctaaggfs		frizzled family receptor 6																																				SO:0001589	frameshift_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104343656_104343657insA	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2043dupA	8.37:g.104343659_104343659dupA	ENSP00000351605:p.Lys681fs					FZD6_ENST00000540287.1_Frame_Shift_Ins_p.R376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.R649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.R681fs	p.R681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		7	2357_2358	+			681					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Frame_Shift_Ins	INS	ENST00000358755.4	37	c.2040_2041insA	CCDS6298.1																																																																																				0.45	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		118	450						118	450	---	---	---	---	A	104343657	-	A	104343656	7	5	79	1	0	1	1	0	0	0	0	0	6161	813	29	0	2062	0	FZD6	8	104343656	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	54	104343656	42020366	9592	19909											
CTHRC1	115908	broad.mit.edu	37	chr8	104387965	104387965	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttttctttctcattataGtataatggaatgtgcttaca	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000415886.2_Splice_Site|CTHRC1_ENST00000520337.1_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1						cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCTCATTATAGTATAATGGAA	0.478																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.e2-1		collagen triple helix repeat containing 1							86	99	95					8																	104387965		2203	4300	6503	SO:0001630	splice_region_variant	115908					collagen		g.chr8:104387965G>A	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.151-1G>A	8.37:g.104387965G>A						CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site		NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	292	+								G3V141|Q6UW91|Q8IX63	Splice_Site	SNP	ENST00000330295.5	37		CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843455	0.71488	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTHRC1	104457141	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	8.908000	0.92640	2.500000	0.84329	0.591000	0.81541	.		0.478	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	Intron	108	548	0	0	0	1	0	108	548					A	104387965	G	A	104387965	5	1	79	1	0	0	0	0	0	0	1	0	4021	1043	36	2	156	2	CTHRC1	8	104387965	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44309	104387965	41976057	9593	19910											
DCAF13	25879	broad.mit.edu	37	chr8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgctaccaaactggaaCgagtatttgcaaaaccattc	6	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	52					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)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAACTGGAACGAGTATTTGC	0.428																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(610-612)Cga>Tga		DDB1 and CUL4 associated factor 13							113	103	106					8																	104432575		2203	4300	6503	SO:0001587	stop_gained	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104432575C>T	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.610C>T	8.37:g.104432575C>T	ENSP00000297579:p.Arg204*					DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*	p.R204*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			2	887	+			52					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Nonsense_Mutation	SNP	ENST00000297579.5	37	c.610C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798807	0.90538	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	.	.	.	5.19	5.19	0.71726	.	0.111571	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3513	18.7083	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	204;48;48;52;48	.	ENSP00000297579:R204X	R	+	1	2	DCAF13	104501751	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.375000	0.59549	2.415000	0.81967	0.650000	0.86243	CGA		0.428	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		13	183	0	0	0	1	0	13	183					T	104432575	C	T	104432575	4	4	79	1	0	0	0	0	0	1	0	0	4277	528	19	1	616	1	DCAF13	8	104432575	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44610	104432575	41931447	9594	19911											
DCAF13	25879	broad.mit.edu	37	chr8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatataaaacgtatagctCgtcatcgacatctaccaaaa	4	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	392					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)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACGTATAGCTCGTCATCGACA	0.383																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1630-1632)Cgt>Tgt		DDB1 and CUL4 associated factor 13							131	124	126					8																	104453770		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104453770C>T	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.1630C>T	8.37:g.104453770C>T	ENSP00000297579:p.Arg544Cys						p.R544C	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			10	1907	+			392					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1630C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445274	0.63178	.	.	ENSG00000164934	ENST00000297579	T	0.76316	-1.01	5.42	5.42	0.78866	.	0.068684	0.64402	D	0.000017	D	0.90283	0.6961	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.92323	0.5867	8	0.87932	D	0	-16.4943	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	C	544	ENSP00000297579:R544C	ENSP00000297579:R544C	R	+	1	0	DCAF13	104522946	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.433000	0.44793	2.521000	0.84997	0.563000	0.77884	CGT		0.383	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		108	452	0	0	0	1	0	108	452					T	104453770	C	T	104453770	3	4	79	1	0	0	0	0	1	0	0	0	4277	884	31	1	1668	1	DCAF13	8	104453770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21195	104453770	41910252	9595	19912											
RIMS2	9699	broad.mit.edu	37	chr8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatcatttaagttataGggactccaacaggagaagtc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000436393.2	+	2	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			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)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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						c.(304-306)aGg>aAg		regulating synaptic membrane exocytosis 2							105	97	99					8																	104897708		1884	4109	5993	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897708G>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.215G>A	8.37:g.104897708G>A	ENSP00000390665:p.Arg72Lys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000436393.2_Missense_Mutation_p.R72K	p.R102K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	541	+			325			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.305G>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.89;1.87;1.88;1.85;2.27	5.31	5.31	0.75309	.	.	.	.	.	T	0.58906	0.2155	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D	0.63046	0.774;0.921;0.93;0.977;0.992	B;D;P;P;P	0.65233	0.416;0.933;0.712;0.652;0.854	T	0.60801	-0.7191	9	0.59425	D	0.04	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	325;72;102;102;294	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	294;325;294;325;102;102;102;102;72	ENSP00000427018:R294K;ENSP00000384892:R294K;ENSP00000425205:R102K;ENSP00000262231:R102K;ENSP00000423559:R102K;ENSP00000386228:R102K;ENSP00000390665:R72K	ENSP00000262231:R102K	R	+	2	0	RIMS2	104966884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.108000	0.89559	2.474000	0.83562	0.460000	0.39030	AGG		0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		44	325	0	0	0	1	0	44	325					A	104897708	G	A	104897708	3	1	79	1	0	0	0	0	1	0	0	0	13418	1000	35	2	1021	2	RIMS2	8	104897708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443938	104897708	41466314	9596	19913											
TM7SF4	81501	broad.mit.edu	37	chr8	105361526	105361526	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaacatctacatcaccaGacaatttgttcagtttgatg	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105361526G>A	ENST00000297581.2	+	2	795	c.746G>A	c.(745-747)aGa>aAa	p.R249K	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R249K	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	249					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TACATCACCAGACAATTTGTT	0.493																																						ENST00000297581.2																			0											c.(745-747)aGa>aAa		dendrocyte expressed seven transmembrane protein							100	95	97					8																	105361526		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361526G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.746G>A	8.37:g.105361526G>A	ENSP00000297581:p.Arg249Lys					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R249K	p.R249K	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	795	+			249					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.746G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020304	0.07634	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.27557	1.66;1.66	5.76	1.79	0.24919	Dendritic cell-specific transmembrane protein-like (1);	0.327641	0.37669	N	0.001987	T	0.09512	0.0234	N	0.01751	-0.74	0.09310	N	0.999992	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	9	.	.	.	-6.85	7.061	0.25125	0.4599:0.0:0.5401:0.0	.	249	Q9H295	TM7S4_HUMAN	K	249	ENSP00000297581:R249K;ENSP00000428869:R249K	.	R	+	2	0	TM7SF4	105430702	0.788000	0.28762	0.988000	0.46212	0.955000	0.61496	1.224000	0.32539	0.721000	0.32231	0.555000	0.69702	AGA		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		96	396	0	0	0	1	0	96	396					A	105361526	G	A	105361526	3	1	79	1	0	0	0	0	1	0	0	0	16028	942	33	2	748	2	TM7SF4	8	105361526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463818	105361526	41002496	9597	19914											
TM7SF4	81501	broad.mit.edu	37	chr8	105367128	105367128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggaactcaagatattatCcatgattcttcctttaatat	4	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105367128C>T	ENST00000297581.2	+	3	1102	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	351					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGATATTATCCATGATTCTT	0.348																																						ENST00000297581.2																			0											c.(1051-1053)atC>atT		dendrocyte expressed seven transmembrane protein							70	68	69					8																	105367128		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367128C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1053C>T	8.37:g.105367128C>T						DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	p.I351I	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1102	+			351					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1053C>T	CCDS6301.1																																																																																				0.348	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		40	165	0	0	0	1	0	40	165					T	105367128	C	T	105367128	2	4	79	1	0	0	0	0	0	0	0	1	16028	845	30	2		2	TM7SF4	8	105367128	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5602	105367128	40996894	9598	19915											
DPYS	1807	broad.mit.edu	37	chr8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttatccccagagccaacatCttctttgctccctaaaaaga	5	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	205					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAACATCTTCTTTGCTC	0.488																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(613-615)aaG>aaT		dihydropyrimidinase							53	50	51					8																	105456654		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456654C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.615G>T	8.37:g.105456654C>A	ENSP00000276651:p.Lys205Asn						p.K205N	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	747	-			205						Missense_Mutation	SNP	ENST00000351513.2	37	c.615G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026521	0.54683	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.67	3.85	0.44370	Amidohydrolase 1 (1);	0.049823	0.85682	N	0.000000	D	0.87601	0.6218	M	0.72576	2.205	0.40661	D	0.982129	B	0.27229	0.172	B	0.35655	0.207	D	0.84252	0.0478	10	0.87932	D	0	-8.3477	5.362	0.16093	0.1443:0.6411:0.0:0.2146	.	205	Q14117	DPYS_HUMAN	N	205	ENSP00000276651:K205N	ENSP00000276651:K205N	K	-	3	2	DPYS	105525830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.301000	0.43628	0.714000	0.32081	0.655000	0.94253	AAG		0.488	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		15	215	1	0	4.7546e-09	1	4.99022e-09	15	215					A	105456654	C	A	105456654	3	1	79	1	0	0	0	0	1	0	0	0	4762	912	32	3	968	3	DPYS	8	105456654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89526	105456654	40907368	9599	19916											
DPYS	1807	broad.mit.edu	37	chr8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatggacctgggcaattGctccaatttccttgcaccga	9	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	187					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCAATTGCTCCAATTTC	0.448																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(559-561)gCa>gTa		dihydropyrimidinase							120	111	114					8																	105459595		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459595G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.560C>T	8.37:g.105459595G>A	ENSP00000276651:p.Ala187Val						p.A187V	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	692	-			187						Missense_Mutation	SNP	ENST00000351513.2	37	c.560C>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583454	0.96578	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90844	-2.74;-2.65	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.050856	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	D	0.94741	0.7919	10	0.72032	D	0.01	-23.932	20.547	0.99278	0.0:0.0:1.0:0.0	.	187	Q14117	DPYS_HUMAN	V	187;134	ENSP00000276651:A187V;ENSP00000430246:A134V	ENSP00000276651:A187V	A	-	2	0	DPYS	105528771	1.000000	0.71417	0.933000	0.37362	0.954000	0.61252	9.476000	0.97823	2.850000	0.98022	0.650000	0.86243	GCA		0.448	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		62	261	0	0	0	1	0	62	261					A	105459595	G	A	105459595	3	1	79	1	0	0	0	0	1	0	0	0	4762	1319	46	2	1027	2	DPYS	8	105459595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2941	105459595	40904427	9600	19917											
DPYS	1807	broad.mit.edu	37	chr8	105463555	105463555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagcttcgccaggtctcGaaggcctcaatgagggagcc	13	14	2	1	rs538642538	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	114					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGTCTCGAAGGCCTCAA	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18105	0.0		0.0	False		,,,				2504	0.0					ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(340-342)ttC>ttT		dihydropyrimidinase							98	87	91					8																	105463555		2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463555G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.342C>T	8.37:g.105463555G>A							p.F114F	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	474	-			114						Silent	SNP	ENST00000351513.2	37	c.342C>T	CCDS6302.1																																																																																				0.517	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		37	193	0	0	0	1	0	37	193					A	105463555	G	A	105463555	2	1	79	1	0	0	0	0	0	0	0	1	4762	1049	37	1		1	DPYS	8	105463555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3960	105463555	40900467	9601	19918											
LRP12	29967	broad.mit.edu	37	chr8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccatttgggcaatgCcaatacccatcacaacgctg	6	15	1	0	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	399	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGGCAATGCCAATACCCAT	0.468																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1195-1197)tgG>tgA		low density lipoprotein receptor-related protein 12							115	105	108					8																	105509583		2203	4300	6503	SO:0001587	stop_gained	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509583C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1197G>A	8.37:g.105509583C>T	ENSP00000276654:p.Trp399*					LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	p.W399*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1305	-			399			LDL-receptor class A 3.		A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000276654.5	37	c.1197G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.897695	0.97920	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7409	19.7495	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	380;399	.	ENSP00000276654:W399X	W	-	3	0	LRP12	105578759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGG		0.468	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		79	311	0	0	0	1	0	79	311					T	105509583	C	T	105509583	4	4	79	1	0	0	0	0	0	1	0	0	8992	740	26	2	1394	2	LRP12	8	105509583	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46028	105509583	40854439	9602	19919											
LRP12	29967	broad.mit.edu	37	chr8	105510183	105510183	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggatttgcttctttggcacaGatctcttcatcggaactatc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Silent_p.I180I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	199	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGGCACAGATCTCTTCAT	0.428																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(595-597)atC>atA		low density lipoprotein receptor-related protein 12							205	182	190					8																	105510183		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510183G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.597C>A	8.37:g.105510183G>T						LRP12_ENST00000424843.2_Silent_p.I180I	p.I199I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	705	-			199			LDL-receptor class A 1.		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.597C>A	CCDS6303.1																																																																																				0.428	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		105	557	1	0	2.96211e-45	1	3.63119e-45	105	557					T	105510183	G	T	105510183	2	4	79	1	0	0	0	0	0	0	0	1	8992	932	33	3		3	LRP12	8	105510183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	105510183	40853839	9603	19920											
ZFPM2	23414	broad.mit.edu	37	chr8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgctacacgccacgacCctccactgaagaggtctgct	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	716					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGCCACGACCCTCCACTGAA	0.502																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2146-2148)Cct>Tct		zinc finger protein, FOG family member 2							55	53	54					8																	106814456		2077	4205	6282	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814456C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2146C>T	8.37:g.106814456C>T	ENSP00000384179:p.Pro716Ser					ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000522296.1_3'UTR	p.P716S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2396	+			716					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2146C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422952	0.83559	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25749	1.78;2.29;2.29;3.54	5.72	5.72	0.89469	.	0.046322	0.85682	D	0.000000	T	0.53270	0.1786	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47522	-0.9111	10	0.46703	T	0.11	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	716	Q8WW38	FOG2_HUMAN	S	716;584;584;447	ENSP00000384179:P716S;ENSP00000430757:P584S;ENSP00000428720:P584S;ENSP00000367733:P447S	ENSP00000367733:P447S	P	+	1	0	ZFPM2	106883632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CCT		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			36	126	0	0	0	1	0	36	126					T	106814456	C	T	106814456	3	4	79	1	0	0	0	0	1	0	0	0	17711	623	22	2	2176	2	ZFPM2	8	106814456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1304273	106814456	39549566	9604	19921											
ABRA	137735	broad.mit.edu	37	chr8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcctgaccacagccacCtgcactccatcctgctcggg	8	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(628-630)caG>caT		actin-binding Rho activating protein							179	183	182					8																	107781789		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107781789C>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.630G>T	8.37:g.107781789C>A	ENSP00000311436:p.Gln210His						p.Q210H	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	684	-			210						Missense_Mutation	SNP	ENST00000311955.3	37	c.630G>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377609	0.11466	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	2.04	0.26737	.	0.741285	0.13532	N	0.380862	T	0.30696	0.0773	L	0.43152	1.355	0.24564	N	0.993958	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	9	0.48119	T	0.1	-32.5051	4.5672	0.12193	0.1199:0.502:0.2599:0.1182	.	210	Q8N0Z2	ABRA_HUMAN	H	210	.	ENSP00000311436:Q210H	Q	-	3	2	ABRA	107850965	0.000000	0.05858	0.989000	0.46669	0.118000	0.20060	-0.066000	0.11598	0.872000	0.35775	0.655000	0.94253	CAG		0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		228	1046	1	0	8.56882e-71	1	1.08875e-70	228	1046					A	107781789	C	A	107781789	3	1	79	1	0	0	0	0	1	0	0	0	100	680	24	3	523	3	ABRA	8	107781789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	967333	107781789	38582233	9605	19922											
ABRA	137735	broad.mit.edu	37	chr8	107781820	107781820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcgggcctctcctcaGcctctcctccatagccgctg	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781820G>T	ENST00000311955.3	-	1	653	c.599C>A	c.(598-600)gCt>gAt	p.A200D		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCTCCTCAGCCTCTCCTCC	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(598-600)gCt>gAt		actin-binding Rho activating protein							181	183	182					8																	107781820		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107781820G>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.599C>A	8.37:g.107781820G>T	ENSP00000311436:p.Ala200Asp						p.A200D	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	653	-			200						Missense_Mutation	SNP	ENST00000311955.3	37	c.599C>A	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058374	0.19987	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	3.08	0.35506	.	0.860392	0.10819	N	0.630735	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31503	-0.9941	9	0.11485	T	0.65	-23.9422	2.2899	0.04136	0.1473:0.1315:0.4506:0.2706	.	200	Q8N0Z2	ABRA_HUMAN	D	200	.	ENSP00000311436:A200D	A	-	2	0	ABRA	107850996	0.001000	0.12720	0.249000	0.24280	0.456000	0.32438	0.958000	0.29227	0.842000	0.35045	0.655000	0.94253	GCT		0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		24	1245	1	0	2.4624e-09	1	2.59004e-09	24	1245					T	107781820	G	T	107781820	3	4	79	1	0	0	0	0	1	0	0	0	100	971	34	3	554	3	ABRA	8	107781820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	107781820	38582202	9606	19923											
TMEM74	157753	broad.mit.edu	37	chr8	109796947	109796947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcccttttgctgatggCgagctccggttccgctgctc	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(379-381)tcG>tcA		transmembrane protein 74							76	80	79					8																	109796947		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796947C>T	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.381G>A	8.37:g.109796947C>T						TMEM74_ENST00000518838.1_Intron	p.S127S	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	559	-			127						Silent	SNP	ENST00000297459.3	37	c.381G>A	CCDS6310.1																																																																																				0.493	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		85	382	0	0	0	1	0	85	382					T	109796947	C	T	109796947	2	4	79	1	0	0	0	0	0	0	0	1	16254	755	27	1		1	TMEM74	8	109796947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015127	109796947	36567075	9607	19924											
TRHR	7201	broad.mit.edu	37	chr8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagtatttgggaattaatGcatcctcttgttcaataaca	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	111					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGGAATTAATGCATCCTCTTG	0.453																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(331-333)Gca>Tca		thyrotropin-releasing hormone receptor							137	125	129					8																	110100072		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100072G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.331G>T	8.37:g.110100072G>T	ENSP00000430711:p.Ala111Ser					TRHR_ENST00000311762.2_Missense_Mutation_p.A111S	p.A111S			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	682	+			111					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.331G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576023	0.65878	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.75154	-0.91;-0.91	6.06	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.093441	0.64402	D	0.000001	T	0.80732	0.4679	M	0.74258	2.255	0.47476	D	0.999437	P	0.50443	0.935	P	0.57620	0.824	T	0.80489	-0.1360	10	0.87932	D	0	-15.3417	7.0669	0.25157	0.14:0.0:0.7194:0.1405	.	111	P34981	TRFR_HUMAN	S	111	ENSP00000430711:A111S;ENSP00000309818:A111S	ENSP00000309818:A111S	A	+	1	0	TRHR	110169248	1.000000	0.71417	0.802000	0.32245	0.998000	0.95712	9.860000	0.99555	0.883000	0.36040	0.655000	0.94253	GCA		0.453	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			36	394	1	0	4.34311e-12	1	4.6502e-12	36	394					T	110100072	G	T	110100072	3	4	79	1	0	0	0	0	1	0	0	0	16533	1319	46	3	333	3	TRHR	8	110100072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303125	110100072	36263950	9608	19925											
NUDCD1	84955	broad.mit.edu	37	chr8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgagtagtttttaatgTattgccatcaaatctgcata	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(1279-1281)Aca>Gca		NudC domain containing 1							106	109	108					8																	110283254		2203	4295	6498	SO:0001583	missense	84955							g.chr8:110283254T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1279A>G	8.37:g.110283254T>C	ENSP00000239690:p.Thr427Ala					NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	p.T427A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		8	1653	-	all_neural(195;0.219)		427						Missense_Mutation	SNP	ENST00000239690.4	37	c.1279A>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294889	0.05568	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18810	2.19;2.19	6.0	3.59	0.41128	.	0.210241	0.49305	D	0.000152	T	0.12774	0.0310	L	0.39397	1.21	0.09310	N	0.999999	B;B;B	0.27498	0.18;0.001;0.043	B;B;B	0.22753	0.041;0.002;0.018	T	0.28073	-1.0055	10	0.17369	T	0.5	-0.6864	3.6097	0.08055	0.1331:0.0704:0.1391:0.6574	.	340;427;398	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	A	427;398	ENSP00000239690:T427A;ENSP00000410707:T398A	ENSP00000239690:T427A	T	-	1	0	NUDCD1	110352430	0.997000	0.39634	0.107000	0.21349	0.002000	0.02628	2.764000	0.47613	0.494000	0.27859	-0.256000	0.11100	ACA		0.299	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		81	280	0	0	0	1	0	81	280					C	110283254	T	C	110283254	3	2	79	1	0	0	0	0	1	0	0	0	10764	1638	57	4	484	4	NUDCD1	8	110283254	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183182	110283254	36080768	9609	19926											
PKHD1L1	93035	broad.mit.edu	37	chr8	110408262	110408262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttcccccagaggtcaCcatgattttcccttcacaag	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110408262C>T	ENST00000378402.5	+	11	922	c.818C>T	c.(817-819)aCc>aTc	p.T273I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	273	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGAGGTCACCATGATTTTC	0.383										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(817-819)aCc>aTc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							59	51	53					8																	110408262		1973	4170	6143	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110408262C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.818C>T	8.37:g.110408262C>T	ENSP00000367655:p.Thr273Ile	HNSCC(38;0.096)					p.T273I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	922	+			273			IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.818C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388695	0.25118	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.8	3.94	0.45596	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.192761	0.43579	D	0.000543	D	0.83166	0.5195	M	0.83384	2.64	0.58432	D	0.999996	D	0.53151	0.958	P	0.53988	0.739	T	0.80910	-0.1171	10	0.31617	T	0.26	.	10.0449	0.42180	0.0:0.7851:0.1381:0.0767	.	273	Q86WI1	PKHL1_HUMAN	I	273	ENSP00000367655:T273I	ENSP00000367655:T273I	T	+	2	0	PKHD1L1	110477438	0.967000	0.33354	0.404000	0.26397	0.024000	0.10985	2.277000	0.43417	0.740000	0.32651	0.650000	0.86243	ACC		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	47	0	0	0	1	0	11	47					T	110408262	C	T	110408262	3	4	79	1	0	0	0	0	1	0	0	0	12014	507	18	2	860	2	PKHD1L1	8	110408262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125008	110408262	35955760	9610	19927											
PKHD1L1	93035	broad.mit.edu	37	chr8	110442244	110442244	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaacattactcccctagtCttggcgataagcccttctca	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1069	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCCTAGTCTTGGCGATAA	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3205-3207)gtC>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							124	110	115					8																	110442244		1871	4112	5983	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110442244C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3207C>A	8.37:g.110442244C>A		HNSCC(38;0.096)					p.V1069V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		27	3311	+			1069			IPT/TIG 4.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.3207C>A	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	92	1	0	3.99206e-14	1	4.32713e-14	18	92					A	110442244	C	A	110442244	2	1	79	1	0	0	0	0	0	0	0	1	12014	900	32	3		3	PKHD1L1	8	110442244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33982	110442244	35921778	9611	19928											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgactcctctcccagTtggacatcattctgttagtg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5419-5421)gTt>gCt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							122	117	119					8																	110457518		1966	4172	6138	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457518T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5420T>C	8.37:g.110457518T>C	ENSP00000367655:p.Val1807Ala	HNSCC(38;0.096)					p.V1807A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5524	+			1807			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5420T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	2.733	-0.263898	0.05754	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061993	0.64402	N	0.000005	T	0.42223	0.1193	N	0.01228	-0.945	0.34605	D	0.716951	B	0.02656	0.0	B	0.06405	0.002	T	0.50558	-0.8814	10	0.02654	T	1	.	12.3253	0.55007	0.0:0.9171:0.0:0.0829	.	1807	Q86WI1	PKHL1_HUMAN	A	1807	ENSP00000367655:V1807A	ENSP00000367655:V1807A	V	+	2	0	PKHD1L1	110526694	0.999000	0.42202	0.988000	0.46212	0.394000	0.30568	2.764000	0.47613	1.532000	0.49169	-0.242000	0.12053	GTT		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		83	316	0	0	0	1	0	83	316					C	110457518	T	C	110457518	3	2	79	1	0	0	0	0	1	0	0	0	12014	1725	60	4	5570	4	PKHD1L1	8	110457518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15274	110457518	35906504	9612	19929											
PKHD1L1	93035	broad.mit.edu	37	chr8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatggcataaacataAcactaagtaacccactaaat	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2357					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAAACATAACACTAAGTAA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7069-7071)Aca>Gca		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							64	62	62					8																	110471888		1867	4114	5981	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110471888A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7069A>G	8.37:g.110471888A>G	ENSP00000367655:p.Thr2357Ala	HNSCC(38;0.096)					p.T2357A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		47	7173	+			2357					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7069A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382117	0.42207	.	.	ENSG00000205038	ENST00000378402	D	0.93133	-3.17	5.44	4.26	0.50523	.	0.060492	0.64402	D	0.000005	D	0.91036	0.7180	M	0.68952	2.095	0.09310	N	1	B	0.22604	0.072	B	0.25506	0.061	T	0.80991	-0.1135	10	0.30854	T	0.27	.	9.9275	0.41501	0.8475:0.0:0.0:0.1525	.	2357	Q86WI1	PKHL1_HUMAN	A	2357	ENSP00000367655:T2357A	ENSP00000367655:T2357A	T	+	1	0	PKHD1L1	110541064	0.927000	0.31430	0.014000	0.15608	0.929000	0.56500	4.668000	0.61568	0.881000	0.35993	0.374000	0.22700	ACA		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	52	0	0	0	1	0	19	52					G	110471888	A	G	110471888	3	3	79	1	0	0	0	0	1	0	0	0	12014	43	2	4	7255	4	PKHD1L1	8	110471888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14370	110471888	35892134	9613	19930											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcattgtactcaggaagCtgagtggagcattgggttcc	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2827					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCAGGAAGCTGAGTGGAGC	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8479-8481)gCt>gAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							98	91	93					8																	110478873		1954	4168	6122	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478873C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8480C>A	8.37:g.110478873C>A	ENSP00000367655:p.Ala2827Asp	HNSCC(38;0.096)					p.A2827D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8584	+			2827					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8480C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338684	0.24253	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.16	4.26	0.50523	.	0.606576	0.16114	N	0.228944	T	0.80330	0.4603	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.62539	-0.6833	10	0.11485	T	0.65	.	8.8625	0.35267	0.3014:0.553:0.1456:0.0	.	2827	Q86WI1	PKHL1_HUMAN	D	2827	ENSP00000367655:A2827D	ENSP00000367655:A2827D	A	+	2	0	PKHD1L1	110548049	0.002000	0.14202	0.098000	0.21074	0.605000	0.37080	1.615000	0.36922	1.597000	0.50072	0.650000	0.86243	GCT		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	68	1	0	1.76689e-08	1	1.84553e-08	10	68					A	110478873	C	A	110478873	3	1	79	1	0	0	0	0	1	0	0	0	12014	797	28	3	8678	3	PKHD1L1	8	110478873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6985	110478873	35885149	9614	19931											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaccagccttctccagtatCtctgcttgaaaaggatgtgg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2856					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCAGTATCTCTGCTTGAA	0.398										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8566-8568)tCt>tAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138	125	129					8																	110478960		1908	4125	6033	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478960C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8567C>A	8.37:g.110478960C>A	ENSP00000367655:p.Ser2856Tyr	HNSCC(38;0.096)					p.S2856Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8671	+			2856					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8567C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095845	0.76870	.	.	ENSG00000205038	ENST00000378402	D	0.88124	-2.34	6.16	6.16	0.99307	.	0.065168	0.64402	D	0.000006	D	0.91395	0.7285	M	0.74258	2.255	0.43863	D	0.996461	P	0.46578	0.88	P	0.51701	0.677	D	0.91602	0.5296	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2856	Q86WI1	PKHL1_HUMAN	Y	2856	ENSP00000367655:S2856Y	ENSP00000367655:S2856Y	S	+	2	0	PKHD1L1	110548136	1.000000	0.71417	0.755000	0.31263	0.434000	0.31775	6.559000	0.73946	2.937000	0.99478	0.650000	0.86243	TCT		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	121	1	0	0.27861	1	0.278732	8	121					A	110478960	C	A	110478960	3	1	79	1	0	0	0	0	1	0	0	0	12014	913	32	3	8765	3	PKHD1L1	8	110478960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	110478960	35885062	9615	19932											
PKHD1L1	93035	broad.mit.edu	37	chr8	110503218	110503218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagattcaagaacatggctcAtcttatattcgaggctgtgc	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	ENST00000378402.5	+	61	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3334					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATGGCTCATCTTATATTC	0.318										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10000-10002)tcA>tcG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							103	89	93					8																	110503218		1872	4104	5976	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503218A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10002A>G	8.37:g.110503218A>G		HNSCC(38;0.096)					p.S3334S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10106	+			3334					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10002A>G	CCDS47911.1																																																																																				0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		49	191	0	0	0	1	0	49	191					G	110503218	A	G	110503218	2	3	79	1	0	0	0	0	0	0	0	1	12014	204	8	4		4	PKHD1L1	8	110503218	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24258	110503218	35860804	9616	19933											
PKHD1L1	93035	broad.mit.edu	37	chr8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaatagagggaccaataCagttttacagaataatgtag	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3419					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACCAATACAGTTTTACAG	0.358										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10255-10257)aCa>aTa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							76	77	77					8																	110505909		1822	4068	5890	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110505909C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10256C>T	8.37:g.110505909C>T	ENSP00000367655:p.Thr3419Ile	HNSCC(38;0.096)					p.T3419I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		63	10360	+			3419					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10256C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079808	0.20309	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79749	-1.3;-1.3	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.201560	0.43747	D	0.000533	T	0.65217	0.2670	N	0.12569	0.235	0.27387	N	0.955256	B	0.18310	0.027	B	0.24701	0.055	T	0.52472	-0.8571	10	0.21014	T	0.42	.	11.4294	0.50032	0.0:0.919:0.0:0.081	.	3419	Q86WI1	PKHL1_HUMAN	I	3419;347	ENSP00000367655:T3419I;ENSP00000437376:T347I	ENSP00000367655:T3419I	T	+	2	0	PKHD1L1	110575085	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.764000	0.62264	2.894000	0.99253	0.591000	0.81541	ACA		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	112	0	0	0	1	0	26	112					T	110505909	C	T	110505909	3	4	79	1	0	0	0	0	1	0	0	0	12014	478	17	2	10506	2	PKHD1L1	8	110505909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2691	110505909	35858113	9617	19934											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatatttccctccaaggccAgtttaatcctgtggaaaagt	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3444					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAAGGCCAGTTTAATCCT	0.353										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10330-10332)cAg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							143	135	138					8																	110509151		1809	4077	5886	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509151A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10331A>C	8.37:g.110509151A>C	ENSP00000367655:p.Gln3444Pro	HNSCC(38;0.096)					p.Q3444P	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10435	+			3444					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10331A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	5.872	0.345001	0.11126	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80480	-1.38;-1.38	5.64	1.7	0.24286	Pectin lyase fold/virulence factor (1);	0.537282	0.18922	N	0.127454	T	0.70684	0.3252	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.56601	-0.7952	10	0.33141	T	0.24	.	5.5863	0.17277	0.5405:0.1574:0.0:0.3021	.	3444	Q86WI1	PKHL1_HUMAN	P	3444;372	ENSP00000367655:Q3444P;ENSP00000437376:Q372P	ENSP00000367655:Q3444P	Q	+	2	0	PKHD1L1	110578327	0.180000	0.23148	0.176000	0.23000	0.438000	0.31896	0.570000	0.23653	0.044000	0.15775	0.528000	0.53228	CAG		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		59	335	0	0	0	1	0	59	335					C	110509151	A	C	110509151	3	2	79	1	0	0	0	0	1	0	0	0	12014	188	7	4	10585	4	PKHD1L1	8	110509151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3242	110509151	35854871	9618	19935											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattctattgcagaccacaGagagtgtgcacatttataat	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3495					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGACCACAGAGAGTGTGCA	0.328										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10483-10485)Gag>Tag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							119	111	113					8																	110509385		1840	4097	5937	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509385G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10483G>T	8.37:g.110509385G>T	ENSP00000367655:p.Glu3495*	HNSCC(38;0.096)					p.E3495*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		65	10587	+			3495					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.10483G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	37	6.553308	0.97658	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	6.02	6.02	0.97574	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	3495;423	.	ENSP00000367655:E3495X	E	+	1	0	PKHD1L1	110578561	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.411000	0.59781	2.857000	0.98124	0.650000	0.86243	GAG		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		48	315	1	0	2.23044e-30	1	2.6157e-30	48	315					T	110509385	G	T	110509385	4	4	79	1	0	0	0	0	0	1	0	0	12014	943	33	3	10741	3	PKHD1L1	8	110509385	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	110509385	35854637	9619	19936											
EBAG9	9166	broad.mit.edu	37	chr8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatctttcagattgttattaAgaagagagaaccattgaatt	7	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000337573.5	+	5	632	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	111					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(331-333)aAg>aTg		estrogen receptor binding site associated, antigen, 9							70	66	67					8																	110569174		2202	4299	6501	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110569174A>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.332A>T	8.37:g.110569174A>T	ENSP00000337675:p.Lys111Met					EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	p.K111M	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		5	632	+			111					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.332A>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422701	0.83559	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.69258	-0.5192	9	0.87932	D	0	-3.5603	15.4632	0.75377	1.0:0.0:0.0:0.0	.	111	O00559	RCAS1_HUMAN	M	111;14;111;111;111	.	ENSP00000337675:K111M	K	+	2	0	EBAG9	110638350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.618000	0.90932	2.307000	0.77673	0.528000	0.53228	AAG		0.313	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		12	107	0	0	0	1	0	12	107					T	110569174	A	T	110569174	3	4	79	1	0	0	0	0	1	0	0	0	4895	72	3	5	346	5	EBAG9	8	110569174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59789	110569174	35794848	9620	19937											
CSMD3	114788	broad.mit.edu	37	chr8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatacatgggatttTcaaaagctgcttggccattg	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3678						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGGGATTTTCAAAAGCTGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(11032-11034)gAa>gCa		CUB and Sushi multiple domains 3							375	334	348					8																	113237091		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237091T>G	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.11033A>C	8.37:g.113237091T>G	ENSP00000297405:p.Glu3678Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A	p.E3678A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11277	-			3678					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11033A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128914	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.36;1.34;1.44;1.0;1.4	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.961	D;D;P	0.80764	0.994;0.986;0.712	T	0.69548	-0.5116	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	3509;3678;3638	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3638;3678;2948;3509;3608	ENSP00000345799:E3638A;ENSP00000297405:E3678A;ENSP00000341558:E2948A;ENSP00000412263:E3509A;ENSP00000343124:E3608A	ENSP00000297405:E3678A	E	-	2	0	CSMD3	113306267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	GAA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		111	542	0	0	0	1	0	111	542					G	113237091	T	G	113237091	3	3	79	1	0	0	0	0	1	0	0	0	3957	1783	62	4	94	4	CSMD3	8	113237091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2667917	113237091	33126931	9621	19938											
CSMD3	114788	broad.mit.edu	37	chr8	113246693	113246693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattaggcgagcttcctgGcttttatatacccctgtaaa	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000352409.3_Silent_p.S3477S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGCTTCCTGGCTTTTATATA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(10639-10641)agC>agT		CUB and Sushi multiple domains 3							140	137	138					8																	113246693		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113246693G>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.10641C>T	8.37:g.113246693G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000352409.3_Silent_p.S3477S	p.S3547S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10885	-			3547					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10641C>T	CCDS6315.1																																																																																				0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		102	427	0	0	0	1	0	102	427					A	113246693	G	A	113246693	2	1	79	1	0	0	0	0	0	0	0	1	3957	1194	42	2		2	CSMD3	8	113246693	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9602	113246693	33117329	9622	19939											
CSMD3	114788	broad.mit.edu	37	chr8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgataaccagggtcacaGctgaaaactactttggtttt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2724	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACAGCTGAAAACTA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(8170-8172)agC>agA		CUB and Sushi multiple domains 3							125	107	113					8																	113317044		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317044G>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.8172C>A	8.37:g.113317044G>T	ENSP00000297405:p.Ser2724Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R	p.S2724R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			52	8416	-			2724			Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8172C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158734	0.38119	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.04	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.071935	0.56097	D	0.000029	T	0.48978	0.1530	L	0.28504	0.86	0.42354	D	0.992383	B;P	0.44877	0.428;0.845	B;P	0.44860	0.309;0.462	T	0.30679	-0.9970	10	0.28530	T	0.3	.	9.3541	0.38155	0.3569:0.0:0.6431:0.0	.	2724;2684	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2684;2724;1994;2654	ENSP00000345799:S2684R;ENSP00000297405:S2724R;ENSP00000341558:S1994R;ENSP00000343124:S2654R	ENSP00000297405:S2724R	S	-	3	2	CSMD3	113386220	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.787000	0.47798	-0.000000	0.14550	-0.150000	0.13652	AGC		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		42	237	1	0	2.38262e-10	1	2.52522e-10	42	237					T	113317044	G	T	113317044	3	4	79	1	0	0	0	0	1	0	0	0	3957	962	34	3	3031	3	CSMD3	8	113317044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70351	113317044	33046978	9623	19940											
CSMD3	114788	broad.mit.edu	37	chr8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttgtgaaatcactgTggaatttgattagaatctga	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2374	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATCACTGTGGAATTTGAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(7120-7122)cAc>cGc		CUB and Sushi multiple domains 3							112	106	108					8																	113347602		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347602T>C	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.7121A>G	8.37:g.113347602T>C	ENSP00000297405:p.His2374Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R	p.H2374R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7365	-			2374			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7121A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755265	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.68	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.20357	0.565	0.54753	D	0.999988	D;D;P	0.69078	0.997;0.996;0.627	D;D;P	0.83275	0.996;0.996;0.646	T	0.58595	-0.7609	10	0.25751	T	0.34	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2270;2374;2334	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2334;2374;1644;2270;2304	ENSP00000345799:H2334R;ENSP00000297405:H2374R;ENSP00000341558:H1644R;ENSP00000412263:H2270R;ENSP00000343124:H2304R	ENSP00000297405:H2374R	H	-	2	0	CSMD3	113416778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.094000	0.63399	0.477000	0.44152	CAC		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		43	173	0	0	0	1	0	43	173					C	113347602	T	C	113347602	3	2	79	1	0	0	0	0	1	0	0	0	3957	1696	59	4	4110	4	CSMD3	8	113347602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30558	113347602	33016420	9624	19941											
CSMD3	114788	broad.mit.edu	37	chr8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatattggttctgtttgaaGgacagtaaaattgatgtaga	10	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2328	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTTGAAGGACAGTAAAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(6982-6984)Ctt>Att		CUB and Sushi multiple domains 3							116	116	116					8																	113348918		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113348918G>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.6982C>A	8.37:g.113348918G>T	ENSP00000297405:p.Leu2328Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I	p.L2328I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			44	7226	-			2328			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6982C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480405	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	CUB (5);	0.193950	0.34025	N	0.004330	T	0.40956	0.1138	L	0.39245	1.2	0.49213	D	0.999767	B;B;D	0.89917	0.145;0.02;1.0	B;B;D	0.91635	0.159;0.074;0.999	T	0.02893	-1.1097	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2224;2328;2288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2288;2328;1598;2224;2258	ENSP00000345799:L2288I;ENSP00000297405:L2328I;ENSP00000341558:L1598I;ENSP00000412263:L2224I;ENSP00000343124:L2258I	ENSP00000297405:L2328I	L	-	1	0	CSMD3	113418094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.937000	0.99478	0.650000	0.86243	CTT		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		93	438	1	0	4.81362e-53	1	5.99489e-53	93	438					T	113348918	G	T	113348918	3	4	79	1	0	0	0	0	1	0	0	0	3957	1000	35	3	4253	3	CSMD3	8	113348918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	113348918	33015104	9625	19942											
CSMD3	114788	broad.mit.edu	37	chr8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaggatcacaccactgAagtctgacatagcaccacca	8	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2118	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCACTGAAGTCTGACAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(6352-6354)tTc>tGc		CUB and Sushi multiple domains 3							106	107	107					8																	113358415		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358415A>C	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.6353T>G	8.37:g.113358415A>C	ENSP00000297405:p.Phe2118Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C	p.F2118C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6597	-			2118			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6353T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235999	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	CUB (5);	0.071493	0.56097	D	0.000031	T	0.29620	0.0739	L	0.34521	1.04	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.973;0.994	D;P;D	0.66497	0.944;0.852;0.916	T	0.01259	-1.1403	10	0.39692	T	0.17	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	2014;2118;2078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2078;2118;1388;2014;2048	ENSP00000345799:F2078C;ENSP00000297405:F2118C;ENSP00000341558:F1388C;ENSP00000412263:F2014C;ENSP00000343124:F2048C	ENSP00000297405:F2118C	F	-	2	0	CSMD3	113427591	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.097000	0.94193	2.285000	0.76669	0.528000	0.53228	TTC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	321	0	0	0	1	0	12	321					C	113358415	A	C	113358415	3	2	79	1	0	0	0	0	1	0	0	0	3957	246	9	4	4894	4	CSMD3	8	113358415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9497	113358415	33005607	9626	19943											
CSMD3	114788	broad.mit.edu	37	chr8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcctggattacaatcaaAaagaaccgatgaaccgactg	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1902	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACAATCAAAAAGAACCGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(5704-5706)Ttt>Gtt		CUB and Sushi multiple domains 3							121	116	118					8																	113418858		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418858A>C	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.5704T>G	8.37:g.113418858A>C	ENSP00000297405:p.Phe1902Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V	p.F1902V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			35	5948	-			1902			Sushi 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5704T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817349	0.90790	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92691	3.335	0.48040	D	0.999579	D;B;D	0.76494	0.985;0.016;0.999	P;B;D	0.91635	0.771;0.02;0.999	D	0.88209	0.2889	10	0.52906	T	0.07	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1798;1902;1862	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1862;1902;1172;1798;1832	ENSP00000345799:F1862V;ENSP00000297405:F1902V;ENSP00000341558:F1172V;ENSP00000412263:F1798V;ENSP00000343124:F1832V	ENSP00000297405:F1902V	F	-	1	0	CSMD3	113488034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TTT		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		84	365	0	0	0	1	0	84	365					C	113418858	A	C	113418858	3	2	79	1	0	0	0	0	1	0	0	0	3957	14	1	4	5567	4	CSMD3	8	113418858	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60443	113418858	32945164	9627	19944											
CSMD3	114788	broad.mit.edu	37	chr8	113504912	113504912	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggactctcgcagttttGctgtaaaacagtgttagtat	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000455883.2_Splice_Site_p.A1591V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V|CSMD3_ENST00000352409.3_Splice_Site_p.A1695V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1695	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGCAGTTTTGCTGTAAAACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.e31-1		CUB and Sushi multiple domains 3							103	97	99					8																	113504912		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113504912G>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.5084-1C>T	8.37:g.113504912G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Splice_Site_p.A1655_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A1591_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A1695_splice	p.A1695_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			31	5328	-			1695			CUB 9.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.5083_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650331	0.87958	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.9	4.9	0.64082	CUB (4);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	L	0.59436	1.845	0.36825	D	0.886589	D;D;P	0.62365	0.991;0.985;0.935	D;P;P	0.63703	0.917;0.828;0.647	T	0.23013	-1.0200	10	0.27785	T	0.31	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1591;1695;1655	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1655;1695;1035;1591;1695	ENSP00000345799:A1655V;ENSP00000297405:A1695V;ENSP00000341558:A1035V;ENSP00000412263:A1591V;ENSP00000343124:A1695V	ENSP00000297405:A1695V	A	-	2	0	CSMD3	113574088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.315000	0.59172	2.704000	0.92352	0.585000	0.79938	GCA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	62	300	0	0	0	1	0	62	300					A	113504912	G	A	113504912	5	1	79	1	0	0	0	0	0	0	1	0	3957	1333	46	2	6203	2	CSMD3	8	113504912	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86054	113504912	32859110	9628	19945											
CSMD3	114788	broad.mit.edu	37	chr8	113518958	113518958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataacatagtctgcattgacGgtgatagtccagtcacagtc	9	9	2	2	rs139092367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113518958G>A	ENST00000297405.5	-	29	5101	c.4857C>T	c.(4855-4857)acC>acT	p.T1619T	CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000343508.3_Silent_p.T1579T|CSMD3_ENST00000352409.3_Silent_p.T1619T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1619	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCATTGACGGTGATAGTCC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	7	0.00139776	0.0053	0.0	5008	,	,		15666	0.0		0.0	False		,,,				2504	0.0					ENST00000297405.5																			0				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						c.(4855-4857)acC>acT		CUB and Sushi multiple domains 3		G	,,	23,4383	29.9+/-59.1	0,23,2180	148	138	141		4545,4857,4737	-10	0	8	dbSNP_134	141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	,,	1515/3539,1619/3708,1579/3668	113518958	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113518958G>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.4857C>T	8.37:g.113518958G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T1579T|CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000352409.3_Silent_p.T1619T	p.T1619T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5101	-			1619			CUB 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4857C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		79	404	0	0	0	1	0	79	404					A	113518958	G	A	113518958	2	1	79	1	0	0	0	0	0	0	0	1	3957	1103	39	1		1	CSMD3	8	113518958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14046	113518958	32845064	9629	19946											
CSMD3	114788	broad.mit.edu	37	chr8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagggaagtttggtgAaagaataaagcctgaagatc	14	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1601	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGGTGAAAGAATAAAG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(4801-4803)Tca>Gca		CUB and Sushi multiple domains 3							118	110	113					8																	113519014		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519014A>C	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.4801T>G	8.37:g.113519014A>C	ENSP00000297405:p.Ser1601Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A	p.S1601A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5045	-			1601			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4801T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406395	0.83230	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.92649	3.33	0.36203	D	0.850835	P;P;D	0.54772	0.928;0.884;0.968	B;P;P	0.61800	0.335;0.525;0.894	T	0.74910	-0.3503	10	0.40728	T	0.16	.	14.85	0.70289	1.0:0.0:0.0:0.0	.	1497;1601;1561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1561;1601;941;1497;1601	ENSP00000345799:S1561A;ENSP00000297405:S1601A;ENSP00000341558:S941A;ENSP00000412263:S1497A;ENSP00000343124:S1601A	ENSP00000297405:S1601A	S	-	1	0	CSMD3	113588190	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.139000	0.94554	2.091000	0.63221	0.455000	0.32223	TCA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	259	0	0	0	1	0	45	259					C	113519014	A	C	113519014	3	2	79	1	0	0	0	0	1	0	0	0	3957	246	9	4	6494	4	CSMD3	8	113519014	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56	113519014	32845008	9630	19947											
CSMD3	114788	broad.mit.edu	37	chr8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgcaatttaaattatttCcatacccttctgggtaatca	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATTATTTCCATACCCTTC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(2224-2226)gGa>gAa		CUB and Sushi multiple domains 3							86	94	91					8																	113697892		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697892C>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.2225G>A	8.37:g.113697892C>T	ENSP00000297405:p.Gly742Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E	p.G742E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2469	-			742			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2225G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098694	0.76870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40119	0.1104	M	0.66939	2.045	0.52501	D	0.999954	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.97110	0.96;1.0;1.0	T	0.08534	-1.0717	10	0.10902	T	0.67	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	638;742;702	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	702;742;82;638;742	ENSP00000345799:G702E;ENSP00000297405:G742E;ENSP00000341558:G82E;ENSP00000412263:G638E;ENSP00000343124:G742E	ENSP00000297405:G742E	G	-	2	0	CSMD3	113767068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		94	402	0	0	0	1	0	94	402					T	113697892	C	T	113697892	3	4	79	1	0	0	0	0	1	0	0	0	3957	855	30	2	9126	2	CSMD3	8	113697892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178878	113697892	32666130	9631	19948											
CSMD3	114788	broad.mit.edu	37	chr8	113812486	113812486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactatcaagtctggtAcaaagcttccagtcagccta	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113812486A>G	ENST00000297405.5	-	13	2121	c.1877T>C	c.(1876-1878)gTa>gCa	p.V626A	CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	626	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGTCTGGTACAAAGCTTCC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(1876-1878)gTa>gCa		CUB and Sushi multiple domains 3							134	118	123					8																	113812486		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113812486A>G	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.1877T>C	8.37:g.113812486A>G	ENSP00000297405:p.Val626Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A	p.V626A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2121	-			626			CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1877T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409375	0.83340	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.83	5.83	0.93111	CUB (5);	0.000000	0.64402	D	0.000010	T	0.26159	0.0638	L	0.41079	1.255	0.42957	D	0.994393	P;P;P	0.50819	0.928;0.939;0.826	P;P;B	0.57620	0.591;0.824;0.401	T	0.02668	-1.1126	10	0.09084	T	0.74	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	522;626;586	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	586;626;522;626	ENSP00000345799:V586A;ENSP00000297405:V626A;ENSP00000412263:V522A;ENSP00000343124:V626A	ENSP00000297405:V626A	V	-	2	0	CSMD3	113881662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.127000	0.94417	2.240000	0.73641	0.528000	0.53228	GTA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	306	0	0	0	1	0	7	306					G	113812486	A	G	113812486	3	3	79	1	0	0	0	0	1	0	0	0	3957	391	14	4	9482	4	CSMD3	8	113812486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114594	113812486	32551536	9632	19949											
CSMD3	114788	broad.mit.edu	37	chr8	114186024	114186024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggtgagctgagggtgGccatcaaggatgtatccagt	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000352409.3_Silent_p.G212G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	212	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGAGGGTGGCCATCAAGGA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(634-636)ggC>ggT		CUB and Sushi multiple domains 3							140	128	132					8																	114186024		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114186024G>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.636C>T	8.37:g.114186024G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000352409.3_Silent_p.G212G	p.G212G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			4	880	-			212			Sushi 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.636C>T	CCDS6315.1																																																																																				0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		113	456	0	0	0	1	0	113	456					A	114186024	G	A	114186024	2	1	79	1	0	0	0	0	0	0	0	1	3957	1190	42	2		2	CSMD3	8	114186024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373538	114186024	32177998	9633	19950											
CSMD3	114788	broad.mit.edu	37	chr8	114290828	114290828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatcacttaccttcgtaAtataccttaaatccatgagc	3	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000352409.3_Silent_p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	169	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTCGTAATATACCTTAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(505-507)taT>taC		CUB and Sushi multiple domains 3							116	98	104					8																	114290828		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114290828A>G	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.507T>C	8.37:g.114290828A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000352409.3_Silent_p.Y169Y	p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			3	751	-			169			CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.507T>C	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	230	0	0	0	1	0	21	230					G	114290828	A	G	114290828	2	3	79	1	0	0	0	0	0	0	0	1	3957	108	4	4		4	CSMD3	8	114290828	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104804	114290828	32073194	9634	19951											
TRPS1	7227	broad.mit.edu	37	chr8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggaagtcacagaactgaCaattatagctcgttaccata	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000220888.5	-	3	1733	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.C538Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					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)			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)			ACAGAACTGACAATTATAGCT	0.463									Langer-Giedion syndrome																													ENST00000395715.3																			0				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						c.(1612-1614)tGt>tAt		trichorhinophalangeal syndrome I							149	146	147					8																	116616583		1902	4125	6027	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.chr8:116616583C>T	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.1574G>A	8.37:g.116616583C>T	ENSP00000220888:p.Cys525Tyr					TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.C525Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y	p.C538Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2190	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		525					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1613G>A		.	.	.	.	.	.	.	.	.	.	C	18.65	3.668845	0.67814	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63056	-0.6722	10	0.87932	D	0	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	529;525;538	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	538;525;529;525	ENSP00000379065:C538Y;ENSP00000220888:C525Y;ENSP00000428680:C529Y;ENSP00000429174:C525Y	ENSP00000220888:C525Y	C	-	2	0	TRPS1	116685758	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.419000	0.80179	2.793000	0.96121	0.591000	0.81541	TGT		0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		132	619	0	0	0	1	0	132	619					T	116616583	C	T	116616583	3	4	79	1	0	0	0	0	1	0	0	0	16646	478	17	2	2287	2	TRPS1	8	116616583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325755	116616583	29747439	9635	19952											
TRPS1	7227	broad.mit.edu	37	chr8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaatgttgttctaattCggtggatgagttgcccatat	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000220888.5	-	3	1204	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					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.E349K(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)			TGTTCTAATTCGGTGGATGAG	0.408									Langer-Giedion syndrome																													ENST00000395715.3																			1	Substitution - Missense(1)	p.E349K(1)	large_intestine(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						c.(1084-1086)Gaa>Aaa		trichorhinophalangeal syndrome I							111	107	108					8																	116617112		1870	4095	5965	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.chr8:116617112C>T	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.1045G>A	8.37:g.116617112C>T	ENSP00000220888:p.Glu349Lys					TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E349K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K	p.E362K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	1661	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		349					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1084G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	TRPS1	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA		0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		75	370	0	0	0	1	0	75	370					T	116617112	C	T	116617112	3	4	79	1	0	0	0	0	1	0	0	0	16646	893	31	1	2816	1	TRPS1	8	116617112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	116617112	29746910	9636	19953											
EIF3H	8667	broad.mit.edu	37	chr8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattacaatcggcacttcttCaaacatgtactcaaaggtga	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000276682.4	-	7	1403	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338																																						ENST00000521861.1																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(595-597)Gaa>Aaa		eukaryotic translation initiation factor 3, subunit H							121	117	118					8																	117668207		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117668207C>T	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.637G>A	8.37:g.117668207C>T	ENSP00000276682:p.Glu213Lys					EIF3H_ENST00000276682.4_Missense_Mutation_p.E213K	p.E199K	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN			5	618	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		199						Missense_Mutation	SNP	ENST00000276682.4	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.600966	0.96614	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.50548	0.75;0.74;0.76	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86097	2.795	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.53313	0.723;0.723	T	0.70226	-0.4930	10	0.54805	T	0.06	-24.4333	20.8598	0.99761	0.0:1.0:0.0:0.0	.	213;199	B3KS98;O15372	.;EIF3H_HUMAN	K	199;213;167;215	ENSP00000429931:E199K;ENSP00000276682:E213K;ENSP00000428669:E215K	ENSP00000276682:E213K	E	-	1	0	EIF3H	117737388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		0.338	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		39	384	0	0	0	1	0	39	384					T	117668207	C	T	117668207	3	4	79	1	0	0	0	0	1	0	0	0	5036	835	29	2	479	2	EIF3H	8	117668207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1051095	117668207	28695815	9637	19954											
RAD21	5885	broad.mit.edu	37	chr8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgacagatatttggaGgttcttctgggggaagctct	13	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_Missense_Mutation_p.P54L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	509	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GATATTTGGAGGTTCTTCTGG	0.383																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1525-1527)cCt>cTt		RAD21 homolog (S. pombe)							132	131	132					8																	117862951		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117862951G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1526C>T	8.37:g.117862951G>A	ENSP00000297338:p.Pro509Leu					RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000518055.1_Missense_Mutation_p.P54L	p.P509L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			12	1813	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		509			Pro-rich.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1526C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665099	0.67700	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77358	0.66;-1.09;-0.09	5.36	5.36	0.76844	.	0.205404	0.50627	D	0.000105	T	0.70482	0.3229	L	0.36672	1.1	0.80722	D	1	B	0.27823	0.19	B	0.23018	0.043	T	0.66114	-0.6004	10	0.30078	T	0.28	-26.6076	19.1023	0.93279	0.0:0.0:1.0:0.0	.	509	O60216	RAD21_HUMAN	L	509;13;54	ENSP00000297338:P509L;ENSP00000428513:P13L;ENSP00000428003:P54L	ENSP00000297338:P509L	P	-	2	0	RAD21	117932132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.481000	0.83766	0.467000	0.42956	CCT		0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		84	444	0	0	0	1	0	84	444					A	117862951	G	A	117862951	3	1	79	1	0	0	0	0	1	0	0	0	13031	1000	35	2	381	2	RAD21	8	117862951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194744	117862951	28501071	9638	19955											
RAD21	5885	broad.mit.edu	37	chr8	117864872	117864872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgaggaattcatccaAattatctgcctctcctcctt	4	12	4	1	rs201779352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	413					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTCATCCAAATTATCTGCC	0.398													A|||	2	0.000399361	0.0	0.0	5008	,	,		15732	0.002		0.0	False		,,,				2504	0.0					ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1237-1239)Ttg>Ctg		RAD21 homolog (S. pombe)							112	110	111					8																	117864872		2203	4300	6503	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117864872A>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1237T>C	8.37:g.117864872A>G							p.L413L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			10	1524	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		413					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.1237T>C	CCDS6321.1																																																																																				0.398	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		72	393	0	0	0	1	0	72	393					G	117864872	A	G	117864872	2	3	79	1	0	0	0	0	0	0	0	1	13031	11	1	4		4	RAD21	8	117864872	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1921	117864872	28499150	9639	19956											
RAD21	5885	broad.mit.edu	37	chr8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcggtgtaagacagcgtgTaaagagctattaaaaaaaaa	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACAGCGTGTAAAGAGCtat	0.308																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1168-1170)Aca>Gca		RAD21 homolog (S. pombe)							58	57	57					8																	117864941		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117864941T>C	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1168A>G	8.37:g.117864941T>C	ENSP00000297338:p.Thr390Ala						p.T390A	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			10	1455	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		390			Interaction with STAG1.|Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1168A>G	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099247	0.56183	.	.	ENSG00000164754	ENST00000297338	T	0.65732	-0.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.56396	1.775	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.67795	-0.5578	10	0.08381	T	0.77	0.1095	15.669	0.77258	0.0:0.0:0.0:1.0	.	390	O60216	RAD21_HUMAN	A	390	ENSP00000297338:T390A	ENSP00000297338:T390A	T	-	1	0	RAD21	117934122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.952000	0.70282	2.092000	0.63282	0.460000	0.39030	ACA		0.308	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		69	226	0	0	0	1	0	69	226					C	117864941	T	C	117864941	3	2	79	1	0	0	0	0	1	0	0	0	13031	1638	57	4	747	4	RAD21	8	117864941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69	117864941	28499081	9640	19957											
RAD21	5885	broad.mit.edu	37	chr8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagatgatactctccaCgctgctctctaaattacact	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	41					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACTCTCCACGCTGCTCTCT	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(121-123)Gtg>Atg		RAD21 homolog (S. pombe)							82	74	76					8																	117878848		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878848C>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.121G>A	8.37:g.117878848C>T	ENSP00000297338:p.Val41Met					RAD21_ENST00000523547.1_5'UTR	p.V41M	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			2	408	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		41					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.121G>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576225	0.86645	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.83	4.96	0.65561	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81111	-0.1081	10	0.72032	D	0.01	-6.9429	14.7782	0.69746	0.0:0.9308:0.0:0.0692	.	41	O60216	RAD21_HUMAN	M	41	ENSP00000297338:V41M;ENSP00000429342:V41M;ENSP00000427923:V41M;ENSP00000430524:V41M;ENSP00000428158:V41M	ENSP00000297338:V41M	V	-	1	0	RAD21	117948029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	GTG		0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		40	277	0	0	0	1	0	40	277					T	117878848	C	T	117878848	3	4	79	1	0	0	0	0	1	0	0	0	13031	536	19	1	1826	1	RAD21	8	117878848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13907	117878848	28485174	9641	19958											
SLC30A8	169026	broad.mit.edu	37	chr8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggacttctccatcttaCtcatggaaggtaggagtgat	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000456015.2	+	6	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	274					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTCCATCTTACTCATGGAAGG	0.428																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(673-675)Ctc>Ttc		solute carrier family 30 (zinc transporter), member 8							122	118	119					8																	118175760		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175760C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.820C>T	8.37:g.118175760C>T	ENSP00000415011:p.Leu274Phe					SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.L274F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F	p.L225F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1107	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		274					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.673C>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016112	0.75161	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.95	4.06	0.47325	.	0.000000	0.64402	D	0.000001	D	0.92378	0.7581	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93116	0.6521	10	0.87932	D	0	-15.5648	11.6831	0.51470	0.0:0.9106:0.0:0.0894	.	274	Q8IWU4	ZNT8_HUMAN	F	225;225;225;274	ENSP00000428545:L225F;ENSP00000407505:L225F;ENSP00000431069:L225F;ENSP00000415011:L274F	ENSP00000407505:L225F	L	+	1	0	SLC30A8	118244941	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.015000	0.40961	1.388000	0.46506	0.655000	0.94253	CTC		0.428	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		66	266	0	0	0	1	0	66	266					T	118175760	C	T	118175760	3	4	79	1	0	0	0	0	1	0	0	0	14611	565	20	2	842	2	SLC30A8	8	118175760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296912	118175760	28188262	9642	19959											
EXT1	2131	broad.mit.edu	37	chr8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtattcatgcagctctgtcGctgggcaaagtggtcagggt	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	701	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CM010236	EXT1	M		c.(2101-2103)Cga>Tga		exostosin glycosyltransferase 1							72	68	69					8																	118812091		2203	4300	6503	SO:0001587	stop_gained	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812091G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2101C>T	8.37:g.118812091G>A	ENSP00000367446:p.Arg701*						p.R701*	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2907	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		701					B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	37	c.2101C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	45	11.435230	0.99560	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	5.02	0.67125	.	0.056834	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0602	14.3793	0.66900	0.0:0.0:0.7492:0.2508	.	.	.	.	X	701	.	ENSP00000367446:R701X	R	-	1	2	EXT1	118881272	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.832000	0.97577	0.655000	0.94253	CGA		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		52	233	0	0	0	1	0	52	233					A	118812091	G	A	118812091	4	1	79	1	0	0	0	0	0	1	0	0	5341	1095	38	1	143	1	EXT1	8	118812091	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636331	118812091	27551931	9643	19960											
EXT1	2131	broad.mit.edu	37	chr8	119122680	119122680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccacgtcctcggtgtaGtcaggccaagtgccggaata	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	202					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(604-606)gaC>gaT		exostosin glycosyltransferase 1							63	74	70					8																	119122680		2202	4300	6502	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122680G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.606C>T	8.37:g.119122680G>A							p.D202D	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1412	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		202					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.606C>T	CCDS6324.1																																																																																				0.458	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		121	556	0	0	0	1	0	121	556					A	119122680	G	A	119122680	2	1	79	1	0	0	0	0	0	0	0	1	5341	1020	36	2		2	EXT1	8	119122680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310589	119122680	27241342	9644	19961											
EXT1	2131	broad.mit.edu	37	chr8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaatgttttggtaactttCggcgattttctccccttttt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	129					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(385-387)Gaa>Aaa		exostosin glycosyltransferase 1							87	95	92					8																	119122901		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122901C>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.385G>A	8.37:g.119122901C>T	ENSP00000367446:p.Glu129Lys						p.E129K	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1191	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		129					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.385G>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271343	0.59649	.	.	ENSG00000182197	ENST00000378204	D	0.97598	-4.45	5.47	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.42245	1.32	0.58432	D	0.999999	P	0.40250	0.709	B	0.39840	0.311	D	0.93121	0.6525	10	0.17369	T	0.5	-16.4487	15.7067	0.77588	0.0:0.863:0.137:0.0	.	129	Q16394	EXT1_HUMAN	K	129	ENSP00000367446:E129K	ENSP00000367446:E129K	E	-	1	0	EXT1	119192082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.558000	0.86282	0.462000	0.41574	GAA		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		110	410	0	0	0	1	0	110	410					T	119122901	C	T	119122901	3	4	79	1	0	0	0	0	1	0	0	0	5341	893	31	1	1899	1	EXT1	8	119122901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	119122901	27241121	9645	19962											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagctttccatcaagctacGaagctgctcgaaggtgaggt	11	9	1	1	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(886-888)Cgt>Tgt		tumor necrosis factor receptor superfamily, member 11b		G	CYS/ARG	0,4406		0,0,2203	127	102	110		886	3.9	0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11B	NM_002546.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/402	119936933	1,13005	2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936933G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.886C>T	8.37:g.119936933G>A	ENSP00000297350:p.Arg296Cys						p.R296C	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1264	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		296			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.886C>T	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831937	0.32421	0.0	1.16E-4	ENSG00000164761	ENST00000297350	D	0.87179	-2.22	5.74	3.91	0.45181	Death (1);	1.391200	0.03735	N	0.254055	D	0.85444	0.5698	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.47206	0.541	T	0.70691	-0.4802	9	.	.	.	-1.5943	4.7775	0.13187	0.0732:0.1069:0.4216:0.3984	.	296	O00300	TR11B_HUMAN	C	296	ENSP00000297350:R296C	.	R	-	1	0	TNFRSF11B	120006114	0.009000	0.17119	0.003000	0.11579	0.624000	0.37722	1.152000	0.31663	0.840000	0.34995	0.563000	0.77884	CGT		0.463	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			70	246	0	0	0	1	0	70	246					A	119936933	G	A	119936933	3	1	79	1	0	0	0	0	1	0	0	0	16337	1058	37	1	323	1	TNFRSF11B	8	119936933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814032	119936933	26427089	9646	19963											
MAL2	114569	broad.mit.edu	37	chr8	120233931	120233931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagcgtttttcttttcGctcctctttctgggcatgtt	9	10	3	1	rs377088720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	ENST00000276681.6	+	3	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	79	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTCTTTTCGCTCCTCTTTC	0.458																																						ENST00000276681.6																			0											c.(235-237)tcG>tcA		mal, T-cell differentiation protein 2 (gene/pseudogene)		G		0,3968		0,0,1984	186	185	186		238	1.3	0.7	8		186	2,8332		0,2,4165	no	coding-synonymous	MAL2	NM_052886.2		0,2,6149	AA,AG,GG		0.024,0.0,0.0163		79/177	120233931	2,12300	1984	4167	6151	SO:0001819	synonymous_variant	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233931G>A	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.237G>A	8.37:g.120233931G>A						MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.S79S	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	339	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		79			MARVEL.		B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37	c.237G>A																																																																																					0.458	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		126	718	0	0	0	1	0	126	718					A	120233931	G	A	120233931	2	1	79	1	0	0	0	0	0	0	0	1	9241	1074	38	1		1	MAL2	8	120233931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296998	120233931	26130091	9647	19964											
NOV	4856	broad.mit.edu	37	chr8	120430340	120430340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgatggggtcatctaccGcagtggagagaaatttcagc	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430340G>A	ENST00000259526.3	+	3	580	c.353G>A	c.(352-354)cGc>cAc	p.R118H	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTCATCTACCGCAGTGGAGAG	0.498																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(352-354)cGc>cAc		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101	105	104					8																	120430340		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430340G>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.353G>A	8.37:g.120430340G>A	ENSP00000259526:p.Arg118His						p.R118H	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	580	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		118			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.353G>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260726	0.80246	.	.	ENSG00000136999	ENST00000259526	T	0.72505	-0.66	5.51	2.63	0.31362	von Willebrand factor, type C (3);	0.251742	0.42821	N	0.000660	T	0.61776	0.2374	L	0.50333	1.59	0.40710	D	0.982568	B	0.24368	0.102	B	0.23419	0.046	T	0.56498	-0.7969	10	0.44086	T	0.13	-19.3073	9.239	0.37484	0.219:0.0:0.781:0.0	.	118	P48745	NOV_HUMAN	H	118	ENSP00000259526:R118H	ENSP00000259526:R118H	R	+	2	0	NOV	120499521	0.974000	0.33945	0.988000	0.46212	0.993000	0.82548	0.960000	0.29253	0.373000	0.24621	0.561000	0.74099	CGC		0.498	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		35	306	0	0	0	1	0	35	306					A	120430340	G	A	120430340	3	1	79	1	0	0	0	0	1	0	0	0	10595	1087	38	1	363	1	NOV	8	120430340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196409	120430340	25933682	9648	19965											
NOV	4856	broad.mit.edu	37	chr8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctaccgcagtggagagaAatttcagccaagctgcaaat	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AGTGGAGAGAAATTTCAGCCA	0.512																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(364-366)aAa>aCa		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						98	101	100					8																	120430352		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430352A>C	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.365A>C	8.37:g.120430352A>C	ENSP00000259526:p.Lys122Thr						p.K122T	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	592	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		122			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.365A>C	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123628	0.37436	.	.	ENSG00000136999	ENST00000259526	T	0.70869	-0.52	5.51	3.56	0.40772	von Willebrand factor, type C (3);	0.174753	0.53938	N	0.000059	T	0.32194	0.0821	N	0.00329	-1.635	0.35092	D	0.764375	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.19590	T	0.45	-5.5229	9.4965	0.38991	0.2304:0.66:0.1096:0.0	.	122	P48745	NOV_HUMAN	T	122	ENSP00000259526:K122T	ENSP00000259526:K122T	K	+	2	0	NOV	120499533	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.747000	0.47475	0.740000	0.32651	0.459000	0.35465	AAA		0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		34	274	0	0	0	1	0	34	274					C	120430352	A	C	120430352	3	2	79	1	0	0	0	0	1	0	0	0	10595	14	1	4	375	4	NOV	8	120430352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	120430352	25933670	9649	19966											
NOV	4856	broad.mit.edu	37	chr8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaagaagtcactcaaaGccatccacctgcagttcaag	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTCACTCAAAGCCATCCACCT	0.488																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(817-819)Gcc>Acc		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						76	77	77					8																	120435115		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435115G>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.817G>A	8.37:g.120435115G>A	ENSP00000259526:p.Ala273Thr					RP11-775B15.2_ENST00000519786.1_RNA	p.A273T	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1044	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		273			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.817G>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322686	0.60634	.	.	ENSG00000136999	ENST00000259526	D	0.89343	-2.5	5.91	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.159685	0.56097	D	0.000033	D	0.91297	0.7256	M	0.78637	2.42	0.38106	D	0.937413	P	0.46859	0.885	P	0.51324	0.666	D	0.91883	0.5517	10	0.87932	D	0	-21.4507	10.9553	0.47354	0.0:0.1261:0.6124:0.2615	.	273	P48745	NOV_HUMAN	T	273	ENSP00000259526:A273T	ENSP00000259526:A273T	A	+	1	0	NOV	120504296	0.815000	0.29118	0.982000	0.44146	0.382000	0.30200	0.780000	0.26760	0.770000	0.33336	0.650000	0.86243	GCC		0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		92	486	0	0	0	1	0	92	486					A	120435115	G	A	120435115	3	1	79	1	0	0	0	0	1	0	0	0	10595	971	34	2	835	2	NOV	8	120435115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4763	120435115	25928907	9650	19967											
ENPP2	5168	broad.mit.edu	37	chr8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttgattcgtcctctgaGctctgcaatggaaacagaac	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000075322.6	-	25	2482	c.2424C>A	c.(2422-2424)agC>agA	p.S808R	ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	808					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)			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)			CGTCCTCTGAGCTCTGCAATG	0.443																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				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						c.(2485-2487)agC>agA		ectonucleotide pyrophosphatase/phosphodiesterase 2							139	127	131					8																	120569929		2203	4300	6503	SO:0001583	missense	0				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.chr8:120569929G>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.2424C>A	8.37:g.120569929G>T	ENSP00000075322:p.Ser808Arg					ENPP2_ENST00000075322.6_Missense_Mutation_p.S808R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R	p.S829R			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2667	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		808					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2487C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909460	0.33721	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.72;-0.71;-0.93;-0.71;-0.71	5.91	3.15	0.36227	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.077468	0.52532	D	0.000070	T	0.80341	0.4605	M	0.68952	2.095	0.48696	D	0.99969	P;P;D;P;D	0.58970	0.806;0.848;0.983;0.71;0.984	P;P;P;B;P	0.61132	0.776;0.583;0.729;0.35;0.884	T	0.76906	-0.2786	10	0.40728	T	0.16	.	9.5939	0.39563	0.2684:0.0:0.7316:0.0	.	346;833;808;860;443	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	860;829;443;833;808	ENSP00000259486:S860R;ENSP00000403315:S829R;ENSP00000429476:S443R;ENSP00000428291:S833R;ENSP00000075322:S808R	ENSP00000075322:S808R	S	-	3	2	ENPP2	120639110	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	1.137000	0.31479	0.402000	0.25451	0.655000	0.94253	AGC		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			84	416	1	0	5.71386e-39	1	6.9007e-39	84	416					T	120569929	G	T	120569929	3	4	79	1	0	0	0	0	1	0	0	0	5148	962	34	3	171	3	ENPP2	8	120569929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134814	120569929	25794093	9651	19968											
ENPP2	5168	broad.mit.edu	37	chr8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttgtcaggccggtgagGcaggatgaaggaggacacag	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000075322.6	-	24	2447	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	797					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)			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)			GGCCGGTGAGGCAGGATGAAG	0.483																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				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						c.(2452-2454)Cct>Tct		ectonucleotide pyrophosphatase/phosphodiesterase 2							127	109	115					8																	120575129		2203	4300	6503	SO:0001583	missense	0				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.chr8:120575129G>A	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.2389C>T	8.37:g.120575129G>A	ENSP00000075322:p.Pro797Ser					ENPP2_ENST00000075322.6_Missense_Mutation_p.P797S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S	p.P818S			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2632	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		797					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2452C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592355	0.86953	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.8	4.93	0.64822	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0	D;D;D;D;D	0.78314	0.991;0.965;0.982;0.967;0.99	T	0.73852	-0.3852	10	0.87932	D	0	.	14.6138	0.68534	0.0694:0.0:0.9306:0.0	.	335;822;797;849;432	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	849;818;432;822;797	ENSP00000259486:P849S;ENSP00000403315:P818S;ENSP00000429476:P432S;ENSP00000428291:P822S;ENSP00000075322:P797S	ENSP00000075322:P797S	P	-	1	0	ENPP2	120644310	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.750000	0.98875	1.451000	0.47736	0.650000	0.86243	CCT		0.483	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			47	235	0	0	0	1	0	47	235					A	120575129	G	A	120575129	3	1	79	1	0	0	0	0	1	0	0	0	5148	1203	42	2	210	2	ENPP2	8	120575129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5200	120575129	25788893	9652	19969											
ENPP2	5168	broad.mit.edu	37	chr8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacacggacatcaggccGgacgcaactggtcagatggt	13	10	2	2	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000075322.6	-	21	2018	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					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)			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)			ACATCAGGCCGGACGCAACTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16418	0.0		0.0	False		,,,				2504	0.001				Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				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						c.(2023-2025)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	120	109	112		1960,2035,2116	4.5	1	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	654/864,679/889,706/916	120581568	1,13005	2203	4300	6503	SO:0001583	missense	0				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.chr8:120581568G>A	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.1960C>T	8.37:g.120581568G>A	ENSP00000075322:p.Arg654Trp					ENPP2_ENST00000075322.6_Missense_Mutation_p.R654W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W	p.R675W			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		22	2203	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		654					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2023C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560122	0.65538	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.36	4.47	0.54385	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;1.0	D	0.85082	0.0946	10	0.87932	D	0	.	13.9544	0.64137	0.0:0.0:0.7101:0.2899	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	W	706;675;289;679;654	ENSP00000259486:R706W;ENSP00000403315:R675W;ENSP00000429476:R289W;ENSP00000428291:R679W;ENSP00000075322:R654W	ENSP00000075322:R654W	R	-	1	2	ENPP2	120650749	0.962000	0.33011	0.986000	0.45419	0.653000	0.38743	1.304000	0.33482	1.221000	0.43506	0.650000	0.86243	CGG		0.512	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			64	323	0	0	0	1	0	64	323					A	120581568	G	A	120581568	3	1	79	1	0	0	0	0	1	0	0	0	5148	1115	39	1	651	1	ENPP2	8	120581568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6439	120581568	25782454	9653	19970											
TAF2	6873	broad.mit.edu	37	chr8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatatcagtgagtgcaagcCgagatgctggagtagggaat	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	678					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)			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)			GAGTGCAAGCCGAGATGCTGG	0.418																																						ENST00000378164.2																			0				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						c.(2032-2034)cGg>cAg		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							116	117	117					8																	120795700		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120795700C>T	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.2033G>A	8.37:g.120795700C>T	ENSP00000367406:p.Arg678Gln						p.R678Q	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		16	2331	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		678					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2033G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423498	0.96111	.	.	ENSG00000064313	ENST00000378164	T	0.50277	0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.50659	0.647	T	0.45498	-0.9257	10	0.40728	T	0.16	-38.7402	20.6593	0.99626	0.0:1.0:0.0:0.0	.	678	Q6P1X5	TAF2_HUMAN	Q	678	ENSP00000367406:R678Q	ENSP00000367406:R678Q	R	-	2	0	TAF2	120864881	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.789000	0.85783	2.885000	0.99019	0.655000	0.94253	CGG		0.418	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		104	434	0	0	0	1	0	104	434					T	120795700	C	T	120795700	3	4	79	1	0	0	0	0	1	0	0	0	15576	652	23	1	1610	1	TAF2	8	120795700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214132	120795700	25568322	9654	19971											
TAF2	6873	broad.mit.edu	37	chr8	120803660	120803660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtattcccaggacagtgtAtgtggatgctttattgaaaa	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	439					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)			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)			AGGACAGTGTATGTGGATGCT	0.323																																						ENST00000378164.2																			0				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						c.(1315-1317)caT>caC		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							100	95	97					8																	120803660		2203	4299	6502	SO:0001819	synonymous_variant	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.chr8:120803660A>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1317T>C	8.37:g.120803660A>G							p.H439H	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		11	1615	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		439					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.1317T>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	6.538	0.467601	0.12402	.	.	ENSG00000064313	ENST00000523904	.	.	.	4.79	-1.66	0.08265	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55642	-0.8109	4	.	.	.	-28.6868	11.6465	0.51263	0.4583:0.0:0.5417:0.0	.	.	.	.	T	132	.	.	I	-	2	0	TAF2	120872841	1.000000	0.71417	0.878000	0.34440	0.747000	0.42532	1.180000	0.32005	-0.229000	0.09854	-0.456000	0.05471	ATA		0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		43	190	0	0	0	1	0	43	190					G	120803660	A	G	120803660	2	3	79	1	0	0	0	0	0	0	0	1	15576	446	16	4		4	TAF2	8	120803660	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7960	120803660	25560362	9655	19972											
DSCC1	79075	broad.mit.edu	37	chr8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaactttaccaaaagAccatgattcagaatccacaa	5	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	220					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(658-660)Tct>Cct		DNA replication and sister chromatid cohesion 1							154	165	161					8																	120855907		2203	4300	6503	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120855907A>G		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.658T>C	8.37:g.120855907A>G	ENSP00000322180:p.Ser220Pro						p.S220P	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	872	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		220					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.658T>C	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	A	6.220	0.408665	0.11812	.	.	ENSG00000136982	ENST00000313655	T	0.47177	0.85	5.29	1.58	0.23477	.	0.149499	0.64402	D	0.000007	T	0.28499	0.0705	L	0.29908	0.895	0.49687	D	0.999818	B	0.17465	0.022	B	0.20955	0.032	T	0.04440	-1.0951	10	0.21540	T	0.41	-8.5604	4.4856	0.11788	0.5833:0.1665:0.2502:0.0	.	220	Q9BVC3	DCC1_HUMAN	P	220	ENSP00000322180:S220P	ENSP00000322180:S220P	S	-	1	0	DSCC1	120925088	0.999000	0.42202	0.993000	0.49108	0.387000	0.30353	0.837000	0.27558	0.405000	0.25532	-0.321000	0.08615	TCT		0.358	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		152	766	0	0	0	1	0	152	766					G	120855907	A	G	120855907	3	3	79	1	0	0	0	0	1	0	0	0	4786	275	10	4	543	4	DSCC1	8	120855907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52247	120855907	25508115	9656	19973											
DSCC1	79075	broad.mit.edu	37	chr8	120855987	120855987	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcaagaatcctccaataaCctacaaatttcaaaagttat	2	9	2	1	rs376874066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	193					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.e5-1		DNA replication and sister chromatid cohesion 1							85	96	92					8																	120855987		2203	4300	6503	SO:0001630	splice_region_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120855987C>A		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.578-1G>T	8.37:g.120855987C>A							p.G193_splice	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	792	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		193					Q969N5	Splice_Site	SNP	ENST00000313655.4	37	c.577_splice	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312999	0.81358	.	.	ENSG00000136982	ENST00000313655	T	0.67865	-0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87853	0.2659	10	0.87932	D	0	.	19.3011	0.94144	0.0:1.0:0.0:0.0	.	193	Q9BVC3	DCC1_HUMAN	V	193	ENSP00000322180:G193V	ENSP00000322180:G193V	G	-	2	0	DSCC1	120925168	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.560000	0.82277	2.642000	0.89623	0.650000	0.86243	GGT		0.363	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094	Missense_Mutation	97	490	1	0	2.1089e-46	1	2.5903e-46	97	490					A	120855987	C	A	120855987	5	1	79	1	0	0	0	0	0	0	1	0	4786	521	18	3	623	3	DSCC1	8	120855987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	120855987	25508035	9657	19974											
COL14A1	7373	broad.mit.edu	37	chr8	121262977	121262977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcctcaggcttcagCgacgccctgacaggcatggt	12	15	2	1	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000309791.4_Silent_p.S908S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCTTCAGCGACGCCCTGA	0.478																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2722-2724)agC>agT		collagen, type XIV, alpha 1		C		0,4406		0,0,2203	81	72	75		2724	-1.8	0.9	8	dbSNP_132	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL14A1	NM_021110.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		908/1797	121262977	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121262977C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2724C>T	8.37:g.121262977C>T						COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000432943.2_3'UTR	p.S908S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		22	2994	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		908			Fibronectin type-III 7.			Silent	SNP	ENST00000297848.3	37	c.2724C>T	CCDS34938.1																																																																																				0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		44	196	0	0	0	1	0	44	196					T	121262977	C	T	121262977	2	4	79	1	0	0	0	0	0	0	0	1	3680	767	27	1		1	COL14A1	8	121262977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406990	121262977	25101045	9658	19975											
MRPL13	28998	broad.mit.edu	37	chr8	121426282	121426282	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttgtgtgtactcatctaGacgtttaggtatttttcgtg	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	155					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTCATCTAGACGTTTAGGT	0.328																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(463-465)Cta>Tta		mitochondrial ribosomal protein L13							159	151	154					8																	121426282		2203	4300	6503	SO:0001819	synonymous_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426282G>A	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.463C>T	8.37:g.121426282G>A							p.L155L	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	754	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		155					B2R4R8|Q9UI04	Silent	SNP	ENST00000306185.3	37	c.463C>T	CCDS6332.1																																																																																				0.328	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		75	306	0	0	0	1	0	75	306					A	121426282	G	A	121426282	2	1	79	1	0	0	0	0	0	0	0	1	9819	933	33	2		2	MRPL13	8	121426282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163305	121426282	24937740	9659	19976											
SNTB1	6641	broad.mit.edu	37	chr8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacatagggcgtggcttctCgcatgtacttcactgcaagg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483																																						ENST00000395601.3																			2	Substitution - Missense(2)	p.R195L(1)|p.R195P(1)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(583-585)cGa>cAa		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							75	79	78					8																	121706136		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706136C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.584G>A	8.37:g.121706136C>T	ENSP00000378965:p.Arg195Gln					SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	998	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		195			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.584G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262029	0.95368	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58652	0.32;0.32	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.85130	0.581;0.997	T	0.71230	-0.4654	10	0.49607	T	0.09	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	195;195	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	195	ENSP00000378965:R195Q;ENSP00000431124:R195Q	ENSP00000378965:R195Q	R	-	2	0	SNTB1	121775317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	CGA		0.483	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		71	321	0	0	0	1	0	71	321					T	121706136	C	T	121706136	3	4	79	1	0	0	0	0	1	0	0	0	14922	884	31	1	1056	1	SNTB1	8	121706136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279854	121706136	24657886	9660	19977											
HAS2	3037	broad.mit.edu	37	chr8	122626577	122626577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgatactggaatgagTcctatgaaattaacaacaat	6	7	0	3	rs530553094		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	477					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAATGAGTCCTATGAAAT	0.408																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1429-1431)ggA>ggG		hyaluronan synthase 2							116	115	115					8																	122626577		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626577T>C	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1431A>G	8.37:g.122626577T>C							p.G477G	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1968	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		477					Q32MM3	Silent	SNP	ENST00000303924.4	37	c.1431A>G	CCDS6335.1																																																																																				0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		73	659	0	0	0	1	0	73	659					C	122626577	T	C	122626577	2	2	79	1	0	0	0	0	0	0	0	1	6992	1654	58	4		4	HAS2	8	122626577	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	920441	122626577	23737445	9661	19978											
HAS2	3037	broad.mit.edu	37	chr8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttgcatgatgcagataCttttgttggacaagaccaat	8	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	180					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCAGATACTTTTGTTGGA	0.458																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(538-540)aGt>aTt		hyaluronan synthase 2							296	262	274					8																	122641042		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641042C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.539G>T	8.37:g.122641042C>A	ENSP00000306991:p.Ser180Ile						p.S180I	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1076	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		180					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.539G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670841	0.29693	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.44083	0.93	5.87	5.0	0.66597	.	0.113441	0.85682	D	0.000000	T	0.27866	0.0686	N	0.22421	0.69	0.42532	D	0.993049	B	0.19583	0.037	B	0.17098	0.017	T	0.08722	-1.0708	10	0.21014	T	0.42	-12.8627	11.184	0.48644	0.0:0.8605:0.0:0.1395	.	180	Q92819	HAS2_HUMAN	I	180	ENSP00000306991:S180I	ENSP00000306991:S180I	S	-	2	0	HAS2	122710223	1.000000	0.71417	0.944000	0.38274	0.883000	0.51084	3.928000	0.56506	1.631000	0.50456	0.655000	0.94253	AGT		0.458	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		251	1112	1	0	1.20862e-62	1	1.52353e-62	251	1112					A	122641042	C	A	122641042	3	1	79	1	0	0	0	0	1	0	0	0	6992	565	20	3	1131	3	HAS2	8	122641042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14465	122641042	23722980	9662	19979											
ZHX2	22882	broad.mit.edu	37	chr8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggctagcaaacgaaaatCtacaactccatgcatggttc	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	7					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(19-21)tCt>tTt		zinc fingers and homeoboxes 2							44	38	40					8																	123963770		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963770C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.20C>T	8.37:g.123963770C>T	ENSP00000314709:p.Ser7Phe						p.S7F	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	855	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		7						Missense_Mutation	SNP	ENST00000314393.4	37	c.20C>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297762	0.95574	.	.	ENSG00000178764	ENST00000314393	T	0.33654	1.4	5.86	5.86	0.93980	.	0.056836	0.64402	D	0.000001	T	0.65760	0.2722	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	10	0.87932	D	0	-11.8845	20.1829	0.98210	0.0:1.0:0.0:0.0	.	7	Q9Y6X8	ZHX2_HUMAN	F	7	ENSP00000314709:S7F	ENSP00000314709:S7F	S	+	2	0	ZHX2	124032951	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.247000	0.78257	2.767000	0.95098	0.561000	0.74099	TCT		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		18	85	0	0	0	1	0	18	85					T	123963770	C	T	123963770	3	4	79	1	0	0	0	0	1	0	0	0	17729	913	32	2	22	2	ZHX2	8	123963770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1322728	123963770	22400252	9663	19980											
ZHX2	22882	broad.mit.edu	37	chr8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacaccagccagtgaccGcaagaagacaaaggagcaga	11	12	1	4	rs546766772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17580	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1330-1332)cGc>cAc		zinc fingers and homeoboxes 2							96	113	107					8																	123965081		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965081G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1331G>A	8.37:g.123965081G>A	ENSP00000314709:p.Arg444His						p.R444H	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2166	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		444			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1331G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456528	0.63401	.	.	ENSG00000178764	ENST00000314393	D	0.91792	-2.91	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.227219	0.45606	D	0.000350	D	0.93858	0.8035	L	0.40543	1.245	0.52099	D	0.999942	D	0.89917	1.0	D	0.73380	0.98	D	0.90635	0.4570	10	0.16896	T	0.51	-19.237	20.1559	0.98114	0.0:0.0:1.0:0.0	.	444	Q9Y6X8	ZHX2_HUMAN	H	444	ENSP00000314709:R444H	ENSP00000314709:R444H	R	+	2	0	ZHX2	124034262	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.241000	0.78201	2.779000	0.95612	0.491000	0.48974	CGC		0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		41	189	0	0	0	1	0	41	189					A	123965081	G	A	123965081	3	1	79	1	0	0	0	0	1	0	0	0	17729	1087	38	1	1333	1	ZHX2	8	123965081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1311	123965081	22398941	9664	19981											
ZHX2	22882	broad.mit.edu	37	chr8	123965964	123965964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccccaaaaagctctgCgaagaggacttggagaagtt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	738					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2212-2214)tgC>tgT		zinc fingers and homeoboxes 2							92	98	96					8																	123965964		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965964C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2214C>T	8.37:g.123965964C>T							p.C738C	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3049	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		738						Silent	SNP	ENST00000314393.4	37	c.2214C>T	CCDS6336.1																																																																																				0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		106	486	0	0	0	1	0	106	486					T	123965964	C	T	123965964	2	4	79	1	0	0	0	0	0	0	0	1	17729	776	27	1		1	ZHX2	8	123965964	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883	123965964	22398058	9665	19982											
DERL1	79139	broad.mit.edu	37	chr8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgtgatcgccgggatgCtcctgaaccagtctccgatg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	10					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(28-30)aGc>aAc		derlin 1							93	64	74					8																	124054334		2203	4300	6503	SO:0001583	missense	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124054334C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.29G>A	8.37:g.124054334C>T	ENSP00000259512:p.Ser10Asn					DERL1_ENST00000419562.2_Missense_Mutation_p.S10N|DERL1_ENST00000405944.3_Missense_Mutation_p.S10N	p.S10N	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	329	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		10					B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	c.29G>A	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439631	0.43326	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.34072	2.83;1.63;1.38	5.79	5.79	0.91817	.	0.114972	0.85682	D	0.000000	T	0.30135	0.0755	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.15052	0.002;0.012;0.008	T	0.04900	-1.0919	10	0.22706	T	0.39	.	20.039	0.97573	0.0:1.0:0.0:0.0	.	10;10;10	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	N	10	ENSP00000259512:S10N;ENSP00000384289:S10N;ENSP00000389965:S10N	ENSP00000259512:S10N	S	-	2	0	DERL1	124123515	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.261000	0.65496	2.743000	0.94032	0.453000	0.30009	AGC		0.667	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		32	129	0	0	0	1	0	32	129					T	124054334	C	T	124054334	3	4	79	1	0	0	0	0	1	0	0	0	4462	797	28	2	758	2	DERL1	8	124054334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88370	124054334	22309688	9666	19983											
WDR67	93594	broad.mit.edu	37	chr8	124138748	124138748	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttccttatctgttttagCtatatgcatggcctcttctt	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124138748C>A	ENST00000287380.1	+	13	1795	c.1705C>A	c.(1705-1707)Cta>Ata	p.L569I	TBC1D31_ENST00000378080.2_Splice_Site_p.L464I|TBC1D31_ENST00000521676.1_Splice_Site_p.L446I|TBC1D31_ENST00000518805.1_Splice_Site_p.L202I|TBC1D31_ENST00000309336.3_Splice_Site_p.L569I|TBC1D31_ENST00000522420.1_Splice_Site_p.L464I|TBC1D31_ENST00000327098.5_Splice_Site_p.L569I	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	569	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TCTGTTTTAGCTATATGCATG	0.343																																						ENST00000287380.1																			0											c.e13-1		TBC1 domain family, member 31							76	74	75					8																	124138748		2203	4300	6503	SO:0001630	splice_region_variant	93594							g.chr8:124138748C>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1705-1C>A	8.37:g.124138748C>A						TBC1D31_ENST00000522420.1_Splice_Site_p.L464_splice|TBC1D31_ENST00000309336.3_Splice_Site_p.L569_splice|TBC1D31_ENST00000378080.2_Splice_Site_p.L464_splice|TBC1D31_ENST00000327098.5_Splice_Site_p.L569_splice|TBC1D31_ENST00000521676.1_Splice_Site_p.L446_splice|TBC1D31_ENST00000518805.1_Splice_Site_p.L202_splice	p.L569_splice	NM_145647.3	NP_663622.2					13	1795	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	SNP	ENST00000287380.1	37	c.1704_splice	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491109	0.12702	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.86	-1.32	0.09201	Rab-GAP/TBC domain (3);	0.340162	0.27227	N	0.020328	T	0.24547	0.0595	N	0.25380	0.74	0.33094	D	0.538346	B;B;B;B	0.24675	0.014;0.019;0.078;0.109	B;B;B;B	0.37422	0.047;0.089;0.056;0.249	T	0.28713	-1.0035	9	.	.	.	-7.2556	7.5353	0.27706	0.0:0.1795:0.3623:0.4581	.	569;569;464;569	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	I	569;569;569;464;446;464;202	ENSP00000287380:L569I;ENSP00000308358:L569I;ENSP00000312701:L569I;ENSP00000429334:L464I;ENSP00000430628:L446I;ENSP00000367320:L464I;ENSP00000429494:L202I	.	L	+	1	2	WDR67	124207929	0.974000	0.33945	0.445000	0.26908	0.055000	0.15305	0.166000	0.16583	-0.130000	0.11599	0.650000	0.86243	CTA		0.343	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Missense_Mutation	16	211	1	0	7.05477e-17	1	7.76761e-17	16	211					A	124138748	C	A	124138748	5	1	79	1	0	0	0	0	0	0	1	0	17372	811	28	3	1755	3	WDR67	8	124138748	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84414	124138748	22225274	9667	19984											
FAM83A	84985	broad.mit.edu	37	chr8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtacccgaagtgtgtccGcgtcttcagggccctgtagc	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGTGTGTCCGCGTCTTCAGG	0.731																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1051-1053)Gcg>Acg		family with sequence similarity 83, member A							8	10	10					8																	124219674		2128	4194	6322	SO:0001583	missense	84985							g.chr8:124219674G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1051G>A	8.37:g.124219674G>A	ENSP00000428876:p.Ala351Thr					FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000276699.6_Intron	p.A351T			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3065	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		351			Ser-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1051G>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497489	0.04291	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.07908	3.15;3.15	4.16	-5.41	0.02648	.	2.848170	0.01218	N	0.008039	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37596	-0.9699	10	0.12430	T	0.62	0.1336	10.3161	0.43738	0.7465:0.0:0.1438:0.1097	.	351	Q86UY5	FA83A_HUMAN	T	351	ENSP00000428876:A351T;ENSP00000323034:A351T	ENSP00000323034:A351T	A	+	1	0	FAM83A	124288855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-1.745000	0.01337	-0.436000	0.05848	GCG		0.731	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		32	137	0	0	0	1	0	32	137					A	124219674	G	A	124219674	3	1	79	1	0	0	0	0	1	0	0	0	5658	1087	38	1	1065	1	FAM83A	8	124219674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80926	124219674	22144348	9668	19985											
C8orf76	84933	broad.mit.edu	37	chr8	124243660	124243660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttttctggctattactgCtattcgcttccacagaaaat	5	10	1	1	rs138956285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124243660C>T	ENST00000276704.4	-	4	746	c.695G>A	c.(694-696)aGc>aAc	p.S232N	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	232										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTATTACTGCTATTCGCTTC	0.383																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(694-696)aGc>aAc		chromosome 8 open reading frame 76		C	ASN/SER,ASN/SER	0,4406		0,0,2203	95	94	94		599,695	4.6	0	8	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C8orf76,ZHX1-C8ORF76	NM_001204180.1,NM_032847.2	46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	200/293,232/381	124243660	1,13005	2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243660C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.695G>A	8.37:g.124243660C>T	ENSP00000276704:p.Ser232Asn					C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N	p.S232N	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	746	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		232					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.695G>A	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006942	0.35415	0.0	1.16E-4	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.48	4.59	0.56863	.	0.506912	0.22723	N	0.056434	T	0.37376	0.1001	L	0.59436	1.845	0.09310	N	1	B;B	0.21520	0.021;0.057	B;B	0.18871	0.023;0.023	T	0.32955	-0.9887	9	0.07175	T	0.84	1.0844	8.1557	0.31167	0.1584:0.7615:0.0:0.0801	.	200;232	Q96EF9;Q96K31	.;CH076_HUMAN	N	232;200	.	ENSP00000276704:S232N	S	-	2	0	C8orf76	124312841	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	0.535000	0.23114	1.298000	0.44778	0.655000	0.94253	AGC		0.383	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		85	384	0	0	0	1	0	85	384					T	124243660	C	T	124243660	3	4	79	1	0	0	0	0	1	0	0	0	2444	797	28	2	459	2	C8orf76	8	124243660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23986	124243660	22120362	9669	19986											
KLHL38	340359	broad.mit.edu	37	chr8	124664939	124664939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtcaatgcctttcagCtgcactttggcttcactctt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCCTTTCAGCTGCACTTTGG	0.592																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(226-228)caG>caA		kelch-like family member 38							76	84	81					8																	124664939		2079	4200	6279	SO:0001819	synonymous_variant	340359							g.chr8:124664939C>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.228G>A	8.37:g.124664939C>T						CTD-2552K11.2_ENST00000524355.1_RNA	p.Q76Q	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	251	-			76			BTB.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.228G>A	CCDS43766.1																																																																																				0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			11	321	0	0	0	1	0	11	321					T	124664939	C	T	124664939	2	4	79	1	0	0	0	0	0	0	0	1	8420	796	28	2		2	KLHL38	8	124664939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421279	124664939	21699083	9670	19987											
KLHL38	340359	broad.mit.edu	37	chr8	124665022	124665022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggccagcacgttgcGgtggcaggggatctcccggg	19	11	1	0	rs369592276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124665022G>A	ENST00000325995.7	-	1	168	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	49	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCACGTTGCGGTGGCAGGGG	0.572																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(145-147)Cgc>Tgc		kelch-like family member 38		G	CYS/ARG	0,4114		0,0,2057	54	58	57		145	4.6	1	8		57	1,8425		0,1,4212	no	missense	KLHL38	NM_001081675.2	180	0,1,6269	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	49/582	124665022	1,12539	2057	4213	6270	SO:0001583	missense	340359							g.chr8:124665022G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.145C>T	8.37:g.124665022G>A	ENSP00000321475:p.Arg49Cys					CTD-2552K11.2_ENST00000524355.1_RNA	p.R49C	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	168	-			49			BTB.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.145C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022586	0.54683	0.0	1.19E-4	ENSG00000175946	ENST00000325995	T	0.75477	-0.94	5.52	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	H	0.98802	4.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94648	0.7836	10	0.87932	D	0	.	15.4823	0.75537	0.0:0.0:0.7771:0.2229	.	49	Q2WGJ6	KLH38_HUMAN	C	49	ENSP00000321475:R49C	ENSP00000321475:R49C	R	-	1	0	KLHL38	124734203	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.287000	0.33284	2.596000	0.87737	0.561000	0.74099	CGC		0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			62	327	0	0	0	1	0	62	327					A	124665022	G	A	124665022	3	1	79	1	0	0	0	0	1	0	0	0	8420	1116	39	1	1612	1	KLHL38	8	124665022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	124665022	21699000	9671	19988											
FAM91A1	157769	broad.mit.edu	37	chr8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctatcggatattatgGtgaaaggcttgaggataaca	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	87										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGATATTATGGTGAAAGGCTT	0.423																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(259-261)Gtg>Atg		family with sequence similarity 91, member A1							132	121	124					8																	124787488		1953	4144	6097	SO:0001583	missense	157769							g.chr8:124787488G>A	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.259G>A	8.37:g.124787488G>A	ENSP00000335082:p.Val87Met					FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	p.V87M	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	505	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		87					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.259G>A	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593471	0.86953	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.53206	0.63;1.21	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000001	T	0.72137	0.3423	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75958	-0.3134	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	87;87	E7ER68;Q658Y4	.;F91A1_HUMAN	M	87	ENSP00000429491:V87M;ENSP00000335082:V87M	ENSP00000335082:V87M	V	+	1	0	FAM91A1	124856669	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.655000	0.98512	2.495000	0.84180	0.655000	0.94253	GTG		0.423	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		45	277	0	0	0	1	0	45	277					A	124787488	G	A	124787488	3	1	79	1	0	0	0	0	1	0	0	0	5676	1261	44	2	269	2	FAM91A1	8	124787488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122466	124787488	21576534	9672	19989											
FAM91A1	157769	broad.mit.edu	37	chr8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcgattcaggccctcaActctctggatcactagatta	6	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	202										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGGCCCTCAACTCTCTGGAT	0.318																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(604-606)caA>caC		family with sequence similarity 91, member A1							117	109	112					8																	124792281		1864	4106	5970	SO:0001583	missense	157769							g.chr8:124792281A>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.606A>C	8.37:g.124792281A>C	ENSP00000335082:p.Gln202His					FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	p.Q202H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		7	852	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		202					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.606A>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265700	0.80358	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47869	0.83;1.41	5.51	-7.82	0.01205	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.74250	-0.3726	10	0.59425	D	0.04	.	17.649	0.88157	0.6315:0.0:0.3685:0.0	.	202;202	E7ER68;Q658Y4	.;F91A1_HUMAN	H	202	ENSP00000429491:Q202H;ENSP00000335082:Q202H	ENSP00000335082:Q202H	Q	+	3	2	FAM91A1	124861462	0.993000	0.37304	0.698000	0.30274	0.994000	0.84299	0.228000	0.17814	-1.609000	0.01585	-0.396000	0.06452	CAA		0.318	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		61	232	0	0	0	1	0	61	232					C	124792281	A	C	124792281	3	2	79	1	0	0	0	0	1	0	0	0	5676	40	2	4	632	4	FAM91A1	8	124792281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4793	124792281	21571741	9673	19990											
FER1L6	654463	broad.mit.edu	37	chr8	124992756	124992756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctgtatggctcgcccaGgaaccacagtctgatggatg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124992756G>A	ENST00000522917.1	+	11	1321	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	372						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCTCGCCCAGGAACCACAGT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1114-1116)aGg>aAg		fer-1-like 6 (C. elegans)							102	104	103					8																	124992756		1876	4093	5969	SO:0001583	missense	654463					integral to membrane		g.chr8:124992756G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1115G>A	8.37:g.124992756G>A	ENSP00000428280:p.Arg372Lys		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1321	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		372						Missense_Mutation	SNP	ENST00000522917.1	37	c.1115G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099226	0.94197	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82803	-1.65;-1.65	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.073530	0.52532	U	0.000064	D	0.90369	0.6986	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88672	0.3196	10	0.36615	T	0.2	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	372	Q2WGJ9	FR1L6_HUMAN	K	372	ENSP00000428280:R372K;ENSP00000381982:R372K	ENSP00000381982:R372K	R	+	2	0	FER1L6	125061937	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.607000	0.88179	0.655000	0.94253	AGG		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		29	582	0	0	0	1	0	29	582					A	124992756	G	A	124992756	3	1	79	1	0	0	0	0	1	0	0	0	5840	1000	35	2	1153	2	FER1L6	8	124992756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200475	124992756	21371266	9674	19991											
FER1L6	654463	broad.mit.edu	37	chr8	125047562	125047562	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctgtgcaagcaaaagtCgacgtgtacctgtggctggg	15	8	1	0	rs199510818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	777						integral component of membrane (GO:0016021)		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2329-2331)gtC>gtT		fer-1-like 6 (C. elegans)							98	98	98					8																	125047562		1948	4153	6101	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125047562C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2331C>T	8.37:g.125047562C>T						FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V	p.V777V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2537	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		777						Silent	SNP	ENST00000522917.1	37	c.2331C>T	CCDS43767.1																																																																																				0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		28	405	0	0	0	1	0	28	405					T	125047562	C	T	125047562	2	4	79	1	0	0	0	0	0	0	0	1	5840	871	31	1		1	FER1L6	8	125047562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54806	125047562	21316460	9675	19992											
FER1L6	654463	broad.mit.edu	37	chr8	125072466	125072466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccacccgttgagccaccaGacatcacccagatctacccg	6	19	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125072466G>A	ENST00000522917.1	+	23	3126	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	974						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGCCACCAGACATCACCCA	0.572																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2920-2922)Gac>Aac		fer-1-like 6 (C. elegans)							105	117	113					8																	125072466		2195	4296	6491	SO:0001583	missense	654463					integral to membrane		g.chr8:125072466G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2920G>A	8.37:g.125072466G>A	ENSP00000428280:p.Asp974Asn					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N	p.D974N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3126	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		974						Missense_Mutation	SNP	ENST00000522917.1	37	c.2920G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537410	0.65085	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82433	-1.61;-1.61	5.65	4.78	0.61160	.	0.062856	0.64402	U	0.000008	D	0.87752	0.6256	M	0.67700	2.07	0.51767	D	0.999935	D	0.65815	0.995	P	0.60949	0.881	D	0.85856	0.1407	10	0.26408	T	0.33	-7.5478	14.0915	0.64993	0.0731:0.0:0.9269:0.0	.	974	Q2WGJ9	FR1L6_HUMAN	N	974	ENSP00000428280:D974N;ENSP00000381982:D974N	ENSP00000381982:D974N	D	+	1	0	FER1L6	125141647	1.000000	0.71417	0.150000	0.22450	0.175000	0.22909	5.110000	0.64622	1.402000	0.46780	0.655000	0.94253	GAC		0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		10	544	0	0	0	1	0	10	544					A	125072466	G	A	125072466	3	1	79	1	0	0	0	0	1	0	0	0	5840	942	33	2	3006	2	FER1L6	8	125072466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24904	125072466	21291556	9676	19993											
FER1L6	654463	broad.mit.edu	37	chr8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccttccccctcagccGcccagacacctccttttcgt	4	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5392-5394)cGc>cAc		fer-1-like 6 (C. elegans)							150	149	149					8																	125131850		1922	4125	6047	SO:0001583	missense	654463					integral to membrane		g.chr8:125131850G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H	p.R1798H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5599	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1798						Missense_Mutation	SNP	ENST00000522917.1	37	c.5393G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		58	514	0	0	0	1	0	58	514					A	125131850	G	A	125131850	3	1	79	1	0	0	0	0	1	0	0	0	5840	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59384	125131850	21232172	9677	19994											
NDUFB9	4715	broad.mit.edu	37	chr8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagagatacgattgctAcaaggtaggtgagaattatg	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000276689.3	+	2	374	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000522532.1_Missense_Mutation_p.Y97C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACGATTGCTACAAGGTAGGT	0.493																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(289-291)tAc>tGc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						80	73	75					8																	125555516		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555516A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7704	protein-coding gene	gene with protein product	"complex I B22 subunit"	601445	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.290A>G	8.37:g.125555516A>G	ENSP00000276689:p.Tyr97Cys					NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000276689.3_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C	p.Y97C			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	337	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		97					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.290A>G	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981916	0.74474	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.75;-0.69	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.178;1.0	B;D	0.66979	0.076;0.948	D	0.90846	0.4727	10	0.56958	D	0.05	-18.4647	15.5444	0.76086	1.0:0.0:0.0:0.0	.	97;97	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	97;97;97;86	ENSP00000276689:Y97C;ENSP00000428282:Y97C;ENSP00000431115:Y97C;ENSP00000430322:Y86C	ENSP00000276689:Y97C	Y	+	2	0	NDUFB9	125624697	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.852000	0.92215	2.070000	0.61991	0.533000	0.62120	TAC		0.493	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		13	247	0	0	0	1	0	13	247					G	125555516	A	G	125555516	3	3	79	1	0	0	0	0	1	0	0	0	10330	391	14	4	296	4	NDUFB9	8	125555516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	423666	125555516	20808506	9678	19995											
MTSS1	9788	broad.mit.edu	37	chr8	125575120	125575120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggacacgctggacagcCtcacaggagcctgctgggcc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125575120C>A	ENST00000518547.1	-	10	1411	c.938G>T	c.(937-939)aGg>aTg	p.R313M	MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	313	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGGACAGCCTCACAGGAGC	0.622																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(937-939)aGg>aTg		metastasis suppressor 1							57	49	52					8																	125575120		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125575120C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.938G>T	8.37:g.125575120C>A	ENSP00000429064:p.Arg313Met					MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M	p.R313M	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1411	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		313			Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.938G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.426790|4.426790	0.83667|0.83667	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.|T;T;T;T;T;T;T;T	.|0.62788	.|1.15;1.01;1.1;0.0;1.03;1.1;0.84;0.33	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81074|0.81074	0.4747|0.4747	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.997;0.997;0.999;0.997;0.999;0.997	T|T	0.82096|0.82096	-0.0626|-0.0626	5|10	.|0.72032	.|D	.|0.01	-22.8088|-22.8088	19.9823|19.9823	0.97331|0.97331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;47;313;313;313;113	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.|.;.;.;MTSS1_HUMAN;.;.	D|M	60;160|313;313;113;47;317;113;203;113	.|ENSP00000367256:R313M;ENSP00000429064:R313M;ENSP00000346119:R113M;ENSP00000378884:R47M;ENSP00000322804:R317M;ENSP00000393606:R113M;ENSP00000428319:R203M;ENSP00000428145:R113M	.|ENSP00000322804:R317M	E|R	-|-	3|2	2|0	MTSS1|MTSS1	125644301|125644301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.528000|0.528000	0.34623|0.34623	7.818000|7.818000	0.86416|0.86416	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		9	194	1	0	5.4927e-09	1	5.7613e-09	9	194					A	125575120	C	A	125575120	3	1	79	1	0	0	0	0	1	0	0	0	10003	681	24	3	1349	3	MTSS1	8	125575120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19604	125575120	20788902	9679	19996											
MTSS1	9788	broad.mit.edu	37	chr8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagatgaaggtacagaatCggccacgttcttcaatcaaa	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000518547.1	-	7	1054	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	194	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTACAGAATCGGCCACGTTC	0.438																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(580-582)cGa>cAa		metastasis suppressor 1							105	89	94					8																	125580657		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125580657C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.581G>A	8.37:g.125580657C>T	ENSP00000429064:p.Arg194Gln					MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000354184.4_5'UTR	p.R194Q	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	1054	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		194			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.581G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382456	0.95967	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.58652	0.67;0.75;0.73;0.32	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.061993	0.64402	D	0.000004	T	0.75280	0.3828	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.97110	0.697;1.0;0.998;0.999	T	0.74544	-0.3630	10	0.52906	T	0.07	-14.0004	19.861	0.96785	0.0:1.0:0.0:0.0	.	84;194;194;194	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	Q	194;194;198;84	ENSP00000367256:R194Q;ENSP00000429064:R194Q;ENSP00000322804:R198Q;ENSP00000428319:R84Q	ENSP00000322804:R198Q	R	-	2	0	MTSS1	125649838	1.000000	0.71417	0.931000	0.37212	0.737000	0.42083	7.689000	0.84165	2.767000	0.95098	0.655000	0.94253	CGA		0.438	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		51	295	0	0	0	1	0	51	295					T	125580657	C	T	125580657	3	4	79	1	0	0	0	0	1	0	0	0	10003	884	31	1	1718	1	MTSS1	8	125580657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5537	125580657	20783365	9680	19997											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109	103	105					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		23	209	0	0	0	1	0	23	209					A	126030321	G	A	126030321	3	1	79	1	0	0	0	0	1	0	0	0	15180	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449664	126030321	20333701	9681	19998											
KIAA0196	9897	broad.mit.edu	37	chr8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatataaaagtgtgttatCttctttggggtaaggaagtg	11	3	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1006					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3016-3018)Gat>Tat		KIAA0196							146	148	147					8																	126051140		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126051140C>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3016G>T	8.37:g.126051140C>A	ENSP00000318016:p.Asp1006Tyr					KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	p.D1006Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		25	3365	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1006					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3016G>T	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837395|4.837395	0.91117|0.91117	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.180662|.	0.64402|.	D|.	0.000020|.	T|T	0.77212|0.77212	0.4097|0.4097	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.975|.	D;P|.	0.71414|.	0.973;0.88|.	T|T	0.74481|0.74481	-0.3651|-0.3651	10|5	0.72032|.	D|.	0.01|.	-17.7857|-17.7857	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;1006|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Y|N	1006;858|622	ENSP00000318016:D1006Y;ENSP00000429676:D858Y|.	ENSP00000318016:D1006Y|.	D|K	-|-	1|3	0|2	KIAA0196|KIAA0196	126120322|126120322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		31	741	1	0	1.36615e-20	1	1.53219e-20	31	741					A	126051140	C	A	126051140	3	1	79	1	0	0	0	0	1	0	0	0	8191	913	32	3	483	3	KIAA0196	8	126051140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20819	126051140	20312882	9682	19999											
KIAA0196	9897	broad.mit.edu	37	chr8	126093973	126093973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttggtcaatgaccagtaGcataactccatataagtaca	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000521109.1_5'Flank|KIAA0196_ENST00000517845.1_Silent_p.L2L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	150					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(448-450)Cta>Tta		KIAA0196							159	134	142					8																	126093973		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126093973G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.448C>T	8.37:g.126093973G>A						KIAA0196_ENST00000517845.1_Silent_p.L2L	p.L150L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		5	797	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		150					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.448C>T	CCDS6355.1																																																																																				0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		49	287	0	0	0	1	0	49	287					A	126093973	G	A	126093973	2	1	79	1	0	0	0	0	0	0	0	1	8191	962	34	2		2	KIAA0196	8	126093973	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42833	126093973	20270049	9683	20000											
ASAP1	50807	broad.mit.edu	37	chr8	131146542	131146542	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttcaaaactacttacGctacataatcctgctcatct	2	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000518721.1	-	15	1444	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000357668.1_Splice_Site_p.A406V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	406	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTACTTACGCTACATAATC	0.328																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.e14+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							164	147	153					8																	131146542		2203	4300	6503	SO:0001630	splice_region_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131146542G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1217+1C>T	8.37:g.131146542G>A						ASAP1_ENST00000518721.1_Splice_Site_p.A406_splice	p.A406_splice			Q9ULH1	ASAP1_HUMAN			14	1244	-			406			PH.		B2RNV3	Splice_Site	SNP	ENST00000518721.1	37	c.1217_splice	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180911	0.21787	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.76578	-1.03;-1.03	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105801	0.64402	D	0.000005	T	0.69504	0.3118	L	0.43646	1.37	0.80722	D	1	B;B;P	0.37061	0.428;0.428;0.58	B;B;B	0.26770	0.051;0.051;0.073	T	0.67894	-0.5552	9	.	.	.	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	406;406;409	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	409;406;406	ENSP00000350297:A406V;ENSP00000429900:A406V	.	A	-	2	0	ASAP1	131215724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.811000	0.96726	0.655000	0.94253	GCA		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	Missense_Mutation	46	173	0	0	0	1	0	46	173					A	131146542	G	A	131146542	5	1	79	1	0	0	0	0	0	0	1	0	1011	1101	38	1	2236	1	ASAP1	8	131146542	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052569	131146542	15217480	9684	20001											
ADCY8	114	broad.mit.edu	37	chr8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctactcaccaatccGgagttcaaaattgttgaatg	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3262-3264)Cgg>Tgg		adenylate cyclase 8 (brain)							120	112	115					8																	131795943		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131795943G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3262C>T	8.37:g.131795943G>A	ENSP00000286355:p.Arg1088Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	p.R1088W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		17	5354	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1088						Missense_Mutation	SNP	ENST00000286355.5	37	c.3262C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595263	0.86953	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.88277	-2.36;-2.36	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	H	0.98466	4.24	0.40008	D	0.975253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98911	1.0780	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	957;1088	E7EVL1;P40145	.;ADCY8_HUMAN	W	1088;957	ENSP00000286355:R1088W;ENSP00000367161:R957W	ENSP00000286355:R1088W	R	-	1	2	ADCY8	131865125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.911000	0.56378	2.681000	0.91329	0.655000	0.94253	CGG		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			40	202	0	0	0	1	0	40	202					A	131795943	G	A	131795943	3	1	79	1	0	0	0	0	1	0	0	0	300	1115	39	1	501	1	ADCY8	8	131795943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649401	131795943	14568079	9685	20002											
ADCY8	114	broad.mit.edu	37	chr8	131859759	131859759	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaaatcacaccacaGctgcggattaaaaaaaaaaa	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	805					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.e11-1		adenylate cyclase 8 (brain)							46	47	47					8																	131859759		2203	4300	6503	SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131859759G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2413-1C>T	8.37:g.131859759G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.L805_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	4505	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		805						Splice_Site	SNP	ENST00000286355.5	37	c.2412_splice	CCDS6363.1																																																																																				0.388	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Silent	15	61	0	0	0	1	0	15	61					A	131859759	G	A	131859759	5	1	79	1	0	0	0	0	0	0	1	0	300	985	34	2	1374	2	ADCY8	8	131859759	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63816	131859759	14504263	9686	20003											
EFR3A	23167	broad.mit.edu	37	chr8	132952824	132952824	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctgaagatccaaaagTaatttgatctacatctactg	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							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)			GATCCAAAAGTAATTTGATCT	0.428																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e2+2		EFR3 homolog A (S. cerevisiae)							74	78	76					8																	132952824		2122	4249	6371	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:132952824T>C	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.87+2T>C	8.37:g.132952824T>C						EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site		NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		2	312	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701431	0.88924	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5597	0.76234	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133022006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.269000	0.75478	0.454000	0.30748	.		0.428	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	9	61	0	0	0	1	0	9	61					C	132952824	T	C	132952824	5	2	79	1	0	0	0	0	0	0	1	0	4974	1652	57	4	95	4	EFR3A	8	132952824	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1093065	132952824	13411198	9687	20004											
EFR3A	23167	broad.mit.edu	37	chr8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtctccttcaggctcaGtattctcaccatgtgatcca	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	287						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)			TTCAGGCTCAGTATTCTCACC	0.413																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(859-861)caG>caT		EFR3 homolog A (S. cerevisiae)							93	81	85					8																	132980547		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132980547G>T	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.861G>T	8.37:g.132980547G>T	ENSP00000254624:p.Gln287His					EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H|EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H	p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		9	1086	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		287					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.861G>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868286	0.72065	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.49720	0.77;0.77;0.77	5.66	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.81112	2.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.66814	-0.5828	10	0.87932	D	0	-1.3492	6.3182	0.21202	0.1352:0.0:0.6941:0.1707	.	287	Q14156	EFR3A_HUMAN	H	287;287;287;251	ENSP00000254624:Q287H;ENSP00000334769:Q287H;ENSP00000428086:Q251H	ENSP00000254624:Q287H	Q	+	3	2	EFR3A	133049729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.014000	0.40951	1.356000	0.45884	0.655000	0.94253	CAG		0.413	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		25	118	1	0	7.92952e-12	1	8.47903e-12	25	118					T	132980547	G	T	132980547	3	4	79	1	0	0	0	0	1	0	0	0	4974	1020	36	3	895	3	EFR3A	8	132980547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	132980547	13383475	9688	20005											
EFR3A	23167	broad.mit.edu	37	chr8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatctgcgtctcagcGttgaattcgaagcaaatgat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	349						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S348fs*15(1)		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)			GCGTCTCAGCGTTGAATTCGA	0.398																																						ENST00000254624.5																			1	Deletion - Frameshift(1)	p.S348fs*15(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1045-1047)Gtt>Att		EFR3 homolog A (S. cerevisiae)							100	93	95					8																	132982776		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132982776G>A	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.1045G>A	8.37:g.132982776G>A	ENSP00000254624:p.Val349Ile					EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I|EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I	p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		10	1270	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		349					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1045G>A	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441885	0.83993	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.35048	1.33;1.33;1.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.43923	1.385	0.80722	D	1	P	0.35401	0.499	B	0.29785	0.107	T	0.05022	-1.0911	10	0.25751	T	0.34	-23.4206	18.4707	0.90773	0.0:0.0:1.0:0.0	.	349	Q14156	EFR3A_HUMAN	I	349;349;349;313	ENSP00000254624:V349I;ENSP00000334769:V349I;ENSP00000428086:V313I	ENSP00000254624:V349I	V	+	1	0	EFR3A	133051958	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.473000	0.97714	2.622000	0.88805	0.591000	0.81541	GTT		0.398	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		38	185	0	0	0	1	0	38	185					A	132982776	G	A	132982776	3	1	79	1	0	0	0	0	1	0	0	0	4974	1145	40	1	1083	1	EFR3A	8	132982776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2229	132982776	13381246	9689	20006											
EFR3A	23167	broad.mit.edu	37	chr8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgctcttataactaTtgaactggctaatgaagaag	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	560						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)			CTTATAACTATTGAACTGGCT	0.363																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1678-1680)aTt>aCt		EFR3 homolog A (S. cerevisiae)							128	127	127					8																	132996489		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132996489T>C	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.1679T>C	8.37:g.132996489T>C	ENSP00000254624:p.Ile560Thr					EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T	p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		15	1904	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		560					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1679T>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603648	0.87157	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39406	1.08;1.08;1.09	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.80722	D	1	P	0.41131	0.739	B	0.40901	0.343	T	0.49093	-0.8975	10	0.87932	D	0	-25.7963	15.7305	0.77800	0.0:0.0:0.0:1.0	.	560	Q14156	EFR3A_HUMAN	T	560;560;560;524	ENSP00000254624:I560T;ENSP00000334769:I560T;ENSP00000428086:I524T	ENSP00000254624:I560T	I	+	2	0	EFR3A	133065671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.299000	0.77371	0.528000	0.53228	ATT		0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		67	318	0	0	0	1	0	67	318					C	132996489	T	C	132996489	3	2	79	1	0	0	0	0	1	0	0	0	4974	1493	52	4	1737	4	EFR3A	8	132996489	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13713	132996489	13367533	9690	20007											
OC90	729330	broad.mit.edu	37	chr8	133053837	133053837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaccatagtcttcaaaGtctcgggggcagagaccagc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000443356.2	-	5	365	c.279C>T	c.(277-279)gaC>gaT	p.D93D	OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D|OC90_ENST00000262283.5_Silent_p.D289D			Q02509	OC90_HUMAN	otoconin 90	93	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(865-867)gaC>gaT		otoconin 90							47	49	49					8																	133053837		1998	4164	6162	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053837G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.279C>T	8.37:g.133053837G>A						OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000443356.2_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D	p.D289D			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	966	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		93					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.867C>T																																																																																					0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		40	174	0	0	0	1	0	40	174					A	133053837	G	A	133053837	2	1	79	1	0	0	0	0	0	0	0	1	10856	1020	36	2		2	OC90	8	133053837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57348	133053837	13310185	9691	20008											
KCNQ3	3786	broad.mit.edu	37	chr8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtgcatccacctctgGgacgtctttctcaaccaggt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCACCTCTGGGACGTCTTTC	0.502																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(859-861)Cca>Tca		potassium voltage-gated channel, KQT-like subfamily, member 3							135	127	130					8																	133187774		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133187774G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.859C>T	8.37:g.133187774G>A	ENSP00000373648:p.Pro287Ser					KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S	p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	1279	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		287					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.859C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174095	0.57692	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97430	-4.38;-4.38;-4.38	5.39	5.39	0.77823	Ion transport (1);	0.061356	0.64402	D	0.000003	D	0.96703	0.8924	L	0.39514	1.22	0.40614	D	0.981702	P;B	0.48089	0.905;0.44	P;B	0.52823	0.71;0.138	D	0.97520	1.0072	10	0.66056	D	0.02	-15.9165	18.5028	0.90888	0.0:0.0:1.0:0.0	.	287;287	E7ET42;O43525	.;KCNQ3_HUMAN	S	287;167;287;276;166	ENSP00000373648:P287S;ENSP00000429799:P167S;ENSP00000428790:P287S	ENSP00000373648:P287S	P	-	1	0	KCNQ3	133256956	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.478000	0.60230	2.674000	0.91012	0.655000	0.94253	CCA		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		54	318	0	0	0	1	0	54	318					A	133187774	G	A	133187774	3	1	79	1	0	0	0	0	1	0	0	0	8114	1232	43	2	1803	2	KCNQ3	8	133187774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133937	133187774	13176248	9692	20009											
LRRC6	23639	broad.mit.edu	37	chr8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccaggatgatctgctTttcgttatctttcaaagaga	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000519595.1	-	8	1041	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	315	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(943-945)Aag>Cag		leucine rich repeat containing 6							82	84	83					8																	133627315		2202	4294	6496	SO:0001583	missense	23639					cytoplasm		g.chr8:133627315T>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.943A>C	8.37:g.133627315T>G	ENSP00000429791:p.Lys315Gln					LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q	p.K315Q			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1041	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		315			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.943A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.334786|1.334786	0.24253|0.24253	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.50813|.	0.73;0.95;0.73|.	4.93|4.93	2.54|2.54	0.30619|0.30619	CS-like domain (1);|.	0.318240|0.318240	0.35436|0.35436	N|N	0.003212|0.003212	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.58669|0.58669	1.825|1.825	0.21499|0.21499	N|N	0.999661|0.999661	P|.	0.42735|.	0.788|.	B|.	0.24006|.	0.05|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.41790|.	T|.	0.15|.	-18.0453|-18.0453	5.7871|5.7871	0.18338|0.18338	0.0:0.2776:0.0:0.7224|0.0:0.2776:0.0:0.7224	.|.	315|.	Q86X45|.	LRRC6_HUMAN|.	Q|T	315|36	ENSP00000429791:K315Q;ENSP00000428610:K315Q;ENSP00000250173:K315Q|.	ENSP00000250173:K315Q|.	K|K	-|-	1|2	0|0	LRRC6|LRRC6	133696497|133696497	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.664000|0.664000	0.39144|0.39144	1.613000|1.613000	0.36900|0.36900	0.831000|0.831000	0.34780|0.34780	0.460000|0.460000	0.39030|0.39030	AAG|AAA		0.313	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		54	223	0	0	0	1	0	54	223					G	133627315	T	G	133627315	3	3	79	1	0	0	0	0	1	0	0	0	9054	1850	64	4	477	4	LRRC6	8	133627315	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	439541	133627315	12736707	9693	20010											
LRRC6	23639	broad.mit.edu	37	chr8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtttcctctgagcctcttCcttgagtttggctcgtttaa	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000519595.1	-	5	651	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	185					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(553-555)Gaa>Aaa		leucine rich repeat containing 6							318	283	295					8																	133645086		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645086C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.553G>A	8.37:g.133645086C>T	ENSP00000429791:p.Glu185Lys					LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K	p.E185K			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	651	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		185					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.553G>A		.	.	.	.	.	.	.	.	.	.	C	12.30	1.895431	0.33442	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.56275	0.63;0.47;0.63	5.23	3.44	0.39384	.	0.437579	0.26514	N	0.023948	T	0.36936	0.0985	L	0.28192	0.835	0.36467	D	0.867013	B	0.24368	0.102	B	0.20184	0.028	T	0.30001	-0.9993	10	0.29301	T	0.29	-12.1542	10.9021	0.47058	0.0:0.8472:0.0:0.1528	.	185	Q86X45	LRRC6_HUMAN	K	185	ENSP00000429791:E185K;ENSP00000428610:E185K;ENSP00000250173:E185K	ENSP00000250173:E185K	E	-	1	0	LRRC6	133714268	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	2.502000	0.45398	0.705000	0.31890	0.555000	0.69702	GAA		0.423	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		145	708	0	0	0	1	0	145	708					T	133645086	C	T	133645086	3	4	79	1	0	0	0	0	1	0	0	0	9054	864	30	2	879	2	LRRC6	8	133645086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17771	133645086	12718936	9694	20011											
PHF20L1	51105	broad.mit.edu	37	chr8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctacatctagtgaaacatTtggtacaaaatacattctta	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	240							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGAAACATTTGGTACAAAA	0.353																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(718-720)tTt>tGt		PHD finger protein 20-like 1							84	70	75					8																	133816275		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133816275T>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.719T>G	8.37:g.133816275T>G	ENSP00000378784:p.Phe240Cys					PHF20L1_ENST00000395383.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395374.1_Missense_Mutation_p.F79C|PHF20L1_ENST00000395382.3_Missense_Mutation_p.F110C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000315808.10_Missense_Mutation_p.F240C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000220847.7_5'UTR	p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		7	1018	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		240					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.719T>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721680	0.68959	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.53423	0.77;0.8;0.76;1.39;0.76;0.82;0.62;1.4	5.44	5.44	0.79542	.	0.355484	0.32836	N	0.005589	T	0.55257	0.1909	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.986	D;D;D;D;P	0.80764	0.976;0.919;0.994;0.965;0.794	T	0.54906	-0.8223	10	0.38643	T	0.18	-2.061	14.6865	0.69052	0.0:0.0:0.0:1.0	.	214;79;240;240;214	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	244;240;214;240;240;214;244;110;214;79	ENSP00000378781:F244C;ENSP00000378777:F240C;ENSP00000355301:F214C;ENSP00000378784:F240C;ENSP00000324519:F240C;ENSP00000338269:F214C;ENSP00000378775:F244C;ENSP00000378788:F214C	ENSP00000324519:F240C	F	+	2	0	PHF20L1	133885457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.182000	0.58310	2.073000	0.62155	0.477000	0.44152	TTT		0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		41	177	0	0	0	1	0	41	177					G	133816275	T	G	133816275	3	3	79	1	0	0	0	0	1	0	0	0	11874	1841	64	4	741	4	PHF20L1	8	133816275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171189	133816275	12547747	9695	20012											
PHF20L1	51105	broad.mit.edu	37	chr8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaccactttccccagaatTaatacaagtcgaggatttga	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	374							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCCCAGAATTAATACAAGTC	0.368																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1120-1122)tTa>tGa		PHD finger protein 20-like 1							116	112	113					8																	133827072		2203	4299	6502	SO:0001587	stop_gained	51105						nucleic acid binding|zinc ion binding	g.chr8:133827072T>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1121T>G	8.37:g.133827072T>G	ENSP00000378784:p.Leu374*					PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.L378*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.L244*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.L374*|PHF20L1_ENST00000220847.7_5'UTR	p.L374*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		10	1420	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		374					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	c.1121T>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	38	6.924387	0.97940	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	.	.	.	5.98	5.98	0.97165	.	0.840981	0.10934	N	0.618005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9413	15.6508	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	X	378;349;374;374;244;349	.	ENSP00000324519:L374X	L	+	2	0	PHF20L1	133896254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTA		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		91	443	0	0	0	1	0	91	443					G	133827072	T	G	133827072	4	3	79	1	0	0	0	0	0	1	0	0	11874	1764	61	4	1161	4	PHF20L1	8	133827072	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10797	133827072	12536950	9696	20013											
PHF20L1	51105	broad.mit.edu	37	chr8	133837585	133837586	+	Frame_Shift_Ins	INS	-	-	A													gaccaaaacagaagaagaagINSaaaaaaaagaaaaagaaatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133837585_133837586insA	ENST00000395386.2	+	14	2012_2013	c.1713_1714insA	c.(1714-1716)aaafs	p.K572fs	PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.K547fs|PHF20L1_ENST00000220847.7_5'UTR|CTC-137K3.1_ENST00000602328.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	572	Lys-rich.						zinc ion binding (GO:0008270)	p.K545K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			agaagaagaagaaaaaaaagaa	0.297																																						ENST00000395386.2																			1	Substitution - coding silent(1)	p.K545K(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1711-1716)aaaaaafs		PHD finger protein 20-like 1																																				SO:0001589	frameshift_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133837585_133837586insA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1721dupA	8.37:g.133837593_133837593dupA	ENSP00000378784:p.Lys572fs					PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.KK546fs|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_3'UTR	p.KK571fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		14	2012_2013	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		571			Lys-rich.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Ins	INS	ENST00000395386.2	37	c.1713_1714insA	CCDS6367.2																																																																																				0.297	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		8	69						8	69	---	---	---	---	A	133837586	-	A	133837585	7	5	79	1	0	1	1	0	0	0	0	0	11874	933	33	0	1859	0	PHF20L1	8	133837585	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	10513	133837585	12526437	9697	20014											
TG	7038	broad.mit.edu	37	chr8	133919108	133919108	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcctggagagcggacgCtgggagtcacagctgcctca	15	11	2	1	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1270					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)				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)		AGAGCGGACGCTGGGAGTCAC	0.642																																						ENST00000220616.4																			0				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						c.(3808-3810)cgC>cgA		thyroglobulin							33	28	30					8																	133919108		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133919108C>A	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.3810C>A	8.37:g.133919108C>A						TG_ENST00000377869.1_Silent_p.R1270R	p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	17	3850	+	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)	1270					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3810C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.42	3.47	0.39725	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52968	-0.8504	4	.	.	.	.	8.0575	0.30614	0.1816:0.6431:0.1753:0.0	rs61747463	.	.	.	D	214	.	.	A	+	2	0	TG	133988290	0.180000	0.23148	0.857000	0.33713	0.795000	0.44927	0.416000	0.21198	1.241000	0.43820	0.609000	0.83330	GCT		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		25	112	1	0	6.12954e-19	1	6.81806e-19	25	112					A	133919108	C	A	133919108	2	1	79	1	0	0	0	0	0	0	0	1	15865	784	28	3		3	TG	8	133919108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81523	133919108	12444914	9698	20015											
TG	7038	broad.mit.edu	37	chr8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtcagctcgcagagaTaacagagagtgcatccttgt	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000542445.1_Missense_Mutation_p.I279T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1909					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)				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)		CTCGCAGAGATAACAGAGAGT	0.502																																						ENST00000220616.4																			0				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						c.(5725-5727)aTa>aCa		thyroglobulin							84	67	73					8																	133980078		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133980078T>C	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.5726T>C	8.37:g.133980078T>C	ENSP00000220616:p.Ile1909Thr					TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000542445.1_Missense_Mutation_p.I279T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T	p.I1909T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5766	+	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)	1909					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5726T>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.346|8.346	0.829904|0.829904	0.16749|0.16749	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000518058	T;T;T;T|.	0.70749|.	-0.29;-0.3;-0.5;-0.51|.	5.77|5.77	4.55|4.55	0.56014|0.56014	.|.	0.806159|.	0.11516|.	N|.	0.556198|.	T|.	0.56001|.	0.1956|.	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;P;P|.	0.37276|.	0.363;0.589;0.514|.	B;B;B|.	0.33392|.	0.039;0.163;0.122|.	T|.	0.50250|.	-0.8850|.	10|.	0.87932|.	D|.	0|.	.|.	10.3|10.3	0.43646|0.43646	0.0:0.0:0.1644:0.8356|0.0:0.0:0.1644:0.8356	.|.	63;279;1909|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|Q	1852;715;1909;279;63|41	ENSP00000367100:I1852T;ENSP00000220616:I1909T;ENSP00000441693:I279T;ENSP00000430430:I63T|.	ENSP00000220616:I1909T|.	I|X	+|+	2|1	0|0	TG|TG	134049260|134049260	0.417000|0.417000	0.25432|0.25432	0.027000|0.027000	0.17364|0.17364	0.052000|0.052000	0.14988|0.14988	5.197000|5.197000	0.65141|0.65141	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		33	133	0	0	0	1	0	33	133					C	133980078	T	C	133980078	3	2	79	1	0	0	0	0	1	0	0	0	15865	1406	49	4	5848	4	TG	8	133980078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60970	133980078	12383944	9699	20016											
TG	7038	broad.mit.edu	37	chr8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaacccaacctggggctGtgagatgtatgttctatgct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000542445.1_Missense_Mutation_p.V522M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					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.V2152L(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)		ACCTGGGGCTGTGAGATGTAT	0.517																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.V2152L(1)	lung(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						c.(6454-6456)Gtg>Atg		thyroglobulin							131	113	119					8																	134025901		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134025901G>A	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.6454G>A	8.37:g.134025901G>A	ENSP00000220616:p.Val2152Met					TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000542445.1_Missense_Mutation_p.V522M|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.V2095M	p.V2152M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6494	+	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)	2152					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6454G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822879|0.822879	0.16678|0.16678	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70164	.|-0.25;-0.27;-0.46;-0.44	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22414	.|0.042;0.069;0.042	.|B;B;B	.|0.24701	.|0.028;0.055;0.046	T|T	0.52609|0.52609	-0.8553|-0.8553	5|10	.|0.62326	.|D	.|0.03	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	607|2095;958;2152;522;285	.|ENSP00000367100:V2095M;ENSP00000220616:V2152M;ENSP00000441693:V522M;ENSP00000430430:V285M	.|ENSP00000220616:V2152M	C|V	+|+	2|1	0|0	TG|TG	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		74	287	0	0	0	1	0	74	287					A	134025901	G	A	134025901	3	1	79	1	0	0	0	0	1	0	0	0	15865	1377	48	2	6600	2	TG	8	134025901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45823	134025901	12338121	9700	20017											
SLA	6503	broad.mit.edu	37	chr8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaggagccgacctttgtgtCtggcagctgcagcagctcct	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000338087.5	-	6	1123	c.304G>A	c.(304-306)Gac>Aac	p.D102N	TG_ENST00000377869.1_Intron|SLA_ENST00000518565.1_5'Flank|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCTTTGTGTCTGGCAGCTGC	0.572																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(304-306)Gac>Aac		Src-like-adaptor							66	66	66					8																	134060123		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134060123C>T		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.304G>A	8.37:g.134060123C>T	ENSP00000337548:p.Asp102Asn					TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|TG_ENST00000377869.1_Intron	p.D102N	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		6	1123	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	102			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.304G>A	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828569	0.50845	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	T;T;T;D;D	0.92348	1.57;1.57;1.57;-3.02;-3.02	5.6	5.6	0.85130	SH2 motif (4);	0.181413	0.64402	D	0.000017	T	0.82226	0.4991	N	0.02865	-0.47	0.51233	D	0.99991	B;B;B;B;B	0.18461	0.028;0.004;0.004;0.0;0.004	B;B;B;B;B	0.19391	0.025;0.01;0.01;0.002;0.01	T	0.76926	-0.2778	10	0.25751	T	0.34	-43.0063	17.4647	0.87629	0.0:1.0:0.0:0.0	.	119;102;102;102;102	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	N	102;142;119;119;102	ENSP00000337548:D102N;ENSP00000394049:D142N;ENSP00000378759:D119N;ENSP00000428559:D119N;ENSP00000430596:D102N	ENSP00000337548:D102N	D	-	1	0	SLA	134129305	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	2.793000	0.96121	0.563000	0.77884	GAC		0.572	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			39	270	0	0	0	1	0	39	270					T	134060123	C	T	134060123	3	4	79	1	0	0	0	0	1	0	0	0	14413	913	32	2	542	2	SLA	8	134060123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34222	134060123	12303899	9701	20018											
TG	7038	broad.mit.edu	37	chr8	134144149	134144149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggagaagagcctgtcGctgaaaatcatgcagtactt	12	8	1	3	rs367550488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000542445.1_Silent_p.S1022S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2652					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.S2652S(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)		AGAGCCTGTCGCTGAAAATCA	0.507																																						ENST00000220616.4																			1	Substitution - coding silent(1)	p.S2652S(1)	pancreas(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						c.(7954-7956)tcG>tcA		thyroglobulin		G		0,4406		0,0,2203	119	119	119		7956	-10.6	0	8		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2652/2769	134144149	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144149G>A	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.7956G>A	8.37:g.134144149G>A						TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000542445.1_Silent_p.S1022S|TG_ENST00000377869.1_Silent_p.S2595S	p.S2652S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	46	7996	+	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)	2652					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7956G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182462	0.09495	0.0	2.33E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.69011	-0.5258	4	.	.	.	.	0.5461	0.00654	0.2289:0.2851:0.2121:0.2739	.	.	.	.	T	1108	.	.	A	+	1	0	TG	134213331	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-5.450000	0.00121	-7.265000	0.00001	-1.671000	0.00744	GCT		0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		76	358	0	0	0	1	0	76	358					A	134144149	G	A	134144149	2	1	79	1	0	0	0	0	0	0	0	1	15865	1074	38	1		1	TG	8	134144149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84026	134144149	12219873	9702	20019											
ST3GAL1	6482	broad.mit.edu	37	chr8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaacatcagcttcaaaccCtgccgtgggcgccttgttca	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	176					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)			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)			GCTTCAAACCCTGCCGTGGGC	0.577																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(526-528)Ggg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							140	131	134					8																	134477178		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.chr8:134477178C>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.526G>T	8.37:g.134477178C>A	ENSP00000318445:p.Gly176Trp					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W	p.G176W			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		6	1553	-	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)		176					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.526G>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956753	0.73902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.84	4.84	0.62591	.	0.049817	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90922	3.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.1328	12.7902	0.57528	0.0:0.8355:0.1645:0.0	.	176	Q11201	SIA4A_HUMAN	W	176;176;176;176;46;46	ENSP00000318445:G176W;ENSP00000414073:G176W;ENSP00000428540:G176W;ENSP00000430515:G176W;ENSP00000429638:G46W;ENSP00000427720:G46W	ENSP00000318445:G176W	G	-	1	0	ST3GAL1	134546360	1.000000	0.71417	0.738000	0.30950	0.864000	0.49448	5.833000	0.69349	2.235000	0.73313	0.511000	0.50034	GGG		0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		153	717	1	0	1.23367e-73	1	1.57067e-73	153	717					A	134477178	C	A	134477178	3	1	79	1	0	0	0	0	1	0	0	0	15266	681	24	3	512	3	ST3GAL1	8	134477178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333029	134477178	11886844	9703	20020											
ST3GAL1	6482	broad.mit.edu	37	chr8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagcgccggcagcccaccGacctcttctccagcataggg	11	18	2	0	rs199925387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					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)			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)			GCAGCCCACCGACCTCTTCTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0					ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(406-408)tCg>tTg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80	79	79					8																	134478233		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.chr8:134478233G>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.407C>T	8.37:g.134478233G>A	ENSP00000318445:p.Ser136Leu					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L	p.S136L			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		5	1434	-	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)		136					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.407C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.549021	0.13312	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.30714	2.16;2.16;2.16;2.16;1.52;1.52	4.7	1.27	0.21489	.	0.299822	0.36409	N	0.002613	T	0.12774	0.0310	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.34782	T	0.22	-17.8018	8.7121	0.34389	0.2966:0.0:0.7034:0.0	.	136	Q11201	SIA4A_HUMAN	L	136;136;136;136;6;6	ENSP00000318445:S136L;ENSP00000414073:S136L;ENSP00000428540:S136L;ENSP00000430515:S136L;ENSP00000429638:S6L;ENSP00000427720:S6L	ENSP00000318445:S136L	S	-	2	0	ST3GAL1	134547415	0.001000	0.12720	0.022000	0.16811	0.379000	0.30106	0.974000	0.29436	0.010000	0.14839	-0.254000	0.11334	TCG		0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		77	333	0	0	0	1	0	77	333					A	134478233	G	A	134478233	3	1	79	1	0	0	0	0	1	0	0	0	15266	1059	37	1	635	1	ST3GAL1	8	134478233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1055	134478233	11885789	9704	20021											
ZFAT	57623	broad.mit.edu	37	chr8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagcatgagcctctgCggaggaggtatcatttttca	13	8	3	1	rs201380546		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000377838.3	-	6	1990	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZFAT_ENST00000520727.1_Missense_Mutation_p.A594T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	606					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A606T(1)|p.A594T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGCCTCTGCGGAGGAGGTA	0.532																																						ENST00000520727.1																			2	Substitution - Missense(2)	p.A606T(1)|p.A594T(1)	lung(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1780-1782)Gca>Aca		zinc finger and AT hook domain containing							55	57	56					8																	135614146		1980	4178	6158	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614146C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1816G>A	8.37:g.135614146C>T	ENSP00000367069:p.Ala606Thr					ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A606T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T	p.A594T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2079	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		606					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1780G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.514163	0.00975	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10005	2.99;2.92;2.92;2.92;2.92;2.94	5.25	-6.7	0.01766	.	1.892650	0.02219	N	0.063857	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.04;0.01;0.003;0.001	B;B;B;B	0.12837	0.008;0.004;0.002;0.001	T	0.25813	-1.0121	10	0.44086	T	0.13	-0.0204	1.9495	0.03364	0.1549:0.2715:0.1635:0.4101	.	544;594;594;606	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	594;594;594;606;594;493;544;594	ENSP00000427879:A594T;ENSP00000427831:A594T;ENSP00000394501:A594T;ENSP00000367069:A606T;ENSP00000428483:A594T;ENSP00000429091:A544T	ENSP00000326997:A493T	A	-	1	0	ZFAT	135683328	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.674000	0.05233	-1.512000	0.01791	-1.332000	0.01269	GCA		0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		71	262	0	0	0	1	0	71	262					T	135614146	C	T	135614146	3	4	79	1	0	0	0	0	1	0	0	0	17685	768	27	1	1959	1	ZFAT	8	135614146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135913	135614146	10749876	9705	20022											
ZFAT	57623	broad.mit.edu	37	chr8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccccagagcttcttgCtggatgtccccaccaggttc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000377838.3	-	6	1698	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ZFAT_ENST00000520727.1_Missense_Mutation_p.Q496H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	508					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGCTTCTTGCTGGATGTCCC	0.602																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1486-1488)caG>caT		zinc finger and AT hook domain containing							22	24	23					8																	135614438		1891	4113	6004	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614438C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1524G>T	8.37:g.135614438C>A	ENSP00000367069:p.Gln508His					ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q508H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H	p.Q496H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1787	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		508					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1488G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678896	0.29783	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.85;2.78;2.78;2.77;2.78;2.82	6.04	3.28	0.37604	.	0.183522	0.39146	N	0.001442	T	0.08714	0.0216	L	0.32530	0.975	0.46011	D	0.99881	B;B;B;B	0.16166	0.011;0.011;0.016;0.004	B;B;B;B	0.19666	0.01;0.009;0.026;0.003	T	0.15435	-1.0437	10	0.41790	T	0.15	-19.2128	8.868	0.35298	0.0:0.726:0.1347:0.1394	.	446;496;496;508	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	496;496;496;508;496;446;496	ENSP00000427879:Q496H;ENSP00000427831:Q496H;ENSP00000394501:Q496H;ENSP00000367069:Q508H;ENSP00000428483:Q496H;ENSP00000429091:Q446H	ENSP00000367069:Q508H	Q	-	3	2	ZFAT	135683620	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.892000	0.36259	0.563000	0.77884	CAG		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		15	143	1	0	0.00244969	1	0.00247089	15	143					A	135614438	C	A	135614438	3	1	79	1	0	0	0	0	1	0	0	0	17685	796	28	3	2251	3	ZFAT	8	135614438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292	135614438	10749584	9706	20023											
ZFAT	57623	broad.mit.edu	37	chr8	135615146	135615146	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgttgcagtattcacaAgtgaagattttgagctgagt	10	6	1	4	rs577530195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000377838.3	-	6	990	c.816T>G	c.(814-816)acT>acG	p.T272T	ZFAT_ENST00000520727.1_Silent_p.T260T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	272					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTATTCACAAGTGAAGATTT	0.478																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(778-780)acT>acG		zinc finger and AT hook domain containing							97	97	97					8																	135615146		1983	4163	6146	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135615146A>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.816T>G	8.37:g.135615146A>C						ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000377838.3_Silent_p.T272T|ZFAT_ENST00000520214.1_Silent_p.T260T	p.T260T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1079	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		272					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.780T>G	CCDS47924.1																																																																																				0.478	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		83	324	0	0	0	1	0	83	324					C	135615146	A	C	135615146	2	2	79	1	0	0	0	0	0	0	0	1	17685	59	3	4		4	ZFAT	8	135615146	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	708	135615146	10748876	9707	20024											
COL22A1	169044	broad.mit.edu	37	chr8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A													gagtcctttaccggctctccINSagggggacccggctttccat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1255	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			ACCGGCTCTCCAGGGGGACCCG	0.436										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(3760-3765)ccgagafs		collagen, type XXII, alpha 1																																				SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139635983_139635984insA	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.3763dupT	8.37:g.139635984_139635984dupA	ENSP00000303153:p.Gly1255fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.R1235fs|COL22A1_ENST00000341807.4_5'UTR	p.R1255fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4208_4209	-	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)		1255			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Ins	INS	ENST00000303045.6	37	c.3762_3763insT	CCDS6376.1																																																																																				0.436	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		274	1284						274	1284	---	---	---	---	A	139635984	-	A	139635983	7	5	79	1	0	1	1	0	0	0	0	0	3690	603	21	0	1173	0	COL22A1	8	139635983	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4020837	139635983	6728039	9708	20025											
COL22A1	169044	broad.mit.edu	37	chr8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggcccagggagcccaGgagcaccaggatctcccctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139697494G>T	ENST00000303045.6	-	38	3370	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			AGGGAGCCCAGGAGCACCAGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(2923-2925)cCt>cAt		collagen, type XXII, alpha 1							44	45	45					8																	139697494		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139697494G>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.2924C>A	8.37:g.139697494G>T	ENSP00000303153:p.Pro975His	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	p.P975H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		38	3370	-	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)		975			Collagen-like 8.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2924C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892228	0.17613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97772	-4.53;-4.53	4.42	4.42	0.53409	.	0.000000	0.46758	U	0.000265	D	0.99026	0.9667	H	0.95917	3.74	0.20403	N	0.9999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95101	0.8230	10	0.62326	D	0.03	.	12.455	0.55700	0.0:0.0:1.0:0.0	.	975;975	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	975;975;688	ENSP00000303153:P975H;ENSP00000387655:P975H	ENSP00000303153:P975H	P	-	2	0	COL22A1	139766676	0.945000	0.32115	0.072000	0.20136	0.005000	0.04900	3.183000	0.50918	2.308000	0.77769	0.442000	0.29010	CCT		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	423	1	0	0.00829132	1	0.00834067	9	423					T	139697494	G	T	139697494	3	4	79	1	0	0	0	0	1	0	0	0	3690	1000	35	3	2068	3	COL22A1	8	139697494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61511	139697494	6666528	9709	20026											
COL22A1	169044	broad.mit.edu	37	chr8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagagagtttacttactcGgagaccttgcaaaccaggag	10	8	0	2	rs200627175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	695	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			TTACTTACTCGGAGACCTTGC	0.448										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0	0.0	5008	,	,		22233	0.0		0.001	False		,,,				2504	0.0					ENST00000303045.6																			0				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						c.(2083-2085)Cga>Tga		collagen, type XXII, alpha 1		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	113	113	113		2083	4.7	1	8		113	0,8600		0,0,4300	no	stop-gained	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		695/1627	139763703	1,13005	2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139763703G>A	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.2083C>T	8.37:g.139763703G>A	ENSP00000303153:p.Arg695*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		22	2529	-	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)		695			Collagen-like 4.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.2083C>T	CCDS6376.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	44	11.243823	0.99536	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.72	4.72	0.59763	.	0.168727	0.26457	N	0.024262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3916	0.60827	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;408	.	ENSP00000303153:R695X	R	-	1	2	COL22A1	139832885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.640000	0.89533	0.655000	0.94253	CGA		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		32	175	0	0	0	1	0	32	175					A	139763703	G	A	139763703	4	1	79	1	0	0	0	0	0	1	0	0	3690	1124	39	1	2973	1	COL22A1	8	139763703	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66209	139763703	6600319	9710	20027											
COL22A1	169044	broad.mit.edu	37	chr8	139825183	139825183	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgagagtctgctcaccGgacccgaggggatatcacaa	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	COL22A1_ENST00000435777.1_Splice_Site_p.P442L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	442					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P442R(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)			TCTGCTCACCGGACCCGAGGG	0.537										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.P442R(1)	upper_aerodigestive_tract(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						c.e8+1		collagen, type XXII, alpha 1							131	107	115					8																	139825183		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139825183G>A	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.1326+1C>T	8.37:g.139825183G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site_p.P442_splice	p.P442_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		8	1771	-	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)		442					B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.1326_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980324	0.53827	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.34	4.72	4.72	0.59763	.	0.000000	0.42548	U	0.000687	T	0.76772	0.4034	N	0.17474	0.49	0.58432	D	0.999998	P	0.42375	0.778	B	0.29785	0.107	T	0.77915	-0.2409	9	.	.	.	.	14.8862	0.70570	0.0:0.0:1.0:0.0	.	442	Q8NFW1	COMA1_HUMAN	L	442	ENSP00000303153:P442L;ENSP00000387655:P442L	.	P	-	2	0	COL22A1	139894365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.370000	0.79589	2.203000	0.70933	0.460000	0.39030	CCG		0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	7	278	0	0	0	1	0	7	278					A	139825183	G	A	139825183	5	1	79	1	0	0	0	0	0	0	1	0	3690	1130	39	1	3787	1	COL22A1	8	139825183	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61480	139825183	6538839	9711	20028											
COL22A1	169044	broad.mit.edu	37	chr8	139890402	139890402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgtggtgggccggtcGctgtagcgcacgacccccac	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	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)				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)			TGGGCCGGTCGCTGTAGCGCA	0.677										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(247-249)agC>agT		collagen, type XXII, alpha 1							15	18	17					8																	139890402		2200	4292	6492	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890402G>A	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.249C>T	8.37:g.139890402G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.S83S	p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	695	-	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)		83			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.249C>T	CCDS6376.1																																																																																				0.677	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		13	54	0	0	0	1	0	13	54					A	139890402	G	A	139890402	2	1	79	1	0	0	0	0	0	0	0	1	3690	1078	38	1		1	COL22A1	8	139890402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65219	139890402	6473620	9712	20029											
KCNK9	51305	broad.mit.edu	37	chr8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A													tggtggtgatgaccgtgatcGcaaagtagaaggagccggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	87					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GACCGTGATCGCAAAGTAGAA	0.701																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(259-261)gCg>gTg		potassium channel, subfamily K, member 9							33	34	34					8																	140714976		2202	4299	6501	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140714976G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.260C>T	8.37:g.140714976G>A	ENSP00000430676:p.Ala87Val					KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	p.A87V			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	323	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	87					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.260C>T	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164005	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28454	1.61;1.61;1.61	3.87	3.87	0.44632	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.48259	0.1490	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.54200	-0.8329	10	0.46703	T	0.11	.	15.1508	0.72696	0.0:0.0:1.0:0.0	.	87	Q9NPC2	KCNK9_HUMAN	V	87	ENSP00000429847:A87V;ENSP00000302166:A87V;ENSP00000430676:A87V	ENSP00000302166:A87V	A	-	2	0	KCNK9	140784158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.704000	0.91351	1.839000	0.53478	0.555000	0.69702	GCG		0.701	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		6	122	0	0	0	1	0	6	122					A	140714976	G	A	140714976	3	1	79	1	0	0	0	0	1	0	0	0	8102	1087	38	1	872	1	KCNK9	8	140714976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824574	140714976	5649046	9713	20030	124	2									
KCNK9	51305	broad.mit.edu	37	chr8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T													atgaccgtgatcgcaaagtaGaaggagccggcgaatttcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	84					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TCGCAAAGTAGAAGGAGCCGG	0.677																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(250-252)ttC>ttA		potassium channel, subfamily K, member 9							38	39	38					8																	140714984		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140714984G>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.252C>A	8.37:g.140714984G>T	ENSP00000430676:p.Phe84Leu					KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	p.F84L			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	315	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	84					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.252C>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909430	0.72868	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26067	1.76;1.76;1.76	3.87	2.99	0.34606	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28344	0.845	0.58432	D	0.999993	P	0.44195	0.828	P	0.50934	0.654	T	0.01884	-1.1254	10	0.42905	T	0.14	.	7.3744	0.26821	0.2046:0.0:0.7954:0.0	.	84	Q9NPC2	KCNK9_HUMAN	L	84	ENSP00000429847:F84L;ENSP00000302166:F84L;ENSP00000430676:F84L	ENSP00000302166:F84L	F	-	3	2	KCNK9	140784166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.417000	0.59822	0.716000	0.32124	0.555000	0.69702	TTC		0.677	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		19	118	1	0	5.03518e-11	1	5.3609e-11	19	118					T	140714984	G	T	140714984	3	4	79	1	0	0	0	0	1	0	0	0	8102	933	33	3	880	3	KCNK9	8	140714984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	140714984	5649038	9714	20031	124	2									
TRAPPC9	83696	broad.mit.edu	37	chr8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgggatccagcgacagaCtgtagccgggcagcgtttcc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000438773.2	-	8	1452	c.1319G>T	c.(1318-1320)aGt>aTt	p.S440I	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S538I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	440					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCGACAGACTGTAGCCGGG	0.597																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1612-1614)aGt>aTt		trafficking protein particle complex 9							81	81	81					8																	141381095		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381095C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1319G>T	8.37:g.141381095C>A	ENSP00000405060:p.Ser440Ile					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S440I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I	p.S538I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1627	-			440					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1613G>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150767|4.150767	0.78001|0.78001	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	.|0.077470	.|0.85682	.|D	.|0.000000	T|T	0.64148|0.64148	0.2572|0.2572	L|L	0.34521|0.34521	1.04|1.04	0.48087|0.48087	D|D	0.999587|0.999587	.|D;P;D	.|0.71674	.|0.998;0.887;0.996	.|D;P;P	.|0.65773	.|0.938;0.668;0.878	T|T	0.64947|0.64947	-0.6287|-0.6287	5|9	.|0.46703	.|T	.|0.11	.|.	14.0622|14.0622	0.64806|0.64806	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	.|440;431;538	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|I	283|538;431;440	.|.	.|ENSP00000373978:S431I	Q|S	-|-	3|2	2|0	TRAPPC9|TRAPPC9	141450277|141450277	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.731000|0.731000	0.41821|0.41821	7.433000|7.433000	0.80362|0.80362	1.310000|1.310000	0.45006|0.45006	0.455000|0.455000	0.32223|0.32223	CAG|AGT		0.597	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		94	430	1	0	8.2166e-39	1	9.9152e-39	94	430					A	141381095	C	A	141381095	3	1	79	1	0	0	0	0	1	0	0	0	16518	565	20	3	2191	3	TRAPPC9	8	141381095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666111	141381095	4982927	9715	20032											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461131	141461131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcccgaagacaaagagCcgggagtcatacagtgtgga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000438773.2	-	2	475	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000389328.4_Silent_p.R212R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACAAAGAGCCGGGAGTCAT	0.582																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(634-636)cgG>cgA		trafficking protein particle complex 9							69	64	66					8																	141461131		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461131C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.342G>A	8.37:g.141461131C>T						TRAPPC9_ENST00000438773.2_Silent_p.R114R|TRAPPC9_ENST00000389327.3_Silent_p.R114R	p.R212R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	650	-			114					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.636G>A	CCDS55278.1																																																																																				0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		67	276	0	0	0	1	0	67	276					T	141461131	C	T	141461131	2	4	79	1	0	0	0	0	0	0	0	1	16518	726	26	2		2	TRAPPC9	8	141461131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80036	141461131	4902891	9716	20033											
CHRAC1	54108	broad.mit.edu	37	chr8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctaggagctctttgTtcaatgcctagccacctatt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	53					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353																																						ENST00000220913.5																			0				ovary(2)	2						c.(157-159)gTt>gGt		chromatin accessibility complex 1							56	51	53					8																	141524478		2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141524478T>G	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.158T>G	8.37:g.141524478T>G	ENSP00000220913:p.Val53Gly					CHRAC1_ENST00000519533.1_Intron	p.V53G	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		2	360	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		53						Missense_Mutation	SNP	ENST00000220913.5	37	c.158T>G	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.236441|4.236441	0.79800|0.79800	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000519618|ENST00000220913;ENST00000518971	.|T;T	.|0.52057	.|0.78;0.68	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.82564|0.82564	-0.0394|-0.0394	5|10	.|0.87932	.|D	.|0	-13.1144|-13.1144	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53	.|Q9NRG0	.|CHRC1_HUMAN	V|G	19|53;40	.|ENSP00000220913:V53G;ENSP00000430484:V40G	.|ENSP00000220913:V53G	F|V	+|+	1|2	0|0	CHRAC1|CHRAC1	141593660|141593660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	6.923000|6.923000	0.75817|0.75817	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.353	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		37	183	0	0	0	1	0	37	183					G	141524478	T	G	141524478	3	3	79	1	0	0	0	0	1	0	0	0	3380	1725	60	4	164	4	CHRAC1	8	141524478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63347	141524478	4839544	9717	20034											
PTK2	5747	broad.mit.edu	37	chr8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagagacggcgtgtgtcCgcatgccttgcttttcgctg	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	385					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1153-1155)cGg>cAg		protein tyrosine kinase 2							249	227	235					8																	141799596		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799596C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1154G>A	8.37:g.141799596C>T	ENSP00000429911:p.Arg385Gln					PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q	p.R385Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1383	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	385					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1154G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435814	0.83885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.76578	-1.01;-0.98;-1.03;-1.01;-0.99;-0.94;-0.99;-0.95;-1.03;-1.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.50333	1.59	0.44309	D	0.997188	B;B;B;B;B;B;B;D	0.53619	0.181;0.373;0.11;0.336;0.222;0.074;0.055;0.961	B;B;B;B;B;B;B;P	0.48524	0.011;0.048;0.014;0.019;0.013;0.009;0.006;0.58	T	0.75260	-0.3380	10	0.32370	T	0.25	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	385;46;292;385;407;385;296;46	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	Q	385;385;429;385;295;385;292;46;50;385;46;429;49;203	ENSP00000429911:R385Q;ENSP00000438009:R385Q;ENSP00000429082:R429Q;ENSP00000429474:R385Q;ENSP00000378644:R385Q;ENSP00000428492:R50Q;ENSP00000341189:R385Q;ENSP00000445742:R46Q;ENSP00000429129:R429Q;ENSP00000430603:R49Q	ENSP00000341189:R385Q	R	-	2	0	PTK2	141868778	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	4.196000	0.58407	2.941000	0.99782	0.655000	0.94253	CGG		0.512	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		195	901	0	0	0	1	0	195	901					T	141799596	C	T	141799596	3	4	79	1	0	0	0	0	1	0	0	0	12810	652	23	1	2080	1	PTK2	8	141799596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275118	141799596	4564426	9718	20035											
PTK2	5747	broad.mit.edu	37	chr8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcatgccttgcttttcgCtgttggccaacctgtgacag	10	13	0	1	rs538944133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1135-1137)aGc>aAc		protein tyrosine kinase 2							222	199	207					8																	141799614		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799614C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1136G>A	8.37:g.141799614C>T	ENSP00000429911:p.Ser379Asn					PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N	p.S379N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1365	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	379					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1136G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303527	0.23736	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.94;-0.95;-0.96;-0.95;-0.9;-0.95;-0.91;-0.95;-0.89	5.87	3.69	0.42338	.	0.161248	0.64402	N	0.000002	T	0.49389	0.1554	N	0.11000	0.08	0.28552	N	0.911562	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.31586	-0.9938	10	0.16420	T	0.52	.	6.8538	0.24030	0.0:0.7674:0.0:0.2326	.	379;40;286;379;401;379;290;40	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	N	379;379;423;379;289;379;286;40;44;379;40;423;43;197	ENSP00000429911:S379N;ENSP00000438009:S379N;ENSP00000429082:S423N;ENSP00000429474:S379N;ENSP00000378644:S379N;ENSP00000428492:S44N;ENSP00000341189:S379N;ENSP00000445742:S40N;ENSP00000429129:S423N;ENSP00000430603:S43N	ENSP00000341189:S379N	S	-	2	0	PTK2	141868796	0.889000	0.30405	0.995000	0.50966	0.969000	0.65631	1.303000	0.33470	1.599000	0.50093	0.655000	0.94253	AGC		0.552	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		172	785	0	0	0	1	0	172	785					T	141799614	C	T	141799614	3	4	79	1	0	0	0	0	1	0	0	0	12810	797	28	2	2098	2	PTK2	8	141799614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	141799614	4564408	9719	20036											
PTK2	5747	broad.mit.edu	37	chr8	141856698	141856698	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatagttatcatcttacCgtatttctagacaacccaac	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.e6+1		protein tyrosine kinase 2							106	99	102					8																	141856698		2203	4300	6503	SO:0001630	splice_region_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856698C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.530+1G>A	8.37:g.141856698C>T						PTK2_ENST00000535192.1_Splice_Site_p.R177_splice|PTK2_ENST00000519419.1_Splice_Site_p.R221_splice|PTK2_ENST00000521059.1_Splice_Site_p.R177_splice|PTK2_ENST00000395218.2_Splice_Site_p.R177_splice|PTK2_ENST00000517887.1_Splice_Site_p.R221_splice|PTK2_ENST00000340930.3_Splice_Site_p.R177_splice	p.R177_splice	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		6	759	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	177			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Splice_Site	SNP	ENST00000522684.1	37	c.530_splice	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.82193	2.58	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	0.91635	0.999;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA		0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	39	236	0	0	0	1	0	39	236					T	141856698	C	T	141856698	5	4	79	1	0	0	0	0	0	0	1	0	12810	666	23	1	2736	1	PTK2	8	141856698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57084	141856698	4507324	9720	20037											
DENND3	22898	broad.mit.edu	37	chr8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccccccagagcgccagAgcctgaggatgtcgccgtcc	15	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000262585.2	+	2	358	c.80A>C	c.(79-81)gAg>gCg	p.E27A	DENND3_ENST00000519811.1_Missense_Mutation_p.E107A|DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	27	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCCAGAGCCTGAGGAT	0.667																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(319-321)gAg>gCg		DENN/MADD domain containing 3							15	20	18					8																	142146825		2200	4297	6497	SO:0001583	missense	22898							g.chr8:142146825A>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.80A>C	8.37:g.142146825A>C	ENSP00000262585:p.Glu27Ala					DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000262585.2_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	p.E107A			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	390	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		27			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.320A>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.687|9.687	1.150839|1.150839	0.21371|0.21371	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T|.	0.40476|.	1.03;2.96;2.52;1.03;1.03;1.03|.	5.36|5.36	4.19|4.19	0.49359|0.49359	uDENN (1);|.	0.608859|.	0.17752|.	N|.	0.163199|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.38280|.	0.002;0.003;0.625;0.258|.	B;B;B;B|.	0.34931|.	0.002;0.006;0.192;0.098|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.21014|.	T|.	0.42|.	-0.9371|-0.9371	7.0187|7.0187	0.24902|0.24902	0.7747:0.1484:0.0768:0.0|0.7747:0.1484:0.0768:0.0	.|.	107;27;107;107|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	A|S	40;107;27;27;107;107;107|83	ENSP00000430695:E107A;ENSP00000262585:E27A;ENSP00000410594:E27A;ENSP00000428714:E107A;ENSP00000429780:E107A;ENSP00000430786:E107A|.	ENSP00000262585:E27A|.	E|R	+|+	2|3	0|2	DENND3|DENND3	142216007|142216007	0.764000|0.764000	0.28473|0.28473	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	1.801000|1.801000	0.38843|0.38843	0.857000|0.857000	0.35407|0.35407	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.667	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		20	77	0	0	0	1	0	20	77					C	142146825	A	C	142146825	3	2	79	1	0	0	0	0	1	0	0	0	4448	304	11	4	82	4	DENND3	8	142146825	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290127	142146825	4217197	9721	20038											
DENND3	22898	broad.mit.edu	37	chr8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctgaggatgtcgccGtcccgggcggcgtggacctc	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000262585.2	+	2	375	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	DENND3_ENST00000519811.1_Missense_Mutation_p.V113I|DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	33	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGTCGCCGTCCCGGGCGG	0.687																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(337-339)Gtc>Atc		DENN/MADD domain containing 3							14	18	17					8																	142146842		2196	4290	6486	SO:0001583	missense	22898							g.chr8:142146842G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.97G>A	8.37:g.142146842G>A	ENSP00000262585:p.Val33Ile					DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000262585.2_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	p.V113I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	407	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		33			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.337G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.338|0.338	-0.952181|-0.952181	0.02285|0.02285	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61|5.61	-2.87|-2.87	0.05700|0.05700	.|uDENN (1);	.|0.737094	.|0.13752	.|N	.|0.365220	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B;B;B	.|0.26258	.|0.145;0.087;0.021;0.06	.|B;B;B;B	.|0.25614	.|0.062;0.034;0.013;0.009	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.11182	.|T	.|0.66	-2.4659|-2.4659	14.6426|14.6426	0.68737|0.68737	0.4152:0.0:0.5848:0.0|0.4152:0.0:0.5848:0.0	.|.	.|113;33;113;113	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	H|I	89|46;113;33;33;113;113;113	.|ENSP00000430625:V46I;ENSP00000430695:V113I;ENSP00000262585:V33I;ENSP00000410594:V33I;ENSP00000428714:V113I;ENSP00000429780:V113I;ENSP00000430786:V113I	.|ENSP00000262585:V33I	R|V	+|+	2|1	0|0	DENND3|DENND3	142216024|142216024	0.014000|0.014000	0.17966|0.17966	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	0.016000|0.016000	0.13377|0.13377	-0.790000|-0.790000	0.04492|0.04492	-0.806000|-0.806000	0.03193|0.03193	CGT|GTC		0.687	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		21	59	0	0	0	1	0	21	59					A	142146842	G	A	142146842	3	1	79	1	0	0	0	0	1	0	0	0	4448	1145	40	1	99	1	DENND3	8	142146842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	142146842	4217180	9722	20039											
DENND3	22898	broad.mit.edu	37	chr8	142176355	142176355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctcccggaagtcctcGcacctgcatgtcacccacag	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000262585.2	+	12	1658	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	DENND3_ENST00000519811.1_Silent_p.S540S|DENND3_ENST00000424248.1_Silent_p.S408S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGTCCTCGCACCTGCATG	0.552																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1618-1620)tcG>tcA		DENN/MADD domain containing 3							125	134	131					8																	142176355		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142176355G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1380G>A	8.37:g.142176355G>A						DENND3_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000262585.2_Silent_p.S460S	p.S540S			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1690	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		460					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.1620G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	4.540	0.100272	0.08731	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.12	-5.67	0.02444	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-11.8227	2.3262	0.04223	0.4485:0.2889:0.1156:0.147	.	.	.	.	T	465	.	.	A	+	1	0	DENND3	142245537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-1.175000	0.02751	-1.020000	0.02445	GCA		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		152	783	0	0	0	1	0	152	783					A	142176355	G	A	142176355	2	1	79	1	0	0	0	0	0	0	0	1	4448	1074	38	1		1	DENND3	8	142176355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29513	142176355	4187667	9723	20040											
DENND3	22898	broad.mit.edu	37	chr8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcctggacaagccgcacGaggcctcgaagctggacgac	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000262585.2	+	13	2166	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	DENND3_ENST00000519811.1_Missense_Mutation_p.E710K|DENND3_ENST00000424248.1_Missense_Mutation_p.E578K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	630					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCCGCACGAGGCCTCGAA	0.612																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2128-2130)Gag>Aag		DENN/MADD domain containing 3							68	68	68					8																	142178477		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142178477G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1888G>A	8.37:g.142178477G>A	ENSP00000262585:p.Glu630Lys					DENND3_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000262585.2_Missense_Mutation_p.E630K	p.E710K			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2198	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		630					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2128G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804188|2.804188	0.50315|0.50315	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15372|.	2.87;2.43;2.86|.	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.198521|.	0.52532|.	D|.	0.000074|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.62723|0.62723	1.935|1.935	0.50467|0.50467	D|D	0.999878|0.999878	D;D;D|.	0.58620|.	0.971;0.983;0.971|.	B;P;B|.	0.50082|.	0.426;0.63;0.426|.	T|T	0.70809|0.70809	-0.4771|-0.4771	10|5	0.48119|.	T|.	0.1|.	-14.1069|-14.1069	16.2841|16.2841	0.82710|0.82710	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	710;578;630|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	K|Q	630;578;710|634	ENSP00000262585:E630K;ENSP00000410594:E578K;ENSP00000428714:E710K|.	ENSP00000262585:E630K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142247659|142247659	1.000000|1.000000	0.71417|0.71417	0.099000|0.099000	0.21106|0.21106	0.030000|0.030000	0.12068|0.12068	6.746000|6.746000	0.74866|0.74866	1.312000|1.312000	0.45043|0.45043	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.612	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		92	391	0	0	0	1	0	92	391					A	142178477	G	A	142178477	3	1	79	1	0	0	0	0	1	0	0	0	4448	1059	37	1	1934	1	DENND3	8	142178477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2122	142178477	4185545	9724	20041											
SLC45A4	57210	broad.mit.edu	37	chr8	142227289	142227289	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcgagttcgagggggcCtgttccggaaatgagacggg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000024061.3	-	5	1784		c.e5-1		SLC45A4_ENST00000519067.1_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e5-1		solute carrier family 45, member 4							39	41	40					8																	142227289		2203	4300	6503	SO:0001630	splice_region_variant	57210				transport	integral to membrane		g.chr8:142227289C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1477-1G>A	8.37:g.142227289C>T						SLC45A4_ENST00000024061.3_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site				Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		5	1780	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)							Q6ZRI2|Q9ULU3	Splice_Site	SNP	ENST00000024061.3	37		CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564260	0.45694	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7099	0.91652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC45A4	142296471	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	7.494000	0.81503	2.420000	0.82092	0.491000	0.48974	.		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	Intron	62	248	0	0	0	1	0	62	248					T	142227289	C	T	142227289	5	4	79	1	0	0	0	0	0	0	1	0	14693	695	24	2	936	2	SLC45A4	8	142227289	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48812	142227289	4136733	9725	20042											
SLC45A4	57210	broad.mit.edu	37	chr8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgccgctgccgcttcTgcatgtcgtacaggtcgctc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000024061.3	-	4	1539	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000519067.1_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1231-1233)cAg>cCg		solute carrier family 45, member 4							42	39	40					8																	142228354		2203	4296	6499	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228354T>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1232A>C	8.37:g.142228354T>G	ENSP00000024061:p.Gln411Pro					SLC45A4_ENST00000024061.3_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	p.Q411P			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1535	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		462					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1232A>C	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173901	0.57692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.37	5.37	0.77165	.	0.060918	0.64402	D	0.000003	D	0.89598	0.6761	L	0.49350	1.555	0.49798	D	0.999829	B;B;B	0.20368	0.044;0.015;0.034	B;B;B	0.18871	0.01;0.023;0.023	D	0.86337	0.1702	10	0.41790	T	0.15	-42.0846	15.378	0.74630	0.0:0.0:0.0:1.0	.	462;411;411	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	411;462;404;411	ENSP00000429059:Q411P;ENSP00000428137:Q462P;ENSP00000400799:Q404P;ENSP00000024061:Q411P	ENSP00000024061:Q411P	Q	-	2	0	SLC45A4	142297536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.538000	0.67193	2.051000	0.60960	0.459000	0.35465	CAG		0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		51	247	0	0	0	1	0	51	247					G	142228354	T	G	142228354	3	3	79	1	0	0	0	0	1	0	0	0	14693	1580	55	4	1184	4	SLC45A4	8	142228354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1065	142228354	4135668	9726	20043											
SLC45A4	57210	broad.mit.edu	37	chr8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacaggtcgctcatgctgCgcgacggcttgatcagcacc	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000024061.3	-	4	1512	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000519067.1_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1204-1206)cGc>cAc		solute carrier family 45, member 4							46	44	45					8																	142228381		2203	4299	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228381C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1205G>A	8.37:g.142228381C>T	ENSP00000024061:p.Arg402His					SLC45A4_ENST00000024061.3_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	p.R402H			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1508	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		453					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1205G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103015	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.976	D	0.94106	0.7366	10	0.33940	T	0.23	-47.8602	19.116	0.93340	0.0:1.0:0.0:0.0	.	453;402;402	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	402;453;395;402	ENSP00000429059:R402H;ENSP00000428137:R453H;ENSP00000400799:R395H;ENSP00000024061:R402H	ENSP00000024061:R402H	R	-	2	0	SLC45A4	142297563	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.317000	0.59184	2.535000	0.85469	0.561000	0.74099	CGC		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		13	319	0	0	0	1	0	13	319					T	142228381	C	T	142228381	3	4	79	1	0	0	0	0	1	0	0	0	14693	768	27	1	1211	1	SLC45A4	8	142228381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	142228381	4135641	9727	20044											
SLC45A4	57210	broad.mit.edu	37	chr8	142228404	142228404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggcttgatcagcaccacGgcgttggcgcgccggtagcg	16	13	1	1	rs574825748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228404G>A	ENST00000024061.3	-	4	1489	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	SLC45A4_ENST00000519067.1_Silent_p.A394A|SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000433583.2_Silent_p.A387A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGCACCACGGCGTTGGCGC	0.692													g|||	2	0.000399361	0.0	0.0	5008	,	,		15237	0.0		0.0	False		,,,				2504	0.002					ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1180-1182)gcC>gcT		solute carrier family 45, member 4							41	43	42					8																	142228404		2203	4297	6500	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228404G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1182C>T	8.37:g.142228404G>A						SLC45A4_ENST00000024061.3_Silent_p.A394A|SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000433583.2_Silent_p.A387A	p.A394A			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1485	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		445					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1182C>T	CCDS34948.1																																																																																				0.692	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		10	344	0	0	0	1	0	10	344					A	142228404	G	A	142228404	2	1	79	1	0	0	0	0	0	0	0	1	14693	1103	39	1		1	SLC45A4	8	142228404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	142228404	4135618	9728	20045											
SLC45A4	57210	broad.mit.edu	37	chr8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtggcggggtaggaggCgtcgtggaagatggagggct	25	4	0	1	rs371771709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000024061.3	-	4	1166	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(859-861)Gcc>Acc		solute carrier family 45, member 4		C	THR/ALA	0,4406		0,0,2203	45	48	47		859	1.3	1	8		47	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC45A4	NM_001080431.1	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	287/799	142228727	1,13003	2203	4299	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228727C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.859G>A	8.37:g.142228727C>T	ENSP00000024061:p.Ala287Thr					SLC45A4_ENST00000024061.3_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	p.A287T			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1162	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		338					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.859G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031900	0.35893	0.0	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15139	2.48;2.47;2.47;2.45	5.75	1.28	0.21552	.	0.799963	0.11527	N	0.555059	T	0.10852	0.0265	L	0.47716	1.5	0.27514	N	0.951602	B;B;B	0.29037	0.024;0.231;0.01	B;B;B	0.14023	0.003;0.01;0.004	T	0.29822	-0.9999	10	0.17369	T	0.5	-17.9139	3.3128	0.07022	0.2097:0.5307:0.0963:0.1634	.	338;287;287	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	287;338;280;287	ENSP00000429059:A287T;ENSP00000428137:A338T;ENSP00000400799:A280T;ENSP00000024061:A287T	ENSP00000024061:A287T	A	-	1	0	SLC45A4	142297909	0.012000	0.17670	0.955000	0.39395	0.818000	0.46254	-0.201000	0.09464	0.663000	0.31027	0.555000	0.69702	GCC		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		73	462	0	0	0	1	0	73	462					T	142228727	C	T	142228727	3	4	79	1	0	0	0	0	1	0	0	0	14693	768	27	1	1557	1	SLC45A4	8	142228727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	142228727	4135295	9729	20046											
FLJ43860	389690	broad.mit.edu	37	chr8	142488817	142488817	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccacctggccgtatgCcaggaggatggtgctgctgg	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142488817C>T	ENST00000430863.1	-	0	1224					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGGCCGTATGCCAGGAGGATG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							34	39	37					8																	142488817		2004	4175	6179			389690							g.chr8:142488817C>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.142488817C>T								NM_207414.2	NP_997297.2					0	1224	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		11	68	0	0	0	1	0	11	68					T	142488817	C	T	142488817	1	4	79	0	1	0	0	0	0	0	0	0	5955	739	26	2		2	FLJ43860	8	142488817	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260090	142488817	3875205	9730	20047											
BAI1	575	broad.mit.edu	37	chr8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgggccacctccggaaccGcctcatccgcaagcgcttcc	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3139-3141)cGc>cAc		brain-specific angiogenesis inhibitor 1							30	40	36					8																	143603441		2200	4298	6498	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603441G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3140G>A	8.37:g.143603441G>A	ENSP00000430945:p.Arg1047His					BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H	p.R1047H			O14514	BAI1_HUMAN			21	4034	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1047						Missense_Mutation	SNP	ENST00000517894.1	37	c.3140G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.474454	0.84640	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.162599	0.41938	U	0.000782	T	0.52354	0.1729	L	0.46567	1.45	0.46131	D	0.99888	P	0.48016	0.904	P	0.51974	0.686	T	0.53823	-0.8384	10	0.42905	T	0.14	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1047	E9PBK0	.	H	1047	ENSP00000430945:R1047H;ENSP00000313046:R1047H	ENSP00000313046:R1047H	R	+	2	0	BAI1	143600443	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.699000	0.84547	1.641000	0.50575	0.305000	0.20034	CGC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		62	168	0	0	0	1	0	62	168					A	143603441	G	A	143603441	3	1	79	1	0	0	0	0	1	0	0	0	1299	1087	38	1	3218	1	BAI1	8	143603441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1114624	143603441	2760581	9731	20048											
BAI1	575	broad.mit.edu	37	chr8	143607953	143607953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagctcgtgtccaaagaCggcatcacggacaagaagct	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1121					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3361-3363)gaC>gaT		brain-specific angiogenesis inhibitor 1							36	42	40					8																	143607953		1981	4154	6135	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143607953C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3363C>T	8.37:g.143607953C>T						BAI1_ENST00000323289.5_Silent_p.D1121D	p.D1121D			O14514	BAI1_HUMAN			24	4257	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1121						Silent	SNP	ENST00000517894.1	37	c.3363C>T																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		17	96	0	0	0	1	0	17	96					T	143607953	C	T	143607953	2	4	79	1	0	0	0	0	0	0	0	1	1299	535	19	1		1	BAI1	8	143607953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4512	143607953	2756069	9732	20049											
ARC	23237	broad.mit.edu	37	chr8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccgcgtccacgtagagcgtCtggtacaggtcccgcttgcg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(928-930)caG>caT		activity-regulated cytoskeleton-associated protein							57	55	56					8																	143694703		2203	4300	6503	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694703C>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.930G>T	8.37:g.143694703C>A	ENSP00000349022:p.Gln310His						p.Q310H	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2130	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	310					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.930G>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098156	0.37048	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.75	4.75	0.60458	.	0.112617	0.38897	U	0.001539	T	0.18676	0.0448	N	0.12182	0.205	0.39006	D	0.959457	B	0.23650	0.089	B	0.26310	0.068	T	0.10268	-1.0637	10	0.29301	T	0.29	.	12.6204	0.56600	0.0:0.8332:0.1668:0.0	.	310	Q7LC44	ARC_HUMAN	H	310	ENSP00000349022:Q310H	ENSP00000349022:Q310H	Q	-	3	2	ARC	143691705	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.762000	0.38451	2.189000	0.69895	0.563000	0.77884	CAG		0.667	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			69	258	1	0	2.60599e-31	1	3.06669e-31	69	258					A	143694703	C	A	143694703	3	1	79	1	0	0	0	0	1	0	0	0	841	912	32	3	264	3	ARC	8	143694703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86750	143694703	2669319	9733	20050											
JRK	8629	broad.mit.edu	37	chr8	143747217	143747217	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggacgcggtccaggtgCtccagcttgggcgtgtgcag	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	ENST00000507178.2	-	0	593							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					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)	Acute lymphoblastic leukemia(644;2.31e-05)				ggtccaggtgctccagcttgg	0.662																																						ENST00000507178.2																			0													jerky homolog (mouse)							28	35	33					8																	143747217		2128	4234	6362			8629							g.chr8:143747217C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143747217C>A														0	593	-	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)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	SNP	ENST00000507178.2	37																																																																																						0.662	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		7	93	1	0	1.12685e-05	1	1.15515e-05	7	93					A	143747217	C	A	143747217	1	1	79	0	1	0	0	0	0	0	0	0	7994	796	28	3		3	JRK	8	143747217	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52514	143747217	2616805	9734	20051											
LY6K	54742	broad.mit.edu	37	chr8	143781978	143781978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctgctggtcgtggcCctaccgcgggtgtggacaga	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000292430.6	+	1	450	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_ENST00000522591.1_Silent_p.A11A|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000518841.1_Silent_p.A11A|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	11						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)					TGGTCGTGGCCCTACCGCGGG	0.701																																						ENST00000522591.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(31-33)gcC>gcT		lymphocyte antigen 6 complex, locus K							15	17	16					8																	143781978		2191	4290	6481	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143781978C>T	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.33C>T	8.37:g.143781978C>T						LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000518841.1_Silent_p.A11A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000292430.6_Silent_p.A11A	p.A11A			Q17RY6	LY6K_HUMAN			1	89	+	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)		11					G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.33C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534679	0.13188	.	.	ENSG00000160886	ENST00000522591	.	.	.	1.81	0.905	0.19307	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	4.1569	0.10265	0.0:0.7807:0.0:0.2193	.	.	.	.	L	30	.	.	P	+	2	0	LY6K	143778980	0.009000	0.17119	0.005000	0.12908	0.045000	0.14185	0.541000	0.23207	0.321000	0.23259	0.305000	0.20034	CCC		0.701	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		11	50	0	0	0	1	0	11	50					T	143781978	C	T	143781978	2	4	79	1	0	0	0	0	0	0	0	1	9137	610	22	2		2	LY6K	8	143781978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34761	143781978	2582044	9735	20052											
CYP11B1	1584	broad.mit.edu	37	chr8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggaacaaggcggggttgcGacccagagagtagaggaaca	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCGGGGTTGCGACCCAGAGAG	0.627									Familial Hyperaldosteronism type I																													ENST00000292427.4																			1	Substitution - Missense(1)	p.R412C(1)	skin(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1234-1236)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						94	90	91					8																	143956537		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956537G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1234C>T	8.37:g.143956537G>A	ENSP00000292427:p.Arg412Cys					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C	p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1266	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		412					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1234C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126496	0.37533	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.74632	1.04;-0.86;-0.86	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000281	D	0.88672	0.6500	M	0.92122	3.275	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.963	D	0.91324	0.5084	10	0.66056	D	0.02	.	14.4165	0.67153	0.0:0.0:1.0:0.0	.	483;412;412	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	C	90;412;483	ENSP00000430144:R90C;ENSP00000292427:R412C;ENSP00000366903:R483C	ENSP00000292427:R412C	R	-	1	0	CYP11B1	143953539	1.000000	0.71417	0.440000	0.26846	0.064000	0.16182	3.671000	0.54576	2.059000	0.61396	0.561000	0.74099	CGC		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			91	399	0	0	0	1	0	91	399					A	143956537	G	A	143956537	3	1	79	1	0	0	0	0	1	0	0	0	4156	1058	37	1	285	1	CYP11B1	8	143956537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174559	143956537	2407485	9736	20053											
LY6E	4061	broad.mit.edu	37	chr8	144102804	144102804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccgaccatctgctcCgaccaggacaactactgcgt	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000520466.1	+	4	529	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|RP11-273G15.2_ENST00000502167.2_lincRNA			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	42	UPAR/Ly6.				adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597																																						ENST00000517503.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(409-411)Cga>Tga		lymphocyte antigen 6 complex, locus E							139	118	125					8																	144102804		2203	4300	6503	SO:0001819	synonymous_variant	4061				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane		g.chr8:144102804C>T	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"retinoic acid induced gene E"	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.126C>T	8.37:g.144102804C>T						LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000520466.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S	p.R137*			Q16553	LY6E_HUMAN			3	444	+	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		0					B2R4X5|D3DWJ2|Q0VDE5	Nonsense_Mutation	SNP	ENST00000520466.1	37	c.409C>T	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	c	8.332	0.826660	0.16749	.	.	ENSG00000160932	ENST00000522528;ENST00000521182	.	.	.	3.49	-6.98	0.01611	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.6254	0.8457	0.01161	0.2107:0.1548:0.3134:0.3211	.	.	.	.	X	31	.	ENSP00000430770:R31X	R	+	1	2	LY6E	144174179	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.481000	0.00456	-2.749000	0.00375	-0.793000	0.03317	CGA		0.597	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		19	341	0	0	0	1	0	19	341					T	144102804	C	T	144102804	2	4	79	1	0	0	0	0	0	0	0	1	9130	639	23	1		1	LY6E	8	144102804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146267	144102804	2261218	9737	20054											
C8orf31	286122	broad.mit.edu	37	chr8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaccaccgcattgcagaGgtctcccttgcagcaagaga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622																																						ENST00000395172.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(142-144)aGg>aTg		chromosome 8 open reading frame 31							39	42	41					8																	144124636		2203	4300	6503	SO:0001583	missense	286122							g.chr8:144124636G>T		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.143G>T	8.37:g.144124636G>T	ENSP00000378601:p.Arg48Met					C8orf31_ENST00000517653.1_3'UTR	p.R48M	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	495	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		48					Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	c.143G>T	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	9.886	1.202848	0.22121	.	.	ENSG00000177335	ENST00000395172	T	0.56776	0.44	2.38	-0.493	0.12038	.	.	.	.	.	T	0.45716	0.1356	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.34825	-0.9813	9	0.87932	D	0	.	5.1229	0.14869	0.457:0.0:0.543:0.0	.	48	Q8N9H6	CH031_HUMAN	M	48	ENSP00000378601:R48M	ENSP00000378601:R48M	R	+	2	0	C8orf31	144196011	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.977000	0.01495	-0.126000	0.11682	0.435000	0.28638	AGG		0.622	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		9	171	1	0	1.12685e-05	1	1.15515e-05	9	171					T	144124636	G	T	144124636	3	4	79	1	0	0	0	0	1	0	0	0	2427	1000	35	3	149	3	C8orf31	8	144124636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21832	144124636	2239386	9738	20055											
LY6H	4062	broad.mit.edu	37	chr8	144240263	144240263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggcacacaccgtgtcGgacggctggcactgctttgg	13	13	0	0	rs372749060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000430474.2	-	3	309	c.144C>T	c.(142-144)tcC>tcT	p.S48S	LY6H_ENST00000414417.2_Silent_p.S69S|LY6H_ENST00000342752.4_Silent_p.S69S	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	48	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612																																						ENST00000414417.2																			0				endometrium(1)|lung(1)|stomach(2)	4						c.(205-207)tcC>tcT		lymphocyte antigen 6 complex, locus H		G	,,	0,4406		0,0,2203	151	118	129		207,207,144	-7.1	0	8		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	69/162,69/162,48/141	144240263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144240263G>A	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.144C>T	8.37:g.144240263G>A						LY6H_ENST00000342752.4_Silent_p.S69S|LY6H_ENST00000430474.2_Silent_p.S48S	p.S69S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN			4	440	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		48			UPAR/Ly6.		B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	c.207C>T	CCDS6396.1																																																																																				0.612	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			66	384	0	0	0	1	0	66	384					A	144240263	G	A	144240263	2	1	79	1	0	0	0	0	0	0	0	1	9136	1103	39	1		1	LY6H	8	144240263	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115627	144240263	2123759	9739	20056											
ZFP41	286128	broad.mit.edu	37	chr8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggggagtgcgggaaagCctttaactgcggctccaatc	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	151					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCGGGAAAGCCTTTAACTGC	0.587																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(451-453)gCc>gTc		ZFP41 zinc finger protein							110	112	111					8																	144332465		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332465C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.452C>T	8.37:g.144332465C>T	ENSP00000327427:p.Ala151Val					ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V|ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V	p.A151V	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	821	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		151					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.452C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122670	0.56613	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36340	1.26;1.26;1.26	3.15	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	1	P	0.38551	0.636	B	0.35770	0.21	T	0.10222	-1.0639	9	0.49607	T	0.09	-9.3379	4.4941	0.11828	0.0:0.6351:0.232:0.1329	.	151	Q8N8Y5	ZFP41_HUMAN	V	151	ENSP00000430465:A151V;ENSP00000327427:A151V;ENSP00000428966:A151V	ENSP00000327427:A151V	A	+	2	0	ZFP41	144403840	0.011000	0.17503	0.241000	0.24154	0.960000	0.62799	0.660000	0.25009	0.647000	0.30713	0.467000	0.42956	GCC		0.587	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		130	710	0	0	0	1	0	130	710					T	144332465	C	T	144332465	3	4	79	1	0	0	0	0	1	0	0	0	17702	739	26	2	454	2	ZFP41	8	144332465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92202	144332465	2031557	9740	20057											
ZNF696	79943	broad.mit.edu	37	chr8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgccgcatccacaccggggaGaagccccaccagtgcggcca	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	318					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACCGGGGAGAAGCCCCACC	0.736																																						ENST00000330143.3																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(952-954)gaG>gaT		zinc finger protein 696							6	8	7					8																	144378799		1992	3926	5918	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378799G>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.954G>T	8.37:g.144378799G>T	ENSP00000328515:p.Glu318Asp						p.E318D	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1363	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		318					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.954G>T	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811648	0.70797	.	.	ENSG00000185730	ENST00000330143	T	0.26810	1.71	2.97	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.46947	1.48	0.80722	D	1	P	0.35807	0.522	B	0.40199	0.322	T	0.03662	-1.1015	8	.	.	.	.	7.6192	0.28175	0.141:0.0:0.859:0.0	.	318	Q9H7X3	ZN696_HUMAN	D	318	ENSP00000328515:E318D	.	E	+	3	2	ZNF696	144450174	0.998000	0.40836	0.990000	0.47175	0.638000	0.38207	3.013000	0.49582	1.661000	0.50771	0.551000	0.68910	GAG		0.736	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		16	71	1	0	2.32078e-09	1	2.442e-09	16	71					T	144378799	G	T	144378799	3	4	79	1	0	0	0	0	1	0	0	0	18152	933	33	3	960	3	ZNF696	8	144378799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46334	144378799	1985223	9741	20058											
ZC3H3	23144	broad.mit.edu	37	chr8	144589969	144589969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagacagggggaagggCggggcgctgagaggcgaggc	24	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	554					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1660-1662)ccG>ccA		zinc finger CCCH-type containing 3							49	57	55					8																	144589969		2202	4300	6502	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144589969C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1662G>A	8.37:g.144589969C>T							p.P554P	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		4	1693	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		554					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.1662G>A	CCDS6402.1																																																																																				0.672	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		55	391	0	0	0	1	0	55	391					T	144589969	C	T	144589969	2	4	79	1	0	0	0	0	0	0	0	1	17622	755	27	1		1	ZC3H3	8	144589969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211170	144589969	1774053	9742	20059											
GSDMD	79792	broad.mit.edu	37	chr8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagaggaccttccagCcacccgcgacaggtgagagc	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S|GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	242					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(724-726)Cca>Tca		gasdermin D							42	42	42					8																	144643581		2200	4295	6495	SO:0001583	missense	79792							g.chr8:144643581C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.724C>T	8.37:g.144643581C>T	ENSP00000433209:p.Pro242Ser					GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S|GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S	p.P242S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			9	1607	+			242					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.724C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022276	0.07634	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.64	-0.515	0.11954	.	2.577270	0.01232	N	0.008370	T	0.15003	0.0362	L	0.41573	1.285	0.09310	N	1	B;B;B	0.25312	0.057;0.057;0.123	B;B;B	0.24974	0.056;0.056;0.057	T	0.09818	-1.0657	10	0.09084	T	0.74	-1.1727	2.3156	0.04198	0.1936:0.3621:0.3335:0.1108	.	242;242;290	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	242;290;242;258	ENSP00000433209:P242S;ENSP00000433958:P290S;ENSP00000262580:P242S;ENSP00000436684:P258S	ENSP00000262580:P242S	P	+	1	0	GSDMD	144714724	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.230000	0.09083	-0.115000	0.11915	0.637000	0.83480	CCA		0.617	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		21	60	0	0	0	1	0	21	60					T	144643581	C	T	144643581	3	4	79	1	0	0	0	0	1	0	0	0	6849	739	26	2	742	2	GSDMD	8	144643581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53612	144643581	1720441	9743	20060											
C8orf73	642475	broad.mit.edu	37	chr8	144654213	144654213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgacctggtcctccAaccgctcgccccgggcctcc	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144654213A>G	ENST00000398882.3	-	2	693	c.437T>C	c.(436-438)tTg>tCg	p.L146S	NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	146																	CTGGTCCTCCAACCGCTCGCC	0.672																																						ENST00000398882.3																			0											c.(436-438)tTg>tCg		maestro heat-like repeat family member 6							19	22	21					8																	144654213		1995	4157	6152	SO:0001583	missense	642475							g.chr8:144654213A>G	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.437T>C	8.37:g.144654213A>G	ENSP00000381857:p.Leu146Ser						p.L146S	NM_001100878.1	NP_001094348.1					2	693	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.437T>C	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033285	0.35893	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.35789	3.34;1.29	4.3	3.11	0.35812	.	.	.	.	.	T	0.40094	0.1103	N	0.19112	0.55	0.36035	D	0.839712	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.964	T	0.47971	-0.9075	9	0.62326	D	0.03	-3.3931	7.7158	0.28704	0.7856:0.2144:0.0:0.0	.	146;146	E9PPP7;A6NGR9	.;CH073_HUMAN	S	146	ENSP00000381857:L146S;ENSP00000436959:L146S	ENSP00000381857:L146S	L	-	2	0	C8orf73	144725356	0.913000	0.31002	0.566000	0.28421	0.059000	0.15707	1.907000	0.39897	0.665000	0.31066	0.374000	0.22700	TTG		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		5	140	0	0	0	1	0	5	140					G	144654213	A	G	144654213	3	3	79	1	0	0	0	0	1	0	0	0	2442	131	5	4	1774	4	C8orf73	8	144654213	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10632	144654213	1709809	9744	20061											
EEF1D	1936	broad.mit.edu	37	chr8	144663295	144663295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcagccgggcctccagctTggagatggcctgctgcagct	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	ENST00000529272.1	-	5	719	c.319A>G	c.(319-321)Aag>Gag	p.K107E	EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000532741.1_Missense_Mutation_p.K523E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000276844.7_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	107	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTCCAGCTTGGAGATGGCC	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)Aag>Gag		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							38	40	39					8																	144663295		2203	4298	6501	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144663295T>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.319A>G	8.37:g.144663295T>C	ENSP00000434872:p.Lys107Glu					EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|EEF1D_ENST00000529272.1_Missense_Mutation_p.K107E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000532400.1_Intron	p.K523E			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	1795	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1567A>G	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418226	0.83449	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	3.62	0.41486	.	0.093320	0.64402	D	0.000001	T	0.75488	0.3856	M	0.85197	2.74	0.48452	D	0.999657	B;B;D;B;D;P	0.62365	0.031;0.267;0.99;0.148;0.991;0.528	B;B;P;B;P;B	0.59357	0.023;0.118;0.856;0.046;0.792;0.234	T	0.75947	-0.3138	9	0.48119	T	0.1	.	9.989	0.41858	0.0:0.0:0.1702:0.8298	.	88;473;401;107;523;473	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	E	107;523;88;473;83;107;107;473;401;107;473;64;83;107;83;107;107;107;107;107;88;123	.	ENSP00000317399:K107E	K	-	1	0	EEF1D	144734438	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.572000	0.45999	0.782000	0.33613	0.374000	0.22700	AAG		0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		23	365	0	0	0	1	0	23	365					C	144663295	T	C	144663295	3	2	79	1	0	0	0	0	1	0	0	0	4942	1821	63	4	542	4	EEF1D	8	144663295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9082	144663295	1700727	9745	20062											
EEF1D	1936	broad.mit.edu	37	chr8	144671274	144671274	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcagcgtggtggcggcaCtcggcgctgtcgtaggcagg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671274C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Silent_p.E376E|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTGGCGGCACTCGGCGCTGT	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1126-1128)gaG>gaA		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							20	20	20					8																	144671274		2196	4292	6488	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671274C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2255G>A	8.37:g.144671274C>T						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron	p.E376E			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1356	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.1128G>A	CCDS6405.1																																																																																				0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		26	101	0	0	0	1	0	26	101					T	144671274	C	T	144671274	1	4	79	0	1	0	0	0	0	0	0	0	4942	564	20	2		2	EEF1D	8	144671274	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7979	144671274	1692748	9746	20063											
EEF1D	1936	broad.mit.edu	37	chr8	144671318	144671318	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccagggggcctctgCatccttctgcaggaagtaac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671318C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.A362T|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCTGCATCCTTCTGC	0.697																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1084-1086)Gca>Aca		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							17	20	19					8																	144671318		2196	4292	6488	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671318C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2299G>A	8.37:g.144671318C>T						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron	p.A362T			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1312	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1084G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118380	0.20877	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369	.	.	.	4.9	1.92	0.25849	.	0.386686	0.26738	N	0.022758	T	0.19366	0.0465	N	0.25647	0.755	0.20489	N	0.999899	B;B;B	0.29646	0.164;0.146;0.253	B;B;B	0.28232	0.04;0.038;0.087	T	0.17379	-1.0371	9	0.66056	D	0.02	.	0.867	0.01206	0.2176:0.3907:0.1873:0.2044	.	312;362;312	D3DWK1;E9PRY8;P29692-2	.;.;.	T	362;312;312;264;312	.	ENSP00000338323:A312T	A	-	1	0	EEF1D	144742461	0.949000	0.32298	0.211000	0.23655	0.568000	0.35870	2.457000	0.45005	0.552000	0.29026	0.561000	0.74099	GCA		0.697	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		25	93	0	0	0	1	0	25	93					T	144671318	C	T	144671318	1	4	79	0	1	0	0	0	0	0	0	0	4942	710	25	2		2	EEF1D	8	144671318	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	144671318	1692704	9747	20064											
TSTA3	7264	broad.mit.edu	37	chr8	144695733	144695733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggcctccaccaccgcCtcggctgcctccttgatgga	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	257					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCACCACCGCCTCGGCTGCCT	0.667																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(769-771)gaG>gaA		tissue specific transplantation antigen P35B	NADH(DB00157)						24	24	24					8																	144695733		2201	4298	6499	SO:0001819	synonymous_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695733C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.771G>A	8.37:g.144695733C>T						TSTA3_ENST00000529064.1_Silent_p.E257E	p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		9	874	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		257					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	37	c.771G>A	CCDS6408.1																																																																																				0.667	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		20	117	0	0	0	1	0	20	117					T	144695733	C	T	144695733	2	4	79	1	0	0	0	0	0	0	0	1	16727	680	24	2		2	TSTA3	8	144695733	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24415	144695733	1668289	9748	20065											
ZNF623	9831	broad.mit.edu	37	chr8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattggaagatccagacaGgagagacagctcaagtgtgc	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	91					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(271-273)Gga>Tga		zinc finger protein 623							85	86	86					8																	144732313		2203	4300	6503	SO:0001587	stop_gained	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732313G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.271G>T	8.37:g.144732313G>T	ENSP00000445979:p.Gly91*					ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	p.G91*	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	360	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		91					A4FU80|B4DGP3|E7ENV5	Nonsense_Mutation	SNP	ENST00000501748.2	37	c.271G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026268	0.97216	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5066	12.372	0.55260	0.0:0.1714:0.8286:0.0	.	.	.	.	X	51;51;51;91;91	.	ENSP00000330358:G51X	G	+	1	0	ZNF623	144803456	0.940000	0.31905	0.968000	0.41197	0.548000	0.35241	1.416000	0.34759	1.185000	0.42971	-0.150000	0.13652	GGA		0.532	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		101	462	1	0	1.44786e-46	1	1.77932e-46	101	462					T	144732313	G	T	144732313	4	4	79	1	0	0	0	0	0	1	0	0	18100	1001	35	3	273	3	ZNF623	8	144732313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	144732313	1631709	9749	20066											
ZNF707	286075	broad.mit.edu	37	chr8	144776463	144776463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttctactgcgcggactgCggcaaagccttccggaccaa	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_ENST00000418203.2_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000358656.4_Silent_p.C293C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627																																						ENST00000532205.1																			0				breast(1)	1						c.(877-879)tgC>tgT		zinc finger protein 707							28	35	33					8																	144776463		2169	4277	6446	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776463C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.879C>T	8.37:g.144776463C>T						ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C	p.C293C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1778	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		293					A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.879C>T	CCDS47932.1																																																																																				0.627	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		22	88	0	0	0	1	0	22	88					T	144776463	C	T	144776463	2	4	79	1	0	0	0	0	0	0	0	1	18164	776	27	1		1	ZNF707	8	144776463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44150	144776463	1587559	9750	20067											
MAPK15	225689	broad.mit.edu	37	chr8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagtcatccggaagggcGgcctgctgcaggacgtccac	14	14	1	0	rs375622398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(319-321)Ggc>Agc		mitogen-activated protein kinase 15			SER/GLY	1,4403		0,1,2201	22	24	23		319	-6	0	8		23	0,8600		0,0,4300	no	missense	MAPK15	NM_139021.2	56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	107/545	144800977	1,13003	2202	4300	6502	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144800977G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.319G>A	8.37:g.144800977G>A	ENSP00000337691:p.Gly107Ser					MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S	p.G107S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	438	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.319G>A	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	11.29	1.593734	0.28445	2.27E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47177	0.85;0.85;0.85	4.26	-6.0	0.02206	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.198720	0.06357	N	0.710919	T	0.29524	0.0736	L	0.37561	1.115	0.09310	N	1	B	0.22851	0.076	B	0.17722	0.019	T	0.21075	-1.0256	10	0.35671	T	0.21	.	3.4777	0.07590	0.4302:0.0:0.3001:0.2696	.	107	Q8TD08	MK15_HUMAN	S	107;124;107	ENSP00000337691:G107S;ENSP00000378539:G124S;ENSP00000378540:G107S	ENSP00000337691:G107S	G	+	1	0	MAPK15	144872965	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	1.409000	0.34680	-0.901000	0.03891	0.431000	0.28591	GGC		0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		28	114	0	0	0	1	0	28	114					A	144800977	G	A	144800977	3	1	79	1	0	0	0	0	1	0	0	0	9318	1116	39	1	337	1	MAPK15	8	144800977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24514	144800977	1563045	9751	20068											
MAPK15	225689	broad.mit.edu	37	chr8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcctgggggagatgctgCgggggagacccctgttcccc	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(637-639)Cgg>Tgg		mitogen-activated protein kinase 15							47	48	48					8																	144801568		2203	4300	6503	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801568C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.637C>T	8.37:g.144801568C>T	ENSP00000337691:p.Arg213Trp					MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W	p.R213W	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	756	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		213			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.637C>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	18.25	3.583449	0.65992	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.43688	0.94;0.94;0.94	4.14	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.233835	0.36134	N	0.002761	T	0.57184	0.2036	L	0.59436	1.845	0.32909	D	0.514219	D	0.89917	1.0	D	0.74348	0.983	T	0.67440	-0.5670	10	0.56958	D	0.05	-14.6158	13.9176	0.63908	0.0:0.561:0.439:0.0	.	213	Q8TD08	MK15_HUMAN	W	213;230;213	ENSP00000337691:R213W;ENSP00000378539:R230W;ENSP00000378540:R213W	ENSP00000337691:R213W	R	+	1	2	MAPK15	144873556	0.112000	0.22096	0.564000	0.28396	0.677000	0.39632	1.434000	0.34958	0.008000	0.14787	0.491000	0.48974	CGG		0.647	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		39	208	0	0	0	1	0	39	208					T	144801568	C	T	144801568	3	4	79	1	0	0	0	0	1	0	0	0	9318	759	27	1	663	1	MAPK15	8	144801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591	144801568	1562454	9752	20069											
FAM83H	286077	broad.mit.edu	37	chr8	144808550	144808550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtacaaggcgttggcCgtggctgaggacaggcgcgc	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144808550C>T	ENST00000388913.3	-	5	3206	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1027					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCGTTGGCCGTGGCTGAGG	0.682																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3079-3081)acG>acA		family with sequence similarity 83, member H							16	23	20					8																	144808550		2122	4230	6352	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808550C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3081G>A	8.37:g.144808550C>T							p.T1027T	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3206	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1027					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3081G>A	CCDS6410.2																																																																																				0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		7	95	0	0	0	1	0	7	95					T	144808550	C	T	144808550	2	4	79	1	0	0	0	0	0	0	0	1	5665	639	23	1		1	FAM83H	8	144808550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6982	144808550	1555472	9753	20070											
FAM83H	286077	broad.mit.edu	37	chr8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaacaggccttgcgggCgcgccggcgtgagctgcggg	18	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144810228C>T	ENST00000388913.3	-	5	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	468					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1402-1404)cGc>cAc		family with sequence similarity 83, member H							24	36	32					8																	144810228		2077	4183	6260	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810228C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1403G>A	8.37:g.144810228C>T	ENSP00000373565:p.Arg468His						p.R468H	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1528	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		468					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.1403G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	14.37	2.515846	0.44763	.	.	ENSG00000180921	ENST00000388913	T	0.17370	2.28	4.87	4.87	0.63330	.	0.336100	0.23452	U	0.048022	T	0.31606	0.0802	L	0.34521	1.04	0.21105	N	0.99979	D	0.89917	1.0	D	0.68621	0.959	T	0.09015	-1.0694	10	0.87932	D	0	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	468	Q6ZRV2	FA83H_HUMAN	H	468	ENSP00000373565:R468H	ENSP00000373565:R468H	R	-	2	0	FAM83H	144882216	0.590000	0.26815	0.971000	0.41717	0.114000	0.19823	2.320000	0.43797	2.234000	0.73211	0.555000	0.69702	CGC		0.706	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		10	237	0	0	0	1	0	10	237					T	144810228	C	T	144810228	3	4	79	1	0	0	0	0	1	0	0	0	5665	768	27	1	2140	1	FAM83H	8	144810228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678	144810228	1553794	9754	20071											
FAM83H	286077	broad.mit.edu	37	chr8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatcaagctcaggcacgGcctggtctgagttcactggc	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	103					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(307-309)gCc>gTc		family with sequence similarity 83, member H							46	53	51					8																	144812445		2059	4190	6249	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812445G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.308C>T	8.37:g.144812445G>A	ENSP00000373565:p.Ala103Val						p.A103V	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	433	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		103					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.308C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	21.2	4.115005	0.77210	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.08	4.18	0.49190	.	0.059964	0.64402	D	0.000004	T	0.28499	0.0705	L	0.51422	1.61	0.37744	D	0.925714	D	0.63880	0.993	D	0.63381	0.914	T	0.09122	-1.0689	10	0.52906	T	0.07	.	14.1178	0.65167	0.0:0.0:0.8485:0.1515	.	103	Q6ZRV2	FA83H_HUMAN	V	103	ENSP00000373565:A103V	ENSP00000373565:A103V	A	-	2	0	FAM83H	144884433	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	3.843000	0.55865	1.242000	0.43836	0.561000	0.74099	GCC		0.627	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		35	313	0	0	0	1	0	35	313					A	144812445	G	A	144812445	3	1	79	1	0	0	0	0	1	0	0	0	5665	1203	42	2	3247	2	FAM83H	8	144812445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2217	144812445	1551577	9755	20072											
FAM83H	286077	broad.mit.edu	37	chr8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgaggagctctgagagCgacgggccatgttggggcca	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	4					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(10-12)cGc>cAc		family with sequence similarity 83, member H							11	12	12					8																	144812742		1901	3931	5832	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812742C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.11G>A	8.37:g.144812742C>T	ENSP00000373565:p.Arg4His						p.R4H	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	136	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.11G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	31	5.103443	0.94245	.	.	ENSG00000180921	ENST00000388913	T	0.31769	1.48	4.62	4.62	0.57501	.	0.238609	0.34314	N	0.004066	T	0.53802	0.1819	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58526	-0.7621	10	0.87932	D	0	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	4	Q6ZRV2	FA83H_HUMAN	H	4	ENSP00000373565:R4H	ENSP00000373565:R4H	R	-	2	0	FAM83H	144884730	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.719000	0.68462	2.285000	0.76669	0.478000	0.44815	CGC		0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		21	125	0	0	0	1	0	21	125					T	144812742	C	T	144812742	3	4	79	1	0	0	0	0	1	0	0	0	5665	768	27	1	3544	1	FAM83H	8	144812742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	144812742	1551280	9756	20073											
SCRIB	23513	broad.mit.edu	37	chr8	144885613	144885613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcacggtgagggtgtcGcccacactgcggagcagctg	15	13	0	1	rs536818456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000320476.3	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000356994.2_Silent_p.G1181G|SCRIB_ENST00000377533.3_Silent_p.G1100G	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1181	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		11261	0.0		0.0	False		,,,				2504	0.001				Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3541-3543)ggC>ggT		scribbled planar cell polarity protein							20	20	20					8																	144885613		2191	4291	6482	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885613G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3543C>T	8.37:g.144885613G>A						SCRIB_ENST00000377533.3_Silent_p.G1100G|SCRIB_ENST00000320476.3_Silent_p.G1181G	p.G1181G	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3549	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1181			Interaction with ARHGEF7.|PDZ 4.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.3543C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372995	0.05034	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2487	0.01978	0.3264:0.2015:0.3352:0.137	.	.	.	.	X	177	.	.	R	-	1	2	SCRIB	144957601	0.000000	0.05858	0.972000	0.41901	0.088000	0.18126	-3.061000	0.00623	-0.478000	0.06823	-0.518000	0.04402	CGA		0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		17	77	0	0	0	1	0	17	77					A	144885613	G	A	144885613	2	1	79	1	0	0	0	0	0	0	0	1	13987	1074	38	1		1	SCRIB	8	144885613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72871	144885613	1478409	9757	20074											
SCRIB	23513	broad.mit.edu	37	chr8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggcgcagaaaccacgGccccctccttgtcctcctcc	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000320476.3	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000356994.2_Missense_Mutation_p.A697V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2089-2091)gCc>gTc		scribbled planar cell polarity protein							153	131	139					8																	144890804		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890804G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2090C>T	8.37:g.144890804G>A	ENSP00000322938:p.Ala697Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A697V	p.A697V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	2096	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		697			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2090C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303627	0.40795	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37058	1.45;1.42;1.22;1.91	4.2	2.34	0.29019	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	9	0.26408	T	0.33	.	6.0112	0.19578	0.1011:0.0:0.7118:0.1871	.	697;697	Q14160;Q14160-3	SCRIB_HUMAN;.	V	697;697;616;66;15	ENSP00000349486:A697V;ENSP00000322938:A697V;ENSP00000366756:A616V;ENSP00000433546:A15V	ENSP00000322938:A697V	A	-	2	0	SCRIB	144962792	0.139000	0.22563	0.001000	0.08648	0.412000	0.31113	2.734000	0.47368	0.342000	0.23796	0.401000	0.26515	GCC		0.637	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		44	199	0	0	0	1	0	44	199					A	144890804	G	A	144890804	3	1	79	1	0	0	0	0	1	0	0	0	13987	1203	42	2	2969	2	SCRIB	8	144890804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5191	144890804	1473218	9758	20075											
SCRIB	23513	broad.mit.edu	37	chr8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctgaggactaccctctTcctcctcctcctcctccttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890900_144890902delTCC	ENST00000320476.3	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_ENST00000356994.2_In_Frame_Del_p.664_665EE>E|SCRIB_ENST00000377533.3_In_Frame_Del_p.583_584EE>E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1990-1995)gaa>ga		scribbled planar cell polarity protein																																				SO:0001651	inframe_deletion	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890900_144890902delTCC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1992_1994delGGA	8.37:g.144890909_144890911delTCC	ENSP00000322938:p.Glu666del					SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del|SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del	p.EE664del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1998_2000	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		664			Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	In_Frame_Del	DEL	ENST00000320476.3	37	c.1992_1994delGGA	CCDS6411.1																																																																																				0.665	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		7	297						7	297	---	---	---	---	-	144890902	TCC	-	144890900	7	5	79	1	0	1	0	1	0	0	0	0	13987	1783	62	0	3065	0	SCRIB	8	144890900	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	96	144890900	1473122	9759	20076											
SCRIB	23513	broad.mit.edu	37	chr8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctcaaggagaggacgCtgagtgccacacagcccccg	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000320476.3	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000356994.2_Missense_Mutation_p.S338I|SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1012-1014)aGc>aTc		scribbled planar cell polarity protein							30	25	27					8																	144893409		2200	4296	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893409C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1013G>T	8.37:g.144893409C>A	ENSP00000322938:p.Ser338Ile					SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|SCRIB_ENST00000320476.3_Missense_Mutation_p.S338I	p.S338I	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1019	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		338			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1013G>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854506	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.52295	2.24;0.67;1.85	3.28	1.39	0.22231	.	.	.	.	.	T	0.31670	0.0804	N	0.20328	0.56	0.32440	N	0.546881	P;P	0.43973	0.725;0.823	B;B	0.43838	0.347;0.433	T	0.43393	-0.9394	9	0.72032	D	0.01	.	4.1911	0.10421	0.0:0.5296:0.2014:0.2691	.	338;338	Q14160;Q14160-3	SCRIB_HUMAN;.	I	338;338;257	ENSP00000349486:S338I;ENSP00000322938:S338I;ENSP00000366756:S257I	ENSP00000322938:S338I	S	-	2	0	SCRIB	144965397	0.998000	0.40836	0.056000	0.19401	0.002000	0.02628	3.038000	0.49783	0.694000	0.31654	-0.302000	0.09304	AGC		0.672	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		19	84	1	0	1.33834e-09	1	1.40959e-09	19	84					A	144893409	C	A	144893409	3	1	79	1	0	0	0	0	1	0	0	0	13987	797	28	3	4066	3	SCRIB	8	144893409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2509	144893409	1470613	9760	20077											
PUF60	22827	broad.mit.edu	37	chr8	144899948	144899948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacgactgggccttctcGtactctgtgggcaggagcag	16	10	2	0	rs373613651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.Y257Y|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000313352.7_Silent_p.Y214Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0					ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(820-822)taC>taT		poly-U binding splicing factor 60KDa		G	,,	0,4302		0,0,2151	20	26	24		693,771,822	-1.6	1	8		24	2,8496		0,2,4247	no	coding-synonymous,coding-synonymous,coding-synonymous	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	,,	0,2,6398	AA,AG,GG		0.0235,0.0,0.0156	,,	231/517,257/543,274/560	144899948	2,12798	2151	4249	6400	SO:0001819	synonymous_variant	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899948G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.822C>T	8.37:g.144899948G>A						PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.Y257Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000456095.2_Silent_p.Y245Y	p.Y274Y	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		9	1377	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		274			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	c.822C>T	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174581	0.09391	0.0	2.35E-4	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.92	-1.58	0.08479	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48896	-0.8994	4	.	.	.	.	9.2127	0.37328	0.7488:0.0:0.2512:0.0	.	.	.	.	M	144;272	.	.	T	-	2	0	PUF60	144971936	0.069000	0.21087	0.994000	0.49952	0.853000	0.48598	-0.440000	0.06888	-0.350000	0.08262	-1.119000	0.02030	ACG		0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		26	94	0	0	0	1	0	26	94					A	144899948	G	A	144899948	2	1	79	1	0	0	0	0	0	0	0	1	12874	1140	40	1		1	PUF60	8	144899948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6539	144899948	1464074	9761	20078											
NRBP2	340371	broad.mit.edu	37	chr8	144919856	144919856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcacctcgaagagcacGcggtggaagaggaggctgtg	18	8	0	2	rs192975604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144919856G>A	ENST00000442628.2	-	11	1051	c.912C>T	c.(910-912)cgC>cgT	p.R304R	NRBP2_ENST00000327830.5_Silent_p.R61R	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAAGAGCACGCGGTGGAAGA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13327	0.0		0.001	False		,,,				2504	0.0					ENST00000442628.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)	5						c.(910-912)cgC>cgT		nuclear receptor binding protein 2		G		0,4390		0,0,2195	28	33	31		912	-8.6	0.5	8		31	2,8576		0,2,4287	yes	coding-synonymous	NRBP2	NM_178564.3		0,2,6482	AA,AG,GG		0.0233,0.0,0.0154		304/502	144919856	2,12966	2195	4289	6484	SO:0001819	synonymous_variant	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144919856G>A	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.912C>T	8.37:g.144919856G>A						NRBP2_ENST00000327830.5_Silent_p.R61R	p.R304R	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1051	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		304			Protein kinase.			Silent	SNP	ENST00000442628.2	37	c.912C>T	CCDS34959.2																																																																																				0.692	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564		6	42	0	0	0	1	0	6	42					A	144919856	G	A	144919856	2	1	79	1	0	0	0	0	0	0	0	1	10685	1074	38	1		1	NRBP2	8	144919856	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19908	144919856	1444166	9762	20079											
EPPK1	83481	broad.mit.edu	37	chr8	144940245	144940245	+	Missense_Mutation	SNP	C	C	T													ctgcaggtacgtgaggttctCgtgcgtgttggggtcgaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940245C>T	ENST00000525985.1	-	2	7248	c.7177G>A	c.(7177-7179)Gag>Aag	p.E2393K				P58107	EPIPL_HUMAN	epiplakin 1	2393						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.E2393K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGAGGTTCTCGTGCGTGTTG	0.627																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.E2393K(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7177-7179)Gag>Aag		epiplakin 1							188	182	184					8																	144940245		2170	4257	6427	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940245C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7177G>A	8.37:g.144940245C>T	ENSP00000436337:p.Glu2393Lys						p.E2393K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7248	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2393					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7177G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.340785	0.95783	.	.	ENSG00000227184	ENST00000525985	T	0.71579	-0.58	4.43	4.43	0.53597	.	.	.	.	.	T	0.80138	0.4568	L	0.55834	1.745	0.49299	D	0.999773	D	0.89917	1.0	D	0.85130	0.997	T	0.79697	-0.1695	9	0.44086	T	0.13	.	14.9464	0.71035	0.0:1.0:0.0:0.0	.	2393	E9PPU0	.	K	2393	ENSP00000436337:E2393K	ENSP00000436337:E2393K	E	-	1	0	EPPK1	145012233	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.555000	0.82223	2.455000	0.83008	0.591000	0.81541	GAG		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	1799	0	0	0	1	0	41	1799					T	144940245	C	T	144940245	3	4	79	1	0	0	0	0	1	0	0	0	5208	893	31	1	89	1	EPPK1	8	144940245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20389	144940245	1423777	9763	20080	125	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940249	144940249	+	Silent	SNP	C	C	T													aggtacgtgaggttctcgtgCgtgttggggtcgaagaagcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940249C>T	ENST00000525985.1	-	2	7244	c.7173G>A	c.(7171-7173)acG>acA	p.T2391T				P58107	EPIPL_HUMAN	epiplakin 1	2391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCTCGTGCGTGTTGGGGT	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7171-7173)acG>acA		epiplakin 1							210	201	204					8																	144940249		2178	4262	6440	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940249C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7173G>A	8.37:g.144940249C>T							p.T2391T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7244	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2391					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7173G>A																																																																																					0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		47	2038	0	0	0	1	0	47	2038					T	144940249	C	T	144940249	2	4	79	1	0	0	0	0	0	0	0	1	5208	755	27	1		1	EPPK1	8	144940249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	144940249	1423773	9764	20081	125	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940360	144940360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccacgggcacgcggtgGctgtgcacggggtcgatgac	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940360G>A	ENST00000525985.1	-	2	7133	c.7062C>T	c.(7060-7062)agC>agT	p.S2354S				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACGCGGTGGCTGTGCACGG	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7060-7062)agC>agT		epiplakin 1							192	186	188					8																	144940360		2163	4228	6391	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940360G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7062C>T	8.37:g.144940360G>A							p.S2354S			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7133	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2354					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7062C>T																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		62	2690	0	0	0	1	0	62	2690					A	144940360	G	A	144940360	2	1	79	1	0	0	0	0	0	0	0	1	5208	1194	42	2		2	EPPK1	8	144940360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	144940360	1423662	9765	20082											
EPPK1	83481	broad.mit.edu	37	chr8	144940412	144940412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctgggcctccagcaggCggatgccgtgctcccggacg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940412C>T	ENST00000525985.1	-	2	7081	c.7010G>A	c.(7009-7011)cGc>cAc	p.R2337H				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGCAGGCGGATGCCGTG	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7009-7011)cGc>cAc		epiplakin 1							166	166	166					8																	144940412		2154	4232	6386	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940412C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7010G>A	8.37:g.144940412C>T	ENSP00000436337:p.Arg2337His						p.R2337H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7081	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2337					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7010G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.294161	0.95546	.	.	ENSG00000227184	ENST00000525985	T	0.80033	-1.33	4.39	4.39	0.52855	.	.	.	.	.	D	0.91693	0.7374	M	0.94021	3.485	0.48040	D	0.999577	D	0.89917	1.0	D	0.97110	1.0	D	0.92847	0.6294	9	0.49607	T	0.09	.	14.9269	0.70887	0.0:1.0:0.0:0.0	.	2337	E9PPU0	.	H	2337	ENSP00000436337:R2337H	ENSP00000436337:R2337H	R	-	2	0	EPPK1	145012400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.733000	0.62036	2.451000	0.82905	0.586000	0.80456	CGC		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		60	2389	0	0	0	1	0	60	2389					T	144940412	C	T	144940412	3	4	79	1	0	0	0	0	1	0	0	0	5208	768	27	1	256	1	EPPK1	8	144940412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	144940412	1423610	9766	20083											
EPPK1	83481	broad.mit.edu	37	chr8	144940647	144940647	+	Missense_Mutation	SNP	C	C	A													cgcctccagcagcaccagggCcgtgccgggccgcagcacgc					rs202019740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940647C>A	ENST00000525985.1	-	2	6846	c.6775G>T	c.(6775-6777)Gcc>Tcc	p.A2259S				P58107	EPIPL_HUMAN	epiplakin 1	2259						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCAGGGCCGTGCCGGGC	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6775-6777)Gcc>Tcc		epiplakin 1		C	SER/ALA	0,4302		0,0,2151	44	41	42		6775	4.7	1	8		42	4,8492		0,4,4244	yes	missense	EPPK1	NM_031308.1	99	0,4,6395	AA,AC,CC		0.0471,0.0,0.0313	probably-damaging	2259/2420	144940647	4,12794	2151	4248	6399	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940647C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6775G>T	8.37:g.144940647C>A	ENSP00000436337:p.Ala2259Ser						p.A2259S			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6846	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2259					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6775G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051270	0.75960	0.0	4.71E-4	ENSG00000227184	ENST00000525985	T	0.76709	-1.04	4.67	4.67	0.58626	.	.	.	.	.	D	0.86973	0.6062	M	0.70787	2.145	0.26347	N	0.977271	D	0.56968	0.978	D	0.73380	0.98	T	0.79347	-0.1841	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2259	E9PPU0	.	S	2259	ENSP00000436337:A2259S	ENSP00000436337:A2259S	A	-	1	0	EPPK1	145012635	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.203000	0.51075	2.420000	0.82092	0.591000	0.81541	GCC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	490	1	0	1.05317e-09	1	1.11087e-09	11	490					A	144940647	C	A	144940647	3	1	79	1	0	0	0	0	1	0	0	0	5208	739	26	3	491	3	EPPK1	8	144940647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	144940647	1423375	9767	20084	126	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940652	144940652	+	Missense_Mutation	SNP	C	C	T													ccagcagcaccagggccgtgCcgggccgcagcacgcccttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940652C>T	ENST00000525985.1	-	2	6841	c.6770G>A	c.(6769-6771)gGc>gAc	p.G2257D				P58107	EPIPL_HUMAN	epiplakin 1	2257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGCCGTGCCGGGCCGCAG	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6769-6771)gGc>gAc		epiplakin 1							46	44	45					8																	144940652		2166	4253	6419	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940652C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6770G>A	8.37:g.144940652C>T	ENSP00000436337:p.Gly2257Asp						p.G2257D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6841	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2257					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6770G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.085865	0.76642	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.67	4.67	0.58626	.	.	.	.	.	T	0.77157	0.4089	L	0.45744	1.44	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.71115	-0.4686	9	0.12430	T	0.62	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2257	E9PPU0	.	D	2257	ENSP00000436337:G2257D	ENSP00000436337:G2257D	G	-	2	0	EPPK1	145012640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.909000	0.56363	2.420000	0.82092	0.591000	0.81541	GGC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	498	0	0	0	1	0	11	498					T	144940652	C	T	144940652	3	4	79	1	0	0	0	0	1	0	0	0	5208	739	26	2	496	2	EPPK1	8	144940652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	144940652	1423370	9768	20085	126	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940665	144940665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgccgggccgcagcaCgcccttccacatggcctggt	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940665C>T	ENST00000525985.1	-	2	6828	c.6757G>A	c.(6757-6759)Gtg>Atg	p.V2253M				P58107	EPIPL_HUMAN	epiplakin 1	2253						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCAGCACGCCCTTCCAC	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6757-6759)Gtg>Atg		epiplakin 1							54	51	52					8																	144940665		2182	4261	6443	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940665C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6757G>A	8.37:g.144940665C>T	ENSP00000436337:p.Val2253Met						p.V2253M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6828	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2253					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6757G>A		.	.	.	.	.	.	.	.	.	.	C	16.21	3.058856	0.55325	.	.	ENSG00000227184	ENST00000525985	T	0.73789	-0.78	4.67	-4.14	0.03892	.	.	.	.	.	T	0.70518	0.3233	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.63954	-0.6520	9	0.41790	T	0.15	.	9.438	0.38650	0.0:0.162:0.6285:0.2095	.	2253	E9PPU0	.	M	2253	ENSP00000436337:V2253M	ENSP00000436337:V2253M	V	-	1	0	EPPK1	145012653	0.000000	0.05858	0.819000	0.32651	0.999000	0.98932	-1.087000	0.03383	-0.705000	0.05035	0.591000	0.81541	GTG		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	582	0	0	0	1	0	12	582					T	144940665	C	T	144940665	3	4	79	1	0	0	0	0	1	0	0	0	5208	536	19	1	509	1	EPPK1	8	144940665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	144940665	1423357	9769	20086											
EPPK1	83481	broad.mit.edu	37	chr8	144942172	144942172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtacaggcccgtctcGgggtcctccacacagcgctc	12	16	1	0	rs546164646	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	1750						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.P1750P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17666	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1																			1	Substitution - coding silent(1)	p.P1750P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5248-5250)ccC>ccT		epiplakin 1							100	104	102					8																	144942172		2008	4162	6170	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942172G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5250C>T	8.37:g.144942172G>A							p.P1750P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5321	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1750					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5250C>T																																																																																					0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		92	401	0	0	0	1	0	92	401					A	144942172	G	A	144942172	2	1	79	1	0	0	0	0	0	0	0	1	5208	1103	39	1		1	EPPK1	8	144942172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1507	144942172	1421850	9770	20087											
EPPK1	83481	broad.mit.edu	37	chr8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgcagtcagcacctggCtcgtctgtgtgtccagaagg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1	1390						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4168-4170)aGc>aAc		epiplakin 1							22	27	25					8																	144943253		2177	4268	6445	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943253C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4169G>A	8.37:g.144943253C>T	ENSP00000436337:p.Ser1390Asn						p.S1390N			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4240	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1390					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4169G>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.287631	0.00248	.	.	ENSG00000227184	ENST00000525985	T	0.73152	-0.72	4.66	-2.64	0.06114	.	.	.	.	.	T	0.39462	0.1079	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.22706	T	0.39	.	0.3204	0.00302	0.2544:0.2566:0.2497:0.2394	.	1390	E9PPU0	.	N	1390	ENSP00000436337:S1390N	ENSP00000436337:S1390N	S	-	2	0	EPPK1	145015241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.376000	0.07943	-0.137000	0.14449	AGC		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	157	0	0	0	1	0	41	157					T	144943253	C	T	144943253	3	4	79	1	0	0	0	0	1	0	0	0	5208	797	28	2	3097	2	EPPK1	8	144943253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1081	144943253	1420769	9771	20088											
EPPK1	83481	broad.mit.edu	37	chr8	144945010	144945010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggcactgtccaccagCggggactgcgtgctgctgag	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1	804						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCACCAGCGGGGACTGCG	0.637																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2410-2412)ccG>ccA		epiplakin 1							41	48	46					8																	144945010		2084	4201	6285	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945010C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2412G>A	8.37:g.144945010C>T							p.P804P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2483	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		804					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2412G>A																																																																																					0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		24	257	0	0	0	1	0	24	257					T	144945010	C	T	144945010	2	4	79	1	0	0	0	0	0	0	0	1	5208	755	27	1		1	EPPK1	8	144945010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757	144945010	1419012	9772	20089											
EPPK1	83481	broad.mit.edu	37	chr8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtagtggcacgctcaGcggccagcagcttctccttc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1	115						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(343-345)gCt>gAt		epiplakin 1							25	30	28					8																	144947078		2044	4185	6229	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947078G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.344C>A	8.37:g.144947078G>T	ENSP00000436337:p.Ala115Asp						p.A115D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	415	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		115					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.344C>A		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197863	0.58126	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.88055	0.6334	M	0.83774	2.66	0.43308	D	0.99531	D	0.89917	1.0	D	0.80764	0.994	D	0.89571	0.3813	9	0.62326	D	0.03	.	14.5862	0.68326	0.0:0.0:1.0:0.0	.	115	E9PPU0	.	D	115	ENSP00000436337:A115D	ENSP00000436337:A115D	A	-	2	0	EPPK1	145019066	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	7.583000	0.82559	2.304000	0.77564	0.407000	0.27541	GCT		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		46	238	1	0	2.24722e-20	1	2.51766e-20	46	238					T	144947078	G	T	144947078	3	4	79	1	0	0	0	0	1	0	0	0	5208	971	34	3	6922	3	EPPK1	8	144947078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	144947078	1416944	9773	20090											
PLEC	5339	broad.mit.edu	37	chr8	144991209	144991209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggtcctggagacggcGgggctgatggggtaggagga	22	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000354958.2_Silent_p.P4238P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4397	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAGACGGCGGGGCTGATGG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13189-13191)ccC>ccT		plectin							36	45	42					8																	144991209		2025	4179	6204	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991209G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13191C>T	8.37:g.144991209G>A						PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000436759.2_Silent_p.P4287P	p.P4397P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13360	-			4397			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13191C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		35	347	0	0	0	1	0	35	347					A	144991209	G	A	144991209	2	1	79	1	0	0	0	0	0	0	0	1	12094	1103	39	1		1	PLEC	8	144991209	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44131	144991209	1372813	9774	20091											
PLEC	5339	broad.mit.edu	37	chr8	144991545	144991545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacactgacatctccttgccCgtctcggggtccacgatgac	9	15	2	2	rs143548638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000354958.2_Silent_p.T4126T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4285	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTGCCCGTCTCGGGGT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		19843	0.0		0.002	False		,,,				2504	0.002					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12853-12855)acG>acA		plectin		C	,,,,,,,	0,4282		0,0,2141	74	82	79		12525,12402,12378,12855,12348,12444,12456,12444	-2.4	1	8	dbSNP_134	79	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6382	TT,TC,CC		0.0118,0.0,0.0078	,,,,,,,	4175/4575,4134/4534,4126/4526,4285/4685,4116/4516,4148/4548,4152/4552,4148/4548	144991545	1,12765	2141	4242	6383	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991545C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12855G>A	8.37:g.144991545C>T						PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000436759.2_Silent_p.T4175T	p.T4285T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13024	-			4285			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12855G>A	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		71	328	0	0	0	1	0	71	328					T	144991545	C	T	144991545	2	4	79	1	0	0	0	0	0	0	0	1	12094	639	23	1		1	PLEC	8	144991545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	144991545	1372477	9775	20092											
PLEC	5339	broad.mit.edu	37	chr8	144991599	144991599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacggaggacttggaggaCgtcttccgctcccgcttctt	12	14	2	0	rs200575172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000354958.2_Silent_p.T4108T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4267	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGAGGACGTCTTCCGCT	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.0	False		,,,				2504	0.001					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12799-12801)acG>acA		plectin							60	66	64					8																	144991599		2104	4217	6321	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991599C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12801G>A	8.37:g.144991599C>T						PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000436759.2_Silent_p.T4157T	p.T4267T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12970	-			4267			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12801G>A	CCDS43772.1																																																																																				0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	351	0	0	0	1	0	24	351					T	144991599	C	T	144991599	2	4	79	1	0	0	0	0	0	0	0	1	12094	523	19	1		1	PLEC	8	144991599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	144991599	1372423	9776	20093											
PLEC	5339	broad.mit.edu	37	chr8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggtgaggttctcctccGtgttagggtcaaagaagccc	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4232	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCTCCTCCGTGTTAGGGTC	0.607																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12694-12696)aCg>aTg		plectin							60	66	64					8																	144991705		2095	4207	6302	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991705G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12695C>T	8.37:g.144991705G>A	ENSP00000323856:p.Thr4232Met					PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M	p.T4232M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12864	-			4232			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12695C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034364	0.35893	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.90896	0.7139	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.92048	0.5646	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4122;4081;4073;4232;4063;4095;4099;4095	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4095;4099;4095;4063;4232;4073;4081;4122;4118	ENSP00000344848:T4095M;ENSP00000350277:T4099M;ENSP00000346602:T4095M;ENSP00000381756:T4063M;ENSP00000323856:T4232M;ENSP00000347044:T4073M;ENSP00000348702:T4081M;ENSP00000388180:T4122M;ENSP00000434583:T4118M	ENSP00000323856:T4232M	T	-	2	0	PLEC	145063693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.595000	0.98260	2.679000	0.91253	0.549000	0.68633	ACG		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		96	419	0	0	0	1	0	96	419					A	144991705	G	A	144991705	3	1	79	1	0	0	0	0	1	0	0	0	12094	1145	40	1	1363	1	PLEC	8	144991705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	144991705	1372317	9777	20094											
PLEC	5339	broad.mit.edu	37	chr8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccctcccggagcaggTtgtaggtctcgagagagatg	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11401-11403)aAc>aGc		plectin							34	40	38					8																	144992998		2010	4159	6169	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992998T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11402A>G	8.37:g.144992998T>C	ENSP00000323856:p.Asn3801Ser					PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S	p.N3801S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11571	-			3801			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11402A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		43	321	0	0	0	1	0	43	321					C	144992998	T	C	144992998	3	2	79	1	0	0	0	0	1	0	0	0	12094	1725	60	4	2656	4	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1293	144992998	1371024	9778	20095											
PLEC	5339	broad.mit.edu	37	chr8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccacctcggctacgTctcgcacagagcgctcacct	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3146	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCTACGTCTCGCACAGA	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9436-9438)gAc>gGc		plectin							24	28	27					8																	144994963		2064	4173	6237	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994963T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9437A>G	8.37:g.144994963T>C	ENSP00000323856:p.Asp3146Gly					PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G	p.D3146G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9606	-			3146			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9437A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478516	0.12521	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.6	4.6	0.57074	.	0.083430	0.46145	U	0.000302	T	0.64294	0.2585	M	0.67953	2.075	0.29047	N	0.884764	B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.039;0.023;0.039;0.039;0.039;0.039	B;B;B;B;B;B;B;B	0.22152	0.031;0.038;0.038;0.014;0.038;0.031;0.031;0.031	T	0.60141	-0.7321	10	0.33940	T	0.23	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	3036;2995;2987;3146;2977;3009;3013;3009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	3009;3013;3009;2977;3146;2987;2995;3036;3032	ENSP00000344848:D3009G;ENSP00000350277:D3013G;ENSP00000346602:D3009G;ENSP00000381756:D2977G;ENSP00000323856:D3146G;ENSP00000347044:D2987G;ENSP00000348702:D2995G;ENSP00000388180:D3036G;ENSP00000434583:D3032G	ENSP00000323856:D3146G	D	-	2	0	PLEC	145066951	1.000000	0.71417	0.337000	0.25536	0.168000	0.22595	4.699000	0.61796	1.852000	0.53769	0.368000	0.22195	GAC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		60	273	0	0	0	1	0	60	273					C	144994963	T	C	144994963	3	2	79	1	0	0	0	0	1	0	0	0	12094	1667	58	4	4621	4	PLEC	8	144994963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1965	144994963	1369059	9779	20096											
PLEC	5339	broad.mit.edu	37	chr8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgatctgggcctccaGcaggcggatgccgtgctccc	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2943	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCCTCCAGCAGGCGGATG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8827-8829)Ctg>Atg		plectin							45	50	48					8																	144995573		1991	4149	6140	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995573G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8827C>A	8.37:g.144995573G>T	ENSP00000323856:p.Leu2943Met					PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M	p.L2943M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8996	-			2943			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8827C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867622	0.32977	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.95	4.07	0.47477	.	0.000000	0.52532	U	0.000073	D	0.96719	0.8929	M	0.86343	2.81	0.49051	D	0.999745	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97029	0.9749	10	0.72032	D	0.01	.	13.1119	0.59278	0.0792:0.0:0.9208:0.0	.	2833;2792;2784;2943;2774;2806;2810;2806	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2806;2810;2806;2774;2943;2784;2792;2833;2829	ENSP00000344848:L2806M;ENSP00000350277:L2810M;ENSP00000346602:L2806M;ENSP00000381756:L2774M;ENSP00000323856:L2943M;ENSP00000347044:L2784M;ENSP00000348702:L2792M;ENSP00000388180:L2833M;ENSP00000434583:L2829M	ENSP00000323856:L2943M	L	-	1	2	PLEC	145067561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.236000	0.43740	0.456000	0.33151	CTG		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		110	532	1	0	6.01805e-51	1	7.46351e-51	110	532					T	144995573	G	T	144995573	3	4	79	1	0	0	0	0	1	0	0	0	12094	962	34	3	5231	3	PLEC	8	144995573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	144995573	1368449	9780	20097											
PLEC	5339	broad.mit.edu	37	chr8	144995861	144995861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcgtaaacactcaGcttctcattggtggccttca	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000354958.2_Silent_p.L2688L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2847	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAAACACTCAGCTTCTCATTG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8539-8541)Ctg>Ttg		plectin							42	47	45					8																	144995861		2172	4265	6437	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995861G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8539C>T	8.37:g.144995861G>A						PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000436759.2_Silent_p.L2737L	p.L2847L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8708	-			2847			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8539C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		68	324	0	0	0	1	0	68	324					A	144995861	G	A	144995861	2	1	79	1	0	0	0	0	0	0	0	1	12094	962	34	2		2	PLEC	8	144995861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288	144995861	1368161	9781	20098											
PLEC	5339	broad.mit.edu	37	chr8	144995928	144995928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggtagtggcgcacGtcttcccgccgtgcgagctc	13	16	1	0	rs542710594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000354958.2_Silent_p.D2665D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2824	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTGGCGCACGTCTTCCCGCC	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8470-8472)gaC>gaT		plectin							34	37	36					8																	144995928		2166	4266	6432	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995928G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8472C>T	8.37:g.144995928G>A						PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000436759.2_Silent_p.D2714D	p.D2824D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8641	-			2824			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8472C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		69	304	0	0	0	1	0	69	304					A	144995928	G	A	144995928	2	1	79	1	0	0	0	0	0	0	0	1	12094	1136	40	1		1	PLEC	8	144995928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	144995928	1368094	9782	20099											
PLEC	5339	broad.mit.edu	37	chr8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcaccagggtcaccttctCctgggtggcgagctccgtgc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2563	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACCTTCTCCTGGGTGGCG	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7687-7689)Gag>Tag		plectin							39	43	42					8																	144996821		2185	4279	6464	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996821C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7687G>T	8.37:g.144996821C>A	ENSP00000323856:p.Glu2563*					PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*	p.E2563*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7856	-			2563			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.7687G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	50	16.408845	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.29	4.29	0.51040	.	0.167572	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	.	.	.	X	2426;2430;2426;2394;2563;2404;2412;2453;2449	.	ENSP00000323856:E2563X	E	-	1	0	PLEC	145068809	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	2.154000	0.42291	2.228000	0.72767	0.549000	0.68633	GAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		26	123	1	0	1.77063e-15	1	1.9355e-15	26	123					A	144996821	C	A	144996821	4	1	79	1	0	0	0	0	0	1	0	0	12094	864	30	3	6375	3	PLEC	8	144996821	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	893	144996821	1367201	9783	20100											
PLEC	5339	broad.mit.edu	37	chr8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcacgcaagatgagtgCgcggttctcagcctcgatgc	12	12	2	2	rs62641756	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19154	0.0		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7168-7170)Gca>Aca		plectin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	33,4355		0,33,2161	26	26	26		6757,6769,6757,6661,7168,6691,6715,6838	0.9	0	8	dbSNP_129	26	1,8583		0,1,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	58,58,58,58,58,58,58,58	0,34,6452	TT,TC,CC		0.0116,0.7521,0.2621	benign,benign,benign,benign,benign,benign,benign,benign	2253/4548,2257/4552,2253/4548,2221/4516,2390/4685,2231/4526,2239/4534,2280/4575	144997340	34,12938	2194	4292	6486	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997340C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7168G>A	8.37:g.144997340C>T	ENSP00000323856:p.Ala2390Thr					PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T	p.A2390T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7337	-			2390			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7168G>A	CCDS43772.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	1.455	-0.564004	0.03939	0.007521	1.16E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.98;-0.98;-1.02;-1.01;-1.0;-0.98;-0.98;-0.98;-0.98	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.53610	0.1807	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.004;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.39683	-0.9602	10	0.23302	T	0.38	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253T;ENSP00000350277:A2257T;ENSP00000346602:A2253T;ENSP00000381756:A2221T;ENSP00000323856:A2390T;ENSP00000347044:A2231T;ENSP00000348702:A2239T;ENSP00000388180:A2280T;ENSP00000434583:A2276T	ENSP00000323856:A2390T	A	-	1	0	PLEC	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		42	146	0	0	0	1	0	42	146					T	144997340	C	T	144997340	3	4	79	1	0	0	0	0	1	0	0	0	12094	768	27	1	6894	1	PLEC	8	144997340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	144997340	1366682	9784	20101											
PLEC	5339	broad.mit.edu	37	chr8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctccatctgcacgcGcaccgagaagagctcctcct	8	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2371	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTGCACGCGCACCGAGAAG	0.642																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7111-7113)Cgc>Tgc		plectin							25	26	26					8																	144997397		2186	4273	6459	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997397G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7111C>T	8.37:g.144997397G>A	ENSP00000323856:p.Arg2371Cys					PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C	p.R2371C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7280	-			2371			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7111C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205970	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.15;-1.15;-1.18;-1.18;-1.16;-1.14;-1.21;-1.15;-1.15	5.11	4.14	0.48551	.	0.099669	0.39341	U	0.001393	T	0.78246	0.4253	L	0.43923	1.385	0.50813	D	0.999893	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.736;0.549;0.736;0.736;0.736;0.736	T	0.80741	-0.1247	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.0:0.6987:0.3013	.	2261;2220;2212;2371;2202;2234;2238;2234	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2234;2238;2234;2202;2371;2212;2220;2261;2257	ENSP00000344848:R2234C;ENSP00000350277:R2238C;ENSP00000346602:R2234C;ENSP00000381756:R2202C;ENSP00000323856:R2371C;ENSP00000347044:R2212C;ENSP00000348702:R2220C;ENSP00000388180:R2261C;ENSP00000434583:R2257C	ENSP00000323856:R2371C	R	-	1	0	PLEC	145069385	0.962000	0.33011	0.983000	0.44433	0.044000	0.14063	3.072000	0.50049	2.372000	0.80975	0.549000	0.68633	CGC		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		38	167	0	0	0	1	0	38	167					A	144997397	G	A	144997397	3	1	79	1	0	0	0	0	1	0	0	0	12094	1087	38	1	6951	1	PLEC	8	144997397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	144997397	1366625	9785	20102											
PLEC	5339	broad.mit.edu	37	chr8	144997698	144997698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgcagcttctctgcagcCgcctgtgcctgagcccgggc	13	16	1	1	rs375489890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000354958.2_Silent_p.A2111A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2270	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGCAGCCGCCTGTGCCT	0.736																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6808-6810)gcG>gcA		plectin							8	10	10					8																	144997698		1961	4043	6004	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997698C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6810G>A	8.37:g.144997698C>T						PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000436759.2_Silent_p.A2160A	p.A2270A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6979	-			2270			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6810G>A	CCDS43772.1																																																																																				0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		28	131	0	0	0	1	0	28	131					T	144997698	C	T	144997698	2	4	79	1	0	0	0	0	0	0	0	1	12094	639	23	1		1	PLEC	8	144997698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	144997698	1366324	9786	20103											
PLEC	5339	broad.mit.edu	37	chr8	145001678	145001678	+	Frame_Shift_Del	DEL	A	A	-													cgtcctgcagccaggcgcccAaggggtctgcactctcgcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1356	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGGCGCCCAAGGGGTCTGC	0.721																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4066-4068)tgfs		plectin							9	10	10					8																	145001678		1898	3994	5892	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001678delA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4067delT	8.37:g.145001678delA	ENSP00000323856:p.Leu1356fs					PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs	p.L1356fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4236	-			1356			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.4067delT	CCDS43772.1																																																																																				0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		32	162						32	162	---	---	---	---	-	145001678	A	-	145001678	7	5	79	1	0	1	0	1	0	0	0	0	12094	131	5	0	10011	0	PLEC	8	145001678	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	3980	145001678	1362344	9787	20104											
PLEC	5339	broad.mit.edu	37	chr8	145004326	145004326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccacctggtgacggcctcCtgggcctcctggttgggcgg	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	ENST00000322810.4	-	21	3178	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1003	Globular 1.		Missing (in MD-EBS). {ECO:0000269|PubMed:8894687}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACGGCCTCCTGGGCCTCCT	0.726																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3007-3009)caG>caT		plectin							6	8	7					8																	145004326		1962	4065	6027	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145004326C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3009G>T	8.37:g.145004326C>A	ENSP00000323856:p.Gln1003His					PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H	p.Q1003H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			21	3178	-			1003		Missing (in MD-EBS).	Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3009G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380272	0.24944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.99	4.12	0.48240	.	0.565461	0.15487	U	0.259768	T	0.45994	0.1370	N	0.22421	0.69	0.40742	D	0.98284	B;B;B;B;B;B;P;B	0.36392	0.253;0.253;0.253;0.164;0.253;0.253;0.551;0.253	B;B;B;B;B;B;B;B	0.28709	0.093;0.093;0.093;0.043;0.093;0.093;0.093;0.093	T	0.50516	-0.8819	10	0.72032	D	0.01	.	12.9958	0.58646	0.0:0.9202:0.0:0.0798	.	893;852;844;1003;834;866;870;866	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	866;870;866;834;1003;844;852;893;889	ENSP00000344848:Q866H;ENSP00000350277:Q870H;ENSP00000346602:Q866H;ENSP00000381756:Q834H;ENSP00000323856:Q1003H;ENSP00000347044:Q844H;ENSP00000348702:Q852H;ENSP00000388180:Q893H;ENSP00000434583:Q889H	ENSP00000323856:Q1003H	Q	-	3	2	PLEC	145076314	0.931000	0.31567	1.000000	0.80357	0.244000	0.25665	1.149000	0.31626	1.098000	0.41479	0.453000	0.30009	CAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	42	1	0	1.5842e-08	1	1.65642e-08	14	42					A	145004326	C	A	145004326	3	1	79	1	0	0	0	0	1	0	0	0	12094	680	24	3	11093	3	PLEC	8	145004326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2648	145004326	1359696	9788	20105											
PLEC	5339	broad.mit.edu	37	chr8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccatccacacggtgcTggttctcctccacccaggcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	673	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACACGGTGCTGGTTCTCCTC	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2017-2019)cAg>cCg		plectin							23	27	26					8																	145007091		2071	4208	6279	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007091T>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2018A>C	8.37:g.145007091T>G	ENSP00000323856:p.Gln673Pro					PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P	p.Q673P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2187	-			673			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2018A>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665375	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000011	D	0.96605	0.8892	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97195	0.9860	10	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.0:1.0	.	563;522;514;673;504;536;540;536	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	536;540;536;504;673;514;522;563;559;580	ENSP00000344848:Q536P;ENSP00000350277:Q540P;ENSP00000346602:Q536P;ENSP00000381756:Q504P;ENSP00000323856:Q673P;ENSP00000347044:Q514P;ENSP00000348702:Q522P;ENSP00000388180:Q563P;ENSP00000434583:Q559P;ENSP00000437303:Q580P	ENSP00000323856:Q673P	Q	-	2	0	PLEC	145079079	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.587000	0.67510	1.936000	0.56123	0.523000	0.50628	CAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		34	153	0	0	0	1	0	34	153					G	145007091	T	G	145007091	3	3	79	1	0	0	0	0	1	0	0	0	12094	1580	55	4	12112	4	PLEC	8	145007091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2765	145007091	1356931	9789	20106											
PLEC	5339	broad.mit.edu	37	chr8	145007511	145007511	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttgcctgcagccagcagCcggacatcctgcaaggtcgt	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000354958.2_Silent_p.R402R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	561	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCAGCAGCCGGACATCCT	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1681-1683)cgG>cgT		plectin							60	67	65					8																	145007511		2126	4232	6358	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007511C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1683G>T	8.37:g.145007511C>A						PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000436759.2_Silent_p.R451R	p.R561R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			13	1852	-			561			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.1683G>T	CCDS43772.1																																																																																				0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		63	307	1	0	5.80444e-35	1	6.91851e-35	63	307					A	145007511	C	A	145007511	2	1	79	1	0	0	0	0	0	0	0	1	12094	726	26	3		3	PLEC	8	145007511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420	145007511	1356511	9790	20107											
PLEC	5339	broad.mit.edu	37	chr8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcttctcccgctccaGgatggccacgtgcagcttgc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	515	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCGCTCCAGGATGGCCACG	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1543-1545)Ctg>Atg		plectin							37	42	40					8																	145008523		2081	4195	6276	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145008523G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1543C>A	8.37:g.145008523G>T	ENSP00000323856:p.Leu515Met					PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M	p.L515M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			11	1712	-			515			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1543C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.891959	0.52014	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	.	0.000000	0.46758	U	0.000264	D	0.96540	0.8871	M	0.75777	2.31	0.52099	D	0.999946	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.96942	0.9688	10	0.87932	D	0	.	17.9524	0.89057	0.0:0.0:1.0:0.0	.	405;364;356;515;346;378;382;378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	378;382;378;346;515;356;364;405;401;422	ENSP00000344848:L378M;ENSP00000350277:L382M;ENSP00000346602:L378M;ENSP00000381756:L346M;ENSP00000323856:L515M;ENSP00000347044:L356M;ENSP00000348702:L364M;ENSP00000388180:L405M;ENSP00000434583:L401M;ENSP00000437303:L422M	ENSP00000323856:L515M	L	-	1	2	PLEC	145080511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.542000	0.85734	0.645000	0.84053	CTG		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		52	248	1	0	6.4308e-24	1	7.32928e-24	52	248					T	145008523	G	T	145008523	3	4	79	1	0	0	0	0	1	0	0	0	12094	991	35	3	12599	3	PLEC	8	145008523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1012	145008523	1355499	9791	20108											
PLEC	5339	broad.mit.edu	37	chr8	145024727	145024727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggacgccatggcacGcatgacctgcaggttggtga	15	12	0	2	rs371156105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	ENST00000322810.4	-	1	317	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	50	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCATGGCACGCATGACCTGC	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(148-150)Cgt>Tgt		plectin		G	,,,CYS/ARG	0,4160		0,0,2080	19	26	24		,,,148	0.9	0.5	8		24	2,8388		0,2,4193	no	intron,intron,intron,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2	,,,180	0,2,6273	AA,AG,GG		0.0238,0.0,0.0159	,,,benign	,,,50/4685	145024727	2,12548	2080	4195	6275	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024727G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.148C>T	8.37:g.145024727G>A	ENSP00000323856:p.Arg50Cys					PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron	p.R50C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	317	-			50			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.148C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	9.296	1.051834	0.19827	0.0	2.38E-4	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	0.952	0.19584	Plectin/S10, N-terminal (1);	0.000000	0.43260	U	0.000591	T	0.51041	0.1651	N	0.04508	-0.205	0.32630	N	0.522118	B	0.19935	0.04	B	0.16289	0.015	T	0.46582	-0.9181	10	0.87932	D	0	.	4.7403	0.13010	0.1569:0.0:0.4131:0.4299	.	50	Q15149	PLEC_HUMAN	C	50	ENSP00000323856:R50C	ENSP00000323856:R50C	R	-	1	0	PLEC	145096715	0.003000	0.15002	0.502000	0.27614	0.510000	0.34073	0.452000	0.21795	-0.126000	0.11682	-1.008000	0.02478	CGT		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	79	0	0	0	1	0	8	79					A	145024727	G	A	145024727	3	1	79	1	0	0	0	0	1	0	0	0	12094	1087	38	1	14414	1	PLEC	8	145024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16204	145024727	1339295	9792	20109											
PLEC	5339	broad.mit.edu	37	chr8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatgggggtgcaagctgCggggccgccggtccttcttg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCAAGCTGCGGGGCCGCCG	0.692																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(100-102)cGc>cAc		plectin							11	15	14					8																	145024774		2075	4178	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024774C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.101G>A	8.37:g.145024774C>T	ENSP00000323856:p.Arg34His					PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron	p.R34H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	270	-			34			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.101G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986930	0.35036	.	.	ENSG00000178209	ENST00000322810	T	0.76578	-1.03	4.9	1.53	0.23141	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.57169	0.2035	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.50668	-0.8801	10	0.72032	D	0.01	.	2.9172	0.05756	0.0:0.4038:0.2297:0.3665	.	34	Q15149	PLEC_HUMAN	H	34	ENSP00000323856:R34H	ENSP00000323856:R34H	R	-	2	0	PLEC	145096762	0.998000	0.40836	0.972000	0.41901	0.380000	0.30137	1.319000	0.33655	0.455000	0.26910	0.563000	0.77884	CGC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	72	0	0	0	1	0	13	72					T	145024774	C	T	145024774	3	4	79	1	0	0	0	0	1	0	0	0	12094	768	27	1	14461	1	PLEC	8	145024774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	145024774	1339248	9793	20110											
PARP10	84875	broad.mit.edu	37	chr8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtccccccatctgggggctCttctgcctccaacgggggct	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000313028.7	-	8	2183	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	697	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2089-2091)Gag>Tag		poly (ADP-ribose) polymerase family, member 10							12	13	13					8																	145057668		2198	4295	6493	SO:0001587	stop_gained	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057668C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2089G>T	8.37:g.145057668C>A	ENSP00000325618:p.Glu697*					PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	p.E697*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2183	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		697			Glu-rich.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	ENST00000313028.7	37	c.2089G>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675280	0.67928	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.04	2.14	0.27477	.	0.750699	0.11574	N	0.550478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.8845	0.13696	0.0:0.6573:0.2226:0.1201	.	.	.	.	X	688;403;697;709	.	ENSP00000325618:E697X	E	-	1	0	PARP10	145129656	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	0.905000	0.28504	1.011000	0.39340	0.639000	0.83563	GAG		0.667	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		19	60	1	0	1.45105e-14	1	1.57787e-14	19	60					A	145057668	C	A	145057668	4	1	79	1	0	0	0	0	0	1	0	0	11497	922	32	3	1004	3	PARP10	8	145057668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32894	145057668	1306354	9794	20111											
SPATC1	375686	broad.mit.edu	37	chr8	145095869	145095869	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaacgcccactccccAcctcgtacctcatcctcccc	2	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	389						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1165-1167)ccA>ccG		spermatogenesis and centriole associated 1							222	96	139					8																	145095869		2202	4299	6501	SO:0001819	synonymous_variant	375686							g.chr8:145095869A>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1167A>G	8.37:g.145095869A>G						SPATC1_ENST00000447830.2_Silent_p.P389P	p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1269	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		389					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.1167A>G	CCDS6413.2																																																																																				0.612	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		73	334	0	0	0	1	0	73	334					G	145095869	A	G	145095869	2	3	79	1	0	0	0	0	0	0	0	1	15069	146	6	4		4	SPATC1	8	145095869	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38201	145095869	1268153	9795	20112											
OPLAH	26873	broad.mit.edu	37	chr8	145109470	145109470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactcccactcaccctcctCctggaagacgcccccctgga	6	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	ENST00000426825.1	-	19	2761	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	894					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACCCTCCTCCTGGAAGACG	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2680-2682)Gag>Aag		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						32	36	35					8																	145109470		1992	4160	6152	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109470C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2680G>A	8.37:g.145109470C>T	ENSP00000475943:p.Glu894Lys					OPLAH_ENST00000534424.1_5'UTR	p.E894K	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2761	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		894					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	C	14.78	2.637608	0.47049	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	.	.	.	0.53688	D	0.999972	D	0.76494	0.999	D	0.69479	0.964	T	0.83160	-0.0099	7	0.87932	D	0	.	15.9917	0.80211	0.0:1.0:0.0:0.0	.	894	O14841	OPLA_HUMAN	K	894	.	ENSP00000412071:E894K	E	-	1	0	OPLAH	145181458	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.021000	0.76425	2.387000	0.81309	0.563000	0.77884	GAG		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		23	102	0	0	0	1	0	23	102					T	145109470	C	T	145109470	3	4	79	1	0	0	0	0	1	0	0	0	10918	864	30	2	1224	2	OPLAH	8	145109470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13601	145109470	1254552	9796	20113											
OPLAH	26873	broad.mit.edu	37	chr8	145111082	145111082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgaggcagggcccatgGagcttgtgcccatagcccag	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	ENST00000426825.1	-	15	2145	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	688					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGCCCATGGAGCTTGTGCC	0.642																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2062-2064)ctC>ctT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						60	66	64					8																	145111082		2010	4165	6175	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145111082G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2064C>T	8.37:g.145111082G>A						OPLAH_ENST00000534424.1_5'UTR	p.L688L	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2145	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		688					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.2064C>T																																																																																					0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		60	299	0	0	0	1	0	60	299					A	145111082	G	A	145111082	2	1	79	1	0	0	0	0	0	0	0	1	10918	1161	41	2		2	OPLAH	8	145111082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1612	145111082	1252940	9797	20114											
OPLAH	26873	broad.mit.edu	37	chr8	145112597	145112597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaccagattagcatcCgtcactgtcacagggccccc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	ENST00000426825.1	-	10	1257	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	392					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATTAGCATCCGTCACTGTCA	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1174-1176)acG>acA		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						18	22	20					8																	145112597		2007	4142	6149	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112597C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1176G>A	8.37:g.145112597C>T						OPLAH_ENST00000534424.1_5'UTR	p.T392T	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	1257	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		392					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.1176G>A																																																																																					0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		18	160	0	0	0	1	0	18	160					T	145112597	C	T	145112597	2	4	79	1	0	0	0	0	0	0	0	1	10918	639	23	1		1	OPLAH	8	145112597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1515	145112597	1251425	9798	20115											
OPLAH	26873	broad.mit.edu	37	chr8	145114642	145114642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccatgcggatgctggCgatatgactggagtccagcg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	ENST00000426825.1	-	3	304	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	75					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGATGCTGGCGATATGACTG	0.687																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(223-225)Gcc>Acc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						26	33	30					8																	145114642		2171	4254	6425	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145114642C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.223G>A	8.37:g.145114642C>T	ENSP00000475943:p.Ala75Thr					OPLAH_ENST00000534424.1_5'UTR	p.A75T	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	304	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		75					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.223G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850511	0.32699	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.111520	0.64402	D	0.000012	T	0.50137	0.1598	.	.	.	0.28467	N	0.915628	P	0.35192	0.489	B	0.31495	0.131	T	0.63129	-0.6706	7	0.48119	T	0.1	.	16.3018	0.82820	0.0:1.0:0.0:0.0	.	75	O14841	OPLA_HUMAN	T	75	.	ENSP00000412071:A75T	A	-	1	0	OPLAH	145186630	1.000000	0.71417	0.950000	0.38849	0.271000	0.26615	5.497000	0.66924	2.450000	0.82876	0.462000	0.41574	GCC		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		35	148	0	0	0	1	0	35	148					T	145114642	C	T	145114642	3	4	79	1	0	0	0	0	1	0	0	0	10918	768	27	1	3745	1	OPLAH	8	145114642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2045	145114642	1249380	9799	20116											
OPLAH	26873	broad.mit.edu	37	chr8	145114814	145114814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgtccgcatagttgGcagggtcctctgagagcagt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	ENST00000426825.1	-	2	203	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	41					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCATAGTTGGCAGGGTCCTC	0.657																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(121-123)gCc>gAc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						38	44	42					8																	145114814		1959	4125	6084	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145114814G>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.122C>A	8.37:g.145114814G>T	ENSP00000475943:p.Ala41Asp					OPLAH_ENST00000534424.1_5'UTR	p.A41D	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	203	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		41					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.122C>A		.	.	.	.	.	.	.	.	.	.	G	10.10	1.257038	0.22965	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.110427	0.64402	D	0.000008	T	0.60805	0.2297	.	.	.	0.40538	D	0.980995	P	0.38473	0.633	P	0.49853	0.624	T	0.57476	-0.7805	7	0.15952	T	0.53	.	16.3018	0.82820	0.0:0.0:1.0:0.0	.	41	O14841	OPLA_HUMAN	D	41	.	ENSP00000412071:A41D	A	-	2	0	OPLAH	145186802	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.875000	0.69660	2.450000	0.82876	0.462000	0.41574	GCC		0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		52	254	1	0	3.07002e-29	1	3.58444e-29	52	254					T	145114814	G	T	145114814	3	4	79	1	0	0	0	0	1	0	0	0	10918	1203	42	3	3850	3	OPLAH	8	145114814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172	145114814	1249208	9800	20117											
CYC1	1537	broad.mit.edu	37	chr8	145151980	145151980	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagccaaggatgtgtgcacCttcctgcgctgggcatctga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	272					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572																																						ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(814-816)acC>acA		cytochrome c-1							80	53	62					8																	145151980		2201	4300	6501	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151980C>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.816C>A	8.37:g.145151980C>A							p.T272T	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	889	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		272					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.816C>A	CCDS6415.1																																																																																				0.572	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		12	47	1	0	5.16669e-11	1	5.49905e-11	12	47					A	145151980	C	A	145151980	2	1	79	1	0	0	0	0	0	0	0	1	4146	668	24	3		3	CYC1	8	145151980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37166	145151980	1212042	9801	20118											
HEATR7A	727957	broad.mit.edu	37	chr8	145235357	145235357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccccttcctgccatccGtcctgagctccctgctgccc	7	20	0	1	rs185394696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145235357G>A	ENST00000528919.1	+	6	614	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MROH1_ENST00000423230.2_Missense_Mutation_p.V165I|MROH1_ENST00000398656.4_Missense_Mutation_p.V165I|MROH1_ENST00000326134.5_Missense_Mutation_p.V165I|MROH1_ENST00000534366.1_Missense_Mutation_p.V165I	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	165								p.V165I(1)									CCTGCCATCCGTCCTGAGCTC	0.677																																						ENST00000528919.1																			1	Substitution - Missense(1)	p.V165I(1)	endometrium(1)								c.(493-495)Gtc>Atc		maestro heat-like repeat family member 1		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4353		0,1,2176	89	94	92		493,493,493	2.8	1	8		92	0,8500		0,0,4250	no	missense,missense,missense	HEATR7A	NM_001099280.1,NM_001099281.1,NM_032450.2	29,29,29	0,1,6426	AA,AG,GG		0.0,0.023,0.0078	benign,benign,benign	165/423,165/423,165/1642	145235357	1,12853	2177	4250	6427	SO:0001583	missense	727957							g.chr8:145235357G>A		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.493G>A	8.37:g.145235357G>A	ENSP00000435565:p.Val165Ile					MROH1_ENST00000398656.4_Missense_Mutation_p.V165I|MROH1_ENST00000326134.5_Missense_Mutation_p.V165I|MROH1_ENST00000534366.1_Missense_Mutation_p.V165I|MROH1_ENST00000423230.2_Missense_Mutation_p.V165I	p.V165I	NM_032450.2	NP_115826.2					6	614	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.493G>A	CCDS47938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.000	-0.206197	0.06180	2.3E-4	0.0	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.62498	3.3;0.02;0.02;0.02;0.02	5.42	2.85	0.33270	Armadillo-type fold (1);	0.157571	0.38164	N	0.001795	T	0.19046	0.0457	N	0.00275	-1.725	0.80722	D	1	B;B;B;B;B	0.22746	0.001;0.0;0.0;0.004;0.074	B;B;B;B;B	0.15484	0.003;0.0;0.0;0.012;0.013	T	0.35500	-0.9786	10	0.02654	T	1	.	8.4312	0.32759	0.8335:0.0:0.1665:0.0	.	165;165;165;165;165	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	165;165;165;165;165;97	ENSP00000388174:V165I;ENSP00000381649:V165I;ENSP00000436636:V165I;ENSP00000435565:V165I;ENSP00000321737:V165I	ENSP00000321737:V165I	V	+	1	0	HEATR7A	145307345	0.997000	0.39634	0.998000	0.56505	0.282000	0.26991	1.985000	0.40668	0.434000	0.26340	-0.459000	0.05422	GTC		0.677	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		65	305	0	0	0	1	0	65	305					A	145235357	G	A	145235357	3	1	79	1	0	0	0	0	1	0	0	0	7064	1145	40	1	511	1	HEATR7A	8	145235357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83377	145235357	1128665	9802	20119											
HSF1	3297	broad.mit.edu	37	chr8	145533580	145533580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagctcctggccatgaaGcagtaggtcccacaccagca	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000528838.1	+	4	646	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_ENST00000400780.4_Silent_p.K97K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(484-486)aaG>aaA		heat shock transcription factor 1							61	63	62					8																	145533580		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533580G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.486G>A	8.37:g.145533580G>A						HSF1_ENST00000400780.4_Silent_p.K97K	p.K162K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		4	646	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		162			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.486G>A	CCDS6419.1																																																																																				0.647	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		33	173	0	0	0	1	0	33	173					A	145533580	G	A	145533580	2	1	79	1	0	0	0	0	0	0	0	1	7425	962	34	2		2	HSF1	8	145533580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	298223	145533580	830442	9803	20120											
DGAT1	8694	broad.mit.edu	37	chr8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacagaggtcctcaccgCggtaggtcagattgtccggg	14	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DGAT1_ENST00000531896.1_Silent_p.P280P|DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	250					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(748-750)cGc>cAc		diacylglycerol O-acyltransferase 1							57	60	59					8																	145541760		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541760C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.749G>A	8.37:g.145541760C>T	ENSP00000332258:p.Arg250His					DGAT1_ENST00000531896.1_Silent_p.P280P	p.R250H	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1022	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		250					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.749G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214885	0.39102	.	.	ENSG00000185000	ENST00000332324	T	0.73047	-0.71	4.68	1.75	0.24633	.	0.442530	0.22651	N	0.057328	T	0.67841	0.2936	L	0.52364	1.645	0.47123	D	0.999321	D	0.55605	0.972	P	0.51833	0.681	T	0.64424	-0.6411	10	0.46703	T	0.11	-5.946	6.3125	0.21173	0.0:0.6649:0.1536:0.1815	.	250	O75907	DGAT1_HUMAN	H	250	ENSP00000332258:R250H	ENSP00000332258:R250H	R	-	2	0	DGAT1	145512568	0.152000	0.22762	0.078000	0.20375	0.589000	0.36550	0.550000	0.23345	0.554000	0.29061	0.484000	0.47621	CGC		0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		52	323	0	0	0	1	0	52	323					T	145541760	C	T	145541760	3	4	79	1	0	0	0	0	1	0	0	0	4473	768	27	1	757	1	DGAT1	8	145541760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8180	145541760	822262	9804	20121											
DGAT1	8694	broad.mit.edu	37	chr8	145542724	145542724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaataaccgggcattgCtcaagatctgcgagggatgg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	ENST00000332324.4	-	3	569	c.296G>A	c.(295-297)aGc>aAc	p.S99N	DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	99					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGGGCATTGCTCAAGATCTG	0.632																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(295-297)aGc>aAc		diacylglycerol O-acyltransferase 1							53	40	45					8																	145542724		2163	4255	6418	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145542724C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.296G>A	8.37:g.145542724C>T	ENSP00000332258:p.Ser99Asn					DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N	p.S99N	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	569	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		99					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.296G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.521504	0.85600	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T;T	0.30981	1.51;1.51	5.32	4.38	0.52667	.	0.097011	0.64402	D	0.000002	T	0.55000	0.1893	M	0.81497	2.545	0.42564	D	0.993158	D;D	0.89917	1.0;0.998	D;D	0.76071	0.987;0.931	T	0.58025	-0.7709	10	0.49607	T	0.09	-18.8333	12.4498	0.55671	0.1683:0.8317:0.0:0.0	.	99;99	E9PS80;O75907	.;DGAT1_HUMAN	N	99	ENSP00000332258:S99N;ENSP00000432795:S99N	ENSP00000332258:S99N	S	-	2	0	DGAT1	145513532	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.314000	0.51943	2.504000	0.84457	0.556000	0.70494	AGC		0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		3	18	0	0	0	1	0	3	18					T	145542724	C	T	145542724	3	4	79	1	0	0	0	0	1	0	0	0	4473	797	28	2	1230	2	DGAT1	8	145542724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	145542724	821298	9805	20122											
GPR172A	79581	broad.mit.edu	37	chr8	145583404	145583404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtccccatccgggtggtGcaggtgctgggcatggtggg	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583404G>A	ENST00000532887.1	+	3	835	c.252G>A	c.(250-252)gtG>gtA	p.V84V	SLC52A2_ENST00000329994.2_Silent_p.V84V|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.V84V|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Silent_p.V84V|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000527078.1_Silent_p.V84V|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_5'UTR			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	84					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCCGGGTGGTGCAGGTGCTGG	0.642																																						ENST00000532887.1																			0											c.(250-252)gtG>gtA		solute carrier family 52 (riboflavin transporter), member 2							104	102	103					8																	145583404		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583404G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.252G>A	8.37:g.145583404G>A						SLC52A2_ENST00000402965.1_Silent_p.V84V|SLC52A2_ENST00000329994.2_Silent_p.V84V|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000527078.1_Silent_p.V84V|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.V84V	p.V84V			Q9HAB3	RFT3_HUMAN			3	835	+			84					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.252G>A	CCDS6423.1																																																																																				0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		98	488	0	0	0	1	0	98	488					A	145583404	G	A	145583404	2	1	79	1	0	0	0	0	0	0	0	1	6698	1306	46	2		2	GPR172A	8	145583404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40680	145583404	780618	9806	20123											
GPR172A	79581	broad.mit.edu	37	chr8	145583671	145583671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccgcctcgagtgcccGccagcccccatcaacggcac	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583671G>A	ENST00000532887.1	+	3	1102	c.519G>A	c.(517-519)ccG>ccA	p.P173P	SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.P173P|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Silent_p.P173P|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000527078.1_Silent_p.P173P|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Silent_p.P85P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	173					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCGAGTGCCCGCCAGCCCCCA	0.657																																						ENST00000532887.1																			0											c.(517-519)ccG>ccA		solute carrier family 52 (riboflavin transporter), member 2							54	62	59					8																	145583671		2203	4299	6502	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583671G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.519G>A	8.37:g.145583671G>A						SLC52A2_ENST00000402965.1_Silent_p.P173P|SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000527078.1_Silent_p.P173P|SLC52A2_ENST00000540505.1_Silent_p.P85P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.P173P	p.P173P			Q9HAB3	RFT3_HUMAN			3	1102	+			173					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.519G>A	CCDS6423.1																																																																																				0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		156	572	0	0	0	1	0	156	572					A	145583671	G	A	145583671	2	1	79	1	0	0	0	0	0	0	0	1	6698	1074	38	1		1	GPR172A	8	145583671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267	145583671	780351	9807	20124											
GPR172A	79581	broad.mit.edu	37	chr8	145584110	145584110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgctgggcagtgctGccaatcccctggcctgcttc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584110G>A	ENST00000532887.1	+	3	1541	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	SLC52A2_ENST00000329994.2_Missense_Mutation_p.A320T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A320T|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A320T|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A232T			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	320					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGGCAGTGCTGCCAATCCCCT	0.657																																						ENST00000532887.1																			0											c.(958-960)Gcc>Acc		solute carrier family 52 (riboflavin transporter), member 2							76	73	74					8																	145584110		2200	4293	6493	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584110G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.958G>A	8.37:g.145584110G>A	ENSP00000436768:p.Ala320Thr					SLC52A2_ENST00000402965.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A320T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A232T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A320T	p.A320T			Q9HAB3	RFT3_HUMAN			3	1541	+			320					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.958G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202481	0.79127	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.69	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.77103	2.36	0.80722	D	1	B	0.30193	0.272	B	0.38842	0.283	T	0.81226	-0.1029	10	0.52906	T	0.07	.	11.9871	0.53153	0.0:0.0:0.827:0.173	.	320	Q9HAB3	RFT3_HUMAN	T	320;320;156;320;320;320;232	ENSP00000435820:A320T;ENSP00000434728:A320T;ENSP00000433583:A156T;ENSP00000385961:A320T;ENSP00000436768:A320T;ENSP00000333638:A320T;ENSP00000440400:A232T	ENSP00000333638:A320T	A	+	1	0	GPR172A	145554918	1.000000	0.71417	0.920000	0.36463	0.992000	0.81027	5.483000	0.66838	2.152000	0.67230	0.462000	0.41574	GCC		0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		116	567	0	0	0	1	0	116	567					A	145584110	G	A	145584110	3	1	79	1	0	0	0	0	1	0	0	0	6698	1319	46	2	964	2	GPR172A	8	145584110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	439	145584110	779912	9808	20125											
GPR172A	79581	broad.mit.edu	37	chr8	145584275	145584275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggctgggcggcctcTctctgctgggcgtgttctgt	17	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584275T>C	ENST00000532887.1	+	4	1610	c.1027T>C	c.(1027-1029)Tct>Cct	p.S343P	SLC52A2_ENST00000329994.2_Missense_Mutation_p.S343P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S343P|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S343P|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S255P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	343					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGGCGGCCTCTCTCTGCTGGG	0.697																																						ENST00000532887.1																			0											c.(1027-1029)Tct>Cct		solute carrier family 52 (riboflavin transporter), member 2							55	62	59					8																	145584275		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584275T>C	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1027T>C	8.37:g.145584275T>C	ENSP00000436768:p.Ser343Pro					SLC52A2_ENST00000402965.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S343P|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S255P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S343P	p.S343P			Q9HAB3	RFT3_HUMAN			4	1610	+			343					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1027T>C	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178639	0.38511	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.69	2.03	0.26663	.	0.445806	0.24615	N	0.037015	T	0.78704	0.4325	M	0.75615	2.305	0.09310	N	0.999997	P	0.51933	0.949	P	0.53102	0.718	T	0.69924	-0.5013	10	0.66056	D	0.02	.	9.3756	0.38281	0.0:0.0:0.3446:0.6553	.	343	Q9HAB3	RFT3_HUMAN	P	343;343;343;343;343;255	ENSP00000435820:S343P;ENSP00000434728:S343P;ENSP00000385961:S343P;ENSP00000436768:S343P;ENSP00000333638:S343P;ENSP00000440400:S255P	ENSP00000333638:S343P	S	+	1	0	GPR172A	145555083	0.019000	0.18553	0.004000	0.12327	0.402000	0.30811	0.298000	0.19120	0.616000	0.30141	0.379000	0.24179	TCT		0.697	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		122	443	0	0	0	1	0	122	443					C	145584275	T	C	145584275	3	2	79	1	0	0	0	0	1	0	0	0	6698	1551	54	4	1037	4	GPR172A	8	145584275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165	145584275	779747	9809	20126											
GPR172A	79581	broad.mit.edu	37	chr8	145584484	145584484	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgtcgtgggtgctgtgtCttggcgtgttctcctacgtg	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584484C>A	ENST00000532887.1	+	5	1730	c.1147C>A	c.(1147-1149)Ctt>Att	p.L383I	SLC52A2_ENST00000329994.2_Missense_Mutation_p.L383I|SLC52A2_ENST00000526752.1_Missense_Mutation_p.S51Y|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L383I|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L383I|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L295I			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	383					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGTGCTGTGTCTTGGCGTGTT	0.682																																						ENST00000532887.1																			0											c.(1147-1149)Ctt>Att		solute carrier family 52 (riboflavin transporter), member 2							111	85	94					8																	145584484		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584484C>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1147C>A	8.37:g.145584484C>A	ENSP00000436768:p.Leu383Ile					SLC52A2_ENST00000402965.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L383I|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L295I|SLC52A2_ENST00000526752.1_Missense_Mutation_p.S51Y|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L383I	p.L383I			Q9HAB3	RFT3_HUMAN			5	1730	+			383					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1147C>A	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.533|7.533	0.659103|0.659103	0.14645|0.14645	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505|ENST00000526752	T;T;T;T;T;T|D	0.74315|0.90004	-0.83;-0.83;-0.83;-0.83;-0.83;-0.59|-2.6	5.25|5.25	0.202|0.202	0.15190|0.15190	.|.	0.667263|.	0.14238|.	N|.	0.332251|.	T|T	0.77785|0.77785	0.4182|0.4182	N|N	0.16567|0.16567	0.415|0.415	0.21290|0.21290	N|N	0.999731|0.999731	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.67868|0.67868	-0.5559|-0.5559	10|7	0.18710|0.87932	T|D	0.47|0	.|.	1.7425|1.7425	0.02955|0.02955	0.1258:0.4413:0.1607:0.2723|0.1258:0.4413:0.1607:0.2723	.|.	383|.	Q9HAB3|.	RFT3_HUMAN|.	I|Y	383;383;383;383;383;295|51	ENSP00000435820:L383I;ENSP00000434728:L383I;ENSP00000385961:L383I;ENSP00000436768:L383I;ENSP00000333638:L383I;ENSP00000440400:L295I|ENSP00000433796:S51Y	ENSP00000333638:L383I|ENSP00000433796:S51Y	L|S	+|+	1|2	0|0	GPR172A|GPR172A	145555292|145555292	0.027000|0.027000	0.19231|0.19231	0.021000|0.021000	0.16686|0.16686	0.916000|0.916000	0.54674|0.54674	0.373000|0.373000	0.20484|0.20484	-0.265000|-0.265000	0.09352|0.09352	0.456000|0.456000	0.33151|0.33151	CTT|TCT		0.682	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		40	402	1	0	3.38236e-24	1	3.86174e-24	40	402					A	145584484	C	A	145584484	3	1	79	1	0	0	0	0	1	0	0	0	6698	913	32	3	1161	3	GPR172A	8	145584484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	145584484	779538	9810	20127											
CPSF1	29894	broad.mit.edu	37	chr8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcatgcgtgggatgcGggcacacggcgtgttggtgc	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1046					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3136-3138)Cgc>Tgc		cleavage and polyadenylation specific factor 1, 160kDa							59	58	58					8																	145620531		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620531G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3136C>T	8.37:g.145620531G>A	ENSP00000339353:p.Arg1046Cys						p.R1046C	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		28	3230	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1046					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3136C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	4.54	3.63	0.41609	.	0.122857	0.52532	D	0.000061	T	0.53400	0.1794	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.53244	-0.8466	10	0.48119	T	0.1	-10.8279	11.225	0.48877	0.0:0.0:0.8083:0.1917	.	1046	Q10570	CPSF1_HUMAN	C	1046	ENSP00000339353:R1046C	ENSP00000339353:R1046C	R	-	1	0	CPSF1	145591339	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	5.773000	0.68898	1.069000	0.40788	0.561000	0.74099	CGC		0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		39	142	0	0	0	1	0	39	142					A	145620531	G	A	145620531	3	1	79	1	0	0	0	0	1	0	0	0	3833	1116	39	1	1239	1	CPSF1	8	145620531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36047	145620531	743491	9811	20128											
CPSF1	29894	broad.mit.edu	37	chr8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggtgtccagctccatgatCtcctgccccgtctgcaggat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	591					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1771-1773)gaG>gaT		cleavage and polyadenylation specific factor 1, 160kDa							83	89	87					8																	145623813		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623813C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1773G>T	8.37:g.145623813C>A	ENSP00000339353:p.Glu591Asp						p.E591D	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		19	1867	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		591					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1773G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419153	0.83559	.	.	ENSG00000071894	ENST00000349769	T	0.54675	0.56	5.65	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49350	1.555	0.53005	D	0.999964	P	0.47604	0.898	P	0.53722	0.733	T	0.48115	-0.9063	10	0.30854	T	0.27	-9.2522	7.7805	0.29062	0.0:0.7454:0.0:0.2546	.	591	Q10570	CPSF1_HUMAN	D	591	ENSP00000339353:E591D	ENSP00000339353:E591D	E	-	3	2	CPSF1	145594621	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.540000	0.45727	0.742000	0.32697	0.655000	0.94253	GAG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		78	753	1	0	2.1672e-28	1	2.52168e-28	78	753					A	145623813	C	A	145623813	3	1	79	1	0	0	0	0	1	0	0	0	3833	912	32	3	2638	3	CPSF1	8	145623813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3282	145623813	740209	9812	20129											
CPSF1	29894	broad.mit.edu	37	chr8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgttcagtgagatggCcacaatggagcacgtgtcct	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	242					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(724-726)Gcc>Tcc		cleavage and polyadenylation specific factor 1, 160kDa							103	100	101					8																	145625850		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145625850C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.724G>T	8.37:g.145625850C>A	ENSP00000339353:p.Ala242Ser						p.A242S	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		8	818	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		242					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.724G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167240	0.94768	.	.	ENSG00000071894	ENST00000349769	T	0.24350	1.86	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.991;0.994;0.988	T	0.61618	-0.7026	10	0.66056	D	0.02	-15.0396	17.2687	0.87095	0.0:1.0:0.0:0.0	.	242;164;242	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	242	ENSP00000339353:A242S	ENSP00000339353:A242S	A	-	1	0	CPSF1	145596658	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.771000	0.55318	2.686000	0.91538	0.650000	0.86243	GCC		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		79	443	1	0	3.24273e-39	1	3.91873e-39	79	443					A	145625850	C	A	145625850	3	1	79	1	0	0	0	0	1	0	0	0	3833	739	26	3	3731	3	CPSF1	8	145625850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	145625850	738172	9813	20130											
SLC39A4	55630	broad.mit.edu	37	chr8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcgtggcagaacacggCcagcgaggtggccagcccgg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000301305.3	-	10	1699	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC39A4_ENST00000276833.5_Missense_Mutation_p.A507T|SLC39A4_ENST00000531013.1_5'UTR	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	532					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGAACACGGCCAGCGAGGTG	0.711																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1519-1521)Gcc>Acc		solute carrier family 39 (zinc transporter), member 4							8	11	10					8																	145638654		2159	4234	6393	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638654C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1594G>A	8.37:g.145638654C>T	ENSP00000301305:p.Ala532Thr					SLC39A4_ENST00000301305.3_Missense_Mutation_p.A532T|SLC39A4_ENST00000531013.1_5'UTR	p.A507T	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		9	1822	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		532					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1519G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018510	0.97205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.68331	-0.32;-0.32	4.62	4.62	0.57501	.	0.053289	0.85682	D	0.000000	T	0.79919	0.4529	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82608	-0.0373	10	0.87932	D	0	-24.9186	14.9999	0.71464	0.0:1.0:0.0:0.0	.	532;507;532	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	T	507;532	ENSP00000276833:A507T;ENSP00000301305:A532T	ENSP00000276833:A507T	A	-	1	0	SLC39A4	145609462	1.000000	0.71417	0.992000	0.48379	0.872000	0.50106	5.674000	0.68117	2.126000	0.65437	0.456000	0.33151	GCC		0.711	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			9	58	0	0	0	1	0	9	58					T	145638654	C	T	145638654	3	4	79	1	0	0	0	0	1	0	0	0	14670	739	26	2	361	2	SLC39A4	8	145638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	145638654	725368	9814	20131											
SLC39A4	55630	broad.mit.edu	37	chr8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacggggggcctggactggGaggtgcaggctccactcagc	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000301305.3	-	5	1037	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC39A4_ENST00000276833.5_Missense_Mutation_p.S286Y|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	311					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTGGACTGGGAGGTGCAGGC	0.657																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(856-858)tCc>tAc		solute carrier family 39 (zinc transporter), member 4							43	46	45					8																	145640153		2203	4300	6503	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145640153G>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.932C>A	8.37:g.145640153G>T	ENSP00000301305:p.Ser311Tyr					SLC39A4_ENST00000301305.3_Missense_Mutation_p.S311Y	p.S286Y	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		4	1160	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		311					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.857C>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397820	0.25205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61859	0.07;0.24	4.98	4.1	0.47936	.	1.088530	0.06917	N	0.808769	T	0.50990	0.1648	L	0.34521	1.04	0.09310	N	1	B;P	0.51653	0.012;0.947	B;P	0.47744	0.006;0.556	T	0.16748	-1.0392	10	0.06365	T	0.9	-17.042	11.0603	0.47944	0.0926:0.0:0.9074:0.0	.	311;286	Q6P5W5;A6NDY5	S39A4_HUMAN;.	Y	286;311	ENSP00000276833:S286Y;ENSP00000301305:S311Y	ENSP00000276833:S286Y	S	-	2	0	SLC39A4	145610961	0.000000	0.05858	0.255000	0.24374	0.009000	0.06853	0.145000	0.16157	1.115000	0.41800	0.543000	0.68304	TCC		0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			70	365	1	0	1.74474e-33	1	2.06836e-33	70	365					T	145640153	G	T	145640153	3	4	79	1	0	0	0	0	1	0	0	0	14670	1174	41	3	1043	3	SLC39A4	8	145640153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1499	145640153	723869	9815	20132											
SLC39A4	55630	broad.mit.edu	37	chr8	145641572	145641572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcctgtttccctttcAagtccaacaacgtccaccat	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TTTCCCTTTCAAGTCCAACAA	0.672																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(19-21)ctT>ctC		solute carrier family 39 (zinc transporter), member 4							29	36	34					8																	145641572		2009	4165	6174	SO:0001819	synonymous_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145641572A>G	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.21T>C	8.37:g.145641572A>G						SLC39A4_ENST00000301305.3_Intron	p.L7L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		1	324	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000276833.5	37	c.21T>C	CCDS43782.1																																																																																				0.672	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2			7	48	0	0	0	1	0	7	48					G	145641572	A	G	145641572	2	3	79	1	0	0	0	0	0	0	0	1	14670	117	5	4		4	SLC39A4	8	145641572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1419	145641572	722450	9816	20133											
NFKBIL2	4796	broad.mit.edu	37	chr8	145666464	145666464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccctcagcctcttccAgctgttgctgcagccggacc	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145666464A>G	ENST00000409379.3	-	8	925	c.896T>C	c.(895-897)cTg>cCg	p.L299P	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	299					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCCTCTTCCAGCTGTTGCTG	0.637																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(895-897)cTg>cCg		tonsoku-like, DNA repair protein							58	57	58					8																	145666464		2203	4298	6501	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145666464A>G		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.896T>C	8.37:g.145666464A>G	ENSP00000386239:p.Leu299Pro						p.L299P	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			8	925	-			299					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.896T>C	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585666	0.46110	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.78364	-1.17	5.45	4.25	0.50352	Tetratricopeptide repeat-containing (1);	0.515774	0.19909	N	0.103339	D	0.85186	0.5639	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84339	0.0526	10	0.66056	D	0.02	-9.2436	9.7074	0.40225	0.8445:0.0:0.0:0.1555	.	299	Q96HA7	TONSL_HUMAN	P	299	ENSP00000386239:L299P	ENSP00000386239:L299P	L	-	2	0	TONSL	145637272	1.000000	0.71417	0.984000	0.44739	0.243000	0.25628	4.253000	0.58791	0.854000	0.35336	0.459000	0.35465	CTG		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		55	310	0	0	0	1	0	55	310					G	145666464	A	G	145666464	3	3	79	1	0	0	0	0	1	0	0	0	10424	188	7	4	3316	4	NFKBIL2	8	145666464	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24892	145666464	697558	9817	20134											
PPP1R16A	84988	broad.mit.edu	37	chr8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccacctttttgcagtcCgccagttccttgggagtggg	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	88						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(262-264)Cgc>Tgc		protein phosphatase 1, regulatory subunit 16A							49	48	48					8																	145724155		2202	4300	6502	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145724155C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.262C>T	8.37:g.145724155C>T	ENSP00000292539:p.Arg88Cys					CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA	p.R88C			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1179	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		88					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.262C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688159	0.29962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.67345	-0.26;-0.26	4.65	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.199760	0.40302	N	0.001134	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	B	0.25351	0.124	B	0.27170	0.077	T	0.61969	-0.6953	10	0.48119	T	0.1	.	8.275	0.31866	0.0:0.8035:0.0:0.1965	.	88	Q96I34	PP16A_HUMAN	C	88	ENSP00000292539:R88C;ENSP00000391126:R88C	ENSP00000292539:R88C	R	+	1	0	PPP1R16A	145694963	0.005000	0.15991	0.996000	0.52242	0.385000	0.30292	0.365000	0.20348	1.095000	0.41419	0.462000	0.41574	CGC		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		31	223	0	0	0	1	0	31	223					T	145724155	C	T	145724155	3	4	79	1	0	0	0	0	1	0	0	0	12412	652	23	1	268	1	PPP1R16A	8	145724155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57691	145724155	639867	9818	20135											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcaacaccgacgggaAcatgccctatgacctgtgtg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	171						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(511-513)aAc>aCc		protein phosphatase 1, regulatory subunit 16A							123	78	93					8																	145725514		2200	4299	6499	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145725514A>C		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.512A>C	8.37:g.145725514A>C	ENSP00000292539:p.Asn171Thr					PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA	p.N171T			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1429	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		171					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.512A>C	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765820	0.90020	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53640	0.61;0.61	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56238	-0.8012	10	0.41790	T	0.15	.	13.1298	0.59375	1.0:0.0:0.0:0.0	.	171	Q96I34	PP16A_HUMAN	T	171	ENSP00000292539:N171T;ENSP00000391126:N171T	ENSP00000292539:N171T	N	+	2	0	PPP1R16A	145696322	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.221000	0.58574	1.996000	0.58369	0.459000	0.35465	AAC		0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		11	82	0	0	0	1	0	11	82					C	145725514	A	C	145725514	3	2	79	1	0	0	0	0	1	0	0	0	12412	43	2	4	526	4	PPP1R16A	8	145725514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1359	145725514	638508	9819	20136											
GPT	2875	broad.mit.edu	37	chr8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggccccatagtgcagcgaGccttggagctggagcaggag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000528431.1	+	2	290	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000394955.2_Missense_Mutation_p.A45S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	45					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	AGTGCAGCGAGCCTTGGAGCT	0.682																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(133-135)Gcc>Tcc		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						89	77	81					8																	145729820		2201	4297	6498	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145729820G>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.133G>T	8.37:g.145729820G>T	ENSP00000433586:p.Ala45Ser					GPT_ENST00000528431.1_Missense_Mutation_p.A45S	p.A45S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	356	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		45					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.133G>T	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672382	0.88348	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.45668	0.89;0.89	5.04	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.48260	1.515	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.87578	0.998;0.839	T	0.56944	-0.7895	10	0.62326	D	0.03	-27.8924	12.9533	0.58413	0.0:0.1643:0.8357:0.0	.	45;45	B4DPT5;P24298	.;ALAT1_HUMAN	S	45	ENSP00000433586:A45S;ENSP00000378408:A45S	ENSP00000378408:A45S	A	+	1	0	GPT	145700628	0.867000	0.29959	0.927000	0.36925	0.861000	0.49209	4.128000	0.57951	2.519000	0.84933	0.561000	0.74099	GCC		0.682	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			10	140	1	0	2.17888e-05	1	2.22852e-05	10	140					T	145729820	G	T	145729820	3	4	79	1	0	0	0	0	1	0	0	0	6767	971	34	3	135	3	GPT	8	145729820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	145729820	634202	9820	20137											
RECQL4	9401	broad.mit.edu	37	chr8	145740380	145740380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggcaggggctgcgccgGctgtagagcagcgctgggag	21	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	ENST00000428558.2	-	9	1601	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	520	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGCGCCGGCTGTAGAGCA	0.652			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													ENST00000428558.2			yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	"N, F, S"	RecQ protein-like 4			M		"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1558-1560)agC>agT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							20	25	23					8																	145740380		2142	4248	6390	SO:0001819	synonymous_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145740380G>A	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1560C>T	8.37:g.145740380G>A						RECQL4_ENST00000532237.1_5'UTR	p.S520S	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		9	1601	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		520			Helicase ATP-binding.		Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	37	c.1560C>T																																																																																					0.652	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		23	76	0	0	0	1	0	23	76					A	145740380	G	A	145740380	2	1	79	1	0	0	0	0	0	0	0	1	13252	1194	42	2		2	RECQL4	8	145740380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10560	145740380	623642	9821	20138											
RECQL4	9684	broad.mit.edu	37	chr8	145741444	145741444	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcatgttgagccgtacGtaattgcccctgtcatggcg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145741444G>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Silent_p.Y353Y|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGCCGTACGTAATTGCCCC	0.642																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1057-1059)taC>taT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							48	57	54					8																	145741444		2080	4189	6269	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741444G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741444G>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.Y353Y	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1100	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		353					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.1059C>T	CCDS6432.1																																																																																				0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		61	252	0	0	0	1	0	61	252					A	145741444	G	A	145741444	1	1	79	0	1	0	0	0	0	0	0	0	13252	1140	40	1		1	RECQL4	8	145741444	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1064	145741444	622578	9822	20139											
LRRC14	9684	broad.mit.edu	37	chr8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgcccactgcagccgtGccctcctgcaggagcggcct	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(220-222)Gcc>Acc		leucine rich repeat containing 14							68	68	68					8																	145745329		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745329G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.220G>A	8.37:g.145745329G>A	ENSP00000292524:p.Ala74Thr					LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	366	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		74					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.220G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712850	0.30413	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.45668	2.26;5.06;5.06;0.9;0.89	3.95	3.04	0.35103	.	0.430073	0.20711	N	0.087082	T	0.28699	0.0711	L	0.29908	0.895	0.31265	N	0.692394	B	0.25312	0.123	B	0.24974	0.057	T	0.22277	-1.0221	10	0.31617	T	0.26	.	9.7436	0.40433	0.1093:0.0:0.8907:0.0	.	74	Q15048	LRC14_HUMAN	T	74	ENSP00000436452:A74T;ENSP00000434768:A74T;ENSP00000292524:A74T;ENSP00000435985:A74T;ENSP00000434738:A74T	ENSP00000292524:A74T	A	+	1	0	LRRC14	145716137	0.178000	0.23122	0.996000	0.52242	0.939000	0.58152	1.659000	0.37387	2.052000	0.61016	0.462000	0.41574	GCC		0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		60	346	0	0	0	1	0	60	346					A	145745329	G	A	145745329	3	1	79	1	0	0	0	0	1	0	0	0	9006	1319	46	2	222	2	LRRC14	8	145745329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3885	145745329	618693	9823	20140											
LRRC14	9684	broad.mit.edu	37	chr8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaccgggcctcctatgCgttcctgcgggaggcactcc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(535-537)gCg>gTg		leucine rich repeat containing 14							43	50	48					8																	145745828		2203	4297	6500	SO:0001583	missense	9684							g.chr8:145745828C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.536C>T	8.37:g.145745828C>T	ENSP00000292524:p.Ala179Val					LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	682	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		179					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.536C>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573505	0.13623	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18016	2.24;5.04;5.04	4.27	2.36	0.29203	.	0.568408	0.17745	N	0.163439	T	0.09818	0.0241	N	0.20986	0.625	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.16100	-1.0414	10	0.32370	T	0.25	.	6.8223	0.23864	0.1783:0.4989:0.3228:0.0	.	179	Q15048	LRC14_HUMAN	V	179	ENSP00000436452:A179V;ENSP00000434768:A179V;ENSP00000292524:A179V	ENSP00000292524:A179V	A	+	2	0	LRRC14	145716636	0.000000	0.05858	0.007000	0.13788	0.100000	0.18952	0.728000	0.26013	2.219000	0.72066	0.462000	0.41574	GCG		0.711	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		87	480	0	0	0	1	0	87	480					T	145745828	C	T	145745828	3	4	79	1	0	0	0	0	1	0	0	0	9006	768	27	1	542	1	LRRC14	8	145745828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	145745828	618194	9824	20141											
LRRC14	9684	broad.mit.edu	37	chr8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcccacacgtggcccGcttccagcacctggccagcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(736-738)cGc>cAc		leucine rich repeat containing 14							48	50	49					8																	145746029		2203	4299	6502	SO:0001583	missense	9684							g.chr8:145746029G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.737G>A	8.37:g.145746029G>A	ENSP00000292524:p.Arg246His					LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	883	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		246					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.737G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251063	0.39797	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54071	0.59;0.59;0.59	4.08	3.1	0.35709	.	0.816864	0.11252	N	0.583542	T	0.36468	0.0968	L	0.36672	1.1	0.26091	N	0.980956	P	0.42078	0.77	B	0.36885	0.235	T	0.19516	-1.0303	10	0.39692	T	0.17	.	4.7619	0.13111	0.2552:0.0:0.7448:0.0	.	246	Q15048	LRC14_HUMAN	H	246	ENSP00000436452:R246H;ENSP00000434768:R246H;ENSP00000292524:R246H	ENSP00000292524:R246H	R	+	2	0	LRRC14	145716837	0.050000	0.20438	0.545000	0.28153	0.802000	0.45316	2.394000	0.44450	2.097000	0.63578	0.462000	0.41574	CGC		0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		71	351	0	0	0	1	0	71	351					A	145746029	G	A	145746029	3	1	79	1	0	0	0	0	1	0	0	0	9006	1087	38	1	743	1	LRRC14	8	145746029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	145746029	617993	9825	20142											
ARHGAP39	80728	broad.mit.edu	37	chr8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttcagggcattcacctCgtcaatgtccccagggaccc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2815-2817)Gag>Aag		Rho GTPase activating protein 39							74	52	59					8																	145757761		2203	4298	6501	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145757761C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2815G>A	8.37:g.145757761C>T	ENSP00000276826:p.Glu939Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K	p.E939K			Q9C0H5	RHG39_HUMAN			8	3016	-			939			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2815G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.440753	0.96168	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.18657	2.2;2.2;2.2	5.45	5.45	0.79879	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.957;0.994	T	0.02081	-1.1217	10	0.35671	T	0.21	-33.0693	16.768	0.85528	0.0:1.0:0.0:0.0	.	939;970	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	939;970;939	ENSP00000276826:E939K;ENSP00000366522:E970K;ENSP00000445075:E939K	ENSP00000276826:E939K	E	-	1	0	ARHGAP39	145728569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.565000	0.86533	0.561000	0.74099	GAG		0.642	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			19	115	0	0	0	1	0	19	115					T	145757761	C	T	145757761	3	4	79	1	0	0	0	0	1	0	0	0	884	893	31	1	448	1	ARHGAP39	8	145757761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11732	145757761	606261	9826	20143											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatcagcttgaagagctCgcaggcctccttcttcacgt	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2233-2235)Gag>Aag		Rho GTPase activating protein 39							72	65	68					8																	145770921		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770921C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2233G>A	8.37:g.145770921C>T	ENSP00000276826:p.Glu745Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K	p.E745K			Q9C0H5	RHG39_HUMAN			5	2434	-			745			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2233G>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.860027	0.91433	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69685	-0.42;-0.16;-0.42	4.92	4.92	0.64577	MyTH4 domain (1);	0.056351	0.64402	D	0.000002	T	0.74824	0.3767	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.981;0.999	P;P	0.60173	0.532;0.87	T	0.76945	-0.2771	10	0.59425	D	0.04	-9.4975	15.9706	0.80013	0.0:1.0:0.0:0.0	.	745;745	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	745	ENSP00000276826:E745K;ENSP00000366522:E745K;ENSP00000445075:E745K	ENSP00000276826:E745K	E	-	1	0	ARHGAP39	145741729	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	GAG		0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			26	231	0	0	0	1	0	26	231					T	145770921	C	T	145770921	3	4	79	1	0	0	0	0	1	0	0	0	884	893	31	1	1139	1	ARHGAP39	8	145770921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13160	145770921	593101	9827	20144											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgcttggaggcccaGttctcgatgtccgtctccga	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	696					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2086-2088)aaC>aaA		Rho GTPase activating protein 39							60	54	56					8																	145771066		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771066G>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2088C>A	8.37:g.145771066G>T	ENSP00000276826:p.Asn696Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K	p.N696K			Q9C0H5	RHG39_HUMAN			5	2289	-			696					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2088C>A		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588366	0.66105	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68331	-0.32;-0.04;-0.32	5.22	4.35	0.52113	.	0.157092	0.56097	D	0.000033	T	0.50429	0.1615	N	0.03050	-0.425	0.45464	D	0.998435	D;P	0.58620	0.983;0.918	P;P	0.55508	0.777;0.712	T	0.47923	-0.9079	10	0.10636	T	0.68	-10.3016	11.4392	0.50086	0.0886:0.0:0.9114:0.0	.	696;696	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	696	ENSP00000276826:N696K;ENSP00000366522:N696K;ENSP00000445075:N696K	ENSP00000276826:N696K	N	-	3	2	ARHGAP39	145741874	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.044000	0.57361	1.190000	0.43042	0.650000	0.86243	AAC		0.637	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			28	225	1	0	1.75199e-13	1	1.89187e-13	28	225					T	145771066	G	T	145771066	3	4	79	1	0	0	0	0	1	0	0	0	884	1020	36	3	1284	3	ARHGAP39	8	145771066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	145771066	592956	9828	20145											
ZNF251	90987	broad.mit.edu	37	chr8	145948338	145948338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccggccacattcgtacGgcttctccccagtgtgactt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145948338G>A	ENST00000292562.7	-	5	982	c.707C>T	c.(706-708)cCg>cTg	p.P236L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	236					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATTCGTACGGCTTCTCCCC	0.423																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(706-708)cCg>cTg		zinc finger protein 251							58	64	62					8																	145948338		2075	4236	6311	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948338G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.707C>T	8.37:g.145948338G>A	ENSP00000292562:p.Pro236Leu					ZNF251_ENST00000524394.1_Intron	p.P236L	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	982	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.707C>T	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214183	0.39102	.	.	ENSG00000198169	ENST00000292562	T	0.17054	2.3	2.44	1.55	0.23275	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28466	0.0704	L	0.59436	1.845	0.42217	D	0.991838	D	0.76494	0.999	P	0.59171	0.853	T	0.03829	-1.1000	9	0.66056	D	0.02	-9.0938	8.4183	0.32685	0.1307:0.0:0.8693:0.0	.	236	Q9BRH9	ZN251_HUMAN	L	236	ENSP00000292562:P236L	ENSP00000292562:P236L	P	-	2	0	ZNF251	145919147	1.000000	0.71417	0.213000	0.23690	0.113000	0.19764	4.403000	0.59729	0.577000	0.29470	0.563000	0.77884	CCG		0.423	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		9	385	0	0	0	1	0	9	385					A	145948338	G	A	145948338	3	1	79	1	0	0	0	0	1	0	0	0	17849	1116	39	1	1312	1	ZNF251	8	145948338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177272	145948338	415684	9829	20146											
ZNF34	80778	broad.mit.edu	37	chr8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttgccacattccttgCactcaaatggcttctctccg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000343459.4	-	6	1243	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	ZNF34_ENST00000429371.2_Missense_Mutation_p.C372Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428																																						ENST00000429371.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1114-1116)tGc>tAc		zinc finger protein 34							46	51	49					8																	145999156		2184	4298	6482	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145999156C>T	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1178G>A	8.37:g.145999156C>T	ENSP00000341528:p.Cys393Tyr					ZNF34_ENST00000343459.4_Missense_Mutation_p.C393Y	p.C372Y	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1268	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	393					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.1115G>A	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610860	0.66558	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	D;D	0.85088	-1.94;-1.94	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003504	D	0.94305	0.8170	H	0.95328	3.655	0.36271	D	0.855171	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.97739	1.0207	10	0.87932	D	0	.	15.4547	0.75302	0.0:1.0:0.0:0.0	.	352;393	E7EN25;Q8IZ26	.;ZNF34_HUMAN	Y	352;322;393;372	ENSP00000341528:C393Y;ENSP00000396894:C372Y	ENSP00000341528:C393Y	C	-	2	0	ZNF34	145969960	0.997000	0.39634	0.999000	0.59377	0.940000	0.58332	5.107000	0.64603	2.351000	0.79841	0.561000	0.74099	TGC		0.428	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		40	108	0	0	0	1	0	40	108					T	145999156	C	T	145999156	3	4	79	1	0	0	0	0	1	0	0	0	17909	710	25	2	508	2	ZNF34	8	145999156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50818	145999156	364866	9830	20147											
ZNF517	340385	broad.mit.edu	37	chr8	146033667	146033667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccataccggtgccgcGcctgcgggagggcctgcagc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	ENST00000531720.1	+	4	1411	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_ENST00000359971.3_Missense_Mutation_p.A456T|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCGGTGCCGCGCCTGCGGGAG	0.721																																						ENST00000359971.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1366-1368)Gcc>Acc		zinc finger protein 517							9	11	11					8																	146033667		2167	4272	6439	SO:0001583	missense	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033667G>A	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1366G>A	8.37:g.146033667G>A	ENSP00000436103:p.Ala456Thr					ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.A456T	p.A456T	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1473	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		456						Missense_Mutation	SNP	ENST00000531720.1	37	c.1366G>A	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451993	0.12283	.	.	ENSG00000197363	ENST00000359971;ENST00000531720	T;T	0.18016	2.24;2.24	2.44	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	N	0.05554	-0.025	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.32402	-0.9908	9	0.52906	T	0.07	.	4.193	0.10430	0.142:0.0:0.6311:0.2269	.	456	Q6ZMY9	ZN517_HUMAN	T	456	ENSP00000353058:A456T;ENSP00000436103:A456T	ENSP00000353058:A456T	A	+	1	0	ZNF517	146004471	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.863000	0.04259	-0.038000	0.13624	-0.268000	0.10319	GCC		0.721	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		17	63	0	0	0	1	0	17	63					A	146033667	G	A	146033667	3	1	79	1	0	0	0	0	1	0	0	0	18014	1087	38	1	1380	1	ZNF517	8	146033667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	146033667	330355	9831	20148											
ZNF250	58500	broad.mit.edu	37	chr8	146107485	146107485	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacactcgctgcacgtgtaGggcttctccccggtgtggat	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	366					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)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(1096-1098)ccC>ccA		zinc finger protein 250							121	92	102					8																	146107485		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107485G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1098C>A	8.37:g.146107485G>T						ZNF250_ENST00000417550.2_Silent_p.P361P|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	p.P366P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1214	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		366					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.1098C>A	CCDS34972.1																																																																																				0.582	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		62	259	1	0	3.07184e-27	1	3.5546e-27	62	259					T	146107485	G	T	146107485	2	4	79	1	0	0	0	0	0	0	0	1	17848	987	35	3		3	ZNF250	8	146107485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73818	146107485	256537	9832	20149											
ZNF16	7564	broad.mit.edu	37	chr8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggcttgccacaatcaTtacactcataaggcttctct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1222-1224)aAt>aCt		zinc finger protein 16							98	92	94					8																	146156950		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156950T>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1223A>C	8.37:g.146156950T>G	ENSP00000276816:p.Asn408Thr					ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1409	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	408					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1223A>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	6.663	0.490788	0.12702	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17054	2.3;2.3	3.88	0.141	0.14811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.05467	-0.045	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.23904	-1.0175	9	0.48119	T	0.1	.	4.232	0.10608	0.0:0.3157:0.1749:0.5093	.	408	P17020	ZNF16_HUMAN	T	408	ENSP00000276816:N408T;ENSP00000378369:N408T	ENSP00000276816:N408T	N	-	2	0	ZNF16	146127754	0.000000	0.05858	0.084000	0.20598	0.929000	0.56500	-1.587000	0.02108	-0.142000	0.11354	-0.464000	0.05259	AAT		0.527	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		74	312	0	0	0	1	0	74	312					G	146156950	T	G	146156950	3	3	79	1	0	0	0	0	1	0	0	0	17791	1493	52	4	829	4	ZNF16	8	146156950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49465	146156950	207072	9833	20150											
C8orf33	65265	broad.mit.edu	37	chr8	146278525	146278525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggcagaaacccaccccGaaacagagtaagggaccctt	10	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146278525G>A	ENST00000331434.6	+	3	510	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	132										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AACCCACCCCGAAACAGAGTA	0.577																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(394-396)ccG>ccA		chromosome 8 open reading frame 33							79	82	81					8																	146278525		2203	4300	6503	SO:0001819	synonymous_variant	65265							g.chr8:146278525G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.396G>A	8.37:g.146278525G>A							p.P132P	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	510	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		132					A6NGC0|Q96BT8	Silent	SNP	ENST00000331434.6	37	c.396G>A	CCDS34974.1																																																																																				0.577	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		7	411	0	0	0	1	0	7	411					A	146278525	G	A	146278525	2	1	79	1	0	0	0	0	0	0	0	1	2428	1045	37	1		1	C8orf33	8	146278525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121575	146278525	85497	9834	20151											
FOXD4	2298	broad.mit.edu	37	chr9	117437	117437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagcagagggcctgggCgggggttgtgcagggcggcg	21	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117437C>T	ENST00000382500.2	-	1	980	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	228	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R228H(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGGCCTGGGCGGGGGTTGTG	0.741																																						ENST00000382500.2																			1	Substitution - Missense(1)	p.R228H(1)	skin(1)	endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(682-684)cGc>cAc		forkhead box D4							19	31	27					9																	117437		1322	2695	4017	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117437C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.683G>A	9.37:g.117437C>T	ENSP00000371940:p.Arg228His						p.R228H	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	980	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	228			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.683G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	3.441	-0.114120	0.06881	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	1.69	0.405	0.16361	.	.	.	.	.	T	0.80999	0.4732	N	0.03608	-0.345	0.21355	N	0.999716	B	0.06786	0.001	B	0.01281	0.0	T	0.68534	-0.5383	9	0.07644	T	0.81	.	4.2202	0.10554	0.0:0.1344:0.2029:0.6628	.	228	Q12950	FOXD4_HUMAN	H	228	ENSP00000371940:R228H	ENSP00000371940:R228H	R	-	2	0	FOXD4	107437	0.072000	0.21174	0.005000	0.12908	0.226000	0.24999	0.211000	0.17474	-0.288000	0.09051	-1.039000	0.02377	CGC		0.741	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		57	483	0	0	0	1	0	57	483					T	117437	C	T	117437	3	4	79	1	0	0	0	0	1	0	0	0	6024	768	27	1	640	1	FOXD4	9	117437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		117437	141095994	9835	20152											
FOXD4	2298	broad.mit.edu	37	chr9	118009	118009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcgccgcctcctcctcGtcttcatcttcctcctctcc	5	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	37					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTCCTCCTCGTCTTCATCTT	0.662																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(109-111)gaC>gaT		forkhead box D4							44	59	54					9																	118009		2203	4300	6503	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118009G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.111C>T	9.37:g.118009G>A							p.D37D	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	408	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	37					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.111C>T	CCDS34975.1																																																																																				0.662	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		101	510	0	0	0	1	0	101	510					A	118009	G	A	118009	2	1	79	1	0	0	0	0	0	0	0	1	6024	1136	40	1		1	FOXD4	9	118009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	118009	141095422	9836	20153											
DOCK8	81704	broad.mit.edu	37	chr9	372257	372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgccttggaaaaattgCcacccaactactccatgcat	6	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1876-1878)Cca>Tca		dedicator of cytokinesis 8							123	111	115					9																	372257		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:372257C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2080C>T	9.37:g.372257C>T	ENSP00000408464:p.Pro694Ser					DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S	p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	18	2192	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	694					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1876C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		60	313	0	0	0	1	0	60	313					T	372257	C	T	372257	3	4	79	1	0	0	0	0	1	0	0	0	4709	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254248	372257	140841174	9837	20154											
DOCK8	81704	broad.mit.edu	37	chr9	376229	376229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcccattacagaatcCtcccattaagtgggctgaag	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000453981.1	+	19	2241	c.2129C>A	c.(2128-2130)cCt>cAt	p.P710H	DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H|DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	710	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTACAGAATCCTCCCATTAAG	0.373																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1924-1926)cCt>cAt		dedicator of cytokinesis 8							125	124	124					9																	376229		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376229C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2129C>A	9.37:g.376229C>A	ENSP00000408464:p.Pro710His					DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P710H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H	p.P642H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2241	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	710					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1925C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329458	0.81690	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.44881	2.23;2.23;2.25;0.91;2.04	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.99;1.0	D;D;D;D	0.91635	0.961;0.999;0.972;0.998	T	0.75657	-0.3242	10	0.87932	D	0	.	14.5025	0.67732	0.0:0.9297:0.0:0.0703	.	12;642;177;710	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	H	710;710;642;642;12;177	ENSP00000408464:P710H;ENSP00000394888:P642H;ENSP00000419438:P642H;ENSP00000371768:P12H;ENSP00000371766:P177H	ENSP00000287364:P710H	P	+	2	0	DOCK8	366229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	1.388000	0.46506	0.650000	0.86243	CCT		0.373	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		103	442	1	0	1.61456e-63	1	2.03829e-63	103	442					A	376229	C	A	376229	3	1	79	1	0	0	0	0	1	0	0	0	4709	681	24	3	2203	3	DOCK8	9	376229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3972	376229	140837202	9838	20155											
DOCK8	81704	broad.mit.edu	37	chr9	382633	382633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtaacccagacctcgCggggacacactccgcagcag	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:382633C>T	ENST00000453981.1	+	22	2838	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V|DOCK8_ENST00000432829.2_Missense_Mutation_p.A841V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGACCTCGCGGGGACACAC	0.542																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2521-2523)gCg>gTg		dedicator of cytokinesis 8							64	56	59					9																	382633		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:382633C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2726C>T	9.37:g.382633C>T	ENSP00000408464:p.Ala909Val					DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V	p.A841V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	22	2838	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	909					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2522C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849439	0.32699	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.64	2.51	0.30379	.	0.517985	0.20394	N	0.093194	T	0.24314	0.0589	L	0.47190	1.495	0.09310	N	1	B;B;B;B	0.16603	0.018;0.0;0.001;0.0	B;B;B;B	0.11329	0.006;0.001;0.002;0.001	T	0.22173	-1.0224	10	0.20519	T	0.43	.	10.0352	0.42125	0.0:0.7579:0.0:0.2421	.	211;841;376;909	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	909;909;841;841;211;376	ENSP00000408464:A909V;ENSP00000394888:A841V;ENSP00000419438:A841V;ENSP00000371768:A211V;ENSP00000371766:A376V	ENSP00000287364:A909V	A	+	2	0	DOCK8	372633	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	1.427000	0.34881	0.208000	0.20626	-0.126000	0.14955	GCG		0.542	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	386	0	0	0	1	0	7	386					T	382633	C	T	382633	3	4	79	1	0	0	0	0	1	0	0	0	4709	768	27	1	2812	1	DOCK8	9	382633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6404	382633	140830798	9839	20156											
DOCK8	81704	broad.mit.edu	37	chr9	421012	421012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagggatgtcaaggccCggctggaagaggctttgctc	15	9	2	1	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000453981.1	+	32	4199	c.4087C>T	c.(4087-4089)Cgg>Tgg	p.R1363W	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1363					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGTCAAGGCCCGGCTGGAAGA	0.582																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3883-3885)Cgg>Tgg		dedicator of cytokinesis 8		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	86	86	86		3787,3883,4087	-3	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1263/2000,1295/2032,1363/2100	421012	1,13005	2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:421012C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4087C>T	9.37:g.421012C>T	ENSP00000408464:p.Arg1363Trp					DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1363W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W	p.R1295W	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	32	4199	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1363					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3883C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055129	0.55325	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.76	-2.97	0.05530	.	0.210418	0.47852	D	0.000205	T	0.05090	0.0136	M	0.74881	2.28	0.34970	D	0.753095	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.15870	0.008;0.014;0.008	T	0.40664	-0.9551	10	0.87932	D	0	.	22.6959	0.99975	0.2404:0.7596:0.0:0.0	.	1263;830;1363	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	W	1363;1331;1295;1263;830	ENSP00000408464:R1363W;ENSP00000394888:R1295W;ENSP00000419438:R1263W;ENSP00000371766:R830W	ENSP00000287364:R1331W	R	+	1	2	DOCK8	411012	0.989000	0.36119	0.926000	0.36857	0.860000	0.49131	0.889000	0.28282	-0.423000	0.07394	-0.262000	0.10625	CGG		0.582	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		63	429	0	0	0	1	0	63	429					T	421012	C	T	421012	3	4	79	1	0	0	0	0	1	0	0	0	4709	643	23	1	4213	1	DOCK8	9	421012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38379	421012	140792419	9840	20157											
KANK1	23189	broad.mit.edu	37	chr9	712587	712587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaggcagcaacacagaGgagtctgtgaacgacctcac	11	11	2	2	rs539839243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D|KANK1_ENST00000382297.2_Missense_Mutation_p.E607D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	607					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAACACAGAGGAGTCTGTGA	0.507																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1819-1821)gaG>gaT		KN motif and ankyrin repeat domains 1							183	158	166					9																	712587		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712587G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1821G>T	9.37:g.712587G>T	ENSP00000371740:p.Glu607Asp					KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D	p.E607D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2473	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	607					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1821G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706310	0.30232	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	1.25	0.21368	.	0.219708	0.31909	N	0.006867	T	0.71668	0.3367	L	0.43152	1.355	0.80722	D	1	P;B	0.48911	0.917;0.074	P;B	0.49140	0.601;0.055	T	0.68481	-0.5397	10	0.46703	T	0.11	-0.6817	6.9281	0.24426	0.2122:0.2542:0.5336:0.0	.	607;607	Q5W0W1;Q14678	.;KANK1_HUMAN	D	607;607;607;449	ENSP00000371740:E607D;ENSP00000371734:E607D;ENSP00000371730:E449D	ENSP00000346479:E607D	E	+	3	2	KANK1	702587	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.463000	0.35277	0.815000	0.34398	0.650000	0.86243	GAG		0.507	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		57	295	1	0	9.72345e-25	1	1.11288e-24	57	295					T	712587	G	T	712587	3	4	79	1	0	0	0	0	1	0	0	0	8006	991	35	3	1827	3	KANK1	9	712587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291575	712587	140500844	9841	20158											
DMRT1	1761	broad.mit.edu	37	chr9	847106	847106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcagtggcacctctcaGccaccgccggccagtgtccc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000382276.3	+	2	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					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)			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)		GCACCTCTCAGCCACCGCCGG	0.627																																						ENST00000382276.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(499-501)caG>caT		doublesex and mab-3 related transcription factor 1							49	43	45					9																	847106		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.chr9:847106G>T	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.501G>T	9.37:g.847106G>T	ENSP00000371711:p.Gln167His					DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	p.Q167H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	2	650	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	167					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.501G>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908389	0.33721	.	.	ENSG00000137090	ENST00000382276	T	0.18810	2.19	4.8	3.9	0.45041	.	1.441650	0.04171	N	0.324722	T	0.33760	0.0874	L	0.45285	1.41	0.30040	N	0.812651	D;B	0.61697	0.99;0.006	P;B	0.59288	0.855;0.016	T	0.05599	-1.0875	10	0.42905	T	0.14	.	5.3827	0.16199	0.1814:0.1671:0.6516:0.0	.	167;167	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	H	167	ENSP00000371711:Q167H	ENSP00000371711:Q167H	Q	+	3	2	DMRT1	837106	0.999000	0.42202	0.786000	0.31890	0.451000	0.32288	0.949000	0.29109	1.025000	0.39708	0.655000	0.94253	CAG		0.627	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		29	217	1	0	3.99451e-17	1	4.40333e-17	29	217					T	847106	G	T	847106	3	4	79	1	0	0	0	0	1	0	0	0	4601	962	34	3	507	3	DMRT1	9	847106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134519	847106	140366325	9842	20159											
DMRT3	58524	broad.mit.edu	37	chr9	977109	977109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctgccgcaaccatggCgtcctgtcctggctcaaggg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	ENST00000190165.2	+	1	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	36					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCAACCATGGCGTCCTGTCCT	0.682																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(106-108)ggC>ggT		doublesex and mab-3 related transcription factor 3							20	17	18					9																	977109		2199	4299	6498	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977109C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.108C>T	9.37:g.977109C>T							p.G36G	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	146	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	36					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.108C>T	CCDS6443.1																																																																																				0.682	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		8	84	0	0	0	1	0	8	84					T	977109	C	T	977109	2	4	79	1	0	0	0	0	0	0	0	1	4603	755	27	1		1	DMRT3	9	977109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130003	977109	140236322	9843	20160											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs62639301	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		14	152						14	152	---	---	---	---	-	2039779	CAG	-	2039777	7	5	79	1	0	1	0	1	0	0	0	0	14819	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	1062668	2039777	139173654	9844	20161											
SMARCA2	6595	broad.mit.edu	37	chr9	2073274	2073274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactcacacagaaaccggCaaggttctgttcggaccaga	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	603					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGAAACCGGCAAGGTTCTGT	0.502																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1807-1809)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							75	75	75					9																	2073274		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2073274C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1809C>T	9.37:g.2073274C>T						SMARCA2_ENST00000349721.2_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000382194.1_Silent_p.G603G	p.G603G			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	11	2018	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	603					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1809C>T	CCDS34977.1																																																																																				0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		34	199	0	0	0	1	0	34	199					T	2073274	C	T	2073274	2	4	79	1	0	0	0	0	0	0	0	1	14819	697	25	2		2	SMARCA2	9	2073274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33497	2073274	139140157	9845	20162											
SMARCA2	6595	broad.mit.edu	37	chr9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattctgccaaaattgagagCgactaatcaccgagtgctgc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1064	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAATTGAGAGCGACTAATCAC	0.443																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3190-3192)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							229	210	217					9																	2104068		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2104068C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3191C>T	9.37:g.2104068C>T	ENSP00000371638:p.Ala1064Val					SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V	p.A1064V			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	23	3400	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1064			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3191C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440013	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.84511	2.7	0.80722	D	1	B;D;D	0.76494	0.347;0.999;0.999	B;D;D	0.78314	0.048;0.991;0.98	D	0.90030	0.4134	10	0.56958	D	0.05	-21.8405	19.8145	0.96560	0.0:1.0:0.0:0.0	.	665;1064;1064	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	1064	ENSP00000265773:A1064V;ENSP00000349788:A1064V;ENSP00000371638:A1064V;ENSP00000371629:A1064V	ENSP00000265773:A1064V	A	+	2	0	SMARCA2	2094068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.683000	0.91414	0.563000	0.77884	GCG		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		121	581	0	0	0	1	0	121	581					T	2104068	C	T	2104068	3	4	79	1	0	0	0	0	1	0	0	0	14819	768	27	1	3277	1	SMARCA2	9	2104068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30794	2104068	139109363	9846	20163											
SMARCA2	6595	broad.mit.edu	37	chr9	2119478	2119478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagatgaagtaccggaCgatgagactctgaaccaaat	11	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1235					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTACCGGACGATGAGACTC	0.408																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3703-3705)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							108	100	103					9																	2119478		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2119478C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3705C>T	9.37:g.2119478C>T						SMARCA2_ENST00000349721.2_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000382194.1_Silent_p.D1235D	p.D1235D			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	26	3914	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1235					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.3705C>T	CCDS34977.1																																																																																				0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		37	228	0	0	0	1	0	37	228					T	2119478	C	T	2119478	2	4	79	1	0	0	0	0	0	0	0	1	14819	535	19	1		1	SMARCA2	9	2119478	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15410	2119478	139093953	9847	20164											
VLDLR	7436	broad.mit.edu	37	chr9	2643913	2643913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagcaaagtatgtaaccaGgagcaggactgcagggactg	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.3	+	7	1376	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	340	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATGTAACCAGGAGCAGGACT	0.443																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1018-1020)caG>caT		very low density lipoprotein receptor							145	150	148					9																	2643913		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643913G>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1020G>T	9.37:g.2643913G>T	ENSP00000371532:p.Gln340His					VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	7	1376	+			340			LDL-receptor class A 8.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1020G>T	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247549	0.39697	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95554	-3.74;-3.74	5.24	3.21	0.36854	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.131016	0.35320	N	0.003286	D	0.85729	0.5764	N	0.02842	-0.48	0.33844	D	0.631831	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.82232	-0.0559	10	0.51188	T	0.08	.	7.9089	0.29778	0.1504:0.0:0.7225:0.1271	.	340;340;340	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	340;340;219	ENSP00000371532:Q340H;ENSP00000371531:Q340H	ENSP00000371524:Q219H	Q	+	3	2	VLDLR	2633913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.264000	0.51553	0.661000	0.30985	0.655000	0.94253	CAG		0.443	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		12	471	1	0	0.010729	1	0.0107869	12	471					T	2643913	G	T	2643913	3	4	79	1	0	0	0	0	1	0	0	0	17228	991	35	3	1046	3	VLDLR	9	2643913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524435	2643913	138569518	9848	20165											
KCNV2	169522	broad.mit.edu	37	chr9	2717904	2717904	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaactataactactacatCgaggaagacgaagacggcga	11	9	0	2	rs373688228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	55					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACTACTACATCGAGGAAGACG	0.642																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(163-165)atC>atT		potassium channel, subfamily V, member 2							146	118	127					9																	2717904		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2717904C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.165C>T	9.37:g.2717904C>T							p.I55I	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	403	+			55					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.165C>T	CCDS6447.1																																																																																				0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		81	436	0	0	0	1	0	81	436					T	2717904	C	T	2717904	2	4	79	1	0	0	0	0	0	0	0	1	8125	874	31	1		1	KCNV2	9	2717904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73991	2717904	138495527	9849	20166											
KCNV2	169522	broad.mit.edu	37	chr9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccagctaagcctgtgcGacgactacgaggagcagaca	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	140					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGCCTGTGCGACGACTACGA	0.637																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(418-420)Gac>Aac		potassium channel, subfamily V, member 2							18	18	18					9																	2718157		2200	4294	6494	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718157G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.418G>A	9.37:g.2718157G>A	ENSP00000371514:p.Asp140Asn						p.D140N	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	656	+			140					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.418G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875721	0.91664	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77620	-1.11	5.07	5.07	0.68467	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	18.4533	0.90711	0.0:0.0:1.0:0.0	.	140	Q8TDN2	KCNV2_HUMAN	N	140	ENSP00000371514:D140N	ENSP00000371514:D140N	D	+	1	0	KCNV2	2708157	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	9.855000	0.99526	2.352000	0.79861	0.462000	0.41574	GAC		0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		18	79	0	0	0	1	0	18	79					A	2718157	G	A	2718157	3	1	79	1	0	0	0	0	1	0	0	0	8125	1058	37	1	420	1	KCNV2	9	2718157	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	2718157	138495274	9850	20167											
KCNV2	169522	broad.mit.edu	37	chr9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcctggtggtgggccGcggtgagtacctttgccctg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.A452T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGTGGGCCGCGGTGAGTAC	0.602																																						ENST00000382082.3																			1	Substitution - Missense(1)	p.A452T(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1354-1356)Gcg>Acg		potassium channel, subfamily V, member 2							47	46	46					9																	2719093		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2719093G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1354G>A	9.37:g.2719093G>A	ENSP00000371514:p.Ala452Thr						p.A452T	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1592	+			452					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.1354G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614062	0.28712	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.44	4.54	0.55810	Ion transport (1);	0.051120	0.85682	D	0.000000	D	0.96466	0.8847	N	0.20401	0.57	0.58432	D	0.999999	D	0.65815	0.995	P	0.55713	0.782	D	0.94666	0.7852	10	0.15499	T	0.54	.	14.1427	0.65329	0.0716:0.0:0.9284:0.0	.	452	Q8TDN2	KCNV2_HUMAN	T	452	ENSP00000371514:A452T	ENSP00000371514:A452T	A	+	1	0	KCNV2	2709093	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	6.784000	0.75084	1.299000	0.44798	0.650000	0.86243	GCG		0.602	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		47	196	0	0	0	1	0	47	196					A	2719093	G	A	2719093	3	1	79	1	0	0	0	0	1	0	0	0	8125	1087	38	1	1356	1	KCNV2	9	2719093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	2719093	138494338	9851	20168											
KIAA0020	9933	broad.mit.edu	37	chr9	2811514	2811514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttgggcgtgttcttgCaggtagcttaacaaagctgg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	494	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(1480-1482)ctG>ctA		KIAA0020							157	143	148					9																	2811514		2203	4300	6503	SO:0001819	synonymous_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2811514C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1482G>A	9.37:g.2811514C>T							p.L494L	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	15	1688	-			494			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	c.1482G>A	CCDS6448.2																																																																																				0.483	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		120	498	0	0	0	1	0	120	498					T	2811514	C	T	2811514	2	4	79	1	0	0	0	0	0	0	0	1	8182	697	25	2		2	KIAA0020	9	2811514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92421	2811514	138401917	9852	20169											
GLIS3	169792	broad.mit.edu	37	chr9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctctgtggaaaacaTcaaaactggcctggcccatg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	717					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGGAAAACATCAAAACTGGC	0.537																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2149-2151)gAt>gGt		GLIS family zinc finger 3							108	93	98					9																	3829351		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829351T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2150A>G	9.37:g.3829351T>C	ENSP00000325494:p.Asp717Gly					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	p.D717G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2343	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	717					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.2150A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.878591	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11821	2.77;2.74	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000082	T	0.08537	0.0212	N	0.19112	0.55	0.37435	D	0.914172	B;B;B	0.32693	0.38;0.38;0.051	B;B;B	0.30316	0.114;0.114;0.034	T	0.38693	-0.9649	10	0.15952	T	0.53	.	11.4116	0.49929	0.0:0.0717:0.0:0.9283	.	312;872;717	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	G	717;872	ENSP00000325494:D717G;ENSP00000371398:D872G	ENSP00000325494:D717G	D	-	2	0	GLIS3	3819351	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	4.122000	0.57910	2.270000	0.75569	0.460000	0.39030	GAT		0.537	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		40	184	0	0	0	1	0	40	184					C	3829351	T	C	3829351	3	2	79	1	0	0	0	0	1	0	0	0	6476	1435	50	4	185	4	GLIS3	9	3829351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1017837	3829351	137384080	9853	20170											
GLIS3	169792	broad.mit.edu	37	chr9	4118509	4118509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccaccaaggacgtgggCgacgtgcggatgatggtatt	16	8	0	1	rs201431173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	168					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGACGTGGGCGACGTGCGGA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16377	0.001		0.0	False		,,,				2504	0.0					ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(502-504)tcG>tcA		GLIS family zinc finger 3							72	62	65					9																	4118509		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118509C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.504G>A	9.37:g.4118509C>T						GLIS3_ENST00000381971.3_Silent_p.S323S	p.S168S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	697	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	168					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.504G>A	CCDS6451.1																																																																																				0.647	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		29	399	0	0	0	1	0	29	399					T	4118509	C	T	4118509	2	4	79	1	0	0	0	0	0	0	0	1	6476	755	27	1		1	GLIS3	9	4118509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289158	4118509	137094922	9854	20171											
GLIS3	169792	broad.mit.edu	37	chr9	4286138	4286138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtgacctggaatcgCggcttcccattggtgagcat	14	11	0	2	rs371790247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	328	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTGGAATCGCGGCTTCCCAT	0.557																																						ENST00000381971.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(286-288)ccG>ccA		GLIS family zinc finger 3		C		0,3996		0,0,1998	83	85	84		288	-2.1	1	9		84	1,8325		0,1,4162	no	coding-synonymous	GLIS3	NM_001042413.1		0,1,6160	TT,TC,CC		0.012,0.0,0.0081		96/931	4286138	1,12321	1998	4163	6161	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286138C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.288G>A	9.37:g.4286138C>T							p.P96P	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	881	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	328			Ser-rich.		B1AL19|Q1PHK5	Silent	SNP	ENST00000381971.3	37	c.288G>A	CCDS43784.1																																																																																				0.557	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		79	471	0	0	0	1	0	79	471					T	4286138	C	T	4286138	2	4	79	1	0	0	0	0	0	0	0	1	6476	755	27	1		1	GLIS3	9	4286138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167629	4286138	136927293	9855	20172											
SLC1A1	6505	broad.mit.edu	37	chr9	4576049	4576049	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctgatatatttcatagtCgtacgaaagaaccctttccg	7	11	1	2	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	308					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ATTTCATAGTCGTACGAAAGA	0.443																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(922-924)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	99	94	96		924	-10.8	0	9	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC1A1	NM_004170.5		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		308/525	4576049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576049C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.924C>T	9.37:g.4576049C>T							p.V308V	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	9	1160	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	308					O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	c.924C>T	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540993	0.13250	0.0	2.33E-4	ENSG00000106688	ENST00000422398	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	5.2653	0.15595	0.1122:0.1072:0.1954:0.5853	.	.	.	.	C	71	.	.	R	+	1	0	SLC1A1	4566049	0.000000	0.05858	0.010000	0.14722	0.866000	0.49608	-5.152000	0.00146	-2.973000	0.00285	-0.768000	0.03414	CGT		0.443	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			60	282	0	0	0	1	0	60	282					T	4576049	C	T	4576049	2	4	79	1	0	0	0	0	0	0	0	1	14481	871	31	1		1	SLC1A1	9	4576049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289911	4576049	136637382	9856	20173											
SLC1A1	6505	broad.mit.edu	37	chr9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcacagttgaatgacctgGacttgggcattgggcagatc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	388					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAATGACCTGGACTTGGGCAT	0.488																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(1162-1164)Gac>Tac		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						203	180	188					9																	4576732		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576732G>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1162G>T	9.37:g.4576732G>T	ENSP00000262352:p.Asp388Tyr						p.D388Y	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	10	1398	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	388					O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.1162G>T	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614725|1.614725	0.28712|0.28712	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.60920|.	0.15|.	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.495607|.	0.23930|.	N|.	0.043142|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.30646|.	0.118|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.56958|.	D|.	0.05|.	.|.	10.1483|10.1483	0.42778|0.42778	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	388|.	P43005|.	EAA3_HUMAN|.	Y|V	388|150	ENSP00000262352:D388Y|.	ENSP00000262352:D388Y|.	D|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4566732|4566732	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.462000|0.462000	0.32619|0.32619	0.682000|0.682000	0.25335|0.25335	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.488	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			107	497	1	0	4.70087e-54	1	5.86491e-54	107	497					T	4576732	G	T	4576732	3	4	79	1	0	0	0	0	1	0	0	0	14481	1174	41	3	1200	3	SLC1A1	9	4576732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	4576732	136636699	9857	20174											
SLC1A1	6505	broad.mit.edu	37	chr9	4576765	4576765	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatcatcaccatcaggTggggcatggtgtcacattca	12	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1						D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CACCATCAGGTGGGGCATGGT	0.483																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.e10+2		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						154	137	143					9																	4576765		2203	4300	6503	SO:0001630	splice_region_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576765T>C		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1193+2T>C	9.37:g.4576765T>C								NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	10	1429	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)						O75587|Q5VZ24|Q8N199|Q9UEW2	Splice_Site	SNP	ENST00000262352.3	37		CCDS6452.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349111	0.82132	.	.	ENSG00000106688	ENST00000262352;ENST00000422398	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC1A1	4566765	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.962000	0.87912	2.097000	0.63578	0.533000	0.62120	.		0.483	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		Intron	70	379	0	0	0	1	0	70	379					C	4576765	T	C	4576765	5	2	79	1	0	0	0	0	0	0	1	0	14481	1710	59	4	1233	4	SLC1A1	9	4576765	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	4576765	136636666	9858	20175											
SLC1A1	6505	broad.mit.edu	37	chr9	4583161	4583161	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaccctgatcattgctgtCgactggctcctgtgagttgg	12	11	2	2	rs371758046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	439					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TCATTGCTGTCGACTGGCTCC	0.612																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(1315-1317)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	C		1,4405	2.1+/-5.4	0,1,2202	139	121	127		1317	-10.3	0.1	9		127	0,8600		0,0,4300	no	coding-synonymous	SLC1A1	NM_004170.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		439/525	4583161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4583161C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1317C>T	9.37:g.4583161C>T							p.V439V	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	11	1553	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	439					O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	c.1317C>T	CCDS6452.1																																																																																				0.612	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			97	529	0	0	0	1	0	97	529					T	4583161	C	T	4583161	2	4	79	1	0	0	0	0	0	0	0	1	14481	871	31	1		1	SLC1A1	9	4583161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	4583161	136630270	9859	20176											
CDC37L1	55664	broad.mit.edu	37	chr9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatccagatgtatagccatgGaattgaattggcttgccaaa	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	49	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(145-147)gGa>gAa		cell division cycle 37-like 1							86	83	84					9																	4684890		2203	4300	6503	SO:0001583	missense	55664					cytoplasm		g.chr9:4684890G>A	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.146G>A	9.37:g.4684890G>A	ENSP00000371278:p.Gly49Glu					CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E	p.G49E	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	2	348	+	all_hematologic(13;0.137)	Breast(48;0.238)	49			Self-association.		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	c.146G>A	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574054	0.28092	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.41065	1.01;1.02	5.86	3.05	0.35203	.	0.544665	0.20087	N	0.099523	T	0.22704	0.0548	N	0.14661	0.345	0.34232	D	0.676602	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	10	0.12103	T	0.63	-2.6289	10.5014	0.44808	0.2599:0.0:0.7401:0.0	.	49	Q7L3B6	CD37L_HUMAN	E	49	ENSP00000371282:G49E;ENSP00000371278:G49E	ENSP00000371278:G49E	G	+	2	0	CDC37L1	4674890	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.529000	0.45632	0.825000	0.34637	0.563000	0.77884	GGA		0.373	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		37	175	0	0	0	1	0	37	175					A	4684890	G	A	4684890	3	1	79	1	0	0	0	0	1	0	0	0	3078	1174	41	2	152	2	CDC37L1	9	4684890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101729	4684890	136528541	9860	20177											
AK3	50808	broad.mit.edu	37	chr9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcctgtggaagtgtcCttggaaaacctttataaagt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	92					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TGGAAGTGTCCTTGGAAAACC	0.418																																						ENST00000381809.3																			0				large_intestine(2)|lung(1)|ovary(2)	5						c.(280-282)aGg>aTg		adenylate kinase 3							51	46	48					9																	4719298		2203	4300	6503	SO:0001583	missense	50808				blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity	g.chr9:4719298C>A	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.281G>T	9.37:g.4719298C>A	ENSP00000371230:p.Arg94Met					AK3_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	p.R94M	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN		GBM - Glioblastoma multiforme(50;0.0302)	3	511	-	all_hematologic(13;0.137)	Breast(48;0.238)	94					B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	c.281G>T	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351724	0.82132	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	4.75	0.60458	.	0.043780	0.85682	D	0.000000	D	0.96648	0.8906	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98528	1.0626	10	0.87932	D	0	-19.0572	15.9198	0.79552	0.1364:0.8636:0.0:0.0	.	54;94	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	94;24;24;54	ENSP00000371230:R94M;ENSP00000352948:R24M;ENSP00000413933:R54M	ENSP00000352948:R24M	R	-	2	0	AK3	4709298	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.407000	0.80029	1.377000	0.46286	0.655000	0.94253	AGG		0.418	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		22	205	1	0	5.26018e-13	1	5.6673e-13	22	205					A	4719298	C	A	4719298	3	1	79	1	0	0	0	0	1	0	0	0	441	681	24	3	414	3	AK3	9	4719298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34408	4719298	136494133	9861	20178											
JAK2	3717	broad.mit.edu	37	chr9	5069022	5069022	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttataattaaacttatacagCgagaaaatgtcattgaatat	5	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTTATACAGCGAGAAAATGT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.e11-1		Janus kinase 2							52	58	56					9																	5069022		2203	4299	6502	SO:0001630	splice_region_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5069022C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1327-1C>T	9.37:g.5069022C>T						JAK2_ENST00000544510.1_Splice_Site_p.R294_splice|JAK2_ENST00000539801.1_Splice_Site_p.R443_splice	p.R443_splice	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1821	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	443			SH2; atypical.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.	O14636|O75297	Splice_Site	SNP	ENST00000381652.3	37	c.1326_splice	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.190073	0.98699	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	2.04	0.26737	.	0.488046	0.20689	N	0.087500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4355	14.0004	0.64431	0.3937:0.6063:0.0:0.0	.	.	.	.	X	443;443;294	.	.	R	+	1	2	JAK2	5059022	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	0.477000	0.22196	0.111000	0.17947	0.591000	0.81541	CGA		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		Nonsense_Mutation	28	213	0	0	0	1	0	28	213					T	5069022	C	T	5069022	5	4	79	1	0	0	0	0	0	0	1	0	7968	782	27	1	1361	1	JAK2	9	5069022	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349724	5069022	136144409	9862	20179											
JAK2	3717	broad.mit.edu	37	chr9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagcaagtatgatgaGcaagctttctcacaagcatt	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	602	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGTATGATGAGCAAGCTTTCT	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1804-1806)aGc>aTc		Janus kinase 2							111	124	119					9																	5073726		2203	4299	6502	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5073726G>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1805G>T	9.37:g.5073726G>T	ENSP00000371067:p.Ser602Ile					JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	14	2299	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	602			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1805G>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350840	0.82132	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83419	-1.72;-1.72;-1.72	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.038094	0.85682	D	0.000000	D	0.92453	0.7604	M	0.89163	3.01	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.93483	0.6829	10	0.87932	D	0	-13.7575	19.4075	0.94653	0.0:0.0:1.0:0.0	.	602	O60674	JAK2_HUMAN	I	602;602;453	ENSP00000440387:S602I;ENSP00000371067:S602I;ENSP00000443103:S453I	ENSP00000371067:S602I	S	+	2	0	JAK2	5063726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.583000	0.87209	0.591000	0.81541	AGC		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			94	644	1	0	1.66795e-42	1	2.03135e-42	94	644					T	5073726	G	T	5073726	3	4	79	1	0	0	0	0	1	0	0	0	7968	971	34	3	1851	3	JAK2	9	5073726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4704	5073726	136139705	9863	20180											
INSL6	11172	broad.mit.edu	37	chr9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttgtcttaccaaggggtGaatatccctttttatcctta	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	123					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328																																						ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(367-369)tCa>tTa		insulin-like 6							91	91	91					9																	5164187		2203	4298	6501	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5164187G>A	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.368C>T	9.37:g.5164187G>A	ENSP00000371054:p.Ser123Leu					INSL6_ENST00000510407.1_5'UTR	p.S123L	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	2	433	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	123					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.368C>T	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547171	0.13312	.	.	ENSG00000120210	ENST00000381641	T	0.48522	0.81	4.2	-0.793	0.10922	Insulin-like (3);	2.496800	0.01306	N	0.010478	T	0.23094	0.0558	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	0.3335	7.5577	0.27833	0.7562:0.0:0.2438:0.0	.	123	Q9Y581	INSL6_HUMAN	L	123	ENSP00000371054:S123L	ENSP00000371054:S123L	S	-	2	0	INSL6	5154187	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.126000	0.15769	-0.124000	0.11724	0.591000	0.81541	TCA		0.328	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		75	340	0	0	0	1	0	75	340					A	5164187	G	A	5164187	3	1	79	1	0	0	0	0	1	0	0	0	7800	1294	45	2	277	2	INSL6	9	5164187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90461	5164187	136049244	9864	20181											
RLN2	6019	broad.mit.edu	37	chr9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatggcaacatttattaGccaatgcactgtagagttgt	8	8	0	1	rs372740663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	168					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(502-504)gCt>gTt		relaxin 2							109	105	107					9																	5300153		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300153G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.503C>T	9.37:g.5300153G>A	ENSP00000371040:p.Ala168Val					RLN2_ENST00000308420.3_3'UTR	p.A168V	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	891	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	168					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.503C>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421148	0.11928	.	.	ENSG00000107014	ENST00000381627	D	0.84944	-1.92	3.24	-5.1	0.02911	Insulin-like (4);	2.252680	0.01724	N	0.028443	T	0.76212	0.3956	L	0.32530	0.975	0.09310	N	1	B	0.18968	0.032	B	0.20955	0.032	T	0.61426	-0.7065	10	0.51188	T	0.08	.	5.4884	0.16763	0.1364:0.2102:0.5552:0.0982	.	168	P04090	REL2_HUMAN	V	168	ENSP00000371040:A168V	ENSP00000371040:A168V	A	-	2	0	RLN2	5290153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.396000	0.01052	-1.078000	0.03117	-2.219000	0.00296	GCT		0.373	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		86	295	0	0	0	1	0	86	295					A	5300153	G	A	5300153	3	1	79	1	0	0	0	0	1	0	0	0	13442	971	34	2	58	2	RLN2	9	5300153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135966	5300153	135913278	9865	20182											
CD274	29126	broad.mit.edu	37	chr9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacacatttggaggagaCgtaatccagcattggaactt	10	7	0	2	rs369350813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000381573.4_Missense_Mutation_p.T176M|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	290					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	"PMBL, Hodgkin Lymphona, "																																	ENST00000381577.3				Dom	yes		9	9p24	29126	T	CD274 molecule			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(868-870)aCg>aTg		CD274 molecule		C	MET/THR	0,4406		0,0,2203	98	85	89		869	3.3	1	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD274	NM_014143.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	290/291	5467858	1,13005	2203	4300	6503	SO:0001583	missense	29126				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	g.chr9:5467858C>T	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17635	protein-coding gene	gene with protein product	"B7 homolog 1"	605402	"programmed cell death 1 ligand 1", "CD274 antigen"	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.869C>T	9.37:g.5467858C>T	ENSP00000370989:p.Thr290Met					CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	p.T290M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	7	955	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	290					B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	c.869C>T	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918869	0.52546	0.0	1.16E-4	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.37584	1.19;5.04	4.21	3.27	0.37495	.	.	.	.	.	T	0.48187	0.1486	L	0.44542	1.39	0.32055	N	0.596435	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.791	T	0.54977	-0.8212	9	0.87932	D	0	-29.1992	7.9256	0.29872	0.0:0.8728:0.0:0.1272	.	176;290	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	M	176;290	ENSP00000370985:T176M;ENSP00000370989:T290M	ENSP00000370985:T176M	T	+	2	0	CD274	5457858	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.939000	0.40213	1.010000	0.39314	0.491000	0.48974	ACG		0.423	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		36	228	0	0	0	1	0	36	228					T	5467858	C	T	5467858	3	4	79	1	0	0	0	0	1	0	0	0	3000	536	19	1	891	1	CD274	9	5467858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167705	5467858	135745573	9866	20183											
KIAA1432	57589	broad.mit.edu	37	chr9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaatatgatcgtgacaGgtggcttagcctggtggaat	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATCGTGACAGGTGGCTTAGC	0.284																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1624-1626)Ggt>Tgt		KIAA1432							84	86	85					9																	5754862		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5754862G>T																												ENST00000414202.2:c.1624G>T	9.37:g.5754862G>T	ENSP00000416696:p.Gly542Cys					KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C	p.G542C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1815	+		Acute lymphoblastic leukemia(23;0.154)	542						Missense_Mutation	SNP	ENST00000414202.2	37	c.1624G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556094|4.556094	0.86231|0.86231	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83312|0.83312	0.5227|0.5227	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|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|D	0.85636|0.85636	0.1273|0.1273	10|5	0.56958|.	D|.	0.05|.	-16.3166|-16.3166	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;463;542;542|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	C|M	542;542;463;463;426|433	ENSP00000251879:G542C;ENSP00000416696:G542C;ENSP00000370943:G463C;ENSP00000402240:G463C|.	ENSP00000251879:G542C|.	G|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5744862|5744862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	GGT|AGG		0.284	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			34	383	1	0	8.73648e-17	1	9.61379e-17	34	383					T	5754862	G	T	5754862	3	4	79	1	0	0	0	0	1	0	0	0	8263	1000	35	3	1441	3	KIAA1432	9	5754862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287004	5754862	135458569	9867	20184											
KIAA1432	57589	broad.mit.edu	37	chr9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggatgggacttacgaCtgttctgtgtcctaacagtg	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACTTACGACTGTTCTGTGT	0.488																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(4255-4257)gaC>gaA		KIAA1432							75	63	67					9																	5774231		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5774231C>A																												ENST00000414202.2:c.4257C>A	9.37:g.5774231C>A	ENSP00000416696:p.Asp1419Glu					KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	p.D1419E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	26	4448	+		Acute lymphoblastic leukemia(23;0.154)	1419						Missense_Mutation	SNP	ENST00000414202.2	37	c.4257C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100027|3.100027	0.56183|0.56183	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50650|0.50650	0.1628|0.1628	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.58970|.	0.984;0.984|.	D;D|.	0.70016|.	0.967;0.967|.	T|T	0.45323|0.45323	-0.9269|-0.9269	9|5	0.72032|.	D|.	0.01|.	-18.8188|-18.8188	10.5742|10.5742	0.45217|0.45217	0.0:0.8536:0.0:0.1464|0.0:0.8536:0.0:0.1464	.|.	1303;1419|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	E|M	1419;1340;1303|1311	.|.	ENSP00000416696:D1419E|.	D|L	+|+	3|1	2|2	KIAA1432|KIAA1432	5764231|5764231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.787000|2.787000	0.47798|0.47798	1.413000|1.413000	0.46997|0.46997	0.462000|0.462000	0.41574|0.41574	GAC|CTG		0.488	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			54	203	1	0	1.59911e-31	1	1.88313e-31	54	203					A	5774231	C	A	5774231	3	1	79	1	0	0	0	0	1	0	0	0	8263	564	20	3	4192	3	KIAA1432	9	5774231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19369	5774231	135439200	9868	20185											
KIAA2026	158358	broad.mit.edu	37	chr9	5920791	5920791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcaaagctgatgttaaAcatttaggagacactactgg	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1735										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGATGTTAAACATTTAGGAG	0.423																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5203-5205)tgT>tgC		KIAA2026							148	143	145					9																	5920791		1923	4129	6052	SO:0001819	synonymous_variant	158358							g.chr9:5920791A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5205T>C	9.37:g.5920791A>G						KIAA2026_ENST00000381461.2_Silent_p.C1705C	p.C1735C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5204	-		Acute lymphoblastic leukemia(23;0.158)	1735					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.5205T>C																																																																																					0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		116	457	0	0	0	1	0	116	457					G	5920791	A	G	5920791	2	3	79	1	0	0	0	0	0	0	0	1	8300	41	2	4		4	KIAA2026	9	5920791	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146560	5920791	135292640	9869	20186											
KIAA2026	158358	broad.mit.edu	37	chr9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccaggatgcggtagcCctgctgtagctcgtaggtca	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	82										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCGGTAGCCCTGCTGTAGC	0.662																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(244-246)Ggc>Tgc		KIAA2026							28	35	33					9																	6007544		2080	4209	6289	SO:0001583	missense	158358							g.chr9:6007544C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.244G>T	9.37:g.6007544C>A	ENSP00000382815:p.Gly82Cys					KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C	p.G82C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	243	-		Acute lymphoblastic leukemia(23;0.158)	82					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.244G>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749993	0.69533	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	Bromodomain (1);	.	.	.	.	T	0.53029	0.1771	N	0.12746	0.255	0.41630	D	0.989012	D	0.89917	1.0	D	0.72075	0.976	T	0.54410	-0.8298	8	0.27785	T	0.31	.	15.1706	0.72869	0.0:1.0:0.0:0.0	.	82	Q5HYC2	K2026_HUMAN	C	82	.	ENSP00000370870:G82C	G	-	1	0	KIAA2026	5997544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.081000	0.62600	0.491000	0.48974	GGC		0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		29	158	1	0	9.39395e-14	1	1.01619e-13	29	158					A	6007544	C	A	6007544	3	1	79	1	0	0	0	0	1	0	0	0	8300	623	22	3	6099	3	KIAA2026	9	6007544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86753	6007544	135205887	9870	20187											
RANBP6	26953	broad.mit.edu	37	chr9	6014119	6014119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcaccaagacggaatgtaGatttttcaccatactatcca	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014119G>T	ENST00000259569.5	-	1	1499	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	497					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACGGAATGTAGATTTTTCACC	0.383																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1489-1491)Cta>Ata		RAN binding protein 6							49	44	46					9																	6014119		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014119G>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1489C>A	9.37:g.6014119G>T	ENSP00000259569:p.Leu497Ile					RANBP6_ENST00000485372.1_5'UTR	p.L497I	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1499	-		Acute lymphoblastic leukemia(23;0.158)	497					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1489C>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990396	0.35131	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	3.89	1.9	0.25705	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.30947	0.0781	M	0.83953	2.67	0.58432	D	0.999999	P;P	0.40553	0.53;0.721	B;P	0.44447	0.333;0.45	T	0.07947	-1.0746	10	0.54805	T	0.06	-4.0108	2.0615	0.03593	0.2887:0.0:0.4467:0.2646	.	85;497	B4DTX6;O60518	.;RNBP6_HUMAN	I	497	ENSP00000259569:L497I	ENSP00000259569:L497I	L	-	1	2	RANBP6	6004119	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	2.717000	0.47227	0.521000	0.28445	0.650000	0.86243	CTA		0.383	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		6	166	1	0	3.59834e-05	1	3.67436e-05	6	166					T	6014119	G	T	6014119	3	4	79	1	0	0	0	0	1	0	0	0	13081	933	33	3	1832	3	RANBP6	9	6014119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6575	6014119	135199312	9871	20188											
RANBP6	26953	broad.mit.edu	37	chr9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggaaattaggtgcaaaatCtgtagccatctgtccaagtg	10	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	437					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGTGCAAAATCTGTAGCCATC	0.418																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1309-1311)Gat>Tat		RAN binding protein 6							67	68	68					9																	6014299		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014299C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1309G>T	9.37:g.6014299C>A	ENSP00000259569:p.Asp437Tyr					RANBP6_ENST00000485372.1_5'UTR	p.D437Y	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1319	-		Acute lymphoblastic leukemia(23;0.158)	437					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1309G>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093604	0.56075	.	.	ENSG00000137040	ENST00000259569	T	0.68025	-0.3	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.096988	0.64402	D	0.000002	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83086	-0.0135	10	0.48119	T	0.1	-12.605	14.8843	0.70555	0.0:1.0:0.0:0.0	.	25;437	B4DTX6;O60518	.;RNBP6_HUMAN	Y	437	ENSP00000259569:D437Y	ENSP00000259569:D437Y	D	-	1	0	RANBP6	6004299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.634000	0.89283	0.650000	0.86243	GAT		0.418	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	222	1	0	3.07112e-06	1	3.16074e-06	11	222					A	6014299	C	A	6014299	3	1	79	1	0	0	0	0	1	0	0	0	13081	913	32	3	2012	3	RANBP6	9	6014299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	6014299	135199132	9872	20189											
IL33	90865	broad.mit.edu	37	chr9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatttccacagcaaagtgGaagaacacagcaagcaaagc	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	17	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(49-51)tgG>tgA		interleukin 33							90	88	88					9																	6241745		2203	4300	6503	SO:0001587	stop_gained	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6241745G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.51G>A	9.37:g.6241745G>A	ENSP00000370842:p.Trp17*					IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*	p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	1	64	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	17					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Nonsense_Mutation	SNP	ENST00000381434.3	37	c.51G>A	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678039	0.47886	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	.	.	.	4.26	1.3	0.21679	.	2.375840	0.01455	N	0.015626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.6912	4.6084	0.12389	0.2064:0.1902:0.6034:0.0	.	.	.	.	X	17	.	ENSP00000370842:W17X	W	+	3	0	IL33	6231745	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.121000	0.10643	0.299000	0.22661	0.485000	0.47835	TGG		0.313	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		24	124	0	0	0	1	0	24	124					A	6241745	G	A	6241745	4	1	79	1	0	0	0	0	0	1	0	0	7723	1183	41	2	53	2	IL33	9	6241745	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227446	6241745	134971686	9873	20190											
IL33	90865	broad.mit.edu	37	chr9	6250583	6250583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagaaaccaccaaaagGccttcactgaaaacaggtaa	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Silent_p.R67R	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	67	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(199-201)agG>agA		interleukin 33							87	84	85					9																	6250583		2203	4300	6503	SO:0001819	synonymous_variant	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6250583G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.201G>A	9.37:g.6250583G>A						IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Silent_p.R67R	p.R67R	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	2	214	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	67					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Silent	SNP	ENST00000381434.3	37	c.201G>A	CCDS6468.1																																																																																				0.408	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		68	233	0	0	0	1	0	68	233					A	6250583	G	A	6250583	2	1	79	1	0	0	0	0	0	0	0	1	7723	1194	42	2		2	IL33	9	6250583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8838	6250583	134962848	9874	20191											
UHRF2	115426	broad.mit.edu	37	chr9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaatgtggcttatcatAtttactgtctgaatccacct	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	371					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(1111-1113)Att>Gtt		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							204	182	189					9																	6477759		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6477759A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1111A>G	9.37:g.6477759A>G	ENSP00000276893:p.Ile371Val						p.I371V	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	6	1279	+		Acute lymphoblastic leukemia(23;0.158)	371					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.1111A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973270	0.74246	.	.	ENSG00000147854	ENST00000276893	T	0.56941	0.43	4.69	3.55	0.40652	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056525	0.64402	N	0.000002	T	0.60958	0.2309	M	0.64997	1.995	0.80722	D	1	B;P	0.46859	0.418;0.885	B;P	0.55222	0.326;0.771	T	0.59306	-0.7479	10	0.48119	T	0.1	-8.4574	10.0363	0.42131	0.92:0.0:0.08:0.0	.	148;371	B3KV82;Q96PU4	.;UHRF2_HUMAN	V	371	ENSP00000276893:I371V	ENSP00000276893:I371V	I	+	1	0	UHRF2	6467759	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.352000	0.79404	0.676000	0.31285	-0.333000	0.08304	ATT		0.393	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		27	459	0	0	0	1	0	27	459					G	6477759	A	G	6477759	3	3	79	1	0	0	0	0	1	0	0	0	17024	449	16	4	1133	4	UHRF2	9	6477759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227176	6477759	134735672	9875	20192											
GLDC	2731	broad.mit.edu	37	chr9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagatctttttcattgActgtttcatcaagagaaata	6	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	476					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTTTTCATTGACTGTTTCATC	0.378																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1426-1428)gTc>gCc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						87	80	83					9																	6592198		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592198A>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1427T>C	9.37:g.6592198A>G	ENSP00000370737:p.Val476Ala						p.V476A	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	11	1577	-		Acute lymphoblastic leukemia(23;0.161)	476					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1427T>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697935	0.88830	.	.	ENSG00000178445	ENST00000321612	D	0.95690	-3.78	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.133319	0.49916	D	0.000129	D	0.96781	0.8949	M	0.78049	2.395	0.80722	D	1	P	0.52692	0.955	P	0.55749	0.783	D	0.97172	0.9845	10	0.66056	D	0.02	-24.8041	14.9935	0.71412	1.0:0.0:0.0:0.0	.	476	P23378	GCSP_HUMAN	A	476	ENSP00000370737:V476A	ENSP00000370737:V476A	V	-	2	0	GLDC	6582198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.244000	0.89823	1.933000	0.56026	0.459000	0.35465	GTC		0.378	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		64	213	0	0	0	1	0	64	213					G	6592198	A	G	6592198	3	3	79	1	0	0	0	0	1	0	0	0	6462	275	10	4	1695	4	GLDC	9	6592198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114439	6592198	134621233	9876	20193											
C9orf123	90871	broad.mit.edu	37	chr9	7799610	7799610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaggtcttcaacaggCggtgttctgctggggaggtc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799610C>T	ENST00000358227.4	-	1	457	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	42						integral component of membrane (GO:0016021)											CTTCAACAGGCGGTGTTCTGC	0.662																																						ENST00000358227.4																			0				lung(1)	1						c.(124-126)cGc>cAc									35	39	37					9																	7799610		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:7799610C>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 123"	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.125G>A	9.37:g.7799610C>T	ENSP00000350961:p.Arg42His					C9orf123_ENST00000484082.1_Intron	p.R42H	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	457	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	42					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.125G>A	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.844786	0.32606	.	.	ENSG00000137038	ENST00000358227	T	0.44881	0.91	5.34	-2.99	0.05497	.	2.017540	0.02346	N	0.075365	T	0.27098	0.0664	L	0.36672	1.1	0.09310	N	1	P;P	0.51791	0.899;0.948	B;B	0.36030	0.216;0.216	T	0.34925	-0.9809	10	0.34782	T	0.22	-28.4694	5.3663	0.16115	0.0676:0.415:0.1997:0.3176	.	42;42	Q96GE9-2;Q96GE9	.;CI123_HUMAN	H	42	ENSP00000350961:R42H	ENSP00000350961:R42H	R	-	2	0	C9orf123	7789610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.195000	0.09546	-0.638000	0.05509	-2.040000	0.00418	CGC		0.662	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		65	265	0	0	0	1	0	65	265					T	7799610	C	T	7799610	3	4	79	1	0	0	0	0	1	0	0	0	2460	768	27	1	221	1	C9orf123	9	7799610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1207412	7799610	133413821	9877	20194											
C9orf123	90871	broad.mit.edu	37	chr9	7799703	7799703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgggaggcgcagtgatatagGactcaaaaggctgggacaac	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799703G>T	ENST00000358227.4	-	1	364	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	11						integral component of membrane (GO:0016021)											AGTGATATAGGACTCAAAAGG	0.642																																						ENST00000358227.4																			0				lung(1)	1						c.(31-33)tCc>tAc									24	25	24					9																	7799703		2203	4299	6502	SO:0001583	missense	0					integral to membrane		g.chr9:7799703G>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 123"	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.32C>A	9.37:g.7799703G>T	ENSP00000350961:p.Ser11Tyr					C9orf123_ENST00000484082.1_Intron	p.S11Y	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	364	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	11					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.32C>A	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726697	0.30593	.	.	ENSG00000137038	ENST00000358227	T	0.47177	0.85	4.48	-0.962	0.10333	.	1.000120	0.08080	N	1.000000	T	0.31482	0.0798	N	0.22421	0.69	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.31337	0.128;0.128	T	0.24190	-1.0167	10	0.48119	T	0.1	-5.135	7.4557	0.27266	0.1703:0.3336:0.4961:0.0	.	11;11	Q96GE9-2;Q96GE9	.;CI123_HUMAN	Y	11	ENSP00000350961:S11Y	ENSP00000350961:S11Y	S	-	2	0	C9orf123	7789703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.499000	0.00968	-0.388000	0.07797	-0.829000	0.03081	TCC		0.642	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		27	175	1	0	5.77227e-19	1	6.42407e-19	27	175					T	7799703	G	T	7799703	3	4	79	1	0	0	0	0	1	0	0	0	2460	1174	41	3	314	3	C9orf123	9	7799703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	7799703	133413728	9878	20195											
PTPRD	5789	broad.mit.edu	37	chr9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagggcccctgggtagCgatgtaggctttctgttgtc	14	10	1	0	rs200354236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5146-5148)Gct>Act		protein tyrosine phosphatase, receptor type, D							104	94	97					9																	8340450		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340450C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5146G>A	9.37:g.8340450C>T	ENSP00000370593:p.Ala1716Thr	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T	p.A1716T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	39	5689	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1716			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5146G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855189	0.91355	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.986;0.986;0.986;0.986;0.98;0.977;0.994;0.999;0.928	D	0.96522	0.9386	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1309;1300;1309;1310;1306;1306;1703;1716;1716	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1716;1716;1703;1694;1310;1309;1306;1306;1187;1716;1309;1309	ENSP00000370593:A1716T;ENSP00000348812:A1716T;ENSP00000353187:A1703T;ENSP00000351293:A1694T;ENSP00000347373:A1310T;ENSP00000380741:A1309T;ENSP00000380735:A1306T;ENSP00000440515:A1306T;ENSP00000438164:A1716T;ENSP00000417093:A1309T;ENSP00000380731:A1309T	.	A	-	1	0	PTPRD	8330450	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCT		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	196	0	0	0	1	0	24	196					T	8340450	C	T	8340450	3	4	79	1	0	0	0	0	1	0	0	0	12849	768	27	1	612	1	PTPRD	9	8340450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540747	8340450	132872981	9879	20196											
PTPRD	5789	broad.mit.edu	37	chr9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtaaagtgcaaatgttCgaacacaatatgtggccagc	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1496	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCAAATGTTCGAACACAATA	0.418										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4486-4488)cGa>cAa		protein tyrosine phosphatase, receptor type, D							191	151	165					9																	8376626		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8376626C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4487G>A	9.37:g.8376626C>T	ENSP00000370593:p.Arg1496Gln	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q	p.R1496Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	35	5030	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1496			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4487G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200664	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115754	0.56097	D	0.000037	T	0.76321	0.3971	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.91635	0.974;0.974;0.974;0.974;0.991;0.88;0.995;0.934;0.999	D	0.85504	0.1193	9	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	1089;1080;1089;1090;1086;1086;1483;1496;1496	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1496;1496;1483;1474;1090;1089;1086;1086;967;1496;1089;1089	ENSP00000370593:R1496Q;ENSP00000348812:R1496Q;ENSP00000353187:R1483Q;ENSP00000351293:R1474Q;ENSP00000347373:R1090Q;ENSP00000380741:R1089Q;ENSP00000380735:R1086Q;ENSP00000440515:R1086Q;ENSP00000438164:R1496Q;ENSP00000417093:R1089Q;ENSP00000380731:R1089Q	.	R	-	2	0	PTPRD	8366626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.419000	0.80179	2.633000	0.89246	0.591000	0.81541	CGA		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			56	228	0	0	0	1	0	56	228					T	8376626	C	T	8376626	3	4	79	1	0	0	0	0	1	0	0	0	12849	884	31	1	1287	1	PTPRD	9	8376626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36176	8376626	132836805	9880	20197											
PTPRD	5789	broad.mit.edu	37	chr9	8636735	8636735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactttctttccttttttGttccagacaattttaggtct	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	58	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCTTTTTTGTTCCAGACAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(172-174)aaC>aaT		protein tyrosine phosphatase, receptor type, D							122	116	118					9																	8636735		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636735G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.174C>T	9.37:g.8636735G>A		TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N	p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	717	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	58			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.174C>T	CCDS43786.1																																																																																				0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			96	532	0	0	0	1	0	96	532					A	8636735	G	A	8636735	2	1	79	1	0	0	0	0	0	0	0	1	12849	1368	48	2		2	PTPRD	9	8636735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260109	8636735	132576696	9881	20198											
PTPRD	5789	broad.mit.edu	37	chr9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgttcgtgtaaaccttgGaggtgctgaaataaaaaata	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	24	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAACCTTGGAGGTGCTGAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(70-72)Cca>Tca		protein tyrosine phosphatase, receptor type, D							60	63	62					9																	8636839		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636839G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.70C>T	9.37:g.8636839G>A	ENSP00000370593:p.Pro24Ser	TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S	p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	613	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	24			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.70C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013073	0.93346	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;0.997;0.999;1.0;0.997;1.0	D	0.96334	0.9246	9	.	.	.	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	24;24;24;24;24;24;24;24;24;24	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	24	ENSP00000370593:P24S;ENSP00000348812:P24S;ENSP00000353187:P24S;ENSP00000351293:P24S;ENSP00000347373:P24S;ENSP00000380741:P24S;ENSP00000380735:P24S;ENSP00000440515:P24S;ENSP00000438164:P24S;ENSP00000417093:P24S;ENSP00000380731:P24S;ENSP00000417661:P24S;ENSP00000417890:P24S	.	P	-	1	0	PTPRD	8626839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.764000	0.94973	0.650000	0.86243	CCA		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			56	340	0	0	0	1	0	56	340					A	8636839	G	A	8636839	3	1	79	1	0	0	0	0	1	0	0	0	12849	1174	41	2	5872	2	PTPRD	9	8636839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	8636839	132576592	9882	20199											
TYRP1	7306	broad.mit.edu	37	chr9	12709023	12709023	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgccatagcagtagttggCgctttgttactggttgcact	11	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.G195G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	485					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CAGTAGTTGGCGCTTTGTTAC	0.403									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1453-1455)ggC>ggA		tyrosinase-related protein 1							189	175	180					9																	12709023		2203	4300	6503	SO:0001819	synonymous_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12709023C>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1455C>A	9.37:g.12709023C>A						TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Silent_p.G195G|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA	p.G485G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	8	1584	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	485					P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	c.1455C>A	CCDS34990.1																																																																																				0.403	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	284	1	0	1.58986e-06	1	1.64048e-06	10	284					A	12709023	C	A	12709023	2	1	79	1	0	0	0	0	0	0	0	1	16870	755	27	3		3	TYRP1	9	12709023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4072184	12709023	128504408	9883	20200											
C9orf150	286343	broad.mit.edu	37	chr9	12821638	12821638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggacacgttggcggatgAtgtcccaggccatcagaccc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12821638A>G	ENST00000319264.3	+	2	1261	c.566A>G	c.(565-567)gAt>gGt	p.D189G		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	192																	TTGGCGGATGATGTCCCAGGC	0.532																																						ENST00000319264.3																			0											c.(565-567)gAt>gGt		leucine rich adaptor protein 1-like							190	163	172					9																	12821638		2203	4300	6503	SO:0001583	missense	286343							g.chr9:12821638A>G	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.566A>G	9.37:g.12821638A>G	ENSP00000321026:p.Asp189Gly						p.D189G	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			2	1261	+			192					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.566A>G	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955867	0.73902	.	.	ENSG00000153714	ENST00000319264	T	0.52057	0.68	5.49	5.49	0.81192	.	0.529823	0.19248	N	0.119013	T	0.58581	0.2132	L	0.42245	1.32	0.45621	D	0.998556	D	0.89917	1.0	D	0.71870	0.975	T	0.59380	-0.7465	10	0.59425	D	0.04	.	10.7702	0.46319	0.8584:0.0:0.0:0.1416	.	192	Q8IV03	CI150_HUMAN	G	189	ENSP00000321026:D189G	ENSP00000321026:D189G	D	+	2	0	C9orf150	12811638	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.982000	0.76173	2.084000	0.62774	0.460000	0.39030	GAT		0.532	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		152	547	0	0	0	1	0	152	547					G	12821638	A	G	12821638	3	3	79	1	0	0	0	0	1	0	0	0	2469	333	12	4	572	4	C9orf150	9	12821638	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112615	12821638	128391793	9884	20201											
MPDZ	8777	broad.mit.edu	37	chr9	13125244	13125244	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actccggttctggggagccaGactgtgggaccatcagagac	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000319217.7	-	35	5025	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1593					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGGGAGCCAGACTGTGGGAC	0.537																																						ENST00000541093.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61								multiple PDZ domain protein							115	113	114					9																	13125244		1902	4118	6020	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13125244G>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4778C>A	9.37:g.13125244G>T	ENSP00000320006:p.Ser1593Tyr					MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000319217.7_Missense_Mutation_p.S1593Y				O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	0	484	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Translation_Start_Site	SNP	ENST00000319217.7	37			.	.	.	.	.	.	.	.	.	.	G	16.97	3.268140	0.59540	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.17213	2.7;2.67;2.67;2.29;2.6;2.63;2.68;2.72;2.7;2.71	4.93	4.93	0.64822	.	0.369947	0.19770	N	0.106464	T	0.28300	0.0699	L	0.38175	1.15	0.80722	D	1	P;B;B;P;D;P;B	0.61697	0.828;0.008;0.356;0.892;0.99;0.892;0.228	P;B;B;P;P;P;B	0.56700	0.521;0.023;0.187;0.714;0.804;0.714;0.181	T	0.00964	-1.1498	10	0.42905	T	0.14	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	1560;452;298;1560;1473;1593;1593	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	Y	1593;1593;1593;162;529;452;1560;1560;1593;1473;1607	ENSP00000320006:S1593Y;ENSP00000439807:S1593Y;ENSP00000370410:S1593Y;ENSP00000415964:S162Y;ENSP00000444230:S529Y;ENSP00000444717:S452Y;ENSP00000444151:S1560Y;ENSP00000415208:S1560Y;ENSP00000370403:S1593Y;ENSP00000446358:S1607Y	ENSP00000320006:S1593Y	S	-	2	0	MPDZ	13115244	0.391000	0.25221	0.007000	0.13788	0.398000	0.30690	4.342000	0.59341	2.564000	0.86499	0.650000	0.86243	TCT		0.537	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		74	366	1	0	8.06533e-24	1	9.18926e-24	74	366					T	13125244	G	T	13125244	3	4	79	1	0	0	0	0	1	0	0	0	9763	942	33	3	1395	3	MPDZ	9	13125244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303606	13125244	128088187	9885	20202											
MPDZ	8777	broad.mit.edu	37	chr9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgctaaaaccaagtcCtttgctccctttctccagct	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	709	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAACCAAGTCCTTTGCTCCCT	0.413																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2125-2127)Gga>Tga		multiple PDZ domain protein							74	69	71					9																	13190142		1960	4155	6115	SO:0001587	stop_gained	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190142C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2125G>T	9.37:g.13190142C>A	ENSP00000320006:p.Gly709*					MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*	p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2372	-			709			PDZ 5.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	ENST00000319217.7	37	c.2125G>T		.	.	.	.	.	.	.	.	.	.	C	45	11.594559	0.99580	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.83	5.83	0.93111	.	0.000000	0.42821	D	0.000653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	709;709;709;709;709;709;659;709	.	ENSP00000320006:G709X	G	-	1	0	MPDZ	13180142	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GGA		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		12	117	1	0	0.000978159	1	0.000988919	12	117					A	13190142	C	A	13190142	4	1	79	1	0	0	0	0	0	1	0	0	9763	690	24	3	4124	3	MPDZ	9	13190142	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64898	13190142	128023289	9886	20203											
MPDZ	8777	broad.mit.edu	37	chr9	13247772	13247772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttggtttgcaagcgCtctgctgcatgcagggcccg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13247772C>T	ENST00000319217.7	-	3	292	c.45G>A	c.(43-45)gaG>gaA	p.E15E	MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000546205.1_Silent_p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	15	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTGCAAGCGCTCTGCTGCAT	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(43-45)gaG>gaA		multiple PDZ domain protein							250	238	242					9																	13247772		1918	4134	6052	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13247772C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.45G>A	9.37:g.13247772C>T						MPDZ_ENST00000546205.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E	p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	3	292	-			15			L27.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.45G>A																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		19	1176	0	0	0	1	0	19	1176					T	13247772	C	T	13247772	2	4	79	1	0	0	0	0	0	0	0	1	9763	796	28	2		2	MPDZ	9	13247772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57630	13247772	127965659	9887	20204											
NFIB	4781	broad.mit.edu	37	chr9	14307409	14307409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcctttgacattcgCttctcatgctttttaaagta	4	10	3	1	rs545983563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	47					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTGACATTCGCTTCTCATGCT	0.458			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(139-141)aaG>aaA		nuclear factor I/B							137	127	131					9																	14307409		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307409C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.141G>A	9.37:g.14307409C>T						NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K	p.K47K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	614	-			47					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.141G>A	CCDS6474.1																																																																																				0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		63	252	0	0	0	1	0	63	252					T	14307409	C	T	14307409	2	4	79	1	0	0	0	0	0	0	0	1	10413	796	28	2		2	NFIB	9	14307409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1059637	14307409	126906022	9888	20205											
CER1	9350	broad.mit.edu	37	chr9	14720268	14720268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacttggcaggcaaacaGtgagagcaggaggtatggga	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	208	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(622-624)caC>caT		cerberus 1, DAN family BMP antagonist							137	110	119					9																	14720268		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720268G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.624C>T	9.37:g.14720268G>A							p.H208H	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	668	-			208			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.624C>T	CCDS6476.1																																																																																				0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		49	242	0	0	0	1	0	49	242					A	14720268	G	A	14720268	2	1	79	1	0	0	0	0	0	0	0	1	3274	1020	36	2		2	CER1	9	14720268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412859	14720268	126493163	9889	20206											
CER1	9350	broad.mit.edu	37	chr9	14720322	14720322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaatgaacagacccGcatttcccaaagcaaaggtt	8	11	0	2	rs533058950		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720322G>A	ENST00000380911.3	-	2	614	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	190	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAGACCCGCATTTCCCAA	0.458																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(568-570)tgC>tgT		cerberus 1, DAN family BMP antagonist							88	75	80					9																	14720322		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720322G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.570C>T	9.37:g.14720322G>A							p.C190C	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	614	-			190			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.570C>T	CCDS6476.1																																																																																				0.458	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		44	179	0	0	0	1	0	44	179					A	14720322	G	A	14720322	2	1	79	1	0	0	0	0	0	0	0	1	3274	1079	38	1		1	CER1	9	14720322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	14720322	126493109	9890	20207											
FREM1	158326	broad.mit.edu	37	chr9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatctgcttgaggcagttCtgccactttgattgtctttt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380880.3	-	33	6736	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1985					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGCAGTTCTGCCACTTTG	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5956-5958)Gaa>Taa		FRAS1 related extracellular matrix 1							222	207	212					9																	14747318		1943	4155	6098	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14747318C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5953G>T	9.37:g.14747318C>A	ENSP00000370262:p.Glu1985*					FREM1_ENST00000380880.3_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*	p.E1986*			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	34	6771	-			1985					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.5956G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	50	16.906635	0.99874	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.64	4.73	0.59995	.	0.592171	0.18006	N	0.154748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2242	14.7377	0.69427	0.0:0.8557:0.1443:0.0	.	.	.	.	X	1986;1985;521;1985	.	ENSP00000370262:E1985X	E	-	1	0	FREM1	14737318	0.998000	0.40836	0.161000	0.22692	0.466000	0.32739	3.625000	0.54238	1.340000	0.45581	0.655000	0.94253	GAA		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		91	550	1	0	2.68325e-40	1	3.25214e-40	91	550					A	14747318	C	A	14747318	4	1	79	1	0	0	0	0	0	1	0	0	6071	922	32	3	606	3	FREM1	9	14747318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26996	14747318	126466113	9891	20208											
FREM1	158326	broad.mit.edu	37	chr9	14819312	14819312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcagctccacccttccGtgcagaggcaattcccgcag	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380880.3	-	14	3249	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_ENST00000422223.2_Silent_p.H822H|FREM1_ENST00000380881.4_Silent_p.H823H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	822					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACCCTTCCGTGCAGAGGCA	0.458																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2467-2469)caC>caT		FRAS1 related extracellular matrix 1							105	102	103					9																	14819312		1926	4131	6057	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14819312G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2466C>T	9.37:g.14819312G>A						FREM1_ENST00000380880.3_Silent_p.H822H|FREM1_ENST00000422223.2_Silent_p.H822H	p.H823H			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	15	3284	-			822					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2469C>T	CCDS47952.1																																																																																				0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		48	180	0	0	0	1	0	48	180					A	14819312	G	A	14819312	2	1	79	1	0	0	0	0	0	0	0	1	6071	1136	40	1		1	FREM1	9	14819312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71994	14819312	126394119	9892	20209											
FREM1	158326	broad.mit.edu	37	chr9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgattccattaaacaaatCcctctgaaggaagccatgga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380880.3	-	10	2551	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y|FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	590					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTAAACAAATCCCTCTGAAGG	0.388																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1771-1773)Gat>Tat		FRAS1 related extracellular matrix 1							136	126	129					9																	14841558		1851	4098	5949	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14841558C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1768G>T	9.37:g.14841558C>A	ENSP00000370262:p.Asp590Tyr					FREM1_ENST00000380880.3_Missense_Mutation_p.D590Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y	p.D591Y			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2586	-			590					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1771G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733208	0.89482	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54866	0.55;0.55;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	10	0.87932	D	0	-17.8822	20.5568	0.99304	0.0:1.0:0.0:0.0	.	590	Q5H8C1	FREM1_HUMAN	Y	591;590;590	ENSP00000370263:D591Y;ENSP00000412940:D590Y;ENSP00000370262:D590Y	ENSP00000370257:D593Y	D	-	1	0	FREM1	14831558	1.000000	0.71417	0.767000	0.31495	0.938000	0.57974	7.417000	0.80156	2.861000	0.98227	0.655000	0.94253	GAT		0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		57	451	1	0	6.20203e-27	1	7.16519e-27	57	451					A	14841558	C	A	14841558	3	1	79	1	0	0	0	0	1	0	0	0	6071	855	30	3	4933	3	FREM1	9	14841558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22246	14841558	126371873	9893	20210											
FREM1	158326	broad.mit.edu	37	chr9	14842621	14842621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatagcgaacaactccagcCtggaggtcagccacggtgaa	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	ENST00000380880.3	-	9	2214	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H|FREM1_ENST00000380881.4_Missense_Mutation_p.Q478H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	477					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAACTCCAGCCTGGAGGTCAG	0.542																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1432-1434)caG>caT		FRAS1 related extracellular matrix 1							84	88	86					9																	14842621		2087	4208	6295	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842621C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1431G>T	9.37:g.14842621C>A	ENSP00000370262:p.Gln477His					FREM1_ENST00000380880.3_Missense_Mutation_p.Q477H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H	p.Q478H			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2249	-			477					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1434G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476743	0.63849	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26810	1.71;1.71;1.71	5.63	1.72	0.24424	.	0.104852	0.64402	D	0.000003	T	0.24236	0.0587	N	0.21373	0.66	0.44619	D	0.997598	D	0.54397	0.966	P	0.52554	0.702	T	0.01111	-1.1448	10	0.45353	T	0.12	-11.4335	10.6614	0.45704	0.0:0.745:0.0:0.2549	.	477	Q5H8C1	FREM1_HUMAN	H	478;477;477	ENSP00000370263:Q478H;ENSP00000412940:Q477H;ENSP00000370262:Q477H	ENSP00000370257:Q480H	Q	-	3	2	FREM1	14832621	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.425000	0.34859	0.125000	0.18397	-0.136000	0.14681	CAG		0.542	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		13	351	1	0	0.000151284	1	0.000153739	13	351					A	14842621	C	A	14842621	3	1	79	1	0	0	0	0	1	0	0	0	6071	680	24	3	5274	3	FREM1	9	14842621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1063	14842621	126370810	9894	20211											
FREM1	158326	broad.mit.edu	37	chr9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatctgcatgtcactgagatCtttccaggtgaatgaggaga	12	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380880.3	-	6	1867	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	362					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACTGAGATCTTTCCAGGTG	0.493																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1087-1089)Gat>Tat		FRAS1 related extracellular matrix 1							106	105	106					9																	14851350		2090	4217	6307	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14851350C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1084G>T	9.37:g.14851350C>A	ENSP00000370262:p.Asp362Tyr					FREM1_ENST00000380880.3_Missense_Mutation_p.D362Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y	p.D363Y			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	1902	-			362					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1087G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544991	0.86022	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.69;1.68;1.68	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88906	2.99	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.63808	-0.6553	10	0.87932	D	0	-20.9343	14.6418	0.68732	0.0:0.9309:0.0:0.0691	.	362	Q5H8C1	FREM1_HUMAN	Y	363;362;362	ENSP00000370263:D363Y;ENSP00000412940:D362Y;ENSP00000370262:D362Y	ENSP00000370257:D365Y	D	-	1	0	FREM1	14841350	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	4.660000	0.61511	2.850000	0.98022	0.655000	0.94253	GAT		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		56	226	1	0	1.67886e-27	1	1.94484e-27	56	226					A	14851350	C	A	14851350	3	1	79	1	0	0	0	0	1	0	0	0	6071	913	32	3	5633	3	FREM1	9	14851350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8729	14851350	126362081	9895	20212											
SNAPC3	6619	broad.mit.edu	37	chr9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccgagctaaatacgcGcgctttccatgtgggcgcct	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	40					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAAATACGCGCGCTTTCCAT	0.687																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(118-120)cGc>cAc		small nuclear RNA activating complex, polypeptide 3, 50kDa							23	25	24					9																	15422996		2195	4291	6486	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15422996G>A	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.119G>A	9.37:g.15422996G>A	ENSP00000370200:p.Arg40His						p.R40H	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	1	295	+			40					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.119G>A	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860655	0.32884	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50813	0.73	5.36	2.33	0.28932	.	0.410761	0.27500	N	0.019097	T	0.39172	0.1068	L	0.51422	1.61	0.19775	N	0.999953	D;P	0.54047	0.964;0.832	B;B	0.43082	0.407;0.151	T	0.33369	-0.9871	10	0.72032	D	0.01	-15.0524	6.5701	0.22533	0.1793:0.1541:0.6666:0.0	.	40;40	B4DDR9;Q92966	.;SNPC3_HUMAN	H	40	ENSP00000370200:R40H	ENSP00000370185:R40H	R	+	2	0	SNAPC3	15412996	0.239000	0.23836	0.423000	0.26634	0.171000	0.22731	2.301000	0.43628	0.838000	0.34948	-0.304000	0.09214	CGC		0.687	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		14	63	0	0	0	1	0	14	63					A	15422996	G	A	15422996	3	1	79	1	0	0	0	0	1	0	0	0	14886	1087	38	1	121	1	SNAPC3	9	15422996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	571646	15422996	125790435	9896	20213											
C9orf93	203238	broad.mit.edu	37	chr9	15723736	15723736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatagactctcacactaaaAatataaaggtattatttaga	5	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15723736A>C	ENST00000380701.3	+	13	1811	c.1483A>C	c.(1483-1485)Aat>Cat	p.N495H	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).														TCACACTAAAAATATAAAGGT	0.274																																						ENST00000380701.3																			0											c.(1483-1485)Aat>Cat		coiled-coil domain containing 171							32	35	34					9																	15723736		2195	4265	6460	SO:0001583	missense	203238							g.chr9:15723736A>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1483A>C	9.37:g.15723736A>C	ENSP00000370077:p.Asn495His					CCDC171_ENST00000297641.3_Missense_Mutation_p.N495H	p.N495H	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			13	1811	+			495		N -> I (in dbSNP:rs10962127).			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1483A>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660058	0.47572	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.47528	0.84;0.84	5.66	4.45	0.53987	.	0.820361	0.11527	N	0.555102	T	0.43942	0.1270	N	0.24115	0.695	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.54100	0.742;0.66;0.742	T	0.03922	-1.0992	10	0.13470	T	0.59	-4.8921	11.332	0.49482	0.865:0.0:0.0:0.135	.	503;495;495	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	H	495	ENSP00000297641:N495H;ENSP00000370077:N495H	ENSP00000297641:N495H	N	+	1	0	C9orf93	15713736	0.875000	0.30112	1.000000	0.80357	0.996000	0.88848	1.195000	0.32186	2.279000	0.76181	0.533000	0.62120	AAT		0.274	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		15	115	0	0	0	1	0	15	115					C	15723736	A	C	15723736	3	2	79	1	0	0	0	0	1	0	0	0	2513	14	1	4	1529	4	C9orf93	9	15723736	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	300740	15723736	125489695	9897	20214											
BNC2	54796	broad.mit.edu	37	chr9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgcactgtggcgattaCgacttcggagggagctaaag	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H	NM_017637.5	NP_060107.3			basonuclin 2											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)		GTGGCGATTACGACTTCGGAG	0.463																																						ENST00000380672.4																			0				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						c.(1456-1458)cGt>cAt		basonuclin 2							143	133	137					9																	16436735		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436735C>T	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.1457G>A	9.37:g.16436735C>T	ENSP00000370047:p.Arg486His					BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	p.R486H	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1514	-			486						Missense_Mutation	SNP	ENST00000380672.4	37	c.1457G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		17	524	0	0	0	1	0	17	524					T	16436735	C	T	16436735	3	4	79	1	0	0	0	0	1	0	0	0	1477	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	712999	16436735	124776696	9898	20215											
BNC2	54796	broad.mit.edu	37	chr9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtgttcagttttggTtagatcactgactggggcag	14	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000545497.1_Missense_Mutation_p.T320A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A	NM_017637.5	NP_060107.3			basonuclin 2											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)		TCAGTTTTGGTTAGATCACTG	0.483																																						ENST00000380672.4																			0				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						c.(1243-1245)Acc>Gcc		basonuclin 2							83	78	80					9																	16436949		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436949T>C	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.1243A>G	9.37:g.16436949T>C	ENSP00000370047:p.Thr415Ala					BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	p.T415A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1300	-			415						Missense_Mutation	SNP	ENST00000380672.4	37	c.1243A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131188	0.01756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30981	1.53;1.52;1.54;1.54;1.51	6.07	2.28	0.28536	.	0.910256	0.09748	N	0.761036	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.02656	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	0.04013	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.18276	T	0.48	-7.7067	5.7067	0.17913	0.5184:0.0903:0.0:0.3913	.	320;348;415;241;415;372;415;320;180	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	415;372;348;320;241;415;415	ENSP00000370047:T415A;ENSP00000408370:T372A;ENSP00000370042:T348A;ENSP00000444640:T320A;ENSP00000370041:T415A	ENSP00000370041:T415A	T	-	1	0	BNC2	16426949	0.510000	0.26171	0.715000	0.30552	0.046000	0.14306	1.029000	0.30140	0.462000	0.27095	0.533000	0.62120	ACC		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		53	240	0	0	0	1	0	53	240					C	16436949	T	C	16436949	3	2	79	1	0	0	0	0	1	0	0	0	1477	1725	60	4	2064	4	BNC2	9	16436949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214	16436949	124776482	9899	20216											
BNC2	54796	broad.mit.edu	37	chr9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcattcttataaggtgTgggagaaacttcggattcgc	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000545497.1_Missense_Mutation_p.T279A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A	NM_017637.5	NP_060107.3			basonuclin 2											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)		TTATAAGGTGTGGGAGAAACT	0.473																																						ENST00000380672.4																			0				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						c.(1120-1122)Aca>Gca		basonuclin 2							110	112	111					9																	16437072		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437072T>C	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.1120A>G	9.37:g.16437072T>C	ENSP00000370047:p.Thr374Ala					BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	p.T374A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1177	-			374						Missense_Mutation	SNP	ENST00000380672.4	37	c.1120A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635166	0.14322	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.29397	1.57;1.57;1.58;1.58;1.57	5.96	5.96	0.96718	.	0.102553	0.64402	D	0.000002	T	0.17365	0.0417	N	0.14661	0.345	0.37568	D	0.919307	B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.004;0.001;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B;B;B	0.12156	0.001;0.0;0.001;0.007;0.003;0.0;0.0;0.0;0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-11.4966	11.4686	0.50254	0.0:0.0695:0.0:0.9305	.	279;307;374;200;374;331;374;279;139	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	374;331;307;279;200;374;374	ENSP00000370047:T374A;ENSP00000408370:T331A;ENSP00000370042:T307A;ENSP00000444640:T279A;ENSP00000370041:T374A	ENSP00000370041:T374A	T	-	1	0	BNC2	16427072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.615000	0.46368	2.270000	0.75569	0.533000	0.62120	ACA		0.473	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		65	294	0	0	0	1	0	65	294					C	16437072	T	C	16437072	3	2	79	1	0	0	0	0	1	0	0	0	1477	1696	59	4	2187	4	BNC2	9	16437072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123	16437072	124776359	9900	20217											
CNTLN	54875	broad.mit.edu	37	chr9	17298326	17298326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggaagatgttcacacAgctgaaagtatatcatatca	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	374					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTTCACACAGCTGAAAGTA	0.333																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1120-1122)acA>acG		centlein, centrosomal protein							70	67	68					9																	17298326		1883	4109	5992	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17298326A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1122A>G	9.37:g.17298326A>G						CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T	p.T374T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	7	1206	+			374					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.1122A>G	CCDS43789.1																																																																																				0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		30	177	0	0	0	1	0	30	177					G	17298326	A	G	17298326	2	3	79	1	0	0	0	0	0	0	0	1	3648	175	7	4		4	CNTLN	9	17298326	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861254	17298326	123915105	9901	20218											
CNTLN	54875	broad.mit.edu	37	chr9	17330786	17330786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaagagcatcatgacaAgtgctgaaggaaaacataag	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17330786A>C	ENST00000380647.3	+	9	1582	c.1498A>C	c.(1498-1500)Agt>Cgt	p.S500R	CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	500					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CATCATGACAAGTGCTGAAGG	0.373																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1498-1500)Agt>Cgt		centlein, centrosomal protein							108	102	104					9																	17330786		1875	4096	5971	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17330786A>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1498A>C	9.37:g.17330786A>C	ENSP00000370021:p.Ser500Arg					CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R	p.S500R			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	9	1582	+			500					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1498A>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555123	0.27739	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36157	1.27;1.27;1.27	2.82	1.6	0.23607	.	.	.	.	.	T	0.41811	0.1175	L	0.56769	1.78	0.09310	N	1	B;D;D	0.64830	0.112;0.994;0.994	B;P;P	0.56960	0.032;0.81;0.81	T	0.22800	-1.0206	9	0.20519	T	0.43	.	5.0658	0.14582	0.7361:0.0:0.0:0.2639	.	500;500;500	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	R	500	ENSP00000370021:S500R;ENSP00000392798:S500R;ENSP00000262360:S500R	ENSP00000262360:S500R	S	+	1	0	CNTLN	17320786	0.007000	0.16637	0.055000	0.19348	0.588000	0.36517	1.997000	0.40786	0.439000	0.26476	0.528000	0.53228	AGT		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		13	491	0	0	0	1	0	13	491					C	17330786	A	C	17330786	3	2	79	1	0	0	0	0	1	0	0	0	3648	72	3	4	1562	4	CNTLN	9	17330786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32460	17330786	123882645	9902	20219											
CNTLN	54875	broad.mit.edu	37	chr9	17340942	17340942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagtgggaagaaggcagtGgcatgtgagttacatagctc	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17340942G>T	ENST00000380647.3	+	11	1846	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	588					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGGCAGTGGCATGTGAGT	0.388																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1762-1764)Ggc>Tgc		centlein, centrosomal protein							81	74	76					9																	17340942		1914	4142	6056	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17340942G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1762G>T	9.37:g.17340942G>T	ENSP00000370021:p.Gly588Cys					CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C	p.G588C			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	11	1846	+			588					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1762G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330380	0.60743	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11604	2.76;2.76;2.76	5.4	3.3	0.37823	.	.	.	.	.	T	0.22781	0.0550	M	0.64997	1.995	0.35483	D	0.798318	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.69479	0.964;0.947;0.947	T	0.20974	-1.0259	9	0.62326	D	0.03	.	4.1643	0.10300	0.4102:0.0:0.5898:0.0	.	588;588;588	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	C	588	ENSP00000370021:G588C;ENSP00000392798:G588C;ENSP00000262360:G588C	ENSP00000262360:G588C	G	+	1	0	CNTLN	17330942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.094000	0.50227	1.259000	0.44117	0.591000	0.81541	GGC		0.388	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		5	209	1	0	0.000602214	1	0.000609647	5	209					T	17340942	G	T	17340942	3	4	79	1	0	0	0	0	1	0	0	0	3648	1348	47	3	1834	3	CNTLN	9	17340942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10156	17340942	123872489	9903	20220											
CNTLN	54875	broad.mit.edu	37	chr9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagataataaaggggagtaAagatgtagaaaaagaaaata	10	1	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	751					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGGGAGTAAAGATGTAGAA	0.363																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2251-2253)aAa>aCa		centlein, centrosomal protein							85	80	81					9																	17394704		1836	4103	5939	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17394704A>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2252A>C	9.37:g.17394704A>C	ENSP00000370021:p.Lys751Thr					CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T	p.K751T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	15	2336	+			751					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2252A>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.334863	0.01287	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18174	2.23;2.23;2.49	5.56	1.7	0.24286	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.008;0.009;0.006	T	0.35624	-0.9781	9	0.27785	T	0.31	.	1.5427	0.02558	0.3752:0.1479:0.3343:0.1427	.	751;751;751	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	751	ENSP00000370021:K751T;ENSP00000392798:K751T;ENSP00000262360:K751T	ENSP00000262360:K751T	K	+	2	0	CNTLN	17384704	0.218000	0.23608	0.082000	0.20525	0.634000	0.38068	0.444000	0.21661	0.309000	0.22966	0.528000	0.53228	AAA		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		68	237	0	0	0	1	0	68	237					C	17394704	A	C	17394704	3	2	79	1	0	0	0	0	1	0	0	0	3648	14	1	4	2340	4	CNTLN	9	17394704	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53762	17394704	123818727	9904	20221											
CNTLN	54875	broad.mit.edu	37	chr9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagactgaatctgcaatgGcagaaattgaaacagcagca	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1242					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATCTGCAATGGCAGAAATTGA	0.378																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3724-3726)Gca>Tca		centlein, centrosomal protein							81	74	76					9																	17466758		1865	4100	5965	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17466758G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3724G>T	9.37:g.17466758G>T	ENSP00000370021:p.Ala1242Ser					CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S	p.A1242S			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	23	3808	+			1242					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3724G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077479	0.36662	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.43	5.32	3.14	0.36123	.	.	.	.	.	T	0.19644	0.0472	L	0.48642	1.525	0.25935	N	0.982942	P;B;B	0.47191	0.891;0.211;0.211	P;B;B	0.47299	0.543;0.13;0.13	T	0.05194	-1.0900	9	0.11485	T	0.65	.	6.0083	0.19559	0.2483:0.0:0.6027:0.149	.	1242;1242;1242	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	1242	ENSP00000370021:A1242S;ENSP00000392798:A1242S;ENSP00000262360:A1242S	ENSP00000262360:A1242S	A	+	1	0	CNTLN	17456758	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	0.348000	0.20031	1.245000	0.43885	-0.145000	0.13849	GCA		0.378	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		26	186	1	0	3.28513e-13	1	3.54196e-13	26	186					T	17466758	G	T	17466758	3	4	79	1	0	0	0	0	1	0	0	0	3648	1203	42	3	3844	3	CNTLN	9	17466758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72054	17466758	123746673	9905	20222											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18622252	18622252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttagattgttggctgCgatcaccagctgggaagcac	12	9	2	1	rs374475613		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(484-486)tgC>tgT		ADAMTS-like 1		C	,	0,4406		0,0,2203	103	92	96		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622252C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T						ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C	p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	825	+			162					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.486C>T	CCDS47954.1																																																																																				0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			64	263	0	0	0	1	0	64	263					T	18622252	C	T	18622252	2	4	79	1	0	0	0	0	0	0	0	1	274	776	27	1		1	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155494	18622252	122591179	9906	20223											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcgaccatcgaggaatGcacacaggaggctgtagccc	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000380548.4	+	12	1746	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	469	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1405-1407)atG>atA		ADAMTS-like 1							235	216	222					9																	18681875		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18681875G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1407G>A	9.37:g.18681875G>A	ENSP00000369921:p.Met469Ile					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I	p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	12	1746	+			469			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1407G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577051	0.28092	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.53423	0.62;0.62;0.62	5.71	4.81	0.61882	.	.	.	.	.	T	0.25865	0.0630	N	0.04335	-0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06075	-1.0847	9	0.39692	T	0.17	.	10.9033	0.47065	0.1429:0.0:0.8571:0.0	.	469	Q8N6G6	ATL1_HUMAN	I	469	ENSP00000369921:M469I;ENSP00000327887:M469I;ENSP00000276935:M469I	ENSP00000276935:M469I	M	+	3	0	ADAMTSL1	18671875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.337000	0.33862	1.558000	0.49541	0.650000	0.86243	ATG		0.517	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			178	815	0	0	0	1	0	178	815					A	18681875	G	A	18681875	3	1	79	1	0	0	0	0	1	0	0	0	274	1319	46	2	1453	2	ADAMTSL1	9	18681875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59623	18681875	122531556	9907	20224											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggtgtccaggaggctGtggtgagctgcttgaacaaa	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000380548.4	+	15	2230	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	631	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1891-1893)Gtg>Atg		ADAMTS-like 1							98	100	99					9																	18721548		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721548G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1891G>A	9.37:g.18721548G>A	ENSP00000369921:p.Val631Met					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2230	+			631			TSP type-1 5.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1891G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121444	0.77436	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61392	0.11;0.11	5.86	5.86	0.93980	.	.	.	.	.	T	0.63733	0.2536	L	0.39020	1.185	0.80722	D	1	D	0.69078	0.997	D	0.63877	0.919	T	0.60031	-0.7342	9	0.35671	T	0.21	.	13.052	0.58960	0.0739:0.0:0.9261:0.0	.	631	Q8N6G6	ATL1_HUMAN	M	631	ENSP00000369921:V631M;ENSP00000276935:V631M	ENSP00000276935:V631M	V	+	1	0	ADAMTSL1	18711548	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.476000	0.73587	2.774000	0.95407	0.650000	0.86243	GTG		0.587	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			30	555	0	0	0	1	0	30	555					A	18721548	G	A	18721548	3	1	79	1	0	0	0	0	1	0	0	0	274	1377	48	2	1953	2	ADAMTSL1	9	18721548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39673	18721548	122491883	9908	20225											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777494	18777494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacctctcccagcagccCgaggagctgcgcgacctcta	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1089						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3265-3267)ccC>ccT		ADAMTS-like 1							14	18	16					9																	18777494		2075	4189	6264	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777494C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3267C>T	9.37:g.18777494C>T							p.P1089P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3606	+			1089					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3267C>T	CCDS47954.1																																																																																				0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	42	0	0	0	1	0	11	42					T	18777494	C	T	18777494	2	4	79	1	0	0	0	0	0	0	0	1	274	639	23	1		1	ADAMTSL1	9	18777494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55946	18777494	122435937	9909	20226											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtgacctcctggtctGcctgtacccggagctgtggg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1556	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTGGTCTGCCTGTACCCG	0.602																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4666-4668)Gcc>Acc		ADAMTS-like 1							29	31	30					9																	18892409		1922	4119	6041	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18892409G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4666G>A	9.37:g.18892409G>A	ENSP00000369921:p.Ala1556Thr					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	p.A1556T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	26	5005	+			1556			TSP type-1 8.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4666G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834813	0.32421	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.55052	0.54;0.54	5.45	4.48	0.54585	.	0.467261	0.21883	N	0.067719	T	0.32376	0.0827	N	0.13235	0.315	0.27451	N	0.953432	B;B	0.29212	0.137;0.237	B;B	0.30943	0.058;0.122	T	0.12091	-1.0561	10	0.33141	T	0.24	.	7.4575	0.27274	0.0:0.1348:0.4922:0.373	.	257;1556	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1556;257;260	ENSP00000369921:A1556T;ENSP00000369918:A257T	ENSP00000325584:A260T	A	+	1	0	ADAMTSL1	18882409	0.019000	0.18553	0.967000	0.41034	0.998000	0.95712	1.680000	0.37607	2.560000	0.86352	0.555000	0.69702	GCC		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			14	90	0	0	0	1	0	14	90					A	18892409	G	A	18892409	3	1	79	1	0	0	0	0	1	0	0	0	274	1319	46	2	4772	2	ADAMTSL1	9	18892409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114915	18892409	122321022	9910	20227											
FAM154A	158297	broad.mit.edu	37	chr9	18928781	18928781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggctttcaaaggggaTttcacagggcctgaacttct	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18928781T>G	ENST00000380534.4	-	4	973	c.694A>C	c.(694-696)Atc>Ctc	p.I232L	FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	232										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCAAAGGGGATTTCACAGGGC	0.542																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(694-696)Atc>Ctc		family with sequence similarity 154, member A							88	92	91					9																	18928781		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928781T>G	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.694A>C	9.37:g.18928781T>G	ENSP00000369907:p.Ile232Leu					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L	p.I232L	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	973	-			232					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.694A>C	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	T	5.696	0.313041	0.10789	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.15017	2.46;2.46	5.09	2.75	0.32379	.	0.105301	0.42682	D	0.000674	T	0.12987	0.0315	M	0.63428	1.95	0.24741	N	0.993039	B	0.31153	0.31	B	0.30105	0.111	T	0.27739	-1.0065	10	0.08381	T	0.77	-11.714	4.3515	0.11158	0.0:0.254:0.163:0.583	.	232	Q8IYX7	F154A_HUMAN	L	232;40	ENSP00000369907:I232L;ENSP00000438823:I40L	ENSP00000369907:I232L	I	-	1	0	FAM154A	18918781	0.000000	0.05858	0.978000	0.43139	0.912000	0.54170	-0.297000	0.08276	0.408000	0.25621	-0.256000	0.11100	ATC		0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		11	377	0	0	0	1	0	11	377					G	18928781	T	G	18928781	3	3	79	1	0	0	0	0	1	0	0	0	5484	1493	52	4	734	4	FAM154A	9	18928781	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36372	18928781	122284650	9911	20228											
RRAGA	10670	broad.mit.edu	37	chr9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagaactctcctgacgCcaaaatcttctgcctggtgc	7	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						TCTCCTGACGCCAAAATCTTC	0.502																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(358-360)gCc>gTc		Ras-related GTP binding A							72	70	71					9																	19050016		2203	4300	6503	SO:0001583	missense	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050016C>T	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.359C>T	9.37:g.19050016C>T	ENSP00000369899:p.Ala120Val						p.A120V	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	645	+			120						Missense_Mutation	SNP	ENST00000380527.1	37	c.359C>T	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479382	0.84747	.	.	ENSG00000155876	ENST00000380527	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.80141	-0.1506	10	0.44086	T	0.13	-10.7655	16.1608	0.81704	0.0:1.0:0.0:0.0	.	120	Q7L523	RRAGA_HUMAN	V	120	ENSP00000369899:A120V	ENSP00000369899:A120V	A	+	2	0	RRAGA	19040016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.320000	0.79064	2.770000	0.95276	0.655000	0.94253	GCC		0.502	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		13	196	0	0	0	1	0	13	196					T	19050016	C	T	19050016	3	4	79	1	0	0	0	0	1	0	0	0	13722	739	26	2	361	2	RRAGA	9	19050016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121235	19050016	122163415	9912	20229											
RRAGA	54801	broad.mit.edu	37	chr9	19050182	19050182	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctacaaagcctggtccagCatcgtctaccagctgattcc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050182C>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.S175R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGGTCCAGCATCGTCTACC	0.527																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(523-525)agC>agA		Ras-related GTP binding A							66	65	65					9																	19050182		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050182C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050182C>A							p.S175R	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	811	+			175					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.525C>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064092	0.36373	.	.	ENSG00000155876	ENST00000380527	T	0.64085	-0.08	4.45	-3.64	0.04515	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.69523	2.12	0.54753	D	0.999988	B	0.27765	0.188	B	0.40410	0.328	T	0.55673	-0.8104	10	0.30078	T	0.28	-3.5752	12.9395	0.58335	0.0:0.6573:0.0:0.3427	.	175	Q7L523	RRAGA_HUMAN	R	175	ENSP00000369899:S175R	ENSP00000369899:S175R	S	+	3	2	RRAGA	19040182	0.236000	0.23804	0.953000	0.39169	0.976000	0.68499	-0.468000	0.06656	-0.662000	0.05338	-0.345000	0.07892	AGC		0.527	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		9	167	1	0	1.12685e-05	1	1.15515e-05	9	167					A	19050182	C	A	19050182	1	1	79	0	1	0	0	0	0	0	0	0	13722	709	25	3		3	RRAGA	9	19050182	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	19050182	122163249	9913	20230											
HAUS6	54801	broad.mit.edu	37	chr9	19089409	19089409	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactatcaaggtactacttaCtgtgcattttcctgatattt	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		HAUS6_ENST00000380496.1_Splice_Site|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e5+1		HAUS augmin-like complex, subunit 6							88	87	87					9																	19089409		2202	4300	6502	SO:0001630	splice_region_variant	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19089409C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.584+1G>T	9.37:g.19089409C>A						HAUS6_ENST00000380496.1_Splice_Site		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			5	1052	-								B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Splice_Site	SNP	ENST00000380502.3	37		CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813639	0.50527	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1537	0.81640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19079409	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.783000	0.62403	2.406000	0.81754	0.557000	0.71058	.		0.348	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Intron	28	170	1	0	4.59853e-10	1	4.86106e-10	28	170					A	19089409	C	A	19089409	5	1	79	1	0	0	0	0	0	0	1	0	7000	579	20	3	2334	3	HAUS6	9	19089409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39227	19089409	122124022	9914	20231											
DENND4C	55667	broad.mit.edu	37	chr9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacctacctgatagtaGgacttgtatgtctgaaagca	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000380432.2	+	18	2657	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGATAGTAGGACTTGTATG	0.448																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1042-1044)aGg>aTg		DENN/MADD domain containing 4C							160	146	151					9																	19346246		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346246G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2624G>T	9.37:g.19346246G>T	ENSP00000369797:p.Arg875Met					DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000380432.2_Missense_Mutation_p.R875M|DENND4C_ENST00000540671.1_Missense_Mutation_p.R205M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M	p.R348M			Q5VZ89	DEN4C_HUMAN			19	2795	+			875			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1043G>T		.	.	.	.	.	.	.	.	.	.	G	12.95	2.090810	0.36855	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.81	5.29	4.37	0.52481	.	0.992377	0.08205	N	0.981578	T	0.40546	0.1121	L	0.47716	1.5	0.35036	D	0.759271	D;D;D;D	0.76494	0.996;0.986;0.999;0.976	P;P;P;P	0.60682	0.878;0.855;0.843;0.72	T	0.30563	-0.9974	10	0.49607	T	0.09	-17.6969	10.094	0.42464	0.0732:0.1359:0.7909:0.0	.	205;875;57;875	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	875;348;57;205;348;57	ENSP00000305795:R348M;ENSP00000443804:R205M	ENSP00000305795:R348M	R	+	2	0	DENND4C	19336246	0.998000	0.40836	0.949000	0.38748	0.041000	0.13682	2.918000	0.48829	2.741000	0.93983	0.650000	0.86243	AGG		0.448	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		126	522	1	0	6.92432e-61	1	8.71362e-61	126	522					T	19346246	G	T	19346246	3	4	79	1	0	0	0	0	1	0	0	0	4451	1000	35	3	2694	3	DENND4C	9	19346246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256837	19346246	121867185	9915	20232											
RPS6	6194	broad.mit.edu	37	chr9	19378800	19378800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccagttctccttggTctgtaacaggaatgcccctt	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Silent_p.R54R|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	85					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478																																						ENST00000380394.4																			0				endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(253-255)agA>agG		ribosomal protein S6							40	38	39					9																	19378800		2203	4300	6503	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19378800T>C		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"S ribosomal proteins"	10429	protein-coding gene	gene with protein product	"40S ribosomal protein S6", "phosphoprotein NP33"	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.255A>G	9.37:g.19378800T>C						RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380384.1_Silent_p.R54R	p.R85R	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	3	313	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	85					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.255A>G	CCDS6492.1																																																																																				0.478	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		22	170	0	0	0	1	0	22	170					C	19378800	T	C	19378800	2	2	79	1	0	0	0	0	0	0	0	1	13699	1664	58	4		4	RPS6	9	19378800	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32554	19378800	121834631	9916	20233											
SLC24A2	25769	broad.mit.edu	37	chr9	19786640	19786640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgtgctaccctaggGccacttacaacactggcctc	7	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	75					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(223-225)ggC>ggT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							96	99	98					9																	19786640		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786640G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.225C>T	9.37:g.19786640G>A						SLC24A2_ENST00000286344.3_Silent_p.G75G	p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	286	-			75					B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.225C>T	CCDS6493.1																																																																																				0.453	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		22	425	0	0	0	1	0	22	425					A	19786640	G	A	19786640	2	1	79	1	0	0	0	0	0	0	0	1	14516	1190	42	2		2	SLC24A2	9	19786640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407840	19786640	121426791	9917	20234											
KIAA1797	54914	broad.mit.edu	37	chr9	20781887	20781887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttggctctaaaccttttgGaaatgatacagcaggaatgt	10	6	1	1	rs371670691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781887G>A	ENST00000380249.1	+	12	1520	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E386K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	386						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACCTTTTGGAAATGATACA	0.408																																						ENST00000380249.1																			0											c.(1156-1158)Gaa>Aaa		focadhesin							127	112	117					9																	20781887		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20781887G>A	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.1156G>A	9.37:g.20781887G>A	ENSP00000369599:p.Glu386Lys					FOCAD_ENST00000338382.6_Missense_Mutation_p.E386K	p.E386K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			12	1520	+			386					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1156G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224285	0.58668	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07444	3.19;3.19	5.88	4.98	0.66077	.	0.280305	0.37348	N	0.002135	T	0.07369	0.0186	L	0.32530	0.975	0.42978	D	0.994451	P	0.39282	0.666	B	0.33339	0.162	T	0.36890	-0.9729	10	0.29301	T	0.29	-16.2097	15.434	0.75129	0.0:0.1382:0.8618:0.0	.	386	Q5VW36	K1797_HUMAN	K	386	ENSP00000369599:E386K;ENSP00000344307:E386K	ENSP00000344307:E386K	E	+	1	0	KIAA1797	20771887	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.395000	0.59678	1.465000	0.48006	-0.176000	0.13171	GAA		0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		23	334	0	0	0	1	0	23	334					A	20781887	G	A	20781887	3	1	79	1	0	0	0	0	1	0	0	0	8288	1175	41	2	1190	2	KIAA1797	9	20781887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995247	20781887	120431544	9918	20235											
KIAA1797	54914	broad.mit.edu	37	chr9	20781925	20781925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttacagagatgaccaccaAaaggtaatgaatctatcctt	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781925A>G	ENST00000380249.1	+	12	1558	c.1194A>G	c.(1192-1194)caA>caG	p.Q398Q	FOCAD_ENST00000338382.6_Silent_p.Q398Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	398						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ATGACCACCAAAAGGTAATGA	0.403																																						ENST00000380249.1																			0											c.(1192-1194)caA>caG		focadhesin							100	90	93					9																	20781925		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20781925A>G	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.1194A>G	9.37:g.20781925A>G						FOCAD_ENST00000338382.6_Silent_p.Q398Q	p.Q398Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			12	1558	+			398					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.1194A>G	CCDS34993.1																																																																																				0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	213	0	0	0	1	0	55	213					G	20781925	A	G	20781925	2	3	79	1	0	0	0	0	0	0	0	1	8288	11	1	4		4	KIAA1797	9	20781925	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38	20781925	120431506	9919	20236											
KIAA1797	54914	broad.mit.edu	37	chr9	20981573	20981573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagctatgcccaagtgCtttacacggtctgagccagg	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20981573C>A	ENST00000380249.1	+	40	4890	c.4526C>A	c.(4525-4527)gCt>gAt	p.A1509D	FOCAD_ENST00000605086.1_Missense_Mutation_p.A945D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1509D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1509						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCCCAAGTGCTTTACACGGT	0.498																																						ENST00000380249.1																			0											c.(4525-4527)gCt>gAt		focadhesin							69	65	67					9																	20981573		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20981573C>A	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.4526C>A	9.37:g.20981573C>A	ENSP00000369599:p.Ala1509Asp					FOCAD_ENST00000605086.1_Missense_Mutation_p.A945D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1509D	p.A1509D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			40	4890	+			1509					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4526C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890857	0.52014	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.25749	1.78;1.78	5.44	4.52	0.55395	.	0.416960	0.26948	N	0.021696	T	0.22244	0.0536	L	0.51422	1.61	0.30640	N	0.756548	P	0.38335	0.627	B	0.37650	0.255	T	0.20907	-1.0261	10	0.62326	D	0.03	-17.3935	6.6019	0.22705	0.0:0.7455:0.0:0.2545	.	1509	Q5VW36	K1797_HUMAN	D	1509	ENSP00000369599:A1509D;ENSP00000344307:A1509D	ENSP00000344307:A1509D	A	+	2	0	KIAA1797	20971573	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.386000	0.52492	2.832000	0.97577	0.655000	0.94253	GCT		0.498	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	239	1	0	1.32667e-27	1	1.53764e-27	55	239					A	20981573	C	A	20981573	3	1	79	1	0	0	0	0	1	0	0	0	8288	797	28	3	4672	3	KIAA1797	9	20981573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199648	20981573	120231858	9920	20237											
KIAA1797	54914	broad.mit.edu	37	chr9	20990139	20990139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctttggacttcttcttGctgatatttgcaaccgcagt	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20990139G>A	ENST00000380249.1	+	44	5386	c.5022G>A	c.(5020-5022)ttG>ttA	p.L1674L	FOCAD_ENST00000605086.1_Silent_p.L1110L|FOCAD_ENST00000338382.6_Silent_p.L1674L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1674						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACTTCTTCTTGCTGATATTTG	0.478																																						ENST00000380249.1																			0											c.(5020-5022)ttG>ttA		focadhesin							90	80	83					9																	20990139		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20990139G>A	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.5022G>A	9.37:g.20990139G>A						FOCAD_ENST00000605086.1_Silent_p.L1110L|FOCAD_ENST00000338382.6_Silent_p.L1674L	p.L1674L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			44	5386	+			1674					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.5022G>A	CCDS34993.1																																																																																				0.478	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	288	0	0	0	1	0	55	288					A	20990139	G	A	20990139	2	1	79	1	0	0	0	0	0	0	0	1	8288	1310	46	2		2	KIAA1797	9	20990139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8566	20990139	120223292	9921	20238											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		9	409						9	409	---	---	---	---	T	21007046	-	T	21007045	7	5	79	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	16906	21007045	120206386	9922	20239											
IFNA10	3446	broad.mit.edu	37	chr9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacaagggctgtattTcctctctattagataaagag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	158					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)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGGCTGTATTTCCTCTCTATT	0.443																																						ENST00000357374.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(472-474)Aaa>Gaa		interferon, alpha 10							275	279	277					9																	21206625		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206625T>C		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.472A>G	9.37:g.21206625T>C	ENSP00000369566:p.Lys158Glu						p.K158E	NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	517	-			158					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.472A>G	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	11.46	1.644157	0.29246	.	.	ENSG00000186803	ENST00000357374	T	0.05447	3.44	3.75	-0.534	0.11883	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.731033	0.13799	N	0.361970	T	0.06280	0.0162	L	0.45581	1.43	0.09310	N	0.999998	B	0.14805	0.011	B	0.26770	0.073	T	0.37911	-0.9685	10	0.32370	T	0.25	.	6.4822	0.22069	0.0:0.5697:0.0:0.4303	.	158	P01566	IFN10_HUMAN	E	158	ENSP00000369566:K158E	ENSP00000369566:K158E	K	-	1	0	IFNA10	21196625	0.000000	0.05858	0.015000	0.15790	0.414000	0.31173	-0.713000	0.05007	0.044000	0.15775	0.409000	0.27619	AAA		0.443	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		80	1839	0	0	0	1	0	80	1839					C	21206625	T	C	21206625	3	2	79	1	0	0	0	0	1	0	0	0	7562	1792	62	4	101	4	IFNA10	9	21206625	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199580	21206625	120006806	9923	20240											
IFNA16	3449	broad.mit.edu	37	chr9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcctattacccaggCtgtgagtctgaggcagatca	11	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	31					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)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(91-93)aGc>aAc		interferon, alpha 16							93	94	94					9																	21217213		2203	4300	6503	SO:0001583	missense	3449				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.chr9:21217213C>T		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.92G>A	9.37:g.21217213C>T	ENSP00000369564:p.Ser31Asn						p.S31N	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	97	-			31					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.92G>A	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	2.568	-0.300385	0.05532	.	.	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	1.67	0.24075	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.801600	0.11407	N	0.567150	T	0.02888	0.0086	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.47381	-0.9122	10	0.24483	T	0.36	.	4.4801	0.11762	0.0:0.6507:0.0:0.3493	.	31	P05015	IFN16_HUMAN	N	31	ENSP00000369564:S31N	ENSP00000369564:S31N	S	-	2	0	IFNA16	21207213	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-2.500000	0.00967	0.401000	0.25424	0.184000	0.17185	AGC		0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		96	526	0	0	0	1	0	96	526					T	21217213	C	T	21217213	3	4	79	1	0	0	0	0	1	0	0	0	7565	797	28	2	481	2	IFNA16	9	21217213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10588	21217213	119996218	9924	20241											
KLHL9	55958	broad.mit.edu	37	chr9	21333707	21333707	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcgcttttcatttaaTgatgcaacctgcatccattt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	384					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTCATTTAATGATGCAACCT	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1150-1152)tcA>tcC		kelch-like family member 9							82	78	79					9																	21333707		2203	4300	6503	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333707T>G	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1152A>C	9.37:g.21333707T>G						KLHL9_ENST00000537938.1_Silent_p.S316S	p.S384S			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1672	-			384					Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.1152A>C	CCDS6503.1																																																																																				0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		70	332	0	0	0	1	0	70	332					G	21333707	T	G	21333707	2	3	79	1	0	0	0	0	0	0	0	1	8426	1451	51	4		4	KLHL9	9	21333707	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116494	21333707	119879724	9925	20242											
KLHL9	55958	broad.mit.edu	37	chr9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgttctcatgaaatctaCtgtctgcacgtaattgatga	8	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	257					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATGAAATCTACTGTCTGCACG	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(769-771)Gta>Ata		kelch-like family member 9							135	125	128					9																	21334090		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334090C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.769G>A	9.37:g.21334090C>T	ENSP00000351933:p.Val257Ile					KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I	p.V257I			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1289	-			257					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.769G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476530	0.63737	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70986	-0.5;-0.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.83825	0.0249	10	0.39692	T	0.17	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	257	Q9P2J3	KLHL9_HUMAN	I	257;189	ENSP00000351933:V257I;ENSP00000437733:V189I	ENSP00000351933:V257I	V	-	1	0	KLHL9	21324090	1.000000	0.71417	0.918000	0.36340	0.907000	0.53573	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	GTA		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		94	392	0	0	0	1	0	94	392					T	21334090	C	T	21334090	3	4	79	1	0	0	0	0	1	0	0	0	8426	565	20	2	1088	2	KLHL9	9	21334090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	383	21334090	119879341	9926	20243											
ELAVL2	1993	broad.mit.edu	37	chr9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaatccaaaacctttgCatttattggtgttaaagtca	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	316	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAACCTTTGCATTTATTGGT	0.478																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(946-948)tGc>tAc		ELAV like neuron-specific RNA binding protein 2							136	116	123					9																	23692688		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692688C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.947G>A	9.37:g.23692688C>T	ENSP00000380479:p.Cys316Tyr					ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y	p.C316Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1221	-			316			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.947G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858770	0.51376	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	316;303	Q12926;Q12926-2	ELAV2_HUMAN;.	Y	303;316;316;303;316;344	ENSP00000223951:C303Y;ENSP00000380479:C316Y;ENSP00000440998:C316Y;ENSP00000369460:C316Y	ENSP00000223951:C303Y	C	-	2	0	ELAVL2	23682688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	TGC		0.478	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		80	420	0	0	0	1	0	80	420					T	23692688	C	T	23692688	3	4	79	1	0	0	0	0	1	0	0	0	5068	710	25	2	136	2	ELAVL2	9	23692688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2358598	23692688	117520743	9927	20244											
ELAVL2	1993	broad.mit.edu	37	chr9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagacttacctaaaacGctgtgcctgctgagctagcg	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R236G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTAAAACGCTGTGCCTGC	0.458																																						ENST00000397312.2																			1	Substitution - Missense(1)	p.R236G(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(706-708)Cgt>Tgt		ELAV like neuron-specific RNA binding protein 2							256	249	251					9																	23701384		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701384G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.706C>T	9.37:g.23701384G>A	ENSP00000380479:p.Arg236Cys					ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C	p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	980	-			236					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.706C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225405	0.58668	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16073	2.37;2.8;2.8;2.8	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.84948	2.725	0.80722	D	1	B;D	0.76494	0.263;0.999	B;D	0.66497	0.05;0.944	T	0.46978	-0.9152	10	0.54805	T	0.06	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	C	236;236;236;236;236;264	ENSP00000223951:R236C;ENSP00000380479:R236C;ENSP00000440998:R236C;ENSP00000369460:R236C	ENSP00000223951:R236C	R	-	1	0	ELAVL2	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT		0.458	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		37	911	0	0	0	1	0	37	911					A	23701384	G	A	23701384	3	1	79	1	0	0	0	0	1	0	0	0	5068	1087	38	1	385	1	ELAVL2	9	23701384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8696	23701384	117512047	9928	20245											
ELAVL2	1993	broad.mit.edu	37	chr9	23705055	23705055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatagaagctgaacttggGcgagcataggaaacctggaa	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	116	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGAACTTGGGCGAGCATAGG	0.398																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(346-348)cgC>cgT		ELAV like neuron-specific RNA binding protein 2							90	90	90					9																	23705055		2203	4300	6503	SO:0001819	synonymous_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23705055G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.348C>T	9.37:g.23705055G>A						ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R	p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	622	-			116			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.348C>T	CCDS6515.1																																																																																				0.398	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		85	344	0	0	0	1	0	85	344					A	23705055	G	A	23705055	2	1	79	1	0	0	0	0	0	0	0	1	5068	1190	42	2		2	ELAVL2	9	23705055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3671	23705055	117508376	9929	20246											
PLAA	9373	broad.mit.edu	37	chr9	26905793	26905793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcagggccaatgtagccaGagcaatgtgaatgttcttat	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	702	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(2104-2106)Ctg>Ttg		phospholipase A2-activating protein							125	115	118					9																	26905793		2203	4300	6503	SO:0001819	synonymous_variant	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905793G>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2104C>T	9.37:g.26905793G>A							p.L702L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2521	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	702			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	37	c.2104C>T	CCDS35000.1																																																																																				0.418	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		49	195	0	0	0	1	0	49	195					A	26905793	G	A	26905793	2	1	79	1	0	0	0	0	0	0	0	1	12053	933	33	2		2	PLAA	9	26905793	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3200738	26905793	114307638	9930	20247											
PLAA	9373	broad.mit.edu	37	chr9	26910348	26910348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacctaatatttgtgTagggtttgcttggtcaaatg	9	5	1	0	rs533908233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26910348T>C	ENST00000397292.3	-	12	2062	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A	PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	549	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATATTTGTGTAGGGTTTGCT	0.343																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1645-1647)Aca>Gca		phospholipase A2-activating protein							90	90	90					9																	26910348		2202	4299	6501	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26910348T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1645A>G	9.37:g.26910348T>C	ENSP00000380460:p.Thr549Ala					PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	12	2062	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	549			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1645A>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.81|10.81	1.454264|1.454264	0.26161|0.26161	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54866|.	0.55;0.72|.	5.51|5.51	4.38|4.38	0.52667|0.52667	PUL (2);|.	0.117369|.	0.64402|.	D|.	0.000007|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.20685|0.20685	0.6|0.6	0.40317|0.40317	D|D	0.978782|0.978782	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.15052|.	0.012;0.003|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.10111|.	T|.	0.7|.	-12.9958|-12.9958	6.1636|6.1636	0.20378|0.20378	0.1435:0.0753:0.0:0.7813|0.1435:0.0753:0.0:0.7813	.|.	549;549|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	A|C	549|221;75	ENSP00000380460:T549A;ENSP00000429372:T549A|.	ENSP00000380460:T549A|.	T|Y	-|-	1|2	0|0	PLAA|PLAA	26900348|26900348	0.922000|0.922000	0.31269|0.31269	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.034000|1.034000	0.30204|0.30204	2.085000|2.085000	0.62840|0.62840	0.528000|0.528000	0.53228|0.53228	ACA|TAC		0.343	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		8	332	0	0	0	1	0	8	332					C	26910348	T	C	26910348	3	2	79	1	0	0	0	0	1	0	0	0	12053	1638	57	4	754	4	PLAA	9	26910348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4555	26910348	114303083	9931	20248											
IFT74	80173	broad.mit.edu	37	chr9	26978214	26978214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatcaaagttgcccatcGccctgtaacacaacaaggtt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26978214G>A	ENST00000443698.1	+	3	380	c.209G>A	c.(208-210)cGc>cAc	p.R70H	IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000429045.2_Missense_Mutation_p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	70	Basic region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTTGCCCATCGCCCTGTAACA	0.438																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(208-210)cGc>cAc		intraflagellar transport 74 homolog (Chlamydomonas)							95	89	91					9																	26978214		1884	4117	6001	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26978214G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.209G>A	9.37:g.26978214G>A	ENSP00000404122:p.Arg70His					IFT74_ENST00000429045.2_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000380062.5_Missense_Mutation_p.R70H	p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	3	380	+		all_neural(11;2.36e-10)	70					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.209G>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427459	0.96131	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045;ENST00000517866	T;T;T;T;T;T;T;T	0.55760	0.5;1.25;0.75;1.25;1.25;0.5;0.5;0.5	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80115	-0.1517	10	0.87932	D	0	-8.4313	20.0155	0.97477	0.0:0.0:1.0:0.0	.	70;70	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	H	70;70;70;70;70;70;70;70;32	ENSP00000430004:R70H;ENSP00000389224:R70H;ENSP00000430096:R70H;ENSP00000404122:R70H;ENSP00000369402:R70H;ENSP00000430526:R70H;ENSP00000393907:R70H;ENSP00000430742:R32H	ENSP00000369402:R70H	R	+	2	0	IFT74	26968214	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.314000	0.96306	2.742000	0.94016	0.591000	0.81541	CGC		0.438	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		11	273	0	0	0	1	0	11	273					A	26978214	G	A	26978214	3	1	79	1	0	0	0	0	1	0	0	0	7593	1087	38	1	215	1	IFT74	9	26978214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67866	26978214	114235217	9932	20249											
TEK	7010	broad.mit.edu	37	chr9	27190608	27190608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatcagctctgagccttActttggggatggaccaatca	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27190608A>G	ENST00000380036.4	+	10	1851	c.1409A>G	c.(1408-1410)tAc>tGc	p.Y470C	TEK_ENST00000519097.1_Missense_Mutation_p.Y323C|TEK_ENST00000406359.4_Missense_Mutation_p.Y427C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	470	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGAGCCTTACTTTGGGGAT	0.423																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1408-1410)tAc>tGc		TEK tyrosine kinase, endothelial							165	157	160					9																	27190608		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27190608A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1409A>G	9.37:g.27190608A>G	ENSP00000369375:p.Tyr470Cys					TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	p.Y470C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	10	1851	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	470			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1409A>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160147	0.57368	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.73	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349499	0.20629	N	0.088626	T	0.62109	0.2401	L	0.52573	1.65	0.41980	D	0.990798	P;D;P;D	0.64830	0.938;0.994;0.808;0.975	P;D;P;P	0.64237	0.65;0.923;0.526;0.733	T	0.61048	-0.7141	10	0.66056	D	0.02	.	10.1788	0.42955	0.735:0.0:0.0:0.265	.	323;503;427;470	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	323;470;427;427;280	ENSP00000430686:Y323C;ENSP00000369375:Y470C;ENSP00000383977:Y427C;ENSP00000428337:Y280C	ENSP00000343716:Y427C	Y	+	2	0	TEK	27180608	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.992000	0.56980	0.415000	0.25817	-0.403000	0.06358	TAC		0.423	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			14	618	0	0	0	1	0	14	618					G	27190608	A	G	27190608	3	3	79	1	0	0	0	0	1	0	0	0	15803	391	14	4	1447	4	TEK	9	27190608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212394	27190608	114022823	9933	20250											
TEK	7010	broad.mit.edu	37	chr9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttccaggcaacttgacttCggtgctacttaacaacttac	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000380036.4	+	12	2238	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	TEK_ENST00000519097.1_Missense_Mutation_p.S452L|TEK_ENST00000406359.4_Missense_Mutation_p.S556L|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	599	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACTTGACTTCGGTGCTACTT	0.463																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1795-1797)tCg>tTg		TEK tyrosine kinase, endothelial							103	92	96					9																	27197484		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27197484C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1796C>T	9.37:g.27197484C>T	ENSP00000369375:p.Ser599Leu					TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L	p.S599L	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	12	2238	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	599			Fibronectin type-III 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1796C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381519	0.42207	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.54	3.52	0.40303	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168921	0.28420	N	0.015417	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34313	0.448;0.008;0.197;0.013	B;B;B;B	0.25759	0.063;0.005;0.027;0.005	T	0.30995	-0.9959	10	0.48119	T	0.1	.	10.2421	0.43319	0.0:0.6052:0.3212:0.0736	.	452;632;556;599	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	452;599;556;409	ENSP00000430686:S452L;ENSP00000369375:S599L;ENSP00000383977:S556L;ENSP00000428337:S409L	ENSP00000369375:S599L	S	+	2	0	TEK	27187484	0.037000	0.19845	0.818000	0.32626	0.966000	0.64601	1.174000	0.31932	2.619000	0.88677	0.655000	0.94253	TCG		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			82	389	0	0	0	1	0	82	389					T	27197484	C	T	27197484	3	4	79	1	0	0	0	0	1	0	0	0	15803	893	31	1	1842	1	TEK	9	27197484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6876	27197484	114015947	9934	20251											
TEK	7010	broad.mit.edu	37	chr9	27204926	27204926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagcggacctcggaGgggggaagatgctgcttata	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27204926G>A	ENST00000380036.4	+	14	2669	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	TEK_ENST00000519097.1_Missense_Mutation_p.G596R|TEK_ENST00000406359.4_Missense_Mutation_p.G700R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGACCTCGGAGGGGGGAAGAT	0.507																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2227-2229)Ggg>Agg		TEK tyrosine kinase, endothelial							150	132	138					9																	27204926		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204926G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2227G>A	9.37:g.27204926G>A	ENSP00000369375:p.Gly743Arg					TEK_ENST00000406359.4_Missense_Mutation_p.G700R|TEK_ENST00000519097.1_Missense_Mutation_p.G596R	p.G743R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	743					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2227G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149456	0.37923	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.73789	-0.75;-0.77;-0.78	6.02	4.19	0.49359	.	0.385891	0.21778	N	0.069259	T	0.69993	0.3173	L	0.44542	1.39	0.38595	D	0.950518	P;B;P;P	0.46706	0.745;0.276;0.535;0.883	P;B;B;P	0.47402	0.448;0.093;0.331;0.546	T	0.65841	-0.6070	10	0.15952	T	0.53	.	12.5129	0.56015	0.1339:0.0:0.8661:0.0	.	596;776;700;743	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	596;743;700	ENSP00000430686:G596R;ENSP00000369375:G743R;ENSP00000383977:G700R	ENSP00000369375:G743R	G	+	1	0	TEK	27194926	1.000000	0.71417	0.497000	0.27552	0.159000	0.22180	3.807000	0.55591	0.883000	0.36040	0.549000	0.68633	GGG		0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			77	698	0	0	0	1	0	77	698					A	27204926	G	A	27204926	3	1	79	1	0	0	0	0	1	0	0	0	15803	1000	35	2	2281	2	TEK	9	27204926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7442	27204926	114008505	9935	20252											
IFNK	56832	broad.mit.edu	37	chr9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgcctgggagattgtccGagtggaaatcagaagatgtt	14	6	1	3	rs575580082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	187					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|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 (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398																																						ENST00000276943.2																			0				large_intestine(1)	1						c.(559-561)cGa>cAa		interferon, kappa							41	43	42					9																	27524894		2203	4300	6503	SO:0001583	missense	56832				cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:27524894G>A	AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"Interferons"	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.560G>A	9.37:g.27524894G>A	ENSP00000276943:p.Arg187Gln					MOB3B_ENST00000262244.5_Intron	p.R187Q	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)	1	583	+		all_neural(11;7.9e-11)	187					Q5T166	Missense_Mutation	SNP	ENST00000276943.2	37	c.560G>A	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706313	0.30232	.	.	ENSG00000147896	ENST00000276943	T	0.05447	3.44	6.16	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.872417	0.09714	N	0.765332	T	0.04227	0.0117	M	0.74546	2.27	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.00204	-1.1923	10	0.72032	D	0.01	-13.632	1.707	0.02884	0.258:0.1477:0.1175:0.4768	.	187	Q9P0W0	IFNK_HUMAN	Q	187	ENSP00000276943:R187Q	ENSP00000276943:R187Q	R	+	2	0	IFNK	27514894	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-1.383000	0.02544	-2.553000	0.00478	-0.355000	0.07637	CGA		0.398	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		27	170	0	0	0	1	0	27	170					A	27524894	G	A	27524894	3	1	79	1	0	0	0	0	1	0	0	0	7581	1058	37	1	562	1	IFNK	9	27524894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319968	27524894	113688537	9936	20253											
LINGO2	158038	broad.mit.edu	37	chr9	27950337	27950337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagacgattgccttttagGcggagggaacgcaggttaaa	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCTTTTAGGCGGAGGGAAC	0.438																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(331-333)cgC>cgT		leucine rich repeat and Ig domain containing 2							143	142	143					9																	27950337		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27950337G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.333C>T	9.37:g.27950337G>A						LINGO2_ENST00000308675.3_Silent_p.R111R	p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	782	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	111					A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.333C>T	CCDS6524.1																																																																																				0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		23	615	0	0	0	1	0	23	615					A	27950337	G	A	27950337	2	1	79	1	0	0	0	0	0	0	0	1	8848	1190	42	2		2	LINGO2	9	27950337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425443	27950337	113263094	9937	20254											
ACO1	48	broad.mit.edu	37	chr9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatgattgatggcttggGcattcttggttggggtgagt	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000379923.1_Missense_Mutation_p.G215D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	215					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGGCTTGGGCATTCTTGGT	0.418																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(643-645)gGc>gAc		aconitase 1, soluble							177	162	167					9																	32418495		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32418495G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.644G>A	9.37:g.32418495G>A	ENSP00000309477:p.Gly215Asp					ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000309951.5_Missense_Mutation_p.G215D	p.G215D	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	7	850	+			215					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.644G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966788	0.92855	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93025	0.6443	10	0.87932	D	0	-2.4516	18.8212	0.92097	0.0:0.0:1.0:0.0	.	251;215	Q59FI0;P21399	.;ACOC_HUMAN	D	251;215;215;215;116	ENSP00000309477:G215D;ENSP00000369255:G215D;ENSP00000438733:G116D	ENSP00000309477:G215D	G	+	2	0	ACO1	32408495	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	9.808000	0.99193	2.753000	0.94483	0.557000	0.71058	GGC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		19	734	0	0	0	1	0	19	734					A	32418495	G	A	32418495	3	1	79	1	0	0	0	0	1	0	0	0	146	1203	42	2	662	2	ACO1	9	32418495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4468158	32418495	108794936	9938	20255											
DDX58	23586	broad.mit.edu	37	chr9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaatctgtggagttaaaAtgatgatgtcattgttctca	9	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379883.2	-	8	1191	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	345	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGGAGTTAAAATGATGATGTC	0.383																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(898-900)aTt>aCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							168	159	162					9																	32488121		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488121A>G	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1034T>C	9.37:g.32488121A>G	ENSP00000369213:p.Ile345Thr					DDX58_ENST00000379883.2_Missense_Mutation_p.I345T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T	p.I300T			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	7	1056	-			345			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.899T>C	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367771	0.61513	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.57	4.57	0.56435	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.669254	0.13343	N	0.395009	T	0.56247	0.1972	M	0.65320	2	0.35448	D	0.795485	P;P;P;P	0.48998	0.918;0.542;0.814;0.889	P;B;P;P	0.55545	0.519;0.277;0.778;0.726	T	0.65788	-0.6083	10	0.59425	D	0.04	-1.9774	13.2283	0.59927	1.0:0.0:0.0:0.0	.	142;300;274;345	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	T	300;345;142;274;142	ENSP00000369212:I300T;ENSP00000369213:I345T;ENSP00000369197:I142T;ENSP00000442160:I274T;ENSP00000443055:I142T	ENSP00000369197:I142T	I	-	2	0	DDX58	32478121	0.997000	0.39634	0.986000	0.45419	0.910000	0.53928	6.586000	0.74067	1.846000	0.53633	0.374000	0.22700	ATT		0.383	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		98	328	0	0	0	1	0	98	328					G	32488121	A	G	32488121	3	3	79	1	0	0	0	0	1	0	0	0	4386	101	4	4	1787	4	DDX58	9	32488121	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69626	32488121	108725310	9939	20256											
TOPORS	10210	broad.mit.edu	37	chr9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgaagagacacaatgTtactgggctggttctccaaa	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1014					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGACACAATGTTACTGGGCTG	0.423																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3040-3042)aAc>aCc		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							125	122	123					9																	32541482		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541482T>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3041A>C	9.37:g.32541482T>G	ENSP00000353735:p.Asn1014Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	p.N1014T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3157	-			1014					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3041A>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	4.083	0.013251	0.07912	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.27;2.29	5.61	3.25	0.37280	.	0.126503	0.36134	N	0.002769	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.33196	0.159	T	0.22730	-1.0208	10	0.41790	T	0.15	-16.2427	4.8212	0.13392	0.0:0.1625:0.1604:0.6771	.	1014	Q9NS56	TOPRS_HUMAN	T	1014;949	ENSP00000353735:N1014T;ENSP00000369187:N949T	ENSP00000353735:N1014T	N	-	2	0	TOPORS	32531482	0.001000	0.12720	0.125000	0.21846	0.053000	0.15095	0.768000	0.26590	0.488000	0.27723	0.528000	0.53228	AAC		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		93	378	0	0	0	1	0	93	378					G	32541482	T	G	32541482	3	3	79	1	0	0	0	0	1	0	0	0	16423	1725	60	4	100	4	TOPORS	9	32541482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53361	32541482	108671949	9940	20257											
TOPORS	10210	broad.mit.edu	37	chr9	32542990	32542990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcttgtgtcttcactgtCtccattttctcataagaacc	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCACTGTCTCCATTTTCT	0.433																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1531-1533)gaG>gaA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							99	84	89					9																	32542990		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542990C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1533G>A	9.37:g.32542990C>T						TOPORS_ENST00000379858.1_Silent_p.E446E	p.E511E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1649	-			511			Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.1533G>A	CCDS6527.1																																																																																				0.433	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		52	334	0	0	0	1	0	52	334					T	32542990	C	T	32542990	2	4	79	1	0	0	0	0	0	0	0	1	16423	912	32	2		2	TOPORS	9	32542990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508	32542990	108670441	9941	20258											
TOPORS	10210	broad.mit.edu	37	chr9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacaatattcactaaagatCcatgagctccaaaaagaact	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	312	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTAAAGATCCATGAGCTCC	0.378																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(934-936)gGa>gTa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							56	54	54					9																	32543588		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543588C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.935G>T	9.37:g.32543588C>A	ENSP00000353735:p.Gly312Val					TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	p.G312V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1051	-			312			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.935G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127595	0.37533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17691	2.26;2.27	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000133	T	0.43787	0.1263	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15578	-1.0432	10	0.72032	D	0.01	-38.8045	19.1082	0.93305	0.0:1.0:0.0:0.0	.	312	Q9NS56	TOPRS_HUMAN	V	312;247	ENSP00000353735:G312V;ENSP00000369187:G247V	ENSP00000353735:G312V	G	-	2	0	TOPORS	32533588	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	4.654000	0.61469	2.805000	0.96524	0.655000	0.94253	GGA		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		56	286	1	0	2.48909e-17	1	2.74552e-17	56	286					A	32543588	C	A	32543588	3	1	79	1	0	0	0	0	1	0	0	0	16423	855	30	3	2206	3	TOPORS	9	32543588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	32543588	108669843	9942	20259											
TOPORS	10210	broad.mit.edu	37	chr9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaatctatccaagcatAtaggacacttagaatcagga	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCCAAGCATATAGGACACTT	0.393																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(313-315)aTa>aCa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							94	95	95					9																	32544209		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544209A>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.314T>C	9.37:g.32544209A>G	ENSP00000353735:p.Ile105Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	p.I105T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	430	-			105			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.314T>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972680	0.53614	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.80653	-1.4;-1.4	5.6	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000048	D	0.85596	0.5733	H	0.95043	3.615	0.53005	D	0.999962	B	0.15473	0.013	B	0.19391	0.025	D	0.83933	0.0307	10	0.87932	D	0	-22.7446	10.7379	0.46137	0.9242:0.0:0.0758:0.0	.	105	Q9NS56	TOPRS_HUMAN	T	105;40	ENSP00000353735:I105T;ENSP00000369187:I40T	ENSP00000353735:I105T	I	-	2	0	TOPORS	32534209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	1.076000	0.40961	0.533000	0.62120	ATA		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		87	411	0	0	0	1	0	87	411					G	32544209	A	G	32544209	3	3	79	1	0	0	0	0	1	0	0	0	16423	449	16	4	2827	4	TOPORS	9	32544209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	621	32544209	108669222	9943	20260											
TAF1L	138474	broad.mit.edu	37	chr9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggaatcttcacataggaGaatccttcaccacaccctgt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L	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	982					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)			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)		TCACATAGGAGAATCCTTCAC	0.507																																						ENST00000242310.4																			0				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						c.(2944-2946)ttC>ttA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							200	183	189					9																	32632632		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.chr9:32632632G>T	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.2946C>A	9.37:g.32632632G>T	ENSP00000418379:p.Phe982Leu						p.F982L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3035	-			982					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2946C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164757	0.78339	.	.	ENSG00000122728	ENST00000242310	T	0.15139	2.45	1.04	-1.05	0.10036	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.113396	0.64402	D	0.000003	T	0.41488	0.1161	M	0.94021	3.485	0.53688	D	0.999975	D	0.69078	0.997	D	0.70716	0.97	T	0.24476	-1.0159	10	0.87932	D	0	.	4.2663	0.10764	0.725:0.0:0.275:0.0	.	982	Q8IZX4	TAF1L_HUMAN	L	982	ENSP00000418379:F982L	ENSP00000418379:F982L	F	-	3	2	TAF1L	32622632	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	2.705000	0.47127	-0.347000	0.08299	0.195000	0.17529	TTC		0.507	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			20	663	1	0	2.37509e-13	1	2.56396e-13	20	663					T	32632632	G	T	32632632	3	4	79	1	0	0	0	0	1	0	0	0	15575	933	33	3	2538	3	TAF1L	9	32632632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88423	32632632	108580799	9944	20261											
TAF1L	138474	broad.mit.edu	37	chr9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctcttccttctcatcagGaatttccaaaatgaggttct	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	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	533					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)			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)		TTCTCATCAGGAATTTCCAAA	0.483																																						ENST00000242310.4																			0				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						c.(1597-1599)Cct>Tct		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							136	134	135					9																	32633981		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.chr9:32633981G>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.1597C>T	9.37:g.32633981G>A	ENSP00000418379:p.Pro533Ser					RP11-555J4.4_ENST00000430787.1_RNA	p.P533S	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1686	-			533					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1597C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937368	0.73557	.	.	ENSG00000122728	ENST00000242310	T	0.09350	2.99	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.76838	2.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.01771	-1.1277	10	0.66056	D	0.02	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	533	Q8IZX4	TAF1L_HUMAN	S	533	ENSP00000418379:P533S	ENSP00000418379:P533S	P	-	1	0	TAF1L	32623981	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	2.187000	0.42602	0.507000	0.28148	0.195000	0.17529	CCT		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			117	614	0	0	0	1	0	117	614					A	32633981	G	A	32633981	3	1	79	1	0	0	0	0	1	0	0	0	15575	1174	41	2	3887	2	TAF1L	9	32633981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1349	32633981	108579450	9945	20262											
TAF1L	138474	broad.mit.edu	37	chr9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggagtaccaaggtTtgtcatcatccagagtgggt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	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	481					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)			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)		GTACCAAGGTTTGTCATCATC	0.493																																						ENST00000242310.4																			0				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						c.(1441-1443)aAa>aGa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							193	167	176					9																	32634136		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.chr9:32634136T>C	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.1442A>G	9.37:g.32634136T>C	ENSP00000418379:p.Lys481Arg					RP11-555J4.4_ENST00000430787.1_RNA	p.K481R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1531	-			481					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1442A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224170	0.39300	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	.	0.270402	0.37095	N	0.002249	T	0.04272	0.0118	N	0.19112	0.55	0.23232	N	0.998077	B	0.11235	0.004	B	0.10450	0.005	T	0.32561	-0.9902	10	0.48119	T	0.1	.	2.6827	0.05099	0.0:0.3869:0.0:0.6131	.	481	Q8IZX4	TAF1L_HUMAN	R	481	ENSP00000418379:K481R	ENSP00000418379:K481R	K	-	2	0	TAF1L	32624136	0.969000	0.33509	0.987000	0.45799	0.502000	0.33828	0.533000	0.23082	0.426000	0.26116	0.164000	0.16699	AAA		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			121	517	0	0	0	1	0	121	517					C	32634136	T	C	32634136	3	2	79	1	0	0	0	0	1	0	0	0	15575	1841	64	4	4042	4	TAF1L	9	32634136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155	32634136	108579295	9946	20263											
TMEM215	401498	broad.mit.edu	37	chr9	32784835	32784835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccgtatgacagataCtgttgttatatcaatcagat	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(652-654)taC>taT		transmembrane protein 215							75	66	69					9																	32784835		2190	4273	6463	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784835C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.654C>T	9.37:g.32784835C>T							p.Y218Y	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	1019	+			218					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.654C>T	CCDS6530.1																																																																																				0.478	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		74	310	0	0	0	1	0	74	310					T	32784835	C	T	32784835	2	4	79	1	0	0	0	0	0	0	0	1	16190	576	20	2		2	TMEM215	9	32784835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150699	32784835	108428596	9947	20264											
APTX	54840	broad.mit.edu	37	chr9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagcattggccagagttgCtcccaggttccagccctgtc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379819.1	-	4	466	c.467G>T	c.(466-468)aGc>aTc	p.S156I	APTX_ENST00000397172.3_Intron|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379817.2_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(424-426)aGc>aTc	Editing and processing nucleases	aprataxin							134	129	131					9																	32987600		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32987600C>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.467G>T	9.37:g.32987600C>A	ENSP00000369147:p.Ser156Ile					APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000379819.1_Missense_Mutation_p.S156I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000397172.3_Intron|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I	p.S142I			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	3	621	-			156					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.425G>T		.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076943	0.07184	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91740	-1.92;-1.92;-1.91;0.85;-1.92;-1.91;-1.91;-2.9;-1.91;-2.42	5.28	0.073	0.14389	.	0.947215	0.09089	N	0.850069	D	0.86785	0.6016	L	0.56769	1.78	0.09310	N	1	B;P;B;P	0.39748	0.013;0.5;0.007;0.686	B;B;B;B	0.33750	0.011;0.116;0.022;0.169	T	0.75348	-0.3349	10	0.38643	T	0.18	-0.0846	5.0193	0.14352	0.0:0.5212:0.1438:0.335	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	I	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156I;ENSP00000311547:S156I;ENSP00000369145:S142I;ENSP00000400806:S142I;ENSP00000369147:S156I;ENSP00000420263:S142I;ENSP00000419846:S142I;ENSP00000419042:S102I;ENSP00000369141:S142I;ENSP00000419020:S102I	ENSP00000311547:S156I	S	-	2	0	APTX	32977600	0.004000	0.15560	0.055000	0.19348	0.113000	0.19764	0.523000	0.22925	0.078000	0.16900	0.650000	0.86243	AGC		0.488	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		109	560	1	0	9.98844e-40	1	1.20852e-39	109	560					A	32987600	C	A	32987600	3	1	79	1	0	0	0	0	1	0	0	0	820	797	28	3	632	3	APTX	9	32987600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202765	32987600	108225831	9948	20265											
DNAJA1	3301	broad.mit.edu	37	chr9	33029948	33029948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatggtgcaacaagaaaaCtggctctgcaaaagaatgtg	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33029948C>A	ENST00000330899.4	+	4	559	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	126					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AACAAGAAAACTGGCTCTGCA	0.318																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(376-378)Ctg>Atg		DnaJ (Hsp40) homolog, subfamily A, member 1							101	102	101					9																	33029948		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029948C>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.376C>A	9.37:g.33029948C>A	ENSP00000369127:p.Leu126Met					DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	p.L126M	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	559	+			126					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.376C>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940845	0.73557	.	.	ENSG00000086061	ENST00000330899	T	0.63255	-0.03	5.16	4.26	0.50523	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.95;0.988	T	0.77864	-0.2429	10	0.87932	D	0	-10.4543	11.8893	0.52620	0.0:0.9141:0.0:0.0859	.	126;126	Q86TL9;P31689	.;DNJA1_HUMAN	M	126	ENSP00000369127:L126M	ENSP00000369127:L126M	L	+	1	2	DNAJA1	33019948	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.001000	0.57046	1.321000	0.45227	0.462000	0.41574	CTG		0.318	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			9	501	1	0	0.00621372	1	0.0062537	9	501					A	33029948	C	A	33029948	3	1	79	1	0	0	0	0	1	0	0	0	4627	564	20	3	386	3	DNAJA1	9	33029948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42348	33029948	108183483	9949	20266											
DNAJA1	3301	broad.mit.edu	37	chr9	33034281	33034281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggactggagccaggCgatattatcattgtgttaga	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	237					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(709-711)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 1							83	79	81					9																	33034281		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33034281C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.711C>T	9.37:g.33034281C>T						DNAJA1_ENST00000544625.1_Silent_p.G80G|DNAJA1_ENST00000495015.1_3'UTR	p.G237G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	6	894	+			237					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.711C>T	CCDS6533.1																																																																																				0.368	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			12	155	0	0	0	1	0	12	155					T	33034281	C	T	33034281	2	4	79	1	0	0	0	0	0	0	0	1	4627	755	27	1		1	DNAJA1	9	33034281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4333	33034281	108179150	9950	20267											
BAG1	51510	broad.mit.edu	37	chr9	33264396	33264396	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcttcctcactcagggTcaactcctcgctccgggtca	10	16	4	0	rs574287414	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33264396T>C	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Missense_Mutation_p.T93A|BAG1_ENST00000379704.2_5'UTR|CHMP5_ENST00000419016.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACTCAGGGTCAACTCCTCG	0.682																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(277-279)Acc>Gcc		BCL2-associated athanogene							68	61	63					9																	33264396		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33264396T>C	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264396T>C	Exception_encountered					BAG1_ENST00000379704.2_5'UTR	p.T93A	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	363	-			93					B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.277A>G	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390391	0.25118	.	.	ENSG00000107262	ENST00000472232	.	.	.	3.11	-6.23	0.02052	.	1.430360	0.04945	N	0.459341	T	0.18341	0.0440	N	0.24115	0.695	0.22199	N	0.999295	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	9	0.40728	T	0.16	1.6674	0.2882	0.00255	0.3607:0.1928:0.2285:0.218	.	93	Q99933	BAG1_HUMAN	A	93	.	ENSP00000420514:T93A	T	-	1	0	BAG1	33254396	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.981000	0.03766	-2.268000	0.00685	-1.281000	0.01382	ACC		0.682	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		55	266	0	0	0	1	0	55	266					C	33264396	T	C	33264396	1	2	79	0	1	0	0	0	0	0	0	0	1287	1667	58	4		4	BAG1	9	33264396	5'Flank	SNP	T	TCGA-IB-7651-01A-11D-2154-08	230115	33264396	107949035	9951	20268											
AQP7	364	broad.mit.edu	37	chr9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcaggggcagtacctgaaGacctgtttgccccaaccagc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607																																						ENST00000541274.1																			1	Substitution - coding silent(1)	p.V246V(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(343-345)Ctt>Ttt		aquaporin 7							62	69	67					9																	33385652		2203	4299	6502	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385652G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.343C>T	9.37:g.33385652G>A	ENSP00000438860:p.Leu115Phe					AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V	p.L115F			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	792	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	AQP7	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT		0.607	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		92	513	0	0	0	1	0	92	513					A	33385652	G	A	33385652	3	1	79	1	0	0	0	0	1	0	0	0	831	929	33	2	298	2	AQP7	9	33385652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121256	33385652	107827779	9952	20269											
AQP3	360	broad.mit.edu	37	chr9	33447441	33447441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggatgagggtccccaGgcactcggccagcgcctgtc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	ENST00000297991.4	-	1	168	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	30					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGGTCCCCAGGCACTCGGCC	0.677																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(88-90)Ctg>Atg		aquaporin 3 (Gill blood group)							20	22	21					9																	33447441		2194	4298	6492	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33447441G>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"Ion channels / Aquaporins", "Blood group antigens"	636	protein-coding gene	gene with protein product	"Gill blood group"	600170	"aquaporin 3", "aquaporin 3 (GIL blood group)"			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.88C>A	9.37:g.33447441G>T	ENSP00000297991:p.Leu30Met					AQP3_ENST00000493581.1_5'UTR	p.L30M	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	1	168	-			30					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.88C>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411107	0.62399	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.87029	-2.2	5.74	3.91	0.45181	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.69185	2.1	0.50813	D	0.999891	P;D;D	0.76494	0.745;0.998;0.999	P;D;D	0.71184	0.574;0.947;0.972	D	0.89934	0.4068	10	0.56958	D	0.05	.	9.5888	0.39532	0.1625:0.0:0.8375:0.0	.	30;30;30	C9JAH5;Q92482;B4E034	.;AQP3_HUMAN;.	M	30	ENSP00000297991:L30M	ENSP00000297991:L30M	L	-	1	2	AQP3	33437441	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.387000	0.34430	0.788000	0.33755	-0.258000	0.10820	CTG		0.677	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		14	70	1	0	1.52009e-12	1	1.63397e-12	14	70					T	33447441	G	T	33447441	3	4	79	1	0	0	0	0	1	0	0	0	827	991	35	3	814	3	AQP3	9	33447441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61789	33447441	107765990	9953	20270											
NOL6	65083	broad.mit.edu	37	chr9	33463341	33463341	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggccccggcagaaggaGgcagctggcgagtccacagc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33463341G>T	ENST00000455041.2	-	23	2996	c.2937C>A	c.(2935-2937)gcC>gcA	p.A979A	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1031					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCAGAAGGAGGCAGCTGGCG	0.647																																						ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2935-2937)gcC>gcA		nucleolar protein 6 (RNA-associated)							33	35	35					9																	33463341		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463341G>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2937C>A	9.37:g.33463341G>T						NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.A979A			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	23	2996	-			1031					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000455041.2	37	c.2937C>A																																																																																					0.647	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		6	203	1	0	3.59834e-05	1	3.67436e-05	6	203					T	33463341	G	T	33463341	2	4	79	1	0	0	0	0	0	0	0	1	10567	987	35	3		3	NOL6	9	33463341	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15900	33463341	107750090	9954	20271											
NOL6	65083	broad.mit.edu	37	chr9	33468760	33468760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcacccagaaactgCaagacacttctcaggacctg	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468760C>T	ENST00000379471.2	-	8	1224	c.1137G>A	c.(1135-1137)ttG>ttA	p.L379L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L319L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	379					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAGAAACTGCAAGACACTTC	0.527																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1135-1137)ttG>ttA		nucleolar protein 6 (RNA-associated)							171	179	176					9																	33468760		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468760C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1137G>A	9.37:g.33468760C>T						NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L319L	p.L379L			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1224	-			379					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1137G>A																																																																																					0.527	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		18	1367	0	0	0	1	0	18	1367					T	33468760	C	T	33468760	2	4	79	1	0	0	0	0	0	0	0	1	10567	709	25	2		2	NOL6	9	33468760	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5419	33468760	107744671	9955	20272											
NOL6	65083	broad.mit.edu	37	chr9	33468868	33468868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccagtaaacccaccctgGccctgaaagagacagggaga	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G283G			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	343					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCCACCCTGGCCCTGAAAGA	0.582																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1027-1029)ggC>ggT		nucleolar protein 6 (RNA-associated)							123	129	127					9																	33468868		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468868G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1029C>T	9.37:g.33468868G>A						NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G283G	p.G343G			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1116	-			343					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1029C>T																																																																																					0.582	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		40	1031	0	0	0	1	0	40	1031					A	33468868	G	A	33468868	2	1	79	1	0	0	0	0	0	0	0	1	10567	1190	42	2		2	NOL6	9	33468868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	33468868	107744563	9956	20273											
UBAP2	54926	broad.mit.edu	37	chr9	33922776	33922776	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatggtgggggtgcatagCcaggggccgctcccgaggcc	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33922776C>T	ENST00000263228.3	+	0	4075				UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000379238.1_Missense_Mutation_p.G1058D	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GGGTGCATAGCCAGGGGCCGC	0.627																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(3172-3174)gGc>gAc		ubiquitin associated protein 2							59	67	64					9																	33922776		2203	4300	6503	SO:0001628	intergenic_variant	55833							g.chr9:33922776C>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922776C>T						UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D	p.G1058D			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	28	3290	-			1058					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.3173G>A	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457153	0.43634	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.65	4.74	0.60224	.	0.043360	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;P	0.69142	0.962;0.962;0.948;0.889	T	0.65619	-0.6124	10	0.87932	D	0	-17.2814	16.0953	0.81117	0.1349:0.8651:0.0:0.0	.	813;791;967;1058	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	D	1058;1058;1058;967;297;791;813;492	ENSP00000368540:G1058D;ENSP00000416932:G1058D;ENSP00000354039:G1058D;ENSP00000368537:G297D;ENSP00000368541:G791D;ENSP00000439329:G813D	ENSP00000259602:G492D	G	-	2	0	UBAP2	33912776	1.000000	0.71417	0.996000	0.52242	0.489000	0.33432	5.587000	0.67510	1.607000	0.50170	-0.181000	0.13052	GGC		0.627	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		71	291	0	0	0	1	0	71	291					T	33922776	C	T	33922776	1	4	79	0	1	0	0	0	0	0	0	0	16891	739	26	2		2	UBAP2	9	33922776	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453908	33922776	107290655	9957	20274											
UBAP2	55833	broad.mit.edu	37	chr9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcttgactgtgaggaAcaggcttctggagcaaggct	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTGAGGAACAGGCTTCTG	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(898-900)gTt>gCt		ubiquitin associated protein 2							88	83	85					9																	33953440		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33953440A>G	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.899T>C	9.37:g.33953440A>G	ENSP00000368540:p.Val300Ala					UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A|UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A	p.V300A			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	12	1016	-			300						Missense_Mutation	SNP	ENST00000379238.1	37	c.899T>C	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443080	0.25987	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.32272	2.73;2.73;2.73;2.43;2.46;2.15;1.46	5.85	3.75	0.43078	.	0.868511	0.10085	N	0.717893	T	0.12732	0.0309	N	0.05383	-0.06	0.29230	N	0.873314	B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B	0.24974	0.004;0.012;0.001;0.001;0.001;0.005;0.057	T	0.39035	-0.9633	10	0.02654	T	1	-1.2114	3.8293	0.08867	0.4813:0.1924:0.3263:0.0	.	247;225;55;33;209;225;300	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	300;300;300;209;218;33;55;247;247;154	ENSP00000368540:V300A;ENSP00000416932:V300A;ENSP00000354039:V300A;ENSP00000368541:V33A;ENSP00000439329:V55A;ENSP00000404436:V247A;ENSP00000414800:V247A	ENSP00000354039:V300A	V	-	2	0	UBAP2	33943440	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.619000	0.36965	0.527000	0.28560	0.413000	0.27773	GTT		0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		37	214	0	0	0	1	0	37	214					G	33953440	A	G	33953440	3	3	79	1	0	0	0	0	1	0	0	0	16891	43	2	4	2532	4	UBAP2	9	33953440	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30664	33953440	107259991	9958	20275											
UBAP2	55833	broad.mit.edu	37	chr9	34017072	34017072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacttgtttctgtggttgCgttgattgtgctgctgaaat	11	7	1	2	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000539807.1_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCTGTGGTTGCGTTGATTGTG	0.343																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(73-75)acG>acA		ubiquitin associated protein 2		C		0,4406		0,0,2203	145	123	130		75	3.5	0.6	9	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBAP2	NM_018449.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		25/1120	34017072	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:34017072C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.75G>A	9.37:g.34017072C>T						UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron	p.T25T			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	2	192	-			25						Silent	SNP	ENST00000379238.1	37	c.75G>A	CCDS6547.1																																																																																				0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		35	354	0	0	0	1	0	35	354					T	34017072	C	T	34017072	2	4	79	1	0	0	0	0	0	0	0	1	16891	755	27	1		1	UBAP2	9	34017072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63632	34017072	107196359	9959	20276											
KIF24	347240	broad.mit.edu	37	chr9	34263156	34263156	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcctgatccagtgctcgGatacattccttcagctgcaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000402558.2	-	8	1482	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000379166.2_Silent_p.I486I			Q5T7B8	KIF24_HUMAN	kinesin family member 24	486	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGTGCTCGGATACATTCCT	0.458																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1456-1458)atC>atT		kinesin family member 24							182	168	173					9																	34263156		1988	4160	6148	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34263156G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1458C>T	9.37:g.34263156G>A						KIF24_ENST00000402558.2_Silent_p.I486I|KIF24_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000345050.2_Silent_p.I352I	p.I486I	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		9	1577	-			486					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.1458C>T	CCDS6551.2																																																																																				0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			18	82	0	0	0	1	0	18	82					A	34263156	G	A	34263156	2	1	79	1	0	0	0	0	0	0	0	1	8322	1164	41	2		2	KIF24	9	34263156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246084	34263156	106950275	9960	20277											
KIAA1161	57462	broad.mit.edu	37	chr9	34372078	34372078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgtggatggaggtgacGtctgagcccacgcacactcg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372078G>A	ENST00000297625.7	-	2	987	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	288					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGAGGTGACGTCTGAGCCCA	0.657																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(760-762)gaC>gaT		KIAA1161							33	37	36					9																	34372078		2143	4248	6391	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372078G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.762C>T	9.37:g.34372078G>A							p.D254D	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	987	-			288					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.762C>T																																																																																					0.657	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		6	239	0	0	0	1	0	6	239					A	34372078	G	A	34372078	2	1	79	1	0	0	0	0	0	0	0	1	8241	1136	40	1		1	KIAA1161	9	34372078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108922	34372078	106841353	9961	20278											
C9orf24	84688	broad.mit.edu	37	chr9	34379117	34379117	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtctcagacacaaactcaGgatggataacatagttgttt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34379117G>T	ENST00000297623.2	-	0	1050				C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H|C9orf24_ENST00000481295.1_5'UTR|KIAA1161_ENST00000297625.7_5'Flank|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H|C9orf24_ENST00000379124.1_Missense_Mutation_p.P151H	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24						cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CACAAACTCAGGATGGATAAC	0.488											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379124.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(451-453)cCt>cAt		chromosome 9 open reading frame 24							147	125	132					9																	34379117		2203	4300	6503	SO:0001624	3_prime_UTR_variant	84688							g.chr9:34379117G>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.*63C>A	9.37:g.34379117G>T			OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	847	C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000297623.2_3'UTR|C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H	p.P151H			Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	547	-			57					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	c.452C>A	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334188	0.81801	.	.	ENSG00000164972	ENST00000379126;ENST00000379127;ENST00000379112;ENST00000379124	T;T	0.57907	0.37;0.37	5.01	5.01	0.66863	.	.	.	.	.	T	0.72779	0.3503	.	.	.	0.36652	D	0.877443	D	0.89917	1.0	D	0.91635	0.999	T	0.80082	-0.1531	8	0.87932	D	0	.	15.187	0.73009	0.0:0.0:1.0:0.0	.	98	Q8NCR6-3	.	H	98;151;81;151	ENSP00000368422:P151H;ENSP00000368419:P151H	ENSP00000368407:P81H	P	-	2	0	C9orf24	34369117	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.752000	0.85141	2.605000	0.88082	0.655000	0.94253	CCT		0.488	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		49	218	1	0	2.01807e-28	1	2.34828e-28	49	218					T	34379117	G	T	34379117	1	4	79	0	1	0	0	0	0	0	0	0	2482	1000	35	3		3	C9orf24	9	34379117	3'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7039	34379117	106834314	9962	20279											
C9orf25	203259	broad.mit.edu	37	chr9	34402709	34402709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagggcctctaccttgttCgggccatgacattgttcttc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34402709C>T	ENST00000445726.1	-	3	563	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622																																						ENST00000445726.1																			1	Substitution - Missense(1)	p.R69Q(1)	kidney(1)								c.(256-258)cGa>cAa		family with sequence similarity 219, member A							180	126	144					9																	34402709		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34402709C>T	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 25"	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.257G>A	9.37:g.34402709C>T	ENSP00000392452:p.Arg86Gln					FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q	p.R86Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			3	563	-			86					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.257G>A	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397987	0.96030	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.83275	0.995;0.99;0.996;0.99;0.979	T	0.81302	-0.0994	9	0.59425	D	0.04	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	Q	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69Q	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		51	246	0	0	0	1	0	51	246					T	34402709	C	T	34402709	3	4	79	1	0	0	0	0	1	0	0	0	2483	884	31	1	316	1	C9orf25	9	34402709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23592	34402709	106810722	9963	20280											
DNAI1	27019	broad.mit.edu	37	chr9	34500719	34500719	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctgcctgtgtgtgtttaaGattttaagtactatgacgat	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTGTTTAAGATTTTAAGTA	0.522									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.e11-1		dynein, axonemal, intermediate chain 1							58	54	55					9																	34500719		2203	4300	6503	SO:0001630	splice_region_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34500719G>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.902-1G>T	9.37:g.34500719G>T			OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848			NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	11	1072	+	all_epithelial(49;0.244)							B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Splice_Site	SNP	ENST00000242317.4	37		CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201942	0.79127	.	.	ENSG00000122735	ENST00000242317	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4324	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI1	34490719	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.857000	0.92250	2.539000	0.85634	0.563000	0.77884	.		0.522	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		Intron	14	100	1	0	0.000219431	1	0.000222766	14	100					T	34500719	G	T	34500719	5	4	79	1	0	0	0	0	0	0	1	0	4625	956	33	3	943	3	DNAI1	9	34500719	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98010	34500719	106712712	9964	20281											
DNAI1	27019	broad.mit.edu	37	chr9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcatgtgtctcgacatcCacgtggaccacccctacctg	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	392					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCTCGACATCCACGTGGACCA	0.592									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1174-1176)Cac>Aac		dynein, axonemal, intermediate chain 1							97	82	87					9																	34506735		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34506735C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1174C>A	9.37:g.34506735C>A	ENSP00000242317:p.His392Asn						p.H392N	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	13	1345	+	all_epithelial(49;0.244)		392					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1174C>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820800	0.71028	.	.	ENSG00000122735	ENST00000242317	T	0.69806	-0.43	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.79805	2.47	0.80722	D	1	B	0.25169	0.119	B	0.34590	0.186	T	0.69643	-0.5090	10	0.31617	T	0.26	.	16.1296	0.81418	0.0:1.0:0.0:0.0	.	392	Q9UI46	DNAI1_HUMAN	N	392	ENSP00000242317:H392N	ENSP00000242317:H392N	H	+	1	0	DNAI1	34496735	1.000000	0.71417	0.953000	0.39169	0.409000	0.31022	7.298000	0.78815	2.478000	0.83669	0.563000	0.77884	CAC		0.592	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			55	288	1	0	3.89483e-19	1	4.33865e-19	55	288					A	34506735	C	A	34506735	3	1	79	1	0	0	0	0	1	0	0	0	4625	594	21	3	1224	3	DNAI1	9	34506735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6016	34506735	106706696	9965	20282											
ARID3C	138715	broad.mit.edu	37	chr9	34621468	34621468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctctcagggcaagatgCtggaagggggccctgtggag	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34621468C>A	ENST00000378909.2	-	7	1318	c.1226G>T	c.(1225-1227)aGc>aTc	p.S409I	DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	409	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGGCAAGATGCTGGAAGGGGG	0.622																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1225-1227)aGc>aTc		AT rich interactive domain 3C (BRIGHT-like)							24	28	27					9																	34621468		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34621468C>A		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1226G>T	9.37:g.34621468C>A	ENSP00000368189:p.Ser409Ile						p.S409I	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	7	1318	-	all_epithelial(49;0.102)		409			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.1226G>T	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632287	0.29068	.	.	ENSG00000205143	ENST00000378909	T	0.64438	-0.1	4.37	2.52	0.30459	.	0.251286	0.28688	N	0.014467	T	0.48677	0.1513	L	0.44542	1.39	0.28118	N	0.930726	P	0.42039	0.769	B	0.39185	0.293	T	0.42916	-0.9423	10	0.42905	T	0.14	-6.1084	6.6536	0.22975	0.0:0.7823:0.0:0.2177	.	409	A6NKF2	ARI3C_HUMAN	I	409	ENSP00000368189:S409I	ENSP00000368189:S409I	S	-	2	0	ARID3C	34611468	0.001000	0.12720	0.636000	0.29352	0.735000	0.41995	0.277000	0.18734	0.593000	0.29745	0.549000	0.68633	AGC		0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		9	183	1	0	0.00448238	1	0.00451339	9	183					A	34621468	C	A	34621468	3	1	79	1	0	0	0	0	1	0	0	0	918	797	28	3	15	3	ARID3C	9	34621468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114733	34621468	106591963	9966	20283											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635839	34635839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttgcctcaccaggcccGtgtactaccgtctcccctgg	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000277010.4	-	4	535	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000477726.1_Silent_p.H123H	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CACCAGGCCCGTGTACTACCG	0.647																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(193-195)caC>caT		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						72	69	70					9																	34635839		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635839G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.462C>T	9.37:g.34635839G>A						SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000277010.4_Silent_p.H154H	p.H65H			Q99720	SGMR1_HUMAN			3	622	-			154					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.195C>T	CCDS6562.1																																																																																				0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		41	232	0	0	0	1	0	41	232					A	34635839	G	A	34635839	2	1	79	1	0	0	0	0	0	0	0	1	14366	1136	40	1		1	SIGMAR1	9	34635839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14371	34635839	106577592	9967	20284											
GALT	2592	broad.mit.edu	37	chr9	34648390	34648390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcgatctcagcaggcCtataagagtcagcatggaga	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000378842.3	+	7	666	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_ENST00000450095.2_Silent_p.A99A|GALT_ENST00000556278.1_Silent_p.A123A|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	208					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(622-624)gcC>gcA		galactose-1-phosphate uridylyltransferase							86	88	87					9																	34648390		2203	4300	6503	SO:0001819	synonymous_variant	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648390C>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.624C>A	9.37:g.34648390C>A						GALT_ENST00000450095.2_Silent_p.A99A|GALT_ENST00000556278.1_Silent_p.A123A	p.A208A	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	7	666	+	all_epithelial(49;0.102)		208					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Silent	SNP	ENST00000378842.3	37	c.624C>A	CCDS6565.1																																																																																				0.572	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		98	400	1	0	1.96202e-32	1	2.31699e-32	98	400					A	34648390	C	A	34648390	2	1	79	1	0	0	0	0	0	0	0	1	6258	668	24	3		3	GALT	9	34648390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12551	34648390	106565041	9968	20285											
CCL27	10850	broad.mit.edu	37	chr9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgaccttcctcagtaGcttgtctgagagtggctttc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	46					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582																																						ENST00000259631.4																			0				kidney(1)|large_intestine(3)|ovary(1)	5						c.(136-138)Cta>Ata		chemokine (C-C motif) ligand 27							79	67	71					9																	34662348		2203	4300	6503	SO:0001583	missense	10850				cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity	g.chr9:34662348G>T	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.136C>A	9.37:g.34662348G>T	ENSP00000259631:p.Leu46Ile					RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	p.L46I	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	194	-	all_epithelial(49;0.102)		46						Missense_Mutation	SNP	ENST00000259631.4	37	c.136C>A	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786428	0.70337	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.46	0.39613	Chemokine interleukin-8-like domain (2);	0.000000	0.43579	D	0.000546	T	0.08044	0.0201	L	0.57536	1.79	0.28183	N	0.928067	B	0.31769	0.339	B	0.33690	0.168	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.2276	7.1555	0.25635	0.0913:0.0:0.7357:0.173	.	46	Q9Y4X3	CCL27_HUMAN	I	46	ENSP00000259631:L46I	ENSP00000259631:L46I	L	-	1	2	CCL27	34652348	0.997000	0.39634	0.989000	0.46669	0.914000	0.54420	1.300000	0.33436	1.355000	0.45865	0.557000	0.71058	CTA		0.582	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		38	183	1	0	1.03484e-13	1	1.11885e-13	38	183					T	34662348	G	T	34662348	3	4	79	1	0	0	0	0	1	0	0	0	2906	962	34	3	210	3	CCL27	9	34662348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13958	34662348	106551083	9969	20286											
CCL21	6366	broad.mit.edu	37	chr9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttgtccagatgctgcAtcagctgctgcacccagagc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	87					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592																																						ENST00000259607.2																			0				large_intestine(4)	4						c.(259-261)aTg>aAg		chemokine (C-C motif) ligand 21							54	53	53					9																	34709608		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709608A>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"Chemokine ligands", "Endogenous ligands"	10620	protein-coding gene	gene with protein product	"beta chemokine exodus-2", "secondary lymphoid tissue chemokine", "Efficient Chemoattractant for Lymphocytes"	602737	"small inducible cytokine subfamily A (Cys-Cys), member 21"	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.260T>A	9.37:g.34709608A>T	ENSP00000259607:p.Met87Lys					CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	3	317	-	all_epithelial(49;0.0899)		87						Missense_Mutation	SNP	ENST00000259607.2	37	c.260T>A	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505179	0.85282	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.06449	3.3;3.3	5.51	5.51	0.81932	Chemokine interleukin-8-like domain (3);	0.085402	0.51477	D	0.000087	T	0.21267	0.0512	M	0.81239	2.535	0.44976	D	0.997993	D	0.59357	0.985	P	0.57620	0.824	T	0.00433	-1.1742	10	0.87932	D	0	-29.6242	12.2957	0.54844	1.0:0.0:0.0:0.0	.	87	O00585	CCL21_HUMAN	K	87	ENSP00000259607:M87K;ENSP00000368069:M87K	ENSP00000259607:M87K	M	-	2	0	CCL21	34699608	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.071000	0.57556	2.212000	0.71576	0.528000	0.53228	ATG		0.592	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		66	278	0	0	0	1	0	66	278					T	34709608	A	T	34709608	3	4	79	1	0	0	0	0	1	0	0	0	2900	217	8	5	152	5	CCL21	9	34709608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47260	34709608	106503823	9970	20287											
KIAA1045	23349	broad.mit.edu	37	chr9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatggcccacacagaaacaGgctggagctgccactactgt	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	182							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAAACAGGCTGGAGCTG	0.572																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(544-546)Ggc>Tgc		KIAA1045							46	61	56					9																	34972508		2041	4172	6213	SO:0001583	missense	23349						calcium ion binding	g.chr9:34972508G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.544G>T	9.37:g.34972508G>T	ENSP00000242315:p.Gly182Cys					KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C	p.G182C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	626	+			182					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.544G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	33	5.206604	0.95033	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80106	-0.1521	9	0.87932	D	0	-2.4144	18.8848	0.92372	0.0:0.0:1.0:0.0	.	182	Q9UPV7	K1045_HUMAN	C	182	.	ENSP00000242315:G182C	G	+	1	0	KIAA1045	34962508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.743000	0.91592	2.700000	0.92200	0.655000	0.94253	GGC		0.572	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		85	340	1	0	5.92634e-42	1	7.20812e-42	85	340					T	34972508	G	T	34972508	3	4	79	1	0	0	0	0	1	0	0	0	8237	1000	35	3	550	3	KIAA1045	9	34972508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262900	34972508	106240923	9971	20288											
DNAJB5	25822	broad.mit.edu	37	chr9	34993428	34993428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacggggcctgtatgaccaGtatggggaggaaggtaagag	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q|DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	66	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGTATGACCAGTATGGGGAGG	0.552																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(196-198)caG>caA		DnaJ (Hsp40) homolog, subfamily B, member 5							87	91	90					9																	34993428		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993428G>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.198G>A	9.37:g.34993428G>A						DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000312316.5_Silent_p.Q66Q	p.Q66Q			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	3210	+			66			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.198G>A	CCDS35007.1																																																																																				0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			111	456	0	0	0	1	0	111	456					A	34993428	G	A	34993428	2	1	79	1	0	0	0	0	0	0	0	1	4639	1020	36	2		2	DNAJB5	9	34993428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20920	34993428	106220003	9972	20289											
C9orf131	138724	broad.mit.edu	37	chr9	35044417	35044417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacaaaagacaaaaaactcCtgggcctctaagcacccagc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000421362.2_Silent_p.S549S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S524S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1789-1791)tcC>tcA		chromosome 9 open reading frame 131							107	109	108					9																	35044417		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35044417C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1791C>A	9.37:g.35044417C>A						C9orf131_ENST00000354479.5_Silent_p.S524S|C9orf131_ENST00000421362.2_Silent_p.S549S	p.S597S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1838	+	all_epithelial(49;0.22)		597					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.1791C>A	CCDS6572.2																																																																																				0.522	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		184	635	1	0	3.95954e-90	1	5.08228e-90	184	635					A	35044417	C	A	35044417	2	1	79	1	0	0	0	0	0	0	0	1	2464	668	24	3		3	C9orf131	9	35044417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50989	35044417	106169014	9973	20290											
C9orf131	138724	broad.mit.edu	37	chr9	35045017	35045017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaaactgcggcagagCcctgcctccagagcccctgg	12	15	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000421362.2_Silent_p.S749S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S724S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2389-2391)agC>agT		chromosome 9 open reading frame 131							130	138	135					9																	35045017		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35045017C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2391C>T	9.37:g.35045017C>T						C9orf131_ENST00000354479.5_Silent_p.S724S|C9orf131_ENST00000421362.2_Silent_p.S749S	p.S797S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2438	+	all_epithelial(49;0.22)		797					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.2391C>T	CCDS6572.2																																																																																				0.577	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		209	1075	0	0	0	1	0	209	1075					T	35045017	C	T	35045017	2	4	79	1	0	0	0	0	0	0	0	1	2464	738	26	2		2	C9orf131	9	35045017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	35045017	106168414	9974	20291											
FANCG	2189	broad.mit.edu	37	chr9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgactaattagggcggctgCccgaagctgctgcagtgccg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	514					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGCGGCTGCCCGAAGCTGC	0.567			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(1540-1542)Gca>Aca	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							92	86	88					9																	35075020		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35075020C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1540G>A	9.37:g.35075020C>T	ENSP00000367910:p.Ala514Thr					FANCG_ENST00000476212.1_Intron	p.A514T	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2031	-			514						Missense_Mutation	SNP	ENST00000378643.3	37	c.1540G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257020	0.39896	.	.	ENSG00000221829	ENST00000378643	T	0.55760	0.5	5.7	1.54	0.23209	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32941	0.0846	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	9	0.29301	T	0.29	0.5318	4.7872	0.13230	0.4716:0.354:0.0:0.1744	.	514	O15287	FANCG_HUMAN	T	514	ENSP00000367910:A514T	ENSP00000367910:A514T	A	-	1	0	FANCG	35065020	0.001000	0.12720	0.203000	0.23512	0.973000	0.67179	0.366000	0.20365	0.004000	0.14682	-0.181000	0.13052	GCA		0.567	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		47	314	0	0	0	1	0	47	314					T	35075020	C	T	35075020	3	4	79	1	0	0	0	0	1	0	0	0	5693	739	26	2	340	2	FANCG	9	35075020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30003	35075020	106138411	9975	20292											
PIGO	84720	broad.mit.edu	37	chr9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggtccccagccactaCcagcagtgtgtcattctcca	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	273					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAGCCACTACCAGCAGTGTG	0.498																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(817-819)Gta>Ata		phosphatidylinositol glycan anchor biosynthesis, class O							49	48	48					9																	35093540		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093540C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.817G>A	9.37:g.35093540C>T	ENSP00000367880:p.Val273Ile					PIGO_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I	p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	1211	-			273					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.817G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991476	0.74703	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285709	0.34386	N	0.004009	T	0.22513	0.0543	N	0.17901	0.54	0.45318	D	0.998311	P;B	0.46512	0.879;0.091	P;B	0.45639	0.488;0.114	T	0.01036	-1.1473	10	0.25106	T	0.35	-22.0031	9.7401	0.40413	0.1326:0.6196:0.2478:0.0	.	273;273	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	273	ENSP00000298004:V273I;ENSP00000367880:V273I;ENSP00000339382:V273I;ENSP00000354678:V273I	ENSP00000298004:V273I	V	-	1	0	PIGO	35083540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.894000	0.99253	0.655000	0.94253	GTA		0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		16	130	0	0	0	1	0	16	130					T	35093540	C	T	35093540	3	4	79	1	0	0	0	0	1	0	0	0	11936	507	18	2	2480	2	PIGO	9	35093540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18520	35093540	106119891	9976	20293											
PIGO	84720	broad.mit.edu	37	chr9	35095227	35095227	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggcatggtggggctgaatCtccaggatcctctgcaagga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000298004.5_Silent_p.E112E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000341666.3_Silent_p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	112					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGCTGAATCTCCAGGATCC	0.597																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(334-336)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class O							99	100	99					9																	35095227		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095227C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.336G>A	9.37:g.35095227C>T						PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000298004.5_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E	p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	730	-			112					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.336G>A	CCDS6575.1																																																																																				0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		129	554	0	0	0	1	0	129	554					T	35095227	C	T	35095227	2	4	79	1	0	0	0	0	0	0	0	1	11936	912	32	2		2	PIGO	9	35095227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1687	35095227	106118204	9977	20294											
STOML2	30968	broad.mit.edu	37	chr9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccctctcctgacctgctGcctgatttatctgttcagcc	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	240					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTGCTGCCTGATTTAT	0.557																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(718-720)gCa>gTa		stomatin (EPB72)-like 2							103	103	103					9																	35101137		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35101137G>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.719C>T	9.37:g.35101137G>A	ENSP00000348886:p.Ala240Val					STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	p.A240V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	781	-			240					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.719C>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006908	0.93287	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.99382	-4.06;-5.8	5.26	5.26	0.73747	.	0.051786	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97737	1.0206	10	0.87932	D	0	-0.1484	19.0555	0.93062	0.0:0.0:1.0:0.0	.	195;240	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	240;195	ENSP00000348886:A240V;ENSP00000395743:A195V	ENSP00000348886:A240V	A	-	2	0	STOML2	35091137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.620000	0.98373	2.739000	0.93911	0.563000	0.77884	GCA		0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		25	667	0	0	0	1	0	25	667					A	35101137	G	A	35101137	3	1	79	1	0	0	0	0	1	0	0	0	15366	1319	46	2	367	2	STOML2	9	35101137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5910	35101137	106112294	9978	20295											
STOML2	30968	broad.mit.edu	37	chr9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcataacggaggcagCggataccccagcagtcagca	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(511-513)cGc>cAc		stomatin (EPB72)-like 2							141	142	141					9																	35101490		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35101490C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.512G>A	9.37:g.35101490C>T	ENSP00000348886:p.Arg171His					STOML2_ENST00000452248.2_Intron	p.R171H	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	574	-			171					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.512G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	STOML2	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC		0.567	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		70	784	0	0	0	1	0	70	784					T	35101490	C	T	35101490	3	4	79	1	0	0	0	0	1	0	0	0	15366	768	27	1	578	1	STOML2	9	35101490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353	35101490	106111941	9979	20296											
UNC13B	10497	broad.mit.edu	37	chr9	35381663	35381663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagacagcccaagaaatTgtggatgaatttgccatgcg	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000396787.1_Silent_p.I797I|UNC13B_ENST00000378496.4_Silent_p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	785					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAAGAAATTGTGGATGAAT	0.517																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2353-2355)atT>atC		unc-13 homolog B (C. elegans)							205	189	194					9																	35381663		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381663T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2355T>C	9.37:g.35381663T>C						UNC13B_ENST00000378496.4_Silent_p.I785I|UNC13B_ENST00000396787.1_Silent_p.I797I	p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		19	2577	+	all_epithelial(49;0.212)		785					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2355T>C	CCDS6579.1																																																																																				0.517	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		125	644	0	0	0	1	0	125	644					C	35381663	T	C	35381663	2	2	79	1	0	0	0	0	0	0	0	1	17039	1800	63	4		4	UNC13B	9	35381663	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	280173	35381663	105831768	9980	20297											
UNC13B	10497	broad.mit.edu	37	chr9	35403836	35403836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagatcgcgtgctagggCtggctgtgatgcctctgagg	18	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000396787.1_Silent_p.L1559L|ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000378496.4_Silent_p.L1547L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1528	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGCTAGGGCTGGCTGTGAT	0.587																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4582-4584)Ctg>Ttg		unc-13 homolog B (C. elegans)							90	85	87					9																	35403836		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403836C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4582C>T	9.37:g.35403836C>T						UNC13B_ENST00000378496.4_Silent_p.L1547L|UNC13B_ENST00000396787.1_Silent_p.L1559L	p.L1528L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		39	4804	+	all_epithelial(49;0.212)		1528			C2 3.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.4582C>T	CCDS6579.1																																																																																				0.587	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		50	313	0	0	0	1	0	50	313					T	35403836	C	T	35403836	2	4	79	1	0	0	0	0	0	0	0	1	17039	796	28	2		2	UNC13B	9	35403836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22173	35403836	105809595	9981	20298											
RUSC2	9853	broad.mit.edu	37	chr9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccctgcagccatggCcgggcctggctccccaccca	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	532						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCCATGGCCGGGCCTGGC	0.657																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1594-1596)gCc>gTc		RUN and SH3 domain containing 2							22	24	23					9																	35548113		2200	4294	6494	SO:0001583	missense	9853					cytosol		g.chr9:35548113C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1595C>T	9.37:g.35548113C>T	ENSP00000393922:p.Ala532Val						p.A532V	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2164	+			532					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1595C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369892	0.42003	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30981	1.51;1.51	5.67	4.78	0.61160	.	0.353263	0.30244	N	0.010071	T	0.23330	0.0564	L	0.32530	0.975	0.27433	N	0.953941	B	0.16166	0.016	B	0.15870	0.014	T	0.12293	-1.0553	10	0.18710	T	0.47	-0.8445	13.4712	0.61283	0.0:0.9253:0.0:0.0747	.	532	Q8N2Y8	RUSC2_HUMAN	V	532	ENSP00000355177:A532V;ENSP00000393922:A532V	ENSP00000355177:A532V	A	+	2	0	RUSC2	35538113	0.972000	0.33761	0.971000	0.41717	0.814000	0.46013	2.759000	0.47573	1.403000	0.46800	0.655000	0.94253	GCC		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		46	192	0	0	0	1	0	46	192					T	35548113	C	T	35548113	3	4	79	1	0	0	0	0	1	0	0	0	13801	739	26	2	1597	2	RUSC2	9	35548113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144277	35548113	105665318	9982	20299											
RUSC2	9853	broad.mit.edu	37	chr9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttcgtgtgagtgttgggGactcctcccaggagttctca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	568						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTTGGGGACTCCTCCCA	0.637																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1702-1704)Gac>Aac		RUN and SH3 domain containing 2							21	24	23					9																	35548220		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35548220G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1702G>A	9.37:g.35548220G>A	ENSP00000393922:p.Asp568Asn						p.D568N	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2271	+			568					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1702G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125658	0.77436	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26957	1.7;1.7	5.86	5.86	0.93980	.	0.184440	0.47852	D	0.000209	T	0.42517	0.1206	L	0.29908	0.895	0.47862	D	0.99953	D	0.89917	1.0	D	0.83275	0.996	T	0.19745	-1.0296	10	0.59425	D	0.04	-21.526	19.1701	0.93574	0.0:0.0:1.0:0.0	.	568	Q8N2Y8	RUSC2_HUMAN	N	568	ENSP00000355177:D568N;ENSP00000393922:D568N	ENSP00000355177:D568N	D	+	1	0	RUSC2	35538220	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.601000	0.74136	2.777000	0.95525	0.655000	0.94253	GAC		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		24	137	0	0	0	1	0	24	137					A	35548220	G	A	35548220	3	1	79	1	0	0	0	0	1	0	0	0	13801	1174	41	2	1704	2	RUSC2	9	35548220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	35548220	105665211	9983	20300											
FAM166B	730112	broad.mit.edu	37	chr9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccctggtatgaaggtgCtggccacagccatggggagc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(13-15)aGc>aTc		family with sequence similarity 166, member B							83	89	87					9																	35563812		1922	4140	6062	SO:0001583	missense	730112							g.chr9:35563812C>A	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.14G>T	9.37:g.35563812C>A	ENSP00000382646:p.Ser5Ile					FAM166B_ENST00000492890.1_5'UTR	p.S5I	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			1	84	-			5					A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	c.14G>T	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292916	0.60086	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.4	3.53	0.40419	.	0.689568	0.11534	U	0.554378	T	0.40423	0.1116	N	0.22421	0.69	0.24533	N	0.994109	D;D;P;D	0.67145	0.981;0.996;0.483;0.996	P;P;B;D	0.63877	0.77;0.853;0.163;0.919	T	0.16364	-1.0405	9	0.59425	D	0.04	-5.9631	6.9594	0.24590	0.0:0.7324:0.176:0.0917	.	5;5;5;5	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	5	.	ENSP00000382646:S5I	S	-	2	0	FAM166B	35553812	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	1.156000	0.31712	0.808000	0.34231	0.650000	0.86243	AGC		0.577	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		13	181	1	0	6.72482e-11	1	7.15107e-11	13	181					A	35563812	C	A	35563812	3	1	79	1	0	0	0	0	1	0	0	0	5503	797	28	3	656	3	FAM166B	9	35563812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15592	35563812	105649619	9984	20301											
TESK1	7016	broad.mit.edu	37	chr9	35609358	35609358	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttcatcagcacctgttcCtcggcctcccaaccctggtc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	500					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACCTGTTCCTCGGCCTCCC	0.642																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1498-1500)tcC>tcA		testis-specific kinase 1							35	38	37					9																	35609358		2194	4287	6481	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609358C>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1500C>A	9.37:g.35609358C>A						TESK1_ENST00000498522.1_3'UTR	p.S500S	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1750	+			500					Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.1500C>A	CCDS6580.1																																																																																				0.642	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		18	393	1	0	2.4624e-09	1	2.59004e-09	18	393					A	35609358	C	A	35609358	2	1	79	1	0	0	0	0	0	0	0	1	15819	668	24	3		3	TESK1	9	35609358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45546	35609358	105604073	9985	20302											
CA9	768	broad.mit.edu	37	chr9	35675756	35675756	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactatactctcccaccccAggcgacccgccctggccccg	7	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTCCCACCCCAGGCGACCCGC	0.706																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.e3-1		carbonic anhydrase IX							12	15	14					9																	35675756		2014	4203	6217	SO:0001630	splice_region_variant	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35675756A>G	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.434-1A>G	9.37:g.35675756A>G								NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	537	+	all_epithelial(49;0.217)							Q5T4R1	Splice_Site	SNP	ENST00000378357.4	37		CCDS6585.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913709	0.52439	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9181	0.47148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35665756	0.999000	0.42202	0.665000	0.29768	0.679000	0.39708	3.086000	0.50159	2.071000	0.62044	0.379000	0.24179	.		0.706	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	Intron	11	217	0	0	0	1	0	11	217					G	35675756	A	G	35675756	5	3	79	1	0	0	0	0	0	0	1	0	2531	202	7	4	442	4	CA9	9	35675756	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66398	35675756	105537675	9986	20303											
TPM2	7169	broad.mit.edu	37	chr9	35685060	35685060	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggttcagaggggtcactaCctcctcctctgaggccatca	10	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	ENST00000360958.2	-	5	668				TPM2_ENST00000378292.3_Splice_Site|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTCACTACCTCCTCCTCT	0.627																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e6+1		tropomyosin 2 (beta)							88	84	85					9																	35685060		2203	4300	6503	SO:0001627	intron_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685060C>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.563+205G>T	9.37:g.35685060C>A						TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000360958.2_Intron		NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	1842	-	all_epithelial(49;0.121)							A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Splice_Site	SNP	ENST00000360958.2	37		CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595853	0.66332	.	.	ENSG00000198467	ENST00000378292	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8988	0.88897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM2	35675060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.647000	0.83462	2.538000	0.85594	0.655000	0.94253	.		0.627	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		100	367	1	0	8.87708e-63	1	1.11928e-62	100	367					A	35685060	C	A	35685060	1	1	79	0	1	0	0	0	0	0	0	0	16459	521	18	3		3	TPM2	9	35685060	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	35685060	105528371	9987	20304											
TPM2	7169	broad.mit.edu	37	chr9	35685748	35685748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaccagctgaatgcgGcggttcagggaggccacatc	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000360958.2	-	3	374	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000378292.3_Silent_p.R90R|TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(268-270)cgC>cgT		tropomyosin 2 (beta)							44	46	46					9																	35685748		2203	4300	6503	SO:0001819	synonymous_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685748G>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.270C>T	9.37:g.35685748G>A						TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000360958.2_Silent_p.R90R	p.R90R	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	1472	-	all_epithelial(49;0.121)		90					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	ENST00000360958.2	37	c.270C>T	CCDS6587.1																																																																																				0.622	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		77	367	0	0	0	1	0	77	367					A	35685748	G	A	35685748	2	1	79	1	0	0	0	0	0	0	0	1	16459	1190	42	2		2	TPM2	9	35685748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688	35685748	105527683	9988	20305											
TLN1	7094	broad.mit.edu	37	chr9	35697899	35697899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttccgaagcatttcttcCtgtgctgcgatgatctgagg	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35697899C>A	ENST00000314888.9	-	57	7868	c.7515G>T	c.(7513-7515)caG>caT	p.Q2505H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2505	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTTCTTCCTGTGCTGCGA	0.562																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(7513-7515)caG>caT		talin 1							99	90	93					9																	35697899		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35697899C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7515G>T	9.37:g.35697899C>A	ENSP00000316029:p.Gln2505His					TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	p.Q2505H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		57	7868	-	all_epithelial(49;0.167)		2505			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7515G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995911	0.54147	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.54071	0.59;0.59	5.09	0.961	0.19638	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70230	-0.4929	10	0.72032	D	0.01	-16.1363	9.2791	0.37718	0.0:0.6089:0.0:0.3911	.	2505	Q9Y490	TLN1_HUMAN	H	2505;2393	ENSP00000316029:Q2505H;ENSP00000442981:Q2393H	ENSP00000316029:Q2505H	Q	-	3	2	TLN1	35687899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.254000	0.32897	0.327000	0.23409	0.563000	0.77884	CAG		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	288	1	0	0.00307968	1	0.00310409	8	288					A	35697899	C	A	35697899	3	1	79	1	0	0	0	0	1	0	0	0	15999	680	24	3	114	3	TLN1	9	35697899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12151	35697899	105515532	9989	20306											
TLN1	7094	broad.mit.edu	37	chr9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagccacacgctttgAatgtcctgtcaactgctgct	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2273					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCTTTGAATGTCCTGTC	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6817-6819)Tca>Gca		talin 1							157	126	137					9																	35699410		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35699410A>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6817T>G	9.37:g.35699410A>C	ENSP00000316029:p.Ser2273Ala					TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	p.S2273A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		51	7170	-	all_epithelial(49;0.167)		2273					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6817T>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.590915	0.86851	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.86953	2.85	0.58432	D	0.999999	P	0.47762	0.9	P	0.54759	0.76	D	0.87951	0.2723	10	0.72032	D	0.01	-6.979	16.1379	0.81502	1.0:0.0:0.0:0.0	.	2273	Q9Y490	TLN1_HUMAN	A	2273;2161	ENSP00000316029:S2273A;ENSP00000442981:S2161A	ENSP00000316029:S2273A	S	-	1	0	TLN1	35689410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.324000	0.96373	2.221000	0.72209	0.529000	0.55759	TCA		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	208	0	0	0	1	0	10	208					C	35699410	A	C	35699410	3	2	79	1	0	0	0	0	1	0	0	0	15999	246	9	4	836	4	TLN1	9	35699410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511	35699410	105514021	9990	20307											
TLN1	7094	broad.mit.edu	37	chr9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattttcagcagccaccGctgcaggcttggcctccgag	10	15	2	0	rs373819052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1904	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCCACCGCTGCAGGCTT	0.602																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5710-5712)gCg>gTg		talin 1		G	VAL/ALA	0,4406		0,0,2203	68	71	70		5711	5.7	1	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1904/2542	35705570	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35705570G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5711C>T	9.37:g.35705570G>A	ENSP00000316029:p.Ala1904Val					TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	p.A1904V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		43	6064	-	all_epithelial(49;0.167)		1904			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5711C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058624	0.55325	0.0	1.16E-4	ENSG00000137076	ENST00000314888	T	0.25749	1.78	5.66	5.66	0.87406	Vinculin-binding site-containing domain (1);	0.102540	0.64402	D	0.000003	T	0.26085	0.0636	L	0.49350	1.555	0.80722	D	1	B	0.28324	0.207	B	0.21917	0.037	T	0.05338	-1.0891	10	0.16420	T	0.52	-10.0954	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1904	Q9Y490	TLN1_HUMAN	V	1904	ENSP00000316029:A1904V	ENSP00000316029:A1904V	A	-	2	0	TLN1	35695570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.598000	0.82745	2.662000	0.90505	0.555000	0.69702	GCG		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		120	522	0	0	0	1	0	120	522					A	35705570	G	A	35705570	3	1	79	1	0	0	0	0	1	0	0	0	15999	1087	38	1	1974	1	TLN1	9	35705570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6160	35705570	105507861	9991	20308											
TLN1	7094	broad.mit.edu	37	chr9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgggctccatggcagcccGaccctggggagaggggaggc	18	11	0	1	rs267602229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1593	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCAGCCCGACCCTGGGGA	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4777-4779)Cgg>Tgg		talin 1							39	45	43					9																	35707247		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707247G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4777C>T	9.37:g.35707247G>A	ENSP00000316029:p.Arg1593Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	p.R1593W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		37	5130	-	all_epithelial(49;0.167)		1593			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4777C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227786	0.58668	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.51;-0.53	5.69	3.84	0.44239	.	0.248692	0.42053	N	0.000764	T	0.72867	0.3514	M	0.73217	2.22	0.46298	D	0.998973	D	0.67145	0.996	P	0.51487	0.671	T	0.72584	-0.4249	10	0.62326	D	0.03	-10.573	6.5407	0.22378	0.0692:0.1302:0.6655:0.1351	.	1593	Q9Y490	TLN1_HUMAN	W	1593	ENSP00000316029:R1593W;ENSP00000442981:R1593W	ENSP00000316029:R1593W	R	-	1	2	TLN1	35697247	0.265000	0.24102	0.998000	0.56505	0.738000	0.42128	2.769000	0.47654	0.744000	0.32741	0.561000	0.74099	CGG		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		52	363	0	0	0	1	0	52	363					A	35707247	G	A	35707247	3	1	79	1	0	0	0	0	1	0	0	0	15999	1057	37	1	2932	1	TLN1	9	35707247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1677	35707247	105506184	9992	20309											
TLN1	7094	broad.mit.edu	37	chr9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcagagacaccaaccAgatatgcagcctgggaagag	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P|TLN1_ENST00000464379.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1446	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACCAACCAGATATGCAGC	0.522																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4336-4338)cTg>cCg		talin 1							58	58	58					9																	35708471		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35708471A>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4337T>C	9.37:g.35708471A>G	ENSP00000316029:p.Leu1446Pro					TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P	p.L1446P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		34	4690	-	all_epithelial(49;0.167)		1446			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4337T>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284188	0.80803	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.083774	0.50627	D	0.000107	T	0.61085	0.2319	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69423	-0.5149	10	0.87932	D	0	-9.0589	14.8386	0.70206	1.0:0.0:0.0:0.0	.	1446	Q9Y490	TLN1_HUMAN	P	1446	ENSP00000316029:L1446P;ENSP00000442981:L1446P	ENSP00000316029:L1446P	L	-	2	0	TLN1	35698471	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.335000	0.96500	1.899000	0.54978	0.459000	0.35465	CTG		0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		53	287	0	0	0	1	0	53	287					G	35708471	A	G	35708471	3	3	79	1	0	0	0	0	1	0	0	0	15999	188	7	4	3384	4	TLN1	9	35708471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1224	35708471	105504960	9993	20310											
TLN1	7094	broad.mit.edu	37	chr9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggccttgggggtagaggCtgcgtgctgagctgcagcga	19	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	939					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTAGAGGCTGCGTGCTGA	0.602																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2815-2817)Gcc>Ccc		talin 1							46	53	50					9																	35714813		2202	4300	6502	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714813C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2815G>C	9.37:g.35714813C>G	ENSP00000316029:p.Ala939Pro					TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		22	3168	-	all_epithelial(49;0.167)		939					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2815G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717139	0.48622	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.45;-0.47	5.7	2.84	0.33178	.	0.102948	0.64402	D	0.000002	T	0.63581	0.2523	L	0.60455	1.87	0.58432	D	0.999996	P	0.40398	0.716	B	0.40228	0.323	T	0.60378	-0.7275	10	0.62326	D	0.03	-5.7164	6.1779	0.20455	0.3731:0.4927:0.0:0.1343	.	939	Q9Y490	TLN1_HUMAN	P	939	ENSP00000316029:A939P;ENSP00000442981:A939P	ENSP00000316029:A939P	A	-	1	0	TLN1	35704813	0.557000	0.26546	0.994000	0.49952	0.622000	0.37654	1.239000	0.32719	0.329000	0.23460	0.655000	0.94253	GCC		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		73	440	0	0	0	1	0	73	440					G	35714813	C	G	35714813	3	3	79	1	0	0	0	0	1	0	0	0	15999	797	28	5	4954	5	TLN1	9	35714813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	35714813	105498618	9994	20311											
TLN1	7094	broad.mit.edu	37	chr9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgatggcattctgcgCagctgcattggtggccatgc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	905					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCTGCGCAGCTGCATTG	0.622																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2713-2715)Gcg>Acg		talin 1							74	79	77					9																	35715097		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715097C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2713G>A	9.37:g.35715097C>T	ENSP00000316029:p.Ala905Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	3066	-	all_epithelial(49;0.167)		905					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2713G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557532	0.65425	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.58;-0.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.37697	1.125	0.80722	D	1	B	0.31009	0.303	B	0.32393	0.145	T	0.61431	-0.7064	10	0.34782	T	0.22	-13.5951	19.7629	0.96329	0.0:1.0:0.0:0.0	.	905	Q9Y490	TLN1_HUMAN	T	905	ENSP00000316029:A905T;ENSP00000442981:A905T	ENSP00000316029:A905T	A	-	1	0	TLN1	35705097	1.000000	0.71417	0.876000	0.34364	0.431000	0.31685	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GCG		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		111	524	0	0	0	1	0	111	524					T	35715097	C	T	35715097	3	4	79	1	0	0	0	0	1	0	0	0	15999	710	25	2	5060	2	TLN1	9	35715097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284	35715097	105498334	9995	20312											
TLN1	7094	broad.mit.edu	37	chr9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctcagctgcctcccGcagccgctgctgctgctcct	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	891					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCTCCCGCAGCCGCTGC	0.612																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2671-2673)Cgg>Tgg		talin 1							32	37	35					9																	35715139		2199	4291	6490	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715139G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2671C>T	9.37:g.35715139G>A	ENSP00000316029:p.Arg891Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	3024	-	all_epithelial(49;0.167)		891					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2671C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324828	0.81580	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71461	-0.57;-0.57	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85871	0.1416	10	0.72032	D	0.01	-18.1456	13.4827	0.61345	0.0:0.0:0.5988:0.4011	.	891	Q9Y490	TLN1_HUMAN	W	891	ENSP00000316029:R891W;ENSP00000442981:R891W	ENSP00000316029:R891W	R	-	1	2	TLN1	35705139	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.674000	0.46867	1.361000	0.45981	0.561000	0.74099	CGG		0.612	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		62	326	0	0	0	1	0	62	326					A	35715139	G	A	35715139	3	1	79	1	0	0	0	0	1	0	0	0	15999	1086	38	1	5102	1	TLN1	9	35715139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	35715139	105498292	9996	20313											
TLN1	7094	broad.mit.edu	37	chr9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcttcagtgaaagtgCaaccatggtggcagcttctt	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAAAGTGCAACCATGGTG	0.532																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(7-9)Gca>Aca		talin 1							214	190	198					9																	35725685		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35725685C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7G>A	9.37:g.35725685C>T	ENSP00000316029:p.Ala3Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	360	-	all_epithelial(49;0.167)		3					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148616	0.57151	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	.	0.199179	0.53938	D	0.000058	T	0.59004	0.2162	L	0.27053	0.805	0.80722	D	1	B;B	0.34264	0.446;0.038	B;B	0.38327	0.271;0.024	T	0.54153	-0.8336	10	0.20519	T	0.43	-13.2392	19.48	0.95005	0.0:1.0:0.0:0.0	.	3;3	Q5TCU5;Q9Y490	.;TLN1_HUMAN	T	3	ENSP00000316029:A3T;ENSP00000442981:A3T	ENSP00000316029:A3T	A	-	1	0	TLN1	35715685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.025000	0.70864	2.606000	0.88127	0.655000	0.94253	GCA		0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		164	941	0	0	0	1	0	164	941					T	35725685	C	T	35725685	3	4	79	1	0	0	0	0	1	0	0	0	15999	710	25	2	7842	2	TLN1	9	35725685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10546	35725685	105487746	9997	20314											
GBA2	57704	broad.mit.edu	37	chr9	35737268	35737268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaggcctttttgtgCtgctgctgttgcagggctag	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	894					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTTTGTGCTGCTGCTGTT	0.572																																						ENST00000378103.3																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2680-2682)caG>caA		glucosidase, beta (bile acid) 2							99	88	91					9																	35737268		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737268C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2682G>A	9.37:g.35737268C>T						GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378088.1_3'UTR	p.Q894Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		17	3205	-	all_epithelial(49;0.167)		894					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.2682G>A	CCDS6589.1																																																																																				0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		71	423	0	0	0	1	0	71	423					T	35737268	C	T	35737268	2	4	79	1	0	0	0	0	0	0	0	1	6295	796	28	2		2	GBA2	9	35737268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11583	35737268	105476163	9998	20315											
GBA2	57704	broad.mit.edu	37	chr9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtcccgtagggtggggCggaggtgacacatgtttctg	17	8	1	1	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378103.3	-	9	2064	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.R514H|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	514					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGTGGGGCGGAGGTGACA	0.552																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1540-1542)cGc>cAc		glucosidase, beta (bile acid) 2		C	HIS/ARG	0,4406		0,0,2203	74	62	66		1541	0.1	0.3	9	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBA2	NM_020944.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	514/928	35739666	1,13005	2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35739666C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1541G>A	9.37:g.35739666C>T	ENSP00000367343:p.Arg514His					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|GBA2_ENST00000378103.3_Missense_Mutation_p.R514H	p.R514H			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	2054	-	all_epithelial(49;0.167)		514					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1541G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380813	0.11466	0.0	1.16E-4	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	0.104	0.14531	Six-hairpin glycosidase-like (1);	0.226574	0.44688	N	0.000428	T	0.16981	0.0408	L	0.36672	1.1	0.19300	N	0.999976	B;D;B	0.55385	0.002;0.971;0.001	B;B;B	0.41571	0.001;0.36;0.0	T	0.16012	-1.0417	9	0.41790	T	0.15	-0.8058	1.4704	0.02414	0.1622:0.3204:0.1134:0.404	.	520;514;514	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	514;514;520	.	ENSP00000367334:R514H	R	-	2	0	GBA2	35729666	0.635000	0.27199	0.295000	0.24960	0.003000	0.03518	0.345000	0.19979	0.081000	0.16988	-1.242000	0.01536	CGC		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		23	180	0	0	0	1	0	23	180					T	35739666	C	T	35739666	3	4	79	1	0	0	0	0	1	0	0	0	6295	768	27	1	1278	1	GBA2	9	35739666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2398	35739666	105473765	9999	20316											
GBA2	57704	broad.mit.edu	37	chr9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcagccacagccatcGtgtaggggtttggaagggtt	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378103.3	-	5	1524	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.T334M|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	334					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCATCGTGTAGGGGTT	0.602																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1000-1002)aCg>aTg		glucosidase, beta (bile acid) 2							85	79	81					9																	35740847		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35740847G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1001C>T	9.37:g.35740847G>A	ENSP00000367343:p.Thr334Met					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|GBA2_ENST00000378103.3_Missense_Mutation_p.T334M	p.T334M			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	1514	-	all_epithelial(49;0.167)		334					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1001C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.81	5.81	0.92471	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87969	0.2735	9	0.59425	D	0.04	-14.4858	20.0787	0.97763	0.0:0.0:1.0:0.0	.	340;334;334	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	M	334;334;340	.	ENSP00000367334:T334M	T	-	2	0	GBA2	35730847	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.800000	0.85949	2.757000	0.94681	0.462000	0.41574	ACG		0.602	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		68	265	0	0	0	1	0	68	265					A	35740847	G	A	35740847	3	1	79	1	0	0	0	0	1	0	0	0	6295	1145	40	1	1834	1	GBA2	9	35740847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1181	35740847	105472584	10000	20317											
GBA2	57704	broad.mit.edu	37	chr9	35741771	35741771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggggatagagggcatgGtagaaagcaaagtacccaca	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378103.3	-	4	1207	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Silent_p.Y228Y|GBA2_ENST00000545786.1_Silent_p.Y234Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	228					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGCATGGTAGAAAGCAA	0.592																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(682-684)taC>taT		glucosidase, beta (bile acid) 2							129	121	124					9																	35741771		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741771G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.684C>T	9.37:g.35741771G>A						GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y|GBA2_ENST00000378103.3_Silent_p.Y228Y	p.Y228Y			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	1197	-	all_epithelial(49;0.167)		228					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.684C>T	CCDS6589.1																																																																																				0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		105	466	0	0	0	1	0	105	466					A	35741771	G	A	35741771	2	1	79	1	0	0	0	0	0	0	0	1	6295	1256	44	2		2	GBA2	9	35741771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	924	35741771	105471660	10001	20318											
RGP1	57704	broad.mit.edu	37	chr9	35749374	35749374	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcgggcagatgaggcctaGgggtgccgatccctagtgtc	18	10	0	2	rs558548162		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35749374G>T	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_5'UTR|RGP1_ENST00000456972.2_Missense_Mutation_p.G24W|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGGCCTAGGGGTGCCGAT	0.682																																						ENST00000456972.2																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(70-72)Ggg>Tgg		RGP1 retrograde golgi transport homolog (S. cerevisiae)							49	58	55					9																	35749374		1921	4109	6030	SO:0001631	upstream_gene_variant	9827							g.chr9:35749374G>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749374G>T	Exception_encountered					RGP1_ENST00000378078.4_5'UTR|GBA2_ENST00000545786.1_Intron	p.G24W			Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	70	+	all_epithelial(49;0.167)		0					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.70G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452157	0.43531	.	.	ENSG00000107185	ENST00000456972	.	.	.	4.43	-0.2	0.13216	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.72032	D	0.01	.	2.7955	0.05400	0.092:0.1977:0.4314:0.2789	.	.	.	.	W	24	.	ENSP00000409466:G24W	G	+	1	0	RGP1	35739374	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.156000	0.10100	-0.072000	0.12864	0.491000	0.48974	GGG		0.682	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		18	112	1	0	1.33834e-09	1	1.40959e-09	18	112					T	35749374	G	T	35749374	1	4	79	0	1	0	0	0	0	0	0	0	13334	1000	35	3		3	RGP1	9	35749374	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7603	35749374	105464057	10002	20319											
NPR2	4882	broad.mit.edu	37	chr9	35792966	35792966	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacttcaccatcgagggcgtCtttgaggccctgcagggcag	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	187					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGAGGGCGTCTTTGAGGCCC	0.627																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(559-561)gtC>gtA		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						65	62	63					9																	35792966		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35792966C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.561C>A	9.37:g.35792966C>A							p.V187V	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	816	+	all_epithelial(49;0.161)		187					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.561C>A	CCDS6590.1																																																																																				0.627	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	414	1	0	9.95505e-16	1	1.08957e-15	21	414					A	35792966	C	A	35792966	2	1	79	1	0	0	0	0	0	0	0	1	10637	900	32	3		3	NPR2	9	35792966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43592	35792966	105420465	10003	20320											
NPR2	4882	broad.mit.edu	37	chr9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggctgacgtctatagCtttgggatcatcctgcagga	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2125-2127)agC>agA		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						86	88	88					9																	35805906		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35805906C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2127C>A	9.37:g.35805906C>A	ENSP00000341083:p.Ser709Arg						p.S709R	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		14	2382	+	all_epithelial(49;0.161)		709			Protein kinase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2127C>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816902|2.816902	0.50633|0.50633	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.78364	.|-1.17	5.82|5.82	2.0|2.0	0.26442|0.26442	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000072	D|D	0.92430|0.92430	0.7597|0.7597	H|H	0.99634|0.99634	4.67|4.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.91015|0.91015	0.4853|0.4853	5|10	.|0.72032	.|D	.|0.01	.|.	9.6933|9.6933	0.40143|0.40143	0.0:0.7216:0.0:0.2784|0.0:0.7216:0.0:0.2784	.|.	.|709;709	.|P20594-2;P20594	.|.;ANPRB_HUMAN	D|R	56|709	.|ENSP00000341083:S709R	.|ENSP00000341083:S709R	A|S	+|+	2|3	0|2	NPR2|NPR2	35795906|35795906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	2.596000|2.596000	0.46205|0.46205	0.113000|0.113000	0.18004|0.18004	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			71	354	1	0	2.48295e-43	1	3.03066e-43	71	354					A	35805906	C	A	35805906	3	1	79	1	0	0	0	0	1	0	0	0	10637	796	28	3	2181	3	NPR2	9	35805906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12940	35805906	105407525	10004	20321											
SPAG8	4882	broad.mit.edu	37	chr9	35811225	35811225	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggccccgcggcaaagttTcatagcaaaccataagcttc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811225T>G	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.E273A|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.E273A|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.E271A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CGGCAAAGTTTCATAGCAAAC	0.493																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(817-819)gAa>gCa		sperm associated antigen 8							101	117	112					9																	35811225		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811225T>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811225T>G						SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.E271A|SPAG8_ENST00000396638.2_Missense_Mutation_p.E273A	p.E273A	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	942	-	all_epithelial(49;0.161)		273					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.818A>C	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.03|13.03	2.115785|2.115785	0.37339|0.37339	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638|ENST00000497810	T;T;T|.	0.36520|.	1.25;1.3;1.29|.	5.65|5.65	3.27|3.27	0.37495|0.37495	.|.	0.693391|.	0.13793|.	N|.	0.362353|.	T|T	0.33118|0.33118	0.0852|0.0852	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;P|.	0.41673|.	0.759;0.759|.	B;B|.	0.41860|.	0.368;0.368|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.59425|.	D|.	0.04|.	-3.687|-3.687	5.4757|5.4757	0.16694|0.16694	0.0:0.0873:0.1753:0.7374|0.0:0.0873:0.1753:0.7374	.|.	273;273|.	E9PDV6;Q99932-2|.	.;.|.	A|Q	273;271;273|271	ENSP00000340982:E273A;ENSP00000418072:E271A;ENSP00000379878:E273A|.	ENSP00000340982:E273A|.	E|K	-|-	2|1	0|0	SPAG8|SPAG8	35801225|35801225	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.025000|0.025000	0.11179|0.11179	0.222000|0.222000	0.17699|0.17699	0.537000|0.537000	0.28751|0.28751	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.493	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			12	864	0	0	0	1	0	12	864					G	35811225	T	G	35811225	1	3	79	0	1	0	0	0	0	0	0	0	15036	1783	62	4		4	SPAG8	9	35811225	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5319	35811225	105402206	10005	20322											
SPAG8	4882	broad.mit.edu	37	chr9	35811564	35811564	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacagccaggaccagagCcagagccagagccatggcca	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811564C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D|TMEM8B_ENST00000377996.1_5'Flank|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.G160D|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	aggaccagagccagagccaga	0.602																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(478-480)gGc>gAc		sperm associated antigen 8							51	38	42					9																	35811564		2202	4300	6502	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811564C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811564C>T						SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D	p.G160D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	603	-	all_epithelial(49;0.161)		160			Gly-rich.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.479G>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.212648|2.212648	0.39102|0.39102	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.54279	.|0.58;0.58;0.58	4.41|4.41	-0.951|-0.951	0.10369|0.10369	.|.	.|0.504809	.|0.17191	.|N	.|0.183507	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.17433	.|0.018;0.018	T|T	0.08973|0.08973	-1.0696|-1.0696	5|10	.|0.41790	.|T	.|0.15	0.346|0.346	0.7469|0.7469	0.00984|0.00984	0.1673:0.3683:0.1629:0.3014|0.1673:0.3683:0.1629:0.3014	.|.	.|160;160	.|E9PDV6;Q99932-2	.|.;.	T|D	158|160;158;160	.|ENSP00000340982:G160D;ENSP00000418072:G158D;ENSP00000379878:G160D	.|ENSP00000340982:G160D	A|G	-|-	1|2	0|0	SPAG8|SPAG8	35801564|35801564	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.108000|0.108000	0.19459|0.19459	-0.181000|-0.181000	0.09740|0.09740	-0.156000|-0.156000	0.11079|0.11079	-0.150000|-0.150000	0.13652|0.13652	GCT|GGC		0.602	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			36	141	0	0	0	1	0	36	141					T	35811564	C	T	35811564	1	4	79	0	1	0	0	0	0	0	0	0	15036	739	26	2		2	SPAG8	9	35811564	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	35811564	105401867	10006	20323											
TMEM8B	51754	broad.mit.edu	37	chr9	35842555	35842555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgctggccagtgcgcccGactctgcgcaacgagctgga	13	15	1	0	rs548793454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377991.4	+	7	1135	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000377988.2_Silent_p.P40P|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	40					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0					ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(118-120)ccG>ccA		transmembrane protein 8B							84	67	73					9																	35842555		2203	4300	6503	SO:0001819	synonymous_variant	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35842555G>A	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.120G>A	9.37:g.35842555G>A						TMEM8B_ENST00000377991.4_Silent_p.P40P|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron	p.P40P	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			6	1408	+			40					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.120G>A	CCDS43800.1																																																																																				0.657	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		42	207	0	0	0	1	0	42	207					A	35842555	G	A	35842555	2	1	79	1	0	0	0	0	0	0	0	1	16267	1045	37	1		1	TMEM8B	9	35842555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30991	35842555	105370876	10007	20324											
OR13J1	392309	broad.mit.edu	37	chr9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacatctggatggcacagaCagcaaaggagatggtcttcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCACAGACAGCAAAGGAG	0.607																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(286-288)Gtc>Atc		olfactory receptor, family 13, subfamily J, member 1							117	112	114					9																	35870113		2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870113C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"GPCR / Class A : Olfactory receptors"	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.286G>A	9.37:g.35870113C>T	ENSP00000367219:p.Val96Ile						p.V96I	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	348	-	all_epithelial(49;0.169)		96					B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.286G>A	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068871	0.36470	.	.	ENSG00000168828	ENST00000377981	T	0.03004	4.08	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.106709	0.41823	D	0.000803	T	0.03136	0.0092	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.33574	-0.9863	10	0.87932	D	0	.	9.0204	0.36195	0.0:0.9037:0.0:0.0963	.	96	Q8NGT2	O13J1_HUMAN	I	96	ENSP00000367219:V96I	ENSP00000367219:V96I	V	-	1	0	OR13J1	35860113	0.002000	0.14202	0.211000	0.23655	0.814000	0.46013	1.811000	0.38942	2.890000	0.99128	0.650000	0.86243	GTC		0.607	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			10	293	0	0	0	1	0	10	293					T	35870113	C	T	35870113	3	4	79	1	0	0	0	0	1	0	0	0	10986	478	17	2	655	2	OR13J1	9	35870113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27558	35870113	105343318	10008	20325											
OR2S2	56656	broad.mit.edu	37	chr9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgagtgaagccttttGgtctcagcagtctcctcaca	8	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	314					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)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCTTTTGGTCTCAGCAG	0.502																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(940-942)cCa>cTa		olfactory receptor, family 2, subfamily S, member 2							79	76	77					9																	35957155		2203	4299	6502	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957155G>A	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.941C>T	9.37:g.35957155G>A	ENSP00000344040:p.Pro314Leu						p.P314L	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	996	-			314					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.941C>T	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354899	0.24512	.	.	ENSG00000122718	ENST00000341959	T	0.36520	1.25	3.94	-3.85	0.04243	.	1.656080	0.03819	N	0.267279	T	0.17023	0.0409	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.72032	D	0.01	.	2.3083	0.04180	0.1374:0.4289:0.1723:0.2615	.	314	Q9NQN1	OR2S1_HUMAN	L	314	ENSP00000344040:P314L	ENSP00000344040:P314L	P	-	2	0	OR2S2	35947155	0.022000	0.18835	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.723000	0.04915	-0.142000	0.14014	CCA		0.502	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		87	329	0	0	0	1	0	87	329					A	35957155	G	A	35957155	3	1	79	1	0	0	0	0	1	0	0	0	11057	1348	47	2	22	2	OR2S2	9	35957155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87042	35957155	105256276	10009	20326											
RECK	8434	broad.mit.edu	37	chr9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacctacagatgatctgaaGaattgtatacctttggatac	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	469					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGATCTGAAGAATTGTATAC	0.343																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1405-1407)aaG>aaT		reversion-inducing-cysteine-rich protein with kazal motifs							133	137	135					9																	36102199		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36102199G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1407G>T	9.37:g.36102199G>T	ENSP00000367202:p.Lys469Asn						p.K469N	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		12	1973	+			469					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1407G>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468555	0.26335	.	.	ENSG00000122707	ENST00000377966	T	0.44083	0.93	5.46	1.39	0.22231	.	0.168614	0.51477	D	0.000085	T	0.19485	0.0468	N	0.08118	0	0.27323	N	0.956981	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.29301	T	0.29	-12.8255	8.0352	0.30488	0.4452:0.0:0.5548:0.0	.	469;469	A8K9D8;O95980	.;RECK_HUMAN	N	469	ENSP00000367202:K469N	ENSP00000367202:K469N	K	+	3	2	RECK	36092199	0.997000	0.39634	0.687000	0.30102	0.994000	0.84299	0.863000	0.27913	0.058000	0.16222	0.655000	0.94253	AAG		0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			54	338	1	0	1.13148e-14	1	1.23148e-14	54	338					T	36102199	G	T	36102199	3	4	79	1	0	0	0	0	1	0	0	0	13250	933	33	3	1453	3	RECK	9	36102199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145044	36102199	105111232	10010	20327											
RECK	8434	broad.mit.edu	37	chr9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcagagcacagctccGtcgccgagtgtgcttctgtc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	799					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACAGCTCCGTCGCCGAGTG	0.602																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2395-2397)Gtc>Atc		reversion-inducing-cysteine-rich protein with kazal motifs							85	77	80					9																	36118895		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118895G>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2395G>A	9.37:g.36118895G>A	ENSP00000367202:p.Val799Ile						p.V799I	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	2961	+			799					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2395G>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122028	0.08931	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.43	3.24	0.37175	.	0.428349	0.23164	N	0.051203	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.12156	0.007;0.007	T	0.11275	-1.0594	10	0.21540	T	0.41	-5.8041	7.5195	0.27620	0.0:0.2918:0.4891:0.219	.	799;799	A8K9D8;O95980	.;RECK_HUMAN	I	799	ENSP00000367202:V799I	ENSP00000367202:V799I	V	+	1	0	RECK	36108895	0.665000	0.27466	0.017000	0.16124	0.059000	0.15707	1.935000	0.40173	1.388000	0.46506	0.655000	0.94253	GTC		0.602	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			16	273	0	0	0	1	0	16	273					A	36118895	G	A	36118895	3	1	79	1	0	0	0	0	1	0	0	0	13250	1145	40	1	2465	1	RECK	9	36118895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16696	36118895	105094536	10011	20328											
GLIPR2	152007	broad.mit.edu	37	chr9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaggccctggccagcaCgaggatcctcaagcacagcc	11	15	2	1	rs201812895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(145-147)aCg>aAg		GLI pathogenesis-related 2							99	83	88					9																	36148567		2203	4300	6503	SO:0001583	missense	152007					extracellular region|Golgi membrane		g.chr9:36148567C>A	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"chromosome 9 open reading frame 19"	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.146C>A	9.37:g.36148567C>A	ENSP00000367196:p.Thr49Lys					GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	p.T49K	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			3	180	+			49					Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	c.146C>A	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921361	0.52653	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.40476	1.03;2.56	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	D	0.000064	T	0.46034	0.1372	L	0.39898	1.24	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.989;0.035	P;P;P;B	0.58266	0.836;0.817;0.534;0.022	T	0.22034	-1.0228	10	0.05620	T	0.96	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	K	49	ENSP00000367195:T49K;ENSP00000367196:T49K	ENSP00000367195:T49K	T	+	2	0	GLIPR2	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG		0.592	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		17	166	1	0	9.7654e-05	1	9.93505e-05	17	166					A	36148567	C	A	36148567	3	1	79	1	0	0	0	0	1	0	0	0	6473	536	19	3	156	3	GLIPR2	9	36148567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29672	36148567	105064864	10012	20329											
CCIN	881	broad.mit.edu	37	chr9	36169849	36169849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcaacacaccacgccttcGagttcactgtaacgacttcc	5	15	2	0	rs547325705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169849G>A	ENST00000335119.2	+	1	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507																																						ENST00000335119.2																			2	Substitution - Missense(2)	p.R117L(1)|p.R117Q(1)	large_intestine(1)|lung(1)	breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(349-351)cGa>cAa		calicin							123	106	112					9																	36169849		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169849G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.350G>A	9.37:g.36169849G>A	ENSP00000334996:p.Arg117Gln						p.R117Q	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	461	+			117			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.350G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090890	0.20471	.	.	ENSG00000185972	ENST00000335119	T	0.70749	-0.51	5.26	3.4	0.38934	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.136685	0.32273	N	0.006338	T	0.51787	0.1695	L	0.28014	0.82	0.09310	N	0.999998	B	0.19331	0.035	B	0.09377	0.004	T	0.31336	-0.9947	10	0.25106	T	0.35	.	7.6467	0.28325	0.1909:0.0:0.8091:0.0	.	117	Q13939	CALI_HUMAN	Q	117	ENSP00000334996:R117Q	ENSP00000334996:R117Q	R	+	2	0	CCIN	36159849	0.121000	0.22262	0.890000	0.34922	0.900000	0.52787	0.886000	0.28241	1.358000	0.45922	-0.448000	0.05591	CGA		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		26	382	0	0	0	1	0	26	382					A	36169849	G	A	36169849	3	1	79	1	0	0	0	0	1	0	0	0	2885	1058	37	1	352	1	CCIN	9	36169849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21282	36169849	105043582	10013	20330											
CCIN	881	broad.mit.edu	37	chr9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttattaagtccatctgccGtgccaactgcttgcgctacc	7	15	1	0	rs548240661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	130					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		22001	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(388-390)cGt>cAt		calicin							136	120	125					9																	36169888		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169888G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.389G>A	9.37:g.36169888G>A	ENSP00000334996:p.Arg130His						p.R130H	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	500	+			130					Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.389G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393719	0.25205	.	.	ENSG00000185972	ENST00000335119	T	0.65178	-0.14	5.54	4.63	0.57726	.	0.253147	0.25987	N	0.027031	T	0.53142	0.1778	N	0.25647	0.755	0.31130	N	0.707876	D	0.61080	0.989	P	0.48488	0.579	T	0.60449	-0.7261	10	0.62326	D	0.03	.	9.6298	0.39772	0.0937:0.0:0.9063:0.0	.	130	Q13939	CALI_HUMAN	H	130	ENSP00000334996:R130H	ENSP00000334996:R130H	R	+	2	0	CCIN	36159888	0.073000	0.21202	0.988000	0.46212	0.978000	0.69477	1.988000	0.40697	2.770000	0.95276	0.563000	0.77884	CGT		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		78	422	0	0	0	1	0	78	422					A	36169888	G	A	36169888	3	1	79	1	0	0	0	0	1	0	0	0	2885	1145	40	1	391	1	CCIN	9	36169888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	36169888	105043543	10014	20331											
GNE	10020	broad.mit.edu	37	chr9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggatgctctgggccttcGcattgccaagtttcgcagct	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000539815.1	-	10	1947	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	636	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1999-2001)gCg>gTg		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179	154	162					9																	36218206		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36218206G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1907C>T	9.37:g.36218206G>A	ENSP00000439155:p.Ala636Val					GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000539815.1_Missense_Mutation_p.A636V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V	p.A667V	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		11	2111	-			636			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.2000C>T	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451269	0.26074	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99607	-4.8;-4.8;-4.8;-4.8;-6.27	5.58	1.28	0.21552	.	0.439248	0.28442	N	0.015329	D	0.97312	0.9121	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.001;0.0;0.0	D	0.94247	0.7490	10	0.27785	T	0.31	-8.3537	8.5766	0.33603	0.3503:0.0:0.6497:0.0	.	526;595;667;636;562	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	636;667;631;636;608;526;562	ENSP00000367134:A636V;ENSP00000379839:A667V;ENSP00000439155:A636V;ENSP00000445117:A526V;ENSP00000414760:A562V	ENSP00000340770:A631V	A	-	2	0	GNE	36208206	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	0.396000	0.20867	-0.048000	0.13401	0.561000	0.74099	GCG		0.582	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		192	738	0	0	0	1	0	192	738					A	36218206	G	A	36218206	3	1	79	1	0	0	0	0	1	0	0	0	6551	1087	38	1	269	1	GNE	9	36218206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48318	36218206	104995225	10015	20332											
GNE	10020	broad.mit.edu	37	chr9	36229026	36229026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttatactcaccaagggtaCtgtttaccaaactgaaggtg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000539815.1	-	5	1102	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000396594.3_Silent_p.Q385Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000447283.2_Silent_p.Q354Q			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	354					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1153-1155)caG>caA		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179	178	178					9																	36229026		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36229026C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1062G>A	9.37:g.36229026C>T						GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000447283.2_Silent_p.Q354Q|GNE_ENST00000539815.1_Silent_p.Q354Q|GNE_ENST00000377902.5_Silent_p.Q354Q	p.Q385Q	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		6	1266	-			354					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.1155G>A	CCDS6602.1																																																																																				0.403	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		99	446	0	0	0	1	0	99	446					T	36229026	C	T	36229026	2	4	79	1	0	0	0	0	0	0	0	1	6551	564	20	2		2	GNE	9	36229026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10820	36229026	104984405	10016	20333											
MELK	9833	broad.mit.edu	37	chr9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaccatgtgctagagacaGccaacaaaatattcatggtt	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000298048.2	+	4	419	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_3'UTR	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTAGAGACAGCCAACAAAAT	0.383																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(139-141)Gcc>Acc		maternal embryonic leucine zipper kinase							162	142	149					9																	36589623		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36589623G>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.235G>A	9.37:g.36589623G>A	ENSP00000298048:p.Ala79Thr					MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000298048.2_Missense_Mutation_p.A79T|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000541717.1_Missense_Mutation_p.A79T	p.A47T	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	284	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	79			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.139G>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634630	0.29068	.	.	ENSG00000165304	ENST00000298048;ENST00000545008;ENST00000536860;ENST00000541717;ENST00000543751	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.21	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606548	0.18547	N	0.138023	T	0.10208	0.0250	N	0.10837	0.055	0.49582	D	0.999807	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.001;0.002	T	0.18493	-1.0335	10	0.45353	T	0.12	1.4915	0.5174	0.00605	0.2484:0.2733:0.2663:0.212	.	47;79;79;79;47;79	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	T	79;79;79;79;47	ENSP00000298048:A79T;ENSP00000445452:A79T;ENSP00000439792:A79T;ENSP00000437804:A79T;ENSP00000441596:A47T	ENSP00000298048:A79T	A	+	1	0	MELK	36579623	0.482000	0.25948	0.999000	0.59377	0.994000	0.84299	0.017000	0.13399	0.213000	0.20722	0.655000	0.94253	GCC		0.383	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		21	416	0	0	0	1	0	21	416					A	36589623	G	A	36589623	3	1	79	1	0	0	0	0	1	0	0	0	9511	971	34	2	245	2	MELK	9	36589623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360597	36589623	104623808	10017	20334											
MELK	9833	broad.mit.edu	37	chr9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attagtggaagacatcctatCtagctgcaaggtataattga	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000298048.2	+	18	2124	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	647	Autoinhibitory region.|KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GACATCCTATCTAGCTGCAAG	0.458																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1843-1845)tCt>tAt		maternal embryonic leucine zipper kinase							75	72	73					9																	36677318		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36677318C>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1940C>A	9.37:g.36677318C>A	ENSP00000298048:p.Ser647Tyr					MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000298048.2_Missense_Mutation_p.S647Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y	p.S615Y	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		17	1989	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	647			KA1.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.1844C>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185524	0.78677	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	Kinase-associated KA1 (4);	0.144593	0.64402	D	0.000004	T	0.67268	0.2875	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.987;1.0;0.996;0.992	T	0.67688	-0.5606	10	0.87932	D	0	-9.3178	20.0371	0.97565	0.0:1.0:0.0:0.0	.	567;576;599;606;576;615;647	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	647;453;516;576;599;576;606;615	ENSP00000298048:S647Y;ENSP00000438226:S453Y;ENSP00000439184:S516Y;ENSP00000445452:S576Y;ENSP00000439792:S599Y;ENSP00000443550:S576Y;ENSP00000437804:S606Y;ENSP00000441596:S615Y	ENSP00000298048:S647Y	S	+	2	0	MELK	36667318	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.734000	0.93682	0.655000	0.94253	TCT		0.458	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		38	142	1	0	3.62531e-18	1	4.01709e-18	38	142					A	36677318	C	A	36677318	3	1	79	1	0	0	0	0	1	0	0	0	9511	913	32	3	2006	3	MELK	9	36677318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87695	36677318	104536113	10018	20335											
PAX5	5079	broad.mit.edu	37	chr9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcttgcgcttgttggtgtCggcgctgggggacgtgatgc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	193					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTGTTGGTGTCGGCGCTGGGG	0.682			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	41	Unknown(40)|Complex - insertion inframe(1)	p.?(40)|p.D193>GGTRAN(1)	haematopoietic_and_lymphoid_tissue(41)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(577-579)Gac>Aac		paired box 5							44	36	38					9																	37002672		2201	4298	6499	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37002672C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.577G>A	9.37:g.37002672C>T	ENSP00000350844:p.Asp193Asn					PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000414447.1_Intron	p.D193N	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	5	651	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	193					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.577G>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352389	0.61293	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;T	0.97731	-4.02;-4.01;-4.01;-4.51;-4.5;-3.68;-1.78;-2.34;-4.5;1.27	5.15	4.24	0.50183	.	0.522583	0.21064	N	0.080764	D	0.90494	0.7022	N	0.11313	0.125	0.49582	D	0.999801	P;P;B;B;B;P;B	0.44309	0.832;0.825;0.001;0.091;0.185;0.725;0.327	B;B;B;B;B;B;B	0.32393	0.145;0.091;0.002;0.009;0.011;0.051;0.034	D	0.90866	0.4742	10	0.02654	T	1	.	15.2869	0.73835	0.1415:0.8585:0.0:0.0	.	127;193;193;193;193;193;193	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	N	193;85;193;193;193;193;127;85;85;193;1	ENSP00000350844:D193N;ENSP00000367084:D193N;ENSP00000367083:D193N;ENSP00000429637:D193N;ENSP00000429291:D193N;ENSP00000404687:D127N;ENSP00000429359:D85N;ENSP00000429197:D85N;ENSP00000367078:D193N;ENSP00000429404:D1N	ENSP00000350844:D193N	D	-	1	0	PAX5	36992672	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	5.203000	0.65174	1.274000	0.44362	-0.324000	0.08512	GAC		0.682	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			10	84	0	0	0	1	0	10	84					T	37002672	C	T	37002672	3	4	79	1	0	0	0	0	1	0	0	0	11524	884	31	1	622	1	PAX5	9	37002672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325354	37002672	104210759	10019	20336											
PAX5	5079	broad.mit.edu	37	chr9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatggaactgacgctaGgcacggtgtcattgtcacac	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTGACGCTAGGCACGGTGTC	0.567			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(388-390)cCt>cAt		paired box 5							180	166	171					9																	37015015		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015015G>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.389C>A	9.37:g.37015015G>T	ENSP00000350844:p.Pro130His					PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H	p.P130H	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	463	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	130			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.389C>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922520	0.92319	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99857	0.9933	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.985;0.998;0.999;0.997;0.998;0.998;0.998	D	0.96755	0.9557	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130H;ENSP00000367084:P130H;ENSP00000367083:P130H;ENSP00000429637:P130H;ENSP00000429291:P130H;ENSP00000430773:P130H;ENSP00000429359:P22H;ENSP00000429197:P22H;ENSP00000412188:P130H;ENSP00000367078:P130H	ENSP00000350844:P130H	P	-	2	0	PAX5	37005015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT		0.567	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			26	1081	1	0	7.33628e-21	1	8.23749e-21	26	1081					T	37015015	G	T	37015015	3	4	79	1	0	0	0	0	1	0	0	0	11524	1000	35	3	818	3	PAX5	9	37015015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12343	37015015	104198416	10020	20337											
ZBTB5	9925	broad.mit.edu	37	chr9	37441319	37441319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcttgttaagaaaattCgaaatactaaaagtggactt	7	6	1	1	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1228-1230)tcG>tcA		zinc finger and BTB domain containing 5							64	71	69					9																	37441319		2203	4300	6503	SO:0001819	synonymous_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441319C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1230G>A	9.37:g.37441319C>T							p.S410S	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1418	-			410						Silent	SNP	ENST00000307750.4	37	c.1230G>A	CCDS6610.1																																																																																				0.393	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		65	271	0	0	0	1	0	65	271					T	37441319	C	T	37441319	2	4	79	1	0	0	0	0	0	0	0	1	17604	871	31	1		1	ZBTB5	9	37441319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426304	37441319	103772112	10021	20338											
POLR1E	64425	broad.mit.edu	37	chr9	37498087	37498087	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttcttttccttgttttaGccattgcacctttgtcatag	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37498087G>T	ENST00000377798.4	+	9	865		c.e9-1		POLR1E_ENST00000442009.2_Splice_Site|POLR1E_ENST00000377792.3_Splice_Site	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCTTGTTTTAGCCATTGCACC	0.517																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.e8-1		polymerase (RNA) I polypeptide E, 53kDa							101	94	97					9																	37498087		2203	4300	6503	SO:0001630	splice_region_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37498087G>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.753-1G>T	9.37:g.37498087G>T						POLR1E_ENST00000377798.4_Splice_Site|POLR1E_ENST00000442009.2_Splice_Site				Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	8	1226	+								O75395|Q5JTE3	Splice_Site	SNP	ENST00000377798.4	37		CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605924	0.28623	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0731	0.80948	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR1E	37488087	1.000000	0.71417	0.966000	0.40874	0.085000	0.17905	4.805000	0.62561	2.941000	0.99782	0.655000	0.94253	.		0.517	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490	Intron	6	312	1	0	0.248553	1	0.24873	6	312					T	37498087	G	T	37498087	5	4	79	1	0	0	0	0	0	0	1	0	12255	985	34	3	786	3	POLR1E	9	37498087	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56768	37498087	103715344	10022	20339											
FBXO10	26267	broad.mit.edu	37	chr9	37537896	37537896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggacctggatgtgcccGttctcaaagttgcagttgtc	11	11	1	0	rs573738932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37537896G>A	ENST00000432825.2	-	3	678	c.630C>T	c.(628-630)aaC>aaT	p.N210N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	210					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATGTGCCCGTTCTCAAAGT	0.498													g|||	1	0.000199681	0.0	0.0	5008	,	,		22045	0.001		0.0	False		,,,				2504	0.0					ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(628-630)aaC>aaT		F-box protein 10							82	83	83					9																	37537896		1941	4126	6067	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537896G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.630C>T	9.37:g.37537896G>A						RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	p.N210N	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	678	-			210					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.630C>T	CCDS47966.1																																																																																				0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			10	475	0	0	0	1	0	10	475					A	37537896	G	A	37537896	2	1	79	1	0	0	0	0	0	0	0	1	5751	1136	40	1		1	FBXO10	9	37537896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39809	37537896	103675535	10023	20340											
FRMPD1	22844	broad.mit.edu	37	chr9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacaggatagagaatcctAcattgcccttctagttggag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	413	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		AGAGAATCCTACATTGCCCTT	0.438																																						ENST00000539465.1																			0				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						c.(1237-1239)tAc>tGc		FERM and PDZ domain containing 1							145	133	137					9																	37735568		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37735568A>G	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.1238A>G	9.37:g.37735568A>G	ENSP00000444411:p.Tyr413Cys					FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C	p.Y413C			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	13	1831	+			413			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1238A>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818001	0.32145	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.61	0.57282	FERM domain (1);	0.173638	0.52532	D	0.000066	T	0.09423	0.0232	L	0.36672	1.1	0.46849	D	0.99922	B;B	0.14012	0.001;0.009	B;B	0.09377	0.002;0.004	T	0.11842	-1.0571	10	0.38643	T	0.18	-9.5643	9.9939	0.41887	0.92:0.0:0.08:0.0	.	282;413	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	413;413;235;282	ENSP00000366995:Y413C;ENSP00000444411:Y413C;ENSP00000437762:Y235C;ENSP00000444804:Y282C	ENSP00000366995:Y413C	Y	+	2	0	FRMPD1	37725568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.011000	0.39340	0.533000	0.62120	TAC		0.438	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		76	373	0	0	0	1	0	76	373					G	37735568	A	G	37735568	3	3	79	1	0	0	0	0	1	0	0	0	6084	391	14	4	1284	4	FRMPD1	9	37735568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197672	37735568	103477863	10024	20341											
FRMPD1	22844	broad.mit.edu	37	chr9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccctggagagtgtagacGacgtgtgctactatgacagg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		GAGTGTAGACGACGTGTGCTA	0.577																																						ENST00000539465.1																			0				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						c.(2593-2595)Gac>Aac		FERM and PDZ domain containing 1							79	76	77					9																	37744622		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744622G>A	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.2593G>A	9.37:g.37744622G>A	ENSP00000444411:p.Asp865Asn					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N	p.D865N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3186	+			865					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2593G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146103	0.21288	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.26	1.02	0.19986	.	0.517604	0.20831	N	0.084881	T	0.07188	0.0182	L	0.44542	1.39	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.37174	-0.9717	10	0.22109	T	0.4	-3.6729	10.0835	0.42404	0.0903:0.5934:0.3162:0.0	.	865	Q5SYB0	FRPD1_HUMAN	N	865	ENSP00000366995:D865N;ENSP00000444411:D865N	ENSP00000366995:D865N	D	+	1	0	FRMPD1	37734622	0.020000	0.18652	0.007000	0.13788	0.649000	0.38597	2.070000	0.41491	0.202000	0.20498	0.561000	0.74099	GAC		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		48	209	0	0	0	1	0	48	209					A	37744622	G	A	37744622	3	1	79	1	0	0	0	0	1	0	0	0	6084	1058	37	1	2651	1	FRMPD1	9	37744622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9054	37744622	103468809	10025	20342											
FRMPD1	22844	broad.mit.edu	37	chr9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaacccaggttcatctgGcccagatactgctcaggcaa	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	978						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		GGTTCATCTGGCCCAGATACT	0.522																																						ENST00000539465.1																			0				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						c.(2932-2934)gGc>gAc		FERM and PDZ domain containing 1							109	107	108					9																	37744962		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744962G>A	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.2933G>A	9.37:g.37744962G>A	ENSP00000444411:p.Gly978Asp					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D	p.G978D			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3526	+			978					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2933G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806782	0.50421	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06449	3.3;3.3	5.17	-0.546	0.11840	.	0.984665	0.08339	N	0.961171	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.45789	-0.9237	10	0.30078	T	0.28	-4.4383	8.542	0.33399	0.4994:0.0:0.5006:0.0	.	978	Q5SYB0	FRPD1_HUMAN	D	978	ENSP00000366995:G978D;ENSP00000444411:G978D	ENSP00000366995:G978D	G	+	2	0	FRMPD1	37734962	0.000000	0.05858	0.007000	0.13788	0.501000	0.33797	-0.111000	0.10807	-0.025000	0.13918	0.462000	0.41574	GGC		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		131	534	0	0	0	1	0	131	534					A	37744962	G	A	37744962	3	1	79	1	0	0	0	0	1	0	0	0	6084	1203	42	2	2991	2	FRMPD1	9	37744962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	37744962	103468469	10026	20343											
FRMPD1	22844	broad.mit.edu	37	chr9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccccctagagaccctcaaGgacagagcagagaaccccca	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				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)		AGACCCTCAAGGACAGAGCAG	0.493																																						ENST00000539465.1																			0				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						c.(3547-3549)Gga>Tga		FERM and PDZ domain containing 1							58	62	61					9																	37745576		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745576G>T	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.3547G>T	9.37:g.37745576G>T	ENSP00000444411:p.Gly1183*					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*	p.G1183*			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4140	+			1183					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.3547G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	43	10.015053	0.99318	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.33	4.44	0.53790	.	1.221790	0.05564	N	0.569825	.	.	.	.	.	.	0.24819	N	0.992599	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0487	9.9312	0.41523	0.0939:0.0:0.9061:0.0	.	.	.	.	X	1183	.	ENSP00000366995:G1183X	G	+	1	0	FRMPD1	37735576	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.888000	0.28268	1.257000	0.44085	0.561000	0.74099	GGA		0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		57	327	1	0	4.96213e-28	1	5.76155e-28	57	327					T	37745576	G	T	37745576	4	4	79	1	0	0	0	0	0	1	0	0	6084	1001	35	3	3605	3	FRMPD1	9	37745576	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614	37745576	103467855	10027	20344											
RG9MTD3	158234	broad.mit.edu	37	chr9	37777645	37777645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactcacaactggcctgaaGcattgaagaaaggagtttct	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37777645G>T	ENST00000297994.3	+	9	957	c.892G>T	c.(892-894)Gca>Tca	p.A298S	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.A238S|TRMT10B_ENST00000377753.2_Missense_Mutation_p.A211S|EXOSC3_ENST00000490516.1_5'Flank|TRMT10B_ENST00000377754.2_Missense_Mutation_p.A203S	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	298	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										CTGGCCTGAAGCATTGAAGAA	0.458																																						ENST00000297994.3																			0											c.(892-894)Gca>Tca		tRNA methyltransferase 10 homolog B (S. cerevisiae)							137	125	129					9																	37777645		1911	4118	6029	SO:0001583	missense	158234							g.chr9:37777645G>T	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 3"	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.892G>T	9.37:g.37777645G>T	ENSP00000297994:p.Ala298Ser					RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.A211S|TRMT10B_ENST00000537911.1_Missense_Mutation_p.A238S|TRMT10B_ENST00000377754.2_Missense_Mutation_p.A203S	p.A298S	NM_144964.2	NP_659401.2					9	957	+								B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.892G>T	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922755	0.92319	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.54	5.54	0.83059	.	0.048316	0.85682	D	0.000000	T	0.45498	0.1345	M	0.67569	2.06	0.80722	D	1	P;D;P;B;B	0.54397	0.568;0.966;0.537;0.024;0.154	B;P;B;B;B	0.57468	0.166;0.821;0.385;0.086;0.362	T	0.28459	-1.0043	10	0.48119	T	0.1	-15.8789	16.9836	0.86335	0.0:0.0:1.0:0.0	.	178;211;238;203;298	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	S	211;238;203;298	ENSP00000366982:A211S;ENSP00000444997:A238S;ENSP00000366983:A203S;ENSP00000297994:A298S	ENSP00000297994:A298S	A	+	1	0	RG9MTD3	37767645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.745000	0.68672	2.621000	0.88768	0.655000	0.94253	GCA		0.458	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964		22	330	1	0	1.10513e-12	1	1.18868e-12	22	330					T	37777645	G	T	37777645	3	4	79	1	0	0	0	0	1	0	0	0	13323	971	34	3	922	3	RG9MTD3	9	37777645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32069	37777645	103435786	10028	20345											
EXOSC3	51010	broad.mit.edu	37	chr9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttccatgtctttattagCaaccacaaactggccataga	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_Intron|EXOSC3_ENST00000396521.3_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	170					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(508-510)Gct>Act		exosome component 3							81	76	78					9																	37782101		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37782101C>T	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.508G>A	9.37:g.37782101C>T	ENSP00000323046:p.Ala170Thr					EXOSC3_ENST00000396521.3_Intron|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_Intron	p.A170T	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	3	520	-			170					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.508G>A	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536122	0.96460	.	.	ENSG00000107371	ENST00000327304	T	0.17854	2.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02758	-1.1114	10	0.33940	T	0.23	-1.419	17.2324	0.86988	0.0:1.0:0.0:0.0	.	170	Q9NQT5	EXOS3_HUMAN	T	170	ENSP00000323046:A170T	ENSP00000323046:A170T	A	-	1	0	EXOSC3	37772101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.801000	0.85960	2.733000	0.93635	0.655000	0.94253	GCT		0.423	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		38	315	0	0	0	1	0	38	315					T	37782101	C	T	37782101	3	4	79	1	0	0	0	0	1	0	0	0	5334	710	25	2	327	2	EXOSC3	9	37782101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4456	37782101	103431330	10029	20346											
SHB	6461	broad.mit.edu	37	chr9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctcccgcagtcgggggCtgactgtgctctccgagtct	13	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	317	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(949-951)aGc>aAc		Src homology 2 domain containing adaptor protein B							84	93	90					9																	37974723		2073	4182	6255	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974723C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.950G>A	9.37:g.37974723C>T	ENSP00000366936:p.Ser317Asn					RP11-613M10.9_ENST00000540557.1_3'UTR	p.S317N	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1515	-		all_epithelial(88;0.122)	317			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.950G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000107338	ENST00000377707	T	0.44083	0.93	5.55	5.55	0.83447	.	0.616511	0.16287	N	0.221097	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B	0.33073	0.396	B	0.26770	0.073	T	0.08513	-1.0718	10	0.30854	T	0.27	-23.0729	17.0051	0.86391	0.0:1.0:0.0:0.0	.	317	Q15464	SHB_HUMAN	N	317	ENSP00000366936:S317N	ENSP00000366936:S317N	S	-	2	0	SHB	37964723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.021000	0.57196	2.620000	0.88729	0.563000	0.77884	AGC		0.592	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			73	391	0	0	0	1	0	73	391					T	37974723	C	T	37974723	3	4	79	1	0	0	0	0	1	0	0	0	14318	797	28	2	595	2	SHB	9	37974723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192622	37974723	103238708	10030	20347											
ALDH1B1	219	broad.mit.edu	37	chr9	38396312	38396312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgtggaacttccccttGgtcatgcagggttggaaact	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	189					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ACTTCCCCTTGGTCATGCAGG	0.592																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(565-567)ttG>ttA		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						84	82	83					9																	38396312		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396312G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.567G>A	9.37:g.38396312G>A							p.L189L	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	720	+			189					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.567G>A	CCDS6615.1																																																																																				0.592	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			97	460	0	0	0	1	0	97	460					A	38396312	G	A	38396312	2	1	79	1	0	0	0	0	0	0	0	1	493	1339	47	2		2	ALDH1B1	9	38396312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421589	38396312	102817119	10031	20348											
CNTNAP3	79937	broad.mit.edu	37	chr9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcgtctgtcatcacaAtctgagtgactggcaggtgc	13	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	764	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCATCACAATCTGAGTGAC	0.453																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2290-2292)aTt>aGt		contactin associated protein-like 3							48	44	45					9																	39109231		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39109231A>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2291T>G	9.37:g.39109231A>C	ENSP00000297668:p.Ile764Ser					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	p.I764S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	15	2364	-			764			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.2291T>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181223	0.38511	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.16196	2.36;2.36;2.36	2.99	1.78	0.24846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.34337	0.0894	M	0.80422	2.495	0.44603	D	0.997579	D;D;P	0.62365	0.973;0.991;0.956	P;D;P	0.66497	0.733;0.944;0.757	T	0.10567	-1.0624	9	0.23891	T	0.37	.	7.4277	0.27109	0.8056:0.0:0.0:0.1944	.	764;763;764	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	764;763;676	ENSP00000297668:I764S;ENSP00000366884:I763S;ENSP00000350863:I676S	ENSP00000297668:I764S	I	-	2	0	CNTNAP3	39099231	0.705000	0.27846	0.002000	0.10522	0.397000	0.30659	6.375000	0.73137	0.338000	0.23692	0.254000	0.18369	ATT		0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		31	153	0	0	0	1	0	31	153					C	39109231	A	C	39109231	3	2	79	1	0	0	0	0	1	0	0	0	3657	101	4	4	1615	4	CNTNAP3	9	39109231	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	712919	39109231	102104200	10032	20349											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133078	39133078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcccgctgggggcacctCggagggtcaccgcgtcgggg	20	13	1	0	rs373851232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133078C>T	ENST00000297668.6	-	13	2004	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	644	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCACCTCGGAGGGTCAC	0.731																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1930-1932)cGa>cAa		contactin associated protein-like 3		C	GLN/ARG	1,2993		0,1,1496	4	5	5		1931	-1.2	0	9		5	0,5724		0,0,2862	no	missense	CNTNAP3	NM_033655.3	43	0,1,4358	TT,TC,CC		0.0,0.0334,0.0115	benign	644/1289	39133078	1,8717	1497	2862	4359	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133078C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1931G>A	9.37:g.39133078C>T	ENSP00000297668:p.Arg644Gln					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	p.R644Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2004	-			644			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1931G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729312	0.15507	3.34E-4	0.0	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	2.37	-1.18	0.09617	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.04452	0.0122	L	0.28274	0.84	0.09310	N	1	P;B;B;B;B	0.43352	0.804;0.055;0.108;0.259;0.011	B;B;B;B;B	0.25140	0.058;0.011;0.007;0.049;0.003	T	0.40308	-0.9570	9	0.29301	T	0.29	.	5.4154	0.16370	0.0:0.3863:0.0:0.6137	.	550;644;644;643;644	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	Q	644;643;556;550;643	ENSP00000297668:R644Q;ENSP00000366884:R643Q;ENSP00000350863:R556Q;ENSP00000320728:R550Q;ENSP00000366887:R643Q	ENSP00000297668:R644Q	R	-	2	0	CNTNAP3	39123078	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.094000	0.11094	-0.270000	0.09285	0.454000	0.30748	CGA		0.731	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		5	39	0	0	0	1	0	5	39					T	39133078	C	T	39133078	3	4	79	1	0	0	0	0	1	0	0	0	3657	884	31	1	1983	1	CNTNAP3	9	39133078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23847	39133078	102080353	10033	20350											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133095	39133095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggagggtcaccgcgtcGgggccaccgtgctgcaccac	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	ENST00000297668.6	-	13	1987	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	638	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCACCGCGTCGGGGCCACCGT	0.711																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1912-1914)ccC>ccT		contactin associated protein-like 3							6	6	6					9																	39133095		1577	2935	4512	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133095G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1914C>T	9.37:g.39133095G>A						CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	p.P638P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	1987	-			638			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1914C>T	CCDS6616.1																																																																																				0.711	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		16	30	0	0	0	1	0	16	30					A	39133095	G	A	39133095	2	1	79	1	0	0	0	0	0	0	0	1	3657	1103	39	1		1	CNTNAP3	9	39133095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	39133095	102080336	10034	20351											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140635	39140635	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagactgctcgtagagaGctgtaggagaacaccagcca	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	586	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCGTAGAGAGCTGTAGGAGA	0.463																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.e12-1		contactin associated protein-like 3							20	24	23					9																	39140635		2180	4274	6454	SO:0001630	splice_region_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140635G>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1757-1C>A	9.37:g.39140635G>T						CNTNAP3_ENST00000377656.2_Splice_Site_p.S586_splice|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586_splice|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498_splice|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493_splice	p.S586_splice	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1830	-			586			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Splice_Site	SNP	ENST00000297668.6	37	c.1756_splice	CCDS6616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633518|3.633518	0.67015|0.67015	.|.	.|.	ENSG00000106714|ENSG00000106714	ENST00000323947|ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T|T;T;T;T	0.79033|0.17054	-1.23|2.3;2.3;2.3;2.3	2.85|2.85	2.85|2.85	0.33270|0.33270	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.|.	.|.	.|.	.|.	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.90198|0.90198	3.095|3.095	0.30073|0.30073	N|N	0.809856|0.809856	D|D;D;P	0.61697|0.71674	0.99|0.989;0.998;0.604	P|P;D;B	0.60886|0.64144	0.88|0.856;0.922;0.317	T|T	0.52653|0.52653	-0.8547|-0.8547	9|9	0.66056|0.87932	D|D	0.02|0	.|.	12.7303|12.7303	0.57195|0.57195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|586;586;586	E2QRH2|Q9BZ76-2;A6NC89;Q9BZ76	.|.;.;CNTP3_HUMAN	D|Y	493|586;586;498;586	ENSP00000320728:A493D|ENSP00000297668:S586Y;ENSP00000366884:S586Y;ENSP00000350863:S498Y;ENSP00000366887:S586Y	ENSP00000320728:A493D|ENSP00000297668:S586Y	A|S	-|-	2|2	0|0	CNTNAP3|CNTNAP3	39130635|39130635	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.052000|0.052000	0.14988|0.14988	8.314000|8.314000	0.89980|0.89980	1.593000|1.593000	0.50029|0.50029	0.440000|0.440000	0.28878|0.28878	GCT|TCT		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	Missense_Mutation	55	189	1	0	4.96213e-28	1	5.76155e-28	55	189					T	39140635	G	T	39140635	5	4	79	1	0	0	0	0	0	0	1	0	3657	985	34	3	2161	3	CNTNAP3	9	39140635	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7540	39140635	102072796	10035	20352											
CNTNAP3	79937	broad.mit.edu	37	chr9	39149958	39149958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacatccagagccagaGctgttgtccaggcagcctaa	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCCAGAGCTGTTGTCCA	0.463																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1492-1494)agC>agT		contactin associated protein-like 3							24	26	25					9																	39149958		2202	4298	6500	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149958G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1494C>T	9.37:g.39149958G>A						CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000323947.7_Intron	p.S498S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1567	-			498			Laminin G-like 2.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1494C>T	CCDS6616.1																																																																																				0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		27	155	0	0	0	1	0	27	155					A	39149958	G	A	39149958	2	1	79	1	0	0	0	0	0	0	0	1	3657	962	34	2		2	CNTNAP3	9	39149958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9323	39149958	102063473	10036	20353											
FAM75A1	642265	broad.mit.edu	37	chr9	39887020	39887020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctggtagagagtgcCggagaggcctgcaggagact	16	9	0	3	rs587599672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39887020C>T	ENST00000456183.2	+	3	291	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	88					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R88R(1)									TAGAGAGTGCCGGAGAGGCCT	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15181	0.0		0.0	False		,,,				2504	0.0					ENST00000456183.2																			1	Substitution - coding silent(1)	p.R88R(1)	lung(1)								c.(262-264)Cgg>Tgg		SPATA31 subfamily A, member 2							82	86	84					9																	39887020		1837	4048	5885	SO:0001583	missense	642265							g.chr9:39887020C>T			9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A2"	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.262C>T	9.37:g.39887020C>T	ENSP00000406957:p.Arg88Trp						p.R88W	NM_001040065.1	NP_001035154.1					3	291	+									Missense_Mutation	SNP	ENST00000456183.2	37	c.262C>T	CCDS43809.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599059	0.13939	.	.	ENSG00000204848	ENST00000456183	T	0.04603	3.59	1.51	1.51	0.23008	.	0.630203	0.12182	N	0.492007	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.42447	-0.9451	10	0.37606	T	0.19	.	6.4898	0.22109	0.0:1.0:0.0:0.0	.	88	Q5RGS2	F75A2_HUMAN	W	88	ENSP00000406957:R88W	ENSP00000406957:R88W	R	+	1	2	FAM75A2	39877020	0.001000	0.12720	0.039000	0.18376	0.008000	0.06430	0.141000	0.16076	1.172000	0.42781	0.184000	0.17185	CGG		0.602	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037739.1	NM_001040065		103	677	0	0	0	1	0	103	677					T	39887020	C	T	39887020	3	4	79	1	0	0	0	0	1	0	0	0	5644	643	23	1	4332	1	FAM75A1	9	39887020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	737062	39887020	101326411	10037	20354											
FAM75A3	727830	broad.mit.edu	37	chr9	40702763	40702763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccagtcctctcatgaGcctatggaagatgctgctcc	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40702763G>A	ENST00000356699.5	+	4	449	c.420G>A	c.(418-420)gaG>gaA	p.E140E	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	140	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCTCATGAGCCTATGGAAG	0.587																																						ENST00000356699.5																			0											c.(418-420)gaG>gaA		SPATA31 subfamily A, member 3							57	68	64					9																	40702763		1906	4083	5989	SO:0001819	synonymous_variant	727830							g.chr9:40702763G>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.420G>A	9.37:g.40702763G>A						SPATA31A3_ENST00000463536.1_3'UTR	p.E140E	NM_001083124.1	NP_001076593.1					4	449	+									Silent	SNP	ENST00000356699.5	37	c.420G>A	CCDS47969.1																																																																																				0.587	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		117	1159	0	0	0	1	0	117	1159					A	40702763	G	A	40702763	2	1	79	1	0	0	0	0	0	0	0	1	5646	962	34	2		2	FAM75A3	9	40702763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815743	40702763	100510668	10038	20355											
FAM75A6	389730	broad.mit.edu	37	chr9	43627680	43627680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccaaatgttgaccttgGctgtttctgtgacttgtatc	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:43627680G>A	ENST00000332857.6	-	4	1035	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	336					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTGACCTTGGCTGTTTCTGT	0.443																																						ENST00000332857.6																			0											c.(1006-1008)gCc>gTc		SPATA31 subfamily A, member 6							1	1	1					9																	43627680		24	140	164	SO:0001583	missense	389730							g.chr9:43627680G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1007C>T	9.37:g.43627680G>A	ENSP00000329825:p.Ala336Val						p.A336V	NM_001145196.1	NP_001138668.1					4	1035	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1007C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.892611	0.00522	.	.	ENSG00000185775	ENST00000332857	T	0.03330	3.97	1.79	-0.573	0.11742	.	1.722080	0.03443	N	0.209565	T	0.02649	0.0080	N	0.17594	0.5	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.44636	-0.9315	10	0.17369	T	0.5	0.0186	4.0945	0.09985	0.5815:0.0:0.4185:0.0	.	336	Q5VVP1	F75A6_HUMAN	V	336	ENSP00000329825:A336V	ENSP00000329825:A336V	A	-	2	0	FAM75A6	43567676	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-0.139000	0.11414	0.298000	0.19748	GCC		0.443	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		40	561	0	0	0	1	0	40	561					A	43627680	G	A	43627680	3	1	79	1	0	0	0	0	1	0	0	0	5647	1203	42	2	3028	2	FAM75A6	9	43627680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2924917	43627680	97585751	10039	20356											
CBWD6	644019	broad.mit.edu	37	chr9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttgtacctaagtgtcGttcttaatttctttacatct	4	8	4	0	rs200937603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M|CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	218							ATP binding (GO:0005524)			lung(4)	4						CCTAAGTGTCGTTCTTAATTT	0.338																																						ENST00000377457.5																			0				lung(4)	4						c.(652-654)aCg>aTg		COBW domain containing 6		G	MET/THR	1,2703		0,1,1351	120	163	147		653	0.3	0	9		147	8,4634		0,8,2313	yes	missense	CBWD6	NM_001085457.1	81	0,9,3664	AA,AG,GG		0.1723,0.037,0.1225	benign	218/396	69238239	9,7337	1352	2321	3673	SO:0001583	missense	644019						ATP binding	g.chr9:69238239G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.653C>T	9.37:g.69238239G>A	ENSP00000366677:p.Thr218Met					CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M|CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M	p.T218M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	758	-			218						Missense_Mutation	SNP	ENST00000377457.5	37	c.653C>T	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189171	0.09547	3.7E-4	0.001723	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.42900	0.96;0.96;0.96	2.35	0.321	0.15883	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.752267	0.13009	N	0.421042	T	0.32466	0.0830	L	0.47190	1.495	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23619	-1.0183	10	0.46703	T	0.11	-14.1278	7.2111	0.25935	0.2597:0.0:0.7403:0.0	.	218	Q4V339	CBWD6_HUMAN	M	218;182;198;218	ENSP00000366677:T218M;ENSP00000366668:T182M;ENSP00000371836:T198M	ENSP00000366664:T218M	T	-	2	0	CBWD6	68528059	0.086000	0.21541	0.040000	0.18447	0.263000	0.26337	0.873000	0.28052	-0.123000	0.11745	-1.109000	0.02080	ACG		0.338	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		14	469	0	0	0	1	0	14	469					A	69238239	G	A	69238239	3	1	79	1	0	0	0	0	1	0	0	0	2723	1145	40	1	566	1	CBWD6	9	69238239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25610559	69238239	71975192	10040	20357											
PGM5	5239	broad.mit.edu	37	chr9	71098868	71098868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacaaatccttcattggCcagcagtttgctgtggggag	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	461					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1381-1383)ggC>ggT		phosphoglucomutase 5							136	116	123					9																	71098868		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098868C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1383C>T	9.37:g.71098868C>T							p.G461G	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1612	+			461					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1383C>T	CCDS6622.2																																																																																				0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		71	361	0	0	0	1	0	71	361					T	71098868	C	T	71098868	2	4	79	1	0	0	0	0	0	0	0	1	11843	726	26	2		2	PGM5	9	71098868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1860629	71098868	70114563	10041	20358											
PIP5K1B	8395	broad.mit.edu	37	chr9	71532675	71532675	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacagagaacccagacaCgtaagtgcagccacacacct	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	328	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCCAGACACGTAAGTGCAG	0.517																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.e9+1		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							72	68	70					9																	71532675		2203	4300	6503	SO:0001630	splice_region_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71532675C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.983+1C>T	9.37:g.71532675C>T						PIP5K1B_ENST00000541509.1_Splice_Site_p.T328_splice	p.T328_splice	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	9	1288	+			328			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Splice_Site	SNP	ENST00000265382.3	37	c.983_splice	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702089	0.48307	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110476	0.56097	D	0.000021	T	0.36193	0.0958	M	0.66439	2.03	0.58432	D	0.999992	P	0.44877	0.845	B	0.40782	0.34	T	0.13629	-1.0502	10	0.20046	T	0.44	-10.8614	19.4619	0.94921	0.0:1.0:0.0:0.0	.	328	O14986	PI51B_HUMAN	I	328;328;328;275	ENSP00000438082:T328I;ENSP00000265382:T328I	ENSP00000265382:T328I	T	+	2	0	PIP5K1B	70722495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.287000	0.59001	2.592000	0.87571	0.655000	0.94253	ACA		0.517	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	Missense_Mutation	50	229	0	0	0	1	0	50	229					T	71532675	C	T	71532675	5	4	79	1	0	0	0	0	0	0	1	0	11982	550	19	1	1005	1	PIP5K1B	9	71532675	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	433807	71532675	69680756	10042	20359											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgttcctagccctgggatCccgacacaggccagacctgg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	456					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCCCTGGGATCCCGACACAGG	0.433																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1366-1368)tCc>tTc		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							249	202	218					9																	71555571		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555571C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1367C>T	9.37:g.71555571C>T	ENSP00000265382:p.Ser456Phe					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1672	+			456					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1367C>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872575	0.51695	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27890	1.67;1.64	5.78	5.78	0.91487	.	0.172614	0.53938	D	0.000054	T	0.34483	0.0899	L	0.53249	1.67	0.50171	D	0.999853	B	0.30455	0.28	B	0.28916	0.096	T	0.05402	-1.0887	10	0.40728	T	0.16	-0.1659	20.0065	0.97435	0.0:1.0:0.0:0.0	.	456	O14986	PI51B_HUMAN	F	456;456;456;403	ENSP00000438082:S456F;ENSP00000265382:S456F	ENSP00000265382:S456F	S	+	2	0	PIP5K1B	70745391	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.526000	0.67116	2.731000	0.93534	0.655000	0.94253	TCC		0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		133	629	0	0	0	1	0	133	629					T	71555571	C	T	71555571	3	4	79	1	0	0	0	0	1	0	0	0	11982	855	30	2	1409	2	PIP5K1B	9	71555571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22896	71555571	69657860	10043	20360											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555659	71555659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcatcttcttccttataCgtcaatgagcactatccaca	3	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	485					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTCCTTATACGTCAATGAGC	0.473																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1453-1455)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							305	237	260					9																	71555659		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555659C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1455C>T	9.37:g.71555659C>T						PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1760	+			485					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1455C>T	CCDS6624.1																																																																																				0.473	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		153	593	0	0	0	1	0	153	593					T	71555659	C	T	71555659	2	4	79	1	0	0	0	0	0	0	0	1	11982	547	19	1		1	PIP5K1B	9	71555659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	71555659	69657772	10044	20361											
PRKACG	5568	broad.mit.edu	37	chr9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcacctgcaggtagccCtgctggtcgatgaggagatt	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(532-534)caG>caT		protein kinase, cAMP-dependent, catalytic, gamma							41	40	40					9																	71628475		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628475C>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.534G>T	9.37:g.71628475C>A	ENSP00000366488:p.Gln178His						p.Q178H	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	564	-			178			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.534G>T	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296432	0.05532	.	.	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.6	-3.21	0.05140	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	0.29964	U	0.010749	T	0.03477	0.0100	N	0.22421	0.69	0.25935	N	0.982946	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.21014	T	0.42	.	1.4287	0.02328	0.2056:0.4383:0.203:0.1532	.	178	P22612	KAPCG_HUMAN	H	178	ENSP00000366488:Q178H	ENSP00000366488:Q178H	Q	-	3	2	PRKACG	70818295	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	-2.528000	0.00945	-1.501000	0.01817	-0.373000	0.07131	CAG		0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			37	112	1	0	3.93418e-24	1	4.48831e-24	37	112					A	71628475	C	A	71628475	3	1	79	1	0	0	0	0	1	0	0	0	12546	680	24	3	525	3	PRKACG	9	71628475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72816	71628475	69584956	10045	20362											
PRKACG	5568	broad.mit.edu	37	chr9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagtgtaggtactggaCggccaggacgacctgggcgg	19	9	0	0	rs371210848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTACTGGACGGCCAGGACG	0.622																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(463-465)Gtc>Atc		protein kinase, cAMP-dependent, catalytic, gamma							56	49	51					9																	71628546		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628546C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.463G>A	9.37:g.71628546C>T	ENSP00000366488:p.Val155Ile						p.V155I	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	493	-			155			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.463G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878012	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.08008	3.14	1.49	-2.77	0.05877	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	0.32028	U	0.006695	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.33111	-0.9881	10	0.31617	T	0.26	.	0.4807	0.00547	0.4379:0.2053:0.1547:0.2021	.	155	P22612	KAPCG_HUMAN	I	155	ENSP00000366488:V155I	ENSP00000366488:V155I	V	-	1	0	PRKACG	70818366	0.241000	0.23857	0.000000	0.03702	0.002000	0.02628	1.058000	0.30504	-1.715000	0.01389	-0.520000	0.04383	GTC		0.622	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			32	117	0	0	0	1	0	32	117					T	71628546	C	T	71628546	3	4	79	1	0	0	0	0	1	0	0	0	12546	536	19	1	596	1	PRKACG	9	71628546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	71628546	69584885	10046	20363											
TJP2	9414	broad.mit.edu	37	chr9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactttgaaaatggagaaaCgtcaattgtcatttctgatg	8	7	3	3	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AATGGAGAAACGTCAATTGTC	0.512													C|||	5	0.000998403	0.0008	0.0	5008	,	,		14140	0.0		0.004	False		,,,				2504	0.0					ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(184-186)aCg>aTg		tight junction protein 2		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102	91	95		116,197,278,185,185,185	5.6	0.1	9	dbSNP_134	95	24,8576	17.3+/-56.4	0,24,4276	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	81,81,81,81,81,81	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/1021,66/1158,93/1222,62/994,62/1191,62/1044	71831325	25,12981	2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71831325C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.185C>T	9.37:g.71831325C>T	ENSP00000366453:p.Thr62Met					TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M	p.T62M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			3	393	+			62			PDZ 1.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.185C>T	CCDS6627.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	23.5	4.421998	0.83559	2.27E-4	0.002791	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.095459	0.64402	D	0.000001	T	0.43456	0.1248	N	0.21142	0.635	0.52099	D	0.999947	D;D;P;D;P	0.89917	1.0;0.959;0.744;0.967;0.859	D;P;B;P;B	0.66351	0.943;0.639;0.129;0.754;0.259	T	0.33828	-0.9853	10	0.56958	D	0.05	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	93;66;62;62;62	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	39;39;39;62;62;62;66;93	ENSP00000392178:T39M;ENSP00000366469:T39M;ENSP00000402941:T39M;ENSP00000366453:T62M;ENSP00000345893:T62M;ENSP00000265384:T62M;ENSP00000442090:T66M;ENSP00000438262:T93M	ENSP00000265384:T62M	T	+	2	0	TJP2	71021145	1.000000	0.71417	0.121000	0.21740	0.327000	0.28475	4.637000	0.61346	2.805000	0.96524	0.655000	0.94253	ACG		0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		41	268	0	0	0	1	0	41	268					T	71831325	C	T	71831325	3	4	79	1	0	0	0	0	1	0	0	0	15982	536	19	1	352	1	TJP2	9	71831325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202779	71831325	69382106	10047	20364											
TJP2	9414	broad.mit.edu	37	chr9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacactgtatgacggcaagCtgggcaactggctggctgtg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	642	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1924-1926)Ctg>Atg		tight junction protein 2							105	96	99					9																	71851087		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851087C>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1924C>A	9.37:g.71851087C>A	ENSP00000366453:p.Leu642Met					TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M	p.L642M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			13	2132	+			642			SH3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1924C>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977115	0.74360	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.86;2.85;2.89	5.43	4.53	0.55603	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000002	T	0.31482	0.0798	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.942;0.999;1.0;1.0	T	0.03060	-1.1077	10	0.45353	T	0.12	.	14.3256	0.66518	0.0:0.9285:0.0:0.0715	.	673;646;642;642;642	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	619;642;642;642;646;673	ENSP00000392178:L619M;ENSP00000366453:L642M;ENSP00000345893:L642M;ENSP00000265384:L642M;ENSP00000442090:L646M;ENSP00000438262:L673M	ENSP00000265384:L642M	L	+	1	2	TJP2	71040907	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.856000	0.62932	1.433000	0.47394	0.491000	0.48974	CTG		0.507	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		63	297	1	0	8.77104e-35	1	1.04431e-34	63	297					A	71851087	C	A	71851087	3	1	79	1	0	0	0	0	1	0	0	0	15982	796	28	3	2131	3	TJP2	9	71851087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19762	71851087	69362344	10048	20365											
TJP2	9414	broad.mit.edu	37	chr9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatcagcaaggagaagCggtttgggtctctgaaggaa	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2644-2646)gCg>gTg		tight junction protein 2							109	104	106					9																	71861684		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861684C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	9.37:g.71861684C>T	ENSP00000366453:p.Ala882Val					TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V	p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2853	+			882					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2645C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG		0.418	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		79	359	0	0	0	1	0	79	359					T	71861684	C	T	71861684	3	4	79	1	0	0	0	0	1	0	0	0	15982	768	27	1	2872	1	TJP2	9	71861684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10597	71861684	69351747	10049	20366											
TJP2	9414	broad.mit.edu	37	chr9	71863050	71863050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacggacggtgaaggaggCgcctacactgacaatgagct	14	10	0	3	rs189082774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000453658.2_Silent_p.G907G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	930					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.G930G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622																																						ENST00000377245.4																			1	Substitution - coding silent(1)	p.G930G(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2788-2790)ggC>ggT		tight junction protein 2							56	52	53					9																	71863050		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71863050C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2790C>T	9.37:g.71863050C>T						TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000348208.4_Silent_p.G930G	p.G930G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			19	2998	+			930					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.2790C>T	CCDS6627.1																																																																																				0.622	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		65	184	0	0	0	1	0	65	184					T	71863050	C	T	71863050	2	4	79	1	0	0	0	0	0	0	0	1	15982	755	27	1		1	TJP2	9	71863050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1366	71863050	69350381	10050	20367											
TJP2	9414	broad.mit.edu	37	chr9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcagaacactccaagCgcggttactatggccagtct	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3526-3528)Cgc>Tgc		tight junction protein 2							92	88	89					9																	71869243		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71869243C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3526C>T	9.37:g.71869243C>T	ENSP00000366453:p.Arg1176Cys					TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C	p.R1176C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			23	3734	+			1176					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.3526C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548194	0.45383	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18810	2.58;2.43;2.57;2.19;2.46	5.56	5.56	0.83823	.	0.280739	0.31134	N	0.008197	T	0.43211	0.1237	L	0.57536	1.79	0.31688	N	0.642221	D;D;D;D	0.89917	0.999;0.995;1.0;0.999	P;P;D;P	0.77004	0.832;0.707;0.989;0.708	T	0.49331	-0.8951	10	0.66056	D	0.02	.	15.2602	0.73615	0.1488:0.8512:0.0:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	C	1006;1176;1029;1143;1207	ENSP00000392178:R1006C;ENSP00000366453:R1176C;ENSP00000345893:R1029C;ENSP00000442090:R1143C;ENSP00000438262:R1207C	ENSP00000345893:R1029C	R	+	1	0	TJP2	71059063	1.000000	0.71417	0.070000	0.20053	0.025000	0.11179	3.244000	0.51399	2.620000	0.88729	0.655000	0.94253	CGC		0.552	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		92	319	0	0	0	1	0	92	319					T	71869243	C	T	71869243	3	4	79	1	0	0	0	0	1	0	0	0	15982	768	27	1	3875	1	TJP2	9	71869243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6193	71869243	69344188	10051	20368											
APBA1	320	broad.mit.edu	37	chr9	72064647	72064647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcacggtggggaggatGgatccccagccagactccac	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	678	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2032-2034)tcC>tcT		amyloid beta (A4) precursor protein-binding, family A, member 1							101	88	92					9																	72064647		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72064647G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2034C>T	9.37:g.72064647G>A							p.S678S	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			10	2256	-			678			PDZ 1.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.2034C>T	CCDS6630.1																																																																																				0.478	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		83	348	0	0	0	1	0	83	348					A	72064647	G	A	72064647	2	1	79	1	0	0	0	0	0	0	0	1	756	1335	47	2		2	APBA1	9	72064647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195404	72064647	69148784	10052	20369											
APBA1	320	broad.mit.edu	37	chr9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaatgcctgtccgatggaCtgtgcaatcagctgagcctg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	602	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1804-1806)caG>caT		amyloid beta (A4) precursor protein-binding, family A, member 1							119	93	101					9																	72067200		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72067200C>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1806G>T	9.37:g.72067200C>A	ENSP00000265381:p.Gln602His						p.Q602H	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			9	2028	-			602			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1806G>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650194	0.67472	.	.	ENSG00000107282	ENST00000265381	T	0.21191	2.02	5.24	2.38	0.29361	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.42120	-0.9470	10	0.87932	D	0	-15.9216	11.3888	0.49802	0.0:0.7916:0.0:0.2084	.	602	Q02410	APBA1_HUMAN	H	602	ENSP00000265381:Q602H	ENSP00000265381:Q602H	Q	-	3	2	APBA1	71257020	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.631000	0.46502	0.732000	0.32470	-0.726000	0.03593	CAG		0.557	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		39	271	1	0	3.61848e-18	1	4.01023e-18	39	271					A	72067200	C	A	72067200	3	1	79	1	0	0	0	0	1	0	0	0	756	564	20	3	727	3	APBA1	9	72067200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2553	72067200	69146231	10053	20370											
APBA1	320	broad.mit.edu	37	chr9	72071981	72071981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatacctgtgtgtcggcGttcagcactttgattctctg	11	10	2	2	rs144906159	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72071981G>A	ENST00000265381.4	-	7	1812	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	530	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGTGTCGGCGTTCAGCACTT	0.483																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1588-1590)aaC>aaT		amyloid beta (A4) precursor protein-binding, family A, member 1		G		5,4401	9.9+/-24.2	0,5,2198	130	117	121		1590	-3.6	0.8	9	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APBA1	NM_001163.3		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		530/838	72071981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72071981G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1590C>T	9.37:g.72071981G>A						APBA1_ENST00000470082.1_5'UTR	p.N530N	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			7	1812	-			530			PID.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1590C>T	CCDS6630.1																																																																																				0.483	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		59	234	0	0	0	1	0	59	234					A	72071981	G	A	72071981	2	1	79	1	0	0	0	0	0	0	0	1	756	1136	40	1		1	APBA1	9	72071981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4781	72071981	69141450	10054	20371											
APBA1	320	broad.mit.edu	37	chr9	72131056	72131056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctggttttcacctcctcGatggcctccttgatgtcctt	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	357					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1069-1071)atC>atT		amyloid beta (A4) precursor protein-binding, family A, member 1							125	94	105					9																	72131056		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131056G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1071C>T	9.37:g.72131056G>A							p.I357I	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1293	-			357					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1071C>T	CCDS6630.1																																																																																				0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		84	446	0	0	0	1	0	84	446					A	72131056	G	A	72131056	2	1	79	1	0	0	0	0	0	0	0	1	756	1048	37	1		1	APBA1	9	72131056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59075	72131056	69082375	10055	20372											
PTAR1	375743	broad.mit.edu	37	chr9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgggaccaagcattatagTtgcttgggtatctccctgct	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000340434.4	-	5	584	c.581A>T	c.(580-582)aAc>aTc	p.N194I	PTAR1_ENST00000377200.5_Missense_Mutation_p.N115I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	194					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(343-345)aAc>aTc		protein prenyltransferase alpha subunit repeat containing 1							119	111	114					9																	72347116		1969	4150	6119	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72347116T>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.581A>T	9.37:g.72347116T>A	ENSP00000344299:p.Asn194Ile					PTAR1_ENST00000340434.4_Missense_Mutation_p.N194I	p.N115I			Q7Z6K3	PTAR1_HUMAN			3	346	-			194					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.344A>T	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997356	0.93227	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86704	0.1931	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	194	Q7Z6K3	PTAR1_HUMAN	I	115;194	ENSP00000366405:N115I;ENSP00000344299:N194I	ENSP00000344299:N194I	N	-	2	0	PTAR1	71536936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.308000	0.77769	0.533000	0.62120	AAC		0.493	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		45	153	0	0	0	1	0	45	153					A	72347116	T	A	72347116	3	1	79	1	0	0	0	0	1	0	0	0	12771	1725	60	5	643	5	PTAR1	9	72347116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216060	72347116	68866315	10056	20373											
MAMDC2	256691	broad.mit.edu	37	chr9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaggtcgagttcagtgctCcttaccccatggaggtaggt	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	296	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTCAGTGCTCCTTACCCCAT	0.572																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(886-888)Cct>Tct		MAM domain containing 2							79	55	63					9																	72741317		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72741317C>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.886C>T	9.37:g.72741317C>T	ENSP00000366387:p.Pro296Ser					MAMDC2-AS1_ENST00000591368.1_RNA	p.P296S	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			6	1503	+			296			MAM 2.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.886C>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497224	0.85069	.	.	ENSG00000165072	ENST00000377182	T	0.01918	4.56	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.047761	0.85682	D	0.000000	T	0.09730	0.0239	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.44513	-0.9323	10	0.08179	T	0.78	-10.1669	20.5792	0.99380	0.0:1.0:0.0:0.0	.	296	Q7Z304	MAMC2_HUMAN	S	296	ENSP00000366387:P296S	ENSP00000366387:P296S	P	+	1	0	MAMDC2	71931137	1.000000	0.71417	0.491000	0.27477	0.792000	0.44763	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	CCT		0.572	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		29	148	0	0	0	1	0	29	148					T	72741317	C	T	72741317	3	4	79	1	0	0	0	0	1	0	0	0	9244	855	30	2	908	2	MAMDC2	9	72741317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394201	72741317	68472114	10057	20374											
MAMDC2	256691	broad.mit.edu	37	chr9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagcactgattgaatacaGctgtgagaggcaacaccagg	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	631	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATTGAATACAGCTGTGAGAGG	0.428																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1891-1893)aGc>aTc		MAM domain containing 2							61	60	60					9																	72833493		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72833493G>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1892G>T	9.37:g.72833493G>T	ENSP00000366387:p.Ser631Ile					SMC5-AS1_ENST00000594708.1_RNA	p.S631I	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			12	2509	+			631			MAM 4.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1892G>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361880	0.61403	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.32	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.503086	0.25238	N	0.032109	T	0.06096	0.0158	M	0.69185	2.1	0.34456	D	0.701231	P	0.48294	0.908	P	0.49953	0.627	T	0.27157	-1.0082	10	0.36615	T	0.2	-16.4135	5.7393	0.18083	0.1351:0.3581:0.5068:0.0	.	631	Q7Z304	MAMC2_HUMAN	I	631	ENSP00000366387:S631I	ENSP00000366387:S631I	S	+	2	0	MAMDC2	72023313	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.943000	0.56621	1.387000	0.46486	0.580000	0.79431	AGC		0.428	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		39	164	1	0	3.38236e-24	1	3.86174e-24	39	164					T	72833493	G	T	72833493	3	4	79	1	0	0	0	0	1	0	0	0	9244	971	34	3	1938	3	MAMDC2	9	72833493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92176	72833493	68379938	10058	20375											
SMC5	23137	broad.mit.edu	37	chr9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaggtgaaagaagtgTttctaccatgttatacttga	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	998	Ala/Asp-rich (DA-box).				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGAAGTGTTTCTACCATG	0.353																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2992-2994)gTt>gGt		structural maintenance of chromosomes 5							111	111	111					9																	72965133		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72965133T>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2993T>G	9.37:g.72965133T>G	ENSP00000354957:p.Val998Gly					SMC5_ENST00000471372.1_3'UTR	p.V998G	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			23	3051	+			998			Ala/Asp-rich (DA-box).		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2993T>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633552	0.87660	.	.	ENSG00000198887	ENST00000361138	T	0.69926	-0.44	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86892	0.2049	10	0.72032	D	0.01	-20.4933	16.635	0.85050	0.0:0.0:0.0:1.0	.	998	Q8IY18	SMC5_HUMAN	G	998	ENSP00000354957:V998G	ENSP00000354957:V998G	V	+	2	0	SMC5	72154953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.330000	0.79161	0.477000	0.44152	GTT		0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		17	345	0	0	0	1	0	17	345					G	72965133	T	G	72965133	3	3	79	1	0	0	0	0	1	0	0	0	14836	1725	60	4	3083	4	SMC5	9	72965133	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	131640	72965133	68248298	10059	20376											
TRPM3	80036	broad.mit.edu	37	chr9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatagcagagacatagaTgtctatacacgatgatggtc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.3	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1427					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGACATAGATGTCTATACAC	0.498																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4204-4206)Atc>Gtc		transient receptor potential cation channel, subfamily M, member 3							108	101	104					9																	73151789		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151789T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4204A>G	9.37:g.73151789T>C	ENSP00000366314:p.Ile1402Val					TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V	p.I1402V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4447	-			1427					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4204A>G	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.590243|3.590243	0.66105|0.66105	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61627	.|0.21;0.1;0.1;0.09;0.2;0.09;0.09;0.1;0.1;0.19	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103719	.|0.64402	.|D	.|0.000004	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.29908|0.29908	0.895|0.895	0.46356|0.46356	D|D	0.999|0.999	.|P;D;P;P;P;P;P	.|0.62365	.|0.876;0.991;0.606;0.803;0.876;0.541;0.803	.|D;D;B;P;D;B;P	.|0.72625	.|0.927;0.978;0.136;0.847;0.927;0.265;0.847	T|T	0.58662|0.58662	-0.7597|-0.7597	5|10	.|0.16896	.|T	.|0.51	-26.045|-26.045	16.5446|16.5446	0.84426|0.84426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1402;1392;1406;1264;1261;1374;1261	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	R|V	1250|1402;1274;1264;1261;1406;1261;1261;1274;1264;1429	.|ENSP00000366314:I1402V;ENSP00000366310:I1274V;ENSP00000354066:I1264V;ENSP00000366309:I1261V;ENSP00000350140:I1406V;ENSP00000386127:I1261V;ENSP00000379581:I1261V;ENSP00000379587:I1274V;ENSP00000350791:I1264V;ENSP00000389542:I1429V	.|ENSP00000350140:I1406V	H|I	-|-	2|1	0|0	TRPM3|TRPM3	72341609|72341609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.499000|7.499000	0.81566|0.81566	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		92	336	0	0	0	1	0	92	336					C	73151789	T	C	73151789	3	2	79	1	0	0	0	0	1	0	0	0	16640	1464	51	4	923	4	TRPM3	9	73151789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186656	73151789	68061642	10060	20377											
TRPM3	80036	broad.mit.edu	37	chr9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccctggctctgacatcaGaatctataaggcaggaagga	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377111.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	947					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGACATCAGAATCTATAAG	0.488																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2764-2766)Ctg>Atg		transient receptor potential cation channel, subfamily M, member 3							100	91	94					9																	73213583		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213583G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2764C>A	9.37:g.73213583G>T	ENSP00000366315:p.Leu922Met					TRPM3_ENST00000377111.2_Missense_Mutation_p.L922M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M	p.L922M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			20	3007	-			947					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2764C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620421|2.620421	0.46736|0.46736	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.17|5.17	2.11|2.11	0.27256|0.27256	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.39279|0.39279	0.1072|0.1072	N|N	0.17764|0.17764	0.52|0.52	0.40532|0.40532	D|D	0.980949|0.980949	D;P;D;P;P;P;D;B|.	0.89917|.	0.997;0.896;0.999;0.937;0.605;0.817;1.0;0.02|.	D;P;D;P;P;P;D;B|.	0.91635|.	0.982;0.789;0.999;0.81;0.893;0.802;0.99;0.195|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.54805|.	T|.	0.06|.	-12.4354|-12.4354	9.5748|9.5748	0.39450|0.39450	0.4221:0.0:0.5779:0.0|0.4221:0.0:0.5779:0.0	.|.	922;922;912;926;784;781;894;769|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	922;922;794;784;781;926;781;769;794;784;949|770	ENSP00000366315:L922M;ENSP00000366314:L922M;ENSP00000366310:L794M;ENSP00000354066:L784M;ENSP00000366309:L781M;ENSP00000350140:L926M;ENSP00000386127:L781M;ENSP00000379581:L769M;ENSP00000379587:L794M;ENSP00000350791:L784M;ENSP00000389542:L949M|.	ENSP00000350140:L926M|.	L|S	-|-	1|2	2|0	TRPM3|TRPM3	72403403|72403403	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.047000|2.047000	0.41269|0.41269	0.595000|0.595000	0.29777|0.29777	-0.213000|-0.213000	0.12676|0.12676	CTG|TCT		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		64	374	1	0	9.40535e-28	1	1.0908e-27	64	374					T	73213583	G	T	73213583	3	4	79	1	0	0	0	0	1	0	0	0	16640	933	33	3	2383	3	TRPM3	9	73213583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61794	73213583	67999848	10061	20378											
TRPM3	80036	broad.mit.edu	37	chr9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgttcttgaactccaaGctgagaattgaaggaggaag	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377111.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	812					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAACTCCAAGCTGAGAATTG	0.398																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2359-2361)agC>agA		transient receptor potential cation channel, subfamily M, member 3							101	92	95					9																	73230953		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73230953G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2361C>A	9.37:g.73230953G>T	ENSP00000366315:p.Ser787Arg					TRPM3_ENST00000377111.2_Missense_Mutation_p.S787R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R	p.S787R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			17	2604	-			812					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2361C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569346|1.569346	0.28003|0.28003	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.087739	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.08118|0.08118	0|0	0.42438|0.42438	D|D	0.992706|0.992706	.|B;B;P;B;B;B;B;P	.|0.40266	.|0.008;0.001;0.565;0.101;0.101;0.404;0.003;0.71	.|B;B;P;B;B;B;B;B	.|0.50490	.|0.026;0.005;0.642;0.122;0.078;0.109;0.015;0.193	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.19147	.|T	.|0.46	-23.5504|-23.5504	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|787;787;777;791;649;646;759;634	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	I|R	636|787;787;659;649;646;791;646;634;659;649;814	.|ENSP00000366315:S787R;ENSP00000366314:S787R;ENSP00000366310:S659R;ENSP00000354066:S649R;ENSP00000366309:S646R;ENSP00000350140:S791R;ENSP00000386127:S646R;ENSP00000379581:S634R;ENSP00000379587:S659R;ENSP00000350791:S649R;ENSP00000389542:S814R	.|ENSP00000350140:S791R	L|S	-|-	1|3	0|2	TRPM3|TRPM3	72420773|72420773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.250000|2.250000	0.43178|0.43178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|AGC		0.398	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		34	179	1	0	6.50621e-10	1	6.87419e-10	34	179					T	73230953	G	T	73230953	3	4	79	1	0	0	0	0	1	0	0	0	16640	962	34	3	2798	3	TRPM3	9	73230953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17370	73230953	67982478	10062	20379											
TRPM3	80036	broad.mit.edu	37	chr9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggcctgagttcttgcGcatgcggagccggcccatcc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	ENST00000377111.2	-	16	2545	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000377110.3_Missense_Mutation_p.R768C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	793					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGTTCTTGCGCATGCGGAGC	0.622																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2302-2304)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 3							52	48	49					9																	73233803		2203	4299	6502	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73233803G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2302C>T	9.37:g.73233803G>A	ENSP00000366315:p.Arg768Cys					TRPM3_ENST00000377111.2_Missense_Mutation_p.R768C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C	p.R768C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			16	2545	-			793					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2302C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222709|4.222709	0.79464|0.79464	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.65|5.65	3.67|3.67	0.42095|0.42095	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84433|0.84433	0.5471|0.5471	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.98;1.0;1.0;1.0	.|D;D;D;D;P;D;D;D	.|0.79784	.|0.988;0.969;0.983;0.978;0.53;0.978;0.993;0.964	D|D	0.87201|0.87201	0.2241|0.2241	5|10	.|0.87932	.|D	.|0	-18.3508|-18.3508	16.3867|16.3867	0.83507|0.83507	0.0:0.0:0.7511:0.2489|0.0:0.0:0.7511:0.2489	.|.	.|768;768;758;772;630;627;740;615	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	V|C	616|768;768;640;630;627;772;627;615;640;630;795	.|ENSP00000366315:R768C;ENSP00000366314:R768C;ENSP00000366310:R640C;ENSP00000354066:R630C;ENSP00000366309:R627C;ENSP00000350140:R772C;ENSP00000386127:R627C;ENSP00000379581:R615C;ENSP00000379587:R640C;ENSP00000350791:R630C;ENSP00000389542:R795C	.|ENSP00000350140:R772C	A|R	-|-	2|1	0|0	TRPM3|TRPM3	72423623|72423623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.986000|2.986000	0.49370|0.49370	1.600000|1.600000	0.50102|0.50102	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		58	251	0	0	0	1	0	58	251					A	73233803	G	A	73233803	3	1	79	1	0	0	0	0	1	0	0	0	16640	1087	38	1	2861	1	TRPM3	9	73233803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	73233803	67979628	10063	20380											
TRPM3	80036	broad.mit.edu	37	chr9	73426137	73426137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaataaaacaagcgggagtCaagagagaaaaacggcaggc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73426137C>T	ENST00000396292.4	-	5	537	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TRPM3_ENST00000361823.5_Intron|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.D180N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	333					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGCGGGAGTCAAGAGAGAAA	0.353																																						ENST00000377106.1																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(538-540)Gac>Aac		transient receptor potential cation channel, subfamily M, member 3							60	63	62					9																	73426137		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73426137C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000396292.4:c.538G>A	9.37:g.73426137C>T	ENSP00000379587:p.Asp180Asn					TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.D180N|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N	p.D180N	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN			7	892	-			333					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000396292.4	37	c.538G>A	CCDS6635.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879218	0.33162	.	.	ENSG00000083067	ENST00000377106;ENST00000360823;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000396283	T;T;T;T;T;T	0.66460	0.56;0.55;0.56;0.55;0.6;-0.21	4.79	4.79	0.61399	.	.	.	.	.	T	0.48995	0.1531	N	0.08118	0	0.80722	D	1	B	0.24258	0.1	B	0.28139	0.086	T	0.50311	-0.8843	9	0.56958	D	0.05	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	180	A2A3F4	.	N	180;180;180;180;335;180	ENSP00000366310:D180N;ENSP00000354066:D180N;ENSP00000379587:D180N;ENSP00000350791:D180N;ENSP00000389542:D335N;ENSP00000379579:D180N	ENSP00000350791:D180N	D	-	1	0	TRPM3	72615957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.987000	0.49378	2.941000	0.99782	0.655000	0.94253	GAC		0.353	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	NM_206945		10	91	0	0	0	1	0	10	91					T	73426137	C	T	73426137	3	4	79	1	0	0	0	0	1	0	0	0	16640	826	29	2	4325	2	TRPM3	9	73426137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192334	73426137	67787294	10064	20381											
TMEM2	23670	broad.mit.edu	37	chr9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttgggtcagcagcactaGagttggttgttttgacacct	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	740					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCAGCACTAGAGTTGGTTGT	0.378																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2218-2220)tCt>tAt		transmembrane protein 2							149	132	138					9																	74337391		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74337391G>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2219C>A	9.37:g.74337391G>T	ENSP00000366243:p.Ser740Tyr					TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	p.S740Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	12	2758	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	740					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2219C>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691561	0.68271	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.55413	0.52;0.52	5.38	5.38	0.77491	Pectin lyase fold/virulence factor (1);	0.095821	0.64402	D	0.000001	T	0.43500	0.1250	N	0.14661	0.345	0.80722	D	1	B;B	0.26744	0.158;0.131	B;B	0.31946	0.089;0.138	T	0.44097	-0.9350	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	740;677	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	740;677	ENSP00000366243:S740Y;ENSP00000366266:S677Y	ENSP00000366243:S740Y	S	-	2	0	TMEM2	73527211	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.248000	0.95456	2.687000	0.91594	0.557000	0.71058	TCT		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		61	268	1	0	3.30712e-30	1	3.87637e-30	61	268					T	74337391	G	T	74337391	3	4	79	1	0	0	0	0	1	0	0	0	16173	942	33	3	1984	3	TMEM2	9	74337391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911254	74337391	66876040	10065	20382											
FAM108B1	51104	broad.mit.edu	37	chr9	74481776	74481776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccataaagttccacatcaTtgtgacctgctccttcaacc	5	14	2	1	rs554947530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74481776T>G	ENST00000333421.6	-	4	905	c.794A>C	c.(793-795)aAt>aCt	p.N265T	ABHD17B_ENST00000377041.2_Missense_Mutation_p.N265T	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	265						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TTCCACATCATTGTGACCTGC	0.418																																						ENST00000333421.6																			0											c.(793-795)aAt>aCt		abhydrolase domain containing 17B							84	77	79					9																	74481776		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74481776T>G	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.794A>C	9.37:g.74481776T>G	ENSP00000330222:p.Asn265Thr					ABHD17B_ENST00000377041.2_Missense_Mutation_p.N265T	p.N265T	NM_001025780.1	NP_001020951.1					4	905	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.794A>C	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.727600	0.69074	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.22945	1.93;1.93	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.953	T	0.62067	-0.6932	10	0.49607	T	0.09	-0.0092	16.07	0.80919	0.0:0.0:0.0:1.0	.	265;265	Q5VST6;Q5VST6-2	F108B_HUMAN;.	T	265	ENSP00000366240:N265T;ENSP00000330222:N265T	ENSP00000330222:N265T	N	-	2	0	FAM108B1	73671596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.920000	0.87521	2.254000	0.74563	0.533000	0.62120	AAT		0.418	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		74	335	0	0	0	1	0	74	335					G	74481776	T	G	74481776	3	3	79	1	0	0	0	0	1	0	0	0	5413	1493	52	4	107	4	FAM108B1	9	74481776	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	144385	74481776	66731655	10066	20383											
FAM108B1	51104	broad.mit.edu	37	chr9	74489764	74489764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtacaaacatacaagcaattCtgttgcctttactggttcta	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74489764C>T	ENST00000333421.6	-	2	344	c.233G>A	c.(232-234)aGa>aAa	p.R78K	ABHD17B_ENST00000377041.2_Missense_Mutation_p.R78K	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	78						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACAAGCAATTCTGTTGCCTTT	0.398																																						ENST00000333421.6																			0											c.(232-234)aGa>aAa		abhydrolase domain containing 17B							202	178	187					9																	74489764		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74489764C>T	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.233G>A	9.37:g.74489764C>T	ENSP00000330222:p.Arg78Lys					ABHD17B_ENST00000377041.2_Missense_Mutation_p.R78K	p.R78K	NM_001025780.1	NP_001020951.1					2	344	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.233G>A	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036725	0.54896	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.43688	0.94;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.52905	1.665	0.50813	D	0.999892	B;B	0.13145	0.004;0.007	B;B	0.14578	0.008;0.011	T	0.20907	-1.0261	10	0.21540	T	0.41	-9.0591	20.8794	0.99867	0.0:1.0:0.0:0.0	.	78;78	Q5VST6;Q5VST6-2	F108B_HUMAN;.	K	78	ENSP00000366240:R78K;ENSP00000330222:R78K	ENSP00000330222:R78K	R	-	2	0	FAM108B1	73679584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.941000	0.99782	0.655000	0.94253	AGA		0.398	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		132	516	0	0	0	1	0	132	516					T	74489764	C	T	74489764	3	4	79	1	0	0	0	0	1	0	0	0	5413	913	32	2	676	2	FAM108B1	9	74489764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7988	74489764	66723667	10067	20384											
ZFAND5	7763	broad.mit.edu	37	chr9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgagaaactgatggaCtgggctgagtgacaactgaa	15	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	128					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(382-384)aGt>aTt		zinc finger, AN1-type domain 5							102	94	97					9																	74971957		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74971957C>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.383G>T	9.37:g.74971957C>A	ENSP00000237937:p.Ser128Ile					ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I	p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			5	940	-			128					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.383G>T	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763741	0.49574	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.274244	0.46145	D	0.000312	T	0.51686	0.1689	N	0.20986	0.625	0.41066	D	0.985415	B	0.06786	0.001	B	0.06405	0.002	T	0.41770	-0.9490	9	0.46703	T	0.11	-10.2096	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	128	O76080	ZFAN5_HUMAN	I	128;128;128;128;180	.	ENSP00000237937:S128I	S	-	2	0	ZFAND5	74161777	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.034000	0.64152	2.941000	0.99782	0.655000	0.94253	AGT		0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			48	185	1	0	1.63038e-21	1	1.83746e-21	48	185					A	74971957	C	A	74971957	3	1	79	1	0	0	0	0	1	0	0	0	17683	565	20	3	266	3	ZFAND5	9	74971957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	482193	74971957	66241474	10068	20385											
ZFAND5	7763	broad.mit.edu	37	chr9	74975027	74975027	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgttcaatcttaccTtgatttttcagatgtgctgc	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.262A>G	c.(262-264)Aga>Gga	p.R88G	ZFAND5_ENST00000376960.4_Splice_Site_p.R88G|ZFAND5_ENST00000343431.2_Splice_Site_p.R88G|ZFAND5_ENST00000376962.5_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	88					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CAATCTTACCTTGATTTTTCA	0.393																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.e3+1		zinc finger, AN1-type domain 5							80	79	79					9																	74975027		2203	4299	6502	SO:0001630	splice_region_variant	0						DNA binding|zinc ion binding	g.chr9:74975027T>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.263+1A>G	9.37:g.74975027T>C						ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Splice_Site_p.R88_splice|ZFAND5_ENST00000376960.4_Splice_Site_p.R88_splice|ZFAND5_ENST00000376962.5_Splice_Site_p.R88_splice	p.R88_splice	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			3	819	-			88					A8K484	Splice_Site	SNP	ENST00000237937.3	37	c.263_splice	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169819	0.38315	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.424530	0.28908	N	0.013748	T	0.57636	0.2067	L	0.52573	1.65	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.53085	-0.8488	9	0.22706	T	0.39	-12.4801	16.5885	0.84745	0.0:0.0:0.0:1.0	.	88	O76080	ZFAN5_HUMAN	G	88;88;88;88;140	.	ENSP00000237937:R88G	R	-	1	2	ZFAND5	74164847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.784000	0.75084	2.317000	0.78254	0.460000	0.39030	AGA		0.393	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1		Missense_Mutation	7	246	0	0	0	1	0	7	246					C	74975027	T	C	74975027	5	2	79	1	0	0	0	0	0	0	1	0	17683	1623	56	4	395	4	ZFAND5	9	74975027	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3070	74975027	66238404	10069	20386											
ANXA1	301	broad.mit.edu	37	chr9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcccttacaggtcaccTtgaggaggttgttttagctc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1	104					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACAGGTCACCTTGAGGAGGTT	0.413																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(310-312)cTt>cCt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						118	121	120					9																	75775219		2203	4300	6503	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775219T>C	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.311T>C	9.37:g.75775219T>C	ENSP00000366109:p.Leu104Pro					ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P	p.L104P			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	4	1193	+		all_epithelial(88;2.54e-11)	104						Missense_Mutation	SNP	ENST00000376911.1	37	c.311T>C	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284754	0.80803	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.182863	0.48767	D	0.000169	T	0.32010	0.0815	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.43829	-0.9367	10	0.87932	D	0	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	104	P04083	ANXA1_HUMAN	P	104;115;104;104	ENSP00000257497:L104P;ENSP00000412489:L115P;ENSP00000414013:L104P;ENSP00000366109:L104P	ENSP00000257497:L104P	L	+	2	0	ANXA1	74965039	0.838000	0.29461	0.927000	0.36925	0.644000	0.38419	5.484000	0.66844	2.260000	0.74910	0.528000	0.53228	CTT		0.413	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		81	382	0	0	0	1	0	81	382					C	75775219	T	C	75775219	3	2	79	1	0	0	0	0	1	0	0	0	714	1609	56	4	325	4	ANXA1	9	75775219	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	800192	75775219	65438212	10070	20387											
RORB	6096	broad.mit.edu	37	chr9	77245232	77245232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccatgcaaaatttgtggCgataagtcctctgggatcca	9	9	1	0	rs375934653		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000396204.2	+	2	75	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RORB_ENST00000376896.3_Silent_p.G14G			Q92753	RORB_HUMAN	RAR-related orphan receptor B	25					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AAATTTGTGGCGATAAGTCCT	0.428																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(40-42)ggC>ggT		RAR-related orphan receptor B							161	131	141					9																	77245232		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77245232C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.75C>T	9.37:g.77245232C>T						RORB_ENST00000396204.2_Silent_p.G25G	p.G14G	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			2	654	+			25					Q8WX73	Silent	SNP	ENST00000396204.2	37	c.42C>T																																																																																					0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding				47	244	0	0	0	1	0	47	244					T	77245232	C	T	77245232	2	4	79	1	0	0	0	0	0	0	0	1	13579	755	27	1		1	RORB	9	77245232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1470013	77245232	63968199	10071	20388											
TRPM6	140803	broad.mit.edu	37	chr9	77354718	77354718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaagaaaggacttgAcaatgaaaacttgtcccggc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354718A>G	ENST00000360774.1	-	34	5645	c.5408T>C	c.(5407-5409)gTc>gCc	p.V1803A	TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1803	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTGACAATGAAAAC	0.498																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5419-5421)gTc>gCc		transient receptor potential cation channel, subfamily M, member 6							131	126	128					9																	77354718		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354718A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5408T>C	9.37:g.77354718A>G	ENSP00000354006:p.Val1803Ala					TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1803A	p.V1807A			Q9BX84	TRPM6_HUMAN			33	5657	-			1803			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5420T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584628	0.86748	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.96	5.96	0.96718	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.053822	0.64402	D	0.000001	T	0.14056	0.0340	N	0.17082	0.46	0.50039	D	0.999841	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.996;0.997	D;D;D;D;P;D	0.77557	0.971;0.986;0.99;0.965;0.885;0.941	T	0.09357	-1.0678	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	350;636;754;1803;1798;1798	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	A	1803;1807;758;640;1798;1798;349;1807	ENSP00000354006:V1803A;ENSP00000407341:V1807A;ENSP00000366068:V758A;ENSP00000366067:V640A;ENSP00000396672:V1798A;ENSP00000354962:V1798A;ENSP00000366060:V1807A	ENSP00000354006:V1803A	V	-	2	0	TRPM6	76544538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.288000	0.78691	2.285000	0.76669	0.533000	0.62120	GTC		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		27	694	0	0	0	1	0	27	694					G	77354718	A	G	77354718	3	3	79	1	0	0	0	0	1	0	0	0	16643	275	10	4	684	4	TRPM6	9	77354718	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109486	77354718	63858713	10072	20389											
TRPM6	140803	broad.mit.edu	37	chr9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcattgccgctctcccacgCtgagaccaagaggacatgct	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000360774.1	-	34	5517	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1760	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5290-5292)caG>caT		transient receptor potential cation channel, subfamily M, member 6							92	79	84					9																	77354846		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354846C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5280G>T	9.37:g.77354846C>A	ENSP00000354006:p.Gln1760His					TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1760H	p.Q1764H			Q9BX84	TRPM6_HUMAN			33	5529	-			1760			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5292G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209622	0.79240	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.96	5.06	0.68205	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.440036	0.27807	N	0.017768	T	0.15825	0.0381	L	0.57536	1.79	0.44985	D	0.998002	B;B;P;D;D;D	0.64830	0.415;0.415;0.886;0.99;0.971;0.994	B;B;B;P;P;P	0.54140	0.106;0.167;0.408;0.558;0.545;0.743	T	0.00045	-1.2216	10	0.56958	D	0.05	.	15.4711	0.75441	0.0:0.9331:0.0:0.0669	.	307;593;711;1760;1755;1755	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1760;1764;715;597;1755;1755;306;1764	ENSP00000354006:Q1760H;ENSP00000407341:Q1764H;ENSP00000366068:Q715H;ENSP00000366067:Q597H;ENSP00000396672:Q1755H;ENSP00000354962:Q1755H;ENSP00000366060:Q1764H	ENSP00000354006:Q1760H	Q	-	3	2	TRPM6	76544666	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.496000	0.35638	2.832000	0.97577	0.655000	0.94253	CAG		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		61	290	1	0	4.88506e-25	1	5.59823e-25	61	290					A	77354846	C	A	77354846	3	1	79	1	0	0	0	0	1	0	0	0	16643	796	28	3	812	3	TRPM6	9	77354846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	77354846	63858585	10073	20390											
TRPM6	140803	broad.mit.edu	37	chr9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaccttctgaaaatgcCcagtttacatatccacctcc	3	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000360774.1	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4363-4365)tgG>tgA		transient receptor potential cation channel, subfamily M, member 6							110	110	110					9																	77377222		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377222C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4365G>A	9.37:g.77377222C>T	ENSP00000354006:p.Trp1455*					TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W1455*	p.W1455*			Q9BX84	TRPM6_HUMAN			26	4602	-			1455					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.4365G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	43	9.921600	0.99295	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.81	5.81	0.92471	.	1.045860	0.07371	N	0.885724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1455;1450;1450;1455	.	ENSP00000354006:W1455X	W	-	3	0	TRPM6	76567042	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	TGG		0.473	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		76	426	0	0	0	1	0	76	426					T	77377222	C	T	77377222	4	4	79	1	0	0	0	0	0	1	0	0	16643	624	22	2	1759	2	TRPM6	9	77377222	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22376	77377222	63836209	10074	20391											
TRPM6	140803	broad.mit.edu	37	chr9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggctttaaccgtggcctCctctccatgctgccagaaga	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000360774.1	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	633					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1897-1899)Gag>Aag		transient receptor potential cation channel, subfamily M, member 6							144	117	126					9																	77416926		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416926C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1897G>A	9.37:g.77416926C>T	ENSP00000354006:p.Glu633Lys					TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E633K	p.E633K			Q9BX84	TRPM6_HUMAN			16	2134	-			633					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1897G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456860	0.96223	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.28	5.28	0.74379	.	0.046451	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90977	3.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75020	0.985;0.983;0.982	D	0.91646	0.5331	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	296;633;628	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	K	633;633;628;628;633;296;296	ENSP00000354006:E633K;ENSP00000407341:E633K;ENSP00000396672:E628K;ENSP00000354962:E628K;ENSP00000366060:E633K	ENSP00000309693:E296K	E	-	1	0	TRPM6	76606746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.963000	0.70372	2.462000	0.83206	0.585000	0.79938	GAG		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		49	247	0	0	0	1	0	49	247					T	77416926	C	T	77416926	3	4	79	1	0	0	0	0	1	0	0	0	16643	864	30	2	4267	2	TRPM6	9	77416926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39704	77416926	63796505	10075	20392											
TRPM6	140803	broad.mit.edu	37	chr9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgtagagggctctgAaatgttttctagtgtagttg	14	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000360774.1	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	534					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1600-1602)tTc>tGc		transient receptor potential cation channel, subfamily M, member 6							261	248	252					9																	77422987		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77422987A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1601T>G	9.37:g.77422987A>C	ENSP00000354006:p.Phe534Cys					TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000360774.1_Missense_Mutation_p.F534C	p.F534C			Q9BX84	TRPM6_HUMAN			14	1838	-			534					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1601T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483220	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.04;-0.87;-0.87;-0.87	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	534;534;529	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	534;534;534;529;529;534;197;197	ENSP00000354006:F534C;ENSP00000407341:F534C;ENSP00000366068:F534C;ENSP00000396672:F529C;ENSP00000354962:F529C;ENSP00000366060:F534C	ENSP00000309693:F197C	F	-	2	0	TRPM6	76612807	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.202000	0.70862	0.482000	0.46254	TTC		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	426	0	0	0	1	0	44	426					C	77422987	A	C	77422987	3	2	79	1	0	0	0	0	1	0	0	0	16643	246	9	4	4571	4	TRPM6	9	77422987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6061	77422987	63790444	10076	20393											
TRPM6	140803	broad.mit.edu	37	chr9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggaggttcactccatattCtattaagagcttcacaaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000360774.1	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1381-1383)Gaa>Taa		transient receptor potential cation channel, subfamily M, member 6							114	104	107					9																	77427277		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77427277C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1381G>T	9.37:g.77427277C>A	ENSP00000354006:p.Glu461*					TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E461*	p.E461*			Q9BX84	TRPM6_HUMAN			12	1618	-			461					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.1381G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	40	8.385365	0.98789	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.7	5.7	0.88788	.	0.044112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	461;461;461;461;456;456;461;124;124	.	ENSP00000309693:E124X	E	-	1	0	TRPM6	76617097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		80	337	1	0	3.56499e-28	1	4.14352e-28	80	337					A	77427277	C	A	77427277	4	1	79	1	0	0	0	0	0	1	0	0	16643	922	32	3	4799	3	TRPM6	9	77427277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4290	77427277	63786154	10077	20394											
TRPM6	140803	broad.mit.edu	37	chr9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccattgccagatttaattgCtctgacgctgataaatttgt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000360774.1	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	410					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1228-1230)gaG>gaT		transient receptor potential cation channel, subfamily M, member 6							114	112	113					9																	77431663		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431663C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1230G>T	9.37:g.77431663C>A	ENSP00000354006:p.Glu410Asp					TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E410D	p.E410D			Q9BX84	TRPM6_HUMAN			11	1467	-			410					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1230G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278271	0.05679	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.68	-1.39	0.08997	.	0.205802	0.52532	D	0.000073	T	0.24890	0.0604	N	0.02213	-0.635	0.35799	D	0.822992	B;B;B;B	0.12013	0.001;0.003;0.005;0.001	B;B;B;B	0.15484	0.002;0.002;0.013;0.008	T	0.30621	-0.9972	10	0.02654	T	1	.	0.3834	0.00398	0.1901:0.2448:0.2043:0.3608	.	410;410;410;405	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	D	410;410;410;410;405;405;410;73;73	ENSP00000354006:E410D;ENSP00000407341:E410D;ENSP00000366068:E410D;ENSP00000366067:E410D;ENSP00000396672:E405D;ENSP00000354962:E405D;ENSP00000366060:E410D	ENSP00000309693:E73D	E	-	3	2	TRPM6	76621483	0.992000	0.36948	1.000000	0.80357	0.813000	0.45954	0.289000	0.18957	0.127000	0.18452	-0.378000	0.06908	GAG		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		68	338	1	0	9.07738e-34	1	1.07712e-33	68	338					A	77431663	C	A	77431663	3	1	79	1	0	0	0	0	1	0	0	0	16643	796	28	3	4954	3	TRPM6	9	77431663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4386	77431663	63781768	10078	20395											
C9orf41	138199	broad.mit.edu	37	chr9	77611376	77611376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttacctagatttatccaAattccacctggcttgagtat	5	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77611376A>C	ENST00000376834.3	-	6	1163	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	337										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GATTTATCCAAATTCCACCTG	0.308																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(1009-1011)atT>atG		chromosome 9 open reading frame 41							77	79	78					9																	77611376		2203	4291	6494	SO:0001583	missense	138199							g.chr9:77611376A>C	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1011T>G	9.37:g.77611376A>C	ENSP00000366030:p.Ile337Met					C9orf41_ENST00000376837.3_3'UTR	p.I337M	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			6	1163	-			337					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.1011T>G	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037682	0.54896	.	.	ENSG00000156017	ENST00000376834	T	0.03889	3.77	5.67	3.19	0.36642	N2227-like (1);	0.234938	0.42964	D	0.000638	T	0.12944	0.0314	M	0.62154	1.92	0.80722	D	1	D	0.59357	0.985	D	0.63877	0.919	T	0.01287	-1.1395	10	0.52906	T	0.07	-13.637	5.5966	0.17331	0.5278:0.0:0.0759:0.3963	.	337	Q8N4J0	CI041_HUMAN	M	337	ENSP00000366030:I337M	ENSP00000366030:I337M	I	-	3	3	C9orf41	76801196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.274000	0.33132	0.367000	0.24454	0.528000	0.53228	ATT		0.308	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		9	369	0	0	0	1	0	9	369					C	77611376	A	C	77611376	3	2	79	1	0	0	0	0	1	0	0	0	2489	10	1	4	230	4	C9orf41	9	77611376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	179713	77611376	63602055	10079	20396											
C9orf41	138199	broad.mit.edu	37	chr9	77613623	77613623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgggtcgaatctgatcAgctgatctccggttattgct	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(799-801)gcT>gcC		chromosome 9 open reading frame 41							69	75	73					9																	77613623		2203	4299	6502	SO:0001819	synonymous_variant	138199							g.chr9:77613623A>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.801T>C	9.37:g.77613623A>G						C9orf41_ENST00000376837.3_3'UTR	p.A267A	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			5	953	-			267					Q7Z383|Q8N7C5	Silent	SNP	ENST00000376834.3	37	c.801T>C	CCDS6649.1																																																																																				0.363	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		41	248	0	0	0	1	0	41	248					G	77613623	A	G	77613623	2	3	79	1	0	0	0	0	0	0	0	1	2489	175	7	4		4	C9orf41	9	77613623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2247	77613623	63599808	10080	20397											
C9orf95	54981	broad.mit.edu	37	chr9	77684710	77684710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggaaatagcttctatTccatatagtgtcaaggggcc	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77684710T>C	ENST00000361092.4	-	6	573	c.337A>G	c.(337-339)Aat>Gat	p.N113D	NMRK1_ENST00000376811.1_Missense_Mutation_p.N117D|NMRK1_ENST00000376808.4_Intron|NMRK1_ENST00000482537.1_5'Flank	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	113					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TAGCTTCTATTCCATATAGTG	0.373																																						ENST00000376811.1																			0											c.(349-351)Aat>Gat		nicotinamide riboside kinase 1							94	90	92					9																	77684710		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77684710T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.337A>G	9.37:g.77684710T>C	ENSP00000354387:p.Asn113Asp					NMRK1_ENST00000376808.4_Intron|NMRK1_ENST00000361092.4_Missense_Mutation_p.N113D	p.N117D			Q9NWW6	NRK1_HUMAN			7	811	-			113					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.349A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819526	0.16607	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092	T;T	0.27104	1.69;1.69	5.86	5.86	0.93980	.	0.055044	0.64402	D	0.000001	T	0.12475	0.0303	N	0.13140	0.3	0.80722	D	1	P;B	0.35011	0.48;0.002	B;B	0.33454	0.164;0.003	T	0.09100	-1.0690	10	0.02654	T	1	-10.0443	11.0482	0.47872	0.0:0.0727:0.0:0.9273	.	117;113	Q5W125;Q9NWW6	.;NRK1_HUMAN	D	117;117;113	ENSP00000366007:N117D;ENSP00000354387:N113D	ENSP00000354387:N113D	N	-	1	0	C9orf95	76874530	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	1.940000	0.40223	2.241000	0.73720	0.482000	0.46254	AAT		0.373	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	309	0	0	0	1	0	6	309					C	77684710	T	C	77684710	3	2	79	1	0	0	0	0	1	0	0	0	2514	1783	62	4	278	4	C9orf95	9	77684710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	71087	77684710	63528721	10081	20398											
C9orf95	54981	broad.mit.edu	37	chr9	77692434	77692434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatcctgagatatgacaCtgcaatttgggaggtgtttc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77692434C>T	ENST00000361092.4	-	3	328	c.92G>A	c.(91-93)aGt>aAt	p.S31N	NMRK1_ENST00000376811.1_Missense_Mutation_p.S35N|NMRK1_ENST00000376808.4_Missense_Mutation_p.S31N	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	31					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AGATATGACACTGCAATTTGG	0.318																																						ENST00000376811.1																			0											c.(103-105)aGt>aAt		nicotinamide riboside kinase 1							131	121	124					9																	77692434		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692434C>T	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.92G>A	9.37:g.77692434C>T	ENSP00000354387:p.Ser31Asn					NMRK1_ENST00000376808.4_Missense_Mutation_p.S31N|NMRK1_ENST00000361092.4_Missense_Mutation_p.S31N	p.S35N			Q9NWW6	NRK1_HUMAN			4	566	-			31					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.104G>A	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284524	0.40394	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.46063	0.88;0.88;0.92	6.06	4.22	0.49857	.	0.265604	0.43110	D	0.000602	T	0.31949	0.0813	L	0.48642	1.525	0.28755	N	0.901238	P;P;B	0.36282	0.546;0.544;0.149	B;B;B	0.33690	0.168;0.113;0.048	T	0.14615	-1.0466	10	0.18710	T	0.47	-6.1292	10.2096	0.43132	0.0:0.6725:0.2572:0.0702	.	31;35;31	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	N	35;35;31;31	ENSP00000366007:S35N;ENSP00000354387:S31N;ENSP00000366004:S31N	ENSP00000354387:S31N	S	-	2	0	C9orf95	76882254	0.911000	0.30947	0.995000	0.50966	0.859000	0.49053	1.727000	0.38095	0.899000	0.36444	-0.136000	0.14681	AGT		0.318	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		60	268	0	0	0	1	0	60	268					T	77692434	C	T	77692434	3	4	79	1	0	0	0	0	1	0	0	0	2514	565	20	2	535	2	C9orf95	9	77692434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7724	77692434	63520997	10082	20399											
PCSK5	5125	broad.mit.edu	37	chr9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacaccaaccactgggcaGtcaaaatcgccgggggcttc	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000545128.1	+	1	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I|PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTGGGCAGTCAAAATCGC	0.637																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(121-123)Gtc>Atc		proprotein convertase subtilisin/kexin type 5							54	65	61					9																	78506218		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78506218G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.121G>A	9.37:g.78506218G>A	ENSP00000446280:p.Val41Ile					PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I	p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			1	659	+			41					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.121G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069113	0.93950	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	.	.	.	.	.	T	0.63414	0.2509	M	0.80332	2.49	0.50632	D	0.999883	P;B	0.49447	0.924;0.264	P;B	0.51266	0.664;0.17	T	0.70121	-0.4959	9	0.72032	D	0.01	.	17.4482	0.87584	0.0:0.0:1.0:0.0	.	41;41	Q92824-2;B1AMG5	.;.	I	41	ENSP00000446280:V41I;ENSP00000365958:V41I;ENSP00000365943:V41I	ENSP00000365943:V41I	V	+	1	0	PCSK5	77696038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.471000	0.66762	2.407000	0.81776	0.561000	0.74099	GTC		0.637	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				111	509	0	0	0	1	0	111	509					A	78506218	G	A	78506218	3	1	79	1	0	0	0	0	1	0	0	0	11645	1029	36	2	123	2	PCSK5	9	78506218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	813784	78506218	62707213	10083	20400											
PCSK5	5125	broad.mit.edu	37	chr9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatttggactgatggacgCagaagccatggtgatggagg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000545128.1	+	11	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	449	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGATGGACGCAGAAGCCATG	0.507																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1345-1347)gCa>gTa		proprotein convertase subtilisin/kexin type 5							160	135	144					9																	78771994		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78771994C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1346C>T	9.37:g.78771994C>T	ENSP00000446280:p.Ala449Val					PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V	p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			11	1884	+			449			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1346C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739395	0.96873	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94909	0.8063	10	0.87932	D	0	-17.4375	19.9458	0.97181	0.0:1.0:0.0:0.0	.	449;449	Q92824-2;B1AMG5	.;.	V	449;152;449;449;449;122	ENSP00000446280:A449V;ENSP00000365958:A449V;ENSP00000365943:A449V;ENSP00000411654:A122V	ENSP00000365943:A449V	A	+	2	0	PCSK5	77961814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.720000	0.93068	0.591000	0.81541	GCA		0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				109	412	0	0	0	1	0	109	412					T	78771994	C	T	78771994	3	4	79	1	0	0	0	0	1	0	0	0	11645	710	25	2	1388	2	PCSK5	9	78771994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265776	78771994	62441437	10084	20401											
PCSK5	5125	broad.mit.edu	37	chr9	78804038	78804038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgggtgcattaactgCacagagggctacttcatgga	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000545128.1	+	19	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000376752.4_Silent_p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2407-2409)tgC>tgT		proprotein convertase subtilisin/kexin type 5							116	98	104					9																	78804038		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78804038C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2409C>T	9.37:g.78804038C>T						PCSK5_ENST00000376752.4_Silent_p.C803C	p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			19	2947	+			803			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.2409C>T	CCDS55320.1																																																																																				0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				61	256	0	0	0	1	0	61	256					T	78804038	C	T	78804038	2	4	79	1	0	0	0	0	0	0	0	1	11645	718	25	2		2	PCSK5	9	78804038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32044	78804038	62409393	10085	20402											
RFK	55312	broad.mit.edu	37	chr9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcaaagttcttttctggtCtcaggtagccaacaatggcc	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	104					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368																																						ENST00000376736.1																			0				pancreas(1)|prostate(1)|urinary_tract(1)	3						c.(310-312)aGa>aAa		riboflavin kinase	Riboflavin(DB00140)						106	103	104					9																	79003496		2203	4300	6503	SO:0001583	missense	55312				riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	g.chr9:79003496C>T	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.311G>A	9.37:g.79003496C>T	ENSP00000365926:p.Arg104Lys					RFK_ENST00000479197.1_5'UTR	p.R104K	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN			3	644	-			104					Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	37	c.311G>A	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	C	34	5.302673	0.95601	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95531	0.8603	9	0.87932	D	0	-25.8219	17.6612	0.88193	0.0:1.0:0.0:0.0	.	111;104	B2RDZ2;Q969G6	.;RIFK_HUMAN	K	104;111;91	.	ENSP00000257452:R111K	R	-	2	0	RFK	78193316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.246000	0.74042	0.491000	0.48974	AGA		0.368	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	NM_018339		35	207	0	0	0	1	0	35	207					T	79003496	C	T	79003496	3	4	79	1	0	0	0	0	1	0	0	0	13301	913	32	2	164	2	RFK	9	79003496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199458	79003496	62209935	10086	20403											
GCNT1	2650	broad.mit.edu	37	chr9	79118164	79118164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctggcagtgcctacttCgtggtcagtagggagtatgt	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458																																						ENST00000442371.1																			1	Substitution - coding silent(1)	p.F289F(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(865-867)ttC>ttT		glucosaminyl (N-acetyl) transferase 1, core 2							113	97	102					9																	79118164		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118164C>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.867C>T	9.37:g.79118164C>T						GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000376730.4_Silent_p.F289F	p.F289F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1806	+			289			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.867C>T	CCDS6653.1																																																																																				0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		103	409	0	0	0	1	0	103	409					T	79118164	C	T	79118164	2	4	79	1	0	0	0	0	0	0	0	1	6328	883	31	1		1	GCNT1	9	79118164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114668	79118164	62095267	10087	20404											
PRUNE2	158471	broad.mit.edu	37	chr9	79253164	79253164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggcagaaaacaggcGgcaaacacaatgatggcatt	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000376718.3	-	13	8892	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7693-7695)gcC>gcT		prune homolog 2 (Drosophila)							72	67	68					9																	79253164		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79253164G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8769C>T	9.37:g.79253164G>A						PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000376718.3_Silent_p.A2923A|PRUNE2_ENST00000223609.6_Silent_p.A188A	p.A2565A			Q8WUY3	PRUN2_HUMAN			13	8895	-			2923					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.7695C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105719	0.20632	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.46	-7.36	0.01417	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-15.8655	10.1297	0.42672	0.7359:0.0874:0.0893:0.0874	.	.	.	.	C	2248	.	.	R	-	1	0	PRUNE2	78442984	0.000000	0.05858	0.935000	0.37517	0.994000	0.84299	-2.106000	0.01338	-0.994000	0.03463	-0.266000	0.10368	CGC		0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		24	137	0	0	0	1	0	24	137					A	79253164	G	A	79253164	2	1	79	1	0	0	0	0	0	0	0	1	12688	1103	39	1		1	PRUNE2	9	79253164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135000	79253164	61960267	10088	20405											
PRUNE2	158471	broad.mit.edu	37	chr9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattctgatatttccttgCtggcacctagaagtggaagt	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000376718.3	-	9	7643	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2507					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6442-6444)aGc>aAc		prune homolog 2 (Drosophila)							99	90	93					9																	79319009		1568	3581	5149	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319009C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7520G>A	9.37:g.79319009C>T	ENSP00000365908:p.Ser2507Asn					PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2507N	p.S2148N			Q8WUY3	PRUN2_HUMAN			9	7643	-			2507					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6443G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278327	0.23307	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.76	-2.51	0.06365	.	1.083170	0.06998	N	0.822869	T	0.32734	0.0839	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.48119	T	0.1	-0.0214	6.4439	0.21865	0.1272:0.3784:0.0:0.4944	.	2507	Q8WUY3	PRUN2_HUMAN	N	2507;2148;2506	ENSP00000365908:S2507N;ENSP00000397425:S2148N	ENSP00000365908:S2507N	S	-	2	0	PRUNE2	78508829	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-0.479000	0.06567	-0.144000	0.11314	0.655000	0.94253	AGC		0.358	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	349	0	0	0	1	0	66	349					T	79319009	C	T	79319009	3	4	79	1	0	0	0	0	1	0	0	0	12688	797	28	2	1790	2	PRUNE2	9	79319009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	79319009	61894422	10089	20406											
PRUNE2	158471	broad.mit.edu	37	chr9	79320449	79320449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatatccaagaaccGtcaccttctggagttggctc	9	12	3	2	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000376718.3	-	8	6864	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_ENST00000428286.1_Silent_p.D1888D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2247					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5662-5664)gaC>gaT		prune homolog 2 (Drosophila)		G		1,3135		0,1,1567	59	55	56		6741	-8.9	0	9	dbSNP_127	56	4,7160		0,4,3578	no	coding-synonymous	PRUNE2	NM_015225.2		0,5,5145	AA,AG,GG		0.0558,0.0319,0.0485		2247/3089	79320449	5,10295	1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320449G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6741C>T	9.37:g.79320449G>A						PRUNE2_ENST00000376718.3_Silent_p.D2247D	p.D1888D			Q8WUY3	PRUN2_HUMAN			8	6864	-			2247					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.5664C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217713	0.06101	3.19E-4	5.58E-4	ENSG00000106772	ENST00000426088	.	.	.	5.83	-8.89	0.00785	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-1.7271	4.4751	0.11731	0.5482:0.1679:0.1996:0.0843	rs41288769	.	.	.	W	1569	.	.	R	-	1	2	PRUNE2	78510269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.800000	0.04555	-1.221000	0.02591	-0.345000	0.07892	CGG		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		39	177	0	0	0	1	0	39	177					A	79320449	G	A	79320449	2	1	79	1	0	0	0	0	0	0	0	1	12688	1136	40	1		1	PRUNE2	9	79320449	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	79320449	61892982	10090	20407											
PRUNE2	158471	broad.mit.edu	37	chr9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctcagtgagacaaaGctcactggattccacttcag	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000376718.3	-	8	6523	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2134					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5323-5325)Ctt>Ttt		prune homolog 2 (Drosophila)							147	135	139					9																	79320790		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320790G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6400C>T	9.37:g.79320790G>A	ENSP00000365908:p.Leu2134Phe					PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2134F	p.L1775F			Q8WUY3	PRUN2_HUMAN			8	6523	-			2134					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5323C>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.566|6.566	0.472728|0.472728	0.12461|0.12461	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.81;0.8	5.88|5.88	0.462|0.462	0.16695|0.16695	.|.	.|1.215700	.|0.05871	.|N	.|0.624565	T|T	0.27765|0.27765	0.0683|0.0683	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	5|10	.|0.34782	.|T	.|0.22	0.4604|0.4604	1.4907|1.4907	0.02456|0.02456	0.2165:0.1181:0.3431:0.3223|0.2165:0.1181:0.3431:0.3223	.|.	.|2134	.|Q8WUY3	.|PRUN2_HUMAN	V|F	1455|2134;1775;2133	.|ENSP00000365908:L2134F;ENSP00000397425:L1775F	.|ENSP00000365908:L2134F	A|L	-|-	2|1	0|0	PRUNE2|PRUNE2	78510610|78510610	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.151000|0.151000	0.21798|0.21798	-0.644000|-0.644000	0.05415|0.05415	-0.156000|-0.156000	0.11079|0.11079	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		108	501	0	0	0	1	0	108	501					A	79320790	G	A	79320790	3	1	79	1	0	0	0	0	1	0	0	0	12688	971	34	2	2914	2	PRUNE2	9	79320790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	79320790	61892641	10091	20408											
PRUNE2	158471	broad.mit.edu	37	chr9	79320829	79320829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcccatgcaagcactgaGgtgcttctcagtctcttgct	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320829G>T	ENST00000376718.3	-	8	6484	c.6361C>A	c.(6361-6363)Ctc>Atc	p.L2121I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1762I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGCACTGAGGTGCTTCTCA	0.488																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5284-5286)Ctc>Atc		prune homolog 2 (Drosophila)							171	157	161					9																	79320829		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320829G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6361C>A	9.37:g.79320829G>T	ENSP00000365908:p.Leu2121Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2121I	p.L1762I			Q8WUY3	PRUN2_HUMAN			8	6484	-			2121					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5284C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.809|4.809	0.150360|0.150360	0.09185|0.09185	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.43688|.	0.94;0.94|.	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	1.523120|.	0.03547|.	N|.	0.224783|.	T|T	0.07098|0.07098	0.0180|0.0180	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.14755|0.14755	-1.0461|-1.0461	10|5	0.13853|.	T|.	0.58|.	4.6718|4.6718	1.9485|1.9485	0.03361|0.03361	0.1782:0.2471:0.3455:0.2292|0.1782:0.2471:0.3455:0.2292	.|.	2121|.	Q8WUY3|.	PRUN2_HUMAN|.	I|H	2121;1762;2120|1442	ENSP00000365908:L2121I;ENSP00000397425:L1762I|.	ENSP00000365908:L2121I|.	L|P	-|-	1|2	0|0	PRUNE2|PRUNE2	78510649|78510649	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.679000|-0.679000	0.05203|0.05203	-1.730000|-1.730000	0.01362|0.01362	-1.047000|-1.047000	0.02352|0.02352	CTC|CCT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		104	589	1	0	4.85316e-53	1	6.04383e-53	104	589					T	79320829	G	T	79320829	3	4	79	1	0	0	0	0	1	0	0	0	12688	1000	35	3	2953	3	PRUNE2	9	79320829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	79320829	61892602	10092	20409											
PRUNE2	158471	broad.mit.edu	37	chr9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttctccttctccactGctgtaatctgcatttcagtc	4	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000376718.3	-	8	5465	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1781					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4264-4266)gCa>gTa		prune homolog 2 (Drosophila)							121	94	102					9																	79321848		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321848G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5342C>T	9.37:g.79321848G>A	ENSP00000365908:p.Ala1781Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1781V	p.A1422V			Q8WUY3	PRUN2_HUMAN			8	5465	-			1781					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4265C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702586	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.36	1.23	0.21249	.	1.275240	0.05360	N	0.533570	T	0.20780	0.0500	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.22208	-1.0223	10	0.06757	T	0.87	-2.6408	4.4469	0.11602	0.2117:0.0:0.4988:0.2895	.	1781	Q8WUY3	PRUN2_HUMAN	V	1781;1422;1780	ENSP00000365908:A1781V;ENSP00000397425:A1422V	ENSP00000365908:A1781V	A	-	2	0	PRUNE2	78511668	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.252000	0.08806	0.736000	0.32559	0.655000	0.94253	GCA		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		27	118	0	0	0	1	0	27	118					A	79321848	G	A	79321848	3	1	79	1	0	0	0	0	1	0	0	0	12688	1319	46	2	3972	2	PRUNE2	9	79321848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	79321848	61891583	10093	20410											
PRUNE2	158471	broad.mit.edu	37	chr9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttggccatcagtggTaattagttcagattcttggt	9	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000376718.3	-	8	4885	c.4762A>G	c.(4762-4764)Acc>Gcc	p.T1588A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCAGTGGTAATTAGTTCA	0.408																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3685-3687)Acc>Gcc		prune homolog 2 (Drosophila)							111	95	100					9																	79322428		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322428T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4762A>G	9.37:g.79322428T>C	ENSP00000365908:p.Thr1588Ala					PRUNE2_ENST00000376718.3_Missense_Mutation_p.T1588A	p.T1229A			Q8WUY3	PRUN2_HUMAN			8	4885	-			1588					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3685A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419074|1.419074	0.25552|0.25552	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	5.91|5.91	-1.37|-1.37	0.09056|0.09056	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.20184|.	0.028|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.66056|.	D|.	0.02|.	-1.2138|-1.2138	2.5599|2.5599	0.04769|0.04769	0.3516:0.0676:0.1234:0.4574|0.3516:0.0676:0.1234:0.4574	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	A|C	1588;1229;1587|909	ENSP00000365908:T1588A;ENSP00000397425:T1229A|.	ENSP00000365908:T1588A|.	T|Y	-|-	1|2	0|0	PRUNE2|PRUNE2	78512248|78512248	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.860000|0.860000	0.49131|0.49131	-0.367000|-0.367000	0.07553|0.07553	0.123000|0.123000	0.18342|0.18342	-0.333000|-0.333000	0.08304|0.08304	ACC|TAC		0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	230	0	0	0	1	0	10	230					C	79322428	T	C	79322428	3	2	79	1	0	0	0	0	1	0	0	0	12688	1638	57	4	4552	4	PRUNE2	9	79322428	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	580	79322428	61891003	10094	20411											
PRUNE2	158471	broad.mit.edu	37	chr9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtatgctcatcagagGcagggagctcccaatctacc	10	13	3	1	rs560492060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000376718.3	-	8	3695	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1191					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20948	0.0		0.0	False		,,,				2504	0.001					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2494-2496)gCc>gTc		prune homolog 2 (Drosophila)							93	85	88					9																	79323618		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323618G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3572C>T	9.37:g.79323618G>A	ENSP00000365908:p.Ala1191Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1191V	p.A832V			Q8WUY3	PRUN2_HUMAN			8	3695	-			1191					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2495C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067125	0.07273	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51574	0.7;0.71	6.08	0.994	0.19832	.	1.282690	0.05135	N	0.493283	T	0.35189	0.0923	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1287	5.8732	0.18814	0.3438:0.0:0.537:0.1192	.	1191	Q8WUY3	PRUN2_HUMAN	V	1191;832;1190	ENSP00000365908:A1191V;ENSP00000397425:A832V	ENSP00000365908:A1191V	A	-	2	0	PRUNE2	78513438	0.003000	0.15002	0.009000	0.14445	0.031000	0.12232	0.395000	0.20850	0.142000	0.18901	-0.150000	0.13652	GCC		0.498	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	308	0	0	0	1	0	66	308					A	79323618	G	A	79323618	3	1	79	1	0	0	0	0	1	0	0	0	12688	1203	42	2	5742	2	PRUNE2	9	79323618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1190	79323618	61889813	10095	20412											
PRUNE2	158471	broad.mit.edu	37	chr9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctatcaatggagcttgGcttatgctctttccatgatt	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000376718.3	-	8	2194	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	691					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(994-996)Cca>Aca		prune homolog 2 (Drosophila)							45	42	43					9																	79325119		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325119G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2071C>A	9.37:g.79325119G>T	ENSP00000365908:p.Pro691Thr					PRUNE2_ENST00000376718.3_Missense_Mutation_p.P691T	p.P332T			Q8WUY3	PRUN2_HUMAN			8	2194	-			691					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.994C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-2.011002|-2.011002	0.00422|0.00422	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.21361	.|2.01;2.01	5.86|5.86	1.57|1.57	0.23409|0.23409	.|.	.|0.269957	.|0.26867	.|N	.|0.022094	T|T	0.10981|0.10981	0.0268|0.0268	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18967|0.18967	-1.0320|-1.0320	5|10	.|0.29301	.|T	.|0.29	-4.4713|-4.4713	1.4712|1.4712	0.02416|0.02416	0.1602:0.3388:0.2185:0.2825|0.1602:0.3388:0.2185:0.2825	.|.	.|691	.|Q8WUY3	.|PRUN2_HUMAN	D|T	12|691;332;690	.|ENSP00000365908:P691T;ENSP00000397425:P332T	.|ENSP00000365908:P691T	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78514939|78514939	0.715000|0.715000	0.27946|0.27946	0.757000|0.757000	0.31301|0.31301	0.159000|0.159000	0.22180|0.22180	-0.008000|-0.008000	0.12788|0.12788	0.313000|0.313000	0.23062|0.23062	-1.251000|-1.251000	0.01509|0.01509	GCC|CCA		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		28	112	1	0	7.41945e-09	1	7.77385e-09	28	112					T	79325119	G	T	79325119	3	4	79	1	0	0	0	0	1	0	0	0	12688	1203	42	3	7243	3	PRUNE2	9	79325119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1501	79325119	61888312	10096	20413											
PRUNE2	158471	broad.mit.edu	37	chr9	79438601	79438601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatttctccatctgacaGctcctttagatctttcaaca	3	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000376718.3	-	6	826	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_ENST00000428286.1_De_novo_Start_InFrame|PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	235					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16								prune homolog 2 (Drosophila)							147	123	131					9																	79438601		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79438601G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.703C>A	9.37:g.79438601G>T	ENSP00000365908:p.Leu235Met					PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000376718.3_Missense_Mutation_p.L235M				Q8WUY3	PRUN2_HUMAN			0	826	-								B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Translation_Start_Site	SNP	ENST00000376718.3	37		CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009893	0.35415	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.49139	0.79	5.58	3.77	0.43336	DHHA2 (1);	0.195283	0.35555	N	0.003133	T	0.58481	0.2125	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.81914	0.995;0.867	T	0.59005	-0.7535	10	0.72032	D	0.01	.	3.3472	0.07140	0.1412:0.1347:0.5853:0.1388	.	235;235	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	235;234;235	ENSP00000365908:L235M	ENSP00000365903:L235M	L	-	1	2	PRUNE2	78628421	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	1.101000	0.31037	0.743000	0.32719	-1.008000	0.02478	CTG		0.348	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		81	349	1	0	1.4051e-37	1	1.68838e-37	81	349					T	79438601	G	T	79438601	3	4	79	1	0	0	0	0	1	0	0	0	12688	962	34	3	8619	3	PRUNE2	9	79438601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113482	79438601	61774830	10097	20414											
FOXB2	442425	broad.mit.edu	37	chr9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcaatccagcactcgGccgagaagatgctgccgctg	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(88-90)Gcc>Acc		forkhead box B2							59	53	55					9																	79634658		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634658G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.88G>A	9.37:g.79634658G>A	ENSP00000365898:p.Ala30Thr						p.A30T	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	88	+			30						Missense_Mutation	SNP	ENST00000376708.1	37	c.88G>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629544	0.46944	.	.	ENSG00000204612	ENST00000376708	D	0.95447	-3.71	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.367704	0.27302	N	0.019985	D	0.91838	0.7417	N	0.11818	0.18	0.37583	D	0.919881	P	0.52170	0.951	P	0.49999	0.628	D	0.93456	0.6806	10	0.52906	T	0.07	.	12.8307	0.57744	0.0:0.1646:0.8354:0.0	.	30	Q5VYV0	FOXB2_HUMAN	T	30	ENSP00000365898:A30T	ENSP00000365898:A30T	A	+	1	0	FOXB2	78824478	0.000000	0.05858	0.990000	0.47175	0.780000	0.44128	-0.169000	0.09911	2.177000	0.69029	0.561000	0.74099	GCC		0.627	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		30	145	0	0	0	1	0	30	145					A	79634658	G	A	79634658	3	1	79	1	0	0	0	0	1	0	0	0	6018	1203	42	2	90	2	FOXB2	9	79634658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196057	79634658	61578773	10098	20415											
FOXB2	442425	broad.mit.edu	37	chr9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccgcgagcacacacagCgctggcagaacagcctgcgc	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(166-168)Cgc>Tgc		forkhead box B2							77	69	72					9																	79634736		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634736C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.166C>T	9.37:g.79634736C>T	ENSP00000365898:p.Arg56Cys						p.R56C	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	166	+			56						Missense_Mutation	SNP	ENST00000376708.1	37	c.166C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842987	0.51057	.	.	ENSG00000204612	ENST00000376708	D	0.95588	-3.75	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.87932	D	0	.	11.926	0.52819	0.1742:0.8258:0.0:0.0	.	56	Q5VYV0	FOXB2_HUMAN	C	56	ENSP00000365898:R56C	ENSP00000365898:R56C	R	+	1	0	FOXB2	78824556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.316000	0.33620	2.104000	0.64026	0.561000	0.74099	CGC		0.607	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		52	248	0	0	0	1	0	52	248					T	79634736	C	T	79634736	3	4	79	1	0	0	0	0	1	0	0	0	6018	768	27	1	168	1	FOXB2	9	79634736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	79634736	61578695	10099	20416											
FOXB2	442425	broad.mit.edu	37	chr9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccagccgccgccgccgCcgcccccgccgccgccgcac	10	28	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	169	Poly-Pro.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(505-507)Ccg>Tcg		forkhead box B2							3	6	5					9																	79635075		1149	2759	3908	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635075C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.505C>T	9.37:g.79635075C>T	ENSP00000365898:p.Pro169Ser						p.P169S	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	505	+			169			Poly-Pro.			Missense_Mutation	SNP	ENST00000376708.1	37	c.505C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.881054	0.17467	.	.	ENSG00000204612	ENST00000376708	T	0.47869	0.83	3.04	3.04	0.35103	.	1.888570	0.02789	N	0.121804	T	0.29749	0.0743	N	0.08118	0	0.35303	D	0.78321	.	.	.	.	.	.	T	0.25606	-1.0127	8	0.06365	T	0.9	.	11.8789	0.52562	0.0:1.0:0.0:0.0	.	169	Q5VYV0	FOXB2_HUMAN	S	169	ENSP00000365898:P169S	ENSP00000365898:P169S	P	+	1	0	FOXB2	78824895	0.000000	0.05858	0.983000	0.44433	0.875000	0.50365	-0.005000	0.12855	1.417000	0.47077	0.313000	0.20887	CCG		0.701	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		17	81	0	0	0	1	0	17	81					T	79635075	C	T	79635075	3	4	79	1	0	0	0	0	1	0	0	0	6018	739	26	2	507	2	FOXB2	9	79635075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	79635075	61578356	10100	20417											
VPS13A	23230	broad.mit.edu	37	chr9	79841408	79841408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctggatacaaaatttaCaaagaaggagtaaaagatcc	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	417					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAAAATTTACAAAGAAGGAG	0.318																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1249-1251)taC>taT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							79	85	83					9																	79841408		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79841408C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1251C>T	9.37:g.79841408C>T						VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			15	1511	+			417					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.1251C>T	CCDS6655.1																																																																																				0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		42	228	0	0	0	1	0	42	228					T	79841408	C	T	79841408	2	4	79	1	0	0	0	0	0	0	0	1	17243	489	17	2		2	VPS13A	9	79841408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206333	79841408	61372023	10101	20418											
VPS13A	23230	broad.mit.edu	37	chr9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtacccatgcacttcaatTtggaactgtctaaggccatg	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	748					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCACTTCAATTTGGAACTGTC	0.373																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2242-2244)Ttg>Gtg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							230	222	225					9																	79867222		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867222T>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2242T>G	9.37:g.79867222T>G	ENSP00000353422:p.Leu748Val					VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			22	2502	+			748					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2242T>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	1.599	-0.527033	0.04141	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.46	2.52	0.30459	.	0.372540	0.24647	N	0.036745	T	0.09686	0.0238	N	0.00760	-1.21	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.06607	-1.0817	10	0.28530	T	0.3	.	3.2004	0.06647	0.2078:0.1156:0.5499:0.1267	.	748;748;748;748	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	748	ENSP00000365821:L748V;ENSP00000365823:L748V;ENSP00000353422:L748V;ENSP00000349985:L748V	ENSP00000349985:L748V	L	+	1	2	VPS13A	79057042	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	1.953000	0.40352	0.625000	0.30304	-0.396000	0.06452	TTG		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		139	569	0	0	0	1	0	139	569					G	79867222	T	G	79867222	3	3	79	1	0	0	0	0	1	0	0	0	17243	1838	64	4	2328	4	VPS13A	9	79867222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25814	79867222	61346209	10102	20419											
VPS13A	23230	broad.mit.edu	37	chr9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcactggaaaagaagttTtcagcttcaaaatggtttct	7	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1123					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGAAGTTTTCAGCTTCAA	0.303																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3367-3369)Ttc>Ctc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							106	109	108					9																	79908284		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79908284T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3367T>C	9.37:g.79908284T>C	ENSP00000353422:p.Phe1123Leu					VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L	p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			32	3627	+			1123					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3367T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656337	0.88056	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.19;1.03;1.1;1.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.89917	0.924;0.998;1.0;1.0	P;D;D;D	0.91635	0.635;0.99;0.999;0.999	T	0.55062	-0.8199	10	0.15499	T	0.54	.	15.4213	0.75015	0.0:0.0:0.0:1.0	.	1084;1123;1123;1123	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1123;1084;1123;1123	ENSP00000365821:F1123L;ENSP00000365823:F1084L;ENSP00000353422:F1123L;ENSP00000349985:F1123L	ENSP00000349985:F1123L	F	+	1	0	VPS13A	79098104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.553000	0.82203	2.064000	0.61679	0.397000	0.26171	TTC		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		79	275	0	0	0	1	0	79	275					C	79908284	T	C	79908284	3	2	79	1	0	0	0	0	1	0	0	0	17243	1841	64	4	3493	4	VPS13A	9	79908284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41062	79908284	61305147	10103	20420											
VPS13A	23230	broad.mit.edu	37	chr9	79930362	79930362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtagaaaccagtgtgCaaacatggactgctaaggaa	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79930362C>T	ENST00000360280.3	+	38	4866	c.4606C>T	c.(4606-4608)Caa>Taa	p.Q1536*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1536					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACCAGTGTGCAAACATGGAC	0.373																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(4606-4608)Caa>Taa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							92	89	90					9																	79930362		2203	4300	6503	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79930362C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4606C>T	9.37:g.79930362C>T	ENSP00000353422:p.Gln1536*					VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*	p.Q1536*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			38	4866	+			1536					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.4606C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	45	11.782466	0.99602	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.66	5.66	0.87406	.	0.637723	0.15298	N	0.269795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7566	0.96296	0.0:1.0:0.0:0.0	.	.	.	.	X	1536;1497;1536;1536	.	ENSP00000349985:Q1536X	Q	+	1	0	VPS13A	79120182	1.000000	0.71417	0.974000	0.42286	0.939000	0.58152	4.827000	0.62723	2.671000	0.90904	0.563000	0.77884	CAA		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	298	0	0	0	1	0	7	298					T	79930362	C	T	79930362	4	4	79	1	0	0	0	0	0	1	0	0	17243	711	25	2	4756	2	VPS13A	9	79930362	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22078	79930362	61283069	10104	20421											
VPS13A	23230	broad.mit.edu	37	chr9	79933430	79933430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagaacagtacctatgcttCtggcaaagtcacgtttttca	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Silent_p.L1746L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1746					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTATGCTTCTGGCAAAGTC	0.378																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(5236-5238)Ctg>Ttg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							68	70	70					9																	79933430		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79933430C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5236C>T	9.37:g.79933430C>T						VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L	p.L1746L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			41	5496	+			1746					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.5236C>T	CCDS6655.1																																																																																				0.378	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		35	410	0	0	0	1	0	35	410					T	79933430	C	T	79933430	2	4	79	1	0	0	0	0	0	0	0	1	17243	912	32	2		2	VPS13A	9	79933430	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	79933430	61280001	10105	20422											
VPS13A	23230	broad.mit.edu	37	chr9	79934591	79934591	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaatcttggtatcaaggTatatctatatatgtctatgt	8	4	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTATCAAGGtatatctatat	0.289																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.e42+2		vacuolar protein sorting 13 homolog A (S. cerevisiae)							75	74	75					9																	79934591		2202	4299	6501	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79934591T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5415+2T>C	9.37:g.79934591T>C						VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site		NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			42	5675	+								Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37		CCDS6655.1																																																																																				0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Intron	21	89	0	0	0	1	0	21	89					C	79934591	T	C	79934591	5	2	79	1	0	0	0	0	0	0	1	0	17243	1652	57	4	5583	4	VPS13A	9	79934591	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1161	79934591	61278840	10106	20423											
VPS13A	23230	broad.mit.edu	37	chr9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggatatgatgatgcctataGatttgggggaaaagacaata	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2480					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGCCTATAGATTTGGGGGA	0.279																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7438-7440)Gat>Tat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							63	65	64					9																	79968343		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79968343G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7438G>T	9.37:g.79968343G>T	ENSP00000353422:p.Asp2480Tyr					VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			54	7698	+			2480					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7438G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432306	0.12045	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48836	0.96;0.8;0.87;0.96	5.22	-0.24	0.13047	.	0.697544	0.14185	N	0.335709	T	0.28234	0.0697	N	0.24115	0.695	0.26116	N	0.980619	B;B;B;B	0.11235	0.001;0.004;0.001;0.0	B;B;B;B	0.16722	0.016;0.003;0.007;0.007	T	0.15350	-1.0440	10	0.33141	T	0.24	.	5.5173	0.16914	0.3879:0.2722:0.3399:0.0	.	2441;2480;2480;2480	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2480;2441;2480;2480	ENSP00000365821:D2480Y;ENSP00000365823:D2441Y;ENSP00000353422:D2480Y;ENSP00000349985:D2480Y	ENSP00000349985:D2480Y	D	+	1	0	VPS13A	79158163	0.780000	0.28664	0.317000	0.25265	0.604000	0.37047	1.524000	0.35942	-0.303000	0.08856	-0.274000	0.10170	GAT		0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		30	226	1	0	1.80694e-10	1	1.9163e-10	30	226					T	79968343	G	T	79968343	3	4	79	1	0	0	0	0	1	0	0	0	17243	942	33	3	7652	3	VPS13A	9	79968343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33752	79968343	61245088	10107	20424											
VPS13A	23230	broad.mit.edu	37	chr9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactaggacttaaggcactaGttggtggagctgttggtaag	14	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2910					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAAGGCACTAGTTGGTGGAGC	0.393																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8728-8730)Gtt>Ttt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							98	95	96					9																	79985233		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985233G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8728G>T	9.37:g.79985233G>T	ENSP00000353422:p.Val2910Phe					VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			64	8988	+			2910					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8728G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147356	0.21288	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54071	0.77;0.59;0.68;0.75	5.59	4.68	0.58851	.	0.057766	0.64402	D	0.000001	T	0.57272	0.2042	N	0.20530	0.585	0.80722	D	1	B;D;D;D	0.89917	0.189;1.0;0.999;1.0	B;D;D;D	0.97110	0.076;0.999;0.99;1.0	T	0.56402	-0.7985	9	.	.	.	.	14.8084	0.69974	0.0:0.2734:0.7266:0.0	.	2871;2910;2910;2910	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2910;2871;2910;2910	ENSP00000365821:V2910F;ENSP00000365823:V2871F;ENSP00000353422:V2910F;ENSP00000349985:V2910F	.	V	+	1	0	VPS13A	79175053	1.000000	0.71417	0.932000	0.37286	0.994000	0.84299	3.027000	0.49697	1.329000	0.45376	0.467000	0.42956	GTT		0.393	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		61	241	1	0	2.165e-29	1	2.52906e-29	61	241					T	79985233	G	T	79985233	3	4	79	1	0	0	0	0	1	0	0	0	17243	1029	36	3	8982	3	VPS13A	9	79985233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16890	79985233	61228198	10108	20425											
GNA14	9630	broad.mit.edu	37	chr9	80046298	80046298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtggtgggcactcggaCgcgaagcacatcttgttggg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80046298C>T	ENST00000341700.6	-	4	1045	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGCACTCGGACGCGAAGCACA	0.488																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(532-534)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha 14							204	165	178					9																	80046298		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046298C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.532G>A	9.37:g.80046298C>T	ENSP00000365807:p.Val178Ile					GNA14_ENST00000464095.1_5'UTR	p.V178I	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	1045	-			178					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.532G>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318927	0.81469	.	.	ENSG00000156049	ENST00000341700	D	0.88431	-2.38	5.42	4.5	0.54988	G protein alpha subunit, helical insertion (1);	0.056069	0.64402	D	0.000001	D	0.90813	0.7115	L	0.41906	1.305	0.54753	D	0.999987	P	0.42973	0.796	P	0.57425	0.82	D	0.91752	0.5413	10	0.87932	D	0	.	15.2135	0.73244	0.1421:0.8579:0.0:0.0	.	178	O95837	GNA14_HUMAN	I	178	ENSP00000365807:V178I	ENSP00000365807:V178I	V	-	1	0	GNA14	79236118	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.752000	0.85141	1.358000	0.45922	0.655000	0.94253	GTC		0.488	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			8	430	0	0	0	1	0	8	430					T	80046298	C	T	80046298	3	4	79	1	0	0	0	0	1	0	0	0	6531	536	19	1	551	1	GNA14	9	80046298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61065	80046298	61167133	10109	20426											
GNAQ	2776	broad.mit.edu	37	chr9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccctgtggtggggactcGaactctaagcacatcttgtt	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"guanine nucleotide binding protein (G protein), q polypeptide"			E			uveal melanoma		1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(547-549)Cga>Tga		guanine nucleotide binding protein (G protein), q polypeptide							155	118	131					9																	80412494		2203	4300	6503	SO:0001587	stop_gained	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80412494G>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.547C>T	9.37:g.80412494G>A	ENSP00000286548:p.Arg183*					GNAQ_ENST00000397476.3_5'UTR	p.R183*	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			4	769	-			183					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	c.547C>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	GNAQ	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		85	166	0	0	0	1	0	85	166					A	80412494	G	A	80412494	4	1	79	1	0	0	0	0	0	1	0	0	6538	1066	37	1	548	1	GNAQ	9	80412494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366196	80412494	60800937	10110	20427											
CEP78	84131	broad.mit.edu	37	chr9	80866840	80866840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggattggctacaaagaaAcctgtaagtagtggcagaaa	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	362					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1084-1086)aaA>aaG		centrosomal protein 78kDa							46	49	48					9																	80866840		1880	4115	5995	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866840A>G	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1086A>G	9.37:g.80866840A>G						CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K	p.K362K			Q5JTW2	CEP78_HUMAN			9	1375	+			362					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.1086A>G																																																																																					0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		12	64	0	0	0	1	0	12	64					G	80866840	A	G	80866840	2	3	79	1	0	0	0	0	0	0	0	1	3271	40	2	4		4	CEP78	9	80866840	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	454346	80866840	60346591	10111	20428											
CEP78	84131	broad.mit.edu	37	chr9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgccgtggcgtactgcaGaacgtgcaaaaagacacagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	396					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1186-1188)Gaa>Aaa		centrosomal protein 78kDa							36	36	36					9																	80866940		1863	4094	5957	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866940G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1186G>A	9.37:g.80866940G>A	ENSP00000411284:p.Glu396Lys					CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K	p.E396K			Q5JTW2	CEP78_HUMAN			9	1475	+			396					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692335	0.68271	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28666	1.61;1.8;1.6;1.61;1.6	5.51	3.57	0.40892	.	0.299706	0.31246	N	0.007995	T	0.45478	0.1344	M	0.69823	2.125	0.30262	N	0.793045	D;P;D	0.62365	0.991;0.801;0.967	P;B;P	0.53760	0.734;0.314;0.614	T	0.52328	-0.8590	10	0.41790	T	0.15	-8.1064	14.7238	0.69329	0.0:0.276:0.724:0.0	.	397;397;396	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	396;396;397;397;396;396	ENSP00000411284:E396K;ENSP00000399286:E397K;ENSP00000365782:E397K;ENSP00000277082:E396K;ENSP00000365783:E396K	ENSP00000277082:E396K	E	+	1	0	CEP78	80056760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.034000	0.49751	0.622000	0.30249	0.655000	0.94253	GAA		0.413	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		15	64	0	0	0	1	0	15	64					A	80866940	G	A	80866940	3	1	79	1	0	0	0	0	1	0	0	0	3271	943	33	2	1223	2	CEP78	9	80866940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	80866940	60346491	10112	20429											
TLE4	7091	broad.mit.edu	37	chr9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcaccatgacaatgAtcaccaaagaggtgagtaac	10	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376552.2	+	7	1599	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	194	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGACAATGATCACCAAAGA	0.483																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(580-582)gAt>gGt		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							79	78	78					9																	82267698		1949	4149	6098	SO:0001583	missense	7091							g.chr9:82267698A>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.581A>G	9.37:g.82267698A>G	ENSP00000365735:p.Asp194Gly					TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G	p.D194G			O60756	BCE1_HUMAN			7	1409	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.581A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432175	0.62844	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.49139	0.82;0.84;0.91;0.79;0.91;0.93;0.79;1.47;1.88	6.04	6.04	0.98038	.	0.254009	0.42420	D	0.000719	T	0.50394	0.1613	L	0.45137	1.4	0.80722	D	1	B;B;P;B	0.38250	0.001;0.122;0.624;0.145	B;B;P;B	0.44772	0.005;0.06;0.46;0.187	T	0.46952	-0.9154	10	0.44086	T	0.13	-21.7834	16.5885	0.84745	1.0:0.0:0.0:0.0	.	169;194;194;194	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	G	194;194;194;208;208;194;169;192;179;64	ENSP00000365735:D194G;ENSP00000365727:D194G;ENSP00000365703:D194G;ENSP00000415423:D208G;ENSP00000365720:D194G;ENSP00000265284:D169G;ENSP00000412567:D192G;ENSP00000409313:D179G;ENSP00000417844:D64G	ENSP00000265284:D169G	D	+	2	0	TLE4	81457518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.672000	0.91181	2.317000	0.78254	0.460000	0.39030	GAT		0.483	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		61	286	0	0	0	1	0	61	286					G	82267698	A	G	82267698	3	3	79	1	0	0	0	0	1	0	0	0	15993	333	12	4	607	4	TLE4	9	82267698	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1400758	82267698	58945733	10113	20430											
TLE4	7091	broad.mit.edu	37	chr9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaattccagagctcttcaGtatccccatcagccagtttc	5	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	207	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGCTCTTCAGTATCCCCATC	0.413																																						ENST00000376552.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(619-621)Gta>Tta		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							166	165	165					9																	82319707		1844	4097	5941	SO:0001583	missense	7091							g.chr9:82319707G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.619G>T	9.37:g.82319707G>T	ENSP00000365735:p.Val207Leu					TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L	p.V207L	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN			9	1637	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.619G>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805586|3.805586	0.70682|0.70682	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376544;ENST00000376520|ENST00000376552;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T	.|0.43294	.|0.95;1.06;1.05;1.59;1.99;1.31	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26304	.|0.0642	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001	.|T	.|0.19289	.|-1.0310	.|9	.|0.02654	.|T	.|1	.|2.9876	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;207;207;207	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	.|L	-1|207;207;182;192;77;4	.|ENSP00000365735:V207L;ENSP00000365720:V207L;ENSP00000265284:V182L;ENSP00000409313:V192L;ENSP00000417844:V77L;ENSP00000418409:V4L	.|ENSP00000265284:V182L	.|V	+|+	.|1	.|0	TLE4|TLE4	81509527|81509527	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.975000|0.975000	0.68041|0.68041	7.953000|7.953000	0.87836|0.87836	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	.|GTA		0.413	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		199	843	1	0	9.20999e-90	1	1.18197e-89	199	843					T	82319707	G	T	82319707	3	4	79	1	0	0	0	0	1	0	0	0	15993	1029	36	3	653	3	TLE4	9	82319707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52009	82319707	58893724	10114	20431											
TLE4	7091	broad.mit.edu	37	chr9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccatttgggacctggCggctccaaccccacgcatca	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376552.2	+	16	2706	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	563					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGACCTGGCGGCTCCAACC	0.582																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1783-1785)gCg>gTg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							64	63	63					9																	82335058		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82335058C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1688C>T	9.37:g.82335058C>T	ENSP00000365735:p.Ala563Val					TLE4_ENST00000376552.2_Missense_Mutation_p.A563V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V	p.A595V			O60756	BCE1_HUMAN			17	2612	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1784C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636386	0.87760	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.71	5.71	0.89125	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	0.19406	0.0466	L	0.35723	1.085	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;0.98;1.0	P;B;B;P	0.52454	0.699;0.229;0.347;0.691	T	0.00128	-1.2018	10	0.66056	D	0.02	-18.4705	19.8557	0.96758	0.0:1.0:0.0:0.0	.	538;494;595;563	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	563;494;595;595;200;538	ENSP00000365735:A563V;ENSP00000365727:A494V;ENSP00000365703:A595V;ENSP00000365720:A595V;ENSP00000365717:A200V;ENSP00000265284:A538V	ENSP00000265284:A538V	A	+	2	0	TLE4	81524878	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	GCG		0.582	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		53	220	0	0	0	1	0	53	220					T	82335058	C	T	82335058	3	4	79	1	0	0	0	0	1	0	0	0	15993	768	27	1	1750	1	TLE4	9	82335058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15351	82335058	58878373	10115	20432											
TLE4	7091	broad.mit.edu	37	chr9	82336698	82336698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagctgtattgacatTtctaatgatggcaccaagct	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376552.2	+	17	2899	c.1881T>C	c.(1879-1881)atT>atC	p.I627I	TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376534.4_Silent_p.I264I|TLE4_ENST00000376537.4_Silent_p.I659I	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	627					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTATTGACATTTCTAATGATG	0.507																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1975-1977)atT>atC		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							73	73	73					9																	82336698		2203	4300	6503	SO:0001819	synonymous_variant	7091							g.chr9:82336698T>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1881T>C	9.37:g.82336698T>C						TLE4_ENST00000376552.2_Silent_p.I627I|TLE4_ENST00000376534.4_Silent_p.I264I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376537.4_Silent_p.I659I	p.I659I			O60756	BCE1_HUMAN			18	2805	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1977T>C	CCDS43837.1																																																																																				0.507	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	335	0	0	0	1	0	9	335					C	82336698	T	C	82336698	2	2	79	1	0	0	0	0	0	0	0	1	15993	1829	64	4		4	TLE4	9	82336698	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1640	82336698	58876733	10116	20433											
TLE1	7088	broad.mit.edu	37	chr9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgccgtcgctgcagcatgaGaagcagaccttggaatcggg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	590					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)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1768-1770)ttC>ttA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							87	83	85					9																	84205779		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.chr9:84205779G>T		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.1770C>A	9.37:g.84205779G>T	ENSP00000365682:p.Phe590Leu						p.F590L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2834	-			590					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1770C>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	32	5.149377	0.94645	.	.	ENSG00000196781	ENST00000376499	T	0.58060	0.36	5.96	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043738	0.85682	D	0.000000	T	0.65688	0.2715	L	0.49571	1.57	0.80722	D	1	P;D;P	0.62365	0.887;0.991;0.624	P;D;P	0.70716	0.634;0.97;0.537	T	0.66830	-0.5824	10	0.87932	D	0	-24.4386	13.694	0.62567	0.1244:0.0:0.8756:0.0	.	575;616;590	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	L	590	ENSP00000365682:F590L	ENSP00000365682:F590L	F	-	3	2	TLE1	83395599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.394000	0.52551	2.832000	0.97577	0.655000	0.94253	TTC		0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		98	419	1	0	1.42366e-38	1	1.7169e-38	98	419					T	84205779	G	T	84205779	3	4	79	1	0	0	0	0	1	0	0	0	15990	933	33	3	562	3	TLE1	9	84205779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869081	84205779	57007652	10117	20434											
TLE1	7088	broad.mit.edu	37	chr9	84228383	84228383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccggcgttggcatgtcGctccgaggcgttggtgtgct	17	11	0	0	rs566199044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	324	Pro/Ser-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)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16159	0.0		0.0	False		,,,				2504	0.0				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(970-972)agC>agT		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							123	125	124					9																	84228383		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84228383G>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.972C>T	9.37:g.84228383G>A						TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	p.S324S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			12	2036	-			324			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.972C>T	CCDS6661.1																																																																																				0.537	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		92	467	0	0	0	1	0	92	467					A	84228383	G	A	84228383	2	1	79	1	0	0	0	0	0	0	0	1	15990	1078	38	1		1	TLE1	9	84228383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22604	84228383	56985048	10118	20435											
FLJ46321	389763	broad.mit.edu	37	chr9	84605879	84605879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcttcttcggcttctgCgactgagtcatcgttcactc	9	12	4	1	rs536036092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84605879C>T	ENST00000344803.2	+	4	541	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	165					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCGGCTTCTGCGACTGAGTCA	0.562																																						ENST00000344803.2																			0											c.(493-495)gCg>gTg		SPATA31 subfamily D, member 1							120	119	120					9																	84605879		2007	4168	6175	SO:0001583	missense	389763							g.chr9:84605879C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.494C>T	9.37:g.84605879C>T	ENSP00000341988:p.Ala165Val						p.A165V	NM_001001670.2	NP_001001670.1					4	541	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.494C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.663843	0.00772	.	.	ENSG00000214929	ENST00000344803	T	0.03982	3.74	2.8	-1.13	0.09775	.	2.086360	0.02128	N	0.056144	T	0.01800	0.0057	N	0.02539	-0.55	0.09310	N	1	B	0.18968	0.032	B	0.06405	0.002	T	0.37079	-0.9721	10	0.06757	T	0.87	-1.3739	2.9947	0.05994	0.0:0.285:0.235:0.48	.	165	Q6ZQQ2	F75D1_HUMAN	V	165	ENSP00000341988:A165V	ENSP00000341988:A165V	A	+	2	0	FAM75D1	83795699	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.925000	0.03992	-0.203000	0.10251	-1.409000	0.01127	GCG		0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	395	0	0	0	1	0	11	395					T	84605879	C	T	84605879	3	4	79	1	0	0	0	0	1	0	0	0	5957	768	27	1	508	1	FLJ46321	9	84605879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377496	84605879	56607552	10119	20436											
FLJ46321	389763	broad.mit.edu	37	chr9	84609292	84609292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgagacccaaaggaggaGagcttgatggaggggatgca	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609292G>A	ENST00000344803.2	+	4	3954	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1303					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAAGGAGGAGAGCTTGATGG	0.542																																						ENST00000344803.2																			0											c.(3907-3909)Gag>Aag		SPATA31 subfamily D, member 1							35	36	35					9																	84609292		1937	4145	6082	SO:0001583	missense	389763							g.chr9:84609292G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3907G>A	9.37:g.84609292G>A	ENSP00000341988:p.Glu1303Lys						p.E1303K	NM_001001670.2	NP_001001670.1					4	3954	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3907G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646090	0.47258	.	.	ENSG00000214929	ENST00000344803	T	0.09630	2.96	3.26	0.291	0.15732	.	1.212120	0.06379	N	0.714970	T	0.07818	0.0196	L	0.34521	1.04	0.09310	N	1	P	0.46142	0.873	B	0.36959	0.237	T	0.34229	-0.9837	10	0.46703	T	0.11	-4.3388	5.5373	0.17018	0.3928:0.0:0.6072:0.0	.	1303	Q6ZQQ2	F75D1_HUMAN	K	1303	ENSP00000341988:E1303K	ENSP00000341988:E1303K	E	+	1	0	FAM75D1	83799112	0.022000	0.18835	0.001000	0.08648	0.009000	0.06853	1.405000	0.34635	0.060000	0.16281	0.655000	0.94253	GAG		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		36	172	0	0	0	1	0	36	172					A	84609292	G	A	84609292	3	1	79	1	0	0	0	0	1	0	0	0	5957	943	33	2	3921	2	FLJ46321	9	84609292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3413	84609292	56604139	10120	20437											
FLJ46321	389763	broad.mit.edu	37	chr9	84609877	84609877	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatagacaaggacagaCagccccagaaagttgaggca	11	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609877C>T	ENST00000344803.2	+	4	4539	c.4492C>T	c.(4492-4494)Cag>Tag	p.Q1498*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1498					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGGACAGACAGCCCCAGAA	0.483																																						ENST00000344803.2																			0											c.(4492-4494)Cag>Tag		SPATA31 subfamily D, member 1							59	58	58					9																	84609877		2027	4175	6202	SO:0001587	stop_gained	389763							g.chr9:84609877C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4492C>T	9.37:g.84609877C>T	ENSP00000341988:p.Gln1498*						p.Q1498*	NM_001001670.2	NP_001001670.1					4	4539	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.4492C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.041485	0.97226	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.67	-5.34	0.02705	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	10.7897	0.1504	0.00092	0.3035:0.2159:0.1499:0.3307	.	.	.	.	X	1498	.	ENSP00000341988:Q1498X	Q	+	1	0	FAM75D1	83799697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.617000	0.05584	-1.408000	0.02040	-0.895000	0.02911	CAG		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		29	169	0	0	0	1	0	29	169					T	84609877	C	T	84609877	4	4	79	1	0	0	0	0	0	1	0	0	5957	479	17	2	4506	2	FLJ46321	9	84609877	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585	84609877	56603554	10121	20438											
RASEF	158158	broad.mit.edu	37	chr9	85637250	85637250	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaacccagaaactcaCgtctttccgtgtcttatgtt	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAAACTCACGTCTTTCCGT	0.502																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.e3+1		RAS and EF-hand domain containing							246	209	221					9																	85637250		2203	4300	6503	SO:0001630	splice_region_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85637250C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.669+1G>A	9.37:g.85637250C>T								NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			3	930	-								A6NC29|Q96N04	Splice_Site	SNP	ENST00000376447.3	37		CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246870	0.80024	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	RASEF	84827070	1.000000	0.71417	0.886000	0.34754	0.932000	0.56968	5.111000	0.64628	1.497000	0.48584	0.655000	0.94253	.		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	Intron	88	433	0	0	0	1	0	88	433					T	85637250	C	T	85637250	5	4	79	1	0	0	0	0	0	0	1	0	13118	550	19	1	1612	1	RASEF	9	85637250	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1027373	85637250	55576181	10122	20439											
FRMD3	257019	broad.mit.edu	37	chr9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaggagagatcaatacctGactccaaaaggaggaggagc	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	552						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCAATACCTGACTCCAAAAG	0.517																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1654-1656)tCa>tTa		FERM domain containing 3							63	66	65					9																	85862972		1931	4139	6070	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85862972G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1655C>T	9.37:g.85862972G>A	ENSP00000303508:p.Ser552Leu					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L	p.S552L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1861	-			552					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1655C>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662574	0.88251	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.90563	-2.22;-2.69;-0.25;-2.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.994;0.998	D	0.95210	0.8324	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	552;552;209	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	L	552;358;209;552	ENSP00000365621:S552L;ENSP00000365617:S358L;ENSP00000328615:S209L;ENSP00000303508:S552L	ENSP00000303508:S552L	S	-	2	0	FRMD3	85052792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.340000	0.97038	2.699000	0.92147	0.655000	0.94253	TCA		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		75	329	0	0	0	1	0	75	329					A	85862972	G	A	85862972	3	1	79	1	0	0	0	0	1	0	0	0	6077	1294	45	2	142	2	FRMD3	9	85862972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225722	85862972	55350459	10123	20440											
FRMD3	257019	broad.mit.edu	37	chr9	85863059	85863059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaactcttgaccagtGggttcacccgaatatggcca	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85863059G>T	ENST00000304195.3	-	14	1774	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	523						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTGACCAGTGGGTTCACCCG	0.517																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1567-1569)cCa>cAa		FERM domain containing 3							62	66	65					9																	85863059		1951	4148	6099	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863059G>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1568C>A	9.37:g.85863059G>T	ENSP00000303508:p.Pro523Gln					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q	p.P523Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1774	-			523					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1568C>A	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600036	0.28534	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.85411	-1.57;-1.98;0.93;-1.57	5.69	4.74	0.60224	.	0.213391	0.47852	D	0.000220	T	0.80803	0.4693	L	0.44542	1.39	0.30744	N	0.745893	B;B;B	0.33583	0.112;0.078;0.418	B;B;B	0.36504	0.039;0.06;0.226	T	0.76402	-0.2972	10	0.20046	T	0.44	.	15.4669	0.75409	0.0:0.0:0.8608:0.1392	.	523;523;180	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	523;329;180;523	ENSP00000365621:P523Q;ENSP00000365617:P329Q;ENSP00000328615:P180Q;ENSP00000303508:P523Q	ENSP00000303508:P523Q	P	-	2	0	FRMD3	85052879	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.125000	0.64715	2.699000	0.92147	0.655000	0.94253	CCA		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		72	321	1	0	2.03652e-46	1	2.50201e-46	72	321					T	85863059	G	T	85863059	3	4	79	1	0	0	0	0	1	0	0	0	6077	1348	47	3	229	3	FRMD3	9	85863059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	85863059	55350372	10124	20441											
UBQLN1	29979	broad.mit.edu	37	chr9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaagaactgatacctgagGatttactccagcaagagcct	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	538				NP -> YS (in Ref. 4; BAB20436). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(1612-1614)Cct>Act		ubiquilin 1							129	120	123					9																	86278795		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86278795G>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1612C>A	9.37:g.86278795G>T	ENSP00000365576:p.Pro538Thr					UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	p.P538T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			10	2135	-			538	NP -> YS (in Ref. 4; BAB20436).				Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1612C>A	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237373	0.39498	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.42513	0.97;0.97	5.74	4.84	0.62591	.	0.070583	0.64402	D	0.000013	T	0.37999	0.1024	M	0.64567	1.98	0.34088	D	0.660352	B;B	0.19706	0.004;0.038	B;B	0.15052	0.012;0.01	T	0.43410	-0.9393	10	0.23302	T	0.38	.	11.1769	0.48606	0.0745:0.1609:0.7645:0.0	.	510;538	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	538;510	ENSP00000365576:P538T;ENSP00000257468:P510T	ENSP00000257468:P510T	P	-	1	0	UBQLN1	85468615	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.761000	0.47589	2.695000	0.91970	0.655000	0.94253	CCT		0.413	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		61	272	1	0	1.53716e-24	1	1.75837e-24	61	272					T	86278795	G	T	86278795	3	4	79	1	0	0	0	0	1	0	0	0	16950	1174	41	3	165	3	UBQLN1	9	86278795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415736	86278795	54934636	10125	20442											
UBQLN1	29979	broad.mit.edu	37	chr9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatgctttctaggttgCtcaaagctcggtcctggttc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	260					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(778-780)aGc>aTc		ubiquilin 1							345	351	349					9																	86293447		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293447C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.779G>T	9.37:g.86293447C>A	ENSP00000365576:p.Ser260Ile					UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1302	-			260					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.779G>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235092	0.95207	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80738	-1.41;-1.41;-1.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	D	0.90439	0.4430	10	0.62326	D	0.03	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	260;260	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	I	260;260;57	ENSP00000365576:S260I;ENSP00000257468:S260I;ENSP00000434194:S57I	ENSP00000257468:S260I	S	-	2	0	UBQLN1	85483267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.680000	0.91292	0.655000	0.94253	AGC		0.443	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		342	1617	1	0	4.77687e-79	1	6.1043e-79	342	1617					A	86293447	C	A	86293447	3	1	79	1	0	0	0	0	1	0	0	0	16950	797	28	3	1018	3	UBQLN1	9	86293447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14652	86293447	54919984	10126	20443											
UBQLN1	29979	broad.mit.edu	37	chr9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggtcctggttcctcatcatCtcctgcatcattgctggatt	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	250					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(748-750)gaG>gaT		ubiquilin 1							346	357	354					9																	86293476		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293476C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.750G>T	9.37:g.86293476C>A	ENSP00000365576:p.Glu250Asp					UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1273	-			250					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.750G>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339463	0.81911	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80653	1.03;1.03;-1.4	5.71	3.31	0.37934	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.90977	3.165	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.88817	0.3296	10	0.72032	D	0.01	.	8.5668	0.33545	0.0:0.2121:0.0:0.7879	.	250;250	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	250;250;47	ENSP00000365576:E250D;ENSP00000257468:E250D;ENSP00000434194:E47D	ENSP00000257468:E250D	E	-	3	2	UBQLN1	85483296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.632000	0.37102	0.414000	0.25790	-0.238000	0.12139	GAG		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		317	1659	1	0	6.28038e-61	1	7.90407e-61	317	1659					A	86293476	C	A	86293476	3	1	79	1	0	0	0	0	1	0	0	0	16950	912	32	3	1047	3	UBQLN1	9	86293476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	86293476	54919955	10127	20444											
KIF27	55582	broad.mit.edu	37	chr9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttttcgtttagtctgAcagtatcttttaggtcaacc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000413982.1_Missense_Mutation_p.V429A|KIF27_ENST00000334204.2_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	429					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1285-1287)gTc>gCc		kinesin family member 27							183	164	170					9																	86518147		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518147A>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1286T>C	9.37:g.86518147A>G	ENSP00000297814:p.Val429Ala					KIF27_ENST00000334204.2_Missense_Mutation_p.V429A|KIF27_ENST00000413982.1_Missense_Mutation_p.V429A	p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1429	-			429					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1286T>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	1.074	-0.669059	0.03403	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.68903	-0.36;-0.35;-0.22	5.37	3.04	0.35103	.	0.258741	0.26863	N	0.022107	T	0.50103	0.1596	L	0.46157	1.445	0.20821	N	0.999842	B;B;B	0.25850	0.049;0.136;0.132	B;B;B	0.22152	0.018;0.038;0.021	T	0.32481	-0.9905	10	0.06625	T	0.88	.	7.501	0.27518	0.696:0.0:0.304:0.0	.	429;429;429	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	429	ENSP00000297814:V429A;ENSP00000401688:V429A;ENSP00000333928:V429A	ENSP00000297814:V429A	V	-	2	0	KIF27	85707967	0.944000	0.32072	0.924000	0.36721	0.842000	0.47809	3.340000	0.52143	0.883000	0.36040	0.533000	0.62120	GTC		0.468	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		62	319	0	0	0	1	0	62	319					G	86518147	A	G	86518147	3	3	79	1	0	0	0	0	1	0	0	0	8326	275	10	4	2979	4	KIF27	9	86518147	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	224671	86518147	54695284	10128	20445											
KIF27	55582	broad.mit.edu	37	chr9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtgggtccccaagagCgcttattacatttcctaaag	9	12	0	1	rs372449530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000413982.1_Missense_Mutation_p.A280T|KIF27_ENST00000334204.2_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(838-840)Gct>Act		kinesin family member 27		C	THR/ALA	0,4406		0,0,2203	78	82	81		838	4.8	1	9		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/1402	86518595	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518595C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.838G>A	9.37:g.86518595C>T	ENSP00000297814:p.Ala280Thr					KIF27_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_Missense_Mutation_p.A280T	p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	981	-			280					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.838G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471658	0.84533	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000025	D	0.89750	0.6805	M	0.92077	3.27	0.52501	D	0.999955	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.68483	0.914;0.958;0.948	D	0.91639	0.5325	10	0.72032	D	0.01	.	14.0295	0.64606	0.0:0.9279:0.0:0.0721	.	280;280;280	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	280	ENSP00000297814:A280T;ENSP00000401688:A280T;ENSP00000333928:A280T	ENSP00000297814:A280T	A	-	1	0	KIF27	85708415	1.000000	0.71417	0.975000	0.42487	0.856000	0.48823	6.081000	0.71309	2.657000	0.90304	0.655000	0.94253	GCT		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		75	351	0	0	0	1	0	75	351					T	86518595	C	T	86518595	3	4	79	1	0	0	0	0	1	0	0	0	8326	768	27	1	3427	1	KIF27	9	86518595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	448	86518595	54694836	10129	20446											
KIF27	55582	broad.mit.edu	37	chr9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtaaaaattgcatgtgatCtgctggagtgctcattcatt	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000413982.1_Missense_Mutation_p.R206K|KIF27_ENST00000334204.2_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	206	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(616-618)aGa>aAa		kinesin family member 27							208	203	205					9																	86518816		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518816C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.617G>A	9.37:g.86518816C>T	ENSP00000297814:p.Arg206Lys					KIF27_ENST00000334204.2_Missense_Mutation_p.R206K|KIF27_ENST00000413982.1_Missense_Mutation_p.R206K	p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	760	-			206			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.617G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796143	0.90453	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.86432	-2.12;-2.12;-2.12	5.57	4.62	0.57501	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000024	D	0.96870	0.8978	H	0.99887	4.895	0.45899	D	0.998744	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.962;0.982;0.98	D	0.98374	1.0555	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.8647:0.1353:0.0	.	206;206;206	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	206	ENSP00000297814:R206K;ENSP00000401688:R206K;ENSP00000333928:R206K	ENSP00000297814:R206K	R	-	2	0	KIF27	85708636	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.041000	0.70988	2.610000	0.88304	0.591000	0.81541	AGA		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		135	900	0	0	0	1	0	135	900					T	86518816	C	T	86518816	3	4	79	1	0	0	0	0	1	0	0	0	8326	913	32	2	3648	2	KIF27	9	86518816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	86518816	54694615	10130	20447											
KIF27	55582	broad.mit.edu	37	chr9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttacattaaagtcaatgCtaggatgttcagagatgctt	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000413982.1_Missense_Mutation_p.S126N|KIF27_ENST00000334204.2_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGTCAATGCTAGGATGTTC	0.363																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(376-378)aGc>aAc		kinesin family member 27							129	143	138					9																	86523489		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86523489C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.377G>A	9.37:g.86523489C>T	ENSP00000297814:p.Ser126Asn					KIF27_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_Missense_Mutation_p.S126N	p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			3	520	-			126			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.377G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188885	0.06299	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72051	-0.62;-0.62;-0.62	5.27	-0.74	0.11115	Kinesin, motor domain (4);	0.413402	0.22375	N	0.060891	T	0.40448	0.1117	N	0.04768	-0.165	0.25894	N	0.98343	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.31833	-0.9929	10	0.06494	T	0.89	.	10.3921	0.44179	0.0:0.2838:0.0:0.7162	.	126;126;126	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	126	ENSP00000297814:S126N;ENSP00000401688:S126N;ENSP00000333928:S126N	ENSP00000297814:S126N	S	-	2	0	KIF27	85713309	0.003000	0.15002	0.977000	0.42913	0.982000	0.71751	0.554000	0.23407	-0.086000	0.12550	0.491000	0.48974	AGC		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	767	0	0	0	1	0	22	767					T	86523489	C	T	86523489	3	4	79	1	0	0	0	0	1	0	0	0	8326	797	28	2	3892	2	KIF27	9	86523489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4673	86523489	54689942	10131	20448											
C9orf64	84267	broad.mit.edu	37	chr9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagccatctccttttccttCcaatacactccacgtatctg	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398																																						ENST00000376344.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(661-663)Gaa>Aaa		chromosome 9 open reading frame 64							115	95	102					9																	86559841		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86559841C>T	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.661G>A	9.37:g.86559841C>T	ENSP00000365522:p.Glu221Lys					C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	p.E221K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN			3	877	-			221					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.661G>A	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.24	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.31371	0.925	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.14476	-1.0471	9	0.10902	T	0.67	-13.5167	11.5734	0.50848	0.0:0.8551:0.0:0.1449	.	221	Q5T6V5	CI064_HUMAN	K	221;80	.	ENSP00000318375:E80K	E	-	1	0	C9orf64	85749661	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	7.677000	0.84024	0.715000	0.32103	0.655000	0.94253	GAA		0.398	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		48	248	0	0	0	1	0	48	248					T	86559841	C	T	86559841	3	4	79	1	0	0	0	0	1	0	0	0	2496	864	30	2	372	2	C9orf64	9	86559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36352	86559841	54653590	10132	20449											
HNRNPK	3190	broad.mit.edu	37	chr9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggatccttctaaaggCtcatcaattttgatcgaagc	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376264.2	-	16	1533	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E425D|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	425	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(1273-1275)gaG>gaC		heterogeneous nuclear ribonucleoprotein K							94	89	91					9																	86585163		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	g.chr9:86585163C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1275G>C	9.37:g.86585163C>G	ENSP00000365440:p.Glu425Asp					HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E425D	p.E425D	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			16	1498	-			425			KH 3.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.1275G>C	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783871	0.49891	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.33	-2.79	0.05841	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12853	0.265	0.50632	D	0.999883	D;B;D;D;D;D;D;D	0.76494	0.998;0.166;0.999;0.999;0.999;0.997;0.998;0.999	D;P;D;D;D;D;D;D	0.85130	0.994;0.519;0.996;0.996;0.995;0.99;0.996;0.997	T	0.02251	-1.1188	10	0.38643	T	0.18	-5.7936	13.4098	0.60935	0.0:0.4477:0.0:0.5523	.	401;390;425;420;425;401;425;425	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	425;425;425;425;425;390;425;420	ENSP00000365458:E425D;ENSP00000365440:E425D;ENSP00000365439:E425D;ENSP00000317788:E425D;ENSP00000353552:E425D	ENSP00000317788:E425D	E	-	3	2	HNRNPK	85774983	0.469000	0.25846	0.981000	0.43875	0.996000	0.88848	-0.281000	0.08456	-0.480000	0.06803	0.591000	0.81541	GAG		0.408	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			50	273	0	0	0	1	0	50	273					G	86585163	C	G	86585163	3	3	79	1	0	0	0	0	1	0	0	0	7299	796	28	5	162	5	HNRNPK	9	86585163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25322	86585163	54628268	10133	20450											
HNRNPK	3190	broad.mit.edu	37	chr9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacttacccccctctaGgtggtggtggtggaggaaga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376264.2	-	11	1202	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P315H|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Poly-Pro.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(943-945)cCt>cAt		heterogeneous nuclear ribonucleoprotein K							41	50	47					9																	86586806		2196	4290	6486	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding	g.chr9:86586806G>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.944C>A	9.37:g.86586806G>T	ENSP00000365440:p.Pro315His					HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P315H	p.P315H	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			11	1167	-			315			2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.944C>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492840	0.44352	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.50813	0.73;0.77;0.73;0.77;0.77	5.31	5.31	0.75309	.	0.301034	0.36555	N	0.002539	T	0.56572	0.1994	L	0.34521	1.04	0.47698	D	0.999494	D;D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.947;1.0;1.0;0.911	D;D;D;D;P;D;D;B	0.91635	0.997;0.997;0.998;0.999;0.584;0.999;0.999;0.379	T	0.44682	-0.9312	10	0.13470	T	0.59	-4.0566	17.5267	0.87802	0.0:0.0:1.0:0.0	.	291;280;315;310;315;291;315;315	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	315;315;315;315;315;280;315;310;291;246	ENSP00000365458:P315H;ENSP00000365440:P315H;ENSP00000365439:P315H;ENSP00000317788:P315H;ENSP00000353552:P315H	ENSP00000317788:P315H	P	-	2	0	HNRNPK	85776626	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.068000	0.71201	2.636000	0.89361	0.655000	0.94253	CCT		0.527	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			93	413	1	0	4.21773e-46	1	5.1785e-46	93	413					T	86586806	G	T	86586806	3	4	79	1	0	0	0	0	1	0	0	0	7299	1000	35	3	513	3	HNRNPK	9	86586806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1643	86586806	54626625	10134	20451											
SLC28A3	64078	broad.mit.edu	37	chr9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggaagcccacgttgCtgtagccctcagctctgggg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	15					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCCCACGTTGCTGTAGCCCTC	0.532																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(43-45)aGc>aTc		solute carrier family 28 (concentrative nucleoside transporter), member 3							150	130	137					9																	86955505		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86955505C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.44G>T	9.37:g.86955505C>A	ENSP00000365413:p.Ser15Ile					SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	p.S15I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			1	93	-			15					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.44G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880787	0.17467	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	4.44	-0.595	0.11660	.	1.122910	0.06607	N	0.754892	T	0.01870	0.0059	L	0.36672	1.1	0.25130	N	0.990578	B	0.23128	0.08	B	0.24701	0.055	T	0.48080	-0.9066	10	0.45353	T	0.12	-0.0182	3.624	0.08107	0.1677:0.4559:0.0:0.3764	.	15	Q9HAS3	S28A3_HUMAN	I	15	ENSP00000365413:S15I	ENSP00000365413:S15I	S	-	2	0	SLC28A3	86145325	0.282000	0.24268	0.056000	0.19401	0.013000	0.08279	0.177000	0.16801	-0.101000	0.12219	0.561000	0.74099	AGC		0.532	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		102	454	1	0	1.54263e-40	1	1.87112e-40	102	454					A	86955505	C	A	86955505	3	1	79	1	0	0	0	0	1	0	0	0	14583	797	28	3	2103	3	SLC28A3	9	86955505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368699	86955505	54257926	10135	20452											
NTRK2	4915	broad.mit.edu	37	chr9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttctcctggcatcgtgGcatttccgagattggagcct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000323115.4	+	1	513	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000304053.6_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	54	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGGCATCGTGGCATTTCCGAG	0.567										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(160-162)Gca>Aca		neurotrophic tyrosine kinase, receptor, type 2							109	91	97					9																	87285823		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87285823G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.160G>A	9.37:g.87285823G>A	ENSP00000314586:p.Ala54Thr	TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T	p.A54T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			2	643	+			54			LRRNT.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.160G>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271193	0.40194	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.01	4.12	0.48240	Leucine-rich repeat-containing N-terminal (2);	0.197986	0.42548	D	0.000681	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	P;P;P;P;P;P;P	0.51933	0.937;0.937;0.949;0.923;0.843;0.907;0.937	P;P;P;P;P;P;P	0.61070	0.814;0.814;0.883;0.755;0.487;0.566;0.814	D	0.93206	0.6596	10	0.12766	T	0.61	.	8.3645	0.32378	0.0817:0.0:0.7287:0.1895	.	54;54;54;54;54;100;54	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	T	54	ENSP00000365387:A54T;ENSP00000365386:A54T;ENSP00000379221:A54T;ENSP00000365381:A54T;ENSP00000306167:A54T;ENSP00000277120:A54T;ENSP00000314586:A54T;ENSP00000352906:A54T	ENSP00000277120:A54T	A	+	1	0	NTRK2	86475643	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.171000	0.50824	1.341000	0.45600	0.561000	0.74099	GCA		0.567	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			20	336	0	0	0	1	0	20	336					A	87285823	G	A	87285823	3	1	79	1	0	0	0	0	1	0	0	0	10749	1203	42	2	162	2	NTRK2	9	87285823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330318	87285823	53927608	10136	20453											
NTRK2	4915	broad.mit.edu	37	chr9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgttccataggtttgCcatctgcaaatctggccgca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000323115.4	+	6	942	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000304053.6_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	197	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CATAGGTTTGCCATCTGCAAA	0.373										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(589-591)Cca>Tca		neurotrophic tyrosine kinase, receptor, type 2							156	134	141					9																	87338493		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338493C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.589C>T	9.37:g.87338493C>T	ENSP00000314586:p.Pro197Ser	TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S	p.P197S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			7	1072	+			197			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.589C>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273442	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;T;T;T;D;D;T;T	0.82081	-1.57;-1.52;-1.32;-1.36;-1.29;-1.57;-1.52;-1.32;-1.24	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96360	0.9265	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	41;197;197;197;197;197;243;197	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	197;197;197;197;197;197;197;197;41	ENSP00000365387:P197S;ENSP00000365386:P197S;ENSP00000379221:P197S;ENSP00000365381:P197S;ENSP00000306167:P197S;ENSP00000277120:P197S;ENSP00000314586:P197S;ENSP00000352906:P197S;ENSP00000379207:P41S	ENSP00000277120:P197S	P	+	1	0	NTRK2	86528313	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.070000	0.64376	2.807000	0.96579	0.591000	0.81541	CCA		0.373	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			39	349	0	0	0	1	0	39	349					T	87338493	C	T	87338493	3	4	79	1	0	0	0	0	1	0	0	0	10749	739	26	2	611	2	NTRK2	9	87338493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52670	87338493	53874938	10137	20454											
NTRK2	4915	broad.mit.edu	37	chr9	87339252	87339252	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaagatcaagattcTgtcaacctcactgtgcattg	10	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000323115.4	+	7	1187	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000304053.6_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	278	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCAAGATTCTGTCAACCTCA	0.448										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(832-834)tcT>tcG		neurotrophic tyrosine kinase, receptor, type 2							233	221	225					9																	87339252		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339252T>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.834T>G	9.37:g.87339252T>G		TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000323115.4_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S	p.S278S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			8	1317	+			278			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.834T>G	CCDS35050.1																																																																																				0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			159	785	0	0	0	1	0	159	785					G	87339252	T	G	87339252	2	3	79	1	0	0	0	0	0	0	0	1	10749	1567	55	4		4	NTRK2	9	87339252	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759	87339252	53874179	10138	20455											
NTRK2	4915	broad.mit.edu	37	chr9	87482309	87482309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgaaaatccccagtaCtttggcatcaccaacagtca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000323115.4	+	12	1901	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	NTRK2_ENST00000304053.6_Silent_p.Y532Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	516		Interaction with SHC1. {ECO:0000250}.			activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCCCCAGTACTTTGGCATCA	0.448										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(1594-1596)taC>taT		neurotrophic tyrosine kinase, receptor, type 2							213	180	191					9																	87482309		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87482309C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1548C>T	9.37:g.87482309C>T		TSP Lung(25;0.17)				NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000323115.4_Silent_p.Y516Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y	p.Y532Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			14	2079	+			516					B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.1596C>T	CCDS35050.1																																																																																				0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			119	664	0	0	0	1	0	119	664					T	87482309	C	T	87482309	2	4	79	1	0	0	0	0	0	0	0	1	10749	576	20	2		2	NTRK2	9	87482309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143057	87482309	53731122	10139	20456											
AGTPBP1	23287	broad.mit.edu	37	chr9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccaatgattttaaacaTcagttccacaactccatttt	4	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	205					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(613-615)Atg>Ctg		ATP/GTP binding protein 1							101	95	97					9																	88284449		2203	4298	6501	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88284449T>G	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.613A>C	9.37:g.88284449T>G	ENSP00000349592:p.Met205Leu					AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L	p.M205L			Q9UPW5	CBPC1_HUMAN			8	757	-			205					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.613A>C		.	.	.	.	.	.	.	.	.	.	T	4.883	0.164042	0.09287	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.26957	1.7;1.7;2.17;2.17;1.99;1.7;1.7	5.76	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.313564	0.42964	N	0.000628	T	0.07143	0.0181	N	0.03154	-0.405	0.34644	D	0.720952	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45338	-0.9268	10	0.02654	T	1	-6.8687	7.3001	0.26415	0.3228:0.0:0.3568:0.3204	.	257;205;43;205	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	147;205;205;257;43;205;147	ENSP00000338512:M147L;ENSP00000349592:M205L;ENSP00000365251:M205L;ENSP00000365277:M257L;ENSP00000402804:M43L;ENSP00000365249:M205L;ENSP00000365248:M147L	ENSP00000338512:M147L	M	-	1	0	AGTPBP1	87474269	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	1.346000	0.33964	-0.165000	0.10908	0.533000	0.62120	ATG		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		51	230	0	0	0	1	0	51	230					G	88284449	T	G	88284449	3	3	79	1	0	0	0	0	1	0	0	0	400	1435	50	4	3023	4	AGTPBP1	9	88284449	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	802140	88284449	52928982	10140	20457											
AGTPBP1	23287	broad.mit.edu	37	chr9	88292495	88292495	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaactcactcttcgacctcCacctaaaaattaaaaaaaaa	2	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88292495C>A	ENST00000357081.3	-	6	436	c.292G>T	c.(292-294)Gga>Tga	p.G98*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	98					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCGACCTCCACCtaaaaat	0.299																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(292-294)Gga>Tga		ATP/GTP binding protein 1							67	67	67					9																	88292495		2203	4300	6503	SO:0001587	stop_gained	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88292495C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.292G>T	9.37:g.88292495C>A	ENSP00000349592:p.Gly98*					AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*	p.G98*			Q9UPW5	CBPC1_HUMAN			6	436	-			98					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37	c.292G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.141000	0.94560	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	.	.	.	5.63	5.63	0.86233	.	0.147635	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.8019	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	40;98;98;150;98;40	.	ENSP00000338512:G40X	G	-	1	0	AGTPBP1	87482315	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.259000	0.65485	2.798000	0.96311	0.655000	0.94253	GGA		0.299	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		24	330	1	0	2.52088e-20	1	2.82337e-20	24	330					A	88292495	C	A	88292495	4	1	79	1	0	0	0	0	0	1	0	0	400	603	21	3	3352	3	AGTPBP1	9	88292495	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8046	88292495	52920936	10141	20458											
ZCCHC6	79670	broad.mit.edu	37	chr9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgttatctaaagtgGcaagtccctcacactcttta	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000375963.3	-	13	2583	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A93V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	804					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATCTAAAGTGGCAAGTCCCTC	0.453																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(277-279)gCc>gTc		zinc finger, CCHC domain containing 6							150	141	144					9																	88938254		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938254G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2411C>T	9.37:g.88938254G>A	ENSP00000365130:p.Ala804Val					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V	p.A93V			Q5VYS8	TUT7_HUMAN			14	2702	-			804					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.278C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229520	0.22542	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.99;0.98;0.98	5.29	2.23	0.28157	.	1.199960	0.05745	N	0.602137	T	0.36880	0.0983	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.30854	T	0.27	-4.5993	4.6312	0.12502	0.4745:0.2327:0.2929:0.0	.	681;804	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	93;681;804;804	ENSP00000277141:A93V;ENSP00000365127:A681V;ENSP00000365128:A804V;ENSP00000365130:A804V	ENSP00000277141:A93V	A	-	2	0	ZCCHC6	88128074	0.219000	0.23619	0.002000	0.10522	0.252000	0.25951	0.778000	0.26732	0.324000	0.23333	0.585000	0.79938	GCC		0.453	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		130	577	0	0	0	1	0	130	577					A	88938254	G	A	88938254	3	1	79	1	0	0	0	0	1	0	0	0	17645	1203	42	2	2136	2	ZCCHC6	9	88938254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	645759	88938254	52275177	10142	20459											
ZCCHC6	79670	broad.mit.edu	37	chr9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtttacatccgaatttttGaaacccaatctgctacagga	6	9	1	1	rs199887046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375963.3	-	6	1216	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375948.1_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	348					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCGAATTTTTGAAACCCAATC	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13964	0.0		0.0	False		,,,				2504	0.0					ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1042-1044)ttC>ttG		zinc finger, CCHC domain containing 6							80	83	82					9																	88958032		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88958032G>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1044C>G	9.37:g.88958032G>C	ENSP00000365130:p.Phe348Leu					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000277141.6_5'UTR	p.F348L			Q5VYS8	TUT7_HUMAN			6	1258	-			348					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1044C>G	CCDS35057.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.31	2.495913	0.44352	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81659	-1.52;-1.52;-1.52	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	L	0.49640	1.575	0.41057	D	0.98534	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.994	T	0.79553	-0.1756	10	0.19147	T	0.46	-15.6626	10.941	0.47273	0.1505:0.0:0.8495:0.0	.	348;348;348;348	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	348	ENSP00000365127:F348L;ENSP00000365128:F348L;ENSP00000365130:F348L	ENSP00000365127:F348L	F	-	3	2	ZCCHC6	88147852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	0.720000	0.32209	0.650000	0.86243	TTC		0.308	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		44	299	0	0	0	1	0	44	299					C	88958032	G	C	88958032	3	2	79	1	0	0	0	0	1	0	0	0	17645	1281	45	5	3531	5	ZCCHC6	9	88958032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19778	88958032	52255399	10143	20460											
DAPK1	1612	broad.mit.edu	37	chr9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggactaagtccagccggCggggtgtgagccgcgaggac	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000408954.3	+	3	495	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTCCAGCCGGCGGGGTGTGAG	0.557									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(160-162)Cgg>Tgg		death-associated protein kinase 1							52	55	53					9																	90219966		2180	4292	6472	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219966C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.160C>T	9.37:g.90219966C>T	ENSP00000386135:p.Arg54Trp					DAPK1_ENST00000408954.3_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W	p.R54W			P53355	DAPK1_HUMAN			3	535	+			54			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.160C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807760	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.04	4.13	0.48395	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	0.44902	D	0.000408	T	0.78848	0.4348	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81306	-0.0992	10	0.87932	D	0	.	13.9289	0.63981	0.1532:0.8468:0.0:0.0	.	54;54;54	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	W	54	ENSP00000350785:R54W;ENSP00000417076:R54W;ENSP00000418885:R54W;ENSP00000386135:R54W;ENSP00000419026:R54W	ENSP00000350785:R54W	R	+	1	2	DAPK1	89409786	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	1.332000	0.45431	0.511000	0.50034	CGG		0.557	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		52	249	0	0	0	1	0	52	249					T	90219966	C	T	90219966	3	4	79	1	0	0	0	0	1	0	0	0	4246	759	27	1	166	1	DAPK1	9	90219966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261934	90219966	50993465	10144	20461											
DAPK1	1612	broad.mit.edu	37	chr9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaaaaaagcaatccgttCgcttgatatcactgtgccaa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000408954.3	+	11	1263	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(928-930)Cgc>Tgc		death-associated protein kinase 1							65	59	61					9																	90258300		1854	4096	5950	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90258300C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.928C>T	9.37:g.90258300C>T	ENSP00000386135:p.Arg310Cys					DAPK1_ENST00000408954.3_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C	p.R310C			P53355	DAPK1_HUMAN			11	1303	+			310			Calmodulin-binding.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.928C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173017	0.94807	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.31;-0.32;-0.29	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000072	T	0.76040	0.3932	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.64595	0.927;0.879;0.595	T	0.77747	-0.2472	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	310;310;310	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	310	ENSP00000350785:R310C;ENSP00000417076:R310C;ENSP00000418885:R310C;ENSP00000386135:R310C;ENSP00000419026:R310C	ENSP00000350785:R310C	R	+	1	0	DAPK1	89448120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.716000	0.92895	0.655000	0.94253	CGC		0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		20	116	0	0	0	1	0	20	116					T	90258300	C	T	90258300	3	4	79	1	0	0	0	0	1	0	0	0	4246	884	31	1	966	1	DAPK1	9	90258300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38334	90258300	50955131	10145	20462											
C9orf79	286234	broad.mit.edu	37	chr9	90499930	90499930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctaaggcccaccagccGcatgggaaatgcatgcaaga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90499930G>A	ENST00000325643.5	+	4	594	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCACCAGCCGCATGGGAAAT	0.637																																						ENST00000325643.5																			0											c.(526-528)ccG>ccA		SPATA31 subfamily E, member 1							66	69	68					9																	90499930		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90499930G>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.528G>A	9.37:g.90499930G>A							p.P176P	NM_178828.4	NP_849150.3					4	594	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.528G>A	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		114	383	0	0	0	1	0	114	383					A	90499930	G	A	90499930	2	1	79	1	0	0	0	0	0	0	0	1	2504	1074	38	1		1	C9orf79	9	90499930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241630	90499930	50713501	10146	20463											
C9orf79	286234	broad.mit.edu	37	chr9	90502006	90502006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgaggctcaggccccGcccttcccacaatccacctt	8	18	2	1	rs551924151		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90502006G>A	ENST00000325643.5	+	4	2670	c.2604G>A	c.(2602-2604)ccG>ccA	p.P868P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	868					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAGGCCCCGCCCTTCCCAC	0.552													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.0					ENST00000325643.5																			0											c.(2602-2604)ccG>ccA		SPATA31 subfamily E, member 1							43	41	42					9																	90502006		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90502006G>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.2604G>A	9.37:g.90502006G>A							p.P868P	NM_178828.4	NP_849150.3					4	2670	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2604G>A	CCDS6676.1																																																																																				0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	146	0	0	0	1	0	29	146					A	90502006	G	A	90502006	2	1	79	1	0	0	0	0	0	0	0	1	2504	1074	38	1		1	C9orf79	9	90502006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2076	90502006	50711425	10147	20464											
FAM75C1	441452	broad.mit.edu	37	chr9	90535813	90535813	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttttccaggcccagCccctgtcccatctggggcct	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90535813C>T	ENST00000602681.1	+	0	1717							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGGCCCAGCCCCTGTCCCA	0.567																																						ENST00000602681.1																			0																				81	77	78					9																	90535813		692	1591	2283			0							g.chr9:90535813C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535813C>T														0	1717	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		21	925	0	0	0	1	0	21	925					T	90535813	C	T	90535813	1	4	79	0	1	0	0	0	0	0	0	0	5648	739	26	2		2	FAM75C1	9	90535813	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33807	90535813	50677618	10148	20465											
SPIN1	10927	broad.mit.edu	37	chr9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatccccagcgacatctcGaatcagcgatgcacacttgg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	122					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(364-366)cGa>cAa		spindlin 1							109	103	105					9																	91083296		2166	4279	6445	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91083296G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.365G>A	9.37:g.91083296G>A	ENSP00000365019:p.Arg122Gln					SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q|SPIN1_ENST00000469017.2_3'UTR	p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			5	643	+			122					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.365G>A	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769194	0.15983	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.39787	1.06;1.06	5.12	2.26	0.28386	.	0.241703	0.34411	N	0.003998	T	0.16811	0.0404	N	0.12920	0.275	0.58432	D	0.999997	D	0.55800	0.973	B	0.38683	0.279	T	0.32455	-0.9906	10	0.02654	T	1	-4.6556	7.4168	0.27048	0.1432:0.0:0.72:0.1368	.	122	Q9Y657	SPIN1_HUMAN	Q	122	ENSP00000365019:R122Q;ENSP00000441864:R122Q	ENSP00000365019:R122Q	R	+	2	0	SPIN1	90273116	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.326000	0.79133	0.318000	0.23185	-0.136000	0.14681	CGA		0.413	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		36	178	0	0	0	1	0	36	178					A	91083296	G	A	91083296	3	1	79	1	0	0	0	0	1	0	0	0	15104	1058	37	1	379	1	SPIN1	9	91083296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	547483	91083296	50130135	10149	20466											
SECISBP2	79048	broad.mit.edu	37	chr9	91964707	91964707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccagaggggatggaCgaactgatctccactccttc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000339901.4_Silent_p.D512D|SECISBP2_ENST00000534113.2_Silent_p.D517D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1753-1755)gaC>gaT		SECIS binding protein 2							135	114	121					9																	91964707		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91964707C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1755C>T	9.37:g.91964707C>T						SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	p.D585D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			13	1826	+			585					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1755C>T	CCDS6683.1																																																																																				0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		53	350	0	0	0	1	0	53	350					T	91964707	C	T	91964707	2	4	79	1	0	0	0	0	0	0	0	1	14056	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881411	91964707	49248724	10150	20467											
SECISBP2	79048	broad.mit.edu	37	chr9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccgcaaagctctggggCgcagtttgaataaggcagtt	12	9	2	1	rs554473793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20805	0.0		0.0	False		,,,				2504	0.0					ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2206-2208)Cgc>Tgc		SECIS binding protein 2							200	187	191					9																	91972418		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972418C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	9.37:g.91972418C>T	ENSP00000364965:p.Arg736Cys					SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	p.R736C	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			15	2277	+			736					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2206C>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC		0.527	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		189	764	0	0	0	1	0	189	764					T	91972418	C	T	91972418	3	4	79	1	0	0	0	0	1	0	0	0	14056	768	27	1	2264	1	SECISBP2	9	91972418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7711	91972418	49241013	10151	20468											
SEMA4D	10507	broad.mit.edu	37	chr9	91996226	91996226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcggggcctggaccacGcccgagttagagccagcata	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	ENST00000450295.1	-	14	2258	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	494	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGACCACGCCCGAGTTAG	0.637																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1480-1482)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							36	35	35					9																	91996226		2183	4275	6458	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91996226G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1482C>T	9.37:g.91996226G>A						SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G	p.G494G			Q92854	SEM4D_HUMAN			14	2258	-			494			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1482C>T	CCDS6685.1																																																																																				0.637	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		11	61	0	0	0	1	0	11	61					A	91996226	G	A	91996226	2	1	79	1	0	0	0	0	0	0	0	1	14084	1074	38	1		1	SEMA4D	9	91996226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23808	91996226	49217205	10152	20469											
DIRAS2	54769	broad.mit.edu	37	chr9	93375522	93375522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccttcacatgatcacGcacttgcctttgagcttctc	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(586-588)tgC>tgT		DIRAS family, GTP-binding RAS-like 2							189	167	174					9																	93375522		2203	4300	6503	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375522G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.588C>T	9.37:g.93375522G>A							p.C196C	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	976	-			196					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.588C>T	CCDS6687.1																																																																																				0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			81	365	0	0	0	1	0	81	365					A	93375522	G	A	93375522	2	1	79	1	0	0	0	0	0	0	0	1	4547	1079	38	1		1	DIRAS2	9	93375522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1379296	93375522	47837909	10153	20470											
DIRAS2	54769	broad.mit.edu	37	chr9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtacaccaggatgaaggCgtgccctttggagatggaca	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	81					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(241-243)Gcc>Acc		DIRAS family, GTP-binding RAS-like 2							140	118	126					9																	93375869		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375869C>T	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.241G>A	9.37:g.93375869C>T	ENSP00000364919:p.Ala81Thr						p.A81T	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	629	-			81					B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	c.241G>A	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386281	0.95967	.	.	ENSG00000165023	ENST00000375765	T	0.78246	-1.16	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90788	0.4684	10	0.87932	D	0	.	17.9796	0.89137	0.0:1.0:0.0:0.0	.	81	Q96HU8	DIRA2_HUMAN	T	81	ENSP00000364919:A81T	ENSP00000364919:A81T	A	-	1	0	DIRAS2	92415689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.808000	0.96608	0.655000	0.94253	GCC		0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			59	653	0	0	0	1	0	59	653					T	93375869	C	T	93375869	3	4	79	1	0	0	0	0	1	0	0	0	4547	768	27	1	362	1	DIRAS2	9	93375869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	93375869	47837562	10154	20471											
SYK	6850	broad.mit.edu	37	chr9	93606405	93606405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaatggcacctacgcCatcgccggtggcaggaccca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	75	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACCTACGCCATCGCCGGTG	0.657			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(223-225)gcC>gcA		spleen tyrosine kinase							53	42	46					9																	93606405		2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606405C>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.225C>A	9.37:g.93606405C>A						SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	373	+			75			SH2 1.			Silent	SNP	ENST00000375754.4	37	c.225C>A	CCDS6688.1																																																																																				0.657	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			7	256	1	0	0.0477658	1	0.0478703	7	256					A	93606405	C	A	93606405	2	1	79	1	0	0	0	0	0	0	0	1	15490	581	21	3		3	SYK	9	93606405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230536	93606405	47607026	10155	20472											
SYK	6850	broad.mit.edu	37	chr9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacccatgccagccccGccgacctctgccactaccac	8	21	1	0	rs201455170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	86	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								g|||	2	0.000399361	0.0008	0.0014	5008	,	,		15260	0.0		0.0	False		,,,				2504	0.0					ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(256-258)Gcc>Acc		spleen tyrosine kinase							35	33	33					9																	93606436		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606436G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.256G>A	9.37:g.93606436G>A	ENSP00000364907:p.Ala86Thr					SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	404	+			86			SH2 1.			Missense_Mutation	SNP	ENST00000375754.4	37	c.256G>A	CCDS6688.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.34	3.808139	0.70797	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.79	4.79	0.61399	SH2 motif (4);	0.115291	0.64402	D	0.000014	D	0.87501	0.6193	N	0.16903	0.455	0.49130	D	0.999752	D;D;D	0.67145	0.992;0.993;0.996	P;P;P	0.56398	0.553;0.681;0.797	D	0.87018	0.2127	10	0.32370	T	0.25	.	18.0426	0.89323	0.0:0.0:1.0:0.0	.	86;86;86	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	T	86	ENSP00000364907:A86T;ENSP00000364904:A86T;ENSP00000364899:A86T;ENSP00000364898:A86T	ENSP00000364898:A86T	A	+	1	0	SYK	92646257	0.996000	0.38824	0.626000	0.29213	0.503000	0.33858	5.814000	0.69208	2.495000	0.84180	0.556000	0.70494	GCC		0.667	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			42	234	0	0	0	1	0	42	234					A	93606436	G	A	93606436	3	1	79	1	0	0	0	0	1	0	0	0	15490	1087	38	1	258	1	SYK	9	93606436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	93606436	47606995	10156	20473											
SYK	6850	broad.mit.edu	37	chr9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggagctttggagtgtTgatgtgggaagcattctcct	14	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1681-1683)tTg>tCg		spleen tyrosine kinase							156	150	152					9																	93650131		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650131T>C	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1682T>C	9.37:g.93650131T>C	ENSP00000364907:p.Leu561Ser					SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	p.L561S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			12	1830	+			561			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1682T>C	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774724	0.49786	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.78	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.76062	0.3935	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76913	-0.2783	10	0.72032	D	0.01	.	10.1934	0.43041	0.0:0.0784:0.0:0.9216	.	538;561	P43405-2;P43405	.;KSYK_HUMAN	S	561;538;538;561	ENSP00000364907:L561S;ENSP00000364904:L538S;ENSP00000364899:L538S;ENSP00000364898:L561S	ENSP00000364898:L561S	L	+	2	0	SYK	92689952	0.709000	0.27886	0.282000	0.24776	0.653000	0.38743	3.642000	0.54367	0.857000	0.35407	0.379000	0.24179	TTG		0.502	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			150	683	0	0	0	1	0	150	683					C	93650131	T	C	93650131	3	2	79	1	0	0	0	0	1	0	0	0	15490	1821	63	4	1724	4	SYK	9	93650131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43695	93650131	47563300	10157	20474											
AUH	549	broad.mit.edu	37	chr9	93978386	93978386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctaaccctgttactaaatcGacctgagaataaaaacataa	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	299					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338																																						ENST00000375731.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(895-897)gtC>gtT		AU RNA binding protein/enoyl-CoA hydratase							117	109	112					9																	93978386		2203	4300	6503	SO:0001819	synonymous_variant	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93978386G>A	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase"			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.897C>T	9.37:g.93978386G>A						AUH_ENST00000303617.5_Silent_p.V270V	p.V299V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN			9	920	-			299					B1ALV7|B1ALV8|Q8WUE4	Silent	SNP	ENST00000375731.4	37	c.897C>T	CCDS6689.1																																																																																				0.338	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			50	232	0	0	0	1	0	50	232					A	93978386	G	A	93978386	2	1	79	1	0	0	0	0	0	0	0	1	1220	1045	37	1		1	AUH	9	93978386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328255	93978386	47235045	10158	20475											
AUH	549	broad.mit.edu	37	chr9	93979605	93979605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactctcattgcaacaGgtccctaaaattcaaattaa	4	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	ENST00000375731.4	-	8	871	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_ENST00000303617.5_Missense_Mutation_p.P254H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	283					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CATTGCAACAGGTCCCTAAAA	0.343																																						ENST00000375731.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(847-849)cCt>cAt		AU RNA binding protein/enoyl-CoA hydratase							96	90	92					9																	93979605		2203	4300	6503	SO:0001583	missense	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93979605G>T	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase"			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.848C>A	9.37:g.93979605G>T	ENSP00000364883:p.Pro283His					AUH_ENST00000303617.5_Missense_Mutation_p.P254H	p.P283H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN			8	871	-			283					B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.848C>A	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436352	0.83885	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.80480	-1.38;-1.38	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.052276	0.85682	D	0.000000	D	0.93546	0.7940	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95237	0.8348	10	0.72032	D	0.01	.	18.9459	0.92622	0.0:0.0:1.0:0.0	.	254;283	Q13825-2;Q13825	.;AUHM_HUMAN	H	283;254	ENSP00000364883:P283H;ENSP00000307334:P254H	ENSP00000307334:P254H	P	-	2	0	AUH	93019426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.733000	0.91539	2.722000	0.93159	0.591000	0.81541	CCT		0.343	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			24	299	1	0	4.26978e-12	1	4.57227e-12	24	299					T	93979605	G	T	93979605	3	4	79	1	0	0	0	0	1	0	0	0	1220	1000	35	3	183	3	AUH	9	93979605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1219	93979605	47233826	10159	20476											
NFIL3	4783	broad.mit.edu	37	chr9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggagagtgtgagtacccaGagaaagaattccccatatag	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	253					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(757-759)tCt>tTt		nuclear factor, interleukin 3 regulated							124	128	126					9																	94172259		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172259G>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.758C>T	9.37:g.94172259G>A	ENSP00000297689:p.Ser253Phe						p.S253F	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1152	-			253					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.758C>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381410	0.24944	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	4.65	0.58169	Vertebrate interleukin-3 regulated transcription factor (1);	0.644741	0.14767	N	0.299652	T	0.37320	0.0999	L	0.47716	1.5	0.09310	N	1	P	0.42203	0.773	P	0.44518	0.452	T	0.13098	-1.0522	9	0.10636	T	0.68	-9.2061	9.8799	0.41227	0.0:0.139:0.6984:0.1626	.	253	Q16649	NFIL3_HUMAN	F	253	.	ENSP00000297689:S253F	S	-	2	0	NFIL3	93212080	0.794000	0.28838	0.005000	0.12908	0.093000	0.18481	4.517000	0.60503	2.429000	0.82318	0.561000	0.74099	TCT		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		112	452	0	0	0	1	0	112	452					A	94172259	G	A	94172259	3	1	79	1	0	0	0	0	1	0	0	0	10415	942	33	2	634	2	NFIL3	9	94172259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192654	94172259	47041172	10160	20477											
ROR2	4920	broad.mit.edu	37	chr9	94486406	94486406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggcggggccttctgCttgggccccacgtagcgggc	19	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	790	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2368-2370)aaG>aaA		receptor tyrosine kinase-like orphan receptor 2							51	56	54					9																	94486406		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486406C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2370G>A	9.37:g.94486406C>T						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.K790K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2568	-			790			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2370G>A	CCDS6691.1																																																																																				0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			87	441	0	0	0	1	0	87	441					T	94486406	C	T	94486406	2	4	79	1	0	0	0	0	0	0	0	1	13577	796	28	2		2	ROR2	9	94486406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314147	94486406	46727025	10161	20478											
ROR2	4920	broad.mit.edu	37	chr9	94486500	94486500	+	Missense_Mutation	SNP	G	G	A													tgctggcccccgaggtctgcGccgagctgttgtagttggaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486500G>A	ENST00000375708.3	-	9	2474	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	ROR2_ENST00000375715.1_Missense_Mutation_p.A619V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	759	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGGTCTGCGCCGAGCTGTT	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2275-2277)gCg>gTg		receptor tyrosine kinase-like orphan receptor 2							51	54	53					9																	94486500		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486500G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2276C>T	9.37:g.94486500G>A	ENSP00000364860:p.Ala759Val					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A619V	p.A759V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2474	-			759			Ser/Thr-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2276C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712035	0.30322	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78126	-1.11;-1.15	4.65	3.75	0.43078	.	0.000000	0.41823	D	0.000803	T	0.79718	0.4494	L	0.27053	0.805	0.45791	D	0.998677	D;P	0.89917	1.0;0.932	D;B	0.75484	0.986;0.186	T	0.76631	-0.2888	10	0.24483	T	0.36	.	15.0704	0.72030	0.0:0.142:0.858:0.0	.	759;619	Q01974;B1APY4	ROR2_HUMAN;.	V	619;759	ENSP00000364867:A619V;ENSP00000364860:A759V	ENSP00000364860:A759V	A	-	2	0	ROR2	93526321	0.954000	0.32549	0.971000	0.41717	0.674000	0.39518	3.769000	0.55303	1.173000	0.42796	0.561000	0.74099	GCG		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			67	375	0	0	0	1	0	67	375					A	94486500	G	A	94486500	3	1	79	1	0	0	0	0	1	0	0	0	13577	1087	38	1	559	1	ROR2	9	94486500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	94486500	46726931	10162	20479	127	2									
ROR2	4920	broad.mit.edu	37	chr9	94486503	94486503	+	Missense_Mutation	SNP	G	G	A													tggcccccgaggtctgcgccGagctgttgtagttggaaagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486503G>A	ENST00000375708.3	-	9	2471	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	ROR2_ENST00000375715.1_Missense_Mutation_p.S618L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	758	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTGCGCCGAGCTGTTGTA	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2272-2274)tCg>tTg		receptor tyrosine kinase-like orphan receptor 2							51	54	53					9																	94486503		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486503G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2273C>T	9.37:g.94486503G>A	ENSP00000364860:p.Ser758Leu					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S618L	p.S758L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2471	-			758			Ser/Thr-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2273C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291602	0.59976	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78364	-1.15;-1.17	4.65	4.65	0.58169	.	0.000000	0.36338	N	0.002656	T	0.70789	0.3264	L	0.35854	1.095	0.80722	D	1	D;D	0.58970	0.978;0.984	B;B	0.41440	0.357;0.248	T	0.75388	-0.3335	10	0.49607	T	0.09	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	758;618	Q01974;B1APY4	ROR2_HUMAN;.	L	618;758	ENSP00000364867:S618L;ENSP00000364860:S758L	ENSP00000364860:S758L	S	-	2	0	ROR2	93526324	1.000000	0.71417	0.983000	0.44433	0.653000	0.38743	9.548000	0.98103	2.415000	0.81967	0.561000	0.74099	TCG		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			66	373	0	0	0	1	0	66	373					A	94486503	G	A	94486503	3	1	79	1	0	0	0	0	1	0	0	0	13577	1059	37	1	562	1	ROR2	9	94486503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	94486503	46726928	10163	20480	127	2									
SPTLC1	10558	broad.mit.edu	37	chr9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccatagtgttcagtgactCctcggccatgctctcctagg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	288					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTCAGTGACTCCTCGGCCATG	0.388																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(862-864)gGa>gAa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						159	147	151					9																	94812267		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94812267C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.863G>A	9.37:g.94812267C>T	ENSP00000262554:p.Gly288Glu						p.G288E	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			9	868	-			288					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.863G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811721	0.90707	.	.	ENSG00000090054	ENST00000262554	D	0.96427	-4.01	4.66	4.66	0.58398	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056205	0.64402	D	0.000001	D	0.98927	0.9636	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.997;0.994	D	0.99425	1.0934	10	0.87932	D	0	-15.9455	17.7986	0.88579	0.0:1.0:0.0:0.0	.	288;288	Q6NUL7;O15269	.;SPTC1_HUMAN	E	288	ENSP00000262554:G288E	ENSP00000262554:G288E	G	-	2	0	SPTLC1	93852088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA		0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		101	467	0	0	0	1	0	101	467					T	94812267	C	T	94812267	3	4	79	1	0	0	0	0	1	0	0	0	15175	855	30	2	586	2	SPTLC1	9	94812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325764	94812267	46401164	10164	20481											
SPTLC1	10558	broad.mit.edu	37	chr9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctttagagatgctaaagCtgctgcctttattgaagtac	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	121					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GATGCTAAAGCTGCTGCCTTT	0.363																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(361-363)Gct>Act		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						78	76	76					9																	94842364		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94842364C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.361G>A	9.37:g.94842364C>T	ENSP00000262554:p.Ala121Thr					SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	p.A121T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			5	366	-			121					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.361G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032641	0.93575	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95554	-2.83;-3.74	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.995;0.997	D;D;D;D	0.77557	0.987;0.921;0.973;0.99	D	0.98626	1.0669	10	0.87932	D	0	-19.3186	19.0495	0.93038	0.0:1.0:0.0:0.0	.	121;121;116;121	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	121	ENSP00000262554:A121T;ENSP00000337635:A121T	ENSP00000262554:A121T	A	-	1	0	SPTLC1	93882185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GCT		0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		62	283	0	0	0	1	0	62	283					T	94842364	C	T	94842364	3	4	79	1	0	0	0	0	1	0	0	0	15175	797	28	2	1113	2	SPTLC1	9	94842364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30097	94842364	46371067	10165	20482											
IARS	3376	broad.mit.edu	37	chr9	95014113	95014113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtctgcaaagagaaagcaGaacactaaacaaggtttcta	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95014113G>T	ENST00000375643.3	-	22	2550	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	762					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGAAAGCAGAACACTAAAC	0.418																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2284-2286)Ctg>Atg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						162	140	147					9																	95014113		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95014113G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2284C>A	9.37:g.95014113G>T	ENSP00000364794:p.Leu762Met					IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Missense_Mutation_p.L762M	p.L762M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			22	2550	-			762					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2284C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009501	0.75046	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.20200	2.09;2.09;2.09	5.72	4.83	0.62350	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.59867	-0.7373	10	0.87932	D	0	-10.5957	11.8558	0.52437	0.1439:0.0:0.8561:0.0	.	762;607	P41252;Q6P0M4	SYIC_HUMAN;.	M	762;762;652;762	ENSP00000364794:L762M;ENSP00000406448:L762M;ENSP00000415020:L652M	ENSP00000364794:L762M	L	-	1	2	IARS	94053934	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	4.005000	0.57075	1.446000	0.47643	0.655000	0.94253	CTG		0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	313	1	0	5.18039e-06	1	5.32547e-06	7	313					T	95014113	G	T	95014113	3	4	79	1	0	0	0	0	1	0	0	0	7503	933	33	3	1556	3	IARS	9	95014113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171749	95014113	46199318	10166	20483											
IARS	3376	broad.mit.edu	37	chr9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaggacaggatccaccGgtctgtaatgttggggcttt	13	8	1	1	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	694					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2080-2082)Cgg>Tgg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						138	130	132					9																	95019019		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95019019G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2080C>T	9.37:g.95019019G>A	ENSP00000364794:p.Arg694Trp					IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R694W	p.R694W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			20	2346	-			694					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2080C>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109921	0.77210	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.19532	2.14;2.14;2.14	5.7	2.68	0.31781	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.213106	0.47093	D	0.000245	T	0.51160	0.1658	H	0.94423	3.535	0.80722	D	1	D;D	0.57257	0.979;0.977	D;P	0.64595	0.927;0.832	T	0.58470	-0.7631	10	0.87932	D	0	-8.1626	8.8918	0.35439	0.0739:0.0:0.5729:0.3532	.	694;539	P41252;Q6P0M4	SYIC_HUMAN;.	W	694;694;584;694	ENSP00000364794:R694W;ENSP00000406448:R694W;ENSP00000415020:R584W	ENSP00000364794:R694W	R	-	1	2	IARS	94058840	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	2.387000	0.44389	0.741000	0.32674	-0.314000	0.08810	CGG		0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		48	258	0	0	0	1	0	48	258					A	95019019	G	A	95019019	3	1	79	1	0	0	0	0	1	0	0	0	7503	1115	39	1	1768	1	IARS	9	95019019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	95019019	46194412	10167	20484											
IARS	3376	broad.mit.edu	37	chr9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagctgggcactgctttgTaaattagaggagtgtctgat	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	409					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1225-1227)tAc>tGc		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						120	105	110					9																	95032245		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95032245T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1226A>G	9.37:g.95032245T>C	ENSP00000364794:p.Tyr409Cys					IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C	p.Y409C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			13	1492	-			409					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1226A>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413486	0.83449	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.39229	1.09;1.09;1.09	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	10	0.87932	D	0	-14.5538	14.789	0.69824	0.0:0.0:0.0:1.0	.	409;254	P41252;Q6P0M4	SYIC_HUMAN;.	C	409;409;299;409	ENSP00000364794:Y409C;ENSP00000406448:Y409C;ENSP00000415020:Y299C	ENSP00000364794:Y409C	Y	-	2	0	IARS	94072066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.648000	0.83479	2.143000	0.66587	0.533000	0.62120	TAC		0.478	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		39	194	0	0	0	1	0	39	194					C	95032245	T	C	95032245	3	2	79	1	0	0	0	0	1	0	0	0	7503	1638	57	4	2650	4	IARS	9	95032245	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13226	95032245	46181186	10168	20485											
IARS	3376	broad.mit.edu	37	chr9	95043153	95043153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaagggaaagttacaAatactgaaggatcttgaaca	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375643.3	-	7	886	c.620T>G	c.(619-621)tTt>tGt	p.F207C	IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	207					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368																																						ENST00000375629.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35								isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						76	70	72					9																	95043153		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043153A>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.620T>G	9.37:g.95043153A>C	ENSP00000364794:p.Phe207Cys					IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000375643.3_Missense_Mutation_p.F207C|IARS_ENST00000443024.2_Missense_Mutation_p.F207C				P41252	SYIC_HUMAN			0	699	-								A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Translation_Start_Site	SNP	ENST00000375643.3	37		CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508576	0.85282	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.052475	0.64402	D	0.000001	D	0.87305	0.6144	M	0.85099	2.735	0.80722	D	1	P;P	0.52170	0.903;0.951	P;P	0.58520	0.796;0.84	D	0.89453	0.3731	10	0.87932	D	0	-22.2468	14.7139	0.69254	1.0:0.0:0.0:0.0	.	207;52	P41252;Q6P0M4	SYIC_HUMAN;.	C	207;207;97;207;207	ENSP00000364794:F207C;ENSP00000406448:F207C;ENSP00000415020:F97C;ENSP00000378922:F207C	ENSP00000364794:F207C	F	-	2	0	IARS	94082974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.169000	0.68431	0.533000	0.62120	TTT		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	176	0	0	0	1	0	7	176					C	95043153	A	C	95043153	3	2	79	1	0	0	0	0	1	0	0	0	7503	14	1	4	3280	4	IARS	9	95043153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10908	95043153	46170278	10169	20486											
NOL8	55035	broad.mit.edu	37	chr9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacataaaacatacttaaatTtcttagcagctactgatcct	3	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000535387.1	-	9	2704	c.2705A>C	c.(2704-2706)aAa>aCa	p.K902T	NOL8_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2818-2820)aAa>aCa		nucleolar protein 8							182	181	181					9																	95069174		1843	4098	5941	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95069174T>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2705A>C	9.37:g.95069174T>G	ENSP00000441300:p.Lys902Thr					NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000535387.1_Missense_Mutation_p.K902T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T	p.K940T			Q76FK4	NOL8_HUMAN			11	3311	-			940						Missense_Mutation	SNP	ENST00000535387.1	37	c.2819A>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896931	0.72639	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.55	5.55	0.83447	.	0.249376	0.44902	D	0.000408	T	0.37679	0.1012	L	0.54908	1.71	0.38998	D	0.959286	P;D	0.53312	0.879;0.959	B;P	0.47744	0.36;0.556	T	0.38415	-0.9662	10	0.72032	D	0.01	-25.1845	13.73	0.62781	0.0:0.0:0.0:1.0	.	872;940	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	940;904;872;940;902;872;940	ENSP00000401177:K940T;ENSP00000351723:K872T;ENSP00000441140:K940T;ENSP00000441300:K902T;ENSP00000440709:K872T;ENSP00000414112:K940T	ENSP00000351723:K872T	K	-	2	0	NOL8	94108995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.238000	0.73509	0.477000	0.44152	AAA		0.343	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		116	455	0	0	0	1	0	116	455					G	95069174	T	G	95069174	3	3	79	1	0	0	0	0	1	0	0	0	10569	1841	64	4	712	4	NOL8	9	95069174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26021	95069174	46144257	10170	20487											
NOL8	55035	broad.mit.edu	37	chr9	95073540	95073540	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttatcctctggatgaccaTcctagggaggccatcgaaag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	NOL8_ENST00000442668.2_Splice_Site_p.D787G|NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000535387.1_Intron					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.e8-1		nucleolar protein 8							98	86	90					9																	95073540		1949	4136	6085	SO:0001630	splice_region_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95073540T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000545558.1:c.2359-1A>G	9.37:g.95073540T>C						NOL8_ENST00000358855.4_Splice_Site_p.D719_splice|NOL8_ENST00000442668.2_Splice_Site_p.D787_splice|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000542053.1_Splice_Site_p.D719_splice	p.D787_splice			Q76FK4	NOL8_HUMAN			8	2852	-			787						Splice_Site	SNP	ENST00000545558.1	37	c.2358_splice	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343763	0.61073	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.52754	2.04;2.04;2.04;2.04;0.65	5.12	5.12	0.69794	.	0.099953	0.64402	D	0.000003	T	0.65678	0.2714	M	0.67953	2.075	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.965	T	0.69363	-0.5165	10	0.72032	D	0.01	-18.7307	13.577	0.61879	0.0:0.0:0.0:1.0	.	719;787	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	G	787;719;787;719;787	ENSP00000401177:D787G;ENSP00000351723:D719G;ENSP00000441140:D787G;ENSP00000440709:D719G;ENSP00000414112:D787G	ENSP00000351723:D719G	D	-	2	0	NOL8	94113361	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.488000	0.53229	1.941000	0.56285	0.524000	0.50904	GAT		0.438	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402684.1	NM_017948	Missense_Mutation	27	106	0	0	0	1	0	27	106					C	95073540	T	C	95073540	5	2	79	1	0	0	0	0	0	0	1	0	10569	1449	50	4	1183	4	NOL8	9	95073540	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4366	95073540	46139891	10171	20488											
NOL8	55035	broad.mit.edu	37	chr9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtaagttttcctctttcGcaatcatcattctcaattca	3	11	6	0	rs189619241	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000535387.1	-	6	937	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000358855.4_Missense_Mutation_p.A245V					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTCCTCTTTCGCAATCATCAT	0.368													G|||	7	0.00139776	0.0	0.0014	5008	,	,		20596	0.0		0.006	False		,,,				2504	0.0					ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(937-939)gCg>gTg		nucleolar protein 8		G	VAL/ALA	1,3715		0,1,1857	56	50	52		938	3.8	0.8	9		52	26,8162		0,26,4068	yes	missense	NOL8	NM_017948.5	64	0,27,5925	AA,AG,GG		0.3175,0.0269,0.2268	probably-damaging	313/1168	95077969	27,11877	1858	4094	5952	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077969G>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.938C>T	9.37:g.95077969G>A	ENSP00000441300:p.Ala313Val					NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000535387.1_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V	p.A313V			Q76FK4	NOL8_HUMAN			7	1430	-			313						Missense_Mutation	SNP	ENST00000535387.1	37	c.938C>T	CCDS47993.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	15.25	2.779031	0.49891	2.69E-4	0.003175	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.53640	2.18;2.2;2.18;2.4;2.2;1.91;0.61	5.68	3.77	0.43336	.	0.488728	0.22924	N	0.053997	T	0.32041	0.0816	L	0.38175	1.15	0.27918	N	0.938353	D	0.59767	0.986	P	0.45119	0.47	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.3451	10.2172	0.43175	0.0:0.1172:0.4945:0.3883	.	313	Q76FK4	NOL8_HUMAN	V	313;315;245;313;313;245;313;313	ENSP00000401177:A313V;ENSP00000351723:A245V;ENSP00000441140:A313V;ENSP00000441300:A313V;ENSP00000440709:A245V;ENSP00000414112:A313V;ENSP00000412471:A313V	ENSP00000351723:A245V	A	-	2	0	NOL8	94117790	0.272000	0.24172	0.824000	0.32777	0.633000	0.38033	0.922000	0.28734	0.688000	0.31529	0.650000	0.86243	GCG		0.368	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		13	85	0	0	0	1	0	13	85					A	95077969	G	A	95077969	3	1	79	1	0	0	0	0	1	0	0	0	10569	1087	38	1	2609	1	NOL8	9	95077969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4429	95077969	46135462	10172	20489											
NOL8	55035	broad.mit.edu	37	chr9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcttggcagtttccAagccagaagtcttaaaaggt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000535387.1	-	6	862	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(862-864)tTg>tCg		nucleolar protein 8							43	39	40					9																	95078044		1831	4094	5925	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078044A>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.863T>C	9.37:g.95078044A>G	ENSP00000441300:p.Leu288Ser					NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000535387.1_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S	p.L288S			Q76FK4	NOL8_HUMAN			7	1355	-			288						Missense_Mutation	SNP	ENST00000535387.1	37	c.863T>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178662	0.21787	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.52;2.52;2.52;2.74;2.52;2.26;0.92	5.57	3.22	0.36961	.	1.237480	0.05257	N	0.515005	T	0.26448	0.0646	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.21381	-1.0247	10	0.26408	T	0.33	-0.3825	4.0438	0.09763	0.492:0.2688:0.2392:0.0	.	288	Q76FK4	NOL8_HUMAN	S	288;290;220;288;288;220;288;288	ENSP00000401177:L288S;ENSP00000351723:L220S;ENSP00000441140:L288S;ENSP00000441300:L288S;ENSP00000440709:L220S;ENSP00000414112:L288S;ENSP00000412471:L288S	ENSP00000351723:L220S	L	-	2	0	NOL8	94117865	0.003000	0.15002	0.206000	0.23566	0.197000	0.23852	1.841000	0.39240	0.926000	0.37118	0.528000	0.53228	TTG		0.353	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		16	118	0	0	0	1	0	16	118					G	95078044	A	G	95078044	3	3	79	1	0	0	0	0	1	0	0	0	10569	131	5	4	2684	4	NOL8	9	95078044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	95078044	46135387	10173	20490											
ECM2	1842	broad.mit.edu	37	chr9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggtaggttctctttgttCtgaagaatcaccagaaaatt	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECM2_ENST00000444490.2_Splice_Site|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	183					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(547-549)Gaa>Taa		extracellular matrix protein 2, female organ and adipocyte specific							61	62	61					9																	95277420		2203	4300	6503	SO:0001587	stop_gained	1842				cell-matrix adhesion		integrin binding	g.chr9:95277420C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.547G>T	9.37:g.95277420C>A	ENSP00000344758:p.Glu183*					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Splice_Site	p.E183*	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	696	-			183					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Nonsense_Mutation	SNP	ENST00000344604.5	37	c.547G>T	CCDS6698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801349|3.801349	0.70567|0.70567	.|.	.|.	ENSG00000106823|ENSG00000106823	ENST00000444490|ENST00000344604	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.501876	.|0.22979	.|N	.|0.053335	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.46703	.|T	.|0.11	.|.	13.8795|13.8795	0.63674|0.63674	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|.	.|.	.|.	.|X	-1|183	.|.	.|ENSP00000344758:E183X	.|E	-|-	.|1	.|0	ECM2|ECM2	94317241|94317241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.029000|4.029000	0.57253|0.57253	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	.|GAA		0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		75	243	1	0	3.4779e-39	1	4.20191e-39	75	243					A	95277420	C	A	95277420	4	1	79	1	0	0	0	0	0	1	0	0	4914	922	32	3	1580	3	ECM2	9	95277420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199376	95277420	45936011	10174	20491											
ECM2	1842	broad.mit.edu	37	chr9	95284865	95284865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctcttacctggtaacAcattataacttgattctact	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95284865A>G	ENST00000344604.5	-	2	433	c.284T>C	c.(283-285)gTg>gCg	p.V95A	ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	95					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACCTGGTAACACATTATAACT	0.418																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(283-285)gTg>gCg		extracellular matrix protein 2, female organ and adipocyte specific							48	51	50					9																	95284865		2202	4300	6502	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95284865A>G	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.284T>C	9.37:g.95284865A>G	ENSP00000344758:p.Val95Ala					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A	p.V95A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			2	433	-			95					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.284T>C	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089048	0.76756	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.92	4.92	0.64577	.	0.140060	0.47455	D	0.000237	T	0.53883	0.1824	M	0.64997	1.995	0.49687	D	0.999812	D;D;D;D	0.69078	0.962;0.996;0.988;0.997	P;P;P;P	0.61800	0.53;0.787;0.696;0.894	T	0.58446	-0.7635	10	0.87932	D	0	.	14.7117	0.69238	1.0:0.0:0.0:0.0	.	95;95;95;95	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	A	95	ENSP00000393971:V95A;ENSP00000344758:V95A;ENSP00000364690:V95A;ENSP00000378905:V95A	ENSP00000344758:V95A	V	-	2	0	ECM2	94324686	0.987000	0.35691	0.988000	0.46212	0.983000	0.72400	5.813000	0.69201	2.214000	0.71695	0.528000	0.53228	GTG		0.418	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		14	147	0	0	0	1	0	14	147					G	95284865	A	G	95284865	3	3	79	1	0	0	0	0	1	0	0	0	4914	159	6	4	1851	4	ECM2	9	95284865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7445	95284865	45928566	10175	20492											
BICD2	23299	broad.mit.edu	37	chr9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagccaggcgaggggctgCtgtcccccgtcccaccatct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000375512.3	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000356884.6_Missense_Mutation_p.S605I	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	605					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1813-1815)aGc>aTc		bicaudal D homolog 2 (Drosophila)							26	24	25					9																	95481113		2196	4296	6492	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481113C>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1814G>T	9.37:g.95481113C>A	ENSP00000364662:p.Ser605Ile					BICD2_ENST00000375512.3_Missense_Mutation_p.S605I	p.S605I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1881	-			605					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1814G>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948065	0.34377	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.27	0.50696	.	0.256048	0.45606	D	0.000344	T	0.34774	0.0909	L	0.34521	1.04	0.26791	N	0.969393	P;P	0.45474	0.859;0.772	B;P	0.46629	0.387;0.522	T	0.12604	-1.0541	10	0.36615	T	0.2	-22.7187	7.5499	0.27790	0.0:0.8025:0.0:0.1975	.	605;605	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	I	605	ENSP00000349351:S605I;ENSP00000364662:S605I	ENSP00000349351:S605I	S	-	2	0	BICD2	94520934	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.114000	0.41911	1.307000	0.44944	0.561000	0.74099	AGC		0.677	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		42	146	1	0	1.49673e-21	1	1.68722e-21	42	146					A	95481113	C	A	95481113	3	1	79	1	0	0	0	0	1	0	0	0	1431	797	28	3	775	3	BICD2	9	95481113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196248	95481113	45732318	10176	20493											
ZNF484	83744	broad.mit.edu	37	chr9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattttctggtgtgtaaagaGatttgatctgtcagtaaaag	10	3	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000375495.3	-	5	2099	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	651					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1843-1845)Ctc>Atc		zinc finger protein 484							83	84	84					9																	95609118		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609118G>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1951C>A	9.37:g.95609118G>T	ENSP00000364645:p.Leu651Ile					ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.L651I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I	p.L615I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1935	-			651					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1843C>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107570	0.37145	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69922	0.3165	M	0.84846	2.72	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.999	T	0.55829	-0.8079	9	0.62326	D	0.03	.	5.0637	0.14570	0.1664:0.0:0.8336:0.0	.	653;651	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	615;653;651;615	ENSP00000378881:L615I;ENSP00000378882:L653I;ENSP00000364645:L651I;ENSP00000364646:L615I	ENSP00000364646:L615I	L	-	1	0	ZNF484	94648939	0.999000	0.42202	1.000000	0.80357	0.905000	0.53344	3.262000	0.51538	1.622000	0.50330	0.551000	0.68910	CTC		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		38	389	1	0	9.62906e-15	1	1.04819e-14	38	389					T	95609118	G	T	95609118	3	4	79	1	0	0	0	0	1	0	0	0	17990	942	33	3	611	3	ZNF484	9	95609118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128005	95609118	45604313	10177	20494											
ZNF484	83744	broad.mit.edu	37	chr9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcataaggagttttctgacGgtttgacttgagggaaaaat	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000375495.3	-	5	1100	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	318					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(844-846)Cgt>Tgt		zinc finger protein 484							100	95	97					9																	95610117		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610117G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.952C>T	9.37:g.95610117G>A	ENSP00000364645:p.Arg318Cys					ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R318C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C	p.R282C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	936	-			318					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.844C>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	6.193	0.403864	0.11754	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.44	1.53	0.23141	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.34452	0.183;0.118	T	0.34304	-0.9834	9	0.87932	D	0	.	8.5598	0.33503	0.0:0.0:0.7684:0.2316	.	320;318	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	282;320;318;282	ENSP00000378881:R282C;ENSP00000378882:R320C;ENSP00000364645:R318C;ENSP00000364646:R282C	ENSP00000364646:R282C	R	-	1	0	ZNF484	94649938	0.000000	0.05858	0.044000	0.18714	0.170000	0.22686	-0.166000	0.09954	0.585000	0.29608	-0.172000	0.13284	CGT		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		67	330	0	0	0	1	0	67	330					A	95610117	G	A	95610117	3	1	79	1	0	0	0	0	1	0	0	0	17990	1116	39	1	1610	1	ZNF484	9	95610117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	999	95610117	45603314	10178	20495											
NINJ1	4814	broad.mit.edu	37	chr9	95888858	95888858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcatgctctcggctgcGctcttcttgctggcgtaatg	11	13	3	0	rs538594312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	46					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCTCGGCTGCGCTCTTCTTGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15865	0.0		0.0	False		,,,				2504	0.001					ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(136-138)agC>agT		ninjurin 1							98	80	86					9																	95888858		2203	4300	6503	SO:0001819	synonymous_variant	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95888858G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.138C>T	9.37:g.95888858G>A							p.S46S	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			2	208	-			46					Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	c.138C>T	CCDS6703.1																																																																																				0.667	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		10	480	0	0	0	1	0	10	480					A	95888858	G	A	95888858	2	1	79	1	0	0	0	0	0	0	0	1	10460	1078	38	1		1	NINJ1	9	95888858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278741	95888858	45324573	10179	20496											
WNK2	65268	broad.mit.edu	37	chr9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgcggttccttcaagaCggtctacaaggggctggaca	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(622-624)aCg>aTg		WNK lysine deficient protein kinase 2							38	38	38					9																	95947834		2202	4299	6501	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95947834C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.623C>T	9.37:g.95947834C>T	ENSP00000297954:p.Thr208Met					WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M	p.T208M			Q9Y3S1	WNK2_HUMAN			1	623	+			208			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.623C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932178|3.932178	0.73442|0.73442	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	4.34|4.34	4.34|4.34	0.51931|0.51931	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77287|0.77287	0.4108|0.4108	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|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	T|T	0.80564|0.80564	-0.1326|-0.1326	5|10	.|0.87932	.|D	.|0	.|.	16.8414|16.8414	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;208;208;208	.|Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|M	204|208;208;208;194	.|ENSP00000412465:T208M;ENSP00000297954:T208M;ENSP00000378860:T208M;ENSP00000378858:T194M	.|ENSP00000297954:T208M	R|T	+|+	1|2	2|0	WNK2|WNK2	94987655|94987655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	5.818000|5.818000	0.69236|0.69236	2.132000|2.132000	0.65825|0.65825	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		23	118	0	0	0	1	0	23	118					T	95947834	C	T	95947834	3	4	79	1	0	0	0	0	1	0	0	0	17432	536	19	1	625	1	WNK2	9	95947834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58976	95947834	45265597	10180	20497											
WNK2	65268	broad.mit.edu	37	chr9	96051635	96051635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctcggccctggagtcGgatggggaagggccgccccc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1570					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAG	0.701																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4708-4710)tcG>tcA		WNK lysine deficient protein kinase 2							17	20	19					9																	96051635		2201	4297	6498	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051635G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4710G>A	9.37:g.96051635G>A						WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000395477.2_Silent_p.S1533S	p.S1570S			Q9Y3S1	WNK2_HUMAN			20	4710	+			1570					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4710G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.503|0.503	-0.869937|-0.869937	0.02570|0.02570	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.48370|0.48370	0.1496|0.1496	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66590|0.66590	-0.5885|-0.5885	4|4	.|.	.|.	.|.	.|.	10.4564|10.4564	0.44553|0.44553	0.1629:0.0:0.3035:0.5336|0.1629:0.0:0.3035:0.5336	.|.	.|.	.|.	.|.	R|Q	1137|1529;330;56	.|.	.|.	G|R	+|+	1|2	0|0	WNK2|WNK2	95091456|95091456	0.000000|0.000000	0.05858|0.05858	0.137000|0.137000	0.22149|0.22149	0.154000|0.154000	0.21943|0.21943	-4.704000|-4.704000	0.00196|0.00196	-3.903000|-3.903000	0.00093|0.00093	-1.618000|-1.618000	0.00794|0.00794	GGA|CGG		0.701	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		10	96	0	0	0	1	0	10	96					A	96051635	G	A	96051635	2	1	79	1	0	0	0	0	0	0	0	1	17432	1103	39	1		1	WNK2	9	96051635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103801	96051635	45161796	10181	20498											
WNK2	65268	broad.mit.edu	37	chr9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtgtggggctcactGcagacagcacgggcctgagc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2035					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6103-6105)Gca>Aca		WNK lysine deficient protein kinase 2							29	29	29					9																	96061420		2199	4293	6492	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96061420G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6103G>A	9.37:g.96061420G>A	ENSP00000297954:p.Ala2035Thr					WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T	p.A2035T			Q9Y3S1	WNK2_HUMAN			25	6103	+			2035					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6103G>A		.	.	.	.	.	.	.	.	.	.	G	12.05	1.821450	0.32237	.	.	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T;T;T;T	0.71579	-0.58;-0.57;0.04;0.04	4.1	4.1	0.47936	.	0.360403	0.29515	N	0.011924	T	0.79299	0.4422	L	0.53249	1.67	0.26252	N	0.978704	D;D;D;D	0.63880	0.991;0.993;0.988;0.993	P;D;D;D	0.77557	0.641;0.977;0.99;0.956	T	0.70684	-0.4804	10	0.54805	T	0.06	.	12.3721	0.55260	0.0:0.0:0.7483:0.2517	.	1998;1993;1998;2035	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2035;1998;1647;1610	ENSP00000297954:A2035T;ENSP00000378860:A1998T;ENSP00000297876:A1647T;ENSP00000411181:A1610T	ENSP00000297954:A2035T	A	+	1	0	WNK2	95101241	0.082000	0.21442	0.263000	0.24496	0.584000	0.36387	1.764000	0.38471	1.841000	0.53522	0.655000	0.94253	GCA		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		20	155	0	0	0	1	0	20	155					A	96061420	G	A	96061420	3	1	79	1	0	0	0	0	1	0	0	0	17432	1319	46	2	6086	2	WNK2	9	96061420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9785	96061420	45152011	10182	20499											
FAM120A	23196	broad.mit.edu	37	chr9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaagtgattggtttctgcaGagagaatggtttccatggct	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	175						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(523-525)aGa>aAa		family with sequence similarity 120A							191	156	168					9																	96233472		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96233472G>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.524G>A	9.37:g.96233472G>A	ENSP00000277165:p.Arg175Lys					FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			2	718	+			175					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.524G>A	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982898|4.982898	0.93044|0.93044	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.50333|0.50333	1.59|1.59	0.44825|0.44825	D|D	0.997839|0.997839	.|B;D	.|0.56035	.|0.394;0.974	.|B;P	.|0.60541	.|0.187;0.876	T|T	0.63703|0.63703	-0.6577|-0.6577	5|10	.|0.72032	.|D	.|0.01	-14.9215|-14.9215	19.1566|19.1566	0.93514|0.93514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175;175	.|Q9NZB2;Q9NZB2-2	.|F120A_HUMAN;.	K|K	18|175	.|ENSP00000364538:R175K;ENSP00000277165:R175K;ENSP00000334918:R175K;ENSP00000344698:R175K	.|ENSP00000277165:R175K	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95273293|95273293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.697000|7.697000	0.84279|0.84279	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		66	284	0	0	0	1	0	66	284					A	96233472	G	A	96233472	3	1	79	1	0	0	0	0	1	0	0	0	5436	942	33	2	530	2	FAM120A	9	96233472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172052	96233472	44979959	10183	20500											
FAM120A	23196	broad.mit.edu	37	chr9	96318839	96318839	+	Frame_Shift_Del	DEL	A	A	-													actcctcaaagccagccgggAaaagaccccactcattgacc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	ENST00000277165.6	+	13	2644	c.2450delA	c.(2449-2451)gaafs	p.E817fs	FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs|FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	817						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCCGGGAAAAGACCCCA	0.502																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2449-2451)gafs		family with sequence similarity 120A							127	132	130					9																	96318839		2203	4300	6503	SO:0001589	frameshift_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96318839delA	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2450delA	9.37:g.96318839delA	ENSP00000277165:p.Glu817fs					FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs	p.E817fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			13	2644	+			817					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Del	DEL	ENST00000277165.6	37	c.2450delA	CCDS6706.1																																																																																				0.502	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		147	899						147	899	---	---	---	---	-	96318839	A	-	96318839	7	5	79	1	0	1	0	1	0	0	0	0	5436	246	9	0	2500	0	FAM120A	9	96318839	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	85367	96318839	44894592	10184	20501											
PHF2	5253	broad.mit.edu	37	chr9	96392276	96392276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggtggaagaggaggaGgcgcccgacatcgacatata	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	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)			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)		AAGAGGAGGAGGCGCCCGACA	0.542																																						ENST00000359246.4																			0				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						c.(121-123)gaG>gaA		PHD finger protein 2							155	129	138					9																	96392276		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:96392276G>A	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.123G>A	9.37:g.96392276G>A						PHF2_ENST00000375376.4_Silent_p.E41E	p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	2	490	+		Myeloproliferative disorder(762;0.0255)	41	FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).				Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.123G>A	CCDS35069.1																																																																																				0.542	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		72	412	0	0	0	1	0	72	412					A	96392276	G	A	96392276	2	1	79	1	0	0	0	0	0	0	0	1	11872	991	35	2		2	PHF2	9	96392276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73437	96392276	44821155	10185	20502											
PHF2	5253	broad.mit.edu	37	chr9	96425295	96425295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagcaagtcagaggccaAgtggaagtacaaggtgagaa	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96425295A>G	ENST00000359246.4	+	13	2172	c.1805A>G	c.(1804-1806)aAg>aGg	p.K602R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	602	Lys-rich.				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)			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)		TCAGAGGCCAAGTGGAAGTAC	0.502																																						ENST00000359246.4																			0				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						c.(1804-1806)aAg>aGg		PHD finger protein 2							130	109	116					9																	96425295		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.chr9:96425295A>G	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.1805A>G	9.37:g.96425295A>G	ENSP00000352185:p.Lys602Arg					PHF2_ENST00000375376.4_Intron	p.K602R	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	13	2172	+		Myeloproliferative disorder(762;0.0255)	602			Lys-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1805A>G	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107668	0.37242	.	.	ENSG00000197724	ENST00000359246	T	0.20200	2.09	3.99	3.99	0.46301	.	0.050265	0.85682	D	0.000000	T	0.15478	0.0373	L	0.42245	1.32	0.80722	D	1	B;P	0.38922	0.023;0.651	B;B	0.30401	0.015;0.115	T	0.07121	-1.0789	10	0.23302	T	0.38	-18.2991	13.0498	0.58948	1.0:0.0:0.0:0.0	.	20;602	Q8N359;O75151	.;PHF2_HUMAN	R	602	ENSP00000352185:K602R	ENSP00000352185:K602R	K	+	2	0	PHF2	95465116	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.247000	0.89830	1.670000	0.50864	0.248000	0.18094	AAG		0.502	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		7	247	0	0	0	1	0	7	247					G	96425295	A	G	96425295	3	3	79	1	0	0	0	0	1	0	0	0	11872	72	3	4	1855	4	PHF2	9	96425295	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33019	96425295	44788136	10186	20503											
PHF2	5253	broad.mit.edu	37	chr9	96435918	96435918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcagggaatgctgtcCatggccaacctgcaggcctc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					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)			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)		GAATGCTGTCCATGGCCAACC	0.667																																						ENST00000359246.4																			0				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						c.(2398-2400)tcC>tcT		PHD finger protein 2							31	34	33					9																	96435918		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:96435918C>T	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.2400C>T	9.37:g.96435918C>T						PHF2_ENST00000375376.4_Intron	p.S800S	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	18	2767	+		Myeloproliferative disorder(762;0.0255)	800					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.2400C>T	CCDS35069.1																																																																																				0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		42	224	0	0	0	1	0	42	224					T	96435918	C	T	96435918	2	4	79	1	0	0	0	0	0	0	0	1	11872	581	21	2		2	PHF2	9	96435918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10623	96435918	44777513	10187	20504											
PTPDC1	138639	broad.mit.edu	37	chr9	96846893	96846893	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgccggcactccacCtcagacccagtactgcggct	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846893C>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Silent_p.T27T	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGCACTCCACCTCAGACCCAG	0.682																																						ENST00000288976.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(79-81)acC>acT		protein tyrosine phosphatase domain containing 1							31	34	33					9																	96846893		2200	4296	6496	SO:0001627	intron_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96846893C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-640C>T	9.37:g.96846893C>T						PTPDC1_ENST00000375360.3_Intron	p.T27T	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN			1	148	+			0	K -> T (in Ref. 1; AAO13168).				Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.81C>T	CCDS6707.1																																																																																				0.682	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		83	340	0	0	0	1	0	83	340					T	96846893	C	T	96846893	1	4	79	0	1	0	0	0	0	0	0	0	12821	668	24	2		2	PTPDC1	9	96846893	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410975	96846893	44366538	10188	20505											
PTPDC1	138639	broad.mit.edu	37	chr9	96846909	96846909	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcagacccagtactgCggctgcagcaggcccggcgg	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846909C>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Missense_Mutation_p.R33W	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCAGTACTGCGGCTGCAGCA	0.667																																						ENST00000288976.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(97-99)Cgg>Tgg		protein tyrosine phosphatase domain containing 1							33	35	35					9																	96846909		2182	4269	6451	SO:0001627	intron_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96846909C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-624C>T	9.37:g.96846909C>T						PTPDC1_ENST00000375360.3_Intron	p.R33W	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN			1	164	+			0					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.97C>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872737	0.33069	.	.	ENSG00000158079	ENST00000288976	T	0.16324	2.35	5.68	1.35	0.21983	.	1.591560	0.03622	N	0.236556	T	0.12689	0.0308	N	0.22421	0.69	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.12837	0.003;0.008	T	0.31392	-0.9945	10	0.62326	D	0.03	0.0487	4.2931	0.10888	0.3229:0.4473:0.0:0.2298	.	33;33	E7EN59;A2A3K4-2	.;.	W	33	ENSP00000288976:R33W	ENSP00000288976:R33W	R	+	1	2	PTPDC1	95886730	0.900000	0.30661	0.011000	0.14972	0.734000	0.41952	0.803000	0.27083	0.034000	0.15491	0.591000	0.81541	CGG		0.667	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		80	370	0	0	0	1	0	80	370					T	96846909	C	T	96846909	1	4	79	0	1	0	0	0	0	0	0	0	12821	759	27	1		1	PTPDC1	9	96846909	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	96846909	44366522	10189	20506											
PTPDC1	138639	broad.mit.edu	37	chr9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcaaattgctgctggaCttagcggagaacaggccagt	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000375360.3	+	7	1234	c.894C>A	c.(892-894)gaC>gaA	p.D298E	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(892-894)gaC>gaA		protein tyrosine phosphatase domain containing 1							87	85	86					9																	96859904		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859904C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.894C>A	9.37:g.96859904C>A	ENSP00000364509:p.Asp298Glu					PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	p.D298E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1234	+			298					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.894C>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939996	0.52972	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12672	2.66;2.66	5.64	2.78	0.32641	.	0.041854	0.85682	D	0.000000	T	0.20088	0.0483	M	0.69823	2.125	0.42409	D	0.992596	P;P;B;P	0.41929	0.765;0.532;0.264;0.584	P;B;B;B	0.44359	0.447;0.348;0.132;0.351	T	0.04413	-1.0953	10	0.62326	D	0.03	-24.5012	10.5814	0.45257	0.0:0.7951:0.0:0.2049	.	352;350;352;298	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	E	298;350	ENSP00000364509:D298E;ENSP00000288976:D350E	ENSP00000288976:D350E	D	+	3	2	PTPDC1	95899725	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	0.749000	0.26320	1.384000	0.46424	0.655000	0.94253	GAC		0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		22	450	1	0	5.26018e-13	1	5.6673e-13	22	450					A	96859904	C	A	96859904	3	1	79	1	0	0	0	0	1	0	0	0	12821	564	20	3	1158	3	PTPDC1	9	96859904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12995	96859904	44353527	10190	20507											
PTPDC1	138639	broad.mit.edu	37	chr9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagatttaaagagggccGagaacctcctggagcaaggg	13	9	1	3	rs199863157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000375360.3	+	7	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	402					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1204-1206)Gag>Aag		protein tyrosine phosphatase domain containing 1							52	54	53					9																	96860214		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860214G>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1204G>A	9.37:g.96860214G>A	ENSP00000364509:p.Glu402Lys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	p.E402K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1544	+			402					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1204G>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333160	0.24167	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12984	2.64;2.63	5.52	3.64	0.41730	.	0.187387	0.56097	N	0.000026	T	0.11324	0.0276	L	0.47716	1.5	0.18873	N	0.999986	B;B;B;B	0.19445	0.021;0.036;0.021;0.021	B;B;B;B	0.13407	0.004;0.009;0.004;0.004	T	0.32955	-0.9887	10	0.15066	T	0.55	-12.7677	9.6524	0.39906	0.0779:0.1424:0.7797:0.0	.	456;454;456;402	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	402;454	ENSP00000364509:E402K;ENSP00000288976:E454K	ENSP00000288976:E454K	E	+	1	0	PTPDC1	95900035	0.998000	0.40836	0.014000	0.15608	0.642000	0.38348	3.373000	0.52394	0.660000	0.30964	0.655000	0.94253	GAG		0.527	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		38	232	0	0	0	1	0	38	232					A	96860214	G	A	96860214	3	1	79	1	0	0	0	0	1	0	0	0	12821	1059	37	1	1468	1	PTPDC1	9	96860214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310	96860214	44353217	10191	20508											
PTPDC1	138639	broad.mit.edu	37	chr9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaaaccctgctcaccAgcaagtgtctcactgtcagt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000375360.3	+	7	1899	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	520					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCTGCTCACCAGCAAGTGTCT	0.552																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1558-1560)cAg>cGg		protein tyrosine phosphatase domain containing 1							86	91	89					9																	96860569		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860569A>G	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1559A>G	9.37:g.96860569A>G	ENSP00000364509:p.Gln520Arg					PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	p.Q520R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1899	+			520					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1559A>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333069	0.11013	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.46451	0.87;0.87	6.06	3.62	0.41486	.	0.653390	0.16932	N	0.193629	T	0.27866	0.0686	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.30966	-0.9960	10	0.10111	T	0.7	-4.0139	2.7677	0.05325	0.6194:0.155:0.0776:0.148	.	574;572;574;520	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	R	520;572	ENSP00000364509:Q520R;ENSP00000288976:Q572R	ENSP00000288976:Q572R	Q	+	2	0	PTPDC1	95900390	0.550000	0.26489	0.079000	0.20413	0.606000	0.37113	2.715000	0.47210	0.474000	0.27392	0.533000	0.62120	CAG		0.552	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		14	486	0	0	0	1	0	14	486					G	96860569	A	G	96860569	3	3	79	1	0	0	0	0	1	0	0	0	12821	188	7	4	1823	4	PTPDC1	9	96860569	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	355	96860569	44352862	10192	20509											
FAM22F	54754	broad.mit.edu	37	chr9	97081272	97081272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagcctgggggaatcCtgacatcccaaaagcacagc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97081272C>A	ENST00000253262.4	-	7	1766	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.Q567H	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	582																	TGGGGGAATCCTGACATCCCA	0.672																																						ENST00000253262.4																			0											c.(1744-1746)caG>caT		NUT family member 2F							59	53	55					9																	97081272		1999	4162	6161	SO:0001583	missense	54754							g.chr9:97081272C>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1746G>T	9.37:g.97081272C>A	ENSP00000253262:p.Gln582His					NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.Q567H	p.Q582H	NM_017561.1	NP_060031.1					7	1766	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1746G>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154686	0.21371	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.16324	2.35;2.35	1.52	-0.556	0.11803	.	1.777890	0.02932	N	0.139294	T	0.33265	0.0857	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	D	0.64042	0.921	T	0.12837	-1.0532	10	0.44086	T	0.13	.	4.1144	0.10074	0.0:0.57:0.0:0.43	.	582	A1L443	FA22F_HUMAN	H	582;567;416	ENSP00000253262:Q582H;ENSP00000343865:Q567H	ENSP00000253262:Q582H	Q	-	3	2	FAM22F	96121093	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.708000	0.05035	-0.139000	0.11414	-0.391000	0.06502	CAG		0.672	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		45	230	1	0	3.86236e-30	1	4.52529e-30	45	230					A	97081272	C	A	97081272	3	1	79	1	0	0	0	0	1	0	0	0	5566	680	24	3	528	3	FAM22F	9	97081272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220703	97081272	44132159	10193	20510											
HIATL1	84641	broad.mit.edu	37	chr9	97220650	97220650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagaggactatgcaatggCctggggccagcactgtatgg	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000375344.3	+	11	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	391					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448																																					Pancreas(77;1260 1915 1973 10423)	ENST00000428393.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(880-882)Cct>Tct		hippocampus abundant transcript-like 1							135	130	131					9																	97220650		2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97220650C>T	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1173C>T	9.37:g.97220650C>T						HIATL1_ENST00000375344.3_Silent_p.G391G	p.P294S			Q5SR56	HIAL1_HUMAN			9	916	+		Acute lymphoblastic leukemia(62;0.136)	0					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.880C>T	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718586	0.30503	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50001	0.76	5.0	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.26123	N	0.980522	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	8	0.87932	D	0	-8.4171	5.6709	0.17721	0.0:0.6882:0.1983:0.1135	.	294	B4DUE6	.	S	96;294	ENSP00000405909:P294S	ENSP00000277183:P96S	P	+	1	0	HIATL1	96260471	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.664000	0.25068	1.395000	0.46643	0.655000	0.94253	CCT		0.448	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		71	381	0	0	0	1	0	71	381					T	97220650	C	T	97220650	2	4	79	1	0	0	0	0	0	0	0	1	7128	726	26	2		2	HIATL1	9	97220650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139378	97220650	43992781	10194	20511											
FBP2	8789	broad.mit.edu	37	chr9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggactcgctggtgaattgcCtcgggcttcacgtccagtac	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	309					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(925-927)gaG>gaT		fructose-1,6-bisphosphatase 2							106	92	97					9																	97321313		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97321313C>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.927G>T	9.37:g.97321313C>A	ENSP00000364486:p.Glu309Asp					PCAT7_ENST00000452148.2_RNA	p.E309D	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			7	993	-		Acute lymphoblastic leukemia(62;0.136)	309					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.927G>T	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722736	0.30503	.	.	ENSG00000130957	ENST00000375337	T	0.72051	-0.62	5.54	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.46947	1.48	0.42638	D	0.993408	B	0.02656	0.0	B	0.06405	0.002	T	0.55198	-0.8178	10	0.38643	T	0.18	0.0724	10.6656	0.45728	0.0:0.651:0.0:0.349	.	309	O00757	F16P2_HUMAN	D	309	ENSP00000364486:E309D	ENSP00000364486:E309D	E	-	3	2	FBP2	96361134	0.005000	0.15991	0.147000	0.22382	0.744000	0.42396	0.135000	0.15952	0.457000	0.26962	0.655000	0.94253	GAG		0.572	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		69	333	1	0	3.05759e-45	1	3.74787e-45	69	333					A	97321313	C	A	97321313	3	1	79	1	0	0	0	0	1	0	0	0	5731	680	24	3	96	3	FBP2	9	97321313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100663	97321313	43892118	10195	20512											
C9orf3	84909	broad.mit.edu	37	chr9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatcgggtctttgccCctgtgtgcctcacgggtgcc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000375315.2	+	4	1213	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	405					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1213-1215)Cct>Act		chromosome 9 open reading frame 3							95	83	87					9																	97563133		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97563133C>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1213C>A	9.37:g.97563133C>A	ENSP00000364464:p.Pro405Thr					C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T	p.P405T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	4	1213	+			405					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1213C>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062172	0.55432	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.04970	4.31;3.52;3.52;3.52;3.52;4.31	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76575	0.948;0.967;0.988;0.956	T	0.00070	-1.2134	10	0.37606	T	0.19	-11.1188	12.4307	0.55573	0.0:0.924:0.0:0.076	.	405;405;405;405	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	405;405;405;228;187;25	ENSP00000277198:P405T;ENSP00000297979:P405T;ENSP00000364464:P405T;ENSP00000402171:P228T;ENSP00000401854:P187T;ENSP00000378763:P25T	ENSP00000277198:P405T	P	+	1	0	C9orf3	96602954	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.533000	0.53561	2.747000	0.94245	0.650000	0.86243	CCT		0.582	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		62	378	1	0	3.21867e-24	1	3.67736e-24	62	378					A	97563133	C	A	97563133	3	1	79	1	0	0	0	0	1	0	0	0	2484	623	22	3	1227	3	C9orf3	9	97563133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241820	97563133	43650298	10196	20513											
FANCC	2176	broad.mit.edu	37	chr9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccatggcaagagatGgagaagtgtaaggaaagtag	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000464653.1_5'UTR|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.P346L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	346					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1036-1038)cCa>cTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							100	90	93					9																	97879632		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97879632G>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1037C>T	9.37:g.97879632G>A	ENSP00000289081:p.Pro346Leu					FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.P346L	p.P346L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			11	1291	-		Acute lymphoblastic leukemia(62;0.138)	346					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1037C>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864764	0.51482	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.65	5.65	0.86999	.	0.330468	0.33980	N	0.004380	T	0.53997	0.1831	M	0.67953	2.075	0.21416	N	0.999698	D	0.56521	0.976	P	0.46419	0.516	T	0.59257	-0.7488	10	0.59425	D	0.04	-7.3384	9.5099	0.39071	0.0:0.1275:0.6774:0.1952	.	346	Q00597	FANCC_HUMAN	L	346	ENSP00000289081:P346L;ENSP00000364454:P346L	ENSP00000289081:P346L	P	-	2	0	FANCC	96919453	0.882000	0.30256	0.325000	0.25375	0.484000	0.33280	2.583000	0.46094	2.941000	0.99782	0.655000	0.94253	CCA		0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		19	124	0	0	0	1	0	19	124					A	97879632	G	A	97879632	3	1	79	1	0	0	0	0	1	0	0	0	5689	1348	47	2	659	2	FANCC	9	97879632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316499	97879632	43333799	10197	20514											
PTCH1	5727	broad.mit.edu	37	chr9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggcggcgggtgcacggCgacagtcacggaggcagaag	19	10	1	1	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000331920.6	-	23	4437	c.4138G>A	c.(4138-4140)Gcc>Acc	p.A1380T	PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000430669.2_Missense_Mutation_p.A1314T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1380					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGTGCACGGCGACAGTCACG	0.687																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3940-3942)Gcc>Acc		patched 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	26	31	29		4138,3940,4135,3685,3685,3685,3685	5.1	0.1	9	dbSNP_132	29	1,8591		0,1,4295	no	missense,missense,missense,missense,missense,missense,missense	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	58,58,58,58,58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1380/1448,1314/1382,1379/1447,1229/1297,1229/1297,1229/1297,1229/1297	98209400	1,12993	2201	4296	6497	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209400C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4138G>A	9.37:g.98209400C>T	ENSP00000332353:p.Ala1380Thr					PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A1380T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T	p.A1314T			Q13635	PTC1_HUMAN			23	4525	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1380					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3940G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744437	0.69418	0.0	1.16E-4	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93426	-3.21;-3.17;-3.18;-3.18;-3.17;-3.18;-3.22	5.12	5.12	0.69794	.	0.052411	0.85682	D	0.000000	D	0.93697	0.7986	L	0.55481	1.735	0.80722	D	1	P;D;D	0.60160	0.943;0.987;0.978	B;P;B	0.49637	0.399;0.617;0.413	D	0.94295	0.7532	10	0.72032	D	0.01	-22.9428	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1314;1379;1380	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	1380;1314;1229;1229;1314;172;1229;1379	ENSP00000332353:A1380T;ENSP00000389744:A1314T;ENSP00000399981:A1229T;ENSP00000396135:A1229T;ENSP00000410287:A1314T;ENSP00000414823:A1229T;ENSP00000364423:A1379T	ENSP00000332353:A1380T	A	-	1	0	PTCH1	97249221	1.000000	0.71417	0.075000	0.20258	0.104000	0.19210	7.608000	0.82898	2.659000	0.90383	0.655000	0.94253	GCC		0.687	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		17	481	0	0	0	1	0	17	481					T	98209400	C	T	98209400	3	4	79	1	0	0	0	0	1	0	0	0	12777	768	27	1	209	1	PTCH1	9	98209400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329768	98209400	43004031	10198	20515											
PTCH1	5727	broad.mit.edu	37	chr9	98211451	98211451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtgccgaagctcctcgCtgaggcctgacactgtcgtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98211451C>T	ENST00000331920.6	-	22	4003	c.3704G>A	c.(3703-3705)aGc>aAc	p.S1235N	PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000430669.2_Missense_Mutation_p.S1169N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1235					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCTCCTCGCTGAGGCCTGA	0.657																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3505-3507)aGc>aAc		patched 1							25	26	25					9																	98211451		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98211451C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3704G>A	9.37:g.98211451C>T	ENSP00000332353:p.Ser1235Asn					PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1235N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N	p.S1169N			Q13635	PTC1_HUMAN			22	4091	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1235					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3506G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434805	0.83885	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90676	-2.71;-2.7;-2.68;-2.68;-2.7;-2.68;-2.71	5.95	5.05	0.67936	.	0.079218	0.85682	D	0.000000	D	0.91209	0.7230	L	0.60455	1.87	0.58432	D	0.999998	P;D;D	0.56746	0.899;0.977;0.961	P;P;B	0.49829	0.528;0.623;0.419	D	0.90167	0.4232	10	0.34782	T	0.22	-27.1213	16.7747	0.85548	0.1298:0.8702:0.0:0.0	.	1169;1234;1235	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1235;1169;1084;1084;1169;27;1084;1234	ENSP00000332353:S1235N;ENSP00000389744:S1169N;ENSP00000399981:S1084N;ENSP00000396135:S1084N;ENSP00000410287:S1169N;ENSP00000414823:S1084N;ENSP00000364423:S1234N	ENSP00000332353:S1235N	S	-	2	0	PTCH1	97251272	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.897000	0.69831	1.517000	0.48917	0.655000	0.94253	AGC		0.657	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	106	0	0	0	1	0	4	106					T	98211451	C	T	98211451	3	4	79	1	0	0	0	0	1	0	0	0	12777	797	28	2	647	2	PTCH1	9	98211451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2051	98211451	43001980	10199	20516											
PTCH1	5727	broad.mit.edu	37	chr9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcactactgacctcaGgatatggtccaaagaaagac	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000331920.6	-	21	3844	c.3545C>A	c.(3544-3546)cCt>cAt	p.P1182H	PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1116H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1182					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTGACCTCAGGATATGGTCC	0.537																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3346-3348)cCt>cAt		patched 1							98	85	89					9																	98212127		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98212127G>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3545C>A	9.37:g.98212127G>T	ENSP00000332353:p.Pro1182His					PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000331920.6_Missense_Mutation_p.P1182H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H	p.P1116H			Q13635	PTC1_HUMAN			21	3932	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1182					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3347C>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257690	0.80246	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90900	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.60455	1.87	0.80722	D	1	P;D;B	0.89917	0.767;1.0;0.409	P;D;B	0.74348	0.561;0.983;0.082	D	0.94148	0.7403	10	0.54805	T	0.06	-15.707	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1116;1181;1182	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1182;1116;1031;1031;1116;1031;1181	ENSP00000332353:P1182H;ENSP00000389744:P1116H;ENSP00000399981:P1031H;ENSP00000396135:P1031H;ENSP00000410287:P1116H;ENSP00000414823:P1031H;ENSP00000364423:P1181H	ENSP00000332353:P1182H	P	-	2	0	PTCH1	97251948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.606000	0.88127	0.561000	0.74099	CCT		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		36	141	1	0	3.76114e-14	1	4.07806e-14	36	141					T	98212127	G	T	98212127	3	4	79	1	0	0	0	0	1	0	0	0	12777	1000	35	3	810	3	PTCH1	9	98212127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	676	98212127	43001304	10200	20517											
PTCH1	5727	broad.mit.edu	37	chr9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccacaccaacaccaagaGcgagaaatggcaaaacctac	6	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000331920.6	-	11	1819	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1321-1323)gCt>gAt		patched 1							143	111	121					9																	98239123		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239123G>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1520C>A	9.37:g.98239123G>T	ENSP00000332353:p.Ala507Asp					PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D	p.A441D			Q13635	PTC1_HUMAN			11	1907	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	507			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1322C>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122708	0.77436	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.998	D	0.98834	1.0752	10	0.87932	D	0	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	507;441;356;356;441;356;506;172	ENSP00000332353:A507D;ENSP00000389744:A441D;ENSP00000399981:A356D;ENSP00000396135:A356D;ENSP00000410287:A441D;ENSP00000414823:A356D;ENSP00000364423:A506D;ENSP00000364420:A172D	ENSP00000332353:A507D	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		20	122	1	0	1.2644e-06	1	1.30616e-06	20	122					T	98239123	G	T	98239123	3	4	79	1	0	0	0	0	1	0	0	0	12777	971	34	3	2875	3	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26996	98239123	42974308	10201	20518											
C9orf102	375748	broad.mit.edu	37	chr9	98669505	98669505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggaaatgtgaaattgCtctaacaacttatgaaacac	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98669505C>T	ENST00000288985.7	+	4	1078	c.773C>T	c.(772-774)gCt>gTt	p.A258V	RNA5SP289_ENST00000362332.1_RNA|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A69V|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	258	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGTGAAATTGCTCTAACAACT	0.343																																						ENST00000288985.7																			0											c.(772-774)gCt>gTt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							99	95	97					9																	98669505		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98669505C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.773C>T	9.37:g.98669505C>T	ENSP00000288985:p.Ala258Val					ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A69V|ERCC6L2_ENST00000466840.1_3'UTR	p.A258V	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			4	1078	+			258			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.773C>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608227	0.46527	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.89552	-2.53;-2.53	5.35	5.35	0.76521	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000047	T	0.68815	0.3042	N	0.00337	-1.62	0.80722	D	1	B;P	0.43231	0.285;0.801	B;B	0.39339	0.102;0.297	T	0.76865	-0.2801	10	0.18276	T	0.48	-17.7664	19.075	0.93158	0.0:1.0:0.0:0.0	.	69;258	Q5T890-2;Q5T890	.;RAD26_HUMAN	V	258;69	ENSP00000288985:A258V;ENSP00000416286:A69V	ENSP00000288985:A258V	A	+	2	0	C9orf102	97709326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.502000	0.84385	0.591000	0.81541	GCT		0.343	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		69	284	0	0	0	1	0	69	284					T	98669505	C	T	98669505	3	4	79	1	0	0	0	0	1	0	0	0	2452	797	28	2	787	2	C9orf102	9	98669505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430382	98669505	42543926	10202	20519											
HSD17B3	3293	broad.mit.edu	37	chr9	98997811	98997811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctttggaaggcaccGctgtagaaggcccaggccgg	15	12	0	1	rs552614077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_ENST00000464104.1_5'UTR|AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000375262.2_Silent_p.S238S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	288					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				GGAAGGCACCGCTGTAGAAGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17973	0.0		0.0	False		,,,				2504	0.0					ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(862-864)agC>agT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						93	74	80					9																	98997811		2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:98997811G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.864C>T	9.37:g.98997811G>A						HSD17B3_ENST00000375262.2_Silent_p.S238S|HSD17B3_ENST00000464104.1_5'UTR	p.S288S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			11	911	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	288					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.864C>T	CCDS6716.1																																																																																				0.537	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		20	125	0	0	0	1	0	20	125					A	98997811	G	A	98997811	2	1	79	1	0	0	0	0	0	0	0	1	7415	1078	38	1		1	HSD17B3	9	98997811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328306	98997811	42215620	10203	20520											
HABP4	22927	broad.mit.edu	37	chr9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactcctagaagaggggaGcagcaaggatggaatgacag	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAAGAGGGGAGCAGCAAGGAT	0.527																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(376-378)gaG>gaT		hyaluronan binding protein 4							99	102	101					9																	99220689		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99220689G>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.378G>T	9.37:g.99220689G>T	ENSP00000364398:p.Glu126Asp					HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	p.E126D	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			2	453	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	126						Missense_Mutation	SNP	ENST00000375249.4	37	c.378G>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380545	0.42207	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.35973	1.28;1.47	4.58	4.58	0.56647	.	0.428708	0.25329	N	0.031444	T	0.39009	0.1062	L	0.31476	0.935	0.35363	D	0.78836	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.978	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.568	5.418	0.16384	0.2457:0.0:0.7543:0.0	.	126;126	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	D	126	ENSP00000364400:E126D;ENSP00000364398:E126D	ENSP00000364398:E126D	E	+	3	2	HABP4	98260510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.657000	0.37366	2.375000	0.81037	0.563000	0.77884	GAG		0.527	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		16	596	1	0	1.56452e-12	1	1.68123e-12	16	596					T	99220689	G	T	99220689	3	4	79	1	0	0	0	0	1	0	0	0	6969	962	34	3	384	3	HABP4	9	99220689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222878	99220689	41992742	10204	20521											
CDC14B	8555	broad.mit.edu	37	chr9	99266070	99266070	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttagtccttgaaatggagaGactacagggggaaaaaaaag	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Splice_Site_p.L449F|CDC14B_ENST00000375242.3_Splice_Site_p.L451F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.e14-1		cell division cycle 14B							75	73	74					9																	99266070		2203	4300	6503	SO:0001630	splice_region_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99266070G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1461-1C>T	9.37:g.99266070G>A						CDC14B_ENST00000375240.3_Splice_Site_p.L449_splice|CDC14B_ENST00000375242.3_Splice_Site_p.L451_splice|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR	p.L488_splice	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			14	1913	-		Acute lymphoblastic leukemia(62;0.0559)	488					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	37	c.1460_splice	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089961	0.08632	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.91996	-2.94;-2.95;-2.93	4.88	4.88	0.63580	.	0.552057	0.17597	N	0.168548	D	0.85733	0.5765	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28998	0.23;0.044;0.008	B;B;B	0.31390	0.129;0.023;0.002	T	0.81185	-0.1048	10	0.10111	T	0.7	0.3137	15.3465	0.74343	0.0:0.0:1.0:0.0	.	449;488;451	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	488;449;451	ENSP00000364389:L488F;ENSP00000364388:L449F;ENSP00000364390:L451F	ENSP00000364388:L449F	L	-	1	0	CDC14B	98305891	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	CTC		0.398	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	Missense_Mutation	69	280	0	0	0	1	0	69	280					A	99266070	G	A	99266070	5	1	79	1	0	0	0	0	0	0	1	0	3066	956	33	2	38	2	CDC14B	9	99266070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45381	99266070	41947361	10205	20522											
C9orf21	195827	broad.mit.edu	37	chr9	99404096	99404096	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgctgaactcctacaAgctgtaaaacagagttgata	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99404096A>C	ENST00000375234.3	-	6	625	c.626T>G	c.(625-627)cTt>cGt	p.L209R		NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	209																	AACTCCTACAAGCTGTAAAAC	0.388																																						ENST00000375234.3																			0											c.(625-627)cTt>cGt		AhpC/TSA antioxidant enzyme domain containing 1							120	111	114					9																	99404096		2203	4300	6503	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99404096A>C	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 21"	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.626T>G	9.37:g.99404096A>C	ENSP00000364382:p.Leu209Arg						p.L209R	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			6	625	-			209					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.626T>G	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.07|17.07	3.294235|3.294235	0.60086|0.60086	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000375234;ENST00000375233|ENST00000411939	T|T	0.50548|0.49720	0.74|0.77	5.29|5.29	4.14|4.14	0.48551|0.48551	.|.	0.066611|0.066611	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.48295|0.48295	0.1492|0.1492	M|M	0.66939|0.66939	2.045|2.045	0.52501|0.52501	D|D	0.999959|0.999959	D|.	0.71674|.	0.998|.	D|.	0.66602|.	0.945|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|8	0.66056|0.13470	D|T	0.02|0.59	-12.0304|-12.0304	7.0367|7.0367	0.24996|0.24996	0.6983:0.1541:0.0:0.1476|0.6983:0.1541:0.0:0.1476	.|.	209|.	Q7RTV5|.	CI021_HUMAN|.	R|V	209;165|93	ENSP00000364382:L209R|ENSP00000412378:L93V	ENSP00000364381:L165R|ENSP00000412378:L93V	L|L	-|-	2|1	0|2	C9orf21|C9orf21	98443917|98443917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.427000|5.427000	0.66483|0.66483	1.009000|1.009000	0.39289|0.39289	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.388	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		73	334	0	0	0	1	0	73	334					C	99404096	A	C	99404096	3	2	79	1	0	0	0	0	1	0	0	0	2480	72	3	4	58	4	C9orf21	9	99404096	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138026	99404096	41809335	10206	20523											
ZNF510	22869	broad.mit.edu	37	chr9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgagtcctttgatgTattctgaggtttgatttctg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1933-1935)atA>atG		zinc finger protein 510							102	110	107					9																	99521177		2202	4300	6502	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521177T>C	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1935A>G	9.37:g.99521177T>C	ENSP00000364379:p.Ile645Met					ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M	p.I645M			Q9Y2H8	ZN510_HUMAN			6	2585	-		Acute lymphoblastic leukemia(62;0.0527)	645					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1935A>G	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970517	0.34754	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.18016	2.24;2.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.35249	1.045	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.10660	-1.0620	9	0.45353	T	0.12	.	5.6042	0.17371	0.2439:0.0:0.0:0.7561	.	645	Q9Y2H8	ZN510_HUMAN	M	645	ENSP00000364379:I645M;ENSP00000223428:I645M	ENSP00000223428:I645M	I	-	3	3	ZNF510	98560998	0.000000	0.05858	0.895000	0.35142	0.902000	0.53008	-1.884000	0.01622	1.613000	0.50231	0.533000	0.62120	ATA		0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		124	583	0	0	0	1	0	124	583					C	99521177	T	C	99521177	3	2	79	1	0	0	0	0	1	0	0	0	18007	1628	57	4	120	4	ZNF510	9	99521177	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117081	99521177	41692254	10207	20524											
ZNF782	158431	broad.mit.edu	37	chr9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaatcccctgggtgggcTttctgatgttctctaaggct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	694					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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGGGTGGGCTTTCTGATGTT	0.388																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(2080-2082)aaA>aaC		zinc finger protein 782							75	78	77					9																	99580223		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580223T>G	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2082A>C	9.37:g.99580223T>G	ENSP00000419397:p.Lys694Asn					ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N	p.K694N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	2743	-		Acute lymphoblastic leukemia(62;0.0527)	694					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.2082A>C	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.27|14.27	2.484678|2.484678	0.44147|0.44147	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.16457|.	2.34;2.34|.	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42086|0.42086	0.1187|0.1187	M|M	0.63169|0.63169	1.94|1.94	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|5	0.87932|.	D|.	0|.	.|.	6.0568|6.0568	0.19816|0.19816	0.0:0.3139:0.0:0.6861|0.0:0.3139:0.0:0.6861	.|.	694|.	Q6ZMW2|.	ZN782_HUMAN|.	N|R	694;562|683	ENSP00000419397:K694N;ENSP00000440624:K562N|.	ENSP00000419397:K694N|.	K|S	-|-	3|1	2|0	ZNF782|ZNF782	98620044|98620044	0.000000|0.000000	0.05858|0.05858	0.464000|0.464000	0.27143|0.27143	0.890000|0.890000	0.51754|0.51754	-0.677000|-0.677000	0.05215|0.05215	-0.037000|-0.037000	0.13646|0.13646	0.533000|0.533000	0.62120|0.62120	AAA|AGC		0.388	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		103	330	0	0	0	1	0	103	330					G	99580223	T	G	99580223	3	3	79	1	0	0	0	0	1	0	0	0	18208	1606	56	4	21	4	ZNF782	9	99580223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59046	99580223	41633208	10208	20525											
ZNF782	158431	broad.mit.edu	37	chr9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttgtgagtgattctacaGaaacaatttccagtatcatt	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	280					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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(838-840)ttC>ttA		zinc finger protein 782							85	89	88					9																	99581465		2203	4299	6502	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581465G>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.840C>A	9.37:g.99581465G>T	ENSP00000419397:p.Phe280Leu					ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L	p.F280L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1501	-		Acute lymphoblastic leukemia(62;0.0527)	280					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.840C>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062972|3.062972	0.55432|0.55432	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.05081|.	3.56;3.5|.	3.8|3.8	2.91|2.91	0.33838|0.33838	Zinc finger, C2H2 (1);|.	0.491488|.	0.15252|.	N|.	0.272278|.	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.48174|0.48174	1.505|1.505	0.20563|0.20563	N|N	0.999882|0.999882	B|.	0.25904|.	0.137|.	B|.	0.27715|.	0.082|.	T|T	0.24941|0.24941	-1.0146|-1.0146	10|5	0.59425|.	D|.	0.04|.	.|.	9.737|9.737	0.40395|0.40395	0.1042:0.0:0.8958:0.0|0.1042:0.0:0.8958:0.0	.|.	280|.	Q6ZMW2|.	ZN782_HUMAN|.	L|M	280;148|269	ENSP00000419397:F280L;ENSP00000440624:F148L|.	ENSP00000419397:F280L|.	F|L	-|-	3|1	2|2	ZNF782|ZNF782	98621286|98621286	0.867000|0.867000	0.29959|0.29959	0.093000|0.093000	0.20910|0.20910	0.015000|0.015000	0.08874|0.08874	0.649000|0.649000	0.24843|0.24843	1.202000|1.202000	0.43218|0.43218	0.650000|0.650000	0.86243|0.86243	TTC|CTG		0.358	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		72	346	1	0	4.29146e-36	1	5.13238e-36	72	346					T	99581465	G	T	99581465	3	4	79	1	0	0	0	0	1	0	0	0	18208	933	33	3	1263	3	ZNF782	9	99581465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242	99581465	41631966	10209	20526											
ZNF782	158431	broad.mit.edu	37	chr9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagtgttagttctgcCatccttaatactgatgagcc	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	178					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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTAGTTCTGCCATCCTTAATA	0.413																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(532-534)Ggc>Agc		zinc finger protein 782							78	78	78					9																	99581773		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581773C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.532G>A	9.37:g.99581773C>T	ENSP00000419397:p.Gly178Ser					ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	p.G178S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1193	-		Acute lymphoblastic leukemia(62;0.0527)	178					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.532G>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400587|1.400587	0.25291|0.25291	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.05580|.	3.58;3.42;5.92|.	3.38|3.38	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	T|.	0.17066|.	0.0410|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.23904|.	-1.0175|.	9|.	0.66056|.	D|.	0.02|.	.|.	1.2202|1.2202	0.01922|0.01922	0.1871:0.3649:0.2541:0.1939|0.1871:0.3649:0.2541:0.1939	.|.	178|.	Q6ZMW2|.	ZN782_HUMAN|.	S|X	178;46;178|166	ENSP00000419397:G178S;ENSP00000440624:G46S;ENSP00000417577:G178S|.	ENSP00000417577:G178S|.	G|W	-|-	1|2	0|0	ZNF782|ZNF782	98621594|98621594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.104000|0.104000	0.19210|0.19210	-1.035000|-1.035000	0.03564|0.03564	-0.587000|-0.587000	0.05890|0.05890	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		52	294	0	0	0	1	0	52	294					T	99581773	C	T	99581773	3	4	79	1	0	0	0	0	1	0	0	0	18208	594	21	2	1571	2	ZNF782	9	99581773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	99581773	41631658	10210	20527											
CTSL2	1515	broad.mit.edu	37	chr9	99799558	99799558	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcactggcgtcacgtaGcctttctttctccaatccac	5	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799558G>T	ENST00000259470.5	-	4	621	c.372C>A	c.(370-372)ggC>ggA	p.G124G	CTSV_ENST00000538255.1_Silent_p.G124G|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GCGTCACGTAGCCTTTCTTTC	0.478																																						ENST00000259470.5																			0											c.(370-372)ggC>ggA		cathepsin V							73	66	68					9																	99799558		2203	4300	6503	SO:0001819	synonymous_variant	1515							g.chr9:99799558G>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.372C>A	9.37:g.99799558G>T						CTSV_ENST00000538255.1_Silent_p.G124G	p.G124G	NM_001333.3	NP_001324.2					4	621	-								O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.372C>A	CCDS6723.1																																																																																				0.478	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		10	226	1	0	7.48243e-07	1	7.73841e-07	10	226					T	99799558	G	T	99799558	2	4	79	1	0	0	0	0	0	0	0	1	4050	958	34	3		3	CTSL2	9	99799558	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217785	99799558	41413873	10211	20528											
CTSL2	1515	broad.mit.edu	37	chr9	99799653	99799653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctggtttcgaaagcaacCcatcatctgcctgaattctt	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799653C>A	ENST00000259470.5	-	4	526	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	CTSV_ENST00000538255.1_Missense_Mutation_p.G93C|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	93					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CGAAAGCAACCCATCATCTGC	0.413																																						ENST00000259470.5																			0											c.(277-279)Ggt>Tgt		cathepsin V							104	104	104					9																	99799653		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99799653C>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.277G>T	9.37:g.99799653C>A	ENSP00000259470:p.Gly93Cys					CTSV_ENST00000538255.1_Missense_Mutation_p.G93C|CTSV_ENST00000479932.1_5'UTR	p.G93C	NM_001333.3	NP_001324.2					4	526	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.277G>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513075	0.27123	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.23754	1.89;1.89	3.81	2.69	0.31865	.	0.089923	0.85682	D	0.000000	T	0.26666	0.0652	M	0.64080	1.96	0.31860	N	0.621044	B;B	0.33073	0.396;0.396	B;B	0.39068	0.289;0.289	T	0.22034	-1.0228	9	.	.	.	.	7.0341	0.24983	0.0:0.1164:0.0:0.8835	.	93;93	B2R717;O60911	.;CATL2_HUMAN	C	93	ENSP00000259470:G93C;ENSP00000445052:G93C	.	G	-	1	0	CTSL2	98839474	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	5.621000	0.67743	0.852000	0.35287	-0.367000	0.07326	GGT		0.413	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		58	398	1	0	1.53582e-20	1	1.72188e-20	58	398					A	99799653	C	A	99799653	3	1	79	1	0	0	0	0	1	0	0	0	4050	623	22	3	747	3	CTSL2	9	99799653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	99799653	41413778	10212	20529											
KIAA1529	100499483	broad.mit.edu	37	chr9	100074478	100074478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcggggtctcatggataCtataggtgagcctccattca	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100074478C>T	ENST00000357054.1	+	18	1828	c.893C>T	c.(892-894)aCt>aTt	p.T298I	CCDC180_ENST00000411667.2_Missense_Mutation_p.T159I|CCDC180_ENST00000529487.1_Missense_Mutation_p.T159I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.T159I|CCDC180_ENST00000395220.1_Missense_Mutation_p.T298I|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	298						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTCATGGATACTATAGGTGAG	0.577																																						ENST00000375202.2																			0											c.(475-477)aCt>aTt		coiled-coil domain containing 180							83	84	84					9																	100074478		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100074478C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.893C>T	9.37:g.100074478C>T	ENSP00000349562:p.Thr298Ile					CCDC180_ENST00000395220.1_Missense_Mutation_p.T298I|CCDC180_ENST00000411667.2_Missense_Mutation_p.T159I|CCDC180_ENST00000357054.1_Missense_Mutation_p.T298I|CCDC180_ENST00000529487.1_Missense_Mutation_p.T159I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR	p.T159I							18	1828	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.476C>T		.	.	.	.	.	.	.	.	.	.	C	0.591	-0.832948	0.02713	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.17528	3.14;2.27;3.14;2.78;3.14	4.92	-3.33	0.04958	.	0.762218	0.12312	N	0.480121	T	0.06690	0.0171	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.21606	0.058;0.017;0.017;0.017	B;B;B;B	0.16289	0.015;0.007;0.012;0.012	T	0.35624	-0.9781	10	0.20519	T	0.43	0.1475	0.932	0.01337	0.3621:0.2177:0.251:0.1692	.	159;298;159;298	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	I	298;298;159;159;182;159	ENSP00000349562:T298I;ENSP00000378646:T298I;ENSP00000364348:T159I;ENSP00000414000:T159I;ENSP00000434727:T159I	ENSP00000349562:T298I	T	+	2	0	C9orf174	99114299	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.527000	0.06200	-0.380000	0.07894	-0.140000	0.14226	ACT		0.577	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		72	312	0	0	0	1	0	72	312					T	100074478	C	T	100074478	3	4	79	1	0	0	0	0	1	0	0	0	8270	565	20	2	919	2	KIAA1529	9	100074478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274825	100074478	41138953	10213	20530											
KIAA1529	100499483	broad.mit.edu	37	chr9	100117175	100117175	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttatctctctgtacaggCcaatgatgtcatcaacaagt	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100117175C>A	ENST00000357054.1	+	35	4129	c.3194C>A	c.(3193-3195)gCc>gAc	p.A1065D	CCDC180_ENST00000529487.1_Splice_Site_p.A1094D|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.A1094D|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1065						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCTGTACAGGCCAATGATGTC	0.463																																						ENST00000375202.2																			0											c.e38-1		coiled-coil domain containing 180							77	77	77					9																	100117175		2203	4300	6503	SO:0001630	splice_region_variant	100499483							g.chr9:100117175C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3193-1C>A	9.37:g.100117175C>A						CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Splice_Site_p.A1065_splice|CCDC180_ENST00000529487.1_Splice_Site_p.A1094_splice|RP11-23J9.4_ENST00000534123.1_RNA	p.A1094_splice							38	4633	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37	c.3279_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971473	0.74246	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.13901	2.84;2.55;2.55	4.94	4.94	0.65067	.	0.292508	0.34223	N	0.004152	T	0.34832	0.0911	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01319	-1.1386	10	0.27082	T	0.32	-16.5234	16.475	0.84130	0.0:1.0:0.0:0.0	.	1233;1065	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	D	1065;1094;1094	ENSP00000349562:A1065D;ENSP00000364348:A1094D;ENSP00000434727:A1094D	ENSP00000349562:A1065D	A	+	2	0	C9orf174	99156996	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.740000	0.68629	2.669000	0.90835	0.655000	0.94253	GCC		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	15	405	1	0	5.01169e-05	1	5.1097e-05	15	405					A	100117175	C	A	100117175	5	1	79	1	0	0	0	0	0	0	1	0	8270	753	26	3	3288	3	KIAA1529	9	100117175	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42697	100117175	41096256	10214	20531											
TSTD2	158427	broad.mit.edu	37	chr9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccagcgggctccacaGtatgaacactctggggagga	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1261-1263)taC>taA		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							56	56	56					9																	100365039		2203	4300	6503	SO:0001587	stop_gained	158427							g.chr9:100365039G>T	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1263C>A	9.37:g.100365039G>T	ENSP00000342499:p.Tyr421*					TSTD2_ENST00000375172.2_Nonsense_Mutation_p.Y195*|TSTD2_ENST00000375173.1_Nonsense_Mutation_p.Y17*	p.Y421*	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			10	1645	-			421					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	ENST00000341170.4	37	c.1263C>A	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	44	11.259084	0.99538	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	.	.	.	5.75	3.86	0.44501	.	0.060741	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2467	13.5115	0.61515	0.1371:0.0:0.8629:0.0	.	.	.	.	X	17;195;421	.	ENSP00000342499:Y421X	Y	-	3	2	TSTD2	99404860	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.157000	0.50716	1.550000	0.49438	0.655000	0.94253	TAC		0.512	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		66	250	1	0	1.64573e-32	1	1.94376e-32	66	250					T	100365039	G	T	100365039	4	4	79	1	0	0	0	0	0	1	0	0	16729	1024	36	3	291	3	TSTD2	9	100365039	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247864	100365039	40848392	10215	20532											
FOXE1	2304	broad.mit.edu	37	chr9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccatgctcgccatgctgCcgcttatcccggtgggatag	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	360					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1078-1080)gCc>gTc		forkhead box E1 (thyroid transcription factor 2)							19	21	21					9																	100617275		2183	4268	6451	SO:0001583	missense	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:100617275C>T	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"Forkhead boxes"	3806	protein-coding gene	gene with protein product		602617	"forkhead box E2"	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.1079C>T	9.37:g.100617275C>T	ENSP00000364265:p.Ala360Val						p.A360V	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1740	+		Acute lymphoblastic leukemia(62;0.158)	360					O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	37	c.1079C>T	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005295	0.35415	.	.	ENSG00000178919	ENST00000375123	D	0.93953	-3.32	4.78	3.86	0.44501	.	38.421700	0.01330	U	0.011232	D	0.88235	0.6382	N	0.08118	0	0.20489	N	0.999892	B	0.20052	0.041	B	0.19391	0.025	T	0.76168	-0.3058	10	0.52906	T	0.07	.	12.2963	0.54849	0.171:0.829:0.0:0.0	.	360	O00358	FOXE1_HUMAN	V	360	ENSP00000364265:A360V	ENSP00000364265:A360V	A	+	2	0	FOXE1	99657096	0.933000	0.31639	0.030000	0.17652	0.061000	0.15899	2.731000	0.47343	1.334000	0.45468	0.555000	0.69702	GCC		0.642	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			32	160	0	0	0	1	0	32	160					T	100617275	C	T	100617275	3	4	79	1	0	0	0	0	1	0	0	0	6030	739	26	2	1081	2	FOXE1	9	100617275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252236	100617275	40596156	10216	20533											
HEMGN	55363	broad.mit.edu	37	chr9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttctcgtttagccatatCttggtacattttgaaaggat	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	221					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(661-663)Gat>Tat		hemogen							263	254	257					9																	100693016		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693016C>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.661G>T	9.37:g.100693016C>A	ENSP00000259456:p.Asp221Tyr						p.D221Y	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	804	-		Acute lymphoblastic leukemia(62;0.0559)	221					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.661G>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736471	0.49045	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.82	1.93	0.25924	.	0.819333	0.10544	N	0.662314	T	0.41811	0.1175	L	0.58101	1.795	0.09310	N	1	P	0.41131	0.739	P	0.44394	0.448	T	0.32561	-0.9902	9	0.62326	D	0.03	-1.5525	4.9966	0.14243	0.0:0.6384:0.1729:0.1887	.	221	Q9BXL5	HEMGN_HUMAN	Y	221	.	ENSP00000259456:D221Y	D	-	1	0	HEMGN	99732837	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.222000	0.17699	0.337000	0.23665	0.655000	0.94253	GAT		0.418	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		231	1035	1	0	2.87422e-67	1	3.6404e-67	231	1035					A	100693016	C	A	100693016	3	1	79	1	0	0	0	0	1	0	0	0	7080	913	32	3	801	3	HEMGN	9	100693016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75741	100693016	40520415	10217	20534											
TRIM14	9830	broad.mit.edu	37	chr9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagagcgcgtcgaaccGcagcacgggcacgggcccca	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(910-912)Cgg>Tgg		tripartite motif containing 14							5	6	5					9																	100850171		1831	3641	5472	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100850171G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.910C>T	9.37:g.100850171G>A	ENSP00000344208:p.Arg304Trp					TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000478530.1_5'UTR	p.R304W	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			6	919	-		Acute lymphoblastic leukemia(62;0.0559)	304			B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.910C>T	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086854	0.55861	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.56	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085614	0.45361	D	0.000379	T	0.79958	0.4536	H	0.95294	3.65	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.987;0.994;0.987	D	0.83396	0.0020	10	0.87932	D	0	.	8.7341	0.34516	0.0:0.0:0.6043:0.3957	.	85;82;304;304	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	W	304;304;304;304;85	ENSP00000364239:R304W;ENSP00000344208:R304W;ENSP00000343990:R304W;ENSP00000445355:R85W	ENSP00000344208:R304W	R	-	1	2	TRIM14	99889992	1.000000	0.71417	0.211000	0.23655	0.392000	0.30506	2.273000	0.43381	2.079000	0.62486	0.305000	0.20034	CGG		0.726	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		21	59	0	0	0	1	0	21	59					A	100850171	G	A	100850171	3	1	79	1	0	0	0	0	1	0	0	0	16542	1086	38	1	422	1	TRIM14	9	100850171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157155	100850171	40363260	10218	20535											
TBC1D2	55357	broad.mit.edu	37	chr9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgcagctgtttcatgCggaaggggttcatgtcattg	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGTTTCATGCGGAAGGGGTT	0.632																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2587-2589)cGc>cAc		TBC1 domain family, member 2							136	139	138					9																	100961829		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961829C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2588G>A	9.37:g.100961829C>T	ENSP00000364207:p.Arg863His					TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H	p.R863H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2679	-		Myeloproliferative disorder(762;0.0255)	874					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2588G>A	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996325	0.54147	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08720	3.06;3.48;3.08	5.51	2.54	0.30619	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07818	0.0196	N	0.14661	0.345	0.26248	N	0.978766	D;D	0.57899	0.968;0.981	B;P	0.45449	0.288;0.481	T	0.12528	-1.0544	10	0.66056	D	0.02	.	17.0294	0.86457	0.0:0.5717:0.4283:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	863;656;414	ENSP00000364207:R863H;ENSP00000341567:R656H;ENSP00000364203:R414H	ENSP00000341567:R656H	R	-	2	0	TBC1D2	100001650	1.000000	0.71417	0.075000	0.20258	0.576000	0.36127	3.606000	0.54095	0.218000	0.20820	-0.416000	0.06073	CGC		0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		217	1048	0	0	0	1	0	217	1048					T	100961829	C	T	100961829	3	4	79	1	0	0	0	0	1	0	0	0	15660	768	27	1	169	1	TBC1D2	9	100961829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111658	100961829	40251602	10219	20536											
TBC1D2	55357	broad.mit.edu	37	chr9	100965573	100965573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggccccacttacctgGgatgccgtcagcgtgttgca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375064.1	-	10	2306	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375066.5_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	756	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACTTACCTGGGATGCCGTCA	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2266-2268)tcC>tcT		TBC1 domain family, member 2							125	112	117					9																	100965573		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100965573G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2268C>T	9.37:g.100965573G>A						TBC1D2_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375064.1_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S	p.S756S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	10	2359	-		Myeloproliferative disorder(762;0.0255)	756			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.2268C>T																																																																																					0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		90	491	0	0	0	1	0	90	491					A	100965573	G	A	100965573	2	1	79	1	0	0	0	0	0	0	0	1	15660	1219	43	2		2	TBC1D2	9	100965573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3744	100965573	40247858	10220	20537											
TBC1D2	55357	broad.mit.edu	37	chr9	101017623	101017623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgtcgtagaagaaccaGcgggatttccagccccggat	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375064.1	-	1	239	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.R67R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	67	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAAGAACCAGCGGGATTTCC	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(199-201)cgC>cgT		TBC1 domain family, member 2							73	78	76					9																	101017623		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017623G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.201C>T	9.37:g.101017623G>A						TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Silent_p.R67R	p.R67R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	292	-		Myeloproliferative disorder(762;0.0255)	67			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.201C>T																																																																																					0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		63	334	0	0	0	1	0	63	334					A	101017623	G	A	101017623	2	1	79	1	0	0	0	0	0	0	0	1	15660	958	34	2		2	TBC1D2	9	101017623	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52050	101017623	40195808	10221	20538											
GABBR2	9568	broad.mit.edu	37	chr9	101125090	101125090	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagcagcatgccccccacGatcacaagcagtttctggtc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1798-1800)atC>atT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						90	71	77					9																	101125090		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101125090G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1800C>T	9.37:g.101125090G>A							p.I600I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			13	2259	-		Acute lymphoblastic leukemia(62;0.0527)	600					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.1800C>T	CCDS6736.1																																																																																				0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			9	193	0	0	0	1	0	9	193					A	101125090	G	A	101125090	2	1	79	1	0	0	0	0	0	0	0	1	6183	1048	37	1		1	GABBR2	9	101125090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107467	101125090	40088341	10222	20539											
GABBR2	9568	broad.mit.edu	37	chr9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagggtattttttcttatCggctagaacaggcgtggttg	12	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(493-495)Gat>Aat		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						69	63	65					9																	101304292		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304292C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.493G>A	9.37:g.101304292C>T	ENSP00000259455:p.Asp165Asn					GABBR2_ENST00000477471.1_5'UTR	p.D165N	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			3	952	-		Acute lymphoblastic leukemia(62;0.0527)	165					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.493G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	GABBR2	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT		0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			57	188	0	0	0	1	0	57	188					T	101304292	C	T	101304292	3	4	79	1	0	0	0	0	1	0	0	0	6183	884	31	1	2400	1	GABBR2	9	101304292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179202	101304292	39909139	10223	20540											
GABBR2	9568	broad.mit.edu	37	chr9	101340265	101340265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaatgatggatgtgacGgatggacagacgcctccaaa	12	9	1	3	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	137					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(409-411)tcC>tcT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)			0,4406		0,0,2203	210	195	200		411	-9.2	0.6	9	dbSNP_129	200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/942	101340265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101340265G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.411C>T	9.37:g.101340265G>A							p.S137S	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			2	870	-		Acute lymphoblastic leukemia(62;0.0527)	137					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.411C>T	CCDS6736.1																																																																																				0.512	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			53	245	0	0	0	1	0	53	245					A	101340265	G	A	101340265	2	1	79	1	0	0	0	0	0	0	0	1	6183	1103	39	1		1	GABBR2	9	101340265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35973	101340265	39873166	10224	20541											
ANKS6	203286	broad.mit.edu	37	chr9	101518814	101518814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggtgagggggagggCgtgagggttggagaggtgct	23	4	0	3	rs199761692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000353234.4	-	12	2261	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	738	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16545	0.0		0.001	False		,,,				2504	0.0					ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2212-2214)acG>acA		ankyrin repeat and sterile alpha motif domain containing 6		C		0,4052		0,0,2026	100	108	105		2214	-10.7	0.5	9		105	4,8344		0,4,4170	no	coding-synonymous	ANKS6	NM_173551.3		0,4,6196	TT,TC,CC		0.0479,0.0,0.0323		738/872	101518814	4,12396	2026	4174	6200	SO:0001819	synonymous_variant	203286							g.chr9:101518814C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2214G>A	9.37:g.101518814C>T						ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000540940.1_Silent_p.T543T	p.T738T			Q68DC2	ANKS6_HUMAN			12	2261	-		Acute lymphoblastic leukemia(62;0.0527)	738			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.2214G>A	CCDS43856.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	8.376	0.836505	0.16891	0.0	4.79E-4	ENSG00000165138	ENST00000444472	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	-16.4068	5.6656	0.17693	0.1426:0.5694:0.1748:0.1131	.	.	.	.	T	208	.	.	A	-	1	0	ANKS6	100558635	0.000000	0.05858	0.506000	0.27664	0.876000	0.50452	-3.351000	0.00501	-2.143000	0.00803	-0.350000	0.07774	GCC		0.552	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		72	271	0	0	0	1	0	72	271					T	101518814	C	T	101518814	2	4	79	1	0	0	0	0	0	0	0	1	692	755	27	1		1	ANKS6	9	101518814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178549	101518814	39694617	10225	20542											
ANKS6	203286	broad.mit.edu	37	chr9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccgttgtgacgcgtccGggaccgatcagagctccaca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000353234.4	-	9	1773	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	576						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1726-1728)Cgg>Tgg		ankyrin repeat and sterile alpha motif domain containing 6							42	48	46					9																	101536254		1935	4139	6074	SO:0001583	missense	203286							g.chr9:101536254G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1726C>T	9.37:g.101536254G>A	ENSP00000297837:p.Arg576Trp					ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W	p.R576W			Q68DC2	ANKS6_HUMAN			9	1773	-		Acute lymphoblastic leukemia(62;0.0527)	576					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1726C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584812|3.584812	0.65992|0.65992	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.74315	.|1.34;-0.82;-0.83;1.59	5.48|5.48	2.3|2.3	0.28687|0.28687	.|.	.|0.176999	.|0.48767	.|D	.|0.000176	T|T	0.79341|0.79341	0.4429|0.4429	M|M	0.63843|0.63843	1.955|1.955	0.32320|0.32320	N|N	0.562519|0.562519	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56916	.|0.809;0.65	D|D	0.83447|0.83447	0.0046|0.0046	5|10	.|0.87932	.|D	.|0	-8.574|-8.574	12.0034|12.0034	0.53243|0.53243	0.0:0.0:0.3685:0.6315|0.0:0.0:0.3685:0.6315	.|.	.|576;576	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|W	44|275;576;576;381	.|ENSP00000364159:R275W;ENSP00000364158:R576W;ENSP00000297837:R576W;ENSP00000442189:R381W	.|ENSP00000297837:R576W	P|R	-|-	2|1	0|2	ANKS6|ANKS6	100576075|100576075	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.591000|0.591000	0.36615|0.36615	3.055000|3.055000	0.49916|0.49916	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.642	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		64	303	0	0	0	1	0	64	303					A	101536254	G	A	101536254	3	1	79	1	0	0	0	0	1	0	0	0	692	1115	39	1	917	1	ANKS6	9	101536254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17440	101536254	39677177	10226	20543											
ANKS6	203286	broad.mit.edu	37	chr9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgaggggagctccgtttcGaagctgaaaaagacaggctg	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1621-1623)Cga>Tga		ankyrin repeat and sterile alpha motif domain containing 6							30	35	33					9																	101536359		1896	4122	6018	SO:0001587	stop_gained	203286							g.chr9:101536359G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1621C>T	9.37:g.101536359G>A	ENSP00000297837:p.Arg541*					ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*	p.R541*			Q68DC2	ANKS6_HUMAN			9	1668	-		Acute lymphoblastic leukemia(62;0.0527)	541					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Nonsense_Mutation	SNP	ENST00000353234.4	37	c.1621C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	ANKS6|ANKS6	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		30	177	0	0	0	1	0	30	177					A	101536359	G	A	101536359	4	1	79	1	0	0	0	0	0	1	0	0	692	1066	37	1	1022	1	ANKS6	9	101536359	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	101536359	39677072	10227	20544											
ANKS6	203286	broad.mit.edu	37	chr9	101552487	101552487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttctccagcacgctgAggtggtcagggttggcgccc	15	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101552487A>G	ENST00000353234.4	-	2	808	c.761T>C	c.(760-762)cTc>cCc	p.L254P	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	254						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCACGCTGAGGTGGTCAGG	0.657																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(760-762)cTc>cCc		ankyrin repeat and sterile alpha motif domain containing 6							70	75	73					9																	101552487		2137	4255	6392	SO:0001583	missense	203286							g.chr9:101552487A>G	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.761T>C	9.37:g.101552487A>G	ENSP00000297837:p.Leu254Pro					ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P|ANKS6_ENST00000471846.1_5'UTR	p.L254P			Q68DC2	ANKS6_HUMAN			2	808	-		Acute lymphoblastic leukemia(62;0.0527)	254					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.761T>C	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.64260	0.59;0.59;-0.09	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.255608	0.37219	N	0.002190	T	0.62575	0.2439	N	0.16166	0.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69824	0.966	T	0.62618	-0.6816	10	0.29301	T	0.29	-18.4596	13.5146	0.61533	1.0:0.0:0.0:0.0	.	254	Q68DC2	ANKS6_HUMAN	P	254;254;59	ENSP00000364158:L254P;ENSP00000297837:L254P;ENSP00000442189:L59P	ENSP00000297837:L254P	L	-	2	0	ANKS6	100592308	1.000000	0.71417	0.987000	0.45799	0.775000	0.43874	6.096000	0.71446	2.079000	0.62486	0.459000	0.35465	CTC		0.657	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		12	388	0	0	0	1	0	12	388					G	101552487	A	G	101552487	3	3	79	1	0	0	0	0	1	0	0	0	692	304	11	4	1910	4	ANKS6	9	101552487	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16128	101552487	39660944	10228	20545											
COL15A1	1306	broad.mit.edu	37	chr9	101747863	101747863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagactgcttcccagggTcacctggacctcacgcagct	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	39					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCAGGGTCACCTGGACC	0.557																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(115-117)ggT>ggC		collagen, type XV, alpha 1							61	57	59					9																	101747863		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101747863T>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.117T>C	9.37:g.101747863T>C							p.G39G	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	540	+		Acute lymphoblastic leukemia(62;0.0562)	39					Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.117T>C	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	139	0	0	0	1	0	25	139					C	101747863	T	C	101747863	2	2	79	1	0	0	0	0	0	0	0	1	3681	1654	58	4		4	COL15A1	9	101747863	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	195376	101747863	39465568	10229	20546											
COL15A1	1306	broad.mit.edu	37	chr9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccatgtgtcccaagaGgctgctgccttctcggtgcc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	148	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTCCCAAGAGGCTGCTGCCT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(442-444)gaG>gaT		collagen, type XV, alpha 1							109	102	104					9																	101748190		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748190G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.444G>T	9.37:g.101748190G>T	ENSP00000364140:p.Glu148Asp						p.E148D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	867	+		Acute lymphoblastic leukemia(62;0.0562)	148			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.444G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377008	0.42105	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73258	-0.73	5.25	2.34	0.29019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.288347	0.37261	N	0.002174	T	0.79311	0.4424	M	0.79475	2.455	0.33746	D	0.620079	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.992	T	0.79017	-0.1975	10	0.19147	T	0.46	-12.1142	8.0718	0.30693	0.3319:0.0:0.6681:0.0	.	148;118	P39059;B3KTP7	COFA1_HUMAN;.	D	148;118	ENSP00000364140:E148D	ENSP00000364140:E148D	E	+	3	2	COL15A1	100788011	0.660000	0.27420	0.955000	0.39395	0.740000	0.42216	-0.118000	0.10692	0.280000	0.22209	0.650000	0.86243	GAG		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		59	589	1	0	3.84483e-29	1	4.48846e-29	59	589					T	101748190	G	T	101748190	3	4	79	1	0	0	0	0	1	0	0	0	3681	991	35	3	454	3	COL15A1	9	101748190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	101748190	39465241	10230	20547											
COL15A1	1306	broad.mit.edu	37	chr9	101782700	101782700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgtgggaatgaaaggAcaggctgggcccaaaggaga	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	559	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGAAAGGACAGGCTGGGC	0.453																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1675-1677)ggA>ggG		collagen, type XV, alpha 1							148	129	135					9																	101782700		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101782700A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1677A>G	9.37:g.101782700A>G							p.G559G	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			12	2100	+		Acute lymphoblastic leukemia(62;0.0562)	559			Triple-helical region 1 (COL1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1677A>G	CCDS35081.1																																																																																				0.453	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		35	212	0	0	0	1	0	35	212					G	101782700	A	G	101782700	2	3	79	1	0	0	0	0	0	0	0	1	3681	262	10	4		4	COL15A1	9	101782700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34510	101782700	39430731	10231	20548											
COL15A1	1306	broad.mit.edu	37	chr9	101798455	101798455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtttatttttccagggtCtcaaaggagagaaaggagac	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101798455C>A	ENST00000375001.3	+	20	2716	c.2293C>A	c.(2293-2295)Ctc>Atc	p.L765I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	765	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCAGGGTCTCAAAGGAGA	0.488																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2293-2295)Ctc>Atc		collagen, type XV, alpha 1							68	88	81					9																	101798455		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101798455C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2293C>A	9.37:g.101798455C>A	ENSP00000364140:p.Leu765Ile						p.L765I	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			20	2716	+		Acute lymphoblastic leukemia(62;0.0562)	765			Triple-helical region 3 (COL3).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2293C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725569	0.30593	.	.	ENSG00000204291	ENST00000375001	D	0.89939	-2.59	5.39	4.25	0.50352	.	0.594292	0.17700	N	0.164965	T	0.79034	0.4378	L	0.31371	0.925	0.09310	N	0.999995	B	0.29909	0.261	B	0.26416	0.069	T	0.63730	-0.6571	10	0.21540	T	0.41	-0.692	6.8826	0.24181	0.0:0.8497:0.0:0.1503	.	765	P39059	COFA1_HUMAN	I	765	ENSP00000364140:L765I	ENSP00000364140:L765I	L	+	1	0	COL15A1	100838276	0.928000	0.31464	0.997000	0.53966	0.819000	0.46315	1.602000	0.36783	2.676000	0.91093	0.655000	0.94253	CTC		0.488	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		17	396	1	0	5.03518e-11	1	5.3609e-11	17	396					A	101798455	C	A	101798455	3	1	79	1	0	0	0	0	1	0	0	0	3681	913	32	3	2371	3	COL15A1	9	101798455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15755	101798455	39414976	10232	20549											
TGFBR1	7046	broad.mit.edu	37	chr9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagctctggttggtgtcaGattatcatgagcatggatcc	11	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(841-843)Gat>Aat		transforming growth factor, beta receptor 1							197	169	179					9																	101904853		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101904853G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.841G>A	9.37:g.101904853G>A	ENSP00000364133:p.Asp281Asn					TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N	p.D281N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			5	958	+		Acute lymphoblastic leukemia(62;0.0559)	281			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.841G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598606	0.96614	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62740	0.906;0.866	D	0.98016	1.0368	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	204;281	P36897-3;P36897	.;TGFR1_HUMAN	N	281;281;204;285;212	ENSP00000364133:D281N;ENSP00000364129:D204N;ENSP00000447297:D285N;ENSP00000450052:D212N	ENSP00000364129:D204N	D	+	1	0	TGFBR1	100944674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	GAT		0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			37	425	0	0	0	1	0	37	425					A	101904853	G	A	101904853	3	1	79	1	0	0	0	0	1	0	0	0	15873	942	33	2	859	2	TGFBR1	9	101904853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106398	101904853	39308578	10233	20550											
NR4A3	8013	broad.mit.edu	37	chr9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaactcaagccttcctgcGtgtaccaaatgcagcggccc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000395097.2	+	3	955	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	NR4A3_ENST00000330847.1_Missense_Mutation_p.V87M|NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	76					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(259-261)Gtg>Atg		nuclear receptor subfamily 4, group A, member 3							95	80	85					9																	102590550		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590550G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.226G>A	9.37:g.102590550G>A	ENSP00000378531:p.Val76Met					NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M|NR4A3_ENST00000395097.2_Missense_Mutation_p.V76M	p.V87M			Q92570	NR4A3_HUMAN			2	303	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	76					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.259G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514878	0.44763	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.76;-2.33;-2.78	5.47	2.57	0.30868	.	3.416260	0.01217	N	0.007998	T	0.81659	0.4869	N	0.08118	0	0.28909	N	0.892828	B;B;B	0.31459	0.117;0.071;0.324	B;B;B	0.23716	0.048;0.022;0.048	T	0.73503	-0.3962	10	0.72032	D	0.01	.	7.4995	0.27509	0.0:0.5911:0.2697:0.1391	.	87;76;76	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	76;76;87	ENSP00000378531:V76M;ENSP00000340301:V76M;ENSP00000333122:V87M	ENSP00000333122:V87M	V	+	1	0	NR4A3	101630371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.037000	0.30241	0.341000	0.23771	-0.357000	0.07601	GTG		0.602	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			60	336	0	0	0	1	0	60	336					A	102590550	G	A	102590550	3	1	79	1	0	0	0	0	1	0	0	0	10676	1145	40	1	265	1	NR4A3	9	102590550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685697	102590550	38622881	10234	20551											
NR4A3	8013	broad.mit.edu	37	chr9	102595604	102595604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggaggagaggtcgtctGccttccaaaccaaagagccc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000395097.2	+	5	1851	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	NR4A3_ENST00000330847.1_Silent_p.L385L|NR4A3_ENST00000338488.4_Silent_p.L374L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1153-1155)ctG>ctA		nuclear receptor subfamily 4, group A, member 3							199	172	182					9																	102595604		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102595604G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1122G>A	9.37:g.102595604G>A						NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000395097.2_Silent_p.L374L	p.L385L			Q92570	NR4A3_HUMAN			4	1199	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	374					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.1155G>A	CCDS6743.1																																																																																				0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			65	342	0	0	0	1	0	65	342					A	102595604	G	A	102595604	2	1	79	1	0	0	0	0	0	0	0	1	10676	1306	46	2		2	NR4A3	9	102595604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5054	102595604	38617827	10235	20552											
ERP44	23071	broad.mit.edu	37	chr9	102747327	102747327	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaatgtaagtcaaatacGaattgcttgagttttccagg	9	7	1	2	rs572046036	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	347					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGTCAAATACGAATTGCTTGA	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.002					ENST00000262455.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(1039-1041)ttC>ttT		endoplasmic reticulum protein 44							90	86	88					9																	102747327		2203	4300	6503	SO:0001819	synonymous_variant	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102747327G>A	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1041C>T	9.37:g.102747327G>A							p.F347F	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN			11	1240	-			347					O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	ENST00000262455.6	37	c.1041C>T	CCDS35082.1																																																																																				0.363	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		28	122	0	0	0	1	0	28	122					A	102747327	G	A	102747327	2	1	79	1	0	0	0	0	0	0	0	1	5261	1049	37	1		1	ERP44	9	102747327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151723	102747327	38466104	10236	20553											
C9orf30	91283	broad.mit.edu	37	chr9	103204445	103204445	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagctgaagaagtgctgggaGaacatcaaggctcggaccaa	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204445G>T	ENST00000395067.2	+	2	496	c.225G>T	c.(223-225)gaG>gaT	p.E75D	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_ENST00000502978.1_5'Flank|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	75	Myb-like.									endometrium(2)|lung(2)	4						AGTGCTGGGAGAACATCAAGG	0.547																																						ENST00000395067.2																			0				endometrium(2)|lung(2)	4						c.(223-225)gaG>gaT		Myb/SANT-like DNA-binding domain containing 3							37	37	37					9																	103204445		2203	4300	6503	SO:0001583	missense	91283							g.chr9:103204445G>T	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.225G>T	9.37:g.103204445G>T	ENSP00000378506:p.Glu75Asp					MSANTD3_ENST00000374885.1_Missense_Mutation_p.E75D|MSANTD3_ENST00000489377.1_3'UTR	p.E75D	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1					2	496	+								B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.225G>T	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543878	0.65198	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.92	3.78	0.43462	.	.	.	.	.	T	0.52869	0.1761	L	0.33710	1.025	0.36907	D	0.890696	D	0.63046	0.992	D	0.74348	0.983	T	0.55679	-0.8103	8	0.19590	T	0.45	-13.1716	4.6007	0.12352	0.4492:0.0:0.5508:0.0	.	75	Q96H12	CI030_HUMAN	D	75	.	ENSP00000364020:E75D	E	+	3	2	C9orf30	102244266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.408000	0.34668	1.366000	0.46076	0.655000	0.94253	GAG		0.547	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		19	204	1	0	1.56452e-12	1	1.68123e-12	19	204					T	103204445	G	T	103204445	3	4	79	1	0	0	0	0	1	0	0	0	2485	933	33	3	227	3	C9orf30	9	103204445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457118	103204445	38008986	10237	20554											
C9orf30	91283	broad.mit.edu	37	chr9	103204553	103204553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctagggaaggagaagatCgccagcatgctgccggagca	15	10	0	2	rs191944797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204553C>T	ENST00000395067.2	+	2	604	c.333C>T	c.(331-333)atC>atT	p.I111I	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Silent_p.I111I|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R1C|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	111								p.I111I(1)		endometrium(2)|lung(2)	4						AGGAGAAGATCGCCAGCATGC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15175	0.0		0.0	False		,,,				2504	0.0					ENST00000502978.1																			1	Substitution - coding silent(1)	p.I111I(1)	large_intestine(1)								c.(1-3)Cgc>Tgc									42	40	41					9																	103204553		2203	4300	6503	SO:0001819	synonymous_variant	0				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103204553C>T	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.333C>T	9.37:g.103204553C>T						MSANTD3_ENST00000395067.2_Silent_p.I111I|MSANTD3_ENST00000374885.1_Silent_p.I111I|MSANTD3_ENST00000489377.1_3'UTR	p.R1C	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN			1	1	+			0					B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.1C>T	CCDS6749.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.48	3.835139	0.71373	.	.	ENSG00000251349	ENST00000502978	.	.	.	5.92	-7.28	0.01456	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.46336	D	0.998998	.	.	.	.	.	.	T	0.59526	-0.7438	4	.	.	.	-7.9668	12.0214	0.53346	0.0:0.2342:0.0891:0.6767	.	.	.	.	C	1	.	.	R	+	1	0	C9orf30-TMEFF1	102244374	0.225000	0.23685	0.031000	0.17742	0.984000	0.73092	-0.948000	0.03897	-1.466000	0.01897	-0.302000	0.09304	CGC		0.582	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		77	256	0	0	0	1	0	77	256					T	103204553	C	T	103204553	2	4	79	1	0	0	0	0	0	0	0	1	2485	874	31	1		1	C9orf30	9	103204553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108	103204553	38008878	10238	20555											
C9orf30	91283	broad.mit.edu	37	chr9	103212948	103212948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtgttcagctgtcagAataacagccaataaaaacta	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103212948A>C	ENST00000395067.2	+	3	799	c.528A>C	c.(526-528)agA>agC	p.R176S	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	176										endometrium(2)|lung(2)	4						CAGCTGTCAGAATAACAGCCA	0.413																																						ENST00000395067.2																			0				endometrium(2)|lung(2)	4						c.(526-528)agA>agC		Myb/SANT-like DNA-binding domain containing 3							58	55	56					9																	103212948		2203	4300	6503	SO:0001583	missense	91283							g.chr9:103212948A>C	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.528A>C	9.37:g.103212948A>C	ENSP00000378506:p.Arg176Ser					MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3_ENST00000489377.1_3'UTR	p.R176S	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1					3	799	+								B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.528A>C	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239398	0.39598	.	.	ENSG00000066697	ENST00000395067;ENST00000374886	.	.	.	5.55	1.78	0.24846	.	.	.	.	.	T	0.25938	0.0632	N	0.22421	0.69	0.80722	D	1	P	0.41232	0.743	B	0.26094	0.066	T	0.06625	-1.0816	8	0.87932	D	0	-6.9505	9.221	0.37377	0.7846:0.0:0.2154:0.0	.	176	Q96H12	CI030_HUMAN	S	176	.	ENSP00000364021:R176S	R	+	3	2	C9orf30	102252769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.139000	0.42149	0.374000	0.24650	0.383000	0.25322	AGA		0.413	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		38	170	0	0	0	1	0	38	170					C	103212948	A	C	103212948	3	2	79	1	0	0	0	0	1	0	0	0	2485	243	9	4	534	4	C9orf30	9	103212948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8395	103212948	38000483	10239	20556											
TMEFF1	8577	broad.mit.edu	37	chr9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatgatggactacaaTatcgaccagatgtgaaaggt	11	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	253					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGACTACAATATCGACCAGA	0.353																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(757-759)Tat>Cat		transmembrane protein with EGF-like and two follistatin-like domains 1							128	120	122					9																	103312424		2203	4300	6503	SO:0001583	missense	8577							g.chr9:103312424T>C	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.757T>C	9.37:g.103312424T>C	ENSP00000364013:p.Tyr253His					MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H	p.Y253H	NM_003692.4	NP_003683.2					7	1189	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	c.757T>C	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.102245|2.102245	0.37145|0.37145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.58060	.|0.39;0.36	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.341708	.|0.31624	.|N	.|0.007334	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.36267|0.36267	D|D	0.854935|0.854935	.|P;P	.|0.41366	.|0.747;0.545	.|B;B	.|0.42738	.|0.396;0.149	T|T	0.40478|0.40478	-0.9561|-0.9561	5|10	.|0.16420	.|T	.|0.52	-36.4037|-36.4037	9.3072|9.3072	0.37883|0.37883	0.1602:0.0:0.0:0.8398|0.1602:0.0:0.0:0.8398	.|.	.|253;214	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	T|H	216|214;253	.|ENSP00000334447:Y214H;ENSP00000364013:Y253H	.|ENSP00000334447:Y214H	I|Y	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102352245|102352245	0.999000|0.999000	0.42202|0.42202	0.949000|0.949000	0.38748|0.38748	0.979000|0.979000	0.70002|0.70002	3.771000|3.771000	0.55318|0.55318	2.182000|2.182000	0.69389|0.69389	0.477000|0.477000	0.44152|0.44152	ATA|TAT		0.353	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		55	251	0	0	0	1	0	55	251					C	103312424	T	C	103312424	3	2	79	1	0	0	0	0	1	0	0	0	16065	1406	49	4	783	4	TMEFF1	9	103312424	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	99476	103312424	37901007	10240	20557											
LPPR1	54886	broad.mit.edu	37	chr9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaacaatgggaacatttgTactggggacctggaagtgat	12	5	0	1	rs139319180	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		182					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GGAACATTTGTACTGGGGACC	0.507																																						ENST00000374874.3																			0											c.(544-546)tgT>tgG									91	86	88					9																	104071653		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104071653T>G																												ENST00000374874.3:c.546T>G	9.37:g.104071653T>G	ENSP00000364008:p.Cys182Trp					LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			5	985	+			182					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.546T>G	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765742	0.69878	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.76968	-1.06;-1.06	5.32	-8.08	0.01094	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90954	0.4807	10	0.87932	D	0	-6.3471	21.8754	0.99962	0.0:0.8477:0.0:0.1523	.	166;182	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	W	182	ENSP00000364008:C182W;ENSP00000378496:C182W	ENSP00000364005:C182W	C	+	3	2	RP11-35N6.1	103111474	0.934000	0.31675	0.180000	0.23079	0.970000	0.65996	0.094000	0.15107	-1.516000	0.01782	-0.353000	0.07706	TGT		0.507	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			58	356	0	0	0	1	0	58	356					G	104071653	T	G	104071653	3	3	79	1	0	0	0	0	1	0	0	0	8962	1644	57	4	560	4	LPPR1	9	104071653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759229	104071653	37141778	10241	20558											
BAAT	570	broad.mit.edu	37	chr9	104124866	104124866	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcacagaggagaataGggaggttctatcaggtggcc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000395051.3	-	3	1171	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000259407.2_Silent_p.P367P			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	367					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1099-1101)ccC>ccA		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						213	182	193					9																	104124866		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104124866G>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1101C>A	9.37:g.104124866G>T						BAAT_ENST00000395051.3_Silent_p.P367P	p.P367P	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			4	1209	-		Acute lymphoblastic leukemia(62;0.0559)	367					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.1101C>A	CCDS6752.1																																																																																				0.547	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			57	224	1	0	4.17463e-26	1	4.80398e-26	57	224					T	104124866	G	T	104124866	2	4	79	1	0	0	0	0	0	0	0	1	1281	987	35	3		3	BAAT	9	104124866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53213	104124866	37088565	10242	20559											
BAAT	570	broad.mit.edu	37	chr9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgactggctaggaggCtggcccgaaattcaagcagc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000395051.3	-	2	606	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000259407.2_Missense_Mutation_p.S179N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	179					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(535-537)aGc>aAc		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						58	57	58					9																	104130535		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104130535C>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.536G>A	9.37:g.104130535C>T	ENSP00000378491:p.Ser179Asn					BAAT_ENST00000395051.3_Missense_Mutation_p.S179N	p.S179N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			3	644	-		Acute lymphoblastic leukemia(62;0.0559)	179					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.536G>A	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601316	0.46423	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.47	4.47	0.54385	.	0.075012	0.56097	D	0.000039	T	0.71091	0.3299	M	0.92738	3.34	0.34653	D	0.721905	D	0.89917	1.0	D	0.74348	0.983	D	0.84447	0.0586	10	0.87932	D	0	-14.1565	14.709	0.69215	0.0:1.0:0.0:0.0	.	179	Q14032	BAAT_HUMAN	N	179	ENSP00000259407:S179N;ENSP00000378491:S179N	ENSP00000259407:S179N	S	-	2	0	BAAT	103170356	0.041000	0.20044	0.970000	0.41538	0.167000	0.22549	3.001000	0.49488	2.328000	0.79073	0.561000	0.74099	AGC		0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			62	250	0	0	0	1	0	62	250					T	104130535	C	T	104130535	3	4	79	1	0	0	0	0	1	0	0	0	1281	797	28	2	728	2	BAAT	9	104130535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5669	104130535	37082896	10243	20560											
ZNF189	7743	broad.mit.edu	37	chr9	104170227	104170227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgttttgaacagagaTaaggatgaggagccaactgt	12	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000339664.2	+	3	306	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZNF189_ENST00000374861.3_Silent_p.D45D|ZNF189_ENST00000259395.4_Silent_p.D17D	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAACAGAGATAAGGATGAGG	0.358																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(133-135)gaT>gaC		zinc finger protein 189							51	54	53					9																	104170227		2202	4300	6502	SO:0001819	synonymous_variant	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170227T>C	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.177T>C	9.37:g.104170227T>C						ZNF189_ENST00000339664.2_Silent_p.D59D|ZNF189_ENST00000259395.4_Silent_p.D17D	p.D45D	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	419	+		Acute lymphoblastic leukemia(62;0.0559)	59			KRAB.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	c.135T>C	CCDS6754.1																																																																																				0.358	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		13	81	0	0	0	1	0	13	81					C	104170227	T	C	104170227	2	2	79	1	0	0	0	0	0	0	0	1	17807	1403	49	4		4	ZNF189	9	104170227	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39692	104170227	37043204	10244	20561											
ZNF189	7743	broad.mit.edu	37	chr9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccttgttaaacatcaaaGgattcatacaggtgagaaac	9	7	2	1	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000339664.2	+	3	884	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF189_ENST00000374861.3_Missense_Mutation_p.R238M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	252					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACATCAAAGGATTCATACA	0.423																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(712-714)aGg>aTg		zinc finger protein 189		G	MET/ARG,MET/ARG	1,4405	2.1+/-5.4	0,1,2202	184	189	187		755,629	4.7	1	9	dbSNP_134	187	0,8600		0,0,4300	no	missense,missense	ZNF189	NM_003452.2,NM_197977.1	91,91	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	252/627,210/585	104170805	1,13005	2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170805G>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.755G>T	9.37:g.104170805G>T	ENSP00000342019:p.Arg252Met					ZNF189_ENST00000339664.2_Missense_Mutation_p.R252M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	p.R238M	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	997	+		Acute lymphoblastic leukemia(62;0.0559)	252					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.713G>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669524	0.47677	2.27E-4	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.02472	4.28;4.28;4.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.13072	0.0317	M	0.63428	1.95	0.38357	D	0.944495	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.978;0.977	T	0.00197	-1.1930	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	237;238;252	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	M	238;252;210	ENSP00000363995:R238M;ENSP00000342019:R252M;ENSP00000259395:R210M	ENSP00000259395:R210M	R	+	2	0	ZNF189	103210626	0.035000	0.19736	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.882000	0.98803	0.655000	0.94253	AGG		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		216	928	1	0	9.62737e-85	1	1.23358e-84	216	928					T	104170805	G	T	104170805	3	4	79	1	0	0	0	0	1	0	0	0	17807	1000	35	3	765	3	ZNF189	9	104170805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	578	104170805	37042626	10245	20562											
ALDOB	229	broad.mit.edu	37	chr9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacagattcatctgcagCcaggatcccctttccattgg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	32					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(94-96)Gct>Act		aldolase B, fructose-bisphosphate							110	96	100					9																	104193076		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104193076C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.94G>A	9.37:g.104193076C>T	ENSP00000363988:p.Ala32Thr					ALDOB_ENST00000468981.2_5'UTR	p.A32T	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			2	218	-		Acute lymphoblastic leukemia(62;0.0559)	32					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.94G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243158	0.95272	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.93547	-3.24	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.82433	2.59	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.96813	0.9598	10	0.62326	D	0.03	-18.5194	19.045	0.93016	0.0:1.0:0.0:0.0	.	32	P05062	ALDOB_HUMAN	T	32	ENSP00000363988:A32T	ENSP00000363988:A32T	A	-	1	0	ALDOB	103232897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT		0.428	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			46	203	0	0	0	1	0	46	203					T	104193076	C	T	104193076	3	4	79	1	0	0	0	0	1	0	0	0	508	739	26	2	1032	2	ALDOB	9	104193076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22271	104193076	37020355	10246	20563											
C9orf125	84302	broad.mit.edu	37	chr9	104238223	104238223	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagcccgatgtgtttcacGaggttcggctccactacata	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104238223G>A	ENST00000374851.1	-	4	2299	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L|TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	384						integral component of membrane (GO:0016021)											TGTGTTTCACGAGGTTCGGCT	0.542																																						ENST00000374851.1																			0											c.(1150-1152)ctC>ctT		transmembrane protein 246							100	95	97					9																	104238223		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238223G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1152C>T	9.37:g.104238223G>A						RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L	p.L384L			Q9BRR3	CI125_HUMAN			4	2299	-			384					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1152C>T	CCDS6757.1																																																																																				0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		58	314	0	0	0	1	0	58	314					A	104238223	G	A	104238223	2	1	79	1	0	0	0	0	0	0	0	1	2461	1045	37	1		1	C9orf125	9	104238223	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45147	104238223	36975208	10247	20564											
RNF20	56254	broad.mit.edu	37	chr9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctgcaggaacgtgtgGagtcttcccgccgagccgtg	14	13	2	0	rs567126384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	179					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAACGTGTGGAGTCTTCCCG	0.517																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(535-537)Gag>Aag		ring finger protein 20, E3 ubiquitin protein ligase							68	73	71					9																	104303164		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104303164G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.535G>A	9.37:g.104303164G>A	ENSP00000373772:p.Glu179Lys						p.E179K	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	5	625	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	179					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.535G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852273	0.71719	.	.	ENSG00000155827	ENST00000389120;ENST00000374819	T	0.79247	-1.25	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87856	0.2661	10	0.66056	D	0.02	-18.7071	17.0518	0.86521	0.0:0.0:1.0:0.0	.	179	Q5VTR2	BRE1A_HUMAN	K	179	ENSP00000373772:E179K	ENSP00000363952:E179K	E	+	1	0	RNF20	103342985	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.540000	0.82074	2.439000	0.82584	0.455000	0.32223	GAG		0.517	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		63	354	0	0	0	1	0	63	354					A	104303164	G	A	104303164	3	1	79	1	0	0	0	0	1	0	0	0	13523	1175	41	2	549	2	RNF20	9	104303164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64941	104303164	36910267	10248	20565											
GRIN3A	116443	broad.mit.edu	37	chr9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctcggacagttccaAagcggaatccttgggaagga	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	794					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GACAGTTCCAAAGCGGAATCC	0.363																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2380-2382)tTt>tGt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						96	86	90					9																	104390655		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104390655A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2381T>G	9.37:g.104390655A>C	ENSP00000355155:p.Phe794Cys						p.F794C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			4	2981	-		Acute lymphoblastic leukemia(62;0.0568)	794					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2381T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52749	-0.8534	10	0.49607	T	0.09	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	794	Q8TCU5	NMD3A_HUMAN	C	794	ENSP00000355155:F794C	ENSP00000355155:F794C	F	-	2	0	GRIN3A	103430476	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	TTT		0.363	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			54	226	0	0	0	1	0	54	226					C	104390655	A	C	104390655	3	2	79	1	0	0	0	0	1	0	0	0	6813	14	1	4	990	4	GRIN3A	9	104390655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87491	104390655	36822776	10249	20566											
GRIN3A	116443	broad.mit.edu	37	chr9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcactaagatgcccaAgctggtggagaagaaagggc	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	653					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAGATGCCCAAGCTGGTGGAG	0.537																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1957-1959)Ttg>Gtg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						76	79	78					9																	104432737		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432737A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1957T>G	9.37:g.104432737A>C	ENSP00000355155:p.Leu653Val						p.L653V	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2557	-		Acute lymphoblastic leukemia(62;0.0568)	653					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1957T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134427	0.56828	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.63	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000004	T	0.55862	0.1947	L	0.41961	1.31	0.53688	D	0.99997	P	0.47191	0.891	P	0.59825	0.864	T	0.54098	-0.8344	10	0.46703	T	0.11	.	11.7737	0.51972	0.931:0.0:0.069:0.0	.	653	Q8TCU5	NMD3A_HUMAN	V	653	ENSP00000355155:L653V	ENSP00000355155:L653V	L	-	1	2	GRIN3A	103472558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	1.084000	0.41184	0.473000	0.43528	TTG		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			87	325	0	0	0	1	0	87	325					C	104432737	A	C	104432737	3	2	79	1	0	0	0	0	1	0	0	0	6813	69	3	4	1418	4	GRIN3A	9	104432737	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42082	104432737	36780694	10250	20567											
GRIN3A	116443	broad.mit.edu	37	chr9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttgatgatagaaccaaGgtggaacttggaattattct	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	291					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATAGAACCAAGGTGGAACTTG	0.483																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(871-873)Ctt>Att		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						148	132	138					9																	104449311		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449311G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.871C>A	9.37:g.104449311G>T	ENSP00000355155:p.Leu291Ile						p.L291I	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1471	-		Acute lymphoblastic leukemia(62;0.0568)	291					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.871C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238174	0.58886	.	.	ENSG00000198785	ENST00000361820	T	0.12147	2.71	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.15782	0.0380	L	0.59436	1.845	0.52501	D	0.999952	B	0.29988	0.264	B	0.28011	0.085	T	0.02958	-1.1089	10	0.23891	T	0.37	.	14.2897	0.66268	0.0706:0.0:0.9294:0.0	.	291	Q8TCU5	NMD3A_HUMAN	I	291	ENSP00000355155:L291I	ENSP00000355155:L291I	L	-	1	0	GRIN3A	103489132	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.603000	0.46266	2.759000	0.94783	0.557000	0.71058	CTT		0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			63	402	1	0	4.73848e-44	1	5.79357e-44	63	402					T	104449311	G	T	104449311	3	4	79	1	0	0	0	0	1	0	0	0	6813	1000	35	3	2508	3	GRIN3A	9	104449311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	104449311	36764120	10251	20568											
CYLC2	1539	broad.mit.edu	37	chr9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaggagatcgtagacaAccattatggatgtaccgttc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	73	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(217-219)caA>caC		cylicin, basic protein of sperm head cytoskeleton 2							84	81	82					9																	105767015		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767015A>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.219A>C	9.37:g.105767015A>C	ENSP00000420256:p.Gln73His					CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	289	+		all_hematologic(171;0.125)	73			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.219A>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868610	0.32977	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14516	2.5;2.5	4.38	3.24	0.37175	.	1.048800	0.07642	N	0.930445	T	0.17323	0.0416	N	0.22421	0.69	0.23421	N	0.997713	D	0.62365	0.991	P	0.56088	0.791	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.8804	6.5659	0.22511	0.8906:0.0:0.1094:0.0	.	73	Q14093	CYLC2_HUMAN	H	73	ENSP00000420256:Q73H;ENSP00000417674:Q73H	ENSP00000420256:Q73H	Q	+	3	2	CYLC2	104806836	0.079000	0.21365	0.679000	0.29978	0.248000	0.25809	0.671000	0.25172	0.838000	0.34948	0.482000	0.46254	CAA		0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		18	138	0	0	0	1	0	18	138					C	105767015	A	C	105767015	3	2	79	1	0	0	0	0	1	0	0	0	4153	40	2	4	233	4	CYLC2	9	105767015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1317704	105767015	35446416	10252	20569											
SMC2	10592	broad.mit.edu	37	chr9	106860764	106860764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaataaatatttaatcaatgGagtcaatgccaacaacacca	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106860764G>A	ENST00000286398.7	+	4	644	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SMC2_ENST00000374793.3_Missense_Mutation_p.G119E|SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	119					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTAATCAATGGAGTCAATGCC	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(355-357)gGa>gAa		structural maintenance of chromosomes 2							160	154	156					9																	106860764		2203	4299	6502	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106860764G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.356G>A	9.37:g.106860764G>A	ENSP00000286398:p.Gly119Glu					SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E	p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			4	644	+			119					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.356G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039267	0.93630	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42732	-0.9434	10	0.87932	D	0	-24.1498	18.9014	0.92444	0.0:0.0:1.0:0.0	.	119;119;119	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	E	119	ENSP00000286398:G119E;ENSP00000363925:G119E;ENSP00000306152:G119E;ENSP00000363919:G119E	ENSP00000286398:G119E	G	+	2	0	SMC2	105900585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	GGA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			9	402	0	0	0	1	0	9	402					A	106860764	G	A	106860764	3	1	79	1	0	0	0	0	1	0	0	0	14833	1174	41	2	366	2	SMC2	9	106860764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093749	106860764	34352667	10253	20570											
SMC2	10592	broad.mit.edu	37	chr9	106864318	106864319	+	Frame_Shift_Ins	INS	-	-	T													gtttatatattgcttatcagINStttttgctggctgaagatac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106864318_106864319insT	ENST00000286398.7	+	8	1002_1003	c.714_715insT	c.(715-717)tttfs	p.F239fs	SMC2_ENST00000374793.3_Frame_Shift_Ins_p.F239fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.F239fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.F239fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	239					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTGCTTATCAGTTTTTGCTGGC	0.332																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(712-717)cattttfs		structural maintenance of chromosomes 2																																				SO:0001589	frameshift_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864318_106864319insT	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.719dupT	9.37:g.106864323_106864323dupT	ENSP00000286398:p.Phe239fs					SMC2_ENST00000303219.8_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.HF238fs	p.HF238fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			8	1002_1003	+			238					Q6IEE0|Q9P1P2	Frame_Shift_Ins	INS	ENST00000286398.7	37	c.714_715insT	CCDS35086.1																																																																																				0.332	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			72	417						72	417	---	---	---	---	T	106864319	-	T	106864318	7	5	79	1	0	1	1	0	0	0	0	0	14833	1020	36	0	740	0	SMC2	9	106864318	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	3554	106864318	34349113	10254	20571											
SMC2	10592	broad.mit.edu	37	chr9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctacaggaaggatcaaGaagctctagaagctgtaaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	449					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGGATCAAGAAGCTCTAGA	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1345-1347)Gaa>Taa		structural maintenance of chromosomes 2							69	71	71					9																	106875687		2203	4299	6502	SO:0001587	stop_gained	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106875687G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1345G>T	9.37:g.106875687G>T	ENSP00000286398:p.Glu449*					SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*	p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			11	1633	+			449					Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	c.1345G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.432230	0.98808	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.86	3.96	0.45880	.	0.276742	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8318	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	.	.	.	X	449	.	ENSP00000286398:E449X	E	+	1	0	SMC2	105915508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.341000	0.79300	1.265000	0.44215	0.650000	0.86243	GAA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			47	259	1	0	7.88023e-25	1	9.02574e-25	47	259					T	106875687	G	T	106875687	4	4	79	1	0	0	0	0	0	1	0	0	14833	943	33	3	1383	3	SMC2	9	106875687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11369	106875687	34337744	10255	20572											
SMC2	10592	broad.mit.edu	37	chr9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgcctggtgctaatgCtatgcttgcaccaccagagg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1054					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGCTAATGCTATGCTTGCA	0.398																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3160-3162)gCt>gTt		structural maintenance of chromosomes 2							122	120	121					9																	106896748		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106896748C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3161C>T	9.37:g.106896748C>T	ENSP00000286398:p.Ala1054Val					SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V	p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			23	3449	+			1054					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3161C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406271	0.96051	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-12.3446	18.6078	0.91272	0.0:1.0:0.0:0.0	.	1054	O95347	SMC2_HUMAN	V	1054	ENSP00000286398:A1054V;ENSP00000363925:A1054V;ENSP00000306152:A1054V;ENSP00000363919:A1054V	ENSP00000286398:A1054V	A	+	2	0	SMC2	105936569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.741000	0.93983	0.484000	0.47621	GCT		0.398	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			14	386	0	0	0	1	0	14	386					T	106896748	C	T	106896748	3	4	79	1	0	0	0	0	1	0	0	0	14833	797	28	2	3247	2	SMC2	9	106896748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21061	106896748	34316683	10256	20573											
OR13F1	138805	broad.mit.edu	37	chr9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggagaaacactatttcattCtcagggtgcgccactcagat	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	94			F -> S (in dbSNP:rs7018553).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(280-282)ttC>ttA		olfactory receptor, family 13, subfamily F, member 1							115	103	107					9																	107266825		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266825C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.282C>A	9.37:g.107266825C>A	ENSP00000334452:p.Phe94Leu						p.F94L	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	371	+			94		F -> S (in dbSNP:rs7018553).			Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.282C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965343	0.34659	.	.	ENSG00000186881	ENST00000334726	T	0.00327	8.09	4.26	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.64404	1.975	0.24525	N	0.994144	B	0.33022	0.394	B	0.33521	0.165	T	0.40251	-0.9573	10	0.66056	D	0.02	.	3.8682	0.09025	0.1898:0.6118:0.0:0.1984	.	94	Q8NGS4	O13F1_HUMAN	L	94	ENSP00000334452:F94L	ENSP00000334452:F94L	F	+	3	2	OR13F1	106306646	0.000000	0.05858	0.991000	0.47740	0.778000	0.44026	-0.041000	0.12084	0.759000	0.33084	-0.145000	0.13849	TTC		0.517	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			79	382	1	0	1.30681e-28	1	1.52204e-28	79	382					A	107266825	C	A	107266825	3	1	79	1	0	0	0	0	1	0	0	0	10983	912	32	3	284	3	OR13F1	9	107266825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370077	107266825	33946606	10257	20574											
OR13C4	138804	broad.mit.edu	37	chr9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccacagaaaggccatcGcatggcaagtgatgtttgca	11	10	0	2	rs373326335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(493-495)Cga>Tga		olfactory receptor, family 13, subfamily C, member 4		A	stop/ARG	0,4406		0,0,2203	120	113	115		493	-8.2	0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR13C4	NM_001001919.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		165/319	107288998	1,13005	2203	4300	6503	SO:0001587	stop_gained	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288998G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.493C>T	9.37:g.107288998G>A	ENSP00000277216:p.Arg165*						p.R165*	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	492	-			165					Q6IF51|Q96R41	Nonsense_Mutation	SNP	ENST00000277216.3	37	c.493C>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	g	5.300	0.240786	0.10077	0.0	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	.	.	.	4.12	-8.23	0.01033	.	2.814870	0.01724	U	0.028469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.676	0.17749	0.3553:0.0:0.1292:0.5156	.	.	.	.	X	165;194	.	ENSP00000277216:R165X	R	-	1	2	OR13C4	106328819	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.043000	0.00631	-1.604000	0.01595	-2.730000	0.00130	CGA		0.383	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			92	487	0	0	0	1	0	92	487					A	107288998	G	A	107288998	4	1	79	1	0	0	0	0	0	1	0	0	10978	1095	38	1	465	1	OR13C4	9	107288998	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22173	107288998	33924433	10258	20575											
OR13C8	138802	broad.mit.edu	37	chr9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaaaacataaggccTtctccacctgctcagcccac	7	15	2	1	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413													T|||	2	0.000399361	0.0	0.0	5008	,	,		20999	0.0		0.002	False		,,,				2504	0.0					ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(712-714)Ttc>Gtc		olfactory receptor, family 13, subfamily C, member 8		T	VAL/PHE	0,4406		0,0,2203	144	135	138		712	4.9	1	9	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR13C8	NM_001004483.1	50	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	238/321	107332160	2,13004	2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332160T>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.712T>G	9.37:g.107332160T>G	ENSP00000334068:p.Phe238Val						p.F238V	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	712	+			238					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.712T>G	CCDS35090.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	16.44	3.122941	0.56613	0.0	2.33E-4	ENSG00000186943	ENST00000335040	T	0.00291	8.27	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.01029	0.0034	H	0.95402	3.665	0.31828	N	0.625145	D	0.76494	0.999	D	0.77004	0.989	T	0.01520	-1.1334	10	0.87932	D	0	.	12.791	0.57534	0.0:0.0:0.0:1.0	.	238	Q8NGS7	O13C8_HUMAN	V	238	ENSP00000334068:F238V	ENSP00000334068:F238V	F	+	1	0	OR13C8	106371981	0.762000	0.28451	1.000000	0.80357	0.996000	0.88848	1.275000	0.33144	2.181000	0.69327	0.459000	0.35465	TTC		0.413	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			100	315	0	0	0	1	0	100	315					G	107332160	T	G	107332160	3	3	79	1	0	0	0	0	1	0	0	0	10980	1609	56	4	714	4	OR13C8	9	107332160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43162	107332160	33881271	10259	20576											
OR13C5	138799	broad.mit.edu	37	chr9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacttgggcttcatgtaCatgaggaagatggtcccaca	12	8	1	3	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(772-774)atG>atA		olfactory receptor, family 13, subfamily C, member 5							138	124	129					9																	107360921		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360921C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.774G>A	9.37:g.107360921C>T	ENSP00000363911:p.Met258Ile						p.M258I	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	867	-			258		M -> T (in dbSNP:rs1851724).			B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.774G>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271231	0.59649	.	.	ENSG00000255800	ENST00000374779	T	0.00145	8.67	4.03	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00178	0.0005	L	0.38175	1.15	0.22858	N	0.998648	P	0.44260	0.83	P	0.49085	0.6	T	0.42999	-0.9418	10	0.59425	D	0.04	.	6.158	0.20348	0.0:0.6722:0.0:0.3278	.	258	Q8NGS8	O13C5_HUMAN	I	258	ENSP00000363911:M258I	ENSP00000363911:M258I	M	-	3	0	OR13C5	106400742	0.038000	0.19896	0.950000	0.38849	0.296000	0.27459	0.068000	0.14531	0.925000	0.37094	0.423000	0.28283	ATG		0.443	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		77	296	0	0	0	1	0	77	296					T	107360921	C	T	107360921	3	4	79	1	0	0	0	0	1	0	0	0	10979	478	17	2	184	2	OR13C5	9	107360921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	107360921	33852510	10260	20577											
OR13C9	286362	broad.mit.edu	37	chr9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaggagtgaatcttgaGgatgctggaaatgattaatg	13	4	2	4	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAATCTTGAGGATGCTGGAA	0.438																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(676-678)Ctc>Atc		olfactory receptor, family 13, subfamily C, member 9							78	74	75					9																	107379810		2202	4300	6502	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379810G>T		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.676C>A	9.37:g.107379810G>T	ENSP00000259362:p.Leu226Ile						p.L226I	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	675	-			226					Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.676C>A	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544183	0.27563	.	.	ENSG00000136839	ENST00000259362	T	0.00302	8.2	4.46	0.413	0.16401	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000864	T	0.00328	0.0010	M	0.86805	2.84	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43475	-0.9389	10	0.56958	D	0.05	.	3.2491	0.06807	0.2734:0.0:0.4165:0.3101	.	226	Q8NGT0	O13C9_HUMAN	I	226	ENSP00000259362:L226I	ENSP00000259362:L226I	L	-	1	0	OR13C9	106419631	0.014000	0.17966	0.039000	0.18376	0.929000	0.56500	0.301000	0.19174	0.138000	0.18790	0.643000	0.83706	CTC		0.438	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			58	284	1	0	7.10663e-31	1	8.35009e-31	58	284					T	107379810	G	T	107379810	3	4	79	1	0	0	0	0	1	0	0	0	10981	1000	35	3	283	3	OR13C9	9	107379810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18889	107379810	33833621	10261	20578											
OR13C9	286362	broad.mit.edu	37	chr9	107379988	107379988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcttcctgcagaaaggCaattgtactacaaatgtagt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAGAAAGGCAATTGTACTA	0.443																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(496-498)ttG>ttA		olfactory receptor, family 13, subfamily C, member 9							124	106	112					9																	107379988		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379988C>T		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.498G>A	9.37:g.107379988C>T							p.L166L	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	497	-			166					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.498G>A	CCDS35093.1																																																																																				0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			60	381	0	0	0	1	0	60	381					T	107379988	C	T	107379988	2	4	79	1	0	0	0	0	0	0	0	1	10981	709	25	2		2	OR13C9	9	107379988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	107379988	33833443	10262	20579											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaccttcaaatatgaatgCgttcatggaaaatcttaaga	6	6	3	2	rs565850921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(151-153)gCg>gTg		nipsnap homolog 3B (C. elegans)							134	135	135					9																	107528697		2203	4300	6503	SO:0001583	missense	55335							g.chr9:107528697C>T	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.152C>T	9.37:g.107528697C>T	ENSP00000363894:p.Ala51Val					NIPSNAP3B_ENST00000461177.1_Intron	p.A51V	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			2	223	+			51					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.152C>T	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541424	0.27563	.	.	ENSG00000165028	ENST00000374762	T	0.49139	0.79	3.93	-0.174	0.13319	Dimeric alpha-beta barrel (1);	0.311612	0.33591	N	0.004758	T	0.35913	0.0948	L	0.46157	1.445	0.29368	N	0.864236	P	0.35348	0.496	B	0.31390	0.129	T	0.30909	-0.9962	10	0.56958	D	0.05	-6.9514	11.2204	0.48851	0.527:0.473:0.0:0.0	.	51	Q9BS92	NPS3B_HUMAN	V	51	ENSP00000363894:A51V	ENSP00000363894:A51V	A	+	2	0	NIPSNAP3B	106568518	1.000000	0.71417	0.836000	0.33094	0.307000	0.27823	2.743000	0.47442	-0.130000	0.11599	-0.271000	0.10264	GCG		0.388	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		94	494	0	0	0	1	0	94	494					T	107528697	C	T	107528697	3	4	79	1	0	0	0	0	1	0	0	0	10473	768	27	1	158	1	NIPSNAP3B	9	107528697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148709	107528697	33684734	10263	20580											
ABCA1	19	broad.mit.edu	37	chr9	107546610	107546610	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattcttcatacatagctttCtttcactttctcatcctgta	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546610C>A	ENST00000374736.3	-	50	7166	c.6772G>T	c.(6772-6774)Gaa>Taa	p.E2258*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2258					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACATAGCTTTCTTTCACTTTC	0.413																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6772-6774)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						193	180	185					9																	107546610		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107546610C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6772G>T	9.37:g.107546610C>A	ENSP00000363868:p.Glu2258*						p.E2258*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	50	7166	-			2258					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.6772G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	50	16.076903	0.99853	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7599	0.96309	0.0:1.0:0.0:0.0	.	.	.	.	X	2258	.	ENSP00000363868:E2258X	E	-	1	0	ABCA1	106586431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.664000	0.68045	2.752000	0.94435	0.650000	0.86243	GAA		0.413	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	491	1	0	7.45023e-12	1	7.97024e-12	19	491					A	107546610	C	A	107546610	4	1	79	1	0	0	0	0	0	1	0	0	28	922	32	3	17	3	ABCA1	9	107546610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	107546610	33666821	10264	20581											
ABCA1	19	broad.mit.edu	37	chr9	107546686	107546686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttttgtgtaatgagagGtcttttaagtggtcatcatc	11	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2232					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTAATGAGAGGTCTTTTAAGT	0.373																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6694-6696)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						219	206	210					9																	107546686		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107546686G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6696C>T	9.37:g.107546686G>A							p.D2232D	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	50	7090	-			2232					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.6696C>T	CCDS6762.1																																																																																				0.373	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		61	318	0	0	0	1	0	61	318					A	107546686	G	A	107546686	2	1	79	1	0	0	0	0	0	0	0	1	28	1252	44	2		2	ABCA1	9	107546686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	107546686	33666745	10265	20582											
ABCA1	19	broad.mit.edu	37	chr9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttacttggtcaagtgTtgtctgagaaacagagtagt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2212					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGGTCAAGTGTTGTCTGAGAA	0.473																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6634-6636)Aca>Gca		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						109	97	101					9																	107547688		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547688T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6634A>G	9.37:g.107547688T>C	ENSP00000363868:p.Thr2212Ala						p.T2212A	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	7028	-			2212					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6634A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	32	5.109080	0.94292	.	.	ENSG00000165029	ENST00000374736	D	0.89270	-2.49	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.89601	3.045	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.94760	0.7935	10	0.87932	D	0	.	16.806	0.85666	0.0:0.0:0.0:1.0	.	2212	O95477	ABCA1_HUMAN	A	2212	ENSP00000363868:T2212A	ENSP00000363868:T2212A	T	-	1	0	ABCA1	106587509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.529000	0.55759	ACA		0.473	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		37	209	0	0	0	1	0	37	209					C	107547688	T	C	107547688	3	2	79	1	0	0	0	0	1	0	0	0	28	1725	60	4	159	4	ABCA1	9	107547688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1002	107547688	33665743	10266	20583											
ABCA1	19	broad.mit.edu	37	chr9	107589230	107589230	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggccagaggtactcacaGcgaagatcttgagtgtgaag	13	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	779					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGTACTCACAGCGAAGATCTT	0.517																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.e16+1		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90	77	81					9																	107589230		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589230G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2337+1C>T	9.37:g.107589230G>A						ABCA1_ENST00000494467.1_5'UTR	p.A779_splice	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2730	-			779					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37	c.2337_splice	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439234	0.43326	.	.	ENSG00000165029	ENST00000374736	D	0.84370	-1.84	5.45	0.529	0.17095	.	0.434585	0.26518	N	0.023925	T	0.73908	0.3647	L	0.31804	0.96	0.37658	D	0.922663	B	0.10296	0.003	B	0.20384	0.029	T	0.60727	-0.7206	10	0.26408	T	0.33	.	9.5601	0.39364	0.3416:0.0:0.6584:0.0	.	779	O95477	ABCA1_HUMAN	V	779	ENSP00000363868:A779V	ENSP00000363868:A779V	A	-	2	0	ABCA1	106629051	0.965000	0.33210	0.001000	0.08648	0.573000	0.36030	2.795000	0.47861	-0.170000	0.10816	0.655000	0.94253	GCT		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Missense_Mutation	32	160	0	0	0	1	0	32	160					A	107589230	G	A	107589230	5	1	79	1	0	0	0	0	0	0	1	0	28	985	34	2	4589	2	ABCA1	9	107589230	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41542	107589230	33624201	10267	20584											
ABCA1	19	broad.mit.edu	37	chr9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtccaggcccatgatccGcatggtctctttcagccgtg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	672					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCATGATCCGCATGGTCTCT	0.527																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2014-2016)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						148	114	125					9																	107591298		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591298G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2014C>T	9.37:g.107591298G>A	ENSP00000363868:p.Arg672Trp					ABCA1_ENST00000494467.1_5'UTR	p.R672W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2408	-			672					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2014C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211998	0.79240	.	.	ENSG00000165029	ENST00000374736	D	0.84660	-1.88	6.02	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94063	0.7328	10	0.87932	D	0	.	12.6248	0.56623	0.0:0.0:0.4481:0.5519	.	672	O95477	ABCA1_HUMAN	W	672	ENSP00000363868:R672W	ENSP00000363868:R672W	R	-	1	2	ABCA1	106631119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	1.549000	0.49425	0.655000	0.94253	CGG		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		53	228	0	0	0	1	0	53	228					A	107591298	G	A	107591298	3	1	79	1	0	0	0	0	1	0	0	0	28	1086	38	1	4915	1	ABCA1	9	107591298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	107591298	33622133	10268	20585											
SLC44A1	23446	broad.mit.edu	37	chr9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcaacaggttcagccCtatgtagctacaacctaaag	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	139					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(415-417)Cta>Ata		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						111	110	110					9																	108110647		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110647C>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.415C>A	9.37:g.108110647C>A	ENSP00000363852:p.Leu139Ile					SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			5	662	+			139					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.415C>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511130	0.44660	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80123	-1.34;-1.34;-1.34	5.39	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.281;0.023	B;B	0.42214	0.38;0.007	T	0.70905	-0.4745	10	0.21014	T	0.42	-5.5214	7.2023	0.25887	0.0:0.6409:0.0:0.3591	.	139;139	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	139	ENSP00000363855:L139I;ENSP00000363852:L139I;ENSP00000363856:L139I	ENSP00000363852:L139I	L	+	1	2	SLC44A1	107150468	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.398000	0.34554	1.276000	0.44395	0.609000	0.83330	CTA		0.353	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		78	343	1	0	4.8811e-34	1	5.79764e-34	78	343					A	108110647	C	A	108110647	3	1	79	1	0	0	0	0	1	0	0	0	14685	680	24	3	433	3	SLC44A1	9	108110647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519349	108110647	33102784	10269	20586											
SLC44A1	23446	broad.mit.edu	37	chr9	108136980	108136980	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctttgcgagtggctaccatCaacacagtaggagattttat	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000374724.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374723.1_Silent_p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	532					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1594-1596)atC>atT		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						163	150	154					9																	108136980		2203	4300	6503	SO:0001819	synonymous_variant	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108136980C>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1596C>T	9.37:g.108136980C>T						SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374724.1_Silent_p.I532I	p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			13	1843	+			532					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	c.1596C>T	CCDS6763.1																																																																																				0.388	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		103	490	0	0	0	1	0	103	490					T	108136980	C	T	108136980	2	4	79	1	0	0	0	0	0	0	0	1	14685	816	29	2		2	SLC44A1	9	108136980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26333	108136980	33076451	10270	20587											
FKTN	2218	broad.mit.edu	37	chr9	108366669	108366669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcatgagaggagtggCaactacctctggcacggcca	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000540160.1_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	181					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)			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						AGAGGAGTGGCAACTACCTCT	0.473																																						ENST00000223528.2																			0				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						c.(541-543)ggC>ggT		fukutin							124	104	111					9																	108366669		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.chr9:108366669C>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.543C>T	9.37:g.108366669C>T						FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G	p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			5	667	+			181					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.543C>T	CCDS6766.1																																																																																				0.473	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		64	361	0	0	0	1	0	64	361					T	108366669	C	T	108366669	2	4	79	1	0	0	0	0	0	0	0	1	5944	697	25	2		2	FKTN	9	108366669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229689	108366669	32846762	10271	20588											
TAL2	6887	broad.mit.edu	37	chr9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcaaaaatgaaacgcttCgcctggcaatgaggtatatc	10	8	0	3	rs201241830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	45	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										TGAAACGCTTCGCCTGGCAAT	0.537			T	TRB@	T-ALL								.|||	1	0.000199681	0.0	0.0	5008	,	,		19605	0.001		0.0	False		,,,				2504	0.0					ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		0											c.(133-135)Cgc>Tgc		T-cell acute lymphocytic leukemia 2							103	95	98					9																	108424910		2203	4300	6503	SO:0001583	missense	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108424910C>T		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.133C>T	9.37:g.108424910C>T	ENSP00000334547:p.Arg45Cys						p.R45C	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	173	+			45			Helix-loop-helix motif.		A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	c.133C>T	CCDS6767.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.6	4.435289	0.83885	.	.	ENSG00000186051	ENST00000334077	D	0.98280	-4.84	5.52	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.6534	12.6354	0.56681	0.2812:0.7188:0.0:0.0	.	45	Q16559	TAL2_HUMAN	C	45	ENSP00000334547:R45C	ENSP00000334547:R45C	R	+	1	0	TAL2	107464731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.757000	0.94681	0.655000	0.94253	CGC		0.537	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		56	232	0	0	0	1	0	56	232					T	108424910	C	T	108424910	3	4	79	1	0	0	0	0	1	0	0	0	15594	884	31	1	135	1	TAL2	9	108424910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58241	108424910	32788521	10272	20589											
ZNF462	58499	broad.mit.edu	37	chr9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgcaagttctgtgtaCgctacttcaggtcaaaaaac	7	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R115S(1)	lung(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(343-345)Cgc>Tgc		zinc finger protein 462							87	82	84					9																	109686536		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686536C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.343C>T	9.37:g.109686536C>T	ENSP00000277225:p.Arg115Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C	p.R115C			Q96JM2	ZN462_HUMAN			3	632	+			115					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.343C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC		0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		52	240	0	0	0	1	0	52	240					T	109686536	C	T	109686536	3	4	79	1	0	0	0	0	1	0	0	0	17979	536	19	1	349	1	ZNF462	9	109686536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261626	109686536	31526895	10273	20590											
ZNF462	58499	broad.mit.edu	37	chr9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggatccagaaaactatgcGaatggtgtctgtggacaggg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1068					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAACTATGCGAATGGTGTCT	0.483																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3202-3204)cGa>cAa		zinc finger protein 462							141	137	138					9																	109689396		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689396G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3203G>A	9.37:g.109689396G>A	ENSP00000277225:p.Arg1068Gln					ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q	p.R1068Q			Q96JM2	ZN462_HUMAN			3	3492	+			1068					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3203G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070111	0.76301	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.62	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000004	T	0.20861	0.0502	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.644	T	0.00083	-1.2101	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1068;1068	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	1068	ENSP00000277225:R1068Q;ENSP00000414570:R1068Q	ENSP00000277225:R1068Q	R	+	2	0	ZNF462	108729217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.526000	0.81920	2.630000	0.89119	0.655000	0.94253	CGA		0.483	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		146	632	0	0	0	1	0	146	632					A	109689396	G	A	109689396	3	1	79	1	0	0	0	0	1	0	0	0	17979	1058	37	1	3209	1	ZNF462	9	109689396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2860	109689396	31524035	10274	20591											
ZNF462	58499	broad.mit.edu	37	chr9	109689673	109689673	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcaatgatgagaggggtCgaagggccccaaggctcccc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000277225.5	+	3	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	ZNF462_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000441147.2_Silent_p.V5V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1160					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGAGGGGTCGAAGGGCCCC	0.552																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3478-3480)gtC>gtT		zinc finger protein 462							66	77	73					9																	109689673		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689673C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3480C>T	9.37:g.109689673C>T						ZNF462_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000441147.2_Silent_p.V5V	p.V1160V			Q96JM2	ZN462_HUMAN			3	3769	+			1160					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3480C>T	CCDS35096.1																																																																																				0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		170	621	0	0	0	1	0	170	621					T	109689673	C	T	109689673	2	4	79	1	0	0	0	0	0	0	0	1	17979	871	31	1		1	ZNF462	9	109689673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	109689673	31523758	10275	20592											
ZNF462	58499	broad.mit.edu	37	chr9	109690160	109690160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgcatctactcccatacgGagcccaacggtttgctcctg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109690160G>A	ENST00000277225.5	+	3	4256	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K|ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1323					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCCCATACGGAGCCCAACGG	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3967-3969)Gag>Aag		zinc finger protein 462							129	117	121					9																	109690160		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690160G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3967G>A	9.37:g.109690160G>A	ENSP00000277225:p.Glu1323Lys					ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K|ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K	p.E1323K			Q96JM2	ZN462_HUMAN			3	4256	+			1323					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3967G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160685	0.94727	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.89;3.9	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.19112	0.55	0.80722	D	1	P;B	0.46277	0.875;0.351	P;B	0.50405	0.64;0.277	T	0.13953	-1.0490	10	0.52906	T	0.07	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	1323;1323	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1323;1323;206;168	ENSP00000277225:E1323K;ENSP00000414570:E1323K;ENSP00000363818:E206K;ENSP00000397306:E168K	ENSP00000277225:E1323K	E	+	1	0	ZNF462	108729981	1.000000	0.71417	0.946000	0.38457	0.842000	0.47809	9.397000	0.97276	2.509000	0.84616	0.561000	0.74099	GAG		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		11	607	0	0	0	1	0	11	607					A	109690160	G	A	109690160	3	1	79	1	0	0	0	0	1	0	0	0	17979	1175	41	2	3973	2	ZNF462	9	109690160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	109690160	31523271	10276	20593											
ZNF462	58499	broad.mit.edu	37	chr9	109694764	109694764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagccacctggccctggCcatgtttacccgcgaggaca	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109694764C>T	ENST00000277225.5	+	5	6339	c.6050C>T	c.(6049-6051)gCc>gTc	p.A2017V	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2017					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGGCCCTGGCCATGTTTACC	0.547																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6049-6051)gCc>gTc		zinc finger protein 462							138	101	114					9																	109694764		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109694764C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6050C>T	9.37:g.109694764C>T	ENSP00000277225:p.Ala2017Val					ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V	p.A2017V			Q96JM2	ZN462_HUMAN			5	6339	+			2017					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6050C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171487	0.78452	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05996	3.36;3.85;3.95;3.96	4.78	4.78	0.61160	.	0.062198	0.64402	D	0.000004	T	0.07098	0.0180	N	0.19112	0.55	0.80722	D	1	P;P	0.51057	0.921;0.941	P;P	0.46917	0.485;0.531	T	0.52132	-0.8616	10	0.15952	T	0.53	.	17.9881	0.89160	0.0:1.0:0.0:0.0	.	2077;2017	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	2017;2077;960;923	ENSP00000277225:A2017V;ENSP00000414570:A2077V;ENSP00000363818:A960V;ENSP00000397306:A923V	ENSP00000277225:A2017V	A	+	2	0	ZNF462	108734585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.488000	0.83962	0.591000	0.81541	GCC		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	301	0	0	0	1	0	6	301					T	109694764	C	T	109694764	3	4	79	1	0	0	0	0	1	0	0	0	17979	739	26	2	6064	2	ZNF462	9	109694764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4604	109694764	31518667	10277	20594											
ZNF462	58499	broad.mit.edu	37	chr9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacagccgtgttagccCtgtgcctctttctggggctg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000277225.5	+	8	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGTTAGCCCTGTGCCTCTT	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6517-6519)cCt>cAt		zinc finger protein 462							83	84	84					9																	109734376		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109734376C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6518C>A	9.37:g.109734376C>A	ENSP00000277225:p.Pro2173His					ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H	p.P2173H			Q96JM2	ZN462_HUMAN			8	6807	+			2173					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6518C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628355	0.87560	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.16073	3.35;3.85;3.94;3.94;2.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00482	-1.1713	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2233;74;2173	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	H	2173;2233;1116;1079;130	ENSP00000277225:P2173H;ENSP00000414570:P2233H;ENSP00000363818:P1116H;ENSP00000397306:P1079H;ENSP00000439771:P130H	ENSP00000277225:P2173H	P	+	2	0	ZNF462	108774197	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	2.991000	0.49409	2.941000	0.99782	0.655000	0.94253	CCT		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		27	292	1	0	7.41945e-09	1	7.77385e-09	27	292					A	109734376	C	A	109734376	3	1	79	1	0	0	0	0	1	0	0	0	17979	681	24	3	6544	3	ZNF462	9	109734376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39612	109734376	31479055	10278	20595											
ZNF462	58499	broad.mit.edu	37	chr9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgtttccacagaagagCgtgttgtccccattgaagtt	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2280					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2280C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R2280C(1)	large_intestine(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6838-6840)Cgt>Tgt		zinc finger protein 462							84	81	82					9																	109746472		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746472C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6838C>T	9.37:g.109746472C>T	ENSP00000277225:p.Arg2280Cys					ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C	p.R2280C			Q96JM2	ZN462_HUMAN			10	7127	+			2280					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6838C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712064	0.68730	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.17054	3.29;3.78;3.87;3.85;2.3	5.67	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50127	-0.8864	10	0.87932	D	0	.	14.8015	0.69919	0.5116:0.4884:0.0:0.0	.	2340;2280	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2280;2340;1223;1186;237	ENSP00000277225:R2280C;ENSP00000414570:R2340C;ENSP00000363818:R1223C;ENSP00000397306:R1186C;ENSP00000439771:R237C	ENSP00000277225:R2280C	R	+	1	0	ZNF462	108786293	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	1.379000	0.34340	1.293000	0.44690	0.655000	0.94253	CGT		0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		47	278	0	0	0	1	0	47	278					T	109746472	C	T	109746472	3	4	79	1	0	0	0	0	1	0	0	0	17979	768	27	1	6872	1	ZNF462	9	109746472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12096	109746472	31466959	10279	20596											
RAD23B	5887	broad.mit.edu	37	chr9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatagagaaagtcaggCtgtggttgacccccctcaag	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	237					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(709-711)gCt>gTt	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							41	42	42					9																	110084292		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084292C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.710C>T	9.37:g.110084292C>T	ENSP00000350708:p.Ala237Val					RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	p.A237V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			7	1061	+			237					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.710C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671429	0.29693	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.14;2.13	5.28	5.28	0.74379	.	0.149642	0.64402	D	0.000013	T	0.14874	0.0359	N	0.24115	0.695	0.49130	D	0.999759	B;B;B	0.29571	0.247;0.249;0.093	B;B;B	0.30572	0.117;0.082;0.05	T	0.07539	-1.0767	10	0.10902	T	0.67	-6.0997	15.6292	0.76888	0.0:0.8624:0.1376:0.0	.	216;237;237	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	V	237;165	ENSP00000350708:A237V;ENSP00000405623:A165V	ENSP00000350708:A237V	A	+	2	0	RAD23B	109124113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.643000	0.54374	2.626000	0.88956	0.555000	0.69702	GCT		0.433	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		35	140	0	0	0	1	0	35	140					T	110084292	C	T	110084292	3	4	79	1	0	0	0	0	1	0	0	0	13033	797	28	2	736	2	RAD23B	9	110084292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337820	110084292	31129139	10280	20597											
KLF4	9314	broad.mit.edu	37	chr9	110248208	110248208	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtggtaaggtttctcacCtgtaaaggtaaaagaaaaaa	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)						cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTTTCTCACCTGTAAAGGTA	0.463																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.e5-1		Kruppel-like factor 4 (gut)							59	57	58					9																	110248208		2203	4300	6503	SO:0001630	splice_region_variant	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110248208C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1265-1G>T	9.37:g.110248208C>A								NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			5	1738	-								B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Splice_Site	SNP	ENST00000374672.4	37		CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708696	0.48517	.	.	ENSG00000136826	ENST00000374672	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLF4	109288029	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.818000	0.86416	2.536000	0.85505	0.462000	0.41574	.		0.463	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235	Intron	65	263	1	0	3.63617e-18	1	4.02878e-18	65	263					A	110248208	C	A	110248208	5	1	79	1	0	0	0	0	0	0	1	0	8378	695	24	3	179	3	KLF4	9	110248208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163916	110248208	30965223	10281	20598											
KLF4	9314	broad.mit.edu	37	chr9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaccaccaccgggtggCtgccgtcagggctgcctttg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	258	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(772-774)aGc>aAc		Kruppel-like factor 4 (gut)							11	13	12					9																	110249902		2143	4186	6329	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249902C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.773G>A	9.37:g.110249902C>T	ENSP00000363804:p.Ser258Asn						p.S258N	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	1246	-			258			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.773G>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090335	0.36855	.	.	ENSG00000136826	ENST00000374672	T	0.05580	3.42	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000155	T	0.04137	0.0115	N	0.19112	0.55	0.22435	N	0.999108	P;P	0.47302	0.808;0.893	B;B	0.33960	0.173;0.16	T	0.43081	-0.9413	10	0.40728	T	0.16	.	13.8346	0.63402	0.0:0.8459:0.1541:0.0	.	258;258	O43474;O43474-1	KLF4_HUMAN;.	N	258	ENSP00000363804:S258N	ENSP00000363804:S258N	S	-	2	0	KLF4	109289723	0.028000	0.19301	0.997000	0.53966	0.885000	0.51271	0.139000	0.16036	2.155000	0.67459	0.655000	0.94253	AGC		0.687	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		20	112	0	0	0	1	0	20	112					T	110249902	C	T	110249902	3	4	79	1	0	0	0	0	1	0	0	0	8378	797	28	2	678	2	KLF4	9	110249902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	110249902	30963529	10282	20599											
ACTL7B	10880	broad.mit.edu	37	chr9	111617062	111617062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggccaggatggaaccGccggtccacacggaggtctt	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	383						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.G383G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657																																						ENST00000374667.3																			1	Substitution - coding silent(1)	p.G383G(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1147-1149)ggC>ggT		actin-like 7B							36	44	42					9																	111617062		2201	4297	6498	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617062G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1149C>T	9.37:g.111617062G>A							p.G383G	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2177	-			383					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.1149C>T	CCDS6771.1																																																																																				0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		55	434	0	0	0	1	0	55	434					A	111617062	G	A	111617062	2	1	79	1	0	0	0	0	0	0	0	1	201	1074	38	1		1	ACTL7B	9	111617062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1367160	111617062	29596369	10283	20600											
ACTL7A	10881	broad.mit.edu	37	chr9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactgagcccacacaccaAcagagagaaatatgctgaaa	8	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	179						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(535-537)aAc>aCc		actin-like 7A							111	109	110					9																	111625138		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625138A>C	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.536A>C	9.37:g.111625138A>C	ENSP00000334300:p.Asn179Thr						p.N179T	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	536	+			179					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.536A>C	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301479	0.81136	.	.	ENSG00000187003	ENST00000333999	D	0.97378	-4.36	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000102	D	0.98520	0.9506	M	0.87038	2.855	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.99548	1.0965	10	0.87932	D	0	.	14.4302	0.67243	1.0:0.0:0.0:0.0	.	179	Q9Y615	ACL7A_HUMAN	T	179	ENSP00000334300:N179T	ENSP00000334300:N179T	N	+	2	0	ACTL7A	110664959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.288000	0.76882	0.528000	0.53228	AAC		0.532	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		74	343	0	0	0	1	0	74	343					C	111625138	A	C	111625138	3	2	79	1	0	0	0	0	1	0	0	0	200	43	2	4	538	4	ACTL7A	9	111625138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8076	111625138	29588293	10284	20601											
IKBKAP	8518	broad.mit.edu	37	chr9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcaacgggcaaacatgaGccccgctggctcatacatgt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1007					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3019-3021)Ctc>Ttc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							75	68	71					9																	111653624		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111653624G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3019C>T	9.37:g.111653624G>A	ENSP00000363779:p.Leu1007Phe					IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F	p.L1007F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			28	3326	-			1007					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.3019C>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191802	0.78902	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.33865	1.79;1.39	5.87	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.52901	0.1763	M	0.63428	1.95	0.47659	D	0.999484	D	0.89917	1.0	D	0.79784	0.993	T	0.50189	-0.8857	10	0.49607	T	0.09	-14.8029	9.4432	0.38681	0.1607:0.0:0.8393:0.0	.	1007	O95163	ELP1_HUMAN	F	1007;658	ENSP00000363779:L1007F;ENSP00000439367:L658F	ENSP00000363779:L1007F	L	-	1	0	IKBKAP	110693445	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	3.297000	0.51810	2.779000	0.95612	0.591000	0.81541	CTC		0.527	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			62	321	0	0	0	1	0	62	321					A	111653624	G	A	111653624	3	1	79	1	0	0	0	0	1	0	0	0	7640	971	34	2	1019	2	IKBKAP	9	111653624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28486	111653624	29559807	10285	20602											
IKBKAP	8518	broad.mit.edu	37	chr9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgatccatggaactgtGtctccttcctaccccatcca	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	168					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(502-504)aCa>aTa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							211	185	194					9																	111685171		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111685171G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.503C>T	9.37:g.111685171G>A	ENSP00000363779:p.Thr168Ile					IKBKAP_ENST00000537196.1_Intron	p.T168I	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			6	810	-			168					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.503C>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761755	0.89932	.	.	ENSG00000070061	ENST00000374647	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85921	0.1446	10	0.87932	D	0	-12.1967	17.1551	0.86790	0.0:0.0:1.0:0.0	.	168	O95163	ELP1_HUMAN	I	168	ENSP00000363779:T168I	ENSP00000363779:T168I	T	-	2	0	IKBKAP	110724992	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.088000	0.94132	2.639000	0.89480	0.650000	0.86243	ACA		0.398	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			112	453	0	0	0	1	0	112	453					A	111685171	G	A	111685171	3	1	79	1	0	0	0	0	1	0	0	0	7640	1377	48	2	3623	2	IKBKAP	9	111685171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31547	111685171	29528260	10286	20603											
CTNNAL1	8727	broad.mit.edu	37	chr9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcataagcttgtcaTcgtctttcagctgaaatgta	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000325551.4	-	17	2038	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D651G|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	651					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGCTTGTCATCGTCTTTCAG	0.353																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1951-1953)gAt>gGt		catenin (cadherin-associated protein), alpha-like 1							133	132	132					9																	111706086		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706086T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1952A>G	9.37:g.111706086T>C	ENSP00000320434:p.Asp651Gly					FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D651G	p.D651G			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	2031	-			651					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1952A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608757	0.46527	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.54	5.54	0.83059	.	0.144107	0.64402	D	0.000007	T	0.65995	0.2745	M	0.64997	1.995	0.26154	N	0.980095	D;D;B;D	0.89917	1.0;0.961;0.002;0.961	D;P;B;P	0.87578	0.998;0.721;0.009;0.721	T	0.58808	-0.7571	10	0.11485	T	0.65	-21.7967	13.6804	0.62481	0.0:0.0:0.0:1.0	.	567;651;651;651	Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	G	651;651;567;52	ENSP00000363723:D651G;ENSP00000320434:D651G;ENSP00000323351:D567G;ENSP00000363722:D52G	ENSP00000320434:D651G	D	-	2	0	CTNNAL1	110745907	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	GAT		0.353	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		57	320	0	0	0	1	0	57	320					C	111706086	T	C	111706086	3	2	79	1	0	0	0	0	1	0	0	0	4026	1435	50	4	264	4	CTNNAL1	9	111706086	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20915	111706086	29507345	10287	20604											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaattgcttgcagagttTtatcagactttttggtatta	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000325551.4	-	2	274	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K63T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	63					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGCAGAGTTTTATCAGACTT	0.333																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(187-189)aAa>aCa		catenin (cadherin-associated protein), alpha-like 1							146	153	151					9																	111761490		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761490T>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.188A>C	9.37:g.111761490T>G	ENSP00000320434:p.Lys63Thr					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.K63T	p.K63T			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	267	-			63					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.188A>C	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848949	0.71603	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.93	5.93	0.95920	.	0.106328	0.64402	D	0.000006	T	0.61324	0.2338	M	0.72894	2.215	0.49798	D	0.999823	D;P;D	0.69078	0.997;0.941;0.997	D;P;D	0.65874	0.939;0.818;0.939	T	0.60757	-0.7200	10	0.38643	T	0.18	-23.9731	14.336	0.66589	0.0:0.0:0.0:1.0	.	63;63;63	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	63	ENSP00000363723:K63T;ENSP00000320434:K63T;ENSP00000323351:K63T;ENSP00000363721:K63T	ENSP00000320434:K63T	K	-	2	0	CTNNAL1	110801311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	2.258000	0.74832	0.533000	0.62120	AAA		0.333	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		124	655	0	0	0	1	0	124	655					G	111761490	T	G	111761490	3	3	79	1	0	0	0	0	1	0	0	0	4026	1841	64	4	2088	4	CTNNAL1	9	111761490	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55404	111761490	29451941	10288	20605											
EPB41L4B	54566	broad.mit.edu	37	chr9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catcttctctctctccagttCctgccggagtgtctctgcac	7	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	885					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2653-2655)Gaa>Taa		erythrocyte membrane protein band 4.1 like 4B							115	118	117					9																	111936884		1958	4145	6103	SO:0001587	stop_gained	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111936884C>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2653G>T	9.37:g.111936884C>A	ENSP00000363694:p.Glu885*						p.E885*	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			26	3170	-			885					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Nonsense_Mutation	SNP	ENST00000374566.3	37	c.2653G>T	CCDS43859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.425980|10.425980	0.99403|0.99403	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.419856	.|0.17679	.|N	.|0.165710	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76462	.|-0.2950	.|6	0.87932|0.49607	D|T	0|0.09	.|.	19.215|19.215	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	885|569	.|.	ENSP00000363694:E885X|ENSP00000262536:G569V	E|G	-|-	1|2	0|0	EPB41L4B|EPB41L4B	110976705|110976705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.448	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		13	205	1	0	5.50884e-06	1	5.65664e-06	13	205					A	111936884	C	A	111936884	4	1	79	1	0	0	0	0	0	1	0	0	5174	864	30	3	53	3	EPB41L4B	9	111936884	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175394	111936884	29276547	10289	20606											
EPB41L4B	54566	broad.mit.edu	37	chr9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgacattctggaccttgGgggacggcagcggcacggag	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	719					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2155-2157)cCc>cAc		erythrocyte membrane protein band 4.1 like 4B							122	139	134					9																	111956567		2028	4186	6214	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111956567G>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2156C>A	9.37:g.111956567G>T	ENSP00000363694:p.Pro719His						p.P719H	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			21	2673	-			719					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.2156C>A	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511193	0.64522	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.92965	-3.14	5.49	5.49	0.81192	.	0.000000	0.37669	N	0.001986	D	0.94716	0.8295	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94895	0.8051	10	0.72032	D	0.01	.	14.8772	0.70504	0.0:0.0:1.0:0.0	.	719	Q9H329	E41LB_HUMAN	H	404;719	ENSP00000363694:P719H	ENSP00000262536:P404H	P	-	2	0	EPB41L4B	110996388	1.000000	0.71417	0.678000	0.29963	0.532000	0.34746	5.211000	0.65219	2.582000	0.87167	0.655000	0.94253	CCC		0.632	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		116	431	1	0	5.12507e-49	1	6.33484e-49	116	431					T	111956567	G	T	111956567	3	4	79	1	0	0	0	0	1	0	0	0	5174	1232	43	3	570	3	EPB41L4B	9	111956567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19683	111956567	29256864	10290	20607											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017853	112017853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttgctgtttcctggCgtccgcagtcggaagaatgc	13	9	0	1	rs377599387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1105-1107)acG>acA		erythrocyte membrane protein band 4.1 like 4B		C	,	2,3888		0,2,1943	120	112	115		1107,1107	-4.4	0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC		0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112017853C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	9.37:g.112017853C>T						EPB41L4B_ENST00000374557.4_Silent_p.T369T	p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			11	1624	-			369			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1107G>A	CCDS43859.1																																																																																				0.522	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		80	341	0	0	0	1	0	80	341					T	112017853	C	T	112017853	2	4	79	1	0	0	0	0	0	0	0	1	5174	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61286	112017853	29195578	10291	20608											
PTPN3	5774	broad.mit.edu	37	chr9	112166806	112166806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccaaagtgtccccaccCtccggacacatggggaaaat	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112166806C>A	ENST00000374541.2	-	19	1979	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E494D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	625					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTCCCCACCCTCCGGACACA	0.532																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1480-1482)gaG>gaT		protein tyrosine phosphatase, non-receptor type 3							114	103	107					9																	112166806		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166806C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1875G>T	9.37:g.112166806C>A	ENSP00000363667:p.Glu625Asp					PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000374541.2_Missense_Mutation_p.E625D	p.E494D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4035	-			625					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1482G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953877	0.34471	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.71817	-0.46;-0.45;-0.6;3.93;-0.39	5.63	5.63	0.86233	.	0.339106	0.34411	N	0.003999	T	0.54854	0.1884	L	0.38175	1.15	0.37573	D	0.919522	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.51880	-0.8649	10	0.12103	T	0.63	.	7.6876	0.28548	0.0:0.8061:0.0:0.1939	.	471;580;625	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	D	625;494;449;625;93;471	ENSP00000416654:E494D;ENSP00000395384:E449D;ENSP00000363667:E625D;ENSP00000378304:E93D;ENSP00000262539:E471D	ENSP00000262539:E471D	E	-	3	2	PTPN3	111206627	0.887000	0.30362	1.000000	0.80357	0.940000	0.58332	0.688000	0.25422	2.815000	0.96918	0.561000	0.74099	GAG		0.532	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			7	355	1	0	1.06961e-07	1	1.11297e-07	7	355					A	112166806	C	A	112166806	3	1	79	1	0	0	0	0	1	0	0	0	12839	680	24	3	898	3	PTPN3	9	112166806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148953	112166806	29046625	10292	20609											
PTPN3	5774	broad.mit.edu	37	chr9	112216845	112216845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaatgcagggtacagGggaaacctcctacaacattt	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	ENST00000374541.2	-	5	403	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGGTACAGGGGAAACCTCC	0.333																																						ENST00000374541.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(298-300)cCc>cTc		protein tyrosine phosphatase, non-receptor type 3							114	119	118					9																	112216845		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112216845G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.299C>T	9.37:g.112216845G>A	ENSP00000363667:p.Pro100Leu					PTPN3_ENST00000262539.3_Intron	p.P100L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN			5	403	-			100			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.299C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551656	0.86127	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.78595	-1.19	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.91510	3.215	0.80722	D	1	P;D	0.76494	0.775;0.999	P;D	0.77557	0.665;0.99	D	0.92260	0.5816	10	0.72032	D	0.01	.	19.3642	0.94454	0.0:0.0:1.0:0.0	.	100;100	B7Z9V1;P26045	.;PTN3_HUMAN	L	100	ENSP00000363667:P100L	ENSP00000363667:P100L	P	-	2	0	PTPN3	111256666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.689000	0.91719	0.462000	0.41574	CCC		0.333	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			16	471	0	0	0	1	0	16	471					A	112216845	G	A	112216845	3	1	79	1	0	0	0	0	1	0	0	0	12839	1232	43	2	2530	2	PTPN3	9	112216845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50039	112216845	28996586	10293	20610											
PALM2	114299	broad.mit.edu	37	chr9	112705591	112705591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgtgtccgggaggccGgtctcagacaccacagagcc	14	13	1	2	rs369583696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000374531.2	+	7	1100	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	PALM2_ENST00000448454.2_Silent_p.P376P|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	342					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGGGAGGCCGGTCTCAGACA	0.547																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1126-1128)ccG>ccA		paralemmin 2		G	,,,	0,4406		0,0,2203	120	118	118		1026,,1122,	-11.7	0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,intron	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	342/380,,374/412,	112705591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112705591G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1026G>A	9.37:g.112705591G>A						AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000374531.2_Silent_p.P342P|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	p.P376P							8	1128	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.1128G>A	CCDS35099.1																																																																																				0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		92	462	0	0	0	1	0	92	462					A	112705591	G	A	112705591	2	1	79	1	0	0	0	0	0	0	0	1	11451	1103	39	1		1	PALM2	9	112705591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488746	112705591	28507840	10294	20611											
AKAP2	11217	broad.mit.edu	37	chr9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctagaggccaactgCtgtgattctgctgtggatgg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000259318.7	+	2	399	c.192C>A	c.(190-192)tgC>tgA	p.C64*	AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	64										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGCCAACTGCTGTGATTCTG	0.562																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(883-885)tgC>tgA									157	125	136					9																	112898709		2203	4300	6503	SO:0001587	stop_gained	0						enzyme binding	g.chr9:112898709C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.192C>A	9.37:g.112898709C>A	ENSP00000259318:p.Cys64*					AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.C64*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	p.C295*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1065	+			64					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	c.885C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.090318	0.97271	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	4.33	0.51752	.	0.149906	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.09	9.7747	0.40612	0.0:0.7342:0.0:0.2658	.	.	.	.	X	295;295;295;295;153;153;113;64	.	ENSP00000259318:C64X	C	+	3	2	PALM2-AKAP2;AKAP2	111938530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.780000	0.26760	1.633000	0.50488	0.655000	0.94253	TGC		0.562	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		89	470	1	0	3.1376e-36	1	3.75457e-36	89	470					A	112898709	C	A	112898709	4	1	79	1	0	0	0	0	0	1	0	0	451	805	28	3	465	3	AKAP2	9	112898709	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193118	112898709	28314722	10295	20612											
AKAP2	11217	broad.mit.edu	37	chr9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacactgaaaaaggagGccaagtttgagctgcgtgcc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000259318.7	+	2	736	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	177										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAAAAGGAGGCCAAGTTTGA	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1222-1224)Gcc>Acc									85	79	81					9																	112899046		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899046G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.529G>A	9.37:g.112899046G>A	ENSP00000259318:p.Ala177Thr					AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A177T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	p.A408T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1402	+			177					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1222G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907713	0.92107	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.999;0.997;0.998;0.998;0.996	T	0.68969	-0.5269	10	0.59425	D	0.04	-28.0429	19.8676	0.96824	0.0:0.0:1.0:0.0	.	177;266;260;266;267;408;408;226	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	408;408;408;408;266;266;226;177	ENSP00000363654:A408T;ENSP00000305861:A408T;ENSP00000451476:A408T;ENSP00000421522:A408T;ENSP00000404782:A266T;ENSP00000363649:A266T;ENSP00000419268:A226T;ENSP00000259318:A177T	ENSP00000259318:A177T	A	+	1	0	PALM2-AKAP2;AKAP2	111938867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	GCC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		57	232	0	0	0	1	0	57	232					A	112899046	G	A	112899046	3	1	79	1	0	0	0	0	1	0	0	0	451	1203	42	2	802	2	AKAP2	9	112899046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	112899046	28314385	10296	20613											
AKAP2	11217	broad.mit.edu	37	chr9	112899457	112899457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgattgacaaagcaaagGaggacattgtcacagagcag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899457G>A	ENST00000259318.7	+	2	1147	c.940G>A	c.(940-942)Gag>Aag	p.E314K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E545K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	314										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAAAGCAAAGGAGGACATTGT	0.542																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1633-1635)Gag>Aag									24	21	22					9																	112899457		2196	4284	6480	SO:0001583	missense	0						enzyme binding	g.chr9:112899457G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.940G>A	9.37:g.112899457G>A	ENSP00000259318:p.Glu314Lys					AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E314K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	p.E545K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1813	+			314					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1633G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218387	0.39201	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.43	4.53	0.55603	.	0.102279	0.64402	N	0.000004	T	0.48874	0.1524	L	0.51422	1.61	0.45567	D	0.998519	B;B;B;B;B;B;B;B	0.24043	0.008;0.003;0.007;0.015;0.008;0.096;0.096;0.004	B;B;B;B;B;B;B;B	0.29524	0.007;0.009;0.004;0.012;0.005;0.103;0.062;0.004	T	0.51834	-0.8655	10	0.59425	D	0.04	-20.5912	12.6927	0.56985	0.0784:0.0:0.9216:0.0	.	314;403;397;403;404;545;545;363	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	545;545;545;545;403;403;363;314	ENSP00000363654:E545K;ENSP00000305861:E545K;ENSP00000451476:E545K;ENSP00000421522:E545K;ENSP00000404782:E403K;ENSP00000363649:E403K;ENSP00000419268:E363K;ENSP00000259318:E314K	ENSP00000259318:E314K	E	+	1	0	PALM2-AKAP2;AKAP2	111939278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.894000	0.48640	2.546000	0.85860	0.655000	0.94253	GAG		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	136	0	0	0	1	0	5	136					A	112899457	G	A	112899457	3	1	79	1	0	0	0	0	1	0	0	0	451	1175	41	2	1213	2	AKAP2	9	112899457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	112899457	28313974	10297	20614											
AKAP2	11217	broad.mit.edu	37	chr9	112899987	112899987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataccacagtcctggagacCctatccaatgatttcagcat	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899987C>T	ENST00000259318.7	+	2	1677	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	AKAP2_ENST00000434623.2_Silent_p.T579T|PALM2-AKAP2_ENST00000374530.3_Silent_p.T721T|AKAP2_ENST00000555236.1_Silent_p.T721T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	490										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTGGAGACCCTATCCAATG	0.493																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2161-2163)acC>acT									92	91	92					9																	112899987		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112899987C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1470C>T	9.37:g.112899987C>T						AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000259318.7_Silent_p.T490T|AKAP2_ENST00000434623.2_Silent_p.T579T|AKAP2_ENST00000510514.5_Silent_p.T721T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	p.T721T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2343	+			490					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2163C>T	CCDS48003.1																																																																																				0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		9	506	0	0	0	1	0	9	506					T	112899987	C	T	112899987	2	4	79	1	0	0	0	0	0	0	0	1	451	610	22	2		2	AKAP2	9	112899987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	112899987	28313444	10298	20615											
AKAP2	11217	broad.mit.edu	37	chr9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccttggagtatcaggCtggcctcctggtgcagaatg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000259318.7	+	2	1916	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	570	PKA-RII subunit binding domain.									breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGTATCAGGCTGGCCTCCTG	0.542																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2401-2403)gCt>gAt									39	39	39					9																	112900226		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112900226C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1709C>A	9.37:g.112900226C>A	ENSP00000259318:p.Ala570Asp					AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A570D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	p.A801D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2582	+			570					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2402C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912078	0.72983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58940	1.63;1.65;1.63;1.65;0.87;0.32;0.3;0.94	5.95	5.95	0.96441	RII binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.998;0.998;0.997	T	0.77747	-0.2472	10	0.87932	D	0	-20.6001	19.3768	0.94514	0.0:1.0:0.0:0.0	.	570;659;653;659;660;801;801;619	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	801;801;801;801;659;659;619;570	ENSP00000363654:A801D;ENSP00000305861:A801D;ENSP00000451476:A801D;ENSP00000421522:A801D;ENSP00000404782:A659D;ENSP00000363649:A659D;ENSP00000419268:A619D;ENSP00000259318:A570D	ENSP00000259318:A570D	A	+	2	0	PALM2-AKAP2;AKAP2	111940047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.121000	0.77160	2.810000	0.96702	0.650000	0.86243	GCT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		33	151	1	0	2.61193e-14	1	2.83483e-14	33	151					A	112900226	C	A	112900226	3	1	79	1	0	0	0	0	1	0	0	0	451	797	28	3	1982	3	AKAP2	9	112900226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	112900226	28313205	10299	20616											
AKAP2	11217	broad.mit.edu	37	chr9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagagatccgagcagCtcaggaaagggaagaggagc	17	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000259318.7	+	2	2393	c.2186C>A	c.(2185-2187)gCt>gAt	p.A729D	AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	729										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATCCGAGCAGCTCAGGAAAGG	0.542																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2878-2880)gCt>gAt									83	77	79					9																	112900703		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112900703C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2186C>A	9.37:g.112900703C>A	ENSP00000259318:p.Ala729Asp					AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A729D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D	p.A960D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	3059	+			729					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2879C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498748	0.85069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.67865	1.5;1.5;1.5;1.5;1.5;1.5;-0.29;1.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.998;0.999;0.999;0.998	T	0.77094	-0.2715	10	0.33141	T	0.24	-27.8397	19.2867	0.94077	0.0:1.0:0.0:0.0	.	729;818;812;818;819;960;960;778	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	960;960;960;960;818;818;778;729	ENSP00000363654:A960D;ENSP00000305861:A960D;ENSP00000451476:A960D;ENSP00000421522:A960D;ENSP00000404782:A818D;ENSP00000363649:A818D;ENSP00000419268:A778D;ENSP00000259318:A729D	ENSP00000259318:A729D	A	+	2	0	PALM2-AKAP2;AKAP2	111940524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.793000	0.96121	0.655000	0.94253	GCT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		38	274	1	0	1.07637e-12	1	1.15814e-12	38	274					A	112900703	C	A	112900703	3	1	79	1	0	0	0	0	1	0	0	0	451	797	28	3	2459	3	AKAP2	9	112900703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477	112900703	28312728	10300	20617											
C9orf152	401546	broad.mit.edu	37	chr9	112963456	112963456	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggttccttgctgagtcatCtgattggtttcaaacaagtg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(490-492)caG>caA		chromosome 9 open reading frame 152							204	187	193					9																	112963456		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963456C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.492G>A	9.37:g.112963456C>T						C9orf152_ENST00000473442.1_Intron	p.Q164Q	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	1101	-			164					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.492G>A	CCDS35102.2																																																																																				0.507	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		136	754	0	0	0	1	0	136	754					T	112963456	C	T	112963456	2	4	79	1	0	0	0	0	0	0	0	1	2470	912	32	2		2	C9orf152	9	112963456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62753	112963456	28249975	10301	20618											
TXN	7295	broad.mit.edu	37	chr9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactaattcattaatggtggCttcaagcttttccttattgg	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.A79S	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	99	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289																																						ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(295-297)Gcc>Tcc		thioredoxin							36	34	35					9																	113006460		2202	4295	6497	SO:0001583	missense	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113006460C>A	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.295G>T	9.37:g.113006460C>A	ENSP00000363641:p.Ala99Ser					TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.A79S	p.A99S	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	5	499	-			99			Thioredoxin.		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	c.295G>T	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381254	0.24944	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22336	3.95;1.96	5.45	3.39	0.38822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.216640	0.36519	N	0.002548	T	0.14830	0.0358	N	0.25825	0.765	0.29885	N	0.825726	B;B	0.17667	0.023;0.023	B;B	0.27796	0.083;0.051	T	0.16129	-1.0413	10	0.16420	T	0.52	-2.3374	11.7284	0.51722	0.3316:0.6684:0.0:0.0	.	79;99	B1ALW1;P10599	.;THIO_HUMAN	S	99;79	ENSP00000363641:A99S;ENSP00000363639:A79S	ENSP00000363639:A79S	A	-	1	0	TXN	112046281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	1.266000	0.44231	0.655000	0.94253	GCC		0.289	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			35	102	1	0	4.32679e-17	1	4.76816e-17	35	102					A	113006460	C	A	113006460	3	1	79	1	0	0	0	0	1	0	0	0	16844	797	28	3	26	3	TXN	9	113006460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43004	113006460	28206971	10302	20619											
SVEP1	79987	broad.mit.edu	37	chr9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttctgacaggtgaatgTatctgtatctgtatccatcg	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000401783.2	-	39	9814	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3160	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGTGAATGTATCTGTATCT	0.393																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9478-9480)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							252	242	245					9																	113166795		1888	4116	6004	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166795T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9478A>G	9.37:g.113166795T>C	ENSP00000384917:p.Thr3160Ala					SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A	p.T3160A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9814	-			3160			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9478A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916568	0.52546	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65916	-0.18;-0.18;-0.18	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.294359	0.38217	N	0.001779	T	0.63153	0.2487	M	0.73372	2.23	0.80722	D	1	P	0.44429	0.835	P	0.45071	0.468	T	0.61729	-0.7003	10	0.22706	T	0.39	.	10.7126	0.45993	0.0:0.0798:0.0:0.9202	.	3160	Q4LDE5	SVEP1_HUMAN	A	3160;3137;1086	ENSP00000384917:T3160A;ENSP00000363593:T3137A;ENSP00000297826:T1086A	ENSP00000297826:T1086A	T	-	1	0	SVEP1	112206616	0.989000	0.36119	0.992000	0.48379	0.603000	0.37013	1.670000	0.37502	2.200000	0.70718	0.482000	0.46254	ACA		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				188	769	0	0	0	1	0	188	769					C	113166795	T	C	113166795	3	2	79	1	0	0	0	0	1	0	0	0	15472	1638	57	4	1277	4	SVEP1	9	113166795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160335	113166795	28046636	10303	20620											
SVEP1	79987	broad.mit.edu	37	chr9	113170918	113170918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggctctgggcacttgGcaggcatgcactttggattt	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113170918G>A	ENST00000401783.2	-	38	7298	c.6962C>T	c.(6961-6963)gCc>gTc	p.A2321V	SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2321	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGCACTTGGCAGGCATGCA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6961-6963)gCc>gTc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56	57	56					9																	113170918		1907	4129	6036	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170918G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6962C>T	9.37:g.113170918G>A	ENSP00000384917:p.Ala2321Val					SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V	p.A2321V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7298	-			2321			Sushi 16.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6962C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461962	0.04508	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.21734	1.99;1.99;1.99	5.8	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (1);	0.596150	0.19254	N	0.118854	T	0.06371	0.0164	N	0.00855	-1.145	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22312	-1.0220	10	0.02654	T	1	.	14.0439	0.64693	0.075:0.0:0.925:0.0	.	2321	Q4LDE5	SVEP1_HUMAN	V	2321;2298;247	ENSP00000384917:A2321V;ENSP00000363593:A2298V;ENSP00000297826:A247V	ENSP00000297826:A247V	A	-	2	0	SVEP1	112210739	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	5.247000	0.65416	1.395000	0.46643	0.655000	0.94253	GCC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	301	0	0	0	1	0	13	301					A	113170918	G	A	113170918	3	1	79	1	0	0	0	0	1	0	0	0	15472	1203	42	2	3797	2	SVEP1	9	113170918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4123	113170918	28042513	10304	20621											
SVEP1	79987	broad.mit.edu	37	chr9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagagcagtagtagaatgCaatgtctccaaagagccgat	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000401783.2	-	37	6463	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2043	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGTAGAATGCAATGTCTCCA	0.552																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6127-6129)Gca>Aca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							46	48	47					9																	113173864		1964	4147	6111	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173864C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6127G>A	9.37:g.113173864C>T	ENSP00000384917:p.Ala2043Thr					SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T	p.A2043T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			37	6463	-			2043			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6127G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701688	0.88924	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73678	-0.3907	10	0.20519	T	0.43	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	2043	Q4LDE5	SVEP1_HUMAN	T	2043;2020	ENSP00000384917:A2043T;ENSP00000363593:A2020T	ENSP00000363593:A2020T	A	-	1	0	SVEP1	112213685	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.816000	0.69222	2.847000	0.97988	0.591000	0.81541	GCA		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	119	0	0	0	1	0	18	119					T	113173864	C	T	113173864	3	4	79	1	0	0	0	0	1	0	0	0	15472	710	25	2	4636	2	SVEP1	9	113173864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946	113173864	28039567	10305	20622											
SVEP1	79987	broad.mit.edu	37	chr9	113194818	113194818	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacccaatagatagtaGccattgttgcactggtaggt	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000401783.2	-	31	5493	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G	SVEP1_ENST00000374469.1_Silent_p.G1696G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1719	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGATAGTAGCCATTGTTGC	0.493																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5155-5157)ggC>ggA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							143	140	141					9																	113194818		1964	4150	6114	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194818G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5157C>A	9.37:g.113194818G>T						SVEP1_ENST00000374469.1_Silent_p.G1696G	p.G1719G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			31	5493	-			1719			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.5157C>A	CCDS48004.1																																																																																				0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				96	426	1	0	2.01383e-38	1	2.42724e-38	96	426					T	113194818	G	T	113194818	2	4	79	1	0	0	0	0	0	0	0	1	15472	958	34	3		3	SVEP1	9	113194818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20954	113194818	28018613	10306	20623											
SVEP1	79987	broad.mit.edu	37	chr9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtcttcaggggatgTgcttccaggtggagaggtgt	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1063-1065)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72	71	71					9																	113276288		2004	4179	6183	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113276288T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1063A>G	9.37:g.113276288T>C	ENSP00000384917:p.Thr355Ala					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	p.T355A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			4	1399	-			355					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1063A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	SVEP1	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	62	0	0	0	1	0	15	62					C	113276288	T	C	113276288	3	2	79	1	0	0	0	0	1	0	0	0	15472	1696	59	4	9832	4	SVEP1	9	113276288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81470	113276288	27937143	10307	20624											
SVEP1	79987	broad.mit.edu	37	chr9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctccactcctgaatctcGcagtgacgctgcaattggtc	9	13	2	2	rs368175556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000401783.2	-	2	970	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAATCTCGCAGTGACGCT	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(634-636)Cga>Tga		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							145	141	142					9																	113312282		1941	4157	6098	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312282G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.634C>T	9.37:g.113312282G>A	ENSP00000384917:p.Arg212*					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*	p.R212*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	970	-			212			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.634C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	40	8.528289	0.98850	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	-6.26E-4	0.14038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5394	0.84381	0.0:0.0:0.4206:0.5794	.	.	.	.	X	212;189;212;189	.	ENSP00000304118:R212X	R	-	1	2	SVEP1	112352103	1.000000	0.71417	0.419000	0.26584	0.646000	0.38490	2.723000	0.47277	-0.197000	0.10350	0.563000	0.77884	CGA		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				111	370	0	0	0	1	0	111	370					A	113312282	G	A	113312282	4	1	79	1	0	0	0	0	0	1	0	0	15472	1095	38	1	10269	1	SVEP1	9	113312282	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35994	113312282	27901149	10308	20625											
SVEP1	79987	broad.mit.edu	37	chr9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagggtctcccccattggAatatccatcagtgatgagaa	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000401783.2	-	2	931	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	199	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCCCATTGGAATATCCATCA	0.418																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(595-597)Tcc>Ccc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							179	176	177					9																	113312321		1908	4128	6036	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312321A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.595T>C	9.37:g.113312321A>G	ENSP00000384917:p.Ser199Pro					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P	p.S199P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	931	-			199			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.595T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615636	0.87359	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.71920	2.185	0.46437	D	0.999046	D;D;D	0.89917	0.99;0.971;1.0	P;P;D	0.85130	0.855;0.9;0.997	D	0.92626	0.6112	10	0.87932	D	0	.	15.897	0.79341	1.0:0.0:0.0:0.0	.	199;199;199	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	199;176;199;176	ENSP00000384917:S199P;ENSP00000363593:S176P;ENSP00000304118:S199P;ENSP00000363585:S176P	ENSP00000304118:S199P	S	-	1	0	SVEP1	112352142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.209000	0.71365	0.460000	0.39030	TCC		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				107	590	0	0	0	1	0	107	590					G	113312321	A	G	113312321	3	3	79	1	0	0	0	0	1	0	0	0	15472	246	9	4	10308	4	SVEP1	9	113312321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	113312321	27901110	10309	20626											
MUSK	4593	broad.mit.edu	37	chr9	113509922	113509922	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttactctgtcaggTttcttctgggtccattcaag	7	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000374448.4	+	7	889	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000189978.5_Splice_Site_p.V252G|MUSK_ENST00000416899.2_Splice_Site_p.V252G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	252	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCTGTCAGGTTTCTTCTGGG	0.403																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.e7-1		muscle, skeletal, receptor tyrosine kinase							156	145	148					9																	113509922		1861	4116	5977	SO:0001630	splice_region_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113509922T>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.754-1T>G	9.37:g.113509922T>G						MUSK_ENST00000374448.4_Splice_Site_p.V252_splice|MUSK_ENST00000189978.5_Splice_Site_p.V252_splice	p.V252_splice			O15146	MUSK_HUMAN			7	881	+			252			Ig-like 3.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Splice_Site	SNP	ENST00000374448.4	37	c.753_splice	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565685	0.65651	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14144	2.53	5.78	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171752	0.51477	N	0.000083	T	0.36744	0.0978	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.989	T	0.14504	-1.0470	10	0.87932	D	0	.	11.383	0.49768	0.0:0.0:0.1518:0.8482	.	252;262	O15146;F5H6T2	MUSK_HUMAN;.	G	252;252;252;262;262;252	ENSP00000363571:V252G	ENSP00000189978:V252G	V	+	2	0	MUSK	112549743	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.359000	0.52292	0.994000	0.38892	0.533000	0.62120	GTT		0.403	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	32	696	0	0	0	1	0	32	696					G	113509922	T	G	113509922	5	3	79	1	0	0	0	0	0	0	1	0	10030	1739	60	4	815	4	MUSK	9	113509922	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	197601	113509922	27703509	10310	20627											
MUSK	4593	broad.mit.edu	37	chr9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacggcctgtgccagActgccacatctaggtaacac	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000374448.4	+	10	1481	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000416899.2_Missense_Mutation_p.R449S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	449	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGTGCCAGACTGCCACATC	0.468																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1345-1347)agA>agC		muscle, skeletal, receptor tyrosine kinase							133	130	131					9																	113538230		1916	4130	6046	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113538230A>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1347A>C	9.37:g.113538230A>C	ENSP00000363571:p.Arg449Ser					MUSK_ENST00000374448.4_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S	p.R449S			O15146	MUSK_HUMAN			9	1473	+			449			FZ.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1347A>C	CCDS48005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.10|11.10	1.538820|1.538820	0.27475|0.27475	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.74315|0.81739	-0.83|-1.53	5.74|5.74	4.61|4.61	0.57282|0.57282	Frizzled domain (1);|.	0.323968|.	0.36740|.	N|.	0.002427|.	T|T	0.78432|0.78432	0.4282|0.4282	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.75969|0.75969	-0.3130|-0.3130	10|7	0.49607|0.46703	T|T	0.09|0.11	.|.	7.9543|7.9543	0.30033|0.30033	0.8412:0.0:0.1588:0.0|0.8412:0.0:0.1588:0.0	.|.	449|.	O15146|.	MUSK_HUMAN|.	S|P	455;449;449;371;371;455|41	ENSP00000363571:R449S|ENSP00000363561:T41P	ENSP00000189978:R455S|ENSP00000363561:T41P	R|T	+|+	3|1	2|0	MUSK|MUSK	112578051|112578051	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.534000|0.534000	0.34807|0.34807	1.197000|1.197000	0.32211|0.32211	1.009000|1.009000	0.39289|0.39289	0.459000|0.459000	0.35465|0.35465	AGA|ACT		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				114	574	0	0	0	1	0	114	574					C	113538230	A	C	113538230	3	2	79	1	0	0	0	0	1	0	0	0	10030	272	10	4	1417	4	MUSK	9	113538230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28308	113538230	27675201	10311	20628											
MUSK	4593	broad.mit.edu	37	chr9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagatagacttcatcccaAccccatgtaccagaggatgc	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000374448.4	+	13	1786	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000416899.2_Missense_Mutation_p.N543S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	551					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCATCCCAACCCCATGTAC	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1627-1629)aAc>aGc		muscle, skeletal, receptor tyrosine kinase							238	228	231					9																	113547872		1979	4164	6143	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547872A>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1652A>G	9.37:g.113547872A>G	ENSP00000363571:p.Asn551Ser					MUSK_ENST00000374448.4_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S	p.N543S			O15146	MUSK_HUMAN			11	1754	+			551					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1628A>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659946	0.88154	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88431	-0.8;-2.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94182	0.7433	10	0.66056	D	0.02	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	551	O15146	MUSK_HUMAN	S	557;551;551;465;465;67;549;67	ENSP00000363571:N551S;ENSP00000363561:N67S	ENSP00000189978:N557S	N	+	2	0	MUSK	112587693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	2.241000	0.73720	0.533000	0.62120	AAC		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				120	755	0	0	0	1	0	120	755					G	113547872	A	G	113547872	3	3	79	1	0	0	0	0	1	0	0	0	10030	43	2	4	1734	4	MUSK	9	113547872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9642	113547872	27665559	10312	20629											
LPAR1	1902	broad.mit.edu	37	chr9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaacagtcagtctccgaGtattgggtcctgtgttgaac	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(337-339)aCt>aTt		lysophosphatidic acid receptor 1							151	153	152					9																	113704156		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704156G>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.338C>T	9.37:g.113704156G>A	ENSP00000363553:p.Thr113Ile					LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I	p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	721	-			113					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.338C>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474455	0.84640	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	18.45	0.90700	0.0:0.0:1.0:0.0	.	114;114;113	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	113;114;113;113;95;114;113	ENSP00000363553:T113I;ENSP00000445697:T114I;ENSP00000363552:T113I;ENSP00000351755:T113I;ENSP00000440201:T114I;ENSP00000401810:T113I	ENSP00000351755:T113I	T	-	2	0	LPAR1	112743977	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	ACT		0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		127	672	0	0	0	1	0	127	672					A	113704156	G	A	113704156	3	1	79	1	0	0	0	0	1	0	0	0	8942	1029	36	2	764	2	LPAR1	9	113704156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156284	113704156	27509275	10313	20630											
LPAR1	1902	broad.mit.edu	37	chr9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcagcagccagattagCcattaggtaataaataggaa	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	89					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(265-267)Gct>Act		lysophosphatidic acid receptor 1							99	107	104					9																	113704229		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704229C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.265G>A	9.37:g.113704229C>T	ENSP00000363553:p.Ala89Thr					LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T	p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	648	-			89					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.265G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953693	0.92660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.049120	0.85682	D	0.000000	T	0.79058	0.4382	L	0.39514	1.22	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.68621	0.91;0.959;0.91	T	0.81017	-0.1123	10	0.87932	D	0	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	90;90;89	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	89;90;89;89;71;90;89	ENSP00000363553:A89T;ENSP00000445697:A90T;ENSP00000363552:A89T;ENSP00000351755:A89T;ENSP00000440201:A90T;ENSP00000401810:A89T	ENSP00000351755:A89T	A	-	1	0	LPAR1	112744050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		110	555	0	0	0	1	0	110	555					T	113704229	C	T	113704229	3	4	79	1	0	0	0	0	1	0	0	0	8942	739	26	2	837	2	LPAR1	9	113704229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	113704229	27509202	10314	20631											
LPAR1	1902	broad.mit.edu	37	chr9	113704334	113704334	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacagtgattccaagtcCcatcaccagcttgctgactg	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704334C>A	ENST00000374431.3	-	4	543	c.160G>T	c.(160-162)Gga>Tga	p.G54*	LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	54					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTCCAAGTCCCATCACCAGC	0.443																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(160-162)Gga>Tga		lysophosphatidic acid receptor 1							119	105	110					9																	113704334		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704334C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.160G>T	9.37:g.113704334C>A	ENSP00000363553:p.Gly54*					LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*	p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	543	-			54					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.160G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	38	6.926339	0.97940	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	5.36	0.76844	.	0.100782	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	.	.	.	X	54;55;54;54;36;55;54	.	ENSP00000351755:G54X	G	-	1	0	LPAR1	112744155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.533000	0.85409	0.655000	0.94253	GGA		0.443	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		70	362	1	0	1.56214e-13	1	1.68846e-13	70	362					A	113704334	C	A	113704334	4	1	79	1	0	0	0	0	0	1	0	0	8942	632	22	3	942	3	LPAR1	9	113704334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	113704334	27509097	10315	20632											
OR2K2	26248	broad.mit.edu	37	chr9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacagtcaaatgggcaCcacaggtagaaaaagccttg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000374428.1	-	1	808	c.809G>T	c.(808-810)gGt>gTt	p.G270V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(808-810)gGt>gTt		olfactory receptor, family 2, subfamily K, member 2							121	118	119					9																	114089992		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089992C>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.809G>T	9.37:g.114089992C>A	ENSP00000363550:p.Gly270Val					OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V	p.G270V			Q8NGT1	OR2K2_HUMAN			1	808	-			270					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.809G>T		.	.	.	.	.	.	.	.	.	.	C	14.32	2.501482	0.44455	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.35421	1.31;1.31	4.55	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.442645	0.16571	U	0.208623	T	0.37758	0.1015	L	0.35414	1.06	0.49582	D	0.999805	D	0.55172	0.97	P	0.51615	0.675	T	0.20505	-1.0273	10	0.66056	D	0.02	.	11.2428	0.48979	0.0:0.6415:0.3585:0.0	.	270	Q8NGT1	OR2K2_HUMAN	V	241;270	ENSP00000305055:G241V;ENSP00000363550:G270V	ENSP00000305055:G241V	G	-	2	0	OR2K2	113129813	0.000000	0.05858	0.998000	0.56505	0.930000	0.56654	-0.218000	0.09240	1.237000	0.43756	0.591000	0.81541	GGT		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		59	311	1	0	5.08636e-23	1	5.77245e-23	59	311					A	114089992	C	A	114089992	3	1	79	1	0	0	0	0	1	0	0	0	11047	507	18	3	231	3	OR2K2	9	114089992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385658	114089992	27123439	10316	20633											
OR2K2	26248	broad.mit.edu	37	chr9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctccaagaaaaaaatgCtccaaatggtgaagttttct	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000374428.1	-	1	115	c.116G>A	c.(115-117)aGc>aAc	p.S39N	OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(115-117)aGc>aAc		olfactory receptor, family 2, subfamily K, member 2							47	50	49					9																	114090685		2203	4299	6502	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090685C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.116G>A	9.37:g.114090685C>T	ENSP00000363550:p.Ser39Asn					OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N	p.S39N			Q8NGT1	OR2K2_HUMAN			1	115	-			39					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.116G>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.194496	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00575	6.46;6.46	4.47	0.0536	0.14307	.	0.334685	0.21273	U	0.077285	T	0.00496	0.0016	L	0.39326	1.205	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.853	0.24024	0.0:0.5422:0.2849:0.1729	.	39	Q8NGT1	OR2K2_HUMAN	N	10;39	ENSP00000305055:S10N;ENSP00000363550:S39N	ENSP00000305055:S10N	S	-	2	0	OR2K2	113130506	0.009000	0.17119	0.027000	0.17364	0.973000	0.67179	-0.574000	0.05868	0.200000	0.20447	0.655000	0.94253	AGC		0.388	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		64	219	0	0	0	1	0	64	219					T	114090685	C	T	114090685	3	4	79	1	0	0	0	0	1	0	0	0	11047	797	28	2	924	2	OR2K2	9	114090685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	114090685	27122746	10317	20634											
KIAA0368	23392	broad.mit.edu	37	chr9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaactcctgcaggtataatCgaatgccaccaaaggatcct	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000338205.5	-	42	4766	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1522					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGTATAATCGAATGCCACC	0.383																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5080-5082)cGa>cAa		KIAA0368							70	67	68					9																	114134091		1828	4076	5904	SO:0001583	missense	23392							g.chr9:114134091C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4547G>A	9.37:g.114134091C>T	ENSP00000339889:p.Arg1516Gln					KIAA0368_ENST00000338205.5_Missense_Mutation_p.R1516Q|KIAA0368_ENST00000374378.3_5'UTR	p.R1694Q	NM_001080398.1	NP_001073867.1					44	5080	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.5081G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.312779	0.95655	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.50277	0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78049	2.395	0.80722	D	1	D	0.56521	0.976	P	0.52514	0.701	T	0.67348	-0.5693	10	0.56958	D	0.05	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	991	B3KXF2	.	Q	1516;1694;991	ENSP00000259335:R1694Q	ENSP00000259335:R1694Q	R	-	2	0	KIAA0368	113173912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	CGA		0.383	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		66	309	0	0	0	1	0	66	309					T	114134091	C	T	114134091	3	4	79	1	0	0	0	0	1	0	0	0	8201	884	31	1	1004	1	KIAA0368	9	114134091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43406	114134091	27079340	10318	20635											
KIAA0368	23392	broad.mit.edu	37	chr9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttttcttgctctgtcGcccggaggctcaaataattg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000338205.5	-	35	4157	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1319					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGCTCTGTCGCCCGGAGGCT	0.468																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(4471-4473)gCg>gTg		KIAA0368							95	92	93					9																	114140876		1896	4103	5999	SO:0001583	missense	23392							g.chr9:114140876G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3938C>T	9.37:g.114140876G>A	ENSP00000339889:p.Ala1313Val					KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1313V|KIAA0368_ENST00000374378.3_5'UTR	p.A1491V	NM_001080398.1	NP_001073867.1					37	4471	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.4472C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.203697	0.79127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.55588	0.51	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.79805	2.47	0.80722	D	1	P	0.39352	0.669	B	0.38296	0.27	T	0.64343	-0.6430	10	0.44086	T	0.13	.	19.3995	0.94621	0.0:0.0:1.0:0.0	.	788	B3KXF2	.	V	1313;1491;788	ENSP00000259335:A1491V	ENSP00000259335:A1491V	A	-	2	0	KIAA0368	113180697	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.645000	0.89757	0.563000	0.77884	GCG		0.468	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		78	319	0	0	0	1	0	78	319					A	114140876	G	A	114140876	3	1	79	1	0	0	0	0	1	0	0	0	8201	1087	38	1	1641	1	KIAA0368	9	114140876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6785	114140876	27072555	10319	20636											
KIAA0368	23392	broad.mit.edu	37	chr9	114178627	114178627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagttttcattcgatgAgaagcctaagtttaaaaagt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000338205.5	-	17	1908	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	KIAA0368_ENST00000259335.4_Silent_p.S741S			Q5VYK3	ECM29_HUMAN	KIAA0368	569					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTCGATGAGAAGCCTAAG	0.393																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2221-2223)tcT>tcC		KIAA0368							76	74	75					9																	114178627		1856	4105	5961	SO:0001819	synonymous_variant	23392							g.chr9:114178627A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1689T>C	9.37:g.114178627A>G						KIAA0368_ENST00000338205.5_Silent_p.S563S	p.S741S	NM_001080398.1	NP_001073867.1					19	2222	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.2223T>C																																																																																					0.393	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		29	134	0	0	0	1	0	29	134					G	114178627	A	G	114178627	2	3	79	1	0	0	0	0	0	0	0	1	8201	291	11	4		4	KIAA0368	9	114178627	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37751	114178627	27034804	10320	20637											
C9orf84	158401	broad.mit.edu	37	chr9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaataaattacctttctgaGagtacaatttgttacatgca	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000318737.4	-	25	4099	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y	C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTTCTGAGAGTACAATTT	0.373																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3853-3855)tCt>tAt		chromosome 9 open reading frame 84							73	76	75					9																	114454094		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454094G>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3971C>A	9.37:g.114454094G>T	ENSP00000322108:p.Ser1324Tyr					C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1324Y	p.S1285Y	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	4098	-			1324					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3854C>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.10573	2.86;2.92;2.88;2.88	5.29	4.39	0.52855	.	0.267845	0.27080	N	0.021025	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.57720	0.826;0.826;0.826	T	0.03739	-1.1008	10	0.87932	D	0	-5.3437	7.8994	0.29725	0.1807:0.0:0.8193:0.0	.	1250;1324;1285	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1285;1250;938;1324;1324	ENSP00000378259:S1285Y;ENSP00000378257:S1250Y;ENSP00000363405:S1324Y;ENSP00000322108:S1324Y	ENSP00000322108:S1324Y	S	-	2	0	C9orf84	113493915	1.000000	0.71417	0.434000	0.26772	0.393000	0.30537	1.863000	0.39459	1.457000	0.47850	0.467000	0.42956	TCT		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		27	327	1	0	1.77063e-15	1	1.9355e-15	27	327					T	114454094	G	T	114454094	3	4	79	1	0	0	0	0	1	0	0	0	2507	942	33	3	371	3	C9orf84	9	114454094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275467	114454094	26759337	10321	20638											
C9orf84	158401	broad.mit.edu	37	chr9	114454384	114454384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagaaaagacatctgaCtctgaatcactgtggtttag	8	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454384C>A	ENST00000318737.4	-	25	3809	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1188D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1227										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACATCTGACTCTGAATCAC	0.373																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3562-3564)gaG>gaT		chromosome 9 open reading frame 84							54	59	57					9																	114454384		2202	4300	6502	SO:0001583	missense	158401							g.chr9:114454384C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3681G>T	9.37:g.114454384C>A	ENSP00000322108:p.Glu1227Asp					C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1227D	p.E1188D	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	3808	-			1227					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3564G>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285060	0.40394	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06142	3.34;3.38;3.35;3.35	5.4	-2.56	0.06268	.	0.539342	0.16780	N	0.199831	T	0.03783	0.0107	L	0.32530	0.975	0.23227	N	0.998088	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.34453	-0.9828	10	0.49607	T	0.09	-0.0425	1.4932	0.02461	0.1172:0.2962:0.2293:0.3574	.	1153;1227;1188	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	D	1188;1153;841;1227;1227	ENSP00000378259:E1188D;ENSP00000378257:E1153D;ENSP00000363405:E1227D;ENSP00000322108:E1227D	ENSP00000322108:E1227D	E	-	3	2	C9orf84	113494205	0.193000	0.23313	0.326000	0.25389	0.930000	0.56654	-0.665000	0.05286	-0.743000	0.04784	0.467000	0.42956	GAG		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	354	1	0	0.000157383	1	0.000159814	7	354					A	114454384	C	A	114454384	3	1	79	1	0	0	0	0	1	0	0	0	2507	564	20	3	661	3	C9orf84	9	114454384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	114454384	26759047	10322	20639											
C9orf84	158401	broad.mit.edu	37	chr9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctttaacagaaaatAtctttttcaaatctgtaact	2	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000318737.4	-	10	1165	c.1037T>G	c.(1036-1038)aTa>aGa	p.I346R	C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAGAAAATATCTTTTTCAA	0.333																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(919-921)aTa>aGa		chromosome 9 open reading frame 84							89	90	90					9																	114500748		2202	4299	6501	SO:0001583	missense	158401							g.chr9:114500748A>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1037T>G	9.37:g.114500748A>C	ENSP00000322108:p.Ile346Arg					C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000318737.4_Missense_Mutation_p.I346R	p.I307R	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			8	1164	-			346					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.920T>G	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848526	0.32699	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.88	1.21	0.21127	.	0.960710	0.08668	N	0.911433	T	0.46698	0.1406	L	0.32530	0.975	0.09310	N	0.999998	P;P;D;D	0.57571	0.688;0.688;0.958;0.98	B;B;P;P	0.56700	0.246;0.246;0.748;0.804	T	0.32322	-0.9911	10	0.87932	D	0	0.4228	3.1529	0.06494	0.6338:0.0:0.191:0.1751	.	307;410;346;307	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	R	307;307;346;346;410	ENSP00000378259:I307R;ENSP00000378257:I307R;ENSP00000363405:I346R;ENSP00000322108:I346R;ENSP00000363401:I410R	ENSP00000322108:I346R	I	-	2	0	C9orf84	113540569	0.005000	0.15991	0.000000	0.03702	0.431000	0.31685	0.988000	0.29616	0.112000	0.17975	0.377000	0.23210	ATA		0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		67	303	0	0	0	1	0	67	303					C	114500748	A	C	114500748	3	2	79	1	0	0	0	0	1	0	0	0	2507	449	16	4	3365	4	C9orf84	9	114500748	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46364	114500748	26712683	10323	20640											
UGCG	7357	broad.mit.edu	37	chr9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaatttctcagtttcaatCcagaatgatcaggtaaatca	5	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	271					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(811-813)tCc>tTc		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						94	93	93					9																	114693625		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114693625C>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.812C>T	9.37:g.114693625C>T	ENSP00000363397:p.Ser271Phe						p.S271F	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	7	1262	+			271					Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.812C>T	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879392	0.91740	.	.	ENSG00000148154	ENST00000374279	T	0.59638	0.25	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.59889	0.865	T	0.68383	-0.5423	10	0.56958	D	0.05	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	271	Q16739	CEGT_HUMAN	F	271	ENSP00000363397:S271F	ENSP00000363397:S271F	S	+	2	0	UGCG	113733446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.800000	0.62524	2.831000	0.97527	0.650000	0.86243	TCC		0.338	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		27	179	0	0	0	1	0	27	179					T	114693625	C	T	114693625	3	4	79	1	0	0	0	0	1	0	0	0	16993	855	30	2	838	2	UGCG	9	114693625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192877	114693625	26519806	10324	20641											
SUSD1	64420	broad.mit.edu	37	chr9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcctctgtgcaccgtaAaaaattctacttccgggagg	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	594						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1780-1782)tTt>tGt		sushi domain containing 1							115	122	119					9																	114825286		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114825286A>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1781T>G	9.37:g.114825286A>C	ENSP00000363388:p.Phe594Cys					SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			13	1953	-			594					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1781T>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.38|12.38	1.921354|1.921354	0.33908|0.33908	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|T	0.29917|0.52295	1.55;1.55;1.55|0.67	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.349077|0.349077	0.20881|0.20881	N|N	0.083985|0.083985	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.59436|0.59436	1.845|1.845	0.29950|0.29950	N|N	0.820311|0.820311	D;D;D|.	0.67145|.	0.996;0.969;0.988|.	P;P;P|.	0.56216|.	0.794;0.719;0.533|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|8	0.59425|0.72032	D|D	0.04|0.01	-5.4508|-5.4508	12.8644|12.8644	0.57932|0.57932	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;594;594|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|L	594|577	ENSP00000363388:F594C;ENSP00000363381:F594C;ENSP00000363382:F594C|ENSP00000347558:F577L	ENSP00000363381:F594C|ENSP00000347558:F577L	F|F	-|-	2|3	0|2	SUSD1|SUSD1	113865107|113865107	0.454000|0.454000	0.25728|0.25728	0.226000|0.226000	0.23910|0.23910	0.005000|0.005000	0.04900|0.04900	2.006000|2.006000	0.40874|0.40874	2.031000|2.031000	0.59945|0.59945	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.483	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		109	376	0	0	0	1	0	109	376					C	114825286	A	C	114825286	3	2	79	1	0	0	0	0	1	0	0	0	15459	14	1	4	482	4	SUSD1	9	114825286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131661	114825286	26388145	10325	20642											
SUSD1	64420	broad.mit.edu	37	chr9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtcctgctgtctgtgGtcaagttgactgtctcctca	12	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	350						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1048-1050)aCc>aTc		sushi domain containing 1							269	224	240					9																	114874056		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114874056G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1049C>T	9.37:g.114874056G>A	ENSP00000363388:p.Thr350Ile					SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			8	1221	-			350					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1049C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624689|3.624689	0.66901|0.66901	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.79;-0.81;-0.86	5.61|5.61	4.69|4.69	0.59074|0.59074	.|.	.|0.132704	.|0.34652	.|N	.|0.003797	D|D	0.85256|0.85256	0.5655|0.5655	M|M	0.82823|0.82823	2.61|2.61	0.32752|0.32752	N|N	0.506256|0.506256	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	D|D	0.87466|0.87466	0.2411|0.2411	5|10	.|0.30854	.|T	.|0.27	-7.586|-7.586	12.0414|12.0414	0.53454|0.53454	0.0:0.0:0.8275:0.1725|0.0:0.0:0.8275:0.1725	.|.	.|350;350;350	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|I	164|350	.|ENSP00000363388:T350I;ENSP00000363381:T350I;ENSP00000363382:T350I	.|ENSP00000363381:T350I	P|T	-|-	1|2	0|0	SUSD1|SUSD1	113913877|113913877	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	3.367000|3.367000	0.52350|0.52350	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.532	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		63	297	0	0	0	1	0	63	297					A	114874056	G	A	114874056	3	1	79	1	0	0	0	0	1	0	0	0	15459	1261	44	2	1234	2	SUSD1	9	114874056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48770	114874056	26339375	10326	20643											
KIAA1958	158405	broad.mit.edu	37	chr9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttcatacctcatctgaGaatctgtccaaattggtcag	7	10	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(28-30)gaG>gaT		KIAA1958							82	80	80					9																	115336390		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336390G>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.30G>T	9.37:g.115336390G>T	ENSP00000336940:p.Glu10Asp					KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	326	+			10					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.30G>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825386	0.32237	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.92	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.17109	0.0411	N	0.03608	-0.345	0.35121	D	0.767021	P;B	0.38020	0.615;0.384	B;B	0.36186	0.219;0.112	T	0.15093	-1.0449	9	0.45353	T	0.12	-2.8457	5.2392	0.15462	0.5361:0.0:0.4639:0.0	.	10;10	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	10	.	ENSP00000336940:E10D	E	+	3	2	KIAA1958	114376211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.605000	0.46283	0.855000	0.35359	-0.266000	0.10368	GAG		0.438	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		67	297	1	0	2.69673e-31	1	3.17273e-31	67	297					T	115336390	G	T	115336390	3	4	79	1	0	0	0	0	1	0	0	0	8294	933	33	3	32	3	KIAA1958	9	115336390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462334	115336390	25877041	10327	20644											
KIAA1958	158405	broad.mit.edu	37	chr9	115421560	115421560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagatccctgcagtgaagttGaacgagctgctcgagaactt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	454										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1360-1362)ttG>ttA		KIAA1958							87	74	78					9																	115421560		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115421560G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1362G>A	9.37:g.115421560G>A						KIAA1958_ENST00000536272.1_Silent_p.L482L	p.L454L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1658	+			454					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1362G>A	CCDS35108.1																																																																																				0.552	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		72	365	0	0	0	1	0	72	365					A	115421560	G	A	115421560	2	1	79	1	0	0	0	0	0	0	0	1	8294	1281	45	2		2	KIAA1958	9	115421560	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85170	115421560	25791871	10328	20645											
KIAA1958	158405	broad.mit.edu	37	chr9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcaggcatgtcgggcgCgcgttctcgcaacatcgtct	13	12	2	0	rs200477840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1573-1575)gCg>gTg		KIAA1958							61	51	54					9																	115421772		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115421772C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1574C>T	9.37:g.115421772C>T	ENSP00000336940:p.Ala525Val					KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	p.A525V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1870	+			525					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1574C>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601652	0.46423	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.26310	N	0.977833	P;P	0.44006	0.824;0.53	B;B	0.33121	0.158;0.048	T	0.13176	-1.0519	8	0.27785	T	0.31	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	553;525	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	525;553	.	ENSP00000336940:A525V	A	+	2	0	KIAA1958	114461593	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.033000	0.41136	2.676000	0.91093	0.655000	0.94253	GCG		0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		18	112	0	0	0	1	0	18	112					T	115421772	C	T	115421772	3	4	79	1	0	0	0	0	1	0	0	0	8294	768	27	1	1584	1	KIAA1958	9	115421772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	115421772	25791659	10329	20646											
SLC46A2	57864	broad.mit.edu	37	chr9	115652542	115652542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatagcccgttcagcgcCgccgccccgtacagcacctc	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	140					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(418-420)gcG>gcA		solute carrier family 46, member 2							23	28	26					9																	115652542		2198	4290	6488	SO:0001819	synonymous_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652542C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.420G>A	9.37:g.115652542C>T							p.A140A	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	651	-			140					B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	c.420G>A	CCDS6786.1																																																																																				0.692	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		43	238	0	0	0	1	0	43	238					T	115652542	C	T	115652542	2	4	79	1	0	0	0	0	0	0	0	1	14695	639	23	1		1	SLC46A2	9	115652542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230770	115652542	25560889	10330	20647											
FKBP15	23307	broad.mit.edu	37	chr9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcccagccagtcaatgtCatcgtcatcatcatcatctc	4	15	8	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1214	Poly-Asp.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(3640-3642)Gac>Aac		FK506 binding protein 15, 133kDa							61	64	63					9																	115928378		2000	4183	6183	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115928378C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3640G>A	9.37:g.115928378C>T	ENSP00000238256:p.Asp1214Asn						p.D1214N	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			28	3757	-			1214			Poly-Asp.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.3640G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193798	0.94960	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.56352	0.1979	L	0.51422	1.61	0.41849	D	0.990163	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57100	-0.7869	9	0.87932	D	0	-9.6325	17.3254	0.87245	0.0:1.0:0.0:0.0	.	795;1214	B4DVS2;Q5T1M5	.;FKB15_HUMAN	N	1239;1214	ENSP00000416158:D1239N;ENSP00000238256:D1214N	ENSP00000238256:D1214N	D	-	1	0	FKBP15	114968199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	2.687000	0.91594	0.563000	0.77884	GAC		0.527	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		18	98	0	0	0	1	0	18	98					T	115928378	C	T	115928378	3	4	79	1	0	0	0	0	1	0	0	0	5930	826	29	2	23	2	FKBP15	9	115928378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275836	115928378	25285053	10331	20648											
FKBP15	23307	broad.mit.edu	37	chr9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctccaacttctacagCagggccgtctgccacaatga	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	193					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502																																						ENST00000238256.3																			2	Substitution - Missense(2)	p.A218T(1)|p.A193T(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(577-579)Gct>Act		FK506 binding protein 15, 133kDa							50	50	50					9																	115962165		1985	4161	6146	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115962165C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.577G>A	9.37:g.115962165C>T	ENSP00000238256:p.Ala193Thr						p.A193T	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			7	694	-			193					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.577G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615398	0.87359	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	3.72	0.42706	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	.	.	.	.	D	0.83926	0.5360	L	0.37507	1.11	0.32142	N	0.585427	P;D;P	0.57571	0.57;0.98;0.783	B;P;P	0.53689	0.444;0.732;0.661	D	0.84920	0.0853	9	0.66056	D	0.02	-8.9134	9.7822	0.40656	0.1546:0.7608:0.0:0.0846	.	193;193;193	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	T	218;193;218	ENSP00000416158:A218T;ENSP00000238256:A193T;ENSP00000415733:A218T	ENSP00000238256:A193T	A	-	1	0	FKBP15	115001986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.444000	0.47605	0.655000	0.94253	GCT		0.502	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		16	87	0	0	0	1	0	16	87					T	115962165	C	T	115962165	3	4	79	1	0	0	0	0	1	0	0	0	5930	710	25	2	3170	2	FKBP15	9	115962165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33787	115962165	25251266	10332	20649											
FKBP15	23307	broad.mit.edu	37	chr9	115965247	115965247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagtcttaccattagCtcaaagttcacatgaatcct	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	131	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(391-393)gaG>gaA		FK506 binding protein 15, 133kDa							80	73	75					9																	115965247		1868	4120	5988	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115965247C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.393G>A	9.37:g.115965247C>T							p.E131E	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			5	510	-			131			Important for function in growth cone organization (By similarity).		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.393G>A	CCDS48007.1																																																																																				0.378	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		16	84	0	0	0	1	0	16	84					T	115965247	C	T	115965247	2	4	79	1	0	0	0	0	0	0	0	1	5930	796	28	2		2	FKBP15	9	115965247	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	115965247	25248184	10333	20650											
WDR31	114987	broad.mit.edu	37	chr9	116094247	116094247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcacgacacaaaacCtaaacgaaaccttctgtgga	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374193.4	-	3	302	c.56G>T	c.(55-57)aGg>aTg	p.R19M	WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	19										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463																																						ENST00000374195.3																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6								WD repeat domain 31							164	137	146					9																	116094247		2203	4300	6503	SO:0001583	missense	114987							g.chr9:116094247C>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.56G>T	9.37:g.116094247C>A	ENSP00000363308:p.Arg19Met					WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374193.4_Missense_Mutation_p.R19M				Q8NA23	WDR31_HUMAN			0	274	-								Q5W0T9|Q96EG8	Translation_Start_Site	SNP	ENST00000374193.4	37		CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219539	0.22373	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66815	-0.2;-0.23	5.87	-0.0403	0.13872	.	1.347990	0.04219	N	0.333086	T	0.56804	0.2010	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.28584	0.138;0.216	B;B	0.34385	0.088;0.181	T	0.47086	-0.9144	10	0.42905	T	0.14	5.335	0.6637	0.00847	0.1702:0.3512:0.1655:0.3131	.	19;19	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	M	19	ENSP00000363308:R19M;ENSP00000345027:R19M	ENSP00000345027:R19M	R	-	2	0	WDR31	115134068	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.073000	0.14640	0.379000	0.24794	0.650000	0.86243	AGG		0.463	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		37	254	1	0	2.75727e-19	1	3.0731e-19	37	254					A	116094247	C	A	116094247	3	1	79	1	0	0	0	0	1	0	0	0	17340	681	24	3	1083	3	WDR31	9	116094247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129000	116094247	25119184	10334	20651											
C9orf43	257169	broad.mit.edu	37	chr9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacatccagttaccaccGttcatgaccgtctctatggt	6	12	2	1	rs145109883	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1012-1014)Gtt>Att		chromosome 9 open reading frame 43		G	ILE/VAL	0,4406		0,0,2203	143	118	126		1012	-3.6	0	9	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	338/462	116187992	1,13005	2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187992G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1012G>A	9.37:g.116187992G>A	ENSP00000288462:p.Val338Ile					C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			11	1458	+			338						Missense_Mutation	SNP	ENST00000288462.4	37	c.1012G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	C9orf43	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT		0.478	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		53	264	0	0	0	1	0	53	264					A	116187992	G	A	116187992	3	1	79	1	0	0	0	0	1	0	0	0	2490	1145	40	1	1050	1	C9orf43	9	116187992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93745	116187992	25025439	10335	20652											
RGS3	5998	broad.mit.edu	37	chr9	116353676	116353676	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagaaagagcaaaaacCtgtacgttgggaagatccct	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000343817.5_Splice_Site_p.L746L|RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Splice_Site_p.L420L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1027					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e22+1		regulator of G-protein signaling 3							94	86	89					9																	116353676		2203	4300	6503	SO:0001630	splice_region_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353676C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3080+1C>T	9.37:g.116353676C>T						RGS3_ENST00000343817.5_Splice_Site_p.L746_splice|RGS3_ENST00000394646.3_Splice_Site_p.L420_splice|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Splice_Site_p.L348_splice|RGS3_ENST00000350696.5_Splice_Site_p.L1027_splice|RGS3_ENST00000462143.1_Splice_Site_p.L348_splice	p.L1027_splice	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			22	3288	+			1027					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	ENST00000374140.2	37	c.3080_splice	CCDS43869.1																																																																																				0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Silent	45	194	0	0	0	1	0	45	194					T	116353676	C	T	116353676	5	4	79	1	0	0	0	0	0	0	1	0	13356	695	24	2	3414	2	RGS3	9	116353676	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165684	116353676	24859755	10336	20653											
AMBP	259	broad.mit.edu	37	chr9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccgcactcacccacagttCggcaggtctgcagacactcc	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(844-846)cGa>cAa		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						74	70	71					9																	116823712		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823712C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.845G>A	9.37:g.116823712C>T	ENSP00000265132:p.Arg282Gln						p.R282Q	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1107	-			282					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.845G>A	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	AMBP	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA		0.547	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		85	452	0	0	0	1	0	85	452					T	116823712	C	T	116823712	3	4	79	1	0	0	0	0	1	0	0	0	564	884	31	1	225	1	AMBP	9	116823712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	470036	116823712	24389719	10337	20654											
AMBP	259	broad.mit.edu	37	chr9	116840415	116840415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttggatgttgtcgggCggcgttggcacagggccagc	17	10	0	0	rs200238441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		17510	0.003		0.0	False		,,,				2504	0.0031					ENST00000265132.3																			2	Substitution - coding silent(2)	p.P25P(2)	breast(1)|kidney(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(73-75)ccG>ccA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						111	121	117					9																	116840415		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840415C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.75G>A	9.37:g.116840415C>T							p.P25P	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			1	337	-			25					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.75G>A	CCDS6800.1																																																																																				0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		113	493	0	0	0	1	0	113	493					T	116840415	C	T	116840415	2	4	79	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	116840415	24373016	10338	20655											
KIF12	113220	broad.mit.edu	37	chr9	116856514	116856514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcccgtacaggttccgCtgggcccaggccacccgggc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	415	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(844-846)caG>caA		kinesin family member 12							57	61	60					9																	116856514		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116856514C>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.846G>A	9.37:g.116856514C>T						KIF12_ENST00000473174.1_Intron	p.Q282Q	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			10	1083	-			415			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.846G>A	CCDS6801.1																																																																																				0.632	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		75	387	0	0	0	1	0	75	387					T	116856514	C	T	116856514	2	4	79	1	0	0	0	0	0	0	0	1	8303	796	28	2		2	KIF12	9	116856514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16099	116856514	24356917	10339	20656											
COL27A1	85301	broad.mit.edu	37	chr9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggcctgccgggacccCgtgggcagctggggcccgag	18	16	0	0	rs200705000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	939	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCGGGACCCCGTGGGCAGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17520	0.0		0.0	False		,,,				2504	0.001					ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2815-2817)Cgt>Tgt		collagen, type XXVII, alpha 1		C	CYS/ARG	0,4406		0,0,2203	70	80	76		2815	0	0.9	9		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL27A1	NM_032888.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	939/1861	117002747	1,13005	2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117002747C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2815C>T	9.37:g.117002747C>T	ENSP00000348385:p.Arg939Cys						p.R939C	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			21	3206	+			939			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2815C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906833	0.52333	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	5.91	0.00205	0.14048	.	.	.	.	.	D	0.91855	0.7422	M	0.88704	2.975	0.40930	D	0.984383	B	0.11235	0.004	B	0.11329	0.006	D	0.85687	0.1304	9	0.56958	D	0.05	.	3.6787	0.08302	0.4976:0.2923:0.126:0.0841	.	939	Q8IZC6	CORA1_HUMAN	C	939	ENSP00000348385:R939C	ENSP00000348385:R939C	R	+	1	0	COL27A1	116042568	0.873000	0.30073	0.948000	0.38648	0.996000	0.88848	1.396000	0.34531	0.070000	0.16634	-0.140000	0.14226	CGT		0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		171	608	0	0	0	1	0	171	608					T	117002747	C	T	117002747	3	4	79	1	0	0	0	0	1	0	0	0	3694	652	23	1	2897	1	COL27A1	9	117002747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146233	117002747	24210684	10340	20657											
COL27A1	85301	broad.mit.edu	37	chr9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagggaaagcaaggcaagGcaggggccccaggccggagg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1411	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGGCAAGGCAGGGGCCCC	0.647																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4231-4233)Gca>Aca		collagen, type XXVII, alpha 1							39	46	44					9																	117052362		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052362G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4231G>A	9.37:g.117052362G>A	ENSP00000348385:p.Ala1411Thr						p.A1411T	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			46	4622	+			1411			Collagen-like 13.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4231G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93488	-3.23	4.89	3.96	0.45880	.	.	.	.	.	D	0.82921	0.5142	N	0.08118	0	0.22571	N	0.998973	P	0.45044	0.849	B	0.39617	0.305	T	0.73206	-0.4056	9	0.13853	T	0.58	.	9.7579	0.40515	0.0:0.279:0.721:0.0	.	1411	Q8IZC6	CORA1_HUMAN	T	1411	ENSP00000348385:A1411T	ENSP00000348385:A1411T	A	+	1	0	COL27A1	116092183	0.971000	0.33674	0.993000	0.49108	0.922000	0.55478	0.880000	0.28159	2.249000	0.74217	0.491000	0.48974	GCA		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		79	301	0	0	0	1	0	79	301					A	117052362	G	A	117052362	3	1	79	1	0	0	0	0	1	0	0	0	3694	1203	42	2	4413	2	COL27A1	9	117052362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49615	117052362	24161069	10341	20658											
COL27A1	85301	broad.mit.edu	37	chr9	117069983	117069983	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccaaaccttggctgctcCtctgacaccatcgaggtctc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1714	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGCTGCTCCTCTGACACCA	0.567																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5140-5142)tcC>tcA		collagen, type XXVII, alpha 1							235	177	197					9																	117069983		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117069983C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5142C>A	9.37:g.117069983C>A							p.S1714S	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			59	5533	+			1714			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5142C>A	CCDS6802.1																																																																																				0.567	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		84	385	1	0	2.01383e-38	1	2.42724e-38	84	385					A	117069983	C	A	117069983	2	1	79	1	0	0	0	0	0	0	0	1	3694	668	24	3		3	COL27A1	9	117069983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17621	117069983	24143448	10342	20659											
AKNA	80709	broad.mit.edu	37	chr9	117120303	117120303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactttggtgggatgctgcGgacttggtgcctggagggtg	18	7	0	0	rs557155287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000223791.3_Silent_p.S339S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	879					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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		18481	0.0		0.0	False		,,,				2504	0.001					ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(2635-2637)tcC>tcT		AT-hook transcription factor							65	64	64					9																	117120303		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117120303G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2637C>T	9.37:g.117120303G>A						AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000374088.3_Silent_p.S879S	p.S879S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			12	2798	-			879					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.2637C>T	CCDS6805.1																																																																																				0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		58	330	0	0	0	1	0	58	330					A	117120303	G	A	117120303	2	1	79	1	0	0	0	0	0	0	0	1	463	1103	39	1		1	AKNA	9	117120303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50320	117120303	24093128	10343	20660											
DFNB31	25861	broad.mit.edu	37	chr9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaatggtgcctctcacCtcagagaggagtgagaactg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	478					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTCACCTCAGAGAGGA	0.627																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1432-1434)gaG>gaT		deafness, autosomal recessive 31							57	56	56					9																	117185786		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185786C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1434G>T	9.37:g.117185786C>A	ENSP00000354623:p.Glu478Asp					DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D|DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D	p.E478D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			7	1602	-			478					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1434G>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702839	0.48307	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.13089	3.48;3.44;2.62	5.3	2.45	0.29901	.	0.206212	0.42548	N	0.000694	T	0.11922	0.0290	L	0.46947	1.48	0.52501	D	0.999955	B;B;B	0.29590	0.063;0.25;0.174	B;B;B	0.31390	0.129;0.129;0.126	T	0.09164	-1.0687	10	0.49607	T	0.09	-27.4925	6.1806	0.20470	0.1321:0.6567:0.0:0.2112	.	478;478;127	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	95;127;478	ENSP00000265134:E95D;ENSP00000363172:E127D;ENSP00000354623:E478D	ENSP00000265134:E95D	E	-	3	2	DFNB31	116225607	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.725000	0.25970	0.240000	0.21263	0.555000	0.69702	GAG		0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		43	369	1	0	1.7489e-18	1	1.94175e-18	43	369					A	117185786	C	A	117185786	3	1	79	1	0	0	0	0	1	0	0	0	4471	680	24	3	1313	3	DFNB31	9	117185786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65483	117185786	24027645	10344	20661											
TNFSF8	944	broad.mit.edu	37	chr9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctggtatacgtgtttcGtttgcattccagactcacac	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(547-549)aCg>aTg		tumor necrosis factor (ligand) superfamily, member 8							260	225	237					9																	117666368		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666368G>A	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.548C>T	9.37:g.117666368G>A	ENSP00000223795:p.Thr183Met					TNFSF8_ENST00000474301.1_Intron	p.T183M	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	661	-			183					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.548C>T	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039876	0.19669	.	.	ENSG00000106952	ENST00000223795	T	0.45276	0.9	5.78	0.459	0.16678	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.606253	0.16417	N	0.215354	T	0.23054	0.0557	L	0.27053	0.805	0.09310	N	1	P	0.44776	0.843	B	0.35813	0.211	T	0.11743	-1.0575	10	0.66056	D	0.02	-10.4583	6.132	0.20211	0.0703:0.3736:0.4276:0.1285	.	183	P32971	TNFL8_HUMAN	M	183	ENSP00000223795:T183M	ENSP00000223795:T183M	T	-	2	0	TNFSF8	116706189	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	-0.172000	0.10779	-0.119000	0.15052	ACG		0.423	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			84	508	0	0	0	1	0	84	508					A	117666368	G	A	117666368	3	1	79	1	0	0	0	0	1	0	0	0	16363	1145	40	1	160	1	TNFSF8	9	117666368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	480582	117666368	23547063	10345	20662											
TNFSF8	944	broad.mit.edu	37	chr9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggagaatgccatctttgTtccaagacaacttggttttg	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	116					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(346-348)aAc>aGc		tumor necrosis factor (ligand) superfamily, member 8							139	136	137					9																	117666569		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666569T>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.347A>G	9.37:g.117666569T>C	ENSP00000223795:p.Asn116Ser					TNFSF8_ENST00000474301.1_5'UTR	p.N116S	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	460	-			116					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.347A>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632859	0.67015	.	.	ENSG00000106952	ENST00000223795	D	0.94232	-3.38	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.078972	0.53938	D	0.000050	D	0.92763	0.7699	L	0.29908	0.895	0.33043	D	0.531677	D	0.59767	0.986	P	0.59595	0.86	D	0.93475	0.6822	10	0.31617	T	0.26	-27.2485	13.3596	0.60648	0.0:0.0:0.0:1.0	.	116	P32971	TNFL8_HUMAN	S	116	ENSP00000223795:N116S	ENSP00000223795:N116S	N	-	2	0	TNFSF8	116706390	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	2.148000	0.66965	0.533000	0.62120	AAC		0.383	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			119	475	0	0	0	1	0	119	475					C	117666569	T	C	117666569	3	2	79	1	0	0	0	0	1	0	0	0	16363	1725	60	4	361	4	TNFSF8	9	117666569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	201	117666569	23546862	10346	20663											
TNFSF8	944	broad.mit.edu	37	chr9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccgccggcacatgcatgGctgtgtctccaggaggggcc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	19					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(55-57)gCc>gAc		tumor necrosis factor (ligand) superfamily, member 8							81	83	82					9																	117692528		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692528G>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.56C>A	9.37:g.117692528G>T	ENSP00000223795:p.Ala19Asp						p.A19D	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			1	169	-			19					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.56C>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309749	0.23821	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.57	0.56435	.	0.205833	0.33875	N	0.004480	T	0.50599	0.1625	L	0.32530	0.975	0.46131	D	0.998883	P	0.50443	0.935	P	0.50490	0.642	T	0.54549	-0.8277	9	0.87932	D	0	-12.895	11.6842	0.51476	0.0822:0.0:0.9178:0.0	.	19	P32971	TNFL8_HUMAN	D	19	.	ENSP00000223795:A19D	A	-	2	0	TNFSF8	116732349	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.109000	0.50345	1.306000	0.44926	0.544000	0.68410	GCC		0.567	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			102	532	1	0	1.08058e-43	1	1.32003e-43	102	532					T	117692528	G	T	117692528	3	4	79	1	0	0	0	0	1	0	0	0	16363	1203	42	3	664	3	TNFSF8	9	117692528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25959	117692528	23520903	10347	20664											
TNC	3371	broad.mit.edu	37	chr9	117826322	117826322	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcccacctcggccaccacGacctctcccaaattgggagt	8	18	1	0	rs562793021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826322G>A	ENST00000350763.4	-	12	3924	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1171	Fibronectin type-III 7. {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)			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						CGGCCACCACGACCTCTCCCA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17576	0.001		0.0	False		,,,				2504	0.0					ENST00000350763.4																			0				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						c.(3511-3513)gtC>gtT		tenascin C							95	102	100					9																	117826322		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826322G>A		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.3513C>T	9.37:g.117826322G>A						TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000542877.1_Intron	p.V1171V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			12	3924	-			1171			Fibronectin type-III 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.3513C>T	CCDS6811.1																																																																																				0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		28	800	0	0	0	1	0	28	800					A	117826322	G	A	117826322	2	1	79	1	0	0	0	0	0	0	0	1	16322	1045	37	1		1	TNC	9	117826322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133794	117826322	23387109	10348	20665											
TNC	3371	broad.mit.edu	37	chr9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcctcagcagagaGcactggtgttctatagccct	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000350763.4	-	11	3877	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1156	Fibronectin type-III 6. {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)			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						TCAGCAGAGAGCACTGGTGTT	0.512																																						ENST00000350763.4																			0				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						c.(3466-3468)Ctc>Ttc		tenascin C							170	178	175					9																	117826947		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826947G>A		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.3466C>T	9.37:g.117826947G>A	ENSP00000265131:p.Leu1156Phe					TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron	p.L1156F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3877	-			1156			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3466C>T	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.728820|3.728820	0.69074|0.69074	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|T;T;T	.|0.05081	.|3.5;3.5;3.5	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.957;0.998	.|P;D	.|0.70487	.|0.771;0.969	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.72032	.|D	.|0.01	.|.	19.1513|19.1513	0.93491|0.93491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1156	.|E9PC84;P24821	.|.;TENA_HUMAN	V|F	82|1156	.|ENSP00000265131:L1156F;ENSP00000339553:L1156F;ENSP00000411406:L1156F	.|ENSP00000339553:L1156F	A|L	-|-	2|1	0|0	TNC|TNC	116866768|116866768	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.647000|4.647000	0.61418|0.61418	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GCT|CTC		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		181	1023	0	0	0	1	0	181	1023					A	117826947	G	A	117826947	3	1	79	1	0	0	0	0	1	0	0	0	16322	971	34	2	3211	2	TNC	9	117826947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	625	117826947	23386484	10349	20666											
TNC	3371	broad.mit.edu	37	chr9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggcctcctgcacctgAatgataaagtgctcataggc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000350763.4	-	11	3729	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1106	Fibronectin type-III 6. {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)			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						CCTGCACCTGAATGATAAAGT	0.602																																						ENST00000350763.4																			0				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						c.(3316-3318)atT>atG		tenascin C							107	90	96					9																	117827095		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117827095A>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.3318T>G	9.37:g.117827095A>C	ENSP00000265131:p.Ile1106Met					TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron	p.I1106M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3729	-			1106			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3318T>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.406097|2.406097	0.42715|0.42715	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	3.2|3.2	0.36748|0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.069034|.	0.56097|.	D|.	0.000025|.	T|T	0.65780|0.65780	0.2724|0.2724	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.988|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.87932|.	D|.	0|.	.|.	0.971|0.971	0.01416|0.01416	0.4264:0.1535:0.2724:0.1477|0.4264:0.1535:0.2724:0.1477	.|.	1106;1106|.	E9PC84;P24821|.	.;TENA_HUMAN|.	M|A	1106|33	ENSP00000265131:I1106M;ENSP00000339553:I1106M;ENSP00000411406:I1106M|.	ENSP00000339553:I1106M|.	I|S	-|-	3|1	3|0	TNC|TNC	116866916|116866916	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	0.097000|0.097000	0.15168|0.15168	0.377000|0.377000	0.24735|0.24735	-0.408000|-0.408000	0.06270|0.06270	ATT|TCA		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		96	486	0	0	0	1	0	96	486					C	117827095	A	C	117827095	3	2	79	1	0	0	0	0	1	0	0	0	16322	242	9	4	3359	4	TNC	9	117827095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	117827095	23386336	10350	20667											
TNC	3371	broad.mit.edu	37	chr9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgaatttcaggccttcaGgtgcaggtaagtctgtaagt	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000350763.4	-	5	2555	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	715	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)			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						CAGGCCTTCAGGTGCAGGTAA	0.468																																						ENST00000350763.4																			0				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						c.(2143-2145)cCt>cAt		tenascin C							109	95	100					9																	117845074		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117845074G>T		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.2144C>A	9.37:g.117845074G>T	ENSP00000265131:p.Pro715His					TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H	p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			5	2555	-			715			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2144C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908000	0.92107	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-0.68;-1.32;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.050234	0.85682	D	0.000000	D	0.90188	0.6933	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90283	0.4316	10	0.87932	D	0	.	20.2092	0.98286	0.0:0.0:1.0:0.0	.	715;715	E9PC84;P24821	.;TENA_HUMAN	H	715	ENSP00000344400:P715H;ENSP00000438152:P715H;ENSP00000344555:P715H;ENSP00000345861:P715H;ENSP00000265131:P715H;ENSP00000339553:P715H;ENSP00000411406:P715H;ENSP00000443478:P715H;ENSP00000442242:P715H	ENSP00000344400:P715H	P	-	2	0	TNC	116884895	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.776000	0.95493	0.655000	0.94253	CCT		0.468	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		25	225	1	0	1.1804e-14	1	1.28451e-14	25	225					T	117845074	G	T	117845074	3	4	79	1	0	0	0	0	1	0	0	0	16322	1000	35	3	4557	3	TNC	9	117845074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17979	117845074	23368357	10351	20668											
TNC	3371	broad.mit.edu	37	chr9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctggcgctgacaggAatgctcttcttgttctccag	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000350763.4	-	4	2517	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	702	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)			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						CGCTGACAGGAATGCTCTTCT	0.577																																						ENST00000350763.4																			0				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						c.(2104-2106)atT>atG		tenascin C							90	84	86					9																	117846513		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846513A>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.2106T>G	9.37:g.117846513A>C	ENSP00000265131:p.Ile702Met					TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M	p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			4	2517	-			702			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2106T>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399001	0.62177	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53857	3.62;0.6;3.62;0.6;0.6;0.6;0.6;0.6;0.6	5.93	0.837	0.18896	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148317	0.64402	D	0.000010	T	0.64692	0.2621	M	0.63428	1.95	0.47308	D	0.999389	D;D	0.71674	0.998;0.996	D;D	0.76575	0.988;0.988	T	0.63492	-0.6625	10	0.62326	D	0.03	.	10.121	0.42621	0.6001:0.0:0.3999:0.0	.	702;702	E9PC84;P24821	.;TENA_HUMAN	M	702	ENSP00000344400:I702M;ENSP00000438152:I702M;ENSP00000344555:I702M;ENSP00000345861:I702M;ENSP00000265131:I702M;ENSP00000339553:I702M;ENSP00000411406:I702M;ENSP00000443478:I702M;ENSP00000442242:I702M	ENSP00000344400:I702M	I	-	3	3	TNC	116886334	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.856000	0.27818	0.146000	0.19002	0.533000	0.62120	ATT		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		59	311	0	0	0	1	0	59	311					C	117846513	A	C	117846513	3	2	79	1	0	0	0	0	1	0	0	0	16322	242	9	4	4599	4	TNC	9	117846513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1439	117846513	23366918	10352	20669											
TNC	3371	broad.mit.edu	37	chr9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgtgtacacgacaaGgtactctgtgacccgcatct	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000350763.4	-	4	2368	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	653	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)			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						TACACGACAAGGTACTCTGTG	0.582																																						ENST00000350763.4																			0				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						c.(1957-1959)Ctt>Ttt		tenascin C							153	140	145					9																	117846662		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846662G>A		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.1957C>T	9.37:g.117846662G>A	ENSP00000265131:p.Leu653Phe					TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F	p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			4	2368	-			653			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1957C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180407	0.78677	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057231	0.64402	D	0.000001	T	0.75451	0.3851	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75357	-0.3346	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	653;653	E9PC84;P24821	.;TENA_HUMAN	F	653	ENSP00000344400:L653F;ENSP00000438152:L653F;ENSP00000344555:L653F;ENSP00000345861:L653F;ENSP00000265131:L653F;ENSP00000339553:L653F;ENSP00000411406:L653F;ENSP00000443478:L653F;ENSP00000442242:L653F	ENSP00000344400:L653F	L	-	1	0	TNC	116886483	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.286000	0.65639	2.810000	0.96702	0.655000	0.94253	CTT		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		54	279	0	0	0	1	0	54	279					A	117846662	G	A	117846662	3	1	79	1	0	0	0	0	1	0	0	0	16322	1000	35	2	4748	2	TNC	9	117846662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	117846662	23366769	10353	20670											
TNC	3371	broad.mit.edu	37	chr9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagcgaccctggccatgGcagtcatttggacaggagag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000350763.4	-	3	2019	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	536	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						CCTGGCCATGGCAGTCATTTG	0.582																																						ENST00000350763.4																			0				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						c.(1606-1608)tgC>tgA		tenascin C							82	65	71					9																	117848402		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848402G>T		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.1608C>A	9.37:g.117848402G>T	ENSP00000265131:p.Cys536*					TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*	p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	2019	-			536			EGF-like 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.1608C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	39	7.851648	0.98525	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5669	0.61824	0.0709:0.0:0.9291:0.0	.	.	.	.	X	536	.	ENSP00000344400:C536X	C	-	3	2	TNC	116888223	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.341000	0.43983	2.822000	0.97130	0.563000	0.77884	TGC		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		17	280	1	0	2.35188e-11	1	2.50879e-11	17	280					T	117848402	G	T	117848402	4	4	79	1	0	0	0	0	0	1	0	0	16322	1195	42	3	5101	3	TNC	9	117848402	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	117848402	23365029	10354	20671											
TNC	3371	broad.mit.edu	37	chr9	117848462	117848462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagccgtcctcacagacGcactgtccgtccacacagag	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000350763.4	-	3	1959	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	516	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						CCTCACAGACGCACTGTCCGT	0.612																																						ENST00000350763.4																			0				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						c.(1546-1548)tgC>tgT		tenascin C							89	78	82					9																	117848462		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848462G>A		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.1548C>T	9.37:g.117848462G>A						TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C	p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1959	-			516			EGF-like 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.1548C>T	CCDS6811.1																																																																																				0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		75	373	0	0	0	1	0	75	373					A	117848462	G	A	117848462	2	1	79	1	0	0	0	0	0	0	0	1	16322	1079	38	1		1	TNC	9	117848462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	117848462	23364969	10355	20672											
TNC	3371	broad.mit.edu	37	chr9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtcatcgcctgcaAagccatcgtggcacacacac	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000350763.4	-	3	1232	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	274	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						ATCGCCTGCAAAGCCATCGTG	0.577																																						ENST00000350763.4																			0				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						c.(820-822)tTt>tGt		tenascin C							175	127	143					9																	117849189		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849189A>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.821T>G	9.37:g.117849189A>C	ENSP00000265131:p.Phe274Cys					TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C	p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1232	-			274			EGF-like 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.821T>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549785	0.27652	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.13	3.99	0.46301	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.150285	0.64402	D	0.000009	T	0.37945	0.1022	M	0.83012	2.62	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24799	-1.0150	10	0.87932	D	0	.	10.3736	0.44068	0.9228:0.0:0.0772:0.0	.	274;274	E9PC84;P24821	.;TENA_HUMAN	C	274	ENSP00000344400:F274C;ENSP00000438152:F274C;ENSP00000344555:F274C;ENSP00000345861:F274C;ENSP00000265131:F274C;ENSP00000339553:F274C;ENSP00000411406:F274C;ENSP00000443478:F274C;ENSP00000442242:F274C	ENSP00000344400:F274C	F	-	2	0	TNC	116889010	0.991000	0.36638	0.873000	0.34254	0.049000	0.14656	3.069000	0.50026	1.075000	0.40932	0.460000	0.39030	TTT		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		81	435	0	0	0	1	0	81	435					C	117849189	A	C	117849189	3	2	79	1	0	0	0	0	1	0	0	0	16322	14	1	4	5888	4	TNC	9	117849189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	727	117849189	23364242	10356	20673											
PAPPA	5069	broad.mit.edu	37	chr9	118950319	118950319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaccacacgctgacgggCcacgacggcggggattgccg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	434	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGCTGACGGGCCACGACGGCG	0.607																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1300-1302)ggC>ggT		pregnancy-associated plasma protein A, pappalysin 1							65	52	56					9																	118950319		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950319C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1302C>T	9.37:g.118950319C>T							p.G434G	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1671	+			434			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1302C>T	CCDS6813.1																																																																																				0.607	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		36	226	0	0	0	1	0	36	226					T	118950319	C	T	118950319	2	4	79	1	0	0	0	0	0	0	0	1	11474	726	26	2		2	PAPPA	9	118950319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101130	118950319	22263112	10357	20674											
PAPPA	5069	broad.mit.edu	37	chr9	119093522	119093522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctttatatttttccaGgtgtgtcgaaccaaggtgat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TATTTTTCCAGGTGTGTCGAA	0.403																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.e11-1		pregnancy-associated plasma protein A, pappalysin 1							72	70	71					9																	119093522		2203	4300	6503	SO:0001630	splice_region_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119093522G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3148-1G>A	9.37:g.119093522G>A						PAPPA_ENST00000534838.1_Splice_Site		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			11	3516	+								B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	ENST00000328252.3	37		CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644489	0.87859	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118133343	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.079000	0.89508	2.882000	0.98803	0.655000	0.94253	.		0.403	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	Intron	51	179	0	0	0	1	0	51	179					A	119093522	G	A	119093522	5	1	79	1	0	0	0	0	0	0	1	0	11474	1014	35	2	3189	2	PAPPA	9	119093522	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143203	119093522	22119909	10358	20675											
PAPPA	5069	broad.mit.edu	37	chr9	119158837	119158837	+	Missense_Mutation	SNP	G	G	A													acaaggtgactgtgcttgtcGggacccccaggcccaagaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	ENST00000328252.3	+	22	5195	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|AL137024.1_ENST00000401363.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4825-4827)cGg>cAg		pregnancy-associated plasma protein A, pappalysin 1							176	159	164					9																	119158837		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158837G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4826G>A	9.37:g.119158837G>A	ENSP00000330658:p.Arg1609Gln					PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|PAPPA_ENST00000483254.1_3'UTR	p.R1609Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5195	+			1609					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4826G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260667	0.59431	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.04156	4.48;3.69	5.61	4.7	0.59300	.	0.117087	0.64402	D	0.000014	T	0.10465	0.0256	L	0.55990	1.75	0.42726	D	0.993692	P;D	0.65815	0.948;0.995	B;P	0.50352	0.34;0.638	T	0.02031	-1.1226	10	0.66056	D	0.02	-14.1668	12.96	0.58453	0.0:0.0:0.7077:0.2923	.	647;1609	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1609;647	ENSP00000330658:R1609Q;ENSP00000441461:R647Q	ENSP00000330658:R1609Q	R	+	2	0	PAPPA	118198658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.218000	0.42889	1.357000	0.45904	0.491000	0.48974	CGG		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		103	643	0	0	0	1	0	103	643					A	119158837	G	A	119158837	3	1	79	1	0	0	0	0	1	0	0	0	11474	1116	39	1	4912	1	PAPPA	9	119158837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65315	119158837	22054594	10359	20676	128	2									
PAPPA	5069	broad.mit.edu	37	chr9	119158838	119158838	+	Silent	SNP	G	G	A													caaggtgactgtgcttgtcgGgacccccaggcccaagaaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	ENST00000328252.3	+	22	5196	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Silent_p.R647R|AL137024.1_ENST00000401363.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTTGTCGGGACCCCCAGG	0.517																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4825-4827)cgG>cgA		pregnancy-associated plasma protein A, pappalysin 1							174	158	163					9																	119158838		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158838G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4827G>A	9.37:g.119158838G>A						PAPPA_ENST00000534838.1_Silent_p.R647R|PAPPA_ENST00000483254.1_3'UTR	p.R1609R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5196	+			1609					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.4827G>A	CCDS6813.1																																																																																				0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		98	638	0	0	0	1	0	98	638					A	119158838	G	A	119158838	2	1	79	1	0	0	0	0	0	0	0	1	11474	1219	43	2		2	PAPPA	9	119158838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	119158838	22054593	10360	20677	128	2									
TRIM32	22954	broad.mit.edu	37	chr9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaggtgaagtactagtcGctgaccgtggtaactatcgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	388					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1162-1164)Gct>Act		tripartite motif containing 32							79	80	80					9																	119461183		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461183G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1162G>A	9.37:g.119461183G>A	ENSP00000408292:p.Ala388Thr					TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	p.A388T	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1323	+			388					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1162G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076522	0.76415	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.75154	-0.91;-0.91	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81829	-0.0753	9	.	.	.	-10.9153	19.0043	0.92844	0.0:0.0:1.0:0.0	.	388	Q13049	TRI32_HUMAN	T	388	ENSP00000408292:A388T;ENSP00000363095:A388T	.	A	+	1	0	TRIM32	118501004	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	9.434000	0.97515	2.481000	0.83766	0.650000	0.86243	GCT		0.493	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		110	480	0	0	0	1	0	110	480					A	119461183	G	A	119461183	3	1	79	1	0	0	0	0	1	0	0	0	16559	1087	38	1	1164	1	TRIM32	9	119461183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302345	119461183	21752248	10361	20678											
TRIM32	22954	broad.mit.edu	37	chr9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaatccgccgcagccCcagtggcattgatagctttg	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	411					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1231-1233)cCc>cTc		tripartite motif containing 32							109	116	114					9																	119461253		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461253C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1232C>T	9.37:g.119461253C>T	ENSP00000408292:p.Pro411Leu					TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	p.P411L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1393	+			411					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1232C>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843637	0.51164	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.91295	-2.82;-2.82	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.145392	0.46442	D	0.000287	D	0.84329	0.5448	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78513	-0.2175	9	.	.	.	-12.8032	19.3288	0.94275	0.0:1.0:0.0:0.0	.	411	Q13049	TRI32_HUMAN	L	411	ENSP00000408292:P411L;ENSP00000363095:P411L	.	P	+	2	0	TRIM32	118501074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.551000	0.86045	0.650000	0.86243	CCC		0.512	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		191	735	0	0	0	1	0	191	735					T	119461253	C	T	119461253	3	4	79	1	0	0	0	0	1	0	0	0	16559	623	22	2	1234	2	TRIM32	9	119461253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	119461253	21752178	10362	20679											
ASTN2	23245	broad.mit.edu	37	chr9	119737600	119737600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgacaggaagccagagGccttggcccaagctgaaagt	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000313400.4	-	10	1876	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	592					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCCAGAGGCCTTGGCCCA	0.557																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1774-1776)ggC>ggT		astrotactin 2							67	64	65					9																	119737600		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119737600G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1776C>T	9.37:g.119737600G>A						ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.G541G	p.G592G			O75129	ASTN2_HUMAN			10	1876	-			592					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1776C>T																																																																																					0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		53	230	0	0	0	1	0	53	230					A	119737600	G	A	119737600	2	1	79	1	0	0	0	0	0	0	0	1	1066	1190	42	2		2	ASTN2	9	119737600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276347	119737600	21475831	10363	20680											
ASTN2	23245	broad.mit.edu	37	chr9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttcacagtgagtggaCaagacatctggctgccacac	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000313400.4	-	6	1470	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	457					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGAGTGGACAAGACATCTG	0.537																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1369-1371)tGt>tAt		astrotactin 2							113	90	97					9																	119802151		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119802151C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1370G>A	9.37:g.119802151C>T	ENSP00000314038:p.Cys457Tyr					ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y	p.C457Y			O75129	ASTN2_HUMAN			6	1470	-			457					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1370G>A		.	.	.	.	.	.	.	.	.	.	C	19.68	3.873619	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.45;2.45;2.31;2.49	5.92	5.92	0.95590	.	0.113047	0.64402	D	0.000008	T	0.33876	0.0878	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.00731	-1.1590	9	.	.	.	-13.2905	20.3138	0.98647	0.0:1.0:0.0:0.0	.	406;457;457	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	457;457;184;406	ENSP00000314038:C457Y;ENSP00000363108:C457Y;ENSP00000363098:C184Y;ENSP00000354504:C406Y	.	C	-	2	0	ASTN2	118841972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.459000	0.80802	2.814000	0.96858	0.585000	0.79938	TGT		0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		26	117	0	0	0	1	0	26	117					T	119802151	C	T	119802151	3	4	79	1	0	0	0	0	1	0	0	0	1066	478	17	2	2953	2	ASTN2	9	119802151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64551	119802151	21411280	10364	20681											
TLR4	7099	broad.mit.edu	37	chr9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtccatcgtttggTtctgggagaatttagaaatg	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000394487.4_Missense_Mutation_p.V219A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	259					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CATCGTTTGGTTCTGGGAGAA	0.353																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(775-777)gTt>gCt		toll-like receptor 4							76	84	81					9																	120475182		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475182T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.776T>C	9.37:g.120475182T>C	ENSP00000363089:p.Val259Ala					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V219A	p.V259A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	877	+			259					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.776T>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965554	0.34659	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.47;1.21	5.57	5.57	0.84162	.	0.285150	0.30285	N	0.009963	T	0.40145	0.1105	M	0.72118	2.19	0.09310	N	1	B	0.32893	0.389	B	0.31390	0.129	T	0.46428	-0.9192	10	0.72032	D	0.01	.	14.2982	0.66329	0.0:0.0:0.0:1.0	.	259	O00206	TLR4_HUMAN	A	219;259	ENSP00000377997:V219A;ENSP00000363089:V259A	ENSP00000363089:V259A	V	+	2	0	TLR4	119515003	0.999000	0.42202	0.527000	0.27925	0.514000	0.34195	4.087000	0.57671	2.120000	0.65058	0.533000	0.62120	GTT		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		19	628	0	0	0	1	0	19	628					C	120475182	T	C	120475182	3	2	79	1	0	0	0	0	1	0	0	0	16005	1725	60	4	786	4	TLR4	9	120475182	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	673031	120475182	20738249	10365	20682											
DBC1	1620	broad.mit.edu	37	chr9	121929970	121929970	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgacatagacaaagaAcatggggtccaggctgctgt	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121929970A>T	ENST00000265922.3	-	8	2139	c.1678T>A	c.(1678-1680)Ttc>Atc	p.F560I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	560					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TAGACAAAGAACATGGGGTCC	0.557																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1678-1680)Ttc>Atc									42	41	42					9																	121929970		2203	4299	6502	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929970A>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1678T>A	9.37:g.121929970A>T	ENSP00000265922:p.Phe560Ile					DBC1_ENST00000482797.1_Intron	p.F560I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2139	-			560					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1678T>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977209	0.53720	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.12984	2.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.40543	1.245	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.02184	-1.1199	10	0.19147	T	0.46	-23.7966	15.8802	0.79197	1.0:0.0:0.0:0.0	.	560	O60477	DBC1_HUMAN	I	560	ENSP00000265922:F560I	ENSP00000265922:F560I	F	-	1	0	DBC1	120969791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.199000	0.65152	2.145000	0.66743	0.533000	0.62120	TTC		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		17	257	0	0	0	1	0	17	257					T	121929970	A	T	121929970	3	4	79	1	0	0	0	0	1	0	0	0	4258	43	2	5	611	5	DBC1	9	121929970	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1454788	121929970	19283461	10366	20683											
DBC1	1620	broad.mit.edu	37	chr9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaagaaggtgtcgaggCggatctcgttgctgatgaag	16	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	511					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTGTCGAGGCGGATCTCGTT	0.562																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1531-1533)cGc>cAc									248	176	201					9																	121930116		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930116C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1532G>A	9.37:g.121930116C>T	ENSP00000265922:p.Arg511His					DBC1_ENST00000482797.1_Intron	p.R511H	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1993	-			511					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1532G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637290	0.87760	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20881	2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.33675	-0.9859	10	0.72032	D	0.01	-21.531	19.91	0.97023	0.0:1.0:0.0:0.0	.	511	O60477	DBC1_HUMAN	H	511	ENSP00000265922:R511H	ENSP00000265922:R511H	R	-	2	0	DBC1	120969937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.019000	0.70818	2.702000	0.92279	0.655000	0.94253	CGC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		12	285	0	0	0	1	0	12	285					T	121930116	C	T	121930116	3	4	79	1	0	0	0	0	1	0	0	0	4258	768	27	1	757	1	DBC1	9	121930116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	121930116	19283315	10367	20684											
DBC1	1620	broad.mit.edu	37	chr9	122004453	122004453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcattccctgacttcctgtCgaggcgacttttgtccatat	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:122004453C>T	ENST00000265922.3	-	4	912	c.451G>A	c.(451-453)Gac>Aac	p.D151N	BRINP1_ENST00000373964.2_Missense_Mutation_p.D151N	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	151	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GACTTCCTGTCGAGGCGACTT	0.488																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(451-453)Gac>Aac									136	109	119					9																	122004453		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004453C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.451G>A	9.37:g.122004453C>T	ENSP00000265922:p.Asp151Asn					DBC1_ENST00000373964.2_Missense_Mutation_p.D151N	p.D151N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			4	912	-			151			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.451G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445295	0.83993	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83755	-1.76;-1.76	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	N	0.08118	0	0.80722	D	1	P;P	0.46327	0.876;0.826	B;B	0.34242	0.178;0.151	T	0.72915	-0.4147	10	0.41790	T	0.15	-31.013	20.0666	0.97706	0.0:1.0:0.0:0.0	.	151;151	O60477-2;O60477	.;DBC1_HUMAN	N	151	ENSP00000265922:D151N;ENSP00000363075:D151N	ENSP00000265922:D151N	D	-	1	0	DBC1	121044274	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	4.881000	0.63114	2.826000	0.97356	0.561000	0.74099	GAC		0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		22	201	0	0	0	1	0	22	201					T	122004453	C	T	122004453	3	4	79	1	0	0	0	0	1	0	0	0	4258	884	31	1	1854	1	DBC1	9	122004453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74337	122004453	19208978	10368	20685											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgtcctggtaggctgCtcccacagggggctgagcta	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000359309.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1015	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGTAGGCTGCTCCCACAGGG	0.453																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(3043-3045)Gca>Aca		CDK5 regulatory subunit associated protein 2							124	113	117					9																	123206003		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123206003C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3043G>A	9.37:g.123206003C>T	ENSP00000343818:p.Ala1015Thr					CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T	p.A1015T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			23	3222	-			1015			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.3043G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344123	0.05208	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19669	3.8;3.81;3.71;2.13	4.71	-4.33	0.03677	.	1.501350	0.03992	N	0.295015	T	0.10165	0.0249	N	0.11560	0.145	0.25863	N	0.983799	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.003	T	0.27365	-1.0076	10	0.33141	T	0.24	.	5.7024	0.17889	0.0:0.2131:0.4026:0.3843	.	784;983;1015;1015;409	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	T	983;1015;1015;409;787	ENSP00000354065:A983T;ENSP00000343818:A1015T;ENSP00000353317:A1015T;ENSP00000400395:A409T	ENSP00000341695:A787T	A	-	1	0	CDK5RAP2	122245824	0.212000	0.23540	0.113000	0.21522	0.317000	0.28152	-0.748000	0.04818	-0.899000	0.03901	-0.371000	0.07208	GCA		0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		74	415	0	0	0	1	0	74	415					T	123206003	C	T	123206003	3	4	79	1	0	0	0	0	1	0	0	0	3155	797	28	2	2702	2	CDK5RAP2	9	123206003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1201550	123206003	18007428	10369	20686											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcttgattgtgcaatTttttattgctttcactcaga	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	471					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTGTGCAATTTTTTATTGCT	0.323																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1411-1413)aAa>aCa		CDK5 regulatory subunit associated protein 2							203	180	187					9																	123253655		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253655T>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1412A>C	9.37:g.123253655T>G	ENSP00000343818:p.Lys471Thr					CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T	p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1591	-			471					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1412A>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270117	0.23221	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.59	0.56863	.	0.397699	0.24240	N	0.040267	T	0.53706	0.1813	M	0.64997	1.995	0.09310	N	0.999992	D;D;P;D	0.56746	0.977;0.977;0.837;0.961	P;P;B;P	0.53593	0.73;0.656;0.373;0.541	T	0.45963	-0.9225	10	0.22109	T	0.4	.	10.8935	0.47008	0.1401:0.0:0.0:0.8599	.	272;471;471;471	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	471;471;471;471;473	ENSP00000354065:K471T;ENSP00000352258:K471T;ENSP00000343818:K471T;ENSP00000353317:K471T	ENSP00000341695:K473T	K	-	2	0	CDK5RAP2	122293476	0.842000	0.29525	0.005000	0.12908	0.050000	0.14768	3.341000	0.52151	0.965000	0.38133	0.528000	0.53228	AAA		0.323	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		53	192	0	0	0	1	0	53	192					G	123253655	T	G	123253655	3	3	79	1	0	0	0	0	1	0	0	0	3155	1841	64	4	4373	4	CDK5RAP2	9	123253655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47652	123253655	17959776	10370	20687											
MEGF9	1955	broad.mit.edu	37	chr9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatcgcaactggcagaccGattattgcattggcagggca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(916-918)Cgg>Tgg		multiple EGF-like-domains 9							98	99	99					9																	123384921		1977	4168	6145	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123384921G>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.916C>T	9.37:g.123384921G>A	ENSP00000363040:p.Arg306Trp					MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	p.R306W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			3	1027	-			306			Laminin EGF-like 3.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.916C>T	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004313	0.93287	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.99	5.99	0.97316	.	0.135560	0.49916	D	0.000131	T	0.79161	0.4399	M	0.71871	2.18	0.45634	D	0.998565	D	0.89917	1.0	D	0.74348	0.983	T	0.78947	-0.2003	10	0.59425	D	0.04	-3.4395	18.6582	0.91462	0.0:0.0:1.0:0.0	.	343	C9J1K8	.	W	306;343	ENSP00000363040:R306W;ENSP00000392666:R343W	ENSP00000363040:R306W	R	-	1	2	MEGF9	122424742	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.816000	0.62642	2.840000	0.97914	0.655000	0.94253	CGG		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		30	170	0	0	0	1	0	30	170					A	123384921	G	A	123384921	3	1	79	1	0	0	0	0	1	0	0	0	9505	1057	37	1	908	1	MEGF9	9	123384921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131266	123384921	17828510	10371	20688											
FBXW2	26190	broad.mit.edu	37	chr9	123538497	123538497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcattgtagtccacGctaaatactagtgcatataa	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000340778.5_Silent_p.S166S|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	231					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(691-693)agC>agT		F-box and WD repeat domain containing 2							103	103	103					9																	123538497		2031	4194	6225	SO:0001819	synonymous_variant	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123538497G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.693C>T	9.37:g.123538497G>A						FBXW2_ENST00000340778.5_Silent_p.S166S|FBXW2_ENST00000493559.1_5'UTR	p.S231S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			5	880	-			231					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	37	c.693C>T	CCDS43872.1																																																																																				0.378	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			35	416	0	0	0	1	0	35	416					A	123538497	G	A	123538497	2	1	79	1	0	0	0	0	0	0	0	1	5791	1078	38	1		1	FBXW2	9	123538497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153576	123538497	17674934	10372	20689											
C5	727	broad.mit.edu	37	chr9	123751958	123751958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagaatactgggacaacGctcatcagctccgcctctgc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1014					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTGGGACAACGCTCATCAGCT	0.433																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3040-3042)agC>agT		complement component 5	Eculizumab(DB01257)						79	76	77					9																	123751958		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123751958G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3042C>T	9.37:g.123751958G>A							p.S1014S	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	24	3071	-			1014					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.3042C>T	CCDS6826.1																																																																																				0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		54	194	0	0	0	1	0	54	194					A	123751958	G	A	123751958	2	1	79	1	0	0	0	0	0	0	0	1	2287	1078	38	1		1	C5	9	123751958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213461	123751958	17461473	10373	20690											
C5	727	broad.mit.edu	37	chr9	123753544	123753544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatgggaactcctttcGtctgctaatggtacctgtaa	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123753544G>A	ENST00000223642.1	-	23	2895	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	956					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACTCCTTTCGTCTGCTAATG	0.333																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2866-2868)Cga>Tga		complement component 5	Eculizumab(DB01257)						121	122	122					9																	123753544		2203	4300	6503	SO:0001587	stop_gained	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123753544G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2866C>T	9.37:g.123753544G>A	ENSP00000223642:p.Arg956*						p.R956*	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	23	2895	-			956					Q14CJ0|Q27I61	Nonsense_Mutation	SNP	ENST00000223642.1	37	c.2866C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235985	0.98719	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.7	2.66	0.31614	.	3.841640	0.00748	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6768	0.56899	0.0:0.0:0.5713:0.4287	.	.	.	.	X	956;1027	.	ENSP00000223642:R956X	R	-	1	2	C5	122793365	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.609000	0.36858	0.705000	0.31890	0.655000	0.94253	CGA		0.333	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		20	485	0	0	0	1	0	20	485					A	123753544	G	A	123753544	4	1	79	1	0	0	0	0	0	1	0	0	2287	1153	40	1	2240	1	C5	9	123753544	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	123753544	17459887	10374	20691											
CEP110	11064	broad.mit.edu	37	chr9	123852648	123852648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgataaaatctctgaacCtttcactttctaaagacggt	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123852648C>A	ENST00000373855.1	+	4	573	c.313C>A	c.(313-315)Ctt>Att	p.L105I	CNTRL_ENST00000238341.5_Missense_Mutation_p.L105I|CNTRL_ENST00000373865.2_Missense_Mutation_p.L105I			Q7Z7A1	CNTRL_HUMAN	centriolin	105					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTCTGAACCTTTCACTTTC	0.348																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(313-315)Ctt>Att		centriolin							84	89	87					9																	123852648		2203	4299	6502	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123852648C>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.313C>A	9.37:g.123852648C>A	ENSP00000362962:p.Leu105Ile					CNTRL_ENST00000373865.2_Missense_Mutation_p.L105I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L105I	p.L105I			Q7Z7A1	CNTRL_HUMAN			4	573	+			105					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.313C>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774407	0.70107	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.34072	1.38;1.38	4.69	4.69	0.59074	.	.	.	.	.	T	0.61009	0.2313	M	0.76574	2.34	0.39025	D	0.959823	D	0.69078	0.997	D	0.78314	0.991	T	0.68119	-0.5493	9	0.66056	D	0.02	.	16.9587	0.86266	0.0:1.0:0.0:0.0	.	105	Q7Z7A1	CNTRL_HUMAN	I	105	ENSP00000362962:L105I;ENSP00000238341:L105I	ENSP00000238341:L105I	L	+	1	0	CNTRL	122892469	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	5.832000	0.69337	2.313000	0.78055	0.585000	0.79938	CTT		0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		31	344	1	0	2.61193e-14	1	2.83483e-14	31	344					A	123852648	C	A	123852648	3	1	79	1	0	0	0	0	1	0	0	0	3254	681	24	3	319	3	CEP110	9	123852648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99104	123852648	17360783	10375	20692											
CEP110	11064	broad.mit.edu	37	chr9	123898163	123898163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagacccagggagatctcaGtgcctatgaagctgagctag	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123898163G>T	ENST00000373855.1	+	15	2365	c.2105G>T	c.(2104-2106)aGt>aTt	p.S702I	CNTRL_ENST00000238341.5_Missense_Mutation_p.S702I|CNTRL_ENST00000373850.1_Missense_Mutation_p.S150I|CNTRL_ENST00000373847.1_Missense_Mutation_p.S150I			Q7Z7A1	CNTRL_HUMAN	centriolin	702					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGATCTCAGTGCCTATGAA	0.493																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2104-2106)aGt>aTt		centriolin							84	74	77					9																	123898163		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123898163G>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2105G>T	9.37:g.123898163G>T	ENSP00000362962:p.Ser702Ile					CNTRL_ENST00000373847.1_Missense_Mutation_p.S150I|CNTRL_ENST00000238341.5_Missense_Mutation_p.S702I|CNTRL_ENST00000373850.1_Missense_Mutation_p.S150I	p.S702I			Q7Z7A1	CNTRL_HUMAN			15	2365	+			702					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2105G>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885778	0.72410	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.78	3.94	0.45596	.	.	.	.	.	T	0.50667	0.1629	L	0.34521	1.04	0.38654	D	0.951908	P;P;P	0.49783	0.883;0.928;0.883	P;P;P	0.51135	0.459;0.66;0.459	T	0.55854	-0.8075	9	0.72032	D	0.01	.	11.0477	0.47867	0.0695:0.1291:0.8014:0.0	.	702;702;702	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	I	702;702;702;184;150;150	ENSP00000362962:S702I;ENSP00000238341:S702I;ENSP00000362956:S150I;ENSP00000362953:S150I	ENSP00000238341:S702I	S	+	2	0	CNTRL	122937984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.420000	0.59841	0.785000	0.33685	0.655000	0.94253	AGT		0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		41	237	1	0	6.1207e-33	1	7.24336e-33	41	237					T	123898163	G	T	123898163	3	4	79	1	0	0	0	0	1	0	0	0	3254	1029	36	3	2155	3	CEP110	9	123898163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45515	123898163	17315268	10376	20693											
CEP110	11064	broad.mit.edu	37	chr9	123904467	123904467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtatggaggaaatccaAggccttacagatctccaact	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123904467A>C	ENST00000373855.1	+	19	3050	c.2790A>C	c.(2788-2790)caA>caC	p.Q930H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q930H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q378H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Q378H			Q7Z7A1	CNTRL_HUMAN	centriolin	930					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGAAATCCAAGGCCTTACAG	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2788-2790)caA>caC		centriolin							52	51	52					9																	123904467		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123904467A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2790A>C	9.37:g.123904467A>C	ENSP00000362962:p.Gln930His					CNTRL_ENST00000373847.1_Missense_Mutation_p.Q378H|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q930H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q378H	p.Q930H			Q7Z7A1	CNTRL_HUMAN			19	3050	+			930					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2790A>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787258	0.70337	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.61	4.49	0.54785	.	.	.	.	.	T	0.22589	0.0545	L	0.32530	0.975	0.34162	D	0.66879	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.17198	-1.0377	9	0.42905	T	0.14	.	7.5375	0.27719	0.852:0.0:0.148:0.0	.	930;930	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	930;930;930;412;378;378	ENSP00000362962:Q930H;ENSP00000238341:Q930H;ENSP00000362956:Q378H;ENSP00000362953:Q378H	ENSP00000238341:Q930H	Q	+	3	2	CNTRL	122944288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.549000	0.53681	2.140000	0.66376	0.533000	0.62120	CAA		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		26	112	0	0	0	1	0	26	112					C	123904467	A	C	123904467	3	2	79	1	0	0	0	0	1	0	0	0	3254	69	3	4	2856	4	CEP110	9	123904467	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6304	123904467	17308964	10377	20694											
CEP110	11064	broad.mit.edu	37	chr9	123906201	123906201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacttgaagatgccaaAtctcaggagcaagtttttgg	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123906201A>C	ENST00000373855.1	+	20	3152	c.2892A>C	c.(2890-2892)aaA>aaC	p.K964N	CNTRL_ENST00000238341.5_Missense_Mutation_p.K964N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K412N|CNTRL_ENST00000373847.1_Missense_Mutation_p.K412N			Q7Z7A1	CNTRL_HUMAN	centriolin	964					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGATGCCAAATCTCAGGAGC	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2890-2892)aaA>aaC		centriolin							31	34	33					9																	123906201		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123906201A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2892A>C	9.37:g.123906201A>C	ENSP00000362962:p.Lys964Asn					CNTRL_ENST00000373847.1_Missense_Mutation_p.K412N|CNTRL_ENST00000238341.5_Missense_Mutation_p.K964N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K412N	p.K964N			Q7Z7A1	CNTRL_HUMAN			20	3152	+			964					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2892A>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990236	0.54041	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.30714	1.52;1.52;1.52;2.53	5.96	-0.306	0.12780	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.22851	N	0.998659	P;B	0.35272	0.493;0.361	B;B	0.35607	0.206;0.102	T	0.20672	-1.0268	9	0.46703	T	0.11	.	9.4871	0.38937	0.4888:0.0:0.5112:0.0	.	964;964	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	N	964;964;964;446;412;412	ENSP00000362962:K964N;ENSP00000238341:K964N;ENSP00000362956:K412N;ENSP00000362953:K412N	ENSP00000238341:K964N	K	+	3	2	CNTRL	122946022	0.997000	0.39634	0.994000	0.49952	0.998000	0.95712	1.085000	0.30840	0.140000	0.18849	0.533000	0.62120	AAA		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		33	232	0	0	0	1	0	33	232					C	123906201	A	C	123906201	3	2	79	1	0	0	0	0	1	0	0	0	3254	98	4	4	2962	4	CEP110	9	123906201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1734	123906201	17307230	10378	20695											
GSN	2934	broad.mit.edu	37	chr9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctccactgccatggccGcccagcacggcatggatgac	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373818.4	+	9	1372	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000373823.3_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	435	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(1150-1152)Gcc>Acc		gelsolin							69	60	63					9																	124081117		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124081117G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1303G>A	9.37:g.124081117G>A	ENSP00000362924:p.Ala435Thr					GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000373818.4_Missense_Mutation_p.A435T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T	p.A384T			P06396	GELS_HUMAN			17	2055	+			435					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.1150G>A	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501356	0.96371	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;0.963;1.0;0.997	P;P;B;D;P	0.81914	0.587;0.783;0.246;0.995;0.706	T	0.55573	-0.8120	10	0.54805	T	0.06	-29.0535	18.9865	0.92773	0.0:0.0:1.0:0.0	.	408;392;395;166;435	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	T	384;395;395;384;384;384;384;368;358;392;435;166	ENSP00000362929:A384T;ENSP00000411293:A395T;ENSP00000377882:A395T;ENSP00000409358:A384T;ENSP00000416586:A384T;ENSP00000340888:A384T;ENSP00000362914:A384T;ENSP00000445823:A392T;ENSP00000362924:A435T;ENSP00000362913:A166T	ENSP00000340888:A384T	A	+	1	0	GSN	123120938	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	9.301000	0.96167	2.724000	0.93272	0.561000	0.74099	GCC		0.637	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		98	363	0	0	0	1	0	98	363					A	124081117	G	A	124081117	3	1	79	1	0	0	0	0	1	0	0	0	6855	1087	38	1	1365	1	GSN	9	124081117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174916	124081117	17132314	10379	20696											
GSN	2934	broad.mit.edu	37	chr9	124091191	124091191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctgggaggccctgggCgggaaggctgcctaccgcac	17	13	1	0	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373818.4	+	14	2007	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000373823.3_Silent_p.G595G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000545652.1_Silent_p.G603G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	646	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGCCCTGGGCGGGAAGGCTG	0.622																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(1783-1785)ggC>ggT		gelsolin		C	,,,,,,,	0,4406		0,0,2203	63	58	60		1938,1785,1785,1785,1785,1818,1818,1785	-0.3	1	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,	646/783,595/732,595/732,595/732,595/732,606/743,606/743,595/732	124091191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124091191C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1938C>T	9.37:g.124091191C>T						GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000373818.4_Silent_p.G646G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000545652.1_Silent_p.G603G	p.G595G			P06396	GELS_HUMAN			22	2690	+			646			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.1785C>T	CCDS6828.1																																																																																				0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		14	232	0	0	0	1	0	14	232					T	124091191	C	T	124091191	2	4	79	1	0	0	0	0	0	0	0	1	6855	755	27	1		1	GSN	9	124091191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10074	124091191	17122240	10380	20697											
STOM	2040	broad.mit.edu	37	chr9	124111572	124111572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatagaccacaccatccacGctaattgtcactgaatcctt	4	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	117					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418																																						ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(349-351)agC>agT		stomatin							159	136	144					9																	124111572		2203	4300	6503	SO:0001819	synonymous_variant	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124111572G>A		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"erythrocyte membrane protein band 7.2 (stomatin)"	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.351C>T	9.37:g.124111572G>A						STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	p.S117S	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	5	368	-			117					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Silent	SNP	ENST00000286713.2	37	c.351C>T	CCDS6830.1																																																																																				0.418	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		43	234	0	0	0	1	0	43	234					A	124111572	G	A	124111572	2	1	79	1	0	0	0	0	0	0	0	1	15364	1078	38	1		1	STOM	9	124111572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20381	124111572	17101859	10381	20698											
DAB2IP	153090	broad.mit.edu	37	chr9	124522508	124522508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgcccaaccccaagggCggcaagggccctggacccat	13	16	0	1	rs570908203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	320					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(958-960)ggC>ggT		DAB2 interacting protein							74	60	65					9																	124522508		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522508C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.960C>T	9.37:g.124522508C>T						DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G	p.G320G			Q5VWQ8	DAB2P_HUMAN			6	1142	+			320					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.960C>T																																																																																					0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		38	212	0	0	0	1	0	38	212					T	124522508	C	T	124522508	2	4	79	1	0	0	0	0	0	0	0	1	4230	755	27	1		1	DAB2IP	9	124522508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410936	124522508	16690923	10382	20699											
TTLL11	158135	broad.mit.edu	37	chr9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagggtccctgccaggCggatgtcactggggtcttta	15	10	3	0	rs375201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000373776.3	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.0					ENST00000321582.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1075-1077)cGc>cAc		tubulin tyrosine ligase-like family, member 11		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	101	99		1076,1076	5.1	1	9		99	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TTLL11	NM_001139442.1,NM_194252.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	359/801,359/539	124751937	3,13003	2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751937C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1076G>A	9.37:g.124751937C>T	ENSP00000362881:p.Arg359His					TTLL11_ENST00000373776.3_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	p.R359H	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1263	-			359			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1076G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037292	0.75617	2.27E-4	2.33E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05513	3.43;3.43	5.12	5.12	0.69794	.	0.073650	0.50627	D	0.000112	T	0.11495	0.0280	L	0.51422	1.61	0.53688	D	0.999979	P;P	0.49090	0.868;0.919	B;P	0.45681	0.294;0.49	T	0.01743	-1.1283	10	0.51188	T	0.08	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	359	ENSP00000321346:R359H;ENSP00000362881:R359H	ENSP00000321346:R359H	R	-	2	0	TTLL11	123791758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.584000	0.60971	2.391000	0.81399	0.555000	0.69702	CGC		0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		112	543	0	0	0	1	0	112	543					T	124751937	C	T	124751937	3	4	79	1	0	0	0	0	1	0	0	0	16778	768	27	1	1428	1	TTLL11	9	124751937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229429	124751937	16461494	10383	20700											
NDUFA8	4702	broad.mit.edu	37	chr9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccatagtgatgggccGcagctttaagcacagcagaa	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000373768.3	-	2	224	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	28					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						GTGATGGGCCGCAGCTTTAAG	0.478																																						ENST00000537618.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(82-84)gCg>gTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	NADH(DB00157)						60	52	55					9																	124914656		2203	4300	6503	SO:0001583	missense	4702				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:124914656G>A	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"Mitochondrial respiratory chain complex / Complex I"	7692	protein-coding gene	gene with protein product	"complex I PGIV subunit"	603359	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.83C>T	9.37:g.124914656G>A	ENSP00000362873:p.Ala28Val					NDUFA8_ENST00000373768.3_Missense_Mutation_p.A28V	p.A28V			P51970	NDUA8_HUMAN			2	192	-			28					B1AM93|Q9Y6N0	Missense_Mutation	SNP	ENST00000373768.3	37	c.83C>T	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428595	0.83667	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.84730	-1.19;-1.89	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.91538	0.5247	10	0.51188	T	0.08	-19.6724	15.7391	0.77870	0.0:0.0:1.0:0.0	.	28	P51970	NDUA8_HUMAN	V	28	ENSP00000442247:A28V;ENSP00000362873:A28V	ENSP00000362873:A28V	A	-	2	0	NDUFA8	123954477	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	8.846000	0.92159	2.310000	0.77875	0.643000	0.83706	GCG		0.478	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222		38	162	0	0	0	1	0	38	162					A	124914656	G	A	124914656	3	1	79	1	0	0	0	0	1	0	0	0	10313	1087	38	1	447	1	NDUFA8	9	124914656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162719	124914656	16298775	10384	20701											
LHX6	26468	broad.mit.edu	37	chr9	124979498	124979498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtggtaggcgttgccGcgagctctccgcacccagtc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000373755.2	-	4	552	c.444C>T	c.(442-444)cgC>cgT	p.R148R	LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000394319.4_Silent_p.R177R|LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000340587.3_Silent_p.R177R	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|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)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667																																						ENST00000394319.4																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(529-531)cgC>cgT		LIM homeobox 6							59	56	57					9																	124979498		2203	4300	6503	SO:0001819	synonymous_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124979498G>A	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.444C>T	9.37:g.124979498G>A						LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000373754.2_Silent_p.R148R	p.R177R	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN			5	635	-			148			LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.531C>T	CCDS56583.1																																																																																				0.667	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		69	321	0	0	0	1	0	69	321					A	124979498	G	A	124979498	2	1	79	1	0	0	0	0	0	0	0	1	8807	1074	38	1		1	LHX6	9	124979498	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64842	124979498	16233933	10385	20702											
PTGS1	5742	broad.mit.edu	37	chr9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttccaataccgcaaccGcattgccatggagttcaacc	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	375					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCGCAACCGCATTGCCATG	0.537																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1123-1125)cGc>cAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						220	207	211					9																	125148839		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148839G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1124G>A	9.37:g.125148839G>A	ENSP00000354612:p.Arg375His					PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|AL162424.1_ENST00000600713.1_Intron	p.R375H	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			9	1129	+			375					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1124G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361091	0.82353	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.36	3.45	0.39498	.	0.048924	0.85682	D	0.000000	T	0.77818	0.4187	M	0.92555	3.32	0.80722	D	1	P;P;P	0.50710	0.772;0.938;0.855	P;P;P	0.49683	0.458;0.619;0.505	T	0.82285	-0.0533	10	0.87932	D	0	-22.6171	10.3217	0.43769	0.0749:0.1341:0.7911:0.0	.	350;375;375	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	350;375;375;266	ENSP00000437709:R350H;ENSP00000354612:R375H;ENSP00000223423:R375H;ENSP00000362802:R266H	ENSP00000223423:R375H	R	+	2	0	PTGS1	124188660	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.708000	0.84633	1.217000	0.43442	0.563000	0.77884	CGC		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			39	984	0	0	0	1	0	39	984					A	125148839	G	A	125148839	3	1	79	1	0	0	0	0	1	0	0	0	12803	1087	38	1	1158	1	PTGS1	9	125148839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169341	125148839	16064592	10386	20703											
OR1J2	26740	broad.mit.edu	37	chr9	125273896	125273896	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttctattgacaaggatgtCattgtggctctcatgtacac	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(814-816)gtC>gtA		olfactory receptor, family 1, subfamily J, member 2							195	175	182					9																	125273896		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273896C>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.816C>A	9.37:g.125273896C>A							p.V272V	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	816	+			272					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.816C>A	CCDS35121.1																																																																																				0.478	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			110	639	1	0	1.39691e-52	1	1.73782e-52	110	639					A	125273896	C	A	125273896	2	1	79	1	0	0	0	0	0	0	0	1	11002	813	29	3		3	OR1J2	9	125273896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125057	125273896	15939535	10387	20704											
OR1N2	138882	broad.mit.edu	37	chr9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggttctgctcttctatgGgtctcttatgggtgtgtatt	13	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(808-810)gGg>gAg		olfactory receptor, family 1, subfamily N, member 2							227	230	229					9																	125316257		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316257G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.809G>A	9.37:g.125316257G>A	ENSP00000362792:p.Gly270Glu						p.G270E	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	867	+			270					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.809G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511782	0.44660	.	.	ENSG00000171501	ENST00000373688	T	0.39056	1.1	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.73321	0.3572	H	0.96489	3.83	0.09310	N	1	D	0.61697	0.99	D	0.74348	0.983	T	0.70543	-0.4843	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	E	270	ENSP00000362792:G270E	ENSP00000362792:G270E	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG		0.473	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			118	496	0	0	0	1	0	118	496					A	125316257	G	A	125316257	3	1	79	1	0	0	0	0	1	0	0	0	11012	1232	43	2	811	2	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42361	125316257	15897174	10388	20705											
OR1L8	138881	broad.mit.edu	37	chr9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagataaaaggattgaGcatggatgacaaaactgtgt	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(853-855)Ctc>Atc		olfactory receptor, family 1, subfamily L, member 8							102	101	101					9																	125329904		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125329904G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.853C>A	9.37:g.125329904G>T	ENSP00000306607:p.Leu285Ile						p.L285I	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	934	-			285					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.853C>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326989	0.60743	.	.	ENSG00000171496	ENST00000304865	T	0.44083	0.93	4.64	0.718	0.18202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002482	T	0.60689	0.2288	M	0.87456	2.885	0.26209	N	0.979325	D	0.69078	0.997	P	0.62491	0.903	T	0.55166	-0.8183	10	0.87932	D	0	-11.3452	9.2539	0.37571	0.3358:0.0:0.6642:0.0	.	285	Q8NGR8	OR1L8_HUMAN	I	285	ENSP00000306607:L285I	ENSP00000306607:L285I	L	-	1	0	OR1L8	124369725	0.000000	0.05858	0.905000	0.35620	0.963000	0.63663	-0.518000	0.06267	0.304000	0.22809	0.449000	0.29647	CTC		0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			91	495	1	0	4.05997e-52	1	5.04755e-52	91	495					T	125329904	G	T	125329904	3	4	79	1	0	0	0	0	1	0	0	0	11009	971	34	3	80	3	OR1L8	9	125329904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13647	125329904	15883527	10389	20706											
OR1Q1	158131	broad.mit.edu	37	chr9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcccactcttccttgTtttctcactcatgtacgcaa	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	30					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478																																						ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(88-90)gTt>gGt		olfactory receptor, family 1, subfamily Q, member 1							226	205	212					9																	125377105		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377105T>G		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.89T>G	9.37:g.125377105T>G	ENSP00000297913:p.Val30Gly					RP11-64P14.7_ENST00000431442.1_RNA	p.V30G	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	158	+			30					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.89T>G	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765450	0.31228	.	.	ENSG00000165202	ENST00000297913	T	0.03152	4.03	5.43	5.43	0.79202	.	0.158012	0.30011	N	0.010629	T	0.04679	0.0127	L	0.31420	0.93	0.48830	D	0.99971	B	0.23735	0.09	B	0.26416	0.069	T	0.41342	-0.9514	10	0.87932	D	0	-2.0674	14.609	0.68501	0.0:0.0:0.0:1.0	.	30	Q15612	OR1Q1_HUMAN	G	30	ENSP00000297913:V30G	ENSP00000297913:V30G	V	+	2	0	OR1Q1	124416926	0.419000	0.25449	0.054000	0.19295	0.354000	0.29330	4.135000	0.57997	2.280000	0.76307	0.533000	0.62120	GTT		0.478	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			133	672	0	0	0	1	0	133	672					G	125377105	T	G	125377105	3	3	79	1	0	0	0	0	1	0	0	0	11013	1725	60	4	91	4	OR1Q1	9	125377105	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47201	125377105	15836326	10390	20707											
OR1L4	254973	broad.mit.edu	37	chr9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcatcctcctgggccTctcttccaaccctaagctgc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(52-54)cTc>cAc		olfactory receptor, family 1, subfamily L, member 4							212	200	204					9																	125486321		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486321T>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.53T>A	9.37:g.125486321T>A	ENSP00000259466:p.Leu18His						p.L18H	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	53	+			18					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.53T>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.644701	0.47258	.	.	ENSG00000136939	ENST00000259466	T	0.00342	8.03	3.94	3.94	0.45596	.	0.542857	0.15309	N	0.269196	T	0.00784	0.0026	M	0.92412	3.305	0.35383	D	0.79007	D	0.57571	0.98	P	0.53912	0.737	T	0.53279	-0.8461	10	0.87932	D	0	-9.9891	11.9185	0.52779	0.0:0.0:0.0:1.0	.	18	Q8NGR5	OR1L4_HUMAN	H	18	ENSP00000259466:L18H	ENSP00000259466:L18H	L	+	2	0	OR1L4	124526142	0.229000	0.23729	1.000000	0.80357	0.428000	0.31595	3.485000	0.53208	1.646000	0.50622	0.254000	0.18369	CTC		0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			153	658	0	0	0	1	0	153	658					A	125486321	T	A	125486321	3	1	79	1	0	0	0	0	1	0	0	0	11007	1551	54	5	55	5	OR1L4	9	125486321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109216	125486321	15727110	10391	20708											
OR1L4	254973	broad.mit.edu	37	chr9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgaaaccatggcatTgcctactcatgctattgggt	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(424-426)Tgc>Cgc		olfactory receptor, family 1, subfamily L, member 4							247	195	213					9																	125486692		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486692T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.424T>C	9.37:g.125486692T>C	ENSP00000259466:p.Cys142Arg						p.C142R	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	424	+			142					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.424T>C	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487723	0.04352	.	.	ENSG00000136939	ENST00000259466	T	0.00241	8.46	4.01	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.201999	0.35495	N	0.003172	T	0.00271	0.0008	M	0.84683	2.71	0.22620	N	0.998922	B	0.06786	0.001	B	0.11329	0.006	T	0.40496	-0.9560	10	0.87932	D	0	-15.3252	8.6337	0.33935	0.0:0.0963:0.0:0.9037	.	142	Q8NGR5	OR1L4_HUMAN	R	142	ENSP00000259466:C142R	ENSP00000259466:C142R	C	+	1	0	OR1L4	124526513	0.993000	0.37304	0.595000	0.28798	0.057000	0.15508	2.350000	0.44063	0.572000	0.29383	0.248000	0.18094	TGC		0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			176	804	0	0	0	1	0	176	804					C	125486692	T	C	125486692	3	2	79	1	0	0	0	0	1	0	0	0	11007	1812	63	4	426	4	OR1L4	9	125486692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371	125486692	15726739	10392	20709											
OR1L6	392390	broad.mit.edu	37	chr9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcaggcttcatcctcCtgggcctctcttccaaccct	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000373684.1	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M	OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(154-156)Ctg>Atg		olfactory receptor, family 1, subfamily L, member 6							184	173	176					9																	125512172		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512172C>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.154C>A	9.37:g.125512172C>A	ENSP00000362788:p.Leu52Met					OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M	p.L52M			Q8NGR2	OR1L6_HUMAN			1	154	+			52					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.154C>A		.	.	.	.	.	.	.	.	.	.	.	13.22	2.171199	0.38315	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00637	6.05;6.05	4.55	3.65	0.41850	.	0.000000	0.39475	N	0.001356	T	0.02012	0.0063	L	0.46947	1.48	0.28760	N	0.900933	D	0.76494	0.999	D	0.85130	0.997	T	0.31336	-0.9947	10	0.56958	D	0.05	-10.2205	10.6813	0.45815	0.0:0.9051:0.0:0.0949	.	52	Q8NGR2	OR1L6_HUMAN	M	52;16	ENSP00000362788:L52M;ENSP00000304235:L16M	ENSP00000304235:L16M	L	+	1	2	OR1L6	124551993	0.000000	0.05858	0.994000	0.49952	0.500000	0.33767	-0.367000	0.07553	1.267000	0.44247	-0.140000	0.14226	CTG		0.542	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				37	799	1	0	1.30998e-17	1	1.44773e-17	37	799					A	125512172	C	A	125512172	3	1	79	1	0	0	0	0	1	0	0	0	11008	680	24	3	48	3	OR1L6	9	125512172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25480	125512172	15701259	10393	20710											
OR1L6	392390	broad.mit.edu	37	chr9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctgctggcctctatgGccatcgaccggctggtggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000373684.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(466-468)Gcc>Acc		olfactory receptor, family 1, subfamily L, member 6							109	93	98					9																	125512484		2203	4298	6501	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512484G>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.466G>A	9.37:g.125512484G>A	ENSP00000362788:p.Ala156Thr					OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T	p.A156T			Q8NGR2	OR1L6_HUMAN			1	466	+			156					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.466G>A		.	.	.	.	.	.	.	.	.	.	.	24.0	4.485945	0.84854	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13307	2.6;2.6	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.45657	0.1353	M	0.90425	3.115	0.48087	D	0.999587	D	0.76494	0.999	D	0.81914	0.995	T	0.56872	-0.7907	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:0.0:1.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	T	156;120	ENSP00000362788:A156T;ENSP00000304235:A120T	ENSP00000304235:A120T	A	+	1	0	OR1L6	124552305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.208000	0.65203	2.557000	0.86248	0.655000	0.94253	GCC		0.512	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				84	482	0	0	0	1	0	84	482					A	125512484	G	A	125512484	3	1	79	1	0	0	0	0	1	0	0	0	11008	1203	42	2	360	2	OR1L6	9	125512484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	125512484	15700947	10394	20711											
OR1L6	392390	broad.mit.edu	37	chr9	125513037	125513037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaggggtttgaagaAattacaggacagaatttacc	11	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125513037A>G	ENST00000373684.1	+	1	1019	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGTTTGAAGAAATTACAGGAC	0.403																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(1018-1020)aAa>aGa		olfactory receptor, family 1, subfamily L, member 6							58	56	57					9																	125513037		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125513037A>G		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.1019A>G	9.37:g.125513037A>G	ENSP00000362788:p.Lys340Arg					OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R	p.K340R			Q8NGR2	OR1L6_HUMAN			1	1019	+			340					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.1019A>G		.	.	.	.	.	.	.	.	.	.	A	6.901	0.535842	0.13188	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.37915	1.17;1.17	4.11	2.99	0.34606	.	0.102660	0.42964	D	0.000632	T	0.12603	0.0306	N	0.04669	-0.19	0.30572	N	0.763362	B	0.17465	0.022	B	0.14578	0.011	T	0.28138	-1.0053	10	0.02654	T	1	-6.8199	7.3695	0.26794	0.8911:0.0:0.1089:0.0	.	340	Q8NGR2	OR1L6_HUMAN	R	340;304	ENSP00000362788:K340R;ENSP00000304235:K304R	ENSP00000304235:K304R	K	+	2	0	OR1L6	124552858	0.010000	0.17322	0.712000	0.30502	0.330000	0.28571	0.694000	0.25512	1.848000	0.53677	0.533000	0.62120	AAA		0.403	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				7	249	0	0	0	1	0	7	249					G	125513037	A	G	125513037	3	3	79	1	0	0	0	0	1	0	0	0	11008	14	1	4	913	4	OR1L6	9	125513037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553	125513037	15700394	10395	20712											
OR5C1	392391	broad.mit.edu	37	chr9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccggctccacacacCtatgtacttcttcctggcca	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(184-186)cCt>cTt		olfactory receptor, family 5, subfamily C, member 1							144	133	136					9																	125551396		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551396C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.185C>T	9.37:g.125551396C>T	ENSP00000362784:p.Pro62Leu						p.P62L	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	247	+			62					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.185C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780487	0.90195	.	.	ENSG00000148215	ENST00000373680	T	0.02032	4.49	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	U	0.002743	T	0.15696	0.0378	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00077	-1.2115	10	0.87932	D	0	.	17.8648	0.88793	0.0:1.0:0.0:0.0	.	62	Q8NGR4	OR5C1_HUMAN	L	62	ENSP00000362784:P62L	ENSP00000362784:P62L	P	+	2	0	OR5C1	124591217	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	4.795000	0.62489	2.741000	0.93983	0.650000	0.86243	CCT		0.627	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			129	576	0	0	0	1	0	129	576					T	125551396	C	T	125551396	3	4	79	1	0	0	0	0	1	0	0	0	11195	681	24	2	187	2	OR5C1	9	125551396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38359	125551396	15662035	10396	20713											
OR1K1	392392	broad.mit.edu	37	chr9	125563013	125563013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcatcttcaccgagggCgccgcagtggtggtcactcc	12	15	4	0	rs201462124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		20184	0.002		0.0	False		,,,				2504	0.001					ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(610-612)ggC>ggT		olfactory receptor, family 1, subfamily K, member 1							80	68	72					9																	125563013		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563013C>T	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.612C>T	9.37:g.125563013C>T							p.G204G	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	644	+			204					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.612C>T	CCDS35132.1																																																																																				0.637	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			82	328	0	0	0	1	0	82	328					T	125563013	C	T	125563013	2	4	79	1	0	0	0	0	0	0	0	1	11004	755	27	1		1	OR1K1	9	125563013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11617	125563013	15650418	10397	20714											
PDCL	5082	broad.mit.edu	37	chr9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgacagcttcttgatcaGcctttccatctcccggcact	6	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	87					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(259-261)Ctg>Atg		phosducin-like							251	214	227					9																	125585390		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125585390G>T	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.259C>A	9.37:g.125585390G>T	ENSP00000259467:p.Leu87Met						p.L87M	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			3	424	-			87					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.259C>A	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433300|4.433300	0.83776|0.83776	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.54071	.|0.59	5.98|5.98	5.08|5.08	0.68730|0.68730	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69260|0.69260	0.3091|0.3091	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|D;D	.|0.64877	.|0.93;0.93	T|T	0.71251|0.71251	-0.4648|-0.4648	5|10	.|0.66056	.|D	.|0.02	-16.2229|-16.2229	14.7352|14.7352	0.69412|0.69412	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|87;87	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	D|M	53;75|87	.|ENSP00000259467:L87M	.|ENSP00000259467:L87M	A|L	-|-	2|1	0|2	PDCL|PDCL	124625211|124625211	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.470000|9.470000	0.97683|0.97683	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.522	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		151	720	1	0	2.05974e-71	1	2.61908e-71	151	720					T	125585390	G	T	125585390	3	4	79	1	0	0	0	0	1	0	0	0	11668	962	34	3	654	3	PDCL	9	125585390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22377	125585390	15628041	10398	20715											
RC3H2	54542	broad.mit.edu	37	chr9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaattccgtttgtacttgGaacaattttccctgttgttt	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	491					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1471-1473)Cca>Tca		ring finger and CCCH-type domains 2							186	169	174					9																	125627791		1887	4104	5991	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125627791G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1471C>T	9.37:g.125627791G>A	ENSP00000362774:p.Pro491Ser					RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S	p.P491S			Q9HBD1	RC3H2_HUMAN			9	2071	-			491					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1471C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765436	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.43294	0.95;0.95;0.96	5.97	4.12	0.48240	.	0.260591	0.38720	N	0.001600	T	0.48333	0.1494	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	T	0.33979	-0.9847	10	0.24483	T	0.36	-8.3702	14.8346	0.70172	0.0:0.2712:0.7288:0.0	.	491;491	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	S	491;491;362;491	ENSP00000362774:P491S;ENSP00000349783:P491S;ENSP00000411767:P491S	ENSP00000349783:P491S	P	-	1	0	RC3H2	124667612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.727000	0.47311	0.841000	0.35020	-0.156000	0.13503	CCA		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		62	350	0	0	0	1	0	62	350					A	125627791	G	A	125627791	3	1	79	1	0	0	0	0	1	0	0	0	13217	1174	41	2	2230	2	RC3H2	9	125627791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42401	125627791	15585640	10399	20716											
RC3H2	54542	broad.mit.edu	37	chr9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacgagctgctcgcatggctCttacacgaccttcttcctcc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	150					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(448-450)aGa>aTa		ring finger and CCCH-type domains 2							104	105	105					9																	125652725		1961	4173	6134	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125652725C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.449G>T	9.37:g.125652725C>A	ENSP00000362774:p.Arg150Ile					RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I	p.R150I			Q9HBD1	RC3H2_HUMAN			3	1049	-			150					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.449G>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269290	0.95429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.994	D;D;D;D	0.83275	0.979;0.944;0.996;0.975	D	0.98019	1.0370	10	0.87932	D	0	-25.9351	18.5797	0.91166	0.0:1.0:0.0:0.0	.	150;150;150;150	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	I	150;150;21;150;150;150	ENSP00000362774:R150I;ENSP00000349783:R150I;ENSP00000411767:R150I;ENSP00000362769:R150I;ENSP00000335150:R150I	ENSP00000335150:R150I	R	-	2	0	RC3H2	124692546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.636000	0.89361	0.491000	0.48974	AGA		0.502	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		79	281	1	0	1.10181e-30	1	1.29357e-30	79	281					A	125652725	C	A	125652725	3	1	79	1	0	0	0	0	1	0	0	0	13217	913	32	3	3276	3	RC3H2	9	125652725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24934	125652725	15560706	10400	20717											
RC3H2	54542	broad.mit.edu	37	chr9	125659639	125659639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagtctggtcaaaaggAcaagcttttcgatgaagttt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	50					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGTCAAAAGGACAAGCTTTTC	0.403																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(148-150)tgT>tgC		ring finger and CCCH-type domains 2							107	102	104					9																	125659639		1917	4129	6046	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125659639A>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.150T>C	9.37:g.125659639A>G						RC3H2_ENST00000471874.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Silent_p.C50C	p.C50C			Q9HBD1	RC3H2_HUMAN			1	750	-			50					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.150T>C	CCDS43874.1																																																																																				0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		28	205	0	0	0	1	0	28	205					G	125659639	A	G	125659639	2	3	79	1	0	0	0	0	0	0	0	1	13217	273	10	4		4	RC3H2	9	125659639	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	125659639	15553792	10401	20718											
RC3H2	54542	broad.mit.edu	37	chr9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtttgtgcacattctcatCaaattcattatagcagattg	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	22					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(64-66)Gat>Aat		ring finger and CCCH-type domains 2							91	86	87					9																	125659725		1918	4121	6039	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125659725C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.64G>A	9.37:g.125659725C>T	ENSP00000362774:p.Asp22Asn					RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N	p.D22N			Q9HBD1	RC3H2_HUMAN			1	664	-			22					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.64G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125828	0.94429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	N	0.16903	0.455	0.58432	D	0.999999	B;D;B;D	0.67145	0.02;0.993;0.033;0.996	B;D;B;D	0.79784	0.072;0.971;0.036;0.993	D	0.87560	0.2471	10	0.34782	T	0.22	4.0E-4	19.8676	0.96824	0.0:1.0:0.0:0.0	.	22;22;22;22	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	22	ENSP00000362774:D22N;ENSP00000349783:D22N;ENSP00000411767:D22N;ENSP00000362769:D22N;ENSP00000335150:D22N	ENSP00000335150:D22N	D	-	1	0	RC3H2	124699546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT		0.443	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		19	124	0	0	0	1	0	19	124					T	125659725	C	T	125659725	3	4	79	1	0	0	0	0	1	0	0	0	13217	826	29	2	3669	2	RC3H2	9	125659725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	125659725	15553706	10402	20719											
ZBTB26	57684	broad.mit.edu	37	chr9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagggcctgtgtgcAccgttctacaatgtggctca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCCTGTGTGCACCGTTCTACA	0.443																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(355-357)Tgc>Cgc		zinc finger and BTB domain containing 26							137	120	125					9																	125681859		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681859A>G	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.355T>C	9.37:g.125681859A>G	ENSP00000362760:p.Cys119Arg					ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	428	-			119					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.355T>C	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955099	0.53293	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76647	-0.2882	10	0.87932	D	0	.	15.6989	0.77528	1.0:0.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	R	119	ENSP00000362760:C119R;ENSP00000362758:C119R	ENSP00000362758:C119R	C	-	1	0	ZBTB26	124721680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.962000	0.93254	2.107000	0.64212	0.482000	0.46254	TGC		0.443	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		43	484	0	0	0	1	0	43	484					G	125681859	A	G	125681859	3	3	79	1	0	0	0	0	1	0	0	0	17586	159	6	4	974	4	ZBTB26	9	125681859	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22134	125681859	15531572	10403	20720											
RABGAP1	23637	broad.mit.edu	37	chr9	125746835	125746835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggatcctccaatggaCgaccagccaggggaaaagga	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	74					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(220-222)gaC>gaT		RAB GTPase activating protein 1							107	89	95					9																	125746835		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125746835C>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.222C>T	9.37:g.125746835C>T							p.D74D	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			3	356	+			74					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.222C>T	CCDS6848.2																																																																																				0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		30	203	0	0	0	1	0	30	203					T	125746835	C	T	125746835	2	4	79	1	0	0	0	0	0	0	0	1	13014	535	19	1		1	RABGAP1	9	125746835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64976	125746835	15466596	10404	20721											
RABGAP1	23637	broad.mit.edu	37	chr9	125758828	125758828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttttgtaggtgttttggtCttctccttagtccaggaaaa	9	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125758828C>A	ENST00000373647.4	+	8	1179	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	349					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTGTTTTGGTCTTCTCCTTAG	0.289																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1045-1047)Ctt>Att		RAB GTPase activating protein 1							87	85	86					9																	125758828		2203	4295	6498	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125758828C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1045C>A	9.37:g.125758828C>A	ENSP00000362751:p.Leu349Ile						p.L349I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			8	1179	+			349					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1045C>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843805	0.71488	.	.	ENSG00000011454	ENST00000373647;ENST00000426918	T	0.05996	3.36	5.73	4.82	0.62117	.	0.077131	0.53938	D	0.000052	T	0.11281	0.0275	L	0.47190	1.495	0.80722	D	1	P	0.42337	0.776	P	0.48840	0.592	T	0.01748	-1.1282	10	0.66056	D	0.02	-7.2032	10.123	0.42632	0.0:0.7907:0.1382:0.0711	.	349	Q9Y3P9	RBGP1_HUMAN	I	349;180	ENSP00000362751:L349I	ENSP00000362751:L349I	L	+	1	0	RABGAP1	124798649	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.590000	0.53979	1.389000	0.46526	0.591000	0.81541	CTT		0.289	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		7	289	1	0	5.4927e-09	1	5.7613e-09	7	289					A	125758828	C	A	125758828	3	1	79	1	0	0	0	0	1	0	0	0	13014	913	32	3	1071	3	RABGAP1	9	125758828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11993	125758828	15454603	10405	20722											
GPR21	2844	broad.mit.edu	37	chr9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacacaaaggatatcagcGaaaggcaagcccgcttcagc	10	12	2	0	rs200361773	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	227					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512													g|||	2	0.000399361	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.001					ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(679-681)Gaa>Aaa		G protein-coupled receptor 21							121	116	118					9																	125797524		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797524G>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.679G>A	9.37:g.125797524G>A	ENSP00000362746:p.Glu227Lys					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	p.E227K	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	719	+			227					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.679G>A	CCDS6849.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.383	-0.927655	0.02377	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.37058	1.22	5.67	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.157646	0.38605	N	0.001629	T	0.21550	0.0519	L	0.28556	0.865	0.80722	D	1	P	0.40660	0.726	B	0.38655	0.278	T	0.08617	-1.0713	10	0.02654	T	1	-1.093	11.394	0.49830	0.1967:0.0:0.8033:0.0	.	227	Q99679	GPR21_HUMAN	K	227	ENSP00000362746:E227K	ENSP00000362746:E227K	E	+	1	0	GPR21	124837345	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.264000	0.51553	0.358000	0.24211	-1.399000	0.01144	GAA		0.512	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		136	564	0	0	0	1	0	136	564					A	125797524	G	A	125797524	3	1	79	1	0	0	0	0	1	0	0	0	6710	1059	37	1	681	1	GPR21	9	125797524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38696	125797524	15415907	10406	20723											
RABGAP1	23637	broad.mit.edu	37	chr9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagacgctcaagaaccagCtgagagaaatggagctagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1007					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(3019-3021)Ctg>Atg		RAB GTPase activating protein 1							77	76	76					9																	125863974		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125863974C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3019C>A	9.37:g.125863974C>A	ENSP00000362751:p.Leu1007Met					RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	p.L1007M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			25	3153	+			1007					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.3019C>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946014	0.73672	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17528	3.2;2.27	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	P	0.42357	0.777	B	0.42555	0.391	T	0.00529	-1.1687	10	0.51188	T	0.08	-14.6153	19.5755	0.95441	0.0:1.0:0.0:0.0	.	1007	Q9Y3P9	RBGP1_HUMAN	M	1007;346	ENSP00000362751:L1007M;ENSP00000362747:L346M	ENSP00000362747:L346M	L	+	1	2	RABGAP1	124903795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.865000	0.98341	0.655000	0.94253	CTG		0.488	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		35	165	1	0	1.30998e-17	1	1.44773e-17	35	165					A	125863974	C	A	125863974	3	1	79	1	0	0	0	0	1	0	0	0	13014	796	28	3	3113	3	RABGAP1	9	125863974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66450	125863974	15349457	10407	20724											
CRB2	286204	broad.mit.edu	37	chr9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgacactgtggcagGctatatctgcaggtgcccag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000373629.2_Missense_Mutation_p.G47D|CRB2_ENST00000359999.3_Missense_Mutation_p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	379	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1135-1137)gGc>gAc		crumbs homolog 2 (Drosophila)							49	52	51					9																	126132468		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132468G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1136G>A	9.37:g.126132468G>A	ENSP00000362734:p.Gly379Asp					CRB2_ENST00000359999.3_Missense_Mutation_p.G379D|CRB2_ENST00000373629.2_Missense_Mutation_p.G47D	p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1137	+			379			EGF-like 8; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1136G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	0.707	-0.788613	0.02884	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92965	-2.27;-2.27;-3.14	4.86	2.63	0.31362	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.209127	0.24215	N	0.040488	D	0.86590	0.5969	M	0.67953	2.075	0.32023	N	0.600576	B;B	0.12013	0.005;0.005	B;B	0.14578	0.005;0.011	T	0.74985	-0.3477	10	0.14656	T	0.56	.	2.3514	0.04284	0.2896:0.3183:0.392:0.0	.	379;379	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	379;379;47	ENSP00000353092:G379D;ENSP00000362734:G379D;ENSP00000362732:G47D	ENSP00000353092:G379D	G	+	2	0	CRB2	125172289	0.978000	0.34361	0.979000	0.43373	0.061000	0.15899	0.925000	0.28791	0.978000	0.38470	0.448000	0.29417	GGC		0.627	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		57	247	0	0	0	1	0	57	247					A	126132468	G	A	126132468	3	1	79	1	0	0	0	0	1	0	0	0	3858	1203	42	2	1162	2	CRB2	9	126132468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268494	126132468	15080963	10408	20725											
CRB2	286204	broad.mit.edu	37	chr9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggaccttggccactcGcaatgacaccaaggaaagct	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000373629.2_Missense_Mutation_p.R145L|CRB2_ENST00000359999.3_Missense_Mutation_p.R477L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	477	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1429-1431)cGc>cTc		crumbs homolog 2 (Drosophila)							55	47	50					9																	126132762		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132762G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1430G>T	9.37:g.126132762G>T	ENSP00000362734:p.Arg477Leu					CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	p.R477L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1431	+			477			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1430G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528863	0.27387	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.381500	0.19233	N	0.119356	T	0.63604	0.2525	L	0.43598	1.365	0.50039	D	0.999842	B;P	0.37233	0.22;0.588	B;B	0.36719	0.165;0.231	T	0.54523	-0.8281	10	0.27785	T	0.31	.	9.2438	0.37513	0.0768:0.0:0.7738:0.1494	.	477;477	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	477;477;145	ENSP00000353092:R477L;ENSP00000362734:R477L;ENSP00000362732:R145L	ENSP00000353092:R477L	R	+	2	0	CRB2	125172583	0.982000	0.34865	0.546000	0.28166	0.431000	0.31685	2.445000	0.44899	0.453000	0.26858	0.448000	0.29417	CGC		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		38	164	1	0	8.73648e-17	1	9.61379e-17	38	164					T	126132762	G	T	126132762	3	4	79	1	0	0	0	0	1	0	0	0	3858	1087	38	3	1456	3	CRB2	9	126132762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	126132762	15080669	10409	20726											
CRB2	286204	broad.mit.edu	37	chr9	126132862	126132862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtcctgagactgccGgacctggccctaaacgatgg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132862G>A	ENST00000373631.3	+	7	1531	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	CRB2_ENST00000373629.2_Silent_p.P178P|CRB2_ENST00000359999.3_Silent_p.P510P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	510	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGACTGCCGGACCTGGCCC	0.612																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1528-1530)ccG>ccA		crumbs homolog 2 (Drosophila)							81	68	72					9																	126132862		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132862G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1530G>A	9.37:g.126132862G>A						CRB2_ENST00000359999.3_Silent_p.P510P|CRB2_ENST00000373629.2_Silent_p.P178P	p.P510P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1531	+			510			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1530G>A	CCDS6852.2																																																																																				0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		68	315	0	0	0	1	0	68	315					A	126132862	G	A	126132862	2	1	79	1	0	0	0	0	0	0	0	1	3858	1103	39	1		1	CRB2	9	126132862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	126132862	15080569	10410	20727											
DENND1A	57706	broad.mit.edu	37	chr9	126202642	126202642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccagggtacacacctgTccaaagtggactgtgattgg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000394219.3_Silent_p.G463G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	495					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACACACCTGTCCAAAGTGGA	0.517																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1483-1485)ggA>ggG		DENN/MADD domain containing 1A							54	46	49					9																	126202642		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126202642T>C	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1485A>G	9.37:g.126202642T>C						DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000542603.1_Silent_p.G237G	p.G495G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			19	1686	-			495					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.1485A>G	CCDS35133.1																																																																																				0.517	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		37	190	0	0	0	1	0	37	190					C	126202642	T	C	126202642	2	2	79	1	0	0	0	0	0	0	0	1	4442	1654	58	4		4	DENND1A	9	126202642	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69780	126202642	15010789	10411	20728											
DENND1A	57706	broad.mit.edu	37	chr9	126219702	126219702	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaattgagaagatctaatcGaccatcaataaactatagaa	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126219702G>A	ENST00000373624.2	-	15	1312	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGATCTAATCGACCATCAATA	0.428																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1111-1113)Cga>Tga		DENN/MADD domain containing 1A							104	101	102					9																	126219702		2203	4300	6503	SO:0001587	stop_gained	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126219702G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1111C>T	9.37:g.126219702G>A	ENSP00000362727:p.Arg371*					DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*	p.R371*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			15	1312	-			371			dDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Nonsense_Mutation	SNP	ENST00000373624.2	37	c.1111C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	41	8.983402	0.99025	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.46	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1027	12.6399	0.56705	0.0:0.0:0.6249:0.3751	.	.	.	.	X	371;113;339;371;341;339	.	ENSP00000362720:R339X	R	-	1	2	DENND1A	125259523	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	3.399000	0.52586	1.300000	0.44818	0.655000	0.94253	CGA		0.428	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		10	477	0	0	0	1	0	10	477					A	126219702	G	A	126219702	4	1	79	1	0	0	0	0	0	1	0	0	4442	1066	37	1	2057	1	DENND1A	9	126219702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17060	126219702	14993729	10412	20729											
PSMB7	5695	broad.mit.edu	37	chr9	127177699	127177699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatacaccgacacagcCgccatcttcccaagaaagca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000259457.3	-	1	19	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000536392.1_Silent_p.A2A|PSMB7_ENST00000498485.1_5'Flank	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	2					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536392.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(4-6)gcG>gcA		proteasome (prosome, macropain) subunit, beta type, 7							37	37	37					9																	127177699		2203	4300	6503	SO:0001819	synonymous_variant	5695				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177699C>T	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"Proteasome (prosome, macropain) subunits"	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.6G>A	9.37:g.127177699C>T			OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_ENST00000259457.3_Silent_p.A2A	p.A2A			Q99436	PSB7_HUMAN			1	22	-			2					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Silent	SNP	ENST00000259457.3	37	c.6G>A	CCDS6855.1																																																																																				0.617	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		43	155	0	0	0	1	0	43	155					T	127177699	C	T	127177699	2	4	79	1	0	0	0	0	0	0	0	1	12729	639	23	1		1	PSMB7	9	127177699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957997	127177699	14035732	10413	20730											
NR5A1	2516	broad.mit.edu	37	chr9	127262888	127262888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtctccagcttgaaGccattggcccgaatctgtgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	117					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672																																						ENST00000373588.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(349-351)ggC>ggT		nuclear receptor subfamily 5, group A, member 1							33	36	35					9																	127262888		2145	4137	6282	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127262888G>A	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.351C>T	9.37:g.127262888G>A							p.G117G	NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN			4	547	-			117					O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.351C>T	CCDS6856.1																																																																																				0.672	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		47	188	0	0	0	1	0	47	188					A	127262888	G	A	127262888	2	1	79	1	0	0	0	0	0	0	0	1	10677	958	34	2		2	NR5A1	9	127262888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85189	127262888	13950543	10414	20731											
NR6A1	2649	broad.mit.edu	37	chr9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctccaggcatgccatcttCtctgatagctggaaggaaag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	132					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(394-396)Gaa>Taa		nuclear receptor subfamily 6, group A, member 1							100	88	92					9																	127306128		2203	4300	6503	SO:0001587	stop_gained	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127306128C>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.394G>T	9.37:g.127306128C>A	ENSP00000420267:p.Glu132*					NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*	p.E132*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			4	551	-			132					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	37	c.394G>T	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332443	0.95733	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.7859	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	132;128;128;132;90	.	ENSP00000341135:E132X	E	-	1	0	NR6A1	126345949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.418000	0.82041	0.655000	0.94253	GAA		0.493	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			32	143	1	0	6.70999e-13	1	7.22283e-13	32	143					A	127306128	C	A	127306128	4	1	79	1	0	0	0	0	0	1	0	0	10679	922	32	3	1076	3	NR6A1	9	127306128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43240	127306128	13907303	10415	20732											
OLFML2A	169611	broad.mit.edu	37	chr9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacaggtgtttggggacctgGaccaggtgaggatgacctcg	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	36					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(106-108)Gac>Tac		olfactomedin-like 2A							78	85	83					9																	127549269		2019	4177	6196	SO:0001583	missense	169611							g.chr9:127549269G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.106G>T	9.37:g.127549269G>T	ENSP00000362682:p.Asp36Tyr						p.D36Y	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	106	+			36					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.106G>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613585	0.87359	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	.	0.109377	0.64402	D	0.000008	T	0.69762	0.3147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.94	T	0.72204	-0.4361	10	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	36;36	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	Y	36	ENSP00000336425:D36Y;ENSP00000362682:D36Y	ENSP00000336425:D36Y	D	+	1	0	OLFML2A	126589090	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.587000	0.82613	2.699000	0.92147	0.655000	0.94253	GAC		0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		138	642	1	0	6.46734e-63	1	8.15608e-63	138	642					T	127549269	G	T	127549269	3	4	79	1	0	0	0	0	1	0	0	0	10899	1174	41	3	112	3	OLFML2A	9	127549269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243141	127549269	13664162	10416	20733											
OLFML2A	169611	broad.mit.edu	37	chr9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcggcatcctgtatgCcgtggacacgtacaaccagc	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	587	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1759-1761)gCc>gAc		olfactomedin-like 2A							111	96	101					9																	127572492		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572492C>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1760C>A	9.37:g.127572492C>A	ENSP00000362682:p.Ala587Asp					OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	p.A587D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1760	+			587			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1760C>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	31	5.059241	0.93846	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90563	1.27;-2.69	5.52	5.52	0.82312	Olfactomedin-like (3);	0.057190	0.64402	D	0.000001	D	0.96172	0.8752	M	0.91510	3.215	0.80722	D	1	D;D	0.56968	0.974;0.978	D;D	0.65233	0.915;0.933	D	0.96831	0.9611	10	0.87932	D	0	.	18.0092	0.89218	0.0:1.0:0.0:0.0	.	373;587	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	D	279;587;373	ENSP00000362682:A587D;ENSP00000288815:A373D	ENSP00000288815:A373D	A	+	2	0	OLFML2A	126612313	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GCC		0.657	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		70	334	1	0	6.00099e-30	1	7.02477e-30	70	334					A	127572492	C	A	127572492	3	1	79	1	0	0	0	0	1	0	0	0	10899	739	26	3	1790	3	OLFML2A	9	127572492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23223	127572492	13640939	10417	20734											
OLFML2A	169611	broad.mit.edu	37	chr9	127572610	127572610	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgcctacaccacccagatCgactacaaccccaaggagcg	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	626	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1876-1878)atC>atT		olfactomedin-like 2A							146	117	127					9																	127572610		2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127572610C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1878C>T	9.37:g.127572610C>T						OLFML2A_ENST00000288815.5_Silent_p.I412I	p.I626I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1878	+			626			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.1878C>T	CCDS6857.2																																																																																				0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		54	301	0	0	0	1	0	54	301					T	127572610	C	T	127572610	2	4	79	1	0	0	0	0	0	0	0	1	10899	874	31	1		1	OLFML2A	9	127572610	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	127572610	13640821	10418	20735											
RPL35	11224	broad.mit.edu	37	chr9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcagcgggtacagccGctccttccgctgctgcttct	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	112					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602																																						ENST00000348462.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(334-336)Cgg>Tgg		ribosomal protein L35							48	42	44					9																	127620235		2202	4300	6502	SO:0001583	missense	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127620235G>A	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"L ribosomal proteins"	10344	protein-coding gene	gene with protein product	"60S ribosomal protein L35"					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.334C>T	9.37:g.127620235G>A	ENSP00000259469:p.Arg112Trp					RPL35_ENST00000373570.4_3'UTR	p.R112W	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	4	382	-			112					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	37	c.334C>T	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057092	0.76074	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.76	5.76	0.90799	.	0.157858	0.56097	N	0.000023	T	0.64800	0.2631	L	0.49778	1.585	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58278	-0.7664	9	0.45353	T	0.12	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	112	P42766	RL35_HUMAN	W	112	.	ENSP00000259469:R112W	R	-	1	2	RPL35	126660056	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.313000	0.65798	2.882000	0.98803	0.655000	0.94253	CGG		0.602	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		53	258	0	0	0	1	0	53	258					A	127620235	G	A	127620235	3	1	79	1	0	0	0	0	1	0	0	0	13634	1086	38	1	41	1	RPL35	9	127620235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47625	127620235	13593196	10419	20736											
ARPC5L	81873	broad.mit.edu	37	chr9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggccttagcagtaggaGgactaggctccattataaga	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	139					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(415-417)Gga>Aga		actin related protein 2/3 complex, subunit 5-like							95	78	84					9																	127639172		2203	4300	6503	SO:0001583	missense	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127639172G>A	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"Actin related protein 2/3 complex subunits"	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.415G>A	9.37:g.127639172G>A	ENSP00000345361:p.Gly139Arg					ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R	p.G139R			Q9BPX5	ARP5L_HUMAN			6	1667	+			139					Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	c.415G>A	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599791	0.87055	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89478	0.3748	9	0.87932	D	0	-13.7536	14.1836	0.65590	0.0713:0.0:0.9287:0.0	.	139	Q9BPX5	ARP5L_HUMAN	R	139	.	ENSP00000259477:G139R	G	+	1	0	ARPC5L	126678993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	1.520000	0.48965	0.655000	0.94253	GGA		0.483	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		49	203	0	0	0	1	0	49	203					A	127639172	G	A	127639172	3	1	79	1	0	0	0	0	1	0	0	0	976	1001	35	2	429	2	ARPC5L	9	127639172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18937	127639172	13574259	10420	20737											
SCAI	286205	broad.mit.edu	37	chr9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatgctgctgctggaacttCcagagtttggtgtaaacatc	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	102	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GCTGGAACTTCCAGAGTTTGG	0.368																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(304-306)tgG>tgA		suppressor of cancer cell invasion							83	79	80					9																	127791943		1848	4099	5947	SO:0001587	stop_gained	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127791943C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.306G>A	9.37:g.127791943C>T	ENSP00000336756:p.Trp102*					SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	p.W102*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			4	364	-			102			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Nonsense_Mutation	SNP	ENST00000336505.6	37	c.306G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853612	0.97030	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7216	18.7503	0.91812	0.0:1.0:0.0:0.0	.	.	.	.	X	102;125	.	ENSP00000336756:W102X	W	-	3	0	SCAI	126831764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.775000	0.95449	0.655000	0.94253	TGG		0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		30	130	0	0	0	1	0	30	130					T	127791943	C	T	127791943	4	4	79	1	0	0	0	0	0	1	0	0	13919	856	30	2	1574	2	SCAI	9	127791943	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152771	127791943	13421488	10421	20738											
PPP6C	5537	broad.mit.edu	37	chr9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaacgatagcagtaaTtaggagcagaccatactgtc	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000373547.4	-	7	878	c.779A>C	c.(778-780)aAt>aCt	p.N260T	PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	260					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(889-891)aAt>aCt		protein phosphatase 6, catalytic subunit							135	119	125					9																	127912091		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127912091T>G	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.779A>C	9.37:g.127912091T>G	ENSP00000362648:p.Asn260Thr					PPP6C_ENST00000373547.4_Missense_Mutation_p.N260T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T	p.N297T	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			8	1110	-			260					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.890A>C	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175190	0.57692	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90237	0.4283	10	0.87932	D	0	-14.2754	14.812	0.70003	0.0:0.0:0.0:1.0	.	238;297;260	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	260;297;238;113	ENSP00000362648:N260T;ENSP00000392147:N297T;ENSP00000411744:N238T;ENSP00000362647:N113T	ENSP00000362647:N113T	N	-	2	0	PPP6C	126951912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.650000	0.83521	2.093000	0.63338	0.455000	0.32223	AAT		0.393	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		38	191	0	0	0	1	0	38	191					G	127912091	T	G	127912091	3	3	79	1	0	0	0	0	1	0	0	0	12454	1493	52	4	142	4	PPP6C	9	127912091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120148	127912091	13301340	10422	20739											
RABEPK	10244	broad.mit.edu	37	chr9	127990330	127990330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgacctccactgcaTtgatataagtaagcagggca	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	ENST00000373538.3	+	6	978	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	223					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCACTGCATTGATATAAGT	0.458																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(667-669)aTt>aCt		Rab9 effector protein with kelch motifs							49	49	49					9																	127990330		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990330T>C	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.668T>C	9.37:g.127990330T>C	ENSP00000362639:p.Ile223Thr					RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000394124.4_3'UTR	p.I223T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			6	978	+			223					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.668T>C	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035062	0.54896	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.63913	-0.07;-0.07;-0.07	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.210427	0.48286	D	0.000200	T	0.63570	0.2522	M	0.74881	2.28	0.80722	D	1	B;B;B	0.25609	0.016;0.13;0.016	B;B;B	0.24974	0.012;0.057;0.012	T	0.65055	-0.6261	10	0.54805	T	0.06	-8.861	14.4082	0.67096	0.0:0.0:0.0:1.0	.	223;172;223	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	T	223;172;223	ENSP00000377683:I223T;ENSP00000259460:I172T;ENSP00000362639:I223T	ENSP00000259460:I172T	I	+	2	0	RABEPK	127030151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.211000	0.77933	2.188000	0.69820	0.514000	0.50259	ATT		0.458	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		12	172	0	0	0	1	0	12	172					C	127990330	T	C	127990330	3	2	79	1	0	0	0	0	1	0	0	0	13013	1493	52	4	686	4	RABEPK	9	127990330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78239	127990330	13223101	10423	20740											
HSPA5	3309	broad.mit.edu	37	chr9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaccatacgctacagCttcatctgggtttatgccac	8	13	2	0	rs200526775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	393					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1177-1179)Gct>Act		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						113	95	101					9																	128000926		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128000926C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1177G>A	9.37:g.128000926C>T	ENSP00000324173:p.Ala393Thr	Prostate(1;0.17)					p.A393T	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			6	1380	-			393					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1177G>A	CCDS6863.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.158521	0.94686	.	.	ENSG00000044574	ENST00000324460	T	0.01313	5.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35450	-0.9788	10	0.87932	D	0	-2.8727	16.4549	0.84009	0.0:1.0:0.0:0.0	.	393	P11021	GRP78_HUMAN	T	393	ENSP00000324173:A393T	ENSP00000324173:A393T	A	-	1	0	HSPA5	127040747	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GCT		0.473	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			64	370	0	0	0	1	0	64	370					T	128000926	C	T	128000926	3	4	79	1	0	0	0	0	1	0	0	0	7444	797	28	2	799	2	HSPA5	9	128000926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10596	128000926	13212505	10424	20741											
HSPA5	3309	broad.mit.edu	37	chr9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctattgtctttcctgacatCtttgcccgtcttctttttgt	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	277					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.D277Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468										Prostate(1;0.17)																												ENST00000324460.6																			1	Substitution - Missense(1)	p.D277Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(829-831)Gat>Tat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						79	78	78					9																	128001387		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001387C>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.829G>T	9.37:g.128001387C>A	ENSP00000324173:p.Asp277Tyr	Prostate(1;0.17)					p.D277Y	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			5	1032	-			277					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.829G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	H	0.99475	4.585	0.80722	D	1	P	0.44044	0.825	B	0.43728	0.429	T	0.37009	-0.9724	10	0.87932	D	0	-12.4	15.4514	0.75277	0.0:1.0:0.0:0.0	.	277	P11021	GRP78_HUMAN	Y	277	ENSP00000324173:D277Y	ENSP00000324173:D277Y	D	-	1	0	HSPA5	127041208	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.795000	0.85887	1.864000	0.54056	0.462000	0.41574	GAT		0.468	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			55	281	1	0	2.01807e-28	1	2.34828e-28	55	281					A	128001387	C	A	128001387	3	1	79	1	0	0	0	0	1	0	0	0	7444	913	32	3	1151	3	HSPA5	9	128001387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	128001387	13212044	10425	20742											
HSPA5	3309	broad.mit.edu	37	chr9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggtgagaagagacacatCgaaggttccgccacccaggt	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	231					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(691-693)Gat>Aat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						57	61	60					9																	128001525		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001525C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.691G>A	9.37:g.128001525C>T	ENSP00000324173:p.Asp231Asn	Prostate(1;0.17)					p.D231N	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			5	894	-			231					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.691G>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581633	0.86748	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.16324	2.35	4.36	4.36	0.52297	Heat shock protein 70, conserved site (1);	0.046186	0.85682	N	0.000000	T	0.45994	0.1370	H	0.99555	4.625	0.80722	D	1	P	0.39624	0.681	B	0.40228	0.323	T	0.70839	-0.4763	10	0.87932	D	0	-13.7685	15.8757	0.79159	0.0:1.0:0.0:0.0	.	231	P11021	GRP78_HUMAN	N	231	ENSP00000324173:D231N	ENSP00000324173:D231N	D	-	1	0	HSPA5	127041346	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	7.795000	0.85887	1.964000	0.57103	0.462000	0.41574	GAT		0.488	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			25	205	0	0	0	1	0	25	205					T	128001525	C	T	128001525	3	4	79	1	0	0	0	0	1	0	0	0	7444	884	31	1	1289	1	HSPA5	9	128001525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	128001525	13211906	10426	20743											
GAPVD1	26130	broad.mit.edu	37	chr9	128099755	128099755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccccagctggaaccggcGtccaggaaatgaagagcgag	14	11	0	3	rs138389331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099755G>A	ENST00000495955.1	+	17	3052	c.2762G>A	c.(2761-2763)cGt>cAt	p.R921H	GAPVD1_ENST00000470056.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	921					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGAACCGGCGTCCAGGAAAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.001					ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2761-2763)cGt>cAt		GTPase activating protein and VPS9 domains 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	74	73	73		2843	6.2	1	9	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GAPVD1	NM_015635.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	948/1488	128099755	2,13004	2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099755G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2762G>A	9.37:g.128099755G>A	ENSP00000419063:p.Arg921His					GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H	p.R921H			Q14C86	GAPD1_HUMAN			15	2922	+			921					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2762G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.544289|5.544289	0.96488|0.96488	4.54E-4|4.54E-4	0.0|0.0	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57007|0.57007	0.2024|0.2024	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.989;0.984;0.989;0.989;0.989;0.993|.	T|T	0.47381|0.47381	-0.9122|-0.9122	9|5	0.62326|.	D|.	0.03|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	895;921;921;900;921;948|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	H|I	921;948;921;895;900;921;921;921;900|758	.|.	ENSP00000265956:R895H|.	R|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127139576|127139576	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	9.187000|9.187000	0.94912|0.94912	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.522	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			8	340	0	0	0	1	0	8	340					A	128099755	G	A	128099755	3	1	79	1	0	0	0	0	1	0	0	0	6267	1145	40	1	2901	1	GAPVD1	9	128099755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98230	128099755	13113676	10427	20744											
GAPVD1	26130	broad.mit.edu	37	chr9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtccaggaaatgaagagCgagaactccctccagctgca	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000495955.1	+	17	3069	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	927					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAATGAAGAGCGAGAACTCCC	0.537																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2779-2781)Cga>Tga		GTPase activating protein and VPS9 domains 1							72	71	72					9																	128099772		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099772C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2779C>T	9.37:g.128099772C>T	ENSP00000419063:p.Arg927*					GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*	p.R927*			Q14C86	GAPD1_HUMAN			15	2939	+			927					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.2779C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.005336|9.005336	0.99033|0.99033	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	5.8|5.8	3.8|3.8	0.43715|0.43715	.|.	.|0.100698	.|0.64402	.|D	.|0.000003	T|.	0.35740|.	0.0942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.06891	.|T	.|0.86	.|.	11.9073|11.9073	0.52719|0.52719	0.5343:0.4657:0.0:0.0|0.5343:0.4657:0.0:0.0	.|.	.|.	.|.	.|.	V|X	763|927;954;927;901;906;927;927;927;906	.|.	.|ENSP00000265956:R901X	A|R	+|+	2|1	0|2	GAPVD1|GAPVD1	127139593|127139593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.862000|1.862000	0.39448|0.39448	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.537	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			51	272	0	0	0	1	0	51	272					T	128099772	C	T	128099772	4	4	79	1	0	0	0	0	0	1	0	0	6267	760	27	1	2918	1	GAPVD1	9	128099772	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	128099772	13113659	10428	20745											
GAPVD1	26130	broad.mit.edu	37	chr9	128099865	128099865	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtaaggactcctcaagaGgagaggtatgggacataggc	15	7	1	2	rs202229222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099865G>T	ENST00000495955.1	+	17	3162	c.2872G>T	c.(2872-2874)Gga>Tga	p.G958*	GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	958					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTCCTCAAGAGGAGAGGTATG	0.443																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2872-2874)Gga>Tga		GTPase activating protein and VPS9 domains 1							58	59	59					9																	128099865		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099865G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2872G>T	9.37:g.128099865G>T	ENSP00000419063:p.Gly958*					GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*	p.G958*			Q14C86	GAPD1_HUMAN			15	3032	+			958					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.2872G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	43|43|43	10.267773|10.267773|10.267773	0.99371|0.99371|0.99371	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.|.	.|.|.	.|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.047947|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.82213|.|0.82213	0.4988|.|0.4988	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.82376|.|0.82376	-0.0488|.|-0.0488	3|.|4	.|0.66056|0.66056	.|D|D	.|0.02|0.02	.|.|.	19.8676|19.8676|19.8676	0.96824|0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|M	794|958;985;958;932;937;958;958;958;937|794	.|.|.	.|ENSP00000265956:G932X|ENSP00000391251:R794M	E|G|R	+|+|+	3|1|2	2|0|0	GAPVD1|GAPVD1|GAPVD1	127139686|127139686|127139686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.421000|7.421000|7.421000	0.80204|0.80204|0.80204	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			41	230	1	0	2.77807e-22	1	3.14147e-22	41	230					T	128099865	G	T	128099865	4	4	79	1	0	0	0	0	0	1	0	0	6267	1001	35	3	3011	3	GAPVD1	9	128099865	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	128099865	13113566	10429	20746											
GAPVD1	26130	broad.mit.edu	37	chr9	128104578	128104578	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagattctcaacactcacaGgtttgtagacccatggactt	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000495955.1	+	19	3336	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1016					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACACTCACAGGTTTGTAGAC	0.403																																						ENST00000394104.2																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e17+1		GTPase activating protein and VPS9 domains 1							140	134	136					9																	128104578		2203	4300	6503	SO:0001630	splice_region_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128104578G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3046+1G>T	9.37:g.128104578G>T						GAPVD1_ENST00000265956.4_Splice_Site_p.D990_splice|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043_splice|GAPVD1_ENST00000312123.9_Splice_Site_p.D995_splice|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016_splice|GAPVD1_ENST00000495955.1_Splice_Site_p.D1016_splice|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000470056.1_Intron	p.D1016_splice			Q14C86	GAPD1_HUMAN			17	3206	+			1016					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	ENST00000495955.1	37	c.3046_splice		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552272	0.65311	.	.	ENSG00000165219	ENST00000394105;ENST00000394104;ENST00000265956;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.07	6.07	0.98685	.	0.089689	0.85682	D	0.000000	T	0.56761	0.2007	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49559	0.61;0.729;0.729;0.925	B;P;P;P	0.51355	0.372;0.474;0.474;0.667	T	0.48670	-0.9015	9	0.05436	T	0.98	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1016;995;1016;1043	Q14C86;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.	Y	1043;1016;990;1016;1016;995	.	ENSP00000265956:D990Y	D	+	1	0	GAPVD1	127144399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.047000	0.76599	2.885000	0.99019	0.655000	0.94253	GAT		0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		Missense_Mutation	16	428	1	0	2.31682e-05	1	2.36778e-05	16	428					T	128104578	G	T	128104578	5	4	79	1	0	0	0	0	0	0	1	0	6267	1014	35	3	3193	3	GAPVD1	9	128104578	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4713	128104578	13108853	10430	20747											
GAPVD1	26130	broad.mit.edu	37	chr9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaattcattaaaaccatcGatgaccgaaagtgaccaaga	7	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000495955.1	+	28	4713	c.4423G>A	c.(4423-4425)Gat>Aat	p.D1475N	GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1430N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1475	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAAAACCATCGATGACCGAAA	0.463																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4288-4290)Gat>Aat		GTPase activating protein and VPS9 domains 1							101	88	92					9																	128125011		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128125011G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4423G>A	9.37:g.128125011G>A	ENSP00000419063:p.Asp1475Asn					GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N	p.D1430N			Q14C86	GAPD1_HUMAN			25	4448	+			1475			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.4288G>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148857	0.78001	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.32	5.32	0.75619	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.48218	1.51	0.80722	D	1	P;P;D;D;D;D	0.57571	0.887;0.943;0.98;0.98;0.98;0.965	P;P;P;P;P;P	0.50082	0.614;0.63;0.61;0.61;0.61;0.61	T	0.08249	-1.0731	10	0.42905	T	0.14	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	1475;490;1430;1436;1457;1484	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1430;1484;1475;1449;1409;1475;1457;1436;168	ENSP00000419767:D1430N;ENSP00000377665:D1484N;ENSP00000377664:D1475N;ENSP00000265956:D1449N;ENSP00000377645:D1409N;ENSP00000419063:D1475N;ENSP00000297933:D1457N;ENSP00000309582:D1436N	ENSP00000265956:D1449N	D	+	1	0	GAPVD1	127164832	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.325000	0.96381	2.628000	0.89032	0.655000	0.94253	GAT		0.463	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			53	226	0	0	0	1	0	53	226					A	128125011	G	A	128125011	3	1	79	1	0	0	0	0	1	0	0	0	6267	1058	37	1	4552	1	GAPVD1	9	128125011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20433	128125011	13088420	10431	20748											
PBX3	5090	broad.mit.edu	37	chr9	128723010	128723010	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtacaagaagaacatTggcaagtttcaggaagaagc	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373489.5	+	6	907	c.891T>A	c.(889-891)atT>atA	p.I297I	PBX3_ENST00000373487.4_Silent_p.I318I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	297					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(952-954)atT>atA		pre-B-cell leukemia homeobox 3							71	65	67					9																	128723010		2203	4300	6503	SO:0001819	synonymous_variant	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128723010T>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.891T>A	9.37:g.128723010T>A						PBX3_ENST00000373489.5_Silent_p.I297I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Silent_p.I297I	p.I318I			P40426	PBX3_HUMAN			7	1034	+			297					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	c.954T>A	CCDS6865.1																																																																																				0.483	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			53	167	0	0	0	1	0	53	167					A	128723010	T	A	128723010	2	1	79	1	0	0	0	0	0	0	0	1	11536	1800	63	5		5	PBX3	9	128723010	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	597999	128723010	12490421	10432	20749											
PBX3	5090	broad.mit.edu	37	chr9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctacagtgatggccttgGaggaaattcactgtacagtc	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373489.5	+	8	1194	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PBX3_ENST00000373487.4_Missense_Mutation_p.G414E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	393					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATGGCCTTGGAGGAAATTCA	0.403																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1240-1242)gGa>gAa		pre-B-cell leukemia homeobox 3							106	96	99					9																	128725346		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128725346G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1178G>A	9.37:g.128725346G>A	ENSP00000362588:p.Gly393Glu					PBX3_ENST00000373489.5_Missense_Mutation_p.G393E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR	p.G414E			P40426	PBX3_HUMAN			9	1321	+			393					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.1241G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463730	0.63513	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88201	-2.13;1.94;-2.31;-2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38175	1.15	0.80722	D	1	P;B	0.42078	0.77;0.286	B;B	0.41440	0.357;0.104	T	0.80888	-0.1181	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	414;393	Q5JS98;P40426	.;PBX3_HUMAN	E	393;414;212;318	ENSP00000362588:G393E;ENSP00000362586:G414E;ENSP00000362582:G212E;ENSP00000387456:G318E	ENSP00000362582:G212E	G	+	2	0	PBX3	127765167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GGA		0.403	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			12	96	0	0	0	1	0	12	96					A	128725346	G	A	128725346	3	1	79	1	0	0	0	0	1	0	0	0	11536	1174	41	2	1208	2	PBX3	9	128725346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2336	128725346	12488085	10433	20750											
FAM125B	89853	broad.mit.edu	37	chr9	129154412	129154412	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggattcaacggaagctgcGatttgtgacattcggatcat	12	8	2	1	rs544965778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129154412G>A	ENST00000361171.3	+	5	558	c.477G>A	c.(475-477)gcG>gcA	p.A159A	MVB12B_ENST00000436593.3_Silent_p.A144A|MVB12B_ENST00000535766.1_Silent_p.A152A|MVB12B_ENST00000545391.1_Silent_p.A159A	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	159	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CGGAAGCTGCGATTTGTGACA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.0					ENST00000361171.3																			0											c.(475-477)gcG>gcA		multivesicular body subunit 12B							127	135	132					9																	129154412		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154412G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.477G>A	9.37:g.129154412G>A						MVB12B_ENST00000535766.1_Silent_p.A152A|MVB12B_ENST00000545391.1_Silent_p.A159A|MVB12B_ENST00000436593.3_Silent_p.A144A	p.A159A	NM_033446.2	NP_258257.1					5	558	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.477G>A	CCDS35142.1																																																																																				0.468	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		157	681	0	0	0	1	0	157	681					A	129154412	G	A	129154412	2	1	79	1	0	0	0	0	0	0	0	1	5449	1045	37	1		1	FAM125B	9	129154412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429066	129154412	12059019	10434	20751											
FAM125B	89853	broad.mit.edu	37	chr9	129157960	129157960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagctgcctccaccccaGcccccaaccttcccaggtga	6	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129157960G>A	ENST00000361171.3	+	6	727	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	MVB12B_ENST00000436593.3_Missense_Mutation_p.A201T|MVB12B_ENST00000535766.1_Missense_Mutation_p.A209T|MVB12B_ENST00000545391.1_Missense_Mutation_p.A216T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	216					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCCACCCCAGCCCCCAACCT	0.542																																						ENST00000361171.3																			0											c.(646-648)Gcc>Acc		multivesicular body subunit 12B							134	123	127					9																	129157960		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129157960G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.646G>A	9.37:g.129157960G>A	ENSP00000354772:p.Ala216Thr					MVB12B_ENST00000535766.1_Missense_Mutation_p.A209T|MVB12B_ENST00000545391.1_Missense_Mutation_p.A216T|MVB12B_ENST00000436593.3_Missense_Mutation_p.A201T	p.A216T	NM_033446.2	NP_258257.1					6	727	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.646G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133316	0.77662	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.69	5.69	0.88448	.	0.055983	0.64402	D	0.000001	T	0.52435	0.1734	M	0.63428	1.95	0.48452	D	0.999654	P;B;P;B	0.40931	0.733;0.114;0.659;0.134	B;B;B;B	0.43658	0.426;0.055;0.228;0.112	T	0.43294	-0.9400	10	0.16420	T	0.52	-0.1943	19.8045	0.96525	0.0:0.0:1.0:0.0	.	209;201;85;216	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	T	216;216;201;201;209	ENSP00000354772:A216T;ENSP00000441988:A216T;ENSP00000384751:A201T;ENSP00000401379:A201T;ENSP00000442846:A209T	ENSP00000354772:A216T	A	+	1	0	FAM125B	128197781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.626000	0.74253	2.676000	0.91093	0.655000	0.94253	GCC		0.542	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		19	620	0	0	0	1	0	19	620					A	129157960	G	A	129157960	3	1	79	1	0	0	0	0	1	0	0	0	5449	971	34	2	668	2	FAM125B	9	129157960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3548	129157960	12055471	10435	20752											
LMX1B	4010	broad.mit.edu	37	chr9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgacgggaaggacccgCggaggcccaagcgaccccgg	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					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)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(649-651)Cgg>Tgg		LIM homeobox transcription factor 1, beta							37	39	38					9																	129455510		2202	4300	6502	SO:0001583	missense	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.chr9:129455510C>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.649C>T	9.37:g.129455510C>T	ENSP00000362573:p.Arg217Trp					LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W	p.R217W	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			4	656	+			194					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.649C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG		0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			7	78	0	0	0	1	0	7	78					T	129455510	C	T	129455510	3	4	79	1	0	0	0	0	1	0	0	0	8895	759	27	1	663	1	LMX1B	9	129455510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297550	129455510	11757921	10436	20753											
LMX1B	4010	broad.mit.edu	37	chr9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcagcgactgcttcCtcggctcctcagacgtgggc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000373474.4	+	8	1124	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	373					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)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1129-1131)Ctc>Ttc		LIM homeobox transcription factor 1, beta							113	113	113					9																	129458638		2203	4300	6503	SO:0001583	missense	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.chr9:129458638C>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.1117C>T	9.37:g.129458638C>T	ENSP00000362573:p.Leu373Phe					LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000373474.4_Missense_Mutation_p.L373F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F	p.L377F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			8	1136	+			350					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.1129C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750558	0.49257	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.19	4.29	0.51040	.	0.058355	0.64402	D	0.000005	T	0.76962	0.4061	L	0.43923	1.385	0.50039	D	0.999844	P;P;P	0.49307	0.868;0.922;0.919	P;P;P	0.53912	0.494;0.526;0.737	T	0.73474	-0.3971	10	0.31617	T	0.26	.	9.3609	0.38195	0.0:0.8364:0.0:0.1636	.	354;350;366	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	F	366;373;377;343	ENSP00000436930:L366F;ENSP00000362573:L373F;ENSP00000347684:L377F;ENSP00000390923:L343F	ENSP00000347684:L377F	L	+	1	0	LMX1B	128498459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.768000	0.38511	1.183000	0.42943	0.561000	0.74099	CTC		0.627	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			209	817	0	0	0	1	0	209	817					T	129458638	C	T	129458638	3	4	79	1	0	0	0	0	1	0	0	0	8895	681	24	2	1180	2	LMX1B	9	129458638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3128	129458638	11754793	10437	20754											
LMX1B	4010	broad.mit.edu	37	chr9	129458652	129458652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctcggctcctcagaCgtgggctccctgcaggcccg	12	17	1	1	rs529256518		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000373474.4	+	8	1138	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000526117.1_Silent_p.D370D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	377					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)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTCCTCAGACGTGGGCTCCC	0.637									Nail-Patella Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		14216	0.0		0.0	False		,,,				2504	0.001				Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1141-1143)gaC>gaT		LIM homeobox transcription factor 1, beta							109	111	110					9																	129458652		2203	4300	6503	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.chr9:129458652C>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.1131C>T	9.37:g.129458652C>T						LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000373474.4_Silent_p.D377D|LMX1B_ENST00000526117.1_Silent_p.D370D	p.D381D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			8	1150	+			354					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.1143C>T	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			35	1016	0	0	0	1	0	35	1016					T	129458652	C	T	129458652	2	4	79	1	0	0	0	0	0	0	0	1	8895	535	19	1		1	LMX1B	9	129458652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	129458652	11754779	10438	20755											
ZBTB34	403341	broad.mit.edu	37	chr9	129642452	129642452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagctcctccctgggtgaCgatgggtaccacaccgagat	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000373452.2	+	1	826	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ZBTB34_ENST00000319119.4_Silent_p.D258D			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	254					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.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	0.557																																						ENST00000319119.4																			1	Substitution - coding silent(1)	p.D258D(1)	upper_aerodigestive_tract(1)	endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(772-774)gaC>gaT		zinc finger and BTB domain containing 34							112	119	117					9																	129642452		2096	4223	6319	SO:0001819	synonymous_variant	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642452C>T	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.762C>T	9.37:g.129642452C>T						ZBTB34_ENST00000373452.2_Silent_p.D254D	p.D258D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	859	+			254					Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	c.774C>T	CCDS48023.1																																																																																				0.557	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		73	437	0	0	0	1	0	73	437					T	129642452	C	T	129642452	2	4	79	1	0	0	0	0	0	0	0	1	17590	535	19	1		1	ZBTB34	9	129642452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183800	129642452	11570979	10439	20756											
RALGPS1	9649	broad.mit.edu	37	chr9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaattggactacctgAtgtcgaaagaagataattac	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	178	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(532-534)Atg>Ctg		Ral GEF with PH domain and SH3 binding motif 1							100	101	101					9																	129831557		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129831557A>C	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.532A>C	9.37:g.129831557A>C	ENSP00000259351:p.Met178Leu					RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L	p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			8	799	+			178			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.532A>C	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117738	0.08881	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.34	4.2	0.49525	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.246145	0.42682	D	0.000675	T	0.16981	0.0408	N	0.16478	0.41	0.24790	N	0.992763	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.003;0.004;0.005	T	0.16453	-1.0402	10	0.28530	T	0.3	.	7.1063	0.25366	0.6705:0.2538:0.0757:0.0	.	178;178;178;178	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	178;178;178;178;148;178;178	ENSP00000259351:M178L;ENSP00000415630:M178L;ENSP00000377590:M178L;ENSP00000317149:M148L;ENSP00000362535:M178L;ENSP00000362533:M178L	ENSP00000259351:M178L	M	+	1	0	RALGPS1	128871378	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.304000	0.65744	0.989000	0.38761	-0.276000	0.10085	ATG		0.363	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		66	242	0	0	0	1	0	66	242					C	129831557	A	C	129831557	3	2	79	1	0	0	0	0	1	0	0	0	13067	333	12	4	558	4	RALGPS1	9	129831557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	189105	129831557	11381874	10440	20757											
RALGPS1	9649	broad.mit.edu	37	chr9	129958828	129958828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaggcacctactggaCgacagtgtcctagagtcccg	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)gaC>gaT		Ral GEF with PH domain and SH3 binding motif 1							175	158	164					9																	129958828		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958828C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1113C>T	9.37:g.129958828C>T						RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	p.D371D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			13	1380	+			371					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1113C>T	CCDS35143.1																																																																																				0.537	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		80	388	0	0	0	1	0	80	388					T	129958828	C	T	129958828	2	4	79	1	0	0	0	0	0	0	0	1	13067	535	19	1		1	RALGPS1	9	129958828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127271	129958828	11254603	10441	20758											
RALGPS1	9649	broad.mit.edu	37	chr9	129961313	129961313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtagtgagagctcagaGtttagtgaagagatgtcttc	14	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129961313G>A	ENST00000259351.5	+	14	1482	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	405					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAGCTCAGAGTTTAGTGAAG	0.597											OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1213-1215)gaG>gaA		Ral GEF with PH domain and SH3 binding motif 1							206	192	197					9																	129961313		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129961313G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1215G>A	9.37:g.129961313G>A			OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	p.E405E	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			14	1482	+			405					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1215G>A	CCDS35143.1																																																																																				0.597	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		15	608	0	0	0	1	0	15	608					A	129961313	G	A	129961313	2	1	79	1	0	0	0	0	0	0	0	1	13067	1020	36	2		2	RALGPS1	9	129961313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2485	129961313	11252118	10442	20759											
RALGPS1	9649	broad.mit.edu	37	chr9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagctgcccgatgaccccGagcacccagatatcttccag	9	16	1	2	rs199937278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	505	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.0					ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1513-1515)Gag>Aag		Ral GEF with PH domain and SH3 binding motif 1							62	60	61					9																	129975289		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129975289G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1513G>A	9.37:g.129975289G>A	ENSP00000259351:p.Glu505Lys					RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K	p.E505K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			17	1780	+			505			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1513G>A	CCDS35143.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.48	2.547441	0.45383	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.76186	-1.0;-1.0;-1.0	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.173457	0.49916	D	0.000135	T	0.66386	0.2784	L	0.40543	1.245	0.40964	D	0.984648	B;B;P	0.39576	0.05;0.069;0.679	B;B;B	0.36289	0.013;0.005;0.221	T	0.64643	-0.6359	10	0.15499	T	0.54	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	463;455;505	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	K	505;463;455	ENSP00000259351:E505K;ENSP00000415630:E463K;ENSP00000362533:E455K	ENSP00000259351:E505K	E	+	1	0	RALGPS1	129015110	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAG		0.572	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		38	280	0	0	0	1	0	38	280					A	129975289	G	A	129975289	3	1	79	1	0	0	0	0	1	0	0	0	13067	1059	37	1	1575	1	RALGPS1	9	129975289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	129975289	11238142	10443	20760											
SLC2A8	29988	broad.mit.edu	37	chr9	130167730	130167730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggggcccatcccctgGctcctcatgtcagagatctt	12	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130167730G>A	ENST00000373371.3	+	9	1271	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	394					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCATCCCCTGGCTCCTCATGT	0.627																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1180-1182)tgG>tgA		solute carrier family 2 (facilitated glucose transporter), member 8							78	69	72					9																	130167730		2203	4299	6502	SO:0001587	stop_gained	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167730G>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1182G>A	9.37:g.130167730G>A	ENSP00000362469:p.Trp394*					SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	p.W394*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1271	+			394					Q8WUZ9|Q9NSC4	Nonsense_Mutation	SNP	ENST00000373371.3	37	c.1182G>A	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151307	0.94645	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	.	.	.	5.35	5.35	0.76521	.	0.056509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	.	.	.	X	394;231;131;233;259;259;233	.	ENSP00000362448:W259X	W	+	3	0	SLC2A8	129207551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	TGG		0.627	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		7	303	0	0	0	1	0	7	303					A	130167730	G	A	130167730	4	1	79	1	0	0	0	0	0	1	0	0	14601	1212	42	2	1216	2	SLC2A8	9	130167730	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192441	130167730	11045701	10444	20761											
SLC2A8	29988	broad.mit.edu	37	chr9	130169397	130169397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctctctgcaggaggtcCtcaggccctatggagccttc	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130169397C>T	ENST00000373371.3	+	10	1392	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	435					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCAGGAGGTCCTCAGGCCCTA	0.567																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1303-1305)Ctc>Ttc		solute carrier family 2 (facilitated glucose transporter), member 8							144	128	133					9																	130169397		2203	4300	6503	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130169397C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1303C>T	9.37:g.130169397C>T	ENSP00000362469:p.Leu435Phe					SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F	p.L435F	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			10	1392	+			435					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1303C>T	CCDS6870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.872672|1.872672	0.33069|0.33069	.|.	.|.	ENSG00000136856|ENSG00000136856	ENST00000373371;ENST00000373352|ENST00000373360	T;T|T	0.76060|0.56941	-0.99;-0.99|0.43	5.24|5.24	5.24|5.24	0.73138|0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.142073|.	0.48286|.	D|.	0.000199|.	T|T	0.42381|0.42381	0.1200|0.1200	N|N	0.21282|0.21282	0.65|0.65	0.54753|0.54753	D|D	0.999988|0.999988	D|B	0.89917|0.24258	1.0|0.1	D|B	0.97110|0.21708	1.0|0.036	T|T	0.39542|0.39542	-0.9609|-0.9609	10|9	0.21540|0.87932	T|D	0.41|0	.|.	16.3503|16.3503	0.83202|0.83202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	435|386	Q9NY64|Q5VVV9	GTR8_HUMAN|.	F|L	435;172|386	ENSP00000362469:L435F;ENSP00000362450:L172F|ENSP00000362458:P386L	ENSP00000362450:L172F|ENSP00000362458:P386L	L|P	+|+	1|2	0|0	SLC2A8|SLC2A8	129209218|129209218	0.629000|0.629000	0.27146|0.27146	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	2.375000|2.375000	0.44283|0.44283	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.567	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		22	689	0	0	0	1	0	22	689					T	130169397	C	T	130169397	3	4	79	1	0	0	0	0	1	0	0	0	14601	681	24	2	1341	2	SLC2A8	9	130169397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	130169397	11044034	10445	20762											
ZNF79	7633	broad.mit.edu	37	chr9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaattcataccggagagaaGccctacgaatgcagcgactg	11	10	1	2	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(907-909)aaG>aaT		zinc finger protein 79		G	ASN/LYS	0,4406		0,0,2203	120	105	110		909	-4.4	0.5	9	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF79	NM_007135.2	94	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	303/499	130206888	2,13004	2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206888G>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.909G>T	9.37:g.130206888G>T	ENSP00000362446:p.Lys303Asn					ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	p.K303N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1315	+			303					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.909G>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	0.0	2.33E-4	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.26067	1.76;1.76	3.83	-4.36	0.03645	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.69463	2.115	0.39429	D	0.967041	D	0.71674	0.998	D	0.68483	0.958	T	0.49224	-0.8962	9	0.87932	D	0	.	11.344	0.49550	0.7632:0.0:0.2368:0.0	.	303	Q15937	ZNF79_HUMAN	N	303;279	ENSP00000362446:K303N;ENSP00000438418:K279N	ENSP00000362446:K303N	K	+	3	2	ZNF79	129246709	0.854000	0.29725	0.516000	0.27786	0.938000	0.57974	-0.018000	0.12568	-1.111000	0.02988	-0.136000	0.14681	AAG		0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		86	418	1	0	2.18481e-45	1	2.67909e-45	86	418					T	130206888	G	T	130206888	3	4	79	1	0	0	0	0	1	0	0	0	18214	962	34	3	927	3	ZNF79	9	130206888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37491	130206888	11006543	10446	20763											
LRSAM1	90678	broad.mit.edu	37	chr9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccttgacgcctcggCcatggtctacccgccgcggg	14	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	184					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(550-552)gCc>gAc		leucine rich repeat and sterile alpha motif containing 1							84	58	67					9																	130230041		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130230041C>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.551C>A	9.37:g.130230041C>A	ENSP00000322937:p.Ala184Asp					LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D	p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			9	1155	+			184					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.551C>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570305	0.13560	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76448	0.7;-1.02;0.7;0.7	5.46	3.43	0.39272	.	0.945370	0.09009	N	0.861813	T	0.70894	0.3276	L	0.36672	1.1	0.31744	N	0.635413	B;B	0.20988	0.05;0.03	B;B	0.29176	0.099;0.022	T	0.65553	-0.6140	10	0.25751	T	0.34	-1.6772	11.3735	0.49713	0.0:0.6447:0.3553:0.0	.	184;184	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	184	ENSP00000300417:A184D;ENSP00000362421:A184D;ENSP00000322937:A184D;ENSP00000362419:A184D	ENSP00000300417:A184D	A	+	2	0	LRSAM1	129269862	0.940000	0.31905	0.781000	0.31783	0.142000	0.21351	1.837000	0.39201	1.252000	0.44001	0.561000	0.74099	GCC		0.582	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		26	66	1	0	3.00307e-07	1	3.1154e-07	26	66					A	130230041	C	A	130230041	3	1	79	1	0	0	0	0	1	0	0	0	9081	739	26	3	581	3	LRSAM1	9	130230041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	130230041	10983390	10447	20764											
LRSAM1	90678	broad.mit.edu	37	chr9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctgtgttgcagagcgCgatgcagaaggctgcgttcg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	451					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTGCAGAGCGCGATGCAGAAG	0.607																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1351-1353)gCg>gTg		leucine rich repeat and sterile alpha motif containing 1							53	44	47					9																	130251727		2203	4299	6502	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130251727C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1352C>T	9.37:g.130251727C>T	ENSP00000322937:p.Ala451Val					LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V	p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			18	1956	+			451					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1352C>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114392	0.06881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.75704	1.46;-0.96;1.46;1.46	5.62	2.17	0.27698	.	0.420350	0.26761	N	0.022630	T	0.53690	0.1812	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38607	-0.9653	10	0.30854	T	0.27	-0.1491	7.8298	0.29336	0.3344:0.5757:0.0:0.0899	.	451;451	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	451	ENSP00000300417:A451V;ENSP00000362421:A451V;ENSP00000322937:A451V;ENSP00000362419:A451V	ENSP00000300417:A451V	A	+	2	0	LRSAM1	129291548	0.921000	0.31238	0.033000	0.17914	0.218000	0.24690	2.470000	0.45119	0.641000	0.30601	0.555000	0.69702	GCG		0.607	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		10	55	0	0	0	1	0	10	55					T	130251727	C	T	130251727	3	4	79	1	0	0	0	0	1	0	0	0	9081	768	27	1	1418	1	LRSAM1	9	130251727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21686	130251727	10961704	10448	20765											
LRSAM1	90678	broad.mit.edu	37	chr9	130251746	130251746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatgcagaaggctgcgttCgaggcactccaggtgaagaa	15	9	0	3	rs571925919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	457					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F457F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612																																						ENST00000323301.4																			1	Substitution - coding silent(1)	p.F457F(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1369-1371)ttC>ttT		leucine rich repeat and sterile alpha motif containing 1							60	49	53					9																	130251746		2203	4299	6502	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130251746C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1371C>T	9.37:g.130251746C>T						LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000300417.6_Silent_p.F457F	p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			18	1975	+			457					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.1371C>T	CCDS6873.1																																																																																				0.612	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		12	69	0	0	0	1	0	12	69					T	130251746	C	T	130251746	2	4	79	1	0	0	0	0	0	0	0	1	9081	883	31	1		1	LRSAM1	9	130251746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	130251746	10961685	10449	20766											
FAM129B	64855	broad.mit.edu	37	chr9	130269379	130269379	+	Silent	SNP	C	C	T													gctggtggggggctctcaggCcgcagaccttgggccagcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379C>T	ENST00000373312.3	-	14	2199	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Silent_p.R649R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTCTCAGGCCGCAGACCTT	0.726																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1984-1986)cgG>cgA		family with sequence similarity 129, member B							9	9	9					9																	130269379		2167	4237	6404	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130269379C>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.1986G>A	9.37:g.130269379C>T						FAM129B_ENST00000373314.3_Silent_p.R649R	p.R662R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2199	-			662					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1986G>A	CCDS35145.1																																																																																				0.726	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	59	0	0	0	1	0	9	59					T	130269379	C	T	130269379	2	4	79	1	0	0	0	0	0	0	0	1	5458	726	26	2		2	FAM129B	9	130269379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17633	130269379	10944052	10450	20767	129	2									
FAM129B	64855	broad.mit.edu	37	chr9	130269380	130269380	+	Missense_Mutation	SNP	C	C	T													ctggtggggggctctcaggcCgcagaccttgggccagcagg					rs374739971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269380C>T	ENST00000373312.3	-	14	2198	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCTCAGGCCGCAGACCTTG	0.731																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1984-1986)cGg>cAg		family with sequence similarity 129, member B		C	GLN/ARG,GLN/ARG	0,4336		0,0,2168	9	9	9		1946,1985	-4.3	0.8	9		9	1,8481		0,1,4240	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	43,43	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	649/734,662/747	130269380	1,12817	2168	4241	6409	SO:0001583	missense	64855						protein binding	g.chr9:130269380C>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.1985G>A	9.37:g.130269380C>T	ENSP00000362409:p.Arg662Gln					FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	p.R662Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2198	-			662					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1985G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.602993	0.13939	0.0	1.18E-4	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.21543	2.0;2.0	5.28	-4.33	0.03677	.	0.904000	0.09700	N	0.767083	T	0.08492	0.0211	N	0.12182	0.205	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42464	-0.9450	10	0.11794	T	0.64	-16.1494	7.4804	0.27402	0.0:0.2635:0.127:0.6095	.	649;662	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	Q	649;312;662	ENSP00000362411:R649Q;ENSP00000362409:R662Q	ENSP00000362409:R662Q	R	-	2	0	FAM129B	129309201	0.000000	0.05858	0.840000	0.33206	0.442000	0.32017	-3.297000	0.00522	-0.511000	0.06514	0.561000	0.74099	CGG		0.731	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	60	0	0	0	1	0	9	60					T	130269380	C	T	130269380	3	4	79	1	0	0	0	0	1	0	0	0	5458	652	23	1	259	1	FAM129B	9	130269380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	130269380	10944051	10451	20768	129	2									
FAM129B	64855	broad.mit.edu	37	chr9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggctagcctcaaaggGcagccccacctcctcatcct	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	634					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1900-1902)Ccc>Tcc		family with sequence similarity 129, member B							29	26	27					9																	130269465		2201	4299	6500	SO:0001583	missense	64855						protein binding	g.chr9:130269465G>A	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.1900C>T	9.37:g.130269465G>A	ENSP00000362409:p.Pro634Ser					FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S|FAM129B_ENST00000468379.1_5'UTR	p.P634S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2113	-			634					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1900C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237203	0.39498	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24538	1.85;1.85	5.25	3.38	0.38709	.	0.053669	0.85682	N	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.40266	D	0.978236	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12016	-1.0564	10	0.40728	T	0.16	-27.8978	4.6178	0.12435	0.1807:0.0:0.644:0.1753	.	621;634	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	621;284;634	ENSP00000362411:P621S;ENSP00000362409:P634S	ENSP00000362409:P634S	P	-	1	0	FAM129B	129309286	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.216000	0.58540	1.344000	0.45657	-0.291000	0.09656	CCC		0.687	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		23	111	0	0	0	1	0	23	111					A	130269465	G	A	130269465	3	1	79	1	0	0	0	0	1	0	0	0	5458	1203	42	2	344	2	FAM129B	9	130269465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	130269465	10943966	10452	20769											
FAM129B	64855	broad.mit.edu	37	chr9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgacttgcaggtaggggCcagcttcttgagcaggaacg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	509					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1525-1527)Gcc>Acc		family with sequence similarity 129, member B							63	67	65					9																	130270389		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270389C>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.1525G>A	9.37:g.130270389C>T	ENSP00000362409:p.Ala509Thr					FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T|FAM129B_ENST00000468379.1_Intron	p.A509T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1738	-			509					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1525G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092529	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26660	1.72;1.72	4.93	4.93	0.64822	.	0.353689	0.32134	N	0.006534	T	0.34019	0.0883	M	0.71036	2.16	0.45567	D	0.998511	D;P;P	0.53462	0.96;0.921;0.921	B;P;P	0.44772	0.384;0.46;0.46	T	0.21381	-1.0247	10	0.42905	T	0.14	-32.6963	15.6228	0.76820	0.0:1.0:0.0:0.0	.	159;496;509	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	T	496;159;509	ENSP00000362411:A496T;ENSP00000362409:A509T	ENSP00000362409:A509T	A	-	1	0	FAM129B	129310210	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.837000	0.27558	2.266000	0.75297	0.561000	0.74099	GCC		0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		75	424	0	0	0	1	0	75	424					T	130270389	C	T	130270389	3	4	79	1	0	0	0	0	1	0	0	0	5458	739	26	2	727	2	FAM129B	9	130270389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	924	130270389	10943042	10453	20770											
FAM129B	64855	broad.mit.edu	37	chr9	130270429	130270429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctgatctgcagcagCgcctcccggaagaacctctt	12	13	2	2	rs570624473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	495					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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.001					ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1483-1485)gcG>gcA		family with sequence similarity 129, member B							61	65	64					9																	130270429		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130270429C>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.1485G>A	9.37:g.130270429C>T						FAM129B_ENST00000373314.3_Silent_p.A482A|FAM129B_ENST00000468379.1_Intron	p.A495A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1698	-			495					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1485G>A	CCDS35145.1																																																																																				0.617	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		60	372	0	0	0	1	0	60	372					T	130270429	C	T	130270429	2	4	79	1	0	0	0	0	0	0	0	1	5458	755	27	1		1	FAM129B	9	130270429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	130270429	10943002	10454	20771											
STXBP1	6812	broad.mit.edu	37	chr9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctattccttggactctgCtgactctttccaaagcttct	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373299.1	+	7	564	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A150V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	150					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGGACTCTGCTGACTCTTTC	0.478																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(448-450)gCt>gTt		syntaxin binding protein 1							93	95	94					9																	130425503		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130425503C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.449C>T	9.37:g.130425503C>T	ENSP00000362396:p.Ala150Val					STXBP1_ENST00000373299.1_Missense_Mutation_p.A150V	p.A150V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			7	588	+			150					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.449C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038450	0.75617	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.80480	-1.38;-1.38	5.64	5.64	0.86602	.	0.046500	0.85682	D	0.000000	T	0.67468	0.2896	N	0.08118	0	0.51233	D	0.999913	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.64381	-0.6421	10	0.66056	D	0.02	-0.806	17.2139	0.86937	0.0:1.0:0.0:0.0	.	150;150	P61764;P61764-2	STXB1_HUMAN;.	V	104;150;150	ENSP00000362399:A150V;ENSP00000362396:A150V	ENSP00000362396:A150V	A	+	2	0	STXBP1	129465324	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.598000	0.82745	2.661000	0.90470	0.561000	0.74099	GCT		0.478	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		27	687	0	0	0	1	0	27	687					T	130425503	C	T	130425503	3	4	79	1	0	0	0	0	1	0	0	0	15404	797	28	2	475	2	STXBP1	9	130425503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155074	130425503	10787928	10455	20772											
STXBP1	6812	broad.mit.edu	37	chr9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccctgaaggagtaccCggctgtgcggtatcgggggt	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373299.1	+	7	675	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373302.3_Missense_Mutation_p.P187L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(559-561)cCg>cTg		syntaxin binding protein 1							78	74	76					9																	130425614		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130425614C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.560C>T	9.37:g.130425614C>T	ENSP00000362396:p.Pro187Leu					STXBP1_ENST00000373299.1_Missense_Mutation_p.P187L	p.P187L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			7	699	+			187					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.560C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	31	5.105039	0.94245	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	2.0289	17.2139	0.86937	0.0:1.0:0.0:0.0	.	187;187	P61764;P61764-2	STXB1_HUMAN;.	L	141;187;187	ENSP00000362399:P187L;ENSP00000362396:P187L	ENSP00000362396:P187L	P	+	2	0	STXBP1	129465435	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.661000	0.83786	2.661000	0.90470	0.561000	0.74099	CCG		0.612	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		105	440	0	0	0	1	0	105	440					T	130425614	C	T	130425614	3	4	79	1	0	0	0	0	1	0	0	0	15404	652	23	1	586	1	STXBP1	9	130425614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	130425614	10787817	10456	20773											
STXBP1	6812	broad.mit.edu	37	chr9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggcatcggggaggcaCgggtgaaggaggtgctcctg	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373299.1	+	10	938	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R275W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(823-825)Cgg>Tgg		syntaxin binding protein 1							98	85	90					9																	130430387		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130430387C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.823C>T	9.37:g.130430387C>T	ENSP00000362396:p.Arg275Trp					STXBP1_ENST00000373299.1_Missense_Mutation_p.R275W	p.R275W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			10	962	+			275					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.823C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897959	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.95	4.09	0.47781	.	0.051872	0.85682	N	0.000000	D	0.88284	0.6395	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.663	D	0.89115	0.3499	10	0.72032	D	0.01	-24.1287	13.7543	0.62926	0.2788:0.7212:0.0:0.0	.	275;275	P61764;P61764-2	STXB1_HUMAN;.	W	229;275;107;275	ENSP00000362399:R275W;ENSP00000362396:R275W	ENSP00000362396:R275W	R	+	1	2	STXBP1	129470208	0.889000	0.30405	0.703000	0.30354	0.505000	0.33919	1.803000	0.38863	0.834000	0.34852	0.491000	0.48974	CGG		0.592	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		41	217	0	0	0	1	0	41	217					T	130430387	C	T	130430387	3	4	79	1	0	0	0	0	1	0	0	0	15404	527	19	1	861	1	STXBP1	9	130430387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4773	130430387	10783044	10457	20774											
C9orf117	286207	broad.mit.edu	37	chr9	130474155	130474155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggacaccaaggaggcCgaggagctgcgcctcctgct	14	14	0	0	rs191601743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	ENST00000373295.2	+	5	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	304										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAAGGAGGCCGAGGAGCTGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18821	0.0		0.0	False		,,,				2504	0.0					ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(910-912)gcC>gcT		chromosome 9 open reading frame 117							16	20	18					9																	130474155		2159	4260	6419	SO:0001819	synonymous_variant	286207							g.chr9:130474155C>T	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.912C>T	9.37:g.130474155C>T							p.A304A	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			5	952	+			304					A5D8T9	Silent	SNP	ENST00000373295.2	37	c.912C>T	CCDS43878.1																																																																																				0.642	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		12	37	0	0	0	1	0	12	37					T	130474155	C	T	130474155	2	4	79	1	0	0	0	0	0	0	0	1	2458	639	23	1		1	C9orf117	9	130474155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43768	130474155	10739276	10458	20775											
TTC16	158248	broad.mit.edu	37	chr9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatctgtgatgtaaaaCcaaaggtcacagggttaaca	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	50										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(148-150)Cca>Aca		tetratricopeptide repeat domain 16							125	109	114					9																	130479252		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479252C>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.148C>A	9.37:g.130479252C>A	ENSP00000362386:p.Pro50Thr					PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Intron	p.P50T	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			2	228	+			50					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.148C>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880479	0.33255	.	.	ENSG00000167094	ENST00000373289	T	0.16324	2.35	3.8	1.89	0.25635	.	0.956369	0.08540	N	0.930685	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.922	T	0.19712	-1.0297	10	0.35671	T	0.21	-0.42	5.2921	0.15733	0.0:0.6748:0.2087:0.1165	.	50;50	B4DZ42;Q8NEE8	.;TTC16_HUMAN	T	50	ENSP00000362386:P50T	ENSP00000362386:P50T	P	+	1	0	TTC16	129519073	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.491000	0.22419	0.384000	0.24942	-0.502000	0.04539	CCA		0.532	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		54	211	1	0	3.31993e-32	1	3.91856e-32	54	211					A	130479252	C	A	130479252	3	1	79	1	0	0	0	0	1	0	0	0	16737	507	18	3	154	3	TTC16	9	130479252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5097	130479252	10734179	10459	20776											
TTC16	158248	broad.mit.edu	37	chr9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggcgcgccaagatgCggggatcctggctgtgcagg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	258										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(772-774)gCg>gTg		tetratricopeptide repeat domain 16							62	58	59					9																	130485513		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130485513C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.773C>T	9.37:g.130485513C>T	ENSP00000362386:p.Ala258Val					TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V	p.A258V	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			7	853	+			258					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.773C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787800	0.49997	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.64991	2.18;-0.13	4.99	4.99	0.66335	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.76328	2.33	0.20975	N	0.999814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70313	-0.4906	10	0.72032	D	0.01	-27.8116	13.6986	0.62595	0.0:1.0:0.0:0.0	.	245;210;258	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	V	258;82;203	ENSP00000362386:A258V;ENSP00000377349:A82V	ENSP00000319048:A203V	A	+	2	0	TTC16	129525334	0.957000	0.32711	0.133000	0.22050	0.022000	0.10575	2.502000	0.45398	2.619000	0.88677	0.456000	0.33151	GCG		0.647	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		44	233	0	0	0	1	0	44	233					T	130485513	C	T	130485513	3	4	79	1	0	0	0	0	1	0	0	0	16737	768	27	1	799	1	TTC16	9	130485513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6261	130485513	10727918	10460	20777											
SH2D3C	10044	broad.mit.edu	37	chr9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggacagcaggttccaGcttgtgggacagggcagtga	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	851	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGGTTCCAGCTTGTGGGAC	0.637																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2551-2553)Ctg>Atg		SH2 domain containing 3C							66	53	58					9																	130501057		2202	4300	6502	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130501057G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2551C>A	9.37:g.130501057G>T	ENSP00000317817:p.Leu851Met					SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	p.L851M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			12	2664	-			851			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2551C>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119480	0.77323	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.36520	2.13;2.15;1.83;2.14;1.25;2.02	5.76	2.77	0.32553	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.065135	0.64402	D	0.000005	T	0.45478	0.1344	M	0.79926	2.475	0.58432	D	0.999996	P;P;P;B;P	0.46142	0.554;0.873;0.81;0.301;0.856	B;P;B;B;P	0.48141	0.262;0.549;0.187;0.243;0.568	T	0.46789	-0.9166	10	0.72032	D	0.01	-15.1161	7.9297	0.29895	0.1462:0.133:0.7208:0.0	.	691;851;783;694;693	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	694;693;783;691;497;851	ENSP00000362374:L694M;ENSP00000388536:L693M;ENSP00000362373:L783M;ENSP00000362371:L691M;ENSP00000394632:L497M;ENSP00000317817:L851M	ENSP00000317817:L851M	L	-	1	2	SH2D3C	129540878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.820000	0.62671	0.772000	0.33382	0.655000	0.94253	CTG		0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		12	45	1	0	7.93312e-07	1	8.20014e-07	12	45					T	130501057	G	T	130501057	3	4	79	1	0	0	0	0	1	0	0	0	14284	962	34	3	35	3	SH2D3C	9	130501057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15544	130501057	10712374	10461	20778											
SH2D3C	10044	broad.mit.edu	37	chr9	130511771	130511771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtcaaagctctcctgCtcaaacaggtactggatgtg	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000373274.3_Silent_p.E126E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	286	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTCCTGCTCAAACAGGT	0.592																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(856-858)gaG>gaA		SH2 domain containing 3C							104	88	93					9																	130511771		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511771C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.858G>A	9.37:g.130511771C>T						SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.E126E	p.E286E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	971	-			286			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.858G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045880	0.19748	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	4.58	0.56647	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	-0.3882	14.6077	0.68493	0.0:0.9177:0.0:0.0823	.	.	.	.	N	123	.	.	S	-	2	0	SH2D3C	129551592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	2.686000	0.91538	0.561000	0.74099	AGC		0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		37	154	0	0	0	1	0	37	154					T	130511771	C	T	130511771	2	4	79	1	0	0	0	0	0	0	0	1	14284	796	28	2		2	SH2D3C	9	130511771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10714	130511771	10701660	10462	20779											
SH2D3C	10044	broad.mit.edu	37	chr9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggcataggctgggggaCtcttgggcaccgtcaccatg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I	SH2D3C_ENST00000373277.4_5'Flank|SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	63					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTGGGGGACTCTTGGGCAC	0.582																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(187-189)aGt>aTt		SH2 domain containing 3C							54	51	52					9																	130536596		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536596C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.188G>T	9.37:g.130536596C>A	ENSP00000317817:p.Ser63Ile						p.S63I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			2	301	-			63					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.188G>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389461	0.82902	.	.	ENSG00000095370	ENST00000314830	T	0.15487	2.42	5.08	5.08	0.68730	.	0.083709	0.51477	D	0.000084	T	0.32346	0.0826	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.01884	-1.1254	10	0.87932	D	0	-0.9201	15.5724	0.76349	0.0:1.0:0.0:0.0	.	63	Q8N5H7	SH2D3_HUMAN	I	63	ENSP00000317817:S63I	ENSP00000317817:S63I	S	-	2	0	SH2D3C	129576417	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.910000	0.63321	2.546000	0.85860	0.561000	0.74099	AGT		0.582	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		12	280	1	0	7.03913e-09	1	7.37812e-09	12	280					A	130536596	C	A	130536596	3	1	79	1	0	0	0	0	1	0	0	0	14284	565	20	3	2571	3	SH2D3C	9	130536596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24825	130536596	10676835	10463	20780											
CDK9	1025	broad.mit.edu	37	chr9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggaccctgcccagCgcatcgacagcgatgacgcc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373264.4	+	7	1007	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617																																						ENST00000373265.2																			1	Substitution - Missense(1)	p.R303C(1)	endometrium(1)	lung(1)	1						c.(1258-1260)Cgc>Tgc		cyclin-dependent kinase 9							161	96	118					9																	130551610		2203	4300	6503	SO:0001583	missense	1025				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr9:130551610C>T	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"Cyclin-dependent kinases"	1780	protein-coding gene	gene with protein product		603251	"cyclin-dependent kinase 9 (CDC2-related kinase)"	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.907C>T	9.37:g.130551610C>T	ENSP00000362361:p.Arg303Cys					CDK9_ENST00000373264.4_Missense_Mutation_p.R303C	p.R420C			P50750	CDK9_HUMAN			7	1258	+			303					Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	37	c.1258C>T	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127329	0.77549	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.74947	-0.89;-0.89	5.52	4.61	0.57282	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	0.91226	0.7235	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92468	0.5983	10	0.87932	D	0	-8.2494	8.841	0.35142	0.1461:0.7767:0.0:0.0772	.	303	P50750	CDK9_HUMAN	C	420;303	ENSP00000362362:R420C;ENSP00000362361:R303C	ENSP00000362361:R303C	R	+	1	0	CDK9	129591431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.550000	0.45811	2.587000	0.87381	0.591000	0.81541	CGC		0.617	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1			86	264	0	0	0	1	0	86	264					T	130551610	C	T	130551610	3	4	79	1	0	0	0	0	1	0	0	0	3160	768	27	1	933	1	CDK9	9	130551610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15014	130551610	10661821	10464	20781											
FPGS	2356	broad.mit.edu	37	chr9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaccccacacctgcagtGccagctccctcgtcttcagc	6	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373247.2	+	15	1584	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.A462T|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	512					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CACCTGCAGTGCCAGCTCCCT	0.657																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1384-1386)Gcc>Acc		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						71	68	69					9																	130575653		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575653G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1534G>A	9.37:g.130575653G>A	ENSP00000362344:p.Ala512Thr					FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.A512T	p.A462T	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1593	+			512					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1384G>A	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756282	0.03019	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14266	2.95;2.93;2.52	5.03	-10.1	0.00402	Mur ligase, C-terminal (1);	0.753644	0.12795	N	0.438561	T	0.02571	0.0078	N	0.02158	-0.66	0.34854	D	0.741919	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34601	-0.9822	10	0.02654	T	1	-4.7795	7.9863	0.30213	0.1846:0.0:0.4419:0.3735	.	486;512	Q05932-4;Q05932	.;FOLC_HUMAN	T	512;486;462	ENSP00000362344:A512T;ENSP00000377309:A486T;ENSP00000362322:A462T	ENSP00000362322:A462T	A	+	1	0	FPGS	129615474	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-1.085000	0.03390	-1.977000	0.00994	-0.266000	0.10368	GCC		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			105	433	0	0	0	1	0	105	433					A	130575653	G	A	130575653	3	1	79	1	0	0	0	0	1	0	0	0	6063	1319	46	2	1592	2	FPGS	9	130575653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24043	130575653	10637778	10465	20782											
FPGS	2356	broad.mit.edu	37	chr9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccatgtgctagtcaCtggcagcctgcacctggtgg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373247.2	+	15	1753	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.T518I|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	568					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTGCTAGTCACTGGCAGCCTG	0.647																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1552-1554)aCt>aTt		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						48	46	47					9																	130575822		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575822C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1703C>T	9.37:g.130575822C>T	ENSP00000362344:p.Thr568Ile					FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.T568I	p.T518I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1762	+			568					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1553C>T	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939028	0.92526	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.23147	2.22;2.21;1.92	5.33	5.33	0.75918	Mur ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77101	-0.2712	10	0.87932	D	0	-15.9135	17.9954	0.89182	0.0:1.0:0.0:0.0	.	542;568	Q05932-4;Q05932	.;FOLC_HUMAN	I	568;542;518	ENSP00000362344:T568I;ENSP00000377309:T542I;ENSP00000362322:T518I	ENSP00000362322:T518I	T	+	2	0	FPGS	129615643	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.355000	0.79434	2.481000	0.83766	0.655000	0.94253	ACT		0.647	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			60	276	0	0	0	1	0	60	276					T	130575822	C	T	130575822	3	4	79	1	0	0	0	0	1	0	0	0	6063	565	20	2	1761	2	FPGS	9	130575822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	130575822	10637609	10466	20783											
ENG	2022	broad.mit.edu	37	chr9	130581937	130581937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacaggatattgaccacCgcctgcggggataaagccag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000373203.4	-	10	1675	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_Intron|ENG_ENST00000344849.3_Silent_p.A425A|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	425	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1273-1275)gcG>gcA		endoglin							36	36	36					9																	130581937		2201	4300	6501	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130581937C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1275G>A	9.37:g.130581937C>T						RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_Intron|ENG_ENST00000373203.4_Silent_p.A425A	p.A425A			P17813	EGLN_HUMAN			10	1555	-			425			Ser/Thr-rich.		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.1275G>A	CCDS48029.1																																																																																				0.607	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			24	60	0	0	0	1	0	24	60					T	130581937	C	T	130581937	2	4	79	1	0	0	0	0	0	0	0	1	5135	639	23	1		1	ENG	9	130581937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6115	130581937	10631494	10467	20784											
ENG	2022	broad.mit.edu	37	chr9	130587516	130587516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgcacaactcacccagatCtgcatgttgtggttggcgtc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000373203.4	-	6	1210	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000344849.3_Silent_p.Q270Q|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	270	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(808-810)caG>caA		endoglin							79	59	65					9																	130587516		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130587516C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.810G>A	9.37:g.130587516C>T						ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.Q270Q	p.Q270Q			P17813	EGLN_HUMAN			6	1090	-			270					Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.810G>A	CCDS48029.1																																																																																				0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			31	162	0	0	0	1	0	31	162					T	130587516	C	T	130587516	2	4	79	1	0	0	0	0	0	0	0	1	5135	912	32	2		2	ENG	9	130587516	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579	130587516	10625915	10468	20785											
AK1	203	broad.mit.edu	37	chr9	130635041	130635041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagcctgagctgacctcGgaccgcaggaggtccccggt	15	15	0	2	rs202106101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16814	0.0		0.001	False		,,,				2504	0.0					ENST00000373176.1																			0				endometrium(1)|prostate(1)	2						c.(133-135)tcC>tcT		adenylate kinase 1		G		0,4406		0,0,2203	69	60	63		135	-6.5	0.9	9		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK1	NM_000476.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		45/195	130635041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130635041G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.135C>T	9.37:g.130635041G>A						RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.S61S|AK1_ENST00000373156.1_Silent_p.S45S	p.S45S	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN			4	287	-			45						Silent	SNP	ENST00000373176.1	37	c.135C>T	CCDS6881.1																																																																																				0.637	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			44	198	0	0	0	1	0	44	198					A	130635041	G	A	130635041	2	1	79	1	0	0	0	0	0	0	0	1	439	1103	39	1		1	AK1	9	130635041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47525	130635041	10578390	10469	20786											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggtgcatcattcatgCggattgtacactcagcccgc	12	11	3	0	rs200500949		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373146.1	-	5	580	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	134					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(400-402)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							96	85	89					9																	130653219		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653219C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.401G>A	9.37:g.130653219C>T	ENSP00000362239:p.Arg134His					ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H	p.R134H			Q969X2	SIA7F_HUMAN			5	580	-			134					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.401G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.455743	0.84209	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.71	4.81	0.61882	.	0.049182	0.85682	D	0.000000	D	0.85557	0.5724	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89003	0.3423	10	0.87932	D	0	-20.5999	13.3597	0.60648	0.0:0.9233:0.0:0.0767	.	100;134	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	134;100;134;100;134;100	ENSP00000362239:R134H;ENSP00000362234:R100H;ENSP00000362235:R134H;ENSP00000362237:R100H;ENSP00000291839:R134H;ENSP00000405326:R100H	ENSP00000291839:R134H	R	-	2	0	ST6GALNAC6	129693040	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.371000	0.79600	1.424000	0.47217	0.651000	0.88453	CGC		0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		22	237	0	0	0	1	0	22	237					T	130653219	C	T	130653219	3	4	79	1	0	0	0	0	1	0	0	0	15280	768	27	1	612	1	ST6GALNAC6	9	130653219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18178	130653219	10560212	10470	20787											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatagccgtcagtgatgctCcacttcttgaggttgacagg	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373146.1	-	4	437	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	86					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(256-258)tgG>tgA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							110	104	106					9																	130656830		2203	4300	6503	SO:0001587	stop_gained	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130656830C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.258G>A	9.37:g.130656830C>T	ENSP00000362239:p.Trp86*					ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*	p.W86*			Q969X2	SIA7F_HUMAN			4	437	-			86					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	ENST00000373146.1	37	c.258G>A	CCDS6882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412320|5.412320	0.96072|0.96072	.|.	.|.	ENSG00000160408|ENSG00000160408	ENST00000542456|ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T|.	0.47177|.	0.85|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.117745	.|0.64402	.|D	.|0.000007	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.34597|0.34597	D|D	0.716131|0.716131	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.43065|.	-0.9414|.	8|.	0.45353|0.07175	T|T	0.12|0.84	-12.0278|-12.0278	16.0654|16.0654	0.80867|0.80867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22|.	B4DU80|.	.|.	E|X	22|86;52;86;52;86;52	ENSP00000438109:G22E|.	ENSP00000438109:G22E|ENSP00000291839:W86X	G|W	-|-	2|3	0|0	ST6GALNAC6|ST6GALNAC6	129696651|129696651	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.833000|0.833000	0.47200|0.47200	4.981000|4.981000	0.63819|0.63819	2.390000|2.390000	0.81377|0.81377	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.592	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		96	500	0	0	0	1	0	96	500					T	130656830	C	T	130656830	4	4	79	1	0	0	0	0	0	1	0	0	15280	856	30	2	759	2	ST6GALNAC6	9	130656830	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3611	130656830	10556601	10471	20788											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggcgcctggttcatgCggaacacgcactcggcactg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(304-306)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							44	40	41					9																	130674853		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674853C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.305G>A	9.37:g.130674853C>T	ENSP00000336733:p.Arg102His					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	p.R102H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	580	-			102					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.305G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC		0.677	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		52	223	0	0	0	1	0	52	223					T	130674853	C	T	130674853	3	4	79	1	0	0	0	0	1	0	0	0	15278	768	27	1	615	1	ST6GALNAC4	9	130674853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18023	130674853	10538578	10472	20789											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatccagttccatctggCggaggaaccagctccgctgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	263	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637																																						ENST00000388747.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						c.(787-789)cGc>cAc		phosphatidylinositol-4-phosphate 5-kinase-like 1							63	60	61					9																	130687515		2203	4300	6503	SO:0001583	missense	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130687515C>T	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.788G>A	9.37:g.130687515C>T	ENSP00000373399:p.Arg263His					PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H|PIP5KL1_ENST00000490773.1_5'UTR	p.R263H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN			9	832	-			263			PIPK.		Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	c.788G>A	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887242	0.52014	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.31769	1.48;1.48	4.95	2.1	0.27182	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.190282	0.44688	N	0.000436	T	0.29061	0.0722	M	0.71036	2.16	0.40546	D	0.981077	B	0.18741	0.03	B	0.19946	0.027	T	0.08659	-1.0711	10	0.51188	T	0.08	-13.9532	5.5359	0.17011	0.1441:0.6667:0.0:0.1892	.	263	Q5T9C9	PI5L1_HUMAN	H	263;60	ENSP00000373399:R263H;ENSP00000300432:R60H	ENSP00000300432:R60H	R	-	2	0	PIP5KL1	129727336	0.708000	0.27876	0.998000	0.56505	0.982000	0.71751	0.489000	0.22387	0.224000	0.20940	0.491000	0.48974	CGC		0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		41	214	0	0	0	1	0	41	214					T	130687515	C	T	130687515	3	4	79	1	0	0	0	0	1	0	0	0	11984	768	27	1	404	1	PIP5KL1	9	130687515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12662	130687515	10525916	10473	20790											
DPM2	8818	broad.mit.edu	37	chr9	130698902	130698902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggctcggggcaggaaataCttgtggatgacatgctgact	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130698902C>T	ENST00000314392.8	-	3	789	c.126G>A	c.(124-126)aaG>aaA	p.K42K	RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	42					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						GCAGGAAATACTTGTGGATGA	0.587																																						ENST00000314392.8																			0				lung(1)	1						c.(124-126)aaG>aaA		dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit							194	141	159					9																	130698902		2203	4300	6503	SO:0001819	synonymous_variant	8818				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding	g.chr9:130698902C>T	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.126G>A	9.37:g.130698902C>T						RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K	p.K42K	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN			3	789	-			42					Q5XKK9|Q6FGH3	Silent	SNP	ENST00000314392.8	37	c.126G>A	CCDS6886.1																																																																																				0.587	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	NM_003863		9	414	0	0	0	1	0	9	414					T	130698902	C	T	130698902	2	4	79	1	0	0	0	0	0	0	0	1	4741	564	20	2		2	DPM2	9	130698902	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11387	130698902	10514529	10474	20791											
FAM102A	399665	broad.mit.edu	37	chr9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccagcacggctcaccctCggtgttgctgccatctgtga	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(1036-1038)Gag>Aag		family with sequence similarity 102, member A							75	54	61					9																	130707059		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130707059C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.1036G>A	9.37:g.130707059C>T	ENSP00000362187:p.Glu346Lys					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K	p.E346K	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			9	1411	-			346					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.1036G>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054004	0.93793	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.097969	0.64402	D	0.000001	T	0.70859	0.3272	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72304	-0.4333	10	0.62326	D	0.03	.	18.7228	0.91702	0.0:1.0:0.0:0.0	.	346	Q5T9C2	F102A_HUMAN	K	346;204	ENSP00000362187:E346K;ENSP00000362176:E204K	ENSP00000362176:E204K	E	-	1	0	FAM102A	129746880	1.000000	0.71417	0.979000	0.43373	0.381000	0.30169	7.523000	0.81856	2.764000	0.94973	0.563000	0.77884	GAG		0.662	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			26	141	0	0	0	1	0	26	141					T	130707059	C	T	130707059	3	4	79	1	0	0	0	0	1	0	0	0	5403	893	31	1	130	1	FAM102A	9	130707059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8157	130707059	10506372	10475	20792											
NAIF1	203245	broad.mit.edu	37	chr9	130828911	130828911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgcggtggccgagGgtccgagggccacagggtgg	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130828911G>A	ENST00000373078.4	-	1	689	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	157					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTGGCCGAGGGTCCGAGGGC	0.652																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(469-471)cCc>cTc		nuclear apoptosis inducing factor 1							35	35	35					9																	130828911		2202	4300	6502	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130828911G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.470C>T	9.37:g.130828911G>A	ENSP00000362170:p.Pro157Leu						p.P157L	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	689	-			157					B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.470C>T	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043163	0.36085	.	.	ENSG00000171169	ENST00000373078	.	.	.	4.05	4.05	0.47172	.	0.416727	0.25566	N	0.029795	T	0.35508	0.0934	N	0.03608	-0.345	0.46131	D	0.998881	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	9	0.38643	T	0.18	-8.1042	16.4788	0.84152	0.0:0.0:1.0:0.0	.	157	Q69YI7	NAIF1_HUMAN	L	157	.	ENSP00000362170:P157L	P	-	2	0	NAIF1	129868732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.430000	0.90283	2.557000	0.86248	0.561000	0.74099	CCC		0.652	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		12	342	0	0	0	1	0	12	342					A	130828911	G	A	130828911	3	1	79	1	0	0	0	0	1	0	0	0	10187	1232	43	2	521	2	NAIF1	9	130828911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121852	130828911	10384520	10476	20793											
NAIF1	203245	broad.mit.edu	37	chr9	130829260	130829260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcactcttggcggccaGgggtaccccggcgttgaagt	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829260G>T	ENST00000373078.4	-	1	340	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	41	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGCGGCCAGGGGTACCCCG	0.607																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(121-123)Ctg>Atg		nuclear apoptosis inducing factor 1							76	80	78					9																	130829260		2202	4300	6502	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829260G>T	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.121C>A	9.37:g.130829260G>T	ENSP00000362170:p.Leu41Met						p.L41M	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	340	-			41			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.121C>A	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292874	0.60086	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	4.32	0.51571	.	0.070506	0.64402	D	0.000020	T	0.52386	0.1731	N	0.22421	0.69	0.42160	D	0.991592	D	0.65815	0.995	D	0.63192	0.912	T	0.50915	-0.8771	9	0.37606	T	0.19	-6.7284	9.237	0.37473	0.1641:0.0:0.8359:0.0	.	41	Q69YI7	NAIF1_HUMAN	M	41	.	ENSP00000362170:L41M	L	-	1	2	NAIF1	129869081	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	5.213000	0.65230	1.207000	0.43291	-0.253000	0.11424	CTG		0.607	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		41	822	1	0	5.43694e-19	1	6.05247e-19	41	822					T	130829260	G	T	130829260	3	4	79	1	0	0	0	0	1	0	0	0	10187	991	35	3	870	3	NAIF1	9	130829260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349	130829260	10384171	10477	20794											
NAIF1	203245	broad.mit.edu	37	chr9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtaccccggcgttgAagtggttcaccagcaggtgc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	35	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(103-105)tTc>tCc		nuclear apoptosis inducing factor 1							95	96	96					9																	130829277		2203	4300	6503	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829277A>G	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.104T>C	9.37:g.130829277A>G	ENSP00000362170:p.Phe35Ser						p.F35S	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	323	-			35			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.104T>C	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520958	0.85495	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.70385	-0.4886	9	0.22706	T	0.39	-9.5899	14.2657	0.66116	1.0:0.0:0.0:0.0	.	35	Q69YI7	NAIF1_HUMAN	S	35	.	ENSP00000362170:F35S	F	-	2	0	NAIF1	129869098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.622000	0.90953	1.972000	0.57404	0.460000	0.39030	TTC		0.627	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		151	838	0	0	0	1	0	151	838					G	130829277	A	G	130829277	3	3	79	1	0	0	0	0	1	0	0	0	10187	246	9	4	887	4	NAIF1	9	130829277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	130829277	10384154	10478	20795											
SLC25A25	114789	broad.mit.edu	37	chr9	130865959	130865959	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgccatctttcctcacaGatctttgatgtgggtgagaa	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373064.5	+	5	749		c.e5-1		SLC25A25_ENST00000373069.5_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.e6-1		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							87	83	84					9																	130865959		2203	4300	6503	SO:0001630	splice_region_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130865959G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.487-1G>A	9.37:g.130865959G>A						SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373064.5_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site		NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			6	989	+								Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Splice_Site	SNP	ENST00000373064.5	37		CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418790	0.83559	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A25	129905780	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	.		0.607	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901	Intron	55	280	0	0	0	1	0	55	280					A	130865959	G	A	130865959	5	1	79	1	0	0	0	0	0	0	1	0	14538	956	33	2	992	2	SLC25A25	9	130865959	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36682	130865959	10347472	10479	20796											
CIZ1	25792	broad.mit.edu	37	chr9	130942771	130942771	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtgcgtttttccttggcGatgtcctctgggcagggcgg	17	9	1	0	rs371780195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000393608.1	-	7	916	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000538431.1_Silent_p.I238I	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	238					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCTTGGCGATGTCCTCTG	0.547																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(712-714)atC>atT		CDKN1A interacting zinc finger protein 1		G	,,,,	0,4406		0,0,2203	256	215	229		714,714,699,642,714	0.3	0	9		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	238/843,238/899,233/838,214/819,238/899	130942771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130942771G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.714C>T	9.37:g.130942771G>A						CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.I238I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I	p.I238I	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			7	961	-			238					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.714C>T	CCDS6894.1																																																																																				0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		97	502	0	0	0	1	0	97	502					A	130942771	G	A	130942771	2	1	79	1	0	0	0	0	0	0	0	1	3450	1048	37	1		1	CIZ1	9	130942771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76812	130942771	10270660	10480	20797											
CIZ1	25792	broad.mit.edu	37	chr9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggactggcgagtggcctggGgaaagaactgttgcaaattt	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000393608.1	-	5	657	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(454-456)cCc>cAc		CDKN1A interacting zinc finger protein 1							58	58	58					9																	130947959		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130947959G>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.455C>A	9.37:g.130947959G>T	ENSP00000377232:p.Pro152His					CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H	p.P152H	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			5	702	-			152					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.455C>A	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446937	0.84101	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	D	0.88119	0.6351	L	0.29908	0.895	0.38617	D	0.951046	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.998;1.0;0.999	D;P;D;D;D;P;D;P	0.91635	0.998;0.885;0.999;0.946;0.926;0.875;0.999;0.885	D	0.89937	0.4070	10	0.87932	D	0	-25.5097	15.8799	0.79195	0.0:0.0:1.0:0.0	.	152;152;152;152;128;152;128;152	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	128;152;152;152;128;119;51;152;128;152;152;79;152;152	ENSP00000362045:P128H;ENSP00000377232:P152H;ENSP00000439244:P152H;ENSP00000350169:P152H;ENSP00000320374:P128H;ENSP00000445057:P51H;ENSP00000277465:P152H;ENSP00000362039:P152H;ENSP00000362029:P152H;ENSP00000398011:P79H;ENSP00000321780:P152H;ENSP00000407265:P152H	ENSP00000277465:P152H	P	-	2	0	CIZ1	129987780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.775000	0.95449	0.655000	0.94253	CCC		0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		47	233	1	0	1.41504e-22	1	1.60265e-22	47	233					T	130947959	G	T	130947959	3	4	79	1	0	0	0	0	1	0	0	0	3450	1232	43	3	2293	3	CIZ1	9	130947959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5188	130947959	10265472	10481	20798											
DNM1	1759	broad.mit.edu	37	chr9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctcaggagatcagatcGacacctacgaactgtcaggg	13	10	3	2	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000372923.3	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000341179.7_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	352					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1054-1056)Gac>Aac		dynamin 1		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	92	89	90		1054,1054	6	1	9	dbSNP_134	90	0,8600		0,0,4300	no	missense,missense	DNM1	NM_001005336.1,NM_004408.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	352/852,352/865	130984801	1,13005	2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984801G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1054G>A	9.37:g.130984801G>A	ENSP00000362014:p.Asp352Asn					DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000372923.3_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	p.D352N	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			8	1146	+			352					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1054G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028944	0.93518	2.27E-4	0.0	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.954;0.996	P;B;P	0.57009	0.767;0.441;0.811	T	0.65784	-0.6084	10	0.21540	T	0.41	-6.6582	20.5596	0.99324	0.0:0.0:1.0:0.0	.	352;352;352	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	352;352;352;347;352;352	ENSP00000419225:D352N;ENSP00000345680:D352N;ENSP00000362014:D352N;ENSP00000377219:D352N;ENSP00000420045:D352N	ENSP00000345680:D352N	D	+	1	0	DNM1	130024622	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GAC		0.602	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		70	403	0	0	0	1	0	70	403					A	130984801	G	A	130984801	3	1	79	1	0	0	0	0	1	0	0	0	4686	1058	37	1	1084	1	DNM1	9	130984801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36842	130984801	10228630	10482	20799											
DNM1	1759	broad.mit.edu	37	chr9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtggagaagggctttaTgtcgagcaagcatatctttg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000372923.3	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000341179.7_Missense_Mutation_p.M580T|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1738-1740)aTg>aCg		dynamin 1							210	152	172					9																	131008740		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008740T>C	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1739T>C	9.37:g.131008740T>C	ENSP00000362014:p.Met580Thr					DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000372923.3_Missense_Mutation_p.M580T|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T	p.M580T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1831	+			580			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1739T>C	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344371	0.61073	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.732920	0.02792	N	0.122157	D	0.84790	0.5550	M	0.89214	3.015	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.35073	0.195;0.123	T	0.67397	-0.5681	10	0.49607	T	0.09	-9.659	14.3359	0.66589	0.0:0.0:0.0:1.0	.	580;580	Q05193;Q05193-3	DYN1_HUMAN;.	T	580;580;580;575;580;580;125	ENSP00000419225:M580T;ENSP00000345680:M580T;ENSP00000362014:M580T;ENSP00000377219:M580T;ENSP00000420045:M580T	ENSP00000345680:M580T	M	+	2	0	DNM1	130048561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	1.972000	0.57404	0.408000	0.27601	ATG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		68	266	0	0	0	1	0	68	266					C	131008740	T	C	131008740	3	2	79	1	0	0	0	0	1	0	0	0	4686	1464	51	4	1796	4	DNM1	9	131008740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23939	131008740	10204691	10483	20800											
GOLGA2	2801	broad.mit.edu	37	chr9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgactcaagccctcattgtCttgcacctgggcttgaagct	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682																																						ENST00000421699.2																			1	Substitution - Missense(1)	p.D477N(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1465-1467)Gac>Tac		golgin A2							39	44	42					9																	131022956		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022956C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1465G>T	9.37:g.131022956C>A	ENSP00000416097:p.Asp489Tyr						p.D489Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1477	-			489					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1465G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225784	0.79576	.	.	ENSG00000167110	ENST00000421699	T	0.32272	1.46	5.3	4.41	0.53225	.	0.097640	0.64402	D	0.000002	T	0.52677	0.1749	M	0.66506	2.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.56469	-0.7974	10	0.72032	D	0.01	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	Y	489	ENSP00000416097:D489Y	ENSP00000416097:D489Y	D	-	1	0	GOLGA2	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC		0.682	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		113	429	1	0	1.22879e-52	1	1.5289e-52	113	429					A	131022956	C	A	131022956	3	1	79	1	0	0	0	0	1	0	0	0	6581	913	32	3	1583	3	GOLGA2	9	131022956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14216	131022956	10190475	10484	20801											
C9orf119	375757	broad.mit.edu	37	chr9	131038624	131038624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgactcccgcgctggAccctcttgcgccattgaacc	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131038624A>C	ENST00000320188.5	+	1	200	c.200A>C	c.(199-201)gAc>gCc	p.D67A	SWI5_ENST00000418976.1_Missense_Mutation_p.D2A|SWI5_ENST00000419867.2_Missense_Mutation_p.D2A|SWI5_ENST00000608796.1_Missense_Mutation_p.D2A|GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000495313.1_Intron	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	67					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CCCGCGCTGGACCCTCTTGCG	0.657																																						ENST00000320188.4																			0											c.(199-201)gAc>gCc		SWI5 recombination repair homolog (yeast)							13	16	15					9																	131038624		1896	4109	6005	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038624A>C	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.200A>C	9.37:g.131038624A>C	ENSP00000316609:p.Asp67Ala						p.D67A	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN			1	200	+			67					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.200A>C	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687257	0.48097	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.89	3.76	0.43208	.	0.360146	0.22153	N	0.063882	T	0.39036	0.1063	L	0.29908	0.895	0.30954	N	0.724454	D	0.64830	0.994	P	0.54312	0.748	T	0.36311	-0.9753	9	0.36615	T	0.2	.	6.9791	0.24694	0.8979:0.0:0.1021:0.0	.	67	Q1ZZU3	SWI5_HUMAN	A	67	.	ENSP00000316609:D67A	D	+	2	0	SWI5	130078445	0.930000	0.31532	0.963000	0.40424	0.022000	0.10575	1.885000	0.39678	0.906000	0.36621	0.491000	0.48974	GAC		0.657	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		24	103	0	0	0	1	0	24	103					C	131038624	A	C	131038624	3	2	79	1	0	0	0	0	1	0	0	0	2459	275	10	4	202	4	C9orf119	9	131038624	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15668	131038624	10174807	10485	20802											
SLC27A4	10999	broad.mit.edu	37	chr9	131107479	131107479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaaggtgcgacagtgCctgcaggagcggcggacagt	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	69					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(205-207)tgC>tgT		solute carrier family 27 (fatty acid transporter), member 4							76	49	58					9																	131107479		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107479C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.207C>T	9.37:g.131107479C>T						SLC27A4_ENST00000372870.1_Intron	p.C69C	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	324	+			69					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.207C>T	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			33	207	0	0	0	1	0	33	207					T	131107479	C	T	131107479	2	4	79	1	0	0	0	0	0	0	0	1	14578	747	26	2		2	SLC27A4	9	131107479	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68855	131107479	10105952	10486	20803											
SLC27A4	10999	broad.mit.edu	37	chr9	131107824	131107824	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctttggcagcgaaatggcCtcaggtgagccccaaggggg	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	184					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(550-552)gcC>gcA		solute carrier family 27 (fatty acid transporter), member 4							13	16	15					9																	131107824		2197	4282	6479	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107824C>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.552C>A	9.37:g.131107824C>A						SLC27A4_ENST00000372870.1_Intron	p.A184A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	669	+			184					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.552C>A	CCDS6899.1																																																																																				0.642	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			15	69	1	0	3.27435e-08	1	3.41456e-08	15	69					A	131107824	C	A	131107824	2	1	79	1	0	0	0	0	0	0	0	1	14578	668	24	3		3	SLC27A4	9	131107824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345	131107824	10105607	10487	20804											
SLC27A4	10999	broad.mit.edu	37	chr9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgaggtccatgccaGcctggacccctcgctcagcc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	193					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(577-579)aGc>aAc		solute carrier family 27 (fatty acid transporter), member 4							65	69	68					9																	131110845		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131110845G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.578G>A	9.37:g.131110845G>A	ENSP00000300456:p.Ser193Asn					SLC27A4_ENST00000372870.1_Intron	p.S193N	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			4	695	+			193					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.578G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045492	0.36085	.	.	ENSG00000167114	ENST00000300456	T	0.42131	0.98	5.54	-0.0676	0.13759	AMP-dependent synthetase/ligase (1);	0.545020	0.21401	N	0.075159	T	0.26666	0.0652	L	0.47190	1.495	0.41841	D	0.990121	B	0.06786	0.001	B	0.10450	0.005	T	0.07673	-1.0760	10	0.27785	T	0.31	-22.4619	1.3239	0.02121	0.306:0.223:0.3486:0.1224	.	193	Q6P1M0	S27A4_HUMAN	N	193	ENSP00000300456:S193N	ENSP00000300456:S193N	S	+	2	0	SLC27A4	130150666	0.476000	0.25901	0.556000	0.28293	0.974000	0.67602	0.320000	0.19540	-0.005000	0.14395	-0.367000	0.07326	AGC		0.647	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			86	359	0	0	0	1	0	86	359					A	131110845	G	A	131110845	3	1	79	1	0	0	0	0	1	0	0	0	14578	971	34	2	588	2	SLC27A4	9	131110845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3021	131110845	10102586	10488	20805											
CERCAM	51148	broad.mit.edu	37	chr9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggacgccgagtggctcaGtgacacggagacatcctctc	14	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372838.4	+	12	2038	c.1640G>A	c.(1639-1641)aGt>aAt	p.S547N	CERCAM_ENST00000372842.1_Missense_Mutation_p.S469N	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	547					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1405-1407)aGt>aAt		cerebral endothelial cell adhesion molecule							31	27	29					9																	131198036		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131198036G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1640G>A	9.37:g.131198036G>A	ENSP00000361929:p.Ser547Asn					CERCAM_ENST00000372838.4_Missense_Mutation_p.S547N	p.S469N			Q5T4B2	GT253_HUMAN			13	4550	+			547					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1406G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	34	5.337214	0.95758	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.85013	-1.85;-1.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94160	0.7413	10	0.87932	D	0	-6.5656	16.9993	0.86377	0.0:0.0:1.0:0.0	.	547	Q5T4B2	GT253_HUMAN	N	469;547;500	ENSP00000361933:S469N;ENSP00000361929:S547N	ENSP00000361929:S547N	S	+	2	0	CERCAM	130237857	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.664000	0.98607	2.340000	0.79590	0.561000	0.74099	AGT		0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		25	120	0	0	0	1	0	25	120					A	131198036	G	A	131198036	3	1	79	1	0	0	0	0	1	0	0	0	3275	1029	36	2	1686	2	CERCAM	9	131198036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87191	131198036	10015395	10489	20806											
ODF2	4957	broad.mit.edu	37	chr9	131222946	131222946	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcgaccagcagccagGtaggagcatgccagtggggc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	ENST00000434106.3	+	4	486				ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000393527.3_Splice_Site|ODF2_ENST00000372814.3_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCAGCCAGGTAGGAGCATG	0.557																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.e5+1		outer dense fiber of sperm tails 2							87	68	74					9																	131222946		2203	4300	6503	SO:0001627	intron_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131222946G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-275G>A	9.37:g.131222946G>A						ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000434106.2_Intron|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000372791.3_Intron		NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			5	693	+								B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	ENST00000434106.3	37		CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750841	0.69533	.	.	ENSG00000136811	ENST00000351030;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.39	0.90479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF2	130262767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.290000	0.72712	2.759000	0.94783	0.561000	0.74099	.		0.557	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			47	157	0	0	0	1	0	47	157					A	131222946	G	A	131222946	1	1	79	0	1	0	0	0	0	0	0	0	10869	1275	44	2		2	ODF2	9	131222946	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24910	131222946	9990485	10490	20807											
ODF2	4957	broad.mit.edu	37	chr9	131243904	131243904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcactgctgaaacggCtggcggaggccgactcagag	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000372814.3_Silent_p.L341L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	297					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGAAACGGCTGGCGGAGGC	0.483																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(817-819)Ctg>Ttg		outer dense fiber of sperm tails 2							94	89	91					9																	131243904		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131243904C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.889C>T	9.37:g.131243904C>T						ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000372796.4_Silent_p.L297L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000434106.2_Silent_p.L297L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000372791.3_Silent_p.L278L	p.L273L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			11	1402	+			297					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.817C>T	CCDS56588.1																																																																																				0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			31	200	0	0	0	1	0	31	200					T	131243904	C	T	131243904	2	4	79	1	0	0	0	0	0	0	0	1	10869	796	28	2		2	ODF2	9	131243904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20958	131243904	9969527	10491	20808											
ODF2	4957	broad.mit.edu	37	chr9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgaagaactatgaggGgatgattgacaactataaga	11	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	541					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTATGAGGGGATGATTGAC	0.587																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1549-1551)gGg>gAg		outer dense fiber of sperm tails 2							82	81	81					9																	131254790		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131254790G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1622G>A	9.37:g.131254790G>A	ENSP00000403453:p.Gly541Glu					ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000372796.4_Missense_Mutation_p.G541E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000434106.2_Missense_Mutation_p.G541E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E	p.G517E	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			17	2135	+			541					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1550G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274820	0.59649	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.80653	1.07;-1.4;1.07;1.07;1.98;-1.4;1.07;1.07	6.07	6.07	0.98685	.	0.088091	0.85682	D	0.000000	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.016;0.222;0.028;0.139;0.222;0.035;0.028	B;B;B;B;B;B;B;B	0.20955	0.031;0.015;0.031;0.015;0.031;0.031;0.032;0.015	T	0.64037	-0.6501	10	0.18710	T	0.47	-33.0468	13.0706	0.59059	0.0756:0.0:0.9244:0.0	.	522;536;460;475;541;522;541;517	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	E	541;585;536;541;517;460;522;522	ENSP00000377166:G541E;ENSP00000361901:G585E;ENSP00000342581:G536E;ENSP00000361882:G541E;ENSP00000307781:G517E;ENSP00000396687:G460E;ENSP00000437579:G522E;ENSP00000361877:G522E	ENSP00000307781:G517E	G	+	2	0	ODF2	130294611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.884000	0.98904	0.655000	0.94253	GGG		0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			36	184	0	0	0	1	0	36	184					A	131254790	G	A	131254790	3	1	79	1	0	0	0	0	1	0	0	0	10869	1232	43	2	1731	2	ODF2	9	131254790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10886	131254790	9958641	10492	20809											
ODF2	4957	broad.mit.edu	37	chr9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccgctcccgatctcctcCtgcctgaggccacttatcag	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	828					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGATCTCCTCCTGCCTGAGGC	0.552																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2410-2412)cCt>cAt		outer dense fiber of sperm tails 2							134	116	122					9																	131262527		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131262527C>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2483C>A	9.37:g.131262527C>A	ENSP00000403453:p.Pro828His					ODF2_ENST00000372796.4_Missense_Mutation_p.P828H|ODF2_ENST00000434106.2_Missense_Mutation_p.P828H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H	p.P804H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			23	2996	+			828					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2411C>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863291	0.91511	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.32515	1.58;1.45;1.57	5.5	4.6	0.57074	.	0.484236	0.19596	N	0.110515	T	0.31734	0.0806	N	0.14661	0.345	0.80722	D	1	P;D;P;B	0.69078	0.743;0.997;0.743;0.444	B;P;B;B	0.57548	0.432;0.823;0.432;0.432	T	0.16217	-1.0410	10	0.87932	D	0	-10.0449	11.2733	0.49153	0.0:0.9148:0.0:0.0852	.	823;173;828;804	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	823;828;804	ENSP00000342581:P823H;ENSP00000361882:P828H;ENSP00000307781:P804H	ENSP00000307781:P804H	P	+	2	0	ODF2	130302348	0.941000	0.31946	0.490000	0.27465	0.702000	0.40608	1.728000	0.38105	1.314000	0.45095	0.561000	0.74099	CCT		0.552	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			80	524	1	0	2.05912e-35	1	2.45818e-35	80	524					A	131262527	C	A	131262527	3	1	79	1	0	0	0	0	1	0	0	0	10869	681	24	3	2679	3	ODF2	9	131262527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7737	131262527	9950904	10493	20810											
GLE1	2733	broad.mit.edu	37	chr9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagtcccagcacacagaatCtatggtacttcagtcctcac	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	117					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(349-351)tCt>tAt		GLE1 RNA export mediator							64	55	58					9																	131277836		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131277836C>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.350C>A	9.37:g.131277836C>A	ENSP00000308622:p.Ser117Tyr					GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	p.S117Y	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			3	456	+			117					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.350C>A	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482319	0.44147	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66280	-0.2;0.21	5.29	3.03	0.35002	.	0.591936	0.18162	N	0.149753	T	0.39759	0.1090	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.24882	0.028;0.113	B;B	0.23574	0.021;0.047	T	0.18398	-1.0338	10	0.34782	T	0.22	-0.0107	6.0264	0.19658	0.0:0.6634:0.1937:0.1429	.	117;117	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	Y	117	ENSP00000308622:S117Y;ENSP00000361856:S117Y	ENSP00000308622:S117Y	S	+	2	0	GLE1	130317657	0.000000	0.05858	0.002000	0.10522	0.735000	0.41995	0.530000	0.23036	1.198000	0.43158	0.462000	0.41574	TCT		0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		24	124	1	0	2.79863e-10	1	2.965e-10	24	124					A	131277836	C	A	131277836	3	1	79	1	0	0	0	0	1	0	0	0	6464	913	32	3	360	3	GLE1	9	131277836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15309	131277836	9935595	10494	20811											
GLE1	2733	broad.mit.edu	37	chr9	131298700	131298700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttctaaaacgcatgtcAgggatgatccgtctctacgc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Silent_p.S317S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	571					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AACGCATGTCAGGGATGATCC	0.468																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1711-1713)tcA>tcG		GLE1 RNA export mediator							127	103	111					9																	131298700		2203	4300	6503	SO:0001819	synonymous_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131298700A>G	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1713A>G	9.37:g.131298700A>G						GLE1_ENST00000539582.1_Silent_p.S317S|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Silent_p.S571S	p.S571S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			12	1819	+			571					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	37	c.1713A>G	CCDS35154.1																																																																																				0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		10	269	0	0	0	1	0	10	269					G	131298700	A	G	131298700	2	3	79	1	0	0	0	0	0	0	0	1	6464	175	7	4		4	GLE1	9	131298700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20864	131298700	9914731	10495	20812											
SPTAN1	6709	broad.mit.edu	37	chr9	131329137	131329137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccttaggcgtcagaagCtggaagattcctatcgattc	9	11	1	2	rs374578900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000372731.4	+	2	228	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000372739.3_Silent_p.L40L|SPTAN1_ENST00000358161.5_Silent_p.L40L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	40					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGTCAGAAGCTGGAAGATTC	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(118-120)Ctg>Ttg		spectrin, alpha, non-erythrocytic 1		C	,,	0,4406		0,0,2203	99	99	99		118,118,118	1.6	1	9		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	40/2478,40/2453,40/2473	131329137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131329137C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.118C>T	9.37:g.131329137C>T						SPTAN1_ENST00000372731.4_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L	p.L40L			Q13813	SPTA2_HUMAN			2	231	+			40					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.118C>T	CCDS6905.1																																																																																				0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		10	501	0	0	0	1	0	10	501					T	131329137	C	T	131329137	2	4	79	1	0	0	0	0	0	0	0	1	15169	796	28	2		2	SPTAN1	9	131329137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30437	131329137	9884294	10496	20813											
SPTAN1	6709	broad.mit.edu	37	chr9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtctgatggttcacaccGtggccacctttaattccatc	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372731.4	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M|SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1202					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(3604-3606)Gtg>Atg		spectrin, alpha, non-erythrocytic 1							295	258	271					9																	131365846		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131365846G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3604G>A	9.37:g.131365846G>A	ENSP00000361816:p.Val1202Met					SPTAN1_ENST00000372731.4_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M	p.V1202M			Q13813	SPTA2_HUMAN			28	3717	+			1202					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3604G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680519	0.68042	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.65	5.83	5.83	0.93111	.	0.113273	0.64402	D	0.000009	T	0.36690	0.0976	N	0.08118	0	0.51767	D	0.999939	P;P;P;P	0.49696	0.898;0.927;0.927;0.88	B;P;P;B	0.44359	0.143;0.447;0.447;0.26	T	0.38802	-0.9644	10	0.52906	T	0.07	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1202;1182;1202;1202	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	M	1202;1202;1202;1182	ENSP00000350882:V1202M;ENSP00000361816:V1202M;ENSP00000361824:V1202M	ENSP00000350882:V1202M	V	+	1	0	SPTAN1	130405667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.790000	0.75115	2.758000	0.94735	0.563000	0.77884	GTG		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		126	607	0	0	0	1	0	126	607					A	131365846	G	A	131365846	3	1	79	1	0	0	0	0	1	0	0	0	15169	1145	40	1	3710	1	SPTAN1	9	131365846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36709	131365846	9847585	10497	20814											
SPTAN1	6709	broad.mit.edu	37	chr9	131369983	131369983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctggagcgacaccagGtgggtggacctgcctgctga	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372731.4	+	32	4256		c.e32+1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e32+1		spectrin, alpha, non-erythrocytic 1							117	110	112					9																	131369983		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131369983G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4146+1G>A	9.37:g.131369983G>A						SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site				Q13813	SPTA2_HUMAN			32	4259	+								Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37		CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382121	0.82792	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130409804	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.186000	0.94906	2.732000	0.93576	0.655000	0.94253	.		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	24	580	0	0	0	1	0	24	580					A	131369983	G	A	131369983	5	1	79	1	0	0	0	0	0	0	1	0	15169	1275	44	2	4269	2	SPTAN1	9	131369983	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4137	131369983	9843448	10498	20815											
WDR34	89891	broad.mit.edu	37	chr9	131396214	131396214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtttgcttgatcaaaaCtgtgggtttctgggagcttt	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131396214C>A	ENST00000372715.2	-	9	1480	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	474						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTGATCAAAACTGTGGGTTTC	0.517																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1420-1422)Gtt>Ttt		WD repeat domain 34							48	49	49					9																	131396214		2195	4283	6478	SO:0001583	missense	89891					cytoplasm		g.chr9:131396214C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1420G>T	9.37:g.131396214C>A	ENSP00000361800:p.Val474Phe						p.V474F	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			9	1480	-			474					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1420G>T	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725911	0.48833	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.42	2.62	0.31277	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.240373	0.42053	D	0.000761	T	0.39860	0.1094	M	0.72479	2.2	0.09310	N	1	B	0.34313	0.448	P	0.46389	0.515	T	0.36672	-0.9738	10	0.62326	D	0.03	-6.2037	5.8772	0.18836	0.0:0.638:0.1376:0.2244	.	474	Q96EX3	WDR34_HUMAN	F	474	ENSP00000361800:V474F	ENSP00000361800:V474F	V	-	1	0	WDR34	130436035	0.926000	0.31397	0.002000	0.10522	0.810000	0.45777	2.322000	0.43814	0.284000	0.22305	-0.291000	0.09656	GTT		0.517	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		10	385	1	0	0.0692343	1	0.0693721	10	385					A	131396214	C	A	131396214	3	1	79	1	0	0	0	0	1	0	0	0	17342	565	20	3	194	3	WDR34	9	131396214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26231	131396214	9817217	10499	20816											
WDR34	89891	broad.mit.edu	37	chr9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcatccgcgtgagggCtgcctctccagctgccaggg	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	370						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1108-1110)Gcc>Acc		WD repeat domain 34							23	28	27					9																	131397074		2202	4299	6501	SO:0001583	missense	89891					cytoplasm		g.chr9:131397074C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1108G>A	9.37:g.131397074C>T	ENSP00000361800:p.Ala370Thr					WDR34_ENST00000483181.1_5'UTR	p.A370T	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			7	1168	-			370					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1108G>A	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059582	0.36373	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051625	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74258	2.255	0.58432	D	0.999999	B	0.28998	0.23	B	0.24394	0.053	T	0.27365	-1.0076	10	0.49607	T	0.09	-3.501	17.8239	0.88658	0.0:1.0:0.0:0.0	.	370	Q96EX3	WDR34_HUMAN	T	370	ENSP00000361800:A370T	ENSP00000361800:A370T	A	-	1	0	WDR34	130436895	1.000000	0.71417	0.417000	0.26559	0.179000	0.23085	5.565000	0.67365	2.448000	0.82819	0.561000	0.74099	GCC		0.652	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		7	108	0	0	0	1	0	7	108					T	131397074	C	T	131397074	3	4	79	1	0	0	0	0	1	0	0	0	17342	797	28	2	514	2	WDR34	9	131397074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	860	131397074	9816357	10500	20817											
WDR34	89891	broad.mit.edu	37	chr9	131397201	131397201	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtctccccgcggggatgCtgtggagaaatggcagcagc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34							axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.e7-1		WD repeat domain 34							20	24	22					9																	131397201		2203	4299	6502	SO:0001630	splice_region_variant	89891					cytoplasm		g.chr9:131397201C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.982-1G>T	9.37:g.131397201C>A			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_Splice_Site		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			7	1042	-								Q5VXV4|Q9BV46	Splice_Site	SNP	ENST00000372715.2	37		CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520168	0.27211	.	.	ENSG00000119333	ENST00000372715	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR34	130437022	1.000000	0.71417	0.969000	0.41365	0.017000	0.09413	4.909000	0.63314	2.448000	0.82819	0.561000	0.74099	.		0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	Intron	31	130	1	0	2.61193e-14	1	2.83483e-14	31	130					A	131397201	C	A	131397201	5	1	79	1	0	0	0	0	0	0	1	0	17342	811	28	3	641	3	WDR34	9	131397201	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	131397201	9816230	10501	20818											
SET	6418	broad.mit.edu	37	chr9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattaaatcaggttacagaAtagattttgtaagtatctct	6	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000372692.4	+	4	650	c.409A>C	c.(409-411)Ata>Cta	p.I137L	SET_ENST00000477806.1_3'UTR|SET_ENST00000322030.8_Missense_Mutation_p.I124L|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000409104.3_Missense_Mutation_p.I115L	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	137	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363			T	NUP214	AML																																	ENST00000322030.8				Dom	yes		9	9q34	6418	T	SET translocation			L	NUP214		AML		0				endometrium(2)|kidney(1)|lung(2)	5						c.(370-372)Ata>Cta		SET nuclear oncogene							76	78	77					9																	131455036		2203	4300	6503	SO:0001583	missense	6418				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr9:131455036A>C	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.409A>C	9.37:g.131455036A>C	ENSP00000361777:p.Ile137Leu					SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000372692.4_Missense_Mutation_p.I137L|SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.I113L	p.I124L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN		GBM - Glioblastoma multiforme(294;3.1e-09)	4	727	+		Myeloproliferative disorder(178;0.204)	137					A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	ENST00000372692.4	37	c.370A>C	CCDS48037.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935384	0.92458	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.39514	1.22	0.80722	D	1	B;P;P	0.44195	0.391;0.478;0.828	B;B;P	0.48524	0.432;0.273;0.58	T	0.01068	-1.1462	10	0.87932	D	0	.	14.3996	0.67034	1.0:0.0:0.0:0.0	.	113;124;137	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	L	137;115;124;113;112	ENSP00000361777:I137L;ENSP00000387321:I115L;ENSP00000318012:I124L;ENSP00000361773:I113L;ENSP00000361771:I112L	ENSP00000318012:I124L	I	+	1	0	SET	130494857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	1.995000	0.58328	0.454000	0.30748	ATA		0.363	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	NM_001122821		31	185	0	0	0	1	0	31	185					C	131455036	A	C	131455036	3	2	79	1	0	0	0	0	1	0	0	0	14178	101	4	4	500	4	SET	9	131455036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57835	131455036	9758395	10502	20819											
PKN3	29941	broad.mit.edu	37	chr9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggggtggagaacctgCggcgcgtggccacagaccgc	19	11	0	2	rs560359660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	41					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15748	0.0		0.0	False		,,,				2504	0.001					ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(121-123)Cgg>Tgg		protein kinase N3							11	10	11					9																	131467678		2165	4248	6413	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131467678C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.121C>T	9.37:g.131467678C>T	ENSP00000291906:p.Arg41Trp						p.R41W	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			2	514	+			41					Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.121C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116549	0.77323	.	.	ENSG00000160447	ENST00000291906	T	0.19806	2.12	5.18	3.27	0.37495	.	.	.	.	.	T	0.44180	0.1281	M	0.76170	2.325	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.42599	-0.9442	9	0.87932	D	0	.	13.0802	0.59109	0.293:0.707:0.0:0.0	.	41;41	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	W	41	ENSP00000291906:R41W	ENSP00000291906:R41W	R	+	1	2	PKN3	130507499	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	1.467000	0.35321	0.531000	0.28639	0.655000	0.94253	CGG		0.682	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		12	59	0	0	0	1	0	12	59					T	131467678	C	T	131467678	3	4	79	1	0	0	0	0	1	0	0	0	12023	759	27	1	127	1	PKN3	9	131467678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12642	131467678	9745753	10503	20820											
PKN3	29941	broad.mit.edu	37	chr9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaactggcaagccctgCtcgcccgcaccatccagccc	7	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	827	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2479-2481)Ctc>Atc		protein kinase N3							107	108	108					9																	131482694		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482694C>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2479C>A	9.37:g.131482694C>A	ENSP00000291906:p.Leu827Ile						p.L827I	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			22	2872	+			827			AGC-kinase C-terminal.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2479C>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154543	0.57259	.	.	ENSG00000160447	ENST00000291906	T	0.25912	1.77	4.97	4.97	0.65823	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43010	0.1228	L	0.60067	1.865	0.42656	D	0.993462	D	0.69078	0.997	D	0.72625	0.978	T	0.29427	-1.0012	9	0.49607	T	0.09	.	9.3747	0.38275	0.0:0.9017:0.0:0.0983	.	827	Q6P5Z2	PKN3_HUMAN	I	827	ENSP00000291906:L827I	ENSP00000291906:L827I	L	+	1	0	PKN3	130522515	0.997000	0.39634	0.994000	0.49952	0.591000	0.36615	1.211000	0.32382	2.297000	0.77311	0.462000	0.41574	CTC		0.667	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		146	832	1	0	2.67835e-44	1	3.27695e-44	146	832					A	131482694	C	A	131482694	3	1	79	1	0	0	0	0	1	0	0	0	12023	797	28	3	2565	3	PKN3	9	131482694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	131482694	9730737	10504	20821											
ZER1	10444	broad.mit.edu	37	chr9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcagcagagggcagtaCttgtccgctgtgggatagga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	716					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.K716K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000291900.2																			1	Substitution - coding silent(1)	p.K716K(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(2146-2148)aaG>aaT		zyg-11 related, cell cycle regulator							58	48	52					9																	131495800		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131495800C>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2148G>T	9.37:g.131495800C>A	ENSP00000291900:p.Lys716Asn		OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588		p.K716N	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			15	2554	-			716					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.2148G>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954837	0.73902	.	.	ENSG00000160445	ENST00000291900	T	0.65549	-0.16	5.77	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72609	-0.4241	10	0.54805	T	0.06	-44.6261	7.6963	0.28596	0.0:0.6569:0.0:0.3431	.	716	Q7Z7L7	ZER1_HUMAN	N	716	ENSP00000291900:K716N	ENSP00000291900:K716N	K	-	3	2	ZER1	130535621	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	0.395000	0.25257	0.655000	0.94253	AAG		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		22	82	1	0	1.2644e-06	1	1.30616e-06	22	82					A	131495800	C	A	131495800	3	1	79	1	0	0	0	0	1	0	0	0	17678	564	20	3	160	3	ZER1	9	131495800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13106	131495800	9717631	10505	20822											
C9orf114	51490	broad.mit.edu	37	chr9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcctcctcttccaggCgctttgcctgttcctcctgt	7	18	1	0	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	56							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18104	0.001		0.0	False		,,,				2504	0.0					ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(166-168)cGc>cAc		chromosome 9 open reading frame 114							102	105	104					9																	131591055		2203	4300	6503	SO:0001583	missense	51490							g.chr9:131591055C>T		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.167G>A	9.37:g.131591055C>T	ENSP00000354812:p.Arg56His						p.R56H	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			3	207	-			56					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	c.167G>A	CCDS6913.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.756269	0.49362	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23754	1.89	4.69	-4.72	0.03269	.	0.936047	0.09163	N	0.839890	T	0.16769	0.0403	L	0.43152	1.355	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.45353	T	0.12	0.5691	4.5371	0.12038	0.5098:0.1352:0.0:0.355	.	56;56	E7ESY7;Q5T280	.;CI114_HUMAN	H	56	ENSP00000354812:R56H	ENSP00000354812:R56H	R	-	2	0	C9orf114	130630876	0.014000	0.17966	0.699000	0.30290	0.735000	0.41995	-0.488000	0.06497	-0.778000	0.04566	0.561000	0.74099	CGC		0.562	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		125	650	0	0	0	1	0	125	650					T	131591055	C	T	131591055	3	4	79	1	0	0	0	0	1	0	0	0	2456	768	27	1	1003	1	C9orf114	9	131591055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95255	131591055	9622376	10506	20823											
LRRC8A	56262	broad.mit.edu	37	chr9	131669896	131669896	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattcccgcgcaccagctcGaagctggagcactttgtgtc	10	13	0	0	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	151					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(451-453)tcG>tcA		leucine rich repeat containing 8 family, member A		G	,,	1,4405	2.1+/-5.4	0,1,2202	66	65	65		453,453,453	-1.9	1	9	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	151/811,151/811,151/811	131669896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669896G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.453G>A	9.37:g.131669896G>A						LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	976	+			151					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.453G>A	CCDS35155.1																																																																																				0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		39	241	0	0	0	1	0	39	241					A	131669896	G	A	131669896	2	1	79	1	0	0	0	0	0	0	0	1	9059	1045	37	1		1	LRRC8A	9	131669896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78841	131669896	9543535	10507	20824											
DOLK	22845	broad.mit.edu	37	chr9	131708326	131708326	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggtctggggatcagccaGatgggaagagacatgcccag	16	9	2	2	rs138962748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGATCAGCCAGATGGGAAGAG	0.582																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1255-1257)atC>atA		dolichol kinase							90	91	90					9																	131708326		2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708326G>T	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1257C>A	9.37:g.131708326G>T						RP11-101E3.5_ENST00000482796.1_Intron	p.I419I	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1572	-			419					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.1257C>A	CCDS6915.1																																																																																				0.582	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		14	384	1	0	0.000151284	1	0.000153739	14	384					T	131708326	G	T	131708326	2	4	79	1	0	0	0	0	0	0	0	1	4719	932	33	3		3	DOLK	9	131708326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38430	131708326	9505105	10508	20825											
DOLK	22845	broad.mit.edu	37	chr9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggactcggaagatgAccgcttggcattctggtaca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	323					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(967-969)Tca>Cca		dolichol kinase							129	146	141					9																	131708616		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708616A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.967T>C	9.37:g.131708616A>G	ENSP00000361667:p.Ser323Pro					RP11-101E3.5_ENST00000482796.1_Intron	p.S323P	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1282	-			323					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.967T>C	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625767	0.28889	.	.	ENSG00000175283	ENST00000372586	D	0.84660	-1.88	5.34	2.88	0.33553	.	0.407216	0.22669	N	0.057092	T	0.76176	0.3951	N	0.25485	0.75	0.23406	N	0.997742	B	0.25441	0.126	B	0.28709	0.093	T	0.64833	-0.6314	10	0.48119	T	0.1	-1.0358	10.5923	0.45316	0.6909:0.309:0.0:0.0	.	323	Q9UPQ8	DOLK_HUMAN	P	323	ENSP00000361667:S323P	ENSP00000361667:S323P	S	-	1	0	DOLK	130748437	0.999000	0.42202	0.959000	0.39883	0.970000	0.65996	3.698000	0.54771	0.287000	0.22375	0.379000	0.24179	TCA		0.557	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		239	970	0	0	0	1	0	239	970					G	131708616	A	G	131708616	3	3	79	1	0	0	0	0	1	0	0	0	4719	275	10	4	653	4	DOLK	9	131708616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290	131708616	9504815	10509	20826											
DOLK	22845	broad.mit.edu	37	chr9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtagaaggcctgcactGcgagggccacggcgcaccac	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	50					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(148-150)gCa>gTa		dolichol kinase							77	74	75					9																	131709434		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709434G>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.149C>T	9.37:g.131709434G>A	ENSP00000361667:p.Ala50Val					RP11-101E3.5_ENST00000482796.1_Intron	p.A50V	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	464	-			50					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.149C>T	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84070	-1.8	5.64	5.64	0.86602	.	0.169585	0.39544	N	0.001340	D	0.85340	0.5674	L	0.51422	1.61	0.58432	D	0.99999	P	0.49961	0.93	P	0.50440	0.641	D	0.86253	0.1650	10	0.62326	D	0.03	-12.3049	18.7019	0.91623	0.0:0.0:1.0:0.0	.	50	Q9UPQ8	DOLK_HUMAN	V	50	ENSP00000361667:A50V	ENSP00000361667:A50V	A	-	2	0	DOLK	130749255	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.601000	0.82783	2.655000	0.90218	0.462000	0.41574	GCA		0.607	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		75	260	0	0	0	1	0	75	260					A	131709434	G	A	131709434	3	1	79	1	0	0	0	0	1	0	0	0	4719	1319	46	2	1471	2	DOLK	9	131709434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	818	131709434	9503997	10510	20827											
NUP188	23511	broad.mit.edu	37	chr9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcacccagtgacttaCttgtattaaccaagatgttt	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	233					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGACTTACTTGTATTAAC	0.428																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(697-699)Ctt>Ttt		nucleoporin 188kDa							162	150	154					9																	131730896		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131730896C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.697C>T	9.37:g.131730896C>T	ENSP00000361658:p.Leu233Phe						p.L233F	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			9	718	+			233					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.697C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.613707	0.46631	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35048	1.33	5.53	-2.97	0.05530	.	0.193822	0.45867	N	0.000321	T	0.38558	0.1045	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.39035	-0.9633	10	0.33940	T	0.23	-25.4788	11.839	0.52342	0.0:0.5586:0.0:0.4414	.	233	Q5SRE5	NU188_HUMAN	F	122;233	ENSP00000361658:L233F	ENSP00000349125:L122F	L	+	1	0	NUP188	130770717	0.007000	0.16637	0.000000	0.03702	0.644000	0.38419	0.153000	0.16323	-0.855000	0.04125	-0.213000	0.12676	CTT		0.428	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			98	444	0	0	0	1	0	98	444					T	131730896	C	T	131730896	3	4	79	1	0	0	0	0	1	0	0	0	10800	565	20	2	731	2	NUP188	9	131730896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21462	131730896	9482535	10511	20828											
NUP188	23511	broad.mit.edu	37	chr9	131749134	131749134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatactgaacctgtgccaCgagacagacctgcacagcag	11	13	0	3	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGTGCCACGAGACAGACC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19582	0.0		0.0	False		,,,				2504	0.0					ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2242-2244)caC>caT		nucleoporin 188kDa		C		1,4405	2.1+/-5.4	0,1,2202	107	93	98		2244	-8.9	0.7	9	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	NUP188	NM_015354.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		748/1750	131749134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131749134C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2244C>T	9.37:g.131749134C>T							p.H748H	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			22	2265	+			748					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.2244C>T	CCDS35156.1																																																																																				0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			60	267	0	0	0	1	0	60	267					T	131749134	C	T	131749134	2	4	79	1	0	0	0	0	0	0	0	1	10800	535	19	1		1	NUP188	9	131749134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18238	131749134	9464297	10512	20829											
NUP188	23511	broad.mit.edu	37	chr9	131755935	131755935	+	Silent	SNP	G	G	A													tttttgcatgctctgtggcaGgatcggagggacagtgccat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	993					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCTGTGGCAGGATCGGAGGG	0.512																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2977-2979)caG>caA		nucleoporin 188kDa							112	89	97					9																	131755935		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755935G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2979G>A	9.37:g.131755935G>A							p.Q993Q	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			27	3000	+			993					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.2979G>A	CCDS35156.1																																																																																				0.512	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			57	230	0	0	0	1	0	57	230					A	131755935	G	A	131755935	2	1	79	1	0	0	0	0	0	0	0	1	10800	991	35	2		2	NUP188	9	131755935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6801	131755935	9457496	10513	20830	130	2									
NUP188	23511	broad.mit.edu	37	chr9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T													tgcatgctctgtggcaggatCggagggacagtgccatgctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	995				R -> W (in Ref. 5; AAH40352). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGCAGGATCGGAGGGACAG	0.507																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2983-2985)Cgg>Tgg		nucleoporin 188kDa							109	87	94					9																	131755939		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755939C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2983C>T	9.37:g.131755939C>T	ENSP00000361658:p.Arg995Trp						p.R995W	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			27	3004	+			995	R -> W (in Ref. 5; AAH40352).				Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2983C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570353	0.86542	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.62011	-0.6944	10	0.87932	D	0	0.1735	18.8488	0.92218	0.0:1.0:0.0:0.0	.	328;995	E9PET9;Q5SRE5	.;NU188_HUMAN	W	884;995	ENSP00000361658:R995W	ENSP00000349125:R884W	R	+	1	2	NUP188	130795760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.400000	0.66320	2.767000	0.95098	0.655000	0.94253	CGG		0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			52	219	0	0	0	1	0	52	219					T	131755939	C	T	131755939	3	4	79	1	0	0	0	0	1	0	0	0	10800	875	31	1	3089	1	NUP188	9	131755939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	131755939	9457492	10514	20831	130	2									
NUP188	23511	broad.mit.edu	37	chr9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccagacccgccacaGtctggcattaggcagtgcca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3754-3756)aGt>aAt		nucleoporin 188kDa							75	65	68					9																	131761996		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131761996G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3755G>A	9.37:g.131761996G>A	ENSP00000361658:p.Ser1252Asn						p.S1252N	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			34	3776	+			1252					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3755G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197801	0.22037	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.28	5.28	0.74379	.	0.249110	0.46145	D	0.000301	T	0.26955	0.0660	L	0.60455	1.87	0.34919	D	0.748258	P;B	0.34462	0.454;0.244	B;B	0.29663	0.105;0.037	T	0.34229	-0.9837	10	0.23302	T	0.38	-29.9441	11.3822	0.49763	0.0831:0.0:0.9169:0.0	.	585;1252	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1141;1252	ENSP00000361658:S1252N	ENSP00000349125:S1141N	S	+	2	0	NUP188	130801817	1.000000	0.71417	0.977000	0.42913	0.531000	0.34715	2.879000	0.48522	2.473000	0.83533	0.563000	0.77884	AGT		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			35	173	0	0	0	1	0	35	173					A	131761996	G	A	131761996	3	1	79	1	0	0	0	0	1	0	0	0	10800	1029	36	2	3889	2	NUP188	9	131761996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6057	131761996	9451435	10515	20832											
NUP188	23511	broad.mit.edu	37	chr9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtgtgtgtcctggGcctgcacctggccaaggagc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1286					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGTCCTGGGCCTGCACCTG	0.612																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3856-3858)gGc>gAc		nucleoporin 188kDa							62	56	58					9																	131763821		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131763821G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3857G>A	9.37:g.131763821G>A	ENSP00000361658:p.Gly1286Asp						p.G1286D	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			35	3878	+			1286					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3857G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180739	0.78677	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.051262	0.85682	D	0.000000	T	0.69620	0.3131	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.54397	0.966;0.952	P;P	0.49140	0.543;0.601	T	0.74657	-0.3592	10	0.72032	D	0.01	-6.8777	17.8614	0.88783	0.0:0.0:1.0:0.0	.	619;1286	E9PET9;Q5SRE5	.;NU188_HUMAN	D	1175;1286	ENSP00000361658:G1286D	ENSP00000349125:G1175D	G	+	2	0	NUP188	130803642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.473000	0.83533	0.313000	0.20887	GGC		0.612	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			36	246	0	0	0	1	0	36	246					A	131763821	G	A	131763821	3	1	79	1	0	0	0	0	1	0	0	0	10800	1203	42	2	3995	2	NUP188	9	131763821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1825	131763821	9449610	10516	20833											
FAM73B	84895	broad.mit.edu	37	chr9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggacttcatcctcatgGacgccttcgaggacctggag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	440					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1318-1320)Gac>Aac		family with sequence similarity 73, member B							121	102	108					9																	131830525		2203	4300	6503	SO:0001583	missense	84895					integral to membrane		g.chr9:131830525G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1318G>A	9.37:g.131830525G>A	ENSP00000351138:p.Asp440Asn					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.D440N	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			13	1544	+			440					Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.1318G>A	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588139	0.96590	.	.	ENSG00000148343	ENST00000358369	T	0.52295	0.67	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79193	-0.1904	10	0.87932	D	0	-33.4835	17.967	0.89102	0.0:0.0:1.0:0.0	.	504;440	B4DZP8;Q7L4E1	.;FA73B_HUMAN	N	440	ENSP00000351138:D440N	ENSP00000351138:D440N	D	+	1	0	FAM73B	130870346	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	GAC		0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		60	331	0	0	0	1	0	60	331					A	131830525	G	A	131830525	3	1	79	1	0	0	0	0	1	0	0	0	5643	1174	41	2	1364	2	FAM73B	9	131830525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66704	131830525	9382906	10517	20834											
PPP2R4	5524	broad.mit.edu	37	chr9	131909734	131909734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccatccatcctgtcacGtcgggctaggaggggccaag	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131909734G>A	ENST00000337738.1	+	11	1335	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	356					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATCCTGTCACGTCGGGCTAGG	0.637																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1066-1068)acG>acA		protein phosphatase 2A activator, regulatory subunit 4							61	49	53					9																	131909734		2203	4300	6503	SO:0001819	synonymous_variant	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131909734G>A	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1068G>A	9.37:g.131909734G>A						PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000347048.4_Silent_p.T102T	p.T356T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1335	+		Medulloblastoma(224;0.235)	356					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Silent	SNP	ENST00000337738.1	37	c.1068G>A																																																																																					0.637	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		7	240	0	0	0	1	0	7	240					A	131909734	G	A	131909734	2	1	79	1	0	0	0	0	0	0	0	1	12438	1132	40	1		1	PPP2R4	9	131909734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79209	131909734	9303697	10518	20835											
IER5L	389792	broad.mit.edu	37	chr9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttgcgcagggagatgCtgatcaggctctgggcgtcc	16	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	12													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667																																						ENST00000372491.2																			0											c.(34-36)aGc>aTc		immediate early response 5-like							19	23	22					9																	131940297		2164	4285	6449	SO:0001583	missense	389792							g.chr9:131940297C>A	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.35G>T	9.37:g.131940297C>A	ENSP00000361569:p.Ser12Ile					RP11-247A12.2_ENST00000372490.3_RNA	p.S12I	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	243	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	12					Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	37	c.35G>T	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103186	0.56183	.	.	ENSG00000188483	ENST00000372491	T	0.18016	2.24	3.73	1.72	0.24424	.	0.224820	0.36101	U	0.002792	T	0.13286	0.0322	L	0.32530	0.975	0.30159	N	0.802383	P	0.45634	0.863	B	0.43783	0.431	T	0.06844	-1.0804	10	0.87932	D	0	-12.8614	6.8164	0.23833	0.0:0.6869:0.1959:0.1172	.	12	Q5T953	IER5L_HUMAN	I	12	ENSP00000361569:S12I	ENSP00000361569:S12I	S	-	2	0	IER5L	130980118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.473000	0.53122	0.779000	0.33543	0.298000	0.19748	AGC		0.667	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			13	46	1	0	1.05317e-09	1	1.11087e-09	13	46					A	131940297	C	A	131940297	3	1	79	1	0	0	0	0	1	0	0	0	7539	797	28	3	1183	3	IER5L	9	131940297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30563	131940297	9273134	10519	20836											
C9orf50	375759	broad.mit.edu	37	chr9	132375512	132375512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctcagaaaggtagccCtgtgtcttctgggtggacct	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375512C>A	ENST00000372478.4	-	6	1263	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	354										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AAAGGTAGCCCTGTGTCTTCT	0.632																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1060-1062)caG>caT		chromosome 9 open reading frame 50							44	42	43					9																	132375512		2202	4297	6499	SO:0001583	missense	375759							g.chr9:132375512C>A	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1062G>T	9.37:g.132375512C>A	ENSP00000361556:p.Gln354His					NTMT1_ENST00000372486.1_Intron	p.Q354H	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			6	1263	-		Ovarian(14;0.00556)	354					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1062G>T	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751328	0.31046	.	.	ENSG00000179058	ENST00000372478	T	0.28454	1.61	3.3	0.289	0.15723	.	0.541517	0.13928	N	0.353066	T	0.31136	0.0787	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.61533	0.89	T	0.10683	-1.0619	10	0.59425	D	0.04	-6.1819	3.8989	0.09152	0.4242:0.4545:0.0:0.1213	.	354	Q5SZB4	CI050_HUMAN	H	354	ENSP00000361556:Q354H	ENSP00000361556:Q354H	Q	-	3	2	C9orf50	131415333	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.028000	0.13644	0.065000	0.16485	0.442000	0.29010	CAG		0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		47	262	1	0	2.17126e-26	1	2.5019e-26	47	262					A	132375512	C	A	132375512	3	1	79	1	0	0	0	0	1	0	0	0	2494	680	24	3	241	3	C9orf50	9	132375512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435215	132375512	8837919	10520	20837											
C9orf50	375759	broad.mit.edu	37	chr9	132375527	132375527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctgtgtcttctgggtGgacctgggggagacaggacc	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375527G>A	ENST00000372478.4	-	6	1248	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	349										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCTTCTGGGTGGACCTGGGGG	0.632																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1045-1047)tcC>tcT		chromosome 9 open reading frame 50							40	38	39					9																	132375527		2201	4294	6495	SO:0001819	synonymous_variant	375759							g.chr9:132375527G>A	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1047C>T	9.37:g.132375527G>A						NTMT1_ENST00000372486.1_Intron	p.S349S	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			6	1248	-		Ovarian(14;0.00556)	349					Q2M1I2|Q8NA65	Silent	SNP	ENST00000372478.4	37	c.1047C>T	CCDS35159.1																																																																																				0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		52	224	0	0	0	1	0	52	224					A	132375527	G	A	132375527	2	1	79	1	0	0	0	0	0	0	0	1	2494	1335	47	2		2	C9orf50	9	132375527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	132375527	8837904	10521	20838											
METTL11A	28989	broad.mit.edu	37	chr9	132395137	132395137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagtttctgcagaggtTtttgagggtaggcaggtctg	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132395137T>G	ENST00000372486.1	+	2	504	c.155T>G	c.(154-156)tTt>tGt	p.F52C	NTMT1_ENST00000372483.4_Missense_Mutation_p.F52C|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.F52C|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.F52C|NTMT1_ENST00000372481.3_Missense_Mutation_p.F52C			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	52					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CTGCAGAGGTTTTTGAGGGTA	0.567																																						ENST00000372486.1																			0											c.(154-156)tTt>tGt		N-terminal Xaa-Pro-Lys N-methyltransferase 1							119	115	116					9																	132395137		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132395137T>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.155T>G	9.37:g.132395137T>G	ENSP00000361564:p.Phe52Cys					NTMT1_ENST00000372481.3_Missense_Mutation_p.F52C|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.F52C|NTMT1_ENST00000372483.4_Missense_Mutation_p.F52C|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.F52C	p.F52C							2	504	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.155T>G	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462484	0.84425	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60895	-0.7172	10	0.72032	D	0.01	-0.8808	13.8086	0.63248	0.0:0.0:0.0:1.0	.	52;52	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	C	52	ENSP00000361564:F52C;ENSP00000361561:F52C;ENSP00000361559:F52C;ENSP00000361558:F52C	ENSP00000361558:F52C	F	+	2	0	METTL11A	131434958	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.904000	0.87408	1.954000	0.56735	0.459000	0.35465	TTT		0.567	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		127	504	0	0	0	1	0	127	504					G	132395137	T	G	132395137	3	3	79	1	0	0	0	0	1	0	0	0	9536	1841	64	4	157	4	METTL11A	9	132395137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19610	132395137	8818294	10522	20839											
METTL11A	28989	broad.mit.edu	37	chr9	132397705	132397705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggcaggagaacctccccGatgagatctaccatgtctat	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132397705G>A	ENST00000372486.1	+	4	983	c.634G>A	c.(634-636)Gat>Aat	p.D212N	NTMT1_ENST00000372483.4_Missense_Mutation_p.D212N|NTMT1_ENST00000482347.1_Missense_Mutation_p.D124N|NTMT1_ENST00000372480.1_Missense_Mutation_p.D212N|NTMT1_ENST00000372481.3_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	212					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GAACCTCCCCGATGAGATCTA	0.632																																						ENST00000372486.1																			0											c.(634-636)Gat>Aat		N-terminal Xaa-Pro-Lys N-methyltransferase 1							83	82	82					9																	132397705		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397705G>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.634G>A	9.37:g.132397705G>A	ENSP00000361564:p.Asp212Asn					NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000482347.1_Missense_Mutation_p.D124N|NTMT1_ENST00000372480.1_Missense_Mutation_p.D212N|NTMT1_ENST00000372483.4_Missense_Mutation_p.D212N	p.D212N							4	983	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.634G>A	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624656	0.28889	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.22336	1.96;1.96;1.96	5.01	5.01	0.66863	.	0.314836	0.33732	N	0.004606	T	0.19127	0.0459	L	0.40543	1.245	0.42916	D	0.994274	B	0.28783	0.222	B	0.14023	0.01	T	0.02797	-1.1109	10	0.46703	T	0.11	-25.7524	16.8907	0.86086	0.0:0.0:1.0:0.0	.	212	Q9BV86	NTM1A_HUMAN	N	212	ENSP00000361564:D212N;ENSP00000361561:D212N;ENSP00000361558:D212N	ENSP00000361558:D212N	D	+	1	0	METTL11A	131437526	1.000000	0.71417	0.053000	0.19242	0.166000	0.22503	4.104000	0.57790	2.325000	0.78763	0.549000	0.68633	GAT		0.632	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		138	618	0	0	0	1	0	138	618					A	132397705	G	A	132397705	3	1	79	1	0	0	0	0	1	0	0	0	9536	1058	37	1	644	1	METTL11A	9	132397705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	132397705	8815726	10523	20840											
C9orf78	51759	broad.mit.edu	37	chr9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacttctcataatgataGtcatcagttgccttctcgtt	6	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478																																						ENST00000372447.3																			0				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13						c.(826-828)gaC>gaA		chromosome 9 open reading frame 78							222	193	203					9																	132590482		2203	4300	6503	SO:0001583	missense	51759							g.chr9:132590482G>T	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 59"					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.828C>A	9.37:g.132590482G>T	ENSP00000361524:p.Asp276Glu						p.D276E	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN			9	881	-		Ovarian(14;0.00556)	276					B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	37	c.828C>A	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657856	0.67586	.	.	ENSG00000136819	ENST00000372447	T	0.49139	0.79	5.56	-0.113	0.13568	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.78049	2.395	0.58432	D	0.999995	D	0.67145	0.996	P	0.58210	0.835	T	0.53676	-0.8405	10	0.46703	T	0.11	.	6.1692	0.20408	0.362:0.0:0.5116:0.1265	.	276	Q9NZ63	CI078_HUMAN	E	276	ENSP00000361524:D276E	ENSP00000361524:D276E	D	-	3	2	C9orf78	131630303	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.631000	0.46502	0.056000	0.16144	-0.181000	0.13052	GAC		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		90	490	1	0	4.066e-59	1	5.10292e-59	90	490					T	132590482	G	T	132590482	3	4	79	1	0	0	0	0	1	0	0	0	2503	1020	36	3	45	3	C9orf78	9	132590482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192777	132590482	8622949	10524	20841											
USP20	10868	broad.mit.edu	37	chr9	132631614	132631614	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtattgagtgctggcagccgGaggcggaaggagcagcgcta	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132631614G>T	ENST00000315480.4	+	13	1460	c.1302G>T	c.(1300-1302)cgG>cgT	p.R434R	USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	434	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGGCAGCCGGAGGCGGAAGG	0.657																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1300-1302)cgG>cgT		ubiquitin specific peptidase 20							76	87	83					9																	132631614		2103	4229	6332	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631614G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1302G>T	9.37:g.132631614G>T						USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R	p.R434R			Q9Y2K6	UBP20_HUMAN			13	1460	+		Ovarian(14;0.00556)	434					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.1302G>T	CCDS43892.1																																																																																				0.657	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			26	885	1	0	7.92952e-12	1	8.47903e-12	26	885					T	132631614	G	T	132631614	2	4	79	1	0	0	0	0	0	0	0	1	17106	1161	41	3		3	USP20	9	132631614	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41132	132631614	8581817	10525	20842											
USP20	10868	broad.mit.edu	37	chr9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccgagattgccatccGccagagtgtggcgcagccgc	14	15	0	2	rs368318142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	889	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2665-2667)cGc>cAc		ubiquitin specific peptidase 20		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4126		0,0,2063	31	42	38		2666,2666,2666	5.1	1	9		38	1,8401		0,1,4200	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	29,29,29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	889/915,889/915,889/915	132642473	1,12527	2063	4201	6264	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132642473G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2666G>A	9.37:g.132642473G>A	ENSP00000313811:p.Arg889His					USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR	p.R889H			Q9Y2K6	UBP20_HUMAN			25	2824	+		Ovarian(14;0.00556)	889			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2666G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070762	0.76301	0.0	1.19E-4	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52548	-0.8561	10	0.87932	D	0	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	889	Q9Y2K6	UBP20_HUMAN	H	889	ENSP00000361506:R889H;ENSP00000313811:R889H;ENSP00000351122:R889H	ENSP00000313811:R889H	R	+	2	0	USP20	131682294	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	CGC		0.632	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			45	172	0	0	0	1	0	45	172					A	132642473	G	A	132642473	3	1	79	1	0	0	0	0	1	0	0	0	17106	1087	38	1	2756	1	USP20	9	132642473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10859	132642473	8570958	10526	20843											
GPR107	57720	broad.mit.edu	37	chr9	132848734	132848734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttctgttcataataaTggtggggcagtgtcatttca	9	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)aaT>aaC		G protein-coupled receptor 107							200	194	196					9																	132848734		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr9:132848734T>C	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.600T>C	9.37:g.132848734T>C						GPR107_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_Silent_p.N200N	p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			7	1107	+		Ovarian(14;0.000531)	200					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.600T>C	CCDS48041.1																																																																																				0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			87	421	0	0	0	1	0	87	421					C	132848734	T	C	132848734	2	2	79	1	0	0	0	0	0	0	0	1	6652	1461	51	4		4	GPR107	9	132848734	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	206261	132848734	8364697	10527	20844											
FUBP3	8939	broad.mit.edu	37	chr9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggcgactggagcgtgGgagcccctggtggcgtccag	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	349					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(1045-1047)Gga>Aga		far upstream element (FUSE) binding protein 3							50	60	57					9																	133501820		2060	4219	6279	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133501820G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1045G>A	9.37:g.133501820G>A	ENSP00000318177:p.Gly349Arg		OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1603		p.G349R	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	12	1120	+			349					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1045G>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224625	0.79576	.	.	ENSG00000107164	ENST00000319725	T	0.54675	0.56	5.67	5.67	0.87782	.	0.052210	0.85682	D	0.000000	T	0.63105	0.2483	M	0.71206	2.165	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54270	0.747;0.747	T	0.62854	-0.6766	10	0.40728	T	0.16	-16.8512	12.112	0.53844	0.0774:0.0:0.9226:0.0	.	349;349	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	349	ENSP00000318177:G349R	ENSP00000318177:G349R	G	+	1	0	FUBP3	132491641	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	8.055000	0.89453	2.677000	0.91161	0.655000	0.94253	GGA		0.602	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			34	139	0	0	0	1	0	34	139					A	133501820	G	A	133501820	3	1	79	1	0	0	0	0	1	0	0	0	6120	1233	43	2	1091	2	FUBP3	9	133501820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653086	133501820	7711611	10528	20845											
ABL1	25	broad.mit.edu	37	chr9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactcctggtaccatgggCctgtgtcccgcaatgccgct	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	131	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GTACCATGGGCCTGTGTCCCG	0.562			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(391-393)Cct>Tct		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						128	102	111					9																	133730325		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133730325C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.391C>T	9.37:g.133730325C>T	ENSP00000323315:p.Pro131Ser						p.P131S	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	3	772	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	131			SH2.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.391C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157772	0.94686	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.11201	0.11	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.43478	0.421;0.421	D	0.84783	0.0774	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	131;168	P00519;Q59FK4	ABL1_HUMAN;.	S	150;131	ENSP00000361423:P150S;ENSP00000323315:P131S	ENSP00000323315:P131S	P	+	1	0	ABL1	132720146	1.000000	0.71417	0.914000	0.36105	0.984000	0.73092	7.744000	0.85034	2.677000	0.91161	0.638000	0.83543	CCT		0.562	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		16	311	0	0	0	1	0	16	311					T	133730325	C	T	133730325	3	4	79	1	0	0	0	0	1	0	0	0	92	739	26	2	541	2	ABL1	9	133730325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228505	133730325	7483106	10529	20846											
ABL1	25	broad.mit.edu	37	chr9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaccggccctcctttgCtgaaatccaccaagcctttg	7	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCTCCTTTGCTGAAATCCAC	0.532			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1459-1461)gCt>gAt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						114	109	111					9																	133755491		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133755491C>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1460C>A	9.37:g.133755491C>A	ENSP00000323315:p.Ala487Asp						p.A487D	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	9	1841	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	487			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1460C>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400895	0.83120	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.39898	1.24	0.80722	D	1	P;P	0.45672	0.864;0.864	B;B	0.39258	0.295;0.295	T	0.78157	-0.2313	10	0.37606	T	0.19	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	487;524	P00519;Q59FK4	ABL1_HUMAN;.	D	302;506;487	ENSP00000361423:A506D;ENSP00000323315:A487D	ENSP00000323315:A487D	A	+	2	0	ABL1	132745312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.785000	0.95823	0.655000	0.94253	GCT		0.532	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		75	406	1	0	1.39159e-27	1	1.61281e-27	75	406					A	133755491	C	A	133755491	3	1	79	1	0	0	0	0	1	0	0	0	92	797	28	3	1634	3	ABL1	9	133755491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25166	133755491	7457940	10530	20847											
ABL1	25	broad.mit.edu	37	chr9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaaaaagaccaacttGttcagcgccttgatcaagaa	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	599					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGACCAACTTGTTCAGCGCCT	0.597			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1795-1797)ttG>ttC		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						87	98	94					9																	133759474		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759474G>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1797G>C	9.37:g.133759474G>C	ENSP00000323315:p.Leu599Phe						p.L599F	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2178	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	599					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1797G>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.16457	2.34;2.34	5.47	1.45	0.22620	.	0.069857	0.64402	D	0.000015	T	0.07503	0.0189	N	0.17082	0.46	0.37654	D	0.922527	B;B	0.14012	0.009;0.004	B;B	0.12837	0.008;0.008	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.1658	0.03836	0.228:0.2177:0.4413:0.1131	.	599;636	P00519;Q59FK4	ABL1_HUMAN;.	F	414;618;599	ENSP00000361423:L618F;ENSP00000323315:L599F	ENSP00000323315:L599F	L	+	3	2	ABL1	132749295	0.999000	0.42202	0.992000	0.48379	0.899000	0.52679	0.652000	0.24888	0.289000	0.22422	-0.258000	0.10820	TTG		0.597	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		67	760	0	0	0	1	0	67	760					C	133759474	G	C	133759474	3	2	79	1	0	0	0	0	1	0	0	0	92	1368	48	5	1979	5	ABL1	9	133759474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3983	133759474	7453957	10531	20848											
ABL1	25	broad.mit.edu	37	chr9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccctctcatatcaaccCgagtgtctcttcggaaaacc	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1009	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CATATCAACCCGAGTGTCTCT	0.662			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3025-3027)Cga>Tga		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						59	70	66					9																	133760702		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760702C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3025C>T	9.37:g.133760702C>T	ENSP00000323315:p.Arg1009*						p.R1009*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3406	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1009			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.3025C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	43	10.274030	0.99373	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4781	0.61320	0.1667:0.8333:0.0:0.0	.	.	.	.	X	824;1028;1009	.	ENSP00000323315:R1009X	R	+	1	2	ABL1	132750523	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	3.861000	0.56002	2.457000	0.83068	0.555000	0.69702	CGA		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		112	539	0	0	0	1	0	112	539					T	133760702	C	T	133760702	4	4	79	1	0	0	0	0	0	1	0	0	92	644	23	1	3207	1	ABL1	9	133760702	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1228	133760702	7452729	10532	20849											
ABL1	25	broad.mit.edu	37	chr9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggacagcaccgaggCgctgtgcctcgccatctcta	12	15	1	0	rs367600262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1038	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGCACCGAGGCGCTGTGCCTC	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								C|||	1	0.000199681	0.0008	0.0	5008	,	,		15932	0.0		0.0	False		,,,				2504	0.0					ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3112-3114)gCg>gTg		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	51	55	53		3113,3170	5.3	1	9		53	0,8600		0,0,4300	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1038/1131,1057/1150	133760790	1,13005	2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760790C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3113C>T	9.37:g.133760790C>T	ENSP00000323315:p.Ala1038Val						p.A1038V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3494	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1038			F-actin-binding.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.3113C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430541	0.62844	2.27E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	F-actin binding (2);	0.242574	0.42294	D	0.000736	T	0.23532	0.0569	L	0.36672	1.1	0.40595	D	0.981528	P;P	0.49862	0.929;0.929	B;B	0.41271	0.352;0.352	T	0.03750	-1.1007	10	0.14252	T	0.57	.	13.5841	0.61919	0.0:0.8444:0.1556:0.0	.	1038;1075	P00519;Q59FK4	ABL1_HUMAN;.	V	853;1057;1038	ENSP00000361423:A1057V;ENSP00000323315:A1038V	ENSP00000323315:A1038V	A	+	2	0	ABL1	132750611	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.145000	0.50623	2.457000	0.83068	0.555000	0.69702	GCG		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		82	376	0	0	0	1	0	82	376					T	133760790	C	T	133760790	3	4	79	1	0	0	0	0	1	0	0	0	92	768	27	1	3295	1	ABL1	9	133760790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	133760790	7452641	10533	20850											
FIBCD1	84929	broad.mit.edu	37	chr9	133779547	133779547	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactccacgccgtcggcataGgaggcgtgcgcaccgcgcag	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	430	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1288-1290)tcC>tcA		fibrinogen C domain containing 1							119	103	108					9																	133779547		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779547G>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1290C>A	9.37:g.133779547G>T						FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000372337.2_Silent_p.S272S	p.S430S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1532	-	all_hematologic(7;0.0028)		430			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1290C>A	CCDS6937.1																																																																																				0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		132	515	1	0	1.50598e-64	1	1.90284e-64	132	515					T	133779547	G	T	133779547	2	4	79	1	0	0	0	0	0	0	0	1	5909	987	35	3		3	FIBCD1	9	133779547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18757	133779547	7433884	10534	20851											
LAMC3	10319	broad.mit.edu	37	chr9	133928274	133928274	+	Frame_Shift_Del	DEL	C	C	-													aggacgtggcccctccactgCcccccttccacttccagcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928274delC	ENST00000361069.4	+	11	1994	c.1861delC	c.(1861-1863)cccfs	p.P622fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	622	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCACTGCCCCCCTTCCA	0.667											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1861-1863)ccfs		laminin, gamma 3							47	44	45					9																	133928274		2203	4300	6503	SO:0001589	frameshift_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928274delC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1861delC	9.37:g.133928274delC	ENSP00000354360:p.Pro622fs		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.P622fs	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	1994	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	622			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Frame_Shift_Del	DEL	ENST00000361069.4	37	c.1861delC	CCDS6938.1																																																																																				0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		30	372						30	372	---	---	---	---	-	133928274	C	-	133928274	7	5	79	1	0	1	0	1	0	0	0	0	8647	739	26	0	1903	0	LAMC3	9	133928274	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	148727	133928274	7285157	10535	20852											
LAMC3	10319	broad.mit.edu	37	chr9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaccagcctccgcctccGcgtcagtcccggccccagcc	9	23	1	1	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	638	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCGCCTCCGCGTCAGTCCC	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1912-1914)cGc>cAc		laminin, gamma 3		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30	29	29		1913	-9.1	0	9	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	yes	missense	LAMC3	NM_006059.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	638/1576	133928326	2,13000	2203	4298	6501	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928326G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1913G>A	9.37:g.133928326G>A	ENSP00000354360:p.Arg638His		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.R638H	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	2046	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	638			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1913G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458196	0.63401	2.27E-4	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.50277	0.75	5.65	-9.09	0.00717	Laminin B type IV (2);	0.604497	0.18674	N	0.134377	T	0.52403	0.1732	M	0.79614	2.46	0.09310	N	1	P	0.39809	0.689	P	0.47573	0.55	T	0.60419	-0.7267	10	0.49607	T	0.09	.	17.3735	0.87385	0.6445:0.0:0.3555:0.0	.	638	Q9Y6N6	LAMC3_HUMAN	H	638	ENSP00000354360:R638H	ENSP00000347156:R638H	R	+	2	0	LAMC3	132918147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.071000	0.03437	-1.933000	0.01052	-2.532000	0.00182	CGC		0.682	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		49	171	0	0	0	1	0	49	171					A	133928326	G	A	133928326	3	1	79	1	0	0	0	0	1	0	0	0	8647	1087	38	1	1955	1	LAMC3	9	133928326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	133928326	7285105	10536	20853											
LAMC3	10319	broad.mit.edu	37	chr9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagaagaccaagcaggCggagaggatgctgggaaacg	17	6	0	4	rs376347098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.A1380V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCAAGCAGGCGGAGAGGATG	0.597																																						ENST00000361069.4																			1	Substitution - Missense(1)	p.A1380V(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(4138-4140)gCg>gTg		laminin, gamma 3							100	94	96					9																	133961019		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133961019C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4139C>T	9.37:g.133961019C>T	ENSP00000354360:p.Ala1380Val					LAMC3_ENST00000480883.1_Intron	p.A1380V	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	25	4272	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1380			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.4139C>T	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.87|14.87	2.663742|2.663742	0.47572|0.47572	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	T|.	0.38560|.	1.13|.	5.11|5.11	0.869|0.869	0.19096|0.19096	.|.	0.394550|.	0.25750|.	N|.	0.028548|.	T|T	0.52533|0.52533	0.1740|0.1740	M|M	0.74881|0.74881	2.28|2.28	0.26272|0.26272	N|N	0.978417|0.978417	B;P|.	0.41345|.	0.189;0.746|.	B;B|.	0.36504|.	0.017;0.226|.	T|T	0.46789|0.46789	-0.9166|-0.9166	10|5	0.54805|.	T|.	0.06|.	.|.	7.328|7.328	0.26566|0.26566	0.0:0.58:0.0:0.42|0.0:0.58:0.0:0.42	.|.	61;1380|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|W	1380;1392|62	ENSP00000354360:A1380V|.	ENSP00000347156:A1392V|.	A|R	+|+	2|1	0|2	LAMC3|LAMC3	132950840|132950840	0.085000|0.085000	0.21516|0.21516	0.976000|0.976000	0.42696|0.42696	0.820000|0.820000	0.46376|0.46376	0.108000|0.108000	0.15396|0.15396	-0.035000|-0.035000	0.13691|0.13691	-0.224000|-0.224000	0.12420|0.12420	GCG|CGG		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		44	278	0	0	0	1	0	44	278					T	133961019	C	T	133961019	3	4	79	1	0	0	0	0	1	0	0	0	8647	768	27	1	4237	1	LAMC3	9	133961019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32693	133961019	7252412	10537	20854											
NUP214	8021	broad.mit.edu	37	chr9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccatttttcaggtttActgctgcagctacctctact	8	12	2	0	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	592	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTCAGGTTTACTGCTGCAGC	0.483			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1774-1776)Act>Gct		nucleoporin 214kDa							185	188	187					9																	134021520		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021520A>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1774A>G	9.37:g.134021520A>G	ENSP00000352400:p.Thr592Ala					RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Intron	p.T592A			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	1918	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	592			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1774A>G	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.547827|1.547827	0.27652|0.27652	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000451030;ENST00000540899;ENST00000438605|ENST00000530863	T;T|.	0.31769|.	1.49;1.48|.	5.29|5.29	-1.79|-1.79	0.07932|0.07932	.|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.30078|.	T|.	0.28|.	.|.	1.5927|1.5927	0.02657|0.02657	0.4304:0.2805:0.166:0.1232|0.4304:0.2805:0.166:0.1232	.|.	185;592|.	Q5JUP9;P35658|.	.;NU214_HUMAN|.	A|C	592;592;185;21|167	ENSP00000352400:T592A;ENSP00000405014:T592A|.	ENSP00000352400:T592A|.	T|Y	+|+	1|2	0|0	NUP214|NUP214	133011341|133011341	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.129000|0.129000	0.20672|0.20672	0.585000|0.585000	0.23879|0.23879	0.007000|0.007000	0.14760|0.14760	0.402000|0.402000	0.26972|0.26972	ACT|TAC		0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		140	1290	0	0	0	1	0	140	1290					G	134021520	A	G	134021520	3	3	79	1	0	0	0	0	1	0	0	0	10804	391	14	4	1824	4	NUP214	9	134021520	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60501	134021520	7191911	10538	20855											
NUP214	8021	broad.mit.edu	37	chr9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctcatccgtctttgCtcagcctcctgctgccagtt	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D			P35658	NU214_HUMAN	nucleoporin 214kDa	1646	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCGTCTTTGCTCAGCCTCCT	0.597			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4936-4938)gCt>gAt		nucleoporin 214kDa							138	112	121					9																	134073818		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073818C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4937C>A	9.37:g.134073818C>A	ENSP00000352400:p.Ala1646Asp					NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D	p.A1646D			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5081	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1646			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4937C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057623	0.55325	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.45;0.89;0.89;0.89;0.85	5.67	5.67	0.87782	.	0.356872	0.20531	N	0.090505	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999999	P;B;P;B;B	0.37276	0.589;0.435;0.589;0.152;0.152	B;B;B;B;B	0.35770	0.21;0.153;0.153;0.051;0.051	T	0.31364	-0.9946	10	0.46703	T	0.11	-6.1278	18.3398	0.90302	0.0:1.0:0.0:0.0	.	472;1075;1240;1636;1646	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	D	1646;1636;1647;1625;1240;1075;472;423;423	ENSP00000352400:A1646D;ENSP00000396576:A1636D;ENSP00000405014:A1647D;ENSP00000436793:A472D;ENSP00000435364:A423D	ENSP00000352400:A1646D	A	+	2	0	NUP214	133063639	0.072000	0.21174	0.897000	0.35233	0.793000	0.44817	1.713000	0.37951	2.661000	0.90470	0.462000	0.41574	GCT		0.597	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		111	471	1	0	8.05857e-52	1	1.00114e-51	111	471					A	134073818	C	A	134073818	3	1	79	1	0	0	0	0	1	0	0	0	10804	797	28	3	5051	3	NUP214	9	134073818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52298	134073818	7139613	10539	20856											
NUP214	8021	broad.mit.edu	37	chr9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcagtctttgggcagtCggcgagcagtgctgcaagtg	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L			P35658	NU214_HUMAN	nucleoporin 214kDa	1735	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTGGGCAGTCGGCGAGCAGT	0.592			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5203-5205)tCg>tTg		nucleoporin 214kDa							74	69	71					9																	134074085		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134074085C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5204C>T	9.37:g.134074085C>T	ENSP00000352400:p.Ser1735Leu					NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L	p.S1735L			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5348	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1735			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.5204C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302729	0.23736	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.39592	1.45;1.07;1.07;1.07	5.57	3.73	0.42828	.	0.861453	0.09604	N	0.779888	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48230	0.769;0.801;0.882;0.668;0.907	B;B;B;B;B	0.33295	0.128;0.09;0.128;0.09;0.161	T	0.04191	-1.0970	10	0.51188	T	0.08	0.0048	6.7765	0.23622	0.0:0.6975:0.1453:0.1572	.	561;1164;1329;1725;1735	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1735;1725;1736;1714;1329;1164;561	ENSP00000352400:S1735L;ENSP00000396576:S1725L;ENSP00000405014:S1736L;ENSP00000436793:S561L	ENSP00000352400:S1735L	S	+	2	0	NUP214	133063906	0.738000	0.28186	0.036000	0.18154	0.094000	0.18550	2.484000	0.45242	0.724000	0.32296	0.462000	0.41574	TCG		0.592	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		79	382	0	0	0	1	0	79	382					T	134074085	C	T	134074085	3	4	79	1	0	0	0	0	1	0	0	0	10804	893	31	1	5318	1	NUP214	9	134074085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	134074085	7139346	10540	20857											
NUP214	8021	broad.mit.edu	37	chr9	134090667	134090667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggggaggtttcttcagTggccttggaggaaaacccag	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000411637.2_Silent_p.S1877S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000451030.1_Silent_p.S1888S			P35658	NU214_HUMAN	nucleoporin 214kDa	1887	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTTCTTCAGTGGCCTTGGAG	0.498			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5659-5661)agT>agC		nucleoporin 214kDa							110	110	110					9																	134090667		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134090667T>C	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5661T>C	9.37:g.134090667T>C						NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000411637.2_Silent_p.S1877S	p.S1887S			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	31	5805	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1887			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.5661T>C	CCDS6940.1																																																																																				0.498	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		112	368	0	0	0	1	0	112	368					C	134090667	T	C	134090667	2	2	79	1	0	0	0	0	0	0	0	1	10804	1693	59	4		4	NUP214	9	134090667	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16582	134090667	7122764	10541	20858											
NUP214	8021	broad.mit.edu	37	chr9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccagcctttacaagccCtctgggctcgacgggaggca	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H			P35658	NU214_HUMAN	nucleoporin 214kDa	2003	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTACAAGCCCTCTGGGCTCG	0.637			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(6007-6009)cCt>cAt		nucleoporin 214kDa							44	48	47					9																	134103652		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134103652C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6008C>A	9.37:g.134103652C>A	ENSP00000352400:p.Pro2003His					NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H	p.P2003H			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	33	6152	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	2003			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.6008C>A	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.844751|2.844751	0.51164|0.51164	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	.|T;T;T;T	.|0.60299	.|0.76;0.78;0.77;0.2	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.43919	.|D	.|0.000503	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.994;0.996	T|T	0.69837|0.69837	-0.5037|-0.5037	5|10	.|0.66056	.|D	.|0.02	-22.1057|-22.1057	18.1351|18.1351	0.89616|0.89616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;1597;1993;2003	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	I|H	31|2003;1993;2004;1982;1597;1432;829	.|ENSP00000352400:P2003H;ENSP00000396576:P1993H;ENSP00000405014:P2004H;ENSP00000436793:P829H	.|ENSP00000352400:P2003H	L|P	+|+	1|2	0|0	NUP214|NUP214	133093473|133093473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.687000|5.687000	0.68219|0.68219	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CTC|CCT		0.637	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		44	264	1	0	1.03325e-14	1	1.12462e-14	44	264					A	134103652	C	A	134103652	3	1	79	1	0	0	0	0	1	0	0	0	10804	681	24	3	6138	3	NUP214	9	134103652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12985	134103652	7109779	10542	20859											
FAM78A	286336	broad.mit.edu	37	chr9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaactacccaagtctccttCttggggatgggcggcatgac	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	82										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAGTCTCCTTCTTGGGGATGG	0.637																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(244-246)aaG>aaT		family with sequence similarity 78, member A							59	53	55					9																	134151321		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134151321C>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.246G>T	9.37:g.134151321C>A	ENSP00000361345:p.Lys82Asn						p.K82N	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	613	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	82					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.246G>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320578	0.60634	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.426241	0.27673	N	0.018336	T	0.44498	0.1296	N	0.22421	0.69	0.37573	D	0.919492	B	0.21905	0.062	B	0.15870	0.014	T	0.41106	-0.9527	9	0.23891	T	0.37	-26.4836	17.3899	0.87427	0.0:1.0:0.0:0.0	.	82	Q5JUQ0	FA78A_HUMAN	N	82	.	ENSP00000361345:K82N	K	-	3	2	FAM78A	133141142	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.895000	0.39778	2.422000	0.82143	0.561000	0.74099	AAG		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		46	206	1	0	1.02591e-13	1	1.10939e-13	46	206					A	134151321	C	A	134151321	3	1	79	1	0	0	0	0	1	0	0	0	5651	912	32	3	613	3	FAM78A	9	134151321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47669	134151321	7062110	10543	20860											
FAM78A	286336	broad.mit.edu	37	chr9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcaatcaccgtgatcCcttcccggaagactctggct	7	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	37										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCGTGATCCCTTCCCGGAA	0.582																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(109-111)gGg>gAg		family with sequence similarity 78, member A							96	80	85					9																	134151457		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134151457C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.110G>A	9.37:g.134151457C>T	ENSP00000361345:p.Gly37Glu						p.G37E	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	477	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	37					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.110G>A	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403374	0.83230	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.137041	0.64402	D	0.000004	T	0.34803	0.0910	N	0.08118	0	0.37486	D	0.916183	B	0.25904	0.137	B	0.31191	0.125	T	0.38045	-0.9679	9	0.41790	T	0.15	-26.0808	13.1809	0.59653	0.0:0.8399:0.1601:0.0	.	37	Q5JUQ0	FA78A_HUMAN	E	37	.	ENSP00000361345:G37E	G	-	2	0	FAM78A	133141278	0.992000	0.36948	0.998000	0.56505	0.995000	0.86356	2.985000	0.49362	2.422000	0.82143	0.561000	0.74099	GGG		0.582	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		40	174	0	0	0	1	0	40	174					T	134151457	C	T	134151457	3	4	79	1	0	0	0	0	1	0	0	0	5651	623	22	2	749	2	FAM78A	9	134151457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	134151457	7061974	10544	20861											
BAT2L1	84726	broad.mit.edu	37	chr9	134319600	134319600	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaagccgactgttatcCttctctcccgaggaatttcc	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134319600C>A	ENST00000357304.4	+	5	553	c.498C>A	c.(496-498)tcC>tcA	p.S166S	PRRC2B_ENST00000405995.1_Silent_p.S166S|PRRC2B_ENST00000458550.1_Silent_p.S166S|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	166							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACTGTTATCCTTCTCTCCCG	0.542																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(496-498)tcC>tcA		proline-rich coiled-coil 2B							65	64	65					9																	134319600		1975	4165	6140	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134319600C>A	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.498C>A	9.37:g.134319600C>A						PRRC2B_ENST00000405995.1_Silent_p.S166S|PRRC2B_ENST00000458550.1_Silent_p.S166S	p.S166S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			5	553	+			166					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.498C>A	CCDS48044.1																																																																																				0.542	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	153	1	0	1.42033e-22	1	1.60844e-22	35	153					A	134319600	C	A	134319600	2	1	79	1	0	0	0	0	0	0	0	1	1321	668	24	3		3	BAT2L1	9	134319600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168143	134319600	6893831	10545	20862											
BAT2L1	84726	broad.mit.edu	37	chr9	134349022	134349022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaccccctgtgtggagCccagagggctacatggcact	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134349022C>T	ENST00000357304.4	+	14	2290	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	PRRC2B_ENST00000405995.1_Silent_p.S745S|PRRC2B_ENST00000458550.1_Silent_p.S745S|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	745							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGTGTGGAGCCCAGAGGGCT	0.587																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2233-2235)agC>agT		proline-rich coiled-coil 2B							34	37	36					9																	134349022		1986	4145	6131	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134349022C>T	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.2235C>T	9.37:g.134349022C>T						PRRC2B_ENST00000405995.1_Silent_p.S745S|PRRC2B_ENST00000458550.1_Silent_p.S745S|PRRC2B_ENST00000372249.1_5'UTR	p.S745S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			14	2290	+			745					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.2235C>T	CCDS48044.1																																																																																				0.587	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	114	0	0	0	1	0	24	114					T	134349022	C	T	134349022	2	4	79	1	0	0	0	0	0	0	0	1	1321	738	26	2		2	BAT2L1	9	134349022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29422	134349022	6864409	10546	20863											
BAT2L1	84726	broad.mit.edu	37	chr9	134350717	134350717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggacaggcccggggccgGggccgtggtttcagagagtt	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134350717G>T	ENST00000357304.4	+	15	3256	c.3201G>T	c.(3199-3201)cgG>cgT	p.R1067R	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1067							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCGGGGCCGGGGCCGTGGTT	0.612																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3199-3201)cgG>cgT		proline-rich coiled-coil 2B							21	25	24					9																	134350717		1850	4085	5935	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134350717G>T	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.3201G>T	9.37:g.134350717G>T						PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.R1067R	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3256	+			1067					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3201G>T	CCDS48044.1																																																																																				0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	210	1	0	0.00116845	1	0.00118049	6	210					T	134350717	G	T	134350717	2	4	79	1	0	0	0	0	0	0	0	1	1321	1219	43	3		3	BAT2L1	9	134350717	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1695	134350717	6862714	10547	20864											
BAT2L1	84726	broad.mit.edu	37	chr9	134358214	134358214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgcaaggggctgtcGtcccgcctgttaacggggtg	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134358214G>A	ENST00000357304.4	+	21	5348	c.5293G>A	c.(5293-5295)Gtc>Atc	p.V1765I	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1765							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGGGCTGTCGTCCCGCCTGT	0.567																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(5293-5295)Gtc>Atc		proline-rich coiled-coil 2B							24	28	27					9																	134358214		1949	4133	6082	SO:0001583	missense	84726						protein binding	g.chr9:134358214G>A	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.5293G>A	9.37:g.134358214G>A	ENSP00000349856:p.Val1765Ile					PRRC2B_ENST00000405995.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000372249.1_5'UTR	p.V1765I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			21	5348	+			1765					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.5293G>A	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.670|8.670	0.902559|0.902559	0.17760|0.17760	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02763	.|4.17;4.49;4.17	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|.	.|.	.|.	.|.	T|T	0.02571|0.02571	0.0078|0.0078	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19200	.|0.034;0.02	.|B;B	.|0.16722	.|0.016;0.007	T|T	0.54609|0.54609	-0.8268|-0.8268	5|9	.|0.18710	.|T	.|0.47	-30.4445|-30.4445	10.8739|10.8739	0.46900|0.46900	0.0969:0.0:0.9031:0.0|0.0969:0.0:0.9031:0.0	.|.	.|497;1765	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	H|I	497|1071;1765;1071	.|ENSP00000384606:V1071I;ENSP00000349856:V1765I;ENSP00000398853:V1071I	.|ENSP00000349856:V1765I	R|V	+|+	2|1	0|0	PRRC2B|PRRC2B	133348035|133348035	0.996000|0.996000	0.38824|0.38824	0.034000|0.034000	0.17996|0.17996	0.003000|0.003000	0.03518|0.03518	2.912000|2.912000	0.48782|0.48782	2.333000|2.333000	0.79357|0.79357	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	58	0	0	0	1	0	4	58					A	134358214	G	A	134358214	3	1	79	1	0	0	0	0	1	0	0	0	1321	1145	40	1	5375	1	BAT2L1	9	134358214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7497	134358214	6855217	10548	20865											
BAT2L1	84726	broad.mit.edu	37	chr9	134363345	134363345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgttcccaggcatgcaGcccttggagatggtgaagcc	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134363345G>T	ENST00000357304.4	+	27	6142	c.6087G>T	c.(6085-6087)caG>caT	p.Q2029H	SNORD62A_ENST00000428514.1_RNA|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000372249.1_Missense_Mutation_p.Q126H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2029							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGCATGCAGCCCTTGGAGA	0.642																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6085-6087)caG>caT		proline-rich coiled-coil 2B							40	45	44					9																	134363345		2049	4196	6245	SO:0001583	missense	84726						protein binding	g.chr9:134363345G>T	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.6087G>T	9.37:g.134363345G>T	ENSP00000349856:p.Gln2029His					PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000372249.1_Missense_Mutation_p.Q126H	p.Q2029H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			27	6142	+			2029					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.6087G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.432110|4.432110	0.83776|0.83776	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.07327	.|3.2;3.49;3.2	4.82|4.82	3.9|3.9	0.45041|0.45041	.|.	.|0.000000	.|0.39615	.|U	.|0.001304	T|T	0.19046|0.19046	0.0457|0.0457	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;P	.|0.54047	.|0.964;0.874	.|P;B	.|0.53593	.|0.73;0.417	T|T	0.00591|0.00591	-1.1655|-1.1655	5|10	.|0.87932	.|D	.|0	-21.2766|-21.2766	13.0604|13.0604	0.59003|0.59003	0.0835:0.0:0.9165:0.0|0.0835:0.0:0.9165:0.0	.|.	.|1335;2029	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	S|H	36|1335;2029;1335;126	.|ENSP00000384606:Q1335H;ENSP00000349856:Q2029H;ENSP00000398853:Q1335H	.|ENSP00000349856:Q2029H	A|Q	+|+	1|3	0|2	PRRC2B|PRRC2B	133353166|133353166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.237000|6.237000	0.72345|0.72345	2.382000|2.382000	0.81193|0.81193	0.561000|0.561000	0.74099|0.74099	GCC|CAG		0.642	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	88	1	0	7.41877e-09	1	7.77385e-09	22	88					T	134363345	G	T	134363345	3	4	79	1	0	0	0	0	1	0	0	0	1321	962	34	3	6193	3	BAT2L1	9	134363345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5131	134363345	6850086	10549	20866											
BAT2L1	84726	broad.mit.edu	37	chr9	134366949	134366949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggtcccagccgccagtCctgaacaccagcagagaggt	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134366949C>T	ENST00000357304.4	+	28	6418	c.6363C>T	c.(6361-6363)gtC>gtT	p.V2121V	PRRC2B_ENST00000465931.1_3'UTR|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000405995.1_Silent_p.V1427V|PRRC2B_ENST00000458550.1_Silent_p.V1427V|PRRC2B_ENST00000372249.1_Silent_p.V218V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2121							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCCGCCAGTCCTGAACACCA	0.622																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6361-6363)gtC>gtT		proline-rich coiled-coil 2B							12	15	14					9																	134366949		1876	4076	5952	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134366949C>T	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.6363C>T	9.37:g.134366949C>T						PRRC2B_ENST00000405995.1_Silent_p.V1427V|PRRC2B_ENST00000458550.1_Silent_p.V1427V|PRRC2B_ENST00000372249.1_Silent_p.V218V|PRRC2B_ENST00000465931.1_3'UTR	p.V2121V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			28	6418	+			2121					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6363C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.155979	0.21454	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.17	4.21	0.49690	.	.	.	.	.	T	0.46367	0.1389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	-32.1241	3.1442	0.06466	0.1838:0.5418:0.1774:0.097	.	.	.	.	S	128	.	.	P	+	1	0	PRRC2B	133356770	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.842000	0.27627	2.410000	0.81850	0.555000	0.69702	CCT		0.622	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	119	0	0	0	1	0	18	119					T	134366949	C	T	134366949	2	4	79	1	0	0	0	0	0	0	0	1	1321	842	30	2		2	BAT2L1	9	134366949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3604	134366949	6846482	10550	20867											
MED27	9442	broad.mit.edu	37	chr9	134955158	134955158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgctcacgctggagCgcagcgcctggatggcacta	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134955158C>T	ENST00000292035.5	-	1	137	c.74G>A	c.(73-75)cGc>cAc	p.R25H	MED27_ENST00000474263.1_Missense_Mutation_p.R25H|MED27_ENST00000357028.2_Missense_Mutation_p.R25H|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	25					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CACGCTGGAGCGCAGCGCCTG	0.602																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(73-75)cGc>cAc		mediator complex subunit 27							46	45	45					9																	134955158		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134955158C>T	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.74G>A	9.37:g.134955158C>T	ENSP00000292035:p.Arg25His					MED27_ENST00000357028.2_5'UTR|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000372184.3_Missense_Mutation_p.R25H	p.R25H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	1	137	-		Myeloproliferative disorder(178;0.206)	25					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.74G>A	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751356	0.96890	.	.	ENSG00000160563	ENST00000292035;ENST00000372184	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.984;0.964	T	0.81344	-0.0975	9	0.66056	D	0.02	-5.2962	18.591	0.91212	0.0:1.0:0.0:0.0	.	25;25;25	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	H	25	.	ENSP00000292035:R25H	R	-	2	0	MED27	133944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.625000	0.88918	0.650000	0.86243	CGC		0.602	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		9	255	0	0	0	1	0	9	255					T	134955158	C	T	134955158	3	4	79	1	0	0	0	0	1	0	0	0	9486	768	27	1	893	1	MED27	9	134955158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	588209	134955158	6258273	10551	20868											
NTNG2	84628	broad.mit.edu	37	chr9	135073361	135073361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgctgcaggagaatccCtacctatgcagcaacgagtg	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P|NTNG2_ENST00000372179.3_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	74	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(220-222)ccC>ccT		netrin G2							31	31	31					9																	135073361		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073361C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.222C>T	9.37:g.135073361C>T						NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P	p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	998	+			74			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.222C>T	CCDS6946.1																																																																																				0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		52	189	0	0	0	1	0	52	189					T	135073361	C	T	135073361	2	4	79	1	0	0	0	0	0	0	0	1	10747	668	24	2		2	NTNG2	9	135073361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	135073361	6140070	10552	20869											
NTNG2	84628	broad.mit.edu	37	chr9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagtacggccggcccaCggtcatggtcctggagaagt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M|NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	147	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.T147M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642																																						ENST00000393229.3																			1	Substitution - Missense(1)	p.T147M(1)	endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(439-441)aCg>aTg		netrin G2							70	53	59					9																	135073579		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073579C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.440C>T	9.37:g.135073579C>T	ENSP00000376921:p.Thr147Met					NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1216	+			147			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.440C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118965	0.77323	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;0.94;0.94;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.062591	0.64402	D	0.000010	D	0.84424	0.5469	L	0.56769	1.78	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.85845	0.1400	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	147	Q96CW9	NTNG2_HUMAN	M	147	ENSP00000376921:T147M;ENSP00000376920:T147M;ENSP00000353888:T147M;ENSP00000361252:T147M	ENSP00000353888:T147M	T	+	2	0	NTNG2	134063400	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.757000	0.62213	2.417000	0.82017	0.561000	0.74099	ACG		0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		50	247	0	0	0	1	0	50	247					T	135073579	C	T	135073579	3	4	79	1	0	0	0	0	1	0	0	0	10747	536	19	1	446	1	NTNG2	9	135073579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	135073579	6139852	10553	20870											
NTNG2	84628	broad.mit.edu	37	chr9	135073735	135073735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctctgcaccgaggagtActcgcgctgggcaggctcca	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073735A>G	ENST00000393229.3	+	3	1372	c.596A>G	c.(595-597)tAc>tGc	p.Y199C	NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	199	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCGAGGAGTACTCGCGCTGG	0.667																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(595-597)tAc>tGc		netrin G2							38	31	34					9																	135073735		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073735A>G	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.596A>G	9.37:g.135073735A>G	ENSP00000376921:p.Tyr199Cys					NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C	p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1372	+			199			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.596A>G	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493026	0.84962	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93209	0.6598	10	0.87932	D	0	.	14.2827	0.66224	1.0:0.0:0.0:0.0	.	199	Q96CW9	NTNG2_HUMAN	C	199	ENSP00000376921:Y199C;ENSP00000376920:Y199C;ENSP00000353888:Y199C;ENSP00000361252:Y199C	ENSP00000353888:Y199C	Y	+	2	0	NTNG2	134063556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.957000	0.56846	0.459000	0.35465	TAC		0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		6	242	0	0	0	1	0	6	242					G	135073735	A	G	135073735	3	3	79	1	0	0	0	0	1	0	0	0	10747	391	14	4	602	4	NTNG2	9	135073735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	135073735	6139696	10554	20871											
NTNG2	84628	broad.mit.edu	37	chr9	135073905	135073905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgacctgcgcatgcggCtgctgcgcccggcgctgggc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L|NTNG2_ENST00000372179.3_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	256	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(766-768)Ctg>Ttg		netrin G2							41	47	45					9																	135073905		2201	4294	6495	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073905C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.766C>T	9.37:g.135073905C>T						NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L	p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1542	+			256			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.766C>T	CCDS6946.1																																																																																				0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		21	555	0	0	0	1	0	21	555					T	135073905	C	T	135073905	2	4	79	1	0	0	0	0	0	0	0	1	10747	796	28	2		2	NTNG2	9	135073905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	135073905	6139526	10555	20872											
NTNG2	84628	broad.mit.edu	37	chr9	135073991	135073991	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccaacatcgaggtcatCggcaggtaaggccgggggaa	14	10	2	0	rs535593595	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073991C>T	ENST00000393229.3	+	3	1628	c.852C>T	c.(850-852)atC>atT	p.I284I	NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I|NTNG2_ENST00000372179.3_Silent_p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	284	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGGTCATCGGCAGGTAAG	0.587													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.0					ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(850-852)atC>atT		netrin G2							25	29	27					9																	135073991		2181	4270	6451	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073991C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.852C>T	9.37:g.135073991C>T						NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000372179.3_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I	p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1628	+			284			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.852C>T	CCDS6946.1																																																																																				0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		70	244	0	0	0	1	0	70	244					T	135073991	C	T	135073991	2	4	79	1	0	0	0	0	0	0	0	1	10747	874	31	1		1	NTNG2	9	135073991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	135073991	6139440	10556	20873											
NTNG2	84628	broad.mit.edu	37	chr9	135102389	135102389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctacctgccgctgccCcatggctctcccaacgcctg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P|NTNG2_ENST00000372179.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	337	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1009-1011)ccC>ccT		netrin G2							26	25	25					9																	135102389		2203	4298	6501	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102389C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1011C>T	9.37:g.135102389C>T						NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1787	+			337			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1011C>T	CCDS6946.1																																																																																				0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		14	126	0	0	0	1	0	14	126					T	135102389	C	T	135102389	2	4	79	1	0	0	0	0	0	0	0	1	10747	610	22	2		2	NTNG2	9	135102389	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28398	135102389	6111042	10557	20874											
NTNG2	84628	broad.mit.edu	37	chr9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgcaggttcctttgGcagtaagtacacgcctgggg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	351					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTTCCTTTGGCAGTAAGTAC	0.632																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1051-1053)gGc>gAc		netrin G2							36	36	36					9																	135105980		2202	4298	6500	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135105980G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1052G>A	9.37:g.135105980G>A	ENSP00000376921:p.Gly351Asp					NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D|NTNG2_ENST00000360670.3_Intron	p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	5	1828	+			351					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.1052G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635952	0.67130	.	.	ENSG00000196358	ENST00000393229;ENST00000372179	T;T	0.69806	0.84;-0.43	5.07	5.07	0.68467	.	.	.	.	.	T	0.63581	0.2523	M	0.66939	2.045	0.34114	D	0.663338	B	0.31125	0.309	B	0.26770	0.073	T	0.72154	-0.4376	9	0.37606	T	0.19	.	13.9321	0.64003	0.0:0.0:1.0:0.0	.	351	Q96CW9	NTNG2_HUMAN	D	351	ENSP00000376921:G351D;ENSP00000361252:G351D	ENSP00000361252:G351D	G	+	2	0	NTNG2	134095801	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.180000	0.58296	2.353000	0.79882	0.556000	0.70494	GGC		0.632	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		10	57	0	0	0	1	0	10	57					A	135105980	G	A	135105980	3	1	79	1	0	0	0	0	1	0	0	0	10747	1203	42	2	1066	2	NTNG2	9	135105980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	135105980	6107451	10558	20875											
NTNG2	84628	broad.mit.edu	37	chr9	135114495	135114495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggccggcccagactgCgaatgctacggtcactccaa	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1057-1059)tgC>tgT		netrin G2							98	82	87					9																	135114495		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114495C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1059C>T	9.37:g.135114495C>T						NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	p.C353C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1835	+			353			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1059C>T	CCDS6946.1																																																																																				0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		53	309	0	0	0	1	0	53	309					T	135114495	C	T	135114495	2	4	79	1	0	0	0	0	0	0	0	1	10747	776	27	1		1	NTNG2	9	135114495	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8515	135114495	6098936	10559	20876											
NTNG2	84628	broad.mit.edu	37	chr9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaccagcgctgcgcctGcccgcgcggctacaccggcg	14	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	477					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1429-1431)tGc>tAc		netrin G2							6	6	6					9																	135117335		1984	3955	5939	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135117335G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1430G>A	9.37:g.135117335G>A	ENSP00000376921:p.Cys477Tyr					NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR	p.C477Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	8	2206	+			477					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.1430G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370429	0.82573	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	D;D;D	0.99837	-7.06;-7.06;-7.06	3.5	3.5	0.40072	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99906	0.9955	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95924	0.8933	10	0.87932	D	0	.	14.1615	0.65450	0.0:0.0:1.0:0.0	.	477	Q96CW9	NTNG2_HUMAN	Y	477;469;483	ENSP00000376921:C477Y;ENSP00000376920:C469Y;ENSP00000353888:C483Y	ENSP00000353888:C483Y	C	+	2	0	NTNG2	134107156	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.688000	0.91260	1.788000	0.52465	0.491000	0.48974	TGC		0.761	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		10	42	0	0	0	1	0	10	42					A	135117335	G	A	135117335	3	1	79	1	0	0	0	0	1	0	0	0	10747	1319	46	2	1456	2	NTNG2	9	135117335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2840	135117335	6096096	10560	20877											
SETX	23064	broad.mit.edu	37	chr9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctataaaagctttcttTtcttggaactgctgtcctcc	5	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000224140.5	-	26	8200	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_ENST00000372169.2_Missense_Mutation_p.K2702T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2673	Necessary for nuclear localization.				cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGCTTTCTTTTCTTGGAACT	0.512																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(8104-8106)aAa>aCa		senataxin							119	126	123					9																	135139642		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135139642T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.8018A>C	9.37:g.135139642T>G	ENSP00000224140:p.Lys2673Thr					SETX_ENST00000224140.5_Missense_Mutation_p.K2673T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	p.K2702T			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	27	8287	-		Myeloproliferative disorder(178;0.204)	2673					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.8105A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846347	0.71603	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92348	-2.33;-3.02;-2.52;-2.12	5.57	-2.46	0.06461	.	3.800430	0.00819	N	0.001576	D	0.91061	0.7187	L	0.32530	0.975	0.18873	N	0.999981	P;P;P	0.41848	0.763;0.651;0.763	P;B;P	0.47346	0.544;0.15;0.544	T	0.82462	-0.0445	10	0.66056	D	0.02	.	13.8209	0.63320	0.0:0.7622:0.0:0.2378	.	2640;2673;2702	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2673;944;2702;2640	ENSP00000224140:K2673T;ENSP00000409143:K944T;ENSP00000361242:K2702T;ENSP00000376913:K2640T	ENSP00000224140:K2673T	K	-	2	0	SETX	134129463	0.018000	0.18449	0.019000	0.16419	0.254000	0.26022	-0.230000	0.09083	-0.377000	0.07930	0.402000	0.26972	AAA		0.512	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		240	884	0	0	0	1	0	240	884					G	135139642	T	G	135139642	3	3	79	1	0	0	0	0	1	0	0	0	14191	1841	64	4	19	4	SETX	9	135139642	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22307	135139642	6073789	10561	20878											
SETX	23064	broad.mit.edu	37	chr9	135203375	135203375	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgggagttgaagtccTtctatcaatacttttaaaat	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000224140.5	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000372169.2_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1204					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGAAGTCCTTCTATCAATA	0.403																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3610-3612)Agg>Cgg		senataxin							96	94	95					9																	135203375		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203375T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3610A>C	9.37:g.135203375T>G						SETX_ENST00000224140.5_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	p.R1204R			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3792	-		Myeloproliferative disorder(178;0.204)	1204					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.3610A>C	CCDS6947.1																																																																																				0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		90	406	0	0	0	1	0	90	406					G	135203375	T	G	135203375	2	3	79	1	0	0	0	0	0	0	0	1	14191	1608	56	4		4	SETX	9	135203375	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63733	135203375	6010056	10562	20879											
SETX	23064	broad.mit.edu	37	chr9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccattggtttttcagatCgttttctcttaggctttttt	7	8	2	1	rs369264209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000224140.5	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1164					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTTTCAGATCGTTTTCTCTT	0.393																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3490-3492)cGa>cAa		senataxin		C	GLN/ARG	0,4406		0,0,2203	80	78	79		3491	0.5	0.1	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1164/2678	135203494	1,13005	2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203494C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3491G>A	9.37:g.135203494C>T	ENSP00000224140:p.Arg1164Gln					SETX_ENST00000224140.5_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	p.R1164Q			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3673	-		Myeloproliferative disorder(178;0.204)	1164					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3491G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477901	0.26511	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86164	-1.98;-2.08;-1.69	5.9	0.463	0.16700	.	2.512000	0.01833	N	0.034818	T	0.75591	0.3870	N	0.19112	0.55	0.21355	N	0.999712	B;B;B	0.24132	0.098;0.033;0.098	B;B;B	0.12837	0.008;0.003;0.008	T	0.60167	-0.7316	10	0.30078	T	0.28	.	1.5037	0.02482	0.1165:0.3087:0.2136:0.3612	.	1164;1164;1164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1164	ENSP00000224140:R1164Q;ENSP00000361242:R1164Q;ENSP00000376913:R1164Q	ENSP00000224140:R1164Q	R	-	2	0	SETX	134193315	0.009000	0.17119	0.148000	0.22405	0.702000	0.40608	0.000000	0.12993	0.070000	0.16634	0.650000	0.86243	CGA		0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		86	381	0	0	0	1	0	86	381					T	135203494	C	T	135203494	3	4	79	1	0	0	0	0	1	0	0	0	14191	884	31	1	4610	1	SETX	9	135203494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	135203494	6009937	10563	20880											
TTF1	7270	broad.mit.edu	37	chr9	135277105	135277105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtactgccttccacagtCccaacctcactgcccacctg	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	368					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCCACAGTCCCAACCTCAC	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1102-1104)ggG>ggA		transcription termination factor, RNA polymerase I							181	156	164					9																	135277105		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277105C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1104G>A	9.37:g.135277105C>T							p.G368G	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1143	-		Myeloproliferative disorder(178;0.204)	368					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1104G>A	CCDS6948.1																																																																																				0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		144	653	0	0	0	1	0	144	653					T	135277105	C	T	135277105	2	4	79	1	0	0	0	0	0	0	0	1	16772	842	30	2		2	TTF1	9	135277105	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73611	135277105	5936326	10564	20881											
TTF1	7270	broad.mit.edu	37	chr9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactgcctcaaattcctgGtgattggactttttcttttt	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	341					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAATTCCTGGTGATTGGACT	0.507																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1021-1023)caC>caA		transcription termination factor, RNA polymerase I							110	110	110					9																	135277186		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277186G>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1023C>A	9.37:g.135277186G>T	ENSP00000333920:p.His341Gln						p.H341Q	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1062	-		Myeloproliferative disorder(178;0.204)	341					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1023C>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219808	0.09863	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	3.1	2.06	0.26882	.	1.752520	0.02938	N	0.140098	T	0.09024	0.0223	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31752	-0.9932	10	0.15066	T	0.55	.	6.7339	0.23399	0.0:0.0:0.7202:0.2798	.	341	Q15361	TTF1_HUMAN	Q	341	ENSP00000333920:H341Q	ENSP00000245588:H341Q	H	-	3	2	TTF1	134267007	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.228000	0.17814	1.415000	0.47037	0.313000	0.20887	CAC		0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		129	735	1	0	1.90269e-63	1	2.40132e-63	129	735					T	135277186	G	T	135277186	3	4	79	1	0	0	0	0	1	0	0	0	16772	1252	44	3	1734	3	TTF1	9	135277186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	135277186	5936245	10565	20882											
C9orf171	389799	broad.mit.edu	37	chr9	135374874	135374874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcctggtgactgcccgggaGaacttgctctaccgtcagct	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000343036.2	+	4	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_ENST00000393215.3_Silent_p.E137E|C9orf171_ENST00000393216.2_Silent_p.E137E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592																																						ENST00000343036.2																			0				large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.(517-519)gaG>gaA		chromosome 9 open reading frame 171							86	87	86					9																	135374874		2203	4300	6503	SO:0001819	synonymous_variant	389799							g.chr9:135374874G>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.519G>A	9.37:g.135374874G>A						C9orf171_ENST00000393216.2_Silent_p.E137E|C9orf171_ENST00000393215.3_Silent_p.E137E	p.E173E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN			4	567	+			173					Q147X1	Silent	SNP	ENST00000343036.2	37	c.519G>A	CCDS6949.1																																																																																				0.592	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		114	547	0	0	0	1	0	114	547					A	135374874	G	A	135374874	2	1	79	1	0	0	0	0	0	0	0	1	2477	933	33	2		2	C9orf171	9	135374874	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97688	135374874	5838557	10566	20883											
C9orf98	158067	broad.mit.edu	37	chr9	135753606	135753607	+	Frame_Shift_Ins	INS	-	-	G													tccccgtactggggcatctcINSgggggggatacggtgcgggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135753606_135753607insG	ENST00000298545.3	-	1	557_558	c.36_37insC	c.(34-39)cccgagfs	p.E13fs	C9orf9_ENST00000372136.3_5'UTR|AK8_ENST00000477396.1_5'UTR|C9orf9_ENST00000350499.6_5'Flank|C9orf9_ENST00000356311.5_5'Flank	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	13					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E13fs*14(2)|p.E13fs*40(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGGGCATCTCGGGGGGGATAC	0.693																																						ENST00000298545.3																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.E13fs*14(2)|p.E13fs*40(2)	large_intestine(2)|pancreas(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(34-39)ccagatfs		adenylate kinase 8																																				SO:0001589	frameshift_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135753606_135753607insG	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.37dupC	9.37:g.135753613_135753613dupG	ENSP00000298545:p.Glu13fs					C9orf9_ENST00000372136.3_5'UTR|AK8_ENST00000477396.1_5'UTR	p.D13fs	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			1	557_558	-			13					A8K821|Q8N9W9	Frame_Shift_Ins	INS	ENST00000298545.3	37	c.36_37insC	CCDS6954.1																																																																																				0.693	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		31	229						31	229	---	---	---	---	G	135753607	-	G	135753606	7	5	79	1	0	1	1	0	0	0	0	0	2516	893	31	0	1454	0	C9orf98	9	135753606	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	378732	135753606	5459825	10567	20884											
TSC1	7248	broad.mit.edu	37	chr9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggttgtagaattcctctCggtcatgctgcagctgtctg	11	10	4	1	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"D, Mis, N, F, S"	tuberous sclerosis 1 gene			"E, O"		"hamartoma, renal cell"			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(2356-2358)cGa>cAa		tuberous sclerosis 1							238	211	220					9																	135778026		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135778026C>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2357G>A	9.37:g.135778026C>T	ENSP00000298552:p.Arg786Gln		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	18	2578	-			786					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2357G>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	TSC1	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			161	591	0	0	0	1	0	161	591					T	135778026	C	T	135778026	3	4	79	1	0	0	0	0	1	0	0	0	16658	884	31	1	1161	1	TSC1	9	135778026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24420	135778026	5435405	10568	20885											
GFI1B	8328	broad.mit.edu	37	chr9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcactgagcccgccttggaCttcagcctccgctactcccc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	151	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)			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)		CCGCCTTGGACTTCAGCCTCC	0.657																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(451-453)gaC>gaA		growth factor independent 1B transcription repressor							65	50	55					9																	135863798		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.chr9:135863798C>A	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.453C>A	9.37:g.135863798C>A	ENSP00000344782:p.Asp151Glu					GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E	p.D151E			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1272	+			151			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.453C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914611	0.72983	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09163	3.15;3.01;3.01;3.15;3.15;3.01	4.97	4.97	0.65823	.	0.055638	0.64402	D	0.000001	T	0.18923	0.0454	L	0.45698	1.435	0.48341	D	0.999639	D;P	0.54772	0.968;0.907	P;P	0.58970	0.849;0.663	T	0.00500	-1.1703	10	0.52906	T	0.07	-38.8123	7.2867	0.26344	0.0:0.8095:0.0:0.1905	.	151;151	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	E	151	ENSP00000361197:D151E;ENSP00000344782:D151E;ENSP00000409546:D151E;ENSP00000446134:D151E;ENSP00000361196:D151E;ENSP00000361195:D151E	ENSP00000344782:D151E	D	+	3	2	GFI1B	134853619	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.819000	0.48049	2.276000	0.75962	0.563000	0.77884	GAC		0.657	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		39	197	1	0	9.73076e-26	1	1.11809e-25	39	197					A	135863798	C	A	135863798	3	1	79	1	0	0	0	0	1	0	0	0	6369	564	20	3	463	3	GFI1B	9	135863798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85772	135863798	5349633	10569	20886											
GFI1B	8328	broad.mit.edu	37	chr9	135866287	135866287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacaagtgccaggtgtgCggaaaggccttcagccagag	14	12	1	1	rs190810570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135866287C>T	ENST00000339463.3	+	11	1662	c.843C>T	c.(841-843)tgC>tgT	p.C281C	GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	281	Interaction with ARIH2.|Mediates interaction with GATA1.				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)			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)		GCCAGGTGTGCGGAAAGGCCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0					ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(841-843)tgC>tgT		growth factor independent 1B transcription repressor							85	72	76					9																	135866287		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:135866287C>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.843C>T	9.37:g.135866287C>T						GFI1B_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C	p.C281C			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1662	+			281			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.843C>T	CCDS6957.1																																																																																				0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		6	295	0	0	0	1	0	6	295					T	135866287	C	T	135866287	2	4	79	1	0	0	0	0	0	0	0	1	6369	776	27	1		1	GFI1B	9	135866287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2489	135866287	5347144	10570	20887											
CEL	1056	broad.mit.edu	37	chr9	135940536	135940536	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtatgacggcgaggagatCgccacacgcggaaacgtcat	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135940536C>T	ENST00000372080.4	+	4	475	c.459C>T	c.(457-459)atC>atT	p.I153I	CEL_ENST00000351304.7_Silent_p.I150I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	150					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCGAGGAGATCGCCACACGCG	0.607																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(457-459)atC>atT		carboxyl ester lipase							180	194	189					9																	135940536		2150	4250	6400	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940536C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.459C>T	9.37:g.135940536C>T						CEL_ENST00000351304.7_Silent_p.I150I	p.I153I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	475	+			150					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.459C>T	CCDS43896.1																																																																																				0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			19	1550	0	0	0	1	0	19	1550					T	135940536	C	T	135940536	2	4	79	1	0	0	0	0	0	0	0	1	3218	874	31	1		1	CEL	9	135940536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74249	135940536	5272895	10571	20888											
CEL	1056	broad.mit.edu	37	chr9	135942552	135942552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggttactgatccccgagcCctgacgctggcctataaggt	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	285				RALTL -> AAVTV (in Ref. 5; AAB35488). {ECO:0000305}.	cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCCCCGAGCCCTGACGCTGG	0.652																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(862-864)gcC>gcT		carboxyl ester lipase							35	39	37					9																	135942552		2075	4201	6276	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135942552C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.864C>T	9.37:g.135942552C>T						CEL_ENST00000351304.7_Silent_p.A285A	p.A288A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	7	880	+			285	RALTL -> AAVTV (in Ref. 5; AAB35488).				Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.864C>T	CCDS43896.1																																																																																				0.652	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			14	158	0	0	0	1	0	14	158					T	135942552	C	T	135942552	2	4	79	1	0	0	0	0	0	0	0	1	3218	610	22	2		2	CEL	9	135942552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	135942552	5270879	10572	20889											
RALGDS	5900	broad.mit.edu	37	chr9	135977147	135977147	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactgtgaggctgattcccaGaactgagggagacggtaaga	15	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135977147G>T	ENST00000372050.3	-	16	2235	c.2214C>A	c.(2212-2214)ttC>ttA	p.F738L	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000393160.3_Missense_Mutation_p.F683L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	738					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGATTCCCAGAACTGAGGGA	0.627			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2047-2049)ttC>ttA		ral guanine nucleotide dissociation stimulator							41	39	39					9																	135977147		2198	4297	6495	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135977147G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2214C>A	9.37:g.135977147G>T	ENSP00000361120:p.Phe738Leu					RALGDS_ENST00000372050.3_Missense_Mutation_p.F738L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000469972.1_5'UTR	p.F683L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2402	-			738					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2049C>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070758	0.07228	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.34072	1.89;1.39;1.89;1.85;2.05;1.38;2.31	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	N	0.20328	0.56	0.51482	D	0.999924	B;B;B;B;B;B;B	0.28605	0.037;0.087;0.217;0.145;0.041;0.087;0.087	B;B;B;B;B;B;B	0.28011	0.024;0.085;0.085;0.048;0.026;0.085;0.085	T	0.08027	-1.0742	10	0.02654	T	1	.	10.0178	0.42024	0.0758:0.1385:0.7857:0.0	.	809;709;726;683;737;726;738	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	L	738;726;683;435;737;809;709;298	ENSP00000361120:F738L;ENSP00000361117:F726L;ENSP00000376867:F683L;ENSP00000376864:F737L;ENSP00000437518:F809L;ENSP00000361132:F709L;ENSP00000391814:F298L	ENSP00000361117:F726L	F	-	3	2	RALGDS	134966968	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	5.214000	0.65236	0.652000	0.30806	0.462000	0.41574	TTC		0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		9	78	1	0	4.68919e-08	1	4.88816e-08	9	78					T	135977147	G	T	135977147	3	4	79	1	0	0	0	0	1	0	0	0	13066	933	33	3	542	3	RALGDS	9	135977147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34595	135977147	5236284	10573	20890											
GBGT1	26301	broad.mit.edu	37	chr9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccactactcacttccCcacggcaaacaccgtgaccc	5	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000372040.3	-	6	666	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	119					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACTTCCCCACGGCAAAC	0.592																																						ENST00000542690.1										T					CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(391-393)gGg>gAg		ral guanine nucleotide dissociation stimulator							98	88	91					9																	136030569		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030569C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.355G>A	9.37:g.136030569C>T	ENSP00000361110:p.Gly119Arg					GBGT1_ENST00000372040.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	p.G131E			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	672	-			60			N-terminal Ras-GEF.		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.392G>A	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485858|2.485858	0.44147|0.44147	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.42131|0.02579	1.87;0.98|4.96;4.24;4.24	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.05731|0.05731	0.0150|0.0150	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999996|0.999996	B|P;P	0.17667|0.42357	0.023|0.777;0.777	B|B;B	0.17433|0.42738	0.018|0.396;0.396	T|T	0.22452|0.22452	-1.0216|-1.0216	10|10	0.87932|0.51188	D|T	0|0.08	.|.	8.9244|8.9244	0.35632|0.35632	0.0:0.8303:0.0:0.1697|0.0:0.8303:0.0:0.1697	.|.	131|102;119	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	E|R	131|119;119;102	ENSP00000437518:G131E;ENSP00000361108:G131E|ENSP00000361113:G119R;ENSP00000361110:G119R;ENSP00000437663:G102R	ENSP00000361108:G131E|ENSP00000361110:G119R	G|G	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020390|135020390	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.084000|0.084000	0.17831|0.17831	4.413000|4.413000	0.59795|0.59795	1.085000|1.085000	0.41206|0.41206	-0.258000|-0.258000	0.10820|0.10820	GGG|GGG		0.592	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		23	147	0	0	0	1	0	23	147					T	136030569	C	T	136030569	3	4	79	1	0	0	0	0	1	0	0	0	6300	623	22	2	696	2	GBGT1	9	136030569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53422	136030569	5182862	10574	20891											
ABO	28	broad.mit.edu	37	chr9	136132863	136132863	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgctcgttgaggatgtCgatgttgaatgtgccctccc	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	ENST00000453660.2	-	0	317				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							132	148	143					9																	136132863		2140	4251	6391			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136132863C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136132863C>T										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	317	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.552	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		51	256	0	0	0	1	0	51	256					T	136132863	C	T	136132863	1	4	79	0	1	0	0	0	0	0	0	0	97	871	31	1		1	ABO	9	136132863	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102294	136132863	5080568	10575	20892											
MED22	6837	broad.mit.edu	37	chr9	136208494	136208494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtgtcgaggtccagcCtcccgtaagcttcgcacaga	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208494C>A	ENST00000491289.1	-	5	1045	c.464G>T	c.(463-465)aGg>aTg	p.R155M	MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_3'UTR|MED22_ENST00000344469.5_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	155						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GAGGTCCAGCCTCCCGTAAGC	0.637																																						ENST00000491289.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4						c.(463-465)aGg>aTg		mediator complex subunit 22							55	56	56					9																	136208494		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136208494C>A		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.464G>T	9.37:g.136208494C>A	ENSP00000420393:p.Arg155Met					MED22_ENST00000476080.1_3'UTR|MED22_ENST00000486395.1_Intron|MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000344469.5_3'UTR	p.R155M			Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	5	1045	-			155					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.464G>T	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137971	0.77775	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.56	4.56	0.56223	.	0.402007	0.27464	N	0.019259	T	0.50137	0.1598	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.50231	0.635	T	0.56469	-0.7974	9	0.87932	D	0	-8.2001	14.6524	0.68808	0.0:1.0:0.0:0.0	.	155	Q15528	MED22_HUMAN	M	155	.	ENSP00000342343:R155M	R	-	2	0	MED22	135198315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.500000	0.53318	2.355000	0.79922	0.563000	0.77884	AGG		0.637	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		6	191	1	0	8.12818e-05	1	8.2724e-05	6	191					A	136208494	C	A	136208494	3	1	79	1	0	0	0	0	1	0	0	0	9481	681	24	3	142	3	MED22	9	136208494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	136208494	5004937	10576	20893											
RPL7A	6130	broad.mit.edu	37	chr9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggcaaaggctaaagaaCttgccactaaactgggttaa	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SNORD36B_ENST00000363961.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	261					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(781-783)Ctt>Ttt		ribosomal protein L7a							39	39	39					9																	136218201		2203	4296	6499	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136218201C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.781C>T	9.37:g.136218201C>T	ENSP00000361076:p.Leu261Phe					RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|RPL7A_ENST00000463740.1_3'UTR	p.L261F	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	8	811	+			261					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.781C>T	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351939	0.41700	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.66638	0.33;-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.87097	2.86	0.80722	D	1	B	0.33280	0.405	B	0.36289	0.221	T	0.78445	-0.2201	10	0.62326	D	0.03	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	261	P62424	RL7A_HUMAN	F	261;146	ENSP00000361076:L261F;ENSP00000361071:L146F	ENSP00000361071:L146F	L	+	1	0	RPL7A	135208022	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	7.166000	0.77553	2.400000	0.81607	0.561000	0.74099	CTT		0.418	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		27	106	0	0	0	1	0	27	106					T	136218201	C	T	136218201	3	4	79	1	0	0	0	0	1	0	0	0	13650	565	20	2	811	2	RPL7A	9	136218201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9707	136218201	4995230	10577	20894											
SURF4	6836	broad.mit.edu	37	chr9	136231830	136231830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcatggtggggacgccCgcaaacatgctcttcccttc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	ENST00000371989.3	-	5	558	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000485435.2_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	143					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGGGGACGCCCGCAAACATGC	0.577																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(427-429)gcG>gcA		surfeit 4							68	55	59					9																	136231830		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231830C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.429G>A	9.37:g.136231830C>T						SURF4_ENST00000485435.2_Silent_p.A143A|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.A143A	p.A143A	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	558	-			143					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.429G>A	CCDS6968.1																																																																																				0.577	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		19	86	0	0	0	1	0	19	86					T	136231830	C	T	136231830	2	4	79	1	0	0	0	0	0	0	0	1	15457	639	23	1		1	SURF4	9	136231830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13629	136231830	4981601	10578	20895											
C9orf96	169436	broad.mit.edu	37	chr9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgaacctggtggtggaGgaaatggaaaccaaagtcaa	16	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	SURF4_ENST00000485435.2_5'Flank|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|SURF4_ENST00000371989.3_5'Flank|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			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)		TGGTGGTGGAGGAAATGGAAA	0.498																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(136-138)gaG>gaT		chromosome 9 open reading frame 96							124	102	110					9																	136245957		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136245957G>T																												ENST00000371957.3:c.138G>T	9.37:g.136245957G>T	ENSP00000361025:p.Glu46Asp					C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000371955.1_5'UTR	p.E46D	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	2	245	+			46			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.138G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248659	0.39797	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.19938	2.11;2.11	3.89	-1.63	0.08345	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129615	0.31697	U	0.007216	T	0.24236	0.0587	L	0.58669	1.825	0.35834	D	0.825527	D	0.54601	0.967	P	0.50860	0.652	T	0.15009	-1.0452	10	0.48119	T	0.1	-16.8237	7.7812	0.29066	0.5057:0.0:0.4943:0.0	.	46	Q8NE28	SGK71_HUMAN	D	46	ENSP00000398807:E46D;ENSP00000361025:E46D	ENSP00000361025:E46D	E	+	3	2	C9orf96	135235778	0.013000	0.17824	0.249000	0.24280	0.516000	0.34256	0.394000	0.20834	-0.571000	0.06014	-0.657000	0.03884	GAG		0.498	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			9	221	1	0	2.17888e-05	1	2.22852e-05	9	221					T	136245957	G	T	136245957	3	4	79	1	0	0	0	0	1	0	0	0	2515	991	35	3	144	3	C9orf96	9	136245957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14127	136245957	4967474	10579	20896											
C9orf96	169436	broad.mit.edu	37	chr9	136260729	136260729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctctctccgtgcagggCacagaagccatgcatctgcg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			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)		CCGTGCAGGGCACAGAAGCCA	0.567																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(703-705)ggC>ggT		chromosome 9 open reading frame 96							59	59	59					9																	136260729		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260729C>T																												ENST00000371957.3:c.705C>T	9.37:g.136260729C>T						C9orf96_ENST00000371955.1_5'UTR	p.G235G	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	812	+			235			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.705C>T	CCDS35169.1																																																																																				0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			35	200	0	0	0	1	0	35	200					T	136260729	C	T	136260729	2	4	79	1	0	0	0	0	0	0	0	1	2515	697	25	2		2	C9orf96	9	136260729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14772	136260729	4952702	10580	20897											
SLC2A6	11182	broad.mit.edu	37	chr9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccccgtgcggaagaagGactcgatctgctccagggac	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	496					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(1486-1488)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 6							110	96	101					9																	136337180		2203	4300	6503	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136337180G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1487C>T	9.37:g.136337180G>A	ENSP00000360966:p.Ser496Phe					SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F|SLC2A6_ENST00000485978.1_5'UTR	p.S496F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	10	1564	-			496					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.1487C>T	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851904	0.32699	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;T	0.81739	-1.53;-0.85	4.78	3.86	0.44501	.	0.481200	0.23666	N	0.045766	D	0.82346	0.5017	L	0.42632	1.34	0.26555	N	0.973838	P;P	0.50819	0.874;0.939	P;P	0.55455	0.568;0.776	T	0.75918	-0.3148	10	0.51188	T	0.08	.	14.0612	0.64802	0.0:0.152:0.848:0.0	.	434;496	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	F	434;496	ENSP00000360964:S434F;ENSP00000360966:S496F	ENSP00000360964:S434F	S	-	2	0	SLC2A6	135327001	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	3.358000	0.52284	1.222000	0.43521	0.650000	0.86243	TCC		0.617	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		78	277	0	0	0	1	0	78	277					A	136337180	G	A	136337180	3	1	79	1	0	0	0	0	1	0	0	0	14599	1174	41	2	40	2	SLC2A6	9	136337180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76451	136337180	4876251	10581	20898											
SLC2A6	11182	broad.mit.edu	37	chr9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcacctggaggccgaAggtgctctgcgggtgaagag	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(1375-1377)Ttc>Gtc		solute carrier family 2 (facilitated glucose transporter), member 6							68	73	72					9																	136337292		2203	4300	6503	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136337292A>C	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1375T>G	9.37:g.136337292A>C	ENSP00000360966:p.Phe459Val					SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V|SLC2A6_ENST00000485978.1_5'UTR	p.F459V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	10	1452	-			459					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.1375T>G	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478881	0.26511	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73363	0.24;-0.74	5.3	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118466	0.64402	N	0.000014	T	0.66096	0.2755	L	0.35593	1.075	0.36309	D	0.857513	P;P	0.52316	0.952;0.574	P;B	0.49085	0.6;0.255	T	0.67300	-0.5705	10	0.32370	T	0.25	.	6.2843	0.21025	0.7573:0.1619:0.0808:0.0	.	397;459	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	397;459	ENSP00000360964:F397V;ENSP00000360966:F459V	ENSP00000360964:F397V	F	-	1	0	SLC2A6	135327113	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	3.332000	0.52083	0.826000	0.34661	0.529000	0.55759	TTC		0.657	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		70	251	0	0	0	1	0	70	251					C	136337292	A	C	136337292	3	2	79	1	0	0	0	0	1	0	0	0	14599	72	3	4	152	4	SLC2A6	9	136337292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112	136337292	4876139	10582	20899											
TMEM8C	389827	broad.mit.edu	37	chr9	136385362	136385362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactccaggatgtcgtgacGcatgaagcacagcacagaca	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136385362G>A	ENST00000339996.3	-	2	285	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	62					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATGTCGTGACGCATGAAGCAC	0.587																																						ENST00000339996.3																			0				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						c.(184-186)Cgt>Tgt		transmembrane protein 8C							134	107	116					9																	136385362		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136385362G>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.184C>T	9.37:g.136385362G>A	ENSP00000419712:p.Arg62Cys					TMEM8C_ENST00000413714.1_5'UTR	p.R62C	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN			2	285	-			62						Missense_Mutation	SNP	ENST00000339996.3	37	c.184C>T	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620717	0.46736	.	.	ENSG00000187616	ENST00000339996	T	0.46819	0.86	4.93	4.93	0.64822	.	0.147714	0.38326	N	0.001730	T	0.60301	0.2258	L	0.56769	1.78	0.41486	D	0.988199	D	0.76494	0.999	P	0.57846	0.828	T	0.64859	-0.6308	10	0.66056	D	0.02	-14.4596	15.3445	0.74324	0.0:0.0:1.0:0.0	.	62	A6NI61	TMM8C_HUMAN	C	62	ENSP00000419712:R62C	ENSP00000419712:R62C	R	-	1	0	TMEM8C	135375183	1.000000	0.71417	0.428000	0.26697	0.117000	0.20001	4.457000	0.60088	2.291000	0.77112	0.456000	0.33151	CGT		0.587	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		13	302	0	0	0	1	0	13	302					A	136385362	G	A	136385362	3	1	79	1	0	0	0	0	1	0	0	0	16268	1087	38	1	497	1	TMEM8C	9	136385362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48070	136385362	4828069	10583	20900											
SARDH	1757	broad.mit.edu	37	chr9	136531866	136531866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggactcaccggcccaccGctggggtcatggatgtaacc	14	13	2	0	rs201450596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	ENST00000371872.4	-	20	2879	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Silent_p.S324S|SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000439388.1_Silent_p.S874S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	874					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGGCCCACCGCTGGGGTCAT	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16223	0.0		0.002	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2620-2622)agC>agT		sarcosine dehydrogenase							70	50	57					9																	136531866		2194	4294	6488	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136531866G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2622C>T	9.37:g.136531866G>A						SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000371868.1_Silent_p.S324S|SARDH_ENST00000439388.1_Silent_p.S874S	p.S874S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	20	2879	-			874					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2622C>T	CCDS6978.1																																																																																				0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	39	0	0	0	1	0	7	39					A	136531866	G	A	136531866	2	1	79	1	0	0	0	0	0	0	0	1	13891	1078	38	1		1	SARDH	9	136531866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146504	136531866	4681565	10584	20901											
SARDH	1757	broad.mit.edu	37	chr9	136561447	136561447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggacatgtcaaacacagCggcggcccctctgcaggcca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136561447C>T	ENST00000371872.4	-	14	1962	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	569					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAAACACAGCGGCGGCCCCT	0.592																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1705-1707)Gct>Act		sarcosine dehydrogenase							80	75	77					9																	136561447		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136561447C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1705G>A	9.37:g.136561447C>T	ENSP00000360938:p.Ala569Thr					SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T	p.A569T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	14	1962	-			569					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1705G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319000	0.95682	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.84873	-1.91;-1.91;-1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.80422	2.495	0.80722	D	1	D	0.62365	0.991	P	0.58520	0.84	D	0.91965	0.5582	10	0.52906	T	0.07	-14.4574	18.4371	0.90650	0.0:1.0:0.0:0.0	.	569	Q9UL12	SARDH_HUMAN	T	569;569;401;569	ENSP00000360938:A569T;ENSP00000403084:A569T;ENSP00000415537:A401T	ENSP00000360938:A569T	A	-	1	0	SARDH	135551268	1.000000	0.71417	0.094000	0.20943	0.832000	0.47134	4.809000	0.62591	2.410000	0.81850	0.655000	0.94253	GCT		0.592	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			9	414	0	0	0	1	0	9	414					T	136561447	C	T	136561447	3	4	79	1	0	0	0	0	1	0	0	0	13891	768	27	1	1083	1	SARDH	9	136561447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29581	136561447	4651984	10585	20902											
SARDH	1757	broad.mit.edu	37	chr9	136573457	136573457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccggccagcggctcatcGtgggggaagacgacggagta	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	474					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGCTCATCGTGGGGGAAGA	0.662																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1420-1422)caC>caT		sarcosine dehydrogenase							93	93	93					9																	136573457		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573457G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1422C>T	9.37:g.136573457G>A						SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1679	-			474					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1422C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803202	0.16397	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	0.649	0.17806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-39.7047	9.7065	0.40218	0.4372:0.0:0.5628:0.0	.	.	.	.	X	474	.	ENSP00000441529:R474X	R	-	1	2	SARDH	135563278	0.907000	0.30839	1.000000	0.80357	0.714000	0.41099	0.095000	0.15127	0.201000	0.20466	-0.251000	0.11542	CGA		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			76	494	0	0	0	1	0	76	494					A	136573457	G	A	136573457	2	1	79	1	0	0	0	0	0	0	0	1	13891	1136	40	1		1	SARDH	9	136573457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12010	136573457	4639974	10586	20903											
SARDH	1757	broad.mit.edu	37	chr9	136594899	136594899	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacctacctgaatcccctcGatgcgctcggtgacgacata	8	16	0	2	rs200130370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000298628.5_Silent_p.I301I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	301					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18860	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(901-903)atC>atT		sarcosine dehydrogenase							98	82	87					9																	136594899		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594899G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.903C>T	9.37:g.136594899G>A						SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I	p.I301I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1160	-			301					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.903C>T	CCDS6978.1																																																																																				0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			67	268	0	0	0	1	0	67	268					A	136594899	G	A	136594899	2	1	79	1	0	0	0	0	0	0	0	1	13891	1048	37	1		1	SARDH	9	136594899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21442	136594899	4618532	10587	20904											
BRD3	8019	broad.mit.edu	37	chr9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgagattggatgatgTgcactacccggcccagcttc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	597	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1789-1791)cAc>cGc		bromodomain containing 3							80	77	78					9																	136901300		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901300T>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1790A>G	9.37:g.136901300T>C	ENSP00000305918:p.His597Arg					BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.H597R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1975	-			597					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1790A>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771699	0.69992	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.15372	2.43	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.21921	0.0528	L	0.59967	1.855	0.80722	D	1	B	0.25441	0.126	B	0.31101	0.124	T	0.02398	-1.1165	10	0.46703	T	0.11	-18.4594	14.1802	0.65568	0.0:0.0:0.0:1.0	.	597	Q15059	BRD3_HUMAN	R	597;276	ENSP00000305918:H597R	ENSP00000305918:H597R	H	-	2	0	BRD3	135891121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.055000	0.71103	1.946000	0.56461	0.402000	0.26972	CAC		0.587	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		66	343	0	0	0	1	0	66	343					C	136901300	T	C	136901300	3	2	79	1	0	0	0	0	1	0	0	0	1507	1696	59	4	402	4	BRD3	9	136901300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306401	136901300	4312131	10588	20905											
BRD3	8019	broad.mit.edu	37	chr9	136907020	136907020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgggggcaggcagcgcCggtgcctccacgggctcatc	17	16	1	0	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	423					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1267-1269)ccG>ccA		bromodomain containing 3		C		0,4406		0,0,2203	25	28	27		1269	-3.8	0	9	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		423/727	136907020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136907020C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1269G>A	9.37:g.136907020C>T						BRD3_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000357885.2_Silent_p.P423P	p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1454	-			423					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.1269G>A	CCDS6980.1																																																																																				0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		25	109	0	0	0	1	0	25	109					T	136907020	C	T	136907020	2	4	79	1	0	0	0	0	0	0	0	1	1507	639	23	1		1	BRD3	9	136907020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5720	136907020	4306411	10589	20906											
BRD3	8019	broad.mit.edu	37	chr9	136913346	136913346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccctgaggatgctgtcGcagtagcgtaggtgctccga	13	11	1	1	rs200782945		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000371834.2_Silent_p.C315C|BRD3_ENST00000357885.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	315					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(943-945)tgC>tgT		bromodomain containing 3		G		0,4406		0,0,2203	85	61	69		945	-4.3	1	9		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/727	136913346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136913346G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.945C>T	9.37:g.136913346G>A						BRD3_ENST00000371834.2_Silent_p.C315C|BRD3_ENST00000357885.2_Silent_p.C315C	p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	1130	-			315					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.945C>T	CCDS6980.1																																																																																				0.642	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		23	149	0	0	0	1	0	23	149					A	136913346	G	A	136913346	2	1	79	1	0	0	0	0	0	0	0	1	1507	1079	38	1		1	BRD3	9	136913346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6326	136913346	4300085	10590	20907											
BRD3	8019	broad.mit.edu	37	chr9	136913496	136913496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggggtctgacaacggCgggggcgactcactccggct	16	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	ENST00000303407.7	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_ENST00000371834.2_Silent_p.P265P|BRD3_ENST00000357885.2_Silent_p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	265					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGACAACGGCGGGGGCGACT	0.637			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(793-795)ccG>ccA		bromodomain containing 3							43	54	51					9																	136913496		2203	4294	6497	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136913496C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.795G>A	9.37:g.136913496C>T						BRD3_ENST00000371834.2_Silent_p.P265P|BRD3_ENST00000357885.2_Silent_p.P265P	p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	980	-			265					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.795G>A	CCDS6980.1																																																																																				0.637	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		20	354	0	0	0	1	0	20	354					T	136913496	C	T	136913496	2	4	79	1	0	0	0	0	0	0	0	1	1507	755	27	1		1	BRD3	9	136913496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	136913496	4299935	10591	20908											
BRD3	8019	broad.mit.edu	37	chr9	136917482	136917482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtcctgcatacattcGcttgcactccaataataatt	5	10	0	1	rs61731642		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_Silent_p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	99	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373			T	C15orf55	lethal midline carcinoma of young people								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0					ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(295-297)agC>agT		bromodomain containing 3		G		11,4395	17.9+/-39.9	0,11,2192	106	108	108		297	-8.7	0	9	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	BRD3	NM_007371.3		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		99/727	136917482	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136917482G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.297C>T	9.37:g.136917482G>A						BRD3_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_Silent_p.S99S	p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	3	482	-			99			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.297C>T	CCDS6980.1																																																																																				0.373	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		31	264	0	0	0	1	0	31	264					A	136917482	G	A	136917482	2	1	79	1	0	0	0	0	0	0	0	1	1507	1078	38	1		1	BRD3	9	136917482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3986	136917482	4295949	10592	20909											
BRD3	8019	broad.mit.edu	37	chr9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggatccccgcgggggCgactgtcgtggcggtggaca	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	8					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(22-24)Gcc>Acc		bromodomain containing 3							11	14	13					9																	136918578		2184	4281	6465	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136918578C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.22G>A	9.37:g.136918578C>T	ENSP00000305918:p.Ala8Thr					BRD3_ENST00000371834.2_Missense_Mutation_p.A8T|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T	p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	2	207	-			8					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.22G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645186	0.14451	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842;ENST00000433041	T;T;T;T	0.15603	3.28;3.0;3.0;2.41	4.87	2.74	0.32292	.	0.201811	0.24876	N	0.034884	T	0.11922	0.0290	L	0.28556	0.865	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.48119	T	0.1	-11.6772	8.9493	0.35779	0.0:0.7091:0.0:0.2909	.	8;8	Q15059-2;Q15059	.;BRD3_HUMAN	T	8	ENSP00000305918:A8T;ENSP00000360900:A8T;ENSP00000350557:A8T;ENSP00000360908:A8T	ENSP00000305918:A8T	A	-	1	0	BRD3	135908399	0.481000	0.25941	0.760000	0.31359	0.127000	0.20565	0.989000	0.29629	1.045000	0.40225	-0.444000	0.05651	GCC		0.682	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		24	113	0	0	0	1	0	24	113					T	136918578	C	T	136918578	3	4	79	1	0	0	0	0	1	0	0	0	1507	768	27	1	2202	1	BRD3	9	136918578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1096	136918578	4294853	10593	20910											
WDR5	11091	broad.mit.edu	37	chr9	137019649	137019649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcaaatacatcctggcCgccacgctggacaagtgagt	11	12	0	1	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	231					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617													C|||	5	0.000998403	0.0015	0.0029	5008	,	,		16863	0.0		0.001	False		,,,				2504	0.0					ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(691-693)gcC>gcT		WD repeat domain 5		C	,	18,4388	26.2+/-53.5	0,18,2185	154	141	146		693,693	-8	0.1	9	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	0,20,6483	TT,TC,CC		0.0233,0.4085,0.1538	,	231/335,231/335	137019649	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019649C>T	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.693C>T	9.37:g.137019649C>T						WDR5_ENST00000425041.1_Silent_p.A231A	p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	10	864	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	231					Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	c.693C>T	CCDS6981.1																																																																																				0.617	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		195	887	0	0	0	1	0	195	887					T	137019649	C	T	137019649	2	4	79	1	0	0	0	0	0	0	0	1	17357	639	23	1		1	WDR5	9	137019649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101071	137019649	4193782	10594	20911											
RXRA	6256	broad.mit.edu	37	chr9	137328346	137328346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccgcctgccggctctGcgctccatcgggctcaaatg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	ENST00000481739.1	+	10	1327	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RXRA_ENST00000540193.1_Silent_p.L328L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	425	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TGCCGGCTCTGCGCTCCATCG	0.617																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(982-984)ctG>ctA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						125	112	116					9																	137328346		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328346G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1275G>A	9.37:g.137328346G>A						RXRA_ENST00000481739.1_Silent_p.L425L|RXRA_ENST00000356384.4_3'UTR	p.L328L			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	9	1907	+			425			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.984G>A	CCDS35172.1																																																																																				0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		21	548	0	0	0	1	0	21	548					A	137328346	G	A	137328346	2	1	79	1	0	0	0	0	0	0	0	1	13813	1306	46	2		2	RXRA	9	137328346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308697	137328346	3885085	10595	20912											
COL5A1	1289	broad.mit.edu	37	chr9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctacgaggaccacaCggggaagcctggcccggaag	13	14	1	0	rs561761305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	144	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(430-432)aCg>aTg		collagen, type V, alpha 1							55	61	59					9																	137591908		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591908C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.431C>T	9.37:g.137591908C>T	ENSP00000360882:p.Thr144Met					COL5A1_ENST00000464187.1_3'UTR	p.T144M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	845	+		Myeloproliferative disorder(178;0.0341)	144			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.431C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608730	0.46527	.	.	ENSG00000130635	ENST00000371817	T	0.02472	4.28	4.57	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.507528	0.17987	U	0.155333	T	0.04003	0.0112	M	0.68593	2.085	0.32628	N	0.522422	B	0.11235	0.004	B	0.10450	0.005	T	0.02751	-1.1115	10	0.49607	T	0.09	.	5.2768	0.15653	0.1567:0.6225:0.0:0.2207	.	144	P20908	CO5A1_HUMAN	M	144	ENSP00000360882:T144M	ENSP00000360882:T144M	T	+	2	0	COL5A1	136731729	0.445000	0.25657	0.954000	0.39281	0.986000	0.74619	1.052000	0.30429	1.047000	0.40274	0.655000	0.94253	ACG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		70	304	0	0	0	1	0	70	304					T	137591908	C	T	137591908	3	4	79	1	0	0	0	0	1	0	0	0	3705	536	19	1	441	1	COL5A1	9	137591908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263562	137591908	3621523	10596	20913											
COL5A1	1289	broad.mit.edu	37	chr9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaattcgctttcagtacaCggaaggagacggcgagggtg	15	9	1	1	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(790-792)aCg>aTg		collagen, type V, alpha 1		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	121	120		791	3.9	1	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620520C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met						p.T264M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1205	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.791C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		165	863	0	0	0	1	0	165	863					T	137620520	C	T	137620520	3	4	79	1	0	0	0	0	1	0	0	0	3705	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28612	137620520	3592911	10597	20914											
COL5A1	1289	broad.mit.edu	37	chr9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggaaacgatccggaacCttgacgagaactactacgac	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	412	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATCCGGAACCTTGACGAGAA	0.622																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1234-1236)Ctt>Att		collagen, type V, alpha 1							140	111	121					9																	137623411		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623411C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1234C>A	9.37:g.137623411C>A	ENSP00000360882:p.Leu412Ile						p.L412I	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1648	+		Myeloproliferative disorder(178;0.0341)	412			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1234C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174191	0.09391	.	.	ENSG00000130635	ENST00000371817	D	0.89552	-2.53	4.16	2.19	0.27852	.	0.936132	0.08761	U	0.897691	T	0.79082	0.4386	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61520	-0.7046	10	0.22109	T	0.4	.	5.1304	0.14907	0.0:0.4548:0.4015:0.1437	.	412	P20908	CO5A1_HUMAN	I	412	ENSP00000360882:L412I	ENSP00000360882:L412I	L	+	1	0	COL5A1	136763232	0.239000	0.23836	0.097000	0.21041	0.137000	0.21094	0.610000	0.24253	0.188000	0.20168	0.313000	0.20887	CTT		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	425	1	0	0.000308642	1	0.000312942	13	425					A	137623411	C	A	137623411	3	1	79	1	0	0	0	0	1	0	0	0	3705	681	24	3	1264	3	COL5A1	9	137623411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2891	137623411	3590020	10598	20915											
COL5A1	1289	broad.mit.edu	37	chr9	137630615	137630615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccggacctccaggaacCatgggtcccactggccaagt	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630615C>T	ENST00000371817.3	+	11	1869	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	485	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAGGAACCATGGGTCCCA	0.557																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1453-1455)acC>acT		collagen, type V, alpha 1							71	81	78					9																	137630615		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630615C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1455C>T	9.37:g.137630615C>T							p.T485T	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1869	+		Myeloproliferative disorder(178;0.0341)	485			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1455C>T	CCDS6982.1																																																																																				0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		34	489	0	0	0	1	0	34	489					T	137630615	C	T	137630615	2	4	79	1	0	0	0	0	0	0	0	1	3705	581	21	2		2	COL5A1	9	137630615	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7204	137630615	3582816	10599	20916											
COL5A1	1289	broad.mit.edu	37	chr9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccaagtcggggaccctggaGaaagggtaagaggttgactg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	497	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCCTGGAGAAAGGGTAAG	0.572																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1489-1491)Gaa>Taa		collagen, type V, alpha 1							75	76	76					9																	137630649		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630649G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1489G>T	9.37:g.137630649G>T	ENSP00000360882:p.Glu497*						p.E497*	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1903	+		Myeloproliferative disorder(178;0.0341)	497			Interrupted collagenous region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.1489G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	10.520879	0.99420	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000360882:E497X	E	+	1	0	COL5A1	136770470	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.337000	0.72958	2.166000	0.68216	0.491000	0.48974	GAA		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		65	382	1	0	1.1794e-34	1	1.40398e-34	65	382					T	137630649	G	T	137630649	4	4	79	1	0	0	0	0	0	1	0	0	3705	943	33	3	1531	3	COL5A1	9	137630649	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	137630649	3582782	10600	20917											
COL5A1	1289	broad.mit.edu	37	chr9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaccctggtccttccgGcccaccaggacctccgggag	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	652	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCTTCCGGCCCACCAGGA	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1954-1956)gGc>gAc		collagen, type V, alpha 1							111	102	105					9																	137653790		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653790G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1955G>A	9.37:g.137653790G>A	ENSP00000360882:p.Gly652Asp						p.G652D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2369	+		Myeloproliferative disorder(178;0.0341)	652			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1955G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223112	0.39300	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.53	4.53	0.55603	.	0.154112	0.42294	U	0.000725	D	0.99764	0.9904	H	0.98133	4.155	0.51767	D	0.999933	D	0.89917	1.0	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	12.7642	0.57383	0.0:0.0:1.0:0.0	.	652	P20908	CO5A1_HUMAN	D	652	ENSP00000360882:G652D	ENSP00000360882:G652D	G	+	2	0	COL5A1	136793611	1.000000	0.71417	0.993000	0.49108	0.371000	0.29859	6.552000	0.73914	2.067000	0.61834	0.556000	0.70494	GGC		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		67	319	0	0	0	1	0	67	319					A	137653790	G	A	137653790	3	1	79	1	0	0	0	0	1	0	0	0	3705	1203	42	2	2029	2	COL5A1	9	137653790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23141	137653790	3559641	10601	20918											
COL5A1	1289	broad.mit.edu	37	chr9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcccaccaggacctcCgggagacgatggagaaaggg	15	12	0	2	rs149912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1969-1971)cCg>cTg		collagen, type V, alpha 1			LEU/PRO	0,4404		0,0,2202	109	100	103		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653805C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1970C>T	9.37:g.137653805C>T	ENSP00000360882:p.Pro657Leu						p.P657L	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2384	+		Myeloproliferative disorder(178;0.0341)	657			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1970C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		25	341	0	0	0	1	0	25	341					T	137653805	C	T	137653805	3	4	79	1	0	0	0	0	1	0	0	0	3705	652	23	1	2044	1	COL5A1	9	137653805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	137653805	3559626	10602	20919											
COL5A1	1289	broad.mit.edu	37	chr9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcacagggggccgatgGcatccgtggtctgaagggca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	799	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGCCGATGGCATCCGTGGT	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2395-2397)gGc>gAc		collagen, type V, alpha 1							94	99	97					9																	137671958		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137671958G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2396G>A	9.37:g.137671958G>A	ENSP00000360882:p.Gly799Asp						p.G799D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	28	2810	+		Myeloproliferative disorder(178;0.0341)	799			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2396G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452148	0.63290	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.99	3.99	0.46301	.	.	.	.	.	D	0.99809	0.9917	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96523	0.9387	9	0.87932	D	0	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	799	P20908	CO5A1_HUMAN	D	799	ENSP00000360882:G799D	ENSP00000360882:G799D	G	+	2	0	COL5A1	136811779	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	8.204000	0.89741	1.933000	0.56026	0.655000	0.94253	GGC		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		121	549	0	0	0	1	0	121	549					A	137671958	G	A	137671958	3	1	79	1	0	0	0	0	1	0	0	0	3705	1203	42	2	2506	2	COL5A1	9	137671958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18153	137671958	3541473	10603	20920											
COL5A1	1289	broad.mit.edu	37	chr9	137703363	137703363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggcgagccggggcctcGgggccagcagggccttttcg	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	ENST00000371817.3	+	46	4022	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1203	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGCCTCGGGGCCAGCAG	0.652											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3607-3609)cGg>cAg		collagen, type V, alpha 1							19	22	21					9																	137703363		2198	4282	6480	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137703363G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3608G>A	9.37:g.137703363G>A	ENSP00000360882:p.Arg1203Gln		OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1635		p.R1203Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	46	4022	+		Myeloproliferative disorder(178;0.0341)	1203			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3608G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617406	0.66672	.	.	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.94215	0.8143	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.70227	0.968	D	0.94818	0.7984	10	0.54805	T	0.06	.	16.5137	0.84293	0.0:0.0:1.0:0.0	.	1203	P20908	CO5A1_HUMAN	Q	1203	ENSP00000360882:R1203Q	ENSP00000360882:R1203Q	R	+	2	0	COL5A1	136843184	1.000000	0.71417	0.359000	0.25824	0.434000	0.31775	9.707000	0.98725	1.886000	0.54624	0.544000	0.68410	CGG		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		29	114	0	0	0	1	0	29	114					A	137703363	G	A	137703363	3	1	79	1	0	0	0	0	1	0	0	0	3705	1116	39	1	3790	1	COL5A1	9	137703363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31405	137703363	3510068	10604	20921											
COL5A1	1289	broad.mit.edu	37	chr9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctcccaggatccccaGgcccggacggtccccccggc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1456	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATCCCCAGGCCCGGACGG	0.632																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4366-4368)Ggc>Tgc		collagen, type V, alpha 1							51	50	50					9																	137710721		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137710721G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4366G>T	9.37:g.137710721G>T	ENSP00000360882:p.Gly1456Cys						p.G1456C	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	56	4780	+		Myeloproliferative disorder(178;0.0341)	1456			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4366G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870760	0.72065	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99635	0.9866	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97268	0.9909	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1456	P20908	CO5A1_HUMAN	C	1456	ENSP00000360882:G1456C	ENSP00000360882:G1456C	G	+	1	0	COL5A1	136850542	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGC		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		47	253	1	0	2.69774e-35	1	3.21965e-35	47	253					T	137710721	G	T	137710721	3	4	79	1	0	0	0	0	1	0	0	0	3705	1000	35	3	4588	3	COL5A1	9	137710721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7358	137710721	3502710	10605	20922											
COL5A1	1289	broad.mit.edu	37	chr9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtccaactggcccgAagggtgaggcaggccaccca	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACTGGCCCGAAGGGTGAGGC	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4660-4662)Aag>Gag		collagen, type V, alpha 1							99	116	110					9																	137715277		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137715277A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4660A>G	9.37:g.137715277A>G	ENSP00000360882:p.Lys1554Glu						p.K1554E	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5074	+		Myeloproliferative disorder(178;0.0341)	1554	K -> R (in Ref. 1; BAA14323).		Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4660A>G	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112518	0.77210	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.94138	-3.36	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	D	0.94238	0.8150	L	0.33710	1.025	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.94402	0.7624	10	0.48119	T	0.1	.	14.9462	0.71032	1.0:0.0:0.0:0.0	.	1554	P20908	CO5A1_HUMAN	E	1554;91	ENSP00000360882:K1554E	ENSP00000347458:K91E	K	+	1	0	COL5A1	136855098	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.247000	0.95444	1.934000	0.56057	0.523000	0.50628	AAG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		123	615	0	0	0	1	0	123	615					G	137715277	A	G	137715277	3	3	79	1	0	0	0	0	1	0	0	0	3705	247	9	4	4902	4	COL5A1	9	137715277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4556	137715277	3498154	10606	20923											
COL5A1	1289	broad.mit.edu	37	chr9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacaacccctacatccGcgccctggtggacggctgtg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1783	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACATCCGCGCCCTGGTG	0.667																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5347-5349)cGc>cAc		collagen, type V, alpha 1							75	64	67					9																	137727028		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137727028G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5348G>A	9.37:g.137727028G>A	ENSP00000360882:p.Arg1783His						p.R1783H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	65	5762	+		Myeloproliferative disorder(178;0.0341)	1783			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5348G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656189	0.47467	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73897	-0.79	5.03	1.15	0.20763	Fibrillar collagen, C-terminal (4);	0.096797	0.41605	U	0.000857	T	0.64538	0.2607	L	0.48877	1.53	0.22446	N	0.999096	B	0.14012	0.009	B	0.12837	0.008	T	0.56025	-0.8047	10	0.52906	T	0.07	.	9.8595	0.41105	0.281:0.0:0.719:0.0	.	1783	P20908	CO5A1_HUMAN	H	1783;320	ENSP00000360882:R1783H	ENSP00000347458:R320H	R	+	2	0	COL5A1	136866849	0.998000	0.40836	0.884000	0.34674	0.982000	0.71751	2.669000	0.46825	-0.051000	0.13334	-0.254000	0.11334	CGC		0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		28	185	0	0	0	1	0	28	185					A	137727028	G	A	137727028	3	1	79	1	0	0	0	0	1	0	0	0	3705	1087	38	1	5606	1	COL5A1	9	137727028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11751	137727028	3486403	10607	20924											
FCN2	2220	broad.mit.edu	37	chr9	137772718	137772718	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcgctgccaccctgctgctCtctttcctgggcatggcctg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000291744.6	+	1	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000350339.2_Silent_p.L17L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	17					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTGCTGCTCTCTTTCCTGG	0.607																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(49-51)ctC>ctA		ficolin (collagen/fibrinogen domain containing lectin) 2							40	46	44					9																	137772718		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772718C>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.51C>A	9.37:g.137772718C>A						FCN2_ENST00000291744.6_Silent_p.L17L	p.L17L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	65	+		Myeloproliferative disorder(178;0.0333)	17					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.51C>A	CCDS6983.1																																																																																				0.607	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	130	1	0	0.0381472	1	0.0382505	8	130					A	137772718	C	A	137772718	2	1	79	1	0	0	0	0	0	0	0	1	5817	900	32	3		3	FCN2	9	137772718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45690	137772718	3440713	10608	20925											
FCN2	2220	broad.mit.edu	37	chr9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctctgtgacatggacacgGacggagggggctggaccgtg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000291744.6	+	5	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	138	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CATGGACACGGACGGAGGGGG	0.667																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(298-300)Gac>Aac		ficolin (collagen/fibrinogen domain containing lectin) 2							34	35	35					9																	137777195		2203	4295	6498	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777195G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.412G>A	9.37:g.137777195G>A	ENSP00000291744:p.Asp138Asn					FCN2_ENST00000291744.6_Missense_Mutation_p.D138N	p.D100N	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	4	312	+		Myeloproliferative disorder(178;0.0333)	138			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.298G>A	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142895	0.57044	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.78595	-1.19;-1.19	3.43	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.318052	0.21853	N	0.068150	D	0.88440	0.6437	M	0.88640	2.97	0.43412	D	0.995559	D;D	0.64830	0.994;0.989	D;D	0.70016	0.967;0.951	D	0.90157	0.4225	10	0.87932	D	0	.	12.333	0.55049	0.0:0.0:1.0:0.0	.	100;138	Q15485-2;Q15485	.;FCN2_HUMAN	N	100;138	ENSP00000291741:D100N;ENSP00000291744:D138N	ENSP00000291744:D138N	D	+	1	0	FCN2	136917016	1.000000	0.71417	0.048000	0.18961	0.396000	0.30629	6.579000	0.74036	1.441000	0.47550	0.462000	0.41574	GAC		0.667	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		24	129	0	0	0	1	0	24	129					A	137777195	G	A	137777195	3	1	79	1	0	0	0	0	1	0	0	0	5817	1174	41	2	430	2	FCN2	9	137777195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4477	137777195	3436236	10609	20926											
FCN1	2219	broad.mit.edu	37	chr9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatatttgtaccccttcGccgcactccagttgatacca	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	309	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTACCCCTTCGCCGCACTCCA	0.577																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(925-927)gCg>gTg		ficolin (collagen/fibrinogen domain containing) 1							108	99	102					9																	137801699		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801699G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.926C>T	9.37:g.137801699G>A	ENSP00000360871:p.Ala309Val						p.A309V	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	1017	-		Myeloproliferative disorder(178;0.0333)	309			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.926C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	6.162	0.398001	0.11696	.	.	ENSG00000085265	ENST00000371806	T	0.76186	-1.0	3.2	1.31	0.21738	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.53029	0.1771	N	0.04880	-0.145	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.40776	-0.9545	9	0.49607	T	0.09	.	13.1125	0.59281	0.0:0.8293:0.1707:0.0	.	309	O00602	FCN1_HUMAN	V	309	ENSP00000360871:A309V	ENSP00000360871:A309V	A	-	2	0	FCN1	136941520	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.833000	0.39161	0.187000	0.20147	-0.814000	0.03130	GCG		0.577	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		101	378	0	0	0	1	0	101	378					A	137801699	G	A	137801699	3	1	79	1	0	0	0	0	1	0	0	0	5816	1087	38	1	58	1	FCN1	9	137801699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24504	137801699	3411732	10610	20927											
FCN1	2219	broad.mit.edu	37	chr9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcaggaaatacccccGgtctagcaggtccttgcagt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(370-372)Cgg>Tgg		ficolin (collagen/fibrinogen domain containing) 1							44	42	43					9																	137804960		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804960G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.370C>T	9.37:g.137804960G>A	ENSP00000360871:p.Arg124Trp						p.R124W	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	6	461	-		Myeloproliferative disorder(178;0.0333)	124			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.370C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567818	0.45798	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.78126	-1.15	3.39	-0.646	0.11472	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.85635	0.5742	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.54965	0.765	T	0.77907	-0.2412	9	0.87932	D	0	.	11.0246	0.47739	0.0:0.0:0.5173:0.4827	.	124	O00602	FCN1_HUMAN	W	124;124;112	ENSP00000360871:R124W	ENSP00000308877:R112W	R	-	1	2	FCN1	136944781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.115000	0.11915	-0.287000	0.09952	CGG		0.682	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		26	124	0	0	0	1	0	26	124					A	137804960	G	A	137804960	3	1	79	1	0	0	0	0	1	0	0	0	5816	1115	39	1	626	1	FCN1	9	137804960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3261	137804960	3408471	10611	20928											
OLFM1	10439	broad.mit.edu	37	chr9	137990133	137990133	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttattttaaccttgcaggCgataaaagcgaaaatggatg	10	6	0	0	rs367620749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000371793.3	+	4	709	c.458C>T	c.(457-459)gCg>gTg	p.A153V	OLFM1_ENST00000371796.3_Splice_Site_p.A126V|OLFM1_ENST00000252854.4_Splice_Site_p.A135V	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	153					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTTGCAGGCGATAAAAGCG	0.468																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.e4-1		olfactomedin 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	82	78	79		404	5.1	1	9		79	0,8598		0,0,4299	no	missense-near-splice	OLFM1	NM_014279.4	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	135/468	137990133	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137990133C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.457-1C>T	9.37:g.137990133C>T						OLFM1_ENST00000371793.3_Splice_Site_p.A153_splice|OLFM1_ENST00000371796.3_Splice_Site_p.A126_splice	p.A135_splice	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	4	591	+		Myeloproliferative disorder(178;0.0333)	153					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Splice_Site	SNP	ENST00000371793.3	37	c.402_splice		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216445	0.58452	2.27E-4	0.0	ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	D;T;D;T;D;D	0.87103	-2.21;1.44;-2.21;0.45;-2.21;-1.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	N	0.19112	0.55	0.80722	D	1	P;B	0.39862	0.692;0.375	B;B	0.36808	0.233;0.104	T	0.81994	-0.0677	10	0.48119	T	0.1	.	18.9219	0.92529	0.0:1.0:0.0:0.0	.	153;135	Q99784;Q6IMJ8	NOE1_HUMAN;.	V	135;142;126;70;153;50	ENSP00000252854:A135V;ENSP00000340318:A142V;ENSP00000360861:A126V;ENSP00000444296:A70V;ENSP00000360858:A153V;ENSP00000443806:A50V	ENSP00000252854:A135V	A	+	2	0	OLFM1	137129954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.695000	0.68279	2.546000	0.85860	0.637000	0.83480	GCG		0.468	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	Missense_Mutation	25	202	0	0	0	1	0	25	202					T	137990133	C	T	137990133	5	4	79	1	0	0	0	0	0	0	1	0	10894	782	27	1	428	1	OLFM1	9	137990133	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185173	137990133	3223298	10612	20929											
OLFM1	10439	broad.mit.edu	37	chr9	137998692	137998692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctctcgcccctgaaggCgataaccgggtgagtgtccc	12	15	1	2	rs557820013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000371793.3	+	5	1025	c.774C>T	c.(772-774)ggC>ggT	p.G258G	OLFM1_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000252854.4_Silent_p.G240G	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	258	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCCTGAAGGCGATAACCGGG	0.617																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(718-720)ggC>ggT		olfactomedin 1							57	49	52					9																	137998692		2202	4300	6502	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137998692C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.774C>T	9.37:g.137998692C>T						OLFM1_ENST00000371793.3_Silent_p.G258G|OLFM1_ENST00000371796.3_Silent_p.G231G	p.G240G	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	5	907	+		Myeloproliferative disorder(178;0.0333)	258			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.720C>T																																																																																					0.617	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		14	69	0	0	0	1	0	14	69					T	137998692	C	T	137998692	2	4	79	1	0	0	0	0	0	0	0	1	10894	755	27	1		1	OLFM1	9	137998692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8559	137998692	3214739	10613	20930											
KIAA0649	9858	broad.mit.edu	37	chr9	138377010	138377010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggtcagtgtgagcagCgatgactccttcgagcagag	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377010C>T	ENST00000356818.2	+	4	1203	c.654C>T	c.(652-654)agC>agT	p.S218S	PPP1R26_ENST00000401470.3_Silent_p.S218S|PPP1R26_ENST00000605660.1_Silent_p.S218S|PPP1R26_ENST00000604351.1_Silent_p.S218S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S218S	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	218					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GTGTGAGCAGCGATGACTCCT	0.562																																						ENST00000356818.2																			0											c.(652-654)agC>agT		protein phosphatase 1, regulatory subunit 26							62	71	68					9																	138377010		2203	4299	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377010C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.654C>T	9.37:g.138377010C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.S218S|PPP1R26_ENST00000605286.1_Silent_p.S218S|PPP1R26_ENST00000604351.1_Silent_p.S218S|PPP1R26_ENST00000401470.3_Silent_p.S218S	p.S218S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1203	+			218					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.654C>T	CCDS6988.1																																																																																				0.562	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		100	546	0	0	0	1	0	100	546					T	138377010	C	T	138377010	2	4	79	1	0	0	0	0	0	0	0	1	8217	767	27	1		1	KIAA0649	9	138377010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378318	138377010	2836421	10614	20931											
KIAA0649	9858	broad.mit.edu	37	chr9	138377508	138377508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaacacgcaaggaggcCgacggggacctgccccagag	14	13	0	2	rs189393888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377508C>T	ENST00000356818.2	+	4	1701	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	PPP1R26_ENST00000401470.3_Silent_p.A384A|PPP1R26_ENST00000605660.1_Silent_p.A384A|PPP1R26_ENST00000604351.1_Silent_p.A384A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.A384A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	384					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCAAGGAGGCCGACGGGGACC	0.637																																						ENST00000356818.2																			0											c.(1150-1152)gcC>gcT		protein phosphatase 1, regulatory subunit 26							37	42	40					9																	138377508		2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377508C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1152C>T	9.37:g.138377508C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.A384A|PPP1R26_ENST00000605286.1_Silent_p.A384A|PPP1R26_ENST00000604351.1_Silent_p.A384A|PPP1R26_ENST00000401470.3_Silent_p.A384A	p.A384A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1701	+			384					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1152C>T	CCDS6988.1																																																																																				0.637	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		77	320	0	0	0	1	0	77	320					T	138377508	C	T	138377508	2	4	79	1	0	0	0	0	0	0	0	1	8217	639	23	1		1	KIAA0649	9	138377508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498	138377508	2835923	10615	20932											
KIAA0649	9858	broad.mit.edu	37	chr9	138378979	138378979	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggggcccagccaggccaGaggtgctgtgcaggaaggag	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138378979G>T	ENST00000356818.2	+	4	3172	c.2623G>T	c.(2623-2625)Gag>Tag	p.E875*	PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E875*	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	875					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGCCAGGCCAGAGGTGCTGTG	0.652																																						ENST00000356818.2																			0											c.(2623-2625)Gag>Tag		protein phosphatase 1, regulatory subunit 26							31	38	36					9																	138378979		2169	4276	6445	SO:0001587	stop_gained	9858					nucleolus	protein binding	g.chr9:138378979G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2623G>T	9.37:g.138378979G>T	ENSP00000349274:p.Glu875*					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E875*	p.E875*	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3172	+			875					Q86WU0|Q8WVV0|Q9Y4D3	Nonsense_Mutation	SNP	ENST00000356818.2	37	c.2623G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	44	11.162334	0.99525	.	.	ENSG00000196422	ENST00000356818	.	.	.	4.62	4.62	0.57501	.	0.388892	0.22443	N	0.059994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-27.089	8.8504	0.35196	0.1041:0.0:0.8959:0.0	.	.	.	.	X	875	.	ENSP00000349274:E875X	E	+	1	0	KIAA0649	137518800	0.902000	0.30710	0.096000	0.21009	0.453000	0.32348	2.234000	0.43035	2.132000	0.65825	0.462000	0.41574	GAG		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	549	1	0	3.07112e-06	1	3.16074e-06	10	549					T	138378979	G	T	138378979	4	4	79	1	0	0	0	0	0	1	0	0	8217	943	33	3	2625	3	KIAA0649	9	138378979	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1471	138378979	2834452	10616	20933											
KIAA0649	9858	broad.mit.edu	37	chr9	138379085	138379085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcgaggcacagagaGcgcaggagcacagggcacag	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379085G>T	ENST00000356818.2	+	4	3278	c.2729G>T	c.(2728-2730)aGc>aTc	p.S910I	PPP1R26_ENST00000401470.3_Missense_Mutation_p.S910I|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S910I	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	910					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCACAGAGAGCGCAGGAGCA	0.706																																						ENST00000356818.2																			0											c.(2728-2730)aGc>aTc		protein phosphatase 1, regulatory subunit 26							35	43	41					9																	138379085		2095	4091	6186	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379085G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2729G>T	9.37:g.138379085G>T	ENSP00000349274:p.Ser910Ile					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S910I	p.S910I	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3278	+			910					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2729G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489394	0.44249	.	.	ENSG00000196422	ENST00000356818	T	0.10099	2.91	4.33	2.05	0.26809	.	0.874319	0.09781	N	0.756616	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	P	0.35982	0.531	B	0.34242	0.178	T	0.33394	-0.9870	10	0.51188	T	0.08	-4.4148	8.6767	0.34183	0.2301:0.0:0.7699:0.0	.	910	Q5T8A7	PPR26_HUMAN	I	910	ENSP00000349274:S910I	ENSP00000349274:S910I	S	+	2	0	KIAA0649	137518906	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.447000	0.21710	0.807000	0.34208	0.462000	0.41574	AGC		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		128	448	1	0	1.95558e-62	1	2.46474e-62	128	448					T	138379085	G	T	138379085	3	4	79	1	0	0	0	0	1	0	0	0	8217	971	34	3	2731	3	KIAA0649	9	138379085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	138379085	2834346	10617	20934											
KIAA0649	9858	broad.mit.edu	37	chr9	138379635	138379635	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccactttggaaagggtgtCtcctgggggggcaggcaggc	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379635C>A	ENST00000356818.2	+	4	3828	c.3279C>A	c.(3277-3279)gtC>gtA	p.V1093V	PPP1R26_ENST00000401470.3_Silent_p.V1093V|PPP1R26_ENST00000605660.1_Silent_p.V1093V|PPP1R26_ENST00000604351.1_Silent_p.V1093V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.V1093V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1093					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GAAAGGGTGTCTCCTGGGGGG	0.721																																						ENST00000356818.2																			0											c.(3277-3279)gtC>gtA		protein phosphatase 1, regulatory subunit 26							5	7	7					9																	138379635		1695	3671	5366	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379635C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3279C>A	9.37:g.138379635C>A						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.V1093V|PPP1R26_ENST00000605286.1_Silent_p.V1093V|PPP1R26_ENST00000604351.1_Silent_p.V1093V|PPP1R26_ENST00000401470.3_Silent_p.V1093V	p.V1093V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3828	+			1093					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.3279C>A	CCDS6988.1																																																																																				0.721	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		9	57	1	0	1.12685e-05	1	1.15515e-05	9	57					A	138379635	C	A	138379635	2	1	79	1	0	0	0	0	0	0	0	1	8217	900	32	3		3	KIAA0649	9	138379635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	550	138379635	2833796	10618	20935											
MRPS2	51116	broad.mit.edu	37	chr9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatctacttccccccaggtGcccgggccccgtcgcgctgg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T|C9orf116_ENST00000371791.1_Intron|RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371789.3_5'Flank|C9orf116_ENST00000429260.2_5'Flank|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	16					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(46-48)Gcc>Acc		mitochondrial ribosomal protein S2							13	16	15					9																	138392846		2172	4246	6418	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138392846G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.46G>A	9.37:g.138392846G>A	ENSP00000360850:p.Ala16Thr					C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T	p.A16T			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	3	255	+			16					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.46G>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389307	0.42410	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.36699	1.91;1.91;1.24	3.64	-1.15	0.09709	.	1.354340	0.05382	U	0.537332	T	0.22244	0.0536	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16276	-1.0408	10	0.11485	T	0.65	-4.5501	0.4291	0.00468	0.2622:0.1978:0.3387:0.2013	.	16	Q9Y399	RT02_HUMAN	T	16;16;30	ENSP00000360850:A16T;ENSP00000241600:A16T;ENSP00000400082:A30T	ENSP00000241600:A16T	A	+	1	0	MRPS2	137532667	0.094000	0.21725	0.011000	0.14972	0.102000	0.19082	0.105000	0.15333	-0.091000	0.12440	0.484000	0.47621	GCC		0.716	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			45	146	0	0	0	1	0	45	146					A	138392846	G	A	138392846	3	1	79	1	0	0	0	0	1	0	0	0	9872	1319	46	2	52	2	MRPS2	9	138392846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13211	138392846	2820585	10619	20936											
MRPS2	51116	broad.mit.edu	37	chr9	138395463	138395463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacagacagccacgcacctCcagctggccttgaacttcac	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MRPS2_ENST00000241600.5_Silent_p.L125L|C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	125					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(373-375)ctC>ctT		mitochondrial ribosomal protein S2							118	88	98					9																	138395463		2203	4300	6503	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395463C>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.375C>T	9.37:g.138395463C>T						MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA	p.L125L			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	584	+			125					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.375C>T	CCDS6990.1																																																																																				0.567	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			36	267	0	0	0	1	0	36	267					T	138395463	C	T	138395463	2	4	79	1	0	0	0	0	0	0	0	1	9872	842	30	2		2	MRPS2	9	138395463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2617	138395463	2817968	10620	20937											
MRPS2	51116	broad.mit.edu	37	chr9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcgctacttcaggggcGgcatgctgaccaacgcgcgc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	174					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(520-522)Ggc>Agc		mitochondrial ribosomal protein S2							58	54	56					9																	138395608		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395608G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.520G>A	9.37:g.138395608G>A	ENSP00000360850:p.Gly174Ser					MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|RP11-426A6.5_ENST00000415062.1_RNA	p.G174S			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	729	+			174					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.520G>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579148	0.86645	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.78816	-1.21;-1.21;-1.21	4.56	3.66	0.41972	Ribosomal protein S2, flavodoxin-like domain (1);	0.051133	0.85682	D	0.000000	D	0.91703	0.7377	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.93279	0.6658	10	0.87932	D	0	-49.8301	11.7384	0.51778	0.0857:0.0:0.9143:0.0	.	188;174	Q5T8A0;Q9Y399	.;RT02_HUMAN	S	174;174;188	ENSP00000360850:G174S;ENSP00000241600:G174S;ENSP00000400082:G188S	ENSP00000241600:G174S	G	+	1	0	MRPS2	137535429	1.000000	0.71417	0.957000	0.39632	0.740000	0.42216	8.540000	0.90641	1.140000	0.42260	0.585000	0.79938	GGC		0.582	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			48	233	0	0	0	1	0	48	233					A	138395608	G	A	138395608	3	1	79	1	0	0	0	0	1	0	0	0	9872	1116	39	1	534	1	MRPS2	9	138395608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	138395608	2817823	10621	20938											
GLT6D1	360203	broad.mit.edu	37	chr9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgtcatgaataactcCgttcagatattctttgatga	7	6	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(745-747)Gga>Aga		glycosyltransferase 6 domain containing 1							148	146	146					9																	138516029		1843	4101	5944	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516029C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.745G>A	9.37:g.138516029C>T	ENSP00000360829:p.Gly249Arg						p.G249R	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	998	-		Myeloproliferative disorder(178;0.0821)	249						Missense_Mutation	SNP	ENST00000371763.1	37	c.745G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	10.80	1.453806	0.26161	.	.	ENSG00000204007	ENST00000371763	T	0.01406	4.93	2.8	-1.55	0.08558	.	0.488677	0.19103	N	0.122652	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	D	0.67145	0.996	P	0.49012	0.598	T	0.35076	-0.9803	10	0.59425	D	0.04	-16.6457	4.0427	0.09758	0.1646:0.5121:0.0:0.3233	.	249	Q7Z4J2	GL6D1_HUMAN	R	249	ENSP00000360829:G249R	ENSP00000360829:G249R	G	-	1	0	GLT6D1	137655850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.663000	0.25053	-0.360000	0.08138	-2.026000	0.00426	GGA		0.383	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		97	457	0	0	0	1	0	97	457					T	138516029	C	T	138516029	3	4	79	1	0	0	0	0	1	0	0	0	6497	661	23	1	89	1	GLT6D1	9	138516029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120421	138516029	2697402	10622	20939											
GLT6D1	360203	broad.mit.edu	37	chr9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctggatgtgactggCgatgtgttcacccaggctct	12	12	2	1	rs200843676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	159					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.A159T(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGTGACTGGCGATGTGTTCA	0.592																																						ENST00000371763.1																			1	Substitution - Missense(1)	p.A159T(1)	endometrium(1)	endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(475-477)Gcc>Acc		glycosyltransferase 6 domain containing 1							44	46	45					9																	138516299		1995	4161	6156	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516299C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.475G>A	9.37:g.138516299C>T	ENSP00000360829:p.Ala159Thr						p.A159T	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	728	-		Myeloproliferative disorder(178;0.0821)	159						Missense_Mutation	SNP	ENST00000371763.1	37	c.475G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175931	0.01646	.	.	ENSG00000204007	ENST00000371763	T	0.01246	5.11	3.49	-6.99	0.01605	.	2.131500	0.02486	N	0.088984	T	0.01421	0.0046	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43925	-0.9361	10	0.11182	T	0.66	-4.1633	6.7334	0.23395	0.1521:0.4874:0.2584:0.1022	.	159	Q7Z4J2	GL6D1_HUMAN	T	159	ENSP00000360829:A159T	ENSP00000360829:A159T	A	-	1	0	GLT6D1	137656120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-4.466000	0.00047	-1.708000	0.00717	GCC		0.592	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		10	207	0	0	0	1	0	10	207					T	138516299	C	T	138516299	3	4	79	1	0	0	0	0	1	0	0	0	6497	768	27	1	359	1	GLT6D1	9	138516299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	138516299	2697132	10623	20940											
GLT6D1	360203	broad.mit.edu	37	chr9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatattccgccttctgTaatgtttttccaggacccgc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	70					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCGCCTTCTGTAATGTTTTTC	0.498																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(208-210)tAc>tGc		glycosyltransferase 6 domain containing 1							81	85	83					9																	138517963		1896	4102	5998	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138517963T>C	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.209A>G	9.37:g.138517963T>C	ENSP00000360829:p.Tyr70Cys						p.Y70C	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	462	-		Myeloproliferative disorder(178;0.0821)	70						Missense_Mutation	SNP	ENST00000371763.1	37	c.209A>G	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363151	0.41902	.	.	ENSG00000204007	ENST00000371763	T	0.01871	4.59	4.18	3.0	0.34707	.	0.135912	0.34223	N	0.004144	T	0.11281	0.0275	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03278	-1.1053	10	0.87932	D	0	-33.1822	7.0578	0.25109	0.3636:0.0:0.0:0.6364	.	70	Q7Z4J2	GL6D1_HUMAN	C	70	ENSP00000360829:Y70C	ENSP00000360829:Y70C	Y	-	2	0	GLT6D1	137657784	0.854000	0.29725	0.011000	0.14972	0.006000	0.05464	1.747000	0.38298	0.739000	0.32628	0.496000	0.49642	TAC		0.498	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		53	307	0	0	0	1	0	53	307					C	138517963	T	C	138517963	3	2	79	1	0	0	0	0	1	0	0	0	6497	1638	57	4	629	4	GLT6D1	9	138517963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	138517963	2695468	10624	20941											
LCN9	392399	broad.mit.edu	37	chr9	138557549	138557549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatttgaagaaacctgCgaaaagtacggacttggctc	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(424-426)tgC>tgT		lipocalin 9							44	44	44					9																	138557549		1925	4121	6046	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557549C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T						LCN9_ENST00000430290.2_3'UTR	p.C142C	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	5	426	+		Myeloproliferative disorder(178;0.0821)	142					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.426C>T	CCDS56593.1																																																																																				0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		19	83	0	0	0	1	0	19	83					T	138557549	C	T	138557549	2	4	79	1	0	0	0	0	0	0	0	1	8718	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39586	138557549	2655882	10625	20942											
LCN9	392399	broad.mit.edu	37	chr9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaggagcccgcccaggcCtcccatgcgtgagctgcgac	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	172						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCGCCCAGGCCTCCCATGCGT	0.687																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(514-516)cCt>cTt		lipocalin 9							20	23	22					9																	138557746		1928	4125	6053	SO:0001583	missense	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557746C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.515C>T	9.37:g.138557746C>T	ENSP00000277526:p.Pro172Leu					LCN9_ENST00000430290.2_3'UTR	p.P172L	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	6	515	+		Myeloproliferative disorder(178;0.0821)	172					C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	c.515C>T	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721389	0.15372	.	.	ENSG00000148386	ENST00000277526	T	0.20200	2.09	2.68	-1.14	0.09741	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39800	-0.9596	9	0.06891	T	0.86	.	4.6366	0.12527	0.0:0.4144:0.4294:0.1562	.	172	Q8WX39	LCN9_HUMAN	L	172	ENSP00000277526:P172L	ENSP00000277526:P186L	P	+	2	0	LCN9	137697567	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.431000	0.07307	-0.802000	0.03209	CCT		0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		7	99	0	0	0	1	0	7	99					T	138557746	C	T	138557746	3	4	79	1	0	0	0	0	1	0	0	0	8718	681	24	2	537	2	LCN9	9	138557746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	138557746	2655685	10626	20943											
SOHLH1	402381	broad.mit.edu	37	chr9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggaccagccctgaaccCagggccccactcacccggcc	13	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCTGAACCCAGGGCCCCAC	0.647																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(961-963)Ggg>Agg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							55	52	53					9																	138586218		2203	4298	6501	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586218C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.961G>A	9.37:g.138586218C>T	ENSP00000298466:p.Gly321Arg					SOHLH1_ENST00000425225.1_Intron	p.G321R	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	1021	-		Myeloproliferative disorder(178;0.0511)	321					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.961G>A	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522289	0.13066	.	.	ENSG00000165643	ENST00000298466	T	0.42513	0.97	1.82	1.82	0.25136	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.35923	0.528	B	0.25884	0.064	T	0.09952	-1.0651	9	0.08599	T	0.76	.	7.183	0.25784	0.0:1.0:0.0:0.0	.	321	Q5JUK2	SOLH1_HUMAN	R	321	ENSP00000298466:G321R	ENSP00000298466:G321R	G	-	1	0	SOHLH1	137726039	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	-1.355000	0.02612	1.331000	0.45412	0.442000	0.29010	GGG		0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		28	200	0	0	0	1	0	28	200					T	138586218	C	T	138586218	3	4	79	1	0	0	0	0	1	0	0	0	14973	594	21	2	251	2	SOHLH1	9	138586218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28472	138586218	2627213	10627	20944											
KCNT1	57582	broad.mit.edu	37	chr9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcttctgcaccctgCtgtgcctcgttttcacgggg	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000263604.3	+	10	778	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	260					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(835-837)Ctg>Atg		potassium channel, subfamily T, member 1							239	183	202					9																	138650335		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138650335C>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.778C>A	9.37:g.138650335C>A	ENSP00000263604:p.Leu260Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000263604.3_Missense_Mutation_p.L260M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M	p.L279M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	10	909	+		Myeloproliferative disorder(178;0.0821)	279					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.835C>A		.	.	.	.	.	.	.	.	.	.	C	15.28	2.786275	0.49997	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.38560	1.6;1.13;1.13;1.13;1.13	4.58	3.44	0.39384	Ion transport 2 (1);	0.098778	0.42420	U	0.000702	T	0.57286	0.2043	M	0.68952	2.095	0.52099	D	0.999949	P;P;D;P	0.56035	0.767;0.607;0.974;0.607	P;P;P;P	0.61800	0.588;0.507;0.894;0.61	T	0.62718	-0.6795	10	0.72032	D	0.01	-27.2141	12.5974	0.56478	0.0:0.9008:0.0:0.0992	.	246;279;231;260	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	231;279;279;226;240;246;260;260;260	ENSP00000417851:L231M;ENSP00000298480:L279M;ENSP00000360822:L279M;ENSP00000420764:L226M;ENSP00000263604:L260M	ENSP00000263604:L260M	L	+	1	2	KCNT1	137790156	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.960000	0.40422	2.086000	0.62901	0.313000	0.20887	CTG		0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		92	353	1	0	2.78983e-34	1	3.31651e-34	92	353					A	138650335	C	A	138650335	3	1	79	1	0	0	0	0	1	0	0	0	8121	796	28	3	873	3	KCNT1	9	138650335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64117	138650335	2563096	10628	20945											
KCNT1	57582	broad.mit.edu	37	chr9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccggagcagtggcagCgcatgtatgggcgctgctcc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000263604.3	+	17	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	532	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1651-1653)Cgc>Tgc		potassium channel, subfamily T, member 1							55	47	50					9																	138662175		2202	4300	6502	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662175C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1594C>T	9.37:g.138662175C>T	ENSP00000263604:p.Arg532Cys					KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R532C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C	p.R551C			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	17	1725	+		Myeloproliferative disorder(178;0.0821)	551					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1651C>T		.	.	.	.	.	.	.	.	.	.	C	18.25	3.583234	0.65992	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.24	3.25	0.37280	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.882;0.997;0.997	P;B;P;P	0.61658	0.892;0.418;0.827;0.892	T	0.56007	-0.8050	10	0.87932	D	0	-16.3187	7.8272	0.29322	0.2883:0.5633:0.1484:0.0	.	518;551;506;532	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	506;551;551;512;518;532;532;532	ENSP00000417851:R506C;ENSP00000298480:R551C;ENSP00000360822:R551C;ENSP00000263604:R532C	ENSP00000263604:R532C	R	+	1	0	KCNT1	137801996	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.689000	0.37700	1.923000	0.55706	0.585000	0.79938	CGC		0.677	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		62	275	0	0	0	1	0	62	275					T	138662175	C	T	138662175	3	4	79	1	0	0	0	0	1	0	0	0	8121	768	27	1	1717	1	KCNT1	9	138662175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11840	138662175	2551256	10629	20946											
KCNT1	57582	broad.mit.edu	37	chr9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagctgaaccccatcGtgctgctgctggacaacaag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000263604.3	+	21	2446	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	816					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2503-2505)Gtg>Atg		potassium channel, subfamily T, member 1							61	52	55					9																	138669337		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669337G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2446G>A	9.37:g.138669337G>A	ENSP00000263604:p.Val816Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V816M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M	p.V835M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2577	+		Myeloproliferative disorder(178;0.0821)	835					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2503G>A		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886606	0.51908	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.82116	0.4967	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;P	0.58268	0.97;0.97;0.982;0.881	B;B;P;B	0.45794	0.298;0.393;0.493;0.221	D	0.86747	0.1958	10	0.72032	D	0.01	-15.4357	16.9291	0.86184	0.0:0.0:1.0:0.0	.	802;835;790;816	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	790;835;835;794;802;816;814;816	ENSP00000417851:V790M;ENSP00000298480:V835M;ENSP00000360822:V835M;ENSP00000263604:V816M	ENSP00000263604:V816M	V	+	1	0	KCNT1	137809158	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.639000	0.98448	1.971000	0.57363	0.555000	0.69702	GTG		0.657	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		46	192	0	0	0	1	0	46	192					A	138669337	G	A	138669337	3	1	79	1	0	0	0	0	1	0	0	0	8121	1145	40	1	2585	1	KCNT1	9	138669337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7162	138669337	2544094	10630	20947											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712706	138712706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaagaagccgaccccCggcttctggtcgccttcgct	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000409386.3_Silent_p.P1278P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1267					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCCGACCCCCGGCTTCTGGT	0.572																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3799-3801)ccG>ccA		calmodulin regulated spectrin-associated protein 1							43	47	45					9																	138712706		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138712706C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3801G>A	9.37:g.138712706C>T						CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000312405.6_Silent_p.P989P	p.P1267P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3865	-			1267					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3801G>A	CCDS35176.2																																																																																				0.572	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		15	354	0	0	0	1	0	15	354					T	138712706	C	T	138712706	2	4	79	1	0	0	0	0	0	0	0	1	2618	639	23	1		1	CAMSAP1	9	138712706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43369	138712706	2500725	10631	20948											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgacagtggtcctgtctCggtggggtcgatgcccatgg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCTGTCTCGGTGGGGTCG	0.582																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1996-1998)Gag>Aag		calmodulin regulated spectrin-associated protein 1							47	50	49					9																	138714511		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714511C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1996G>A	9.37:g.138714511C>T	ENSP00000374183:p.Glu666Lys					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K	p.E666K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2060	-			666					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1996G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304212	0.60305	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14640	2.5;2.49;2.5	5.17	5.17	0.71159	.	1.161590	0.06569	N	0.748121	T	0.12774	0.0310	N	0.22421	0.69	0.51233	D	0.999914	P;P	0.48230	0.85;0.907	B;B	0.34652	0.125;0.187	T	0.47947	-0.9077	10	0.87932	D	0	-4.9181	18.6807	0.91545	0.0:1.0:0.0:0.0	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	666;388;677	ENSP00000374183:E666K;ENSP00000312463:E388K;ENSP00000386420:E677K	ENSP00000312463:E388K	E	-	1	0	CAMSAP1	137854332	0.998000	0.40836	0.191000	0.23289	0.004000	0.04260	5.019000	0.64060	2.403000	0.81681	0.655000	0.94253	GAG		0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		38	163	0	0	0	1	0	38	163					T	138714511	C	T	138714511	3	4	79	1	0	0	0	0	1	0	0	0	2618	893	31	1	2840	1	CAMSAP1	9	138714511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	138714511	2498920	10632	20949											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggcccggggtgaggccCtggggaactccgggtcagcc	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	561					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGTGAGGCCCTGGGGAACTC	0.567																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1681-1683)aGg>aTg		calmodulin regulated spectrin-associated protein 1							133	147	142					9																	138714825		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714825C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1682G>T	9.37:g.138714825C>A	ENSP00000374183:p.Arg561Met					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M	p.R561M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1746	-			561					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1682G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549591	0.13374	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	3.66	3.66	0.41972	.	0.749151	0.12663	N	0.449442	T	0.16257	0.0391	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.79;0.944	B;P	0.47981	0.365;0.563	T	0.08166	-1.0735	10	0.87932	D	0	-38.7949	9.8064	0.40795	0.0:0.8848:0.0:0.1152	.	561;572	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	561;283;572	ENSP00000374183:R561M;ENSP00000312463:R283M;ENSP00000386420:R572M	ENSP00000312463:R283M	R	-	2	0	CAMSAP1	137854646	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	1.419000	0.34793	1.575000	0.49775	0.655000	0.94253	AGG		0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		153	926	1	0	3.78446e-69	1	4.80127e-69	153	926					A	138714825	C	A	138714825	3	1	79	1	0	0	0	0	1	0	0	0	2618	681	24	3	3154	3	CAMSAP1	9	138714825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314	138714825	2498606	10633	20950											
NACC2	138151	broad.mit.edu	37	chr9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgttggccagcGtgttcctggtggagggaccg	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000277554.2_Missense_Mutation_p.T388M|NACC2_ENST00000467669.1_5'Flank			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667																																						ENST00000371753.1																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(1162-1164)aCg>aTg		NACC family member 2, BEN and BTB (POZ) domain containing							43	47	46					9																	138905137		2202	4296	6498	SO:0001583	missense	138151				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		g.chr9:138905137G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1163C>T	9.37:g.138905137G>A	ENSP00000360818:p.Thr388Met					NACC2_ENST00000277554.2_Missense_Mutation_p.T388M	p.T388M			Q96BF6	NACC2_HUMAN			4	1221	-			388			BEN.			Missense_Mutation	SNP	ENST00000371753.1	37	c.1163C>T	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600576	0.87055	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.61525	-0.7045	10	0.66056	D	0.02	.	18.7284	0.91724	0.0:0.0:1.0:0.0	.	388	Q96BF6	NACC2_HUMAN	M	388	ENSP00000360818:T388M;ENSP00000277554:T388M	ENSP00000277554:T388M	T	-	2	0	NACC2	138044958	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	9.618000	0.98365	2.670000	0.90874	0.655000	0.94253	ACG		0.667	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		74	335	0	0	0	1	0	74	335					A	138905137	G	A	138905137	3	1	79	1	0	0	0	0	1	0	0	0	10177	1145	40	1	608	1	NACC2	9	138905137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190312	138905137	2308294	10634	20951											
C9orf69	90120	broad.mit.edu	37	chr9	139008678	139008678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcacgggcccgcaggcCgcatgcaggcaggtggtgtg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	ENST00000418388.1	-	2	571	c.69G>A	c.(67-69)gcG>gcA	p.A23A	C9orf69_ENST00000561457.1_Missense_Mutation_p.R48Q			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	23					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCCGCAGGCCGCATGCAGGC	0.701																																						ENST00000561457.1																			0				endometrium(1)	1						c.(142-144)cGg>cAg		chromosome 9 open reading frame 69							29	33	32					9																	139008678		1931	4095	6026	SO:0001819	synonymous_variant	90120							g.chr9:139008678C>T		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.69G>A	9.37:g.139008678C>T						C9orf69_ENST00000418388.1_Silent_p.A23A	p.R48Q	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	593	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.143G>A	CCDS59155.1																																																																																				0.701	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		19	127	0	0	0	1	0	19	127					T	139008678	C	T	139008678	2	4	79	1	0	0	0	0	0	0	0	1	2499	652	23	1		1	C9orf69	9	139008678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103541	139008678	2204753	10635	20952											
LHX3	8022	broad.mit.edu	37	chr9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggacgagagctgctcgCgcacgtggcgcgccggcttg	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371748.5	-	4	656	c.560G>A	c.(559-561)cGc>cAc	p.R187H	LHX3_ENST00000371746.3_Missense_Mutation_p.R192H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	187					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(574-576)cGc>cAc		LIM homeobox 3							15	17	16					9																	139090800		2188	4278	6466	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090800C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.560G>A	9.37:g.139090800C>T	ENSP00000360813:p.Arg187His					LHX3_ENST00000371748.5_Missense_Mutation_p.R187H	p.R192H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	693	-		Myeloproliferative disorder(178;0.0511)	187					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.575G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323870	0.95708	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.97529	-4.42;-4.41	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068967	0.64402	D	0.000012	D	0.99064	0.9679	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98847	1.0757	10	0.87932	D	0	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	187;192	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	187;192;190	ENSP00000360813:R187H;ENSP00000360811:R192H	ENSP00000319224:R190H	R	-	2	0	LHX3	138230621	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.084000	0.76866	1.959000	0.56917	0.555000	0.69702	CGC		0.726	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			15	68	0	0	0	1	0	15	68					T	139090800	C	T	139090800	3	4	79	1	0	0	0	0	1	0	0	0	8804	768	27	1	645	1	LHX3	9	139090800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82122	139090800	2122631	10636	20953											
LHX3	8022	broad.mit.edu	37	chr9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtggtacacgaagtcCtgggcgcggcgcaccacctg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371748.5	-	3	417	c.321G>T	c.(319-321)caG>caT	p.Q107H	LHX3_ENST00000371746.3_Missense_Mutation_p.Q112H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	107	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(334-336)caG>caT		LIM homeobox 3							24	21	22					9																	139091657		2202	4298	6500	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091657C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.321G>T	9.37:g.139091657C>A	ENSP00000360813:p.Gln107His					LHX3_ENST00000371748.5_Missense_Mutation_p.Q107H	p.Q112H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	454	-		Myeloproliferative disorder(178;0.0511)	107			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.336G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348179	0.61183	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.35	2.34	0.29019	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	L	0.46670	1.46	0.80722	D	1	D;B	0.76494	0.999;0.094	D;B	0.71870	0.975;0.193	D	0.88054	0.2789	10	0.52906	T	0.07	.	10.3249	0.43787	0.0:0.8094:0.0:0.1906	.	107;112	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	107;112;110	ENSP00000360813:Q107H;ENSP00000360811:Q112H	ENSP00000319224:Q110H	Q	-	3	2	LHX3	138231478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.773000	0.38563	1.063000	0.40649	-0.221000	0.12465	CAG		0.706	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			25	109	1	0	4.26978e-12	1	4.57227e-12	25	109					A	139091657	C	A	139091657	3	1	79	1	0	0	0	0	1	0	0	0	8804	680	24	3	888	3	LHX3	9	139091657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	857	139091657	2121774	10637	20954											
QSOX2	169714	broad.mit.edu	37	chr9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaatccccctggtctgCggaatacgtgtctaagaggt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	573					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1717-1719)Gca>Aca		quiescin Q6 sulfhydryl oxidase 2							92	89	90					9																	139100954		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100954C>T	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1717G>A	9.37:g.139100954C>T	ENSP00000351536:p.Ala573Thr						p.A573T	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	1754	-		Myeloproliferative disorder(178;0.0511)	573					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1717G>A	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850954	0.51270	.	.	ENSG00000165661	ENST00000358701	T	0.17054	2.3	4.91	4.91	0.64330	.	1.152020	0.06417	N	0.721648	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	P	0.44006	0.824	B	0.25405	0.06	T	0.36359	-0.9751	10	0.09843	T	0.71	-2.7184	17.1404	0.86752	0.0:1.0:0.0:0.0	.	573	Q6ZRP7	QSOX2_HUMAN	T	573	ENSP00000351536:A573T	ENSP00000351536:A573T	A	-	1	0	QSOX2	138240775	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.791000	0.26915	2.258000	0.74832	0.558000	0.71614	GCA		0.572	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		77	380	0	0	0	1	0	77	380					T	139100954	C	T	139100954	3	4	79	1	0	0	0	0	1	0	0	0	12934	768	27	1	383	1	QSOX2	9	139100954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9297	139100954	2112477	10638	20955											
GPSM1	26086	broad.mit.edu	37	chr9	139229123	139229123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgacctcctgctggcGcggtgagtggggacggtcct	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000440944.1	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000392945.3_Silent_p.A96A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	96	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(286-288)gcG>gcA		G-protein signaling modulator 1							37	36	36					9																	139229123		2203	4300	6503	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139229123G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.288G>A	9.37:g.139229123G>A						GPSM1_ENST00000392945.3_Silent_p.A96A	p.A96A	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	508	+		Myeloproliferative disorder(178;0.0821)	96			Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.288G>A	CCDS48055.1																																																																																				0.682	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		40	249	0	0	0	1	0	40	249					A	139229123	G	A	139229123	2	1	79	1	0	0	0	0	0	0	0	1	6764	1074	38	1		1	GPSM1	9	139229123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128169	139229123	1984308	10639	20956											
GPSM1	26086	broad.mit.edu	37	chr9	139243186	139243186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgcagaggctgagcgcggaGacctgggacctgctgagact	16	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	415	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1243-1245)gaG>gaA		G-protein signaling modulator 1							49	48	48					9																	139243186		2198	4299	6497	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139243186G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1245G>A	9.37:g.139243186G>A							p.E415E	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	10	1465	+		Myeloproliferative disorder(178;0.0821)	415			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.1245G>A	CCDS48055.1																																																																																				0.677	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		25	108	0	0	0	1	0	25	108					A	139243186	G	A	139243186	2	1	79	1	0	0	0	0	0	0	0	1	6764	933	33	2		2	GPSM1	9	139243186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14063	139243186	1970245	10640	20957											
DNLZ	728489	broad.mit.edu	37	chr9	139256578	139256578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagttccagggccccctcGcccgccacacggtgcacctg	10	20	0	0	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371738.3	-	3	497	c.423C>T	c.(421-423)ggC>ggT	p.G141G	DNLZ_ENST00000371739.3_Nonsense_Mutation_p.R95*|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	141						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682																																						ENST00000371739.3																			0				central_nervous_system(1)|prostate(1)	2						c.(283-285)Cga>Tga		DNL-type zinc finger		G		1,4391		0,1,2195	21	27	25		423	-3.8	0	9	dbSNP_134	25	0,8588		0,0,4294	no	coding-synonymous	DNLZ	NM_001080849.1		0,1,6489	AA,AG,GG		0.0,0.0228,0.0077		141/179	139256578	1,12979	2196	4294	6490	SO:0001819	synonymous_variant	728489						metal ion binding	g.chr9:139256578G>A	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.423C>T	9.37:g.139256578G>A						DNLZ_ENST00000371738.3_Silent_p.G141G	p.R95*			Q5SXM8	DNLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	2	287	-		Myeloproliferative disorder(178;0.0821)	0					B2RUX5|B9EJE1	Nonsense_Mutation	SNP	ENST00000371738.3	37	c.283C>T	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014166	0.35511	2.28E-4	0.0	ENSG00000213221	ENST00000371739	.	.	.	4.15	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.23043	N	0.998385	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0189	6.9767	0.24679	0.5466:0.2312:0.2222:0.0	.	.	.	.	X	95	.	ENSP00000360804:R95X	R	-	1	2	DNLZ	138376399	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.821000	0.00749	-0.993000	0.03467	0.491000	0.48974	CGA		0.682	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	NM_001080849		25	168	0	0	0	1	0	25	168					A	139256578	G	A	139256578	2	1	79	1	0	0	0	0	0	0	0	1	4685	1074	38	1		1	DNLZ	9	139256578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13392	139256578	1956853	10641	20958											
CARD9	64170	broad.mit.edu	37	chr9	139262245	139262245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcaggccccgggcGtgctgtgcgtgcagctcctc	13	16	1	0	rs376357452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000371734.3_Silent_p.H371H|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	371					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1111-1113)caC>caT		caspase recruitment domain family, member 9		G	,	2,4386	2.1+/-5.4	0,2,2192	30	27	28		1113,1113	-7.4	0	9		28	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6480	AA,AG,GG		0.0,0.0456,0.0154	,	371/537,371/493	139262245	2,12962	2194	4288	6482	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262245G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1113C>T	9.37:g.139262245G>A						CARD9_ENST00000371734.3_Silent_p.H371H	p.H371H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1278	-		Myeloproliferative disorder(178;0.0511)	371					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1113C>T	CCDS6997.1																																																																																				0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		37	127	0	0	0	1	0	37	127					A	139262245	G	A	139262245	2	1	79	1	0	0	0	0	0	0	0	1	2659	1136	40	1		1	CARD9	9	139262245	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5667	139262245	1951186	10642	20959											
CARD9	64170	broad.mit.edu	37	chr9	139264220	139264220	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggtcccgctcaatggcGacctcctccatctgcagcag	9	17	2	0	rs371007197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000315908.7_Silent_p.V353V|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	353					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1057-1059)gtC>gtT		caspase recruitment domain family, member 9		G	,	2,4388	4.2+/-10.8	0,2,2193	106	70	82		1059,1059	-7.8	0	9		82	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6491	AA,AG,GG		0.0,0.0456,0.0154	,	353/537,353/493	139264220	2,12984	2195	4298	6493	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264220G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1059C>T	9.37:g.139264220G>A						CARD9_ENST00000315908.7_Silent_p.V353V|CARD9_ENST00000371734.3_Silent_p.V353V	p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	7	1224	-		Myeloproliferative disorder(178;0.0511)	353					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1059C>T	CCDS6997.1																																																																																				0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		16	78	0	0	0	1	0	16	78					A	139264220	G	A	139264220	2	1	79	1	0	0	0	0	0	0	0	1	2659	1045	37	1		1	CARD9	9	139264220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	139264220	1949211	10643	20960											
CARD9	64170	broad.mit.edu	37	chr9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctcctgcacccggGcctggagcagggccttctcc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	259					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(775-777)gCc>gAc		caspase recruitment domain family, member 9							17	16	17					9																	139265005		2189	4294	6483	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265005G>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.776C>A	9.37:g.139265005G>T	ENSP00000360797:p.Ala259Asp					CARD9_ENST00000315908.7_Missense_Mutation_p.A259D|CARD9_ENST00000371734.3_Missense_Mutation_p.A259D	p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	5	941	-		Myeloproliferative disorder(178;0.0511)	259					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.776C>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931385	0.52866	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33865	1.39;1.39;1.39	3.4	3.4	0.38934	.	0.156398	0.41396	D	0.000893	T	0.55878	0.1948	M	0.72894	2.215	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.988	T	0.55522	-0.8128	10	0.28530	T	0.3	-27.2828	14.3098	0.66407	0.0:0.0:1.0:0.0	.	155;259;259	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	D	259	ENSP00000360799:A259D;ENSP00000360797:A259D;ENSP00000323719:A259D	ENSP00000323719:A259D	A	-	2	0	CARD9	138384826	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	4.611000	0.61162	1.894000	0.54839	0.467000	0.42956	GCC		0.711	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		18	97	1	0	3.52763e-06	1	3.62938e-06	18	97					T	139265005	G	T	139265005	3	4	79	1	0	0	0	0	1	0	0	0	2659	1203	42	3	923	3	CARD9	9	139265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	785	139265005	1948426	10644	20961											
SNAPC4	6621	broad.mit.edu	37	chr9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcaggcactggaaggCgctgcggctggtcttcccag	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(988-990)Gcc>Acc		small nuclear RNA activating complex, polypeptide 4, 190kDa							103	88	93					9																	139283031		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139283031C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.988G>A	9.37:g.139283031C>T	ENSP00000298532:p.Ala330Thr						p.A330T	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	10	1356	-		Myeloproliferative disorder(178;0.0511)	330			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.988G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653575	0.67472	.	.	ENSG00000165684	ENST00000298532	T	0.32515	1.45	5.0	4.04	0.47022	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.118118	0.56097	D	0.000036	T	0.57388	0.2050	M	0.83483	2.645	0.42751	D	0.99377	D	0.89917	1.0	D	0.80764	0.994	T	0.65034	-0.6266	10	0.66056	D	0.02	-27.2109	14.2545	0.66043	0.0:0.7444:0.2556:0.0	.	330	Q5SXM2	SNPC4_HUMAN	T	330	ENSP00000298532:A330T	ENSP00000298532:A330T	A	-	1	0	SNAPC4	138402852	0.971000	0.33674	0.996000	0.52242	0.564000	0.35744	2.302000	0.43637	2.327000	0.79052	0.561000	0.74099	GCC		0.592	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		75	329	0	0	0	1	0	75	329					T	139283031	C	T	139283031	3	4	79	1	0	0	0	0	1	0	0	0	14887	768	27	1	3473	1	SNAPC4	9	139283031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18026	139283031	1930400	10645	20962											
SNAPC4	6621	broad.mit.edu	37	chr9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgccactccaggtggcCgtgtgcagccgcgatcgcct	12	16	1	0	rs372524659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(937-939)Ggc>Agc		small nuclear RNA activating complex, polypeptide 4, 190kDa		C	SER/GLY	0,4406		0,0,2203	58	57	57		937	4.3	1	9		57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC4	NM_003086.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	313/1470	139286432	1,13003	2203	4299	6502	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286432C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.937G>A	9.37:g.139286432C>T	ENSP00000298532:p.Gly313Ser						p.G313S	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1305	-		Myeloproliferative disorder(178;0.0511)	313			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.937G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241696	0.39598	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.27890	1.64	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.30262	0.0759	M	0.69185	2.1	0.26832	N	0.968556	D	0.55172	0.97	B	0.42738	0.396	T	0.40515	-0.9559	10	0.59425	D	0.04	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	S	313	ENSP00000298532:G313S	ENSP00000298532:G313S	G	-	1	0	SNAPC4	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		54	360	0	0	0	1	0	54	360					T	139286432	C	T	139286432	3	4	79	1	0	0	0	0	1	0	0	0	14887	652	23	1	3528	1	SNAPC4	9	139286432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3401	139286432	1926999	10646	20963											
PMPCA	23203	broad.mit.edu	37	chr9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttccagagacaccAccatgtatgctgtgtctgct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	149					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(445-447)Acc>Gcc		peptidase (mitochondrial processing) alpha							160	146	151					9																	139309012		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139309012A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.445A>G	9.37:g.139309012A>G	ENSP00000360782:p.Thr149Ala					PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	p.T149A	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	5	454	+		Myeloproliferative disorder(178;0.0821)	149					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.445A>G	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309660	0.60414	.	.	ENSG00000165688	ENST00000371717	T	0.24908	1.83	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050174	0.85682	D	0.000000	T	0.34832	0.0911	M	0.77486	2.375	0.80722	D	1	B;B;B	0.26318	0.146;0.057;0.057	B;B;B	0.29663	0.105;0.042;0.042	T	0.15896	-1.0421	10	0.51188	T	0.08	.	14.8413	0.70226	1.0:0.0:0.0:0.0	.	149;149;149	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	A	149	ENSP00000360782:T149A	ENSP00000360782:T149A	T	+	1	0	PMPCA	138428833	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.922000	0.92789	2.084000	0.62774	0.528000	0.53228	ACC		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		93	401	0	0	0	1	0	93	401					G	139309012	A	G	139309012	3	3	79	1	0	0	0	0	1	0	0	0	12182	159	6	4	463	4	PMPCA	9	139309012	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22580	139309012	1904419	10647	20964											
PMPCA	23203	broad.mit.edu	37	chr9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatccatgccagcgccgAcccaagacaggtgagggccc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	397					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCAGCGCCGACCCAAGACAG	0.652																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1189-1191)gAc>gGc		peptidase (mitochondrial processing) alpha							60	50	54					9																	139313360		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139313360A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1190A>G	9.37:g.139313360A>G	ENSP00000360782:p.Asp397Gly					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	p.D397G	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	10	1199	+		Myeloproliferative disorder(178;0.0821)	397					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1190A>G	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	a	12.48	1.949759	0.34377	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09445	2.98;2.98;2.98	5.2	5.2	0.72013	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.042704	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.32968	0.12;0.025;0.392;0.025	B;B;B;B	0.33960	0.126;0.056;0.173;0.056	T	0.26360	-1.0105	10	0.24483	T	0.36	.	14.2719	0.66157	1.0:0.0:0.0:0.0	.	266;397;105;397	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	G	397;266;105	ENSP00000360782:D397G;ENSP00000416702:D266G;ENSP00000408393:D105G	ENSP00000360782:D397G	D	+	2	0	PMPCA	138433181	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	7.014000	0.76380	1.964000	0.57103	0.529000	0.55759	GAC		0.652	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		9	224	0	0	0	1	0	9	224					G	139313360	A	G	139313360	3	3	79	1	0	0	0	0	1	0	0	0	12182	275	10	4	1228	4	PMPCA	9	139313360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	139313360	1900071	10648	20965											
INPP5E	56623	broad.mit.edu	37	chr9	139324245	139324245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctatcaaatttgccaGctgccaacggaatgctgtgg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139324245G>T	ENST00000371712.3	-	10	2219	c.1817C>A	c.(1816-1818)gCt>gAt	p.A606D		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAATTTGCCAGCTGCCAACGG	0.582																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1816-1818)gCt>gAt		inositol polyphosphate-5-phosphatase, 72 kDa							78	81	80					9																	139324245		2203	4300	6503	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139324245G>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1817C>A	9.37:g.139324245G>T	ENSP00000360777:p.Ala606Asp						p.A606D	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	10	2219	-		Myeloproliferative disorder(178;0.0511)	606					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1817C>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511380	0.85389	.	.	ENSG00000148384	ENST00000371712	D	0.97941	-4.62	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.935	D	0.99466	1.0944	10	0.72032	D	0.01	-15.3769	16.6228	0.84934	0.0:0.0:1.0:0.0	.	572;606	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	D	606	ENSP00000360777:A606D	ENSP00000360777:A606D	A	-	2	0	INPP5E	138444066	1.000000	0.71417	0.920000	0.36463	0.744000	0.42396	8.104000	0.89551	2.599000	0.87857	0.651000	0.88453	GCT		0.582	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		10	302	1	0	2.74318e-10	1	2.90674e-10	10	302					T	139324245	G	T	139324245	3	4	79	1	0	0	0	0	1	0	0	0	7787	971	34	3	121	3	INPP5E	9	139324245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10885	139324245	1889186	10649	20966											
INPP5E	56623	broad.mit.edu	37	chr9	139325493	139325493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggaggtgctgtcgtaCgtgtccttcccgatgtcaaa	12	10	1	0	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1624-1626)acG>acA		inositol polyphosphate-5-phosphatase, 72 kDa		C		0,4406		0,0,2203	245	153	184		1626	-0.8	1	9	dbSNP_134	184	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	INPP5E	NM_019892.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		542/645	139325493	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139325493C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1626G>A	9.37:g.139325493C>T							p.T542T	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	8	2028	-		Myeloproliferative disorder(178;0.0511)	542					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.1626G>A	CCDS7000.1																																																																																				0.617	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		48	203	0	0	0	1	0	48	203					T	139325493	C	T	139325493	2	4	79	1	0	0	0	0	0	0	0	1	7787	523	19	1		1	INPP5E	9	139325493	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1248	139325493	1887938	10650	20967											
INPP5E	56623	broad.mit.edu	37	chr9	139333311	139333311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgcgggggcagcagGctgggcagcctgggcgagct	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	ENST00000371712.3	-	1	963	c.561C>T	c.(559-561)agC>agT	p.S187S	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGCAGCAGGCTGGGCAGCC	0.697																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(559-561)agC>agT		inositol polyphosphate-5-phosphatase, 72 kDa							10	12	11					9																	139333311		2173	4270	6443	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333311G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.561C>T	9.37:g.139333311G>A							p.S187S	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	963	-		Myeloproliferative disorder(178;0.0511)	187			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.561C>T	CCDS7000.1																																																																																				0.697	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		13	78	0	0	0	1	0	13	78					A	139333311	G	A	139333311	2	1	79	1	0	0	0	0	0	0	0	1	7787	1194	42	2		2	INPP5E	9	139333311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	139333311	1880120	10651	20968											
SEC16A	9919	broad.mit.edu	37	chr9	139341761	139341761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcgagagccggctcGctccgctgggtcccgcttgg	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000371706.3	-	25	6114	c.6081C>T	c.(6079-6081)agC>agT	p.S2027S	SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313050.7_Silent_p.S2205S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000431893.2_Silent_p.S2027S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2027	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6613-6615)agC>agT		SEC16 homolog A (S. cerevisiae)							16	22	20					9																	139341761		1995	4146	6141	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139341761G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6081C>T	9.37:g.139341761G>A						SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000371706.3_Silent_p.S2027S|SEC16A_ENST00000431893.2_Silent_p.S2027S	p.S2205S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	25	6688	-		Myeloproliferative disorder(178;0.0511)	2027					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.6615C>T		.	.	.	.	.	.	.	.	.	.	G	4.974	0.180962	0.09443	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.32196	N	0.578475	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8904	4.3182	0.11003	0.5247:0.0934:0.29:0.092	.	.	.	.	X	335	.	.	R	-	1	2	SEC16A	138461582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.912000	0.01582	-1.771000	0.01293	-1.804000	0.00617	CGA		0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	43	0	0	0	1	0	4	43					A	139341761	G	A	139341761	2	1	79	1	0	0	0	0	0	0	0	1	14036	1078	38	1		1	SEC16A	9	139341761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	139341761	1871670	10652	20969											
SEC16A	9919	broad.mit.edu	37	chr9	139357393	139357393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggtctctctctcgagCgagctggcggcagccgccgg	14	16	3	0	rs370873951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000371706.3	-	10	4338	c.4305G>A	c.(4303-4305)tcG>tcA	p.S1435S	SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S|SEC16A_ENST00000431893.2_Silent_p.S1435S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.001					ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4837-4839)tcG>tcA		SEC16 homolog A (S. cerevisiae)		C		0,4076		0,0,2038	46	55	52		4839	-9.6	0	9		52	1,8353		0,1,4176	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6214	TT,TC,CC		0.012,0.0,0.0080		1613/2358	139357393	1,12429	2038	4177	6215	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139357393C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4305G>A	9.37:g.139357393C>T						SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000371706.3_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S	p.S1613S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	10	4912	-		Myeloproliferative disorder(178;0.0511)	1435					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4839G>A																																																																																					0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		66	313	0	0	0	1	0	66	313					T	139357393	C	T	139357393	2	4	79	1	0	0	0	0	0	0	0	1	14036	755	27	1		1	SEC16A	9	139357393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15632	139357393	1856038	10653	20970											
SEC16A	9919	broad.mit.edu	37	chr9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggtggcaccagctcCtgctgggctctttcgaggcc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000371706.3	-	1	2676	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	881					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3175-3177)caG>caT		SEC16 homolog A (S. cerevisiae)							29	31	30					9																	139368891		1916	4131	6047	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139368891C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2643G>T	9.37:g.139368891C>A	ENSP00000360771:p.Gln881His					SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000371706.3_Missense_Mutation_p.Q881H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H	p.Q1059H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	3250	-		Myeloproliferative disorder(178;0.0511)	881			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.3177G>T		.	.	.	.	.	.	.	.	.	.	C	6.060	0.379383	0.11466	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	0.515	0.17013	.	0.696041	0.14138	N	0.338891	T	0.22085	0.0532	M	0.62723	1.935	0.40474	D	0.98037	B;B;B;B	0.16802	0.011;0.019;0.019;0.011	B;B;B;B	0.18561	0.01;0.022;0.022;0.005	T	0.05632	-1.0873	10	0.27082	T	0.32	-0.2317	5.8162	0.18494	0.0:0.4446:0.2851:0.2704	.	1059;881;881;449	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1059;881;881;881;449	ENSP00000325827:Q1059H;ENSP00000360771:Q881H;ENSP00000290037:Q881H;ENSP00000387583:Q881H	ENSP00000290037:Q881H	Q	-	3	2	SEC16A	138488712	0.213000	0.23551	0.271000	0.24616	0.029000	0.11900	-0.129000	0.10515	-0.077000	0.12752	-0.136000	0.14681	CAG		0.587	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		39	149	1	0	7.05121e-23	1	7.99584e-23	39	149					A	139368891	C	A	139368891	3	1	79	1	0	0	0	0	1	0	0	0	14036	680	24	3	4016	3	SEC16A	9	139368891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11498	139368891	1844540	10654	20971											
SEC16A	9919	broad.mit.edu	37	chr9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagacccggccccaGcccccagtgggtggtgcgta	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000371706.3	-	1	557	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	175					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1057-1059)gCt>gAt		SEC16 homolog A (S. cerevisiae)							16	17	17					9																	139371010		1844	4088	5932	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371010G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.524C>A	9.37:g.139371010G>T	ENSP00000360771:p.Ala175Asp					SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000371706.3_Missense_Mutation_p.A175D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D	p.A353D	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1131	-		Myeloproliferative disorder(178;0.0511)	175					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1058C>A		.	.	.	.	.	.	.	.	.	.	G	18.46	3.628865	0.67015	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26518	1.73;1.73;1.73;1.74	5.21	4.31	0.51392	.	0.471361	0.19691	N	0.108264	T	0.38665	0.1049	M	0.65975	2.015	0.58432	D	0.999997	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.52856	0.518;0.711;0.711	T	0.13176	-1.0519	10	0.28530	T	0.3	-4.6305	13.4519	0.61176	0.0763:0.0:0.9237:0.0	.	353;175;175	F1T0I1;O15027-5;O15027-4	.;.;.	D	353;175;175;175	ENSP00000325827:A353D;ENSP00000360771:A175D;ENSP00000290037:A175D;ENSP00000387583:A175D	ENSP00000290037:A175D	A	-	2	0	SEC16A	138490831	0.018000	0.18449	0.008000	0.14137	0.032000	0.12392	1.957000	0.40392	1.326000	0.45319	0.655000	0.94253	GCT		0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		27	103	1	0	4.7796e-09	1	5.01584e-09	27	103					T	139371010	G	T	139371010	3	4	79	1	0	0	0	0	1	0	0	0	14036	971	34	3	6135	3	SEC16A	9	139371010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2119	139371010	1842421	10655	20972											
SEC16A	9919	broad.mit.edu	37	chr9	139371882	139371882	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccagtggtgtactttgGagcgcctgtctactaaaagc	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371882G>A	ENST00000313050.7	-	1	259	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTGTACTTTGGAGCGCCTGTC	0.562																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(184-186)ctC>ctT		SEC16 homolog A (S. cerevisiae)							64	67	66					9																	139371882		1970	4141	6111	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371882G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.186C>T	9.37:g.139371882G>A							p.L62L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	259	-		Myeloproliferative disorder(178;0.0511)	2026					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313050.7	37	c.186C>T	CCDS55351.1																																																																																				0.562	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		12	322	0	0	0	1	0	12	322					A	139371882	G	A	139371882	2	1	79	1	0	0	0	0	0	0	0	1	14036	1161	41	2		2	SEC16A	9	139371882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	872	139371882	1841549	10656	20973											
NOTCH1	4851	broad.mit.edu	37	chr9	139390585	139390585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgggagggctggagaCgccctcggaccagtcggaga	19	10	0	2	rs111627256	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139390585C>T	ENST00000277541.6	-	34	7681	c.7606G>A	c.(7606-7608)Gtc>Atc	p.V2536I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2536					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V2537I(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGAGACGCCCTCGGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			C|||	6	0.00119808	0.0023	0.0029	5008	,	,		13229	0.0		0.001	False		,,,				2504	0.0					ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		1	Substitution - Missense(1)	p.V2537I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	GRCh37	CM083740	NOTCH1	M	rs111627256	c.(7606-7608)Gtc>Atc		notch 1		C	ILE/VAL	2,3982		0,2,1990	18	25	23		7606	0.9	1	9	dbSNP_132	23	3,8311		0,3,4154	yes	missense	NOTCH1	NM_017617.3	29	0,5,6144	TT,TC,CC		0.0361,0.0502,0.0407	benign	2536/2556	139390585	5,12293	1992	4157	6149	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390585C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7606G>A	9.37:g.139390585C>T	ENSP00000277541:p.Val2536Ile	HNSCC(8;0.001)					p.V2536I	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7681	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2536					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.7606G>A	CCDS43905.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	2.729	-0.264917	0.05754	5.02E-4	3.61E-4	ENSG00000148400	ENST00000277541	T	0.74842	-0.88	4.83	0.936	0.19488	Domain of unknown function DUF3454, notch (1);	0.110491	0.64402	N	0.000015	T	0.40815	0.1132	N	0.02765	-0.5	0.25400	N	0.988454	B	0.09022	0.002	B	0.09377	0.004	T	0.37314	-0.9711	10	0.02654	T	1	.	7.9967	0.30271	0.0:0.2534:0.0:0.7466	.	2536	P46531	NOTC1_HUMAN	I	2536	ENSP00000277541:V2536I	ENSP00000277541:V2536I	V	-	1	0	NOTCH1	138510406	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.703000	0.37846	-0.037000	0.13646	0.462000	0.41574	GTC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	91	0	0	0	1	0	5	91					T	139390585	C	T	139390585	3	4	79	1	0	0	0	0	1	0	0	0	10589	536	19	1	65	1	NOTCH1	9	139390585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18703	139390585	1822846	10657	20974											
NOTCH1	4851	broad.mit.edu	37	chr9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccgttgggcgagcagaGcgggggcgacagggtgggcg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2139					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGCAGAGCGGGGGCGAC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6415-6417)Ctc>Ttc		notch 1							20	24	22					9																	139391776		2079	4173	6252	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391776G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6415C>T	9.37:g.139391776G>A	ENSP00000277541:p.Leu2139Phe	HNSCC(8;0.001)					p.L2139F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6490	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2139					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6415C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468738	0.63625	.	.	ENSG00000148400	ENST00000277541	D	0.83075	-1.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.88716	0.3226	10	0.41790	T	0.15	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2139	P46531	NOTC1_HUMAN	F	2139	ENSP00000277541:L2139F	ENSP00000277541:L2139F	L	-	1	0	NOTCH1	138511597	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.280000	0.72626	2.703000	0.92315	0.561000	0.74099	CTC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	256	0	0	0	1	0	11	256					A	139391776	G	A	139391776	3	1	79	1	0	0	0	0	1	0	0	0	10589	971	34	2	1256	2	NOTCH1	9	139391776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	139391776	1821655	10658	20975											
NOTCH1	4851	broad.mit.edu	37	chr9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgcatgcgctcctgtgCgatgtcgcgcggcaggcggt	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2101					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCCTGTGCGATGTCGCGC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6301-6303)Gca>Aca		notch 1							38	40	39					9																	139391890		2190	4275	6465	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391890C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6301G>A	9.37:g.139391890C>T	ENSP00000277541:p.Ala2101Thr	HNSCC(8;0.001)					p.A2101T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6376	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2101					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6301G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323403	0.81580	.	.	ENSG00000148400	ENST00000277541	T	0.74002	-0.8	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.114264	0.64402	D	0.000015	D	0.87533	0.6201	M	0.90814	3.15	0.80722	D	1	D	0.63046	0.992	P	0.59221	0.854	D	0.89877	0.4027	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2101	P46531	NOTC1_HUMAN	T	2101	ENSP00000277541:A2101T	ENSP00000277541:A2101T	A	-	1	0	NOTCH1	138511711	1.000000	0.71417	0.585000	0.28666	0.317000	0.28152	5.899000	0.69846	2.703000	0.92315	0.561000	0.74099	GCA		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		66	276	0	0	0	1	0	66	276					T	139391890	C	T	139391890	3	4	79	1	0	0	0	0	1	0	0	0	10589	768	27	1	1370	1	NOTCH1	9	139391890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	139391890	1821541	10659	20976											
NOTCH1	4851	broad.mit.edu	37	chr9	139395286	139395286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcgatcatgagCggggtgaagccatctgcaga	16	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5650-5652)ccG>ccA		notch 1							12	15	14					9																	139395286		1987	4152	6139	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395286C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5652G>A	9.37:g.139395286C>T		HNSCC(8;0.001)					p.P1884P	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5727	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1884					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5652G>A	CCDS43905.1																																																																																				0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	147	0	0	0	1	0	24	147					T	139395286	C	T	139395286	2	4	79	1	0	0	0	0	0	0	0	1	10589	755	27	1		1	NOTCH1	9	139395286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3396	139395286	1818145	10660	20977											
NOTCH1	4851	broad.mit.edu	37	chr9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaggctgcccagcgaggCgagcgctcccaggaatgcgg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5119-5121)Gcc>Acc		notch 1							47	58	54					9																	139397682		2122	4243	6365	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397682C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5119G>A	9.37:g.139397682C>T	ENSP00000277541:p.Ala1707Thr	HNSCC(8;0.001)					p.A1707T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5194	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1707					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5119G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238152	0.95240	.	.	ENSG00000148400	ENST00000277541	T	0.37058	1.22	4.81	4.81	0.61882	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66356	-0.5944	10	0.52906	T	0.07	.	17.2014	0.86907	0.0:1.0:0.0:0.0	.	1707	P46531	NOTC1_HUMAN	T	1707	ENSP00000277541:A1707T	ENSP00000277541:A1707T	A	-	1	0	NOTCH1	138517503	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	5.777000	0.68931	2.376000	0.81061	0.561000	0.74099	GCC		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		43	196	0	0	0	1	0	43	196					T	139397682	C	T	139397682	3	4	79	1	0	0	0	0	1	0	0	0	10589	768	27	1	2580	1	NOTCH1	9	139397682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2396	139397682	1815749	10661	20978											
NOTCH1	4851	broad.mit.edu	37	chr9	139405693	139405693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaggggctgggggcaCacggggccagcaccacctca	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	ENST00000277541.6	-	16	2573	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	833	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGGGGCACACGGGGCCAG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2497-2499)tGt>tAt		notch 1							24	31	28					9																	139405693		2090	4197	6287	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405693C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2498G>A	9.37:g.139405693C>T	ENSP00000277541:p.Cys833Tyr	HNSCC(8;0.001)					p.C833Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	16	2573	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	833			EGF-like 22.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2498G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553725	0.86231	.	.	ENSG00000148400	ENST00000277541	D	0.90955	-2.76	4.63	4.63	0.57726	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99683	1.0999	10	0.87932	D	0	.	16.4616	0.84056	0.0:1.0:0.0:0.0	.	833	P46531	NOTC1_HUMAN	Y	833	ENSP00000277541:C833Y	ENSP00000277541:C833Y	C	-	2	0	NOTCH1	138525514	1.000000	0.71417	0.945000	0.38365	0.913000	0.54294	7.251000	0.78297	2.120000	0.65058	0.462000	0.41574	TGT		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		33	167	0	0	0	1	0	33	167					T	139405693	C	T	139405693	3	4	79	1	0	0	0	0	1	0	0	0	10589	478	17	2	5245	2	NOTCH1	9	139405693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8011	139405693	1807738	10662	20979											
NOTCH1	4851	broad.mit.edu	37	chr9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggcaggtgaaggtggCgacgccgtccttgcaggagc	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	585	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGTGGCGACGCCGTCC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1753-1755)Gcc>Acc		notch 1							20	31	27					9																	139410085		2171	4280	6451	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410085C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1753G>A	9.37:g.139410085C>T	ENSP00000277541:p.Ala585Thr	HNSCC(8;0.001)					p.A585T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1828	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	585			EGF-like 15; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1753G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313318	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	5.16	3.26	0.37387	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	L	0.31664	0.95	0.80722	D	1	D	0.53151	0.958	P	0.56563	0.801	D	0.89859	0.4015	10	0.49607	T	0.09	.	13.248	0.60033	0.2896:0.7104:0.0:0.0	.	585	P46531	NOTC1_HUMAN	T	585	ENSP00000277541:A585T	ENSP00000277541:A585T	A	-	1	0	NOTCH1	138529906	1.000000	0.71417	0.744000	0.31058	0.973000	0.67179	5.893000	0.69798	0.519000	0.28406	-0.270000	0.10280	GCC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		15	104	0	0	0	1	0	15	104					T	139410085	C	T	139410085	3	4	79	1	0	0	0	0	1	0	0	0	10589	768	27	1	6010	1	NOTCH1	9	139410085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4392	139410085	1803346	10663	20980											
NOTCH1	4851	broad.mit.edu	37	chr9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggaactccccaatctggtCcaggcaggtggcgtcgttct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	469	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D469N(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAATCTGGTCCAGGCAGGTG	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.D469N(2)	breast(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1405-1407)Gac>Tac		notch 1							57	64	61					9																	139412240		2138	4230	6368	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412240C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1405G>T	9.37:g.139412240C>A	ENSP00000277541:p.Asp469Tyr	HNSCC(8;0.001)					p.D469Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1480	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	469			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1405G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444221	0.83993	.	.	ENSG00000148400	ENST00000277541	D	0.92048	-2.96	4.57	4.57	0.56435	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	0.97256	0.9103	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	469	P46531	NOTC1_HUMAN	Y	469	ENSP00000277541:D469Y	ENSP00000277541:D469Y	D	-	1	0	NOTCH1	138532061	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	GAC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		76	327	1	0	6.11987e-43	1	7.46226e-43	76	327					A	139412240	C	A	139412240	3	1	79	1	0	0	0	0	1	0	0	0	10589	855	30	3	6370	3	NOTCH1	9	139412240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2155	139412240	1801191	10664	20981											
EGFL7	51162	broad.mit.edu	37	chr9	139563096	139563096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccttcctcaccacctgCgacgggcaccgggcctgcag	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000406555.3_Silent_p.C56C|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	56	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(166-168)tgC>tgT		EGF-like-domain, multiple 7							74	71	72					9																	139563096		2202	4295	6497	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563096C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.168C>T	9.37:g.139563096C>T						EGFL7_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR	p.C56C			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1079	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	56			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.168C>T	CCDS7002.1																																																																																				0.682	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		126	641	0	0	0	1	0	126	641					T	139563096	C	T	139563096	2	4	79	1	0	0	0	0	0	0	0	1	4980	776	27	1		1	EGFL7	9	139563096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150856	139563096	1650335	10665	20982											
EGFL7	51162	broad.mit.edu	37	chr9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccggcagttactggtGccagtgttgggaggggcaca	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	161	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(481-483)tGc>tAc		EGF-like-domain, multiple 7							31	33	32					9																	139564693		2202	4295	6497	SO:0001583	missense	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564693G>A	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.482G>A	9.37:g.139564693G>A	ENSP00000360764:p.Cys161Tyr					EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR	p.C161Y			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	7	1393	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	161			EGF-like 2; calcium-binding (Potential).		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	c.482G>A	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400622	0.83120	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96994	0.9724	10	0.87932	D	0	-25.823	17.8471	0.88733	0.0:0.0:1.0:0.0	.	161	Q9UHF1	EGFL7_HUMAN	Y	161	ENSP00000360764:C161Y;ENSP00000307843:C161Y;ENSP00000385639:C161Y;ENSP00000360763:C161Y	ENSP00000307843:C161Y	C	+	2	0	EGFL7	138684514	1.000000	0.71417	0.972000	0.41901	0.686000	0.39977	7.784000	0.85713	2.453000	0.82957	0.561000	0.74099	TGC		0.657	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		49	204	0	0	0	1	0	49	204					A	139564693	G	A	139564693	3	1	79	1	0	0	0	0	1	0	0	0	4980	1319	46	2	500	2	EGFL7	9	139564693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1597	139564693	1648738	10666	20983											
FAM69B	138311	broad.mit.edu	37	chr9	139617731	139617731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggctggggcctgcGtggccttggcgggccaagat	18	11	0	1	rs112780986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371692.4	+	5	897	c.801G>A	c.(799-801)gcG>gcA	p.A267A	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.A180A|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	267						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15050	0.0		0.0	False		,,,				2504	0.0					ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(538-540)gcG>gcA		family with sequence similarity 69, member B		G		1,4373		0,1,2186	24	30	28		801	-10.6	0.1	9	dbSNP_132	28	0,8572		0,0,4286	no	coding-synonymous	FAM69B	NM_152421.3		0,1,6472	AA,AG,GG		0.0,0.0229,0.0077		267/432	139617731	1,12945	2187	4286	6473	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617731G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.801G>A	9.37:g.139617731G>A						FAM69B_ENST00000371692.4_Silent_p.A267A|SNHG7_ENST00000414282.1_RNA	p.A180A			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1639	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	267					Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.540G>A	CCDS7004.1																																																																																				0.677	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		27	355	0	0	0	1	0	27	355					A	139617731	G	A	139617731	2	1	79	1	0	0	0	0	0	0	0	1	5628	1132	40	1		1	FAM69B	9	139617731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53038	139617731	1595700	10667	20984											
FAM69B	138311	broad.mit.edu	37	chr9	139617866	139617866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagccacctacgacttcaaGatggccgacctgcagcaggt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371692.4	+	5	1032	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.K225K|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	312						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(673-675)aaG>aaA		family with sequence similarity 69, member B							38	38	38					9																	139617866		2203	4299	6502	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617866G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.936G>A	9.37:g.139617866G>A						FAM69B_ENST00000371692.4_Silent_p.K312K|SNHG7_ENST00000414282.1_RNA	p.K225K			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1774	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	312					Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.675G>A	CCDS7004.1																																																																																				0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		33	189	0	0	0	1	0	33	189					A	139617866	G	A	139617866	2	1	79	1	0	0	0	0	0	0	0	1	5628	933	33	2		2	FAM69B	9	139617866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	139617866	1595565	10668	20985											
LCN8	389812	broad.mit.edu	37	chr9	139651524	139651524	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacggtcaggttactccCgctcaaggtgaggaacaagc	11	12	3	1	rs370566056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139651524C>T	ENST00000316144.5	-	0	762				LCN8_ENST00000482893.1_5'UTR|LCN8_ENST00000371688.3_Missense_Mutation_p.G41R|LCN15_ENST00000482511.1_5'Flank	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						AGGTTACTCCCGCTCAAGGTG	0.607																																						ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(121-123)Ggg>Agg		lipocalin 8		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	56	48	50		121	1.6	0	9		50	0,8600		0,0,4300	no	missense	LCN8	NM_178469.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	41/153	139651524	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651524C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651524C>T						LCN8_ENST00000482893.1_5'UTR	p.G41R	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	416	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	64						Missense_Mutation	SNP	ENST00000316144.5	37	c.121G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	8.375	0.836230	0.16891	2.27E-4	0.0	ENSG00000204001	ENST00000371688	T	0.11930	2.73	3.47	1.57	0.23409	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.07098	0.0180	L	0.33485	1.01	0.09310	N	1	P;B	0.43701	0.815;0.098	B;B	0.30105	0.111;0.023	T	0.30268	-0.9984	8	.	.	.	.	4.9508	0.14013	0.0:0.6622:0.2164:0.1214	.	64;41	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	R	41	ENSP00000360753:G41R	.	G	-	1	0	LCN8	138771345	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.145000	0.16157	0.453000	0.26858	-0.254000	0.11334	GGG		0.607	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		30	97	0	0	0	1	0	30	97					T	139651524	C	T	139651524	1	4	79	0	1	0	0	0	0	0	0	0	8717	652	23	1		1	LCN8	9	139651524	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33658	139651524	1561907	10669	20986											
C9orf172	389813	broad.mit.edu	37	chr9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatgcgcgctgccggcGcaccgagaccatgttcaacg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2014-2016)cGc>cAc		chromosome 9 open reading frame 172							20	25	23					9																	139740881		2048	4145	6193	SO:0001583	missense	389813							g.chr9:139740881G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2015G>A	9.37:g.139740881G>A	ENSP00000412388:p.Arg672His						p.R672H	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2015	+			672						Missense_Mutation	SNP	ENST00000436881.1	37	c.2015G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883763	0.33255	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.52837	0.1759	M	0.66939	2.045	0.51012	D	0.9999	B	0.32939	0.391	B	0.23419	0.046	T	0.62469	-0.6848	8	0.72032	D	0.01	-10.9499	13.5	0.61449	0.0:0.0:1.0:0.0	.	672	C9J069	CI172_HUMAN	H	672	.	ENSP00000412388:R672H	R	+	2	0	C9orf172	138860702	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	4.587000	0.60991	1.600000	0.50102	0.164000	0.16699	CGC		0.701	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		45	161	0	0	0	1	0	45	161					A	139740881	G	A	139740881	3	1	79	1	0	0	0	0	1	0	0	0	2478	1087	38	1	2017	1	C9orf172	9	139740881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89357	139740881	1472550	10670	20987											
C9orf172	389813	broad.mit.edu	37	chr9	139741017	139741017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacggccgcgtgggcagCgtgtgccgccacgtactgca	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139741017C>T	ENST00000436881.1	+	1	2151	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	717										endometrium(2)|large_intestine(1)|lung(6)	9						GCGTGGGCAGCGTGTGCCGCC	0.716																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2149-2151)agC>agT		chromosome 9 open reading frame 172							13	15	14					9																	139741017		1939	4097	6036	SO:0001819	synonymous_variant	389813							g.chr9:139741017C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2151C>T	9.37:g.139741017C>T							p.S717S	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2151	+			717						Silent	SNP	ENST00000436881.1	37	c.2151C>T	CCDS48059.1																																																																																				0.716	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		7	186	0	0	0	1	0	7	186					T	139741017	C	T	139741017	2	4	79	1	0	0	0	0	0	0	0	1	2478	767	27	1		1	C9orf172	9	139741017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	139741017	1472414	10671	20988											
PHPT1	29085	broad.mit.edu	37	chr9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtatgtgctgatccgaGtccactcggctccccgctcc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000247665.10	+	1	416	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000492540.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	27				V -> I (in Ref. 4; CAB66579). {ECO:0000305}.	negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647																																						ENST00000545326.1																			0				NS(1)|large_intestine(1)|lung(1)	3						c.(79-81)Gtc>Atc		phosphohistidine phosphatase 1							77	76	76					9																	139743961		2202	4300	6502	SO:0001583	missense	29085					cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	g.chr9:139743961G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.79G>A	9.37:g.139743961G>A	ENSP00000247665:p.Val27Ile					PHPT1_ENST00000247665.10_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|PHPT1_ENST00000492540.1_3'UTR	p.V27I	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	706	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	27	V -> I (in Ref. 4; CAB66579).				B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.79G>A	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222829	0.58668	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.23	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.67011	0.2848	M	0.62266	1.93	0.54753	D	0.999984	D;D	0.69078	0.997;0.965	D;P	0.66084	0.941;0.774	T	0.63363	-0.6654	9	0.26408	T	0.33	-4.684	10.0652	0.42299	0.1011:0.0:0.8989:0.0	.	27;27	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	I	27	.	ENSP00000247665:V27I	V	+	1	0	PHPT1	138863782	0.998000	0.40836	0.987000	0.45799	0.401000	0.30781	1.948000	0.40303	1.004000	0.39156	-0.452000	0.05504	GTC		0.647	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		77	354	0	0	0	1	0	77	354					A	139743961	G	A	139743961	3	1	79	1	0	0	0	0	1	0	0	0	11902	1029	36	2	81	2	PHPT1	9	139743961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2944	139743961	1469470	10672	20989											
PHPT1	29085	broad.mit.edu	37	chr9	139743981	139743981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactcggctccccgctcCggggctccggctgcagagag	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000247665.10	+	1	436	c.99C>T	c.(97-99)tcC>tcT	p.S33S	MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000492540.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	33					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652																																						ENST00000545326.1																			0				NS(1)|large_intestine(1)|lung(1)	3						c.(97-99)tcC>tcT		phosphohistidine phosphatase 1							59	63	62					9																	139743981		2203	4299	6502	SO:0001819	synonymous_variant	29085					cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	g.chr9:139743981C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.99C>T	9.37:g.139743981C>T						PHPT1_ENST00000247665.10_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S|PHPT1_ENST00000492540.1_3'UTR	p.S33S	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	726	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	33					B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	c.99C>T	CCDS7009.1																																																																																				0.652	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		46	413	0	0	0	1	0	46	413					T	139743981	C	T	139743981	2	4	79	1	0	0	0	0	0	0	0	1	11902	639	23	1		1	PHPT1	9	139743981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	139743981	1469450	10673	20990											
MAMDC4	158056	broad.mit.edu	37	chr9	139752883	139752883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtctggcctgtgtggCtggagccacctggcctggcc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000317446.2	+	22	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.G981G	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2941-2943)ggC>ggT		MAM domain containing 4							39	47	45					9																	139752883		2199	4299	6498	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139752883C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2706C>T	9.37:g.139752883C>T						MAMDC4_ENST00000317446.2_Silent_p.G902G|MAMDC4_ENST00000485732.1_3'UTR	p.G981G			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	24	2993	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	981			MAM 6.			Silent	SNP	ENST00000317446.2	37	c.2943C>T	CCDS7010.1																																																																																				0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		50	224	0	0	0	1	0	50	224					T	139752883	C	T	139752883	2	4	79	1	0	0	0	0	0	0	0	1	9245	784	28	2		2	MAMDC4	9	139752883	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	139752883	1460548	10674	20991											
TRAF2	7186	broad.mit.edu	37	chr9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagctgccggcattgcCgggcaccctgctgcggagca	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000247668.2	+	5	551	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(655-657)Cgg>Tgg		TNF receptor-associated factor 2							18	20	19					9																	139802654		2203	4297	6500	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802654C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.499C>T	9.37:g.139802654C>T	ENSP00000247668:p.Arg167Trp					TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.R167W	p.R219W			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	700	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	167	Missing (in Ref. 2; BAB70792).				A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.655C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322261	0.60634	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.56275	0.47;1.49;1.48;1.49;1.23	4.01	-1.67	0.08238	Zinc finger, TRAF-type (1);	0.183072	0.45361	D	0.000375	T	0.59224	0.2178	L	0.53249	1.67	0.31336	N	0.684212	D;D;D;P	0.71674	0.985;0.985;0.998;0.952	D;D;D;P	0.66716	0.914;0.914;0.946;0.654	T	0.62666	-0.6806	10	0.87932	D	0	-16.9972	8.6683	0.34134	0.6951:0.1942:0.1108:0.0	.	156;167;219;167	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	167;167;167;191;167;219;219	ENSP00000405860:R167W;ENSP00000446414:R167W;ENSP00000406524:R167W;ENSP00000247668:R167W;ENSP00000352685:R219W	ENSP00000247668:R167W	R	+	1	2	TRAF2	138922475	0.983000	0.35010	0.180000	0.23079	0.754000	0.42855	0.787000	0.26858	-0.311000	0.08754	0.561000	0.74099	CGG		0.682	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		19	115	0	0	0	1	0	19	115					T	139802654	C	T	139802654	3	4	79	1	0	0	0	0	1	0	0	0	16491	643	23	1	513	1	TRAF2	9	139802654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49771	139802654	1410777	10675	20992											
FBXW5	54461	broad.mit.edu	37	chr9	139835759	139835759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcactcgtcgttgggCgtgtaggcgcggtgcgcacg	17	10	0	1	rs138768587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	467					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1399-1401)acG>acA		F-box and WD repeat domain containing 5							43	36	38					9																	139835759		2202	4299	6501	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139835759C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1401G>A	9.37:g.139835759C>T						FBXW5_ENST00000483559.1_5'UTR	p.T467T	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1480	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	467					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.1401G>A	CCDS7014.1																																																																																				0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		41	214	0	0	0	1	0	41	214					T	139835759	C	T	139835759	2	4	79	1	0	0	0	0	0	0	0	1	5793	755	27	1		1	FBXW5	9	139835759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33105	139835759	1377672	10676	20993											
FBXW5	54461	broad.mit.edu	37	chr9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatgacgtggtccagcgCgtcgaagaaggcatcggagc	15	10	1	2	rs200545656		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	394					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17290	0.0		0.001	False		,,,				2504	0.0					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1180-1182)Gcg>Acg		F-box and WD repeat domain containing 5							84	68	73					9																	139836053		2197	4296	6493	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139836053C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1180G>A	9.37:g.139836053C>T	ENSP00000313034:p.Ala394Thr					FBXW5_ENST00000483559.1_5'UTR	p.A394T	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	7	1259	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	394					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1180G>A	CCDS7014.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.45	1.352848	0.24512	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.64438	-0.1;1.64	4.09	0.713	0.18173	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.246961	0.42548	D	0.000693	T	0.40743	0.1129	L	0.29908	0.895	0.39497	D	0.968138	P;P	0.37122	0.583;0.455	B;B	0.27887	0.084;0.035	T	0.28839	-1.0031	10	0.18276	T	0.48	-13.1478	12.3652	0.55224	0.5479:0.4521:0.0:0.0	.	259;394	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	394;229	ENSP00000313034:A394T;ENSP00000409102:A229T	ENSP00000313034:A394T	A	-	1	0	FBXW5	138955874	0.693000	0.27728	0.054000	0.19295	0.435000	0.31806	1.513000	0.35823	0.416000	0.25844	0.561000	0.74099	GCG		0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		17	69	0	0	0	1	0	17	69					T	139836053	C	T	139836053	3	4	79	1	0	0	0	0	1	0	0	0	5793	768	27	1	532	1	FBXW5	9	139836053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	139836053	1377378	10677	20994											
FBXW5	54461	broad.mit.edu	37	chr9	139836666	139836666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgcccgcccctccaGcacgcggtccagaaagtgcc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	310					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(928-930)Ctg>Ttg		F-box and WD repeat domain containing 5							13	18	17					9																	139836666		2173	4281	6454	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139836666G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.928C>T	9.37:g.139836666G>A						FBXW5_ENST00000483559.1_5'UTR	p.L310L	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	6	1007	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	310					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.928C>T	CCDS7014.1																																																																																				0.706	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		15	49	0	0	0	1	0	15	49					A	139836666	G	A	139836666	2	1	79	1	0	0	0	0	0	0	0	1	5793	962	34	2		2	FBXW5	9	139836666	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	613	139836666	1376765	10678	20995											
PTGDS	5730	broad.mit.edu	37	chr9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccgggagaagaaggCggcgttgtccatgtgcaagt	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000371625.3	+	2	253	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_ENST00000460340.1_3'UTR|RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	60					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(178-180)gCg>gTg		prostaglandin D2 synthase 21kDa (brain)							58	58	58					9																	139873509		2203	4300	6503	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873509C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.179C>T	9.37:g.139873509C>T	ENSP00000360687:p.Ala60Val					PTGDS_ENST00000371625.3_Missense_Mutation_p.A60V|PTGDS_ENST00000460340.1_3'UTR	p.A60V			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	254	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	60					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.179C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948219	0.53186	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	4.38	-0.632	0.11523	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.177410	0.06362	N	0.711815	T	0.08313	0.0207	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.20955	0.032	T	0.40553	-0.9557	10	0.33940	T	0.23	-14.0698	9.1141	0.36746	0.5396:0.3473:0.113:0.0	.	60	P41222	PTGDS_HUMAN	V	60	ENSP00000224167:A60V;ENSP00000392633:A60V;ENSP00000360687:A60V;ENSP00000360685:A60V	ENSP00000224167:A60V	A	+	2	0	PTGDS	138993330	0.000000	0.05858	0.015000	0.15790	0.680000	0.39746	-0.207000	0.09384	-0.111000	0.12001	0.436000	0.28706	GCG		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		61	269	0	0	0	1	0	61	269					T	139873509	C	T	139873509	3	4	79	1	0	0	0	0	1	0	0	0	12789	768	27	1	185	1	PTGDS	9	139873509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36843	139873509	1339922	10679	20996											
PTGDS	5730	broad.mit.edu	37	chr9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgactacgaccagtacGcgctgctgtacagccagggc	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000371625.3	+	4	459	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	129					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(487-489)Gcg>Acg		prostaglandin D2 synthase 21kDa (brain)							85	88	87					9																	139874451		2203	4300	6503	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874451G>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.385G>A	9.37:g.139874451G>A	ENSP00000360687:p.Ala129Thr					PTGDS_ENST00000371625.3_Missense_Mutation_p.A129T	p.A163T			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	4	562	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	129					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.487G>A	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.7|24.7	4.559762|4.559762	0.86335|0.86335	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.178344|.	0.39146|.	N|.	0.001446|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.82923|0.82923	2.615|2.615	0.48571|0.48571	D|D	0.99967|0.99967	D|.	0.76494|.	0.999|.	P|.	0.59115|.	0.852|.	T|T	0.78800|0.78800	-0.2062|-0.2062	10|5	0.66056|.	D|.	0.02|.	-0.5952|-0.5952	13.7612|13.7612	0.62968|0.62968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129|.	P41222|.	PTGDS_HUMAN|.	T|H	163;163;129|151	ENSP00000224167:A163T;ENSP00000392633:A163T;ENSP00000360687:A129T|.	ENSP00000224167:A163T|.	A|R	+|+	1|2	0|0	PTGDS|PTGDS	138994272|138994272	0.788000|0.788000	0.28762|0.28762	0.114000|0.114000	0.21550|0.21550	0.019000|0.019000	0.09904|0.09904	2.412000|2.412000	0.44609|0.44609	2.391000|2.391000	0.81399|0.81399	0.651000|0.651000	0.88453|0.88453	GCG|CGC		0.662	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		136	657	0	0	0	1	0	136	657					A	139874451	G	A	139874451	3	1	79	1	0	0	0	0	1	0	0	0	12789	1087	38	1	399	1	PTGDS	9	139874451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	942	139874451	1338980	10680	20997											
ABCA2	20	broad.mit.edu	37	chr9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcgatgcccagcacgCcagacacctgctccatcttg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000371605.3	-	46	7163	c.7016G>A	c.(7015-7017)gGc>gAc	p.G2339D	ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D|ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2339					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(7018-7020)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 2							36	42	40					9																	139903232		2173	4251	6424	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139903232C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7016G>A	9.37:g.139903232C>T	ENSP00000360666:p.Gly2339Asp					ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D|ABCA2_ENST00000371605.3_Missense_Mutation_p.G2339D	p.G2340D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	47	7166	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2339					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.7019G>A		.	.	.	.	.	.	.	.	.	.	C	5.457	0.269470	0.10349	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.89	2.88	0.33553	.	0.136424	0.47093	U	0.000249	T	0.41119	0.1145	N	0.01771	-0.73	0.37890	D	0.930681	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	3.2538	0.06824	0.0:0.5802:0.0:0.4198	.	2339;2370	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2340;2339;2370;2340;108;98	ENSP00000265662:G2340D;ENSP00000360666:G2339D;ENSP00000344155:G2340D;ENSP00000420360:G108D;ENSP00000406741:G98D	ENSP00000265662:G2340D	G	-	2	0	ABCA2	139023053	1.000000	0.71417	0.980000	0.43619	0.620000	0.37586	4.803000	0.62546	2.009000	0.58944	0.491000	0.48974	GGC		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	46	0	0	0	1	0	15	46					T	139903232	C	T	139903232	3	4	79	1	0	0	0	0	1	0	0	0	32	739	26	2	303	2	ABCA2	9	139903232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28781	139903232	1310199	10681	20998											
ABCA2	20	broad.mit.edu	37	chr9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctttgtgtggtgccGctcctgcagggggggaggtc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000371605.3	-	46	7078	c.6931C>T	c.(6931-6933)Cgg>Tgg	p.R2311W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2311					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6934-6936)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							31	34	33					9																	139903317		2078	4188	6266	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139903317G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6931C>T	9.37:g.139903317G>A	ENSP00000360666:p.Arg2311Trp					ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R2311W	p.R2312W			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	47	7081	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2311					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6934C>T		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184237	0.57800	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	3.89	2.97	0.34412	.	0.152893	0.43260	U	0.000591	D	0.89480	0.6727	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89827	0.3993	10	0.87932	D	0	.	12.308	0.54912	0.0:0.0:0.6968:0.3032	.	2311;2342	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2312;2311;2342;2312;80;70	ENSP00000265662:R2312W;ENSP00000360666:R2311W;ENSP00000344155:R2312W;ENSP00000420360:R80W;ENSP00000406741:R70W	ENSP00000265662:R2312W	R	-	1	2	ABCA2	139023138	0.993000	0.37304	0.995000	0.50966	0.362000	0.29581	0.771000	0.26633	0.820000	0.34516	0.491000	0.48974	CGG		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		22	75	0	0	0	1	0	22	75					A	139903317	G	A	139903317	3	1	79	1	0	0	0	0	1	0	0	0	32	1086	38	1	388	1	ABCA2	9	139903317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	139903317	1310114	10682	20999											
ABCA2	20	broad.mit.edu	37	chr9	139904272	139904272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatggccgtggagagcttCcgcttgttgccgccgctgta	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000371605.3	-	42	6723	c.6576G>A	c.(6574-6576)cgG>cgA	p.R2192R	ABCA2_ENST00000265662.5_Silent_p.R2193R|ABCA2_ENST00000341511.6_Silent_p.R2193R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2192	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6577-6579)cgG>cgA		ATP-binding cassette, sub-family A (ABC1), member 2							45	55	52					9																	139904272		2189	4291	6480	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904272C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6576G>A	9.37:g.139904272C>T						ABCA2_ENST00000341511.6_Silent_p.R2193R|ABCA2_ENST00000371605.3_Silent_p.R2192R	p.R2193R			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	43	6726	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2192			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6579G>A																																																																																					0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		30	130	0	0	0	1	0	30	130					T	139904272	C	T	139904272	2	4	79	1	0	0	0	0	0	0	0	1	32	842	30	2		2	ABCA2	9	139904272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955	139904272	1309159	10683	21000											
ABCA2	20	broad.mit.edu	37	chr9	139907734	139907734	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagccggaacgtgctcacGagctgctgggggctggcgtc	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000371605.3	-	29	4731	c.4584C>T	c.(4582-4584)ctC>ctT	p.L1528L	ABCA2_ENST00000265662.5_Silent_p.L1529L|ABCA2_ENST00000341511.6_Silent_p.L1529L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1528					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4585-4587)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 2							4	6	6					9																	139907734		1634	3662	5296	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907734G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4584C>T	9.37:g.139907734G>A						ABCA2_ENST00000341511.6_Silent_p.L1529L|ABCA2_ENST00000371605.3_Silent_p.L1528L	p.L1529L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	30	4734	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1528					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4587C>T																																																																																					0.736	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	62	0	0	0	1	0	15	62					A	139907734	G	A	139907734	2	1	79	1	0	0	0	0	0	0	0	1	32	1045	37	1		1	ABCA2	9	139907734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3462	139907734	1305697	10684	21001											
ABCA2	20	broad.mit.edu	37	chr9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccgcgaccctcaccgCgatgcacttctcgaaggccg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000371605.3	-	17	2695	c.2548G>A	c.(2548-2550)Gcg>Acg	p.A850T	ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	850					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2551-2553)Gcg>Acg		ATP-binding cassette, sub-family A (ABC1), member 2							48	56	53					9																	139911650		2136	4235	6371	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911650C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2548G>A	9.37:g.139911650C>T	ENSP00000360666:p.Ala850Thr					ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000371605.3_Missense_Mutation_p.A850T	p.A851T			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2698	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	850					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2551G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.575579	0.86645	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84873	-1.91;-1.91;-1.91	4.08	4.08	0.47627	.	0.198498	0.42821	U	0.000653	D	0.90157	0.6924	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.81914	0.995;0.881	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	850;881	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	851;850;881;851	ENSP00000265662:A851T;ENSP00000360666:A850T;ENSP00000344155:A851T	ENSP00000265662:A851T	A	-	1	0	ABCA2	139031471	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.530000	0.81962	2.116000	0.64780	0.313000	0.20887	GCG		0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		74	363	0	0	0	1	0	74	363					T	139911650	C	T	139911650	3	4	79	1	0	0	0	0	1	0	0	0	32	768	27	1	4887	1	ABCA2	9	139911650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3916	139911650	1301781	10685	21002											
ABCA2	20	broad.mit.edu	37	chr9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagcactcactcatcgCgtgtgtagcaggggtagggg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000371605.3	-	14	2234	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	696					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2089-2091)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 2							37	40	39					9																	139912431		1997	4174	6171	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912431C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2087G>A	9.37:g.139912431C>T	ENSP00000360666:p.Arg696His					ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R696H	p.R697H			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2237	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	696					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2090G>A		.	.	.	.	.	.	.	.	.	.	c	20.8	4.049685	0.75846	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94497	-3.44;-3.44;-3.44	3.35	3.35	0.38373	.	0.146870	0.42294	U	0.000739	D	0.94013	0.8082	N	0.17800	0.525	0.53005	D	0.999966	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.944	D	0.94289	0.7527	10	0.48119	T	0.1	.	15.2097	0.73209	0.0:1.0:0.0:0.0	.	696;727	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	697;696;727;697	ENSP00000265662:R697H;ENSP00000360666:R696H;ENSP00000344155:R697H	ENSP00000265662:R697H	R	-	2	0	ABCA2	139032252	0.488000	0.25996	0.778000	0.31720	0.505000	0.33919	4.466000	0.60148	1.880000	0.54463	0.306000	0.20318	CGC		0.642	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		37	168	0	0	0	1	0	37	168					T	139912431	C	T	139912431	3	4	79	1	0	0	0	0	1	0	0	0	32	768	27	1	5360	1	ABCA2	9	139912431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781	139912431	1301000	10686	21003											
ABCA2	20	broad.mit.edu	37	chr9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaggaggcccaggttccGctgctccttgctcgtgaagc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000371605.3	-	9	1477	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	444					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1333-1335)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							70	85	80					9																	139914880		2161	4247	6408	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139914880G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1330C>T	9.37:g.139914880G>A	ENSP00000360666:p.Arg444Trp					ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R444W|ABCA2_ENST00000492260.1_5'UTR	p.R445W			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	10	1480	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	444					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1333C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323890|4.323890	0.81580|0.81580	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.89617	.|-2.54;-2.54;-2.54	4.64|4.64	3.7|3.7	0.42460|0.42460	.|.	.|0.149744	.|0.43260	.|U	.|0.000598	D|D	0.92691|0.92691	0.7677|0.7677	M|M	0.65975|0.65975	2.015|2.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.987;0.987	D|D	0.93110|0.93110	0.6516|0.6516	5|10	.|0.87932	.|D	.|0	.|.	11.9976|11.9976	0.53212|0.53212	0.0:0.0:0.6897:0.3103|0.0:0.0:0.6897:0.3103	.|.	.|444;474;475	.|Q9BZC7;E7EU84;E7ETC3	.|ABCA2_HUMAN;.;.	V|W	55|445;444;475;445	.|ENSP00000265662:R445W;ENSP00000360666:R444W;ENSP00000344155:R445W	.|ENSP00000265662:R445W	A|R	-|-	2|1	0|2	ABCA2|ABCA2	139034701|139034701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.091000|3.091000	0.50199|0.50199	2.113000|2.113000	0.64589|0.64589	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		63	354	0	0	0	1	0	63	354					A	139914880	G	A	139914880	3	1	79	1	0	0	0	0	1	0	0	0	32	1086	38	1	6137	1	ABCA2	9	139914880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2449	139914880	1298551	10687	21004											
C9orf139	401563	broad.mit.edu	37	chr9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagaaatgggtcagaacGaaagcctctcagaggaaaga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(481-483)Gaa>Aaa		chromosome 9 open reading frame 139							45	57	53					9																	139929414		2198	4295	6493	SO:0001583	missense	401563							g.chr9:139929414G>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>A	9.37:g.139929414G>A	ENSP00000318119:p.Glu161Lys						p.E161K	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1995	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	161					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.481G>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.285647	0.40394	.	.	ENSG00000180539	ENST00000314330	T	0.54675	0.56	2.64	0.667	0.17907	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.33846	0.171	T	0.12682	-1.0538	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	K	161	ENSP00000318119:E161K	ENSP00000318119:E161K	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA		0.632	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		90	483	0	0	0	1	0	90	483					A	139929414	G	A	139929414	3	1	79	1	0	0	0	0	1	0	0	0	2466	1059	37	1	487	1	C9orf139	9	139929414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14534	139929414	1284017	10688	21005											
ENTPD2	954	broad.mit.edu	37	chr9	139944442	139944442	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaaggcagagaaggcCtgtagggggcgcagtcacac	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139944442C>A	ENST00000355097.2	-	7	1077		c.e7-1		ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Splice_Site|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2						G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGAAGGCCTGTAGGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.e7-1		ectonucleoside triphosphate diphosphohydrolase 2							47	53	51					9																	139944442		2203	4300	6503	SO:0001630	splice_region_variant	954					integral to membrane	ATP binding	g.chr9:139944442C>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1030-1G>T	9.37:g.139944442C>A			OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Splice_Site		NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1077	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)						O15464|Q5SPY6|Q5SPY7	Splice_Site	SNP	ENST00000355097.2	37		CCDS7026.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658255	0.67586	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9858	0.80151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD2	139064263	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.269000	0.65542	2.208000	0.71279	0.561000	0.74099	.		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468	Intron	60	386	1	0	2.6711e-34	1	3.17551e-34	60	386					A	139944442	C	A	139944442	5	1	79	1	0	0	0	0	0	0	1	0	5157	695	24	3	470	3	ENTPD2	9	139944442	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15028	139944442	1268989	10689	21006											
DPP7	29952	broad.mit.edu	37	chr9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggcactcaggttcctccGaatctgtggtcagtggaaag	13	9	3	1	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(1276-1278)Cgg>Tgg		dipeptidyl-peptidase 7		G	TRP/ARG	6,4390	11.4+/-27.6	0,6,2192	87	56	66		1276	3.7	0	9	dbSNP_134	66	0,8600		0,0,4300	yes	missense	DPP7	NM_013379.2	101	0,6,6492	AA,AG,GG		0.0,0.1365,0.0462	probably-damaging	426/493	140005399	6,12990	2198	4300	6498	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140005399G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1276C>T	9.37:g.140005399G>A	ENSP00000360635:p.Arg426Trp						p.R426W	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	12	1280	-	all_cancers(76;0.0926)		426					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.1276C>T	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699278	0.48307	0.001365	0.0	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.72	3.71	0.42584	.	0.988395	0.08220	N	0.979309	D	0.89125	0.6626	L	0.57536	1.79	0.09310	N	1	D	0.56035	0.974	B	0.37943	0.261	T	0.81420	-0.0941	10	0.49607	T	0.09	-3.1443	11.0004	0.47602	0.0:0.0:0.7615:0.2385	.	426	Q9UHL4	DPP2_HUMAN	W	426	ENSP00000360635:R426W	ENSP00000360635:R426W	R	-	1	2	DPP7	139125220	0.014000	0.17966	0.008000	0.14137	0.018000	0.09664	1.387000	0.34430	2.169000	0.68431	0.561000	0.74099	CGG		0.652	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		23	121	0	0	0	1	0	23	121					A	140005399	G	A	140005399	3	1	79	1	0	0	0	0	1	0	0	0	4747	1057	37	1	210	1	DPP7	9	140005399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	140005399	1208032	10690	21007											
GRIN1	2902	broad.mit.edu	37	chr9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcctgggcatggtgtgGgccggctttgccatgatcat	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	636					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCATGGTGTGGGCCGGCTTTG	0.701																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1906-1908)tgG>tgA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						21	25	24					9																	140057086		2199	4293	6492	SO:0001587	stop_gained	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140057086G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1908G>A	9.37:g.140057086G>A	ENSP00000360616:p.Trp636*					GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*	p.W636*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	14	3005	+	all_cancers(76;0.0926)		636					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Nonsense_Mutation	SNP	ENST00000371561.3	37	c.1908G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	40	8.208381	0.98706	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.54	4.54	0.55810	.	0.185434	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8918	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	X	636;636;636;636;657;657;657;636;657	.	ENSP00000316696:W636X	W	+	3	0	GRIN1	139176907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.543000	0.82106	2.093000	0.63338	0.450000	0.29827	TGG		0.701	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		19	109	0	0	0	1	0	19	109					A	140057086	G	A	140057086	4	1	79	1	0	0	0	0	0	1	0	0	6808	1241	43	2	2029	2	GRIN1	9	140057086	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51687	140057086	1156345	10691	21008											
ANAPC2	29882	broad.mit.edu	37	chr9	140069809	140069809	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaatgacagagaaGgtgccggggggctcctcacg	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	TMEM210_ENST00000413619.2_5'Flank|ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	712					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(2134-2136)acC>acA		anaphase promoting complex subunit 2							31	30	30					9																	140069809		2195	4296	6491	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140069809G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2136C>A	9.37:g.140069809G>T						ANAPC2_ENST00000487917.1_5'UTR	p.T712T	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	12	2140	-	all_cancers(76;0.0926)		712					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.2136C>A	CCDS7033.1																																																																																				0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		27	136	1	0	1.12875e-08	1	1.18168e-08	27	136					T	140069809	G	T	140069809	2	4	79	1	0	0	0	0	0	0	0	1	603	987	35	3		3	ANAPC2	9	140069809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12723	140069809	1143622	10692	21009											
ANAPC2	29882	broad.mit.edu	37	chr9	140069920	140069920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagttcctccagggtccaGctggctgcgtgcagagtcac	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	ENST00000323927.2	-	12	2029	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	675					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCAGGGTCCAGCTGGCTGCGT	0.721																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(2023-2025)agC>agA		anaphase promoting complex subunit 2							13	12	12					9																	140069920		2174	4274	6448	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140069920G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2025C>A	9.37:g.140069920G>T	ENSP00000314004:p.Ser675Arg					ANAPC2_ENST00000487917.1_5'UTR	p.S675R	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	12	2029	-	all_cancers(76;0.0926)		675					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.2025C>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284595	0.23392	.	.	ENSG00000176248	ENST00000323927	T	0.73897	-0.79	4.42	3.53	0.40419	Cullin, N-terminal (1);Cullin homology (2);	0.332246	0.33712	N	0.004630	T	0.47507	0.1449	N	0.04335	-0.225	0.45676	D	0.998596	B;B	0.14012	0.009;0.007	B;B	0.20384	0.029;0.017	T	0.26121	-1.0112	10	0.20519	T	0.43	-19.6738	6.1082	0.20086	0.1034:0.1904:0.7061:0.0	.	675;672	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	R	675	ENSP00000314004:S675R	ENSP00000314004:S675R	S	-	3	2	ANAPC2	139189741	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	0.928000	0.28831	1.074000	0.40909	0.555000	0.69702	AGC		0.721	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		12	39	1	0	0.00010058	1	0.000102273	12	39					T	140069920	G	T	140069920	3	4	79	1	0	0	0	0	1	0	0	0	603	962	34	3	451	3	ANAPC2	9	140069920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	140069920	1143511	10693	21010											
ANAPC2	29882	broad.mit.edu	37	chr9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccctgcacacagcGggctctgcaggagccggtag	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(655-657)cCg>cTg		anaphase promoting complex subunit 2							78	78	78					9																	140082017		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082017G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.656C>T	9.37:g.140082017G>A	ENSP00000314004:p.Pro219Leu						p.P219L	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	660	-	all_cancers(76;0.0926)		219					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.656C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453188	0.12283	.	.	ENSG00000176248	ENST00000323927	T	0.03663	3.85	5.09	4.09	0.47781	.	0.243014	0.42964	D	0.000629	T	0.03053	0.0090	N	0.22421	0.69	0.44409	D	0.997329	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.52034	-0.8629	10	0.25751	T	0.34	-28.5775	11.4869	0.50358	0.0:0.0:0.8082:0.1918	.	219;219	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	219	ENSP00000314004:P219L	ENSP00000314004:P219L	P	-	2	0	ANAPC2	139201838	0.408000	0.25360	0.953000	0.39169	0.790000	0.44656	0.625000	0.24477	2.365000	0.80145	0.561000	0.74099	CCG		0.627	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		106	505	0	0	0	1	0	106	505					A	140082017	G	A	140082017	3	1	79	1	0	0	0	0	1	0	0	0	603	1116	39	1	1860	1	ANAPC2	9	140082017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12097	140082017	1131414	10694	21011											
NDOR1	27158	broad.mit.edu	37	chr9	140109118	140109118	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctggaccctgaccagctCttcatgctgcagccgcggga	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000344894.5	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000371521.4_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000458322.2_Silent_p.L273L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(817-819)ctC>ctA		NADPH dependent diflavin oxidoreductase 1							33	34	34					9																	140109118		2203	4299	6502	SO:0001819	synonymous_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109118C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.819C>A	9.37:g.140109118C>A						NDOR1_ENST00000344894.5_Silent_p.L273L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L	p.L273L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	7	902	+	all_cancers(76;0.0926)		273			FAD-binding FR-type.			Silent	SNP	ENST00000344894.5	37	c.819C>A	CCDS7036.1																																																																																				0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		60	249	1	0	1.1362e-29	1	1.32843e-29	60	249					A	140109118	C	A	140109118	2	1	79	1	0	0	0	0	0	0	0	1	10291	900	32	3		3	NDOR1	9	140109118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27101	140109118	1104313	10695	21012											
NDOR1	27158	broad.mit.edu	37	chr9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacttcccgcacacagCtgccgccatccctcccgact	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000344894.5	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000371521.4_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGCACACAGCTGCCGCCATC	0.652																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1090-1092)gCt>gAt		NADPH dependent diflavin oxidoreductase 1							83	65	71					9																	140109572		2202	4300	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109572C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1091C>A	9.37:g.140109572C>A	ENSP00000343344:p.Ala364Asp					NDOR1_ENST00000344894.5_Missense_Mutation_p.A364D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D	p.A364D	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1174	+	all_cancers(76;0.0926)		364			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1091C>A	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503587	0.64298	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.57	4.57	0.56435	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.055734	0.64402	D	0.000001	T	0.71913	0.3396	L	0.56769	1.78	0.44908	D	0.997925	D;B;P;D	0.53151	0.958;0.367;0.948;0.958	P;B;P;P	0.57468	0.821;0.14;0.726;0.821	T	0.73943	-0.3823	10	0.49607	T	0.09	-13.2222	16.2661	0.82579	0.0:1.0:0.0:0.0	.	364;330;364;364	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	D	364;330;364;364	ENSP00000389905:A364D;ENSP00000394309:A330D;ENSP00000360576:A364D;ENSP00000343344:A364D	ENSP00000343344:A364D	A	+	2	0	NDOR1	139229393	0.971000	0.33674	0.051000	0.19133	0.087000	0.18053	4.374000	0.59543	2.249000	0.74217	0.561000	0.74099	GCT		0.652	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		7	161	1	0	5.18039e-06	1	5.32547e-06	7	161					A	140109572	C	A	140109572	3	1	79	1	0	0	0	0	1	0	0	0	10291	797	28	3	1125	3	NDOR1	9	140109572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454	140109572	1103859	10696	21013											
NDOR1	27158	broad.mit.edu	37	chr9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcggcctgggagtctgGccttcccagagacaccagac	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000344894.5	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000371521.4_Missense_Mutation_p.A444T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1330-1332)Gcc>Acc		NADPH dependent diflavin oxidoreductase 1							47	52	50					9																	140110152		2202	4300	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110152G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1330G>A	9.37:g.140110152G>A	ENSP00000343344:p.Ala444Thr					NDOR1_ENST00000344894.5_Missense_Mutation_p.A444T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T	p.A444T	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1413	+	all_cancers(76;0.0926)		444			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1330G>A	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770454	0.15983	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03242	4.27;4.0;4.24;4.24	4.68	0.973	0.19710	Ferredoxin reductase-type FAD-binding domain (1);	0.403386	0.25701	N	0.028879	T	0.01156	0.0038	N	0.00666	-1.275	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47275	-0.9130	10	0.37606	T	0.19	-18.318	7.1715	0.25721	0.6166:0.0:0.3834:0.0	.	437;410;444;444	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	T	437;410;444;444	ENSP00000389905:A437T;ENSP00000394309:A410T;ENSP00000360576:A444T;ENSP00000343344:A444T	ENSP00000343344:A444T	A	+	1	0	NDOR1	139229973	0.846000	0.29590	0.432000	0.26747	0.903000	0.53119	1.231000	0.32624	0.298000	0.22638	0.561000	0.74099	GCC		0.642	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		80	347	0	0	0	1	0	80	347					A	140110152	G	A	140110152	3	1	79	1	0	0	0	0	1	0	0	0	10291	1203	42	2	1372	2	NDOR1	9	140110152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	580	140110152	1103279	10697	21014											
NDOR1	27158	broad.mit.edu	37	chr9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccaggctccagcagacaCggcgcttccagacagagacg	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000344894.5	+	14	1848	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	NDOR1_ENST00000371521.4_Missense_Mutation_p.R598W|NDOR1_ENST00000427047.2_3'UTR|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1792-1794)Cgg>Tgg		NADPH dependent diflavin oxidoreductase 1							35	39	38					9																	140110839		2203	4299	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110839C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1765C>T	9.37:g.140110839C>T	ENSP00000343344:p.Arg589Trp					NDOR1_ENST00000344894.5_Missense_Mutation_p.R589W|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR	p.R598W	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	14	1875	+	all_cancers(76;0.0926)		589						Missense_Mutation	SNP	ENST00000344894.5	37	c.1792C>T	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662550	0.29515	.	.	ENSG00000188566	ENST00000458322;ENST00000371521;ENST00000344894	T;T;T	0.78924	-1.22;-1.22;-1.22	3.93	-0.989	0.10242	.	0.777035	0.11604	N	0.547504	D	0.82518	0.5054	M	0.85945	2.785	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.989	P;P;P	0.54924	0.586;0.764;0.586	T	0.72107	-0.4390	10	0.72032	D	0.01	-4.7404	6.1079	0.20084	0.4665:0.4318:0.0:0.1017	.	582;598;589	D3YTG6;Q9UHB4-2;Q9UHB4	.;.;NDOR1_HUMAN	W	582;598;589	ENSP00000389905:R582W;ENSP00000360576:R598W;ENSP00000343344:R589W	ENSP00000343344:R589W	R	+	1	2	NDOR1	139230660	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.438000	0.06905	-0.003000	0.14444	0.561000	0.74099	CGG		0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		42	216	0	0	0	1	0	42	216					T	140110839	C	T	140110839	3	4	79	1	0	0	0	0	1	0	0	0	10291	527	19	1	1846	1	NDOR1	9	140110839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	140110839	1102592	10698	21015											
RNF208	727800	broad.mit.edu	37	chr9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtggacaatcttcatgGcctccatcttgaggatgaca	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208	32					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672																																						ENST00000392827.1																			0				lung(1)	1						c.(94-96)gCc>gTc		ring finger protein 208							16	20	19					9																	140115570		1965	4147	6112	SO:0001583	missense	727800						zinc ion binding	g.chr9:140115570G>A	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.95C>T	9.37:g.140115570G>A	ENSP00000376572:p.Ala32Val					RNF208_ENST00000391553.1_Missense_Mutation_p.A32V	p.A32V			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	263	-	all_cancers(76;0.0926)		32					A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	c.95C>T	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	g	16.65	3.183072	0.57800	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.36157	1.27;1.27	4.25	3.28	0.37604	.	.	.	.	.	T	0.24198	0.0586	N	0.14661	0.345	0.33036	D	0.53082	B	0.33612	0.419	B	0.35353	0.201	T	0.42032	-0.9475	9	0.87932	D	0	-12.8448	11.4687	0.50254	0.0:0.0:0.8194:0.1805	.	32	Q9H0X6	RN208_HUMAN	V	32	ENSP00000376572:A32V;ENSP00000375397:A32V	ENSP00000375397:A32V	A	-	2	0	RNF208	139235391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.320000	0.59203	1.915000	0.55452	0.556000	0.70494	GCC		0.672	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		14	70	0	0	0	1	0	14	70					A	140115570	G	A	140115570	3	1	79	1	0	0	0	0	1	0	0	0	13525	1203	42	2	694	2	RNF208	9	140115570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4731	140115570	1097861	10699	21016											
SLC34A3	142680	broad.mit.edu	37	chr9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcaacgccactaacaGcagtctcattaagcactggt	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	269					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(805-807)aGc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							82	80	80					9																	140128134		2203	4300	6503	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128134G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.806G>T	9.37:g.140128134G>T	ENSP00000442397:p.Ser269Ile					SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	8	1030	+	all_cancers(76;0.0926)		269					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.806G>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643950	0.14451	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.32753	1.44;1.44	3.05	2.13	0.27403	.	0.761983	0.11378	N	0.570085	T	0.23330	0.0564	L	0.47190	1.495	0.24118	N	0.995812	P	0.38335	0.627	B	0.31614	0.133	T	0.10823	-1.0613	10	0.54805	T	0.06	-3.5643	7.8826	0.29631	0.1326:0.0:0.8674:0.0	.	269	Q8N130	NPT2C_HUMAN	I	269	ENSP00000442397:S269I;ENSP00000355353:S269I	ENSP00000355353:S269I	S	+	2	0	SLC34A3	139247955	0.937000	0.31787	0.618000	0.29105	0.024000	0.10985	2.459000	0.45023	0.591000	0.29711	0.462000	0.41574	AGC		0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		59	461	1	0	9.10829e-22	1	1.02804e-21	59	461					T	140128134	G	T	140128134	3	4	79	1	0	0	0	0	1	0	0	0	14619	971	34	3	832	3	SLC34A3	9	140128134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12564	140128134	1085297	10700	21017											
SLC34A3	142680	broad.mit.edu	37	chr9	140128878	140128878	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccccacagacttccccttCccgctgggctggctcggcgg	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	368					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1102-1104)ttC>ttT		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							9	12	11					9																	140128878		2146	4241	6387	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128878C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1104C>T	9.37:g.140128878C>T						SLC34A3_ENST00000361134.2_Silent_p.F368F	p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1328	+	all_cancers(76;0.0926)		368					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1104C>T	CCDS7038.1																																																																																				0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		30	107	0	0	0	1	0	30	107					T	140128878	C	T	140128878	2	4	79	1	0	0	0	0	0	0	0	1	14619	854	30	2		2	SLC34A3	9	140128878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	744	140128878	1084553	10701	21018											
SLC34A3	142680	broad.mit.edu	37	chr9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctggccggcatcctgCtgtggtacctggtgcctgca	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	460					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1378-1380)Ctg>Atg		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							60	57	58					9																	140130446		2202	4294	6496	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130446C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1378C>A	9.37:g.140130446C>A	ENSP00000442397:p.Leu460Met		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1602	+	all_cancers(76;0.0926)		460					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1378C>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725024	0.48833	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88277	-2.36;-2.36	4.11	1.11	0.20524	.	0.148979	0.29321	N	0.012482	D	0.90417	0.7000	M	0.74258	2.255	0.28738	N	0.902132	D	0.56287	0.975	P	0.57720	0.826	D	0.84038	0.0363	10	0.87932	D	0	-4.6612	4.7646	0.13127	0.1719:0.6313:0.0:0.1968	.	460	Q8N130	NPT2C_HUMAN	M	460	ENSP00000442397:L460M;ENSP00000355353:L460M	ENSP00000355353:L460M	L	+	1	2	SLC34A3	139250267	0.990000	0.36364	0.886000	0.34754	0.730000	0.41778	0.730000	0.26043	0.124000	0.18369	0.407000	0.27541	CTG		0.697	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		91	452	1	0	7.62712e-44	1	9.32224e-44	91	452					A	140130446	C	A	140130446	3	1	79	1	0	0	0	0	1	0	0	0	14619	796	28	3	1424	3	SLC34A3	9	140130446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1568	140130446	1082985	10702	21019											
FAM166A	401565	broad.mit.edu	37	chr9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagatgtggttgctggGccagtgtgttccaggcagct	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	269						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(805-807)Ccc>Acc		family with sequence similarity 166, member A							129	99	109					9																	140138683		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140138683G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.805C>A	9.37:g.140138683G>T	ENSP00000344729:p.Pro269Thr						p.P269T	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			6	859	-			269					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.805C>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685172	0.47991	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.99	4.99	0.66335	.	0.080970	0.50627	D	0.000108	T	0.74099	0.3672	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70543	-0.4843	9	0.28530	T	0.3	-18.8756	16.0952	0.81114	0.0:0.0:1.0:0.0	.	269	Q6J272	F166A_HUMAN	T	269	.	ENSP00000344729:P269T	P	-	1	0	FAM166A	139258504	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.678000	0.74508	2.474000	0.83562	0.549000	0.68633	CCC		0.607	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		18	255	1	0	1.67942e-08	1	1.75525e-08	18	255					T	140138683	G	T	140138683	3	4	79	1	0	0	0	0	1	0	0	0	5502	1203	42	3	156	3	FAM166A	9	140138683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8237	140138683	1074748	10703	21020											
FAM166A	401565	broad.mit.edu	37	chr9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtgaagcctgcaggcaGcagaatctgtctgggtatgt	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	126						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(376-378)Ctg>Atg		family with sequence similarity 166, member A							84	99	94					9																	140139905		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140139905G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.376C>A	9.37:g.140139905G>T	ENSP00000344729:p.Leu126Met					FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	430	-			126					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.376C>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074671	0.07184	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	3.29	0.37713	.	0.996122	0.08132	N	0.993040	T	0.42810	0.1219	M	0.67953	2.075	0.09310	N	1	P	0.48911	0.917	B	0.41988	0.372	T	0.23190	-1.0195	9	0.38643	T	0.18	-2.6202	8.3479	0.32284	0.0:0.1705:0.6527:0.1767	.	126	Q6J272	F166A_HUMAN	M	126;126;153	.	ENSP00000344729:L126M	L	-	1	2	FAM166A	139259726	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.677000	0.25262	0.520000	0.28426	0.561000	0.74099	CTG		0.622	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		30	643	1	0	1.30897e-18	1	1.45408e-18	30	643					T	140139905	G	T	140139905	3	4	79	1	0	0	0	0	1	0	0	0	5502	962	34	3	597	3	FAM166A	9	140139905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	140139905	1073526	10704	21021											
C9orf173	441476	broad.mit.edu	37	chr9	140146307	140146307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacagacgggcaccccccaGgagtccctgcccacctacac	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140146307G>T	ENST00000412566.1	+	2	237	c.228G>T	c.(226-228)caG>caT	p.Q76H	C9orf173_ENST00000388931.3_Missense_Mutation_p.Q76H			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647																																						ENST00000388931.3																			0				kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						c.(226-228)caG>caT		chromosome 9 open reading frame 173							28	38	35					9																	140146307		1944	4125	6069	SO:0001583	missense	441476							g.chr9:140146307G>T		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.228G>T	9.37:g.140146307G>T	ENSP00000391218:p.Gln76His					C9orf173_ENST00000412566.1_Missense_Mutation_p.Q76H	p.Q76H	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN			2	254	+			76					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	c.228G>T	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170606	0.38315	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.47528	0.84;0.86	3.79	-0.842	0.10748	.	1.853770	0.03291	N	0.187588	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.004;0.004	B;B;B;B	0.08055	0.001;0.003;0.003;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	1.329	2.382	0.04357	0.1111:0.3402:0.3604:0.1883	.	76;76;76;76	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	H	76	ENSP00000373583:Q76H;ENSP00000391218:Q76H	ENSP00000373583:Q76H	Q	+	3	2	C9orf173	139266128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.163000	0.16520	-0.275000	0.09219	0.561000	0.74099	CAG		0.647	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		4	60	1	0	0.150653	1	0.150899	4	60					T	140146307	G	T	140146307	3	4	79	1	0	0	0	0	1	0	0	0	2479	991	35	3	234	3	C9orf173	9	140146307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6402	140146307	1067124	10705	21022											
COBRA1	25920	broad.mit.edu	37	chr9	140167012	140167012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcattcacctgcaccccaGggtggccccgtctaagctgg	10	17	3	0	rs368165032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140167012G>A	ENST00000343053.4	+	12	1878	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	514					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGCACCCCAGGGTGGCCCCG	0.687																																						ENST00000343053.4																			0											c.(1540-1542)aGg>aAg		negative elongation factor complex member B			LYS/ARG	1,4401		0,1,2200	23	22	22		1541	3.7	1	9		22	0,8596		0,0,4298	no	missense	COBRA1	NM_015456.3	26	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	514/581	140167012	1,12997	2201	4298	6499	SO:0001583	missense	25920							g.chr9:140167012G>A	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1541G>A	9.37:g.140167012G>A	ENSP00000339495:p.Arg514Lys						p.R514K	NM_015456.3	NP_056271.2					12	1878	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1541G>A	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	g	9.414	1.081248	0.20309	2.27E-4	0.0	ENSG00000188986	ENST00000343053	.	.	.	4.76	3.72	0.42706	.	0.049229	0.85682	D	0.000000	T	0.06416	0.0165	N	0.00246	-1.78	0.31905	N	0.615462	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	9	0.02654	T	1	-44.3331	3.7135	0.08428	0.3558:0.0:0.6442:0.0	.	514	Q8WX92	NELFB_HUMAN	K	514	.	ENSP00000339495:R514K	R	+	2	0	COBRA1	139286833	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.735000	0.68587	2.200000	0.70718	0.479000	0.44913	AGG		0.687	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		23	82	0	0	0	1	0	23	82					A	140167012	G	A	140167012	3	1	79	1	0	0	0	0	1	0	0	0	3664	1000	35	2	1587	2	COBRA1	9	140167012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20705	140167012	1046419	10706	21023											
C9orf167	54863	broad.mit.edu	37	chr9	140174189	140174189	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctggctgtgctgtccCgggagcatccgctgtggcag	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140174189C>A	ENST00000357503.2	+	2	1244	c.1048C>A	c.(1048-1050)Cgg>Agg	p.R350R		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	350					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										TGTGCTGTCCCGGGAGCATCC	0.726																																						ENST00000357503.2																			0											c.(1048-1050)Cgg>Agg		torsin family 4, member A							7	8	8					9																	140174189		2162	4252	6414	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140174189C>A	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.1048C>A	9.37:g.140174189C>A							p.R350R	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	1244	+			350					A2BFA4	Silent	SNP	ENST00000357503.2	37	c.1048C>A	CCDS7041.1																																																																																				0.726	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		4	52	1	0	0.00909568	1	0.00914726	4	52					A	140174189	C	A	140174189	2	1	79	1	0	0	0	0	0	0	0	1	2475	643	23	3		3	C9orf167	9	140174189	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7177	140174189	1039242	10707	21024											
EXD3	54932	broad.mit.edu	37	chr9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctcagaagggactgCtggccgggctgggggctggg	20	10	1	1	rs200221658	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2617-2619)aGc>aAc		exonuclease 3'-5' domain containing 3							17	21	20					9																	140201415		1901	4097	5998	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201415C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2618G>A	9.37:g.140201415C>T	ENSP00000340474:p.Ser873Asn					EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	p.S873N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			22	2813	-			873					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.2618G>A	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346028	0.41599	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66815	-0.23;0.66	2.84	2.84	0.33178	.	.	.	.	.	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.818	B;B	0.41174	0.349;0.257	T	0.32640	-0.9899	9	0.27082	T	0.32	.	9.2217	0.37382	0.0:1.0:0.0:0.0	.	511;873	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	511;873	ENSP00000343705:S511N;ENSP00000340474:S873N	ENSP00000340474:S873N	S	-	2	0	EXD3	139321236	0.000000	0.05858	0.019000	0.16419	0.185000	0.23345	0.565000	0.23578	1.576000	0.49790	0.491000	0.48974	AGC		0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		29	152	0	0	0	1	0	29	152					T	140201415	C	T	140201415	3	4	79	1	0	0	0	0	1	0	0	0	5317	797	28	2	16	2	EXD3	9	140201415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27226	140201415	1012016	10708	21025											
EXD3	54932	broad.mit.edu	37	chr9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaatgcttgagcacagcCttggcctgctgctgggcctt	12	11	0	2	rs575618411		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2122-2124)aaG>aaT		exonuclease 3'-5' domain containing 3																																				SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140218237C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2124G>T	9.37:g.140218237C>A	ENSP00000340474:p.Lys708Asn					EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	p.K708N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			19	2319	-			708					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.2124G>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833936	0.16820	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65364	-0.15;0.65	3.9	0.306	0.15806	.	0.652919	0.14754	N	0.300382	T	0.66247	0.2770	M	0.63843	1.955	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.58520	0.785;0.84	T	0.54814	-0.8237	10	0.45353	T	0.12	.	5.5666	0.17175	0.0:0.499:0.2567:0.2443	.	359;708	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	359;708	ENSP00000343705:K359N;ENSP00000340474:K708N	ENSP00000340474:K708N	K	-	3	2	EXD3	139338058	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.033000	0.13754	0.112000	0.17975	0.305000	0.20034	AAG		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		72	269	1	0	1.15062e-32	1	1.35981e-32	72	269					A	140218237	C	A	140218237	3	1	79	1	0	0	0	0	1	0	0	0	5317	680	24	3	522	3	EXD3	9	140218237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	140218237	995194	10709	21026											
EXD3	54932	broad.mit.edu	37	chr9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtggtggaggcggtggaCgtgtgccagcaggcagctcc	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.V143I	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(427-429)Gtc>Atc		exonuclease 3'-5' domain containing 3							31	38	36					9																	140267392		2085	4209	6294	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267392C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.427G>A	9.37:g.140267392C>T	ENSP00000340474:p.Val143Ile					EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	p.V143I	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	622	-			143					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.427G>A	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183685	0.01620	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52526	0.66;1.15	4.3	-1.78	0.07957	.	0.535908	0.19500	N	0.112760	T	0.28863	0.0716	L	0.43152	1.355	0.18873	N	0.999988	B;B	0.31968	0.195;0.349	B;B	0.17722	0.008;0.019	T	0.17471	-1.0368	10	0.19590	T	0.45	.	8.4683	0.32969	0.0:0.5041:0.0:0.4959	.	143;143	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	I	143	ENSP00000340474:V143I;ENSP00000431859:V143I	ENSP00000340474:V143I	V	-	1	0	EXD3	139387213	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.175000	0.09825	-0.873000	0.04032	0.313000	0.20887	GTC		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		18	280	0	0	0	1	0	18	280					T	140267392	C	T	140267392	3	4	79	1	0	0	0	0	1	0	0	0	5317	536	19	1	2275	1	EXD3	9	140267392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49155	140267392	946039	10710	21027											
NOXA1	377841	broad.mit.edu	37	chr9	140328493	140328493	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggccagaggacctggGcttccgacagggggacacgg	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328493G>A	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Missense_Mutation_p.G363D|NOXA1_ENST00000341349.2_Missense_Mutation_p.G419D			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GAGGACCTGGGCTTCCGACAG	0.701																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1255-1257)gGc>gAc		NADPH oxidase activator 1							15	18	17					9																	140328493		2166	4276	6442	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140328493G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140328493G>A						NOXA1_ENST00000392815.2_Missense_Mutation_p.G363D	p.G419D	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	13	1436	+	all_cancers(76;0.0926)		419		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	SH3.		A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.1256G>A	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.357746	0.00214	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	T;T	0.46451	0.87;0.87	4.22	-0.148	0.13424	Src homology-3 domain (4);	0.495722	0.19930	N	0.102897	T	0.19967	0.0480	N	0.16201	0.385	0.19575	N	0.999963	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.003	T	0.19128	-1.0315	10	0.19147	T	0.46	.	6.4852	0.22085	0.3799:0.5193:0.1007:0.0	.	363;419;419	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	D	419;363	ENSP00000342848:G419D;ENSP00000376562:G363D	ENSP00000342848:G419D	G	+	2	0	NOXA1	139448314	0.000000	0.05858	0.114000	0.21550	0.049000	0.14656	-0.063000	0.11655	-0.250000	0.09555	-0.658000	0.03865	GGC		0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		6	40	0	0	0	1	0	6	40					A	140328493	G	A	140328493	1	1	79	0	1	0	0	0	0	0	0	0	10602	1203	42	2		2	NOXA1	9	140328493	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61101	140328493	884938	10711	21028											
NOXA1	377841	broad.mit.edu	37	chr9	140328737	140328737	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatcttccccaagtgcttCgtggtccccgccggccctcg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328737C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Silent_p.F403F|NOXA1_ENST00000341349.2_Silent_p.F459F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCAAGTGCTTCGTGGTCCCCG	0.652																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1375-1377)ttC>ttT		NADPH oxidase activator 1							65	72	70					9																	140328737		2200	4294	6494	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140328737C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140328737C>T						NOXA1_ENST00000392815.2_Silent_p.F403F	p.F459F	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	14	1557	+	all_cancers(76;0.0926)		452		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.1377C>T	CCDS43913.1																																																																																				0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		165	876	0	0	0	1	0	165	876					T	140328737	C	T	140328737	1	4	79	0	1	0	0	0	0	0	0	0	10602	883	31	1		1	NOXA1	9	140328737	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	140328737	884694	10712	21029											
ENTPD8	377841	broad.mit.edu	37	chr9	140329483	140329483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgcccgccactgagcCggcgcatcggccgggatcat	12	17	2	1	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000472938.1	-	9	1387	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_ENST00000344119.2_Silent_p.P420P|ENTPD8_ENST00000371506.2_Silent_p.P457P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	457					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(1369-1371)ccG>ccA		ectonucleoside triphosphate diphosphohydrolase 8		C	,	0,4394		0,0,2197	49	48	49		1371,1260	-10.1	0	9	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ENTPD8	NM_001033113.1,NM_198585.2	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	457/496,420/459	140329483	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140329483C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1371G>A	9.37:g.140329483C>T						ENTPD8_ENST00000472938.1_Silent_p.P457P|ENTPD8_ENST00000344119.2_Silent_p.P420P	p.P457P	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	10	1554	-	all_cancers(76;0.0926)		457					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.1371G>A	CCDS43913.1																																																																																				0.677	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		35	109	0	0	0	1	0	35	109					T	140329483	C	T	140329483	2	4	79	1	0	0	0	0	0	0	0	1	5163	639	23	1		1	ENTPD8	9	140329483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	140329483	883948	10713	21030											
ENTPD8	377841	broad.mit.edu	37	chr9	140330977	140330977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggccagctgacctgtAccagccccacgaggagcctg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	ENST00000472938.1	-	5	798	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000371506.2_Missense_Mutation_p.V261A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	261					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGACCTGTACCAGCCCCAC	0.662																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(781-783)gTa>gCa		ectonucleoside triphosphate diphosphohydrolase 8							23	23	23					9																	140330977		2194	4294	6488	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330977A>G	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.782T>C	9.37:g.140330977A>G	ENSP00000420531:p.Val261Ala					ENTPD8_ENST00000472938.1_Missense_Mutation_p.V261A|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A	p.V261A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	6	965	-	all_cancers(76;0.0926)		261					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.782T>C	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353960	0.24512	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12984	2.63;2.63;2.63	3.99	-2.05	0.07321	.	0.621973	0.13266	N	0.400894	T	0.09069	0.0224	L	0.50847	1.595	0.22639	N	0.998904	B;B	0.14012	0.005;0.009	B;B	0.17979	0.013;0.02	T	0.36962	-0.9726	10	0.21014	T	0.42	8.9172	1.613	0.02698	0.4808:0.1314:0.2591:0.1287	.	261;261	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	A	261	ENSP00000344089:V261A;ENSP00000360561:V261A;ENSP00000420531:V261A	ENSP00000344089:V261A	V	-	2	0	ENTPD8	139450798	0.000000	0.05858	0.825000	0.32803	0.036000	0.12997	-0.289000	0.08365	-0.149000	0.11215	0.379000	0.24179	GTA		0.662	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		10	40	0	0	0	1	0	10	40					G	140330977	A	G	140330977	3	3	79	1	0	0	0	0	1	0	0	0	5163	391	14	4	725	4	ENTPD8	9	140330977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1494	140330977	882454	10714	21031											
ENTPD8	377841	broad.mit.edu	37	chr9	140331021	140331021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatctggtcccgtccaaaGcacaggtagctgtgagtgta	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000472938.1	-	5	754	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000344119.2_Silent_p.C246C|ENTPD8_ENST00000371506.2_Silent_p.C246C			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	246					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(736-738)tgC>tgT		ectonucleoside triphosphate diphosphohydrolase 8							38	35	36					9																	140331021		2198	4297	6495	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331021G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.738C>T	9.37:g.140331021G>A						ENTPD8_ENST00000472938.1_Silent_p.C246C|ENTPD8_ENST00000344119.2_Silent_p.C246C	p.C246C	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	6	921	-	all_cancers(76;0.0926)		246					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.738C>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644662	0.29246	.	.	ENSG00000188833	ENST00000493135	T	0.48201	0.82	4.36	4.36	0.52297	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64854	-0.6309	6	0.52906	T	0.07	-2.6203	15.6194	0.76793	0.0:0.0:1.0:0.0	.	.	.	.	F	221	ENSP00000420099:L221F	ENSP00000420099:L221F	L	-	1	0	ENTPD8	139450842	1.000000	0.71417	0.982000	0.44146	0.455000	0.32408	3.237000	0.51344	2.257000	0.74773	0.462000	0.41574	CTT		0.632	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		13	71	0	0	0	1	0	13	71					A	140331021	G	A	140331021	2	1	79	1	0	0	0	0	0	0	0	1	5163	963	34	2		2	ENTPD8	9	140331021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	140331021	882410	10715	21032											
PNPLA7	375775	broad.mit.edu	37	chr9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggatgccgcactccGccaaggccttgagaacgccc	11	17	0	1	rs538892595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.001					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2917-2919)gCg>gTg		patatin-like phospholipase domain containing 7							87	72	77					9																	140361890		2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361890G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	9.37:g.140361890G>A	ENSP00000277531:p.Ala948Val					PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000277531.4_Missense_Mutation_p.A948V|PNPLA7_ENST00000492278.1_5'UTR	p.A973V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3254	-	all_cancers(76;0.126)		948			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2918C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		16	336	0	0	0	1	0	16	336					A	140361890	G	A	140361890	3	1	79	1	0	0	0	0	1	0	0	0	12212	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30869	140361890	851541	10716	21033											
PNPLA7	375775	broad.mit.edu	37	chr9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgcagtcggcctggcGcacgcagcgctgggtccagg	18	12	0	0	rs150851825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16521	0.0		0.001	False		,,,				2504	0.0					ENST00000406427.1																			1	Substitution - Missense(1)	p.R816C(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2521-2523)Cgc>Tgc		patatin-like phospholipase domain containing 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	47	50		2521,2446	4.9	1	9	dbSNP_134	50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	841/1343,816/1318	140374823	2,13002	2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374823G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2446C>T	9.37:g.140374823G>A	ENSP00000277531:p.Arg816Cys					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R816C	p.R841C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	23	2857	-	all_cancers(76;0.126)		816					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2521C>T	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	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;1.0;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	PNPLA7	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC		0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		41	253	0	0	0	1	0	41	253					A	140374823	G	A	140374823	3	1	79	1	0	0	0	0	1	0	0	0	12212	1087	38	1	1559	1	PNPLA7	9	140374823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12933	140374823	838608	10717	21034											
PNPLA7	375775	broad.mit.edu	37	chr9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcaaagtcgatttgccGcacgaaggacgacatcctct	11	12	1	0	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000277531.4	-	16	1942	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	586					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.0					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1831-1833)Cgg>Tgg		patatin-like phospholipase domain containing 7		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	154	116	129		1831,1756	2.2	1	9	dbSNP_134	129	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	611/1343,586/1318	140392624	1,12999	2201	4299	6500	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140392624G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1756C>T	9.37:g.140392624G>A	ENSP00000277531:p.Arg586Trp					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R586W	p.R611W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	17	2167	-	all_cancers(76;0.126)		586					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1831C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974443	0.74246	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	2.19	0.27852	Cyclic nucleotide-binding-like (2);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-25.6295	11.2036	0.48756	0.0:0.0:0.6261:0.3739	.	611;586	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	192;586;611;586;577	ENSP00000360512:R192W;ENSP00000277531:R586W;ENSP00000384610:R611W;ENSP00000400582:R577W	ENSP00000277531:R586W	R	-	1	2	PNPLA7	139512445	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.023000	0.13533	0.859000	0.35456	0.448000	0.29417	CGG		0.627	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		65	332	0	0	0	1	0	65	332					A	140392624	G	A	140392624	3	1	79	1	0	0	0	0	1	0	0	0	12212	1086	38	1	2273	1	PNPLA7	9	140392624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17801	140392624	820807	10718	21035											
PNPLA7	375775	broad.mit.edu	37	chr9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtatctctgcaaccatcacGcttttcctggactggagaag	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000277531.4	-	13	1449	c.1263C>A	c.(1261-1263)agC>agA	p.S421R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1336-1338)agC>agA		patatin-like phospholipase domain containing 7							153	134	141					9																	140400201		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140400201G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1263C>A	9.37:g.140400201G>T	ENSP00000277531:p.Ser421Arg					PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S421R	p.S446R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	14	1674	-	all_cancers(76;0.126)		421	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1338C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410125	0.11812	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.23;0.23;0.24	4.26	-8.53	0.00916	.	0.823959	0.11124	N	0.597110	T	0.59238	0.2179	L	0.57536	1.79	0.37440	D	0.914394	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.11690	-1.0577	10	0.37606	T	0.19	-2.0329	11.2443	0.48987	0.7541:0.0:0.129:0.1169	.	446;421	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	27;421;446;421;412	ENSP00000360512:S27R;ENSP00000277531:S421R;ENSP00000384610:S446R;ENSP00000400582:S412R	ENSP00000277531:S421R	S	-	3	2	PNPLA7	139520022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.997000	0.01470	-2.187000	0.00759	-0.482000	0.04802	AGC		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		112	571	1	0	1.99536e-56	1	2.497e-56	112	571					T	140400201	G	T	140400201	3	4	79	1	0	0	0	0	1	0	0	0	12212	1078	38	3	2778	3	PNPLA7	9	140400201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7577	140400201	813230	10719	21036											
PNPLA7	375775	broad.mit.edu	37	chr9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctctgtggtcaggccgaGgtagttgtgcagagccagaa	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000277531.4	-	9	1039	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	285					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(928-930)Ctc>Atc		patatin-like phospholipase domain containing 7							171	138	149					9																	140416117		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140416117G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.853C>A	9.37:g.140416117G>T	ENSP00000277531:p.Leu285Ile					PNPLA7_ENST00000277531.4_Missense_Mutation_p.L285I	p.L310I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	10	1264	-	all_cancers(76;0.126)		285					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.928C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563386	0.45694	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.76968	1.24;-1.04;-1.06;-1.01	4.75	1.35	0.21983	.	0.160277	0.42964	D	0.000622	D	0.86222	0.5881	M	0.83483	2.645	0.21822	N	0.999529	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.956	T	0.76838	-0.2811	10	0.87932	D	0	-18.4941	9.378	0.38295	0.2962:0.0:0.7038:0.0	.	16;310;285	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	I	16;285;310;285;276;310	ENSP00000360501:L16I;ENSP00000277531:L285I;ENSP00000384610:L310I;ENSP00000400582:L276I	ENSP00000277531:L285I	L	-	1	0	PNPLA7	139535938	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.341000	0.43983	0.422000	0.26005	0.313000	0.20887	CTC		0.592	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		28	347	1	0	1.16021e-09	1	1.22295e-09	28	347					T	140416117	G	T	140416117	3	4	79	1	0	0	0	0	1	0	0	0	12212	1000	35	3	3204	3	PNPLA7	9	140416117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15916	140416117	797314	10720	21037											
PNPLA7	375775	broad.mit.edu	37	chr9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctccttgggctgcaGggccgggtattccttcttga	16	11	1	1	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000277531.4	-	5	508	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	108					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(397-399)Ctg>Atg		patatin-like phospholipase domain containing 7							42	46	44					9																	140437993		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437993G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.322C>A	9.37:g.140437993G>T	ENSP00000277531:p.Leu108Met					PNPLA7_ENST00000277531.4_Missense_Mutation_p.L108M	p.L133M	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	733	-	all_cancers(76;0.126)		108					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.397C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519916	0.64634	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.64438	-0.09;-0.1;-0.08	4.19	0.496	0.16896	.	0.084717	0.49916	D	0.000137	T	0.72415	0.3457	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.70769	-0.4782	10	0.66056	D	0.02	-17.7145	8.5224	0.33285	0.3393:0.0:0.6607:0.0	.	133;108	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	M	108;133;108;99;133	ENSP00000277531:L108M;ENSP00000384610:L133M;ENSP00000400582:L99M	ENSP00000277531:L108M	L	-	1	2	PNPLA7	139557814	1.000000	0.71417	0.843000	0.33291	0.982000	0.71751	2.622000	0.46427	0.135000	0.18707	0.563000	0.77884	CTG		0.572	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		51	272	1	0	1.21353e-23	1	1.38083e-23	51	272					T	140437993	G	T	140437993	3	4	79	1	0	0	0	0	1	0	0	0	12212	991	35	3	3751	3	PNPLA7	9	140437993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21876	140437993	775438	10721	21038											
ZMYND19	116225	broad.mit.edu	37	chr9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcccccccggtgccGctccctagaaacagacagca	10	19	0	2	rs368548125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(223-225)Cgg>Tgg		zinc finger, MYND-type containing 19		G	TRP/ARG	0,4406		0,0,2203	47	56	53		223	4.2	1	9		53	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZMYND19	NM_138462.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	75/228	140481555	1,13003	2203	4299	6502	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481555G>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.223C>T	9.37:g.140481555G>A	ENSP00000298585:p.Arg75Trp					ZMYND19_ENST00000471957.1_5'UTR	p.R75W	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	449	-	all_cancers(76;0.106)		75					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.223C>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177643	0.78564	0.0	1.16E-4	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.53530	0.1802	L	0.29908	0.895	0.50171	D	0.999857	D	0.69078	0.997	D	0.63597	0.916	T	0.56541	-0.7962	9	0.87932	D	0	-14.4175	6.0353	0.19704	0.0904:0.0:0.6267:0.2829	.	75	Q96E35	ZMY19_HUMAN	W	75	.	ENSP00000298585:R75W	R	-	1	2	ZMYND19	139601376	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.002000	0.49496	1.355000	0.45865	0.655000	0.94253	CGG		0.617	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		83	463	0	0	0	1	0	83	463					A	140481555	G	A	140481555	3	1	79	1	0	0	0	0	1	0	0	0	17763	1086	38	1	472	1	ZMYND19	9	140481555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43562	140481555	731876	10722	21039											
ARRDC1	92714	broad.mit.edu	37	chr9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgcacccacgtcctttGagggtcctttcgggaagatc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	101						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(301-303)Gag>Aag		arrestin domain containing 1							120	106	110					9																	140508087		2203	4300	6503	SO:0001583	missense	92714							g.chr9:140508087G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.301G>A	9.37:g.140508087G>A	ENSP00000360475:p.Glu101Lys					ARRDC1_ENST00000491911.1_3'UTR	p.E101K	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	4	365	+	all_cancers(76;0.106)		101						Missense_Mutation	SNP	ENST00000371421.4	37	c.301G>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	34	5.359037	0.95854	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.095855	0.64402	D	0.000001	T	0.47078	0.1426	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	D;D;D	0.81914	0.914;0.995;0.936	T	0.46693	-0.9173	10	0.72032	D	0.01	-9.174	18.7737	0.91901	0.0:0.0:1.0:0.0	.	101;101;101	Q5T371;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	K	101	ENSP00000360475:E101K;ENSP00000406247:E101K;ENSP00000406833:E101K	ENSP00000360475:E101K	E	+	1	0	ARRDC1	139627908	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.052000	0.93855	2.684000	0.91462	0.555000	0.69702	GAG		0.597	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		84	356	0	0	0	1	0	84	356					A	140508087	G	A	140508087	3	1	79	1	0	0	0	0	1	0	0	0	983	1291	45	2	315	2	ARRDC1	9	140508087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26532	140508087	705344	10723	21040											
ARRDC1	92714	broad.mit.edu	37	chr9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccaagcgctggatccacGacgtacggaccattgcggag	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	218						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(652-654)Gac>Aac		arrestin domain containing 1							65	74	71					9																	140508784		2202	4299	6501	SO:0001583	missense	92714							g.chr9:140508784G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.652G>A	9.37:g.140508784G>A	ENSP00000360475:p.Asp218Asn					ARRDC1_ENST00000491911.1_3'UTR	p.D218N	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	6	716	+	all_cancers(76;0.106)		218						Missense_Mutation	SNP	ENST00000371421.4	37	c.652G>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915370	0.73098	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.17691	3.29;2.26	5.15	4.25	0.50352	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.28808	-1.0032	10	0.56958	D	0.05	-8.9991	12.5194	0.56050	0.0808:0.0:0.9192:0.0	.	107;218;182	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	N	218;182	ENSP00000360475:D218N;ENSP00000406833:D182N	ENSP00000360475:D218N	D	+	1	0	ARRDC1	139628605	1.000000	0.71417	0.599000	0.28851	0.570000	0.35934	9.262000	0.95591	1.170000	0.42753	0.555000	0.69702	GAC		0.682	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		150	607	0	0	0	1	0	150	607					A	140508784	G	A	140508784	3	1	79	1	0	0	0	0	1	0	0	0	983	1058	37	1	674	1	ARRDC1	9	140508784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	140508784	704647	10724	21041											
C9orf37	85026	broad.mit.edu	37	chr9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcttgcccaggtccctccGacaggagaccctgctccctg	12	17	0	1	rs377174218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672																																						ENST00000371417.3																			0				breast(1)|large_intestine(2)	3						c.(442-444)Cgg>Tgg		chromosome 9 open reading frame 37		G	TRP/ARG	0,4404		0,0,2202	32	30	31		442	-3.6	0	9		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf37	NM_032937.4	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	148/177	140510210	1,13003	2202	4300	6502	SO:0001583	missense	85026							g.chr9:140510210G>A																												ENST00000371417.3:c.442C>T	9.37:g.140510210G>A	ENSP00000360471:p.Arg148Trp					C9orf37_ENST00000496793.1_5'UTR	p.R148W	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	982	-	all_cancers(76;0.106)		148					Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	37	c.442C>T	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111259	0.20714	0.0	1.16E-4	ENSG00000203993	ENST00000371417	.	.	.	1.8	-3.61	0.04556	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	3.1811	0.06584	0.2721:0.0:0.4737:0.2542	.	148	Q9H2J1	CI037_HUMAN	W	148	.	ENSP00000360471:R148W	R	-	1	2	C9orf37	139630031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.872000	0.01639	-0.726000	0.04895	-0.734000	0.03567	CGG		0.672	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			36	146	0	0	0	1	0	36	146					A	140510210	G	A	140510210	3	1	79	1	0	0	0	0	1	0	0	0	2486	1057	37	1	92	1	C9orf37	9	140510210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1426	140510210	703221	10725	21042											
EHMT1	79813	broad.mit.edu	37	chr9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacaggcacagcccttgaGgactaccagcactctggcct	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000460843.1	+	3	440	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(412-414)aGg>aAg		euchromatic histone-lysine N-methyltransferase 1							64	67	66					9																	140611405		2202	4299	6501	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611405G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.413G>A	9.37:g.140611405G>A	ENSP00000417980:p.Arg138Lys					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	p.R138K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	440	+	all_cancers(76;0.164)		138					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.413G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673887	0.88445	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.79033	0.74;-0.0;-1.23	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67953	2.075	0.43160	D	0.99494	D;D;D	0.76494	0.986;0.997;0.999	D;D;D	0.81914	0.968;0.991;0.995	D	0.88340	0.2974	10	0.72032	D	0.01	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	107;107;138;138	ENSP00000334476:R107K;ENSP00000417328:R138K;ENSP00000417980:R138K	ENSP00000334476:R107K	R	+	2	0	EHMT1	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		78	390	0	0	0	1	0	78	390					A	140611405	G	A	140611405	3	1	79	1	0	0	0	0	1	0	0	0	4999	1000	35	2	423	2	EHMT1	9	140611405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101195	140611405	602026	10726	21043											
EHMT1	79813	broad.mit.edu	37	chr9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgaagtgctgccgggCcaccactctcggaggacgac	12	16	1	1	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000460843.1	+	13	2056	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	677					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2029-2031)Cca>Tca		euchromatic histone-lysine N-methyltransferase 1							101	118	112					9																	140672344		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140672344C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2029C>T	9.37:g.140672344C>T	ENSP00000417980:p.Pro677Ser					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	p.P677S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	13	2056	+	all_cancers(76;0.164)		677					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2029C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312869	0.23908	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.68181	1.79;1.04;-0.31	4.66	-0.427	0.12310	.	0.780783	0.11933	N	0.515534	T	0.37210	0.0995	N	0.11427	0.14	0.09310	N	1	B;B;B	0.24132	0.002;0.098;0.004	B;B;B	0.23716	0.003;0.048;0.009	T	0.19844	-1.0293	10	0.13470	T	0.59	.	2.8511	0.05558	0.3537:0.4192:0.1222:0.1049	.	677;646;677	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	646;646;677;677	ENSP00000334476:P646S;ENSP00000417328:P677S;ENSP00000417980:P677S	ENSP00000334476:P646S	P	+	1	0	EHMT1	139792165	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.106000	0.17784	0.561000	0.74099	CCA		0.602	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		192	968	0	0	0	1	0	192	968					T	140672344	C	T	140672344	3	4	79	1	0	0	0	0	1	0	0	0	4999	739	26	2	2079	2	EHMT1	9	140672344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60939	140672344	541087	10727	21044											
EHMT1	79813	broad.mit.edu	37	chr9	140711975	140711975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggcacctttgtctgCgagtgagtgagtccctgggt	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1153	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3457-3459)tgC>tgT		euchromatic histone-lysine N-methyltransferase 1							71	69	70					9																	140711975		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140711975C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3459C>T	9.37:g.140711975C>T							p.C1153C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	24	3486	+	all_cancers(76;0.164)		1153			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3459C>T	CCDS7050.2																																																																																				0.612	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		42	266	0	0	0	1	0	42	266					T	140711975	C	T	140711975	2	4	79	1	0	0	0	0	0	0	0	1	4999	776	27	1		1	EHMT1	9	140711975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39631	140711975	501456	10728	21045											
EHMT1	79813	broad.mit.edu	37	chr9	140728842	140728842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgcggttctacgggaaCgtcagccggttcatcaacca	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3580-3582)aaC>aaT		euchromatic histone-lysine N-methyltransferase 1							70	67	68					9																	140728842		2202	4300	6502	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728842C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3582C>T	9.37:g.140728842C>T							p.N1194N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3609	+	all_cancers(76;0.164)		1194			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3582C>T	CCDS7050.2																																																																																				0.667	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		56	247	0	0	0	1	0	56	247					T	140728842	C	T	140728842	2	4	79	1	0	0	0	0	0	0	0	1	4999	535	19	1		1	EHMT1	9	140728842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16867	140728842	484589	10729	21046											
EHMT1	79813	broad.mit.edu	37	chr9	140729348	140729348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcgcggcccaggaGgcccaggaggacggcttgcc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	ENST00000460843.1	+	27	3867	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGCCCAGGAGGCCCAGGAGG	0.756																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3838-3840)gaG>gaA		euchromatic histone-lysine N-methyltransferase 1							10	11	11					9																	140729348		2161	4158	6319	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140729348G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3840G>A	9.37:g.140729348G>A							p.E1280E	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	27	3867	+	all_cancers(76;0.164)		1280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3840G>A	CCDS7050.2																																																																																				0.756	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		19	112	0	0	0	1	0	19	112					A	140729348	G	A	140729348	2	1	79	1	0	0	0	0	0	0	0	1	4999	991	35	2		2	EHMT1	9	140729348	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140729348	484083	10730	21047											
CACNA1B	774	broad.mit.edu	37	chr9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagttccacaaggcctgtttCcccaacagcacaggtgaggc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	254					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCCTGTTTCCCCAACAGCA	0.562																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(760-762)ttC>ttA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						83	81	82					9																	140809245		2129	4252	6381	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809245C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.762C>A	9.37:g.140809245C>A	ENSP00000360423:p.Phe254Leu					CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L	p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	907	+	all_cancers(76;0.166)		254					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.762C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151009	0.38021	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.34	3.44	0.39384	.	0.111472	0.64402	D	0.000006	D	0.95887	0.8661	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.45753	0.492	D	0.94161	0.7414	10	0.51188	T	0.08	.	8.9929	0.36035	0.0:0.8203:0.0:0.1797	.	254	B1AQK6	.	L	254	ENSP00000360423:F254L;ENSP00000277551:F254L;ENSP00000360414:F254L;ENSP00000360408:F254L;ENSP00000360406:F254L	ENSP00000277551:F254L	F	+	3	2	CACNA1B	139929066	0.980000	0.34600	0.998000	0.56505	0.929000	0.56500	2.042000	0.41222	1.011000	0.39340	0.561000	0.74099	TTC		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		18	122	1	0	4.35082e-09	1	4.56966e-09	18	122					A	140809245	C	A	140809245	3	1	79	1	0	0	0	0	1	0	0	0	2546	854	30	3	780	3	CACNA1B	9	140809245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79897	140809245	404186	10731	21048											
CACNA1B	774	broad.mit.edu	37	chr9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaacactccgtggatgCcacctatgaggagcagggtc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000371372.1	+	28	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1377					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGTGGATGCCACCTATGAG	0.547																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1717-1719)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						166	154	158					9																	140952524		2020	4201	6221	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140952524C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4130C>T	9.37:g.140952524C>T	ENSP00000360423:p.Ala1377Val					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V	p.A573V			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	29	4287	+	all_cancers(76;0.166)		1377					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1718C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199806	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.46819	1.47	0.80722	D	1	B;P;P	0.41498	0.255;0.752;0.752	B;P;P	0.51742	0.228;0.678;0.678	D	0.95465	0.8546	10	0.23302	T	0.38	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	1377;1378;1377	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1377;1377;573;1377;1378;1378	ENSP00000360423:A1377V;ENSP00000277551:A1377V;ENSP00000277549:A573V;ENSP00000360414:A1377V;ENSP00000360408:A1378V;ENSP00000360406:A1378V	ENSP00000277549:A573V	A	+	2	0	CACNA1B	140072345	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.708000	0.84633	2.682000	0.91365	0.555000	0.69702	GCC		0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		57	241	0	0	0	1	0	57	241					T	140952524	C	T	140952524	3	4	79	1	0	0	0	0	1	0	0	0	2546	739	26	2	4240	2	CACNA1B	9	140952524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143279	140952524	260907	10732	21049											
CACNA1B	774	broad.mit.edu	37	chr9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaagagagtggcatcaaaGagtctgtctcctggggcact	12	10	3	2	rs377467706		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000371372.1	+	43	5948	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCATCAAAGAGTCTGTCTC	0.572																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3385-3387)Gag>Tag		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						25	28	27					9																	141012423		1911	4131	6042	SO:0001587	stop_gained	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012423G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5803G>T	9.37:g.141012423G>T	ENSP00000360423:p.Glu1935*					CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*	p.E1129*			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	43	5954	+	all_cancers(76;0.166)		1935					B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	37	c.3385G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	56	26.658571	0.99969	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	3.94	3.94	0.45596	.	25.295300	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9521	0.64123	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1935;1129;1933;1934;1936	.	ENSP00000277549:E1129X	E	+	1	0	CACNA1B	140132244	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.036000	0.60181	0.561000	0.74099	GAG		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	62	1	0	0.000274275	1	0.000278163	9	62					T	141012423	G	T	141012423	4	4	79	1	0	0	0	0	0	1	0	0	2546	943	33	3	5969	3	CACNA1B	9	141012423	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59899	141012423	201008	10733	21050											
CACNA1B	774	broad.mit.edu	37	chr9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttccgtgaatgggaGccccttgctgtcaacatctg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000371372.1	+	47	6657	c.6512G>T	c.(6511-6513)aGc>aTc	p.S2171I	CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2171					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAATGGGAGCCCCTTGCTG	0.557																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4093-4095)aGc>aTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						39	43	41					9																	141015943		1921	4114	6035	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015943G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6512G>T	9.37:g.141015943G>T	ENSP00000360423:p.Ser2171Ile					CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2171I|CACNA1B_ENST00000277551.2_Intron	p.S1365I			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6663	+	all_cancers(76;0.166)		2171				Calcium ion selectivity and permeability (By similarity).	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4094G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936637	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98567	-4.71;-5.0;-4.72;-4.71;-4.69	5.0	5.0	0.66597	.	0.124902	0.52532	D	0.000068	D	0.98482	0.9494	M	0.79258	2.445	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54629	0.757;0.757	D	0.99640	1.0988	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2170;2169	B1AQK7;B1AQK6	.;.	I	2171;1365;2169;2170;2172	ENSP00000360423:S2171I;ENSP00000277549:S1365I;ENSP00000360414:S2169I;ENSP00000360408:S2170I;ENSP00000360406:S2172I	ENSP00000277549:S1365I	S	+	2	0	CACNA1B	140135764	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.927000	0.92846	2.319000	0.78375	0.561000	0.74099	AGC		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		54	227	1	0	7.92265e-33	1	9.37054e-33	54	227					T	141015943	G	T	141015943	3	4	79	1	0	0	0	0	1	0	0	0	2546	971	34	3	6694	3	CACNA1B	9	141015943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3520	141015943	197488	10734	21051											
CACNA1B	774	broad.mit.edu	37	chr9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgaggcctctgtccacGccctgcctgaggacactctc	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000371372.1	+	47	6959	c.6814G>A	c.(6814-6816)Gcc>Acc	p.A2272T	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2272					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGTCCACGCCCTGCCTGA	0.647																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4396-4398)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						42	46	45					9																	141016245		2070	4191	6261	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016245G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6814G>A	9.37:g.141016245G>A	ENSP00000360423:p.Ala2272Thr					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2272T|CACNA1B_ENST00000277551.2_Silent_p.T2209T	p.A1466T			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6965	+	all_cancers(76;0.166)		2272					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4396G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311920	0.23821	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-3.96;-4.18;-3.95;-3.94;-3.94	5.11	-6.17	0.02091	.	0.987100	0.08256	N	0.973720	D	0.90896	0.7139	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.79313	-0.1855	10	0.12766	T	0.61	.	9.4673	0.38820	0.1512:0.2673:0.5814:0.0	.	2271;2270	B1AQK7;B1AQK6	.;.	T	2272;1466;2270;2271;2273	ENSP00000360423:A2272T;ENSP00000277549:A1466T;ENSP00000360414:A2270T;ENSP00000360408:A2271T;ENSP00000360406:A2273T	ENSP00000277549:A1466T	A	+	1	0	CACNA1B	140136066	0.000000	0.05858	0.003000	0.11579	0.919000	0.55068	-0.452000	0.06787	-1.095000	0.03050	-0.378000	0.06908	GCC		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		13	342	0	0	0	1	0	13	342					A	141016245	G	A	141016245	3	1	79	1	0	0	0	0	1	0	0	0	2546	1087	38	1	6996	1	CACNA1B	9	141016245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	141016245	197186	10735	21052											
ZMYND11	10771	broad.mit.edu	37	chr10	294415	294415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgcatcggagcacccAgaccacaaacgacggcgtgt	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000397962.3	+	13	1795	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	456	Interaction with human adenovirus E1A.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGAGCACCCAGACCACAAAC	0.502																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1366-1368)cAg>cGg		zinc finger, MYND-type containing 11							115	108	111					10																	294415		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294415A>G	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1367A>G	10.37:g.294415A>G	ENSP00000381053:p.Gln456Arg					ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R	p.Q456R			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1795	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	416			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1367A>G	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745747	0.89663	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.29908	0.895	0.36571	D	0.873003	D;D;P;P;D;P;D;D;P;D	0.59357	0.984;0.984;0.895;0.956;0.984;0.936;0.965;0.985;0.956;0.965	P;P;P;P;P;P;P;P;P;P	0.61201	0.724;0.632;0.452;0.549;0.724;0.885;0.65;0.643;0.549;0.65	T	0.63659	-0.6587	8	0.33940	T	0.23	-31.5843	16.5764	0.84681	1.0:0.0:0.0:0.0	.	416;456;371;401;456;376;385;402;402;425	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	R	456;416;416;456;371;456;376;362;425;416;439;336;251	.	ENSP00000309992:Q416R	Q	+	2	0	ZMYND11	284415	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.265000	0.95647	2.371000	0.80710	0.533000	0.62120	CAG		0.502	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		57	322	0	0	0	1	0	57	322					G	294415	A	G	294415	3	3	79	1	0	0	0	0	1	0	0	0	17759	188	7	4	1413	4	ZMYND11	10	294415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		294415	135240332	10736	21053											
ZMYND11	10771	broad.mit.edu	37	chr10	295039	295039	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagtgggtaaataccaGtcttttttagacccttattt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:295039G>T	ENST00000397962.3	+	14	2114				ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381602.4_Missense_Mutation_p.S526I|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381584.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTAAATACCAGTCTTTTTTAG	0.393																																						ENST00000381602.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1576-1578)aGt>aTt		zinc finger, MYND-type containing 11							75	73	74					10																	295039		2203	4300	6503	SO:0001627	intron_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:295039G>T	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1686+11G>T	10.37:g.295039G>T						ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000397962.3_Intron|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000381584.1_Intron|ZMYND11_ENST00000602682.1_Intron	p.S526I	NM_212479.3	NP_997644.2	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	14	2125	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	0			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1577G>T	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062397	0.36373	.	.	ENSG00000015171	ENST00000381602;ENST00000509513	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36286	-0.9754	7	0.87932	D	0	.	2.7636	0.05314	0.3917:0.0818:0.1035:0.4231	.	566;512	Q2LD45;Q2LD46	.;.	I	526;566	.	ENSP00000371015:S526I	S	+	2	0	ZMYND11	285039	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.716000	0.01878	-3.340000	0.00183	-0.282000	0.10007	AGT		0.393	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		47	241	1	0	1.00776e-21	1	1.13667e-21	47	241					T	295039	G	T	295039	1	4	79	0	1	0	0	0	0	0	0	0	17759	1029	36	3		3	ZMYND11	10	295039	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	295039	135239708	10737	21054											
DIP2C	22982	broad.mit.edu	37	chr10	395299	395299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaccaaggccacgtggtcGccgtcctgaaggtggcccct	13	14	0	2	rs568456386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGTGGTCGCCGTCCTGAA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0					ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3079-3081)ggC>ggT		DIP2 disco-interacting protein 2 homolog C (Drosophila)							95	69	78					10																	395299		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395299G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3081C>T	10.37:g.395299G>A							p.G1027G	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3168	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1027					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3081C>T	CCDS7054.1																																																																																				0.647	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		15	229	0	0	0	1	0	15	229					A	395299	G	A	395299	2	1	79	1	0	0	0	0	0	0	0	1	4545	1074	38	1		1	DIP2C	10	395299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100260	395299	135139448	10738	21055											
DIP2C	22982	broad.mit.edu	37	chr10	395334	395334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctctccatcagcatcaCggcgatcttctcagctctct	6	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3046-3048)Gtg>Atg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							118	87	97					10																	395334		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395334C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3046G>A	10.37:g.395334C>T	ENSP00000280886:p.Val1016Met						p.V1016M	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3133	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1016					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3046G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248310	0.59103	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.37999	0.1024	L	0.27053	0.805	0.80722	D	1	P	0.38992	0.653	B	0.42112	0.376	T	0.11966	-1.0566	10	0.31617	T	0.26	-26.3503	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	M	1016	ENSP00000280886:V1016M	ENSP00000280886:V1016M	V	-	1	0	DIP2C	385334	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	4.918000	0.63376	2.409000	0.81822	0.563000	0.77884	GTG		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		43	263	0	0	0	1	0	43	263					T	395334	C	T	395334	3	4	79	1	0	0	0	0	1	0	0	0	4545	536	19	1	1676	1	DIP2C	10	395334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	395334	135139413	10739	21056											
DIP2C	22982	broad.mit.edu	37	chr10	410353	410353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggttctacggccagcGcagtggccacgatgtcgtcg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	813						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2437-2439)gCg>gTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							65	66	66					10																	410353		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410353G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2438C>T	10.37:g.410353G>A	ENSP00000280886:p.Ala813Val					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V	p.A813V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2525	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	813					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2438C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117828	0.37339	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.39056	2.98;1.1	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.39245	1.2	0.80722	D	1	D;B	0.67145	0.996;0.089	D;B	0.66196	0.942;0.037	T	0.36359	-0.9751	10	0.02654	T	1	-30.4331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	134;813	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	V	813;134	ENSP00000280886:A813V;ENSP00000443826:A134V	ENSP00000280886:A813V	A	-	2	0	DIP2C	400353	1.000000	0.71417	0.671000	0.29857	0.184000	0.23303	9.869000	0.99810	2.523000	0.85059	0.455000	0.32223	GCG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		78	371	0	0	0	1	0	78	371					A	410353	G	A	410353	3	1	79	1	0	0	0	0	1	0	0	0	4545	1087	38	1	2304	1	DIP2C	10	410353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15019	410353	135124394	10740	21057											
DIP2C	22982	broad.mit.edu	37	chr10	410407	410407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctgaccaccatgaggCcatccatcttgcccaccacg	8	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	795						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2383-2385)gGc>gAc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							84	82	83					10																	410407		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410407C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2384G>A	10.37:g.410407C>T	ENSP00000280886:p.Gly795Asp					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D	p.G795D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2471	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	795					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2384G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281958	0.59867	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.25749	3.43;1.78	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.83275	0.996;0.91	T	0.53063	-0.8491	10	0.02654	T	1	-25.6232	18.871	0.92315	0.0:1.0:0.0:0.0	.	116;795	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	D	795;116	ENSP00000280886:G795D;ENSP00000443826:G116D	ENSP00000280886:G795D	G	-	2	0	DIP2C	400407	1.000000	0.71417	0.978000	0.43139	0.678000	0.39670	7.818000	0.86416	2.458000	0.83093	0.305000	0.20034	GGC		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		102	418	0	0	0	1	0	102	418					T	410407	C	T	410407	3	4	79	1	0	0	0	0	1	0	0	0	4545	739	26	2	2358	2	DIP2C	10	410407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	410407	135124340	10741	21058											
DIP2C	22982	broad.mit.edu	37	chr10	410494	410494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgggtattcactgatcGgagccccggagcttgtcatg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	766						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2296-2298)cCg>cTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							52	50	51					10																	410494		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410494G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2297C>T	10.37:g.410494G>A	ENSP00000280886:p.Pro766Leu					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L	p.P766L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2384	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	766					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2297C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961449	0.34565	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.52295	1.62;0.67	5.31	5.31	0.75309	AMP-dependent synthetase/ligase (1);	0.055424	0.64402	D	0.000001	T	0.51856	0.1699	M	0.63843	1.955	0.80722	D	1	B;B	0.30973	0.302;0.034	B;B	0.34180	0.177;0.072	T	0.54132	-0.8339	10	0.54805	T	0.06	-22.1795	18.9703	0.92712	0.0:0.0:1.0:0.0	.	87;766	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	L	766;87	ENSP00000280886:P766L;ENSP00000443826:P87L	ENSP00000280886:P766L	P	-	2	0	DIP2C	400494	1.000000	0.71417	0.891000	0.34965	0.035000	0.12851	6.746000	0.74866	2.484000	0.83849	0.484000	0.47621	CCG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		53	256	0	0	0	1	0	53	256					A	410494	G	A	410494	3	1	79	1	0	0	0	0	1	0	0	0	4545	1116	39	1	2445	1	DIP2C	10	410494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	410494	135124253	10742	21059											
LARP4B	23185	broad.mit.edu	37	chr10	871234	871234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactaggaatcgcatgccGcagatgagatttactaggat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATCGCATGCCGCAGATGAGAT	0.378																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1255-1257)Cgg>Tgg		La ribonucleoprotein domain family, member 4B							88	94	92					10																	871234		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:871234G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1255C>T	10.37:g.871234G>A	ENSP00000326128:p.Arg419Trp						p.R419W	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1295	-			419					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1255C>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901055	0.72754	.	.	ENSG00000107929	ENST00000316157	T	0.38240	1.15	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56601	-0.7952	10	0.87932	D	0	-3.5475	14.4915	0.67654	0.0704:0.0:0.9296:0.0	.	419	Q92615	LAR4B_HUMAN	W	419	ENSP00000326128:R419W	ENSP00000326128:R419W	R	-	1	2	LARP4B	861234	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.379000	0.46325	0.655000	0.94253	CGG		0.378	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		16	488	0	0	0	1	0	16	488					A	871234	G	A	871234	3	1	79	1	0	0	0	0	1	0	0	0	8662	1086	38	1	985	1	LARP4B	10	871234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	460740	871234	134663513	10743	21060											
IDI1	3422	broad.mit.edu	37	chr10	1088604	1088604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcctagctcagctttcaGccgtctctgtgctgctcgcc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	112	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(505-507)Ctg>Ttg		isopentenyl-diphosphate delta isomerase 1							102	92	96					10																	1088604		2203	4300	6503	SO:0001819	synonymous_variant	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1088604G>A	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.505C>T	10.37:g.1088604G>A						IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	p.L169L	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	4	671	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	112			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Silent	SNP	ENST00000381344.3	37	c.505C>T	CCDS7056.1																																																																																				0.443	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		58	283	0	0	0	1	0	58	283					A	1088604	G	A	1088604	2	1	79	1	0	0	0	0	0	0	0	1	7529	962	34	2		2	IDI1	10	1088604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217370	1088604	134446143	10744	21061											
WDR37	22884	broad.mit.edu	37	chr10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggctttgctgtggagcataGagacagggaagtgcctagtc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q|WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(559-561)Gag>Cag		WD repeat domain 37							97	84	88					10																	1132252		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1132252G>C	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.559G>C	10.37:g.1132252G>C	ENSP00000350954:p.Glu187Gln					WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q|WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q	p.E187Q			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	7	703	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	187					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.559G>C	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850432	0.51270	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;D;T;D	0.81996	4.98;-1.56;4.98;-1.56	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047953	0.85682	N	0.000000	T	0.78874	0.4352	L	0.43598	1.365	0.80722	D	1	B;P;B	0.43477	0.361;0.808;0.098	B;B;B	0.39706	0.068;0.307;0.031	T	0.76953	-0.2768	10	0.26408	T	0.33	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	187;187;187	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Q	187;187;187;154	ENSP00000350954:E187Q;ENSP00000370730:E187Q;ENSP00000263150:E187Q;ENSP00000404346:E154Q	ENSP00000263150:E187Q	E	+	1	0	WDR37	1122252	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	9.145000	0.94634	2.637000	0.89404	0.655000	0.94253	GAG		0.483	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		32	177	0	0	0	1	0	32	177					C	1132252	G	C	1132252	3	2	79	1	0	0	0	0	1	0	0	0	17345	943	33	5	581	5	WDR37	10	1132252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43648	1132252	134402495	10745	21062											
WDR37	22884	broad.mit.edu	37	chr10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacctgtgggtttgacCggcaagccattggttggaac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(1432-1434)Cgg>Tgg		WD repeat domain 37							126	99	108					10																	1175231		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1175231C>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1432C>T	10.37:g.1175231C>T	ENSP00000350954:p.Arg478Trp					WDR37_ENST00000263150.4_Missense_Mutation_p.R478W	p.R478W			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	14	1576	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	478					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.1432C>T	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265075	0.80358	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01379	4.96;4.96	5.72	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.02294	-1.1181	10	0.87932	D	0	.	16.0685	0.80907	0.2373:0.7627:0.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	W	478	ENSP00000350954:R478W;ENSP00000263150:R478W	ENSP00000263150:R478W	R	+	1	2	WDR37	1165231	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.468000	0.53086	0.482000	0.27582	0.561000	0.74099	CGG		0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		44	244	0	0	0	1	0	44	244					T	1175231	C	T	1175231	3	4	79	1	0	0	0	0	1	0	0	0	17345	643	23	1	1482	1	WDR37	10	1175231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42979	1175231	134359516	10746	21063											
ADARB2	105	broad.mit.edu	37	chr10	1230812	1230812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacctaccctgccatacaGccgcgcccaccgtgcagaca	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381305.1_Silent_p.L80L|ADARB2_ENST00000381310.3_Silent_p.L187L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	678	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			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)		CTGCCATACAGCCGCGCCCAC	0.652																																						ENST00000381312.1																			0				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						c.(2032-2034)Ctg>Ttg		adenosine deaminase, RNA-specific, B2 (non-functional)							36	33	34					10																	1230812		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230812G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2032C>T	10.37:g.1230812G>A						ADARB2_ENST00000381310.3_Silent_p.L187L|ADARB2_ENST00000381305.1_Silent_p.L80L	p.L678L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2357	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	678			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.2032C>T	CCDS7058.1																																																																																				0.652	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		41	145	0	0	0	1	0	41	145					A	1230812	G	A	1230812	2	1	79	1	0	0	0	0	0	0	0	1	283	962	34	2		2	ADARB2	10	1230812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55581	1230812	134303935	10747	21064											
ADARB2	105	broad.mit.edu	37	chr10	1313190	1313190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgctttatggcgggcGtgcatgggcgtgaggtccgt	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	384					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)			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)		TATGGCGGGCGTGCATGGGCG	0.537																																						ENST00000381312.1																			0				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						c.(1150-1152)caC>caT		adenosine deaminase, RNA-specific, B2 (non-functional)							91	74	80					10																	1313190		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1313190G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1152C>T	10.37:g.1313190G>A							p.H384H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1477	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	384					B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1152C>T	CCDS7058.1																																																																																				0.537	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		20	95	0	0	0	1	0	20	95					A	1313190	G	A	1313190	2	1	79	1	0	0	0	0	0	0	0	1	283	1136	40	1		1	ADARB2	10	1313190	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82378	1313190	134221557	10748	21065											
ADARB2	105	broad.mit.edu	37	chr10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgcgttcttgggcGccaccgaccacgacagcttc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			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)		GTTCTTGGGCGCCACCGACCA	0.692																																						ENST00000381312.1																			0				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						c.(373-375)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							26	27	26					10																	1405926		2203	4298	6501	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405926G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.374C>T	10.37:g.1405926G>A	ENSP00000370713:p.Ala125Val						p.A125V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	699	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	125			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.374C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		60	150	0	0	0	1	0	60	150					A	1405926	G	A	1405926	3	1	79	1	0	0	0	0	1	0	0	0	283	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92736	1405926	134128821	10749	21066											
PITRM1	10531	broad.mit.edu	37	chr10	3189841	3189841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgatggatgcgtacaGgtgcccagagtcaggaattc	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000224949.4	-	19	2192	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L278L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	720					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2161-2163)Ctg>Ttg		pitrilysin metallopeptidase 1							89	98	95					10																	3189841		1970	4164	6134	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189841G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2158C>T	10.37:g.3189841G>A						PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000224949.4_Silent_p.L720L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.L721L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2199	-			622					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.2161C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	0.707	-0.788759	0.02884	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-0.0268	0.13929	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.28860	N	0.895545	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	0.1444	0.00087	0.2899:0.2552:0.2051:0.2499	.	.	.	.	L	53	.	.	P	-	2	0	PITRM1	3179841	0.855000	0.29742	0.305000	0.25099	0.020000	0.10135	-0.105000	0.10907	0.337000	0.23665	0.561000	0.74099	CCT		0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			60	652	0	0	0	1	0	60	652					A	3189841	G	A	3189841	2	1	79	1	0	0	0	0	0	0	0	1	11995	991	35	2		2	PITRM1	10	3189841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1783915	3189841	132344906	10750	21067											
PITRM1	10531	broad.mit.edu	37	chr10	3191914	3191914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccatgccattggtgggCtgggcgcagtactgaacagg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000224949.4	-	16	1804	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1_ENST00000464395.1_5'Flank|PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	590					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1768-1770)caG>caA		pitrilysin metallopeptidase 1							115	119	118					10																	3191914		1908	4128	6036	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3191914C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1770G>A	10.37:g.3191914C>T						PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1_ENST00000224949.4_Silent_p.Q590Q|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.Q590Q	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			16	1808	-			558					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.1770G>A	CCDS59208.1																																																																																				0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			116	567	0	0	0	1	0	116	567					T	3191914	C	T	3191914	2	4	79	1	0	0	0	0	0	0	0	1	11995	796	28	2		2	PITRM1	10	3191914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	3191914	132342833	10751	21068											
PITRM1	10531	broad.mit.edu	37	chr10	3205979	3205979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcccatgtaagctcCgggatgcacagtgggtcacc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000224949.4	-	7	763	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	243					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(727-729)ccG>ccA		pitrilysin metallopeptidase 1							127	127	127					10																	3205979		1962	4156	6118	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3205979C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.729G>A	10.37:g.3205979C>T						PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1_ENST00000224949.4_Silent_p.P243P|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.P243P	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			7	767	-			211					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.729G>A	CCDS59208.1																																																																																				0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			67	313	0	0	0	1	0	67	313					T	3205979	C	T	3205979	2	4	79	1	0	0	0	0	0	0	0	1	11995	639	23	1		1	PITRM1	10	3205979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14065	3205979	132328768	10752	21069											
PITRM1	10531	broad.mit.edu	37	chr10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctgttctgaaggtgCtgggagaatatcctctcatt	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000224949.4	-	7	691	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	219					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(655-657)caG>caT		pitrilysin metallopeptidase 1							124	119	121					10																	3206051		1924	4122	6046	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3206051C>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.657G>T	10.37:g.3206051C>A	ENSP00000224949:p.Gln219His					PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1_ENST00000224949.4_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.Q219H	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			7	695	-			187					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.657G>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386149	0.61956	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.33438	1.41;1.41;1.41	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B	0.28880	0.092;0.102;0.18;0.113;0.113;0.226	B;B;B;B;B;B	0.32211	0.017;0.043;0.142;0.067;0.067;0.106	T	0.06006	-1.0851	10	0.19590	T	0.45	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;187;219;219;219;212	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	219;212;219;187	ENSP00000224949:Q219H;ENSP00000370377:Q219H;ENSP00000401201:Q187H	ENSP00000224949:Q219H	Q	-	3	2	PITRM1	3196051	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.273000	0.43381	2.698000	0.92095	0.655000	0.94253	CAG		0.423	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			44	174	1	0	6.2361e-21	1	7.00342e-21	44	174					A	3206051	C	A	3206051	3	1	79	1	0	0	0	0	1	0	0	0	11995	796	28	3	2540	3	PITRM1	10	3206051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	3206051	132328696	10753	21070											
KLF6	1316	broad.mit.edu	37	chr10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtaaactttcctgcagCcgttaaagtggcaccggtgc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	206					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(616-618)gGc>gAc		Kruppel-like factor 6							67	57	60					10																	3823892		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823892C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.617G>A	10.37:g.3823892C>T	ENSP00000419923:p.Gly206Asp		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	877	-			206					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.617G>A	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497189	0.85069	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.76839	1.31;-1.05;-1.05	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.757	D	0.83488	0.0068	10	0.56958	D	0.05	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	206;206;206	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	D	206	ENSP00000419923:G206D;ENSP00000445301:G206D;ENSP00000419079:G206D	ENSP00000419079:G206D	G	-	2	0	KLF6	3813892	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.194000	0.70268	0.462000	0.41574	GGC		0.657	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			64	284	0	0	0	1	0	64	284					T	3823892	C	T	3823892	3	4	79	1	0	0	0	0	1	0	0	0	8380	739	26	2	246	2	KLF6	10	3823892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	617841	3823892	131710855	10754	21071											
AKR1C1	1645	broad.mit.edu	37	chr10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgccttggcaaaaaagCacaagcgaaccccagccctg	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	248					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GGCAAAAAAGCACAAGCGAAC	0.597																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(742-744)Cac>Tac		aldo-keto reductase family 1, member C1							67	73	71					10																	5014837		2203	4299	6502	SO:0001583	missense	1645							g.chr10:5014837C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.742C>T	10.37:g.5014837C>T	ENSP00000370254:p.His248Tyr					AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y|AKR1C1_ENST00000477661.1_3'UTR	p.H248Y	NM_001353.5	NP_001344.2					7	934	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.742C>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.885545	0.00532	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.50277	0.75;0.75	1.97	-0.0292	0.13919	NADP-dependent oxidoreductase domain (3);	0.510657	0.19036	N	0.124408	T	0.15739	0.0379	N	0.01686	-0.76	0.34677	D	0.724286	B	0.15473	0.013	B	0.26693	0.072	T	0.24835	-1.0149	10	0.07482	T	0.82	.	4.8837	0.13692	0.0:0.4389:0.0:0.5611	.	248	Q04828	AK1C1_HUMAN	Y	248	ENSP00000412248:H248Y;ENSP00000370254:H248Y	ENSP00000370254:H248Y	H	+	1	0	AKR1C1	5004837	0.976000	0.34144	0.060000	0.19600	0.317000	0.28152	0.882000	0.28186	-0.016000	0.14127	0.305000	0.20034	CAC		0.597	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		93	367	0	0	0	1	0	93	367					T	5014837	C	T	5014837	3	4	79	1	0	0	0	0	1	0	0	0	469	710	25	2	768	2	AKR1C1	10	5014837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190945	5014837	130519910	10755	21072											
AKR1C3	8644	broad.mit.edu	37	chr10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccatagatggcctagacaGaaatctccactattttaaca	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	301					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GGCCTAGACAGAAATCTCCAC	0.358																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(901-903)aGa>aAa		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						106	109	108					10																	5147842		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5147842G>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.902G>A	10.37:g.5147842G>A	ENSP00000369927:p.Arg301Lys					AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K	p.R301K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			8	1554	+			301					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.902G>A	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443841	0.12164	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.50548	0.74;0.74	2.63	1.65	0.23941	NADP-dependent oxidoreductase domain (2);	0.425790	0.21143	N	0.079453	T	0.19167	0.0460	N	0.02539	-0.55	0.29636	N	0.845116	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17979	0.02;0.014;0.008	T	0.18398	-1.0338	10	0.21014	T	0.42	.	7.7877	0.29101	0.1407:0.0:0.8593:0.0	.	182;301;301	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	K	182;301	ENSP00000401327:R182K;ENSP00000369927:R301K	ENSP00000369927:R301K	R	+	2	0	AKR1C3	5137842	1.000000	0.71417	0.016000	0.15963	0.046000	0.14306	1.844000	0.39269	0.391000	0.25143	0.491000	0.48974	AGA		0.358	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		38	152	0	0	0	1	0	38	152					A	5147842	G	A	5147842	3	1	79	1	0	0	0	0	1	0	0	0	471	942	33	2	932	2	AKR1C3	10	5147842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133005	5147842	130386905	10756	21073											
AKR1C4	1109	broad.mit.edu	37	chr10	5247767	5247767	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaatggaaaagtaatattCgacacagtggatctctctgc	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGTAATATTCGACACAGTGG	0.448																																						ENST00000380448.1																			1	Substitution - coding silent(1)	p.F139F(1)	large_intestine(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(415-417)ttC>ttT		aldo-keto reductase family 1, member C4	NADH(DB00157)						139	118	125					10																	5247767		2203	4300	6503	SO:0001819	synonymous_variant	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5247767C>T	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.417C>T	10.37:g.5247767C>T						AKR1C4_ENST00000263126.1_Silent_p.F139F	p.F139F			P17516	AK1C4_HUMAN			6	670	+			139					Q5T6A3|Q8WW84|Q9NS54	Silent	SNP	ENST00000380448.1	37	c.417C>T	CCDS7064.1																																																																																				0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		55	225	0	0	0	1	0	55	225					T	5247767	C	T	5247767	2	4	79	1	0	0	0	0	0	0	0	1	472	883	31	1		1	AKR1C4	10	5247767	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99925	5247767	130286980	10757	21074											
TUBAL3	79861	broad.mit.edu	37	chr10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgacttcgtggctgcgaTtgctgcattcacttccttgg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	339					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(1015-1017)Atc>Ctc		tubulin, alpha-like 3							98	87	90					10																	5435806		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435806T>G	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1015A>C	10.37:g.5435806T>G	ENSP00000369784:p.Ile339Leu					TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	p.I339L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	1052	-			339					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.1015A>C	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718580	0.48622	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.81078	-1.45;-1.45	4.41	4.41	0.53225	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.89846	0.6833	M	0.83603	2.65	0.45307	D	0.998303	P;P	0.46784	0.884;0.766	D;D	0.79784	0.993;0.987	D	0.91185	0.4979	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.0:0.0:1.0	.	299;339	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	339;299	ENSP00000369784:I339L;ENSP00000418799:I299L	ENSP00000369784:I339L	I	-	1	0	TUBAL3	5425806	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	7.851000	0.86920	1.949000	0.56562	0.528000	0.53228	ATC		0.557	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		44	199	0	0	0	1	0	44	199					G	5435806	T	G	5435806	3	3	79	1	0	0	0	0	1	0	0	0	16805	1493	52	4	329	4	TUBAL3	10	5435806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188039	5435806	130098941	10758	21075											
NET1	10276	broad.mit.edu	37	chr10	5498209	5498209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaatgggaggctcctttCgaggagctttcagtaactca	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	ENST00000355029.4	+	11	1499	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000484741.1_3'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	453	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGCTCCTTTCGAGGAGCTTT	0.448																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1357-1359)Cga>Tga		neuroepithelial cell transforming 1							44	44	44					10																	5498209		2203	4300	6503	SO:0001587	stop_gained	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498209C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1357C>T	10.37:g.5498209C>T	ENSP00000347134:p.Arg453*					NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000484741.1_3'UTR	p.R453*	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			11	1499	+			453			PH.		Q12773|Q96D82|Q99903|Q9UEN6	Nonsense_Mutation	SNP	ENST00000355029.4	37	c.1357C>T	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	37	6.539833	0.97650	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	.	.	.	5.64	4.67	0.58626	.	0.000000	0.34628	N	0.003815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.343	12.8877	0.58053	0.2509:0.7491:0.0:0.0	.	.	.	.	X	453;272;399	.	ENSP00000347134:R453X	R	+	1	2	NET1	5488209	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	2.854000	0.48325	2.652000	0.90054	0.563000	0.77884	CGA		0.448	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		33	168	0	0	0	1	0	33	168					T	5498209	C	T	5498209	4	4	79	1	0	0	0	0	0	1	0	0	10380	876	31	1	1496	1	NET1	10	5498209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62403	5498209	130036538	10759	21076											
C10orf18	54906	broad.mit.edu	37	chr10	5773107	5773107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagagcagacaacagctCggactctccaacaactctta	6	14	2	2	rs377180792		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5773107C>T	ENST00000328090.5	+	11	1770	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	382																	GACAACAGCTCGGACTCTCCA	0.428																																						ENST00000328090.5																			0											c.(1144-1146)tCg>tTg		family with sequence similarity 208, member B							53	54	54					10																	5773107		1911	4106	6017	SO:0001583	missense	54906							g.chr10:5773107C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1145C>T	10.37:g.5773107C>T	ENSP00000328426:p.Ser382Leu					RP11-336A10.2_ENST00000411512.2_RNA	p.S382L	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			11	1770	+			382					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1145C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436543	0.12104	.	.	ENSG00000108021	ENST00000328090	D	0.98684	-5.07	5.19	2.22	0.28083	.	0.784920	0.11062	N	0.603913	D	0.96327	0.8802	L	0.54323	1.7	0.09310	N	1	B	0.27068	0.167	B	0.17433	0.018	D	0.92218	0.5782	10	0.51188	T	0.08	.	5.3882	0.16229	0.1378:0.6157:0.0:0.2465	.	382	Q5VWN6	F208B_HUMAN	L	382	ENSP00000328426:S382L	ENSP00000328426:S382L	S	+	2	0	C10orf18	5813113	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.044000	0.13992	0.371000	0.24564	-1.131000	0.01979	TCG		0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		86	342	0	0	0	1	0	86	342					T	5773107	C	T	5773107	3	4	79	1	0	0	0	0	1	0	0	0	1601	893	31	1	1175	1	C10orf18	10	5773107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274898	5773107	129761640	10760	21077											
C10orf18	54906	broad.mit.edu	37	chr10	5777300	5777300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgcacagtttgtacagaAaaccaaattggataggaaaa	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5777300A>G	ENST00000328090.5	+	12	1863	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	413																	TTTGTACAGAAAACCAAATTG	0.408																																						ENST00000328090.5																			0											c.(1237-1239)aAa>aGa		family with sequence similarity 208, member B							150	146	147					10																	5777300		1829	4087	5916	SO:0001583	missense	54906							g.chr10:5777300A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1238A>G	10.37:g.5777300A>G	ENSP00000328426:p.Lys413Arg					RP11-336A10.2_ENST00000411512.2_RNA	p.K413R	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			12	1863	+			413					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1238A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729368	0.48833	.	.	ENSG00000108021	ENST00000328090	D	0.98437	-4.93	5.78	1.49	0.22878	.	0.284575	0.30593	N	0.009292	D	0.93825	0.8025	L	0.38175	1.15	0.26514	N	0.974557	P	0.42827	0.791	B	0.35240	0.198	D	0.88702	0.3216	10	0.39692	T	0.17	.	5.9868	0.19438	0.2203:0.5794:0.0:0.2003	.	413	Q5VWN6	F208B_HUMAN	R	413	ENSP00000328426:K413R	ENSP00000328426:K413R	K	+	2	0	C10orf18	5817306	0.983000	0.35010	0.986000	0.45419	0.992000	0.81027	0.510000	0.22723	-0.007000	0.14345	0.533000	0.62120	AAA		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		172	734	0	0	0	1	0	172	734					G	5777300	A	G	5777300	3	3	79	1	0	0	0	0	1	0	0	0	1601	14	1	4	1272	4	C10orf18	10	5777300	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4193	5777300	129757447	10761	21078											
C10orf18	54906	broad.mit.edu	37	chr10	5784280	5784280	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttggaaaaatgttctgcaGactctctgttggagactaac	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5784280G>A	ENST00000328090.5	+	14	3173	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	850																	ATGTTCTGCAGACTCTCTGTT	0.428																																						ENST00000328090.5																			0											c.(2548-2550)Gac>Aac		family with sequence similarity 208, member B							149	142	144					10																	5784280		1878	4105	5983	SO:0001583	missense	54906							g.chr10:5784280G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2548G>A	10.37:g.5784280G>A	ENSP00000328426:p.Asp850Asn					RP11-336A10.2_ENST00000411512.2_RNA	p.D850N	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3173	+			850					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2548G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438442	0.62955	.	.	ENSG00000108021	ENST00000328090	D	0.97480	-4.4	5.71	4.8	0.61643	.	0.386439	0.25227	N	0.032200	D	0.97760	0.9265	M	0.72118	2.19	0.30546	N	0.765971	D	0.76494	0.999	D	0.66847	0.947	D	0.95458	0.8540	10	0.72032	D	0.01	.	12.0944	0.53747	0.0797:0.0:0.9203:0.0	.	850	Q5VWN6	F208B_HUMAN	N	850	ENSP00000328426:D850N	ENSP00000328426:D850N	D	+	1	0	C10orf18	5824286	0.529000	0.26322	0.992000	0.48379	0.058000	0.15608	3.162000	0.50755	2.694000	0.91930	0.655000	0.94253	GAC		0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		120	526	0	0	0	1	0	120	526					A	5784280	G	A	5784280	3	1	79	1	0	0	0	0	1	0	0	0	1601	942	33	2	2590	2	C10orf18	10	5784280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6980	5784280	129750467	10762	21079											
C10orf18	54906	broad.mit.edu	37	chr10	5788293	5788293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtggcttcttacagtgGcactgttactcaagccacat	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788293G>A	ENST00000328090.5	+	15	3534	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	970																	TCTTACAGTGGCACTGTTACT	0.473																																						ENST00000328090.5																			0											c.(2908-2910)gGc>gAc		family with sequence similarity 208, member B							65	69	68					10																	5788293		1973	4157	6130	SO:0001583	missense	54906							g.chr10:5788293G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2909G>A	10.37:g.5788293G>A	ENSP00000328426:p.Gly970Asp						p.G970D	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	3534	+			970					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2909G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.380718	0.00205	.	.	ENSG00000108021	ENST00000328090	D	0.97161	-4.27	5.2	-1.54	0.08584	.	0.549868	0.16528	N	0.210512	D	0.83543	0.5277	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.78026	-0.2365	10	0.02654	T	1	.	0.8265	0.01121	0.4343:0.1622:0.2456:0.1579	.	970	Q5VWN6	F208B_HUMAN	D	970	ENSP00000328426:G970D	ENSP00000328426:G970D	G	+	2	0	C10orf18	5828299	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	0.480000	0.22244	0.056000	0.16144	-0.136000	0.14681	GGC		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		71	297	0	0	0	1	0	71	297					A	5788293	G	A	5788293	3	1	79	1	0	0	0	0	1	0	0	0	1601	1203	42	2	2955	2	C10orf18	10	5788293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4013	5788293	129746454	10763	21080											
C10orf18	54906	broad.mit.edu	37	chr10	5788692	5788692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccacctcggaaaatgcacGaacacaaggcctgagggaca	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788692G>A	ENST00000328090.5	+	15	3933	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1103																	GAAAATGCACGAACACAAGGC	0.463																																						ENST00000328090.5																			0											c.(3307-3309)cGa>cAa		family with sequence similarity 208, member B							129	123	125					10																	5788692		2008	4181	6189	SO:0001583	missense	54906							g.chr10:5788692G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3308G>A	10.37:g.5788692G>A	ENSP00000328426:p.Arg1103Gln						p.R1103Q	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	3933	+			1103					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3308G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.972136	0.00457	.	.	ENSG00000108021	ENST00000328090	T	0.15372	2.43	5.46	4.31	0.51392	.	0.000000	0.50627	N	0.000113	T	0.03095	0.0091	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.02654	T	1	.	5.7819	0.18312	0.7446:0.1686:0.0868:0.0	.	1103	Q5VWN6	F208B_HUMAN	Q	1103	ENSP00000328426:R1103Q	ENSP00000328426:R1103Q	R	+	2	0	C10orf18	5828698	0.127000	0.22367	0.001000	0.08648	0.000000	0.00434	2.604000	0.46274	0.357000	0.24183	-1.460000	0.01027	CGA		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		21	520	0	0	0	1	0	21	520					A	5788692	G	A	5788692	3	1	79	1	0	0	0	0	1	0	0	0	1601	1058	37	1	3354	1	C10orf18	10	5788692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399	5788692	129746055	10764	21081											
C10orf18	54906	broad.mit.edu	37	chr10	5788959	5788959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagactcagagtctcctcgGcctatcttcagaagggcttc	9	13	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788959G>A	ENST00000328090.5	+	15	4200	c.3575G>A	c.(3574-3576)gGc>gAc	p.G1192D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1192																	AGTCTCCTCGGCCTATCTTCA	0.463																																						ENST00000328090.5																			0											c.(3574-3576)gGc>gAc		family with sequence similarity 208, member B							86	89	88					10																	5788959		2005	4177	6182	SO:0001583	missense	54906							g.chr10:5788959G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3575G>A	10.37:g.5788959G>A	ENSP00000328426:p.Gly1192Asp						p.G1192D	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4200	+			1192					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3575G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631396	0.14322	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04502	3.61	5.67	4.75	0.60458	.	0.080279	0.53938	D	0.000052	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	B	0.23058	0.079	B	0.14023	0.01	T	0.35051	-0.9804	10	0.29301	T	0.29	.	12.5872	0.56424	0.0:0.1669:0.8331:0.0	.	1192	Q5VWN6	F208B_HUMAN	D	1192;387	ENSP00000328426:G1192D	ENSP00000328426:G1192D	G	+	2	0	C10orf18	5828965	0.008000	0.16893	0.014000	0.15608	0.001000	0.01503	1.665000	0.37449	1.364000	0.46038	0.591000	0.81541	GGC		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		90	357	0	0	0	1	0	90	357					A	5788959	G	A	5788959	3	1	79	1	0	0	0	0	1	0	0	0	1601	1203	42	2	3621	2	C10orf18	10	5788959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267	5788959	129745788	10765	21082											
GDI2	2665	broad.mit.edu	37	chr10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctacccgatcttttacgTagctggggtcacagatgagc	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	286					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(856-858)tAc>tGc		GDP dissociation inhibitor 2							98	87	91					10																	5810310		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5810310T>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.857A>G	10.37:g.5810310T>C	ENSP00000369538:p.Tyr286Cys					GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C	p.Y286C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			8	1147	-			286					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.857A>G	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705581	0.68615	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.993;0.981;0.997	D	0.97490	1.0053	10	0.87932	D	0	-20.6714	16.1557	0.81666	0.0:0.0:0.0:1.0	.	290;241;286	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	C	286;119;114;290;241	ENSP00000369538:Y286C;ENSP00000387565:Y114C;ENSP00000369475:Y290C;ENSP00000369528:Y241C	ENSP00000369475:Y290C	Y	-	2	0	GDI2	5850316	1.000000	0.71417	0.932000	0.37286	0.354000	0.29330	7.919000	0.87513	2.291000	0.77112	0.533000	0.62120	TAC		0.468	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		52	205	0	0	0	1	0	52	205					C	5810310	T	C	5810310	3	2	79	1	0	0	0	0	1	0	0	0	6350	1638	57	4	496	4	GDI2	10	5810310	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21351	5810310	129724437	10766	21083											
FBXO18	84893	broad.mit.edu	37	chr10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgactgccagcatttggCtcggagtcacttggctgtga	12	10	1	2	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000362091.4	+	2	168	c.53C>T	c.(52-54)gCt>gTt	p.A18V	FBXO18_ENST00000379999.5_Missense_Mutation_p.A69V|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	18					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(205-207)gCt>gTt		F-box protein, helicase, 18		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105	92	96		206,53	5.4	1	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/1095,18/1044	5945034	1,13005	2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5945034C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.53C>T	10.37:g.5945034C>T	ENSP00000355415:p.Ala18Val					FBXO18_ENST00000362091.4_Missense_Mutation_p.A18V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron	p.A69V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			3	310	+			18					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.206C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690765	0.48097	0.0	1.16E-4	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.313315	0.32372	N	0.006184	T	0.50103	0.1596	L	0.53249	1.67	0.80722	D	1	P;B	0.38827	0.649;0.376	B;B	0.33454	0.164;0.079	T	0.56505	-0.7968	9	0.59425	D	0.04	-9.9585	12.1561	0.54077	0.0:0.9177:0.0:0.0823	.	69;18	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	V	18;69	.	ENSP00000355415:A18V	A	+	2	0	FBXO18	5985040	0.064000	0.20934	0.997000	0.53966	0.328000	0.28507	1.720000	0.38022	2.536000	0.85505	0.655000	0.94253	GCT		0.473	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		47	209	0	0	0	1	0	47	209					T	5945034	C	T	5945034	3	4	79	1	0	0	0	0	1	0	0	0	5756	797	28	2	221	2	FBXO18	10	5945034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134724	5945034	129589713	10767	21084											
FBXO18	84893	broad.mit.edu	37	chr10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggacagtacgtctcGgctctctgcggagtctggtg	15	10	3	1	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000362091.4	+	3	630	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	FBXO18_ENST00000379999.5_Missense_Mutation_p.R223Q|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	172	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22567	0.0		0.0	False		,,,				2504	0.0					ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(667-669)cGg>cAg		F-box protein, helicase, 18		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	61	52	55		668,515	-5.5	0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	223/1095,172/1044	5948357	2,13004	2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948357G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.515G>A	10.37:g.5948357G>A	ENSP00000355415:p.Arg172Gln					FBXO18_ENST00000362091.4_Missense_Mutation_p.R172Q|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	p.R223Q	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	772	+			172					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.668G>A	CCDS7072.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.039	-1.292831	0.01375	4.54E-4	0.0	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.52	-5.47	0.02600	.	1.774100	0.02188	N	0.061094	T	0.12433	0.0302	N	0.01576	-0.805	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32613	-0.9900	9	0.08179	T	0.78	1.2348	9.6318	0.39785	0.669:0.0:0.2333:0.0977	.	223;172;98	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	172;223	.	ENSP00000355415:R172Q	R	+	2	0	FBXO18	5988363	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.453000	0.06778	-1.020000	0.03354	-0.136000	0.14681	CGG		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		22	187	0	0	0	1	0	22	187					A	5948357	G	A	5948357	3	1	79	1	0	0	0	0	1	0	0	0	5756	1116	39	1	687	1	FBXO18	10	5948357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3323	5948357	129586390	10768	21085											
PFKFB3	5209	broad.mit.edu	37	chr10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgctgactcctccaGgaaacactgaggcagacgtg	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000360521.2_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	518	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACTCCTCCAGGAAACACTGA	0.517																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1552-1554)aGg>aTg		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							154	154	154					10																	6274895		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6274895G>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1553G>T	10.37:g.6274895G>T	ENSP00000369100:p.Arg518Met					PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M	p.R518M	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			15	1883	+			518			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1553G>T	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.032|6.032	0.374222|0.374222	0.11409|0.11409	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379775;ENST00000441697	.|.	.|.	.|.	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B	.|0.28512	.|0.214;0.07;0.025	.|B;B;B	.|0.28784	.|0.094;0.058;0.058	T|T	0.19289|0.19289	-1.0310|-1.0310	5|8	.|0.72032	.|D	.|0.01	.|.	6.9535|6.9535	0.24558|0.24558	0.2159:0.0:0.7841:0.0|0.2159:0.0:0.7841:0.0	.|.	.|532;518;498	.|B7Z955;Q16875;Q5VX15	.|.;F263_HUMAN;.	H|M	140|498;186;532;518;29	.|.	.|ENSP00000369100:R518M	Q|R	+|+	3|2	2|0	PFKFB3|PFKFB3	6314901|6314901	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.074000|0.074000	0.17049|0.17049	1.467000|1.467000	0.35321|0.35321	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.517	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			25	714	1	0	3.01185e-09	1	3.16585e-09	25	714					T	6274895	G	T	6274895	3	4	79	1	0	0	0	0	1	0	0	0	11804	1000	35	3	1631	3	PFKFB3	10	6274895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326538	6274895	129259852	10769	21086											
PRKCQ	5588	broad.mit.edu	37	chr10	6483904	6483904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaccgtgggtaaaagGgattgtccatgcggatggag	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6483904G>A	ENST00000263125.5	-	16	1886	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	PRKCQ_ENST00000397176.2_Intron|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGGGTAAAAGGGATTGTCCAT	0.522																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1786-1788)cCc>cTc		protein kinase C, theta							107	92	97					10																	6483904		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6483904G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1787C>T	10.37:g.6483904G>A	ENSP00000263125:p.Pro596Leu					PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L|PRKCQ_ENST00000397176.2_Intron	p.P596L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			16	1886	-			596			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1787C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151850|3.151850	0.57151|0.57151	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000539722|ENST00000397178	T;T|.	0.61980|.	0.06;0.06|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.098076|0.098076	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.60779|0.60779	0.2295|0.2295	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.98;0.998;1.0|.	P;D;D|.	0.97110|.	0.824;0.969;1.0|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|7	0.33141|0.66056	T|D	0.24|0.02	.|.	19.3241|19.3241	0.94254|0.94254	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	471;368;596|.	B4DF52;Q5JUN8;Q04759|.	.;.;KPCT_HUMAN|.	L|S	596;471|369	ENSP00000263125:P596L;ENSP00000441752:P471L|.	ENSP00000263125:P596L|ENSP00000380363:P369S	P|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6523910|6523910	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.802000|0.802000	0.45316|0.45316	9.556000|9.556000	0.98127|0.98127	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	CCC|CCT		0.522	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		72	287	0	0	0	1	0	72	287					A	6483904	G	A	6483904	3	1	79	1	0	0	0	0	1	0	0	0	12562	1232	43	2	345	2	PRKCQ	10	6483904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209009	6483904	129050843	10770	21087											
SFMBT2	57713	broad.mit.edu	37	chr10	7230594	7230594	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaacacttacttggccttCagcgtctcttcctggaaatt	7	11	2	0	rs373706082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	600					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTGGCCTTCAGCGTCTCTT	0.443																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1798-1800)ctG>ctA		Scm-like with four mbt domains 2							102	99	100					10																	7230594		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7230594C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1800G>A	10.37:g.7230594C>T						SFMBT2_ENST00000397167.1_Silent_p.L600L	p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			16	1890	-			600					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1800G>A	CCDS31138.1																																																																																				0.443	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		50	220	0	0	0	1	0	50	220					T	7230594	C	T	7230594	2	4	79	1	0	0	0	0	0	0	0	1	14208	813	29	2		2	SFMBT2	10	7230594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746690	7230594	128304153	10771	21088											
SFMBT2	57713	broad.mit.edu	37	chr10	7244459	7244459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgtttctctggttgcacGactgcaatctttctcttctt	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V490V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTTGCACGACTGCAATCT	0.398																																						ENST00000361972.4																			1	Substitution - coding silent(1)	p.V490V(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1468-1470)gtC>gtT		Scm-like with four mbt domains 2							168	142	151					10																	7244459		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7244459G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1470C>T	10.37:g.7244459G>A						SFMBT2_ENST00000397167.1_Silent_p.V490V	p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			13	1560	-			490					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1470C>T	CCDS31138.1																																																																																				0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		66	312	0	0	0	1	0	66	312					A	7244459	G	A	7244459	2	1	79	1	0	0	0	0	0	0	0	1	14208	1045	37	1		1	SFMBT2	10	7244459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13865	7244459	128290288	10772	21089											
SFMBT2	57713	broad.mit.edu	37	chr10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagaatctgcatggcacaGcattgacagtttacttggtt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	348					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATGGCACAGCATTGACAGT	0.408																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1042-1044)Ctg>Atg		Scm-like with four mbt domains 2							87	82	84					10																	7285598		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7285598G>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1042C>A	10.37:g.7285598G>T	ENSP00000355109:p.Leu348Met					SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			9	1132	-			348					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1042C>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470197	0.43839	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.33216	1.42;1.42	5.54	2.55	0.30701	.	0.065062	0.64402	D	0.000007	T	0.50360	0.1611	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42749	-0.9433	10	0.51188	T	0.08	.	7.4248	0.27092	0.1495:0.0:0.7159:0.1346	.	348	Q5VUG0	SMBT2_HUMAN	M	348	ENSP00000355109:L348M;ENSP00000380353:L348M	ENSP00000355109:L348M	L	-	1	2	SFMBT2	7325604	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	2.717000	0.47227	0.323000	0.23307	0.655000	0.94253	CTG		0.408	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		57	266	1	0	6.3091e-27	1	7.28755e-27	57	266					T	7285598	G	T	7285598	3	4	79	1	0	0	0	0	1	0	0	0	14208	962	34	3	1694	3	SFMBT2	10	7285598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41139	7285598	128249149	10773	21090											
SFMBT2	57713	broad.mit.edu	37	chr10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctatagggcctttccctcGcagaggctgtttaaacagaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R178*(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368																																						ENST00000361972.4																			2	Substitution - Nonsense(2)	p.R178*(2)	skin(2)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(532-534)Cga>Tga		Scm-like with four mbt domains 2							63	63	63					10																	7326106		2202	4298	6500	SO:0001587	stop_gained	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7326106G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.532C>T	10.37:g.7326106G>A	ENSP00000355109:p.Arg178*					SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			6	622	-			178					A7MD09|Q9HCF5	Nonsense_Mutation	SNP	ENST00000361972.4	37	c.532C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353451	0.82243	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	.	0.063541	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000355109:R178X	R	-	1	2	SFMBT2	7366112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.897000	0.56273	2.195000	0.70347	0.431000	0.28591	CGA		0.368	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		51	410	0	0	0	1	0	51	410					A	7326106	G	A	7326106	4	1	79	1	0	0	0	0	0	1	0	0	14208	1095	38	1	2216	1	SFMBT2	10	7326106	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40508	7326106	128208641	10774	21091											
ITIH5	80760	broad.mit.edu	37	chr10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatggaatgccaggtaaTccttgtactccccgtcaatc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	921					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCAGGTAATCCTTGTACTC	0.512																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2761-2763)gAt>gCt		inter-alpha-trypsin inhibitor heavy chain family, member 5							191	162	172					10																	7605113		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605113T>G			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2762A>C	10.37:g.7605113T>G	ENSP00000256861:p.Asp921Ala					ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A	p.D921A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			14	2840	-			921					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2762A>C		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088393	0.55968	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03580	4.08;3.88;3.91	5.79	4.66	0.58398	.	0.198444	0.51477	D	0.000086	T	0.12689	0.0308	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.57324	0.662;0.818	T	0.00299	-1.1836	9	0.87932	D	0	-16.5541	11.7484	0.51835	0.0:0.0689:0.0:0.9311	.	921;707	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	A	921;707;703	ENSP00000256861:D921A;ENSP00000298441:D707A;ENSP00000387969:D703A	ENSP00000256861:D921A	D	-	2	0	ITIH5	7645119	1.000000	0.71417	0.053000	0.19242	0.140000	0.21249	5.835000	0.69368	1.023000	0.39654	0.528000	0.53228	GAT		0.512	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		141	699	0	0	0	1	0	141	699					G	7605113	T	G	7605113	3	3	79	1	0	0	0	0	1	0	0	0	7937	1435	50	4	112	4	ITIH5	10	7605113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	279007	7605113	127929634	10775	21092											
ITIH5	80760	broad.mit.edu	37	chr10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggggataatcgatgCggatgtcagagaggagcggg	20	5	1	1	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R487H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATAATCGATGCGGATGTCAGA	0.592																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.R487H(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1459-1461)cGc>cAc		inter-alpha-trypsin inhibitor heavy chain family, member 5		C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	71	69	69		1460,1460,818	2.7	0.5	10	dbSNP_132	69	0,8600		0,0,4300	yes	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	487/703,487/943,273/729	7618934	4,13002	2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618934C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1460G>A	10.37:g.7618934C>T	ENSP00000256861:p.Arg487His					ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H	p.R487H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1538	-			487					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1460G>A		.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	ITIH5	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC		0.592	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		28	342	0	0	0	1	0	28	342					T	7618934	C	T	7618934	3	4	79	1	0	0	0	0	1	0	0	0	7937	768	27	1	1511	1	ITIH5	10	7618934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13821	7618934	127915813	10776	21093											
ITIH5	80760	broad.mit.edu	37	chr10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaccctatcaccactcttCttttctctctctgtaatttc	1	14	5	0	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	116	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCACTCTTCTTTTCTCTCT	0.373																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(346-348)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain family, member 5							260	252	255					10																	7682770		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682770C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.348G>T	10.37:g.7682770C>A	ENSP00000256861:p.Lys116Asn					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N	p.K116N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			4	426	-			116			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.348G>T		.	.	.	.	.	.	.	.	.	.	C	15.82	2.945221	0.53079	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24538	1.85;1.85;1.85	5.71	3.86	0.44501	Vault protein inter-alpha-trypsin (2);	0.364388	0.33253	N	0.005109	T	0.40743	0.1129	.	.	.	0.42723	D	0.993683	P;D	0.60575	0.956;0.988	P;P	0.55785	0.637;0.784	T	0.31558	-0.9939	9	0.66056	D	0.02	-27.732	10.2142	0.43158	0.0:0.8446:0.0:0.1554	.	116;116	G5E9D8;Q86UX2	.;ITIH5_HUMAN	N	116	ENSP00000256861:K116N;ENSP00000380333:K116N;ENSP00000380332:K116N	ENSP00000256861:K116N	K	-	3	2	ITIH5	7722776	1.000000	0.71417	0.358000	0.25811	0.384000	0.30261	1.835000	0.39181	0.751000	0.32900	0.563000	0.77884	AAG		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		90	615	1	0	1.16068e-44	1	1.42057e-44	90	615					A	7682770	C	A	7682770	3	1	79	1	0	0	0	0	1	0	0	0	7937	912	32	3	2661	3	ITIH5	10	7682770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63836	7682770	127851977	10777	21094											
ITIH5	80760	broad.mit.edu	37	chr10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttctctctctgtaatttCgccctgatacaccttgtctc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(328-330)Gaa>Aaa		inter-alpha-trypsin inhibitor heavy chain family, member 5							226	219	221					10																	7682790		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682790C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.328G>A	10.37:g.7682790C>T	ENSP00000256861:p.Glu110Lys					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			4	406	-			110			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.328G>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313441	0.60414	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	4.81	0.61882	Vault protein inter-alpha-trypsin (2);	0.416738	0.28853	N	0.013929	T	0.17916	0.0430	.	.	.	0.42695	D	0.993593	P;P	0.46656	0.574;0.882	B;B	0.36289	0.036;0.221	T	0.02167	-1.1202	9	0.34782	T	0.22	-30.6759	12.0934	0.53739	0.0:0.9198:0.0:0.0802	.	110;110	G5E9D8;Q86UX2	.;ITIH5_HUMAN	K	110	ENSP00000256861:E110K;ENSP00000380333:E110K;ENSP00000380332:E110K	ENSP00000256861:E110K	E	-	1	0	ITIH5	7722796	0.998000	0.40836	0.999000	0.59377	0.777000	0.43975	3.418000	0.52721	2.678000	0.91216	0.563000	0.77884	GAA		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		89	621	0	0	0	1	0	89	621					T	7682790	C	T	7682790	3	4	79	1	0	0	0	0	1	0	0	0	7937	893	31	1	2681	1	ITIH5	10	7682790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	7682790	127851957	10778	21095											
ITIH5	80760	broad.mit.edu	37	chr10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcctggtcttcagaagCtctgttcagcattctgcagg	10	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	77	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGAAGCTCTGTTCAGC	0.458																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(229-231)Gct>Act		inter-alpha-trypsin inhibitor heavy chain family, member 5							160	137	144					10																	7683960		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7683960C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.229G>A	10.37:g.7683960C>T	ENSP00000256861:p.Ala77Thr					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T	p.A77T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			3	307	-			77			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.229G>A		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884008	0.51908	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24723	1.84;1.84;1.84	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.494258	0.24231	N	0.040348	T	0.42449	0.1203	.	.	.	0.30257	N	0.793545	P;P	0.49447	0.744;0.924	B;P	0.51945	0.281;0.685	T	0.34453	-0.9828	9	0.59425	D	0.04	-9.8768	19.8445	0.96703	0.0:1.0:0.0:0.0	.	77;77	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	77	ENSP00000256861:A77T;ENSP00000380333:A77T;ENSP00000380332:A77T	ENSP00000256861:A77T	A	-	1	0	ITIH5	7723966	0.929000	0.31497	0.911000	0.35937	0.038000	0.13279	3.230000	0.51286	2.695000	0.91970	0.462000	0.41574	GCT		0.458	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		83	367	0	0	0	1	0	83	367					T	7683960	C	T	7683960	3	4	79	1	0	0	0	0	1	0	0	0	7937	797	28	2	2784	2	ITIH5	10	7683960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1170	7683960	127850787	10779	21096											
ITIH2	3698	broad.mit.edu	37	chr10	7762890	7762890	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacacatttgaaggccatttCgatggtgttccggtcatttc	10	9	1	1	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process (GO:0030212)|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.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483																																						ENST00000358415.4																			2	Substitution - coding silent(2)	p.F234F(2)	large_intestine(2)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(700-702)ttC>ttT		inter-alpha-trypsin inhibitor heavy chain 2		C		3,4403	6.2+/-15.9	0,3,2200	162	136	145		702	0.4	1	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	ITIH2	NM_002216.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		234/947	7762890	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762890C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.702C>T	10.37:g.7762890C>T						ITIH2_ENST00000379587.4_Silent_p.F223F	p.F234F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			7	868	+			234					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.702C>T	CCDS31141.1																																																																																				0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		87	412	0	0	0	1	0	87	412					T	7762890	C	T	7762890	2	4	79	1	0	0	0	0	0	0	0	1	7934	883	31	1		1	ITIH2	10	7762890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78930	7762890	127771857	10780	21097											
ITIH2	3698	broad.mit.edu	37	chr10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaatacagaagcctgGctcctacagctgccgccaag	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000358415.4	+	15	1961	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	599					hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAAGCCTGGCTCCTACAGC	0.552																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1795-1797)Gct>Act		inter-alpha-trypsin inhibitor heavy chain 2							100	101	101					10																	7776892		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7776892G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1795G>A	10.37:g.7776892G>A	ENSP00000351190:p.Ala599Thr					ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	p.A599T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			15	1961	+			599					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1795G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123567	0.77436	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.35421	1.31;1.31	5.56	5.56	0.83823	.	0.994257	0.08171	N	0.987029	T	0.65739	0.2720	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58781	-0.7576	10	0.59425	D	0.04	-20.7694	19.541	0.95273	0.0:0.0:1.0:0.0	.	599	P19823	ITIH2_HUMAN	T	599;588	ENSP00000351190:A599T;ENSP00000368906:A588T	ENSP00000351190:A599T	A	+	1	0	ITIH2	7816898	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.411000	0.97342	2.609000	0.88269	0.543000	0.68304	GCT		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		33	671	0	0	0	1	0	33	671					A	7776892	G	A	7776892	3	1	79	1	0	0	0	0	1	0	0	0	7934	1203	42	2	1853	2	ITIH2	10	7776892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14002	7776892	127757855	10781	21098											
ITIH2	3698	broad.mit.edu	37	chr10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgttggtgccaagaaGcccaacaatggaaaactaag	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000358415.4	+	18	2413	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2245-2247)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain 2							78	79	79					10																	7786082		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786082G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2247G>T	10.37:g.7786082G>T	ENSP00000351190:p.Lys749Asn					ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	p.K749N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			18	2413	+			749					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2247G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381513	0.61845	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12984	2.63;2.63	5.43	3.58	0.41010	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.239649	0.41396	D	0.000883	T	0.29288	0.0729	M	0.76838	2.35	0.32661	N	0.518123	P	0.45986	0.87	P	0.55785	0.784	T	0.36016	-0.9765	10	0.36615	T	0.2	-16.9467	10.0692	0.42322	0.2721:0.0:0.7279:0.0	.	749	P19823	ITIH2_HUMAN	N	749;738	ENSP00000351190:K749N;ENSP00000368906:K738N	ENSP00000351190:K749N	K	+	3	2	ITIH2	7826088	0.993000	0.37304	0.883000	0.34634	0.939000	0.58152	1.666000	0.37460	0.662000	0.31006	0.655000	0.94253	AAG		0.383	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		42	158	1	0	1.49673e-21	1	1.68722e-21	42	158					T	7786082	G	T	7786082	3	4	79	1	0	0	0	0	1	0	0	0	7934	962	34	3	2317	3	ITIH2	10	7786082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9190	7786082	127748665	10782	21099											
ITIH2	3698	broad.mit.edu	37	chr10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagaagccagaggccaGcatggaagtgaaggggcaga	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000358415.4	+	20	2823	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I	ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	886					hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAGGCCAGCATGGAAGTG	0.498																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2656-2658)aGc>aTc		inter-alpha-trypsin inhibitor heavy chain 2							90	76	81					10																	7788631		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7788631G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2657G>T	10.37:g.7788631G>T	ENSP00000351190:p.Ser886Ile					ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	p.S886I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			20	2823	+			886					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2657G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.10288	2.89;2.89	5.27	2.32	0.28847	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.313882	0.37955	N	0.001869	T	0.08935	0.0221	L	0.54323	1.7	0.29012	N	0.886794	B	0.06786	0.001	B	0.14023	0.01	T	0.22347	-1.0219	10	0.39692	T	0.17	-10.9131	1.7834	0.03036	0.1497:0.2218:0.387:0.2414	.	886	P19823	ITIH2_HUMAN	I	886;875	ENSP00000351190:S886I;ENSP00000368906:S875I	ENSP00000351190:S886I	S	+	2	0	ITIH2	7828637	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.436000	0.34980	0.271000	0.22005	0.655000	0.94253	AGC		0.498	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		6	133	1	0	2.0095e-06	1	2.07161e-06	6	133					T	7788631	G	T	7788631	3	4	79	1	0	0	0	0	1	0	0	0	7934	971	34	3	2735	3	ITIH2	10	7788631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2549	7788631	127746116	10783	21100											
ATP5C1	509	broad.mit.edu	37	chr10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctgatatcaaggggcCtgaagacaagaagaaacacc	10	8	1	5	rs146307767	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0				Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(253-255)cCt>cTt		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							104	95	98					10																	7840983		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7840983C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.254C>T	10.37:g.7840983C>T	ENSP00000349142:p.Pro85Leu					ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L	p.P85L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			4	333	+			85					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.254C>T	CCDS31142.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.33	1.905580	0.33628	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	4.51	0.55191	ATPase, F1 complex, gamma subunit domain (1);	0.046924	0.85682	D	0.000000	T	0.45054	0.1323	N	0.16233	0.39	0.80722	D	1	B	0.24920	0.114	B	0.31495	0.131	T	0.35699	-0.9778	9	0.32370	T	0.25	-14.5997	16.1868	0.81960	0.1332:0.8667:0.0:0.0	.	85	P36542	ATPG_HUMAN	L	85;85;38	.	ENSP00000338568:P85L	P	+	2	0	ATP5C1	7880989	0.995000	0.38212	0.992000	0.48379	0.402000	0.30811	5.706000	0.68362	2.713000	0.92767	0.655000	0.94253	CCT		0.358	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		73	282	0	0	0	1	0	73	282					T	7840983	C	T	7840983	3	4	79	1	0	0	0	0	1	0	0	0	1150	681	24	2	268	2	ATP5C1	10	7840983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52352	7840983	127693764	10784	21101											
TAF3	83860	broad.mit.edu	37	chr10	8006790	8006790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcccaaagcttccacttcCgcgaacaatttcacaaagtc	4	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1315-1317)tcC>tcT		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							79	80	80					10																	8006790		1911	4128	6039	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006790C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1317C>T	10.37:g.8006790C>T							p.S439S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1523	+			439					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.1317C>T	CCDS41487.1																																																																																				0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		93	488	0	0	0	1	0	93	488					T	8006790	C	T	8006790	2	4	79	1	0	0	0	0	0	0	0	1	15577	639	23	1		1	TAF3	10	8006790	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165807	8006790	127527957	10785	21102											
TAF3	83860	broad.mit.edu	37	chr10	8051129	8051129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccggcccccgcgcccGcccccggccccatgctcgtc	10	26	0	0	rs376569744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8051129G>A	ENST00000344293.5	+	5	2610	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	802	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ccccgcgcccgcccccggccc	0.771																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2404-2406)Gcc>Acc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa		G	THR/ALA	2,1976		0,2,987	6	10	9		2404	4.6	0	10		9	0,4616		0,0,2308	no	missense	TAF3	NM_031923.2	58	0,2,3295	AA,AG,GG		0.0,0.1011,0.0303	possibly-damaging	802/930	8051129	2,6592	989	2308	3297	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8051129G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2404G>A	10.37:g.8051129G>A	ENSP00000340271:p.Ala802Thr						p.A802T	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			5	2610	+			802			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2404G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015318	0.35511	0.001011	0.0	ENSG00000165632	ENST00000344293	T	0.18502	2.21	5.53	4.62	0.57501	.	0.243575	0.27043	U	0.021214	T	0.16214	0.0390	M	0.65975	2.015	0.09310	N	1	P	0.41710	0.76	B	0.24974	0.057	T	0.17048	-1.0382	10	0.15499	T	0.54	.	17.4995	0.87727	0.0658:0.0:0.9342:0.0	.	802	Q5VWG9	TAF3_HUMAN	T	802	ENSP00000340271:A802T	ENSP00000340271:A802T	A	+	1	0	TAF3	8091135	0.629000	0.27146	0.001000	0.08648	0.000000	0.00434	1.804000	0.38873	0.712000	0.32039	-0.797000	0.03246	GCC		0.771	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		8	110	0	0	0	1	0	8	110					A	8051129	G	A	8051129	3	1	79	1	0	0	0	0	1	0	0	0	15577	1087	38	1	2422	1	TAF3	10	8051129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44339	8051129	127483618	10786	21103											
GATA3	2625	broad.mit.edu	37	chr10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcgtttaacccggccGccctctccagacacatgtcc	7	18	1	1	rs200935603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000346208.3	+	6	1638	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	GATA3_ENST00000379328.3_Missense_Mutation_p.A396T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	395					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TAACCCGGCCGCCCTCTCCAG	0.562			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						G|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.001		0.0	False		,,,				2504	0.0					ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1186-1188)Gcc>Acc		GATA binding protein 3							101	101	101					10																	8115837		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115837G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1183G>A	10.37:g.8115837G>A	ENSP00000341619:p.Ala395Thr					GATA3_ENST00000346208.3_Missense_Mutation_p.A395T|GATA3_ENST00000461472.1_3'UTR	p.A396T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1754	+			395					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1186G>A	CCDS7083.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.38	2.517688	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.55481	1.735	0.58432	D	0.999998	D;P	0.76494	0.999;0.588	D;B	0.75020	0.985;0.239	D	0.97524	1.0075	10	0.48119	T	0.1	-12.9454	18.8714	0.92317	0.0:0.0:1.0:0.0	.	395;396	P23771;P23771-2	GATA3_HUMAN;.	T	396;395	ENSP00000368632:A396T;ENSP00000341619:A395T	ENSP00000341619:A395T	A	+	1	0	GATA3	8155843	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.707000	0.68370	2.447000	0.82792	0.462000	0.41574	GCC		0.562	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		117	459	0	0	0	1	0	117	459					A	8115837	G	A	8115837	3	1	79	1	0	0	0	0	1	0	0	0	6283	1087	38	1	1204	1	GATA3	10	8115837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64708	8115837	127418910	10787	21104											
CELF2	10659	broad.mit.edu	37	chr10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctatcgtggtgaagtTtgctgacactcagaaggaca	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000379261.4	+	7	718	c.626T>C	c.(625-627)tTt>tCt	p.F209S	CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	209	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(625-627)tTt>tCt		CUGBP, Elav-like family member 2							46	50	48					10																	11312657		2065	4225	6290	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11312657T>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.626T>C	10.37:g.11312657T>C	ENSP00000368563:p.Phe209Ser		OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000315874.3_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S	p.F209S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			7	718	+			209			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.626T>C	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222595	0.79464	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.99;0.999;0.997;0.992	P;P;P;D;D;P	0.80764	0.729;0.799;0.66;0.994;0.945;0.799	T	0.06463	-1.0825	10	0.87932	D	0	-11.1953	15.9599	0.79923	0.0:0.0:0.0:1.0	.	193;209;204;216;204;209	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	S	209;209;216;216;185;185;185;185;185;185;98;15	ENSP00000368563:F209S;ENSP00000406451:F209S;ENSP00000389951:F216S;ENSP00000443926:F216S;ENSP00000382743:F185S;ENSP00000404834:F185S;ENSP00000315328:F185S;ENSP00000346426:F185S;ENSP00000388530:F185S;ENSP00000438884:F98S	ENSP00000315328:F185S	F	+	2	0	CELF2	11352663	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.988000	0.88194	2.153000	0.67306	0.533000	0.62120	TTT		0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				55	231	0	0	0	1	0	55	231					C	11312657	T	C	11312657	3	2	79	1	0	0	0	0	1	0	0	0	3225	1841	64	4	730	4	CELF2	10	11312657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3196820	11312657	124222090	10788	21105											
CELF2	10659	broad.mit.edu	37	chr10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaatggcacggctggcaCcatggacgccctcacccagg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000379261.4	+	11	1228	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	379	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1135-1137)aCc>aTc		CUGBP, Elav-like family member 2							114	109	110					10																	11363230		2076	4217	6293	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363230C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1136C>T	10.37:g.11363230C>T	ENSP00000368563:p.Thr379Ile					CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000315874.3_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I	p.T379I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1228	+			379			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1136C>T	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088708	0.76756	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	.	0.150107	0.64402	D	0.000016	T	0.65048	0.2654	L	0.46157	1.445	0.58432	D	0.999999	P;B;B;P;P	0.37330	0.574;0.167;0.165;0.584;0.59	B;B;B;B;B	0.43478	0.421;0.063;0.029;0.239;0.239	T	0.66244	-0.5972	10	0.56958	D	0.05	-8.2134	19.2874	0.94084	0.0:1.0:0.0:0.0	.	367;380;392;392;379	B4DDE7;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;CELF2_HUMAN	I	379;379;392;392;361;359;361;361;369;361;274;185	ENSP00000368563:T379I;ENSP00000406451:T379I;ENSP00000389951:T392I;ENSP00000443926:T392I;ENSP00000382743:T361I;ENSP00000404834:T359I;ENSP00000315328:T361I;ENSP00000346426:T361I;ENSP00000388530:T361I;ENSP00000438884:T274I	ENSP00000315328:T361I	T	+	2	0	CELF2	11403236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.789000	0.95967	0.558000	0.71614	ACC		0.577	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				78	425	0	0	0	1	0	78	425					T	11363230	C	T	11363230	3	4	79	1	0	0	0	0	1	0	0	0	3225	507	18	2	1286	2	CELF2	10	11363230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50573	11363230	124171517	10789	21106											
USP6NL	9712	broad.mit.edu	37	chr10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtagaaccatgaggtctcCtggaaggattcagttgagtc	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M|USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	668					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2002-2004)aGg>aTg		USP6 N-terminal like							25	26	26					10																	11504924		1906	4127	6033	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504924C>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2003G>T	10.37:g.11504924C>A	ENSP00000476462:p.Arg668Met					USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	p.R668M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	2397	-			668					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2003G>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575025	0.65878	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.59	6.17	6.17	0.99709	.	0.162898	0.42172	D	0.000760	T	0.14700	0.0355	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.818;0.912	T	0.09487	-1.0672	10	0.51188	T	0.08	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	668;685	Q92738;Q92738-2	US6NL_HUMAN;.	M	668;685;668	ENSP00000277575:R685M;ENSP00000368539:R668M	ENSP00000277575:R685M	R	-	2	0	USP6NL	11544930	0.038000	0.19896	0.042000	0.18584	0.008000	0.06430	2.740000	0.47418	2.941000	0.99782	0.655000	0.94253	AGG		0.532	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		26	96	1	0	7.88262e-20	1	8.81088e-20	26	96					A	11504924	C	A	11504924	3	1	79	1	0	0	0	0	1	0	0	0	17141	681	24	3	487	3	USP6NL	10	11504924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141694	11504924	124029823	10790	21107											
USP6NL	9712	broad.mit.edu	37	chr10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatcttcaaagaaaaaatCctttgccagggtctcctgaa	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N|USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	330					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGAAAAAATCCTTTGCCAGG	0.353																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(988-990)Gat>Aat		USP6 N-terminal like							44	42	43					10																	11523859		1793	4062	5855	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11523859C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.988G>A	10.37:g.11523859C>T	ENSP00000476462:p.Asp330Asn					USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	p.D330N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			14	1382	-			330					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.988G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104746	0.56291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.22336	1.96;1.96	5.55	3.65	0.41850	Rab-GAP/TBC domain (1);	0.215793	0.48286	N	0.000186	T	0.17238	0.0414	L	0.37800	1.135	0.58432	D	0.999999	P;P	0.37824	0.609;0.537	B;B	0.36186	0.17;0.219	T	0.02156	-1.1204	10	0.49607	T	0.09	.	11.8328	0.52305	0.0:0.8678:0.0:0.1322	.	330;347	Q92738;Q92738-2	US6NL_HUMAN;.	N	330;347;330	ENSP00000277575:D347N;ENSP00000368539:D330N	ENSP00000277575:D347N	D	-	1	0	USP6NL	11563865	0.995000	0.38212	0.992000	0.48379	0.988000	0.76386	1.455000	0.35190	0.654000	0.30846	0.591000	0.81541	GAT		0.353	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		15	100	0	0	0	1	0	15	100					T	11523859	C	T	11523859	3	4	79	1	0	0	0	0	1	0	0	0	17141	855	30	2	1506	2	USP6NL	10	11523859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18935	11523859	124010888	10791	21108											
ECHDC3	79746	broad.mit.edu	37	chr10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcatgatgcacatccGgaaccaccccgttcccgtca	9	16	2	1	rs144927894	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	136						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000379215.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						c.(406-408)cGg>cAg		enoyl CoA hydratase domain containing 3		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	75	54	61		407	1.2	1	10	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ECHDC3	NM_024693.4	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	136/304	11797423	4,13002	2203	4300	6503	SO:0001583	missense	79746					mitochondrion	catalytic activity	g.chr10:11797423G>A	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.407G>A	10.37:g.11797423G>A	ENSP00000368517:p.Arg136Gln					ECHDC3_ENST00000496136.1_3'UTR	p.R136Q	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN			4	618	+			136					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	c.407G>A	CCDS7084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.169	-0.170462	0.06461	9.08E-4	0.0	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	1.19	0.21007	Crotonase, core (1);	0.119864	0.64402	N	0.000013	T	0.34454	0.0898	N	0.05554	-0.025	0.45648	D	0.998573	B	0.12013	0.005	B	0.11329	0.006	T	0.07462	-1.0771	10	0.10902	T	0.67	.	9.3626	0.38206	0.8717:0.0:0.1283:0.0	.	136	Q96DC8	ECHD3_HUMAN	Q	136;189;63	ENSP00000368517:R136Q;ENSP00000405584:R189Q;ENSP00000398429:R63Q	ENSP00000368517:R136Q	R	+	2	0	ECHDC3	11837429	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	3.431000	0.52814	-0.001000	0.14495	-0.948000	0.02665	CGG		0.537	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		44	193	0	0	0	1	0	44	193					A	11797423	G	A	11797423	3	1	79	1	0	0	0	0	1	0	0	0	4911	1116	39	1	421	1	ECHDC3	10	11797423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273564	11797423	123737324	10792	21109											
ECHDC3	79746	broad.mit.edu	37	chr10	11805264	11805264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtgagcccatttctgcCcaggaggccctgctccacgg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	211						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637																																						ENST00000379215.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						c.(631-633)gcC>gcT		enoyl CoA hydratase domain containing 3							73	59	64					10																	11805264		2203	4300	6503	SO:0001819	synonymous_variant	79746					mitochondrion	catalytic activity	g.chr10:11805264C>T	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.633C>T	10.37:g.11805264C>T						ECHDC3_ENST00000496136.1_3'UTR	p.A211A	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN			5	844	+			211					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	c.633C>T	CCDS7084.1																																																																																				0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		35	150	0	0	0	1	0	35	150					T	11805264	C	T	11805264	2	4	79	1	0	0	0	0	0	0	0	1	4911	610	22	2		2	ECHDC3	10	11805264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7841	11805264	123729483	10793	21110											
UPF2	26019	broad.mit.edu	37	chr10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtacatgcttaagtccacCgcctttaatcattacctcct	5	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				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)			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)				TTAAGTCCACCGCCTTTAATC	0.333																																						ENST00000356352.2																			0				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						c.(3298-3300)Ggt>Agt		UPF2 regulator of nonsense transcripts homolog (yeast)							116	120	119					10																	11984744		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.chr10:11984744C>T	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.3298G>A	10.37:g.11984744C>T	ENSP00000348708:p.Gly1100Ser					UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S	p.G1100S			Q9HAU5	RENT2_HUMAN			17	3771	-		Renal(717;0.228)	1100			Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3298G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710862	0.68730	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.47262	-0.9131	10	0.09338	T	0.73	.	18.8593	0.92266	0.0:1.0:0.0:0.0	.	1100	Q9HAU5	RENT2_HUMAN	S	1100;1100;1100;5	ENSP00000348708:G1100S;ENSP00000350221:G1100S;ENSP00000380244:G1100S	ENSP00000348708:G1100S	G	-	1	0	UPF2	12024750	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.202000	0.77856	2.535000	0.85469	0.557000	0.71058	GGT		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			57	279	0	0	0	1	0	57	279					T	11984744	C	T	11984744	3	4	79	1	0	0	0	0	1	0	0	0	17058	652	23	1	540	1	UPF2	10	11984744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179480	11984744	123550003	10794	21111											
UPF2	26019	broad.mit.edu	37	chr10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggcactgctgatgcGcctctgattaaatttaggtt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				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)			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)				CTGCTGATGCGCCTCTGATTA	0.358																																						ENST00000356352.2																			0				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						c.(2602-2604)Cgc>Tgc		UPF2 regulator of nonsense transcripts homolog (yeast)							59	58	58					10																	11997479		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.chr10:11997479G>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.2602C>T	10.37:g.11997479G>A	ENSP00000348708:p.Arg868Cys					UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C	p.R868C			Q9HAU5	RENT2_HUMAN			13	3075	-		Renal(717;0.228)	868			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2602C>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960300	0.74016	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23950	1.88;1.88;1.88	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68546	-0.5380	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.7054:0.2946	.	868	Q9HAU5	RENT2_HUMAN	C	868	ENSP00000348708:R868C;ENSP00000350221:R868C;ENSP00000380244:R868C	ENSP00000348708:R868C	R	-	1	0	UPF2	12037485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.203000	0.72137	2.413000	0.81919	0.591000	0.81541	CGC		0.358	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			43	207	0	0	0	1	0	43	207					A	11997479	G	A	11997479	3	1	79	1	0	0	0	0	1	0	0	0	17058	1087	38	1	1252	1	UPF2	10	11997479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	11997479	123537268	10795	21112											
UPF2	26019	broad.mit.edu	37	chr10	12070779	12070779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattctggagctccctgtgGtcccttttcaggtgtttggt	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	370	MIF4G 1.				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)			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)				GCTCCCTGTGGTCCCTTTTCA	0.368																																						ENST00000356352.2																			0				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						c.(1108-1110)gaC>gaT		UPF2 regulator of nonsense transcripts homolog (yeast)							71	75	74					10																	12070779		2201	4298	6499	SO:0001819	synonymous_variant	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.chr10:12070779G>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.1110C>T	10.37:g.12070779G>A						UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D	p.D370D			Q9HAU5	RENT2_HUMAN			2	1583	-		Renal(717;0.228)	370			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.1110C>T	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			90	344	0	0	0	1	0	90	344					A	12070779	G	A	12070779	2	1	79	1	0	0	0	0	0	0	0	1	17058	1252	44	2		2	UPF2	10	12070779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73300	12070779	123463968	10796	21113											
SEC61A2	55176	broad.mit.edu	37	chr10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatttccctctttattGccaccaacatctgtgagacc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000298428.9	+	7	639	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	184					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(484-486)Gcc>Acc		Sec61 alpha 2 subunit (S. cerevisiae)							279	245	257					10																	12197864		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197864G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.550G>A	10.37:g.12197864G>A	ENSP00000298428:p.Ala184Thr					SEC61A2_ENST00000298428.9_Missense_Mutation_p.A184T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T	p.A162T	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			6	631	+		Renal(717;0.228)	184					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.484G>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493699|5.493699	0.96339|0.96339	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;P;D|.	0.64830|.	0.994;0.936;0.981|.	D;D;D|.	0.67382|.	0.909;0.921;0.951|.	D|D	0.87420|0.87420	0.2381|0.2381	9|5	0.41790|.	T|.	0.15|.	-12.905|-12.905	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;184;184|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	T|Y	162;184;184;184|65	.|.	ENSP00000298428:A184T|.	A|C	+|+	1|2	0|0	SEC61A2|SEC61A2	12237870|12237870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.498	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		208	910	0	0	0	1	0	208	910					A	12197864	G	A	12197864	3	1	79	1	0	0	0	0	1	0	0	0	14051	1319	46	2	576	2	SEC61A2	10	12197864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127085	12197864	123336883	10797	21114											
SEC61A2	55176	broad.mit.edu	37	chr10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtaatgaggggccaccgaGatacctctatggttcatgag	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000298428.9	+	11	1305	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	406					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1150-1152)Gat>Aat		Sec61 alpha 2 subunit (S. cerevisiae)							242	225	231					10																	12204260		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12204260G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1216G>A	10.37:g.12204260G>A	ENSP00000298428:p.Asp406Asn					SEC61A2_ENST00000298428.9_Missense_Mutation_p.D406N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N	p.D384N	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			10	1297	+		Renal(717;0.228)	406					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.1150G>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462134|3.462134	0.63513|0.63513	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560|ENST00000419021	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.24920|.	0.0;0.114;0.004|.	B;B;B|.	0.33620|.	0.036;0.167;0.074|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|6	0.51188|0.66056	T|D	0.08|0.02	-9.5732|-9.5732	19.1612|19.1612	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;406;406|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	N|K	384;406;406;340;154|157	.|.	ENSP00000298428:D406N|ENSP00000402124:R157K	D|R	+|+	1|2	0|0	SEC61A2|SEC61A2	12244266|12244266	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.288000|0.288000	0.27193|0.27193	9.869000|9.869000	0.99810|0.99810	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.428	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		162	669	0	0	0	1	0	162	669					A	12204260	G	A	12204260	3	1	79	1	0	0	0	0	1	0	0	0	14051	942	33	2	1258	2	SEC61A2	10	12204260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6396	12204260	123330487	10798	21115											
CAMK1D	57118	broad.mit.edu	37	chr10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttttttttcaggattaaGcatgaaaatattgttgccct	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(229-231)aaG>aaT		calcium/calmodulin-dependent protein kinase ID							132	126	128					10																	12708741		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12708741G>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.231G>T	10.37:g.12708741G>T	ENSP00000368124:p.Lys77Asn					CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	p.K77N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	568	+			77			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.231G>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113066	0.37339	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38401	1.14;1.14	5.51	3.64	0.41730	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	0.29620	0.0739	N	0.11651	0.15	0.53688	D	0.99997	D;B	0.56035	0.974;0.002	P;B	0.58210	0.835;0.011	T	0.02144	-1.1206	10	0.39692	T	0.17	-21.3343	7.0761	0.25205	0.2351:0.0:0.7649:0.0	.	77;77	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	77	ENSP00000368124:K77N;ENSP00000368122:K77N	ENSP00000368122:K77N	K	+	3	2	CAMK1D	12748747	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.100000	0.41777	2.593000	0.87608	0.655000	0.94253	AAG		0.338	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		77	357	1	0	7.427e-35	1	8.84747e-35	77	357					T	12708741	G	T	12708741	3	4	79	1	0	0	0	0	1	0	0	0	2604	962	34	3	241	3	CAMK1D	10	12708741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	504481	12708741	122826006	10799	21116											
CAMK1D	57118	broad.mit.edu	37	chr10	12858268	12858268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagacttcattcggaaCctgatggagaaggacccgaa	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(772-774)aaC>aaT		calcium/calmodulin-dependent protein kinase ID							82	74	77					10																	12858268		2203	4300	6503	SO:0001819	synonymous_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12858268C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.774C>T	10.37:g.12858268C>T						CAMK1D_ENST00000378845.1_Silent_p.N258N	p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	8	1111	+			258			Protein kinase.		B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	c.774C>T	CCDS7091.1																																																																																				0.488	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		23	185	0	0	0	1	0	23	185					T	12858268	C	T	12858268	2	4	79	1	0	0	0	0	0	0	0	1	2604	506	18	2		2	CAMK1D	10	12858268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149527	12858268	122676479	10800	21117											
MCM10	55388	broad.mit.edu	37	chr10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgagcagcatgaataCcactggcatgatggtgtgaa	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000484800.2	+	18	2515	c.2412C>A	c.(2410-2412)taC>taA	p.Y804*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	804					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2407-2409)taC>taA		minichromosome maintenance complex component 10							130	111	117					10																	13246275		2203	4300	6503	SO:0001587	stop_gained	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13246275C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2412C>A	10.37:g.13246275C>A	ENSP00000418268:p.Tyr804*					MCM10_ENST00000484800.2_Nonsense_Mutation_p.Y804*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*	p.Y803*			Q7L590	MCM10_HUMAN			17	2484	+			804					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	c.2409C>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999927	0.93227	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.42	2.55	0.30701	.	0.488980	0.23155	N	0.051314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.5109	7.6026	0.28085	0.1349:0.7218:0.0:0.1433	.	.	.	.	X	803;804;804;803	.	ENSP00000354945:Y804X	Y	+	3	2	MCM10	13286281	0.985000	0.35326	0.937000	0.37676	0.037000	0.13140	0.472000	0.22116	0.661000	0.30985	-0.169000	0.13324	TAC		0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		65	231	1	0	1.20869e-33	1	1.43362e-33	65	231					A	13246275	C	A	13246275	4	1	79	1	0	0	0	0	0	1	0	0	9426	518	18	3	2478	3	MCM10	10	13246275	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388007	13246275	122288472	10801	21118											
UCMA	221044	broad.mit.edu	37	chr10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacggcctgtctccaagTcatctttgcagaggtagggg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	2					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(4-6)Act>Cct		upper zone of growth plate and cartilage matrix associated							68	54	59					10																	13276255		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13276255T>G	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.4A>C	10.37:g.13276255T>G	ENSP00000367952:p.Thr2Pro					UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			1	76	-			2						Missense_Mutation	SNP	ENST00000378681.3	37	c.4A>C	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966081	0.34659	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.08	1.47	0.22746	.	0.707604	0.14026	N	0.346452	T	0.28101	0.0693	L	0.36672	1.1	0.22280	N	0.999234	B	0.25105	0.118	B	0.26416	0.069	T	0.23691	-1.0181	9	0.46703	T	0.11	1.1185	2.6256	0.04928	0.2076:0.2732:0.0:0.5192	.	2	Q8WVF2	UCMA_HUMAN	P	2	.	ENSP00000367952:T2P	T	-	1	0	UCMA	13316261	0.998000	0.40836	0.984000	0.44739	0.555000	0.35460	0.630000	0.24553	0.008000	0.14787	0.459000	0.35465	ACT		0.602	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		20	135	0	0	0	1	0	20	135					G	13276255	T	G	13276255	3	3	79	1	0	0	0	0	1	0	0	0	16980	1667	58	4	432	4	UCMA	10	13276255	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29980	13276255	122258492	10802	21119											
PHYH	5264	broad.mit.edu	37	chr10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtggcaatcggcactggCgaaatggcaggaaattgcct	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000263038.4	-	8	905	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000396920.3_Missense_Mutation_p.A266T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	283					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(796-798)Gcc>Acc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						111	98	103					10																	13323092		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13323092C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.847G>A	10.37:g.13323092C>T	ENSP00000263038:p.Ala283Thr					PHYH_ENST00000263038.4_Missense_Mutation_p.A283T|PHYH_ENST00000396913.2_Missense_Mutation_p.A183T	p.A266T			O14832	PAHX_HUMAN			8	1200	-		Ovarian(717;0.0448)	283					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.796G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251918	0.59212	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90133	-2.62;-2.62;-2.62	5.47	4.57	0.56435	.	0.051774	0.85682	D	0.000000	D	0.94863	0.8340	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.859;0.935	D	0.94949	0.8098	10	0.54805	T	0.06	-13.5846	14.1998	0.65696	0.0:0.9281:0.0:0.0719	.	266;283	B1ALH6;O14832	.;PAHX_HUMAN	T	183;283;266	ENSP00000380121:A183T;ENSP00000263038:A283T;ENSP00000380126:A266T	ENSP00000263038:A283T	A	-	1	0	PHYH	13363098	1.000000	0.71417	0.011000	0.14972	0.115000	0.19883	4.724000	0.61972	1.331000	0.45412	-0.229000	0.12294	GCC		0.418	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			52	219	0	0	0	1	0	52	219					T	13323092	C	T	13323092	3	4	79	1	0	0	0	0	1	0	0	0	11906	768	27	1	177	1	PHYH	10	13323092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46837	13323092	122211655	10803	21120											
PHYH	5264	broad.mit.edu	37	chr10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagggggtgacgggacGtcttcttgcctgaaaagaaa	16	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000263038.4	-	6	564	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PHYH_ENST00000396913.2_Missense_Mutation_p.T69M|PHYH_ENST00000396920.3_Missense_Mutation_p.T152M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	169					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(454-456)aCg>aTg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						73	74	74					10																	13330532		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330532G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.506C>T	10.37:g.13330532G>A	ENSP00000263038:p.Thr169Met					PHYH_ENST00000263038.4_Missense_Mutation_p.T169M|PHYH_ENST00000396913.2_Missense_Mutation_p.T69M	p.T152M			O14832	PAHX_HUMAN			6	859	-		Ovarian(717;0.0448)	169					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.455C>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176313	0.78564	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.8	4.89	0.63831	.	0.046113	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.96017	0.9006	10	0.87932	D	0	-23.7368	11.1462	0.48432	0.0:0.254:0.6126:0.1333	.	152;169	B1ALH6;O14832	.;PAHX_HUMAN	M	69;169;152;69;171	ENSP00000380121:T69M;ENSP00000263038:T169M;ENSP00000380126:T152M;ENSP00000412525:T69M;ENSP00000420117:T171M	ENSP00000263038:T169M	T	-	2	0	PHYH	13370538	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.212000	0.65225	1.444000	0.47605	0.655000	0.94253	ACG		0.542	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			14	366	0	0	0	1	0	14	366					A	13330532	G	A	13330532	3	1	79	1	0	0	0	0	1	0	0	0	11906	1145	40	1	526	1	PHYH	10	13330532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7440	13330532	122204215	10804	21121											
BEND7	222389	broad.mit.edu	37	chr10	13489312	13489312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctttcatcactgtccgcGatctctgctggttacaaaca	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000396900.2	-	8	1187	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000341083.3_Silent_p.I345I|BEND7_ENST00000396898.2_Silent_p.I409I			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(1033-1035)atC>atT		BEN domain containing 7							181	155	164					10																	13489312		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13489312G>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1188C>T	10.37:g.13489312G>A						BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000396900.2_Silent_p.I396I|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396898.2_Silent_p.I409I	p.I345I	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			8	1331	-			396			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1035C>T																																																																																					0.383	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		54	436	0	0	0	1	0	54	436					A	13489312	G	A	13489312	2	1	79	1	0	0	0	0	0	0	0	1	1404	1048	37	1		1	BEND7	10	13489312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158780	13489312	122045435	10805	21122											
BEND7	222389	broad.mit.edu	37	chr10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccagtgctgtcgttcaGcaatcttctcatccctgtaa	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000396900.2	-	3	195	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000341083.3_Missense_Mutation_p.L14M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	66						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(40-42)Ctg>Atg		BEN domain containing 7							139	141	140					10																	13542030		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13542030G>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.196C>A	10.37:g.13542030G>T	ENSP00000380108:p.Leu66Met					BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000396900.2_Missense_Mutation_p.L66M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M	p.L14M	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			3	336	-			66					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.40C>A		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602344	0.66445	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65916	-0.18;-0.15;-0.09;-0.08	5.63	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.63843	1.955	0.37854	D	0.929479	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73972	-0.3814	10	0.87932	D	0	-11.9329	10.2521	0.43375	0.3253:0.0:0.6747:0.0	.	66;14	E5RFC0;Q8N7W2-3	.;.	M	66;14;66;14	ENSP00000380108:L66M;ENSP00000345773:L14M;ENSP00000380107:L66M;ENSP00000367868:L14M	ENSP00000345773:L14M	L	-	1	2	BEND7	13582036	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.854000	0.48325	0.084000	0.17077	0.650000	0.86243	CTG		0.433	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		167	758	1	0	2.0813e-75	1	2.65401e-75	167	758					T	13542030	G	T	13542030	3	4	79	1	0	0	0	0	1	0	0	0	1404	962	34	3	1445	3	BEND7	10	13542030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52718	13542030	121992717	10806	21123											
PRPF18	8559	broad.mit.edu	37	chr10	13639487	13639487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatttcaagcgtagtgaGctcgccaaaaaagaagagga	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13639487G>A	ENST00000378572.3	+	2	256	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	32					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGCGTAGTGAGCTCGCCAAAA	0.279																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(94-96)gaG>gaA		pre-mRNA processing factor 18							91	92	92					10																	13639487		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13639487G>A	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.96G>A	10.37:g.13639487G>A							p.E32E	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			2	256	+			32					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.96G>A	CCDS7100.1																																																																																				0.279	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			7	212	0	0	0	1	0	7	212					A	13639487	G	A	13639487	2	1	79	1	0	0	0	0	0	0	0	1	12610	962	34	2		2	PRPF18	10	13639487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97457	13639487	121895260	10807	21124											
FRMD4A	55691	broad.mit.edu	37	chr10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgacgtggccttgcacatCtggggcatcctggtgaccct	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	978	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTTGCACATCTGGGGCATCC	0.667																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2932-2934)caG>caT		FERM domain containing 4A							39	36	37					10																	13698655		2202	4300	6502	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698655C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2934G>T	10.37:g.13698655C>A	ENSP00000350032:p.Gln978His					FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	p.Q978H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	3302	-			978			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2934G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673393	0.29693	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83755	-1.76;-1.76;-1.76	4.78	4.78	0.61160	.	0.112219	0.64402	D	0.000010	T	0.65428	0.2690	N	0.08118	0	0.28951	N	0.890379	P	0.39576	0.679	B	0.34722	0.188	T	0.66728	-0.5850	10	0.52906	T	0.07	-17.5835	11.3625	0.49651	0.0:0.9164:0.0:0.0836	.	978	Q9P2Q2	FRM4A_HUMAN	H	963;978;978	ENSP00000351438:Q963H;ENSP00000350032:Q978H;ENSP00000367764:Q978H	ENSP00000350032:Q978H	Q	-	3	2	FRMD4A	13738661	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.042000	0.49815	2.196000	0.70406	0.205000	0.17691	CAG		0.667	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		8	101	1	0	5.18039e-06	1	5.32547e-06	8	101					A	13698655	C	A	13698655	3	1	79	1	0	0	0	0	1	0	0	0	6078	912	32	3	197	3	FRMD4A	10	13698655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59168	13698655	121836092	10808	21125											
FRMD4A	55691	broad.mit.edu	37	chr10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggcgttcatctgcgccGggtagtagtgctccgagctc	14	11	2	0	rs201092986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	761					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		7375	0.0		0.0	False		,,,				2504	0.0					ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2281-2283)cCg>cTg		FERM domain containing 4A							49	41	44					10																	13699307		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699307G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2282C>T	10.37:g.13699307G>A	ENSP00000350032:p.Pro761Leu					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	p.P761L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2650	-			761					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2282C>T	CCDS7101.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.847717	0.71603	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85773	-2.01;-2.03;-2.03	5.11	5.11	0.69529	.	0.047559	0.85682	D	0.000000	T	0.82213	0.4988	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	B	0.39805	0.31	T	0.82301	-0.0525	10	0.31617	T	0.26	-25.4714	18.5337	0.91001	0.0:0.0:1.0:0.0	.	761	Q9P2Q2	FRM4A_HUMAN	L	746;761;761	ENSP00000351438:P746L;ENSP00000350032:P761L;ENSP00000367764:P761L	ENSP00000350032:P761L	P	-	2	0	FRMD4A	13739313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.687000	0.98667	2.353000	0.79882	0.436000	0.28706	CCG		0.692	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		20	92	0	0	0	1	0	20	92					A	13699307	G	A	13699307	3	1	79	1	0	0	0	0	1	0	0	0	6078	1116	39	1	849	1	FRMD4A	10	13699307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	13699307	121835440	10809	21126											
FRMD4A	55691	broad.mit.edu	37	chr10	13699468	13699468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccaggctggagctccgGtgcctaaagtgcagtgcgag	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000358621.4_Silent_p.H692H|FRMD4A_ENST00000378503.1_Silent_p.H707H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	707	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2119-2121)caC>caT		FERM domain containing 4A							22	23	23					10																	13699468		2189	4287	6476	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699468G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2121C>T	10.37:g.13699468G>A						FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	p.H707H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2489	-			707			Ser-rich.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.2121C>T	CCDS7101.1																																																																																				0.682	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		6	196	0	0	0	1	0	6	196					A	13699468	G	A	13699468	2	1	79	1	0	0	0	0	0	0	0	1	6078	1252	44	2		2	FRMD4A	10	13699468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	13699468	121835279	10810	21127											
FRMD4A	55691	broad.mit.edu	37	chr10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaacgtcctccttgtcActgaagccctggggaagcaa	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	282	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(844-846)gTg>gCg		FERM domain containing 4A							147	132	137					10																	13743470		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13743470A>G	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.845T>C	10.37:g.13743470A>G	ENSP00000350032:p.Val282Ala					FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A	p.V282A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			14	1213	-			282			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.845T>C	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268444	0.59540	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.75;-1.76	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.38531	1.155	0.80722	D	1	B;B;P	0.42123	0.106;0.234;0.771	B;B;P	0.44422	0.147;0.135;0.449	T	0.78753	-0.2081	10	0.19590	T	0.45	-18.9258	15.6255	0.76851	1.0:0.0:0.0:0.0	.	298;315;282	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	A	267;282;282;315;298	ENSP00000351438:V267A;ENSP00000350032:V282A;ENSP00000367764:V282A;ENSP00000264546:V315A;ENSP00000344237:V298A	ENSP00000264546:V315A	V	-	2	0	FRMD4A	13783476	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	GTG		0.512	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		79	391	0	0	0	1	0	79	391					G	13743470	A	G	13743470	3	3	79	1	0	0	0	0	1	0	0	0	6078	159	6	4	2318	4	FRMD4A	10	13743470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44002	13743470	121791277	10811	21128											
FAM107B	83641	broad.mit.edu	37	chr10	14816459	14816459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctggagctccttctgcGcttgggtgtcttggctgtct	12	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(202-204)agC>agT		family with sequence similarity 107, member B							130	119	123					10																	14816459		2203	4300	6503	SO:0001819	synonymous_variant	83641							g.chr10:14816459G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.204C>T	10.37:g.14816459G>A							p.S68S	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			1	437	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000181796.2	37	c.204C>T	CCDS7102.1																																																																																				0.582	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		171	670	0	0	0	1	0	171	670					A	14816459	G	A	14816459	2	1	79	1	0	0	0	0	0	0	0	1	5411	1078	38	1		1	FAM107B	10	14816459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072989	14816459	120718288	10812	21129											
SUV39H2	79723	broad.mit.edu	37	chr10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G													tgaagattaaaagaatgagtTttgtcatggaatatgttgga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000354919.6	+	3	826	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.F216V|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	276	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(646-648)Ttt>Gtt		suppressor of variegation 3-9 homolog 2 (Drosophila)							70	66	67					10																	14939493		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939493T>G	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.826T>G	10.37:g.14939493T>G	ENSP00000346997:p.Phe276Val					DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.F276V	p.F216V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			2	877	+			276			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.646T>G	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331871	0.81801	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.91237	-1.74;-1.74;-2.81	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97246	0.9894	10	0.87932	D	0	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	276	Q9H5I1	SUV92_HUMAN	V	276;216;216	ENSP00000346997:F276V;ENSP00000319208:F216V;ENSP00000392201:F216V	ENSP00000319208:F216V	F	+	1	0	SUV39H2	14979499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TTT		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		93	363	0	0	0	1	0	93	363					G	14939493	T	G	14939493	3	3	79	1	0	0	0	0	1	0	0	0	15465	1841	64	4	648	4	SUV39H2	10	14939493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123034	14939493	120595254	10813	21130	131	2									
SUV39H2	79723	broad.mit.edu	37	chr10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C													taaaagaatgagttttgtcaTggaatatgttggagaggtat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000354919.6	+	3	833	c.833T>C	c.(832-834)aTg>aCg	p.M278T	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.M218T|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	278	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(652-654)aTg>aCg		suppressor of variegation 3-9 homolog 2 (Drosophila)							66	63	64					10																	14939500		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939500T>C	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.833T>C	10.37:g.14939500T>C	ENSP00000346997:p.Met278Thr					DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.M278T	p.M218T	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			2	884	+			278			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.653T>C	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429912	0.43122	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;D	0.89552	-1.47;-1.47;-2.53	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	N	0.12527	0.23	0.80722	D	1	B	0.32939	0.391	B	0.40534	0.332	T	0.82337	-0.0507	10	0.35671	T	0.21	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	278	Q9H5I1	SUV92_HUMAN	T	278;218;218	ENSP00000346997:M278T;ENSP00000319208:M218T;ENSP00000392201:M218T	ENSP00000319208:M218T	M	+	2	0	SUV39H2	14979506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATG		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		74	374	0	0	0	1	0	74	374					C	14939500	T	C	14939500	3	2	79	1	0	0	0	0	1	0	0	0	15465	1464	51	4	655	4	SUV39H2	10	14939500	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	14939500	120595247	10814	21131	131	2									
RPP38	10557	broad.mit.edu	37	chr10	15145661	15145661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagcttgccattggCgttaacgaagttaccagagc	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.G116G|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	116					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(346-348)ggC>ggT		ribonuclease P/MRP 38kDa subunit							79	76	77					10																	15145661		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145661C>T	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.348C>T	10.37:g.15145661C>T						RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR	p.G116G	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	862	+			116					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.348C>T	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206024	0.09704	.	.	ENSG00000152465	ENST00000441445	.	.	.	5.67	-10.1	0.00402	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	5	0.34782	T	0.22	-24.5283	2.9592	0.05887	0.1391:0.1061:0.2789:0.4759	.	.	.	.	T	64	.	ENSP00000408127:A64T	A	-	1	0	NMT2	15185667	0.001000	0.12720	0.000000	0.03702	0.630000	0.37929	-1.467000	0.02352	-1.940000	0.01043	-0.932000	0.02703	GCC		0.483	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		61	225	0	0	0	1	0	61	225					T	15145661	C	T	15145661	2	4	79	1	0	0	0	0	0	0	0	1	13663	755	27	1		1	RPP38	10	15145661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206161	15145661	120389086	10815	21132											
NMT2	9397	broad.mit.edu	37	chr10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaagtgttgattaattctcGaactgatttgatatcttttg	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(1054-1056)Cga>Tga		N-myristoyltransferase 2							195	177	183					10																	15161458		2203	4300	6503	SO:0001587	stop_gained	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15161458G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1054C>T	10.37:g.15161458G>A	ENSP00000367407:p.Arg352*					NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*	p.R352*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			9	1134	-			352					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	c.1054C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	NMT2	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		69	314	0	0	0	1	0	69	314					A	15161458	G	A	15161458	4	1	79	1	0	0	0	0	0	1	0	0	10546	1066	37	1	458	1	NMT2	10	15161458	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	15161458	120373289	10816	21133											
NMT2	9397	broad.mit.edu	37	chr10	15174860	15174860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatggcacttatgaacccGaccagttttttatttgaaga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Silent_p.V37V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(673-675)gtC>gtT		N-myristoyltransferase 2							89	88	88					10																	15174860		2203	4300	6503	SO:0001819	synonymous_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15174860G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.675C>T	10.37:g.15174860G>A						NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Silent_p.V37V|NMT2_ENST00000535341.1_Silent_p.V212V	p.V225V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			6	755	-			225					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	c.675C>T	CCDS7109.1																																																																																				0.458	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		57	471	0	0	0	1	0	57	471					A	15174860	G	A	15174860	2	1	79	1	0	0	0	0	0	0	0	1	10546	1045	37	1		1	NMT2	10	15174860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13402	15174860	120359887	10817	21134											
ITGA8	8516	broad.mit.edu	37	chr10	15573078	15573078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctgggagttttgctgGctgatctgtataaggcatct	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15573078G>A	ENST00000378076.3	-	28	3306	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTTTTGCTGGCTGATCTGTA	0.313																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2953-2955)Cca>Tca		integrin, alpha 8							100	100	100					10																	15573078		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573078G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2953C>T	10.37:g.15573078G>A	ENSP00000367316:p.Pro985Ser						p.P985S	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			28	3306	-			985					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2953C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411702	0.83340	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69823	2.125	0.51767	D	0.99993	D;D	0.65815	0.995;0.992	P;P	0.58130	0.833;0.685	T	0.59679	-0.7409	10	0.28530	T	0.3	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	S	985;970	ENSP00000367316:P985S	ENSP00000367316:P985S	P	-	1	0	ITGA8	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA		0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		24	611	0	0	0	1	0	24	611					A	15573078	G	A	15573078	3	1	79	1	0	0	0	0	1	0	0	0	7912	1203	42	2	250	2	ITGA8	10	15573078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398218	15573078	119961669	10818	21135											
ITGA8	8516	broad.mit.edu	37	chr10	15697376	15697376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactgttaacatctgatacGacaacggtatatccaaaata	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	326					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(976-978)gtC>gtT		integrin, alpha 8							156	146	149					10																	15697376		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15697376G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.978C>T	10.37:g.15697376G>A							p.V326V	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			11	1331	-			326					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.978C>T	CCDS31155.1																																																																																				0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		71	357	0	0	0	1	0	71	357					A	15697376	G	A	15697376	2	1	79	1	0	0	0	0	0	0	0	1	7912	1045	37	1		1	ITGA8	10	15697376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124298	15697376	119837371	10819	21136											
ITGA8	8516	broad.mit.edu	37	chr10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacttttcctttgtgaGctttcactgttgctccaaac	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	142					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCTTTGTGAGCTTTCACTGT	0.428																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(424-426)gCt>gAt		integrin, alpha 8							227	193	205					10																	15729956		2202	4300	6502	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15729956G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.425C>A	10.37:g.15729956G>T	ENSP00000367316:p.Ala142Asp						p.A142D	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			3	778	-			142					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.425C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490544	0.84962	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.85629	-2.01	5.5	5.5	0.81552	.	0.047344	0.85682	D	0.000000	D	0.92080	0.7490	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.937	D	0.92576	0.6070	10	0.87932	D	0	.	19.3886	0.94570	0.0:0.0:1.0:0.0	.	142;142	F5H818;P53708	.;ITA8_HUMAN	D	142	ENSP00000367316:A142D	ENSP00000367316:A142D	A	-	2	0	ITGA8	15769962	1.000000	0.71417	0.838000	0.33150	0.712000	0.41017	9.476000	0.97823	2.583000	0.87209	0.491000	0.48974	GCT		0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		111	450	1	0	2.2287e-75	1	2.84182e-75	111	450					T	15729956	G	T	15729956	3	4	79	1	0	0	0	0	1	0	0	0	7912	971	34	3	2878	3	ITGA8	10	15729956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32580	15729956	119804791	10820	21137											
C1QL3	389941	broad.mit.edu	37	chr10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaacgtgctgtatttgTtgttgtttcctccatgggct	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	242	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(724-726)aAc>aGc		complement component 1, q subcomponent-like 3							151	142	145					10																	16556570		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16556570T>C		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.725A>G	10.37:g.16556570T>C	ENSP00000298943:p.Asn242Ser						p.N242S	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			2	1664	-			242			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.725A>G	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753605	0.69648	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.74737	-0.87	5.68	5.68	0.88126	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.50333	1.59	0.58432	D	0.999995	P	0.45569	0.861	P	0.49953	0.627	T	0.76307	-0.3007	10	0.38643	T	0.18	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	242	Q5VWW1	C1QL3_HUMAN	S	242;219	ENSP00000298943:N242S	ENSP00000298943:N242S	N	-	2	0	C1QL3	16596576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.533000	0.62120	AAC		0.388	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		25	498	0	0	0	1	0	25	498					C	16556570	T	C	16556570	3	2	79	1	0	0	0	0	1	0	0	0	1967	1725	60	4	46	4	C1QL3	10	16556570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	826614	16556570	118978177	10821	21138											
C1QL3	389941	broad.mit.edu	37	chr10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgtttcctccatggGctttcccgccatctaatttg	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	236	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(706-708)gCc>gAc		complement component 1, q subcomponent-like 3							153	142	146					10																	16556588		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16556588G>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.707C>A	10.37:g.16556588G>T	ENSP00000298943:p.Ala236Asp						p.A236D	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			2	1646	-			236			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.707C>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012318	0.54468	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.75589	-0.95	5.71	4.81	0.61882	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75858	-0.3169	10	0.15952	T	0.53	.	14.6519	0.68803	0.0698:0.0:0.9302:0.0	.	236	Q5VWW1	C1QL3_HUMAN	D	236;213	ENSP00000298943:A236D	ENSP00000298943:A236D	A	-	2	0	C1QL3	16596594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.428000	0.47296	0.655000	0.94253	GCC		0.398	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		85	394	1	0	8.14536e-31	1	9.57012e-31	85	394					T	16556588	G	T	16556588	3	4	79	1	0	0	0	0	1	0	0	0	1967	1203	42	3	64	3	C1QL3	10	16556588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	16556588	118978159	10822	21139											
C1QL3	389941	broad.mit.edu	37	chr10	16562739	16562739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccccggccgcgttcaggCcgggcgccccgggcgggccc	18	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	ENST00000298943.3	-	1	1265	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	109	Collagen-like.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGCGTTCAggccgggcgcccc	0.781																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(325-327)gGc>gAc		complement component 1, q subcomponent-like 3							19	19	19					10																	16562739		2198	4293	6491	SO:0001583	missense	389941					collagen		g.chr10:16562739C>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.326G>A	10.37:g.16562739C>T	ENSP00000298943:p.Gly109Asp						p.G109D	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1265	-			109			Collagen-like.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.326G>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.99353	-5.77	3.52	2.59	0.31030	.	0.211440	0.37906	N	0.001892	D	0.99354	0.9773	M	0.90595	3.13	0.51233	D	0.999918	D	0.76494	0.999	D	0.67103	0.949	D	0.99136	1.0854	10	0.59425	D	0.04	.	12.1876	0.54247	0.1719:0.8281:0.0:0.0	.	109	Q5VWW1	C1QL3_HUMAN	D	109;86	ENSP00000298943:G109D	ENSP00000298943:G109D	G	-	2	0	C1QL3	16602745	0.998000	0.40836	0.999000	0.59377	0.905000	0.53344	2.378000	0.44309	0.803000	0.34113	0.557000	0.71058	GGC		0.781	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		13	155	0	0	0	1	0	13	155					T	16562739	C	T	16562739	3	4	79	1	0	0	0	0	1	0	0	0	1967	739	26	2	449	2	C1QL3	10	16562739	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	16562739	118972008	10823	21140											
CUBN	8029	broad.mit.edu	37	chr10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgagttctcgatgccaAgtgaatgaaaaaagagggaa	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3440	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10318-10320)cTt>cGt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136	117	123					10																	16877056		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877056A>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10319T>G	10.37:g.16877056A>C	ENSP00000367064:p.Leu3440Arg						p.L3440R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10384	-			3440			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10319T>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305128	0.40795	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.24538	1.85	4.84	4.84	0.62591	CUB (5);	0.000000	0.44097	D	0.000491	T	0.36580	0.0972	M	0.80422	2.495	0.80722	D	1	B	0.25169	0.119	B	0.30855	0.121	T	0.36187	-0.9758	10	0.72032	D	0.01	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	3440	O60494	CUBN_HUMAN	R	3440;281	ENSP00000367064:L3440R	ENSP00000367064:L3440R	L	-	2	0	CUBN	16917062	1.000000	0.71417	0.140000	0.22221	0.373000	0.29922	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CTT		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		61	299	0	0	0	1	0	61	299					C	16877056	A	C	16877056	3	2	79	1	0	0	0	0	1	0	0	0	4062	72	3	4	568	4	CUBN	10	16877056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314317	16877056	118657691	10824	21141											
CUBN	8029	broad.mit.edu	37	chr10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcattgtcgtagttaTctggccatccagggcttctc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3413	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10237-10239)gAt>gCt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						165	142	150					10																	16877137		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877137T>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10238A>C	10.37:g.16877137T>G	ENSP00000367064:p.Asp3413Ala						p.D3413A	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10303	-			3413			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10238A>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282625	0.10458	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35048	1.33	4.84	-0.549	0.11829	CUB (5);	0.695101	0.12395	N	0.472617	T	0.21550	0.0519	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18999	-1.0319	10	0.56958	D	0.05	.	6.1158	0.20126	0.0:0.3293:0.1301:0.5406	.	3413	O60494	CUBN_HUMAN	A	3413;254	ENSP00000367064:D3413A	ENSP00000367064:D3413A	D	-	2	0	CUBN	16917143	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.440000	0.21592	-0.251000	0.09542	-0.361000	0.07541	GAT		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		76	341	0	0	0	1	0	76	341					G	16877137	T	G	16877137	3	3	79	1	0	0	0	0	1	0	0	0	4062	1435	50	4	649	4	CUBN	10	16877137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81	16877137	118657610	10825	21142											
CUBN	8029	broad.mit.edu	37	chr10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaactcattctagagtttCtgtttacaactccagatttg	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3382	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10144-10146)aGa>aTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						69	69	69					10																	16878269		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16878269C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10145G>T	10.37:g.16878269C>A	ENSP00000367064:p.Arg3382Ile						p.R3382I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			63	10210	-			3382			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10145G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419323	0.25552	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34472	1.36	4.89	-2.12	0.07165	CUB (4);	0.986847	0.08229	N	0.977876	T	0.19446	0.0467	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23261	-1.0193	10	0.29301	T	0.29	.	1.7924	0.03054	0.3558:0.1684:0.3245:0.1514	.	3382	O60494	CUBN_HUMAN	I	3382;223	ENSP00000367064:R3382I	ENSP00000367064:R3382I	R	-	2	0	CUBN	16918275	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-2.237000	0.01200	-0.517000	0.06461	-0.311000	0.09066	AGA		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		58	237	1	0	2.40265e-35	1	2.8676e-35	58	237					A	16878269	C	A	16878269	3	1	79	1	0	0	0	0	1	0	0	0	4062	913	32	3	746	3	CUBN	10	16878269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1132	16878269	118656478	10826	21143											
CUBN	8029	broad.mit.edu	37	chr10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcaatgtaggctttgaaGgaccacaaagtctccacatc	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2651	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7951-7953)cCt>cAt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95	89	91					10																	16946075		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16946075G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7952C>A	10.37:g.16946075G>T	ENSP00000367064:p.Pro2651His						p.P2651H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			51	8017	-			2651			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7952C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320521	0.23994	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.39	3.39	0.38822	CUB (5);	0.858271	0.09772	N	0.757850	T	0.14442	0.0349	N	0.08118	0	0.24998	N	0.991489	B	0.02656	0.0	B	0.08055	0.003	T	0.23511	-1.0186	10	0.38643	T	0.18	.	2.7814	0.05362	0.1021:0.1053:0.382:0.4106	.	2651	O60494	CUBN_HUMAN	H	2651	ENSP00000367064:P2651H	ENSP00000367064:P2651H	P	-	2	0	CUBN	16986081	0.968000	0.33430	0.001000	0.08648	0.177000	0.22998	2.237000	0.43061	0.693000	0.31634	0.591000	0.81541	CCT		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		72	292	1	0	6.86016e-32	1	8.08805e-32	72	292					T	16946075	G	T	16946075	3	4	79	1	0	0	0	0	1	0	0	0	4062	1000	35	3	2987	3	CUBN	10	16946075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67806	16946075	118588672	10827	21144											
CUBN	8029	broad.mit.edu	37	chr10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctacattacctgcatcttCactggaggtataggaagcag	9	10	2	0	rs199864467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2566					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7696-7698)Gaa>Aaa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						79	67	71					10																	16949516		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16949516C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7696G>A	10.37:g.16949516C>T	ENSP00000367064:p.Glu2566Lys						p.E2566K	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			49	7761	-			2566					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7696G>A	CCDS7113.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.467395	0.96257	.	.	ENSG00000107611	ENST00000377833	T	0.77098	-1.07	5.23	5.23	0.72850	CUB (2);	0.279331	0.25540	N	0.029974	D	0.83133	0.5188	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	P	0.59115	0.852	T	0.82910	-0.0223	10	0.46703	T	0.11	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2566	O60494	CUBN_HUMAN	K	2566	ENSP00000367064:E2566K	ENSP00000367064:E2566K	E	-	1	0	CUBN	16989522	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.287000	0.65645	2.603000	0.88011	0.650000	0.86243	GAA		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		51	238	0	0	0	1	0	51	238					T	16949516	C	T	16949516	3	4	79	1	0	0	0	0	1	0	0	0	4062	835	29	2	3251	2	CUBN	10	16949516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3441	16949516	118585231	10828	21145											
CUBN	8029	broad.mit.edu	37	chr10	17113893	17113893	+	Silent	SNP	A	A	G													attttaaacctgatccagacActattagtaatggatttaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	793	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2377-2379)agT>agC		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						57	57	57					10																	17113893		2203	4299	6502	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113893A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2379T>C	10.37:g.17113893A>G							p.S793S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			18	2444	-			793			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.2379T>C	CCDS7113.1																																																																																				0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		36	152	0	0	0	1	0	36	152					G	17113893	A	G	17113893	2	3	79	1	0	0	0	0	0	0	0	1	4062	156	6	4		4	CUBN	10	17113893	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164377	17113893	118420854	10829	21146	132	2									
CUBN	8029	broad.mit.edu	37	chr10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A													acctgatccagacactattaGtaatggatttaatgtgagag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	791	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2371-2373)aCt>aTt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						55	55	55					10																	17113900		2203	4299	6502	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113900G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2372C>T	10.37:g.17113900G>A	ENSP00000367064:p.Thr791Ile						p.T791I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			18	2437	-			791			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2372C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049988	0.55218	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.31	4.39	0.52855	CUB (5);	1.052280	0.07594	N	0.922464	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	P	0.48016	0.904	P	0.50136	0.632	T	0.19451	-1.0305	10	0.66056	D	0.02	.	15.1678	0.72842	0.0:0.3347:0.6653:0.0	.	791	O60494	CUBN_HUMAN	I	791	ENSP00000367064:T791I	ENSP00000367064:T791I	T	-	2	0	CUBN	17153906	1.000000	0.71417	0.571000	0.28486	0.745000	0.42441	5.152000	0.64882	1.224000	0.43551	0.454000	0.30748	ACT		0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	161	0	0	0	1	0	19	161					A	17113900	G	A	17113900	3	1	79	1	0	0	0	0	1	0	0	0	4062	1029	36	2	8699	2	CUBN	10	17113900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	17113900	118420847	10830	21147	132	2									
CUBN	8029	broad.mit.edu	37	chr10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctctctgtagccattCgaggcctatataattcaaac	5	12	3	0	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	43					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTAGCCATTCGAGGCCTATA	0.348													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		15410	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(127-129)cGa>cAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	GLN/ARG	9,4395	14.3+/-33.2	0,9,2193	55	57	56		128	5.2	0.9	10	dbSNP_134	56	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	43	0,9,6493	TT,TC,CC		0.0,0.2044,0.0692	probably-damaging	43/3624	17171244	9,12995	2202	4300	6502	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17171244C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.128G>A	10.37:g.17171244C>T	ENSP00000367064:p.Arg43Gln					CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			2	193	-			43					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.128G>A	CCDS7113.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	26.1	4.702199	0.88924	0.002044	0.0	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.91237	-1.26;-2.81	5.23	5.23	0.72850	.	0.000000	0.37261	N	0.002177	D	0.94026	0.8086	M	0.66939	2.045	0.43545	D	0.995849	D	0.89917	1.0	D	0.63957	0.92	D	0.92953	0.6382	10	0.36615	T	0.2	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	43	O60494	CUBN_HUMAN	Q	43	ENSP00000367064:R43Q;ENSP00000367054:R43Q	ENSP00000367054:R43Q	R	-	2	0	CUBN	17211250	0.999000	0.42202	0.871000	0.34182	0.916000	0.54674	5.259000	0.65485	2.598000	0.87819	0.591000	0.81541	CGA		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	277	0	0	0	1	0	11	277					T	17171244	C	T	17171244	3	4	79	1	0	0	0	0	1	0	0	0	4062	884	31	1	11007	1	CUBN	10	17171244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57344	17171244	118363503	10831	21148											
TRDMT1	1787	broad.mit.edu	37	chr10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcatatcaaaagataatCtgtcaaactcttcgagtgta	5	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	67	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAAAGATAATCTGTCAAACTC	0.378																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(199-201)aGa>aTa		tRNA aspartic acid methyltransferase 1							72	71	72					10																	17210891		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17210891C>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.200G>T	10.37:g.17210891C>A	ENSP00000367030:p.Arg67Ile					TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I	p.R67I	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			3	247	-			67					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.200G>T	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439433|2.439433	0.43326|0.43326	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86	5.95|5.95	1.06|1.06	0.20224|0.20224	.|.	.|0.530170	.|0.22507	.|N	.|0.059146	T|T	0.76751|0.76751	0.4031|0.4031	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B;B	.|0.43519	.|0.809;0.23;0.051	.|B;B;B	.|0.41332	.|0.354;0.06;0.033	T|T	0.68337|0.68337	-0.5435|-0.5435	5|10	.|0.62326	.|D	.|0.03	-8.0424|-8.0424	6.9518|6.9518	0.24550|0.24550	0.0:0.465:0.1221:0.4129|0.0:0.465:0.1221:0.4129	.|.	.|67;67;67	.|O14717-3;O14717-2;O14717	.|.;.;TRDMT_HUMAN	H|I	46|67;67;67;49	.|ENSP00000367030:R67I;ENSP00000409354:R67I;ENSP00000324328:R67I;ENSP00000431476:R49I	.|ENSP00000324328:R67I	Q|R	-|-	3|2	2|0	TRDMT1|TRDMT1	17250897|17250897	0.865000|0.865000	0.29922|0.29922	0.979000|0.979000	0.43373|0.43373	0.948000|0.948000	0.59901|0.59901	0.359000|0.359000	0.20233|0.20233	0.281000|0.281000	0.22233|0.22233	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		17	99	1	0	8.28177e-16	1	9.06825e-16	17	99					A	17210891	C	A	17210891	3	1	79	1	0	0	0	0	1	0	0	0	16520	913	32	3	1011	3	TRDMT1	10	17210891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39647	17210891	118323856	10832	21149											
VIM	7431	broad.mit.edu	37	chr10	17276772	17276772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccactgagtaccggagAcaggtgcagtccctcacctg	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000224237.5	+	5	1108	c.963A>G	c.(961-963)agA>agG	p.R321R	VIM_ENST00000544301.1_Silent_p.R321R|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	321	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(961-963)agA>agG		vimentin							85	77	80					10																	17276772		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276772A>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.963A>G	10.37:g.17276772A>G						RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Silent_p.R321R	p.R321R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			6	1376	+			321			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.963A>G	CCDS7120.1																																																																																				0.522	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		51	281	0	0	0	1	0	51	281					G	17276772	A	G	17276772	2	3	79	1	0	0	0	0	0	0	0	1	17220	272	10	4		4	VIM	10	17276772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65881	17276772	118257975	10833	21150											
VIM	7431	broad.mit.edu	37	chr10	17277377	17277377	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggaagctgctggaaggCgaggagagcaggtagggaac	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000224237.5	+	6	1363	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	VIM_ENST00000544301.1_Silent_p.G406G|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	406	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1216-1218)ggC>ggA		vimentin							83	79	80					10																	17277377		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277377C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1218C>A	10.37:g.17277377C>A						VIM_ENST00000224237.5_Silent_p.G406G	p.G406G	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1631	+			406			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1218C>A	CCDS7120.1																																																																																				0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		57	263	1	0	3.53049e-34	1	4.19639e-34	57	263					A	17277377	C	A	17277377	2	1	79	1	0	0	0	0	0	0	0	1	17220	755	27	3		3	VIM	10	17277377	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	17277377	118257370	10834	21151											
PTPLA	9200	broad.mit.edu	37	chr10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatgccatggttataagaaGaaaataatagtagtcaaaag	9	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	252					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(754-756)Ctt>Att		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							58	61	60					10																	17636234		2202	4295	6497	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636234G>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.754C>A	10.37:g.17636234G>T	ENSP00000355308:p.Leu252Ile						p.L252I	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			6	791	-			252					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.754C>A	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892142	0.91889	.	.	ENSG00000165996	ENST00000361271	T	0.36340	1.26	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72353	2.195	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.55667	-0.8105	10	0.59425	D	0.04	-21.2146	20.2406	0.98372	0.0:0.0:1.0:0.0	.	252	B0YJ81	HACD1_HUMAN	I	252	ENSP00000355308:L252I	ENSP00000355308:L252I	L	-	1	0	PTPLA	17676240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.846000	0.99502	2.857000	0.98124	0.650000	0.86243	CTT		0.289	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		34	233	1	0	6.05902e-23	1	6.8732e-23	34	233					T	17636234	G	T	17636234	3	4	79	1	0	0	0	0	1	0	0	0	12822	942	33	3	120	3	PTPLA	10	17636234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358857	17636234	117898513	10835	21152											
PTPLA	9200	broad.mit.edu	37	chr10	17636369	17636370	+	Frame_Shift_Ins	INS	-	-	A													ccaacaggatataagatgatINSaaaaaaattatatctggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636369_17636370insA	ENST00000361271.3	-	6	655_656	c.618_619insT	c.(616-621)tttatcfs	p.I207fs		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	207					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TATAAGATGATAAAAAAATTAT	0.312																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(616-621)tttcatfs		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A																																				SO:0001589	frameshift_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636369_17636370insA	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.619dupT	10.37:g.17636376_17636376dupA	ENSP00000355308:p.Ile207fs						p.H207fs	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			6	655_656	-			207					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Frame_Shift_Ins	INS	ENST00000361271.3	37	c.618_619insT	CCDS7121.1																																																																																				0.312	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		30	203						30	203	---	---	---	---	A	17636370	-	A	17636369	7	5	79	1	0	1	1	0	0	0	0	0	12822	1406	49	0	255	0	PTPLA	10	17636369	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	135	17636369	117898378	10836	21153											
STAM	8027	broad.mit.edu	37	chr10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtgaaaaattaaaggCtcttatggttgaatggacag	11	3	1	2	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	110	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(328-330)gCt>gTt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1		C	VAL/ALA	0,4406		0,0,2203	101	108	105		329	5.8	1	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAM	NM_003473.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	110/541	17730057	1,13005	2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17730057C>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.329C>T	10.37:g.17730057C>T	ENSP00000366746:p.Ala110Val					STAM_ENST00000540523.1_5'UTR	p.A110V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			5	544	+			110			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.329C>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474386	0.84640	0.0	1.16E-4	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	T	0.23147	1.92	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.102265	0.64402	D	0.000002	T	0.34978	0.0916	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	P	0.51297	0.665	T	0.00708	-1.1600	10	0.34782	T	0.22	-23.4298	20.1133	0.97917	0.0:1.0:0.0:0.0	.	110	Q92783	STAM1_HUMAN	V	110;60;13	ENSP00000366746:A110V	ENSP00000366721:A13V	A	+	2	0	STAM	17770063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.762000	0.94881	0.591000	0.81541	GCT		0.323	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		88	433	0	0	0	1	0	88	433					T	17730057	C	T	17730057	3	4	79	1	0	0	0	0	1	0	0	0	15300	797	28	2	347	2	STAM	10	17730057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93688	17730057	117804690	10837	21154											
STAM	8027	broad.mit.edu	37	chr10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagaatcagccatattatAtgcagtcatctggtgtttct	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	394					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1180-1182)Atg>Gtg		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							162	158	159					10																	17747711		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17747711A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1180A>G	10.37:g.17747711A>G	ENSP00000366746:p.Met394Val					STAM_ENST00000540523.1_Missense_Mutation_p.M283V	p.M394V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			12	1395	+			394					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1180A>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099491	0.08681	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38560	1.44;1.13	5.73	0.684	0.18003	.	0.190228	0.64402	N	0.000004	T	0.31136	0.0787	L	0.56769	1.78	0.43593	D	0.995943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08764	-1.0706	10	0.17832	T	0.49	-0.7655	5.9925	0.19474	0.664:0.1263:0.2097:0.0	.	283;394	B4DZT2;Q92783	.;STAM1_HUMAN	V	394;283	ENSP00000366746:M394V;ENSP00000438073:M283V	ENSP00000366746:M394V	M	+	1	0	STAM	17787717	0.988000	0.35896	0.958000	0.39756	0.898000	0.52572	2.453000	0.44970	-0.115000	0.11915	0.533000	0.62120	ATG		0.393	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		116	575	0	0	0	1	0	116	575					G	17747711	A	G	17747711	3	3	79	1	0	0	0	0	1	0	0	0	15300	449	16	4	1226	4	STAM	10	17747711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17654	17747711	117787036	10838	21155											
STAM	8027	broad.mit.edu	37	chr10	17750861	17750861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctacagtcttcccccGgagcagctgtcttctctcag	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	432					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1294-1296)ccG>ccA		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							89	87	88					10																	17750861		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17750861G>A	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1296G>A	10.37:g.17750861G>A						STAM_ENST00000540523.1_Silent_p.P321P	p.P432P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			13	1511	+			432					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.1296G>A	CCDS7122.1																																																																																				0.572	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		107	438	0	0	0	1	0	107	438					A	17750861	G	A	17750861	2	1	79	1	0	0	0	0	0	0	0	1	15300	1103	39	1		1	STAM	10	17750861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3150	17750861	117783886	10839	21156											
SLC39A12	221074	broad.mit.edu	37	chr10	18250690	18250690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttacctacacagcctaCtgagcctcaggcaggatgaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377369.2	+	3	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377371.3_Silent_p.L148L|SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	148					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(442-444)Ctg>Ttg		solute carrier family 39 (zinc transporter), member 12							82	86	85					10																	18250690		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250690C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.442C>T	10.37:g.18250690C>T						SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000377371.3_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L	p.L148L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			3	715	+			148					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.442C>T	CCDS44362.1																																																																																				0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		64	294	0	0	0	1	0	64	294					T	18250690	C	T	18250690	2	4	79	1	0	0	0	0	0	0	0	1	14665	564	20	2		2	SLC39A12	10	18250690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499829	18250690	117284057	10840	21157											
SLC39A12	221074	broad.mit.edu	37	chr10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaatagaaaagcccagaaGattcacaggcagctgaaatg	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377369.2	+	10	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	516					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1546-1548)Gat>Aat		solute carrier family 39 (zinc transporter), member 12							47	54	52					10																	18284597		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18284597G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1546G>A	10.37:g.18284597G>A	ENSP00000366586:p.Asp516Asn					SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N	p.D516N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			10	1819	+			516					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1546G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112274	0.77210	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.65	4.65	0.58169	.	1.707740	0.03073	N	0.157493	T	0.66973	0.2844	L	0.58969	1.84	0.51482	D	0.999928	D;B;D	0.61697	0.99;0.018;0.99	P;B;P	0.62014	0.897;0.1;0.897	T	0.50964	-0.8765	10	0.33141	T	0.24	-13.3985	14.7473	0.69499	0.0:0.0:1.0:0.0	.	515;516;479	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	516;479;515;382;436	ENSP00000366586:D516N;ENSP00000366591:D479N;ENSP00000366588:D515N;ENSP00000440445:D382N	ENSP00000366586:D516N	D	+	1	0	SLC39A12	18324603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	GAT		0.353	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		51	221	0	0	0	1	0	51	221					A	18284597	G	A	18284597	3	1	79	1	0	0	0	0	1	0	0	0	14665	942	33	2	1580	2	SLC39A12	10	18284597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33907	18284597	117250150	10841	21158											
CACNB2	783	broad.mit.edu	37	chr10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagatatgatgcaaAaagcgctgtttgatttttta	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000324631.7	+	9	964	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	CACNB2_ENST00000396576.2_Missense_Mutation_p.K247Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(739-741)Aaa>Caa		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						150	150	150					10																	18807857		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18807857A>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.904A>C	10.37:g.18807857A>C	ENSP00000320025:p.Lys302Gln					CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.K302Q|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q	p.K247Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			8	1240	+			302					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.739A>C	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694579	0.88830	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.998;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.996;0.999;0.995;0.999;0.991;0.999;0.998;0.991;0.998;0.999	D	0.94080	0.7343	10	0.87932	D	0	-22.4243	14.3496	0.66691	1.0:0.0:0.0:0.0	.	216;216;248;274;254;224;248;258;209;250;274;264;278;302	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	302;278;274;250;247;209;248;254	ENSP00000320025:K302Q;ENSP00000344474:K278Q;ENSP00000282343:K274Q;ENSP00000366548:K250Q;ENSP00000379821:K247Q;ENSP00000366536:K209Q;ENSP00000366546:K248Q;ENSP00000366532:K254Q	ENSP00000282343:K274Q	K	+	1	0	CACNB2	18847863	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.838000	0.92115	2.137000	0.66172	0.528000	0.53228	AAA		0.338	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		107	509	0	0	0	1	0	107	509					C	18807857	A	C	18807857	3	2	79	1	0	0	0	0	1	0	0	0	2560	15	1	4	1248	4	CACNB2	10	18807857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	523260	18807857	116726890	10842	21159											
CACNB2	783	broad.mit.edu	37	chr10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaaacctccttggcccCtattatagtatatgtaaaga	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000324631.7	+	11	1232	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1006-1008)cCt>cAt		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						101	110	107					10																	18823122		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18823122C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1172C>A	10.37:g.18823122C>A	ENSP00000320025:p.Pro391His					CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P391H|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H	p.P336H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			10	1508	+			391					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1007C>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972435	0.92919	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	391;367;363;339;336;298;337;343	ENSP00000320025:P391H;ENSP00000344474:P367H;ENSP00000282343:P363H;ENSP00000366548:P339H;ENSP00000379821:P336H;ENSP00000366536:P298H;ENSP00000366546:P337H;ENSP00000366532:P343H	ENSP00000282343:P363H	P	+	2	0	CACNB2	18863128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT		0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		106	581	1	0	1.47424e-42	1	1.79587e-42	106	581					A	18823122	C	A	18823122	3	1	79	1	0	0	0	0	1	0	0	0	2560	681	24	3	1524	3	CACNB2	10	18823122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15265	18823122	116711625	10843	21160											
CACNB2	783	broad.mit.edu	37	chr10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaagaaatcccagcaccGctcttcctcctcagccccac	5	19	3	1	rs184280124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000324631.7	+	14	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					ENST00000396576.2																			3	Substitution - Missense(3)	p.R507H(1)|p.R476H(1)|p.R477H(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1426-1428)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						91	85	87					10																	18828262		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828262G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1592G>A	10.37:g.18828262G>A	ENSP00000320025:p.Arg531His					CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R531H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H	p.R476H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	1928	+			531					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1427G>A	CCDS7125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	CACNB2	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC		0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		53	252	0	0	0	1	0	53	252					A	18828262	G	A	18828262	3	1	79	1	0	0	0	0	1	0	0	0	2560	1087	38	1	1956	1	CACNB2	10	18828262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5140	18828262	116706485	10844	21161											
CACNB2	783	broad.mit.edu	37	chr10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcataaatccaaggatcGctactgtgaaaaggatggag	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1732-1734)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69	64	66					10																	18828568		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828568G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1898G>A	10.37:g.18828568G>A	ENSP00000320025:p.Arg633His					CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H	p.R578H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2234	+			633					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1733G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC		0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		68	375	0	0	0	1	0	68	375					A	18828568	G	A	18828568	3	1	79	1	0	0	0	0	1	0	0	0	2560	1087	38	1	2262	1	CACNB2	10	18828568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306	18828568	116706179	10845	21162											
PLXDC2	84898	broad.mit.edu	37	chr10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcaaggcggtagacaCgaaccgagcaagcgtcggcc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(229-231)aCg>aTg		plexin domain containing 2							92	75	81					10																	20290821		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20290821C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.230C>T	10.37:g.20290821C>T	ENSP00000366460:p.Thr77Met					PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	p.T77M	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			2	1071	+			77					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.230C>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249061	0.59103	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.31769	1.79;1.48	5.9	5.9	0.94986	.	0.193759	0.56097	D	0.000039	T	0.42607	0.1210	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.53490	0.727;0.538	T	0.20174	-1.0283	10	0.87932	D	0	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	77;77;63	ENSP00000366460:T77M;ENSP00000366450:T77M	ENSP00000366450:T77M	T	+	2	0	PLXDC2	20330827	0.992000	0.36948	0.751000	0.31187	0.018000	0.09664	3.495000	0.53280	2.808000	0.96608	0.650000	0.86243	ACG		0.537	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		39	159	0	0	0	1	0	39	159					T	20290821	C	T	20290821	3	4	79	1	0	0	0	0	1	0	0	0	12160	536	19	1	236	1	PLXDC2	10	20290821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462253	20290821	115243926	10846	21163											
PLXDC2	84898	broad.mit.edu	37	chr10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acactggagaagtcgtacatCgaatgctaacagccacacag	9	11	0	1	rs367982414		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	191					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(571-573)Cga>Tga		plexin domain containing 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	156	148	151		571	4.9	1	10		151	0,8600		0,0,4300	no	stop-gained	PLXDC2	NM_032812.7		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		191/530	20432253	1,13005	2203	4300	6503	SO:0001587	stop_gained	84898					integral to membrane		g.chr10:20432253C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.571C>T	10.37:g.20432253C>T	ENSP00000366460:p.Arg191*					PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	p.R191*	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			5	1412	+			191					Q96E59|Q96PD9|Q96SU9	Nonsense_Mutation	SNP	ENST00000377252.4	37	c.571C>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	46	12.108986	0.99637	2.27E-4	0.0	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1463	0.81575	0.1346:0.8654:0.0:0.0	.	.	.	.	X	191;142;54;177	.	ENSP00000366446:R54X	R	+	1	2	PLXDC2	20472259	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.678000	0.61641	1.425000	0.47237	0.563000	0.77884	CGA		0.333	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		86	436	0	0	0	1	0	86	436					T	20432253	C	T	20432253	4	4	79	1	0	0	0	0	0	1	0	0	12160	876	31	1	589	1	PLXDC2	10	20432253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141432	20432253	115102494	10847	21164											
NEBL	10529	broad.mit.edu	37	chr10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgatattttttacatggtTtagcataggactgtcagtca	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTACATGGTTTAGCATAGGA	0.313																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(223-225)Aac>Cac		nebulette							98	100	100					10																	21178809		2202	4300	6502	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21178809T>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.223A>C	10.37:g.21178809T>G	ENSP00000366326:p.Asn75His					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron	p.N75H	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			3	619	-			75	N -> T (in Ref. 2; AAF24858).				B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.223A>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254167	0.80135	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	.	0.317378	0.35067	N	0.003462	T	0.40448	0.1117	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	T	0.08868	-1.0701	10	0.44086	T	0.13	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	75	O76041	NEBL_HUMAN	H	75;75;59	ENSP00000366326:N75H;ENSP00000366323:N75H;ENSP00000396512:N59H	ENSP00000366323:N75H	N	-	1	0	NEBL	21218815	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.617000	0.54181	2.371000	0.80710	0.533000	0.62120	AAC		0.313	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		58	273	0	0	0	1	0	58	273					G	21178809	T	G	21178809	3	3	79	1	0	0	0	0	1	0	0	0	10345	1841	64	4	2925	4	NEBL	10	21178809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	746556	21178809	114355938	10848	21165											
NEBL	10529	broad.mit.edu	37	chr10	21309118	21309118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgtggtgaaggactgCttcgggtagtgtctgtgggg	18	8	1	1	rs367567398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	104				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAGGACTGCTTCGGGTAGT	0.413																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(175-177)aaG>aaA		nebulette		C	,	0,4406		0,0,2203	97	92	94		177,177	4.3	1	10		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NEBL	NM_001173484.1,NM_213569.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	59/225,59/271	21309118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21309118C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.177G>A	10.37:g.21309118C>T						NEBL_ENST00000377159.4_Silent_p.K25K	p.K59K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			3	530	-			721	RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).				B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	37	c.177G>A	CCDS7133.1																																																																																				0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		80	291	0	0	0	1	0	80	291					T	21309118	C	T	21309118	2	4	79	1	0	0	0	0	0	0	0	1	10345	796	28	2		2	NEBL	10	21309118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130309	21309118	114225629	10849	21166											
MLLT10	8028	broad.mit.edu	37	chr10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaacatcatctgtagcaTcagctgcaggaagcataaca	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000307729.7	+	11	1694	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S506P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	506	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)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1516-1518)Tca>Cca		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							96	94	94					10																	21962743		2203	4300	6503	SO:0001583	missense	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.chr10:21962743T>C	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.1516T>C	10.37:g.21962743T>C	ENSP00000307411:p.Ser506Pro					MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P|MLLT10_ENST00000307729.7_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P	p.S506P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1864	+			506			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1516T>C	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495950	0.64186	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.33;2.44;2.45;2.44	5.62	5.62	0.85841	.	0.494770	0.22510	N	0.059111	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.65815	0.867;0.966;0.995;0.973	P;P;P;P	0.56278	0.623;0.598;0.795;0.674	T	0.01242	-1.1408	10	0.51188	T	0.08	.	15.823	0.78673	0.0:0.0:0.0:1.0	.	352;506;506;506	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	506;506;506;352;506;149;148	ENSP00000366272:S506P;ENSP00000401406:S506P;ENSP00000307411:S506P;ENSP00000366258:S506P	ENSP00000307411:S506P	S	+	1	0	MLLT10	22002749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.149000	0.67028	0.477000	0.44152	TCA		0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			93	284	0	0	0	1	0	93	284					C	21962743	T	C	21962743	3	2	79	1	0	0	0	0	1	0	0	0	9667	1435	50	4	1554	4	MLLT10	10	21962743	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	653625	21962743	113572004	10850	21167											
MLLT10	8028	broad.mit.edu	37	chr10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttactagaacagggtaCtcctagtgacagtaagtatt	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000307729.7	+	17	2385	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000377072.3_Missense_Mutation_p.T752I|MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	736	Transactivation domain; required for DOT1L-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)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2254-2256)aCt>aTt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							151	144	146					10																	22019972		2203	4300	6503	SO:0001583	missense	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.chr10:22019972C>T	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.2207C>T	10.37:g.22019972C>T	ENSP00000307411:p.Thr736Ile					MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I|MLLT10_ENST00000307729.7_Missense_Mutation_p.T736I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I	p.T752I	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			18	2603	+			752			Transactivation domain.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2255C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595286	0.86953	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.3	5.3	0.74995	.	0.150213	0.64402	D	0.000012	T	0.26011	0.0634	L	0.41236	1.265	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;D	0.83275	0.996;0.991;0.795;0.991	T	0.00899	-1.1522	10	0.30078	T	0.28	.	18.9445	0.92616	0.0:1.0:0.0:0.0	.	431;736;736;752	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	752;736;736;571;736	ENSP00000366272:T752I;ENSP00000401406:T736I;ENSP00000307411:T736I;ENSP00000366258:T736I	ENSP00000307411:T736I	T	+	2	0	MLLT10	22059978	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.020000	0.76419	2.466000	0.83321	0.561000	0.74099	ACT		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			102	579	0	0	0	1	0	102	579					T	22019972	C	T	22019972	3	4	79	1	0	0	0	0	1	0	0	0	9667	565	20	2	2321	2	MLLT10	10	22019972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57229	22019972	113514775	10851	21168											
MLLT10	8028	broad.mit.edu	37	chr10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagactcctgtcacaatgTcccagaaccctacccctctc	5	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000307729.7	+	20	2957	c.2779T>C	c.(2779-2781)Tcc>Ccc	p.S927P	MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S943P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	927					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)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2827-2829)Tcc>Ccc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							119	99	106					10																	22022979		2203	4300	6503	SO:0001583	missense	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.chr10:22022979T>C	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.2779T>C	10.37:g.22022979T>C	ENSP00000307411:p.Ser927Pro					MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P|MLLT10_ENST00000307729.7_Missense_Mutation_p.S927P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P	p.S943P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			21	3175	+			943					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2827T>C	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550030	0.27652	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16897	2.31;2.32;2.32;2.32	4.94	2.55	0.30701	.	0.530450	0.21640	N	0.071348	T	0.06735	0.0172	N	0.05124	-0.11	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.0;0.005	B;B;B;B	0.11329	0.006;0.003;0.0;0.003	T	0.26189	-1.0110	10	0.30078	T	0.28	.	4.0468	0.09776	0.1548:0.1592:0.0:0.6859	.	622;927;927;943	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	943;927;927;762;927	ENSP00000366272:S943P;ENSP00000401406:S927P;ENSP00000307411:S927P;ENSP00000366258:S927P	ENSP00000307411:S927P	S	+	1	0	MLLT10	22062985	0.997000	0.39634	0.938000	0.37757	0.950000	0.60333	0.429000	0.21412	0.685000	0.31468	0.455000	0.32223	TCC		0.458	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			61	261	0	0	0	1	0	61	261					C	22022979	T	C	22022979	3	2	79	1	0	0	0	0	1	0	0	0	9667	1667	58	4	2905	4	MLLT10	10	22022979	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3007	22022979	113511768	10852	21169											
DNAJC1	64215	broad.mit.edu	37	chr10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttttctcaggctctcctCgtcgctggactcgttttgtt	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	482					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1444-1446)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 1							103	100	101					10																	22048251		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048251C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1444G>A	10.37:g.22048251C>T	ENSP00000366179:p.Glu482Lys						p.E482K	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			11	1734	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	482					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1444G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035396	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.65178	-0.14	5.68	5.68	0.88126	.	0.580607	0.19233	N	0.119344	T	0.57475	0.2056	L	0.59436	1.845	0.80722	D	1	D;P	0.59357	0.985;0.824	B;B	0.43155	0.41;0.083	T	0.54125	-0.8340	10	0.15066	T	0.55	-5.0347	13.0501	0.58950	0.0:0.9265:0.0:0.0735	.	203;482	Q96NY3;Q96KC8	.;DNJC1_HUMAN	K	482	ENSP00000366179:E482K	ENSP00000366179:E482K	E	-	1	0	DNAJC1	22088257	0.998000	0.40836	1.000000	0.80357	0.506000	0.33950	4.877000	0.63086	2.697000	0.92050	0.491000	0.48974	GAG		0.562	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		124	502	0	0	0	1	0	124	502					T	22048251	C	T	22048251	3	4	79	1	0	0	0	0	1	0	0	0	4644	893	31	1	228	1	DNAJC1	10	22048251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	22048251	113486496	10853	21170											
DNAJC1	64215	broad.mit.edu	37	chr10	22048286	22048286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctgctatgtcaaagTccttctgccgcttggctctg	9	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048286T>C	ENST00000376980.3	-	11	1699	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	470					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATGTCAAAGTCCTTCTGCCG	0.587																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1408-1410)gAc>gGc		DnaJ (Hsp40) homolog, subfamily C, member 1							99	96	97					10																	22048286		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048286T>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1409A>G	10.37:g.22048286T>C	ENSP00000366179:p.Asp470Gly						p.D470G	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			11	1699	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	470					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1409A>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531884	0.64972	.	.	ENSG00000136770	ENST00000376980	T	0.66815	-0.23	5.58	5.58	0.84498	.	0.100975	0.64402	D	0.000003	T	0.80571	0.4648	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.82575	-0.0389	10	0.72032	D	0.01	-7.77	15.7332	0.77822	0.0:0.0:0.0:1.0	.	191;470	Q96NY3;Q96KC8	.;DNJC1_HUMAN	G	470	ENSP00000366179:D470G	ENSP00000366179:D470G	D	-	2	0	DNAJC1	22088292	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.948000	0.87774	2.132000	0.65825	0.402000	0.26972	GAC		0.587	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		11	497	0	0	0	1	0	11	497					C	22048286	T	C	22048286	3	2	79	1	0	0	0	0	1	0	0	0	4644	1667	58	4	263	4	DNAJC1	10	22048286	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	22048286	113486461	10854	21171											
BMI1	648	broad.mit.edu	37	chr10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccaatagacctcgaaaatCatcagtaaatgggtcatcag	8	9	4	1	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*|RP11-573G6.9_ENST00000606988.1_lincRNA	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	315	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.S315L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCTCGAAAATCATCAGTAAAT	0.403																																						ENST00000376663.3																			1	Substitution - Missense(1)	p.S315L(1)	skin(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(943-945)tCa>tAa		BMI1 polycomb ring finger oncogene							122	118	119					10																	22618434		2203	4300	6503	SO:0001587	stop_gained	648							g.chr10:22618434C>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.944C>A	10.37:g.22618434C>A	ENSP00000365851:p.Ser315*					COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*	p.S315*	NM_005180.8	NP_005171.4					10	1449	+								Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.944C>A	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341758	0.97489	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	.	.	.	5.58	5.58	0.84498	.	0.421653	0.25817	N	0.028101	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.5961	12.541	0.56169	0.0:0.9231:0.0:0.0769	.	.	.	.	X	227;315	.	ENSP00000365851:S315X	S	+	2	0	BMI1	22658440	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	4.119000	0.57891	2.638000	0.89438	0.650000	0.86243	TCA		0.403	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		65	304	1	0	1.12612e-26	1	1.29957e-26	65	304					A	22618434	C	A	22618434	4	1	79	1	0	0	0	0	0	1	0	0	1457	838	29	3	978	3	BMI1	10	22618434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570148	22618434	112916313	10855	21172											
SPAG6	9576	broad.mit.edu	37	chr10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcctggcatcatgatgCttggttatgtagcagctcat	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376624.3	+	7	1091	c.949C>A	c.(949-951)Ctt>Att	p.L317I	SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376601.1_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	317					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1177-1179)Ctt>Att		sperm associated antigen 6							187	157	167					10																	22678185		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22678185C>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.949C>A	10.37:g.22678185C>A	ENSP00000365811:p.Leu317Ile					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.L317I|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I	p.L393I			O75602	SPAG6_HUMAN			7	1319	+			317					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1177C>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981469	0.74474	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.74526	-0.85;0.62;-0.85;-0.85	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.44195	0.736;0.668;0.828;0.828	B;P;B;B	0.47162	0.255;0.54;0.31;0.333	T	0.71570	-0.4553	10	0.30854	T	0.27	-16.9601	19.9238	0.97097	0.0:1.0:0.0:0.0	.	292;393;317;317	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	317;393;292;317	ENSP00000365811:L317I;ENSP00000365788:L393I;ENSP00000441325:L292I;ENSP00000323599:L317I	ENSP00000323599:L317I	L	+	1	0	SPAG6	22718191	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.570000	0.82390	2.712000	0.92718	0.650000	0.86243	CTT		0.468	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			24	227	1	0	6.36457e-07	1	6.58826e-07	24	227					A	22678185	C	A	22678185	3	1	79	1	0	0	0	0	1	0	0	0	15034	797	28	3	975	3	SPAG6	10	22678185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59751	22678185	112856562	10856	21173											
SPAG6	9576	broad.mit.edu	37	chr10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgatagcaaagctcgacGactttttgtaacaagtggtg	11	7	0	1	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376624.3	+	10	1485	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000313311.6_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	448					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1570-1572)cGa>cAa		sperm associated antigen 6		G	GLN/ARG,	0,4406		0,0,2203	74	73	73		1343,	3.9	0	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	SPAG6	NM_012443.2,NM_172242.1	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	448/510,	22699988	1,13005	2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22699988G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1343G>A	10.37:g.22699988G>A	ENSP00000365811:p.Arg448Gln					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000376624.3_Missense_Mutation_p.R448Q|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q	p.R524Q			O75602	SPAG6_HUMAN			10	1713	+			448					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1571G>A	CCDS7139.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.38	3.106882	0.56291	0.0	1.16E-4	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63913	-0.07;-0.07;0.75;-0.07	5.97	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	N	0.000004	T	0.61274	0.2334	M	0.77616	2.38	0.36197	D	0.850442	P;P;P	0.51653	0.947;0.945;0.947	B;P;B	0.46758	0.277;0.526;0.206	T	0.67639	-0.5619	10	0.05351	T	0.99	-11.9705	10.7739	0.46338	0.173:0.0:0.827:0.0	.	423;524;448	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	Q	448;524;209;423	ENSP00000365811:R448Q;ENSP00000365788:R524Q;ENSP00000365786:R209Q;ENSP00000441325:R423Q	ENSP00000365786:R209Q	R	+	2	0	SPAG6	22739994	1.000000	0.71417	0.043000	0.18650	0.637000	0.38172	6.594000	0.74104	0.674000	0.31244	0.591000	0.81541	CGA		0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			48	227	0	0	0	1	0	48	227					A	22699988	G	A	22699988	3	1	79	1	0	0	0	0	1	0	0	0	15034	1058	37	1	1381	1	SPAG6	10	22699988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21803	22699988	112834759	10857	21174											
PIP4K2A	5305	broad.mit.edu	37	chr10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaagtgcttcttcttggtCttggtcttgctcgccaggac	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647																																						ENST00000376573.4																			1	Substitution - Missense(1)	p.K17N(1)	lung(1)	endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(49-51)aaG>aaT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							87	79	82					10																	23003205		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003205C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.51G>T	10.37:g.23003205C>A	ENSP00000365757:p.Lys17Asn						p.K17N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			1	279	-			17					B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.51G>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943268	0.73672	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	PIP4K2A	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG		0.647	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		8	224	1	0	0.00621372	1	0.0062537	8	224					A	23003205	C	A	23003205	3	1	79	1	0	0	0	0	1	0	0	0	11978	912	32	3	1209	3	PIP4K2A	10	23003205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303217	23003205	112531542	10858	21175											
ARMC3	219681	broad.mit.edu	37	chr10	23287078	23287078	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttcatttactcagcGctgctgctgaagctgatggt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Splice_Site_p.A130T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T|ARMC3_ENST00000409983.3_Splice_Site_p.A393T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	393						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e11-1		armadillo repeat containing 3							53	46	48					10																	23287078		2203	4300	6503	SO:0001630	splice_region_variant	219681						binding	g.chr10:23287078G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1176-1G>A	10.37:g.23287078G>A						ARMC3_ENST00000376528.4_Splice_Site_p.A130_splice|ARMC3_ENST00000409049.3_Splice_Site_p.A393_splice|ARMC3_ENST00000409983.3_Splice_Site_p.A393_splice	p.A393_splice	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1261	+			393					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Splice_Site	SNP	ENST00000298032.5	37	c.1175_splice	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208318	0.95033	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.206506	0.50627	N	0.000119	D	0.85182	0.5638	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.78314	0.617;0.991	D	0.84323	0.0517	10	0.40728	T	0.16	-15.2023	19.5272	0.95212	0.0:0.0:1.0:0.0	.	393;393	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	393;393;329;393;130	ENSP00000298032:A393T;ENSP00000386943:A393T;ENSP00000387288:A393T;ENSP00000365711:A130T	ENSP00000298032:A393T	A	+	1	0	ARMC3	23327084	0.999000	0.42202	0.370000	0.25965	0.981000	0.71138	3.217000	0.51184	2.612000	0.88384	0.563000	0.77884	GCT		0.378	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	Missense_Mutation	24	111	0	0	0	1	0	24	111					A	23287078	G	A	23287078	5	1	79	1	0	0	0	0	0	0	1	0	953	1101	38	1	1215	1	ARMC3	10	23287078	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283873	23287078	112247669	10859	21176											
ARMC3	219681	broad.mit.edu	37	chr10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagccattgccaacgctgCtacagtattaacaaacatgg	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	419						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1255-1257)gCt>gGt		armadillo repeat containing 3							74	59	64					10																	23287157		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287157C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1256C>G	10.37:g.23287157C>G	ENSP00000298032:p.Ala419Gly					ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G	p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1340	+			419					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1256C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680206	0.47886	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.277507	0.40728	N	0.001023	D	0.87799	0.6268	M	0.92459	3.31	0.46096	D	0.998869	D;D	0.89917	0.998;1.0	D;D	0.77004	0.969;0.989	D	0.89573	0.3815	10	0.87932	D	0	-29.2057	9.8185	0.40867	0.0:0.7844:0.1399:0.0757	.	419;419	Q5W041-4;Q5W041	.;ARMC3_HUMAN	G	419;419;355;419;156	ENSP00000298032:A419G;ENSP00000386943:A419G;ENSP00000387288:A419G;ENSP00000365711:A156G	ENSP00000298032:A419G	A	+	2	0	ARMC3	23327163	0.993000	0.37304	0.705000	0.30386	0.225000	0.24961	3.558000	0.53749	2.461000	0.83175	0.563000	0.77884	GCT		0.473	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		22	85	0	0	0	1	0	22	85					G	23287157	C	G	23287157	3	3	79	1	0	0	0	0	1	0	0	0	953	797	28	5	1294	5	ARMC3	10	23287157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	23287157	112247590	10860	21177											
ARMC3	219681	broad.mit.edu	37	chr10	23287286	23287286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcaaagctgctctcgCtgtcaccgcaactgcgtgtg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287286C>A	ENST00000298032.5	+	11	1469	c.1385C>A	c.(1384-1386)gCt>gAt	p.A462D	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	462						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGCTCTCGCTGTCACCGCA	0.502																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1384-1386)gCt>gAt		armadillo repeat containing 3							62	58	59					10																	23287286		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287286C>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1385C>A	10.37:g.23287286C>A	ENSP00000298032:p.Ala462Asp					ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D	p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1469	+			462					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1385C>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278603	0.59758	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;1.11;0.33	5.44	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	1.058450	0.07280	N	0.870563	T	0.61689	0.2367	L	0.32530	0.975	0.09310	N	1	P;P	0.44946	0.534;0.846	B;B	0.43809	0.432;0.209	T	0.51942	-0.8641	10	0.87932	D	0	1.1344	5.6993	0.17873	0.1256:0.5985:0.0:0.2759	.	462;462	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	462;462;398;462;199	ENSP00000298032:A462D;ENSP00000386943:A462D;ENSP00000387288:A462D;ENSP00000365711:A199D	ENSP00000298032:A462D	A	+	2	0	ARMC3	23327292	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	0.349000	0.20055	0.002000	0.14630	0.467000	0.42956	GCT		0.502	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		23	113	1	0	4.26978e-12	1	4.57227e-12	23	113					A	23287286	C	A	23287286	3	1	79	1	0	0	0	0	1	0	0	0	953	797	28	3	1423	3	ARMC3	10	23287286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	23287286	112247461	10861	21178											
ARMC3	219681	broad.mit.edu	37	chr10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaattgacacaggtatgtaGcagaaaaaatgggtggtaag	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	752						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2254-2256)Gca>Aca		armadillo repeat containing 3							62	59	60					10																	23321797		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23321797G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2254G>A	10.37:g.23321797G>A	ENSP00000298032:p.Ala752Thr					ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	p.A752T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			18	2338	+			752					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2254G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671896	0.47781	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.49139	0.79;0.8;2.02	5.37	2.33	0.28932	.	0.645585	0.17454	N	0.173689	T	0.52901	0.1763	L	0.58101	1.795	0.40605	D	0.981613	D;D	0.55605	0.965;0.972	P;P	0.54100	0.487;0.742	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.7438	8.5412	0.33393	0.1382:0.0:0.7369:0.125	.	745;752	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	752;745;489	ENSP00000298032:A752T;ENSP00000386943:A745T;ENSP00000365711:A489T	ENSP00000298032:A752T	A	+	1	0	ARMC3	23361803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.981000	0.49329	0.747000	0.32809	-0.266000	0.10368	GCA		0.318	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		27	136	0	0	0	1	0	27	136					A	23321797	G	A	23321797	3	1	79	1	0	0	0	0	1	0	0	0	953	971	34	2	2320	2	ARMC3	10	23321797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	23321797	112212950	10862	21179											
ARMC3	219681	broad.mit.edu	37	chr10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcattggttgctccctagttCgcggagagtacggtagagcg	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2449-2451)Cgc>Tgc		armadillo repeat containing 3							112	109	110					10																	23326238		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23326238C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2449C>T	10.37:g.23326238C>T	ENSP00000298032:p.Arg817Cys					ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	p.R817C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			19	2533	+			817					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2449C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	ARMC3	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC		0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		75	329	0	0	0	1	0	75	329					T	23326238	C	T	23326238	3	4	79	1	0	0	0	0	1	0	0	0	953	884	31	1	2519	1	ARMC3	10	23326238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4441	23326238	112208509	10863	21180											
MSRB2	22921	broad.mit.edu	37	chr10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagttcaaaccaaggaaAcactgaccatcttcaagagt	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	181					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	ENST00000376510.3																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9						c.(541-543)aaA>aaC		methionine sulfoxide reductase B2	L-Methionine(DB00134)						105	100	102					10																	23409785		1999	4151	6150	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23409785A>C	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.543A>C	10.37:g.23409785A>C	ENSP00000365693:p.Lys181Asn					MSRB2_ENST00000468633.1_3'UTR	p.K181N	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN			5	646	+			181					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.543A>C	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255142	0.39896	.	.	ENSG00000148450	ENST00000376510	T	0.76448	-1.02	5.11	-1.37	0.09056	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.989465	0.08160	U	0.988579	T	0.61286	0.2335	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.28991	0.097	T	0.51268	-0.8727	10	0.59425	D	0.04	2.1645	4.2583	0.10728	0.4603:0.0:0.379:0.1607	.	181	Q9Y3D2	MSRB2_HUMAN	N	181	ENSP00000365693:K181N	ENSP00000365693:K181N	K	+	3	2	MSRB2	23449791	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.456000	0.21859	-0.537000	0.06290	-0.256000	0.11100	AAA		0.458	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		24	112	0	0	0	1	0	24	112					C	23409785	A	C	23409785	3	2	79	1	0	0	0	0	1	0	0	0	9929	40	2	4	561	4	MSRB2	10	23409785	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83547	23409785	112124962	10864	21181											
PTF1A	256297	broad.mit.edu	37	chr10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggacgcggtgttgctggAgcacttccccgggggcctag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	7					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|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 (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(19-21)gAg>gTg		pancreas specific transcription factor, 1a							50	48	49					10																	23481479		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23481479A>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"Basic helix-loop-helix proteins"	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.20A>T	10.37:g.23481479A>T	ENSP00000365687:p.Glu7Val						p.E7V	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			1	224	+			7					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.20A>T	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887566	0.72410	.	.	ENSG00000168267	ENST00000376504	D	0.96073	-3.9	2.96	2.96	0.34315	.	0.140467	0.46442	U	0.000299	D	0.93245	0.7848	L	0.27053	0.805	0.40935	D	0.984423	D	0.64830	0.994	P	0.53266	0.722	D	0.93282	0.6661	10	0.87932	D	0	-12.742	10.8941	0.47012	1.0:0.0:0.0:0.0	.	7	Q7RTS3	PTF1A_HUMAN	V	7	ENSP00000365687:E7V	ENSP00000365687:E7V	E	+	2	0	PTF1A	23521485	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	8.002000	0.88514	1.222000	0.43521	0.260000	0.18958	GAG		0.647	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		51	307	0	0	0	1	0	51	307					T	23481479	A	T	23481479	3	4	79	1	0	0	0	0	1	0	0	0	12787	304	11	5	22	5	PTF1A	10	23481479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71694	23481479	112053268	10865	21182											
KIAA1217	56243	broad.mit.edu	37	chr10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaaggcaatctgcatgTaacatcaccagaagatgcag	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	32					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCTGCATGTAACATCACCA	0.428																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(94-96)gTa>gCa		KIAA1217							61	52	55					10																	24508579		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508579T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.95T>C	10.37:g.24508579T>C	ENSP00000365637:p.Val32Ala					KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	125	+			32					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.95T>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706174	0.30232	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	3.52	0.40303	.	0.362629	0.20046	N	0.100403	T	0.43077	0.1231	L	0.34521	1.04	0.27381	N	0.955423	B;B;B;B	0.18310	0.003;0.001;0.027;0.003	B;B;B;B	0.16289	0.015;0.007;0.015;0.009	T	0.30765	-0.9967	10	0.05833	T	0.94	.	8.2229	0.31552	0.0:0.0671:0.3822:0.5507	.	32;32;32;32	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	A	32	ENSP00000365639:V32A;ENSP00000392625:V32A;ENSP00000365637:V32A;ENSP00000365635:V32A	ENSP00000365635:V32A	V	+	2	0	KIAA1217	24548585	0.998000	0.40836	0.329000	0.25429	0.565000	0.35776	2.851000	0.48302	0.476000	0.27440	0.533000	0.62120	GTA		0.428	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		30	114	0	0	0	1	0	30	114					C	24508579	T	C	24508579	3	2	79	1	0	0	0	0	1	0	0	0	8246	1638	57	4	101	4	KIAA1217	10	24508579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1027100	24508579	111026168	10866	21183											
KIAA1217	56243	broad.mit.edu	37	chr10	24783453	24783453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcaagccatggagaaAcagattgccagtttaactgg	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000376454.3	+	7	1734	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	568					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGGAGAAACAGATTGCCA	0.413																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1702-1704)aaA>aaG		KIAA1217							106	100	102					10																	24783453		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24783453A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1704A>G	10.37:g.24783453A>G						KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	p.K568K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			7	1734	+			568					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1704A>G	CCDS31165.1																																																																																				0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		55	252	0	0	0	1	0	55	252					G	24783453	A	G	24783453	2	3	79	1	0	0	0	0	0	0	0	1	8246	40	2	4		4	KIAA1217	10	24783453	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274874	24783453	110751294	10867	21184											
KIAA1217	56243	broad.mit.edu	37	chr10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaaggcacggacgcagCccaagccgcacagtacatgg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000376454.3	+	13	2525	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	832					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGACGCAGCCCAAGCCGCA	0.567																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1543-1545)gCc>gTc		KIAA1217							73	75	74					10																	24813290		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813290C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2495C>T	10.37:g.24813290C>T	ENSP00000365637:p.Ala832Val					KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A832V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	p.A515V			Q5T5P2	SKT_HUMAN			8	1804	+			832					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1544C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598899	0.28445	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.61	5.61	0.85477	.	0.937129	0.09094	N	0.849465	T	0.44477	0.1295	L	0.29908	0.895	0.25320	N	0.989121	B;B;B;B;P;B;P;B	0.43477	0.383;0.098;0.383;0.011;0.707;0.383;0.808;0.328	B;B;B;B;B;B;B;B	0.40864	0.124;0.021;0.124;0.028;0.318;0.248;0.342;0.178	T	0.23583	-1.0184	10	0.18276	T	0.48	.	14.4641	0.67472	0.1471:0.8529:0.0:0.0	.	797;797;515;515;515;515;832;832	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	752;797;797;515;832;797;647;515;515;515;515;515	ENSP00000365645:A752V;ENSP00000365639:A797V;ENSP00000392625:A797V;ENSP00000365637:A832V;ENSP00000365635:A797V;ENSP00000404798:A647V;ENSP00000302343:A515V;ENSP00000379722:A515V;ENSP00000365634:A515V;ENSP00000379723:A515V	ENSP00000302343:A515V	A	+	2	0	KIAA1217	24853296	0.042000	0.20092	0.987000	0.45799	0.222000	0.24845	2.307000	0.43682	2.643000	0.89663	0.561000	0.74099	GCC		0.567	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		19	409	0	0	0	1	0	19	409					T	24813290	C	T	24813290	3	4	79	1	0	0	0	0	1	0	0	0	8246	739	26	2	2545	2	KIAA1217	10	24813290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29837	24813290	110721457	10868	21185											
KIAA1217	56243	broad.mit.edu	37	chr10	24820880	24820880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaccacgaggtcaggCgatgtggtctacaccggcag	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000376454.3	+	15	3234	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000396445.1_Silent_p.G751G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1068					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAGGTCAGGCGATGTGGTCT	0.577																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2251-2253)ggC>ggT		KIAA1217							66	53	58					10																	24820880		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820880C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3204C>T	10.37:g.24820880C>T						KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376454.3_Silent_p.G1068G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000396445.1_Silent_p.G751G	p.G751G			Q5T5P2	SKT_HUMAN			10	2513	+			1068					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2253C>T	CCDS31165.1																																																																																				0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		21	202	0	0	0	1	0	21	202					T	24820880	C	T	24820880	2	4	79	1	0	0	0	0	0	0	0	1	8246	755	27	1		1	KIAA1217	10	24820880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7590	24820880	110713867	10869	21186											
KIAA1217	56243	broad.mit.edu	37	chr10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaagggagaagacataCagacggttaatatcgatgcc	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000376454.3	+	19	4264	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1412					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGACATACAGACGGTTAA	0.473																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3283-3285)Cag>Tag		KIAA1217							82	79	80					10																	24832433		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832433C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4234C>T	10.37:g.24832433C>T	ENSP00000365637:p.Gln1412*					KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1412*|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	p.Q1095*			Q5T5P2	SKT_HUMAN			14	3543	+			1412					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.3283C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	40	8.491585	0.98834	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1412;1095;1095	.	ENSP00000365634:Q1095X	Q	+	1	0	KIAA1217	24872439	1.000000	0.71417	0.959000	0.39883	0.148000	0.21650	7.480000	0.81109	2.680000	0.91292	0.561000	0.74099	CAG		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		54	258	0	0	0	1	0	54	258					T	24832433	C	T	24832433	4	4	79	1	0	0	0	0	0	1	0	0	8246	479	17	2	4308	2	KIAA1217	10	24832433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11553	24832433	110702314	10870	21187											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcttctgtgaaaaaccAgtcatgctaaaatttaaaaa	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAAAAACCAGTCATGCTAA	0.373																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4009-4011)Tgg>Ggg		Rho GTPase activating protein 21							77	81	80					10																	24880606		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880606A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4009T>G	10.37:g.24880606A>C	ENSP00000379709:p.Trp1337Gly					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	p.W1337G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			23	4495	-			1336			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4009T>G	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.833261|2.833261	0.50951|0.50951	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11169	.|2.8;2.8	5.43|5.43	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	.|0.123729	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.62326	.|D	.|0.03	.|.	11.3975|11.3975	0.49851|0.49851	0.9288:0.0:0.0711:0.0|0.9288:0.0:0.0711:0.0	.|.	.|1336	.|Q5T5U3	.|RHG21_HUMAN	R|G	150|1337;786;1124	.|ENSP00000379709:W1337G;ENSP00000365604:W1124G	.|ENSP00000365604:W1124G	L|W	-|-	2|1	0|0	ARHGAP21|ARHGAP21	24920612|24920612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.670000|8.670000	0.91168|0.91168	1.010000|1.010000	0.39314|0.39314	0.460000|0.460000	0.39030|0.39030	CTG|TGG		0.373	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		72	362	0	0	0	1	0	72	362					C	24880606	A	C	24880606	3	2	79	1	0	0	0	0	1	0	0	0	871	188	7	4	1883	4	ARHGAP21	10	24880606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48173	24880606	110654141	10871	21188											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttgtcttctgatgttcGaacaagggtgggaccaaaca	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1307	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGATGTTCGAACAAGGGTG	0.438																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3922-3924)Cga>Tga		Rho GTPase activating protein 21							193	160	172					10																	24880896		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880896G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3922C>T	10.37:g.24880896G>A	ENSP00000379709:p.Arg1308*					ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	p.R1308*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			22	4408	-			1307			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.3922C>T	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.207246|9.207246	0.99099|0.99099	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	.|.	.|.	.|.	5.76|5.76	2.3|2.3	0.28687|0.28687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63200	.|0.2491	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68435	.|-0.5409	.|3	0.02654|.	T|.	1|.	.|.	14.3043|14.3043	0.66375|0.66375	0.0:0.0:0.4766:0.5234|0.0:0.0:0.4766:0.5234	.|.	.|.	.|.	.|.	X|L	1308;757;1095|121	.|.	ENSP00000365604:R1095X|.	R|S	-|-	1|2	2|0	ARHGAP21|ARHGAP21	24920902|24920902	0.960000|0.960000	0.32886|0.32886	0.035000|0.035000	0.18076|0.18076	0.907000|0.907000	0.53573|0.53573	1.010000|1.010000	0.29898|0.29898	0.246000|0.246000	0.21394|0.21394	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.438	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		100	489	0	0	0	1	0	100	489					A	24880896	G	A	24880896	4	1	79	1	0	0	0	0	0	1	0	0	871	1066	37	1	1974	1	ARHGAP21	10	24880896	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	24880896	110653851	10872	21189											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatcatctctgtcttcagCctgaaacaggcattcacagt	6	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1021	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3064-3066)Gct>Act		Rho GTPase activating protein 21							141	132	135					10																	24889643		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889643C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3064G>A	10.37:g.24889643C>T	ENSP00000379709:p.Ala1022Thr					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T|ARHGAP21_ENST00000493154.1_5'UTR	p.A1022T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3550	-			1021			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3064G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005133	0.93287	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	6.02	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047686	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92537	0.6038	10	0.51188	T	0.08	.	16.5796	0.84711	0.1313:0.8687:0.0:0.0	.	1012;1021	F8W9U9;Q5T5U3	.;RHG21_HUMAN	T	1022;809;1012;1022;857	ENSP00000379709:A1022T;ENSP00000365604:A809T;ENSP00000365592:A1012T;ENSP00000405018:A1022T	ENSP00000365604:A809T	A	-	1	0	ARHGAP21	24929649	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.767000	0.85331	1.518000	0.48934	0.655000	0.94253	GCT		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		112	464	0	0	0	1	0	112	464					T	24889643	C	T	24889643	3	4	79	1	0	0	0	0	1	0	0	0	871	739	26	2	2864	2	ARHGAP21	10	24889643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	24889643	110645104	10873	21190											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909750	24909750	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttgagatctgctgcttgaGattccatcagaatgtccact	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	357					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1072-1074)atC>atT		Rho GTPase activating protein 21							58	60	60					10																	24909750		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909750G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1074C>T	10.37:g.24909750G>A						ARHGAP21_ENST00000320481.6_Silent_p.I145I	p.I358I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1560	-			357					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.1074C>T	CCDS7144.2																																																																																				0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		58	253	0	0	0	1	0	58	253					A	24909750	G	A	24909750	2	1	79	1	0	0	0	0	0	0	0	1	871	932	33	2		2	ARHGAP21	10	24909750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20107	24909750	110624997	10874	21191											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909977	24909977	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctattggataacaaatCtacaaccttctcagaaggca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909977C>A	ENST00000396432.2	-	9	1333	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D70Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	282					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAACAAATCTACAACCTTC	0.418																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(847-849)Gat>Tat		Rho GTPase activating protein 21							107	95	99					10																	24909977		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909977C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.847G>T	10.37:g.24909977C>A	ENSP00000379709:p.Asp283Tyr					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D70Y	p.D283Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1333	-			282					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.847G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723954	0.68959	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.58797	2.27;2.41;0.31;0.33	5.35	5.35	0.76521	.	0.187394	0.49916	D	0.000138	T	0.74168	0.3681	M	0.63428	1.95	0.54753	D	0.999983	D;D	0.67145	0.996;0.966	D;P	0.66716	0.946;0.73	T	0.76132	-0.3071	10	0.87932	D	0	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	273;282	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	283;272;70;273;283;118	ENSP00000379709:D283Y;ENSP00000365604:D70Y;ENSP00000365592:D273Y;ENSP00000405018:D283Y	ENSP00000365604:D70Y	D	-	1	0	ARHGAP21	24949983	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	3.021000	0.49651	2.686000	0.91538	0.650000	0.86243	GAT		0.418	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	450	1	0	6.40141e-05	1	6.5221e-05	9	450					A	24909977	C	A	24909977	3	1	79	1	0	0	0	0	1	0	0	0	871	913	32	3	5101	3	ARHGAP21	10	24909977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	24909977	110624770	10875	21192											
ARHGAP21	57584	broad.mit.edu	37	chr10	24910055	24910055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtttgattttgcaaCatctgttggtgatggaggca	13	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	ENST00000396432.2	-	9	1255	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	256					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATTTTGCAACATCTGTTGGT	0.413																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(769-771)Gtt>Att		Rho GTPase activating protein 21							66	58	61					10																	24910055		2202	4280	6482	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910055C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.769G>A	10.37:g.24910055C>T	ENSP00000379709:p.Val257Ile					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	p.V257I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1255	-			256					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.769G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	5.651	0.304756	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.42513	2.92;3.04;0.97;0.98	5.35	4.44	0.53790	.	0.347323	0.30999	N	0.008448	T	0.21062	0.0507	N	0.11927	0.2	0.19300	N	0.999974	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.12734	-1.0536	10	0.14656	T	0.56	.	8.1419	0.31089	0.0:0.7801:0.0:0.2199	.	247;256	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	257;246;44;247;257;92	ENSP00000379709:V257I;ENSP00000365604:V44I;ENSP00000365592:V247I;ENSP00000405018:V257I	ENSP00000365604:V44I	V	-	1	0	ARHGAP21	24950061	0.274000	0.24191	0.997000	0.53966	0.918000	0.54935	0.494000	0.22467	2.686000	0.91538	0.650000	0.86243	GTT		0.413	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		58	249	0	0	0	1	0	58	249					T	24910055	C	T	24910055	3	4	79	1	0	0	0	0	1	0	0	0	871	478	17	2	5179	2	ARHGAP21	10	24910055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	24910055	110624692	10876	21193											
ENKUR	219670	broad.mit.edu	37	chr10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccagcctctgcttgcGgatcttctttggtatagaat	8	10	4	1	rs200773323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	226	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388																																						ENST00000331161.4																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(676-678)Cgc>Tgc		enkurin, TRPC channel interacting protein							112	105	107					10																	25273753		2203	4300	6503	SO:0001583	missense	219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25273753G>A	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"chromosome 10 open reading frame 63"	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.676C>T	10.37:g.25273753G>A	ENSP00000331044:p.Arg226Cys					ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN			5	895	-			226					A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	c.676C>T	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094431	0.56075	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	.	0.363904	0.32473	N	0.006055	T	0.79879	0.4522	M	0.84082	2.675	0.43657	D	0.996073	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82528	-0.0412	9	0.87932	D	0	-25.1717	13.5449	0.61697	0.078:0.0:0.922:0.0	.	226;226	Q5VV23;Q8TC29	.;ENKUR_HUMAN	C	226	.	ENSP00000331044:R226C	R	-	1	0	ENKUR	25313759	0.995000	0.38212	0.908000	0.35775	0.524000	0.34500	2.989000	0.49393	2.602000	0.87976	0.557000	0.71058	CGC		0.388	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		55	255	0	0	0	1	0	55	255					A	25273753	G	A	25273753	3	1	79	1	0	0	0	0	1	0	0	0	5138	1116	39	1	102	1	ENKUR	10	25273753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363698	25273753	110260994	10877	21194											
GPR158	57512	broad.mit.edu	37	chr10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaatccaaggaggagaCcctgaaaaaccgagtcttct	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	806					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGGAGGAGACCCTGAAAAAC	0.542																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2416-2418)aCc>aTc		G protein-coupled receptor 158							85	94	91					10																	25886972		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886972C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2417C>T	10.37:g.25886972C>T	ENSP00000365529:p.Thr806Ile					GPR158_ENST00000490549.1_3'UTR	p.T806I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2776	+			806					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2417C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881938	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.61742	0.08	5.78	4.87	0.63330	.	0.403301	0.23426	N	0.048316	T	0.51839	0.1698	L	0.34521	1.04	0.19945	N	0.99994	B	0.19935	0.04	B	0.22880	0.042	T	0.42616	-0.9441	10	0.49607	T	0.09	.	19.1354	0.93426	0.1171:0.8828:0.0:0.0	.	806	Q5T848	GP158_HUMAN	I	806	ENSP00000365529:T806I	ENSP00000365529:T806I	T	+	2	0	GPR158	25926978	0.976000	0.34144	1.000000	0.80357	0.478000	0.33099	4.658000	0.61497	0.792000	0.33850	-0.824000	0.03097	ACC		0.542	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		109	488	0	0	0	1	0	109	488					T	25886972	C	T	25886972	3	4	79	1	0	0	0	0	1	0	0	0	6692	507	18	2	2459	2	GPR158	10	25886972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613219	25886972	109647775	10878	21195											
GPR158	57512	broad.mit.edu	37	chr10	25887906	25887906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgtgtgctgggcagagCgaagaactgccccccaaagc	13	11	0	2	rs544868296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1117					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGCAGAGCGAAGAACTGC	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		18800	0.0		0.0	False		,,,				2504	0.001					ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3349-3351)agC>agT		G protein-coupled receptor 158							86	90	89					10																	25887906		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887906C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3351C>T	10.37:g.25887906C>T						GPR158_ENST00000490549.1_3'UTR	p.S1117S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3710	+			1117					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.3351C>T	CCDS31166.1																																																																																				0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		61	346	0	0	0	1	0	61	346					T	25887906	C	T	25887906	2	4	79	1	0	0	0	0	0	0	0	1	6692	767	27	1		1	GPR158	10	25887906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	934	25887906	109646841	10879	21196											
MYO3A	53904	broad.mit.edu	37	chr10	26305807	26305807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacatccgtaggaacaccGttttggatggctcctgaggt	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(565-567)ccG>ccA		myosin IIIA							113	106	109					10																	26305807		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26305807G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.567G>A	10.37:g.26305807G>A						MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P	p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			7	733	+			189			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.567G>A	CCDS7148.1																																																																																				0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		56	290	0	0	0	1	0	56	290					A	26305807	G	A	26305807	2	1	79	1	0	0	0	0	0	0	0	1	10117	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417901	26305807	109228940	10880	21197											
MYO3A	53904	broad.mit.edu	37	chr10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtggatgctagagttAttgaatatgaggataactgg	13	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	767	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCTAGAGTTATTGAATATGA	0.338																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2299-2301)Att>Ttt		myosin IIIA							128	128	128					10																	26432413		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432413A>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2299A>T	10.37:g.26432413A>T	ENSP00000265944:p.Ile767Phe					MYO3A_ENST00000543632.1_Intron	p.I767F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			21	2465	+			767			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2299A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929198	0.73327	.	.	ENSG00000095777	ENST00000265944	D	0.89552	-2.53	6.02	3.68	0.42216	Myosin head, motor domain (3);	0.043720	0.85682	D	0.000000	D	0.95124	0.8420	M	0.93241	3.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94437	0.7655	10	0.87932	D	0	.	10.4349	0.44430	0.8684:0.0:0.1316:0.0	.	767	Q8NEV4	MYO3A_HUMAN	F	767	ENSP00000265944:I767F	ENSP00000265944:I767F	I	+	1	0	MYO3A	26472419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.755000	0.55197	0.512000	0.28257	0.528000	0.53228	ATT		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		39	165	0	0	0	1	0	39	165					T	26432413	A	T	26432413	3	4	79	1	0	0	0	0	1	0	0	0	10117	449	16	5	2373	5	MYO3A	10	26432413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126606	26432413	109102334	10881	21198											
MYO3A	53904	broad.mit.edu	37	chr10	26443677	26443677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccttggtctccttagggCgacactggagaagccacacg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	906	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCCTTAGGGCGACACTGGAG	0.393																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2716-2718)ggC>ggT		myosin IIIA							99	97	98					10																	26443677		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26443677C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2718C>T	10.37:g.26443677C>T						MYO3A_ENST00000543632.1_Intron	p.G906G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			25	2884	+			906			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2718C>T	CCDS7148.1																																																																																				0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		28	99	0	0	0	1	0	28	99					T	26443677	C	T	26443677	2	4	79	1	0	0	0	0	0	0	0	1	10117	755	27	1		1	MYO3A	10	26443677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11264	26443677	109091070	10882	21199											
MYO3A	53904	broad.mit.edu	37	chr10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctatgatccagagttActatcagaggtacacagagg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1240					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCCAGAGTTACTATCAGAGG	0.463																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3718-3720)tAc>tGc		myosin IIIA							104	106	105					10																	26462912		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462912A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3719A>G	10.37:g.26462912A>G	ENSP00000265944:p.Tyr1240Cys					MYO3A_ENST00000543632.1_Intron	p.Y1240C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3885	+			1240					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3719A>G	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439646	0.12104	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	4.89	-0.76	0.11041	.	1.242500	0.05268	N	0.516955	T	0.65133	0.2662	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.62326	D	0.03	.	6.3292	0.21260	0.4619:0.0:0.0679:0.4702	.	1240	Q8NEV4	MYO3A_HUMAN	C	1240	ENSP00000265944:Y1240C	ENSP00000265944:Y1240C	Y	+	2	0	MYO3A	26502918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.522000	0.22909	-0.321000	0.08627	-0.336000	0.08194	TAC		0.463	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		77	320	0	0	0	1	0	77	320					G	26462912	A	G	26462912	3	3	79	1	0	0	0	0	1	0	0	0	10117	391	14	4	3829	4	MYO3A	10	26462912	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19235	26462912	109071835	10883	21200											
MYO3A	53904	broad.mit.edu	37	chr10	26490219	26490219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatccaagaagaaaaacgaaGaccaaggaaagacaggtaat	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	ENST00000265944.5	+	33	4737	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1524					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAACGAAGACCAAGGAAA	0.249																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4570-4572)aGa>aAa		myosin IIIA							24	24	24					10																	26490219		2201	4297	6498	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26490219G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4571G>A	10.37:g.26490219G>A	ENSP00000265944:p.Arg1524Lys					MYO3A_ENST00000543632.1_Intron	p.R1524K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			33	4737	+			1524					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4571G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022481	0.08006	.	.	ENSG00000095777	ENST00000265944	T	0.71341	-0.56	5.71	3.68	0.42216	.	0.205122	0.52532	D	0.000074	T	0.44644	0.1303	N	0.11845	0.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	8.5118	0.33222	0.1928:0.0:0.8072:0.0	.	1524	Q8NEV4	MYO3A_HUMAN	K	1524	ENSP00000265944:R1524K	ENSP00000265944:R1524K	R	+	2	0	MYO3A	26530225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.107000	0.41844	0.644000	0.30656	0.557000	0.71058	AGA		0.249	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	63	0	0	0	1	0	5	63					A	26490219	G	A	26490219	3	1	79	1	0	0	0	0	1	0	0	0	10117	942	33	2	4693	2	MYO3A	10	26490219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27307	26490219	109044528	10884	21201											
GAD2	2572	broad.mit.edu	37	chr10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctttcctcgtgagtgCcacagctggaaccaccgtgt	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	334					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCGTGAGTGCCACAGCTGGA	0.458																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1000-1002)gCc>gTc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						171	164	166					10																	26559594		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559594C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1001C>T	10.37:g.26559594C>T	ENSP00000365437:p.Ala334Val					GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1504	+			334					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1001C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884271	0.91814	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.54866	0.55;0.55	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097447	0.64402	D	0.000001	T	0.78672	0.4320	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.83351	-0.0003	10	0.87932	D	0	-17.2435	19.2442	0.93895	0.0:1.0:0.0:0.0	.	334	Q05329	DCE2_HUMAN	V	334	ENSP00000365437:A334V;ENSP00000259271:A334V	ENSP00000259271:A334V	A	+	2	0	GAD2	26599600	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.601000	0.67606	2.660000	0.90430	0.643000	0.83706	GCC		0.458	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		36	772	0	0	0	1	0	36	772					T	26559594	C	T	26559594	3	4	79	1	0	0	0	0	1	0	0	0	6207	739	26	2	1039	2	GAD2	10	26559594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69375	26559594	108975153	10885	21202											
GAD2	2572	broad.mit.edu	37	chr10	26569946	26569946	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttattttagggccaactCtgtgacgtggaatccacaca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	ENST00000376261.3	+	12	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	389					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGCCAACTCTGTGACGTGG	0.498																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1165-1167)tCt>tAt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						181	169	173					10																	26569946		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26569946C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1166C>A	10.37:g.26569946C>A	ENSP00000365437:p.Ser389Tyr					GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			12	1669	+			389					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1166C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106318	0.77096	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.66638	-0.22;-0.22	4.77	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059798	0.64402	D	0.000001	D	0.88926	0.6570	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93226	0.6613	10	0.87932	D	0	-9.0047	15.1527	0.72713	0.0:0.8578:0.1422:0.0	.	389	Q05329	DCE2_HUMAN	Y	389	ENSP00000365437:S389Y;ENSP00000259271:S389Y	ENSP00000259271:S389Y	S	+	2	0	GAD2	26609952	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.734000	0.68580	1.097000	0.41459	0.650000	0.86243	TCT		0.498	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		24	641	1	0	6.12954e-19	1	6.81806e-19	24	641					A	26569946	C	A	26569946	3	1	79	1	0	0	0	0	1	0	0	0	6207	913	32	3	1212	3	GAD2	10	26569946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10352	26569946	108964801	10886	21203											
ABI1	10006	broad.mit.edu	37	chr10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctagtaacatctgcagctCtgccattttccacccctctg	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000376142.2	-	1	78	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	3					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(7-9)Gag>Aag		abl-interactor 1							159	119	133					10																	27149786		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27149786C>T	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.7G>A	10.37:g.27149786C>T	ENSP00000365312:p.Glu3Lys					ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000376142.2_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K	p.E3K			Q8IZP0	ABI1_HUMAN			1	230	-			3					A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.7G>A	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416588	0.83449	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23891	0.031;0.001;0.093;0.008;0.009;0.008;0.029;0.01;0.01;0.017;0.017;0.022	B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.007;0.007;0.035;0.012;0.013;0.003;0.044;0.006;0.016;0.024;0.024;0.011	D	0.91037	0.4868	10	0.72032	D	0.01	-8.868	17.3129	0.87214	0.0:1.0:0.0:0.0	.	3;3;3;3;3;28;3;3;3;3;3;3	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	3	ENSP00000365308:E3K;ENSP00000365340:E3K;ENSP00000365336:E3K;ENSP00000365330:E3K;ENSP00000365312:E3K;ENSP00000352114:E3K;ENSP00000365309:E3K;ENSP00000347555:E3K;ENSP00000279599:E3K;ENSP00000365304:E3K;ENSP00000365307:E3K;ENSP00000439646:E3K;ENSP00000440101:E3K;ENSP00000365310:E3K	ENSP00000279599:E3K	E	-	1	0	ABI1	27189792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.100000	0.76989	2.496000	0.84212	0.563000	0.77884	GAG		0.562	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		14	404	0	0	0	1	0	14	404					T	27149786	C	T	27149786	3	4	79	1	0	0	0	0	1	0	0	0	88	922	32	2	1622	2	ABI1	10	27149786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	579840	27149786	108384961	10887	21204											
ANKRD26	22852	broad.mit.edu	37	chr10	27313378	27313378	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatattaaaatcttacccAgttatctctctttctaattc	2	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	ENST00000376087.4	-	28	4248	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_ENST00000376070.3_Silent_p.T918T|ANKRD26_ENST00000436985.2_Silent_p.T1377T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1360					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATCTTACCCAGTTATCTCTC	0.224																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(4081-4083)acT>acG		ankyrin repeat domain 26							61	60	61					10																	27313378		1777	4040	5817	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27313378A>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4083T>G	10.37:g.27313378A>C						ANKRD26_ENST00000376070.3_Silent_p.T918T|ANKRD26_ENST00000436985.2_Silent_p.T1377T	p.T1361T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			28	4248	-			1360					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.4083T>G	CCDS41499.1																																																																																				0.224	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			27	147	0	0	0	1	0	27	147					C	27313378	A	C	27313378	2	2	79	1	0	0	0	0	0	0	0	1	654	175	7	4		4	ANKRD26	10	27313378	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	163592	27313378	108221369	10888	21205											
ANKRD26	22852	broad.mit.edu	37	chr10	27313399	27313399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatctctctttctaattcAacatttttcttcatttcttg	2	9	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1353					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTCTAATTCAACATTTTTCT	0.249																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(4060-4062)gtT>gtC		ankyrin repeat domain 26							69	69	69					10																	27313399		1777	4046	5823	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27313399A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4062T>C	10.37:g.27313399A>G						ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	p.V1354V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			28	4227	-			1353					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.4062T>C	CCDS41499.1																																																																																				0.249	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			31	162	0	0	0	1	0	31	162					G	27313399	A	G	27313399	2	3	79	1	0	0	0	0	0	0	0	1	654	117	5	4		4	ANKRD26	10	27313399	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	27313399	108221348	10889	21206											
ANKRD26	22852	broad.mit.edu	37	chr10	27382725	27382725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggccaaatgtagagcCgtcctatgagagtgacagga	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATGTAGAGCCGTCCTATGAG	0.398																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(244-246)acG>acA		ankyrin repeat domain 26							85	80	81					10																	27382725		1978	4216	6194	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27382725C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.246G>A	10.37:g.27382725C>T						ANKRD26_ENST00000436985.2_Silent_p.T82T	p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			2	411	-			82					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.246G>A	CCDS41499.1																																																																																				0.398	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			50	206	0	0	0	1	0	50	206					T	27382725	C	T	27382725	2	4	79	1	0	0	0	0	0	0	0	1	654	639	23	1		1	ANKRD26	10	27382725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69326	27382725	108152022	10890	21207											
YME1L1	10730	broad.mit.edu	37	chr10	27436510	27436510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatcctttttgctggctCcatgaacatggatctgtacc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27436510C>T	ENST00000326799.3	-	3	404	c.256G>A	c.(256-258)Gag>Aag	p.E86K	YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	86					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						tttgctggctccatgaacatg	0.453																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(256-258)Gag>Aag		YME1-like 1 ATPase							206	156	173					10																	27436510		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436510C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.256G>A	10.37:g.27436510C>T	ENSP00000318480:p.Glu86Lys					YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K	p.E86K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			3	404	-			86					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.256G>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953921	0.02285	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	D	0.92348	-3.02	2.06	0.00919	0.14078	Peptidase M41, FtsH (1);	1.972690	0.03706	U	0.249369	T	0.82195	0.4984	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.0	T	0.70970	-0.4727	10	0.59425	D	0.04	.	3.2512	0.06815	0.0:0.5467:0.2784:0.1749	.	86;86	Q6PJ89;Q96TA2	.;YMEL1_HUMAN	K	86	ENSP00000318480:E86K	ENSP00000318480:E86K	E	-	1	0	YME1L1	27476516	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	-0.120000	0.10660	0.002000	0.14630	0.467000	0.42956	GAG		0.453	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		9	44	0	0	0	1	0	9	44					T	27436510	C	T	27436510	3	4	79	1	0	0	0	0	1	0	0	0	17541	864	30	2	2137	2	YME1L1	10	27436510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53785	27436510	108098237	10891	21208											
MASTL	84930	broad.mit.edu	37	chr10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgggaagcagtagaactgGatgtaaataatataaatatg	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375940.4	+	8	1270	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000342386.6_Missense_Mutation_p.D405N|MASTL_ENST00000375946.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGAACTGGATGTAAATAA	0.438																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1213-1215)Gat>Aat		microtubule associated serine/threonine kinase-like							80	84	83					10																	27459101		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459101G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1213G>A	10.37:g.27459101G>A	ENSP00000365107:p.Asp405Asn					MASTL_ENST00000375940.4_Missense_Mutation_p.D405N|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR	p.D405N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	1816	+			405			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1213G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379084	0.24944	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	3.91	0.45181	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.694533	0.14607	N	0.309297	T	0.75110	0.3805	M	0.67953	2.075	0.09310	N	1	P;P;P	0.41848	0.646;0.514;0.763	B;B;B	0.41723	0.365;0.216;0.229	T	0.64542	-0.6383	10	0.30854	T	0.27	-13.2781	10.2052	0.43109	0.0:0.1064:0.6707:0.2228	.	405;405;405	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	405	ENSP00000365113:D405N;ENSP00000343446:D405N;ENSP00000365107:D405N	ENSP00000343446:D405N	D	+	1	0	MASTL	27499107	0.000000	0.05858	0.829000	0.32907	0.393000	0.30537	0.040000	0.13905	1.484000	0.48361	0.650000	0.86243	GAT		0.438	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		92	431	0	0	0	1	0	92	431					A	27459101	G	A	27459101	3	1	79	1	0	0	0	0	1	0	0	0	9369	1174	41	2	1243	2	MASTL	10	27459101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22591	27459101	108075646	10892	21209											
ACBD5	91452	broad.mit.edu	37	chr10	27497259	27497259	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctcatcagcacgagggcGatctgctcattgaggctgcc	12	12	4	1	rs181926234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000375888.1	-	10	1411	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000396271.3_Silent_p.I440I|ACBD5_ENST00000375905.4_Silent_p.I405I|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	449					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13635	0.0		0.0	False		,,,				2504	0.0					ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1318-1320)atC>atT		acyl-CoA binding domain containing 5							122	111	115					10																	27497259		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497259G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1347C>T	10.37:g.27497259G>A						ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.I449I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375905.4_Silent_p.I405I	p.I440I	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			10	1446	-			449					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.1320C>T																																																																																					0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		60	664	0	0	0	1	0	60	664					A	27497259	G	A	27497259	2	1	79	1	0	0	0	0	0	0	0	1	125	1048	37	1		1	ACBD5	10	27497259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38158	27497259	108037488	10893	21210											
PTCHD3	374308	broad.mit.edu	37	chr10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttcgtatgcagtcaAacctgtaaatttggagggaa	10	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	405	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1213-1215)tTt>tGt		patched domain containing 3							95	89	91					10																	27692284		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27692284A>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1214T>G	10.37:g.27692284A>C	ENSP00000417658:p.Phe405Cys						p.F405C	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			3	1331	-			405			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1214T>G	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074373	0.01903	.	.	ENSG00000182077	ENST00000438700	D	0.91996	-2.95	4.09	-2.89	0.05665	Sterol-sensing domain (1);	1.570750	0.03132	N	0.165365	T	0.78886	0.4354	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69289	-0.5184	10	0.27785	T	0.31	1.3274	5.6094	0.17396	0.2793:0.5362:0.0762:0.1084	.	405	Q3KNS1	PTHD3_HUMAN	C	405	ENSP00000417658:F405C	ENSP00000417658:F405C	F	-	2	0	PTCHD3	27732290	0.198000	0.23374	0.003000	0.11579	0.003000	0.03518	0.623000	0.24447	-0.412000	0.07519	0.459000	0.35465	TTT		0.438	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		59	340	0	0	0	1	0	59	340					C	27692284	A	C	27692284	3	2	79	1	0	0	0	0	1	0	0	0	12781	14	1	4	1097	4	PTCHD3	10	27692284	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195025	27692284	107842463	10894	21211											
MKX	283078	broad.mit.edu	37	chr10	27964176	27964176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaaactgctgcaccagCggcactttgacagtctttac	7	12	2	1	rs369236488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16742	0.001		0.0	False		,,,				2504	0.0					ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(1039-1041)ccG>ccA		mohawk homeobox		C	,	3,4403	6.2+/-15.9	0,3,2200	172	151	158		1041,1041	-11.2	0	10		158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	347/353,347/353	27964176	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964176C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1041G>A	10.37:g.27964176C>T						MKX_ENST00000419761.1_Silent_p.P347P	p.P347P			Q8IYA7	MKX_HUMAN			7	1473	-			347					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.1041G>A	CCDS7156.1																																																																																				0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		86	459	0	0	0	1	0	86	459					T	27964176	C	T	27964176	2	4	79	1	0	0	0	0	0	0	0	1	9651	755	27	1		1	MKX	10	27964176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271892	27964176	107570571	10895	21212											
ARMC4	55130	broad.mit.edu	37	chr10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccacattcacaagtacttCttcaggctgatctgttagaa	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	771					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTACTTCTTCAGGCTGA	0.433																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2311-2313)Gaa>Taa		armadillo repeat containing 4							141	136	138					10																	28224123		2203	4300	6503	SO:0001587	stop_gained	55130						binding	g.chr10:28224123C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2311G>T	10.37:g.28224123C>A	ENSP00000306410:p.Glu771*					ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	p.E771*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			16	2403	-			771					A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	ENST00000305242.5	37	c.2311G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	42	9.429866	0.99169	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	.	.	.	5.92	5.92	0.95590	.	0.087917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-38.5196	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	463;771;296	.	ENSP00000306410:E771X	E	-	1	0	ARMC4	28264129	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.809000	0.96659	0.655000	0.94253	GAA		0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		18	412	1	0	1.67942e-08	1	1.75525e-08	18	412					A	28224123	C	A	28224123	4	1	79	1	0	0	0	0	0	1	0	0	954	922	32	3	843	3	ARMC4	10	28224123	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	28224123	107310624	10896	21213											
MPP7	143098	broad.mit.edu	37	chr10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgtttctctcaaacGctctattgatggaggcttta	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000375732.1	-	16	1736	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	493	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1477-1479)Cgt>Tgt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							171	169	170					10																	28345483		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345483G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1477C>T	10.37:g.28345483G>A	ENSP00000364884:p.Arg493Cys					MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C|MPP7_ENST00000375732.1_Missense_Mutation_p.R493C	p.R493C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			17	1753	-			493			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1477C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873324	0.72180	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.39467	1.215	0.80722	D	1	B	0.33964	0.434	B	0.31614	0.133	T	0.19128	-1.0315	10	0.48119	T	0.1	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	493	Q5T2T1	MPP7_HUMAN	C	493;493;493;493;254	ENSP00000364884:R493C;ENSP00000337907:R493C;ENSP00000438693:R493C;ENSP00000364871:R493C;ENSP00000398319:R254C	ENSP00000337907:R493C	R	-	1	0	MPP7	28385489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.986000	0.63851	2.709000	0.92574	0.591000	0.81541	CGT		0.373	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		54	615	0	0	0	1	0	54	615					A	28345483	G	A	28345483	3	1	79	1	0	0	0	0	1	0	0	0	9780	1087	38	1	261	1	MPP7	10	28345483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121360	28345483	107189264	10897	21214											
WAC	51322	broad.mit.edu	37	chr10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtactactacaattgtcGaacagaagtttcacaatggg	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000354911.4	+	5	613	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	WAC_ENST00000375664.4_Missense_Mutation_p.R106Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	151	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(316-318)cGa>cAa		WW domain containing adaptor with coiled-coil							84	92	89					10																	28878735		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28878735G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.452G>A	10.37:g.28878735G>A	ENSP00000346986:p.Arg151Gln					WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000354911.4_Missense_Mutation_p.R151Q	p.R106Q			Q9BTA9	WAC_HUMAN			5	926	+			151					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.317G>A	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167989	0.94768	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.24	4.33	0.51752	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.17312	0.475	0.80722	D	1	B;P;P	0.42584	0.274;0.784;0.515	B;B;B	0.40444	0.036;0.329;0.06	T	0.75513	-0.3291	10	0.45353	T	0.12	-5.4856	16.1738	0.81836	0.0:0.1336:0.8664:0.0	.	106;151;151	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	106;106;151;151;106;106;106;106;106;106	ENSP00000364816:R106Q;ENSP00000364797:R106Q;ENSP00000311106:R151Q;ENSP00000346986:R151Q;ENSP00000399706:R106Q;ENSP00000404758:R106Q;ENSP00000400848:R106Q;ENSP00000415645:R106Q	ENSP00000311106:R151Q	R	+	2	0	WAC	28918741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.567000	0.98161	1.315000	0.45114	0.563000	0.77884	CGA		0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		72	322	0	0	0	1	0	72	322					A	28878735	G	A	28878735	3	1	79	1	0	0	0	0	1	0	0	0	17301	1058	37	1	470	1	WAC	10	28878735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	533252	28878735	106656012	10898	21215											
WAC	51322	broad.mit.edu	37	chr10	28878779	28878779	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaaagagtggcttgaaAggtaattagcttttaatcta	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000354911.4	+	5	657	c.496A>C	c.(496-498)Aga>Cga	p.R166R	WAC_ENST00000375664.4_Splice_Site_p.R121R|WAC_ENST00000428935.1_Splice_Site_p.R121R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000347934.4_Splice_Site_p.R166R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	166					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.e5+1		WW domain containing adaptor with coiled-coil							60	65	63					10																	28878779		2203	4299	6502	SO:0001630	splice_region_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28878779A>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.497+1A>C	10.37:g.28878779A>C						WAC_ENST00000428935.1_Splice_Site_p.R121_splice|WAC_ENST00000347934.4_Splice_Site_p.R166_splice|WAC_ENST00000375646.1_Splice_Site_p.R121_splice|WAC_ENST00000354911.4_Splice_Site_p.R166_splice	p.R121_splice			Q9BTA9	WAC_HUMAN			5	970	+			166					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37	c.362_splice	CCDS7159.1																																																																																				0.323	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Silent	54	218	0	0	0	1	0	54	218					C	28878779	A	C	28878779	5	2	79	1	0	0	0	0	0	0	1	0	17301	86	3	4	514	4	WAC	10	28878779	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	28878779	106655968	10899	21216											
WAC	51322	broad.mit.edu	37	chr10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccacatctgcacctccaAcatctgcttcagcggtccct	5	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000354911.4	+	8	1173	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	WAC_ENST00000375664.4_Missense_Mutation_p.T293A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	338					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(877-879)Aca>Gca		WW domain containing adaptor with coiled-coil							136	121	126					10																	28897207		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897207A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1012A>G	10.37:g.28897207A>G	ENSP00000346986:p.Thr338Ala					WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000354911.4_Missense_Mutation_p.T338A	p.T293A			Q9BTA9	WAC_HUMAN			8	1486	+			338					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.877A>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829402	0.32329	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.33654	1.94;1.97;2.01;1.94;1.4	5.38	1.27	0.21489	.	0.539484	0.22346	N	0.061262	T	0.11537	0.0281	N	0.03608	-0.345	0.36342	D	0.859534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15723	-1.0427	10	0.09338	T	0.73	-5.1968	3.9112	0.09204	0.5186:0.0:0.1898:0.2916	.	293;235;338	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	293;190;235;338;293;293;293	ENSP00000364816:T293A;ENSP00000364797:T190A;ENSP00000311106:T235A;ENSP00000346986:T338A;ENSP00000399706:T293A	ENSP00000311106:T235A	T	+	1	0	WAC	28937213	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.518000	0.53451	0.369000	0.24510	0.482000	0.46254	ACA		0.478	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		50	414	0	0	0	1	0	50	414					G	28897207	A	G	28897207	3	3	79	1	0	0	0	0	1	0	0	0	17301	43	2	4	1042	4	WAC	10	28897207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18428	28897207	106637540	10900	21217											
BAMBI	25805	broad.mit.edu	37	chr10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaattacagagggctgCacgatgttctctctcctccc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	110					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.H110Y(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532																																						ENST00000375533.3																			1	Substitution - Missense(1)	p.H110Y(1)	central_nervous_system(1)	central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(328-330)Cac>Tac		BMP and activin membrane-bound inhibitor							103	111	108					10																	28970438		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970438C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.328C>T	10.37:g.28970438C>T	ENSP00000364683:p.His110Tyr						p.H110Y	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	884	+			110						Missense_Mutation	SNP	ENST00000375533.3	37	c.328C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104114	0.37145	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90069	-2.61	5.65	5.65	0.86999	.	0.224686	0.53938	D	0.000058	D	0.84469	0.5479	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.78671	-0.2113	10	0.28530	T	0.3	-21.1251	13.9437	0.64071	0.0:0.9276:0.0:0.0724	.	110;110	Q13145;Q53G66	BAMBI_HUMAN;.	Y	110;97	ENSP00000364683:H110Y	ENSP00000364683:H110Y	H	+	1	0	BAMBI	29010444	1.000000	0.71417	0.952000	0.39060	0.723000	0.41478	6.037000	0.70956	2.668000	0.90789	0.655000	0.94253	CAC		0.532	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		66	389	0	0	0	1	0	66	389					T	28970438	C	T	28970438	3	4	79	1	0	0	0	0	1	0	0	0	1307	710	25	2	334	2	BAMBI	10	28970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73231	28970438	106564309	10901	21218											
BAMBI	25805	broad.mit.edu	37	chr10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaagagttgtggttcCgggcagcggtcattgccgtg	14	10	1	1	rs369894183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	151					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(451-453)Cgg>Tgg		BMP and activin membrane-bound inhibitor		C	TRP/ARG	0,4406		0,0,2203	120	108	112		451	3.8	1	10		112	3,8597	3.0+/-9.4	0,3,4297	no	missense	BAMBI	NM_012342.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	151/261	28970998	3,13003	2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970998C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.451C>T	10.37:g.28970998C>T	ENSP00000364683:p.Arg151Trp						p.R151W	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			3	1007	+			151						Missense_Mutation	SNP	ENST00000375533.3	37	c.451C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494650	0.64186	0.0	3.49E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75921	-0.3147	9	0.87932	D	0	-3.3249	13.3044	0.60345	0.3251:0.6749:0.0:0.0	.	151	Q13145	BAMBI_HUMAN	W	151;138	.	ENSP00000364683:R151W	R	+	1	2	BAMBI	29011004	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.298000	0.51818	2.778000	0.95560	0.655000	0.94253	CGG		0.483	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		65	289	0	0	0	1	0	65	289					T	28970998	C	T	28970998	3	4	79	1	0	0	0	0	1	0	0	0	1307	643	23	1	461	1	BAMBI	10	28970998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	560	28970998	106563749	10902	21219											
SVIL	6840	broad.mit.edu	37	chr10	29754582	29754582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggaactgaccacagaGggggctcgggcagggtacac	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000355867.4	-	34	6827	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.P939P|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2025					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACCACAGAGGGGGCTCGGG	0.587																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6073-6075)ccC>ccA		supervillin							42	46	45					10																	29754582		2203	4299	6502	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754582G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6075C>A	10.37:g.29754582G>T						PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000355867.4_Silent_p.P2025P|SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.P2025P			O95425	SVIL_HUMAN			36	6524	-		Breast(68;0.103)	2025					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.6075C>A	CCDS7164.1																																																																																				0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			45	225	1	0	1.61004e-24	1	1.84098e-24	45	225					T	29754582	G	T	29754582	2	4	79	1	0	0	0	0	0	0	0	1	15473	987	35	3		3	SVIL	10	29754582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783584	29754582	105780165	10903	21220											
SVIL	6840	broad.mit.edu	37	chr10	29762878	29762878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacgcacttctctttgccGgctgccctcaccgagtgctc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000355867.4	-	30	6170	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.A1806A|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1806					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTTTGCCGGCTGCCCTCA	0.597																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5416-5418)gcC>gcT		supervillin							67	49	55					10																	29762878		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29762878G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5418C>T	10.37:g.29762878G>A						SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000355867.4_Silent_p.A1806A|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.A1806A			O95425	SVIL_HUMAN			32	5867	-		Breast(68;0.103)	1806					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5418C>T	CCDS7164.1																																																																																				0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			26	140	0	0	0	1	0	26	140					A	29762878	G	A	29762878	2	1	79	1	0	0	0	0	0	0	0	1	15473	1103	39	1		1	SVIL	10	29762878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8296	29762878	105771869	10904	21221											
SVIL	6840	broad.mit.edu	37	chr10	29769596	29769596	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccacggaaacgctggtGatctcaaactgcctcctgtc	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000355867.4	-	29	5999	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.I1749I|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1749					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5245-5247)atC>atT		supervillin							136	117	124					10																	29769596		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769596G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5247C>T	10.37:g.29769596G>A						SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000355867.4_Silent_p.I1749I|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000375400.3_Silent_p.I1323I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.I1749I			O95425	SVIL_HUMAN			31	5696	-		Breast(68;0.103)	1749					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5247C>T	CCDS7164.1																																																																																				0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			97	439	0	0	0	1	0	97	439					A	29769596	G	A	29769596	2	1	79	1	0	0	0	0	0	0	0	1	15473	1280	45	2		2	SVIL	10	29769596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6718	29769596	105765151	10905	21222											
SVIL	6840	broad.mit.edu	37	chr10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggaggcctgaacccggcGcttgggcctaactgcccgct	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000355867.4	-	22	4818	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1356					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAACCCGGCGCTTGGGCCTA	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4066-4068)Cgc>Tgc		supervillin							40	41	41					10																	29779902		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779902G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4066C>T	10.37:g.29779902G>A	ENSP00000348128:p.Arg1356Cys					SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000355867.4_Missense_Mutation_p.R1356C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C	p.R1356C			O95425	SVIL_HUMAN			24	4515	-		Breast(68;0.103)	1356					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4066C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559153	0.65538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.37411	2.14;2.05;2.05;2.11;1.2	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.67898	-0.5551	10	0.87932	D	0	-17.2551	16.543	0.84407	0.0:0.0:1.0:0.0	.	270;148;930;1356	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	930;1356;1356;270;310;148	ENSP00000364549:R930C;ENSP00000364547:R1356C;ENSP00000348128:R1356C;ENSP00000445472:R270C;ENSP00000440343:R148C	ENSP00000348128:R1356C	R	-	1	0	SVIL	29819908	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.267000	0.72546	2.110000	0.64415	0.485000	0.47835	CGC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			44	210	0	0	0	1	0	44	210					A	29779902	G	A	29779902	3	1	79	1	0	0	0	0	1	0	0	0	15473	1087	38	1	2646	1	SVIL	10	29779902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	29779902	105754845	10906	21223											
KIAA1462	57608	broad.mit.edu	37	chr10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtcctcctgggagtcgGcattcctgaagctcaggact	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1279					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGGAGTCGGCATTCCTGAA	0.632																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3835-3837)gCc>gTc		KIAA1462							48	47	47					10																	30315241		1939	4134	6073	SO:0001583	missense	57608							g.chr10:30315241G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3836C>T	10.37:g.30315241G>A	ENSP00000364526:p.Ala1279Val						p.A1279V	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3937	-			1279					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3836C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.44	2.35	0.29111	.	0.898410	0.09575	N	0.783702	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	P	0.42296	0.775	B	0.42282	0.382	T	0.27872	-1.0061	10	0.66056	D	0.02	-2.1189	16.3529	0.83224	0.0:0.3723:0.6277:0.0	.	1279	Q9P266	K1462_HUMAN	V	1279	ENSP00000364526:A1279V	ENSP00000364526:A1279V	A	-	2	0	KIAA1462	30355247	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.632000	0.30432	0.655000	0.94253	GCC		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		29	331	0	0	0	1	0	29	331					A	30315241	G	A	30315241	3	1	79	1	0	0	0	0	1	0	0	0	8264	1203	42	2	251	2	KIAA1462	10	30315241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535339	30315241	105219506	10907	21224											
KIAA1462	57608	broad.mit.edu	37	chr10	30315768	30315768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttctgtcccgctctccgGatgcccggcaggagggactc	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1103					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGCTCTCCGGATGCCCGGCA	0.627																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3307-3309)atC>atT		KIAA1462							58	60	60					10																	30315768		1958	4168	6126	SO:0001819	synonymous_variant	57608							g.chr10:30315768G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3309C>T	10.37:g.30315768G>A							p.I1103I	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3410	-			1103					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3309C>T	CCDS41500.1																																																																																				0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		157	510	0	0	0	1	0	157	510					A	30315768	G	A	30315768	2	1	79	1	0	0	0	0	0	0	0	1	8264	1164	41	2		2	KIAA1462	10	30315768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527	30315768	105218979	10908	21225											
KIAA1462	57608	broad.mit.edu	37	chr10	30316752	30316752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcggcctgcttttggcgtCggtgcctggtccacggacaa	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	775					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTTGGCGTCGGTGCCTGGT	0.637																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2323-2325)ccG>ccA		KIAA1462							54	58	57					10																	30316752		2081	4202	6283	SO:0001819	synonymous_variant	57608							g.chr10:30316752C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2325G>A	10.37:g.30316752C>T							p.P775P	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2426	-			775					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2325G>A	CCDS41500.1																																																																																				0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		105	461	0	0	0	1	0	105	461					T	30316752	C	T	30316752	2	4	79	1	0	0	0	0	0	0	0	1	8264	871	31	1		1	KIAA1462	10	30316752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	30316752	105217995	10909	21226											
KIAA1462	57608	broad.mit.edu	37	chr10	30316881	30316881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtagggaatgctgtgtgCgtctgagcttcggaggcagc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	732					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGTGTGCGTCTGAGCTT	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2194-2196)acG>acA		KIAA1462							56	58	58					10																	30316881		2118	4244	6362	SO:0001819	synonymous_variant	57608							g.chr10:30316881C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2196G>A	10.37:g.30316881C>T							p.T732T	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2297	-			732					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2196G>A	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		16	262	0	0	0	1	0	16	262					T	30316881	C	T	30316881	2	4	79	1	0	0	0	0	0	0	0	1	8264	755	27	1		1	KIAA1462	10	30316881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	30316881	105217866	10910	21227											
KIAA1462	57608	broad.mit.edu	37	chr10	30317361	30317361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atagtctcgttcatttttttCtttgaacttttcttggtccg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317361C>A	ENST00000375377.1	-	3	1817	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	572					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCATTTTTTTCTTTGAACTTT	0.423																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1714-1716)aaG>aaT		KIAA1462							94	95	95					10																	30317361		1839	4087	5926	SO:0001583	missense	57608							g.chr10:30317361C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1716G>T	10.37:g.30317361C>A	ENSP00000364526:p.Lys572Asn						p.K572N	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1817	-			572					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1716G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967075	0.53507	.	.	ENSG00000165757	ENST00000375377	T	0.20881	2.04	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48305	-0.9047	10	0.87932	D	0	-43.2593	19.6415	0.95760	0.0:1.0:0.0:0.0	.	572	Q9P266	K1462_HUMAN	N	572	ENSP00000364526:K572N	ENSP00000364526:K572N	K	-	3	2	KIAA1462	30357367	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.329000	0.52060	2.651000	0.90000	0.561000	0.74099	AAG		0.423	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		20	715	1	0	3.51602e-12	1	3.76992e-12	20	715					A	30317361	C	A	30317361	3	1	79	1	0	0	0	0	1	0	0	0	8264	912	32	3	2371	3	KIAA1462	10	30317361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	30317361	105217386	10911	21228											
KIAA1462	57608	broad.mit.edu	37	chr10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggagcccctgaggcaagCgggggctcacaccatactca	14	14	2	1	rs78646257	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	402	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGAGGCAAGCGGGGGCTCAC	0.587													C|||	7	0.00139776	0.0	0.0	5008	,	,		17711	0.006		0.001	False		,,,				2504	0.0					ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1204-1206)cGc>cAc		KIAA1462		C	HIS/ARG	2,3896		0,2,1947	62	68	66		1205	-1.1	0	10	dbSNP_131	66	13,8253		0,13,4120	yes	missense	KIAA1462	NM_020848.2	29	0,15,6067	TT,TC,CC		0.1573,0.0513,0.1233	benign	402/1360	30317872	15,12149	1949	4133	6082	SO:0001583	missense	57608							g.chr10:30317872C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1205G>A	10.37:g.30317872C>T	ENSP00000364526:p.Arg402His						p.R402H	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1306	-			402			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1205G>A	CCDS41500.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.565	1.119386	0.20877	5.13E-4	0.001573	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.28	-1.06	0.10002	.	1.047670	0.07427	N	0.895065	T	0.06462	0.0166	L	0.41236	1.265	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.42965	-0.9420	10	0.13853	T	0.58	-0.674	4.8785	0.13668	0.1576:0.29:0.0:0.5523	.	402	Q9P266	K1462_HUMAN	H	402	ENSP00000364526:R402H	ENSP00000364526:R402H	R	-	2	0	KIAA1462	30357878	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.251000	0.09542	0.561000	0.74099	CGC		0.587	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		121	544	0	0	0	1	0	121	544					T	30317872	C	T	30317872	3	4	79	1	0	0	0	0	1	0	0	0	8264	768	27	1	2882	1	KIAA1462	10	30317872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	30317872	105216875	10912	21229											
MTPAP	55149	broad.mit.edu	37	chr10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataaaggagttcggaacttGtcaaggcaatccttcaaaaa	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000263063.4	-	6	1047	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	335					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1393-1395)aCa>aTa		mitochondrial poly(A) polymerase							40	40	40					10																	30611535		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30611535G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1004C>T	10.37:g.30611535G>A	ENSP00000263063:p.Thr335Ile					MTPAP_ENST00000263063.3_Missense_Mutation_p.T335I|MTPAP_ENST00000488290.1_5'UTR	p.T465I			Q9NVV4	PAPD1_HUMAN			7	1393	-			335			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1394C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799941	0.31869	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.40225	1.04;1.04	5.66	3.33	0.38152	.	0.249755	0.45867	D	0.000323	T	0.19248	0.0462	N	0.08118	0	0.29088	N	0.882245	P;B	0.45011	0.848;0.004	B;B	0.41646	0.362;0.002	T	0.05616	-1.0874	10	0.23891	T	0.37	-24.4344	4.2878	0.10863	0.0:0.2656:0.1765:0.5579	.	465;335	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	465;335	ENSP00000350820:T465I;ENSP00000263063:T335I	ENSP00000263063:T335I	T	-	2	0	MTPAP	30651541	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.778000	0.26732	0.509000	0.28195	-0.493000	0.04662	ACA		0.373	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		35	119	0	0	0	1	0	35	119					A	30611535	G	A	30611535	3	1	79	1	0	0	0	0	1	0	0	0	9997	1377	48	2	760	2	MTPAP	10	30611535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293663	30611535	104923212	10913	21230											
MTPAP	55149	broad.mit.edu	37	chr10	30615489	30615489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcactctcctaacacagAcaggatcttctgagttgcaa	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30615489A>G	ENST00000263063.4	-	5	899	c.856T>C	c.(856-858)Tct>Cct	p.S286P	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S416P	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	286					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTAACACAGACAGGATCTTC	0.423																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1246-1248)Tct>Cct		mitochondrial poly(A) polymerase							122	133	129					10																	30615489		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30615489A>G	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.856T>C	10.37:g.30615489A>G	ENSP00000263063:p.Ser286Pro					MTPAP_ENST00000263063.3_Missense_Mutation_p.S286P|MTPAP_ENST00000488290.1_5'UTR	p.S416P			Q9NVV4	PAPD1_HUMAN			6	1245	-			286					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1246T>C	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828915	0.90955	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.84846	2.72	0.58432	D	0.999999	D;P	0.89917	1.0;0.835	D;P	0.72338	0.977;0.616	T	0.70008	-0.4990	10	0.39692	T	0.17	-23.4236	15.3308	0.74208	1.0:0.0:0.0:0.0	.	416;286	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	P	416;286	ENSP00000350820:S416P;ENSP00000263063:S286P	ENSP00000263063:S286P	S	-	1	0	MTPAP	30655495	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.004000	0.70709	2.083000	0.62718	0.383000	0.25322	TCT		0.423	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		12	839	0	0	0	1	0	12	839					G	30615489	A	G	30615489	3	3	79	1	0	0	0	0	1	0	0	0	9997	275	10	4	912	4	MTPAP	10	30615489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3954	30615489	104919258	10914	21231											
MTPAP	55149	broad.mit.edu	37	chr10	30629378	30629378	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctacgacagcatagagaCcctataccaaaaacataaga	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000263063.4	-	3	375	c.332G>A	c.(331-333)gGt>gAt	p.G111D	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Splice_Site_p.G241D	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	111					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e4-1		mitochondrial poly(A) polymerase																																				SO:0001630	splice_region_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30629378C>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.331-1G>A	10.37:g.30629378C>T						MTPAP_ENST00000263063.3_Splice_Site_p.G111_splice|MTPAP_ENST00000488290.1_5'UTR	p.G241_splice			Q9NVV4	PAPD1_HUMAN			4	721	-			111					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Splice_Site	SNP	ENST00000263063.4	37	c.720_splice	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440161	0.83993	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.952	T	0.47209	-0.9135	10	0.16420	T	0.52	-19.6079	18.5135	0.90926	0.0:1.0:0.0:0.0	.	73;241;111	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	D	241;111;46;73	ENSP00000350820:G241D;ENSP00000263063:G111D;ENSP00000404392:G46D;ENSP00000394118:G73D	ENSP00000263063:G111D	G	-	2	0	MTPAP	30669384	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.292000	0.72725	2.431000	0.82371	0.591000	0.81541	GGT		0.353	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	Missense_Mutation	60	312	0	0	0	1	0	60	312					T	30629378	C	T	30629378	5	4	79	1	0	0	0	0	0	0	1	0	9997	521	18	2	1444	2	MTPAP	10	30629378	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13889	30629378	104905369	10915	21232											
MAP3K8	1326	broad.mit.edu	37	chr10	30747153	30747153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgctcagcctatccctcCtacctgtacatagtaagtgg	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1014)tcC>tcT		mitogen-activated protein kinase kinase kinase 8							40	37	38					10																	30747153		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30747153C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1014C>T	10.37:g.30747153C>T						MAP3K8_ENST00000542547.1_Silent_p.S338S|MAP3K8_ENST00000375321.1_Silent_p.S338S	p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			7	1710	+		Prostate(175;0.151)	338			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.1014C>T	CCDS7166.1																																																																																				0.632	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		19	206	0	0	0	1	0	19	206					T	30747153	C	T	30747153	2	4	79	1	0	0	0	0	0	0	0	1	9297	668	24	2		2	MAP3K8	10	30747153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117775	30747153	104787594	10916	21233											
ZNF438	220929	broad.mit.edu	37	chr10	31138175	31138175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcatctggtaccttccGttttcttccttttctctttg	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000361310.3	-	6	1488	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000375311.1_De_novo_Start_OutOfFrame|ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	387					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTACCTTCCGTTTTCTTCCT	0.388																																						ENST00000375311.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35								zinc finger protein 438							110	105	107					10																	31138175		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138175G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1159C>T	10.37:g.31138175G>A	ENSP00000354663:p.Arg387Trp					ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000538351.1_Missense_Mutation_p.R338W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000361310.3_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W				Q7Z4V0	ZN438_HUMAN			0	664	-		Prostate(175;0.0587)						A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Translation_Start_Site	SNP	ENST00000361310.3	37		CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517255	0.13005	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	1.75	0.24633	.	0.248451	0.45867	N	0.000325	T	0.07188	0.0182	L	0.34521	1.04	0.37336	D	0.910175	P;P	0.41710	0.647;0.76	B;B	0.32533	0.07;0.147	T	0.37865	-0.9687	10	0.42905	T	0.14	-7.1085	4.2712	0.10787	0.2313:0.0:0.3906:0.3781	.	387;377	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	377;387;387;387;387;377;377;338;106	ENSP00000333571:R377W;ENSP00000354663:R387W;ENSP00000406934:R387W;ENSP00000412363:R387W;ENSP00000387546:R387W;ENSP00000413060:R377W;ENSP00000410898:R377W;ENSP00000445461:R338W	ENSP00000333571:R377W	R	-	1	2	ZNF438	31178181	0.985000	0.35326	0.003000	0.11579	0.048000	0.14542	2.098000	0.41757	0.063000	0.16370	-0.133000	0.14855	CGG		0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		119	509	0	0	0	1	0	119	509					A	31138175	G	A	31138175	3	1	79	1	0	0	0	0	1	0	0	0	17963	1144	40	1	1335	1	ZNF438	10	31138175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391022	31138175	104396572	10917	21234											
ZEB1	6935	broad.mit.edu	37	chr10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcacagtaaatctacaAagtcctttgaagatgactaa	7	8	1	3	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000320985.10	+	7	2144	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	678					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1984-1986)caA>caC		zinc finger E-box binding homeobox 1		A	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	0,4406		0,0,2203	74	66	69		1986,1974,1983,1833,2037,2034	-6	0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	24,24,24,24,24,24	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	662/1109,658/1105,661/1108,611/1058,679/1126,678/1125	31810297	1,13005	2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810297A>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2034A>C	10.37:g.31810297A>C	ENSP00000319248:p.Gln678His					ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q678H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR	p.Q662H	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2377	+		Prostate(175;0.0156)	678					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1986A>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	4.696	0.129452	0.08981	0.0	1.16E-4	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.97;2.66;2.71;2.66;2.71	5.34	-6.03	0.02185	.	1.439760	0.04244	N	0.337441	T	0.18923	0.0454	L	0.51422	1.61	0.24957	N	0.991758	P;P;P;P;P;P;P;P	0.44478	0.836;0.755;0.761;0.761;0.641;0.748;0.761;0.761	P;P;B;B;B;B;B;B	0.47102	0.537;0.465;0.275;0.275;0.275;0.308;0.275;0.275	T	0.45131	-0.9282	10	0.62326	D	0.03	-3.8958	12.1316	0.53946	0.7633:0.0:0.1351:0.1016	.	611;678;662;678;678;658;679;678	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	460;678;679;678;611;678;658;537;569;662	ENSP00000444282:Q460H;ENSP00000354487:Q679H;ENSP00000444891:Q611H;ENSP00000319248:Q678H;ENSP00000391612:Q662H	ENSP00000319248:Q678H	Q	+	3	2	ZEB1	31850303	0.000000	0.05858	0.009000	0.14445	0.215000	0.24574	-1.025000	0.03600	-1.292000	0.02366	-0.242000	0.12053	CAA		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		60	265	0	0	0	1	0	60	265					C	31810297	A	C	31810297	3	2	79	1	0	0	0	0	1	0	0	0	17676	11	1	4	2074	4	ZEB1	10	31810297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	672122	31810297	103724450	10918	21235											
ZEB1	6935	broad.mit.edu	37	chr10	31815766	31815766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacatgaatcatcgctaCtcctactgtaagagagaagc	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000320985.10	+	9	3059	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000446923.2_Silent_p.Y967Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	983					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2899-2901)taC>taT		zinc finger E-box binding homeobox 1							102	85	91					10																	31815766		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815766C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2949C>T	10.37:g.31815766C>T						ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000320985.10_Silent_p.Y983Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y	p.Y967Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3292	+		Prostate(175;0.0156)	983					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.2901C>T	CCDS7169.1																																																																																				0.498	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		62	220	0	0	0	1	0	62	220					T	31815766	C	T	31815766	2	4	79	1	0	0	0	0	0	0	0	1	17676	576	20	2		2	ZEB1	10	31815766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5469	31815766	103718981	10919	21236											
ARHGAP12	94134	broad.mit.edu	37	chr10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtactgtgccattctctctCtgacacagattagcgagatt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000344936.2	-	16	2223	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q633H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1897-1899)caG>caT		Rho GTPase activating protein 12							122	122	122					10																	32099638		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32099638C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1989G>T	10.37:g.32099638C>A	ENSP00000345808:p.Gln663His					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000492028.1_5'UTR	p.Q633H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			14	2140	-		Prostate(175;0.0199)	663					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1899G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832659	0.32421	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.55	3.68	0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.054607	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31926	0.97	0.53688	D	0.999977	B;B;B;B;B	0.31752	0.124;0.095;0.228;0.228;0.338	B;B;B;B;B	0.30029	0.052;0.056;0.051;0.051;0.11	T	0.12760	-1.0535	10	0.87932	D	0	.	10.4217	0.44354	0.0:0.7548:0.0:0.2452	.	616;633;658;663;611	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	H	611;633;663;658;611	ENSP00000310984:Q611H;ENSP00000364399:Q633H;ENSP00000345808:Q663H;ENSP00000379448:Q658H;ENSP00000364394:Q611H	ENSP00000310984:Q611H	Q	-	3	2	ARHGAP12	32139644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.987000	0.29603	0.724000	0.32296	-1.151000	0.01829	CAG		0.323	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			45	296	1	0	1.17673e-23	1	1.33956e-23	45	296					A	32099638	C	A	32099638	3	1	79	1	0	0	0	0	1	0	0	0	865	912	32	3	571	3	ARHGAP12	10	32099638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283872	32099638	103435109	10920	21237											
KIF5B	3799	broad.mit.edu	37	chr10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcagctcagcttgcataTtgtcttgatcccttctggta	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	469					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCTTGCATATTGTCTTGATC	0.373			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1405-1407)aAt>aGt		kinesin family member 5B							95	88	91					10																	32320176		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32320176T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1406A>G	10.37:g.32320176T>C	ENSP00000307078:p.Asn469Ser						p.N469S	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			14	1863	-		Prostate(175;0.0137)	469					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1406A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862708	0.32884	.	.	ENSG00000170759	ENST00000302418	D	0.84660	-1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.38175	1.15	0.37600	D	0.920517	B	0.12013	0.005	B	0.12156	0.007	T	0.75792	-0.3193	10	0.19590	T	0.45	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	469	P33176	KINH_HUMAN	S	469	ENSP00000307078:N469S	ENSP00000307078:N469S	N	-	2	0	KIF5B	32360182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.371000	0.80710	0.533000	0.62120	AAT		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		35	199	0	0	0	1	0	35	199					C	32320176	T	C	32320176	3	2	79	1	0	0	0	0	1	0	0	0	8336	1493	52	4	1533	4	KIF5B	10	32320176	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220538	32320176	103214571	10921	21238											
EPC1	80314	broad.mit.edu	37	chr10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accttggaactgaatctacaGaggatgaagatgggaccttg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000263062.8	-	14	2689	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y|EPC1_ENST00000319778.6_Missense_Mutation_p.S784Y|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	807					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2350-2352)tCt>tAt		enhancer of polycomb homolog 1 (Drosophila)							117	113	114					10																	32560500		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560500G>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2420C>A	10.37:g.32560500G>T	ENSP00000263062:p.Ser807Tyr					EPC1_ENST00000263062.8_Missense_Mutation_p.S807Y|EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y	p.S784Y	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			13	2653	-		Prostate(175;0.0199)	807					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.2351C>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277662	0.59758	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.79	4.79	0.61399	.	0.370006	0.31290	N	0.007906	T	0.61714	0.2369	L	0.40543	1.245	0.33429	D	0.580917	D;D;P	0.61080	0.987;0.989;0.956	P;P;P	0.58391	0.838;0.655;0.828	T	0.73445	-0.3980	9	0.87932	D	0	-2.4986	17.8998	0.88900	0.0:0.0:1.0:0.0	.	734;784;807	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	Y	734;784;807	.	ENSP00000263062:S807Y	S	-	2	0	EPC1	32600506	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	6.040000	0.70980	2.214000	0.71695	0.299000	0.19835	TCT		0.428	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			144	649	1	0	2.39625e-65	1	3.03e-65	144	649					T	32560500	G	T	32560500	3	4	79	1	0	0	0	0	1	0	0	0	5178	942	33	3	98	3	EPC1	10	32560500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	240324	32560500	102974247	10922	21239											
EPC1	80314	broad.mit.edu	37	chr10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagtcctaggtatatgtcGtgcatttattggggcaatag	11	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000263062.8	-	14	2592	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*|EPC1_ENST00000319778.6_Nonsense_Mutation_p.R752*|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	775					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2254-2256)Cga>Tga		enhancer of polycomb homolog 1 (Drosophila)							216	197	204					10																	32560597		2203	4300	6503	SO:0001587	stop_gained	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560597G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2323C>T	10.37:g.32560597G>A	ENSP00000263062:p.Arg775*					EPC1_ENST00000263062.8_Nonsense_Mutation_p.R775*|EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*	p.R752*	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			13	2556	-		Prostate(175;0.0199)	775					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Nonsense_Mutation	SNP	ENST00000263062.8	37	c.2254C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	42	9.302857	0.99130	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	5.24	0.73138	.	0.247523	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.3252	18.8808	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	702;752;775	.	ENSP00000263062:R775X	R	-	1	2	EPC1	32600603	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.245000	0.72398	2.442000	0.82660	0.306000	0.20318	CGA		0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			172	818	0	0	0	1	0	172	818					A	32560597	G	A	32560597	4	1	79	1	0	0	0	0	0	1	0	0	5178	1153	40	1	195	1	EPC1	10	32560597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	32560597	102974150	10923	21240											
EPC1	80314	broad.mit.edu	37	chr10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgaaacgacagtttacTcatctcaggcgcagcagata	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000263062.8	-	1	273	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	RP11-135A24.2_ENST00000417447.1_RNA|EPC1_ENST00000375110.2_Intron|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S2G|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000480402.1_5'UTR	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	2					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(4-6)Agt>Ggt		enhancer of polycomb homolog 1 (Drosophila)							38	41	40					10																	32635840		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32635840T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.4A>G	10.37:g.32635840T>C	ENSP00000263062:p.Ser2Gly					EPC1_ENST00000263062.8_Missense_Mutation_p.S2G|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000480402.1_5'UTR|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000375110.2_Intron	p.S2G	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			1	306	-		Prostate(175;0.0199)	2					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.4A>G	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967458	0.92855	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	.	.	.	4.7	4.7	0.59300	.	0.087777	0.85682	D	0.000000	T	0.76414	0.3984	M	0.66939	2.045	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.907	T	0.79412	-0.1814	9	0.87932	D	0	-8.3521	13.3215	0.60436	0.0:0.0:0.0:1.0	.	2;2	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	G	2	.	ENSP00000263062:S2G	S	-	1	0	EPC1	32675846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.945000	0.75947	1.739000	0.51704	0.418000	0.28097	AGT		0.642	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			61	240	0	0	0	1	0	61	240					C	32635840	T	C	32635840	3	2	79	1	0	0	0	0	1	0	0	0	5178	1551	54	4	2566	4	EPC1	10	32635840	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75243	32635840	102898907	10924	21241											
C10orf68	79741	broad.mit.edu	37	chr10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaatcttatacttaGgcatcaagactcaatgtcaa	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M			Q9H943	CJ068_HUMAN		64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(214-216)aGg>aTg		chromosome 10 open reading frame 68							58	61	60					10																	32978017		2203	4296	6499	SO:0001583	missense	79741							g.chr10:32978017G>T																												ENST00000375030.2:c.215G>T	10.37:g.32978017G>T	ENSP00000364170:p.Arg72Met					C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M	p.R72M			Q9H943	CJ068_HUMAN			8	833	+			64					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.215G>T		.	.	.	.	.	.	.	.	.	.	.	10.87	1.471352	0.26423	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33865	1.43;1.39;1.7;1.41	3.42	-0.376	0.12505	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B;B;P	0.35411	0.282;0.282;0.5	B;B;B	0.34931	0.126;0.126;0.192	T	0.17410	-1.0370	9	0.54805	T	0.06	.	3.1615	0.06522	0.5187:0.2197:0.2616:0.0	.	64;78;72	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	M	64;72;78;64;50	ENSP00000303710:R64M;ENSP00000364170:R72M;ENSP00000364168:R78M;ENSP00000364165:R64M	ENSP00000303710:R64M	R	+	2	0	C10orf68	33018023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.508000	0.06344	-0.078000	0.12730	-0.350000	0.07774	AGG		0.299	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			33	142	1	0	5.8336e-16	1	6.39204e-16	33	142					T	32978017	G	T	32978017	3	4	79	1	0	0	0	0	1	0	0	0	1618	1000	35	3	201	3	C10orf68	10	32978017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342177	32978017	102556730	10925	21242											
C10orf68	79741	broad.mit.edu	37	chr10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatcttgtgcttgaacatCaagattcagtgtcaaaactg	7	7	4	2	rs556688742		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN		103										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCTTGAACATCAAGATTCAGT	0.318																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(331-333)Caa>Taa		chromosome 10 open reading frame 68							46	45	45					10																	32983848		2201	4298	6499	SO:0001587	stop_gained	79741							g.chr10:32983848C>T																												ENST00000375030.2:c.331C>T	10.37:g.32983848C>T	ENSP00000364170:p.Gln111*					C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron	p.Q111*			Q9H943	CJ068_HUMAN			9	949	+			103					B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375030.2	37	c.331C>T		.	.	.	.	.	.	.	.	.	.	.	21.5	4.154936	0.78114	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	.	.	.	2.91	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0702	0.14602	0.4208:0.3728:0.2064:0.0	.	.	.	.	X	103;111;103	.	ENSP00000303710:Q103X	Q	+	1	0	C10orf68	33023854	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.956000	0.29202	-0.100000	0.12241	0.467000	0.42956	CAA		0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			24	107	0	0	0	1	0	24	107					T	32983848	C	T	32983848	4	4	79	1	0	0	0	0	0	1	0	0	1618	827	29	2	321	2	C10orf68	10	32983848	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5831	32983848	102550899	10926	21243											
C10orf68	79741	broad.mit.edu	37	chr10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatagagactgatgaaCgattgcatagtacaactgag	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375028.3	+	11	1004	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		336										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284																																						ENST00000375028.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(934-936)Cga>Tga		chromosome 10 open reading frame 68							89	94	92					10																	33113457		2203	4295	6498	SO:0001587	stop_gained	79741							g.chr10:33113457C>T																												ENST00000375028.3:c.934C>T	10.37:g.33113457C>T	ENSP00000364168:p.Arg312*					C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron	p.R312*			Q9H943	CJ068_HUMAN			11	1004	+			336					B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375028.3	37	c.934C>T		.	.	.	.	.	.	.	.	.	.	.	16.79	3.219350	0.58560	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.06	0.0262	0.14149	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3043	0.06994	0.0:0.5489:0.2756:0.1754	.	.	.	.	X	336;312;372;284	.	ENSP00000303710:R336X	R	+	1	2	C10orf68	33153463	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.988000	0.01482	0.021000	0.15133	0.305000	0.20034	CGA		0.284	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			52	240	0	0	0	1	0	52	240					T	33113457	C	T	33113457	4	4	79	1	0	0	0	0	0	1	0	0	1618	528	19	1	1048	1	C10orf68	10	33113457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129609	33113457	102421290	10927	21244											
C10orf68	79741	broad.mit.edu	37	chr10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttaattctatagagaCtgataaagaactcttaaaag	6	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I			Q9H943	CJ068_HUMAN		446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCTATAGAGACTGATAAAGAA	0.289																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1213-1215)aCt>aTt		chromosome 10 open reading frame 68							37	41	40					10																	33135307		2195	4270	6465	SO:0001583	missense	79741							g.chr10:33135307C>T																												ENST00000375030.2:c.1214C>T	10.37:g.33135307C>T	ENSP00000364170:p.Thr405Ile					C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I	p.T405I			Q9H943	CJ068_HUMAN			18	1832	+			446					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1214C>T		.	.	.	.	.	.	.	.	.	.	.	8.117	0.780115	0.16120	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.7;1.59;1.59	2.21	1.27	0.21489	.	.	.	.	.	T	0.44993	0.1320	M	0.62723	1.935	0.09310	N	1	B;B;B;D	0.65815	0.042;0.015;0.137;0.995	B;B;B;D	0.66351	0.019;0.019;0.031;0.943	T	0.17592	-1.0364	9	0.56958	D	0.05	.	6.0096	0.19567	0.307:0.693:0.0:0.0	.	427;446;450;405	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	446;405;450;510;422	ENSP00000303710:T446I;ENSP00000364170:T405I;ENSP00000364168:T450I;ENSP00000364165:T510I	ENSP00000303710:T446I	T	+	2	0	C10orf68	33175313	0.000000	0.05858	0.060000	0.19600	0.272000	0.26649	-0.030000	0.12308	0.466000	0.27193	0.453000	0.30009	ACT		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			30	177	0	0	0	1	0	30	177					T	33135307	C	T	33135307	3	4	79	1	0	0	0	0	1	0	0	0	1618	565	20	2	1395	2	C10orf68	10	33135307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21850	33135307	102399440	10928	21245											
NRP1	8829	broad.mit.edu	37	chr10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaacaccttgttctctcGgtgcttcccaccctgaatga	7	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1516-1518)Cga>Tga		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						230	195	207					10																	33502412		2203	4300	6503	SO:0001587	stop_gained	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502412G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1516C>T	10.37:g.33502412G>A	ENSP00000265371:p.Arg506*					NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*	p.R506*			O14786	NRP1_HUMAN			10	2041	-			506			F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	37	c.1516C>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.591483	0.99433	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.95	2.72	0.32119	.	0.106857	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.8145	15.4444	0.75216	0.0:0.0:0.368:0.632	.	.	.	.	X	506;325;506;506;506;506;506;506;179	.	ENSP00000265371:R506X	R	-	1	2	NRP1	33542418	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.187000	0.42602	0.688000	0.31529	0.655000	0.94253	CGA		0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			165	730	0	0	0	1	0	165	730					A	33502412	G	A	33502412	4	1	79	1	0	0	0	0	0	1	0	0	10702	1124	39	1	1302	1	NRP1	10	33502412	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367105	33502412	102032335	10929	21246											
PARD3	56288	broad.mit.edu	37	chr10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagtctgttcagcctcGcaacctgagaaggggagggg	15	9	3	2	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCAGCCTCGCAACCTGAGA	0.542																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4018-4020)gCg>gTg		par-3 family cell polarity regulator							46	51	49					10																	34400149		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400149G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4019C>T	10.37:g.34400149G>A	ENSP00000363921:p.Ala1340Val					PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V	p.A1340V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			25	4344	-		Breast(68;0.0707)	1340					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.4019C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696904	0.48202	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17213	2.42;2.32;2.43;2.44;2.35;2.32;2.29;2.38	6.17	6.17	0.99709	.	0.151617	0.64402	D	0.000014	T	0.31796	0.0808	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.535;1.0;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D	0.85130	0.997;0.049;0.997;0.997;0.997;0.997;0.997;0.994	T	0.01266	-1.1401	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324V;ENSP00000440857:A1250V;ENSP00000363921:A1340V;ENSP00000363920:A1337V;ENSP00000340591:A1303V;ENSP00000363926:A1228V;ENSP00000311986:A1294V;ENSP00000363922:A1280V	ENSP00000340591:A1303V	A	-	2	0	PARD3	34440155	1.000000	0.71417	0.370000	0.25965	0.918000	0.54935	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCG		0.542	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		72	297	0	0	0	1	0	72	297					A	34400149	G	A	34400149	3	1	79	1	0	0	0	0	1	0	0	0	11485	1087	38	1	55	1	PARD3	10	34400149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	897737	34400149	101134598	10930	21247											
PARD3	56288	broad.mit.edu	37	chr10	34649102	34649102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgacaccaaggcctgcaGatcctgaatcattaagtggg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34649102G>T	ENST00000374789.3	-	13	2118	c.1793C>A	c.(1792-1794)tCt>tAt	p.S598Y	PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	598	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGGCCTGCAGATCCTGAATC	0.428																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1792-1794)tCt>tAt		par-3 family cell polarity regulator							141	128	132					10																	34649102		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34649102G>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1793C>A	10.37:g.34649102G>T	ENSP00000363921:p.Ser598Tyr					PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y	p.S598Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			13	2118	-		Breast(68;0.0707)	598			PDZ 3.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1793C>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632542	0.87660	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.93;1.0;1.0;0.994;1.0;1.0;0.991	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.97110	0.999;0.991;0.998;0.999;0.998;0.999;0.999;0.99;0.677;0.999;1.0;0.981;0.993;1.0;0.957	T	0.48502	-0.9030	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	541;541;585;585;585;598;598;598;541;585;598;598;585;598;315	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	Y	585;541;598;598;598;541;585;541;585;598;598;315;36	ENSP00000443147:S585Y;ENSP00000440857:S541Y;ENSP00000363921:S598Y;ENSP00000363920:S598Y;ENSP00000340591:S598Y;ENSP00000363926:S541Y;ENSP00000311986:S585Y;ENSP00000363922:S541Y;ENSP00000363908:S585Y;ENSP00000341844:S598Y;ENSP00000363905:S598Y;ENSP00000444429:S315Y;ENSP00000363900:S36Y	ENSP00000341844:S598Y	S	-	2	0	PARD3	34689108	1.000000	0.71417	0.982000	0.44146	0.601000	0.36947	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	TCT		0.428	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	524	1	0	1.12685e-05	1	1.15515e-05	9	524					T	34649102	G	T	34649102	3	4	79	1	0	0	0	0	1	0	0	0	11485	942	33	3	2364	3	PARD3	10	34649102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248953	34649102	100885645	10931	21248											
PARD3	56288	broad.mit.edu	37	chr10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-													gatattaagcctcttgcctaTttttttggtgttataaccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)atafs	p.I456fs	PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTGCCTATTTTTTTGGTG	0.433																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1366-1368)tafs		par-3 family cell polarity regulator							119	117	118					10																	34671501		2203	4300	6503	SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671501delT	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1366delA	10.37:g.34671501delT	ENSP00000363921:p.Ile456fs					PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs	p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1691	-		Breast(68;0.0707)	456					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1366delA	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		8	729						8	729	---	---	---	---	-	34671501	T	-	34671501	7	5	79	1	0	1	0	1	0	0	0	0	11485	1493	52	0	2807	0	PARD3	10	34671501	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	22399	34671501	100863246	10932	21249											
PARD3	56288	broad.mit.edu	37	chr10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaagaatgtcatcaaggtCtagtattcctccatctccat	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(178-180)Gac>Aac		par-3 family cell polarity regulator							334	282	300					10																	34985290		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985290C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.178G>A	10.37:g.34985290C>T	ENSP00000363921:p.Asp60Asn					PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N	p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	503	-		Breast(68;0.0707)	60					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.178G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732192	0.89482	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.66	4.76	0.60689	.	0.102022	0.64402	D	0.000004	T	0.80660	0.4665	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.892;0.996;0.998;0.996;0.999;0.999;0.997;0.999;0.999;0.994	D	0.84184	0.0441	10	0.87932	D	0	.	15.5948	0.76569	0.0:0.8615:0.1384:0.0	.	60;60;60;60;60;60;60;60;60;60;60	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	60	ENSP00000443147:D60N;ENSP00000440857:D60N;ENSP00000363921:D60N;ENSP00000363920:D60N;ENSP00000340591:D60N;ENSP00000363926:D60N;ENSP00000311986:D60N;ENSP00000363922:D60N;ENSP00000363908:D60N;ENSP00000341844:D60N;ENSP00000363905:D60N	ENSP00000341844:D60N	D	-	1	0	PARD3	35025296	1.000000	0.71417	0.172000	0.22920	0.872000	0.50106	7.336000	0.79245	1.377000	0.46286	0.650000	0.86243	GAC		0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		154	822	0	0	0	1	0	154	822					T	34985290	C	T	34985290	3	4	79	1	0	0	0	0	1	0	0	0	11485	913	32	2	4023	2	PARD3	10	34985290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313789	34985290	100549457	10933	21250											
CCNY	219771	broad.mit.edu	37	chr10	35841947	35841947	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgtcttgtcttcccagGtgtaccttgaaagactttta	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140M	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	194	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.e8-1		cyclin Y							103	105	105					10																	35841947		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35841947G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.580-1G>A	10.37:g.35841947G>A						CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140_splice|CCNY_ENST00000339497.5_Splice_Site_p.V169_splice|CCNY_ENST00000374706.1_Splice_Site_p.V140_splice	p.V194_splice	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	760	+			194			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37	c.579_splice	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242475	0.95272	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.052937	0.85682	D	0.000000	D	0.95937	0.8677	M	0.92784	3.345	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.72338	0.966;0.962;0.977	D	0.96513	0.9380	9	.	.	.	-0.383	19.3632	0.94451	0.0:0.0:1.0:0.0	.	61;169;194	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	M	140;194;194;169;140;61	ENSP00000363838:V140M;ENSP00000363836:V194M;ENSP00000344275:V169M;ENSP00000265375:V140M	.	V	+	1	0	CCNY	35881953	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GTG		0.438	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Missense_Mutation	81	337	0	0	0	1	0	81	337					A	35841947	G	A	35841947	5	1	79	1	0	0	0	0	0	0	1	0	2945	1275	44	2	610	2	CCNY	10	35841947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856657	35841947	99692800	10934	21251											
CCNY	219771	broad.mit.edu	37	chr10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggccaactggaagcggaTtgttttaggggcgatcctgc	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	215	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(643-645)aTt>aCt		cyclin Y							132	132	132					10																	35842011		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35842011T>C	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.644T>C	10.37:g.35842011T>C	ENSP00000363836:p.Ile215Thr					CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T	p.I215T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	824	+			215			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.644T>C	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797952	0.70567	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.046078	0.85682	D	0.000000	T	0.44414	0.1292	M	0.91972	3.26	0.80722	D	1	D;P;P	0.52996	0.957;0.837;0.866	P;P;P	0.62298	0.9;0.71;0.665	T	0.56414	-0.7983	10	0.87932	D	0	0.0576	15.5752	0.76373	0.0:0.0:0.0:1.0	.	82;190;215	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	161;215;215;190;161;82	ENSP00000363838:I161T;ENSP00000363836:I215T;ENSP00000344275:I190T;ENSP00000265375:I161T	ENSP00000265375:I161T	I	+	2	0	CCNY	35882017	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	7.965000	0.87945	2.142000	0.66516	0.533000	0.62120	ATT		0.493	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		105	406	0	0	0	1	0	105	406					C	35842011	T	C	35842011	3	2	79	1	0	0	0	0	1	0	0	0	2945	1493	52	4	674	4	CCNY	10	35842011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	35842011	99692736	10935	21252											
GJD4	219770	broad.mit.edu	37	chr10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgtcctgcaccgaggaGccacgctcgccgcgctgggc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	101					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(301-303)Gcc>Acc		gap junction protein, delta 4, 40.1kDa							50	43	45					10																	35896742		2203	4300	6503	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35896742G>A	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.301G>A	10.37:g.35896742G>A	ENSP00000315070:p.Ala101Thr						p.A101T	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	459	+			101					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.301G>A	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594813	0.46318	.	.	ENSG00000177291	ENST00000321660	D	0.97752	-4.52	6.11	-0.15	0.13416	.	0.885835	0.10230	N	0.699820	D	0.94522	0.8236	L	0.60067	1.865	0.09310	N	1	B	0.32324	0.364	B	0.27170	0.077	D	0.87133	0.2198	10	0.34782	T	0.22	.	4.7058	0.12849	0.2524:0.0:0.5118:0.2359	.	101	Q96KN9	CXD4_HUMAN	T	101	ENSP00000315070:A101T	ENSP00000315070:A101T	A	+	1	0	GJD4	35936748	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.566000	0.36396	-0.280000	0.09154	0.655000	0.94253	GCC		0.746	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		66	283	0	0	0	1	0	66	283					A	35896742	G	A	35896742	3	1	79	1	0	0	0	0	1	0	0	0	6448	971	34	2	307	2	GJD4	10	35896742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54731	35896742	99638005	10936	21253											
GJD4	219770	broad.mit.edu	37	chr10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgtgtcgcggcccacagaGaagtccctgctgatgctgtt	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	193					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(577-579)gaG>gaT		gap junction protein, delta 4, 40.1kDa							30	22	25					10																	35897020		2203	4299	6502	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35897020G>T	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.579G>T	10.37:g.35897020G>T	ENSP00000315070:p.Glu193Asp						p.E193D	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	737	+			193					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.579G>T	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870359	0.72065	.	.	ENSG00000177291	ENST00000321660	D	0.99186	-5.53	5.62	0.847	0.18961	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.96365	3.81	0.47584	D	0.999468	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	.	10.5625	0.45154	0.3987:0.0:0.6013:0.0	.	193	Q96KN9	CXD4_HUMAN	D	193	ENSP00000315070:E193D	ENSP00000315070:E193D	E	+	3	2	GJD4	35937026	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	1.855000	0.39378	0.056000	0.16144	-0.469000	0.05056	GAG		0.647	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		16	135	1	0	3.32936e-07	1	3.45006e-07	16	135					T	35897020	G	T	35897020	3	4	79	1	0	0	0	0	1	0	0	0	6448	933	33	3	585	3	GJD4	10	35897020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	35897020	99637727	10937	21254											
FZD8	8325	broad.mit.edu	37	chr10	35929026	35929026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgggcacaagccacgcGgccaggtggaagtactgcga	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	444					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CAAGCCACGCGGCCAGGTGGA	0.657																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1330-1332)gcC>gcT		frizzled family receptor 8							32	31	31					10																	35929026		2202	4300	6502	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929026G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1332C>T	10.37:g.35929026G>A							p.A444A	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1336	-			444						Silent	SNP	ENST00000374694.1	37	c.1332C>T	CCDS7192.1																																																																																				0.657	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		7	141	0	0	0	1	0	7	141					A	35929026	G	A	35929026	2	1	79	1	0	0	0	0	0	0	0	1	6163	1103	39	1		1	FZD8	10	35929026	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32006	35929026	99605721	10938	21255											
FZD8	8325	broad.mit.edu	37	chr10	35929686	35929686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctcgcagggagccgcGccgccgccagggggccgcgc	19	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	224					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(670-672)ggC>ggT		frizzled family receptor 8							5	6	5					10																	35929686		1617	3437	5054	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929686G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.672C>T	10.37:g.35929686G>A							p.G224G	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	676	-			224						Silent	SNP	ENST00000374694.1	37	c.672C>T	CCDS7192.1																																																																																				0.806	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		11	85	0	0	0	1	0	11	85					A	35929686	G	A	35929686	2	1	79	1	0	0	0	0	0	0	0	1	6163	1074	38	1		1	FZD8	10	35929686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	35929686	99605061	10939	21256											
ANKRD30A	91074	broad.mit.edu	37	chr10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagaatccaaacaaaaggActatgaagaaaattcttggg	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000602533.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAAAGGACTATGAAGAA	0.299																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1510-1512)gAc>gGc		ankyrin repeat domain 30A							122	110	114					10																	37441021		1798	4065	5863	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37441021A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1511A>G	10.37:g.37441021A>G	ENSP00000473551:p.Asp504Gly					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G	p.D504G			Q9BXX3	AN30A_HUMAN			12	1610	+			560					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1511A>G		.	.	.	.	.	.	.	.	.	.	.	11.34	1.611090	0.28712	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.71	1.71	0.24356	.	.	.	.	.	T	0.13586	0.0329	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.15636	-1.0430	9	0.49607	T	0.09	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	560	Q9BXX3	AN30A_HUMAN	G	504	ENSP00000354432:D504G;ENSP00000363792:D504G	ENSP00000354432:D504G	D	+	2	0	ANKRD30A	37481027	0.097000	0.21791	0.130000	0.21974	0.004000	0.04260	0.505000	0.22642	1.038000	0.40049	0.315000	0.21342	GAC		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		41	193	0	0	0	1	0	41	193					G	37441021	A	G	37441021	3	3	79	1	0	0	0	0	1	0	0	0	658	275	10	4	1557	4	ANKRD30A	10	37441021	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511335	37441021	98093726	10940	21257											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486234	37486234	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagaagccatctgccttCgaggtatttagttttatgat	9	9	1	2	rs562184589		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000602533.1	+	28	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_ENST00000374660.1_Silent_p.F943F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	880					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F824F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.0					ENST00000374660.1																			1	Substitution - coding silent(1)	p.F824F(1)	endometrium(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2827-2829)ttC>ttT		ankyrin repeat domain 30A							168	143	150					10																	37486234		1802	4078	5880	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486234C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2472C>T	10.37:g.37486234C>T						ANKRD30A_ENST00000602533.1_Silent_p.F824F|ANKRD30A_ENST00000361713.1_Silent_p.F824F	p.F943F			Q9BXX3	AN30A_HUMAN			34	2928	+			997					Q5W025	Silent	SNP	ENST00000602533.1	37	c.2829C>T																																																																																					0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		64	667	0	0	0	1	0	64	667					T	37486234	C	T	37486234	2	4	79	1	0	0	0	0	0	0	0	1	658	883	31	1		1	ANKRD30A	10	37486234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45213	37486234	98048513	10941	21258											
ZNF25	219749	broad.mit.edu	37	chr10	38241882	38241882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgataggtggtaaaataTtttcttacattctttacact	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38241882T>G	ENST00000302609.7	-	6	756	c.544A>C	c.(544-546)Ata>Cta	p.I182L	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGGTAAAATATTTTCTTACAT	0.353																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(544-546)Ata>Cta		zinc finger protein 25							147	152	151					10																	38241882		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241882T>G	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.544A>C	10.37:g.38241882T>G	ENSP00000302222:p.Ile182Leu					ZNF25_ENST00000374633.1_5'UTR	p.I182L	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			6	756	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	182					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.544A>C	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736628	0.30774	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.14391	2.51	4.84	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.537430	0.15831	N	0.242506	T	0.05364	0.0142	N	0.02225	-0.63	0.09310	N	0.999999	B	0.17465	0.022	B	0.14023	0.01	T	0.28299	-1.0048	10	0.87932	D	0	-8.0E-4	5.7583	0.18186	0.1691:0.0:0.1763:0.6547	.	182	P17030	ZNF25_HUMAN	L	182;146	ENSP00000302222:I182L	ENSP00000302222:I182L	I	-	1	0	ZNF25	38281888	0.001000	0.12720	0.866000	0.34008	0.960000	0.62799	-0.177000	0.09796	0.960000	0.38005	0.524000	0.50904	ATA		0.353	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		11	730	0	0	0	1	0	11	730					G	38241882	T	G	38241882	3	3	79	1	0	0	0	0	1	0	0	0	17847	1493	52	4	830	4	ZNF25	10	38241882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	755648	38241882	97292865	10942	21259											
ZNF33A	7581	broad.mit.edu	37	chr10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagactttgcagcatgagaaGattcaaactttagagcacaa	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000458705.2	+	5	788	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF33A_ENST00000374618.3_Missense_Mutation_p.K211N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	210					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(631-633)aaG>aaT		zinc finger protein 33A							84	83	84					10																	38343685		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343685G>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.630G>T	10.37:g.38343685G>T	ENSP00000387713:p.Lys210Asn					ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N	p.K211N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	811	+			210					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.633G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042204	0.35989	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.23;3.23;3.23	2.26	0.11	0.14611	.	0.000000	0.34133	N	0.004228	T	0.10078	0.0247	L	0.58810	1.83	0.09310	N	1	P;P;B	0.49635	0.86;0.926;0.051	P;P;B	0.47075	0.536;0.454;0.067	T	0.13415	-1.0510	10	0.87932	D	0	.	4.2204	0.10554	0.1641:0.4812:0.3547:0.0	.	217;210;211	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	211;217;210;210	ENSP00000363747:K211N;ENSP00000402467:K217N;ENSP00000387713:K210N;ENSP00000304268:K210N	ENSP00000304268:K210N	K	+	3	2	ZNF33A	38383691	0.000000	0.05858	0.426000	0.26672	0.225000	0.24961	0.698000	0.25571	0.219000	0.20840	0.460000	0.39030	AAG		0.358	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		63	363	1	0	4.45325e-31	1	5.23636e-31	63	363					T	38343685	G	T	38343685	3	4	79	1	0	0	0	0	1	0	0	0	17907	933	33	3	647	3	ZNF33A	10	38343685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101803	38343685	97191062	10943	21260											
ZNF33A	7581	broad.mit.edu	37	chr10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagaaaccctttgcatGtcccgaatgtgggaaattct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000458705.2	+	5	1819	c.1661G>A	c.(1660-1662)tGt>tAt	p.C554Y	ZNF33A_ENST00000374618.3_Missense_Mutation_p.C555Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	554					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1663-1665)tGt>tAt		zinc finger protein 33A							101	103	103					10																	38344716		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344716G>A	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.1661G>A	10.37:g.38344716G>A	ENSP00000387713:p.Cys554Tyr					ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y	p.C555Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1842	+			554					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1664G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624374	0.28889	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	D	0.91449	0.7301	M	0.87038	2.855	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.933	T	0.82596	-0.0379	10	0.87932	D	0	.	8.8786	0.35360	0.0:0.0:1.0:0.0	.	561;554;555	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	555;561;554;554	ENSP00000363747:C555Y;ENSP00000402467:C561Y;ENSP00000387713:C554Y;ENSP00000304268:C554Y	ENSP00000304268:C554Y	C	+	2	0	ZNF33A	38384722	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	8.253000	0.89842	0.897000	0.36392	0.305000	0.20034	TGT		0.428	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		135	505	0	0	0	1	0	135	505					A	38344716	G	A	38344716	3	1	79	1	0	0	0	0	1	0	0	0	17907	1377	48	2	1678	2	ZNF33A	10	38344716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	38344716	97190031	10944	21261											
ZNF37A	7587	broad.mit.edu	37	chr10	38403694	38403694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccagggatcagtgtcGtttagggatgtgactgtggg	15	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(25-27)tcG>tcA		zinc finger protein 37A							141	133	135					10																	38403694		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403694G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.27G>A	10.37:g.38403694G>A						ZNF37A_ENST00000361085.4_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	p.S9S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			6	857	+			9			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.27G>A	CCDS31183.1																																																																																				0.453	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		106	448	0	0	0	1	0	106	448					A	38403694	G	A	38403694	2	1	79	1	0	0	0	0	0	0	0	1	17925	1132	40	1		1	ZNF37A	10	38403694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58978	38403694	97131053	10945	21262											
ZNF37A	7587	broad.mit.edu	37	chr10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaattaattaataccagtaGaaactattcaataatgaagt	5	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308																																						ENST00000351773.3																			2	Substitution - Missense(2)	p.R86I(2)	large_intestine(2)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(256-258)aGa>aTa		zinc finger protein 37A							50	59	56					10																	38406336		2197	4281	6478	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406336G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.257G>T	10.37:g.38406336G>T	ENSP00000354377:p.Arg86Ile					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R86I	p.R86I	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1087	+			86					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.257G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	ZNF37A	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA		0.308	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		65	313	1	0	8.52622e-23	1	9.66497e-23	65	313					T	38406336	G	T	38406336	3	4	79	1	0	0	0	0	1	0	0	0	17925	942	33	3	271	3	ZNF37A	10	38406336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	38406336	97128411	10946	21263											
ZNF37A	7587	broad.mit.edu	37	chr10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtttcacagaacatctgaGaagacacacaggggagaaac	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	459					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1375-1377)aGa>aAa		zinc finger protein 37A							51	54	53					10																	38407455		2203	4298	6501	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407455G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1376G>A	10.37:g.38407455G>A	ENSP00000354377:p.Arg459Lys					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R459K	p.R459K	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2206	+			459					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1376G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954269	0.53293	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18338	2.22;2.22	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.39326	1.205	0.25192	N	0.990129	D	0.71674	0.998	D	0.68483	0.958	T	0.05818	-1.0862	9	0.45353	T	0.12	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	459	P17032	ZN37A_HUMAN	K	459	ENSP00000329141:R459K;ENSP00000354377:R459K	ENSP00000329141:R459K	R	+	2	0	ZNF37A	38447461	0.003000	0.15002	0.998000	0.56505	0.984000	0.73092	1.232000	0.32636	1.246000	0.43901	0.591000	0.81541	AGA		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		51	241	0	0	0	1	0	51	241					A	38407455	G	A	38407455	3	1	79	1	0	0	0	0	1	0	0	0	17925	942	33	2	1390	2	ZNF37A	10	38407455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	38407455	97127292	10947	21264											
ZNF33B	7582	broad.mit.edu	37	chr10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttatctcctatgtgagttCtctgatgctgtgtaagatgt	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489					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.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			1	Substitution - Missense(1)	p.R489I(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1465-1467)aGa>aTa		zinc finger protein 33B							98	92	94					10																	43088932		2203	4299	6502	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088932C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1466G>T	10.37:g.43088932C>A	ENSP00000352444:p.Arg489Ile					ZNF33B_ENST00000486187.1_RNA	p.R489I	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1580	-			489					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1466G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	ZNF33B	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA		0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		79	340	1	0	2.64105e-45	1	3.2384e-45	79	340					A	43088932	C	A	43088932	3	1	79	1	0	0	0	0	1	0	0	0	17908	913	32	3	874	3	ZNF33B	10	43088932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4681477	43088932	92445815	10948	21265											
ZNF33B	7582	broad.mit.edu	37	chr10	43088961	43088961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaagatgtgacttttgAcaaaaggatttcccacactc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088961A>G	ENST00000359467.3	-	5	1551	c.1437T>C	c.(1435-1437)tgT>tgC	p.C479C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTGACTTTTGACAAAAGGATT	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1435-1437)tgT>tgC		zinc finger protein 33B							95	90	91					10																	43088961		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088961A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1437T>C	10.37:g.43088961A>G						ZNF33B_ENST00000486187.1_RNA	p.C479C	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1551	-			479					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1437T>C	CCDS7198.1																																																																																				0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		8	404	0	0	0	1	0	8	404					G	43088961	A	G	43088961	2	3	79	1	0	0	0	0	0	0	0	1	17908	273	10	4		4	ZNF33B	10	43088961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29	43088961	92445786	10949	21266											
BMS1	9790	broad.mit.edu	37	chr10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcagtatgagggttttcGacctgggatgtacgtccgca	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	881					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTTTTCGACCTGGGATG	0.448																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2641-2643)cGa>cAa		BMS1 ribosome biogenesis factor							124	121	122					10																	43315745		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43315745G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2642G>A	10.37:g.43315745G>A	ENSP00000363642:p.Arg881Gln						p.R881Q	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			16	2705	+			881					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2642G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201816	0.94997	.	.	ENSG00000165733	ENST00000374518	T	0.17054	2.3	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35375	-0.9791	10	0.38643	T	0.18	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	881	Q14692	BMS1_HUMAN	Q	881	ENSP00000363642:R881Q	ENSP00000363642:R881Q	R	+	2	0	BMS1	42635751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.609000	0.98334	2.352000	0.79861	0.454000	0.30748	CGA		0.448	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		144	604	0	0	0	1	0	144	604					A	43315745	G	A	43315745	3	1	79	1	0	0	0	0	1	0	0	0	1474	1058	37	1	2700	1	BMS1	10	43315745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226784	43315745	92219002	10950	21267											
RET	5979	broad.mit.edu	37	chr10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtacgtccatgccctgCgggacgcccctgaggaggtg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCATGCCCTGCGGGACGCCCC	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(169-171)Cgg>Tgg		ret proto-oncogene	Sunitinib(DB01268)						72	63	66					10																	43596002		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596002C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.169C>T	10.37:g.43596002C>T	ENSP00000347942:p.Arg57Trp					RET_ENST00000340058.5_Missense_Mutation_p.R57W	p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			2	401	+		Ovarian(717;0.0423)	57					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.169C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154086	0.38021	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81908	-1.42;-1.55	5.51	5.51	0.81932	.	0.511992	0.21682	N	0.070717	D	0.86619	0.5976	L	0.55481	1.735	0.30522	N	0.768312	D;D	0.89917	0.999;1.0	P;P	0.59288	0.72;0.855	D	0.85478	0.1177	10	0.87932	D	0	.	12.3445	0.55114	0.2805:0.7195:0.0:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	W	57	ENSP00000347942:R57W;ENSP00000344798:R57W	ENSP00000344798:R57W	R	+	1	2	RET	42916008	0.742000	0.28228	0.049000	0.19019	0.003000	0.03518	1.347000	0.33975	2.605000	0.88082	0.655000	0.94253	CGG		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		50	260	0	0	0	1	0	50	260					T	43596002	C	T	43596002	3	4	79	1	0	0	0	0	1	0	0	0	13285	759	27	1	175	1	RET	10	43596002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280257	43596002	91938745	10951	21268											
RET	5979	broad.mit.edu	37	chr10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctgggcccagcagaccttCcgggtggaacactggcccaa	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	329					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGCAGACCTTCCGGGTGGAAC	0.647		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(985-987)ttC>ttA		ret proto-oncogene	Sunitinib(DB01268)						54	46	49					10																	43601943		2202	4300	6502	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43601943C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.987C>A	10.37:g.43601943C>A	ENSP00000347942:p.Phe329Leu					RET_ENST00000340058.5_Missense_Mutation_p.F329L	p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			5	1219	+		Ovarian(717;0.0423)	329					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.987C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593304	0.86953	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80304	-1.25;-1.36	5.32	4.41	0.53225	.	0.108147	0.64402	D	0.000002	D	0.86422	0.5929	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.986;0.917;0.997	D	0.84611	0.0678	10	0.30854	T	0.27	.	11.9086	0.52727	0.0:0.9158:0.0:0.0842	.	75;329;329	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	329	ENSP00000347942:F329L;ENSP00000344798:F329L	ENSP00000344798:F329L	F	+	3	2	RET	42921949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.325000	0.33724	1.478000	0.48253	0.563000	0.77884	TTC		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		18	139	1	0	1.99824e-07	1	2.07512e-07	18	139					A	43601943	C	A	43601943	3	1	79	1	0	0	0	0	1	0	0	0	13285	854	30	3	1005	3	RET	10	43601943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5941	43601943	91932804	10952	21269											
RET	5979	broad.mit.edu	37	chr10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtacaccacggtggCcgtgaagatgctgaaaggta	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCACGGTGGCCGTGAAGATG	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Missense(1)	p.A756V(1)	large_intestine(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2266-2268)gCc>gAc		ret proto-oncogene	Sunitinib(DB01268)						105	111	109					10																	43612162		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43612162C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2267C>A	10.37:g.43612162C>A	ENSP00000347942:p.Ala756Asp					RET_ENST00000340058.5_Missense_Mutation_p.A756D	p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			12	2499	+		Ovarian(717;0.0423)	756			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2267C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153002	0.94645	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95980	-3.87;-3.87	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94620	3.56	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	0.99253	1.0888	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	756	ENSP00000347942:A756D;ENSP00000344798:A756D	ENSP00000344798:A756D	A	+	2	0	RET	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		31	797	1	0	2.61193e-14	1	2.83483e-14	31	797					A	43612162	C	A	43612162	3	1	79	1	0	0	0	0	1	0	0	0	13285	739	26	3	2313	3	RET	10	43612162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10219	43612162	91922585	10953	21270											
RET	5979	broad.mit.edu	37	chr10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctccccgagtgagctgCgagacctgctgtcagagttc	12	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAGTGAGCTGCGAGACCTGCT	0.562		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Nonsense(1)	p.R770*(1)	large_intestine(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2308-2310)Cga>Tga		ret proto-oncogene	Sunitinib(DB01268)						52	49	50					10																	43613844		2203	4300	6503	SO:0001587	stop_gained	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43613844C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2308C>T	10.37:g.43613844C>T	ENSP00000347942:p.Arg770*					RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			13	2540	+		Ovarian(717;0.0423)	770			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP	ENST00000355710.3	37	c.2308C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.586971	0.98875	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.58	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7699	0.78162	0.3268:0.6732:0.0:0.0	.	.	.	.	X	770	.	ENSP00000344798:R770X	R	+	1	2	RET	42933850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	1.324000	0.45282	0.655000	0.94253	CGA		0.562	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		25	144	0	0	0	1	0	25	144					T	43613844	C	T	43613844	4	4	79	1	0	0	0	0	0	1	0	0	13285	760	27	1	2358	1	RET	10	43613844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1682	43613844	91920903	10954	21271											
RET	5979	broad.mit.edu	37	chr10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaccacccggatgagCgggccctcaccatgggcgac	13	17	1	1	rs377767424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in MTC; familial form; dbSNP:rs55947360). {ECO:0000269|PubMed:10826520, ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGGATGAGCGGGCCCTCAC	0.647		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM066982	RET	M		c.(2530-2532)Cgg>Tgg		ret proto-oncogene	Sunitinib(DB01268)						47	43	44					10																	43615116		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615116C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2530C>T	10.37:g.43615116C>T	ENSP00000347942:p.Arg844Trp					RET_ENST00000340058.5_Missense_Mutation_p.R844W	p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2762	+		Ovarian(717;0.0423)	844		R -> L (in MTC; familial form; dbSNP:rs55947360).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2530C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889118	0.72524	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83335	-1.71;-1.71	5.36	-0.803	0.10886	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89496	0.3760	10	0.87932	D	0	.	16.3483	0.83171	0.6157:0.3843:0.0:0.0	.	590;844;844	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	844	ENSP00000347942:R844W;ENSP00000344798:R844W	ENSP00000344798:R844W	R	+	1	2	RET	42935122	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.985000	0.40668	0.186000	0.20125	0.313000	0.20887	CGG		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		43	280	0	0	0	1	0	43	280					T	43615116	C	T	43615116	3	4	79	1	0	0	0	0	1	0	0	0	13285	759	27	1	2584	1	RET	10	43615116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	43615116	91919631	10955	21272											
RET	5979	broad.mit.edu	37	chr10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtcagacccgaactggCctggagagagtcctgtacca	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1070					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGAACTGGCCTGGAGAGAG	0.448		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3208-3210)Cct>Tct		ret proto-oncogene	Sunitinib(DB01268)						164	156	158					10																	43623580		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43623580C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3208C>T	10.37:g.43623580C>T	ENSP00000347942:p.Pro1070Ser						p.P1070S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			20	3440	+		Ovarian(717;0.0423)	1070					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3208C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844386	0.51164	.	.	ENSG00000165731	ENST00000355710	D	0.93547	-3.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.17082	0.46	0.80722	D	1	P	0.44478	0.836	B	0.43754	0.43	D	0.89203	0.3559	10	0.54805	T	0.06	.	12.7379	0.57236	0.0:0.9248:0.0:0.0751	.	1070	P07949	RET_HUMAN	S	1070	ENSP00000347942:P1070S	ENSP00000347942:P1070S	P	+	1	0	RET	42943586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.752000	0.68728	2.593000	0.87608	0.563000	0.77884	CCT		0.448	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		127	652	0	0	0	1	0	127	652					T	43623580	C	T	43623580	3	4	79	1	0	0	0	0	1	0	0	0	13285	739	26	2	3318	2	RET	10	43623580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8464	43623580	91911167	10956	21273											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatgagtgagaagatgCggtcactgcaagaaagaagg	14	4	1	6	rs368373201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428																																						ENST00000374466.3																			1	Substitution - Missense(1)	p.R94W(1)	large_intestine(1)	endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(280-282)Cgg>Tgg		chondroitin sulfate N-acetylgalactosaminyltransferase 2		A	TRP/ARG	0,4406		0,0,2203	62	53	56		280	5.6	1	10		56	1,8599		0,1,4299	no	missense	CSGALNACT2	NM_018590.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/543	43650877	1,13005	2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650877C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.280C>T	10.37:g.43650877C>T	ENSP00000363590:p.Arg94Trp					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	615	+			94					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.280C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252355	0.95336	0.0	1.16E-4	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78481	2.39;-1.18	5.56	5.56	0.83823	.	0.122893	0.64402	D	0.000001	D	0.83677	0.5306	L	0.55481	1.735	0.43857	D	0.996457	D;D	0.71674	0.995;0.998	P;P	0.62491	0.865;0.903	D	0.84506	0.0619	10	0.87932	D	0	-12.2648	13.2048	0.59788	0.8669:0.1331:0.0:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	W	94	ENSP00000363590:R94W;ENSP00000363588:R94W	ENSP00000363588:R94W	R	+	1	2	CSGALNACT2	42970883	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	5.736000	0.68597	1.051000	0.40369	-0.264000	0.10439	CGG		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		8	246	0	0	0	1	0	8	246					T	43650877	C	T	43650877	3	4	79	1	0	0	0	0	1	0	0	0	3950	759	27	1	282	1	CSGALNACT2	10	43650877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27297	43650877	91883870	10957	21274											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaaggaatgtaggggCtaatggcataggctatcaga	14	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	104					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(310-312)gCt>gTt		chondroitin sulfate N-acetylgalactosaminyltransferase 2							73	62	66					10																	43650908		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650908C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.311C>T	10.37:g.43650908C>T	ENSP00000363590:p.Ala104Val					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	646	+			104					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.311C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236205	0.22626	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15256	2.44;2.44	5.56	2.68	0.31781	.	0.553571	0.21419	N	0.074849	T	0.06325	0.0163	N	0.03115	-0.41	0.28538	N	0.91226	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33954	-0.9848	10	0.21014	T	0.42	0.0722	6.5965	0.22677	0.0:0.5503:0.2714:0.1783	.	104;104	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	V	104	ENSP00000363590:A104V;ENSP00000363588:A104V	ENSP00000363588:A104V	A	+	2	0	CSGALNACT2	42970914	0.286000	0.24305	0.957000	0.39632	0.985000	0.73830	0.642000	0.24735	0.387000	0.25024	0.650000	0.86243	GCT		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		48	229	0	0	0	1	0	48	229					T	43650908	C	T	43650908	3	4	79	1	0	0	0	0	1	0	0	0	3950	797	28	2	313	2	CSGALNACT2	10	43650908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	43650908	91883839	10958	21275											
RASGEF1A	221002	broad.mit.edu	37	chr10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcactttcaaaggaggCgacgaagagagctgagagat	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	454	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557																																						ENST00000395809.1																			1	Substitution - Missense(1)	p.A401T(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1360-1362)Gcc>Acc		RasGEF domain family, member 1A							131	121	125					10																	43691985		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43691985C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1360G>A	10.37:g.43691985C>T	ENSP00000379154:p.Ala454Thr					RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T	p.A454T			Q8N9B8	RGF1A_HUMAN			12	3866	-			454			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1360G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162848	0.94727	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30981	1.51;1.51;1.51	5.14	5.14	0.70334	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.45175	0.1329	M	0.61703	1.905	0.80722	D	1	P;P	0.50819	0.807;0.939	B;P	0.50314	0.356;0.637	T	0.44283	-0.9338	10	0.59425	D	0.04	.	18.9656	0.92695	0.0:1.0:0.0:0.0	.	454;462	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	462;454;454	ENSP00000363583:A462T;ENSP00000379155:A454T;ENSP00000379154:A454T	ENSP00000363583:A462T	A	-	1	0	RASGEF1A	43011991	1.000000	0.71417	0.958000	0.39756	0.922000	0.55478	7.403000	0.79983	2.550000	0.86006	0.462000	0.41574	GCC		0.557	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		84	431	0	0	0	1	0	84	431					T	43691985	C	T	43691985	3	4	79	1	0	0	0	0	1	0	0	0	13119	768	27	1	93	1	RASGEF1A	10	43691985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41077	43691985	91842762	10959	21276											
RASGEF1A	221002	broad.mit.edu	37	chr10	43694616	43694616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgaagaactccaacatGcgggtccggtgtttcttctt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Silent_p.R300R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	292	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(874-876)cgC>cgT		RasGEF domain family, member 1A							65	57	59					10																	43694616		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43694616G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.876C>T	10.37:g.43694616G>A						RASGEF1A_ENST00000374459.1_Silent_p.R300R|RASGEF1A_ENST00000395810.1_Silent_p.R292R	p.R292R			Q8N9B8	RGF1A_HUMAN			8	3382	-			292			Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.876C>T	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435865	0.25813	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.45	-2.48	0.06423	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	.	3.3471	0.07139	0.0784:0.2701:0.2189:0.4325	.	.	.	.	Y	194	.	.	H	-	1	0	RASGEF1A	43014622	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.945000	0.40273	-0.255000	0.09486	-0.176000	0.13171	CAT		0.607	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		25	89	0	0	0	1	0	25	89					A	43694616	G	A	43694616	2	1	79	1	0	0	0	0	0	0	0	1	13119	1306	46	2		2	RASGEF1A	10	43694616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2631	43694616	91840131	10960	21277											
HNRNPF	3185	broad.mit.edu	37	chr10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaatgtcgttctcggtcGctttgtacggcaggcccctc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000544000.1	-	4	1306	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(898-900)gCg>gTg		heterogeneous nuclear ribonucleoprotein F							61	51	54					10																	43882434		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882434G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.899C>T	10.37:g.43882434G>A	ENSP00000438061:p.Ala300Val					HNRNPF_ENST00000544000.1_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V	p.A300V	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1385	-			300			RRM 3.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.899C>T	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016128	0.54468	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	4.38	3.48	0.39840	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00766	-1.1575	10	0.41790	T	0.15	-29.7746	10.982	0.47499	0.0928:0.0:0.9072:0.0	.	300	P52597	HNRPF_HUMAN	V	300;300;300;300;300;223	ENSP00000438061:A300V;ENSP00000400433:A300V;ENSP00000348345:A300V;ENSP00000349573:A300V;ENSP00000338477:A300V	ENSP00000338477:A300V	A	-	2	0	HNRNPF	43202440	1.000000	0.71417	0.837000	0.33122	0.698000	0.40448	8.811000	0.91954	1.446000	0.47643	0.655000	0.94253	GCG		0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			59	260	0	0	0	1	0	59	260					A	43882434	G	A	43882434	3	1	79	1	0	0	0	0	1	0	0	0	7295	1087	38	1	352	1	HNRNPF	10	43882434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187818	43882434	91652313	10961	21278											
HNRNPF	3185	broad.mit.edu	37	chr10	43882502	43882502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgtgaactcactgtcGccgtatctgtggtcatacat	9	11	3	1	rs566452971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0					ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58	51	53					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882502G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A						HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G	p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1317	-			277					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.831C>T	CCDS7204.1																																																																																				0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			40	173	0	0	0	1	0	40	173					A	43882502	G	A	43882502	2	1	79	1	0	0	0	0	0	0	0	1	7295	1074	38	1		1	HNRNPF	10	43882502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	43882502	91652245	10962	21279											
ZNF239	8187	broad.mit.edu	37	chr10	44052679	44052679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcgcctgtatggacGgcatgatggatgagcagact	14	7	0	3	rs534077175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTATGGACGGCATGATGGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22516	0.0		0.0	False		,,,				2504	0.0					ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(847-849)gcC>gcT		zinc finger protein 239							145	148	147					10																	44052679		2172	4287	6459	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052679G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"Zinc fingers, C2H2-type"	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.849C>T	10.37:g.44052679G>A						ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1501	-			283					Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	c.849C>T	CCDS41502.1																																																																																				0.498	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			138	617	0	0	0	1	0	138	617					A	44052679	G	A	44052679	2	1	79	1	0	0	0	0	0	0	0	1	17844	1103	39	1		1	ZNF239	10	44052679	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170177	44052679	91482068	10963	21280											
ZNF239	8187	broad.mit.edu	37	chr10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaaagattcttttaaCtggccattctggcaagttgc	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448																																						ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(424-426)caG>caT		zinc finger protein 239							105	96	99					10																	44053102		1893	4117	6010	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053102C>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"Zinc fingers, C2H2-type"	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.426G>T	10.37:g.44053102C>A	ENSP00000307774:p.Gln142His					ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1078	-			142					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.426G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726442	0.48833	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.1	-1.44	0.08856	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40572	-0.9556	9	0.72032	D	0.01	-18.9363	4.2722	0.10792	0.0:0.3819:0.1717:0.4463	.	142	Q16600	ZN239_HUMAN	H	142	ENSP00000307774:Q142H;ENSP00000363569:Q142H;ENSP00000398202:Q142H;ENSP00000443907:Q142H	ENSP00000307774:Q142H	Q	-	3	2	ZNF239	43373108	.	.	0.003000	0.11579	0.652000	0.38707	.	.	-0.263000	0.09378	-0.136000	0.14681	CAG		0.448	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			62	373	1	0	9.16383e-17	1	1.00836e-16	62	373					A	44053102	C	A	44053102	3	1	79	1	0	0	0	0	1	0	0	0	17844	564	20	3	954	3	ZNF239	10	44053102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	44053102	91481645	10964	21281											
ZNF239	8187	broad.mit.edu	37	chr10	44053455	44053455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaaggggaaatatctaGttcaggctccccatccactt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053455G>A	ENST00000306006.6	-	2	725	c.73C>T	c.(73-75)Cta>Tta	p.L25L	ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAATATCTAGTTCAGGCTCC	0.458																																						ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(73-75)Cta>Tta		zinc finger protein 239							74	69	71					10																	44053455		1927	4103	6030	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053455G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"Zinc fingers, C2H2-type"	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.73C>T	10.37:g.44053455G>A						ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	725	-			25					Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	c.73C>T	CCDS41502.1																																																																																				0.458	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			7	240	0	0	0	1	0	7	240					A	44053455	G	A	44053455	2	1	79	1	0	0	0	0	0	0	0	1	17844	1020	36	2		2	ZNF239	10	44053455	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	44053455	91481292	10965	21282											
ZNF485	220992	broad.mit.edu	37	chr10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccttttaagtcatcagaGaattcatactggccagaaac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(700-702)aGa>aTa		zinc finger protein 485							53	58	56					10																	44112192		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112192G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	10.37:g.44112192G>T	ENSP00000354694:p.Arg234Ile					ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	895	+			234					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.701G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		64	261	1	0	3.13296e-38	1	3.77304e-38	64	261					T	44112192	G	T	44112192	3	4	79	1	0	0	0	0	1	0	0	0	17991	942	33	3	715	3	ZNF485	10	44112192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58737	44112192	91422555	10966	21283											
ZNF32	7580	broad.mit.edu	37	chr10	44139542	44139542	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcgctggtgcacagccaGactccctctctgggtgaagc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGCACAGCCAGACTCCCTCTC	0.498																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(778-780)Ctg>Ttg		zinc finger protein 32							48	50	49					10																	44139542		2203	4300	6503	SO:0001819	synonymous_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139542G>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.778C>T	10.37:g.44139542G>A						ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	p.L260L	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	966	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	260					Q92951	Silent	SNP	ENST00000395797.1	37	c.778C>T	CCDS7206.1																																																																																				0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		41	163	0	0	0	1	0	41	163					A	44139542	G	A	44139542	2	1	79	1	0	0	0	0	0	0	0	1	17891	933	33	2		2	ZNF32	10	44139542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27350	44139542	91395205	10967	21284											
ZNF32	7580	broad.mit.edu	37	chr10	44139576	44139576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctttttccacactgGccgcacagatagggtgtctc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCACACTGGCCGCACAGAT	0.537																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(742-744)ggC>ggT		zinc finger protein 32							60	62	61					10																	44139576		2203	4300	6503	SO:0001819	synonymous_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139576G>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.744C>T	10.37:g.44139576G>A						ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	p.G248G	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	932	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	248					Q92951	Silent	SNP	ENST00000395797.1	37	c.744C>T	CCDS7206.1																																																																																				0.537	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	228	0	0	0	1	0	7	228					A	44139576	G	A	44139576	2	1	79	1	0	0	0	0	0	0	0	1	17891	1190	42	2		2	ZNF32	10	44139576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	44139576	91395171	10968	21285											
OR13A1	79290	broad.mit.edu	37	chr10	45799016	45799016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacttgctcttccctgcGctgtagccagagaccgggct	11	15	1	1	rs189836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(853-855)agC>agT		olfactory receptor, family 13, subfamily A, member 1		C		1,4405		0,1,2202	70	65	67		855	-2.4	0	10		67	0,8600		0,0,4300	no	coding-synonymous	OR13A1	NM_001004297.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		285/329	45799016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799016G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.855C>T	10.37:g.45799016G>A						OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	1163	-			285					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.855C>T	CCDS31188.1																																																																																				0.552	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		52	276	0	0	0	1	0	52	276					A	45799016	G	A	45799016	2	1	79	1	0	0	0	0	0	0	0	1	10975	1078	38	1		1	OR13A1	10	45799016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1659440	45799016	89735731	10969	21286											
OR13A1	79290	broad.mit.edu	37	chr10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccacagaaatccaagCgcagcatcagccccgtgtgg	13	13	1	1	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(547-549)cGc>cAc		olfactory receptor, family 13, subfamily A, member 1		C	HIS/ARG	49,4357	48.9+/-83.8	0,49,2154	48	50	50		548	1.9	0	10	dbSNP_132	50	0,8596		0,0,4298	yes	missense	OR13A1	NM_001004297.2	29	0,49,6452	TT,TC,CC		0.0,1.1121,0.3769	possibly-damaging	183/329	45799323	49,12953	2203	4298	6501	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799323C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.548G>A	10.37:g.45799323C>T	ENSP00000451950:p.Arg183His					OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	856	-			183					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.548G>A	CCDS31188.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	10.85	1.467132	0.26335	0.011121	0.0	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00169	8.63;8.63;8.63	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00109	0.0003	L	0.45137	1.4	0.09310	N	1	B	0.28820	0.224	B	0.30782	0.12	T	0.36744	-0.9735	10	0.59425	D	0.04	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	H	183	ENSP00000451950:R183H;ENSP00000438657:R183H;ENSP00000363522:R183H	ENSP00000311379:R183H	R	-	2	0	OR13A1	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC		0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		77	307	0	0	0	1	0	77	307					T	45799323	C	T	45799323	3	4	79	1	0	0	0	0	1	0	0	0	10975	768	27	1	442	1	OR13A1	10	45799323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	45799323	89735424	10970	21287											
ALOX5	240	broad.mit.edu	37	chr10	45939272	45939272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgccgcggtcaacttcgGccaggtaggcagggccgggc	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45939272G>A	ENST00000374391.2	+	12	1723	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	557	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GTCAACTTCGGCCAGGTAGGC	0.697																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1669-1671)gGc>gAc		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						24	23	23					10																	45939272		2201	4298	6499	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45939272G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1670G>A	10.37:g.45939272G>A	ENSP00000363512:p.Gly557Asp					ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D	p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			12	1723	+		Lung SC(717;0.0257)	557			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1670G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408430	0.96051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90324	-2.65;-2.65	5.23	5.23	0.72850	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97434	1.0017	10	0.87932	D	0	-35.575	16.3342	0.83052	0.0:0.0:1.0:0.0	.	557;525;557	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	D	557	ENSP00000437634:G557D;ENSP00000363512:G557D	ENSP00000363512:G557D	G	+	2	0	ALOX5	45259278	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.652000	0.98499	2.723000	0.93209	0.650000	0.86243	GGC		0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			6	66	0	0	0	1	0	6	66					A	45939272	G	A	45939272	3	1	79	1	0	0	0	0	1	0	0	0	540	1203	42	2	1716	2	ALOX5	10	45939272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139949	45939272	89595475	10971	21288											
ANUBL1	93550	broad.mit.edu	37	chr10	46121762	46121762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgactgagaagaagaaggCtgtagcttcccaaactcaaa	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46121762C>T	ENST00000344646.5	-	7	1724	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Silent_p.Q429Q|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	503							zinc ion binding (GO:0008270)										AAGAAGAAGGCTGTAGCTTCC	0.413																																						ENST00000374366.3																			0											c.(1285-1287)caG>caA		zinc finger, AN1-type domain 4							78	80	79					10																	46121762		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46121762C>T	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1509G>A	10.37:g.46121762C>T						ZFAND4_ENST00000344646.5_Silent_p.Q503Q|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	p.Q429Q			Q86XD8	ANUB1_HUMAN			8	1752	-			503					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.1287G>A	CCDS7214.1																																																																																				0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		89	352	0	0	0	1	0	89	352					T	46121762	C	T	46121762	2	4	79	1	0	0	0	0	0	0	0	1	713	796	28	2		2	ANUBL1	10	46121762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182490	46121762	89412985	10972	21289											
FAM21C	253725	broad.mit.edu	37	chr10	46264949	46264949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagcatctgacagcaggtCtaaaggagaacccagggatt	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	ENST00000336378.4	+	20	2034	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	639					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGCAGGTCTAAAGGAGAA	0.463																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1915-1917)tCt>tTt		family with sequence similarity 21, member C							7	7	7					10																	46264949		1433	3432	4865	SO:0001583	missense	253725							g.chr10:46264949C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1916C>T	10.37:g.46264949C>T	ENSP00000337541:p.Ser639Phe					FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F	p.S639F	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			20	2034	+			641					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1916C>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252178	0.22880	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	2.27	0.28462	.	0.613015	0.16911	N	0.194482	T	0.60495	0.2273	M	0.72479	2.2	0.34743	D	0.730933	D;P;P;D	0.60575	0.988;0.933;0.933;0.988	P;P;P;P	0.56700	0.804;0.474;0.474;0.714	T	0.70103	-0.4964	9	0.56958	D	0.05	-3.7327	7.059	0.25115	0.2697:0.7303:0.0:0.0	.	617;641;639;584	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	639;641;617;641;641;583;553	.	ENSP00000337541:S639F	S	+	2	0	FAM21C	45584955	0.337000	0.24766	0.471000	0.27229	0.212000	0.24457	1.209000	0.32357	1.836000	0.53414	0.549000	0.68633	TCT		0.463	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				61	242	0	0	0	1	0	61	242					T	46264949	C	T	46264949	3	4	79	1	0	0	0	0	1	0	0	0	5563	913	32	2	2000	2	FAM21C	10	46264949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143187	46264949	89269798	10973	21290											
AGAP4	119016	broad.mit.edu	37	chr10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttggatcgactgcagggCcatggccttgctctggctgg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1327-1329)Gcc>Acc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							19	18	18					10																	46322028		1954	3781	5735	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322028C>T	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23459	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 1", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "centaurin, gamma-like family, member 5"	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1327G>A	10.37:g.46322028C>T	ENSP00000392513:p.Ala443Thr						p.A443T	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			7	1452	-			443			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1327G>A	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575236	0.45902	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.44482	0.92	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.54319	0.1851	M	0.69463	2.115	0.41499	D	0.988276	D;P;D	0.76494	0.999;0.588;0.999	D;P;D	0.91635	0.998;0.573;0.999	T	0.50320	-0.8842	9	0.51188	T	0.08	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	T	443;219	ENSP00000392513:A443T	ENSP00000343438:A219T	A	-	1	0	AGAP4	45642034	1.000000	0.71417	0.031000	0.17742	0.032000	0.12392	5.212000	0.65225	0.107000	0.17824	0.109000	0.15622	GCC		0.577	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		98	770	0	0	0	1	0	98	770					T	46322028	C	T	46322028	3	4	79	1	0	0	0	0	1	0	0	0	370	739	26	2	668	2	AGAP4	10	46322028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57079	46322028	89212719	10974	21291											
SYT15	83849	broad.mit.edu	37	chr10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccactcggcccagctgCtggctctctgcaggggaggg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374321.4	-	8	1197	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.Q430H	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	377	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1288-1290)caG>caT		synaptotagmin XV							36	44	41					10																	46962105		2120	4239	6359	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46962105C>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1131G>T	10.37:g.46962105C>A	ENSP00000363441:p.Gln377His					SYT15_ENST00000374321.4_Missense_Mutation_p.Q377H|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA	p.Q430H			Q9BQS2	SYT15_HUMAN			7	1877	-			377					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1290G>T	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.007040	0.35415	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.70282	-0.47;-0.47	4.71	-3.63	0.04529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.702880	0.02769	N	0.119530	T	0.37758	0.1015	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.44086	T	0.13	.	1.9877	0.03439	0.2809:0.2539:0.3579:0.1073	.	377	Q9BQS2	SYT15_HUMAN	H	216;430;377	ENSP00000363443:Q430H;ENSP00000363441:Q377H	ENSP00000363441:Q377H	Q	-	3	2	SYT15	46382111	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	-0.361000	0.07612	-0.937000	0.03719	-0.448000	0.05591	CAG		0.652	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		17	241	1	0	9.16793e-09	1	9.60025e-09	17	241					A	46962105	C	A	46962105	3	1	79	1	0	0	0	0	1	0	0	0	15523	796	28	3	192	3	SYT15	10	46962105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640077	46962105	88572642	10975	21292											
GPRIN2	9721	broad.mit.edu	37	chr10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggccagagctccgcaagActgccagcagcaccgtgtgg	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374317.1	+	3	397	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(124-126)Act>Cct		G protein regulated inducer of neurite outgrowth 2							33	42	39					10																	46999004		2201	4299	6500	SO:0001583	missense	9721							g.chr10:46999004A>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.124A>C	10.37:g.46999004A>C	ENSP00000363436:p.Thr42Pro					GPRIN2_ENST00000374317.1_Missense_Mutation_p.T42P	p.T42P			O60269	GRIN2_HUMAN			1	1079	+			42					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.124A>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719055	0.48622	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03689	3.84;3.84	5.44	4.31	0.51392	.	0.509005	0.18304	N	0.145333	T	0.02342	0.0072	N	0.14661	0.345	0.21802	N	0.99954	P	0.34977	0.478	B	0.26416	0.069	T	0.45512	-0.9256	10	0.66056	D	0.02	-3.7877	8.1206	0.30969	0.9086:0.0:0.0914:0.0	.	42	O60269	GRIN2_HUMAN	P	42	ENSP00000363436:T42P;ENSP00000363433:T42P	ENSP00000363433:T42P	T	+	1	0	GPRIN2	46419010	1.000000	0.71417	0.885000	0.34714	0.783000	0.44284	6.867000	0.75511	1.026000	0.39733	0.533000	0.62120	ACT		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		36	463	0	0	0	1	0	36	463					C	46999004	A	C	46999004	3	2	79	1	0	0	0	0	1	0	0	0	6760	275	10	4	126	4	GPRIN2	10	46999004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36899	46999004	88535743	10976	21293											
GPRIN2	9721	broad.mit.edu	37	chr10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctagtgctgctgctatGcagaggagccattcagacct	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374317.1	+	3	624	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	117										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCTGCTATGCAGAGGAGCC	0.647																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(349-351)atG>atA		G protein regulated inducer of neurite outgrowth 2							37	30	33					10																	46999231		2203	4296	6499	SO:0001583	missense	9721							g.chr10:46999231G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.351G>A	10.37:g.46999231G>A	ENSP00000363436:p.Met117Ile					GPRIN2_ENST00000374317.1_Missense_Mutation_p.M117I	p.M117I			O60269	GRIN2_HUMAN			1	1306	+			117					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.351G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496194	0.26861	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03065	4.06;4.06	5.64	2.72	0.32119	.	1.004860	0.08019	N	0.991607	T	0.03739	0.0106	L	0.40543	1.245	0.26608	N	0.972885	B	0.10296	0.003	B	0.04013	0.001	T	0.48937	-0.8990	10	0.18710	T	0.47	-2.2012	5.2223	0.15375	0.1712:0.0:0.6646:0.1642	.	117	O60269	GRIN2_HUMAN	I	117	ENSP00000363436:M117I;ENSP00000363433:M117I	ENSP00000363433:M117I	M	+	3	0	GPRIN2	46419237	0.986000	0.35501	0.797000	0.32132	0.399000	0.30720	0.575000	0.23729	0.395000	0.25257	0.650000	0.86243	ATG		0.647	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		7	190	0	0	0	1	0	7	190					A	46999231	G	A	46999231	3	1	79	1	0	0	0	0	1	0	0	0	6760	1319	46	2	353	2	GPRIN2	10	46999231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	46999231	88535516	10977	21294											
GPRIN2	9721	broad.mit.edu	37	chr10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcagcccttggcagcaGccctgtccacagggctcagc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374317.1	+	3	719	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(445-447)aGc>aAc		G protein regulated inducer of neurite outgrowth 2							38	32	34					10																	46999326		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999326G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.446G>A	10.37:g.46999326G>A	ENSP00000363436:p.Ser149Asn					GPRIN2_ENST00000374317.1_Missense_Mutation_p.S149N	p.S149N			O60269	GRIN2_HUMAN			1	1401	+			149					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.446G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108281	0.37242	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04234	3.67;3.67	5.41	2.53	0.30540	.	0.875658	0.09507	N	0.792806	T	0.12774	0.0310	M	0.65975	2.015	0.18873	N	0.999989	D	0.61080	0.989	P	0.58266	0.836	T	0.21861	-1.0233	10	0.33940	T	0.23	-2.5873	5.3762	0.16166	0.0:0.6485:0.1713:0.1803	.	149	O60269	GRIN2_HUMAN	N	149	ENSP00000363436:S149N;ENSP00000363433:S149N	ENSP00000363433:S149N	S	+	2	0	GPRIN2	46419332	0.007000	0.16637	0.068000	0.19968	0.665000	0.39181	0.497000	0.22514	0.785000	0.33685	-0.153000	0.13522	AGC		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		22	169	0	0	0	1	0	22	169					A	46999326	G	A	46999326	3	1	79	1	0	0	0	0	1	0	0	0	6760	971	34	2	448	2	GPRIN2	10	46999326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	46999326	88535421	10978	21295											
GPRIN2	9721	broad.mit.edu	37	chr10	46999982	46999982	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtgttcccagaggtaactCtggggtccagcctggaggag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999982C>A	ENST00000374317.1	+	3	1375	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368								p.L368V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGAGGTAACTCTGGGGTCCAG	0.667																																						ENST00000374314.4																			1	Substitution - Missense(1)	p.L368V(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1102-1104)Ctg>Atg		G protein regulated inducer of neurite outgrowth 2							133	119	124					10																	46999982		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999982C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1102C>A	10.37:g.46999982C>A	ENSP00000363436:p.Leu368Met					GPRIN2_ENST00000374317.1_Missense_Mutation_p.L368M	p.L368M			O60269	GRIN2_HUMAN			1	2057	+			368					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1102C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029659	0.19512	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.25749	1.78;1.78	4.85	1.91	0.25777	.	0.253457	0.20905	N	0.083570	T	0.41305	0.1153	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.10567	-1.0624	10	0.62326	D	0.03	-5.6541	5.7221	0.17992	0.0:0.6451:0.1653:0.1896	.	368	O60269	GRIN2_HUMAN	M	368	ENSP00000363436:L368M;ENSP00000363433:L368M	ENSP00000363433:L368M	L	+	1	2	GPRIN2	46419988	0.010000	0.17322	0.088000	0.20740	0.019000	0.09904	0.134000	0.15932	0.583000	0.29574	-0.676000	0.03789	CTG		0.667	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		16	570	1	0	3.41278e-10	1	3.61262e-10	16	570					A	46999982	C	A	46999982	3	1	79	1	0	0	0	0	1	0	0	0	6760	912	32	3	1104	3	GPRIN2	10	46999982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	656	46999982	88534765	10979	21296											
PPYR1	5540	broad.mit.edu	37	chr10	47087512	47087512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaccggcgcctgcagagGcaggggcgcgtgtttcacaa	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47087512G>A	ENST00000395716.1	+	2	814	c.729G>A	c.(727-729)agG>agA	p.R243R	NPY4R_ENST00000374312.1_Silent_p.R243R			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	243					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCCTGCAGAGGCAGGGGCGCG	0.597																																						ENST00000374312.1																			0											c.(727-729)agG>agA		neuropeptide Y receptor Y4							154	126	136					10																	47087512		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087512G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.729G>A	10.37:g.47087512G>A						NPY4R_ENST00000395716.1_Silent_p.R243R	p.R243R	NM_005972.4	NP_005963.3					3	1148	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.729G>A	CCDS31193.1																																																																																				0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			53	728	0	0	0	1	0	53	728					A	47087512	G	A	47087512	2	1	79	1	0	0	0	0	0	0	0	1	12463	1194	42	2		2	PPYR1	10	47087512	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87530	47087512	88447235	10980	21297											
ANXA8L2	728113	broad.mit.edu	37	chr10	47756730	47756730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgccactcacctgctgaGaggtaccagggagggagggg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	ENST00000374277.5	+	8	766	c.644G>A	c.(643-645)aGa>aAa	p.R215K	AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						CACCTGCTGAGAGGTACCAGG	0.587																																						ENST00000374277.5																			0				endometrium(1)|pancreas(1)	2						c.(643-645)aGa>aAa		annexin A8-like 2							7	5	6					10																	47756730		1537	2833	4370	SO:0001583	missense	244						calcium ion binding|calcium-dependent phospholipid binding	g.chr10:47756730G>A																												ENST00000374277.5:c.644G>A	10.37:g.47756730G>A	ENSP00000363395:p.Arg215Lys					ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|ANXA8L2_ENST00000449464.2_3'UTR|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K	p.R215K	NM_001630.2	NP_001621.2	Q5VT79	AXA82_HUMAN			8	766	+			215						Missense_Mutation	SNP	ENST00000374277.5	37	c.644G>A	CCDS7216.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343474	0.01277	.	.	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.03094	4.05;4.05;4.05	1.76	1.76	0.24704	Annexin repeat, conserved site (1);	0.092566	0.47455	D	0.000227	T	0.01489	0.0048	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.25351	0.007;0.124;0.0	B;B;B	0.24269	0.01;0.052;0.007	T	0.45600	-0.9250	10	0.02654	T	1	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	158;196;215	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	K	196;215;153	ENSP00000339264:R196K;ENSP00000363395:R215K;ENSP00000440742:R153K	ENSP00000339264:R196K	R	+	2	0	ANXA8L2	47226736	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.312000	0.19397	1.340000	0.45581	0.274000	0.19336	AGA		0.587	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047866.1			60	224	0	0	0	1	0	60	224					A	47756730	G	A	47756730	3	1	79	1	0	0	0	0	1	0	0	0	724	942	33	2	674	2	ANXA8L2	10	47756730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669218	47756730	87778017	10981	21298											
ZNF488	118738	broad.mit.edu	37	chr10	48371057	48371057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccagcagagaggcctgaGctaacctcagtcttccctgc	10	15	2	2	rs369021822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.E68E			Q96MN9	ZN488_HUMAN	zinc finger protein 488	175					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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(523-525)gaG>gaA		zinc finger protein 488							77	76	76					10																	48371057		2203	4300	6503	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371057G>A	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.525G>A	10.37:g.48371057G>A						ZNF488_ENST00000586537.1_Silent_p.E68E|ZNF488_ENST00000494156.1_3'UTR	p.E175E			Q96MN9	ZN488_HUMAN			2	752	+			175					Q05CE0	Silent	SNP	ENST00000395702.2	37	c.525G>A	CCDS7217.1																																																																																				0.567	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		79	317	0	0	0	1	0	79	317					A	48371057	G	A	48371057	2	1	79	1	0	0	0	0	0	0	0	1	17993	962	34	2		2	ZNF488	10	48371057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614327	48371057	87163690	10982	21299											
RBP3	5949	broad.mit.edu	37	chr10	48389870	48389870	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgtgtagtagtccttcagGacctcctggaggcagtggac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	336	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTCCTTCAGGACCTCCTGGA	0.642																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1006-1008)gtC>gtA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						39	38	38					10																	48389870		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389870G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1008C>A	10.37:g.48389870G>T							p.V336V	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1121	-			336			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1008C>A	CCDS7218.1																																																																																				0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	278	1	0	1.3612e-06	1	1.40558e-06	14	278					T	48389870	G	T	48389870	2	4	79	1	0	0	0	0	0	0	0	1	13207	1161	41	3		3	RBP3	10	48389870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18813	48389870	87144877	10983	21300											
RBP3	5949	broad.mit.edu	37	chr10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctcagcacctcctggcCcgggacgctgtccacccgca	10	19	1	0	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	140	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0					ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(418-420)Ggc>Agc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	SER/GLY	16,4390	23.3+/-48.9	0,16,2187	68	75	73		418	1.6	0	10	dbSNP_126	73	0,8600		0,0,4300	yes	missense	RBP3	NM_002900.2	56	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	possibly-damaging	140/1248	48390460	16,12990	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390460C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.418G>A	10.37:g.48390460C>T	ENSP00000224600:p.Gly140Ser						p.G140S	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	531	-			140			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.418G>A	CCDS7218.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.52	2.262480	0.39995	0.003631	0.0	ENSG00000107618	ENST00000224600	T	0.63096	-0.02	5.7	1.6	0.23607	Interphotoreceptor retinol-binding (2);	0.295374	0.42294	N	0.000726	T	0.68805	0.3041	L	0.46157	1.445	0.37162	D	0.902659	D	0.71674	0.998	D	0.76575	0.988	T	0.69518	-0.5124	10	0.56958	D	0.05	-14.0283	9.285	0.37751	0.0:0.6973:0.0:0.3027	rs34932849	140	P10745	RET3_HUMAN	S	140	ENSP00000224600:G140S	ENSP00000224600:G140S	G	-	1	0	RBP3	48010466	0.213000	0.23551	0.010000	0.14722	0.012000	0.07955	1.170000	0.31883	0.030000	0.15379	0.650000	0.86243	GGC		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		22	589	0	0	0	1	0	22	589					T	48390460	C	T	48390460	3	4	79	1	0	0	0	0	1	0	0	0	13207	623	22	2	3341	2	RBP3	10	48390460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	48390460	87144287	10984	21301											
GDF2	2658	broad.mit.edu	37	chr10	48413908	48413908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgccagccccggcGctccttttccgcctggctaa	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	320					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612																																						ENST00000249598.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(958-960)agC>agT		growth differentiation factor 2							50	52	51					10																	48413908		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413908G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.960C>T	10.37:g.48413908G>A							p.S320S	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			2	1119	-			320					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.960C>T	CCDS7219.1																																																																																				0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		78	370	0	0	0	1	0	78	370					A	48413908	G	A	48413908	2	1	79	1	0	0	0	0	0	0	0	1	6343	1078	38	1		1	GDF2	10	48413908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23448	48413908	87120839	10985	21302											
GDF10	2662	broad.mit.edu	37	chr10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcccactgcttcctccGggctttctgcatcgtcttct	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	366					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTTCCTCCGGGCTTTCTGC	0.597																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1096-1098)Cgg>Tgg		growth differentiation factor 10							95	81	86					10																	48428790		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428790G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1096C>T	10.37:g.48428790G>A	ENSP00000224605:p.Arg366Trp						p.R366W	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1361	-			366					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1096C>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288797	0.59976	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.79653	-1.29	5.43	1.11	0.20524	Transforming growth factor-beta, C-terminal (1);	0.050803	0.64402	D	0.000001	D	0.86443	0.5934	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83990	0.0337	10	0.87932	D	0	.	6.3463	0.21351	0.144:0.0:0.5155:0.3405	.	176;366	Q8N6T2;P55107	.;BMP3B_HUMAN	W	176;366	ENSP00000224605:R366W	ENSP00000224605:R366W	R	-	1	2	GDF10	48048796	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	2.333000	0.43912	0.332000	0.23536	0.655000	0.94253	CGG		0.597	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		10	347	0	0	0	1	0	10	347					A	48428790	G	A	48428790	3	1	79	1	0	0	0	0	1	0	0	0	6340	1115	39	1	348	1	GDF10	10	48428790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14882	48428790	87105957	10986	21303											
GDF10	2662	broad.mit.edu	37	chr10	48429256	48429256	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatcccggcgggccgccttGacgatgggggagatgtcctt	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	210					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(628-630)gtC>gtT		growth differentiation factor 10							9	14	12					10																	48429256		2144	4237	6381	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429256G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.630C>T	10.37:g.48429256G>A							p.V210V	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	895	-			210					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.630C>T	CCDS7220.1																																																																																				0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		45	156	0	0	0	1	0	45	156					A	48429256	G	A	48429256	2	1	79	1	0	0	0	0	0	0	0	1	6340	1277	45	2		2	GDF10	10	48429256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	48429256	87105491	10987	21304											
FRMPD2	143162	broad.mit.edu	37	chr10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgaattctttgtcagCtgagagttcaggtgtctatt	11	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458																																						ENST00000374201.3																			1	Substitution - Missense(1)	p.A1185T(1)	lung(1)	NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3553-3555)Gct>Tct		FERM and PDZ domain containing 2							104	112	109					10																	49371699		2189	4297	6486	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49371699C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3553G>T	10.37:g.49371699C>A	ENSP00000363317:p.Ala1185Ser					FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR	p.A1185S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	28	3855	-			1185					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.3553G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674182	0.00758	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.61742	3.65;0.14;0.08;0.08	3.75	-0.861	0.10676	.	.	.	.	.	T	0.30324	0.0761	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.007;0.001;0.007;0.007	B;B;B;B;B	0.14578	0.01;0.011;0.001;0.011;0.01	T	0.15009	-1.0452	9	0.20519	T	0.43	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	S	137;1185;1160;1153	ENSP00000422446:A137S;ENSP00000363317:A1185S;ENSP00000307079:A1160S;ENSP00000384339:A1153S	ENSP00000307079:A1160S	A	-	1	0	FRMPD2	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		110	584	1	0	6.33484e-38	1	7.62105e-38	110	584					A	49371699	C	A	49371699	3	1	79	1	0	0	0	0	1	0	0	0	6085	797	28	3	384	3	FRMPD2	10	49371699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942443	49371699	86163048	10988	21305											
FRMPD2	143162	broad.mit.edu	37	chr10	49446033	49446033	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagccttattttgcttaCcttgctccttctttgcagaa	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTTTGCTTACCTTGCTCCTT	0.577																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.e8+1		FERM and PDZ domain containing 2							127	126	126					10																	49446033		2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49446033C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.921+1G>A	10.37:g.49446033C>T						FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site		NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	8	1224	-								B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37		CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609163	0.28623	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7138	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMPD2	49116039	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.079000	0.50104	2.268000	0.75426	0.462000	0.41574	.		0.577	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Intron	165	697	0	0	0	1	0	165	697					T	49446033	C	T	49446033	5	4	79	1	0	0	0	0	0	0	1	0	6085	521	18	2	3095	2	FRMPD2	10	49446033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74334	49446033	86088714	10989	21306											
MAPK8	5599	broad.mit.edu	37	chr10	49612896	49612896	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaatttcttattacagcGcagcttatgatgccattctt	6	8	2	2	rs200350498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000395611.3_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T|MAPK8_ENST00000360332.3_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|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 protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTATTACAGCGCAGCTTATGA	0.373																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.e3-1		mitogen-activated protein kinase 8							65	68	67					10																	49612896		2203	4300	6503	SO:0001630	splice_region_variant	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49612896G>A	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.123-1G>A	10.37:g.49612896G>A						MAPK8_ENST00000374174.1_Splice_Site_p.A42_splice|MAPK8_ENST00000374182.3_Splice_Site_p.A42_splice|MAPK8_ENST00000360332.3_Splice_Site_p.A42_splice|MAPK8_ENST00000395611.3_Splice_Site_p.A42_splice	p.A42_splice			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	3	305	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	42			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Splice_Site	SNP	ENST00000374189.1	37	c.122_splice	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622515	0.87460	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056698	0.64402	D	0.000001	D	0.88833	0.6544	L	0.48260	1.515	0.80722	D	1	P;D;D;D;D	0.76494	0.951;0.999;0.995;0.999;0.999	P;D;D;D;D	0.68621	0.717;0.932;0.932;0.959;0.932	D	0.88888	0.3344	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	42;42;42;42;42	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	T	42	ENSP00000387936:A42T;ENSP00000363304:A42T;ENSP00000397729:A42T;ENSP00000363297:A42T;ENSP00000363294:A42T;ENSP00000353483:A42T;ENSP00000363291:A42T;ENSP00000363289:A42T;ENSP00000378974:A42T	ENSP00000353483:A42T	A	+	1	0	MAPK8	49282902	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.724000	0.74747	2.937000	0.99478	0.650000	0.86243	GCA		0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		Missense_Mutation	44	257	0	0	0	1	0	44	257					A	49612896	G	A	49612896	5	1	79	1	0	0	0	0	0	0	1	0	9324	1101	38	1	130	1	MAPK8	10	49612896	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166863	49612896	85921851	10990	21307											
MAPK8	5599	broad.mit.edu	37	chr10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaccaagaatggagTtatacgggggcagccctctc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	371					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|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 protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAGAATGGAGTTATACGGGGG	0.373																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.(1111-1113)gTt>gGt		mitogen-activated protein kinase 8							83	86	85					10																	49639287		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49639287T>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1112T>G	10.37:g.49639287T>G	ENSP00000363304:p.Val371Gly					MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G	p.V371G			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	11	1293	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	371					B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.1112T>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620018	0.87460	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;T	0.75367	-0.92;-0.9;-0.9;-0.92;-0.93;-0.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.75447	2.3	0.80722	D	1	D;B;B;B;B	0.54601	0.967;0.125;0.001;0.001;0.257	D;B;B;B;B	0.64595	0.927;0.096;0.002;0.002;0.287	D	0.83661	0.0161	10	0.34782	T	0.22	.	16.2107	0.82151	0.0:0.0:0.0:1.0	.	295;371;371;371;371	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	371;371;371;371;371;295	ENSP00000363304:V371G;ENSP00000363297:V371G;ENSP00000363294:V371G;ENSP00000353483:V371G;ENSP00000363291:V371G;ENSP00000378974:V295G	ENSP00000353483:V371G	V	+	2	0	MAPK8	49309293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.293000	0.77203	0.477000	0.44152	GTT		0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			8	176	0	0	0	1	0	8	176					G	49639287	T	G	49639287	3	3	79	1	0	0	0	0	1	0	0	0	9324	1725	60	4	1226	4	MAPK8	10	49639287	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26391	49639287	85895460	10991	21308											
LRRC18	474354	broad.mit.edu	37	chr10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgctcaagtcaaggcGctttttcccatcaaaagtga	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm (GO:0005737)		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478																																						ENST00000374160.3																			1	Substitution - Missense(1)	p.R31C(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(91-93)Cgc>Tgc		leucine rich repeat containing 18							85	75	79					10																	50122110		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50122110G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.91C>T	10.37:g.50122110G>A	ENSP00000363275:p.Arg31Cys					WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	p.R31C	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	167	-			31		R -> H (in dbSNP:rs17772611).			Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.91C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	LRRC18	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC		0.478	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		35	184	0	0	0	1	0	35	184					A	50122110	G	A	50122110	3	1	79	1	0	0	0	0	1	0	0	0	9012	1087	38	1	702	1	LRRC18	10	50122110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482823	50122110	85412637	10992	21309											
C10orf72	196740	broad.mit.edu	37	chr10	50256539	50256539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttggcagggactgcGggaggaatgtcaggcttctc	14	9	2	0	rs17854125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50256539G>A	ENST00000332853.4	-	6	782	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P253P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CAGGGACTGCGGGAGGAATGT	0.532													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0					ENST00000332853.3																			1	Substitution - coding silent(1)	p.P253P(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(757-759)ccC>ccT		V-set and transmembrane domain containing 4		A		2,4404	826.0+/-416.6	0,2,2201	106	93	97		759	-0.3	0.9	10	dbSNP_123	97	0,8600		0,0,4300	no	coding-synonymous	VSTM4	NM_001031746.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		253/321	50256539	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50256539G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.759C>T	10.37:g.50256539G>A							p.P253P	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			6	782	-			253					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.759C>T	CCDS31198.1																																																																																				0.532	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		52	297	0	0	0	1	0	52	297					A	50256539	G	A	50256539	2	1	79	1	0	0	0	0	0	0	0	1	1620	1103	39	1		1	C10orf72	10	50256539	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134429	50256539	85278208	10993	21310											
C10orf71	118461	broad.mit.edu	37	chr10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagtcaggagggtgcCcgctgaagtttccaacaccc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532																																						ENST00000374144.3																			0				endometrium(1)	1						c.(595-597)cCc>cTc		chromosome 10 open reading frame 71							37	38	38					10																	50531186		1985	4156	6141	SO:0001583	missense	118461							g.chr10:50531186C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.596C>T	10.37:g.50531186C>T	ENSP00000363259:p.Pro199Leu					C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L	p.P199L			Q711Q0	CJ071_HUMAN			3	884	+			199					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.596C>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953322	0.18431	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12672	2.66;3.8	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000139	T	0.09423	0.0232	L	0.46157	1.445	0.47547	D	0.999457	P	0.40970	0.734	B	0.38500	0.275	T	0.14587	-1.0467	10	0.02654	T	1	.	5.5496	0.17083	0.1932:0.6873:0.0:0.1195	.	199	Q711Q0-3	.	L	199	ENSP00000318713:P199L;ENSP00000363259:P199L	ENSP00000318713:P199L	P	+	2	0	C10orf71	50201192	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	2.530000	0.85305	0.561000	0.74099	CCC		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		39	187	0	0	0	1	0	39	187					T	50531186	C	T	50531186	3	4	79	1	0	0	0	0	1	0	0	0	1619	623	22	2	598	2	C10orf71	10	50531186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274647	50531186	85003561	10994	21311											
DRGX	644168	broad.mit.edu	37	chr10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggccacgctggccgtgCggttactctggcagccatag	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	202					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637																																						ENST00000374139.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(604-606)cGc>cAc		dorsal root ganglia homeobox							46	55	52					10																	50574348		2113	4216	6329	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574348C>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.605G>A	10.37:g.50574348C>T	ENSP00000363254:p.Arg202His					DRGX_ENST00000434016.1_Missense_Mutation_p.R207H	p.R202H			C9JW76	C9JW76_HUMAN			6	615	-			207						Missense_Mutation	SNP	ENST00000374139.2	37	c.605G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.366093	0.95900	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.96554	-4.05;-4.05	5.54	5.54	0.83059	.	0.107337	0.64402	D	0.000003	D	0.96725	0.8931	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	.	19.4819	0.95013	0.0:1.0:0.0:0.0	.	207	C9JW76	.	H	202;207	ENSP00000363254:R202H;ENSP00000401653:R207H	ENSP00000363254:R202H	R	-	2	0	DRGX	50244354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.746000	0.68681	2.595000	0.87683	0.655000	0.94253	CGC		0.637	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		103	354	0	0	0	1	0	103	354					T	50574348	C	T	50574348	3	4	79	1	0	0	0	0	1	0	0	0	4779	768	27	1	189	1	DRGX	10	50574348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43162	50574348	84960399	10995	21312											
DRGX	644168	broad.mit.edu	37	chr10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaagagtgattgccaaAggttgcagtgcctaccaaga	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	16					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567																																						ENST00000374139.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(46-48)Ttt>Att		dorsal root ganglia homeobox							36	37	37					10																	50599296		1907	4111	6018	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50599296A>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.46T>A	10.37:g.50599296A>T	ENSP00000363254:p.Phe16Ile					DRGX_ENST00000434016.1_Missense_Mutation_p.F21I	p.F16I			C9JW76	C9JW76_HUMAN			2	56	-			21						Missense_Mutation	SNP	ENST00000374139.2	37	c.46T>A		.	.	.	.	.	.	.	.	.	.	A	25.9	4.687933	0.88639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95518	-3.73;-2.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.95023	0.8162	10	0.34782	T	0.22	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	21	C9JW76	.	I	16;21	ENSP00000363254:F16I;ENSP00000401653:F21I	ENSP00000363254:F16I	F	-	1	0	DRGX	50269302	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.575000	0.90766	2.224000	0.72417	0.459000	0.35465	TTT		0.567	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		17	84	0	0	0	1	0	17	84					T	50599296	A	T	50599296	3	4	79	1	0	0	0	0	1	0	0	0	4779	72	3	5	764	5	DRGX	10	50599296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24948	50599296	84935451	10996	21313											
ERCC6	2074	broad.mit.edu	37	chr10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccttctttttagatggCatttgggtgtctgaacatct	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1034					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGATGGCATTTGGGTGT	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3100-3102)tGc>tAc	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							121	123	122					10																	50678905		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678905C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3101G>A	10.37:g.50678905C>T	ENSP00000348089:p.Cys1034Tyr					RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	p.C1034Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3179	-			1034					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3101G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506884	0.00992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82167	-1.58;-1.32	5.95	0.313	0.15842	.	.	.	.	.	T	0.66268	0.2772	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.16802	0.016;0.019	B;B	0.09377	0.002;0.004	T	0.50092	-0.8868	9	0.27785	T	0.31	0.0041	4.9369	0.13944	0.1424:0.4866:0.0:0.371	.	1034;411	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1034;411;404	ENSP00000348089:C1034Y;ENSP00000445134:C404Y	ENSP00000348089:C1034Y	C	-	2	0	ERCC6	50348911	0.524000	0.26282	0.194000	0.23346	0.516000	0.34256	-0.170000	0.09897	0.126000	0.18424	0.655000	0.94253	TGC		0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		118	610	0	0	0	1	0	118	610					T	50678905	C	T	50678905	3	4	79	1	0	0	0	0	1	0	0	0	5235	710	25	2	1396	2	ERCC6	10	50678905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79609	50678905	84855842	10997	21314											
PGBD3	267004	broad.mit.edu	37	chr10	50724850	50724850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttttgtcattttcctcCtccttgatggtggaggttgc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50724850C>A	ENST00000374127.3	-	2	512	c.311G>T	c.(310-312)aGg>aTg	p.R104M	PGBD3_ENST00000508005.2_Missense_Mutation_p.R104M|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R572M|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R572M|PGBD3_ENST00000603152.1_Missense_Mutation_p.R572M	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	104										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATTTTCCTCCTCCTTGATGG	0.453																																						ENST00000515869.1																			0											c.(1714-1716)aGg>aTg									120	113	115					10																	50724850		2203	4300	6503	SO:0001583	missense	0							g.chr10:50724850C>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.311G>T	10.37:g.50724850C>A	ENSP00000363242:p.Arg104Met					PGBD3_ENST00000374127.3_Missense_Mutation_p.R104M|PGBD3_ENST00000603152.1_Missense_Mutation_p.R572M|PGBD3_ENST00000508005.2_Missense_Mutation_p.R104M|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R572M|ERCC6_ENST00000355832.5_Intron	p.R572M	NM_001277059.1	NP_001263988.1					6	1835	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1715G>T	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	7.302	0.613294	0.14066	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18502	2.21;2.21;3.13;3.13	0.468	-0.558	0.11796	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.21220	N	0.999754	P;B	0.50819	0.939;0.004	B;B	0.38880	0.284;0.0	T	0.25882	-1.0119	8	0.46703	T	0.11	-28.964	.	.	.	.	572;104	E7EV46;Q8N328	.;PGBD3_HUMAN	M	104;104;572;572	ENSP00000363242:R104M;ENSP00000426963:R104M;ENSP00000423550:R572M;ENSP00000387966:R572M	ENSP00000387966:R572M	R	-	2	0	PGBD3;RP11-123B3.6	50394856	0.960000	0.32886	0.042000	0.18584	0.037000	0.13140	0.100000	0.15231	-0.344000	0.08338	-0.339000	0.08088	AGG		0.453	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			113	436	1	0	3.30846e-59	1	4.15322e-59	113	436					A	50724850	C	A	50724850	3	1	79	1	0	0	0	0	1	0	0	0	11824	681	24	3	1474	3	PGBD3	10	50724850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45945	50724850	84809897	10998	21315											
SLC18A3	6572	broad.mit.edu	37	chr10	50819143	50819143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctaccctacggagagCgaagacgtgaagatcggggt	14	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	119					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(355-357)agC>agT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							78	79	79					10																	50819143		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819143C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.357C>T	10.37:g.50819143C>T						CHAT_ENST00000339797.1_Intron	p.S119S	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	797	+			119					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.357C>T	CCDS7231.1																																																																																				0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		55	550	0	0	0	1	0	55	550					T	50819143	C	T	50819143	2	4	79	1	0	0	0	0	0	0	0	1	14477	767	27	1		1	SLC18A3	10	50819143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94293	50819143	84715604	10999	21316											
SLC18A3	6572	broad.mit.edu	37	chr10	50819427	50819427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggagcgcagtcgtgcacTgggcgtggcgctggccttca	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819427T>C	ENST00000374115.3	+	1	1081	c.641T>C	c.(640-642)cTg>cCg	p.L214P	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	214					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGTCGTGCACTGGGCGTGGCG	0.667																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(640-642)cTg>cCg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							29	35	33					10																	50819427		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819427T>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.641T>C	10.37:g.50819427T>C	ENSP00000363229:p.Leu214Pro					CHAT_ENST00000339797.1_Intron	p.L214P	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1081	+			214					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.641T>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230827	0.79688	.	.	ENSG00000187714	ENST00000374115	T	0.61040	0.14	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	U	0.000064	T	0.79764	0.4502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.87932	D	0	-1.6294	15.1805	0.72952	0.0:0.0:0.0:1.0	.	214	Q16572	VACHT_HUMAN	P	214	ENSP00000363229:L214P	ENSP00000363229:L214P	L	+	2	0	SLC18A3	50489433	1.000000	0.71417	0.957000	0.39632	0.966000	0.64601	7.846000	0.86887	1.994000	0.58287	0.459000	0.35465	CTG		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		5	126	0	0	0	1	0	5	126					C	50819427	T	C	50819427	3	2	79	1	0	0	0	0	1	0	0	0	14477	1580	55	4	643	4	SLC18A3	10	50819427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	50819427	84715320	11000	21317											
SLC18A3	6572	broad.mit.edu	37	chr10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactgctgcccacgctcGccttcctggtggacgtgcgc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1216-1218)Gcc>Acc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							46	42	43					10																	50820002		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820002G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1216G>A	10.37:g.50820002G>A	ENSP00000363229:p.Ala406Thr					CHAT_ENST00000339797.1_Intron	p.A406T	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1656	+			406					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1216G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	SLC18A3	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC		0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		19	197	0	0	0	1	0	19	197					A	50820002	G	A	50820002	3	1	79	1	0	0	0	0	1	0	0	0	14477	1087	38	1	1218	1	SLC18A3	10	50820002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	50820002	84714745	11001	21318											
CHAT	1103	broad.mit.edu	37	chr10	50835752	50835752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggcttccaacgaggaCgagcgtttgcctccaattgg	11	10	0	0	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000337653.2	+	7	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	344					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCAACGAGGACGAGCGTTTGC	0.552																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(784-786)gaC>gaT		choline O-acetyltransferase	Choline(DB00122)	C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	145	121	129		678,786,678,1032,678,678,678	-8.2	0.6	10	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,,	226/631,262/667,226/631,344/749,226/631,226/631,226/631	50835752	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835752C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1032C>T	10.37:g.50835752C>T						CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000337653.2_Silent_p.D344D|CHAT_ENST00000395559.2_Silent_p.D226D	p.D262D	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1255	+		all_neural(218;0.107)	344	GQ -> PE (in Ref. 1; AAA14245).				A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.786C>T	CCDS7232.1																																																																																				0.552	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		129	516	0	0	0	1	0	129	516					T	50835752	C	T	50835752	2	4	79	1	0	0	0	0	0	0	0	1	3322	535	19	1		1	CHAT	10	50835752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15750	50835752	84698995	11002	21319											
CHAT	1103	broad.mit.edu	37	chr10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacggcggaggctacaGcaagaacggggccaatcgct	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000337653.2	+	8	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	414					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAGGCTACAGCAAGAACGGG	0.632																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(994-996)aGc>aTc		choline O-acetyltransferase	Choline(DB00122)						80	68	72					10																	50854680		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854680G>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1241G>T	10.37:g.50854680G>T	ENSP00000337103:p.Ser414Ile					CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000337653.2_Missense_Mutation_p.S414I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I	p.S332I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1464	+		all_neural(218;0.107)	414					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.995G>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.46	5.46	0.80206	.	0.273852	0.41823	D	0.000806	D	0.82710	0.5096	N	0.20986	0.625	0.32519	N	0.536469	B;P	0.49635	0.314;0.926	B;P	0.45377	0.129;0.478	D	0.85254	0.1046	10	0.40728	T	0.16	-21.1977	10.4463	0.44497	0.1195:0.0:0.8805:0.0	.	296;414	F8W8I2;P28329	.;CLAT_HUMAN	I	296;296;296;414;332;296	ENSP00000343486:S296I;ENSP00000345878:S296I;ENSP00000378926:S296I;ENSP00000337103:S414I;ENSP00000378929:S332I;ENSP00000390521:S296I	ENSP00000337103:S414I	S	+	2	0	CHAT	50524686	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.560000	0.53763	2.569000	0.86673	0.655000	0.94253	AGC		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		54	257	1	0	6.14515e-18	1	6.80267e-18	54	257					T	50854680	G	T	50854680	3	4	79	1	0	0	0	0	1	0	0	0	3322	971	34	3	1315	3	CHAT	10	50854680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18928	50854680	84680067	11003	21320											
CHAT	1103	broad.mit.edu	37	chr10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccttcatccaggtggccCtccagctggccttctacagg	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000337653.2	+	11	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	539					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCAGGTGGCCCTCCAGCTGGC	0.488																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1369-1371)Ctc>Atc		choline O-acetyltransferase	Choline(DB00122)						74	72	73					10																	50860033		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50860033C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1615C>A	10.37:g.50860033C>A	ENSP00000337103:p.Leu539Ile					CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000337653.2_Missense_Mutation_p.L539I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I	p.L457I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1838	+		all_neural(218;0.107)	539					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1369C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440163	0.63067	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000009	D	0.93331	0.7874	L	0.60845	1.875	0.58432	D	0.999996	P;P	0.48016	0.904;0.761	P;P	0.57679	0.795;0.825	D	0.93744	0.7053	10	0.56958	D	0.05	-19.8669	17.9506	0.89052	0.0:1.0:0.0:0.0	.	421;539	F8W8I2;P28329	.;CLAT_HUMAN	I	421;421;421;539;457;421	ENSP00000343486:L421I;ENSP00000345878:L421I;ENSP00000378926:L421I;ENSP00000337103:L539I;ENSP00000378929:L457I;ENSP00000390521:L421I	ENSP00000337103:L539I	L	+	1	0	CHAT	50530039	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.675000	0.61619	2.242000	0.73789	0.561000	0.74099	CTC		0.488	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		11	180	1	0	3.86212e-05	1	3.93988e-05	11	180					A	50860033	C	A	50860033	3	1	79	1	0	0	0	0	1	0	0	0	3322	681	24	3	1701	3	CHAT	10	50860033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5353	50860033	84674714	11004	21321											
OGDHL	55753	broad.mit.edu	37	chr10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccctgggcatctccaCggtagaactgctctgccttt	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					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)			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						GGCATCTCCACGGTAGAACTG	0.642																																						ENST00000374103.4																			0				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						c.(1144-1146)cGt>cAt		oxoglutarate dehydrogenase-like							178	156	164					10																	50955097		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955097C>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.1145G>A	10.37:g.50955097C>T	ENSP00000363216:p.Arg382His					OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	p.R382H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1230	-			382					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1145G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160670	0.57368	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.14640	2.49;2.49;3.34	5.97	5.07	0.68467	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	L	0.58969	1.84	0.80722	D	1	B;B;P	0.41420	0.305;0.052;0.749	B;B;B	0.34652	0.118;0.083;0.187	T	0.03587	-1.1022	10	0.31617	T	0.26	.	15.1812	0.72960	0.0:0.9326:0.0:0.0674	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	382;325;173	ENSP00000363216:R382H;ENSP00000401356:R325H;ENSP00000390240:R173H	ENSP00000363216:R382H	R	-	2	0	OGDHL	50625103	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	7.574000	0.82434	1.542000	0.49330	0.655000	0.94253	CGT		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		79	361	0	0	0	1	0	79	361					T	50955097	C	T	50955097	3	4	79	1	0	0	0	0	1	0	0	0	10882	536	19	1	1947	1	OGDHL	10	50955097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95064	50955097	84579650	11005	21322											
AGAP7	653268	broad.mit.edu	37	chr10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggttgagcttggggatgGtggtgctggagatactgggg	22	4	0	2	rs77023418	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		362	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1084-1086)aCc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							70	85	80					10																	51465371		2200	4282	6482	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465371G>A																												ENST00000374095.5:c.1085C>T	10.37:g.51465371G>A	ENSP00000363208:p.Thr362Ile						p.T362I	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1210	-			362			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1085C>T	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113683	0.37339	.	.	ENSG00000204169	ENST00000374095	T	0.55052	0.54	.	.	.	Pleckstrin homology domain (3);	0.394968	0.26765	N	0.022613	T	0.50871	0.1641	M	0.64997	1.995	0.43133	D	0.994876	P	0.48230	0.907	P	0.48738	0.588	T	0.45131	-0.9282	9	0.44086	T	0.13	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	362	Q5VUJ5	AGAP7_HUMAN	I	362	ENSP00000363208:T362I	ENSP00000363208:T362I	T	-	2	0	AGAP7	51135377	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	3.648000	0.54410	0.172000	0.19760	0.175000	0.17021	ACC		0.522	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			196	808	0	0	0	1	0	196	808					A	51465371	G	A	51465371	3	1	79	1	0	0	0	0	1	0	0	0	373	1261	44	2	910	2	AGAP7	10	51465371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	510274	51465371	84069376	11006	21323											
AGAP7	653268	broad.mit.edu	37	chr10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgcaggccaatgtggCtagggatggccactttcctg	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(973-975)Gcc>Acc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							134	158	150					10																	51465483		2197	4297	6494	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465483C>T																												ENST00000374095.5:c.973G>A	10.37:g.51465483C>T	ENSP00000363208:p.Ala325Thr						p.A325T	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1098	-			325			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.973G>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400457	0.42613	.	.	ENSG00000204169	ENST00000374095	T	0.56776	0.44	.	.	.	Pleckstrin homology domain (3);	0.064498	0.64402	D	0.000011	T	0.65123	0.2661	M	0.79693	2.465	0.36548	D	0.871687	D	0.53462	0.96	D	0.63703	0.917	T	0.66520	-0.5903	9	0.51188	T	0.08	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	325	Q5VUJ5	AGAP7_HUMAN	T	325	ENSP00000363208:A325T	ENSP00000363208:A325T	A	-	1	0	AGAP7	51135489	0.967000	0.33354	0.011000	0.14972	0.011000	0.07611	2.985000	0.49362	0.172000	0.19760	0.175000	0.17021	GCC		0.463	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			259	1028	0	0	0	1	0	259	1028					T	51465483	C	T	51465483	3	4	79	1	0	0	0	0	1	0	0	0	373	797	28	2	1022	2	AGAP7	10	51465483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51465483	84069264	11007	21324											
NCOA4	8031	broad.mit.edu	37	chr10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatttcttcaataatgtcGggggaaacctaaagggctta	10	7	2	0	rs373872053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000443446.1	+	8	980	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	251					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.G267W(1)	lung(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(799-801)Ggg>Agg		nuclear receptor coactivator 4							56	60	59					10																	51584652		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584652G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.751G>A	10.37:g.51584652G>A	ENSP00000390713:p.Gly251Arg					NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G251R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR	p.G267R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1051	+			251					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.799G>A	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.62|14.62	2.591007|2.591007	0.46214|0.46214	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.054224|.	0.85682|.	D|.	0.000000|.	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.28431|0.28431	N|N	0.917286|0.917286	B;B;B;P|.	0.40083|.	0.233;0.107;0.107;0.702|.	B;B;B;B|.	0.31245|.	0.007;0.007;0.007;0.126|.	T|T	0.17198|0.17198	-1.0377|-1.0377	10|5	0.59425|.	D|.	0.04|.	-29.3647|-29.3647	13.562|13.562	0.61795|0.61795	0.0:0.0:0.1311:0.8689|0.0:0.0:0.1311:0.8689	.|.	151;267;267;251|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	R|Q	267;267;151;251;85;251;251;251|166	ENSP00000405146:G267R;ENSP00000395465:G267R;ENSP00000393053:G151R;ENSP00000363200:G251R;ENSP00000411018:G85R;ENSP00000344552:G251R;ENSP00000363195:G251R;ENSP00000390713:G251R|.	ENSP00000344552:G251R|.	G|R	+|+	1|2	0|0	NCOA4|NCOA4	51254658|51254658	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.704000|0.704000	0.40688|0.40688	5.510000|5.510000	0.67018|0.67018	1.104000|1.104000	0.41587|0.41587	-0.256000|-0.256000	0.11100|0.11100	GGG|CGG		0.388	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		102	400	0	0	0	1	0	102	400					A	51584652	G	A	51584652	3	1	79	1	0	0	0	0	1	0	0	0	10273	1116	39	1	829	1	NCOA4	10	51584652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	51584652	83950095	11008	21325											
AGAP6	414189	broad.mit.edu	37	chr10	51748543	51748543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgaccagcagcaggggtCggtgtgtccctctgaatctg	14	10	2	2	rs544067964	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51748543C>T	ENST00000374056.4	+	1	466	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP6_ENST00000412531.3_Missense_Mutation_p.S23L			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAGCAGGGGTCGGTGTGTCCC	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		16063	0.0		0.0	False		,,,				2504	0.0031					ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(67-69)tCg>tTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748543C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.68C>T	10.37:g.51748543C>T	ENSP00000363168:p.Ser23Leu					AGAP6_ENST00000412531.3_Missense_Mutation_p.S23L	p.S23L			C9IYN2	C9IYN2_HUMAN			1	466	+			23						Missense_Mutation	SNP	ENST00000374056.4	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	0.060	-1.227393	0.01518	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.87966	-2.32;-2.32	1.16	1.16	0.20824	.	0.121832	0.53938	D	0.000058	T	0.69324	0.3098	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52873	-0.8517	10	0.18276	T	0.48	.	5.7414	0.18096	0.0:1.0:0.0:0.0	.	23	C9IYN2	.	L	23	ENSP00000363168:S23L;ENSP00000400972:S23L	ENSP00000363168:S23L	S	+	2	0	AGAP6	51418549	0.001000	0.12720	0.310000	0.25168	0.024000	0.10985	0.593000	0.23999	0.958000	0.37956	0.175000	0.17021	TCG		0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		86	205	0	0	0	1	0	86	205					T	51748543	C	T	51748543	3	4	79	1	0	0	0	0	1	0	0	0	372	893	31	1	70	1	AGAP6	10	51748543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163891	51748543	83786204	11009	21326											
AGAP6	414189	broad.mit.edu	37	chr10	51768812	51768812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacgtcaccctgtgttcCaatggcatgctcacctatta	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51768812C>T	ENST00000374056.4	+	7	1256	c.858C>T	c.(856-858)tcC>tcT	p.S286S	AGAP6_ENST00000412531.3_Silent_p.S309S			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	286	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.S309S(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCTGTGTTCCAATGGCATGC	0.423																																						ENST00000374056.4																			1	Substitution - coding silent(1)	p.S309S(1)	lung(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(856-858)tcC>tcT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768812C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.858C>T	10.37:g.51768812C>T						AGAP6_ENST00000412531.3_Silent_p.S309S	p.S286S			C9IYN2	C9IYN2_HUMAN			7	1256	+			309						Silent	SNP	ENST00000374056.4	37	c.858C>T																																																																																					0.423	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		76	1737	0	0	0	1	0	76	1737					T	51768812	C	T	51768812	2	4	79	1	0	0	0	0	0	0	0	1	372	581	21	2		2	AGAP6	10	51768812	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20269	51768812	83765935	11010	21327											
SGMS1	259230	broad.mit.edu	37	chr10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtactcgttcgtggacgaccGagatcatcactgtggtgaga	13	9	2	2	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	160					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507																																						ENST00000361781.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(460-462)tCg>tTg		sphingomyelin synthase 1		G	LEU/SER	0,4406		0,0,2203	69	62	64		461	5.6	1	10	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SGMS1	NM_147156.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	154/414	52103414	1,13005	2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103414G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.461C>T	10.37:g.52103414G>A	ENSP00000354829:p.Ser154Leu					SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			7	1420	-			160					Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.461C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310062	0.81247	0.0	1.16E-4	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.45668	0.98;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.52011	1.625	0.58432	D	0.999998	D	0.57571	0.98	P	0.48488	0.579	T	0.47355	-0.9124	10	0.56958	D	0.05	-9.9208	17.1838	0.86861	0.0:0.0:1.0:0.0	.	160	Q86VZ5	SMS1_HUMAN	L	154	ENSP00000354829:S154L;ENSP00000355235:S154L	ENSP00000355235:S154L	S	-	2	0	SGMS1	51773420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.648000	0.89879	0.650000	0.86243	TCG		0.507	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		66	230	0	0	0	1	0	66	230					A	52103414	G	A	52103414	3	1	79	1	0	0	0	0	1	0	0	0	14264	1059	37	1	800	1	SGMS1	10	52103414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334602	52103414	83431333	11011	21328											
A1CF	29974	broad.mit.edu	37	chr10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagcagtttcctcctcGccatggcagctgctcgatga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000395489.2																			4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(562-564)gCg>gTg		APOBEC1 complementation factor							106	96	100					10																	52595854		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595854G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.584C>T	10.37:g.52595854G>A	ENSP00000363105:p.Ala195Val					A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	p.A188V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	959	-			195			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.563C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		39	416	0	0	0	1	0	39	416					A	52595854	G	A	52595854	3	1	79	1	0	0	0	0	1	0	0	0	2	1087	38	1	1232	1	A1CF	10	52595854	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492440	52595854	82938893	11012	21329											
A1CF	29974	broad.mit.edu	37	chr10	52595869	52595869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcgccatggcagctgctCgatgactctcatactccacg	8	16	1	1	rs200365066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	ENST00000373993.1	-	4	613	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q|A1CF_ENST00000374001.2_Missense_Mutation_p.R190Q|A1CF_ENST00000395489.2_Missense_Mutation_p.R183Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCAGCTGCTCGATGACTCTC	0.498																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(547-549)cGa>cAa		APOBEC1 complementation factor							110	101	104					10																	52595869		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595869C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.569G>A	10.37:g.52595869C>T	ENSP00000363105:p.Arg190Gln					A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R190Q|A1CF_ENST00000374001.1_Missense_Mutation_p.R190Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q	p.R183Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	944	-			190			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.548G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291523	0.80914	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.43598	1.365	0.80722	D	1	P;P;D;B	0.58620	0.787;0.666;0.983;0.439	B;B;P;B	0.52424	0.197;0.298;0.698;0.07	T	0.00076	-1.2119	10	0.52906	T	0.07	-6.6783	18.0887	0.89466	0.0:1.0:0.0:0.0	.	183;190;190;198	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	190;190;190;198;190;190;173;183;190	ENSP00000363113:R190Q;ENSP00000363105:R190Q;ENSP00000363109:R190Q;ENSP00000363107:R198Q;ENSP00000282641:R190Q;ENSP00000378873:R190Q;ENSP00000378868:R183Q;ENSP00000397953:R190Q	ENSP00000282641:R190Q	R	-	2	0	A1CF	52265875	1.000000	0.71417	0.049000	0.19019	0.287000	0.27160	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	CGA		0.498	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		34	468	0	0	0	1	0	34	468					T	52595869	C	T	52595869	3	4	79	1	0	0	0	0	1	0	0	0	2	884	31	1	1247	1	A1CF	10	52595869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	52595869	82938878	11013	21330											
PCDH15	65217	broad.mit.edu	37	chr10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttggcaaagtggagaatgaGaagtgaggcctgggaaagca	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000320301.6	-	33	5401	c.5007C>A	c.(5005-5007)ttC>ttA	p.F1669L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1671L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5011-5013)ttC>ttA		protocadherin-related 15							144	142	143					10																	55582479		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582479G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5007C>A	10.37:g.55582479G>T	ENSP00000322604:p.Phe1669Leu	HNSCC(58;0.16)				PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1669L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L	p.F1671L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5407	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1669					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5013C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695374	0.30052	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54479	0.6;0.57;0.61;0.58;0.58;0.6	4.95	1.56	0.23342	.	.	.	.	.	T	0.31918	0.0812	N	0.19112	0.55	0.25252	N	0.989667	B;B;B;B;B;B;B;B	0.25850	0.136;0.039;0.039;0.064;0.002;0.039;0.136;0.039	B;B;B;B;B;B;B;B	0.25759	0.063;0.039;0.039;0.028;0.003;0.039;0.055;0.039	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.3863	0.21561	0.5148:0.0:0.4852:0.0	.	1646;1669;1671;1676;1600;1629;1666;1669	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1629;1671;1646;1669;1666;1676;1600	ENSP00000378820:F1629L;ENSP00000354950:F1671L;ENSP00000378821:F1646L;ENSP00000322604:F1669L;ENSP00000378818:F1666L;ENSP00000412628:F1600L	ENSP00000322604:F1669L	F	-	3	2	PCDH15	55252485	0.992000	0.36948	0.808000	0.32385	0.419000	0.31324	0.704000	0.25661	0.480000	0.27534	0.655000	0.94253	TTC		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		96	460	1	0	1.31735e-33	1	1.56243e-33	96	460					T	55582479	G	T	55582479	3	4	79	1	0	0	0	0	1	0	0	0	11553	933	33	3	2470	3	PCDH15	10	55582479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986610	55582479	79952268	11014	21331											
PCDH15	65217	broad.mit.edu	37	chr10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattgagctgtctccaagttCttcatagagatgcgcacctg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000320301.6	-	32	4742	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1457K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1450					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCCAAGTTCTTCATAGAGA	0.552										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4369-4371)Gaa>Aaa		protocadherin-related 15							58	63	61					10																	55587172		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587172C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4348G>A	10.37:g.55587172C>T	ENSP00000322604:p.Glu1450Lys	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1450K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K	p.E1457K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4763	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1450					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4369G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692534	0.96793	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.65549	0.38;0.4;0.23;0.08;0.27;-0.05;-0.09;-0.02;-0.1;-0.11;-0.16	5.64	5.64	0.86602	.	.	.	.	.	T	0.77698	0.4169	L	0.61218	1.895	0.58432	D	0.999999	P;P;P;P;P;P;P;D;D;D;D;D;P	0.71674	0.773;0.919;0.864;0.749;0.946;0.864;0.773;0.998;0.995;0.997;0.997;0.995;0.919	B;P;B;B;P;B;B;D;P;D;P;P;P	0.79784	0.354;0.507;0.407;0.284;0.776;0.407;0.354;0.993;0.872;0.91;0.872;0.9;0.507	T	0.78687	-0.2107	9	0.87932	D	0	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	1425;1450;1450;1455;1379;1410;1447;1450;1457;1457;1450;1452;1450	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1457;1452;1450;1450;1061;1457;1410;1450;1425;1450;1447;1455;1379	ENSP00000363076:E1457K;ENSP00000410304:E1452K;ENSP00000378826:E1450K;ENSP00000386693:E1061K;ENSP00000378832:E1457K;ENSP00000378820:E1410K;ENSP00000354950:E1450K;ENSP00000378821:E1425K;ENSP00000322604:E1450K;ENSP00000378818:E1447K;ENSP00000412628:E1379K	ENSP00000322604:E1450K	E	-	1	0	PCDH15	55257178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.840000	0.75369	2.807000	0.96579	0.591000	0.81541	GAA		0.552	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		111	558	0	0	0	1	0	111	558					T	55587172	C	T	55587172	3	4	79	1	0	0	0	0	1	0	0	0	11553	922	32	2	3146	2	PCDH15	10	55587172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4693	55587172	79947575	11015	21332											
PCDH15	65217	broad.mit.edu	37	chr10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgccggcgagctccaatggActccactacgaccttggcac	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000320301.6	-	29	4256	c.3862T>A	c.(3862-3864)Tcc>Acc	p.S1288T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1295T|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1288					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAATGGACTCCACTACG	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3883-3885)Tcc>Acc		protocadherin-related 15							111	100	104					10																	55600201		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600201A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3862T>A	10.37:g.55600201A>T	ENSP00000322604:p.Ser1288Thr	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1288T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T	p.S1295T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			30	4277	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1288					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3883T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455461	0.63401	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58506	0.45;0.49;0.44;0.45;0.4;0.36;0.33;0.39;0.34;0.34;0.34	5.43	5.43	0.79202	.	.	.	.	.	T	0.62974	0.2472	N	0.24115	0.695	0.80722	D	1	D;P;P;P;B;P;D;B;B;B;B;B;P	0.57257	0.979;0.719;0.589;0.589;0.224;0.719;0.979;0.025;0.131;0.131;0.052;0.172;0.589	D;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.983;0.241;0.145;0.145;0.145;0.241;0.983;0.061;0.109;0.109;0.083;0.145;0.145	T	0.61888	-0.6970	9	0.32370	T	0.25	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	1266;1288;1288;1293;1217;1251;1288;1288;1295;1295;1288;1293;1288	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1295;1293;1288;1288;899;1295;1251;1288;1266;1288;1288;1293;1217	ENSP00000363076:S1295T;ENSP00000410304:S1293T;ENSP00000378826:S1288T;ENSP00000386693:S899T;ENSP00000378832:S1295T;ENSP00000378820:S1251T;ENSP00000354950:S1288T;ENSP00000378821:S1266T;ENSP00000322604:S1288T;ENSP00000378818:S1288T;ENSP00000412628:S1217T	ENSP00000322604:S1288T	S	-	1	0	PCDH15	55270207	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.059000	0.64306	2.182000	0.69389	0.472000	0.43445	TCC		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		71	283	0	0	0	1	0	71	283					T	55600201	A	T	55600201	3	4	79	1	0	0	0	0	1	0	0	0	11553	275	10	5	3644	5	PCDH15	10	55600201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13029	55600201	79934546	11016	21333											
PCDH15	65217	broad.mit.edu	37	chr10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaccaggaatttgtTcctgaacatagcgatccaag	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000320301.6	-	29	4224	c.3830A>C	c.(3829-3831)gAa>gCa	p.E1277A	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1284A|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1277					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAATTTGTTCCTGAACATA	0.428										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3850-3852)gAa>gCa		protocadherin-related 15							81	74	76					10																	55600233		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600233T>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3830A>C	10.37:g.55600233T>G	ENSP00000322604:p.Glu1277Ala	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1277A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A	p.E1284A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			30	4245	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1277					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3851A>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414872	0.83449	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.41;0.46;0.4;0.4;0.36;0.37;0.34;0.4;0.35;0.35;0.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.45895	0.1365	N	0.19112	0.55	0.43399	D	0.995528	P;P;P;P;P;P;P;B;P;P;P;P;P	0.49090	0.773;0.864;0.864;0.864;0.753;0.864;0.773;0.288;0.773;0.773;0.647;0.774;0.919	B;B;B;B;B;B;B;B;P;P;B;B;P	0.46389	0.257;0.345;0.345;0.345;0.345;0.345;0.257;0.242;0.515;0.515;0.345;0.345;0.496	T	0.51919	-0.8644	9	0.66056	D	0.02	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1255;1277;1277;1282;1206;1240;1277;1277;1284;1284;1277;1282;1277	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	1284;1282;1277;1277;888;1284;1240;1277;1255;1277;1277;1282;1206	ENSP00000363076:E1284A;ENSP00000410304:E1282A;ENSP00000378826:E1277A;ENSP00000386693:E888A;ENSP00000378832:E1284A;ENSP00000378820:E1240A;ENSP00000354950:E1277A;ENSP00000378821:E1255A;ENSP00000322604:E1277A;ENSP00000378818:E1277A;ENSP00000412628:E1206A	ENSP00000322604:E1277A	E	-	2	0	PCDH15	55270239	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	GAA		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		58	231	0	0	0	1	0	58	231					G	55600233	T	G	55600233	3	3	79	1	0	0	0	0	1	0	0	0	11553	1783	62	4	3676	4	PCDH15	10	55600233	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32	55600233	79934514	11017	21334											
PCDH15	65217	broad.mit.edu	37	chr10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatattatggaagagcataGcagttttgataagccctgta	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000320301.6	-	27	4014	c.3620C>A	c.(3619-3621)gCt>gAt	p.A1207D	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1214D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1207	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGAGCATAGCAGTTTTGAT	0.413										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3640-3642)gCt>gAt		protocadherin-related 15							161	141	147					10																	55626499		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626499G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3620C>A	10.37:g.55626499G>T	ENSP00000322604:p.Ala1207Asp	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1207D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D	p.A1214D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			28	4035	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1207			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3641C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003174	0.93287	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75997	0.3926	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.996;1.0;1.0;1.0;1.0;0.998;0.998;0.998;1.0;0.998	T	0.77765	-0.2465	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1185;1207;1207;1212;1136;1170;1207;1207;1214;1214;1207;1212;1207	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1214;1212;1207;1207;818;1214;1170;1207;1185;1207;1207;1212;1136	ENSP00000363076:A1214D;ENSP00000410304:A1212D;ENSP00000378826:A1207D;ENSP00000386693:A818D;ENSP00000378832:A1214D;ENSP00000378820:A1170D;ENSP00000354950:A1207D;ENSP00000378821:A1185D;ENSP00000322604:A1207D;ENSP00000378818:A1207D;ENSP00000412628:A1136D	ENSP00000322604:A1207D	A	-	2	0	PCDH15	55296505	1.000000	0.71417	0.960000	0.40013	0.957000	0.61999	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		41	398	1	0	1.49673e-21	1	1.68722e-21	41	398					T	55626499	G	T	55626499	3	4	79	1	0	0	0	0	1	0	0	0	11553	971	34	3	3894	3	PCDH15	10	55626499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26266	55626499	79908248	11018	21335											
PCDH15	65217	broad.mit.edu	37	chr10	55719536	55719536	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggatctcaccaggatgtaaGacaagaatcttcactgtggc	11	9	3	2	rs535499066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000320301.6	-	23	3472	c.3078C>A	c.(3076-3078)gtC>gtA	p.V1026V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1026	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			2	Substitution - coding silent(2)	p.V1031V(1)|p.V1026V(1)	large_intestine(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3097-3099)gtC>gtA		protocadherin-related 15							88	79	82					10																	55719536		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55719536G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3078C>A	10.37:g.55719536G>T		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000320301.6_Silent_p.V1026V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V1004V	p.V1033V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			24	3493	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1026			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3099C>A	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		50	179	1	0	2.81731e-22	1	3.18527e-22	50	179					T	55719536	G	T	55719536	2	4	79	1	0	0	0	0	0	0	0	1	11553	929	33	3		3	PCDH15	10	55719536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93037	55719536	79815211	11019	21336											
PCDH15	65217	broad.mit.edu	37	chr10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgacatctgtcaccaCtatgtttactgtggcagttg	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000320301.6	-	18	2510	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V713L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCACCACTATGTTTACT	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2137-2139)Gtg>Ttg		protocadherin-related 15							93	87	89					10																	55826621		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826621C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2116G>T	10.37:g.55826621C>A	ENSP00000322604:p.Val706Leu	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V706L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L	p.V713L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2531	-		Melanoma(3;0.117)|Lung SC(717;0.238)	706			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2137G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.19;0.72	5.85	4.94	0.65067	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	L	0.31526	0.94	0.42527	D	0.993024	D;P;D;P;D;D;D;P;D;P;P;P;D;P;D	0.65815	0.995;0.939;0.974;0.743;0.992;0.988;0.995;0.884;0.97;0.939;0.949;0.884;0.958;0.942;0.988	D;P;P;P;P;P;D;P;P;P;P;P;P;P;D	0.75484	0.986;0.81;0.81;0.51;0.855;0.9;0.986;0.78;0.868;0.826;0.719;0.78;0.607;0.816;0.932	T	0.67522	-0.5649	9	0.46703	T	0.11	.	15.3458	0.74337	0.1409:0.8591:0.0:0.0	.	684;706;706;711;635;669;706;706;713;713;706;711;706;684;706	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	713;711;706;706;317;713;669;706;684;684;706;706;711;635;706	ENSP00000363076:V713L;ENSP00000410304:V711L;ENSP00000378826:V706L;ENSP00000386693:V317L;ENSP00000378832:V713L;ENSP00000378820:V669L;ENSP00000354950:V706L;ENSP00000378821:V684L;ENSP00000363068:V684L;ENSP00000322604:V706L;ENSP00000378818:V706L;ENSP00000412628:V635L;ENSP00000363066:V706L	ENSP00000322604:V706L	V	-	1	0	PCDH15	55496627	0.997000	0.39634	0.736000	0.30914	0.971000	0.66376	3.673000	0.54591	1.465000	0.48006	0.655000	0.94253	GTG		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		63	285	1	0	4.13886e-29	1	4.83036e-29	63	285					A	55826621	C	A	55826621	3	1	79	1	0	0	0	0	1	0	0	0	11553	565	20	3	5434	3	PCDH15	10	55826621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107085	55826621	79708126	11020	21337											
PCDH15	65217	broad.mit.edu	37	chr10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtagatttaataaaacaGcaccaaccctcatggcttca	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000320301.6	-	15	2292	c.1898C>A	c.(1897-1899)gCt>gAt	p.A633D	PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A640D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATAAAACAGCACCAACCCT	0.388										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1918-1920)gCt>gAt		protocadherin-related 15							110	90	97					10																	55892654		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892654G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1898C>A	10.37:g.55892654G>T	ENSP00000322604:p.Ala633Asp	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A633D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D	p.A640D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			16	2313	-		Melanoma(3;0.117)|Lung SC(717;0.238)	633			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1919C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721110	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64940	0.2644	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.987;1.0;1.0;1.0;1.0;0.999;1.0;0.972;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.985;0.966;1.0;1.0;0.998;0.995;0.992;0.998;0.946;0.996;0.992;0.998	T	0.60229	-0.7304	9	0.41790	T	0.15	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	611;633;633;638;596;633;633;640;640;633;638;633;611;633	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	640;638;633;633;244;640;633;596;633;611;611;633;633;638;633	ENSP00000363076:A640D;ENSP00000410304:A638D;ENSP00000378826:A633D;ENSP00000386693:A244D;ENSP00000378832:A640D;ENSP00000378833:A633D;ENSP00000378820:A596D;ENSP00000354950:A633D;ENSP00000378821:A611D;ENSP00000363068:A611D;ENSP00000322604:A633D;ENSP00000378818:A633D;ENSP00000363066:A633D	ENSP00000322604:A633D	A	-	2	0	PCDH15	55562660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.438000	0.97539	2.838000	0.97847	0.591000	0.81541	GCT		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	111	1	0	1.50039e-11	1	1.60151e-11	20	111					T	55892654	G	T	55892654	3	4	79	1	0	0	0	0	1	0	0	0	11553	971	34	3	5664	3	PCDH15	10	55892654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66033	55892654	79642093	11021	21338											
PCDH15	65217	broad.mit.edu	37	chr10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacgagtgtttggcacaAggacacaaggaagaaacatt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000320301.6	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	270					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGGCACAAGGACACAAGG	0.463										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(808-810)cTt>cGt		protocadherin-related 15							185	143	157					10																	56077098		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56077098A>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.809T>G	10.37:g.56077098A>C	ENSP00000322604:p.Leu270Arg	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000320301.6_Missense_Mutation_p.L270R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R	p.L270R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1203	-		Melanoma(3;0.117)|Lung SC(717;0.238)	270					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.809T>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204285	0.58234	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.31;0.33;0.26;0.28;0.32;0.55;0.46;0.23;0.15;0.19;0.18;0.15;0.15;0.23;0.36	4.77	4.77	0.60923	.	.	.	.	.	T	0.68118	0.2966	L	0.48362	1.52	0.32019	N	0.600995	D;P;P;B;D;P;D;D;P;B;D;D;D;D;P	0.76494	0.997;0.866;0.506;0.199;0.997;0.866;0.997;0.991;0.506;0.307;0.999;0.999;0.979;0.999;0.506	D;P;B;B;D;P;D;D;B;B;D;D;D;D;B	0.72338	0.958;0.521;0.217;0.099;0.968;0.521;0.958;0.954;0.292;0.217;0.968;0.977;0.951;0.968;0.217	T	0.70063	-0.4975	9	0.30078	T	0.28	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	248;270;270;275;270;233;270;270;270;270;270;275;270;248;270	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	270;275;270;270;270;270;270;270;233;270;248;248;270;270;275;270;270	ENSP00000363076:L270R;ENSP00000410304:L275R;ENSP00000378826:L270R;ENSP00000378832:L270R;ENSP00000378833:L270R;ENSP00000378829:L270R;ENSP00000378827:L270R;ENSP00000378820:L233R;ENSP00000354950:L270R;ENSP00000378821:L248R;ENSP00000363068:L248R;ENSP00000322604:L270R;ENSP00000378818:L270R;ENSP00000412628:L270R;ENSP00000363066:L270R	ENSP00000322604:L270R	L	-	2	0	PCDH15	55747104	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	7.394000	0.79862	1.901000	0.55032	0.455000	0.32223	CTT		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		58	525	0	0	0	1	0	58	525					C	56077098	A	C	56077098	3	2	79	1	0	0	0	0	1	0	0	0	11553	72	3	4	6806	4	PCDH15	10	56077098	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184444	56077098	79457649	11022	21339											
PCDH15	65217	broad.mit.edu	37	chr10	56128916	56128916	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagtagctttcatgcttgaaAgtgggtgagttgtcattcct	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56128916A>T	ENST00000320301.6	-	5	832	c.438T>A	c.(436-438)acT>acA	p.T146T	PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000373965.2_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGCTTGAAAGTGGGTGAGT	0.403										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(436-438)acT>acA		protocadherin-related 15							166	127	140					10																	56128916		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56128916A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.438T>A	10.37:g.56128916A>T		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000320301.6_Silent_p.T146T|PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T	p.T146T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	832	-		Melanoma(3;0.117)|Lung SC(717;0.238)	146			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.438T>A	CCDS7248.1																																																																																				0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		49	211	0	0	0	1	0	49	211					T	56128916	A	T	56128916	2	4	79	1	0	0	0	0	0	0	0	1	11553	59	3	5		5	PCDH15	10	56128916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51818	56128916	79405831	11023	21340											
PCDH15	65217	broad.mit.edu	37	chr10	56129000	56129000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttttgttgatgcactgGacctgcaccacaatggagtg	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000320301.6	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000373965.2_Silent_p.V118V|PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATGCACTGGACCTGCACCA	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(352-354)gtC>gtT		protocadherin-related 15							129	103	112					10																	56129000		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56129000G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.354C>T	10.37:g.56129000G>A		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000320301.6_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395433.1_Silent_p.V96V	p.V118V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	748	-		Melanoma(3;0.117)|Lung SC(717;0.238)	118			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.354C>T	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		44	171	0	0	0	1	0	44	171					A	56129000	G	A	56129000	2	1	79	1	0	0	0	0	0	0	0	1	11553	1161	41	2		2	PCDH15	10	56129000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	56129000	79405747	11024	21341											
ZWINT	11130	broad.mit.edu	37	chr10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctctgcctcagcctcaGcctcagggaacaacagctta	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	228					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(682-684)gCt>gAt		ZW10 interacting kinetochore protein							55	53	54					10																	58118426		2203	4300	6503	SO:0001583	missense	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118426G>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.683C>A	10.37:g.58118426G>T	ENSP00000363055:p.Ala228Asp					ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D	p.A228D			O95229	ZWINT_HUMAN			7	721	-			228					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.683C>A	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978392	0.53720	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.73	2.78	0.32641	.	0.750699	0.11474	N	0.560436	T	0.53883	0.1824	L	0.60455	1.87	0.09310	N	1	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.45352	-0.9267	10	0.72032	D	0.01	-11.8392	8.9761	0.35937	0.0:0.2273:0.7727:0.0	.	181;228	A6NNV6;O95229	.;ZWINT_HUMAN	D	228;228;108;181	ENSP00000363055:A228D;ENSP00000378801:A228D;ENSP00000322850:A108D;ENSP00000354921:A181D	ENSP00000322850:A108D	A	-	2	0	ZWINT	57788432	0.023000	0.18921	0.029000	0.17559	0.013000	0.08279	2.383000	0.44354	1.085000	0.41206	0.563000	0.77884	GCT		0.537	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			67	268	1	0	1.41401e-22	1	1.60156e-22	67	268					T	58118426	G	T	58118426	3	4	79	1	0	0	0	0	1	0	0	0	18302	971	34	3	158	3	ZWINT	10	58118426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1989426	58118426	77416321	11025	21342											
ZWINT	11130	broad.mit.edu	37	chr10	58118706	58118706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagatgctgcagatgcttCtcctgccaggagtgagcatg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000361148.6_Silent_p.E161E			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(481-483)gaG>gaA		ZW10 interacting kinetochore protein							64	62	63					10																	58118706		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118706C>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.483G>A	10.37:g.58118706C>T						ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000361148.6_Silent_p.E161E	p.E161E			O95229	ZWINT_HUMAN			6	521	-			161					A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	37	c.483G>A	CCDS7249.1																																																																																				0.542	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			67	337	0	0	0	1	0	67	337					T	58118706	C	T	58118706	2	4	79	1	0	0	0	0	0	0	0	1	18302	912	32	2		2	ZWINT	10	58118706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	58118706	77416041	11026	21343											
UBE2D1	7321	broad.mit.edu	37	chr10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcactgttcagctggacCtgtgggagatgactgtaagc	13	9	2	2	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383																																						ENST00000373910.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						c.(73-75)cCt>cAt		ubiquitin-conjugating enzyme E2D 1							157	147	150					10																	60121147		2203	4300	6503	SO:0001583	missense	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60121147C>A	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.74C>A	10.37:g.60121147C>A	ENSP00000363019:p.Pro25His						p.P25H	NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN			2	301	+			25					A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	c.74C>A	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904294	0.92035	.	.	ENSG00000072401	ENST00000373910	T	0.60171	0.21	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88960	0.3393	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	25	P51668	UB2D1_HUMAN	H	25	ENSP00000363019:P25H	ENSP00000363019:P25H	P	+	2	0	UBE2D1	59791153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.885000	0.99019	0.655000	0.94253	CCT		0.383	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		74	373	1	0	3.82405e-32	1	4.51337e-32	74	373					A	60121147	C	A	60121147	3	1	79	1	0	0	0	0	1	0	0	0	16902	681	24	3	80	3	UBE2D1	10	60121147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2002441	60121147	75413600	11027	21344											
BICC1	80114	broad.mit.edu	37	chr10	60588555	60588555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaaagctttttgaatcGccaaatgcacgcacctcttt	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468																																						ENST00000373886.3																			1	Substitution - coding silent(1)	p.S943S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(2827-2829)tcG>tcA		bicaudal C homolog 1 (Drosophila)							91	83	86					10																	60588555		2203	4300	6503	SO:0001819	synonymous_variant	80114				multicellular organismal development		RNA binding	g.chr10:60588555G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2829G>A	10.37:g.60588555G>A							p.S943S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			21	2833	+			943		S -> P (in dbSNP:rs4948550).				Silent	SNP	ENST00000373886.3	37	c.2829G>A	CCDS31206.1																																																																																				0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		16	309	0	0	0	1	0	16	309					A	60588555	G	A	60588555	2	1	79	1	0	0	0	0	0	0	0	1	1429	1074	38	1		1	BICC1	10	60588555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467408	60588555	74946192	11028	21345											
CCDC6	8030	broad.mit.edu	37	chr10	61554264	61554264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcccatgtgctgcacGtgaagacccggggaattgta	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1195-1197)caC>caT		coiled-coil domain containing 6							146	123	131					10																	61554264		2203	4300	6503	SO:0001819	synonymous_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61554264G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1197C>T	10.37:g.61554264G>A							p.H399H	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	8	1428	-			399					Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	c.1197C>T	CCDS7257.1																																																																																				0.478	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		54	258	0	0	0	1	0	54	258					A	61554264	G	A	61554264	2	1	79	1	0	0	0	0	0	0	0	1	2837	1136	40	1		1	CCDC6	10	61554264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	965709	61554264	73980483	11029	21346											
CCDC6	8030	broad.mit.edu	37	chr10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagcagctctcagttgcttCttcagccgttccacttcatt	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	273						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(817-819)aaG>aaT		coiled-coil domain containing 6							107	108	108					10																	61572421		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61572421C>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.819G>T	10.37:g.61572421C>A	ENSP00000263102:p.Lys273Asn						p.K273N	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	5	1050	-			273					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.819G>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762443	0.89932	.	.	ENSG00000108091	ENST00000263102	D	0.94758	-3.51	5.73	5.73	0.89815	.	0.084305	0.85682	D	0.000000	D	0.95968	0.8687	L	0.52573	1.65	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	D	0.96012	0.9002	10	0.72032	D	0.01	-28.4454	19.8904	0.96928	0.0:1.0:0.0:0.0	.	273	Q16204	CCDC6_HUMAN	N	273	ENSP00000263102:K273N	ENSP00000263102:K273N	K	-	3	2	CCDC6	61242427	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.879000	0.63100	2.697000	0.92050	0.650000	0.86243	AAG		0.418	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		88	310	1	0	1.37074e-43	1	1.67417e-43	88	310					A	61572421	C	A	61572421	3	1	79	1	0	0	0	0	1	0	0	0	2837	912	32	3	625	3	CCDC6	10	61572421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18157	61572421	73962326	11030	21347											
ANK3	288	broad.mit.edu	37	chr10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatctgtcctcagtaaagcGcatccacatggcatgttttg	8	10	2	0	rs375600068		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2558					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGTAAAGCGCATCCACATG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.0					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7672-7674)Cgc>Tgc		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,CYS/ARG	0,4406		0,0,2203	151	139	143		,,,7672	5.5	1	10		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,possibly-damaging	,,,2558/4378	61832967	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832967G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7672C>T	10.37:g.61832967G>A	ENSP00000280772:p.Arg2558Cys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R2558C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7863	-			2558					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7672C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036538	0.54896	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.70164	-0.46	5.47	5.47	0.80525	.	0.258119	0.23413	N	0.048452	T	0.69860	0.3158	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.74309	-0.3707	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2558	Q12955	ANK3_HUMAN	C	2558	ENSP00000280772:R2558C	ENSP00000280772:R2558C	R	-	1	0	ANK3	61502973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.564000	0.86499	0.462000	0.41574	CGC		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		122	577	0	0	0	1	0	122	577					A	61832967	G	A	61832967	3	1	79	1	0	0	0	0	1	0	0	0	622	1087	38	1	5802	1	ANK3	10	61832967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260546	61832967	73701780	11031	21348											
ANK3	288	broad.mit.edu	37	chr10	61834648	61834648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgttgtctggcttcccgGatttcttccgaactaaattc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1997					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTCCCGGATTTCTTCCG	0.448																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5989-5991)atC>atT		ankyrin 3, node of Ranvier (ankyrin G)							70	73	72					10																	61834648		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834648G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5991C>T	10.37:g.61834648G>A						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.I1997I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6182	-			1997					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5991C>T	CCDS7258.1																																																																																				0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		14	388	0	0	0	1	0	14	388					A	61834648	G	A	61834648	2	1	79	1	0	0	0	0	0	0	0	1	622	1164	41	2		2	ANK3	10	61834648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1681	61834648	73700099	11032	21349											
ANK3	288	broad.mit.edu	37	chr10	61846505	61846505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggatacaccttctccTgagggcgggggcaccggaat	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000503366.1_Silent_p.S1227S|ANK3_ENST00000373827.2_Silent_p.S1220S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1226	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCTTCTCCTGAGGGCGGGG	0.458																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3676-3678)tcA>tcG		ankyrin 3, node of Ranvier (ankyrin G)							145	133	137					10																	61846505		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61846505T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3678A>G	10.37:g.61846505T>C						ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000373827.2_Silent_p.S1220S|ANK3_ENST00000503366.1_Silent_p.S1227S	p.S1226S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			30	3869	-			1226					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3678A>G	CCDS7258.1																																																																																				0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		67	339	0	0	0	1	0	67	339					C	61846505	T	C	61846505	2	2	79	1	0	0	0	0	0	0	0	1	622	1567	55	4		4	ANK3	10	61846505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11857	61846505	73688242	11033	21350											
ANK3	288	broad.mit.edu	37	chr10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaccactgcaaaatacTgggggaaatctttcgtgata	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1132	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAAAATACTGGGGGAAATC	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3394-3396)cAg>cCg		ankyrin 3, node of Ranvier (ankyrin G)							115	117	116					10																	61848050		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848050T>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3395A>C	10.37:g.61848050T>G	ENSP00000280772:p.Gln1132Pro					ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P	p.Q1132P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3586	-			1132					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3395A>C	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048615|4.048615	0.75846|0.75846	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348|ENST00000467420	T;T;T;T|.	0.74842|.	-0.21;-0.88;-0.88;-0.88|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.40064|.	N|.	0.001198|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.994;0.998;0.999;0.999;0.998;0.997;0.996|.	P;D;D;D;D;D;D|.	0.79784|.	0.885;0.99;0.993;0.979;0.986;0.947;0.979|.	T|T	0.81678|0.81678	-0.0824|-0.0824	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1133;266;665;1126;1132;367;266|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|R	1132;1126;266;266;1133;1112;367;767;767;265;665|190	ENSP00000280772:Q1132P;ENSP00000362933:Q1126P;ENSP00000347436:Q266P;ENSP00000425236:Q1133P|.	ENSP00000280772:Q1132P|.	Q|S	-|-	2|1	0|0	ANK3|ANK3	61518056|61518056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.676000|7.676000	0.84012|0.84012	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		103	431	0	0	0	1	0	103	431					G	61848050	T	G	61848050	3	3	79	1	0	0	0	0	1	0	0	0	622	1580	55	4	10111	4	ANK3	10	61848050	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1545	61848050	73686697	11034	21351											
ANK3	288	broad.mit.edu	37	chr10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactgggggaaatctttcGtgataatcctgcagatacgc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1127	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3379-3381)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							108	109	109					10																	61848065		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848065G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3380C>T	10.37:g.61848065G>A	ENSP00000280772:p.Thr1127Met					ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	p.T1127M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3571	-			1127					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3380C>T	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|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	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		84	392	0	0	0	1	0	84	392					A	61848065	G	A	61848065	3	1	79	1	0	0	0	0	1	0	0	0	622	1145	40	1	10126	1	ANK3	10	61848065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	61848065	73686682	11035	21352											
ANK3	288	broad.mit.edu	37	chr10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgtgtcgtcttttcgggCcgcgatatgaagagctggga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000503366.1_Missense_Mutation_p.A193T|ANK3_ENST00000373827.2_Missense_Mutation_p.A204T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	210					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTTCGGGCCGCGATATGA	0.542																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(628-630)Gcc>Acc		ankyrin 3, node of Ranvier (ankyrin G)							112	95	101					10																	62023664		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62023664C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.628G>A	10.37:g.62023664C>T	ENSP00000280772:p.Ala210Thr					ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	p.A210T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			6	819	-			210					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.628G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353870	0.95830	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.72725	0.23;0.23;2.04;-0.68	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001413	D	0.85418	0.5692	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.87025	0.2131	10	0.87932	D	0	.	18.879	0.92350	0.0:1.0:0.0:0.0	.	193;204;210	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	210;204;193;172;184	ENSP00000280772:A210T;ENSP00000362933:A204T;ENSP00000425236:A193T;ENSP00000426011:A184T	ENSP00000280772:A210T	A	-	1	0	ANK3	61693670	1.000000	0.71417	0.968000	0.41197	0.673000	0.39480	7.647000	0.83462	2.696000	0.92011	0.655000	0.94253	GCC		0.542	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		64	222	0	0	0	1	0	64	222					T	62023664	C	T	62023664	3	4	79	1	0	0	0	0	1	0	0	0	622	739	26	2	12990	2	ANK3	10	62023664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175599	62023664	73511083	11036	21353											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcgacactcaatatccGcccctggaaatctctgctct	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	323	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(967-969)Cgg>Tgg		Rho-related BTB domain containing 1							54	60	58					10																	62648459		2203	4299	6502	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648459G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.967C>T	10.37:g.62648459G>A	ENSP00000338671:p.Arg323Trp					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1304	-	Prostate(12;0.0112)		323			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.967C>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130805	0.08981	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17528	2.27;2.27	5.91	2.84	0.33178	BTB/POZ-like (2);BTB/POZ fold (1);	0.903634	0.09537	N	0.788737	T	0.20251	0.0487	M	0.73962	2.25	0.09310	N	0.999995	B	0.16802	0.019	B	0.12837	0.008	T	0.29212	-1.0019	10	0.59425	D	0.04	.	4.6453	0.12568	0.1802:0.0:0.5467:0.2731	.	323	O94844	RHBT1_HUMAN	W	323	ENSP00000350595:R323W;ENSP00000338671:R323W	ENSP00000338671:R323W	R	-	1	2	RHOBTB1	62318465	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.103000	0.15292	0.859000	0.35456	-0.384000	0.06662	CGG		0.502	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			43	492	0	0	0	1	0	43	492					A	62648459	G	A	62648459	3	1	79	1	0	0	0	0	1	0	0	0	13383	1086	38	1	1147	1	RHOBTB1	10	62648459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624795	62648459	72886288	11037	21354											
RHOBTB1	9886	broad.mit.edu	37	chr10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgccatatgcaaagCgtctgtctttgtgatgatca	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H|RNU2-72P_ENST00000411175.1_RNA	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	94	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(280-282)cGc>cAc		Rho-related BTB domain containing 1							131	106	114					10																	62670660		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670660C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.281G>A	10.37:g.62670660C>T	ENSP00000338671:p.Arg94His					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H	p.R94H	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			4	618	-	Prostate(12;0.0112)		94			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.281G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994195	0.93167	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.77229	-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87654	0.2530	10	0.72032	D	0.01	.	20.1082	0.97900	0.0:1.0:0.0:0.0	.	94	O94844	RHBT1_HUMAN	H	94	ENSP00000350595:R94H;ENSP00000338671:R94H	ENSP00000338671:R94H	R	-	2	0	RHOBTB1	62340666	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.964000	0.70379	2.764000	0.94973	0.555000	0.69702	CGC		0.443	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			35	182	0	0	0	1	0	35	182					T	62670660	C	T	62670660	3	4	79	1	0	0	0	0	1	0	0	0	13383	768	27	1	1841	1	RHOBTB1	10	62670660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22201	62670660	72864087	11038	21355											
C10orf107	219621	broad.mit.edu	37	chr10	63525708	63525708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagaccgagataaaCgaaaaactgcaaatacagga	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383																																						ENST00000330194.2																			0				breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(562-564)aaC>aaT		chromosome 10 open reading frame 107							74	71	72					10																	63525708		2203	4300	6503	SO:0001819	synonymous_variant	219621							g.chr10:63525708C>T	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.564C>T	10.37:g.63525708C>T							p.N188N	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			7	869	+	Prostate(12;0.016)		188					Q5T1B8	Silent	SNP	ENST00000330194.2	37	c.564C>T	CCDS7262.1																																																																																				0.383	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		29	166	0	0	0	1	0	29	166					T	63525708	C	T	63525708	2	4	79	1	0	0	0	0	0	0	0	1	1586	535	19	1		1	C10orf107	10	63525708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	855048	63525708	72009039	11039	21356											
ARID5B	84159	broad.mit.edu	37	chr10	63852705	63852705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccttttgcataacagCatttaccctttagctgctat	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1161					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCATAACAGCATTTACCCTT	0.483																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3481-3483)agC>agT		AT rich interactive domain 5B (MRF1-like)							136	138	137					10																	63852705		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852705C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3483C>T	10.37:g.63852705C>T						ARID5B_ENST00000309334.5_Silent_p.S918S	p.S1161S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3893	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1161					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.3483C>T	CCDS31208.1																																																																																				0.483	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		124	529	0	0	0	1	0	124	529					T	63852705	C	T	63852705	2	4	79	1	0	0	0	0	0	0	0	1	922	709	25	2		2	ARID5B	10	63852705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326997	63852705	71682042	11040	21357											
ZNF365	22891	broad.mit.edu	37	chr10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctcctggggtttggcCgcaaaggcaacatcaggccc	15	12	1	0	rs528809549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGGTTTGGCCGCAAAGGCAA	0.542																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1159-1161)Cgc>Tgc		zinc finger protein 365							58	57	58					10																	64159483		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159483C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1159C>T	10.37:g.64159483C>T	ENSP00000378674:p.Arg387Cys					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	p.R387C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			5	1439	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.1159C>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508291	0.85282	.	.	ENSG00000138311	ENST00000395254	T	0.63417	-0.04	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:1.0:0.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	C	387	ENSP00000378674:R387C	ENSP00000378674:R387C	R	+	1	0	ZNF365	63829489	0.968000	0.33430	0.996000	0.52242	0.905000	0.53344	0.835000	0.27531	2.745000	0.94114	0.655000	0.94253	CGC		0.542	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		71	296	0	0	0	1	0	71	296					T	64159483	C	T	64159483	3	4	79	1	0	0	0	0	1	0	0	0	17922	652	23	1	1173	1	ZNF365	10	64159483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306778	64159483	71375264	11041	21358											
ZNF365	22891	broad.mit.edu	37	chr10	64382994	64382994	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaaatccctggacgtcTtccacggctactgcaggtga	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64382994T>G	ENST00000395251.1	+	2	150				ZNF365_ENST00000410046.3_Silent_p.S371S	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGACGTCTTCCACGGCTA	0.458																																						ENST00000410046.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1111-1113)tcT>tcG		zinc finger protein 365							143	139	141					10																	64382994		2203	4300	6503	SO:0001627	intron_variant	22891							g.chr10:64382994T>G	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.-184-20508T>G	10.37:g.64382994T>G						ZNF365_ENST00000395251.1_Intron	p.S371S	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN			5	1393	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		125						Silent	SNP	ENST00000395251.1	37	c.1113T>G	CCDS7265.1																																																																																				0.458	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		122	540	0	0	0	1	0	122	540					G	64382994	T	G	64382994	1	3	79	0	1	0	0	0	0	0	0	0	17922	1596	56	4		4	ZNF365	10	64382994	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223511	64382994	71151753	11042	21359											
ZNF365	22891	broad.mit.edu	37	chr10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattctaggtgctggaataCagagaggaaccaaacagata	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	17										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					tgctggaatacagagaggaac	0.463																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(49-51)aCa>aTa		zinc finger protein 365							145	147	146					10																	64414614		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64414614C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.50C>T	10.37:g.64414614C>T	ENSP00000378672:p.Thr17Ile					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	p.T17I	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			3	384	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		17						Missense_Mutation	SNP	ENST00000395251.1	37	c.50C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542565	0.04053	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	1.95	-0.14	0.13456	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.19614	-1.0300	9	0.87932	D	0	.	3.9428	0.09334	0.0:0.5105:0.0:0.4895	.	17	Q70YC4	TALAN_HUMAN	I	17	ENSP00000378672:T17I	ENSP00000345300:T17I	T	+	2	0	ZNF365	64084620	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.960000	0.29253	-0.031000	0.13781	0.462000	0.41574	ACA		0.463	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		116	517	0	0	0	1	0	116	517					T	64414614	C	T	64414614	3	4	79	1	0	0	0	0	1	0	0	0	17922	478	17	2	1534	2	ZNF365	10	64414614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31620	64414614	71120133	11043	21360											
EGR2	1959	broad.mit.edu	37	chr10	64573594	64573594	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccccccagggtaaagttacgGattgtagagagtggagtgag	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000411732.1_Silent_p.I218I|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	268			I -> N (in CHN). {ECO:0000269|PubMed:9537424}.		brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGTTACGGATTGTAGAGA	0.652																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(802-804)atC>atA		early growth response 2							27	31	30					10																	64573594		2196	4289	6485	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573594G>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.804C>A	10.37:g.64573594G>T						EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000411732.1_Silent_p.I218I	p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1129	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		268		I -> N (in CHN).			B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.804C>A	CCDS7267.1																																																																																				0.652	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		54	287	1	0	9.57592e-29	1	1.11608e-28	54	287					T	64573594	G	T	64573594	2	4	79	1	0	0	0	0	0	0	0	1	4988	1164	41	3		3	EGR2	10	64573594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158980	64573594	70961153	11044	21361											
EGR2	1959	broad.mit.edu	37	chr10	64573855	64573855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcagaagggtcctggtaGaggtctcctgcacagccaga	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000411732.1_Silent_p.L131L|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	181					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCCTGGTAGAGGTCTCCTG	0.627																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(541-543)ctC>ctT		early growth response 2							84	86	85					10																	64573855		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573855G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.543C>T	10.37:g.64573855G>A						EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000411732.1_Silent_p.L131L	p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	868	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		181					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.543C>T	CCDS7267.1																																																																																				0.627	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		116	433	0	0	0	1	0	116	433					A	64573855	G	A	64573855	2	1	79	1	0	0	0	0	0	0	0	1	4988	929	33	2		2	EGR2	10	64573855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	64573855	70960892	11045	21362											
EGR2	1959	broad.mit.edu	37	chr10	64573870	64573870	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaggtctcctgcacaGccagaataaggaggaggagg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000411732.1_Silent_p.G126G|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	176					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCTGCACAGCCAGAATAAG	0.622																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(526-528)ggC>ggA		early growth response 2							79	82	81					10																	64573870		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573870G>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.528C>A	10.37:g.64573870G>T						EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000411732.1_Silent_p.G126G	p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	853	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		176					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.528C>A	CCDS7267.1																																																																																				0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		112	419	1	0	1.58909e-51	1	1.97261e-51	112	419					T	64573870	G	T	64573870	2	4	79	1	0	0	0	0	0	0	0	1	4988	958	34	3		3	EGR2	10	64573870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	64573870	70960877	11046	21363											
JMJD1C	221037	broad.mit.edu	37	chr10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcttcttcctcaaatttCttgagaattcctgaaacaaa	3	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2365	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(7093-7095)aaG>aaT		jumonji domain containing 1C							95	87	89					10																	64937606		1828	4077	5905	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64937606C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7095G>T	10.37:g.64937606C>A	ENSP00000382204:p.Lys2365Asn					JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	p.K2365N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			23	7313	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2365			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.7095G>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077728|4.077728	0.76528|0.76528	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.58940|.	0.64;0.3;0.64|.	6.05|6.05	5.15|5.15	0.70609|0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68393|0.68393	0.2996|0.2996	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.367|.	D;D;B|.	0.91635|.	0.999;0.999;0.35|.	T|T	0.66842|0.66842	-0.5821|-0.5821	10|5	0.72032|.	D|.	0.01|.	-14.9126|-14.9126	14.7894|14.7894	0.69827|0.69827	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	2183;2365;2183|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	2365;2128;2183|912	ENSP00000382204:K2365N;ENSP00000384990:K2128N;ENSP00000444682:K2183N|.	ENSP00000382204:K2365N|.	K|R	-|-	3|2	2|0	JMJD1C|JMJD1C	64607612|64607612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.768000|1.768000	0.38511|0.38511	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		29	115	1	0	1.39806e-14	1	1.52044e-14	29	115					A	64937606	C	A	64937606	3	1	79	1	0	0	0	0	1	0	0	0	7980	912	32	3	543	3	JMJD1C	10	64937606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363736	64937606	70597141	11047	21364											
JMJD1C	221037	broad.mit.edu	37	chr10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actattagacaatgtagtgaAatagttactttggggtaaac	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3280-3282)Ttc>Ctc		jumonji domain containing 1C							194	184	187					10																	64968149		1879	4098	5977	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968149A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3280T>C	10.37:g.64968149A>G	ENSP00000382204:p.Phe1094Leu					JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	p.F1094L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3498	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1094					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3280T>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124391	0.77436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.64085	0.27;-0.08;1.75;0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.62723	1.935	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58970	0.804;0.849;0.849	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.319	15.7575	0.78046	1.0:0.0:0.0:0.0	.	635;1094;912	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	L	1094;875;875;912	ENSP00000382204:F1094L;ENSP00000384990:F875L;ENSP00000382195:F875L;ENSP00000444682:F912L	ENSP00000382195:F875L	F	-	1	0	JMJD1C	64638155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.118000	0.64928	0.460000	0.39030	TTC		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		206	787	0	0	0	1	0	206	787					G	64968149	A	G	64968149	3	3	79	1	0	0	0	0	1	0	0	0	7980	14	1	4	4410	4	JMJD1C	10	64968149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30543	64968149	70566598	11048	21365											
JMJD1C	221037	broad.mit.edu	37	chr10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaattcgacggtgttcCtctttgtatttgtttaacct	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1020					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3058-3060)gaG>gaT		jumonji domain containing 1C							213	198	203					10																	64968369		1893	4115	6008	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968369C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3060G>T	10.37:g.64968369C>A	ENSP00000382204:p.Glu1020Asp					JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	p.E1020D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3278	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1020					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3060G>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000484	0.54147	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.69435	-0.06;-0.4;1.38;-0.05	5.9	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.64997	1.995	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73353	-0.4009	10	0.52906	T	0.07	-15.4301	9.7959	0.40735	0.0:0.6749:0.0:0.3251	.	561;1020;838	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1020;801;801;838	ENSP00000382204:E1020D;ENSP00000384990:E801D;ENSP00000382195:E801D;ENSP00000444682:E838D	ENSP00000382195:E801D	E	-	3	2	JMJD1C	64638375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.424000	0.34848	0.228000	0.21019	0.563000	0.77884	GAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		156	715	1	0	6.68407e-91	1	8.58241e-91	156	715					A	64968369	C	A	64968369	3	1	79	1	0	0	0	0	1	0	0	0	7980	680	24	3	4630	3	JMJD1C	10	64968369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	64968369	70566378	11049	21366											
JMJD1C	221037	broad.mit.edu	37	chr10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggtcatttgaaccataGaaggatcgacattctgtggt	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	236					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(706-708)tCt>tTt		jumonji domain containing 1C							59	52	54					10																	64975428		1869	4102	5971	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975428G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.707C>T	10.37:g.64975428G>A	ENSP00000382204:p.Ser236Phe					JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	p.S236F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			6	925	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		236					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.707C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793804	0.70452	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.28	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.47245	D	0.999368	B;B	0.23990	0.095;0.067	B;B	0.21917	0.037;0.03	T	0.05937	-1.0855	10	0.46703	T	0.11	-4.9331	15.9854	0.80147	0.0:0.1349:0.8651:0.0	.	236;54	Q15652;A0T124	JHD2C_HUMAN;.	F	236;17;17;54	ENSP00000382204:S236F;ENSP00000384990:S17F;ENSP00000382195:S17F;ENSP00000444682:S54F	ENSP00000382195:S17F	S	-	2	0	JMJD1C	64645434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.218000	0.43458	0.655000	0.94253	TCT		0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		30	126	0	0	0	1	0	30	126					A	64975428	G	A	64975428	3	1	79	1	0	0	0	0	1	0	0	0	7980	942	33	2	6999	2	JMJD1C	10	64975428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7059	64975428	70559319	11050	21367											
JMJD1C	221037	broad.mit.edu	37	chr10	65225411	65225411	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaccagctctgcccgcgtCtctaccgccatagctgtcgc	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C-AS1_ENST00000609436.1_RNA	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	4					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(10-12)gaG>gaA		jumonji domain containing 1C							20	27	24					10																	65225411		2170	4264	6434	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:65225411C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.12G>A	10.37:g.65225411C>T						JMJD1C_ENST00000399251.1_5'UTR	p.E4E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			1	230	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		4					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.12G>A	CCDS41532.1																																																																																				0.677	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		26	169	0	0	0	1	0	26	169					T	65225411	C	T	65225411	2	4	79	1	0	0	0	0	0	0	0	1	7980	912	32	2		2	JMJD1C	10	65225411	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249983	65225411	70309336	11051	21368											
CTNNA3	29119	broad.mit.edu	37	chr10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtttcctctggcttcTctcttttaatcaagggtttt	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											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						CTCTGGCTTCTCTCTTTTAAT	0.468																																						ENST00000433211.1																			0				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						c.(2584-2586)gAg>gGg		catenin (cadherin-associated protein), alpha 3							107	110	109					10																	67680191		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680191T>C	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.2585A>G	10.37:g.67680191T>C	ENSP00000389714:p.Glu862Gly					CTNNA3_ENST00000373735.1_Missense_Mutation_p.E201G|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	p.E862G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2759	-			862						Missense_Mutation	SNP	ENST00000433211.2	37	c.2585A>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951743	0.92660	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.51325	1.3;1.3;0.71	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000019	T	0.66327	0.2778	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.68405	-0.5417	10	0.59425	D	0.04	-23.3476	14.3151	0.66443	0.0:0.0:0.0:1.0	.	862	Q9UI47	CTNA3_HUMAN	G	862;862;201	ENSP00000389714:E862G;ENSP00000362849:E862G;ENSP00000362840:E201G	ENSP00000362840:E201G	E	-	2	0	CTNNA3	67350197	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	GAG		0.468	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		126	503	0	0	0	1	0	126	503					C	67680191	T	C	67680191	3	2	79	1	0	0	0	0	1	0	0	0	4025	1551	54	4	106	4	CTNNA3	10	67680191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454780	67680191	67854556	11052	21369											
LRRTM3	347731	broad.mit.edu	37	chr10	68686696	68686696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttcaatgtaattaggCtactgagcggatcagctgta	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	8					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(22-24)Cta>Tta		leucine rich repeat transmembrane neuronal 3							63	59	61					10																	68686696		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68686696C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.22C>T	10.37:g.68686696C>T						CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.L8L	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	600	+			8					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.22C>T	CCDS7270.1																																																																																				0.403	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		46	160	0	0	0	1	0	46	160					T	68686696	C	T	68686696	2	4	79	1	0	0	0	0	0	0	0	1	9079	796	28	2		2	LRRTM3	10	68686696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006505	68686696	66848051	11053	21370											
LRRTM3	347731	broad.mit.edu	37	chr10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttaggtttgtcccttcGctataacagccttcaaaaac	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	69					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(205-207)cGc>cAc		leucine rich repeat transmembrane neuronal 3							109	114	113					10																	68686880		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686880G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.206G>A	10.37:g.68686880G>A	ENSP00000355187:p.Arg69His					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.R69H	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	784	+			69					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.206G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621851	0.66787	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.58797	0.31	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.65270	0.2675	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	T	0.64859	-0.6308	10	0.39692	T	0.17	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	69;69	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	69	ENSP00000355187:R69H	ENSP00000355187:R69H	R	+	2	0	LRRTM3	68356886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CGC		0.398	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		94	367	0	0	0	1	0	94	367					A	68686880	G	A	68686880	3	1	79	1	0	0	0	0	1	0	0	0	9079	1087	38	1	212	1	LRRTM3	10	68686880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	68686880	66847867	11054	21371											
LRRTM3	347731	broad.mit.edu	37	chr10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcatgatcagactcaaaGaacttcacctggagcacaat	8	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(625-627)Gaa>Aaa		leucine rich repeat transmembrane neuronal 3							100	102	101					10																	68687299		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687299G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.625G>A	10.37:g.68687299G>A	ENSP00000355187:p.Glu209Lys					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.E209K	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1203	+			209					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.625G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798719	0.70567	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	T	0.67429	0.2892	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	209;209	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	209	ENSP00000355187:E209K	ENSP00000355187:E209K	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		87	511	0	0	0	1	0	87	511					A	68687299	G	A	68687299	3	1	79	1	0	0	0	0	1	0	0	0	9079	943	33	2	631	2	LRRTM3	10	68687299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419	68687299	66847448	11055	21372											
CTNNA3	29119	broad.mit.edu	37	chr10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtactcactttctttgCgaacttcctcaagtgaagcc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											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						ACTTTCTTTGCGAACTTCCTC	0.423																																						ENST00000433211.1																			0				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						c.(283-285)cGc>cAc		catenin (cadherin-associated protein), alpha 3							113	115	114					10																	69366623		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69366623C>T	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.284G>A	10.37:g.69366623C>T	ENSP00000389714:p.Arg95His					CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			3	458	-			95						Missense_Mutation	SNP	ENST00000433211.2	37	c.284G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	CTNNA3	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		68	370	0	0	0	1	0	68	370					T	69366623	C	T	69366623	3	4	79	1	0	0	0	0	1	0	0	0	4025	768	27	1	2467	1	CTNNA3	10	69366623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679324	69366623	66168124	11056	21373											
SIRT1	23411	broad.mit.edu	37	chr10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaatacctgactTcaggtcaagggatggtattt	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	273	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(817-819)tTc>tCc		sirtuin 1							191	182	185					10																	69651188		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69651188T>C	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.818T>C	10.37:g.69651188T>C	ENSP00000212015:p.Phe273Ser					SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	p.F273S	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			4	871	+			273			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.818T>C	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804013	0.90623	.	.	ENSG00000096717	ENST00000212015	T	0.43294	0.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	-8.5998	14.4334	0.67266	0.0:0.0:0.0:1.0	.	273	Q96EB6	SIRT1_HUMAN	S	273	ENSP00000212015:F273S	ENSP00000212015:F273S	F	+	2	0	SIRT1	69321194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.064000	0.61679	0.455000	0.32223	TTC		0.383	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			136	635	0	0	0	1	0	136	635					C	69651188	T	C	69651188	3	2	79	1	0	0	0	0	1	0	0	0	14387	1783	62	4	832	4	SIRT1	10	69651188	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284565	69651188	65883559	11057	21374											
MYPN	84665	broad.mit.edu	37	chr10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctccaggattgggcttCgtgtgcacttcaacctgcct	10	14	1	0	rs367570424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	597					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)			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						GATTGGGCTTCGTGTGCACTT	0.572																																						ENST00000358913.5																			0				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						c.(1789-1791)Cgt>Tgt		myopalladin		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73	63	66		1789	5.3	1	10		66	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	597/1321	69926239	2,13004	2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926239C>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.1789C>T	10.37:g.69926239C>T	ENSP00000351790:p.Arg597Cys					MYPN_ENST00000354393.2_Missense_Mutation_p.R322C|MYPN_ENST00000540630.1_Missense_Mutation_p.R597C	p.R597C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			10	2277	+			597					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1789C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386227	0.82902	4.54E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59364	0.27;0.29;0.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66196	0.897;0.942;0.877	T	0.70528	-0.4847	9	.	.	.	.	13.8632	0.63573	0.1526:0.8474:0.0:0.0	.	597;322;597	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	322;322;597;597	ENSP00000346369:R322C;ENSP00000351790:R597C;ENSP00000441668:R597C	.	R	+	1	0	MYPN	69596245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.080000	0.57620	2.455000	0.83008	0.655000	0.94253	CGT		0.572	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		60	208	0	0	0	1	0	60	208					T	69926239	C	T	69926239	3	4	79	1	0	0	0	0	1	0	0	0	10139	884	31	1	1823	1	MYPN	10	69926239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275051	69926239	65608508	11058	21375											
MYPN	84665	broad.mit.edu	37	chr10	69966658	69966658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaggctggatatatAcggtaagtgtaatgctgtta	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	ENST00000358913.5	+	19	4279	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1264	Interaction with ACTN.				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)			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						CTGGATATATACGGTAAGTGT	0.448																																						ENST00000358913.5																			0				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						c.(3790-3792)tAc>tGc		myopalladin							93	87	89					10																	69966658		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69966658A>G	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.3791A>G	10.37:g.69966658A>G	ENSP00000351790:p.Tyr1264Cys					MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C	p.Y1264C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			19	4279	+			1264			Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3791A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328369	0.81690	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.74002	-0.8;-0.8;-0.8	5.65	5.65	0.86999	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83450	0.0048	9	.	.	.	.	15.8643	0.79052	1.0:0.0:0.0:0.0	.	1264;989;1264	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	989;989;1264;1264	ENSP00000346369:Y989C;ENSP00000351790:Y1264C;ENSP00000441668:Y1264C	.	Y	+	2	0	MYPN	69636664	1.000000	0.71417	0.990000	0.47175	0.815000	0.46073	9.339000	0.96797	2.152000	0.67230	0.402000	0.26972	TAC		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		71	235	0	0	0	1	0	71	235					G	69966658	A	G	69966658	3	3	79	1	0	0	0	0	1	0	0	0	10139	391	14	4	3861	4	MYPN	10	69966658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40419	69966658	65568089	11059	21376											
ATOH7	220202	broad.mit.edu	37	chr10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagagccatgatgtagCtcagggccatctgcagggtc	15	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	87	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CATGATGTAGCTCAGGGCCAT	0.637																																						ENST00000373673.3																			0											c.(259-261)aGc>aTc		atonal homolog 7 (Drosophila)							57	55	55					10																	69991175		2203	4300	6503	SO:0001583	missense	220202				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr10:69991175C>A	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"Basic helix-loop-helix proteins"	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.260G>T	10.37:g.69991175C>A	ENSP00000362777:p.Ser87Ile						p.S87I	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN			1	696	-			87			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000373673.3	37	c.260G>T	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824458	0.90955	.	.	ENSG00000179774	ENST00000373673	D	0.97976	-4.64	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.38733	1.17	0.80722	D	1	P	0.39535	0.677	P	0.46479	0.518	D	0.95889	0.8905	9	.	.	.	-5.8489	17.9986	0.89192	0.0:1.0:0.0:0.0	.	87	Q8N100	ATOH7_HUMAN	I	87	ENSP00000362777:S87I	.	S	-	2	0	ATOH7	69661181	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.902000	0.63266	2.240000	0.73641	0.561000	0.74099	AGC		0.637	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1			18	137	1	0	3.41278e-10	1	3.61262e-10	18	137					A	69991175	C	A	69991175	3	1	79	1	0	0	0	0	1	0	0	0	1114	797	28	3	202	3	ATOH7	10	69991175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24517	69991175	65543572	11060	21377											
HNRNPH3	3189	broad.mit.edu	37	chr10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactcctgatggtttggGtggttatggtaagtatctct	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	319	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(955-957)gGt>gAt		heterogeneous nuclear ribonucleoprotein H3 (2H9)							184	157	166					10																	70101600		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101600G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.956G>A	10.37:g.70101600G>A	ENSP00000265866:p.Gly319Asp					HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D	p.G319D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			9	1121	+			319			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.956G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741177	0.49151	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15487	2.78;2.42;2.58	5.66	5.66	0.87406	.	0.096984	0.64402	D	0.000001	T	0.39332	0.1074	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.02208	-1.1195	10	0.46703	T	0.11	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	211;304;319	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	D	319;211;304	ENSP00000265866:G319D;ENSP00000409869:G211D;ENSP00000346726:G304D	ENSP00000265866:G319D	G	+	2	0	HNRNPH3	69771606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.188000	0.89710	2.653000	0.90120	0.563000	0.77884	GGT		0.363	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			74	360	0	0	0	1	0	74	360					A	70101600	G	A	70101600	3	1	79	1	0	0	0	0	1	0	0	0	7298	1261	44	2	986	2	HNRNPH3	10	70101600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110425	70101600	65433147	11061	21378											
DNA2	1763	broad.mit.edu	37	chr10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagctgctgatggtcccCcactaacacaaatctccgtg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000358410.3	-	15	2406	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.G872W	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	786	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2614-2616)Ggg>Tgg		DNA replication helicase/nuclease 2							36	36	36					10																	70182500		1827	4076	5903	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182500C>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2356G>T	10.37:g.70182500C>A	ENSP00000351185:p.Gly786Trp					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.G786W	p.G872W			P51530	DNA2L_HUMAN			15	2613	-			786					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2614G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109622|4.109622	0.77096|0.77096	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.99578	.|-6.21;-6.21	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.107348|0.107348	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.99816|0.99816	0.9919|0.9919	H|H	0.99211|0.99211	4.47|4.47	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96968|0.96968	0.9706|0.9706	6|10	.|0.87932	.|D	.|0	.|.	13.0117|13.0117	0.58735|0.58735	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|786	.|P51530	.|DNA2L_HUMAN	V|W	107|872;786	.|ENSP00000382133:G872W;ENSP00000351185:G786W	.|ENSP00000351185:G786W	G|G	-|-	2|1	0|0	DNA2|DNA2	69852506|69852506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.622000|7.622000	0.83099|0.83099	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGG|GGG		0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			42	156	1	0	5.59293e-11	1	5.94944e-11	42	156					A	70182500	C	A	70182500	3	1	79	1	0	0	0	0	1	0	0	0	4612	623	22	3	854	3	DNA2	10	70182500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80900	70182500	65352247	11062	21379											
DNA2	1763	broad.mit.edu	37	chr10	70196900	70196900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttgtgacaggtatggcaCcatgtttacattggaaatta	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70196900C>T	ENST00000358410.3	-	10	1564	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000399180.2_Missense_Mutation_p.G591D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	505	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGGTATGGCACCATGTTTACA	0.388																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1771-1773)gGt>gAt		DNA replication helicase/nuclease 2							181	171	174					10																	70196900		1880	4115	5995	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196900C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1514G>A	10.37:g.70196900C>T	ENSP00000351185:p.Gly505Asp					DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000358410.3_Missense_Mutation_p.G505D	p.G591D			P51530	DNA2L_HUMAN			10	1771	-			505					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.1772G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.493986	0.84962	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94046	-2.82;-3.34;-2.8	5.4	5.4	0.78164	.	0.174839	0.51477	D	0.000090	D	0.95981	0.8691	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	D	0.93763	0.7068	10	0.12103	T	0.63	.	19.1874	0.93649	0.0:1.0:0.0:0.0	.	505;505	F8VR31;P51530	.;DNA2L_HUMAN	D	505;591;505;505	ENSP00000382133:G591D;ENSP00000382132:G505D;ENSP00000351185:G505D	ENSP00000351185:G505D	G	-	2	0	DNA2	69866906	1.000000	0.71417	0.988000	0.46212	0.734000	0.41952	5.150000	0.64869	2.522000	0.85027	0.557000	0.71058	GGT		0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			12	618	0	0	0	1	0	12	618					T	70196900	C	T	70196900	3	4	79	1	0	0	0	0	1	0	0	0	4612	507	18	2	1716	2	DNA2	10	70196900	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14400	70196900	65337847	11063	21380											
SLC25A16	8034	broad.mit.edu	37	chr10	70248346	70248346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtaggagcatgggaaagCccaacactcttcaaggtacc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	217					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(649-651)ggG>ggA		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							78	72	74					10																	70248346		2203	4300	6503	SO:0001819	synonymous_variant	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70248346C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.651G>A	10.37:g.70248346C>T						SLC25A16_ENST00000539557.1_Silent_p.G119G|SLC25A16_ENST00000493963.1_5'UTR	p.G217G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			7	749	-			217					Q8N2U1	Silent	SNP	ENST00000609923.1	37	c.651G>A	CCDS7280.1																																																																																				0.373	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			34	164	0	0	0	1	0	34	164					T	70248346	C	T	70248346	2	4	79	1	0	0	0	0	0	0	0	1	14528	726	26	2		2	SLC25A16	10	70248346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51446	70248346	65286401	11064	21381											
TET1	80312	broad.mit.edu	37	chr10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacagtggccctgcagctgaGatccttcctgggccactgga	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	212					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(634-636)gaG>gaT		tet methylcytosine dioxygenase 1							49	46	47					10																	70332731		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.chr10:70332731G>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.636G>T	10.37:g.70332731G>T	ENSP00000362748:p.Glu212Asp						p.E212D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	845	+			212					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.636G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491651	0.26774	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.53	2.11	0.27256	.	1.368980	0.04955	N	0.461030	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.41680	-0.9495	10	0.22706	T	0.39	.	2.4407	0.04493	0.177:0.2657:0.4217:0.1356	.	212	Q8NFU7	TET1_HUMAN	D	212	ENSP00000362748:E212D	ENSP00000362748:E212D	E	+	3	2	TET1	70002737	0.000000	0.05858	0.018000	0.16275	0.547000	0.35210	0.145000	0.16157	0.643000	0.30638	0.563000	0.77884	GAG		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		64	257	1	0	1.87469e-40	1	2.27324e-40	64	257					T	70332731	G	T	70332731	3	4	79	1	0	0	0	0	1	0	0	0	15821	933	33	3	638	3	TET1	10	70332731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84385	70332731	65202016	11065	21382											
TET1	80312	broad.mit.edu	37	chr10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacttgcagtccagggtgCtatacagattttgcctttgg	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	465					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(1393-1395)gCt>gAt		tet methylcytosine dioxygenase 1							65	58	60					10																	70333489		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.chr10:70333489C>A	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.1394C>A	10.37:g.70333489C>A	ENSP00000362748:p.Ala465Asp						p.A465D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	1603	+			465					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1394C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001149	0.54254	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.19	5.19	0.71726	.	0.477138	0.17509	N	0.171717	T	0.08626	0.0214	L	0.27053	0.805	0.34570	D	0.713337	B	0.32031	0.352	B	0.27170	0.077	T	0.14090	-1.0485	10	0.87932	D	0	.	11.5003	0.50433	0.1919:0.8081:0.0:0.0	.	465	Q8NFU7	TET1_HUMAN	D	465	ENSP00000362748:A465D	ENSP00000362748:A465D	A	+	2	0	TET1	70003495	0.946000	0.32159	0.926000	0.36857	0.973000	0.67179	1.306000	0.33505	2.421000	0.82119	0.305000	0.20034	GCT		0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		79	250	1	0	1.25742e-37	1	1.51121e-37	79	250					A	70333489	C	A	70333489	3	1	79	1	0	0	0	0	1	0	0	0	15821	797	28	3	1396	3	TET1	10	70333489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758	70333489	65201258	11066	21383											
TET1	80312	broad.mit.edu	37	chr10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaagtgggaaaagttgtCctatatgtatggcacaatat	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1180					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(3538-3540)tCc>tTc		tet methylcytosine dioxygenase 1							75	77	77					10																	70406025		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.chr10:70406025C>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.3539C>T	10.37:g.70406025C>T	ENSP00000362748:p.Ser1180Phe						p.S1180F	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	3748	+			1180					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3539C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325739	0.24080	.	.	ENSG00000138336	ENST00000373644	T	0.08634	3.07	5.12	5.12	0.69794	.	0.827937	0.10311	N	0.689957	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	P	0.52316	0.952	P	0.54460	0.753	T	0.34775	-0.9815	10	0.72032	D	0.01	.	15.7318	0.77810	0.0:1.0:0.0:0.0	.	1180	Q8NFU7	TET1_HUMAN	F	1180	ENSP00000362748:S1180F	ENSP00000362748:S1180F	S	+	2	0	TET1	70076031	0.790000	0.28787	0.039000	0.18376	0.008000	0.06430	4.544000	0.60691	2.394000	0.81467	0.563000	0.77884	TCC		0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		69	343	0	0	0	1	0	69	343					T	70406025	C	T	70406025	3	4	79	1	0	0	0	0	1	0	0	0	15821	855	30	2	3549	2	TET1	10	70406025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72536	70406025	65128722	11067	21384											
TET1	80312	broad.mit.edu	37	chr10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttccaatggccgaccGgctatacacagagctcacag	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4594-4596)cGg>cAg		tet methylcytosine dioxygenase 1							96	79	85					10																	70426935		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.chr10:70426935G>A	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.4595G>A	10.37:g.70426935G>A	ENSP00000362748:p.Arg1532Gln						p.R1532Q	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			7	4804	+			1532					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4595G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	TET1	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG		0.488	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		39	109	0	0	0	1	0	39	109					A	70426935	G	A	70426935	3	1	79	1	0	0	0	0	1	0	0	0	15821	1116	39	1	4617	1	TET1	10	70426935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20910	70426935	65107812	11068	21385											
TET1	80312	broad.mit.edu	37	chr10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaacactaaaacttattCgctgatgccatccgctcctc	5	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1832					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5494-5496)tCg>tTg		tet methylcytosine dioxygenase 1							95	96	96					10																	70450655		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.chr10:70450655C>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.5495C>T	10.37:g.70450655C>T	ENSP00000362748:p.Ser1832Leu						p.S1832L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	5704	+			1832					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5495C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751989	0.69533	.	.	ENSG00000138336	ENST00000373644	T	0.09817	2.94	5.22	4.28	0.50868	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.198170	0.01460	U	0.015833	T	0.30541	0.0768	M	0.73217	2.22	0.30325	N	0.787173	D	0.71674	0.998	P	0.55161	0.77	T	0.03249	-1.1056	10	0.87932	D	0	.	10.711	0.45984	0.0:0.9064:0.0:0.0936	.	1832	Q8NFU7	TET1_HUMAN	L	1832	ENSP00000362748:S1832L	ENSP00000362748:S1832L	S	+	2	0	TET1	70120661	0.957000	0.32711	0.121000	0.21740	0.847000	0.48162	2.761000	0.47589	1.121000	0.41925	0.655000	0.94253	TCG		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		124	527	0	0	0	1	0	124	527					T	70450655	C	T	70450655	3	4	79	1	0	0	0	0	1	0	0	0	15821	893	31	1	5537	1	TET1	10	70450655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23720	70450655	65084092	11069	21386											
CCAR1	55749	broad.mit.edu	37	chr10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattgcagcctcctgttcGtatagtttcacagccacaac	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	284					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCTGTTCGTATAGTTTCA	0.408																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(850-852)cGt>cAt		cell division cycle and apoptosis regulator 1							66	66	66					10																	70508917		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70508917G>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.851G>A	10.37:g.70508917G>A	ENSP00000265872:p.Arg284His					CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	p.R284H	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			9	970	+			284					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.851G>A	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612691	0.87258	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;1.77;1.77;1.76;1.8;1.77	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51261	0.1664	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.984;0.987;0.994	T	0.48768	-0.9006	10	0.56958	D	0.05	-9.1222	19.2324	0.93845	0.0:0.0:1.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	284;269;269;269;258;89	ENSP00000265872:R284H;ENSP00000441820:R269H;ENSP00000445254:R269H;ENSP00000439252:R269H;ENSP00000438610:R258H;ENSP00000439642:R89H	ENSP00000265872:R284H	R	+	2	0	CCAR1	70178923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.524000	0.85096	0.650000	0.86243	CGT		0.408	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		70	355	0	0	0	1	0	70	355					A	70508917	G	A	70508917	3	1	79	1	0	0	0	0	1	0	0	0	2737	1145	40	1	881	1	CCAR1	10	70508917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58262	70508917	65025830	11070	21387											
CCAR1	55749	broad.mit.edu	37	chr10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggccactggtctccttCgttggatggaccagacccag	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	507					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGGTCTCCTTCGTTGGATGGA	0.428																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1519-1521)tCg>tTg		cell division cycle and apoptosis regulator 1							178	175	176					10																	70515188		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70515188C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1520C>T	10.37:g.70515188C>T	ENSP00000265872:p.Ser507Leu					CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR	p.S507L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			13	1639	+			507					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1520C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217857	0.58560	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.72	5.72	0.89469	.	0.063959	0.64402	D	0.000004	T	0.74275	0.3695	M	0.84433	2.695	0.80722	D	1	P;P;D	0.89917	0.472;0.528;1.0	B;B;D	0.87578	0.141;0.221;0.998	T	0.77635	-0.2514	10	0.87932	D	0	-1.9755	19.8722	0.96854	0.0:1.0:0.0:0.0	.	492;507;481	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	507;492;492;492;481;312	ENSP00000265872:S507L;ENSP00000441820:S492L;ENSP00000445254:S492L;ENSP00000439252:S492L;ENSP00000438610:S481L;ENSP00000439642:S312L	ENSP00000265872:S507L	S	+	2	0	CCAR1	70185194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.700000	0.92200	0.585000	0.79938	TCG		0.428	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		102	421	0	0	0	1	0	102	421					T	70515188	C	T	70515188	3	4	79	1	0	0	0	0	1	0	0	0	2737	893	31	1	1566	1	CCAR1	10	70515188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6271	70515188	65019559	11071	21388											
STOX1	219736	broad.mit.edu	37	chr10	70644062	70644062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttataccactctgggaacGctgattaaagaaaggaagat	9	7	1	3	rs373698908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000399169.4_Silent_p.T170T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	170						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(508-510)acG>acA		storkhead box 1							96	89	91					10																	70644062		1876	4120	5996	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644062G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.510G>A	10.37:g.70644062G>A						STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.T170T|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T	p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	593	+			170					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.510G>A	CCDS41535.1																																																																																				0.333	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		39	516	0	0	0	1	0	39	516					A	70644062	G	A	70644062	2	1	79	1	0	0	0	0	0	0	0	1	15371	1074	38	1		1	STOX1	10	70644062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128874	70644062	64890685	11072	21389											
STOX1	219736	broad.mit.edu	37	chr10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaatggtaggtcagaAaccacttggtgagattacaa	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	474						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1420-1422)aAa>aCa		storkhead box 1							74	75	75					10																	70644973		1881	4093	5974	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644973A>C	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1421A>C	10.37:g.70644973A>C	ENSP00000298596:p.Lys474Thr					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	p.K474T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1504	+			474					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1421A>C	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980775	0.02197	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.51	5.98	0.588	0.17445	.	0.489617	0.20416	N	0.092763	T	0.67097	0.2857	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.55263	-0.8168	10	0.30854	T	0.27	.	9.4765	0.38875	0.3569:0.5702:0.0729:0.0	.	474	Q6ZVD7	STOX1_HUMAN	T	474;474;364	ENSP00000382121:K474T;ENSP00000298596:K474T;ENSP00000394509:K364T	ENSP00000298596:K474T	K	+	2	0	STOX1	70314979	0.001000	0.12720	0.131000	0.22000	0.015000	0.08874	1.282000	0.33226	0.132000	0.18615	0.482000	0.46254	AAA		0.453	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		80	330	0	0	0	1	0	80	330					C	70644973	A	C	70644973	3	2	79	1	0	0	0	0	1	0	0	0	15371	14	1	4	1431	4	STOX1	10	70644973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	911	70644973	64889774	11073	21390											
STOX1	219736	broad.mit.edu	37	chr10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaagtcattcccactTtgacaaattaggggagacca	10	8	1	2	rs375412611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	628						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1882-1884)tTt>tCt		storkhead box 1							132	122	125					10																	70645435		1920	4147	6067	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645435T>C	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1883T>C	10.37:g.70645435T>C	ENSP00000298596:p.Phe628Ser					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	p.F628S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1966	+			628					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1883T>C	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660004	0.14645	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.72615	-0.67;-0.67;-0.35	6.07	1.24	0.21308	.	0.694453	0.14722	N	0.302274	T	0.57388	0.2050	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.40534	-0.9558	10	0.25106	T	0.35	.	4.5658	0.12186	0.0:0.2893:0.169:0.5417	.	628	Q6ZVD7	STOX1_HUMAN	S	628;628;518	ENSP00000382121:F628S;ENSP00000298596:F628S;ENSP00000394509:F518S	ENSP00000298596:F628S	F	+	2	0	STOX1	70315441	0.000000	0.05858	0.440000	0.26846	0.966000	0.64601	-0.170000	0.09897	0.524000	0.28502	0.528000	0.53228	TTT		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		28	603	0	0	0	1	0	28	603					C	70645435	T	C	70645435	3	2	79	1	0	0	0	0	1	0	0	0	15371	1841	64	4	1893	4	STOX1	10	70645435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	462	70645435	64889312	11074	21391											
DDX50	79009	broad.mit.edu	37	chr10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggttggaacacctggtCgtatcaaagaccatctgcag	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(805-807)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							144	135	138					10																	70673194		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673194C>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.805C>T	10.37:g.70673194C>T	ENSP00000362687:p.Arg269Cys						p.R269C	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			6	912	+			269			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.805C>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076777	0.76415	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.203799	0.53938	D	0.000052	T	0.60728	0.2291	H	0.97077	3.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.74368	-0.3688	10	0.87932	D	0	-7.362	14.4631	0.67465	0.0:0.853:0.147:0.0	.	269;269	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	269	ENSP00000362687:R269C	ENSP00000362687:R269C	R	+	1	0	DDX50	70343200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.530000	0.85305	0.462000	0.41574	CGT		0.388	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		79	364	0	0	0	1	0	79	364					T	70673194	C	T	70673194	3	4	79	1	0	0	0	0	1	0	0	0	4379	884	31	1	827	1	DDX50	10	70673194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27759	70673194	64861553	11075	21392											
DDX50	79009	broad.mit.edu	37	chr10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaactgcgacatgttgTgcttgatgaagtggatcaga	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	288	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(862-864)gTg>gCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							165	155	159					10																	70673252		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673252T>C	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.863T>C	10.37:g.70673252T>C	ENSP00000362687:p.Val288Ala						p.V288A	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			6	970	+			288			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.863T>C	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316314	0.81469	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.34072	1.38	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.107917	0.64402	D	0.000006	T	0.66005	0.2746	M	0.90019	3.08	0.51233	D	0.999912	D;D	0.63880	0.993;0.987	D;D	0.71414	0.973;0.95	T	0.74109	-0.3771	10	0.87932	D	0	-7.0503	14.1577	0.65428	0.0:0.0:0.0:1.0	.	288;288	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	288	ENSP00000362687:V288A	ENSP00000362687:V288A	V	+	2	0	DDX50	70343258	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.138000	0.66242	0.379000	0.24179	GTG		0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		79	361	0	0	0	1	0	79	361					C	70673252	T	C	70673252	3	2	79	1	0	0	0	0	1	0	0	0	4379	1696	59	4	885	4	DDX50	10	70673252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58	70673252	64861495	11076	21393											
DDX50	79009	broad.mit.edu	37	chr10	70679738	70679738	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatccacacataaaacagGtaagtctttttttcatgctt	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATAAAACAGGTAAGTCTTTT	0.373																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.e8+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							93	90	91					10																	70679738		2203	4300	6503	SO:0001630	splice_region_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679738G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1239+1G>A	10.37:g.70679738G>A						DDX50_ENST00000466265.1_Splice_Site		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1346	+								Q5VX37|Q8WV76|Q9BWI8	Splice_Site	SNP	ENST00000373585.3	37		CCDS7283.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.448704	0.63178	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1453	0.65347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX50	70349744	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.225000	0.95219	2.056000	0.61249	0.484000	0.47621	.		0.373	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	Intron	105	492	0	0	0	1	0	105	492					A	70679738	G	A	70679738	5	1	79	1	0	0	0	0	0	0	1	0	4379	1275	44	2	1270	2	DDX50	10	70679738	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6486	70679738	64855009	11077	21394											
VPS26A	9559	broad.mit.edu	37	chr10	70892692	70892692	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggtccaatttgtgagatCgatattgttcttaatgatgg	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	14					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(40-42)atC>atT		vacuolar protein sorting 26 homolog A (S. pombe)							85	89	88					10																	70892692		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70892692C>T	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.42C>T	10.37:g.70892692C>T						VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000546041.1_5'UTR	p.I14I			O75436	VP26A_HUMAN			3	695	+			14					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.42C>T	CCDS7286.1																																																																																				0.333	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		78	344	0	0	0	1	0	78	344					T	70892692	C	T	70892692	2	4	79	1	0	0	0	0	0	0	0	1	17251	874	31	1		1	VPS26A	10	70892692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212954	70892692	64642055	11078	21395											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgatgtccttctcccgtGccctattgtgggctcggctc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	6					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCCCGTGCCCTATTGTG	0.697																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(16-18)Gcc>Acc		suppressor of var1, 3-like 1 (S. cerevisiae)							25	29	28					10																	70940063		2202	4299	6501	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940063G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.16G>A	10.37:g.70940063G>A	ENSP00000352678:p.Ala6Thr					SUPV3L1_ENST00000483572.1_3'UTR	p.A6T	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	76	+			6					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.16G>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991774	0.54041	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.37584	1.43;1.19	5.78	4.88	0.63580	.	0.224693	0.37136	N	0.002237	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.49607	T	0.09	0.8932	9.357	0.38173	0.0777:0.1447:0.7775:0.0	.	6	Q8IYB8	SUV3_HUMAN	T	6	ENSP00000352678:A6T;ENSP00000409072:A6T	ENSP00000352678:A6T	A	+	1	0	SUPV3L1	70610069	0.249000	0.23941	0.990000	0.47175	0.886000	0.51366	0.284000	0.18864	1.443000	0.47586	0.655000	0.94253	GCC		0.697	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		52	201	0	0	0	1	0	52	201					A	70940063	G	A	70940063	3	1	79	1	0	0	0	0	1	0	0	0	15454	1319	46	2	18	2	SUPV3L1	10	70940063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47371	70940063	64594684	11079	21396											
SUPV3L1	6832	broad.mit.edu	37	chr10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtgtttctacagctcgtCtcttccaccaagctttcata	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	119					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAGCTCGTCTCTTCCACCA	0.363																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(355-357)Ctc>Atc		suppressor of var1, 3-like 1 (S. cerevisiae)							146	145	146					10																	70946204		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70946204C>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.355C>A	10.37:g.70946204C>A	ENSP00000352678:p.Leu119Ile					SUPV3L1_ENST00000483572.1_3'UTR	p.L119I	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			3	415	+			119					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.355C>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853047	0.91355	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.49513	1.565	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.00824	-1.1551	10	0.52906	T	0.07	-13.5808	20.3151	0.98650	0.0:1.0:0.0:0.0	.	119	Q8IYB8	SUV3_HUMAN	I	119	ENSP00000352678:L119I	ENSP00000352678:L119I	L	+	1	0	SUPV3L1	70616210	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.809000	0.96659	0.467000	0.42956	CTC		0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		75	348	1	0	1.59627e-33	1	1.8927e-33	75	348					A	70946204	C	A	70946204	3	1	79	1	0	0	0	0	1	0	0	0	15454	913	32	3	365	3	SUPV3L1	10	70946204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6141	70946204	64588543	11080	21397											
HKDC1	80201	broad.mit.edu	37	chr10	71008237	71008237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaagctgtgatgtccgCttcctcctgtcagagagtgg	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71008237C>T	ENST00000354624.5	+	10	1456	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	HKDC1_ENST00000395086.2_Silent_p.R441R|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTGATGTCCGCTTCCTCCTGT	0.597																																						ENST00000354624.5																			1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1321-1323)cgC>cgT		hexokinase domain containing 1							54	54	54					10																	71008237		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008237C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1323C>T	10.37:g.71008237C>T						HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Silent_p.R441R	p.R441R	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1456	+			441					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.1323C>T	CCDS7288.1																																																																																				0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		8	460	0	0	0	1	0	8	460					T	71008237	C	T	71008237	2	4	79	1	0	0	0	0	0	0	0	1	7223	784	28	2		2	HKDC1	10	71008237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62033	71008237	64526510	11081	21398											
HK1	3098	broad.mit.edu	37	chr10	71119777	71119777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttatgacaccccagagaaCatcgtgcacggcagtggaag	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000359426.6	+	3	455	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000404387.2_Silent_p.N121N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	117	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(454-456)aaC>aaT		hexokinase 1							107	100	102					10																	71119777		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71119777C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.351C>T	10.37:g.71119777C>T						HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000359426.6_Silent_p.N117N|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.N105N	p.N152N			P19367	HXK1_HUMAN			8	845	+			117			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.456C>T	CCDS7292.1																																																																																				0.562	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		56	331	0	0	0	1	0	56	331					T	71119777	C	T	71119777	2	4	79	1	0	0	0	0	0	0	0	1	7220	477	17	2		2	HK1	10	71119777	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111540	71119777	64414970	11082	21399											
HK1	3098	broad.mit.edu	37	chr10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcattagaagacatccGgacagagtttgacagggaga	13	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000359426.6	+	7	925	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	274	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(925-927)cGg>cAg		hexokinase 1							111	104	106					10																	71129326		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71129326G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.821G>A	10.37:g.71129326G>A	ENSP00000352398:p.Arg274Gln					HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000359426.6_Missense_Mutation_p.R274Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q	p.R309Q			P19367	HXK1_HUMAN			12	1315	+			274			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.926G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595268	0.66219	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.70842	2.15	0.80722	D	1	D;D;D;D;P;P	0.89917	0.976;0.976;1.0;0.979;0.927;0.875	P;B;D;B;B;B	0.71870	0.501;0.397;0.975;0.273;0.245;0.098	D	0.97892	1.0298	10	0.49607	T	0.09	-0.0783	19.0383	0.92987	0.0:0.0:1.0:0.0	.	274;274;273;309;278;262	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	Q	262;309;278;273;273;274;274	ENSP00000353433:R262Q;ENSP00000402103:R309Q;ENSP00000384774:R278Q;ENSP00000415949:R273Q;ENSP00000298649:R273Q;ENSP00000352398:R274Q	ENSP00000298649:R273Q	R	+	2	0	HK1	70799332	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	7.863000	0.87023	2.499000	0.84300	0.563000	0.77884	CGG		0.493	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		57	213	0	0	0	1	0	57	213					A	71129326	G	A	71129326	3	1	79	1	0	0	0	0	1	0	0	0	7220	1116	39	1	1025	1	HK1	10	71129326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9549	71129326	64405421	11083	21400											
HK1	3098	broad.mit.edu	37	chr10	71142486	71142486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgaggaagcagacGcacaacaatgccgtggttaa	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000359426.6	+	10	1613	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000404387.2_Silent_p.T507T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	503	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617																																						ENST00000448642.2																			2	Substitution - coding silent(2)	p.T507T(1)|p.T502T(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1612-1614)acG>acA		hexokinase 1							101	75	84					10																	71142486		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71142486G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1509G>A	10.37:g.71142486G>A						HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000359426.6_Silent_p.T503T|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.T491T	p.T538T			P19367	HXK1_HUMAN			15	2003	+			503			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.1614G>A	CCDS7292.1																																																																																				0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		33	129	0	0	0	1	0	33	129					A	71142486	G	A	71142486	2	1	79	1	0	0	0	0	0	0	0	1	7220	1074	38	1		1	HK1	10	71142486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13160	71142486	64392261	11084	21401											
TACR2	6865	broad.mit.edu	37	chr10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagccggaatccagagCgaaacctgggggagcgaggg	18	9	0	1	rs200471172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	315					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAATCCAGAGCGAAACCTGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18396	0.0		0.001	False		,,,				2504	0.0					ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(943-945)cGc>cAc		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)	C	HIS/ARG	0,4406		0,0,2203	81	70	74		944	4.7	1	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR2	NM_001057.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	315/399	71164835	1,13005	2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71164835C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.944G>A	10.37:g.71164835C>T	ENSP00000362403:p.Arg315His					TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	p.R315H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			5	1487	-			315					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.944G>A	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121827	0.94429	0.0	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.58358	0.34;0.34	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.78889	-0.2026	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9295:0.0:0.0705	.	315	P21452	NK2R_HUMAN	H	103;315	ENSP00000362404:R103H;ENSP00000362403:R315H	ENSP00000362403:R315H	R	-	2	0	TACR2	70834841	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.929000	0.63455	2.625000	0.88918	0.561000	0.74099	CGC		0.622	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			65	243	0	0	0	1	0	65	243					T	71164835	C	T	71164835	3	4	79	1	0	0	0	0	1	0	0	0	15558	768	27	1	256	1	TACR2	10	71164835	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22349	71164835	64369912	11085	21402											
C10orf35	219738	broad.mit.edu	37	chr10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctgctcatgatgCttggtgttcgtggcctcctc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	101						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592																																						ENST00000373279.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(301-303)Ctt>Ttt		chromosome 10 open reading frame 35							205	154	171					10																	71392750		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392750C>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.301C>T	10.37:g.71392750C>T	ENSP00000362376:p.Leu101Phe					C10orf35_ENST00000491890.1_3'UTR	p.L101F	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN			4	460	+			101						Missense_Mutation	SNP	ENST00000373279.4	37	c.301C>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448740	0.43531	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	.	0.109712	0.40640	N	0.001041	T	0.54886	0.1886	L	0.37800	1.135	0.34725	D	0.729148	D	0.61697	0.99	P	0.60068	0.868	T	0.56565	-0.7958	9	0.13108	T	0.6	-22.5095	12.2872	0.54798	0.0:0.8293:0.1707:0.0	.	101	Q96D05	CJ035_HUMAN	F	101	.	ENSP00000362376:L101F	L	+	1	0	C10orf35	71062756	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.426000	0.52778	2.502000	0.84385	0.561000	0.74099	CTT		0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		88	527	0	0	0	1	0	88	527					T	71392750	C	T	71392750	3	4	79	1	0	0	0	0	1	0	0	0	1608	797	28	2	307	2	C10orf35	10	71392750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227915	71392750	64141997	11086	21403											
COL13A1	1305	broad.mit.edu	37	chr10	71634908	71634908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggtgccattgggatgCctggacgtgtggtgagttgg	17	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71634908C>T	ENST00000398978.3	+	5	916	c.424C>T	c.(424-426)Cct>Tct	p.P142S	COL13A1_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000356340.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CATTGGGATGCCTGGACGTGT	0.537																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(424-426)Cct>Tct		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						209	223	218					10																	71634908		2174	4269	6443	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71634908C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.424C>T	10.37:g.71634908C>T	ENSP00000381949:p.Pro142Ser					COL13A1_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398978.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S	p.P142S			Q5TAT6	CODA1_HUMAN			4	960	+			142			Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000398978.3	37	c.424C>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185542	0.57909	.	.	ENSG00000197467	ENST00000398971;ENST00000398968;ENST00000398966;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000517713;ENST00000522165	D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.06;-3.1;-3.16;-3.14;-3.1;-3.22;-3.18;-3.17;-3.19;-3.11;-3.23	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000021	D	0.95258	0.8462	L	0.51914	1.62	0.40217	D	0.977692	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.993;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.994;0.994;0.998;0.979;0.994;0.994;0.994;0.994;0.998;0.998;0.998;0.998;0.998	D	0.95235	0.8346	10	0.51188	T	0.08	-2.9903	14.7298	0.69372	0.0:1.0:0.0:0.0	.	142;142;142;142;142;142;142;142;142;142;142;142;142	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES49;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.	S	142	ENSP00000381943:P142S;ENSP00000381940:P142S;ENSP00000381938:P142S;ENSP00000348695:P142S;ENSP00000381944:P142S;ENSP00000381945:P142S;ENSP00000381949:P142S;ENSP00000346553:P142S;ENSP00000350463:P142S;ENSP00000430061:P142S;ENSP00000428342:P142S	ENSP00000346553:P142S	P	+	1	0	COL13A1	71304914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.931000	0.56529	2.553000	0.86117	0.561000	0.74099	CCT		0.537	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		7	234	0	0	0	1	0	7	234					T	71634908	C	T	71634908	3	4	79	1	0	0	0	0	1	0	0	0	3679	739	26	2	442	2	COL13A1	10	71634908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242158	71634908	63899839	11087	21404											
H2AFY2	55506	broad.mit.edu	37	chr10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaagtcggaaacgatcCtctccccacccccagagaaa	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	128	Lys-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(382-384)Ctc>Atc		H2A histone family, member Y2							91	78	82					10																	71851615		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71851615C>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.382C>A	10.37:g.71851615C>A	ENSP00000362352:p.Leu128Ile						p.L128I	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			4	646	+			128			Lys-rich.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.382C>A	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250032	0.22880	.	.	ENSG00000099284	ENST00000373255	T	0.21932	1.98	5.85	5.85	0.93711	.	0.171146	0.52532	D	0.000065	T	0.13841	0.0335	N	0.16743	0.435	0.46823	D	0.999214	B	0.14438	0.01	B	0.06405	0.002	T	0.09271	-1.0682	10	0.02654	T	1	-2.6828	20.1574	0.98116	0.0:1.0:0.0:0.0	.	128	Q9P0M6	H2AW_HUMAN	I	128	ENSP00000362352:L128I	ENSP00000362352:L128I	L	+	1	0	H2AFY2	71521621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.616000	0.67709	2.941000	0.99782	0.655000	0.94253	CTC		0.577	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		36	272	1	0	8.73648e-17	1	9.61379e-17	36	272					A	71851615	C	A	71851615	3	1	79	1	0	0	0	0	1	0	0	0	6960	681	24	3	392	3	H2AFY2	10	71851615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216707	71851615	63683132	11088	21405											
AIFM2	84883	broad.mit.edu	37	chr10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttacccggcttgtaggCctggagaggccgctgcttca	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	320					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(958-960)Gcc>Acc		apoptosis-inducing factor, mitochondrion-associated, 2							34	33	34					10																	71874688		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874688C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.958G>A	10.37:g.71874688C>T	ENSP00000312370:p.Ala320Thr					AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T	p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			8	1171	-			320					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.958G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	3.098	-0.185301	0.06340	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29917	1.55;1.55	5.8	0.082	0.14427	.	0.472269	0.24683	N	0.036442	T	0.06645	0.0170	N	0.00483	-1.445	0.22142	N	0.999334	B	0.02656	0.0	B	0.06405	0.002	T	0.30736	-0.9968	10	0.27082	T	0.32	-3.5514	3.46	0.07529	0.1884:0.3093:0.0:0.5023	.	320	Q9BRQ8	AIFM2_HUMAN	T	320;320;283	ENSP00000362345:A320T;ENSP00000312370:A320T	ENSP00000312370:A320T	A	-	1	0	AIFM2	71544694	0.324000	0.24652	0.992000	0.48379	0.247000	0.25773	-0.048000	0.11944	0.099000	0.17552	0.563000	0.77884	GCC		0.567	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		32	127	0	0	0	1	0	32	127					T	71874688	C	T	71874688	3	4	79	1	0	0	0	0	1	0	0	0	427	739	26	2	171	2	AIFM2	10	71874688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23073	71874688	63660059	11089	21406											
AIFM2	84883	broad.mit.edu	37	chr10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaacctcattaaacttgCccgggaagggcccagtgctg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D|AIFM2_ENST00000482166.1_5'Flank	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	117					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(349-351)gGc>gAc		apoptosis-inducing factor, mitochondrion-associated, 2							63	61	62					10																	71880912		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71880912C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.350G>A	10.37:g.71880912C>T	ENSP00000312370:p.Gly117Asp					AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D	p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			4	563	-			117					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.350G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209168	0.95069	.	.	ENSG00000042286	ENST00000373248;ENST00000307864	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.79997	-0.1567	10	0.66056	D	0.02	-36.0769	20.4898	0.99202	0.0:1.0:0.0:0.0	.	117	Q9BRQ8	AIFM2_HUMAN	D	117	ENSP00000362345:G117D;ENSP00000312370:G117D	ENSP00000312370:G117D	G	-	2	0	AIFM2	71550918	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.639000	0.74314	2.941000	0.99782	0.655000	0.94253	GGC		0.517	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		67	315	0	0	0	1	0	67	315					T	71880912	C	T	71880912	3	4	79	1	0	0	0	0	1	0	0	0	427	739	26	2	795	2	AIFM2	10	71880912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6224	71880912	63653835	11090	21407											
NODAL	4838	broad.mit.edu	37	chr10	72195385	72195385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcggtgtggggggcCgcggccagcactctccagct	18	13	1	0	rs104894169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72195385C>T	ENST00000287139.3	-	2	547	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P111L	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	183			R -> Q (in HTX5; dbSNP:rs104894169). {ECO:0000269|PubMed:9354794}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGTGGGGGGCCGCGGCCAGCA	0.632													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17564	0.0		0.0	False		,,,				2504	0.0					ENST00000420338.2																			0						GRCh37	CM971053	NODAL	M	rs104894169	c.(331-333)cCg>cTg				C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	30	32	32	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	548	-8.3	0	10	dbSNP_132	32	0,8600		0,0,4300	no	missense	NODAL	NM_018055.4	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	183/348	72195385	3,13003	2203	4300	6503	SO:0001583	missense	0							g.chr10:72195385C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.548G>A	10.37:g.72195385C>T	ENSP00000287139:p.Arg183Gln					NODAL_ENST00000287139.3_Missense_Mutation_p.R183Q	p.P111L							1	801	+								Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.332C>T	CCDS7304.1	4|4	0.0018315018315018315|0.0018315018315018315	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	7.533|7.533	0.659011|0.659011	0.14645|0.14645	6.81E-4|6.81E-4	0.0|0.0	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.84146	.|-1.8;-1.81	5.88|5.88	-8.31|-8.31	0.01001|0.01001	.|.	.|0.620051	.|0.16185	.|N	.|0.225677	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	A|A	9.3728e-12|9.3728e-12	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.50634|0.50634	-0.8805|-0.8805	5|8	0.87932|.	D|.	0|.	.|.	6.8381|6.8381	0.23947|0.23947	0.0877:0.1167:0.1728:0.6229|0.0877:0.1167:0.1728:0.6229	.|.	.|183	.|Q96S42	.|NODAL_HUMAN	L|Q	111|183;128	.|ENSP00000287139:R183Q;ENSP00000394468:R128Q	ENSP00000411125:P111L|.	P|R	+|-	2|2	0|0	AC022532.1|NODAL	71865391|71865391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-1.428000|-1.428000	0.02439|0.02439	-2.063000|-2.063000	0.00890|0.00890	-0.137000|-0.137000	0.14449|0.14449	CCG|CGG		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		7	258	0	0	0	1	0	7	258					T	72195385	C	T	72195385	3	4	79	1	0	0	0	0	1	0	0	0	10560	652	23	1	503	1	NODAL	10	72195385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314473	72195385	63339362	11091	21408											
KIAA1274	27143	broad.mit.edu	37	chr10	72299451	72299451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcttcagccagcaccGcagggcctgtcctggcctca	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72299451G>A	ENST00000263563.6	+	15	2109	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	614						cytosol (GO:0005829)											AGCCAGCACCGCAGGGCCTGT	0.662																																						ENST00000263563.6																			0											c.(1840-1842)cGc>cAc		phosphatase domain containing, paladin 1							76	72	73					10																	72299451		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72299451G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1841G>A	10.37:g.72299451G>A	ENSP00000263563:p.Arg614His						p.R614H	NM_014431.2	NP_055246.2					15	2109	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1841G>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282991	0.23392	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.59	1.63	0.23807	.	0.640598	0.14970	N	0.287846	T	0.20495	0.0493	L	0.39397	1.21	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.27872	-1.0061	10	0.15499	T	0.54	-1.0189	7.2409	0.26096	0.4336:0.0:0.5664:0.0	.	614	Q9ULE6	PALD_HUMAN	H	614	ENSP00000263563:R614H	ENSP00000263563:R614H	R	+	2	0	KIAA1274	71969457	0.055000	0.20627	0.122000	0.21767	0.681000	0.39784	0.530000	0.23036	0.364000	0.24374	0.444000	0.29173	CGC		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		66	359	0	0	0	1	0	66	359					A	72299451	G	A	72299451	3	1	79	1	0	0	0	0	1	0	0	0	8250	1087	38	1	1895	1	KIAA1274	10	72299451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104066	72299451	63235296	11092	21409											
KIAA1274	27143	broad.mit.edu	37	chr10	72307142	72307142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgctggacactgtcagCgagaccatgacgcccatgca	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72307142C>T	ENST00000263563.6	+	18	2470	c.2202C>T	c.(2200-2202)agC>agT	p.S734S		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	734						cytosol (GO:0005829)											ACACTGTCAGCGAGACCATGA	0.647																																						ENST00000263563.6																			0											c.(2200-2202)agC>agT		phosphatase domain containing, paladin 1							153	121	132					10																	72307142		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72307142C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2202C>T	10.37:g.72307142C>T							p.S734S	NM_014431.2	NP_055246.2					18	2470	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.2202C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	6.538	0.467473	0.12402	.	.	ENSG00000107719	ENST00000426268	.	.	.	4.03	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.5918	13.5129	0.61524	0.0:0.3296:0.0:0.6704	.	.	.	.	X	115	.	.	R	+	1	2	KIAA1274	71977148	0.000000	0.05858	0.850000	0.33497	0.582000	0.36321	-2.318000	0.01121	-1.570000	0.01665	-1.360000	0.01215	CGA		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		46	545	0	0	0	1	0	46	545					T	72307142	C	T	72307142	2	4	79	1	0	0	0	0	0	0	0	1	8250	767	27	1		1	KIAA1274	10	72307142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7691	72307142	63227605	11093	21410											
PRF1	5551	broad.mit.edu	37	chr10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactccggtttcctggaGgctcccccagaagcatttgg	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	546					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD040316	PRF1	D		c.(1636-1638)cCt>cTt		perforin 1 (pore forming protein)							53	55	54					10																	72357840		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72357840G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1637C>T	10.37:g.72357840G>A	ENSP00000398568:p.Pro546Leu					PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1797	-			546					B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1637C>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901039	0.33535	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.97	3.14	0.36123	.	0.273424	0.37012	N	0.002299	D	0.87099	0.6093	M	0.66378	2.025	0.40045	D	0.975705	B	0.16603	0.018	B	0.09377	0.004	T	0.79890	-0.1612	10	0.32370	T	0.25	-9.7627	8.3575	0.32340	0.2439:0.0:0.7561:0.0	.	546	P14222	PERF_HUMAN	L	546	ENSP00000362305:P546L;ENSP00000398568:P546L	ENSP00000316746:P546L	P	-	2	0	PRF1	72027846	0.691000	0.27709	0.695000	0.30226	0.527000	0.34593	1.124000	0.31320	0.426000	0.26116	-0.140000	0.14226	CCT		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		60	246	0	0	0	1	0	60	246					A	72357840	G	A	72357840	3	1	79	1	0	0	0	0	1	0	0	0	12525	1000	35	2	34	2	PRF1	10	72357840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50698	72357840	63176907	11094	21411											
ADAMTS14	140766	broad.mit.edu	37	chr10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacccgtacttctgcaagAccaagaaggggcccccgctg	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373207.1	+	10	1552	c.1552A>G	c.(1552-1554)Acc>Gcc	p.T518A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T521A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	518	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTCTGCAAGACCAAGAAGGG	0.612																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1561-1563)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							88	78	82					10																	72496502		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72496502A>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1552A>G	10.37:g.72496502A>G	ENSP00000362303:p.Thr518Ala					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T518A	p.T521A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			10	1561	+			518			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1561A>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440456	0.83993	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.71817	-0.6;-0.6	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.80746	2.51	0.50632	D	0.999885	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.976;0.996	D	0.86221	0.1631	10	0.87932	D	0	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	451;518;521	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	521;518	ENSP00000362304:T521A;ENSP00000362303:T518A	ENSP00000362303:T518A	T	+	1	0	ADAMTS14	72166508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.087000	0.94110	1.993000	0.58246	0.383000	0.25322	ACC		0.612	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		42	266	0	0	0	1	0	42	266					G	72496502	A	G	72496502	3	3	79	1	0	0	0	0	1	0	0	0	259	275	10	4	1599	4	ADAMTS14	10	72496502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138662	72496502	63038245	11095	21412											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccagcctatggaggcCgcctgtgcttagggcccatg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373207.1	+	12	1765	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R592C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTATGGAGGCCGCCTGTGCTT	0.627																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1774-1776)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63	53	56					10																	72500759		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72500759C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1765C>T	10.37:g.72500759C>T	ENSP00000362303:p.Arg589Cys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R589C	p.R592C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			12	1774	+			589			TSP type-1 1.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1774C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367801	0.82463	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03860	3.78;3.78	5.27	5.27	0.74061	.	0.070614	0.56097	D	0.000035	T	0.26521	0.0648	M	0.90425	3.115	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	T	0.01848	-1.1261	10	0.87932	D	0	.	13.6385	0.62235	0.1547:0.8453:0.0:0.0	.	522;589;592	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	C	592;589	ENSP00000362304:R592C;ENSP00000362303:R589C	ENSP00000362303:R589C	R	+	1	0	ADAMTS14	72170765	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	4.316000	0.59178	2.735000	0.93741	0.655000	0.94253	CGC		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		45	197	0	0	0	1	0	45	197					T	72500759	C	T	72500759	3	4	79	1	0	0	0	0	1	0	0	0	259	652	23	1	1820	1	ADAMTS14	10	72500759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4257	72500759	63033988	11096	21413											
SGPL1	8879	broad.mit.edu	37	chr10	72631635	72631635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcatgtcgacgcttgTctgggaggcttcctcatcgt	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TCGACGCTTGTCTGGGAGGCT	0.423																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(949-951)tgT>tgC		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						146	136	139					10																	72631635		2203	4300	6503	SO:0001819	synonymous_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72631635T>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.951T>C	10.37:g.72631635T>C							p.C317C	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			11	1151	+			317					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	c.951T>C	CCDS31216.1																																																																																				0.423	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		125	536	0	0	0	1	0	125	536					C	72631635	T	C	72631635	2	2	79	1	0	0	0	0	0	0	0	1	14268	1673	58	4		4	SGPL1	10	72631635	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130876	72631635	62903112	11097	21414											
UNC5B	219699	broad.mit.edu	37	chr10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaccgcggacccgtgtatGccctgcaggactccaccgac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	458					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1372-1374)Gcc>Acc		unc-5 homolog B (C. elegans)							82	80	81					10																	73051266		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73051266G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1372G>A	10.37:g.73051266G>A	ENSP00000334329:p.Ala458Thr					UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	p.A458T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			10	1788	+			458					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1372G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103661	0.56291	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50548	0.8;0.74	4.47	4.47	0.54385	.	0.204155	0.42964	D	0.000622	T	0.59101	0.2169	M	0.72894	2.215	0.49483	D	0.999795	D;P	0.57257	0.979;0.908	P;B	0.54100	0.742;0.437	T	0.57745	-0.7758	10	0.18276	T	0.48	-29.7656	17.5121	0.87763	0.0:0.0:1.0:0.0	.	447;458	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	458;447	ENSP00000334329:A458T;ENSP00000362288:A447T	ENSP00000334329:A458T	A	+	1	0	UNC5B	72721272	1.000000	0.71417	0.928000	0.36995	0.452000	0.32318	4.325000	0.59234	2.190000	0.69967	0.651000	0.88453	GCC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		98	370	0	0	0	1	0	98	370					A	73051266	G	A	73051266	3	1	79	1	0	0	0	0	1	0	0	0	17046	1319	46	2	1410	2	UNC5B	10	73051266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419631	73051266	62483481	11098	21415											
SLC29A3	55315	broad.mit.edu	37	chr10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttctgtgtcacctacGtcttcttcatcaccagcctc	7	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	315					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)Gtc>Atc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							171	175	174					10																	73121880		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73121880G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.943G>A	10.37:g.73121880G>A	ENSP00000362285:p.Val315Ile					SLC29A3_ENST00000469204.1_3'UTR	p.V315I	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	995	+			315					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.943G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	3.803	-0.041220	0.07452	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.62	-3.16	0.05217	.	0.511061	0.19037	N	0.124400	T	0.44685	0.1305	L	0.52759	1.655	0.31699	N	0.640933	B	0.22146	0.065	B	0.23150	0.044	T	0.28554	-1.0040	9	0.21540	T	0.41	-24.0032	4.6273	0.12484	0.5022:0.161:0.2622:0.0746	.	315	Q9BZD2	S29A3_HUMAN	I	315	ENSP00000362285:V315I	ENSP00000362285:V315I	V	+	1	0	SLC29A3	72791886	0.025000	0.19082	0.012000	0.15200	0.042000	0.13812	0.286000	0.18902	-0.217000	0.10033	-0.140000	0.14226	GTC		0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		233	903	0	0	0	1	0	233	903					A	73121880	G	A	73121880	3	1	79	1	0	0	0	0	1	0	0	0	14586	1145	40	1	969	1	SLC29A3	10	73121880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70614	73121880	62412867	11099	21416											
CDH23	64072	broad.mit.edu	37	chr10	73447448	73447448	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagcaagcccgcctacttCgtctccgtggtggagaacat	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2044-2046)ttC>ttT		cadherin-related 23							48	51	50					10																	73447448		2073	4210	6283	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73447448C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2046C>T	10.37:g.73447448C>T						CDH23_ENST00000299366.7_Silent_p.F722F	p.F682F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			18	2051	+			677			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2046C>T																																																																																					0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		32	148	0	0	0	1	0	32	148					T	73447448	C	T	73447448	2	4	79	1	0	0	0	0	0	0	0	1	3117	883	31	1		1	CDH23	10	73447448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325568	73447448	62087299	11100	21417											
CDH23	64072	broad.mit.edu	37	chr10	73462397	73462397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccacctttcagaacctGccttttgtggccgaggtgct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	893	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCAGAACCTGCCTTTTGTGG	0.562																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2692-2694)ctG>ctA		cadherin-related 23							122	127	125					10																	73462397		1944	4141	6085	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73462397G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2694G>A	10.37:g.73462397G>A						CDH23_ENST00000299366.7_Silent_p.L938L	p.L898L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			23	2699	+			893			Cadherin 9.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2694G>A																																																																																					0.562	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		135	579	0	0	0	1	0	135	579					A	73462397	G	A	73462397	2	1	79	1	0	0	0	0	0	0	0	1	3117	1306	46	2		2	CDH23	10	73462397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14949	73462397	62072350	11101	21418											
CDH23	64072	broad.mit.edu	37	chr10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacaaccctccagtcatcGagagcccctttggatacaat	7	13	1	2	rs201533282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		18011	0.0		0.002	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(4597-4599)Gag>Aag		cadherin-related 23		G	LYS/GLU	0,4074		0,0,2037	83	88	86		4582	4.9	1	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG		0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73500672G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4597G>A	10.37:g.73500672G>A	ENSP00000224721:p.Glu1533Lys						p.E1533K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			36	4602	+			1528			Cadherin 15.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.4597G>A		.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		95	387	0	0	0	1	0	95	387					A	73500672	G	A	73500672	3	1	79	1	0	0	0	0	1	0	0	0	3117	1059	37	1	5069	1	CDH23	10	73500672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38275	73500672	62034075	11102	21419											
C10orf54	64115	broad.mit.edu	37	chr10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgccctcacctgTctgcacctgcagctccatgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	170					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(508-510)Aca>Gca		chromosome 10 open reading frame 54							34	27	29					10																	73521358		2202	4300	6502	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521358T>C	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.508A>G	10.37:g.73521358T>C	ENSP00000378409:p.Thr170Ala					C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	p.T170A	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	566	-			170					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.508A>G	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268732	0.23136	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.42131	0.98	5.75	1.99	0.26369	Immunoglobulin-like fold (1);	0.612772	0.18840	N	0.129705	T	0.28928	0.0718	L	0.40543	1.245	0.25380	N	0.988629	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.18999	-1.0319	10	0.24483	T	0.36	.	6.8447	0.23982	0.0:0.1273:0.234:0.6387	.	166;170	Q2TA85;Q9H7M9	.;GI24_HUMAN	A	170;166	ENSP00000378409:T170A	ENSP00000263569:T166A	T	-	1	0	C10orf54	73191364	0.976000	0.34144	0.549000	0.28204	0.978000	0.69477	1.393000	0.34497	0.085000	0.17107	-0.250000	0.11733	ACA		0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		15	64	0	0	0	1	0	15	64					C	73521358	T	C	73521358	3	2	79	1	0	0	0	0	1	0	0	0	1612	1667	58	4	451	4	C10orf54	10	73521358	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20686	73521358	62013389	11103	21420											
C10orf54	64115	broad.mit.edu	37	chr10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggaacgtgaggttgCggatgggccggcgctctgag	19	9	1	2	rs374460058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	90	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(268-270)cGc>cAc		chromosome 10 open reading frame 54							105	103	104					10																	73521597		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521597C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.269G>A	10.37:g.73521597C>T	ENSP00000378409:p.Arg90His					C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	p.R90H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	327	-			90			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.269G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727148	0.89390	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.58358	0.34	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047659	0.85682	D	0.000000	T	0.70351	0.3214	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.72500	-0.4274	10	0.72032	D	0.01	-15.4596	13.1811	0.59655	0.0:0.9272:0.0:0.0728	.	86;90	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	90;86	ENSP00000378409:R90H	ENSP00000263569:R86H	R	-	2	0	C10orf54	73191603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.720000	0.93068	0.655000	0.94253	CGC		0.657	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		51	241	0	0	0	1	0	51	241					T	73521597	C	T	73521597	3	4	79	1	0	0	0	0	1	0	0	0	1612	768	27	1	690	1	C10orf54	10	73521597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	73521597	62013150	11104	21421											
CDH23	64072	broad.mit.edu	37	chr10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaacgagatccccgacCgtgtgcgcggcttcgaggag	13	12	1	1	rs373602652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000398788.3_Missense_Mutation_p.R727C|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2967	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATCCCCGACCGTGTGCGCGG	0.602																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8914-8916)Cgt>Tgt		cadherin-related 23							95	95	95					10																	73569753		2119	4210	6329	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73569753C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8914C>T	10.37:g.73569753C>T	ENSP00000224721:p.Arg2972Cys					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R727C	p.R2972C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			60	8919	+			2967			Cadherin 27.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8914C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670997	0.47781	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57752	0.38	5.82	4.91	0.64330	Cadherin (1);	0.287586	0.27725	N	0.018109	T	0.37348	0.1000	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.58620	0.983;0.978	B;B	0.39027	0.288;0.226	T	0.32851	-0.9891	10	0.62326	D	0.03	.	7.2417	0.26100	0.288:0.6299:0.0:0.0821	.	2967;2967	E9PEX1;Q9H251	.;CAD23_HUMAN	C	2972;2967;2970;727	ENSP00000381768:R727C	ENSP00000224721:R2972C	R	+	1	0	CDH23	73239759	0.993000	0.37304	0.995000	0.50966	0.693000	0.40251	1.256000	0.32921	2.759000	0.94783	0.549000	0.68633	CGT		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		96	420	0	0	0	1	0	96	420					T	73569753	C	T	73569753	3	4	79	1	0	0	0	0	1	0	0	0	3117	652	23	1	9482	1	CDH23	10	73569753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48156	73569753	61964994	11105	21422											
CDH23	64072	broad.mit.edu	37	chr10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcctgttcctggccgCcatgctctttgtcctcatga	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3080					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCTGGCCGCCATGCTCTTT	0.657																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9253-9255)gCc>gTc		cadherin-related 23							119	128	125					10																	73571308		2158	4240	6398	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571308C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9254C>T	10.37:g.73571308C>T	ENSP00000224721:p.Ala3085Val					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A840V	p.A3085V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			63	9259	+			3080					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9254C>T		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788300	0.49997	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58358	0.34	5.36	5.36	0.76844	.	0.072195	0.53938	D	0.000051	T	0.47173	0.1431	L	0.46157	1.445	0.52099	D	0.999943	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.37709	-0.9694	10	0.40728	T	0.16	.	14.3129	0.66429	0.0:0.9264:0.0:0.0735	.	3080;3080	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3085;3080;3083;840	ENSP00000381768:A840V	ENSP00000224721:A3085V	A	+	2	0	CDH23	73241314	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.146000	0.58072	2.520000	0.84964	0.555000	0.69702	GCC		0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		89	450	0	0	0	1	0	89	450					T	73571308	C	T	73571308	3	4	79	1	0	0	0	0	1	0	0	0	3117	739	26	2	9834	2	CDH23	10	73571308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1555	73571308	61963439	11106	21423											
PSAP	5660	broad.mit.edu	37	chr10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttacctttggctgggGcttgctgcgggggccgtcct	15	11	1	0	rs188854022	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin	189					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		15955	0.002		0.0	False		,,,				2504	0.0					ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(565-567)Ccc>Tcc		prosaposin							40	42	41					10																	73588645		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588645G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.565C>T	10.37:g.73588645G>A	ENSP00000378394:p.Pro189Ser					PSAP_ENST00000394934.1_Missense_Mutation_p.P189S	p.P189S			P07602	SAP_HUMAN			5	712	-			189					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.565C>T	CCDS7311.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.48	1.949636	0.34377	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.70631	-0.5;-0.5	4.53	3.59	0.41128	.	0.289616	0.37715	N	0.001962	T	0.54515	0.1863	L	0.28458	0.855	0.33022	D	0.52902	B	0.21688	0.059	B	0.19148	0.024	T	0.58020	-0.7710	10	0.26408	T	0.33	-0.0286	9.2139	0.37335	0.0:0.1371:0.6563:0.2067	.	189	P07602	SAP_HUMAN	S	189;189;189;189;192;114	ENSP00000378394:P189S;ENSP00000378392:P189S	ENSP00000350063:P189S	P	-	1	0	PSAP	73258651	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.516000	0.35856	1.198000	0.43158	0.313000	0.20887	CCC		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		46	225	0	0	0	1	0	46	225					A	73588645	G	A	73588645	3	1	79	1	0	0	0	0	1	0	0	0	12690	1203	42	2	1065	2	PSAP	10	73588645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17337	73588645	61946102	11107	21424											
PSAP	5660	broad.mit.edu	37	chr10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagagcagagcacaccTccccaggacggctctggtgg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin	130	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(388-390)gAg>gCg		prosaposin							60	61	61					10																	73588821		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588821T>G	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.389A>C	10.37:g.73588821T>G	ENSP00000378394:p.Glu130Ala					PSAP_ENST00000394934.1_Missense_Mutation_p.E130A	p.E130A			P07602	SAP_HUMAN			5	536	-			130			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.389A>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710205	0.48517	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	3.83	0.44106	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.051555	0.85682	D	0.000000	T	0.63721	0.2535	L	0.43152	1.355	0.35697	D	0.815282	P	0.46064	0.872	P	0.45167	0.472	T	0.63681	-0.6582	10	0.13470	T	0.59	-23.1839	5.6585	0.17656	0.2929:0.0:0.1327:0.5744	.	130	P07602	SAP_HUMAN	A	130;130;130;130;133;55	ENSP00000378394:E130A;ENSP00000378392:E130A	ENSP00000350063:E130A	E	-	2	0	PSAP	73258827	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	5.356000	0.66052	0.828000	0.34709	0.260000	0.18958	GAG		0.542	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		49	310	0	0	0	1	0	49	310					G	73588821	T	G	73588821	3	3	79	1	0	0	0	0	1	0	0	0	12690	1551	54	4	1241	4	PSAP	10	73588821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176	73588821	61945926	11108	21425											
CHST3	9469	broad.mit.edu	37	chr10	73767332	73767332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggggggcgccaacgcCgcgggctcggccctggtgta	19	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	181					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCGCCAACGCCGCGGGCTCGG	0.652																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(541-543)gcC>gcT		carbohydrate (chondroitin 6) sulfotransferase 3							20	21	21					10																	73767332		2200	4298	6498	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767332C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.543C>T	10.37:g.73767332C>T							p.A181A	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	980	+			181					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.543C>T	CCDS7312.1																																																																																				0.652	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		12	133	0	0	0	1	0	12	133					T	73767332	C	T	73767332	2	4	79	1	0	0	0	0	0	0	0	1	3414	639	23	1		1	CHST3	10	73767332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178511	73767332	61767415	11109	21426											
ASCC1	51008	broad.mit.edu	37	chr10	73921319	73921319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattcctctttacactgCtgtagcatctcacatgtctg	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTTTACACTGCTGTAGCATCT	0.428																																						ENST00000342444.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						c.(685-687)caG>caA		activating signal cointegrator 1 complex subunit 1							153	140	144					10																	73921319		2203	4300	6503	SO:0001819	synonymous_variant	51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73921319C>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.687G>A	10.37:g.73921319C>T						ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q	p.Q229Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN			7	788	-			229					Q5SW06|Q5SW07|Q96EI8|Q9Y307	Silent	SNP	ENST00000342444.4	37	c.687G>A	CCDS55713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.008|9.008	0.981892|0.981892	0.18812|0.18812	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286	.|.	.|.	.|.	5.6|5.6	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.59266|0.59266	0.2181|0.2181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56559|0.56559	-0.7959|-0.7959	4|4	.|.	.|.	.|.	.|.	9.1805|9.1805	0.37138|0.37138	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	.|.	.|.	.|.	T|N	133|98	.|.	.|.	A|S	-|-	1|2	0|0	ASCC1|ASCC1	73591325|73591325	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	2.272000|2.272000	0.43373|0.43373	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.428	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		32	466	0	0	0	1	0	32	466					T	73921319	C	T	73921319	2	4	79	1	0	0	0	0	0	0	0	1	1032	796	28	2		2	ASCC1	10	73921319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153987	73921319	61613428	11110	21427											
DDIT4	54541	broad.mit.edu	37	chr10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcccaggcgcggctgggctCtcgacgccctgcgcgcctgc	16	18	1	0	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	111					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0.0	5008	,	,		16683	0.0		0.0	False		,,,				2504	0.0					ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(331-333)tCt>tTt		DNA-damage-inducible transcript 4		C	PHE/SER	9,4397	14.3+/-33.2	0,9,2194	64	70	68		332	4	1	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DDIT4	NM_019058.2	155	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	possibly-damaging	111/233	74034579	9,12997	2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74034579C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.332C>T	10.37:g.74034579C>T	ENSP00000307305:p.Ser111Phe		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.S111F	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	533	+			111					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.332C>T	CCDS7315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.53	2.862093	0.51482	0.002043	0.0	ENSG00000168209	ENST00000307365	T	0.47528	0.84	4.96	4.01	0.46588	.	0.296750	0.31884	N	0.006908	T	0.44644	0.1303	L	0.34521	1.04	0.40091	D	0.976251	P	0.42409	0.779	P	0.45946	0.498	T	0.52719	-0.8538	10	0.72032	D	0.01	-11.6794	14.2728	0.66162	0.0:0.8507:0.1493:0.0	.	111	Q9NX09	DDIT4_HUMAN	F	111	ENSP00000307305:S111F	ENSP00000307305:S111F	S	+	2	0	DDIT4	73704585	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	2.756000	0.47549	2.289000	0.77006	0.462000	0.41574	TCT		0.657	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		155	675	0	0	0	1	0	155	675					T	74034579	C	T	74034579	3	4	79	1	0	0	0	0	1	0	0	0	4342	913	32	2	338	2	DDIT4	10	74034579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113260	74034579	61500168	11111	21428											
OIT3	170392	broad.mit.edu	37	chr10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctactgcagacgttgaaGgatgccacaataacaatggt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	226						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGACGTTGAAGGATGCCACAA	0.473																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(676-678)Gga>Tga		oncoprotein induced transcript 3							115	107	110					10																	74671483		2203	4300	6503	SO:0001587	stop_gained	170392					nuclear envelope	calcium ion binding	g.chr10:74671483G>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.676G>T	10.37:g.74671483G>T	ENSP00000333900:p.Gly226*						p.G226*	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			5	894	+	Prostate(51;0.0198)		226					A0AVP3|Q8N1M8	Nonsense_Mutation	SNP	ENST00000334011.5	37	c.676G>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	38	7.028173	0.98013	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.5693	20.2375	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000333900:G226X	G	+	1	0	OIT3	74341489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.019000	0.76412	2.790000	0.95986	0.655000	0.94253	GGA		0.473	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		113	510	1	0	2.20518e-70	1	2.8012e-70	113	510					T	74671483	G	T	74671483	4	4	79	1	0	0	0	0	0	1	0	0	10891	1001	35	3	694	3	OIT3	10	74671483	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636904	74671483	60863264	11112	21429											
P4HA1	5033	broad.mit.edu	37	chr10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttttttctgtctccgaGgggtctaaacataaagttaa	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000307116.2	-	8	1021	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(904-906)cCt>cTt		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						64	64	64					10																	74806855		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806855G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.905C>T	10.37:g.74806855G>A	ENSP00000307318:p.Pro302Leu					P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L	p.P302L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1238	-	Prostate(51;0.0198)		302					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.905C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.137993	0.77775	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49139	0.81;0.82;0.81;0.81;0.82;0.79	5.94	5.94	0.96194	.	0.097977	0.64402	D	0.000001	T	0.58163	0.2103	M	0.81341	2.54	0.80722	D	1	B;P;P	0.40660	0.002;0.726;0.726	B;B;B	0.40864	0.014;0.342;0.236	T	0.63093	-0.6714	10	0.59425	D	0.04	-13.1687	20.369	0.98888	0.0:0.0:1.0:0.0	.	302;302;302	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	L	302	ENSP00000307318:P302L;ENSP00000362099:P302L;ENSP00000411688:P302L;ENSP00000378353:P302L;ENSP00000263556:P302L;ENSP00000414464:P302L	ENSP00000263556:P302L	P	-	2	0	P4HA1	74476861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.607000	0.82883	2.819000	0.97034	0.650000	0.86243	CCT		0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		53	237	0	0	0	1	0	53	237					A	74806855	G	A	74806855	3	1	79	1	0	0	0	0	1	0	0	0	11398	1000	35	2	806	2	P4HA1	10	74806855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135372	74806855	60727892	11113	21430											
DNAJC9	23234	broad.mit.edu	37	chr10	75006444	75006444	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctccagagtcctttAcctttttaaagagtagccgc	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1		DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000479005.1_5'Flank|DNAJC9-AS1_ENST00000513954.1_RNA	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9						social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448																																						ENST00000372950.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6						c.e2+1		DnaJ (Hsp40) homolog, subfamily C, member 9							61	69	66					10																	75006444		2203	4300	6503	SO:0001630	splice_region_variant	23234				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:75006444A>G	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"Heat shock proteins / DNAJ (HSP40)"	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.321+1T>C	10.37:g.75006444A>G								NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN			2	1994	-	Prostate(51;0.0119)							B2RMW6	Splice_Site	SNP	ENST00000372950.4	37		CCDS7322.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365007	0.61513	.	.	ENSG00000213551	ENST00000372950	.	.	.	5.19	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5337	0.44992	0.8373:0.1627:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC9	74676450	1.000000	0.71417	0.776000	0.31678	0.748000	0.42578	9.278000	0.95766	0.877000	0.35895	0.482000	0.46254	.		0.448	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190	Intron	86	335	0	0	0	1	0	86	335					G	75006444	A	G	75006444	5	3	79	1	0	0	0	0	0	0	1	0	4672	405	14	4	475	4	DNAJC9	10	75006444	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199589	75006444	60528303	11114	21431											
TTC18	118491	broad.mit.edu	37	chr10	75101334	75101334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaaataaaatgggataGtccttctacagaaatagata	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000310715.3	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Silent_p.D205D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		205						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(613-615)gaC>gaT		tetratricopeptide repeat domain 18							52	55	54					10																	75101334		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75101334G>A																												ENST00000310715.3:c.615C>T	10.37:g.75101334G>A						TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000310715.3_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Silent_p.D205D	p.D205D			Q5T0N1	TTC18_HUMAN			7	735	-	Prostate(51;0.0119)		205					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.615C>T	CCDS7324.3																																																																																				0.408	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				49	234	0	0	0	1	0	49	234					A	75101334	G	A	75101334	2	1	79	1	0	0	0	0	0	0	0	1	16739	1020	36	2		2	TTC18	10	75101334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94890	75101334	60433413	11115	21432											
TTC18	118491	broad.mit.edu	37	chr10	75107993	75107993	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtttgaaatgaactctgtCctgcaaaaagaagcccaagt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Splice_Site_p.G117V|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Splice_Site_p.G117V|Y_RNA_ENST00000384742.1_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		117						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e5-1		tetratricopeptide repeat domain 18							89	83	85					10																	75107993		2203	4300	6503	SO:0001630	splice_region_variant	118491						binding	g.chr10:75107993C>A																												ENST00000310715.3:c.350-1G>T	10.37:g.75107993C>A						TTC18_ENST00000340329.3_Splice_Site_p.G117_splice|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Splice_Site_p.G117_splice|TTC18_ENST00000310715.3_Splice_Site_p.G117_splice	p.G117_splice			Q5T0N1	TTC18_HUMAN			5	470	-	Prostate(51;0.0119)		117	G -> V (in Ref. 1; CAH10391).				C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	ENST00000310715.3	37	c.349_splice	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130417	0.77549	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	117	Q5T0N1	TTC18_HUMAN	V	117	ENSP00000310829:G117V;ENSP00000384479:G117V;ENSP00000343650:G117V;ENSP00000378334:G117V	ENSP00000310829:G117V	G	-	2	0	TTC18	74777999	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	4.991000	0.63883	2.479000	0.83701	0.557000	0.71058	GGA		0.443	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	57	255	1	0	5.66675e-16	1	6.21002e-16	57	255					A	75107993	C	A	75107993	5	1	79	1	0	0	0	0	0	0	1	0	16739	869	30	3	3111	3	TTC18	10	75107993	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6659	75107993	60426754	11116	21433											
USP54	159195	broad.mit.edu	37	chr10	75277367	75277367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgtggggcagatgaCtctggagatagtgatgagtg	17	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000394811.2_Silent_p.E27E|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	939					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGCAGATGACTCTGGAGATA	0.517																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2815-2817)gaG>gaA		ubiquitin specific peptidase 54							79	72	75					10																	75277367		2203	4300	6503	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277367C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2817G>A	10.37:g.75277367C>T						USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E|RP11-137L10.6_ENST00000595069.1_RNA	p.E939E			Q70EL1	UBP54_HUMAN			19	2917	-	Prostate(51;0.0112)		939					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.2817G>A	CCDS7329.2																																																																																				0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		47	175	0	0	0	1	0	47	175					T	75277367	C	T	75277367	2	4	79	1	0	0	0	0	0	0	0	1	17139	564	20	2		2	USP54	10	75277367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169374	75277367	60257380	11117	21434											
SYNPO2L	79933	broad.mit.edu	37	chr10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgcgcgctggcgctgCtgttcaaagagctgcacccc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	393						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1177-1179)caG>caT		synaptopodin 2-like							53	55	54					10																	75408231		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75408231C>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1179G>T	10.37:g.75408231C>A	ENSP00000378289:p.Gln393His					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.Q393H	p.Q393H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	1328	-	Prostate(51;0.0112)		393					A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1179G>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648146	0.47258	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28069	1.63;2.71;2.71	4.7	4.7	0.59300	.	0.423282	0.23752	N	0.044914	T	0.36358	0.0964	L	0.52573	1.65	0.51012	D	0.999909	B;P	0.40638	0.412;0.725	B;P	0.46940	0.172;0.532	T	0.15464	-1.0436	10	0.66056	D	0.02	-5.8585	11.3228	0.49433	0.0:0.9164:0.0:0.0836	.	393;169	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	169;393;393	ENSP00000361964:Q169H;ENSP00000361963:Q393H;ENSP00000378289:Q393H	ENSP00000361963:Q393H	Q	-	3	2	SYNPO2L	75078237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.166000	0.31834	2.456000	0.83038	0.491000	0.48974	CAG		0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		98	424	1	0	2.32112e-61	1	2.92237e-61	98	424					A	75408231	C	A	75408231	3	1	79	1	0	0	0	0	1	0	0	0	15510	796	28	3	1758	3	SYNPO2L	10	75408231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130864	75408231	60126516	11118	21435											
SEC24C	9632	broad.mit.edu	37	chr10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcctcaacagcacaggCtccttgtggccaggctgcat	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	76					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACAGCACAGGCTCCTTGTGGC	0.517																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(226-228)gCt>gAt		SEC24 family member C							83	70	74					10																	75510920		2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75510920C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.227C>A	10.37:g.75510920C>A	ENSP00000343405:p.Ala76Asp					SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D	p.A76D	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			4	389	+	Prostate(51;0.0112)		76					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.227C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990813	0.35131	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	T;T	0.78246	-1.16;-1.16	5.58	1.53	0.23141	.	0.912535	0.09395	N	0.808044	T	0.54515	0.1863	N	0.08118	0	0.09310	N	0.999997	B	0.23735	0.09	B	0.23419	0.046	T	0.43540	-0.9385	10	0.35671	T	0.21	-0.3216	2.8206	0.05470	0.1174:0.4822:0.1251:0.2752	.	76	P53992	SC24C_HUMAN	D	76	ENSP00000321845:A76D;ENSP00000343405:A76D	ENSP00000343405:A76D	A	+	2	0	SEC24C	75180926	0.844000	0.29557	0.963000	0.40424	0.984000	0.73092	0.228000	0.17814	0.363000	0.24346	0.655000	0.94253	GCT		0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			41	210	1	0	3.09479e-21	1	3.48195e-21	41	210					A	75510920	C	A	75510920	3	1	79	1	0	0	0	0	1	0	0	0	14046	797	28	3	233	3	SEC24C	10	75510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102689	75510920	60023827	11119	21436											
SEC24C	9632	broad.mit.edu	37	chr10	75520113	75520113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacctatgcactccccGcagcagccaggctatcagcc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	273					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCACTCCCCGCAGCAGCCAG	0.557																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(817-819)ccG>ccA		SEC24 family member C							56	61	59					10																	75520113		2203	4300	6503	SO:0001819	synonymous_variant	9632				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|zinc ion binding	g.chr10:75520113G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.819G>A	10.37:g.75520113G>A						SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P	p.P273P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	981	+	Prostate(51;0.0112)		273					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.819G>A	CCDS7332.1																																																																																				0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			83	425	0	0	0	1	0	83	425					A	75520113	G	A	75520113	2	1	79	1	0	0	0	0	0	0	0	1	14046	1074	38	1		1	SEC24C	10	75520113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9193	75520113	60014634	11120	21437											
SEC24C	9632	broad.mit.edu	37	chr10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtctcaggttccttcGgaccagcccggggccctcag	11	16	2	0	rs368086925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	287					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGGTTCCTTCGGACCAGCCCG	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(859-861)Gga>Aga		SEC24 family member C		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	53	61	58		859,859	5.8	1	10		58	0,8600		0,0,4300	no	missense,missense	SEC24C	NM_004922.3,NM_198597.2	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/1095,287/1095	75520479	1,13005	2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75520479G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.859G>A	10.37:g.75520479G>A	ENSP00000343405:p.Gly287Arg					SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R	p.G287R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			7	1021	+	Prostate(51;0.0112)		287					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.859G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989466	0.93106	2.27E-4	0.0	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.25250	1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.78314	0.691;0.991;0.86	T	0.50583	-0.8811	10	0.42905	T	0.14	-6.0416	20.0736	0.97735	0.0:0.0:1.0:0.0	.	145;287;287	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	145;287;287;145	ENSP00000321845:G287R;ENSP00000343405:G287R;ENSP00000402913:G145R	ENSP00000343405:G287R	G	+	1	0	SEC24C	75190485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.542000	0.98086	2.748000	0.94277	0.655000	0.94253	GGA		0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			93	366	0	0	0	1	0	93	366					A	75520479	G	A	75520479	3	1	79	1	0	0	0	0	1	0	0	0	14046	1117	39	1	877	1	SEC24C	10	75520479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	75520479	60014268	11121	21438											
SEC24C	9632	broad.mit.edu	37	chr10	75526270	75526270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggcttcctggtcaaCgtcaatgagtctcgggcagt	13	10	3	1	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	590					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCTGGTCAACGTCAATGAGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20476	0.001		0.0	False		,,,				2504	0.0					ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1768-1770)aaC>aaT		SEC24 family member C		C	,	1,4405	2.1+/-5.4	0,1,2202	84	72	76		1770,1770	-0.2	1	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	590/1095,590/1095	75526270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9632				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|zinc ion binding	g.chr10:75526270C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1770C>T	10.37:g.75526270C>T						SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N	p.N590N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			13	1932	+	Prostate(51;0.0112)		590					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.1770C>T	CCDS7332.1																																																																																				0.502	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			38	170	0	0	0	1	0	38	170					T	75526270	C	T	75526270	2	4	79	1	0	0	0	0	0	0	0	1	14046	535	19	1		1	SEC24C	10	75526270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5791	75526270	60008477	11122	21439											
SEC24C	9632	broad.mit.edu	37	chr10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctttgatgctgtgatgCgggtccggacaagcactggt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	754					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCTGTGATGCGGGTCCGGAC	0.567																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2260-2262)Cgg>Tgg		SEC24 family member C							175	139	151					10																	75528646		2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75528646C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2260C>T	10.37:g.75528646C>T	ENSP00000343405:p.Arg754Trp					SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W	p.R754W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			17	2422	+	Prostate(51;0.0112)		754					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2260C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901965	0.72754	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.72	0.42706	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.90145	3.09	0.80722	D	1	D;D;D	0.67145	0.991;0.994;0.996	P;P;P	0.59115	0.593;0.769;0.852	T	0.70741	-0.4789	10	0.87932	D	0	-8.8039	12.4733	0.55799	0.5246:0.4754:0.0:0.0	.	635;754;754	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	2;754;2;754;635	ENSP00000446174:R2W;ENSP00000321845:R754W;ENSP00000445023:R2W;ENSP00000343405:R754W;ENSP00000402913:R635W	ENSP00000343405:R754W	R	+	1	2	SEC24C	75198652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.691000	0.54720	1.382000	0.46385	0.467000	0.42956	CGG		0.567	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			22	229	0	0	0	1	0	22	229					T	75528646	C	T	75528646	3	4	79	1	0	0	0	0	1	0	0	0	14046	759	27	1	2318	1	SEC24C	10	75528646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	75528646	60006101	11123	21440											
SEC24C	9632	broad.mit.edu	37	chr10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggggacaaaacagtgaCtgtggagttcaagcatgacg	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	790					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAAACAGTGACTGTGGAGTTC	0.557																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2368-2370)aCt>aAt		SEC24 family member C							86	75	79					10																	75528855		2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75528855C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2369C>A	10.37:g.75528855C>A	ENSP00000343405:p.Thr790Asn					SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N	p.T790N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			18	2531	+	Prostate(51;0.0112)		790					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2369C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631187	0.87660	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.77;0.853;0.879	B;B;P	0.51701	0.258;0.444;0.677	D	0.84817	0.0794	10	0.66056	D	0.02	-13.5358	19.8791	0.96888	0.0:1.0:0.0:0.0	.	671;790;790	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	38;790;38;790;671	ENSP00000446174:T38N;ENSP00000321845:T790N;ENSP00000445023:T38N;ENSP00000343405:T790N;ENSP00000402913:T671N	ENSP00000343405:T790N	T	+	2	0	SEC24C	75198861	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.706000	0.92434	0.467000	0.42956	ACT		0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			35	163	1	0	3.90053e-15	1	4.25374e-15	35	163					A	75528855	C	A	75528855	3	1	79	1	0	0	0	0	1	0	0	0	14046	565	20	3	2431	3	SEC24C	10	75528855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	75528855	60005892	11124	21441											
SEC24C	9632	broad.mit.edu	37	chr10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccctgctttacaccagCtgtgcagggcagcgtcggct	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000496827.1_3'UTR|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	815					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTACACCAGCTGTGCAGGGC	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2443-2445)agC>agA		SEC24 family member C							33	30	31					10																	75529125		2203	4300	6503	SO:0001583	missense	9632				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|zinc ion binding	g.chr10:75529125C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2445C>A	10.37:g.75529125C>A	ENSP00000343405:p.Ser815Arg					SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R	p.S815R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			19	2607	+	Prostate(51;0.0112)		815					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2445C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807703	0.70797	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.57	1.64	0.23874	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.80847	2.515	0.80722	D	1	P;D	0.62365	0.951;0.991	P;P	0.58928	0.529;0.848	T	0.47661	-0.9100	10	0.59425	D	0.04	-7.4455	10.4308	0.44407	0.0:0.6285:0.0:0.3715	.	696;815	E7EP00;P53992	.;SC24C_HUMAN	R	63;815;63;815;696	ENSP00000446174:S63R;ENSP00000321845:S815R;ENSP00000445023:S63R;ENSP00000343405:S815R;ENSP00000402913:S696R	ENSP00000343405:S815R	S	+	3	2	SEC24C	75199131	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.774000	0.26675	0.723000	0.32274	0.313000	0.20887	AGC		0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			30	124	1	0	2.61193e-14	1	2.83483e-14	30	124					A	75529125	C	A	75529125	3	1	79	1	0	0	0	0	1	0	0	0	14046	796	28	3	2511	3	SEC24C	10	75529125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	75529125	60005622	11125	21442											
FUT11	170384	broad.mit.edu	37	chr10	75532151	75532151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgctcagtgtctgtgcAgccagcggccatgggtccgt	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_Silent_p.A76A|FUT11_ENST00000394790.1_Silent_p.A20A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	20					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(58-60)gcA>gcG		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							22	23	23					10																	75532151		2197	4294	6491	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75532151A>G	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.60A>G	10.37:g.75532151A>G						AC022400.2_ENST00000595757.1_Silent_p.A76A|FUT11_ENST00000394790.1_Silent_p.A20A	p.A20A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN			1	103	+	Prostate(51;0.0112)		20					Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.60A>G	CCDS7333.1																																																																																				0.731	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		16	76	0	0	0	1	0	16	76					G	75532151	A	G	75532151	2	3	79	1	0	0	0	0	0	0	0	1	6130	175	7	4		4	FUT11	10	75532151	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3026	75532151	60002596	11126	21443											
KIAA0913	23053	broad.mit.edu	37	chr10	75550775	75550775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccacggagccgccagcCgctgctgaatgggcatgtct	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75550775C>T	ENST00000605216.1	+	8	1201	c.984C>T	c.(982-984)gcC>gcT	p.A328A	ZSWIM8_ENST00000604729.1_Silent_p.A328A|ZSWIM8_ENST00000603114.1_Silent_p.A328A|ZSWIM8_ENST00000604524.1_Silent_p.A328A|ZSWIM8_ENST00000398706.2_Silent_p.A328A	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	328							zinc ion binding (GO:0008270)										AGCCGCCAGCCGCTGCTGAAT	0.557																																						ENST00000604729.1																			0											c.(982-984)gcC>gcT		zinc finger, SWIM-type containing 8							58	63	61					10																	75550775		2013	4184	6197	SO:0001819	synonymous_variant	23053							g.chr10:75550775C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.984C>T	10.37:g.75550775C>T						ZSWIM8_ENST00000604524.1_Silent_p.A328A|ZSWIM8_ENST00000603114.1_Silent_p.A328A|ZSWIM8_ENST00000605216.1_Silent_p.A328A|ZSWIM8_ENST00000398706.2_Silent_p.A328A	p.A328A							8	1281	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.984C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.482|5.482	0.273966|0.273966	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000451629|ENST00000433366	.|.	.|.	.|.	5.36|5.36	-7.05|-7.05	0.01573|0.01573	.|.	.|.	.|.	.|.	.|.	T|T	0.37999|0.37999	0.1024|0.1024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43572|0.43572	-0.9383|-0.9383	4|4	.|.	.|.	.|.	-3.7544|-3.7544	3.5968|3.5968	0.08009|0.08009	0.1496:0.3868:0.0871:0.3764|0.1496:0.3868:0.0871:0.3764	.|.	.|.	.|.	.|.	L|C	131|51	.|.	.|.	P|R	+|+	2|1	0|0	KIAA0913|KIAA0913	75220781|75220781	0.000000|0.000000	0.05858|0.05858	0.741000|0.741000	0.31004|0.31004	0.974000|0.974000	0.67602|0.67602	-2.725000|-2.725000	0.00808|0.00808	-1.019000|-1.019000	0.03358|0.03358	-0.469000|-0.469000	0.05056|0.05056	CCG|CGC		0.557	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		18	473	0	0	0	1	0	18	473					T	75550775	C	T	75550775	2	4	79	1	0	0	0	0	0	0	0	1	8230	639	23	1		1	KIAA0913	10	75550775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18624	75550775	59983972	11127	21444											
KIAA0913	23053	broad.mit.edu	37	chr10	75561174	75561174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcctgacgcccatggGcatgatgcagttcaacgaca	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75561174G>A	ENST00000605216.1	+	26	5628	c.5411G>A	c.(5410-5412)gGc>gAc	p.G1804D	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G1801D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1763D|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1622D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1809D|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1804							zinc ion binding (GO:0008270)										ACGCCCATGGGCATGATGCAG	0.587																																						ENST00000604729.1																			0											c.(5401-5403)gGc>gAc		zinc finger, SWIM-type containing 8							78	83	82					10																	75561174		2171	4270	6441	SO:0001583	missense	23053							g.chr10:75561174G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5411G>A	10.37:g.75561174G>A	ENSP00000474748:p.Gly1804Asp					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1622D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1763D|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1804D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1809D	p.G1801D							26	5699	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.5402G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.428584|4.428584	0.83667|0.83667	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|D	.|0.86297	.|-2.1	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|.	.|.	.|.	.|.	D|D	0.94404|0.94404	0.8200|0.8200	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.94218|0.94218	0.7465|0.7465	4|8	.|0.87932	.|D	.|0	-0.3688|-0.3688	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1804;1808;1796;1809	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	T|D	1079|1809	.|ENSP00000381693:G1809D	.|ENSP00000381693:G1809D	A|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75231180|75231180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.824000|9.824000	0.99380|0.99380	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.587	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		49	205	0	0	0	1	0	49	205					A	75561174	G	A	75561174	3	1	79	1	0	0	0	0	1	0	0	0	8230	1203	42	2	5528	2	KIAA0913	10	75561174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10399	75561174	59973573	11128	21445											
C10orf55	414236	broad.mit.edu	37	chr10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgactgtctaaatggaGgaacatgtgtgtccaacaag	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000409178.1	-	4	347	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	3										endometrium(1)	1	Prostate(51;0.0112)					TCTAAATGGAGGAACATGTGT	0.537																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(58-60)Gga>Aga		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						110	98	102					10																	75671996		2203	4300	6503	SO:0001583	missense	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75671996G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.7C>T	10.37:g.75671996G>A	ENSP00000386960:p.Leu3Phe					C10orf55_ENST00000409178.1_Missense_Mutation_p.L3F|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR	p.G20R	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			3	540	+	Prostate(51;0.0112)		37					Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.58G>A	CCDS53541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.07|19.07	3.756491|3.756491	0.69648|0.69648	.|.	.|.	ENSG00000122861|ENSG00000222047	ENST00000446342;ENST00000372764|ENST00000409178;ENST00000412307	D;D|.	0.88509|.	-2.39;-2.39|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46034|0.46034	0.1372|0.1372	N|N	0.08118|0.08118	0|0	0.30985|0.30985	N|N	0.722046|0.722046	D;D;D|D	0.89917|0.76494	1.0;1.0;1.0|0.999	D;D;D|D	0.91635|0.72982	0.999;0.999;0.998|0.979	T|T	0.54682|0.54682	-0.8257|-0.8257	10|8	0.87932|0.87932	D|D	0|0	.|.	15.6365|15.6365	0.76958|0.76958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;37;37|3	E7ET40;B2R7F2;P00749|Q5SWW7	.;.;UROK_HUMAN|CJ055_HUMAN	R|F	20;37|3	ENSP00000388474:G20R;ENSP00000361850:G37R|.	ENSP00000361850:G37R|ENSP00000386960:L3F	G|L	+|-	1|1	0|0	PLAU|C10orf55	75342002|75342002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	5.921000|5.921000	0.70028|0.70028	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CTC		0.537	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		49	253	0	0	0	1	0	49	253					A	75671996	G	A	75671996	3	1	79	1	0	0	0	0	1	0	0	0	1613	1001	35	2	456	2	C10orf55	10	75671996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110822	75671996	59862751	11129	21446											
PLAU	414236	broad.mit.edu	37	chr10	75673487	75673487	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctcatcagcccttgCtgggtgatcagcgccacaca	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75673487C>T	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Silent_p.C181C|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.C217C|PLAU_ENST00000446342.1_Silent_p.C200C	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TCAGCCCTTGCTGGGTGATCA	0.607																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(598-600)tgC>tgT		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						37	42	41					10																	75673487		2203	4299	6502	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673487C>T		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-654G>A	10.37:g.75673487C>T						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Silent_p.C217C|PLAU_ENST00000372762.4_Silent_p.C181C|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	p.C200C	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	1082	+	Prostate(51;0.0112)		217			Peptidase S1.		Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	c.600C>T	CCDS53541.1																																																																																				0.607	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		87	371	0	0	0	1	0	87	371					T	75673487	C	T	75673487	1	4	79	0	1	0	0	0	0	0	0	0	12064	805	28	2		2	PLAU	10	75673487	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1491	75673487	59861260	11130	21447											
VCL	7414	broad.mit.edu	37	chr10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtggtctcggctgctcGtatcttacttaggaaccctg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000211998.4	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R680H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	680	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCGGCTGCTCGTATCTTACTT	0.433																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(2038-2040)cGt>cAt		vinculin							186	148	161					10																	75863594		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75863594G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2039G>A	10.37:g.75863594G>A	ENSP00000211998:p.Arg680His					VCL_ENST00000372755.3_Missense_Mutation_p.R680H|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Intron	p.R680H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			15	2133	+	Prostate(51;0.0112)		680			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.2039G>A	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592370	0.86953	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.80764	0.96;0.797;0.994	T	0.65557	-0.6139	10	0.56958	D	0.05	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	607;680;680	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	680;680;587;607;352	ENSP00000361841:R680H;ENSP00000211998:R680H;ENSP00000415489:R352H	ENSP00000211998:R680H	R	+	2	0	VCL	75533600	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.209000	0.95087	2.788000	0.95919	0.557000	0.71058	CGT		0.433	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		104	436	0	0	0	1	0	104	436					A	75863594	G	A	75863594	3	1	79	1	0	0	0	0	1	0	0	0	17193	1145	40	1	2097	1	VCL	10	75863594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190107	75863594	59671153	11131	21448											
AP3M1	26985	broad.mit.edu	37	chr10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtgtgtccccaacaTtactactgcctagaaaccaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	152					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(454-456)aAt>aGt		adaptor-related protein complex 3, mu 1 subunit							66	60	62					10																	75893913		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75893913T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.455A>G	10.37:g.75893913T>C	ENSP00000347408:p.Asn152Ser					AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			4	766	-	Prostate(51;0.0112)		152					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.455A>G	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972647	0.92919	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.46157	1.445	0.80722	D	1	B;B	0.23058	0.023;0.079	B;B	0.23852	0.024;0.049	T	0.69359	-0.5166	10	0.40728	T	0.16	-22.6387	16.2127	0.82178	0.0:0.0:0.0:1.0	.	98;152	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	S	152	ENSP00000347408:N152S;ENSP00000361831:N152S	ENSP00000347408:N152S	N	-	2	0	AP3M1	75563919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	AAT		0.418	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			48	220	0	0	0	1	0	48	220					C	75893913	T	C	75893913	3	2	79	1	0	0	0	0	1	0	0	0	747	1493	52	4	825	4	AP3M1	10	75893913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30319	75893913	59640834	11132	21449											
MYST4	23522	broad.mit.edu	37	chr10	76603081	76603081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcggctgcgactggggGccaaacgcgctgtgaataat	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76603081G>A	ENST00000287239.4	+	3	955	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	KAT6B_ENST00000372711.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A156T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	156	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCGACTGGGGGCCAAACGCGC	0.527																																						ENST00000287239.4																			0											c.(466-468)Gcc>Acc		K(lysine) acetyltransferase 6B							67	66	66					10																	76603081		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603081G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.466G>A	10.37:g.76603081G>A	ENSP00000287239:p.Ala156Thr					KAT6B_ENST00000372711.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A156T	p.A156T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			3	955	+			156			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.466G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981843	0.74474	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.04	6.04	0.98038	.	0.000000	0.45867	D	0.000338	T	0.38108	0.1028	L	0.37630	1.12	0.43622	D	0.996003	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.69824	0.942;0.922;0.966	T	0.00872	-1.1532	10	0.25106	T	0.35	-10.7748	20.5948	0.99439	0.0:0.0:1.0:0.0	.	156;156;156	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	156	ENSP00000361810:A156T;ENSP00000361809:A156T;ENSP00000287239:A156T;ENSP00000361799:A156T;ENSP00000361796:A156T	ENSP00000287239:A156T	A	+	1	0	KAT6B	76273087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.321000	0.72881	2.873000	0.98535	0.563000	0.77884	GCC		0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		65	289	0	0	0	1	0	65	289					A	76603081	G	A	76603081	3	1	79	1	0	0	0	0	1	0	0	0	10146	1203	42	2	468	2	MYST4	10	76603081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	709168	76603081	58931666	11133	21450											
MYST4	23522	broad.mit.edu	37	chr10	76744928	76744928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacgttgtattatgatgtcGagccattccttttttatgtc	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76744928G>A	ENST00000287239.4	+	12	2953	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	KAT6B_ENST00000372711.1_Missense_Mutation_p.E639K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E530K|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E530K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	822	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTATGATGTCGAGCCATTCCT	0.383																																						ENST00000287239.4																			0											c.(2464-2466)Gag>Aag		K(lysine) acetyltransferase 6B							125	116	119					10																	76744928		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76744928G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2464G>A	10.37:g.76744928G>A	ENSP00000287239:p.Glu822Lys					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.E639K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E530K	p.E822K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			12	2953	+			822			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2464G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945428	0.73672	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80480	-1.35;-1.35;-1.38;-1.35;-1.36	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000114	D	0.92459	0.7606	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.995;0.993;0.986	D	0.92939	0.6370	10	0.87932	D	0	-14.2671	20.6452	0.99591	0.0:0.0:1.0:0.0	.	639;530;822	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	530;530;822;530;639	ENSP00000361810:E530K;ENSP00000361809:E530K;ENSP00000287239:E822K;ENSP00000361799:E530K;ENSP00000361796:E639K	ENSP00000287239:E822K	E	+	1	0	KAT6B	76414934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.885000	0.99019	0.650000	0.86243	GAG		0.383	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		53	226	0	0	0	1	0	53	226					A	76744928	G	A	76744928	3	1	79	1	0	0	0	0	1	0	0	0	10146	1059	37	1	2502	1	MYST4	10	76744928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141847	76744928	58789819	11134	21451											
MYST4	23522	broad.mit.edu	37	chr10	76784866	76784866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgccacagctggagcctAcctgtgagattgaagtggag	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76784866A>G	ENST00000287239.4	+	17	4012	c.3523A>G	c.(3523-3525)Acc>Gcc	p.T1175A	KAT6B_ENST00000372711.1_Missense_Mutation_p.T992A|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.T883A|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.T883A|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.T883A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1175					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCTGGAGCCTACCTGTGAGAT	0.493																																						ENST00000287239.4																			0											c.(3523-3525)Acc>Gcc		K(lysine) acetyltransferase 6B							102	91	95					10																	76784866		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784866A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3523A>G	10.37:g.76784866A>G	ENSP00000287239:p.Thr1175Ala					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.T992A|KAT6B_ENST00000372724.1_Missense_Mutation_p.T883A|KAT6B_ENST00000372725.1_Missense_Mutation_p.T883A|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.T883A	p.T1175A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4012	+			1175					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3523A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087274	0.76642	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78707	2.21;2.21;-1.2;2.21;-1.19	5.8	5.8	0.92144	.	0.000000	0.47455	D	0.000221	D	0.85173	0.5636	L	0.55990	1.75	0.53005	D	0.999961	D;P;D	0.67145	0.996;0.891;0.982	D;P;D	0.76071	0.987;0.543;0.952	D	0.86026	0.1510	10	0.59425	D	0.04	-10.4242	14.7076	0.69203	1.0:0.0:0.0:0.0	.	992;883;1175	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	A	883;883;1175;883;992	ENSP00000361810:T883A;ENSP00000361809:T883A;ENSP00000287239:T1175A;ENSP00000361799:T883A;ENSP00000361796:T992A	ENSP00000287239:T1175A	T	+	1	0	KAT6B	76454872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.186000	0.65082	2.212000	0.71576	0.533000	0.62120	ACC		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		57	261	0	0	0	1	0	57	261					G	76784866	A	G	76784866	3	3	79	1	0	0	0	0	1	0	0	0	10146	391	14	4	3581	4	MYST4	10	76784866	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39938	76784866	58749881	11135	21452											
DUPD1	338599	broad.mit.edu	37	chr10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtactggatgtccatgtCgcggtagtagtcgggcccag	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	103	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGTCCATGTCGCGGTAGTAG	0.657																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(307-309)Gac>Aac		dual specificity phosphatase and pro isomerase domain containing 1							93	85	88					10																	76803669		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803669C>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.307G>A	10.37:g.76803669C>T	ENSP00000340609:p.Asp103Asn						p.D103N	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			2	306	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		103			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.307G>A	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377292	0.42105	.	.	ENSG00000188716	ENST00000338487	T	0.61158	0.13	4.93	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052989	0.64402	D	0.000001	T	0.51176	0.1659	L	0.59967	1.855	0.51482	D	0.999928	B	0.23591	0.088	B	0.19666	0.026	T	0.45644	-0.9247	10	0.29301	T	0.29	-37.7159	11.4852	0.50350	0.0:0.8483:0.0:0.1517	.	103	Q68J44	DUPD1_HUMAN	N	103	ENSP00000340609:D103N	ENSP00000340609:D103N	D	-	1	0	DUPD1	76473675	0.998000	0.40836	0.994000	0.49952	0.446000	0.32137	3.767000	0.55288	1.055000	0.40461	0.650000	0.86243	GAC		0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		16	472	0	0	0	1	0	16	472					T	76803669	C	T	76803669	3	4	79	1	0	0	0	0	1	0	0	0	4820	884	31	1	363	1	DUPD1	10	76803669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	76803669	58731078	11136	21453											
DUSP13	51207	broad.mit.edu	37	chr10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctggagctgccggaGgaagcctgagttagggcaga	16	9	0	3	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000472493.2	-	4	619	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	181	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCTGCCGGAGGAAGCCTGAG	0.622																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(928-930)Ctc>Atc		dual specificity phosphatase 13							71	59	63					10																	76854490		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854490G>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.541C>A	10.37:g.76854490G>T	ENSP00000444580:p.Leu181Ile					DUSP13_ENST00000472493.2_Missense_Mutation_p.L181I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I	p.L310I	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1470	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		172					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.928C>A	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858370	0.91433	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.52364	1.645	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72357	-0.4318	10	0.51188	T	0.08	-4.6071	19.4454	0.94844	0.0:0.0:1.0:0.0	.	231;310;181	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	I	181;181;310;274;130;231	ENSP00000311051:L181I;ENSP00000444580:L181I;ENSP00000436312:L310I;ENSP00000434041:L130I;ENSP00000361785:L231I	ENSP00000311051:L181I	L	-	1	0	DUSP13	76524496	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.287000	0.72671	2.586000	0.87340	0.655000	0.94253	CTC		0.622	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			38	162	1	0	4.0492e-12	1	4.34013e-12	38	162					T	76854490	G	T	76854490	3	4	79	1	0	0	0	0	1	0	0	0	4829	1000	35	3	59	3	DUSP13	10	76854490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50821	76854490	58680257	11137	21454											
DUSP13	51207	broad.mit.edu	37	chr10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagaagtaggcactgAtgtcaaaatcagggaggtcg	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000607009.1_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	112					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGGCACTGATGTCAAAATC	0.607																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(307-309)aTc>aGc		dual specificity phosphatase 13							42	52	49					10																	76867809		2056	4190	6246	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76867809A>C	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.308T>G	10.37:g.76867809A>C	ENSP00000361787:p.Ile103Ser					DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR	p.I103S			Q6B8I1	MDSP_HUMAN			2	371	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		103			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	37	c.308T>G	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927486	0.92389	.	.	ENSG00000079393	ENST00000372702	D	0.87966	-2.32	5.35	5.35	0.76521	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.95007	0.8384	H	0.95574	3.69	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.96270	0.9198	9	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	103	Q6B8I1	MDSP_HUMAN	S	103	ENSP00000361787:I103S	ENSP00000361787:I103S	I	-	2	0	DUSP13	76537815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.420000	0.90256	2.244000	0.73946	0.533000	0.62120	ATC		0.607	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3			36	121	0	0	0	1	0	36	121					C	76867809	A	C	76867809	3	2	79	1	0	0	0	0	1	0	0	0	4829	333	12	4	1162	4	DUSP13	10	76867809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13319	76867809	58666938	11138	21455											
SAMD8	142891	broad.mit.edu	37	chr10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacaggtcaatacttctgCgaaggctctgtagtctgatg	11	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000542569.1	+	4	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.4_Nonsense_Mutation_p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	230					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(688-690)Cga>Tga		sterile alpha motif domain containing 8							309	291	297					10																	76928312		2203	4300	6503	SO:0001587	stop_gained	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928312C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.688C>T	10.37:g.76928312C>T	ENSP00000438042:p.Arg230*					SAMD8_ENST00000372687.3_Nonsense_Mutation_p.R230*|SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*	p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	791	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		230					Q5JSC5|Q5JSC8|Q66K52	Nonsense_Mutation	SNP	ENST00000542569.1	37	c.688C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632714	0.96682	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.208	19.5724	0.95427	0.0:1.0:0.0:0.0	.	.	.	.	X	230;293;230;230	.	ENSP00000361772:R230X	R	+	1	2	SAMD8	76598318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.624000	0.88883	0.650000	0.86243	CGA		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		180	740	0	0	0	1	0	180	740					T	76928312	C	T	76928312	4	4	79	1	0	0	0	0	0	1	0	0	13875	760	27	1	698	1	SAMD8	10	76928312	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60503	76928312	58606435	11139	21456											
SAMD8	142891	broad.mit.edu	37	chr10	76936003	76936003	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttagtgcttctatgcgTattaggtaactagctgcagt	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76936003T>C	ENST00000542569.1	+	5	1046				SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000372687.4_Silent_p.R324R	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTCTATGCGTATTAGGTAAC	0.443																																						ENST00000372687.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(970-972)cgT>cgC		sterile alpha motif domain containing 8							193	169	177					10																	76936003		2203	4300	6503	SO:0001627	intron_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76936003T>C	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.943+29T>C	10.37:g.76936003T>C						SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000542569.1_Intron	p.R324R			Q96LT4	SAMD8_HUMAN			5	1057	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.972T>C	CCDS53543.1																																																																																				0.443	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		105	539	0	0	0	1	0	105	539					C	76936003	T	C	76936003	1	2	79	0	1	0	0	0	0	0	0	0	13875	1625	57	4		4	SAMD8	10	76936003	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7691	76936003	58598744	11140	21457											
KCNMA1	3778	broad.mit.edu	37	chr10	78647147	78647147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttgctggaggactgCgacgagtgggaggaatggga	17	7	2	0	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286628.8	-	28	3587	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.S1200S|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Silent_p.S1138S|KCNMA1_ENST00000404857.1_Silent_p.S1179S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1196					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGGAGGACTGCGACGAGTGGG	0.582																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3412-3414)tcG>tcA		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						100	87	92					10																	78647147		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647147C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3588G>A	10.37:g.78647147C>T						KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000286628.8_Silent_p.S1196S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000404857.1_Silent_p.S1179S	p.S1138S	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4366	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1196					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3414G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828282|0.828282	0.16749|0.16749	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.11|5.11	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50583|0.50583	-0.8811|-0.8811	4|4	.|.	.|.	.|.	-9.7283|-9.7283	10.3757|10.3757	0.44081|0.44081	0.0:0.4673:0.3558:0.1768|0.0:0.4673:0.3558:0.1768	.|.	.|.	.|.	.|.	T|H	1127;846|1089	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78317153|78317153	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.979000|0.979000	0.70002|0.70002	0.538000|0.538000	0.23160|0.23160	-0.168000|-0.168000	0.10853|0.10853	-0.384000|-0.384000	0.06662|0.06662	GCA|CGC		0.582	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		87	374	0	0	0	1	0	87	374					T	78647147	C	T	78647147	2	4	79	1	0	0	0	0	0	0	0	1	8103	755	27	1		1	KCNMA1	10	78647147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1711144	78647147	56887600	11141	21458											
KCNMA1	3778	broad.mit.edu	37	chr10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagcggtccctattggCcagtgtctgcggggtgctgt	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286628.8	-	26	3276	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1035T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1093					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCCTATTGGCCAGTGTCTGC	0.627																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3103-3105)Gcc>Acc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						46	44	44					10																	78651348		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651348C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3277G>A	10.37:g.78651348C>T	ENSP00000286628:p.Ala1093Thr					KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T	p.A1035T	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	4055	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1093			Segment S10.		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3103G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.138016|4.138016|4.138016	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.83992|.|.	-1.77;-1.79;-1.77;-1.78;-1.78;-1.77;-1.77;-1.78;-1.78|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.050022|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60287|0.60287|.	0.2257|0.2257|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;P;B;P;B|.|.	0.76494|.|.	0.999;0.249;0.364;0.892;0.544;0.141;0.539;0.249|.|.	D;B;B;P;B;B;B;B|.|.	0.74674|.|.	0.984;0.119;0.17;0.642;0.17;0.067;0.343;0.082|.|.	T|T|.	0.53927|0.53927|.	-0.8369|-0.8369|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-13.11|-13.11|-13.11	19.4341|19.4341|19.4341	0.94783|0.94783|0.94783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1064;1065;1076;1093;1035;846;1096;1062|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	T|D|X	1035;972;1028;1067;1030;1062;1035;1067;1097;1096;1076;846|1023;742|985	ENSP00000361517:A1035T;ENSP00000361485:A972T;ENSP00000361514:A1028T;ENSP00000396608:A1067T;ENSP00000361520:A1062T;ENSP00000286627:A1035T;ENSP00000385552:A1097T;ENSP00000346321:A1096T;ENSP00000385806:A1076T|.|.	ENSP00000286627:A1035T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78321354|78321354|78321354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.130000|0.130000|0.130000	0.20726|0.20726|0.20726	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|GGC|TGG		0.627	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		24	232	0	0	0	1	0	24	232					T	78651348	C	T	78651348	3	4	79	1	0	0	0	0	1	0	0	0	8103	739	26	2	474	2	KCNMA1	10	78651348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4201	78651348	56883399	11142	21459											
KCNMA1	3778	broad.mit.edu	37	chr10	78943289	78943289	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttatcgttggctgcaataAactgggggaaagaagaaata	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286628.8	-	5	697	c.698T>C	c.(697-699)tTt>tCt	p.F233S	KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000286627.5_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	233					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCTGCAATAAACTGGGGGAA	0.418																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.e5-1		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						56	52	53					10																	78943289		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943289A>G	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.697-1T>C	10.37:g.78943289A>G						KCNMA1_ENST00000354353.5_Splice_Site_p.F233_splice|KCNMA1_ENST00000286628.8_Splice_Site_p.F233_splice|KCNMA1_ENST00000372440.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000372443.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000406533.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000404771.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000404857.1_Splice_Site_p.F233_splice	p.F233_splice	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	1650	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		233					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37	c.696_splice		.	.	.	.	.	.	.	.	.	.	A	26.0	4.695036	0.88830	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;0.998;1.0;0.996;0.998	D	0.99893	1.1140	10	0.87932	D	0	-10.5967	16.3593	0.83251	1.0:0.0:0.0:0.0	.	233;233;233;233;233;233	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.	S	233;170;168;207;170;233;233;207;233;233;233;15	ENSP00000361517:F233S;ENSP00000361485:F170S;ENSP00000361514:F168S;ENSP00000396608:F207S;ENSP00000361520:F233S;ENSP00000286627:F233S;ENSP00000385552:F233S;ENSP00000346321:F233S;ENSP00000385806:F233S	ENSP00000286627:F233S	F	-	2	0	KCNMA1	78613295	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.203000	0.95033	2.267000	0.75376	0.383000	0.25322	TTT		0.418	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Missense_Mutation	26	113	0	0	0	1	0	26	113					G	78943289	A	G	78943289	5	3	79	1	0	0	0	0	0	0	1	0	8103	28	1	4	3280	4	KCNMA1	10	78943289	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	291941	78943289	56591458	11143	21460											
KCNMA1	3778	broad.mit.edu	37	chr10	78944632	78944632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagccatgtcgatctgTaatgtgaaatctttgtagaa	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286628.8	-	4	644	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000286627.5_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	215					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGTCGATCTGTAATGTGAAAT	0.413																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(643-645)ttA>ttG		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						179	161	167					10																	78944632		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78944632T>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.645A>G	10.37:g.78944632T>C						KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000286628.8_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L	p.L215L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		4	1597	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		215					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.645A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.680|7.680	0.688727|0.688727	0.14973|0.14973	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44651|0.44651	-0.9314|-0.9314	4|4	.|.	.|.	.|.	-8.5752|-8.5752	5.3325|5.3325	0.15940|0.15940	0.1298:0.1414:0.0:0.7288|0.1298:0.1414:0.0:0.7288	.|.	.|.	.|.	.|.	A|C	204|166	.|.	.|.	T|Y	-|-	1|2	0|0	KCNMA1|KCNMA1	78614638|78614638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.531000|2.531000	0.45650|0.45650	0.531000|0.531000	0.28639|0.28639	-0.256000|-0.256000	0.11100|0.11100	ACA|TAC		0.413	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		114	434	0	0	0	1	0	114	434					C	78944632	T	C	78944632	2	2	79	1	0	0	0	0	0	0	0	1	8103	1635	57	4		4	KCNMA1	10	78944632	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1343	78944632	56590115	11144	21461											
DLG5	9231	broad.mit.edu	37	chr10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgcctcagcatgtccaCgtcatccttcagccgagtct	7	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	244					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCATGTCCACGTCATCCTTC	0.627																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(730-732)Gtg>Atg		discs, large homolog 5 (Drosophila)							46	35	39					10																	79613246		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613246C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.730G>A	10.37:g.79613246C>T	ENSP00000361467:p.Val244Met					DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	735	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		244					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.730G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654864	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04862	3.57;3.54	4.6	2.7	0.31948	.	0.459506	0.16221	N	0.224044	T	0.01800	0.0057	N	0.01576	-0.805	0.23546	N	0.997444	B	0.31705	0.336	B	0.12837	0.008	T	0.42155	-0.9468	10	0.44086	T	0.13	.	3.1793	0.06579	0.1891:0.495:0.0:0.3159	.	244	Q8TDM6	DLG5_HUMAN	M	244	ENSP00000361467:V244M;ENSP00000361464:V244M	ENSP00000361464:V244M	V	-	1	0	DLG5	79283252	0.855000	0.29742	0.691000	0.30163	0.980000	0.70556	1.338000	0.33873	0.460000	0.27045	0.655000	0.94253	GTG		0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			20	86	0	0	0	1	0	20	86					T	79613246	C	T	79613246	3	4	79	1	0	0	0	0	1	0	0	0	4574	536	19	1	5141	1	DLG5	10	79613246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668614	79613246	55921501	11145	21462											
ZMIZ1	57178	broad.mit.edu	37	chr10	81037008	81037008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagaagagccgccagagCgatccccctgggaaactccc	10	16	1	3	rs373895979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	117					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCGCCAGAGCGATCCCCCTG	0.622																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(349-351)agC>agT		zinc finger, MIZ-type containing 1		C		1,4405	2.1+/-5.4	0,1,2202	54	51	52		351	-0.2	1	10		52	0,8600		0,0,4300	no	coding-synonymous	ZMIZ1	NM_020338.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		117/1068	81037008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81037008C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.351C>T	10.37:g.81037008C>T						ZMIZ1_ENST00000478357.1_3'UTR	p.S117S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		8	923	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		117					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.351C>T	CCDS7357.1																																																																																				0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		55	223	0	0	0	1	0	55	223					T	81037008	C	T	81037008	2	4	79	1	0	0	0	0	0	0	0	1	17749	767	27	1		1	ZMIZ1	10	81037008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1423762	81037008	54497739	11146	21463											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		17	1023						17	1023	---	---	---	---	-	81070789	CTC	-	81070787	7	5	79	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-7651-01A-11D-2154-08	33779	81070787	54463960	11147	21464											
ZCCHC24	219654	broad.mit.edu	37	chr10	81192458	81192458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggagctgaggccatcggcGatgttgttgagggagccata	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372336.3	-	2	489	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R42C	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	101							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617																																						ENST00000372333.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(124-126)Cgc>Tgc		zinc finger, CCHC domain containing 24							93	68	76					10																	81192458		2203	4300	6503	SO:0001819	synonymous_variant	219654						nucleic acid binding|zinc ion binding	g.chr10:81192458G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.303C>T	10.37:g.81192458G>A						ZCCHC24_ENST00000372336.3_Silent_p.I101I	p.R42C			Q8N2G6	ZCH24_HUMAN			2	174	-			21					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.124C>T	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912981	0.17907	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	-0.211	0.13172	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.31535	N	0.660723	B	0.13145	0.007	B	0.09377	0.004	T	0.26643	-1.0097	7	0.87932	D	0	-7.9604	7.8954	0.29704	0.4477:0.0:0.4252:0.1272	.	42	Q5W133	.	C	42	.	ENSP00000361408:R42C	R	-	1	0	ZCCHC24	80862464	0.994000	0.37717	0.856000	0.33681	0.836000	0.47400	0.284000	0.18864	-0.561000	0.06094	-2.048000	0.00412	CGC		0.617	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		38	199	0	0	0	1	0	38	199					A	81192458	G	A	81192458	2	1	79	1	0	0	0	0	0	0	0	1	17641	1048	37	1		1	ZCCHC24	10	81192458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121671	81192458	54342289	11148	21465											
EIF5AL1	143244	broad.mit.edu	37	chr10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggtaccagaggaccttCgtctccctgagggagacctt	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	113					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552																																						ENST00000520547.2																			0				endometrium(1)	1						c.(337-339)Cgt>Tgt		eukaryotic translation initiation factor 5A-like 1							62	74	70					10																	81272742		2199	4295	6494	SO:0001583	missense	143244				mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity	g.chr10:81272742C>T		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.337C>T	10.37:g.81272742C>T	ENSP00000430706:p.Arg113Cys						p.R113C	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		1	386	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		113						Missense_Mutation	SNP	ENST00000520547.2	37	c.337C>T	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265789	0.23136	.	.	ENSG00000253626	ENST00000520547	T	0.47177	0.85	1.02	-2.03	0.07365	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.34106	0.0886	L	0.53617	1.68	0.29802	N	0.832317	B	0.21520	0.057	B	0.17098	0.017	T	0.39522	-0.9610	9	0.59425	D	0.04	.	0.3345	0.00324	0.2341:0.3108:0.234:0.2211	.	113	Q6IS14	IF5AL_HUMAN	C	113	ENSP00000430706:R113C	ENSP00000430706:R113C	R	+	1	0	EIF5AL1	80942748	0.013000	0.17824	0.870000	0.34147	0.417000	0.31264	-0.061000	0.11693	-0.418000	0.07450	-0.604000	0.04097	CGT		0.552	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		45	586	0	0	0	1	0	45	586					T	81272742	C	T	81272742	3	4	79	1	0	0	0	0	1	0	0	0	5061	884	31	1	339	1	EIF5AL1	10	81272742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80284	81272742	54262005	11149	21466											
SFTPA1	653509	broad.mit.edu	37	chr10	81371565	81371565	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctcctgcaggagcagCgactggacccagagccatgt	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81371565C>T	ENST00000398636.3	+	0	122				SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A10V|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000372313.5_Intron	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGAGCAGCGACTGGACCC	0.612																																						ENST00000419470.2																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(28-30)gCg>gTg		surfactant protein A1							163	158	160					10																	81371565		2203	4296	6499	SO:0001623	5_prime_UTR_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371565C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.-17C>T	10.37:g.81371565C>T						SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000372313.5_Intron	p.A10V			Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	105	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		0					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.29C>T	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341619	0.24339	.	.	ENSG00000122852	ENST00000419470	D	0.86497	-2.13	2.46	0.472	0.16758	.	.	.	.	.	T	0.69187	0.3083	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.54997	-0.8209	9	0.26408	T	0.33	.	3.7365	0.08512	0.0:0.5516:0.2856:0.1628	.	10	G5E9J3	.	V	10	ENSP00000397082:A10V	ENSP00000397082:A10V	A	+	2	0	SFTPA1	81041571	0.001000	0.12720	0.012000	0.15200	0.017000	0.09413	0.070000	0.14573	0.129000	0.18514	0.448000	0.29417	GCG		0.612	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		38	739	0	0	0	1	0	38	739					T	81371565	C	T	81371565	1	4	79	0	1	0	0	0	0	0	0	0	14239	768	27	1		1	SFTPA1	10	81371565	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98823	81371565	54163182	11150	21467											
SFTPA1	653509	broad.mit.edu	37	chr10	81372118	81372118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcctggaaatgatgggCtgcctggagcccctggtatc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000398636.3	+	4	361	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	75	Collagen-like.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(223-225)Ctg>Ttg		surfactant protein A1							146	156	153					10																	81372118		2203	4296	6499	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81372118C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.223C>T	10.37:g.81372118C>T						SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L	p.L75L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	361	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		75			Collagen-like.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.223C>T	CCDS44445.1																																																																																				0.607	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		179	770	0	0	0	1	0	179	770					T	81372118	C	T	81372118	2	4	79	1	0	0	0	0	0	0	0	1	14239	796	28	2		2	SFTPA1	10	81372118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553	81372118	54162629	11151	21468											
SFTPD	6441	broad.mit.edu	37	chr10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacctacctttgggcccaGcttctccttttgggcctggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	141	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(421-423)gCt>gAt		surfactant protein D							87	79	82					10																	81702155		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81702155G>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.422C>A	10.37:g.81702155G>T	ENSP00000361366:p.Ala141Asp						p.A141D	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		4	462	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		141			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.422C>A	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875673	0.51695	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.55234	0.53;0.53	5.02	5.02	0.67125	.	0.705366	0.12727	N	0.444178	T	0.41166	0.1147	L	0.28400	0.85	0.39602	D	0.969755	P	0.40476	0.718	B	0.39379	0.298	T	0.17592	-1.0364	10	0.12103	T	0.63	0.1107	13.8133	0.63276	0.0:0.0:1.0:0.0	.	141	P35247	SFTPD_HUMAN	D	141;154	ENSP00000361366:A141D;ENSP00000394325:A154D	ENSP00000361366:A141D	A	-	2	0	SFTPD	81692135	0.071000	0.21146	0.996000	0.52242	0.865000	0.49528	0.992000	0.29667	2.311000	0.77944	0.457000	0.33378	GCT		0.607	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			54	229	1	0	3.37043e-27	1	3.8985e-27	54	229					T	81702155	G	T	81702155	3	4	79	1	0	0	0	0	1	0	0	0	14243	971	34	3	725	3	SFTPD	10	81702155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330037	81702155	53832592	11152	21469											
ANXA11	311	broad.mit.edu	37	chr10	81932582	81932582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgcagctggtgggtaGccacctgggggcgggggata	20	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	12					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGGTGGGTAGCCACCTGGGG	0.597																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(34-36)ggC>ggA		annexin A11							78	81	80					10																	81932582		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81932582G>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.36C>A	10.37:g.81932582G>T						ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000422982.3_Silent_p.G12G	p.G12G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		4	518	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		12					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.36C>A	CCDS7364.1																																																																																				0.597	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		14	499	1	0	2.31682e-05	1	2.36778e-05	14	499					T	81932582	G	T	81932582	2	4	79	1	0	0	0	0	0	0	0	1	716	958	34	3		3	ANXA11	10	81932582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230427	81932582	53602165	11153	21470											
SH2D4B	387694	broad.mit.edu	37	chr10	82331321	82331321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggaggaacgcatccAcgaggaattcaaggtgggcc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82331321A>C	ENST00000470604.2	+	3	479	c.479A>C	c.(478-480)cAc>cCc	p.H160P	SH2D4B_ENST00000339284.2_Missense_Mutation_p.H161P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	160	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAACGCATCCACGAGGAATTC	0.592																																						ENST00000339284.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(481-483)cAc>cCc		SH2 domain containing 4B							66	63	64					10																	82331321		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82331321A>C		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.479A>C	10.37:g.82331321A>C	ENSP00000417953:p.His160Pro					SH2D4B_ENST00000470604.2_Missense_Mutation_p.H160P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P	p.H161P	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		3	912	+			160			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.482A>C		.	.	.	.	.	.	.	.	.	.	A	4.671	0.124666	0.08931	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.11495	2.77;2.77;2.77	5.64	2.0	0.26442	.	0.550749	0.17151	N	0.185041	T	0.05868	0.0153	N	0.11427	0.14	0.09310	N	0.999999	B;D	0.53151	0.209;0.958	B;P	0.44990	0.081;0.466	T	0.33163	-0.9879	10	0.29301	T	0.29	-14.738	5.6807	0.17774	0.702:0.1438:0.1542:0.0	.	112;161	Q5SQS7-3;Q5SQS7-2	.;.	P	161;160;160;112	ENSP00000345295:H161P;ENSP00000417953:H160P;ENSP00000314242:H112P	ENSP00000314242:H112P	H	+	2	0	SH2D4B	82321301	0.984000	0.35163	0.127000	0.21898	0.417000	0.31264	3.202000	0.51067	0.094000	0.17404	0.459000	0.35465	CAC		0.592	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		7	285	0	0	0	1	0	7	285					C	82331321	A	C	82331321	3	2	79	1	0	0	0	0	1	0	0	0	14286	159	6	4	533	4	SH2D4B	10	82331321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	398739	82331321	53203426	11154	21471											
GHITM	27069	broad.mit.edu	37	chr10	85901277	85901277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggctgcaaggctggtGtgtctccggacactaccttc	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85901277G>A	ENST00000372134.3	+	2	214	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	7					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAAGGCTGGTGTGTCTCCGGA	0.468																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(19-21)gtG>gtA		growth hormone inducible transmembrane protein							91	90	90					10																	85901277		1913	4133	6046	SO:0001819	synonymous_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901277G>A	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.21G>A	10.37:g.85901277G>A							p.V7V	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			2	214	+			7					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	c.21G>A	CCDS41542.1																																																																																				0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		14	418	0	0	0	1	0	14	418					A	85901277	G	A	85901277	2	1	79	1	0	0	0	0	0	0	0	1	6399	1364	48	2		2	GHITM	10	85901277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569956	85901277	49633470	11155	21472											
CDHR1	92211	broad.mit.edu	37	chr10	85955302	85955302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggggtcggcagcaccaaCggaaacatggctctgttcag	13	11	2	0	rs143674495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCAGCACCAACGGAAACATGG	0.597													C|||	7	0.00139776	0.0	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0072					ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(106-108)aaC>aaT		cadherin-related family member 1							142	121	128					10																	85955302		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85955302C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.108C>T	10.37:g.85955302C>T						CDHR1_ENST00000332904.3_Silent_p.N36N	p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			2	211	+			36			Cadherin 1.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.108C>T	CCDS7372.1																																																																																				0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		12	151	0	0	0	1	0	12	151					T	85955302	C	T	85955302	2	4	79	1	0	0	0	0	0	0	0	1	3127	535	19	1		1	CDHR1	10	85955302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54025	85955302	49579445	11156	21473											
CDHR1	92211	broad.mit.edu	37	chr10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtcctcatctccaccGccaccttctggcgcaacaag	6	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	722					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2164-2166)Gcc>Acc		cadherin-related family member 1							64	70	68					10																	85973961		2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973961G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2164G>A	10.37:g.85973961G>A	ENSP00000361189:p.Ala722Thr					CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T|CDHR1_ENST00000332904.3_Intron	p.A722T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2267	+			722					Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2164G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544279	0.96488	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58652	0.56;0.32	5.53	5.53	0.82687	.	0.094075	0.64402	D	0.000001	T	0.75148	0.3810	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69479	0.9;0.964	T	0.75852	-0.3171	10	0.52906	T	0.07	-17.1913	18.2273	0.89921	0.0:0.0:1.0:0.0	.	426;722	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	722;426	ENSP00000361189:A722T;ENSP00000415980:A426T	ENSP00000361189:A722T	A	+	1	0	CDHR1	85963941	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.632000	0.83247	2.596000	0.87737	0.561000	0.74099	GCC		0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		121	512	0	0	0	1	0	121	512					A	85973961	G	A	85973961	3	1	79	1	0	0	0	0	1	0	0	0	3127	1087	38	1	2230	1	CDHR1	10	85973961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18659	85973961	49560786	11157	21474											
CDHR1	92211	broad.mit.edu	37	chr10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcccagaaagctctctgCtcccgagagctccggctctc	9	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	788	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2362-2364)Ctc>Atc		cadherin-related family member 1							88	85	86					10																	85974159		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974159C>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2362C>A	10.37:g.85974159C>A	ENSP00000361189:p.Leu788Ile					CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I|CDHR1_ENST00000332904.3_Intron	p.L788I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2465	+			788			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2362C>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127601	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56275	0.63;0.47	5.49	3.6	0.41247	.	0.193736	0.56097	D	0.000028	T	0.32224	0.0822	N	0.14661	0.345	0.21220	N	0.999757	B;B	0.18610	0.001;0.029	B;B	0.13407	0.0;0.009	T	0.14200	-1.0481	10	0.16896	T	0.51	-21.5171	11.5494	0.50713	0.1411:0.7231:0.1357:0.0	.	492;788	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	788;492	ENSP00000361189:L788I;ENSP00000415980:L492I	ENSP00000361189:L788I	L	+	1	0	CDHR1	85964139	0.501000	0.26099	0.518000	0.27811	0.416000	0.31233	2.253000	0.43205	0.653000	0.30826	0.591000	0.81541	CTC		0.592	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		85	723	1	0	7.68447e-34	1	9.12355e-34	85	723					A	85974159	C	A	85974159	3	1	79	1	0	0	0	0	1	0	0	0	3127	797	28	3	2428	3	CDHR1	10	85974159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	85974159	49560588	11158	21475											
CDHR1	92211	broad.mit.edu	37	chr10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccaccacccagcgtgGcgcccagcactggcgcagcc	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	801	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2401-2403)Gcg>Acg		cadherin-related family member 1							83	88	86					10																	85974198		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974198G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2401G>A	10.37:g.85974198G>A	ENSP00000361189:p.Ala801Thr					CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T|CDHR1_ENST00000332904.3_Intron	p.A801T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2504	+			801			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2401G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833474	0.32421	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56776	0.61;0.44	5.49	2.03	0.26663	.	0.963762	0.08721	N	0.903404	T	0.40222	0.1108	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.017;0.418	B;B	0.27380	0.004;0.079	T	0.33650	-0.9860	10	0.49607	T	0.09	-16.1193	4.2007	0.10464	0.143:0.1398:0.5748:0.1425	.	505;801	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	801;505	ENSP00000361189:A801T;ENSP00000415980:A505T	ENSP00000361189:A801T	A	+	1	0	CDHR1	85964178	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	1.349000	0.33998	0.643000	0.30638	-0.282000	0.10007	GCG		0.602	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		170	734	0	0	0	1	0	170	734					A	85974198	G	A	85974198	3	1	79	1	0	0	0	0	1	0	0	0	3127	1203	42	2	2467	2	CDHR1	10	85974198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	85974198	49560549	11159	21476											
LRIT2	340745	broad.mit.edu	37	chr10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcagaaaggttcccaGggatctttcccaaggagaca	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(148-150)cCt>cTt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							62	68	66					10																	85984832		2174	4290	6464	SO:0001583	missense	340745					integral to membrane		g.chr10:85984832G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.149C>T	10.37:g.85984832G>A	ENSP00000361185:p.Pro50Leu					LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	154	-			50			LRRNT.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.149C>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977243	0.34848	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60920	0.15;0.15	5.71	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.121035	0.56097	D	0.000024	T	0.50905	0.1643	M	0.64567	1.98	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.41236	0.351;0.351	T	0.51585	-0.8687	10	0.59425	D	0.04	.	8.0511	0.30579	0.118:0.0:0.7202:0.1618	.	50;50	B7ZME6;A6NDA9	.;LRIT2_HUMAN	L	50	ENSP00000361185:P50L;ENSP00000438264:P50L	ENSP00000361185:P50L	P	-	2	0	LRIT2	85974812	1.000000	0.71417	0.563000	0.28383	0.537000	0.34900	5.317000	0.65822	0.603000	0.29913	0.585000	0.79938	CCT		0.453	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		64	338	0	0	0	1	0	64	338					A	85984832	G	A	85984832	3	1	79	1	0	0	0	0	1	0	0	0	8986	1000	35	2	1511	2	LRIT2	10	85984832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	85984832	49549915	11160	21477											
LRIT1	26103	broad.mit.edu	37	chr10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggcggcccaggggcCtgaaggcctcgccaggaacc	15	16	0	1	rs371581070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	80						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(238-240)aGg>aTg		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1		C	MET/ARG	0,4298		0,0,2149	17	21	20		239	-0.9	0	10		20	1,8437		0,1,4218	no	missense	LRIT1	NM_015613.2	91	0,1,6367	AA,AC,CC		0.0119,0.0,0.0079	benign	80/624	85997326	1,12735	2149	4219	6368	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997326C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.239G>T	10.37:g.85997326C>A	ENSP00000361177:p.Arg80Met						p.R80M	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			2	260	-			80					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.239G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086511	0.36855	0.0	1.19E-4	ENSG00000148602	ENST00000372105	T	0.52983	0.64	5.42	-0.953	0.10362	.	1.510790	0.03923	N	0.283947	T	0.42471	0.1204	M	0.73319	2.225	0.09310	N	1	P	0.37101	0.582	B	0.37198	0.243	T	0.23726	-1.0180	10	0.33141	T	0.24	.	0.1121	0.00057	0.3439:0.22:0.1707:0.2655	.	80	Q9P2V4	LRIT1_HUMAN	M	80	ENSP00000361177:R80M	ENSP00000361177:R80M	R	-	2	0	LRIT1	85987306	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	0.770000	0.26618	-0.040000	0.13580	0.650000	0.86243	AGG		0.721	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		40	199	1	0	1.59361e-14	1	1.73214e-14	40	199					A	85997326	C	A	85997326	3	1	79	1	0	0	0	0	1	0	0	0	8985	681	24	3	1644	3	LRIT1	10	85997326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12494	85997326	49537421	11161	21478											
RGR	5995	broad.mit.edu	37	chr10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgctgcaccctggactactCcaagggggacaggtgaggtg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	167					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(511-513)tCc>tAc		retinal G protein coupled receptor							59	46	50					10																	86012754		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86012754C>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.512C>A	10.37:g.86012754C>A	ENSP00000352427:p.Ser171Tyr					RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	p.S171Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			4	550	+			167					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.512C>A	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452780	0.63290	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175561	0.64402	D	0.000013	T	0.52208	0.1720	L	0.56769	1.78	0.49213	D	0.999762	D;D;B	0.89917	0.96;1.0;0.051	P;D;B	0.70935	0.6;0.971;0.102	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.1354	0.59405	0.0:0.7335:0.2664:0.0	.	167;171;167	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	Y	171;167	ENSP00000352427:S171Y;ENSP00000350823:S167Y	ENSP00000350823:S167Y	S	+	2	0	RGR	86002734	0.997000	0.39634	0.990000	0.47175	0.971000	0.66376	1.366000	0.34193	2.667000	0.90743	0.655000	0.94253	TCC		0.577	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		43	174	1	0	3.4345e-17	1	3.7875e-17	43	174					A	86012754	C	A	86012754	3	1	79	1	0	0	0	0	1	0	0	0	13341	855	30	3	526	3	RGR	10	86012754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15428	86012754	49521993	11162	21479											
GRID1	2894	broad.mit.edu	37	chr10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgccgtcggcctgggcgCtggcatggctggtgaggtca	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	818					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGCCTGGGCGCTGGCATGGCT	0.647										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2452-2454)aGc>aAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						66	73	70					10																	87373312		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373312C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2453G>A	10.37:g.87373312C>T	ENSP00000330148:p.Ser818Asn	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	p.S818N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			15	2538	-			818					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2453G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344150	0.24339	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15017	2.64;2.46	5.74	4.84	0.62591	Ionotropic glutamate receptor (1);	0.732309	0.14818	N	0.296678	T	0.08403	0.0209	N	0.10645	0.015	0.21675	N	0.999598	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.22706	T	0.39	.	7.7553	0.28921	0.0:0.7523:0.0:0.2477	.	818	Q9ULK0	GRID1_HUMAN	N	818;389	ENSP00000330148:S818N;ENSP00000444455:S389N	ENSP00000330148:S818N	S	-	2	0	GRID1	87363292	0.002000	0.14202	0.856000	0.33681	0.776000	0.43924	0.701000	0.25616	1.433000	0.47394	0.650000	0.86243	AGC		0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		98	419	0	0	0	1	0	98	419					T	87373312	C	T	87373312	3	4	79	1	0	0	0	0	1	0	0	0	6801	797	28	2	584	2	GRID1	10	87373312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1360558	87373312	48161435	11163	21480											
GRID1	2894	broad.mit.edu	37	chr10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgctgatgctgttgcCgatgacagtcaccgagcagt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATGCTGTTGCCGATGACAGTC	0.582										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2284-2286)Ggc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						131	96	108					10																	87379700		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87379700C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2284G>A	10.37:g.87379700C>T	ENSP00000330148:p.Gly762Ser	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	p.G762S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			14	2369	-			762					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2284G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851330	0.71719	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14640	2.49;2.49	5.28	1.4	0.22301	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.199677	0.52532	N	0.000065	T	0.21227	0.0511	M	0.85542	2.76	0.80722	D	1	P	0.45715	0.865	B	0.43194	0.411	T	0.03555	-1.1025	10	0.59425	D	0.04	.	9.3267	0.37997	0.0:0.7095:0.0:0.2905	.	762	Q9ULK0	GRID1_HUMAN	S	762;333	ENSP00000330148:G762S;ENSP00000444455:G333S	ENSP00000330148:G762S	G	-	1	0	GRID1	87369680	0.902000	0.30710	0.140000	0.22221	0.797000	0.45037	1.842000	0.39250	-0.002000	0.14469	-0.291000	0.09656	GGC		0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		27	263	0	0	0	1	0	27	263					T	87379700	C	T	87379700	3	4	79	1	0	0	0	0	1	0	0	0	6801	652	23	1	757	1	GRID1	10	87379700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6388	87379700	48155047	11164	21481											
GRID1	2894	broad.mit.edu	37	chr10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggagttcacggaagattCgccacctgcgggaggcagac	14	11	1	2	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ACGGAAGATTCGCCACCTGCG	0.602										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1864-1866)Gaa>Aaa		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	101	74	83		1864	5.8	0.1	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRID1	NM_017551.2	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	622/1010	87482893	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87482893C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1864G>A	10.37:g.87482893C>T	ENSP00000330148:p.Glu622Lys	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	p.E622K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			12	1949	-			622					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1864G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036777	0.97226	2.27E-4	1.16E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54071	0.59;0.59	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.358222	0.33959	N	0.004383	T	0.57036	0.2026	M	0.83774	2.66	0.80722	D	1	P	0.39847	0.691	B	0.31390	0.129	T	0.66516	-0.5904	10	0.72032	D	0.01	.	19.0942	0.93242	0.0:1.0:0.0:0.0	.	622	Q9ULK0	GRID1_HUMAN	K	622;193	ENSP00000330148:E622K;ENSP00000444455:E193K	ENSP00000330148:E622K	E	-	1	0	GRID1	87472873	1.000000	0.71417	0.118000	0.21660	0.398000	0.30690	7.743000	0.85020	2.762000	0.94881	0.561000	0.74099	GAA		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		30	151	0	0	0	1	0	30	151					T	87482893	C	T	87482893	3	4	79	1	0	0	0	0	1	0	0	0	6801	893	31	1	1185	1	GRID1	10	87482893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103193	87482893	48051854	11165	21482											
GRID1	2894	broad.mit.edu	37	chr10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccttcctgcacagcCtggaatgggttgttggcctc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	74					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTGCACAGCCTGGAATGGGT	0.627										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(220-222)caG>caT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						242	154	183					10																	88123711		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88123711C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.222G>T	10.37:g.88123711C>A	ENSP00000330148:p.Gln74His	Multiple Myeloma(13;0.14)					p.Q74H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			2	307	-			74					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.222G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477742	0.44044	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	4.96	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.194154	0.33382	N	0.004973	T	0.69895	0.3162	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60667	-0.7218	10	0.25106	T	0.35	.	5.0502	0.14505	0.1782:0.6465:0.0:0.1754	.	74	Q9ULK0	GRID1_HUMAN	H	74	ENSP00000330148:Q74H	ENSP00000330148:Q74H	Q	-	3	2	GRID1	88113691	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.223000	0.58587	1.087000	0.41251	-0.347000	0.07816	CAG		0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		47	295	1	0	2.13883e-14	1	2.32436e-14	47	295					A	88123711	C	A	88123711	3	1	79	1	0	0	0	0	1	0	0	0	6801	680	24	3	2867	3	GRID1	10	88123711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640818	88123711	47411036	11166	21483											
WAPAL	23063	broad.mit.edu	37	chr10	88211754	88211754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggacagcatgaacttgTccacctatccttaaactatc	6	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1028	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(3082-3084)ggA>ggG		wings apart-like homolog (Drosophila)							169	143	152					10																	88211754		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88211754T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3084A>G	10.37:g.88211754T>C						WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	p.G1028G	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			15	3556	-			1028			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.3084A>G	CCDS7375.1																																																																																				0.408	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		81	351	0	0	0	1	0	81	351					C	88211754	T	C	88211754	2	2	79	1	0	0	0	0	0	0	0	1	17302	1654	58	4		4	WAPAL	10	88211754	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88043	88211754	47322993	11167	21484											
OPN4	94233	broad.mit.edu	37	chr10	88419688	88419688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctgcaagggcaatggCgagtccctgtggcagcggca	18	11	0	0	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000241891.5	+	6	1004	c.837C>T	c.(835-837)ggC>ggT	p.G279G	OPN4_ENST00000372071.2_Silent_p.G290G	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	279					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(868-870)ggC>ggT		opsin 4							103	75	84					10																	88419688		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419688C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.837C>T	10.37:g.88419688C>T						OPN4_ENST00000241891.5_Silent_p.G279G	p.G290G	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			7	1097	+			279					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.870C>T	CCDS7376.1																																																																																				0.632	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		49	267	0	0	0	1	0	49	267					T	88419688	C	T	88419688	2	4	79	1	0	0	0	0	0	0	0	1	10924	755	27	1		1	OPN4	10	88419688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	88419688	47115059	11168	21485											
LDB3	11155	broad.mit.edu	37	chr10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgatgaagaagctctgCgaaggtcaaggtaagtgcct	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000361373.4	+	6	907	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1090-1092)Cga>Tga		LIM domain binding 3							134	114	121					10																	88452318		2203	4300	6503	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88452318C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.886C>T	10.37:g.88452318C>T	ENSP00000355296:p.Arg296*					LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.R296*	p.R364*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			8	1235	+			361						Nonsense_Mutation	SNP	ENST00000361373.4	37	c.1090C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985369	0.97173	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	.	.	.	5.92	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8726	0.63629	0.6723:0.3277:0.0:0.0	.	.	.	.	X	296;364;249;249;249;364;296;296	.	ENSP00000263066:R249X	R	+	1	2	LDB3	88442298	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	2.550000	0.45811	0.828000	0.34709	0.655000	0.94253	CGA		0.607	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			82	395	0	0	0	1	0	82	395					T	88452318	C	T	88452318	4	4	79	1	0	0	0	0	0	1	0	0	8728	760	27	1	1143	1	LDB3	10	88452318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32630	88452318	47082429	11169	21486											
BMPR1A	657	broad.mit.edu	37	chr10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attactcttcttttaggattCtccaaaagcccagctacgcc	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	113					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"Mis, N, F"	"bone morphogenetic protein receptor, type IA"			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(337-339)tCt>tAt		bone morphogenetic protein receptor, type IA							63	65	64					10																	88659555		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88659555C>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.338C>A	10.37:g.88659555C>A	ENSP00000361107:p.Ser113Tyr						p.S113Y	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			6	875	+			113					A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.338C>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739875	0.69304	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.90444	-2.67	5.2	5.2	0.72013	TGF-beta receptor/activin receptor, type I/II (1);	0.060693	0.64402	D	0.000002	D	0.93562	0.7945	M	0.62266	1.93	0.80722	D	1	D	0.55385	0.971	P	0.62491	0.903	D	0.92920	0.6354	10	0.42905	T	0.14	.	16.0145	0.80427	0.0:1.0:0.0:0.0	.	113	P36894	BMR1A_HUMAN	Y	113	ENSP00000361107:S113Y	ENSP00000224764:S113Y	S	+	2	0	BMPR1A	88649535	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.954000	0.76001	2.585000	0.87301	0.563000	0.77884	TCT		0.353	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		54	232	1	0	3.31993e-32	1	3.91856e-32	54	232					A	88659555	C	A	88659555	3	1	79	1	0	0	0	0	1	0	0	0	1471	913	32	3	352	3	BMPR1A	10	88659555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207237	88659555	46875192	11170	21487											
MMRN2	79812	broad.mit.edu	37	chr10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcggaagtagccaTgttcagggaagtagctgctg	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	859	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2575-2577)cAt>cGt		multimerin 2							111	94	100					10																	88696774		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88696774T>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2576A>G	10.37:g.88696774T>C	ENSP00000361097:p.His859Arg						p.H859R	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			7	2649	-			859			C1q.		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2576A>G	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368757	0.61624	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.74737	-0.87	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.369029	0.25750	N	0.028548	D	0.85418	0.5692	M	0.80028	2.48	0.36349	D	0.859949	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.968	D	0.89244	0.3586	10	0.51188	T	0.08	-9.9338	13.1707	0.59595	0.0:0.0:0.0:1.0	.	637;859	E7EN39;Q9H8L6	.;MMRN2_HUMAN	R	859;637	ENSP00000361097:H859R	ENSP00000361097:H859R	H	-	2	0	MMRN2	88686754	0.988000	0.35896	0.195000	0.23364	0.970000	0.65996	2.644000	0.46613	1.858000	0.53909	0.456000	0.33151	CAT		0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		16	288	0	0	0	1	0	16	288					C	88696774	T	C	88696774	3	2	79	1	0	0	0	0	1	0	0	0	9712	1464	51	4	277	4	MMRN2	10	88696774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37219	88696774	46837973	11171	21488											
MMRN2	79812	broad.mit.edu	37	chr10	88702615	88702615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcccgctagcggcgtcCtgcagggccacgcggatctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.5	-	6	2247	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	642					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1924-1926)caG>caT		multimerin 2							11	11	11					10																	88702615		2165	4266	6431	SO:0001583	missense	79812					extracellular space		g.chr10:88702615C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1926G>T	10.37:g.88702615C>A	ENSP00000361097:p.Gln642His						p.Q642H	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1999	-			642					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1926G>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	6.797	0.516103	0.12944	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15487	2.42	5.24	1.94	0.25998	.	1.250660	0.05698	N	0.593613	T	0.19967	0.0480	L	0.51422	1.61	0.09310	N	0.999997	D;P;P	0.57899	0.981;0.855;0.855	P;B;B	0.45195	0.473;0.359;0.258	T	0.22034	-1.0228	10	0.49607	T	0.09	-6.1725	6.6801	0.23115	0.2805:0.5612:0.0:0.1583	.	420;581;642	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	H	642;420	ENSP00000361097:Q642H	ENSP00000361097:Q642H	Q	-	3	2	MMRN2	88692595	0.000000	0.05858	0.330000	0.25442	0.023000	0.10783	0.287000	0.18920	0.572000	0.29383	-0.391000	0.06502	CAG		0.741	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		5	50	1	0	0.014758	1	0.0148251	5	50					A	88702615	C	A	88702615	3	1	79	1	0	0	0	0	1	0	0	0	9712	680	24	3	931	3	MMRN2	10	88702615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5841	88702615	46832132	11172	21489											
MMRN2	79812	broad.mit.edu	37	chr10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggcctcctgagcctTgtgcagcctcttcaatttgg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	342					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1024-1026)Aag>Cag		multimerin 2							56	59	58					10																	88703517		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88703517T>G	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1024A>C	10.37:g.88703517T>G	ENSP00000361097:p.Lys342Gln						p.K342Q	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1097	-			342					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1024A>C	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947118	0.53186	.	.	ENSG00000173269	ENST00000372027	T	0.70164	-0.46	4.96	4.96	0.65561	.	0.221156	0.34603	N	0.003839	T	0.76521	0.3999	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.66084	0.941;0.941	T	0.67397	-0.5681	10	0.28530	T	0.3	-38.1567	10.4972	0.44785	0.0:0.0:0.1627:0.8372	.	281;342	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	Q	342	ENSP00000361097:K342Q	ENSP00000361097:K342Q	K	-	1	0	MMRN2	88693497	.	.	0.133000	0.22050	0.927000	0.56198	.	.	1.859000	0.53934	0.379000	0.24179	AAG		0.647	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		57	243	0	0	0	1	0	57	243					G	88703517	T	G	88703517	3	3	79	1	0	0	0	0	1	0	0	0	9712	1821	63	4	1833	4	MMRN2	10	88703517	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	902	88703517	46831230	11173	21490											
MMRN2	79812	broad.mit.edu	37	chr10	88703541	88703541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcctcttcaatttggtgtCcacatcggcttggagctctg	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	ENST00000372027.5	-	6	1321	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	334					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1000-1002)Gac>Aac		multimerin 2							58	61	60					10																	88703541		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88703541C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1000G>A	10.37:g.88703541C>T	ENSP00000361097:p.Asp334Asn						p.D334N	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1073	-			334					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1000G>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819059	0.50633	.	.	ENSG00000173269	ENST00000372027	T	0.69806	-0.43	5.06	3.19	0.36642	.	0.137298	0.44097	D	0.000491	T	0.61751	0.2372	M	0.65498	2.005	0.09310	N	1	P;P	0.52316	0.583;0.952	B;B	0.40636	0.144;0.335	T	0.57201	-0.7852	10	0.54805	T	0.06	-29.529	10.4158	0.44320	0.0:0.8491:0.0:0.1509	.	273;334	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	N	334	ENSP00000361097:D334N	ENSP00000361097:D334N	D	-	1	0	MMRN2	88693521	0.855000	0.29742	0.038000	0.18304	0.895000	0.52256	1.714000	0.37961	0.517000	0.28361	0.462000	0.41574	GAC		0.632	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		65	264	0	0	0	1	0	65	264					T	88703541	C	T	88703541	3	4	79	1	0	0	0	0	1	0	0	0	9712	855	30	2	1857	2	MMRN2	10	88703541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	88703541	46831206	11174	21491											
AGAP11	119385	broad.mit.edu	37	chr10	88768262	88768262	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccacgcccatttgcaagCagtccatgggctggtccaac	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	ENST00000444431.1	+	0	2862				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CATTTGCAAGCAGTCCATGGG	0.547																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							145	157	153					10																	88768262		2181	4295	6476			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768262C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768262C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2862	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.547	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		101	953	0	0	0	1	0	101	953					T	88768262	C	T	88768262	1	4	79	0	1	0	0	0	0	0	0	0	367	711	25	2		2	AGAP11	10	88768262	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64721	88768262	46766485	11175	21492											
AGAP11	119385	broad.mit.edu	37	chr10	88769136	88769136	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagtcttggcacccGcctttcccgtgtgcgatctc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	ENST00000444431.1	+	0	3736				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CTTGGCACCCGCCTTTCCCGT	0.522																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							170	190	183					10																	88769136		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769136G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769136G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3736	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.522	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		271	1181	0	0	0	1	0	271	1181					A	88769136	G	A	88769136	1	1	79	0	1	0	0	0	0	0	0	0	367	1087	38	1		1	AGAP11	10	88769136	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	874	88769136	46765611	11176	21493											
FAM35A	54537	broad.mit.edu	37	chr10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttttccagaggcagTatacagttatagaggacaga	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298784.1	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298786.4_Missense_Mutation_p.V612A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1834-1836)gTa>gCa		family with sequence similarity 35, member A							54	53	53					10																	88930603		2203	4298	6501	SO:0001583	missense	54537							g.chr10:88930603T>C	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1835T>C	10.37:g.88930603T>C	ENSP00000298784:p.Val612Ala					FAM35A_ENST00000298784.1_Missense_Mutation_p.V612A	p.V612A			Q86V20	FA35A_HUMAN			6	1949	+			612					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.1835T>C	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	6.964	0.547799	0.13312	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.63580	-0.05;-0.05;-0.05	4.05	1.68	0.24146	.	0.921660	0.09014	N	0.861050	T	0.49423	0.1556	L	0.34521	1.04	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.41770	-0.9490	10	0.48119	T	0.1	0.1994	6.7529	0.23497	0.0:0.2922:0.0:0.7078	.	612	Q86V20	FA35A_HUMAN	A	612	ENSP00000298786:V612A;ENSP00000298784:V612A;ENSP00000351064:V612A	ENSP00000298784:V612A	V	+	2	0	FAM35A	88920583	0.007000	0.16637	0.026000	0.17262	0.969000	0.65631	0.482000	0.22276	0.235000	0.21160	0.491000	0.48974	GTA		0.393	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		64	279	0	0	0	1	0	64	279					C	88930603	T	C	88930603	3	2	79	1	0	0	0	0	1	0	0	0	5578	1638	57	4	1849	4	FAM35A	10	88930603	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161467	88930603	46604144	11177	21494											
FAM35A	54537	broad.mit.edu	37	chr10	88940025	88940025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacaaacaatgttttagCtgcttgccatttactatgaa	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	ENST00000298784.1	+	7	2271	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	FAM35A_ENST00000298786.4_Silent_p.S788S	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	719										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATGTTTTAGCTGCTTGCCAT	0.323																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2362-2364)agC>agT		family with sequence similarity 35, member A							21	25	24					10																	88940025		2187	4275	6462	SO:0001819	synonymous_variant	54537							g.chr10:88940025C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2157C>T	10.37:g.88940025C>T						FAM35A_ENST00000298784.1_Silent_p.S719S	p.S788S			Q86V20	FA35A_HUMAN			8	2478	+			719					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2364C>T	CCDS7383.1																																																																																				0.323	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		51	235	0	0	0	1	0	51	235					T	88940025	C	T	88940025	2	4	79	1	0	0	0	0	0	0	0	1	5578	796	28	2		2	FAM35A	10	88940025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9422	88940025	46594722	11178	21495											
FAM35A	54537	broad.mit.edu	37	chr10	88946903	88946903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccgtgtagaatcaaagCtgatagagaagattcttctc	9	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298784.1	+	8	2368	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	FAM35A_ENST00000298786.4_Silent_p.L821L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2461-2463)Ctg>Ttg		family with sequence similarity 35, member A							155	130	138					10																	88946903		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88946903C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2254C>T	10.37:g.88946903C>T						FAM35A_ENST00000298784.1_Silent_p.L752L	p.L821L			Q86V20	FA35A_HUMAN			9	2575	+			752					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2461C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795558	0.16327	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	-0.513	0.11962	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.36929	D	0.891807	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-4.7816	4.7335	0.12977	0.4:0.4123:0.0:0.1877	.	.	.	.	V	475	.	.	A	+	2	0	FAM35A	88936883	0.229000	0.23729	0.362000	0.25862	0.629000	0.37895	-0.559000	0.05971	0.136000	0.18733	0.194000	0.17425	GCT		0.383	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		46	258	0	0	0	1	0	46	258					T	88946903	C	T	88946903	2	4	79	1	0	0	0	0	0	0	0	1	5578	796	28	2		2	FAM35A	10	88946903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6878	88946903	46587844	11179	21496											
FAM22A	728118	broad.mit.edu	37	chr10	88988216	88988216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagaacaggatggctgCggcccgagtggggccggggc	20	10	0	2	rs372485168	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88988216C>T	ENST00000381707.2	+	2	962	c.579C>T	c.(577-579)tgC>tgT	p.C193C	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Silent_p.C193C	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	193																	AGGATGGCTGCGGCCCGAGTG	0.657													.|||	3	0.000599042	0.0	0.0014	5008	,	,		23551	0.0		0.002	False		,,,				2504	0.0					ENST00000381689.4																			0											c.(577-579)tgC>tgT		NUT family member 2A		C		0,3644		0,0,1822	36	43	41		579	-2.6	0	10		41	2,8126		0,2,4062	no	coding-synonymous	FAM22A	NM_001099338.1		0,2,5884	TT,TC,CC		0.0246,0.0,0.017		193/879	88988216	2,11770	1822	4064	5886	SO:0001819	synonymous_variant	728118							g.chr10:88988216C>T		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"family with sequence similarity 22, member A"	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.579C>T	10.37:g.88988216C>T						NUTM2A_ENST00000381707.2_Silent_p.C193C|NUTM2A-AS1_ENST00000451940.2_RNA	p.C193C							2	910	+								A6NMX5|C9JDI1|Q5VZW1	Silent	SNP	ENST00000381707.2	37	c.579C>T	CCDS44452.1																																																																																				0.657	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		53	651	0	0	0	1	0	53	651					T	88988216	C	T	88988216	2	4	79	1	0	0	0	0	0	0	0	1	5564	776	27	1		1	FAM22A	10	88988216	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41313	88988216	46546531	11180	21497											
PAPSS2	9060	broad.mit.edu	37	chr10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgctgatgctggtctgGtctgcattaccagctttatt	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	116					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGCTGGTCTGGTCTGCATTAC	0.448																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(346-348)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							98	91	93					10																	89473032		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89473032G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.346G>A	10.37:g.89473032G>A	ENSP00000354436:p.Val116Ile					PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000482258.1_3'UTR	p.V116I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	715	+		Melanoma(5;0.019)|Colorectal(252;0.123)	116					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.346G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341184	0.24339	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.74842	-0.88;-0.88;-0.88	5.78	1.9	0.25705	Adenylylsulphate kinase, C-terminal (3);	0.167857	0.52532	N	0.000075	T	0.47820	0.1466	N	0.04959	-0.14	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.002	T	0.23226	-1.0194	10	0.08599	T	0.76	-13.2731	10.4387	0.44452	0.2627:0.0:0.7373:0.0	.	116;116	O95340;O95340-2	PAPS2_HUMAN;.	I	116;116;120;115	ENSP00000354436:V116I;ENSP00000406157:V116I;ENSP00000397123:V120I	ENSP00000354436:V116I	V	+	1	0	PAPSS2	89463012	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	3.235000	0.51328	0.097000	0.17492	0.591000	0.81541	GTC		0.448	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			69	333	0	0	0	1	0	69	333					A	89473032	G	A	89473032	3	1	79	1	0	0	0	0	1	0	0	0	11477	1261	44	2	356	2	PAPSS2	10	89473032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484816	89473032	46061715	11181	21498											
PAPSS2	9060	broad.mit.edu	37	chr10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataagacacggctggaagGgtgcagcaagtttgtcctgg	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGGCTGGAAGGGTGCAGCAAG	0.512																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(934-936)gGg>gAg		3'-phosphoadenosine 5'-phosphosulfate synthase 2							138	109	119					10																	89487110		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89487110G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.935G>A	10.37:g.89487110G>A	ENSP00000354436:p.Gly312Glu					PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E	p.G312E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	8	1304	+		Melanoma(5;0.019)|Colorectal(252;0.123)	312					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.935G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018327	0.35606	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.19394	2.15;2.15;2.15	5.74	4.74	0.60224	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.136189	0.64402	N	0.000002	T	0.16128	0.0388	L	0.39020	1.185	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.21151	0.033;0.003	T	0.06826	-1.0805	10	0.16420	T	0.52	-21.1853	10.3775	0.44090	0.1616:0.0:0.8384:0.0	.	312;317	O95340;O95340-2	PAPS2_HUMAN;.	E	312;317;316;316	ENSP00000354436:G312E;ENSP00000406157:G317E;ENSP00000397123:G316E	ENSP00000354436:G312E	G	+	2	0	PAPSS2	89477090	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.538000	0.60650	1.259000	0.44117	0.561000	0.74099	GGG		0.512	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			53	254	0	0	0	1	0	53	254					A	89487110	G	A	89487110	3	1	79	1	0	0	0	0	1	0	0	0	11477	1232	43	2	984	2	PAPSS2	10	89487110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14078	89487110	46047637	11182	21499											
RNLS	55328	broad.mit.edu	37	chr10	90122337	90122337	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcttcttattatcaatggaGacgaagcgtatgcagggatt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000331772.4	-	5	694	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.V141V|RNLS_ENST00000371947.3_Silent_p.V224V	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(670-672)gtC>gtA		renalase, FAD-dependent amine oxidase							161	153	156					10																	90122337		2203	4300	6503	SO:0001819	synonymous_variant	55328					extracellular region	oxidoreductase activity	g.chr10:90122337G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.672C>A	10.37:g.90122337G>T						RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.V224V|RNLS_ENST00000437752.1_Silent_p.V141V	p.V224V	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	2011	-			224					Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	37	c.672C>A	CCDS31239.1																																																																																				0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		59	323	1	0	9.64103e-21	1	1.08239e-20	59	323					T	90122337	G	T	90122337	2	4	79	1	0	0	0	0	0	0	0	1	13555	929	33	3		3	RNLS	10	90122337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	635227	90122337	45412410	11183	21500											
LIPJ	142910	broad.mit.edu	37	chr10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttaaaaaattcattggttCaaagctgtgtccactacaga	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	212					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTCATTGGTTCAAAGCTGTGT	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(634-636)tCa>tTa		lipase, family member J							74	87	82					10																	90356605		2203	4294	6497	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90356605C>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.635C>T	10.37:g.90356605C>T	ENSP00000361007:p.Ser212Leu						p.S212L	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	949	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	212					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.635C>T	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895376	0.33442	.	.	ENSG00000204022	ENST00000371939	T	0.64991	-0.13	4.12	3.21	0.36854	Alpha/beta hydrolase fold-1 (1);	1.015460	0.07928	N	0.977014	T	0.50922	0.1644	L	0.31157	0.91	0.09310	N	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.36383	-0.9750	10	0.27785	T	0.31	-32.74	11.1249	0.48312	0.0:0.9061:0.0:0.0939	.	212	Q5W064	LIPJ_HUMAN	L	212	ENSP00000361007:S212L	ENSP00000361007:S212L	S	+	2	0	LIPJ	90346585	0.002000	0.14202	0.044000	0.18714	0.241000	0.25554	1.670000	0.37502	1.092000	0.41356	0.585000	0.79938	TCA		0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		106	446	0	0	0	1	0	106	446					T	90356605	C	T	90356605	3	4	79	1	0	0	0	0	1	0	0	0	8859	838	29	2	657	2	LIPJ	10	90356605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234268	90356605	45178142	11184	21501											
LIPF	8513	broad.mit.edu	37	chr10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaatggctaaatatgAccttccagccacaatcgact	7	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000238983.4	+	5	492	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000394375.3_Missense_Mutation_p.D159G|LIPF_ENST00000608620.1_Missense_Mutation_p.D116G	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	149					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	GCTAAATATGACCTTCCAGCC	0.378																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(475-477)gAc>gGc		lipase, gastric							167	157	160					10																	90429617		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90429617A>G	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.446A>G	10.37:g.90429617A>G	ENSP00000238983:p.Asp149Gly					LIPF_ENST00000355843.2_Missense_Mutation_p.D116G|LIPF_ENST00000238983.4_Missense_Mutation_p.D149G	p.D159G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	6	589	+		Colorectal(252;0.0161)	149					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.476A>G	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395450	0.83011	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.79940	-1.32;-1.32;-1.32	5.07	5.07	0.68467	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000015	D	0.94627	0.8268	H	0.99794	4.785	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.998;0.997;0.999	D	0.96729	0.9538	10	0.87932	D	0	-31.7369	13.9526	0.64129	1.0:0.0:0.0:0.0	.	116;159;126;149	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	G	159;149;116	ENSP00000377900:D159G;ENSP00000238983:D149G;ENSP00000348101:D116G	ENSP00000238983:D149G	D	+	2	0	LIPF	90419597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.110000	0.64415	0.528000	0.53228	GAC		0.378	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			119	517	0	0	0	1	0	119	517					G	90429617	A	G	90429617	3	3	79	1	0	0	0	0	1	0	0	0	8855	275	10	4	460	4	LIPF	10	90429617	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73012	90429617	45105130	11185	21502											
LIPF	8513	broad.mit.edu	37	chr10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattctacccacacaacttcTttgatcaatttcttgctact	2	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000238983.4	+	7	755	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000394375.3_Missense_Mutation_p.F247V|LIPF_ENST00000608620.1_Missense_Mutation_p.F204V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	237					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	ACACAACTTCTTTGATCAATT	0.368																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(739-741)Ttt>Gtt		lipase, gastric							179	182	181					10																	90433384		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90433384T>G	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.709T>G	10.37:g.90433384T>G	ENSP00000238983:p.Phe237Val					LIPF_ENST00000355843.2_Missense_Mutation_p.F204V|LIPF_ENST00000238983.4_Missense_Mutation_p.F237V	p.F247V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	8	852	+		Colorectal(252;0.0161)	237					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.739T>G	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913032	0.72983	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.58652	0.32;0.32;0.32	5.17	2.71	0.32032	Alpha/beta hydrolase fold-1 (1);	0.635334	0.14697	N	0.303773	T	0.52869	0.1761	L	0.41824	1.3	0.09310	N	1	B;B;B;P	0.34412	0.018;0.398;0.036;0.453	B;P;B;P	0.46758	0.098;0.495;0.098;0.526	T	0.45220	-0.9276	10	0.31617	T	0.26	-4.4579	4.1726	0.10336	0.1504:0.1639:0.0:0.6857	.	204;247;214;237	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	247;237;204	ENSP00000377900:F247V;ENSP00000238983:F237V;ENSP00000348101:F204V	ENSP00000238983:F237V	F	+	1	0	LIPF	90423364	0.027000	0.19231	0.067000	0.19924	0.952000	0.60782	0.731000	0.26058	0.975000	0.38392	0.533000	0.62120	TTT		0.368	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			144	686	0	0	0	1	0	144	686					G	90433384	T	G	90433384	3	3	79	1	0	0	0	0	1	0	0	0	8855	1609	56	4	731	4	LIPF	10	90433384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	90433384	45101363	11186	21503											
LIPF	8513	broad.mit.edu	37	chr10	90438204	90438204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttgtgttttctagtcCcaacctccctactacaatgt	4	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000238983.4	+	10	1009	c.963C>T	c.(961-963)tcC>tcT	p.S321S	LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000394375.3_Silent_p.S331S|LIPF_ENST00000608620.1_Silent_p.S288S	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	321					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TTTTCTAGTCCCAACCTCCCT	0.443																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(991-993)tcC>tcT		lipase, gastric							183	168	173					10																	90438204		2203	4300	6503	SO:0001819	synonymous_variant	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90438204C>T	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.963C>T	10.37:g.90438204C>T						LIPF_ENST00000355843.2_Silent_p.S288S|LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000238983.4_Silent_p.S321S	p.S331S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	11	1106	+		Colorectal(252;0.0161)	321					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	c.993C>T	CCDS7389.1																																																																																				0.443	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			38	884	0	0	0	1	0	38	884					T	90438204	C	T	90438204	2	4	79	1	0	0	0	0	0	0	0	1	8855	610	22	2		2	LIPF	10	90438204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4820	90438204	45096543	11187	21504											
ANKRD22	118932	broad.mit.edu	37	chr10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttattgtggggtctgcaCgggcttccaagagcagaggg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	158										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GGGGTCTGCACGGGCTTCCAA	0.463																																						ENST00000371930.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(472-474)cGt>cAt		ankyrin repeat domain 22							110	111	111					10																	90583062		2203	4300	6503	SO:0001583	missense	118932							g.chr10:90583062C>T	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"Ankyrin repeat domain containing"	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.473G>A	10.37:g.90583062C>T	ENSP00000360998:p.Arg158His					ANKRD22_ENST00000476963.1_5'UTR	p.R158H	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	5	683	-		Colorectal(252;0.0163)	158					B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	37	c.473G>A	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095487	0.20471	.	.	ENSG00000152766	ENST00000371930	T	0.53206	0.63	5.57	-3.61	0.04556	Ankyrin repeat-containing domain (4);	0.758317	0.13380	N	0.392249	T	0.28665	0.0710	N	0.17594	0.5	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.49607	T	0.09	-0.0029	12.4555	0.55702	0.0:0.4531:0.0:0.5469	.	158	Q5VYY1	ANR22_HUMAN	H	158	ENSP00000360998:R158H	ENSP00000360998:R158H	R	-	2	0	ANKRD22	90573042	0.226000	0.23696	0.327000	0.25402	0.421000	0.31385	-0.047000	0.11963	-0.922000	0.03789	-1.044000	0.02363	CGT		0.463	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		21	418	0	0	0	1	0	21	418					T	90583062	C	T	90583062	3	4	79	1	0	0	0	0	1	0	0	0	651	536	19	1	110	1	ANKRD22	10	90583062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144858	90583062	44951685	11188	21505											
STAMBPL1	57559	broad.mit.edu	37	chr10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaaagtgatgcaaccAattatgctagccactctcct	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371926.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	237						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGATGCAACCAATTATGCTAG	0.453																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(709-711)Aat>Gat		STAM binding protein-like 1							93	88	90					10																	90673146		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90673146A>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.709A>G	10.37:g.90673146A>G	ENSP00000360994:p.Asn237Asp					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.N237D	p.N237D			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1667	+		Colorectal(252;0.0381)	237					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.709A>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759925	0.03019	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22743	1.96;1.94;1.96;1.95	5.43	4.27	0.50696	.	0.906390	0.09756	N	0.759943	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.29701	-1.0003	10	0.12103	T	0.63	-1.1119	7.3428	0.26646	0.8548:0.0:0.1452:0.0	.	237;237	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	D	237;237;237;71	ENSP00000360994:N237D;ENSP00000360995:N237D;ENSP00000360992:N237D;ENSP00000360990:N71D	ENSP00000360990:N71D	N	+	1	0	STAMBPL1	90663126	0.000000	0.05858	0.166000	0.22797	0.183000	0.23260	0.537000	0.23144	2.189000	0.69895	0.528000	0.53228	AAT		0.453	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		118	447	0	0	0	1	0	118	447					G	90673146	A	G	90673146	3	3	79	1	0	0	0	0	1	0	0	0	15303	130	5	4	727	4	STAMBPL1	10	90673146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90084	90673146	44861601	11189	21506											
ACTA2	59	broad.mit.edu	37	chr10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggatggctggaacagggtcTctgggcagcggaaacgttca	16	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	261					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GAACAGGGTCTCTGGGCAGCG	0.532																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(781-783)gAg>gTg		actin, alpha 2, smooth muscle, aorta							127	115	119					10																	90699290		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90699290T>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.782A>T	10.37:g.90699290T>A	ENSP00000402373:p.Glu261Val					ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V	p.E261V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	7	1256	-		Colorectal(252;0.0161)	261					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.782A>T	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990665	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.98135	-4.74;-4.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97028	0.9748	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	261	P62736	ACTA_HUMAN	V	261;261;216	ENSP00000224784:E261V;ENSP00000402373:E261V	ENSP00000224784:E261V	E	-	2	0	ACTA2	90689270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.330000	0.79161	0.533000	0.62120	GAG		0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		83	421	0	0	0	1	0	83	421					A	90699290	T	A	90699290	3	1	79	1	0	0	0	0	1	0	0	0	192	1551	54	5	363	5	ACTA2	10	90699290	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26144	90699290	44835457	11190	21507											
ACTA2	59	broad.mit.edu	37	chr10	90707143	90707143	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccattcccaccatcacccCctaaaaaggttcaacacatt	2	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	ACTA2_ENST00000224784.6_Splice_Site_p.G44W|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	44					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCACCCCCTAAAAAGGT	0.453																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.e3-1		actin, alpha 2, smooth muscle, aorta							210	182	192					10																	90707143		2203	4300	6503	SO:0001630	splice_region_variant	59				response to virus	cytosol	ATP binding	g.chr10:90707143C>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.130-1G>T	10.37:g.90707143C>A						STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Splice_Site_p.G44_splice|ACTA2_ENST00000480297.1_5'UTR	p.G44_splice	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	3	604	-		Colorectal(252;0.0161)	44					B2R8A4|P03996|P04108|Q6FI19	Splice_Site	SNP	ENST00000458208.1	37	c.129_splice	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671495	0.67814	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.57	5.57	0.84162	.	0.129922	0.50627	D	0.000114	D	0.97278	0.9110	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.984	D	0.98512	1.0619	10	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	44;44	B7Z6I1;P62736	.;ACTA_HUMAN	W	44	ENSP00000224784:G44W;ENSP00000402373:G44W;ENSP00000396730:G44W;ENSP00000398239:G44W	ENSP00000224784:G44W	G	-	1	0	ACTA2	90697123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGG		0.453	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	Missense_Mutation	12	515	1	0	1.5842e-08	1	1.65642e-08	12	515					A	90707143	C	A	90707143	5	1	79	1	0	0	0	0	0	0	1	0	192	637	22	3	1031	3	ACTA2	10	90707143	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7853	90707143	44827604	11191	21508											
LIPA	3988	broad.mit.edu	37	chr10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagaatgcagggtccagaGaaccaaacagaccaccaacc	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	14					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGGGTCCAGAGAACCAAACAG	0.378																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(40-42)Ctc>Atc		lipase A, lysosomal acid, cholesterol esterase							109	107	108					10																	91007366		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91007366G>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.40C>A	10.37:g.91007366G>T	ENSP00000337354:p.Leu14Ile					LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron	p.L14I			P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	2	362	-		Colorectal(252;0.0162)	14					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.40C>A	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802607	0.16397	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77098	-0.46;-0.46;-0.34;-1.07	4.93	3.04	0.35103	.	.	.	.	.	T	0.56093	0.1962	N	0.08118	0	0.20703	N	0.999861	B	0.11235	0.004	B	0.15484	0.013	T	0.41124	-0.9526	9	0.21540	T	0.41	-4.6998	8.0945	0.30820	0.0:0.1734:0.6466:0.18	.	14	P38571	LICH_HUMAN	I	14	ENSP00000337354:L14I;ENSP00000413019:L14I;ENSP00000388415:L14I;ENSP00000282673:L14I	ENSP00000282673:L14I	L	-	1	0	LIPA	90997346	0.932000	0.31603	0.980000	0.43619	0.314000	0.28054	1.957000	0.40392	0.777000	0.33496	0.555000	0.69702	CTC		0.378	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		34	182	1	0	2.51541e-25	1	2.88513e-25	34	182					T	91007366	G	T	91007366	3	4	79	1	0	0	0	0	1	0	0	0	8852	942	33	3	1195	3	LIPA	10	91007366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300223	91007366	44527381	11192	21509											
IFIT3	3437	broad.mit.edu	37	chr10	91098602	91098602	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcctacataaaacacctaGatggtaacaacgaggcagcc	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098602G>T	ENST00000371818.4	+	2	370	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	64					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AAAACACCTAGATGGTAACAA	0.418																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(190-192)Gat>Tat		interferon-induced protein with tetratricopeptide repeats 3							102	100	101					10																	91098602		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098602G>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.190G>T	10.37:g.91098602G>T	ENSP00000360883:p.Asp64Tyr					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y	p.D64Y	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	370	+			64					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.190G>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492880	0.12702	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	D;D	0.94046	-3.34;-3.34	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);	1.696370	0.02698	N	0.111449	D	0.92153	0.7512	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	D	0.90690	0.4612	10	0.72032	D	0.01	1.3031	10.1446	0.42755	0.4859:0.3721:0.142:0.0	.	64	O14879	IFIT3_HUMAN	Y	64	ENSP00000360883:D64Y;ENSP00000360876:D64Y	ENSP00000360876:D64Y	D	+	1	0	IFIT3	91088582	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.606000	0.05654	-3.526000	0.00147	-0.300000	0.09419	GAT		0.418	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		12	436	1	0	9.05144e-12	1	9.67624e-12	12	436					T	91098602	G	T	91098602	3	4	79	1	0	0	0	0	1	0	0	0	7554	942	33	3	205	3	IFIT3	10	91098602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91236	91098602	44436145	11193	21510											
IFIT3	3437	broad.mit.edu	37	chr10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaggtgaaacaaacctgcaAgaaattttcaaatccataca	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	125					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(373-375)aAg>aTg		interferon-induced protein with tetratricopeptide repeats 3							59	65	63					10																	91098786		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098786A>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.374A>T	10.37:g.91098786A>T	ENSP00000360883:p.Lys125Met					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M	p.K125M	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	554	+			125					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.374A>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379661	0.42207	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76316	-1.01;-1.01	4.71	2.32	0.28847	Tetratricopeptide-like helical (1);	0.814160	0.11368	N	0.571235	T	0.78792	0.4339	L	0.50333	1.59	0.31164	N	0.703982	P	0.41848	0.763	P	0.51974	0.686	T	0.74691	-0.3580	10	0.59425	D	0.04	-0.1749	6.3659	0.21455	0.7797:0.0:0.0794:0.1409	.	125	O14879	IFIT3_HUMAN	M	125	ENSP00000360883:K125M;ENSP00000360876:K125M	ENSP00000360876:K125M	K	+	2	0	IFIT3	91088766	0.864000	0.29904	0.540000	0.28089	0.336000	0.28762	1.583000	0.36579	0.509000	0.28195	0.528000	0.53228	AAG		0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		74	300	0	0	0	1	0	74	300					T	91098786	A	T	91098786	3	4	79	1	0	0	0	0	1	0	0	0	7554	72	3	5	389	5	IFIT3	10	91098786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	91098786	44435961	11194	21511											
IFIT1	3434	broad.mit.edu	37	chr10	91162578	91162578	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatccagcgctgggtatgcGatctctgcctatcgcctgga	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000371804.3	+	2	713	c.546G>A	c.(544-546)gcG>gcA	p.A182A	IFIT1_ENST00000546318.1_Silent_p.A151A|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gcG>gcA		interferon-induced protein with tetratricopeptide repeats 1							131	134	133					10																	91162578		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162578G>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.546G>A	10.37:g.91162578G>A						IFIT1_ENST00000371804.3_Silent_p.A182A|LIPA_ENST00000371837.1_Intron	p.A151A	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1740	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.453G>A	CCDS31243.1																																																																																				0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		202	878	0	0	0	1	0	202	878					A	91162578	G	A	91162578	2	1	79	1	0	0	0	0	0	0	0	1	7551	1045	37	1		1	IFIT1	10	91162578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63792	91162578	44372169	11195	21512											
IFIT1	3434	broad.mit.edu	37	chr10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgcaggaaacacccacttCtgtcttactgcatcaccaga	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000371804.3	+	2	1018	c.851C>T	c.(850-852)tCt>tTt	p.S284F	IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	284					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(757-759)tCt>tTt		interferon-induced protein with tetratricopeptide repeats 1							71	73	72					10																	91162883		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162883C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.851C>T	10.37:g.91162883C>T	ENSP00000360869:p.Ser284Phe					IFIT1_ENST00000371804.3_Missense_Mutation_p.S284F|LIPA_ENST00000371837.1_Intron	p.S253F	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	2045	+			284					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.758C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294559	0.60086	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.212698	0.40144	N	0.001177	D	0.87095	0.6092	M	0.89095	3.005	0.45899	D	0.998747	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83615	0.0136	10	0.07482	T	0.82	.	19.01	0.92870	0.0:1.0:0.0:0.0	.	284;284	Q5T7J1;P09914	.;IFIT1_HUMAN	F	284;253	ENSP00000360869:S284F;ENSP00000441968:S253F	ENSP00000360869:S284F	S	+	2	0	IFIT1	91152863	0.915000	0.31059	0.095000	0.20976	0.446000	0.32137	3.195000	0.51013	2.791000	0.96007	0.650000	0.86243	TCT		0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		84	424	0	0	0	1	0	84	424					T	91162883	C	T	91162883	3	4	79	1	0	0	0	0	1	0	0	0	7551	913	32	2	857	2	IFIT1	10	91162883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	91162883	44371864	11196	21513											
IFIT5	24138	broad.mit.edu	37	chr10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtctgtaaagagcttttctCtggggcctttgagaaaggct	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	201					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(601-603)Ctg>Gtg		interferon-induced protein with tetratricopeptide repeats 5							70	76	74					10																	91177557		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91177557C>G	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.601C>G	10.37:g.91177557C>G	ENSP00000360860:p.Leu201Val					IFIT5_ENST00000416601.1_Intron	p.L201V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	814	+			201					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.601C>G	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835418	0.50951	.	.	ENSG00000152778	ENST00000371795	T	0.48836	0.8	6.03	4.14	0.48551	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.274754	0.36101	N	0.002795	T	0.37571	0.1008	L	0.37507	1.11	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.07539	-1.0767	10	0.31617	T	0.26	-4.439	8.7594	0.34665	0.0:0.7657:0.0:0.2343	.	201	Q13325	IFIT5_HUMAN	V	201	ENSP00000360860:L201V	ENSP00000360860:L201V	L	+	1	2	IFIT5	91167537	0.002000	0.14202	0.985000	0.45067	0.992000	0.81027	-0.242000	0.08928	0.832000	0.34804	0.655000	0.94253	CTG		0.448	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		82	334	0	0	0	1	0	82	334					G	91177557	C	G	91177557	3	3	79	1	0	0	0	0	1	0	0	0	7555	912	32	5	607	5	IFIT5	10	91177557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14674	91177557	44357190	11197	21514											
SLC16A12	387700	broad.mit.edu	37	chr10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcaccatcaaagtagccAaaggtacaagagaaaggcac	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000341233.4	-	7	1449	c.1059T>G	c.(1057-1059)ttT>ttG	p.F353L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(1057-1059)ttT>ttG		solute carrier family 16, member 12							126	99	108					10																	91195956		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91195956A>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1059T>G	10.37:g.91195956A>C	ENSP00000343022:p.Phe353Leu					SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	p.F353L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			7	1449	-			353					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.1059T>G		.	.	.	.	.	.	.	.	.	.	A	22.2	4.252196	0.80135	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.11495	2.77;2.77	5.91	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057555	0.64402	D	0.000001	T	0.12987	0.0315	L	0.55017	1.72	0.48395	D	0.999646	P	0.44090	0.826	B	0.42462	0.388	T	0.06110	-1.0845	10	0.28530	T	0.3	.	11.1741	0.48588	0.9288:0.0:0.0712:0.0	.	353	Q6ZSM3	MOT12_HUMAN	L	353;383	ENSP00000343022:F353L;ENSP00000360855:F383L	ENSP00000343022:F353L	F	-	3	2	SLC16A12	91185936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.235000	0.51328	1.062000	0.40625	0.533000	0.62120	TTT		0.502	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		50	188	0	0	0	1	0	50	188					C	91195956	A	C	91195956	3	2	79	1	0	0	0	0	1	0	0	0	14455	127	5	4	409	4	SLC16A12	10	91195956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18399	91195956	44338791	11198	21515											
SLC16A12	387700	broad.mit.edu	37	chr10	91203589	91203589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgagtgaagtatgtctgGaactccacaaaaaaaattga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000341233.4	-	4	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SLC16A12_ENST00000371790.4_Silent_p.F76F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(136-138)ttC>ttT		solute carrier family 16, member 12							98	89	92					10																	91203589		2203	4300	6503	SO:0001819	synonymous_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91203589G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.138C>T	10.37:g.91203589G>A						SLC16A12_ENST00000371790.4_Silent_p.F76F	p.F46F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			4	528	-			46					Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	37	c.138C>T																																																																																					0.368	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		31	154	0	0	0	1	0	31	154					A	91203589	G	A	91203589	2	1	79	1	0	0	0	0	0	0	0	1	14455	1165	41	2		2	SLC16A12	10	91203589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7633	91203589	44331158	11199	21516											
KIF20B	9585	broad.mit.edu	37	chr10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagggcagatggcacagAaattcagtttttccaaggta	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000371728.3	+	4	399	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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						GATGGCACAGAAATTCAGTTT	0.373																																						ENST00000416354.1																			0				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						c.(334-336)Aaa>Caa		kinesin family member 20B							86	85	86					10																	91469201		2203	4300	6503	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.chr10:91469201A>C	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.334A>C	10.37:g.91469201A>C	ENSP00000360793:p.Lys112Gln					KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	p.K112Q			Q96Q89	KI20B_HUMAN			4	406	+			112			Kinesin-motor.		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.334A>C		.	.	.	.	.	.	.	.	.	.	A	21.0	4.077178	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000097	T	0.73125	0.3547	N	0.20766	0.605	0.35744	D	0.818899	P;B	0.42941	0.794;0.03	P;B	0.54372	0.75;0.049	T	0.78295	-0.2259	10	0.35671	T	0.21	-16.5905	15.4672	0.75409	1.0:0.0:0.0:0.0	.	112;112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	112	ENSP00000260753:K112Q;ENSP00000411545:K112Q;ENSP00000377830:K112Q;ENSP00000360793:K112Q;ENSP00000390946:K112Q	ENSP00000260753:K112Q	K	+	1	0	KIF20B	91459181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.104000	0.64026	0.533000	0.62120	AAA		0.373	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		117	502	0	0	0	1	0	117	502					C	91469201	A	C	91469201	3	2	79	1	0	0	0	0	1	0	0	0	8317	247	9	4	344	4	KIF20B	10	91469201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265612	91469201	44065546	11200	21517											
KIF20B	9585	broad.mit.edu	37	chr10	91477381	91477381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacgaactatgaagacacaGaatgaaggtgaaaggttaag	12	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000371728.3	+	11	1238	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000260753.4_Silent_p.Q391Q|KIF20B_ENST00000416354.1_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	391	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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						TGAAGACACAGAATGAAGGTG	0.313																																						ENST00000416354.1																			0				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						c.(1171-1173)caG>caA		kinesin family member 20B							124	134	131					10																	91477381		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:91477381G>A	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.1173G>A	10.37:g.91477381G>A						KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000371728.3_Silent_p.Q391Q|KIF20B_ENST00000260753.4_Silent_p.Q391Q	p.Q391Q			Q96Q89	KI20B_HUMAN			11	1245	+			391			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1173G>A																																																																																					0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		101	396	0	0	0	1	0	101	396					A	91477381	G	A	91477381	2	1	79	1	0	0	0	0	0	0	0	1	8317	933	33	2		2	KIF20B	10	91477381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8180	91477381	44057366	11201	21518											
KIF20B	9585	broad.mit.edu	37	chr10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgcaagaaaaaaatgttaCtcttgatgttcaaatacagc	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000371728.3	+	20	3466	c.3401C>A	c.(3400-3402)aCt>aAt	p.T1134N	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1134					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)			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						AAAAATGTTACTCTTGATGTT	0.343																																						ENST00000416354.1																			0				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						c.(3490-3492)aCt>aAt		kinesin family member 20B							67	76	73					10																	91497999		2202	4297	6499	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.chr10:91497999C>A	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.3401C>A	10.37:g.91497999C>A	ENSP00000360793:p.Thr1134Asn					KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000371728.3_Missense_Mutation_p.T1134N|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000478929.1_3'UTR	p.T1164N			Q96Q89	KI20B_HUMAN			20	3563	+			1134					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.3491C>A		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417123	0.01136	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65916	-0.12;-0.13;-0.18;-0.12	5.87	-1.76	0.08006	.	1.060770	0.07276	N	0.869932	T	0.22437	0.0541	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.16420	T	0.52	0.8938	1.5837	0.02639	0.3529:0.2265:0.3063:0.1143	.	1134;1094	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1094;1164;1134;1134	ENSP00000260753:T1094N;ENSP00000411545:T1164N;ENSP00000377830:T1134N;ENSP00000360793:T1134N	ENSP00000260753:T1094N	T	+	2	0	KIF20B	91487979	0.001000	0.12720	0.009000	0.14445	0.003000	0.03518	-0.241000	0.08940	-0.370000	0.08016	-0.940000	0.02684	ACT		0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		48	427	1	0	6.27289e-28	1	7.28045e-28	48	427					A	91497999	C	A	91497999	3	1	79	1	0	0	0	0	1	0	0	0	8317	565	20	3	3355	3	KIF20B	10	91497999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20618	91497999	44036748	11202	21519											
KIF20B	9585	broad.mit.edu	37	chr10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaagcagatcttcagaGgaaggaagaagattatgctg	12	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000371728.3	+	21	3904	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1280					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)			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						GATCTTCAGAGGAAGGAAGAA	0.383																																						ENST00000416354.1																			0				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						c.(3928-3930)aGg>aTg		kinesin family member 20B							99	101	100					10																	91498777		2202	4300	6502	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.chr10:91498777G>T	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.3839G>T	10.37:g.91498777G>T	ENSP00000360793:p.Arg1280Met					KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000371728.3_Missense_Mutation_p.R1280M|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000478929.1_3'UTR	p.R1310M			Q96Q89	KI20B_HUMAN			21	4001	+			1280					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.3929G>T		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574020	0.65765	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80123	-1.23;-1.26;-1.34;-1.27	5.23	2.29	0.28610	.	0.213968	0.32055	N	0.006641	D	0.86285	0.5896	M	0.65498	2.005	0.41534	D	0.988475	D;D	0.89917	0.999;1.0	D;D	0.68943	0.915;0.961	D	0.85586	0.1243	10	0.72032	D	0.01	-4.1044	11.1185	0.48275	0.2074:0.0:0.7926:0.0	.	1280;1240	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1240;1310;1280;1280	ENSP00000260753:R1240M;ENSP00000411545:R1310M;ENSP00000377830:R1280M;ENSP00000360793:R1280M	ENSP00000260753:R1240M	R	+	2	0	KIF20B	91488757	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.769000	0.55303	0.275000	0.22094	0.591000	0.81541	AGG		0.383	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		51	224	1	0	1.19451e-25	1	1.37202e-25	51	224					T	91498777	G	T	91498777	3	4	79	1	0	0	0	0	1	0	0	0	8317	1000	35	3	3797	3	KIF20B	10	91498777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	778	91498777	44035970	11203	21520											
HTR7	3363	broad.mit.edu	37	chr10	92508676	92508676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagcttccggttgatAttccggtactggcactggag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000336152.3	-	2	1241	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371721.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	405					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1213-1215)aaT>aaC		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						129	135	133					10																	92508676		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508676A>G	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1215T>C	10.37:g.92508676A>G						HTR7_ENST00000336152.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N|HTR7_ENST00000277874.6_Silent_p.N405N	p.N405N			P34969	5HT7R_HUMAN			2	1457	-			405					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.1215T>C	CCDS7408.1																																																																																				0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		100	855	0	0	0	1	0	100	855					G	92508676	A	G	92508676	2	3	79	1	0	0	0	0	0	0	0	1	7482	446	16	4		4	HTR7	10	92508676	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1009899	92508676	43026071	11204	21521											
HTR7	3363	broad.mit.edu	37	chr10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accttatcatcatttacattCtgagcccatccaaagagtgg	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000336152.3	-	2	695	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	223					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(667-669)caG>caT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						99	104	102					10																	92509222		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509222C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.669G>T	10.37:g.92509222C>A	ENSP00000337949:p.Gln223His					HTR7_ENST00000336152.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H|HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H	p.Q223H			P34969	5HT7R_HUMAN			2	911	-			223					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.669G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928757	0.34002	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.056782	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.31209	0.313;0.044	B;B	0.26614	0.071;0.064	T	0.04650	-1.0936	10	0.45353	T	0.12	.	12.026	0.53371	0.0:0.878:0.0:0.122	.	223;223	P34969;P34969-2	5HT7R_HUMAN;.	H	223	ENSP00000337949:Q223H;ENSP00000277874:Q223H;ENSP00000360784:Q223H;ENSP00000360786:Q223H	ENSP00000277874:Q223H	Q	-	3	2	HTR7	92499202	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.716000	0.61916	2.756000	0.94617	0.650000	0.86243	CAG		0.483	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		95	352	1	0	1.76565e-42	1	2.15003e-42	95	352					A	92509222	C	A	92509222	3	1	79	1	0	0	0	0	1	0	0	0	7482	912	32	3	786	3	HTR7	10	92509222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546	92509222	43025525	11205	21522											
RPP30	10556	broad.mit.edu	37	chr10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttagaaataagagggCcatatgacgtggcaaatctg	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000371703.3	+	9	869	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000413330.1_Missense_Mutation_p.P200S	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	200					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(598-600)Cca>Tca		ribonuclease P/MRP 30kDa subunit							78	83	82					10																	92655655		2203	4295	6498	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92655655C>T	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.598C>T	10.37:g.92655655C>T	ENSP00000360768:p.Pro200Ser					RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.P200S	p.P200S	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			9	633	+			200					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.598C>T	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387205	0.82902	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.57436	0.4;0.42;0.53	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.77245	-0.2659	10	0.66056	D	0.02	-19.3429	18.8041	0.92029	0.0:1.0:0.0:0.0	.	200;200	P78346;E9PB02	RPP30_HUMAN;.	S	200;200;190;222;144	ENSP00000360768:P200S;ENSP00000389182:P200S;ENSP00000277882:P222S	ENSP00000277882:P222S	P	+	1	0	RPP30	92645635	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.882000	0.69714	2.732000	0.93576	0.557000	0.71058	CCA		0.279	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		32	277	0	0	0	1	0	32	277					T	92655655	C	T	92655655	3	4	79	1	0	0	0	0	1	0	0	0	13662	739	26	2	632	2	RPP30	10	92655655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146433	92655655	42879092	11206	21523											
RPP30	10556	broad.mit.edu	37	chr10	92663014	92663014	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatactcccaagaacaggCtttgacccttctttaaaagg	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92663014C>A	ENST00000371703.3	+	0	2589				RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000413330.1_Missense_Mutation_p.L322I	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						caagaacaggctttgaccctt	0.353																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(964-966)Ctt>Att		ribonuclease P/MRP 30kDa subunit							76	74	74					10																	92663014		1832	4081	5913	SO:0001628	intergenic_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92663014C>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733		10.37:g.92663014C>A						RPP30_ENST00000489806.1_3'UTR	p.L322I	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			13	999	+			0					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.964C>A	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	7.167	0.586885	0.13749	.	.	ENSG00000148688	ENST00000413330	T	0.48522	0.81	1.78	0.851	0.18989	.	.	.	.	.	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.16289	0.015	T	0.19353	-1.0308	9	0.87932	D	0	.	4.3377	0.11094	0.0:0.7913:0.0:0.2087	.	322	E9PB02	.	I	322	ENSP00000389182:L322I	ENSP00000389182:L322I	L	+	1	0	RPP30	92652994	0.207000	0.23482	0.010000	0.14722	0.137000	0.21094	0.436000	0.21526	0.318000	0.23185	0.563000	0.77884	CTT		0.353	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		23	127	1	0	1.42536e-11	1	1.52187e-11	23	127					A	92663014	C	A	92663014	1	1	79	0	1	0	0	0	0	0	0	0	13662	797	28	3		3	RPP30	10	92663014	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7359	92663014	42871733	11207	21524											
ANKRD1	27063	broad.mit.edu	37	chr10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaagaaggaataccttatCtcgggcgctaatttttgctc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522																																						ENST00000371697.3																			1	Substitution - Missense(1)	p.D216Y(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(646-648)Gat>Aat		ankyrin repeat domain 1 (cardiac muscle)							82	79	80					10																	92675933		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675933C>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>A	10.37:g.92675933C>T	ENSP00000360762:p.Asp216Asn						p.D216N	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			6	894	-		Colorectal(252;0.0475)	216					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.646G>A	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT		0.522	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		40	179	0	0	0	1	0	40	179					T	92675933	C	T	92675933	3	4	79	1	0	0	0	0	1	0	0	0	637	913	32	2	329	2	ANKRD1	10	92675933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12919	92675933	42858814	11208	21525											
PCGF5	84333	broad.mit.edu	37	chr10	93011074	93011074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaaaagctgacaaaccGaaagtagatgaagaaggtga	10	6	1	5	rs570347532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15980	0.0		0.0	False		,,,				2504	0.0				Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(349-351)ccG>ccA		polycomb group ring finger 5							90	86	87					10																	93011074		2202	4300	6502	SO:0001819	synonymous_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011074G>A	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.351G>A	10.37:g.93011074G>A						PCGF5_ENST00000543648.1_Silent_p.P117P	p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			6	583	+			117					B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	37	c.351G>A	CCDS7413.1																																																																																				0.299	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		31	168	0	0	0	1	0	31	168					A	93011074	G	A	93011074	2	1	79	1	0	0	0	0	0	0	0	1	11619	1045	37	1		1	PCGF5	10	93011074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335141	93011074	42523673	11209	21526											
PCGF5	84333	broad.mit.edu	37	chr10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtttacgaaataatgggCaatcaggggacaatgtagta	11	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(451-453)Caa>Taa		polycomb group ring finger 5							131	124	126					10																	93011174		2203	4299	6502	SO:0001587	stop_gained	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011174C>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.451C>T	10.37:g.93011174C>T	ENSP00000337500:p.Gln151*					PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			6	683	+			151					B7Z892|D3DR33|Q6PK47|Q86TD0	Nonsense_Mutation	SNP	ENST00000336126.5	37	c.451C>T	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802879	0.98498	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.06	6.06	0.98353	.	0.112587	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-17.7437	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000337500:Q151X	Q	+	1	0	PCGF5	93001154	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CAA		0.323	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		66	326	0	0	0	1	0	66	326					T	93011174	C	T	93011174	4	4	79	1	0	0	0	0	0	1	0	0	11619	711	25	2	469	2	PCGF5	10	93011174	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	93011174	42523573	11210	21527											
HECTD2	143279	broad.mit.edu	37	chr10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaatttatttctttacGcctgtttcctgcaaagcctg	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000298068.5	+	9	975	c.881G>A	c.(880-882)cGc>cAc	p.R294H	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(892-894)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 2							98	99	99					10																	93244323		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244323G>A	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.881G>A	10.37:g.93244323G>A	ENSP00000298068:p.Arg294His					HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.R294H|HECTD2_ENST00000498446.1_3'UTR	p.R298H			Q5U5R9	HECD2_HUMAN			10	993	+			294					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.893G>A	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776438	0.70107	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39229	1.12;1.09	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63957	0.794;0.92	T	0.71471	-0.4583	10	0.36615	T	0.2	.	17.2064	0.86920	0.0:0.1261:0.8739:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	298;20;294	ENSP00000401023:R298H;ENSP00000298068:R294H	ENSP00000298068:R294H	R	+	2	0	HECTD2	93234303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.069000	0.93967	1.508000	0.48769	-0.274000	0.10170	CGC		0.368	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			47	339	0	0	0	1	0	47	339					A	93244323	G	A	93244323	3	1	79	1	0	0	0	0	1	0	0	0	7070	1087	38	1	939	1	HECTD2	10	93244323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233149	93244323	42290424	11211	21528											
HECTD2	143279	broad.mit.edu	37	chr10	93256087	93256087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaaatataccagtaggCatctgcaatgttaccgtgga	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000298068.5	+	15	1732	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000446394.1_Silent_p.G550G|HECTD2_ENST00000536715.1_Silent_p.G135G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	546	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACCAGTAGGCATCTGCAATG	0.363																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(1648-1650)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 2							158	133	142					10																	93256087		2203	4300	6503	SO:0001819	synonymous_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93256087C>T	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.1638C>T	10.37:g.93256087C>T						HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000298068.5_Silent_p.G546G	p.G550G			Q5U5R9	HECD2_HUMAN			16	1750	+			546			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	c.1650C>T	CCDS7414.1																																																																																				0.363	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			33	262	0	0	0	1	0	33	262					T	93256087	C	T	93256087	2	4	79	1	0	0	0	0	0	0	0	1	7070	697	25	2		2	HECTD2	10	93256087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11764	93256087	42278660	11212	21529											
TNKS2	80351	broad.mit.edu	37	chr10	93608274	93608274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttcaggtccatctagCccatcaagcctttctgcagc	6	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608274C>A	ENST00000371627.4	+	19	2872	c.2493C>A	c.(2491-2493)agC>agA	p.S831R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	831					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GTCCATCTAGCCCATCAAGCC	0.507																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(2491-2493)agC>agA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							116	107	110					10																	93608274		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93608274C>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2493C>A	10.37:g.93608274C>A	ENSP00000360689:p.Ser831Arg						p.S831R	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			19	2872	+		Colorectal(252;0.162)	831					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2493C>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479147	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.65549	-0.16	5.79	2.56	0.30785	.	0.000000	0.64402	D	0.000001	T	0.50240	0.1604	L	0.44542	1.39	0.44677	D	0.997668	B	0.33413	0.411	B	0.32465	0.146	T	0.50030	-0.8875	10	0.72032	D	0.01	.	8.1326	0.31035	0.0:0.5625:0.0:0.4375	.	831	Q9H2K2	TNKS2_HUMAN	R	831	ENSP00000360689:S831R	ENSP00000360689:S831R	S	+	3	2	TNKS2	93598254	0.937000	0.31787	1.000000	0.80357	0.986000	0.74619	0.049000	0.14099	0.586000	0.29626	0.591000	0.81541	AGC		0.507	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		9	474	1	0	3.09899e-07	1	3.21319e-07	9	474					A	93608274	C	A	93608274	3	1	79	1	0	0	0	0	1	0	0	0	16373	738	26	3	2567	3	TNKS2	10	93608274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352187	93608274	41926473	11213	21530											
TNKS2	80351	broad.mit.edu	37	chr10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagcctttctgcagccaGcagtcttgacaacttatctg	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	839					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCAGCCAGCAGTCTTGAC	0.488																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(2515-2517)aGc>aAc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							109	101	104					10																	93608297		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93608297G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2516G>A	10.37:g.93608297G>A	ENSP00000360689:p.Ser839Asn						p.S839N	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			19	2895	+		Colorectal(252;0.162)	839					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2516G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052890	0.75960	.	.	ENSG00000107854	ENST00000371627	T	0.64991	-0.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.53249	1.67	0.45914	D	0.998755	P	0.45348	0.856	B	0.38562	0.276	T	0.55915	-0.8065	10	0.16420	T	0.52	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	839	Q9H2K2	TNKS2_HUMAN	N	839	ENSP00000360689:S839N	ENSP00000360689:S839N	S	+	2	0	TNKS2	93598277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.742000	0.94016	0.591000	0.81541	AGC		0.488	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		77	409	0	0	0	1	0	77	409					A	93608297	G	A	93608297	3	1	79	1	0	0	0	0	1	0	0	0	16373	971	34	2	2590	2	TNKS2	10	93608297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	93608297	41926450	11214	21531											
BTAF1	9044	broad.mit.edu	37	chr10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttatttcaggctagatcGcctttttattttactggata	7	6	1	1	rs200229615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R8H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378																																						ENST00000265990.6																			1	Substitution - Missense(1)	p.R8H(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(22-24)cGc>cAc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							160	138	146					10																	93695422		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93695422G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.23G>A	10.37:g.93695422G>A	ENSP00000265990:p.Arg8His						p.R8H	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			2	331	+		Colorectal(252;0.0846)	8					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.23G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	BTAF1	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		62	201	0	0	0	1	0	62	201					A	93695422	G	A	93695422	3	1	79	1	0	0	0	0	1	0	0	0	1540	1087	38	1	29	1	BTAF1	10	93695422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87125	93695422	41839325	11215	21532											
BTAF1	9044	broad.mit.edu	37	chr10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagcaattggaatgaGtactgaagaacttttcaatg	12	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	164					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTGGAATGAGTACTGAAGAA	0.373																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(490-492)aGt>aAt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							119	117	118					10																	93711250		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93711250G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.491G>A	10.37:g.93711250G>A	ENSP00000265990:p.Ser164Asn						p.S164N	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			5	799	+		Colorectal(252;0.0846)	164					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.491G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346355	0.11126	.	.	ENSG00000095564	ENST00000265990	D	0.89746	-2.56	5.13	3.98	0.46160	Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	T	0.67373	0.2886	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64424	-0.6411	10	0.02654	T	1	0.5674	6.7274	0.23365	0.2115:0.0:0.7885:0.0	.	164	O14981	BTAF1_HUMAN	N	164	ENSP00000265990:S164N	ENSP00000265990:S164N	S	+	2	0	BTAF1	93701230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.401000	0.59716	2.563000	0.86464	0.591000	0.81541	AGT		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		59	493	0	0	0	1	0	59	493					A	93711250	G	A	93711250	3	1	79	1	0	0	0	0	1	0	0	0	1540	1029	36	2	509	2	BTAF1	10	93711250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	93711250	41823497	11216	21533											
BTAF1	9044	broad.mit.edu	37	chr10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgactcagagtttcgagcaGgaatgagcaatagacaaaag	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	203					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTCGAGCAGGAATGAGCAA	0.363																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(607-609)Gga>Tga		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							133	138	136					10																	93713536		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93713536G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.607G>T	10.37:g.93713536G>T	ENSP00000265990:p.Gly203*						p.G203*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			6	915	+		Colorectal(252;0.0846)	203					B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.607G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	40	8.164873	0.98686	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-20.5445	19.7205	0.96142	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000265990:G203X	G	+	1	0	BTAF1	93703516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.723000	0.93209	0.585000	0.79938	GGA		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		141	511	1	0	3.30668e-82	1	4.23156e-82	141	511					T	93713536	G	T	93713536	4	4	79	1	0	0	0	0	0	1	0	0	1540	1001	35	3	629	3	BTAF1	10	93713536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2286	93713536	41821211	11217	21534											
BTAF1	9044	broad.mit.edu	37	chr10	93768637	93768637	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtataaacttcatggaattCtgtgtgatgacatgggttta	10	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCATGGAATTCTGTGTGATGA	0.299																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3865-3867)Ctg>Ttg		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							80	83	82					10																	93768637		2202	4299	6501	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768637C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3865C>T	10.37:g.93768637C>T						BTAF1_ENST00000544642.1_Silent_p.L117L	p.L1289L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			27	4173	+		Colorectal(252;0.0846)	1289			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3865C>T	CCDS7419.1																																																																																				0.299	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		56	228	0	0	0	1	0	56	228					T	93768637	C	T	93768637	2	4	79	1	0	0	0	0	0	0	0	1	1540	912	32	2		2	BTAF1	10	93768637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55101	93768637	41766110	11218	21535											
CPEB3	22849	broad.mit.edu	37	chr10	93999697	93999697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgacatggtgcgggaagttCtggaagagcatggtcccgtt	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	ENST00000265997.4	-	2	583	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_ENST00000412050.4_Missense_Mutation_p.Q137H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	137	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGAAGTTCTGGAAGAGCA	0.662																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(409-411)caG>caT		cytoplasmic polyadenylation element binding protein 3							54	47	49					10																	93999697		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999697C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.411G>T	10.37:g.93999697C>A	ENSP00000265997:p.Gln137His					CPEB3_ENST00000265997.4_Missense_Mutation_p.Q137H	p.Q137H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	499	-		Colorectal(252;0.0869)	137			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.411G>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711382	0.30322	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.51817	0.7;0.69	3.68	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.75484	0.969;0.969;0.986	T	0.55192	-0.8179	10	0.72032	D	0.01	-5.7008	10.0365	0.42131	0.0:0.8987:0.0:0.1013	.	137;137;137	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	137	ENSP00000398310:Q137H;ENSP00000265997:Q137H	ENSP00000265997:Q137H	Q	-	3	2	CPEB3	93989677	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.637000	0.61346	0.741000	0.32674	0.313000	0.20887	CAG		0.662	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		10	110	1	0	0.000978159	1	0.000988919	10	110					A	93999697	C	A	93999697	3	1	79	1	0	0	0	0	1	0	0	0	3811	912	32	3	1748	3	CPEB3	10	93999697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231060	93999697	41535050	11219	21536											
KIF11	3832	broad.mit.edu	37	chr10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacattggccgttctggagCtgttgataagagagctcggg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	277	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(829-831)gCt>gTt		kinesin family member 11							72	71	72					10																	94373174		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94373174C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.830C>T	10.37:g.94373174C>T	ENSP00000260731:p.Ala277Val						p.A277V	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			8	920	+			277			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.830C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395280	0.96009	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	5.82	5.82	0.92795	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	277	P52732	KIF11_HUMAN	V	277	ENSP00000260731:A277V	ENSP00000260731:A277V	A	+	2	0	KIF11	94363154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.745000	0.94114	0.655000	0.94253	GCT		0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		34	154	0	0	0	1	0	34	154					T	94373174	C	T	94373174	3	4	79	1	0	0	0	0	1	0	0	0	8302	797	28	2	860	2	KIF11	10	94373174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373477	94373174	41161573	11220	21537											
KIF11	3832	broad.mit.edu	37	chr10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtttaaaacgagatcttgCtgcagcccgtgagaaaaatg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	390					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1168-1170)gCt>gAt		kinesin family member 11							138	136	137					10																	94381182		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94381182C>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1169C>A	10.37:g.94381182C>A	ENSP00000260731:p.Ala390Asp						p.A390D	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			10	1259	+			390					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1169C>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147649	0.77888	.	.	ENSG00000138160	ENST00000260731	T	0.73897	-0.79	5.0	5.0	0.66597	.	0.125717	0.52532	D	0.000064	T	0.81288	0.4791	L	0.60455	1.87	0.54753	D	0.999985	D	0.76494	0.999	D	0.68621	0.959	T	0.78250	-0.2277	10	0.25751	T	0.34	.	12.7613	0.57365	0.0:0.9203:0.0:0.0797	.	390	P52732	KIF11_HUMAN	D	390	ENSP00000260731:A390D	ENSP00000260731:A390D	A	+	2	0	KIF11	94371162	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.545000	0.67237	2.320000	0.78422	0.485000	0.47835	GCT		0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		29	383	1	0	8.16721e-17	1	8.9905e-17	29	383					A	94381182	C	A	94381182	3	1	79	1	0	0	0	0	1	0	0	0	8302	797	28	3	1207	3	KIF11	10	94381182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8008	94381182	41153565	11221	21538											
HHEX	3087	broad.mit.edu	37	chr10	94452255	94452255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagaaatatctctctccGcccgagaggaagcgtctggc	11	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000282728.5	+	2	2291	c.492G>A	c.(490-492)ccG>ccA	p.P164P	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	164					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(490-492)ccG>ccA		hematopoietically expressed homeobox							37	40	39					10																	94452255		2203	4300	6503	SO:0001819	synonymous_variant	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452255G>A	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.492G>A	10.37:g.94452255G>A						HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.P164P	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			2	2291	+			164					B1AQ17|Q96CE9	Silent	SNP	ENST00000282728.5	37	c.492G>A	CCDS7423.1																																																																																				0.607	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			54	255	0	0	0	1	0	54	255					A	94452255	G	A	94452255	2	1	79	1	0	0	0	0	0	0	0	1	7121	1074	38	1		1	HHEX	10	94452255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71073	94452255	41082492	11222	21539											
CYP26A1	1592	broad.mit.edu	37	chr10	94834670	94834670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaccccgaggtgaagcgCctcatgttccgaatcgccat	10	14	2	1	rs199767327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000224356.4	+	3	594	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000371531.1_Silent_p.R114R	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	183					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	AGGTGAAGCGCCTCATGTTCC	0.652																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(340-342)cgC>cgT		cytochrome P450, family 26, subfamily A, polypeptide 1							45	49	47					10																	94834670		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834670C>T	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.549C>T	10.37:g.94834670C>T						CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000224356.4_Silent_p.R183R	p.R114R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			3	720	+		Colorectal(252;0.122)	183					B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	ENST00000224356.4	37	c.342C>T	CCDS7426.1																																																																																				0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			92	413	0	0	0	1	0	92	413					T	94834670	C	T	94834670	2	4	79	1	0	0	0	0	0	0	0	1	4166	726	26	2		2	CYP26A1	10	94834670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382415	94834670	40700077	11223	21540											
CYP26A1	1592	broad.mit.edu	37	chr10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttggaacaacttaaatAcatcgggtgtgttattaagg	9	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000224356.4	+	6	1109	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000371531.1_Missense_Mutation_p.Y286C	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	355					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CAACTTAAATACATCGGGTGT	0.383																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(856-858)tAc>tGc		cytochrome P450, family 26, subfamily A, polypeptide 1							111	112	112					10																	94836365		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836365A>G	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1064A>G	10.37:g.94836365A>G	ENSP00000224356:p.Tyr355Cys					CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000224356.4_Missense_Mutation_p.Y355C	p.Y286C	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			6	1235	+		Colorectal(252;0.122)	355					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.857A>G	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535437	0.64972	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92221	0.5784	10	0.87932	D	0	-17.7244	15.3318	0.74219	1.0:0.0:0.0:0.0	.	286;355	B3KNI4;O43174	.;CP26A_HUMAN	C	286;355;286	ENSP00000360586:Y286C;ENSP00000224356:Y355C;ENSP00000377695:Y286C	ENSP00000224356:Y355C	Y	+	2	0	CYP26A1	94826355	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	8.578000	0.90777	2.214000	0.71695	0.528000	0.53228	TAC		0.383	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			73	367	0	0	0	1	0	73	367					G	94836365	A	G	94836365	3	3	79	1	0	0	0	0	1	0	0	0	4166	391	14	4	1086	4	CYP26A1	10	94836365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1695	94836365	40698382	11224	21541											
MYOF	26509	broad.mit.edu	37	chr10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcactcatttcctctcCtgtgatgcttttctcgtcca	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000359263.4	-	48	5424	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1809					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)			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						ATTTCCTCTCCTGTGATGCTT	0.443																																						ENST00000371501.4																			0				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						c.(5425-5427)Gga>Aga		myoferlin							300	282	288					10																	95082866		1969	4162	6131	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.chr10:95082866C>T	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.5425G>A	10.37:g.95082866C>T	ENSP00000352208:p.Gly1809Arg					MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1809R	p.G1809R			Q9NZM1	MYOF_HUMAN			48	5547	-			1809					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.5425G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346743	0.95807	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-1.89	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047975	0.85682	N	0.000000	D	0.94466	0.8219	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94138	0.7394	10	0.51188	T	0.08	-18.5395	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1796;1809	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1796;1809;1809;1799	ENSP00000351094:G1796R;ENSP00000352208:G1809R;ENSP00000360556:G1809R;ENSP00000360557:G1799R	ENSP00000351094:G1796R	G	-	1	0	MYOF	95072856	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.651000	0.83577	2.797000	0.96272	0.563000	0.77884	GGA		0.443	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		126	765	0	0	0	1	0	126	765					T	95082866	C	T	95082866	3	4	79	1	0	0	0	0	1	0	0	0	10130	690	24	2	788	2	MYOF	10	95082866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246501	95082866	40451881	11225	21542											
RBP4	5950	broad.mit.edu	37	chr10	95353719	95353719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcagcacaggtgccatcGaggttcaggaggcggcagga	16	10	2	0	rs374650128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L|RBP4_ENST00000371469.2_Silent_p.L141L			P02753	RET4_HUMAN	retinol binding protein 4, plasma	143					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597																																					Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(427-429)ctC>ctT		retinol binding protein 4, plasma	Vitamin A(DB00162)	G		0,4406		0,0,2203	146	120	129		429	-11.6	0	10		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBP4	NM_006744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		143/202	95353719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95353719G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"Lipocalins"	9922	protein-coding gene	gene with protein product		180250	"retinol-binding protein 4, plasma"				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.429C>T	10.37:g.95353719G>A						FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L|RBP4_ENST00000371469.2_Silent_p.L141L	p.L143L			P02753	RET4_HUMAN			5	748	-		Colorectal(252;0.122)	143					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Silent	SNP	ENST00000371467.1	37	c.429C>T	CCDS31249.1																																																																																				0.597	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		115	532	0	0	0	1	0	115	532					A	95353719	G	A	95353719	2	1	79	1	0	0	0	0	0	0	0	1	13208	1045	37	1		1	RBP4	10	95353719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270853	95353719	40181028	11226	21543											
RBP4	5950	broad.mit.edu	37	chr10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtactgcacggcatacGtgtcgtagtctgtgtcgacg	14	9	1	0	rs577540732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|RBP4_ENST00000371469.2_Missense_Mutation_p.T129M			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		15959	0.001		0.0	False		,,,				2504	0.0				Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(391-393)aCg>aTg		retinol binding protein 4, plasma	Vitamin A(DB00162)						157	111	126					10																	95353756		2203	4300	6503	SO:0001583	missense	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95353756G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"Lipocalins"	9922	protein-coding gene	gene with protein product		180250	"retinol-binding protein 4, plasma"				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.392C>T	10.37:g.95353756G>A	ENSP00000360522:p.Thr131Met					FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|RBP4_ENST00000371469.2_Missense_Mutation_p.T129M	p.T131M			P02753	RET4_HUMAN			5	711	-		Colorectal(252;0.122)	131					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	c.392C>T	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480046	0.84747	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.044055	0.85682	D	0.000000	D	0.90352	0.6981	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.66497	0.944	D	0.90539	0.4501	10	0.87932	D	0	-28.7418	20.0851	0.97797	0.0:0.0:1.0:0.0	.	131	P02753	RET4_HUMAN	M	131;129;131;129	ENSP00000360519:T131M;ENSP00000360522:T131M	ENSP00000360518:T129M	T	-	2	0	RBP4	95343746	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.843000	0.69424	2.743000	0.94032	0.563000	0.77884	ACG		0.582	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		88	414	0	0	0	1	0	88	414					A	95353756	G	A	95353756	3	1	79	1	0	0	0	0	1	0	0	0	13208	1145	40	1	221	1	RBP4	10	95353756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	95353756	40180991	11227	21544											
PDE6C	5146	broad.mit.edu	37	chr10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattttagaaatttcaagaGaagttaaatgttgatgtaat	7	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	475					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AATTTCAAGAGAAGTTAAATG	0.308																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1423-1425)gaG>gaT		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							75	77	76					10																	95396763		2201	4299	6500	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95396763G>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1425G>T	10.37:g.95396763G>T	ENSP00000360502:p.Glu475Asp						p.E475D	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			11	1563	+		Colorectal(252;0.123)	475					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1425G>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904077	0.33628	.	.	ENSG00000095464	ENST00000371447	T	0.65549	-0.16	5.0	0.877	0.19145	.	0.047002	0.85682	D	0.000000	T	0.50394	0.1613	L	0.54965	1.715	0.48975	D	0.999737	B	0.15719	0.014	B	0.16289	0.015	T	0.41840	-0.9486	10	0.44086	T	0.13	.	6.0976	0.20028	0.2834:0.0:0.5933:0.1234	.	475	P51160	PDE6C_HUMAN	D	475	ENSP00000360502:E475D	ENSP00000360502:E475D	E	+	3	2	PDE6C	95386753	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.304000	0.33482	0.398000	0.25338	0.561000	0.74099	GAG		0.308	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		19	102	1	0	2.35188e-11	1	2.50879e-11	19	102					T	95396763	G	T	95396763	3	4	79	1	0	0	0	0	1	0	0	0	11689	933	33	3	1467	3	PDE6C	10	95396763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43007	95396763	40137984	11228	21545											
PLCE1	51196	broad.mit.edu	37	chr10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatgagttttgttgaatTtgttgagctgttcaaatcat	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1218					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3652-3654)tTt>tCt		phospholipase C, epsilon 1							199	189	192					10																	96018655		1911	4129	6040	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018655T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3653T>C	10.37:g.96018655T>C	ENSP00000360431:p.Phe1218Ser					PLCE1_ENST00000371380.2_Missense_Mutation_p.F1218S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S	p.F1218S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			12	4287	+		Colorectal(252;0.0458)	1218					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3653T>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760881	0.89932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.62723	1.935	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.84312	0.0511	10	0.87932	D	0	.	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1202;910;1218	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1218;1218;910;910	ENSP00000260766:F1218S;ENSP00000360431:F1218S;ENSP00000360438:F910S;ENSP00000360426:F910S	ENSP00000260766:F1218S	F	+	2	0	PLCE1	96008645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.622000	0.83099	2.203000	0.70933	0.454000	0.30748	TTT		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		98	437	0	0	0	1	0	98	437					C	96018655	T	C	96018655	3	2	79	1	0	0	0	0	1	0	0	0	12076	1841	64	4	3981	4	PLCE1	10	96018655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	621892	96018655	39516092	11229	21546											
PLCE1	51196	broad.mit.edu	37	chr10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctgttgaccagaaatgTctcggatttggggttgttca	12	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1278					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3832-3834)gTc>gGc		phospholipase C, epsilon 1							240	218	225					10																	96022269		1938	4142	6080	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022269T>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3833T>G	10.37:g.96022269T>G	ENSP00000360431:p.Val1278Gly					PLCE1_ENST00000371380.2_Missense_Mutation_p.V1278G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G	p.V1278G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4467	+		Colorectal(252;0.0458)	1278					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3833T>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209914	0.39003	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25414	1.8;1.8;1.83;1.83	5.91	5.91	0.95273	.	0.073163	0.56097	D	0.000034	T	0.13500	0.0327	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.16305	-1.0407	10	0.22706	T	0.39	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1262;970;1278	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	1278;1278;970;970	ENSP00000260766:V1278G;ENSP00000360431:V1278G;ENSP00000360438:V970G;ENSP00000360426:V970G	ENSP00000260766:V1278G	V	+	2	0	PLCE1	96012259	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.211000	0.72182	2.261000	0.74972	0.533000	0.62120	GTC		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		167	737	0	0	0	1	0	167	737					G	96022269	T	G	96022269	3	3	79	1	0	0	0	0	1	0	0	0	12076	1667	58	4	4169	4	PLCE1	10	96022269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3614	96022269	39512478	11230	21547											
PLCE1	51196	broad.mit.edu	37	chr10	96022417	96022417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttggggtgggcatactTcagctcaacgatttcctcgt	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000371385.3_Silent_p.L1019L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000260766.3_Silent_p.L1327L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1327					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3979-3981)ctT>ctC		phospholipase C, epsilon 1							203	199	200					10																	96022417		2017	4189	6206	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022417T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3981T>C	10.37:g.96022417T>C						PLCE1_ENST00000371380.2_Silent_p.L1327L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000371385.3_Silent_p.L1019L	p.L1327L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4615	+		Colorectal(252;0.0458)	1327					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.3981T>C	CCDS41552.1																																																																																				0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		134	616	0	0	0	1	0	134	616					C	96022417	T	C	96022417	2	2	79	1	0	0	0	0	0	0	0	1	12076	1770	62	4		4	PLCE1	10	96022417	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148	96022417	39512330	11231	21548											
PLCE1	51196	broad.mit.edu	37	chr10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattgtcaagcagtaaaatTtccaggtaagattaggcaat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1677					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5029-5031)tTt>tCt		phospholipase C, epsilon 1							61	54	56					10																	96044717		1798	4076	5874	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96044717T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5030T>C	10.37:g.96044717T>C	ENSP00000360431:p.Phe1677Ser					PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371380.2_Missense_Mutation_p.F1677S|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000440198.1_RNA	p.F1677S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			22	5664	+		Colorectal(252;0.0458)	1677					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5030T>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730133	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.255913	0.39083	N	0.001465	T	0.63438	0.2511	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	T	0.65817	-0.6076	10	0.59425	D	0.04	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1661;1369;1677	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1677;1677;1369;1369	ENSP00000260766:F1677S;ENSP00000360431:F1677S;ENSP00000360438:F1369S;ENSP00000360426:F1369S	ENSP00000260766:F1677S	F	+	2	0	PLCE1	96034707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.953000	0.87836	2.178000	0.69098	0.454000	0.30748	TTT		0.318	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		47	175	0	0	0	1	0	47	175					C	96044717	T	C	96044717	3	2	79	1	0	0	0	0	1	0	0	0	12076	1841	64	4	5398	4	PLCE1	10	96044717	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22300	96044717	39490030	11232	21549											
PLCE1	51196	broad.mit.edu	37	chr10	96076504	96076504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggattgtcttaaaaacCcagcaggaagtaagtgtgtc	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_ENST00000371385.3_Silent_p.T1803T|NOC3L_ENST00000543788.1_Intron|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000260766.3_Silent_p.T2111T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2111	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6331-6333)acC>acT		phospholipase C, epsilon 1							69	69	69					10																	96076504		1902	4108	6010	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96076504C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6333C>T	10.37:g.96076504C>T						NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371380.2_Silent_p.T2111T|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000371385.3_Silent_p.T1803T	p.T2111T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			29	6967	+		Colorectal(252;0.0458)	2111			Ras-associating 1.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.6333C>T	CCDS41552.1																																																																																				0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		28	138	0	0	0	1	0	28	138					T	96076504	C	T	96076504	2	4	79	1	0	0	0	0	0	0	0	1	12076	610	22	2		2	PLCE1	10	96076504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31787	96076504	39458243	11233	21550											
NOC3L	64318	broad.mit.edu	37	chr10	96100033	96100033	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattatctaaacatacatacCtgcatgtaatttgaacagtg	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	594					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.e16+1		nucleolar complex associated 3 homolog (S. cerevisiae)							95	92	93					10																	96100033		2203	4298	6501	SO:0001630	splice_region_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96100033C>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1780+1G>T	10.37:g.96100033C>A						NOC3L_ENST00000543788.1_Splice_Site_p.G332_splice|NOC3L_ENST00000371350.1_Splice_Site_p.G594_splice	p.G594_splice	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			16	1880	-		Colorectal(252;0.0897)	594					Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	37	c.1780_splice	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344627	0.82022	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.30981	1.98;1.51;1.51	5.19	5.19	0.71726	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	9	.	.	.	-12.8635	19.0883	0.93215	0.0:1.0:0.0:0.0	.	594	Q8WTT2	NOC3L_HUMAN	C	332;594;594	ENSP00000437838:G332C;ENSP00000360412:G594C;ENSP00000360401:G594C	.	G	-	1	0	NOC3L	96090023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.626000	0.67777	2.596000	0.87737	0.655000	0.94253	GGT		0.299	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Missense_Mutation	31	171	1	0	6.04164e-23	1	6.85534e-23	31	171					A	96100033	C	A	96100033	5	1	79	1	0	0	0	0	0	0	1	0	10556	695	24	3	646	3	NOC3L	10	96100033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23529	96100033	39434714	11234	21551											
NOC3L	64318	broad.mit.edu	37	chr10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatctataatgcgttcatGcttccgtttcttcgcatgaa	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	127					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(379-381)Cat>Tat		nucleolar complex associated 3 homolog (S. cerevisiae)							97	89	91					10																	96117060		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96117060G>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.379C>T	10.37:g.96117060G>A	ENSP00000360412:p.His127Tyr					NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y|NOC3L_ENST00000463649.1_5'UTR	p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			4	479	-		Colorectal(252;0.0897)	127					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.379C>T	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064960	0.01934	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11821	2.74;2.74	5.16	0.841	0.18918	.	0.807371	0.12019	N	0.507107	T	0.06826	0.0174	N	0.08118	0	0.21627	N	0.999615	B	0.19935	0.04	B	0.34779	0.189	T	0.48937	-0.8990	10	0.07813	T	0.8	-9.2634	6.2289	0.20724	0.1392:0.0:0.5021:0.3587	.	127	Q8WTT2	NOC3L_HUMAN	Y	127	ENSP00000360412:H127Y;ENSP00000360401:H127Y	ENSP00000360401:H127Y	H	-	1	0	NOC3L	96107050	0.975000	0.34042	0.895000	0.35142	0.422000	0.31414	1.859000	0.39418	0.260000	0.21731	0.655000	0.94253	CAT		0.348	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		58	195	0	0	0	1	0	58	195					A	96117060	G	A	96117060	3	1	79	1	0	0	0	0	1	0	0	0	10556	1319	46	2	2095	2	NOC3L	10	96117060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17027	96117060	39417687	11235	21552											
TBC1D12	23232	broad.mit.edu	37	chr10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccagaagatatcacatcgGaaaagctgttcagttgtatt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	733							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(2197-2199)Gaa>Aaa		TBC1 domain family, member 12							92	86	88					10																	96291155		1854	4093	5947	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96291155G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2197G>A	10.37:g.96291155G>A	ENSP00000225235:p.Glu733Lys					TBC1D12_ENST00000485048.1_3'UTR	p.E733K	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			12	2307	+		Colorectal(252;0.0429)	733					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.2197G>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426670	0.83667	.	.	ENSG00000108239	ENST00000225235	T	0.24151	1.87	5.31	5.31	0.75309	Rab-GAP/TBC domain (1);	0.166270	0.53938	D	0.000047	T	0.37919	0.1021	L	0.61218	1.895	0.53005	D	0.999969	P	0.50943	0.94	P	0.49140	0.601	T	0.14476	-1.0471	10	0.62326	D	0.03	-9.8376	16.527	0.84333	0.0:0.0:1.0:0.0	.	733	O60347	TBC12_HUMAN	K	733	ENSP00000225235:E733K	ENSP00000225235:E733K	E	+	1	0	TBC1D12	96281145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.199000	0.51043	2.768000	0.95171	0.650000	0.86243	GAA		0.358	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			96	409	0	0	0	1	0	96	409					A	96291155	G	A	96291155	3	1	79	1	0	0	0	0	1	0	0	0	15653	1175	41	2	2243	2	TBC1D12	10	96291155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174095	96291155	39243592	11236	21553											
HELLS	3070	broad.mit.edu	37	chr10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctccttaagatcgatgaaGaattggtaacaaattctggg	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCGATGAAGAATTGGTAAC	0.343																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1777-1779)Gaa>Taa		helicase, lymphoid-specific							52	57	56					10																	96351995		2202	4299	6501	SO:0001587	stop_gained	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96351995G>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1777G>T	10.37:g.96351995G>T	ENSP00000239027:p.Glu593*					HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|RP11-119K6.6_ENST00000432120.1_RNA	p.E593*	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	16	1882	+		Colorectal(252;0.0429)	593						Nonsense_Mutation	SNP	ENST00000348459.5	37	c.1777G>T	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127452	0.94473	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	.	0.160191	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9214	18.2637	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	593;495;639;30	.	ENSP00000239027:E593X	E	+	1	0	HELLS	96341985	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	3.534000	0.53568	2.550000	0.86006	0.563000	0.77884	GAA		0.343	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		45	202	1	0	8.48111e-28	1	9.83746e-28	45	202					T	96351995	G	T	96351995	4	4	79	1	0	0	0	0	0	1	0	0	7076	943	33	3	1839	3	HELLS	10	96351995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60840	96351995	39182752	11237	21554											
CYP2C18	1562	broad.mit.edu	37	chr10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcggaattttgggatgGggaagaggagcatcgaggac	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	137					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTTTGGGATGGGGAAGAGGAG	0.478																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(409-411)Ggg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18							124	116	119					10																	96447959		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96447959G>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.409G>T	10.37:g.96447959G>T	ENSP00000285979:p.Gly137Trp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W|CYP2C19_ENST00000464755.1_3'UTR	p.G137W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	608	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.409G>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	18.84	3.708896	0.68615	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71461	-0.57;-0.57	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.89118	0.6624	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	137;137	Q4VAT5;P33260	.;CP2CI_HUMAN	W	137	ENSP00000341293:G137W;ENSP00000285979:G137W	ENSP00000285979:G137W	G	+	1	0	CYP2C18	96437949	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.658000	0.91110	2.105000	0.64084	0.306000	0.20318	GGG		0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		88	383	1	0	4.3955e-51	1	5.45232e-51	88	383					T	96447959	G	T	96447959	3	4	79	1	0	0	0	0	1	0	0	0	4176	1232	43	3	419	3	CYP2C18	10	96447959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95964	96447959	39086788	11238	21555											
CYP2C18	1562	broad.mit.edu	37	chr10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatgccctacacagatgCtgtggtgcacgagatccaga	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	350					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TACACAGATGCTGTGGTGCAC	0.498																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1048-1050)gCt>gAt		cytochrome P450, family 2, subfamily C, polypeptide 18							247	202	217					10																	96484190		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96484190C>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1049C>A	10.37:g.96484190C>A	ENSP00000285979:p.Ala350Asp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D|CYP2C19_ENST00000464755.1_3'UTR	p.A350D	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	7	1248	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1049C>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121808	0.56613	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73258	-0.73;-0.73	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.90981	0.7164	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.943	D	0.94486	0.7697	10	0.87932	D	0	.	13.9702	0.64235	0.0:1.0:0.0:0.0	.	291;350	Q4VAT5;P33260	.;CP2CI_HUMAN	D	291;350	ENSP00000341293:A291D;ENSP00000285979:A350D	ENSP00000285979:A350D	A	+	2	0	CYP2C18	96474180	1.000000	0.71417	0.078000	0.20375	0.093000	0.18481	5.162000	0.64942	2.115000	0.64714	0.313000	0.20887	GCT		0.498	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		128	539	1	0	1.4482e-55	1	1.81058e-55	128	539					A	96484190	C	A	96484190	3	1	79	1	0	0	0	0	1	0	0	0	4176	797	28	3	1075	3	CYP2C18	10	96484190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36231	96484190	39050557	11239	21556											
CYP2C18	1562	broad.mit.edu	37	chr10	96493196	96493196	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgcctttctcagcagGtaatagatattcatttccat	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTCTCAGCAGGTAATAGATAT	0.438																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.e8+1		cytochrome P450, family 2, subfamily C, polypeptide 18							127	114	119					10																	96493196		2203	4300	6503	SO:0001630	splice_region_variant	1562							g.chr10:96493196G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1291+1G>A	10.37:g.96493196G>A						CYP2C18_ENST00000339022.5_Splice_Site|CYP2C19_ENST00000464755.1_Splice_Site		NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	8	1490	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Splice_Site	SNP	ENST00000285979.6	37		CCDS7435.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405243	0.25378	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.05	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3368	0.38056	0.1076:0.0:0.8924:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C18	96483186	1.000000	0.71417	0.995000	0.50966	0.163000	0.22366	8.335000	0.90031	0.886000	0.36113	0.455000	0.32223	.		0.438	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	Intron	110	383	0	0	0	1	0	110	383					A	96493196	G	A	96493196	5	1	79	1	0	0	0	0	0	0	1	0	4176	1275	44	2	1322	2	CYP2C18	10	96493196	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9006	96493196	39041551	11240	21557											
CYP2C9	1559	broad.mit.edu	37	chr10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccattattttccataaacGttttgattataaagatcagc	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCATAAACGTTTTGATTAT	0.373																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(556-558)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						121	121	121					10																	96707611		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96707611G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.557G>A	10.37:g.96707611G>A	ENSP00000260682:p.Arg186His						p.R186H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	4	569	+		Colorectal(252;0.0902)	186					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.557G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100572	0.56183	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14022	2.54	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.21468	0.0517	M	0.86864	2.845	0.39244	D	0.963903	P;P	0.49447	0.924;0.924	B;B	0.40228	0.323;0.323	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	H	186	ENSP00000260682:R186H	ENSP00000260682:R186H	R	+	2	0	CYP2C9	96697601	1.000000	0.71417	0.742000	0.31022	0.906000	0.53458	4.197000	0.58413	1.955000	0.56771	0.491000	0.48974	CGT		0.373	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		65	613	0	0	0	1	0	65	613					A	96707611	G	A	96707611	3	1	79	1	0	0	0	0	1	0	0	0	4179	1145	40	1	571	1	CYP2C9	10	96707611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214415	96707611	38827136	11241	21558											
SORBS1	10580	broad.mit.edu	37	chr10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggaggcaagggtgggGtcagggccagagaacgcctg	20	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000361941.3	-	28	3037	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAAGGGTGGGGTCAGGGCCAG	0.637																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3010-3012)aCc>aTc		sorbin and SH3 domain containing 1							34	38	36					10																	97096906		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096906G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3011C>T	10.37:g.97096906G>A	ENSP00000355136:p.Thr1004Ile					SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1004I|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron	p.T1004I			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3200	-		Colorectal(252;0.0429)	1004						Missense_Mutation	SNP	ENST00000361941.3	37	c.3011C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653179	0.88056	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.10668	2.87;2.85;2.87	5.58	5.58	0.84498	.	0.000000	0.43579	D	0.000555	T	0.20170	0.0485	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13818	-1.0495	10	0.17832	T	0.49	-13.6303	19.5597	0.95367	0.0:0.0:1.0:0.0	.	958;1004	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	I	1004;958;1004	ENSP00000360293:T1004I;ENSP00000360271:T958I;ENSP00000355136:T1004I	ENSP00000355136:T1004I	T	-	2	0	SORBS1	97086896	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.188000	0.94921	2.641000	0.89580	0.561000	0.74099	ACC		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			21	216	0	0	0	1	0	21	216					A	97096906	G	A	97096906	3	1	79	1	0	0	0	0	1	0	0	0	14977	1261	44	2	947	2	SORBS1	10	97096906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389295	97096906	38437841	11242	21559											
ALDH18A1	5832	broad.mit.edu	37	chr10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagtggagggcctgccGcacgctctgagacagaagga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	138	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		AGGGCCTGCCGCACGCTCTGA	0.552																																						ENST00000371224.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(412-414)Cgg>Tgg		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						115	102	106					10																	97397085		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97397085G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.412C>T	10.37:g.97397085G>A	ENSP00000360268:p.Arg138Trp					ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W|ALDH18A1_ENST00000483788.1_5'UTR	p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	4	549	-		Colorectal(252;0.0402)	138			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.412C>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052093	0.75960	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.79454	-1.27;-1.27	5.6	1.25	0.21368	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88794	0.3280	10	0.87932	D	0	-18.3088	13.2574	0.60087	0.0:0.0:0.4611:0.5389	.	138;138	P54886;P54886-2	P5CS_HUMAN;.	W	138	ENSP00000360268:R138W;ENSP00000360265:R138W	ENSP00000360265:R138W	R	-	1	2	ALDH18A1	97387075	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.162000	0.31786	0.261000	0.21753	0.555000	0.69702	CGG		0.552	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		77	360	0	0	0	1	0	77	360					A	97397085	G	A	97397085	3	1	79	1	0	0	0	0	1	0	0	0	489	1086	38	1	2035	1	ALDH18A1	10	97397085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300179	97397085	38137662	11243	21560											
TCTN3	26123	broad.mit.edu	37	chr10	97440291	97440291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagcttgcgggttggacaGgagacctacatatgcccaca	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000371217.5	-	13	1551	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	TCTN3_ENST00000265993.9_Missense_Mutation_p.L528M|TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M			Q6NUS6	TECT3_HUMAN	tectonic family member 3	510					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGGTTGGACAGGAGACCTACA	0.463																																						ENST00000265993.8																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1528-1530)Ctg>Atg		tectonic family member 3							213	201	205					10																	97440291		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97440291G>T	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"Tectonic proteins"	24519	protein-coding gene	gene with protein product		613847	"chromosome 10 open reading frame 61"	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1528C>A	10.37:g.97440291G>T	ENSP00000360261:p.Leu510Met					TCTN3_ENST00000371217.4_Missense_Mutation_p.L523M|TCTN3_ENST00000430368.1_Missense_Mutation_p.L362M	p.L510M	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1771	-		Colorectal(252;0.0815)	510					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1528C>A	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910012	0.52439	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.85861	-2.04	5.57	4.66	0.58398	.	1.096970	0.06730	N	0.776530	D	0.89649	0.6776	M	0.73598	2.24	0.24577	N	0.993896	P;P;P	0.46621	0.836;0.8;0.881	P;B;P	0.53185	0.572;0.347;0.72	T	0.78157	-0.2313	10	0.33940	T	0.23	-37.034	10.7357	0.46124	0.0896:0.0:0.9104:0.0	.	362;510;332	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	M	510;362;528;332	ENSP00000265993:L510M	ENSP00000265993:L510M	L	-	1	2	TCTN3	97430281	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.974000	0.49272	2.640000	0.89533	0.655000	0.94253	CTG		0.463	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		17	835	1	0	3.52763e-06	1	3.62938e-06	17	835					T	97440291	G	T	97440291	3	4	79	1	0	0	0	0	1	0	0	0	15776	991	35	3	303	3	TCTN3	10	97440291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43206	97440291	38094456	11244	21561											
CC2D2B	387707	broad.mit.edu	37	chr10	97773576	97773576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgatttgtatctttgattcCttttgtgcctaatacaccag	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97773576C>A	ENST00000344386.3	+	5	514	c.350C>A	c.(349-351)cCt>cAt	p.P117H	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	117										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCTTTGATTCCTTTTGTGCCT	0.313																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(349-351)cCt>cAt		coiled-coil and C2 domain containing 2B							124	122	123					10																	97773576		1869	4106	5975	SO:0001583	missense	387707							g.chr10:97773576C>A	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.350C>A	10.37:g.97773576C>A	ENSP00000343747:p.Pro117His					RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	p.P117H	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	5	514	+		Colorectal(252;0.158)	117					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.350C>A	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160470	0.78226	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;T;T	0.96334	-3.98;-0.56;-0.56	5.89	5.89	0.94794	.	.	.	.	.	D	0.98388	0.9464	M	0.88450	2.955	0.38858	D	0.956423	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99912	1.1207	9	0.87932	D	0	.	17.2314	0.86985	0.0:1.0:0.0:0.0	.	117;117	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	H	178;117;117;117	ENSP00000391834:P178H;ENSP00000386988:P117H;ENSP00000343747:P117H	ENSP00000343747:P117H	P	+	2	0	CC2D2B	97763566	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.038000	0.64177	2.817000	0.96982	0.644000	0.83932	CCT		0.313	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		34	170	1	0	3.66082e-28	1	4.25431e-28	34	170					A	97773576	C	A	97773576	3	1	79	1	0	0	0	0	1	0	0	0	2736	681	24	3	364	3	CC2D2B	10	97773576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333285	97773576	37761171	11245	21562											
CCNJ	54619	broad.mit.edu	37	chr10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagacctcactgcagtatCgccatcctacgtcagaacaa	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	291						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ACTGCAGTATCGCCATCCTAC	0.498																																						ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(871-873)Cgc>Tgc		cyclin J							306	256	273					10																	97817750		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97817750C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.871C>T	10.37:g.97817750C>T	ENSP00000265992:p.Arg291Cys					CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C	p.R291C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1238	+			291					B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.871C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230083	0.39399	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.46063	0.88;1.47;0.88	5.5	5.5	0.81552	.	0.284824	0.39687	N	0.001287	T	0.24392	0.0591	N	0.08118	0	0.45284	D	0.998287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05419	-1.0886	10	0.39692	T	0.17	-12.6063	12.6537	0.56776	0.0:0.92:0.0:0.08	.	302;290;291	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	C	291;302;290;291	ENSP00000265992:R291C;ENSP00000384498:R290C;ENSP00000441415:R291C	ENSP00000265992:R291C	R	+	1	0	CCNJ	97807740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.744000	0.94065	0.655000	0.94253	CGC		0.498	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		148	565	0	0	0	1	0	148	565					T	97817750	C	T	97817750	3	4	79	1	0	0	0	0	1	0	0	0	2937	884	31	1	922	1	CCNJ	10	97817750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44174	97817750	37716997	11246	21563											
ZNF518A	9849	broad.mit.edu	37	chr10	97916210	97916210	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggaagtattcattatgCactaaaaaatgtgaaaattg	7	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	ENST00000534948.1	+	0	988							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTCATTATGCACTAAAAAAT	0.269																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							41	41	41					10																	97916210		1791	4059	5850			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916210C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916210C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	988	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.269	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		40	164	0	0	0	1	0	40	164					T	97916210	C	T	97916210	1	4	79	0	1	0	0	0	0	0	0	0	18015	710	25	2		2	ZNF518A	10	97916210	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98460	97916210	37618537	11247	21564											
BLNK	29760	broad.mit.edu	37	chr10	97967627	97967627	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatgcaaaattaacttaCtgtcttcagtggtgtcgttg	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.e10+1		B-cell linker							119	116	117					10																	97967627		2203	4300	6503	SO:0001630	splice_region_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97967627C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.774+1G>A	10.37:g.97967627C>T						BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site		NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	10	916	-		Colorectal(252;0.083)						O75498|O75499|Q2MD49	Splice_Site	SNP	ENST00000224337.5	37		CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743713	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4791	0.75511	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97957617	0.998000	0.40836	0.973000	0.42090	0.936000	0.57629	3.494000	0.53273	2.809000	0.96659	0.655000	0.94253	.		0.328	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	Intron	63	279	0	0	0	1	0	63	279					T	97967627	C	T	97967627	5	4	79	1	0	0	0	0	0	0	1	0	1449	579	20	2	627	2	BLNK	10	97967627	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51417	97967627	37567120	11248	21565											
DNTT	1791	broad.mit.edu	37	chr10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacgggtgccttgatgGcctcctctcctcaagacatc	11	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000371174.2	+	1	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.A24T			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	24					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(70-72)Gcc>Acc		DNA nucleotidylexotransferase							49	55	53					10																	98064324		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064324G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.70G>A	10.37:g.98064324G>A	ENSP00000360216:p.Ala24Thr					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.A24T	p.A24T	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	240	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	24					Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.70G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408741	0.25378	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	0.955	0.19602	.	0.981743	0.08379	N	0.954821	T	0.11024	0.0269	M	0.66939	2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40117	-0.9580	10	0.25106	T	0.35	-4.0979	2.978	0.05943	0.0949:0.13:0.2973:0.4778	.	24;24	P04053-2;P04053	.;TDT_HUMAN	T	24	ENSP00000401169:A24T;ENSP00000360216:A24T	ENSP00000360216:A24T	A	+	1	0	DNTT	98054314	0.005000	0.15991	0.048000	0.18961	0.138000	0.21146	0.775000	0.26689	0.688000	0.31529	0.655000	0.94253	GCC		0.577	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		67	285	0	0	0	1	0	67	285					A	98064324	G	A	98064324	3	1	79	1	0	0	0	0	1	0	0	0	4696	1203	42	2	72	2	DNTT	10	98064324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96697	98064324	37470423	11249	21566											
DNTT	1791	broad.mit.edu	37	chr10	98064345	98064345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctcctcaagacatcAaatttcaagatttggtcgtc	5	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064345A>G	ENST00000371174.2	+	1	193	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.K31E			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	31	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAAGACATCAAATTTCAAGA	0.557																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(91-93)Aaa>Gaa		DNA nucleotidylexotransferase							45	51	49					10																	98064345		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064345A>G	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.91A>G	10.37:g.98064345A>G	ENSP00000360216:p.Lys31Glu					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.K31E	p.K31E	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	261	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	31			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.91A>G	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701265	0.68501	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.79454	-1.27;-1.27	5.76	3.36	0.38483	BRCT (3);	0.154687	0.53938	D	0.000041	D	0.82995	0.5158	M	0.76328	2.33	0.33866	D	0.634366	P;P	0.35944	0.473;0.529	P;P	0.49528	0.48;0.614	D	0.86221	0.1631	10	0.56958	D	0.05	-11.3577	11.2234	0.48869	0.7369:0.2631:0.0:0.0	.	31;31	P04053-2;P04053	.;TDT_HUMAN	E	31	ENSP00000401169:K31E;ENSP00000360216:K31E	ENSP00000360216:K31E	K	+	1	0	DNTT	98054335	1.000000	0.71417	0.835000	0.33067	0.673000	0.39480	2.387000	0.44389	0.422000	0.26005	0.533000	0.62120	AAA		0.557	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		6	300	0	0	0	1	0	6	300					G	98064345	A	G	98064345	3	3	79	1	0	0	0	0	1	0	0	0	4696	131	5	4	93	4	DNTT	10	98064345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	98064345	37470402	11250	21567											
OPALIN	93377	broad.mit.edu	37	chr10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatcccctccttctttccAtttctatagtaggacggtaa	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000371172.3	-	6	779	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	125						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517																																						ENST00000419479.1																			2	Substitution - Missense(2)	p.M115T(1)|p.M125T(1)	lung(2)	breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						c.(343-345)aTg>aCg		oligodendrocytic myelin paranodal and inner loop protein							168	146	153					10																	98105750		2203	4300	6503	SO:0001583	missense	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105750A>G	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"transmembrane protein 10"	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.374T>C	10.37:g.98105750A>G	ENSP00000360214:p.Met125Thr					OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	p.M115T	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN			7	851	-			125					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.344T>C	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276167	0.23307	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	0.291	0.15732	.	0.846034	0.10440	N	0.674364	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27732	0.187;0.11;0.001	B;B;B	0.22601	0.04;0.04;0.001	T	0.24512	-1.0158	9	0.72032	D	0.01	-1.154	3.7161	0.08438	0.6011:0.1903:0.2086:0.0	.	102;125;115	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	125;102;115;114;115	.	ENSP00000360214:M125T	M	-	2	0	OPALIN	98095740	0.009000	0.17119	0.089000	0.20774	0.896000	0.52359	-0.209000	0.09358	-0.045000	0.13468	0.528000	0.53228	ATG		0.517	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		137	515	0	0	0	1	0	137	515					G	98105750	A	G	98105750	3	3	79	1	0	0	0	0	1	0	0	0	10915	217	8	4	55	4	OPALIN	10	98105750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41405	98105750	37428997	11251	21568											
TLL2	7093	broad.mit.edu	37	chr10	98182405	98182405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcccagctcgtgagccaCaatgccaaacttgtcacagt	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98182405C>T	ENST00000357947.3	-	6	943	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	240	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCGTGAGCCACAATGCCAAAC	0.547																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(718-720)Gtg>Atg		tolloid-like 2							185	142	157					10																	98182405		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98182405C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.718G>A	10.37:g.98182405C>T	ENSP00000350630:p.Val240Met					TLL2_ENST00000469598.1_5'UTR	p.V240M	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	6	943	-		Colorectal(252;0.0846)	240			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.718G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286272	0.95517	.	.	ENSG00000095587	ENST00000357947	T	0.68331	-0.32	5.64	5.64	0.86602	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	D	0.000949	D	0.85159	0.5633	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86596	0.1863	10	0.54805	T	0.06	.	18.6895	0.91578	0.0:1.0:0.0:0.0	.	240	Q9Y6L7	TLL2_HUMAN	M	240	ENSP00000350630:V240M	ENSP00000350630:V240M	V	-	1	0	TLL2	98172395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.768000	0.85345	2.657000	0.90304	0.655000	0.94253	GTG		0.547	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	380	0	0	0	1	0	15	380					T	98182405	C	T	98182405	3	4	79	1	0	0	0	0	1	0	0	0	15998	478	17	2	2393	2	TLL2	10	98182405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76655	98182405	37352342	11252	21569											
TLL2	7093	broad.mit.edu	37	chr10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataaagctttcctcatccGtcctttctatgaaggtcaca	5	12	3	1	rs566307721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCCTCATCCGTCCTTTCTAT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.001					ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(595-597)aCg>aTg		tolloid-like 2							139	115	123					10																	98188430		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188430G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.596C>T	10.37:g.98188430G>A	ENSP00000350630:p.Thr199Met					TLL2_ENST00000469598.1_5'UTR	p.T199M	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	5	821	-		Colorectal(252;0.0846)	199			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.596C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148195	0.78001	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	5.67	5.67	0.87782	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45126	D	0.000396	T	0.70666	0.3250	M	0.79343	2.45	0.80722	D	1	P	0.49358	0.923	P	0.45881	0.496	T	0.75587	-0.3266	10	0.66056	D	0.02	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	199	Q9Y6L7	TLL2_HUMAN	M	199	ENSP00000350630:T199M	ENSP00000350630:T199M	T	-	2	0	TLL2	98178420	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.856000	0.86956	2.676000	0.91093	0.650000	0.86243	ACG		0.493	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			54	316	0	0	0	1	0	54	316					A	98188430	G	A	98188430	3	1	79	1	0	0	0	0	1	0	0	0	15998	1145	40	1	2519	1	TLL2	10	98188430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6025	98188430	37346317	11253	21570											
TM9SF3	56889	broad.mit.edu	37	chr10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatattggtaaatcatctAtgtacatctggtaccagtaa	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	134						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TAAATCATCTATGTACATCTG	0.308																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(400-402)aTa>aCa		transmembrane 9 superfamily member 3							154	156	155					10																	98325081		2202	4296	6498	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98325081A>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.401T>C	10.37:g.98325081A>G	ENSP00000360184:p.Ile134Thr						p.I134T	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	3	617	-		Colorectal(252;0.158)	134					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.401T>C	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605645	0.87157	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.93978	3.48	0.80722	D	1	D	0.53462	0.96	P	0.57244	0.816	T	0.80957	-0.1150	10	0.72032	D	0.01	-19.9242	15.3	0.73940	1.0:0.0:0.0:0.0	.	134	Q9HD45	TM9S3_HUMAN	T	134;90	ENSP00000360184:I134T;ENSP00000401152:I90T	ENSP00000360184:I134T	I	-	2	0	TM9SF3	98315071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.921000	0.92784	2.201000	0.70794	0.460000	0.39030	ATA		0.308	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		22	398	0	0	0	1	0	22	398					G	98325081	A	G	98325081	3	3	79	1	0	0	0	0	1	0	0	0	16031	449	16	4	1420	4	TM9SF3	10	98325081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136651	98325081	37209666	11254	21571											
PIK3AP1	118788	broad.mit.edu	37	chr10	98376418	98376418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctttcctgatttttgCttctctctctgtcttcgggt	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	664					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGATTTTTGCTTCTCTCTCT	0.433																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1990-1992)aaG>aaA		phosphoinositide-3-kinase adaptor protein 1							442	347	380					10																	98376418		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98376418C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1992G>A	10.37:g.98376418C>T						PIK3AP1_ENST00000371110.2_Silent_p.K486K|PIK3AP1_ENST00000371109.3_Silent_p.K263K	p.K664K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	13	2111	-		Colorectal(252;0.0442)	664					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1992G>A	CCDS31259.1																																																																																				0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		114	602	0	0	0	1	0	114	602					T	98376418	C	T	98376418	2	4	79	1	0	0	0	0	0	0	0	1	11950	796	28	2		2	PIK3AP1	10	98376418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51337	98376418	37158329	11255	21572											
PIK3AP1	118788	broad.mit.edu	37	chr10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccatggactcgtacacaGcatcagcctcctccccgtgc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	417					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTCGTACACAGCATCAGCCTC	0.552																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1249-1251)gCt>gAt		phosphoinositide-3-kinase adaptor protein 1							187	146	160					10																	98405355		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98405355G>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1250C>A	10.37:g.98405355G>T	ENSP00000339826:p.Ala417Asp					PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	p.A417D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	8	1369	-		Colorectal(252;0.0442)	417					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1250C>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679631	0.00751	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.15372	3.1;2.43	5.81	1.62	0.23740	.	0.570773	0.20462	N	0.091861	T	0.06917	0.0176	N	0.04508	-0.205	0.18873	N	0.999987	B	0.06786	0.001	B	0.09377	0.004	T	0.39251	-0.9623	10	0.02654	T	1	-1.1317	14.6981	0.69136	0.0:0.0:0.4863:0.5137	.	417	Q6ZUJ8	BCAP_HUMAN	D	417;239	ENSP00000339826:A417D;ENSP00000360151:A239D	ENSP00000339826:A417D	A	-	2	0	PIK3AP1	98395345	0.137000	0.22531	0.004000	0.12327	0.275000	0.26752	2.701000	0.47094	0.025000	0.15241	-0.169000	0.13324	GCT		0.552	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		59	310	1	0	7.41606e-26	1	8.52628e-26	59	310					T	98405355	G	T	98405355	3	4	79	1	0	0	0	0	1	0	0	0	11950	971	34	3	1207	3	PIK3AP1	10	98405355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28937	98405355	37129392	11256	21573											
C10orf12	26148	broad.mit.edu	37	chr10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaccatatgcagagttcagCtttagtagaaagtctaatta	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(13-15)gCt>gAt		chromosome 10 open reading frame 12							69	67	68					10																	98741161		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741161C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.14C>A	10.37:g.98741161C>A	ENSP00000286067:p.Ala5Asp						p.A5D	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	121	+		Colorectal(252;0.172)	5					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.14C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008834	0.35415	.	.	ENSG00000155640	ENST00000286067	T	0.16196	2.36	5.85	5.85	0.93711	.	0.000000	0.44097	D	0.000497	T	0.29850	0.0746	L	0.34521	1.04	0.35268	D	0.780209	D	0.76494	0.999	D	0.68192	0.956	T	0.22521	-1.0214	10	0.72032	D	0.01	-5.4603	13.3765	0.60741	0.0:0.9282:0.0:0.0718	.	5	Q8N655	CJ012_HUMAN	D	5	ENSP00000286067:A5D	ENSP00000286067:A5D	A	+	2	0	C10orf12	98731151	0.993000	0.37304	0.994000	0.49952	0.065000	0.16274	2.805000	0.47939	2.775000	0.95449	0.591000	0.81541	GCT		0.393	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		35	255	1	0	3.62531e-18	1	4.01709e-18	35	255					A	98741161	C	A	98741161	3	1	79	1	0	0	0	0	1	0	0	0	1594	797	28	3	16	3	C10orf12	10	98741161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335806	98741161	36793586	11257	21574											
C10orf12	26148	broad.mit.edu	37	chr10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaagcagacccttacaaTtccagcccctagacatacag	5	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(712-714)aTt>aGt		chromosome 10 open reading frame 12							96	96	96					10																	98741860		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741860T>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.713T>G	10.37:g.98741860T>G	ENSP00000286067:p.Ile238Ser						p.I238S	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	820	+		Colorectal(252;0.172)	238					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.713T>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.512042	0.04200	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	6.05	1.03	0.20045	.	1.722310	0.03331	N	0.193415	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21708	0.022;0.036	T	0.36648	-0.9739	10	0.62326	D	0.03	0.665	5.4761	0.16695	0.0:0.2189:0.1337:0.6474	.	72;238	A0PJI9;Q8N655	.;CJ012_HUMAN	S	238;72	ENSP00000286067:I238S	ENSP00000286067:I238S	I	+	2	0	C10orf12	98731850	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.066000	0.12998	-0.274000	0.10170	ATT		0.493	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		95	403	0	0	0	1	0	95	403					G	98741860	T	G	98741860	3	3	79	1	0	0	0	0	1	0	0	0	1594	1493	52	4	715	4	C10orf12	10	98741860	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699	98741860	36792887	11258	21575											
C10orf12	26148	broad.mit.edu	37	chr10	98744054	98744054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgatgtcagccccggCcctaattctgaagacagcat	11	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2905-2907)ggC>ggT		chromosome 10 open reading frame 12							77	85	82					10																	98744054		2203	4298	6501	SO:0001819	synonymous_variant	26148							g.chr10:98744054C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2907C>T	10.37:g.98744054C>T							p.G969G	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3014	+		Colorectal(252;0.172)	969					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.2907C>T	CCDS7452.1																																																																																				0.483	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		112	531	0	0	0	1	0	112	531					T	98744054	C	T	98744054	2	4	79	1	0	0	0	0	0	0	0	1	1594	726	26	2		2	C10orf12	10	98744054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2194	98744054	36790693	11259	21576											
SLIT1	6585	broad.mit.edu	37	chr10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttcctccgcttcagcCgaaggccctggcagcagccc	10	17	1	1	rs369124797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCAGCCGAAGGCCCTG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17661	0.0		0.0	False		,,,				2504	0.0					ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4504-4506)cGg>cAg		slit homolog 1 (Drosophila)		C	GLN/ARG	0,4406		0,0,2203	71	77	75		4505	4.8	1	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT1	NM_003061.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1502/1535	98760969	1,13005	2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98760969C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4505G>A	10.37:g.98760969C>T	ENSP00000266058:p.Arg1502Gln					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	p.R1502Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4750	-		Colorectal(252;0.162)	1502			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4505G>A	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689858|4.689858	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|D	0.80824|0.82081	-1.42|-1.57	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Cystine knot, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90041|0.90041	0.6890|0.6890	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.89950|0.89950	0.4079|0.4079	7|10	0.87932|0.48119	D|T	0|0.1	.|.	18.0843|18.0843	0.89453|0.89453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502	.|O75093	.|SLIT1_HUMAN	S|Q	1461|1502	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	G|R	-|-	1|2	0|0	SLIT1|SLIT1	98750959|98750959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.809000|5.809000	0.69172|0.69172	2.498000|2.498000	0.84270|0.84270	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		158	693	0	0	0	1	0	158	693					T	98760969	C	T	98760969	3	4	79	1	0	0	0	0	1	0	0	0	14789	652	23	1	103	1	SLIT1	10	98760969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16915	98760969	36773778	11260	21577											
SLIT1	6585	broad.mit.edu	37	chr10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtacctgagcaccggaacTtcttgctcttgatctgcccg	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	484	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCGGAACTTCTTGCTCTT	0.652																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1450-1452)aAg>aCg		slit homolog 1 (Drosophila)							110	91	97					10																	98808726		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808726T>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1451A>C	10.37:g.98808726T>G	ENSP00000266058:p.Lys484Thr					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T	p.K484T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1696	-		Colorectal(252;0.162)	484			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1451A>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628289	0.87560	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81739	-1.53;-1.52;0.71	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.941;0.995	D	0.88106	0.2822	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	494;484	E7EWQ8;O75093	.;SLIT1_HUMAN	T	484;494;484;477	ENSP00000266058:K484T;ENSP00000360109:K484T;ENSP00000315005:K477T	ENSP00000266058:K484T	K	-	2	0	SLIT1	98798716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAG		0.652	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		112	517	0	0	0	1	0	112	517					G	98808726	T	G	98808726	3	3	79	1	0	0	0	0	1	0	0	0	14789	1609	56	4	3249	4	SLIT1	10	98808726	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47757	98808726	36726021	11261	21578											
SLIT1	6585	broad.mit.edu	37	chr10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgttgtcatacagggAgagcagtgagaggttctgca	14	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	411					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATACAGGGAGAGCAGTGAG	0.582																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1231-1233)Tcc>Ccc		slit homolog 1 (Drosophila)							169	166	167					10																	98816148		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816148A>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1231T>C	10.37:g.98816148A>G	ENSP00000266058:p.Ser411Pro					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P	p.S411P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	13	1476	-		Colorectal(252;0.162)	411					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1231T>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	a	28.3	4.904775	0.92035	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.54279	1.76;1.76;0.58	5.09	5.09	0.68999	.	0.057785	0.64402	D	0.000001	T	0.76615	0.4012	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82024	-0.0662	10	0.87932	D	0	.	15.0201	0.71624	1.0:0.0:0.0:0.0	.	421;411	E7EWQ8;O75093	.;SLIT1_HUMAN	P	411;421;411;404	ENSP00000266058:S411P;ENSP00000360109:S411P;ENSP00000315005:S404P	ENSP00000266058:S411P	S	-	1	0	SLIT1	98806138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.129000	0.65627	0.454000	0.30748	TCC		0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		127	637	0	0	0	1	0	127	637					G	98816148	A	G	98816148	3	3	79	1	0	0	0	0	1	0	0	0	14789	304	11	4	3473	4	SLIT1	10	98816148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	98816148	36718599	11262	21579											
SLIT1	6585	broad.mit.edu	37	chr10	98823297	98823297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcactgggtgaagagcccGatggttggccgctgcctcag	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371070.4_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(706-708)atC>atT		slit homolog 1 (Drosophila)							23	24	24					10																	98823297		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98823297G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.708C>T	10.37:g.98823297G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I	p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	8	953	-		Colorectal(252;0.162)	236			LRRCT 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.708C>T	CCDS7453.1																																																																																				0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		31	119	0	0	0	1	0	31	119					A	98823297	G	A	98823297	2	1	79	1	0	0	0	0	0	0	0	1	14789	1048	37	1		1	SLIT1	10	98823297	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7149	98823297	36711450	11263	21580											
ARHGAP19	84986	broad.mit.edu	37	chr10	98989630	98989630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatttcccaggaccttcCgctgatttaagaacagaaaa	7	10	1	4	rs368334954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	ENST00000358531.4	-	10	1314	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	429					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAGGACCTTCCGCTGATTTAA	0.383																																						ENST00000453547.2																			0											c.e10-1				C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94	95	95		1199,1286	4.6	1	10		95	1,8599		0,1,4299	no	missense-near-splice,missense-near-splice	ARHGAP19	NM_001204300.1,NM_032900.5	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/466,429/495	98989630	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr10:98989630C>T	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1285-1G>A	10.37:g.98989630C>T						ARHGAP19_ENST00000355366.5_Splice_Site_p.R420_splice|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400_splice|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420_splice|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429_splice|ARHGAP19_ENST00000358531.4_Splice_Site_p.R429_splice	p.R429_splice							10	1285	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	SNP	ENST00000358531.4	37	c.1284_splice	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592825	0.86953	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.16897	2.65;2.69;2.72;2.69;2.72;2.31	5.46	4.55	0.56014	.	0.000000	0.64402	U	0.000001	T	0.30696	0.0773	M	0.64997	1.995	0.43857	D	0.996459	D;D;D	0.76494	0.994;0.995;0.999	P;P;P	0.57152	0.653;0.56;0.814	T	0.03514	-1.1029	10	0.72032	D	0.01	-1.2313	9.9455	0.41607	0.0:0.9063:0.0:0.0937	.	400;429;420	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	429;429;420;429;420;248;400	ENSP00000414774:R429Q;ENSP00000324468:R429Q;ENSP00000347526:R420Q;ENSP00000351333:R429Q;ENSP00000360066:R420Q;ENSP00000351058:R400Q	ENSP00000324468:R429Q	R	-	2	0	ARHGAP19	98979620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.373000	0.44266	1.288000	0.44600	0.655000	0.94253	CGG		0.383	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	Missense_Mutation	82	393	0	0	0	1	0	82	393					T	98989630	C	T	98989630	5	4	79	1	0	0	0	0	0	0	1	0	869	666	23	1	210	1	ARHGAP19	10	98989630	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166333	98989630	36545117	11264	21581											
PGAM1	5223	broad.mit.edu	37	chr10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttattgcttaggatcGcaggtatgcagacctcacag	9	9	2	1	rs138208659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0					ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(418-420)cGc>cAc		phosphoglycerate mutase 1 (brain)							104	104	104					10																	99190716		2203	4300	6503	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99190716G>A	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"Phosphoglycerate mutase A, nonmuscle form"	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.419G>A	10.37:g.99190716G>A	ENSP00000359991:p.Arg140His					PGAM1_ENST00000467867.1_3'UTR	p.R140H	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	3	567	+		Colorectal(252;0.162)	140					Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.419G>A	CCDS7458.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.44	2.535006	0.45073	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80214	-1.35	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.78637	2.42	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.003	T	0.80476	-0.1366	10	0.62326	D	0.03	-0.6606	18.928	0.92553	0.0:0.0:1.0:0.0	.	125;140	B4DKL5;P18669	.;PGAM1_HUMAN	H	140;30	ENSP00000359991:R140H	ENSP00000359991:R140H	R	+	2	0	PGAM1	99180706	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	9.622000	0.98378	2.549000	0.85964	0.561000	0.74099	CGC		0.428	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		51	264	0	0	0	1	0	51	264					A	99190716	G	A	99190716	3	1	79	1	0	0	0	0	1	0	0	0	11815	1087	38	1	429	1	PGAM1	10	99190716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201086	99190716	36344031	11265	21582											
MMS19	64210	broad.mit.edu	37	chr10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccaccagaagattacGgggatccttttccccatcca	9	13	0	2	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000483626.1_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	188					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		19717	0.0		0.0	False		,,,				2504	0.001					ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(562-564)Cgt>Tgt	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	100	105		562	5.6	1	10	dbSNP_134	105	0,8600		0,0,4300	no	missense	MMS19	NM_022362.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/1031	99236652	1,13005	2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99236652G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.562C>T	10.37:g.99236652G>A	ENSP00000412698:p.Arg188Cys					MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C	p.R188C	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	7	897	-		Colorectal(252;0.0846)	188					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.562C>T	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430733	0.96150	2.27E-4	0.0	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75777	-0.3198	10	0.87932	D	0	.	19.4839	0.95022	0.0:0.0:1.0:0.0	.	188;188	Q96T76-5;Q96T76	.;MMS19_HUMAN	C	188;188;188;167;188;227	ENSP00000412698:R188C;ENSP00000359818:R188C;ENSP00000320059:R188C;ENSP00000409425:R188C;ENSP00000391765:R227C	ENSP00000320059:R188C	R	-	1	0	MMS19	99226642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.423000	0.73361	2.611000	0.88343	0.650000	0.86243	CGT		0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			57	244	0	0	0	1	0	57	244					A	99236652	G	A	99236652	3	1	79	1	0	0	0	0	1	0	0	0	9713	1116	39	1	2630	1	MMS19	10	99236652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45936	99236652	36298095	11266	21583											
UBTD1	80019	broad.mit.edu	37	chr10	99327681	99327681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccaggacgcaatgaGcccctgaagaaagagcggct	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(79-81)gaG>gaA		ubiquitin domain containing 1							60	47	51					10																	99327681		2203	4300	6503	SO:0001819	synonymous_variant	80019							g.chr10:99327681G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.81G>A	10.37:g.99327681G>A							p.E27E	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	2	417	+		Colorectal(252;0.162)	27					D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	37	c.81G>A	CCDS7465.1																																																																																				0.617	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		61	266	0	0	0	1	0	61	266					A	99327681	G	A	99327681	2	1	79	1	0	0	0	0	0	0	0	1	16961	962	34	2		2	UBTD1	10	99327681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91029	99327681	36207066	11267	21584											
UBTD1	80019	broad.mit.edu	37	chr10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgctcacagaccgcAcacggctccaggagaccaag	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	202	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(604-606)Aca>Gca		ubiquitin domain containing 1							47	45	46					10																	99330200		2203	4300	6503	SO:0001583	missense	80019							g.chr10:99330200A>G	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.604A>G	10.37:g.99330200A>G	ENSP00000359698:p.Thr202Ala						p.T202A	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	940	+		Colorectal(252;0.162)	202			Ubiquitin-like.		D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	c.604A>G	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692848	0.30052	.	.	ENSG00000165886	ENST00000370664	T	0.74421	-0.84	5.73	5.73	0.89815	Ubiquitin supergroup (1);Ubiquitin (2);	0.143055	0.64402	D	0.000006	T	0.70456	0.3226	L	0.42245	1.32	0.38786	D	0.954884	P	0.44986	0.847	P	0.46510	0.519	T	0.68262	-0.5455	10	0.08381	T	0.77	-5.7565	16.0082	0.80377	1.0:0.0:0.0:0.0	.	202	Q9HAC8	UBTD1_HUMAN	A	202	ENSP00000359698:T202A	ENSP00000359698:T202A	T	+	1	0	UBTD1	99320190	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	7.576000	0.82467	2.324000	0.78689	0.533000	0.62120	ACA		0.627	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		69	310	0	0	0	1	0	69	310					G	99330200	A	G	99330200	3	3	79	1	0	0	0	0	1	0	0	0	16961	159	6	4	614	4	UBTD1	10	99330200	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2519	99330200	36204547	11268	21585											
DHDPSL	112817	broad.mit.edu	37	chr10	99358558	99358558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccagggctccaatggcGagtttcctttcctgaccagc	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99358558G>A	ENST00000370646.4	+	2	599	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	80					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTCCAATGGCGAGTTTCCTTT	0.582																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(238-240)Gag>Aag		4-hydroxy-2-oxoglutarate aldolase 1							181	160	167					10																	99358558		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99358558G>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.238G>A	10.37:g.99358558G>A	ENSP00000359680:p.Glu80Lys					PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	p.E80K	NM_138413.3	NP_612422.2					2	599	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.238G>A	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552144	0.96501	.	.	ENSG00000241935	ENST00000370646	D	0.99089	-5.41	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97905	1.0305	10	0.87932	D	0	-27.9215	18.2395	0.89961	0.0:0.0:1.0:0.0	.	80	Q86XE5	HOGA1_HUMAN	K	80	ENSP00000359680:E80K	ENSP00000359680:E80K	E	+	1	0	HOGA1	99348548	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.209000	0.95087	2.299000	0.77371	0.655000	0.94253	GAG		0.582	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		126	509	0	0	0	1	0	126	509					A	99358558	G	A	99358558	3	1	79	1	0	0	0	0	1	0	0	0	4496	1059	37	1	244	1	DHDPSL	10	99358558	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28358	99358558	36176189	11269	21586											
PI4K2A	55361	broad.mit.edu	37	chr10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatatttctgttcacagatCgaggcaatgacaactggctg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(925-927)Cga>Tga		phosphatidylinositol 4-kinase type 2 alpha							141	131	134					10																	99422666		2203	4300	6503	SO:0001587	stop_gained	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99422666C>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.925C>T	10.37:g.99422666C>T	ENSP00000359665:p.Arg309*					PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*	p.R309*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	5	982	+		Colorectal(252;0.162)	309			PI3K/PI4K.		D3DR59|Q9NSG8	Nonsense_Mutation	SNP	ENST00000370631.3	37	c.925C>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	39	7.404835	0.98262	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8168	13.9095	0.63857	0.2602:0.7398:0.0:0.0	.	.	.	.	X	279;309;279	.	ENSP00000359665:R309X	R	+	1	2	PI4K2A;RP11-548K23.11	99412656	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.043000	0.30316	2.700000	0.92200	0.655000	0.94253	CGA		0.388	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		66	337	0	0	0	1	0	66	337					T	99422666	C	T	99422666	4	4	79	1	0	0	0	0	0	1	0	0	11913	876	31	1	943	1	PI4K2A	10	99422666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64108	99422666	36112081	11270	21587											
PI4K2A	55361	broad.mit.edu	37	chr10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgacccaggccttgaaAgacaacaagagtcccctgca	8	13	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N|PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	435	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1303-1305)aaA>aaC		phosphatidylinositol 4-kinase type 2 alpha							105	98	101					10																	99433364		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99433364A>C	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1305A>C	10.37:g.99433364A>C	ENSP00000359665:p.Lys435Asn					PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N|PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N	p.K435N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	9	1362	+		Colorectal(252;0.162)	435			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1305A>C	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196353	0.58126	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.23	2.91	0.33838	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.111374	0.64402	D	0.000011	D	0.83691	0.5309	M	0.76838	2.35	0.51012	D	0.999903	P;P;B	0.50617	0.937;0.937;0.169	P;P;B	0.59221	0.854;0.854;0.178	T	0.82438	-0.0457	10	0.72032	D	0.01	-8.1753	7.9555	0.30040	0.7768:0.0:0.2232:0.0	.	405;405;435	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	N	405;435;405	ENSP00000452243:K405N;ENSP00000359665:K435N;ENSP00000359683:K405N	ENSP00000359665:K435N	K	+	3	2	PI4K2A;RP11-548K23.11	99423354	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	0.455000	0.26910	0.533000	0.62120	AAA		0.542	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		124	467	0	0	0	1	0	124	467					C	99433364	A	C	99433364	3	2	79	1	0	0	0	0	1	0	0	0	11913	69	3	4	1339	4	PI4K2A	10	99433364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10698	99433364	36101383	11271	21588											
GOLGA7B	401647	broad.mit.edu	37	chr10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcgaggcctcctacttacaGaccctgtggagcgtgggatg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	123						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(367-369)Gac>Tac		golgin A7 family, member B							93	79	84					10																	99624000		2203	4300	6503	SO:0001583	missense	401647					Golgi membrane		g.chr10:99624000G>T	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.367G>T	10.37:g.99624000G>T	ENSP00000359634:p.Asp123Tyr						p.D123Y	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			4	432	+			123					Q5T4F5	Missense_Mutation	SNP	ENST00000370602.1	37	c.367G>T	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363960	0.61513	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	5.31	0.75309	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85953	0.1465	9	0.72032	D	0.01	-58.8523	17.9131	0.88940	0.0:0.0:1.0:0.0	.	123	Q2TAP0	GOG7B_HUMAN	Y	123	.	ENSP00000359634:D123Y	D	+	1	0	GOLGA7B	99613990	1.000000	0.71417	0.950000	0.38849	0.038000	0.13279	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAC		0.527	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		16	241	1	0	1.52009e-12	1	1.63397e-12	16	241					T	99624000	G	T	99624000	3	4	79	1	0	0	0	0	1	0	0	0	6591	942	33	3	381	3	GOLGA7B	10	99624000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190636	99624000	35910747	11272	21589											
CRTAC1	55118	broad.mit.edu	37	chr10	99667810	99667810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggtgccatcgccccgGttgtggaaaaggaagttagg	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000370591.2_Silent_p.N270N|CRTAC1_ENST00000298819.4_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	270						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGCCCCGGTTGTGGAAAA	0.627																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(808-810)aaC>aaT		cartilage acidic protein 1							87	67	74					10																	99667810		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99667810G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.810C>T	10.37:g.99667810G>A						CRTAC1_ENST00000298819.4_Silent_p.N270N|CRTAC1_ENST00000370591.2_Silent_p.N270N	p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1165	-		Colorectal(252;0.24)	270					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.810C>T	CCDS31266.1																																																																																				0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		14	243	0	0	0	1	0	14	243					A	99667810	G	A	99667810	2	1	79	1	0	0	0	0	0	0	0	1	3905	1252	44	2		2	CRTAC1	10	99667810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43810	99667810	35866937	11273	21590											
LOXL4	84171	broad.mit.edu	37	chr10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctgtgcctgagcagCgcaccccactcatcaccacc	7	20	3	1	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1486-1488)cGc>cAc		lysyl oxidase-like 4		C	HIS/ARG	0,4406		0,0,2203	69	65	67		1487	2.4	1	10	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL4	NM_032211.6	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	496/757	100015438	1,13005	2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100015438C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1487G>A	10.37:g.100015438C>T	ENSP00000260702:p.Arg496His					RP11-34A14.3_ENST00000433374.1_RNA	p.R496H	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	10	1637	-		Colorectal(252;0.234)	496			SRCR 4.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1487G>A	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023928	0.54683	0.0	1.16E-4	ENSG00000138131	ENST00000260702	T	0.36699	1.24	5.25	2.36	0.29203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191629	0.56097	N	0.000024	T	0.24928	0.0605	L	0.35487	1.065	0.38850	D	0.956265	B	0.12630	0.006	B	0.14023	0.01	T	0.07252	-1.0782	10	0.27785	T	0.31	.	9.7114	0.40247	0.0:0.7701:0.0:0.2299	.	496	Q96JB6	LOXL4_HUMAN	H	496	ENSP00000260702:R496H	ENSP00000260702:R496H	R	-	2	0	LOXL4	100005428	0.938000	0.31826	0.998000	0.56505	0.994000	0.84299	0.146000	0.16180	0.211000	0.20683	0.561000	0.74099	CGC		0.662	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		36	417	0	0	0	1	0	36	417					T	100015438	C	T	100015438	3	4	79	1	0	0	0	0	1	0	0	0	8940	768	27	1	807	1	LOXL4	10	100015438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347628	100015438	35519309	11274	21591											
LOXL4	84171	broad.mit.edu	37	chr10	100021971	100021971	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtccagccagatgggtcCtgtggagtggaggtgatgct	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.e3-1		lysyl oxidase-like 4							56	52	53					10																	100021971		2203	4300	6503	SO:0001630	splice_region_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100021971C>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.278-1G>T	10.37:g.100021971C>A								NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	3	428	-		Colorectal(252;0.234)						Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Splice_Site	SNP	ENST00000260702.3	37		CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203068	0.79127	.	.	ENSG00000138131	ENST00000260702	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL4	100011961	1.000000	0.71417	0.932000	0.37286	0.868000	0.49771	7.598000	0.82745	2.157000	0.67596	0.561000	0.74099	.		0.572	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211	Intron	38	154	1	0	9.8876e-21	1	1.10988e-20	38	154					A	100021971	C	A	100021971	5	1	79	1	0	0	0	0	0	0	1	0	8940	695	24	3	2045	3	LOXL4	10	100021971	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6533	100021971	35512776	11275	21592											
PYROXD2	84795	broad.mit.edu	37	chr10	100152291	100152291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaactccttgaacacaGccttcactgttcacctgcac	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	320							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(958-960)ggC>ggT		pyridine nucleotide-disulphide oxidoreductase domain 2							234	158	184					10																	100152291		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152291G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.960C>T	10.37:g.100152291G>A						PYROXD2_ENST00000483923.1_5'UTR	p.G320G	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			10	1008	-			320					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.960C>T	CCDS7474.1																																																																																				0.532	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		59	346	0	0	0	1	0	59	346					A	100152291	G	A	100152291	2	1	79	1	0	0	0	0	0	0	0	1	12917	958	34	2		2	PYROXD2	10	100152291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130320	100152291	35382456	11276	21593											
HPS1	3257	broad.mit.edu	37	chr10	100177447	100177447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacctgacagcctcGgttgggcggttcttgctgta	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Silent_p.T659T|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667									Hermansky-Pudlak syndrome																													ENST00000325103.6																			1	Substitution - coding silent(1)	p.T659T(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1975-1977)acC>acT		Hermansky-Pudlak syndrome 1							72	65	67					10																	100177447		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177447G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1977C>T	10.37:g.100177447G>A						HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	p.T659T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2210	-		Colorectal(252;0.234)	659					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1977C>T	CCDS7475.1																																																																																				0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		48	217	0	0	0	1	0	48	217					A	100177447	G	A	100177447	2	1	79	1	0	0	0	0	0	0	0	1	7369	1103	39	1		1	HPS1	10	100177447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	100177447	35357300	11277	21594											
HPS1	3257	broad.mit.edu	37	chr10	100178003	100178003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcacctcgatcatctgGagtttgtacccctgaggagg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000361490.4_Silent_p.L623L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	623					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1867-1869)ctC>ctT		Hermansky-Pudlak syndrome 1							115	94	101					10																	100178003		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100178003G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1869C>T	10.37:g.100178003G>A						HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L623L	p.L623L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	19	2102	-		Colorectal(252;0.234)	623					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1869C>T	CCDS7475.1																																																																																				0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		16	379	0	0	0	1	0	16	379					A	100178003	G	A	100178003	2	1	79	1	0	0	0	0	0	0	0	1	7369	1161	41	2		2	HPS1	10	100178003	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	100178003	35356744	11278	21595											
HPSE2	60495	broad.mit.edu	37	chr10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactcagggcactagaaCtgttccaggagttattggga	12	8	1	2	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	238					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCACTAGAACTGTTCCAGGA	0.423																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(712-714)aGt>aAt		heparanase 2		C	,,ASN/SER,ASN/SER	0,4406		0,0,2203	135	128	131		,,713,713	5.7	1	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	,,46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,possibly-damaging,possibly-damaging	,,238/549,238/593	100503711	1,13005	2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100503711C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.713G>A	10.37:g.100503711C>T	ENSP00000359583:p.Ser238Asn					HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron	p.S238N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	4	772	-			238					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.713G>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314871	0.60524	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050078	0.85682	D	0.000000	T	0.32102	0.0818	L	0.38175	1.15	0.80722	D	1	P;P	0.37914	0.557;0.611	B;B	0.40165	0.215;0.321	T	0.01715	-1.1289	10	0.35671	T	0.21	-10.7404	20.1554	0.98111	0.0:1.0:0.0:0.0	.	238;238	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	N	238	ENSP00000359583:S238N;ENSP00000359577:S238N	ENSP00000359577:S238N	S	-	2	0	HPSE2	100493701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.838000	0.97847	0.591000	0.81541	AGT		0.423	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		103	441	0	0	0	1	0	103	441					T	100503711	C	T	100503711	3	4	79	1	0	0	0	0	1	0	0	0	7375	565	20	2	1139	2	HPSE2	10	100503711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325708	100503711	35031036	11279	21596											
CNNM1	26507	broad.mit.edu	37	chr10	101090473	101090473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactgcttcatgctgcgCtcagacgcggtgctcgactt	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000446890.1_Silent_p.R372R|CNNM1_ENST00000370528.3_Silent_p.R372R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	443	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCATGCTGCGCTCAGACGCGG	0.612																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1327-1329)cgC>cgT		cyclin M1							79	66	71					10																	101090473		2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090473C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1329C>T	10.37:g.101090473C>T						CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000446890.1_Silent_p.R372R	p.R443R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1618	+		Colorectal(252;0.234)	443			CBS 1.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.1329C>T	CCDS7478.2																																																																																				0.612	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		51	237	0	0	0	1	0	51	237					T	101090473	C	T	101090473	2	4	79	1	0	0	0	0	0	0	0	1	3621	784	28	2		2	CNNM1	10	101090473	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586762	101090473	34444274	11280	21597											
CNNM1	26507	broad.mit.edu	37	chr10	101136957	101136957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcagtccacatcctcagCgatgtgcagtttgtgaaggt	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000370528.3_Silent_p.S703S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	774					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACATCCTCAGCGATGTGCAGT	0.562																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2320-2322)agC>agT		cyclin M1							135	99	111					10																	101136957		2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101136957C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2322C>T	10.37:g.101136957C>T						CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000446890.1_Silent_p.S703S	p.S774S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	7	2611	+		Colorectal(252;0.234)	774					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.2322C>T	CCDS7478.2																																																																																				0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		20	102	0	0	0	1	0	20	102					T	101136957	C	T	101136957	2	4	79	1	0	0	0	0	0	0	0	1	3621	767	27	1		1	CNNM1	10	101136957	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46484	101136957	34397790	11281	21598											
CNNM1	26507	broad.mit.edu	37	chr10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaactccaatttaacaCctctgatcacatgacagggc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	948					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAATTTAACACCTCTGATCAC	0.488																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2842-2844)Cct>Tct		cyclin M1							89	81	83					10																	101151259		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101151259C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2842C>T	10.37:g.101151259C>T	ENSP00000349147:p.Pro948Ser					CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S	p.P948S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	11	3131	+		Colorectal(252;0.234)	948					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2842C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654267	0.47467	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	.	0.077331	0.53938	D	0.000056	T	0.64907	0.2641	N	0.19112	0.55	0.41761	D	0.989712	B;B;B	0.29862	0.084;0.094;0.259	B;B;B	0.25759	0.028;0.045;0.063	T	0.65639	-0.6119	10	0.52906	T	0.07	-11.6285	14.2188	0.65812	0.0:0.9288:0.0:0.0712	.	604;898;948	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	948;877;827;604;401	ENSP00000349147:P948S;ENSP00000406492:P877S;ENSP00000359559:P827S;ENSP00000359565:P604S	ENSP00000349147:P948S	P	+	1	0	CNNM1	101141249	0.869000	0.29996	0.771000	0.31576	0.978000	0.69477	3.935000	0.56560	2.734000	0.93682	0.555000	0.69702	CCT		0.488	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		17	128	0	0	0	1	0	17	128					T	101151259	C	T	101151259	3	4	79	1	0	0	0	0	1	0	0	0	3621	507	18	2	2884	2	CNNM1	10	101151259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14302	101151259	34383488	11282	21599											
GOT1	2805	broad.mit.edu	37	chr10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattggcagatactcgtgatTtaggctattgtcattagcaa	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TACTCGTGATTTAGGCTATTG	0.522																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(202-204)Aat>Cat		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						164	155	158					10																	101180479		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101180479T>G	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.202A>C	10.37:g.101180479T>G	ENSP00000359539:p.Asn68His					GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	p.N68H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	2	229	-		Ovarian(717;0.028)|Colorectal(252;0.234)	68					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.202A>C	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239518	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.85299	2.745	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.45971	0.499;0.499	D	0.93775	0.7078	10	0.87932	D	0	6.6169	15.3757	0.74602	0.0:0.0:0.0:1.0	.	68;68	Q2TU84;P17174	.;AATC_HUMAN	H	68;47	ENSP00000359539:N68H;ENSP00000445578:N47H	ENSP00000359539:N68H	N	-	1	0	GOT1	101170469	1.000000	0.71417	0.920000	0.36463	0.027000	0.11550	7.533000	0.81994	2.326000	0.78906	0.533000	0.62120	AAT		0.522	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		101	428	0	0	0	1	0	101	428					G	101180479	T	G	101180479	3	3	79	1	0	0	0	0	1	0	0	0	6608	1841	64	4	1071	4	GOT1	10	101180479	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29220	101180479	34354268	11283	21600											
GOT1	2805	broad.mit.edu	37	chr10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggggtccggatcctccCtgaagtcggcagtgagcttg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_5'Flank|RP11-441O15.3_ENST00000416191.2_lincRNA	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	26					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CGGATCCTCCCTGAAGTCGGC	0.602																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(76-78)aGg>aTg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109	106	107					10																	101190246		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101190246C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.77G>T	10.37:g.101190246C>A	ENSP00000359539:p.Arg26Met					GOT1_ENST00000471741.1_5'UTR	p.R26M	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	1	104	-		Ovarian(717;0.028)|Colorectal(252;0.234)	26					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.77G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585378	0.66105	.	.	ENSG00000120053	ENST00000370508;ENST00000535447	T	0.23348	1.91	5.77	5.77	0.91146	Pyridoxal phosphate-dependent transferase, major domain (1);	0.107962	0.64402	D	0.000006	T	0.35364	0.0929	M	0.75615	2.305	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.87932	D	0	-4.1193	19.133	0.93415	0.0:1.0:0.0:0.0	.	26;26	Q2TU84;P17174	.;AATC_HUMAN	M	26	ENSP00000359539:R26M	ENSP00000359539:R26M	R	-	2	0	GOT1	101180236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.885000	0.99019	0.655000	0.94253	AGG		0.602	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		133	610	1	0	5.753e-54	1	7.17579e-54	133	610					A	101190246	C	A	101190246	3	1	79	1	0	0	0	0	1	0	0	0	6608	681	24	3	1200	3	GOT1	10	101190246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	101190246	34344501	11284	21601											
SLC25A28	81894	broad.mit.edu	37	chr10	101370678	101370678	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcatacacagaccatgcGatggctgtggaggggatctg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	341					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(1021-1023)atC>atT		solute carrier family 25 (mitochondrial iron transporter), member 28							114	111	112					10																	101370678		1936	4127	6063	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101370678G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.1023C>T	10.37:g.101370678G>A							p.I341I	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	1051	-		Colorectal(252;0.234)	341					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.1023C>T	CCDS41559.1																																																																																				0.512	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		48	415	0	0	0	1	0	48	415					A	101370678	G	A	101370678	2	1	79	1	0	0	0	0	0	0	0	1	14541	1048	37	1		1	SLC25A28	10	101370678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180432	101370678	34164069	11285	21602											
ENTPD7	57089	broad.mit.edu	37	chr10	101439486	101439486	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgttttaacttaaggaatCtctgcaatggcagacactcc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101439486C>T	ENST00000370489.4	+	5	580	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	134						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTAAGGAATCTCTGCAATGG	0.443																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(400-402)atC>atT		ectonucleoside triphosphate diphosphohydrolase 7							119	111	114					10																	101439486		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101439486C>T	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.402C>T	10.37:g.101439486C>T							p.I134I	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	5	580	+		Colorectal(252;0.234)	134					B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.402C>T	CCDS7480.1																																																																																				0.443	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		11	671	0	0	0	1	0	11	671					T	101439486	C	T	101439486	2	4	79	1	0	0	0	0	0	0	0	1	5162	903	32	2		2	ENTPD7	10	101439486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68808	101439486	34095261	11286	21603											
COX15	1355	broad.mit.edu	37	chr10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattcctcttggcttgtaGgtggcttcatctcctttatt	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000016171.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.P111L			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	111					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTGGCTTGTAGGTGGCTTCAT	0.403																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(331-333)cCt>cTt		cytochrome c oxidase assembly homolog 15 (yeast)							189	188	188					10																	101487261		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101487261G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.332C>T	10.37:g.101487261G>A	ENSP00000016171:p.Pro111Leu					COX15_ENST00000016171.5_Missense_Mutation_p.P111L|CUTC_ENST00000493385.1_Intron	p.P111L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	3	382	-		Colorectal(252;0.234)	111					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.332C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316166	0.81469	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.87809	-2.3;-2.3	4.49	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96657	0.9486	10	0.87932	D	0	-7.3348	13.0498	0.58948	0.0787:0.0:0.9213:0.0	.	111;111	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	111	ENSP00000359514:P111L;ENSP00000016171:P111L	ENSP00000016171:P111L	P	-	2	0	COX15	101477251	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.217000	0.77982	1.259000	0.44117	0.563000	0.77884	CCT		0.403	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		20	473	0	0	0	1	0	20	473					A	101487261	G	A	101487261	3	1	79	1	0	0	0	0	1	0	0	0	3773	1000	35	2	998	2	COX15	10	101487261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47775	101487261	34047486	11287	21604											
ABCC2	1244	broad.mit.edu	37	chr10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A													cctaggaagatgttgaaaagINSaaaaaaaagaagtctgggac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(883-885)aaafs	p.K295fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	295					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTTGAAAAGAAAAAAAAGAA	0.441																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.K294N(1)	breast(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(880-885)aaaaaafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558978_101558979insA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.890dupA	10.37:g.101558986_101558986dupA	ENSP00000359478:p.Lys295fs						p.KK294fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	995_996	+		Colorectal(252;0.234)	294					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Ins	INS	ENST00000370449.4	37	c.882_883insA	CCDS7484.1																																																																																				0.441	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	1015						7	1015	---	---	---	---	A	101558979	-	A	101558978	7	5	79	1	0	1	1	0	0	0	0	0	53	933	33	0	912	0	ABCC2	10	101558978	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	71717	101558978	33975769	11288	21605											
ABCC2	1244	broad.mit.edu	37	chr10	101560322	101560322	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgtatataagaaggTaagcagaatacggcaggtat	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2						cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TATAAGAAGGTAAGCAGAATA	0.408																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.e9+2		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						136	120	125					10																	101560322		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560322T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1209+2T>C	10.37:g.101560322T>C								NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1322	+		Colorectal(252;0.234)						B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37		CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671329	0.88348	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.133	0.81458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101550312	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.021000	0.88750	2.212000	0.71576	0.459000	0.35465	.		0.408	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Intron	93	413	0	0	0	1	0	93	413					C	101560322	T	C	101560322	5	2	79	1	0	0	0	0	0	0	1	0	53	1652	57	4	1245	4	ABCC2	10	101560322	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1344	101560322	33974425	11289	21606											
ABCC2	1244	broad.mit.edu	37	chr10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacattatggcaggccaActtgtggctgtgataggccc	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	665	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGCAGGCCAACTTGTGGCTG	0.493																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1993-1995)caA>caC		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						92	91	91					10																	101572802		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101572802A>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1995A>C	10.37:g.101572802A>C	ENSP00000359478:p.Gln665His						p.Q665H	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	16	2108	+		Colorectal(252;0.234)	665			ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1995A>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813457	0.32053	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.79	-11.6	0.00059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.582342	0.18986	N	0.125740	D	0.86066	0.5844	M	0.64676	1.99	0.22880	N	0.998617	B	0.06786	0.001	B	0.06405	0.002	T	0.65380	-0.6182	10	0.66056	D	0.02	-0.0442	4.9829	0.14175	0.5568:0.1589:0.1597:0.1246	.	665	Q92887	MRP2_HUMAN	H	665	ENSP00000359478:Q665H	ENSP00000359478:Q665H	Q	+	3	2	ABCC2	101562792	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-4.119000	0.00291	-2.567000	0.00470	-0.924000	0.02725	CAA		0.493	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		15	430	0	0	0	1	0	15	430					C	101572802	A	C	101572802	3	2	79	1	0	0	0	0	1	0	0	0	53	40	2	4	2057	4	ABCC2	10	101572802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12480	101572802	33961945	11290	21607											
ABCC2	1244	broad.mit.edu	37	chr10	101604222	101604222	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatcggtagcatggagaaGgtaggtggagtgaaggaagg	19	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCATGGAGAAGGTAGGTGGAG	0.517																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.e28+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						128	114	119					10																	101604222		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101604222G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3987+1G>T	10.37:g.101604222G>T							p.K1329_splice	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	28	4100	+		Colorectal(252;0.234)	1329			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37	c.3987_splice	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714854	0.89112	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.64	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96924	0.9676	10	0.87932	D	0	-0.1001	14.5275	0.67900	0.0701:0.0:0.9299:0.0	.	1329	Q92887	MRP2_HUMAN	N	1329	ENSP00000359478:K1329N	ENSP00000359478:K1329N	K	+	3	2	ABCC2	101594212	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.543000	0.73874	1.398000	0.46701	0.655000	0.94253	AAG		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Missense_Mutation	88	386	1	0	1.0532e-45	1	1.29204e-45	88	386					T	101604222	G	T	101604222	5	4	79	1	0	0	0	0	0	0	1	0	53	1014	35	3	4097	3	ABCC2	10	101604222	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31420	101604222	33930525	11291	21608											
DNMBP	23268	broad.mit.edu	37	chr10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcattcagggcctcataGttgttccgggccgactgcag	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000324109.4	-	13	3559	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K|DNMBP_ENST00000472036.1_5'UTR	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1156	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGCCTCATAGTTGTTCCGGG	0.552																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3538-3540)aaC>aaA		dynamin binding protein							123	121	122					10																	101646207		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101646207G>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3468C>A	10.37:g.101646207G>T	ENSP00000315659:p.Asn1156Lys					DNMBP_ENST00000324109.4_Missense_Mutation_p.N1156K|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000472036.1_5'UTR	p.N1180K			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	13	3631	-		Colorectal(252;0.234)	1156			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3540C>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620443	0.66787	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.82	3.96	0.45880	BAR (3);	0.000000	0.52532	D	0.000062	T	0.68256	0.2981	L	0.59436	1.845	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.963;0.994	T	0.62685	-0.6802	10	0.13108	T	0.6	-33.0653	13.1438	0.59450	0.1969:0.0:0.8031:0.0	.	1156;402;1180	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1180;1156;402;402;92	ENSP00000344914:N1180K;ENSP00000315659:N1156K;ENSP00000443657:N402K;ENSP00000443573:N92K	ENSP00000315659:N1156K	N	-	3	2	DNMBP	101636197	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.481000	0.53179	0.393000	0.25203	-1.134000	0.01955	AAC		0.552	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		121	531	1	0	7.99423e-63	1	1.00802e-62	121	531					T	101646207	G	T	101646207	3	4	79	1	0	0	0	0	1	0	0	0	4690	1020	36	3	1285	3	DNMBP	10	101646207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41985	101646207	33888540	11292	21609											
DNMBP	23268	broad.mit.edu	37	chr10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagacaggtctcggataaAagacttaatcaatctttctt	8	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000324109.4	-	11	3209	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1040	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTCGGATAAAAGACTTAATC	0.368																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3190-3192)Ttt>Ctt		dynamin binding protein							155	133	140					10																	101654741		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101654741A>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3118T>C	10.37:g.101654741A>G	ENSP00000315659:p.Phe1040Leu					DNMBP_ENST00000324109.4_Missense_Mutation_p.F1040L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000540316.1_5'UTR	p.F1064L			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	11	3281	-		Colorectal(252;0.234)	1040			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3190T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785164	0.70222	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000104	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.999	D;P;D	0.87578	0.998;0.849;0.998	T	0.48163	-0.9059	10	0.33141	T	0.24	-20.926	15.7668	0.78131	1.0:0.0:0.0:0.0	.	1040;286;1064	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1064;1040;286;286	ENSP00000344914:F1064L;ENSP00000315659:F1040L;ENSP00000443657:F286L	ENSP00000315659:F1040L	F	-	1	0	DNMBP	101644731	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.184000	0.94893	2.201000	0.70794	0.528000	0.53228	TTT		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		27	149	0	0	0	1	0	27	149					G	101654741	A	G	101654741	3	3	79	1	0	0	0	0	1	0	0	0	4690	14	1	4	1643	4	DNMBP	10	101654741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8534	101654741	33880006	11293	21610											
DNMBP	23268	broad.mit.edu	37	chr10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcgcaatggcctcaTcatgattctggcagtaaatc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000324109.4	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	874	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATGGCCTCATCATGATTCTG	0.443																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(2620-2622)gAt>gGt		dynamin binding protein							179	158	165					10																	101659757		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101659757T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2621A>G	10.37:g.101659757T>C	ENSP00000315659:p.Asp874Gly					DNMBP_ENST00000324109.4_Missense_Mutation_p.D874G|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G	p.D874G			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	7	2712	-		Colorectal(252;0.234)	874			DH.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2621A>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862457	0.91511	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000133	T	0.77922	0.4203	M	0.71871	2.18	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.998	D;P;D	0.72338	0.977;0.861;0.977	T	0.79890	-0.1612	10	0.59425	D	0.04	-24.5908	15.8535	0.78956	0.0:0.0:0.0:1.0	.	874;120;874	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	G	874;874;120;120;162;162	ENSP00000344914:D874G;ENSP00000315659:D874G;ENSP00000443657:D120G;ENSP00000409476:D162G	ENSP00000315659:D874G	D	-	2	0	DNMBP	101649747	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.929000	0.87595	2.207000	0.71202	0.459000	0.35465	GAT		0.443	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		94	523	0	0	0	1	0	94	523					C	101659757	T	C	101659757	3	2	79	1	0	0	0	0	1	0	0	0	4690	1435	50	4	2156	4	DNMBP	10	101659757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5016	101659757	33874990	11294	21611											
CPN1	1369	broad.mit.edu	37	chr10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagctcgcggcccaacGcttcgttgccgtgcatgttc	11	15	1	0	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	90	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCGGCCCAACGCTTCGTTGCC	0.557																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(268-270)gCg>gTg		carboxypeptidase N, polypeptide 1			VAL/ALA	0,4406		0,0,2203	118	99	106		269	0.7	1	10	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPN1	NM_001308.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	90/459	101835819	1,13005	2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835819G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.269C>T	10.37:g.101835819G>A	ENSP00000359446:p.Ala90Val						p.A90V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	520	-		Colorectal(252;0.234)	90			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.269C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894347	0.02491	0.0	1.16E-4	ENSG00000120054	ENST00000370418	T	0.09723	2.95	5.59	0.741	0.18336	Peptidase M14, carboxypeptidase A (4);	0.221527	0.46145	N	0.000303	T	0.02012	0.0063	N	0.00392	-1.555	0.27509	N	0.951746	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.02654	T	1	-42.9443	9.0393	0.36307	0.7156:0.0:0.2844:0.0	.	90	P15169	CBPN_HUMAN	V	90	ENSP00000359446:A90V	ENSP00000359446:A90V	A	-	2	0	CPN1	101825809	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	1.868000	0.39509	-0.101000	0.12219	-0.302000	0.09304	GCG		0.557	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		95	375	0	0	0	1	0	95	375					A	101835819	G	A	101835819	3	1	79	1	0	0	0	0	1	0	0	0	3818	1087	38	1	1139	1	CPN1	10	101835819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176062	101835819	33698928	11295	21612											
ERLIN1	10613	broad.mit.edu	37	chr10	101912014	101912014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcacatgaggagtccacGaacatgttagggatgttgct	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	305					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458																																						ENST00000421367.2																			0											c.(919-921)ttC>ttT		ER lipid raft associated 1							120	116	117					10																	101912014		2203	4300	6503	SO:0001819	synonymous_variant	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101912014G>A	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.921C>T	10.37:g.101912014G>A						ERLIN1_ENST00000407654.3_Silent_p.F307F	p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3628	-		Colorectal(252;0.234)	305					B0QZ42|Q53HV0	Silent	SNP	ENST00000421367.2	37	c.921C>T	CCDS7487.2																																																																																				0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		90	313	0	0	0	1	0	90	313					A	101912014	G	A	101912014	2	1	79	1	0	0	0	0	0	0	0	1	5250	1049	37	1		1	ERLIN1	10	101912014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76195	101912014	33622733	11296	21613											
CHUK	1147	broad.mit.edu	37	chr10	101964413	101964413	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatatctaagaagacttaAcctaaaccacagcaagaaaa	4	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	453					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGACTTAACCTAAACCAC	0.299																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.e13-1		conserved helix-loop-helix ubiquitous kinase							78	73	75					10																	101964413		2202	4300	6502	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101964413A>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1356-1T>C	10.37:g.101964413A>G							p.L453_splice	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	13	1443	-		Colorectal(252;0.117)	453					O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.1355_splice	CCDS7488.1																																																																																				0.299	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Silent	41	158	0	0	0	1	0	41	158					G	101964413	A	G	101964413	5	3	79	1	0	0	0	0	0	0	1	0	3425	57	2	4	916	4	CHUK	10	101964413	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52399	101964413	33570334	11297	21614											
PKD2L1	9033	broad.mit.edu	37	chr10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgaagaagaggttgacaGcattcatgttgttgtactgt	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	443					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGGTTGACAGCATTCATGTT	0.493																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1327-1329)gCt>gAt		polycystic kidney disease 2-like 1							180	133	149					10																	102055907		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102055907G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1328C>A	10.37:g.102055907G>T	ENSP00000325296:p.Ala443Asp					PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	p.A443D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1710	-		Colorectal(252;0.117)	443					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1328C>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271172	0.95429	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80304	-1.36;-1.36;-1.36	5.8	5.8	0.92144	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93266	0.6647	10	0.87932	D	0	-8.7781	19.0419	0.93004	0.0:0.0:1.0:0.0	.	396;443	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	368;443;443;441	ENSP00000345068:A368D;ENSP00000266049:A443D;ENSP00000325296:A443D	ENSP00000325296:A443D	A	-	2	0	PKD2L1	102045897	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.799000	0.99117	2.758000	0.94735	0.561000	0.74099	GCT		0.493	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		58	309	1	0	5.47352e-35	1	6.52624e-35	58	309					T	102055907	G	T	102055907	3	4	79	1	0	0	0	0	1	0	0	0	12009	971	34	3	1129	3	PKD2L1	10	102055907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91494	102055907	33478840	11298	21615											
PKD2L1	9033	broad.mit.edu	37	chr10	102056007	102056007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccatgagccgattcacctCgagggttcggaatatgtgga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102056007C>T	ENST00000318222.3	-	7	1610	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	410					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGATTCACCTCGAGGGTTCGG	0.542																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1228-1230)Gag>Aag		polycystic kidney disease 2-like 1							84	74	77					10																	102056007		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056007C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1228G>A	10.37:g.102056007C>T	ENSP00000325296:p.Glu410Lys					PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K	p.E410K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1610	-		Colorectal(252;0.117)	410					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1228G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458255	0.43634	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69926	-0.44;-0.44;-0.44	5.8	4.9	0.64082	Polycystin cation channel, PKD1/PKD2 (1);	0.096556	0.64402	N	0.000001	T	0.47637	0.1456	N	0.12443	0.215	0.36847	D	0.887713	B;B	0.28208	0.203;0.111	B;B	0.26416	0.069;0.061	T	0.51252	-0.8729	10	0.23891	T	0.37	-15.2324	13.8093	0.63252	0.0:0.9273:0.0:0.0727	.	363;410	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	335;410;410;408	ENSP00000345068:E335K;ENSP00000266049:E410K;ENSP00000325296:E410K	ENSP00000325296:E410K	E	-	1	0	PKD2L1	102045997	1.000000	0.71417	0.927000	0.36925	0.958000	0.62258	4.533000	0.60615	1.476000	0.48215	0.561000	0.74099	GAG		0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		46	195	0	0	0	1	0	46	195					T	102056007	C	T	102056007	3	4	79	1	0	0	0	0	1	0	0	0	12009	893	31	1	1229	1	PKD2L1	10	102056007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	102056007	33478740	11299	21616											
SCD	6319	broad.mit.edu	37	chr10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgatcctcataattccCgacgtggctttttcttctct	6	12	3	1	rs200497654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	174					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20668	0.001		0.0	False		,,,				2504	0.0				Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(520-522)Cga>Tga		stearoyl-CoA desaturase (delta-9-desaturase)							110	105	107					10																	102114262		2203	4300	6503	SO:0001587	stop_gained	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102114262C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.520C>T	10.37:g.102114262C>T	ENSP00000359380:p.Arg174*						p.R174*	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	4	901	+		Colorectal(252;0.0323)	174					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Nonsense_Mutation	SNP	ENST00000370355.2	37	c.520C>T	CCDS7493.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.367420	0.98238	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	.	.	.	5.39	3.46	0.39613	.	0.267034	0.25236	N	0.032132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.626	9.3816	0.38318	0.4808:0.4005:0.1187:0.0	.	.	.	.	X	174	.	ENSP00000359380:R174X	R	+	1	2	SCD	102104252	0.037000	0.19845	0.995000	0.50966	0.869000	0.49853	0.575000	0.23729	0.590000	0.29694	0.563000	0.77884	CGA		0.507	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		87	518	0	0	0	1	0	87	518					T	102114262	C	T	102114262	4	4	79	1	0	0	0	0	0	1	0	0	13936	644	23	1	534	1	SCD	10	102114262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58255	102114262	33420485	11300	21617											
SEC31B	25956	broad.mit.edu	37	chr10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtgccacttgctctgGcacctgcagtggtgggagag	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	365					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTGCTCTGGCACCTGCAGT	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1093-1095)Cca>Tca		SEC31 homolog B (S. cerevisiae)							149	156	154					10																	102265204		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265204G>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1093C>T	10.37:g.102265204G>A	ENSP00000359370:p.Pro365Ser					SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1190	-		Colorectal(252;0.117)	365					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1093C>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117907	0.77323	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.57907	0.62;0.37	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.79805	2.47	0.80722	D	1	P;P	0.38800	0.648;0.517	B;B	0.43658	0.426;0.191	T	0.67608	-0.5627	10	0.56958	D	0.05	-12.2986	19.0888	0.93217	0.0:0.0:1.0:0.0	.	364;365	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	365	ENSP00000359370:P365S;ENSP00000391178:P365S	ENSP00000359370:P365S	P	-	1	0	SEC31B	102255194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.386000	0.59620	2.757000	0.94681	0.561000	0.74099	CCA		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		176	646	0	0	0	1	0	176	646					A	102265204	G	A	102265204	3	1	79	1	0	0	0	0	1	0	0	0	14049	1203	42	2	2514	2	SEC31B	10	102265204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150942	102265204	33269543	11301	21618											
NDUFB8	4714	broad.mit.edu	37	chr10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtacacgtcccccacccaGcacatgaatatcatgaaagc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000299166.4	-	4	444	c.432C>A	c.(430-432)tgC>tgA	p.C144*	NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	144					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		CCCCCACCCAGCACATGAATA	0.527																																						ENST00000531258.1																			0				endometrium(2)|lung(2)	4						c.(430-432)tgC>tgA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	NADH(DB00157)						113	91	98					10																	102286192		2203	4300	6503	SO:0001587	stop_gained	4714				mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr10:102286192G>T	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"Mitochondrial respiratory chain complex / Complex I"	7703	protein-coding gene	gene with protein product	"complex I ASHI subunit"	602140	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.432C>A	10.37:g.102286192G>T	ENSP00000299166:p.Cys144*					SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000299166.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*	p.C144*			O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	4	461	-		Colorectal(252;0.234)	144					A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Nonsense_Mutation	SNP	ENST00000299166.4	37	c.432C>A	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587017	0.46110	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	3.76	0.43208	.	0.048843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.9895	7.8746	0.29586	0.3275:0.0:0.6725:0.0	.	.	.	.	X	144;144;113;144	.	ENSP00000299166:C144X	C	-	3	2	NDUFB8	102276182	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.419000	0.44671	0.674000	0.31244	0.555000	0.69702	TGC		0.527	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		43	174	1	0	7.05121e-23	1	7.99584e-23	43	174					T	102286192	G	T	102286192	4	4	79	1	0	0	0	0	0	1	0	0	10329	963	34	3	136	3	NDUFB8	10	102286192	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20988	102286192	33248555	11302	21619											
PAX2	5076	broad.mit.edu	37	chr10	102509502	102509502	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcttgtctctccccaGcagggcacgggggtgtgaac	12	11	2	1	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000428433.1	+	2	593		c.e2-1		PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000370296.2_Splice_Site|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Splice_Site	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCTCTCCCCAGCAGGGCACGG	0.672																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.e2-1		paired box 2							28	32	31					10																	102509502		2197	4284	6481	SO:0001630	splice_region_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509502G>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.44-1G>A	10.37:g.102509502G>A						PAX2_ENST00000355243.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000428433.1_Splice_Site|PAX2_ENST00000553492.1_Intron				Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	593	+		Colorectal(252;0.234)						Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Splice_Site	SNP	ENST00000428433.1	37		CCDS53569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787798|3.787798	0.70337|0.70337	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000427256|ENST00000554172	.|D	.|0.97906	.|-4.6	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97952	.|0.9326	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97814	.|1.0252	.|5	.|.	.|.	.|.	.|.	15.4423|15.4423	0.75195|0.75195	0.0659:0.0:0.9341:0.0|0.0659:0.0:0.9341:0.0	.|.	.|.	.|.	.|.	.|T	-1|19	.|ENSP00000452489:A19T	.|.	.|A	+|+	.|1	.|0	PAX2|PAX2	102499492|102499492	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	.|GCA		0.672	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron	70	287	0	0	0	1	0	70	287					A	102509502	G	A	102509502	5	1	79	1	0	0	0	0	0	0	1	0	11521	985	34	2	49	2	PAX2	10	102509502	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223310	102509502	33025245	11303	21620											
PAX2	5076	broad.mit.edu	37	chr10	102509561	102509561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacggccggcccctaccCgacgtggtgaggcagcgcat	15	14	0	2	rs201381234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509561C>T	ENST00000428433.1	+	2	652	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000370296.2_Silent_p.P34P|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Silent_p.P33P|PAX2_ENST00000355243.3_Silent_p.P34P	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	34	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGCCCCTACCCGACGTGGTGA	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15680	0.0		0.0	False		,,,				2504	0.0					ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(100-102)ccC>ccT		paired box 2							29	34	32					10																	102509561		2197	4296	6493	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509561C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.102C>T	10.37:g.102509561C>T						PAX2_ENST00000355243.3_Silent_p.P34P|PAX2_ENST00000556085.1_Silent_p.P33P|PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000428433.1_Silent_p.P34P|PAX2_ENST00000553492.1_Intron	p.P34P			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	652	+		Colorectal(252;0.234)	34			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.102C>T	CCDS53569.1																																																																																				0.647	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				64	304	0	0	0	1	0	64	304					T	102509561	C	T	102509561	2	4	79	1	0	0	0	0	0	0	0	1	11521	639	23	1		1	PAX2	10	102509561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	102509561	33025186	11304	21621											
PAX2	5076	broad.mit.edu	37	chr10	102584662	102584662	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctctctccttagaggCtgcagttggtccctcatcct	7	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102584662C>T	ENST00000428433.1	+	9	1640				PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|PAX2_ENST00000370296.2_Missense_Mutation_p.A365V|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCTTAGAGGCTGCAGTTGGT	0.587																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1093-1095)gCt>gTt		paired box 2							140	126	131					10																	102584662		2203	4300	6503	SO:0001627	intron_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102584662C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1090+156C>T	10.37:g.102584662C>T						PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|PAX2_ENST00000428433.1_Intron	p.A365V			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	10	1644	+		Colorectal(252;0.234)	169					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.1094C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719917	0.68844	.	.	ENSG00000075891	ENST00000370296;ENST00000361791	T;T	0.32515	1.45;1.45	4.0	3.07	0.35406	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.54889	0.763	T	0.10965	-1.0607	8	0.15066	T	0.55	.	9.7996	0.40755	0.0:0.7889:0.2111:0.0	.	342	Q02962-4	.	V	365;342	ENSP00000359319:A365V;ENSP00000355069:A342V	ENSP00000355069:A342V	A	+	2	0	PAX2	102574652	0.857000	0.29778	0.106000	0.21319	0.988000	0.76386	0.321000	0.19558	0.758000	0.33059	0.561000	0.74099	GCT		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				78	348	0	0	0	1	0	78	348					T	102584662	C	T	102584662	1	4	79	0	1	0	0	0	0	0	0	0	11521	797	28	2		2	PAX2	10	102584662	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75101	102584662	32950085	11305	21622											
FAM178A	55719	broad.mit.edu	37	chr10	102684141	102684141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttcagaaaaataaaacCgctagctccacgacaaagga	6	11	1	1	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	461						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAATAAAACCGCTAGCTCCA	0.413																																						ENST00000238961.3																			0											c.(1381-1383)acC>acT		family with sequence similarity 178, member A							80	92	88					10																	102684141		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:102684141C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1383C>T	10.37:g.102684141C>T						FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1531	+			461					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.1383C>T	CCDS7500.1																																																																																				0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			136	605	0	0	0	1	0	136	605					T	102684141	C	T	102684141	2	4	79	1	0	0	0	0	0	0	0	1	5524	639	23	1		1	FAM178A	10	102684141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99479	102684141	32850606	11306	21623											
FAM178A	55719	broad.mit.edu	37	chr10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttttattggacaaagtgCtgtagaaaaacttattctta	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	771						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGACAAAGTGCTGTAGAAAAA	0.279																																						ENST00000238961.3																			0											c.(2311-2313)gCt>gAt		family with sequence similarity 178, member A							40	45	43					10																	102689733		2189	4279	6468	SO:0001583	missense	0							g.chr10:102689733C>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2312C>A	10.37:g.102689733C>A	ENSP00000238961:p.Ala771Asp					FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			8	2460	+			771					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2312C>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031971	0.75504	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	.	0.219124	0.40728	N	0.001031	T	0.39036	0.1063	N	0.22421	0.69	0.38401	D	0.945651	D;D	0.62365	0.991;0.991	P;P	0.61874	0.895;0.895	T	0.10590	-1.0623	10	0.26408	T	0.33	-14.4674	17.8977	0.88893	0.0:1.0:0.0:0.0	.	771;771	Q8IX21;B1AL17	F178A_HUMAN;.	D	771	ENSP00000238961:A771D;ENSP00000359292:A771D	ENSP00000238961:A771D	A	+	2	0	FAM178A	102679723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.804000	0.96469	0.655000	0.94253	GCT		0.279	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			37	215	1	0	1.90571e-15	1	2.08261e-15	37	215					A	102689733	C	A	102689733	3	1	79	1	0	0	0	0	1	0	0	0	5524	797	28	3	2342	3	FAM178A	10	102689733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5592	102689733	32845014	11307	21624											
SEMA4G	57715	broad.mit.edu	37	chr10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctagccattgccgcgCttggtggcctctgcctcatc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000370250.4	+	14	2423	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L689I|MRPL43_ENST00000299179.5_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	684					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2065-2067)Ctt>Att		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							60	56	57					10																	102743421		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743421C>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2050C>A	10.37:g.102743421C>A	ENSP00000359270:p.Leu684Ile					RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L684I|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron	p.L689I			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2143	+		Colorectal(252;0.234)	684					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2065C>A		.	.	.	.	.	.	.	.	.	.	c	16.98	3.272109	0.59649	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.24538	1.85;1.93	5.53	3.64	0.41730	.	1.042350	0.07500	N	0.907053	T	0.39036	0.1063	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.69654	0.965	T	0.06303	-1.0834	10	0.37606	T	0.19	.	11.3735	0.49713	0.0:0.8284:0.0:0.1716	.	689	Q9NTN9-2	.	I	684;689	ENSP00000359270:L684I;ENSP00000210633:L689I	ENSP00000210633:L689I	L	+	1	0	SEMA4G	102733411	0.601000	0.26907	0.942000	0.38095	0.932000	0.56968	1.208000	0.32345	2.613000	0.88420	0.550000	0.68814	CTT		0.652	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			18	114	1	0	1.56452e-12	1	1.68123e-12	18	114					A	102743421	C	A	102743421	3	1	79	1	0	0	0	0	1	0	0	0	14086	797	28	3	2119	3	SEMA4G	10	102743421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53688	102743421	32791326	11308	21625											
MRPL43	57715	broad.mit.edu	37	chr10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttctgaggcagagcaAcaatggagtaccagcagggc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000370250.4	+	14	2781	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N808S|MRPL43_ENST00000299179.5_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	803					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2422-2424)aAc>aGc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							75	76	76					10																	102743779		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743779A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2408A>G	10.37:g.102743779A>G	ENSP00000359270:p.Asn803Ser					RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N803S|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A	p.N808S			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2501	+		Colorectal(252;0.234)	803					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2423A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.08|14.08	2.427250|2.427250	0.43122|0.43122	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000370250;ENST00000210633|ENST00000370242;ENST00000342071	T;T|.	0.18016|.	2.24;2.32|.	5.34|5.34	4.21|4.21	0.49690|0.49690	.|.	1.345510|.	0.04794|.	U|.	0.432238|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.33117|0.33117	D|D	0.54126|0.54126	B|B;B	0.06786|0.17465	0.001|0.022;0.007	B|B;B	0.11329|0.17433	0.006|0.018;0.004	T|T	0.31308|0.31308	-0.9948|-0.9948	10|8	0.37606|0.87932	T|D	0.19|0	-23.4012|-23.4012	10.1788|10.1788	0.42955|0.42955	0.9216:0.0:0.0784:0.0|0.9216:0.0:0.0784:0.0	.|.	808|173;173	Q9NTN9-2|B1AL06;C9J5Q3	.|.;.	S|A	803;808|173	ENSP00000359270:N803S;ENSP00000210633:N808S|.	ENSP00000210633:N808S|ENSP00000339844:V173A	N|V	+|-	2|2	0|0	SEMA4G|MRPL43	102733769|102733769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.817000|5.817000	0.69229|0.69229	0.886000|0.886000	0.36113|0.36113	0.449000|0.449000	0.29647|0.29647	AAC|GTT		0.607	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			105	481	0	0	0	1	0	105	481					G	102743779	A	G	102743779	3	3	79	1	0	0	0	0	1	0	0	0	9848	43	2	4	353	4	MRPL43	10	102743779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	358	102743779	32790968	11309	21626											
C10orf2	56652	broad.mit.edu	37	chr10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtatcttgaagggacatCgaaagggcgagctgacggtc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000311916.2	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R406*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	406	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGGGACATCGAAAGGGCGA	0.527																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1216-1218)Cga>Tga		chromosome 10 open reading frame 2							65	68	67					10																	102749183		2203	4300	6503	SO:0001587	stop_gained	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749183C>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1216C>T	10.37:g.102749183C>T	ENSP00000309595:p.Arg406*					C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R406*	p.R406*	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1401	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	406			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	ENST00000311916.2	37	c.1216C>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536445	0.85812	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2613	19.1729	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000309595:R406X	R	+	1	2	C10orf2	102739173	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.853000	0.62911	2.873000	0.98535	0.563000	0.77884	CGA		0.527	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		73	323	0	0	0	1	0	73	323					T	102749183	C	T	102749183	4	4	79	1	0	0	0	0	0	1	0	0	1602	876	31	1	1218	1	C10orf2	10	102749183	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5404	102749183	32785564	11310	21627											
LZTS2	84445	broad.mit.edu	37	chr10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccggtcctcctccaGcaagagcacaggctccctag	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-837)aGc>aAc		leucine zipper, putative tumor suppressor 2							25	31	29					10																	102763691		2198	4295	6493	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763691G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.836G>A	10.37:g.102763691G>A	ENSP00000359240:p.Ser279Asn					LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N	p.S279N			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3899	+			279			Required for centrosomal localization (By similarity).|Ser-rich.			Missense_Mutation	SNP	ENST00000370220.1	37	c.836G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769278	0.69992	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.51071	0.72;0.72	5.01	4.09	0.47781	.	0.041017	0.85682	D	0.000000	T	0.30230	0.0758	N	0.20685	0.6	0.49915	D	0.999835	B	0.25904	0.137	B	0.21151	0.033	T	0.08452	-1.0721	9	.	.	.	-17.0117	12.8199	0.57688	0.0808:0.0:0.9192:0.0	.	279	Q9BRK4	LZTS2_HUMAN	N	279	ENSP00000359243:S279N;ENSP00000359240:S279N	.	S	+	2	0	LZTS2	102753681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.131000	0.64751	2.467000	0.83353	0.561000	0.74099	AGC		0.697	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		85	316	0	0	0	1	0	85	316					A	102763691	G	A	102763691	3	1	79	1	0	0	0	0	1	0	0	0	9178	971	34	2	842	2	LZTS2	10	102763691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14508	102763691	32771056	11311	21628											
LZTS2	84445	broad.mit.edu	37	chr10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgagagcgtgaggccCtgcgagaggactgtgcggcc	19	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1114-1116)Ctg>Atg		leucine zipper, putative tumor suppressor 2							20	24	22					10																	102765260		2197	4289	6486	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102765260C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1114C>A	10.37:g.102765260C>A	ENSP00000359240:p.Leu372Met					LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M	p.L372M			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	4177	+			372						Missense_Mutation	SNP	ENST00000370220.1	37	c.1114C>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152810	0.57259	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.53206	0.63;0.63	4.32	4.32	0.51571	.	0.173586	0.37809	N	0.001924	T	0.61565	0.2357	M	0.80508	2.5	0.39210	D	0.96329	D	0.54601	0.967	P	0.57548	0.823	T	0.68337	-0.5435	10	0.72032	D	0.01	0.7177	8.2205	0.31539	0.0:0.8148:0.0:0.1851	.	372	Q9BRK4	LZTS2_HUMAN	M	372	ENSP00000359243:L372M;ENSP00000359240:L372M	ENSP00000314437:L372M	L	+	1	2	LZTS2	102755250	0.068000	0.21057	0.996000	0.52242	0.885000	0.51271	0.948000	0.29096	1.960000	0.56953	0.561000	0.74099	CTG		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		60	238	1	0	1.80625e-27	1	2.09175e-27	60	238					A	102765260	C	A	102765260	3	1	79	1	0	0	0	0	1	0	0	0	9178	680	24	3	1124	3	LZTS2	10	102765260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1569	102765260	32769487	11312	21629											
LZTS2	84445	broad.mit.edu	37	chr10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcccaggagctgcagCgacaccgccaggaagctgag	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1543-1545)Cga>Tga		leucine zipper, putative tumor suppressor 2							10	13	12					10																	102766458		2190	4287	6477	SO:0001587	stop_gained	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766458C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1543C>T	10.37:g.102766458C>T	ENSP00000359240:p.Arg515*					LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*	p.R515*			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	4606	+			515			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Nonsense_Mutation	SNP	ENST00000370220.1	37	c.1543C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	57	28.821900	0.99974	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9984	14.1048	0.65080	0.151:0.849:0.0:0.0	.	.	.	.	X	515	.	ENSP00000314437:R515X	R	+	1	2	LZTS2	102756448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.653000	0.46691	2.677000	0.91161	0.561000	0.74099	CGA		0.701	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		24	95	0	0	0	1	0	24	95					T	102766458	C	T	102766458	4	4	79	1	0	0	0	0	0	1	0	0	9178	760	27	1	1557	1	LZTS2	10	102766458	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1198	102766458	32768289	11313	21630											
LZTS2	84445	broad.mit.edu	37	chr10	102766922	102766922	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagatcactgctactgagatCtagggccctcagcaaccagc	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2005-2007)atC>atA		leucine zipper, putative tumor suppressor 2							14	17	16					10																	102766922		2091	4088	6179	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766922C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.2007C>A	10.37:g.102766922C>A						LZTS2_ENST00000370223.3_Silent_p.I669I	p.I669I			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	5070	+			669			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Silent	SNP	ENST00000370220.1	37	c.2007C>A	CCDS7507.1																																																																																				0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		10	98	1	0	6.40141e-05	1	6.5221e-05	10	98					A	102766922	C	A	102766922	2	1	79	1	0	0	0	0	0	0	0	1	9178	903	32	3		3	LZTS2	10	102766922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	102766922	32767825	11314	21631											
PDZD7	79955	broad.mit.edu	37	chr10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagaagaggttcatcaGcgtcttggagcgctgcaggg	15	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	467						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1399-1401)Ctg>Atg		PDZ domain containing 7							66	65	65					10																	102777979		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102777979G>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1399C>A	10.37:g.102777979G>T	ENSP00000359234:p.Leu467Met						p.L467M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	9	1624	-			467					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.1399C>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908545	0.72868	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	4.12	4.12	0.48240	.	0.953905	0.08577	N	0.925156	T	0.34135	0.0887	L	0.40543	1.245	0.28043	N	0.933661	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.24905	-1.0147	10	0.56958	D	0.05	.	14.3404	0.66622	0.0:0.0:1.0:0.0	.	467;467	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	467	ENSP00000359234:L467M	ENSP00000359234:L467M	L	-	1	2	PDZD7	102767969	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.358000	0.52284	2.117000	0.64856	0.555000	0.69702	CTG		0.652	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		80	387	1	0	8.6838e-40	1	1.05102e-39	80	387					T	102777979	G	T	102777979	3	4	79	1	0	0	0	0	1	0	0	0	11746	962	34	3	162	3	PDZD7	10	102777979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11057	102777979	32756768	11315	21632											
PDZD7	79955	broad.mit.edu	37	chr10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgctacccatggtggtgctCtccaggctcagcccattcac	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	142	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(424-426)gaG>gaT		PDZ domain containing 7							79	66	70					10																	102783309		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783309C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.426G>T	10.37:g.102783309C>A	ENSP00000359234:p.Glu142Asp					PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	651	-			142			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.426G>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391612	0.42410	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.30182	1.54	5.05	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25060	0.705	0.44890	D	0.997906	P;B	0.41947	0.766;0.096	P;B	0.50440	0.641;0.038	T	0.01352	-1.1377	10	0.36615	T	0.2	.	12.6631	0.56826	0.0:0.8225:0.0:0.1775	.	142;142	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	142	ENSP00000359234:E142D	ENSP00000359234:E142D	E	-	3	2	PDZD7	102773299	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	2.198000	0.42705	-0.039000	0.13602	-2.721000	0.00131	GAG		0.647	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		70	289	1	0	9.13743e-30	1	1.06933e-29	70	289					A	102783309	C	A	102783309	3	1	79	1	0	0	0	0	1	0	0	0	11746	912	32	3	1155	3	PDZD7	10	102783309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5330	102783309	32751438	11316	21633											
LBX1	10660	broad.mit.edu	37	chr10	102988278	102988278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacgctgacctccaGccccttaaacgtcttgctgg	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	ENST00000370193.2	-	1	1273	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	99					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTGACCTCCAGCCCCTTAAAC	0.721																																						ENST00000370193.2																			0				large_intestine(2)|lung(4)|ovary(1)	7						c.(295-297)Ctg>Atg		ladybird homeobox 1							7	6	7					10																	102988278		2157	4199	6356	SO:0001583	missense	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102988278G>T	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"Homeoboxes / ANTP class : NKL subclass"	16960	protein-coding gene	gene with protein product		604255	"ladybird homeobox homolog 1 (Drosophila)"			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.295C>A	10.37:g.102988278G>T	ENSP00000359212:p.Leu99Met						p.L99M	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	1	1273	-		Colorectal(252;0.234)	99					B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	37	c.295C>A	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522727	0.85600	.	.	ENSG00000138136	ENST00000370193	D	0.94376	-3.41	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.95996	0.8696	M	0.79475	2.455	0.58432	D	0.999997	D	0.71674	0.998	D	0.68765	0.96	D	0.94652	0.7840	10	0.24483	T	0.36	.	16.3882	0.83523	0.0:0.0:1.0:0.0	.	99	P52954	LBX1_HUMAN	M	99	ENSP00000359212:L99M	ENSP00000359212:L99M	L	-	1	2	LBX1	102978268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.411000	0.81874	0.561000	0.74099	CTG		0.721	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		4	12	1	0	2.0095e-06	1	2.07161e-06	4	12					T	102988278	G	T	102988278	3	4	79	1	0	0	0	0	1	0	0	0	8684	962	34	3	558	3	LBX1	10	102988278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204969	102988278	32546469	11317	21634											
BTRC	8945	broad.mit.edu	37	chr10	103285770	103285770	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccccctactgaaagCtcggggattggatcatattg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000393441.4_Splice_Site_p.A145D|BTRC_ENST00000408038.2_Splice_Site_p.A150D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTACTGAAAGCTCGGGGATTG	0.438																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.e6-1		beta-transducin repeat containing E3 ubiquitin protein ligase							85	68	74					10																	103285770		2203	4300	6503	SO:0001630	splice_region_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103285770C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.557-1C>A	10.37:g.103285770C>A						BTRC_ENST00000393441.4_Splice_Site_p.A145_splice|BTRC_ENST00000408038.2_Splice_Site_p.A150_splice	p.A186_splice	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	6	675	+		Colorectal(252;0.234)	186					B5MD49|Q5W141|Q5W142|Q9Y213	Splice_Site	SNP	ENST00000370187.3	37	c.556_splice	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967622	0.53507	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43757	1.38	0.80722	D	1	B;B;B	0.32350	0.336;0.28;0.366	B;B;B	0.34301	0.084;0.171;0.179	T	0.02156	-1.1204	9	.	.	.	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	160;150;186	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	D	186;145;150;168	ENSP00000359206:A186D;ENSP00000377088:A145D;ENSP00000385339:A150D;ENSP00000359202:A168D	.	A	+	2	0	BTRC	103275760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	GCT		0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	Missense_Mutation	27	116	1	0	4.7796e-09	1	5.01584e-09	27	116					A	103285770	C	A	103285770	5	1	79	1	0	0	0	0	0	0	1	0	1573	811	28	3	579	3	BTRC	10	103285770	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297492	103285770	32248977	11318	21635											
POLL	27343	broad.mit.edu	37	chr10	103339447	103339447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggcacaggcaaactcGctatagggcaccacgatgat	12	11	0	1	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000456836.2_Silent_p.S234S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Silent_p.S409S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	497	DNA binding.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1489-1491)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							79	79	79					10																	103339447		2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339447G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1491C>T	10.37:g.103339447G>A						POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000456836.2_Silent_p.S234S|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron	p.S497S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	9	1985	-		Colorectal(252;0.234)	497			DNA binding.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.1491C>T	CCDS7513.1																																																																																				0.607	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		56	576	0	0	0	1	0	56	576					A	103339447	G	A	103339447	2	1	79	1	0	0	0	0	0	0	0	1	12247	1078	38	1		1	POLL	10	103339447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53677	103339447	32195300	11319	21636											
POLL	27343	broad.mit.edu	37	chr10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcctggctgCggatgtcttccagacttcgg	15	10	2	1	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000463515.1_5'Flank|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.R276H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1090-1092)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	86	89		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103342623C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	10.37:g.103342623C>T	ENSP00000359181:p.Arg364His					POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron	p.R364H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	7	1585	-		Colorectal(252;0.234)	364					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1091G>A	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		97	336	0	0	0	1	0	97	336					T	103342623	C	T	103342623	3	4	79	1	0	0	0	0	1	0	0	0	12247	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3176	103342623	32192124	11320	21637											
POLL	27343	broad.mit.edu	37	chr10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcagctcaccttctgcttCttctccctcttccctcctag	5	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000436284.2_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000370147.1_5'Flank|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	36	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(106-108)Gaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							215	185	195					10																	103347012		2203	4300	6503	SO:0001587	stop_gained	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103347012C>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.106G>T	10.37:g.103347012C>A	ENSP00000359181:p.Glu36*					POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000370172.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron	p.E36*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	2	600	-		Colorectal(252;0.234)	36			BRCT.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	37	c.106G>T	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488665|2.488665	0.44249|0.44249	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000413344;ENST00000430045|ENST00000339310;ENST00000370158;ENST00000456836;ENST00000429502	.|T;T;T;T	.|0.42131	.|0.98;2.46;2.4;0.98	5.05|5.05	4.15|4.15	0.48705|0.48705	.|.	1.271560|.	0.05127|.	N|.	0.491771|.	.|T	.|0.31104	.|0.0786	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B;B	.|0.31413	.|0.057;0.18;0.322	.|B;B;B	.|0.28553	.|0.019;0.025;0.091	.|T	.|0.17440	.|-1.0369	.|8	0.12766|0.48119	T|T	0.61|0.1	-6.2789|-6.2789	9.1991|9.1991	0.37246|0.37246	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|17;17;19	.|Q5JQP4;B4DEF5;Q9BTN8	.|.;.;.	X|N	36|17;19;17;17	.|ENSP00000343102:K17N;ENSP00000359177:K19N;ENSP00000390810:K17N;ENSP00000406791:K17N	ENSP00000299206:E36X|ENSP00000343102:K17N	E|K	-|-	1|3	0|2	POLL|POLL	103337002|103337002	0.186000|0.186000	0.23225|0.23225	0.010000|0.010000	0.14722|0.14722	0.049000|0.049000	0.14656|0.14656	1.336000|1.336000	0.33850|0.33850	1.143000|1.143000	0.42306|0.42306	-0.253000|-0.253000	0.11424|0.11424	GAA|AAG		0.483	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		124	550	1	0	6.19368e-37	1	7.42852e-37	124	550					A	103347012	C	A	103347012	4	1	79	1	0	0	0	0	0	1	0	0	12247	922	32	3	1653	3	POLL	10	103347012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4389	103347012	32187735	11321	21638											
FBXW4	6468	broad.mit.edu	37	chr10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccttacctgagtaatgggCtgatagcaatggaccagact	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	253					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.S253>?(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468																																						ENST00000331272.7																			1	Complex(1)	p.S253>?(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(757-759)aGc>aTc		F-box and WD repeat domain containing 4							141	141	141					10																	103427655		2203	4300	6503	SO:0001583	missense	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103427655C>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.758G>T	10.37:g.103427655C>A	ENSP00000359149:p.Ser253Ile						p.S253I	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	5	1376	-		Colorectal(252;0.123)	253					Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	c.758G>T	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434945	0.83885	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.22945	1.93	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076593	0.85682	D	0.000000	T	0.46483	0.1395	M	0.74647	2.275	0.58432	D	0.999993	D	0.67145	0.996	P	0.59171	0.853	T	0.42413	-0.9453	10	0.72032	D	0.01	-20.1976	13.5087	0.61499	0.0:0.9286:0.0:0.0714	.	253	P57775	FBXW4_HUMAN	I	253;253;166;209	ENSP00000359149:S253I	ENSP00000359149:S253I	S	-	2	0	FBXW4	103417645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	AGC		0.468	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		121	547	1	0	2.02578e-71	1	2.57604e-71	121	547					A	103427655	C	A	103427655	3	1	79	1	0	0	0	0	1	0	0	0	5792	797	28	3	500	3	FBXW4	10	103427655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80643	103427655	32107092	11322	21639											
FGF8	2253	broad.mit.edu	37	chr10	103530353	103530353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaatctccgtgaagacGcagtccttgcctttgccgtt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103530353G>A	ENST00000344255.3	-	6	434	c.435C>T	c.(433-435)tgC>tgT	p.C145C	FGF8_ENST00000347978.2_Silent_p.C127C|FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.C116C			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	145					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCGTGAAGACGCAGTCCTTGC	0.632																																						ENST00000347978.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5						c.(379-381)tgC>tgT		fibroblast growth factor 8 (androgen-induced)							93	69	77					10																	103530353		2203	4300	6503	SO:0001819	synonymous_variant	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103530353G>A	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.435C>T	10.37:g.103530353G>A						FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.C116C|FGF8_ENST00000344255.3_Silent_p.C145C	p.C127C	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	550	-		Colorectal(252;0.122)	145					A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	37	c.381C>T	CCDS7517.1																																																																																				0.632	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		8	334	0	0	0	1	0	8	334					A	103530353	G	A	103530353	2	1	79	1	0	0	0	0	0	0	0	1	5883	1079	38	1		1	FGF8	10	103530353	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102698	103530353	32004394	11323	21640											
NPM3	10360	broad.mit.edu	37	chr10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggggaactcaccatgGgttggcaggacagcttgagg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(319-321)cCc>cTc		nucleophosmin/nucleoplasmin 3							135	119	124					10																	103542239		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542239G>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.320C>T	10.37:g.103542239G>A	ENSP00000359128:p.Pro107Leu					NPM3_ENST00000474993.1_5'UTR	p.P107L	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	342	-		Colorectal(252;0.122)	107					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.320C>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633242	0.87660	.	.	ENSG00000107833	ENST00000370110	T	0.53423	0.62	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.39245	1.2	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.47262	-0.9131	10	0.66056	D	0.02	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	L	107	ENSP00000359128:P107L	ENSP00000359128:P107L	P	-	2	0	NPM3	103532229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC		0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		15	71	0	0	0	1	0	15	71					A	103542239	G	A	103542239	3	1	79	1	0	0	0	0	1	0	0	0	10631	1232	43	2	228	2	NPM3	10	103542239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	103542239	31992508	11324	21641											
MGEA5	10724	broad.mit.edu	37	chr10	103559127	103559127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataaactgttgttactacGgttgtggcatttaaagaggg	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000357797.5_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	427					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1279-1281)acC>acT		meningioma expressed antigen 5 (hyaluronidase)							117	123	121					10																	103559127		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103559127G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1281C>T	10.37:g.103559127G>A						MGEA5_ENST00000357797.5_Silent_p.T374T|MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000370094.3_Silent_p.T427T	p.T427T	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1676	-		Colorectal(252;0.207)	427					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.1281C>T	CCDS7520.1																																																																																				0.453	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		151	642	0	0	0	1	0	151	642					A	103559127	G	A	103559127	2	1	79	1	0	0	0	0	0	0	0	1	9596	1103	39	1		1	MGEA5	10	103559127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16888	103559127	31975620	11325	21642											
MGEA5	10724	broad.mit.edu	37	chr10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacccacagtccttaaAtatggagactgagacacatt	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	233					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(697-699)taT>taG		meningioma expressed antigen 5 (hyaluronidase)							64	61	62					10																	103565854		2203	4300	6503	SO:0001587	stop_gained	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103565854A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.699T>G	10.37:g.103565854A>C	ENSP00000354850:p.Tyr233*					MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*	p.Y233*	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	6	1094	-		Colorectal(252;0.207)	233					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	c.699T>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	37	6.507353	0.97624	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.27	0.378	0.16204	.	0.130087	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5857	8.4558	0.32899	0.6723:0.0:0.3277:0.0	.	.	.	.	X	233	.	ENSP00000350445:Y233X	Y	-	3	2	MGEA5	103555844	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.082000	0.30803	-0.170000	0.10816	0.529000	0.55759	TAT		0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		54	177	0	0	0	1	0	54	177					C	103565854	A	C	103565854	4	2	79	1	0	0	0	0	0	1	0	0	9596	108	4	4	2095	4	MGEA5	10	103565854	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6727	103565854	31968893	11326	21643											
MGEA5	10724	broad.mit.edu	37	chr10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacatattatggtctaTatcatcaaaaagcaaagcaa	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	176					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(526-528)Ata>Gta		meningioma expressed antigen 5 (hyaluronidase)							139	145	143					10																	103567613		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103567613T>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.526A>G	10.37:g.103567613T>C	ENSP00000354850:p.Ile176Val					MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V	p.I176V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	5	921	-		Colorectal(252;0.207)	176					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.526A>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369227	0.82463	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.41758	1.1;1.03;1.13;0.99	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.70935	0.923;0.921;0.966;0.971	T	0.66618	-0.5878	10	0.87932	D	0	-19.0523	15.6177	0.76780	0.0:0.0:0.0:1.0	.	176;176;176;176	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	176;176;176;176;124	ENSP00000409973:I176V;ENSP00000354850:I176V;ENSP00000350445:I176V;ENSP00000359112:I176V	ENSP00000350445:I176V	I	-	1	0	MGEA5	103557603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.156000	0.67533	0.477000	0.44152	ATA		0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		144	626	0	0	0	1	0	144	626					C	103567613	T	C	103567613	3	2	79	1	0	0	0	0	1	0	0	0	9596	1406	49	4	2272	4	MGEA5	10	103567613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1759	103567613	31967134	11327	21644											
C10orf76	79591	broad.mit.edu	37	chr10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtaggagcaggactgAcaggggtcgtcaccaagccc	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	330						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(988-990)gTc>gCc		chromosome 10 open reading frame 76							127	136	133					10																	103766356		1967	4164	6131	SO:0001583	missense	79591					integral to membrane		g.chr10:103766356A>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.989T>C	10.37:g.103766356A>G	ENSP00000359050:p.Val330Ala						p.V330A	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	14	1108	-		Colorectal(252;0.123)	330					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.989T>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	4.934	0.173538	0.09391	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	3.4	0.38934	.	0.576877	0.19762	N	0.106659	T	0.13756	0.0333	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.08381	T	0.77	-7.7272	2.1276	0.03742	0.5865:0.1339:0.1506:0.129	.	330	Q5T2E6	CJ076_HUMAN	A	330	.	ENSP00000359050:V330A	V	-	2	0	C10orf76	103756346	0.292000	0.24362	1.000000	0.80357	0.935000	0.57460	1.817000	0.39002	1.020000	0.39573	0.533000	0.62120	GTC		0.483	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		103	443	0	0	0	1	0	103	443					G	103766356	A	G	103766356	3	3	79	1	0	0	0	0	1	0	0	0	1621	275	10	4	1132	4	C10orf76	10	103766356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198743	103766356	31768391	11328	21645											
C10orf76	79591	broad.mit.edu	37	chr10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaaagccaagaggaCgacagcatcatacccatgct	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	211						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(631-633)Gtc>Atc		chromosome 10 open reading frame 76							119	116	117					10																	103783272		1940	4149	6089	SO:0001583	missense	79591					integral to membrane		g.chr10:103783272C>T	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.631G>A	10.37:g.103783272C>T	ENSP00000359050:p.Val211Ile						p.V211I	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	8	750	-		Colorectal(252;0.123)	211					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.631G>A	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.34521	1.04	0.80722	D	1	B	0.33345	0.409	B	0.22753	0.041	T	0.39941	-0.9589	9	0.29301	T	0.29	-12.1907	18.8547	0.92247	0.0:1.0:0.0:0.0	.	211	Q5T2E6	CJ076_HUMAN	I	211	.	ENSP00000359050:V211I	V	-	1	0	C10orf76	103773262	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.480000	0.81109	2.526000	0.85167	0.467000	0.42956	GTC		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		64	326	0	0	0	1	0	64	326					T	103783272	C	T	103783272	3	4	79	1	0	0	0	0	1	0	0	0	1621	536	19	1	1514	1	C10orf76	10	103783272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16916	103783272	31751475	11329	21646											
LDB1	8861	broad.mit.edu	37	chr10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggagagctgatccaacatCtgggggtcttgggcctagag	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000425280.1	-	8	1005	c.663G>T	c.(661-663)caG>caT	p.Q221H	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.Q185H	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	221					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCCAACATCTGGGGGTCTT	0.532																																						ENST00000361198.5																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(553-555)caG>caT		LIM domain binding 1							95	98	97					10																	103869426		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103869426C>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.663G>T	10.37:g.103869426C>A	ENSP00000392466:p.Gln221His					LDB1_ENST00000425280.1_Missense_Mutation_p.Q221H	p.Q185H	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	8	1178	-		Colorectal(252;0.122)	221					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.555G>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318692	0.60524	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.991;0.993	D;P	0.78314	0.991;0.77	T	0.64241	-0.6454	9	0.51188	T	0.08	-21.565	10.9601	0.47381	0.0:0.8573:0.0:0.1427	.	221;185	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	185;221	.	ENSP00000354616:Q185H	Q	-	3	2	LDB1	103859416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.162000	0.42367	1.416000	0.47057	-0.448000	0.05591	CAG		0.532	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		50	271	1	0	3.19069e-20	1	3.57165e-20	50	271					A	103869426	C	A	103869426	3	1	79	1	0	0	0	0	1	0	0	0	8726	912	32	3	588	3	LDB1	10	103869426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86154	103869426	31665321	11330	21647											
PPRC1	23082	broad.mit.edu	37	chr10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcctagccttccagAgactcccacagggctggcag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	784	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2350-2352)gAg>gCg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							85	91	89					10																	103900616		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900616A>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2351A>C	10.37:g.103900616A>C	ENSP00000278070:p.Glu784Ala					PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A	p.E784A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2390	+		Colorectal(252;0.122)	784			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2351A>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869727	0.51588	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36520	1.34;1.25	5.41	4.21	0.49690	.	0.278437	0.31071	N	0.008315	T	0.44350	0.1289	L	0.34521	1.04	0.39246	D	0.963949	D;D;D	0.65815	0.991;0.995;0.991	P;D;P	0.64144	0.876;0.922;0.838	T	0.41752	-0.9491	10	0.46703	T	0.11	.	12.1932	0.54282	0.8725:0.0:0.0:0.1275	.	784;664;784	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	784	ENSP00000278070:E784A;ENSP00000399743:E784A	ENSP00000278070:E784A	E	+	2	0	PPRC1	103890606	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.134000	0.64770	2.184000	0.69523	0.459000	0.35465	GAG		0.567	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		115	426	0	0	0	1	0	115	426					C	103900616	A	C	103900616	3	2	79	1	0	0	0	0	1	0	0	0	12457	304	11	4	2369	4	PPRC1	10	103900616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	103900616	31634131	11331	21648											
PPRC1	23082	broad.mit.edu	37	chr10	103901019	103901019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgtttactcactatgcCcccttgccatcctggccttg	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	918	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2752-2754)gcC>gcT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							188	125	146					10																	103901019		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901019C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2754C>T	10.37:g.103901019C>T						PPRC1_ENST00000413464.2_Silent_p.A918A	p.A918A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2793	+		Colorectal(252;0.122)	918			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2754C>T	CCDS7529.1																																																																																				0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		79	379	0	0	0	1	0	79	379					T	103901019	C	T	103901019	2	4	79	1	0	0	0	0	0	0	0	1	12457	610	22	2		2	PPRC1	10	103901019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	103901019	31633728	11332	21649											
PPRC1	23082	broad.mit.edu	37	chr10	103908144	103908144	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtccagctgtagttcCtctggacgttctcgaagatg	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908144C>A	ENST00000278070.2	+	10	4455	c.4416C>A	c.(4414-4416)tcC>tcA	p.S1472S	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1472	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTGTAGTTCCTCTGGACGTT	0.527																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4414-4416)tcC>tcA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							175	120	139					10																	103908144		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908144C>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4416C>A	10.37:g.103908144C>A						PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Silent_p.S439S|PPRC1_ENST00000413464.2_Silent_p.S1208S	p.S1472S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4455	+		Colorectal(252;0.122)	1472			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4416C>A	CCDS7529.1																																																																																				0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		12	421	1	0	6.40141e-05	1	6.5221e-05	12	421					A	103908144	C	A	103908144	2	1	79	1	0	0	0	0	0	0	0	1	12457	668	24	3		3	PPRC1	10	103908144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7125	103908144	31626603	11333	21650											
PPRC1	23082	broad.mit.edu	37	chr10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacctggccgcatgactcGatcagagctgaaacagaggt	12	10	1	4	rs370946381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1556	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4666-4668)cGa>cAa		peroxisome proliferator-activated receptor gamma, coactivator-related 1		G	GLN/ARG	0,4406		0,0,2203	89	87	88		4667	5.7	1	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPRC1	NM_015062.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1556/1665	103908623	1,13005	2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908623G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4667G>A	10.37:g.103908623G>A	ENSP00000278070:p.Arg1556Gln					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q	p.R1556Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	12	4706	+		Colorectal(252;0.122)	1556			RRM.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4667G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291454	0.80914	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.15256	2.44;2.44;2.44	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055167	0.64402	D	0.000001	T	0.28532	0.0706	L	0.27053	0.805	0.28658	N	0.906283	D;D;P	0.64830	0.99;0.994;0.915	D;P;P	0.64595	0.927;0.737;0.48	T	0.03910	-1.0993	10	0.56958	D	0.05	.	16.1782	0.81884	0.0:0.1331:0.8669:0.0	.	1292;1434;1556	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1556;1292;523	ENSP00000278070:R1556Q;ENSP00000399743:R1292Q;ENSP00000359029:R523Q	ENSP00000278070:R1556Q	R	+	2	0	PPRC1	103898613	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.704000	0.92352	0.549000	0.68633	CGA		0.488	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		43	234	0	0	0	1	0	43	234					A	103908623	G	A	103908623	3	1	79	1	0	0	0	0	1	0	0	0	12457	1058	37	1	4713	1	PPRC1	10	103908623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	103908623	31626124	11334	21651											
NOLC1	9221	broad.mit.edu	37	chr10	103921395	103921395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagataaagcttcagaccccTaacacatttccaaaaaggaa	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000605788.1	+	11	2059	c.1824T>C	c.(1822-1824)ccT>ccC	p.P608P	NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000405356.1_Silent_p.P618P|NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000477977.1_3'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	608					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCAGACCCCTAACACATTTC	0.428																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(1852-1854)ccT>ccC		nucleolar and coiled-body phosphoprotein 1							40	36	37					10																	103921395		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921395T>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1824T>C	10.37:g.103921395T>C						NOLC1_ENST00000605788.1_Silent_p.P608P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000488254.2_Silent_p.P609P	p.P618P			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	11	2089	+		Colorectal(252;0.122)	608					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1854T>C	CCDS7530.1																																																																																				0.428	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		33	139	0	0	0	1	0	33	139					C	103921395	T	C	103921395	2	2	79	1	0	0	0	0	0	0	0	1	10571	1509	53	4		4	NOLC1	10	103921395	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12772	103921395	31613352	11335	21652											
ELOVL3	83401	broad.mit.edu	37	chr10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaagtaaatcagctgTtccagccctataacttcgag	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	15					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(43-45)Ttc>Ctc		ELOVL fatty acid elongase 3							118	98	105					10																	103986348		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103986348T>C	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.43T>C	10.37:g.103986348T>C	ENSP00000359022:p.Phe15Leu						p.F15L	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	1	264	+		Colorectal(252;0.207)	15					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.43T>C	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307660	0.10733	.	.	ENSG00000119915	ENST00000370005	T	0.20881	2.04	4.62	-1.08	0.09936	.	4.602870	0.00397	N	0.000058	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.06891	T	0.86	.	2.6472	0.04987	0.4086:0.2442:0.0:0.3472	.	15	Q9HB03	ELOV3_HUMAN	L	15	ENSP00000359022:F15L	ENSP00000359022:F15L	F	+	1	0	ELOVL3	103976338	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.262000	0.08682	-0.015000	0.14150	0.459000	0.35465	TTC		0.532	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		80	405	0	0	0	1	0	80	405					C	103986348	T	C	103986348	3	2	79	1	0	0	0	0	1	0	0	0	5093	1725	60	4	45	4	ELOVL3	10	103986348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64953	103986348	31548399	11336	21653											
PITX3	5309	broad.mit.edu	37	chr10	103991721	103991721	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagggggcgcgcttaccGctgtgctcctggcccttgca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	39					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	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)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCGCTTACCGCTGTGCTCCT	0.716																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.e2+1		paired-like homeodomain 3							16	20	18					10																	103991721		2193	4285	6478	SO:0001630	splice_region_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103991721G>A		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.118+1C>T	10.37:g.103991721G>A						PITX3_ENST00000539804.1_Splice_Site_p.S39_splice	p.S39_splice	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	270	-		Colorectal(252;0.00957)	39					Q5VZL2	Splice_Site	SNP	ENST00000370002.3	37	c.118_splice	CCDS7532.1																																																																																				0.716	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1		Silent	16	187	0	0	0	1	0	16	187					A	103991721	G	A	103991721	5	1	79	1	0	0	0	0	0	0	1	0	11998	1101	38	1	803	1	PITX3	10	103991721	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5373	103991721	31543026	11337	21654											
GBF1	8729	broad.mit.edu	37	chr10	104119161	104119161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattacgtcaatccccggggCgtgcgctttacacagtcctc	10	14	1	0	rs535374345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	382					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCCCCGGGGCGTGCGCTTTA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20277	0.0		0.0	False		,,,				2504	0.001					ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1144-1146)ggC>ggT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							142	108	119					10																	104119161		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119161C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1146C>T	10.37:g.104119161C>T						GBF1_ENST00000476019.1_3'UTR	p.G382G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	11	1406	+		Colorectal(252;0.0236)	382					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.1146C>T	CCDS7533.1																																																																																				0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			15	270	0	0	0	1	0	15	270					T	104119161	C	T	104119161	2	4	79	1	0	0	0	0	0	0	0	1	6299	755	27	1		1	GBF1	10	104119161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127440	104119161	31415586	11338	21655											
GBF1	8729	broad.mit.edu	37	chr10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaagatgccttatgAgatgaaggagatggcactgg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCCTTATGAGATGAAGGAG	0.473																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1546-1548)gAg>gGg		golgi brefeldin A resistant guanine nucleotide exchange factor 1							137	121	126					10																	104121533		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104121533A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1547A>G	10.37:g.104121533A>G	ENSP00000359000:p.Glu516Gly						p.E516G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	14	1807	+		Colorectal(252;0.0236)	516					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1547A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	33	5.211557	0.95069	.	.	ENSG00000107862	ENST00000369983	T	0.47528	0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90425	3.115	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;P;D	0.91635	0.999;0.741;0.998	T	0.80082	-0.1531	10	0.62326	D	0.03	-20.0851	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	516	ENSP00000359000:E516G	ENSP00000359000:E516G	E	+	2	0	GBF1	104111523	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.305000	0.96197	2.371000	0.80710	0.533000	0.62120	GAG		0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			56	303	0	0	0	1	0	56	303					G	104121533	A	G	104121533	3	3	79	1	0	0	0	0	1	0	0	0	6299	304	11	4	1597	4	GBF1	10	104121533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2372	104121533	31413214	11339	21656											
GBF1	8729	broad.mit.edu	37	chr10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgcccacatcacacCtgacaactttgagctctgcg	8	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1408					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACATCACACCTGACAACTTT	0.552																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4222-4224)cCt>cAt		golgi brefeldin A resistant guanine nucleotide exchange factor 1							89	84	85					10																	104136495		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136495C>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4223C>A	10.37:g.104136495C>A	ENSP00000359000:p.Pro1408His						p.P1408H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	32	4483	+		Colorectal(252;0.0236)	1408					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4223C>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582242	0.86748	.	.	ENSG00000107862	ENST00000369983	T	0.34667	1.35	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.96	T	0.70769	-0.4782	10	0.87932	D	0	-11.9933	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1408;1408;1408	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1408	ENSP00000359000:P1408H	ENSP00000359000:P1408H	P	+	2	0	GBF1	104126485	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CCT		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			76	323	1	0	1.07363e-35	1	1.28291e-35	76	323					A	104136495	C	A	104136495	3	1	79	1	0	0	0	0	1	0	0	0	6299	681	24	3	4345	3	GBF1	10	104136495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14962	104136495	31398252	11340	21657											
GBF1	8729	broad.mit.edu	37	chr10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacctgacaactttgagCtctgcgtcaagactctccgg	8	14	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1413					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAACTTTGAGCTCTGCGTCAA	0.547																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4237-4239)Ctc>Ttc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							79	76	77					10																	104136509		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136509C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4237C>T	10.37:g.104136509C>T	ENSP00000359000:p.Leu1413Phe						p.L1413F	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	32	4497	+		Colorectal(252;0.0236)	1413					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4237C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032462	0.54790	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.995	P;P;P	0.59221	0.854;0.733;0.795	T	0.04551	-1.0943	10	0.09843	T	0.71	-13.8769	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1413;1413;1413	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1413	ENSP00000359000:L1413F	ENSP00000359000:L1413F	L	+	1	0	GBF1	104126499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CTC		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			63	276	0	0	0	1	0	63	276					T	104136509	C	T	104136509	3	4	79	1	0	0	0	0	1	0	0	0	6299	797	28	2	4359	2	GBF1	10	104136509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	104136509	31398238	11341	21658											
NFKB2	4791	broad.mit.edu	37	chr10	104156690	104156690	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgagggaccagccaagatCgaggtggacctggtaacaca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CAGCCAAGATCGAGGTGGACC	0.597			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(271-273)atC>atT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							71	75	74					10																	104156690		2081	4216	6297	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104156690C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.273C>T	10.37:g.104156690C>T						NFKB2_ENST00000428099.1_Silent_p.I91I|NFKB2_ENST00000189444.6_Silent_p.I91I	p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	6	523	+		Colorectal(252;0.00957)	91			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.273C>T	CCDS41564.1																																																																																				0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			41	171	0	0	0	1	0	41	171					T	104156690	C	T	104156690	2	4	79	1	0	0	0	0	0	0	0	1	10418	874	31	1		1	NFKB2	10	104156690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20181	104156690	31378057	11342	21659											
NFKB2	4791	broad.mit.edu	37	chr10	104157352	104157352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatctgagtatagtgCggctgcgcttctctgccttc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104157352C>T	ENST00000369966.3	+	8	821	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	191	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAGTATAGTGCGGCTGCGCTT	0.582			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(571-573)Cgg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							189	221	210					10																	104157352		2111	4225	6336	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157352C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.571C>T	10.37:g.104157352C>T	ENSP00000358983:p.Arg191Trp					NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W|NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W	p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	8	821	+		Colorectal(252;0.00957)	191			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.571C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593452	0.66219	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.03	0.46877	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.90814	3.15	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	0.84191	0.0445	10	0.87932	D	0	.	14.3684	0.66823	0.1573:0.8427:0.0:0.0	.	191;191;191	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	W	191	ENSP00000410256:R191W;ENSP00000358983:R191W;ENSP00000189444:R191W	ENSP00000189444:R191W	R	+	1	2	NFKB2	104147342	0.838000	0.29461	0.935000	0.37517	0.928000	0.56348	1.063000	0.30567	1.035000	0.39972	0.561000	0.74099	CGG		0.582	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			20	1173	0	0	0	1	0	20	1173					T	104157352	C	T	104157352	3	4	79	1	0	0	0	0	1	0	0	0	10418	759	27	1	597	1	NFKB2	10	104157352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	104157352	31377395	11343	21660											
CUEDC2	79004	broad.mit.edu	37	chr10	104183780	104183780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccctcccaggctgcaggCccctcttcctttccctctac	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	189						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597																																						ENST00000369937.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(565-567)ggG>ggA		CUE domain containing 2							32	35	34					10																	104183780		1917	4117	6034	SO:0001819	synonymous_variant	79004					cytoplasm|nucleus	protein binding	g.chr10:104183780C>T	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.567G>A	10.37:g.104183780C>T						CUEDC2_ENST00000465409.1_5'UTR	p.G189G	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	712	-		Colorectal(252;0.122)	189					D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	c.567G>A	CCDS41566.1																																																																																				0.597	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		50	226	0	0	0	1	0	50	226					T	104183780	C	T	104183780	2	4	79	1	0	0	0	0	0	0	0	1	4064	726	26	2		2	CUEDC2	10	104183780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26428	104183780	31350967	11344	21661											
TMEM180	79847	broad.mit.edu	37	chr10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctgtcgttcctggCgttctgggtgccctgggccc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	115						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(343-345)gCg>gTg		transmembrane protein 180							69	73	72					10																	104230514		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104230514C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.344C>T	10.37:g.104230514C>T	ENSP00000238936:p.Ala115Val					TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	p.A115V	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	581	+		Colorectal(252;0.122)	115					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.344C>T	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537501	0.45176	.	.	ENSG00000138111	ENST00000238936	D	0.83163	-1.69	5.29	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.048256	0.85682	N	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.71876	-0.4460	10	0.19590	T	0.45	.	13.7692	0.63015	0.0:0.9256:0.0:0.0744	.	115	Q14CX5	TM180_HUMAN	V	115	ENSP00000238936:A115V	ENSP00000238936:A115V	A	+	2	0	TMEM180	104220504	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.901000	0.63259	1.220000	0.43490	0.511000	0.50034	GCG		0.692	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		181	694	0	0	0	1	0	181	694					T	104230514	C	T	104230514	3	4	79	1	0	0	0	0	1	0	0	0	16151	768	27	1	354	1	TMEM180	10	104230514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46734	104230514	31304233	11345	21662											
SUFU	51684	broad.mit.edu	37	chr10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatgtgtcctggcacaGccctttggataacagtgagt	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	165					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(493-495)aGc>aTc		suppressor of fused homolog (Drosophila)							130	118	122					10																	104352378		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104352378G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.494G>T	10.37:g.104352378G>T	ENSP00000358918:p.Ser165Ile					SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I	p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	4	660	+		Colorectal(252;0.207)	165					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.494G>T	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727188	0.89390	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82711	-1.64;-1.64;-1.64	5.35	5.35	0.76521	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	L	0.52573	1.65	0.80722	D	1	D;D;D	0.60575	0.985;0.982;0.988	P;P;P	0.49047	0.599;0.464;0.533	D	0.84571	0.0655	10	0.45353	T	0.12	-21.1564	19.0711	0.93136	0.0:0.0:1.0:0.0	.	165;165;165	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	165	ENSP00000358918:S165I;ENSP00000358915:S165I;ENSP00000411597:S165I	ENSP00000358915:S165I	S	+	2	0	SUFU	104342368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.506000	0.84524	0.561000	0.74099	AGC		0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		122	481	1	0	3.75716e-53	1	4.6801e-53	122	481					T	104352378	G	T	104352378	3	4	79	1	0	0	0	0	1	0	0	0	15420	971	34	3	508	3	SUFU	10	104352378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121864	104352378	31182369	11346	21663											
TRIM8	81603	broad.mit.edu	37	chr10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaggagaagcagctgCggaaaatgctagaaggtgag	15	6	0	4	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	345					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1033-1035)Cgg>Tgg		tripartite motif containing 8		C	TRP/ARG	0,4406		0,0,2203	41	33	36		1033	3.4	1	10	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM8	NM_030912.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	345/552	104416127	1,13005	2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416127C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1033C>T	10.37:g.104416127C>T	ENSP00000302120:p.Arg345Trp					TRIM8_ENST00000487927.1_3'UTR	p.R345W	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	1155	+		Colorectal(252;0.122)	345					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.1033C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842550	0.71488	0.0	1.16E-4	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79653	-1.29	5.41	3.37	0.38596	.	0.104805	0.64402	D	0.000004	T	0.75961	0.3921	N	0.24115	0.695	0.46185	D	0.998918	D	0.69078	0.997	P	0.50378	0.639	T	0.79806	-0.1648	10	0.66056	D	0.02	.	14.8214	0.70077	0.3272:0.6728:0.0:0.0	.	345	Q9BZR9	TRIM8_HUMAN	W	345;344	ENSP00000302120:R345W	ENSP00000302120:R345W	R	+	1	2	TRIM8	104406117	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.259000	0.44117	0.561000	0.74099	CGG		0.597	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		24	100	0	0	0	1	0	24	100					T	104416127	C	T	104416127	3	4	79	1	0	0	0	0	1	0	0	0	16601	759	27	1	1051	1	TRIM8	10	104416127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63749	104416127	31118620	11347	21664											
CYP17A1	1586	broad.mit.edu	37	chr10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaccaggctgtctttgCtcaggttgtctatgatgcct	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	210					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(628-630)aGc>aTc		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						205	179	188					10																	104594579		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104594579C>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.629G>T	10.37:g.104594579C>A	ENSP00000358903:p.Ser210Ile		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172	CYP17A1_ENST00000489268.1_5'UTR	p.S210I	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	800	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	210					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.629G>T	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464642	0.63513	.	.	ENSG00000148795	ENST00000369887	T	0.70045	-0.45	5.8	-5.97	0.02227	.	0.583949	0.18293	N	0.145653	T	0.54549	0.1865	L	0.39147	1.195	0.09310	N	1	P	0.38565	0.637	P	0.47705	0.555	T	0.52704	-0.8540	10	0.48119	T	0.1	.	3.7562	0.08586	0.0791:0.2916:0.1865:0.4427	.	210	P05093	CP17A_HUMAN	I	210	ENSP00000358903:S210I	ENSP00000358903:S210I	S	-	2	0	CYP17A1	104584569	0.453000	0.25721	0.000000	0.03702	0.002000	0.02628	1.205000	0.32308	-0.686000	0.05170	-0.358000	0.07595	AGC		0.483	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		74	387	1	0	2.15109e-50	1	2.66539e-50	74	387					A	104594579	C	A	104594579	3	1	79	1	0	0	0	0	1	0	0	0	4158	797	28	3	921	3	CYP17A1	10	104594579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178452	104594579	30940168	11348	21665											
C10orf32	100528007	broad.mit.edu	37	chr10	104620108	104620108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgctaggtcaggcagctcGaaacatggtactccaggaag	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104620108G>A	ENST00000299353.6	+	2	176	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	C10orf32_ENST00000369883.3_Missense_Mutation_p.R54Q|C10orf32_ENST00000339834.5_Missense_Mutation_p.R54Q					C10orf32-ASMT readthrough (NMD candidate)																		CAGGCAGCTCGAAACATGGTA	0.383																																						ENST00000299353.6																			0											c.(160-162)cGa>cAa									130	131	131					10																	104620108		2203	4300	6503	SO:0001583	missense	0							g.chr10:104620108G>A			10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316			49183	other	readthrough							Standard	NR_037644		Approved				OTTHUMG00000184175	ENST00000299353.6:c.161G>A	10.37:g.104620108G>A	ENSP00000299353:p.Arg54Gln					C10orf32_ENST00000369883.3_Missense_Mutation_p.R54Q|C10orf32_ENST00000339834.5_Missense_Mutation_p.R54Q	p.R54Q							2	176	+									Missense_Mutation	SNP	ENST00000299353.6	37	c.161G>A	CCDS7542.2	.	.	.	.	.	.	.	.	.	.	G	34	5.411624	0.96072	.	.	ENSG00000166275	ENST00000339834;ENST00000369883	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	U	0.000009	T	0.78207	0.4247	M	0.66939	2.045	0.51012	D	0.999904	D	0.71674	0.998	D	0.72982	0.979	T	0.77608	-0.2524	9	0.54805	T	0.06	-18.9638	18.1474	0.89662	0.0:0.0:1.0:0.0	.	53	Q96B45	CJ032_HUMAN	Q	54	.	ENSP00000299353:R54Q	R	+	2	0	C10orf32	104610098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.820000	0.75267	2.816000	0.96949	0.561000	0.74099	CGA		0.383	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000468206.2			36	168	0	0	0	1	0	36	168					A	104620108	G	A	104620108	3	1	79	1	0	0	0	0	1	0	0	0	1607	1058	37	1	167	1	C10orf32	10	104620108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25529	104620108	30914639	11349	21666											
AS3MT	57412	broad.mit.edu	37	chr10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaagaaacagcagctAtcttgaagaattcaagattt	9	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	309					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(925-927)Atc>Gtc		arsenic (+3 oxidation state) methyltransferase							116	109	112					10																	104650340		1837	4081	5918	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104650340A>G	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.925A>G	10.37:g.104650340A>G	ENSP00000358896:p.Ile309Val					C10ORF32_ENST00000299353.6_3'UTR	p.I309V	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	10	1002	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	309					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.925A>G	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935135	0.34189	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.08	1.25	0.21368	.	0.103406	0.64402	N	0.000005	T	0.23451	0.0567	M	0.62209	1.925	0.25357	N	0.988814	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.21917	0.037;0.026;0.026	T	0.17471	-1.0368	9	0.38643	T	0.18	-5.2001	8.5109	0.33217	0.7531:0.0:0.2469:0.0	.	309;309;309	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	309	ENSP00000358896:I309V	ENSP00000358896:I309V	I	+	1	0	AS3MT	104640330	0.412000	0.25392	0.952000	0.39060	0.984000	0.73092	-0.020000	0.12525	0.320000	0.23234	0.413000	0.27773	ATC		0.358	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		102	382	0	0	0	1	0	102	382					G	104650340	A	G	104650340	3	3	79	1	0	0	0	0	1	0	0	0	1006	449	16	4	963	4	AS3MT	10	104650340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30232	104650340	30884407	11350	21667											
CNNM2	54805	broad.mit.edu	37	chr10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtttgaaggggagcgctCcaatatcgtggacctgctgt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	489	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGAGCGCTCCAATATCGTG	0.517																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1465-1467)tCc>tTc		cyclin M2							108	103	105					10																	104679703		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679703C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1466C>T	10.37:g.104679703C>T	ENSP00000358894:p.Ser489Phe					CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F|CNNM2_ENST00000457502.2_Missense_Mutation_p.S247F|CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F	p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1590	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	489			CBS 1.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1466C>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917192	0.52546	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.104424	0.64402	D	0.000002	D	0.90256	0.6953	M	0.90759	3.145	0.80722	D	1	P;P;D	0.64830	0.933;0.932;0.994	P;P;D	0.70227	0.77;0.593;0.968	D	0.92372	0.5906	10	0.87932	D	0	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	489;489;489	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	489	ENSP00000392875:S489F;ENSP00000358891:S489F;ENSP00000358894:S489F	ENSP00000286899:S489F	S	+	2	0	CNNM2	104669693	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.696000	0.61774	2.343000	0.79666	0.561000	0.74099	TCC		0.517	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		71	367	0	0	0	1	0	71	367					T	104679703	C	T	104679703	3	4	79	1	0	0	0	0	1	0	0	0	3622	855	30	2	1468	2	CNNM2	10	104679703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29363	104679703	30855044	11351	21668											
CNNM2	54805	broad.mit.edu	37	chr10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgacaccaagttggacGctatgctggaagaatttaag	10	7	1	2	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T|CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	533	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1597-1599)Gct>Act		cyclin M2		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	115	121	119		1597,1597,1597	5.6	1	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	533/876,533/854,533/553	104679834	1,13005	2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679834G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1597G>A	10.37:g.104679834G>A	ENSP00000358894:p.Ala533Thr					CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A291T|CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T	p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1721	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	533			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1597G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599526	0.46318	2.27E-4	0.0	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.93426	-3.22;-0.99;-3.22	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.103082	0.64402	D	0.000004	D	0.89420	0.6710	N	0.10916	0.065	0.58432	D	0.999999	B;B;D	0.56968	0.027;0.075;0.978	B;B;P	0.50049	0.024;0.011;0.629	D	0.87620	0.2509	10	0.16896	T	0.51	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	533;533;533	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	T	533	ENSP00000392875:A533T;ENSP00000358891:A533T;ENSP00000358894:A533T	ENSP00000286899:A533T	A	+	1	0	CNNM2	104669824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.750000	0.74888	2.604000	0.88044	0.561000	0.74099	GCT		0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		81	714	0	0	0	1	0	81	714					A	104679834	G	A	104679834	3	1	79	1	0	0	0	0	1	0	0	0	3622	1087	38	1	1599	1	CNNM2	10	104679834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	104679834	30854913	11352	21669											
CNNM2	54805	broad.mit.edu	37	chr10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctgcacaacgaaggcGccatctaggccgcgctggct	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	874					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGAAGGCGCCATCTAGGC	0.652																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2620-2622)Gcc>Acc		cyclin M2							61	66	64					10																	104836929		2120	4225	6345	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836929G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2620G>A	10.37:g.104836929G>A	ENSP00000358894:p.Ala874Thr					CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A632T	p.A874T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2744	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	874					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2620G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049847	0.75846	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.119569	0.56097	D	0.000025	T	0.55561	0.1928	N	0.14661	0.345	0.39100	D	0.961268	P;P	0.42871	0.792;0.688	B;B	0.31245	0.126;0.059	T	0.66424	-0.5927	10	0.59425	D	0.04	.	15.2976	0.73922	0.0:0.1395:0.8605:0.0	.	852;874	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	T	875;853;874;852;573	ENSP00000358894:A874T	ENSP00000286899:A852T	A	+	1	0	CNNM2	104826919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	2.188000	0.42612	2.677000	0.91161	0.555000	0.69702	GCC		0.652	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		57	293	0	0	0	1	0	57	293					A	104836929	G	A	104836929	3	1	79	1	0	0	0	0	1	0	0	0	3622	1087	38	1	2692	1	CNNM2	10	104836929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157095	104836929	30697818	11353	21670											
INA	9118	broad.mit.edu	37	chr10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccgcaccaacgagaaGgagcagctgcagggcctcaa	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	95	Coil 1A.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(283-285)aaG>aaT		internexin neuronal intermediate filament protein, alpha							31	31	31					10																	105037253		2146	4177	6323	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037253G>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.285G>T	10.37:g.105037253G>T	ENSP00000358865:p.Lys95Asn						p.K95N	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	334	+			95			Coil 1A.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.285G>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949929	0.73787	.	.	ENSG00000148798	ENST00000369849	D	0.93547	-3.24	4.03	2.15	0.27550	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98883	4.36	0.45704	D	0.998619	D	0.89917	1.0	D	0.79108	0.992	D	0.96865	0.9635	10	0.87932	D	0	.	9.5962	0.39576	0.1916:0.0:0.8084:0.0	.	95	Q16352	AINX_HUMAN	N	95	ENSP00000358865:K95N	ENSP00000358865:K95N	K	+	3	2	INA	105027243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.345000	0.65987	1.032000	0.39892	0.462000	0.41574	AAG		0.687	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		26	181	1	0	4.87955e-14	1	5.28594e-14	26	181					T	105037253	G	T	105037253	3	4	79	1	0	0	0	0	1	0	0	0	7760	991	35	3	287	3	INA	10	105037253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200324	105037253	30497494	11354	21671											
PCGF6	84108	broad.mit.edu	37	chr10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccacaagaccataatgaaGgacaagcagaccatcctgaa	7	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	338					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		CCATAATGAAGGACAAGCAGA	0.408																																						ENST00000369847.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(1012-1014)Ctt>Att		polycomb group ring finger 6							117	103	108					10																	105063703		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105063703G>T	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.1012C>A	10.37:g.105063703G>T	ENSP00000358862:p.Leu338Ile					PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	p.L338I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	10	1079	-		Colorectal(252;0.0747)|Breast(234;0.128)	338					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.1012C>A	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921880	0.73213	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.56275	0.48;0.47	5.34	5.34	0.76211	.	0.066550	0.64402	N	0.000008	T	0.75177	0.3814	M	0.86651	2.83	0.31572	N	0.656259	D;D	0.67145	0.996;0.993	D;D	0.73708	0.978;0.981	T	0.80808	-0.1217	10	0.72032	D	0.01	.	14.5467	0.68035	0.0:0.0:1.0:0.0	.	263;338	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	338;263	ENSP00000358862:L338I;ENSP00000338845:L263I	ENSP00000338845:L263I	L	-	1	0	PCGF6	105053693	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.024000	0.64090	2.510000	0.84645	0.555000	0.69702	CTT		0.408	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		12	361	1	0	7.03913e-09	1	7.37812e-09	12	361					T	105063703	G	T	105063703	3	4	79	1	0	0	0	0	1	0	0	0	11620	1000	35	3	44	3	PCGF6	10	105063703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26450	105063703	30471044	11355	21672											
USMG5	84833	broad.mit.edu	37	chr10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtgaactggtattgcGcatcactttctggacctgcc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	8						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		CTGGTATTGCGCATCACTTTC	0.279																																						ENST00000369825.1																			0				breast(1)	1						c.(22-24)gCg>gTg		up-regulated during skeletal muscle growth 5 homolog (mouse)							31	36	35					10																	105152192		2191	4290	6481	SO:0001583	missense	84833					integral to membrane		g.chr10:105152192G>A	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"upregulated during skeletal muscle growth 5", "upregulated during skeletal muscle growth 5 homolog (mouse)"			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.23C>T	10.37:g.105152192G>A	ENSP00000358840:p.Ala8Val					USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V	p.A8V			Q96IX5	USMG5_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)	3	505	-		Colorectal(252;0.142)	8					B2R4N2|D3DR92	Missense_Mutation	SNP	ENST00000369825.1	37	c.23C>T	CCDS7548.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459732	0.12342	.	.	ENSG00000173915	ENST00000369825;ENST00000369815;ENST00000309579;ENST00000337003;ENST00000369811	.	.	.	6.17	3.11	0.35812	.	0.553031	0.17366	N	0.176845	T	0.37293	0.0998	.	.	.	0.18873	N	0.999986	B	0.15473	0.013	B	0.06405	0.002	T	0.21861	-1.0233	8	0.35671	T	0.21	.	14.0578	0.64781	0.0:0.3137:0.5913:0.095	.	8	Q96IX5	USMG5_HUMAN	V	8	.	ENSP00000311245:A8V	A	-	2	0	USMG5	105142182	0.065000	0.20965	0.996000	0.52242	0.171000	0.22731	1.517000	0.35867	0.823000	0.34589	-0.152000	0.13540	GCG		0.279	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	NM_032747		36	175	0	0	0	1	0	36	175					A	105152192	G	A	105152192	3	1	79	1	0	0	0	0	1	0	0	0	17092	1087	38	1	161	1	USMG5	10	105152192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88489	105152192	30382555	11356	21673											
PDCD11	22984	broad.mit.edu	37	chr10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacagagtgctgagtgCtgaggccctgaagcctggca	14	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	181					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(541-543)gCt>gAt		programmed cell death 11							166	143	151					10																	105164918		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105164918C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.542C>A	10.37:g.105164918C>A	ENSP00000358812:p.Ala181Asp						p.A181D	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	636	+		Colorectal(252;0.0747)|Breast(234;0.128)	181					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.542C>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001566	0.74818	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17854	2.25	4.87	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.239585	0.43579	D	0.000550	T	0.15176	0.0366	L	0.39898	1.24	0.52501	D	0.999958	B	0.34264	0.446	B	0.29524	0.103	T	0.06356	-1.0831	10	0.23302	T	0.38	-7.0362	17.6017	0.88027	0.0:1.0:0.0:0.0	.	181	Q14690	RRP5_HUMAN	D	181	ENSP00000358812:A181D	ENSP00000358812:A181D	A	+	2	0	PDCD11	105154908	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	7.337000	0.79256	2.272000	0.75746	0.462000	0.41574	GCT		0.562	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			64	376	1	0	1.02487e-32	1	1.21166e-32	64	376					A	105164918	C	A	105164918	3	1	79	1	0	0	0	0	1	0	0	0	11659	797	28	3	556	3	PDCD11	10	105164918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12726	105164918	30369829	11357	21674											
PDCD11	22984	broad.mit.edu	37	chr10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccatcctcgaaccagaGttgtgcacctgagcctgcgc	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	340	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1018-1020)Gtt>Ttt		programmed cell death 11							121	101	108					10																	105172912		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172912G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1018G>T	10.37:g.105172912G>T	ENSP00000358812:p.Val340Phe						p.V340F	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1112	+		Colorectal(252;0.0747)|Breast(234;0.128)	340			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1018G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245882	0.39697	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17691	2.26	5.47	2.35	0.29111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.035590	0.07544	N	0.914350	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.99998	B	0.32939	0.391	B	0.31390	0.129	T	0.25606	-1.0127	10	0.54805	T	0.06	0.4907	7.2346	0.26062	0.1581:0.0:0.6925:0.1493	.	340	Q14690	RRP5_HUMAN	F	340	ENSP00000358812:V340F	ENSP00000358812:V340F	V	+	1	0	PDCD11	105162902	0.988000	0.35896	0.845000	0.33349	0.961000	0.63080	2.276000	0.43408	1.313000	0.45069	0.467000	0.42956	GTT		0.592	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			39	365	1	0	2.59497e-14	1	2.81812e-14	39	365					T	105172912	G	T	105172912	3	4	79	1	0	0	0	0	1	0	0	0	11659	1029	36	3	1048	3	PDCD11	10	105172912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7994	105172912	30361835	11358	21675											
PDCD11	22984	broad.mit.edu	37	chr10	105177682	105177682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaaagccattaacaTtgggcaggtacgtggacttc	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105177682T>A	ENST00000369797.3	+	14	1998	c.1904T>A	c.(1903-1905)aTt>aAt	p.I635N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	635					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCATTAACATTGGGCAGGTA	0.478																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1903-1905)aTt>aAt		programmed cell death 11							146	134	138					10																	105177682		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105177682T>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1904T>A	10.37:g.105177682T>A	ENSP00000358812:p.Ile635Asn						p.I635N	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	14	1998	+		Colorectal(252;0.0747)|Breast(234;0.128)	635					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1904T>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615988	0.28801	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10477	2.87	5.28	-1.54	0.08584	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	1.092910	0.06925	N	0.810013	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41858	-0.9485	10	0.56958	D	0.05	-0.0027	6.3525	0.21383	0.1121:0.3566:0.0:0.5312	.	635	Q14690	RRP5_HUMAN	N	635	ENSP00000358812:I635N	ENSP00000358812:I635N	I	+	2	0	PDCD11	105167672	0.054000	0.20591	0.029000	0.17559	0.132000	0.20833	0.565000	0.23578	-0.229000	0.09854	-0.520000	0.04383	ATT		0.478	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	402	0	0	0	1	0	10	402					A	105177682	T	A	105177682	3	1	79	1	0	0	0	0	1	0	0	0	11659	1493	52	5	1954	5	PDCD11	10	105177682	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4770	105177682	30357065	11359	21676											
PDCD11	22984	broad.mit.edu	37	chr10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctatgtagggtccaTccagccacacggtgtgttct	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1334	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4000-4002)aTc>aCc		programmed cell death 11							111	114	113					10																	105198541		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105198541T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4001T>C	10.37:g.105198541T>C	ENSP00000358812:p.Ile1334Thr						p.I1334T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	27	4095	+		Colorectal(252;0.0747)|Breast(234;0.128)	1334			S1 motif 12.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4001T>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025769	0.35701	.	.	ENSG00000148843	ENST00000369797	T	0.21031	2.03	5.62	5.62	0.85841	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.295434	0.37053	N	0.002264	T	0.23094	0.0558	L	0.53729	1.69	0.09310	N	1	B	0.32717	0.381	B	0.30029	0.11	T	0.14090	-1.0485	10	0.44086	T	0.13	-3.134	15.8248	0.78690	0.0:0.0:0.0:1.0	.	1334	Q14690	RRP5_HUMAN	T	1334	ENSP00000358812:I1334T	ENSP00000358812:I1334T	I	+	2	0	PDCD11	105188531	0.846000	0.29590	0.017000	0.16124	0.003000	0.03518	6.593000	0.74100	2.140000	0.66376	0.459000	0.35465	ATC		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			35	372	0	0	0	1	0	35	372					C	105198541	T	C	105198541	3	2	79	1	0	0	0	0	1	0	0	0	11659	1435	50	4	4103	4	PDCD11	10	105198541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20859	105198541	30336206	11360	21677											
CALHM2	51063	broad.mit.edu	37	chr10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccgcgccgttgcctgCcagaccctgggcccacttgt	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617																																						ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(919-921)Gca>Aca		calcium homeostasis modulator 2							53	49	50					10																	105206962		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105206962C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.919G>A	10.37:g.105206962C>T	ENSP00000260743:p.Ala307Thr					CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T	p.A307T	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1442	-			307					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.919G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723844	0.48728	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17054	2.3;2.3	5.52	-1.14	0.09741	.	1.268130	0.05081	N	0.483424	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.14656	T	0.56	0.0966	7.019	0.24904	0.0:0.3498:0.1218:0.5285	.	307	Q9HA72	CAHM2_HUMAN	T	307	ENSP00000358803:A307T;ENSP00000260743:A307T	ENSP00000260743:A307T	A	-	1	0	CALHM2	105196952	0.000000	0.05858	0.018000	0.16275	0.710000	0.40934	-0.403000	0.07214	-0.220000	0.09988	0.561000	0.74099	GCA		0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		78	281	0	0	0	1	0	78	281					T	105206962	C	T	105206962	3	4	79	1	0	0	0	0	1	0	0	0	2590	739	26	2	56	2	CALHM2	10	105206962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8421	105206962	30327785	11361	21678											
CALHM2	51063	broad.mit.edu	37	chr10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacaaagccaaagaagCggcgcacattgttggcagcg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	249					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCAAAGAAGCGGCGCACATT	0.612																																						ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(745-747)cGc>cAc		calcium homeostasis modulator 2							84	75	78					10																	105207135		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207135C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.746G>A	10.37:g.105207135C>T	ENSP00000260743:p.Arg249His					CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H	p.R249H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1269	-			249					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.746G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341551	0.61073	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17213	2.29;2.29	5.37	4.45	0.53987	.	0.340884	0.32002	N	0.006726	T	0.10723	0.0262	N	0.13098	0.295	0.80722	D	1	P	0.37441	0.595	B	0.40199	0.322	T	0.17077	-1.0381	10	0.41790	T	0.15	-18.0115	6.8321	0.23915	0.0:0.6943:0.0:0.3057	.	249	Q9HA72	CAHM2_HUMAN	H	249	ENSP00000358803:R249H;ENSP00000260743:R249H	ENSP00000260743:R249H	R	-	2	0	CALHM2	105197125	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.495000	0.35627	1.251000	0.43983	0.561000	0.74099	CGC		0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		18	380	0	0	0	1	0	18	380					T	105207135	C	T	105207135	3	4	79	1	0	0	0	0	1	0	0	0	2590	768	27	1	229	1	CALHM2	10	105207135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173	105207135	30327612	11362	21679											
CALHM1	255022	broad.mit.edu	37	chr10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcgctgggccatggaGcagaacatgtagcgcaacac	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	101					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(301-303)tgC>tgA		calcium homeostasis modulator 1							33	34	33					10																	105218206		2203	4298	6501	SO:0001587	stop_gained	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218206G>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.303C>A	10.37:g.105218206G>T	ENSP00000329926:p.Cys101*					RP11-225H22.4_ENST00000411906.1_RNA	p.C101*	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	439	-			101					Q5W091	Nonsense_Mutation	SNP	ENST00000329905.5	37	c.303C>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642628	0.96704	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.38	1.36	0.22044	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3187	9.1978	0.37240	0.4035:0.0:0.5965:0.0	.	.	.	.	X	101	.	ENSP00000329926:C101X	C	-	3	2	CALHM1	105208196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.880000	0.28159	0.407000	0.25591	0.491000	0.48974	TGC		0.657	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		52	222	1	0	6.32628e-17	1	6.96643e-17	52	222					T	105218206	G	T	105218206	4	4	79	1	0	0	0	0	0	1	0	0	2589	963	34	3	745	3	CALHM1	10	105218206	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11071	105218206	30316541	11363	21680											
CALHM1	255022	broad.mit.edu	37	chr10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtacatctgggcactggCcagggccatgatgccacaga	13	12	1	2	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	30					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(88-90)Gcc>Acc		calcium homeostasis modulator 1		C	THR/ALA	0,4406		0,0,2203	46	49	48		88	5.6	1	10	dbSNP_134	48	9,8591	7.1+/-27.0	0,9,4291	yes	missense	CALHM1	NM_001001412.3	58	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	probably-damaging	30/347	105218421	9,12997	2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218421C>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.88G>A	10.37:g.105218421C>T	ENSP00000329926:p.Ala30Thr					RP11-225H22.4_ENST00000411906.1_RNA	p.A30T	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	224	-			30					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.88G>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572932	0.96553	0.0	0.001047	ENSG00000185933	ENST00000329905	T	0.20332	2.08	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.66056	D	0.02	-31.676	18.5069	0.90901	0.0:1.0:0.0:0.0	.	30	Q8IU99	CAHM1_HUMAN	T	30	ENSP00000329926:A30T	ENSP00000329926:A30T	A	-	1	0	CALHM1	105208411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	2.619000	0.88677	0.491000	0.48974	GCC		0.612	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		57	240	0	0	0	1	0	57	240					T	105218421	C	T	105218421	3	4	79	1	0	0	0	0	1	0	0	0	2589	739	26	2	960	2	CALHM1	10	105218421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	105218421	30316326	11364	21681											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcttggagcccttgaGccctccacggagctggcctg	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	792					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2374-2376)Ctc>Atc		SH3 and PX domains 2A							182	183	183					10																	105362601		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362601G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2374C>A	10.37:g.105362601G>T	ENSP00000358789:p.Leu792Ile					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I|SH3PXD2A_ENST00000427662.2_Intron	p.L792I			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2650	-		Colorectal(252;0.0815)|Breast(234;0.131)	792					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2374C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862342|1.862342	0.32884|0.32884	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59224	.|0.39;0.33;0.49;0.28	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.056930	.|0.64402	.|D	.|0.000001	T|T	0.66761|0.66761	0.2822|0.2822	L|L	0.32530|0.32530	0.975|0.975	0.37370|0.37370	D|D	0.911607|0.911607	.|D;D;D;D	.|0.71674	.|0.997;0.997;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.978;0.978;0.984;0.99	T|T	0.66842|0.66842	-0.5821|-0.5821	5|10	.|0.27785	.|T	.|0.31	-25.5521|-25.5521	18.5141|18.5141	0.90930|0.90930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|792;641;637;764	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	D|I	718|792;764;599;707;659;627	.|ENSP00000358789:L792I;ENSP00000348215:L764I;ENSP00000443663:L659I;ENSP00000441514:L627I	.|ENSP00000318135:L599I	A|L	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352591|105352591	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.356000|0.356000	0.29392|0.29392	2.362000|2.362000	0.44169|0.44169	2.373000|2.373000	0.80994|0.80994	0.555000|0.555000	0.69702|0.69702	GCT|CTC		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		259	1138	1	0	5.1204e-76	1	6.53267e-76	259	1138					T	105362601	G	T	105362601	3	4	79	1	0	0	0	0	1	0	0	0	14306	971	34	3	1031	3	SH3PXD2A	10	105362601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144180	105362601	30172146	11365	21682											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtctcagctggcgccGtaaagtgctgatgtccatct	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261	251	254					10																	105362640		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362640G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000427662.2_Intron	p.R779W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	779					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		316	1416	0	0	0	1	0	316	1416					A	105362640	G	A	105362640	3	1	79	1	0	0	0	0	1	0	0	0	14306	1144	40	1	1070	1	SH3PXD2A	10	105362640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	105362640	30172107	11366	21683											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttatcgatgtatgatgCgggggcccagccctccttct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	499	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1495-1497)Gca>Aca		SH3 and PX domains 2A							55	52	53					10																	105363480		2203	4295	6498	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363480C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1495G>A	10.37:g.105363480C>T	ENSP00000358789:p.Ala499Thr					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T|SH3PXD2A_ENST00000427662.2_Intron	p.A499T			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1771	-		Colorectal(252;0.0815)|Breast(234;0.131)	499			SH3 3.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1495G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.493212|3.493212	0.64186|0.64186	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.205803|.	0.51477|.	D|.	0.000089|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.67397|0.67397	2.05|2.05	0.39466|0.39466	D|D	0.967659|0.967659	P;D;D;D|.	0.65815|.	0.941;0.995;0.995;0.994|.	P;D;D;P|.	0.65573|.	0.577;0.936;0.913;0.861|.	T|T	0.72374|0.72374	-0.4313|-0.4313	10|5	0.34782|.	T|.	0.22|.	-19.4094|-19.4094	14.3946|14.3946	0.67003|0.67003	0.1477:0.8523:0.0:0.0|0.1477:0.8523:0.0:0.0	.|.	499;348;344;471|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	499;471;306;414;366;334|425	ENSP00000358789:A499T;ENSP00000348215:A471T;ENSP00000443663:A366T;ENSP00000441514:A334T|.	ENSP00000318135:A306T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105353470|105353470	0.994000|0.994000	0.37717|0.37717	0.175000|0.175000	0.22980|0.22980	0.919000|0.919000	0.55068|0.55068	3.182000|3.182000	0.50910|0.50910	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		33	300	0	0	0	1	0	33	300					T	105363480	C	T	105363480	3	4	79	1	0	0	0	0	1	0	0	0	14306	768	27	1	1910	1	SH3PXD2A	10	105363480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	105363480	30171267	11367	21684											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105372695	105372695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcaggaacgcccacGgcactgccattggaggcatt	12	13	1	0	rs578149053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	391					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.001					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1171-1173)gcC>gcT		SH3 and PX domains 2A							53	48	49					10																	105372695		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372695G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1173C>T	10.37:g.105372695G>A						SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A	p.A391A			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	12	1449	-		Colorectal(252;0.0815)|Breast(234;0.131)	391					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1173C>T		.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116878	0.01799	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.67	-4.99	0.03010	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	-23.192	1.2954	0.02068	0.3276:0.1575:0.3404:0.1745	.	.	.	.	C	318	.	.	R	-	1	0	SH3PXD2A	105362685	0.015000	0.18098	0.389000	0.26208	0.029000	0.11900	-0.088000	0.11198	-0.711000	0.04995	-2.189000	0.00312	CGT		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		13	300	0	0	0	1	0	13	300					A	105372695	G	A	105372695	2	1	79	1	0	0	0	0	0	0	0	1	14306	1103	39	1		1	SH3PXD2A	10	105372695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9215	105372695	30162052	11368	21685											
OBFC1	79991	broad.mit.edu	37	chr10	105657393	105657393	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctcctgctggtaaaagctCtgcactctgttctccatgag	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	222	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(664-666)caG>caA		oligonucleotide/oligosaccharide-binding fold containing 1							121	106	111					10																	105657393		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657393C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.666G>A	10.37:g.105657393C>T						OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.Q222Q	p.Q222Q	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	7	833	-		Colorectal(252;0.178)	222					D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.666G>A	CCDS7552.1																																																																																				0.532	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		77	326	0	0	0	1	0	77	326					T	105657393	C	T	105657393	2	4	79	1	0	0	0	0	0	0	0	1	10849	912	32	2		2	OBFC1	10	105657393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284698	105657393	29877354	11369	21686											
OBFC1	79991	broad.mit.edu	37	chr10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgttcttacctccataaCtgtagaaagcatctctttct	4	10	3	1	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	74					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(220-222)aGt>aTt		oligonucleotide/oligosaccharide-binding fold containing 1		C	ILE/SER	0,4404		0,0,2202	129	114	119		221	2.4	1	10	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	OBFC1	NM_024928.4	142	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	74/369	105670293	1,13003	2202	4300	6502	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105670293C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.221G>T	10.37:g.105670293C>A	ENSP00000224950:p.Ser74Ile					OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I	p.S74I	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	3	388	-		Colorectal(252;0.178)	74					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.221G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022059	0.35701	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.22336	1.96;1.96	5.47	2.36	0.29203	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.159693	0.64402	N	0.000001	T	0.15955	0.0384	L	0.39245	1.2	0.41782	D	0.989827	B	0.18461	0.028	B	0.15052	0.012	T	0.06661	-1.0814	10	0.32370	T	0.25	-1.2429	9.8972	0.41327	0.4001:0.4793:0.1205:0.0	.	74	Q9H668	STN1_HUMAN	I	74	ENSP00000224950:S74I;ENSP00000358779:S74I	ENSP00000224950:S74I	S	-	2	0	OBFC1	105660283	0.976000	0.34144	0.998000	0.56505	0.779000	0.44077	0.099000	0.15210	0.750000	0.32877	0.557000	0.71058	AGT		0.393	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		42	191	1	0	9.84934e-19	1	1.0948e-18	42	191					A	105670293	C	A	105670293	3	1	79	1	0	0	0	0	1	0	0	0	10849	565	20	3	917	3	OBFC1	10	105670293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12900	105670293	29864454	11370	21687											
SLK	9748	broad.mit.edu	37	chr10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttctgaccttagtatcGccagctctgaagaagataaa	7	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	346	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTAGTATCGCCAGCTCTGA	0.353																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(1036-1038)Gcc>Acc		STE20-like kinase							71	76	74					10																	105761972		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761972G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1036G>A	10.37:g.105761972G>A	ENSP00000358770:p.Ala346Thr					SLK_ENST00000335753.4_Missense_Mutation_p.A346T	p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1581	+		Colorectal(252;0.178)	346			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1036G>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759677	0.69763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.060003	0.64402	D	0.000003	T	0.49558	0.1564	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.955;0.99	T	0.33394	-0.9870	10	0.42905	T	0.14	.	19.5347	0.95244	0.0:0.0:1.0:0.0	.	346;346	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	346	ENSP00000336824:A346T;ENSP00000358770:A346T	ENSP00000336824:A346T	A	+	1	0	SLK	105751962	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.320000	0.96346	2.622000	0.88805	0.455000	0.32223	GCC		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		90	451	0	0	0	1	0	90	451					A	105761972	G	A	105761972	3	1	79	1	0	0	0	0	1	0	0	0	14798	1087	38	1	1070	1	SLK	10	105761972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91679	105761972	29772775	11371	21688											
SLK	9748	broad.mit.edu	37	chr10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcagtgaagccaagactcGaatggccatgtttaagaaga	12	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1082					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCAAGACTCGAATGGCCATG	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3244-3246)cGa>cAa		STE20-like kinase							116	115	116					10																	105779604		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105779604G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3245G>A	10.37:g.105779604G>A	ENSP00000358770:p.Arg1082Gln					SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	p.R1082Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	16	3790	+		Colorectal(252;0.178)	1082					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3245G>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	36	5.906712	0.97093	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	19.8949	0.96954	0.0:0.0:1.0:0.0	.	1051;1082	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	1051;1082	ENSP00000336824:R1051Q;ENSP00000358770:R1082Q	ENSP00000336824:R1051Q	R	+	2	0	SLK	105769594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.712000	0.92718	0.484000	0.47621	CGA		0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		126	549	0	0	0	1	0	126	549					A	105779604	G	A	105779604	3	1	79	1	0	0	0	0	1	0	0	0	14798	1058	37	1	3307	1	SLK	10	105779604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17632	105779604	29755143	11372	21689											
COL17A1	1308	broad.mit.edu	37	chr10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtgggcctgggggacCttgtaaattaagaacttcta	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	857	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2569-2571)Ggt>Agt		collagen, type XVII, alpha 1							23	26	25					10																	105801279		2201	4299	6500	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105801279C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2569G>A	10.37:g.105801279C>T	ENSP00000340937:p.Gly857Ser					COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	37	2859	-		Colorectal(252;0.103)|Breast(234;0.122)	857			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2569G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188459	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98105	-4.72;-4.72	4.66	4.66	0.58398	.	0.000000	0.47455	D	0.000224	D	0.98836	0.9607	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99013	1.0815	10	0.87932	D	0	-8.0688	13.4278	0.61037	0.0:1.0:0.0:0.0	.	857	Q9UMD9	COHA1_HUMAN	S	857	ENSP00000340937:G857S;ENSP00000358748:G857S	ENSP00000340937:G857S	G	-	1	0	COL17A1	105791269	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.833000	0.62766	2.638000	0.89438	0.491000	0.48974	GGT		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		26	146	0	0	0	1	0	26	146					T	105801279	C	T	105801279	3	4	79	1	0	0	0	0	1	0	0	0	3683	681	24	2	2004	2	COL17A1	10	105801279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21675	105801279	29733468	11373	21690											
COL17A1	1308	broad.mit.edu	37	chr10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtcccagggaaccctcGatctcctgcaggaacaaagg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	584	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1750-1752)Cga>Tga		collagen, type XVII, alpha 1							51	48	49					10																	105813871		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105813871G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1750C>T	10.37:g.105813871G>A	ENSP00000340937:p.Arg584*					COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	21	2040	-		Colorectal(252;0.103)|Breast(234;0.122)	584			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.1750C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775084	0.96922	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.98	3.03	0.35002	.	0.194758	0.25230	N	0.032179	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.486	11.3663	0.49673	0.0:0.0:0.6726:0.3274	.	.	.	.	X	584;584;568	.	ENSP00000340937:R584X	R	-	1	2	COL17A1	105803861	0.756000	0.28383	0.090000	0.20809	0.101000	0.19017	1.045000	0.30341	1.087000	0.41251	-0.475000	0.04921	CGA		0.532	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		11	51	0	0	0	1	0	11	51					A	105813871	G	A	105813871	4	1	79	1	0	0	0	0	0	1	0	0	3683	1066	37	1	2887	1	COL17A1	10	105813871	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12592	105813871	29720876	11374	21691											
COL17A1	1308	broad.mit.edu	37	chr10	105836072	105836072	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgataccttcatacgcatgGcgggtaacgtgagttttcct	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(316-318)cgC>cgA		collagen, type XVII, alpha 1							202	201	201					10																	105836072		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836072G>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.318C>A	10.37:g.105836072G>T						COL17A1_ENST00000369733.3_Silent_p.R106R|COL17A1_ENST00000393211.3_Silent_p.R106R	p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	608	-		Colorectal(252;0.103)|Breast(234;0.122)	106			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.318C>A	CCDS7554.1																																																																																				0.507	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		126	474	1	0	6.59513e-52	1	8.19535e-52	126	474					T	105836072	G	T	105836072	2	4	79	1	0	0	0	0	0	0	0	1	3683	1190	42	3		3	COL17A1	10	105836072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22201	105836072	29698675	11375	21692											
C10orf79	80217	broad.mit.edu	37	chr10	105927385	105927385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaatagtactttaagAcactctgcttcaatcttctt	3	8	4	1	rs373911488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105927385A>G	ENST00000278064.2	-	22	2920	c.2595T>C	c.(2593-2595)tgT>tgC	p.C865C	WDR96_ENST00000357060.3_Silent_p.C934C|WDR96_ENST00000428666.1_Silent_p.C935C																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACTTTAAGACACTCTGCTT	0.358																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2800-2802)tgT>tgC		WD repeat domain 96		A		1,4405	2.1+/-5.4	0,1,2202	93	97	95		2802	-1.7	1	10		95	0,8600		0,0,4300	no	coding-synonymous	WDR96	NM_025145.5		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		934/1666	105927385	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105927385A>G																												ENST00000278064.2:c.2595T>C	10.37:g.105927385A>G						WDR96_ENST00000428666.1_Silent_p.C935C|WDR96_ENST00000278064.2_Silent_p.C865C	p.C934C	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			22	2917	-			934						Silent	SNP	ENST00000278064.2	37	c.2802T>C		.	.	.	.	.	.	.	.	.	.	A	7.532	0.658789	0.14645	2.27E-4	0.0	ENSG00000197748	ENST00000434629	.	.	.	5.74	-1.67	0.08238	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.43766	-0.9371	4	.	.	.	.	6.5222	0.22281	0.6144:0.0:0.2743:0.1114	.	.	.	.	A	295	.	.	V	-	2	0	WDR96	105917375	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	1.070000	0.30653	-0.099000	0.12263	0.528000	0.53228	GTC		0.358	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			60	234	0	0	0	1	0	60	234					G	105927385	A	G	105927385	2	3	79	1	0	0	0	0	0	0	0	1	1623	273	10	4		4	C10orf79	10	105927385	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91313	105927385	29607362	11376	21693											
C10orf79	80217	broad.mit.edu	37	chr10	105948089	105948089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccctgcttctggaagCgaggaaagcaccatcacttc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105948089C>T	ENST00000278064.2	-	13	1744	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	WDR96_ENST00000357060.3_Silent_p.S542S|WDR96_ENST00000428666.1_Silent_p.S543S																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTGGAAGCGAGGAAAGCA	0.463																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1624-1626)tcG>tcA		WD repeat domain 96							165	135	145					10																	105948089		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105948089C>T																												ENST00000278064.2:c.1419G>A	10.37:g.105948089C>T						WDR96_ENST00000428666.1_Silent_p.S543S|WDR96_ENST00000278064.2_Silent_p.S473S	p.S542S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			13	1741	-			542						Silent	SNP	ENST00000278064.2	37	c.1626G>A																																																																																					0.463	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			55	214	0	0	0	1	0	55	214					T	105948089	C	T	105948089	2	4	79	1	0	0	0	0	0	0	0	1	1623	755	27	1		1	C10orf79	10	105948089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20704	105948089	29586658	11377	21694											
GSTO2	119391	broad.mit.edu	37	chr10	106037862	106037862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaaagatgttattggaGctattttgtaaggtatattc	9	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000338595.2	+	4	674	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_ENST00000369707.2_Silent_p.E90E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000450629.2_Silent_p.E118E|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	118	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(352-354)gaG>gaA		glutathione S-transferase omega 2	Glutathione(DB00143)						86	77	80					10																	106037862		2203	4300	6503	SO:0001819	synonymous_variant	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106037862G>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.354G>A	10.37:g.106037862G>A						GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.1_Silent_p.E90E|GSTO2_ENST00000338595.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E	p.E118E	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	4	982	+		Colorectal(252;0.178)	118			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Silent	SNP	ENST00000338595.2	37	c.354G>A	CCDS7556.1																																																																																				0.373	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		23	128	0	0	0	1	0	23	128					A	106037862	G	A	106037862	2	1	79	1	0	0	0	0	0	0	0	1	6873	962	34	2		2	GSTO2	10	106037862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89773	106037862	29496885	11378	21695											
GSTO2	119391	broad.mit.edu	37	chr10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgagccacacgccaGccctgcggctctggatatca	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000338595.2	+	7	915	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	GSTO2_ENST00000369707.2_Missense_Mutation_p.A171T|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	199	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(493-495)Gcc>Acc		glutathione S-transferase omega 2	Glutathione(DB00143)						82	80	81					10																	106058905		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106058905G>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.595G>A	10.37:g.106058905G>A	ENSP00000345023:p.Ala199Thr					GSTO2_ENST00000369707.1_Missense_Mutation_p.A171T|GSTO2_ENST00000338595.2_Missense_Mutation_p.A199T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N	p.A165T	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	6	1121	+		Colorectal(252;0.178)	199			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.493G>A	CCDS7556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578633|1.578633	0.28180|0.28180	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	D;T;D|T	0.93712|0.13657	-3.27;2.54;-3.27|2.57	6.04|6.04	-0.589|-0.589	0.11683|0.11683	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.711447|.	0.15275|.	N|.	0.271039|.	T|T	0.06735|0.06735	0.0172|0.0172	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.17465	0.0;0.0|0.022	B;B|B	0.04013|0.11329	0.001;0.001|0.006	T|T	0.43940|0.43940	-0.9360|-0.9360	10|9	0.32370|0.09843	T|T	0.25|0.71	-0.508|-0.508	3.077|3.077	0.06249|0.06249	0.416:0.0:0.2755:0.3085|0.416:0.0:0.2755:0.3085	.|.	165;199|101	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	T|N	199;199;165;171|101	ENSP00000345023:A199T;ENSP00000390986:A165T;ENSP00000358721:A171T|ENSP00000407381:S101N	ENSP00000345023:A199T|ENSP00000407381:S101N	A|S	+|+	1|2	0|0	GSTO2|GSTO2	106048895|106048895	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.866000|0.866000	0.49608|0.49608	0.981000|0.981000	0.29526|0.29526	-0.050000|-0.050000	0.13356|0.13356	0.563000|0.563000	0.77884|0.77884	GCC|AGC		0.512	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		70	350	0	0	0	1	0	70	350					A	106058905	G	A	106058905	3	1	79	1	0	0	0	0	1	0	0	0	6873	971	34	2	617	2	GSTO2	10	106058905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21043	106058905	29475842	11379	21696											
ITPRIP	85450	broad.mit.edu	37	chr10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaatcaggttgaagggCatgaacttccctgaacggaa	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000337478.1	-	2	1203	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	344						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1030-1032)atG>atA		inositol 1,4,5-trisphosphate receptor interacting protein							85	71	76					10																	106074778		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074778C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1032G>A	10.37:g.106074778C>T	ENSP00000337178:p.Met344Ile					ITPRIP_ENST00000337478.1_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I	p.M344I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1484	-			344					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1032G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908862	0.02434	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.20738	2.05;2.05;2.05	4.99	3.01	0.34805	.	0.148200	0.64402	D	0.000013	T	0.09468	0.0233	N	0.17631	0.505	0.27709	N	0.945533	B	0.06786	0.001	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-39.1216	7.4632	0.27306	0.2498:0.4072:0.343:0.0	.	344	Q8IWB1	IPRI_HUMAN	I	344	ENSP00000337178:M344I;ENSP00000278071:M344I;ENSP00000350915:M344I	ENSP00000278071:M344I	M	-	3	0	ITPRIP	106064768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.183000	0.32041	2.470000	0.83445	0.462000	0.41574	ATG		0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		85	402	0	0	0	1	0	85	402					T	106074778	C	T	106074778	3	4	79	1	0	0	0	0	1	0	0	0	7953	710	25	2	615	2	ITPRIP	10	106074778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15873	106074778	29459969	11380	21697											
ITPRIP	85450	broad.mit.edu	37	chr10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtgtcccggttgcagaGgctcctcagggcttccagca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000337478.1	-	2	703	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	178						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(532-534)Ctc>Atc		inositol 1,4,5-trisphosphate receptor interacting protein							68	73	71					10																	106075278		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075278G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.532C>A	10.37:g.106075278G>T	ENSP00000337178:p.Leu178Ile					ITPRIP_ENST00000337478.1_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I	p.L178I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	984	-			178					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.532C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	7.718	0.696517	0.15106	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23348	1.91;1.91;1.91	5.68	2.58	0.30949	.	0.274312	0.34200	N	0.004168	T	0.13329	0.0323	N	0.17082	0.46	0.23243	N	0.998052	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.29301	T	0.29	-20.4168	7.24	0.26092	0.0:0.3762:0.3913:0.2325	.	178	Q8IWB1	IPRI_HUMAN	I	178	ENSP00000337178:L178I;ENSP00000278071:L178I;ENSP00000350915:L178I	ENSP00000278071:L178I	L	-	1	0	ITPRIP	106065268	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.223000	0.42936	0.669000	0.31146	0.563000	0.77884	CTC		0.612	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		81	416	1	0	1.3515e-34	1	1.60831e-34	81	416					T	106075278	G	T	106075278	3	4	79	1	0	0	0	0	1	0	0	0	7953	1000	35	3	1115	3	ITPRIP	10	106075278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	500	106075278	29459469	11381	21698											
ITPRIP	85450	broad.mit.edu	37	chr10	106075312	106075312	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaagtcatccacgaaGccttccaggaactcccgggt	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000337478.1	-	2	669	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_ENST00000358187.2_Silent_p.G166G|ITPRIP_ENST00000278071.2_Silent_p.G166G|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	166						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(496-498)ggC>ggA		inositol 1,4,5-trisphosphate receptor interacting protein							52	56	55					10																	106075312		2202	4300	6502	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075312G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.498C>A	10.37:g.106075312G>T						ITPRIP_ENST00000337478.1_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G	p.G166G	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	950	-			166					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.498C>A	CCDS7557.1																																																																																				0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		75	387	1	0	8.27458e-37	1	9.91862e-37	75	387					T	106075312	G	T	106075312	2	4	79	1	0	0	0	0	0	0	0	1	7953	958	34	3		3	ITPRIP	10	106075312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	106075312	29459435	11382	21699											
ITPRIP	85450	broad.mit.edu	37	chr10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctcctccaggcgcAactgctccagctgcagcttc	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000337478.1	-	2	329	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	53						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(157-159)tTg>tCg		inositol 1,4,5-trisphosphate receptor interacting protein							72	71	71					10																	106075652		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075652A>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.158T>C	10.37:g.106075652A>G	ENSP00000337178:p.Leu53Ser					ITPRIP_ENST00000337478.1_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S	p.L53S	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	610	-			53					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.158T>C	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928157	0.52759	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.68	5.68	0.88126	.	0.321554	0.30051	N	0.010532	T	0.17619	0.0423	L	0.27053	0.805	0.26231	N	0.97902	D	0.63880	0.993	P	0.56216	0.794	T	0.03555	-1.1025	10	0.72032	D	0.01	-14.6649	15.9181	0.79539	1.0:0.0:0.0:0.0	.	53	Q8IWB1	IPRI_HUMAN	S	53	ENSP00000337178:L53S;ENSP00000278071:L53S;ENSP00000350915:L53S;ENSP00000414141:L53S	ENSP00000278071:L53S	L	-	2	0	ITPRIP	106065642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.161000	0.67846	0.460000	0.39030	TTG		0.672	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		125	554	0	0	0	1	0	125	554					G	106075652	A	G	106075652	3	3	79	1	0	0	0	0	1	0	0	0	7953	131	5	4	1489	4	ITPRIP	10	106075652	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340	106075652	29459095	11383	21700											
SORCS3	22986	broad.mit.edu	37	chr10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaagtatggtttcacttCggttcctctctttgttgacg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650					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)			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)		GGTTTCACTTCGGTTCCTCTC	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				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						c.(1948-1950)tCg>tTg		sortilin-related VPS10 domain containing receptor 3							239	206	217					10																	106937871		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937871C>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.1949C>T	10.37:g.106937871C>T	ENSP00000358715:p.Ser650Leu					SORCS3_ENST00000369699.4_Intron	p.S650L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2176	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	650					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1949C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756460	0.31137	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.53640	0.61;0.61	5.48	4.54	0.55810	VPS10 (1);	0.358549	0.26840	N	0.022238	T	0.42539	0.1207	M	0.62088	1.915	0.23855	N	0.996657	B	0.12630	0.006	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	.	9.5487	0.39297	0.0:0.8844:0.0:0.1156	.	650	Q9UPU3	SORC3_HUMAN	L	650;95	ENSP00000358715:S650L;ENSP00000376876:S95L	.	S	+	2	0	SORCS3	106927861	0.000000	0.05858	0.497000	0.27552	0.768000	0.43524	1.064000	0.30579	1.170000	0.42753	0.460000	0.39030	TCG		0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		49	207	0	0	0	1	0	49	207					T	106937871	C	T	106937871	3	4	79	1	0	0	0	0	1	0	0	0	14982	893	31	1	2003	1	SORCS3	10	106937871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862219	106937871	28596876	11384	21701											
SORCS3	22986	broad.mit.edu	37	chr10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatcttcagccggcattGcaccaaggaggactatcaga	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	696					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)			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)		AGCCGGCATTGCACCAAGGAG	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				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						c.(2086-2088)tGc>tAc		sortilin-related VPS10 domain containing receptor 3							130	118	122					10																	106959834		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106959834G>A	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.2087G>A	10.37:g.106959834G>A	ENSP00000358715:p.Cys696Tyr					SORCS3_ENST00000369699.4_5'UTR	p.C696Y	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	15	2314	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	696					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2087G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889213	0.91889	.	.	ENSG00000156395	ENST00000369701	T	0.44482	0.92	6.07	6.07	0.98685	VPS10 (1);	0.096778	0.64402	D	0.000001	T	0.75428	0.3848	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80341	-0.1423	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	696	Q9UPU3	SORC3_HUMAN	Y	696	ENSP00000358715:C696Y	.	C	+	2	0	SORCS3	106949824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.890000	0.99128	0.650000	0.86243	TGC		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		97	433	0	0	0	1	0	97	433					A	106959834	G	A	106959834	3	1	79	1	0	0	0	0	1	0	0	0	14982	1319	46	2	2145	2	SORCS3	10	106959834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21963	106959834	28574913	11385	21702											
SORCS3	22986	broad.mit.edu	37	chr10	106974214	106974214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttaggtatcggcggattgTgtccaacaactgcacagatg	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106974214T>C	ENST00000369701.3	+	18	2617	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	797					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)			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)		CGGCGGATTGTGTCCAACAAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				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						c.(2389-2391)gTg>gCg		sortilin-related VPS10 domain containing receptor 3							123	103	109					10																	106974214		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974214T>C	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.2390T>C	10.37:g.106974214T>C	ENSP00000358715:p.Val797Ala					SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	p.V797A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2617	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	797					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2390T>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	t	27.2	4.810777	0.90707	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.68624	-0.34;-0.34	5.89	5.89	0.94794	VPS10 (1);PKD domain (1);	0.226239	0.38492	N	0.001679	T	0.71417	0.3337	L	0.40543	1.245	0.58432	D	0.999999	D	0.56035	0.974	P	0.57101	0.813	T	0.69778	-0.5053	9	.	.	.	.	16.3122	0.82883	0.0:0.0:0.0:1.0	.	797	Q9UPU3	SORC3_HUMAN	A	797;83	ENSP00000358715:V797A;ENSP00000358713:V83A	.	V	+	2	0	SORCS3	106964204	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	4.741000	0.62095	2.251000	0.74343	0.456000	0.33151	GTG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	427	0	0	0	1	0	11	427					C	106974214	T	C	106974214	3	2	79	1	0	0	0	0	1	0	0	0	14982	1696	59	4	2460	4	SORCS3	10	106974214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14380	106974214	28560533	11386	21703											
SORCS3	22986	broad.mit.edu	37	chr10	107016608	107016608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccagtgctgggcacagCagctcagccatgcttatgct	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1123					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)			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)		CTGGGCACAGCAGCTCAGCCA	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				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						c.(3367-3369)agC>agT		sortilin-related VPS10 domain containing receptor 3							159	134	143					10																	107016608		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107016608C>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.3369C>T	10.37:g.107016608C>T							p.S1123S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	25	3596	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1123					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3369C>T	CCDS7558.1																																																																																				0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		34	157	0	0	0	1	0	34	157					T	107016608	C	T	107016608	2	4	79	1	0	0	0	0	0	0	0	1	14982	709	25	2		2	SORCS3	10	107016608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42394	107016608	28518139	11387	21704											
SORCS1	114815	broad.mit.edu	37	chr10	108923970	108923970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccgtctcctccggccGgagcgtgcagcaaccgccat	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	105					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.S105S(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTCCGGCCGGAGCGTGCAG	0.701																																						ENST00000263054.6																			2	Substitution - coding silent(2)	p.S105S(2)	endometrium(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(313-315)tcC>tcT		sortilin-related VPS10 domain containing receptor 1							17	18	18					10																	108923970		2199	4297	6496	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923970G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.315C>T	10.37:g.108923970G>A						SORCS1_ENST00000344440.6_Silent_p.S105S	p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	322	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	105					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.315C>T	CCDS7559.1																																																																																				0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		37	139	0	0	0	1	0	37	139					A	108923970	G	A	108923970	2	1	79	1	0	0	0	0	0	0	0	1	14980	1103	39	1		1	SORCS1	10	108923970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907362	108923970	26610777	11388	21705											
ADD3	120	broad.mit.edu	37	chr10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaagctacagcctccAatttggtataattttccatt	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000356080.4	+	5	929	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000277900.8_Missense_Mutation_p.N188D	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	188						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(562-564)Aat>Gat		adducin 3 (gamma)							77	75	76					10																	111877175		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111877175A>G	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.562A>G	10.37:g.111877175A>G	ENSP00000348381:p.Asn188Asp					ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.N188D	p.N188D	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	5	927	+		Breast(234;0.052)|Lung NSC(174;0.223)	188					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.562A>G	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748606	0.89753	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.15603	2.41;2.41;2.41	5.8	4.65	0.58169	Class II aldolase/adducin, N-terminal (3);	0.168597	0.64402	D	0.000006	T	0.22437	0.0541	L	0.33668	1.02	0.42578	D	0.993209	P;P	0.36712	0.466;0.566	P;B	0.47864	0.559;0.423	T	0.02917	-1.1094	10	0.87932	D	0	-7.4886	12.0599	0.53557	0.9321:0.0:0.0679:0.0	.	188;188	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	D	188	ENSP00000353286:N188D;ENSP00000348381:N188D;ENSP00000277900:N188D	ENSP00000277900:N188D	N	+	1	0	ADD3	111867165	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.268000	0.78473	0.982000	0.38575	0.533000	0.62120	AAT		0.368	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		40	177	0	0	0	1	0	40	177					G	111877175	A	G	111877175	3	3	79	1	0	0	0	0	1	0	0	0	306	130	5	4	576	4	ADD3	10	111877175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2953205	111877175	23657572	11389	21706											
SMC3	9126	broad.mit.edu	37	chr10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagggttttcgaagttacaGagatcaaacaattgtagatc	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	15					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGAAGTTACAGAGATCAAACA	0.313																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(43-45)aGa>aTa		structural maintenance of chromosomes 3							165	163	164					10																	112328724		2203	4298	6501	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112328724G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.44G>T	10.37:g.112328724G>T	ENSP00000354720:p.Arg15Ile					SMC3_ENST00000462899.1_3'UTR	p.R15I	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	2	170	+		Breast(234;0.0848)|Lung NSC(174;0.238)	15					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.44G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193181	0.94960	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95983	0.8979	10	0.56958	D	0.05	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	15	Q9UQE7	SMC3_HUMAN	I	15	ENSP00000354720:R15I	ENSP00000354720:R15I	R	+	2	0	SMC3	112318714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.587000	0.87381	0.563000	0.77884	AGA		0.313	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		47	266	1	0	4.1673e-28	1	4.84001e-28	47	266					T	112328724	G	T	112328724	3	4	79	1	0	0	0	0	1	0	0	0	14834	942	33	3	50	3	SMC3	10	112328724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	451549	112328724	23206023	11390	21707											
SMC3	9126	broad.mit.edu	37	chr10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagtttagtcatcttcGtccagaacagcggttggctt	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	57					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCATCTTCGTCCAGAACAG	0.299																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(169-171)cGt>cAt		structural maintenance of chromosomes 3							134	130	132					10																	112335133		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335133G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.170G>A	10.37:g.112335133G>A	ENSP00000354720:p.Arg57His					SMC3_ENST00000462899.1_3'UTR	p.R57H	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	296	+		Breast(234;0.0848)|Lung NSC(174;0.238)	57					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.170G>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823357	0.90873	.	.	ENSG00000108055	ENST00000361804	T	0.77229	-1.08	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.050875	0.85682	D	0.000000	D	0.89522	0.6739	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90974	0.4822	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.1307:0.8693:0.0	.	57	Q9UQE7	SMC3_HUMAN	H	57	ENSP00000354720:R57H	ENSP00000354720:R57H	R	+	2	0	SMC3	112325123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.677000	0.91161	0.467000	0.42956	CGT		0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		18	252	0	0	0	1	0	18	252					A	112335133	G	A	112335133	3	1	79	1	0	0	0	0	1	0	0	0	14834	1145	40	1	184	1	SMC3	10	112335133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6409	112335133	23199614	11391	21708											
SHOC2	8036	broad.mit.edu	37	chr10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatcgtataactactgtgGaaaaggacatcaaaaacttg	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	208					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTACTGTGGAAAAGGACAT	0.378																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(622-624)Gaa>Aaa		soc-2 suppressor of clear homolog (C. elegans)							74	75	75					10																	112724738		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724738G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.622G>A	10.37:g.112724738G>A	ENSP00000358464:p.Glu208Lys					SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	p.E208K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	967	+			208					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.622G>A	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483696	0.63962	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.79653	1.83;1.85;-1.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	N	0.08118	0	0.80722	D	1	D;B	0.56035	0.974;0.016	D;B	0.70487	0.969;0.007	D	0.85741	0.1337	10	0.87932	D	0	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	208;208	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	K	208;208;44	ENSP00000265277:E208K;ENSP00000358464:E208K;ENSP00000408275:E44K	ENSP00000265277:E208K	E	+	1	0	SHOC2	112714728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.665000	0.90641	0.561000	0.74099	GAA		0.378	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		64	344	0	0	0	1	0	64	344					A	112724738	G	A	112724738	3	1	79	1	0	0	0	0	1	0	0	0	14337	1175	41	2	624	2	SHOC2	10	112724738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389605	112724738	22810009	11392	21709											
SHOC2	8036	broad.mit.edu	37	chr10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatgcagggtccatatcGtgccatggtctgatataaat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	579					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GGTCCATATCGTGCCATGGTC	0.398																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(1735-1737)cGt>cAt		soc-2 suppressor of clear homolog (C. elegans)							70	69	70					10																	112771563		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112771563G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1736G>A	10.37:g.112771563G>A	ENSP00000358464:p.Arg579His					SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	p.R579H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	9	2081	+			579					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.1736G>A	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703277	0.68501	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.39229	1.48;1.09;1.37	5.64	4.74	0.60224	.	0.045276	0.85682	N	0.000000	T	0.58323	0.2114	L	0.49126	1.545	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.74023	0.002;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	.	14.7556	0.69560	0.07:0.0:0.93:0.0	.	533;579	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	533;579;369	ENSP00000265277:R533H;ENSP00000358464:R579H;ENSP00000408275:R369H	ENSP00000265277:R533H	R	+	2	0	SHOC2	112761553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	1.369000	0.46134	0.655000	0.94253	CGT		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		64	289	0	0	0	1	0	64	289					A	112771563	G	A	112771563	3	1	79	1	0	0	0	0	1	0	0	0	14337	1145	40	1	1766	1	SHOC2	10	112771563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46825	112771563	22763184	11393	21710											
ADRA2A	150	broad.mit.edu	37	chr10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaattcttcttctggttcGgctactgcaacagctcgttg	8	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	415					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGGTTCGGCTACTGCAA	0.572																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1288-1290)Ggc>Agc		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						144	128	134					10																	112839042		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112839042G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1288G>A	10.37:g.112839042G>A	ENSP00000280155:p.Gly430Ser						p.G430S	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2253	+		Breast(234;0.0735)|Lung NSC(174;0.238)	415					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1288G>A	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756472	0.89843	.	.	ENSG00000150594	ENST00000280155	T	0.36157	1.27	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.60676	0.2287	M	0.90814	3.15	0.58432	D	0.999999	D	0.61697	0.99	P	0.55615	0.78	T	0.73943	-0.3823	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	415	P08913	ADA2A_HUMAN	S	430	ENSP00000280155:G430S	ENSP00000280155:G430S	G	+	1	0	ADRA2A	112829032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.350000	0.97070	1.936000	0.56123	0.462000	0.41574	GGC		0.572	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		142	665	0	0	0	1	0	142	665					A	112839042	G	A	112839042	3	1	79	1	0	0	0	0	1	0	0	0	337	1116	39	1	1290	1	ADRA2A	10	112839042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67479	112839042	22695705	11394	21711											
GPAM	57678	broad.mit.edu	37	chr10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaagactaggactgatatCttcctggtcatcgtgctagg	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	666					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGACTGATATCTTCCTGGTCA	0.483																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1996-1998)Gat>Tat		glycerol-3-phosphate acyltransferase, mitochondrial							119	98	105					10																	113917132		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113917132C>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1996G>T	10.37:g.113917132C>A	ENSP00000265276:p.Asp666Tyr					GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y	p.D666Y			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	19	2193	-			666					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1996G>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798844	0.90538	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69806	-0.43;-0.43;-0.42	5.63	5.63	0.86233	.	0.163773	0.53938	D	0.000052	T	0.76513	0.3998	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.888	T	0.73014	-0.4116	10	0.35671	T	0.21	-16.7223	18.2342	0.89944	0.0:1.0:0.0:0.0	.	666;666	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	666	ENSP00000265276:D666Y;ENSP00000409242:D666Y;ENSP00000358433:D666Y	ENSP00000265276:D666Y	D	-	1	0	GPAM	113907122	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	GAT		0.483	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		56	233	1	0	4.88482e-21	1	5.49248e-21	56	233					A	113917132	C	A	113917132	3	1	79	1	0	0	0	0	1	0	0	0	6617	913	32	3	506	3	GPAM	10	113917132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1078090	113917132	21617615	11395	21712											
GPAM	57678	broad.mit.edu	37	chr10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtccatctggtgtttcatCgagccttcgtcgtatgaaga	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	281					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGTGTTTCATCGAGCCTTCGT	0.373																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(841-843)Gat>Aat		glycerol-3-phosphate acyltransferase, mitochondrial							133	126	128					10																	113928664		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928664C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.841G>A	10.37:g.113928664C>T	ENSP00000265276:p.Asp281Asn					GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N	p.D281N			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1038	-			281					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.841G>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640772	0.67244	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.050745	0.85682	D	0.000000	D	0.93184	0.7829	L	0.31065	0.9	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.83	D	0.92607	0.6096	10	0.40728	T	0.16	-26.5966	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	281;281	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	281	ENSP00000265276:D281N;ENSP00000409242:D281N;ENSP00000358433:D281N	ENSP00000265276:D281N	D	-	1	0	GPAM	113918654	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	5.084000	0.64462	2.620000	0.88729	0.643000	0.83706	GAT		0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		67	329	0	0	0	1	0	67	329					T	113928664	C	T	113928664	3	4	79	1	0	0	0	0	1	0	0	0	6617	884	31	1	1697	1	GPAM	10	113928664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11532	113928664	21606083	11396	21713											
GPAM	57678	broad.mit.edu	37	chr10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaacccaaagacgggAtactggggttgaaaaatttg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T|GPAM_ENST00000480130.1_5'Flank			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	83					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGACGGGATACTGGGGTT	0.308																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(247-249)aTc>aCc		glycerol-3-phosphate acyltransferase, mitochondrial							45	50	48					10																	113937793		2203	4297	6500	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113937793A>G	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.248T>C	10.37:g.113937793A>G	ENSP00000265276:p.Ile83Thr					GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T	p.I83T			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	5	445	-			83					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.248T>C	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010639	0.75046	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.40756	1.02;1.02;1.02	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.55213	1.73	0.58432	D	0.999998	D;D	0.71674	0.981;0.998	D;D	0.76071	0.966;0.987	T	0.50659	-0.8802	10	0.09843	T	0.71	-21.1449	15.1293	0.72511	1.0:0.0:0.0:0.0	.	83;83	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	T	83	ENSP00000265276:I83T;ENSP00000409242:I83T;ENSP00000358433:I83T	ENSP00000265276:I83T	I	-	2	0	GPAM	113927783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.603000	0.90871	2.044000	0.60594	0.528000	0.53228	ATC		0.308	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		40	189	0	0	0	1	0	40	189					G	113937793	A	G	113937793	3	3	79	1	0	0	0	0	1	0	0	0	6617	333	12	4	2310	4	GPAM	10	113937793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9129	113937793	21596954	11397	21714											
TECTB	6975	broad.mit.edu	37	chr10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaggagtggaagccaaaGggttaagcattaggtaagta	14	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	192	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAAGCCAAAGGGTTAAGCAT	0.388																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(574-576)Ggg>Tgg		tectorin beta							150	150	150					10																	114053586		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053586G>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.574G>T	10.37:g.114053586G>T	ENSP00000358430:p.Gly192Trp						p.G192W	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	5	574	+		Colorectal(252;0.198)	192			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.574G>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178868	0.78564	.	.	ENSG00000119913	ENST00000369422	D	0.82526	-1.62	5.97	5.97	0.96955	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.166094	0.53938	D	0.000052	D	0.90215	0.6941	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.90484	0.4462	10	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	192	Q96PL2	TECTB_HUMAN	W	192	ENSP00000358430:G192W	ENSP00000358430:G192W	G	+	1	0	TECTB	114043576	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.328000	0.90014	2.836000	0.97738	0.655000	0.94253	GGG		0.388	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		51	224	1	0	1.0442e-30	1	1.22599e-30	51	224					T	114053586	G	T	114053586	3	4	79	1	0	0	0	0	1	0	0	0	15800	1000	35	3	592	3	TECTB	10	114053586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115793	114053586	21481161	11398	21715											
TECTB	6975	broad.mit.edu	37	chr10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaacagctgttgggccaCcccctcggctgacttcatgt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	207	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTTGGGCCACCCCCTCGGCT	0.448																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(619-621)aCc>aTc		tectorin beta							101	100	100					10																	114053768		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053768C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.620C>T	10.37:g.114053768C>T	ENSP00000358430:p.Thr207Ile						p.T207I	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	6	620	+		Colorectal(252;0.198)	207			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.620C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960388	0.92791	.	.	ENSG00000119913	ENST00000369422	D	0.86097	-2.07	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.102794	0.64402	D	0.000003	D	0.93478	0.7919	M	0.88241	2.94	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.94079	0.7342	10	0.87932	D	0	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	207	Q96PL2	TECTB_HUMAN	I	207	ENSP00000358430:T207I	ENSP00000358430:T207I	T	+	2	0	TECTB	114043758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	ACC		0.448	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		46	208	0	0	0	1	0	46	208					T	114053768	C	T	114053768	3	4	79	1	0	0	0	0	1	0	0	0	15800	507	18	2	642	2	TECTB	10	114053768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	114053768	21480979	11399	21716											
TECTB	6975	broad.mit.edu	37	chr10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccaattcaatgctttcCggttccagaacatccccaaa	4	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	250	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGCTTTCCGGTTCCAGAA	0.537																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(748-750)Cgg>Tgg		tectorin beta							132	119	123					10																	114057903		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114057903C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.748C>T	10.37:g.114057903C>T	ENSP00000358430:p.Arg250Trp						p.R250W	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	7	748	+		Colorectal(252;0.198)	250			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.748C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191743	0.94923	.	.	ENSG00000119913	ENST00000369422	D	0.84370	-1.84	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.72032	D	0.01	-24.7951	20.5666	0.99351	0.0:1.0:0.0:0.0	.	250	Q96PL2	TECTB_HUMAN	W	250	ENSP00000358430:R250W	ENSP00000358430:R250W	R	+	1	2	TECTB	114047893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.575000	0.74018	2.854000	0.98071	0.655000	0.94253	CGG		0.537	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		60	267	0	0	0	1	0	60	267					T	114057903	C	T	114057903	3	4	79	1	0	0	0	0	1	0	0	0	15800	643	23	1	774	1	TECTB	10	114057903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4135	114057903	21476844	11400	21717											
ACSL5	51703	broad.mit.edu	37	chr10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctccagcctcctagcccaGaagacctgagcgtcatctgc	8	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|RP11-324O2.6_ENST00000424422.1_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	253					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(757-759)Gaa>Aaa		acyl-CoA synthetase long-chain family member 5							95	80	85					10																	114170354		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114170354G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.757G>A	10.37:g.114170354G>A	ENSP00000376796:p.Glu253Lys					ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K	p.E253K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	9	1064	+		Colorectal(252;0.117)|Breast(234;0.222)	253					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.757G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338077	0.60963	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.39	4.48	0.54585	AMP-dependent synthetase/ligase (1);	0.386932	0.31051	N	0.008355	T	0.16811	0.0404	M	0.71036	2.16	0.58432	D	0.999993	B;B;B;B	0.19073	0.01;0.033;0.016;0.019	B;B;B;B	0.23150	0.044;0.033;0.03;0.029	T	0.03095	-1.1073	10	0.49607	T	0.09	-19.5706	8.8461	0.35170	0.1669:0.0:0.8331:0.0	.	35;253;309;253	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	K	253;253;309;253;253;35	ENSP00000346680:E253K;ENSP00000376796:E253K;ENSP00000348429:E309K;ENSP00000403647:E253K;ENSP00000346223:E253K;ENSP00000358418:E35K	ENSP00000346223:E253K	E	+	1	0	ACSL5	114160344	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.136000	0.64783	2.524000	0.85096	0.655000	0.94253	GAA		0.502	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		29	153	0	0	0	1	0	29	153					A	114170354	G	A	114170354	3	1	79	1	0	0	0	0	1	0	0	0	180	943	33	2	959	2	ACSL5	10	114170354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112451	114170354	21364393	11401	21718											
ZDHHC6	64429	broad.mit.edu	37	chr10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgttttaacagcagctatCtatttttcttctccccctct	3	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K|ZDHHC6_ENST00000482410.1_Intron	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	413					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CAGCAGCTATCTATTTTTCTT	0.373																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1237-1239)aGa>aAa		zinc finger, DHHC-type containing 6							86	84	84					10																	114190566		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114190566C>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1238G>A	10.37:g.114190566C>T	ENSP00000358413:p.Arg413Lys					ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	p.R413K	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	11	1661	-		Colorectal(252;0.198)	413					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.1238G>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260108	0.39995	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64803	0.62;-0.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39633	1.23	0.40040	D	0.975638	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.46843	-0.9162	10	0.27785	T	0.31	-1.2885	15.0839	0.72135	0.0:0.93:0.0:0.07	.	409;413	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	413;409	ENSP00000358413:R413K;ENSP00000358412:R409K	ENSP00000358412:R409K	R	-	2	0	ZDHHC6	114180556	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.275000	0.51639	2.785000	0.95823	0.650000	0.86243	AGA		0.373	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		48	284	0	0	0	1	0	48	284					T	114190566	C	T	114190566	3	4	79	1	0	0	0	0	1	0	0	0	17672	913	32	2	7	2	ZDHHC6	10	114190566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20212	114190566	21344181	11402	21719											
VTI1A	143187	broad.mit.edu	37	chr10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctagaatcatccagaacCgcatcctgctcgtcatccta	5	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	192					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(574-576)Cgc>Tgc		vesicle transport through interaction with t-SNAREs 1A							144	138	140					10																	114575062		2057	4191	6248	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114575062C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.574C>T	10.37:g.114575062C>T	ENSP00000376792:p.Arg192Cys						p.R192C	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	8	690	+		Colorectal(252;0.0314)|Breast(234;0.183)	0					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.574C>T	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605788	0.87157	.	.	ENSG00000151532	ENST00000393077	.	.	.	6.02	6.02	0.97574	.	3.193000	0.00659	N	0.000585	D	0.86961	0.6059	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71882	-0.4458	9	0.87932	D	0	-49.539	20.5407	0.99260	0.0:1.0:0.0:0.0	.	192	Q5W0D7	.	C	192	.	ENSP00000376792:R192C	R	+	1	0	VTI1A	114565052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CGC		0.493	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			68	281	0	0	0	1	0	68	281					T	114575062	C	T	114575062	3	4	79	1	0	0	0	0	1	0	0	0	17289	652	23	1	604	1	VTI1A	10	114575062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384496	114575062	20959685	11403	21720											
TCF7L2	6934	broad.mit.edu	37	chr10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttttttttcagaacAcagcgaatgtttcctaaatc	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000355995.4	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	441					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTTCAGAACACAGCGAATGT	0.338			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1321-1323)cAc>cGc		transcription factor 7-like 2 (T-cell specific, HMG-box)							101	97	98					10																	114918429		2202	4299	6501	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114918429A>G	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1322A>G	10.37:g.114918429A>G	ENSP00000348274:p.His441Arg					TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R	p.H441R			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	13	1829	+		Breast(234;0.058)|Colorectal(252;0.0615)	441					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1322A>G		.	.	.	.	.	.	.	.	.	.	a	8.094	0.775101	0.16051	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99150	-4.91;-4.91;-5.49;-5.49;-4.91;-5.48;-4.93	5.67	5.67	0.87782	.	0.113107	0.64402	D	0.000020	D	0.98830	0.9605	L	0.53249	1.67	0.80722	D	1	P;B;B;B;P;B;D;D;B;D;B;D	0.58970	0.932;0.0;0.0;0.0;0.932;0.0;0.973;0.984;0.0;0.973;0.013;0.973	P;B;B;B;P;B;D;D;B;D;B;D	0.69479	0.84;0.0;0.0;0.001;0.888;0.001;0.921;0.964;0.0;0.921;0.014;0.921	D	0.99795	1.1033	10	0.25751	T	0.34	-14.8426	15.9154	0.79512	1.0:0.0:0.0:0.0	.	298;258;340;441;312;356;414;418;418;423;414;418	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	R	441;441;441;441;418;418;157	ENSP00000348274:H441R;ENSP00000440547:H441R;ENSP00000446172:H441R;ENSP00000443626:H441R;ENSP00000358404:H418R;ENSP00000344823:H418R;ENSP00000443883:H157R	ENSP00000344823:H418R	H	+	2	0	TCF7L2	114908419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.178000	0.69098	0.533000	0.62120	CAC		0.338	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		54	256	0	0	0	1	0	54	256					G	114918429	A	G	114918429	3	3	79	1	0	0	0	0	1	0	0	0	15750	159	6	4	1517	4	TCF7L2	10	114918429	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	343367	114918429	20616318	11404	21721											
HABP2	3026	broad.mit.edu	37	chr10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtgcaactcccgccAactctatgaccacatgattg	6	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	481	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000250}.			cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AACTCCCGCCAACTCTATGAC	0.512																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1441-1443)cAa>cCa		hyaluronan binding protein 2							110	91	98					10																	115345621		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115345621A>C		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1442A>C	10.37:g.115345621A>C	ENSP00000277903:p.Gln481Pro					HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	p.Q481P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	12	1538	+		Colorectal(252;0.0233)|Breast(234;0.0672)	481			Peptidase S1.	Cleavage (By similarity).	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.1442A>C	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807505	0.31961	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88277	-2.36;-2.35	6.03	-4.73	0.03259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.624330	0.02695	N	0.111065	D	0.83064	0.5173	N	0.12746	0.255	0.09310	N	1	P	0.44877	0.845	P	0.44811	0.461	T	0.73575	-0.3939	10	0.45353	T	0.12	.	16.0541	0.80782	0.6114:0.0:0.3886:0.0	.	481	Q14520	HABP2_HUMAN	P	455;481	ENSP00000443283:Q455P;ENSP00000277903:Q481P	ENSP00000277903:Q481P	Q	+	2	0	HABP2	115335611	0.000000	0.05858	0.016000	0.15963	0.202000	0.24057	-1.183000	0.03079	-0.637000	0.05516	-1.000000	0.02509	CAA		0.512	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		67	218	0	0	0	1	0	67	218					C	115345621	A	C	115345621	3	2	79	1	0	0	0	0	1	0	0	0	6968	130	5	4	1488	4	HABP2	10	115345621	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427192	115345621	20189126	11405	21722											
NRAP	4892	broad.mit.edu	37	chr10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcgcattgaggcgagCtcgggtgaaatcgggatggt	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000359988.3	-	38	4751	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGAGGCGAGCTCGGGTGAAA	0.502																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4531-4533)Gct>Act		nebulin-related anchoring protein							170	145	153					10																	115355411		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115355411C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4507G>A	10.37:g.115355411C>T	ENSP00000353078:p.Ala1503Thr					NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000359988.3_Missense_Mutation_p.A1503T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T	p.A1511T			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	38	4775	-		Colorectal(252;0.0233)|Breast(234;0.188)	1503						Missense_Mutation	SNP	ENST00000359988.3	37	c.4531G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770003	0.90020	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.88105	2.93	0.43334	D	0.99537	D;D;D;D	0.89917	1.0;0.977;0.984;0.987	D;D;D;D	0.91635	0.999;0.925;0.915;0.949	D	0.86933	0.2074	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	661;1503;1468;1503	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1511;1476;1503;1468;661	ENSP00000358365:A1511T;ENSP00000358367:A1476T;ENSP00000353078:A1503T;ENSP00000353666:A1468T	ENSP00000353078:A1503T	A	-	1	0	NRAP	115345401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	GCT		0.502	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		80	347	0	0	0	1	0	80	347					T	115355411	C	T	115355411	3	4	79	1	0	0	0	0	1	0	0	0	10680	797	28	2	705	2	NRAP	10	115355411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9790	115355411	20179336	11406	21723											
NRAP	4892	broad.mit.edu	37	chr10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacatcactggctatatctCcagaggcccgggcagcctgg	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000359988.3	-	34	4143	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTATATCTCCAGAGGCCCG	0.458																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3922-3924)gGa>gTa		nebulin-related anchoring protein							298	311	306					10																	115365537		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365537C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3899G>T	10.37:g.115365537C>A	ENSP00000353078:p.Gly1300Val					NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000359988.3_Missense_Mutation_p.G1300V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V	p.G1308V			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	34	4167	-		Colorectal(252;0.0233)|Breast(234;0.188)	1300						Missense_Mutation	SNP	ENST00000359988.3	37	c.3923G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893655	0.33442	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16324	2.56;2.56;2.44;2.35	5.24	5.24	0.73138	.	0.298590	0.37483	N	0.002077	T	0.20251	0.0487	L	0.46157	1.445	0.53005	D	0.999964	B;P;B	0.34462	0.325;0.454;0.325	B;B;B	0.38985	0.15;0.287;0.15	T	0.01729	-1.1286	10	0.34782	T	0.22	.	14.7668	0.69646	0.0:0.8558:0.1442:0.0	.	1300;1265;1300	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1308;1273;1300;1265	ENSP00000358365:G1308V;ENSP00000358367:G1273V;ENSP00000353078:G1300V;ENSP00000353666:G1265V	ENSP00000353078:G1300V	G	-	2	0	NRAP	115355527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.155000	0.50700	2.622000	0.88805	0.555000	0.69702	GGA		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		391	1832	1	0	2.62042e-76	1	3.34351e-76	391	1832					A	115365537	C	A	115365537	3	1	79	1	0	0	0	0	1	0	0	0	10680	855	30	3	1329	3	NRAP	10	115365537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	115365537	20169210	11407	21724											
NRAP	4892	broad.mit.edu	37	chr10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggagctgtcggtcAcgctggtgaacttcagctca	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000359988.3	-	21	2433	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTGTCGGTCACGCTGGTGAA	0.577																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2212-2214)gTg>gCg		nebulin-related anchoring protein							105	79	88					10																	115385861		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115385861A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2189T>C	10.37:g.115385861A>G	ENSP00000353078:p.Val730Ala					NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000359988.3_Missense_Mutation_p.V730A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A	p.V738A			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	21	2457	-		Colorectal(252;0.0233)|Breast(234;0.188)	730						Missense_Mutation	SNP	ENST00000359988.3	37	c.2213T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719256	0.89205	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.77486	2.375	0.52501	D	0.999958	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.99;0.984	T	0.65928	-0.6049	10	0.62326	D	0.03	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	410;730;695;730	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	A	738;703;730;695;410	ENSP00000358365:V738A;ENSP00000358367:V703A;ENSP00000353078:V730A;ENSP00000353666:V695A	ENSP00000353078:V730A	V	-	2	0	NRAP	115375851	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.949000	0.87791	2.291000	0.77112	0.533000	0.62120	GTG		0.577	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		19	85	0	0	0	1	0	19	85					G	115385861	A	G	115385861	3	3	79	1	0	0	0	0	1	0	0	0	10680	159	6	4	3091	4	NRAP	10	115385861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20324	115385861	20148886	11408	21725											
CASP7	840	broad.mit.edu	37	chr10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccatggagaagaaaatGtaatttatgggaaagatggt	12	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000345633.4	+	6	829	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	149					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(544-546)Gta>Ata		caspase 7, apoptosis-related cysteine peptidase							68	69	69					10																	115485189		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115485189G>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.445G>A	10.37:g.115485189G>A	ENSP00000298701:p.Val149Ile					CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000345633.4_Missense_Mutation_p.V149I	p.V182I	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	864	+		Colorectal(252;0.0946)|Breast(234;0.188)	149					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.544G>A	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.498|8.498	0.863645|0.863645	0.17250|0.17250	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	.|T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56	5.68|5.68	-4.79|-4.79	0.03200|0.03200	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.614966	.|0.17679	.|N	.|0.165713	.|T	.|0.16085	.|0.0387	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22346	.|0.049;0.009;0.068;0.044	.|B;B;B;B	.|0.17722	.|0.012;0.017;0.011;0.019	.|T	.|0.33007	.|-0.9885	.|10	.|0.13470	.|T	.|0.59	.|.	9.6905|9.6905	0.40125|0.40125	0.0:0.517:0.2157:0.2673|0.0:0.517:0.2157:0.2673	.|.	.|124;157;182;149	.|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	.|I	-1|149;182;149;149;149;124	.|ENSP00000400094:V149I;ENSP00000358327:V182I;ENSP00000298701:V149I;ENSP00000358324:V149I;ENSP00000358321:V149I;ENSP00000398107:V124I	.|ENSP00000298701:V149I	.|V	+|+	.|1	.|0	CASP7|CASP7	115475179|115475179	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.849000|0.849000	0.48306|0.48306	-0.444000|-0.444000	0.06854|0.06854	-0.821000|-0.821000	0.04312|0.04312	-1.245000|-1.245000	0.01525|0.01525	.|GTA		0.418	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		50	255	0	0	0	1	0	50	255					A	115485189	G	A	115485189	3	1	79	1	0	0	0	0	1	0	0	0	2683	1391	48	2	562	2	CASP7	10	115485189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99328	115485189	20049558	11409	21726											
C10orf81	79949	broad.mit.edu	37	chr10	115527167	115527167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatctgtgcagaagatgttTaaatgccaccctgatgaggt	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115527167T>G	ENST00000369310.3	+	4	832	c.270T>G	c.(268-270)ttT>ttG	p.F90L	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.F96L|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F8L	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	90	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.																AGAAGATGTTTAAATGCCACC	0.398																																						ENST00000361048.1																			0											c.(286-288)ttT>ttG		pleckstrin homology domain containing, family S member 1							96	94	95					10																	115527167		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115527167T>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.270T>G	10.37:g.115527167T>G	ENSP00000358316:p.Phe90Leu					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F8L|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F90L	p.F96L	NM_024889.4	NP_079165.3					5	615	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.288T>G	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717869	0.68844	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.30714	1.52;1.52;1.52	5.74	2.19	0.27852	.	0.121823	0.56097	D	0.000026	T	0.51329	0.1668	M	0.79926	2.475	0.29865	N	0.827301	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.49872	-0.8893	10	0.45353	T	0.12	-29.0525	7.7468	0.28873	0.0:0.241:0.0:0.759	.	90;90;96	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	L	96;8;90	ENSP00000354332:F96L;ENSP00000358318:F8L;ENSP00000358316:F90L	ENSP00000354332:F96L	F	+	3	2	C10orf81	115517157	0.983000	0.35010	0.995000	0.50966	0.907000	0.53573	-0.075000	0.11431	0.133000	0.18654	-0.290000	0.09829	TTT		0.398	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		28	104	0	0	0	1	0	28	104					G	115527167	T	G	115527167	3	3	79	1	0	0	0	0	1	0	0	0	1624	1751	61	4	302	4	C10orf81	10	115527167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41978	115527167	20007580	11410	21727											
NHLRC2	374354	broad.mit.edu	37	chr10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagataaattatttttatAtacttcaattgctttaaagt	3	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.									breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(568-570)tAt>tGt		NHL repeat containing 2							54	59	57					10																	115636517		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115636517A>G	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.569A>G	10.37:g.115636517A>G	ENSP00000358307:p.Tyr190Cys						p.Y190C	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	3	781	+			190			Thioredoxin.		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.569A>G	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359605	0.61403	.	.	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.61	2.91	0.33838	Thioredoxin-like fold (2);	0.057252	0.64402	D	0.000001	T	0.39489	0.1080	L	0.41492	1.28	0.43819	D	0.996381	D	0.62365	0.991	P	0.50231	0.635	T	0.16689	-1.0394	10	0.46703	T	0.11	-11.2129	8.6969	0.34301	0.5125:0.0:0.0:0.4875	.	190	Q8NBF2	NHLC2_HUMAN	C	190	ENSP00000358307:Y190C	ENSP00000358307:Y190C	Y	+	2	0	NHLRC2	115626507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.032000	0.39892	-0.341000	0.08007	TAT		0.353	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		91	357	0	0	0	1	0	91	357					G	115636517	A	G	115636517	3	3	79	1	0	0	0	0	1	0	0	0	10448	449	16	4	579	4	NHLRC2	10	115636517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109350	115636517	19898230	11411	21728											
ADRB1	153	broad.mit.edu	37	chr10	115805121	115805121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacggagaccggccgcgCgcctcgggctgtctggcccg	15	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	ENST00000369295.2	+	1	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCGGCCGCGCGCCTCGGGCT	0.796																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1228-1230)cgC>cgT		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						3	4	3					10																	115805121		1159	2281	3440	SO:0001819	synonymous_variant	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115805121C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1230C>T	10.37:g.115805121C>T							p.R410R	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1316	+		Colorectal(252;0.172)|Breast(234;0.188)	410					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	c.1230C>T	CCDS7586.1																																																																																				0.796	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			10	33	0	0	0	1	0	10	33					T	115805121	C	T	115805121	2	4	79	1	0	0	0	0	0	0	0	1	340	755	27	1		1	ADRB1	10	115805121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168604	115805121	19729626	11412	21729											
C10orf118	55088	broad.mit.edu	37	chr10	115884935	115884935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctgttctagttcatgCtggtgtttaataagacgttc	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		888										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTAGTTCATGCTGGTGTTTAA	0.383																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2662-2664)caG>caA		chromosome 10 open reading frame 118							239	203	215					10																	115884935		2202	4299	6501	SO:0001819	synonymous_variant	55088							g.chr10:115884935C>T																												ENST00000369287.3:c.2664G>A	10.37:g.115884935C>T						C10orf118_ENST00000543782.1_3'UTR	p.Q888Q	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	16	2930	-		Colorectal(252;0.172)|Breast(234;0.188)	888					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	c.2664G>A	CCDS7587.1																																																																																				0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			9	188	0	0	0	1	0	9	188					T	115884935	C	T	115884935	2	4	79	1	0	0	0	0	0	0	0	1	1592	796	28	2		2	C10orf118	10	115884935	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79814	115884935	19649812	11413	21730											
C10orf118	55088	broad.mit.edu	37	chr10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggaaagttatccacaGctactgaggacccagtattt	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2245-2247)gCt>gTt		chromosome 10 open reading frame 118							126	114	118					10																	115887367		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115887367G>A																												ENST00000369287.3:c.2246C>T	10.37:g.115887367G>A	ENSP00000358293:p.Ala749Val					C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V	p.A749V	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	14	2512	-		Colorectal(252;0.172)|Breast(234;0.188)	749					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2246C>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047970	0.36085	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.24908	1.83	4.89	3.98	0.46160	.	0.247634	0.40640	N	0.001059	T	0.13072	0.0317	N	0.10874	0.06	0.36466	D	0.866974	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.13361	-1.0512	10	0.26408	T	0.33	.	10.9391	0.47262	0.087:0.0:0.913:0.0	.	347;749	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	V	749;347;855	ENSP00000358293:A749V	ENSP00000358293:A749V	A	-	2	0	C10orf118	115877357	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	6.082000	0.71318	2.251000	0.74343	0.549000	0.68633	GCT		0.403	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			40	260	0	0	0	1	0	40	260					A	115887367	G	A	115887367	3	1	79	1	0	0	0	0	1	0	0	0	1592	971	34	2	462	2	C10orf118	10	115887367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2432	115887367	19647380	11414	21731											
C10orf118	55088	broad.mit.edu	37	chr10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttaatgtcttcctttaatTtgtctatttctctgatgagt	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(1138-1140)aAa>aCa		chromosome 10 open reading frame 118							196	181	186					10																	115904338		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115904338T>G																												ENST00000369287.3:c.1139A>C	10.37:g.115904338T>G	ENSP00000358293:p.Lys380Thr					C10orf118_ENST00000543782.1_5'UTR	p.K380T	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	6	1405	-		Colorectal(252;0.172)|Breast(234;0.188)	380					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.1139A>C	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328828|4.328828	0.81690|0.81690	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000430353|ENST00000428953	T|.	0.55760|.	0.5|.	5.42|5.42	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.70806|0.70806	-0.4772|-0.4772	10|5	0.48119|.	T|.	0.1|.	.|.	9.785|9.785	0.40670|0.40670	0.0:0.0784:0.0:0.9216|0.0:0.0784:0.0:0.9216	.|.	380|.	Q7Z3E2|.	CJ118_HUMAN|.	T|H	380;486|8	ENSP00000358293:K380T|.	ENSP00000358293:K380T|.	K|Q	-|-	2|3	0|2	C10orf118|C10orf118	115894328|115894328	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.989000|0.989000	0.77384|0.77384	4.946000|4.946000	0.63576|0.63576	0.900000|0.900000	0.36469|0.36469	0.456000|0.456000	0.33151|0.33151	AAA|CAA		0.299	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			34	299	0	0	0	1	0	34	299					G	115904338	T	G	115904338	3	3	79	1	0	0	0	0	1	0	0	0	1592	1841	64	4	1601	4	C10orf118	10	115904338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16971	115904338	19630409	11415	21732											
TDRD1	56165	broad.mit.edu	37	chr10	115970351	115970351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgataaggtgatcctgaaGatgttggaaaaatgacaact	10	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115970351G>T	ENST00000369280.1	+	12	1856	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	466					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGATCCTGAAGATGTTGGAAA	0.313																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1396-1398)Gat>Tat		tudor domain containing 1							84	81	82					10																	115970351		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970351G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1396G>T	10.37:g.115970351G>T	ENSP00000358286:p.Asp466Tyr					TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y	p.D466Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	12	1549	+		Colorectal(252;0.172)|Breast(234;0.188)	466					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1396G>T		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087955	0.55968	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19806	3.0;2.99;2.12;2.41;3.01	5.64	5.64	0.86602	.	0.670270	0.15592	N	0.254378	T	0.45377	0.1339	L	0.59436	1.845	0.36139	D	0.846662	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.964;0.968;0.98;0.986;0.991	T	0.49513	-0.8932	10	0.72032	D	0.01	-11.957	16.8571	0.86009	0.0:0.0:1.0:0.0	.	127;466;466;466;466	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	466;466;466;127;466	ENSP00000358288:D466Y;ENSP00000251864:D466Y;ENSP00000358287:D466Y;ENSP00000402794:D127Y;ENSP00000358286:D466Y	ENSP00000251864:D466Y	D	+	1	0	TDRD1	115960341	0.184000	0.23200	0.763000	0.31416	0.653000	0.38743	2.407000	0.44565	2.637000	0.89404	0.563000	0.77884	GAT		0.313	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			7	176	1	0	8.12818e-05	1	8.2724e-05	7	176					T	115970351	G	T	115970351	3	4	79	1	0	0	0	0	1	0	0	0	15782	942	33	3	1438	3	TDRD1	10	115970351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66013	115970351	19564396	11416	21733											
TDRD1	56165	broad.mit.edu	37	chr10	115985896	115985896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatggaaacattgaaacCctgcctctttgcagagtgca	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000369280.1	+	22	3556	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369281.2_Silent_p.T918T			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTGAAACCCTGCCTCTTT	0.443																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3094-3096)acC>acT		tudor domain containing 1							137	122	127					10																	115985896		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985896C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3096C>T	10.37:g.115985896C>T						TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369280.1_Silent_p.T1032T|TDRD1_ENST00000369281.2_Silent_p.T918T	p.T1032T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3249	+		Colorectal(252;0.172)|Breast(234;0.188)	1032			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.3096C>T																																																																																					0.443	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			80	311	0	0	0	1	0	80	311					T	115985896	C	T	115985896	2	4	79	1	0	0	0	0	0	0	0	1	15782	610	22	2		2	TDRD1	10	115985896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15545	115985896	19548851	11417	21734											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060340	116060340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgggcctgtgcactgCtggggccatgcagaaaggac	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	ENST00000304129.4	-	14	1681	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S551I			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	551					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGTGCACTGCTGGGGCCATG	0.612																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1651-1653)aGc>aTc		actin filament associated protein 1-like 2							99	91	94					10																	116060340		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060340C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1652G>T	10.37:g.116060340C>A	ENSP00000303042:p.Ser551Ile					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S551I	p.S551I	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	14	1952	-		Colorectal(252;0.175)|Breast(234;0.231)	551					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1652G>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122432	0.37436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.14766	2.49;2.49;2.48	5.61	0.381	0.16228	.	0.674836	0.16406	N	0.215834	T	0.19644	0.0472	M	0.65975	2.015	0.09310	N	1	P;B;B;D;B;P;P	0.54601	0.518;0.178;0.384;0.967;0.253;0.898;0.836	B;B;B;P;B;B;B	0.53593	0.299;0.086;0.157;0.73;0.168;0.425;0.244	T	0.08868	-1.0701	10	0.48119	T	0.1	-1.7918	2.9216	0.05771	0.1239:0.5535:0.12:0.2026	.	604;117;605;73;579;551;551	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	I	551;551;578;604	ENSP00000358276:S551I;ENSP00000303042:S551I;ENSP00000444511:S604I	ENSP00000303042:S551I	S	-	2	0	AFAP1L2	116050330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.106000	0.10890	0.044000	0.15775	-0.123000	0.14984	AGC		0.612	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		12	336	1	0	3.07112e-06	1	3.16074e-06	12	336					A	116060340	C	A	116060340	3	1	79	1	0	0	0	0	1	0	0	0	355	797	28	3	828	3	AFAP1L2	10	116060340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74444	116060340	19474407	11418	21735											
AFAP1L2	84632	broad.mit.edu	37	chr10	116092980	116092980	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatcccagcctcatacCtttgccttgagactctgcat	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000304129.4	-	3	249	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000369271.3_Splice_Site_p.A74S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	74					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.e3+1		actin filament associated protein 1-like 2							335	248	277					10																	116092980		2203	4300	6503	SO:0001630	splice_region_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116092980C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.220+1G>T	10.37:g.116092980C>A						AFAP1L2_ENST00000545353.1_Splice_Site_p.A74_splice|AFAP1L2_ENST00000304129.4_Splice_Site_p.A74_splice	p.A74_splice	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	3	520	-		Colorectal(252;0.175)|Breast(234;0.231)	74					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Splice_Site	SNP	ENST00000304129.4	37	c.220_splice	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746237	0.30955	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.37	5.37	0.77165	.	2.007730	0.01932	N	0.041313	T	0.44180	0.1281	N	0.25647	0.755	0.28073	N	0.932482	B;B;B;B;B	0.19583	0.018;0.01;0.026;0.037;0.022	B;B;B;B;B	0.17722	0.017;0.005;0.019;0.008;0.004	T	0.34229	-0.9837	9	.	.	.	-2.2251	16.4023	0.83644	0.0:1.0:0.0:0.0	.	74;74;74;74;74	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	74;74;73;92;74;92	ENSP00000358276:A74S;ENSP00000303042:A74S;ENSP00000444511:A74S;ENSP00000396781:A92S	.	A	-	1	0	AFAP1L2	116082970	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.681000	0.61663	2.673000	0.90976	0.655000	0.94253	GCG		0.522	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	Missense_Mutation	89	364	1	0	7.49063e-41	1	9.091e-41	89	364					A	116092980	C	A	116092980	5	1	79	1	0	0	0	0	0	0	1	0	355	695	24	3	2304	3	AFAP1L2	10	116092980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32640	116092980	19441767	11419	21736											
ABLIM1	3983	broad.mit.edu	37	chr10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacattccaaagatttcccGaaacacttcaggggctaagt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000277895.5	-	23	2345	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	750	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGATTTCCCGAAACACTTCA	0.453																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(2068-2070)Cgg>Tgg		actin binding LIM protein 1							110	105	106					10																	116196108		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116196108G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.2248C>T	10.37:g.116196108G>A	ENSP00000277895:p.Arg750Trp					ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R750W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	p.R690W			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	23	2369	-		Colorectal(252;0.0373)|Breast(234;0.231)	750					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.2068C>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438391	0.43326	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.31769	1.64;1.48;1.64;1.48	5.95	4.08	0.47627	Villin headpiece (5);	0.511140	0.22513	N	0.059068	T	0.23727	0.0574	L	0.32530	0.975	0.28110	N	0.931034	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.001;0.001;0.005;0.003	T	0.14587	-1.0467	10	0.51188	T	0.08	.	10.343	0.43891	0.1527:0.0:0.8473:0.0	.	690;718;750;427	F8W8M4;A6NKJ2;O14639;O14639-5	.;.;ABLM1_HUMAN;.	W	750;690;427;373;718;690;818;674;427;674;627;818;502	ENSP00000358256:R690W;ENSP00000376679:R427W;ENSP00000433629:R690W;ENSP00000358270:R427W	ENSP00000277895:R818W	R	-	1	2	ABLIM1	116186098	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.808000	0.55598	0.832000	0.34804	0.491000	0.48974	CGG		0.453	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			74	346	0	0	0	1	0	74	346					A	116196108	G	A	116196108	3	1	79	1	0	0	0	0	1	0	0	0	94	1057	37	1	92	1	ABLIM1	10	116196108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103128	116196108	19338639	11420	21737											
ABLIM1	3983	broad.mit.edu	37	chr10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtagcgactggctaacagaGatgacctttcccggctctct	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000277895.5	-	17	1992	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	632					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGCTAACAGAGATGACCTTTC	0.463																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1714-1716)tCt>tTt		actin binding LIM protein 1							171	169	170					10																	116203826		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116203826G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1895C>T	10.37:g.116203826G>A	ENSP00000277895:p.Ser632Phe					ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000277895.5_Missense_Mutation_p.S632F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	p.S572F			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	17	2016	-		Colorectal(252;0.0373)|Breast(234;0.231)	632					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1715C>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089915|2.089915	0.36855|0.36855	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.38|5.38	3.41|3.41	0.39046|0.39046	.|.	.|0.709815	.|0.13934	.|N	.|0.352708	T|T	0.33294|0.33294	0.0858|0.0858	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999963|0.999963	.|B;B;B;B;B;B;B;B;B	.|0.32338	.|0.072;0.072;0.365;0.004;0.013;0.323;0.25;0.044;0.137	.|B;B;B;B;B;B;B;B;B	.|0.37451	.|0.012;0.026;0.201;0.004;0.015;0.25;0.127;0.021;0.072	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.20046	.|T	.|0.44	.|.	8.4459|8.4459	0.32841|0.32841	0.0781:0.0:0.77:0.152|0.0781:0.0:0.77:0.152	.|.	.|509;234;572;600;632;309;602;556;255	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	F|F	506|632;572;309;255;600;572;700;556;309;556;509;700;384	.|ENSP00000358256:S572F;ENSP00000376679:S309F;ENSP00000433629:S572F;ENSP00000358270:S309F	.|ENSP00000277895:S700F	L|S	-|-	1|2	0|0	ABLIM1|ABLIM1	116193816|116193816	0.988000|0.988000	0.35896|0.35896	0.013000|0.013000	0.15412|0.15412	0.975000|0.975000	0.68041|0.68041	2.994000|2.994000	0.49433|0.49433	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CTC|TCT		0.463	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			126	488	0	0	0	1	0	126	488					A	116203826	G	A	116203826	3	1	79	1	0	0	0	0	1	0	0	0	94	942	33	2	465	2	ABLIM1	10	116203826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7718	116203826	19330921	11421	21738											
ABLIM1	3983	broad.mit.edu	37	chr10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctcagatgaggtgaCtttgcttttctcagagctgc	11	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	21					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATGAGGTGACTTTGCTTTTC	0.527																																						ENST00000277895.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(61-63)Gtc>Ttc		actin binding LIM protein 1							115	117	116					10																	116417899		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116417899C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.61G>T	10.37:g.116417899C>A	ENSP00000277895:p.Val21Phe					ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	p.V21F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	158	-		Colorectal(252;0.0373)|Breast(234;0.231)	21					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.61G>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130659	0.37630	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.30981	1.51	5.77	3.69	0.42338	.	1.498440	0.04411	N	0.366045	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999999	B	0.26400	0.148	B	0.21360	0.034	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.7105	0.34380	0.0:0.7413:0.1546:0.1041	.	21	O14639	ABLM1_HUMAN	F	21	ENSP00000277895:V21F	ENSP00000277895:V21F	V	-	1	0	ABLIM1	116407889	0.028000	0.19301	0.282000	0.24776	0.833000	0.47200	1.322000	0.33689	1.443000	0.47586	0.650000	0.86243	GTC		0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			101	472	1	0	3.65642e-31	1	4.30041e-31	101	472					A	116417899	C	A	116417899	3	1	79	1	0	0	0	0	1	0	0	0	94	565	20	3	2451	3	ABLIM1	10	116417899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214073	116417899	19116848	11422	21739											
FAM160B1	57700	broad.mit.edu	37	chr10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctttgcattgtgtgtgCgaagctgaaacaggacccct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(478-480)gCg>gTg		family with sequence similarity 160, member B1							196	209	205					10																	116595962		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116595962C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.479C>T	10.37:g.116595962C>T	ENSP00000358251:p.Ala160Val					FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			5	814	+			160					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.479C>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560340	0.96527	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.709;0.999	B;P	0.60789	0.079;0.879	T	0.27739	-1.0065	10	0.13470	T	0.59	-20.6102	18.7711	0.91892	0.0:1.0:0.0:0.0	.	160;160	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	160	ENSP00000358251:A160V;ENSP00000358253:A160V	ENSP00000358251:A160V	A	+	2	0	FAM160B1	116585952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.419000	0.82065	0.585000	0.79938	GCG		0.338	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		209	951	0	0	0	1	0	209	951					T	116595962	C	T	116595962	3	4	79	1	0	0	0	0	1	0	0	0	5491	768	27	1	497	1	FAM160B1	10	116595962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178063	116595962	18938785	11423	21740											
TRUB1	142940	broad.mit.edu	37	chr10	116710908	116710908	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgttgtcagggtccaaGgtaagaatactgaaatagtt	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	147					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGGGTCCAAGGTAAGAATAC	0.303																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.e3+1		TruB pseudouridine (psi) synthase family member 1							184	187	186					10																	116710908		2203	4300	6503	SO:0001630	splice_region_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116710908G>A	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.441+1G>A	10.37:g.116710908G>A						TRUB1_ENST00000485065.1_3'UTR	p.K147_splice	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	3	502	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	147					B2R716|Q53ES2	Splice_Site	SNP	ENST00000298746.3	37	c.441_splice	CCDS7591.1																																																																																				0.303	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169	Silent	34	441	0	0	0	1	0	34	441					A	116710908	G	A	116710908	5	1	79	1	0	0	0	0	0	0	1	0	16655	1014	35	2	451	2	TRUB1	10	116710908	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114946	116710908	18823839	11424	21741											
ATRNL1	26033	broad.mit.edu	37	chr10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagttacaatttagaaaGcagtatatggaatgtaggaa	9	2	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	340					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATTTAGAAAGCAGTATATGG	0.323																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1018-1020)aGc>aTc		attractin-like 1							76	77	77					10																	116925332		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925332G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1019G>T	10.37:g.116925332G>T	ENSP00000347152:p.Ser340Ile					ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	p.S340I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1145	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	340					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1019G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255337	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.68331	-0.32	5.65	4.69	0.59074	.	0.036729	0.85682	D	0.000000	T	0.77370	0.4120	M	0.65975	2.015	0.80722	D	1	P;D	0.61080	0.933;0.989	B;P	0.61201	0.441;0.885	T	0.79502	-0.1777	10	0.66056	D	0.02	-9.9627	13.3729	0.60723	0.0818:0.0:0.9182:0.0	.	340;340	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	340	ENSP00000347152:S340I	ENSP00000347152:S340I	S	+	2	0	ATRNL1	116915322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.253000	0.44018	0.650000	0.86243	AGC		0.323	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		31	176	1	0	1.06801e-11	1	1.14091e-11	31	176					T	116925332	G	T	116925332	3	4	79	1	0	0	0	0	1	0	0	0	1208	971	34	3	1045	3	ATRNL1	10	116925332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214424	116925332	18609415	11425	21742											
ATRNL1	26033	broad.mit.edu	37	chr10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaaccaaatcttcatagaGatgtcaacagatttggacac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	578					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTCATAGAGATGTCAACAG	0.313																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1732-1734)Gat>Tat		attractin-like 1							114	118	117					10																	117024714		2203	4297	6500	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117024714G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1732G>T	10.37:g.117024714G>T	ENSP00000347152:p.Asp578Tyr						p.D578Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	11	1858	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	578					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1732G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123123	0.77436	.	.	ENSG00000107518	ENST00000355044	T	0.15139	2.45	4.69	4.69	0.59074	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57528	-0.7796	10	0.72032	D	0.01	-26.3301	17.974	0.89121	0.0:0.0:1.0:0.0	.	578	Q5VV63	ATRN1_HUMAN	Y	578	ENSP00000347152:D578Y	ENSP00000347152:D578Y	D	+	1	0	ATRNL1	117014704	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.198000	0.94994	2.307000	0.77673	0.561000	0.74099	GAT		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		81	315	1	0	5.88579e-26	1	6.76971e-26	81	315					T	117024714	G	T	117024714	3	4	79	1	0	0	0	0	1	0	0	0	1208	942	33	3	1774	3	ATRNL1	10	117024714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99382	117024714	18510033	11426	21743											
ATRNL1	26033	broad.mit.edu	37	chr10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggattttctagtgTactccttaatgatatccttg	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	602					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCTAGTGTACTCCTTAAT	0.333																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)gTa>gCa		attractin-like 1							76	83	80					10																	117026306		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117026306T>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1805T>C	10.37:g.117026306T>C	ENSP00000347152:p.Val602Ala						p.V602A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	12	1931	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	602					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1805T>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975012	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.29397	1.57	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.053328	0.64402	D	0.000001	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	B	0.26975	0.165	B	0.28385	0.089	T	0.05632	-1.0873	10	0.16896	T	0.51	-20.4802	16.0865	0.81056	0.0:0.0:0.0:1.0	.	602	Q5VV63	ATRN1_HUMAN	A	602	ENSP00000347152:V602A	ENSP00000347152:V602A	V	+	2	0	ATRNL1	117016296	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.782000	0.68973	2.194000	0.70268	0.377000	0.23210	GTA		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		13	369	0	0	0	1	0	13	369					C	117026306	T	C	117026306	3	2	79	1	0	0	0	0	1	0	0	0	1208	1638	57	4	1851	4	ATRNL1	10	117026306	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1592	117026306	18508441	11427	21744											
ATRNL1	26033	broad.mit.edu	37	chr10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgcgaacagtgtaaAaatctcaccacaggaaagca	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1032	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACAGTGTAAAAATCTCACCA	0.368																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3094-3096)aaA>aaC		attractin-like 1							134	117	123					10																	117093850		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117093850A>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3096A>C	10.37:g.117093850A>C	ENSP00000347152:p.Lys1032Asn					ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	p.K1032N	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3222	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1032			Laminin EGF-like 1.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3096A>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960285	0.34565	.	.	ENSG00000107518	ENST00000355044	T	0.64260	-0.09	5.45	4.32	0.51571	EGF-like, laminin (3);	0.047709	0.85682	D	0.000000	T	0.50120	0.1597	L	0.47078	1.49	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.38929	-0.9638	10	0.21540	T	0.41	-18.1281	8.1716	0.31258	0.8428:0.0:0.1572:0.0	.	1032	Q5VV63	ATRN1_HUMAN	N	1032	ENSP00000347152:K1032N	ENSP00000347152:K1032N	K	+	3	2	ATRNL1	117083840	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	1.014000	0.39417	0.482000	0.46254	AAA		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		9	294	0	0	0	1	0	9	294					C	117093850	A	C	117093850	3	2	79	1	0	0	0	0	1	0	0	0	1208	11	1	4	3170	4	ATRNL1	10	117093850	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67544	117093850	18440897	11428	21745											
GFRA1	2674	broad.mit.edu	37	chr10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaaaaaatccgcaaggCgagatctacaataggaaaaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000355422.6	-	7	1326	c.776G>A	c.(775-777)cGc>cAc	p.R259H	GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	259					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATCCGCAAGGCGAGATCTACA	0.473																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(760-762)cGc>cAc		GDNF family receptor alpha 1							34	37	36					10																	117856270		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117856270C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.776G>A	10.37:g.117856270C>T	ENSP00000347591:p.Arg259His					GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R259H	p.R254H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1128	-		Lung NSC(174;0.21)	259					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.761G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413916	0.96072	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.048834	0.85682	D	0.000000	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.941	T	0.78773	-0.2073	10	0.52906	T	0.07	-33.882	18.5344	0.91004	0.0:1.0:0.0:0.0	.	259;254	P56159;P56159-2	GFRA1_HUMAN;.	H	259;254;254;138;254	ENSP00000358239:R254H;ENSP00000442179:R138H	ENSP00000347591:R254H	R	-	2	0	GFRA1	117846260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.826000	0.97356	0.655000	0.94253	CGC		0.473	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		17	69	0	0	0	1	0	17	69					T	117856270	C	T	117856270	3	4	79	1	0	0	0	0	1	0	0	0	6376	768	27	1	641	1	GFRA1	10	117856270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762420	117856270	17678477	11429	21746											
GFRA1	2674	broad.mit.edu	37	chr10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggccttgtggcacttgCggcggttgcagacatcgttg	17	9	0	1	rs376230694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000355422.6	-	6	1119	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(553-555)cGc>cAc		GDNF family receptor alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	62	66		554,569,554	5.8	1	10		66	0,8600		0,0,4300	no	missense,missense,missense	GFRA1	NM_001145453.1,NM_005264.4,NM_145793.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	185/461,190/466,185/461	117884933	1,13005	2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884933C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.569G>A	10.37:g.117884933C>T	ENSP00000347591:p.Arg190His					GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R190H	p.R185H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	921	-		Lung NSC(174;0.21)	190					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.554G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273572	0.95459	2.27E-4	0.0	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.965	T	0.71411	-0.4601	10	0.36615	T	0.2	-33.0593	20.1775	0.98187	0.0:1.0:0.0:0.0	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	H	190;185;185;69;185	ENSP00000358239:R185H;ENSP00000442179:R69H	ENSP00000347591:R185H	R	-	2	0	GFRA1	117874923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.851000	0.62896	2.771000	0.95319	0.561000	0.74099	CGC		0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		53	182	0	0	0	1	0	53	182					T	117884933	C	T	117884933	3	4	79	1	0	0	0	0	1	0	0	0	6376	768	27	1	852	1	GFRA1	10	117884933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28663	117884933	17649814	11430	21747											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgtctttcttcgtgTaggcggggcagttaggaaaa	14	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	377	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCTTCGTGTAGGCGGGGCA	0.478																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1129-1131)gTa>gCa		pancreatic lipase-related protein 3							160	168	165					10																	118231349		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231349T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1130T>C	10.37:g.118231349T>C	ENSP00000358232:p.Val377Ala						p.V377A	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1276	+			377			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1130T>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970902	0.53614	.	.	ENSG00000203837	ENST00000369230	T	0.72282	-0.64	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.073260	0.07498	N	0.906784	T	0.70254	0.3203	L	0.51422	1.61	0.09310	N	1	B	0.33549	0.417	B	0.38296	0.27	T	0.62923	-0.6751	10	0.87932	D	0	.	11.2943	0.49269	0.0:0.0:0.0:1.0	.	377	Q17RR3	LIPR3_HUMAN	A	377	ENSP00000358232:V377A	ENSP00000358232:V377A	V	+	2	0	PNLIPRP3	118221339	0.028000	0.19301	0.038000	0.18304	0.022000	0.10575	3.283000	0.51701	1.848000	0.53677	0.482000	0.46254	GTA		0.478	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		54	476	0	0	0	1	0	54	476					C	118231349	T	C	118231349	3	2	79	1	0	0	0	0	1	0	0	0	12194	1638	57	4	1168	4	PNLIPRP3	10	118231349	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	346416	118231349	17303398	11431	21748											
PNLIP	5406	broad.mit.edu	37	chr10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagggagaagaaaactggCtggccaatgtgtgcaaggtg	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	103					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(307-309)Ctg>Atg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						132	128	129					10																	118307977		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307977C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.307C>A	10.37:g.118307977C>A	ENSP00000358223:p.Leu103Met					PNLIP_ENST00000470562.1_3'UTR	p.L103M	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	335	+			103					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.307C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072303	0.36566	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.39	3.51	0.40186	Lipase, N-terminal (1);	0.555568	0.16090	N	0.230103	D	0.91663	0.7365	L	0.46157	1.445	0.40797	D	0.983309	D	0.76494	0.999	D	0.75484	0.986	D	0.88885	0.3342	10	0.33940	T	0.23	.	7.0787	0.25219	0.1402:0.7053:0.0:0.1544	.	103	P16233	LIPP_HUMAN	M	103	ENSP00000358223:L103M	ENSP00000358223:L103M	L	+	1	2	PNLIP	118297967	0.393000	0.25237	0.981000	0.43875	0.485000	0.33311	-0.281000	0.08456	1.517000	0.48917	0.585000	0.79938	CTG		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		121	557	1	0	2.70677e-71	1	3.44148e-71	121	557					A	118307977	C	A	118307977	3	1	79	1	0	0	0	0	1	0	0	0	12191	796	28	3	317	3	PNLIP	10	118307977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76628	118307977	17226770	11432	21749											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118385552	118385552	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcttcttagacaaggcGgaggacagctggccatcgga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000298771.7	+	0	325				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAGACAAGGCGGAGGACAGCT	0.547																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							61	65	64					10																	118385552		2156	4284	6440			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385552G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385552G>A						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	326	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37																																																																																						0.547	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		25	132	0	0	0	1	0	25	132					A	118385552	G	A	118385552	1	1	79	0	1	0	0	0	0	0	0	0	12193	1103	39	1		1	PNLIPRP2	10	118385552	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77575	118385552	17149195	11433	21750											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118394364	118394364	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggaattggtggctTtgtgtcttgcaatcacctaa	9	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000298771.7	+	0	855				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTGGTGGCTTTGTGTCTTGC	0.468																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							96	95	95					10																	118394364		1931	4173	6104			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118394364T>G	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394364T>G						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	856	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37			.	.	.	.	.	.	.	.	.	.	T	8.513	0.866972	0.17250	.	.	ENSG00000165862	ENST00000537242	D	0.91740	-2.9	5.29	2.92	0.33932	Lipase, N-terminal (1);	0.224285	0.30374	U	0.009767	D	0.94420	0.8205	.	.	.	0.24291	N	0.995166	D	0.89917	1.0	D	0.77004	0.989	D	0.87305	0.2308	9	0.72032	D	0.01	.	6.9395	0.24484	0.1331:0.0745:0.0:0.7925	.	277	P54317	LIPR2_HUMAN	C	277	ENSP00000446346:F277C	ENSP00000446346:F277C	F	+	2	0	PNLIPRP2	118384354	0.931000	0.31567	0.208000	0.23602	0.002000	0.02628	1.212000	0.32394	0.400000	0.25396	-0.561000	0.04177	TTT		0.468	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		9	197	0	0	0	1	0	9	197					G	118394364	T	G	118394364	1	3	79	0	1	0	0	0	0	0	0	0	12193	1841	64	4		4	PNLIPRP2	10	118394364	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8812	118394364	17140383	11434	21751											
HSPA12A	259217	broad.mit.edu	37	chr10	118434865	118434865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcaggggcgcctcGgcaaagccgcccaccagaaa	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	485						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1453-1455)gcC>gcT		heat shock 70kDa protein 12A							14	16	16					10																	118434865		1916	4110	6026	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434865G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1455C>T	10.37:g.118434865G>A							p.A485A	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1559	-			485						Silent	SNP	ENST00000369209.3	37	c.1455C>T	CCDS41569.1																																																																																				0.637	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		30	102	0	0	0	1	0	30	102					A	118434865	G	A	118434865	2	1	79	1	0	0	0	0	0	0	0	1	7434	1103	39	1		1	HSPA12A	10	118434865	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40501	118434865	17099882	11435	21752											
HSPA12A	259217	broad.mit.edu	37	chr10	118458251	118458251	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtatccatggtgaggtcCtggtaggaggaagaggaaca	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e5-1		heat shock 70kDa protein 12A							115	109	111					10																	118458251		1932	4141	6073	SO:0001630	splice_region_variant	259217						ATP binding	g.chr10:118458251C>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.442-1G>T	10.37:g.118458251C>A								NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	5	546	-									Splice_Site	SNP	ENST00000369209.3	37		CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844608	0.71488	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA12A	118448241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.803000	0.85983	2.652000	0.90054	0.655000	0.94253	.		0.507	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	Intron	103	421	1	0	1.25439e-55	1	1.56857e-55	103	421					A	118458251	C	A	118458251	5	1	79	1	0	0	0	0	0	0	1	0	7434	695	24	3	1618	3	HSPA12A	10	118458251	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23386	118458251	17076496	11436	21753											
KIAA1598	57698	broad.mit.edu	37	chr10	118645867	118645867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatggatcagcagttggaGctgtctgtctctctcacgtt	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118645867G>A	ENST00000355371.4	-	17	2381	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	KIAA1598_ENST00000392903.2_Intron|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_3'UTR|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	628					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGCAGTTGGAGCTGTCTGTCT	0.413																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1882-1884)agC>agT		KIAA1598							278	206	228					10																	118645867		692	1591	2283	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118645867G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1884C>T	10.37:g.118645867G>A						KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Intron|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_3'UTR	p.S628S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	17	2381	-			628					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.1884C>T	CCDS44482.1																																																																																				0.413	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		4	21	0	0	0	1	0	4	21					A	118645867	G	A	118645867	2	1	79	1	0	0	0	0	0	0	0	1	8276	962	34	2		2	KIAA1598	10	118645867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187616	118645867	16888880	11437	21754											
KIAA1598	57698	broad.mit.edu	37	chr10	118671334	118671334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatccactgcactttcGcagcctttcgaagattctgg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000355371.4	-	14	1823	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000392903.2_Silent_p.C442C|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	442					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1324-1326)tgC>tgT		KIAA1598							75	76	76					10																	118671334		2203	4298	6501	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118671334G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1326C>T	10.37:g.118671334G>A						KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000392903.2_Silent_p.C442C|KIAA1598_ENST00000260777.10_Silent_p.C442C	p.C442C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	14	1823	-			442					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.1326C>T	CCDS44482.1																																																																																				0.299	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		51	238	0	0	0	1	0	51	238					A	118671334	G	A	118671334	2	1	79	1	0	0	0	0	0	0	0	1	8276	1079	38	1		1	KIAA1598	10	118671334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25467	118671334	16863413	11438	21755											
KIAA1598	57698	broad.mit.edu	37	chr10	118738812	118738812	+	Silent	SNP	G	G	A													gctctaaggtcttcatattcGcctattgctaaaagaaaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000355371.4	-	2	563	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000392903.2_Silent_p.G22G|KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(64-66)ggC>ggT		KIAA1598							115	109	111					10																	118738812		2203	4300	6503	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118738812G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.66C>T	10.37:g.118738812G>A						KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G|KIAA1598_ENST00000260777.10_Silent_p.G22G	p.G22G	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	563	-			22					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.66C>T	CCDS44482.1																																																																																				0.408	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		41	256	0	0	0	1	0	41	256					A	118738812	G	A	118738812	2	1	79	1	0	0	0	0	0	0	0	1	8276	1074	38	1		1	KIAA1598	10	118738812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67478	118738812	16795935	11439	21756	133	2									
KIAA1598	57698	broad.mit.edu	37	chr10	118738814	118738814	+	Missense_Mutation	SNP	C	C	A													tctaaggtcttcatattcgcCtattgctaaaagaaaaaagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000355371.4	-	2	561	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398																																						ENST00000392901.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10								KIAA1598							114	109	110					10																	118738814		2203	4300	6503	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118738814C>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.64G>T	10.37:g.118738814C>A	ENSP00000347532:p.Gly22Cys					KIAA1598_ENST00000355371.4_Missense_Mutation_p.G22C|KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C		NM_001258300.1	NP_001245229.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	0	351	-								A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Translation_Start_Site	SNP	ENST00000355371.4	37		CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836339	0.71373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	.	0.291016	0.34362	N	0.004035	D	0.92721	0.7686	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93178	0.6572	10	0.59425	D	0.04	-10.5094	16.1594	0.81686	0.0:1.0:0.0:0.0	.	22;22	A0MZ66;A0MZ66-2	SHOT1_HUMAN;.	C	22	ENSP00000376636:G22C;ENSP00000260777:G22C;ENSP00000347532:G22C	ENSP00000260777:G22C	G	-	1	0	KIAA1598	118728804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.029000	0.57253	2.885000	0.99019	0.655000	0.94253	GGC		0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		39	253	1	0	8.16904e-11	1	8.68463e-11	39	253					A	118738814	C	A	118738814	3	1	79	1	0	0	0	0	1	0	0	0	8276	681	24	3	1895	3	KIAA1598	10	118738814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	118738814	16795933	11440	21757	133	2									
VAX1	11023	broad.mit.edu	37	chr10	118891804	118891804	+	IGR	DEL	T	T	-													ttcttccttttcttcttttgTttttttatccttcaaatata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118891804delT	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Frame_Shift_Del_p.K159fs	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTTCTTTTGTTTTTTTATCC	0.423																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(475-477)aafs		ventral anterior homeobox 1				3,4261		0,3,2129	46	55	52			-7.7	0	10		52	0,8254		0,0,4127	no	frameshift	VAX1	NM_199131.2		0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024			118891804	3,12515	2203	4300	6503	SO:0001628	intergenic_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118891804delT	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891804delT							p.K159fs	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	4	721	-			154					B1AVW5|Q6ZSX0	Frame_Shift_Del	DEL	ENST00000369206.5	37	c.477delA	CCDS44483.1																																																																																				0.423	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		34	361						34	361	---	---	---	---	-	118891804	T	-	118891804	6	5	79	0	1	1	0	1	0	0	0	0	17188	1722	60	0		0	VAX1	10	118891804	IGR	DEL	T	TCGA-IB-7651-01A-11D-2154-08	152990	118891804	16642943	11441	21758											
VAX1	11023	broad.mit.edu	37	chr10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccagccgatagagctgctCcgcggtgaaggacgtgcgcg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000369206.5	-	2	327	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000277905.2_Nonsense_Mutation_p.E110*	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	110					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(328-330)Gag>Tag		ventral anterior homeobox 1							43	41	42					10																	118896084		2202	4300	6502	SO:0001587	stop_gained	11023					nucleus	sequence-specific DNA binding	g.chr10:118896084C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.328G>T	10.37:g.118896084C>A	ENSP00000358207:p.Glu110*					VAX1_ENST00000369206.5_Nonsense_Mutation_p.E110*	p.E110*	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	572	-			110					B1AVW5|Q6ZSX0	Nonsense_Mutation	SNP	ENST00000369206.5	37	c.328G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908892	0.92107	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	.	.	.	4.03	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.2658	13.3785	0.60754	0.0:0.8404:0.1596:0.0	.	.	.	.	X	110	.	ENSP00000277905:E110X	E	-	1	0	VAX1	118886074	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.529000	0.67135	0.845000	0.35118	0.455000	0.32223	GAG		0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		66	247	1	0	5.80444e-35	1	6.91851e-35	66	247					A	118896084	C	A	118896084	4	1	79	1	0	0	0	0	0	1	0	0	17188	864	30	3	824	3	VAX1	10	118896084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4280	118896084	16638663	11442	21759											
KCNK18	338567	broad.mit.edu	37	chr10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagacagaaaacaggatCtccaggggcatctgcagaag	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	83					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAAACAGGATCTCCAGGGGCA	0.517																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(247-249)Ctc>Ttc		potassium channel, subfamily K, member 18							174	167	170					10																	118960693		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960693C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.247C>T	10.37:g.118960693C>T	ENSP00000334650:p.Leu83Phe						p.L83F	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	247	+		Colorectal(252;0.19)	83					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.247C>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000186795	ENST00000334549	T	0.16324	2.35	4.34	-2.37	0.06643	.	0.703620	0.13804	N	0.361593	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	P	0.45283	0.855	B	0.35859	0.212	T	0.40098	-0.9581	10	0.19590	T	0.45	.	8.3945	0.32548	0.0971:0.318:0.5131:0.0718	.	83	Q7Z418	KCNKI_HUMAN	F	83	ENSP00000334650:L83F	ENSP00000334650:L83F	L	+	1	0	KCNK18	118950683	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.261000	0.08694	-0.423000	0.07394	-0.176000	0.13171	CTC		0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		171	785	0	0	0	1	0	171	785					T	118960693	C	T	118960693	3	4	79	1	0	0	0	0	1	0	0	0	8095	913	32	2	253	2	KCNK18	10	118960693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64609	118960693	16574054	11443	21760											
SLC18A2	6571	broad.mit.edu	37	chr10	119003516	119003516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttatctgtacagcattaaGcatgagaagaatgctacaga	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	52					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(154-156)aaG>aaA		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						66	58	61					10																	119003516		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003516G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.156G>A	10.37:g.119003516G>A						SLC18A2_ENST00000497497.1_3'UTR	p.K52K	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	299	+		Colorectal(252;0.19)	52					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.156G>A	CCDS7599.1																																																																																				0.488	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		30	124	0	0	0	1	0	30	124					A	119003516	G	A	119003516	2	1	79	1	0	0	0	0	0	0	0	1	14476	962	34	2		2	SLC18A2	10	119003516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42823	119003516	16531231	11444	21761											
SLC18A2	6571	broad.mit.edu	37	chr10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcaccaaccctttcatagGactactgaccaacaggtagg	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	150					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(448-450)gGa>gAa		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						52	50	50					10																	119003809		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003809G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.449G>A	10.37:g.119003809G>A	ENSP00000298472:p.Gly150Glu					SLC18A2_ENST00000497497.1_3'UTR	p.G150E	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	592	+		Colorectal(252;0.19)	150					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.449G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815283	0.90790	.	.	ENSG00000165646	ENST00000298472	T	0.73469	-0.75	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91690	0.5365	10	0.87932	D	0	-11.3411	18.0482	0.89340	0.0:0.0:1.0:0.0	.	150	Q05940	VMAT2_HUMAN	E	150	ENSP00000298472:G150E	ENSP00000298472:G150E	G	+	2	0	SLC18A2	118993799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GGA		0.448	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		22	104	0	0	0	1	0	22	104					A	119003809	G	A	119003809	3	1	79	1	0	0	0	0	1	0	0	0	14476	1174	41	2	455	2	SLC18A2	10	119003809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	119003809	16530938	11445	21762											
PDZD8	118987	broad.mit.edu	37	chr10	119134343	119134343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgcccggccgtcttggtCtgcagcagctcctcgaactc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119134343C>A	ENST00000334464.5	-	1	635	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	132					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCGTCTTGGTCTGCAGCAGCT	0.662																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(394-396)caG>caT		PDZ domain containing 8							29	37	34					10																	119134343		2200	4296	6496	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119134343C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.396G>T	10.37:g.119134343C>A	ENSP00000334642:p.Gln132His						p.Q132H	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	1	635	-		Colorectal(252;0.19)	132					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.396G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799060	0.90538	.	.	ENSG00000165650	ENST00000334464	D	0.86366	-2.11	4.44	4.44	0.53790	.	0.067759	0.64402	D	0.000010	D	0.92071	0.7487	L	0.57536	1.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.92922	0.6356	10	0.66056	D	0.02	-9.667	17.3371	0.87285	0.0:1.0:0.0:0.0	.	132	Q8NEN9	PDZD8_HUMAN	H	132	ENSP00000334642:Q132H	ENSP00000334642:Q132H	Q	-	3	2	PDZD8	119124333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.110000	0.57831	2.299000	0.77371	0.644000	0.83932	CAG		0.662	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		8	362	1	0	0.00307968	1	0.00310409	8	362					A	119134343	C	A	119134343	3	1	79	1	0	0	0	0	1	0	0	0	11747	912	32	3	3088	3	PDZD8	10	119134343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130534	119134343	16400404	11446	21763											
EMX2	2018	broad.mit.edu	37	chr10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccgccggtagggGcgtctactccaacccggact	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	62					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		gccggTAGGGGCGTCTACTCC	0.721																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(184-186)gGc>gAc		empty spiracles homeobox 2							6	8	7					10																	119302963		2097	4114	6211	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119302963G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.185G>A	10.37:g.119302963G>A	ENSP00000450962:p.Gly62Asp					EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D	p.G62D	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1009	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	62					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.185G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826475	0.32329	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91843	-2.92	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	N	0.08118	0	0.80722	D	1	B;B	0.33413	0.049;0.411	B;B	0.26517	0.04;0.07	T	0.81788	-0.0772	10	0.39692	T	0.17	-16.1459	15.1126	0.72372	0.0676:0.0:0.9324:0.0	.	62;62	G3V305;Q04743	.;EMX2_HUMAN	D	62	ENSP00000450962:G62D	ENSP00000358202:G62D	G	+	2	0	AC005871.1;EMX2	119292953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.389000	0.66255	1.506000	0.48736	0.643000	0.83706	GGC		0.721	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		38	127	0	0	0	1	0	38	127					A	119302963	G	A	119302963	3	1	79	1	0	0	0	0	1	0	0	0	5126	1203	42	2	187	2	EMX2	10	119302963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168620	119302963	16231784	11447	21764											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgcgctgacgagagtcGctgaggacccaagagaaaag	14	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	221					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(661-663)Cga>Tga		RAB11 family interacting protein 2 (class I)							182	184	183					10																	119799769		2203	4299	6502	SO:0001587	stop_gained	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799769G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.661C>T	10.37:g.119799769G>A	ENSP00000347839:p.Arg221*					RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*	p.R221*	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1100	-		Colorectal(252;0.235)	221					A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	c.661C>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887967	0.91814	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	2.44	0.29823	.	0.237237	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.2399	15.2537	0.73568	0.0:0.0:0.4982:0.5018	.	.	.	.	X	221	.	ENSP00000347839:R221X	R	-	1	2	RAB11FIP2	119789759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	0.284000	0.22305	0.655000	0.94253	CGA		0.443	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		145	577	0	0	0	1	0	145	577					A	119799769	G	A	119799769	4	1	79	1	0	0	0	0	0	1	0	0	12944	1095	38	1	893	1	RAB11FIP2	10	119799769	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496806	119799769	15734978	11448	21765											
PRLHR	2834	broad.mit.edu	37	chr10	120353797	120353797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatggcgagccagtgGcagagcagctgcaccagccc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000369169.1	-	1	959	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000239032.2_Silent_p.C320C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	320					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(958-960)tgC>tgT		prolactin releasing hormone receptor							49	48	49					10																	120353797		2203	4298	6501	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353797G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.960C>T	10.37:g.120353797G>A						PRLHR_ENST00000369169.1_Silent_p.C320C	p.C320C	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1098	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	320					O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.960C>T	CCDS7606.1																																																																																				0.647	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		95	328	0	0	0	1	0	95	328					A	120353797	G	A	120353797	2	1	79	1	0	0	0	0	0	0	0	1	12577	1195	42	2		2	PRLHR	10	120353797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554028	120353797	15180950	11449	21766											
EIF3A	8661	broad.mit.edu	37	chr10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgaatctgcgataagtGcattctcaaattgtcacaca	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	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)			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)		TGCGATAAGTGCATTCTCAAA	0.398																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(610-612)Cac>Tac		eukaryotic translation initiation factor 3, subunit A							152	138	143					10																	120830529		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.chr10:120830529G>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.610C>T	10.37:g.120830529G>A	ENSP00000358140:p.His204Tyr					EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y|EIF3A_ENST00000478852.1_Intron	p.H204Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	5	737	-		Lung NSC(174;0.094)|all_lung(145;0.123)	204					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.610C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244668	0.79912	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.41400	1.0;1.0	5.69	5.69	0.88448	.	0.000000	0.40908	D	0.000981	T	0.74038	0.3664	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.80243	-0.1463	10	0.87932	D	0	-24.562	19.813	0.96554	0.0:0.0:1.0:0.0	.	204	Q14152	EIF3A_HUMAN	Y	204;170	ENSP00000358140:H204Y;ENSP00000438178:H170Y	ENSP00000358140:H204Y	H	-	1	0	EIF3A	120820519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	CAC		0.398	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		62	241	0	0	0	1	0	62	241					A	120830529	G	A	120830529	3	1	79	1	0	0	0	0	1	0	0	0	5028	1319	46	2	3610	2	EIF3A	10	120830529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476732	120830529	14704218	11450	21767											
RGS10	6001	broad.mit.edu	37	chr10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggaactgccatcgCtgtcgtggatgtctgcaaag	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000369101.3	-	1	65	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000469575.1_5'Flank			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	13					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527																																						ENST00000392865.1																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(19-21)aGc>aTc		regulator of G-protein signaling 10							99	90	93					10																	121286924		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121286924C>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.38G>T	10.37:g.121286924C>A	ENSP00000358097:p.Ser13Ile					RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000369101.3_Missense_Mutation_p.S13I	p.S7I	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	2	82	-		Lung NSC(174;0.094)|all_lung(145;0.123)	13					A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.20G>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.034845	0.35893	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47528	0.85;0.84;0.84	5.63	4.73	0.59995	.	0.429106	0.24220	N	0.040450	T	0.29652	0.0740	N	0.08118	0	0.22489	N	0.999058	B;B;B	0.28880	0.226;0.226;0.145	B;B;B	0.34242	0.176;0.178;0.058	T	0.22521	-1.0214	10	0.25751	T	0.34	-10.5978	11.8905	0.52626	0.0:0.9179:0.0:0.0821	.	21;7;13	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	I	7;21;13	ENSP00000376605:S7I;ENSP00000358099:S21I;ENSP00000358097:S13I	ENSP00000358097:S13I	S	-	2	0	RGS10	121276914	0.227000	0.23707	0.039000	0.18376	0.655000	0.38815	1.434000	0.34958	1.516000	0.48900	0.551000	0.68910	AGC		0.527	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		47	264	1	0	1.30916e-28	1	1.52443e-28	47	264					A	121286924	C	A	121286924	3	1	79	1	0	0	0	0	1	0	0	0	13343	797	28	3	499	3	RGS10	10	121286924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456395	121286924	14247823	11451	21768											
TIAL1	7073	broad.mit.edu	37	chr10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatagcagctaatgcagCagctgcatctctgtgttcat	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000436547.2	-	3	231	c.187G>A	c.(187-189)Gct>Act	p.A63T	TIAL1_ENST00000369093.2_Missense_Mutation_p.A80T|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	63	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378																																						ENST00000369093.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(238-240)Gct>Act		TIA1 cytotoxic granule-associated RNA binding protein-like 1							117	126	123					10																	121342012		2203	4300	6503	SO:0001583	missense	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121342012C>T	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.187G>A	10.37:g.121342012C>T	ENSP00000394902:p.Ala63Thr					TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.A63T	p.A80T	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	3	267	-		Lung NSC(174;0.094)|all_lung(145;0.123)	63			RRM 1.		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	c.238G>A	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405115	0.62288	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049698	0.85682	D	0.000000	T	0.25680	0.0625	N	0.25825	0.765	0.80722	D	1	B;P	0.49559	0.009;0.925	B;P	0.59012	0.025;0.85	T	0.01476	-1.1345	10	0.09338	T	0.73	-16.3566	20.3018	0.98617	0.0:1.0:0.0:0.0	.	80;63	A8K4L9;Q01085	.;TIAR_HUMAN	T	80;63;24;24	ENSP00000358089:A80T;ENSP00000394902:A63T;ENSP00000403573:A24T;ENSP00000358082:A24T	ENSP00000358082:A24T	A	-	1	0	TIAL1	121332002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.799000	0.96334	0.650000	0.86243	GCT		0.378	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		119	515	0	0	0	1	0	119	515					T	121342012	C	T	121342012	3	4	79	1	0	0	0	0	1	0	0	0	15941	710	25	2	980	2	TIAL1	10	121342012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55088	121342012	14192735	11452	21769											
BAG3	9531	broad.mit.edu	37	chr10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggctacattcccattcCtgtgctccatgaaggcgctg	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	97					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(289-291)cCt>cAt		BCL2-associated athanogene 3							127	127	127					10																	121429472		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429472C>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.290C>A	10.37:g.121429472C>A	ENSP00000358081:p.Pro97His						p.P97H	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	596	+		Lung NSC(174;0.109)|all_lung(145;0.142)	97					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.290C>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687358	0.88639	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.91894	-1.85;-2.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96290	0.9213	10	0.87932	D	0	-10.6369	19.1934	0.93677	0.0:1.0:0.0:0.0	.	97;97	O95817;Q53GY1	BAG3_HUMAN;.	H	97;39	ENSP00000358081:P97H;ENSP00000410036:P39H	ENSP00000358081:P97H	P	+	2	0	BAG3	121419462	1.000000	0.71417	0.796000	0.32109	0.852000	0.48524	7.059000	0.76684	2.536000	0.85505	0.561000	0.74099	CCT		0.637	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		61	886	1	0	9.59835e-30	1	1.1228e-29	61	886					A	121429472	C	A	121429472	3	1	79	1	0	0	0	0	1	0	0	0	1289	681	24	3	296	3	BAG3	10	121429472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87460	121429472	14105275	11453	21770											
BAG3	9531	broad.mit.edu	37	chr10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggacaggtggcagcgGcggcggcagcccagccccca	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	157					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(469-471)Gcg>Acg		BCL2-associated athanogene 3							26	30	28					10																	121429651		2189	4275	6464	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429651G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.469G>A	10.37:g.121429651G>A	ENSP00000358081:p.Ala157Thr						p.A157T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	775	+		Lung NSC(174;0.109)|all_lung(145;0.142)	157					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.469G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024051	0.19433	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74737	-0.83;-0.87	5.28	4.36	0.52297	.	0.414011	0.28290	N	0.015893	T	0.66713	0.2817	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.55108	-0.8192	10	0.30854	T	0.27	-2.4151	9.2785	0.37714	0.0737:0.0:0.7831:0.1432	.	157;157	O95817;Q53GY1	BAG3_HUMAN;.	T	157;99	ENSP00000358081:A157T;ENSP00000410036:A99T	ENSP00000358081:A157T	A	+	1	0	BAG3	121419641	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	3.823000	0.55715	1.195000	0.43115	0.561000	0.74099	GCG		0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		60	336	0	0	0	1	0	60	336					A	121429651	G	A	121429651	3	1	79	1	0	0	0	0	1	0	0	0	1289	1203	42	2	475	2	BAG3	10	121429651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	121429651	14105096	11454	21771											
INPP5F	22876	broad.mit.edu	37	chr10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttagctctgtaagaagCatcattttggtattaacaaa	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(328-330)Cat>Tat		inositol polyphosphate-5-phosphatase F							107	112	110					10																	121551041		2203	4298	6501	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121551041C>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.328C>T	10.37:g.121551041C>T	ENSP00000354519:p.His110Tyr					INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	p.H110Y	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	4	494	+		Lung NSC(174;0.109)|all_lung(145;0.142)	110					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.328C>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669097	0.88348	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.59772	0.74;0.24	5.63	5.63	0.86233	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.71036	2.16	0.80722	D	1	P;D	0.67145	0.889;0.996	P;D	0.75484	0.651;0.986	T	0.76539	-0.2922	10	0.56958	D	0.05	-25.1659	20.0344	0.97551	0.0:1.0:0.0:0.0	.	110;110	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	110;110;14	ENSP00000354519:H110Y;ENSP00000358079:H110Y	ENSP00000354519:H110Y	H	+	1	0	INPP5F	121541031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.803000	0.96430	0.650000	0.86243	CAT		0.358	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		71	354	0	0	0	1	0	71	354					T	121551041	C	T	121551041	3	4	79	1	0	0	0	0	1	0	0	0	7788	710	25	2	342	2	INPP5F	10	121551041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121390	121551041	13983706	11455	21772											
INPP5F	22876	broad.mit.edu	37	chr10	121551380	121551380	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtagattaatttcttataGgttaaggaaagtaaagagaa	9	1	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551380G>T	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e5-1		inositol polyphosphate-5-phosphatase F							75	79	78					10																	121551380		2203	4300	6503	SO:0001630	splice_region_variant	22876						phosphoric ester hydrolase activity	g.chr10:121551380G>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.445-1G>T	10.37:g.121551380G>T						INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	610	+		Lung NSC(174;0.109)|all_lung(145;0.142)						A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000361976.2	37		CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855862	0.51376	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	.	.	.	5.67	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0496	0.71858	0.0686:0.0:0.9314:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5F	121541370	1.000000	0.71417	0.978000	0.43139	0.631000	0.37964	7.420000	0.80191	1.532000	0.49169	0.650000	0.86243	.		0.343	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	Intron	10	364	1	0	2.17888e-05	1	2.22852e-05	10	364					T	121551380	G	T	121551380	5	4	79	1	0	0	0	0	0	0	1	0	7788	1014	35	3	462	3	INPP5F	10	121551380	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339	121551380	13983367	11456	21773											
C10orf119	79892	broad.mit.edu	37	chr10	121618597	121618597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcataaactcccatgtAaaactcagggtcaaacatat	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121618597A>C	ENST00000360003.3	-	3	410	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.Y81D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	81					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACTCCCATGTAAAACTCAGGG	0.343																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(241-243)Tac>Gac		minichromosome maintenance complex binding protein							80	77	78					10																	121618597		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618597A>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.241T>G	10.37:g.121618597A>C	ENSP00000353098:p.Tyr81Asp					MCMBP_ENST00000369077.3_Missense_Mutation_p.Y81D|MCMBP_ENST00000466047.1_5'UTR	p.Y81D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			3	410	-			81					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.241T>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494809	0.85069	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.41	5.41	0.78517	.	0.068023	0.64402	D	0.000010	D	0.83949	0.5365	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.87282	0.2293	9	0.72032	D	0.01	-9.3558	15.4445	0.75220	1.0:0.0:0.0:0.0	.	81	Q9BTE3	MCMBP_HUMAN	D	81	.	ENSP00000353098:Y81D	Y	-	1	0	MCMBP	121608587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.037000	0.60232	0.533000	0.62120	TAC		0.343	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		45	222	0	0	0	1	0	45	222					C	121618597	A	C	121618597	3	2	79	1	0	0	0	0	1	0	0	0	1593	362	13	4	1743	4	C10orf119	10	121618597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67217	121618597	13916150	11457	21774											
SEC23IP	11196	broad.mit.edu	37	chr10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagggggacacagatagtcGatttattccctatactgagg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	354	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAGATAGTCGATTTATTCCC	0.423																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1060-1062)cGa>cAa		SEC23 interacting protein							79	85	82					10																	121663749		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663749G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1061G>A	10.37:g.121663749G>A	ENSP00000358071:p.Arg354Gln					SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	p.R354Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1133	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	354			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1061G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297463	0.81025	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.46	5.46	0.80206	.	0.046877	0.85682	D	0.000000	T	0.48077	0.1480	M	0.79258	2.445	0.48901	D	0.999727	D;P	0.64830	0.994;0.908	P;B	0.54238	0.746;0.327	T	0.48352	-0.9043	10	0.51188	T	0.08	-23.302	12.9576	0.58438	0.074:0.0:0.926:0.0	.	143;354	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	354;143;88	ENSP00000358071:R354Q;ENSP00000438773:R143Q;ENSP00000396906:R88Q	ENSP00000358071:R354Q	R	+	2	0	SEC23IP	121653739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.713000	0.92767	0.655000	0.94253	CGA		0.423	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			68	248	0	0	0	1	0	68	248					A	121663749	G	A	121663749	3	1	79	1	0	0	0	0	1	0	0	0	14043	1058	37	1	1075	1	SEC23IP	10	121663749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45152	121663749	13870998	11458	21775											
SEC23IP	11196	broad.mit.edu	37	chr10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A													gttttaatgaataccttttcGctcttcagagtcacttatgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	966	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATACCTTTTCGCTCTTCAGAG	0.388																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2896-2898)Gct>Act		SEC23 interacting protein							126	123	124					10																	121692654		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121692654G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2896G>A	10.37:g.121692654G>A	ENSP00000358071:p.Ala966Thr					SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T	p.A966T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	17	2968	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	966			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2896G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927052	0.92389	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;1.08	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.67707	-0.5601	10	0.52906	T	0.07	-21.8137	19.2611	0.93968	0.0:0.0:1.0:0.0	.	755;966	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	966;755	ENSP00000358071:A966T;ENSP00000438773:A755T	ENSP00000358071:A966T	A	+	1	0	SEC23IP	121682644	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	GCT		0.388	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			71	338	0	0	0	1	0	71	338					A	121692654	G	A	121692654	3	1	79	1	0	0	0	0	1	0	0	0	14043	1087	38	1	2962	1	SEC23IP	10	121692654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28905	121692654	13842093	11459	21776	134	2									
SEC23IP	11196	broad.mit.edu	37	chr10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A													ataccttttcgctcttcagaGtcacttatgctattggtaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	969	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTTCAGAGTCACTTATGC	0.373																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2905-2907)aGt>aAt		SEC23 interacting protein							128	125	126					10																	121692664		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121692664G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2906G>A	10.37:g.121692664G>A	ENSP00000358071:p.Ser969Asn					SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N	p.S969N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	17	2978	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	969			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2906G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670203	0.88348	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.44881	0.91;0.99	5.28	5.28	0.74379	DDHD (2);	0.038155	0.85682	D	0.000000	T	0.74160	0.3680	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81031	-0.1117	10	0.87932	D	0	-16.7504	19.2611	0.93968	0.0:0.0:1.0:0.0	.	758;969	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	969;758	ENSP00000358071:S969N;ENSP00000438773:S758N	ENSP00000358071:S969N	S	+	2	0	SEC23IP	121682654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.296000	0.72751	2.625000	0.88918	0.655000	0.94253	AGT		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			69	329	0	0	0	1	0	69	329					A	121692664	G	A	121692664	3	1	79	1	0	0	0	0	1	0	0	0	14043	1029	36	2	2972	2	SEC23IP	10	121692664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	121692664	13842083	11460	21777	134	2									
WDR11	55717	broad.mit.edu	37	chr10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgccaaattacattgtgCtctggaatgccgacactggc	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	450					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACATTGTGCTCTGGAATGC	0.433																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(427-429)Ctc>Atc		WD repeat domain 11							136	116	123					10																	122619695		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619695C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.427C>A	10.37:g.122619695C>A	ENSP00000263461:p.Leu143Ile						p.L143I	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	673	+			143					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.427C>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678055	0.68042	.	.	ENSG00000120008	ENST00000263461	T	0.28895	1.59	5.48	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.49126	1.545	0.53005	D	0.999962	D	0.63880	0.993	D	0.70016	0.967	T	0.20940	-1.0260	10	0.32370	T	0.25	-12.9534	10.5797	0.45248	0.0:0.7441:0.0:0.2559	.	143	Q9BZH6	WDR11_HUMAN	I	143	ENSP00000263461:L143I	ENSP00000263461:L143I	L	+	1	0	WDR11	122609685	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.650000	0.46665	1.326000	0.45319	0.591000	0.81541	CTC		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			84	374	1	0	1.68136e-41	1	2.04314e-41	84	374					A	122619695	C	A	122619695	3	1	79	1	0	0	0	0	1	0	0	0	17327	797	28	3	441	3	WDR11	10	122619695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	927031	122619695	12915052	11461	21778											
WDR11	55717	broad.mit.edu	37	chr10	122626665	122626665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataaactcccagacctttcCttagataacatgattggtaa	5	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGACCTTTCCTTAGATAACA	0.363																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1276-1278)tcC>tcA		WD repeat domain 11							122	115	117					10																	122626665		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122626665C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1278C>A	10.37:g.122626665C>A							p.S426S	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			9	1524	+			426					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.1278C>A	CCDS7619.1																																																																																				0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			62	262	1	0	1.34159e-35	1	1.60235e-35	62	262					A	122626665	C	A	122626665	2	1	79	1	0	0	0	0	0	0	0	1	17327	668	24	3		3	WDR11	10	122626665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6970	122626665	12908082	11462	21779											
WDR11	55717	broad.mit.edu	37	chr10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcaagttcctgctgaCgggactgctttcaggactgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCCTGCTGACGGGACTGCTT	0.468																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1369-1371)aCg>aTg		WD repeat domain 11							111	95	100					10																	122630757		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122630757C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1370C>T	10.37:g.122630757C>T	ENSP00000263461:p.Thr457Met						p.T457M	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			10	1616	+			457					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1370C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242164	0.22796	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.29	5.29	0.74685	.	0.149594	0.64402	D	0.000016	D	0.89157	0.6635	L	0.54323	1.7	0.42261	D	0.992011	P;P	0.47910	0.902;0.902	B;B	0.38458	0.274;0.274	D	0.90896	0.4765	10	0.87932	D	0	-15.858	14.2591	0.66073	0.0:0.9264:0.0:0.0736	.	457;457	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	M	457	ENSP00000263461:T457M	ENSP00000263461:T457M	T	+	2	0	WDR11	122620747	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	4.530000	0.60595	2.468000	0.83385	0.591000	0.81541	ACG		0.468	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			82	286	0	0	0	1	0	82	286					T	122630757	C	T	122630757	3	4	79	1	0	0	0	0	1	0	0	0	17327	536	19	1	1408	1	WDR11	10	122630757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4092	122630757	12903990	11463	21780											
WDR11	55717	broad.mit.edu	37	chr10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgtctatgaagtctgCgtgctttagaatggatgaac	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAGTCTGCGTGCTTTAGA	0.433																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2482-2484)gCg>gTg		WD repeat domain 11							214	198	204					10																	122650367		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122650367C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2483C>T	10.37:g.122650367C>T	ENSP00000263461:p.Ala828Val					WDR11_ENST00000604509.1_Intron	p.A828V	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			19	2729	+			828					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2483C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188943	0.94923	.	.	ENSG00000120008	ENST00000263461	D	0.90444	-2.67	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.297552	0.37669	N	0.001989	D	0.86426	0.5930	L	0.36672	1.1	0.30098	N	0.807698	B;B;B;B	0.26975	0.063;0.063;0.165;0.046	B;B;B;B	0.18871	0.016;0.016;0.023;0.006	T	0.79193	-0.1904	10	0.28530	T	0.3	-3.5114	19.4182	0.94710	0.0:1.0:0.0:0.0	.	828;828;119;357	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	828	ENSP00000263461:A828V	ENSP00000263461:A828V	A	+	2	0	WDR11	122640357	0.949000	0.32298	0.010000	0.14722	0.888000	0.51559	7.348000	0.79366	2.575000	0.86900	0.655000	0.94253	GCG		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			128	506	0	0	0	1	0	128	506					T	122650367	C	T	122650367	3	4	79	1	0	0	0	0	1	0	0	0	17327	768	27	1	2557	1	WDR11	10	122650367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19610	122650367	12884380	11464	21781											
FGFR2	2263	broad.mit.edu	37	chr10	123256162	123256162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcataggagtactccatccCgggtggcctccgggctcgga	14	13	1	0	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	ENST00000358487.5	-	13	2019	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TACTCCATCCCGGGTGGCCTC	0.537		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1747-1749)Ggg>Agg		fibroblast growth factor receptor 2	Palifermin(DB00039)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	151	148	149		1747,1750,1411,1480,1402,1399,1396,1483,1750	5.3	0.9	10	dbSNP_134	149	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	125,125,125,125,125,125,125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	583/822,584/770,471/710,494/708,468/707,467/706,466/705,495/681,584/823	123256162	1,13005	2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256162C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1747G>A	10.37:g.123256162C>T	ENSP00000351276:p.Gly583Arg					FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R	p.G583R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2019	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	583			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1747G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338989	0.81911	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047777	0.85682	D	0.000000	D	0.92163	0.7515	N	0.21142	0.635	0.80722	D	1	P;P;D;D;D;P;D;D	0.89917	0.678;0.791;0.991;1.0;0.996;0.566;0.984;1.0	B;B;B;D;P;B;B;D	0.77004	0.205;0.13;0.325;0.963;0.609;0.081;0.379;0.989	D	0.93595	0.6925	10	0.87932	D	0	.	18.9702	0.92712	0.0:1.0:0.0:0.0	.	600;582;494;466;583;495;584;486	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	494;584;471;583;466;467;469;175;581;584;581;495;584;584;492	ENSP00000350166:G494R;ENSP00000358057:G471R;ENSP00000351276:G583R;ENSP00000348559:G466R;ENSP00000358056:G467R;ENSP00000358055:G469R;ENSP00000404219:G175R;ENSP00000263451:G581R;ENSP00000410294:G584R;ENSP00000309878:G581R;ENSP00000353262:G495R;ENSP00000358052:G584R;ENSP00000358054:G584R;ENSP00000337665:G492R	ENSP00000337665:G492R	G	-	1	0	FGFR2	123246152	1.000000	0.71417	0.926000	0.36857	0.880000	0.50808	7.722000	0.84778	2.464000	0.83262	0.549000	0.68633	GGG		0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		36	930	0	0	0	1	0	36	930					T	123256162	C	T	123256162	3	4	79	1	0	0	0	0	1	0	0	0	5891	652	23	1	846	1	FGFR2	10	123256162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605795	123256162	12278585	11465	21782											
ATE1	11101	broad.mit.edu	37	chr10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactgctggtgaaaggagCcatagccacaatctggccca	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000224652.6	-	9	1098	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000369043.3_Missense_Mutation_p.G338D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	338					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGAAAGGAGCCATAGCCACA	0.408																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1012-1014)gGc>gAc		arginyltransferase 1							46	41	43					10																	123600741		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123600741C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1013G>A	10.37:g.123600741C>T	ENSP00000224652:p.Gly338Asp					ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000224652.6_Missense_Mutation_p.G338D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D	p.G338D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			9	1099	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	338					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.1013G>A	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.393504|5.393504	0.96009|0.96009	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86451|.	0.5936|.	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.999;1.0;0.999|.	D|.	0.88736|.	0.3240|.	9|.	0.87932|.	D|.	0|.	-17.8215|-17.8215	19.7174|19.7174	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;242;338;338|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|X	338;39;338;242;331;223|334	.|.	ENSP00000224652:G338D|.	G|W	-|-	2|3	0|0	ATE1|ATE1	123590731|123590731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.786000|7.786000	0.85741|0.85741	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.408	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		18	91	0	0	0	1	0	18	91					T	123600741	C	T	123600741	3	4	79	1	0	0	0	0	1	0	0	0	1079	739	26	2	559	2	ATE1	10	123600741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344579	123600741	11934006	11466	21783											
ATE1	11101	broad.mit.edu	37	chr10	123661906	123661906	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaagtcctccaaagtacCtctaacttgtgtgatgcatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000224652.6	-	6	898	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000369043.3_Splice_Site_p.E271D|ATE1_ENST00000540606.1_Splice_Site_p.E264D|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000543447.1_Splice_Site_p.E156D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	271					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCAAAGTACCTCTAACTTGT	0.323																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e6+1		arginyltransferase 1							76	79	78					10																	123661906		2203	4300	6503	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123661906C>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.813+1G>T	10.37:g.123661906C>A						ATE1_ENST00000369040.3_Splice_Site_p.E175_splice|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Splice_Site_p.E264_splice|ATE1_ENST00000224652.6_Splice_Site_p.E271_splice|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Splice_Site_p.E156_splice	p.E271_splice	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			6	899	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	271					O95261|Q5SQQ3|Q8WW04	Splice_Site	SNP	ENST00000224652.6	37	c.813_splice	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140442|5.140442	0.94560|0.94560	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.89;0.944;0.98;1.0|.	P;P;P;D|.	0.76071|.	0.607;0.766;0.806;0.987|.	T|T	0.78099|0.78099	-0.2336|-0.2336	8|5	.|.	.|.	.|.	-21.7068|-21.7068	18.9376|18.9376	0.92592|0.92592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;175;271;271|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|C	271;271;175;264;156|268	.|.	.|.	E|G	-|-	3|1	2|0	ATE1|ATE1	123651896|123651896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.205000|7.205000	0.77881|0.77881	2.706000|2.706000	0.92434|0.92434	0.557000|0.557000	0.71058|0.71058	GAG|GGT		0.323	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Missense_Mutation	60	284	1	0	1.00798e-23	1	1.14783e-23	60	284					A	123661906	C	A	123661906	5	1	79	1	0	0	0	0	0	0	1	0	1079	695	24	3	904	3	ATE1	10	123661906	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61165	123661906	11872841	11467	21784											
NSMCE4A	54780	broad.mit.edu	37	chr10	123724800	123724800	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaacattttaaaacaaaCctgggcaggcattgccctct	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000369023.3	-	5	805		c.e5+1		NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000538652.1_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403																																						ENST00000538652.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.e5+1		non-SMC element 4 homolog A (S. cerevisiae)							79	80	80					10																	123724800		2203	4300	6503	SO:0001630	splice_region_variant	54780							g.chr10:123724800C>T	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"chromosome 10 open reading frame 86"	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.753+1G>A	10.37:g.123724800C>T						NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000369023.3_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site				Q9NXX6	NSE4A_HUMAN			5	914	-		all_neural(114;0.138)|Glioma(114;0.222)						Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Splice_Site	SNP	ENST00000369023.3	37		CCDS7624.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334152	0.60853	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123714790	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.561000	0.67339	2.516000	0.84829	0.655000	0.94253	.		0.403	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615	Intron	58	252	0	0	0	1	0	58	252					T	123724800	C	T	123724800	5	4	79	1	0	0	0	0	0	0	1	0	10719	521	18	2	427	2	NSMCE4A	10	123724800	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62894	123724800	11809947	11468	21785											
TACC2	10579	broad.mit.edu	37	chr10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaggacccacagggagCcagggggccagaaggttctt	16	9	1	1	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	87					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACAGGGAGCCAGGGGGCCA	0.642																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(259-261)gCc>gTc		transforming, acidic coiled-coil containing protein 2							70	72	71					10																	123842275		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842275C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.260C>T	10.37:g.123842275C>T	ENSP00000358001:p.Ala87Val					TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V	p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	600	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	87					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.260C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798907	0.90538	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.38;3.23;3.26;3.38;3.23	5.25	0.929	0.19449	.	0.000000	0.32884	N	0.005531	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21821	0.061;0.061;0.061	B;B;B	0.18263	0.021;0.021;0.021	T	0.34750	-0.9816	10	0.27082	T	0.32	-5.5343	3.659	0.08232	0.1595:0.3586:0.3879:0.094	.	87;87;87	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	87;87;87;87;87;77	ENSP00000358001:A87V;ENSP00000424467:A87V;ENSP00000427618:A87V;ENSP00000334280:A87V;ENSP00000395048:A87V	ENSP00000334280:A87V	A	+	2	0	TACC2	123832265	0.001000	0.12720	0.036000	0.18154	0.854000	0.48673	0.219000	0.17641	0.585000	0.29608	0.557000	0.71058	GCC		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			94	367	0	0	0	1	0	94	367					T	123842275	C	T	123842275	3	4	79	1	0	0	0	0	1	0	0	0	15554	739	26	2	270	2	TACC2	10	123842275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117475	123842275	11692472	11469	21786											
TACC2	10579	broad.mit.edu	37	chr10	123842452	123842452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggaacctgccccaaatgCcccaggagacatcgcggcgg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842452C>A	ENST00000369005.1	+	4	777	c.437C>A	c.(436-438)gCc>gAc	p.A146D	TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	146					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCCAAATGCCCCAGGAGAC	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(436-438)gCc>gAc		transforming, acidic coiled-coil containing protein 2							47	49	48					10																	123842452		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842452C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.437C>A	10.37:g.123842452C>A	ENSP00000358001:p.Ala146Asp					TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D	p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	777	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	146					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.437C>A	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.505840|2.505840	0.44558|0.44558	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03272|.	4.01;3.99;3.99;4.01;3.99|.	5.23|5.23	-1.12|-1.12	0.09808|0.09808	.|.	1.267400|.	0.06112|.	N|.	0.667338|.	T|.	0.21186|.	0.0510|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.002;0.002|.	B;B;B|.	0.10450|.	0.005;0.005;0.005|.	T|.	0.27400|.	-1.0075|.	10|.	0.62326|.	D|.	0.03|.	1.3028|1.3028	4.8562|4.8562	0.13561|0.13561	0.2379:0.2411:0.4451:0.0759|0.2379:0.2411:0.4451:0.0759	.|.	146;146;146|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	D|X	146;146;146;146;146;136|159	ENSP00000358001:A146D;ENSP00000424467:A146D;ENSP00000427618:A146D;ENSP00000334280:A146D;ENSP00000395048:A146D|.	ENSP00000334280:A146D|.	A|C	+|+	2|3	0|2	TACC2|TACC2	123832442|123832442	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.015000|0.015000	0.13355|0.13355	-0.557000|-0.557000	0.06126|0.06126	0.544000|0.544000	0.68410|0.68410	GCC|TGC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	388	1	0	0.00448238	1	0.00451339	9	388					A	123842452	C	A	123842452	3	1	79	1	0	0	0	0	1	0	0	0	15554	739	26	3	447	3	TACC2	10	123842452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	123842452	11692295	11470	21787											
TACC2	10579	broad.mit.edu	37	chr10	123842597	123842597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccttctccagtggcatCgaccagtcacctggaatgtc	8	14	3	0	rs559804804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000453444.2_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	194					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGTGGCATCGACCAGTCAC	0.567																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(580-582)atC>atT		transforming, acidic coiled-coil containing protein 2							32	30	31					10																	123842597		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842597C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.582C>T	10.37:g.123842597C>T						TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.I194I	p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	922	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	194					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.582C>T	CCDS7626.1																																																																																				0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			17	171	0	0	0	1	0	17	171					T	123842597	C	T	123842597	2	4	79	1	0	0	0	0	0	0	0	1	15554	874	31	1		1	TACC2	10	123842597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	123842597	11692150	11471	21788											
TACC2	10579	broad.mit.edu	37	chr10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatcccacaagatccaGccccaagagcctcagacaga	7	18	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	282					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAAGATCCAGCCCCAAGAGC	0.602																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(844-846)Gcc>Acc		transforming, acidic coiled-coil containing protein 2							55	66	62					10																	123842859		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842859G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.844G>A	10.37:g.123842859G>A	ENSP00000358001:p.Ala282Thr					TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T	p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	1184	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	282					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.844G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505395	0.64410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05319	3.57;3.49;3.46;3.57;3.49	5.57	2.68	0.31781	.	1.115670	0.07049	N	0.831536	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.43180	-0.9407	10	0.72032	D	0.01	-1.2979	5.5878	0.17283	0.1646:0.0:0.677:0.1584	.	282;282;282	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	282;282;282;282;282;272	ENSP00000358001:A282T;ENSP00000424467:A282T;ENSP00000427618:A282T;ENSP00000334280:A282T;ENSP00000395048:A282T	ENSP00000334280:A282T	A	+	1	0	TACC2	123832849	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.204000	0.17335	0.292000	0.22492	0.555000	0.69702	GCC		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			109	601	0	0	0	1	0	109	601					A	123842859	G	A	123842859	3	1	79	1	0	0	0	0	1	0	0	0	15554	971	34	2	854	2	TACC2	10	123842859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	123842859	11691888	11472	21789											
TACC2	10579	broad.mit.edu	37	chr10	123843830	123843830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggctttcagcagcaaGcgtgatccagaagtaggcaa	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000453444.2_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	605					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGCAGCAAGCGTGATCCAG	0.567																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1813-1815)aaG>aaA		transforming, acidic coiled-coil containing protein 2							70	67	68					10																	123843830		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843830G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1815G>A	10.37:g.123843830G>A						TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.K605K	p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2155	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	605					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1815G>A	CCDS7626.1																																																																																				0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			47	232	0	0	0	1	0	47	232					A	123843830	G	A	123843830	2	1	79	1	0	0	0	0	0	0	0	1	15554	962	34	2		2	TACC2	10	123843830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	123843830	11690917	11473	21790											
TACC2	10579	broad.mit.edu	37	chr10	123845303	123845303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaccagtgccggccccGcagcagaaaatggagtgctg	13	13	0	1	rs41288006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123845303G>A	ENST00000369005.1	+	4	3628	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000453444.2_Silent_p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1096					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCGGCCCCGCAGCAGAAAA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16793	0.0		0.001	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3286-3288)ccG>ccA		transforming, acidic coiled-coil containing protein 2		G	,	1,4405	2.1+/-5.4	0,1,2202	42	49	47		,3288	-3.2	0	10	dbSNP_127	47	11,8589	9.1+/-34.3	0,11,4289	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,	,1096/2949	123845303	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845303G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3288G>A	10.37:g.123845303G>A						TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P1096P	p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3628	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1096					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3288G>A	CCDS7626.1																																																																																				0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			21	402	0	0	0	1	0	21	402					A	123845303	G	A	123845303	2	1	79	1	0	0	0	0	0	0	0	1	15554	1074	38	1		1	TACC2	10	123845303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473	123845303	11689444	11474	21791											
TACC2	10579	broad.mit.edu	37	chr10	123989890	123989890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttagagtttgccatcatgCggatagaagccctgaagctg	12	8	1	3	rs567347253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123989890C>T	ENST00000369005.1	+	16	8402	c.8062C>T	c.(8062-8064)Cgg>Tgg	p.R2688W	TACC2_ENST00000515603.1_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCATCATGCGGATAGAAGC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18687	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8062-8064)Cgg>Tgg		transforming, acidic coiled-coil containing protein 2							139	132	134					10																	123989890		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123989890C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8062C>T	10.37:g.123989890C>T	ENSP00000358001:p.Arg2688Trp					TACC2_ENST00000369001.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000369004.3_Intron	p.R2688W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			16	8402	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2688					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8062C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342475	0.81911	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000368999;ENST00000260733	T;T;T;T;T;T	0.07327	3.65;3.32;3.65;3.32;3.2;3.2	5.92	4.95	0.65309	.	0.000000	0.32204	N	0.006425	T	0.15825	0.0381	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.02610	-1.1134	10	0.87932	D	0	-20.069	10.8248	0.46625	0.4815:0.5185:0.0:0.0	.	766;834;2688	O95359-1;O95359-5;O95359	.;.;TACC2_HUMAN	W	2688;834;2688;834;778;766	ENSP00000358001:R2688W;ENSP00000425062:R834W;ENSP00000334280:R2688W;ENSP00000350701:R834W;ENSP00000357995:R778W;ENSP00000260733:R766W	ENSP00000260733:R766W	R	+	1	2	TACC2	123979880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.894000	0.63206	1.432000	0.47375	0.655000	0.94253	CGG		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			11	523	0	0	0	1	0	11	523					T	123989890	C	T	123989890	3	4	79	1	0	0	0	0	1	0	0	0	15554	759	27	1	8192	1	TACC2	10	123989890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144587	123989890	11544857	11475	21792											
BTBD16	118663	broad.mit.edu	37	chr10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcattcatgataatgtCgaacacggtgagtagatcag	9	7	3	3	rs202210822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000260723.4	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		20447	0.001		0.001	False		,,,				2504	0.0					ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(10-12)tCg>tTg		BTB (POZ) domain containing 16							198	179	186					10																	124034607		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124034607C>T	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.11C>T	10.37:g.124034607C>T	ENSP00000260723:p.Ser4Leu					BTBD16_ENST00000260723.4_Missense_Mutation_p.S4L	p.S4L			Q32M84	BTBDG_HUMAN			2	262	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	4					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.11C>T	CCDS31301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.704	0.910321	0.17833	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19105	2.29;2.17	3.74	2.62	0.31277	.	1.302300	0.05746	N	0.602239	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.22109	T	0.4	0.0467	5.3294	0.15924	0.0:0.1349:0.0:0.8651	.	4;4	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	4	ENSP00000260723:S4L;ENSP00000357990:S4L	ENSP00000260723:S4L	S	+	2	0	BTBD16	124024597	0.007000	0.16637	0.068000	0.19968	0.001000	0.01503	0.223000	0.17719	0.797000	0.33971	-0.302000	0.09304	TCG		0.393	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		84	452	0	0	0	1	0	84	452					T	124034607	C	T	124034607	3	4	79	1	0	0	0	0	1	0	0	0	1545	893	31	1	13	1	BTBD16	10	124034607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44717	124034607	11500140	11476	21793											
PLEKHA1	59338	broad.mit.edu	37	chr10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcgaaggtacttcataCtggataccagagaagatagt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368990.3	+	2	225	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L32M	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	32	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTACTTCATACTGGATACCAG	0.363																																						ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(94-96)Ctg>Atg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							85	87	86					10																	124152810		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124152810C>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.94C>A	10.37:g.124152810C>A	ENSP00000357986:p.Leu32Met					PLEKHA1_ENST00000368990.3_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR	p.L32M			Q9HB21	PKHA1_HUMAN			2	217	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	32			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.94C>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170764	0.78452	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.08	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.983;1.0	D;D	0.91635	0.995;0.999	D	0.95196	0.8312	10	0.87932	D	0	-14.4662	12.7713	0.57423	0.0:0.8684:0.0:0.1316	.	32;32	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	32	ENSP00000357986:L32M;ENSP00000357985:L32M;ENSP00000357984:L32M;ENSP00000438608:L32M;ENSP00000376547:L32M;ENSP00000394416:L32M	ENSP00000357984:L32M	L	+	1	2	PLEKHA1	124142800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.991000	0.70602	0.917000	0.36895	-0.229000	0.12294	CTG		0.363	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		47	226	1	0	4.21674e-32	1	4.97474e-32	47	226					A	124152810	C	A	124152810	3	1	79	1	0	0	0	0	1	0	0	0	12097	564	20	3	96	3	PLEKHA1	10	124152810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	124152810	11381937	11477	21794											
HTRA1	5654	broad.mit.edu	37	chr10	124268275	124268275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcacggagtcccatgaccGacaggccaaaggtaggcaag	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124268275G>A	ENST00000368984.3	+	6	1237	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	370	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCCCATGACCGACAGGCCAAA	0.527																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1108-1110)cGa>cAa		HtrA serine peptidase 1							76	79	78					10																	124268275		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124268275G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1109G>A	10.37:g.124268275G>A	ENSP00000357980:p.Arg370Gln						p.R370Q	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			6	1237	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	370			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1109G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241792	0.79912	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.15139	2.45;2.45	5.16	5.16	0.70880	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.69823	2.125	0.80722	D	1	P	0.49862	0.929	B	0.26969	0.075	T	0.26258	-1.0108	10	0.72032	D	0.01	-10.4162	18.6471	0.91415	0.0:0.0:1.0:0.0	.	370	Q92743	HTRA1_HUMAN	Q	370;337;111	ENSP00000357980:R370Q;ENSP00000412676:R111Q	ENSP00000357980:R370Q	R	+	2	0	HTRA1	124258265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.620000	0.98373	2.410000	0.81850	0.655000	0.94253	CGA		0.527	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		11	463	0	0	0	1	0	11	463					A	124268275	G	A	124268275	3	1	79	1	0	0	0	0	1	0	0	0	7483	1058	37	1	1131	1	HTRA1	10	124268275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115465	124268275	11266472	11478	21795											
DMBT1	1755	broad.mit.edu	37	chr10	124333230	124333230	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttctccaccctgcaGgttctctgattccctcagag	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000338354.3	+	6	341		c.e6-1		DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCTGCAGGTTCTCTGAT	0.567																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.e6-1		deleted in malignant brain tumors 1							171	172	172					10																	124333230		1895	4118	6013	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124333230G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.236-1G>T	10.37:g.124333230G>T						DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site				Q9UGM3	DMBT1_HUMAN			6	341	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)						A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	37			.	.	.	.	.	.	.	.	.	.	G	10.40	1.338472	0.24253	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5416	0.39255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323220	0.992000	0.36948	0.685000	0.30070	0.024000	0.10985	3.215000	0.51169	1.949000	0.56562	0.655000	0.94253	.		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Intron	146	726	1	0	1.52797e-74	1	1.94704e-74	146	726					T	124333230	G	T	124333230	5	4	79	1	0	0	0	0	0	0	1	0	4593	1014	35	3	257	3	DMBT1	10	124333230	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64955	124333230	11201517	11479	21796											
DMBT1	1755	broad.mit.edu	37	chr10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgaatcctacctgtggaGctgcccccacaatggctggc	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000338354.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	180	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCTGTGGAGCTGCCCCCAC	0.577																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(538-540)aGc>aAc		deleted in malignant brain tumors 1							130	128	128					10																	124336170		2041	4193	6234	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336170G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.539G>A	10.37:g.124336170G>A	ENSP00000342210:p.Ser180Asn					DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N	p.S180N			Q9UGM3	DMBT1_HUMAN			7	645	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	180			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.539G>A		.	.	.	.	.	.	.	.	.	.	g	8.383	0.838009	0.16891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.41	-2.83	0.05769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.285370	0.05954	N	0.639375	T	0.38480	0.1042	N	0.11284	0.12	0.09310	N	0.999996	B;B;B;B;D;B	0.58970	0.069;0.001;0.067;0.002;0.984;0.169	B;B;B;B;D;B	0.63793	0.062;0.007;0.076;0.004;0.918;0.351	T	0.45352	-0.9267	10	0.16420	T	0.52	.	11.3067	0.49340	0.7997:0.0:0.2003:0.0	.	180;180;180;180;180;180	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	N	180	ENSP00000342210:S180N;ENSP00000343175:S180N;ENSP00000327747:S180N;ENSP00000357905:S180N;ENSP00000357951:S180N;ENSP00000357952:S180N;ENSP00000352593:S180N	ENSP00000331522:S180N	S	+	2	0	DMBT1	124326160	0.000000	0.05858	0.951000	0.38953	0.233000	0.25261	-0.058000	0.11750	-0.405000	0.07599	-0.794000	0.03295	AGC		0.577	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		47	529	0	0	0	1	0	47	529					A	124336170	G	A	124336170	3	1	79	1	0	0	0	0	1	0	0	0	4593	971	34	2	565	2	DMBT1	10	124336170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	124336170	11198577	11480	21797											
DMBT1	1755	broad.mit.edu	37	chr10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actactgggacaccaatgatGccaatgtggtctgcaggcag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000338354.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(802-804)Gcc>Tcc		deleted in malignant brain tumors 1							215	214	214					10																	124339216		2004	4169	6173	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339216G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.802G>T	10.37:g.124339216G>T	ENSP00000342210:p.Ala268Ser					DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S	p.A268S			Q9UGM3	DMBT1_HUMAN			10	908	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	268			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.802G>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.269065	0.80469	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79776	0.4504	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.986;0.999;0.619;0.999	D;D;D;P;D	0.91635	0.987;0.991;0.985;0.727;0.999	D	0.88134	0.2840	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	268	ENSP00000342210:A268S;ENSP00000343175:A268S;ENSP00000327747:A268S;ENSP00000357905:A268S;ENSP00000357951:A268S;ENSP00000357952:A268S	ENSP00000331522:A268S	A	+	1	0	DMBT1	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		52	2046	1	0	3.5997e-14	1	3.90403e-14	52	2046					T	124339216	G	T	124339216	3	4	79	1	0	0	0	0	1	0	0	0	4593	1319	46	3	840	3	DMBT1	10	124339216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3046	124339216	11195531	11481	21798											
DMBT1	1755	broad.mit.edu	37	chr10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttgaaggtggctgcaActatgattatattgaagttt	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000338354.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2060	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTGCAACTATGATTAT	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6178-6180)aAc>aCc		deleted in malignant brain tumors 1							116	112	113					10																	124395524		1974	4143	6117	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124395524A>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6179A>C	10.37:g.124395524A>C	ENSP00000342210:p.Asn2060Thr					DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T	p.N2060T			Q9UGM3	DMBT1_HUMAN			50	6285	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2060			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6179A>C		.	.	.	.	.	.	.	.	.	.	A	8.904	0.957041	0.18507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.41	-2.7	0.06004	CUB (5);	2.122320	0.02507	N	0.091111	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	P;B;B;P;B;B;B	0.46142	0.676;0.213;0.386;0.873;0.05;0.05;0.062	B;B;B;B;B;B;B	0.42282	0.254;0.06;0.124;0.382;0.049;0.049;0.081	T	0.33317	-0.9873	10	0.29301	T	0.29	.	10.5743	0.45219	0.4977:0.0:0.5023:0.0	.	780;2040;1309;2189;1432;2050;2060	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	T	2060;2189;2060;2060;2060;2059;1432;2050;1432;1432;2060;2050;1432;206;780	ENSP00000342210:N2060T;ENSP00000343175:N2050T;ENSP00000327747:N1432T;ENSP00000357905:N2060T;ENSP00000357951:N2050T;ENSP00000357952:N1432T;ENSP00000352593:N780T	ENSP00000331522:N1432T	N	+	2	0	DMBT1	124385514	0.000000	0.05858	0.013000	0.15412	0.431000	0.31685	-0.947000	0.03901	-0.414000	0.07495	-0.376000	0.06991	AAC		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		57	220	0	0	0	1	0	57	220					C	124395524	A	C	124395524	3	2	79	1	0	0	0	0	1	0	0	0	4593	43	2	4	6377	4	DMBT1	10	124395524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56308	124395524	11139223	11482	21799											
C10orf120	399814	broad.mit.edu	37	chr10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttggttggcatcaTcacaattatgggtgtcatag	9	7	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	221										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTGGCATCATCACAATTATG	0.403																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(661-663)gAt>gTt		chromosome 10 open reading frame 120							112	94	100					10																	124457595		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457595T>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.662A>T	10.37:g.124457595T>A	ENSP00000331012:p.Asp221Val						p.D221V	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	693	-		all_neural(114;0.169)|Glioma(114;0.222)	221					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.662A>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313421	0.40996	.	.	ENSG00000183559	ENST00000329446	T	0.35973	1.28	4.71	-2.4	0.06583	.	0.760985	0.11541	N	0.553777	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	0.999991	P	0.44044	0.825	B	0.43103	0.408	T	0.12142	-1.0559	10	0.36615	T	0.2	-2.5136	2.9532	0.05868	0.3016:0.2686:0.0:0.4298	.	221	Q5SQS8	CJ120_HUMAN	V	221	ENSP00000331012:D221V	ENSP00000331012:D221V	D	-	2	0	C10orf120	124447585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-0.525000	0.06391	-0.323000	0.08544	GAT		0.403	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		45	181	0	0	0	1	0	45	181					A	124457595	T	A	124457595	3	1	79	1	0	0	0	0	1	0	0	0	1595	1435	50	5	349	5	C10orf120	10	124457595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62071	124457595	11077152	11483	21800											
C10orf120	399814	broad.mit.edu	37	chr10	124457633	124457633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgtcttcctttcgtctGgccttattttttgccattgg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	208										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTTTCGTCTGGCCTTATTTT	0.448																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(622-624)gcC>gcT		chromosome 10 open reading frame 120							120	100	107					10																	124457633		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457633G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.624C>T	10.37:g.124457633G>A							p.A208A	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	655	-		all_neural(114;0.169)|Glioma(114;0.222)	208					B2RU17	Silent	SNP	ENST00000329446.4	37	c.624C>T	CCDS31302.1																																																																																				0.448	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		49	214	0	0	0	1	0	49	214					A	124457633	G	A	124457633	2	1	79	1	0	0	0	0	0	0	0	1	1595	1335	47	2		2	C10orf120	10	124457633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	124457633	11077114	11484	21801											
CUZD1	50624	broad.mit.edu	37	chr10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagatgcacactgttgaaaGgctggtttggagtttcttcc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H|CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACTGTTGAAAGGCTGGTTTGG	0.388																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1693-1695)cCt>cAt		CUB and zona pellucida-like domains 1							188	157	168					10																	124591924		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124591924G>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1694C>A	10.37:g.124591924G>T	ENSP00000357900:p.Pro565His					CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H|CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H	p.P565H			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	11	2643	-		all_neural(114;0.169)|Glioma(114;0.222)	565						Missense_Mutation	SNP	ENST00000368904.1	37	c.1694C>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892986	0.33442	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.40225	1.04;1.04;1.04	5.2	5.2	0.72013	.	0.184780	0.36268	N	0.002682	T	0.55909	0.1950	M	0.64997	1.995	0.09310	N	0.99999	D	0.71674	0.998	P	0.61328	0.887	T	0.50980	-0.8763	10	0.45353	T	0.12	-19.8253	11.8476	0.52393	0.0:0.0:0.7809:0.2191	.	565	Q86UP6	CUZD1_HUMAN	H	565;284;284;199;284;565;565	ENSP00000357900:P565H;ENSP00000441590:P565H;ENSP00000376540:P565H	ENSP00000340905:P199H	P	-	2	0	CUZD1	124581914	0.521000	0.26258	0.078000	0.20375	0.148000	0.21650	2.828000	0.48120	2.564000	0.86499	0.655000	0.94253	CCT		0.388	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		122	464	1	0	6.14176e-70	1	7.79703e-70	122	464					T	124591924	G	T	124591924	3	4	79	1	0	0	0	0	1	0	0	0	4077	1000	35	3	133	3	CUZD1	10	124591924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134291	124591924	10942823	11485	21802											
CUZD1	50624	broad.mit.edu	37	chr10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaattggattcaaaaagagCcatgctggtgttatatttgc	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAAAAGAGCCATGCTGGTG	0.343																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1192-1194)Gct>Act		CUB and zona pellucida-like domains 1							126	110	116					10																	124594412		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594412C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1192G>A	10.37:g.124594412C>T	ENSP00000357900:p.Ala398Thr					CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T|CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T	p.A398T			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2141	-		all_neural(114;0.169)|Glioma(114;0.222)	398			ZP.			Missense_Mutation	SNP	ENST00000368904.1	37	c.1192G>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126578	0.56721	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82167	-1.58;-1.58;-1.58	4.81	3.86	0.44501	Zona pellucida sperm-binding protein (3);	0.182978	0.45606	D	0.000341	D	0.83312	0.5227	L	0.46741	1.465	0.31908	N	0.615022	D	0.61080	0.989	P	0.57620	0.824	T	0.80997	-0.1132	10	0.18710	T	0.47	-12.2227	12.0467	0.53483	0.3723:0.6277:0.0:0.0	.	398	Q86UP6	CUZD1_HUMAN	T	398;117;117;32;117;398;398	ENSP00000357900:A398T;ENSP00000441590:A398T;ENSP00000376540:A398T	ENSP00000340905:A32T	A	-	1	0	CUZD1	124584402	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	0.854000	0.27791	2.217000	0.71921	0.460000	0.39030	GCT		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		45	231	0	0	0	1	0	45	231					T	124594412	C	T	124594412	3	4	79	1	0	0	0	0	1	0	0	0	4077	739	26	2	643	2	CUZD1	10	124594412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	124594412	10940335	11486	21803											
FAM24A	118670	broad.mit.edu	37	chr10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttctccttaggcatgGcaaagatgtttgatctcagg	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)		p.A2T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTTAGGCATGGCAAAGATGTT	0.502																																						ENST00000368894.1																			1	Substitution - Missense(1)	p.A2T(1)	large_intestine(1)	large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)Gca>Aca		family with sequence similarity 24, member A							302	253	270					10																	124671154		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671154G>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.4G>A	10.37:g.124671154G>A	ENSP00000357889:p.Ala2Thr						p.A2T	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	125	+		all_neural(114;0.169)|Glioma(114;0.222)	2						Missense_Mutation	SNP	ENST00000368894.1	37	c.4G>A	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701867	0.15172	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.15	-2.45	0.06481	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.24119	-1.0169	8	0.23302	T	0.38	.	6.5539	0.22450	0.0:0.1316:0.6108:0.2575	.	2	A6NFZ4	FA24A_HUMAN	T	2	.	ENSP00000357889:A2T	A	+	1	0	FAM24A	124661144	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.384000	0.01063	-0.482000	0.06782	-0.521000	0.04368	GCA		0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		30	920	0	0	0	1	0	30	920					A	124671154	G	A	124671154	3	1	79	1	0	0	0	0	1	0	0	0	5569	1203	42	2	6	2	FAM24A	10	124671154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76742	124671154	10863593	11487	21804											
C10orf88	80007	broad.mit.edu	37	chr10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtctttctccagagTcataatgtcttagaggtatc	8	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(1303-1305)gAc>gGc		chromosome 10 open reading frame 88							93	89	91					10																	124691977		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124691977T>C	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1304A>G	10.37:g.124691977T>C	ENSP00000419126:p.Asp435Gly					C10orf88_ENST00000368891.5_5'UTR	p.D435G	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1528	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	435					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1304A>G	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136030	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	3.67	0.42095	.	0.314175	0.26103	U	0.026322	T	0.53206	0.1782	M	0.69823	2.125	0.34834	D	0.740018	B	0.27997	0.197	B	0.28465	0.09	T	0.60954	-0.7160	9	0.66056	D	0.02	.	6.5949	0.22667	0.1534:0.0:0.1601:0.6865	.	435	Q9H8K7	CJ088_HUMAN	G	435	.	ENSP00000419126:D435G	D	-	2	0	C10orf88	124681967	0.996000	0.38824	0.979000	0.43373	0.974000	0.67602	0.855000	0.27805	0.655000	0.30866	0.533000	0.62120	GAC		0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		51	223	0	0	0	1	0	51	223					C	124691977	T	C	124691977	3	2	79	1	0	0	0	0	1	0	0	0	1627	1667	58	4	37	4	C10orf88	10	124691977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20823	124691977	10842770	11488	21805											
C10orf88	80007	broad.mit.edu	37	chr10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaatgtaatccataaGtttcttttccatcagttcca	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(1177-1179)Ctt>Ttt		chromosome 10 open reading frame 88							95	93	94					10																	124692104		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124692104G>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1177C>T	10.37:g.124692104G>A	ENSP00000419126:p.Leu393Phe					C10orf88_ENST00000368891.5_5'UTR	p.L393F	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1401	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	393					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1177C>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121303	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	.	0.000000	0.52532	U	0.000075	T	0.72045	0.3412	M	0.79475	2.455	0.40647	D	0.982001	D	0.89917	1.0	D	0.91635	0.999	T	0.74009	-0.3802	9	0.87932	D	0	.	7.8941	0.29695	0.2521:0.0:0.7479:0.0	.	393	Q9H8K7	CJ088_HUMAN	F	393	.	ENSP00000419126:L393F	L	-	1	0	C10orf88	124682094	1.000000	0.71417	0.622000	0.29159	0.897000	0.52465	2.723000	0.47277	1.081000	0.41110	-0.150000	0.13652	CTT		0.343	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		41	184	0	0	0	1	0	41	184					A	124692104	G	A	124692104	3	1	79	1	0	0	0	0	1	0	0	0	1627	1029	36	2	164	2	C10orf88	10	124692104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	124692104	10842643	11489	21806											
PSTK	118672	broad.mit.edu	37	chr10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgttttcagattcgttgGgcttttgccagctcttttta	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000368887.3	+	3	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000405485.1_Missense_Mutation_p.G173S|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	173					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGATTCGTTGGGCTTTTGCCA	0.383																																						ENST00000405485.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13						c.(517-519)Ggc>Agc		phosphoseryl-tRNA kinase							54	53	54					10																	124742796		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124742796G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.517G>A	10.37:g.124742796G>A	ENSP00000357882:p.Gly173Ser					PSTK_ENST00000368887.3_Missense_Mutation_p.G173S|PSTK_ENST00000497219.1_3'UTR	p.G173S			Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	3	583	+		all_neural(114;0.169)|Glioma(114;0.222)	173					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.517G>A	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552661|4.552661	0.86127|0.86127	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.28454|.	1.61;1.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.75085|0.75085	2.285|2.285	0.50632|0.50632	D|D	0.999881|0.999881	D|.	0.65815|.	0.995|.	D|.	0.71656|.	0.974|.	T|.	0.75736|.	-0.3213|.	10|.	0.08179|.	T|.	0.78|.	-5.2141|-5.2141	18.9646|18.9646	0.92691|0.92691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q8IV42|.	PSTK_HUMAN|.	S|X	173|173	ENSP00000357882:G173S;ENSP00000384764:G173S|.	ENSP00000357882:G173S|.	G|W	+|+	1|3	0|0	PSTK|PSTK	124732786|124732786	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.959000|0.959000	0.62525|0.62525	4.039000|4.039000	0.57325|0.57325	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.383	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		26	125	0	0	0	1	0	26	125					A	124742796	G	A	124742796	3	1	79	1	0	0	0	0	1	0	0	0	12767	1232	43	2	527	2	PSTK	10	124742796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50692	124742796	10791951	11490	21807											
ACADSB	36	broad.mit.edu	37	chr10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctgagcacgcagggCtctttctggtgatggcaaat	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000358776.4	+	5	660	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	216					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCACGCAGGGCTCTTTCTGGT	0.398																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(646-648)Ctc>Ttc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						138	133	135					10																	124800860		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800860C>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.646C>T	10.37:g.124800860C>T	ENSP00000357873:p.Leu216Phe					ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	p.L216F	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	5	660	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	216					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.646C>T	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640989	0.14386	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95482	-3.72;-3.72	6.01	2.67	0.31697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.191034	0.45126	D	0.000390	D	0.85923	0.5810	N	0.04636	-0.2	0.44899	D	0.997917	B	0.15930	0.015	B	0.18263	0.021	T	0.79766	-0.1665	10	0.27785	T	0.31	.	8.0122	0.30359	0.3112:0.3526:0.3362:0.0	.	216	P45954	ACDSB_HUMAN	F	114;216	ENSP00000357862:L114F;ENSP00000357873:L216F	ENSP00000357873:L216F	L	+	1	0	ACADSB	124790850	0.884000	0.30299	0.868000	0.34077	0.187000	0.23431	1.331000	0.33793	1.514000	0.48869	0.650000	0.86243	CTC		0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		110	569	0	0	0	1	0	110	569					T	124800860	C	T	124800860	3	4	79	1	0	0	0	0	1	0	0	0	115	797	28	2	664	2	ACADSB	10	124800860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58064	124800860	10733887	11491	21808											
ACADSB	36	broad.mit.edu	37	chr10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgatggcaaatgtagAccctaccattgtaagtttga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000358776.4	+	5	685	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	224					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCAAATGTAGACCCTACCATT	0.398																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(670-672)gAc>gGc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						123	119	120					10																	124800885		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800885A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.671A>G	10.37:g.124800885A>G	ENSP00000357873:p.Asp224Gly					ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	p.D224G	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	5	685	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	224					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.671A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	35	5.564262	0.96527	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99051	-5.37;-5.37	6.01	6.01	0.97437	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.203474	0.51477	D	0.000095	D	0.98349	0.9452	L	0.49256	1.55	0.47547	D	0.999456	P	0.35363	0.497	P	0.44673	0.457	D	0.99346	1.0913	10	0.66056	D	0.02	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	224	P45954	ACDSB_HUMAN	G	122;224	ENSP00000357862:D122G;ENSP00000357873:D224G	ENSP00000357873:D224G	D	+	2	0	ACADSB	124790875	1.000000	0.71417	0.451000	0.26982	0.662000	0.39071	8.954000	0.93051	2.307000	0.77673	0.528000	0.53228	GAC		0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		40	587	0	0	0	1	0	40	587					G	124800885	A	G	124800885	3	3	79	1	0	0	0	0	1	0	0	0	115	275	10	4	689	4	ACADSB	10	124800885	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25	124800885	10733862	11492	21809											
HMX2	3167	broad.mit.edu	37	chr10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcctcaggtacccccAagggcagcggaggctcgggc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	93					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(277-279)Aag>Gag		H6 family homeobox 2							25	34	31					10																	124909094		2116	4235	6351	SO:0001583	missense	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909094A>G		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.277A>G	10.37:g.124909094A>G	ENSP00000341108:p.Lys93Glu						p.K93E	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	534	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	93					B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	c.277A>G	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738077	0.49045	.	.	ENSG00000188816	ENST00000339992	D	0.89939	-2.59	4.79	4.79	0.61399	.	0.175281	0.48767	D	0.000163	T	0.77491	0.4138	L	0.27053	0.805	0.43857	D	0.996451	B	0.12013	0.005	B	0.09377	0.004	T	0.67995	-0.5526	10	0.05721	T	0.95	.	8.4983	0.33141	0.913:0.0:0.087:0.0	.	93	A2RU54	HMX2_HUMAN	E	93	ENSP00000341108:K93E	ENSP00000341108:K93E	K	+	1	0	HMX2	124899084	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	3.684000	0.54671	2.004000	0.58718	0.533000	0.62120	AAG		0.642	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		82	348	0	0	0	1	0	82	348					G	124909094	A	G	124909094	3	3	79	1	0	0	0	0	1	0	0	0	7277	131	5	4	283	4	HMX2	10	124909094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108209	124909094	10625653	11493	21810											
BUB3	9184	broad.mit.edu	37	chr10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccggctgattgtgggaAcagcaggccgcagagtgttg	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368865.4	+	5	669	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(460-462)Aca>Cca		BUB3 mitotic checkpoint protein							143	138	140					10																	124919965		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124919965A>C	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.460A>C	10.37:g.124919965A>C	ENSP00000357858:p.Thr154Pro					BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P	p.T154P	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			5	669	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	154					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.460A>C	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898435	0.91962	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.72394	-0.65;1.44;-0.65;-0.65	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101842	0.64402	D	0.000003	T	0.81866	0.4913	H	0.96142	3.775	0.80722	D	1	P;B	0.43024	0.798;0.412	B;B	0.42343	0.384;0.148	D	0.87596	0.2494	10	0.72032	D	0.01	0.0523	15.4116	0.74929	1.0:0.0:0.0:0.0	.	154;154	O43684;O43684-2	BUB3_HUMAN;.	P	154;74;154;154	ENSP00000357858:T154P;ENSP00000444354:T74P;ENSP00000357851:T154P;ENSP00000383941:T154P	ENSP00000357851:T154P	T	+	1	0	BUB3	124909955	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	ACA		0.488	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			130	604	0	0	0	1	0	130	604					C	124919965	A	C	124919965	3	2	79	1	0	0	0	0	1	0	0	0	1576	43	2	4	474	4	BUB3	10	124919965	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10871	124919965	10614782	11494	21811											
GPR26	2849	broad.mit.edu	37	chr10	125426094	125426094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacctgctgtgcaccgtGgtcaacatgccgctcacgct	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	ENST00000284674.1	+	1	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	57					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTGCACCGTGGTCAACATGC	0.721																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(169-171)gtG>gtA		G protein-coupled receptor 26							10	10	10					10																	125426094		2172	4269	6441	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426094G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.171G>A	10.37:g.125426094G>A							p.V57V	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	224	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	57					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.171G>A	CCDS7636.1																																																																																				0.721	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			11	58	0	0	0	1	0	11	58					A	125426094	G	A	125426094	2	1	79	1	0	0	0	0	0	0	0	1	6713	1335	47	2		2	GPR26	10	125426094	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506129	125426094	10108653	11495	21812											
GPR26	2849	broad.mit.edu	37	chr10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtgtactccttactgCgacaccagtaccgcaaaagc	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597																																						ENST00000284674.1																			1	Substitution - Nonsense(1)	p.R298*(1)	breast(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(892-894)Cga>Tga		G protein-coupled receptor 26							84	74	78					10																	125447554		2203	4300	6503	SO:0001587	stop_gained	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125447554C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.892C>T	10.37:g.125447554C>T	ENSP00000284674:p.Arg298*						p.R298*	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			3	945	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	298					Q2M2E2	Nonsense_Mutation	SNP	ENST00000284674.1	37	c.892C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	GPR26	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			65	379	0	0	0	1	0	65	379					T	125447554	C	T	125447554	4	4	79	1	0	0	0	0	0	1	0	0	6713	760	27	1	902	1	GPR26	10	125447554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21460	125447554	10087193	11496	21813											
CHST15	51363	broad.mit.edu	37	chr10	125804220	125804220	+	Silent	SNP	C	C	T													tgccctatgatgtagaagtgCggcaggcagcgcaggcggaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(760-762)ccG>ccA		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							43	44	44					10																	125804220		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804220C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	10.37:g.125804220C>T						CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000421115.1_Silent_p.P254P	p.P254P	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1404	-			254					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.762G>A	CCDS7638.1																																																																																				0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		47	174	0	0	0	1	0	47	174					T	125804220	C	T	125804220	2	4	79	1	0	0	0	0	0	0	0	1	3412	755	27	1		1	CHST15	10	125804220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356666	125804220	9730527	11497	21814	135	2									
CHST15	51363	broad.mit.edu	37	chr10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T													tgtagaagtgcggcaggcagCgcaggcggaagtgcttcccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	251					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(751-753)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							50	50	50					10																	125804230		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804230C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.752G>A	10.37:g.125804230C>T	ENSP00000333947:p.Arg251His					CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	p.R251H	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1394	-			251					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.752G>A	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551568	0.96501	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.74150	-0.3758	10	0.87932	D	0	-33.2708	17.9025	0.88909	0.0:1.0:0.0:0.0	.	251;251	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	251	ENSP00000333947:R251H;ENSP00000402394:R251H;ENSP00000412477:R251H	ENSP00000333947:R251H	R	-	2	0	CHST15	125794220	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	CGC		0.652	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		51	169	0	0	0	1	0	51	169					T	125804230	C	T	125804230	3	4	79	1	0	0	0	0	1	0	0	0	3412	768	27	1	957	1	CHST15	10	125804230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	125804230	9730517	11498	21815	135	2									
OAT	4942	broad.mit.edu	37	chr10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtgaaatacctccagtgCgggcagatcattatagggaa	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	214					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	ACCTCCAGTGCGGGCAGATCA	0.403																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(640-642)Gca>Aca		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						102	87	92					10																	126094013		2203	4300	6503	SO:0001583	missense	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126094013C>T	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.640G>A	10.37:g.126094013C>T	ENSP00000357838:p.Ala214Thr					OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	p.A214T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN			5	732	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	214					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	c.640G>A	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704650	0.68615	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.105835	0.64402	D	0.000005	D	0.98880	0.9621	M	0.86864	2.845	0.80722	D	1	P	0.51351	0.944	P	0.48524	0.58	D	0.99880	1.1112	10	0.66056	D	0.02	-16.4873	17.8803	0.88838	0.0:1.0:0.0:0.0	.	214	P04181	OAT_HUMAN	T	76;214	ENSP00000439042:A76T;ENSP00000357838:A214T	ENSP00000357838:A214T	A	-	1	0	OAT	126084003	0.999000	0.42202	0.990000	0.47175	0.639000	0.38242	3.565000	0.53798	2.406000	0.81754	0.563000	0.77884	GCA		0.403	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		31	324	0	0	0	1	0	31	324					T	126094013	C	T	126094013	3	4	79	1	0	0	0	0	1	0	0	0	10845	768	27	1	703	1	OAT	10	126094013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289783	126094013	9440734	11499	21816											
OAT	4942	broad.mit.edu	37	chr10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaacgtaccttttcctctctCcagggctacaggtaaaggat	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	63					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TTTCCTCTCTCCAGGGCTACA	0.348																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(187-189)Gag>Tag		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						113	109	111					10																	126100554		2203	4300	6503	SO:0001587	stop_gained	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126100554C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.187G>T	10.37:g.126100554C>A	ENSP00000357838:p.Glu63*					OAT_ENST00000539214.1_Intron	p.E63*	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN			2	279	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	63					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	ENST00000368845.5	37	c.187G>T	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787899	0.96945	.	.	ENSG00000065154	ENST00000368845	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.0584	16.7883	0.85580	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000357838:E63X	E	-	1	0	OAT	126090544	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.478000	0.81082	2.115000	0.64714	0.555000	0.69702	GAG		0.348	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		115	510	1	0	2.76158e-55	1	3.45054e-55	115	510					A	126100554	C	A	126100554	4	1	79	1	0	0	0	0	0	1	0	0	10845	864	30	3	1168	3	OAT	10	126100554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6541	126100554	9434193	11500	21817											
FAM53B	9679	broad.mit.edu	37	chr10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggctttcacttaGgaccatcaccatgataaggg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000337318.3	-	2	224	c.13C>A	c.(13-15)Cta>Ata	p.L5I	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000432699.1_RNA|RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	5										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTTCACTTAGGACCATCACC	0.592																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(13-15)Cta>Ata		family with sequence similarity 53, member B							113	107	109					10																	126395270		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126395270G>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.13C>A	10.37:g.126395270G>T	ENSP00000338532:p.Leu5Ile					RP11-464O2.2_ENST00000432699.1_RNA|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I	p.L5I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	2	224	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	5					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.13C>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779685	0.31502	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.40756	1.02;1.02;1.02	4.61	3.71	0.42584	.	0.405020	0.23889	N	0.043562	T	0.41213	0.1149	N	0.24115	0.695	0.27832	N	0.941414	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.24621	-1.0155	10	0.02654	T	1	-2.5053	10.2122	0.43147	0.0941:0.0:0.9059:0.0	.	5;5;5	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	5	ENSP00000338532:L5I;ENSP00000376509:L5I;ENSP00000280780:L5I	ENSP00000280780:L5I	L	-	1	2	FAM53B	126385260	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.337000	0.43947	1.319000	0.45190	0.655000	0.94253	CTA		0.592	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		15	525	1	0	9.16793e-09	1	9.60025e-09	15	525					T	126395270	G	T	126395270	3	4	79	1	0	0	0	0	1	0	0	0	5605	991	35	3	1271	3	FAM53B	10	126395270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294716	126395270	9139477	11501	21818											
CTBP2	1488	broad.mit.edu	37	chr10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtgaggagtgcagAtgagattcggggcatctttc	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000337195.5	-	9	1349	c.950T>G	c.(949-951)aTc>aGc	p.I317S	CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000309035.6_Missense_Mutation_p.I857S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	317					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2569-2571)aTc>aGc		C-terminal binding protein 2							36	33	34					10																	126681860		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126681860A>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.950T>G	10.37:g.126681860A>C	ENSP00000338615:p.Ile317Ser					CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000337195.5_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S	p.I857S	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	7	2700	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	317					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2570T>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261020	0.80246	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.72	4.72	0.59763	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	14.3858	0.66942	1.0:0.0:0.0:0.0	.	317;857;385	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	S	317;857;385;317;317;317	ENSP00000338615:I317S;ENSP00000311825:I857S;ENSP00000357816:I385S;ENSP00000434630:I317S;ENSP00000436285:I317S;ENSP00000410474:I317S	ENSP00000311825:I857S	I	-	2	0	CTBP2	126671850	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	8.729000	0.91490	1.991000	0.58162	0.459000	0.35465	ATC		0.562	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		17	128	0	0	0	1	0	17	128					C	126681860	A	C	126681860	3	2	79	1	0	0	0	0	1	0	0	0	4009	333	12	4	399	4	CTBP2	10	126681860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	286590	126681860	8852887	11502	21819											
CTBP2	1488	broad.mit.edu	37	chr10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgaacttctccaggTcctccctggtgagggtgatg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000337195.5	-	5	671	c.272A>G	c.(271-273)gAc>gGc	p.D91G	CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000309035.6_Missense_Mutation_p.D631G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	91					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1891-1893)gAc>gGc		C-terminal binding protein 2							88	69	75					10																	126691615		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126691615T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.272A>G	10.37:g.126691615T>C	ENSP00000338615:p.Asp91Gly					CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000337195.5_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G	p.D631G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	2022	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	91					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1892A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001605	0.74818	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.94	4.94	0.65067	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.80723	-0.1255	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.0:0.0:1.0	.	91;631;159	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	G	91;631;159;91;91;91	ENSP00000338615:D91G;ENSP00000311825:D631G;ENSP00000357816:D159G;ENSP00000434630:D91G;ENSP00000436285:D91G;ENSP00000410474:D91G	ENSP00000311825:D631G	D	-	2	0	CTBP2	126681605	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.033000	0.88852	1.998000	0.58463	0.459000	0.35465	GAC		0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		13	313	0	0	0	1	0	13	313					C	126691615	T	C	126691615	3	2	79	1	0	0	0	0	1	0	0	0	4009	1667	58	4	1093	4	CTBP2	10	126691615	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9755	126691615	8843132	11503	21820											
CTBP2	1488	broad.mit.edu	37	chr10	126715800	126715800	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgctctgtgtctgccGcccctgagggatcattttac	10	14	3	1	rs561396108	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126715800G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R177W	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTGTCTGCCGCCCCTGAGGG	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		16704	0.0		0.0	False		,,,				2504	0.002					ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(529-531)Cgg>Tgg		C-terminal binding protein 2							31	33	33					10																	126715800		2202	4300	6502	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715800G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11765C>T	10.37:g.126715800G>A						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	p.R177W	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	659	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.529C>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029432	0.54790	.	.	ENSG00000175029	ENST00000309035	D	0.83075	-1.68	4.3	4.3	0.51218	.	0.432624	0.19969	N	0.102040	T	0.82157	0.4976	.	.	.	0.80722	D	1	D	0.54964	0.969	B	0.43123	0.409	D	0.86056	0.1529	9	0.87932	D	0	.	17.331	0.87264	0.0:0.0:1.0:0.0	.	177	P56545-2	.	W	177	ENSP00000311825:R177W	ENSP00000311825:R177W	R	-	1	2	CTBP2	126705790	1.000000	0.71417	0.464000	0.27143	0.645000	0.38454	9.333000	0.96459	2.409000	0.81822	0.655000	0.94253	CGG		0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		67	294	0	0	0	1	0	67	294					A	126715800	G	A	126715800	1	1	79	0	1	0	0	0	0	0	0	0	4009	1086	38	1		1	CTBP2	10	126715800	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24185	126715800	8818947	11504	21821											
C10orf137	26098	broad.mit.edu	37	chr10	127421991	127421991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatatgaaatgataaagAcagaagaaattcccaatttg	7	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127421991A>G	ENST00000356792.4	+	10	1379	c.1147A>G	c.(1147-1149)Aca>Gca	p.T383A	C10orf137_ENST00000337623.3_Missense_Mutation_p.T349A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGATAAAGACAGAAGAAAT	0.279																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(1045-1047)Aca>Gca		chromosome 10 open reading frame 137							13	14	13					10																	127421991		2160	4243	6403	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127421991A>G																												ENST00000356792.4:c.1147A>G	10.37:g.127421991A>G	ENSP00000349244:p.Thr383Ala					C10orf137_ENST00000356792.4_Missense_Mutation_p.T383A	p.T349A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			9	1150	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	383					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.1045A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682974	0.88542	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11712	2.75;2.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.76071	0.981;0.987;0.971	T	0.19095	-1.0316	10	0.59425	D	0.04	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	383;349;383	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	A	383;383;349	ENSP00000349244:T383A;ENSP00000336727:T349A	ENSP00000336727:T349A	T	+	1	0	C10orf137	127411981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.326000	0.78906	0.533000	0.62120	ACA		0.279	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			10	41	0	0	0	1	0	10	41					G	127421991	A	G	127421991	3	3	79	1	0	0	0	0	1	0	0	0	1599	275	10	4	1079	4	C10orf137	10	127421991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	706191	127421991	8112756	11505	21822											
C10orf137	26098	broad.mit.edu	37	chr10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcagtatatttgagtctCggttgtcatttcttctcctt	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000356792.4	+	24	3716	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	C10orf137_ENST00000337623.3_Missense_Mutation_p.R1128W|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(3382-3384)Cgg>Tgg		chromosome 10 open reading frame 137							147	137	141					10																	127442353		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127442353C>T																												ENST00000356792.4:c.3484C>T	10.37:g.127442353C>T	ENSP00000349244:p.Arg1162Trp					C10orf137_ENST00000356792.4_Missense_Mutation_p.R1162W	p.R1128W	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			23	3487	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1162					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.3382C>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748506	0.69533	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.054356	0.64402	D	0.000001	T	0.61590	0.2359	M	0.68952	2.095	0.54753	D	0.999982	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70935	0.9;0.971;0.928	T	0.64445	-0.6406	10	0.87932	D	0	.	14.4869	0.67624	0.156:0.844:0.0:0.0	.	1162;509;1128	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	W	1162;1128	ENSP00000349244:R1162W;ENSP00000336727:R1128W	ENSP00000336727:R1128W	R	+	1	2	C10orf137	127432343	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.843000	0.55865	2.627000	0.88993	0.655000	0.94253	CGG		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			65	303	0	0	0	1	0	65	303					T	127442353	C	T	127442353	3	4	79	1	0	0	0	0	1	0	0	0	1599	875	31	1	3472	1	C10orf137	10	127442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20362	127442353	8092394	11506	21823											
MMP21	118856	broad.mit.edu	37	chr10	127456127	127456127	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgaagaagtaaattaActtctgtcttcggtcataaa	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	462					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AAGTAAATTAACTTCTGTCTT	0.423																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1384-1386)Tta>Cta		matrix metallopeptidase 21							114	111	112					10																	127456127		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127456127A>G	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1384T>C	10.37:g.127456127A>G							p.L462L	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			6	1383	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	462			Hemopexin-like 3.		Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.1384T>C	CCDS7647.1																																																																																				0.423	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			75	249	0	0	0	1	0	75	249					G	127456127	A	G	127456127	2	3	79	1	0	0	0	0	0	0	0	1	9701	40	2	4		4	MMP21	10	127456127	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13774	127456127	8078620	11507	21824											
MMP21	118856	broad.mit.edu	37	chr10	127459093	127459093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctaaatctcaccatcacCtctccatattggtttctctc	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	349			E -> G (in dbSNP:rs28381302). {ECO:0000269|Ref.3}.		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TCACCATCACCTCTCCATATT	0.418																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1045-1047)gaG>gaA		matrix metallopeptidase 21							187	168	175					10																	127459093		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127459093C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1047G>A	10.37:g.127459093C>T							p.E349E	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			5	1046	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	349		E -> G (in dbSNP:rs28381302).	Hemopexin-like 1.		Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.1047G>A	CCDS7647.1																																																																																				0.418	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			90	412	0	0	0	1	0	90	412					T	127459093	C	T	127459093	2	4	79	1	0	0	0	0	0	0	0	1	9701	680	24	2		2	MMP21	10	127459093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2966	127459093	8075654	11508	21825											
MMP21	118856	broad.mit.edu	37	chr10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgaatgtcacctaggCgccaggcgtgtgcaaactcc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	254					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GTCACCTAGGCGCCAGGCGTG	0.637																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(760-762)cGc>cAc		matrix metallopeptidase 21							123	102	109					10																	127461256		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127461256C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.761G>A	10.37:g.127461256C>T	ENSP00000357798:p.Arg254His						p.R254H	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			3	760	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	254					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.761G>A	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389139	0.25118	.	.	ENSG00000154485	ENST00000368808	T	0.17854	2.25	4.51	0.116	0.14647	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.522000	0.20933	N	0.083075	T	0.09379	0.0231	L	0.32530	0.975	0.37047	D	0.897399	B	0.15141	0.012	B	0.14023	0.01	T	0.20505	-1.0273	10	0.25106	T	0.35	-19.268	2.7793	0.05356	0.3403:0.3532:0.0:0.3065	.	254	Q8N119	MMP21_HUMAN	H	254	ENSP00000357798:R254H	ENSP00000357798:R254H	R	-	2	0	MMP21	127451246	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.563000	0.23547	0.150000	0.19136	0.561000	0.74099	CGC		0.637	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			70	267	0	0	0	1	0	70	267					T	127461256	C	T	127461256	3	4	79	1	0	0	0	0	1	0	0	0	9701	768	27	1	968	1	MMP21	10	127461256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	127461256	8073491	11509	21826											
UROS	7390	broad.mit.edu	37	chr10	127503679	127503679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaaaaatgagtcccccGtaatcttcaggatgagaaag	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368797.4	-	4	392	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368778.3_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	56					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438																																						ENST00000368778.3																			0				endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7						c.(166-168)taC>taT		uroporphyrinogen III synthase							86	85	85					10																	127503679		2203	4300	6503	SO:0001819	synonymous_variant	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127503679G>A	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"congenital erythropoietic porphyria"	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.168C>T	10.37:g.127503679G>A						UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368797.4_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	p.Y56Y			P10746	HEM4_HUMAN			4	361	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	56					B2RC13|D3DRF7|Q9H2T1	Silent	SNP	ENST00000368797.4	37	c.168C>T	CCDS7648.1																																																																																				0.438	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		30	169	0	0	0	1	0	30	169					A	127503679	G	A	127503679	2	1	79	1	0	0	0	0	0	0	0	1	17084	1140	40	1		1	UROS	10	127503679	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42423	127503679	8031068	11510	21827											
BCCIP	56647	broad.mit.edu	37	chr10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaacactgcagaactaacaGatctcttaattcaacagaac	5	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000278100.6	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000299130.3_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	94	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(280-282)Gat>Tat		BRCA2 and CDKN1A interacting protein							108	113	111					10																	127516166		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127516166G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.280G>T	10.37:g.127516166G>T	ENSP00000278100:p.Asp94Tyr					BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000278100.6_Missense_Mutation_p.D94Y	p.D94Y	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			3	292	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	94			Interaction with BRCA2.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.280G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116374	0.56505	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.57	-0.773	0.10995	.	0.449301	0.25944	N	0.027300	T	0.69904	0.3163	M	0.92412	3.305	0.18873	N	0.999987	D;D;D;D;D	0.69078	0.993;0.992;0.995;0.997;0.979	D;D;D;D;D	0.73380	0.98;0.951;0.966;0.939;0.949	T	0.63175	-0.6696	10	0.87932	D	0	-1.4088	10.1274	0.42658	0.4075:0.0:0.5925:0.0	.	94;94;94;94;94	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	Y	94	ENSP00000278100:D94Y;ENSP00000299130:D94Y;ENSP00000357748:D94Y;ENSP00000394758:D94Y	ENSP00000278100:D94Y	D	+	1	0	BCCIP	127506156	0.828000	0.29307	0.003000	0.11579	0.970000	0.65996	1.817000	0.39002	-0.157000	0.11059	0.655000	0.94253	GAT		0.308	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			79	317	1	0	1.48072e-28	1	1.72364e-28	79	317					T	127516166	G	T	127516166	3	4	79	1	0	0	0	0	1	0	0	0	1357	942	33	3	290	3	BCCIP	10	127516166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12487	127516166	8018581	11511	21828											
DHX32	55760	broad.mit.edu	37	chr10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggtaaagtgatctccttCgggatgtaaaaatgtcttcc	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_ENST00000429863.2_Intron|AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	541						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATCTCCTTCGGGATGTAAA	0.413																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1621-1623)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							165	143	150					10																	127529488		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127529488C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1621G>A	10.37:g.127529488C>T	ENSP00000284690:p.Glu541Lys					BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K	p.E541K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			8	2111	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	541					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1621G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908434	0.92107	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02579	4.24;4.24;4.24	4.75	4.75	0.60458	Helicase-associated domain (2);	0.165187	0.52532	D	0.000075	T	0.08891	0.0220	M	0.88450	2.955	0.53688	D	0.999973	P	0.41214	0.742	B	0.39258	0.295	T	0.02457	-1.1156	10	0.87932	D	0	-11.2385	16.4963	0.84246	0.0:1.0:0.0:0.0	.	541	Q7L7V1	DHX32_HUMAN	K	165;541;460	ENSP00000357710:E165K;ENSP00000284690:E541K;ENSP00000284688:E460K	ENSP00000284688:E460K	E	-	1	0	DHX32	127519478	0.996000	0.38824	0.988000	0.46212	0.956000	0.61745	4.222000	0.58580	2.470000	0.83445	0.655000	0.94253	GAA		0.413	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		139	519	0	0	0	1	0	139	519					T	127529488	C	T	127529488	3	4	79	1	0	0	0	0	1	0	0	0	4521	893	31	1	626	1	DHX32	10	127529488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13322	127529488	8005259	11512	21829											
DHX32	55760	broad.mit.edu	37	chr10	127542554	127542554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctttccacacccacatcGataacaaatctgactgagtt	4	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	356						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACCCACATCGATAACAAATC	0.378																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1066-1068)atC>atT		DEAH (Asp-Glu-Ala-His) box polypeptide 32							130	128	129					10																	127542554		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127542554G>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1068C>T	10.37:g.127542554G>A						DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	p.I356I	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			4	1558	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	356					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.1068C>T	CCDS7652.1																																																																																				0.378	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		90	414	0	0	0	1	0	90	414					A	127542554	G	A	127542554	2	1	79	1	0	0	0	0	0	0	0	1	4521	1048	37	1		1	DHX32	10	127542554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13066	127542554	7992193	11513	21830											
ADAM12	8038	broad.mit.edu	37	chr10	127786984	127786984	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaatgcccttggcttaCcatgacaattcccccagact	5	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGGCTTACCATGACAATT	0.473																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e10+1		ADAM metallopeptidase domain 12							164	152	156					10																	127786984		2203	4300	6503	SO:0001630	splice_region_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127786984C>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1005+1G>T	10.37:g.127786984C>A						ADAM12_ENST00000368676.4_Splice_Site		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	10	1315	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)						O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Splice_Site	SNP	ENST00000368679.4	37		CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347383	0.82022	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM12	127776974	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	.		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		Intron	164	646	1	0	2.95651e-86	1	3.79019e-86	164	646					A	127786984	C	A	127786984	5	1	79	1	0	0	0	0	0	0	1	0	236	521	18	3	1887	3	ADAM12	10	127786984	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244430	127786984	7747763	11514	21831											
ADAM12	8038	broad.mit.edu	37	chr10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcttttcagcttcttcGctgggaagagtttgtatctg	12	8	3	1	rs181811173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	169					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGCTTCTTCGCTGGGAAGAG	0.438													g|||	1	0.000199681	0.0	0.0	5008	,	,		18340	0.001		0.0	False		,,,				2504	0.0					ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(505-507)gCg>gTg		ADAM metallopeptidase domain 12							155	135	142					10																	127806713		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127806713G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.506C>T	10.37:g.127806713G>A	ENSP00000357668:p.Ala169Val					ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	6	815	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	169					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.506C>T	CCDS7653.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	8.805	0.933822	0.18206	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21191	4.79;2.02;3.73	5.03	-1.72	0.08107	.	0.447781	0.22012	N	0.065856	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29627	0.164;0.252;0.252;0.252;0.095	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.053;0.016	T	0.32481	-0.9905	10	0.13853	T	0.58	.	2.4903	0.04608	0.3193:0.1111:0.4559:0.1137	.	166;166;169;166;169	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	169;169;166	ENSP00000357668:A169V;ENSP00000357665:A169V;ENSP00000391268:A166V	ENSP00000357665:A169V	A	-	2	0	ADAM12	127796703	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.068000	0.14531	-0.872000	0.04037	-1.731000	0.00696	GCG		0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			36	418	0	0	0	1	0	36	418					A	127806713	G	A	127806713	3	1	79	1	0	0	0	0	1	0	0	0	236	1087	38	1	2403	1	ADAM12	10	127806713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19729	127806713	7728034	11515	21832											
DOCK1	1793	broad.mit.edu	37	chr10	128908593	128908593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgcttgatcgaaatcgtCcacagtgacctcttcacaca	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	845					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCGAAATCGTCCACAGTGACC	0.428																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2533-2535)gtC>gtT		dedicator of cytokinesis 1							81	76	78					10																	128908593		1920	4148	6068	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128908593C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2535C>T	10.37:g.128908593C>T							p.V845V	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	25	2644	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	845					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2535C>T																																																																																					0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		21	74	0	0	0	1	0	21	74					T	128908593	C	T	128908593	2	4	79	1	0	0	0	0	0	0	0	1	4700	842	30	2		2	DOCK1	10	128908593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101880	128908593	6626154	11516	21833											
FAM196A	642938	broad.mit.edu	37	chr10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttctccatcatctgaAgttgtgctttgaggtcgacc	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	362										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCATCTGAAGTTGTGCTTT	0.537																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1084-1086)cTt>cGt		family with sequence similarity 196, member A							175	181	179					10																	128973575		2203	4300	6503	SO:0001583	missense	642938							g.chr10:128973575A>C		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1085T>G	10.37:g.128973575A>C	ENSP00000429763:p.Leu362Arg					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1640	-			362					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.1085T>G	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296272	0.81025	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.72615	-0.67;-0.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83164	-0.0097	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	362;362	B7ZME7;Q6ZSG2	.;F196A_HUMAN	R	362	ENSP00000429763:L362R;ENSP00000428730:L362R	ENSP00000428730:L362R	L	-	2	0	FAM196A	128863565	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.832000	0.92079	2.047000	0.60756	0.460000	0.39030	CTT		0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		224	960	0	0	0	1	0	224	960					C	128973575	A	C	128973575	3	2	79	1	0	0	0	0	1	0	0	0	5549	72	3	4	366	4	FAM196A	10	128973575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64982	128973575	6561172	11517	21834											
DOCK1	1793	broad.mit.edu	37	chr10	129160443	129160443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctttgatatgatgcaGtgtgaattccattcgacccg	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1112					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATATGATGCAGTGTGAATTCC	0.488																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(3334-3336)caG>caA		dedicator of cytokinesis 1							64	63	63					10																	129160443		2102	4255	6357	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129160443G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3336G>A	10.37:g.129160443G>A							p.Q1112Q	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	33	3445	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1112			DHR-2.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.3336G>A																																																																																					0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		26	143	0	0	0	1	0	26	143					A	129160443	G	A	129160443	2	1	79	1	0	0	0	0	0	0	0	1	4700	1020	36	2		2	DOCK1	10	129160443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186868	129160443	6374304	11518	21835											
DOCK1	1793	broad.mit.edu	37	chr10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgtcaaagtgatcaggCccaagcctgactattttgct	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1334	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATCAGGCCCAAGCCTGA	0.438																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4000-4002)Ccc>Tcc		dedicator of cytokinesis 1							65	66	66					10																	129202634		1870	4105	5975	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129202634C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4000C>T	10.37:g.129202634C>T	ENSP00000280333:p.Pro1334Ser						p.P1334S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	40	4109	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1334			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4000C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.673705	0.88445	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.76575	0.826;0.988;0.952	T	0.01545	-1.1328	10	0.26408	T	0.33	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1334;1400;1334	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1334	ENSP00000280333:P1334S	ENSP00000280333:P1334S	P	+	1	0	DOCK1	129092624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCC		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		24	122	0	0	0	1	0	24	122					T	129202634	C	T	129202634	3	4	79	1	0	0	0	0	1	0	0	0	4700	739	26	2	4158	2	DOCK1	10	129202634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42191	129202634	6332113	11519	21836											
DOCK1	1793	broad.mit.edu	37	chr10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagtcacggaggcacTgaggccgttccacgagagga	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1590	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGAGGCACTGAGGCCGTTC	0.488																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4768-4770)cTg>cCg		dedicator of cytokinesis 1							196	196	196					10																	129224193		1958	4152	6110	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224193T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4769T>C	10.37:g.129224193T>C	ENSP00000280333:p.Leu1590Pro						p.L1590P	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4878	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1590			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4769T>C		.	.	.	.	.	.	.	.	.	.	t	17.76	3.469373	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	14.8644	0.70404	0.0:0.0:0.0:1.0	.	1590;1656;1590	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	P	1590	ENSP00000280333:L1590P	ENSP00000280333:L1590P	L	+	2	0	DOCK1	129114183	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	7.817000	0.86213	2.094000	0.63399	0.370000	0.22315	CTG		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		187	818	0	0	0	1	0	187	818					C	129224193	T	C	129224193	3	2	79	1	0	0	0	0	1	0	0	0	4700	1580	55	4	4955	4	DOCK1	10	129224193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21559	129224193	6310554	11520	21837											
CLRN3	119467	broad.mit.edu	37	chr10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaattacaatgaaggAcccaaggctggtgaaaaagc	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	20						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383																																						ENST00000368671.3																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(58-60)Tcc>Acc		clarin 3							113	101	105					10																	129690991		2203	4300	6503	SO:0001583	missense	119467					integral to membrane		g.chr10:129690991A>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.58T>A	10.37:g.129690991A>T	ENSP00000357660:p.Ser20Thr						p.S20T	NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN			1	220	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	20					Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	c.58T>A	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780443	0.49891	.	.	ENSG00000180745	ENST00000368671	T	0.70749	-0.51	5.52	-5.86	0.02304	.	0.222808	0.38837	N	0.001554	T	0.65439	0.2691	M	0.62723	1.935	0.09310	N	0.999998	P	0.47484	0.896	P	0.45660	0.489	T	0.67189	-0.5733	10	0.44086	T	0.13	-14.6668	14.2358	0.65925	0.2353:0.699:0.0658:0.0	.	20	Q8NCR9	CLRN3_HUMAN	T	20	ENSP00000357660:S20T	ENSP00000357660:S20T	S	-	1	0	CLRN3	129580981	0.076000	0.21285	0.002000	0.10522	0.126000	0.20510	0.537000	0.23144	-0.709000	0.05008	0.533000	0.62120	TCC		0.383	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		86	384	0	0	0	1	0	86	384					T	129690991	A	T	129690991	3	4	79	1	0	0	0	0	1	0	0	0	3568	275	10	5	634	5	CLRN3	10	129690991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	466798	129690991	5843756	11521	21838											
PTPRE	5791	broad.mit.edu	37	chr10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctcgaatccgtaatcAgcgccctcagatggttcaaa	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	373	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ATCCGTAATCAGCGCCCTCAG	0.542											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1117-1119)cAg>cGg		protein tyrosine phosphatase, receptor type, E							266	210	229					10																	129868066		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129868066A>G	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1118A>G	10.37:g.129868066A>G	ENSP00000254667:p.Gln373Arg		OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			13	1397	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	373			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1118A>G	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819271	0.90873	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D	0.76494	0.999;0.985;0.949;0.985	D;D;P;D	0.72338	0.977;0.93;0.814;0.93	D	0.93555	0.6890	10	0.45353	T	0.12	.	14.5529	0.68081	1.0:0.0:0.0:0.0	.	351;373;315;373	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	R	373;351;373;315	ENSP00000254667:Q373R;ENSP00000402337:Q373R;ENSP00000303350:Q315R	ENSP00000254667:Q373R	Q	+	2	0	PTPRE	129758056	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.106000	0.94253	2.099000	0.63709	0.533000	0.62120	CAG		0.542	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			85	458	0	0	0	1	0	85	458					G	129868066	A	G	129868066	3	3	79	1	0	0	0	0	1	0	0	0	12850	188	7	4	1199	4	PTPRE	10	129868066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177075	129868066	5666681	11522	21839											
MKI67	4288	broad.mit.edu	37	chr10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcctctttgtgcttgCtgtggtgtctaccacttcta	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2718	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTGCTTGCTGTGGTGTCT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8152-8154)Gca>Aca		marker of proliferation Ki-67							122	115	117					10																	129901952		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901952C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8152G>A	10.37:g.129901952C>T	ENSP00000357643:p.Ala2718Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	p.A2718T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8527	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2718			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8152G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194393	0.01594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.48	-2.61	0.06171	.	.	.	.	.	T	0.00666	0.0022	N	0.00317	-1.655	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.48468	-0.9033	9	0.10377	T	0.69	.	8.1379	0.31064	0.0:0.4302:0.0:0.5698	.	2717;2358;2718	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2718;2358;2717	ENSP00000357643:A2718T;ENSP00000357642:A2358T	ENSP00000357642:A2358T	A	-	1	0	MKI67	129791942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.647000	0.00860	-0.473000	0.06871	-0.794000	0.03295	GCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		104	508	0	0	0	1	0	104	508					T	129901952	C	T	129901952	3	4	79	1	0	0	0	0	1	0	0	0	9639	797	28	2	1630	2	MKI67	10	129901952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33886	129901952	5632795	11523	21840											
MKI67	4288	broad.mit.edu	37	chr10	129903573	129903573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcttggctgcctcttGctaccagttacacttgctgc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2177	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGCCTCTTGCTACCAGTTA	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6529-6531)agC>agT		marker of proliferation Ki-67							152	144	147					10																	129903573		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903573G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6531C>T	10.37:g.129903573G>A						MKI67_ENST00000368653.3_Silent_p.S1817S	p.S2177S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6906	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2177			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.6531C>T	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		184	693	0	0	0	1	0	184	693					A	129903573	G	A	129903573	2	1	79	1	0	0	0	0	0	0	0	1	9639	1310	46	2		2	MKI67	10	129903573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1621	129903573	5631174	11524	21841											
MKI67	4288	broad.mit.edu	37	chr10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccactggagtccccacaAatgtgttgatgtctttctct	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1920	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTCCCCACAAATGTGTTGAT	0.468																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5758-5760)tTt>tCt		marker of proliferation Ki-67							217	214	215					10																	129904345		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904345A>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5759T>C	10.37:g.129904345A>G	ENSP00000357643:p.Phe1920Ser					MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	p.F1920S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6134	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1920			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5759T>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891066	0.33348	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.66	-3.11	0.05299	.	0.693193	0.11826	N	0.525701	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;P;D	0.89917	0.22;0.811;1.0	B;P;D	0.77557	0.042;0.455;0.99	T	0.08932	-1.0698	10	0.06625	T	0.88	.	11.106	0.48203	0.4366:0.0:0.5634:0.0	.	1919;1560;1920	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1920;1560;1919	ENSP00000357643:F1920S;ENSP00000357642:F1560S	ENSP00000357642:F1560S	F	-	2	0	MKI67	129794335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.812000	0.04363	-0.250000	0.11733	TTT		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		223	1155	0	0	0	1	0	223	1155					G	129904345	A	G	129904345	3	3	79	1	0	0	0	0	1	0	0	0	9639	14	1	4	4023	4	MKI67	10	129904345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	772	129904345	5630402	11525	21842											
MKI67	4288	broad.mit.edu	37	chr10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgattcctcagtgtgacctCgtgtctggaagagctcttta	10	9	3	3	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTGTGACCTCGTGTCTGGAA	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4792-4794)cGa>cAa		marker of proliferation Ki-67							190	184	186					10																	129905311		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905311C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4793G>A	10.37:g.129905311C>T	ENSP00000357643:p.Arg1598Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	p.R1598Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5168	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1598			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4793G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968281	0.34754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.07	2.16	0.27623	.	0.251885	0.26349	N	0.024891	T	0.01454	0.0047	N	0.08118	0	0.21445	N	0.999688	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.48502	-0.9030	10	0.30854	T	0.27	.	11.0914	0.48119	0.0:0.1897:0.8103:0.0	.	1597;1238;1598	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1598;1238;1597	ENSP00000357643:R1598Q;ENSP00000357642:R1238Q	ENSP00000357642:R1238Q	R	-	2	0	MKI67	129795301	0.211000	0.23529	0.105000	0.21289	0.025000	0.11179	1.344000	0.33941	0.893000	0.36288	-0.226000	0.12346	CGA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		217	881	0	0	0	1	0	217	881					T	129905311	C	T	129905311	3	4	79	1	0	0	0	0	1	0	0	0	9639	884	31	1	4989	1	MKI67	10	129905311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	966	129905311	5629436	11526	21843											
MKI67	4288	broad.mit.edu	37	chr10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcgtttcctgagtgCgaagaattcttcttctacgt	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1526	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAGTGCGAAGAATTCT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4576-4578)Gca>Aca		marker of proliferation Ki-67							337	301	313					10																	129905528		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905528C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4576G>A	10.37:g.129905528C>T	ENSP00000357643:p.Ala1526Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	p.A1526T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4951	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1526			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4576G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303393	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02837	4.14;4.14	3.61	1.68	0.24146	.	1.738000	0.03536	N	0.223115	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	P;P;P	0.44478	0.614;0.803;0.836	B;B;B	0.32805	0.099;0.127;0.153	T	0.47699	-0.9097	10	0.12103	T	0.63	.	6.1017	0.20051	0.0:0.755:0.0:0.245	.	1525;1166;1526	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1526;1166;1525	ENSP00000357643:A1526T;ENSP00000357642:A1166T	ENSP00000357642:A1166T	A	-	1	0	MKI67	129795518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.129000	0.10515	0.322000	0.23283	0.462000	0.41574	GCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		279	1329	0	0	0	1	0	279	1329					T	129905528	C	T	129905528	3	4	79	1	0	0	0	0	1	0	0	0	9639	768	27	1	5206	1	MKI67	10	129905528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217	129905528	5629219	11527	21844											
MKI67	4288	broad.mit.edu	37	chr10	129906354	129906354	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgactgtggagagtcgcaGggtattttagtggttttacc	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1250	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGTCGCAGGGTATTTTAG	0.512																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3748-3750)ccC>ccA		marker of proliferation Ki-67							123	124	124					10																	129906354		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906354G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3750C>A	10.37:g.129906354G>T						MKI67_ENST00000368653.3_Silent_p.P890P	p.P1250P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4125	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1250			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3750C>A	CCDS7659.1																																																																																				0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		129	625	1	0	7.97229e-56	1	9.97061e-56	129	625					T	129906354	G	T	129906354	2	4	79	1	0	0	0	0	0	0	0	1	9639	987	35	3		3	MKI67	10	129906354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826	129906354	5628393	11528	21845											
MKI67	4288	broad.mit.edu	37	chr10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccagtttctgcactGgagttcccataaatgcttta	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1194	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGCACTGGAGTTCCCAT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3580-3582)cCa>cTa		marker of proliferation Ki-67							205	195	198					10																	129906523		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906523G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3581C>T	10.37:g.129906523G>A	ENSP00000357643:p.Pro1194Leu					MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	p.P1194L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3956	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1194			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3581C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523639	0.64747	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.99	3.99	0.46301	.	1.135460	0.06812	N	0.790500	T	0.13628	0.0330	M	0.74647	2.275	0.46725	D	0.99917	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.947;0.963;0.99	T	0.00783	-1.1568	10	0.40728	T	0.16	.	14.6341	0.68676	0.0:0.0:1.0:0.0	.	1193;834;1194	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1194;834;1193	ENSP00000357643:P1194L;ENSP00000357642:P834L	ENSP00000357642:P834L	P	-	2	0	MKI67	129796513	0.540000	0.26410	0.041000	0.18516	0.057000	0.15508	2.410000	0.44592	1.956000	0.56807	0.462000	0.41574	CCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		30	1139	0	0	0	1	0	30	1139					A	129906523	G	A	129906523	3	1	79	1	0	0	0	0	1	0	0	0	9639	1348	47	2	6201	2	MKI67	10	129906523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	129906523	5628224	11529	21846											
MKI67	4288	broad.mit.edu	37	chr10	129907026	129907026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactttccccagggatgcCttcaactgttgttttgtgtg	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.K666K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1026	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGCCTTCAACTGTT	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3076-3078)aaG>aaA		marker of proliferation Ki-67							471	460	464					10																	129907026		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907026C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3078G>A	10.37:g.129907026C>T						MKI67_ENST00000368653.3_Silent_p.K666K	p.K1026K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3453	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1026			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3078G>A	CCDS7659.1																																																																																				0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		527	1993	0	0	0	1	0	527	1993					T	129907026	C	T	129907026	2	4	79	1	0	0	0	0	0	0	0	1	9639	680	24	2		2	MKI67	10	129907026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	129907026	5627721	11530	21847											
MKI67	4288	broad.mit.edu	37	chr10	129913211	129913211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatggaatcaccaaagttGttgatatcaactgaactaag	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129913211G>A	ENST00000368654.3	-	7	1836	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	487					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACCAAAGTTGTTGATATCAA	0.378																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1459-1461)aaC>aaT		marker of proliferation Ki-67							103	104	103					10																	129913211		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913211G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1461C>T	10.37:g.129913211G>A						MKI67_ENST00000368653.3_Intron	p.N487N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1836	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	487					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.1461C>T	CCDS7659.1																																																																																				0.378	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		19	581	0	0	0	1	0	19	581					A	129913211	G	A	129913211	2	1	79	1	0	0	0	0	0	0	0	1	9639	1368	48	2		2	MKI67	10	129913211	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6185	129913211	5621536	11531	21848											
MKI67	4288	broad.mit.edu	37	chr10	129914033	129914033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcaattctccataacgGctcactaatttaacgctgga	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	213					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCATAACGGCTCACTAATT	0.388																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(637-639)agC>agT		marker of proliferation Ki-67							90	90	90					10																	129914033		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129914033G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.639C>T	10.37:g.129914033G>A						MKI67_ENST00000368653.3_Intron	p.S213S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1014	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	213					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.639C>T	CCDS7659.1																																																																																				0.388	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		64	304	0	0	0	1	0	64	304					A	129914033	G	A	129914033	2	1	79	1	0	0	0	0	0	0	0	1	9639	1194	42	2		2	MKI67	10	129914033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	822	129914033	5620714	11532	21849											
EBF3	253738	broad.mit.edu	37	chr10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgtgattgcggggaaCgctgtacagcgcctcggcga	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000355311.5	-	13	1315	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.V406I			Q9H4W6	COE3_HUMAN	early B-cell factor 3	415					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGCGGGGAACGCTGTACAGC	0.642																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1216-1218)Gtt>Att		early B-cell factor 3							206	171	183					10																	131640509		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640509C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1243G>A	10.37:g.131640509C>T	ENSP00000347463:p.Val415Ile					EBF3_ENST00000355311.5_Missense_Mutation_p.V415I	p.V406I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1288	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	415					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1216G>A		.	.	.	.	.	.	.	.	.	.	C	18.02	3.531062	0.64972	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.111763	0.64402	D	0.000012	T	0.50137	0.1598	M	0.69823	2.125	0.53688	D	0.999971	B	0.30937	0.301	B	0.27170	0.077	T	0.46331	-0.9199	10	0.30078	T	0.28	-17.9183	19.8561	0.96761	0.0:1.0:0.0:0.0	.	406	Q9H4W6-2	.	I	415;406	ENSP00000347463:V415I;ENSP00000357637:V406I	ENSP00000347463:V415I	V	-	1	0	EBF3	131530499	1.000000	0.71417	0.971000	0.41717	0.838000	0.47535	6.018000	0.70811	2.776000	0.95493	0.650000	0.86243	GTT		0.642	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		23	860	0	0	0	1	0	23	860					T	131640509	C	T	131640509	3	4	79	1	0	0	0	0	1	0	0	0	4898	536	19	1	455	1	EBF3	10	131640509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726476	131640509	3894238	11533	21850											
EBF3	253738	broad.mit.edu	37	chr10	131666130	131666130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgacggtggcacccccCgtggtccagccttcactggg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000355311.5	-	9	900	c.828G>A	c.(826-828)acG>acA	p.T276T	EBF3_ENST00000368648.3_Silent_p.T267T			Q9H4W6	COE3_HUMAN	early B-cell factor 3	276	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(799-801)acG>acA		early B-cell factor 3							112	91	98					10																	131666130		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666130C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.828G>A	10.37:g.131666130C>T						EBF3_ENST00000355311.5_Silent_p.T276T	p.T267T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	873	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	276			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.801G>A																																																																																					0.582	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		58	265	0	0	0	1	0	58	265					T	131666130	C	T	131666130	2	4	79	1	0	0	0	0	0	0	0	1	4898	639	23	1		1	EBF3	10	131666130	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25621	131666130	3868617	11534	21851											
EBF3	253738	broad.mit.edu	37	chr10	131761748	131761748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccggaggttggaaggCggctgcttctcgaagtgcgc	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131761748C>T	ENST00000355311.5	-	2	246	c.174G>A	c.(172-174)ccG>ccA	p.P58P	EBF3_ENST00000368648.3_Silent_p.P58P			Q9H4W6	COE3_HUMAN	early B-cell factor 3	58					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTTGGAAGGCGGCTGCTTCT	0.672																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(172-174)ccG>ccA		early B-cell factor 3							40	45	43					10																	131761748		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761748C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.174G>A	10.37:g.131761748C>T						EBF3_ENST00000355311.5_Silent_p.P58P	p.P58P	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	246	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	58					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.174G>A																																																																																					0.672	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		9	313	0	0	0	1	0	9	313					T	131761748	C	T	131761748	2	4	79	1	0	0	0	0	0	0	0	1	4898	755	27	1		1	EBF3	10	131761748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95618	131761748	3772999	11535	21852											
GLRX3	10539	broad.mit.edu	37	chr10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggggagctggtgggaGgattggatattgtgaaggta	19	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	314	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GCTGGTGGGAGGATTGGATAT	0.393																																						ENST00000368644.1																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(940-942)Gga>Aga		glutaredoxin 3							127	127	127					10																	131973336		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131973336G>A	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.940G>A	10.37:g.131973336G>A	ENSP00000357633:p.Gly314Arg					GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	10	962	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	314			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.940G>A	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253560	0.80135	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29142	1.58;1.58	4.17	4.17	0.49024	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.85132	0.0975	10	0.87932	D	0	-15.7007	15.2207	0.73308	0.0:0.0:1.0:0.0	.	314	O76003	GLRX3_HUMAN	R	314	ENSP00000330836:G314R;ENSP00000357633:G314R	ENSP00000330836:G314R	G	+	1	0	GLRX3	131863326	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.721000	0.91446	2.171000	0.68590	0.561000	0.74099	GGA		0.393	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		31	190	0	0	0	1	0	31	190					A	131973336	G	A	131973336	3	1	79	1	0	0	0	0	1	0	0	0	6490	1001	35	2	978	2	GLRX3	10	131973336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211588	131973336	3561411	11536	21853											
TCERG1L	256536	broad.mit.edu	37	chr10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacaaactcatctcatTttccgcagccttagtctgtt	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1750-1752)aaA>aaC		transcription elongation regulator 1-like							113	110	111					10																	132891434		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891434T>G	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1752A>C	10.37:g.132891434T>G	ENSP00000357631:p.Lys584Asn						p.K584N	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1837	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	584					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1752A>C	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951676	0.73787	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	4.91	-0.0918	0.13659	.	0.000000	0.53938	D	0.000044	T	0.40398	0.1115	L	0.54323	1.7	0.53688	D	0.999972	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.87932	D	0	-1.323	8.3344	0.32206	0.0:0.332:0.0:0.668	.	584	Q5VWI1	TCRGL_HUMAN	N	584	ENSP00000357631:K584N	ENSP00000357631:K584N	K	-	3	2	TCERG1L	132781424	0.991000	0.36638	0.985000	0.45067	0.984000	0.73092	0.118000	0.15605	-0.280000	0.09154	0.460000	0.39030	AAA		0.512	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		46	231	0	0	0	1	0	46	231					G	132891434	T	G	132891434	3	3	79	1	0	0	0	0	1	0	0	0	15738	1838	64	4	12	4	TCERG1L	10	132891434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	918098	132891434	2643313	11537	21854											
TCERG1L	256536	broad.mit.edu	37	chr10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaaggtcaggaagtggCgcggctgcacgctggagggg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(799-801)cGc>cAc		transcription elongation regulator 1-like							23	27	25					10																	133058578		2202	4300	6502	SO:0001583	missense	256536							g.chr10:133058578C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.800G>A	10.37:g.133058578C>T	ENSP00000357631:p.Arg267His						p.R267H	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	885	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	267					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.800G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090020	0.55968	.	.	ENSG00000176769	ENST00000368642	T	0.22743	1.94	5.2	4.29	0.51040	.	0.157333	0.45126	D	0.000395	T	0.07548	0.0190	N	0.08118	0	0.23677	N	0.997137	P	0.43314	0.803	B	0.29353	0.101	T	0.25257	-1.0137	10	0.15066	T	0.55	-1.6377	10.7194	0.46032	0.0:0.9105:0.0:0.0895	.	267	Q5VWI1	TCRGL_HUMAN	H	267	ENSP00000357631:R267H	ENSP00000357631:R267H	R	-	2	0	TCERG1L	132948568	0.946000	0.32159	0.850000	0.33497	0.813000	0.45954	0.607000	0.24209	1.168000	0.42723	0.655000	0.94253	CGC		0.701	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		23	107	0	0	0	1	0	23	107					T	133058578	C	T	133058578	3	4	79	1	0	0	0	0	1	0	0	0	15738	768	27	1	996	1	TCERG1L	10	133058578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167144	133058578	2476169	11538	21855											
BNIP3	664	broad.mit.edu	37	chr10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgctcgtgttcctcatgCtgagggtggccgtgcgcttc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000368636.4	-	5	555	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	144					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537																																						ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(430-432)aGc>aAc		BCL2/adenovirus E1B 19kDa interacting protein 3							77	71	73					10																	133784250		2203	4298	6501	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133784250C>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.431G>A	10.37:g.133784250C>T	ENSP00000357625:p.Ser144Asn					BNIP3_ENST00000368636.4_Missense_Mutation_p.S144N	p.S144N			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	547	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	144					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.431G>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751290	0.89753	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88300	0.2949	9	0.87932	D	0	-10.6238	17.9813	0.89141	0.0:1.0:0.0:0.0	.	144	Q12983	BNIP3_HUMAN	N	144	.	ENSP00000357625:S144N	S	-	2	0	BNIP3	133634240	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.744000	0.74854	2.423000	0.82170	0.655000	0.94253	AGC		0.537	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			60	208	0	0	0	1	0	60	208					T	133784250	C	T	133784250	3	4	79	1	0	0	0	0	1	0	0	0	1480	797	28	2	161	2	BNIP3	10	133784250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725672	133784250	1750497	11539	21856											
JAKMIP3	282973	broad.mit.edu	37	chr10	133955529	133955529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaggttggagggacgCtggacgcagagcgagaagtt	19	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	527						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGGGACGCTGGACGCAGA	0.657																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1579-1581)Ctg>Ttg		Janus kinase and microtubule interacting protein 3							112	73	86					10																	133955529		2202	4297	6499	SO:0001819	synonymous_variant	282973							g.chr10:133955529C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1579C>T	10.37:g.133955529C>T							p.L527L	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	10	1717	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.1579C>T	CCDS44494.1																																																																																				0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		8	44	0	0	0	1	0	8	44					T	133955529	C	T	133955529	2	4	79	1	0	0	0	0	0	0	0	1	7972	796	28	2		2	JAKMIP3	10	133955529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171279	133955529	1579218	11540	21857											
DPYSL4	10570	broad.mit.edu	37	chr10	134010555	134010555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcatcatccgggacCtgggggccttggcccaggtg	14	13	3	0	rs202122121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	ENST00000338492.4	+	6	735	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	191					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATCCGGGACCTGGGGGCCTT	0.682																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(571-573)Ctg>Atg		dihydropyrimidinase-like 4							31	30	30					10																	134010555		2192	4295	6487	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134010555C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.571C>A	10.37:g.134010555C>A	ENSP00000339850:p.Leu191Met					DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M	p.L191M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	6	735	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	191					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.571C>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932821	0.73442	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90676	-2.71;-2.56;-2.56	4.5	4.5	0.54988	Amidohydrolase 1 (1);	0.000000	0.64402	D	0.000001	D	0.95799	0.8633	M	0.87381	2.88	0.44123	D	0.996904	D	0.89917	1.0	D	0.97110	1.0	D	0.96535	0.9396	10	0.72032	D	0.01	-9.8789	17.0322	0.86464	0.0:1.0:0.0:0.0	.	191	O14531	DPYL4_HUMAN	M	191;114;114	ENSP00000339850:L191M;ENSP00000357618:L114M;ENSP00000357616:L114M	ENSP00000339850:L191M	L	+	1	2	DPYSL4	133860545	0.404000	0.25328	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	2.352000	0.79861	0.585000	0.79938	CTG		0.682	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			19	74	1	0	6.49762e-13	1	6.99513e-13	19	74					A	134010555	C	A	134010555	3	1	79	1	0	0	0	0	1	0	0	0	4765	680	24	3	593	3	DPYSL4	10	134010555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55026	134010555	1524192	11541	21858											
DPYSL4	10570	broad.mit.edu	37	chr10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacgccatcgctcaggCcaagcgcagaggtgagcacc	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	267					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATCGCTCAGGCCAAGCGCAGA	0.672																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(799-801)gCc>gTc		dihydropyrimidinase-like 4							57	47	51					10																	134012464		2201	4300	6501	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134012464C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.800C>T	10.37:g.134012464C>T	ENSP00000339850:p.Ala267Val					DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V	p.A267V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	8	964	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	267					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.800C>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099403	0.94197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.92545	-3.06;-3.06;-3.06	3.94	3.94	0.45596	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98832	1.0751	10	0.87932	D	0	-8.8405	16.6038	0.84823	0.0:1.0:0.0:0.0	.	267	O14531	DPYL4_HUMAN	V	267;167;167	ENSP00000339850:A267V;ENSP00000357618:A167V;ENSP00000357616:A167V	ENSP00000339850:A267V	A	+	2	0	DPYSL4	133862454	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.237000	0.78164	2.209000	0.71365	0.555000	0.69702	GCC		0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			58	205	0	0	0	1	0	58	205					T	134012464	C	T	134012464	3	4	79	1	0	0	0	0	1	0	0	0	4765	739	26	2	830	2	DPYSL4	10	134012464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	134012464	1522283	11542	21859											
LRRC27	80313	broad.mit.edu	37	chr10	134158066	134158066	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaattccctcctcagctCgttgtgcagaagggattggt	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000368614.3	+	5	570	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368615.3_Silent_p.L155L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512																																						ENST00000356571.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(406-408)Cgt>Tgt		leucine rich repeat containing 27							137	132	134					10																	134158066		2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134158066C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.465C>T	10.37:g.134158066C>T						LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000368614.3_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L	p.R136C			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	4	518	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	16					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.406C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.447569|1.447569	0.26074|0.26074	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000450442	T|.	0.62941|.	-0.01|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23940|0.23940	-1.0174|-1.0174	6|4	0.49607|.	T|.	0.09|.	-1.6037|-1.6037	9.3344|9.3344	0.38040|0.38040	0.0:0.1366:0.4286:0.4348|0.0:0.1366:0.4286:0.4348	.|.	.|.	.|.	.|.	C|L	136|107	ENSP00000348978:R136C|.	ENSP00000348978:R136C|.	R|S	+|+	1|2	0|0	LRRC27|LRRC27	134008056|134008056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.558000|-1.558000	0.02164|0.02164	-2.268000|-2.268000	0.00685|0.00685	-0.136000|-0.136000	0.14681|0.14681	CGT|TCG		0.512	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		105	411	0	0	0	1	0	105	411					T	134158066	C	T	134158066	2	4	79	1	0	0	0	0	0	0	0	1	9019	871	31	1		1	LRRC27	10	134158066	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145602	134158066	1376681	11543	21860											
LRRC27	80313	broad.mit.edu	37	chr10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacctccaaatctcaaggCggccttgaacattgagaaag	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000368614.3	+	6	983	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(877-879)gCg>gTg		leucine rich repeat containing 27							88	83	85					10																	134161812		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134161812C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.878C>T	10.37:g.134161812C>T	ENSP00000357603:p.Ala293Val					LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V	p.A293V			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	1073	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	293					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.878C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.48836|.	2.51;2.44;2.44;2.4;2.4;4.16;4.16;0.8|.	4.01|4.01	2.09|2.09	0.27110|0.27110	.|.	0.228756|.	0.27787|.	N|.	0.017860|.	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.65815|.	0.032;0.995;0.141;0.033;0.131|.	B;P;B;B;B|.	0.59357|.	0.018;0.856;0.042;0.012;0.018|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.45353|.	T|.	0.12|.	-12.7724|-12.7724	4.1531|4.1531	0.10247|0.10247	0.233:0.6465:0.0:0.1206|0.233:0.6465:0.0:0.1206	.|.	293;166;231;293;293|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	V|W	293;293;293;293;293;231;231;166|245	ENSP00000357604:A293V;ENSP00000376413:A293V;ENSP00000342641:A293V;ENSP00000357603:A293V;ENSP00000357602:A293V;ENSP00000357601:A231V;ENSP00000357599:A231V;ENSP00000407949:A166V|.	ENSP00000342641:A293V|.	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134011802|134011802	0.003000|0.003000	0.15002|0.15002	0.128000|0.128000	0.21923|0.21923	0.082000|0.082000	0.17680|0.17680	0.114000|0.114000	0.15520|0.15520	0.964000|0.964000	0.38108|0.38108	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.463	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		119	511	0	0	0	1	0	119	511					T	134161812	C	T	134161812	3	4	79	1	0	0	0	0	1	0	0	0	9019	768	27	1	896	1	LRRC27	10	134161812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3746	134161812	1372935	11544	21861											
LRRC27	80313	broad.mit.edu	37	chr10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaccttgaacaaagatcgtCgacgggcggccctcactgga	11	12	1	2	rs199929957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368614.3	+	11	1585	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1294-1296)Cga>Tga		leucine rich repeat containing 27							69	70	70					10																	134188633		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134188633C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1480C>T	10.37:g.134188633C>T	ENSP00000357603:p.Arg494*					LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.R494*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*	p.R432*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	10	1294	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	494					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.1294C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324770	0.60634	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.	.	.	3.44	-2.22	0.06952	.	3.434310	0.00988	N	0.003486	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.6575	4.1289	0.10139	0.0:0.3457:0.3364:0.3179	.	.	.	.	X	494;494;432;432	.	ENSP00000357599:R432X	R	+	1	2	LRRC27	134038623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	-0.487000	0.06735	0.591000	0.81541	CGA		0.468	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		66	273	0	0	0	1	0	66	273					T	134188633	C	T	134188633	4	4	79	1	0	0	0	0	0	1	0	0	9019	876	31	1	1700	1	LRRC27	10	134188633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26821	134188633	1346114	11545	21862											
LRRC27	80313	broad.mit.edu	37	chr10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagaatcaggaaatgttCgcagataccagtgacaccag	11	8	1	3	rs200285895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368614.3	+	11	1684	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1393-1395)Cgc>Tgc		leucine rich repeat containing 27							58	58	58					10																	134188732		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134188732C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1579C>T	10.37:g.134188732C>T	ENSP00000357603:p.Arg527Cys					LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.R527C|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C	p.R465C			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	10	1393	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	527					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1393C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243219	0.22796	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.17528	2.27;2.27;4.03;4.03	3.03	-3.05	0.05396	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33007	-0.9885	9	0.87932	D	0	.	4.3647	0.11218	0.0:0.3271:0.4023:0.2706	.	465;527	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	C	527;527;465;465	ENSP00000357603:R527C;ENSP00000357602:R527C;ENSP00000357601:R465C;ENSP00000357599:R465C	ENSP00000357599:R465C	R	+	1	0	LRRC27	134038722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.603000	0.02077	-0.640000	0.05495	-0.469000	0.05056	CGC		0.552	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		39	212	0	0	0	1	0	39	212					T	134188732	C	T	134188732	3	4	79	1	0	0	0	0	1	0	0	0	9019	884	31	1	1799	1	LRRC27	10	134188732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99	134188732	1346015	11546	21863											
PWWP2B	170394	broad.mit.edu	37	chr10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgtgccgccgctgcccGccggaagcctgcccccgtac	11	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(331-333)Gcc>Acc		PWWP domain containing 2B							7	7	7					10																	134218335		1698	3287	4985	SO:0001583	missense	170394							g.chr10:134218335G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.331G>A	10.37:g.134218335G>A	ENSP00000306324:p.Ala111Thr					PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	390	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	111			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.331G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143618	0.01728	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55760	0.5;1.5	3.71	2.72	0.32119	.	0.363325	0.20623	U	0.088734	T	0.35711	0.0941	L	0.38175	1.15	0.18873	N	0.999989	B	0.17852	0.024	B	0.06405	0.002	T	0.13764	-1.0497	10	0.23302	T	0.38	-1.9873	5.7131	0.17945	0.1733:0.0:0.8267:0.0	.	111	Q6NUJ5	PWP2B_HUMAN	T	111	ENSP00000306324:A111T;ENSP00000357598:A111T	ENSP00000306324:A111T	A	+	1	0	PWWP2B	134068325	0.001000	0.12720	0.069000	0.20011	0.392000	0.30506	-0.086000	0.11233	0.825000	0.34637	0.557000	0.71058	GCC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		15	56	0	0	0	1	0	15	56					A	134218335	G	A	134218335	3	1	79	1	0	0	0	0	1	0	0	0	12896	1087	38	1	337	1	PWWP2B	10	134218335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29603	134218335	1316412	11547	21864											
PWWP2B	170394	broad.mit.edu	37	chr10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgggctggcggacttgTcttctggaagttcgggtgag	18	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1141-1143)Tct>Cct		PWWP domain containing 2B							39	40	40					10																	134219145		2201	4285	6486	SO:0001583	missense	170394							g.chr10:134219145T>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1141T>C	10.37:g.134219145T>C	ENSP00000306324:p.Ser381Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1200	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	381					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1141T>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889976	0.33348	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.33	4.51	3.27	0.37495	.	0.085660	0.50627	U	0.000103	T	0.54598	0.1868	L	0.32530	0.975	0.21020	N	0.999802	D	0.71674	0.998	D	0.65773	0.938	T	0.38757	-0.9646	10	0.29301	T	0.29	-10.9623	9.4798	0.38893	0.158:0.0:0.0:0.842	.	381	Q6NUJ5	PWP2B_HUMAN	P	381	ENSP00000306324:S381P;ENSP00000357598:S381P	ENSP00000306324:S381P	S	+	1	0	PWWP2B	134069135	0.972000	0.33761	0.209000	0.23619	0.039000	0.13416	1.739000	0.38217	1.815000	0.52974	0.460000	0.39030	TCT		0.677	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		115	377	0	0	0	1	0	115	377					C	134219145	T	C	134219145	3	2	79	1	0	0	0	0	1	0	0	0	12896	1667	58	4	1147	4	PWWP2B	10	134219145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810	134219145	1315602	11548	21865											
PWWP2B	170394	broad.mit.edu	37	chr10	134219225	134219225	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgagggcttggcttttctCgtcagctgccctgaggggag	16	11	2	1	rs201982405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17272	0.0		0.001	False		,,,				2504	0.0					ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1219-1221)ctC>ctT		PWWP domain containing 2B							43	39	41					10																	134219225		2200	4296	6496	SO:0001819	synonymous_variant	170394							g.chr10:134219225C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1221C>T	10.37:g.134219225C>T						PWWP2B_ENST00000368609.4_Silent_p.L407L	p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1280	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	407					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.1221C>T	CCDS7667.2																																																																																				0.657	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		72	287	0	0	0	1	0	72	287					T	134219225	C	T	134219225	2	4	79	1	0	0	0	0	0	0	0	1	12896	871	31	1		1	PWWP2B	10	134219225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	134219225	1315522	11549	21866											
INPP5A	3632	broad.mit.edu	37	chr10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagacggtccgggccgccGacaccaatgaagtggtgaag	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	259					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(775-777)Gac>Aac		inositol polyphosphate-5-phosphatase, 40kDa							72	64	67					10																	134563063		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563063G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.775G>A	10.37:g.134563063G>A	ENSP00000357583:p.Asp259Asn					INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	1052	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	259					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.775G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148323	0.21288	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50277	0.75;0.75	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.252635	0.45361	D	0.000366	T	0.50360	0.1611	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	P;P	0.57846	0.733;0.828	T	0.33828	-0.9853	10	0.15066	T	0.55	-37.3962	18.9259	0.92544	0.0:0.0:1.0:0.0	.	259;259	Q14642;Q5T1B5	I5P1_HUMAN;.	N	259;259;176	ENSP00000357583:D259N;ENSP00000357582:D259N	ENSP00000357582:D259N	D	+	1	0	INPP5A	134413053	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	6.871000	0.75531	2.547000	0.85894	0.655000	0.94253	GAC		0.632	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		59	318	0	0	0	1	0	59	318					A	134563063	G	A	134563063	3	1	79	1	0	0	0	0	1	0	0	0	7784	1058	37	1	813	1	INPP5A	10	134563063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343838	134563063	971684	11550	21867											
NKX6-2	84504	broad.mit.edu	37	chr10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggctgaccagcgccaagTtcgagggtttgtgcttcttg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	262					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(784-786)aAc>aCc		NK6 homeobox 2							64	52	56					10																	134598469		2195	4297	6492	SO:0001583	missense	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598469T>G	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"Homeoboxes / ANTP class : NKL subclass"	19321	protein-coding gene	gene with protein product		605955	"NK6 transcription factor related, locus 2 (Drosophila)"			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.785A>C	10.37:g.134598469T>G	ENSP00000357581:p.Asn262Thr						p.N262T	NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	888	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	262					Q5JSF3	Missense_Mutation	SNP	ENST00000368592.5	37	c.785A>C	CCDS7670.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895624	0.33442	.	.	ENSG00000148826	ENST00000368592	T	0.54071	0.59	3.07	1.92	0.25849	.	0.054125	0.64402	D	0.000001	T	0.42539	0.1207	L	0.60455	1.87	0.53688	D	0.999972	B	0.15473	0.013	B	0.14023	0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-28.5154	5.673	0.17733	0.0:0.0976:0.1703:0.7321	.	262	Q9C056	NKX62_HUMAN	T	262	ENSP00000357581:N262T	ENSP00000357581:N262T	N	-	2	0	NKX6-2	134448459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.931000	0.28871	0.571000	0.29365	0.379000	0.24179	AAC		0.677	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			43	213	0	0	0	1	0	43	213					G	134598469	T	G	134598469	3	3	79	1	0	0	0	0	1	0	0	0	10500	1725	60	4	52	4	NKX6-2	10	134598469	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35406	134598469	936278	11551	21868											
C10orf93	54777	broad.mit.edu	37	chr10	134743011	134743011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaaaggtaaagagaaaCgggcaggtgtaaaattgcaa	12	4	0	2	rs371257846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134743011C>T	ENST00000368585.3	-	9	1502	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						taaagagaaacgggcaggtgt	0.498																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1162-1164)ccG>ccA		tetratricopeptide repeat domain 40							65	57	60					10																	134743011		2202	4300	6502	SO:0001819	synonymous_variant	54777							g.chr10:134743011C>T																												ENST00000368585.3:c.1164G>A	10.37:g.134743011C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.P388P			Q8IYW2	CJ092_HUMAN			9	1502	-			0						Silent	SNP	ENST00000368585.3	37	c.1164G>A																																																																																					0.498	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			16	124	0	0	0	1	0	16	124					T	134743011	C	T	134743011	2	4	79	1	0	0	0	0	0	0	0	1	1630	523	19	1		1	C10orf93	10	134743011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144542	134743011	791736	11552	21869											
C10orf93	54777	broad.mit.edu	37	chr10	134743101	134743101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaaccacggaccgaagCcctgggggccgtggcctggt	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134743101C>T	ENST00000368585.3	-	9	1412	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGACCGAAGCCCTGGGGGCC	0.537																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1072-1074)ggG>ggA		tetratricopeptide repeat domain 40							112	100	104					10																	134743101		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743101C>T																												ENST00000368585.3:c.1074G>A	10.37:g.134743101C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.G358G			Q8IYW2	CJ092_HUMAN			9	1412	-			0						Silent	SNP	ENST00000368585.3	37	c.1074G>A																																																																																					0.537	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			79	427	0	0	0	1	0	79	427					T	134743101	C	T	134743101	2	4	79	1	0	0	0	0	0	0	0	1	1630	726	26	2		2	C10orf93	10	134743101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	134743101	791646	11553	21870											
GPR123	84435	broad.mit.edu	37	chr10	134942098	134942098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcattccaggcacagCtgcgcgccgccgccttcacg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000392607.3	+	7	1202	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	GPR123_ENST00000607359.1_Silent_p.L975L|GPR123_ENST00000392606.2_Silent_p.L159L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	256					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2923-2925)Ctg>Ttg		G protein-coupled receptor 123							12	12	12					10																	134942098		2183	4284	6467	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942098C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.766C>T	10.37:g.134942098C>T						GPR123_ENST00000392607.3_Silent_p.L256L|GPR123_ENST00000392606.2_Silent_p.L159L	p.L975L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2923	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	256					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.2923C>T	CCDS41580.1																																																																																				0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			7	65	0	0	0	1	0	7	65					T	134942098	C	T	134942098	2	4	79	1	0	0	0	0	0	0	0	1	6666	796	28	2		2	GPR123	10	134942098	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198997	134942098	592649	11554	21871											
GPR123	84435	broad.mit.edu	37	chr10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccctgggactcttcgtgCtcatccaccactgcgccaag	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000392607.3	+	7	1343	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	303					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3064-3066)Ctc>Ttc		G protein-coupled receptor 123							44	35	38					10																	134942239		2197	4287	6484	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942239C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.907C>T	10.37:g.134942239C>T	ENSP00000376384:p.Leu303Phe					GPR123_ENST00000392607.3_Missense_Mutation_p.L303F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	p.L1022F			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3064	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	303					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3064C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401612	0.62288	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.38722	1.12	4.91	3.98	0.46160	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.45606	D	0.000345	T	0.48840	0.1522	M	0.69823	2.125	0.58432	D	0.999995	B;B	0.27791	0.09;0.189	B;P	0.45794	0.084;0.493	T	0.38067	-0.9678	10	0.12766	T	0.61	-43.9164	6.9616	0.24599	0.0:0.727:0.1787:0.0943	.	303;1022	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	1022;303;207	ENSP00000376384:L303F	ENSP00000357566:L1022F	L	+	1	0	GPR123	134792229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.313000	0.43735	1.162000	0.42619	0.561000	0.74099	CTC		0.682	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			45	181	0	0	0	1	0	45	181					T	134942239	C	T	134942239	3	4	79	1	0	0	0	0	1	0	0	0	6666	797	28	2	929	2	GPR123	10	134942239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	134942239	592508	11555	21872											
GPR123	84435	broad.mit.edu	37	chr10	134942485	134942485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggccaccccgtgctgcGccaagatgcactgcgagcca	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942485G>C	ENST00000392607.3	+	7	1589	c.1153G>C	c.(1153-1155)Gcc>Ccc	p.A385P	GPR123_ENST00000607359.1_Missense_Mutation_p.A1104P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	385					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCGTGCTGCGCCAAGATGCA	0.721																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3310-3312)Gcc>Ccc		G protein-coupled receptor 123							7	6	6					10																	134942485		2088	4118	6206	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942485G>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1153G>C	10.37:g.134942485G>C	ENSP00000376384:p.Ala385Pro					GPR123_ENST00000392607.3_Missense_Mutation_p.A385P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	p.A1104P			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3310	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	385					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3310G>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.664190	0.67700	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.04603	3.59	4.42	3.51	0.40186	.	0.205916	0.32503	N	0.006010	T	0.16300	0.0392	M	0.64997	1.995	0.53005	D	0.999969	B;D	0.76494	0.112;0.999	B;D	0.70935	0.064;0.971	T	0.00417	-1.1752	10	0.87932	D	0	-29.5881	11.7426	0.51801	0.0:0.0:0.822:0.178	.	385;1104	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	P	1104;385;289	ENSP00000376384:A385P	ENSP00000357566:A1104P	A	+	1	0	GPR123	134792475	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	6.988000	0.76212	1.202000	0.43218	0.561000	0.74099	GCC		0.721	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			3	27	0	0	0	1	0	3	27					C	134942485	G	C	134942485	3	2	79	1	0	0	0	0	1	0	0	0	6666	1087	38	5	1175	5	GPR123	10	134942485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	134942485	592262	11556	21873											
GPR123	84435	broad.mit.edu	37	chr10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagccagaacgggctgCccaagggtaaattgctagaa	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000392607.3	+	7	2027	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	531					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3748-3750)Ccc>Tcc		G protein-coupled receptor 123							19	19	19					10																	134942923		2198	4290	6488	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942923C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1591C>T	10.37:g.134942923C>T	ENSP00000376384:p.Pro531Ser					GPR123_ENST00000392607.3_Missense_Mutation_p.P531S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	p.P1250S			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3748	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	531					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3748C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239772	0.22711	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03717	3.83	4.48	3.57	0.40892	.	1.001760	0.08053	N	0.996883	T	0.03739	0.0106	N	0.24115	0.695	0.23076	N	0.998337	B;B	0.32324	0.015;0.364	B;B	0.24269	0.002;0.052	T	0.45891	-0.9230	10	0.62326	D	0.03	.	12.7013	0.57034	0.0:0.833:0.1669:0.0	.	531;1250	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	1250;531;435	ENSP00000376384:P531S	ENSP00000357566:P1250S	P	+	1	0	GPR123	134792913	1.000000	0.71417	0.108000	0.21378	0.151000	0.21798	1.687000	0.37680	0.995000	0.38917	0.561000	0.74099	CCC		0.647	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			13	100	0	0	0	1	0	13	100					T	134942923	C	T	134942923	3	4	79	1	0	0	0	0	1	0	0	0	6666	739	26	2	1613	2	GPR123	10	134942923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438	134942923	591824	11557	21874											
KNDC1	85442	broad.mit.edu	37	chr10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccaagacctcgaggCgctgctgagccggatgcagg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	152	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(454-456)gCg>gTg		kinase non-catalytic C-lobe domain (KIND) containing 1							23	25	25					10																	134996942		2198	4296	6494	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134996942C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.455C>T	10.37:g.134996942C>T	ENSP00000304437:p.Ala152Val					KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V	p.A152V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	4	476	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	152			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.455C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034408	0.35893	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.74209	-0.82;-0.82;2.17	4.39	0.088	0.14452	KIND (2);	0.821147	0.10660	N	0.648876	T	0.52645	0.1747	L	0.36672	1.1	0.19300	N	0.99997	B;P	0.35011	0.086;0.48	B;B	0.21151	0.011;0.033	T	0.38757	-0.9646	10	0.36615	T	0.2	-2.8011	1.4725	0.02419	0.1652:0.461:0.1731:0.2008	.	87;152	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	152;152;87	ENSP00000304437:A152V;ENSP00000357561:A152V;ENSP00000357560:A87V	ENSP00000304437:A152V	A	+	2	0	KNDC1	134846932	0.000000	0.05858	0.970000	0.41538	0.924000	0.55760	-0.626000	0.05527	-0.182000	0.10602	0.450000	0.29827	GCG		0.697	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		11	59	0	0	0	1	0	11	59					T	134996942	C	T	134996942	3	4	79	1	0	0	0	0	1	0	0	0	8456	768	27	1	469	1	KNDC1	10	134996942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54019	134996942	537805	11558	21875											
KNDC1	85442	broad.mit.edu	37	chr10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaccagctgggacgggttCcctgtgcaggccgcagcacg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T|KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	377					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGACGGGTTCCCTGTGCAGG	0.672																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1129-1131)Ccc>Acc		kinase non-catalytic C-lobe domain (KIND) containing 1							15	18	17					10																	134999981		2194	4294	6488	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134999981C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1129C>A	10.37:g.134999981C>A	ENSP00000304437:p.Pro377Thr					KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T|KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T	p.P377T			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1150	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	377					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1129C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071987	0.08436	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	3.66	1.72	0.24424	.	1.960230	0.03115	U	0.163004	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.001	B;B	0.24701	0.055;0.001	T	0.27502	-1.0072	10	0.52906	T	0.07	.	5.4819	0.16729	0.0:0.654:0.2237:0.1223	.	312;377	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	377;377;312	ENSP00000304437:P377T;ENSP00000357561:P377T;ENSP00000357560:P312T	ENSP00000304437:P377T	P	+	1	0	KNDC1	134849971	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.315000	0.19451	0.312000	0.23038	0.538000	0.68166	CCC		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		40	147	1	0	1.03484e-13	1	1.11885e-13	40	147					A	134999981	C	A	134999981	3	1	79	1	0	0	0	0	1	0	0	0	8456	855	30	3	1151	3	KNDC1	10	134999981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3039	134999981	534766	11559	21876											
KNDC1	85442	broad.mit.edu	37	chr10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgacccgactggccaggtCcaaaggggtcggcccagcct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1072				S -> P (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGCCAGGTCCAAAGGGGTC	0.701																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3214-3216)tCc>tAc		kinase non-catalytic C-lobe domain (KIND) containing 1							17	21	20					10																	135015230		2198	4294	6492	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015230C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3215C>A	10.37:g.135015230C>A	ENSP00000304437:p.Ser1072Tyr					KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y	p.S1072Y			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3236	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1072	S -> P (in Ref. 1; BAD12625).				B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3215C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832504	0.32421	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.13657	2.57;2.57;2.57	5.06	1.82	0.25136	.	1.421330	0.04761	N	0.426279	T	0.19685	0.0473	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.852;0.799;0.75	P;B;B	0.52598	0.703;0.263;0.171	T	0.30504	-0.9976	10	0.59425	D	0.04	-5.3684	7.7699	0.29001	0.0:0.6446:0.0:0.3554	.	1072;1007;1072	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	1072;1074;1007	ENSP00000304437:S1072Y;ENSP00000357561:S1074Y;ENSP00000357560:S1007Y	ENSP00000304437:S1072Y	S	+	2	0	KNDC1	134865220	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.016000	0.13377	0.516000	0.28340	0.313000	0.20887	TCC		0.701	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		34	119	1	0	1.61788e-16	1	1.7777e-16	34	119					A	135015230	C	A	135015230	3	1	79	1	0	0	0	0	1	0	0	0	8456	855	30	3	3281	3	KNDC1	10	135015230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15249	135015230	519517	11560	21877											
KNDC1	85442	broad.mit.edu	37	chr10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaaccccagggaggccGaggaggatgccagacccttc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1391					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGGAGGCCGAGGAGGATGC	0.672																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4171-4173)Gag>Aag		kinase non-catalytic C-lobe domain (KIND) containing 1																																				SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025297G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4171G>A	10.37:g.135025297G>A	ENSP00000304437:p.Glu1391Lys					KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K	p.E1391K			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	23	4192	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1391					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4171G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839178	0.16891	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16897	2.31;2.31	3.13	3.13	0.36017	Ras guanine nucleotide exchange factor, domain (1);	0.139666	0.46758	U	0.000269	T	0.08802	0.0218	L	0.27053	0.805	0.23747	N	0.996956	P	0.40107	0.703	B	0.30251	0.113	T	0.28713	-1.0035	10	0.19590	T	0.45	-27.3434	10.4476	0.44503	0.0:0.0:1.0:0.0	.	1391	Q76NI1	VKIND_HUMAN	K	1391;1393	ENSP00000304437:E1391K;ENSP00000357561:E1393K	ENSP00000304437:E1391K	E	+	1	0	KNDC1	134875287	0.997000	0.39634	0.436000	0.26797	0.085000	0.17905	3.034000	0.49751	1.713000	0.51359	0.282000	0.19409	GAG		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		38	153	0	0	0	1	0	38	153					A	135025297	G	A	135025297	3	1	79	1	0	0	0	0	1	0	0	0	8456	1059	37	1	4261	1	KNDC1	10	135025297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10067	135025297	509450	11561	21878											
KNDC1	85442	broad.mit.edu	37	chr10	135032456	135032456	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggccgtgaggcagtcccCtgtgcgtccccctcgggccc	13	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1600	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGTCCCCTGTGCGTCCC	0.597																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.e27+1		kinase non-catalytic C-lobe domain (KIND) containing 1							58	67	64					10																	135032456		2203	4300	6503	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135032456C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4800+1C>A	10.37:g.135032456C>A						KNDC1_ENST00000368572.2_Splice_Site_p.P1602_splice	p.P1600_splice			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	27	4820	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1600			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	37	c.4800_splice	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854650	0.71719	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28895	1.59;1.59	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.056032	0.64402	D	0.000001	T	0.50531	0.1621	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.52906	T	0.07	-11.2166	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1600	Q76NI1	VKIND_HUMAN	H	1600;1602	ENSP00000304437:P1600H;ENSP00000357561:P1602H	ENSP00000304437:P1600H	P	+	2	0	KNDC1	134882446	1.000000	0.71417	0.924000	0.36721	0.374000	0.29953	5.643000	0.67895	2.005000	0.58758	0.561000	0.74099	CCT		0.597	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	109	471	1	0	2.19198e-39	1	2.65045e-39	109	471					A	135032456	C	A	135032456	5	1	79	1	0	0	0	0	0	0	1	0	8456	695	24	3	4905	3	KNDC1	10	135032456	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7159	135032456	502291	11562	21879											
VENTX	27287	broad.mit.edu	37	chr10	135051472	135051472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctctccagctttggCtccgtggactggctctccca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	18					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCAGCTTTGGCTCCGTGGACT	0.726																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(52-54)ggC>ggT		VENT homeobox							8	9	9					10																	135051472		2133	4233	6366	SO:0001819	synonymous_variant	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135051472C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.54C>T	10.37:g.135051472C>T							p.G18G	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	565	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	18					Q32MZ3	Silent	SNP	ENST00000325980.9	37	c.54C>T	CCDS7675.1																																																																																				0.726	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		19	69	0	0	0	1	0	19	69					T	135051472	C	T	135051472	2	4	79	1	0	0	0	0	0	0	0	1	17207	784	28	2		2	VENTX	10	135051472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19016	135051472	483275	11563	21880											
VENTX	27287	broad.mit.edu	37	chr10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgacccacacccccaggcCtgccgacttctccctgggga	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCCCCAGGCCTGCCGACTTC	0.716																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(109-111)cCt>cAt		VENT homeobox							5	7	7					10																	135051528		2097	4194	6291	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135051528C>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.110C>A	10.37:g.135051528C>A	ENSP00000357556:p.Pro37His						p.P37H	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	621	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	37					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.110C>A	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714888	0.30413	.	.	ENSG00000151650	ENST00000325980	T	0.57595	0.39	1.9	1.9	0.25705	.	0.139797	0.48286	U	0.000196	T	0.38719	0.1051	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.36959	0.237	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.3167	0.26505	0.0:1.0:0.0:0.0	.	37	O95231	VENTX_HUMAN	H	37	ENSP00000357556:P37H	ENSP00000357556:P37H	P	+	2	0	VENTX	134901518	0.001000	0.12720	0.048000	0.18961	0.058000	0.15608	0.204000	0.17335	1.387000	0.46486	0.393000	0.25936	CCT		0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		16	54	1	0	3.45872e-05	1	3.53336e-05	16	54					A	135051528	C	A	135051528	3	1	79	1	0	0	0	0	1	0	0	0	17207	681	24	3	112	3	VENTX	10	135051528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	135051528	483219	11564	21881											
ADAM8	101	broad.mit.edu	37	chr10	135085191	135085191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggctgcagtcactgaaCatcctggggaaactggagct	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	ENST00000445355.3	-	12	1175	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	375	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGTCACTGAACATCCTGGGGA	0.682																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1123-1125)atG>atA		ADAM metallopeptidase domain 8							15	18	17					10																	135085191		2126	4207	6333	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135085191C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1125G>A	10.37:g.135085191C>T	ENSP00000453302:p.Met375Ile					ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I	p.M375I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1175	-		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)	336					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1125G>A	CCDS31319.2																																																																																				0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		6	39	0	0	0	1	0	6	39					T	135085191	C	T	135085191	3	4	79	1	0	0	0	0	1	0	0	0	252	478	17	2	1315	2	ADAM8	10	135085191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33663	135085191	449556	11565	21882											
ADAM8	101	broad.mit.edu	37	chr10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgtccacgtgattcaCcacctccagcacccgatgac	6	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	230	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(688-690)Gtg>Atg		ADAM metallopeptidase domain 8							66	59	61					10																	135086319		2197	4296	6493	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086319C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.688G>A	10.37:g.135086319C>T	ENSP00000453302:p.Val230Met					ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M	p.V230M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	8	738	-		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)	191					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.688G>A	CCDS31319.2																																																																																				0.672	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		39	195	0	0	0	1	0	39	195					T	135086319	C	T	135086319	3	4	79	1	0	0	0	0	1	0	0	0	252	507	18	2	1768	2	ADAM8	10	135086319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1128	135086319	448428	11566	21883											
TUBGCP2	10844	broad.mit.edu	37	chr10	135095825	135095825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccagctcgccatctaAtttcatgctctgtgtaaatt	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000252936.3	-	15	2350	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000368563.2_Silent_p.L771L|TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000543663.1_Silent_p.L799L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	771					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)				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)		TCGCCATCTAATTTCATGCTC	0.582																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2311-2313)Tta>Cta		tubulin, gamma complex associated protein 2							20	24	22					10																	135095825		2199	4299	6498	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095825A>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2311T>C	10.37:g.135095825A>G						TUBGCP2_ENST00000543663.1_Silent_p.L799L|TUBGCP2_ENST00000252936.3_Silent_p.L771L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368562.1_Silent_p.L364L	p.L771L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2667	-		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)	771					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.2311T>C	CCDS7676.1																																																																																				0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			31	134	0	0	0	1	0	31	134					G	135095825	A	G	135095825	2	3	79	1	0	0	0	0	0	0	0	1	16820	98	4	4		4	TUBGCP2	10	135095825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9506	135095825	438922	11567	21884											
TUBGCP2	10844	broad.mit.edu	37	chr10	135095846	135095846	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgctctgtgtaaattTctagggggggagagtcgcaa	13	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000252936.3	-	15	2329	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	764					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)				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)		TGTGTAAATTTCTAGGGGGGG	0.587																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.e16-1		tubulin, gamma complex associated protein 2							20	23	22					10																	135095846		2199	4299	6498	SO:0001630	splice_region_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095846T>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2290-1A>C	10.37:g.135095846T>G						TUBGCP2_ENST00000543663.1_Splice_Site_p.K792_splice|TUBGCP2_ENST00000252936.3_Splice_Site_p.K764_splice|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634_splice|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357_splice	p.K764_splice	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2646	-		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)	764					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Splice_Site	SNP	ENST00000252936.3	37	c.2289_splice	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046430	0.19748	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32023	2.48;2.22;2.48;1.47;2.48	4.71	2.24	0.28232	.	0.115504	0.56097	D	0.000035	T	0.16385	0.0394	N	0.22421	0.69	0.28609	N	0.908782	B;B;B	0.30542	0.284;0.049;0.138	B;B;B	0.23574	0.047;0.021;0.032	T	0.20338	-1.0278	10	0.13108	T	0.6	-21.9772	10.6963	0.45901	0.0:0.0:0.306:0.694	.	792;792;764	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	764;634;764;357;792	ENSP00000252936:K764Q;ENSP00000395666:K634Q;ENSP00000357551:K764Q;ENSP00000357550:K357Q;ENSP00000446093:K792Q	ENSP00000252936:K764Q	K	-	1	0	TUBGCP2	134945836	1.000000	0.71417	0.204000	0.23530	0.281000	0.26958	2.253000	0.43205	0.353000	0.24079	0.459000	0.35465	AAA		0.587	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		Missense_Mutation	28	138	0	0	0	1	0	28	138					G	135095846	T	G	135095846	5	3	79	1	0	0	0	0	0	0	1	0	16820	1797	62	4	430	4	TUBGCP2	10	135095846	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	135095846	438901	11568	21885											
TUBGCP2	10844	broad.mit.edu	37	chr10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcctctccttccgcagctCgtgctcctcgaccataaact	6	17	1	0	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000252936.3	-	8	1276	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	413					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)				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)		TTCCGCAGCTCGTGCTCCTCG	0.582																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1237-1239)Gag>Aag		tubulin, gamma complex associated protein 2		C	LYS/GLU	0,4406		0,0,2203	252	173	200		1237	5.6	1	10	dbSNP_134	200	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TUBGCP2	NM_006659.2	56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	413/903	135103451	5,13001	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.chr10:135103451C>T	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.1237G>A	10.37:g.135103451C>T	ENSP00000252936:p.Glu413Lys					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E413K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K	p.E413K	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	9	1593	-		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)	413					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1237G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000465	0.74818	0.0	5.81E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.30448	2.44;2.21;2.44;1.53;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.21508	0.67	0.80722	D	1	P;P;P	0.48407	0.744;0.604;0.91	B;B;P	0.48795	0.18;0.274;0.59	T	0.01108	-1.1449	10	0.23891	T	0.37	-39.9652	18.667	0.91493	0.0:1.0:0.0:0.0	.	441;441;413	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	K	413;283;413;6;441	ENSP00000252936:E413K;ENSP00000395666:E283K;ENSP00000357551:E413K;ENSP00000357550:E6K;ENSP00000446093:E441K	ENSP00000252936:E413K	E	-	1	0	TUBGCP2	134953441	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.789000	0.69029	2.832000	0.97577	0.655000	0.94253	GAG		0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			65	244	0	0	0	1	0	65	244					T	135103451	C	T	135103451	3	4	79	1	0	0	0	0	1	0	0	0	16820	893	31	1	1511	1	TUBGCP2	10	135103451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7605	135103451	431296	11569	21886											
MTG1	92170	broad.mit.edu	37	chr10	135211958	135211958	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattatgcaacacttagAaggagaaggcctaaaaaatg	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135211958A>C	ENST00000317502.6	+	4	352	c.302A>C	c.(301-303)gAa>gCa	p.E101A	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E106A|MTG1_ENST00000477902.2_Missense_Mutation_p.E60A	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	101	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CAACACTTAGAAGGAGAAGGC	0.408																																						ENST00000468317.2																			0											c.(316-318)gAa>gCa									109	107	108					10																	135211958		2203	4300	6503	SO:0001583	missense	0							g.chr10:135211958A>C		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.302A>C	10.37:g.135211958A>C	ENSP00000323047:p.Glu101Ala					MTG1_ENST00000317502.6_Missense_Mutation_p.E101A|MTG1_ENST00000477902.2_Missense_Mutation_p.E60A	p.E106A							5	572	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.317A>C	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	a	11.36	1.614812	0.28712	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14144	2.53;2.53;2.53	4.91	3.75	0.43078	.	2.760420	0.01439	N	0.015030	T	0.15478	0.0373	L	0.35249	1.045	0.20703	N	0.999862	B;B	0.22604	0.072;0.04	B;B	0.26614	0.071;0.015	T	0.34378	-0.9831	10	0.34782	T	0.22	-10.5334	9.9324	0.41530	0.8282:0.1718:0.0:0.0	.	101;101	E7EVK2;Q9BT17	.;MTG1_HUMAN	A	106;101;101;60	ENSP00000436767:E106A;ENSP00000323047:E101A;ENSP00000393480:E101A	ENSP00000323047:E101A	E	+	2	0	AL360181.1;MTG1	135061948	1.000000	0.71417	0.907000	0.35723	0.892000	0.51952	3.316000	0.51960	0.699000	0.31761	0.445000	0.29226	GAA		0.408	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		99	417	0	0	0	1	0	99	417					C	135211958	A	C	135211958	3	2	79	1	0	0	0	0	1	0	0	0	9967	246	9	4	316	4	MTG1	10	135211958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108507	135211958	322789	11570	21887											
CYP2E1	1571	broad.mit.edu	37	chr10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgtaggccagcctttcGaccccaccttcctcatcggc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000480558.1_3'UTR|AL161645.2_ENST00000599428.1_5'Flank|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)Gac>Aac		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						121	107	112					10																	135345639		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345639G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.499G>A	10.37:g.135345639G>A	ENSP00000440689:p.Asp167Asn					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR	p.D167N			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	771	+		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)	167					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.499G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC		0.552	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		37	523	0	0	0	1	0	37	523					A	135345639	G	A	135345639	3	1	79	1	0	0	0	0	1	0	0	0	4181	1058	37	1	513	1	CYP2E1	10	135345639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133681	135345639	189108	11571	21888											
RIC8A	60626	broad.mit.edu	37	chr11	209565	209565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactagcctgctatgctgaCatctctgtctctgaggggtc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.D97D|RIC8A_ENST00000527696.1_Silent_p.D91D|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	97					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATGCTGACATCTCTGTCT	0.612																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(289-291)gaC>gaT		RIC8 guanine nucleotide exchange factor A							58	57	58					11																	209565		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209565C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.291C>T	11.37:g.209565C>T						RIC8A_ENST00000527696.1_Silent_p.D91D|RIC8A_ENST00000325207.5_Silent_p.D97D	p.D97D			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1635	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	97					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.291C>T																																																																																					0.612	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		61	228	0	0	0	1	0	61	228					T	209565	C	T	209565	2	4	79	1	0	0	0	0	0	0	0	1	13405	477	17	2		2	RIC8A	11	209565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		209565	134796951	11572	21889											
ATHL1	80162	broad.mit.edu	37	chr11	290822	290822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcctgacagcagtgggCggcagccaggctgaggctca	15	12	1	2	rs564622719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409548.2	+	4	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409655.1_Silent_p.G28G|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	205					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCAGTGGGCGGCAGCCAGG	0.652																																						ENST00000409548.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(613-615)ggC>ggT		ATH1, acid trehalase-like 1 (yeast)							47	46	47					11																	290822		2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:290822C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.615C>T	11.37:g.290822C>T						ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409655.1_Silent_p.G28G	p.G205G	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	730	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	205					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.615C>T	CCDS31322.2																																																																																				0.652	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		73	257	0	0	0	1	0	73	257					T	290822	C	T	290822	2	4	79	1	0	0	0	0	0	0	0	1	1105	755	27	1		1	ATHL1	11	290822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81257	290822	134715694	11573	21890											
B4GALNT4	338707	broad.mit.edu	37	chr11	373496	373496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattcaccaagttcagctcCcaggtgtccaagcccaggcg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	228					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(682-684)tcC>tcA		beta-1,4-N-acetyl-galactosaminyl transferase 4							84	87	86					11																	373496		2197	4297	6494	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373496C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.684C>A	11.37:g.373496C>A							p.S228S	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	684	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	228					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.684C>A	CCDS7694.1																																																																																				0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		60	423	1	0	4.13886e-29	1	4.83036e-29	60	423					A	373496	C	A	373496	2	1	79	1	0	0	0	0	0	0	0	1	1270	610	22	3		3	B4GALNT4	11	373496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82674	373496	134633020	11574	21891											
B4GALNT4	338707	broad.mit.edu	37	chr11	373509	373509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcccaggtgtccaagCccaggcggtgagtgactgtg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	233					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(697-699)Ccc>Tcc		beta-1,4-N-acetyl-galactosaminyl transferase 4							85	90	89					11																	373509		2196	4298	6494	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373509C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.697C>T	11.37:g.373509C>T	ENSP00000328277:p.Pro233Ser						p.P233S	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	697	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	233					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.697C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166235	0.57476	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.23	4.23	0.50019	PA14 (2);	0.320979	0.28901	N	0.013763	T	0.30166	0.0756	L	0.48877	1.53	0.44352	D	0.997242	D	0.52996	0.957	P	0.50490	0.642	T	0.07309	-1.0779	10	0.56958	D	0.05	-25.8667	17.1578	0.86796	0.0:1.0:0.0:0.0	.	233	Q76KP1	B4GN4_HUMAN	S	233	ENSP00000328277:P233S	ENSP00000328277:P233S	P	+	1	0	B4GALNT4	363509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.864000	0.39469	2.337000	0.79520	0.462000	0.41574	CCC		0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		63	458	0	0	0	1	0	63	458					T	373509	C	T	373509	3	4	79	1	0	0	0	0	1	0	0	0	1270	739	26	2	723	2	B4GALNT4	11	373509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	373509	134633007	11575	21892											
B4GALNT4	338707	broad.mit.edu	37	chr11	375875	375875	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggaatcttcgagcctggaGaacgtgctggagccctgcgc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	338					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1012-1014)gaG>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 4							37	29	32					11																	375875		2189	4294	6483	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375875G>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1014G>T	11.37:g.375875G>T	ENSP00000328277:p.Glu338Asp						p.E338D	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1014	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	338					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1014G>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158463	0.38119	.	.	ENSG00000182272	ENST00000329962	T	0.73897	-0.79	3.61	2.69	0.31865	.	0.912273	0.09321	N	0.818214	T	0.67915	0.2944	L	0.58101	1.795	0.39391	D	0.966419	B	0.27351	0.176	B	0.22386	0.039	T	0.63116	-0.6709	10	0.44086	T	0.13	-35.4561	7.1343	0.25519	0.0955:0.173:0.7315:0.0	.	338	Q76KP1	B4GN4_HUMAN	D	338	ENSP00000328277:E338D	ENSP00000328277:E338D	E	+	3	2	B4GALNT4	365875	1.000000	0.71417	0.758000	0.31321	0.632000	0.37999	3.133000	0.50531	0.852000	0.35287	0.491000	0.48974	GAG		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		25	100	1	0	2.27525e-19	1	2.53767e-19	25	100					T	375875	G	T	375875	3	4	79	1	0	0	0	0	1	0	0	0	1270	933	33	3	1056	3	B4GALNT4	11	375875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	375875	134630641	11576	21893											
B4GALNT4	338707	broad.mit.edu	37	chr11	376150	376150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacaagtgcttctaccGcgagtctccgctgtatctgg	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	391					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							29	28	29					11																	376150		2201	4290	6491	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376150G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1172G>A	11.37:g.376150G>A	ENSP00000328277:p.Arg391His						p.R391H	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1172	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	391					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1172G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.520086	0.85495	.	.	ENSG00000182272	ENST00000329962	T	0.72615	-0.67	3.01	3.01	0.34805	.	0.137013	0.44688	D	0.000430	T	0.79953	0.4535	L	0.55990	1.75	0.49213	D	0.999765	D	0.89917	1.0	D	0.80764	0.994	T	0.83037	-0.0159	10	0.72032	D	0.01	-20.3149	15.2295	0.73374	0.0:0.0:1.0:0.0	.	391	Q76KP1	B4GN4_HUMAN	H	391	ENSP00000328277:R391H	ENSP00000328277:R391H	R	+	2	0	B4GALNT4	366150	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	5.187000	0.65087	1.978000	0.57642	0.436000	0.28706	CGC		0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		37	185	0	0	0	1	0	37	185					A	376150	G	A	376150	3	1	79	1	0	0	0	0	1	0	0	0	1270	1087	38	1	1218	1	B4GALNT4	11	376150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	376150	134630366	11577	21894											
B4GALNT4	338707	broad.mit.edu	37	chr11	377173	377173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgccatcgactggcagCgcacgttcagcgtgggcgcc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	ENST00000329962.6	+	14	2050	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	684					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACTGGCAGCGCACGTTCAG	0.726																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2050-2052)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							10	8	8					11																	377173		2048	4072	6120	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:377173C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2050C>T	11.37:g.377173C>T	ENSP00000328277:p.Arg684Cys						p.R684C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2050	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	684					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2050C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719105	0.68844	.	.	ENSG00000182272	ENST00000329962	T	0.08546	3.08	3.52	3.52	0.40303	.	0.065101	0.56097	D	0.000032	T	0.23611	0.0571	M	0.63428	1.95	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	T	0.00964	-1.1498	10	0.87932	D	0	-27.6998	11.936	0.52874	0.25:0.75:0.0:0.0	.	684	Q76KP1	B4GN4_HUMAN	C	684	ENSP00000328277:R684C	ENSP00000328277:R684C	R	+	1	0	B4GALNT4	367173	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.794000	0.38774	1.974000	0.57490	0.436000	0.28706	CGC		0.726	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		8	40	0	0	0	1	0	8	40					T	377173	C	T	377173	3	4	79	1	0	0	0	0	1	0	0	0	1270	768	27	1	2104	1	B4GALNT4	11	377173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	377173	134629343	11578	21895											
B4GALNT4	338707	broad.mit.edu	37	chr11	377297	377297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgtgaccgctcagtAcatggagcggctgaacgcgc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	725					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2173-2175)tAc>tGc		beta-1,4-N-acetyl-galactosaminyl transferase 4							14	9	11					11																	377297		2041	4043	6084	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:377297A>G	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2174A>G	11.37:g.377297A>G	ENSP00000328277:p.Tyr725Cys						p.Y725C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2174	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	725					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2174A>G	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044333	0.36085	.	.	ENSG00000182272	ENST00000329962	T	0.15139	2.45	3.28	3.28	0.37604	.	0.081321	0.51477	D	0.000094	T	0.37376	0.1001	M	0.68952	2.095	0.41763	D	0.98972	D	0.76494	0.999	D	0.81914	0.995	T	0.28744	-1.0034	10	0.72032	D	0.01	-27.5924	12.0889	0.53713	1.0:0.0:0.0:0.0	.	725	Q76KP1	B4GN4_HUMAN	C	725	ENSP00000328277:Y725C	ENSP00000328277:Y725C	Y	+	2	0	B4GALNT4	367297	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.606000	0.54095	1.508000	0.48769	0.172000	0.16884	TAC		0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		9	51	0	0	0	1	0	9	51					G	377297	A	G	377297	3	3	79	1	0	0	0	0	1	0	0	0	1270	391	14	4	2228	4	B4GALNT4	11	377297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	124	377297	134629219	11579	21896											
B4GALNT4	338707	broad.mit.edu	37	chr11	380400	380400	+	Missense_Mutation	SNP	G	G	A													gcaggctggccttcgcgcccGtggtcatgcgcctgagctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	942				V -> M (in Ref. 2; BAB71566). {ECO:0000305}.	metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2824-2826)Gtg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 4							48	36	40					11																	380400		2203	4296	6499	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380400G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2824G>A	11.37:g.380400G>A	ENSP00000328277:p.Val942Met						p.V942M	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2824	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	942	V -> M (in Ref. 2; BAB71566).				Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2824G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	9.285	1.049146	0.19827	.	.	ENSG00000182272	ENST00000329962	T	0.20332	2.08	3.81	3.81	0.43845	.	0.060502	0.64402	D	0.000008	T	0.09379	0.0231	N	0.12182	0.205	0.37812	D	0.928063	P	0.41524	0.753	B	0.40477	0.33	T	0.17137	-1.0379	10	0.12430	T	0.62	-32.6499	4.8054	0.13317	0.2853:0.0:0.7147:0.0	.	942	Q76KP1	B4GN4_HUMAN	M	942	ENSP00000328277:V942M	ENSP00000328277:V942M	V	+	1	0	B4GALNT4	370400	1.000000	0.71417	0.915000	0.36163	0.751000	0.42716	5.998000	0.70653	2.118000	0.64928	0.561000	0.74099	GTG		0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		40	132	0	0	0	1	0	40	132					A	380400	G	A	380400	3	1	79	1	0	0	0	0	1	0	0	0	1270	1145	40	1	2894	1	B4GALNT4	11	380400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3103	380400	134626116	11580	21897	136	2									
B4GALNT4	338707	broad.mit.edu	37	chr11	380410	380410	+	Missense_Mutation	SNP	G	G	A													cttcgcgcccgtggtcatgcGcctgagctgcgggagctcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	ENST00000329962.6	+	18	2834	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	945					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCATGCGCCTGAGCTGC	0.682																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2833-2835)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							41	32	35					11																	380410		2203	4295	6498	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380410G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2834G>A	11.37:g.380410G>A	ENSP00000328277:p.Arg945His						p.R945H	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2834	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	945					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2834G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.633137	0.87660	.	.	ENSG00000182272	ENST00000329962	T	0.15487	2.42	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.88450	2.955	0.50039	D	0.99984	D	0.89917	1.0	D	0.85130	0.997	T	0.61903	-0.6967	10	0.72032	D	0.01	-25.972	16.2551	0.82510	0.0:0.0:1.0:0.0	.	945	Q76KP1	B4GN4_HUMAN	H	945	ENSP00000328277:R945H	ENSP00000328277:R945H	R	+	2	0	B4GALNT4	370410	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.399000	0.97285	2.118000	0.64928	0.561000	0.74099	CGC		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		26	107	0	0	0	1	0	26	107					A	380410	G	A	380410	3	1	79	1	0	0	0	0	1	0	0	0	1270	1087	38	1	2904	1	B4GALNT4	11	380410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	380410	134626106	11581	21898	136	2									
PKP3	11187	broad.mit.edu	37	chr11	396980	396980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctcccatgcccaccaGgcccgtgtccttccatgagc	7	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	160					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(478-480)aGg>aAg		plakophilin 3							13	16	15					11																	396980		2171	4264	6435	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:396980G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.479G>A	11.37:g.396980G>A	ENSP00000331678:p.Arg160Lys					PKP3_ENST00000530695.1_3'UTR	p.R160K	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	555	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	160					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.479G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282506	0.59867	.	.	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80994	-1.44	3.03	3.03	0.35002	.	1.122620	0.06787	N	0.786346	T	0.78861	0.4350	L	0.50333	1.59	0.35502	D	0.799911	P	0.48764	0.915	B	0.44224	0.444	T	0.75614	-0.3257	10	0.25751	T	0.34	-26.2681	13.4207	0.60996	0.0:0.0:1.0:0.0	.	160	Q9Y446	PKP3_HUMAN	K	4;4;4;4;160;102	ENSP00000331678:R160K	ENSP00000331678:R160K	R	+	2	0	PKP3	386980	1.000000	0.71417	0.958000	0.39756	0.315000	0.28087	1.481000	0.35476	2.007000	0.58848	0.457000	0.33378	AGG		0.721	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		42	129	0	0	0	1	0	42	129					A	396980	G	A	396980	3	1	79	1	0	0	0	0	1	0	0	0	12028	1000	35	2	489	2	PKP3	11	396980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	396980	134609536	11582	21899											
PKP3	11187	broad.mit.edu	37	chr11	399008	399008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcccgcagccttcaggCcgtgcctaggctggtgaagc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	362					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1084-1086)gCc>gTc		plakophilin 3							96	83	88					11																	399008		2199	4292	6491	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399008C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1085C>T	11.37:g.399008C>T	ENSP00000331678:p.Ala362Val						p.A362V	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1161	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	362					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1085C>T	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731141	0.48939	.	.	ENSG00000184363	ENST00000331563	T	0.70282	-0.47	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.067408	0.64402	D	0.000018	T	0.74298	0.3698	N	0.25647	0.755	0.49130	D	0.999757	D	0.69078	0.997	D	0.65140	0.932	T	0.79347	-0.1841	10	0.87932	D	0	-9.5982	16.4754	0.84131	0.0:1.0:0.0:0.0	.	362	Q9Y446	PKP3_HUMAN	V	362	ENSP00000331678:A362V	ENSP00000331678:A362V	A	+	2	0	PKP3	389008	1.000000	0.71417	0.891000	0.34965	0.225000	0.24961	4.398000	0.59697	1.968000	0.57251	0.486000	0.48141	GCC		0.612	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		57	331	0	0	0	1	0	57	331					T	399008	C	T	399008	3	4	79	1	0	0	0	0	1	0	0	0	12028	739	26	2	1103	2	PKP3	11	399008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2028	399008	134607508	11583	21900											
SIGIRR	59307	broad.mit.edu	37	chr11	405971	405971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagccgagatccgagacGtccacttcgctgctccggct	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000431843.2	-	10	1464	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	386					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617																																						ENST00000382520.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1447-1449)Cgt>Tgt		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							51	42	45					11																	405971		2200	4293	6493	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:405971G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1158C>T	11.37:g.405971G>A						SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000431843.2_Silent_p.D386D|SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C	p.R483C			Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1631	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	0					Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.1447C>T	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.29|15.29	2.788298|2.788298	0.49997|0.49997	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.04317|.	3.65;3.65|.	3.54|3.54	-0.934|-0.934	0.10428|0.10428	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	.|.	.|.	.|.	0.29424|0.29424	N|N	0.860311|0.860311	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.36915|0.36915	-0.9728|-0.9728	8|4	0.87932|.	D|.	0|.	.|.	7.8452|7.8452	0.29421|0.29421	0.4184:0.0:0.5816:0.0|0.4184:0.0:0.5816:0.0	.|.	483|.	C9JFX4|.	.|.	C|M	483|118	ENSP00000433022:R483C;ENSP00000371960:R483C|.	ENSP00000371960:R483C|.	R|T	-|-	1|2	0|0	SIGIRR|SIGIRR	395971|395971	0.004000|0.004000	0.15560|0.15560	0.936000|0.936000	0.37596|0.37596	0.969000|0.969000	0.65631|0.65631	0.104000|0.104000	0.15313|0.15313	-0.138000|-0.138000	0.11434|0.11434	0.491000|0.491000	0.48974|0.48974	CGT|ACG		0.617	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		20	88	0	0	0	1	0	20	88					A	405971	G	A	405971	2	1	79	1	0	0	0	0	0	0	0	1	14354	1136	40	1		1	SIGIRR	11	405971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6963	405971	134600545	11584	21901											
SIGIRR	59307	broad.mit.edu	37	chr11	407518	407518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagttcacgaacttgcGgtcctcggggcagtcgctgt	14	10	1	1	rs200106219	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	178	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(532-534)Cgc>Tgc		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							27	27	27					11																	407518		2188	4290	6478	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407518G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.532C>T	11.37:g.407518G>A	ENSP00000403104:p.Arg178Cys					SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR	p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	838	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	178			TIR.		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.532C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.751638	0.49362	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209;ENST00000530494	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	2.75	1.81	0.25067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.072087	0.56097	D	0.000036	T	0.25344	0.0616	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.01078	-1.1459	10	0.87932	D	0	.	9.1772	0.37118	0.0:0.0:0.6093:0.3907	.	178;178	C9JFX4;Q6IA17	.;SIGIR_HUMAN	C	178;178;178;178;178;74;122	ENSP00000403104:R178C;ENSP00000380756:R178C;ENSP00000333656:R178C;ENSP00000433022:R178C;ENSP00000371960:R178C;ENSP00000435135:R74C	ENSP00000333656:R178C	R	-	1	0	SIGIRR	397518	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.303000	0.33470	0.725000	0.32318	0.289000	0.19496	CGC		0.667	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		10	67	0	0	0	1	0	10	67					A	407518	G	A	407518	3	1	79	1	0	0	0	0	1	0	0	0	14354	1116	39	1	720	1	SIGIRR	11	407518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1547	407518	134598998	11585	21902											
SIGIRR	59307	broad.mit.edu	37	chr11	407555	407555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagacgtaggcgtcGtagagcttcccgtctgcgga	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	165	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(493-495)taC>taT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							25	26	26					11																	407555		2190	4291	6481	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407555G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.495C>T	11.37:g.407555G>A						SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR	p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	801	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	165			TIR.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.495C>T	CCDS31325.1																																																																																				0.652	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		16	72	0	0	0	1	0	16	72					A	407555	G	A	407555	2	1	79	1	0	0	0	0	0	0	0	1	14354	1140	40	1		1	SIGIRR	11	407555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	407555	134598961	11586	21903											
ANO9	338440	broad.mit.edu	37	chr11	418966	418966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagacggacaggctgTggttgacgtagcccttgagg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000332725.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	653					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1957-1959)cAc>cGc		anoctamin 9							161	141	148					11																	418966		2203	4300	6503	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:418966T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1958A>G	11.37:g.418966T>C	ENSP00000332788:p.His653Arg						p.H653R	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			21	2042	-			653					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1958A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	t	17.05	3.289423	0.59976	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	4.44	3.3	0.37823	.	0.402097	0.25164	N	0.032656	T	0.71913	0.3396	M	0.78456	2.415	0.36470	D	0.867201	P;D	0.67145	0.929;0.996	P;P	0.60345	0.503;0.873	T	0.74402	-0.3677	10	0.42905	T	0.14	.	7.4028	0.26973	0.0:0.1758:0.0:0.8242	.	354;653	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	653	ENSP00000332788:H653R	ENSP00000332788:H653R	H	-	2	0	ANO9	408966	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.075000	0.57584	0.684000	0.31448	0.391000	0.25812	CAC		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		144	635	0	0	0	1	0	144	635					C	418966	T	C	418966	3	2	79	1	0	0	0	0	1	0	0	0	704	1696	59	4	402	4	ANO9	11	418966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11411	418966	134587550	11587	21904											
ANO9	338440	broad.mit.edu	37	chr11	420737	420737	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatctccatgaactcgtcGaacaggctgaaggtgttgac	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	538					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1612-1614)ttC>ttT		anoctamin 9							22	25	24					11																	420737		2198	4296	6494	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:420737G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1614C>T	11.37:g.420737G>A							p.F538F	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			18	1698	-			538					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1614C>T	CCDS31326.1																																																																																				0.706	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		24	100	0	0	0	1	0	24	100					A	420737	G	A	420737	2	1	79	1	0	0	0	0	0	0	0	1	704	1049	37	1		1	ANO9	11	420737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1771	420737	134585779	11588	21905											
PTDSS2	81490	broad.mit.edu	37	chr11	488249	488249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatcatcagcgtgatgttCgagttcctggagtacagcct	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	224					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(670-672)ttC>ttT		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						149	125	133					11																	488249		2203	4300	6503	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:488249C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.672C>T	11.37:g.488249C>T							p.F224F	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	7	848	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	224						Silent	SNP	ENST00000308020.5	37	c.672C>T	CCDS7696.1																																																																																				0.637	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			50	237	0	0	0	1	0	50	237					T	488249	C	T	488249	2	4	79	1	0	0	0	0	0	0	0	1	12784	883	31	1		1	PTDSS2	11	488249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67512	488249	134518267	11589	21906											
PTDSS2	81490	broad.mit.edu	37	chr11	489663	489663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcactacctggtcctcCtgcggctcgtcttcttcgtg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	349					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1045-1047)Ctg>Ttg		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						53	46	48					11																	489663		2199	4299	6498	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:489663C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1045C>T	11.37:g.489663C>T							p.L349L	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1221	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	349						Silent	SNP	ENST00000308020.5	37	c.1045C>T	CCDS7696.1																																																																																				0.597	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			22	45	0	0	0	1	0	22	45					T	489663	C	T	489663	2	4	79	1	0	0	0	0	0	0	0	1	12784	680	24	2		2	PTDSS2	11	489663	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	489663	134516853	11590	21907											
RNH1	6050	broad.mit.edu	37	chr11	494985	494985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtccagctcacgcaggCtgtggttggccaacagggtt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACGCAGGCTGTGGTTGGC	0.687																																						ENST00000534797.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1195-1197)aGc>aTc		ribonuclease/angiogenin inhibitor 1							25	25	25					11																	494985		2200	4298	6498	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:494985C>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1196G>T	11.37:g.494985C>A	ENSP00000433999:p.Ser399Ile					RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I	p.S399I			P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	2603	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	399					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.1196G>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058631	0.55325	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.87	3.87	0.44632	.	0.317042	0.26539	N	0.023807	D	0.82838	0.5124	M	0.92367	3.3	0.37013	D	0.895833	D	0.89917	1.0	D	0.97110	1.0	D	0.86268	0.1659	10	0.72032	D	0.01	.	7.5396	0.27731	0.0:0.8859:0.0:0.1141	.	399	P13489	RINI_HUMAN	I	399;399;399;399;193;399;399;399;399	ENSP00000433999:S399I;ENSP00000380738:S399I;ENSP00000380739:S399I;ENSP00000380729:S399I;ENSP00000432170:S193I;ENSP00000435594:S399I;ENSP00000416589:S399I;ENSP00000346402:S399I;ENSP00000348515:S399I	ENSP00000346402:S399I	S	-	2	0	RNH1	484985	0.024000	0.19004	0.943000	0.38184	0.432000	0.31715	0.415000	0.21181	2.465000	0.83290	0.655000	0.94253	AGC		0.687	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		7	76	1	0	0.248553	1	0.24873	7	76					A	494985	C	A	494985	3	1	79	1	0	0	0	0	1	0	0	0	13554	797	28	3	197	3	RNH1	11	494985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5322	494985	134511531	11591	21908											
HRAS	3265	broad.mit.edu	37	chr11	533503	533503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgccgtagcttcgggCgaggtcctgagcctgccgag	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000451590.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000417302.1_Missense_Mutation_p.A134T|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	134					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.A134S(2)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCTTCGGGCGAGGTCCTGA	0.662		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		2	Substitution - Missense(2)	p.A134S(2)	haematopoietic_and_lymphoid_tissue(2)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(400-402)Gcc>Acc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						152	136	142					11																	533503		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533503C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.400G>A	11.37:g.533503C>T	ENSP00000407586:p.Ala134Thr	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000451590.1_Missense_Mutation_p.A134T	p.A134T	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	587	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	134					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.400G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565125	0.86439	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.938;0.978	D	0.94475	0.7688	10	0.87932	D	0	.	12.9091	0.58171	0.0:0.8348:0.1651:0.0	.	134;134	P01112-2;P01112	.;RASH_HUMAN	T	134	ENSP00000380722:A134T;ENSP00000380723:A134T;ENSP00000407586:A134T;ENSP00000388246:A134T;ENSP00000309845:A134T	ENSP00000309845:A134T	A	-	1	0	HRAS	523503	1.000000	0.71417	0.885000	0.34714	0.857000	0.48899	5.759000	0.68785	0.801000	0.34066	0.561000	0.74099	GCC		0.662	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		102	520	0	0	0	1	0	102	520					T	533503	C	T	533503	3	4	79	1	0	0	0	0	1	0	0	0	7378	768	27	1	244	1	HRAS	11	533503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38518	533503	134473013	11592	21909											
PHRF1	57661	broad.mit.edu	37	chr11	587346	587346	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccgctggctctttcaattCtgatgatgatgcagagagct	11	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(301-303)tCt>tAt		PHD and ring finger domains 1							75	81	80					11																	587346		2003	4173	6176	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587346C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.302C>A	11.37:g.587346C>A	ENSP00000264555:p.Ser101Tyr					PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y	p.S101Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	430	+			101					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.302C>A		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316680	0.60524	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82711	-1.63;-1.62;-1.64;-1.62	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90981	0.7164	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92354	0.5892	10	0.87932	D	0	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	101;100;101;97	ENSP00000264555:S101Y;ENSP00000388589:S100Y;ENSP00000410626:S101Y;ENSP00000431870:S97Y	ENSP00000264555:S101Y	S	+	2	0	PHRF1	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT		0.562	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		87	253	1	0	6.85908e-49	1	8.47524e-49	87	253					A	587346	C	A	587346	3	1	79	1	0	0	0	0	1	0	0	0	11903	913	32	3	312	3	PHRF1	11	587346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53843	587346	134419170	11593	21910											
DEAF1	10522	broad.mit.edu	37	chr11	688045	688045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagccagaggggttggaGgagactgaggaccttgggca	20	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	177					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(529-531)cCt>cAt		DEAF1 transcription factor							49	57	54					11																	688045		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688045G>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.530C>A	11.37:g.688045G>T	ENSP00000371846:p.Pro177His					DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	4	1014	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	177					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.530C>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742636	0.89573	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.68624	-0.34	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.27053	0.805	0.44780	D	0.997786	D	0.71674	0.998	P	0.60173	0.87	T	0.74176	-0.3750	10	0.87932	D	0	-12.841	15.6697	0.77264	0.0:0.0:1.0:0.0	.	177	O75398	DEAF1_HUMAN	H	177;177;163;100	ENSP00000371846:P177H	ENSP00000341902:P177H	P	-	2	0	DEAF1	678045	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.261000	0.95576	2.349000	0.79799	0.655000	0.94253	CCT		0.572	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		18	215	1	0	1.33834e-09	1	1.40959e-09	18	215					T	688045	G	T	688045	3	4	79	1	0	0	0	0	1	0	0	0	4391	1000	35	3	1203	3	DEAF1	11	688045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100699	688045	134318471	11594	21911											
EPS8L2	64787	broad.mit.edu	37	chr11	721660	721660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaaccagcggaaaaaGgggaagaagaagggcaagaa	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K|EPS8L2_ENST00000318562.8_Silent_p.K288K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(862-864)aaG>aaA		EPS8-like 2							35	45	42					11																	721660		2196	4289	6485	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:721660G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.864G>A	11.37:g.721660G>A						EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000318562.8_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K|AP006621.9_ENST00000527021.2_RNA	p.K288K			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1239	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	288					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.864G>A	CCDS31328.1																																																																																				0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		42	219	0	0	0	1	0	42	219					A	721660	G	A	721660	2	1	79	1	0	0	0	0	0	0	0	1	5214	991	35	2		2	EPS8L2	11	721660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	721660	134284856	11595	21912											
EPS8L2	64787	broad.mit.edu	37	chr11	722509	722509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggtccctaaggagatgTcgctgtgggagtcactggga	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	390					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1168-1170)Tcg>Ccg		EPS8-like 2							55	50	52					11																	722509		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722509T>C	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1168T>C	11.37:g.722509T>C	ENSP00000435585:p.Ser390Pro					EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|AP006621.9_ENST00000527021.2_RNA	p.S390P			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1543	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	390					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1168T>C	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.897953	0.33535	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.98	-0.829	0.10796	.	1.727610	0.03872	U	0.275779	T	0.17662	0.0424	L	0.38175	1.15	0.29120	N	0.880295	B;B	0.31730	0.337;0.337	B;B	0.32289	0.143;0.143	T	0.28267	-1.0049	10	0.41790	T	0.15	-5.1488	6.6122	0.22757	0.1299:0.0:0.6541:0.216	.	406;390	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	P	390;390;390;406	ENSP00000320828:S390P;ENSP00000435585:S390P;ENSP00000436035:S390P;ENSP00000436230:S406P	ENSP00000320828:S390P	S	+	1	0	EPS8L2	712509	0.005000	0.15991	0.399000	0.26333	0.763000	0.43281	-0.021000	0.12504	-0.341000	0.08376	0.398000	0.26397	TCG		0.687	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		37	198	0	0	0	1	0	37	198					C	722509	T	C	722509	3	2	79	1	0	0	0	0	1	0	0	0	5214	1667	58	4	1214	4	EPS8L2	11	722509	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	849	722509	134284007	11596	21913											
EPS8L2	64787	broad.mit.edu	37	chr11	725803	725803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacgtgccctgcaacatcCtaggcgaggcgcgaccggag	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	546	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1636-1638)Cta>Ata		EPS8-like 2							5	7	7					11																	725803		1840	3856	5696	SO:0001583	missense	64787					cytoplasm		g.chr11:725803C>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1636C>A	11.37:g.725803C>A	ENSP00000435585:p.Leu546Ile					EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|AP006621.9_ENST00000527021.2_RNA	p.L546I			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2011	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	546			SH3.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1636C>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.927052	0.52759	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.19	2.27	0.28462	Src homology-3 domain (3);	0.118681	0.35555	N	0.003132	T	0.42517	0.1206	L	0.46885	1.475	0.40983	D	0.984797	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.31641	-0.9936	10	0.72032	D	0.01	-20.6528	6.846	0.23988	0.0:0.7603:0.0:0.2397	.	562;546	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	546;546;546;562	ENSP00000320828:L546I;ENSP00000435585:L546I;ENSP00000436035:L546I;ENSP00000436230:L562I	ENSP00000320828:L546I	L	+	1	2	EPS8L2	715803	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	1.194000	0.32174	0.688000	0.31529	0.457000	0.33378	CTA		0.766	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		11	48	1	0	2.32078e-09	1	2.442e-09	11	48					A	725803	C	A	725803	3	1	79	1	0	0	0	0	1	0	0	0	5214	680	24	3	1698	3	EPS8L2	11	725803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3294	725803	134280713	11597	21914											
SLC25A22	79751	broad.mit.edu	37	chr11	792041	792041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcgcccttcaggaaggcCgaggggccctcgtgccgcag	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S|CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	282					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGAAGGCCGAGGGGCCCT	0.697																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(844-846)tcG>tcA		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						16	16	16					11																	792041		2191	4291	6482	SO:0001819	synonymous_variant	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792041C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.846G>A	11.37:g.792041C>T						SLC25A22_ENST00000531214.1_Silent_p.S282S	p.S282S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1327	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	282					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000320230.5	37	c.846G>A	CCDS7715.1																																																																																				0.697	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			12	57	0	0	0	1	0	12	57					T	792041	C	T	792041	2	4	79	1	0	0	0	0	0	0	0	1	14535	639	23	1		1	SLC25A22	11	792041	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66238	792041	134214475	11598	21915											
LRDD	55367	broad.mit.edu	37	chr11	804251	804251	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcagcagctgctggcaGcccccggggtacaggtccaa	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:804251G>T	ENST00000347755.5	-	2	279	c.138C>A	c.(136-138)ggC>ggA	p.G46G	PIDD_ENST00000411829.2_Silent_p.G46G|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCTGCTGGCAGCCCCCGGGGT	0.652																																						ENST00000347755.5																			0											c.(136-138)ggC>ggA		p53-induced death domain protein							22	25	24					11																	804251		2200	4294	6494	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804251G>T																												ENST00000347755.5:c.138C>A	11.37:g.804251G>T						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.G46G	p.G46G	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			2	279	-			46						Silent	SNP	ENST00000347755.5	37	c.138C>A	CCDS7716.1																																																																																				0.652	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			61	182	1	0	2.73361e-28	1	3.17826e-28	61	182					T	804251	G	T	804251	2	4	79	1	0	0	0	0	0	0	0	1	8974	958	34	3		3	LRDD	11	804251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12210	804251	134202265	11599	21916											
RPLP2	6181	broad.mit.edu	37	chr11	812603	812603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccccaggctctgcaGcccctgctgctggttctgcc	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S|SNORA52_ENST00000362915.1_RNA	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCTCTGCAGCCCCTGCTGC	0.622																																						ENST00000321153.4																			0				lung(1)	1						c.(241-243)Gcc>Tcc		ribosomal protein, large, P2							44	41	42					11																	812603		2203	4299	6502	SO:0001583	missense	6181				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr11:812603G>T	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"L ribosomal proteins"	10377	protein-coding gene	gene with protein product	"60S acidic ribosomal protein P2", "acidic ribosomal phosphoprotein P2"	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.241G>T	11.37:g.812603G>T	ENSP00000322419:p.Ala81Ser					RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	p.A81S	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	635	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	81					Q6FG96	Missense_Mutation	SNP	ENST00000321153.4	37	c.241G>T	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.733433|2.733433	0.48939|0.48939	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.258634|.	0.36854|.	N|.	0.002380|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.47673|.	0.554|.	T|T	0.73789|0.73789	-0.3872|-0.3872	9|5	0.51188|.	T|.	0.08|.	-13.2689|-13.2689	17.898|17.898	0.88895|0.88895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81|.	P05387|.	RLA2_HUMAN|.	S|H	81|57	.|.	ENSP00000322419:A81S|.	A|Q	+|+	1|3	0|2	RPLP2|RPLP2	802603|802603	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.191000|0.191000	0.23601|0.23601	6.804000|6.804000	0.75186|0.75186	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GCC|CAG		0.622	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	NM_001004		7	176	1	0	1.26484e-09	1	1.33308e-09	7	176					T	812603	G	T	812603	3	4	79	1	0	0	0	0	1	0	0	0	13656	971	34	3	251	3	RPLP2	11	812603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8352	812603	134193913	11600	21917											
CD151	977	broad.mit.edu	37	chr11	837331	837331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgaggctgtgaccagcGctgtggaccagctgcagcag	15	12	0	2	rs560834839	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000397420.3	+	6	682	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000528011.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	145					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0031				Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(433-435)Gct>Act		CD151 molecule (Raph blood group)							64	61	62					11																	837331		2201	4297	6498	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:837331G>A	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"CD molecules", "Blood group antigens", "Tetraspanins"	1630	protein-coding gene	gene with protein product		602243	"CD151 antigen", "CD151 antigen (Raph blood group)"			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.433G>A	11.37:g.837331G>A	ENSP00000380565:p.Ala145Thr					CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000528011.1_Missense_Mutation_p.A145T	p.A145T			P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	682	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	145					A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.433G>A	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782579	0.70222	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.86569	0.1846	10	0.51188	T	0.08	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	145	P48509	CD151_HUMAN	T	145;145;145;120;145;145;145;145;145	ENSP00000380565:A145T;ENSP00000324101:A145T;ENSP00000380566:A145T;ENSP00000432258:A120T;ENSP00000435054:A145T;ENSP00000431403:A145T;ENSP00000436591:A145T;ENSP00000433787:A145T;ENSP00000432990:A145T	ENSP00000324101:A145T	A	+	1	0	CD151	827331	1.000000	0.71417	0.314000	0.25224	0.027000	0.11550	7.288000	0.78691	2.290000	0.77057	0.561000	0.74099	GCT		0.667	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		66	259	0	0	0	1	0	66	259					A	837331	G	A	837331	3	1	79	1	0	0	0	0	1	0	0	0	2974	1087	38	1	447	1	CD151	11	837331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24728	837331	134169185	11601	21918											
TSPAN4	7106	broad.mit.edu	37	chr11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatcaaggagaacaagtgCctcctgctcactgtgagtgc	11	12	2	2	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|RP11-1391J7.1_ENST00000506172.2_RNA|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	81					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(241-243)tgC>tgA		tetraspanin 4							50	48	48					11																	862729		2203	4299	6502	SO:0001587	stop_gained	0				protein complex assembly	integral to plasma membrane		g.chr11:862729C>A	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.243C>A	11.37:g.862729C>A	ENSP00000380553:p.Cys81*					TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*	p.C81*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	502	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	81					Q6IAP6	Nonsense_Mutation	SNP	ENST00000397404.1	37	c.243C>A	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803300	0.90623	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.76	0.32466	.	0.314743	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9629	0.47395	0.0:0.9074:0.0:0.0926	.	.	.	.	X	81;81;17;81;81;17;81;81;17;81;81;100;81	.	ENSP00000324304:C81X	C	+	3	2	TSPAN4	852729	0.989000	0.36119	0.999000	0.59377	0.970000	0.65996	0.340000	0.19892	0.765000	0.33221	0.561000	0.74099	TGC		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			38	167	1	0	3.66082e-28	1	4.25431e-28	38	167					A	862729	C	A	862729	4	1	79	1	0	0	0	0	0	1	0	0	16702	747	26	3	249	3	TSPAN4	11	862729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25398	862729	134143787	11602	21919											
AP2A2	161	broad.mit.edu	37	chr11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtcggatgtttatcttTtatggtaataagacctccac	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	741					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTTATCTTTTATGGTAATA	0.423																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(2221-2223)ttT>ttG		adaptor-related protein complex 2, alpha 2 subunit							216	212	213					11																	1006544		1875	4099	5974	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:1006544T>G	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2223T>G	11.37:g.1006544T>G	ENSP00000413234:p.Phe741Leu					AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	p.F741L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	17	2364	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	741					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.2223T>G	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867997	0.72065	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.35	-0.505	0.11993	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88241	2.94	0.58432	D	0.999999	D;D	0.63880	0.992;0.993	D;D	0.74348	0.971;0.983	T	0.62886	-0.6759	10	0.46703	T	0.11	-9.1951	9.2983	0.37829	0.0:0.5228:0.0:0.4772	.	742;741	O94973-2;O94973	.;AP2A2_HUMAN	L	741;742;478;481	ENSP00000413234:F741L;ENSP00000327694:F742L	ENSP00000327694:F742L	F	+	3	2	AP2A2	996544	0.961000	0.32948	0.999000	0.59377	0.984000	0.73092	0.084000	0.14891	-0.004000	0.14419	0.523000	0.50628	TTT		0.423	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		78	333	0	0	0	1	0	78	333					G	1006544	T	G	1006544	3	3	79	1	0	0	0	0	1	0	0	0	740	1838	64	4	2289	4	AP2A2	11	1006544	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143815	1006544	133999972	11603	21920											
MUC6	4588	broad.mit.edu	37	chr11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagtgtgggggagagtgGccctaatggtagtagaggca	18	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2210	Ser-rich.|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)			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)		GGGGAGAGTGGCCCTAATGGT	0.552																																						ENST00000421673.2																			0				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						c.(6628-6630)gCc>gTc		mucin 6, oligomeric mucus/gel-forming							39	46	44					11																	1016172		2132	4227	6359	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016172G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6629C>T	11.37:g.1016172G>A	ENSP00000406861:p.Ala2210Val						p.A2210V	NM_005961.2	NP_005952.2	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	6679	-		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)	2210			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6629C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023623	0.19433	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	2.6	1.66	0.24008	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.25759	0.063	T	0.25847	-1.0120	9	0.48119	T	0.1	.	7.7325	0.28796	0.1439:0.0:0.8561:0.0	.	2210	Q6W4X9	MUC6_HUMAN	V	2210	ENSP00000406861:A2210V	ENSP00000406861:A2210V	A	-	2	0	MUC6	1006172	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.771000	0.26633	0.372000	0.24591	0.448000	0.29417	GCC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		8	167	0	0	0	1	0	8	167					A	1016172	G	A	1016172	3	1	79	1	0	0	0	0	1	0	0	0	10021	1203	42	2	702	2	MUC6	11	1016172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9628	1016172	133990344	11604	21921											
MUC6	4588	broad.mit.edu	37	chr11	1016635	1016635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtgtgggtggaccCtgtggccttgagcgttgttg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016635C>T	ENST00000421673.2	-	31	6216	c.6166G>A	c.(6166-6168)Ggg>Agg	p.G2056R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2056	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)			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)		TGGGTGGACCCTGTGGCCTTG	0.562																																						ENST00000421673.2																			0				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						c.(6166-6168)Ggg>Agg		mucin 6, oligomeric mucus/gel-forming							416	409	411					11																	1016635		2198	4289	6487	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016635C>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.6166G>A	11.37:g.1016635C>T	ENSP00000406861:p.Gly2056Arg						p.G2056R	NM_005961.2	NP_005952.2	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	6216	-		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)	2056			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6166G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465744	0.26335	.	.	ENSG00000184956	ENST00000421673	T	0.13538	2.58	1.89	-3.77	0.04346	.	.	.	.	.	T	0.06554	0.0168	L	0.31065	0.9	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.13108	T	0.6	.	1.6345	0.02739	0.139:0.3568:0.2942:0.2101	.	2056	Q6W4X9	MUC6_HUMAN	R	2056	ENSP00000406861:G2056R	ENSP00000406861:G2056R	G	-	1	0	MUC6	1006635	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.329000	0.07935	-1.867000	0.01144	0.313000	0.20887	GGG		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		59	2695	0	0	0	1	0	59	2695					T	1016635	C	T	1016635	3	4	79	1	0	0	0	0	1	0	0	0	10021	681	24	2	1165	2	MUC6	11	1016635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	1016635	133989881	11605	21922											
MUC6	4588	broad.mit.edu	37	chr11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccacgtacctgctgcGcgtctcgaagtcgtccttca	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1016	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		TACCTGCTGCGCGTCTCGAAG	0.642																																						ENST00000421673.2																			0				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						c.(3046-3048)Cgc>Tgc		mucin 6, oligomeric mucus/gel-forming							48	54	52					11																	1025023		2127	4221	6348	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025023G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3046C>T	11.37:g.1025023G>A	ENSP00000406861:p.Arg1016Cys						p.R1016C	NM_005961.2	NP_005952.2	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)	24	3096	-		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)	1016			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3046C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717778	0.30413	.	.	ENSG00000184956	ENST00000421673	T	0.60797	0.16	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80014	0.4546	M	0.90309	3.105	0.48830	D	0.999711	D	0.89917	1.0	D	0.87578	0.998	D	0.85651	0.1282	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1016	Q6W4X9	MUC6_HUMAN	C	1016	ENSP00000406861:R1016C	ENSP00000406861:R1016C	R	-	1	0	MUC6	1015023	0.994000	0.37717	0.080000	0.20451	0.096000	0.18686	2.318000	0.43779	2.124000	0.65301	0.561000	0.74099	CGC		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		26	176	0	0	0	1	0	26	176					A	1025023	G	A	1025023	3	1	79	1	0	0	0	0	1	0	0	0	10021	1087	38	1	4313	1	MUC6	11	1025023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8388	1025023	133981493	11606	21923											
MUC6	4588	broad.mit.edu	37	chr11	1028027	1028027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacaccgtgcctgtcctcaGcagcatggagcagtgggtct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028027G>T	ENST00000421673.2	-	15	1836	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	596	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		CCTGTCCTCAGCAGCATGGAG	0.667																																						ENST00000421673.2																			0				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						c.(1786-1788)Ctg>Atg		mucin 6, oligomeric mucus/gel-forming							25	29	28					11																	1028027		2127	4240	6367	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028027G>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.1786C>A	11.37:g.1028027G>T	ENSP00000406861:p.Leu596Met						p.L596M	NM_005961.2	NP_005952.2	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)	15	1836	-		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)	596			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1786C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471627	0.12461	.	.	ENSG00000184956	ENST00000421673	T	0.79141	-1.24	4.93	-0.193	0.13244	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	1.093900	0.07414	U	0.892955	T	0.63295	0.2499	N	0.20610	0.595	0.09310	N	1	B	0.24186	0.099	B	0.24848	0.056	T	0.51865	-0.8651	10	0.38643	T	0.18	.	8.676	0.34179	0.0:0.2892:0.5617:0.1491	.	596	Q6W4X9	MUC6_HUMAN	M	596	ENSP00000406861:L596M	ENSP00000406861:L596M	L	-	1	2	MUC6	1018027	0.000000	0.05858	0.876000	0.34364	0.019000	0.09904	-0.459000	0.06728	0.229000	0.21039	-0.325000	0.08501	CTG		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	42	1	0	2.0095e-06	1	2.07161e-06	7	42					T	1028027	G	T	1028027	3	4	79	1	0	0	0	0	1	0	0	0	10021	962	34	3	5609	3	MUC6	11	1028027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3004	1028027	133978489	11607	21924											
MUC6	4588	broad.mit.edu	37	chr11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaacagtgacataggcCtggaagatggggcgcagctg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	516	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		TGACATAGGCCTGGAAGATGG	0.627																																						ENST00000421673.2																			0				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						c.(1546-1548)caG>caT		mucin 6, oligomeric mucus/gel-forming							36	41	40					11																	1028689		2089	4202	6291	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028689C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1548G>T	11.37:g.1028689C>A	ENSP00000406861:p.Gln516His						p.Q516H	NM_005961.2	NP_005952.2	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)	13	1598	-		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)	516			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1548G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371993	0.24857	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	2.37	0.29283	von Willebrand factor, type D domain (3);	0.000000	0.29987	U	0.010684	T	0.67192	0.2867	L	0.55743	1.74	0.30497	N	0.770732	D	0.89917	1.0	D	0.79784	0.993	T	0.65961	-0.6041	10	0.87932	D	0	.	9.1739	0.37100	0.0:0.8102:0.0:0.1898	.	516	Q6W4X9	MUC6_HUMAN	H	516	ENSP00000406861:Q516H	ENSP00000406861:Q516H	Q	-	3	2	MUC6	1018689	0.040000	0.19996	0.834000	0.33040	0.213000	0.24496	0.097000	0.15168	0.940000	0.37473	0.313000	0.20887	CAG		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	97	1	0	0.0167234	1	0.0167961	14	97					A	1028689	C	A	1028689	3	1	79	1	0	0	0	0	1	0	0	0	10021	680	24	3	5855	3	MUC6	11	1028689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	1028689	133977827	11608	21925											
MUC6	4588	broad.mit.edu	37	chr11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctattgtgacctccCcgggggcatacatggcgccg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	369					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)			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)		TGTGACCTCCCCGGGGGCATA	0.667																																						ENST00000421673.2																			0				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						c.(1105-1107)gGg>gTg		mucin 6, oligomeric mucus/gel-forming							37	44	42					11																	1029525		1959	4122	6081	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029525C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1106G>T	11.37:g.1029525C>A	ENSP00000406861:p.Gly369Val						p.G369V	NM_005961.2	NP_005952.2	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)	9	1156	-		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)	369					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1106G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753864	0.69648	.	.	ENSG00000184956	ENST00000421673	T	0.74421	-0.84	3.84	2.92	0.33932	.	0.000000	0.31257	U	0.007963	D	0.89051	0.6605	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90475	0.4456	10	0.87932	D	0	.	10.9721	0.47444	0.0:0.9048:0.0:0.0952	.	369	Q6W4X9	MUC6_HUMAN	V	369	ENSP00000406861:G369V	ENSP00000406861:G369V	G	-	2	0	MUC6	1019525	0.998000	0.40836	0.267000	0.24556	0.028000	0.11728	6.200000	0.72118	0.920000	0.36970	0.457000	0.33378	GGG		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	143	1	0	2.68362e-12	1	2.87888e-12	12	143					A	1029525	C	A	1029525	3	1	79	1	0	0	0	0	1	0	0	0	10021	623	22	3	6313	3	MUC6	11	1029525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	836	1029525	133976991	11609	21926											
MUC2	4583	broad.mit.edu	37	chr11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggccgctgggtgtgcaaaGacctgccctgccccggcacc	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	384					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1150-1152)Gac>Tac		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						19	24	22					11																	1080508		2053	4179	6232	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080508G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1150G>T	11.37:g.1080508G>T	ENSP00000415183:p.Asp384Tyr					MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1177	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	384					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1150G>T		.	.	.	.	.	.	.	.	.	.	G	13.38	2.221035	0.39201	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	4.25	4.25	0.50352	.	0.471651	0.19231	U	0.119405	T	0.73976	0.3656	M	0.80183	2.485	0.23611	N	0.997291	P	0.38800	0.648	P	0.47786	0.557	T	0.70285	-0.4914	10	0.87932	D	0	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	384	E7EUV1	.	Y	384	ENSP00000415183:D384Y;ENSP00000351956:D384Y	ENSP00000351956:D384Y	D	+	1	0	MUC2	1070508	0.992000	0.36948	0.858000	0.33744	0.944000	0.59088	4.831000	0.62752	2.219000	0.72066	0.491000	0.48974	GAC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		9	62	1	0	0.00621372	1	0.0062537	9	62					T	1080508	G	T	1080508	3	4	79	1	0	0	0	0	1	0	0	0	10016	942	33	3	1184	3	MUC2	11	1080508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50983	1080508	133926008	11610	21927											
MUC2	4583	broad.mit.edu	37	chr11	1086426	1086426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacccgcaccgccgctcCtgggccgagaagcagtgcag	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1045	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3133-3135)tcC>tcT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						18	25	23					11																	1086426		2094	4192	6286	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1086426C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3135C>T	11.37:g.1086426C>T						MUC2_ENST00000359061.5_Silent_p.S1045S	p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3162	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1045			VWFD 3.		Q14878	Silent	SNP	ENST00000441003.2	37	c.3135C>T																																																																																					0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		20	94	0	0	0	1	0	20	94					T	1086426	C	T	1086426	2	4	79	1	0	0	0	0	0	0	0	1	10016	668	24	2		2	MUC2	11	1086426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5918	1086426	133920090	11611	21928											
MUC2	4583	broad.mit.edu	37	chr11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcggggcccctgaggAcatcgagtgcaggtcggtca	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1335					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(4003-4005)gAc>gGc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						91	97	95					11																	1092185		2127	4225	6352	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1092185A>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4004A>G	11.37:g.1092185A>G	ENSP00000415183:p.Asp1335Gly					MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G	p.D1335G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	4031	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1335					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.4004A>G		.	.	.	.	.	.	.	.	.	.	a	10.11	1.261494	0.23051	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.18960	2.4;2.18;2.18	3.03	0.12	0.14691	.	37.455900	0.00839	U	0.001722	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	B	0.28584	0.216	B	0.32289	0.143	T	0.26710	-1.0095	10	0.19147	T	0.46	.	9.2973	0.37824	0.6552:0.3447:0.0:0.0	.	1335	E7EUV1	.	G	1335;1336;1	ENSP00000415183:D1335G;ENSP00000351956:D1336G;ENSP00000354885:D1G	ENSP00000351956:D1336G	D	+	2	0	MUC2	1082185	0.756000	0.28383	0.004000	0.12327	0.108000	0.19459	4.169000	0.58223	0.249000	0.21456	0.382000	0.24955	GAC		0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		25	125	0	0	0	1	0	25	125					G	1092185	A	G	1092185	3	3	79	1	0	0	0	0	1	0	0	0	10016	275	10	4	4122	4	MUC2	11	1092185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5759	1092185	133914331	11612	21929											
MUC2	4583	broad.mit.edu	37	chr11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcatggaggcccccgggGagtgctgtaagaagtgtgaa	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4985					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7867-7869)Gag>Aag		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						52	59	57					11																	1102483		2069	4191	6260	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1102483G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7867G>A	11.37:g.1102483G>A	ENSP00000415183:p.Glu2623Lys						p.E2623K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	45	7894	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4985					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7867G>A		.	.	.	.	.	.	.	.	.	.	G	4.631	0.117264	0.08881	.	.	ENSG00000198788	ENST00000441003	T	0.66815	-0.23	3.78	1.65	0.23941	.	.	.	.	.	T	0.62708	0.2450	M	0.76574	2.34	0.19300	N	0.999975	P	0.47762	0.9	B	0.39419	0.299	T	0.53415	-0.8442	9	0.25751	T	0.34	.	11.85	0.52405	0.0:0.3331:0.6669:0.0	.	2623	E7EUV1	.	K	2623	ENSP00000415183:E2623K	ENSP00000415183:E2623K	E	+	1	0	MUC2	1092483	0.986000	0.35501	0.015000	0.15790	0.025000	0.11179	1.857000	0.39399	0.676000	0.31285	-0.304000	0.09214	GAG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	104	0	0	0	1	0	12	104					A	1102483	G	A	1102483	3	1	79	1	0	0	0	0	1	0	0	0	10016	1175	41	2	8037	2	MUC2	11	1102483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10298	1102483	133904033	11613	21930											
MUC2	4583	broad.mit.edu	37	chr11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtgccaggacaccgTctgcgggctccccaccggca	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5158					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(8386-8388)gTc>gCc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						16	20	19					11																	1104196		1942	4126	6068	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1104196T>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8387T>C	11.37:g.1104196T>C	ENSP00000415183:p.Val2796Ala						p.V2796A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	49	8414	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5158					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.8387T>C		.	.	.	.	.	.	.	.	.	.	T	6.582	0.475700	0.12521	.	.	ENSG00000198788	ENST00000441003	T	0.11169	2.8	3.1	-6.21	0.02065	.	.	.	.	.	T	0.04497	0.0123	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	9	0.08599	T	0.76	.	7.2697	0.26250	0.2047:0.5492:0.0:0.2461	.	2796	E7EUV1	.	A	2796	ENSP00000415183:V2796A	ENSP00000415183:V2796A	V	+	2	0	MUC2	1094196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.973000	0.01500	-1.574000	0.01657	-0.589000	0.04120	GTC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		22	97	0	0	0	1	0	22	97					C	1104196	T	C	1104196	3	2	79	1	0	0	0	0	1	0	0	0	10016	1667	58	4	8573	4	MUC2	11	1104196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1713	1104196	133902320	11614	21931											
MUC5B	727897	broad.mit.edu	37	chr11	1251032	1251032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaacaccacctgcagCtcctggtacttatgagccca	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000529681.1	+	10	1273	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_ENST00000447027.1_Silent_p.S408S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	405					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)				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)		CCACCTGCAGCTCCTGGTACT	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1222-1224)agC>agT		mucin 5B, oligomeric mucus/gel-forming							19	22	21					11																	1251032		2091	4194	6285	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251032C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1215C>T	11.37:g.1251032C>T						MUC5B_ENST00000529681.1_Silent_p.S405S	p.S408S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	10	1282	+		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)	405					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1224C>T	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	55	0	0	0	1	0	10	55					T	1251032	C	T	1251032	2	4	79	1	0	0	0	0	0	0	0	1	10020	796	28	2		2	MUC5B	11	1251032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146836	1251032	133755484	11615	21932											
MUC5B	727897	broad.mit.edu	37	chr11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgagctgcggaagtgcGgcctgacggacaacgagaac	16	10	0	3	rs371537386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000529681.1	+	12	1466	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	470	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)				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)		GCGGAAGTGCGGCCTGACGGA	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1417-1419)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming		G	SER/GLY	1,4257		0,1,2128	44	53	50		1408	4.1	0	11		50	0,8464		0,0,4232	no	missense	MUC5B	NM_002458.2	56	0,1,6360	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging	470/5763	1251768	1,12721	2129	4232	6361	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251768G>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		ENST00000529681.1:c.1408G>A	11.37:g.1251768G>A	ENSP00000436812:p.Gly470Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.G470S	p.G473S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	12	1475	+		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)	470			VWFD 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.1417G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433412	0.25813	2.35E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.73241	0.3562	M	0.83953	2.67	0.40202	D	0.977524	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.831;0.925;0.946	T	0.80484	-0.1362	9	0.87932	D	0	.	15.9972	0.80260	0.0:0.0:1.0:0.0	.	470;1129;473	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	470;473;471;506	ENSP00000436812:G470S;ENSP00000415793:G473S	ENSP00000343037:G471S	G	+	1	0	MUC5B	1208344	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	6.924000	0.75823	1.851000	0.53745	0.305000	0.20034	GGC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		15	97	0	0	0	1	0	15	97					A	1251768	G	A	1251768	3	1	79	1	0	0	0	0	1	0	0	0	10020	1116	39	1	1463	1	MUC5B	11	1251768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	736	1251768	133754748	11616	21933											
MUC5B	727897	broad.mit.edu	37	chr11	1252652	1252652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccccacactcccggcaGccaacatcaccctgttcaca	4	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000529681.1	+	14	1598		c.e14-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						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)				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)		ACTCCCGGCAGCCAACATCAC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.e14-1		mucin 5B, oligomeric mucus/gel-forming							31	35	34					11																	1252652		2044	4201	6245	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1252652G>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		ENST00000529681.1:c.1541-1G>A	11.37:g.1252652G>A						MUC5B_ENST00000529681.1_Splice_Site				Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	14	1607	+		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)						O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	ENST00000529681.1	37		CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673878	0.29693	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1209228	1.000000	0.71417	0.882000	0.34594	0.119000	0.20118	8.723000	0.91458	1.614000	0.50241	0.462000	0.41574	.		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Intron	25	92	0	0	0	1	0	25	92					A	1252652	G	A	1252652	5	1	79	1	0	0	0	0	0	0	1	0	10020	985	34	2	1603	2	MUC5B	11	1252652	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	1252652	133753864	11617	21934											
MUC5B	727897	broad.mit.edu	37	chr11	1254494	1254494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcacgacgagggcgccGtgtggtaagggtctgggggg	22	7	1	0	rs375763678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	ENST00000529681.1	+	18	2375	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V776M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	773					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)				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)		CGAGGGCGCCGTGTGGTAAGG	0.697																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2326-2328)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							6	8	7					11																	1254494		1872	4057	5929	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1254494G>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		ENST00000529681.1:c.2317G>A	11.37:g.1254494G>A	ENSP00000436812:p.Val773Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V773M	p.V776M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	18	2384	+		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)	773					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2326G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197696	0.22037	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22539	1.95;1.95	4.99	-1.4	0.08968	.	.	.	.	.	T	0.14313	0.0346	L	0.39397	1.21	0.09310	N	1	P;D;D	0.54047	0.487;0.964;0.964	B;B;B	0.39660	0.015;0.306;0.306	T	0.19745	-1.0296	9	0.87932	D	0	.	6.3433	0.21335	0.427:0.1201:0.4529:0.0	.	773;1432;776	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	773;776;774;809	ENSP00000436812:V773M;ENSP00000415793:V776M	ENSP00000343037:V774M	V	+	1	0	MUC5B	1211070	0.036000	0.19791	0.059000	0.19551	0.001000	0.01503	0.405000	0.21015	-0.063000	0.13065	-0.373000	0.07131	GTG		0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	37	0	0	0	1	0	13	37					A	1254494	G	A	1254494	3	1	79	1	0	0	0	0	1	0	0	0	10020	1145	40	1	2396	1	MUC5B	11	1254494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	1254494	133752022	11618	21935											
MUC5B	727897	broad.mit.edu	37	chr11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A													cagcccccatggtgtacctgGactgcagcaacagctcggcg					rs554418515	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000529681.1	+	20	2462	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	802					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)				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)		GGTGTACCTGGACTGCAGCAA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2413-2415)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							16	18	17					11																	1255461		1972	4134	6106	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255461G>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		ENST00000529681.1:c.2404G>A	11.37:g.1255461G>A	ENSP00000436812:p.Asp802Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.D802N	p.D805N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2471	+		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)	802			TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2413G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282631	0.23392	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.35	4.21	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.18882	0.0453	L	0.37507	1.11	0.31973	N	0.606944	B;P;P	0.42357	0.077;0.777;0.777	B;B;B	0.42738	0.136;0.396;0.396	T	0.09079	-1.0691	9	0.87932	D	0	.	15.1372	0.72576	0.0779:0.0:0.9221:0.0	.	802;1461;805	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	802;805;803;838	ENSP00000436812:D802N;ENSP00000415793:D805N	ENSP00000343037:D803N	D	+	1	0	MUC5B	1212037	0.995000	0.38212	0.873000	0.34254	0.350000	0.29205	2.155000	0.42301	0.431000	0.26258	-1.634000	0.00779	GAC		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	53	0	0	0	1	0	13	53					A	1255461	G	A	1255461	3	1	79	1	0	0	0	0	1	0	0	0	10020	1174	41	2	2491	2	MUC5B	11	1255461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	967	1255461	133751055	11619	21936	137	2									
MUC5B	727897	broad.mit.edu	37	chr11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T													ccccatggtgtacctggactGcagcaacagctcggcgggca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000529681.1	+	20	2466	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	803					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)				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)		TACCTGGACTGCAGCAACAGC	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2416-2418)tGc>tTc		mucin 5B, oligomeric mucus/gel-forming							16	18	17					11																	1255465		1972	4137	6109	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255465G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2408G>T	11.37:g.1255465G>T	ENSP00000436812:p.Cys803Phe					MUC5B_ENST00000529681.1_Missense_Mutation_p.C803F	p.C806F			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2475	+		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)	803			TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2417G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.87	1.768045	0.31320	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.98264	-4.83;-4.83	4.21	4.21	0.49690	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	D	0.99351	0.9772	H	0.97540	4.025	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.98376	1.0556	9	0.87932	D	0	.	16.7386	0.85454	0.0:0.0:1.0:0.0	.	803;1462;806	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	F	803;806;804;839	ENSP00000436812:C803F;ENSP00000415793:C806F	ENSP00000343037:C804F	C	+	2	0	MUC5B	1212041	1.000000	0.71417	0.927000	0.36925	0.356000	0.29392	6.844000	0.75390	2.180000	0.69256	0.457000	0.33378	TGC		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	54	1	0	3.35478e-16	1	3.68056e-16	13	54					T	1255465	G	T	1255465	3	4	79	1	0	0	0	0	1	0	0	0	10020	1319	46	3	2495	3	MUC5B	11	1255465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	1255465	133751051	11620	21937	137	2									
MUC5B	727897	broad.mit.edu	37	chr11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgtgcgggaacttcgacGacaatgccatcaatgacttt	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000529681.1	+	25	3149	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1031	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)				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)		GAACTTCGACGACAATGCCAT	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(3100-3102)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							29	38	35					11																	1258188		2133	4228	6361	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1258188G>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		ENST00000529681.1:c.3091G>A	11.37:g.1258188G>A	ENSP00000436812:p.Asp1031Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.D1031N	p.D1034N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	25	3158	+		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)	1031			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3100G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.57595	0.39;0.39	4.38	3.47	0.39725	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.42988	0.1227	L	0.41710	1.295	0.32694	N	0.513784	P;B;P	0.46142	0.873;0.26;0.5	B;B;B	0.38296	0.27;0.057;0.155	T	0.57734	-0.7760	9	0.87932	D	0	.	12.4879	0.55883	0.0825:0.0:0.9175:0.0	.	1031;1724;1034	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	1031;1034;1032;1101	ENSP00000436812:D1031N;ENSP00000415793:D1034N	ENSP00000343037:D1032N	D	+	1	0	MUC5B	1214764	1.000000	0.71417	0.805000	0.32314	0.093000	0.18481	4.749000	0.62155	0.834000	0.34852	-0.368000	0.07277	GAC		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	57	0	0	0	1	0	17	57					A	1258188	G	A	1258188	3	1	79	1	0	0	0	0	1	0	0	0	10020	1058	37	1	3198	1	MUC5B	11	1258188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2723	1258188	133748328	11621	21938											
MUC5B	727897	broad.mit.edu	37	chr11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccagctggtacaatgGgcaccgcccagagcccggcc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000529681.1	+	31	4095	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1346	7 X Cys-rich subdomain repeats.				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)				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)		TGGTACAATGGGCACCGCCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4045-4047)gGg>gTg		mucin 5B, oligomeric mucus/gel-forming							25	29	28					11																	1262147		1979	4156	6135	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262147G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4037G>T	11.37:g.1262147G>T	ENSP00000436812:p.Gly1346Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.G1346V	p.G1349V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4104	+		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)	1346			7 X Cys-rich subdomain repeats.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4046G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616679	0.14129	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	3.62	0.494	0.16884	.	.	.	.	.	T	0.07007	0.0178	N	0.04090	-0.28	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.30251	0.103;0.113	T	0.32268	-0.9913	9	0.87932	D	0	.	3.0683	0.06221	0.09:0.1427:0.3309:0.4364	.	2039;1349	A7Y9J9;E9PBJ0	.;.	V	1346;1349;1347;1416	ENSP00000436812:G1346V;ENSP00000415793:G1349V	ENSP00000343037:G1347V	G	+	2	0	MUC5B	1218723	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.920000	0.01571	-0.086000	0.12550	0.313000	0.20887	GGG		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		18	184	1	0	5.35267e-07	1	5.54261e-07	18	184					T	1262147	G	T	1262147	3	4	79	1	0	0	0	0	1	0	0	0	10020	1232	43	3	4168	3	MUC5B	11	1262147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3959	1262147	133744369	11622	21939											
MUC5B	727897	broad.mit.edu	37	chr11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaaagagcatagagtgCcgggcggagaactaccccga	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000529681.1	+	31	5548	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1830	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		GCATAGAGTGCCGGGCGGAGA	0.597																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5497-5499)tgC>tgA		mucin 5B, oligomeric mucus/gel-forming							53	65	61					11																	1263600		2071	4203	6274	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263600C>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		ENST00000529681.1:c.5490C>A	11.37:g.1263600C>A	ENSP00000436812:p.Cys1830*					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1830*	p.C1833*			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5557	+		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)	1830			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.5499C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	42	9.487211	0.99184	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-0.141	0.13452	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4732	0.44648	0.0:0.6651:0.0:0.3349	.	.	.	.	X	1830;1833;1831;1900	.	ENSP00000343037:C1831X	C	+	3	2	MUC5B	1220176	0.000000	0.05858	0.670000	0.29842	0.106000	0.19336	-0.806000	0.04525	0.072000	0.16694	-0.674000	0.03794	TGC		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		58	250	1	0	2.69953e-25	1	3.09604e-25	58	250					A	1263600	C	A	1263600	4	1	79	1	0	0	0	0	0	1	0	0	10020	747	26	3	5621	3	MUC5B	11	1263600	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1453	1263600	133742916	11623	21940											
MUC5B	727897	broad.mit.edu	37	chr11	1264986	1264986	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccagcaagacccgCacctcgaccctgctgcccag	8	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000529681.1	+	31	6934	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.R2295R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		GCAAGACCCGCACCTCGACCC	0.682																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6883-6885)cgC>cgA		mucin 5B, oligomeric mucus/gel-forming							57	87	77					11																	1264986		2090	4200	6290	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264986C>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		ENST00000529681.1:c.6876C>A	11.37:g.1264986C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.R2292R	p.R2295R			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6943	+		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)	2292			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6885C>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		86	1049	1	0	5.04879e-28	1	5.86081e-28	86	1049					A	1264986	C	A	1264986	2	1	79	1	0	0	0	0	0	0	0	1	10020	697	25	3		3	MUC5B	11	1264986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1386	1264986	133741530	11624	21941											
MUC5B	727897	broad.mit.edu	37	chr11	1265997	1265997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagggacggcacgcacGcttccagtgtggatcagcac	13	14	1	0	rs551355085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2632T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(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)		CGGCACGCACGCTTCCAGTGT	0.637																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.T2608T(1)|p.T2629T(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7894-7896)acG>acA		mucin 5B, oligomeric mucus/gel-forming							147	178	168					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265997G>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		ENST00000529681.1:c.7887G>A	11.37:g.1265997G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2629T	p.T2632T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7954	+		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)	2629	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7896G>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		90	374	0	0	0	1	0	90	374					A	1265997	G	A	1265997	2	1	79	1	0	0	0	0	0	0	0	1	10020	1074	38	1		1	MUC5B	11	1265997	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1011	1265997	133740519	11625	21942											
MUC5B	727897	broad.mit.edu	37	chr11	1266175	1266175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccagtggtactcccccaTcactgaccaccacggccact	7	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1266175T>C	ENST00000529681.1	+	31	8123	c.8065T>C	c.(8065-8067)Tca>Cca	p.S2689P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S2692P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2689	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		TACTcccccatcactgaccac	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8074-8076)Tca>Cca		mucin 5B, oligomeric mucus/gel-forming							24	31	29					11																	1266175		1758	3906	5664	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266175T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8065T>C	11.37:g.1266175T>C	ENSP00000436812:p.Ser2689Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S2689P	p.S2692P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8132	+		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)	2689	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8074T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.899145	0.00517	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21031	2.03;2.22	2.0	-3.99	0.04069	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	9	0.87932	D	0	.	2.3821	0.04357	0.1005:0.338:0.2342:0.3273	.	2692	E9PBJ0	.	P	2689;2692;2661	ENSP00000436812:S2689P;ENSP00000415793:S2692P	ENSP00000343037:S2661P	S	+	1	0	MUC5B	1222751	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.299000	0.00257	-4.729000	0.00034	-3.193000	0.00055	TCA		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	38	0	0	0	1	0	5	38					C	1266175	T	C	1266175	3	2	79	1	0	0	0	0	1	0	0	0	10020	1435	50	4	8196	4	MUC5B	11	1266175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178	1266175	133740341	11626	21943											
MUC5B	727897	broad.mit.edu	37	chr11	1267146	1267146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatccacggccatcccGtcctccaccccgggaacagc	9	19	0	0	rs563936822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3015P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		16823	0.0		0.003	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9043-9045)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							139	168	158					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267146G>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		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3012P	p.P3015P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9103	+		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)	3012	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9045G>A	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		175	726	0	0	0	1	0	175	726					A	1267146	G	A	1267146	2	1	79	1	0	0	0	0	0	0	0	1	10020	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	1267146	133739370	11627	21944											
MUC5B	727897	broad.mit.edu	37	chr11	1270821	1270821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccggccaccagctctacGgccatgccctcctccactcc	6	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	ENST00000529681.1	+	31	12769	c.12711G>A	c.(12709-12711)acG>acA	p.T4237T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4240T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4237	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)				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)		CCAGCTCTACGGCCATGCCCT	0.607																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12718-12720)acG>acA		mucin 5B, oligomeric mucus/gel-forming							52	58	56					11																	1270821		1869	4061	5930	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270821G>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		ENST00000529681.1:c.12711G>A	11.37:g.1270821G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T4237T	p.T4240T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12778	+		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)	4237			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12720G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.339	-0.351471	0.05173	.	.	ENSG00000117983	ENST00000535652	.	.	.	2.04	-0.63	0.11530	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.11182	T	0.66	.	5.9617	0.19303	0.1572:0.2557:0.587:0.0	.	.	.	.	Q	17	.	ENSP00000439776:R17Q	R	+	2	0	MUC5B	1227397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.433000	0.02428	0.114000	0.18032	0.393000	0.25936	CGG		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		137	632	0	0	0	1	0	137	632					A	1270821	G	A	1270821	2	1	79	1	0	0	0	0	0	0	0	1	10020	1103	39	1		1	MUC5B	11	1270821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3675	1270821	133735695	11628	21945											
MUC5B	727897	broad.mit.edu	37	chr11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaccctgtggaccaCgtggaccgtcccagcacaga	9	18	0	1	rs190661408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000529681.1	+	31	14340	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4761	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.T4716M(1)|p.T4761M(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)		CTGTGGACCACGTGGACCGTC	0.582																																						ENST00000447027.1																			2	Substitution - Missense(2)	p.T4716M(1)|p.T4761M(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14290-14292)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	2,4342		0,2,2170	168	192	184		14282	-3.7	0	11		184	0,8500		0,0,4250	no	missense	MUC5B	NM_002458.2	81	0,2,6420	TT,TC,CC		0.0,0.046,0.0156		4761/5763	1272392	2,12842	2172	4250	6422	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272392C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14282C>T	11.37:g.1272392C>T	ENSP00000436812:p.Thr4761Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.T4761M	p.T4764M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14349	+		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)	4761			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14291C>T	CCDS44515.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	3.663|3.663	-0.069163|-0.069163	0.07228|0.07228	4.6E-4|4.6E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637	.|T;T	.|0.23552	.|1.9;2.08	1.83|1.83	-3.67|-3.67	0.04476|0.04476	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P	.|0.38250	.|0.624	.|B	.|0.28139	.|0.086	T|T	0.08351|0.08351	-1.0726|-1.0726	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0104|5.0104	0.14310|0.14310	0.4155:0.4485:0.0:0.136|0.4155:0.4485:0.0:0.136	.|.	.|4764	.|E9PBJ0	.|.	C|M	533|4761;4764;4705	.|ENSP00000436812:T4761M;ENSP00000415793:T4764M	ENSP00000439776:R533C|ENSP00000343037:T4705M	R|T	+|+	1|2	0|0	MUC5B|MUC5B	1228968|1228968	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-0.953000|-0.953000	0.03645|0.03645	0.194000|0.194000	0.17425|0.17425	CGT|ACG		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		102	439	0	0	0	1	0	102	439					T	1272392	C	T	1272392	3	4	79	1	0	0	0	0	1	0	0	0	10020	536	19	1	14413	1	MUC5B	11	1272392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1571	1272392	133734124	11629	21946											
MUC5B	727897	broad.mit.edu	37	chr11	1275968	1275968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcggtttcagcaagaaCggcgtgcttgtgtctgtgct	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000529681.1	+	35	15580	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N	MUC5B_ENST00000447027.1_Silent_p.N5177N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5174	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)				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)		TCAGCAAGAACGGCGTGCTTG	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15529-15531)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming							72	75	74					11																	1275968		2131	4240	6371	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275968C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15522C>T	11.37:g.1275968C>T						MUC5B_ENST00000529681.1_Silent_p.N5174N	p.N5177N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	35	15589	+		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)	5174			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15531C>T	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		33	147	0	0	0	1	0	33	147					T	1275968	C	T	1275968	2	4	79	1	0	0	0	0	0	0	0	1	10020	535	19	1		1	MUC5B	11	1275968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3576	1275968	133730548	11630	21947											
MUC5B	727897	broad.mit.edu	37	chr11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgtgttcgtacaatgGcaccttctacggggtaaggg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000529681.1	+	43	16638	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				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)		TCGTACAATGGCACCTTCTAC	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16588-16590)gGc>gTc		mucin 5B, oligomeric mucus/gel-forming							50	58	55					11																	1279584		2072	4194	6266	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279584G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16580G>T	11.37:g.1279584G>T	ENSP00000436812:p.Gly5527Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527V	p.G5530V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	43	16647	+		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)	5527			VWFC 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16589G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727900	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	1.72	0.24424	.	.	.	.	.	T	0.78966	0.4367	M	0.61703	1.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64144	0.922;0.922	T	0.65335	-0.6193	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	V	5527;5530;5471;426;5239;72	ENSP00000436812:G5527V;ENSP00000415793:G5530V;ENSP00000434539:G72V	ENSP00000343037:G5471V	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	90	1	0	3.99206e-14	1	4.32713e-14	17	90					T	1279584	G	T	1279584	3	4	79	1	0	0	0	0	1	0	0	0	10020	1203	42	3	16759	3	MUC5B	11	1279584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	1279584	133726932	11631	21948											
MOB2	81532	broad.mit.edu	37	chr11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaactcccgagcaaagaGgatgaagtggacgtagagcg	15	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	184					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CGAGCAAAGAGGATGAAGTGG	0.617																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(643-645)Ctc>Ttc		MOB kinase activator 2							130	141	137					11																	1491566		2121	4222	6343	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491566G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.643C>T	11.37:g.1491566G>A	ENSP00000328694:p.Leu215Phe					MOB2_ENST00000526462.1_5'UTR	p.L215F	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			5	832	-			184					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.643C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563149	0.45694	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	3.24	0.37175	.	0.160384	0.40908	D	0.000991	T	0.58821	0.2149	L	0.48174	1.505	0.41982	D	0.990809	P;P	0.49090	0.919;0.72	P;P	0.55749	0.783;0.619	T	0.52801	-0.8527	9	0.12103	T	0.63	-39.9522	12.2761	0.54735	0.0845:0.0:0.9155:0.0	.	215;184	E9PDA5;Q70IA6	.;MOB2_HUMAN	F	215	.	ENSP00000328694:L215F	L	-	1	0	AC091196.1	1448142	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.756000	0.55205	2.176000	0.68965	0.563000	0.77884	CTC		0.617	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		101	467	0	0	0	1	0	101	467					A	1491566	G	A	1491566	3	1	79	1	0	0	0	0	1	0	0	0	9722	1000	35	2	167	2	MOB2	11	1491566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211982	1491566	133514950	11632	21949											
MOB2	81532	broad.mit.edu	37	chr11	1492597	1492597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacgaagtcaacgtactGtggggccgtgcacttgacct	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1492597G>A	ENST00000329957.6	-	4	607	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	109					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TCAACGTACTGTGGGGCCGTG	0.597																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(418-420)Cag>Tag		MOB kinase activator 2							110	126	121					11																	1492597		2166	4249	6415	SO:0001587	stop_gained	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1492597G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.418C>T	11.37:g.1492597G>A	ENSP00000328694:p.Gln140*					MOB2_ENST00000526462.1_5'UTR	p.Q140*	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			4	607	-			109					B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	c.418C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297330	0.95574	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.34	3.39	0.38822	.	0.071849	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.0121	12.7035	0.57046	0.0823:0.0:0.9177:0.0	.	.	.	.	X	140	.	ENSP00000328694:Q140X	Q	-	1	0	AC091196.1	1449173	1.000000	0.71417	0.952000	0.39060	0.752000	0.42762	6.065000	0.71176	2.250000	0.74265	0.462000	0.41574	CAG		0.597	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		10	243	0	0	0	1	0	10	243					A	1492597	G	A	1492597	4	1	79	1	0	0	0	0	0	1	0	0	9722	1386	48	2	396	2	MOB2	11	1492597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	1492597	133513919	11633	21950											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606276	1606276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccagaagagccacaGccccctttgccacagctgga	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	68	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(202-204)ggC>ggT		keratin associated protein 5-1							77	94	89					11																	1606276		2201	4299	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606276G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.204C>T	11.37:g.1606276G>A						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G68G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	237	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.204C>T	CCDS31330.1																																																																																				0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		211	1011	0	0	0	1	0	211	1011					A	1606276	G	A	1606276	2	1	79	1	0	0	0	0	0	0	0	1	8589	958	34	2		2	KRTAP5-1	11	1606276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113679	1606276	133400240	11634	21951											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629124	1629124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctggactgggaacaGcagggcttacagcagctgga	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	164	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(490-492)tgC>tgT		keratin associated protein 5-3							141	149	146					11																	1629124		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629124G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.492C>T	11.37:g.1629124G>A							p.C164C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	569	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	164			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.492C>T	CCDS41591.1																																																																																				0.622	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			303	1381	0	0	0	1	0	303	1381					A	1629124	G	A	1629124	2	1	79	1	0	0	0	0	0	0	0	1	8593	963	34	2		2	KRTAP5-3	11	1629124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22848	1629124	133377392	11635	21952											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718508	1718508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctctggaggctgtggCtccggctgtgggggctgtgg	21	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718508C>T	ENST00000382160.1	+	1	84	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	11						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGGCTGTGGCTCCGGCTGTG	0.647																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(31-33)ggC>ggT		keratin associated protein 5-6							63	82	75					11																	1718508		2202	4296	6498	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718508C>T	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.33C>T	11.37:g.1718508C>T							p.G11G	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	84	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	11					A1L452	Silent	SNP	ENST00000382160.1	37	c.33C>T	CCDS31332.1																																																																																				0.647	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			17	1162	0	0	0	1	0	17	1162					T	1718508	C	T	1718508	2	4	79	1	0	0	0	0	0	0	0	1	8596	784	28	2		2	KRTAP5-6	11	1718508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89384	1718508	133288008	11636	21953											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718682	1718682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggctccaaagggggCtgtggctcttgtgggggctc	20	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	69	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAAAGGGGGCTGTGGCTCTT	0.637																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(205-207)ggC>ggA		keratin associated protein 5-6							82	104	97					11																	1718682		2202	4299	6501	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718682C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.207C>A	11.37:g.1718682C>A							p.G69G	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	258	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	69			6 X 4 AA repeats of C-C-X-P.		A1L452	Silent	SNP	ENST00000382160.1	37	c.207C>A	CCDS31332.1																																																																																				0.637	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			125	1156	1	0	1.01459e-35	1	1.21254e-35	125	1156					A	1718682	C	A	1718682	2	1	79	1	0	0	0	0	0	0	0	1	8596	784	28	3		3	KRTAP5-6	11	1718682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	1718682	133287834	11637	21954											
CTSD	1509	broad.mit.edu	37	chr11	1778668	1778668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggccatgcccaggatgCcatcgaacttggctgcgatg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1778668C>T	ENST00000236671.2	-	5	722	c.590G>A	c.(589-591)gGc>gAc	p.G197D	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A68T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	197					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCCAGGATGCCATCGAACTT	0.602																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(589-591)gGc>gAc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						217	141	167					11																	1778668		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1778668C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.590G>A	11.37:g.1778668C>T	ENSP00000236671:p.Gly197Asp					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A68T	p.G197D	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	5	722	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	197					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.590G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.0|29.0	4.969388|4.969388	0.92855|0.92855	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213;ENST00000367196	.|D;D;D	.|0.88201	.|-2.35;-2.06;-2.29	4.11|4.11	4.11|4.11	0.48088|0.48088	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.108221	.|0.64402	.|D	.|0.000006	D|D	0.97445|0.97445	0.9164|0.9164	H|H	0.99916|0.99916	4.945|4.945	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99636|0.99636	1.0987|1.0987	5|10	.|0.87932	.|D	.|0	.|.	16.5345|16.5345	0.84369|0.84369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197	.|P07339	.|CATD_HUMAN	T|D	68|197;182;162	.|ENSP00000236671:G197D;ENSP00000415036:G182D;ENSP00000356164:G162D	.|ENSP00000236671:G197D	A|G	-|-	1|2	0|0	RP11-295K3.1|CTSD	1735244|1735244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.758000|6.758000	0.74929|0.74929	2.129000|2.129000	0.65627|0.65627	0.472000|0.472000	0.43445|0.43445	GCA|GGC		0.602	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		32	143	0	0	0	1	0	32	143					T	1778668	C	T	1778668	3	4	79	1	0	0	0	0	1	0	0	0	4043	739	26	2	668	2	CTSD	11	1778668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59986	1778668	133227848	11638	21955											
SYT8	90019	broad.mit.edu	37	chr11	1856331	1856331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttccaaaccagcagggtaGaaagatggggcacccaccag	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1856331G>A	ENST00000381968.3	+	2	166	c.38G>A	c.(37-39)aGa>aAa	p.R13K	SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000535046.1_Missense_Mutation_p.R151K	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	13					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCAGGGTAGAAAGATGGGG	0.662																																						ENST00000535046.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(451-453)aGa>aAa		synaptotagmin VIII							35	42	40					11																	1856331		2202	4299	6501	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856331G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.38G>A	11.37:g.1856331G>A	ENSP00000371394:p.Arg13Lys					SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.R13K|SYT8_ENST00000341958.3_5'UTR	p.R151K			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	452	+		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)	13			C2 1.		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.452G>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	0.664	-0.804557	0.02819	.	.	ENSG00000149043	ENST00000535046;ENST00000381968	T;T	0.19105	2.17;2.99	2.81	-1.95	0.07548	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.36529	-0.9744	9	0.06236	T	0.91	.	0.5351	0.00635	0.4009:0.181:0.2354:0.1826	.	13	Q8NBV8	SYT8_HUMAN	K	151;13	ENSP00000443325:R151K;ENSP00000371394:R13K	ENSP00000371394:R13K	R	+	2	0	SYT8	1812907	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.184000	0.03076	-0.417000	0.07461	0.305000	0.20034	AGA		0.662	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			6	305	0	0	0	1	0	6	305					A	1856331	G	A	1856331	3	1	79	1	0	0	0	0	1	0	0	0	15532	942	33	2	44	2	SYT8	11	1856331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77663	1856331	133150185	11639	21956											
SYT8	90019	broad.mit.edu	37	chr11	1858551	1858551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagacatgctggcccacGcccggcggcccattgcccag	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1858551G>A	ENST00000381968.3	+	9	1224	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.A352T|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000535046.1_3'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	366					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGCCCACGCCCGGCGGCC	0.756																																						ENST00000341958.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(1054-1056)Gcc>Acc		synaptotagmin VIII							12	14	14					11																	1858551		2161	4205	6366	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1858551G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1096G>A	11.37:g.1858551G>A	ENSP00000371394:p.Ala366Thr					SYT8_ENST00000381968.3_Missense_Mutation_p.A366T|SYT8_ENST00000535046.1_3'UTR	p.A352T			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	8	1356	+		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)	366					A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.1054G>A	CCDS7726.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.74|19.74	3.883746|3.883746	0.72410|0.72410	.|.	.|.	ENSG00000149043|ENSG00000149043	ENST00000381968;ENST00000341958|ENST00000381978	T;T|.	0.07688|.	3.17;3.17|.	3.85|3.85	-0.83|-0.83	0.10792|0.10792	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|.	.|.	.|.	.|.	T|T	0.67258|0.67258	0.2874|0.2874	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	P;D|.	0.63046|.	0.955;0.992|.	B;P|.	0.45712|.	0.223;0.491|.	T|T	0.66035|0.66035	-0.6023|-0.6023	9|5	0.87932|.	D|.	0|.	.|.	19.2976|19.2976	0.94129|0.94129	0.0:0.7222:0.2778:0.0|0.0:0.7222:0.2778:0.0	.|.	366;352|.	Q8NBV8;A6NCR4|.	SYT8_HUMAN;.|.	T|H	366;352|364	ENSP00000371394:A366T;ENSP00000343691:A352T|.	ENSP00000343691:A352T|.	A|R	+|+	1|2	0|0	SYT8|SYT8	1815127|1815127	0.020000|0.020000	0.18652|0.18652	0.673000|0.673000	0.29887|0.29887	0.775000|0.775000	0.43874|0.43874	0.288000|0.288000	0.18939|0.18939	-0.234000|-0.234000	0.09782|0.09782	0.436000|0.436000	0.28706|0.28706	GCC|CGC		0.756	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			6	164	0	0	0	1	0	6	164					A	1858551	G	A	1858551	3	1	79	1	0	0	0	0	1	0	0	0	15532	1087	38	1	1130	1	SYT8	11	1858551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2220	1858551	133147965	11640	21957											
TNNI2	7136	broad.mit.edu	37	chr11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgcaaacagctgcacGccaagatcgatgcggctgaa	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	70					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCTGCACGCCAAGATCGA	0.677																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(208-210)Gcc>Acc		troponin I type 2 (skeletal, fast)							62	52	56					11																	1862070		2199	4297	6496	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862070G>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2"	191043	"troponin I, skeletal, fast", "arthrogryposis multiplex congenita, distal, type 2B"	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.208G>A	11.37:g.1862070G>A	ENSP00000371331:p.Ala70Thr					TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T	p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	277	+		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)	70					A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.208G>A	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585488	0.28268	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	2.67	2.67	0.31697	.	0.393040	0.28176	N	0.016318	D	0.94535	0.8240	M	0.62016	1.91	0.36625	D	0.875959	D;P	0.76494	0.999;0.858	D;B	0.75484	0.986;0.107	D	0.95585	0.8650	10	0.48119	T	0.1	-2.6848	14.4828	0.67594	0.0:0.0:1.0:0.0	.	70;70	A6NIV8;P48788	.;TNNI2_HUMAN	T	70	ENSP00000371336:A70T;ENSP00000371331:A70T;ENSP00000252898:A70T;ENSP00000371330:A70T	ENSP00000252898:A70T	A	+	1	0	TNNI2	1818646	0.010000	0.17322	0.999000	0.59377	0.339000	0.28857	0.353000	0.20130	1.812000	0.52913	0.205000	0.17691	GCC		0.677	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		6	116	0	0	0	1	0	6	116					A	1862070	G	A	1862070	3	1	79	1	0	0	0	0	1	0	0	0	16379	1087	38	1	241	1	TNNI2	11	1862070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3519	1862070	133144446	11641	21958											
TNNI2	7136	broad.mit.edu	37	chr11	1862727	1862727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgactggaggaagaacatCgaggagaagtctggcatgga	17	5	1	3	rs199474800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	165					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(493-495)atC>atT		troponin I type 2 (skeletal, fast)							231	188	203					11																	1862727		2202	4299	6501	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862727C>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2"	191043	"troponin I, skeletal, fast", "arthrogryposis multiplex congenita, distal, type 2B"	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.495C>T	11.37:g.1862727C>T						TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000252898.7_Silent_p.I165I	p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	8	564	+		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)	165					A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.495C>T	CCDS31333.1																																																																																				0.642	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		65	289	0	0	0	1	0	65	289					T	1862727	C	T	1862727	2	4	79	1	0	0	0	0	0	0	0	1	16379	874	31	1		1	TNNI2	11	1862727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657	1862727	133143789	11642	21959											
LSP1	4046	broad.mit.edu	37	chr11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgtccacgagcaatgccaGcatgagagagacaggcagct	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000311604.3	+	2	286	c.111G>T	c.(109-111)caG>caT	p.Q37H	LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.Q165H	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	37					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657																																						ENST00000381775.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(493-495)caG>caT		lymphocyte-specific protein 1							79	63	68					11																	1901374		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1901374G>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.111G>T	11.37:g.1901374G>T	ENSP00000308383:p.Gln37His					LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.Q37H|LSP1_ENST00000406638.2_5'UTR	p.Q165H	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	3	603	+		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)	37					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.495G>T	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.400235	0.42613	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.49139	1.86;1.79;1.86;1.4;0.79	3.24	-0.0138	0.13982	.	0.367615	0.15648	U	0.251555	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.28512	0.214;0.07	B;B	0.22753	0.041;0.025	T	0.14392	-1.0474	10	0.51188	T	0.08	-12.2831	4.5777	0.12241	0.237:0.183:0.58:0.0	.	165;37	E9PFP3;P33241	.;LSP1_HUMAN	H	37;165;28;20;55	ENSP00000308383:Q37H;ENSP00000371194:Q165H;ENSP00000400346:Q28H;ENSP00000400999:Q20H;ENSP00000403460:Q55H	ENSP00000308383:Q37H	Q	+	3	2	LSP1	1857950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.097000	0.12307	0.491000	0.48974	CAG		0.657	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		43	187	1	0	2.26627e-22	1	2.56399e-22	43	187					T	1901374	G	T	1901374	3	4	79	1	0	0	0	0	1	0	0	0	9101	962	34	3	117	3	LSP1	11	1901374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38647	1901374	133105142	11643	21960											
LSP1	4046	broad.mit.edu	37	chr11	1904667	1904667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccggcctgcatgcctaCgaaaaggaggacagtgatga	14	10	0	2	rs577198149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000311604.3	+	4	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_ENST00000406638.2_Silent_p.Y63Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20638	0.001		0.0	False		,,,				2504	0.0					ENST00000406638.2																			2	Substitution - coding silent(2)	p.Y63Y(1)|p.Y125Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(187-189)taC>taT		lymphocyte-specific protein 1							79	80	80					11																	1904667		2202	4299	6501	SO:0001819	synonymous_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1904667C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.375C>T	11.37:g.1904667C>T						LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000485341.1_3'UTR	p.Y63Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	4	1491	+		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)	125					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	37	c.189C>T	CCDS31334.1																																																																																				0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		61	324	0	0	0	1	0	61	324					T	1904667	C	T	1904667	2	4	79	1	0	0	0	0	0	0	0	1	9101	547	19	1		1	LSP1	11	1904667	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	1904667	133101849	11644	21961											
LSP1	4046	broad.mit.edu	37	chr11	1905554	1905557	+	Splice_Site	DEL	GTCT	GTCT	-													aaccgctccatagagaagagGtctgtctgtctgtctgtctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1905554_1905557delGTCT	ENST00000311604.3	+	6	810		c.e6+1		LSP1_ENST00000406638.2_Splice_Site|LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TAGAGAAGAGgtctgtctgtctgt	0.569																																						ENST00000406638.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.e6+1		lymphocyte-specific protein 1			,,,	3,4255		0,3,2126					,,,	3.1	0.7			63	16,8228		0,16,4106	no	splice-5,splice-5,splice-5,splice-5	LSP1	NM_002339.2,NM_001013255.1,NM_001013254.1,NM_001013253.1	,,,	0,19,6232	A1A1,A1R,RR		0.1941,0.0705,0.152	,,,	,,,		19,12483				SO:0001630	splice_region_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1905554_1905557delGTCT	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.635+1GTCT>-	11.37:g.1905562_1905565delGTCT						LSP1_ENST00000311604.3_Splice_Site|LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site		NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	6	1751	+		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)						B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Splice_Site	DEL	ENST00000311604.3	37		CCDS31334.1																																																																																				0.569	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339	Intron	7	327						7	327	---	---	---	---	-	1905557	GTCT	-	1905554	8	5	79	1	0	1	0	1	0	0	1	0	9101	1275	44	0	658	0	LSP1	11	1905554	Splice_Site	DEL	GTCT	TCGA-IB-7651-01A-11D-2154-08	887	1905554	133100962	11645	21962											
TNNT3	7140	broad.mit.edu	37	chr11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggcagaggacgacctgaaGaagaagaaagctctgtcttc	13	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000397301.1	+	13	467	c.459G>T	c.(457-459)aaG>aaT	p.K153N	TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K134N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	153					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)			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)		ACGACCTGAAGAAGAAGAAAG	0.582																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(400-402)aaG>aaT		troponin T type 3 (skeletal, fast)							112	105	107					11																	1955621		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.chr11:1955621G>T	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.459G>T	11.37:g.1955621G>T	ENSP00000380468:p.Lys153Asn					TNNT3_ENST00000397301.1_Missense_Mutation_p.K153N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N	p.K134N			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	11	681	+		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)	153					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.402G>T		.	.	.	.	.	.	.	.	.	.	.	18.94	3.729644	0.69074	.	.	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	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	1.66	0.24008	.	0.048143	0.85682	N	0.000000	D	0.91784	0.7401	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	D;D;D;D;D	0.70487	0.948;0.948;0.948;0.948;0.969	D	0.89446	0.3727	10	0.87932	D	0	-15.3383	6.8869	0.24208	0.1526:0.0:0.7057:0.1416	.	142;134;140;134;153	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	142;38;154;145;144;136;134;140;134;128;123;145;129;134;153;123;123	ENSP00000278317:K142N;ENSP00000370973:K145N;ENSP00000370960:K144N;ENSP00000353815:K136N;ENSP00000370961:K134N;ENSP00000371001:K140N;ENSP00000370991:K134N;ENSP00000370969:K128N;ENSP00000415614:K123N;ENSP00000370975:K145N;ENSP00000344870:K129N;ENSP00000370970:K134N;ENSP00000380468:K153N;ENSP00000380471:K123N;ENSP00000413203:K123N	ENSP00000278317:K142N	K	+	3	2	TNNT3	1912197	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.268000	0.65536	0.139000	0.18822	0.313000	0.20887	AAG		0.582	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		30	176	1	0	5.09552e-08	1	5.30909e-08	30	176					T	1955621	G	T	1955621	3	4	79	1	0	0	0	0	1	0	0	0	16384	933	33	3	509	3	TNNT3	11	1955621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50067	1955621	133050895	11646	21963											
MRPL23	6150	broad.mit.edu	37	chr11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaagaagccggactacaaGgtcgcctacgtgcagctggt	12	11	1	1	rs376634074		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000397298.3	+	4	364	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	93					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|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;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGACTACAAGGTCGCCTACG	0.542											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(277-279)aaG>aaT		mitochondrial ribosomal protein L23		G	ASN/LYS	1,4403	2.1+/-5.4	0,1,2201	29	27	27		279	2.2	1	11		27	0,8598		0,0,4299	no	missense	MRPL23	NM_021134.3	94	0,1,6500	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	93/154	1974067	1,13001	2202	4299	6501	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1974067G>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.279G>T	11.37:g.1974067G>T	ENSP00000380466:p.Lys93Asn		OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	600	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397298.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N	p.K93N			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	4	301	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.279G>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	2.27E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.18	2.24	0.28232	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.84047	0.5386	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83812	0.0242	10	0.87932	D	0	.	7.6413	0.28294	0.2208:0.0:0.7792:0.0	.	93	Q16540	RM23_HUMAN	N	93	ENSP00000380466:K93N;ENSP00000370930:K93N;ENSP00000380465:K93N;ENSP00000370925:K93N;ENSP00000380462:K93N	ENSP00000370925:K93N	K	+	3	2	MRPL23	1930643	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	1.738000	0.38207	0.654000	0.30846	0.313000	0.20887	AAG		0.542	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		8	129	1	0	0.307466	1	0.307576	8	129					T	1974067	G	T	1974067	3	4	79	1	0	0	0	0	1	0	0	0	9830	991	35	3	293	3	MRPL23	11	1974067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18446	1974067	133032449	11647	21964											
TH	7054	broad.mit.edu	37	chr11	2186913	2186913	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggagctccccgtaGgaggacagcagcccggcacc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000333684.5_Silent_p.S305S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1276-1278)tcC>tcA		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						57	55	56					11																	2186913		2199	4297	6496	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186913G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1278C>A	11.37:g.2186913G>T						TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000352909.3_Silent_p.S395S	p.S426S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	12	1296	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	426					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.1278C>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	3.918	-0.018787	0.07681	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59473	-0.7448	4	.	.	.	5.293	10.8905	0.46992	0.0:0.0:0.812:0.188	.	.	.	.	I	115	.	.	L	-	1	2	TH	2143489	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.446000	0.35090	1.970000	0.57323	0.491000	0.48974	CTA		0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		27	145	1	0	4.59853e-10	1	4.86106e-10	27	145					T	2186913	G	T	2186913	2	4	79	1	0	0	0	0	0	0	0	1	15890	987	35	3		3	TH	11	2186913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212846	2186913	132819603	11648	21965											
TH	7054	broad.mit.edu	37	chr11	2189762	2189762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcctctgacacctggCgcacaccactgagcagggcg	12	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189762C>T	ENST00000381178.1	-	4	557	c.539G>A	c.(538-540)cGc>cAc	p.R180H	TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000333684.5_Missense_Mutation_p.R153H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	180					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(538-540)cGc>cAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						15	17	16					11																	2189762		2189	4279	6468	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189762C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.539G>A	11.37:g.2189762C>T	ENSP00000370571:p.Arg180His					TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000352909.3_Missense_Mutation_p.R149H	p.R180H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	557	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	180					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.539G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657311	0.47467	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	3.67	1.55	0.23275	.	0.199725	0.42821	N	0.000647	D	0.97377	0.9142	M	0.66939	2.045	0.33546	D	0.595514	P;B;B;D;D;D	0.58268	0.48;0.029;0.029;0.982;0.97;0.982	B;B;B;P;P;P	0.54544	0.036;0.003;0.003;0.755;0.574;0.755	D	0.96649	0.9480	10	0.87932	D	0	-13.4039	4.7319	0.12968	0.0:0.5847:0.1841:0.2312	.	153;153;149;149;180;176	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	180;176;149;153	ENSP00000370571:R180H;ENSP00000370567:R176H;ENSP00000325951:R149H;ENSP00000328814:R153H	ENSP00000328814:R153H	R	-	2	0	TH	2146338	0.999000	0.42202	0.769000	0.31535	0.084000	0.17831	0.518000	0.22847	0.657000	0.30906	-0.339000	0.08088	CGC		0.711	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	182	0	0	0	1	0	6	182					T	2189762	C	T	2189762	3	4	79	1	0	0	0	0	1	0	0	0	15890	768	27	1	1091	1	TH	11	2189762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2849	2189762	132816754	11649	21966											
TH	7054	broad.mit.edu	37	chr11	2189854	2189854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagctcgcggcctctgGgcgggccgggtctctagatg	15	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000333684.5_Silent_p.A122A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	149					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(445-447)gcC>gcT		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						11	15	14					11																	2189854		2176	4284	6460	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189854G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.447C>T	11.37:g.2189854G>A						TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000352909.3_Silent_p.A118A	p.A149A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	465	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	149					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.447C>T	CCDS7731.1																																																																																				0.622	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		49	133	0	0	0	1	0	49	133					A	2189854	G	A	2189854	2	1	79	1	0	0	0	0	0	0	0	1	15890	1219	43	2		2	TH	11	2189854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	2189854	132816662	11650	21967											
CD81	975	broad.mit.edu	37	chr11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctcatcgctgtgggcgCtgtcatgatgttcgttggct	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGTGGGCGCTGTCATGATG	0.652																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(208-210)gCt>gAt		CD81 molecule							183	121	142					11																	2415352		2202	4299	6501	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2415352C>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.209C>A	11.37:g.2415352C>A	ENSP00000263645:p.Ala70Asp					CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000524805.1_3'UTR	p.A70D	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	465	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	70					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.209C>A	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466384|4.466384	0.84425|0.84425	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	3.67|3.67	3.67|3.67	0.42095|0.42095	Tetraspanin, conserved site (1);|.	0.060633|.	0.64402|.	D|.	0.000004|.	D|D	0.85535|0.85535	0.5719|0.5719	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.989|.	D|D	0.89969|0.89969	0.4092|0.4092	10|5	0.87932|.	D|.	0|.	.|.	14.4788|14.4788	0.67564|0.67564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;70|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	D|M	70;65;59;62;108;63;76|55	ENSP00000263645:A70D;ENSP00000435633:A65D;ENSP00000433767:A59D;ENSP00000432497:A62D;ENSP00000370424:A108D;ENSP00000432249:A63D;ENSP00000432033:A76D|.	ENSP00000263645:A70D|.	A|L	+|+	2|1	0|2	CD81|CD81	2371928|2371928	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.837000|0.837000	0.47467|0.47467	4.170000|4.170000	0.58229|0.58229	2.079000|2.079000	0.62486|0.62486	0.462000|0.462000	0.41574|0.41574	GCT|CTG		0.652	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		10	324	1	0	3.86212e-05	1	3.93988e-05	10	324					A	2415352	C	A	2415352	3	1	79	1	0	0	0	0	1	0	0	0	3048	797	28	3	219	3	CD81	11	2415352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225498	2415352	132591164	11651	21968											
TRPM5	29850	broad.mit.edu	37	chr11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgggggctcaccatgCgctctaccacgatgatcttg	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000155858.6	-	17	2611	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2608-2610)cGc>cAc		transient receptor potential cation channel, subfamily M, member 5							60	63	62					11																	2432869		2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432869C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2603G>A	11.37:g.2432869C>T	ENSP00000155858:p.Arg868His					TRPM5_ENST00000155858.6_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H	p.R870H			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	17	2617	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	868						Missense_Mutation	SNP	ENST00000155858.6	37	c.2609G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662312	0.67700	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	3.88	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	L	0.58669	1.825	0.46203	D	0.998928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.99	T	0.80111	-0.1519	10	0.87932	D	0	-17.9194	9.5894	0.39537	0.0:0.8985:0.0:0.1015	.	868;870;868	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	862;868;870;868;868;868	ENSP00000434383:R862H;ENSP00000155858:R868H;ENSP00000387965:R870H;ENSP00000434121:R868H;ENSP00000436809:R868H	ENSP00000155858:R868H	R	-	2	0	TRPM5	2389445	0.974000	0.33945	0.946000	0.38457	0.592000	0.36648	3.638000	0.54332	2.120000	0.65058	0.491000	0.48974	CGC		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		74	374	0	0	0	1	0	74	374					T	2432869	C	T	2432869	3	4	79	1	0	0	0	0	1	0	0	0	16642	768	27	1	926	1	TRPM5	11	2432869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17517	2432869	132573647	11652	21969											
TRPM5	29850	broad.mit.edu	37	chr11	2436266	2436266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgtgggccgcttggcCgggcccttctcctggaggac	16	15	1	0	rs374016490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000155858.6	-	10	1499	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000528453.1_Silent_p.P497P	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12833	0.0		0.0	False		,,,				2504	0.0				NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1495-1497)ccG>ccA		transient receptor potential cation channel, subfamily M, member 5		C		2,4328		0,2,2163	17	22	20		1491	-7.3	0	11		20	0,8520		0,0,4260	no	coding-synonymous	TRPM5	NM_014555.3		0,2,6423	TT,TC,CC		0.0,0.0462,0.0156		497/1166	2436266	2,12848	2165	4260	6425	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2436266C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1491G>A	11.37:g.2436266C>T						TRPM5_ENST00000155858.6_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000528453.1_Silent_p.P497P	p.P499P			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	10	1505	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	497						Silent	SNP	ENST00000155858.6	37	c.1497G>A	CCDS31340.1																																																																																				0.726	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		18	150	0	0	0	1	0	18	150					T	2436266	C	T	2436266	2	4	79	1	0	0	0	0	0	0	0	1	16642	639	23	1		1	TRPM5	11	2436266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3397	2436266	132570250	11653	21970											
KCNQ1	3784	broad.mit.edu	37	chr11	2606516	2606516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaaccggcagatcccGgcggcagcctcactcattca	8	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	369					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1105-1107)ccG>ccA		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						83	75	78					11																	2606516		2202	4299	6501	SO:0001819	synonymous_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2606516G>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1107G>A	11.37:g.2606516G>A						KCNQ1_ENST00000335475.5_Silent_p.P242P	p.P369P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	8	1215	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	369					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	c.1107G>A	CCDS7736.1																																																																																				0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		20	385	0	0	0	1	0	20	385					A	2606516	G	A	2606516	2	1	79	1	0	0	0	0	0	0	0	1	8112	1103	39	1		1	KCNQ1	11	2606516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170250	2606516	132400000	11654	21971											
CARS	833	broad.mit.edu	37	chr11	3059334	3059334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgcacagctttctcAagtggctctgtggcaagctg	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3059334A>G	ENST00000397111.5	-	6	743	c.498T>C	c.(496-498)ctT>ctC	p.L166L	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Silent_p.L156L|CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000401769.3_Silent_p.L179L|CARS_ENST00000380525.4_Silent_p.L249L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	166					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CAGCTTTCTCAAGTGGCTCTG	0.517			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(466-468)ctT>ctC		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						160	140	147					11																	3059334		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3059334A>G	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.498T>C	11.37:g.3059334A>G			OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CARS_ENST00000401769.3_Silent_p.L179L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Silent_p.L166L|CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000380525.4_Silent_p.L249L	p.L156L			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	7	844	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	166					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.468T>C	CCDS7742.1																																																																																				0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		14	692	0	0	0	1	0	14	692					G	3059334	A	G	3059334	2	3	79	1	0	0	0	0	0	0	0	1	2664	117	5	4		4	CARS	11	3059334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	452818	3059334	131947182	11655	21972											
OSBPL5	114879	broad.mit.edu	37	chr11	3128610	3128610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctatggtcctgggtctcGgtatctgactcctcagggtt	13	11	3	1	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000389989.3_Silent_p.T246T|OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	314					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(940-942)acC>acT		oxysterol binding protein-like 5		G	,,	0,4404		0,0,2202	167	167	167		738,942,738	-9	0	11	dbSNP_134	167	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	,,	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	,,	246/812,314/880,246/812	3128610	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128610G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.942C>T	11.37:g.3128610G>A						OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000389989.3_Silent_p.T246T	p.T314T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1101	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	314					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.942C>T	CCDS31344.1																																																																																				0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			219	933	0	0	0	1	0	219	933					A	3128610	G	A	3128610	2	1	79	1	0	0	0	0	0	0	0	1	11322	1103	39	1		1	OSBPL5	11	3128610	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69276	3128610	131877906	11656	21973											
MRGPRE	116534	broad.mit.edu	37	chr11	3249343	3249343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgccgaagggcaggccGcagaagaggaagaggaggac	18	7	0	4	rs369020369		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	ENST00000389832.5	-	2	993	c.687C>T	c.(685-687)tgC>tgT	p.C229C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.C228C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCAGGCCGCAGAAGAGGA	0.662																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(685-687)tgC>tgT		MAS-related GPR, member E		G		0,4106		0,0,2053	15	22	20		684	-0.4	0	11		20	1,8369		0,1,4184	no	coding-synonymous	MRGPRE	NM_001039165.2		0,1,6237	AA,AG,GG		0.0119,0.0,0.0080		228/312	3249343	1,12475	2053	4185	6238	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249343G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.687C>T	11.37:g.3249343G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.C228C	p.C229C			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	993	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	228					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.687C>T																																																																																					0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		14	51	0	0	0	1	0	14	51					A	3249343	G	A	3249343	2	1	79	1	0	0	0	0	0	0	0	1	9805	1079	38	1		1	MRGPRE	11	3249343	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120733	3249343	131757173	11657	21974											
MRGPRE	116534	broad.mit.edu	37	chr11	3249838	3249838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagatccgcgcaggccacGtccaggaggtagatggcgaa	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.D63D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gaC>gaT		MAS-related GPR, member E							82	100	94					11																	3249838		2124	4242	6366	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249838G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.192C>T	11.37:g.3249838G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.D63D	p.D64D			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	498	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	63					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.192C>T																																																																																					0.647	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		104	490	0	0	0	1	0	104	490					A	3249838	G	A	3249838	2	1	79	1	0	0	0	0	0	0	0	1	9805	1136	40	1		1	MRGPRE	11	3249838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495	3249838	131756678	11658	21975											
ZNF195	7748	broad.mit.edu	37	chr11	3380552	3380552	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatgtttggtaatgtctgaGaaccacatgaagactctgcc	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	ENST00000399602.4	-	6	1812	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF195_ENST00000429541.2_Silent_p.F494F|ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.F490F|ZNF195_ENST00000343338.7_Silent_p.F494F	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAATGTCTGAGAACCACATGA	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1468-1470)ttC>ttT		zinc finger protein 195							116	118	118					11																	3380552		2065	4232	6297	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380552G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1686C>T	11.37:g.3380552G>A						ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000399602.4_Silent_p.F562F|ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000429541.2_Silent_p.F494F	p.F490F	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1574	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	562					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1470C>T	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			98	404	0	0	0	1	0	98	404					A	3380552	G	A	3380552	2	1	79	1	0	0	0	0	0	0	0	1	17811	933	33	2		2	ZNF195	11	3380552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130714	3380552	131625964	11659	21976											
ZNF195	7748	broad.mit.edu	37	chr11	3380642	3380642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaataaggttggaggactgGgtaaagttttttccacattc	10	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000399602.4	-	6	1722	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ZNF195_ENST00000429541.2_Silent_p.T464T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.T460T|ZNF195_ENST00000343338.7_Silent_p.T464T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1378-1380)acC>acT		zinc finger protein 195							146	148	148					11																	3380642		2039	4221	6260	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380642G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1596C>T	11.37:g.3380642G>A						ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000399602.4_Silent_p.T532T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000429541.2_Silent_p.T464T	p.T460T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1484	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	532					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1380C>T	CCDS44522.1																																																																																				0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			57	641	0	0	0	1	0	57	641					A	3380642	G	A	3380642	2	1	79	1	0	0	0	0	0	0	0	1	17811	1219	43	2		2	ZNF195	11	3380642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	3380642	131625874	11660	21977											
ZNF195	7748	broad.mit.edu	37	chr11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagcaagaatcatcTgttgattagaaaggcttgag	9	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000399602.4	-	6	1244	c.1118A>C	c.(1117-1119)cAg>cCg	p.Q373P	ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Missense_Mutation_p.Q301P|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	373				Missing (in Ref. 2; BAD18466). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(901-903)cAg>cCg		zinc finger protein 195							126	117	120					11																	3381120		1895	4114	6009	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381120T>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1118A>C	11.37:g.3381120T>G	ENSP00000382511:p.Gln373Pro					ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q373P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P	p.Q301P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1006	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	373					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.902A>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.354863	0.24512	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	0.501	0.501	0.16925	.	.	.	.	.	T	0.36524	0.0970	M	0.82823	2.61	0.23070	N	0.998342	P;P;D;P;P;P	0.53462	0.597;0.797;0.96;0.871;0.824;0.871	P;B;D;B;P;B	0.64237	0.679;0.088;0.923;0.18;0.84;0.18	T	0.10268	-1.0637	9	0.87932	D	0	.	5.265	0.15593	0.0:1.0E-4:0.0:0.9999	.	354;232;350;305;373;301	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	301;373;305;305;350;354	ENSP00000346613:Q301P;ENSP00000382511:Q373P;ENSP00000344483:Q305P;ENSP00000387998:Q305P;ENSP00000005082:Q350P;ENSP00000435828:Q354P	ENSP00000005082:Q350P	Q	-	2	0	ZNF195	3337696	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	0.053000	0.14184	0.431000	0.26258	0.254000	0.18369	CAG		0.423	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			148	642	0	0	0	1	0	148	642					G	3381120	T	G	3381120	3	3	79	1	0	0	0	0	1	0	0	0	17811	1580	55	4	775	4	ZNF195	11	3381120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478	3381120	131625396	11661	21978											
ZNF195	7748	broad.mit.edu	37	chr11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcatttgaaaggatttgCcacattcttgacatttgaaa	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000399602.4	-	6	875	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(532-534)gGc>gAc		zinc finger protein 195							55	54	55					11																	3381489		1934	4156	6090	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381489C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.749G>A	11.37:g.3381489C>T	ENSP00000382511:p.Gly250Asp					ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000399602.4_Missense_Mutation_p.G250D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000438262.2_3'UTR	p.G178D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	637	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	250			Spacer.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.533G>A	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	ZNF195	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC		0.299	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			54	246	0	0	0	1	0	54	246					T	3381489	C	T	3381489	3	4	79	1	0	0	0	0	1	0	0	0	17811	739	26	2	1144	2	ZNF195	11	3381489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	3381489	131625027	11662	21979											
CHRNA10	57053	broad.mit.edu	37	chr11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcaagcagcgagatgaGcacgcagggcagcagcaggt	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000250699.2	-	4	816	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Silent_p.C66C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	249					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)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(745-747)Ctc>Ttc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						23	25	25					11																	3688612		2192	4289	6481	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688612G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.745C>T	11.37:g.3688612G>A	ENSP00000250699:p.Leu249Phe					CHRNA10_ENST00000534359.1_Silent_p.C66C	p.L249F	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	816	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	249						Missense_Mutation	SNP	ENST00000250699.2	37	c.745C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141562	0.37825	.	.	ENSG00000129749	ENST00000250699	D	0.91464	-2.85	5.33	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.377447	0.20813	N	0.085212	D	0.90198	0.6936	M	0.69185	2.1	0.80722	D	1	B	0.34399	0.452	P	0.44477	0.451	D	0.87106	0.2182	10	0.39692	T	0.17	.	6.2434	0.20803	0.0913:0.0:0.6228:0.2859	.	249	Q9GZZ6	ACH10_HUMAN	F	249	ENSP00000250699:L249F	ENSP00000250699:L249F	L	-	1	0	CHRNA10	3645188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	1.214000	0.43395	0.561000	0.74099	CTC		0.697	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			28	122	0	0	0	1	0	28	122					A	3688612	G	A	3688612	3	1	79	1	0	0	0	0	1	0	0	0	3391	971	34	2	615	2	CHRNA10	11	3688612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307123	3688612	131317904	11663	21980											
CHRNA10	57053	broad.mit.edu	37	chr11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagggctcggagcagcagcCgtaggtgagcacgcgccgcc	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000250699.2	-	4	720	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Silent_p.T34T	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	217					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)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(649-651)Ggc>Agc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						11	14	13					11																	3688708		2136	4186	6322	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688708C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.649G>A	11.37:g.3688708C>T	ENSP00000250699:p.Gly217Ser					CHRNA10_ENST00000534359.1_Silent_p.T34T	p.G217S	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	720	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	217						Missense_Mutation	SNP	ENST00000250699.2	37	c.649G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216189	0.79352	.	.	ENSG00000129749	ENST00000250699	T	0.80393	-1.37	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000025	T	0.81192	0.4771	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75238	-0.3388	10	0.07990	T	0.79	.	17.3358	0.87280	0.0:1.0:0.0:0.0	.	217	Q9GZZ6	ACH10_HUMAN	S	217	ENSP00000250699:G217S	ENSP00000250699:G217S	G	-	1	0	CHRNA10	3645284	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.433000	0.82419	0.561000	0.74099	GGC		0.731	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			23	116	0	0	0	1	0	23	116					T	3688708	C	T	3688708	3	4	79	1	0	0	0	0	1	0	0	0	3391	652	23	1	711	1	CHRNA10	11	3688708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	3688708	131317808	11664	21981											
NUP98	4928	broad.mit.edu	37	chr11	3697446	3697446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaaggctgcgcagttcGtccatggcatagtcctcagg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3697446G>A	ENST00000324932.7	-	33	5766	c.5346C>T	c.(5344-5346)gaC>gaT	p.D1782D	NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1799					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGCGCAGTTCGTCCATGGCAT	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5344-5346)gaC>gaT		nucleoporin 98kDa							86	81	83					11																	3697446		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697446G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5346C>T	11.37:g.3697446G>A						NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1708D	p.D1782D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5766	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1799					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.5346C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040427	0.07497	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.66	-5.9	0.02275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.5892	0.7825	0.01043	0.1843:0.3352:0.1852:0.2953	.	.	.	.	X	735	.	.	R	-	1	2	NUP98	3654022	0.998000	0.40836	0.816000	0.32577	0.647000	0.38526	0.587000	0.23909	-1.198000	0.02669	-2.363000	0.00238	CGA		0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		10	397	0	0	0	1	0	10	397					A	3697446	G	A	3697446	2	1	79	1	0	0	0	0	0	0	0	1	10815	1136	40	1		1	NUP98	11	3697446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8738	3697446	131309070	11665	21982											
NUP98	4928	broad.mit.edu	37	chr11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgaccatatgcaaagCctgaattagtggtggaggag	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	249	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATATGCAAAGCCTGAATTAGT	0.448			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(745-747)gGc>gAc		nucleoporin 98kDa							126	119	122					11																	3793016		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3793016C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.746G>A	11.37:g.3793016C>T	ENSP00000316032:p.Gly249Asp					NUP98_ENST00000359171.4_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D	p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	7	1166	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	249			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.746G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509444	0.64522	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.72	4.79	0.61399	.	0.240110	0.42420	D	0.000701	T	0.58119	0.2100	M	0.76838	2.35	0.31610	N	0.651631	P;P;B;P;P	0.39903	0.568;0.649;0.069;0.694;0.694	B;B;B;B;B	0.41299	0.193;0.322;0.082;0.353;0.353	T	0.68100	-0.5498	9	0.42905	T	0.14	.	15.1002	0.72269	0.0:0.8525:0.1475:0.0	.	249;249;249;249;249	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	D	249	.	ENSP00000316032:G249D	G	-	2	0	NUP98	3749592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.261000	0.43276	1.388000	0.46506	0.655000	0.94253	GGC		0.448	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		38	245	0	0	0	1	0	38	245					T	3793016	C	T	3793016	3	4	79	1	0	0	0	0	1	0	0	0	10815	739	26	2	4836	2	NUP98	11	3793016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95570	3793016	131213500	11666	21983											
NUP98	4928	broad.mit.edu	37	chr11	3800140	3800140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattttgtgcaaaggcattGttttgggatgagaagagact	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	106	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGCATTGTTTTGGGATG	0.443			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(316-318)aaC>aaT		nucleoporin 98kDa							165	157	160					11																	3800140		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3800140G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.318C>T	11.37:g.3800140G>A						NUP98_ENST00000359171.4_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N	p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	4	738	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	106			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.318C>T	CCDS7746.1																																																																																				0.443	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		57	460	0	0	0	1	0	57	460					A	3800140	G	A	3800140	2	1	79	1	0	0	0	0	0	0	0	1	10815	1368	48	2		2	NUP98	11	3800140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	3800140	131206376	11667	21984											
STIM1	6786	broad.mit.edu	37	chr11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaccgctggcaacagatcGagatcctctgtggcttccag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1300-1302)Gag>Aag		stromal interaction molecule 1							95	87	89					11																	4104554		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104554G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1300G>A	11.37:g.4104554G>A	ENSP00000300737:p.Glu434Lys					STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	p.E434K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1869	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	434					E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1300G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	STIM1	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG		0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		13	365	0	0	0	1	0	13	365					A	4104554	G	A	4104554	3	1	79	1	0	0	0	0	1	0	0	0	15335	1059	37	1	1338	1	STIM1	11	4104554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304414	4104554	130901962	11668	21985											
RRM1	6240	broad.mit.edu	37	chr11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacattggatattgttctgGccaataaagatgtatgtata	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	126					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(376-378)Gcc>Acc		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						84	87	86					11																	4128754		2201	4297	6498	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4128754G>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.376G>A	11.37:g.4128754G>A	ENSP00000300738:p.Ala126Thr					RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	p.A126T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	4	580	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	126					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.376G>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764826	0.69878	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	T;T	0.31510	1.49;1.52	6.07	5.17	0.71159	Ribonucleotide reductase R1 subunit, N-terminal (1);	0.048798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56340	1.77	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05354	-1.0890	9	.	.	.	-4.3347	14.2372	0.65934	0.0706:0.0:0.9294:0.0	.	126	P23921	RIR1_HUMAN	T	126;29	ENSP00000300738:A126T;ENSP00000390539:A29T	.	A	+	1	0	RRM1	4085330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.091000	0.94151	1.582000	0.49881	0.655000	0.94253	GCC		0.323	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		62	268	0	0	0	1	0	62	268					A	4128754	G	A	4128754	3	1	79	1	0	0	0	0	1	0	0	0	13731	1203	42	2	390	2	RRM1	11	4128754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	4128754	130877762	11669	21986											
OR52B4	143496	broad.mit.edu	37	chr11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaagtcaatctttttaaaaGaaatatgatagggaaaattg	8	2	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	164					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)			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)		CTTTTTAAAAGAAATATGATA	0.353																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(490-492)Ctt>Att		olfactory receptor, family 52, subfamily B, member 4							63	61	62					11																	4389036		1822	4076	5898	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389036G>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.490C>A	11.37:g.4389036G>T	ENSP00000386160:p.Leu164Ile						p.L164I	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	580	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	164					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.490C>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228910	0.22542	.	.	ENSG00000221996	ENST00000408920	T	0.00099	8.73	5.29	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00412	0.0013	M	0.89601	3.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	2.8409	0.05528	0.2182:0.1229:0.5331:0.1258	.	164	Q8NGK2	O52B4_HUMAN	I	164	ENSP00000386160:L164I	ENSP00000386160:L164I	L	-	1	0	OR52B4	4345612	0.017000	0.18338	0.330000	0.25442	0.003000	0.03518	0.641000	0.24720	0.390000	0.25115	-0.140000	0.14226	CTT		0.353	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		76	365	1	0	3.4779e-39	1	4.20191e-39	76	365					T	4389036	G	T	4389036	3	4	79	1	0	0	0	0	1	0	0	0	11154	942	33	3	458	3	OR52B4	11	4389036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260282	4389036	130617480	11670	21987											
OR52I2	143502	broad.mit.edu	37	chr11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggctatctcactgagtgCcatgtacatcatagccctgt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGAGTGCCATGTACATC	0.493																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(187-189)gCc>gAc		olfactory receptor, family 52, subfamily I, member 2							247	241	243					11																	4608230		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608230C>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.188C>A	11.37:g.4608230C>A	ENSP00000308764:p.Ala63Asp						p.A63D	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	210	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.188C>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112313	0.08831	.	.	ENSG00000226288	ENST00000312614	T	0.01106	5.33	4.1	-1.4	0.08968	.	1.354880	0.05027	N	0.473901	T	0.01940	0.0061	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.23574	0.047	T	0.47459	-0.9116	10	0.35671	T	0.21	-0.0649	8.724	0.34458	0.0:0.4359:0.0:0.5641	.	63	Q8NH67	O52I2_HUMAN	D	63	ENSP00000308764:A63D	ENSP00000308764:A63D	A	+	2	0	OR52I2	4564806	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	-1.719000	0.01873	-0.171000	0.10797	0.552000	0.68991	GCC		0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		170	908	1	0	4.37143e-48	1	5.39033e-48	170	908					A	4608230	C	A	4608230	3	1	79	1	0	0	0	0	1	0	0	0	11163	739	26	3	190	3	OR52I2	11	4608230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219194	4608230	130398286	11671	21988											
OR52I2	143502	broad.mit.edu	37	chr11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtacgtgatcatcccaGccaccttaaatcccatcatc	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCATCCCAGCCACCTTAAA	0.522																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(946-948)Gcc>Tcc		olfactory receptor, family 52, subfamily I, member 2							198	187	191					11																	4608988		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608988G>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.946G>T	11.37:g.4608988G>T	ENSP00000308764:p.Ala316Ser						p.A316S	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	968	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	316					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.946G>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245293	0.22796	.	.	ENSG00000226288	ENST00000312614	T	0.62788	-0.0	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.499351	0.16881	N	0.195686	T	0.41026	0.1141	N	0.12182	0.205	0.25894	N	0.983433	B	0.22003	0.063	B	0.17433	0.018	T	0.35943	-0.9768	10	0.87932	D	0	-4.6209	8.0732	0.30701	0.0:0.7377:0.1695:0.0927	.	316	Q8NH67	O52I2_HUMAN	S	316	ENSP00000308764:A316S	ENSP00000308764:A316S	A	+	1	0	OR52I2	4565564	0.000000	0.05858	0.973000	0.42090	0.344000	0.29017	-0.301000	0.08232	0.429000	0.26202	-0.936000	0.02699	GCC		0.522	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		64	693	1	0	5.80444e-35	1	6.91851e-35	64	693					T	4608988	G	T	4608988	3	4	79	1	0	0	0	0	1	0	0	0	11163	971	34	3	948	3	OR52I2	11	4608988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	4608988	130397528	11672	21989											
OR52I1	390037	broad.mit.edu	37	chr11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggatggattccactcGgcatgagcccatgtattgct	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000530443.2	+	1	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCCACTCGGCATGAGCCC	0.512																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(247-249)cGg>cAg		olfactory receptor, family 52, subfamily I, member 1							165	142	150					11																	4615444		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615444G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.176G>A	11.37:g.4615444G>A	ENSP00000436453:p.Arg59Gln					OR52I1_ENST00000530443.2_Missense_Mutation_p.R59Q	p.R83Q			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	248	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.248G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	g	7.180	0.589398	0.13812	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.02974	4.09;4.09	4.63	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002662	T	0.01661	0.0053	N	0.08118	0	0.18873	N	0.999988	B	0.20780	0.048	B	0.12837	0.008	T	0.30851	-0.9964	9	0.87932	D	0	-0.5677	5.7199	0.17980	0.0:0.0885:0.3218:0.5897	.	59	Q8NGK6	O52I1_HUMAN	Q	83;59	ENSP00000409094:R83Q;ENSP00000436453:R59Q	ENSP00000409094:R83Q	R	+	2	0	OR52I1	4572020	0.042000	0.20092	0.689000	0.30133	0.062000	0.15995	0.900000	0.28431	0.022000	0.15160	-2.279000	0.00272	CGG		0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		180	602	0	0	0	1	0	180	602					A	4615444	G	A	4615444	3	1	79	1	0	0	0	0	1	0	0	0	11162	1116	39	1	178	1	OR52I1	11	4615444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6456	4615444	130391072	11673	21990											
OR52I1	390037	broad.mit.edu	37	chr11	4615645	4615645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaccatggcttttgaccGctatgtagccatctgcaagc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	ENST00000530443.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	OR52I1_ENST00000450052.2_Missense_Mutation_p.R150H	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTAGCC	0.502																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(448-450)cGc>cAc		olfactory receptor, family 52, subfamily I, member 1							49	44	46					11																	4615645		2200	4278	6478	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615645G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.377G>A	11.37:g.4615645G>A	ENSP00000436453:p.Arg126His					OR52I1_ENST00000530443.2_Missense_Mutation_p.R126H	p.R150H			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	449	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	126					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.449G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498814	0.64298	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	D;D	0.97161	-4.27;-4.27	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000351	D	0.98501	0.9500	M	0.92459	3.31	0.35022	D	0.757953	D	0.89917	1.0	D	0.68765	0.96	D	0.99944	1.1445	9	0.62326	D	0.03	-0.2042	11.6875	0.51494	0.0865:0.0:0.9135:0.0	.	126	Q8NGK6	O52I1_HUMAN	H	150;126	ENSP00000409094:R150H;ENSP00000436453:R126H	ENSP00000409094:R150H	R	+	2	0	OR52I1	4572221	0.442000	0.25633	1.000000	0.80357	0.682000	0.39822	3.290000	0.51755	1.470000	0.48102	-0.226000	0.12346	CGC		0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		35	185	0	0	0	1	0	35	185					A	4615645	G	A	4615645	3	1	79	1	0	0	0	0	1	0	0	0	11162	1087	38	1	379	1	OR52I1	11	4615645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	4615645	130390871	11674	21991											
OR52I1	390037	broad.mit.edu	37	chr11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaagcacatagctttggCcaggttagcatgtgctgacc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000530443.2	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, 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)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.502																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(637-639)gCc>gTc		olfactory receptor, family 52, subfamily I, member 1							195	182	186					11																	4615834		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615834C>T	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.566C>T	11.37:g.4615834C>T	ENSP00000436453:p.Ala189Val					OR52I1_ENST00000530443.2_Missense_Mutation_p.A189V	p.A213V			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	638	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	189					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.638C>T	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740802	0.30865	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73047	-0.71;-0.71	4.96	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55033	0.1895	L	0.31371	0.925	0.28777	N	0.900046	B	0.22276	0.067	B	0.25140	0.058	T	0.58978	-0.7540	9	0.33940	T	0.23	-8.131	6.7541	0.23503	0.0:0.7797:0.0:0.2203	.	189	Q8NGK6	O52I1_HUMAN	V	213;189	ENSP00000409094:A213V;ENSP00000436453:A189V	ENSP00000409094:A213V	A	+	2	0	OR52I1	4572410	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.420000	0.21263	1.371000	0.46172	0.555000	0.69702	GCC		0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		30	831	0	0	0	1	0	30	831					T	4615834	C	T	4615834	3	4	79	1	0	0	0	0	1	0	0	0	11162	739	26	2	568	2	OR52I1	11	4615834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189	4615834	130390682	11675	21992											
TRIM68	55128	broad.mit.edu	37	chr11	4626372	4626372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatgctctggggactgGctgcaggcctcacacattat	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(361-363)agC>agT		tripartite motif containing 68							117	100	106					11																	4626372		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626372G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.363C>T	11.37:g.4626372G>A							p.S121S	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	652	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	121					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.363C>T	CCDS31356.1																																																																																				0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		30	454	0	0	0	1	0	30	454					A	4626372	G	A	4626372	2	1	79	1	0	0	0	0	0	0	0	1	16594	1194	42	2		2	TRIM68	11	4626372	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10538	4626372	130380144	11676	21993											
TRIM68	55128	broad.mit.edu	37	chr11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacttcttccacaatggCttccaccaaggctgtgggat	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	9					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(25-27)Gcc>Tcc		tripartite motif containing 68							90	76	80					11																	4626710		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626710C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.25G>T	11.37:g.4626710C>A	ENSP00000300747:p.Ala9Ser						p.A9S	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	314	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	9					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.25G>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256711	0.39896	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84223	-1.82;-1.82	4.41	3.4	0.38934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.43416	D	0.000562	T	0.74824	0.3767	N	0.04655	-0.195	0.30812	N	0.738715	D;B	0.69078	0.997;0.192	P;B	0.55785	0.784;0.1	T	0.69873	-0.5027	10	0.16896	T	0.51	.	9.5446	0.39273	0.0:0.7847:0.2153:0.0	.	9;9	E9PR29;Q6AZZ1	.;TRI68_HUMAN	S	9	ENSP00000300747:A9S;ENSP00000436112:A9S	ENSP00000300747:A9S	A	-	1	0	TRIM68	4583286	0.002000	0.14202	0.995000	0.50966	0.957000	0.61999	0.808000	0.27154	2.387000	0.81309	0.549000	0.68633	GCC		0.512	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		61	326	1	0	1.48873e-21	1	1.67879e-21	61	326					A	4626710	C	A	4626710	3	1	79	1	0	0	0	0	1	0	0	0	16594	797	28	3	1456	3	TRIM68	11	4626710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	4626710	130379806	11677	21994											
OR51D1	390038	broad.mit.edu	37	chr11	4661117	4661117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtatccctggcctgGggcctaccatacacttttgg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661117G>T	ENST00000357605.2	+	1	173	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGGCCTGGGGCCTACCAT	0.512																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(97-99)Ggg>Tgg		olfactory receptor, family 51, subfamily D, member 1							174	146	156					11																	4661117		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661117G>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.97G>T	11.37:g.4661117G>T	ENSP00000350222:p.Gly33Trp						p.G33W	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	173	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	33					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.97G>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277092	0.23307	.	.	ENSG00000197428	ENST00000357605	T	0.00330	8.08	4.84	3.92	0.45320	.	0.150320	0.30989	N	0.008463	T	0.00356	0.0011	N	0.08118	0	0.34857	D	0.742262	D	0.76494	0.999	D	0.71184	0.972	D	0.87192	0.2235	10	0.87932	D	0	.	14.2248	0.65850	0.0:0.1507:0.8493:0.0	.	33	Q8NGF3	O51D1_HUMAN	W	33	ENSP00000350222:G33W	ENSP00000350222:G33W	G	+	1	0	OR51D1	4617693	1.000000	0.71417	0.226000	0.23910	0.003000	0.03518	3.193000	0.50997	1.378000	0.46305	-0.300000	0.09419	GGG		0.512	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		123	465	1	0	3.44186e-60	1	4.32629e-60	123	465					T	4661117	G	T	4661117	3	4	79	1	0	0	0	0	1	0	0	0	11135	1232	43	3	99	3	OR51D1	11	4661117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34407	4661117	130345399	11678	21995											
OR51D1	390038	broad.mit.edu	37	chr11	4661207	4661207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaccattgtcctcatcattCgtgtggagaggcgactgcat	11	10	2	2	rs375185822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661207C>T	ENST00000357605.2	+	1	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, 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)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(187-189)Cgt>Tgt		olfactory receptor, family 51, subfamily D, member 1		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	195	146	163		187	3	0.1	11		163	0,8596		0,0,4298	no	missense	OR51D1	NM_001004751.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	63/325	4661207	1,12997	2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661207C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.187C>T	11.37:g.4661207C>T	ENSP00000350222:p.Arg63Cys						p.R63C	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	263	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.187C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705514	0.15172	2.27E-4	0.0	ENSG00000197428	ENST00000357605	T	0.02103	4.45	4.84	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.151118	0.31199	N	0.008062	T	0.02767	0.0083	L	0.48218	1.51	0.26647	N	0.972176	D	0.53462	0.96	P	0.45913	0.497	T	0.42344	-0.9457	10	0.40728	T	0.16	.	3.5858	0.07970	0.2943:0.4799:0.1431:0.0827	.	63	Q8NGF3	O51D1_HUMAN	C	63	ENSP00000350222:R63C	ENSP00000350222:R63C	R	+	1	0	OR51D1	4617783	0.000000	0.05858	0.106000	0.21319	0.002000	0.02628	-0.294000	0.08309	0.728000	0.32382	0.563000	0.77884	CGT		0.542	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		77	304	0	0	0	1	0	77	304					T	4661207	C	T	4661207	3	4	79	1	0	0	0	0	1	0	0	0	11135	884	31	1	189	1	OR51D1	11	4661207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	4661207	130345309	11679	21996											
OR51E1	143503	broad.mit.edu	37	chr11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatggaatccacagtgCtgctggccatggcttttgac	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000396952.5	+	2	1002	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAGTGCTGCTGGCCAT	0.522																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(352-354)Ctg>Atg		olfactory receptor, family 51, subfamily E, member 1							113	83	93					11																	4674108		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674108C>A	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.352C>A	11.37:g.4674108C>A	ENSP00000380155:p.Leu118Met					OR51E1_ENST00000530215.1_Intron	p.L118M	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1002	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	117					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.352C>A	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388700	0.61956	.	.	ENSG00000180785	ENST00000396952	D	0.86366	-2.11	4.66	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	D	0.93690	0.7984	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	9.6807	0.40067	0.0:0.8297:0.0:0.1703	.	117	Q8TCB6	O51E1_HUMAN	M	118	ENSP00000380155:L118M	ENSP00000380155:L118M	L	+	1	2	OR51E1	4630684	0.454000	0.25728	0.997000	0.53966	0.989000	0.77384	1.137000	0.31479	0.593000	0.29745	0.655000	0.94253	CTG		0.522	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		62	268	1	0	3.74213e-36	1	4.47626e-36	62	268					A	4674108	C	A	4674108	3	1	79	1	0	0	0	0	1	0	0	0	11136	796	28	3	354	3	OR51E1	11	4674108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12901	4674108	130332408	11680	21997											
OR51E2	81285	broad.mit.edu	37	chr11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgttcgtattatcagaAaataggacaaggagatgaac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	218					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTATCAGAAAATAGGACAA	0.488																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(652-654)tTt>tCt		olfactory receptor, family 51, subfamily E, member 2							93	83	86					11																	4703289		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703289A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.653T>C	11.37:g.4703289A>G	ENSP00000380153:p.Phe218Ser						p.F218S	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	892	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	218					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.653T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960941	0.53400	.	.	ENSG00000167332	ENST00000396950	T	0.00048	8.82	4.97	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00073	0.0002	N	0.02169	-0.655	0.09310	N	1	P	0.43662	0.814	B	0.41988	0.372	T	0.49835	-0.8897	10	0.54805	T	0.06	.	9.4954	0.38984	0.9156:0.0:0.0844:0.0	.	218	Q9H255	O51E2_HUMAN	S	218	ENSP00000380153:F218S	ENSP00000380153:F218S	F	-	2	0	OR51E2	4659865	0.000000	0.05858	0.905000	0.35620	0.927000	0.56198	1.157000	0.31724	0.919000	0.36945	0.533000	0.62120	TTT		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		67	254	0	0	0	1	0	67	254					G	4703289	A	G	4703289	3	3	79	1	0	0	0	0	1	0	0	0	11137	14	1	4	313	4	OR51E2	11	4703289	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29181	4703289	130303227	11681	21998											
OR51F1	256892	broad.mit.edu	37	chr11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactatgtctgttcattttgTaagcagcagactgagcatag	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000380383.1	-	1	951	c.952A>G	c.(952-954)Aca>Gca	p.T318A	OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTCATTTTGTAAGCAGCAGA	0.423																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(952-954)Aca>Gca		olfactory receptor, family 51, subfamily F, member 1							87	83	84					11																	4790217		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790217T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.952A>G	11.37:g.4790217T>C	ENSP00000369744:p.Thr318Ala					MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000477339.1_Intron	p.T318A			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	951	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	311						Missense_Mutation	SNP	ENST00000380383.1	37	c.952A>G		.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436733	0.00182	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00002	9.85;9.85	5.2	-7.56	0.01322	.	1.837620	0.02621	N	0.103194	T	0.00039	0.0001	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	10	0.07813	T	0.8	.	1.1005	0.01683	0.3628:0.2485:0.0937:0.295	.	318	A6NGY5	O51F1_HUMAN	A	311;318	ENSP00000345163:T311A;ENSP00000369744:T318A	ENSP00000345163:T311A	T	-	1	0	OR51F1	4746793	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.691000	0.05133	-1.941000	0.01042	-1.255000	0.01485	ACA		0.423	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		63	256	0	0	0	1	0	63	256					C	4790217	T	C	4790217	3	2	79	1	0	0	0	0	1	0	0	0	11138	1638	57	4	10	4	OR51F1	11	4790217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86928	4790217	130216299	11682	21999											
OR52R1	119695	broad.mit.edu	37	chr11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaccaacttcagcacagCcatgtgctcacagtatgact	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000356069.2	-	1	555	c.556G>A	c.(556-558)Gct>Act	p.A186T	OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(793-795)Gct>Act		olfactory receptor, family 52, subfamily R, member 1							169	129	143					11																	4825055		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825055C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.556G>A	11.37:g.4825055C>T	ENSP00000348368:p.Ala186Thr					OR52R1_ENST00000356069.2_Missense_Mutation_p.A186T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.A265T			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	792	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	186					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.793G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00130	8.69;8.69	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00666	0.0022	M	0.93462	3.42	0.31836	N	0.624071	D	0.76494	0.999	D	0.76071	0.987	T	0.06197	-1.0840	10	0.87932	D	0	.	14.3226	0.66496	0.1497:0.8503:0.0:0.0	.	186	Q8NGF1	O52R1_HUMAN	T	186;265	ENSP00000348368:A186T;ENSP00000369742:A265T	ENSP00000348368:A186T	A	-	1	0	OR52R1	4781631	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.389000	0.20751	1.505000	0.48720	0.650000	0.86243	GCT		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		95	382	0	0	0	1	0	95	382					T	4825055	C	T	4825055	3	4	79	1	0	0	0	0	1	0	0	0	11173	739	26	2	394	2	OR52R1	11	4825055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34838	4825055	130181461	11683	22000											
OR51T1	401665	broad.mit.edu	37	chr11	4903513	4903513	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaccgcttcgtggctatCtgtaacccactgaactatgc	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(463-465)atC>atT		olfactory receptor, family 51, subfamily T, member 1							151	128	136					11																	4903513		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903513C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.384C>T	11.37:g.4903513C>T						MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I|MMP26_ENST00000477339.1_Intron	p.I155I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	465	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	128					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.465C>T																																																																																					0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		89	434	0	0	0	1	0	89	434					T	4903513	C	T	4903513	2	4	79	1	0	0	0	0	0	0	0	1	11148	903	32	2		2	OR51T1	11	4903513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78458	4903513	130103003	11684	22001											
OR51T1	401665	broad.mit.edu	37	chr11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacgtattgtttattcttttCtcctatgtcctgatcctccg	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000322049.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATTCTTTTCTCCTATGTCC	0.438																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(733-735)ttC>ttA		olfactory receptor, family 51, subfamily T, member 1							96	88	91					11																	4903783		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903783C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.654C>A	11.37:g.4903783C>A	ENSP00000322679:p.Phe218Leu					MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.F218L|MMP26_ENST00000477339.1_Intron	p.F245L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	735	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	218					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.735C>A		.	.	.	.	.	.	.	.	.	.	C	2.468	-0.322523	0.05350	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37584	1.19;1.19	4.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.671673	0.13049	N	0.417881	T	0.10508	0.0257	N	0.02111	-0.68	0.33486	D	0.588027	B	0.09022	0.002	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	4.0786	0.09916	0.2879:0.4944:0.1396:0.0781	.	218	Q8NGJ9	O51T1_HUMAN	L	245;218	ENSP00000369738:F245L;ENSP00000322679:F218L	ENSP00000322679:F218L	F	+	3	2	OR51T1	4860359	0.003000	0.15002	1.000000	0.80357	0.951000	0.60555	-0.511000	0.06321	0.273000	0.22049	0.484000	0.47621	TTC		0.438	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		56	284	1	0	1.46357e-32	1	1.7291e-32	56	284					A	4903783	C	A	4903783	3	1	79	1	0	0	0	0	1	0	0	0	11148	912	32	3	737	3	OR51T1	11	4903783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	4903783	130102733	11685	22002											
OR51A7	119687	broad.mit.edu	37	chr11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgcatctttggcagagaGgcttaaggccctaaatacct	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(697-699)aGg>aTg		olfactory receptor, family 51, subfamily A, member 7							238	205	216					11																	4929297		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929297G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.698G>T	11.37:g.4929297G>T	ENSP00000352305:p.Arg233Met					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R233M	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	698	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	233					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.698G>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734199	0.30684	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.46451	0.87	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.66607	0.2806	M	0.93283	3.4	0.09310	N	1	D	0.60575	0.988	P	0.60286	0.872	T	0.63541	-0.6614	10	0.87932	D	0	.	10.1619	0.42858	0.1499:0.0:0.8501:0.0	.	233	Q8NH64	O51A7_HUMAN	M	233;233;222	ENSP00000352305:R233M	ENSP00000352305:R233M	R	+	2	0	OR51A7	4885873	0.007000	0.16637	0.666000	0.29783	0.234000	0.25298	1.580000	0.36547	2.596000	0.87737	0.655000	0.94253	AGG		0.473	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		124	624	1	0	7.11685e-60	1	8.9425e-60	124	624					T	4929297	G	T	4929297	3	4	79	1	0	0	0	0	1	0	0	0	11130	1000	35	3	700	3	OR51A7	11	4929297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25514	4929297	130077219	11686	22003											
MMP26	56547	broad.mit.edu	37	chr11	5009471	5009471	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcatcttaagagttactatCttcttgccctggtgtttcgc	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	10					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GAGTTACTATCTTCTTGCCCT	0.488											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(28-30)atC>atA		matrix metallopeptidase 26							307	242	264					11																	5009471		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009471C>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.30C>A	11.37:g.5009471C>A			OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	623	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Silent_p.I10I	p.I10I			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	246	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	10					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.30C>A	CCDS7752.1																																																																																				0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		98	490	1	0	7.036e-43	1	8.57727e-43	98	490					A	5009471	C	A	5009471	2	1	79	1	0	0	0	0	0	0	0	1	9704	903	32	3		3	MMP26	11	5009471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80174	5009471	129997045	11687	22004											
MMP26	56547	broad.mit.edu	37	chr11	5011082	5011082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcaagtggaataagCacactctaacttacaggtgc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	ENST00000380390.1	+	3	520	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	102					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTGGAATAAGCACACTCTAAC	0.527																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(304-306)Cac>Tac		matrix metallopeptidase 26							63	53	56					11																	5011082		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5011082C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.304C>T	11.37:g.5011082C>T	ENSP00000369753:p.His102Tyr					MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y	p.H102Y			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	520	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	102					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.304C>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518199	0.13005	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.73	-4.56	0.03431	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.474640	0.04758	N	0.425797	T	0.13072	0.0317	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	9	.	.	.	0.2539	2.7916	0.05390	0.2437:0.4949:0.1324:0.129	.	102	Q9NRE1	MMP26_HUMAN	Y	102	ENSP00000369753:H102Y;ENSP00000300762:H102Y	.	H	+	1	0	MMP26	4967658	0.001000	0.12720	0.219000	0.23793	0.016000	0.09150	1.163000	0.31798	-0.861000	0.04094	-1.181000	0.01715	CAC		0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		8	159	0	0	0	1	0	8	159					T	5011082	C	T	5011082	3	4	79	1	0	0	0	0	1	0	0	0	9704	710	25	2	310	2	MMP26	11	5011082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1611	5011082	129995434	11688	22005											
MMP26	56547	broad.mit.edu	37	chr11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcattctttgggcctgcaGcactctgggaatcagagctc	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	217					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGGGCCTGCAGCACTCTGGGA	0.413																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(649-651)caG>caT		matrix metallopeptidase 26							69	65	66					11																	5013249		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013249G>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.651G>T	11.37:g.5013249G>T	ENSP00000369753:p.Gln217His					MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H	p.Q217H			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	6	867	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	217					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.651G>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944724	0.02304	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21543	2.0;2.0	3.79	-3.17	0.05202	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.533080	0.00669	N	0.000629	T	0.11965	0.0291	N	0.16708	0.43	0.09310	N	0.999991	B	0.21381	0.055	B	0.30646	0.118	T	0.15464	-1.0436	10	0.12766	T	0.61	5.7276	2.8457	0.05542	0.2533:0.4746:0.1499:0.1222	.	217	Q9NRE1	MMP26_HUMAN	H	217	ENSP00000369753:Q217H;ENSP00000300762:Q217H	ENSP00000300762:Q217H	Q	+	3	2	MMP26	4969825	0.000000	0.05858	0.003000	0.11579	0.472000	0.32918	-3.215000	0.00554	-0.410000	0.07542	-0.305000	0.09177	CAG		0.413	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		39	208	1	0	4.0492e-12	1	4.34013e-12	39	208					T	5013249	G	T	5013249	3	4	79	1	0	0	0	0	1	0	0	0	9704	962	34	3	669	3	MMP26	11	5013249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2167	5013249	129993267	11689	22006											
MMP26	56547	broad.mit.edu	37	chr11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccttccagctcagtgCcgatgatatccaaaggatcc	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	242					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAGCTCAGTGCCGATGATATC	0.473																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(724-726)gCc>gTc		matrix metallopeptidase 26							86	76	79					11																	5013323		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013323C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.725C>T	11.37:g.5013323C>T	ENSP00000369753:p.Ala242Val					MMP26_ENST00000300762.1_Missense_Mutation_p.A242V	p.A242V			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	6	941	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	242					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.725C>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186778	0.09547	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21361	2.01;2.01	3.67	-7.35	0.01422	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.244940	0.01367	N	0.012424	T	0.09247	0.0228	N	0.13003	0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.18710	T	0.47	2.2155	2.3356	0.04247	0.4996:0.2435:0.0974:0.1596	.	242	Q9NRE1	MMP26_HUMAN	V	242	ENSP00000369753:A242V;ENSP00000300762:A242V	ENSP00000300762:A242V	A	+	2	0	MMP26	4969899	0.000000	0.05858	0.023000	0.16930	0.100000	0.18952	0.191000	0.17076	-2.462000	0.00535	-0.310000	0.09108	GCC		0.473	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		23	279	0	0	0	1	0	23	279					T	5013323	C	T	5013323	3	4	79	1	0	0	0	0	1	0	0	0	9704	739	26	2	743	2	MMP26	11	5013323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	5013323	129993193	11690	22007											
OR52E2	119678	broad.mit.edu	37	chr11	5079958	5079958	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttcttcacacatttataGatctgcttggttctgactcc	5	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(898-900)atC>atA		olfactory receptor, family 52, subfamily E, member 2							68	68	68					11																	5079958		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5079958G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.900C>A	11.37:g.5079958G>T							p.I300I	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	899	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	300						Silent	SNP	ENST00000321522.2	37	c.900C>A	CCDS31371.1																																																																																				0.383	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		66	245	1	0	2.60599e-31	1	3.06669e-31	66	245					T	5079958	G	T	5079958	2	4	79	1	0	0	0	0	0	0	0	1	11157	932	33	3		3	OR52E2	11	5079958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66635	5079958	129926558	11691	22008											
OR52A5	390054	broad.mit.edu	37	chr11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgggactaacaggtaaaGatttgacaagaggatatgaa	13	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					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)			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)		AACAGGTAAAGATTTGACAAG	0.383																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(844-846)Ctt>Ttt		olfactory receptor, family 52, subfamily A, member 5							149	144	146					11																	5153029		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153029G>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.844C>T	11.37:g.5153029G>A	ENSP00000303469:p.Leu282Phe						p.L282F	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	843	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	282						Missense_Mutation	SNP	ENST00000307388.1	37	c.844C>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380793	0.24944	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.00241	0.0007	M	0.64080	1.96	0.35217	D	0.775657	B	0.18610	0.029	B	0.27887	0.084	T	0.59553	-0.7433	10	0.51188	T	0.08	.	12.1449	0.54018	0.0:0.0:0.6904:0.3096	.	282	Q9H2C5	O52A5_HUMAN	F	282	ENSP00000303469:L282F	ENSP00000303469:L282F	L	-	1	0	OR52A5	5109605	0.000000	0.05858	0.772000	0.31596	0.745000	0.42441	-1.550000	0.02180	1.288000	0.44600	0.655000	0.94253	CTT		0.383	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		68	295	0	0	0	1	0	68	295					A	5153029	G	A	5153029	3	1	79	1	0	0	0	0	1	0	0	0	11152	942	33	2	109	2	OR52A5	11	5153029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73071	5153029	129853487	11692	22009											
OR52A1	23538	broad.mit.edu	37	chr11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataatgctgctagcaagtgCaatgtctgtggctcctagca	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	74					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(220-222)Gca>Aca		olfactory receptor, family 52, subfamily A, member 1							74	67	69					11																	5173380		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173380C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.220G>A	11.37:g.5173380C>T	ENSP00000369725:p.Ala74Thr					OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T	p.A74T			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	637	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	74					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.220G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657534	0.29425	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00402	7.56;7.56	5.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.806400	0.10768	N	0.636328	T	0.00384	0.0012	L	0.52823	1.66	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.40021	-0.9585	10	0.45353	T	0.12	.	8.5773	0.33605	0.271:0.6566:0.0:0.0724	.	74	Q9UKL2	O52A1_HUMAN	T	74	ENSP00000369725:A74T;ENSP00000333684:A74T	ENSP00000333684:A74T	A	-	1	0	OR52A1	5129956	0.000000	0.05858	0.328000	0.25416	0.711000	0.40976	0.037000	0.13840	0.380000	0.24823	0.655000	0.94253	GCA		0.418	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		40	167	0	0	0	1	0	40	167					T	5173380	C	T	5173380	3	4	79	1	0	0	0	0	1	0	0	0	11150	710	25	2	720	2	OR52A1	11	5173380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20351	5173380	129833136	11693	22010											
OR51V1	283111	broad.mit.edu	37	chr11	5221325	5221325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcatagtaactattgaaTcggatgtctgaacaggctaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTATTGAATCGGATGTCTG	0.413																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(604-606)cgA>cgG		olfactory receptor, family 51, subfamily V, member 1							58	55	56					11																	5221325		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221325T>C	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.606A>G	11.37:g.5221325T>C							p.R202R	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	605	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	202						Silent	SNP	ENST00000321255.1	37	c.606A>G	CCDS31375.1																																																																																				0.413	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		14	337	0	0	0	1	0	14	337					C	5221325	T	C	5221325	2	2	79	1	0	0	0	0	0	0	0	1	11149	1422	50	4		4	OR51V1	11	5221325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47945	5221325	129785191	11694	22011											
OR51V1	283111	broad.mit.edu	37	chr11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactccatgaaggacagaCcatggatgaaataggactgg	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	115					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(343-345)gGt>gAt		olfactory receptor, family 51, subfamily V, member 1							59	58	58					11																	5221587		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221587C>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.344G>A	11.37:g.5221587C>T	ENSP00000321729:p.Gly115Asp						p.G115D	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	343	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	115						Missense_Mutation	SNP	ENST00000321255.1	37	c.344G>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888099	0.52014	.	.	ENSG00000176742	ENST00000321255	T	0.02709	4.19	5.48	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.141905	0.32134	N	0.006537	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18777	-1.0326	10	0.35671	T	0.21	.	2.7779	0.05352	0.1462:0.5646:0.1419:0.1473	.	115	Q9H2C8	O51V1_HUMAN	D	115	ENSP00000321729:G115D	ENSP00000321729:G115D	G	-	2	0	OR51V1	5178163	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	0.025000	0.13577	0.881000	0.35993	0.650000	0.86243	GGT		0.502	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		41	201	0	0	0	1	0	41	201					T	5221587	C	T	5221587	3	4	79	1	0	0	0	0	1	0	0	0	11149	507	18	2	624	2	OR51V1	11	5221587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	5221587	129784929	11695	22012											
OR51V1	283111	broad.mit.edu	37	chr11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatggcatagattgaggaGaaggggatggaaagccaggg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	40					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(118-120)ttC>ttA		olfactory receptor, family 51, subfamily V, member 1							121	112	115					11																	5221811		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221811G>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.120C>A	11.37:g.5221811G>T	ENSP00000321729:p.Phe40Leu						p.F40L	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	119	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	40						Missense_Mutation	SNP	ENST00000321255.1	37	c.120C>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770548	0.15983	.	.	ENSG00000176742	ENST00000321255	T	0.00566	6.55	5.16	1.21	0.21127	.	0.169863	0.28187	U	0.016269	T	0.00468	0.0015	L	0.52573	1.65	0.23972	N	0.996304	B	0.16802	0.019	B	0.20384	0.029	T	0.46428	-0.9192	10	0.19147	T	0.46	.	4.9654	0.14087	0.4101:0.1459:0.4439:0.0	.	40	Q9H2C8	O51V1_HUMAN	L	40	ENSP00000321729:F40L	ENSP00000321729:F40L	F	-	3	2	OR51V1	5178387	0.001000	0.12720	0.597000	0.28824	0.389000	0.30415	-0.311000	0.08124	0.068000	0.16574	0.650000	0.86243	TTC		0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		80	332	1	0	8.2577e-42	1	1.00413e-41	80	332					T	5221811	G	T	5221811	3	4	79	1	0	0	0	0	1	0	0	0	11149	933	33	3	848	3	OR51V1	11	5221811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	5221811	129784705	11696	22013											
HBB	3043	broad.mit.edu	37	chr11	5248009	5248009	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaaagaacctctgggtcCaagggtagaccaccagcagc	10	13	2	2	rs33991059|rs63750532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	ENST00000335295.4	-	2	162	c.113G>A	c.(112-114)tGg>tAg	p.W38*	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	38			W -> G (in Howick). {ECO:0000269|PubMed:8144352}.|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCTCTGGGTCCAAGGGTAGAC	0.522									Sickle Cell Trait																													ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CM950613	HBB	M	rs33991059	c.(112-114)tGg>tAg		hemoglobin, beta	Iron Dextran(DB00893)						87	86	87					11																	5248009		2201	4298	6499	SO:0001587	stop_gained	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248009C>T	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.113G>A	11.37:g.5248009C>T	ENSP00000333994:p.Trp38*						p.W38*	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	288	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	38		W -> G (in Howick).|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Nonsense_Mutation	SNP	ENST00000335295.4	37	c.113G>A	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	37	6.631953	0.97722	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8281	17.6123	0.88058	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000333994:W38X	W	-	2	0	HBB	5204585	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.308000	0.65768	2.812000	0.96745	0.555000	0.69702	TGG		0.522	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		69	307	0	0	0	1	0	69	307					T	5248009	C	T	5248009	4	4	79	1	0	0	0	0	0	1	0	0	7008	595	21	2	338	2	HBB	11	5248009	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26198	5248009	129758507	11697	22014											
OR51B4	79339	broad.mit.edu	37	chr11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggccagtgaatgaaTgaaggattgggtgaaacagg	14	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	101					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)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAATGAATGAAGGATTGG	0.493																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(301-303)Att>Gtt		olfactory receptor, family 51, subfamily B, member 4							154	140	145					11																	5322876		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322876T>C	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.301A>G	11.37:g.5322876T>C	ENSP00000369573:p.Ile101Val					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.I101V	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	350	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	101					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.301A>G	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415455	0.11870	.	.	ENSG00000183251	ENST00000380224	T	0.37058	1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.26521	0.0648	L	0.31371	0.925	0.23227	N	0.998081	B	0.30824	0.296	B	0.33454	0.164	T	0.22906	-1.0203	10	0.66056	D	0.02	.	8.086	0.30773	0.1803:0.0:0.0:0.8196	.	101	Q9Y5P0	O51B4_HUMAN	V	101	ENSP00000369573:I101V	ENSP00000369573:I101V	I	-	1	0	OR51B4	5279452	0.744000	0.28250	0.465000	0.27155	0.004000	0.04260	0.779000	0.26746	1.806000	0.52798	0.533000	0.62120	ATT		0.493	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		57	328	0	0	0	1	0	57	328					C	5322876	T	C	5322876	3	2	79	1	0	0	0	0	1	0	0	0	11132	1464	51	4	634	4	OR51B4	11	5322876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74867	5322876	129683640	11698	22015											
OR51B5	282763	broad.mit.edu	37	chr11	5364599	5364599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtacatgggctcatgaagAttgtgatcttccttaatgag	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_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	52					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)			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)		GCTCATGAAGATTGTGATCTT	0.502																																						ENST00000300773.2																			0				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						c.(154-156)aaT>aaC		olfactory receptor, family 51, subfamily B, member 5							66	71	69					11																	5364599		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364599A>G	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.156T>C	11.37:g.5364599A>G						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.N52N	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	210	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	52					B2RN59	Silent	SNP	ENST00000300773.2	37	c.156T>C	CCDS31378.1																																																																																				0.502	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		62	244	0	0	0	1	0	62	244					G	5364599	A	G	5364599	2	3	79	1	0	0	0	0	0	0	0	1	11133	330	12	4		4	OR51B5	11	5364599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41723	5364599	129641917	11699	22016											
OR51M1	390059	broad.mit.edu	37	chr11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatggactgatggtggTagttttcactgtgatgctgg	14	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	215					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)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGTGGTAGTTTTCACT	0.537																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(643-645)gTa>gCa		olfactory receptor, family 51, subfamily M, member 1							144	138	140					11																	5411272		2046	4197	6243	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411272T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.644T>C	11.37:g.5411272T>C	ENSP00000333196:p.Val215Ala					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V215A	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	666	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	215					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.644T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116938	0.37339	.	.	ENSG00000184698	ENST00000328611	T	0.35973	1.28	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.756085	0.10422	U	0.676577	T	0.42585	0.1209	N	0.13327	0.33	0.27101	N	0.962615	P	0.51653	0.947	P	0.62885	0.908	T	0.41378	-0.9512	10	0.45353	T	0.12	.	13.7333	0.62802	0.0:0.0:0.0:1.0	.	204	Q9H341	O51M1_HUMAN	A	215	ENSP00000333196:V215A	ENSP00000333196:V215A	V	+	2	0	OR51M1	5367848	0.000000	0.05858	0.414000	0.26521	0.007000	0.05969	-0.009000	0.12765	2.116000	0.64780	0.533000	0.62120	GTA		0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		75	320	0	0	0	1	0	75	320					C	5411272	T	C	5411272	3	2	79	1	0	0	0	0	1	0	0	0	11145	1638	57	4	646	4	OR51M1	11	5411272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46673	5411272	129595244	11700	22017											
OR51M1	390059	broad.mit.edu	37	chr11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccacctgctattcatcttCttatggccaatgtctacctt	4	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	287					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)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCATCTTCTTATGGCCAA	0.498																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(859-861)Ctt>Ttt		olfactory receptor, family 51, subfamily M, member 1							60	53	55					11																	5411487		2010	4191	6201	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411487C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.859C>T	11.37:g.5411487C>T	ENSP00000333196:p.Leu287Phe					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L287F	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	881	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	287					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.859C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837469	0.16891	.	.	ENSG00000184698	ENST00000328611	T	0.00152	8.66	5.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.646517	0.11717	U	0.536311	T	0.00144	0.0004	L	0.42581	1.335	0.21386	N	0.9997	B	0.18310	0.027	B	0.30316	0.114	T	0.16837	-1.0389	10	0.44086	T	0.13	.	6.9332	0.24453	0.0:0.5769:0.2697:0.1535	.	276	Q9H341	O51M1_HUMAN	F	287	ENSP00000333196:L287F	ENSP00000333196:L287F	L	+	1	0	OR51M1	5368063	0.000000	0.05858	0.454000	0.27019	0.617000	0.37484	-1.505000	0.02273	0.364000	0.24374	0.655000	0.94253	CTT		0.498	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		33	143	0	0	0	1	0	33	143					T	5411487	C	T	5411487	3	4	79	1	0	0	0	0	1	0	0	0	11145	913	32	2	861	2	OR51M1	11	5411487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	5411487	129595029	11701	22018											
OR51Q1	390061	broad.mit.edu	37	chr11	5443517	5443517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcctcccacatctggatCtccatccccgtctgctgtct	8	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(85-87)atC>atT		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							306	236	260					11																	5443517		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443517C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.87C>T	11.37:g.5443517C>T						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.I29I	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	177	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29					B2RNN1	Silent	SNP	ENST00000300778.4	37	c.87C>T	CCDS31381.1																																																																																				0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		30	836	0	0	0	1	0	30	836					T	5443517	C	T	5443517	2	4	79	1	0	0	0	0	0	0	0	1	11146	903	32	2		2	OR51Q1	11	5443517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32030	5443517	129562999	11702	22019											
OR51Q1	390061	broad.mit.edu	37	chr11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcatgcctctccactggTccatgttatcatggccaata	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(820-822)gTc>gCc		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							117	100	106					11																	5444251		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444251T>C	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.821T>C	11.37:g.5444251T>C	ENSP00000300778:p.Val274Ala					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V274A	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	911	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	274					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.821T>C	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843174	0.51057	.	.	ENSG00000167360	ENST00000300778	T	0.00099	8.73	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.123758	0.36444	N	0.002588	T	0.00384	0.0012	L	0.60012	1.86	0.24171	N	0.995622	D	0.89917	1.0	D	0.85130	0.997	T	0.58329	-0.7655	10	0.54805	T	0.06	.	13.606	0.62048	0.0:0.0:0.0:1.0	.	274	Q8NH59	O51Q1_HUMAN	A	274	ENSP00000300778:V274A	ENSP00000300778:V274A	V	+	2	0	OR51Q1	5400827	0.002000	0.14202	1.000000	0.80357	0.866000	0.49608	1.311000	0.33562	2.089000	0.63090	0.311000	0.20440	GTC		0.473	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		21	400	0	0	0	1	0	21	400					C	5444251	T	C	5444251	3	2	79	1	0	0	0	0	1	0	0	0	11146	1667	58	4	823	4	OR51Q1	11	5444251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	734	5444251	129562265	11703	22020											
OR51I2	390064	broad.mit.edu	37	chr11	5475109	5475109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatttgtgaccccttgCgctatgcaactgtgctcacc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475109C>T	ENST00000341449.2	+	1	472	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	131					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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCTTGCGCTATGCAAC	0.453																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(391-393)Cgc>Tgc		olfactory receptor, family 51, subfamily I, member 2							151	141	145					11																	5475109		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475109C>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.391C>T	11.37:g.5475109C>T	ENSP00000341987:p.Arg131Cys					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.R131C	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	472	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	131					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.391C>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621233	0.46736	.	.	ENSG00000187918	ENST00000341449	T	0.43294	0.95	5.58	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.633514	0.15660	N	0.250972	T	0.47488	0.1448	M	0.88377	2.95	0.30139	N	0.804088	D	0.54397	0.966	B	0.41271	0.352	T	0.61158	-0.7119	10	0.87932	D	0	.	8.0418	0.30526	0.2645:0.6605:0.0:0.0749	.	131	Q9H344	O51I2_HUMAN	C	131	ENSP00000341987:R131C	ENSP00000341987:R131C	R	+	1	0	OR51I2	5431685	0.015000	0.18098	0.666000	0.29783	0.725000	0.41563	0.265000	0.18515	1.596000	0.50062	0.655000	0.94253	CGC		0.453	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		110	504	0	0	0	1	0	110	504					T	5475109	C	T	5475109	3	4	79	1	0	0	0	0	1	0	0	0	11143	768	27	1	393	1	OR51I2	11	5475109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30858	5475109	129531407	11704	22021											
OR51I2	390064	broad.mit.edu	37	chr11	5475516	5475516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcaccgctttgggaaGcatgtcccatgctacataca	9	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	266					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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGGAAGCATGTCCCAT	0.468																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(796-798)aaG>aaA		olfactory receptor, family 51, subfamily I, member 2							220	187	198					11																	5475516		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475516G>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.798G>A	11.37:g.5475516G>A						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K266K	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	879	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	266					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.798G>A	CCDS31383.1																																																																																				0.468	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		157	624	0	0	0	1	0	157	624					A	5475516	G	A	5475516	2	1	79	1	0	0	0	0	0	0	0	1	11143	962	34	2		2	OR51I2	11	5475516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407	5475516	129531000	11705	22022											
OR52D1	390066	broad.mit.edu	37	chr11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaactgcttcacctggggAagacttcaatatgaatgctg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	315					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTGGGGAAGACTTCAAT	0.413																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(943-945)Aag>Gag		olfactory receptor, family 52, subfamily D, member 1							59	58	58					11																	5510879		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510879A>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.943A>G	11.37:g.5510879A>G	ENSP00000326232:p.Lys315Glu					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K315E	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	965	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	315					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.943A>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887179	0.33348	.	.	ENSG00000181609	ENST00000322641	T	0.40225	1.04	4.91	2.5	0.30297	.	0.193296	0.36234	N	0.002711	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.27380	0.079	T	0.18871	-1.0323	10	0.62326	D	0.03	.	4.5443	0.12073	0.7392:0.0:0.0921:0.1687	.	315	Q9H346	O52D1_HUMAN	E	315	ENSP00000326232:K315E	ENSP00000326232:K315E	K	+	1	0	OR52D1	5467455	0.009000	0.17119	0.001000	0.08648	0.073000	0.16967	1.179000	0.31993	0.414000	0.25790	0.533000	0.62120	AAG		0.413	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		86	274	0	0	0	1	0	86	274					G	5510879	A	G	5510879	3	3	79	1	0	0	0	0	1	0	0	0	11156	247	9	4	945	4	OR52D1	11	5510879	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35363	5510879	129495637	11706	22023											
UBQLN3	50613	broad.mit.edu	37	chr11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaactgctcctggactgCgttaagcattgggtccataa	10	11	0	0	rs144033515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(802-804)Gca>Aca		ubiquilin 3			THR/ALA	0,4402		0,0,2201	122	106	112		802	5.6	1	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529987C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr					HBG2_ENST00000380259.2_Intron	p.A268T	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	949	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	268					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.802G>A	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		103	464	0	0	0	1	0	103	464					T	5529987	C	T	5529987	3	4	79	1	0	0	0	0	1	0	0	0	16952	768	27	1	1169	1	UBQLN3	11	5529987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19108	5529987	129476529	11707	22024											
UBQLN3	50613	broad.mit.edu	37	chr11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgagcacccggtcctggCtacgtatcatctcctgcatc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	236										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCCTGGCTACGTATCAT	0.478																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(706-708)aGc>aAc		ubiquilin 3							91	86	88					11																	5530082		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530082C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.707G>A	11.37:g.5530082C>T	ENSP00000347997:p.Ser236Asn					HBG2_ENST00000380259.2_Intron	p.S236N	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	854	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	236					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.707G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943531	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000042	T	0.19248	0.0462	L	0.31526	0.94	0.38581	D	0.950182	B	0.24721	0.11	B	0.24848	0.056	T	0.05886	-1.0858	10	0.05833	T	0.94	-16.6012	10.726	0.46068	0.0:0.913:0.0:0.087	.	236	Q9H347	UBQL3_HUMAN	N	236	ENSP00000347997:S236N	ENSP00000347997:S236N	S	-	2	0	UBQLN3	5486658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.750000	0.94351	0.591000	0.81541	AGC		0.478	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		97	409	0	0	0	1	0	97	409					T	5530082	C	T	5530082	3	4	79	1	0	0	0	0	1	0	0	0	16952	797	28	2	1264	2	UBQLN3	11	5530082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	5530082	129476434	11708	22025											
UBQLN3	50613	broad.mit.edu	37	chr11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttggacagcagacccgggAtgaaggggtcatcaatgagc	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	177										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACCCGGGATGAAGGGGTC	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(529-531)aTc>aAc		ubiquilin 3							71	70	70					11																	5530259		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530259A>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.530T>A	11.37:g.5530259A>T	ENSP00000347997:p.Ile177Asn					HBG2_ENST00000380259.2_Intron	p.I177N	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	677	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	177					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.530T>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115612	0.77323	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54279	1.13;0.58	5.55	5.55	0.83447	.	0.000000	0.48286	D	0.000187	T	0.70789	0.3264	M	0.87682	2.9	0.47862	D	0.999531	D	0.54397	0.966	P	0.55667	0.781	T	0.77236	-0.2662	10	0.87932	D	0	-9.9209	13.9369	0.64029	1.0:0.0:0.0:0.0	.	177	Q9H347	UBQL3_HUMAN	N	177	ENSP00000347997:I177N;ENSP00000412561:I177N	ENSP00000347997:I177N	I	-	2	0	UBQLN3	5486835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.344000	0.59354	2.238000	0.73509	0.477000	0.44152	ATC		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		64	355	0	0	0	1	0	64	355					T	5530259	A	T	5530259	3	4	79	1	0	0	0	0	1	0	0	0	16952	333	12	5	1441	5	UBQLN3	11	5530259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	5530259	129476257	11709	22026											
UBQLN3	50613	broad.mit.edu	37	chr11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagggagtgatccaggaCttgggccctgggtagggaca	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCCAGGACTTGGGCCCTG	0.617																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(337-339)aGt>aTt		ubiquilin 3							70	65	67					11																	5530451		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530451C>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.338G>T	11.37:g.5530451C>A	ENSP00000347997:p.Ser113Ile					HBG2_ENST00000380259.2_Intron	p.S113I	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	485	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	113					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.338G>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630625	0.46944	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54675	1.09;0.56	5.45	3.45	0.39498	.	0.408439	0.20954	N	0.082692	T	0.50956	0.1646	M	0.73962	2.25	0.09310	N	1	B	0.21753	0.06	B	0.26864	0.074	T	0.52041	-0.8628	10	0.62326	D	0.03	.	7.4533	0.27250	0.0:0.7333:0.1697:0.097	.	113	Q9H347	UBQL3_HUMAN	I	113	ENSP00000347997:S113I;ENSP00000412561:S113I	ENSP00000347997:S113I	S	-	2	0	UBQLN3	5487027	0.074000	0.21230	0.798000	0.32154	0.956000	0.61745	0.516000	0.22817	1.393000	0.46605	0.585000	0.79938	AGT		0.617	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		34	188	1	0	3.11337e-16	1	3.41587e-16	34	188					A	5530451	C	A	5530451	3	1	79	1	0	0	0	0	1	0	0	0	16952	565	20	3	1633	3	UBQLN3	11	5530451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	5530451	129476065	11710	22027											
UBQLNL	143630	broad.mit.edu	37	chr11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcctccaaaaggatcTtgcatgctgttcagcatttg	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(856-858)caA>caC		ubiquilin-like							114	105	108					11																	5536814		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536814T>G	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.858A>C	11.37:g.5536814T>G	ENSP00000369531:p.Gln286His					HBG2_ENST00000380259.2_Intron	p.Q286H	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1121	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	286					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.858A>C	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868898	0.17322	.	.	ENSG00000175518	ENST00000380184	T	0.54279	0.58	5.09	-3.75	0.04372	.	0.899723	0.09404	N	0.806765	T	0.37183	0.0994	L	0.49778	1.585	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39482	-0.9612	10	0.56958	D	0.05	.	0.7817	0.01041	0.4531:0.1873:0.1344:0.2252	.	286	Q8IYU4	UBQLN_HUMAN	H	286	ENSP00000369531:Q286H	ENSP00000369531:Q286H	Q	-	3	2	UBQLNL	5493390	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	-1.914000	0.01579	-0.550000	0.06183	0.533000	0.62120	CAA		0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		67	253	0	0	0	1	0	67	253					G	5536814	T	G	5536814	3	3	79	1	0	0	0	0	1	0	0	0	16954	1606	56	4	573	4	UBQLNL	11	5536814	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6363	5536814	129469702	11711	22028											
UBQLNL	143630	broad.mit.edu	37	chr11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagaaggcgggaaacttCtgggttctgctgcatcaatt	12	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(628-630)Gaa>Aaa		ubiquilin-like							128	131	130					11																	5537044		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537044C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.628G>A	11.37:g.5537044C>T	ENSP00000369531:p.Glu210Lys					HBG2_ENST00000380259.2_Intron	p.E210K	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	891	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	210					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.628G>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087164	0.36855	.	.	ENSG00000175518	ENST00000380184	T	0.59083	0.29	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000085	T	0.78142	0.4237	M	0.87682	2.9	0.48571	D	0.999671	D	0.89917	1.0	D	0.80764	0.994	T	0.81837	-0.0749	10	0.87932	D	0	.	13.8389	0.63426	0.0:1.0:0.0:0.0	.	210	Q8IYU4	UBQLN_HUMAN	K	210	ENSP00000369531:E210K	ENSP00000369531:E210K	E	-	1	0	UBQLNL	5493620	0.995000	0.38212	1.000000	0.80357	0.042000	0.13812	4.775000	0.62346	2.615000	0.88500	0.650000	0.86243	GAA		0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		145	639	0	0	0	1	0	145	639					T	5537044	C	T	5537044	3	4	79	1	0	0	0	0	1	0	0	0	16954	922	32	2	803	2	UBQLNL	11	5537044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230	5537044	129469472	11712	22029											
UBQLNL	143630	broad.mit.edu	37	chr11	5537124	5537124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatgttggacagaagcCgctggatgctaggattctcc	11	11	1	1	rs557573869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537124C>T	ENST00000380184.1	-	1	811	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	183										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACAGAAGCCGCTGGATGCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22566	0.001		0.0	False		,,,				2504	0.0					ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(547-549)cGg>cAg		ubiquilin-like							115	114	114					11																	5537124		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537124C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.548G>A	11.37:g.5537124C>T	ENSP00000369531:p.Arg183Gln					HBG2_ENST00000380259.2_Intron	p.R183Q	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	811	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	183					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.548G>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.930198	0.18131	.	.	ENSG00000175518	ENST00000380184	T	0.43688	0.94	4.86	0.362	0.16113	.	0.520058	0.16070	N	0.231065	T	0.17023	0.0409	N	0.04636	-0.2	0.21020	N	0.9998	B	0.13594	0.008	B	0.06405	0.002	T	0.22452	-1.0216	10	0.21014	T	0.42	.	7.0333	0.24979	0.0:0.536:0.0:0.464	.	183	Q8IYU4	UBQLN_HUMAN	Q	183	ENSP00000369531:R183Q	ENSP00000369531:R183Q	R	-	2	0	UBQLNL	5493700	0.068000	0.21057	0.042000	0.18584	0.801000	0.45260	-0.297000	0.08276	-0.072000	0.12864	0.650000	0.86243	CGG		0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		24	595	0	0	0	1	0	24	595					T	5537124	C	T	5537124	3	4	79	1	0	0	0	0	1	0	0	0	16954	652	23	1	883	1	UBQLNL	11	5537124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	5537124	129469392	11713	22030											
OR52H1	390067	broad.mit.edu	37	chr11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagatatcagcacaggCgagctgggcaacacctatat	12	9	1	1	rs202105878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACAGGCGAGCTGGGCA	0.483																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(586-588)Gcc>Acc		olfactory receptor, family 52, subfamily H, member 1							131	102	112					11																	5566168		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566168C>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.586G>A	11.37:g.5566168C>T	ENSP00000326259:p.Ala196Thr					HBG2_ENST00000380259.2_Intron	p.A196T	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	611	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	196					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.586G>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479877	0.44044	.	.	ENSG00000181616	ENST00000322653	T	0.00193	8.58	5.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.327597	0.25978	N	0.027090	T	0.00580	0.0019	M	0.87180	2.865	0.09310	N	1	D	0.61697	0.99	P	0.60117	0.869	T	0.41016	-0.9532	10	0.87932	D	0	.	15.5505	0.76148	0.1474:0.8526:0.0:0.0	.	196	Q8NGJ2	O52H1_HUMAN	T	196	ENSP00000326259:A196T	ENSP00000326259:A196T	A	-	1	0	OR52H1	5522744	0.000000	0.05858	0.953000	0.39169	0.510000	0.34073	-0.025000	0.12413	2.511000	0.84671	0.650000	0.86243	GCC		0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		51	247	0	0	0	1	0	51	247					T	5566168	C	T	5566168	3	4	79	1	0	0	0	0	1	0	0	0	11161	768	27	1	379	1	OR52H1	11	5566168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29044	5566168	129440348	11714	22031											
OR52B6	340980	broad.mit.edu	37	chr11	5602224	5602224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactggcatccctgggCtggagcaactacatatctgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(118-120)Ctg>Ttg		olfactory receptor, family 52, subfamily B, member 6							100	101	101					11																	5602224		2155	4271	6426	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602224C>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.118C>T	11.37:g.5602224C>T						HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.L40L	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	118	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	40					Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.118C>T	CCDS41611.1																																																																																				0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		55	259	0	0	0	1	0	55	259					T	5602224	C	T	5602224	2	4	79	1	0	0	0	0	0	0	0	1	11155	796	28	2		2	OR52B6	11	5602224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36056	5602224	129404292	11715	22032											
OR52B6	340980	broad.mit.edu	37	chr11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtcatcctctcccagGcaatcctgcatgagcccatg	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(217-219)Gca>Aca		olfactory receptor, family 52, subfamily B, member 6							164	160	161					11																	5602323		2141	4259	6400	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602323G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.217G>A	11.37:g.5602323G>A	ENSP00000341581:p.Ala73Thr					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A73T	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	217	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	73					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.217G>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903901	0.17760	.	.	ENSG00000187747	ENST00000345043	T	0.00402	7.56	5.15	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	0.822472	0.09784	U	0.756273	T	0.00178	0.0005	N	0.12443	0.215	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36138	-0.9760	10	0.38643	T	0.18	.	0.6632	0.00846	0.2204:0.3738:0.1321:0.2737	.	73	Q8NGF0	O52B6_HUMAN	T	73	ENSP00000341581:A73T	ENSP00000341581:A73T	A	+	1	0	OR52B6	5558899	0.000000	0.05858	0.015000	0.15790	0.447000	0.32167	-1.811000	0.01728	0.056000	0.16144	-0.171000	0.13296	GCA		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		104	440	0	0	0	1	0	104	440					A	5602323	G	A	5602323	3	1	79	1	0	0	0	0	1	0	0	0	11155	1203	42	2	219	2	OR52B6	11	5602323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	5602323	129404193	11716	22033											
TRIM6	117854	broad.mit.edu	37	chr11	5626734	5626734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccaccagacccagtcGctgcgagagctcatctcgga	11	15	2	2	rs564295328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000278302.5	+	4	827	c.687G>A	c.(685-687)tcG>tcA	p.S229S	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Silent_p.S54S|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000515022.1_Silent_p.S54S|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000507320.1_Silent_p.S54S	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	229					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACCCAGTCGCTGCGAGAGC	0.537											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.0					ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(769-771)tcG>tcA		tripartite motif containing 6							74	70	71					11																	5626734		2201	4297	6498	SO:0001819	synonymous_variant	117854							g.chr11:5626734G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.687G>A	11.37:g.5626734G>A			OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000515022.1_Silent_p.S54S|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000278302.5_Silent_p.S229S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000507320.1_Silent_p.S54S	p.S257S	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1013	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	c.771G>A	CCDS31390.1																																																																																				0.537	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		50	210	0	0	0	1	0	50	210					A	5626734	G	A	5626734	2	1	79	1	0	0	0	0	0	0	0	1	16586	1074	38	1		1	TRIM6	11	5626734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24411	5626734	129379782	11717	22034											
TRIM5	85363	broad.mit.edu	37	chr11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcttcttcaaggtcacgttCtccgtcctaagaattaaaaa	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000380034.3	-	6	1030	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	258					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(772-774)gaG>gaT		tripartite motif containing 5							83	83	83					11																	5687305		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5687305C>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.774G>T	11.37:g.5687305C>A	ENSP00000369373:p.Glu258Asp					TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380034.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000483835.1_5'UTR	p.E258D			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	6	1076	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	258					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.774G>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901831	0.33535	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.84	-0.387	0.12463	.	1.506160	0.04073	N	0.308285	T	0.07052	0.0179	M	0.76838	2.35	0.09310	N	1	B;B;B	0.20261	0.043;0.004;0.001	B;B;B	0.23150	0.044;0.027;0.009	T	0.44003	-0.9356	10	0.62326	D	0.03	.	3.3104	0.07015	0.3351:0.4558:0.0:0.2091	.	258;258;258	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	D	258;258;258;258;258;259	ENSP00000380064:E258D;ENSP00000307031:E258D;ENSP00000369373:E258D;ENSP00000369366:E258D;ENSP00000380058:E258D;ENSP00000380062:E259D	ENSP00000307031:E258D	E	-	3	2	TRIM5	5643881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.486000	0.06513	-0.049000	0.13379	-0.140000	0.14226	GAG		0.408	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		61	248	1	0	5.19286e-32	1	6.12576e-32	61	248					A	5687305	C	A	5687305	3	1	79	1	0	0	0	0	1	0	0	0	16578	912	32	3	958	3	TRIM5	11	5687305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60571	5687305	129319211	11718	22035											
TRIM5	85363	broad.mit.edu	37	chr11	5699533	5699533	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatctcagtttcagagttCgtaaggcttttcagaatgtc	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(643-645)acG>acA		tripartite motif containing 5							129	111	117					11																	5699533		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699533C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.645G>A	11.37:g.5699533C>T						TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR	p.T215T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	947	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	215					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.645G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		32	315	0	0	0	1	0	32	315					T	5699533	C	T	5699533	2	4	79	1	0	0	0	0	0	0	0	1	16578	871	31	1		1	TRIM5	11	5699533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12228	5699533	129306983	11719	22036											
TRIM22	10346	broad.mit.edu	37	chr11	5730696	5730696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctctttatggctgtgCctccctgtcgtattggggtt	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	ENST00000379965.3	+	8	1592	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATGGCTGTGCCTCCCTGTCG	0.438																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1315-1317)Cct>Tct		tripartite motif containing 22							101	108	106					11																	5730696		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730696C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1315C>T	11.37:g.5730696C>T	ENSP00000369299:p.Pro439Ser					TRIM5_ENST00000380027.1_Intron	p.P439S	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1592	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	439			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1315C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957176	0.53293	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68331	-0.32	3.88	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78604	0.4309	M	0.75264	2.295	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65294	-0.6203	9	0.34782	T	0.22	.	9.8691	0.41164	0.0:0.8923:0.0:0.1077	.	361;435;439	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	439;250;361	ENSP00000369299:P439S	ENSP00000369299:P439S	P	+	1	0	TRIM22	5687272	0.000000	0.05858	0.008000	0.14137	0.539000	0.34962	0.139000	0.16036	0.939000	0.37446	0.467000	0.42956	CCT		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		24	647	0	0	0	1	0	24	647					T	5730696	C	T	5730696	3	4	79	1	0	0	0	0	1	0	0	0	16549	739	26	2	1341	2	TRIM22	11	5730696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	5730696	129275820	11720	22037											
OR52N4	390072	broad.mit.edu	37	chr11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctggggtgcttatgCttatggccctggatcgctat	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGCTTATGCTTATGGCCCT	0.488																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(355-357)Ctt>Att		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							168	164	165					11																	5776325		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776325C>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.355C>A	11.37:g.5776325C>A	ENSP00000323224:p.Leu119Ile					TRIM5_ENST00000380027.1_Intron	p.L119I	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	403	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.355C>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133435	0.37630	.	.	ENSG00000181074	ENST00000317254	T	0.02837	4.14	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000543	T	0.07818	0.0196	L	0.35542	1.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12400	-1.0549	10	0.66056	D	0.02	.	9.7107	0.40243	0.0:0.7793:0.1439:0.0768	.	119	Q8NGI2	O52N4_HUMAN	I	119	ENSP00000323224:L119I	ENSP00000323224:L119I	L	+	1	0	OR52N4	5732901	0.019000	0.18553	0.998000	0.56505	0.737000	0.42083	0.191000	0.17076	2.834000	0.97654	0.557000	0.71058	CTT		0.488	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		24	501	1	0	3.08376e-08	1	3.21767e-08	24	501					A	5776325	C	A	5776325	3	1	79	1	0	0	0	0	1	0	0	0	11171	797	28	3	357	3	OR52N4	11	5776325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45629	5776325	129230191	11721	22038											
OR52N5	390075	broad.mit.edu	37	chr11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctgtgaacccatgaAcaaagaacatctgggccaag	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		GAACCCATGAACAAAGAACAT	0.493																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(337-339)gTt>gCt		olfactory receptor, family 52, subfamily N, member 5							94	86	89					11																	5799527		2122	4087	6209	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799527A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.338T>C	11.37:g.5799527A>G	ENSP00000322866:p.Val113Ala					TRIM5_ENST00000380027.1_Intron	p.V113A	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_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	370	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	113					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.338T>C	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270074	0.40194	.	.	ENSG00000181009	ENST00000317093	T	0.03181	4.02	3.7	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28431	U	0.015374	T	0.09158	0.0226	M	0.63208	1.945	0.23677	N	0.997139	D	0.54964	0.969	P	0.54856	0.762	T	0.06232	-1.0838	10	0.87932	D	0	.	7.7915	0.29123	0.8961:0.0:0.1038:0.0	.	113	Q8NH56	O52N5_HUMAN	A	113	ENSP00000322866:V113A	ENSP00000322866:V113A	V	-	2	0	OR52N5	5756103	0.008000	0.16893	0.989000	0.46669	0.910000	0.53928	2.530000	0.45641	0.607000	0.29982	0.405000	0.27470	GTT		0.493	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		76	313	0	0	0	1	0	76	313					G	5799527	A	G	5799527	3	3	79	1	0	0	0	0	1	0	0	0	11172	43	2	4	640	4	OR52N5	11	5799527	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23202	5799527	129206989	11722	22039											
OR52N5	390075	broad.mit.edu	37	chr11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggactcctcataataaaTgaggtacacaagaccaagat	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		TCATAATAAATGAGGTACACA	0.453																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(169-171)Att>Gtt		olfactory receptor, family 52, subfamily N, member 5							139	128	132					11																	5799696		2124	4089	6213	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799696T>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.169A>G	11.37:g.5799696T>C	ENSP00000322866:p.Ile57Val					TRIM5_ENST00000380027.1_Intron	p.I57V	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_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	201	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	57					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.169A>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	9.317	1.057008	0.19907	.	.	ENSG00000181009	ENST00000317093	T	0.06687	3.27	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008127	T	0.09291	0.0229	L	0.53617	1.68	0.23751	N	0.996947	B	0.25719	0.132	B	0.21360	0.034	T	0.15896	-1.0421	10	0.41790	T	0.15	.	11.1721	0.48577	0.0:0.0:0.0:1.0	.	57	Q8NH56	O52N5_HUMAN	V	57	ENSP00000322866:I57V	ENSP00000322866:I57V	I	-	1	0	OR52N5	5756272	0.023000	0.18921	0.225000	0.23894	0.055000	0.15305	0.214000	0.17541	1.570000	0.49709	0.147000	0.16070	ATT		0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		32	618	0	0	0	1	0	32	618					C	5799696	T	C	5799696	3	2	79	1	0	0	0	0	1	0	0	0	11172	1464	51	4	809	4	OR52N5	11	5799696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169	5799696	129206820	11723	22040											
OR52N5	390075	broad.mit.edu	37	chr11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgttggaaaccagcataAtgaattaaatagaggcattc	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		AACCAGCATAATGAATTAAAT	0.348																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(19-21)Tta>Gta		olfactory receptor, family 52, subfamily N, member 5							56	56	56					11																	5799846		2111	4058	6169	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799846A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.19T>G	11.37:g.5799846A>C	ENSP00000322866:p.Leu7Val					TRIM5_ENST00000380027.1_Intron	p.L7V	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_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	51	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	7					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.19T>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	5.988	0.366239	0.11352	.	.	ENSG00000181009	ENST00000317093	T	0.00004	9.8	3.59	-1.95	0.07548	.	0.000000	0.36854	U	0.002370	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.14783	-1.0460	10	0.72032	D	0.01	.	4.7112	0.12873	0.5218:0.1625:0.3156:0.0	.	7	Q8NH56	O52N5_HUMAN	V	7	ENSP00000322866:L7V	ENSP00000322866:L7V	L	-	1	2	OR52N5	5756422	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.010000	0.12743	-0.138000	0.11434	-0.539000	0.04255	TTA		0.348	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		98	368	0	0	0	1	0	98	368					C	5799846	A	C	5799846	3	2	79	1	0	0	0	0	1	0	0	0	11172	98	4	4	959	4	OR52N5	11	5799846	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	5799846	129206670	11724	22041											
OR52N2	390077	broad.mit.edu	37	chr11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacttttttcactcatcGttttgtaggacacaatatcc	4	10	3	0	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438																																						ENST00000317037.2																			1	Substitution - Missense(1)	p.R265H(1)	pancreas(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(793-795)cGt>cAt		olfactory receptor, family 52, subfamily N, member 2		G	HIS/ARG	0,4402		0,0,2201	200	161	174		794	4.2	0.5	11	dbSNP_134	174	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR52N2	NM_001005174.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	265/322	5842359	1,12993	2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842359G>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.794G>A	11.37:g.5842359G>A	ENSP00000322801:p.Arg265His					TRIM5_ENST00000380027.1_Intron	p.R265H	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	816	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.794G>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	7.467	0.645803	0.14451	0.0	1.16E-4	ENSG00000180988	ENST00000317037	T	0.00130	8.69	6.09	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.116572	0.39544	N	0.001333	T	0.00271	0.0008	M	0.85859	2.78	0.20196	N	0.999924	B	0.15719	0.014	B	0.23275	0.045	T	0.38499	-0.9658	10	0.66056	D	0.02	.	15.0853	0.72148	0.1298:0.0:0.8702:0.0	.	265	Q8NGI0	O52N2_HUMAN	H	265	ENSP00000322801:R265H	ENSP00000322801:R265H	R	+	2	0	OR52N2	5798935	0.026000	0.19158	0.498000	0.27564	0.003000	0.03518	1.478000	0.35442	0.473000	0.27368	-0.829000	0.03081	CGT		0.438	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		99	466	0	0	0	1	0	99	466					A	5842359	G	A	5842359	3	1	79	1	0	0	0	0	1	0	0	0	11170	1145	40	1	796	1	OR52N2	11	5842359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42513	5842359	129164157	11725	22042											
OR52E8	390079	broad.mit.edu	37	chr11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaggtgttgagagctTtgagtcgagcttcccaggag	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGAGAGCTTTGAGTCGAGC	0.413																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(721-723)aAa>aGa		olfactory receptor, family 52, subfamily E, member 8							84	94	91					11																	5878211		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878211T>C	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.722A>G	11.37:g.5878211T>C	ENSP00000444054:p.Lys241Arg					TRIM5_ENST00000380027.1_Intron	p.K241R	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	753	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	241					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.722A>G	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116343	0.56505	.	.	ENSG00000183269	ENST00000537935	T	0.00360	7.86	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.121577	0.39407	N	0.001364	T	0.00552	0.0018	M	0.77313	2.365	0.34493	D	0.705219	P	0.44877	0.845	P	0.50825	0.651	T	0.65179	-0.6231	10	0.62326	D	0.03	.	12.8816	0.58020	0.0:0.0:0.0:1.0	.	241	Q6IFG1	O52E8_HUMAN	R	241	ENSP00000444054:K241R	ENSP00000444054:K241R	K	-	2	0	OR52E8	5834787	1.000000	0.71417	0.973000	0.42090	0.802000	0.45316	7.539000	0.82063	1.985000	0.57927	0.448000	0.29417	AAA		0.413	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		58	286	0	0	0	1	0	58	286					C	5878211	T	C	5878211	3	2	79	1	0	0	0	0	1	0	0	0	11160	1841	64	4	233	4	OR52E8	11	5878211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35852	5878211	129128305	11726	22043											
OR52E4	390081	broad.mit.edu	37	chr11	5906196	5906196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtgcttatccttagagCtgtttttcgccttccctctc	6	13	1	1	rs201376951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5906196C>T	ENST00000316987.2	+	1	696	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTTAGAGCTGTTTTTCGC	0.403																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(673-675)gCt>gTt		olfactory receptor, family 52, subfamily E, member 4							317	271	286					11																	5906196		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906196C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.674C>T	11.37:g.5906196C>T	ENSP00000321426:p.Ala225Val						p.A225V	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	696	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	225					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.674C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152737	0.57259	.	.	ENSG00000180974	ENST00000316987	T	0.00227	8.5	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.129607	0.34580	N	0.003846	T	0.00328	0.0010	M	0.72894	2.215	0.35797	D	0.822858	P	0.34522	0.455	P	0.44811	0.461	T	0.70124	-0.4958	10	0.59425	D	0.04	.	12.349	0.55136	0.0:0.9179:0.0:0.0821	.	225	Q8NGH9	O52E4_HUMAN	V	225	ENSP00000321426:A225V	ENSP00000321426:A225V	A	+	2	0	OR52E4	5862772	0.003000	0.15002	0.902000	0.35471	0.744000	0.42396	1.002000	0.29796	1.390000	0.46547	0.643000	0.83706	GCT		0.403	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		21	924	0	0	0	1	0	21	924					T	5906196	C	T	5906196	3	4	79	1	0	0	0	0	1	0	0	0	11158	797	28	2	676	2	OR52E4	11	5906196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27985	5906196	129100320	11727	22044											
OR52L1	338751	broad.mit.edu	37	chr11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtgaggaaggagaaaattCcagggacatagaagaccagg	15	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(817-819)gGa>gAa		olfactory receptor, family 52, subfamily L, member 1							121	122	122					11																	6007343		2064	4240	6304	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007343C>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.818G>A	11.37:g.6007343C>T	ENSP00000330338:p.Gly273Glu						p.G273E	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	872	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	273					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.818G>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832108	0.32421	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.55784	0.1942	M	0.71920	2.185	0.27952	N	0.937101	D	0.89917	1.0	D	0.97110	1.0	T	0.48736	-0.9009	10	0.87932	D	0	.	11.3353	0.49500	0.0:0.6675:0.3325:0.0	.	273	Q8NGH7	O52L1_HUMAN	E	273	ENSP00000330338:G273E	ENSP00000330338:G273E	G	-	2	0	OR52L1	5963919	0.000000	0.05858	1.000000	0.80357	0.310000	0.27922	-1.994000	0.01474	1.987000	0.57996	0.313000	0.20887	GGA		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		46	247	0	0	0	1	0	46	247					T	6007343	C	T	6007343	3	4	79	1	0	0	0	0	1	0	0	0	11167	855	30	2	175	2	OR52L1	11	6007343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101147	6007343	128999173	11728	22045											
FAM160A2	84067	broad.mit.edu	37	chr11	6238932	6238932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggggagggggcaggtgAccagggccctcccctgcacc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000449352.2	-	9	2147	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G	FAM160A2_ENST00000524416.1_Silent_p.G628G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.G642G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	628					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1924-1926)ggT>ggC		family with sequence similarity 160, member A2							20	22	21					11																	6238932		2197	4287	6484	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238932A>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1884T>C	11.37:g.6238932A>G						FAM160A2_ENST00000524416.1_Silent_p.G628G|FAM160A2_ENST00000449352.2_Silent_p.G628G	p.G642G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			9	2284	-			628					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1926T>C	CCDS44530.1																																																																																				0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		40	147	0	0	0	1	0	40	147					G	6238932	A	G	6238932	2	3	79	1	0	0	0	0	0	0	0	1	5490	262	10	4		4	FAM160A2	11	6238932	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	231589	6238932	128767584	11729	22046											
FAM160A2	84067	broad.mit.edu	37	chr11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtgcccatgaggcatgctCtggacgaggtgggctggggg	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000449352.2	-	8	1677	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E472*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1414-1416)Gag>Tag		family with sequence similarity 160, member A2							121	106	111					11																	6239851		2201	4296	6497	SO:0001587	stop_gained	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239851C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1414G>T	11.37:g.6239851C>A	ENSP00000416918:p.Glu472*					FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.E472*	p.E472*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			8	1772	-			472					Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	ENST00000449352.2	37	c.1414G>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	41	8.899205	0.98996	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	472;397;472;472	.	ENSP00000265978:E472X	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG		0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		161	678	1	0	1.34565e-61	1	1.69474e-61	161	678					A	6239851	C	A	6239851	4	1	79	1	0	0	0	0	0	1	0	0	5490	922	32	3	1566	3	FAM160A2	11	6239851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	919	6239851	128766665	11730	22047											
FAM160A2	84067	broad.mit.edu	37	chr11	6244424	6244424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctggaacctcaatcttTcgaggcagtgatgagtacag	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000449352.2	-	4	1085	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000524416.1_Silent_p.R274R|FAM160A2_ENST00000265978.4_Silent_p.R274R			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(820-822)cgA>cgG		family with sequence similarity 160, member A2							122	124	123					11																	6244424		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244424T>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.822A>G	11.37:g.6244424T>C						FAM160A2_ENST00000524416.1_Silent_p.R274R|FAM160A2_ENST00000449352.2_Silent_p.R274R	p.R274R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			4	1180	-			274					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.822A>G	CCDS44530.1																																																																																				0.473	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		201	687	0	0	0	1	0	201	687					C	6244424	T	C	6244424	2	2	79	1	0	0	0	0	0	0	0	1	5490	1770	62	4		4	FAM160A2	11	6244424	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4573	6244424	128762092	11731	22048											
FAM160A2	84067	broad.mit.edu	37	chr11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtcaacatctggtaaGtgtggttgcgcacagcactg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000449352.2	-	3	481	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000265978.4_Missense_Mutation_p.T73I			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	73					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(217-219)aCt>aTt		family with sequence similarity 160, member A2							42	41	41					11																	6245399		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245399G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.218C>T	11.37:g.6245399G>A	ENSP00000416918:p.Thr73Ile					FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000449352.2_Missense_Mutation_p.T73I	p.T73I	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			3	576	-			73					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.218C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332681	0.41297	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14391	3.13;3.13;2.51	4.85	2.77	0.32553	.	0.127864	0.51477	D	0.000100	T	0.11665	0.0284	L	0.31664	0.95	0.41178	D	0.986217	B;B;P	0.41978	0.215;0.073;0.767	B;B;B	0.44044	0.146;0.103;0.439	T	0.08868	-1.0701	10	0.42905	T	0.14	-6.3832	8.6136	0.33817	0.0935:0.0:0.749:0.1576	.	73;73;73	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	I	73	ENSP00000416918:T73I;ENSP00000265978:T73I;ENSP00000431773:T73I	ENSP00000265978:T73I	T	-	2	0	FAM160A2	6201975	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	1.230000	0.43646	0.655000	0.94253	ACT		0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		59	246	0	0	0	1	0	59	246					A	6245399	G	A	6245399	3	1	79	1	0	0	0	0	1	0	0	0	5490	1029	36	2	2782	2	FAM160A2	11	6245399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	6245399	128761117	11732	22049											
CNGA4	1262	broad.mit.edu	37	chr11	6261612	6261612	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatcccggtacctgggcttCgggcgtgacgcatgggtgta	15	11	0	1	rs377739445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000379936.2	+	4	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	196					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGGGCTTCGGGCGTGACG	0.552																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(586-588)ttC>ttT		cyclic nucleotide gated channel alpha 4		C		0,4396		0,0,2198	62	65	64		588	-1.8	1	11		64	1,8583		0,1,4291	no	coding-synonymous	CNGA4	NM_001037329.3		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		196/576	6261612	1,12979	2198	4292	6490	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261612C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.588C>T	11.37:g.6261612C>T						CNGA4_ENST00000533426.1_Intron	p.F196F	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	703	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	196						Silent	SNP	ENST00000379936.2	37	c.588C>T	CCDS31408.1																																																																																				0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		144	650	0	0	0	1	0	144	650					T	6261612	C	T	6261612	2	4	79	1	0	0	0	0	0	0	0	1	3608	883	31	1		1	CNGA4	11	6261612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16213	6261612	128744904	11733	22050											
CCKBR	887	broad.mit.edu	37	chr11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgcactggagcggtacaGcgccatctgccgaccactgc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000334619.2	+	3	654	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I|CCKBR_ENST00000525462.1_Missense_Mutation_p.S154I|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	154					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(460-462)aGc>aTc		cholecystokinin B receptor	Pentagastrin(DB00183)						53	47	49					11																	6291375		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291375G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.461G>T	11.37:g.6291375G>T	ENSP00000335544:p.Ser154Ile					CCKBR_ENST00000334619.2_Missense_Mutation_p.S154I|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I	p.S154I			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	464	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	139					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.461G>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489164	0.84962	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.33654	2.27;1.4;2.27	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.20328	0.56	0.58432	D	0.999995	P;D;D	0.61697	0.944;0.99;0.983	P;D;D	0.67900	0.792;0.923;0.954	T	0.28396	-1.0045	10	0.32370	T	0.25	.	16.5922	0.84769	0.0:0.0:1.0:0.0	.	154;88;154	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	154;70;154	ENSP00000335544:S154I;ENSP00000432079:S70I;ENSP00000435534:S154I	ENSP00000335544:S154I	S	+	2	0	CCKBR	6247951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.505000	0.84491	0.655000	0.94253	AGC		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		62	267	1	0	1.22119e-34	1	1.45331e-34	62	267					T	6291375	G	T	6291375	3	4	79	1	0	0	0	0	1	0	0	0	2888	971	34	3	471	3	CCKBR	11	6291375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29763	6291375	128715141	11734	22051											
CCKBR	887	broad.mit.edu	37	chr11	6291537	6291537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgcagtgcgtgcatcGctggcccagtgcgcgggtcc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291537G>A	ENST00000334619.2	+	3	816	c.623G>A	c.(622-624)cGc>cAc	p.R208H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R124H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R208H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	208					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCGTGCATCGCTGGCCCAGT	0.582																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(622-624)cGc>cAc		cholecystokinin B receptor	Pentagastrin(DB00183)						85	84	85					11																	6291537		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291537G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.623G>A	11.37:g.6291537G>A	ENSP00000335544:p.Arg208His					CCKBR_ENST00000334619.2_Missense_Mutation_p.R208H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R124H	p.R208H			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	626	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	168					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.623G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977410	0.34848	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.36878	1.23;1.23;1.23	5.33	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.432805	0.25419	N	0.030803	T	0.17152	0.0412	N	0.25144	0.715	0.27775	N	0.943357	P;B;B	0.35612	0.512;0.0;0.002	B;B;B	0.19391	0.025;0.001;0.005	T	0.09997	-1.0649	10	0.37606	T	0.19	.	5.406	0.16323	0.0804:0.1431:0.6287:0.1478	.	208;142;208	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	208;124;208	ENSP00000335544:R208H;ENSP00000432079:R124H;ENSP00000435534:R208H	ENSP00000335544:R208H	R	+	2	0	CCKBR	6248113	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.021000	0.12504	1.228000	0.43614	0.655000	0.94253	CGC		0.582	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		12	755	0	0	0	1	0	12	755					A	6291537	G	A	6291537	3	1	79	1	0	0	0	0	1	0	0	0	2888	1087	38	1	633	1	CCKBR	11	6291537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162	6291537	128714979	11735	22052											
CCKBR	887	broad.mit.edu	37	chr11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctactgcttcatgcaccGtcgctttcgccaggcctgcc	10	16	2	0	rs200480495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000334619.2	+	5	1377	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R464H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	395					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1390-1392)cGt>cAt		cholecystokinin B receptor	Pentagastrin(DB00183)						101	88	92					11																	6292613		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292613G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1184G>A	11.37:g.6292613G>A	ENSP00000335544:p.Arg395His					CCKBR_ENST00000334619.2_Missense_Mutation_p.R395H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H	p.R464H			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1394	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	395					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1391G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618093	0.66787	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.24	5.24	0.73138	.	0.320210	0.28996	N	0.013466	T	0.50188	0.1601	L	0.34521	1.04	0.32301	N	0.565033	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.943	T	0.59726	-0.7400	10	0.62326	D	0.03	.	10.9615	0.47387	0.0865:0.0:0.9135:0.0	.	464;395	P32239-2;P32239	.;GASR_HUMAN	H	395;311;464	ENSP00000335544:R395H;ENSP00000432079:R311H;ENSP00000435534:R464H	ENSP00000335544:R395H	R	+	2	0	CCKBR	6249189	0.012000	0.17670	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.425000	0.82216	0.557000	0.71058	CGT		0.647	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		70	623	0	0	0	1	0	70	623					A	6292613	G	A	6292613	3	1	79	1	0	0	0	0	1	0	0	0	2888	1145	40	1	1202	1	CCKBR	11	6292613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1076	6292613	128713903	11736	22053											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactccaccggctcctcgTccgagctctctccaacttcg	8	18	1	0	rs369741142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000303927.3	-	2	670	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	167					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCTCCTCGTCCGAGCTCTC	0.692																																						ENST00000303927.3																			0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(499-501)gAc>gGc		protein kinase C, delta binding protein		T	GLY/ASP	0,4400		0,0,2200	18	22	20		500	5.1	0.6	11		20	1,8583		0,1,4291	no	missense	PRKCDBP	NM_145040.2	94	0,1,6491	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	167/262	6340679	1,12983	2200	4292	6492	SO:0001583	missense	112464							g.chr11:6340679T>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.500A>G	11.37:g.6340679T>C	ENSP00000307292:p.Asp167Gly					PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	p.D167G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	670	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	167						Missense_Mutation	SNP	ENST00000303927.3	37	c.500A>G	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311230	0.81358	0.0	1.16E-4	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62498	0.02;0.02	5.08	5.08	0.68730	.	0.056346	0.64402	D	0.000002	T	0.64159	0.2573	L	0.47716	1.5	0.29727	N	0.838205	P	0.43094	0.799	P	0.49829	0.623	T	0.66712	-0.5854	10	0.87932	D	0	-24.4683	11.2449	0.48991	0.0:0.0:0.0:1.0	.	167	Q969G5	PRDBP_HUMAN	G	167;199	ENSP00000307292:D167G;ENSP00000432047:D199G	ENSP00000307292:D167G	D	-	2	0	PRKCDBP	6297255	0.944000	0.32072	0.601000	0.28877	0.976000	0.68499	2.835000	0.48175	1.920000	0.55613	0.459000	0.35465	GAC		0.692	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		34	225	0	0	0	1	0	34	225					C	6340679	T	C	6340679	3	2	79	1	0	0	0	0	1	0	0	0	12557	1667	58	4	289	4	PRKCDBP	11	6340679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48066	6340679	128665837	11737	22054											
APBB1	322	broad.mit.edu	37	chr11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcatgcaggctggtggCgatgttcttggcaggtgcct	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000609360.1	-	10	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T|APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	492	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCTGGTGGCGATGTTCTTG	0.582																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1474-1476)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							154	112	126					11																	6422833		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422833C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1474G>A	11.37:g.6422833C>T	ENSP00000477213:p.Ala492Thr					APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000533407.1_Missense_Mutation_p.A231T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T	p.A492T	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1573	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	492			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1474G>A		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880540	0.72294	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.075519	0.51477	N	0.000085	T	0.47002	0.1422	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.973;1.0	D;B;P;D	0.68483	0.958;0.378;0.497;0.939	T	0.49504	-0.8933	10	0.62326	D	0.03	-3.8853	13.9432	0.64069	0.0:1.0:0.0:0.0	.	95;492;270;490	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	T	490;490;492;341;233;257;270;231	ENSP00000299402:A490T;ENSP00000311912:A490T;ENSP00000374556:A492T;ENSP00000433338:A270T;ENSP00000437114:A231T	ENSP00000299402:A490T	A	-	1	0	APBB1	6379409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	GCC		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		43	266	0	0	0	1	0	43	266					T	6422833	C	T	6422833	3	4	79	1	0	0	0	0	1	0	0	0	759	768	27	1	682	1	APBB1	11	6422833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82154	6422833	128583683	11738	22055											
APBB1	322	broad.mit.edu	37	chr11	6432329	6432329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgattctggtcacggtgGgccgtggcggcccgccggag	18	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000609360.1	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	83					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCACGGTGGGCCGTGGCGG	0.662																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(247-249)gcC>gcT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							88	104	98					11																	6432329		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432329G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.249C>T	11.37:g.6432329G>A						APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A	p.A83A	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	348	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	83					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.249C>T																																																																																					0.662	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		62	1474	0	0	0	1	0	62	1474					A	6432329	G	A	6432329	2	1	79	1	0	0	0	0	0	0	0	1	759	1219	43	2		2	APBB1	11	6432329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9496	6432329	128574187	11739	22056											
TRIM3	10612	broad.mit.edu	37	chr11	6472627	6472627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaggtgagcgtcctcgGaccccaaaacggaacttgaa	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6472627G>A	ENST00000525074.1	-	8	1969	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	TRIM3_ENST00000345851.3_Silent_p.V525V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000536344.1_Silent_p.V406V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	525					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGTCCTCGGACCCCAAAAC	0.587																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1573-1575)gtC>gtT		tripartite motif containing 3							81	77	78					11																	6472627		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472627G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1575C>T	11.37:g.6472627G>A						TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000345851.3_Silent_p.V525V	p.V525V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	1969	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	525					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1575C>T	CCDS7764.1																																																																																				0.587	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		11	455	0	0	0	1	0	11	455					A	6472627	G	A	6472627	2	1	79	1	0	0	0	0	0	0	0	1	16557	1161	41	2		2	TRIM3	11	6472627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40298	6472627	128533889	11740	22057											
TRIM3	10612	broad.mit.edu	37	chr11	6477406	6477406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcccttccacgactgcCtgtgggaagggacaggaggg	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3						nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGACTGCCTGTGGGAAGG	0.537																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.e7-1		tripartite motif containing 3							94	86	88					11																	6477406		2201	4296	6497	SO:0001630	splice_region_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477406C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1430-1G>A	11.37:g.6477406C>T						TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site		NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1824	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)						B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	37		CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244253	0.79912	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0997	0.89501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM3	6433982	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.463000	0.80869	2.610000	0.88304	0.563000	0.77884	.		0.537	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	Intron	62	324	0	0	0	1	0	62	324					T	6477406	C	T	6477406	5	4	79	1	0	0	0	0	0	0	1	0	16557	695	24	2	829	2	TRIM3	11	6477406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4779	6477406	128529110	11741	22058											
TRIM3	10612	broad.mit.edu	37	chr11	6477726	6477726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgcggaaggggctgccGcgcactggctgtccgtagag	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000345851.3_Silent_p.R410R|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCTGCCGCGCACTGGCT	0.677																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1228-1230)cgC>cgT		tripartite motif containing 3							16	16	16					11																	6477726		2191	4282	6473	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477726G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1230C>T	11.37:g.6477726G>A						TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000345851.3_Silent_p.R410R	p.R410R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1624	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	410					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1230C>T	CCDS7764.1																																																																																				0.677	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		42	132	0	0	0	1	0	42	132					A	6477726	G	A	6477726	2	1	79	1	0	0	0	0	0	0	0	1	16557	1074	38	1		1	TRIM3	11	6477726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320	6477726	128528790	11742	22059											
TRIM3	10612	broad.mit.edu	37	chr11	6478037	6478037	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagattgagcaccgatcGccgcagaccgtccacctcaa	9	17	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478037G>A	ENST00000525074.1	-	6	1313	c.919C>T	c.(919-921)Cga>Tga	p.R307*	TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R229*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	307					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACCGATCGCCGCAGACCG	0.672																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(919-921)Cga>Tga		tripartite motif containing 3							68	62	64					11																	6478037		2184	4271	6455	SO:0001587	stop_gained	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478037G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.919C>T	11.37:g.6478037G>A	ENSP00000433102:p.Arg307*					TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R229*|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R307*	p.R307*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1313	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	307					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Nonsense_Mutation	SNP	ENST00000525074.1	37	c.919C>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674684	0.96764	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.27	2.19	0.27852	.	0.106561	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-7.0912	12.9499	0.58394	0.0:0.0:0.4207:0.5793	.	.	.	.	X	307;307;307;307;296;229;307;188	.	ENSP00000337094:R296X	R	-	1	2	TRIM3	6434613	0.001000	0.12720	0.965000	0.40720	0.531000	0.34715	0.527000	0.22987	0.163000	0.19507	0.563000	0.77884	CGA		0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		11	596	0	0	0	1	0	11	596					A	6478037	G	A	6478037	4	1	79	1	0	0	0	0	0	1	0	0	16557	1095	38	1	1343	1	TRIM3	11	6478037	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	6478037	128528479	11743	22060											
TRIM3	10612	broad.mit.edu	37	chr11	6478645	6478645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggcctctgccttgcGctcctgcagctgctggctga	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478645G>A	ENST00000525074.1	-	5	971	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	193					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCCTTGCGCTCCTGCAGC	0.612																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(577-579)Cgc>Tgc		tripartite motif containing 3							72	69	70					11																	6478645		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478645G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.577C>T	11.37:g.6478645G>A	ENSP00000433102:p.Arg193Cys					TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C	p.R193C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	971	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	193					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.577C>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382009	0.61845	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.7;-0.7;-0.87;-0.7;-1.86;0.89	5.15	4.24	0.50183	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.65975	2.015	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.815;0.997	D;B;P	0.64042	0.921;0.071;0.836	D	0.86892	0.2049	10	0.42905	T	0.14	-9.609	7.5834	0.27978	0.0849:0.0:0.7521:0.163	.	74;74;193	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	C	193;193;193;193;182;193;193;74;193	ENSP00000433102:R193C;ENSP00000340797:R193C;ENSP00000441091:R193C;ENSP00000352508:R193C;ENSP00000445460:R74C;ENSP00000433070:R193C	ENSP00000337094:R182C	R	-	1	0	TRIM3	6435221	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.499000	0.45372	1.177000	0.42855	0.462000	0.41574	CGC		0.612	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		8	411	0	0	0	1	0	8	411					A	6478645	G	A	6478645	3	1	79	1	0	0	0	0	1	0	0	0	16557	1087	38	1	1689	1	TRIM3	11	6478645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	6478645	128527871	11744	22061											
TRIM3	10612	broad.mit.edu	37	chr11	6479076	6479076	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagtaaaactccatcGtctgcggtacaaggactcca	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000345851.3_Splice_Site_p.T122M|TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	122					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCCATCGTCTGCGGTAC	0.602																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.e4-1		tripartite motif containing 3							85	76	79					11																	6479076		2201	4296	6497	SO:0001630	splice_region_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479076G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.364-1C>T	11.37:g.6479076G>A						TRIM3_ENST00000536344.1_Splice_Site_p.T3_splice|TRIM3_ENST00000359518.3_Splice_Site_p.T122_splice|TRIM3_ENST00000537602.1_Splice_Site_p.T122_splice|TRIM3_ENST00000345851.3_Splice_Site_p.T122_splice	p.T122_splice	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	759	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	122					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	37	c.363_splice	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119405	0.37436	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.225856	0.46145	D	0.000306	T	0.36468	0.0968	N	0.11927	0.2	0.39543	D	0.968854	D;D;B	0.63046	0.992;0.984;0.367	P;P;B	0.57283	0.599;0.817;0.264	T	0.28839	-1.0031	10	0.46703	T	0.11	-3.5121	7.8979	0.29717	0.1767:0.0:0.8233:0.0	.	3;3;122	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	122;122;122;122;122;122;122;3;122	ENSP00000433102:T122M;ENSP00000340797:T122M;ENSP00000441091:T122M;ENSP00000352508:T122M;ENSP00000445460:T3M;ENSP00000433070:T122M	ENSP00000337094:T122M	T	-	2	0	TRIM3	6435652	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.699000	0.68310	2.345000	0.79718	0.462000	0.41574	ACG		0.602	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	Missense_Mutation	97	438	0	0	0	1	0	97	438					A	6479076	G	A	6479076	5	1	79	1	0	0	0	0	0	0	1	0	16557	1159	40	1	1905	1	TRIM3	11	6479076	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431	6479076	128527440	11745	22062											
TRIM3	10612	broad.mit.edu	37	chr11	6479370	6479370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtcctccgggtcgtgGgccccatcaggtgcctgctg	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000345851.3_Silent_p.A96A|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	96					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGGTCGTGGGCCCCATCAG	0.652																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(286-288)gcC>gcT		tripartite motif containing 3							44	47	46					11																	6479370		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479370G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.288C>T	11.37:g.6479370G>A						TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000345851.3_Silent_p.A96A	p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	682	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	96					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.288C>T	CCDS7764.1																																																																																				0.652	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		72	364	0	0	0	1	0	72	364					A	6479370	G	A	6479370	2	1	79	1	0	0	0	0	0	0	0	1	16557	1219	43	2		2	TRIM3	11	6479370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	6479370	128527146	11746	22063											
ARFIP2	23647	broad.mit.edu	37	chr11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatgccccatttcttgAcgatgtcaaacttttctcca	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|TIMM10B_ENST00000472836.1_5'Flank|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	96					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(286-288)gTc>gCc		ADP-ribosylation factor interacting protein 2							90	82	85					11																	6500398		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500398A>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.287T>C	11.37:g.6500398A>G	ENSP00000254584:p.Val96Ala					ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000445086.2_Intron	p.V96A	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	370	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.287T>C	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003961	0.93287	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.79352	-1.26;-1.26;-1.26	5.6	5.6	0.85130	.	0.215125	0.48767	D	0.000161	D	0.83510	0.5270	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.863	P;P	0.54060	0.741;0.484	D	0.85554	0.1223	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	129;96	B4DUZ3;P53365	.;ARFP2_HUMAN	A	96;96;58;96	ENSP00000254584:V96A;ENSP00000379998:V96A;ENSP00000398375:V58A	ENSP00000254584:V96A	V	-	2	0	ARFIP2	6456974	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.333000	0.79214	2.148000	0.66965	0.397000	0.26171	GTC		0.502	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		53	292	0	0	0	1	0	53	292					G	6500398	A	G	6500398	3	3	79	1	0	0	0	0	1	0	0	0	855	275	10	4	758	4	ARFIP2	11	6500398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21028	6500398	128506118	11747	22064											
DNHD1	144132	broad.mit.edu	37	chr11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcacacaggtctcAgcttgactatgaagttccca	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000527990.2	+	2	752	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P|DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(751-753)cAg>cCg		dynein heavy chain domain 1							81	70	73					11																	6523988		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6523988A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.752A>C	11.37:g.6523988A>C	ENSP00000436180:p.Gln251Pro					DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P|DNHD1_ENST00000527990.2_Missense_Mutation_p.Q251P	p.Q251P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1316	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	251					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.752A>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446580	0.25987	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27402	1.67;2.66;1.67	5.63	3.17	0.36434	.	1.037430	0.07577	N	0.919635	T	0.41719	0.1171	M	0.68317	2.08	0.09310	N	1	P;D	0.60160	0.917;0.987	B;P	0.52217	0.446;0.693	T	0.18335	-1.0340	10	0.23891	T	0.37	.	8.0455	0.30547	0.6741:0.0:0.0:0.3259	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	251	ENSP00000254579:Q251P;ENSP00000346716:Q251P;ENSP00000436180:Q251P	ENSP00000254579:Q251P	Q	+	2	0	DNHD1	6480564	0.000000	0.05858	0.016000	0.15963	0.281000	0.26958	-0.175000	0.09825	0.338000	0.23692	0.455000	0.32223	CAG		0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		38	180	0	0	0	1	0	38	180					C	6523988	A	C	6523988	3	2	79	1	0	0	0	0	1	0	0	0	4684	188	7	4	758	4	DNHD1	11	6523988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23590	6523988	128482528	11748	22065											
DNHD1	144132	broad.mit.edu	37	chr11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcaactgtctcatgTgccctgtgttgaaaatatga	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000527990.2	+	7	1715	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	572					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1714-1716)gTg>gCg		dynein heavy chain domain 1							141	127	132					11																	6541262		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541262T>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1715T>C	11.37:g.6541262T>C	ENSP00000436180:p.Val572Ala					DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000527990.2_Missense_Mutation_p.V572A	p.V572A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2279	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	572					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1715T>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429110	0.04701	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26957	1.7;2.74;1.7	5.88	2.21	0.28008	.	0.953008	0.08759	N	0.898000	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.39418	-0.9615	10	0.09590	T	0.72	.	4.5634	0.12172	0.4278:0.0956:0.0:0.4766	.	572;572	Q96M86;Q96M86-4	DNHD1_HUMAN;.	A	572	ENSP00000254579:V572A;ENSP00000346716:V572A;ENSP00000436180:V572A	ENSP00000254579:V572A	V	+	2	0	DNHD1	6497838	0.269000	0.24143	0.750000	0.31169	0.017000	0.09413	0.687000	0.25407	0.119000	0.18210	-0.496000	0.04628	GTG		0.493	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		117	555	0	0	0	1	0	117	555					C	6541262	T	C	6541262	3	2	79	1	0	0	0	0	1	0	0	0	4684	1696	59	4	1741	4	DNHD1	11	6541262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17274	6541262	128465254	11749	22066											
DNHD1	144132	broad.mit.edu	37	chr11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcttgtgcagagagtAtcctgaactcgagacccgct	10	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000527990.2	+	33	11309	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3770					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11308-11310)tAt>tGt		dynein heavy chain domain 1							86	87	86					11																	6587919		2028	4186	6214	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6587919A>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11309A>G	11.37:g.6587919A>G	ENSP00000436180:p.Tyr3770Cys					DNHD1_ENST00000527990.2_Missense_Mutation_p.Y3770C	p.Y3770C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	11873	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3770					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11309A>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035064	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25749	1.78;1.78	4.52	1.55	0.23275	.	1.253460	0.05804	N	0.612835	T	0.12561	0.0305	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.87932	D	0	3.8543	5.9195	0.19073	0.1776:0.1562:0.6662:0.0	.	2858;38;3770	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3770;3770;38;38	ENSP00000254579:Y3770C;ENSP00000436180:Y3770C	ENSP00000254579:Y3770C	Y	+	2	0	DNHD1	6544495	0.009000	0.17119	0.015000	0.15790	0.045000	0.14185	0.726000	0.25984	0.234000	0.21139	-0.146000	0.13790	TAT		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		15	78	0	0	0	1	0	15	78					G	6587919	A	G	6587919	3	3	79	1	0	0	0	0	1	0	0	0	4684	449	16	4	11448	4	DNHD1	11	6587919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46657	6587919	128418597	11750	22067											
DNHD1	144132	broad.mit.edu	37	chr11	6588955	6588955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccctggatgaaaacacGtatgctcccaccatgccctt	8	16	0	1	rs375313570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000527990.2	+	34	12216	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000254579.6_Silent_p.T4072T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4072					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12214-12216)acG>acA		dynein heavy chain domain 1		G		0,4128		0,0,2064	73	75	74		12216	1.7	0	11		74	2,8378		0,2,4188	no	coding-synonymous	DNHD1	NM_144666.2		0,2,6252	AA,AG,GG		0.0239,0.0,0.016		4072/4754	6588955	2,12506	2064	4190	6254	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588955G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12216G>A	11.37:g.6588955G>A						DNHD1_ENST00000527990.2_Silent_p.T4072T	p.T4072T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12780	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4072					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.12216G>A	CCDS44532.1																																																																																				0.592	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		85	353	0	0	0	1	0	85	353					A	6588955	G	A	6588955	2	1	79	1	0	0	0	0	0	0	0	1	4684	1132	40	1		1	DNHD1	11	6588955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	6588955	128417561	11751	22068											
DNHD1	144132	broad.mit.edu	37	chr11	6592149	6592149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacgagtccgacgccccGtggtcagtgctggggccaaa	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000527990.2	+	40	13407	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000254579.6_Silent_p.P4469P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4469					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13405-13407)ccG>ccA		dynein heavy chain domain 1							46	52	50					11																	6592149		2078	4205	6283	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592149G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13407G>A	11.37:g.6592149G>A						DNHD1_ENST00000527990.2_Silent_p.P4469P	p.P4469P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13971	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4469					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.13407G>A	CCDS44532.1																																																																																				0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		67	273	0	0	0	1	0	67	273					A	6592149	G	A	6592149	2	1	79	1	0	0	0	0	0	0	0	1	4684	1132	40	1		1	DNHD1	11	6592149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3194	6592149	128414367	11752	22069											
RRP8	23378	broad.mit.edu	37	chr11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcgaacatcctcaaagCggctgctgacctcagccact	9	14	2	1	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000254605.6	-	6	1304	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	396					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(1186-1188)cGc>cAc		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	HIS/ARG	0,4402		0,0,2201	39	40	40		1187	5.9	1	11	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	RRP8	NM_015324.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	396/457	6621780	1,12993	2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6621780C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1187G>A	11.37:g.6621780C>T	ENSP00000254605:p.Arg396His					RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	p.R396H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			6	1304	-			396					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.1187G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037135	0.93630	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.60920	0.15;0.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75158	-0.3416	10	0.62326	D	0.03	-1.3872	18.8347	0.92157	0.0:1.0:0.0:0.0	.	396	O43159	RRP8_HUMAN	H	396;80	ENSP00000254605:R396H;ENSP00000436960:R80H	ENSP00000254605:R396H	R	-	2	0	RRP8	6578356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.736000	0.74811	2.793000	0.96121	0.561000	0.74099	CGC		0.498	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		32	154	0	0	0	1	0	32	154					T	6621780	C	T	6621780	3	4	79	1	0	0	0	0	1	0	0	0	13740	768	27	1	191	1	RRP8	11	6621780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29631	6621780	128384736	11753	22070											
RRP8	23378	broad.mit.edu	37	chr11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcgggccccatccagcCgctgtgccatgcgggctcgc	13	16	0	0	rs199533609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000254605.6	-	3	851	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	245					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17893	0.001		0.0	False		,,,				2504	0.0					ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(733-735)cGg>cAg		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	28	28	28		734	5.8	0.8	11		28	0,8592		0,0,4296	no	missense	RRP8	NM_015324.3	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	245/457	6622562	1,12993	2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622562C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.734G>A	11.37:g.6622562C>T	ENSP00000254605:p.Arg245Gln					RRP8_ENST00000534343.1_Intron	p.R245Q	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			3	851	-			245					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.734G>A	CCDS31411.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.900420	0.72754	2.27E-4	0.0	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.058855	0.64402	D	0.000002	T	0.32071	0.0817	N	0.20685	0.6	0.80722	D	1	P	0.44816	0.844	B	0.32149	0.141	T	0.17198	-1.0377	10	0.42905	T	0.14	-6.5464	18.7357	0.91753	0.0:1.0:0.0:0.0	.	245	O43159	RRP8_HUMAN	Q	245	ENSP00000254605:R245Q;ENSP00000436246:R245Q	ENSP00000254605:R245Q	R	-	2	0	RRP8	6579138	1.000000	0.71417	0.767000	0.31495	0.969000	0.65631	5.095000	0.64529	2.773000	0.95371	0.650000	0.86243	CGG		0.607	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		22	148	0	0	0	1	0	22	148					T	6622562	C	T	6622562	3	4	79	1	0	0	0	0	1	0	0	0	13740	652	23	1	656	1	RRP8	11	6622562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	6622562	128383954	11754	22071											
ILK	3611	broad.mit.edu	37	chr11	6630170	6630170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attccatacaaggacacattCtggaaggggaccacccgcac	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6630170C>A	ENST00000396751.2	+	5	960	c.504C>A	c.(502-504)ttC>ttA	p.F168L	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|TAF10_ENST00000531760.1_5'Flank	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	168					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AGGACACATTCTGGAAGGGGA	0.532																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(502-504)ttC>ttA		integrin-linked kinase							104	112	109					11																	6630170		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6630170C>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.504C>A	11.37:g.6630170C>A	ENSP00000379975:p.Phe168Leu					ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y	p.F168L	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	5	960	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	168					B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.504C>A	CCDS7768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232771|2.232771	0.39498|0.39498	.|.	.|.	ENSG00000166333|ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000396751|ENST00000528995	T;D;T;T|T	0.81499|0.80214	-1.11;-1.5;-1.11;-1.11|-1.35	5.14|5.14	1.2|1.2	0.21068|0.21068	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|B	0.24882|0.02656	0.113|0.0	B|B	0.22152|0.01281	0.038|0.0	T|T	0.68135|0.68135	-0.5489|-0.5489	10|9	0.10111|0.62326	T|D	0.7|0.03	.|.	9.0754|9.0754	0.36517|0.36517	0.0:0.6997:0.0:0.3003|0.0:0.6997:0.0:0.3003	.|.	168|136	Q13418|B7Z418	ILK_HUMAN|.	L|Y	168;34;168;168|136	ENSP00000299421:F168L;ENSP00000439606:F34L;ENSP00000403487:F168L;ENSP00000379975:F168L|ENSP00000435323:S136Y	ENSP00000299421:F168L|ENSP00000435323:S136Y	F|S	+|+	3|2	2|0	ILK|ILK	6586746|6586746	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.064000|2.064000	0.41432|0.41432	0.072000|0.072000	0.16694|0.16694	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.532	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		10	628	1	0	6.40141e-05	1	6.5221e-05	10	628					A	6630170	C	A	6630170	3	1	79	1	0	0	0	0	1	0	0	0	7743	912	32	3	522	3	ILK	11	6630170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7608	6630170	128376346	11755	22072											
TPP1	1200	broad.mit.edu	37	chr11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcagggaaggtagggCggaactggtgtcttccagag	19	6	1	1	rs546003291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000299427.6	-	9	1184	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Missense_Mutation_p.R132H|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GAAGGTAGGGCGGAACTGGTG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.001					ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(394-396)cGc>cAc		tripeptidyl peptidase I							112	97	102					11																	6637257		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637257C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1124G>A	11.37:g.6637257C>T	ENSP00000299427:p.Arg375His					TPP1_ENST00000299427.6_Missense_Mutation_p.R375H	p.R132H			O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	8	1193	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	375					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.395G>A	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478376	0.84747	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93712	0.7025	10	0.45353	T	0.12	-10.1855	18.5131	0.90925	0.0:1.0:0.0:0.0	.	375	O14773	TPP1_HUMAN	H	375;132	ENSP00000299427:R375H;ENSP00000437066:R132H	ENSP00000299427:R375H	R	-	2	0	TPP1	6593833	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.159000	0.64923	2.623000	0.88846	0.561000	0.74099	CGC		0.488	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			39	225	0	0	0	1	0	39	225					T	6637257	C	T	6637257	3	4	79	1	0	0	0	0	1	0	0	0	16464	768	27	1	587	1	TPP1	11	6637257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7087	6637257	128369259	11756	22073											
TPP1	1200	broad.mit.edu	37	chr11	6637890	6637890	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagtcctcttggtagtAccagggctactgtagaccca	10	12	1	1	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000299427.6	-	7	947		c.e7+1		RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Splice_Site|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I						embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TCTTGGTAGTACCAGGGCTAC	0.582																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e6+1		tripeptidyl peptidase I							75	73	74					11																	6637890		2201	4296	6497	SO:0001630	splice_region_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637890A>G	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.886+1T>C	11.37:g.6637890A>G						TPP1_ENST00000299427.6_Splice_Site				O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	6	956	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)						Q71V64	Splice_Site	SNP	ENST00000299427.6	37		CCDS7770.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560786	0.45590	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9135	0.52753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPP1	6594466	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.578000	0.90777	1.711000	0.51337	0.374000	0.22700	.		0.582	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		Intron	65	313	0	0	0	1	0	65	313					G	6637890	A	G	6637890	5	3	79	1	0	0	0	0	0	0	1	0	16464	405	14	4	831	4	TPP1	11	6637890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	633	6637890	128368626	11757	22074											
DCHS1	8642	broad.mit.edu	37	chr11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctgtcagcgcacctgCcacacatggcttgccatctg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3144					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)			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)		AGCGCACCTGCCACACATGGC	0.657																																						ENST00000299441.3																			0				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						c.(9430-9432)Gca>Aca		dachsous cadherin-related 1							14	15	15					11																	6643477		2189	4273	6462	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643477C>T	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.9430G>A	11.37:g.6643477C>T	ENSP00000299441:p.Ala3144Thr					RP11-732A19.5_ENST00000526456.1_RNA	p.A3144T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9841	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3144					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9430G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817471	0.50633	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	.	0.000000	0.40302	N	0.001140	T	0.34571	0.0902	N	0.17474	0.49	0.42164	D	0.991615	P	0.47409	0.895	P	0.44518	0.452	T	0.08868	-1.0701	10	0.12103	T	0.63	.	16.3911	0.83541	0.0:1.0:0.0:0.0	.	3144	Q96JQ0	PCD16_HUMAN	T	3144	ENSP00000299441:A3144T	ENSP00000299441:A3144T	A	-	1	0	DCHS1	6600053	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.588000	0.82629	2.422000	0.82143	0.313000	0.20887	GCA		0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	51	0	0	0	1	0	11	51					T	6643477	C	T	6643477	3	4	79	1	0	0	0	0	1	0	0	0	4298	739	26	2	470	2	DCHS1	11	6643477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5587	6643477	128363039	11758	22075											
DCHS1	8642	broad.mit.edu	37	chr11	6643989	6643989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcctgtgacattgggCcaggggctgcctcagccttg	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643989C>T	ENST00000299441.3	-	21	9329	c.8918G>A	c.(8917-8919)gGc>gAc	p.G2973D	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2973					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)			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)		TGACATTGGGCCAGGGGCTGC	0.637																																						ENST00000299441.3																			0				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						c.(8917-8919)gGc>gAc		dachsous cadherin-related 1							50	42	45					11																	6643989		2196	4288	6484	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643989C>T	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.8918G>A	11.37:g.6643989C>T	ENSP00000299441:p.Gly2973Asp						p.G2973D	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9329	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2973					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8918G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683073	0.47991	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	4.71	3.75	0.43078	.	0.503830	0.15243	N	0.272800	T	0.54367	0.1854	L	0.42245	1.32	0.38260	D	0.941842	D	0.58970	0.984	P	0.52109	0.69	T	0.55780	-0.8087	10	0.37606	T	0.19	.	13.0641	0.59024	0.1608:0.8392:0.0:0.0	.	2973	Q96JQ0	PCD16_HUMAN	D	2973	ENSP00000299441:G2973D	ENSP00000299441:G2973D	G	-	2	0	DCHS1	6600565	0.364000	0.24997	1.000000	0.80357	0.983000	0.72400	0.174000	0.16743	2.450000	0.82876	0.655000	0.94253	GGC		0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	40	0	0	0	1	0	6	40					T	6643989	C	T	6643989	3	4	79	1	0	0	0	0	1	0	0	0	4298	739	26	2	982	2	DCHS1	11	6643989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	6643989	128362527	11759	22076											
DCHS1	8642	broad.mit.edu	37	chr11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcatctgtggcctgcAcgtgacccaagctgtggcca	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2835	Cadherin 27. {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)			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)		TGTGGCCTGCACGTGACCCAA	0.567																																						ENST00000299441.3																			0				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						c.(8503-8505)gTg>gCg		dachsous cadherin-related 1							33	30	31					11																	6644403		2200	4293	6493	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644403A>G	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.8504T>C	11.37:g.6644403A>G	ENSP00000299441:p.Val2835Ala						p.V2835A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8915	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2835			Cadherin 27.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8504T>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934826	0.73442	.	.	ENSG00000166341	ENST00000299441	T	0.68624	-0.34	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.81740	0.4886	M	0.89968	3.075	0.58432	D	0.999998	D	0.67145	0.996	P	0.58266	0.836	D	0.85659	0.1287	10	0.62326	D	0.03	.	13.6294	0.62186	1.0:0.0:0.0:0.0	.	2835	Q96JQ0	PCD16_HUMAN	A	2835	ENSP00000299441:V2835A	ENSP00000299441:V2835A	V	-	2	0	DCHS1	6600979	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.139000	0.94554	2.092000	0.63282	0.533000	0.62120	GTG		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	53	0	0	0	1	0	9	53					G	6644403	A	G	6644403	3	3	79	1	0	0	0	0	1	0	0	0	4298	159	6	4	1396	4	DCHS1	11	6644403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	6644403	128362113	11760	22077											
DCHS1	8642	broad.mit.edu	37	chr11	6644979	6644979	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagccctgatgggtcgcctGagctgacagtgaaacgcacg	14	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644979G>A	ENST00000299441.3	-	21	8339	c.7928C>T	c.(7927-7929)tCa>tTa	p.S2643L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2643	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)			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)		TGGGTCGCCTGAGCTGACAGT	0.597																																						ENST00000299441.3																			0				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						c.(7927-7929)tCa>tTa		dachsous cadherin-related 1							76	68	71					11																	6644979		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644979G>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.7928C>T	11.37:g.6644979G>A	ENSP00000299441:p.Ser2643Leu						p.S2643L	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2643			Cadherin 25.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7928C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929099	0.73327	.	.	ENSG00000166341	ENST00000299441	T	0.43294	0.95	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.38005	N	0.001853	T	0.68109	0.2965	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.70857	-0.4758	10	0.59425	D	0.04	.	17.9244	0.88979	0.0:0.0:1.0:0.0	.	2643	Q96JQ0	PCD16_HUMAN	L	2643	ENSP00000299441:S2643L	ENSP00000299441:S2643L	S	-	2	0	DCHS1	6601555	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.442000	0.80503	2.822000	0.97130	0.650000	0.86243	TCA		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	369	0	0	0	1	0	9	369					A	6644979	G	A	6644979	3	1	79	1	0	0	0	0	1	0	0	0	4298	1294	45	2	1972	2	DCHS1	11	6644979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576	6644979	128361537	11761	22078											
DCHS1	8642	broad.mit.edu	37	chr11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgctgtagtccacagCggcatggctgcggcttccat	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2517	Cadherin 24. {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.A2517T(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)		TAGTCCACAGCGGCATGGCTG	0.632																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.A2517T(1)	endometrium(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						c.(7549-7551)Gct>Act		dachsous cadherin-related 1							27	28	28					11																	6645358		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645358C>T	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.7549G>A	11.37:g.6645358C>T	ENSP00000299441:p.Ala2517Thr						p.A2517T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	7960	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2517			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7549G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987492	0.02180	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	4.78	-3.44	0.04796	Cadherin (4);Cadherin-like (1);	0.801687	0.10522	N	0.664820	T	0.24236	0.0587	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27706	-1.0066	10	0.13470	T	0.59	.	6.5608	0.22485	0.1193:0.4814:0.0:0.3993	.	2517	Q96JQ0	PCD16_HUMAN	T	2517	ENSP00000299441:A2517T	ENSP00000299441:A2517T	A	-	1	0	DCHS1	6601934	0.001000	0.12720	0.781000	0.31783	0.363000	0.29612	0.260000	0.18424	-0.169000	0.10834	0.462000	0.41574	GCT		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		21	83	0	0	0	1	0	21	83					T	6645358	C	T	6645358	3	4	79	1	0	0	0	0	1	0	0	0	4298	768	27	1	2351	1	DCHS1	11	6645358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	6645358	128361158	11762	22079											
DCHS1	8642	broad.mit.edu	37	chr11	6647793	6647793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcttacctgtactaggCtggatggagaatgtcccttt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2118	Cadherin 20. {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)			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)		CTGTACTAGGCTGGATGGAGA	0.542																																						ENST00000299441.3																			0				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						c.(6352-6354)caG>caA		dachsous cadherin-related 1							150	142	145					11																	6647793		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6647793C>T	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.6354G>A	11.37:g.6647793C>T							p.Q2118Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	15	6765	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2118			Cadherin 20.		O15098	Silent	SNP	ENST00000299441.3	37	c.6354G>A	CCDS7771.1																																																																																				0.542	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		35	446	0	0	0	1	0	35	446					T	6647793	C	T	6647793	2	4	79	1	0	0	0	0	0	0	0	1	4298	796	28	2		2	DCHS1	11	6647793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	6647793	128358723	11763	22080											
DCHS1	8642	broad.mit.edu	37	chr11	6651036	6651036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcgacactgacggtcagGacctgcgtggccgagcgcgg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1634	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.V1634V(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)		TGACGGTCAGGACCTGCGTGG	0.642																																						ENST00000299441.3																			1	Substitution - coding silent(1)	p.V1634V(1)	lung(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						c.(4900-4902)gtC>gtT		dachsous cadherin-related 1							46	46	46					11																	6651036		2200	4295	6495	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651036G>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.4902C>T	11.37:g.6651036G>A							p.V1634V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5313	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1634			Cadherin 15.		O15098	Silent	SNP	ENST00000299441.3	37	c.4902C>T	CCDS7771.1																																																																																				0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	334	0	0	0	1	0	7	334					A	6651036	G	A	6651036	2	1	79	1	0	0	0	0	0	0	0	1	4298	1161	41	2		2	DCHS1	11	6651036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3243	6651036	128355480	11764	22081											
DCHS1	8642	broad.mit.edu	37	chr11	6651110	6651110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtgctcagctcgttgttCgcggtccaacggccgcacca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651110C>T	ENST00000299441.3	-	11	5239	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1610	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)			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)		GCTCGTTGTTCGCGGTCCAAC	0.657																																						ENST00000299441.3																			0				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						c.(4828-4830)Gaa>Aaa		dachsous cadherin-related 1							46	46	46					11																	6651110		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651110C>T	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.4828G>A	11.37:g.6651110C>T	ENSP00000299441:p.Glu1610Lys						p.E1610K	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5239	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1610			Cadherin 15.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4828G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338642	0.81911	.	.	ENSG00000166341	ENST00000299441	T	0.72394	-0.65	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000161	D	0.88654	0.6495	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91215	0.5002	10	0.62326	D	0.03	.	17.6847	0.88253	0.0:1.0:0.0:0.0	.	1610	Q96JQ0	PCD16_HUMAN	K	1610	ENSP00000299441:E1610K	ENSP00000299441:E1610K	E	-	1	0	DCHS1	6607686	1.000000	0.71417	0.778000	0.31720	0.149000	0.21700	5.937000	0.70162	2.668000	0.90789	0.563000	0.77884	GAA		0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		73	274	0	0	0	1	0	73	274					T	6651110	C	T	6651110	3	4	79	1	0	0	0	0	1	0	0	0	4298	893	31	1	5112	1	DCHS1	11	6651110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	6651110	128355406	11765	22082											
DCHS1	8642	broad.mit.edu	37	chr11	6652301	6652301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcaccagcagctggaGgctggcacttcgaggagggc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	ENST00000299441.3	-	9	4324	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1305	Cadherin 12. {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)			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)		AGCAGCTGGAGGCTGGCACTT	0.617																																						ENST00000299441.3																			0				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						c.(3913-3915)Ctc>Atc		dachsous cadherin-related 1							35	28	31					11																	6652301		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652301G>T	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.3913C>A	11.37:g.6652301G>T	ENSP00000299441:p.Leu1305Ile					RP11-732A19.6_ENST00000526633.1_RNA	p.L1305I	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	4324	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1305			Cadherin 12.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3913C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792351	0.16258	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	4.73	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003226	T	0.30039	0.0752	N	0.17631	0.505	0.25427	N	0.988219	B	0.12013	0.005	B	0.16289	0.015	T	0.13953	-1.0490	10	0.18710	T	0.47	.	11.1874	0.48664	0.0:0.0:0.8158:0.1842	.	1305	Q96JQ0	PCD16_HUMAN	I	1305	ENSP00000299441:L1305I	ENSP00000299441:L1305I	L	-	1	0	DCHS1	6608877	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	1.122000	0.31295	1.185000	0.42971	0.467000	0.42956	CTC		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	135	1	0	2.62699e-14	1	2.8508e-14	13	135					T	6652301	G	T	6652301	3	4	79	1	0	0	0	0	1	0	0	0	4298	1000	35	3	6035	3	DCHS1	11	6652301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	6652301	128354215	11766	22083											
DCHS1	8642	broad.mit.edu	37	chr11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatagtccagtgaggcaGccgtagtgataatgcctgag	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	533	Cadherin 5. {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)			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)		CAGTGAGGCAGCCGTAGTGAT	0.587																																						ENST00000299441.3																			0				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						c.(1597-1599)gCt>gTt		dachsous cadherin-related 1							78	73	75					11																	6661247		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661247G>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.1598C>T	11.37:g.6661247G>A	ENSP00000299441:p.Ala533Val						p.A533V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2009	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	533			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1598C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050784	0.08243	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.181621	0.26711	N	0.022890	T	0.57227	0.2039	L	0.28115	0.83	0.37390	D	0.912414	D	0.76494	0.999	D	0.83275	0.996	T	0.59685	-0.7408	10	0.36615	T	0.2	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	533	Q96JQ0	PCD16_HUMAN	V	533	ENSP00000299441:A533V	ENSP00000299441:A533V	A	-	2	0	DCHS1	6617823	1.000000	0.71417	0.231000	0.23993	0.408000	0.30992	3.776000	0.55356	2.588000	0.87417	0.579000	0.79373	GCT		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		69	225	0	0	0	1	0	69	225					A	6661247	G	A	6661247	3	1	79	1	0	0	0	0	1	0	0	0	4298	971	34	2	8378	2	DCHS1	11	6661247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8946	6661247	128345269	11767	22084											
DCHS1	8642	broad.mit.edu	37	chr11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggtcattgatgtccaGcagtgtcacgtccagcaggg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2. {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)			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)		TTGATGTCCAGCAGTGTCACG	0.607																																						ENST00000299441.3																			0				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						c.(736-738)Ctg>Atg		dachsous cadherin-related 1							105	105	105					11																	6662109		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662109G>T	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.736C>A	11.37:g.6662109G>T	ENSP00000299441:p.Leu246Met						p.L246M	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1147	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	246			Cadherin 2.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.736C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	DCHS1	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		40	576	1	0	1.07121e-22	1	1.21384e-22	40	576					T	6662109	G	T	6662109	3	4	79	1	0	0	0	0	1	0	0	0	4298	962	34	3	9240	3	DCHS1	11	6662109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	862	6662109	128344407	11768	22085											
OR2AG2	338755	broad.mit.edu	37	chr11	6790159	6790159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaccaagatgaagccGcttcccaaggtggagttccg	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S10S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATGAAGCCGCTTCCCAAGG	0.443																																						ENST00000338569.2																			1	Substitution - coding silent(1)	p.S10S(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(28-30)agC>agT		olfactory receptor, family 2, subfamily AG, member 2							77	77	77					11																	6790159		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790159G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.30C>T	11.37:g.6790159G>A							p.S10S	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	127	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	10						Silent	SNP	ENST00000338569.2	37	c.30C>T	CCDS31413.1																																																																																				0.443	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		13	269	0	0	0	1	0	13	269					A	6790159	G	A	6790159	2	1	79	1	0	0	0	0	0	0	0	1	11027	1078	38	1		1	OR2AG2	11	6790159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128050	6790159	128216357	11769	22086											
OR6A2	8590	broad.mit.edu	37	chr11	6816484	6816484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacctccagcccaagaGccagcagccatctgcacaca	6	18	1	1	rs555709554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCCCAAGAGCCAGCAGCCA	0.498																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(454-456)ggC>ggT		olfactory receptor, family 6, subfamily A, member 2							72	71	71					11																	6816484		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816484G>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.456C>T	11.37:g.6816484G>A							p.G152G	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	644	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	152					Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.456C>T	CCDS7772.1																																																																																				0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		17	273	0	0	0	1	0	17	273					A	6816484	G	A	6816484	2	1	79	1	0	0	0	0	0	0	0	1	11228	958	34	2		2	OR6A2	11	6816484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26325	6816484	128190032	11770	22087											
OR6A2	8590	broad.mit.edu	37	chr11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataccagatctccagaaagGacatattagctagaaaaaag	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	68					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAGAAAGGACATATTAGC	0.438																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(202-204)tCc>tTc		olfactory receptor, family 6, subfamily A, member 2							155	143	147					11																	6816737		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816737G>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.203C>T	11.37:g.6816737G>A	ENSP00000330384:p.Ser68Phe						p.S68F	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	391	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	68					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.203C>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770423	0.69992	.	.	ENSG00000184933	ENST00000332601	T	0.12361	2.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.47710	0.1460	M	0.92604	3.325	0.39007	D	0.959472	D	0.89917	1.0	D	0.91635	0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	16.0847	0.81038	0.0:0.0:1.0:0.0	.	68	O95222	OR6A2_HUMAN	F	68	ENSP00000330384:S68F	ENSP00000330384:S68F	S	-	2	0	OR6A2	6773313	0.937000	0.31787	1.000000	0.80357	0.981000	0.71138	4.006000	0.57083	2.741000	0.93983	0.655000	0.94253	TCC		0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		107	422	0	0	0	1	0	107	422					A	6816737	G	A	6816737	3	1	79	1	0	0	0	0	1	0	0	0	11228	1174	41	2	784	2	OR6A2	11	6816737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	6816737	128189779	11771	22088											
OR6A2	8590	broad.mit.edu	37	chr11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtagtggcgcaggagCagggaagcccagcaacacaa	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCGCAGGAGCAGGGAAGCCC	0.498																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(58-60)Gct>Act		olfactory receptor, family 6, subfamily A, member 2							126	98	108					11																	6816882		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816882C>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.58G>A	11.37:g.6816882C>T	ENSP00000330384:p.Ala20Thr						p.A20T	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	246	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	20					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.58G>A	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204918	0.06180	.	.	ENSG00000184933	ENST00000332601	T	0.00438	7.42	4.75	3.84	0.44239	.	0.277043	0.24766	N	0.035767	T	0.00178	0.0005	N	0.02334	-0.595	0.30921	N	0.728018	P	0.48764	0.915	P	0.45276	0.475	T	0.45804	-0.9236	10	0.05833	T	0.94	.	7.4668	0.27326	0.0:0.8079:0.0:0.1921	.	20	O95222	OR6A2_HUMAN	T	20	ENSP00000330384:A20T	ENSP00000330384:A20T	A	-	1	0	OR6A2	6773458	0.000000	0.05858	0.980000	0.43619	0.035000	0.12851	0.027000	0.13621	1.368000	0.46115	0.655000	0.94253	GCT		0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		68	316	0	0	0	1	0	68	316					T	6816882	C	T	6816882	3	4	79	1	0	0	0	0	1	0	0	0	11228	710	25	2	929	2	OR6A2	11	6816882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	6816882	128189634	11772	22089											
OR10A5	144124	broad.mit.edu	37	chr11	6867249	6867249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttggggtagctgaAtgcttcctcctggctaccat	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(334-336)gaA>gaG		olfactory receptor, family 10, subfamily A, member 5							122	120	121					11																	6867249		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867249A>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.336A>G	11.37:g.6867249A>G						OR10A5_ENST00000379831.2_Silent_p.E116E	p.E112E			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	367	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	112					O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.336A>G	CCDS7773.1																																																																																				0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		151	617	0	0	0	1	0	151	617					G	6867249	A	G	6867249	2	3	79	1	0	0	0	0	0	0	0	1	10935	98	4	4		4	OR10A5	11	6867249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50367	6867249	128139267	11773	22090											
OR2D2	120776	broad.mit.edu	37	chr11	6913006	6913006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccaccatgaggtgggaGccacaggtagaaaatgcctt	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(724-726)ggC>ggT		olfactory receptor, family 2, subfamily D, member 2							84	79	81					11																	6913006		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913006G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.726C>T	11.37:g.6913006G>A							p.G242G	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	824	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	242					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.726C>T	CCDS31416.1																																																																																				0.428	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		55	194	0	0	0	1	0	55	194					A	6913006	G	A	6913006	2	1	79	1	0	0	0	0	0	0	0	1	11036	958	34	2		2	OR2D2	11	6913006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45757	6913006	128093510	11774	22091											
OR2D2	120776	broad.mit.edu	37	chr11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaagaaatgagcaatgCtgttactgcctcggtagggt	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	173					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)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(517-519)aGc>aAc		olfactory receptor, family 2, subfamily D, member 2							106	86	93					11																	6913214		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913214C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.518G>A	11.37:g.6913214C>T	ENSP00000299459:p.Ser173Asn						p.S173N	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	616	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	173					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.518G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	0.987	-0.695286	0.03303	.	.	ENSG00000166368	ENST00000299459	T	0.00107	8.72	5.12	-8.63	0.00878	GPCR, rhodopsin-like superfamily (1);	0.510233	0.18384	N	0.142866	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.47407	-0.9120	10	0.25751	T	0.34	-1.6953	0.3389	0.00330	0.2455:0.2205:0.1771:0.3569	.	173	Q9H210	OR2D2_HUMAN	N	173	ENSP00000299459:S173N	ENSP00000299459:S173N	S	-	2	0	OR2D2	6869790	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-2.039000	0.01418	-2.057000	0.00897	-1.792000	0.00626	AGC		0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		51	217	0	0	0	1	0	51	217					T	6913214	C	T	6913214	3	4	79	1	0	0	0	0	1	0	0	0	11036	797	28	2	411	2	OR2D2	11	6913214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	6913214	128093302	11775	22092											
NLRP14	338323	broad.mit.edu	37	chr11	7060067	7060067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttggcaagatgaacCtgaaggatctgtgtgagaga	12	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7060067C>A	ENST00000299481.4	+	2	596	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAGATGAACCTGAAGGATCT	0.502																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(250-252)Ctg>Atg		NLR family, pyrin domain containing 14							62	65	64					11																	7060067		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060067C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.250C>A	11.37:g.7060067C>A	ENSP00000299481:p.Leu84Met						p.L84M	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	596	+			84			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.250C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261442	0.23051	.	.	ENSG00000158077	ENST00000299481	T	0.51817	0.69	4.08	2.21	0.28008	Pyrin (2);DEATH-like (2);	0.000000	0.36665	N	0.002478	T	0.61813	0.2377	M	0.77313	2.365	0.22552	N	0.998991	D	0.89917	1.0	D	0.81914	0.995	T	0.49204	-0.8964	10	0.35671	T	0.21	.	6.4316	0.21801	0.0:0.7794:0.0:0.2206	.	84	Q86W24	NAL14_HUMAN	M	84	ENSP00000299481:L84M	ENSP00000299481:L84M	L	+	1	2	NLRP14	7016643	0.998000	0.40836	0.999000	0.59377	0.355000	0.29361	0.801000	0.27055	0.686000	0.31488	-0.140000	0.14226	CTG		0.502	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	193	1	0	5.18039e-06	1	5.32547e-06	6	193					A	7060067	C	A	7060067	3	1	79	1	0	0	0	0	1	0	0	0	10518	680	24	3	252	3	NLRP14	11	7060067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146853	7060067	127946449	11776	22093											
NLRP14	338323	broad.mit.edu	37	chr11	7063707	7063707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggaaagcctgaagatttCcatcatggaattgcagagaa	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(448-450)ttC>ttT		NLR family, pyrin domain containing 14							70	78	75					11																	7063707		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063707C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.450C>T	11.37:g.7063707C>T							p.F150F	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	796	+			150					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.450C>T	CCDS7776.1																																																																																				0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		91	341	0	0	0	1	0	91	341					T	7063707	C	T	7063707	2	4	79	1	0	0	0	0	0	0	0	1	10518	854	30	2		2	NLRP14	11	7063707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3640	7063707	127942809	11777	22094											
NLRP14	338323	broad.mit.edu	37	chr11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgtggtctcacagaGgctggctgtgagtatctttc	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2485-2487)gaG>gaT		NLR family, pyrin domain containing 14							162	151	155					11																	7079535		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079535G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2487G>T	11.37:g.7079535G>T	ENSP00000299481:p.Glu829Asp						p.E829D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2833	+			829					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2487G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050293	0.01981	.	.	ENSG00000158077	ENST00000299481	T	0.19806	2.12	4.06	1.68	0.24146	.	0.403035	0.18198	N	0.148618	T	0.09202	0.0227	N	0.16478	0.41	0.09310	N	1	B	0.31435	0.323	B	0.29176	0.099	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.9839	0.05962	0.6653:0.0:0.1217:0.213	.	829	Q86W24	NAL14_HUMAN	D	829	ENSP00000299481:E829D	ENSP00000299481:E829D	E	+	3	2	NLRP14	7036111	0.000000	0.05858	0.287000	0.24848	0.436000	0.31835	-0.474000	0.06607	0.231000	0.21079	-1.107000	0.02091	GAG		0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		103	438	1	0	2.14978e-47	1	2.64632e-47	103	438					T	7079535	G	T	7079535	3	4	79	1	0	0	0	0	1	0	0	0	10518	991	35	3	2513	3	NLRP14	11	7079535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	7079535	127926981	11778	22095											
RBMXL2	27288	broad.mit.edu	37	chr11	7110430	7110430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagaaagccctcgaagccGagtttggcaagtatggccgc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7110430G>A	ENST00000306904.5	+	1	266	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCGAAGCCGAGTTTGGCAA	0.587																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(79-81)Gag>Aag		RNA binding motif protein, X-linked-like 2							41	43	42					11																	7110430		2201	4296	6497	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110430G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.79G>A	11.37:g.7110430G>A	ENSP00000304139:p.Glu27Lys						p.E27K	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	266	+			27			RRM.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.79G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174042	0.21704	.	.	ENSG00000170748	ENST00000306904	D	0.85629	-2.01	2.39	1.41	0.22369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.871484	0.09940	U	0.736117	T	0.69833	0.3155	N	0.11106	0.095	0.09310	N	1	P	0.42973	0.796	B	0.39217	0.294	T	0.61237	-0.7103	10	0.59425	D	0.04	.	6.7648	0.23560	0.1649:0.0:0.8351:0.0	.	27	O75526	HNRGT_HUMAN	K	27	ENSP00000304139:E27K	ENSP00000304139:E27K	E	+	1	0	RBMXL2	7067006	0.420000	0.25457	0.048000	0.18961	0.842000	0.47809	2.859000	0.48364	0.499000	0.27970	0.455000	0.32223	GAG		0.587	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		5	124	0	0	0	1	0	5	124					A	7110430	G	A	7110430	3	1	79	1	0	0	0	0	1	0	0	0	13204	1059	37	1	81	1	RBMXL2	11	7110430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30895	7110430	127896086	11779	22096											
RBMXL2	27288	broad.mit.edu	37	chr11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccggagcgaccgctactCgaggggccgacaccgggtgg	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	337	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1009-1011)tCg>tTg		RNA binding motif protein, X-linked-like 2							21	22	22					11																	7111361		2200	4295	6495	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111361C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1010C>T	11.37:g.7111361C>T	ENSP00000304139:p.Ser337Leu						p.S337L	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1197	+			337			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.1010C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883498	0.51908	.	.	ENSG00000170748	ENST00000306904	T	0.77489	-1.1	3.73	2.81	0.32909	.	0.078186	0.53938	U	0.000043	T	0.67515	0.2901	L	0.39147	1.195	0.41031	D	0.985153	D	0.53619	0.961	B	0.40285	0.325	T	0.71364	-0.4615	10	0.62326	D	0.03	.	11.6572	0.51325	0.0:0.8191:0.1809:0.0	.	337	O75526	HNRGT_HUMAN	L	337	ENSP00000304139:S337L	ENSP00000304139:S337L	S	+	2	0	RBMXL2	7067937	0.999000	0.42202	0.896000	0.35187	0.880000	0.50808	4.144000	0.58057	1.129000	0.42072	0.563000	0.77884	TCG		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		27	156	0	0	0	1	0	27	156					T	7111361	C	T	7111361	3	4	79	1	0	0	0	0	1	0	0	0	13204	893	31	1	1012	1	RBMXL2	11	7111361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	931	7111361	127895155	11780	22097											
RBMXL2	27288	broad.mit.edu	37	chr11	7111476	7111476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagggtgcccaggggCggaggccgtctaggaggccg	21	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	375	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCAGGGGCGGAGGCCGTC	0.602																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1123-1125)ggC>ggT		RNA binding motif protein, X-linked-like 2							11	13	12					11																	7111476		2199	4293	6492	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111476C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1125C>T	11.37:g.7111476C>T							p.G375G	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1312	+			375			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.1125C>T	CCDS7777.1																																																																																				0.602	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		19	84	0	0	0	1	0	19	84					T	7111476	C	T	7111476	2	4	79	1	0	0	0	0	0	0	0	1	13204	755	27	1		1	RBMXL2	11	7111476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	7111476	127895040	11781	22098											
SYT9	143425	broad.mit.edu	37	chr11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaagtaggcaacgagGctgagaggctgggcagagac	17	7	1	2	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	462					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCAACGAGGCTGAGAGGCT	0.468																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1384-1386)Gct>Act		synaptotagmin IX							174	149	157					11																	7441783		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441783G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1384G>A	11.37:g.7441783G>A	ENSP00000324419:p.Ala462Thr						p.A462T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1621	+			462						Missense_Mutation	SNP	ENST00000318881.6	37	c.1384G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650448	0.87958	.	.	ENSG00000170743	ENST00000318881	T	0.71341	-0.56	5.64	4.72	0.59763	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000026	T	0.74222	0.3688	L	0.51853	1.615	0.80722	D	1	P	0.45569	0.861	P	0.51701	0.677	T	0.76130	-0.3072	10	0.59425	D	0.04	.	13.7524	0.62915	0.0:0.0:0.845:0.1549	.	462	Q86SS6	SYT9_HUMAN	T	462	ENSP00000324419:A462T	ENSP00000324419:A462T	A	+	1	0	SYT9	7398359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.644000	0.74338	1.361000	0.45981	0.655000	0.94253	GCT		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		80	344	0	0	0	1	0	80	344					A	7441783	G	A	7441783	3	1	79	1	0	0	0	0	1	0	0	0	15533	1203	42	2	1406	2	SYT9	11	7441783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330307	7441783	127564733	11782	22099											
PPFIBP2	8495	broad.mit.edu	37	chr11	7654163	7654163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaaatcactggaaacCaggtaagaggcctgggcatt	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000299492.4	+	12	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530181.1_Silent_p.T235T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	378					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CACTGGAAACCAGGTAAGAGG	0.562																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1132-1134)acC>acT		PTPRF interacting protein, binding protein 2 (liprin beta 2)							89	75	80					11																	7654163		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7654163C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1134C>T	11.37:g.7654163C>T						PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530181.1_Silent_p.T235T|PPFIBP2_ENST00000528883.1_Silent_p.T266T	p.T378T	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	12	1522	+			378					B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.1134C>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937398	0.34189	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.35	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2833	6.8839	0.24189	0.3726:0.466:0.1614:0.0	.	.	.	.	X	58	.	.	Q	+	1	0	PPFIBP2	7610739	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.126000	0.31344	1.231000	0.43661	0.561000	0.74099	CAG		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		23	124	0	0	0	1	0	23	124					T	7654163	C	T	7654163	2	4	79	1	0	0	0	0	0	0	0	1	12356	581	21	2		2	PPFIBP2	11	7654163	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212380	7654163	127352353	11783	22100											
PPFIBP2	8495	broad.mit.edu	37	chr11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctatgcttctcaacaTccccccacaaaagacgctcc	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000299492.4	+	23	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAA	0.552																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2296-2298)aTc>aCc		PTPRF interacting protein, binding protein 2 (liprin beta 2)							132	115	121					11																	7672936		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7672936T>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2297T>C	11.37:g.7672936T>C	ENSP00000299492:p.Ile766Thr					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T	p.I766T	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2685	+			766			SAM 3.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2297T>C	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488844	0.84962	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.93462	3.42	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	0.96012	0.9002	10	0.87932	D	0	-18.7694	14.3292	0.66541	0.0:0.0:0.0:1.0	.	654;654;689;608;623;766	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	766;107;608;689;654;623	ENSP00000299492:I766T;ENSP00000436498:I608T;ENSP00000435469:I654T;ENSP00000437321:I623T	ENSP00000299492:I766T	I	+	2	0	PPFIBP2	7629512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	ATC		0.552	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		78	308	0	0	0	1	0	78	308					C	7672936	T	C	7672936	3	2	79	1	0	0	0	0	1	0	0	0	12356	1435	50	4	2383	4	PPFIBP2	11	7672936	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18773	7672936	127333580	11784	22101											
OVCH2	341277	broad.mit.edu	37	chr11	7721940	7721940	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacattgtttctccaGcctcgaccacagcccaaacc	4	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000534193.2	-	0	830				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGTTTCTCCAGCCTCGACCAC	0.517																																						ENST00000454689.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15								ovochymase 2 (gene/pseudogene)							83	80	81					11																	7721940		1980	4158	6138			341277							g.chr11:7721940G>T	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7721940G>T						OVCH2_ENST00000534193.1_RNA		NM_198185.3	NP_937828.3				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	0	803	-									RNA	SNP	ENST00000534193.2	37																																																																																						0.517	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000383929.7	NM_198185		15	104	1	0	2.31682e-05	1	2.36778e-05	15	104					T	7721940	G	T	7721940	1	4	79	0	1	0	0	0	0	0	0	0	11366	958	34	3		3	OVCH2	11	7721940	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49004	7721940	127284576	11785	22102											
OR5P2	120065	broad.mit.edu	37	chr11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggagctgagaagaaattCtgataagaataattatgctg	11	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(136-138)aGa>aTa		olfactory receptor, family 5, subfamily P, member 2							59	75	70					11																	7818353		2102	4292	6394	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818353C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.137G>T	11.37:g.7818353C>A	ENSP00000331823:p.Arg46Ile					RP11-35J10.5_ENST00000527565.1_lincRNA	p.R46I	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	167	-			46					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.137G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688518	0.14973	.	.	ENSG00000183303	ENST00000329434	T	0.02863	4.13	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.157917	0.45361	D	0.000368	T	0.02727	0.0082	L	0.33093	0.98	0.39969	D	0.974769	B	0.23854	0.092	B	0.24269	0.052	T	0.52034	-0.8629	10	0.30854	T	0.27	-18.3288	7.6182	0.28171	0.0:0.749:0.1654:0.0856	.	46	Q8WZ92	OR5P2_HUMAN	I	46	ENSP00000331823:R46I	ENSP00000331823:R46I	R	-	2	0	OR5P2	7774929	0.010000	0.17322	0.986000	0.45419	0.040000	0.13550	0.158000	0.16422	1.564000	0.49628	0.555000	0.69702	AGA		0.413	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		65	208	1	0	1.20869e-33	1	1.43362e-33	65	208					A	7818353	C	A	7818353	3	1	79	1	0	0	0	0	1	0	0	0	11220	913	32	3	835	3	OR5P2	11	7818353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96413	7818353	127188163	11786	22103											
OR5P3	120066	broad.mit.edu	37	chr11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcccatagaacagagTgactgcagtgaggtgggagg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		TAGAACAGAGTGACTGCAGTG	0.507																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(745-747)Act>Cct		olfactory receptor, family 5, subfamily P, member 3							141	122	128					11																	7846775		2190	4296	6486	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846775T>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.745A>C	11.37:g.7846775T>G	ENSP00000332068:p.Thr249Pro					RP11-35J10.5_ENST00000527565.1_lincRNA	p.T249P	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	744	-			249					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.745A>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483494	0.63962	.	.	ENSG00000182334	ENST00000328375	T	0.39997	1.05	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.73148	0.3550	H	0.95224	3.64	0.27285	N	0.958003	D	0.76494	0.999	D	0.77004	0.989	T	0.73059	-0.4102	10	0.72032	D	0.01	-24.1436	12.9161	0.58207	0.0:0.0:0.0:1.0	.	249	Q8WZ94	OR5P3_HUMAN	P	249	ENSP00000332068:T249P	ENSP00000332068:T249P	T	-	1	0	OR5P3	7803351	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.147000	0.66899	0.528000	0.53228	ACT		0.507	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		65	328	0	0	0	1	0	65	328					G	7846775	T	G	7846775	3	3	79	1	0	0	0	0	1	0	0	0	11221	1696	59	4	193	4	OR5P3	11	7846775	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28422	7846775	127159741	11787	22104											
OR10A6	390093	broad.mit.edu	37	chr11	7950054	7950054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaacgtggaggctctgGtctagggagacgatgactat	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGGCTCTGGTCTAGGGAGA	0.478																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(154-156)gaC>gaT		olfactory receptor, family 10, subfamily A, member 6							115	109	111					11																	7950054		2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950054G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.156C>T	11.37:g.7950054G>A							p.D52D	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	155	-			52					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.156C>T	CCDS31420.1																																																																																				0.478	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		116	527	0	0	0	1	0	116	527					A	7950054	G	A	7950054	2	1	79	1	0	0	0	0	0	0	0	1	10936	1252	44	2		2	OR10A6	11	7950054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103279	7950054	127056462	11788	22105											
NLRP10	338322	broad.mit.edu	37	chr11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgccttttccagtagAagcttccttttgtgttcctg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	639					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCAGTAGAAGCTTCCTTT	0.393																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1915-1917)Tct>Cct		NLR family, pyrin domain containing 10							110	101	104					11																	7981244		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981244A>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1915T>C	11.37:g.7981244A>G	ENSP00000327763:p.Ser639Pro						p.S639P	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2076	-			639					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1915T>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	7.079	0.569889	0.13560	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	3.06	-0.651	0.11454	.	0.639490	0.12224	N	0.488049	T	0.64125	0.2570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.50215	-0.8854	10	0.41790	T	0.15	.	3.156	0.06504	0.5467:0.2216:0.2317:0.0	.	639	Q86W26	NAL10_HUMAN	P	639	ENSP00000327763:S639P	ENSP00000327763:S639P	S	-	1	0	NLRP10	7937820	0.006000	0.16342	0.000000	0.03702	0.048000	0.14542	0.503000	0.22610	-0.136000	0.11475	0.460000	0.39030	TCT		0.393	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	296	0	0	0	1	0	10	296					G	7981244	A	G	7981244	3	3	79	1	0	0	0	0	1	0	0	0	10514	246	9	4	56	4	NLRP10	11	7981244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	7981244	127025272	11789	22106											
NLRP10	338322	broad.mit.edu	37	chr11	7981307	7981308	+	Frame_Shift_Ins	INS	-	-	T													tgtccatggacagaaggacaINStttttgctcctccttaggtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981307_7981308insT	ENST00000328600.2	-	2	2012_2013	c.1851_1852insA	c.(1849-1854)aaatgtfs	p.C618fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAAGGACATTTTTGCTCCT	0.396																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1849-1854)aagtccfs		NLR family, pyrin domain containing 10																																				SO:0001589	frameshift_variant	338322						ATP binding	g.chr11:7981307_7981308insT	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1852dupA	11.37:g.7981312_7981312dupT	ENSP00000327763:p.Cys618fs						p.S618fs	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2012_2013	-			618					Q2M3C4|Q6JGT0	Frame_Shift_Ins	INS	ENST00000328600.2	37	c.1851_1852insA	CCDS7784.1																																																																																				0.396	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		62	249						62	249	---	---	---	---	T	7981308	-	T	7981307	7	5	79	1	0	1	1	0	0	0	0	0	10514	217	8	0	119	0	NLRP10	11	7981307	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	63	7981307	127025209	11790	22107											
NLRP10	338322	broad.mit.edu	37	chr11	7982118	7982118	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaacctgacacgctttgtaGagaatgtcatttttctgtac	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGCTTTGTAGAGAATGTCAT	0.512																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1039-1041)ctC>ctT		NLR family, pyrin domain containing 10							90	81	84					11																	7982118		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982118G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1041C>T	11.37:g.7982118G>A							p.L347L	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1202	-			347			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1041C>T	CCDS7784.1																																																																																				0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		24	386	0	0	0	1	0	24	386					A	7982118	G	A	7982118	2	1	79	1	0	0	0	0	0	0	0	1	10514	929	33	2		2	NLRP10	11	7982118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811	7982118	127024398	11791	22108											
TUB	7275	broad.mit.edu	37	chr11	8117116	8117116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcagattctgactgtgGgccagtcagaccacgcccag	12	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8117116G>A	ENST00000299506.2	+	5	618	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	TUB_ENST00000534099.1_Missense_Mutation_p.G163S|TUB_ENST00000305253.4_Missense_Mutation_p.G212S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	157					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCTGACTGTGGGCCAGTCAGA	0.662																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(634-636)Ggc>Agc		tubby bipartite transcription factor							28	30	30					11																	8117116		2201	4293	6494	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117116G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.469G>A	11.37:g.8117116G>A	ENSP00000299506:p.Gly157Ser					TUB_ENST00000534099.1_Missense_Mutation_p.G163S|TUB_ENST00000299506.2_Missense_Mutation_p.G157S	p.G212S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	875	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	157					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.634G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149877	0.78001	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.0;-2.06;-2.0	5.38	5.38	0.77491	Tubby, N-terminal (1);	0.048878	0.85682	D	0.000000	D	0.87313	0.6146	L	0.28192	0.835	0.80722	D	1	D;P;D	0.89917	0.999;0.866;1.0	D;B;D	0.77004	0.922;0.252;0.989	D	0.85000	0.0899	10	0.24483	T	0.36	0.051	17.8888	0.88865	0.0:0.0:1.0:0.0	.	163;157;212	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	163;212;157	ENSP00000434400:G163S;ENSP00000305426:G212S;ENSP00000299506:G157S	ENSP00000299506:G157S	G	+	1	0	TUB	8073692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.962000	0.87912	2.531000	0.85337	0.561000	0.74099	GGC		0.662	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		5	165	0	0	0	1	0	5	165					A	8117116	G	A	8117116	3	1	79	1	0	0	0	0	1	0	0	0	16796	1232	43	2	698	2	TUB	11	8117116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134998	8117116	126889400	11792	22109											
TUB	7275	broad.mit.edu	37	chr11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcatgagctttgacgAggatgaggaggatgaggagg	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000299506.2	+	6	742	c.593A>C	c.(592-594)gAg>gCg	p.E198A	TUB_ENST00000534099.1_Missense_Mutation_p.E204A|TUB_ENST00000305253.4_Missense_Mutation_p.E253A	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	198	Asp/Glu-rich.				multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(757-759)gAg>gCg		tubby bipartite transcription factor							86	78	81					11																	8118259		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8118259A>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.593A>C	11.37:g.8118259A>C	ENSP00000299506:p.Glu198Ala					TUB_ENST00000534099.1_Missense_Mutation_p.E204A|TUB_ENST00000299506.2_Missense_Mutation_p.E198A	p.E253A	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	7	999	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	198					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.758A>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980035	0.53827	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.15;-2.17;-2.14	4.77	4.77	0.60923	.	0.098549	0.64402	D	0.000002	D	0.84759	0.5543	L	0.59436	1.845	0.80722	D	1	P;P;P	0.42941	0.74;0.524;0.794	B;B;B	0.39805	0.214;0.095;0.31	D	0.84937	0.0863	10	0.39692	T	0.17	-6.0846	14.5629	0.68153	1.0:0.0:0.0:0.0	.	204;198;253	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	A	204;253;198	ENSP00000434400:E204A;ENSP00000305426:E253A;ENSP00000299506:E198A	ENSP00000299506:E198A	E	+	2	0	TUB	8074835	1.000000	0.71417	0.987000	0.45799	0.671000	0.39405	8.654000	0.91092	1.906000	0.55180	0.402000	0.26972	GAG		0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		60	274	0	0	0	1	0	60	274					C	8118259	A	C	8118259	3	2	79	1	0	0	0	0	1	0	0	0	16796	304	11	4	826	4	TUB	11	8118259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1143	8118259	126888257	11793	22110											
RIC3	79608	broad.mit.edu	37	chr11	8159877	8159877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcccatcctctgcagtTgttttcccctttgagagctg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8159877T>C	ENST00000309737.6	-	3	368	c.369A>G	c.(367-369)acA>acG	p.T123T	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Silent_p.T123T|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.T74T			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	123					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTGCAGTTGTTTTCCCCT	0.433																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(367-369)acA>acG		RIC3 acetylcholine receptor chaperone							237	228	231					11																	8159877		2201	4296	6497	SO:0001819	synonymous_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159877T>C		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.369A>G	11.37:g.8159877T>C						RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T74T|RIC3_ENST00000309737.6_Silent_p.T123T	p.T123T	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	434	-			123					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	37	c.369A>G	CCDS55742.1																																																																																				0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		15	990	0	0	0	1	0	15	990					C	8159877	T	C	8159877	2	2	79	1	0	0	0	0	0	0	0	1	13404	1799	63	4		4	RIC3	11	8159877	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41618	8159877	126846639	11794	22111											
LMO1	4004	broad.mit.edu	37	chr11	8248572	8248572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggtgatacacgttgtcCcgggcccgcatcaccatctc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000428101.2_Silent_p.R104R|LMO1_ENST00000534484.1_Silent_p.R94R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																																ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"T, A"	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"T-ALL, neuroblastoma"		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(313-315)cgG>cgA		LIM domain only 1 (rhombotin 1)							54	62	59					11																	8248572		2110	4234	6344	SO:0001819	synonymous_variant	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8248572C>T	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.315G>A	11.37:g.8248572C>T						LMO1_ENST00000534484.1_Silent_p.R94R|LMO1_ENST00000428101.2_Silent_p.R104R	p.R105R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	3	810	-			105			LIM zinc-binding 2.		E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	37	c.315G>A	CCDS44534.1																																																																																				0.632	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		32	170	0	0	0	1	0	32	170					T	8248572	C	T	8248572	2	4	79	1	0	0	0	0	0	0	0	1	8884	610	22	2		2	LMO1	11	8248572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88695	8248572	126757944	11795	22112											
STK33	65975	broad.mit.edu	37	chr11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatatcaaagttgtccTtactggttgcaggaaattgc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	461					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1381-1383)aAg>aCg		serine/threonine kinase 33							119	110	113					11																	8414220		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414220T>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1382A>C	11.37:g.8414220T>G	ENSP00000416750:p.Lys461Thr					STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T	p.K461T			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2300	-			461					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1382A>C	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357246	0.61293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71817	-0.55;-0.55;-0.55;-0.6;2.02;2.02;-0.54	5.8	2.13	0.27403	.	0.169760	0.33572	N	0.004776	T	0.48003	0.1476	N	0.22421	0.69	0.22354	N	0.99918	P	0.43477	0.808	B	0.39706	0.307	T	0.33574	-0.9863	10	0.16896	T	0.51	.	5.0636	0.14570	0.3919:0.0:0.1627:0.4453	.	461	Q9BYT3	STK33_HUMAN	T	461;461;461;274;395;150;420	ENSP00000416750:K461T;ENSP00000320754:K461T;ENSP00000379905:K461T;ENSP00000351743:K274T;ENSP00000379906:K395T;ENSP00000415688:K150T;ENSP00000436418:K420T	ENSP00000320754:K461T	K	-	2	0	STK33	8370796	0.665000	0.27466	0.997000	0.53966	0.263000	0.26337	0.601000	0.24119	0.986000	0.38683	0.533000	0.62120	AAG		0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		92	316	0	0	0	1	0	92	316					G	8414220	T	G	8414220	3	3	79	1	0	0	0	0	1	0	0	0	15352	1609	56	4	166	4	STK33	11	8414220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165648	8414220	126592296	11796	22113											
ST5	6764	broad.mit.edu	37	chr11	8717975	8717975	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgataaccaagacttaccCtttgcccgacactttcttag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N	ST5_ENST00000526099.1_Splice_Site_p.K610N|ST5_ENST00000357665.1_Splice_Site_p.K1097N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Splice_Site_p.K288N|ST5_ENST00000530438.1_Splice_Site_p.K677N|ST5_ENST00000526757.1_Splice_Site_p.K677N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1097					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.e21+1		suppression of tumorigenicity 5							204	219	214					11																	8717975		2201	4296	6497	SO:0001630	splice_region_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8717975C>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3292+1G>T	11.37:g.8717975C>A						ST5_ENST00000526757.1_Splice_Site_p.K677_splice|ST5_ENST00000530438.1_Splice_Site_p.K677_splice|ST5_ENST00000313726.6_Splice_Site_p.K1097_splice|ST5_ENST00000534278.1_Splice_Site_p.K288_splice|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Splice_Site_p.K569_splice|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_Splice_Site_p.K1097_splice|ST5_ENST00000526099.1_Splice_Site_p.K610_splice	p.K1097_splice	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	21	3676	-			1097					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Splice_Site	SNP	ENST00000534127.1	37	c.3292_splice	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042502	0.55003	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.14640	3.0;3.3;3.3;3.01;3.3;3.0;2.49;3.0	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.52573	1.65	0.58432	D	0.999999	D;B;P	0.69078	0.997;0.389;0.63	D;B;B	0.64687	0.928;0.274;0.358	T	0.01059	-1.1465	10	0.87932	D	0	-16.4162	7.2537	0.26164	0.0:0.6408:0.0:0.3592	.	610;677;1097	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	677;1097;1097;569;1097;610;288;677	ENSP00000435097:K677N;ENSP00000433528:K1097N;ENSP00000319678:K1097N;ENSP00000432887:K569N;ENSP00000350294:K1097N;ENSP00000436808:K610N;ENSP00000433349:K288N;ENSP00000436802:K677N	ENSP00000319678:K1097N	K	-	3	2	ST5	8674551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.892000	0.39748	0.841000	0.35020	-0.140000	0.14226	AAG		0.488	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	Missense_Mutation	280	1310	1	0	1.29601e-68	1	1.64372e-68	280	1310					A	8717975	C	A	8717975	5	1	79	1	0	0	0	0	0	0	1	0	15272	695	24	3	134	3	ST5	11	8717975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303755	8717975	126288541	11797	22114											
ST5	6764	broad.mit.edu	37	chr11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctccagctccagcgtgCgatagctgggggcgcgcttc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000534127.1	-	12	2430	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_ENST00000526099.1_Missense_Mutation_p.R195H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000526757.1_Missense_Mutation_p.R262H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	682					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2044-2046)cGc>cAc		suppression of tumorigenicity 5							45	39	41					11																	8734225		2200	4296	6496	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8734225C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2045G>A	11.37:g.8734225C>T	ENSP00000433528:p.Arg682His					ST5_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|ST5_ENST00000526099.1_Missense_Mutation_p.R195H	p.R682H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	12	2430	-			682					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2045G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597627	0.66332	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.34072	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;1.38;2.91	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.36672	1.1	0.53688	D	0.999971	B;B;B	0.23442	0.012;0.085;0.069	B;B;B	0.17979	0.005;0.02;0.016	T	0.09465	-1.0673	10	0.54805	T	0.06	-12.5329	10.5888	0.45298	0.0:0.8518:0.0:0.1482	.	195;262;682	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	262;682;682;154;682;195;262;154;292;139;154	ENSP00000435097:R262H;ENSP00000433528:R682H;ENSP00000319678:R682H;ENSP00000432887:R154H;ENSP00000350294:R682H;ENSP00000436808:R195H;ENSP00000436802:R262H;ENSP00000433588:R154H;ENSP00000437096:R139H;ENSP00000431580:R154H	ENSP00000319678:R682H	R	-	2	0	ST5	8690801	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.689000	0.61723	2.467000	0.83353	0.655000	0.94253	CGC		0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		11	69	0	0	0	1	0	11	69					T	8734225	C	T	8734225	3	4	79	1	0	0	0	0	1	0	0	0	15272	768	27	1	1416	1	ST5	11	8734225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16250	8734225	126272291	11798	22115											
ST5	6764	broad.mit.edu	37	chr11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggctgtcttcatTgaggctggagggtgaggacg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000534127.1	-	9	2165	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_ENST00000526099.1_Missense_Mutation_p.N107D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000526757.1_Missense_Mutation_p.N174D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	594					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1780-1782)Aat>Gat		suppression of tumorigenicity 5							69	65	67					11																	8737215		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737215T>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1780A>G	11.37:g.8737215T>C	ENSP00000433528:p.Asn594Asp					ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D	p.N594D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2165	-			594					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1780A>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993474	0.54041	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.54	3.07	0.35406	.	0.278897	0.37136	N	0.002223	T	0.10895	0.0266	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41748	0.411;0.551;0.761	B;B;B	0.40565	0.145;0.333;0.247	T	0.09907	-1.0653	10	0.33940	T	0.23	-9.1996	12.045	0.53475	0.0:0.0:0.2738:0.7262	.	107;174;594	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	174;594;594;66;594;107;174;66;204;66;66;83	ENSP00000435097:N174D;ENSP00000433528:N594D;ENSP00000319678:N594D;ENSP00000432887:N66D;ENSP00000350294:N594D;ENSP00000436808:N107D;ENSP00000436802:N174D;ENSP00000433588:N66D;ENSP00000437096:N66D;ENSP00000431580:N66D;ENSP00000433858:N83D	ENSP00000319678:N594D	N	-	1	0	ST5	8693791	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	1.873000	0.39558	0.330000	0.23485	0.533000	0.62120	AAT		0.657	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		101	420	0	0	0	1	0	101	420					C	8737215	T	C	8737215	3	2	79	1	0	0	0	0	1	0	0	0	15272	1812	63	4	1693	4	ST5	11	8737215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2990	8737215	126269301	11799	22116											
ST5	6764	broad.mit.edu	37	chr11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtacagggactggagaCtggatgcatcctcaaactca	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N|ST5_ENST00000526757.1_Missense_Mutation_p.S37N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	457					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1369-1371)aGt>aAt		suppression of tumorigenicity 5							136	125	129					11																	8747727		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8747727C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1370G>A	11.37:g.8747727C>T	ENSP00000433528:p.Ser457Asn					ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000357665.1_Missense_Mutation_p.S457N	p.S457N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	7	1755	-			457					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1370G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640994	0.87859	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126	T;T;T;T;T	0.08634	3.07;3.41;3.41;3.41;3.07	5.92	5.92	0.95590	.	0.169793	0.64402	D	0.000004	T	0.19765	0.0475	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.915	P;B	0.54889	0.763;0.397	T	0.00019	-1.2358	10	0.45353	T	0.12	-10.4636	20.3207	0.98668	0.0:1.0:0.0:0.0	.	37;457	P78524-2;P78524	.;ST5_HUMAN	N	37;457;457;457;37;67;37;37;37;37;37;37	ENSP00000435097:S37N;ENSP00000433528:S457N;ENSP00000319678:S457N;ENSP00000350294:S457N;ENSP00000436802:S37N	ENSP00000319678:S457N	S	-	2	0	ST5	8704303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	AGT		0.458	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		76	300	0	0	0	1	0	76	300					T	8747727	C	T	8747727	3	4	79	1	0	0	0	0	1	0	0	0	15272	565	20	2	2111	2	ST5	11	8747727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10512	8747727	126258789	11800	22117											
C11orf16	56673	broad.mit.edu	37	chr11	8950933	8950933	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggacttgcctcgggagtGgcctttatttgggcccggta	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	105										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCTCGGGAGTGGCCTTTATTT	0.572																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(313-315)gcC>gcA		chromosome 11 open reading frame 16							109	103	105					11																	8950933		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8950933G>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.315C>A	11.37:g.8950933G>T						C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	p.A105A	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	3	421	-			105					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.315C>A	CCDS7794.1																																																																																				0.572	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		23	215	1	0	1.66031e-10	1	1.76115e-10	23	215					T	8950933	G	T	8950933	2	4	79	1	0	0	0	0	0	0	0	1	1636	1335	47	3		3	C11orf16	11	8950933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203206	8950933	126055583	11801	22118											
NRIP3	56675	broad.mit.edu	37	chr11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaggcccaagggacacGgggaccgcttcggagcttag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	81							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493																																						ENST00000309166.3																			0				large_intestine(1)|lung(4)|skin(1)|stomach(1)	7						c.(241-243)Cgt>Tgt		nuclear receptor interacting protein 3							148	137	141					11																	9009763		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009763G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"chromosome 11 open reading frame 14"	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.241C>T	11.37:g.9009763G>A	ENSP00000310205:p.Arg81Cys					NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	354	-			81					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.241C>T	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644065	0.87859	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.48201	0.82	6.06	5.14	0.70334	.	0.114972	0.64402	D	0.000015	T	0.58250	0.2109	L	0.51422	1.61	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.62651	-0.6809	10	0.72032	D	0.01	-34.6088	16.3598	0.83257	0.0:0.1324:0.8676:0.0	.	81	Q9NQ35	NRIP3_HUMAN	C	81;81;74	ENSP00000310205:R81C	ENSP00000310205:R81C	R	-	1	0	NRIP3	8966339	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	4.651000	0.61447	1.555000	0.49500	0.655000	0.94253	CGT		0.493	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		134	583	0	0	0	1	0	134	583					A	9009763	G	A	9009763	3	1	79	1	0	0	0	0	1	0	0	0	10696	1116	39	1	508	1	NRIP3	11	9009763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58830	9009763	125996753	11802	22119											
DENND5A	23258	broad.mit.edu	37	chr11	9164309	9164309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttttgaagagccggggCgatttaaatccatgctggaa	11	7	0	2	rs145302750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000328194.3	-	21	3791	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000530044.1_Silent_p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1157	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.0					ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3469-3471)tcG>tcA		DENN/MADD domain containing 5A		C		0,4402		0,0,2201	113	125	121		3471	-11.5	0.7	11	dbSNP_134	121	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	DENND5A	NM_015213.3		0,4,6493	TT,TC,CC		0.0466,0.0,0.0308		1157/1288	9164309	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9164309C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3471G>A	11.37:g.9164309C>T						DENND5A_ENST00000530044.1_Silent_p.S1157S|DENND5A_ENST00000527700.1_Silent_p.S500S	p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			21	3791	-			1157			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3471G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102341	0.20632	0.0	4.66E-4	ENSG00000184014	ENST00000528725;ENST00000533737	.	.	.	5.8	-11.5	0.00074	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	.	4.4113	0.11434	0.1371:0.3831:0.2786:0.2013	.	.	.	.	H	56;45	.	.	R	-	2	0	DENND5A	9120885	0.000000	0.05858	0.748000	0.31131	0.996000	0.88848	-2.145000	0.01295	-1.597000	0.01609	-0.238000	0.12139	CGC		0.512	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		162	740	0	0	0	1	0	162	740					T	9164309	C	T	9164309	2	4	79	1	0	0	0	0	0	0	0	1	4452	755	27	1		1	DENND5A	11	9164309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154546	9164309	125842207	11803	22120											
DENND5A	23258	broad.mit.edu	37	chr11	9166622	9166622	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagcccagagttatcatgGccaatctggacagtagtaag	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000328194.3	-	18	3362	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000530044.1_Silent_p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1014	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3040-3042)ggC>ggA		DENN/MADD domain containing 5A							155	131	139					11																	9166622		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9166622G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3042C>A	11.37:g.9166622G>T						DENND5A_ENST00000530044.1_Silent_p.G1014G|DENND5A_ENST00000527700.1_Silent_p.G357G	p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			18	3362	-			1014			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3042C>A	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.933|9.933	1.215366|1.215366	0.22373|0.22373	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.65|5.65	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54873|0.54873	-0.8228|-0.8228	4|4	.|.	.|.	.|.	-13.9587|-13.9587	8.5325|8.5325	0.33344|0.33344	0.0:0.1334:0.6002:0.2664|0.0:0.1334:0.6002:0.2664	.|.	.|.	.|.	.|.	D|T	62|185	.|.	.|.	A|P	-|-	2|1	0|0	DENND5A|DENND5A	9123198|9123198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.546000|1.546000	0.36179|0.36179	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		85	466	1	0	1.42748e-55	1	1.78476e-55	85	466					T	9166622	G	T	9166622	2	4	79	1	0	0	0	0	0	0	0	1	4452	1190	42	3		3	DENND5A	11	9166622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2313	9166622	125839894	11804	22121											
DENND5A	23258	broad.mit.edu	37	chr11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctggcatcagacttcCtacgttctgaatcaagaagt	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000328194.3	-	14	2866	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	849	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2545-2547)aGg>aTg		DENN/MADD domain containing 5A							142	126	132					11																	9172287		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9172287C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2546G>T	11.37:g.9172287C>A	ENSP00000328524:p.Arg849Met					DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M|DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M	p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			14	2866	-			849			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2546G>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.494366|9.494366	0.99187|0.99187	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77253|.	0.4103|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.70227|.	0.928;0.968|.	T|.	0.76206|.	-0.3044|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;849|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	M|Y	849;849;192|19	ENSP00000328524:R849M;ENSP00000435866:R849M;ENSP00000432549:R192M|.	ENSP00000328524:R849M|.	R|X	-|-	2|3	0|2	DENND5A|DENND5A	9128863|9128863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.794000|7.794000	0.85869|0.85869	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	AGG|TAG		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		39	194	1	0	3.61848e-18	1	4.01023e-18	39	194					A	9172287	C	A	9172287	3	1	79	1	0	0	0	0	1	0	0	0	4452	681	24	3	1357	3	DENND5A	11	9172287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5665	9172287	125834229	11805	22122											
DENND5A	23258	broad.mit.edu	37	chr11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggattccttatcctggCtgggttggatgacaaacacc	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000328194.3	-	7	1936	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	539	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1615-1617)aGc>aTc		DENN/MADD domain containing 5A							152	133	140					11																	9200460		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9200460C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1616G>T	11.37:g.9200460C>A	ENSP00000328524:p.Ser539Ile					DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I	p.S539I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			7	1936	-			539			dDENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1616G>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687429	0.68157	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.47177	0.85;0.85	5.06	5.06	0.68205	dDENN (3);	0.043766	0.85682	D	0.000000	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	P;P	0.49447	0.91;0.924	P;P	0.60473	0.752;0.875	T	0.58538	-0.7619	10	0.54805	T	0.06	.	18.7769	0.91915	0.0:1.0:0.0:0.0	.	539;539	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	539	ENSP00000328524:S539I;ENSP00000435866:S539I	ENSP00000328524:S539I	S	-	2	0	DENND5A	9157036	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.168000	0.50801	2.498000	0.84270	0.655000	0.94253	AGC		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		109	453	1	0	1.71345e-61	1	2.15751e-61	109	453					A	9200460	C	A	9200460	3	1	79	1	0	0	0	0	1	0	0	0	4452	797	28	3	2315	3	DENND5A	11	9200460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28173	9200460	125806056	11806	22123											
TMEM41B	440026	broad.mit.edu	37	chr11	9335893	9335893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtctctgctgccaggCgccgcgagaccccgcgtccc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000527813.1_Silent_p.A32A|TMEM41B_ENST00000533723.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	32					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCTGCCAGGCGCCGCGAGAC	0.711																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(94-96)gcG>gcA		transmembrane protein 41B							11	11	11					11																	9335893		2189	4265	6454	SO:0001819	synonymous_variant	440026					integral to membrane		g.chr11:9335893C>T	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.96G>A	11.37:g.9335893C>T						TMEM41B_ENST00000527813.1_Silent_p.A32A|TMEM41B_ENST00000533723.1_Silent_p.A32A	p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	1	434	-			32					D3DQU9|E9PP29|Q15055|Q4G0P0	Silent	SNP	ENST00000528080.1	37	c.96G>A	CCDS31424.1																																																																																				0.711	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			6	62	0	0	0	1	0	6	62					T	9335893	C	T	9335893	2	4	79	1	0	0	0	0	0	0	0	1	16217	755	27	1		1	TMEM41B	11	9335893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135433	9335893	125670623	11807	22124											
SWAP70	23075	broad.mit.edu	37	chr11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctgcttaagaagcttacaGaagctatgggaggaggttgg	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	148					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(442-444)Gaa>Aaa		SWAP switching B-cell complex 70kDa subunit							62	61	61					11																	9746232		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9746232G>A	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.442G>A	11.37:g.9746232G>A	ENSP00000315630:p.Glu148Lys					SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	p.E148K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	4	545	+			148					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.442G>A	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702741	0.68501	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	.	0.164685	0.64402	D	0.000018	T	0.18341	0.0440	L	0.54323	1.7	0.58432	D	0.999998	P;P;D	0.58268	0.956;0.546;0.982	P;B;P	0.47603	0.453;0.073;0.551	T	0.01124	-1.1444	10	0.28530	T	0.3	-16.6408	19.4051	0.94644	0.0:0.0:1.0:0.0	.	90;148;90	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	90;148	ENSP00000399056:E90K;ENSP00000315630:E148K	ENSP00000315630:E148K	E	+	1	0	SWAP70	9702808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.823000	0.99369	2.586000	0.87340	0.467000	0.42956	GAA		0.303	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		41	205	0	0	0	1	0	41	205					A	9746232	G	A	9746232	3	1	79	1	0	0	0	0	1	0	0	0	15477	943	33	2	456	2	SWAP70	11	9746232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410339	9746232	125260284	11808	22125											
SWAP70	23075	broad.mit.edu	37	chr11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttataccaacagatcagacaGcagatggaagaacaggttgc	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	399					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(1195-1197)caG>caT		SWAP switching B-cell complex 70kDa subunit							73	69	70					11																	9761736		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9761736G>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1197G>T	11.37:g.9761736G>T	ENSP00000315630:p.Gln399His					SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	p.Q399H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	9	1300	+			399					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.1197G>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494561	0.64186	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.20200	2.09;2.09	5.25	4.28	0.50868	.	0.189996	0.48286	D	0.000184	T	0.15825	0.0381	N	0.24115	0.695	0.51482	D	0.99992	P;P;P	0.50943	0.94;0.612;0.641	P;B;B	0.44732	0.459;0.172;0.259	T	0.01007	-1.1483	10	0.46703	T	0.11	-16.3576	9.916	0.41434	0.074:0.0:0.7874:0.1386	.	341;399;341	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	341;399	ENSP00000399056:Q341H;ENSP00000315630:Q399H	ENSP00000315630:Q399H	Q	+	3	2	SWAP70	9718312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.051000	0.49885	2.445000	0.82738	0.591000	0.81541	CAG		0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		39	162	1	0	4.14481e-20	1	4.63599e-20	39	162					T	9761736	G	T	9761736	3	4	79	1	0	0	0	0	1	0	0	0	15477	962	34	3	1231	3	SWAP70	11	9761736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15504	9761736	125244780	11809	22126											
SBF2	81846	broad.mit.edu	37	chr11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattaccttctgaataggcGgaagtcttctgctttctcga	9	9	4	1	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	866					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAATAGGCGGAAGTCTTCT	0.418																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2596-2598)cCg>cTg		SET binding factor 2		G	LEU/PRO	0,4402		0,0,2201	198	169	179		2597	5.1	1	11	dbSNP_134	179	1,8587	1.2+/-3.3	0,1,4293	no	missense	SBF2	NM_030962.3	98	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	866/1850	9874236	1,12989	2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9874236G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2597C>T	11.37:g.9874236G>A	ENSP00000256190:p.Pro866Leu					RP11-1H15.2_ENST00000533659.1_RNA	p.P866L	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	21	2734	-			866					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2597C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604129	0.87157	0.0	1.16E-4	ENSG00000133812	ENST00000256190	D	0.89552	-2.53	6.03	5.12	0.69794	.	0.046259	0.85682	D	0.000000	D	0.92996	0.7771	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93548	0.6884	10	0.66056	D	0.02	.	15.3416	0.74303	0.0665:0.0:0.9335:0.0	.	866	Q86WG5	MTMRD_HUMAN	L	866	ENSP00000256190:P866L	ENSP00000256190:P866L	P	-	2	0	SBF2	9830812	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	1.569000	0.49696	0.655000	0.94253	CCG		0.418	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		123	511	0	0	0	1	0	123	511					A	9874236	G	A	9874236	3	1	79	1	0	0	0	0	1	0	0	0	13909	1116	39	1	3032	1	SBF2	11	9874236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112500	9874236	125132280	11810	22127											
SBF2	81846	broad.mit.edu	37	chr11	10051375	10051375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaattagactttccaaggaGacattcaggctgtccacata	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(448-450)gtC>gtT		SET binding factor 2							205	205	205					11																	10051375		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10051375G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.450C>T	11.37:g.10051375G>A						SBF2_ENST00000527019.1_5'UTR	p.V150V	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	5	587	-			150			DENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.450C>T	CCDS31427.1																																																																																				0.408	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		240	1075	0	0	0	1	0	240	1075					A	10051375	G	A	10051375	2	1	79	1	0	0	0	0	0	0	0	1	13909	929	33	2		2	SBF2	11	10051375	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177139	10051375	124955141	11811	22128											
SBF2	81846	broad.mit.edu	37	chr11	10064430	10064430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaaggttaggcatgaGcagtaatgtcgatctgagtc	12	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	80	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTAGGCATGAGCAGTAATGTC	0.443																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(238-240)tgC>tgT		SET binding factor 2							146	122	130					11																	10064430		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064430G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.240C>T	11.37:g.10064430G>A						SBF2_ENST00000527019.1_5'UTR	p.C80C	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	377	-			80			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.240C>T	CCDS31427.1																																																																																				0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		65	294	0	0	0	1	0	65	294					A	10064430	G	A	10064430	2	1	79	1	0	0	0	0	0	0	0	1	13909	963	34	2		2	SBF2	11	10064430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13055	10064430	124942086	11812	22129											
ADM	133	broad.mit.edu	37	chr11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagccacaagcacacggggCtccagcccccccgagtggaa	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|RP11-351I24.1_ENST00000526906.1_RNA			P35318	ADML_HUMAN	adrenomedullin	173					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672																																						ENST00000528655.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(517-519)gCt>gTt		adrenomedullin							17	21	19					11																	10328148		2176	4232	6408	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10328148C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.518C>T	11.37:g.10328148C>T	ENSP00000436607:p.Ala173Val					ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V	p.A173V			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	3	1135	+			173					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.518C>T	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197914	0.58126	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.56275	1.06;1.01;0.47;1.06;1.06	5.21	1.66	0.24008	.	0.488207	0.24267	N	0.040036	T	0.27063	0.0663	N	0.08118	0	0.18873	N	0.999985	B	0.09022	0.002	B	0.12156	0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-2.2324	6.4641	0.21971	0.0:0.6484:0.1456:0.206	.	173	P35318	ADML_HUMAN	V	173;126;105;173;173	ENSP00000278175:A173V;ENSP00000431438:A126V;ENSP00000436837:A105V;ENSP00000436607:A173V;ENSP00000435124:A173V	ENSP00000278175:A173V	A	+	2	0	ADM	10284724	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.996000	0.29719	0.644000	0.30656	0.561000	0.74099	GCT		0.672	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		47	206	0	0	0	1	0	47	206					T	10328148	C	T	10328148	3	4	79	1	0	0	0	0	1	0	0	0	321	797	28	2	528	2	ADM	11	10328148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263718	10328148	124678368	11813	22130											
AMPD3	272	broad.mit.edu	37	chr11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgcaccccccaacctgGattacttggtccacatgcag	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000396554.3	+	5	1023	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	219					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCCCAACCTGGATTACTTGGT	0.577																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(178-180)Gat>Aat		adenosine monophosphate deaminase 3							108	90	96					11																	10506432		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10506432G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.682G>A	11.37:g.10506432G>A	ENSP00000379802:p.Asp228Asn					AMPD3_ENST00000396554.3_Missense_Mutation_p.D228N	p.D60N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	4	650	+			219					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.178G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.324654	0.40554	N	0.001072	T	0.60676	0.2287	N	0.01817	-0.705	0.34621	D	0.718609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62501	-0.6841	10	0.08381	T	0.77	-6.4747	15.2918	0.73870	0.0:0.1395:0.8605:0.0	.	226;219;228	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	60;228;219;219;226;219	ENSP00000396000:D60N;ENSP00000379802:D228N;ENSP00000433284:D219N;ENSP00000379801:D219N;ENSP00000436987:D226N;ENSP00000431648:D219N	ENSP00000379801:D219N	D	+	1	0	AMPD3	10463008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.853000	0.55941	2.692000	0.91855	0.561000	0.74099	GAT		0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		83	444	0	0	0	1	0	83	444					A	10506432	G	A	10506432	3	1	79	1	0	0	0	0	1	0	0	0	587	1174	41	2	720	2	AMPD3	11	10506432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178284	10506432	124500084	11814	22131											
LYVE1	10894	broad.mit.edu	37	chr11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgtcactgacaataaattCtgttgtttgtgttgcagttt	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000256178.3	-	4	639	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	LYVE1_ENST00000531706.1_5'UTR|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443																																						ENST00000256178.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(481-483)Gaa>Taa		lymphatic vessel endothelial hyaluronan receptor 1							349	320	330					11																	10582264		2201	4294	6495	SO:0001587	stop_gained	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10582264C>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"extracellular link domain containing 1"	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.481G>T	11.37:g.10582264C>A	ENSP00000256178:p.Glu161*					LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529829.1_RNA	p.E161*	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	4	639	-			161					Q8TC18|Q9UNF4	Nonsense_Mutation	SNP	ENST00000256178.3	37	c.481G>T	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903816	0.72754	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	5.27	4.36	0.52297	.	0.458728	0.25205	N	0.032356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6432	10.1961	0.43056	0.0:0.9076:0.0:0.0924	.	.	.	.	X	161;57	.	ENSP00000256178:E161X	E	-	1	0	LYVE1	10538840	0.272000	0.24172	0.731000	0.30826	0.016000	0.09150	0.920000	0.28705	1.376000	0.46267	0.650000	0.86243	GAA		0.443	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		72	745	1	0	2.69673e-31	1	3.17273e-31	72	745					A	10582264	C	A	10582264	4	1	79	1	0	0	0	0	0	1	0	0	9168	922	32	3	499	3	LYVE1	11	10582264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75832	10582264	124424252	11815	22132											
MRVI1	10335	broad.mit.edu	37	chr11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaccccttgctgtaggCttcttcctccatcctggcct	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000436272.1	-	18	2344	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	756	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTGCTGTAGGCTTCTTCCTCC	0.562																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(2074-2076)Gcc>Acc		murine retrovirus integration site 1 homolog							78	83	81					11																	10603427		2052	4187	6239	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10603427C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2266G>A	11.37:g.10603427C>T	ENSP00000412229:p.Ala756Thr					MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A756T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1-AS1_ENST00000529829.1_RNA	p.A692T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	18	2574	-			756					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.2074G>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011331	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.38887	2.23;2.25;1.66;1.66;1.11;1.11;2.05;1.77;2.23;1.66	5.46	5.46	0.80206	.	0.062155	0.64402	D	0.000006	T	0.64271	0.2583	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.926;0.999;0.999;0.998	T	0.63902	-0.6532	10	0.56958	D	0.05	-11.5738	19.2738	0.94021	0.0:1.0:0.0:0.0	.	577;756;775;774	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	774;757;756;692;692;468;468;783;577;775;692	ENSP00000414598:A774T;ENSP00000412229:A756T;ENSP00000448278:A692T;ENSP00000446764:A692T;ENSP00000441971:A468T;ENSP00000401205:A468T;ENSP00000412130:A783T;ENSP00000437784:A577T;ENSP00000432436:A775T;ENSP00000432067:A692T	ENSP00000307885:A757T	A	-	1	0	MRVI1	10560003	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.505000	0.66981	2.720000	0.93068	0.655000	0.94253	GCC		0.562	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		75	275	0	0	0	1	0	75	275					T	10603427	C	T	10603427	3	4	79	1	0	0	0	0	1	0	0	0	9894	797	28	2	403	2	MRVI1	11	10603427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21163	10603427	124403089	11816	22133											
CTR9	9646	broad.mit.edu	37	chr11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaccccatcatgtcgCggggctccatcgagattccc	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	3					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(7-9)Cgg>Tgg		CTR9, Paf1/RNA polymerase II complex component							44	44	44					11																	10772966		2200	4294	6494	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10772966C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.7C>T	11.37:g.10772966C>T	ENSP00000355013:p.Arg3Trp						p.R3W	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	1	433	+			3					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.7C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108579	0.97291	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.36890	-0.9729	10	0.72032	D	0.01	-13.286	18.1653	0.89723	0.0:1.0:0.0:0.0	.	3	Q6PD62	CTR9_HUMAN	W	3	ENSP00000355013:R3W	ENSP00000355013:R3W	R	+	1	2	CTR9	10729542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.805000	0.96524	0.650000	0.86243	CGG		0.632	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		35	136	0	0	0	1	0	35	136					T	10772966	C	T	10772966	3	4	79	1	0	0	0	0	1	0	0	0	4035	759	27	1	9	1	CTR9	11	10772966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169539	10772966	124233550	11817	22134											
CTR9	9646	broad.mit.edu	37	chr11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagcctatactattgatCctagcaaccctatggtattg	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	266					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(796-798)Cct>Tct		CTR9, Paf1/RNA polymerase II complex component							120	115	117					11																	10783548		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10783548C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.796C>T	11.37:g.10783548C>T	ENSP00000355013:p.Pro266Ser						p.P266S	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	7	1222	+			266					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.796C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838796	0.32513	.	.	ENSG00000198730	ENST00000361367	T	0.54479	0.57	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.05619	-0.005	0.80722	D	1	B	0.24426	0.103	B	0.22753	0.041	T	0.12967	-1.0527	10	0.25106	T	0.35	-13.9099	18.239	0.89960	0.0:1.0:0.0:0.0	.	266	Q6PD62	CTR9_HUMAN	S	266	ENSP00000355013:P266S	ENSP00000355013:P266S	P	+	1	0	CTR9	10740124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.776000	0.68924	2.315000	0.78130	0.460000	0.39030	CCT		0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		45	229	0	0	0	1	0	45	229					T	10783548	C	T	10783548	3	4	79	1	0	0	0	0	1	0	0	0	4035	855	30	2	822	2	CTR9	11	10783548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10582	10783548	124222968	11818	22135											
CTR9	9646	broad.mit.edu	37	chr11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaacaagaatggggtcCtgggcagaagaagtttgaga	15	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	583					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1747-1749)cCt>cAt		CTR9, Paf1/RNA polymerase II complex component							246	249	248					11																	10789414		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789414C>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1748C>A	11.37:g.10789414C>A	ENSP00000355013:p.Pro583His						p.P583H	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	14	2174	+			583					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1748C>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807769	0.70797	.	.	ENSG00000198730	ENST00000361367	T	0.17528	2.27	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.55481	1.735	0.80722	D	1	P	0.45569	0.861	B	0.38500	0.275	T	0.01416	-1.1360	10	0.41790	T	0.15	-11.4677	19.5083	0.95130	0.0:1.0:0.0:0.0	.	583	Q6PD62	CTR9_HUMAN	H	583	ENSP00000355013:P583H	ENSP00000355013:P583H	P	+	2	0	CTR9	10745990	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.735000	0.84939	2.620000	0.88729	0.467000	0.42956	CCT		0.418	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		253	1024	1	0	5.85207e-95	1	7.51948e-95	253	1024					A	10789414	C	A	10789414	3	1	79	1	0	0	0	0	1	0	0	0	4035	681	24	3	1802	3	CTR9	11	10789414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	10789414	124217102	11819	22136											
CTR9	9646	broad.mit.edu	37	chr11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttagatacttcagttattTgagtaaagtgggagataaaa	9	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	796					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2386-2388)tTg>tCg		CTR9, Paf1/RNA polymerase II complex component							156	156	156					11																	10793106		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10793106T>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2387T>C	11.37:g.10793106T>C	ENSP00000355013:p.Leu796Ser						p.L796S	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2813	+			796					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2387T>C	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432723	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.60797	0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84111	0.0401	10	0.87932	D	0	-10.9708	15.8948	0.79326	0.0:0.0:0.0:1.0	.	796	Q6PD62	CTR9_HUMAN	S	796	ENSP00000355013:L796S	ENSP00000355013:L796S	L	+	2	0	CTR9	10749682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.219000	0.72066	0.528000	0.53228	TTG		0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		128	570	0	0	0	1	0	128	570					C	10793106	T	C	10793106	3	2	79	1	0	0	0	0	1	0	0	0	4035	1821	63	4	2461	4	CTR9	11	10793106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3692	10793106	124213410	11820	22137											
EIF4G2	1982	broad.mit.edu	37	chr11	10823295	10823295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggataagagtccctgactCtggttatggtagagctggct	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	EIF4G2_ENST00000396525.2_Intron|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.Q442H(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1324-1326)caG>caA		eukaryotic translation initiation factor 4 gamma, 2							117	112	114					11																	10823295		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823295C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1326G>A	11.37:g.10823295C>T						EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q|EIF4G2_ENST00000396525.2_Intron	p.Q442Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	14	1836	-			442						Silent	SNP	ENST00000526148.1	37	c.1326G>A	CCDS31428.1																																																																																				0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		73	370	0	0	0	1	0	73	370					T	10823295	C	T	10823295	2	4	79	1	0	0	0	0	0	0	0	1	5055	912	32	2		2	EIF4G2	11	10823295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30189	10823295	124183221	11821	22138											
GALNTL4	374378	broad.mit.edu	37	chr11	11362395	11362395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgttccatgccatgtagaCgtggcttttaaattcatcca	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11362395C>T	ENST00000227756.4	-	7	1660	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	417					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCCATGTAGACGTGGCTTTTA	0.532																																						ENST00000227756.4																			0											c.(1249-1251)Gtc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							234	237	236					11																	11362395		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11362395C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1249G>A	11.37:g.11362395C>T	ENSP00000227756:p.Val417Ile						p.V417I	NM_198516.2	NP_940918.2					7	1660	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1249G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345939	0.95807	.	.	ENSG00000110328	ENST00000227756	T	0.40476	1.03	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.58921	0.2156	L	0.56396	1.775	0.58432	D	0.999999	D	0.69078	0.997	D	0.68621	0.959	T	0.48445	-0.9035	10	0.14252	T	0.57	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	417	Q6P9A2	GLTL4_HUMAN	I	417	ENSP00000227756:V417I	ENSP00000227756:V417I	V	-	1	0	GALNTL4	11318971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.716000	0.92895	0.561000	0.74099	GTC		0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		250	1092	0	0	0	1	0	250	1092					T	11362395	C	T	11362395	3	4	79	1	0	0	0	0	1	0	0	0	6251	536	19	1	594	1	GALNTL4	11	11362395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539100	11362395	123644121	11822	22139											
DKK3	27122	broad.mit.edu	37	chr11	11986231	11986231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacatacaccaggctgTggctggggagagatgggaca	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11986231T>G	ENST00000396505.2	-	8	1071	c.833A>C	c.(832-834)cAc>cCc	p.H278P	DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P|DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	278	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CACCAGGCTGTGGCTGGGGAG	0.617																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(832-834)cAc>cCc		dickkopf WNT signaling pathway inhibitor 3							35	38	37					11																	11986231		2201	4294	6495	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11986231T>G	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.833A>C	11.37:g.11986231T>G	ENSP00000379762:p.His278Pro					DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P	p.H278P	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	8	1071	-			278			DKK-type Cys-2.		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.833A>C	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102267	0.76983	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914	T;T;T;T	0.33865	2.1;2.1;2.12;1.39	5.53	5.53	0.82687	.	0.105186	0.64402	D	0.000003	T	0.44705	0.1306	L	0.55481	1.735	0.48288	D	0.999628	D;P;P	0.53151	0.958;0.93;0.93	P;B;B	0.51229	0.663;0.36;0.36	T	0.40979	-0.9534	10	0.54805	T	0.06	-15.4297	13.0648	0.59028	0.0:0.0:0.0:1.0	.	292;250;278	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	P	278;278;221;292;250;122	ENSP00000379762:H278P;ENSP00000314910:H278P;ENSP00000433112:H292P;ENSP00000398365:H250P	ENSP00000314730:H122P	H	-	2	0	DKK3	11942807	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.468000	0.60162	2.107000	0.64212	0.533000	0.62120	CAC		0.617	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		7	172	0	0	0	1	0	7	172					G	11986231	T	G	11986231	3	3	79	1	0	0	0	0	1	0	0	0	4562	1696	59	4	223	4	DKK3	11	11986231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	623836	11986231	123020285	11823	22140											
MICAL2	9645	broad.mit.edu	37	chr11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcgcagtgggttggccCtgtgtgccatcatccaccgc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	551	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGTTGGCCCTGTGTGCCAT	0.647																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1651-1653)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 2							101	84	90					11																	12246330		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12246330C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1651C>A	11.37:g.12246330C>A	ENSP00000256194:p.Leu551Met					MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M	p.L551M	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	13	1939	+			551			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1651C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749488	0.69533	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.01	4.02	0.46733	Calponin homology domain (5);	0.000000	0.64402	D	0.000005	D	0.98485	0.9495	M	0.89353	3.025	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	7.4697	0.27342	0.0:0.7662:0.0:0.2338	.	551;551;551;551;551	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	M	551;84;551;551;551;551	ENSP00000441689:L551M;ENSP00000256194:L551M;ENSP00000433965:L551M;ENSP00000344894:L551M;ENSP00000368932:L551M	ENSP00000256194:L551M	L	+	1	2	MICAL2	12202906	0.581000	0.26741	1.000000	0.80357	0.975000	0.68041	1.248000	0.32827	2.606000	0.88127	0.655000	0.94253	CTG		0.647	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		14	304	1	0	3.27435e-08	1	3.41456e-08	14	304					A	12246330	C	A	12246330	3	1	79	1	0	0	0	0	1	0	0	0	9611	680	24	3	1693	3	MICAL2	11	12246330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260099	12246330	122760186	11824	22141											
MICAL2	9645	broad.mit.edu	37	chr11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaacattaaggagaaggCggctcaccttgcctccatgt	10	10	1	2	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	872					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2614-2616)gCg>gTg		microtubule associated monooxygenase, calponin and LIM domain containing 2		C	VAL/ALA	0,4402		0,0,2201	117	117	117		2615	6.1	1	11	dbSNP_134	117	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign	872/1125	12264276	1,12989	2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12264276C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2615C>T	11.37:g.12264276C>T	ENSP00000256194:p.Ala872Val					MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V	p.A872V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	20	2903	+			872					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2615C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165018	0.94727	0.0	1.16E-4	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.68903	-0.33;-0.36	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.75664	0.3880	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.75147	-0.3420	10	0.52906	T	0.07	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	872;872	G3XAC8;O94851	.;MICA2_HUMAN	V	872	ENSP00000256194:A872V;ENSP00000344894:A872V	ENSP00000256194:A872V	A	+	2	0	MICAL2	12220852	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.311000	0.65786	2.884000	0.98904	0.655000	0.94253	GCG		0.517	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		40	422	0	0	0	1	0	40	422					T	12264276	C	T	12264276	3	4	79	1	0	0	0	0	1	0	0	0	9611	768	27	1	2685	1	MICAL2	11	12264276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17946	12264276	122742240	11825	22142											
MICALCL	84953	broad.mit.edu	37	chr11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctcagagcacaggtaacaGaggcttcctcttctgcctct	8	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	488					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACAGGTAACAGAGGCTTCCTC	0.458																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1462-1464)Gag>Aag		MICAL C-terminal like							114	115	115					11																	12341278		1926	4130	6056	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12341278G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1462G>A	11.37:g.12341278G>A	ENSP00000256186:p.Glu488Lys						p.E488K	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	4	1753	+			488					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.1462G>A	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659779	0.29515	.	.	ENSG00000133808	ENST00000256186	T	0.09911	2.93	5.55	4.58	0.56647	.	0.348813	0.20333	N	0.094386	T	0.07863	0.0197	L	0.38175	1.15	0.21740	N	0.999568	P	0.43094	0.799	B	0.33339	0.162	T	0.34675	-0.9819	10	0.22109	T	0.4	.	13.2894	0.60262	0.0:0.1588:0.8412:0.0	.	488	Q6ZW33	MICLK_HUMAN	K	488	ENSP00000256186:E488K	ENSP00000256186:E488K	E	+	1	0	MICALCL	12297854	0.616000	0.27035	0.339000	0.25562	0.465000	0.32709	3.063000	0.49978	2.753000	0.94483	0.655000	0.94253	GAG		0.458	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		101	443	0	0	0	1	0	101	443					A	12341278	G	A	12341278	3	1	79	1	0	0	0	0	1	0	0	0	9613	943	33	2	1472	2	MICALCL	11	12341278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77002	12341278	122665238	11826	22143											
MICALCL	84953	broad.mit.edu	37	chr11	12371470	12371470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattaatgcgatatgagtcGgagctcctaatcatgtaagt	9	6	1	1	rs189290736	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12371470G>A	ENST00000256186.2	+	7	2106	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.S605S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GATATGAGTCGGAGCTCCTAA	0.473													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.0					ENST00000256186.2																			1	Substitution - coding silent(1)	p.S605S(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1813-1815)tcG>tcA		MICAL C-terminal like		G		17,3849		0,17,1916	94	89	91		1815	-2.8	1	11		91	0,8254		0,0,4127	no	coding-synonymous	MICALCL	NM_032867.2		0,17,6043	AA,AG,GG		0.0,0.4397,0.1403		605/696	12371470	17,12103	1933	4127	6060	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12371470G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1815G>A	11.37:g.12371470G>A							p.S605S	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	7	2106	+			605					Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1815G>A	CCDS41620.1																																																																																				0.473	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		7	318	0	0	0	1	0	7	318					A	12371470	G	A	12371470	2	1	79	1	0	0	0	0	0	0	0	1	9613	1103	39	1		1	MICALCL	11	12371470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30192	12371470	122635046	11827	22144											
ARNTL	406	broad.mit.edu	37	chr11	13378325	13378325	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatgaccctcatggaagGtaccatgaacctagtaattt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000403290.1	+	6	534		c.e6+1		ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.e6+1		aryl hydrocarbon receptor nuclear translocator-like							141	120	127					11																	13378325		2200	4294	6494	SO:0001630	splice_region_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13378325G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.179+1G>A	11.37:g.13378325G>A						ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site				O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	6	534	+								A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	ENST00000403290.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.010702	0.75046	.	.	ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.		0.398	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	Intron	56	230	0	0	0	1	0	56	230					A	13378325	G	A	13378325	5	1	79	1	0	0	0	0	0	0	1	0	968	1275	44	2	201	2	ARNTL	11	13378325	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006855	13378325	121628191	11828	22145											
BTBD10	84280	broad.mit.edu	37	chr11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacactcaccagaatcgctcGaaacacagtggaaccaattc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000278174.5	-	5	921	c.676C>T	c.(676-678)Cga>Tga	p.R226*	BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	226	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(676-678)Cga>Tga		BTB (POZ) domain containing 10							235	208	217					11																	13438716		2200	4294	6494	SO:0001587	stop_gained	84280					nucleus		g.chr11:13438716G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.676C>T	11.37:g.13438716G>A	ENSP00000278174:p.Arg226*					BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*	p.R226*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	5	921	-			226			BTB.		B7Z228|Q86WG1	Nonsense_Mutation	SNP	ENST00000278174.5	37	c.676C>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961995	0.98583	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.662	19.8331	0.96643	0.0:0.0:1.0:0.0	.	.	.	.	X	226;234;178	.	ENSP00000278174:R226X	R	-	1	2	BTBD10	13395292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.779000	0.95612	0.650000	0.86243	CGA		0.418	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		131	554	0	0	0	1	0	131	554					A	13438716	G	A	13438716	4	1	79	1	0	0	0	0	0	1	0	0	1542	1066	37	1	771	1	BTBD10	11	13438716	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60391	13438716	121567800	11829	22146											
FAR1	84188	broad.mit.edu	37	chr11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaagtaattcttgggtttgGaatactgagaatgtcaatat	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000354817.3	+	10	1347	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	FAR1_ENST00000532502.1_Missense_Mutation_p.W25C	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	401					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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303																																						ENST00000532502.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(73-75)tgG>tgT		fatty acyl CoA reductase 1							80	79	79					11																	13743352		2197	4291	6488	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13743352G>T	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.1203G>T	11.37:g.13743352G>T	ENSP00000346874:p.Trp401Cys					FAR1_ENST00000354817.3_Missense_Mutation_p.W401C	p.W25C			Q8WVX9	FACR1_HUMAN			1	1903	+			401					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.75G>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422520	0.83559	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.21932	1.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.87932	D	0	-3.4024	19.5966	0.95541	0.0:0.0:1.0:0.0	.	401	Q8WVX9	FACR1_HUMAN	C	401;25	ENSP00000346874:W401C	ENSP00000346874:W401C	W	+	3	0	FAR1	13699928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	TGG		0.303	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		33	115	1	0	6.00712e-18	1	6.65163e-18	33	115					T	13743352	G	T	13743352	3	4	79	1	0	0	0	0	1	0	0	0	5699	1183	41	3	1237	3	FAR1	11	13743352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304636	13743352	121263164	11830	22147											
SPON1	10418	broad.mit.edu	37	chr11	14284446	14284446	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccatccatccaaaagCtacgctggagggaggcccga	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14284446C>T	ENST00000534587.1	-	0	185				SPON1_ENST00000310358.7_RNA																							CATCCAAAAGCTACGCTGGAG	0.577																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							50	51	51					11																	14284446		1921	4119	6040			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284446C>T																													11.37:g.14284446C>T						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2720	+									RNA	SNP	ENST00000534587.1	37																																																																																						0.577	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			6	150	0	0	0	1	0	6	150					T	14284446	C	T	14284446	1	4	79	0	1	0	0	0	0	0	0	0	15134	796	28	2		2	SPON1	11	14284446	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541094	14284446	120722070	11831	22148											
COPB1	1315	broad.mit.edu	37	chr11	14501262	14501263	+	Splice_Site	INS	-	-	A													actgagaaattccattaactINSaaaagaaaaaaaaaaaaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14501262_14501263insA	ENST00000249923.3	-	11	1513		c.e11-2		COPB1_ENST00000439561.2_Splice_Site|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCCATTAACTAAAAGAAAAAA	0.307																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.e11-2		coatomer protein complex, subunit beta 1																																				SO:0001630	splice_region_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14501262_14501263insA	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1213-2->T	11.37:g.14501266_14501266dupA						COPB1_ENST00000439561.2_Splice_Site		NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			11	1513	-								D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Splice_Site	INS	ENST00000249923.3	37		CCDS7815.1																																																																																				0.307	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	Intron	10	140						10	140	---	---	---	---	A	14501263	-	A	14501262	8	5	79	1	0	1	1	0	0	0	1	0	3737	1536	53	0	1698	0	COPB1	11	14501262	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	216816	14501262	120505254	11832	22149											
COPB1	1315	broad.mit.edu	37	chr11	14502316	14502316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacataccacaggaataaCatttgcagccatatctggaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14502316C>T	ENST00000249923.3	-	10	1501	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.V401I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	401					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACAGGAATAACATTTGCAGCC	0.323																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1201-1203)Gtt>Att		coatomer protein complex, subunit beta 1							125	115	119					11																	14502316		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14502316C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1201G>A	11.37:g.14502316C>T	ENSP00000249923:p.Val401Ile					COPB1_ENST00000439561.2_Missense_Mutation_p.V401I	p.V401I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			10	1501	-			401					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1201G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265476	0.59431	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27402	1.67;1.67;1.67	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.33137	0.985	0.80722	D	1	B	0.24368	0.102	B	0.37508	0.252	T	0.12837	-1.0532	10	0.39692	T	0.17	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	401	P53618	COPB_HUMAN	I	401	ENSP00000249923:V401I;ENSP00000397873:V401I;ENSP00000436383:V401I	ENSP00000249923:V401I	V	-	1	0	COPB1	14458892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.086000	0.71352	2.426000	0.82243	0.655000	0.94253	GTT		0.323	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		18	504	0	0	0	1	0	18	504					T	14502316	C	T	14502316	3	4	79	1	0	0	0	0	1	0	0	0	3737	478	17	2	1712	2	COPB1	11	14502316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1054	14502316	120504200	11833	22150											
COPB1	1315	broad.mit.edu	37	chr11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacttacctgtagtactcGttcatgagcaggatgctctt	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	316					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTAGTACTCGTTCATGAGCA	0.333																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(946-948)Cga>Tga		coatomer protein complex, subunit beta 1							80	76	77					11																	14504589		2199	4294	6493	SO:0001587	stop_gained	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14504589G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.946C>T	11.37:g.14504589G>A	ENSP00000249923:p.Arg316*					COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			8	1246	-			316					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	37	c.946C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098576	0.98063	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.56	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3051	0.66380	0.0:0.0:0.5008:0.4992	.	.	.	.	X	316	.	ENSP00000249923:R316X	R	-	1	2	COPB1	14461165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.868000	0.56055	0.649000	0.30751	0.591000	0.81541	CGA		0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		31	168	0	0	0	1	0	31	168					A	14504589	G	A	14504589	4	1	79	1	0	0	0	0	0	1	0	0	3737	1153	40	1	1975	1	COPB1	11	14504589	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2273	14504589	120501927	11834	22151											
COPB1	1315	broad.mit.edu	37	chr11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcagaatgtctccaAatgtttgaacttgatcaatg	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	219					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATGTCTCCAAATGTTTGAAC	0.313																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(655-657)tTt>tCt		coatomer protein complex, subunit beta 1							67	66	67					11																	14510081		2200	4285	6485	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14510081A>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.656T>C	11.37:g.14510081A>G	ENSP00000249923:p.Phe219Ser					COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			6	956	-			219					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.656T>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532635	0.85812	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24350	1.86;1.86;1.86	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60198	-0.7310	10	0.38643	T	0.18	.	14.817	0.70041	1.0:0.0:0.0:0.0	.	219	P53618	COPB_HUMAN	S	219	ENSP00000249923:F219S;ENSP00000397873:F219S;ENSP00000436383:F219S	ENSP00000249923:F219S	F	-	2	0	COPB1	14466657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.956000	0.56807	0.533000	0.62120	TTT		0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		25	135	0	0	0	1	0	25	135					G	14510081	A	G	14510081	3	3	79	1	0	0	0	0	1	0	0	0	3737	14	1	4	2273	4	COPB1	11	14510081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5492	14510081	120496435	11835	22152											
PSMA1	5682	broad.mit.edu	37	chr11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaatgtgagggcccaTatcctacaaatagaaataaa	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000396394.2	-	7	814	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000530457.1_Missense_Mutation_p.M115V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	140					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(343-345)Atg>Gtg		proteasome (prosome, macropain) subunit, alpha type, 1							62	65	64					11																	14535242		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14535242T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"Proteasome (prosome, macropain) subunits"	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.418A>G	11.37:g.14535242T>C	ENSP00000379676:p.Met140Val					PSMA1_ENST00000396394.2_Missense_Mutation_p.M140V|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V	p.M115V			P25786	PSA1_HUMAN			7	873	-			140					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.343A>G	CCDS7816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.444090|4.444090	0.83993|0.83993	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|T;T;T;T	0.46063|0.20881	0.88|2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.17474|0.17474	0.49|0.49	0.31237|0.31237	N|N	0.695602|0.695602	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.06844|0.06844	-1.0804|-1.0804	7|10	0.51188|0.27082	T|T	0.08|0.32	-11.1186|-11.1186	16.4696|16.4696	0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146;140	.|P25786-2;P25786	.|.;PSA1_HUMAN	M|V	120|140;140;115;146	ENSP00000392242:I120M|ENSP00000379676:M140V;ENSP00000379675:M140V;ENSP00000441166:M115V;ENSP00000414359:M146V	ENSP00000392242:I120M|ENSP00000379675:M140V	I|M	-|-	3|1	3|0	PSMA1|PSMA1	14491818|14491818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.239000|7.239000	0.78182|0.78182	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	ATA|ATG		0.328	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		72	280	0	0	0	1	0	72	280					C	14535242	T	C	14535242	3	2	79	1	0	0	0	0	1	0	0	0	12713	1406	49	4	389	4	PSMA1	11	14535242	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25161	14535242	120471274	11836	22153											
PDE3B	5140	broad.mit.edu	37	chr11	14880590	14880590	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctatatttctttttaggCagttttatacaatgacagat	5	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	841	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCTTTTTAGGCAGTTTTATAC	0.333																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e13-1		phosphodiesterase 3B, cGMP-inhibited							91	89	90					11																	14880590		2200	4294	6494	SO:0001630	splice_region_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14880590C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2521-1C>T	11.37:g.14880590C>T						PDE3B_ENST00000455098.2_Splice_Site_p.A790_splice	p.A841_splice	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			13	2875	+			841			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Splice_Site	SNP	ENST00000282096.4	37	c.2520_splice	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258912	0.95368	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.84944	-1.92;-1.92	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96590	0.9437	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	790;841	B7ZM37;Q13370	.;PDE3B_HUMAN	V	841;790	ENSP00000282096:A841V;ENSP00000388644:A790V	ENSP00000282096:A841V	A	+	2	0	PDE3B	14837166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GCA		0.333	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	Missense_Mutation	67	322	0	0	0	1	0	67	322					T	14880590	C	T	14880590	5	4	79	1	0	0	0	0	0	0	1	0	11680	724	25	2	2572	2	PDE3B	11	14880590	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345348	14880590	120125926	11837	22154											
CYP2R1	120227	broad.mit.edu	37	chr11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctccaaaaatgatcagaTtggttatgtttgaaacagca	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000334636.5	-	3	621	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	192					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(574-576)aAt>aCt		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						105	97	100					11																	14902107		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14902107T>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.575A>C	11.37:g.14902107T>G	ENSP00000334592:p.Asn192Thr					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.N192T	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	621	-			192					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.575A>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008957	0.75046	.	.	ENSG00000186104	ENST00000334636	T	0.67345	-0.26	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	L	0.55213	1.73	0.80722	D	1	D;P	0.76494	0.999;0.736	D;P	0.85130	0.997;0.649	T	0.80915	-0.1169	10	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	77;192	E9PS56;Q6VVX0	.;CP2R1_HUMAN	T	192	ENSP00000334592:N192T	ENSP00000334592:N192T	N	-	2	0	CYP2R1	14858683	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	5.167000	0.64972	2.248000	0.74166	0.459000	0.35465	AAT		0.343	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		52	247	0	0	0	1	0	52	247					G	14902107	T	G	14902107	3	3	79	1	0	0	0	0	1	0	0	0	4184	1493	52	4	942	4	CYP2R1	11	14902107	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21517	14902107	120104409	11838	22155											
CALCB	797	broad.mit.edu	37	chr11	15096342	15096342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcagcctccaggcggcGccattcaggtgagacagcct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000533448.1	+	2	189	c.78G>A	c.(76-78)gcG>gcA	p.A26A	CALCB_ENST00000324229.6_Silent_p.A26A|CALCB_ENST00000523376.1_Silent_p.A37A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	26					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523376.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(109-111)gcG>gcA		calcitonin-related polypeptide beta							50	51	51					11																	15096342		2200	4294	6494	SO:0001819	synonymous_variant	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096342G>A		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.78G>A	11.37:g.15096342G>A			OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_ENST00000533448.1_Silent_p.A26A|CALCB_ENST00000324229.6_Silent_p.A26A	p.A37A			P10092	CALCB_HUMAN			7	1373	+			26					A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP	ENST00000533448.1	37	c.111G>A	CCDS7820.1																																																																																				0.622	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		49	232	0	0	0	1	0	49	232					A	15096342	G	A	15096342	2	1	79	1	0	0	0	0	0	0	0	1	2583	1074	38	1		1	CALCB	11	15096342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194235	15096342	119910174	11839	22156											
INSC	387755	broad.mit.edu	37	chr11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T													tggcaatggagaggcggccaGcgaaggtccaggtggctggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGCGGCCAGCGAAGGTCCA	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(34-36)aGc>aTc		inscuteable homolog (Drosophila)							48	64	59					11																	15134050		1987	4147	6134	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15134050G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.35G>T	11.37:g.15134050G>T	ENSP00000368872:p.Ser12Ile						p.S12I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			1	81	+			12					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.35G>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461602	0.12342	.	.	ENSG00000188487	ENST00000379554	T	0.34275	1.37	3.54	3.54	0.40534	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.40179	D	0.977264	B	0.23735	0.09	B	0.34242	0.178	T	0.19451	-1.0305	9	0.72032	D	0.01	-2.209	10.9193	0.47154	0.0:0.0:1.0:0.0	.	12	Q1MX18	INSC_HUMAN	I	12	ENSP00000368872:S12I	ENSP00000368872:S12I	S	+	2	0	INSC	15090626	0.005000	0.15991	0.241000	0.24154	0.030000	0.12068	1.569000	0.36428	2.274000	0.75844	0.561000	0.74099	AGC		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		35	212	1	0	6.70999e-13	1	7.22283e-13	35	212					T	15134050	G	T	15134050	3	4	79	1	0	0	0	0	1	0	0	0	7794	971	34	3	37	3	INSC	11	15134050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37708	15134050	119872466	11840	22157	138	2									
INSC	387755	broad.mit.edu	37	chr11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A													gcaatggagaggcggccagcGaaggtccaggtggctggggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(37-39)Gaa>Aaa		inscuteable homolog (Drosophila)							51	67	62					11																	15134052		2000	4145	6145	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15134052G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.37G>A	11.37:g.15134052G>A	ENSP00000368872:p.Glu13Lys						p.E13K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			1	83	+			13					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.37G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.086815	0.01873	.	.	ENSG00000188487	ENST00000379554	T	0.35421	1.31	3.54	-3.24	0.05094	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.30078	T	0.28	0.161	5.1726	0.15118	0.4866:0.1524:0.361:0.0	.	13	Q1MX18	INSC_HUMAN	K	13	ENSP00000368872:E13K	ENSP00000368872:E13K	E	+	1	0	INSC	15090628	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.209000	0.09358	-0.708000	0.05015	-1.975000	0.00460	GAA		0.602	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		35	209	0	0	0	1	0	35	209					A	15134052	G	A	15134052	3	1	79	1	0	0	0	0	1	0	0	0	7794	1059	37	1	39	1	INSC	11	15134052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	15134052	119872464	11841	22158	138	2									
INSC	387755	broad.mit.edu	37	chr11	15212360	15212360	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgccgcatcatagccaaGgtgagcttcatggttaggga	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834G>T	c.(832-834)aaG>aaT	p.K278N	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000424273.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	278					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e6+1		inscuteable homolog (Drosophila)							79	82	81					11																	15212360		1938	4147	6085	SO:0001630	splice_region_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15212360G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.834+1G>T	11.37:g.15212360G>T						INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Splice_Site_p.K231_splice|INSC_ENST00000530161.1_Splice_Site_p.K231_splice|INSC_ENST00000528567.1_Splice_Site_p.K231_splice|INSC_ENST00000379556.3_Splice_Site_p.K231_splice|INSC_ENST00000525218.1_Splice_Site_p.K231_splice	p.K278_splice	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			6	880	+			278					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Splice_Site	SNP	ENST00000379554.3	37	c.834_splice	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324135	0.60634	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50813	0.75;0.75;0.73;0.75;0.75;0.73	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.091772	0.85682	D	0.000000	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.57571	0.947;0.98;0.944;0.796	P;P;P;B	0.51101	0.659;0.646;0.646;0.281	T	0.57814	-0.7746	10	0.72032	D	0.01	-35.2374	12.7863	0.57507	0.0767:0.0:0.9233:0.0	.	266;231;231;278	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	278;231;231;266;231;231;231	ENSP00000368872:K278N;ENSP00000368874:K231N;ENSP00000389161:K231N;ENSP00000435022:K231N;ENSP00000436194:K231N;ENSP00000436113:K231N	ENSP00000368872:K278N	K	+	3	2	INSC	15168936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.302000	0.72788	1.573000	0.49748	0.650000	0.86243	AAG		0.537	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	Missense_Mutation	107	422	1	0	1.41219e-46	1	1.73556e-46	107	422					T	15212360	G	T	15212360	5	4	79	1	0	0	0	0	0	0	1	0	7794	1014	35	3	856	3	INSC	11	15212360	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78308	15212360	119794156	11842	22159											
INSC	387755	broad.mit.edu	37	chr11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A													agctgcagtgaccctggctcGtctcagccgagacccagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260573G>A	ENST00000379554.3	+	11	1533	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000424273.1_Missense_Mutation_p.R407H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1486-1488)cGt>cAt		inscuteable homolog (Drosophila)							51	53	52					11																	15260573		2086	4206	6292	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260573G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>A	11.37:g.15260573G>A	ENSP00000368872:p.Arg496His					INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H	p.R496H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1533	+			496					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1487G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357252	0.95854	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	496;449;407;449;449;407	ENSP00000368872:R496H;ENSP00000368874:R449H;ENSP00000389161:R407H;ENSP00000435022:R449H;ENSP00000436194:R449H;ENSP00000436113:R407H	ENSP00000368872:R496H	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	226	0	0	0	1	0	7	226					A	15260573	G	A	15260573	3	1	79	1	0	0	0	0	1	0	0	0	7794	1145	40	1	1529	1	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48213	15260573	119745943	11843	22160	139	2									
INSC	387755	broad.mit.edu	37	chr11	15260581	15260581	+	Nonsense_Mutation	SNP	C	C	T													tgaccctggctcgtctcagcCgagacccagatgtggcacgg					rs371748746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260581C>T	ENST00000379554.3	+	11	1541	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000424273.1_Nonsense_Mutation_p.R410*|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|INSC_ENST00000525218.1_Nonsense_Mutation_p.R410*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	499					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGTCTCAGCCGAGACCCAGA	0.622																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1495-1497)Cga>Tga		inscuteable homolog (Drosophila)		C	stop/ARG,stop/ARG	0,4170		0,0,2085	49	51	50		1495,1354	3.7	1	11		50	1,8403		0,1,4201	no	stop-gained,stop-gained	INSC	NM_001031853.3,NM_001042536.1	,	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	,	499/580,452/533	15260581	1,12573	2085	4202	6287	SO:0001587	stop_gained	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260581C>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1495C>T	11.37:g.15260581C>T	ENSP00000368872:p.Arg499*					INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Nonsense_Mutation_p.R410*|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|INSC_ENST00000525218.1_Nonsense_Mutation_p.R410*	p.R499*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1541	+			499					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Nonsense_Mutation	SNP	ENST00000379554.3	37	c.1495C>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	39	7.386667	0.98252	0.0	1.19E-4	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	.	.	.	5.66	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.805	14.5598	0.68128	0.2676:0.7324:0.0:0.0	.	.	.	.	X	499;452;410;452;452;410	.	ENSP00000368872:R499X	R	+	1	2	INSC	15217157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.252000	0.32874	0.684000	0.31448	0.655000	0.94253	CGA		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	229	0	0	0	1	0	7	229					T	15260581	C	T	15260581	4	4	79	1	0	0	0	0	0	1	0	0	7794	644	23	1	1537	1	INSC	11	15260581	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	15260581	119745935	11844	22161	139	2									
SOX6	55553	broad.mit.edu	37	chr11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgctcttcataatAaggttgcttctcctggttgg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	670					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2008-2010)Tat>Cat		SRY (sex determining region Y)-box 6							151	149	150					11																	16007925		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007925A>G	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2008T>C	11.37:g.16007925A>G	ENSP00000339876:p.Tyr670His					SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H	p.Y670H			P35712	SOX6_HUMAN			15	2085	-			670					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2008T>C		.	.	.	.	.	.	.	.	.	.	A	21.8	4.203537	0.79127	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.116551	0.64402	D	0.000011	D	0.99573	0.9846	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.975;0.996;0.994	D	0.97910	1.0308	10	0.87932	D	0	.	15.3873	0.74711	1.0:0.0:0.0:0.0	.	650;670;646	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	650;670;650;643;646;670	ENSP00000324948:Y650H;ENSP00000339876:Y670H;ENSP00000379644:Y650H;ENSP00000432134:Y643H;ENSP00000434455:Y646H;ENSP00000433233:Y670H	ENSP00000324948:Y650H	Y	-	1	0	SOX6	15964501	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	TAT		0.438	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		102	453	0	0	0	1	0	102	453					G	16007925	A	G	16007925	3	3	79	1	0	0	0	0	1	0	0	0	15005	362	13	4	486	4	SOX6	11	16007925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	747344	16007925	118998591	11845	22162											
SOX6	55553	broad.mit.edu	37	chr11	16077436	16077436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgctggccagctgagcGgcatagagctgctgcaaaac	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1111-1113)gcC>gcT		SRY (sex determining region Y)-box 6							98	86	90					11																	16077436		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16077436G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1113C>T	11.37:g.16077436G>A						SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A	p.A371A			P35712	SOX6_HUMAN			10	1190	-			371					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1113C>T																																																																																					0.448	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		51	231	0	0	0	1	0	51	231					A	16077436	G	A	16077436	2	1	79	1	0	0	0	0	0	0	0	1	15005	1103	39	1		1	SOX6	11	16077436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69511	16077436	118929080	11846	22163											
C11orf58	10944	broad.mit.edu	37	chr11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctagcaattgggaggcaGcagacttgggtaatgaagag	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348																																						ENST00000228136.4																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						c.(88-90)Gca>Aca		chromosome 11 open reading frame 58							91	86	88					11																	16766172		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16766172G>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"small acidic protein"					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.88G>A	11.37:g.16766172G>A	ENSP00000228136:p.Ala30Thr					C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR	p.A30T			O00193	SMAP_HUMAN			2	466	+			30					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.88G>A	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912490	0.92178	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	.	0.052795	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.80910	-0.1171	9	0.72032	D	0.01	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	30	O00193	SMAP_HUMAN	T	30	.	ENSP00000228136:A30T	A	+	1	0	C11orf58	16722748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.685000	0.91497	0.585000	0.79938	GCA		0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		70	250	0	0	0	1	0	70	250					A	16766172	G	A	16766172	3	1	79	1	0	0	0	0	1	0	0	0	1656	971	34	2	94	2	C11orf58	11	16766172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688736	16766172	118240344	11847	22164											
PLEKHA7	144100	broad.mit.edu	37	chr11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactcacagggaaggtcgCcttgctgctttcggcattga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000355661.3	-	22	3155	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1049					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGGTCGCCTTGCTGCTT	0.612																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(3145-3147)Gcg>Acg		pleckstrin homology domain containing, family A member 7							141	106	118					11																	16811333		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16811333C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3145G>A	11.37:g.16811333C>T	ENSP00000347883:p.Ala1049Thr					PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T	p.A1049T			Q6IQ23	PKHA7_HUMAN			22	3155	-			1049					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.3145G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036085	0.19590	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.29;3.3;3.3	5.69	-0.19	0.13256	.	1.321840	0.04514	N	0.383466	T	0.03305	0.0096	N	0.08118	0	0.28840	N	0.896653	B;B;B;B;B	0.23990	0.02;0.023;0.057;0.095;0.008	B;B;B;B;B	0.18871	0.018;0.01;0.01;0.023;0.022	T	0.40701	-0.9549	10	0.05525	T	0.97	-0.3836	9.7991	0.40753	0.0:0.5945:0.0:0.4055	.	624;1049;1049;1050;166	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	T	1049;1049;1050	ENSP00000435389:A1049T;ENSP00000347883:A1049T;ENSP00000416895:A1050T	ENSP00000347883:A1049T	A	-	1	0	PLEKHA7	16767909	0.980000	0.34600	0.775000	0.31657	0.897000	0.52465	0.091000	0.15046	-0.200000	0.10300	0.655000	0.94253	GCG		0.612	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		28	134	0	0	0	1	0	28	134					T	16811333	C	T	16811333	3	4	79	1	0	0	0	0	1	0	0	0	12103	739	26	2	228	2	PLEKHA7	11	16811333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45161	16811333	118195183	11848	22165											
PLEKHA7	144100	broad.mit.edu	37	chr11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgctggggctggtctcGgtactgctccatctgtctgt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2209-2211)Cga>Tga		pleckstrin homology domain containing, family A member 7							114	104	107					11																	16823313		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16823313G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2209C>T	11.37:g.16823313G>A	ENSP00000347883:p.Arg737*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*	p.R737*			Q6IQ23	PKHA7_HUMAN			16	2219	-			737					B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.2209C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		64	267	0	0	0	1	0	64	267					A	16823313	G	A	16823313	4	1	79	1	0	0	0	0	0	1	0	0	12103	1124	39	1	1188	1	PLEKHA7	11	16823313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11980	16823313	118183203	11849	22166											
PLEKHA7	144100	broad.mit.edu	37	chr11	16847918	16847918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcggctggcgagtaCggagacctggccttgctccg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16847918C>T	ENST00000355661.3	-	10	1102	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	364					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGGCGAGTACGGAGACCTGG	0.607																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1090-1092)ccG>ccA		pleckstrin homology domain containing, family A member 7							66	58	61					11																	16847918		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16847918C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1092G>A	11.37:g.16847918C>T						PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P	p.P364P			Q6IQ23	PKHA7_HUMAN			10	1102	-			364					B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.1092G>A	CCDS31434.1																																																																																				0.607	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		11	404	0	0	0	1	0	11	404					T	16847918	C	T	16847918	2	4	79	1	0	0	0	0	0	0	0	1	12103	523	19	1		1	PLEKHA7	11	16847918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24605	16847918	118158598	11850	22167											
PLEKHA7	144100	broad.mit.edu	37	chr11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggtgtcggcactgaaGtagtaggtcctcatgcctga	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000355661.3	-	9	793	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	261	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCACTGAAGTAGTAGGTCC	0.577																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(781-783)taC>taA		pleckstrin homology domain containing, family A member 7							120	98	106					11																	16863183		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863183G>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.783C>A	11.37:g.16863183G>T	ENSP00000347883:p.Tyr261*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*	p.Y261*			Q6IQ23	PKHA7_HUMAN			9	793	-			261			PH.		B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.783C>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775681	0.96922	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	1.26	0.21427	.	0.050847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6783	10.5457	0.45058	0.2786:0.0:0.7214:0.0	.	.	.	.	X	261	.	ENSP00000347883:Y261X	Y	-	3	2	PLEKHA7	16819759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.571000	0.53841	0.440000	0.26502	0.650000	0.86243	TAC		0.577	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		85	318	1	0	9.35349e-44	1	1.14279e-43	85	318					T	16863183	G	T	16863183	4	4	79	1	0	0	0	0	0	1	0	0	12103	1024	36	3	2642	3	PLEKHA7	11	16863183	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15265	16863183	118143333	11851	22168											
PLEKHA7	144100	broad.mit.edu	37	chr11	16877362	16877362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctcaccttgggtccaggCttggcctccagggtggaggc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16877362C>A	ENST00000355661.3	-	5	415	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	135					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGGTCCAGGCTTGGCCTCCA	0.522																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(403-405)aaG>aaT		pleckstrin homology domain containing, family A member 7							153	148	150					11																	16877362		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16877362C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.405G>T	11.37:g.16877362C>A	ENSP00000347883:p.Lys135Asn					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N	p.K135N			Q6IQ23	PKHA7_HUMAN			5	415	-			135					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.405G>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354909	0.41700	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.23348	3.22;3.22;3.22;1.91	5.65	1.41	0.22369	.	0.370841	0.31268	N	0.007950	T	0.13457	0.0326	L	0.27053	0.805	0.31977	N	0.606381	B;P	0.36282	0.282;0.546	B;B	0.31812	0.07;0.136	T	0.14811	-1.0459	10	0.33940	T	0.23	-26.8122	6.8654	0.24091	0.0:0.4738:0.0:0.5262	.	135;135	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	135;135;135;29	ENSP00000435389:K135N;ENSP00000347883:K135N;ENSP00000416895:K135N;ENSP00000435806:K29N	ENSP00000347883:K135N	K	-	3	2	PLEKHA7	16833938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.875000	0.28079	0.449000	0.26747	0.655000	0.94253	AAG		0.522	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		14	825	1	0	2.31682e-05	1	2.36778e-05	14	825					A	16877362	C	A	16877362	3	1	79	1	0	0	0	0	1	0	0	0	12103	796	28	3	3036	3	PLEKHA7	11	16877362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	16877362	118129154	11852	22169											
PIK3C2A	5286	broad.mit.edu	37	chr11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatttccagtttggggCgcttgctaatattttaggaa	9	8	0	0	rs573278976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)	p.A916S(1)|p.A916T(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CAGTTTGGGGCGCTTGCTAAT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15411	0.0		0.0	False		,,,				2504	0.0					ENST00000265970.7																			2	Substitution - Missense(2)	p.A916S(1)|p.A916T(1)	lung(1)|central_nervous_system(1)	central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2746-2748)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						112	115	114					11																	17141433		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17141433C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2746G>A	11.37:g.17141433C>T	ENSP00000265970:p.Ala916Thr					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	p.A916T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			15	2745	-			916					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2746G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549157	0.86127	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.61510	0.1;0.1	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.69495	0.3117	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.70898	-0.4747	10	0.49607	T	0.09	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	T	916;536	ENSP00000265970:A916T;ENSP00000438687:A536T	ENSP00000265970:A916T	A	-	1	0	PIK3C2A	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		88	334	0	0	0	1	0	88	334					T	17141433	C	T	17141433	3	4	79	1	0	0	0	0	1	0	0	0	11951	768	27	1	2386	1	PIK3C2A	11	17141433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264071	17141433	117865083	11853	22170											
PIK3C2A	5286	broad.mit.edu	37	chr11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaactttgcccaaagcTtctggtccctttctctgctt	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	786	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGCCCAAAGCTTCTGGTCCCT	0.383																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2356-2358)gaA>gaC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						92	97	95					11																	17150888		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17150888T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2358A>C	11.37:g.17150888T>G	ENSP00000265970:p.Glu786Asp					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	p.E786D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			12	2357	-			786					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2358A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025382	0.75390	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77877	-1.13;-1.13	6.17	5.05	0.67936	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.81540	-0.0886	10	0.28530	T	0.3	-26.1649	6.5547	0.22454	0.0:0.2214:0.0:0.7786	.	786	O00443	P3C2A_HUMAN	D	786;406	ENSP00000265970:E786D;ENSP00000438687:E406D	ENSP00000265970:E786D	E	-	3	2	PIK3C2A	17107464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	2.371000	0.80710	0.533000	0.62120	GAA		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		85	316	0	0	0	1	0	85	316					G	17150888	T	G	17150888	3	3	79	1	0	0	0	0	1	0	0	0	11951	1606	56	4	2786	4	PIK3C2A	11	17150888	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9455	17150888	117855628	11854	22171											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatagtaaactggagcTgctctgttgtagtccatgct	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	685	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAACTGGAGCTGCTCTGTTGT	0.428																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2053-2055)cAg>cGg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						139	140	140					11																	17156420		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156420T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2054A>G	11.37:g.17156420T>C	ENSP00000265970:p.Gln685Arg					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	p.Q685R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			10	2053	-			685					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2054A>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925415	0.52759	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62364	0.03;0.4	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.155014	0.56097	D	0.000027	T	0.51534	0.1680	L	0.40543	1.245	0.32711	N	0.511585	B	0.29716	0.255	B	0.27262	0.078	T	0.57093	-0.7870	10	0.11794	T	0.64	-0.5823	15.8332	0.78773	0.0:0.0:0.0:1.0	.	685	O00443	P3C2A_HUMAN	R	685;305	ENSP00000265970:Q685R;ENSP00000438687:Q305R	ENSP00000265970:Q685R	Q	-	2	0	PIK3C2A	17112996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.733000	0.74796	2.153000	0.67306	0.477000	0.44152	CAG		0.428	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		106	436	0	0	0	1	0	106	436					C	17156420	T	C	17156420	3	2	79	1	0	0	0	0	1	0	0	0	11951	1580	55	4	3098	4	PIK3C2A	11	17156420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5532	17156420	117850096	11855	22172											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttgcaagctgagttgttCgaatatttaaagactggctt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	342					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTGAGTTGTTCGAATATTTAA	0.373																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1024-1026)cGa>cAa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						93	98	96					11																	17190264		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190264C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1025G>A	11.37:g.17190264C>T	ENSP00000265970:p.Arg342Gln					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.R342Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	1024	-			342					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1025G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112024	0.37242	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64438	-0.1	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47002	0.1422	L	0.32530	0.975	0.80722	D	1	D;P	0.56287	0.975;0.717	B;B	0.41619	0.361;0.13	T	0.29882	-0.9997	10	0.11485	T	0.65	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	Q	342	ENSP00000265970:R342Q	ENSP00000265970:R342Q	R	-	2	0	PIK3C2A	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA		0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		41	506	0	0	0	1	0	41	506					T	17190264	C	T	17190264	3	4	79	1	0	0	0	0	1	0	0	0	11951	884	31	1	4163	1	PIK3C2A	11	17190264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33844	17190264	117816252	11856	22173											
NUCB2	4925	broad.mit.edu	37	chr11	17316892	17316892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtggaggaccatcctgCtacagtattgctttctcttg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000323688.6_Silent_p.L8L|NUCB2_ENST00000458064.2_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	8						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(22-24)Cta>Tta		nucleobindin 2							301	278	285					11																	17316892		1892	4121	6013	SO:0001819	synonymous_variant	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17316892C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.22C>T	11.37:g.17316892C>T						NUCB2_ENST00000458064.2_Silent_p.L8L|NUCB2_ENST00000323688.6_Silent_p.L8L	p.L8L	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			3	241	+			8					A8K642|D3DQX5|Q8NFT5	Silent	SNP	ENST00000529010.1	37	c.22C>T	CCDS41623.1																																																																																				0.353	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		156	660	0	0	0	1	0	156	660					T	17316892	C	T	17316892	2	4	79	1	0	0	0	0	0	0	0	1	10761	796	28	2		2	NUCB2	11	17316892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126628	17316892	117689624	11857	22174											
KCNJ11	3767	broad.mit.edu	37	chr11	17408543	17408543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcttgcgcaggggccCgcgggctgaggcgagggtca	20	12	1	1	rs149141985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408543C>T	ENST00000339994.4	-	1	1663	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.G279R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	366					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R365fs>24(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CGCAGGGGCCCGCGGGCTGAG	0.647											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			1	Deletion - Frameshift(1)	p.R365fs>24(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(1096-1098)Ggg>Agg		potassium inwardly-rectifying channel, subfamily J, member 11		C	ARG/GLY,ARG/GLY	0,4400		0,0,2200	61	62	61		1096,835	4.5	0.7	11	dbSNP_134	61	1,8585	2.2+/-6.3	0,1,4292	no	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	125,125	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	366/391,279/304	17408543	1,12985	2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408543C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1096G>A	11.37:g.17408543C>T	ENSP00000345708:p.Gly366Arg		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.G279R	p.G366R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1663	-			279					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.1096G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847502	0.32606	0.0	1.16E-4	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.87179	-2.22;-2.1	5.43	4.52	0.55395	.	0.728523	0.12595	N	0.455270	D	0.83312	0.5227	L	0.50333	1.59	0.22880	N	0.998612	P	0.48016	0.904	B	0.40825	0.341	T	0.75274	-0.3375	10	0.35671	T	0.21	.	11.8941	0.52646	0.0:0.9196:0.0:0.0804	.	366	B2RC52	.	R	366;279	ENSP00000345708:G366R;ENSP00000434755:G279R	ENSP00000345708:G366R	G	-	1	0	KCNJ11	17365119	0.891000	0.30450	0.655000	0.29622	0.747000	0.42532	2.403000	0.44530	2.548000	0.85928	0.561000	0.74099	GGG		0.647	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		11	440	0	0	0	1	0	11	440					T	17408543	C	T	17408543	3	4	79	1	0	0	0	0	1	0	0	0	8075	652	23	1	80	1	KCNJ11	11	17408543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91651	17408543	117597973	11858	22175											
KCNJ11	3767	broad.mit.edu	37	chr11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggctgtggtcctcatcaAgctggcgggccgtgcagagt	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	349					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GTCCTCATCAAGCTGGCGGGC	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(1045-1047)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11							122	112	115					11																	17408593		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408593A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1046T>G	11.37:g.17408593A>C	ENSP00000345708:p.Leu349Arg		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	p.L349R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1613	-			262					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.1046T>G	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990903	0.74703	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92545	-3.06;-3.06	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.95557	0.8556	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.96066	0.9042	10	0.87932	D	0	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	349	B2RC52	.	R	349;262	ENSP00000345708:L349R;ENSP00000434755:L262R	ENSP00000345708:L349R	L	-	2	0	KCNJ11	17365169	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.060000	0.61445	0.459000	0.35465	CTT		0.627	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		39	494	0	0	0	1	0	39	494					C	17408593	A	C	17408593	3	2	79	1	0	0	0	0	1	0	0	0	8075	72	3	4	130	4	KCNJ11	11	17408593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50	17408593	117597923	11859	22176											
ABCC8	6833	broad.mit.edu	37	chr11	17414677	17414677	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgtgcactcgatgcTgggcagggcaggagggggcg	22	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000389817.3	-	39	4677		c.e39-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACTCGATGCTGGGCAGGGCA	0.642																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67	GRCh37	CS025926|CS061237	ABCC8	S		c.e39-2		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						56	46	50					11																	17414677		2200	4293	6493	SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17414677T>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4609-2A>C	11.37:g.17414677T>G						ABCC8_ENST00000389817.3_Splice_Site		NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	39	4737	-								A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37		CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336514	0.60963	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.069	0.72021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17371253	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.683000	0.84093	1.968000	0.57251	0.459000	0.35465	.		0.642	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Intron	50	241	0	0	0	1	0	50	241					G	17414677	T	G	17414677	5	3	79	1	0	0	0	0	0	0	1	0	58	1594	55	4	142	4	ABCC8	11	17414677	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6084	17414677	117591839	11860	22177											
ABCC8	6833	broad.mit.edu	37	chr11	17496471	17496471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcaatctcacacaccagGacgaagagcagcatgaaggt	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000389817.3	-	2	320	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000302539.4_Silent_p.V84V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACACACCAGGACGAAGAGCA	0.557																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(250-252)gtC>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						215	149	171					11																	17496471		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17496471G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.252C>T	11.37:g.17496471G>A						ABCC8_ENST00000389817.3_Silent_p.V84V	p.V84V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	2	377	-			84					A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.252C>T	CCDS31437.1																																																																																				0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		48	236	0	0	0	1	0	48	236					A	17496471	G	A	17496471	2	1	79	1	0	0	0	0	0	0	0	1	58	1161	41	2		2	ABCC8	11	17496471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81794	17496471	117510045	11861	22178											
USH1C	10083	broad.mit.edu	37	chr11	17517163	17517163	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtgcacggcagcacGgtcttcaaggagctttcgga	14	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17517163G>A	ENST00000318024.4	-	20	1755				USH1C_ENST00000005226.7_Missense_Mutation_p.R870C|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACGGCAGCACGGTCTTCAAGG	0.587																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2608-2610)Cgt>Tgt		Usher syndrome 1C (autosomal recessive, severe)							112	119	117					11																	17517163		2200	4293	6493	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17517163G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1646+1141C>T	11.37:g.17517163G>A						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron	p.R870C	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			26	2607	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2608C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888013	0.33348	.	.	ENSG00000006611	ENST00000005226	T	0.24151	1.87	5.47	-8.1	0.01086	.	0.853604	0.10059	N	0.721166	T	0.10337	0.0253	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	9	0.39692	T	0.17	.	0.8868	0.01246	0.3703:0.2741:0.1379:0.2176	.	870	Q7RTU8	.	C	870	ENSP00000005226:R870C	ENSP00000005226:R870C	R	-	1	0	USH1C	17473739	0.298000	0.24417	0.002000	0.10522	0.879000	0.50718	0.246000	0.18160	-1.278000	0.02408	-0.142000	0.14014	CGT		0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		194	765	0	0	0	1	0	194	765					A	17517163	G	A	17517163	1	1	79	0	1	0	0	0	0	0	0	0	17088	1116	39	1		1	USH1C	11	17517163	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20692	17517163	117489353	11862	22179											
USH1C	10083	broad.mit.edu	37	chr11	17522689	17522689	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagggccaggtctaaGgatccctcctggttagagga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17522689G>T	ENST00000318024.4	-	18	1497	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	USH1C_ENST00000005226.7_Silent_p.S763S|USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.S432S	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	463	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCAGGTCTAAGGATCCCTCCT	0.587																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2287-2289)tcC>tcA		Usher syndrome 1C (autosomal recessive, severe)							56	48	50					11																	17522689		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17522689G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1389C>A	11.37:g.17522689G>T						USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000318024.4_Silent_p.S463S|USH1C_ENST00000527720.1_Silent_p.S432S	p.S763S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			23	2288	-			463					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.2289C>A	CCDS31438.1																																																																																				0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		5	125	1	0	1.23904e-05	1	1.26975e-05	5	125					T	17522689	G	T	17522689	2	4	79	1	0	0	0	0	0	0	0	1	17088	987	35	3		3	USH1C	11	17522689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5526	17522689	117483827	11863	22180											
USH1C	10083	broad.mit.edu	37	chr11	17545008	17545008	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcgacgccattgacttcGacaatctggtcccctatctg	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000318024.4	-	10	885	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000005226.7_Silent_p.V259V|USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	259	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATTGACTTCGACAATCTGGT	0.537																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(775-777)gtC>gtT		Usher syndrome 1C (autosomal recessive, severe)							122	106	111					11																	17545008		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17545008G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.777C>T	11.37:g.17545008G>A						USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000318024.4_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	p.V259V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			10	776	-			259			PDZ 2.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.777C>T	CCDS31438.1																																																																																				0.537	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		39	161	0	0	0	1	0	39	161					A	17545008	G	A	17545008	2	1	79	1	0	0	0	0	0	0	0	1	17088	1045	37	1		1	USH1C	11	17545008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22319	17545008	117461508	11864	22181											
KCNC1	3746	broad.mit.edu	37	chr11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgctcctctggacaacaGcgccgacgacgcggacgccg	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGGACAACAGCGCCGACGAC	0.711																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(388-390)aGc>aAc		potassium voltage-gated channel, Shaw-related subfamily, member 1							13	16	15					11																	17757938		2187	4284	6471	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757938G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.389G>A	11.37:g.17757938G>A	ENSP00000368785:p.Ser130Asn					KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	419	+			130					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.389G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597491	0.28445	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97016	-4.21;-4.21	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.90995	0.7168	N	0.03608	-0.345	0.34414	D	0.69675	B;B	0.16603	0.0;0.018	B;B	0.18263	0.001;0.021	T	0.75972	-0.3129	10	0.22706	T	0.39	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	N	130	ENSP00000265969:S130N;ENSP00000368785:S130N	ENSP00000265969:S130N	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC		0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		39	111	0	0	0	1	0	39	111					A	17757938	G	A	17757938	3	1	79	1	0	0	0	0	1	0	0	0	8044	971	34	2	391	2	KCNC1	11	17757938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212930	17757938	117248578	11865	22182											
KCNC1	3746	broad.mit.edu	37	chr11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcctgcgcgtcgtccGcttcgtgcgcatcttgcgca	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	314					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCGTCGTCCGCTTCGTGCGC	0.637																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(940-942)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 1							68	62	64					11																	17793582		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793582G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.941G>A	11.37:g.17793582G>A	ENSP00000368785:p.Arg314His					KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	971	+			314					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.941G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241352	0.79912	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99239	-5.61;-5.61	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97794	1.0240	10	0.87932	D	0	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	314;314	Q3KNS8;P48547	.;KCNC1_HUMAN	H	314	ENSP00000265969:R314H;ENSP00000368785:R314H	ENSP00000265969:R314H	R	+	2	0	KCNC1	17750158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	CGC		0.637	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		51	206	0	0	0	1	0	51	206					A	17793582	G	A	17793582	3	1	79	1	0	0	0	0	1	0	0	0	8044	1087	38	1	947	1	KCNC1	11	17793582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35644	17793582	117212934	11866	22183											
TPH1	7166	broad.mit.edu	37	chr11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggatctgaatactccGtgtatatggattatacttca	7	7	3	1	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	406					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(1216-1218)Cgg>Tgg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	228	223	225		1216	5.5	1	11	dbSNP_134	225	1,8585	1.2+/-3.3	0,1,4292	yes	missense	TPH1	NM_004179.2	101	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	406/445	18042657	2,12984	2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18042657G>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1216C>T	11.37:g.18042657G>A	ENSP00000250018:p.Arg406Trp					RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W|TPH1_ENST00000525406.1_5'UTR	p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			10	1778	-			406					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.1216C>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527324	0.96431	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99571	-6.19;-6.19	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.355631	0.33161	N	0.005214	D	0.99001	0.9659	L	0.29908	0.895	0.46317	D	0.998982	P	0.41643	0.758	P	0.50791	0.65	D	0.99898	1.1153	10	0.87932	D	0	-2.2416	19.8304	0.96632	0.0:0.0:1.0:0.0	.	406	P17752	TPH1_HUMAN	W	406	ENSP00000250018:R406W;ENSP00000343550:R406W	ENSP00000250018:R406W	R	-	1	2	TPH1	17999233	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGG		0.398	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		122	564	0	0	0	1	0	122	564					A	18042657	G	A	18042657	3	1	79	1	0	0	0	0	1	0	0	0	16454	1144	40	1	122	1	TPH1	11	18042657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249075	18042657	116963859	11867	22184											
TPH1	7166	broad.mit.edu	37	chr11	18057690	18057690	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagattcacatgcttctcCtgtgtaaagcacagggaaaa	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1						aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.e2-1		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						88	83	85					11																	18057690		2200	4293	6493	SO:0001630	splice_region_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057690C>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.118-1G>T	11.37:g.18057690C>A						TPH1_ENST00000341556.2_Splice_Site		NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			2	680	-								D3DQX6|O95188|O95189|Q16736|Q3KPG8	Splice_Site	SNP	ENST00000250018.2	37		CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234470	0.79800	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3742	0.94502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPH1	18014266	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.741000	0.84997	2.650000	0.89964	0.655000	0.94253	.		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	Intron	22	100	1	0	7.41877e-09	1	7.77385e-09	22	100					A	18057690	C	A	18057690	5	1	79	1	0	0	0	0	0	0	1	0	16454	695	24	3	1253	3	TPH1	11	18057690	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15033	18057690	116948826	11868	22185											
SAAL1	113174	broad.mit.edu	37	chr11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttgttgaacttgacaTaatgaagcaaatgctatcat	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000524803.1	-	6	620	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	191										breast(2)|large_intestine(5)|lung(8)	15						GAACTTGACATAATGAAGCAA	0.353																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(571-573)Atg>Gtg		serum amyloid A-like 1							49	46	47					11																	18111740		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18111740T>C	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.571A>G	11.37:g.18111740T>C	ENSP00000432487:p.Met191Val					SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V	p.M191V			Q96ER3	SAAL1_HUMAN			6	620	-			191					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.571A>G	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445277	0.63178	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.50813	1.36;0.73;1.3;0.84;0.73;1.3	5.78	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.081223	0.85682	D	0.000000	T	0.55847	0.1946	M	0.63843	1.955	0.42764	D	0.993818	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.53062	0.717;0.717;0.717	T	0.59247	-0.7490	10	0.72032	D	0.01	-13.3883	10.8183	0.46589	0.141:0.0:0.0:0.859	.	191;191;191	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	V	191;191;28;80;191;180	ENSP00000432487:M191V;ENSP00000300013:M191V;ENSP00000432044:M28V;ENSP00000436031:M80V;ENSP00000432216:M191V;ENSP00000431489:M180V	ENSP00000300013:M191V	M	-	1	0	SAAL1	18068316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	0.963000	0.38082	0.519000	0.50382	ATG		0.353	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	204	0	0	0	1	0	11	204					C	18111740	T	C	18111740	3	2	79	1	0	0	0	0	1	0	0	0	13851	1406	49	4	881	4	SAAL1	11	18111740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54050	18111740	116894776	11869	22186											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatctggtaccactgcCgccgccccagatacctgtca	9	18	2	1	rs565496221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTACCACTGCCGCCGCCCCAG	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.001					ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(397-399)Cgc>Tgc		MAS-related GPR, member X3							117	110	112					11																	18159146		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159146C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.397C>T	11.37:g.18159146C>T	ENSP00000379571:p.Arg133Cys						p.R133C	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	758	+			133					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.397C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910516	0.17833	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.73469	-0.75;-0.75	1.46	-0.827	0.10802	GPCR, rhodopsin-like superfamily (1);	0.878186	0.09819	N	0.751759	T	0.67401	0.2889	L	0.58925	1.835	0.24824	N	0.992564	B	0.22800	0.075	B	0.27715	0.082	T	0.60311	-0.7288	10	0.87932	D	0	.	5.0768	0.14636	0.0:0.4322:0.0:0.5678	.	133	Q96LB0	MRGX3_HUMAN	C	133	ENSP00000379571:R133C;ENSP00000436242:R133C	ENSP00000379571:R133C	R	+	1	0	MRGPRX3	18115722	0.001000	0.12720	0.035000	0.18076	0.017000	0.09413	1.191000	0.32138	-0.245000	0.09625	-0.450000	0.05554	CGC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		155	705	0	0	0	1	0	155	705					T	18159146	C	T	18159146	3	4	79	1	0	0	0	0	1	0	0	0	9809	652	23	1	399	1	MRGPRX3	11	18159146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47406	18159146	116847370	11870	22187											
SAA1	6288	broad.mit.edu	37	chr11	18290872	18290872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgcctgggctgcagaAgtgatcacgtaactggagct	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18290872A>C	ENST00000405158.2	+	3	406	c.222A>C	c.(220-222)gaA>gaC	p.E74D	SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	74					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGGCTGCAGAAGTGATCACGT	0.557																																						ENST00000405158.2																			0				endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9						c.(220-222)gaA>gaC		serum amyloid A1	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						18	19	18					11																	18290872		2189	4255	6444	SO:0001583	missense	6288				acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding	g.chr11:18290872A>C	M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.222A>C	11.37:g.18290872A>C	ENSP00000384906:p.Glu74Asp					SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	p.E74D	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN			3	406	+			74					P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	c.222A>C	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499676	0.44455	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.10763	2.84;2.84;2.84	3.23	0.744	0.18353	.	0.647219	0.15120	N	0.279424	T	0.18467	0.0443	M	0.78456	2.415	0.09310	N	1	B;P	0.43412	0.39;0.806	B;P	0.47864	0.161;0.559	T	0.07558	-1.0766	10	0.87932	D	0	.	6.286	0.21033	0.7704:0.0:0.2296:0.0	.	74;74	D3DQX7;P02735	.;SAA_HUMAN	D	74	ENSP00000348918:E74D;ENSP00000436866:E74D;ENSP00000384906:E74D	ENSP00000348918:E74D	E	+	3	2	SAA1	18247448	0.933000	0.31639	0.001000	0.08648	0.021000	0.10359	1.641000	0.37197	0.136000	0.18733	0.374000	0.22700	GAA		0.557	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		4	57	0	0	0	1	0	4	57					C	18290872	A	C	18290872	3	2	79	1	0	0	0	0	1	0	0	0	13848	69	3	4	228	4	SAA1	11	18290872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131726	18290872	116715644	11871	22188											
HPS5	11234	broad.mit.edu	37	chr11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcttgatactctccttcGctcttttcaagttcaggaga	7	10	4	2	rs200872830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000349215.3	-	16	2646	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	HPS5_ENST00000396253.3_Missense_Mutation_p.A676V|HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	790					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2026-2028)gCg>gTg		Hermansky-Pudlak syndrome 5		G	VAL/ALA,VAL/ALA,VAL/ALA	4,4394	8.1+/-20.4	0,4,2195	67	64	65		2027,2369,2027	2.3	1	11		65	0,8586		0,0,4293	yes	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	64,64,64	0,4,6488	AA,AG,GG		0.0,0.091,0.0308	benign,benign,benign	676/1016,790/1130,676/1016	18313060	4,12980	2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313060G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2369C>T	11.37:g.18313060G>A	ENSP00000265967:p.Ala790Val					HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.A790V	p.A676V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2489	-			790					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2027C>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	1.114	-0.657429	0.03480	9.1E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76709	-1.04;-1.04;-1.04	5.56	2.33	0.28932	.	0.299602	0.36303	N	0.002665	T	0.54351	0.1853	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	10	0.02654	T	1	.	5.3766	0.16168	0.5457:0.0:0.4543:0.0	.	790	Q9UPZ3	HPS5_HUMAN	V	676;676;790	ENSP00000379552:A676V;ENSP00000399590:A676V;ENSP00000265967:A790V	ENSP00000265967:A790V	A	-	2	0	HPS5	18269636	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.151000	0.58105	0.723000	0.32274	-0.751000	0.03497	GCG		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		32	169	0	0	0	1	0	32	169					A	18313060	G	A	18313060	3	1	79	1	0	0	0	0	1	0	0	0	7372	1087	38	1	1052	1	HPS5	11	18313060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22188	18313060	116693456	11872	22189											
GTF2H1	2965	broad.mit.edu	37	chr11	18359773	18359773	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgcaacagatagttcTtccacatccaatcataagca	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.S39S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	155					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(463-465)tcT>tcG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							197	179	185					11																	18359773		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18359773T>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.465T>G	11.37:g.18359773T>G						GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S	p.S155S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			4	625	+			155					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.465T>G	CCDS7838.1																																																																																				0.378	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		87	411	0	0	0	1	0	87	411					G	18359773	T	G	18359773	2	3	79	1	0	0	0	0	0	0	0	1	6890	1596	56	4		4	GTF2H1	11	18359773	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46713	18359773	116646743	11873	22190											
GTF2H1	2965	broad.mit.edu	37	chr11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacacatggcagtcacggCgtctgatgaagaaaacgtga	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	543					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1627-1629)Cgt>Tgt	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							144	122	130					11																	18387396		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18387396C>T		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1627C>T	11.37:g.18387396C>T	ENSP00000265963:p.Arg543Cys					GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C	p.R543C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			15	1787	+			543					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.1627C>T	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171966	0.78452	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.55588	1.66;1.66;1.66;0.55;0.51	5.95	5.03	0.67393	.	0.100411	0.64402	D	0.000001	T	0.66489	0.2794	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-3.5832	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	543	P32780	TF2H1_HUMAN	C	543;427;543;231;133	ENSP00000393638:R543C;ENSP00000435375:R427C;ENSP00000265963:R543C;ENSP00000433133:R231C;ENSP00000439774:R133C	ENSP00000265963:R543C	R	+	1	0	GTF2H1	18343972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	CGT		0.483	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		25	135	0	0	0	1	0	25	135					T	18387396	C	T	18387396	3	4	79	1	0	0	0	0	1	0	0	0	6890	768	27	1	1681	1	GTF2H1	11	18387396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27623	18387396	116619120	11874	22191											
TSG101	7251	broad.mit.edu	37	chr11	18536312	18536312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtcattgaactagtaggCttaacaaaacagataggggg	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000251968.3	-	4	685	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Silent_p.K90K	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	90	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(268-270)aaG>aaA		tumor susceptibility 101							156	168	164					11																	18536312		2199	4291	6490	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18536312C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.270G>A	11.37:g.18536312C>T						TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Silent_p.K90K	p.K90K			Q99816	TS101_HUMAN			4	404	-			90			UEV.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.270G>A	CCDS7842.1																																																																																				0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		86	535	0	0	0	1	0	86	535					T	18536312	C	T	18536312	2	4	79	1	0	0	0	0	0	0	0	1	16669	796	28	2		2	TSG101	11	18536312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148916	18536312	116470204	11875	22192											
TSG101	7251	broad.mit.edu	37	chr11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggcttaacaaaacagataGggggattatatgggtatgtg	13	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000251968.3	-	4	669	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.P85H	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	85	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(253-255)cCt>cAt		tumor susceptibility 101							151	164	160					11																	18536328		2199	4290	6489	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18536328G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.254C>A	11.37:g.18536328G>T	ENSP00000251968:p.Pro85His					TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Missense_Mutation_p.P85H	p.P85H			Q99816	TS101_HUMAN			4	388	-			85			UEV.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.254C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664400	0.67700	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.87179	-2.2;-2.22	5.78	5.78	0.91487	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	-17.6356	20.0203	0.97492	0.0:0.0:1.0:0.0	.	85	Q99816	TS101_HUMAN	H	85	ENSP00000438471:P85H;ENSP00000251968:P85H	ENSP00000251968:P85H	P	-	2	0	TSG101	18492904	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.646000	0.98474	2.730000	0.93505	0.655000	0.94253	CCT		0.323	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		103	596	1	0	6.25226e-48	1	7.70577e-48	103	596					T	18536328	G	T	18536328	3	4	79	1	0	0	0	0	1	0	0	0	16669	1000	35	3	946	3	TSG101	11	18536328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	18536328	116470188	11876	22193											
UEVLD	55293	broad.mit.edu	37	chr11	18557951	18557951	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccagtcagtgttAcctgttggacagctgcactt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368																																						ENST00000396197.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e10+1		UEV and lactate/malate dehyrogenase domains							157	145	149					11																	18557951		2199	4293	6492	SO:0001630	splice_region_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18557951A>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1124+1T>C	11.37:g.18557951A>G						UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site		NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			10	1153	-									Splice_Site	SNP	ENST00000396197.3	37		CCDS41624.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309367	0.40895	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UEVLD	18514527	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.689000	0.61723	2.167000	0.68274	0.374000	0.22700	.		0.368	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314	Intron	98	432	0	0	0	1	0	98	432					G	18557951	A	G	18557951	5	3	79	1	0	0	0	0	0	0	1	0	16987	405	14	4	301	4	UEVLD	11	18557951	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21623	18557951	116448565	11877	22194											
TMEM86A	144110	broad.mit.edu	37	chr11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtgtcctccaggtgaAgagtgaaggacccaaactgg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000280734.2	+	2	122	c.26A>C	c.(25-27)aAg>aCg	p.K9T	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	9						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(25-27)aAg>aCg		transmembrane protein 86A							145	129	134					11																	18722484		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18722484A>C	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.26A>C	11.37:g.18722484A>C	ENSP00000280734:p.Lys9Thr					TMEM86A_ENST00000527002.1_3'UTR	p.K9T	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			2	122	+			9					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.26A>C	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716213	0.68844	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.29655	1.56	4.09	4.09	0.47781	.	0.119442	0.56097	D	0.000028	T	0.48429	0.1499	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.45026	-0.9289	10	0.46703	T	0.11	-6.8659	8.3037	0.32029	0.9098:0.0:0.0902:0.0	.	9	Q8N2M4	TM86A_HUMAN	T	9	ENSP00000280734:K9T	ENSP00000280734:K9T	K	+	2	0	TMEM86A	18679060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.952000	0.75989	1.850000	0.53721	0.379000	0.24179	AAG		0.572	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		141	526	0	0	0	1	0	141	526					C	18722484	A	C	18722484	3	2	79	1	0	0	0	0	1	0	0	0	16260	72	3	4	32	4	TMEM86A	11	18722484	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164533	18722484	116284032	11878	22195											
TMEM86A	144110	broad.mit.edu	37	chr11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagctggcagtggtgCactcttctttatcatctcag	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	183						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(547-549)gCa>gTa		transmembrane protein 86A							109	92	98					11																	18723381		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723381C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.548C>T	11.37:g.18723381C>T	ENSP00000280734:p.Ala183Val						p.A183V	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	644	+			183					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.548C>T	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499632	0.64298	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.38887	1.11	5.43	5.43	0.79202	.	0.054144	0.64402	D	0.000001	T	0.72661	0.3488	M	0.92219	3.285	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.78866	-0.2035	9	.	.	.	-6.7924	19.428	0.94751	0.0:1.0:0.0:0.0	.	183	Q8N2M4	TM86A_HUMAN	V	183	ENSP00000280734:A183V	.	A	+	2	0	TMEM86A	18679957	1.000000	0.71417	0.426000	0.26672	0.055000	0.15305	7.307000	0.78920	2.824000	0.97209	0.655000	0.94253	GCA		0.582	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		66	349	0	0	0	1	0	66	349					T	18723381	C	T	18723381	3	4	79	1	0	0	0	0	1	0	0	0	16260	710	25	2	558	2	TMEM86A	11	18723381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	18723381	116283135	11879	22196											
IGSF22	283284	broad.mit.edu	37	chr11	18729430	18729430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacacccctgagtcagaGcgcttggtgctattaatgag	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'Flank	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGTCAGAGCGCTTGGTGC	0.522																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(3199-3201)cgC>cgT		immunoglobulin superfamily, member 22							196	167	176					11																	18729430		692	1591	2283	SO:0001819	synonymous_variant	283284							g.chr11:18729430G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3201C>T	11.37:g.18729430G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.R1067R	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			20	3340	-			672					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.3201C>T	CCDS41625.2																																																																																				0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		26	160	0	0	0	1	0	26	160					A	18729430	G	A	18729430	2	1	79	1	0	0	0	0	0	0	0	1	7630	958	34	2		2	IGSF22	11	18729430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6049	18729430	116277086	11880	22197											
IGSF22	283284	broad.mit.edu	37	chr11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgagcagcccccgaaagtCggtgaaaccatactccatgc	9	15	0	2	rs199982292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	214	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCCCGAAAGTCGGTGAAACCA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21333	0.0		0.002	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(640-642)Gac>Aac		immunoglobulin superfamily, member 22		C	ASN/ASP	5,3725		0,5,1860	174	171	172		640	3.3	0.1	11		172	25,8191		0,25,4083	yes	missense	IGSF22	NM_173588.3	23	0,30,5943	TT,TC,CC		0.3043,0.134,0.2511	probably-damaging	214/1327	18741319	30,11916	1865	4108	5973	SO:0001583	missense	283284							g.chr11:18741319C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.640G>A	11.37:g.18741319C>T	ENSP00000421191:p.Asp214Asn					RP11-1081L13.4_ENST00000527285.1_RNA	p.D214N	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			7	779	-			214			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.640G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797221	0.70567	0.00134	0.003043	ENSG00000179057	ENST00000513874	T	0.60672	0.17	5.15	3.29	0.37713	.	0.177861	0.26804	N	0.022415	T	0.51415	0.1673	M	0.78285	2.405	0.21064	N	0.999792	D	0.56521	0.976	B	0.41174	0.349	T	0.47471	-0.9115	10	0.24483	T	0.36	.	6.0508	0.19785	0.15:0.6882:0.0:0.1618	.	214	D6RGV7	.	N	214	ENSP00000421191:D214N	ENSP00000322422:D214N	D	-	1	0	IGSF22	18697895	0.804000	0.28969	0.134000	0.22075	0.949000	0.60115	1.415000	0.34748	0.578000	0.29487	0.650000	0.86243	GAC		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		218	933	0	0	0	1	0	218	933					T	18741319	C	T	18741319	3	4	79	1	0	0	0	0	1	0	0	0	7630	884	31	1	3408	1	IGSF22	11	18741319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11889	18741319	116265197	11881	22198											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaggacggacaggcagCgctcggtgctcacggcactc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACAGGCAGCGCTCGGTGCT	0.587																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(358-360)cGc>cAc		MAS-related GPR, member X1							94	86	89					11																	18955973		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955973C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.359G>A	11.37:g.18955973C>T	ENSP00000305766:p.Arg120His					MRGPRX1_ENST00000526914.1_5'UTR	p.R120H	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	583	-			120					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.359G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228404	0.79576	.	.	ENSG00000170255	ENST00000302797	D	0.97161	-4.27	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.97754	0.9263	M	0.93150	3.385	0.24603	N	0.993768	D	0.56968	0.978	P	0.56398	0.797	D	0.94314	0.7548	10	0.87932	D	0	.	6.9697	0.24642	0.0:0.6113:0.0:0.3887	.	120	Q96LB2	MRGX1_HUMAN	H	120	ENSP00000305766:R120H	ENSP00000305766:R120H	R	-	2	0	MRGPRX1	18912549	0.057000	0.20700	0.039000	0.18376	0.683000	0.39861	1.610000	0.36869	-0.258000	0.09446	0.491000	0.48974	CGC		0.587	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		110	505	0	0	0	1	0	110	505					T	18955973	C	T	18955973	3	4	79	1	0	0	0	0	1	0	0	0	9807	768	27	1	613	1	MRGPRX1	11	18955973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214654	18955973	116050543	11882	22199											
E2F8	79733	broad.mit.edu	37	chr11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggatctcagggctcacaGcactgatgagcattttcagg	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	69					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCTCACAGCACTGATGAG	0.512																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(205-207)gCt>gTt		E2F transcription factor 8							195	200	198					11																	19259489		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259489G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.206C>T	11.37:g.19259489G>A	ENSP00000434199:p.Ala69Val					RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A69V	p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			3	438	-			69					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.206C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408560	0.96051	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.60672	0.87;0.87;0.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.66056	D	0.02	-15.7278	19.0694	0.93126	0.0:0.0:1.0:0.0	.	69	A0AVK6	E2F8_HUMAN	V	69	ENSP00000434199:A69V;ENSP00000250024:A69V;ENSP00000437326:A69V	ENSP00000250024:A69V	A	-	2	0	E2F8	19216065	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.777000	0.99008	2.654000	0.90174	0.655000	0.94253	GCT		0.512	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		188	829	0	0	0	1	0	188	829					A	19259489	G	A	19259489	3	1	79	1	0	0	0	0	1	0	0	0	4889	971	34	2	2441	2	E2F8	11	19259489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303516	19259489	115747027	11883	22200											
NAV2	89797	broad.mit.edu	37	chr11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgatacaagcagcagcaGcagcagccccagaagcagca	10	15	0	1	rs376881740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396087.3	+	5	681	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	194	Gln-rich.				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)			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						agcagcagcagcagcagcccc	0.607																																						ENST00000396085.1																			0				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						c.(580-582)caG>caT		neuron navigator 2							51	57	55					11																	19901485		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901485G>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.582G>T	11.37:g.19901485G>T	ENSP00000379396:p.Gln194His					NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H	p.Q194H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	943	+			194			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.582G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555291	0.86231	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.93	3.04	0.35103	.	0.000000	0.53938	D	0.000048	T	0.56366	0.1980	N	0.22421	0.69	0.80722	D	1	D;P	0.63046	0.992;0.939	P;P	0.61658	0.892;0.687	T	0.51826	-0.8656	9	.	.	.	.	11.3753	0.49724	0.2009:0.0:0.7991:0.0	.	194;130	Q8IVL1-3;Q8IVL1-4	.;.	H	130;194;194;194;123;125	ENSP00000353871:Q130H;ENSP00000379394:Q194H;ENSP00000309577:Q194H;ENSP00000379396:Q194H;ENSP00000435395:Q123H;ENSP00000443489:Q125H	.	Q	+	3	2	NAV2	19858061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.847000	0.35167	0.561000	0.74099	CAG		0.607	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		98	406	1	0	9.24773e-40	1	1.11906e-39	98	406					T	19901485	G	T	19901485	3	4	79	1	0	0	0	0	1	0	0	0	10225	962	34	3	679	3	NAV2	11	19901485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641996	19901485	115105031	11884	22201											
NAV2	89797	broad.mit.edu	37	chr11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagccagcgccacatcaGcagtcaaaagcacaagctga	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396087.3	+	5	837	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	246	Gln-rich.				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)			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						CGCCACATCAGCAGTCAAAAG	0.622																																						ENST00000396085.1																			0				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						c.(736-738)caG>caT		neuron navigator 2							35	33	34					11																	19901641		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901641G>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.738G>T	11.37:g.19901641G>T	ENSP00000379396:p.Gln246His					NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H	p.Q246H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	1099	+			246			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.738G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715084	0.48622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28895	1.61;1.71;1.71;1.69;1.59;1.59	5.73	5.73	0.89815	.	0.122438	0.37261	N	0.002163	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09840	-1.0656	9	.	.	.	.	7.7447	0.28862	0.0795:0.0:0.7134:0.2071	.	246;182	Q8IVL1-3;Q8IVL1-4	.;.	H	182;246;246;246;175;177	ENSP00000353871:Q182H;ENSP00000379394:Q246H;ENSP00000309577:Q246H;ENSP00000379396:Q246H;ENSP00000435395:Q175H;ENSP00000443489:Q177H	.	Q	+	3	2	NAV2	19858217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.358000	0.44134	2.710000	0.92621	0.561000	0.74099	CAG		0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		35	140	1	0	3.93418e-24	1	4.48831e-24	35	140					T	19901641	G	T	19901641	3	4	79	1	0	0	0	0	1	0	0	0	10225	962	34	3	835	3	NAV2	11	19901641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	19901641	115104875	11885	22202											
NAV2	89797	broad.mit.edu	37	chr11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccacttcaccaagactgGacagcctgctctggaagaac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396087.3	+	9	2288	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396085.1_Missense_Mutation_p.G707E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	730					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)			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						ACCAAGACTGGACAGCCTGCT	0.532																																						ENST00000396085.1																			0				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						c.(2119-2121)gGa>gAa		neuron navigator 2							137	105	116					11																	19961293		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19961293G>A	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.2189G>A	11.37:g.19961293G>A	ENSP00000379396:p.Gly730Glu					NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396087.3_Missense_Mutation_p.G730E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E	p.G707E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			8	2481	+			730					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2120G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132349	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.61;1.61	5.71	4.78	0.61160	.	0.094301	0.46442	D	0.000290	T	0.28665	0.0710	L	0.44542	1.39	0.80722	D	1	B;B	0.21071	0.051;0.041	B;B	0.22753	0.041;0.031	T	0.03784	-1.1004	9	.	.	.	.	16.3163	0.82930	0.0:0.2485:0.7515:0.0	.	707;643	Q8IVL1-3;Q8IVL1-4	.;.	E	643;707;707;730;659;661	ENSP00000353871:G643E;ENSP00000379394:G707E;ENSP00000309577:G707E;ENSP00000379396:G730E;ENSP00000435395:G659E;ENSP00000443489:G661E	.	G	+	2	0	NAV2	19917869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	1.372000	0.46190	0.563000	0.77884	GGA		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	133	0	0	0	1	0	29	133					A	19961293	G	A	19961293	3	1	79	1	0	0	0	0	1	0	0	0	10225	1174	41	2	2229	2	NAV2	11	19961293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59652	19961293	115045223	11886	22203											
NAV2	89797	broad.mit.edu	37	chr11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaaggaaggctttctcCtaaagcctcccaggtgaagc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396087.3	+	15	3413	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000396085.1_Missense_Mutation_p.P1082L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1105					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)			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						AGGCTTTCTCCTAAAGCCTCC	0.542																																						ENST00000396085.1																			0				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						c.(3244-3246)cCt>cTt		neuron navigator 2							53	50	51					11																	20066559		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066559C>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.3314C>T	11.37:g.20066559C>T	ENSP00000379396:p.Pro1105Leu					NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1105L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L	p.P1082L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			14	3606	+			1105					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3245C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404617	0.62288	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.39036	0.1063	N	0.24115	0.695	0.80722	D	1	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.166;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.108;0.999	T	0.08513	-1.0718	9	.	.	.	.	19.6575	0.95849	0.0:1.0:0.0:0.0	.	1105;168;168;1082;1018	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	L	1018;1082;1082;1105;1034;1036;168;168;168;168	ENSP00000353871:P1018L;ENSP00000379394:P1082L;ENSP00000309577:P1082L;ENSP00000379396:P1105L;ENSP00000435395:P1034L;ENSP00000443489:P1036L;ENSP00000437316:P168L;ENSP00000437136:P168L;ENSP00000312169:P168L	.	P	+	2	0	NAV2	20023135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.728000	0.93425	0.650000	0.86243	CCT		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		57	235	0	0	0	1	0	57	235					T	20066559	C	T	20066559	3	4	79	1	0	0	0	0	1	0	0	0	10225	681	24	2	3408	2	NAV2	11	20066559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105266	20066559	114939957	11887	22204											
NAV2	89797	broad.mit.edu	37	chr11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacccagctgacagcaAatgtaagtacagacataggg	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396087.3	+	24	5248	c.5149A>C	c.(5149-5151)Aat>Cat	p.N1717H	NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000396085.1_Missense_Mutation_p.N1661H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717					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)			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						GCTGACAGCAAATGTAAGTAC	0.507																																						ENST00000396085.1																			0				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						c.(4981-4983)Aat>Cat		neuron navigator 2							90	86	87					11																	20089942		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20089942A>C	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.5149A>C	11.37:g.20089942A>C	ENSP00000379396:p.Asn1717His					NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000396087.3_Missense_Mutation_p.N1717H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H	p.N1661H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			22	5342	+			1717			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4981A>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600692	0.87055	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	D	0.95414	0.8511	L	0.60067	1.865	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.989;0.991;1.0;0.999	D;D;P;D;D;D	0.80764	0.985;0.959;0.847;0.914;0.994;0.949	D	0.94978	0.8123	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1661;1717;725;710;1661;1597	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1597;1661;1661;1717;1646;1648;725;710;725;710	ENSP00000353871:N1597H;ENSP00000379394:N1661H;ENSP00000309577:N1661H;ENSP00000379396:N1717H;ENSP00000435395:N1646H;ENSP00000443489:N1648H;ENSP00000437316:N725H;ENSP00000437136:N710H;ENSP00000312169:N725H	.	N	+	1	0	NAV2	20046518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.060000	0.61445	0.454000	0.30748	AAT		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		75	327	0	0	0	1	0	75	327					C	20089942	A	C	20089942	3	2	79	1	0	0	0	0	1	0	0	0	10225	14	1	4	5176	4	NAV2	11	20089942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23383	20089942	114916574	11888	22205											
HTATIP2	10553	broad.mit.edu	37	chr11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagagggaaagctggggCggtaaggaaggcatatgctc	16	8	0	1	rs148194087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAGCTGGGGCGGTAAGGAAG	0.458																																						ENST00000532081.1																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(301-303)gCg>gTg		HIV-1 Tat interactive protein 2, 30kDa		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	251	244	247		404,302,302,302,302	5.6	1	11	dbSNP_134	247	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense,missense-near-splice	HTATIP2	NM_001098520.1,NM_001098521.1,NM_001098522.1,NM_001098523.1,NM_006410.4	64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	135/277,101/243,101/243,101/134,101/243	20388826	1,13005	2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20388826C>T	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000532081.1:c.302C>T	11.37:g.20388826C>T	ENSP00000432107:p.Ala101Val					HTATIP2_ENST00000419348.2_Splice_Site_p.A135_splice|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000451739.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000531058.1_Splice_Site_p.A101_splice|HTATIP2_ENST00000443524.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V	p.A101V	NM_001098523.1	NP_001091993.1	Q9BUP3	HTAI2_HUMAN			2	399	+			101						Missense_Mutation	SNP	ENST00000532081.1	37	c.302C>T	CCDS53613.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	0.0	1.16E-4	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32023	1.47;1.55;1.55;1.55;1.55;1.47;1.47;1.55	5.6	5.6	0.85130	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.145254	0.64402	D	0.000008	T	0.35189	0.0923	L	0.36672	1.1	0.23823	N	0.996744	P;D;B	0.65815	0.813;0.995;0.42	B;P;B	0.54499	0.266;0.754;0.014	T	0.18304	-1.0341	10	0.30078	T	0.28	-15.037	12.1009	0.53783	0.1716:0.8283:0.0:0.0	.	101;101;135	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	V	101;101;101;135;101;101;101;101	ENSP00000436548:A101V;ENSP00000397752:A101V;ENSP00000387876:A101V;ENSP00000392985:A135V;ENSP00000394259:A101V;ENSP00000432338:A101V;ENSP00000432107:A101V;ENSP00000436729:A101V	ENSP00000392985:A135V	A	+	2	0	HTATIP2	20345402	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	3.083000	0.50136	2.633000	0.89246	0.555000	0.69702	GCG		0.458	HTATIP2-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387446.2	NM_001098521		11	346	0	0	0	1	0	11	346					T	20388826	C	T	20388826	3	4	79	1	0	0	0	0	1	0	0	0	7462	782	27	1	414	1	HTATIP2	11	20388826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298884	20388826	114617690	11889	22206											
HTATIP2	10553	broad.mit.edu	37	chr11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttggctccttaccagactCttgggccagtgggcattctg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(580-582)tCt>tTt		HIV-1 Tat interactive protein 2, 30kDa							83	66	72					11																	20404603		2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404603C>T	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.581C>T	11.37:g.20404603C>T	ENSP00000394259:p.Ser194Phe					HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F	p.S194F	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			5	1022	+			194						Missense_Mutation	SNP	ENST00000451739.2	37	c.581C>T	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	HTATIP2	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT		0.448	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		28	124	0	0	0	1	0	28	124					T	20404603	C	T	20404603	3	4	79	1	0	0	0	0	1	0	0	0	7462	913	32	2	804	2	HTATIP2	11	20404603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15777	20404603	114601913	11890	22207											
PRMT3	10196	broad.mit.edu	37	chr11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatatggaagccaggGcactgtctgctgaagccgca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	169					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(505-507)Gca>Aca		protein arginine methyltransferase 3							79	77	78					11																	20417453		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20417453G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.505G>A	11.37:g.20417453G>A	ENSP00000331879:p.Ala169Thr					PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	p.A169T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			6	722	+			169					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.505G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372320	0.82573	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26810	1.71;1.71	5.62	5.62	0.85841	.	0.045693	0.85682	D	0.000000	T	0.43634	0.1256	M	0.61703	1.905	0.58432	D	0.999999	P;D	0.69078	0.887;0.997	P;P	0.58210	0.69;0.835	T	0.06807	-1.0806	10	0.16896	T	0.51	-19.0595	19.6155	0.95632	0.0:0.0:1.0:0.0	.	107;169	O60678-2;O60678	.;ANM3_HUMAN	T	169;169;107	ENSP00000331879:A169T;ENSP00000397766:A107T	ENSP00000331879:A169T	A	+	1	0	PRMT3	20374029	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.473000	0.81007	2.801000	0.96364	0.650000	0.86243	GCA		0.398	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		66	291	0	0	0	1	0	66	291					A	20417453	G	A	20417453	3	1	79	1	0	0	0	0	1	0	0	0	12585	1203	42	2	527	2	PRMT3	11	20417453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12850	20417453	114589063	11891	22208											
PRMT3	10196	broad.mit.edu	37	chr11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcaactcaaacttatggtCtccagtgaaacagccataaa	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	530	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACTTATGGTCTCCAGTGAAA	0.448																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1588-1590)Ctc>Atc		protein arginine methyltransferase 3							82	71	74					11																	20529951		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20529951C>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1588C>A	11.37:g.20529951C>A	ENSP00000331879:p.Leu530Ile					PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	p.L530I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			16	1805	+			530					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1588C>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452315	0.43531	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	T;T	0.32023	1.47;1.47	5.71	4.75	0.60458	.	0.056069	0.64402	D	0.000001	T	0.32675	0.0837	L	0.60845	1.875	0.53005	D	0.999961	B;B	0.18741	0.03;0.01	B;B	0.29176	0.099;0.046	T	0.13953	-1.0490	10	0.52906	T	0.07	-11.2682	11.1838	0.48644	0.1831:0.8169:0.0:0.0	.	468;530	O60678-2;O60678	.;ANM3_HUMAN	I	530;468	ENSP00000331879:L530I;ENSP00000397766:L468I	ENSP00000331879:L530I	L	+	1	0	PRMT3	20486527	0.992000	0.36948	0.977000	0.42913	0.717000	0.41224	2.991000	0.49409	2.684000	0.91462	0.650000	0.86243	CTC		0.448	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		13	249	1	0	1.52009e-12	1	1.63397e-12	13	249					A	20529951	C	A	20529951	3	1	79	1	0	0	0	0	1	0	0	0	12585	913	32	3	1650	3	PRMT3	11	20529951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112498	20529951	114476565	11892	22209											
SLC6A5	9152	broad.mit.edu	37	chr11	20629158	20629158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctcctgcaacaacccttgGaatacgccagaatgcaaaga	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20629158G>T	ENST00000525748.1	+	5	1218	c.945G>T	c.(943-945)tgG>tgT	p.W315C		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	315					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACAACCCTTGGAATACGCCAG	0.373																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(943-945)tgG>tgT		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						137	131	133					11																	20629158		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20629158G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.945G>T	11.37:g.20629158G>T	ENSP00000434364:p.Trp315Cys						p.W315C	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			5	1218	+			315					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.945G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279578	0.80692	.	.	ENSG00000165970	ENST00000525748	T	0.77098	-1.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	H	0.97465	4.01	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	D	0.94527	0.7732	10	0.87932	D	0	.	19.4682	0.94951	0.0:0.0:1.0:0.0	.	315	Q9Y345	SC6A5_HUMAN	C	315	ENSP00000434364:W315C	ENSP00000434364:W315C	W	+	3	0	SLC6A5	20585734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.699000	0.92147	0.563000	0.77884	TGG		0.373	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		13	701	1	0	4.3838e-07	1	4.54049e-07	13	701					T	20629158	G	T	20629158	3	4	79	1	0	0	0	0	1	0	0	0	14737	1183	41	3	963	3	SLC6A5	11	20629158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99207	20629158	114377358	11893	22210											
SLC6A5	9152	broad.mit.edu	37	chr11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcatctttgccggcttcGtcatcttctccgttatcggc	8	14	4	0	rs570442943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	519					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V519I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23498	0.0		0.0	False		,,,				2504	0.0					ENST00000525748.1																			1	Substitution - Missense(1)	p.V519I(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1555-1557)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						203	171	182					11																	20652292		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652292G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1555G>A	11.37:g.20652292G>A	ENSP00000434364:p.Val519Ile					SLC6A5_ENST00000528440.1_3'UTR	p.V519I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1828	+			519					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1555G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930191	0.92389	.	.	ENSG00000165970	ENST00000525748	T	0.75589	-0.95	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	D	0.82912	0.5140	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83931	0.0306	10	0.72032	D	0.01	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	519	Q9Y345	SC6A5_HUMAN	I	519	ENSP00000434364:V519I	ENSP00000434364:V519I	V	+	1	0	SLC6A5	20608868	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	9.869000	0.99810	2.618000	0.88619	0.655000	0.94253	GTC		0.498	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		108	437	0	0	0	1	0	108	437					A	20652292	G	A	20652292	3	1	79	1	0	0	0	0	1	0	0	0	14737	1145	40	1	1593	1	SLC6A5	11	20652292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23134	20652292	114354224	11894	22211											
NELL1	4745	broad.mit.edu	37	chr11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgagtggactgctctatcGagatcaagactcttgggtag	13	7	3	3	rs140129150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000357134.5	+	8	994	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R309Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(925-927)cGa>cAa		NEL-like 1 (chicken)							127	120	123					11																	20948936		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20948936G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.842G>A	11.37:g.20948936G>A	ENSP00000349654:p.Arg281Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R281Q	p.R309Q			Q92832	NELL1_HUMAN			9	1079	+			281			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.926G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076534	0.94000	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.41824	1.3	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.987;0.999	D;D;P;D	0.80764	0.99;0.994;0.629;0.994	T	0.75158	-0.3416	10	0.30078	T	0.28	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	309;281;224;281	ENSP00000298925:R309Q;ENSP00000349654:R281Q;ENSP00000317837:R224Q;ENSP00000437170:R281Q	ENSP00000298925:R309Q	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA		0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		62	265	0	0	0	1	0	62	265					A	20948936	G	A	20948936	3	1	79	1	0	0	0	0	1	0	0	0	10375	1058	37	1	872	1	NELL1	11	20948936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296644	20948936	114057580	11895	22212											
NELL1	4745	broad.mit.edu	37	chr11	21581775	21581775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactcacacctgttggaaCgattctgcctgcatcaacct	7	13	3	1	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000357134.5	+	17	1979	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N	NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000298925.5_Silent_p.N637N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	609	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1909-1911)aaC>aaT		NEL-like 1 (chicken)		C	,	0,4406		0,0,2203	156	139	145		1827,1686	-0.5	1	11	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	609/811,562/764	21581775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581775C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1827C>T	11.37:g.21581775C>T						NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000357134.5_Silent_p.N609N	p.N637N			Q92832	NELL1_HUMAN			18	2064	+			609			VWFC 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1911C>T	CCDS7855.1																																																																																				0.507	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		105	509	0	0	0	1	0	105	509					T	21581775	C	T	21581775	2	4	79	1	0	0	0	0	0	0	0	1	10375	535	19	1		1	NELL1	11	21581775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632839	21581775	113424741	11896	22213											
ANO5	203859	broad.mit.edu	37	chr11	22225378	22225378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaataagcatatagactaCtctttccaaatgagtgaggt	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	23					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATAGACTACTCTTTCCAAA	0.279																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(67-69)taC>taT		anoctamin 5							33	34	34					11																	22225378		2163	4255	6418	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22225378C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.69C>T	11.37:g.22225378C>T							p.Y23Y	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			2	386	+			23						Silent	SNP	ENST00000324559.8	37	c.69C>T	CCDS31444.1																																																																																				0.279	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		6	61	0	0	0	1	0	6	61					T	22225378	C	T	22225378	2	4	79	1	0	0	0	0	0	0	0	1	700	576	20	2		2	ANO5	11	22225378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643603	22225378	112781138	11897	22214											
ANO5	203859	broad.mit.edu	37	chr11	22283829	22283829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacatatttatttaatgaGtggagaagtgaagaggtaag	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	595					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTAATGAGTGGAGAAGTG	0.363																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1783-1785)gaG>gaA		anoctamin 5							103	103	103					11																	22283829		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283829G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1785G>A	11.37:g.22283829G>A							p.E595E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			16	2102	+			595						Silent	SNP	ENST00000324559.8	37	c.1785G>A	CCDS31444.1																																																																																				0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		81	406	0	0	0	1	0	81	406					A	22283829	G	A	22283829	2	1	79	1	0	0	0	0	0	0	0	1	700	1020	36	2		2	ANO5	11	22283829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58451	22283829	112722687	11898	22215											
ANO5	203859	broad.mit.edu	37	chr11	22301230	22301230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaaattaaaagagaaCttgggaattaattctaatga	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	887					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAAAGAGAACTTGGGAATTA	0.353																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2659-2661)aaC>aaT		anoctamin 5							67	71	70					11																	22301230		2203	4299	6502	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301230C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2661C>T	11.37:g.22301230C>T							p.N887N	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			22	2978	+			887						Silent	SNP	ENST00000324559.8	37	c.2661C>T	CCDS31444.1																																																																																				0.353	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		39	235	0	0	0	1	0	39	235					T	22301230	C	T	22301230	2	4	79	1	0	0	0	0	0	0	0	1	700	564	20	2		2	ANO5	11	22301230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17401	22301230	112705286	11899	22216											
SLC17A6	57084	broad.mit.edu	37	chr11	22363311	22363311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccatccaccgcgggggCaaggtcatcaaggaggtggg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					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.G108G(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						ACCGCGGGGGCAAGGTCATCA	0.632																																						ENST00000263160.3																			1	Substitution - coding silent(1)	p.G108G(1)	lung(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						c.(322-324)ggC>ggT		solute carrier family 17 (vesicular glutamate transporter), member 6							62	52	56					11																	22363311		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363311C>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.324C>T	11.37:g.22363311C>T							p.G108G	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			2	761	+			108					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.324C>T	CCDS7856.1																																																																																				0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		59	283	0	0	0	1	0	59	283					T	22363311	C	T	22363311	2	4	79	1	0	0	0	0	0	0	0	1	14471	697	25	2		2	SLC17A6	11	22363311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62081	22363311	112643205	11900	22217											
SLC17A6	57084	broad.mit.edu	37	chr11	22381043	22381043	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcattatggatgtgtcatCtttgtcagaatactgcaggg	12	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					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)			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						GATGTGTCATCTTTGTCAGAA	0.408																																						ENST00000263160.3																			0				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						c.(541-543)atC>atA		solute carrier family 17 (vesicular glutamate transporter), member 6							153	138	143					11																	22381043		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22381043C>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.543C>A	11.37:g.22381043C>A							p.I181I	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			4	980	+			181					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.543C>A	CCDS7856.1																																																																																				0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		36	215	1	0	2.95478e-19	1	3.29235e-19	36	215					A	22381043	C	A	22381043	2	1	79	1	0	0	0	0	0	0	0	1	14471	903	32	3		3	SLC17A6	11	22381043	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17732	22381043	112625473	11901	22218											
GAS2	2620	broad.mit.edu	37	chr11	22696559	22696559	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggttaaccaatctattAggtaaggttataagatctca	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000433790.1_Splice_Site_p.L48L|GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	48	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.e2+1		growth arrest-specific 2							74	73	73					11																	22696559		2203	4300	6503	SO:0001630	splice_region_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696559A>G	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.145+1A>G	11.37:g.22696559A>G						GAS2_ENST00000433790.1_Splice_Site_p.L48_splice|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Splice_Site_p.L48_splice	p.L48_splice	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			2	449	+			48			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37	c.145_splice	CCDS7858.1																																																																																				0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Silent	33	158	0	0	0	1	0	33	158					G	22696559	A	G	22696559	5	3	79	1	0	0	0	0	0	0	1	0	6273	434	15	4	146	4	GAS2	11	22696559	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	315516	22696559	112309957	11902	22219											
GAS2	2620	broad.mit.edu	37	chr11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaacgtgtctatttgaatCggaaggtttgggtatgtatt	12	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(397-399)tCg>tTg		growth arrest-specific 2							143	148	146					11																	22747968		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747968C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.398C>T	11.37:g.22747968C>T	ENSP00000401145:p.Ser133Leu					GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			4	703	+			133			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.398C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131593	0.56828	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;T;D;D;D;D	0.94537	-3.45;-3.45;0.99;-3.45;-3.45;-3.45;-3.45	5.74	4.83	0.62350	Calponin homology domain (5);	0.131423	0.53938	D	0.000051	D	0.97526	0.9190	M	0.91140	3.18	0.58432	D	0.999995	D	0.67145	0.996	P	0.62491	0.903	D	0.98276	1.0506	10	0.72032	D	0.01	-10.6063	16.8958	0.86100	0.0:0.8719:0.1281:0.0	.	133	O43903	GAS2_HUMAN	L	133	ENSP00000432584:S133L;ENSP00000401145:S133L;ENSP00000434478:S133L;ENSP00000278187:S133L;ENSP00000433182:S133L;ENSP00000435946:S133L;ENSP00000396708:S133L	ENSP00000278187:S133L	S	+	2	0	GAS2	22704544	1.000000	0.71417	0.893000	0.35052	0.053000	0.15095	7.818000	0.86416	1.422000	0.47177	-0.172000	0.13284	TCG		0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		84	372	0	0	0	1	0	84	372					T	22747968	C	T	22747968	3	4	79	1	0	0	0	0	1	0	0	0	6273	893	31	1	408	1	GAS2	11	22747968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51409	22747968	112258548	11903	22220											
GAS2	2620	broad.mit.edu	37	chr11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacaagttctgtgtggagCggctctcccaaggaagatac	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	225	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(673-675)Cgg>Tgg		growth arrest-specific 2							81	80	80					11																	22777449		2203	4299	6502	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22777449C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.673C>T	11.37:g.22777449C>T	ENSP00000401145:p.Arg225Trp					GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			7	978	+			225			GAR.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.673C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073711	0.76415	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51071	0.72;0.72;0.72	5.61	1.2	0.21068	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.70595	2.14	0.53688	D	0.999979	D	0.89917	1.0	D	0.75020	0.985	T	0.68401	-0.5418	10	0.87932	D	0	-13.4615	15.0604	0.71947	0.6008:0.3992:0.0:0.0	.	225	O43903	GAS2_HUMAN	W	225	ENSP00000401145:R225W;ENSP00000278187:R225W;ENSP00000396708:R225W	ENSP00000278187:R225W	R	+	1	2	GAS2	22734025	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.064000	0.30579	-0.059000	0.13154	0.655000	0.94253	CGG		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		37	173	0	0	0	1	0	37	173					T	22777449	C	T	22777449	3	4	79	1	0	0	0	0	1	0	0	0	6273	759	27	1	695	1	GAS2	11	22777449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29481	22777449	112229067	11904	22221											
ANO3	63982	broad.mit.edu	37	chr11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaacttcgttaaaacCgtctcggagatccctgcctt	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L|ANO3_ENST00000537978.1_Missense_Mutation_p.P16L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	32					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGTTAAAACCGTCTCGGAGA	0.428																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(94-96)cCg>cTg		anoctamin 3							130	134	133					11																	26463513		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463513C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.95C>T	11.37:g.26463513C>T	ENSP00000256737:p.Pro32Leu					ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	p.P32L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			2	947	+			32					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.95C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439921	0.63067	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.19112	0.55	0.58432	D	0.999996	D	0.52996	0.957	B	0.41440	0.357	T	0.53865	-0.8378	10	0.49607	T	0.09	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	32	Q9BYT9	ANO3_HUMAN	L	16;16;32;32	ENSP00000440737:P16L;ENSP00000432576:P16L;ENSP00000256737:P32L;ENSP00000435275:P32L	ENSP00000256737:P32L	P	+	2	0	ANO3	26420089	0.995000	0.38212	0.981000	0.43875	0.633000	0.38033	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	CCG		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		151	718	0	0	0	1	0	151	718					T	26463513	C	T	26463513	3	4	79	1	0	0	0	0	1	0	0	0	698	652	23	1	101	1	ANO3	11	26463513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3686064	26463513	108543003	11905	22222											
ANO3	63982	broad.mit.edu	37	chr11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaataaaaacgactctgTgctgagatgttcatttgctg	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A|ANO3_ENST00000537978.1_Missense_Mutation_p.V75A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	91					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACGACTCTGTGCTGAGATGT	0.343																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(271-273)gTg>gCg		anoctamin 3							119	116	117					11																	26465342		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26465342T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.272T>C	11.37:g.26465342T>C	ENSP00000256737:p.Val91Ala					ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	p.V91A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			3	1124	+			91					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.272T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204778	0.22205	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	0.836	0.18891	.	1.510040	0.03809	N	0.265637	T	0.40015	0.1100	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.05436	T	0.98	.	1.4041	0.02276	0.1765:0.1035:0.183:0.5369	.	91	Q9BYT9	ANO3_HUMAN	A	75;75;91;91	ENSP00000440737:V75A;ENSP00000432576:V75A;ENSP00000256737:V91A;ENSP00000435275:V91A	ENSP00000256737:V91A	V	+	2	0	ANO3	26421918	0.209000	0.23505	0.021000	0.16686	0.037000	0.13140	0.943000	0.29030	0.024000	0.15214	0.482000	0.46254	GTG		0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		16	75	0	0	0	1	0	16	75					C	26465342	T	C	26465342	3	2	79	1	0	0	0	0	1	0	0	0	698	1696	59	4	282	4	ANO3	11	26465342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1829	26465342	108541174	11906	22223											
ANO3	63982	broad.mit.edu	37	chr11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaatttgtaaagccactGaagtctttatgtgccctctc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	438					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAAGCCACTGAAGTCTTTAT	0.423																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1312-1314)Gaa>Aaa		anoctamin 3							168	173	171					11																	26574818		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26574818G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1312G>A	11.37:g.26574818G>A	ENSP00000256737:p.Glu438Lys					ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K	p.E438K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			13	2164	+			438					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1312G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859210	0.51376	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.41	5.59	4.62	0.57501	.	0.112278	0.64402	D	0.000011	T	0.64907	0.2641	N	0.21508	0.67	0.44030	D	0.99675	B;B	0.32467	0.372;0.372	B;B	0.42959	0.209;0.403	T	0.62201	-0.6904	10	0.29301	T	0.29	.	15.9344	0.79691	0.0:0.1352:0.8648:0.0	.	340;438	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	422;422;438;340;292	ENSP00000440737:E422K;ENSP00000432576:E422K;ENSP00000256737:E438K;ENSP00000432394:E292K	ENSP00000256737:E438K	E	+	1	0	ANO3	26531394	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.229000	0.58625	2.633000	0.89246	0.637000	0.83480	GAA		0.423	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		226	1015	0	0	0	1	0	226	1015					A	26574818	G	A	26574818	3	1	79	1	0	0	0	0	1	0	0	0	698	1291	45	2	1362	2	ANO3	11	26574818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109476	26574818	108431698	11907	22224											
MUC15	143662	broad.mit.edu	37	chr11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttggattgtagtagctaGaattcccaaaactcacatca	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000455601.2	-	4	1014	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	299					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGTAGCTAGAATTCCCAAA	0.383																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(976-978)tCt>tAt		mucin 15, cell surface associated							154	139	144					11																	26582721		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582721G>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.896C>A	11.37:g.26582721G>T	ENSP00000397339:p.Ser299Tyr					MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S299Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron	p.S326Y			Q8N387	MUC15_HUMAN			4	1110	-			299					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.977C>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867333	0.72065	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.28255	1.64;1.62;1.63;1.62;1.63	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000143	T	0.43055	0.1230	L	0.32530	0.975	0.32851	D	0.506659	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.948;0.971	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.9456	12.5049	0.55975	0.0811:0.0:0.9189:0.0	.	276;299;326	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	299;326;276;326;276	ENSP00000397339:S299Y;ENSP00000416753:S326Y;ENSP00000281268:S276Y;ENSP00000431983:S326Y;ENSP00000431945:S276Y	ENSP00000281268:S276Y	S	-	2	0	MUC15	26539297	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.813000	0.55636	2.708000	0.92522	0.591000	0.81541	TCT		0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		52	186	1	0	1.30916e-28	1	1.52443e-28	52	186					T	26582721	G	T	26582721	3	4	79	1	0	0	0	0	1	0	0	0	10013	942	33	3	112	3	MUC15	11	26582721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7903	26582721	108423795	11908	22225											
ANO3	63982	broad.mit.edu	37	chr11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatattttatagccacaGtcttcctggagttttggaaa	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	485					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATAGCCACAGTCTTCCTGGA	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1453-1455)Gtc>Ttc		anoctamin 3							82	84	83					11																	26619917		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619917G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1453G>T	11.37:g.26619917G>T	ENSP00000256737:p.Val485Phe					ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F	p.V485F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2305	+			485					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1453G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723830	0.68959	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.45137	1.4	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.73708	0.981;0.667	T	0.72659	-0.4226	10	0.45353	T	0.12	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	387;485	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	469;469;485;387;339	ENSP00000440737:V469F;ENSP00000432576:V469F;ENSP00000256737:V485F;ENSP00000432394:V339F	ENSP00000256737:V485F	V	+	1	0	ANO3	26576493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GTC		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		74	350	1	0	2.6465e-34	1	3.14731e-34	74	350					T	26619917	G	T	26619917	3	4	79	1	0	0	0	0	1	0	0	0	698	1029	36	3	1511	3	ANO3	11	26619917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37196	26619917	108386599	11909	22226											
ANO3	63982	broad.mit.edu	37	chr11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctatacttgggaccttatcGaatgggaagaagaggaggta	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	505					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGACCTTATCGAATGGGAAGA	0.393																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1513-1515)Gaa>Aaa		anoctamin 3							120	119	119					11																	26619977		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619977G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1513G>A	11.37:g.26619977G>A	ENSP00000256737:p.Glu505Lys					ANO3_ENST00000537978.1_Missense_Mutation_p.E489K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000531568.1_Missense_Mutation_p.E359K	p.E505K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2365	+			505					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1513G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035474	0.75617	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	.	0.046152	0.85682	D	0.000000	T	0.47469	0.1447	N	0.08118	0	0.53005	D	0.999965	B;B	0.20671	0.028;0.047	B;B	0.19391	0.01;0.025	T	0.44065	-0.9352	10	0.59425	D	0.04	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	407;505	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	489;489;505;407;359	ENSP00000440737:E489K;ENSP00000432576:E489K;ENSP00000256737:E505K;ENSP00000432394:E359K	ENSP00000256737:E505K	E	+	1	0	ANO3	26576553	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GAA		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		81	382	0	0	0	1	0	81	382					A	26619977	G	A	26619977	3	1	79	1	0	0	0	0	1	0	0	0	698	1059	37	1	1571	1	ANO3	11	26619977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	26619977	108386539	11910	22227											
ANO3	63982	broad.mit.edu	37	chr11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtttgaagccaagtaTtacaagatggagattgtaaa	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	521					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGCCAAGTATTACAAGATGG	0.393																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1561-1563)taT>taG		anoctamin 3							73	66	68					11																	26620437		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26620437T>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1563T>G	11.37:g.26620437T>G	ENSP00000256737:p.Tyr521*					ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*	p.Y521*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2415	+			521					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.1563T>G	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	39	7.774718	0.98483	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.98	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8325	0.35093	0.0:0.272:0.0:0.728	.	.	.	.	X	505;505;521;423;375	.	ENSP00000256737:Y521X	Y	+	3	2	ANO3	26577013	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.019000	0.30014	0.152000	0.19188	0.533000	0.62120	TAT		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		22	136	0	0	0	1	0	22	136					G	26620437	T	G	26620437	4	3	79	1	0	0	0	0	0	1	0	0	698	1500	52	4	1625	4	ANO3	11	26620437	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	460	26620437	108386079	11911	22228											
ANO3	63982	broad.mit.edu	37	chr11	26620467	26620467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattgtaaatcccatcacGggaaaacctgaaccacatca	7	11	2	2	rs202180594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620467G>A	ENST00000256737.3	+	16	2445	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	ANO3_ENST00000531568.1_Silent_p.T385T|ANO3_ENST00000525139.1_Silent_p.T515T|ANO3_ENST00000537978.1_Silent_p.T515T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	531					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCCATCACGGGAAAACCTG	0.403																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1591-1593)acG>acA		anoctamin 3		G		0,4406		0,0,2203	83	72	76		1593	-5.6	1	11		76	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANO3	NM_031418.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		531/982	26620467	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26620467G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1593G>A	11.37:g.26620467G>A						ANO3_ENST00000537978.1_Silent_p.T515T|ANO3_ENST00000525139.1_Silent_p.T515T|ANO3_ENST00000531568.1_Silent_p.T385T	p.T531T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2445	+			531					B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.1593G>A	CCDS31447.1																																																																																				0.403	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		28	154	0	0	0	1	0	28	154					A	26620467	G	A	26620467	2	1	79	1	0	0	0	0	0	0	0	1	698	1103	39	1		1	ANO3	11	26620467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	26620467	108386049	11912	22229											
ANO3	63982	broad.mit.edu	37	chr11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaattctcgaaggaaTcggtatattggctgtgatca	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000537978.1_Missense_Mutation_p.I803T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	819					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGAAGGAATCGGTATATTG	0.348																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2455-2457)aTc>aCc		anoctamin 3							133	126	129					11																	26669283		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26669283T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2456T>C	11.37:g.26669283T>C	ENSP00000256737:p.Ile819Thr					ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T	p.I819T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			24	3308	+			819					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2456T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742311	0.69418	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.49	5.49	0.81192	.	0.047425	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.986;0.991	D	0.88120	0.2831	10	0.87932	D	0	.	15.2657	0.73660	0.0:0.0:0.0:1.0	.	721;819	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	803;803;819;721;673	ENSP00000440737:I803T;ENSP00000432576:I803T;ENSP00000256737:I819T;ENSP00000432394:I673T	ENSP00000256737:I819T	I	+	2	0	ANO3	26625859	1.000000	0.71417	0.959000	0.39883	0.556000	0.35491	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	ATC		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		66	329	0	0	0	1	0	66	329					C	26669283	T	C	26669283	3	2	79	1	0	0	0	0	1	0	0	0	698	1435	50	4	2550	4	ANO3	11	26669283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48816	26669283	108337233	11913	22230											
BDNF	627	broad.mit.edu	37	chr11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctcttctatcacgtgttCgaaagtgtcagccaatgatg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530313.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	64					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(190-192)Gaa>Aaa		brain-derived neurotrophic factor							198	190	193					11																	27679922		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27679922C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.190G>A	11.37:g.27679922C>T	ENSP00000437138:p.Glu64Lys					BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K	p.E64K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1283	-			64					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.190G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446234	0.63178	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;0.992;0.995	D;D;D;D;D	0.85130	0.997;0.919;0.97;0.935;0.97	T	0.80056	-0.1542	10	0.87932	D	0	-18.7903	20.8598	0.99761	0.0:1.0:0.0:0.0	.	93;146;72;64;79	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	64;64;79;64;64;64;64;64;64;146;64;64;64;64;64;72;64;64	ENSP00000389345:E64K;ENSP00000437138:E64K;ENSP00000379309:E79K;ENSP00000432727:E64K;ENSP00000349084:E64K;ENSP00000400502:E64K;ENSP00000432376:E64K;ENSP00000435564:E64K;ENSP00000379307:E64K;ENSP00000414303:E146K;ENSP00000379304:E64K;ENSP00000435805:E64K;ENSP00000379305:E64K;ENSP00000379302:E64K;ENSP00000432035:E64K;ENSP00000320002:E72K;ENSP00000389564:E64K	ENSP00000320002:E72K	E	-	1	0	BDNF	27636498	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	GAA		0.532	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		137	652	0	0	0	1	0	137	652					T	27679922	C	T	27679922	3	4	79	1	0	0	0	0	1	0	0	0	1395	893	31	1	557	1	BDNF	11	27679922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1010639	27679922	107326594	11914	22231											
METT5D1	196074	broad.mit.edu	37	chr11	28318399	28318399	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggggaggagaagcatgccaaGaaaatcgcttcagcaattgt	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:28318399G>C	ENST00000407364.3	+	6	1051	c.699G>C	c.(697-699)aaG>aaC	p.K233N	METTL15_ENST00000303459.6_Missense_Mutation_p.K233N|METTL15_ENST00000342303.5_Missense_Mutation_p.K233N|METTL15_ENST00000406787.3_Missense_Mutation_p.E219Q			A6NJ78	MET15_HUMAN	methyltransferase like 15	233							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCATGCCAAGAAAATCGCTT	0.498																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(697-699)aaG>aaC		methyltransferase like 15							126	108	114					11																	28318399		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28318399G>C	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.699G>C	11.37:g.28318399G>C	ENSP00000384369:p.Lys233Asn					METTL15_ENST00000407364.3_Missense_Mutation_p.K233N|METTL15_ENST00000303459.6_Missense_Mutation_p.K233N|METTL15_ENST00000406787.3_Missense_Mutation_p.E219Q	p.K233N	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			6	1154	+			233					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.699G>C	CCDS44559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.525169|2.525169	0.44969|0.44969	.|.	.|.	ENSG00000169519|ENSG00000169519	ENST00000406787|ENST00000342303;ENST00000407364;ENST00000303459	T|T;T;T	0.34275|0.38401	1.37|1.14;1.14;1.14	5.43|5.43	3.12|3.12	0.35913|0.35913	.|S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	.|0.450346	.|0.24115	.|N	.|0.041411	T|T	0.56187|0.56187	0.1968|0.1968	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D|D;D	0.63046|0.55800	0.992|0.961;0.973	P|D;P	0.54544|0.65233	0.755|0.933;0.887	T|T	0.54166|0.54166	-0.8334|-0.8334	8|9	.|.	.|.	.|.	.|.	9.3675|9.3675	0.38234|0.38234	0.2054:0.0:0.7946:0.0|0.2054:0.0:0.7946:0.0	.|.	219|233;233	A6NJ78-4|A6NJ78;A6NJ78-2	.|MET15_HUMAN;.	Q|N	219|233	ENSP00000385507:E219Q|ENSP00000342259:K233N;ENSP00000384369:K233N;ENSP00000307251:K233N	.|.	E|K	+|+	1|3	0|2	METTL15|METTL15	28274975|28274975	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	4.413000|4.413000	0.59795|0.59795	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.498	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		76	318	0	0	0	1	0	76	318					C	28318399	G	C	28318399	3	2	79	1	0	0	0	0	1	0	0	0	9533	933	33	5	713	5	METT5D1	11	28318399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	638477	28318399	106688117	11915	22232											
KCNA4	3739	broad.mit.edu	37	chr11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaaaaaatactcattgCgcaaagggtcaaagtactga	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATACTCATTGCGCAAAGGGTC	0.478																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(646-648)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 4							70	65	67					11																	30033579		1862	4106	5968	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033579C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.647G>A	11.37:g.30033579C>T	ENSP00000328511:p.Arg216His						p.R216H	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1880	-			216						Missense_Mutation	SNP	ENST00000328224.6	37	c.647G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	KCNA4	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC		0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		71	282	0	0	0	1	0	71	282					T	30033579	C	T	30033579	3	4	79	1	0	0	0	0	1	0	0	0	8035	768	27	1	1318	1	KCNA4	11	30033579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1715180	30033579	104972937	11916	22233											
KCNA4	3739	broad.mit.edu	37	chr11	30033811	30033811	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcactatagtaaaaccTtccctcctcttcctcctctt	1	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TAGTAAAACCTTCcctcctct	0.552																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(415-417)Agg>Cgg		potassium voltage-gated channel, shaker-related subfamily, member 4							51	51	51					11																	30033811		2193	4294	6487	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033811T>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.415A>C	11.37:g.30033811T>G							p.R139R	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1648	-			139						Silent	SNP	ENST00000328224.6	37	c.415A>C	CCDS41629.1																																																																																				0.552	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		41	217	0	0	0	1	0	41	217					G	30033811	T	G	30033811	2	3	79	1	0	0	0	0	0	0	0	1	8035	1608	56	4		4	KCNA4	11	30033811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	232	30033811	104972705	11917	22234											
KCNA4	3739	broad.mit.edu	37	chr11	30033990	30033990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccgactaccccggCtgctctgagggtcatgggag	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033990C>T	ENST00000328224.6	-	2	1469	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	79					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACTACCCCGGCTGCTCTGAGG	0.652																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(235-237)aGc>aAc		potassium voltage-gated channel, shaker-related subfamily, member 4							42	44	44					11																	30033990		1993	4172	6165	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033990C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.236G>A	11.37:g.30033990C>T	ENSP00000328511:p.Ser79Asn						p.S79N	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1469	-			79						Missense_Mutation	SNP	ENST00000328224.6	37	c.236G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964396	0.53507	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	.	5.024710	0.01841	U	0.035344	D	0.93785	0.8013	N	0.19112	0.55	0.52501	D	0.999956	B	0.15473	0.013	B	0.14023	0.01	T	0.63616	-0.6597	10	0.18276	T	0.48	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	79	P22459	KCNA4_HUMAN	N	79	ENSP00000328511:S79N	ENSP00000328511:S79N	S	-	2	0	KCNA4	29990566	0.994000	0.37717	0.098000	0.21074	0.950000	0.60333	3.249000	0.51437	2.239000	0.73571	0.561000	0.74099	AGC		0.652	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		12	426	0	0	0	1	0	12	426					T	30033990	C	T	30033990	3	4	79	1	0	0	0	0	1	0	0	0	8035	797	28	2	1729	2	KCNA4	11	30033990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	30033990	104972526	11918	22235											
FSHB	2488	broad.mit.edu	37	chr11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaacagtgagagtgcccGgctgtgctcaccatgcagat	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					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.G83S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GAGAGTGCCCGGCTGTGCTCA	0.507																																						ENST00000417547.1																			1	Substitution - Missense(1)	p.G83S(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						c.(247-249)Ggc>Agc		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						111	93	100					11																	30255204		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.chr11:30255204G>A		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.247G>A	11.37:g.30255204G>A	ENSP00000416606:p.Gly83Ser					FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN			3	286	+			83					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.247G>A	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424409	0.96111	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	Cystine knot (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92508	0.6014	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83	P01225	FSHB_HUMAN	S	83	ENSP00000254122:G83S;ENSP00000416606:G83S;ENSP00000433424:G83S	ENSP00000254122:G83S	G	+	1	0	FSHB	30211780	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.947000	0.75959	2.941000	0.99782	0.655000	0.94253	GGC		0.507	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		55	224	0	0	0	1	0	55	224					A	30255204	G	A	30255204	3	1	79	1	0	0	0	0	1	0	0	0	6099	1116	39	1	253	1	FSHB	11	30255204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221214	30255204	104751312	11919	22236											
DCDC1	341019	broad.mit.edu	37	chr11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgaggtcctctcagtaAgtttcttcattctaatagaa	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000452803.1	-	7	1067	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000597505.1_Missense_Mutation_p.L289R	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	289					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTCAGTAAGTTTCTTCAT	0.378																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(865-867)cTt>cGt		doublecortin domain containing 1							84	85	85					11																	31312288		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312288A>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.866T>G	11.37:g.31312288A>C	ENSP00000389792:p.Leu289Arg					DCDC1_ENST00000452803.1_Missense_Mutation_p.L289R	p.L289R			P59894	DCDC1_HUMAN			5	865	-	Lung SC(675;0.225)		289					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.866T>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436480	0.62955	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.26	4.06	0.47325	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.94095	0.8107	M	0.72894	2.215	0.27403	N	0.954804	D	0.59357	0.985	P	0.53760	0.734	D	0.89469	0.3742	10	0.87932	D	0	-21.493	10.7159	0.46013	0.8585:0.0:0.0:0.1415	.	289	P59894	DCDC1_HUMAN	R	289	ENSP00000389792:L289R	ENSP00000389792:L289R	L	-	2	0	DCDC1	31268864	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.673000	0.46858	2.105000	0.64084	0.533000	0.62120	CTT		0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		26	298	0	0	0	1	0	26	298					C	31312288	A	C	31312288	3	2	79	1	0	0	0	0	1	0	0	0	4295	72	3	4	210	4	DCDC1	11	31312288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1057084	31312288	103694228	11920	22237											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa					rs200015827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31812317delG	ENST00000379132.3	-	11	1404	c.1124delC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000419022.1_Frame_Shift_Del_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)cafs		paired box 6							114	100	105					11																	31812317		2202	4299	6501	SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812317delG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1124delC	11.37:g.31812317delG	ENSP00000368427:p.Pro375fs					PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			13	1634	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Del	DEL	ENST00000379132.3	37	c.1166delC	CCDS31451.1																																																																																				0.587	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		9	377						9	377	---	---	---	---	-	31812317	G	-	31812317	7	5	79	1	0	1	0	1	0	0	0	0	11525	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	500029	31812317	103194199	11921	22238											
CCDC73	493860	broad.mit.edu	37	chr11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattatttaacaatgtatgCtgtctttcattaatgctcac	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	836										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACAATGTATGCTGTCTTTCAT	0.328																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2506-2508)caG>caT		coiled-coil domain containing 73							142	128	132					11																	32635356		1830	4087	5917	SO:0001583	missense	493860							g.chr11:32635356C>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2508G>T	11.37:g.32635356C>A	ENSP00000335325:p.Gln836His						p.Q836H	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2551	-	Breast(20;0.112)		836					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2508G>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569548	0.45798	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	1.16	0.20824	.	0.698226	0.13701	N	0.368828	T	0.32376	0.0827	L	0.59436	1.845	0.09310	N	1	B	0.25743	0.133	B	0.21917	0.037	T	0.39313	-0.9620	9	0.72032	D	0.01	.	1.192	0.01867	0.179:0.424:0.1191:0.278	.	836	Q6ZRK6	CCD73_HUMAN	H	836	.	ENSP00000335325:Q836H	Q	-	3	2	CCDC73	32591932	0.765000	0.28485	0.111000	0.21465	0.987000	0.75469	0.274000	0.18680	-0.055000	0.13244	0.650000	0.86243	CAG		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		111	524	1	0	2.38877e-60	1	3.0041e-60	111	524					A	32635356	C	A	32635356	3	1	79	1	0	0	0	0	1	0	0	0	2853	796	28	3	743	3	CCDC73	11	32635356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	823039	32635356	102371160	11922	22239											
CCDC73	493860	broad.mit.edu	37	chr11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaagaggtcattttTtgtggcttcagttacctgat	10	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	823										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTCATTTTTTGTGGCTTCA	0.323																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2467-2469)Aaa>Caa		coiled-coil domain containing 73							130	114	119					11																	32635397		1818	4085	5903	SO:0001583	missense	493860							g.chr11:32635397T>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2467A>C	11.37:g.32635397T>G	ENSP00000335325:p.Lys823Gln						p.K823Q	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2510	-	Breast(20;0.112)		823					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2467A>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578306	0.45902	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	3.16	0.36331	.	0.549721	0.17406	N	0.175351	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.09684	-1.0663	9	0.45353	T	0.12	.	7.0619	0.25131	0.0:0.0767:0.1469:0.7764	.	823	Q6ZRK6	CCD73_HUMAN	Q	823	.	ENSP00000335325:K823Q	K	-	1	0	CCDC73	32591973	0.380000	0.25131	0.064000	0.19789	0.885000	0.51271	1.191000	0.32138	0.918000	0.36919	0.528000	0.53228	AAA		0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		99	453	0	0	0	1	0	99	453					G	32635397	T	G	32635397	3	3	79	1	0	0	0	0	1	0	0	0	2853	1850	64	4	784	4	CCDC73	11	32635397	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41	32635397	102371119	11923	22240											
QSER1	79832	broad.mit.edu	37	chr11	32955888	32955888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattagatgtcaggcatgtGacttcagattttaactctat	7	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(2695-2697)gtG>gtA		glutamine and serine rich 1							77	71	73					11																	32955888		1875	4119	5994	SO:0001819	synonymous_variant	79832							g.chr11:32955888G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2697G>A	11.37:g.32955888G>A						QSER1_ENST00000527788.1_Silent_p.V660V	p.V899V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3032	+	Breast(20;0.158)		899					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.2697G>A	CCDS41631.1																																																																																				0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		61	285	0	0	0	1	0	61	285					A	32955888	G	A	32955888	2	1	79	1	0	0	0	0	0	0	0	1	12932	1277	45	2		2	QSER1	11	32955888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320491	32955888	102050628	11924	22241											
QSER1	79832	broad.mit.edu	37	chr11	32956758	32956758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggttcgtacattttgtccCccaccacttcccaagccttc	5	16	0	0	rs375123573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1189										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTTTGTCCCCCACCACTTC	0.473																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3565-3567)ccC>ccA		glutamine and serine rich 1							106	108	107					11																	32956758		1911	4108	6019	SO:0001819	synonymous_variant	79832							g.chr11:32956758C>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3567C>A	11.37:g.32956758C>A						QSER1_ENST00000527788.1_Silent_p.P950P	p.P1189P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3902	+	Breast(20;0.158)		1189					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.3567C>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495042	0.01009	.	.	ENSG00000060749	ENST00000524678	T	0.37752	1.18	5.31	2.36	0.29203	.	0.177489	0.38548	N	0.001651	T	0.32376	0.0827	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	T	0.08973	-1.0696	7	0.37606	T	0.19	.	2.5447	0.04734	0.3181:0.4219:0.1144:0.1456	.	.	.	.	H	210	ENSP00000432136:P210H	ENSP00000432136:P210H	P	+	2	0	QSER1	32913334	0.087000	0.21565	0.998000	0.56505	0.227000	0.25037	-0.313000	0.08103	0.605000	0.29947	-0.373000	0.07131	CCC		0.473	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		103	410	1	0	2.14712e-25	1	2.46361e-25	103	410					A	32956758	C	A	32956758	2	1	79	1	0	0	0	0	0	0	0	1	12932	610	22	3		3	QSER1	11	32956758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	870	32956758	102049758	11925	22242											
QSER1	79832	broad.mit.edu	37	chr11	32979504	32979504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagccccttccgtgaaacCcaaagttaaacagccaaaag	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32979504C>A	ENST00000399302.2	+	8	4789	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1485										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCGTGAAACCCAAAGTTAAA	0.403																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4453-4455)cCc>cAc		glutamine and serine rich 1							69	64	65					11																	32979504		1835	4090	5925	SO:0001583	missense	79832							g.chr11:32979504C>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4454C>A	11.37:g.32979504C>A	ENSP00000382241:p.Pro1485His					QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	p.P1485H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			8	4789	+	Breast(20;0.158)		1485					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4454C>A	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497872|4.497872	0.85069|0.85069	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.33865|0.39787	1.72;1.39|1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.090600|0.090600	0.47455|0.47455	D|D	0.000238|0.000238	T|T	0.60038|0.60038	0.2238|0.2238	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.74348|.	0.983;0.971;0.936|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|8	0.87932|0.56958	D|D	0|0.05	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1246;1246;1485|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|T	1485;1246;1246|506	ENSP00000382241:P1485H;ENSP00000432766:P1246H|ENSP00000432136:P506T	ENSP00000078652:P1246H|ENSP00000432136:P506T	P|P	+|+	2|1	0|0	QSER1|QSER1	32936080|32936080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	6.838000|6.838000	0.75359|0.75359	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.403	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		8	301	1	0	0.000157383	1	0.000159814	8	301					A	32979504	C	A	32979504	3	1	79	1	0	0	0	0	1	0	0	0	12932	623	22	3	4476	3	QSER1	11	32979504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22746	32979504	102027012	11926	22243											
QSER1	79832	broad.mit.edu	37	chr11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactcgctttttgaacaCaagagcaatgaaggaaacct	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1542										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTTGAACACAAGAGCAATG	0.408																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4624-4626)aCa>aTa		glutamine and serine rich 1							124	117	119					11																	32987888		1839	4086	5925	SO:0001583	missense	79832							g.chr11:32987888C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4625C>T	11.37:g.32987888C>T	ENSP00000382241:p.Thr1542Ile					QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	p.T1542I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			9	4960	+	Breast(20;0.158)		1542					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4625C>T	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.001792|5.001792	0.93227|0.93227	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.50001	.|0.76;0.76	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.68586	.|0.3017	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.997;0.999	.|T	.|0.70230	.|-0.4929	.|10	.|0.87932	.|D	.|0	.|.	19.6126|19.6126	0.95616|0.95616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1303;1303;1542	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	X|I	563|1542;1303;1303	.|ENSP00000382241:T1542I;ENSP00000432766:T1303I	.|ENSP00000078652:T1303I	Q|T	+|+	1|2	0|0	QSER1|QSER1	32944464|32944464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.980000|6.980000	0.76160|0.76160	2.630000|2.630000	0.89119|0.89119	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		86	412	0	0	0	1	0	86	412					T	32987888	C	T	32987888	3	4	79	1	0	0	0	0	1	0	0	0	12932	478	17	2	4651	2	QSER1	11	32987888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	32987888	102018628	11927	22244											
CSTF3	1479	broad.mit.edu	37	chr11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatgtctccatatttTtttagccccagctcaaaaat	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	438					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1312-1314)aaA>aaC		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							62	69	66					11																	33117913		2202	4296	6498	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117913T>G	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1314A>C	11.37:g.33117913T>G	ENSP00000315791:p.Lys438Asn					TCP11L1_ENST00000324357.9_Intron	p.K438N	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			15	1453	-			438					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1314A>C	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543059	0.65198	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.91	3.7	0.42460	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.90082	3.085	0.80722	D	1	P	0.51449	0.945	P	0.58331	0.837	T	0.69873	-0.5027	10	0.59425	D	0.04	.	12.8672	0.57946	0.0:0.7925:0.0:0.2075	.	438	Q12996	CSTF3_HUMAN	N	438;371	ENSP00000315791:K438N	ENSP00000315791:K438N	K	-	3	2	CSTF3	33074489	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.501000	0.35693	1.478000	0.48253	-0.467000	0.05162	AAA		0.328	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		74	302	0	0	0	1	0	74	302					G	33117913	T	G	33117913	3	3	79	1	0	0	0	0	1	0	0	0	3997	1838	64	4	867	4	CSTF3	11	33117913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130025	33117913	101888603	11928	22245											
CSTF3	1479	broad.mit.edu	37	chr11	33123884	33123884	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattactgtctcatatTcctagacaacaaggatttag	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	222					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.e10-1		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							75	69	71					11																	33123884		2202	4298	6500	SO:0001630	splice_region_variant	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33123884T>G	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.664-1A>C	11.37:g.33123884T>G						TCP11L1_ENST00000324357.9_Intron	p.E222_splice	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			10	804	-			222					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Splice_Site	SNP	ENST00000323959.4	37	c.663_splice	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779812	0.70222	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.56199	1.76	0.80722	D	1	B	0.20780	0.048	B	0.26202	0.067	T	0.13255	-1.0516	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	222	Q12996	CSTF3_HUMAN	A	222;155	ENSP00000315791:E222A	ENSP00000315791:E222A	E	-	2	0	CSTF3	33080460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAA		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	Missense_Mutation	68	172	0	0	0	1	0	68	172					G	33123884	T	G	33123884	5	3	79	1	0	0	0	0	0	0	1	0	3997	1797	62	4	1536	4	CSTF3	11	33123884	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5971	33123884	101882632	11929	22246											
HIPK3	10114	broad.mit.edu	37	chr11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccattaataaaaggacGatctgcccctggaagattaa	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3073-3075)cGa>cAa		homeodomain interacting protein kinase 3							129	131	130					11																	33373714		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373714G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3074G>A	11.37:g.33373714G>A	ENSP00000304226:p.Arg1025Gln					HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	p.R1025Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			16	3379	+			1025					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3074G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA		0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		183	784	0	0	0	1	0	183	784					A	33373714	G	A	33373714	3	1	79	1	0	0	0	0	1	0	0	0	7148	1058	37	1	3132	1	HIPK3	11	33373714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249830	33373714	101632802	11930	22247											
C11orf41	25758	broad.mit.edu	37	chr11	33564355	33564355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaacagcgacccatgagGctgagcctccacttttccag	9	14	0	3	rs374902827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33564355G>A	ENST00000321505.4	+	1	535	c.355G>A	c.(355-357)Gct>Act	p.A119T	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A119T|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A119T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	119						integral component of membrane (GO:0016021)											GACCCATGAGGCTGAGCCTCC	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(355-357)Gct>Act		KIAA1549-like							36	38	37					11																	33564355		1906	4111	6017	SO:0001583	missense	25758							g.chr11:33564355G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.355G>A	11.37:g.33564355G>A	ENSP00000315295:p.Ala119Thr		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A119T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A119T	p.A119T							1	535	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.355G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401602	0.62288	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.4	4.47	0.54385	.	.	.	.	.	T	0.30135	0.0755	N	0.19112	0.55	0.09310	N	1	P;P	0.50156	0.689;0.932	B;P	0.48454	0.186;0.578	T	0.06607	-1.0817	8	0.23302	T	0.38	-2.2273	11.4266	0.50014	0.0:0.0:0.8195:0.1805	.	119;119	E9PAT2;Q6ZVL6-2	.;.	T	119	.	ENSP00000265654:A119T	A	+	1	0	C11orf41	33520931	0.238000	0.23825	0.025000	0.17156	0.780000	0.44128	1.243000	0.32767	1.243000	0.43853	0.561000	0.74099	GCT		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		39	160	0	0	0	1	0	39	160					A	33564355	G	A	33564355	3	1	79	1	0	0	0	0	1	0	0	0	1645	1203	42	2	357	2	C11orf41	11	33564355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190641	33564355	101442161	11931	22248											
C11orf41	25758	broad.mit.edu	37	chr11	33572673	33572673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttgcctgctgtggtgatcGaaatgctgggtgtgtatgga	15	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33572673G>A	ENST00000321505.4	+	4	2878	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E906K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E906K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	900						integral component of membrane (GO:0016021)											TGTGGTGATCGAAATGCTGGG	0.463																																						ENST00000321505.4																			0											c.(2698-2700)Gaa>Aaa		KIAA1549-like							210	211	210					11																	33572673		2165	4265	6430	SO:0001583	missense	25758							g.chr11:33572673G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2698G>A	11.37:g.33572673G>A	ENSP00000315295:p.Glu900Lys					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E906K|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E906K	p.E900K							4	2878	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2698G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222933	0.58668	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	6.17	6.17	0.99709	.	0.421117	0.29273	N	0.012636	T	0.59335	0.2186	L	0.27053	0.805	0.39925	D	0.974203	D;D	0.61080	0.957;0.989	B;P	0.52758	0.225;0.708	T	0.61043	-0.7142	9	0.54805	T	0.06	-4.4623	18.6524	0.91435	0.0:0.0:1.0:0.0	.	906;906	E9PAT2;Q6ZVL6-2	.;.	K	900;906;906;739	.	ENSP00000265654:E906K	E	+	1	0	C11orf41	33529249	1.000000	0.71417	0.110000	0.21437	0.185000	0.23345	7.224000	0.78042	2.941000	0.99782	0.655000	0.94253	GAA		0.463	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		240	431	0	0	0	1	0	240	431					A	33572673	G	A	33572673	3	1	79	1	0	0	0	0	1	0	0	0	1645	1059	37	1	2730	1	C11orf41	11	33572673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8318	33572673	101433843	11932	22249											
C11orf41	25758	broad.mit.edu	37	chr11	33612912	33612912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcctcaggaaagagacGtcgctcaggatggaagcacc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33612912G>A	ENST00000321505.4	+	11	3985	c.3805G>A	c.(3805-3807)Gtc>Atc	p.V1269I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1275I|KIAA1549L_ENST00000265654.5_Intron			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1269						integral component of membrane (GO:0016021)											GGAAAGAGACGTCGCTCAGGA	0.557																																						ENST00000321505.4																			0											c.(3805-3807)Gtc>Atc		KIAA1549-like							74	76	75					11																	33612912		2020	4171	6191	SO:0001583	missense	25758							g.chr11:33612912G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3805G>A	11.37:g.33612912G>A	ENSP00000315295:p.Val1269Ile					KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1275I	p.V1269I							11	3985	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3805G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064327	0.20067	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.6	-7.58	0.01313	.	1.331440	0.04385	N	0.361474	T	0.24314	0.0589	N	0.15975	0.35	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.21211	-1.0252	9	0.30854	T	0.27	-0.0386	12.2063	0.54355	0.7122:0.085:0.2028:0.0	.	1275	E9PAT2	.	I	1269;1275;1108	.	ENSP00000315295:V1269I	V	+	1	0	C11orf41	33569488	0.000000	0.05858	0.000000	0.03702	0.755000	0.42902	0.341000	0.19909	-1.089000	0.03073	-0.367000	0.07326	GTC		0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		30	291	0	0	0	1	0	30	291					A	33612912	G	A	33612912	3	1	79	1	0	0	0	0	1	0	0	0	1645	1145	40	1	3865	1	C11orf41	11	33612912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40239	33612912	101393604	11933	22250											
C11orf41	25758	broad.mit.edu	37	chr11	33689517	33689517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagccagccagccaacctGcaccccagcctggagcaggc	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33689517G>A	ENST00000321505.4	+	20	5547	c.5367G>A	c.(5365-5367)ctG>ctA	p.L1789L	KIAA1549L_ENST00000389726.3_Silent_p.L1795L|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1789						integral component of membrane (GO:0016021)											CAGCCAACCTGCACCCCAGCC	0.672																																						ENST00000321505.4																			0											c.(5365-5367)ctG>ctA		KIAA1549-like							27	34	32					11																	33689517		2028	4182	6210	SO:0001819	synonymous_variant	25758							g.chr11:33689517G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5367G>A	11.37:g.33689517G>A						RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Silent_p.L1795L	p.L1789L							20	5547	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.5367G>A	CCDS44565.2																																																																																				0.672	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		47	169	0	0	0	1	0	47	169					A	33689517	G	A	33689517	2	1	79	1	0	0	0	0	0	0	0	1	1645	1306	46	2		2	C11orf41	11	33689517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76605	33689517	101316999	11934	22251											
CD59	966	broad.mit.edu	37	chr11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagttgtagcactgcaggCtatgacctagaatcaggaag	12	8	1	2	rs547970318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000395850.3	-	3	149	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	25					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473																																						ENST00000395850.3																			0				endometrium(1)|lung(2)	3						c.(73-75)aGc>aTc		CD59 molecule, complement regulatory protein							94	83	86					11																	33739011		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33739011C>A		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"CD molecules", "Complement system"	1689	protein-coding gene	gene with protein product		107271	"CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)", "CD59 antigen, complement regulatory protein"	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.74G>T	11.37:g.33739011C>A	ENSP00000379191:p.Ser25Ile					CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I	p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN			3	149	-			25						Missense_Mutation	SNP	ENST00000395850.3	37	c.74G>T	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259715	0.59321	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;D	0.94650	-3.41;-3.48;-1.61	3.99	2.04	0.26737	.	0.707573	0.14322	N	0.326929	D	0.95909	0.8668	M	0.78049	2.395	0.09310	N	1	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.832	D	0.89626	0.3852	10	0.87932	D	0	-1.362	10.224	0.43214	0.0:0.6059:0.3941:0.0	.	25;25	E9PI80;P13987	.;CD59_HUMAN	I	25	ENSP00000432362:S25I;ENSP00000437122:S25I;ENSP00000436737:S25I	ENSP00000340210:S25I	S	-	2	0	CD59	33695587	0.008000	0.16893	0.053000	0.19242	0.344000	0.29017	0.941000	0.29005	0.603000	0.29913	0.561000	0.74099	AGC		0.473	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		15	100	1	0	1.99824e-07	1	2.07512e-07	15	100					A	33739011	C	A	33739011	3	1	79	1	0	0	0	0	1	0	0	0	3035	797	28	3	320	3	CD59	11	33739011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49494	33739011	101267505	11935	22252											
NAT10	55226	broad.mit.edu	37	chr11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctatgacctgaagcggCtggagatgtattcacggaat	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	825	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTGAAGCGGCTGGAGATGTA	0.572																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2473-2475)Ctg>Atg		N-acetyltransferase 10 (GCN5-related)							122	103	109					11																	34162000		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34162000C>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2473C>A	11.37:g.34162000C>A	ENSP00000257829:p.Leu825Met					NAT10_ENST00000531159.2_Missense_Mutation_p.L753M|NAT10_ENST00000527971.1_Intron	p.L825M	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			24	2679	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	825			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2473C>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.60171	0.21;0.22	5.16	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76526	-0.2927	10	0.66056	D	0.02	-13.7691	9.1058	0.36696	0.0:0.71:0.0:0.29	.	825	Q9H0A0	NAT10_HUMAN	M	825;753	ENSP00000257829:L825M;ENSP00000433011:L753M	ENSP00000257829:L825M	L	+	1	2	NAT10	34118576	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	1.525000	0.35953	1.292000	0.44672	0.467000	0.42956	CTG		0.572	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		104	462	1	0	2.14978e-47	1	2.64632e-47	104	462					A	34162000	C	A	34162000	3	1	79	1	0	0	0	0	1	0	0	0	10215	796	28	3	2563	3	NAT10	11	34162000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422989	34162000	100844516	11936	22253											
ABTB2	25841	broad.mit.edu	37	chr11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgggactgctgccataGcagtgggtgaagatggtagc	18	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	814					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2440-2442)tgC>tgA		ankyrin repeat and BTB (POZ) domain containing 2							90	88	88					11																	34181856		2202	4298	6500	SO:0001587	stop_gained	25841						DNA binding	g.chr11:34181856G>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2442C>A	11.37:g.34181856G>T	ENSP00000410157:p.Cys814*					ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	p.C814*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			12	2866	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	628					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	c.2442C>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	43	10.293582	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6005	18.4941	0.90858	0.0:0.0:1.0:0.0	.	.	.	.	X	814;628	.	ENSP00000298992:C628X	C	-	3	2	ABTB2	34138432	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.740000	0.62087	2.370000	0.80446	0.561000	0.74099	TGC		0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		43	190	1	0	2.24893e-16	1	2.47056e-16	43	190					T	34181856	G	T	34181856	4	4	79	1	0	0	0	0	0	1	0	0	103	963	34	3	659	3	ABTB2	11	34181856	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19856	34181856	100824660	11937	22254											
ABTB2	25841	broad.mit.edu	37	chr11	34194836	34194836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccactccatgaggggCggcagcagcatgaagggcct	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	421					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)ccG>ccA		ankyrin repeat and BTB (POZ) domain containing 2							14	14	14					11																	34194836		2197	4297	6494	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34194836C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1263G>A	11.37:g.34194836C>T						ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	p.P421P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			4	1687	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	235					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1263G>A	CCDS7890.2																																																																																				0.706	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		7	76	0	0	0	1	0	7	76					T	34194836	C	T	34194836	2	4	79	1	0	0	0	0	0	0	0	1	103	755	27	1		1	ABTB2	11	34194836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12980	34194836	100811680	11938	22255											
CAT	847	broad.mit.edu	37	chr11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagggccgcctttttGcctatcctgacactcaccgc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	357					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(1069-1071)Gcc>Acc		catalase	Fomepizole(DB01213)						140	136	137					11																	34482810		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34482810G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1069G>A	11.37:g.34482810G>A	ENSP00000241052:p.Ala357Thr						p.A357T	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	9	1158	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	357					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1069G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785119	0.49997	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	4.98	-2.58	0.06228	Catalase domain (1);Catalase, N-terminal (2);	0.178585	0.49916	D	0.000137	D	0.94162	0.8127	M	0.87682	2.9	0.41829	D	0.990061	P	0.37914	0.611	B	0.41860	0.368	D	0.92138	0.5718	10	0.72032	D	0.01	-9.7713	18.9336	0.92576	0.0:0.0:0.2394:0.7606	.	357	P04040	CATA_HUMAN	T	357	ENSP00000241052:A357T	ENSP00000241052:A357T	A	+	1	0	CAT	34439386	0.983000	0.35010	0.977000	0.42913	0.951000	0.60555	0.504000	0.22626	-0.437000	0.07243	-1.404000	0.01136	GCC		0.473	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		115	567	0	0	0	1	0	115	567					A	34482810	G	A	34482810	3	1	79	1	0	0	0	0	1	0	0	0	2693	1319	46	2	1103	2	CAT	11	34482810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287974	34482810	100523706	11939	22256											
CD44	960	broad.mit.edu	37	chr11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattacaacagctttgatgaGcactagtgctacagcaactg	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000428726.2	+	6	800	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_ENST00000433892.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	226	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GCTTTGATGAGCACTAGTGCT	0.373																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(676-678)aGc>aTc		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						100	87	91					11																	35218302		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35218302G>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.677G>T	11.37:g.35218302G>T	ENSP00000398632:p.Ser226Ile					CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000360158.4_Intron	p.S226I	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	800	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	226			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.677G>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.953|6.953	0.545717|0.545717	0.13312|0.13312	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.53|4.53	1.29|1.29	0.21616|0.21616	.|.	.|0.314365	.|0.23530	.|N	.|0.047198	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.40543|0.40543	1.245|1.245	0.51233|0.51233	D|D	0.999912|0.999912	.|B	.|0.14012	.|0.009	.|B	.|0.15870	.|0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.54805	.|T	.|0.06	-21.6781|-21.6781	6.578|6.578	0.22577|0.22577	0.0:0.1787:0.4537:0.3676|0.0:0.1787:0.4537:0.3676	.|.	.|226	.|P16070	.|CD44_HUMAN	S|I	94|226	.|ENSP00000414567:S226I;ENSP00000391008:S226I;ENSP00000403990:S226I;ENSP00000398632:S226I	.|ENSP00000398632:S226I	A|S	+|+	1|2	0|0	CD44|CD44	35174878|35174878	0.395000|0.395000	0.25254|0.25254	0.685000|0.685000	0.30070|0.30070	0.171000|0.171000	0.22731|0.22731	0.440000|0.440000	0.21592|0.21592	0.311000|0.311000	0.23014|0.23014	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.373	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		30	127	1	0	1.06801e-11	1	1.14091e-11	30	127					T	35218302	G	T	35218302	3	4	79	1	0	0	0	0	1	0	0	0	3026	971	34	3	699	3	CD44	11	35218302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735492	35218302	99788214	11940	22257											
CD44	960	broad.mit.edu	37	chr11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagcaagtctcaggaAatggtgcatttggtgaacaa	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000428726.2	+	18	2247	c.2124A>T	c.(2122-2124)gaA>gaT	p.E708D	CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	708					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGTCTCAGGAAATGGTGCATT	0.498																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(979-981)gaA>gaT		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						182	170	174					11																	35250775		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35250775A>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.2124A>T	11.37:g.35250775A>T	ENSP00000398632:p.Glu708Asp					CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000428726.2_Missense_Mutation_p.E708D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D	p.E327D	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1415	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	708			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.981A>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989376|3.989376	0.74589|0.74589	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000278385;ENST00000525469|ENST00000278386	T;T;T;T;T;T;T;T;T;T;T;T|T	0.56275|0.53423	1.47;1.41;1.64;1.37;1.88;1.54;1.46;1.21;1.02;1.6;0.82;0.47|0.62	5.93|5.93	0.878|0.878	0.19150|0.19150	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56804|0.56804	0.2010|0.2010	M|M	0.80847|0.80847	2.515|2.515	0.27384|0.27384	N|N	0.955334|0.955334	D;D;D;B;D;D|P	0.89917|0.51791	1.0;0.998;0.996;0.013;1.0;0.994|0.948	D;D;D;B;D;D|P	0.85130|0.50659	0.997;0.997;0.995;0.018;0.996;0.97|0.647	T|T	0.52533|0.52533	-0.8563|-0.8563	10|9	0.87932|0.87932	D|D	0|0	-13.3682|-13.3682	8.8766|8.8766	0.35350|0.35350	0.5752:0.0:0.4248:0.0|0.5752:0.0:0.4248:0.0	.|.	306;395;327;459;665;708|121	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|O95370	.;.;.;.;.;CD44_HUMAN|.	D|Y	327;665;680;665;640;362;708;459;395;306;151;256;227;48|121	ENSP00000263398:E327D;ENSP00000389830:E665D;ENSP00000414567:E680D;ENSP00000391008:E665D;ENSP00000403990:E640D;ENSP00000353280:E362D;ENSP00000398632:E708D;ENSP00000392331:E459D;ENSP00000404447:E395D;ENSP00000309732:E306D;ENSP00000279452:E256D;ENSP00000278385:E227D|ENSP00000278386:N121Y	ENSP00000263398:E327D|ENSP00000278386:N121Y	E|N	+|+	3|1	2|0	CD44|CD44	35207351|35207351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.898000|1.898000	0.39809|0.39809	0.235000|0.235000	0.21160|0.21160	-0.250000|-0.250000	0.11733|0.11733	GAA|AAT		0.498	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		107	485	0	0	0	1	0	107	485					T	35250775	A	T	35250775	3	4	79	1	0	0	0	0	1	0	0	0	3026	14	1	5	2194	5	CD44	11	35250775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32473	35250775	99755741	11941	22258											
SLC1A2	6506	broad.mit.edu	37	chr11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtacctaccaaacaccGtcagggtgagcagcagattc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	50				T -> Q (in Ref. 2; AAA18900). {ECO:0000305}.	adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ACCAAACACCGTCAGGGTGAG	0.622																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(148-150)aCg>aTg		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						86	84	85					11																	35338932		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35338932G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.149C>T	11.37:g.35338932G>A	ENSP00000278379:p.Thr50Met					SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M	p.T50M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	431	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	50	T -> Q (in Ref. 2; AAA18900).				B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.149C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863853	0.71949	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.94	4.94	0.65067	.	0.146157	0.64402	D	0.000009	T	0.78181	0.4243	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.981;1.0	T	0.82026	-0.0661	10	0.87932	D	0	-16.1262	18.1904	0.89805	0.0:0.0:1.0:0.0	.	50;50	B4DQE9;P43004	.;EAA2_HUMAN	M	50;41;41;46	ENSP00000278379:T50M;ENSP00000379099:T41M;ENSP00000379102:T41M;ENSP00000406133:T46M	ENSP00000278379:T50M	T	-	2	0	SLC1A2	35295508	1.000000	0.71417	0.941000	0.38009	0.422000	0.31414	9.750000	0.98875	2.286000	0.76751	0.561000	0.74099	ACG		0.622	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		51	267	0	0	0	1	0	51	267					A	35338932	G	A	35338932	3	1	79	1	0	0	0	0	1	0	0	0	14482	1145	40	1	1615	1	SLC1A2	11	35338932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88157	35338932	99667584	11942	22259											
PAMR1	25891	broad.mit.edu	37	chr11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgactgaacctgcatcggaaGaactctccttctcaccaggt	8	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Ctt>Att		peptidase domain containing associated with muscle regeneration 1							165	158	160					11																	35461197		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35461197G>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1078C>A	11.37:g.35461197G>T	ENSP00000368158:p.Leu360Ile					PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I	p.L360I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			8	1523	-			360					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1078C>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463058	0.84425	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88896	-2.3;-2.34;-2.44;-2.31;-2.27	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.87578	0.998;0.991;0.996	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	I	377;360;249;320;337	ENSP00000278360:L377I;ENSP00000368158:L360I;ENSP00000368156:L249I;ENSP00000433868:L320I;ENSP00000432591:L337I	ENSP00000278360:L377I	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT		0.453	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		86	399	1	0	8.78217e-53	1	1.09303e-52	86	399					T	35461197	G	T	35461197	3	4	79	1	0	0	0	0	1	0	0	0	11455	942	33	3	1100	3	PAMR1	11	35461197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122265	35461197	99545319	11943	22260											
LDLRAD3	143458	broad.mit.edu	37	chr11	36248778	36248778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcaccaccagcggaagCggaacaacctcatgacgctg	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36248778C>T	ENST00000315571.5	+	5	619	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	200					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGCGGAAGCGGAACAACCT	0.617																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(598-600)Cgg>Tgg		low density lipoprotein receptor class A domain containing 3							78	70	73					11																	36248778		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36248778C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.598C>T	11.37:g.36248778C>T	ENSP00000318607:p.Arg200Trp					LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000529759.1_3'UTR	p.R200W	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			5	619	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	200					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.598C>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218315	0.79464	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.95690	-3.78;-3.77;-3.6	5.07	1.95	0.26073	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.36672	1.1	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.99	D	0.94432	0.7650	10	0.49607	T	0.09	.	13.9673	0.64216	0.4149:0.5851:0.0:0.0	.	190;151;200	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	W	151;190;200	ENSP00000433954:R151W;ENSP00000434313:R190W;ENSP00000318607:R200W	ENSP00000318607:R200W	R	+	1	2	LDLRAD3	36205354	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.100000	0.41777	0.489000	0.27749	0.655000	0.94253	CGG		0.617	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		18	448	0	0	0	1	0	18	448					T	36248778	C	T	36248778	3	4	79	1	0	0	0	0	1	0	0	0	8738	759	27	1	616	1	LDLRAD3	11	36248778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787581	36248778	98757738	11944	22261											
PRR5L	79899	broad.mit.edu	37	chr11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcaggctctgcagctgaGctccagctcagcctggaaca	12	14	2	1	rs376716246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000378867.3	+	3	498	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	48					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(142-144)aGc>aAc		proline rich 5 like		G	ASN/SER,,ASN/SER,ASN/SER	0,4402		0,0,2201	27	26	26		143,,143,143	5.2	1	11		26	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense,missense	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	46,,46,46	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,,benign,benign	48/369,,48/206,48/369	36422814	1,12997	2201	4298	6499	SO:0001583	missense	79899							g.chr11:36422814G>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.143G>A	11.37:g.36422814G>A	ENSP00000368144:p.Ser48Asn					PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N	p.S48N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			3	498	+			48					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.143G>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015551	0.54468	0.0	1.16E-4	ENSG00000135362	ENST00000530639;ENST00000532121;ENST00000526728;ENST00000311599;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.64991	1.52;1.52;1.52;1.76;1.52;-0.13;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.163476	0.56097	D	0.000033	T	0.46288	0.1385	L	0.27053	0.805	0.43255	D	0.995181	B;B	0.15473	0.003;0.013	B;B	0.15052	0.012;0.01	T	0.36553	-0.9743	10	0.14252	T	0.57	-18.1743	12.2157	0.54404	0.0774:0.0:0.9226:0.0	.	48;48	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	N	48;48;48;22;48;48;48;48;48;48;48	ENSP00000435050:S48N;ENSP00000433893:S48N;ENSP00000431610:S48N;ENSP00000310103:S22N;ENSP00000368144:S48N;ENSP00000433305:S48N;ENSP00000436485:S48N;ENSP00000431475:S48N;ENSP00000432203:S48N;ENSP00000436402:S48N;ENSP00000435241:S48N	ENSP00000310103:S22N	S	+	2	0	PRR5L	36379390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.440000	0.82611	0.655000	0.94253	AGC		0.657	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		19	126	0	0	0	1	0	19	126					A	36422814	G	A	36422814	3	1	79	1	0	0	0	0	1	0	0	0	12649	971	34	2	151	2	PRR5L	11	36422814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174036	36422814	98583702	11945	22262											
PRR5L	79899	broad.mit.edu	37	chr11	36484237	36484237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacggactggaggagggggCcaggggcagccaggagggct	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36484237C>T	ENST00000378867.3	+	10	1413	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	353					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGGGGGCCAGGGGCAGC	0.642																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(1057-1059)gCc>gTc		proline rich 5 like							30	31	31					11																	36484237		2184	4282	6466	SO:0001583	missense	79899							g.chr11:36484237C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1058C>T	11.37:g.36484237C>T	ENSP00000368144:p.Ala353Val					PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V	p.A353V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			10	1413	+			353					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.1058C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223423	0.39300	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.80304	-1.36;-1.36;-1.36	5.41	-0.113	0.13568	.	2.381560	0.01509	N	0.017830	T	0.67249	0.2873	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.51188	-0.8737	10	0.24483	T	0.36	-7.0768	6.0317	0.19684	0.0:0.5007:0.2319:0.2674	.	225;353	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	V	353;280;353	ENSP00000435050:A353V;ENSP00000310103:A280V;ENSP00000368144:A353V	ENSP00000310103:A280V	A	+	2	0	PRR5L	36440813	0.000000	0.05858	0.002000	0.10522	0.885000	0.51271	1.128000	0.31369	0.246000	0.21394	0.555000	0.69702	GCC		0.642	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		8	319	0	0	0	1	0	8	319					T	36484237	C	T	36484237	3	4	79	1	0	0	0	0	1	0	0	0	12649	739	26	2	1094	2	PRR5L	11	36484237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61423	36484237	98522279	11946	22263											
RAG1	5896	broad.mit.edu	37	chr11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagtcacaaggaatcaaaaGagatttttgtgcacattaat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	384					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAATCAAAAGAGATTTTTGT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1150-1152)Gag>Tag		recombination activating gene 1							44	48	46					11																	36596004		2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596004G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1150G>T	11.37:g.36596004G>T	ENSP00000299440:p.Glu384*						p.E384*	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1262	+	all_lung(20;0.226)	all_hematologic(20;0.107)	384					E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.1150G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697658	0.88830	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.61	0.57282	.	0.169885	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5043	0.84266	0.0:0.131:0.869:0.0	.	.	.	.	X	384	.	ENSP00000299440:E384X	E	+	1	0	RAG1	36552580	1.000000	0.71417	0.744000	0.31058	0.777000	0.43975	3.788000	0.55446	1.340000	0.45581	0.650000	0.86243	GAG		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		77	337	1	0	1.20111e-47	1	1.47919e-47	77	337					T	36596004	G	T	36596004	4	4	79	1	0	0	0	0	0	1	0	0	13053	943	33	3	1152	3	RAG1	11	36596004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111767	36596004	98410512	11947	22264											
LRRC4C	57689	broad.mit.edu	37	chr11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtggtgtgagagaggTggtcacattggtggtctccc	16	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	491					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGAGAGGTGGTCACATTG	0.512																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1471-1473)Acc>Ccc		leucine rich repeat containing 4C							143	116	125					11																	40136372		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136372T>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1471A>C	11.37:g.40136372T>G	ENSP00000278198:p.Thr491Pro					LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P	p.T491P			Q9HCJ2	LRC4C_HUMAN			2	3434	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	491					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1471A>C	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576934	0.28092	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.84	5.84	0.93424	.	0.048768	0.85682	D	0.000000	T	0.37571	0.1008	L	0.41710	1.295	0.58432	D	0.999996	B	0.18968	0.032	B	0.21151	0.033	T	0.10730	-1.0617	10	0.39692	T	0.17	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	491	Q9HCJ2	LRC4C_HUMAN	P	491	ENSP00000278198:T491P;ENSP00000436976:T491P;ENSP00000437132:T491P;ENSP00000434761:T491P	ENSP00000278198:T491P	T	-	1	0	LRRC4C	40092948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.228000	0.72767	0.533000	0.62120	ACC		0.512	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		37	216	0	0	0	1	0	37	216					G	40136372	T	G	40136372	3	3	79	1	0	0	0	0	1	0	0	0	9046	1696	59	4	455	4	LRRC4C	11	40136372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3540368	40136372	94870144	11948	22265											
LRRC4C	57689	broad.mit.edu	37	chr11	40136995	40136995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggagtgaagaggtcatgaGgcagtaatgttagattattg	15	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136995G>T	ENST00000278198.2	-	2	2811	c.848C>A	c.(847-849)cCt>cAt	p.P283H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	283					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGGTCATGAGGCAGTAATGT	0.443																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(847-849)cCt>cAt		leucine rich repeat containing 4C							216	168	184					11																	40136995		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136995G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.848C>A	11.37:g.40136995G>T	ENSP00000278198:p.Pro283His					LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H	p.P283H			Q9HCJ2	LRC4C_HUMAN			2	2811	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	283					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.848C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286485	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00520	-1.1692	10	0.37606	T	0.19	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	283	Q9HCJ2	LRC4C_HUMAN	H	283	ENSP00000278198:P283H;ENSP00000436976:P283H;ENSP00000437132:P283H;ENSP00000434761:P283H	ENSP00000278198:P283H	P	-	2	0	LRRC4C	40093571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		16	698	1	0	4.14922e-12	1	4.44601e-12	16	698					T	40136995	G	T	40136995	3	4	79	1	0	0	0	0	1	0	0	0	9046	1000	35	3	1078	3	LRRC4C	11	40136995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	40136995	94869521	11949	22266											
API5	8539	broad.mit.edu	37	chr11	43342961	43342961	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactttttctttatccagAtgactctgcagaatttaacc	5	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000531273.1	+	4	465	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000455725.2_Splice_Site_p.D98A|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000378852.3_Splice_Site_p.D109A|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Splice_Site_p.D109A			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	109	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.e4-1		apoptosis inhibitor 5							58	60	59					11																	43342961		2203	4295	6498	SO:0001630	splice_region_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43342961A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.326-1A>C	11.37:g.43342961A>C						API5_ENST00000534600.1_Splice_Site_p.D109_splice|API5_ENST00000455725.2_Splice_Site_p.D98_splice|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Splice_Site_p.D109_splice|API5_ENST00000420461.2_Splice_Site_p.D55_splice	p.D109_splice	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			4	451	+			109					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Splice_Site	SNP	ENST00000531273.1	37	c.325_splice	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779208	0.90195	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.65975	2.015	0.80722	D	1	B;P;D;P	0.58620	0.117;0.896;0.983;0.873	B;P;P;B	0.60415	0.112;0.519;0.874;0.298	T	0.14699	-1.0463	9	.	.	.	.	15.989	0.80188	1.0:0.0:0.0:0.0	.	55;109;98;109	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	A	98;109;55;109;109	ENSP00000399341:D98A;ENSP00000431391:D109A;ENSP00000402540:D55A;ENSP00000368129:D109A;ENSP00000434462:D109A	.	D	+	2	0	API5	43299537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.489000	0.81451	2.261000	0.74972	0.529000	0.55759	GAT		0.303	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595	Missense_Mutation	42	206	0	0	0	1	0	42	206					C	43342961	A	C	43342961	5	2	79	1	0	0	0	0	0	0	1	0	773	347	12	4	340	4	API5	11	43342961	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3205966	43342961	91663555	11950	22267											
API5	8539	broad.mit.edu	37	chr11	43345051	43345051	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgggttaaaaagcttacaGacagtgagtggaagacagca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000531273.1	+	6	754	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000378852.3_Silent_p.Q205Q|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Silent_p.Q205Q			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	205	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			1	Deletion - In frame(1)	p.L204_S208delLQTVS(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(613-615)caG>caA		apoptosis inhibitor 5							105	102	103					11																	43345051		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345051G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.615G>A	11.37:g.43345051G>A						API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Silent_p.Q205Q|API5_ENST00000420461.2_Silent_p.Q151Q	p.Q205Q	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	740	+			205					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.615G>A	CCDS44572.1																																																																																				0.443	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		88	434	0	0	0	1	0	88	434					A	43345051	G	A	43345051	2	1	79	1	0	0	0	0	0	0	0	1	773	933	33	2		2	API5	11	43345051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2090	43345051	91661465	11951	22268											
API5	8539	broad.mit.edu	37	chr11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacaggctcttacagtGcactcggcaggcagtacccc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000531273.1	+	6	861	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000378852.3_Missense_Mutation_p.C241Y|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.C241Y			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	241	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(721-723)tGc>tAc		apoptosis inhibitor 5							137	135	136					11																	43345158		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345158G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.722G>A	11.37:g.43345158G>A	ENSP00000431391:p.Cys241Tyr					API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.C241Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y	p.C241Y	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	847	+			241					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.722G>A	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	T	0.60919	-0.7167	10	0.62326	D	0.03	-13.4804	19.6343	0.95724	0.0:0.0:1.0:0.0	.	187;241;230;241;241	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	Y	230;241;187;241;241;91	ENSP00000399341:C230Y;ENSP00000431391:C241Y;ENSP00000402540:C187Y;ENSP00000368129:C241Y;ENSP00000434462:C241Y;ENSP00000436436:C91Y	ENSP00000368129:C241Y	C	+	2	0	API5	43301734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TGC		0.458	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		59	736	0	0	0	1	0	59	736					A	43345158	G	A	43345158	3	1	79	1	0	0	0	0	1	0	0	0	773	1319	46	2	744	2	API5	11	43345158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	43345158	91661358	11952	22269											
API5	8539	broad.mit.edu	37	chr11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggctgcagtactttgcaCggggcctgcaagtttatatc	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000531273.1	+	10	1283	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_ENST00000455725.2_Missense_Mutation_p.R371W|API5_ENST00000420461.2_Missense_Mutation_p.R328W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Missense_Mutation_p.R382W|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.R382W|Y_RNA_ENST00000516843.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	382	Leucine-zipper.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1144-1146)Cgg>Tgg		apoptosis inhibitor 5							82	82	82					11																	43351531		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43351531C>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1144C>T	11.37:g.43351531C>T	ENSP00000431391:p.Arg382Trp					API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000455725.2_Missense_Mutation_p.R371W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.R382W|API5_ENST00000420461.2_Missense_Mutation_p.R328W	p.R382W	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			10	1269	+			382			Leucine-zipper.		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1144C>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567229	0.45694	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.46	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.057722	0.64402	D	0.000002	T	0.31071	0.0785	M	0.66297	2.02	0.50313	D	0.999863	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.986;0.992;0.998	T	0.02075	-1.1218	10	0.87932	D	0	-6.7078	9.0068	0.36117	0.3685:0.5638:0.0:0.0677	.	328;382;371;382;382	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	W	371;382;328;382;382;197	ENSP00000399341:R371W;ENSP00000431391:R382W;ENSP00000402540:R328W;ENSP00000368129:R382W;ENSP00000434462:R382W;ENSP00000436436:R197W	ENSP00000368129:R382W	R	+	1	2	API5	43308107	0.977000	0.34250	0.982000	0.44146	0.282000	0.26991	1.421000	0.34815	0.672000	0.31204	-0.119000	0.15052	CGG		0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		55	211	0	0	0	1	0	55	211					T	43351531	C	T	43351531	3	4	79	1	0	0	0	0	1	0	0	0	773	527	19	1	1182	1	API5	11	43351531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6373	43351531	91654985	11953	22270											
TTC17	55761	broad.mit.edu	37	chr11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcaggtagtagaatgtgCcatgcgagcacttcacttct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	249					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(745-747)gCc>gTc		tetratricopeptide repeat domain 17							138	126	130					11																	43418341		2202	4300	6502	SO:0001583	missense	55761						binding	g.chr11:43418341C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.746C>T	11.37:g.43418341C>T	ENSP00000039989:p.Ala249Val					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A249V	p.A249V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			6	760	+			249					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.746C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398035	0.25205	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.54071	0.59;0.59	5.6	5.6	0.85130	.	0.096585	0.64402	D	0.000001	T	0.38665	0.1049	N	0.11064	0.09	0.45227	D	0.998237	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.16722	0.005;0.007;0.016	T	0.13176	-1.0519	10	0.37606	T	0.19	-8.1257	19.5958	0.95536	0.0:1.0:0.0:0.0	.	249;249;249	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	249	ENSP00000299240:A249V;ENSP00000039989:A249V	ENSP00000039989:A249V	A	+	2	0	TTC17	43374917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.806000	0.96561	0.655000	0.94253	GCC		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		46	261	0	0	0	1	0	46	261					T	43418341	C	T	43418341	3	4	79	1	0	0	0	0	1	0	0	0	16738	739	26	2	768	2	TTC17	11	43418341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66810	43418341	91588175	11954	22271											
TTC17	55761	broad.mit.edu	37	chr11	43418898	43418898	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgctgctttccttaggCacaataaagacattgccctg	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Splice_Site_p.H259Y|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	259					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e7-1		tetratricopeptide repeat domain 17							154	128	137					11																	43418898		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43418898C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.774-1C>T	11.37:g.43418898C>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Splice_Site_p.H259_splice	p.H259_splice	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			7	789	+			259					G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37	c.773_splice	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804898	0.70682	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	.	0.183710	0.64402	D	0.000012	T	0.38799	0.1054	N	0.19112	0.55	0.34736	D	0.730297	P;P;P	0.50443	0.824;0.545;0.935	B;B;B	0.43508	0.242;0.124;0.422	T	0.36768	-0.9734	10	0.21014	T	0.42	-12.6988	20.3206	0.98668	0.0:1.0:0.0:0.0	.	259;259;259	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	259	ENSP00000299240:H259Y;ENSP00000039989:H259Y	ENSP00000039989:H259Y	H	+	1	0	TTC17	43375474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.520000	0.60524	2.809000	0.96659	0.655000	0.94253	CAC		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Missense_Mutation	99	462	0	0	0	1	0	99	462					T	43418898	C	T	43418898	5	4	79	1	0	0	0	0	0	0	1	0	16738	724	25	2	801	2	TTC17	11	43418898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	557	43418898	91587618	11955	22272											
TTC17	55761	broad.mit.edu	37	chr11	43423045	43423045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcatagtttacattgCcagtgggaccagcctgtacg	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1267-1269)tgC>tgT		tetratricopeptide repeat domain 17							132	116	122					11																	43423045		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43423045C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1269C>T	11.37:g.43423045C>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			10	1283	+			423					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1269C>T	CCDS31466.1																																																																																				0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	132	0	0	0	1	0	5	132					T	43423045	C	T	43423045	2	4	79	1	0	0	0	0	0	0	0	1	16738	747	26	2		2	TTC17	11	43423045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	43423045	91583471	11956	22273											
HSD17B12	51144	broad.mit.edu	37	chr11	43837021	43837021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtatgagtatcctgaAtactttttggatgttcctga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	142					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4																			0				endometrium(2)|large_intestine(4)|lung(4)	10						c.(424-426)gaA>gaG		hydroxysteroid (17-beta) dehydrogenase 12							159	147	151					11																	43837021		2203	4300	6503	SO:0001819	synonymous_variant	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43837021A>G	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.426A>G	11.37:g.43837021A>G						HSD17B12_ENST00000529261.1_3'UTR	p.E142E	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN			5	545	+			142					A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	c.426A>G	CCDS7905.1																																																																																				0.313	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			70	325	0	0	0	1	0	70	325					G	43837021	A	G	43837021	2	3	79	1	0	0	0	0	0	0	0	1	7411	98	4	4		4	HSD17B12	11	43837021	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	413976	43837021	91169495	11957	22274											
ACCSL	390110	broad.mit.edu	37	chr11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgcagcaggccatgaCggagcacttcgtgcagctga	13	12	0	2	rs374220502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0					ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(121-123)aCg>aTg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	MET/THR	1,4197		0,1,2098	48	54	52		122	-1.2	0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC		0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069708C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.122C>T	11.37:g.44069708C>T	ENSP00000368109:p.Thr41Met						p.T41M	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	178	+			41						Missense_Mutation	SNP	ENST00000378832.1	37	c.122C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG		0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		88	366	0	0	0	1	0	88	366					T	44069708	C	T	44069708	3	4	79	1	0	0	0	0	1	0	0	0	134	536	19	1	124	1	ACCSL	11	44069708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232687	44069708	90936808	11958	22275											
ACCSL	390110	broad.mit.edu	37	chr11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttaggggaaaaaggtccGaggccttgtgctaatcaacc	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAAAGGTCCGAGGCCTTGTG	0.433																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(961-963)cGa>cAa		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							108	102	104					11																	44074969		1846	4083	5929	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074969G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.962G>A	11.37:g.44074969G>A	ENSP00000368109:p.Arg321Gln						p.R321Q	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			8	1018	+			321						Missense_Mutation	SNP	ENST00000378832.1	37	c.962G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933436	0.34096	.	.	ENSG00000205126	ENST00000378832	T	0.25749	1.78	4.45	-2.01	0.07410	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408973	0.27677	N	0.018317	T	0.48589	0.1508	M	0.89214	3.015	0.30832	N	0.736595	D	0.67145	0.996	D	0.68039	0.955	T	0.54132	-0.8339	10	0.72032	D	0.01	-0.7774	9.967	0.41730	0.6527:0.0:0.3473:0.0	.	321	Q4AC99	1A1L2_HUMAN	Q	321	ENSP00000368109:R321Q	ENSP00000368109:R321Q	R	+	2	0	ACCSL	44031545	0.998000	0.40836	0.132000	0.22025	0.002000	0.02628	0.541000	0.23207	-0.521000	0.06426	-0.140000	0.14226	CGA		0.433	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		54	245	0	0	0	1	0	54	245					A	44074969	G	A	44074969	3	1	79	1	0	0	0	0	1	0	0	0	134	1058	37	1	992	1	ACCSL	11	44074969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5261	44074969	90931547	11959	22276											
ACCSL	390110	broad.mit.edu	37	chr11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacggctcctctattgccGcttcctggacaacaagctat	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1516-1518)cGc>cAc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							110	111	111					11																	44080142		1879	4117	5996	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080142G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1517G>A	11.37:g.44080142G>A	ENSP00000368109:p.Arg506His						p.R506H	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			13	1573	+			506						Missense_Mutation	SNP	ENST00000378832.1	37	c.1517G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	ACCSL	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		99	475	0	0	0	1	0	99	475					A	44080142	G	A	44080142	3	1	79	1	0	0	0	0	1	0	0	0	134	1087	38	1	1567	1	ACCSL	11	44080142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5173	44080142	90926374	11960	22277											
ACCS	84680	broad.mit.edu	37	chr11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgcaggcaaatcccaaGtggcagaagacccccgtccc	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	484					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAAATCCCAAGTGGCAGAAGA	0.627																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(1450-1452)Gtg>Ttg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							51	48	49					11																	44105286		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105286G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1450G>T	11.37:g.44105286G>T	ENSP00000263776:p.Val484Leu						p.V484L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			15	1884	+			484					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.1450G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324563	0.10900	.	.	ENSG00000110455	ENST00000263776	T	0.59772	0.24	5.38	1.32	0.21799	.	1.269890	0.05154	N	0.496626	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.28530	T	0.3	-1.5062	5.4491	0.16552	0.2467:0.1441:0.6092:0.0	.	484	Q96QU6	1A1L1_HUMAN	L	484	ENSP00000263776:V484L	ENSP00000263776:V484L	V	+	1	0	ACCS	44061862	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.052000	0.16007	-0.140000	0.14226	GTG		0.627	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		10	186	1	0	0.0135373	1	0.0136081	10	186					T	44105286	G	T	44105286	3	4	79	1	0	0	0	0	1	0	0	0	133	1029	36	3	1504	3	ACCS	11	44105286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25144	44105286	90901230	11961	22278											
EXT2	2132	broad.mit.edu	37	chr11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttctccattgtcctcCtgggcctcattgccactggc	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000343631.3	+	2	232	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	35					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(202-204)Ctg>Atg		exostosin glycosyltransferase 2							167	173	171					11																	44129365		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129365C>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.103C>A	11.37:g.44129365C>A	ENSP00000342656:p.Leu35Met					EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000343631.3_Missense_Mutation_p.L35M	p.L68M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			2	258	+			35					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.202C>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755661	0.49362	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D	0.65815	0.974;0.991;0.995;0.98;0.98	P;P;P;P;P	0.60886	0.758;0.762;0.88;0.674;0.674	T	0.69537	-0.5119	10	0.72032	D	0.01	0.1963	12.1929	0.54280	0.0:0.8608:0.0:0.1392	.	35;35;35;35;48	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	35;35;35;35;68;35	ENSP00000431173:L35M;ENSP00000433827:L35M;ENSP00000434716:L35M;ENSP00000351509:L35M;ENSP00000379032:L68M;ENSP00000342656:L35M	ENSP00000342656:L35M	L	+	1	2	EXT2	44085941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.682000	0.31407	0.650000	0.86243	CTG		0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		84	368	1	0	1.07134e-49	1	1.32585e-49	84	368					A	44129365	C	A	44129365	3	1	79	1	0	0	0	0	1	0	0	0	5342	680	24	3	208	3	EXT2	11	44129365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24079	44129365	90877151	11962	22279											
EXT2	2132	broad.mit.edu	37	chr11	44148421	44148421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccaggcagtattgaGcgatgtgttacaagctggct	15	8	0	1	rs148493676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44148421G>T	ENST00000343631.3	+	6	1124	c.995G>T	c.(994-996)aGc>aTc	p.S332I	EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000395673.3_Missense_Mutation_p.S365I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	332					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCAGTATTGAGCGATGTGTTA	0.493			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1093-1095)aGc>aTc		exostosin glycosyltransferase 2							301	274	283					11																	44148421		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44148421G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.995G>T	11.37:g.44148421G>T	ENSP00000342656:p.Ser332Ile					EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000343631.3_Missense_Mutation_p.S332I	p.S365I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			6	1150	+			332					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1094G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736694	0.49045	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	L	0.35593	1.075	0.80722	D	1	D;B;B;B;B	0.53619	0.961;0.127;0.104;0.21;0.21	P;B;B;B;B	0.55508	0.777;0.173;0.108;0.042;0.042	D	0.95629	0.8688	10	0.32370	T	0.25	-23.4442	19.9598	0.97242	0.0:0.0:1.0:0.0	.	332;332;332;332;345	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	332;332;365;332	ENSP00000431173:S332I;ENSP00000351509:S332I;ENSP00000379032:S365I;ENSP00000342656:S332I	ENSP00000342656:S332I	S	+	2	0	EXT2	44104997	1.000000	0.71417	0.994000	0.49952	0.356000	0.29392	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	AGC		0.493	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		14	904	1	0	1.49906e-05	1	1.53515e-05	14	904					T	44148421	G	T	44148421	3	4	79	1	0	0	0	0	1	0	0	0	5342	971	34	3	1116	3	EXT2	11	44148421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19056	44148421	90858095	11963	22280											
EXT2	2132	broad.mit.edu	37	chr11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctgtccttaggtctggCgggaatttcctgaccggttg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000343631.3	+	11	1798	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	557					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32	GRCh37	CD010608	EXT2	D		c.(1768-1770)Cgg>Tgg		exostosin glycosyltransferase 2							129	115	120					11																	44253909		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44253909C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1669C>T	11.37:g.44253909C>T	ENSP00000342656:p.Arg557Trp					EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000343631.3_Missense_Mutation_p.R557W	p.R590W	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			11	1824	+			557					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1768C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.08	4.14	0.48551	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997	D	0.94999	0.8141	10	0.87932	D	0	-6.3232	13.2204	0.59883	0.2891:0.7108:0.0:0.0	.	557;567;567;557;570	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	557;567;590;557	ENSP00000431173:R557W;ENSP00000351509:R567W;ENSP00000379032:R590W;ENSP00000342656:R557W	ENSP00000342656:R557W	R	+	1	2	EXT2	44210485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.843000	0.62838	1.093000	0.41377	0.591000	0.81541	CGG		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		52	229	0	0	0	1	0	52	229					T	44253909	C	T	44253909	3	4	79	1	0	0	0	0	1	0	0	0	5342	759	27	1	1907	1	EXT2	11	44253909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105488	44253909	90752607	11964	22281											
ALX4	60529	broad.mit.edu	37	chr11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgttcccgcgcatacaCgtctgggtagtgggtcttct	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	241					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(721-723)Gtg>Atg		ALX homeobox 4							108	107	107					11																	44296954		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44296954C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.721G>A	11.37:g.44296954C>T	ENSP00000332744:p.Val241Met						p.V241M	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	824	-			241					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.721G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045191	0.75846	.	.	ENSG00000052850	ENST00000329255	D	0.96265	-3.96	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136421	0.48767	D	0.000171	D	0.97879	0.9303	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97755	1.0217	10	0.38643	T	0.18	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	241	Q9H161	ALX4_HUMAN	M	241	ENSP00000332744:V241M	ENSP00000332744:V241M	V	-	1	0	ALX4	44253530	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	GTG		0.612	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			158	682	0	0	0	1	0	158	682					T	44296954	C	T	44296954	3	4	79	1	0	0	0	0	1	0	0	0	558	536	19	1	526	1	ALX4	11	44296954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43045	44296954	90709562	11965	22282											
PRDM11	56981	broad.mit.edu	37	chr11	45246288	45246288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgcctaaagaagaaggtTcgggagctccaggcagaatt	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000530656.1	+	7	1365	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	PRDM11_ENST00000263765.4_Silent_p.V455V|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Silent_p.V421V|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	455							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1363-1365)gtT>gtC		PR domain containing 11							178	189	185					11																	45246288		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45246288T>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1365T>C	11.37:g.45246288T>C						CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.V455V|PRDM11_ENST00000424263.2_Silent_p.V421V	p.V455V			Q9NQV5	PRD11_HUMAN			8	1614	+			455					Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.1365T>C																																																																																					0.547	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		280	1240	0	0	0	1	0	280	1240					C	45246288	T	C	45246288	2	2	79	1	0	0	0	0	0	0	0	1	12499	1770	62	4		4	PRDM11	11	45246288	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949334	45246288	89760228	11966	22283											
SYT13	57586	broad.mit.edu	37	chr11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcccagtggctgcgctcaGagcccgaggtgtgcaggccc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	402					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1204-1206)tCt>tAt		synaptotagmin XIII							63	65	64					11																	45265679		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265679G>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.1205C>A	11.37:g.45265679G>T	ENSP00000020926:p.Ser402Tyr						p.S402Y	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1316	-			402					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1205C>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618315	0.66787	.	.	ENSG00000019505	ENST00000020926	T	0.06933	3.24	5.54	5.54	0.83059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313001	0.29286	N	0.012600	T	0.12518	0.0304	L	0.47190	1.495	0.36781	D	0.884328	B	0.33448	0.412	B	0.34722	0.188	T	0.06023	-1.0850	10	0.59425	D	0.04	.	19.4948	0.95067	0.0:0.0:1.0:0.0	.	402	Q7L8C5	SYT13_HUMAN	Y	402	ENSP00000020926:S402Y	ENSP00000020926:S402Y	S	-	2	0	SYT13	45222255	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	7.622000	0.83099	2.615000	0.88500	0.655000	0.94253	TCT		0.647	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		86	317	1	0	2.00703e-41	1	2.43794e-41	86	317					T	45265679	G	T	45265679	3	4	79	1	0	0	0	0	1	0	0	0	15521	942	33	3	79	3	SYT13	11	45265679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19391	45265679	89740837	11967	22284											
SYT13	57586	broad.mit.edu	37	chr11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacacaggcaggtgaccccGcacaacgcgaggatgctggt	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(70-72)tgC>tgA		synaptotagmin XIII							16	15	15					11																	45307687		2194	4292	6486	SO:0001587	stop_gained	57586					transport vesicle		g.chr11:45307687G>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.72C>A	11.37:g.45307687G>T	ENSP00000020926:p.Cys24*						p.C24*	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			1	183	-			24					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Nonsense_Mutation	SNP	ENST00000020926.3	37	c.72C>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656339	0.88056	.	.	ENSG00000019505	ENST00000020926	.	.	.	3.75	0.564	0.17302	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.6769	0.28490	0.3094:0.0:0.6906:0.0	.	.	.	.	X	24	.	ENSP00000020926:C24X	C	-	3	2	SYT13	45264263	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	0.454000	0.21827	0.079000	0.16929	-0.680000	0.03767	TGC		0.706	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		17	51	1	0	1.99824e-07	1	2.07512e-07	17	51					T	45307687	G	T	45307687	4	4	79	1	0	0	0	0	0	1	0	0	15521	1079	38	3	1232	3	SYT13	11	45307687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42008	45307687	89698829	11968	22285											
SLC35C1	55343	broad.mit.edu	37	chr11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctacaacaacgtcaacGcctgcatcctcttcctgccc	4	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	238					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(712-714)Gcc>Acc		solute carrier family 35 (GDP-fucose transporter), member C1							59	55	56					11																	45832503		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832503G>A		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.712G>A	11.37:g.45832503G>A	ENSP00000313318:p.Ala238Thr					SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	p.A238T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	2108	+			238					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.712G>A	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291539	0.95546	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.68765	-0.35;-0.35;-0.35	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.82711	-0.0322	10	0.39692	T	0.17	-43.6867	20.8794	0.99867	0.0:0.0:1.0:0.0	.	238	Q96A29	FUCT1_HUMAN	T	225;225;159;238;238	ENSP00000412408:A225T;ENSP00000399779:A225T;ENSP00000313318:A238T	ENSP00000313318:A238T	A	+	1	0	SLC35C1	45789079	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.570000	0.98174	2.941000	0.99782	0.655000	0.94253	GCC		0.627	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		57	232	0	0	0	1	0	57	232					A	45832503	G	A	45832503	3	1	79	1	0	0	0	0	1	0	0	0	14629	1087	38	1	718	1	SLC35C1	11	45832503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524816	45832503	89174013	11969	22286											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcagagcccacctccGccttcctgccgcccactgag	9	20	0	2	rs141639373	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000241014.2	+	5	1062	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.A288T	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	298	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14833	0.0		0.0	False		,,,				2504	0.0					ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(862-864)Gcc>Acc		mitogen-activated protein kinase 8 interacting protein 1		G	THR/ALA	2,4400		0,2,2199	20	24	22		892	1.5	0.6	11	dbSNP_134	22	1,8587		0,1,4293	yes	missense	MAPK8IP1	NM_005456.3	58	0,3,6492	AA,AG,GG		0.0116,0.0454,0.0231	benign	298/712	45924210	3,12987	2201	4294	6495	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924210G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.892G>A	11.37:g.45924210G>A	ENSP00000241014:p.Ala298Thr					MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.A298T	p.A288T			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1192	+			298					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.862G>A	CCDS7916.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.492	0.650899	0.14516	4.54E-4	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36157	1.27;1.27	4.58	1.52	0.23074	.	0.564273	0.19607	N	0.110250	T	0.13200	0.0320	N	0.12182	0.205	0.21064	N	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.8899	2.9285	0.05792	0.1779:0.1808:0.5165:0.1248	.	298	Q9UQF2	JIP1_HUMAN	T	298;288	ENSP00000241014:A298T;ENSP00000378991:A288T	ENSP00000241014:A298T	A	+	1	0	MAPK8IP1	45880786	0.001000	0.12720	0.573000	0.28510	0.710000	0.40934	0.934000	0.28910	0.219000	0.20840	0.561000	0.74099	GCC		0.662	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		51	171	0	0	0	1	0	51	171					A	45924210	G	A	45924210	3	1	79	1	0	0	0	0	1	0	0	0	9325	1087	38	1	910	1	MAPK8IP1	11	45924210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91707	45924210	89082306	11970	22287											
C11orf94	143678	broad.mit.edu	37	chr11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgcatcatagtaatactCggcaaggtcgggcccgtccc	12	12	1	0	rs370775218	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	91						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.0031					ENST00000449465.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(271-273)Gag>Aag		chromosome 11 open reading frame 94		C	LYS/GLU	0,3844		0,0,1922	85	89	88		271	4.7	0.9	11		88	1,8245		0,1,4122	no	missense	C11orf94	NM_001080446.2	56	0,1,6044	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	91/99	45928146	1,12089	1922	4123	6045	SO:0001583	missense	143678					extracellular region		g.chr11:45928146C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.271G>A	11.37:g.45928146C>T	ENSP00000401498:p.Glu91Lys						p.E91K	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN			3	307	-			91						Missense_Mutation	SNP	ENST00000449465.1	37	c.271G>A	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536627	0.45176	0.0	1.21E-4	ENSG00000234776	ENST00000449465	T	0.53206	0.63	4.66	4.66	0.58398	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.31659	N	0.64586	D	0.56521	0.976	P	0.47981	0.563	T	0.63580	-0.6605	8	0.62326	D	0.03	-14.8082	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	C9JXX5	CK094_HUMAN	K	91	ENSP00000401498:E91K	ENSP00000401498:E91K	E	-	1	0	C11orf94	45884722	0.983000	0.35010	0.918000	0.36340	0.016000	0.09150	2.674000	0.46867	2.419000	0.82065	0.655000	0.94253	GAG		0.607	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		88	484	0	0	0	1	0	88	484					T	45928146	C	T	45928146	3	4	79	1	0	0	0	0	1	0	0	0	1678	893	31	1	29	1	C11orf94	11	45928146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3936	45928146	89078370	11971	22288											
C11orf94	143678	broad.mit.edu	37	chr11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatactaccatccaccaggcCggaaagtggctgcgagagtt	12	11	0	1	rs376288720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	55						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18178	0.001		0.0	False		,,,				2504	0.0					ENST00000449465.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(163-165)Ggc>Agc		chromosome 11 open reading frame 94							69	81	77					11																	45928432		2017	4165	6182	SO:0001583	missense	143678					extracellular region		g.chr11:45928432C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.163G>A	11.37:g.45928432C>T	ENSP00000401498:p.Gly55Ser						p.G55S	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN			2	199	-			55						Missense_Mutation	SNP	ENST00000449465.1	37	c.163G>A	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832458	0.50845	.	.	ENSG00000234776	ENST00000449465	T	0.54675	0.56	4.73	2.84	0.33178	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.27540	N	0.950833	P	0.38020	0.615	B	0.33121	0.158	T	0.26710	-1.0095	8	0.87932	D	0	-4.7454	9.5199	0.39129	0.0:0.8542:0.0:0.1458	.	55	C9JXX5	CK094_HUMAN	S	55	ENSP00000401498:G55S	ENSP00000401498:G55S	G	-	1	0	C11orf94	45885008	0.897000	0.30589	0.264000	0.24511	0.265000	0.26407	1.715000	0.37971	0.422000	0.26005	0.591000	0.81541	GGC		0.617	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		71	411	0	0	0	1	0	71	411					T	45928432	C	T	45928432	3	4	79	1	0	0	0	0	1	0	0	0	1678	652	23	1	141	1	C11orf94	11	45928432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286	45928432	89078084	11972	22289											
PEX16	143678	broad.mit.edu	37	chr11	45931662	45931662	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgtcctgggaggaacGctggtggcgaccagggctgt	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45931662G>A	ENST00000449465.1	-	0	0				PEX16_ENST00000241041.3_Missense_Mutation_p.A340V	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TGGGAGGAACGCTGGTGGCGA	0.642																																						ENST00000241041.3																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(1018-1020)gCg>gTg		peroxisomal biogenesis factor 16							95	98	97					11																	45931662		2203	4299	6502	SO:0001631	upstream_gene_variant	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45931662G>A		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004		11.37:g.45931662G>A	Exception_encountered						p.A340V	NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	11	1036	-			0						Missense_Mutation	SNP	ENST00000449465.1	37	c.1019C>T	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791980	0.31685	.	.	ENSG00000121680	ENST00000241041	T	0.24723	1.84	3.84	-1.58	0.08479	.	16.089000	0.00628	N	0.000469	T	0.17238	0.0414	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26121	-1.0112	9	0.87932	D	0	16.0769	1.5518	0.02576	0.1309:0.1354:0.3266:0.4071	.	340	Q9Y5Y5-2	.	V	340	ENSP00000241041:A340V	ENSP00000241041:A340V	A	-	2	0	PEX16	45888238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.805000	0.01737	-0.406000	0.07588	-0.425000	0.05940	GCG		0.642	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		73	328	0	0	0	1	0	73	328					A	45931662	G	A	45931662	1	1	79	0	1	0	0	0	0	0	0	0	11785	1087	38	1		1	PEX16	11	45931662	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3230	45931662	89074854	11973	22290											
GYLTL1B	120071	broad.mit.edu	37	chr11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcccccacctggtgCtgagcaggtgagaaggagtc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	386					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCACCTGGTGCTGAGCAGGTG	0.592																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1156-1158)gCt>gAt		glycosyltransferase-like 1B							60	62	61					11																	45948141		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45948141C>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1157C>A	11.37:g.45948141C>A	ENSP00000432869:p.Ala386Asp					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D	p.A386D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	9	1268	+			386					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1157C>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394301	0.25205	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82893	0.92;0.93;0.93;-1.66;0.93;0.92	5.45	4.53	0.55603	.	0.349496	0.30686	N	0.009081	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29955	0.129;0.263;0.138	B;B;B	0.26614	0.071;0.045;0.065	T	0.57568	-0.7789	10	0.26408	T	0.33	-3.7422	8.1499	0.31134	0.0:0.7569:0.1576:0.0854	.	355;355;386	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	D	355;386;386;113;386;355;47	ENSP00000431932:A355D;ENSP00000432869:A386D;ENSP00000385235:A386D;ENSP00000374618:A113D;ENSP00000324570:A386D;ENSP00000445044:A355D	ENSP00000324570:A386D	A	+	2	0	GYLTL1B	45904717	0.001000	0.12720	0.159000	0.22649	0.527000	0.34593	0.440000	0.21592	1.284000	0.44531	0.561000	0.74099	GCT		0.592	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		49	216	1	0	1.51926e-22	1	1.72e-22	49	216					A	45948141	C	A	45948141	3	1	79	1	0	0	0	0	1	0	0	0	6937	797	28	3	1187	3	GYLTL1B	11	45948141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16479	45948141	89058375	11974	22291											
PHF21A	51317	broad.mit.edu	37	chr11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatttggacagcctctGccccaggcccagtgacctta	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000418153.2	-	7	771	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	191					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GACAGCCTCTGCCCCAGGCCC	0.512																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(571-573)gCa>gTa		PHD finger protein 21A							110	91	97					11																	45992707		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45992707G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.572C>T	11.37:g.45992707G>A	ENSP00000398824:p.Ala191Val					PHF21A_ENST00000418153.2_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V	p.A191V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			7	1195	-			191					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.572C>T	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451365	0.84209	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.51574	0.7;0.7;0.7	5.59	5.59	0.84812	.	0.153764	0.64402	D	0.000015	T	0.54631	0.1870	L	0.54323	1.7	0.58432	D	0.999991	B;D	0.55605	0.265;0.972	B;P	0.48488	0.054;0.579	T	0.55244	-0.8171	10	0.49607	T	0.09	-7.3342	19.5907	0.95509	0.0:0.0:1.0:0.0	.	191;191	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	191	ENSP00000257821:A191V;ENSP00000323152:A191V;ENSP00000398824:A191V	ENSP00000257821:A191V	A	-	2	0	PHF21A	45949283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.640000	0.89533	0.655000	0.94253	GCA		0.512	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		47	176	0	0	0	1	0	47	176					A	45992707	G	A	45992707	3	1	79	1	0	0	0	0	1	0	0	0	11875	1319	46	2	1548	2	PHF21A	11	45992707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44566	45992707	89013809	11975	22292											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-													gctgcagctgactgctgggcGtggtggtggtggtactgctg					rs372037631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		7	338						7	338	---	---	---	---	-	46001358	GTG	-	46001356	7	5	79	1	0	1	0	1	0	0	0	0	11875	1136	40	0	1809	0	PHF21A	11	46001356	In_Frame_Del	DEL	GTG	TCGA-IB-7651-01A-11D-2154-08	8649	46001356	89005160	11976	22293											
CREB3L1	90993	broad.mit.edu	37	chr11	46332593	46332593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccccagaggacctggtGcagatgcctccgacgccccc	10	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	202					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(604-606)gtG>gtA		cAMP responsive element binding protein 3-like 1							64	72	69					11																	46332593		2158	4251	6409	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332593G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.606G>A	11.37:g.46332593G>A						CREB3L1_ENST00000288400.3_Silent_p.V202V	p.V202V			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1057	+			202					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.606G>A	CCDS53620.1																																																																																				0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		113	484	0	0	0	1	0	113	484					A	46332593	G	A	46332593	2	1	79	1	0	0	0	0	0	0	0	1	3865	1306	46	2		2	CREB3L1	11	46332593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331237	46332593	88673923	11977	22294											
CREB3L1	90993	broad.mit.edu	37	chr11	46341984	46341984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacctggacagcacccaCgagaccaccaagtacctgag	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	476					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1426-1428)caC>caT		cAMP responsive element binding protein 3-like 1							32	42	39					11																	46341984		2109	4213	6322	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46341984C>T		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1428C>T	11.37:g.46341984C>T						CREB3L1_ENST00000288400.3_Silent_p.H476H	p.H476H			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1879	+			476					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.1428C>T	CCDS53620.1																																																																																				0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		22	76	0	0	0	1	0	22	76					T	46341984	C	T	46341984	2	4	79	1	0	0	0	0	0	0	0	1	3865	535	19	1		1	CREB3L1	11	46341984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9391	46341984	88664532	11978	22295											
CREB3L1	90993	broad.mit.edu	37	chr11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaaacggcaccagccccGacttctcccactccaaggag	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	497					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1489-1491)Gac>Aac		cAMP responsive element binding protein 3-like 1							26	33	31					11																	46342045		2091	4177	6268	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46342045G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1489G>A	11.37:g.46342045G>A	ENSP00000434939:p.Asp497Asn					CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N	p.D497N			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1940	+			497					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.1489G>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400389	0.25291	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63417	-0.04;-0.04	4.69	0.622	0.17648	.	0.410430	0.21415	N	0.074914	T	0.46092	0.1375	L	0.36672	1.1	0.21861	N	0.999502	B;B	0.18863	0.031;0.002	B;B	0.13407	0.009;0.001	T	0.26360	-1.0105	10	0.30854	T	0.27	5.5209	8.3401	0.32239	0.4625:0.0:0.5375:0.0	.	409;497	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	N	497;497;409	ENSP00000434939:D497N;ENSP00000288400:D497N	ENSP00000288400:D497N	D	+	1	0	CREB3L1	46298621	0.999000	0.42202	0.933000	0.37362	0.944000	0.59088	2.068000	0.41471	-0.156000	0.11079	0.430000	0.28490	GAC		0.632	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		14	54	0	0	0	1	0	14	54					A	46342045	G	A	46342045	3	1	79	1	0	0	0	0	1	0	0	0	3865	1058	37	1	1531	1	CREB3L1	11	46342045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	46342045	88664471	11979	22296											
DGKZ	8525	broad.mit.edu	37	chr11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttaggagacatttcCgggggaaggtgccaggccct	13	10	1	1	rs376212984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	10					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(28-30)Cgg>Tgg		diacylglycerol kinase, zeta		C	TRP/ARG,,,,,,	1,3663		0,1,1831	10	12	12		28,,,,,,	3.5	1	11		12	0,7850		0,0,3925	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,1,5756	TT,TC,CC		0.0,0.0273,0.0087	benign,,,,,,	10/1118,,,,,,	46387834	1,11513	1832	3925	5757	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387834C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.28C>T	11.37:g.46387834C>T	ENSP00000412178:p.Arg10Trp					DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron	p.R10W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	153	+			10					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.28C>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113186	0.37339	2.73E-4	0.0	ENSG00000149091	ENST00000454345	T	0.72942	-0.7	4.53	3.48	0.39840	.	0.514132	0.14134	N	0.339146	T	0.51160	0.1658	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	B	0.36504	0.226	T	0.57596	-0.7784	10	0.72032	D	0.01	.	8.4214	0.32703	0.2481:0.6147:0.1372:0.0	.	10	Q13574	DGKZ_HUMAN	W	10	ENSP00000412178:R10W	ENSP00000412178:R10W	R	+	1	2	DGKZ	46344410	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	3.810000	0.55613	2.234000	0.73211	0.563000	0.77884	CGG		0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		14	96	0	0	0	1	0	14	96					T	46387834	C	T	46387834	3	4	79	1	0	0	0	0	1	0	0	0	4490	643	23	1	474	1	DGKZ	11	46387834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45789	46387834	88618682	11980	22297											
DGKZ	8525	broad.mit.edu	37	chr11	46387913	46387913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcaaggcccggcgtcGctcccccgctgggcaggcct	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	ENST00000454345.1	+	2	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	36					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCGGCGTCGCTCCCCCGCT	0.716																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(106-108)cGc>cAc		diacylglycerol kinase, zeta																																				SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387913G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.107G>A	11.37:g.46387913G>A	ENSP00000412178:p.Arg36His					DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron	p.R36H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	232	+			36					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.107G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449932	0.84101	.	.	ENSG00000149091	ENST00000454345	T	0.81330	-1.48	4.53	4.53	0.55603	.	0.707951	0.11658	N	0.542176	D	0.83658	0.5302	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.84401	0.0560	10	0.87932	D	0	.	17.6789	0.88237	0.0:0.0:1.0:0.0	.	36	Q13574	DGKZ_HUMAN	H	36	ENSP00000412178:R36H	ENSP00000412178:R36H	R	+	2	0	DGKZ	46344489	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	8.687000	0.91255	2.234000	0.73211	0.563000	0.77884	CGC		0.716	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		5	42	0	0	0	1	0	5	42					A	46387913	G	A	46387913	3	1	79	1	0	0	0	0	1	0	0	0	4490	1087	38	1	553	1	DGKZ	11	46387913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	46387913	88618603	11981	22298											
DGKZ	8525	broad.mit.edu	37	chr11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtcactgcaaggggatgCtgcaccccctcaaggtgagg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2923-2925)gCt>gAt		diacylglycerol kinase, zeta							49	42	45					11																	46399765		2197	4297	6494	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46399765C>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2924C>A	11.37:g.46399765C>A	ENSP00000412178:p.Ala975Asp					DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D	p.A975D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	27	3049	+			975					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2924C>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010579	0.19277	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24908	2.37;2.56;2.55;2.6;2.81;3.56;2.37;2.43;2.55;1.83	3.71	2.75	0.32379	.	0.914548	0.09154	U	0.841129	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.14438	0.0;0.01;0.001;0.0;0.0;0.0;0.002;0.006;0.003	B;B;B;B;B;B;B;B;B	0.11329	0.001;0.004;0.001;0.001;0.001;0.002;0.005;0.003;0.006	T	0.31861	-0.9928	10	0.13108	T	0.6	.	8.3404	0.32241	0.2347:0.7653:0.0:0.0	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	D	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803D;ENSP00000434719:A565D;ENSP00000378941:A753D;ENSP00000436273:A752D;ENSP00000438417:A139D;ENSP00000436291:A787D;ENSP00000395684:A786D;ENSP00000391021:A787D;ENSP00000320340:A764D;ENSP00000412178:A975D	ENSP00000320340:A764D	A	+	2	0	DGKZ	46356341	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	0.707000	0.25704	1.090000	0.41315	0.561000	0.74099	GCT		0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		11	54	1	0	1.61879e-10	1	1.71755e-10	11	54					A	46399765	C	A	46399765	3	1	79	1	0	0	0	0	1	0	0	0	4490	797	28	3	3473	3	DGKZ	11	46399765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11852	46399765	88606751	11982	22299											
MDK	4192	broad.mit.edu	37	chr11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgatgggggcacagGcaccaaagtccgccaaggca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	99					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657																																						ENST00000405308.2																			0				lung(1)	1						c.(295-297)gGc>gAc		midkine (neurite growth-promoting factor 2)							55	43	47					11																	46404188		2201	4298	6499	SO:0001583	missense	4192				adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding	g.chr11:46404188G>A		CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.296G>A	11.37:g.46404188G>A	ENSP00000385451:p.Gly99Asp					MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR	p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN		GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)	4	725	+			99					Q2LEK4|Q9UCC7	Missense_Mutation	SNP	ENST00000405308.2	37	c.296G>A	CCDS7919.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709696	0.89018	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.79488	0.4454	M	0.75264	2.295	0.47276	D	0.999377	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.989	T	0.81667	-0.0829	8	0.72032	D	0.01	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	43;99;99	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	D	99;99;99;99;43;99;99;99	.	ENSP00000352852:G99D	G	+	2	0	MDK	46360764	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.946000	0.49050	2.686000	0.91538	0.650000	0.86243	GGC		0.657	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	NM_001012334		31	97	0	0	0	1	0	31	97					A	46404188	G	A	46404188	3	1	79	1	0	0	0	0	1	0	0	0	9452	1203	42	2	306	2	MDK	11	46404188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4423	46404188	88602328	11983	22300											
CHRM4	1132	broad.mit.edu	37	chr11	46407334	46407334	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggcggcctccccgggCgggggcttcttgacgctctg	16	16	2	1	rs200458397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46407334C>A	ENST00000433765.2	-	1	773	c.774G>T	c.(772-774)ccG>ccT	p.P258P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	258					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCCCCGGGCGGGGGCTTCT	0.687																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(772-774)ccG>ccT		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						11	13	12					11																	46407334		1860	4052	5912	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407334C>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.774G>T	11.37:g.46407334C>A							p.P258P	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	773	-			258					B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.774G>T	CCDS44581.1																																																																																				0.687	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	77	1	0	0.014758	1	0.0148251	5	77					A	46407334	C	A	46407334	2	1	79	1	0	0	0	0	0	0	0	1	3388	755	27	3		3	CHRM4	11	46407334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3146	46407334	88599182	11984	22301											
AMBRA1	55626	broad.mit.edu	37	chr11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagggaaacaggaatgGggacaggggaggaagagggc	22	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3763-3765)cCc>cTc		autophagy/beclin-1 regulator 1							66	67	67					11																	46419133		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419133G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3764C>T	11.37:g.46419133G>A	ENSP00000415327:p.Pro1255Leu					AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L	p.P1255L			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4182	-			1255					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3764C>T		.	.	.	.	.	.	.	.	.	.	G	8.631	0.893776	0.17613	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.37;-0.54;-0.13;-0.26;-0.13;-0.23;-0.26	4.22	1.13	0.20643	.	0.389476	0.24027	N	0.042225	T	0.48333	0.1494	N	0.19112	0.55	0.27832	N	0.941416	B;B;B;B;B;B	0.33238	0.18;0.275;0.275;0.275;0.403;0.275	B;B;B;B;B;B	0.25291	0.011;0.025;0.025;0.025;0.059;0.025	T	0.45659	-0.9246	10	0.87932	D	0	.	7.394	0.26926	0.0:0.3543:0.463:0.1826	.	1255;1226;1195;1136;1258;1165	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	1165;1136;1195;1226;1195;1255;213;1226	ENSP00000318313:P1165L;ENSP00000433372:P1136L;ENSP00000431926:P1195L;ENSP00000410899:P1226L;ENSP00000298834:P1195L;ENSP00000415327:P1255L;ENSP00000433945:P1226L	ENSP00000298834:P1195L	P	-	2	0	AMBRA1	46375709	0.898000	0.30612	0.201000	0.23476	0.011000	0.07611	1.646000	0.37249	0.267000	0.21916	-0.314000	0.08810	CCC		0.647	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		14	246	0	0	0	1	0	14	246					A	46419133	G	A	46419133	3	1	79	1	0	0	0	0	1	0	0	0	565	1232	43	2	136	2	AMBRA1	11	46419133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11799	46419133	88587383	11985	22302											
AMBRA1	55626	broad.mit.edu	37	chr11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgggggcttaggcctcGctctgccagttgcccggcct	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1224					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3670-3672)Cga>Tga		autophagy/beclin-1 regulator 1							52	55	54					11																	46419227		2202	4299	6501	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419227G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3670C>T	11.37:g.46419227G>A	ENSP00000415327:p.Arg1224*					AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*	p.R1224*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4088	-			1224					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.3670C>T		.	.	.	.	.	.	.	.	.	.	G	16.65	3.182655	0.57800	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	.	.	.	5.35	5.35	0.76521	.	0.127211	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4218	0.87517	0.0:0.0:1.0:0.0	.	.	.	.	X	1134;1105;1164;1195;1164;1224;182;1195	.	ENSP00000298834:R1164X	R	-	1	2	AMBRA1	46375803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.832000	0.69337	2.791000	0.96007	0.561000	0.74099	CGA		0.692	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		54	244	0	0	0	1	0	54	244					A	46419227	G	A	46419227	4	1	79	1	0	0	0	0	0	1	0	0	565	1095	38	1	230	1	AMBRA1	11	46419227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	46419227	88587289	11986	22303											
AMBRA1	55626	broad.mit.edu	37	chr11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcagtctgtgtttcgGcattctgcagctgaagggcc	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1114					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3340-3342)gCc>gTc		autophagy/beclin-1 regulator 1							71	63	66					11																	46430125		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46430125G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3341C>T	11.37:g.46430125G>A	ENSP00000415327:p.Ala1114Val					AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V	p.A1114V			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	17	3759	-			1114					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3341C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.524635	0.96431	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.80123	-1.31;-1.34;-1.02;-1.13;-1.02;-1.16;-1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.993;0.996;0.996;0.996;0.998;0.996	D;D;D;D;D;D	0.80764	0.978;0.99;0.99;0.99;0.994;0.99	D	0.87026	0.2132	10	0.87932	D	0	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1114;1085;1054;995;1117;1024	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	1024;995;1054;1085;1054;1114;72;1085	ENSP00000318313:A1024V;ENSP00000433372:A995V;ENSP00000431926:A1054V;ENSP00000410899:A1085V;ENSP00000298834:A1054V;ENSP00000415327:A1114V;ENSP00000433945:A1085V	ENSP00000298834:A1054V	A	-	2	0	AMBRA1	46386701	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.286000	0.95898	2.677000	0.91161	0.491000	0.48974	GCC		0.632	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		34	172	0	0	0	1	0	34	172					A	46430125	G	A	46430125	3	1	79	1	0	0	0	0	1	0	0	0	565	1203	42	2	563	2	AMBRA1	11	46430125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10898	46430125	88576391	11987	22304											
HARBI1	283254	broad.mit.edu	37	chr11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgccgggccagtttgtctCcacggtcattagtgtccctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000524625.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	190						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(568-570)Gag>Aag		harbinger transposase derived 1							144	149	147					11																	46637220		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637220C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.568G>A	11.37:g.46637220C>T	ENSP00000317743:p.Glu190Lys						p.E190K	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	815	-			190					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.568G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750490	0.89753	.	.	ENSG00000180423	ENST00000326737	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.47915	0.561	T	0.67280	-0.5710	9	0.29301	T	0.29	-22.794	18.2823	0.90102	0.0:1.0:0.0:0.0	.	190	Q96MB7	HARB1_HUMAN	K	190	.	ENSP00000317743:E190K	E	-	1	0	HARBI1	46593796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.311000	0.77944	0.655000	0.94253	GAG		0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		218	787	0	0	0	1	0	218	787					T	46637220	C	T	46637220	3	4	79	1	0	0	0	0	1	0	0	0	6988	864	30	2	489	2	HARBI1	11	46637220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207095	46637220	88369296	11988	22305											
ARHGAP1	392	broad.mit.edu	37	chr11	46717607	46717607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctggttcagagcctcGctggtgtcatccaaggtcag	12	11	4	1	rs538910010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	ENST00000311956.4	-	2	148	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	17					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGAGCCTCGCTGGTGTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.0		0.001	False		,,,				2504	0.0					ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(49-51)agC>agT		Rho GTPase activating protein 1							70	54	59					11																	46717607		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46717607G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.51C>T	11.37:g.46717607G>A							p.S17S	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	2	148	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	17					D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.51C>T	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176617	0.21704	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.2	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7415	0.40420	0.3428:0.0:0.6572:0.0	.	.	.	.	X	15	.	.	R	-	1	2	ARHGAP1	46674183	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.364000	0.34171	0.614000	0.30107	-0.234000	0.12200	CGA		0.567	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		19	89	0	0	0	1	0	19	89					A	46717607	G	A	46717607	2	1	79	1	0	0	0	0	0	0	0	1	861	1078	38	1		1	ARHGAP1	11	46717607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80387	46717607	88288909	11989	22306											
ZNF408	79797	broad.mit.edu	37	chr11	46726259	46726259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttccctacactctcgCggagccctcctggcccagca	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726259C>T	ENST00000311764.2	+	5	1239	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337			R -> P (in dbSNP:rs36017347).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACACTCTCGCGGAGCCCTCC	0.612																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1009-1011)Cgg>Tgg		zinc finger protein 408							64	61	62					11																	46726259		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726259C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1009C>T	11.37:g.46726259C>T	ENSP00000309606:p.Arg337Trp						p.R337W	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1239	+			337		R -> P (in dbSNP:rs36017347).				Missense_Mutation	SNP	ENST00000311764.2	37	c.1009C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101267	0.56183	.	.	ENSG00000175213	ENST00000311764	T	0.11495	2.77	5.15	-4.77	0.03219	.	1.687110	0.04210	N	0.331573	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.06405	0.002;0.002	T	0.38693	-0.9649	10	0.44086	T	0.13	-1.3523	2.1234	0.03731	0.2313:0.3455:0.2797:0.1436	.	329;337	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	337	ENSP00000309606:R337W	ENSP00000309606:R337W	R	+	1	2	ZNF408	46682835	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.102000	0.10956	-0.517000	0.06461	0.467000	0.42956	CGG		0.612	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		10	443	0	0	0	1	0	10	443					T	46726259	C	T	46726259	3	4	79	1	0	0	0	0	1	0	0	0	17941	759	27	1	1059	1	ZNF408	11	46726259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8652	46726259	88280257	11990	22307											
ZNF408	79797	broad.mit.edu	37	chr11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctccgagctcacgagCgcctgcactccggagagagg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1711-1713)Cgc>Tgc		zinc finger protein 408							25	25	25					11																	46726961		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726961C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1711C>T	11.37:g.46726961C>T	ENSP00000309606:p.Arg571Cys						p.R571C	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1941	+			571						Missense_Mutation	SNP	ENST00000311764.2	37	c.1711C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299337	0.60195	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.29491	0.0735	M	0.79123	2.44	0.52501	D	0.999957	P;P	0.47253	0.892;0.892	B;B	0.42112	0.376;0.376	T	0.14420	-1.0473	10	0.87932	D	0	-33.5023	7.5133	0.27585	0.0:0.7036:0.1398:0.1566	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	571	ENSP00000309606:R571C	ENSP00000309606:R571C	R	+	1	0	ZNF408	46683537	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.502000	0.35704	1.205000	0.43262	0.462000	0.41574	CGC		0.652	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		34	162	0	0	0	1	0	34	162					T	46726961	C	T	46726961	3	4	79	1	0	0	0	0	1	0	0	0	17941	768	27	1	1761	1	ZNF408	11	46726961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	46726961	88279555	11991	22308											
F2	2147	broad.mit.edu	37	chr11	46744800	46744800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggtcaggcattgagtgCcagctatggaggagtcgcta	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCATTGAGTGCCAGCTATGGA	0.607																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(385-387)tgC>tgT		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						122	115	118					11																	46744800		2201	4299	6500	SO:0001819	synonymous_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46744800C>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.387C>T	11.37:g.46744800C>T						F2_ENST00000530231.1_Silent_p.C129C	p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	5	443	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	129			Kringle 1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	37	c.387C>T	CCDS31476.1																																																																																				0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			33	741	0	0	0	1	0	33	741					T	46744800	C	T	46744800	2	4	79	1	0	0	0	0	0	0	0	1	5360	747	26	2		2	F2	11	46744800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17839	46744800	88261716	11992	22309											
CKAP5	9793	broad.mit.edu	37	chr11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctccatctcaatcacccGaaggcctctttcgacatagc	5	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5653-5655)Cgg>Tgg		cytoskeleton associated protein 5							110	106	107					11																	46771875		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46771875G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5653C>T	11.37:g.46771875G>A	ENSP00000432768:p.Arg1885Trp					CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W	p.R1885W			Q14008	CKAP5_HUMAN			42	5699	-			1885					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5653C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.899108|3.899108	0.72754|0.72754	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.49720|.	0.8;0.8;0.77;0.77|.	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.989;0.996;0.99|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.87932|.	D|.	0|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	W|L	1885;1892;1825;1825|123	ENSP00000432768:R1885W;ENSP00000395302:R1892W;ENSP00000310227:R1825W;ENSP00000346566:R1825W|.	ENSP00000310227:R1825W|.	R|S	-|-	1|2	2|0	CKAP5|CKAP5	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG		0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		79	367	0	0	0	1	0	79	367					A	46771875	G	A	46771875	3	1	79	1	0	0	0	0	1	0	0	0	3454	1057	37	1	457	1	CKAP5	11	46771875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27075	46771875	88234641	11993	22310											
CKAP5	9793	broad.mit.edu	37	chr11	46784532	46784532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaccacattaccttgacGacaagataggggatgaagga	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	CKAP5_ENST00000354558.3_Silent_p.V1295V|CKAP5_ENST00000312055.5_Silent_p.V1295V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1295					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTACCTTGACGACAAGATAGG	0.383																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3883-3885)gtC>gtT		cytoskeleton associated protein 5							111	102	105					11																	46784532		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46784532G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3885C>T	11.37:g.46784532G>A						CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000354558.3_Silent_p.V1295V|CKAP5_ENST00000415402.1_Silent_p.V1295V	p.V1295V			Q14008	CKAP5_HUMAN			30	3931	-			1295					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.3885C>T	CCDS31477.1																																																																																				0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		12	380	0	0	0	1	0	12	380					A	46784532	G	A	46784532	2	1	79	1	0	0	0	0	0	0	0	1	3454	1045	37	1		1	CKAP5	11	46784532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12657	46784532	88221984	11994	22311											
CKAP5	9793	broad.mit.edu	37	chr11	46800054	46800054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgacatcattgctcccGtcatctggttcatctccatc	5	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000354558.3_Silent_p.D843D|CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	843					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2527-2529)gaC>gaT		cytoskeleton associated protein 5							260	217	231					11																	46800054		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46800054G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2529C>T	11.37:g.46800054G>A						CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D	p.D843D			Q14008	CKAP5_HUMAN			21	2575	-			843					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2529C>T	CCDS31477.1																																																																																				0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		118	558	0	0	0	1	0	118	558					A	46800054	G	A	46800054	2	1	79	1	0	0	0	0	0	0	0	1	3454	1136	40	1		1	CKAP5	11	46800054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15522	46800054	88206462	11995	22312											
LRP4	4038	broad.mit.edu	37	chr11	46911059	46911059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcgtgcagcctccGttgttgtccccacagcggtt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2116-2118)aaC>aaT		low density lipoprotein receptor-related protein 4							75	72	73					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911059G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2118C>T	11.37:g.46911059G>A			OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.N706N	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	16	2360	-			706			EGF-like 3.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.2118C>T	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		113	450	0	0	0	1	0	113	450					A	46911059	G	A	46911059	2	1	79	1	0	0	0	0	0	0	0	1	8997	1136	40	1		1	LRP4	11	46911059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111005	46911059	88095457	11996	22313											
LRP4	4038	broad.mit.edu	37	chr11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagattggccacctcaatcCtcgaggtgcctgagtcggtc	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	534					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTCAATCCTCGAGGTGCC	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1600-1602)aGg>aTg		low density lipoprotein receptor-related protein 4							51	46	48					11																	46914620		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46914620C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1601G>T	11.37:g.46914620C>A	ENSP00000367888:p.Arg534Met						p.R534M	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	13	1843	-			534					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1601G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047028	0.93740	.	.	ENSG00000134569	ENST00000378623	D	0.95980	-3.87	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	534	O75096	LRP4_HUMAN	M	534	ENSP00000367888:R534M	ENSP00000367888:R534M	R	-	2	0	LRP4	46871196	1.000000	0.71417	0.974000	0.42286	0.902000	0.53008	7.487000	0.81328	2.707000	0.92482	0.561000	0.74099	AGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		32	145	1	0	3.76114e-14	1	4.07806e-14	32	145					A	46914620	C	A	46914620	3	1	79	1	0	0	0	0	1	0	0	0	8997	681	24	3	4220	3	LRP4	11	46914620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3561	46914620	88091896	11997	22314											
LRP4	4038	broad.mit.edu	37	chr11	46917842	46917842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctgcccaatgcagcGcccattccaacacaggaact	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46917842G>A	ENST00000378623.1	-	9	1209	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	323	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCAATGCAGCGCCCATTCCAA	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(967-969)Cgc>Tgc		low density lipoprotein receptor-related protein 4							94	88	90					11																	46917842		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917842G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.967C>T	11.37:g.46917842G>A	ENSP00000367888:p.Arg323Cys						p.R323C	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1209	-			323			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.967C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292347	0.95546	.	.	ENSG00000134569	ENST00000378623	T	0.42513	0.97	5.96	5.96	0.96718	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.60642	-0.7223	10	0.59425	D	0.04	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	323	O75096	LRP4_HUMAN	C	323	ENSP00000367888:R323C	ENSP00000367888:R323C	R	-	1	0	LRP4	46874418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.824000	0.97209	0.655000	0.94253	CGC		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	486	0	0	0	1	0	8	486					A	46917842	G	A	46917842	3	1	79	1	0	0	0	0	1	0	0	0	8997	1087	38	1	4870	1	LRP4	11	46917842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3222	46917842	88088674	11998	22315											
LRP4	4038	broad.mit.edu	37	chr11	46920210	46920210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacatgaactccccagagCggcagggctggtgggaggct	15	12	0	2	rs370407081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46920210C>A	ENST00000378623.1	-	7	937	c.695G>T	c.(694-696)cGc>cTc	p.R232L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	232	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCCCCAGAGCGGCAGGGCTG	0.592																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(694-696)cGc>cTc		low density lipoprotein receptor-related protein 4							145	140	142					11																	46920210		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920210C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.695G>T	11.37:g.46920210C>A	ENSP00000367888:p.Arg232Leu						p.R232L	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	7	937	-			232			LDL-receptor class A 6.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.695G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034911	0.75617	.	.	ENSG00000134569	ENST00000378623	D	0.95554	-3.74	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	L	0.31578	0.945	0.58432	D	0.999998	P;B	0.48089	0.905;0.092	P;B	0.50934	0.654;0.154	D	0.92893	0.6333	10	0.26408	T	0.33	.	19.11	0.93313	0.0:1.0:0.0:0.0	.	277;232	C9JRN7;O75096	.;LRP4_HUMAN	L	232	ENSP00000367888:R232L	ENSP00000367888:R232L	R	-	2	0	LRP4	46876786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.530000	0.85305	0.561000	0.74099	CGC		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		16	1002	1	0	1.05317e-09	1	1.11087e-09	16	1002					A	46920210	C	A	46920210	3	1	79	1	0	0	0	0	1	0	0	0	8997	768	27	3	5150	3	LRP4	11	46920210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2368	46920210	88086306	11999	22316											
NR1H3	10062	broad.mit.edu	37	chr11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggtggagctgtggaagCcaggcgcacaggatgcaagc	17	10	0	0	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	23					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(67-69)Cca>Tca		nuclear receptor subfamily 1, group H, member 3							35	36	36					11																	47281365		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281365C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.67C>T	11.37:g.47281365C>T	ENSP00000420656:p.Pro23Ser		OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S	p.P23S			Q13133	NR1H3_HUMAN			2	1305	+			23					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.67C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321402	0.23994	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.66	0.0326	0.14176	.	0.500830	0.18336	N	0.144325	T	0.16685	0.0401	N	0.08118	0	0.27865	N	0.940246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.08330	-1.0727	10	0.34782	T	0.22	.	2.013	0.03492	0.1397:0.3331:0.344:0.1831	.	29;23;23	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	S	23	ENSP00000403798:P23S;ENSP00000385801:P23S;ENSP00000391005:P23S;ENSP00000413095:P23S;ENSP00000415591:P23S;ENSP00000387946:P23S;ENSP00000396132:P23S;ENSP00000403696:P23S;ENSP00000420656:P23S;ENSP00000384745:P23S	ENSP00000384745:P23S	P	+	1	0	NR1H3	47237941	0.049000	0.20398	0.280000	0.24747	0.467000	0.32768	-0.834000	0.04391	0.027000	0.15297	0.462000	0.41574	CCA		0.652	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			43	244	0	0	0	1	0	43	244					T	47281365	C	T	47281365	3	4	79	1	0	0	0	0	1	0	0	0	10660	739	26	2	73	2	NR1H3	11	47281365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361155	47281365	87725151	12000	22317											
NR1H3	10062	broad.mit.edu	37	chr11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgtgtggggacaagGcctcgggcttccactacaat	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	105					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(313-315)Gcc>Acc		nuclear receptor subfamily 1, group H, member 3							73	66	69					11																	47282040		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282040G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.313G>A	11.37:g.47282040G>A	ENSP00000420656:p.Ala105Thr					NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T	p.A105T			Q13133	NR1H3_HUMAN			3	1551	+			105					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.313G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223251	0.95139	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.35	5.35	0.76521	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.99782	1.1028	10	0.87932	D	0	.	19.4242	0.94734	0.0:0.0:1.0:0.0	.	111;60;105;60;105	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	60;60;60;105;105;105;60;105;105;105;105;105;14	ENSP00000378793:A60T;ENSP00000385073:A60T;ENSP00000433271:A60T;ENSP00000403798:A105T;ENSP00000385801:A105T;ENSP00000391005:A105T;ENSP00000412636:A60T;ENSP00000415591:A105T;ENSP00000387946:A105T;ENSP00000403696:A105T;ENSP00000420656:A105T;ENSP00000384745:A105T;ENSP00000432073:A14T	ENSP00000378793:A60T	A	+	1	0	NR1H3	47238616	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.416000	0.97383	2.653000	0.90120	0.462000	0.41574	GCC		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			76	334	0	0	0	1	0	76	334					A	47282040	G	A	47282040	3	1	79	1	0	0	0	0	1	0	0	0	10660	1203	42	2	323	2	NR1H3	11	47282040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	47282040	87724476	12001	22318											
MADD	8567	broad.mit.edu	37	chr11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgcatgagccttcGggatgatacctcttttgtct	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000311027.5	+	3	380	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000342922.4_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000545474.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGAGCCTTCGGGATGATACC	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(214-216)cGg>cAg		MAP-kinase activating death domain							145	142	143					11																	47296266		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296266G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.215G>A	11.37:g.47296266G>A	ENSP00000310933:p.Arg72Gln					MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000311027.5_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q	p.R72Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	572	+			72			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.215G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289652	0.97444	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	uDENN (3);	0.054564	0.85682	D	0.000000	T	0.68201	0.2975	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D;P;D;D;D	0.91635	0.999;0.967;0.997;0.955;0.97;0.97;0.89;0.996;0.951;0.944	T	0.67201	-0.5730	10	0.66056	D	0.02	-19.198	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;72;72;72;72;72;72;72;72	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	72	ENSP00000343902:R72Q;ENSP00000385585:R72Q;ENSP00000384435:R72Q;ENSP00000304505:R72Q;ENSP00000310933:R72Q;ENSP00000384204:R72Q;ENSP00000378753:R72Q;ENSP00000413116:R72Q;ENSP00000378745:R72Q;ENSP00000384287:R72Q;ENSP00000402364:R72Q	ENSP00000310933:R72Q	R	+	2	0	MADD	47252842	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGG		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			233	942	0	0	0	1	0	233	942					A	47296266	G	A	47296266	3	1	79	1	0	0	0	0	1	0	0	0	9191	1116	39	1	221	1	MADD	11	47296266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14226	47296266	87710250	12002	22319											
MADD	8567	broad.mit.edu	37	chr11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatggcatctgtgttaacttCtaccgctccttccaaaagcg	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000311027.5	+	3	456	c.291C>A	c.(289-291)ttC>ttA	p.F97L	MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000342922.4_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000545474.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTAACTTCTACCGCTCCT	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(289-291)ttC>ttA		MAP-kinase activating death domain							73	73	73					11																	47296342		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296342C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.291C>A	11.37:g.47296342C>A	ENSP00000310933:p.Phe97Leu					MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000311027.5_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L	p.F97L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	648	+			97			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.291C>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219854	0.95139	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;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;0.82	6.17	6.17	0.99709	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.88450	2.955	0.80722	D	1	D;P;P;D;D;D;D;D;D;D	0.69078	0.966;0.898;0.925;0.987;0.987;0.987;0.993;0.996;0.993;0.997	P;P;P;P;P;P;D;D;D;D	0.81914	0.779;0.823;0.804;0.891;0.891;0.891;0.98;0.99;0.962;0.995	T	0.77115	-0.2707	9	.	.	.	-20.1197	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97;97;97;97;97;97;97;97;97;97	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	97	ENSP00000343902:F97L;ENSP00000385585:F97L;ENSP00000384435:F97L;ENSP00000304505:F97L;ENSP00000310933:F97L;ENSP00000384204:F97L;ENSP00000378753:F97L;ENSP00000413116:F97L;ENSP00000378745:F97L;ENSP00000384287:F97L;ENSP00000402364:F97L	.	F	+	3	2	MADD	47252918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	TTC		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			116	415	1	0	7.59108e-50	1	9.39492e-50	116	415					A	47296342	C	A	47296342	3	1	79	1	0	0	0	0	1	0	0	0	9191	912	32	3	297	3	MADD	11	47296342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	47296342	87710174	12003	22320											
MYBPC3	4607	broad.mit.edu	37	chr11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcgtggccttgtcCtccatgttctcaatgcgcac	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1053	Ig-like C2-type 6.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(3157-3159)gaG>gaT		myosin binding protein C, cardiac							70	75	73					11																	47355139		2178	4257	6435	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47355139C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3159G>T	11.37:g.47355139C>A	ENSP00000442795:p.Glu1053Asp					MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D|MYBPC3_ENST00000545968.1_Missense_Mutation_p.E1053D	p.E1053D			Q14896	MYPC3_HUMAN		Lung(87;0.176)	28	3213	-			1052			Ig-like C2-type 6.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.3159G>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642978	0.67244	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.69435	-0.4;-0.4;-0.4	5.22	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69851	0.3157	M	0.80982	2.52	0.42771	D	0.993839	P	0.37015	0.578	P	0.45712	0.491	T	0.65187	-0.6229	9	0.19590	T	0.45	.	8.5207	0.33273	0.2191:0.6975:0.0:0.0834	.	1052	Q14896	MYPC3_HUMAN	D	1053;1053;1052	ENSP00000442795:E1053D;ENSP00000382193:E1053D;ENSP00000256993:E1052D	ENSP00000256993:E1052D	E	-	3	2	MYBPC3	47311715	0.983000	0.35010	1.000000	0.80357	0.974000	0.67602	0.206000	0.17375	1.198000	0.43158	0.484000	0.47621	GAG		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			51	221	1	0	3.68337e-26	1	4.24002e-26	51	221					A	47355139	C	A	47355139	3	1	79	1	0	0	0	0	1	0	0	0	10054	680	24	3	689	3	MYBPC3	11	47355139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58797	47355139	87651377	12004	22321											
MYBPC3	4607	broad.mit.edu	37	chr11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgacctggtcctcgcCcacagggttcttcactgtga	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S|MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	758	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2272-2274)Ggc>Agc		myosin binding protein C, cardiac							94	96	95					11																	47360107		2100	4211	6311	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360107C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2272G>A	11.37:g.47360107C>T	ENSP00000442795:p.Gly758Ser					MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G758S	p.G758S			Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2326	-			757		E -> D (in CMH4).	Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2272G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591283	0.96590	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.82711	-1.64;-1.64;-1.64	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92328	0.7566	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.93224	0.6611	9	0.87932	D	0	.	19.209	0.93747	0.0:1.0:0.0:0.0	.	757	Q14896	MYPC3_HUMAN	S	758;758;757	ENSP00000442795:G758S;ENSP00000382193:G758S;ENSP00000256993:G757S	ENSP00000256993:G757S	G	-	1	0	MYBPC3	47316683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.469000	0.80959	2.536000	0.85505	0.563000	0.77884	GGC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			41	209	0	0	0	1	0	41	209					T	47360107	C	T	47360107	3	4	79	1	0	0	0	0	1	0	0	0	10054	623	22	2	1600	2	MYBPC3	11	47360107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4968	47360107	87646409	12005	22322											
MYBPC3	4607	broad.mit.edu	37	chr11	47364609	47364609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctacacttctcgccaccCaccacgcactggtaggctgc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000256993.4_Silent_p.V437V|MYBPC3_ENST00000399249.2_Silent_p.V438V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	438	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(1312-1314)gtG>gtA		myosin binding protein C, cardiac							46	51	49					11																	47364609		2137	4243	6380	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364609C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1314G>A	11.37:g.47364609C>T						MYBPC3_ENST00000256993.4_Silent_p.V437V|MYBPC3_ENST00000545968.1_Silent_p.V438V	p.V438V			Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1368	-			437			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.1314G>A	CCDS53621.1																																																																																				0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			17	94	0	0	0	1	0	17	94					T	47364609	C	T	47364609	2	4	79	1	0	0	0	0	0	0	0	1	10054	581	21	2		2	MYBPC3	11	47364609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4502	47364609	87641907	12006	22323											
MYBPC3	4607	broad.mit.edu	37	chr11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggctggcgccggccaCgcgggctgagaaggtgatgc	19	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	178	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(532-534)Gtg>Atg		myosin binding protein C, cardiac							25	31	29					11																	47371447		2071	4202	6273	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47371447C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.532G>A	11.37:g.47371447C>T	ENSP00000442795:p.Val178Met					MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M|MYBPC3_ENST00000545968.1_Missense_Mutation_p.V178M	p.V178M			Q14896	MYPC3_HUMAN		Lung(87;0.176)	5	586	-			178			Ig-like C2-type 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.532G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427436	0.83667	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.75154	-0.91;-0.91;-0.91	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88134	0.6355	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90470	0.4452	9	0.87932	D	0	.	18.2122	0.89874	0.0:1.0:0.0:0.0	.	178	Q14896	MYPC3_HUMAN	M	178	ENSP00000442795:V178M;ENSP00000382193:V178M;ENSP00000256993:V178M	ENSP00000256993:V178M	V	-	1	0	MYBPC3	47328023	1.000000	0.71417	0.827000	0.32855	0.625000	0.37756	4.934000	0.63491	2.385000	0.81259	0.462000	0.41574	GTG		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			11	57	0	0	0	1	0	11	57					T	47371447	C	T	47371447	3	4	79	1	0	0	0	0	1	0	0	0	10054	536	19	1	3405	1	MYBPC3	11	47371447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6838	47371447	87635069	12007	22324											
SPI1	6688	broad.mit.edu	37	chr11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccagctccatgtggCggtagagctgctgcagctgc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000378538.3	-	3	479	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	86					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(256-258)cGc>cAc		spleen focus forming virus (SFFV) proviral integration oncogene							57	48	51					11																	47381477		2200	4298	6498	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47381477C>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"hematopoietic transcription factor PU.1", "31 kDa transforming protein"	165170	"spleen focus forming virus (SFFV) proviral integration oncogene"			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.257G>A	11.37:g.47381477C>T	ENSP00000367799:p.Arg86His					SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	479	-			86						Missense_Mutation	SNP	ENST00000378538.3	37	c.257G>A	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082220	0.76528	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.22336	1.96;1.97	3.59	3.59	0.41128	.	0.064020	0.64402	D	0.000012	T	0.42562	0.1208	M	0.75777	2.31	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.71184	0.966;0.84;0.972	T	0.37663	-0.9696	10	0.15499	T	0.54	-27.9195	15.7696	0.78157	0.0:1.0:0.0:0.0	.	86;86;87	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	H	86;87;86	ENSP00000367799:R86H;ENSP00000227163:R87H	ENSP00000227163:R87H	R	-	2	0	SPI1	47338053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.985000	0.57927	0.655000	0.94253	CGC		0.657	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		25	212	0	0	0	1	0	25	212					T	47381477	C	T	47381477	3	4	79	1	0	0	0	0	1	0	0	0	15101	768	27	1	567	1	SPI1	11	47381477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10030	47381477	87625039	12008	22325											
SLC39A13	91252	broad.mit.edu	37	chr11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccccactgctgctgccGccgcgctcaatggaggccac	11	17	1	1	rs574886559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000362021.4	+	5	610	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	190	Poly-Ala.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15264	0.0		0.0	False		,,,				2504	0.001					ENST00000524928.1																			0				breast(1)|kidney(1)|lung(1)|prostate(1)	4						c.(568-570)Gcc>Acc		solute carrier family 39 (zinc transporter), member 13							31	33	32					11																	47434981		2201	4298	6499	SO:0001583	missense	91252				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr11:47434981G>A		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.568G>A	11.37:g.47434981G>A	ENSP00000354689:p.Ala190Thr					SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR	p.A190T			Q96H72	S39AD_HUMAN		Lung(87;0.0936)	4	578	+			190			Poly-Ala.		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	c.568G>A	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	4.021	0.001430	0.07819	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.93	1.96	0.26148	.	2.703060	0.00757	N	0.001107	T	0.29524	0.0736	N	0.25332	0.735	0.09310	N	1	B;B;P	0.34724	0.012;0.012;0.465	B;B;B	0.25405	0.02;0.002;0.06	T	0.12553	-1.0543	10	0.14252	T	0.57	-17.1502	3.3102	0.07014	0.0975:0.1991:0.5393:0.164	.	190;190;190	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	190	ENSP00000434290:A190T;ENSP00000354689:A190T;ENSP00000346956:A190T;ENSP00000432499:A190T;ENSP00000437186:A190T	ENSP00000346956:A190T	A	+	1	0	SLC39A13	47391557	0.042000	0.20092	0.004000	0.12327	0.034000	0.12701	1.262000	0.32992	0.121000	0.18284	0.455000	0.32223	GCC		0.672	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		60	276	0	0	0	1	0	60	276					A	47434981	G	A	47434981	3	1	79	1	0	0	0	0	1	0	0	0	14666	1087	38	1	582	1	SLC39A13	11	47434981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53504	47434981	87571535	12009	22326											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgctctggctctgcatctCgcggcgccgcgacgcgccgt	13	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	268	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTCTGCATCTCGCGGCGCCGC	0.677																																						ENST00000302514.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(802-804)Gag>Aag		C1q and tumor necrosis factor related protein 4							52	62	59					11																	47611561		2200	4296	6496	SO:0001583	missense	114900					extracellular region		g.chr11:47611561C>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 4"	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.802G>A	11.37:g.47611561C>T	ENSP00000302274:p.Glu268Lys						p.E268K	NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN			2	1318	-			268			C1q 2.		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	c.802G>A	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966121	0.92855	.	.	ENSG00000172247	ENST00000302514	D	0.85955	-2.05	4.27	3.34	0.38264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.069186	0.56097	U	0.000022	T	0.78805	0.4341	L	0.43598	1.365	0.49213	D	0.999766	P	0.47034	0.889	B	0.38712	0.28	T	0.77308	-0.2636	10	0.38643	T	0.18	.	14.2981	0.66329	0.0:0.85:0.15:0.0	.	268	Q9BXJ3	C1QT4_HUMAN	K	268	ENSP00000302274:E268K	ENSP00000302274:E268K	E	-	1	0	C1QTNF4	47568137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.836000	0.69375	0.878000	0.35920	0.462000	0.41574	GAG		0.677	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		19	207	0	0	0	1	0	19	207					T	47611561	C	T	47611561	3	4	79	1	0	0	0	0	1	0	0	0	1972	893	31	1	191	1	C1QTNF4	11	47611561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176580	47611561	87394955	12010	22327											
MTCH2	23788	broad.mit.edu	37	chr11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagacgtatatattggggaGtaaggagggcatccaccagc	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	258					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)taC>taA		mitochondrial carrier 2							70	65	67					11																	47644304		2201	4297	6498	SO:0001587	stop_gained	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47644304G>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.774C>A	11.37:g.47644304G>T	ENSP00000303222:p.Tyr258*					MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*|MTCH2_ENST00000534074.1_5'UTR	p.Y258*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			12	931	-			258					B2R7L8	Nonsense_Mutation	SNP	ENST00000302503.3	37	c.774C>A	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637882	0.96693	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	.	.	.	5.82	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8946	6.5142	0.22239	0.4954:0.0:0.5046:0.0	.	.	.	.	X	258;110;249	.	ENSP00000303222:Y258X	Y	-	3	2	MTCH2	47600880	0.988000	0.35896	1.000000	0.80357	0.970000	0.65996	0.071000	0.14594	0.376000	0.24707	0.561000	0.74099	TAC		0.333	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		35	168	1	0	1.47244e-24	1	1.6848e-24	35	168					T	47644304	G	T	47644304	4	4	79	1	0	0	0	0	0	1	0	0	9955	1024	36	3	145	3	MTCH2	11	47644304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32743	47644304	87362212	12011	22328											
MTCH2	23788	broad.mit.edu	37	chr11	47657112	47657112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catacctcacccttgtcactCtcctggtaatgctatagaaa	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	97					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(289-291)gaG>gaA		mitochondrial carrier 2							179	147	158					11																	47657112		2201	4298	6499	SO:0001819	synonymous_variant	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47657112C>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.291G>A	11.37:g.47657112C>T						MTCH2_ENST00000542981.1_5'UTR	p.E97E	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			4	448	-			97					B2R7L8	Silent	SNP	ENST00000302503.3	37	c.291G>A	CCDS7943.1																																																																																				0.393	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		40	228	0	0	0	1	0	40	228					T	47657112	C	T	47657112	2	4	79	1	0	0	0	0	0	0	0	1	9955	912	32	2		2	MTCH2	11	47657112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12808	47657112	87349404	12012	22329											
AGBL2	79841	broad.mit.edu	37	chr11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccattcaacaggcattgaGggttattcttccgaacatgc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000525123.1	-	4	440	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	52						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P52H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433																																						ENST00000525123.1																			1	Substitution - Missense(1)	p.P52H(1)	lung(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(154-156)cCt>cAt		ATP/GTP binding protein-like 2							135	125	129					11																	47732006		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47732006G>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.155C>A	11.37:g.47732006G>T	ENSP00000435582:p.Pro52His					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H	p.P52H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			4	440	-			52					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.155C>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179860	0.38511	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.82	4.82	0.62117	.	0.733796	0.12627	N	0.452554	T	0.57636	0.2067	M	0.67953	2.075	0.22412	N	0.999123	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56514	0.8;0.707;0.707	T	0.51949	-0.8640	10	0.87932	D	0	-3.1881	13.4672	0.61260	0.0:0.0:1.0:0.0	.	52;52;52	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	H	52;52;52;52;52;52;32;52	ENSP00000435582:P52H;ENSP00000350228:P52H;ENSP00000298861:P52H;ENSP00000436630:P52H;ENSP00000436063:P52H;ENSP00000432264:P32H;ENSP00000436518:P52H	ENSP00000298861:P52H	P	-	2	0	AGBL2	47688582	1.000000	0.71417	0.148000	0.22405	0.069000	0.16628	4.127000	0.57944	2.239000	0.73571	0.585000	0.79938	CCT		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		83	393	1	0	4.18771e-30	1	4.90557e-30	83	393					T	47732006	G	T	47732006	3	4	79	1	0	0	0	0	1	0	0	0	376	1000	35	3	2617	3	AGBL2	11	47732006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74894	47732006	87274510	12013	22330											
AGBL2	79841	broad.mit.edu	37	chr11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaggtgacggtacataAagtcttcataaggatcagga	12	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000525123.1	-	3	344	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	20						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(58-60)tTt>tGt		ATP/GTP binding protein-like 2							124	113	117					11																	47735874		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47735874A>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.59T>G	11.37:g.47735874A>C	ENSP00000435582:p.Phe20Cys					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C	p.F20C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			3	344	-			20					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.59T>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276428	0.80580	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.76	4.76	0.60689	.	0.244339	0.35151	N	0.003404	T	0.54679	0.1873	M	0.72894	2.215	0.37178	D	0.903382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.972;0.996	T	0.65792	-0.6082	10	0.87932	D	0	-22.7366	14.5772	0.68258	1.0:0.0:0.0:0.0	.	20;20;20	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	C	20	ENSP00000435582:F20C;ENSP00000350228:F20C;ENSP00000298861:F20C;ENSP00000436630:F20C;ENSP00000436063:F20C;ENSP00000436518:F20C;ENSP00000431835:F20C	ENSP00000298861:F20C	F	-	2	0	AGBL2	47692450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.886000	0.75611	1.914000	0.55421	0.533000	0.62120	TTT		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		79	280	0	0	0	1	0	79	280					C	47735874	A	C	47735874	3	2	79	1	0	0	0	0	1	0	0	0	376	14	1	4	2717	4	AGBL2	11	47735874	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3868	47735874	87270642	12014	22331											
FNBP4	23360	broad.mit.edu	37	chr11	47772826	47772826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagacttcctgccaatcGcccatctcaattccgactag	5	17	1	1	rs181295298	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	218	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.0					ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(652-654)ggC>ggT		formin binding protein 4		G		3,3751		0,3,1874	115	105	108		654	4.3	1	11		108	0,8220		0,0,4110	no	coding-synonymous	FNBP4	NM_015308.2		0,3,5984	AA,AG,GG		0.0,0.0799,0.0251		218/1018	47772826	3,11971	1877	4110	5987	SO:0001819	synonymous_variant	23360							g.chr11:47772826G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.654C>T	11.37:g.47772826G>A						FNBP4_ENST00000534003.1_5'UTR	p.G218G	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			5	666	-			218			WW 1.		Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	c.654C>T	CCDS41644.1																																																																																				0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			99	467	0	0	0	1	0	99	467					A	47772826	G	A	47772826	2	1	79	1	0	0	0	0	0	0	0	1	5992	1074	38	1		1	FNBP4	11	47772826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36952	47772826	87233690	12015	22332											
NUP160	23279	broad.mit.edu	37	chr11	47806599	47806599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtggataatagtcgccAtgcttcatctgtagcacttg	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47806599A>G	ENST00000378460.2	-	33	3911	c.3865T>C	c.(3865-3867)Tgg>Cgg	p.W1289R	NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1289					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AATAGTCGCCATGCTTCATCT	0.378																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3865-3867)Tgg>Cgg		nucleoporin 160kDa							122	106	111					11																	47806599		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47806599A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3865T>C	11.37:g.47806599A>G	ENSP00000367721:p.Trp1289Arg					NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	p.W1289R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			33	3911	-			1289					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3865T>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379224	0.82682	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.78481	0.06;-1.18	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90491	0.4467	10	0.87932	D	0	.	16.2364	0.82377	1.0:0.0:0.0:0.0	.	1289	Q12769	NU160_HUMAN	R	1289;1175	ENSP00000367721:W1289R;ENSP00000433590:W1175R	ENSP00000367721:W1289R	W	-	1	0	NUP160	47763175	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.414000	0.90238	2.238000	0.73509	0.477000	0.44152	TGG		0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		7	334	0	0	0	1	0	7	334					G	47806599	A	G	47806599	3	3	79	1	0	0	0	0	1	0	0	0	10799	217	8	4	461	4	NUP160	11	47806599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33773	47806599	87199917	12016	22333											
NUP160	23279	broad.mit.edu	37	chr11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccccatttaatgaggtAataagataagagtaggggag	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	774					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(2320-2322)Tac>Cac		nucleoporin 160kDa							105	94	98					11																	47830003		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47830003A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2320T>C	11.37:g.47830003A>G	ENSP00000367721:p.Tyr774His					NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	p.Y774H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			18	2366	-			774					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2320T>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543547	0.45280	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51071	1.31;0.74;0.72	5.93	1.11	0.20524	.	0.683244	0.15228	N	0.273568	T	0.29028	0.0721	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06752	-1.0809	10	0.17832	T	0.49	.	9.0481	0.36358	0.7124:0.0:0.2876:0.0	.	774	Q12769	NU160_HUMAN	H	774;660;660	ENSP00000367721:Y774H;ENSP00000433590:Y660H;ENSP00000432367:Y660H	ENSP00000367721:Y774H	Y	-	1	0	NUP160	47786579	0.971000	0.33674	0.663000	0.29738	0.978000	0.69477	2.055000	0.41345	-0.051000	0.13334	0.528000	0.53228	TAC		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		55	260	0	0	0	1	0	55	260					G	47830003	A	G	47830003	3	3	79	1	0	0	0	0	1	0	0	0	10799	362	13	4	2066	4	NUP160	11	47830003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23404	47830003	87176513	12017	22334											
NUP160	23279	broad.mit.edu	37	chr11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagatgaaggcatcatGctccacacaatgaacagcaa	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	295					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(883-885)Cat>Tat		nucleoporin 160kDa							176	153	161					11																	47858498		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47858498G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.883C>T	11.37:g.47858498G>A	ENSP00000367721:p.His295Tyr					NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y	p.H295Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			6	929	-			295					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.883C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626640	0.66901	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42900	0.96;0.96;0.96	5.5	3.61	0.41365	.	0.240232	0.43260	D	0.000584	T	0.44993	0.1320	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.47626	0.552	T	0.28106	-1.0054	10	0.13108	T	0.6	.	14.7893	0.69827	0.0:0.0:0.7366:0.2633	.	295	Q12769	NU160_HUMAN	Y	295;45;181;181	ENSP00000367721:H295Y;ENSP00000433590:H181Y;ENSP00000432367:H181Y	ENSP00000367721:H295Y	H	-	1	0	NUP160	47815074	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	4.345000	0.59360	0.667000	0.31107	0.655000	0.94253	CAT		0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		57	234	0	0	0	1	0	57	234					A	47858498	G	A	47858498	3	1	79	1	0	0	0	0	1	0	0	0	10799	1319	46	2	3551	2	NUP160	11	47858498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28495	47858498	87148018	12018	22335											
PTPRJ	5795	broad.mit.edu	37	chr11	48149438	48149438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatctaactatacctacaaGatacatgtggcgggggagac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48149438G>A	ENST00000418331.2	+	7	1552	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PTPRJ_ENST00000440289.2_Silent_p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	400	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACCTACAAGATACATGTGG	0.517																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1198-1200)aaG>aaA		protein tyrosine phosphatase, receptor type, J							165	138	147					11																	48149438		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149438G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1200G>A	11.37:g.48149438G>A						PTPRJ_ENST00000440289.2_Silent_p.K400K	p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			7	1552	+			400			Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1200G>A	CCDS7945.1																																																																																				0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			23	560	0	0	0	1	0	23	560					A	48149438	G	A	48149438	2	1	79	1	0	0	0	0	0	0	0	1	12854	933	33	2		2	PTPRJ	11	48149438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290940	48149438	86857078	12019	22336											
PTPRJ	5795	broad.mit.edu	37	chr11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggagcctggaacaAtgcgacccacctggagagct	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	761	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGAACAATGCGACCCAC	0.537																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2281-2283)aAt>aGt		protein tyrosine phosphatase, receptor type, J							91	85	87					11																	48161167		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161167A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2282A>G	11.37:g.48161167A>G	ENSP00000400010:p.Asn761Ser						p.N761S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			11	2634	+			761			Fibronectin type-III 8.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2282A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	9.835	1.189538	0.21954	.	.	ENSG00000149177	ENST00000418331	T	0.52057	0.68	5.29	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39627	0.1085	M	0.65975	2.015	0.09310	N	0.999999	B	0.25850	0.136	B	0.19391	0.025	T	0.30238	-0.9985	9	0.14252	T	0.57	.	7.4039	0.26979	0.7336:0.0:0.2664:0.0	.	761	Q12913	PTPRJ_HUMAN	S	761	ENSP00000400010:N761S	ENSP00000400010:N761S	N	+	2	0	PTPRJ	48117743	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.839000	0.27586	0.321000	0.23259	-0.256000	0.11100	AAT		0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			45	219	0	0	0	1	0	45	219					G	48161167	A	G	48161167	3	3	79	1	0	0	0	0	1	0	0	0	12854	101	4	4	2333	4	PTPRJ	11	48161167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11729	48161167	86845349	12020	22337											
OR4X2	119764	broad.mit.edu	37	chr11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactttctcccaaccaGgaggtgcagagggtttgctt	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(37-39)caG>caT		olfactory receptor, family 4, subfamily X, member 2							179	148	159					11																	48266694		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266694G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.39G>T	11.37:g.48266694G>T	ENSP00000307751:p.Gln13His						p.Q13H	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	87	+			13					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.39G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290542	0.10567	.	.	ENSG00000172208	ENST00000302329	T	0.02974	4.09	5.37	-0.423	0.12325	.	1.300900	0.05306	N	0.523901	T	0.03053	0.0090	N	0.16602	0.42	0.09310	N	1	P	0.38148	0.62	B	0.40659	0.336	T	0.49476	-0.8936	10	0.87932	D	0	.	8.6846	0.34229	0.4934:0.0:0.5066:0.0	.	13	Q8NGF9	OR4X2_HUMAN	H	13	ENSP00000307751:Q13H	ENSP00000307751:Q13H	Q	+	3	2	OR4X2	48223270	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.585000	0.00903	0.000000	0.14550	-0.143000	0.13931	CAG		0.448	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		128	527	1	0	5.03133e-54	1	6.27689e-54	128	527					T	48266694	G	T	48266694	3	4	79	1	0	0	0	0	1	0	0	0	11127	991	35	3	41	3	OR4X2	11	48266694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105527	48266694	86739822	12021	22338											
OR4X2	119764	broad.mit.edu	37	chr11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtccttgtaggaataGcatgggtgggaggcttcatg	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(418-420)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							224	184	198					11																	48267073		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267073G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.418G>T	11.37:g.48267073G>T	ENSP00000307751:p.Ala140Ser						p.A140S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	466	+			140					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.418G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957308	0.34565	.	.	ENSG00000172208	ENST00000302329	T	0.36520	1.25	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23249	0.0562	N	0.02960	-0.455	0.28159	N	0.929083	P	0.51791	0.948	P	0.55222	0.771	T	0.05402	-1.0887	10	0.23302	T	0.38	.	6.8171	0.23837	0.0882:0.0:0.7346:0.1772	.	140	Q8NGF9	OR4X2_HUMAN	S	140	ENSP00000307751:A140S	ENSP00000307751:A140S	A	+	1	0	OR4X2	48223649	0.165000	0.22948	0.039000	0.18376	0.557000	0.35523	1.926000	0.40084	1.212000	0.43366	0.650000	0.86243	GCA		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		139	559	1	0	7.84169e-52	1	9.74292e-52	139	559					T	48267073	G	T	48267073	3	4	79	1	0	0	0	0	1	0	0	0	11127	971	34	3	420	3	OR4X2	11	48267073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379	48267073	86739443	12022	22339											
OR4X2	119764	broad.mit.edu	37	chr11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagttttggggtcctcttaGcatcctatatggtcatcttg	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							192	168	176					11																	48267277		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267277G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.622G>T	11.37:g.48267277G>T	ENSP00000307751:p.Ala208Ser						p.A208S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	670	+			208					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.622G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040199	0.08148	.	.	ENSG00000172208	ENST00000302329	T	0.37235	1.21	5.37	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.378408	0.22553	N	0.058569	T	0.22244	0.0536	L	0.35487	1.065	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.13045	-1.0524	10	0.35671	T	0.21	.	4.8436	0.13503	0.1753:0.0:0.4144:0.4104	.	208	Q8NGF9	OR4X2_HUMAN	S	208	ENSP00000307751:A208S	ENSP00000307751:A208S	A	+	1	0	OR4X2	48223853	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	-1.070000	0.03440	0.201000	0.20466	0.650000	0.86243	GCA		0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		97	582	1	0	1.31969e-37	1	1.58597e-37	97	582					T	48267277	G	T	48267277	3	4	79	1	0	0	0	0	1	0	0	0	11127	971	34	3	624	3	OR4X2	11	48267277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	48267277	86739239	12023	22340											
OR4X1	390113	broad.mit.edu	37	chr11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggaggggcagcacaagGccctctccacctgtgcctct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(700-702)Gcc>Acc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							130	116	121					11																	48286112		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286112G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.700G>A	11.37:g.48286112G>A	ENSP00000321506:p.Ala234Thr						p.A234T	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	700	+			234					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.700G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392031	0.42410	.	.	ENSG00000176567	ENST00000320048	T	0.00357	7.89	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73753	2.245	0.24716	N	0.993173	D	0.89917	1.0	D	0.97110	1.0	T	0.47935	-0.9078	9	0.72032	D	0.01	.	10.774	0.46340	0.0941:0.0:0.9059:0.0	.	234	Q8NH49	OR4X1_HUMAN	T	234	ENSP00000321506:A234T	ENSP00000321506:A234T	A	+	1	0	OR4X1	48242688	1.000000	0.71417	0.362000	0.25862	0.001000	0.01503	3.712000	0.54875	1.240000	0.43803	-0.244000	0.11960	GCC		0.542	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		87	405	0	0	0	1	0	87	405					A	48286112	G	A	48286112	3	1	79	1	0	0	0	0	1	0	0	0	11126	1203	42	2	702	2	OR4X1	11	48286112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18835	48286112	86720404	12024	22341											
OR4C3	256144	broad.mit.edu	37	chr11	48346535	48346535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctccttgtctttataGgcaatactgcacctgcattc	6	11	2	0	rs76964780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48346535G>T	ENST00000319856.4	+	1	64	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTCTTTATAGGCAATACTGC	0.383																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(43-45)Ggc>Tgc		olfactory receptor, family 4, subfamily C, member 3							118	122	121					11																	48346535		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346535G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.43G>T	11.37:g.48346535G>T	ENSP00000321419:p.Gly15Cys						p.G15C	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	64	+			168					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.43G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583278	0.65992	.	.	ENSG00000176547	ENST00000319856	T	0.08102	3.13	5.56	4.64	0.57946	.	1.040110	0.07705	N	0.941067	T	0.16385	0.0394	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32052	-0.9921	7	0.87932	D	0	.	12.6524	0.56768	0.0814:0.0:0.9186:0.0	.	.	.	.	C	15	ENSP00000321419:G15C	ENSP00000321419:G15C	G	+	1	0	OR4C3	48303111	0.000000	0.05858	0.311000	0.25182	0.524000	0.34500	0.455000	0.21843	1.363000	0.46019	0.549000	0.68633	GGC		0.383	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		105	549	1	0	2.13536e-36	1	2.55586e-36	105	549					T	48346535	G	T	48346535	3	4	79	1	0	0	0	0	1	0	0	0	11092	1000	35	3	45	3	OR4C3	11	48346535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60423	48346535	86659981	12025	22342											
OR4C3	256144	broad.mit.edu	37	chr11	48347003	48347003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctctgtgccatgcttgtaGgggtggcttggcttgggggc	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347003G>T	ENST00000319856.4	+	1	532	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CATGCTTGTAGGGGTGGCTTG	0.532																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(511-513)Ggg>Tgg		olfactory receptor, family 4, subfamily C, member 3							131	126	128					11																	48347003		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347003G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.511G>T	11.37:g.48347003G>T	ENSP00000321419:p.Gly171Trp						p.G171W	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	532	+			144					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.511G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285671	0.59867	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.38887	1.11	5.78	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.571355	0.15898	N	0.239189	T	0.56790	0.2009	M	0.66297	2.02	0.18873	N	0.999988	D	0.64830	0.994	D	0.69479	0.964	T	0.44605	-0.9317	10	0.62326	D	0.03	.	7.5617	0.27855	0.0815:0.0:0.6439:0.2746	.	144	Q8NH37	OR4C3_HUMAN	W	171;34	ENSP00000321419:G171W	ENSP00000321419:G171W	G	+	1	0	OR4C3	48303579	0.044000	0.20184	0.985000	0.45067	0.891000	0.51852	2.304000	0.43655	2.782000	0.95742	0.478000	0.44815	GGG		0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		14	430	1	0	1.5842e-08	1	1.65642e-08	14	430					T	48347003	G	T	48347003	3	4	79	1	0	0	0	0	1	0	0	0	11092	1000	35	3	513	3	OR4C3	11	48347003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	468	48347003	86659513	12026	22343											
FOLH1	2346	broad.mit.edu	37	chr11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaacataccaaatgatacaCtgtatgtcttcatttcctgt	5	9	2	1	rs375836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000256999.2	-	16	2137	c.1877G>T	c.(1876-1878)aGt>aTt	p.S626I	FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000340334.7_Missense_Mutation_p.S611I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	626					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAATGATACACTGTATGTCTT	0.323																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1831-1833)aGt>aTt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						144	130	135					11																	49175791		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175791C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1877G>T	11.37:g.49175791C>A	ENSP00000256999:p.Ser626Ile					FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000256999.2_Missense_Mutation_p.S626I|FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I	p.S611I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			17	2200	-			626					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1832G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864361	0.17250	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.62	-5.07	0.02938	Transferrin receptor-like, dimerisation domain (2);	0.959845	0.08638	N	0.916012	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.42078	0.074;0.092;0.004;0.059;0.77	B;B;B;B;B	0.37239	0.034;0.037;0.023;0.074;0.244	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.1645	0.20382	0.1324:0.3207:0.0:0.5469	.	611;611;626;626;41	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	I	626;626;611;318;611	ENSP00000256999:S626I;ENSP00000349129:S626I;ENSP00000344131:S611I;ENSP00000344086:S318I;ENSP00000431463:S611I	ENSP00000256999:S626I	S	-	2	0	FOLH1	49132367	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-1.647000	0.01997	-1.037000	0.03283	0.404000	0.27445	AGT		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		67	296	1	0	3.78398e-24	1	4.31794e-24	67	296					A	49175791	C	A	49175791	3	1	79	1	0	0	0	0	1	0	0	0	6004	565	20	3	391	3	FOLH1	11	49175791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	828788	49175791	85830725	12027	22344											
FOLH1	2346	broad.mit.edu	37	chr11	49204705	49204705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttacaaacttactctaGgagcttctgtgcatcatagt	6	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49204705G>T	ENST00000256999.2	-	7	1176	c.916C>A	c.(916-918)Cta>Ata	p.L306I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.L291I|FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	306	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACTTACTCTAGGAGCTTCTGT	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(871-873)Cta>Ata		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						71	69	70					11																	49204705		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49204705G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.916C>A	11.37:g.49204705G>T	ENSP00000256999:p.Leu306Ile					FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I|FOLH1_ENST00000256999.2_Missense_Mutation_p.L306I|FOLH1_ENST00000343844.4_5'UTR	p.L291I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			8	1239	-			306			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.871C>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.304998	0.40795	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	2.76	1.8	0.24995	.	0.000000	0.38959	N	0.001518	T	0.66982	0.2845	M	0.88775	2.98	0.80722	D	1	D;D;P;P	0.71674	0.998;0.958;0.891;0.661	D;D;P;P	0.72982	0.974;0.979;0.706;0.613	T	0.65985	-0.6035	10	0.56958	D	0.05	.	6.837	0.23941	0.1575:0.0:0.8425:0.0	.	291;291;306;306	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	I	306;306;291;291;306	ENSP00000256999:L306I;ENSP00000349129:L306I;ENSP00000344131:L291I;ENSP00000431463:L291I	ENSP00000256999:L306I	L	-	1	2	FOLH1	49161281	0.998000	0.40836	0.974000	0.42286	0.313000	0.28021	2.021000	0.41020	0.479000	0.27511	0.194000	0.17425	CTA		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		48	233	1	0	4.18559e-23	1	4.75231e-23	48	233					T	49204705	G	T	49204705	3	4	79	1	0	0	0	0	1	0	0	0	6004	991	35	3	1388	3	FOLH1	11	49204705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28914	49204705	85801811	12028	22345											
OR4C12	283093	broad.mit.edu	37	chr11	50003628	50003628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggagaatgcacaggCtgtggctcataatggttgtg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50003628C>A	ENST00000335238.4	-	1	443	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGCACAGGCTGTGGCTCAT	0.498																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(409-411)aGc>aTc		olfactory receptor, family 4, subfamily C, member 12							159	163	162					11																	50003628		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003628C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.410G>T	11.37:g.50003628C>A	ENSP00000334418:p.Ser137Ile						p.S137I	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	443	-			137					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.410G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	1.770	-0.484549	0.04352	.	.	ENSG00000221954	ENST00000335238	T	0.38077	1.16	3.31	-0.249	0.13011	GPCR, rhodopsin-like superfamily (1);	0.620671	0.13071	U	0.416101	T	0.25082	0.0609	L	0.32530	0.975	0.09310	N	1	B	0.21309	0.054	B	0.25759	0.063	T	0.27571	-1.0070	10	0.66056	D	0.02	.	6.2106	0.20628	0.0:0.3643:0.0:0.6357	.	137	Q96R67	OR4CC_HUMAN	I	137	ENSP00000334418:S137I	ENSP00000334418:S137I	S	-	2	0	OR4C12	49960204	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.739000	0.01840	0.109000	0.17891	-0.555000	0.04198	AGC		0.498	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		28	1157	1	0	3.01185e-09	1	3.16585e-09	28	1157					A	50003628	C	A	50003628	3	1	79	1	0	0	0	0	1	0	0	0	11088	797	28	3	523	3	OR4C12	11	50003628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	798923	50003628	85002888	12029	22346											
OR4A5	81318	broad.mit.edu	37	chr11	51411541	51411541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctctgaatttctcaaCgtatatattaaaggactcag	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T285T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328																																						ENST00000319760.6																			1	Substitution - coding silent(1)	p.T285T(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(853-855)acG>acA		olfactory receptor, family 4, subfamily A, member 5							34	36	35					11																	51411541		2201	4293	6494	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411541C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.855G>A	11.37:g.51411541C>T							p.T285T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	907	-		all_lung(304;0.236)	285					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.855G>A	CCDS31497.1																																																																																				0.328	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		29	136	0	0	0	1	0	29	136					T	51411541	C	T	51411541	2	4	79	1	0	0	0	0	0	0	0	1	11085	523	19	1		1	OR4A5	11	51411541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407913	51411541	83594975	12030	22347											
OR4A5	81318	broad.mit.edu	37	chr11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgacaacaacagtgaggcCtataaagtaggtgtcagtgc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(577-579)Ggc>Tgc		olfactory receptor, family 4, subfamily A, member 5							60	54	56					11																	51411819		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411819C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.577G>T	11.37:g.51411819C>A	ENSP00000367664:p.Gly193Cys						p.G193C	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	629	-		all_lung(304;0.236)	193					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.577G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860521	0.17178	.	.	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.135995	0.33364	N	0.004990	T	0.00440	0.0014	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37056	-0.9722	10	0.87932	D	0	.	4.5006	0.11862	0.0:0.804:0.0:0.196	.	193	Q8NH83	OR4A5_HUMAN	C	193	ENSP00000367664:G193C	ENSP00000367664:G193C	G	-	1	0	OR4A5	51268395	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	0.612000	0.24283	1.394000	0.46624	0.162000	0.16502	GGC		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		34	196	1	0	4.74835e-14	1	5.14536e-14	34	196					A	51411819	C	A	51411819	3	1	79	1	0	0	0	0	1	0	0	0	11085	681	24	3	374	3	OR4A5	11	51411819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278	51411819	83594697	12031	22348											
OR4A5	81318	broad.mit.edu	37	chr11	51411931	51411931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacacaacaatttgaaaCgcagaatgtacaaaacctcc	5	11	0	2	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21566	0.002		0.0	False		,,,				2504	0.0					ENST00000319760.6																			1	Substitution - coding silent(1)	p.A155A(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(463-465)gcG>gcA		olfactory receptor, family 4, subfamily A, member 5		C		3,4399		0,3,2198	86	78	81		465	0.9	0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411931C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.465G>A	11.37:g.51411931C>T							p.A155A	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	517	-		all_lung(304;0.236)	155					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.465G>A	CCDS31497.1																																																																																				0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		56	238	0	0	0	1	0	56	238					T	51411931	C	T	51411931	2	4	79	1	0	0	0	0	0	0	0	1	11085	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51411931	83594585	12032	22349											
OR4C46	119749	broad.mit.edu	37	chr11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctgcttgttaaactttgCcctcctgctggtctcctatg	7	13	2	0	rs368077487		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(628-630)gCc>gAc		olfactory receptor, family 4, subfamily C, member 46							123	106	112					11																	51515910		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515910C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.629C>A	11.37:g.51515910C>A	ENSP00000329056:p.Ala210Asp						p.A210D	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	629	+			210						Missense_Mutation	SNP	ENST00000328188.1	37	c.629C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.840	-0.467648	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.39229	1.09	2.47	0.105	0.14535	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000941	T	0.41811	0.1175	M	0.75777	2.31	0.09310	N	1	B	0.19445	0.036	B	0.32022	0.139	T	0.46527	-0.9185	10	0.72032	D	0.01	.	6.6039	0.22714	0.0:0.4123:0.0:0.5877	.	210	A6NHA9	O4C46_HUMAN	D	210	ENSP00000329056:A210D	ENSP00000329056:A210D	A	+	2	0	OR4C46	51372486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.122000	0.11766	-1.950000	0.00486	GCC		0.517	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		74	329	1	0	7.33394e-39	1	8.85091e-39	74	329					A	51515910	C	A	51515910	3	1	79	1	0	0	0	0	1	0	0	0	11093	739	26	3	631	3	OR4C46	11	51515910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103979	51515910	83490606	12033	22350											
OR4C46	119749	broad.mit.edu	37	chr11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcccagatgaaaaatgCcatcaggaaattgtgtagta	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(883-885)gCc>gTc		olfactory receptor, family 4, subfamily C, member 46							46	39	41					11																	51516165		2200	4287	6487	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516165C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.884C>T	11.37:g.51516165C>T	ENSP00000329056:p.Ala295Val						p.A295V	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	884	+			295						Missense_Mutation	SNP	ENST00000328188.1	37	c.884C>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.904	0.350805	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.44881	0.91	2.54	1.6	0.23607	.	0.000000	0.37809	U	0.001934	T	0.35128	0.0921	L	0.58302	1.8	0.23981	N	0.996275	B	0.30727	0.292	B	0.31191	0.125	T	0.29181	-1.0020	10	0.59425	D	0.04	.	7.0259	0.24940	0.0:0.8499:0.0:0.1501	.	295	A6NHA9	O4C46_HUMAN	V	295	ENSP00000329056:A295V	ENSP00000329056:A295V	A	+	2	0	OR4C46	51372741	0.001000	0.12720	0.633000	0.29310	0.093000	0.18481	1.114000	0.31196	0.409000	0.25649	0.186000	0.17326	GCC		0.343	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		65	256	0	0	0	1	0	65	256					T	51516165	C	T	51516165	3	4	79	1	0	0	0	0	1	0	0	0	11093	739	26	2	886	2	OR4C46	11	51516165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	51516165	83490351	12034	22351											
OR4A15	81328	broad.mit.edu	37	chr11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctcacacagaaccctgAggggcaaaaggttttatttg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(148-150)gAg>gCg		olfactory receptor, family 4, subfamily A, member 15							69	65	67					11																	55135508		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135508A>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.149A>C	11.37:g.55135508A>C	ENSP00000325065:p.Glu50Ala						p.E50A	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	149	+			50					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.149A>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	6.125	0.391311	0.11581	.	.	ENSG00000181958	ENST00000314706	T	0.00438	7.42	3.48	0.908	0.19326	.	0.125811	0.35495	N	0.003167	T	0.00384	0.0012	M	0.70842	2.15	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43343	-0.9397	10	0.36615	T	0.2	.	7.5998	0.28069	0.5696:0.4304:0.0:0.0	.	50	Q8NGL6	O4A15_HUMAN	A	50	ENSP00000325065:E50A	ENSP00000325065:E50A	E	+	2	0	OR4A15	54892084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	-0.017000	0.14103	-0.677000	0.03784	GAG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		53	268	0	0	0	1	0	53	268					C	55135508	A	C	55135508	3	2	79	1	0	0	0	0	1	0	0	0	11082	304	11	4	151	4	OR4A15	11	55135508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3619343	55135508	79871008	12035	22352											
OR4A15	81328	broad.mit.edu	37	chr11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttatttatcagctccctttCtgtggacccaatgtcattga	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(586-588)ttC>ttA		olfactory receptor, family 4, subfamily A, member 15							134	124	128					11																	55135947		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135947C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.588C>A	11.37:g.55135947C>A	ENSP00000325065:p.Phe196Leu						p.F196L	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	588	+			196					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.588C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.612928	0.46631	.	.	ENSG00000181958	ENST00000314706	T	0.00039	8.85	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.122467	0.37219	N	0.002196	T	0.00328	0.0010	M	0.71206	2.165	0.26873	N	0.967715	D	0.60575	0.988	D	0.64595	0.927	T	0.41142	-0.9525	10	0.87932	D	0	.	5.9037	0.18980	0.0:0.7489:0.0:0.2511	.	196	Q8NGL6	O4A15_HUMAN	L	196	ENSP00000325065:F196L	ENSP00000325065:F196L	F	+	3	2	OR4A15	54892523	0.685000	0.27652	0.947000	0.38551	0.708000	0.40852	-0.010000	0.12743	0.635000	0.30488	0.492000	0.49549	TTC		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		133	607	1	0	3.16155e-46	1	3.88191e-46	133	607					A	55135947	C	A	55135947	3	1	79	1	0	0	0	0	1	0	0	0	11082	912	32	3	590	3	OR4A15	11	55135947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	55135947	79870569	12036	22353											
OR4A15	81328	broad.mit.edu	37	chr11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcattttattctttgTcccctgtatcttcttgtatg	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(838-840)gTc>gCc		olfactory receptor, family 4, subfamily A, member 15							254	241	245					11																	55136198		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136198T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.839T>C	11.37:g.55136198T>C	ENSP00000325065:p.Val280Ala						p.V280A	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	839	+			280					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.839T>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449808	0.63290	.	.	ENSG00000181958	ENST00000314706	T	0.38240	1.15	3.65	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000387	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	0.999992	P	0.40000	0.698	P	0.47075	0.536	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.854	0.24030	0.0:0.1169:0.0:0.8831	.	280	Q8NGL6	O4A15_HUMAN	A	280	ENSP00000325065:V280A	ENSP00000325065:V280A	V	+	2	0	OR4A15	54892774	0.000000	0.05858	0.110000	0.21437	0.467000	0.32768	-0.314000	0.08092	0.488000	0.27723	0.403000	0.27427	GTC		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		221	973	0	0	0	1	0	221	973					C	55136198	T	C	55136198	3	2	79	1	0	0	0	0	1	0	0	0	11082	1667	58	4	841	4	OR4A15	11	55136198	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55136198	79870318	12037	22354											
OR4C11	219429	broad.mit.edu	37	chr11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgtatatatgaataTacatgggccaaagaataaga	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(757-759)Ata>Gta		olfactory receptor, family 4, subfamily C, member 11							67	57	60					11																	55371093		2179	4005	6184	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371093T>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.757A>G	11.37:g.55371093T>C	ENSP00000306651:p.Ile253Val						p.I253V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	781	-			253					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.757A>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256781	0.22965	.	.	ENSG00000172188	ENST00000302231	T	0.38887	1.11	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.112156	0.39083	N	0.001478	T	0.39091	0.1065	L	0.49640	1.575	0.09310	N	0.999997	B	0.25312	0.123	B	0.34590	0.186	T	0.38824	-0.9643	10	0.54805	T	0.06	.	8.5156	0.33244	0.0:0.0955:0.0:0.9045	.	253	Q6IEV9	OR4CB_HUMAN	V	253	ENSP00000306651:I253V	ENSP00000306651:I253V	I	-	1	0	OR4C11	55127669	0.000000	0.05858	0.836000	0.33094	0.019000	0.09904	-0.592000	0.05747	0.755000	0.32990	0.391000	0.25812	ATA		0.443	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		87	348	0	0	0	1	0	87	348					C	55371093	T	C	55371093	3	2	79	1	0	0	0	0	1	0	0	0	11087	1406	49	4	177	4	OR4C11	11	55371093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234895	55371093	79635423	12038	22355											
OR4C11	219429	broad.mit.edu	37	chr11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactacttgagcaaattGccccactgttagacaccaac	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(607-609)gCa>gTa		olfactory receptor, family 4, subfamily C, member 11							87	72	78					11																	55371242		2179	4012	6191	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371242G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.608C>T	11.37:g.55371242G>A	ENSP00000306651:p.Ala203Val						p.A203V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	632	-			203					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.608C>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603905	0.03717	.	.	ENSG00000172188	ENST00000302231	T	0.34859	1.34	4.34	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.09555	0.0235	N	0.03194	-0.395	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22417	-1.0217	10	0.02654	T	1	.	0.6945	0.00897	0.2468:0.1829:0.3829:0.1874	.	203	Q6IEV9	OR4CB_HUMAN	V	203	ENSP00000306651:A203V	ENSP00000306651:A203V	A	-	2	0	OR4C11	55127818	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-1.028000	0.03589	0.195000	0.20347	-0.349000	0.07799	GCA		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		41	426	0	0	0	1	0	41	426					A	55371242	G	A	55371242	3	1	79	1	0	0	0	0	1	0	0	0	11087	1319	46	2	326	2	OR4C11	11	55371242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	55371242	79635274	12039	22356											
OR4C11	219429	broad.mit.edu	37	chr11	55371419	55371419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctatccaggcaagaAcaatcaggatgatgcagacc	9	11	1	4	rs555433759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371419A>C	ENST00000302231.4	-	1	455	c.431T>G	c.(430-432)gTt>gGt	p.V144G		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCAGGCAAGAACAATCAGGAT	0.453																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(430-432)gTt>gGt		olfactory receptor, family 4, subfamily C, member 11							81	69	73					11																	55371419		2176	4009	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371419A>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.431T>G	11.37:g.55371419A>C	ENSP00000306651:p.Val144Gly						p.V144G	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	455	-			144					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.431T>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.240870	0.01493	.	.	ENSG00000172188	ENST00000302231	T	0.38240	1.15	4.34	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.25606	0.0623	N	0.11789	0.175	0.09310	N	1	B	0.33171	0.4	B	0.43018	0.405	T	0.40776	-0.9545	10	0.18710	T	0.47	.	4.2955	0.10899	0.6869:0.2051:0.108:0.0	.	144	Q6IEV9	OR4CB_HUMAN	G	144	ENSP00000306651:V144G	ENSP00000306651:V144G	V	-	2	0	OR4C11	55127995	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.138000	0.03216	0.292000	0.22492	0.391000	0.25812	GTT		0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		16	406	0	0	0	1	0	16	406					C	55371419	A	C	55371419	3	2	79	1	0	0	0	0	1	0	0	0	11087	43	2	4	503	4	OR4C11	11	55371419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	55371419	79635097	12040	22357											
OR4P4	81300	broad.mit.edu	37	chr11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tataataactgtatgatacaActctttaccacccatttttt	2	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(292-294)caA>caC		olfactory receptor, family 4, subfamily P, member 4							116	100	106					11																	55406127		2179	4018	6197	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406127A>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.294A>C	11.37:g.55406127A>C	ENSP00000324831:p.Gln98His						p.Q98H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	294	+			98						Missense_Mutation	SNP	ENST00000314612.2	37	c.294A>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509718	0.27036	.	.	ENSG00000181927	ENST00000314612	T	0.00472	7.19	5.18	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001567	T	0.01489	0.0048	H	0.95004	3.61	0.23693	N	0.997095	D	0.76494	0.999	D	0.70227	0.968	T	0.28332	-1.0047	10	0.87932	D	0	-2.1273	6.2509	0.20845	0.3697:0.1177:0.5126:0.0	.	98	Q8NGL7	OR4P4_HUMAN	H	98	ENSP00000324831:Q98H	ENSP00000324831:Q98H	Q	+	3	2	OR4P4	55162703	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.000000	0.03693	-0.297000	0.08934	-0.261000	0.10672	CAA		0.448	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		128	543	0	0	0	1	0	128	543					C	55406127	A	C	55406127	3	2	79	1	0	0	0	0	1	0	0	0	11122	40	2	4	296	4	OR4P4	11	55406127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34708	55406127	79600389	12041	22358											
OR4S2	219431	broad.mit.edu	37	chr11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacctgtttaagtcacCcatgtatttctttctcagct	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(166-168)cCc>cTc		olfactory receptor, family 4, subfamily S, member 2							244	193	211					11																	55418546		2181	4046	6227	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418546C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.167C>T	11.37:g.55418546C>T	ENSP00000310337:p.Pro56Leu						p.P56L	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	167	+		all_epithelial(135;0.0748)	56					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.167C>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410657	0.62399	.	.	ENSG00000174982	ENST00000312422	T	0.02032	4.49	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20047	0.0482	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.87932	D	0	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	L	56	ENSP00000310337:P56L	ENSP00000310337:P56L	P	+	2	0	OR4S2	55175122	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		117	740	0	0	0	1	0	117	740					T	55418546	C	T	55418546	3	4	79	1	0	0	0	0	1	0	0	0	11125	623	22	2	169	2	OR4S2	11	55418546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12419	55418546	79587970	12042	22359											
OR5D13	390142	broad.mit.edu	37	chr11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactattatgtctcagaagCtctgtgctcttctggtggct	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(424-426)Ctc>Atc		olfactory receptor, family 5, subfamily D, member 13							216	216	216					11																	55541337		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541337C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.424C>A	11.37:g.55541337C>A	ENSP00000354800:p.Leu142Ile						p.L142I	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	424	+		all_epithelial(135;0.196)	142					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.424C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857061	0.32791	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.632696	0.12068	U	0.502545	T	0.00328	0.0010	M	0.63169	1.94	0.09310	N	1	B	0.31989	0.35	P	0.48524	0.58	T	0.22138	-1.0225	10	0.27082	T	0.32	-4.8549	9.2055	0.37287	0.0:0.8862:0.0:0.1138	.	142	Q8NGL4	OR5DD_HUMAN	I	142	ENSP00000354800:L142I	ENSP00000354800:L142I	L	+	1	0	OR5D13	55297913	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.974000	0.03794	0.714000	0.32081	0.409000	0.27619	CTC		0.428	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		160	786	1	0	1.34836e-70	1	1.71305e-70	160	786					A	55541337	C	A	55541337	3	1	79	1	0	0	0	0	1	0	0	0	11196	797	28	3	426	3	OR5D13	11	55541337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122791	55541337	79465179	12043	22360											
OR5D18	219438	broad.mit.edu	37	chr11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccctcttgggcttctcaGattacccagaactgcaagtc	7	14	3	2	rs547181833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCCAGA	0.428																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(58-60)Gat>Aat		olfactory receptor, family 5, subfamily D, member 18							117	110	112					11																	55587163		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587163G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.58G>A	11.37:g.55587163G>A	ENSP00000335025:p.Asp20Asn						p.D20N	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	78	+		all_epithelial(135;0.208)	20					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.58G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228406	0.58777	.	.	ENSG00000186119	ENST00000333976	T	0.00433	7.43	5.18	3.3	0.37823	.	0.390655	0.18927	N	0.127316	T	0.00328	0.0010	L	0.29908	0.895	0.29344	N	0.865858	B	0.10296	0.003	B	0.24394	0.053	T	0.21861	-1.0233	10	0.42905	T	0.14	-14.4095	10.7949	0.46455	0.1567:0.0:0.8433:0.0	.	20	Q8NGL1	OR5DI_HUMAN	N	20	ENSP00000335025:D20N	ENSP00000335025:D20N	D	+	1	0	OR5D18	55343739	0.003000	0.15002	0.987000	0.45799	0.995000	0.86356	0.869000	0.27996	0.722000	0.32252	0.632000	0.83419	GAT		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		89	279	0	0	0	1	0	89	279					A	55587163	G	A	55587163	3	1	79	1	0	0	0	0	1	0	0	0	11199	942	33	2	60	2	OR5D18	11	55587163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45826	55587163	79419353	12044	22361											
OR5D18	219438	broad.mit.edu	37	chr11	55587930	55587930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacacagtcaaagtggcCtctgtgttttacaccgtggt	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(823-825)gcC>gcT		olfactory receptor, family 5, subfamily D, member 18							90	88	88					11																	55587930		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587930C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.825C>T	11.37:g.55587930C>T							p.A275A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	845	+		all_epithelial(135;0.208)	275					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.825C>T	CCDS31510.1																																																																																				0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		81	301	0	0	0	1	0	81	301					T	55587930	C	T	55587930	2	4	79	1	0	0	0	0	0	0	0	1	11199	668	24	2		2	OR5D18	11	55587930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	767	55587930	79418586	12045	22362											
OR5L2	26338	broad.mit.edu	37	chr11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccctgatctacagcctgaGaaataaggatgtgaacaaag	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TACAGCCTGAGAAATAAGGAT	0.473										HNSCC(27;0.073)																												ENST00000378397.1																			0				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						c.(877-879)aGa>aAa		olfactory receptor, family 5, subfamily L, member 2							47	48	48					11																	55595572		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595572G>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.878G>A	11.37:g.55595572G>A	ENSP00000367650:p.Arg293Lys	HNSCC(27;0.073)					p.R293K	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	878	+		all_epithelial(135;0.208)	293					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.878G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792977	0.50102	.	.	ENSG00000205030	ENST00000378397	T	0.39997	1.05	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000018	T	0.52677	0.1749	M	0.79343	2.45	0.31168	N	0.703581	P	0.50943	0.94	P	0.46208	0.507	T	0.65421	-0.6172	10	0.59425	D	0.04	-22.9325	17.1913	0.86880	0.0:0.0:1.0:0.0	.	293	Q8NGL0	OR5L2_HUMAN	K	293	ENSP00000367650:R293K	ENSP00000367650:R293K	R	+	2	0	OR5L2	55352148	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	5.069000	0.64370	2.471000	0.83476	0.536000	0.68110	AGA		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		52	184	0	0	0	1	0	52	184					A	55595572	G	A	55595572	3	1	79	1	0	0	0	0	1	0	0	0	11213	942	33	2	880	2	OR5L2	11	55595572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7642	55595572	79410944	12046	22363											
OR5D16	390144	broad.mit.edu	37	chr11	55606350	55606350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtctacggcttcagtgtGgtagggaatcttgggatgat	15	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(121-123)gtG>gtA		olfactory receptor, family 5, subfamily D, member 16							141	135	137					11																	55606350		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606350G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.123G>A	11.37:g.55606350G>A							p.V41V	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	123	+		all_epithelial(135;0.208)	41					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.123G>A	CCDS31512.1																																																																																				0.443	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		142	715	0	0	0	1	0	142	715					A	55606350	G	A	55606350	2	1	79	1	0	0	0	0	0	0	0	1	11198	1335	47	2		2	OR5D16	11	55606350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10778	55606350	79400166	12047	22364											
OR5D16	390144	broad.mit.edu	37	chr11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgaattaattctatTtgcggtgatggcctatgacc	10	7	1	4	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(349-351)tTt>tGt		olfactory receptor, family 5, subfamily D, member 16							123	119	120					11																	55606577		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606577T>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.350T>G	11.37:g.55606577T>G	ENSP00000367649:p.Phe117Cys						p.F117C	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	350	+		all_epithelial(135;0.208)	117					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.350T>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844326	0.51164	.	.	ENSG00000205029	ENST00000378396	T	0.01359	4.98	4.47	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	L	0.36672	1.1	0.19575	N	0.999961	D	0.57257	0.979	P	0.61275	0.886	T	0.44174	-0.9345	9	0.87932	D	0	-27.7796	8.5801	0.33623	0.0:0.0997:0.0:0.9003	.	117	Q8NGK9	OR5DG_HUMAN	C	117	ENSP00000367649:F117C	ENSP00000367649:F117C	F	+	2	0	OR5D16	55363153	0.831000	0.29352	0.002000	0.10522	0.757000	0.42996	5.597000	0.67577	0.694000	0.31654	0.433000	0.28618	TTT		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		158	613	0	0	0	1	0	158	613					G	55606577	T	G	55606577	3	3	79	1	0	0	0	0	1	0	0	0	11198	1841	64	4	352	4	OR5D16	11	55606577	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	227	55606577	79399939	12048	22365											
SPRYD5	84767	broad.mit.edu	37	chr11	55658776	55658776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctggcaaatattatTgggaggttcatatgggggac	12	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658776T>C	ENST00000449290.2	+	7	1119	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R	TRIM51_ENST00000244891.3_Missense_Mutation_p.W200R	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAAATATTATTGGGAGGTTCA	0.433																																						ENST00000449290.2																			0											c.(1027-1029)Tgg>Cgg		tripartite motif-containing 51							81	87	85					11																	55658776		2100	4041	6141	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658776T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1027T>C	11.37:g.55658776T>C	ENSP00000395086:p.Trp343Arg					TRIM51_ENST00000244891.3_Missense_Mutation_p.W200R	p.W343R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1119	+			343			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1027T>C		.	.	.	.	.	.	.	.	.	.	.	14.67	2.603919	0.46423	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	D;D	0.86432	-2.12;-2.12	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.94460	0.8217	H	0.96691	3.865	0.24143	N	0.995722	D	0.89917	1.0	D	0.87578	0.998	D	0.84579	0.0660	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	343	Q9BSJ1	SPRY5_HUMAN	R	343;200	ENSP00000395086:W343R;ENSP00000244891:W200R	ENSP00000244891:W200R	W	+	1	0	SPRYD5	55415352	1.000000	0.71417	0.077000	0.20336	0.407000	0.30961	3.040000	0.49799	0.540000	0.28808	0.136000	0.15936	TGG		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		110	544	0	0	0	1	0	110	544					C	55658776	T	C	55658776	3	2	79	1	0	0	0	0	1	0	0	0	15163	1812	63	4	1049	4	SPRYD5	11	55658776	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52199	55658776	79347740	12049	22366											
SPRYD5	84767	broad.mit.edu	37	chr11	55658916	55658916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaggaggacactcactgCagtctctttaccacctcccc	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658916C>T	ENST00000449290.2	+	7	1259	c.1167C>T	c.(1165-1167)tgC>tgT	p.C389C	TRIM51_ENST00000244891.3_Silent_p.C246C	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ACACTCACTGCAGTCTCTTTA	0.448																																						ENST00000449290.2																			0											c.(1165-1167)tgC>tgT		tripartite motif-containing 51							31	31	31					11																	55658916		2123	4088	6211	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55658916C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1167C>T	11.37:g.55658916C>T						TRIM51_ENST00000244891.3_Silent_p.C246C	p.C389C	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1259	+			389			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1167C>T																																																																																					0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		63	307	0	0	0	1	0	63	307					T	55658916	C	T	55658916	2	4	79	1	0	0	0	0	0	0	0	1	15163	718	25	2		2	SPRYD5	11	55658916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	55658916	79347600	12050	22367											
OR5W2	390148	broad.mit.edu	37	chr11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccacaagggtgtaaaAcaatgaggtcattttatctt	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTGTAAAACAATGAGGTC	0.393																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(829-831)Ttt>Gtt		olfactory receptor, family 5, subfamily W, member 2							60	67	65					11																	55681230		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681230A>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.829T>G	11.37:g.55681230A>C	ENSP00000342448:p.Phe277Val						p.F277V	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	828	-			277						Missense_Mutation	SNP	ENST00000344514.1	37	c.829T>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896046	0.33442	.	.	ENSG00000187612	ENST00000344514	T	0.00158	8.65	5.01	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000882	T	0.00384	0.0012	M	0.74881	2.28	0.20926	N	0.999825	D	0.67145	0.996	D	0.74023	0.982	T	0.41502	-0.9505	10	0.87932	D	0	.	6.6093	0.22743	0.8109:0.0:0.1891:0.0	.	277	Q8NH69	OR5W2_HUMAN	V	277	ENSP00000342448:F277V	ENSP00000342448:F277V	F	-	1	0	OR5W2	55437806	0.008000	0.16893	0.241000	0.24154	0.243000	0.25628	1.659000	0.37387	0.748000	0.32831	0.448000	0.29417	TTT		0.393	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		34	191	0	0	0	1	0	34	191					C	55681230	A	C	55681230	3	2	79	1	0	0	0	0	1	0	0	0	11227	43	2	4	105	4	OR5W2	11	55681230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22314	55681230	79325286	12051	22368											
OR5F1	338674	broad.mit.edu	37	chr11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcataggccattaacccaaAgaggatgcattcggttgtcg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	115					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTAACCCAAAGAGGATGCAT	0.493																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(343-345)Ttt>Ctt		olfactory receptor, family 5, subfamily F, member 1							78	77	77					11																	55761759		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761759A>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.343T>C	11.37:g.55761759A>G	ENSP00000278409:p.Phe115Leu						p.F115L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	342	-	Esophageal squamous(21;0.00448)		115					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.343T>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323286	0.01309	.	.	ENSG00000149133	ENST00000278409	T	0.00824	5.65	2.92	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.00014	-2.905	0.09310	N	1	B	0.23735	0.09	B	0.22386	0.039	T	0.43750	-0.9372	9	0.02654	T	1	.	6.2785	0.20993	0.4996:0.0:0.5004:0.0	.	115	O95221	OR5F1_HUMAN	L	115	ENSP00000278409:F115L	ENSP00000278409:F115L	F	-	1	0	OR5F1	55518335	0.035000	0.19736	0.306000	0.25113	0.499000	0.33736	0.295000	0.19065	0.191000	0.20236	0.247000	0.18012	TTT		0.493	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		100	489	0	0	0	1	0	100	489					G	55761759	A	G	55761759	3	3	79	1	0	0	0	0	1	0	0	0	11200	72	3	4	604	4	OR5F1	11	55761759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80529	55761759	79244757	12052	22369											
OR5AS1	219447	broad.mit.edu	37	chr11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatctgcaacccactgCtctatactacactgatgtct	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(391-393)Ctc>Ttc		olfactory receptor, family 5, subfamily AS, member 1							155	126	136					11																	55798285		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798285C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.391C>T	11.37:g.55798285C>T	ENSP00000324111:p.Leu131Phe						p.L131F	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	391	+	Esophageal squamous(21;0.00693)		131					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.391C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927250	0.34002	.	.	ENSG00000181785	ENST00000313555	T	0.00760	5.73	5.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.280065	0.19121	U	0.122191	T	0.02848	0.0085	M	0.83312	2.635	0.19300	N	0.999978	D	0.53619	0.961	P	0.50405	0.64	T	0.29518	-1.0009	10	0.45353	T	0.12	.	15.7281	0.77780	0.1459:0.854:0.0:0.0	.	131	Q8N127	O5AS1_HUMAN	F	131	ENSP00000324111:L131F	ENSP00000324111:L131F	L	+	1	0	OR5AS1	55554861	0.951000	0.32395	0.939000	0.37840	0.020000	0.10135	2.180000	0.42537	2.557000	0.86248	0.643000	0.83706	CTC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		78	369	0	0	0	1	0	78	369					T	55798285	C	T	55798285	3	4	79	1	0	0	0	0	1	0	0	0	11188	797	28	2	393	2	OR5AS1	11	55798285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36526	55798285	79208231	12053	22370											
OR5AS1	219447	broad.mit.edu	37	chr11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagctattagaaagaattgGatattcaaatgaatggtatt	8	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(925-927)gGa>gTa		olfactory receptor, family 5, subfamily AS, member 1							46	53	51					11																	55798820		2197	4294	6491	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798820G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.926G>T	11.37:g.55798820G>T	ENSP00000324111:p.Gly309Val						p.G309V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	926	+	Esophageal squamous(21;0.00693)		309					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.926G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563982	0.00903	.	.	ENSG00000181785	ENST00000313555	T	0.00355	7.91	3.1	-1.18	0.09617	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	9	0.15499	T	0.54	.	3.8059	0.08777	0.2877:0.0:0.4271:0.2851	.	309	Q8N127	O5AS1_HUMAN	V	309	ENSP00000324111:G309V	ENSP00000324111:G309V	G	+	2	0	OR5AS1	55555396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.628000	0.05515	-0.586000	0.05898	-3.086000	0.00065	GGA		0.289	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		36	247	1	0	9.04072e-19	1	1.00536e-18	36	247					T	55798820	G	T	55798820	3	4	79	1	0	0	0	0	1	0	0	0	11188	1174	41	3	928	3	OR5AS1	11	55798820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535	55798820	79207696	12054	22371											
OR8H2	390151	broad.mit.edu	37	chr11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcttattccttgggaagaGatcaagtggcttctgttttt	10	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(811-813)Gat>Tat		olfactory receptor, family 8, subfamily H, member 2							83	87	86					11																	55873329		2201	4295	6496	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873329G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.811G>T	11.37:g.55873329G>T	ENSP00000323982:p.Asp271Tyr	HNSCC(53;0.14)					p.D271Y	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	811	+	Esophageal squamous(21;0.00693)		271					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.811G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	7.949	0.744428	0.15710	.	.	ENSG00000181767	ENST00000313503	T	0.00256	8.42	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00384	0.0012	M	0.89715	3.055	0.09310	N	1	P	0.42409	0.779	P	0.48738	0.588	T	0.21930	-1.0231	10	0.87932	D	0	.	5.563	0.17154	0.174:0.0:0.6649:0.1611	.	271	Q8N162	OR8H2_HUMAN	Y	271	ENSP00000323982:D271Y	ENSP00000323982:D271Y	D	+	1	0	OR8H2	55629905	0.000000	0.05858	0.382000	0.26119	0.058000	0.15608	-0.479000	0.06567	0.788000	0.33755	0.440000	0.28878	GAT		0.363	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		101	411	1	0	1.74666e-38	1	2.10562e-38	101	411					T	55873329	G	T	55873329	3	4	79	1	0	0	0	0	1	0	0	0	11280	942	33	3	813	3	OR8H2	11	55873329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74509	55873329	79133187	12055	22372											
OR8H3	390152	broad.mit.edu	37	chr11	55890184	55890184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggtactgctgaatgTtatcttctctcctcaatggc	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CTGCTGAATGTTATCTTCTCT	0.458																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(334-336)tgT>tgC		olfactory receptor, family 8, subfamily H, member 3							279	267	271					11																	55890184		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890184T>C	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.336T>C	11.37:g.55890184T>C							p.C112C	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	336	+	Esophageal squamous(21;0.00693)		112					Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.336T>C	CCDS31519.1																																																																																				0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		279	1326	0	0	0	1	0	279	1326					C	55890184	T	C	55890184	2	2	79	1	0	0	0	0	0	0	0	1	11281	1731	60	4		4	OR8H3	11	55890184	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16855	55890184	79116332	12056	22373											
OR8H3	390152	broad.mit.edu	37	chr11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctttatggactcctttgTcaatgtggtttccatgagca	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GACTCCTTTGTCAATGTGGTT	0.448																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(472-474)gTc>gCc		olfactory receptor, family 8, subfamily H, member 3							225	199	208					11																	55890321		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890321T>C	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.473T>C	11.37:g.55890321T>C	ENSP00000323928:p.Val158Ala						p.V158A	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	473	+	Esophageal squamous(21;0.00693)		158					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.473T>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	2.812	-0.246693	0.05867	.	.	ENSG00000181761	ENST00000313472	T	0.37915	1.17	3.62	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.117260	0.06780	N	0.785094	T	0.27098	0.0664	L	0.35542	1.07	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.33189	-0.9878	10	0.22109	T	0.4	.	6.0785	0.19928	0.0:0.3827:0.0:0.6173	.	158	Q8N146	OR8H3_HUMAN	A	158	ENSP00000323928:V158A	ENSP00000323928:V158A	V	+	2	0	OR8H3	55646897	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.117000	0.15583	0.401000	0.25424	0.145000	0.16022	GTC		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		87	855	0	0	0	1	0	87	855					C	55890321	T	C	55890321	3	2	79	1	0	0	0	0	1	0	0	0	11281	1667	58	4	475	4	OR8H3	11	55890321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137	55890321	79116195	12057	22374											
OR8J3	81168	broad.mit.edu	37	chr11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agattgatgatagctagatgTctcaggaaaaagtacatggg	12	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(190-192)agA>agT		olfactory receptor, family 8, subfamily J, member 3							143	139	140					11																	55905003		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905003T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.192A>T	11.37:g.55905003T>A	ENSP00000301529:p.Arg64Ser						p.R64S	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	191	-	Esophageal squamous(21;0.00693)		64					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.192A>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	OR8J3	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA		0.433	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		136	563	0	0	0	1	0	136	563					A	55905003	T	A	55905003	3	1	79	1	0	0	0	0	1	0	0	0	11284	1664	58	5	757	5	OR8J3	11	55905003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14682	55905003	79101513	12058	22375											
OR8K5	219453	broad.mit.edu	37	chr11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaagagtagagacccataGaacacaaccaccactgtcaa	7	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(751-753)ttC>ttA		olfactory receptor, family 8, subfamily K, member 5							98	89	92					11																	55927041		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927041G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.753C>A	11.37:g.55927041G>T	ENSP00000323853:p.Phe251Leu						p.F251L	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	752	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	251					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.753C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322342	0.60634	.	.	ENSG00000181752	ENST00000313447	T	0.00285	8.3	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00608	0.0020	M	0.83692	2.655	0.26738	N	0.970449	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	10	0.56958	D	0.05	.	8.3924	0.32537	0.1134:0.0:0.8866:0.0	.	251	Q8NH50	OR8K5_HUMAN	L	251	ENSP00000323853:F251L	ENSP00000323853:F251L	F	-	3	2	OR8K5	55683617	0.000000	0.05858	0.990000	0.47175	0.977000	0.68977	-0.172000	0.09868	2.202000	0.70862	0.465000	0.42564	TTC		0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		66	282	1	0	3.13743e-37	1	3.76563e-37	66	282					T	55927041	G	T	55927041	3	4	79	1	0	0	0	0	1	0	0	0	11287	933	33	3	173	3	OR8K5	11	55927041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22038	55927041	79079475	12059	22376											
OR8K5	219453	broad.mit.edu	37	chr11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtgctgtagagatatTgaatgcccaccagtacatga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(442-444)cAa>cCa		olfactory receptor, family 8, subfamily K, member 5							90	91	90					11																	55927351		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927351T>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.443A>C	11.37:g.55927351T>G	ENSP00000323853:p.Gln148Pro						p.Q148P	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	442	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	148					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.443A>C	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.573329	0.00131	.	.	ENSG00000181752	ENST00000313447	T	0.36520	1.25	4.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.110804	0.41001	N	0.000980	T	0.06188	0.0160	N	0.00095	-2.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.07175	T	0.84	.	8.1569	0.31173	0.0873:0.0:0.7549:0.1577	.	148	Q8NH50	OR8K5_HUMAN	P	148	ENSP00000323853:Q148P	ENSP00000323853:Q148P	Q	-	2	0	OR8K5	55683927	0.000000	0.05858	0.022000	0.16811	0.358000	0.29455	-0.388000	0.07352	0.503000	0.28060	-1.479000	0.00991	CAA		0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		59	341	0	0	0	1	0	59	341					G	55927351	T	G	55927351	3	3	79	1	0	0	0	0	1	0	0	0	11287	1812	63	4	483	4	OR8K5	11	55927351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	55927351	79079165	12060	22377											
OR5T1	390155	broad.mit.edu	37	chr11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcaatggcttatgatcGctatgtagccatctacaacc	9	11	1	1	rs569178244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, 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)			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)					GCTTATGATCGCTATGTAGCC	0.413													g|||	2	0.000399361	0.0	0.0	5008	,	,		20817	0.002		0.0	False		,,,				2504	0.0					ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(400-402)cGc>cAc		olfactory receptor, family 5, subfamily T, member 1							217	189	198					11																	56043515		2201	4294	6495	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043515G>A	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.401G>A	11.37:g.56043515G>A	ENSP00000323612:p.Arg134His						p.R134H	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	487	+	Esophageal squamous(21;0.00448)		134					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.401G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881976	0.51908	.	.	ENSG00000181698	ENST00000313033	T	0.77489	-1.1	3.44	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.79446	0.4447	M	0.90019	3.08	0.30003	N	0.815822	B	0.28552	0.215	B	0.27715	0.082	T	0.77859	-0.2431	10	0.72032	D	0.01	.	9.96	0.41691	0.1046:0.0:0.8954:0.0	.	134	Q8NG75	OR5T1_HUMAN	H	134	ENSP00000323612:R134H	ENSP00000323612:R134H	R	+	2	0	OR5T1	55800091	0.795000	0.28851	0.070000	0.20053	0.971000	0.66376	4.024000	0.57218	0.795000	0.33922	0.465000	0.42564	CGC		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		150	865	0	0	0	1	0	150	865					A	56043515	G	A	56043515	3	1	79	1	0	0	0	0	1	0	0	0	11223	1087	38	1	403	1	OR5T1	11	56043515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116164	56043515	78963001	12061	22378											
OR5T1	390155	broad.mit.edu	37	chr11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccatcatctacagtttgCggaacaaagatgtaaaggag	9	8	2	1	rs374592813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305W(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)					CTACAGTTTGCGGAACAAAGA	0.338													c|||	4	0.000798722	0.0015	0.0	5008	,	,		20909	0.0		0.0	False		,,,				2504	0.002					ENST00000313033.2																			1	Substitution - Missense(1)	p.R305W(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(913-915)Cgg>Tgg		olfactory receptor, family 5, subfamily T, member 1		C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	99	94	95		913	2.5	1	11		95	0,8592		0,0,4296	no	missense	OR5T1	NM_001004745.1	101	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	305/327	56044027	1,12993	2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56044027C>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.913C>T	11.37:g.56044027C>T	ENSP00000323612:p.Arg305Trp						p.R305W	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	999	+	Esophageal squamous(21;0.00448)		305					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.913C>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	OR5T1	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG		0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		24	508	0	0	0	1	0	24	508					T	56044027	C	T	56044027	3	4	79	1	0	0	0	0	1	0	0	0	11223	759	27	1	915	1	OR5T1	11	56044027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	56044027	78962489	12062	22379											
OR8J1	219477	broad.mit.edu	37	chr11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcctgcaacatctggCtctcattaatcttggtaact	5	11	3	0	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAACATCTGGCTCTCATTAAT	0.443																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(199-201)gCt>gTt		olfactory receptor, family 8, subfamily J, member 1		C	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	171	153	159		200	4.6	0.5	11	dbSNP_134	159	0,8592		0,0,4296	no	missense	OR8J1	NM_001005205.2	64	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	67/317	56127922	1,12993	2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127922C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.200C>T	11.37:g.56127922C>T	ENSP00000304060:p.Ala67Val						p.A67V	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	232	+	Esophageal squamous(21;0.00448)		67					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.200C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068390	0.36470	2.27E-4	0.0	ENSG00000172487	ENST00000303039	T	0.03152	4.03	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.14570	0.0352	M	0.92738	3.34	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.15723	-1.0427	10	0.87932	D	0	.	12.2274	0.54468	0.0:0.8277:0.1723:0.0	.	67	Q8NGP2	OR8J1_HUMAN	V	67	ENSP00000304060:A67V	ENSP00000304060:A67V	A	+	2	0	OR8J1	55884498	0.000000	0.05858	0.485000	0.27403	0.092000	0.18411	1.193000	0.32162	2.255000	0.74692	0.643000	0.83706	GCT		0.443	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		116	488	0	0	0	1	0	116	488					T	56127922	C	T	56127922	3	4	79	1	0	0	0	0	1	0	0	0	11283	797	28	2	202	2	OR8J1	11	56127922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83895	56127922	78878594	12063	22380											
OR5R1	219479	broad.mit.edu	37	chr11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcagaatttccttcatgTgtgtgtctgagcaggacaga	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(577-579)cAc>cCc		olfactory receptor, family 5, subfamily R, member 1							99	84	89					11																	56185131		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185131T>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.578A>C	11.37:g.56185131T>G	ENSP00000308595:p.His193Pro						p.H193P	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	577	-	Esophageal squamous(21;0.00448)		193						Missense_Mutation	SNP	ENST00000312253.1	37	c.578A>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.823943	0.50739	.	.	ENSG00000174942	ENST00000312253	T	0.00123	8.7	5.72	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.53313	0.723	T	0.46938	-0.9155	9	0.66056	D	0.02	-5.8915	9.1469	0.36939	0.0:0.403:0.0:0.597	.	193	Q8NH85	OR5R1_HUMAN	P	193	ENSP00000308595:H193P	ENSP00000308595:H193P	H	-	2	0	OR5R1	55941707	0.000000	0.05858	0.021000	0.16686	0.985000	0.73830	-1.065000	0.03458	0.096000	0.17463	0.472000	0.43445	CAC		0.423	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		79	266	0	0	0	1	0	79	266					G	56185131	T	G	56185131	3	3	79	1	0	0	0	0	1	0	0	0	11222	1696	59	4	398	4	OR5R1	11	56185131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57209	56185131	78821385	12064	22381											
OR5M9	390162	broad.mit.edu	37	chr11	56230077	56230077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccaccattttgccctgCtctacggattcctcagtggg	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTGCCCTGCTCTACGGATT	0.463																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(799-801)gaG>gaA		olfactory receptor, family 5, subfamily M, member 9							86	75	78					11																	56230077		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230077C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.801G>A	11.37:g.56230077C>T							p.E267E	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	800	-	Esophageal squamous(21;0.00448)		267					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.801G>A	CCDS31531.1																																																																																				0.463	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		60	285	0	0	0	1	0	60	285					T	56230077	C	T	56230077	2	4	79	1	0	0	0	0	0	0	0	1	11219	796	28	2		2	OR5M9	11	56230077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44946	56230077	78776439	12065	22382											
OR5M3	219482	broad.mit.edu	37	chr11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataatgacagctgtcagaTgggacccacatgtggaaaag	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGCTGTCAGATGGGACCCACA	0.473																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(724-726)cAt>cGt		olfactory receptor, family 5, subfamily M, member 3							59	57	58					11																	56237249		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237249T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.725A>G	11.37:g.56237249T>C	ENSP00000312208:p.His242Arg						p.H242R	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	765	-	Esophageal squamous(21;0.00448)		242					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.725A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024257	0.75390	.	.	ENSG00000174937	ENST00000312240	T	0.00311	8.15	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000482	T	0.01222	0.0040	H	0.98238	4.18	0.42064	D	0.991172	D	0.76494	0.999	D	0.78314	0.991	T	0.17992	-1.0351	10	0.72032	D	0.01	-15.4185	12.8019	0.57591	0.0:0.0:0.0:1.0	.	242	Q8NGP4	OR5M3_HUMAN	R	242	ENSP00000312208:H242R	ENSP00000312208:H242R	H	-	2	0	OR5M3	55993825	1.000000	0.71417	0.900000	0.35374	0.964000	0.63967	5.910000	0.69931	1.897000	0.54924	0.448000	0.29417	CAT		0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		63	277	0	0	0	1	0	63	277					C	56237249	T	C	56237249	3	2	79	1	0	0	0	0	1	0	0	0	11217	1464	51	4	200	4	OR5M3	11	56237249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7172	56237249	78769267	12066	22383											
OR5M3	219482	broad.mit.edu	37	chr11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgccataaagcagaggaTtcccaattgccatgtatcta	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGCAGAGGATTCCCAATTGC	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(376-378)aAt>aCt		olfactory receptor, family 5, subfamily M, member 3							95	89	91					11																	56237597		2201	4269	6470	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237597T>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.377A>C	11.37:g.56237597T>G	ENSP00000312208:p.Asn126Thr						p.N126T	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	417	-	Esophageal squamous(21;0.00448)		126					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.377A>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229209	0.09916	.	.	ENSG00000174937	ENST00000312240	T	0.00382	7.61	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.697951	0.12939	N	0.426758	T	0.00524	0.0017	M	0.87328	2.875	0.09310	N	1	B	0.30281	0.275	B	0.33121	0.158	T	0.30736	-0.9968	10	0.66056	D	0.02	-0.3966	9.4625	0.38794	0.0:0.0846:0.0:0.9154	.	126	Q8NGP4	OR5M3_HUMAN	T	126	ENSP00000312208:N126T	ENSP00000312208:N126T	N	-	2	0	OR5M3	55994173	0.000000	0.05858	0.032000	0.17829	0.003000	0.03518	0.620000	0.24403	0.809000	0.34255	0.391000	0.25812	AAT		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		101	523	0	0	0	1	0	101	523					G	56237597	T	G	56237597	3	3	79	1	0	0	0	0	1	0	0	0	11217	1493	52	4	548	4	OR5M3	11	56237597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	348	56237597	78768919	12067	22384											
OR5M11	219487	broad.mit.edu	37	chr11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaatgaaggcataggAcaccaagacgatggtgaggg	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(646-648)Tcc>Ccc		olfactory receptor, family 5, subfamily M, member 11							73	74	74					11																	56310088		2065	4230	6295	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310088A>G	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.646T>C	11.37:g.56310088A>G	ENSP00000432417:p.Ser216Pro						p.S216P	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	669	-			216					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.646T>C	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877410	0.51801	.	.	ENSG00000255223	ENST00000528616	T	0.46819	0.86	4.85	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75072	0.3800	H	0.95402	3.665	0.32543	N	0.533459	D	0.89917	1.0	D	0.81914	0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	9.9357	0.41550	0.8476:0.0:0.0:0.1524	.	216	Q96RB7	OR5MB_HUMAN	P	216	ENSP00000432417:S216P	ENSP00000432417:S216P	S	-	1	0	OR5M11	56066664	0.974000	0.33945	1.000000	0.80357	0.781000	0.44180	3.158000	0.50723	0.868000	0.35678	0.514000	0.50259	TCC		0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		53	224	0	0	0	1	0	53	224					G	56310088	A	G	56310088	3	3	79	1	0	0	0	0	1	0	0	0	11216	275	10	4	274	4	OR5M11	11	56310088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72491	56310088	78696428	12068	22385											
OR5M11	219487	broad.mit.edu	37	chr11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagcttaatgagcGgcgggtcagcacagtagaag	13	7	1	3	rs200285217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(544-546)cCg>cTg		olfactory receptor, family 5, subfamily M, member 11		A	LEU/PRO	0,4126		0,0,2063	46	48	48		545	2	0.5	11		48	4,8436		0,4,4216	yes	missense	OR5M11	NM_001005245.1	98	0,4,6279	AA,AG,GG		0.0474,0.0,0.0318	probably-damaging	182/306	56310189	4,12562	2063	4220	6283	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310189G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.545C>T	11.37:g.56310189G>A	ENSP00000432417:p.Pro182Leu						p.P182L	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	568	-			182					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.545C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	OR5M11	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		25	141	0	0	0	1	0	25	141					A	56310189	G	A	56310189	3	1	79	1	0	0	0	0	1	0	0	0	11216	1116	39	1	375	1	OR5M11	11	56310189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	56310189	78696327	12069	22386											
OR5M11	219487	broad.mit.edu	37	chr11	56310287	56310287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtccatctgagaagccataGacatagggaaatgtggccaa	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(445-447)gtC>gtT		olfactory receptor, family 5, subfamily M, member 11							43	46	45					11																	56310287		2114	4256	6370	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310287G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.447C>T	11.37:g.56310287G>A							p.V149V	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	470	-			149					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.447C>T	CCDS53629.1																																																																																				0.527	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		24	113	0	0	0	1	0	24	113					A	56310287	G	A	56310287	2	1	79	1	0	0	0	0	0	0	0	1	11216	929	33	2		2	OR5M11	11	56310287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	56310287	78696229	12070	22387											
OR5M10	390167	broad.mit.edu	37	chr11	56344805	56344805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggacatcctggaactgtaAtgtaaagggctgcaaatggc	12	7	0	0	rs370177204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(391-393)caT>caC		olfactory receptor, family 5, subfamily M, member 10		A		1,4005		0,1,2002	180	167	171		393	-4.8	0	11		171	0,8374		0,0,4187	no	coding-synonymous	OR5M10	NM_001004741.1		0,1,6189	GG,GA,AA		0.0,0.025,0.0081		131/316	56344805	1,12379	2003	4187	6190	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344805A>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.393T>C	11.37:g.56344805A>G							p.H131H	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	458	-			131					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.393T>C	CCDS53630.1																																																																																				0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		92	339	0	0	0	1	0	92	339					G	56344805	A	G	56344805	2	3	79	1	0	0	0	0	0	0	0	1	11215	98	4	4		4	OR5M10	11	56344805	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34518	56344805	78661711	12071	22388											
OR9G1	390174	broad.mit.edu	37	chr11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcttcaccacagacCcaggaatgcagctgggcctc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCACAGACCCAGGAATGCA	0.502																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(58-60)Cca>Tca		olfactory receptor, family 9, subfamily G, member 1							137	119	125					11																	56467921		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56467921C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.58C>T	11.37:g.56467921C>T	ENSP00000309012:p.Pro20Ser						p.P20S	NM_001005213.1	NP_001005213.1					1	58	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.58C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143221	0.09083	.	.	ENSG00000174914	ENST00000312153	T	0.00428	7.44	4.52	0.481	0.16809	.	0.000000	0.52532	D	0.000071	T	0.00328	0.0010	M	0.64170	1.965	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46762	-0.9168	10	0.49607	T	0.09	-25.9779	4.4132	0.11443	0.1288:0.597:0.1252:0.149	.	20	Q8NH87	OR9G1_HUMAN	S	20	ENSP00000309012:P20S	ENSP00000309012:P20S	P	+	1	0	OR9G1	56224497	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.416000	0.07097	0.229000	0.21039	-0.252000	0.11476	CCA		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		15	377	0	0	0	1	0	15	377					T	56467921	C	T	56467921	3	4	79	1	0	0	0	0	1	0	0	0	11292	623	22	2	60	2	OR9G1	11	56467921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123116	56467921	78538595	12072	22389											
OR5AK2	390181	broad.mit.edu	37	chr11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggttcatacatcatgGgctcaataaatgcctctgta	8	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATACATCATGGGCTCAATAAA	0.438																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(454-456)Ggc>Agc		olfactory receptor, family 5, subfamily AK, member 2							227	199	208					11																	56756842		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756842G>A	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.454G>A	11.37:g.56756842G>A	ENSP00000322784:p.Gly152Ser						p.G152S	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	496	+			152					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.454G>A	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921760	0.33908	.	.	ENSG00000181273	ENST00000326855	T	0.32988	1.43	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.173615	0.27442	N	0.019346	T	0.40767	0.1130	L	0.47078	1.49	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.20306	-1.0279	10	0.46703	T	0.11	-16.038	14.912	0.70764	0.0:0.0:1.0:0.0	.	152	Q8NH90	O5AK2_HUMAN	S	152	ENSP00000322784:G152S	ENSP00000322784:G152S	G	+	1	0	OR5AK2	56513418	0.982000	0.34865	0.051000	0.19133	0.085000	0.17905	3.704000	0.54815	2.142000	0.66516	0.194000	0.17425	GGC		0.438	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		40	775	0	0	0	1	0	40	775					A	56756842	G	A	56756842	3	1	79	1	0	0	0	0	1	0	0	0	11184	1232	43	2	456	2	OR5AK2	11	56756842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288921	56756842	78249674	12073	22390											
OR5AK2	390181	broad.mit.edu	37	chr11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctattcttgctcttTcatgctccaatgttgacatc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(562-564)Tca>Gca		olfactory receptor, family 5, subfamily AK, member 2							343	305	318					11																	56756950		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756950T>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.562T>G	11.37:g.56756950T>G	ENSP00000322784:p.Ser188Ala						p.S188A	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	604	+			188					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.562T>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	4.418	0.077324	0.08485	.	.	ENSG00000181273	ENST00000326855	T	0.00235	8.48	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	N	0.003332	T	0.00178	0.0005	L	0.28344	0.845	0.18873	N	0.999986	B	0.27316	0.175	B	0.35727	0.209	T	0.39663	-0.9603	10	0.40728	T	0.16	-11.9562	11.9306	0.52845	0.0:0.0:0.0:1.0	.	188	Q8NH90	O5AK2_HUMAN	A	188	ENSP00000322784:S188A	ENSP00000322784:S188A	S	+	1	0	OR5AK2	56513526	0.007000	0.16637	0.415000	0.26534	0.039000	0.13416	0.623000	0.24447	1.739000	0.51704	0.163000	0.16589	TCA		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		251	1058	0	0	0	1	0	251	1058					G	56756950	T	G	56756950	3	3	79	1	0	0	0	0	1	0	0	0	11184	1783	62	4	564	4	OR5AK2	11	56756950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	56756950	78249566	12074	22391											
LRRC55	219527	broad.mit.edu	37	chr11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttccaggaggcccatgGgctagtccacatcgacctga	11	13	0	1	rs368858600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	151					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(541-543)gGg>gAg		leucine rich repeat containing 55		G	GLU/GLY	0,4402		0,0,2201	43	42	42		542	5	0.8	11		42	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	98	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	181/342	56949909	1,12993	2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949909G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.542G>A	11.37:g.56949909G>A	ENSP00000419542:p.Gly181Glu						p.G181E	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	689	+			151					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.542G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350526	0.24512	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.56776	0.44	5.91	4.99	0.66335	.	0.339739	0.25786	N	0.028302	T	0.37376	0.1001	N	0.21373	0.66	0.21290	N	0.999738	B	0.06786	0.001	B	0.18263	0.021	T	0.21965	-1.0230	10	0.34782	T	0.22	.	9.813	0.40835	0.0767:0.1557:0.7677:0.0	.	151	Q6ZSA7	LRC55_HUMAN	E	181	ENSP00000419542:G181E	ENSP00000419542:G181E	G	+	2	0	LRRC55	56706485	0.353000	0.24904	0.788000	0.31933	0.979000	0.70002	2.139000	0.42149	1.467000	0.48044	0.655000	0.94253	GGG		0.612	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		58	214	0	0	0	1	0	58	214					A	56949909	G	A	56949909	3	1	79	1	0	0	0	0	1	0	0	0	9049	1232	43	2	544	2	LRRC55	11	56949909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192959	56949909	78056607	12075	22392											
LRRC55	219527	broad.mit.edu	37	chr11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctggaggctcttgagGgcctaccggggctggtgacc	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	197	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(679-681)Ggc>Agc		leucine rich repeat containing 55							72	72	72					11																	56950046		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950046G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.679G>A	11.37:g.56950046G>A	ENSP00000419542:p.Gly227Ser						p.G227S	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	826	+			197			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.679G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998161	0.54147	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.03220	0.0094	N	0.10782	0.045	0.32159	N	0.583233	B	0.25441	0.126	B	0.40864	0.342	T	0.47275	-0.9130	10	0.14252	T	0.57	.	14.3899	0.66970	0.0:0.1479:0.8521:0.0	.	197	Q6ZSA7	LRC55_HUMAN	S	227	ENSP00000419542:G227S	ENSP00000419542:G227S	G	+	1	0	LRRC55	56706622	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.068000	0.50018	2.724000	0.93272	0.561000	0.74099	GGC		0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		34	567	0	0	0	1	0	34	567					A	56950046	G	A	56950046	3	1	79	1	0	0	0	0	1	0	0	0	9049	1232	43	2	681	2	LRRC55	11	56950046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56950046	78056470	12076	22393											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068363	57068363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggtcacctaccctgaGgatttctctggcttgggagg	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1708	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTACCCTGAGGATTTCTCTG	0.552																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(5122-5124)tcC>tcT		tankyrase 1 binding protein 1, 182kDa							162	142	149					11																	57068363		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57068363G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5124C>T	11.37:g.57068363G>A						TNKS1BP1_ENST00000358252.3_Silent_p.S1708S	p.S1708S			Q9C0C2	TB182_HUMAN			9	5435	-		all_epithelial(135;0.21)	1708			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.5124C>T	CCDS7951.1																																																																																				0.552	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		137	613	0	0	0	1	0	137	613					A	57068363	G	A	57068363	2	1	79	1	0	0	0	0	0	0	0	1	16372	987	35	2		2	TNKS1BP1	11	57068363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118317	57068363	77938153	12077	22394											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctcttcacattaacatcaGaagtccagtccttctcccca	4	15	4	1	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3685-3687)tCt>tTt		tankyrase 1 binding protein 1, 182kDa							158	171	167					11																	57076499		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076499G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3686C>T	11.37:g.57076499G>A	ENSP00000437271:p.Ser1229Phe					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F	p.S1229F			Q9C0C2	TB182_HUMAN			5	3997	-		all_epithelial(135;0.21)	1229			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3686C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185709	0.38609	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	0.667	0.17907	.	0.907000	0.09290	N	0.822392	T	0.39911	0.1096	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.22173	-1.0224	10	0.72032	D	0.01	-3.2115	4.4738	0.11726	0.0804:0.2886:0.482:0.1489	.	1229	Q9C0C2	TB182_HUMAN	F	1229	ENSP00000350990:S1229F;ENSP00000437271:S1229F	ENSP00000350990:S1229F	S	-	2	0	TNKS1BP1	56833075	0.043000	0.20138	0.017000	0.16124	0.501000	0.33797	0.663000	0.25053	0.152000	0.19188	0.462000	0.41574	TCT		0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		355	1395	0	0	0	1	0	355	1395					A	57076499	G	A	57076499	3	1	79	1	0	0	0	0	1	0	0	0	16372	942	33	2	1527	2	TNKS1BP1	11	57076499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8136	57076499	77930017	12078	22395											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctcgctgggggccaAcactgaggctaaactcaccg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1094	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGGGCCAACACTGAGGCT	0.612																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3280-3282)gTt>gCt		tankyrase 1 binding protein 1, 182kDa							80	67	71					11																	57076904		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076904A>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3281T>C	11.37:g.57076904A>G	ENSP00000437271:p.Val1094Ala					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A	p.V1094A			Q9C0C2	TB182_HUMAN			5	3592	-		all_epithelial(135;0.21)	1094			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3281T>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065205	0.20067	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	4.85	2.33	0.28932	.	0.498700	0.16510	N	0.211295	T	0.22936	0.0554	N	0.21142	0.635	0.09310	N	1	D	0.56287	0.975	P	0.53062	0.717	T	0.08310	-1.0728	10	0.10111	T	0.7	-3.9478	4.1775	0.10358	0.5689:0.1727:0.0:0.2584	.	1094	Q9C0C2	TB182_HUMAN	A	1094	ENSP00000350990:V1094A;ENSP00000437271:V1094A	ENSP00000350990:V1094A	V	-	2	0	TNKS1BP1	56833480	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.067000	0.11579	0.691000	0.31592	0.379000	0.24179	GTT		0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		87	302	0	0	0	1	0	87	302					G	57076904	A	G	57076904	3	3	79	1	0	0	0	0	1	0	0	0	16372	43	2	4	1932	4	TNKS1BP1	11	57076904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405	57076904	77929612	12079	22396											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077332	57077332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaagcgctcttcccaaaCtcctgttcctgtggctccgc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	951	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTCCCAAACTCCTGTTCCT	0.592																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2851-2853)gaG>gaA		tankyrase 1 binding protein 1, 182kDa							96	108	104					11																	57077332		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077332C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2853G>A	11.37:g.57077332C>T						TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E	p.E951E			Q9C0C2	TB182_HUMAN			5	3164	-		all_epithelial(135;0.21)	951			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2853G>A	CCDS7951.1																																																																																				0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		151	697	0	0	0	1	0	151	697					T	57077332	C	T	57077332	2	4	79	1	0	0	0	0	0	0	0	1	16372	564	20	2		2	TNKS1BP1	11	57077332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	57077332	77929184	12080	22397											
SSRP1	6749	broad.mit.edu	37	chr11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaatcaaacagtttcCcgtactcctccctgtgaggg	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	412					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1234-1236)gGg>gAg		structure specific recognition protein 1							154	123	134					11																	57098390		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57098390C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1235G>A	11.37:g.57098390C>T	ENSP00000278412:p.Gly412Glu						p.G412E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			10	1501	-			412					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1235G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317282	0.60524	.	.	ENSG00000149136	ENST00000278412	T	0.41065	1.01	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.25890	0.77	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.05022	-1.0911	10	0.07482	T	0.82	-24.3985	15.5356	0.76001	0.0:1.0:0.0:0.0	.	412	Q08945	SSRP1_HUMAN	E	412	ENSP00000278412:G412E	ENSP00000278412:G412E	G	-	2	0	SSRP1	56854966	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.029000	0.76477	2.423000	0.82170	0.555000	0.69702	GGG		0.493	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		38	226	0	0	0	1	0	38	226					T	57098390	C	T	57098390	3	4	79	1	0	0	0	0	1	0	0	0	15246	623	22	2	926	2	SSRP1	11	57098390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21058	57098390	77908126	12081	22398											
SSRP1	6749	broad.mit.edu	37	chr11	57102123	57102123	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacctcagtcgaccatcattCtgtaagaaaagcaggcccag	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.e3-1		structure specific recognition protein 1							128	120	122					11																	57102123		2201	4296	6497	SO:0001630	splice_region_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57102123C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.55-1G>A	11.37:g.57102123C>T								NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			3	321	-								Q5BJG8	Splice_Site	SNP	ENST00000278412.2	37		CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909000	0.72868	.	.	ENSG00000149136	ENST00000278412	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.09	0.97815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSRP1	56858699	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.216000	0.77974	2.848000	0.98002	0.655000	0.94253	.		0.502	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	Intron	88	429	0	0	0	1	0	88	429					T	57102123	C	T	57102123	5	4	79	1	0	0	0	0	0	0	1	0	15246	927	32	2	2135	2	SSRP1	11	57102123	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3733	57102123	77904393	12082	22399											
PRG2	5553	broad.mit.edu	37	chr11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctgacagaacactggattCgataattaatattgaagttg	9	6	0	3	rs375145993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	ACACTGGATTCGATAATTAAT	0.488													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20035	0.0		0.001	False		,,,				2504	0.0					ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(430-432)cGa>cAa		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	149	140	143		431	-10.6	0	11		143	0,8592		0,0,4296	no	missense	PRG2	NM_002728.4	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		144/223	57156117	1,12993	2201	4296	6497	SO:0001583	missense	5553							g.chr11:57156117C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.431G>A	11.37:g.57156117C>T	ENSP00000312134:p.Arg144Gln					PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	504	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.431G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033745	0.19590	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18502	2.21;2.21;2.21	5.32	-10.6	0.00265	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450750	0.04539	N	0.387862	T	0.06508	0.0167	N	0.05177	-0.1	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.15870	0.001;0.014	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.5745	0.39450	0.216:0.5966:0.0:0.1874	.	133;144	A6XMW0;P13727	.;PRG2_HUMAN	Q	144;133;144	ENSP00000312134:R144Q;ENSP00000433231:R133Q;ENSP00000433016:R144Q	ENSP00000312134:R144Q	R	-	2	0	PRG2	56912693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.161000	0.00283	-1.470000	0.01888	-2.087000	0.00375	CGA		0.488	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		168	718	0	0	0	1	0	168	718					T	57156117	C	T	57156117	3	4	79	1	0	0	0	0	1	0	0	0	12526	884	31	1	249	1	PRG2	11	57156117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53994	57156117	77850399	12083	22400											
SLC43A3	29015	broad.mit.edu	37	chr11	57193571	57193571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccagccaaagaggacGccagcaaagcccaggcattc	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	25					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(73-75)ggC>ggT		solute carrier family 43, member 3							94	95	95					11																	57193571		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57193571G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.75C>T	11.37:g.57193571G>A						SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G	p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			3	379	-			25					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.75C>T	CCDS7956.1																																																																																				0.557	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		131	529	0	0	0	1	0	131	529					A	57193571	G	A	57193571	2	1	79	1	0	0	0	0	0	0	0	1	14684	1074	38	1		1	SLC43A3	11	57193571	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37454	57193571	77812945	12084	22401											
SERPING1	710	broad.mit.edu	37	chr11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaccctgtacagcaGcagccccagagtcctaagca	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000278407.4	+	5	964	c.737G>T	c.(736-738)aGc>aTc	p.S246I	SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	246					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(838-840)aGc>aTc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							187	172	177					11																	57373534		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373534G>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.737G>T	11.37:g.57373534G>T	ENSP00000278407:p.Ser246Ile					SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000278407.4_Missense_Mutation_p.S246I	p.S280I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			4	1205	+			246					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.839G>T	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806050	0.50421	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.23	2.22	0.28083	Serpin domain (3);	0.426738	0.28036	N	0.016851	D	0.90549	0.7038	M	0.86864	2.845	0.37094	D	0.899581	D;D;D;D	0.76494	0.99;0.999;0.99;0.99	P;D;P;P	0.68192	0.904;0.956;0.904;0.904	D	0.89377	0.3679	10	0.87932	D	0	.	4.7356	0.12986	0.1933:0.1795:0.6271:0.0	.	251;280;246;246	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	246;246;251;194;280	ENSP00000278407:S246I;ENSP00000341861:S246I;ENSP00000367574:S251I;ENSP00000367575:S194I;ENSP00000384420:S280I	ENSP00000278407:S246I	S	+	2	0	SERPING1	57130110	0.240000	0.23847	1.000000	0.80357	0.333000	0.28666	0.306000	0.19279	0.552000	0.29026	0.561000	0.74099	AGC		0.547	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		126	598	1	0	1.33314e-76	1	1.70118e-76	126	598					T	57373534	G	T	57373534	3	4	79	1	0	0	0	0	1	0	0	0	14166	971	34	3	751	3	SERPING1	11	57373534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179963	57373534	77632982	12085	22402											
ZDHHC5	25921	broad.mit.edu	37	chr11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaataactgtattggtcGccggaactaccgttattttt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	143					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(427-429)cGc>cAc		zinc finger, DHHC-type containing 5							157	151	153					11																	57457546		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57457546G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.428G>A	11.37:g.57457546G>A	ENSP00000287169:p.Arg143His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	p.R143H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			5	1790	+			143					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.428G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687494	0.96784	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.23	5.23	0.72850	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.056441	0.64402	N	0.000001	T	0.47395	0.1443	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.42515	-0.9447	10	0.87932	D	0	-12.894	18.5851	0.91187	0.0:0.0:1.0:0.0	.	143	Q9C0B5	ZDHC5_HUMAN	H	90;143;41;41	ENSP00000432202:R90H;ENSP00000287169:R143H;ENSP00000431209:R41H;ENSP00000435593:R41H	ENSP00000287169:R143H	R	+	2	0	ZDHHC5	57214122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.714000	0.92807	0.563000	0.77884	CGC		0.458	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		140	604	0	0	0	1	0	140	604					A	57457546	G	A	57457546	3	1	79	1	0	0	0	0	1	0	0	0	17671	1087	38	1	442	1	ZDHHC5	11	57457546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84012	57457546	77548970	12086	22403											
TMX2	51075	broad.mit.edu	37	chr11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaggaggaactagaaCgggacaagagggtcacttgg	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	152	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(454-456)Cgg>Tgg		thioredoxin-related transmembrane protein 2							157	145	149					11																	57506148		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506148C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.454C>T	11.37:g.57506148C>T	ENSP00000278422:p.Arg152Trp					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	p.R152W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	466	+			152			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.454C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275613	0.40294	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03441	3.93;3.93	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.209158	0.39407	U	0.001366	T	0.11965	0.0291	M	0.67625	2.065	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	P;P	0.58928	0.788;0.848	T	0.00453	-1.1730	10	0.87932	D	0	-11.7709	9.7442	0.40437	0.1413:0.7884:0.0:0.0704	.	114;152	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	114;152	ENSP00000367562:R114W;ENSP00000278422:R152W	ENSP00000278422:R152W	R	+	1	2	TMX2	57262724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.331000	0.33793	1.495000	0.48549	0.655000	0.94253	CGG		0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		86	444	0	0	0	1	0	86	444					T	57506148	C	T	57506148	3	4	79	1	0	0	0	0	1	0	0	0	16319	527	19	1	472	1	TMX2	11	57506148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48602	57506148	77500368	12087	22404											
CTNND1	1500	broad.mit.edu	37	chr11	57564342	57564342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcgctttcatccagaGccttatgggctagaggatga	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000399050.4	+	6	1370	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000524630.1_Silent_p.E278E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000532649.1_Silent_p.E224E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	278					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(832-834)gaG>gaA		catenin (cadherin-associated protein), delta 1							125	134	131					11																	57564342		2132	4249	6381	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564342G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.834G>A	11.37:g.57564342G>A						CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000399050.4_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000532649.1_Silent_p.E224E	p.E278E			O60716	CTND1_HUMAN			6	1347	+		all_epithelial(135;0.155)	278					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.834G>A	CCDS44604.1																																																																																				0.557	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		162	723	0	0	0	1	0	162	723					A	57564342	G	A	57564342	2	1	79	1	0	0	0	0	0	0	0	1	4030	962	34	2		2	CTNND1	11	57564342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58194	57564342	77442174	12088	22405											
OR6Q1	219952	broad.mit.edu	37	chr11	57799000	57799000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccttgctagccttgtcGtgctcagatgtcacttggaa	9	12	3	1	rs528605468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24556	0.0		0.0	False		,,,				2504	0.001					ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)tcG>tcA		olfactory receptor, family 6, subfamily Q, member 1							253	223	233					11																	57799000		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799000G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.576G>A	11.37:g.57799000G>A						OR9Q1_ENST00000335397.3_Intron	p.S192S	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	599	+		Breast(21;0.0707)|all_epithelial(135;0.142)	192					B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.576G>A	CCDS31541.1																																																																																				0.498	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		30	691	0	0	0	1	0	30	691					A	57799000	G	A	57799000	2	1	79	1	0	0	0	0	0	0	0	1	11250	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234658	57799000	77207516	12089	22406											
OR1S1	219959	broad.mit.edu	37	chr11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttcagatcggcagaAatatgcatcaaggaaaccaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GATCGGCAGAAATATGCATCA	0.403																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(37-39)Aat>Gat		olfactory receptor, family 1, subfamily S, member 1							158	143	148					11																	57982253		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982253A>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.37A>G	11.37:g.57982253A>G	ENSP00000311688:p.Asn13Asp						p.N13D	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	37	+		Breast(21;0.0589)	13					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.37A>G	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078147	0.01903	.	.	ENSG00000172774	ENST00000309433	T	0.57752	0.38	3.4	0.804	0.18697	.	0.345842	0.20757	N	0.086256	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08046	-1.0741	10	0.30854	T	0.27	.	3.6178	0.08083	0.691:0.0:0.1169:0.1921	.	13	Q8NH92	OR1S1_HUMAN	D	13	ENSP00000311688:N13D	ENSP00000311688:N13D	N	+	1	0	OR1S1	57738829	0.015000	0.18098	0.978000	0.43139	0.170000	0.22686	1.714000	0.37961	0.361000	0.24292	0.392000	0.25879	AAT		0.403	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		71	405	0	0	0	1	0	71	405					G	57982253	A	G	57982253	3	3	79	1	0	0	0	0	1	0	0	0	11014	14	1	4	39	4	OR1S1	11	57982253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	183253	57982253	77024263	12090	22407											
OR1S1	219959	broad.mit.edu	37	chr11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcatcaaggaaaccaaAccaccatcactgaattcatt	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGGAAACCAAACCACCATCAC	0.413																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(58-60)Acc>Gcc		olfactory receptor, family 1, subfamily S, member 1							193	176	182					11																	57982274		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982274A>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.58A>G	11.37:g.57982274A>G	ENSP00000311688:p.Thr20Ala						p.T20A	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	58	+		Breast(21;0.0589)	20					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.58A>G	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347191	0.24426	.	.	ENSG00000172774	ENST00000309433	T	0.04406	3.63	3.45	3.45	0.39498	.	0.000000	0.50627	D	0.000111	T	0.11707	0.0285	M	0.88704	2.975	0.09310	N	1	D	0.54207	0.965	P	0.44518	0.452	T	0.16928	-1.0386	10	0.72032	D	0.01	.	9.8205	0.40880	1.0:0.0:0.0:0.0	.	20	Q8NH92	OR1S1_HUMAN	A	20	ENSP00000311688:T20A	ENSP00000311688:T20A	T	+	1	0	OR1S1	57738850	0.016000	0.18221	0.424000	0.26647	0.014000	0.08584	2.735000	0.47377	1.443000	0.47586	0.392000	0.25879	ACC		0.413	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		97	462	0	0	0	1	0	97	462					G	57982274	A	G	57982274	3	3	79	1	0	0	0	0	1	0	0	0	11014	43	2	4	60	4	OR1S1	11	57982274	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	57982274	77024242	12091	22408											
OR10Q1	219960	broad.mit.edu	37	chr11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggcagatagccacaTagcggtcataggccatgatc	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y127F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607																																						ENST00000316770.2																			1	Substitution - Missense(1)	p.Y127F(1)	breast(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(379-381)tAt>tGt		olfactory receptor, family 10, subfamily Q, member 1							88	74	79					11																	57995968		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995968T>C	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.380A>G	11.37:g.57995968T>C	ENSP00000314324:p.Tyr127Cys						p.Y127C	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	422	-		Breast(21;0.0589)	127					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.380A>G	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432837	0.25813	.	.	ENSG00000180475	ENST00000316770	T	0.56444	0.46	4.45	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.196371	0.25172	N	0.032585	T	0.67468	0.2896	M	0.81239	2.535	0.29356	N	0.865038	D	0.89917	1.0	D	0.68621	0.959	T	0.63251	-0.6679	10	0.66056	D	0.02	.	5.8888	0.18896	0.1485:0.084:0.0:0.7675	.	127	Q8NGQ4	O10Q1_HUMAN	C	127	ENSP00000314324:Y127C	ENSP00000314324:Y127C	Y	-	2	0	OR10Q1	57752544	0.999000	0.42202	0.010000	0.14722	0.057000	0.15508	3.287000	0.51732	0.720000	0.32209	0.455000	0.32223	TAT		0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		44	177	0	0	0	1	0	44	177					C	57995968	T	C	57995968	3	2	79	1	0	0	0	0	1	0	0	0	10958	1406	49	4	583	4	OR10Q1	11	57995968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13694	57995968	77010548	12092	22409											
OR5B3	441608	broad.mit.edu	37	chr11	58170060	58170060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgaccattgtatagaAcacaggtgccattttgtctg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170060A>G	ENST00000309403.2	-	1	822	c.823T>C	c.(823-825)Ttc>Ctc	p.F275L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTGTATAGAACACAGGTGCC	0.433																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(823-825)Ttc>Ctc		olfactory receptor, family 5, subfamily B, member 3							127	116	120					11																	58170060		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170060A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.823T>C	11.37:g.58170060A>G	ENSP00000308270:p.Phe275Leu						p.F275L	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	822	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	275					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.823T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	12.42	1.932954	0.34096	.	.	ENSG00000172769	ENST00000309403	T	0.00032	8.88	4.06	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	T	0.00210	0.0006	L	0.55481	1.735	0.28989	N	0.888178	P	0.44877	0.845	P	0.50825	0.651	T	0.29579	-1.0007	10	0.66056	D	0.02	-80.9222	5.6049	0.17374	0.6909:0.0:0.3091:0.0	.	275	Q8NH48	OR5B3_HUMAN	L	275	ENSP00000308270:F275L	ENSP00000308270:F275L	F	-	1	0	OR5B3	57926636	0.024000	0.19004	0.993000	0.49108	0.136000	0.21042	1.232000	0.32636	0.728000	0.32382	-0.250000	0.11733	TTC		0.433	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		8	413	0	0	0	1	0	8	413					G	58170060	A	G	58170060	3	3	79	1	0	0	0	0	1	0	0	0	11194	43	2	4	123	4	OR5B3	11	58170060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174092	58170060	76836456	12093	22410											
OR5B3	441608	broad.mit.edu	37	chr11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcacactgctgcatagCggtcataggccattgaggcc	12	11	1	1	rs546163469	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22807	0.0		0.0	False		,,,				2504	0.0					ENST00000309403.2																			1	Substitution - Missense(1)	p.R120L(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(358-360)cGc>cAc		olfactory receptor, family 5, subfamily B, member 3							131	117	122					11																	58170524		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170524C>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.359G>A	11.37:g.58170524C>T	ENSP00000308270:p.Arg120His						p.R120H	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.359G>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547375	0.45383	.	.	ENSG00000172769	ENST00000309403	T	0.77489	-1.1	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.77485	0.4137	M	0.85630	2.765	0.35002	D	0.756051	P	0.50369	0.934	B	0.40602	0.334	D	0.84664	0.0708	10	0.66056	D	0.02	-27.9791	10.5958	0.45336	0.0:0.9022:0.0:0.0978	.	120	Q8NH48	OR5B3_HUMAN	H	120	ENSP00000308270:R120H	ENSP00000308270:R120H	R	-	2	0	OR5B3	57927100	0.985000	0.35326	0.999000	0.59377	0.517000	0.34286	2.456000	0.44997	1.023000	0.39654	-0.237000	0.12165	CGC		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		91	450	0	0	0	1	0	91	450					T	58170524	C	T	58170524	3	4	79	1	0	0	0	0	1	0	0	0	11194	768	27	1	587	1	OR5B3	11	58170524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	58170524	76835992	12094	22411											
OR5B12	390191	broad.mit.edu	37	chr11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcacaagtagaaaagGccttctggcgtccttcaggt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(703-705)gCc>gTc		olfactory receptor, family 5, subfamily B, member 12							78	75	76					11																	58206921		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206921G>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.704C>T	11.37:g.58206921G>A	ENSP00000306657:p.Ala235Val						p.A235V	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	725	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	235					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.704C>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016010	0.75161	.	.	ENSG00000172362	ENST00000302572	T	0.00342	8.03	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.139797	0.32852	N	0.005562	T	0.00724	0.0024	M	0.80847	2.515	0.45867	D	0.998727	P	0.43169	0.8	P	0.55161	0.77	T	0.74853	-0.3523	10	0.62326	D	0.03	-24.8721	16.2624	0.82553	0.0:0.0:1.0:0.0	.	235	Q96R08	OR5BC_HUMAN	V	235	ENSP00000306657:A235V	ENSP00000306657:A235V	A	-	2	0	OR5B12	57963497	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.742000	0.55097	2.383000	0.81215	0.462000	0.41574	GCC		0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		66	272	0	0	0	1	0	66	272					A	58206921	G	A	58206921	3	1	79	1	0	0	0	0	1	0	0	0	11190	1203	42	2	244	2	OR5B12	11	58206921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36397	58206921	76799595	12095	22412											
OR5B12	390191	broad.mit.edu	37	chr11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgttcaactacattggatCtacagaaggagagcctgaaa	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(502-504)aGa>aTa		olfactory receptor, family 5, subfamily B, member 12							118	108	111					11																	58207122		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207122C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.503G>T	11.37:g.58207122C>A	ENSP00000306657:p.Arg168Ile						p.R168I	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	524	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	168					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.503G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117468	0.20877	.	.	ENSG00000172362	ENST00000302572	T	0.37058	1.22	4.3	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.743067	0.12175	N	0.492642	T	0.27731	0.0682	L	0.48362	1.52	0.09310	N	1	B	0.31077	0.307	B	0.32342	0.144	T	0.21965	-1.0230	10	0.46703	T	0.11	-24.6222	6.1961	0.20550	0.0:0.3526:0.1345:0.5129	.	168	Q96R08	OR5BC_HUMAN	I	168	ENSP00000306657:R168I	ENSP00000306657:R168I	R	-	2	0	OR5B12	57963698	0.000000	0.05858	0.005000	0.12908	0.704000	0.40688	-0.318000	0.08050	-0.009000	0.14296	0.462000	0.41574	AGA		0.428	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		59	316	1	0	1.0442e-30	1	1.22599e-30	59	316					A	58207122	C	A	58207122	3	1	79	1	0	0	0	0	1	0	0	0	11190	913	32	3	445	3	OR5B12	11	58207122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	58207122	76799394	12096	22413											
ZFP91	80829	broad.mit.edu	37	chr11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcagaagcaacttctgCgacatgccaaacatcataca	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	361	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAACTTCTGCGACATGCCAA	0.388																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1081-1083)Cga>Tga		ZFP91 zinc finger protein							92	83	86					11																	58381795		2201	4294	6495	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58381795C>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1081C>T	11.37:g.58381795C>T	ENSP00000339030:p.Arg361*					ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			9	1252	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	361			Interaction with MAP3K14/NIK.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.1081C>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811760	0.98504	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0583	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000374569:R361X	R	+	1	2	ZFP91	58138371	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA		0.388	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		31	203	0	0	0	1	0	31	203					T	58381795	C	T	58381795	4	4	79	1	0	0	0	0	0	1	0	0	17708	760	27	1	1115	1	ZFP91	11	58381795	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174673	58381795	76624721	12097	22414											
ZFP91	80829	broad.mit.edu	37	chr11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgccaatgcaggcGccctcatcaccagcacagat	9	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)Gcc>Acc		ZFP91 zinc finger protein							55	50	52					11																	58384868		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384868G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1402G>A	11.37:g.58384868G>A	ENSP00000339030:p.Ala468Thr					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1573	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	468					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1402G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC		0.537	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		54	203	0	0	0	1	0	54	203					A	58384868	G	A	58384868	3	1	79	1	0	0	0	0	1	0	0	0	17708	1087	38	1	1444	1	ZFP91	11	58384868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	58384868	76621648	12098	22415											
ZFP91	80829	broad.mit.edu	37	chr11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggttctgattgaagattcaGactctgccggaccttagtgg	12	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	566					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				tGAAGATTCAGACTCTGCCGG	0.443																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1696-1698)Gac>Tac		ZFP91 zinc finger protein							85	90	88					11																	58385162		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58385162G>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1696G>T	11.37:g.58385162G>T	ENSP00000339030:p.Asp566Tyr					ZFP91-CNTF_ENST00000389919.4_Intron	p.D566Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1867	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	566					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1696G>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837418	0.50951	.	.	ENSG00000186660	ENST00000316059	T	0.14893	2.47	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.32526	0.0832	L	0.29908	0.895	0.46701	D	0.999162	D	0.65815	0.995	D	0.68192	0.956	T	0.01643	-1.1305	10	0.87932	D	0	-20.1467	19.1254	0.93380	0.0:0.0:1.0:0.0	.	566	Q96JP5	ZFP91_HUMAN	Y	566	ENSP00000339030:D566Y	ENSP00000339030:D566Y	D	+	1	0	ZFP91	58141738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.826000	0.97356	0.655000	0.94253	GAC		0.443	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		22	546	1	0	1.36565e-18	1	1.51684e-18	22	546					T	58385162	G	T	58385162	3	4	79	1	0	0	0	0	1	0	0	0	17708	942	33	3	1738	3	ZFP91	11	58385162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	58385162	76621354	12099	22416											
GLYATL1	92292	broad.mit.edu	37	chr11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgctcggcccagagggagTcccggtctcatgggtaacca	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000317391.4	+	8	987	c.647T>A	c.(646-648)gTc>gAc	p.V216D	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V247D|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	216						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(739-741)gTc>gAc		glycine-N-acyltransferase-like 1	Glycine(DB00145)						52	50	50					11																	58723238		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723238T>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.647T>A	11.37:g.58723238T>A	ENSP00000322223:p.Val216Asp					RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.V216D	p.V247D	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	790	+			216					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.740T>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	1.884	-0.457231	0.04540	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16597	2.33;2.33	2.62	-5.25	0.02781	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.743380	0.03968	U	0.291199	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.30909	-0.9962	10	0.14656	T	0.56	.	3.8067	0.08780	0.5822:0.2383:0.0:0.1796	.	247;216	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	193;216;247	ENSP00000322223:V216D;ENSP00000300079:V247D	ENSP00000300079:V247D	V	+	2	0	GLYATL1	58479814	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.651000	0.00203	-0.886000	0.03966	0.338000	0.21704	GTC		0.532	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		41	206	0	0	0	1	0	41	206					A	58723238	T	A	58723238	3	1	79	1	0	0	0	0	1	0	0	0	6509	1667	58	5	766	5	GLYATL1	11	58723238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	338076	58723238	76283278	12100	22417											
FAM111A	63901	broad.mit.edu	37	chr11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcagagaaaagaaacAcctgtgtgttgagagaacaa	11	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	289					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GAAAAGAAACACCTGTGTGTT	0.378																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(865-867)Acc>Gcc		family with sequence similarity 111, member A							44	48	47					11																	58920006		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920006A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.865A>G	11.37:g.58920006A>G	ENSP00000434435:p.Thr289Ala					FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A	p.T289A			Q96PZ2	F111A_HUMAN			5	3683	+		all_epithelial(135;0.139)	289					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.865A>G	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089693	0.20390	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	-5.73	0.02398	.	1.275090	0.04949	N	0.459945	T	0.27933	0.0688	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16424	-1.0403	10	0.16896	T	0.51	-9.762	5.2132	0.15329	0.2643:0.1307:0.4914:0.1137	.	289	Q96PZ2	F111A_HUMAN	A	289	ENSP00000434435:T289A;ENSP00000406683:T289A;ENSP00000355264:T289A;ENSP00000433154:T289A;ENSP00000431631:T289A	ENSP00000355264:T289A	T	+	1	0	FAM111A	58676582	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.516000	0.02250	-1.056000	0.03205	0.528000	0.53228	ACC		0.378	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		52	266	0	0	0	1	0	52	266					G	58920006	A	G	58920006	3	3	79	1	0	0	0	0	1	0	0	0	5420	159	6	4	871	4	FAM111A	11	58920006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	196768	58920006	76086510	12101	22418											
FAM111A	63901	broad.mit.edu	37	chr11	58920677	58920677	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaaagtccagagtatgtCcatatgtatactcaaagaag	9	7	1	3	rs201314346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1534-1536)gtC>gtT		family with sequence similarity 111, member A							94	97	96					11																	58920677		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920677C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1536C>T	11.37:g.58920677C>T						FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V	p.V512V			Q96PZ2	F111A_HUMAN			5	4354	+		all_epithelial(135;0.139)	512					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.1536C>T	CCDS7973.1																																																																																				0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		108	471	0	0	0	1	0	108	471					T	58920677	C	T	58920677	2	4	79	1	0	0	0	0	0	0	0	1	5420	842	30	2		2	FAM111A	11	58920677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671	58920677	76085839	12102	22419											
DTX4	23220	broad.mit.edu	37	chr11	58949753	58949753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accattcgaggcccactgaaGaccgccccatcgcaggtgat	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	251					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(751-753)aaG>aaA		deltex homolog 4 (Drosophila)							34	46	42					11																	58949753		2115	4241	6356	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949753G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.753G>A	11.37:g.58949753G>A						DTX4_ENST00000532982.1_Silent_p.K145K	p.K251K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			2	857	+		all_epithelial(135;0.125)	251					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.753G>A	CCDS44612.1																																																																																				0.642	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		31	98	0	0	0	1	0	31	98					A	58949753	G	A	58949753	2	1	79	1	0	0	0	0	0	0	0	1	4813	933	33	2		2	DTX4	11	58949753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29076	58949753	76056763	12103	22420											
MPEG1	219972	broad.mit.edu	37	chr11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacattcatggccctccGcagctctatcggttctccca	8	15	3	1	rs369599067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	639						integral component of membrane (GO:0016021)				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)				ATGGCCCTCCGCAGCTCTATC	0.552																																						ENST00000361050.3																			0				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						c.(1915-1917)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,3931		0,1,1965	95	103	100		1915	5.7	0.9	11		100	0,8270		0,0,4135	no	missense	MPEG1	NM_001039396.1	101	0,1,6100	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging	639/717	58978424	1,12201	1966	4135	6101	SO:0001583	missense	219972					integral to membrane		g.chr11:58978424G>A	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.1915C>T	11.37:g.58978424G>A	ENSP00000354335:p.Arg639Trp						p.R639W	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2000	-		all_epithelial(135;0.125)	639					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1915C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484135	0.26598	2.54E-4	0.0	ENSG00000197629	ENST00000361050	T	0.24350	1.86	5.69	5.69	0.88448	.	0.466187	0.23481	N	0.047712	T	0.35219	0.0924	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.38112	-0.9676	10	0.66056	D	0.02	-13.3692	10.7561	0.46237	0.086:0.0:0.914:0.0	.	639	Q2M385	MPEG1_HUMAN	W	639	ENSP00000354335:R639W	ENSP00000354335:R639W	R	-	1	2	MPEG1	58735000	0.007000	0.16637	0.940000	0.37924	0.049000	0.14656	1.633000	0.37113	2.682000	0.91365	0.655000	0.94253	CGG		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		157	591	0	0	0	1	0	157	591					A	58978424	G	A	58978424	3	1	79	1	0	0	0	0	1	0	0	0	9764	1086	38	1	239	1	MPEG1	11	58978424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28671	58978424	76028092	12104	22421											
MPEG1	219972	broad.mit.edu	37	chr11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccatgtccacattccGcagattgtcccagccccctc	6	19	0	1	rs149377168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	55	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				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)				TCCACATTCCGCAGATTGTCC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20158	0.0		0.001	False		,,,				2504	0.0					ENST00000361050.3																			0				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						c.(163-165)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,4029		0,1,2014	158	158	158		163	2.1	1	11	dbSNP_134	158	8,8346		0,8,4169	yes	missense	MPEG1	NM_001039396.1	101	0,9,6183	AA,AG,GG		0.0958,0.0248,0.0727	probably-damaging	55/717	58980176	9,12375	2015	4177	6192	SO:0001583	missense	219972					integral to membrane		g.chr11:58980176G>A	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.163C>T	11.37:g.58980176G>A	ENSP00000354335:p.Arg55Trp						p.R55W	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	248	-		all_epithelial(135;0.125)	55			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.163C>T	CCDS41650.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.79	3.221692	0.58560	2.48E-4	9.58E-4	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.30182	1.54	5.41	2.07	0.26955	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.81497	2.545	0.41927	D	0.990546	D	0.89917	1.0	D	0.81914	0.995	T	0.61257	-0.7099	10	0.87932	D	0	-28.9473	12.4979	0.55940	0.0:0.0:0.5087:0.4913	.	55	Q2M385	MPEG1_HUMAN	W	55	ENSP00000354335:R55W	ENSP00000354335:R55W	R	-	1	2	MPEG1	58736752	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	0.603000	0.29913	0.644000	0.83932	CGG		0.488	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		178	699	0	0	0	1	0	178	699					A	58980176	G	A	58980176	3	1	79	1	0	0	0	0	1	0	0	0	9764	1086	38	1	1991	1	MPEG1	11	58980176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	58980176	76026340	12105	22422											
OR5A2	219981	broad.mit.edu	37	chr11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggcctttgtcctacCtgtagctgagctgatcttca	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(700-702)Ggt>Agt		olfactory receptor, family 5, subfamily A, member 2							108	98	101					11																	59189727		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189727C>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.700G>A	11.37:g.59189727C>T	ENSP00000303834:p.Gly234Ser						p.G234S	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	722	-			234					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.700G>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433395	0.96150	.	.	ENSG00000172324	ENST00000302040	T	0.00293	8.26	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002992	T	0.00784	0.0026	M	0.80332	2.49	0.34768	D	0.733422	D	0.89917	1.0	D	0.97110	1.0	T	0.66555	-0.5894	10	0.72032	D	0.01	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	234	Q8NGI9	OR5A2_HUMAN	S	234	ENSP00000303834:G234S	ENSP00000303834:G234S	G	-	1	0	OR5A2	58946303	0.536000	0.26378	0.576000	0.28549	0.753000	0.42808	2.016000	0.40971	2.787000	0.95880	0.650000	0.86243	GGT		0.478	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		39	185	0	0	0	1	0	39	185					T	59189727	C	T	59189727	3	4	79	1	0	0	0	0	1	0	0	0	11182	681	24	2	276	2	OR5A2	11	59189727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209551	59189727	75816789	12106	22423											
OR5A1	219982	broad.mit.edu	37	chr11	59211133	59211133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccctgatccaggccagCtccatatttaggcttcactt	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211133C>T	ENST00000302030.2	+	1	517	c.492C>T	c.(490-492)agC>agT	p.S164S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCAGGCCAGCTCCATATTTA	0.557																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(490-492)agC>agT		olfactory receptor, family 5, subfamily A, member 1							264	255	258					11																	59211133		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211133C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.492C>T	11.37:g.59211133C>T							p.S164S	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	517	+			164					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.492C>T	CCDS31561.1																																																																																				0.557	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		19	1604	0	0	0	1	0	19	1604					T	59211133	C	T	59211133	2	4	79	1	0	0	0	0	0	0	0	1	11181	796	28	2		2	OR5A1	11	59211133	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21406	59211133	75795383	12107	22424											
OR5A1	219982	broad.mit.edu	37	chr11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatggaaagcctgcaacaCgtgtgcctcgcatctgatgg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(727-729)aCg>aTg		olfactory receptor, family 5, subfamily A, member 1							288	235	253					11																	59211369		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211369C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.728C>T	11.37:g.59211369C>T	ENSP00000303096:p.Thr243Met						p.T243M	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	753	+			243					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.728C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473797	0.43942	.	.	ENSG00000172320	ENST00000302030	T	0.42513	0.97	5.98	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76314	0.3970	H	0.96662	3.86	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	10	0.87932	D	0	-29.9675	15.5041	0.75725	0.1393:0.8607:0.0:0.0	.	243	Q8NGJ0	OR5A1_HUMAN	M	243	ENSP00000303096:T243M	ENSP00000303096:T243M	T	+	2	0	OR5A1	58967945	1.000000	0.71417	0.160000	0.22671	0.002000	0.02628	4.858000	0.62947	1.532000	0.49169	0.650000	0.86243	ACG		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		185	777	0	0	0	1	0	185	777					T	59211369	C	T	59211369	3	4	79	1	0	0	0	0	1	0	0	0	11181	536	19	1	730	1	OR5A1	11	59211369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	59211369	75795147	12108	22425											
OR4D6	219983	broad.mit.edu	37	chr11	59225177	59225177	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccacatgctggtggtgacTcttcacttcgtgccttgtgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGTGACTCTTCACTTCG	0.552																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(742-744)acT>acA		olfactory receptor, family 4, subfamily D, member 6							119	108	112					11																	59225177		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225177T>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.744T>A	11.37:g.59225177T>A							p.T248T	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	767	+			248					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.744T>A	CCDS31562.1																																																																																				0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		16	442	0	0	0	1	0	16	442					A	59225177	T	A	59225177	2	1	79	1	0	0	0	0	0	0	0	1	11100	1538	54	5		5	OR4D6	11	59225177	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13808	59225177	75781339	12109	22426											
OR4D11	219986	broad.mit.edu	37	chr11	59271327	59271327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaaaaagaccatatcCtatacaagctgcatgacaca	5	10	1	3	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily D, member 11							188	178	181					11																	59271327		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271327C>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.279C>A	11.37:g.59271327C>A							p.S93S	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	279	+			93						Silent	SNP	ENST00000313253.1	37	c.279C>A	CCDS31563.1																																																																																				0.468	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		197	800	1	0	4.69411e-80	1	6.00157e-80	197	800					A	59271327	C	A	59271327	2	1	79	1	0	0	0	0	0	0	0	1	11097	668	24	3		3	OR4D11	11	59271327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46150	59271327	75735189	12110	22427											
PATL1	219988	broad.mit.edu	37	chr11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgcctatggggacagCtctaacaggaggactgccaa	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	189	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(565-567)Gct>Tct		protein associated with topoisomerase II homolog 1 (yeast)							129	123	125					11																	59425059		1915	4124	6039	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425059C>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.565G>T	11.37:g.59425059C>A	ENSP00000300146:p.Ala189Ser						p.A189S	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			5	649	-			189			Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.565G>T	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303311	0.81136	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.64	5.64	0.86602	.	0.175531	0.48286	D	0.000184	T	0.60521	0.2275	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.67103	0.915;0.949	T	0.50030	-0.8875	10	0.13470	T	0.59	-13.813	19.3278	0.94270	0.0:1.0:0.0:0.0	.	189;189	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	S	189	ENSP00000300146:A189S	ENSP00000300146:A189S	A	-	1	0	PATL1	59181635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.889000	0.63171	2.653000	0.90120	0.655000	0.94253	GCT		0.532	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		18	406	1	0	4.63292e-17	1	5.10507e-17	18	406					A	59425059	C	A	59425059	3	1	79	1	0	0	0	0	1	0	0	0	11517	797	28	3	1807	3	PATL1	11	59425059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153732	59425059	75581457	12111	22428											
STX3	6809	broad.mit.edu	37	chr11	59558002	59558002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctttaggcatggagaaGcatattgaagaagatgaggt	12	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59558002G>A	ENST00000337979.4	+	5	847	c.300G>A	c.(298-300)aaG>aaA	p.K100K	STX3_ENST00000535361.1_Silent_p.K100K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000300150.7_Silent_p.K69K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	100					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCATGGAGAAGCATATTGAAG	0.453																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(298-300)aaG>aaA		syntaxin 3							138	116	124					11																	59558002		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59558002G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.300G>A	11.37:g.59558002G>A						STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000337979.4_Silent_p.K100K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K	p.K100K			Q13277	STX3_HUMAN			5	847	+			100					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.300G>A	CCDS7975.1																																																																																				0.453	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		5	199	0	0	0	1	0	5	199					A	59558002	G	A	59558002	2	1	79	1	0	0	0	0	0	0	0	1	15398	962	34	2		2	STX3	11	59558002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132943	59558002	75448514	12112	22429											
STX3	6809	broad.mit.edu	37	chr11	59560891	59560891	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaagcaagccctcagtgaGattgagggacgacacaagga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000337979.4	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000300150.7_Silent_p.E162E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	193	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(577-579)gaG>gaA		syntaxin 3							115	92	100					11																	59560891		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59560891G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.579G>A	11.37:g.59560891G>A						STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000337979.4_Silent_p.E193E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E	p.E193E			Q13277	STX3_HUMAN			8	1126	+			193			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.579G>A	CCDS7975.1																																																																																				0.517	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		25	241	0	0	0	1	0	25	241					A	59560891	G	A	59560891	2	1	79	1	0	0	0	0	0	0	0	1	15398	933	33	2		2	STX3	11	59560891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2889	59560891	75445625	12113	22430											
STX3	6809	broad.mit.edu	37	chr11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggctggagagcagcaTcaaggagcttcacgacatgt	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000337979.4	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	208	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(622-624)aTc>aCc		syntaxin 3							137	109	118					11																	59560935		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59560935T>C	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.623T>C	11.37:g.59560935T>C	ENSP00000338562:p.Ile208Thr					STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000337979.4_Missense_Mutation_p.I208T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	p.I208T			Q13277	STX3_HUMAN			8	1170	+			208			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.623T>C	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587465	0.86851	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.096090	0.64402	D	0.000001	T	0.73575	0.3604	H	0.97829	4.085	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.87578	0.998;0.994;0.989;0.994	D	0.83883	0.0280	10	0.87932	D	0	-14.0091	13.7201	0.62720	0.0:0.0:0.0:1.0	.	111;208;208;208	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	177;208;208;111;208;160	ENSP00000300150:I177T;ENSP00000338562:I208T;ENSP00000441649:I208T;ENSP00000393536:I111T;ENSP00000433248:I208T;ENSP00000431386:I160T	ENSP00000300150:I177T	I	+	2	0	STX3	59317511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	1.909000	0.55274	0.528000	0.53228	ATC		0.527	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		43	225	0	0	0	1	0	43	225					C	59560935	T	C	59560935	3	2	79	1	0	0	0	0	1	0	0	0	15398	1435	50	4	653	4	STX3	11	59560935	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	59560935	75445581	12114	22431											
TCN1	6947	broad.mit.edu	37	chr11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcgaacctccaagttttCtccattgcggacaacgtaac	7	14	1	0	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	424	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1270-1272)Gaa>Aaa		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148	146	147					11																	59620480		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620480C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1270G>A	11.37:g.59620480C>T	ENSP00000257264:p.Glu424Lys						p.E424K	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			9	1374	-		all_epithelial(135;0.198)	424					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1270G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319130	0.60524	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	5.05	5.05	0.67936	.	0.192482	0.33290	N	0.005077	T	0.47581	0.1453	M	0.82193	2.58	0.25364	N	0.988751	D	0.54047	0.964	P	0.50314	0.637	T	0.51988	-0.8635	10	0.66056	D	0.02	7.206	13.7737	0.63039	0.0:1.0:0.0:0.0	.	424	P20061	TCO1_HUMAN	K	424	ENSP00000257264:E424K	ENSP00000257264:E424K	E	-	1	0	TCN1	59377056	0.665000	0.27466	0.932000	0.37286	0.107000	0.19398	2.374000	0.44274	2.620000	0.88729	0.650000	0.86243	GAA		0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		138	631	0	0	0	1	0	138	631					T	59620480	C	T	59620480	3	4	79	1	0	0	0	0	1	0	0	0	15758	922	32	2	35	2	TCN1	11	59620480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59545	59620480	75386036	12115	22432											
TCN1	6947	broad.mit.edu	37	chr11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcattgtattcaacagaGgttttaggcggatgtagttt	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	38	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(112-114)cCt>cAt		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						207	200	202					11																	59631526		2201	4294	6495	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631526G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.113C>A	11.37:g.59631526G>T	ENSP00000257264:p.Pro38His					TCN1_ENST00000532419.1_5'UTR	p.P38H	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			2	217	-		all_epithelial(135;0.198)	38					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.113C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899915	0.52227	.	.	ENSG00000134827	ENST00000257264	T	0.34667	1.35	4.54	3.61	0.41365	.	0.602001	0.15518	N	0.258174	T	0.32164	0.0820	M	0.63428	1.95	0.22710	N	0.998822	P	0.41159	0.74	B	0.37346	0.247	T	0.11012	-1.0605	10	0.17832	T	0.49	-2.6499	10.4549	0.44544	0.0:0.0:0.8044:0.1956	.	38	P20061	TCO1_HUMAN	H	38	ENSP00000257264:P38H	ENSP00000257264:P38H	P	-	2	0	TCN1	59388102	0.862000	0.29867	0.189000	0.23252	0.005000	0.04900	0.571000	0.23669	1.193000	0.43086	0.655000	0.94253	CCT		0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		56	671	1	0	2.40265e-35	1	2.8676e-35	56	671					T	59631526	G	T	59631526	3	4	79	1	0	0	0	0	1	0	0	0	15758	1000	35	3	1220	3	TCN1	11	59631526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11046	59631526	75374990	12116	22433											
MS4A2	2206	broad.mit.edu	37	chr11	59857209	59857209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatatctccccaggaagtatCttcaggcagactattgaagt	8	9	3	2	rs199688918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857209C>T	ENST00000278888.3	+	2	203	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	34					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGGAAGTATCTTCAGGCAGA	0.463																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(100-102)tCt>tTt		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)	C	PHE/SER	0,4402		0,0,2201	137	131	133		101	-0.3	0	11		133	3,8587	3.0+/-9.4	0,3,4292	yes	missense	MS4A2	NM_000139.4	155	0,3,6493	TT,TC,CC		0.0349,0.0,0.0231	benign	34/245	59857209	3,12989	2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857209C>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.101C>T	11.37:g.59857209C>T	ENSP00000278888:p.Ser34Phe						p.S34F	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			2	203	+		all_epithelial(135;0.245)	34					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.101C>T	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	5.228	0.227511	0.09916	0.0	3.49E-4	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.85484	-1.99;2.02	4.15	-0.262	0.12958	.	12.226100	0.00166	N	0.000004	T	0.71626	0.3362	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.25884	0.064	T	0.61946	-0.6958	10	0.52906	T	0.07	3.7895	2.9406	0.05829	0.3662:0.402:0.0:0.2318	.	34	Q01362	FCERB_HUMAN	F	34	ENSP00000433311:S34F;ENSP00000278888:S34F	ENSP00000278888:S34F	S	+	2	0	MS4A2	59613785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.753000	0.04792	-0.032000	0.13758	0.650000	0.86243	TCT		0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			92	354	0	0	0	1	0	92	354					T	59857209	C	T	59857209	3	4	79	1	0	0	0	0	1	0	0	0	9901	913	32	2	107	2	MS4A2	11	59857209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225683	59857209	75149307	12117	22434											
MS4A2	2206	broad.mit.edu	37	chr11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttttgaaaaaagagcagGagttcctgggggtgagtgag	16	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	59					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(175-177)Gag>Aag		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						69	68	68					11																	59857283		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857283G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.175G>A	11.37:g.59857283G>A	ENSP00000278888:p.Glu59Lys						p.E59K	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			2	277	+		all_epithelial(135;0.245)	59					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.175G>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761028	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.14266	2.52	4.41	2.47	0.30058	.	0.417922	0.25402	N	0.030940	T	0.13841	0.0335	L	0.32530	0.975	0.34137	D	0.665927	P	0.48834	0.916	P	0.48166	0.569	T	0.22243	-1.0222	9	.	.	.	-17.7271	10.8682	0.46869	0.0:0.3632:0.6368:0.0	.	59	Q01362	FCERB_HUMAN	K	59	ENSP00000278888:E59K	.	E	+	1	0	MS4A2	59613859	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.379000	0.44318	0.748000	0.32831	0.650000	0.86243	GAG		0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			67	212	0	0	0	1	0	67	212					A	59857283	G	A	59857283	3	1	79	1	0	0	0	0	1	0	0	0	9901	1175	41	2	181	2	MS4A2	11	59857283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	59857283	75149233	12118	22435											
MS4A2	2206	broad.mit.edu	37	chr11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgctctgtacttgatAtttcacacattgagggagac	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	85					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(253-255)Att>Gtt		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						217	208	211					11																	59857875		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857875A>G	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.253A>G	11.37:g.59857875A>G	ENSP00000278888:p.Ile85Val						p.I85V	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			3	355	+		all_epithelial(135;0.245)	85					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.253A>G	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	0.282	-0.985742	0.02180	.	.	ENSG00000149534	ENST00000278888	T	0.02177	4.41	4.68	-7.35	0.01422	.	2.621580	0.01288	N	0.009922	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.46205	-0.9208	10	0.16420	T	0.52	2.0808	2.9836	0.05961	0.2451:0.2431:0.3929:0.1188	.	15;85	Q14298;Q01362	.;FCERB_HUMAN	V	85	ENSP00000278888:I85V	ENSP00000278888:I85V	I	+	1	0	MS4A2	59614451	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-1.536000	0.01738	-0.297000	0.09499	ATT		0.323	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			126	566	0	0	0	1	0	126	566					G	59857875	A	G	59857875	3	3	79	1	0	0	0	0	1	0	0	0	9901	449	16	4	263	4	MS4A2	11	59857875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	59857875	75148641	12119	22436											
MS4A6A	64231	broad.mit.edu	37	chr11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctcattgggaacagGttgtgatgtcatgatggtgt	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000530839.1	-	3	505	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(13-15)Cct>Tct		membrane-spanning 4-domains, subfamily A, member 6A							214	191	199					11																	59949188		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59949188G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.13C>T	11.37:g.59949188G>A	ENSP00000436979:p.Pro5Ser					MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5S	p.P5S			Q9H2W1	M4A6A_HUMAN			2	153	-			5					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.13C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295355	0.40594	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	3.75;3.76;3.08;3.75;3.68;2.85;3.69;1.79;2.19;2.1;1.63;-1.39	4.83	0.376	0.16193	.	1.549850	0.03654	N	0.241465	D	0.86456	0.5937	M	0.61703	1.905	0.09310	N	1	B;D;B;D;B	0.71674	0.01;0.998;0.037;0.997;0.018	B;D;B;P;B	0.66979	0.015;0.948;0.025;0.888;0.028	T	0.67337	-0.5696	9	.	.	.	.	5.6964	0.17857	0.19:0.4038:0.4062:0.0	.	5;33;33;5;5	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	5;5;5;5;33;5;33;5;5;33;33;5	ENSP00000315878:P5S;ENSP00000431901:P5S;ENSP00000392921:P5S;ENSP00000436979:P5S;ENSP00000435844:P33S;ENSP00000392770:P5S;ENSP00000403212:P33S;ENSP00000436172:P5S;ENSP00000431266:P5S;ENSP00000433436:P33S;ENSP00000433012:P33S;ENSP00000437152:P5S	.	P	-	1	0	MS4A6A	59705764	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.094000	0.12374	-0.136000	0.14681	CCT		0.443	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			133	672	0	0	0	1	0	133	672					A	59949188	G	A	59949188	3	1	79	1	0	0	0	0	1	0	0	0	9905	1261	44	2	784	2	MS4A6A	11	59949188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91313	59949188	75057328	12120	22437											
MS4A6E	245802	broad.mit.edu	37	chr11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgcagtgtaagttggacGaaaaggatataccaaccaga	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral component of membrane (GO:0016021)		p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453																																						ENST00000300182.4																			1	Substitution - Missense(1)	p.E89K(1)	lung(1)	endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						c.(265-267)Gaa>Aaa		membrane-spanning 4-domains, subfamily A, member 6E							154	146	149					11																	60105331		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105331G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.265G>A	11.37:g.60105331G>A	ENSP00000300182:p.Glu89Lys						p.E89K	NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN			2	330	+			89					Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.265G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	MS4A6E	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA		0.453	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			113	515	0	0	0	1	0	113	515					A	60105331	G	A	60105331	3	1	79	1	0	0	0	0	1	0	0	0	9906	1059	37	1	271	1	MS4A6E	11	60105331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156143	60105331	74901185	12121	22438											
MS4A7	58475	broad.mit.edu	37	chr11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattacaatcccaaaccatgGgggtttctcacagctttaca	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000300184.3	+	2	221	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	9						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(25-27)Ggg>Agg		membrane-spanning 4-domains, subfamily A, member 7							117	106	110					11																	60150639		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150639G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.25G>A	11.37:g.60150639G>A	ENSP00000300184:p.Gly9Arg					MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	p.G9R	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			2	218	+			9					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.25G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.112	0.576130	0.13623	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.53857	3.01;2.23;2.23;2.17;2.49;0.6	3.8	-2.88	0.05682	.	3.885760	0.00659	N	0.000595	T	0.28001	0.0690	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.04165	-1.0972	10	0.23891	T	0.37	-24.2312	1.0142	0.01504	0.4079:0.1555:0.2782:0.1584	.	9;9;9	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	R	9	ENSP00000300184:G9R;ENSP00000350983:G9R;ENSP00000434637:G9R;ENSP00000433861:G9R;ENSP00000434819:G9R;ENSP00000433184:G9R	ENSP00000300184:G9R	G	+	1	0	MS4A7	59907215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.629000	0.05575	-0.137000	0.14449	GGG		0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			80	323	0	0	0	1	0	80	323					A	60150639	G	A	60150639	3	1	79	1	0	0	0	0	1	0	0	0	9907	1232	43	2	27	2	MS4A7	11	60150639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45308	60150639	74855877	12122	22439											
MS4A14	84689	broad.mit.edu	37	chr11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaaaactgttatgccaaGattcagaatcccaaatacag	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATGCCAAGATTCAGAATC	0.473																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1927-1929)Gat>Aat		membrane-spanning 4-domains, subfamily A, member 14							86	87	86					11																	60184368		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60184368G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1927G>A	11.37:g.60184368G>A	ENSP00000300187:p.Asp643Asn					MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N	p.D643N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	2204	+			643			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1927G>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518792	0.27211	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.82;1.57;3.18	3.84	0.661	0.17874	.	11.904300	0.00166	N	0.000000	T	0.22282	0.0537	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.40107	0.703;0.578	B;B	0.36959	0.237;0.12	T	0.13872	-1.0493	10	0.46703	T	0.11	-3.5619	4.6492	0.12587	0.2117:0.0:0.6156:0.1727	.	626;643	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	531;643;626;676	ENSP00000437222:D531N;ENSP00000300187:D643N;ENSP00000378453:D626N;ENSP00000433761:D676N	ENSP00000300187:D643N	D	+	1	0	MS4A14	59940944	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	0.371000	0.20450	0.025000	0.15241	0.650000	0.86243	GAT		0.473	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			70	293	0	0	0	1	0	70	293					A	60184368	G	A	60184368	3	1	79	1	0	0	0	0	1	0	0	0	9899	942	33	2	1945	2	MS4A14	11	60184368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33729	60184368	74822148	12123	22440											
MS4A1	931	broad.mit.edu	37	chr11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaggccctattgctatgCaatctggtccaaaaccactc	7	12	1	1	rs201354938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	24					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(70-72)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						72	74	73					11																	60229917		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60229917C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.70C>T	11.37:g.60229917C>T	ENSP00000433277:p.Gln24*					MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR	p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			2	359	+			24					A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.70C>T	CCDS31570.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.07	3.541864	0.65198	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000533306;ENST00000389939	.	.	.	5.21	1.14	0.20703	.	0.693696	0.12943	N	0.426474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.1374	3.7868	0.08703	0.1675:0.5457:0.0:0.2868	.	.	.	.	X	24;24;24;24;27;24	.	ENSP00000314620:Q24X	Q	+	1	0	MS4A1	59986493	0.054000	0.20591	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	-0.044000	0.13491	0.655000	0.94253	CAA		0.448	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			15	323	0	0	0	1	0	15	323					T	60229917	C	T	60229917	4	4	79	1	0	0	0	0	0	1	0	0	9895	711	25	2	72	2	MS4A1	11	60229917	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45549	60229917	74776599	12124	22441											
MS4A1	931	broad.mit.edu	37	chr11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgtaatagctggcatcGttgagaatgaatggaaaaga	11	4	0	3	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	212					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18144	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(634-636)Gtt>Att		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	G	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	146	130	135		634,634	3	0.2	11	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	MS4A1	NM_021950.3,NM_152866.2	29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	212/298,212/298	60234492	5,13001	2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60234492G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.634G>A	11.37:g.60234492G>A	ENSP00000433277:p.Val212Ile					MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			6	923	+			212					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.634G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706724	0.30232	0.001135	0.0	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.27256	4.33;1.68;4.33;4.33	5.3	3.04	0.35103	.	0.557191	0.17623	N	0.167661	T	0.24699	0.0599	M	0.68317	2.08	0.09310	N	1	B;D;D	0.57571	0.055;0.98;0.98	B;B;B	0.43754	0.011;0.43;0.43	T	0.11792	-1.0573	10	0.27082	T	0.32	-17.187	5.8159	0.18492	0.2652:0.0:0.7348:0.0	.	45;199;212	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	212;199;212;45;212	ENSP00000314620:V212I;ENSP00000433519:V199I;ENSP00000433277:V212I;ENSP00000374589:V212I	ENSP00000314620:V212I	V	+	1	0	MS4A1	59991068	0.696000	0.27757	0.172000	0.22920	0.071000	0.16799	2.818000	0.48041	1.387000	0.46486	-0.136000	0.14681	GTT		0.418	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			95	395	0	0	0	1	0	95	395					A	60234492	G	A	60234492	3	1	79	1	0	0	0	0	1	0	0	0	9895	1145	40	1	652	1	MS4A1	11	60234492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4575	60234492	74772024	12125	22442											
MS4A12	54860	broad.mit.edu	37	chr11	60271185	60271185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccattaggtgaaaggcagCctgggaatgaacattgttag	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	161						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(481-483)agC>agT		membrane-spanning 4-domains, subfamily A, member 12							160	141	147					11																	60271185		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60271185C>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.483C>T	11.37:g.60271185C>T						MS4A12_ENST00000537076.1_Silent_p.S115S	p.S161S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			5	540	+			161					F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.483C>T	CCDS7988.1																																																																																				0.408	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			65	291	0	0	0	1	0	65	291					T	60271185	C	T	60271185	2	4	79	1	0	0	0	0	0	0	0	1	9897	738	26	2		2	MS4A12	11	60271185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36693	60271185	74735331	12126	22443											
MS4A15	219995	broad.mit.edu	37	chr11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G													gcagtttgaggagccaccgcINStgggggcacagacaccaagg					rs1032939	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(139-141)gggfs		membrane-spanning 4-domains, subfamily A, member 15																																				SO:0001589	frameshift_variant	219995					integral to membrane	receptor activity	g.chr11:60531345_60531346insG	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		Exception_encountered	11.37:g.60531345_60531346insG	ENSP00000386022:p.Leu47fs					MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.G47fs	p.G47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	218_219	+			47		L -> R (in dbSNP:rs1032939).			A9UJY6|A9UJY7|F2Z2J5	Frame_Shift_Ins	INS	ENST00000405633.3	37	c.139_140insG	CCDS44617.1																																																																																				0.604	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			72	373						72	373	---	---	---	---	G	60531346	-	G	60531345	7	5	79	1	0	1	1	0	0	0	0	0	9900	796	28	0	141	0	MS4A15	11	60531345	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	260160	60531345	74475171	12127	22444											
CCDC86	79080	broad.mit.edu	37	chr11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagccggcagccaagAtctgagctcaggacggcccg	13	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	360					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GGCAGCCAAGATCTGAGCTCA	0.637																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(1078-1080)Atc>Gtc		coiled-coil domain containing 86							29	36	33					11																	60617793		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60617793A>G	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.1078A>G	11.37:g.60617793A>G	ENSP00000227520:p.Ile360Val					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V	p.I360V	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			4	1132	+			360					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.1078A>G	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	A	6.718	0.501202	0.12822	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T	0.40225	1.04	4.66	-0.718	0.11205	.	0.837667	0.09890	N	0.742530	T	0.20455	0.0492	N	0.16307	0.4	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.02654	T	1	.	8.2856	0.31926	0.4016:0.0:0.5984:0.0	.	360	Q9H6F5	CCD86_HUMAN	V	360;104	ENSP00000227520:I360V	ENSP00000227520:I360V	I	+	1	0	CCDC86	60374369	0.090000	0.21635	0.653000	0.29593	0.649000	0.38597	0.229000	0.17833	-0.207000	0.10187	0.459000	0.35465	ATC		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		11	363	0	0	0	1	0	11	363					G	60617793	A	G	60617793	3	3	79	1	0	0	0	0	1	0	0	0	2868	333	12	4	1092	4	CCDC86	11	60617793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86448	60617793	74388723	12128	22445											
TMEM109	79073	broad.mit.edu	37	chr11	60689496	60689496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctgatcctctacgcCctgctgagccggctcactgg	11	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	TMEM132A_ENST00000453848.2_5'Flank|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A197A|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(589-591)gcC>gcT		transmembrane protein 109							41	44	43					11																	60689496		2203	4298	6501	SO:0001819	synonymous_variant	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689496C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.591C>T	11.37:g.60689496C>T						TMEM109_ENST00000536171.1_Silent_p.A197A|RP11-881M11.4_ENST00000543907.1_RNA	p.A197A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			4	994	+			197						Silent	SNP	ENST00000227525.3	37	c.591C>T	CCDS7996.1																																																																																				0.677	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		65	336	0	0	0	1	0	65	336					T	60689496	C	T	60689496	2	4	79	1	0	0	0	0	0	0	0	1	16077	610	22	2		2	TMEM109	11	60689496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71703	60689496	74317020	12129	22446											
TMEM132A	54972	broad.mit.edu	37	chr11	60696112	60696112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagccatccctgggCgcctgcgtggtggagctgga	14	13	2	0	rs367807455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000453848.2	+	4	704	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000005286.4_Silent_p.G182G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	182						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(544-546)ggC>ggT		transmembrane protein 132A		C	,	1,4317		0,1,2158	45	49	48		546,546	-5.8	0.9	11		48	0,8452		0,0,4226	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	0,1,6384	TT,TC,CC		0.0,0.0232,0.0078	,	182/1025,182/1024	60696112	1,12769	2159	4226	6385	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696112C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.546C>T	11.37:g.60696112C>T						TMEM132A_ENST00000453848.2_Silent_p.G182G	p.G182G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	699	+			182					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.546C>T	CCDS44618.1																																																																																				0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		39	478	0	0	0	1	0	39	478					T	60696112	C	T	60696112	2	4	79	1	0	0	0	0	0	0	0	1	16097	755	27	1		1	TMEM132A	11	60696112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6616	60696112	74310404	12130	22447											
TMEM132A	54972	broad.mit.edu	37	chr11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgcctgcgtggtggaGctggagcttccctcgcactg	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000453848.2	+	4	719	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E187D			Q24JP5	T132A_HUMAN	transmembrane protein 132A	187						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(559-561)gaG>gaT		transmembrane protein 132A							44	47	46					11																	60696127		2198	4281	6479	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696127G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.561G>T	11.37:g.60696127G>T	ENSP00000405823:p.Glu187Asp					TMEM132A_ENST00000453848.2_Missense_Mutation_p.E187D	p.E187D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	714	+			187					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.561G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628841	0.67015	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.08282	3.11;3.11	4.32	3.39	0.38822	.	0.069858	0.52532	D	0.000062	T	0.19446	0.0467	L	0.60455	1.87	0.35948	D	0.833686	D;P;D	0.69078	0.997;0.884;0.994	D;B;P	0.66196	0.942;0.38;0.892	T	0.08513	-1.0718	10	0.87932	D	0	.	7.482	0.27411	0.2093:0.0:0.7907:0.0	.	176;187;187	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	D	187	ENSP00000405823:E187D;ENSP00000005286:E187D	ENSP00000005286:E187D	E	+	3	2	TMEM132A	60452703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	0.923000	0.37045	0.462000	0.41574	GAG		0.652	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		78	423	1	0	4.45923e-32	1	5.26057e-32	78	423					T	60696127	G	T	60696127	3	4	79	1	0	0	0	0	1	0	0	0	16097	962	34	3	575	3	TMEM132A	11	60696127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	60696127	74310389	12131	22448											
TMEM132A	54972	broad.mit.edu	37	chr11	60697983	60697983	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatactctcttccccaggAtcaaggtgaagaaggggctg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000453848.2	+	5	1026	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000005286.4_Splice_Site_p.I290V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	290						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.e5-1		transmembrane protein 132A							135	143	140					11																	60697983		2203	4299	6502	SO:0001630	splice_region_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60697983A>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.867-1A>G	11.37:g.60697983A>G						TMEM132A_ENST00000453848.2_Splice_Site_p.I290_splice	p.I290_splice	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			5	1021	+			290					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	37	c.866_splice	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171542	0.09391	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.11821	2.74;2.99;2.99	5.4	5.4	0.78164	.	0.094640	0.46145	D	0.000307	T	0.11324	0.0276	N	0.24115	0.695	0.36711	D	0.88064	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.07520	-1.0768	10	0.87932	D	0	.	13.9837	0.64321	1.0:0.0:0.0:0.0	.	279;290;290	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	28;290;290	ENSP00000442754:I28V;ENSP00000405823:I290V;ENSP00000005286:I290V	ENSP00000005286:I290V	I	+	1	0	TMEM132A	60454559	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.396000	0.44468	2.184000	0.69523	0.533000	0.62120	ATC		0.592	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	Missense_Mutation	113	1331	0	0	0	1	0	113	1331					G	60697983	A	G	60697983	5	3	79	1	0	0	0	0	0	0	1	0	16097	347	12	4	886	4	TMEM132A	11	60697983	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	60697983	74308533	12132	22449											
SLC15A3	51296	broad.mit.edu	37	chr11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtgcagccagccccCgggcaaggacagcagtgcca	16	14	0	0	rs533865798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	521					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(1561-1563)Ggg>Agg		solute carrier family 15 (oligopeptide transporter), member 3							48	47	47					11																	60705372		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60705372C>T	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1561G>A	11.37:g.60705372C>T	ENSP00000227880:p.Gly521Arg						p.G521R	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			7	1794	-			521					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1561G>A	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063654	0.07273	.	.	ENSG00000110446	ENST00000536784;ENST00000227880	T	0.59364	0.27	5.08	-0.155	0.13395	Major facilitator superfamily domain, general substrate transporter (1);	0.602516	0.16041	N	0.232412	T	0.44498	0.1296	M	0.65320	2	0.09310	N	1	B	0.23490	0.086	B	0.15484	0.013	T	0.31280	-0.9949	10	0.36615	T	0.2	-9.8456	2.0854	0.03645	0.1237:0.4217:0.2409:0.2136	.	521	Q8IY34	S15A3_HUMAN	R	29;521	ENSP00000227880:G521R	ENSP00000227880:G521R	G	-	1	0	SLC15A3	60461948	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-0.135000	0.10420	-0.108000	0.12066	-0.137000	0.14449	GGG		0.637	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		36	160	0	0	0	1	0	36	160					T	60705372	C	T	60705372	3	4	79	1	0	0	0	0	1	0	0	0	14450	652	23	1	192	1	SLC15A3	11	60705372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7389	60705372	74301144	12133	22450											
CD5	921	broad.mit.edu	37	chr11	60886791	60886791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagcggcagcctggggggTaccatcagctatgaggccca	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCTGGGGGGTACCATCAGCT	0.612																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)ggT>ggC		CD5 molecule							56	60	59					11																	60886791		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886791T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.549T>C	11.37:g.60886791T>C							p.G183G	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	715	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.549T>C	CCDS8000.1																																																																																				0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		81	375	0	0	0	1	0	81	375					C	60886791	T	C	60886791	2	2	79	1	0	0	0	0	0	0	0	1	3030	1625	57	4		4	CD5	11	60886791	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181419	60886791	74119725	12134	22451											
CD5	921	broad.mit.edu	37	chr11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagaaccccacagccTcccacgtggataacgaatac	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	447					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCACAGCCTCCCACGTGGA	0.592																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1339-1341)Tcc>Ccc		CD5 molecule							202	145	164					11																	60892563		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892563T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1339T>C	11.37:g.60892563T>C	ENSP00000342681:p.Ser447Pro						p.S447P	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1505	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	447					A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1339T>C	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744193	0.49151	.	.	ENSG00000110448	ENST00000347785	T	0.31769	1.48	4.99	2.52	0.30459	.	0.254323	0.27901	N	0.017394	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.50440	0.641	T	0.09707	-1.0662	10	0.72032	D	0.01	-21.5538	9.1883	0.37184	0.0:0.0:0.358:0.642	.	447	P06127	CD5_HUMAN	P	447	ENSP00000342681:S447P	ENSP00000342681:S447P	S	+	1	0	CD5	60649139	0.000000	0.05858	0.014000	0.15608	0.694000	0.40290	0.316000	0.19469	0.280000	0.22209	0.379000	0.24179	TCC		0.592	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		49	227	0	0	0	1	0	49	227					C	60892563	T	C	60892563	3	2	79	1	0	0	0	0	1	0	0	0	3030	1551	54	4	1373	4	CD5	11	60892563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5772	60892563	74113953	12135	22452											
VPS37C	55048	broad.mit.edu	37	chr11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtgttccctgggggaCtgggcgcaccgggggtggtg	23	8	0	0	rs556654929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	182	Pro-rich.		V -> D (in dbSNP:rs2232142). {ECO:0000269|PubMed:17974005}.		endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCCTGGGGGACTGGGCGCACC	0.672																																						ENST00000301765.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(544-546)Gtc>Atc		vacuolar protein sorting 37 homolog C (S. cerevisiae)							17	20	19					11																	60899816		2197	4292	6489	SO:0001583	missense	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60899816C>T	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.544G>A	11.37:g.60899816C>T	ENSP00000301765:p.Val182Ile						p.V182I	NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN			5	776	-			182		V -> D (in dbSNP:rs2232142).	Pro-rich.		Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	c.544G>A	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165403	0.06461	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.42131	0.98	4.71	1.78	0.24846	.	1.707430	0.03070	N	0.156996	T	0.29588	0.0738	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15752	-1.0426	10	0.20519	T	0.43	2.7763	8.3183	0.32113	0.0:0.754:0.0:0.246	.	182	A5D8V6	VP37C_HUMAN	I	182	ENSP00000301765:V182I	ENSP00000301765:V182I	V	-	1	0	VPS37C	60656392	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.810000	0.04505	0.979000	0.38497	0.462000	0.41574	GTC		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		12	70	0	0	0	1	0	12	70					T	60899816	C	T	60899816	3	4	79	1	0	0	0	0	1	0	0	0	17261	565	20	2	527	2	VPS37C	11	60899816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7253	60899816	74106700	12136	22453											
VWCE	220001	broad.mit.edu	37	chr11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccgggcttgtaggtaaagtCtgtgttttcatcaagttcgt	12	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	811						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2431-2433)caG>caT		von Willebrand factor C and EGF domains							55	57	56					11																	61026582		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026582C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2433G>T	11.37:g.61026582C>A	ENSP00000334186:p.Gln811His					VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	p.Q811H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	2819	-			811					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2433G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588329	0.46110	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70631	-0.5;3.36	4.73	1.69	0.24217	.	0.405020	0.18355	N	0.143759	T	0.61602	0.2360	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56147	-0.8027	10	0.87932	D	0	.	6.9739	0.24664	0.0:0.57:0.3356:0.0944	.	811	Q96DN2	VWCE_HUMAN	H	811;276	ENSP00000334186:Q811H;ENSP00000442570:Q276H	ENSP00000334186:Q811H	Q	-	3	2	VWCE	60783158	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.696000	0.05104	0.132000	0.18615	-0.140000	0.14226	CAG		0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		19	187	1	0	3.99206e-14	1	4.32713e-14	19	187					A	61026582	C	A	61026582	3	1	79	1	0	0	0	0	1	0	0	0	17299	912	32	3	438	3	VWCE	11	61026582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126766	61026582	73979934	12137	22454											
VWCE	220001	broad.mit.edu	37	chr11	61042028	61042028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacacagccccgtctgcGtaccaccggccgtggaaata	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1522-1524)taC>taT		von Willebrand factor C and EGF domains							197	125	149					11																	61042028		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61042028G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	11.37:g.61042028G>A							p.Y508Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			12	1910	-			508			VWFC 3.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1524C>T	CCDS8002.1																																																																																				0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		68	301	0	0	0	1	0	68	301					A	61042028	G	A	61042028	2	1	79	1	0	0	0	0	0	0	0	1	17299	1140	40	1		1	VWCE	11	61042028	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15446	61042028	73964488	12138	22455											
VWCE	220001	broad.mit.edu	37	chr11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttttcacaggtcacCttcccgtcctagaagcacaa	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	413	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1237-1239)aaG>aaT		von Willebrand factor C and EGF domains							115	93	100					11																	61048181		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61048181C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1239G>T	11.37:g.61048181C>A	ENSP00000334186:p.Lys413Asn						p.K413N	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			9	1625	-			413			VWFC 1.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1239G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776415	0.16051	.	.	ENSG00000167992	ENST00000335613	T	0.73789	-0.78	5.65	0.467	0.16721	von Willebrand factor, type C (4);	0.478171	0.19258	N	0.118755	T	0.41534	0.1163	N	0.03268	-0.37	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.04078	-1.0979	10	0.19590	T	0.45	.	1.8569	0.03181	0.1254:0.3965:0.122:0.3561	.	413	Q96DN2	VWCE_HUMAN	N	413	ENSP00000334186:K413N	ENSP00000334186:K413N	K	-	3	2	VWCE	60804757	0.378000	0.25114	0.454000	0.27019	0.687000	0.40016	-0.021000	0.12504	-0.151000	0.11176	-0.136000	0.14681	AAG		0.602	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		37	192	1	0	3.33393e-15	1	3.63836e-15	37	192					A	61048181	C	A	61048181	3	1	79	1	0	0	0	0	1	0	0	0	17299	680	24	3	1676	3	VWCE	11	61048181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6153	61048181	73958335	12139	22456											
DDB1	1642	broad.mit.edu	37	chr11	61068386	61068386	+	Silent	SNP	G	G	A													gctggttctgtcttccgctcGgtgtgaaaggatctccaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000451943.2_Silent_p.T65T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1078	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTCCGCTCGGTGTGAAAGG	0.512								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3232-3234)acC>acT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							158	138	144					11																	61068386		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61068386G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3234C>T	11.37:g.61068386G>A						DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000451943.2_Silent_p.T65T|DDB1_ENST00000450997.2_Silent_p.T389T	p.T1078T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3631	-			1078			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3234C>T	CCDS31576.1																																																																																				0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		14	323	0	0	0	1	0	14	323					A	61068386	G	A	61068386	2	1	79	1	0	0	0	0	0	0	0	1	4334	1103	39	1		1	DDB1	11	61068386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20205	61068386	73938130	12140	22457	140	2									
DDB1	1642	broad.mit.edu	37	chr11	61068395	61068395	+	Silent	SNP	G	G	T													gtcttccgctcggtgtgaaaGgatctccaggtggatgggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000451943.2_Silent_p.S62S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1075	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGTGTGAAAGGATCTCCAGG	0.502								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3223-3225)tcC>tcA	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							160	139	146					11																	61068395		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61068395G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3225C>A	11.37:g.61068395G>T						DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000451943.2_Silent_p.S62S|DDB1_ENST00000450997.2_Silent_p.S386S	p.S1075S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3622	-			1075			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3225C>A	CCDS31576.1																																																																																				0.502	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	315	1	0	6.42651e-13	1	6.92124e-13	10	315					T	61068395	G	T	61068395	2	4	79	1	0	0	0	0	0	0	0	1	4334	987	35	3		3	DDB1	11	61068395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	61068395	73938121	12141	22458	140	2									
DDB1	1642	broad.mit.edu	37	chr11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctggatctcatcgatgGtgccaatggtgagggtgcta	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	703	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCATCGATGGTGCCAATGGT	0.552								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2107-2109)aCc>aTc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							173	160	165					11																	61079518		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079518G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2108C>T	11.37:g.61079518G>A	ENSP00000301764:p.Thr703Ile					DDB1_ENST00000450997.2_Intron	p.T703I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			17	2505	-			703			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2108C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074833	0.94000	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.32023	1.47;1.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.60984	-0.7154	10	0.54805	T	0.06	-30.8279	19.9702	0.97282	0.0:0.0:1.0:0.0	.	703	Q16531	DDB1_HUMAN	I	703;170	ENSP00000301764:T703I;ENSP00000444650:T170I	ENSP00000301764:T703I	T	-	2	0	DDB1	60836094	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.869000	0.99810	2.724000	0.93272	0.491000	0.48974	ACC		0.552	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		62	698	0	0	0	1	0	62	698					A	61079518	G	A	61079518	3	1	79	1	0	0	0	0	1	0	0	0	4334	1261	44	2	1358	2	DDB1	11	61079518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11123	61079518	73926998	12142	22459											
DDB1	1642	broad.mit.edu	37	chr11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcacctgtcaggatagCcatctgaattgaggggacac	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	686	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAGGATAGCCATCTGAATT	0.438								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2056-2058)gGc>gAc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							137	131	133					11																	61080983		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61080983C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2057G>A	11.37:g.61080983C>T	ENSP00000301764:p.Gly686Asp					DDB1_ENST00000450997.2_Intron	p.G686D	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			16	2454	-			686			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2057G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181655	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.63	5.63	0.86233	.	0.049844	0.85682	D	0.000000	T	0.30230	0.0758	L	0.50333	1.59	0.80722	D	1	P	0.41748	0.761	B	0.36885	0.235	T	0.03993	-1.0986	10	0.21014	T	0.42	-24.9162	19.7096	0.96089	0.0:1.0:0.0:0.0	.	686	Q16531	DDB1_HUMAN	D	686;153	ENSP00000301764:G686D;ENSP00000444650:G153D	ENSP00000301764:G686D	G	-	2	0	DDB1	60837559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.652000	0.90054	0.655000	0.94253	GGC		0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		56	263	0	0	0	1	0	56	263					T	61080983	C	T	61080983	3	4	79	1	0	0	0	0	1	0	0	0	4334	739	26	2	1413	2	DDB1	11	61080983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1465	61080983	73925533	12143	22460											
CPSF7	79869	broad.mit.edu	37	chr11	61187476	61187476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggtggccggcctcacGtccactttttctccattaag	10	14	2	0	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000394888.4	-	5	640	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CPSF7_ENST00000340437.4_Silent_p.D199D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	156	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		16378	0.0		0.002	False		,,,				2504	0.002					ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(595-597)gaC>gaT		cleavage and polyadenylation specific factor 7, 59kDa		G	,,	0,4404		0,0,2202	105	109	107		468,468,597	-7	0.8	11	dbSNP_134	107	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,	156/472,156/463,199/515	61187476	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61187476G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.468C>T	11.37:g.61187476G>A						CPSF7_ENST00000394888.4_Silent_p.D156D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	p.D199D	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			5	677	-			156					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.597C>T	CCDS44619.1																																																																																				0.532	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		112	476	0	0	0	1	0	112	476					A	61187476	G	A	61187476	2	1	79	1	0	0	0	0	0	0	0	1	3839	1136	40	1		1	CPSF7	11	61187476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106493	61187476	73819040	12144	22461											
SYT7	9066	broad.mit.edu	37	chr11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcttcttcttctccaccCgcttgtccttgtacatcagc	5	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000263846.4	-	8	1274	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	316	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(946-948)cGg>cAg		synaptotagmin VII							209	164	179					11																	61290707		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61290707C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.947G>A	11.37:g.61290707C>T	ENSP00000263846:p.Arg316Gln					SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q	p.R316Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			8	1274	-			316			C2 2.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.947G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697219	0.88830	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.53	4.53	0.55603	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.925;0.939	D	0.85729	0.1330	10	0.87932	D	0	.	17.8501	0.88744	0.0:1.0:0.0:0.0	.	391;316	F5GZU9;O43581	.;SYT7_HUMAN	Q	316;391;599;360;524;435	ENSP00000263846:R316Q;ENSP00000444201:R391Q;ENSP00000439694:R599Q;ENSP00000444568:R360Q;ENSP00000444019:R524Q;ENSP00000437720:R435Q	ENSP00000263846:R316Q	R	-	2	0	SYT7	61047283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.524000	0.85096	0.561000	0.74099	CGG		0.562	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		85	396	0	0	0	1	0	85	396					T	61290707	C	T	61290707	3	4	79	1	0	0	0	0	1	0	0	0	15531	652	23	1	272	1	SYT7	11	61290707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103231	61290707	73715809	12145	22462											
SYT7	9066	broad.mit.edu	37	chr11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcatgatcttcacggTgagcgtggactcctggaagt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000263846.4	-	5	784	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	153	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(457-459)Acc>Gcc		synaptotagmin VII							76	80	78					11																	61295552		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295552T>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.457A>G	11.37:g.61295552T>C	ENSP00000263846:p.Thr153Ala					SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A	p.T153A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			5	784	-			153			C2 1.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.457A>G	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101750	0.76983	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.045776	0.85682	D	0.000000	T	0.68439	0.3001	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.26318	0.12;0.146	B;B	0.42771	0.342;0.397	T	0.63260	-0.6677	10	0.19147	T	0.46	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	228;153	F5GZU9;O43581	.;SYT7_HUMAN	A	153;228;436;197;361;272;153	ENSP00000263846:T153A;ENSP00000444201:T228A;ENSP00000439694:T436A;ENSP00000444568:T197A;ENSP00000444019:T361A;ENSP00000437720:T272A;ENSP00000443576:T153A	ENSP00000263846:T153A	T	-	1	0	SYT7	61052128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.960000	0.56953	0.459000	0.35465	ACC		0.617	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		40	513	0	0	0	1	0	40	513					C	61295552	T	C	61295552	3	2	79	1	0	0	0	0	1	0	0	0	15531	1696	59	4	774	4	SYT7	11	61295552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4845	61295552	73710964	12146	22463											
SYT7	9066	broad.mit.edu	37	chr11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggccgcagaggacgacaGtgacgctaaggctgacggtg	17	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000263846.4	-	2	419	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	31					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(91-93)aCt>aAt		synaptotagmin VII							71	57	61					11																	61323619		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323619G>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.92C>A	11.37:g.61323619G>T	ENSP00000263846:p.Thr31Asn					SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N	p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			2	419	-			31					F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.92C>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494952	0.85069	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.59083	0.41;0.29;0.52;0.38;0.36;0.37;1.84	4.98	4.98	0.66077	.	0.441308	0.22038	N	0.065486	T	0.46502	0.1396	N	0.14661	0.345	0.29298	N	0.868872	D;P	0.54207	0.965;0.666	P;B	0.44811	0.461;0.13	T	0.46978	-0.9152	10	0.37606	T	0.19	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	31;31	F5GZU9;O43581	.;SYT7_HUMAN	N	31	ENSP00000263846:T31N;ENSP00000444201:T31N;ENSP00000439694:T31N;ENSP00000444568:T31N;ENSP00000444019:T31N;ENSP00000437720:T31N;ENSP00000443576:T31N	ENSP00000263846:T31N	T	-	2	0	SYT7	61080195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.544000	0.67231	2.460000	0.83146	0.591000	0.81541	ACT		0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		25	143	1	0	6.07407e-21	1	6.82693e-21	25	143					T	61323619	G	T	61323619	3	4	79	1	0	0	0	0	1	0	0	0	15531	1029	36	3	1151	3	SYT7	11	61323619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28067	61323619	73682897	12147	22464											
DAGLA	747	broad.mit.edu	37	chr11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctggctcactcagtacTacacctcctgcaacgacctc	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	123					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(367-369)Tac>Cac		diacylglycerol lipase, alpha							261	172	202					11																	61490390		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490390T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.367T>C	11.37:g.61490390T>C	ENSP00000257215:p.Tyr123His						p.Y123H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	4	483	+			123					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.367T>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252832	0.80135	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.27365	-1.0076	10	0.46703	T	0.11	-31.8586	15.0401	0.71785	0.0:0.0:0.0:1.0	.	123	Q9Y4D2	DGLA_HUMAN	H	123	ENSP00000257215:Y123H	ENSP00000257215:Y123H	Y	+	1	0	DAGLA	61246966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	TAC		0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		100	476	0	0	0	1	0	100	476					C	61490390	T	C	61490390	3	2	79	1	0	0	0	0	1	0	0	0	4237	1522	53	4	377	4	DAGLA	11	61490390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166771	61490390	73516126	12148	22465											
DAGLA	747	broad.mit.edu	37	chr11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctagcaagagatgctccGctacaaagaggtctgctact	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	288					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(862-864)cGc>cAc		diacylglycerol lipase, alpha							88	79	82					11																	61498802		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61498802G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.863G>A	11.37:g.61498802G>A	ENSP00000257215:p.Arg288His						p.R288H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	9	979	+			288					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.863G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609647	0.46527	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	4.83	4.83	0.62350	.	0.051766	0.85682	D	0.000000	T	0.18841	0.0452	N	0.14661	0.345	0.51767	D	0.999934	D	0.61080	0.989	P	0.45232	0.474	T	0.04840	-1.0923	10	0.15066	T	0.55	-31.8186	18.3022	0.90168	0.0:0.0:1.0:0.0	.	288	Q9Y4D2	DGLA_HUMAN	H	288	ENSP00000257215:R288H	ENSP00000257215:R288H	R	+	2	0	DAGLA	61255378	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.339000	0.72969	2.416000	0.81992	0.555000	0.69702	CGC		0.632	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		82	355	0	0	0	1	0	82	355					A	61498802	G	A	61498802	3	1	79	1	0	0	0	0	1	0	0	0	4237	1087	38	1	893	1	DAGLA	11	61498802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8412	61498802	73507714	12149	22466											
DAGLA	747	broad.mit.edu	37	chr11	61503244	61503244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgacgggtgatgctgagCgcctccccgtggaggggcac	16	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61503244C>T	ENST00000257215.5	+	12	1362	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	416					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGATGCTGAGCGCCTCCCCGT	0.667																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1246-1248)Cgc>Tgc		diacylglycerol lipase, alpha							47	42	44					11																	61503244		2201	4299	6500	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61503244C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1246C>T	11.37:g.61503244C>T	ENSP00000257215:p.Arg416Cys						p.R416C	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	12	1362	+			416					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1246C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662092	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.54805	T	0.06	-27.7272	16.3615	0.83270	0.0:1.0:0.0:0.0	.	416	Q9Y4D2	DGLA_HUMAN	C	416	ENSP00000257215:R416C	ENSP00000257215:R416C	R	+	1	0	DAGLA	61259820	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.453000	0.66645	2.157000	0.67596	0.462000	0.41574	CGC		0.667	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	120	0	0	0	1	0	5	120					T	61503244	C	T	61503244	3	4	79	1	0	0	0	0	1	0	0	0	4237	768	27	1	1288	1	DAGLA	11	61503244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4442	61503244	73503272	12150	22467											
DAGLA	747	broad.mit.edu	37	chr11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccacgtggtccacaaccAccctgcagagcagtgctggt	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	612					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1834-1836)cAc>cCc		diacylglycerol lipase, alpha							88	77	81					11																	61507115		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61507115A>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1835A>C	11.37:g.61507115A>C	ENSP00000257215:p.His612Pro						p.H612P	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	17	1951	+			612					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1835A>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701586	0.68501	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.35847	-0.9772	10	0.42905	T	0.14	-33.9652	13.6453	0.62277	1.0:0.0:0.0:0.0	.	612	Q9Y4D2	DGLA_HUMAN	P	612	ENSP00000257215:H612P	ENSP00000257215:H612P	H	+	2	0	DAGLA	61263691	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.266000	0.95659	1.688000	0.51068	0.379000	0.24179	CAC		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		53	228	0	0	0	1	0	53	228					C	61507115	A	C	61507115	3	2	79	1	0	0	0	0	1	0	0	0	4237	159	6	4	1897	4	DAGLA	11	61507115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3871	61507115	73499401	12151	22468											
C11orf9	745	broad.mit.edu	37	chr11	61537791	61537791	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccgcctggagcatccGcccccacctccagcccactt	6	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61537791G>T	ENST00000278836.5	+	5	630	c.534G>T	c.(532-534)ccG>ccT	p.P178P	MYRF_ENST00000265460.5_Silent_p.P169P|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	178	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGAGCATCCGCCCCCACCTC	0.692																																						ENST00000278836.5																			0											c.(532-534)ccG>ccT		myelin regulatory factor							12	11	12					11																	61537791		2181	4288	6469	SO:0001819	synonymous_variant	745							g.chr11:61537791G>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.534G>T	11.37:g.61537791G>T						MYRF_ENST00000265460.5_Silent_p.P169P|TMEM258_ENST00000535042.1_Intron	p.P178P	NM_001127392.1	NP_001120864.1					5	630	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.534G>T	CCDS44622.1																																																																																				0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		10	58	1	0	2.80697e-09	1	2.95087e-09	10	58					T	61537791	G	T	61537791	2	4	79	1	0	0	0	0	0	0	0	1	1676	1074	38	3		3	C11orf9	11	61537791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30676	61537791	73468725	12152	22469											
C11orf9	745	broad.mit.edu	37	chr11	61543861	61543861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttcagcgagaccaccGctaacaacatgcgtaagaag	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61543861G>A	ENST00000278836.5	+	10	1552	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	MYRF_ENST00000327797.1_Missense_Mutation_p.A111T|MYRF_ENST00000265460.5_Missense_Mutation_p.A477T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	486					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGAGACCACCGCTAACAACAT	0.642											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278836.5																			0											c.(1456-1458)Gct>Act		myelin regulatory factor							26	26	26					11																	61543861		2202	4299	6501	SO:0001583	missense	745							g.chr11:61543861G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1456G>A	11.37:g.61543861G>A	ENSP00000278836:p.Ala486Thr		OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	MYRF_ENST00000327797.1_Missense_Mutation_p.A111T|MYRF_ENST00000265460.5_Missense_Mutation_p.A477T|TMEM258_ENST00000535042.1_Intron	p.A486T	NM_001127392.1	NP_001120864.1					10	1552	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1456G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087096	0.94100	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.51071	1.25;1.25;0.72	4.57	3.64	0.41730	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.115700	0.56097	D	0.000021	T	0.65344	0.2682	M	0.73753	2.245	0.58432	D	0.999998	D;D	0.65815	0.995;0.977	D;P	0.64687	0.928;0.701	T	0.68010	-0.5522	10	0.48119	T	0.1	-21.0715	14.1629	0.65457	0.0:0.0:0.8487:0.1513	.	477;486	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	T	486;477;111	ENSP00000278836:A486T;ENSP00000265460:A477T;ENSP00000333261:A111T	ENSP00000265460:A477T	A	+	1	0	C11orf9	61300437	1.000000	0.71417	0.736000	0.30914	0.946000	0.59487	9.416000	0.97383	1.026000	0.39733	0.455000	0.32223	GCT		0.642	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		33	130	0	0	0	1	0	33	130					A	61543861	G	A	61543861	3	1	79	1	0	0	0	0	1	0	0	0	1676	1087	38	1	1517	1	C11orf9	11	61543861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6070	61543861	73462655	12153	22470											
C11orf9	745	broad.mit.edu	37	chr11	61551832	61551832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggagccttccacagaGtctccacacccaccaggaca	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61551832G>T	ENST00000278836.5	+	25	3371	c.3275G>T	c.(3274-3276)aGt>aTt	p.S1092I	MYRF_ENST00000265460.5_Missense_Mutation_p.S1052I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.S478I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1092					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTCCACAGAGTCTCCACACC	0.632																																						ENST00000278836.5																			0											c.(3274-3276)aGt>aTt		myelin regulatory factor							56	47	50					11																	61551832		2202	4299	6501	SO:0001583	missense	745							g.chr11:61551832G>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3275G>T	11.37:g.61551832G>T	ENSP00000278836:p.Ser1092Ile					MYRF_ENST00000389602.4_Missense_Mutation_p.S478I|MYRF_ENST00000265460.5_Missense_Mutation_p.S1052I|TMEM258_ENST00000535042.1_Intron	p.S1092I	NM_001127392.1	NP_001120864.1					25	3371	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3275G>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484299	0.26598	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.50548	0.74;0.74;0.74	4.74	0.464	0.16706	.	0.892482	0.09985	N	0.730503	T	0.51958	0.1705	L	0.53249	1.67	0.09310	N	0.999999	P;B;P	0.49253	0.921;0.23;0.517	P;B;P	0.52957	0.714;0.116;0.522	T	0.42982	-0.9419	10	0.46703	T	0.11	-2.0972	8.519	0.33264	0.0874:0.4278:0.4848:0.0	.	478;1052;1092	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	I	1092;1052;478	ENSP00000278836:S1092I;ENSP00000265460:S1052I;ENSP00000374253:S478I	ENSP00000265460:S1052I	S	+	2	0	C11orf9	61308408	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.056000	0.14256	-0.010000	0.14271	-0.140000	0.14226	AGT		0.632	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		18	123	1	0	3.8784e-16	1	4.25319e-16	18	123					T	61551832	G	T	61551832	3	4	79	1	0	0	0	0	1	0	0	0	1676	1029	36	3	3399	3	C11orf9	11	61551832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7971	61551832	73454684	12154	22471											
FADS1	3992	broad.mit.edu	37	chr11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccaatcaggagagagttCatatacttcttcacaaggcc	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS1_ENST00000541683.1_5'Flank|FADS2_ENST00000574708.1_Intron|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	85					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(424-426)atG>atT		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						135	144	141					11																	61580775		2089	4219	6308	SO:0001583	missense	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61580775C>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.426G>T	11.37:g.61580775C>A	ENSP00000322229:p.Met142Ile					FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000574708.1_Intron	p.M142I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			2	658	-			85					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	c.426G>T	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033804	0.75504	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;2.03;2.03;1.57;1.57;1.58;1.55;0.85;0.86;0.85	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	T	0.80613	0.4656	L	0.56396	1.775	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.76798	-0.2826	9	0.72032	D	0.01	-10.6168	19.2379	0.93869	0.0:1.0:0.0:0.0	.	85	O60427	FADS1_HUMAN	I	142;1;1;1;1;1;1;1;1;1;1;1;1;1	ENSP00000322229:M142I;ENSP00000405087:M1I;ENSP00000441403:M1I;ENSP00000441871:M1I;ENSP00000442170:M1I;ENSP00000440652:M1I;ENSP00000416043:M1I;ENSP00000443037:M1I;ENSP00000446270:M1I;ENSP00000439790:M1I	ENSP00000322229:M142I	M	-	3	0	FADS1	61337351	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.037000	0.64170	2.716000	0.92895	0.655000	0.94253	ATG		0.512	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		145	643	1	0	1.51433e-70	1	1.92372e-70	145	643					A	61580775	C	A	61580775	3	1	79	1	0	0	0	0	1	0	0	0	5386	826	29	3	1123	3	FADS1	11	61580775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28943	61580775	73425741	12155	22472											
FADS3	3995	broad.mit.edu	37	chr11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccactccctgccatacctgAcagcaacaaagaagagcagc	8	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000278829.2	-	8	1132	c.980T>A	c.(979-981)gTc>gAc	p.V327D	FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000540820.1_Missense_Mutation_p.V327D	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	327					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(979-981)gTc>gAc		fatty acid desaturase 3							73	64	67					11																	61644341		2194	4296	6490	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61644341A>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.980T>A	11.37:g.61644341A>T	ENSP00000278829:p.Val327Asp					FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000278829.2_Missense_Mutation_p.V327D	p.V327D			Q9Y5Q0	FADS3_HUMAN			8	1052	-			327					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.980T>A	CCDS8013.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	26.2|26.2|26.2	4.713735|4.713735|4.713735	0.89112|0.89112|0.89112	.|.|.	.|.|.	ENSG00000221968|ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527379|ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588	.|.|T;T;T;T	.|.|0.73469	.|.|-0.75;-0.75;-0.75;-0.75	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Fatty acid desaturase, type 1 (1);	.|.|.	.|.|.	.|.|.	.|.|.	.|D|D	.|0.88265|0.88265	.|0.6390|0.6390	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59357	.|.|0.915;0.985	.|.|D;D	.|.|0.69142	.|.|0.936;0.962	.|D|D	.|0.89161|0.89161	.|0.3530|0.3530	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	12.8165|12.8165|12.8165	0.57669|0.57669|0.57669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|203;327	.|.|E9PKP8;Q9Y5Q0	.|.|.;FADS3_HUMAN	X|T|D	1|102|203;327;327;299	.|.|ENSP00000431533:V203D;ENSP00000278829:V327D;ENSP00000439308:V327D;ENSP00000432206:V299D	.|.|ENSP00000278829:V327D	C|S|V	-|-|-	3|1|2	2|0|0	FADS3|FADS3|FADS3	61400917|61400917|61400917	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.444000|7.444000|7.444000	0.80532|0.80532|0.80532	2.046000|2.046000|2.046000	0.60703|0.60703|0.60703	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	TGT|TCA|GTC		0.612	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			14	55	0	0	0	1	0	14	55					T	61644341	A	T	61644341	3	4	79	1	0	0	0	0	1	0	0	0	5388	275	10	5	377	5	FADS3	11	61644341	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63566	61644341	73362175	12156	22473											
FADS3	3995	broad.mit.edu	37	chr11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcactcaggaagaagtAcaggtgctgctggttgtagg	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000278829.2	-	6	948	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	266					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(796-798)Tac>Cac		fatty acid desaturase 3							257	215	229					11																	61645639		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645639A>G		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.796T>C	11.37:g.61645639A>G	ENSP00000278829:p.Tyr266His					FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000278829.2_Missense_Mutation_p.Y266H	p.Y266H			Q9Y5Q0	FADS3_HUMAN			6	868	-			266					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.796T>C	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058693	0.76074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.35	4.18	0.49190	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.87063	0.6084	H	0.94847	3.59	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89775	0.3957	9	0.87932	D	0	-10.4061	11.4256	0.50009	0.8493:0.1507:0.0:0.0	.	142;266	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	H	142;266;266;238;142;142	ENSP00000431533:Y142H;ENSP00000278829:Y266H;ENSP00000439308:Y266H;ENSP00000432206:Y238H;ENSP00000436890:Y142H;ENSP00000434551:Y142H	ENSP00000278829:Y266H	Y	-	1	0	FADS3	61402215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.041000	0.60428	0.533000	0.62120	TAC		0.602	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			122	580	0	0	0	1	0	122	580					G	61645639	A	G	61645639	3	3	79	1	0	0	0	0	1	0	0	0	5388	391	14	4	569	4	FADS3	11	61645639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1298	61645639	73360877	12157	22474											
FADS3	3995	broad.mit.edu	37	chr11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcccccaggaggaagaCgggcgccaccgtcacgtctg	13	15	2	2	rs542548263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000278829.2	-	5	870	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	240					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAGGAAGACGGGCGCCACC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17653	0.0		0.0	False		,,,				2504	0.0					ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(718-720)Gtc>Atc		fatty acid desaturase 3							109	104	106					11																	61646013		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646013C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.718G>A	11.37:g.61646013C>T	ENSP00000278829:p.Val240Ile					FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000278829.2_Missense_Mutation_p.V240I	p.V240I			Q9Y5Q0	FADS3_HUMAN			5	790	-			240					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.718G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436452	0.12104	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.51	2.62	0.31277	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.28928	0.0718	N	0.16307	0.4	0.32096	N	0.59122	B;B	0.12013	0.0;0.005	B;B	0.15870	0.005;0.014	T	0.26677	-1.0096	9	0.27785	T	0.31	-8.0686	8.2672	0.31821	0.1553:0.7602:0.0:0.0845	.	116;240	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	116;240;240;212;116;116	ENSP00000431533:V116I;ENSP00000278829:V240I;ENSP00000439308:V240I;ENSP00000432206:V212I;ENSP00000436890:V116I;ENSP00000434551:V116I	ENSP00000278829:V240I	V	-	1	0	FADS3	61402589	0.000000	0.05858	0.828000	0.32881	0.090000	0.18270	-2.451000	0.01006	0.453000	0.26858	-0.268000	0.10319	GTC		0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			18	422	0	0	0	1	0	18	422					T	61646013	C	T	61646013	3	4	79	1	0	0	0	0	1	0	0	0	5388	536	19	1	651	1	FADS3	11	61646013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	61646013	73360503	12158	22475											
BEST1	7439	broad.mit.edu	37	chr11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcctcggatggagcCggacatgtactggaataagc	14	10	0	0	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000378043.4	+	9	1644	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	334					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(820-822)cCg>cTg		bestrophin 1		C	LEU/PRO,LEU/PRO	0,4404		0,0,2202	69	59	62		821,1001	0.8	0.8	11	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BEST1	NM_001139443.1,NM_004183.3	98,98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	274/605,334/586	61727416	1,13001	2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61727416C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1001C>T	11.37:g.61727416C>T	ENSP00000367282:p.Pro334Leu					FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|BEST1_ENST00000378043.4_Missense_Mutation_p.P334L|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_Intron	p.P274L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			8	907	+			334					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.821C>T	CCDS31580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926903|2.926903	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167995|ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131|ENST00000526988	D;D;D|D	0.96802|0.99158	-4.13;-3.81;-4.08|-5.5	5.02|5.02	0.81|0.81	0.18732|0.18732	.|.	0.563498|.	0.18960|.	N|.	0.126429|.	D|D	0.95717|0.95717	0.8607|0.8607	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|D;D	0.31227|0.69078	0.314;0.13;0.314|0.997;0.997	B;B;B|P;P	0.21360|0.49637	0.024;0.011;0.034|0.617;0.617	D|D	0.92229|0.92229	0.5791|0.5791	10|9	0.87932|0.66056	D|D	0|0.02	-11.183|-11.183	5.1413|5.1413	0.14961|0.14961	0.4175:0.1753:0.4072:0.0|0.4175:0.1753:0.4072:0.0	.|.	247;334;274|296;342	O76090-4;O76090;O76090-3|B7Z1N8;B7Z336	.;BEST1_HUMAN;.|.;.	L|W	334;247;274|296	ENSP00000367282:P334L;ENSP00000367281:P247L;ENSP00000399709:P274L|ENSP00000433195:R296W	ENSP00000367281:P247L|ENSP00000432681:R402W	P|R	+|+	2|1	0|2	BEST1|BEST1	61483992|61483992	1.000000|1.000000	0.71417|0.71417	0.755000|0.755000	0.31263|0.31263	0.223000|0.223000	0.24884|0.24884	2.021000|2.021000	0.41020|0.41020	0.204000|0.204000	0.20548|0.20548	-0.300000|-0.300000	0.09419|0.09419	CCG|CGG		0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		15	115	0	0	0	1	0	15	115					T	61727416	C	T	61727416	3	4	79	1	0	0	0	0	1	0	0	0	1405	652	23	1	1031	1	BEST1	11	61727416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81403	61727416	73279100	12159	22476											
BEST1	7439	broad.mit.edu	37	chr11	61730290	61730290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaatcacctcaaagaacCtttggaacaatcaccaacca	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61730290C>A	ENST00000378043.4	+	10	2307	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|BEST1_ENST00000449131.2_Missense_Mutation_p.P495H|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	555					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAAAGAACCTTTGGAACAA	0.478																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1483-1485)cCt>cAt		bestrophin 1							144	154	151					11																	61730290		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730290C>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1664C>A	11.37:g.61730290C>A	ENSP00000367282:p.Pro555His					FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|BEST1_ENST00000378043.4_Missense_Mutation_p.P555H|FTH1_ENST00000529191.1_Intron	p.P495H	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1570	+			555					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1484C>A	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076004	0.20227	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.96992	-4.19;-3.98;-0.15;-4.2	3.97	0.871	0.19107	.	2.113420	0.02237	N	0.065424	D	0.92166	0.7516	L	0.27053	0.805	0.20074	N	0.999932	B;B;B	0.20261	0.011;0.006;0.043	B;B;B	0.18871	0.012;0.005;0.023	T	0.83072	-0.0142	10	0.42905	T	0.14	-0.0463	4.6544	0.12610	0.1568:0.6:0.1525:0.0907	.	468;555;495	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	H	555;468;183;495	ENSP00000367282:P555H;ENSP00000367281:P468H;ENSP00000301774:P183H;ENSP00000399709:P495H	ENSP00000301774:P183H	P	+	2	0	BEST1	61486866	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.617000	0.24359	0.373000	0.24621	0.561000	0.74099	CCT		0.478	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		9	349	1	0	0.00829132	1	0.00834067	9	349					A	61730290	C	A	61730290	3	1	79	1	0	0	0	0	1	0	0	0	1405	681	24	3	1698	3	BEST1	11	61730290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2874	61730290	73276226	12160	22477											
INCENP	3619	broad.mit.edu	37	chr11	61908436	61908436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcagaggaaccagatgCtcatgaccccgacctcagcc	10	15	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61908436C>A	ENST00000394818.3	+	10	1715	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	505					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACCAGATGCTCATGACCCC	0.632																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1513-1515)Ctc>Atc		inner centromere protein antigens 135/155kDa							79	78	78					11																	61908436		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908436C>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1513C>A	11.37:g.61908436C>A	ENSP00000378295:p.Leu505Ile					INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			10	1715	+			505					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1513C>A	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140644	0.77775	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.48836	0.8;0.8	5.46	5.46	0.80206	.	0.000000	0.47093	D	0.000253	T	0.68393	0.2996	M	0.71581	2.175	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	T	0.69312	-0.5178	10	0.52906	T	0.07	.	16.8154	0.85733	0.0:1.0:0.0:0.0	.	505;505;505	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	I	505	ENSP00000378295:L505I;ENSP00000278849:L505I	ENSP00000278849:L505I	L	+	1	0	INCENP	61665012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.641000	0.74324	2.573000	0.86826	0.655000	0.94253	CTC		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		10	354	1	0	2.17888e-05	1	2.22852e-05	10	354					A	61908436	C	A	61908436	3	1	79	1	0	0	0	0	1	0	0	0	7763	797	28	3	1547	3	INCENP	11	61908436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178146	61908436	73098080	12161	22478											
INCENP	3619	broad.mit.edu	37	chr11	61917621	61917621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggatggatctgaatagCgacgactccaccgatgatga	12	9	1	3	rs564081482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	828					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.002					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2482-2484)agC>agT		inner centromere protein antigens 135/155kDa							96	84	88					11																	61917621		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61917621C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2484C>T	11.37:g.61917621C>T						INCENP_ENST00000278849.4_Silent_p.S824S	p.S828S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			18	2686	+			828					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.2484C>T	CCDS44624.1																																																																																				0.592	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		81	362	0	0	0	1	0	81	362					T	61917621	C	T	61917621	2	4	79	1	0	0	0	0	0	0	0	1	7763	767	27	1		1	INCENP	11	61917621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9185	61917621	73088895	12162	22479											
INCENP	3619	broad.mit.edu	37	chr11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaccgcccctgcaggGcgccagggtccccagcagcc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	904					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2710-2712)gGc>gAc		inner centromere protein antigens 135/155kDa							35	37	36					11																	61919402		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61919402G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2711G>A	11.37:g.61919402G>A	ENSP00000378295:p.Gly904Asp					INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	p.G904D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			19	2913	+			904					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.2711G>A	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349411	0.41599	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15718	2.46;2.4	5.66	0.169	0.15017	.	0.256920	0.27558	N	0.018829	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.141	0.20259	0.0733:0.3729:0.4324:0.1213	.	900;904	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	D	904;900	ENSP00000378295:G904D;ENSP00000278849:G900D	ENSP00000278849:G900D	G	+	2	0	INCENP	61675978	0.991000	0.36638	0.069000	0.20011	0.248000	0.25809	2.172000	0.42463	0.016000	0.14998	0.462000	0.41574	GGC		0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		43	236	0	0	0	1	0	43	236					A	61919402	G	A	61919402	3	1	79	1	0	0	0	0	1	0	0	0	7763	1203	42	2	2781	2	INCENP	11	61919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	61919402	73087114	12163	22480											
SCGB2A1	4246	broad.mit.edu	37	chr11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaaagaccatcaattccGacatatctatacctgaatac	4	10	2	3	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	36					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0					ENST00000244930.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(106-108)Gac>Aac		secretoglobin, family 2A, member 1		G	ASN/ASP	11,4393	17.9+/-39.9	0,11,2191	103	109	107		106	-7.1	0	11	dbSNP_134	107	0,8598		0,0,4299	yes	missense	SCGB2A1	NM_002407.2	23	0,11,6490	AA,AG,GG		0.0,0.2498,0.0846	benign	36/96	61977935	11,12991	2202	4299	6501	SO:0001583	missense	4246					extracellular region	androgen binding	g.chr11:61977935G>A	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"Secretoglobins"	7051	protein-coding gene	gene with protein product	"lipophilin C", "mammaglobin B", "lacryglobin"	604398	"mammaglobin 2"	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.106G>A	11.37:g.61977935G>A	ENSP00000244930:p.Asp36Asn						p.D36N	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN			2	170	+			36						Missense_Mutation	SNP	ENST00000244930.4	37	c.106G>A	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895658	0.17686	0.002498	0.0	ENSG00000124939	ENST00000244930	T	0.39997	1.05	3.54	-7.08	0.01558	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.36534	0.227	T	0.06552	-1.0820	8	0.19147	T	0.46	.	1.3238	0.02121	0.1647:0.3311:0.2854:0.2188	.	36	O75556	SG2A1_HUMAN	N	36	ENSP00000244930:D36N	ENSP00000244930:D36N	D	+	1	0	SCGB2A1	61734511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-3.616000	0.00131	-0.315000	0.08773	GAC		0.403	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		93	511	0	0	0	1	0	93	511					A	61977935	G	A	61977935	3	1	79	1	0	0	0	0	1	0	0	0	13949	1058	37	1	112	1	SCGB2A1	11	61977935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58533	61977935	73028581	12164	22481											
SCGB1D4	404552	broad.mit.edu	37	chr11	62064997	62064997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatctgatcggtgcagtgCttcacttccaacttggctgc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	63						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(187-189)aaG>aaA		secretoglobin, family 1D, member 4							219	232	227					11																	62064997		2202	4299	6501	SO:0001819	synonymous_variant	404552					extracellular region	binding	g.chr11:62064997C>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"Secretoglobins"	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.189G>A	11.37:g.62064997C>T							p.K63K	NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN			2	242	-			63					A1L4Q8	Silent	SNP	ENST00000358585.1	37	c.189G>A	CCDS31583.1																																																																																				0.428	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		277	1151	0	0	0	1	0	277	1151					T	62064997	C	T	62064997	2	4	79	1	0	0	0	0	0	0	0	1	13948	796	28	2		2	SCGB1D4	11	62064997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87062	62064997	72941519	12165	22482											
AHNAK	79026	broad.mit.edu	37	chr11	62284885	62284885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaccagctcacggccagaGaaggtaaatttggggatctt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5668					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGGCCAGAGAAGGTAAATT	0.532																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17002-17004)ttC>ttT		AHNAK nucleoprotein							52	53	52					11																	62284885		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284885G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17004C>T	11.37:g.62284885G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F5668F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17278	-		Melanoma(852;0.155)	5668					A1A586	Silent	SNP	ENST00000378024.4	37	c.17004C>T	CCDS31584.1																																																																																				0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		75	265	0	0	0	1	0	75	265					A	62284885	G	A	62284885	2	1	79	1	0	0	0	0	0	0	0	1	414	933	33	2		2	AHNAK	11	62284885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219888	62284885	72721631	12166	22483											
AHNAK	79026	broad.mit.edu	37	chr11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaaggcccccagcaAacttagatgtgtccaagttg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5613	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCCAGCAAACTTAGATGT	0.542																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16837-16839)tTt>tGt		AHNAK nucleoprotein							117	133	127					11																	62285051		2199	4297	6496	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285051A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16838T>G	11.37:g.62285051A>C	ENSP00000367263:p.Phe5613Cys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F5613C	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17112	-		Melanoma(852;0.155)	5613			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16838T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329771	0.24167	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.85	3.73	0.42828	.	0.956702	0.08511	U	0.934902	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.60789	0.879	T	0.57470	-0.7806	10	0.41790	T	0.15	0.0	8.3362	0.32217	0.9051:0.0:0.0949:0.0	.	5613	Q09666	AHNK_HUMAN	C	5613	ENSP00000367263:F5613C	ENSP00000367263:F5613C	F	-	2	0	AHNAK	62041627	0.127000	0.22367	0.001000	0.08648	0.394000	0.30568	5.271000	0.65553	0.709000	0.31976	0.519000	0.50382	TTT		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		199	764	0	0	0	1	0	199	764					C	62285051	A	C	62285051	3	2	79	1	0	0	0	0	1	0	0	0	414	14	1	4	954	4	AHNAK	11	62285051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166	62285051	72721465	12167	22484											
AHNAK	79026	broad.mit.edu	37	chr11	62285755	62285755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttagggcatttgatgtcAccagagacagccagatctcc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5378					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTGATGTCACCAGAGACAG	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16132-16134)ggT>ggC		AHNAK nucleoprotein							102	83	89					11																	62285755		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285755A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16134T>C	11.37:g.62285755A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G5378G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16408	-		Melanoma(852;0.155)	5378					A1A586	Silent	SNP	ENST00000378024.4	37	c.16134T>C	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		78	385	0	0	0	1	0	78	385					G	62285755	A	G	62285755	2	3	79	1	0	0	0	0	0	0	0	1	414	146	6	4		4	AHNAK	11	62285755	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	704	62285755	72720761	12168	22485											
AHNAK	79026	broad.mit.edu	37	chr11	62285818	62285818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacatctggtgccccaacGttaagctttgttgtggcatc	10	11	2	0	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5357					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCCCAACGTTAAGCTTTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19724	0.0		0.0	False		,,,				2504	0.001					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16069-16071)aaC>aaT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	122	93	103		16071,	-5	0	11	dbSNP_134	103	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	5357/5891,	62285818	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285818G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16071C>T	11.37:g.62285818G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.N5357N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16345	-		Melanoma(852;0.155)	5357					A1A586	Silent	SNP	ENST00000378024.4	37	c.16071C>T	CCDS31584.1																																																																																				0.557	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		81	363	0	0	0	1	0	81	363					A	62285818	G	A	62285818	2	1	79	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62285818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	62285818	72720698	12169	22486											
AHNAK	79026	broad.mit.edu	37	chr11	62286943	62286943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttggggctttttgccccAaatccaaacttgggtttctt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4982					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTTGCCCCAAATCCAAACT	0.448																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14944-14946)ttT>ttC		AHNAK nucleoprotein							79	85	83					11																	62286943		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62286943A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14946T>C	11.37:g.62286943A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F4982F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15220	-		Melanoma(852;0.155)	4982					A1A586	Silent	SNP	ENST00000378024.4	37	c.14946T>C	CCDS31584.1																																																																																				0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		107	490	0	0	0	1	0	107	490					G	62286943	A	G	62286943	2	3	79	1	0	0	0	0	0	0	0	1	414	127	5	4		4	AHNAK	11	62286943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1125	62286943	72719573	12170	22487											
AHNAK	79026	broad.mit.edu	37	chr11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcattttcactttgggCatttttaggtgccagtctgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4652					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACTTTGGGCATTTTTAGGT	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13954-13956)atG>atA		AHNAK nucleoprotein							211	215	214					11																	62287933		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287933C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13956G>A	11.37:g.62287933C>T	ENSP00000367263:p.Met4652Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M4652I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14230	-		Melanoma(852;0.155)	4652					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13956G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797458	0.31777	.	.	ENSG00000124942	ENST00000378024	T	0.01918	4.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.89534	3.04	0.39705	D	0.971245	D	0.56521	0.976	D	0.73380	0.98	T	0.12372	-1.0550	10	0.25751	T	0.34	-32.4759	18.5463	0.91047	0.0:1.0:0.0:0.0	.	4652	Q09666	AHNK_HUMAN	I	4652	ENSP00000367263:M4652I	ENSP00000367263:M4652I	M	-	3	0	AHNAK	62044509	0.998000	0.40836	1.000000	0.80357	0.275000	0.26752	1.013000	0.29937	2.468000	0.83385	0.543000	0.68304	ATG		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		248	1297	0	0	0	1	0	248	1297					T	62287933	C	T	62287933	3	4	79	1	0	0	0	0	1	0	0	0	414	710	25	2	3836	2	AHNAK	11	62287933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990	62287933	72718583	12171	22488											
AHNAK	79026	broad.mit.edu	37	chr11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaacttggggcccttcaGctttgcatctggaccttcaa	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3654					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTTCAGCTTTGCATCT	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10960-10962)Ctg>Atg		AHNAK nucleoprotein							208	214	212					11																	62290929		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290929G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10960C>A	11.37:g.62290929G>T	ENSP00000367263:p.Leu3654Met					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3654M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11234	-		Melanoma(852;0.155)	3654					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10960C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760746	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.16	0.884	0.19182	.	1.419600	0.05322	N	0.526753	T	0.03305	0.0096	M	0.88775	2.98	0.20403	N	0.99991	P	0.37663	0.604	B	0.36134	0.218	T	0.43861	-0.9365	10	0.38643	T	0.18	-6.531	2.8861	0.05661	0.2244:0.1249:0.5235:0.1273	.	3654	Q09666	AHNK_HUMAN	M	3654	ENSP00000367263:L3654M	ENSP00000367263:L3654M	L	-	1	2	AHNAK	62047505	0.000000	0.05858	0.287000	0.24848	0.643000	0.38383	-2.341000	0.01100	0.482000	0.27582	0.579000	0.79373	CTG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		301	1202	1	0	1.53719e-90	1	1.97347e-90	301	1202					T	62290929	G	T	62290929	3	4	79	1	0	0	0	0	1	0	0	0	414	962	34	3	6832	3	AHNAK	11	62290929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	62290929	72715587	12172	22489											
AHNAK	79026	broad.mit.edu	37	chr11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccggaccttccacattgaGatctgggccctcaatgttca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTGAGATCTGGGCCC	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10549-10551)Ctc>Atc		AHNAK nucleoprotein							103	107	106					11																	62291340		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291340G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10549C>A	11.37:g.62291340G>T	ENSP00000367263:p.Leu3517Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3517I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10823	-		Melanoma(852;0.155)	3517					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10549C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.538701	0.00942	.	.	ENSG00000124942	ENST00000378024	T	0.00642	6.02	4.81	-9.61	0.00550	.	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.49184	-0.8966	9	0.15499	T	0.54	.	13.4681	0.61268	0.0:0.5675:0.2339:0.1986	.	3517	Q09666	AHNK_HUMAN	I	3517	ENSP00000367263:L3517I	ENSP00000367263:L3517I	L	-	1	0	AHNAK	62047916	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-3.861000	0.00348	-2.639000	0.00430	0.447000	0.29281	CTC		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		164	568	1	0	7.52437e-61	1	9.46778e-61	164	568					T	62291340	G	T	62291340	3	4	79	1	0	0	0	0	1	0	0	0	414	942	33	3	7243	3	AHNAK	11	62291340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	62291340	72715176	12173	22490											
AHNAK	79026	broad.mit.edu	37	chr11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggaaacgtccacttctgGgccctttatatccaaactgg	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3332					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGGCCCTTTATA	0.418																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9994-9996)Cca>Aca		AHNAK nucleoprotein							52	49	50					11																	62291895		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291895G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9994C>A	11.37:g.62291895G>T	ENSP00000367263:p.Pro3332Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3332T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10268	-		Melanoma(852;0.155)	3332					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9994C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734589	0.30774	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.37	4.37	0.52481	.	.	.	.	.	T	0.37265	0.0997	H	0.96720	3.87	0.30628	N	0.757809	D	0.89917	1.0	D	0.85130	0.997	T	0.56038	-0.8045	9	0.66056	D	0.02	.	12.4383	0.55612	0.0:0.1695:0.8305:0.0	.	3332	Q09666	AHNK_HUMAN	T	3332	ENSP00000367263:P3332T	ENSP00000367263:P3332T	P	-	1	0	AHNAK	62048471	1.000000	0.71417	0.983000	0.44433	0.383000	0.30230	7.257000	0.78362	1.975000	0.57531	0.305000	0.20034	CCA		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		54	196	1	0	1.07234e-20	1	1.20343e-20	54	196					T	62291895	G	T	62291895	3	4	79	1	0	0	0	0	1	0	0	0	414	1232	43	3	7798	3	AHNAK	11	62291895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	62291895	72714621	12174	22491											
AHNAK	79026	broad.mit.edu	37	chr11	62293900	62293900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacatcaatgtcagccttGggcagcttcacatccccatc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2663					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGCTTCA	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7987-7989)ccC>ccT		AHNAK nucleoprotein							175	176	176					11																	62293900		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293900G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7989C>T	11.37:g.62293900G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2663P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8263	-		Melanoma(852;0.155)	2663					A1A586	Silent	SNP	ENST00000378024.4	37	c.7989C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		233	1048	0	0	0	1	0	233	1048					A	62293900	G	A	62293900	2	1	79	1	0	0	0	0	0	0	0	1	414	1335	47	2		2	AHNAK	11	62293900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2005	62293900	72712616	12175	22492											
AHNAK	79026	broad.mit.edu	37	chr11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcaatgtccattttgGgtcctttgatgtcaacatct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2028					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCATTTTGGGTCCTTTGAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6082-6084)cCc>cTc		AHNAK nucleoprotein							341	333	336					11																	62295806		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295806G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6083C>T	11.37:g.62295806G>A	ENSP00000367263:p.Pro2028Leu					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2028L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6357	-		Melanoma(852;0.155)	2028					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6083C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898950	0.17686	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.9	3.9	0.45041	.	0.000000	0.34555	U	0.003875	T	0.40247	0.1109	H	0.97940	4.11	0.45087	D	0.9981	D	0.76494	0.999	D	0.76575	0.988	T	0.65676	-0.6110	10	0.87932	D	0	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2028	Q09666	AHNK_HUMAN	L	117;2028	ENSP00000367263:P2028L	ENSP00000244934:P117L	P	-	2	0	AHNAK	62052382	.	.	0.153000	0.22517	0.340000	0.28889	.	.	1.723000	0.51488	0.298000	0.19748	CCC		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		388	1818	0	0	0	1	0	388	1818					A	62295806	G	A	62295806	3	1	79	1	0	0	0	0	1	0	0	0	414	1232	43	2	11709	2	AHNAK	11	62295806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1906	62295806	72710710	12176	22493											
AHNAK	79026	broad.mit.edu	37	chr11	62296060	62296060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctccaattttggcacCgacacatccacatccccttt	3	18	1	0	rs601430	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	ENST00000378024.4	-	5	6103	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1943					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S1943S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTTGGCACCGACACATCCA	0.512													A|||	3	0.000599042	0.0	0.0	5008	,	,		21526	0.0		0.0	False		,,,				2504	0.0031					ENST00000378024.4																			1	Substitution - coding silent(1)	p.S1943S(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5827-5829)tcG>tcA		AHNAK nucleoprotein							214	223	220					11																	62296060		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296060C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5829G>A	11.37:g.62296060C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S1943S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6103	-		Melanoma(852;0.155)	1943					A1A586	Silent	SNP	ENST00000378024.4	37	c.5829G>A	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		313	1272	0	0	0	1	0	313	1272					T	62296060	C	T	62296060	2	4	79	1	0	0	0	0	0	0	0	1	414	639	23	1		1	AHNAK	11	62296060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254	62296060	72710456	12177	22494											
AHNAK	79026	broad.mit.edu	37	chr11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatatgcaagtccacatcaGgcatggagatcttgggggcc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	949					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCAGGCATGGAGAT	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2845-2847)cCt>cAt		AHNAK nucleoprotein							154	165	161					11																	62299043		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299043G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2846C>A	11.37:g.62299043G>T	ENSP00000367263:p.Pro949His					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P949H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3120	-		Melanoma(852;0.155)	949					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2846C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821686	0.71028	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.78	4.78	0.61160	.	0.133316	0.51477	D	0.000095	T	0.39279	0.1072	H	0.96015	3.755	0.41368	D	0.987472	D	0.89917	1.0	D	0.87578	0.998	T	0.60596	-0.7232	10	0.72032	D	0.01	-5.9758	17.7797	0.88520	0.0:0.0:1.0:0.0	.	949	Q09666	AHNK_HUMAN	H	949	ENSP00000367263:P949H	ENSP00000367263:P949H	P	-	2	0	AHNAK	62055619	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.298000	0.78815	2.358000	0.79984	0.455000	0.32223	CCT		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		179	1010	1	0	1.591e-50	1	1.97159e-50	179	1010					T	62299043	G	T	62299043	3	4	79	1	0	0	0	0	1	0	0	0	414	1000	35	3	14946	3	AHNAK	11	62299043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2983	62299043	72707473	12178	22495											
AHNAK	79026	broad.mit.edu	37	chr11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaacttggggcccttcAgctttccttcaggtccttca	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	929					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCCCTTCAGCTTTCCTTC	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2785-2787)cTg>cCg		AHNAK nucleoprotein							132	144	140					11																	62299103		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299103A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2786T>C	11.37:g.62299103A>G	ENSP00000367263:p.Leu929Pro					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L929P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3060	-		Melanoma(852;0.155)	929					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2786T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.945953	0.53079	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.78	4.78	0.61160	.	0.427685	0.20173	N	0.097700	T	0.07052	0.0179	M	0.89601	3.045	0.32021	N	0.600752	D	0.89917	1.0	D	0.91635	0.999	T	0.07385	-1.0775	10	0.33940	T	0.23	-6.898	14.2733	0.66164	1.0:0.0:0.0:0.0	.	929	Q09666	AHNK_HUMAN	P	929	ENSP00000367263:L929P	ENSP00000367263:L929P	L	-	2	0	AHNAK	62055679	0.042000	0.20092	0.955000	0.39395	0.913000	0.54294	3.328000	0.52052	1.910000	0.55303	0.374000	0.22700	CTG		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		181	982	0	0	0	1	0	181	982					G	62299103	A	G	62299103	3	3	79	1	0	0	0	0	1	0	0	0	414	188	7	4	15006	4	AHNAK	11	62299103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	62299103	72707413	12179	22496											
AHNAK	79026	broad.mit.edu	37	chr11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatgctcacatcaggaGcagtaacatctatcttgggc	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	789					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGAGCAGTAACATC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2365-2367)gCt>gTt		AHNAK nucleoprotein							139	144	142					11																	62299523		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299523G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2366C>T	11.37:g.62299523G>A	ENSP00000367263:p.Ala789Val					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.A789V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2640	-		Melanoma(852;0.155)	789					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2366C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	0.357	-0.941407	0.02322	.	.	ENSG00000124942	ENST00000378024	T	0.01015	5.44	5.46	0.183	0.15082	.	0.227351	0.25774	N	0.028383	T	0.00724	0.0024	N	0.16602	0.42	0.21950	N	0.999455	B	0.10296	0.003	B	0.19148	0.024	T	0.47812	-0.9088	10	0.30078	T	0.28	-5.7553	8.5539	0.33469	0.196:0.2085:0.5955:0.0	.	789	Q09666	AHNK_HUMAN	V	789	ENSP00000367263:A789V	ENSP00000367263:A789V	A	-	2	0	AHNAK	62056099	0.000000	0.05858	0.525000	0.27900	0.053000	0.15095	-1.663000	0.01968	-0.209000	0.10156	-1.360000	0.01215	GCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		176	820	0	0	0	1	0	176	820					A	62299523	G	A	62299523	3	1	79	1	0	0	0	0	1	0	0	0	414	971	34	2	15426	2	AHNAK	11	62299523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	62299523	72706993	12180	22497											
AHNAK	79026	broad.mit.edu	37	chr11	62301544	62301544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactcctcatcatccccGctctgcagaaagacacgccg	8	16	3	2	rs117532364	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCATCCCCGCTCTGCAGAA	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		14519	0.001		0.001	False		,,,				2504	0.0					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(343-345)agC>agT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	42	37	38		345,	4	1	11	dbSNP_132	38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	115/5891,	62301544	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301544G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.345C>T	11.37:g.62301544G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S115S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	619	-		Melanoma(852;0.155)	115					A1A586	Silent	SNP	ENST00000378024.4	37	c.345C>T	CCDS31584.1																																																																																				0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	161	0	0	0	1	0	30	161					A	62301544	G	A	62301544	2	1	79	1	0	0	0	0	0	0	0	1	414	1078	38	1		1	AHNAK	11	62301544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2021	62301544	72704972	12181	22498											
AHNAK	79026	broad.mit.edu	37	chr11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttgaccaccccagtgCgggccgcaggggagttctgc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H|RP11-864I4.3_ENST00000544108.1_RNA	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	45	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCCCAGTGCGGGCCGCAGG	0.682																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(133-135)cGc>cAc		AHNAK nucleoprotein							50	48	49					11																	62303437		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62303437C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.134G>A	11.37:g.62303437C>T	ENSP00000367263:p.Arg45His					AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H	p.R45H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			3	408	-		Melanoma(852;0.155)	45			PDZ.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.134G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076164	0.55646	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.50548	1.51;1.51;1.51;0.74;1.51;1.51;1.51	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.111128	0.36303	U	0.002664	T	0.25082	0.0609	N	0.03608	-0.345	0.25316	N	0.989154	P;P	0.47545	0.887;0.897	B;B	0.42422	0.179;0.387	T	0.10800	-1.0614	10	0.54805	T	0.06	-8.3012	8.3138	0.32088	0.0:0.8318:0.0:0.1682	.	45;45	Q09666;A1A586	AHNK_HUMAN;.	H	45	ENSP00000433789:R45H;ENSP00000257247:R45H;ENSP00000433635:R45H;ENSP00000367263:R45H;ENSP00000433286:R45H;ENSP00000435357:R45H;ENSP00000436845:R45H	ENSP00000257247:R45H	R	-	2	0	AHNAK	62060013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.672000	0.46850	2.512000	0.84698	0.655000	0.94253	CGC		0.682	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	303	0	0	0	1	0	15	303					T	62303437	C	T	62303437	3	4	79	1	0	0	0	0	1	0	0	0	414	768	27	1	17666	1	AHNAK	11	62303437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1893	62303437	72703079	12182	22499											
EEF1G	1937	broad.mit.edu	37	chr11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggcgaaggcattcttcCtcagcttgtccagtcgctgg	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000329251.4	-	9	1188	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	353	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1207-1209)aGg>aTg		eukaryotic translation elongation factor 1 gamma							49	47	48					11																	62327638		1952	4156	6108	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327638C>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1058G>T	11.37:g.62327638C>A	ENSP00000331901:p.Arg353Met					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R353M	p.R403M			P26641	EF1G_HUMAN			9	1298	-			353			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.1208G>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461627	0.84425	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.29142	1.62;1.58	4.67	4.67	0.58626	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95645	3.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.993	D;D;D	0.73708	0.981;0.961;0.979	T	0.77890	-0.2419	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	403;122;353	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	M	353;403;122	ENSP00000331901:R353M;ENSP00000367258:R403M	ENSP00000331901:R353M	R	-	2	0	EEF1G	62084214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.456000	0.83038	0.537000	0.68136	AGG		0.517	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		52	230	1	0	1.19451e-25	1	1.37202e-25	52	230					A	62327638	C	A	62327638	3	1	79	1	0	0	0	0	1	0	0	0	4944	681	24	3	263	3	EEF1G	11	62327638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24201	62327638	72678878	12183	22500											
EEF1G	1937	broad.mit.edu	37	chr11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagacagcccggaactgggGctggttaatgcaggtgagga	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000329251.4	-	6	722	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	198	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(742-744)Ccc>Acc		eukaryotic translation elongation factor 1 gamma							43	40	41					11																	62334931		1904	4117	6021	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62334931G>T	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.592C>A	11.37:g.62334931G>T	ENSP00000331901:p.Pro198Thr					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.P198T	p.P248T			P26641	EF1G_HUMAN			6	832	-			198					B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.742C>A	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719014	0.89205	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.34667	1.35;1.35	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.93898	3.47	0.80722	D	1	D;P	0.60575	0.988;0.868	D;P	0.65573	0.936;0.817	T	0.77629	-0.2516	10	0.66056	D	0.02	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	248;198	B4DTG2;P26641	.;EF1G_HUMAN	T	198;248	ENSP00000331901:P198T;ENSP00000367258:P248T	ENSP00000331901:P198T	P	-	1	0	EEF1G	62091507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCC		0.537	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		20	71	1	0	2.39187e-15	1	2.61288e-15	20	71					T	62334931	G	T	62334931	3	4	79	1	0	0	0	0	1	0	0	0	4944	1203	42	3	741	3	EEF1G	11	62334931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7293	62334931	72671585	12184	22501											
TUT1	64852	broad.mit.edu	37	chr11	62343093	62343093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatggcccagtcctgcaCcatctctccaacctctataa	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62343093C>T	ENST00000476907.1	-	9	2789	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	TUT1_ENST00000308436.7_Missense_Mutation_p.V738M|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	700					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGTCCTGCACCATCTCTCCA	0.617																																						ENST00000476907.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2098-2100)Gtg>Atg		terminal uridylyl transferase 1, U6 snRNA-specific							299	282	288					11																	62343093		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343093C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2098G>A	11.37:g.62343093C>T	ENSP00000419607:p.Val700Met					MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.V738M	p.V700M			Q9H6E5	STPAP_HUMAN			9	2789	-			700					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.2098G>A		.	.	.	.	.	.	.	.	.	.	C	0.390	-0.923826	0.02377	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.36699	1.24;1.26	5.51	-0.811	0.10857	.	1.531760	0.03707	N	0.249627	T	0.20780	0.0500	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.004;0.006	T	0.11299	-1.0593	10	0.20519	T	0.43	1.9335	2.4238	0.04455	0.2349:0.4335:0.1942:0.1374	.	700;738	Q9H6E5;F5H0R1	STPAP_HUMAN;.	M	738;700	ENSP00000308000:V738M;ENSP00000419607:V700M	ENSP00000308000:V738M	V	-	1	0	TUT1	62099669	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.646000	0.05403	-0.026000	0.13895	-0.152000	0.13540	GTG		0.617	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		38	2193	0	0	0	1	0	38	2193					T	62343093	C	T	62343093	3	4	79	1	0	0	0	0	1	0	0	0	16834	507	18	2	530	2	TUT1	11	62343093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	62343093	72663423	12185	22502											
TUT1	64852	broad.mit.edu	37	chr11	62346472	62346472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccagggccgagtccaGcgatggagattctggagcct	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62346472G>A	ENST00000476907.1	-	5	1412	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	TUT1_ENST00000308436.7_Silent_p.L279L|MIR3654_ENST00000496634.2_Silent_p.L241L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	241	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCGAGTCCAGCGATGGAGAT	0.542																																						ENST00000496634.2																			0				NS(1)	1						c.(721-723)Ctg>Ttg									30	36	34					11																	62346472		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr11:62346472G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.721C>T	11.37:g.62346472G>A						TUT1_ENST00000476907.1_Silent_p.L241L|TUT1_ENST00000308436.7_Silent_p.L279L	p.L241L							5	766	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.721C>T																																																																																					0.542	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		31	158	0	0	0	1	0	31	158					A	62346472	G	A	62346472	2	1	79	1	0	0	0	0	0	0	0	1	16834	962	34	2		2	TUT1	11	62346472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3379	62346472	72660044	12186	22503											
EML3	256364	broad.mit.edu	37	chr11	62373565	62373565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggccaccaacccgggCccccactgtaccagccggcg	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000531557.1_Silent_p.G325G|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Silent_p.G543G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	542						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1624-1626)ggG>ggA		echinoderm microtubule associated protein like 3							50	68	62					11																	62373565		2202	4297	6499	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62373565C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1626G>A	11.37:g.62373565C>T						EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000278845.4_Silent_p.G543G|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.G325G	p.G542G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			13	1933	-			542					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1626G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054592	0.19907	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	3.26	0.37387	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	-19.5332	6.4573	0.21936	0.0:0.7179:0.1841:0.098	.	.	.	.	T	537	.	.	A	-	1	0	EML3	62130141	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	0.880000	0.28159	1.208000	0.43306	0.467000	0.42956	GCC		0.637	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		175	982	0	0	0	1	0	175	982					T	62373565	C	T	62373565	2	4	79	1	0	0	0	0	0	0	0	1	5116	726	26	2		2	EML3	11	62373565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27093	62373565	72632951	12187	22504											
EML3	256364	broad.mit.edu	37	chr11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccactgtaccagccggCggtcccgcccgccaccactc	9	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000531557.1_Missense_Mutation_p.R319H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.R537H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1606-1608)cGc>cAc		echinoderm microtubule associated protein like 3							44	57	52					11																	62373584		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62373584C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1607G>A	11.37:g.62373584C>T	ENSP00000378254:p.Arg536His					EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319H	p.R536H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			13	1914	-			536					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1607G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463749	0.84425	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.31247	1.55;1.5;1.53;1.53;1.53	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.86028	2.79	0.58432	D	0.999998	D;P;D;D;D	0.89917	0.97;0.949;0.973;1.0;1.0	P;B;P;D;D	0.87578	0.637;0.312;0.55;0.991;0.998	T	0.66881	-0.5811	10	0.66056	D	0.02	-26.1227	16.3399	0.83079	0.0:1.0:0.0:0.0	.	536;536;319;537;508	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	H	536;537;319;508;536	ENSP00000378254:R536H;ENSP00000278845:R537H;ENSP00000433417:R319H;ENSP00000435064:R508H;ENSP00000434513:R536H	ENSP00000278845:R537H	R	-	2	0	EML3	62130160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.086000	0.76885	2.450000	0.82876	0.467000	0.42956	CGC		0.642	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		167	772	0	0	0	1	0	167	772					T	62373584	C	T	62373584	3	4	79	1	0	0	0	0	1	0	0	0	5116	768	27	1	1123	1	EML3	11	62373584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	62373584	72632932	12188	22505											
EML3	256364	broad.mit.edu	37	chr11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccttatccactccagCtgtctgtcccgaggctaccc	6	18	1	0	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000531557.1_Missense_Mutation_p.A109T|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.A327T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	326						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(976-978)Gct>Act		echinoderm microtubule associated protein like 3		C	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	157	140	145		976	5.6	1	11	dbSNP_134	145	0,8598		0,0,4299	no	missense	EML3	NM_153265.2	58	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	326/897	62376231	1,13001	2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62376231C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.976G>A	11.37:g.62376231C>T	ENSP00000378254:p.Ala326Thr					EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000278845.4_Missense_Mutation_p.A327T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000531557.1_Missense_Mutation_p.A109T	p.A326T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			8	1283	-			326					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.976G>A	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.586654|4.586654	0.86851|0.86851	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.33438|.	1.5;1.46;1.41;1.47;1.41|.	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.936;0.997;0.997|.	D;D;P;D;D|.	0.91635|.	0.999;0.999;0.535;0.989;0.942|.	T|T	0.72377|0.72377	-0.4312|-0.4312	10|5	0.66056|.	D|.	0.02|.	-7.5773|-7.5773	17.0083|17.0083	0.86399|0.86399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;326;109;327;298|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	T|N	326;327;109;298;326|320	ENSP00000378254:A326T;ENSP00000278845:A327T;ENSP00000433417:A109T;ENSP00000435064:A298T;ENSP00000434513:A326T|.	ENSP00000278845:A327T|.	A|S	-|-	1|2	0|0	EML3|EML3	62132807|62132807	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.571000|0.571000	0.35966|0.35966	5.539000|5.539000	0.67199|0.67199	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.527	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		82	427	0	0	0	1	0	82	427					T	62376231	C	T	62376231	3	4	79	1	0	0	0	0	1	0	0	0	5116	797	28	2	1774	2	EML3	11	62376231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2647	62376231	72630285	12189	22506											
B3GAT3	26229	broad.mit.edu	37	chr11	62384603	62384603	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggccttgttccgctgctcGacaccacggggatgaaccca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000265471.5	-	3	701	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000534026.1_Silent_p.V158V|B3GAT3_ENST00000531383.1_Silent_p.V158V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(472-474)gtC>gtT		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							46	49	48					11																	62384603		2202	4299	6501	SO:0001819	synonymous_variant	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384603G>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.474C>T	11.37:g.62384603G>A						B3GAT3_ENST00000265471.5_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V	p.V158V			O94766	B3GA3_HUMAN			3	680	-			158					B7ZAB3|Q96I06|Q9UEP0	Silent	SNP	ENST00000265471.5	37	c.474C>T	CCDS8025.1																																																																																				0.672	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		61	322	0	0	0	1	0	61	322					A	62384603	G	A	62384603	2	1	79	1	0	0	0	0	0	0	0	1	1256	1045	37	1		1	B3GAT3	11	62384603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8372	62384603	72621913	12190	22507											
B3GAT3	26229	broad.mit.edu	37	chr11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggggtggccgtcggaGttccgcttgcagctgggaaa	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000265471.5	-	2	399	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F|B3GAT3_ENST00000531383.1_Missense_Mutation_p.L58F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	58					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(172-174)Ctc>Ttc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							23	29	27					11																	62388054		2202	4295	6497	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62388054G>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.172C>T	11.37:g.62388054G>A	ENSP00000265471:p.Leu58Phe					B3GAT3_ENST00000265471.5_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F	p.L58F			O94766	B3GA3_HUMAN			2	378	-			58					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.172C>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499735	0.85176	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66815	-0.2;-0.21;-0.23;0.77	5.53	5.53	0.82687	.	0.070269	0.64402	D	0.000016	T	0.75722	0.3888	L	0.58101	1.795	0.48288	D	0.999622	D;D;P	0.71674	0.998;0.998;0.949	D;D;P	0.78314	0.991;0.991;0.601	T	0.69658	-0.5086	10	0.09084	T	0.74	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	58;64;58	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	F	58;58;58;81	ENSP00000265471:L58F;ENSP00000431359:L58F;ENSP00000432474:L58F;ENSP00000432854:L81F	ENSP00000265471:L58F	L	-	1	0	B3GAT3	62144630	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	3.026000	0.49689	2.599000	0.87857	0.655000	0.94253	CTC		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		29	80	0	0	0	1	0	29	80					A	62388054	G	A	62388054	3	1	79	1	0	0	0	0	1	0	0	0	1256	1029	36	2	851	2	B3GAT3	11	62388054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3451	62388054	72618462	12191	22508											
GANAB	23193	broad.mit.edu	37	chr11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtcatgctggaaggAcaggcggctttctggagatc	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000356638.3	-	24	2762	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000346178.4_Missense_Mutation_p.S938P|GANAB_ENST00000534779.1_Missense_Mutation_p.S824P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	916					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCTGGAAGGACAGGCGGCTT	0.512																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2812-2814)Tcc>Ccc		glucosidase, alpha; neutral AB							94	90	91					11																	62393376		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393376A>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2746T>C	11.37:g.62393376A>G	ENSP00000349053:p.Ser916Pro					GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000356638.3_Missense_Mutation_p.S916P|GANAB_ENST00000534779.1_Missense_Mutation_p.S824P	p.S938P	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			25	2827	-			916					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2812T>C	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746685	0.30955	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88896	-2.38;-2.33;-2.44;-2.38	4.84	0.998	0.19857	.	0.571109	0.17907	N	0.157987	T	0.77705	0.4170	N	0.16790	0.44	0.29699	N	0.84028	B;B;B;B	0.23249	0.082;0.082;0.0;0.0	B;B;B;B	0.27262	0.078;0.078;0.002;0.001	T	0.70185	-0.4941	10	0.48119	T	0.1	-5.0023	6.0398	0.19728	0.3491:0.489:0.0:0.162	.	802;824;916;938	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	938;916;824;819	ENSP00000340466:S938P;ENSP00000349053:S916P;ENSP00000435306:S824P;ENSP00000442962:S819P	ENSP00000340466:S938P	S	-	1	0	GANAB	62149952	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.455000	0.35190	0.693000	0.31634	0.459000	0.35465	TCC		0.512	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		36	251	0	0	0	1	0	36	251					G	62393376	A	G	62393376	3	3	79	1	0	0	0	0	1	0	0	0	6261	275	10	4	92	4	GANAB	11	62393376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5322	62393376	72613140	12192	22509											
GANAB	23193	broad.mit.edu	37	chr11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcccctcaccatacggCttgctgtcagagtgagtttt	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000356638.3	-	7	727	c.711G>T	c.(709-711)aaG>aaT	p.K237N	GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	237					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CACCATACGGCTTGCTGTCAG	0.537																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(775-777)aaG>aaT		glucosidase, alpha; neutral AB							118	119	119					11																	62400663		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400663C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.711G>T	11.37:g.62400663C>A	ENSP00000349053:p.Lys237Asn					GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000356638.3_Missense_Mutation_p.K237N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR	p.K259N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			8	792	-			237					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.777G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364145	0.41902	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90261	-2.62;-2.61;-1.95;-2.64	5.14	4.23	0.50019	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.998;0.982;0.938	D;D;P;P	0.75484	0.986;0.986;0.82;0.878	D	0.94050	0.7317	10	0.87932	D	0	-28.5445	10.6238	0.45495	0.0:0.834:0.0:0.166	.	123;145;237;259	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	259;237;145;140	ENSP00000340466:K259N;ENSP00000349053:K237N;ENSP00000435306:K145N;ENSP00000442962:K140N	ENSP00000340466:K259N	K	-	3	2	GANAB	62157239	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	0.990000	0.29642	0.763000	0.33175	-1.151000	0.01829	AAG		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		125	475	1	0	2.82925e-58	1	3.54705e-58	125	475					A	62400663	C	A	62400663	3	1	79	1	0	0	0	0	1	0	0	0	6261	796	28	3	2195	3	GANAB	11	62400663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7287	62400663	72605853	12193	22510											
INTS5	80789	broad.mit.edu	37	chr11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaacatggtttttgagcGcatctaaaaagggcaccaag	9	10	1	1	rs371125173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	476					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1426-1428)gCg>gTg		integrator complex subunit 5		G	VAL/ALA	0,4404		0,0,2202	74	77	76		1427	4	0.9	11		76	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS5	NM_030628.1	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	476/1020	62416125	1,13001	2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416125G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1427C>T	11.37:g.62416125G>A	ENSP00000327889:p.Ala476Val						p.A476V	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1479	-			476					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1427C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551340	0.27739	0.0	1.16E-4	ENSG00000185085	ENST00000330574	.	.	.	4.87	3.96	0.45880	.	0.059338	0.64402	D	0.000003	T	0.34513	0.0900	N	0.14661	0.345	0.34055	D	0.65659	B	0.15141	0.012	B	0.06405	0.002	T	0.43621	-0.9380	9	0.54805	T	0.06	.	10.9735	0.47452	0.0909:0.0:0.9091:0.0	.	476	Q6P9B9	INT5_HUMAN	V	476	.	ENSP00000327889:A476V	A	-	2	0	INTS5	62172701	1.000000	0.71417	0.859000	0.33776	0.547000	0.35210	3.528000	0.53524	1.287000	0.44583	-0.140000	0.14226	GCG		0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		143	641	0	0	0	1	0	143	641					A	62416125	G	A	62416125	3	1	79	1	0	0	0	0	1	0	0	0	7811	1087	38	1	1636	1	INTS5	11	62416125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15462	62416125	72590391	12194	22511											
INTS5	80789	broad.mit.edu	37	chr11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagcagttcattaagagCgccagtagcgtggggaacac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(514-516)Gct>Act		integrator complex subunit 5							88	84	85					11																	62417038		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417038C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.514G>A	11.37:g.62417038C>T	ENSP00000327889:p.Ala172Thr						p.A172T	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	566	-			172					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.514G>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355687	0.41700	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	3.53	0.40419	.	0.190185	0.42294	D	0.000735	T	0.22044	0.0531	N	0.08118	0	0.30478	N	0.772596	B	0.09022	0.002	B	0.01281	0.0	T	0.11916	-1.0568	9	0.62326	D	0.03	.	8.3625	0.32367	0.7958:0.2042:0.0:0.0	.	172	Q6P9B9	INT5_HUMAN	T	172	.	ENSP00000327889:A172T	A	-	1	0	INTS5	62173614	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.979000	0.49313	0.826000	0.34661	-0.275000	0.10095	GCT		0.567	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		50	226	0	0	0	1	0	50	226					T	62417038	C	T	62417038	3	4	79	1	0	0	0	0	1	0	0	0	7811	768	27	1	2549	1	INTS5	11	62417038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	62417038	72589478	12195	22512											
INTS5	80789	broad.mit.edu	37	chr11	62417472	62417472	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggacagctcctgagcaCtacaaggaagcaaaagaaac	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417472C>A	ENST00000330574.2	-	2	133		c.e2-1		RP11-831H9.11_ENST00000528405.1_Splice_Site	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5						snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCTGAGCACTACAAGGAAG	0.463																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.e2-1		integrator complex subunit 5							43	46	45					11																	62417472		2202	4298	6500	SO:0001630	splice_region_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417472C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.81-1G>T	11.37:g.62417472C>A						RP11-831H9.11_ENST00000528405.1_Splice_Site		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	133	-								Q8N6W5|Q9C0G5	Splice_Site	SNP	ENST00000330574.2	37		CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634124	0.67130	.	.	ENSG00000185085;ENSG00000255432	ENST00000330574;ENST00000528405	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.158	0.81680	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS5;RP11-831H9.11	62174048	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.305000	0.78891	2.403000	0.81681	0.561000	0.74099	.		0.463	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	Intron	45	175	1	0	6.48837e-15	1	7.06796e-15	45	175					A	62417472	C	A	62417472	5	1	79	1	0	0	0	0	0	0	1	0	7811	579	20	3	2983	3	INTS5	11	62417472	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	434	62417472	72589044	12196	22513											
UBXN1	51035	broad.mit.edu	37	chr11	62444433	62444433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgccagctgttcccgGgcccggaacgtctgggtcag	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000301935.5	-	8	862	c.696C>T	c.(694-696)gcC>gcT	p.A232A	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.A232A|UBXN1_ENST00000529640.1_Silent_p.A228A			Q04323	UBXN1_HUMAN	UBX domain protein 1	232	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GCTGTTCCCGGGCCCGGAACG	0.597																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(694-696)gcC>gcT		UBX domain protein 1							59	62	61					11																	62444433		2202	4299	6501	SO:0001819	synonymous_variant	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444433G>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.696C>T	11.37:g.62444433G>A						UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Silent_p.A232A	p.A232A	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			8	827	-			232			Interaction with BRCA1.|UBX.		Q9BV93|Q9BVV5	Silent	SNP	ENST00000301935.5	37	c.696C>T																																																																																					0.597	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		51	493	0	0	0	1	0	51	493					A	62444433	G	A	62444433	2	1	79	1	0	0	0	0	0	0	0	1	16965	1219	43	2		2	UBXN1	11	62444433	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26961	62444433	72562083	12197	22514											
BSCL2	26580	broad.mit.edu	37	chr11	62472966	62472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacagtaaggcaggtaCtggagggtcgttgaccatgg	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62472966C>T	ENST00000403550.1	-	2	442	c.19G>A	c.(19-21)Gta>Ata	p.V7I	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000433053.1_Missense_Mutation_p.V71I|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	7					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGCAGGTACTGGAGGGTCG	0.657																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(211-213)Gta>Ata		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							50	48	49					11																	62472966		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62472966C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.19G>A	11.37:g.62472966C>T	ENSP00000385561:p.Val7Ile					BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I|BSCL2_ENST00000403550.1_Missense_Mutation_p.V7I|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I	p.V71I			Q96G97	BSCL2_HUMAN			3	767	-			7					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.211G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111980	0.56398	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818;ENST00000464544	D;D;D;D;D;D;D;D;D;D	0.90069	-2.57;-2.56;-2.61;-2.56;-2.56;-2.56;-2.56;-2.46;-1.78;-1.69	5.05	3.07	0.35406	.	0.205171	0.30771	U	0.008904	T	0.79375	0.4435	N	0.24115	0.695	0.25326	N	0.989077	B;B;B;B	0.26809	0.16;0.049;0.054;0.02	B;B;B;B	0.21708	0.036;0.023;0.026;0.01	T	0.70745	-0.4788	10	0.72032	D	0.01	-13.0931	7.9172	0.29825	0.1834:0.6397:0.1769:0.0	.	7;7;71;7	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	I	71;71;7;71;7;7;7;7;71;7;71;71	ENSP00000385332:V71I;ENSP00000414002:V71I;ENSP00000278893:V7I;ENSP00000354032:V71I;ENSP00000385561:V7I;ENSP00000384080:V7I;ENSP00000413209:V7I;ENSP00000413340:V7I;ENSP00000433888:V71I;ENSP00000434149:V7I	ENSP00000278893:V7I	V	-	1	0	BSCL2	62229542	0.966000	0.33281	0.869000	0.34112	0.925000	0.55904	1.004000	0.29822	0.647000	0.30713	0.462000	0.41574	GTA		0.657	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		38	133	0	0	0	1	0	38	133					T	62472966	C	T	62472966	3	4	79	1	0	0	0	0	1	0	0	0	1531	565	20	2	1217	2	BSCL2	11	62472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28533	62472966	72533550	12198	22515											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62482812	62482812	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaattcctgtagtatcGgtctctgtcctgggggtggt	14	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	735	Tyr-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2203-2205)Cga>Aga		heterogeneous nuclear ribonucleoprotein U-like 2							143	147	145					11																	62482812		1959	4127	6086	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62482812G>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.2203C>A	11.37:g.62482812G>T						RP11-831H9.16_ENST00000403734.2_Intron	p.R735R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			14	2395	-			735			Tyr-rich.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.2203C>A	CCDS41659.1																																																																																				0.552	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		96	411	1	0	1.19196e-48	1	1.47188e-48	96	411					T	62482812	G	T	62482812	2	4	79	1	0	0	0	0	0	0	0	1	7305	1124	39	3		3	HNRNPUL2	11	62482812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9846	62482812	72523704	12199	22516											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagagtttgatcctcctcCtcatcttttgcctcttcttc	4	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	239	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(715-717)gaG>gaT		heterogeneous nuclear ribonucleoprotein U-like 2							193	184	187					11																	62491420		1956	4148	6104	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62491420C>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.717G>T	11.37:g.62491420C>A	ENSP00000301785:p.Glu239Asp					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E239D	p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			3	909	-			239			B30.2/SPRY.|Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.717G>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621621	0.28889	.	.	ENSG00000214753	ENST00000301785	T	0.73047	-0.71	5.3	2.25	0.28309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.218960	0.41396	D	0.000883	T	0.43809	0.1264	N	0.13198	0.31	0.30227	N	0.796265	P	0.38504	0.634	B	0.35510	0.204	T	0.37979	-0.9682	10	0.18276	T	0.48	-18.6698	4.4206	0.11479	0.0:0.5427:0.1645:0.2928	.	239	Q1KMD3	HNRL2_HUMAN	D	239	ENSP00000301785:E239D	ENSP00000301785:E239D	E	-	3	2	HNRNPUL2	62247996	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.743000	0.32719	0.655000	0.94253	GAG		0.393	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		25	626	1	0	1.74197e-06	1	1.79736e-06	25	626					A	62491420	C	A	62491420	3	1	79	1	0	0	0	0	1	0	0	0	7305	680	24	3	1574	3	HNRNPUL2	11	62491420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8608	62491420	72515096	12200	22517											
TAF6L	10629	broad.mit.edu	37	chr11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcaaagggaacctgGcacctcaaggatcgggtaag	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	141					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGGGAACCTGGCACCTCAAGG	0.542																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(421-423)Gca>Aca		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							141	119	127					11																	62545792		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62545792G>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.421G>A	11.37:g.62545792G>A	ENSP00000294168:p.Ala141Thr					TMEM223_ENST00000527073.1_Intron	p.A141T	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			5	622	+			141					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.421G>A	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362314	0.61403	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44083	0.93;0.97	4.94	4.94	0.65067	.	0.063502	0.64402	D	0.000013	T	0.23094	0.0558	N	0.08118	0	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.15870	0.01;0.014	T	0.08289	-1.0729	10	0.15499	T	0.54	-1.7793	15.6975	0.77512	0.0:0.0:1.0:0.0	.	141;141	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	141	ENSP00000294168:A141T;ENSP00000434662:A141T	ENSP00000294168:A141T	A	+	1	0	TAF6L	62302368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.559000	0.90708	2.570000	0.86706	0.462000	0.41574	GCA		0.542	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		33	199	0	0	0	1	0	33	199					A	62545792	G	A	62545792	3	1	79	1	0	0	0	0	1	0	0	0	15583	1203	42	2	435	2	TAF6L	11	62545792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54372	62545792	72460724	12201	22518											
TAF6L	10629	broad.mit.edu	37	chr11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcacctgtgcttggggCcctatgtccgctgtctggtg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	233					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(697-699)Ccc>Tcc		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							95	91	92					11																	62549675		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549675C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.697C>T	11.37:g.62549675C>T	ENSP00000294168:p.Pro233Ser					TMEM223_ENST00000527073.1_Intron	p.P233S	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	898	+			233					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.697C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087988	0.36855	.	.	ENSG00000162227	ENST00000294168	T	0.68331	-0.32	5.4	5.4	0.78164	.	0.140716	0.49916	D	0.000139	T	0.49795	0.1578	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.43147	-0.9409	10	0.30078	T	0.28	-26.0172	9.9712	0.41754	0.0:0.9109:0.0:0.0891	.	233	Q9Y6J9	TAF6L_HUMAN	S	233	ENSP00000294168:P233S	ENSP00000294168:P233S	P	+	1	0	TAF6L	62306251	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.654000	0.54453	2.813000	0.96785	0.561000	0.74099	CCC		0.597	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		101	462	0	0	0	1	0	101	462					T	62549675	C	T	62549675	3	4	79	1	0	0	0	0	1	0	0	0	15583	739	26	2	723	2	TAF6L	11	62549675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3883	62549675	72456841	12202	22519											
TAF6L	10629	broad.mit.edu	37	chr11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgaccactggactctgCgggatggggctgccctcctg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	264					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(790-792)Cgg>Tgg		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							66	70	68					11																	62549768		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549768C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.790C>T	11.37:g.62549768C>T	ENSP00000294168:p.Arg264Trp					TMEM223_ENST00000527073.1_Intron	p.R264W	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	991	+			264					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.790C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945740	0.73672	.	.	ENSG00000162227	ENST00000294168	T	0.72505	-0.66	5.4	2.4	0.29515	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.87932	D	0	-13.2784	12.6043	0.56514	0.4334:0.5666:0.0:0.0	.	264	Q9Y6J9	TAF6L_HUMAN	W	264	ENSP00000294168:R264W	ENSP00000294168:R264W	R	+	1	2	TAF6L	62306344	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.261000	0.32980	0.352000	0.24053	0.561000	0.74099	CGG		0.617	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		113	483	0	0	0	1	0	113	483					T	62549768	C	T	62549768	3	4	79	1	0	0	0	0	1	0	0	0	15583	759	27	1	816	1	TAF6L	11	62549768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	62549768	72456748	12203	22520											
TMEM179B	374395	broad.mit.edu	37	chr11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctctcgttgggtcacGcctttcccattcctgaagaa	9	12	2	3	rs541728237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(643-645)cGc>cAc		transmembrane protein 179B							72	66	68					11																	62557503		2201	4299	6500	SO:0001583	missense	374395					integral to membrane		g.chr11:62557503G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.644G>A	11.37:g.62557503G>A	ENSP00000333697:p.Arg215His					TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	p.R215H	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	649	+			215						Missense_Mutation	SNP	ENST00000333449.4	37	c.644G>A	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	TMEM179B	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC		0.582	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		67	232	0	0	0	1	0	67	232					A	62557503	G	A	62557503	3	1	79	1	0	0	0	0	1	0	0	0	16149	1087	38	1	662	1	TMEM179B	11	62557503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7735	62557503	72449013	12204	22521											
WDR74	54663	broad.mit.edu	37	chr11	62601979	62601979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggccggcgctggggggaTgctggatcataaacacggac	16	10	1	0	rs568454869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62601979T>C	ENST00000525239.1	-	8	1176	c.639A>G	c.(637-639)gcA>gcG	p.A213A	WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000278856.4_Silent_p.A213A|WDR74_ENST00000311713.7_Silent_p.A213A|STX5_ENST00000394690.1_5'Flank|WDR74_ENST00000529106.1_Silent_p.A213A|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000525752.1_Silent_p.A156A|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	213					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GCTGGGGGGATGCTGGATCAT	0.577																																						ENST00000525239.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(637-639)gcA>gcG		WD repeat domain 74							42	47	45					11																	62601979		2037	4193	6230	SO:0001819	synonymous_variant	54663					nucleolus		g.chr11:62601979T>C		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.639A>G	11.37:g.62601979T>C						WDR74_ENST00000311713.7_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|WDR74_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000278856.4_Silent_p.A213A	p.A213A			Q6RFH5	WDR74_HUMAN			8	1176	-			213					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	37	c.639A>G	CCDS44630.1																																																																																				0.577	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		8	216	0	0	0	1	0	8	216					C	62601979	T	C	62601979	2	2	79	1	0	0	0	0	0	0	0	1	17378	1451	51	4		4	WDR74	11	62601979	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44476	62601979	72404537	12205	22522											
SLC22A6	9356	broad.mit.edu	37	chr11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggcgtagggccctgtgaGagcacacaaggtcccactgt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	129					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCCCTGTGAGAGCACACAAG	0.622																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(385-387)tCt>tTt		solute carrier family 22 (organic anion transporter), member 6							44	41	42					11																	62751503		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751503G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.386C>T	11.37:g.62751503G>A	ENSP00000367102:p.Ser129Phe					SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F	p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			2	652	-			129					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.386C>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476899	0.63849	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.52	2.18	0.27775	Major facilitator superfamily domain (1);	0.328214	0.31531	N	0.007482	D	0.85965	0.5820	M	0.79805	2.47	0.24323	N	0.995039	D;D;D;D	0.57571	0.96;0.98;0.967;0.98	P;P;P;P	0.62491	0.844;0.844;0.903;0.844	T	0.75442	-0.3316	9	.	.	.	.	7.2314	0.26045	0.0:0.222:0.365:0.413	.	129;129;129;129	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	129;108;129;129;129	ENSP00000353597:S129F;ENSP00000367102:S129F;ENSP00000396401:S129F;ENSP00000404441:S129F	.	S	-	2	0	SLC22A6	62508079	0.000000	0.05858	0.838000	0.33150	0.996000	0.88848	0.252000	0.18278	1.264000	0.44198	0.650000	0.86243	TCT		0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		16	109	0	0	0	1	0	16	109					A	62751503	G	A	62751503	3	1	79	1	0	0	0	0	1	0	0	0	14508	942	33	2	1341	2	SLC22A6	11	62751503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149524	62751503	72255013	12206	22523											
SLC22A8	9376	broad.mit.edu	37	chr11	62760994	62760994	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagggcggtgatcccgtaGatgatattggggatgaaggg	19	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	477					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGATCCCGTAGATGATATTGG	0.582																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1429-1431)atC>atA		solute carrier family 22 (organic anion transporter), member 8							99	95	96					11																	62760994		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760994G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1431C>A	11.37:g.62760994G>T						SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000545207.1_Silent_p.I386I	p.I477I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			10	1566	-			477					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.1431C>A	CCDS8042.1																																																																																				0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		96	408	1	0	4.69036e-40	1	5.68068e-40	96	408					T	62760994	G	T	62760994	2	4	79	1	0	0	0	0	0	0	0	1	14510	932	33	3		3	SLC22A8	11	62760994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9491	62760994	72245522	12207	22524											
HRASLS5	117245	broad.mit.edu	37	chr11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttacccttgctggatgcttCtgccctgttctaatgtgccc	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000301790.4	-	2	413	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K|HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	85							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(223-225)aGa>aAa		HRAS-like suppressor family, member 5							198	224	215					11																	63257730		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257730C>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.254G>A	11.37:g.63257730C>T	ENSP00000301790:p.Arg85Lys					HRASLS5_ENST00000301790.4_Missense_Mutation_p.R85K|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K	p.R75K	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	356	-			85					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.224G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785824	0.31593	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28666	1.6;2.1;1.61	3.75	-1.76	0.08006	.	5.966510	0.00357	N	0.000021	T	0.22551	0.0544	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33103	0.397;0.017;0.231	B;B;B	0.34722	0.188;0.005;0.058	T	0.15263	-1.0443	10	0.66056	D	0.02	-24.3145	0.7116	0.00925	0.1686:0.3593:0.1649:0.3072	.	85;75;85	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	K	75;85;85	ENSP00000444809:R75K;ENSP00000443873:R85K;ENSP00000301790:R85K	ENSP00000301790:R85K	R	-	2	0	HRASLS5	63014306	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.857000	0.04286	-0.330000	0.08514	-0.140000	0.14226	AGA		0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		346	1492	0	0	0	1	0	346	1492					T	63257730	C	T	63257730	3	4	79	1	0	0	0	0	1	0	0	0	7381	913	32	2	605	2	HRASLS5	11	63257730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496736	63257730	71748786	12208	22525											
LGALS12	85329	broad.mit.edu	37	chr11	63283034	63283034	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcctgcttcctgcaGttttactgtgagcctgaggg	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000394618.3	+	8	1004		c.e8-1		LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTTCCTGCAGTTTTACTGTG	0.622																																						ENST00000415491.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						c.e7-1		lectin, galactoside-binding, soluble, 12							65	61	62					11																	63283034		2201	4298	6499	SO:0001630	splice_region_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63283034G>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.714-1G>A	11.37:g.63283034G>A						LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000394618.3_Splice_Site		NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN			7	1144	+								B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Splice_Site	SNP	ENST00000394618.3	37		CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648764	0.67358	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63039610	1.000000	0.71417	0.660000	0.29694	0.425000	0.31504	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	.		0.622	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	Intron	38	335	0	0	0	1	0	38	335					A	63283034	G	A	63283034	5	1	79	1	0	0	0	0	0	0	1	0	8770	1043	36	2	746	2	LGALS12	11	63283034	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25304	63283034	71723482	12209	22526											
RARRES3	5920	broad.mit.edu	37	chr11	63307000	63307000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagccacaccaagagCccaaacctggagacctgatt	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307000C>T	ENST00000255688.3	+	2	70	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RARRES3_ENST00000439013.2_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	8					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACACCAAGAGCCCAAACCTGG	0.552																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(22-24)Ccc>Tcc		retinoic acid receptor responder (tazarotene induced) 3							109	115	113					11																	63307000		2196	4298	6494	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63307000C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.22C>T	11.37:g.63307000C>T	ENSP00000255688:p.Pro8Ser					RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000255688.3_Missense_Mutation_p.P8S|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	p.P8S			Q9UL19	TIG3_HUMAN			2	75	+			8					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.22C>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674977	0.47781	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21932	1.98;1.98;1.98	4.35	3.43	0.39272	.	0.159898	0.40302	N	0.001137	T	0.49321	0.1550	M	0.88704	2.975	0.09310	N	1	D	0.54772	0.968	D	0.68943	0.961	T	0.45833	-0.9234	10	0.87932	D	0	.	11.7062	0.51599	0.178:0.822:0.0:0.0	.	8	Q9UL19	TIG3_HUMAN	S	8	ENSP00000402943:P8S;ENSP00000255688:P8S;ENSP00000346431:P8S	ENSP00000255688:P8S	P	+	1	0	RARRES3	63063576	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.464000	0.35288	1.181000	0.42912	0.563000	0.77884	CCC		0.552	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			10	373	0	0	0	1	0	10	373					T	63307000	C	T	63307000	3	4	79	1	0	0	0	0	1	0	0	0	13107	739	26	2	28	2	RARRES3	11	63307000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23966	63307000	71699516	12210	22527											
RARRES3	5920	broad.mit.edu	37	chr11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagatggctacgtgatcCatctggctcctccaagtaag	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000255688.3	+	2	151	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000439013.2_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(103-105)Cat>Aat		retinoic acid receptor responder (tazarotene induced) 3							105	109	108					11																	63307081		2194	4297	6491	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63307081C>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.103C>A	11.37:g.63307081C>A	ENSP00000255688:p.His35Asn					RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000255688.3_Missense_Mutation_p.H35N|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	p.H35N			Q9UL19	TIG3_HUMAN			2	156	+			35					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.103C>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084429	0.55861	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.43294	0.95;0.95;0.95	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.60843	0.2300	M	0.74546	2.27	0.27514	N	0.951613	D	0.76494	0.999	D	0.97110	1.0	T	0.54794	-0.8240	10	0.56958	D	0.05	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	N	35	ENSP00000402943:H35N;ENSP00000255688:H35N;ENSP00000346431:H35N	ENSP00000255688:H35N	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT		0.473	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			85	320	1	0	1.52589e-26	1	1.75947e-26	85	320					A	63307081	C	A	63307081	3	1	79	1	0	0	0	0	1	0	0	0	13107	594	21	3	109	3	RARRES3	11	63307081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	63307081	71699435	12211	22528											
RARRES3	5920	broad.mit.edu	37	chr11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaggtgaaacgggagCgcctggaagatgtggtggga	20	5	0	3	rs374580366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000255688.3	+	3	238	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(190-192)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 3		C	CYS/ARG	0,3984		0,0,1992	96	107	103		190	0.2	0	11		103	1,8339		0,1,4169	no	missense	RARRES3	NM_004585.3	180	0,1,6161	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	64/165	63312164	1,12323	1992	4170	6162	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312164C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.190C>T	11.37:g.63312164C>T	ENSP00000255688:p.Arg64Cys					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.R64C|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	p.R64C			Q9UL19	TIG3_HUMAN			3	243	+			64					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.190C>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869850	0.51588	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21543	2.0;2.0;2.0	4.29	0.21	0.15231	NC (1);	1.229820	0.05716	N	0.596757	T	0.21921	0.0528	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.37174	-0.9717	10	0.66056	D	0.02	.	4.084	0.09939	0.2822:0.4992:0.137:0.0816	.	64	Q9UL19	TIG3_HUMAN	C	64	ENSP00000402943:R64C;ENSP00000255688:R64C;ENSP00000346431:R64C	ENSP00000255688:R64C	R	+	1	0	RARRES3	63068740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.061000	0.11693	0.054000	0.16065	0.655000	0.94253	CGC		0.582	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			89	718	0	0	0	1	0	89	718					T	63312164	C	T	63312164	3	4	79	1	0	0	0	0	1	0	0	0	13107	768	27	1	200	1	RARRES3	11	63312164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5083	63312164	71694352	12212	22529											
RARRES3	5920	broad.mit.edu	37	chr11	63312262	63312262	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtgatcatcagttctgcGaaggagatggttggtcagaa	15	5	4	3	rs200737005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000255688.3	+	3	336	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000439013.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	96					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(286-288)gcG>gcA		retinoic acid receptor responder (tazarotene induced) 3							128	132	131					11																	63312262		2026	4195	6221	SO:0001819	synonymous_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312262G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.288G>A	11.37:g.63312262G>A						RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Silent_p.A96A|RARRES3_ENST00000354445.2_Silent_p.A96A	p.A96A			Q9UL19	TIG3_HUMAN			3	341	+			96					B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	ENST00000255688.3	37	c.288G>A	CCDS41662.1																																																																																				0.527	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			100	480	0	0	0	1	0	100	480					A	63312262	G	A	63312262	2	1	79	1	0	0	0	0	0	0	0	1	13107	1045	37	1		1	RARRES3	11	63312262	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	63312262	71694254	12213	22530											
HRASLS2	54979	broad.mit.edu	37	chr11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtgcatagccaaagCgagaaatctcaatcaggtct	9	11	3	1	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	18					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502																																						ENST00000255695.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(52-54)cGc>cAc		HRAS-like suppressor 2		C	HIS/ARG	0,4402		0,0,2201	232	224	227		53	-0.4	0	11	dbSNP_134	227	1,8595	1.2+/-3.3	0,1,4297	no	missense	HRASLS2	NM_017878.1	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	18/163	63327622	1,12997	2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63327622C>T		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.53G>A	11.37:g.63327622C>T	ENSP00000255695:p.Arg18His						p.R18H	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			2	111	-			18					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.53G>A	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625248	0.87560	0.0	1.16E-4	ENSG00000133328	ENST00000255695	T	0.45276	0.9	4.86	-0.381	0.12485	.	0.194727	0.29253	U	0.012692	T	0.57272	0.2042	M	0.89163	3.01	0.09310	N	1	D	0.69078	0.997	D	0.63957	0.92	T	0.49790	-0.8902	10	0.54805	T	0.06	-1.4955	2.6373	0.04961	0.132:0.4194:0.2856:0.1631	.	18	Q9NWW9	HRSL2_HUMAN	H	18	ENSP00000255695:R18H	ENSP00000255695:R18H	R	-	2	0	HRASLS2	63084198	0.098000	0.21812	0.000000	0.03702	0.886000	0.51366	1.077000	0.30741	-0.225000	0.09913	0.563000	0.77884	CGC		0.502	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		186	845	0	0	0	1	0	186	845					T	63327622	C	T	63327622	3	4	79	1	0	0	0	0	1	0	0	0	7380	768	27	1	447	1	HRASLS2	11	63327622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15360	63327622	71678894	12214	22531											
RTN3	10313	broad.mit.edu	37	chr11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaaaacctgtacctgactCtttgaattccacaaaagaat	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	424					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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1270-1272)tCt>tAt		reticulon 3							68	68	68					11																	63487245		2201	4298	6499	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.chr11:63487245C>A	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.1271C>A	11.37:g.63487245C>A	ENSP00000367050:p.Ser424Tyr					RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y	p.S424Y	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1425	+			424					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1271C>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.750587	0.00086	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.19532	2.14;2.14;2.14	5.85	-11.7	0.00046	.	3.215830	0.00741	N	0.001011	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17653	-1.0362	10	0.02654	T	1	19.0572	9.1785	0.37127	0.4456:0.3475:0.2069:0.0	.	312;424;405	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	424;405;312	ENSP00000367050:S424Y;ENSP00000344106:S405Y;ENSP00000442733:S312Y	ENSP00000344106:S405Y	S	+	2	0	RTN3	63243821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.396000	0.02513	-2.885000	0.00317	-0.868000	0.02995	TCT		0.423	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		65	313	1	0	3.57465e-26	1	4.11543e-26	65	313					A	63487245	C	A	63487245	3	1	79	1	0	0	0	0	1	0	0	0	13777	913	32	3	1281	3	RTN3	11	63487245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159623	63487245	71519271	12215	22532											
RTN3	10313	broad.mit.edu	37	chr11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagttgctcctgaaaagCctattactactgagaacccc	8	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	603					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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1807-1809)Cct>Tct		reticulon 3							105	111	109					11																	63487781		2201	4298	6499	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.chr11:63487781C>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.1807C>T	11.37:g.63487781C>T	ENSP00000367050:p.Pro603Ser					RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S	p.P603S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1961	+			603					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1807C>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389613	0.25118	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22336	1.97;1.97;1.96	5.77	3.86	0.44501	.	2.195500	0.01661	N	0.025135	T	0.14184	0.0343	N	0.14661	0.345	0.19775	N	0.99995	B;B;B	0.32753	0.383;0.264;0.383	B;B;B	0.26094	0.066;0.03;0.066	T	0.17258	-1.0375	10	0.30078	T	0.28	-1.5901	8.5939	0.33703	0.0:0.7584:0.1569:0.0846	.	491;603;584	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	603;584;491	ENSP00000367050:P603S;ENSP00000344106:P584S;ENSP00000442733:P491S	ENSP00000344106:P584S	P	+	1	0	RTN3	63244357	0.000000	0.05858	0.295000	0.24960	0.138000	0.21146	0.426000	0.21363	1.549000	0.49425	0.655000	0.94253	CCT		0.403	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		88	428	0	0	0	1	0	88	428					T	63487781	C	T	63487781	3	4	79	1	0	0	0	0	1	0	0	0	13777	739	26	2	1817	2	RTN3	11	63487781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	536	63487781	71518735	12216	22533											
RTN3	10313	broad.mit.edu	37	chr11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccgtcatccaagctgtacaGaagtcagaagaaggccatcc	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	904	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2710-2712)caG>caT		reticulon 3							81	62	68					11																	63517644		2201	4298	6499	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.chr11:63517644G>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.2712G>T	11.37:g.63517644G>T	ENSP00000367050:p.Gln904His					RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H	p.Q904H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			4	2866	+			904			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2712G>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754684	0.69648	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68593	2.085	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.981;0.996;0.999;0.986	T	0.65043	-0.6264	10	0.59425	D	0.04	-7.2178	10.9225	0.47174	0.0923:0.0:0.9077:0.0	.	108;792;904;108;108;885;127	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	H	108;127;134;904;885;792;108;108	ENSP00000340903:Q108H;ENSP00000348279:Q127H;ENSP00000437971:Q134H;ENSP00000367050:Q904H;ENSP00000344106:Q885H;ENSP00000442733:Q792H;ENSP00000440874:Q108H;ENSP00000346492:Q108H	ENSP00000344106:Q885H	Q	+	3	2	RTN3	63274220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.875000	0.63072	2.538000	0.85594	0.655000	0.94253	CAG		0.438	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		20	76	1	0	8.34094e-07	1	8.61956e-07	20	76					T	63517644	G	T	63517644	3	4	79	1	0	0	0	0	1	0	0	0	13777	933	33	3	2726	3	RTN3	11	63517644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29863	63517644	71488872	12217	22534											
C11orf84	144097	broad.mit.edu	37	chr11	63585407	63585407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagcccaggaggcagCgggcgggcactgtgcatggt	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(256-258)agC>agT		chromosome 11 open reading frame 84							67	62	64					11																	63585407		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63585407C>T	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.258C>T	11.37:g.63585407C>T							p.S86S	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			2	557	+			86					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.258C>T	CCDS31594.1																																																																																				0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		36	168	0	0	0	1	0	36	168					T	63585407	C	T	63585407	2	4	79	1	0	0	0	0	0	0	0	1	1672	767	27	1		1	C11orf84	11	63585407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67763	63585407	71421109	12218	22535											
C11orf84	144097	broad.mit.edu	37	chr11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acacccagctcaggggcccaGacagcaaggactcacccaaa	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	288										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGGGCCCAGACAGCAAGGA	0.642																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(862-864)Gac>Aac		chromosome 11 open reading frame 84							55	56	56					11																	63586402		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63586402G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.862G>A	11.37:g.63586402G>A	ENSP00000294244:p.Asp288Asn						p.D288N	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			5	1161	+			288					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.862G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172089	0.57584	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.50277	0.75	4.99	2.06	0.26882	.	1.012140	0.07893	N	0.971511	T	0.33411	0.0862	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.87932	D	0	-8.6044	6.4486	0.21890	0.3034:0.0:0.6966:0.0	.	288	Q9BUA3	CK084_HUMAN	N	288;63	ENSP00000294244:D288N	ENSP00000294244:D288N	D	+	1	0	C11orf84	63342978	0.439000	0.25610	0.007000	0.13788	0.923000	0.55619	0.965000	0.29319	0.615000	0.30124	0.561000	0.74099	GAC		0.642	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		92	337	0	0	0	1	0	92	337					A	63586402	G	A	63586402	3	1	79	1	0	0	0	0	1	0	0	0	1672	942	33	2	880	2	C11orf84	11	63586402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	63586402	71420114	12219	22536											
MARK2	2011	broad.mit.edu	37	chr11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgtggagcctaggagTtatcctctatacactggtca	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000509502.2	+	8	1077	c.614T>C	c.(613-615)gTt>gCt	p.V205A	MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCCTAGGAGTTATCCTCTAT	0.507																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(712-714)gTt>gCt		MAP/microtubule affinity-regulating kinase 2							164	176	172					11																	63667527		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667527T>C	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.614T>C	11.37:g.63667527T>C	ENSP00000423974:p.Val205Ala					MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000509502.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A	p.V238A	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			8	1292	+			238			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.713T>C	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.966610	0.92855	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	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	0.54143	0.1840	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.994;0.999;0.998	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	205;205;238;238;238;238	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	A	238;238;238;238;205;238;238;238;238;205;205;205;205	ENSP00000385751:V238A;ENSP00000326632:V238A;ENSP00000367040:V238A;ENSP00000389184:V238A;ENSP00000367041:V205A;ENSP00000425765:V238A;ENSP00000355091:V238A;ENSP00000294247:V238A;ENSP00000423974:V205A;ENSP00000421075:V205A;ENSP00000386128:V205A;ENSP00000415494:V205A	ENSP00000326632:V238A	V	+	2	0	MARK2	63424103	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTT		0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		181	792	0	0	0	1	0	181	792					C	63667527	T	C	63667527	3	2	79	1	0	0	0	0	1	0	0	0	9354	1725	60	4	743	4	MARK2	11	63667527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81125	63667527	71338989	12220	22537											
MARK2	283248	broad.mit.edu	37	chr11	63676641	63676641	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacggggttcgatttaagCggatatcgggcacctccatg	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63676641C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000402010.2_Missense_Mutation_p.R767W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCGATTTAAGCGGATATCGGG	0.612																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2299-2301)Cgg>Tgg		MAP/microtubule affinity-regulating kinase 2							83	77	79					11																	63676641		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676641C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676641C>T						MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W	p.R767W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			19	2878	+			767			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2299C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646942	0.67358	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	4.41	3.49	0.39957	Kinase-associated KA1 (4);	0.000000	0.64402	D	0.000001	T	0.81941	0.4929	M	0.91818	3.245	0.58432	D	0.999997	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;0.999;0.999;0.996;1.0;0.999	D	0.85909	0.1439	10	0.87932	D	0	.	13.0541	0.58969	0.1623:0.8377:0.0:0.0	.	678;724;688;698;767;703	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	W	767;758;752;713;670;703;698;688;759;724;734;670;678	ENSP00000385751:R767W;ENSP00000326632:R758W;ENSP00000367040:R752W;ENSP00000389184:R713W;ENSP00000367041:R670W;ENSP00000425765:R703W;ENSP00000355091:R698W;ENSP00000294247:R688W;ENSP00000423974:R724W;ENSP00000421075:R734W;ENSP00000386128:R670W;ENSP00000415494:R678W	ENSP00000326632:R758W	R	+	1	2	MARK2	63433217	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.703000	0.25646	1.203000	0.43233	0.542000	0.68232	CGG		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		76	424	0	0	0	1	0	76	424					T	63676641	C	T	63676641	1	4	79	0	1	0	0	0	0	0	0	0	9354	759	27	1		1	MARK2	11	63676641	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9114	63676641	71329875	12221	22538											
NAA40	79829	broad.mit.edu	37	chr11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccttttctcacttccGgtttgacgtggagtgtgggg	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000377793.4	+	5	475	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	125	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(373-375)cGg>cAg		N(alpha)-acetyltransferase 40, NatD catalytic subunit							181	153	163					11																	63720001		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720001G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.374G>A	11.37:g.63720001G>A	ENSP00000367024:p.Arg125Gln					NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q	p.R125Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			5	475	+			125			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.374G>A	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029838	0.97216	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.23754	1.89;1.89;1.89	5.72	5.72	0.89469	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70934	-0.4737	10	0.62326	D	0.03	-15.2497	18.6393	0.91389	0.0:0.0:1.0:0.0	.	85;125	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	125;85;104	ENSP00000367024:R125Q;ENSP00000407578:R85Q;ENSP00000442055:R104Q	ENSP00000367024:R125Q	R	+	2	0	NAA40	63476577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.514000	0.98013	2.692000	0.91855	0.555000	0.69702	CGG		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		56	274	0	0	0	1	0	56	274					A	63720001	G	A	63720001	3	1	79	1	0	0	0	0	1	0	0	0	10166	1116	39	1	392	1	NAA40	11	63720001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43360	63720001	71286515	12222	22539											
NAA40	79829	broad.mit.edu	37	chr11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttggggacagccatcactCccacgcgggtgggcactgtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000377793.4	+	8	778	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	226					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(676-678)tCc>tTc		N(alpha)-acetyltransferase 40, NatD catalytic subunit							60	58	59					11																	63721914		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63721914C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.677C>T	11.37:g.63721914C>T	ENSP00000367024:p.Ser226Phe					NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F	p.S226F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			8	778	+			226					B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.677C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401041	0.62288	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.68	4.68	0.58851	.	0.421413	0.28555	N	0.014933	T	0.41696	0.1170	N	0.14661	0.345	0.50813	D	0.999892	B;B	0.32693	0.38;0.38	B;B	0.28011	0.085;0.085	T	0.50039	-0.8874	9	0.72032	D	0.01	-13.045	16.5473	0.84450	0.0:1.0:0.0:0.0	.	186;226	B4DU10;Q86UY6	.;NAA40_HUMAN	F	226;186;113;205	.	ENSP00000367024:S226F	S	+	2	0	NAA40	63478490	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	3.430000	0.52807	2.429000	0.82318	0.555000	0.69702	TCC		0.562	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		57	233	0	0	0	1	0	57	233					T	63721914	C	T	63721914	3	4	79	1	0	0	0	0	1	0	0	0	10166	855	30	2	707	2	NAA40	11	63721914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	63721914	71284602	12223	22540											
COX8A	1351	broad.mit.edu	37	chr11	63742167	63742167	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatcatgtccgtcctgacGccgctgctgctgcggggctt	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63742167G>T	ENST00000314133.3	+	1	89	c.15G>T	c.(13-15)acG>acT	p.T5T	AP000721.4_ENST00000535431.1_Silent_p.T5T	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	5					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										CCGTCCTGACGCCGCTGCTGC	0.642																																						ENST00000535431.1																			0											c.(13-15)acG>acT									27	28	27					11																	63742167		2200	4294	6494	SO:0001819	synonymous_variant	0							g.chr11:63742167G>T	J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2294	protein-coding gene	gene with protein product		123870	"cytochrome c oxidase subunit VIII", "cytochrome c oxidase subunit 8A (ubiquitous)"	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.15G>T	11.37:g.63742167G>T						COX8A_ENST00000314133.3_Silent_p.T5T	p.T5T							1	76	+								P15955	Silent	SNP	ENST00000314133.3	37	c.15G>T	CCDS8054.1																																																																																				0.642	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396273.1	NM_004074		13	77	1	0	1.15088e-07	1	1.19614e-07	13	77					T	63742167	G	T	63742167	2	4	79	1	0	0	0	0	0	0	0	1	3794	1074	38	3		3	COX8A	11	63742167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20253	63742167	71264349	12224	22541											
MACROD1	28992	broad.mit.edu	37	chr11	63782725	63782725	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaaggtccactcaccGccaccgcctccgagcaggga	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	182	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding. {ECO:0000250}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.e4+1		MACRO domain containing 1							80	57	65					11																	63782725		2198	4295	6493	SO:0001630	splice_region_variant	28992							g.chr11:63782725G>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.547+1C>T	11.37:g.63782725G>A							p.G182_splice	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			4	612	-			182			Macro.		Q9UH96	Splice_Site	SNP	ENST00000255681.6	37	c.547_splice	CCDS8056.1																																																																																				0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	Silent	21	70	0	0	0	1	0	21	70					A	63782725	G	A	63782725	5	1	79	1	0	0	0	0	0	0	1	0	9184	1101	38	1	459	1	MACROD1	11	63782725	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40558	63782725	71223791	12225	22542											
FLRT1	28992	broad.mit.edu	37	chr11	63883842	63883842	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggacctgcgggactggCtgttcctctgctacgggctc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63883842C>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.L35M	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCGGGACTGGCTGTTCCTCTG	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(103-105)Ctg>Atg		fibronectin leucine rich transmembrane protein 1							116	64	81					11																	63883842		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63883842C>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34868G>T	11.37:g.63883842C>A						MACROD1_ENST00000255681.6_Intron	p.L35M	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1146	+			7			LRRNT.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.103C>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544389	0.65198	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.4	4.48	0.54585	.	0.220980	0.29537	N	0.011865	T	0.66839	0.2830	M	0.67397	2.05	0.52501	D	0.999958	D	0.65815	0.995	P	0.62298	0.9	T	0.70081	-0.4970	10	0.72032	D	0.01	-13.9043	13.3834	0.60783	0.0:0.9211:0.0:0.0789	.	7	Q9NZU1	FLRT1_HUMAN	M	35	ENSP00000246841:L35M	ENSP00000246841:L35M	L	+	1	2	FLRT1	63640418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	2.537000	0.85549	0.561000	0.74099	CTG		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		33	105	1	0	8.4185e-14	1	9.11178e-14	33	105					A	63883842	C	A	63883842	1	1	79	0	1	0	0	0	0	0	0	0	5963	796	28	3		3	FLRT1	11	63883842	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101117	63883842	71122674	12226	22543											
FLRT1	28992	broad.mit.edu	37	chr11	63884115	63884115	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttccccatcaacctgCcccgctccctccgggagctg	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884115C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.P126S	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CATCAACCTGCCCCGCTCCCT	0.607																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(376-378)Ccc>Tcc		fibronectin leucine rich transmembrane protein 1							52	51	52					11																	63884115		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884115C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34595G>A	11.37:g.63884115C>T						MACROD1_ENST00000255681.6_Intron	p.P126S	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1419	+			98					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.376C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119384	0.77323	.	.	ENSG00000126500	ENST00000246841	T	0.02787	4.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00341	-1.1804	10	0.62326	D	0.03	-40.3267	18.3184	0.90229	0.0:1.0:0.0:0.0	.	98	Q9NZU1	FLRT1_HUMAN	S	126	ENSP00000246841:P126S	ENSP00000246841:P126S	P	+	1	0	FLRT1	63640691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.765000	0.85310	2.619000	0.88677	0.561000	0.74099	CCC		0.607	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		50	186	0	0	0	1	0	50	186					T	63884115	C	T	63884115	1	4	79	0	1	0	0	0	0	0	0	0	5963	739	26	2		2	FLRT1	11	63884115	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273	63884115	71122401	12227	22544											
FLRT1	28992	broad.mit.edu	37	chr11	63884481	63884481	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacaccttcagccgcctaCagaacctcacagagctctcg	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884481C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Nonsense_Mutation_p.Q248*	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGCCGCCTACAGAACCTCAC	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(742-744)Cag>Tag		fibronectin leucine rich transmembrane protein 1							29	27	28					11																	63884481		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884481C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34229G>A	11.37:g.63884481C>T						MACROD1_ENST00000255681.6_Intron	p.Q248*	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1785	+			220					Q9UH96	Nonsense_Mutation	SNP	ENST00000255681.6	37	c.742C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	42	9.548870	0.99202	.	.	ENSG00000126500	ENST00000246841	.	.	.	5.56	3.63	0.41609	.	0.290368	0.31392	N	0.007727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-24.6211	14.9428	0.71006	0.0:0.7278:0.2722:0.0	.	.	.	.	X	248	.	ENSP00000246841:Q248X	Q	+	1	0	FLRT1	63641057	0.997000	0.39634	1.000000	0.80357	0.368000	0.29767	2.333000	0.43912	0.664000	0.31047	-0.314000	0.08810	CAG		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		34	114	0	0	0	1	0	34	114					T	63884481	C	T	63884481	1	4	79	0	1	0	0	0	0	0	0	0	5963	479	17	2		2	FLRT1	11	63884481	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63884481	71122035	12228	22545											
STIP1	10963	broad.mit.edu	37	chr11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattcacgaaaagcagcaGctctagagttcttaaaccgc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000305218.4	+	3	388	c.241G>A	c.(241-243)Gct>Act	p.A81T	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000358794.5_Missense_Mutation_p.A128T|STIP1_ENST00000538945.1_Intron	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	81					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(382-384)Gct>Act		stress-induced-phosphoprotein 1							118	121	120					11																	63961682		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63961682G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.241G>A	11.37:g.63961682G>A	ENSP00000305958:p.Ala81Thr					STIP1_ENST00000538945.1_Intron|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Missense_Mutation_p.A81T	p.A128T			P31948	STIP1_HUMAN			3	935	+			81					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.382G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718011	0.96839	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	T;T;T	0.68025	1.98;1.98;-0.3	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.85372	0.1114	10	0.45353	T	0.12	-15.1911	18.7171	0.91679	0.0:0.0:1.0:0.0	.	81;81	P31948;F5H783	STIP1_HUMAN;.	T	128;81;81	ENSP00000351646:A128T;ENSP00000305958:A81T;ENSP00000442704:A81T	ENSP00000305958:A81T	A	+	1	0	STIP1	63718258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.139000	0.94554	2.788000	0.95919	0.650000	0.86243	GCT		0.418	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		136	574	0	0	0	1	0	136	574					A	63961682	G	A	63961682	3	1	79	1	0	0	0	0	1	0	0	0	15337	971	34	2	251	2	STIP1	11	63961682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77201	63961682	71044834	12229	22546											
FERMT3	83706	broad.mit.edu	37	chr11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccaggctgtggctgCcatctgccgcctcctcagta	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	126					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(376-378)gCc>gTc		fermitin family member 3							50	58	55					11																	63978299		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978299C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.377C>T	11.37:g.63978299C>T	ENSP00000279227:p.Ala126Val					FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	472	+			126					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.377C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449334	0.43531	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.14640	2.49;2.49;2.49	3.68	0.445	0.16597	Band 4.1 domain (1);	0.159347	0.42964	D	0.000624	T	0.09512	0.0234	L	0.38175	1.15	0.32276	N	0.568278	B;B	0.19445	0.036;0.008	B;B	0.25140	0.058;0.011	T	0.14062	-1.0486	10	0.31617	T	0.26	-11.6903	6.2277	0.20718	0.6032:0.2977:0.0:0.0991	.	126;126	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	126	ENSP00000445778:A126V;ENSP00000339950:A126V;ENSP00000279227:A126V	ENSP00000279227:A126V	A	+	2	0	FERMT3	63734875	1.000000	0.71417	0.816000	0.32577	0.992000	0.81027	1.490000	0.35573	0.004000	0.14682	0.555000	0.69702	GCC		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		120	542	0	0	0	1	0	120	542					T	63978299	C	T	63978299	3	4	79	1	0	0	0	0	1	0	0	0	5844	739	26	2	383	2	FERMT3	11	63978299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16617	63978299	71028217	12230	22547											
FERMT3	83706	broad.mit.edu	37	chr11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacagcagctacaccaGcgaggtgcaggccatcctgg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	468	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1402-1404)aGc>aTc		fermitin family member 3							12	15	14					11																	63987987		2184	4270	6454	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63987987G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1403G>T	11.37:g.63987987G>T	ENSP00000279227:p.Ser468Ile					FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	p.S468I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			12	1498	+			468			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1403G>T	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944161|0.944161	0.18281|0.18281	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|T;T	0.56941|0.71579	0.43|-0.58;-0.58	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (2);	.|0.149940	.|0.64402	.|D	.|0.000020	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.50333|0.50333	1.59|1.59	0.47245|0.47245	D|D	0.999366|0.999366	.|P;P	.|0.46277	.|0.875;0.753	.|P;P	.|0.48795	.|0.454;0.59	T|T	0.71764|0.71764	-0.4494|-0.4494	7|10	0.49607|0.46703	T|T	0.09|0.11	-27.66|-27.66	12.5477|12.5477	0.56210|0.56210	0.0:0.1693:0.8307:0.0|0.0:0.1693:0.8307:0.0	.|.	.|464;468	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|I	27|464;468	ENSP00000440209:A27S|ENSP00000339950:S464I;ENSP00000279227:S468I	ENSP00000440209:A27S|ENSP00000279227:S468I	A|S	+|+	1|2	0|0	FERMT3|FERMT3	63744563|63744563	0.055000|0.055000	0.20627|0.20627	0.983000|0.983000	0.44433|0.44433	0.057000|0.057000	0.15508|0.15508	1.991000|1.991000	0.40727|0.40727	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	GCG|AGC		0.716	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		28	87	1	0	2.44723e-14	1	2.65813e-14	28	87					T	63987987	G	T	63987987	3	4	79	1	0	0	0	0	1	0	0	0	5844	971	34	3	1445	3	FERMT3	11	63987987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9688	63987987	71018529	12231	22548											
PLCB3	5331	broad.mit.edu	37	chr11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtactggacgggccCcaacatggtgagggtgggcg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	57					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(169-171)cCc>cAc		phospholipase C, beta 3 (phosphatidylinositol-specific)							133	124	127					11																	64021957		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64021957C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.170C>A	11.37:g.64021957C>A	ENSP00000443631:p.Pro57His					PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	p.P57H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			2	273	+			57					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.170C>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690530	0.48097	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	2.609590	0.03948	N	0.288080	T	0.48003	0.1476	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.49752	0.621	T	0.32613	-0.9900	10	0.72032	D	0.01	.	14.2399	0.65950	0.0:1.0:0.0:0.0	.	57	Q01970	PLCB3_HUMAN	H	57	ENSP00000279230:P57H;ENSP00000443631:P57H	ENSP00000279230:P57H	P	+	2	0	PLCB3	63778533	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.618000	0.36954	2.139000	0.66308	0.550000	0.68814	CCC		0.682	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			181	750	1	0	1.06352e-88	1	1.36425e-88	181	750					A	64021957	C	A	64021957	3	1	79	1	0	0	0	0	1	0	0	0	12071	623	22	3	176	3	PLCB3	11	64021957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33970	64021957	70984559	12232	22549											
PLCB3	5331	broad.mit.edu	37	chr11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggagaagctgatgAcggtggtgtctgggccagac	19	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A|PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	105					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(313-315)Acg>Gcg		phospholipase C, beta 3 (phosphatidylinositol-specific)							67	63	64					11																	64022436		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022436A>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.313A>G	11.37:g.64022436A>G	ENSP00000443631:p.Thr105Ala					PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	p.T105A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			4	416	+			105					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.313A>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	a	15.77	2.930752	0.52866	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.67	4.67	0.58626	.	0.053649	0.64402	D	0.000001	T	0.70780	0.3263	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.97	T	0.76680	-0.2870	10	0.87932	D	0	.	13.4244	0.61018	1.0:0.0:0.0:0.0	.	38;105	G5E960;Q01970	.;PLCB3_HUMAN	A	105;105;38	ENSP00000279230:T105A;ENSP00000443631:T105A;ENSP00000324660:T38A	ENSP00000279230:T105A	T	+	1	0	PLCB3	63779012	1.000000	0.71417	0.974000	0.42286	0.100000	0.18952	8.999000	0.93557	1.885000	0.54596	0.454000	0.30748	ACG		0.612	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			32	161	0	0	0	1	0	32	161					G	64022436	A	G	64022436	3	3	79	1	0	0	0	0	1	0	0	0	12071	275	10	4	327	4	PLCB3	11	64022436	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	479	64022436	70984080	12233	22550											
BAD	572	broad.mit.edu	37	chr11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtggtggggtacttacctCcatgatggctgctgctggtt	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394532.3	-	1	455	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GPR137_ENST00000438980.2_5'Flank|GPR137_ENST00000539851.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E|GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000377702.4_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	62					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(184-186)gGa>gAa		BCL2-associated agonist of cell death							66	52	57					11																	64051656		2196	4283	6479	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64051656C>T	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.185G>A	11.37:g.64051656C>T	ENSP00000378040:p.Gly62Glu					BAD_ENST00000394531.3_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E	p.G62E	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN			1	455	-			62					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.185G>A	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898415	0.52227	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	3.84	2.92	0.33932	.	0.452778	0.19726	N	0.107474	T	0.60573	0.2279	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.69654	0.965;0.769	T	0.61297	-0.7091	10	0.66056	D	0.02	-22.4463	7.4518	0.27242	0.0:0.8821:0.0:0.1179	.	62;62	A8MXU7;Q92934	.;BAD_HUMAN	E	62	ENSP00000378040:G62E;ENSP00000309103:G62E;ENSP00000440575:G62E;ENSP00000378039:G62E	ENSP00000309103:G62E	G	-	2	0	BAD	63808232	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.870000	0.28010	1.187000	0.43000	0.561000	0.74099	GGA		0.652	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		64	267	0	0	0	1	0	64	267					T	64051656	C	T	64051656	3	4	79	1	0	0	0	0	1	0	0	0	1286	855	30	2	333	2	BAD	11	64051656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29220	64051656	70954860	12234	22551											
GPR137	56834	broad.mit.edu	37	chr11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctctgggccgccttgCgtaccaccctcttctccttc	8	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000313074.3	+	1	322	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|GPR137_ENST00000539851.1_Missense_Mutation_p.R73C|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	73						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(217-219)Cgt>Tgt		G protein-coupled receptor 137							157	159	158					11																	64054213		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64054213C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.217C>T	11.37:g.64054213C>T	ENSP00000321698:p.Arg73Cys					GPR137_ENST00000313074.3_Missense_Mutation_p.R73C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000438980.2_Missense_Mutation_p.R73C	p.R73C	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	684	+			73					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.217C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298482	0.81025	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.71579	1.54;-0.58;-0.35;1.54;1.54;1.54;1.54;-0.41;-0.51;1.54;1.54	4.01	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.77315	0.4112	L	0.47716	1.5	0.58432	D	0.999993	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	0.994;0.997;0.994;1.0;0.968;0.996;0.994	T	0.77694	-0.2492	10	0.87932	D	0	-5.3832	10.5188	0.44907	0.1953:0.8047:0.0:0.0	.	73;131;79;73;73;73;73	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	C	79;131;73;73;73;73;73;73;73;73;73;73;73;73	ENSP00000445570:R79C;ENSP00000411827:R131C;ENSP00000442792:R73C;ENSP00000438716:R73C;ENSP00000446342:R73C;ENSP00000441003:R73C;ENSP00000445000:R73C;ENSP00000415698:R73C;ENSP00000321698:R73C;ENSP00000441034:R73C;ENSP00000442929:R73C	ENSP00000321698:R73C	R	+	1	0	GPR137	63810789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.871000	0.35750	0.561000	0.74099	CGT		0.622	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		238	1158	0	0	0	1	0	238	1158					T	64054213	C	T	64054213	3	4	79	1	0	0	0	0	1	0	0	0	6674	768	27	1	401	1	GPR137	11	64054213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2557	64054213	70952303	12235	22552											
GPR137	56834	broad.mit.edu	37	chr11	64054338	64054338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttgacgcttatgaaCctctactttgcccaggtaac	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000313074.3	+	1	447	c.342C>T	c.(340-342)aaC>aaT	p.N114N	GPR137_ENST00000438980.2_Silent_p.N114N|GPR137_ENST00000539851.1_Silent_p.N114N|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000377702.4_Silent_p.N114N	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	114						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTATGAACCTCTACTTTG	0.617																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(340-342)aaC>aaT		G protein-coupled receptor 137							77	79	78					11																	64054338		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054338C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.342C>T	11.37:g.64054338C>T						GPR137_ENST00000313074.3_Silent_p.N114N|GPR137_ENST00000377702.4_Silent_p.N114N|GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000438980.2_Silent_p.N114N	p.N114N	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	809	+			114					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.342C>T	CCDS8066.1																																																																																				0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		23	654	0	0	0	1	0	23	654					T	64054338	C	T	64054338	2	4	79	1	0	0	0	0	0	0	0	1	6674	506	18	2		2	GPR137	11	64054338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125	64054338	70952178	12236	22553											
GPR137	56834	broad.mit.edu	37	chr11	64055662	64055662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctggacaccttcgattaCgactggtacaatgtgtctga	11	10	1	1	rs571034209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000313074.3	+	4	864	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000539851.1_Silent_p.Y253Y|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000377702.4_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	253						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.0					ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(757-759)taC>taT		G protein-coupled receptor 137							84	83	83					11																	64055662		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64055662C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.759C>T	11.37:g.64055662C>T						GPR137_ENST00000313074.3_Silent_p.Y253Y|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000438980.2_Silent_p.Y253Y	p.Y253Y	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			5	1226	+			253					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.759C>T	CCDS8066.1																																																																																				0.637	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		99	483	0	0	0	1	0	99	483					T	64055662	C	T	64055662	2	4	79	1	0	0	0	0	0	0	0	1	6674	547	19	1		1	GPR137	11	64055662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1324	64055662	70950854	12237	22554											
GPR137	56834	broad.mit.edu	37	chr11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtctttgcctctcGgtcctacttctttgaccggg	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000313074.3	+	6	1058	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|GPR137_ENST00000539851.1_Intron|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	318						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617																																						ENST00000438980.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(952-954)cGg>cAg		G protein-coupled receptor 137							83	67	73					11																	64056115		2198	4297	6495	SO:0001583	missense	56834					integral to membrane		g.chr11:64056115G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.953G>A	11.37:g.64056115G>A	ENSP00000321698:p.Arg318Gln					GPR137_ENST00000313074.3_Missense_Mutation_p.R318Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q|GPR137_ENST00000539851.1_Intron|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q	p.R318Q	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN			6	1060	+			318					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.953G>A	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103582	0.56291	.	.	ENSG00000173264	ENST00000411458;ENST00000377702;ENST00000438980;ENST00000313074	T;T;T	0.58652	0.32;0.41;0.36	4.84	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.45352	1.415	0.80722	D	1	P;D;P;D	0.71674	0.938;0.998;0.883;0.978	B;P;B;P	0.56563	0.364;0.801;0.235;0.457	T	0.58272	-0.7665	10	0.66056	D	0.02	-8.6912	6.3244	0.21234	0.0975:0.0:0.7238:0.1787	.	376;318;318;268	B4DTG7;Q96N19-2;Q96N19;Q96N19-3	.;.;G137A_HUMAN;.	Q	376;268;318;318	ENSP00000411827:R376Q;ENSP00000415698:R318Q;ENSP00000321698:R318Q	ENSP00000321698:R318Q	R	+	2	0	GPR137	63812691	0.998000	0.40836	0.993000	0.49108	0.863000	0.49368	6.880000	0.75578	1.029000	0.39812	0.462000	0.41574	CGG		0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		14	71	0	0	0	1	0	14	71					A	64056115	G	A	64056115	3	1	79	1	0	0	0	0	1	0	0	0	6674	1116	39	1	1157	1	GPR137	11	64056115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	64056115	70950401	12238	22555											
KCNK4	50801	broad.mit.edu	37	chr11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcaggggtcggggaccGgctgggctcctccctgcgcc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632																																						ENST00000539216.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(421-423)cGg>cAg		potassium channel, subfamily K, member 4							46	48	47					11																	64064699		2201	4297	6498	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064699G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.422G>A	11.37:g.64064699G>A	ENSP00000444948:p.Arg141Gln					KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR	p.R141Q			Q9NYG8	KCNK4_HUMAN			3	782	+			141					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.422G>A	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770476|2.770476	0.49680|0.49680	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.36|5.36	4.25|4.25	0.50352|0.50352	.|Ion transport 2 (1);	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.05012|0.05012	-0.13|-0.13	0.38410|0.38410	D|D	0.945908|0.945908	B;B|B	0.14438|0.21905	0.01;0.01|0.062	B;B|B	0.10450|0.28784	0.005;0.005|0.094	T|T	0.16188|0.16188	-1.0411|-1.0411	8|10	0.87932|0.10111	D|T	0|0.7	.|.	8.2058|8.2058	0.31454|0.31454	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	114;75|141	B4DJC9;F5GYE0|Q9NYG8	.;.|KCNK4_HUMAN	S|Q	75|141;166;141;203;141	.|ENSP00000402797:R141Q;ENSP00000378033:R141Q;ENSP00000444948:R141Q	ENSP00000446454:G75S|ENSP00000378033:R141Q	G|R	+|+	1|2	0|0	KCNK4|KCNK4	63821275|63821275	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.977000|0.977000	0.68977|0.68977	5.891000|5.891000	0.69782|0.69782	2.521000|2.521000	0.84997|0.84997	0.555000|0.555000	0.69702|0.69702	GGC|CGG		0.632	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		18	348	0	0	0	1	0	18	348					A	64064699	G	A	64064699	3	1	79	1	0	0	0	0	1	0	0	0	8098	1116	39	1	432	1	KCNK4	11	64064699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8584	64064699	70941817	12239	22556											
ESRRA	2101	broad.mit.edu	37	chr11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctaattgtcacagcaGccccagtgaatgcactggtg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000406310.1_Splice_Site|ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	192					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(574-576)Gcc>Acc		estrogen-related receptor alpha							62	64	63					11																	64082215		2084	4217	6301	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082215G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.574G>A	11.37:g.64082215G>A	ENSP00000384851:p.Ala192Thr					ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site	p.A192T			P11474	ERR1_HUMAN			5	808	+			192					Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.574G>A	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657433|1.657433	0.29425|0.29425	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000406310|ENST00000000442;ENST00000539594;ENST00000405666	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Nuclear hormone receptor, ligand-binding (2);	.|0.000000	.|0.46442	.|D	.|0.000292	.|T	.|0.20981	.|0.0505	N|N	0.22421|0.22421	0.69|0.69	0.33007|0.33007	D|D	0.526971|0.526971	.|P	.|0.41524	.|0.753	.|B	.|0.28553	.|0.091	.|T	.|0.43278	.|-0.9401	.|10	.|0.62326	.|D	.|0.03	.|.	13.73|13.73	0.62781|0.62781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|P11474	.|ERR1_HUMAN	.|T	-1|192;49;192	.|ENSP00000000442:A192T;ENSP00000439896:A49T;ENSP00000384851:A192T	.|ENSP00000000442:A192T	.|A	+|+	.|1	.|0	ESRRA|ESRRA	63838791|63838791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.615000|0.615000	0.37417|0.37417	4.517000|4.517000	0.60503|0.60503	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	.|GCC		0.592	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		47	194	0	0	0	1	0	47	194					A	64082215	G	A	64082215	3	1	79	1	0	0	0	0	1	0	0	0	5278	971	34	2	588	2	ESRRA	11	64082215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17516	64082215	70924301	12240	22557											
ESRRA	2101	broad.mit.edu	37	chr11	64082498	64082498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgctgtcgctgtctgaCcagatgtcagtactgcagag	11	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000406310.1_Silent_p.D255D|ESRRA_ENST00000000442.6_Silent_p.D256D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	256	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(766-768)gaC>gaT		estrogen-related receptor alpha							13	14	14					11																	64082498		2086	4214	6300	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082498C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.768C>T	11.37:g.64082498C>T						ESRRA_ENST00000000442.6_Silent_p.D256D|ESRRA_ENST00000406310.1_Silent_p.D255D	p.D256D			P11474	ERR1_HUMAN			6	1002	+			256			Ligand binding domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.768C>T	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408958	0.11812	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	1.23	0.21249	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	7.5808	0.27963	0.0:0.6945:0.0:0.3055	.	.	.	.	I	37	.	.	T	+	2	0	ESRRA	63839074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.594000	0.36697	0.512000	0.28257	0.462000	0.41574	ACC		0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		6	75	0	0	0	1	0	6	75					T	64082498	C	T	64082498	2	4	79	1	0	0	0	0	0	0	0	1	5278	506	18	2		2	ESRRA	11	64082498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	64082498	70924018	12241	22558											
CCDC88B	283234	broad.mit.edu	37	chr11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgctgctggagcgagAacccctctgcttgaggcctg	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	235						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(703-705)gAa>gCa		coiled-coil domain containing 88B							31	30	30					11																	64109494		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109494A>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.704A>C	11.37:g.64109494A>C	ENSP00000349238:p.Glu235Ala					CCDC88B_ENST00000463837.1_3'UTR	p.E235A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	748	+			235					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.704A>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504144	0.44558	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.35048	1.33	3.96	2.83	0.33086	.	.	.	.	.	T	0.34832	0.0911	M	0.69358	2.11	0.09310	N	0.999999	B;B	0.21606	0.058;0.058	B;B	0.22152	0.038;0.038	T	0.35325	-0.9793	9	0.62326	D	0.03	.	6.0024	0.19527	0.8807:0.0:0.1193:0.0	.	235;235	B2RTU8;A6NC98	.;CC88B_HUMAN	A	235	ENSP00000349238:E235A	ENSP00000349238:E235A	E	+	2	0	CCDC88B	63866070	0.090000	0.21635	0.001000	0.08648	0.263000	0.26337	2.591000	0.46163	0.718000	0.32166	0.359000	0.22050	GAA		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		38	177	0	0	0	1	0	38	177					C	64109494	A	C	64109494	3	2	79	1	0	0	0	0	1	0	0	0	2871	246	9	4	734	4	CCDC88B	11	64109494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26996	64109494	70897022	12242	22559											
CCDC88B	283234	broad.mit.edu	37	chr11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccagtgctggaggaGgctccccagactcctgtggc	13	13	1	1	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1507-1509)gaG>gaT		coiled-coil domain containing 88B							37	39	38					11																	64111522		2200	4297	6497	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111522G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1509G>T	11.37:g.64111522G>T	ENSP00000349238:p.Glu503Asp					CCDC88B_ENST00000463837.1_3'UTR	p.E503D	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1553	+			503					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1509G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	9.265	1.044196	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23147	1.92	3.19	-4.77	0.03219	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.25169	0.094;0.119;0.094	B;B;B	0.19666	0.026;0.024;0.026	T	0.26155	-1.0111	9	0.59425	D	0.04	.	3.9414	0.09329	0.2302:0.0:0.2344:0.5354	.	503;152;503	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	503	ENSP00000349238:E503D	ENSP00000349238:E503D	E	+	3	2	CCDC88B	63868098	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.247000	0.08866	-0.922000	0.03789	0.456000	0.33151	GAG		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		48	255	1	0	7.88023e-25	1	9.02574e-25	48	255					T	64111522	G	T	64111522	3	4	79	1	0	0	0	0	1	0	0	0	2871	991	35	3	1563	3	CCDC88B	11	64111522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	64111522	70894994	12243	22560											
CCDC88B	283234	broad.mit.edu	37	chr11	64111581	64111581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcttggttcagaaggcaaGggatggaggcccccaggcct	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111581G>T	ENST00000356786.5	+	14	1612	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	523						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAAGGCAAGGGATGGAGGC	0.627																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1567-1569)aGg>aTg		coiled-coil domain containing 88B							55	60	58					11																	64111581		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111581G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1568G>T	11.37:g.64111581G>T	ENSP00000349238:p.Arg523Met					CCDC88B_ENST00000463837.1_3'UTR	p.R523M	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1612	+			523					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1568G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341344	0.24339	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.87	-2.05	0.07321	.	.	.	.	.	T	0.10208	0.0250	N	0.14661	0.345	0.09310	N	0.999999	B;P;B	0.40032	0.289;0.699;0.289	B;B;B	0.35073	0.071;0.195;0.071	T	0.13737	-1.0498	9	0.46703	T	0.11	.	1.0019	0.01479	0.2994:0.1544:0.3883:0.1578	.	523;172;523	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	M	523	ENSP00000349238:R523M	ENSP00000349238:R523M	R	+	2	0	CCDC88B	63868157	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.413000	0.21148	-0.528000	0.06366	0.456000	0.33151	AGG		0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		75	454	1	0	4.03997e-35	1	4.81766e-35	75	454					T	64111581	G	T	64111581	3	4	79	1	0	0	0	0	1	0	0	0	2871	1000	35	3	1622	3	CCDC88B	11	64111581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	64111581	70894935	12244	22561											
RPS6KA4	8986	broad.mit.edu	37	chr11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccttccctcagggcctcGattgggtggctctggctgcc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000334205.4	+	9	978	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.D305N	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	305	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(913-915)Gat>Aat		ribosomal protein S6 kinase, 90kDa, polypeptide 4							61	62	62					11																	64132779		2201	4297	6498	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64132779G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.913G>A	11.37:g.64132779G>A	ENSP00000333896:p.Asp305Asn					RPS6KA4_ENST00000334205.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N	p.D305N	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			9	1001	+			305			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.913G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	5.355	0.250875	0.10130	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.052494	0.64402	D	0.000001	T	0.39332	0.1074	N	0.17474	0.49	0.41103	D	0.985687	B;B;B;B	0.25169	0.037;0.119;0.045;0.037	B;B;B;B	0.15484	0.011;0.008;0.008;0.013	T	0.28073	-1.0055	10	0.12430	T	0.62	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	305;305;305;305	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	305;305;305;289	ENSP00000435580:D305N;ENSP00000333896:D305N;ENSP00000294261:D305N;ENSP00000432945:D289N	ENSP00000294261:D305N	D	+	1	0	RPS6KA4	63889355	1.000000	0.71417	0.984000	0.44739	0.049000	0.14656	5.253000	0.65452	2.363000	0.80096	0.471000	0.43371	GAT		0.597	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		50	254	0	0	0	1	0	50	254					A	64132779	G	A	64132779	3	1	79	1	0	0	0	0	1	0	0	0	13703	1058	37	1	947	1	RPS6KA4	11	64132779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	64132779	70873737	12245	22562											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137088	64137088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccgcgacctcaagccGgaggtgggcgagctgcctcg	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000334205.4	+	13	1664	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000528057.1_Silent_p.P526P|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	533	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1576-1578)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 4							15	16	15					11																	64137088		2173	4247	6420	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137088G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1599G>A	11.37:g.64137088G>A						RPS6KA4_ENST00000334205.4_Silent_p.P533P|RPS6KA4_ENST00000294261.4_Intron	p.P526P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			13	1666	+			533			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.1578G>A	CCDS8073.1																																																																																				0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		24	92	0	0	0	1	0	24	92					A	64137088	G	A	64137088	2	1	79	1	0	0	0	0	0	0	0	1	13703	1103	39	1		1	RPS6KA4	11	64137088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	64137088	70869428	12246	22563											
RPS6KA4	8986	broad.mit.edu	37	chr11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacccgggccgagcccccGtcgcctccaaaggggccccc	11	22	0	0	rs200411554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000334205.4	+	17	2331	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V749I|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	756	Required for nuclear targeting and association with MAPK14.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(2245-2247)Gtc>Atc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							7	9	8					11																	64138899		1787	3517	5304	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64138899G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2266G>A	11.37:g.64138899G>A	ENSP00000333896:p.Val756Ile					RPS6KA4_ENST00000334205.4_Missense_Mutation_p.V756I|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I	p.V749I	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			17	2333	+			756					A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.2245G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	0.411	-0.913058	0.02415	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.25	1.68	0.63	0.17693	.	0.408805	0.18438	U	0.141220	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22604	0.0;0.071;0.043;0.072	B;B;B;B	0.08055	0.0;0.002;0.001;0.003	T	0.29150	-1.0021	10	0.87932	D	0	.	7.2917	0.26370	0.319:0.0:0.681:0.0	.	508;749;756;750	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	I	749;756;508	ENSP00000435580:V749I;ENSP00000333896:V756I;ENSP00000294261:V508I	ENSP00000294261:V508I	V	+	1	0	RPS6KA4	63895475	0.006000	0.16342	0.002000	0.10522	0.016000	0.09150	0.268000	0.18571	-0.629000	0.05575	-1.786000	0.00637	GTC		0.731	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		40	138	0	0	0	1	0	40	138					A	64138899	G	A	64138899	3	1	79	1	0	0	0	0	1	0	0	0	13703	1145	40	1	2332	1	RPS6KA4	11	64138899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1811	64138899	70867617	12247	22564											
SLC22A12	116085	broad.mit.edu	37	chr11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggccccaccagtgccGccgcttccgccagccacagt	10	20	0	1	rs201567912		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377574.1	+	1	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCAGTGCCGCCGCTTCCGC	0.667																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(265-267)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 12							23	27	26					11																	64359294		2196	4294	6490	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359294G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.266G>A	11.37:g.64359294G>A	ENSP00000366797:p.Arg89His					SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H	p.R89H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			1	1013	+			89					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.266G>A	CCDS8075.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.530	1.110479	0.20714	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.14399	0.0348	L	0.58354	1.805	0.20196	N	0.999926	P;P;P;P	0.49253	0.809;0.809;0.921;0.809	B;B;B;B	0.43194	0.106;0.106;0.411;0.106	T	0.19679	-1.0298	10	0.28530	T	0.3	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	89	ENSP00000366790:R89H;ENSP00000366797:R89H;ENSP00000366795:R89H;ENSP00000336836:R89H	ENSP00000336836:R89H	R	+	2	0	SLC22A12	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		48	244	0	0	0	1	0	48	244					A	64359294	G	A	64359294	3	1	79	1	0	0	0	0	1	0	0	0	14493	1087	38	1	268	1	SLC22A12	11	64359294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220395	64359294	70647222	12248	22565											
NRXN2	9379	broad.mit.edu	37	chr11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgtcttgggggcaGccggggccttctctttcacc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000377551.1	-	22	5292	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1694					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGGGGGCAGCCGGGGCCTT	0.612																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(5080-5082)gCt>gTt		neurexin 2							39	44	42					11																	64374726		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374726G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5081C>T	11.37:g.64374726G>A	ENSP00000366774:p.Ala1694Val					NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1694V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V	p.A1694V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			23	5542	-			1694					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5081C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197830	0.09652	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62498	0.52;0.02;0.07;0.02;0.12	4.46	3.53	0.40419	.	0.516541	0.15138	U	0.278438	T	0.47655	0.1457	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.35139	0.486;0.014;0.021;0.263	B;B;B;B	0.40565	0.333;0.017;0.014;0.071	T	0.44528	-0.9322	10	0.56958	D	0.05	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1624;1694;1440;648	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	648;1694;1624;1694;1624;1687	ENSP00000301894:A648V;ENSP00000366774:A1694V;ENSP00000366782:A1624V;ENSP00000265459:A1694V;ENSP00000386416:A1687V	ENSP00000265459:A1694V	A	-	2	0	NRXN2	64131302	1.000000	0.71417	0.067000	0.19924	0.111000	0.19643	5.981000	0.70524	2.033000	0.60031	0.313000	0.20887	GCT		0.612	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		33	182	0	0	0	1	0	33	182					A	64374726	G	A	64374726	3	1	79	1	0	0	0	0	1	0	0	0	10708	971	34	2	61	2	NRXN2	11	64374726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15432	64374726	70631790	12249	22566											
NRXN2	9379	broad.mit.edu	37	chr11	64410050	64410050	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcatgcggttgatggCgatgggcacggtgccgtgct	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64410050C>T	ENST00000377551.1	-	16	3615				NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.A76T|NRXN2_ENST00000265459.6_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGTTGATGGCGATGGGCACG	0.721																																						ENST00000301894.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(226-228)Gcc>Acc		neurexin 2							47	37	41					11																	64410050		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64410050C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5640G>A	11.37:g.64410050C>T						NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron	p.A76T	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN			1	737	-			0			Laminin G-like 1.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.226G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	c	19.99	3.928373	0.73327	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.55930	0.49;0.85	1.81	0.537	0.17144	.	.	.	.	.	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	B	0.43950	0.437	T	0.47459	-0.9116	9	0.87932	D	0	.	6.4694	0.21999	0.2853:0.7147:0.0:0.0	.	76	P58401	NRX2B_HUMAN	T	76;37	ENSP00000301894:A76T;ENSP00000407374:A37T	ENSP00000301894:A76T	A	-	1	0	NRXN2	64166626	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.311000	0.51919	0.936000	0.37367	0.176000	0.17051	GCC		0.721	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		21	106	0	0	0	1	0	21	106					T	64410050	C	T	64410050	1	4	79	0	1	0	0	0	0	0	0	0	10708	768	27	1		1	NRXN2	11	64410050	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35324	64410050	70596466	12250	22567											
NRXN2	9379	broad.mit.edu	37	chr11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagccccacctttgagatCgaggtttcgggcgccattgg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000377551.1	-	14	3311	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1034	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTTTGAGATCGAGGTTTCGG	0.632																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3100-3102)Gat>Aat		neurexin 2							151	137	142					11																	64417929		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64417929C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3100G>A	11.37:g.64417929C>T	ENSP00000366774:p.Asp1034Asn					NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1034N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|AP001092.4_ENST00000433606.1_RNA	p.D1034N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			15	3561	-			1034			Laminin G-like 5.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3100G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254449	0.95336	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000577	D	0.83096	0.5180	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.84949	0.0870	10	0.87932	D	0	.	15.0551	0.71908	0.0:1.0:0.0:0.0	.	994;1034;780	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1034;994;1034;994;1027	ENSP00000366774:D1034N;ENSP00000366782:D994N;ENSP00000265459:D1034N;ENSP00000386416:D1027N	ENSP00000265459:D1034N	D	-	1	0	NRXN2	64174505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.488000	0.83962	0.655000	0.94253	GAT		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		21	752	0	0	0	1	0	21	752					T	64417929	C	T	64417929	3	4	79	1	0	0	0	0	1	0	0	0	10708	884	31	1	2343	1	NRXN2	11	64417929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7879	64417929	70588587	12251	22568											
RASGRP2	10235	broad.mit.edu	37	chr11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgccatagttgcctgtcgCcgtcactagttccgtgagac	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000354024.3	-	9	1096	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377494.1_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	282	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCCTGTCGCCGTCACTAGT	0.607																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(844-846)Gcg>Acg		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							40	40	40					11																	64504476		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64504476C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.844G>A	11.37:g.64504476C>T	ENSP00000338864:p.Ala282Thr					RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A282T	p.A282T			Q7LDG7	GRP2_HUMAN			8	1766	-			282			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.844G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699499	0.48307	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.119837	0.56097	D	0.000027	T	0.19725	0.0474	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.04140	-1.0974	10	0.87932	D	0	-6.3758	11.5176	0.50532	0.1792:0.8208:0.0:0.0	.	282;282	Q7LDG7;A6NDC7	GRP2_HUMAN;.	T	282	ENSP00000366714:A282T;ENSP00000377953:A282T;ENSP00000366717:A282T;ENSP00000338864:A282T	ENSP00000338864:A282T	A	-	1	0	RASGRP2	64261052	0.993000	0.37304	0.929000	0.37066	0.395000	0.30598	3.158000	0.50723	2.550000	0.86006	0.579000	0.79373	GCG		0.607	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		37	109	0	0	0	1	0	37	109					T	64504476	C	T	64504476	3	4	79	1	0	0	0	0	1	0	0	0	13125	739	26	2	1017	2	RASGRP2	11	64504476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86547	64504476	70502040	12252	22569											
PYGM	5837	broad.mit.edu	37	chr11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgaccacatccccgatggCtgtgacgagtctgatgatca	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.A538S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	626					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCGATGGCTGTGACGAGT	0.607																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1876-1878)Gcc>Tcc		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						102	103	102					11																	64518890		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64518890C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1876G>T	11.37:g.64518890C>A	ENSP00000164139:p.Ala626Ser					PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.A538S	p.A626S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			16	2274	-			626					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1876G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349894	0.11182	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92911	-2.98;-3.13	5.16	3.12	0.35913	.	0.221691	0.32372	N	0.006195	T	0.78729	0.4329	N	0.04724	-0.175	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.20767	0.021;0.031	T	0.70985	-0.4723	10	0.02654	T	1	-21.054	10.5174	0.44898	0.4743:0.5257:0.0:0.0	.	538;626	A6NDY6;P11217	.;PYGM_HUMAN	S	538;626;607	ENSP00000366650:A538S;ENSP00000164139:A626S	ENSP00000164139:A626S	A	-	1	0	PYGM	64275466	0.001000	0.12720	0.981000	0.43875	0.947000	0.59692	-0.092000	0.11129	1.381000	0.46364	0.561000	0.74099	GCC		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		67	289	1	0	2.50483e-33	1	2.96817e-33	67	289					A	64518890	C	A	64518890	3	1	79	1	0	0	0	0	1	0	0	0	12912	797	28	3	672	3	PYGM	11	64518890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14414	64518890	70487626	12253	22570											
SF1	7536	broad.mit.edu	37	chr11	64536602	64536602	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagggtcttaagatcCtattaaaggaaaaagaggtc	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000227503.9_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.e8-1		splicing factor 1							107	112	110					11																	64536602		2201	4297	6498	SO:0001630	splice_region_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536602C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.780-1G>A	11.37:g.64536602C>T						SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site		NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			8	1117	-								B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	SNP	ENST00000377390.3	37		CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810024	0.70797	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5751	0.87946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293178	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.260000	0.78391	2.752000	0.94435	0.557000	0.71058	.		0.458	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	Intron	94	374	0	0	0	1	0	94	374					T	64536602	C	T	64536602	5	4	79	1	0	0	0	0	0	0	1	0	14195	695	24	2	1302	2	SF1	11	64536602	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17712	64536602	70469914	12254	22571											
SF1	7536	broad.mit.edu	37	chr11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgcgggtgcggaactctCgggtgttaagccgcttcccc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000377390.3	-	4	627	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	97					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(289-291)cGa>cAa		splicing factor 1							118	117	117					11																	64537827		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537827C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.290G>A	11.37:g.64537827C>T	ENSP00000366607:p.Arg97Gln					SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q	p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			4	627	-			97					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.290G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698736	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.64618	-0.11;-0.02;0.0;0.18;-0.05;-0.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;P;D;D	0.69654	0.965;0.935;0.903;0.955;0.955	D	0.85181	0.1004	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	97;97;97;97;222	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	Q	222;97;97;97;97;71	ENSP00000366604:R222Q;ENSP00000366607:R97Q;ENSP00000227503:R97Q;ENSP00000366611:R97Q;ENSP00000334414:R97Q;ENSP00000396793:R71Q	ENSP00000227503:R97Q	R	-	2	0	SF1	64294403	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.264000	0.78432	2.748000	0.94277	0.462000	0.41574	CGA		0.537	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		55	589	0	0	0	1	0	55	589					T	64537827	C	T	64537827	3	4	79	1	0	0	0	0	1	0	0	0	14195	884	31	1	1807	1	SF1	11	64537827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	64537827	70468689	12255	22572											
MAP4K2	5871	broad.mit.edu	37	chr11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcatgggcccagatgtGcgtggatttccctgcagaaa	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	549	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(1645-1647)Cac>Tac		mitogen-activated protein kinase kinase kinase kinase 2							73	74	73					11																	64563851		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64563851G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1645C>T	11.37:g.64563851G>A	ENSP00000294066:p.His549Tyr					MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	p.H549Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			24	1736	-			549			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1645C>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191818	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.31	4.31	0.51392	Citron-like (3);	0.292538	0.33712	N	0.004633	T	0.06554	0.0168	N	0.21194	0.64	0.37448	D	0.914713	P;D	0.53619	0.925;0.961	P;P	0.51701	0.53;0.677	T	0.51576	-0.8688	10	0.27785	T	0.31	.	12.1955	0.54294	0.0:0.0:1.0:0.0	.	541;549	Q86VU3;Q12851	.;M4K2_HUMAN	Y	549;541	ENSP00000294066:H549Y;ENSP00000366567:H541Y	ENSP00000294066:H549Y	H	-	1	0	MAP4K2	64320427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.001000	0.63946	2.247000	0.74100	0.558000	0.71614	CAC		0.647	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		62	265	0	0	0	1	0	62	265					A	64563851	G	A	64563851	3	1	79	1	0	0	0	0	1	0	0	0	9301	1319	46	2	853	2	MAP4K2	11	64563851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	64563851	70442665	12256	22573											
MAP4K2	5871	broad.mit.edu	37	chr11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgcccagggcccagaCgtcacatagctcattgtagc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(589-591)Gtc>Atc		mitogen-activated protein kinase kinase kinase kinase 2							103	105	104					11																	64568445		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64568445C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.589G>A	11.37:g.64568445C>T	ENSP00000294066:p.Val197Ile					MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I|MAP4K2_ENST00000468062.1_5'UTR	p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			9	680	-			197			Protein kinase.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.589G>A	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054915	0.08291	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.25579	1.79;1.79	4.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138774	0.47852	D	0.000205	T	0.07188	0.0182	N	0.01250	-0.93	0.38384	D	0.945219	B;B	0.31625	0.332;0.278	B;B	0.34652	0.091;0.187	T	0.32107	-0.9919	10	0.02654	T	1	.	7.3691	0.26792	0.0:0.7191:0.0:0.2808	.	197;197	Q86VU3;Q12851	.;M4K2_HUMAN	I	197	ENSP00000294066:V197I;ENSP00000366567:V197I	ENSP00000294066:V197I	V	-	1	0	MAP4K2	64325021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.214000	0.32419	0.513000	0.28278	0.456000	0.33151	GTC		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		123	576	0	0	0	1	0	123	576					T	64568445	C	T	64568445	3	4	79	1	0	0	0	0	1	0	0	0	9301	536	19	1	1969	1	MAP4K2	11	64568445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4594	64568445	70438071	12257	22574											
MEN1	4221	broad.mit.edu	37	chr11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccacatgcagcacaGgcgtgggactgccctcctcc	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000337652.1	-	9	1807	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	435					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1303-1305)cCt>cTt		multiple endocrine neoplasia I							90	77	82					11																	64572567		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572567G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1304C>T	11.37:g.64572567G>A	ENSP00000337088:p.Pro435Leu					MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L	p.P435L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			9	1807	-			435					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1304C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101372	0.94245	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.97662	1.0161	10	0.87932	D	0	-17.8969	14.0916	0.64995	0.0:0.0:1.0:0.0	.	430;395;435	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	395;430;430;430;435;435;435;435;435	ENSP00000366538:P395L;ENSP00000366543:P430L;ENSP00000308975:P430L;ENSP00000323747:P430L;ENSP00000337088:P435L;ENSP00000377901:P435L;ENSP00000377899:P435L;ENSP00000396940:P435L;ENSP00000366530:P435L	ENSP00000308975:P430L	P	-	2	0	MEN1	64329143	1.000000	0.71417	0.898000	0.35279	0.974000	0.67602	8.435000	0.90297	2.257000	0.74773	0.456000	0.33151	CCT		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			47	210	0	0	0	1	0	47	210					A	64572567	G	A	64572567	3	1	79	1	0	0	0	0	1	0	0	0	9513	1000	35	2	551	2	MEN1	11	64572567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4122	64572567	70433949	12258	22575											
MEN1	4221	broad.mit.edu	37	chr11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcttcccgcacattgCggttgcgacagtggtagcca	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1009-1011)cGc>cAc		multiple endocrine neoplasia I							211	183	192					11																	64573758		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64573758C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1010G>A	11.37:g.64573758C>T	ENSP00000337088:p.Arg337His		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H	p.R337H	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			7	1513	-			337			Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1010G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991942	0.74703	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	3.92	3.92	0.45320	.	0.139807	0.41712	U	0.000830	D	0.98729	0.9573	L	0.43152	1.355	0.41578	D	0.988725	D;D;D	0.76494	0.999;0.991;0.999	P;P;P	0.60012	0.791;0.796;0.867	D	0.97955	1.0334	10	0.46703	T	0.11	-14.869	7.8854	0.29646	0.0:0.8839:0.0:0.1161	.	332;297;337	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	332;297;332;332;332;337;337;337;337;337;332	ENSP00000366533:R332H;ENSP00000366538:R297H;ENSP00000366543:R332H;ENSP00000308975:R332H;ENSP00000323747:R332H;ENSP00000337088:R337H;ENSP00000377901:R337H;ENSP00000377899:R337H;ENSP00000396940:R337H;ENSP00000366530:R337H;ENSP00000413944:R332H	ENSP00000308975:R332H	R	-	2	0	MEN1	64330334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.274000	0.43390	1.927000	0.55829	0.456000	0.33151	CGC		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			152	554	0	0	0	1	0	152	554					T	64573758	C	T	64573758	3	4	79	1	0	0	0	0	1	0	0	0	9513	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	64573758	70432758	12259	22576											
MEN1	4221	broad.mit.edu	37	chr11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacaccggcattgactGtctggcccctgcggtcctcg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000337652.1	-	3	1147	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	215					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.T210fs*13(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCATTGACTGTCTGGCCCCT	0.597			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Deletion - Frameshift(1)	p.T210fs*13(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(643-645)aCa>aTa		multiple endocrine neoplasia I							80	61	67					11																	64575388		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575388G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.644C>T	11.37:g.64575388G>A	ENSP00000337088:p.Thr215Ile					MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I	p.T215I	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1147	-			215					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.644C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483385	0.63962	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88	4.8	4.8	0.61643	.	0.128336	0.51477	D	0.000092	D	0.98432	0.9478	L	0.40543	1.245	0.51233	D	0.999918	P;P	0.37525	0.544;0.598	B;B	0.42361	0.266;0.385	D	0.99908	1.1187	10	0.66056	D	0.02	-3.0626	15.7433	0.77920	0.0:0.0:1.0:0.0	.	210;215	O00255-2;O00255	.;MEN1_HUMAN	I	210;210;210;210;215;215;215;215;215;210;210;210	ENSP00000366533:T210I;ENSP00000366543:T210I;ENSP00000308975:T210I;ENSP00000323747:T210I;ENSP00000337088:T215I;ENSP00000377901:T215I;ENSP00000377899:T215I;ENSP00000396940:T215I;ENSP00000366530:T215I;ENSP00000413944:T210I;ENSP00000394933:T210I;ENSP00000411218:T210I	ENSP00000308975:T210I	T	-	2	0	MEN1	64331964	1.000000	0.71417	0.946000	0.38457	0.729000	0.41735	6.808000	0.75206	2.386000	0.81285	0.462000	0.41574	ACA		0.597	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			9	273	0	0	0	1	0	9	273					A	64575388	G	A	64575388	3	1	79	1	0	0	0	0	1	0	0	0	9513	1377	48	2	1235	2	MEN1	11	64575388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1630	64575388	70431128	12260	22577											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggccgcccgttggcaGggcccacgtgtactaggtgg	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCCGTTGGCAGGGCCCACGTG	0.607																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4351-4353)cCt>cAt		CDC42 binding protein kinase gamma (DMPK-like)							98	90	92					11																	64594559		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594559G>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4352C>A	11.37:g.64594559G>T	ENSP00000345133:p.Pro1451His						p.P1451H	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4351	-			1451						Missense_Mutation	SNP	ENST00000342711.5	37	c.4352C>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596832	0.66332	.	.	ENSG00000171219	ENST00000342711	D	0.84442	-1.85	5.0	4.09	0.47781	.	0.646706	0.13776	N	0.363588	D	0.90724	0.7089	M	0.82716	2.605	0.45704	D	0.998617	D	0.65815	0.995	P	0.57244	0.816	D	0.90315	0.4340	10	0.87932	D	0	.	11.5066	0.50471	0.0884:0.0:0.9116:0.0	.	1451	Q6DT37	MRCKG_HUMAN	H	1451	ENSP00000345133:P1451H	ENSP00000345133:P1451H	P	-	2	0	CDC42BPG	64351135	1.000000	0.71417	0.408000	0.26446	0.322000	0.28314	6.173000	0.71937	1.247000	0.43917	0.561000	0.74099	CCT		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		17	579	1	0	1.67942e-08	1	1.75525e-08	17	579					T	64594559	G	T	64594559	3	4	79	1	0	0	0	0	1	0	0	0	3083	1000	35	3	319	3	CDC42BPG	11	64594559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19171	64594559	70411957	12261	22578											
CDC42BPG	55561	broad.mit.edu	37	chr11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtccagcagcagccgctGcagctcacccagcacctgca	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3193-3195)Cag>Tag		CDC42 binding protein kinase gamma (DMPK-like)							29	29	29					11																	64599088		2198	4294	6492	SO:0001587	stop_gained	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64599088G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3193C>T	11.37:g.64599088G>A	ENSP00000345133:p.Gln1065*		OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	CDC42BPG_ENST00000491280.1_5'UTR	p.Q1065*	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			28	3192	-			1065			PH.			Nonsense_Mutation	SNP	ENST00000342711.5	37	c.3193C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	40	8.391436	0.98791	.	.	ENSG00000171219	ENST00000342711	.	.	.	3.85	3.85	0.44370	.	0.000000	0.38111	N	0.001805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.6836	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000345133:Q1065X	Q	-	1	0	CDC42BPG	64355664	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.325000	0.65869	2.167000	0.68274	0.313000	0.20887	CAG		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		37	147	0	0	0	1	0	37	147					A	64599088	G	A	64599088	4	1	79	1	0	0	0	0	0	1	0	0	3083	1328	46	2	1502	2	CDC42BPG	11	64599088	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4529	64599088	70407428	12262	22579											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctggcacagagcctcCtccttaccactcggcctggg	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1894-1896)gaG>gaT		CDC42 binding protein kinase gamma (DMPK-like)							181	191	187					11																	64602876		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602876C>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1896G>T	11.37:g.64602876C>A	ENSP00000345133:p.Glu632Asp						p.E632D	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			16	1895	-			632						Missense_Mutation	SNP	ENST00000342711.5	37	c.1896G>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054298	0.55218	.	.	ENSG00000171219	ENST00000342711	T	0.52057	0.68	4.72	0.326	0.15908	.	0.309656	0.24836	N	0.035208	T	0.48926	0.1527	L	0.36672	1.1	0.25851	N	0.98394	D	0.64830	0.994	D	0.70716	0.97	T	0.31475	-0.9942	10	0.54805	T	0.06	.	4.3078	0.10956	0.3085:0.5054:0.0:0.1861	.	632	Q6DT37	MRCKG_HUMAN	D	632	ENSP00000345133:E632D	ENSP00000345133:E632D	E	-	3	2	CDC42BPG	64359452	0.998000	0.40836	0.985000	0.45067	0.753000	0.42808	0.675000	0.25232	0.160000	0.19432	-0.258000	0.10820	GAG		0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		350	1573	1	0	1.52288e-82	1	1.94913e-82	350	1573					A	64602876	C	A	64602876	3	1	79	1	0	0	0	0	1	0	0	0	3083	680	24	3	2847	3	CDC42BPG	11	64602876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3788	64602876	70403640	12263	22580											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606559	64606559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactcagcatagaagggCgtctccccaaagagcagctc	11	12	2	2	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(820-822)acG>acA		CDC42 binding protein kinase gamma (DMPK-like)							105	97	100					11																	64606559		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606559C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.822G>A	11.37:g.64606559C>T							p.T274T	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	821	-			274			Protein kinase.			Silent	SNP	ENST00000342711.5	37	c.822G>A	CCDS31601.1																																																																																				0.612	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		82	375	0	0	0	1	0	82	375					T	64606559	C	T	64606559	2	4	79	1	0	0	0	0	0	0	0	1	3083	755	27	1		1	CDC42BPG	11	64606559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3683	64606559	70399957	12264	22581											
CDC42BPG	55561	broad.mit.edu	37	chr11	64607741	64607741	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtagtccatcacaaggtaCtggaggtggcggacaagaat	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.e5-1		CDC42 binding protein kinase gamma (DMPK-like)							62	52	56					11																	64607741		2201	4297	6498	SO:0001630	splice_region_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64607741C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.433-1G>A	11.37:g.64607741C>T								NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			5	432	-									Splice_Site	SNP	ENST00000342711.5	37		CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154984	0.78114	.	.	ENSG00000171219	ENST00000342711	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7448	0.85469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPG	64364317	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.668000	0.83897	2.621000	0.88768	0.655000	0.94253	.		0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	Intron	47	207	0	0	0	1	0	47	207					T	64607741	C	T	64607741	5	4	79	1	0	0	0	0	0	0	1	0	3083	579	20	2	4355	2	CDC42BPG	11	64607741	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1182	64607741	70398775	12265	22582											
EHD1	10938	broad.mit.edu	37	chr11	64641903	64641903	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtttacctctgctgatCcgctgcttctctccagacag	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	164	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(490-492)cgG>cgA		EH-domain containing 1							63	47	53					11																	64641903		2200	4294	6494	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64641903C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.492G>A	11.37:g.64641903C>T						EHD1_ENST00000359393.2_Silent_p.R164R	p.R164R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			2	746	-			164					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.492G>A	CCDS8084.1																																																																																				0.557	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		12	39	0	0	0	1	0	12	39					T	64641903	C	T	64641903	2	4	79	1	0	0	0	0	0	0	0	1	4993	842	30	2		2	EHD1	11	64641903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34162	64641903	70364613	12266	22583											
ATG2A	23130	broad.mit.edu	37	chr11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttctgctcatggccccgcGatgccacgtcacagatggtc	10	16	3	1	rs369775317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000377264.3	-	41	5733	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1874					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)				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						ATGGCCCCGCGATGCCACGTC	0.677																																						ENST00000421419.2																			0				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						c.(5626-5628)tCg>tTg		autophagy related 2A		G	LEU/SER	0,4400		0,0,2200	30	33	32		5621	3.8	0.1	11		32	1,8583		0,1,4291	no	missense	ATG2A	NM_015104.2	145	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1874/1939	64662641	1,12983	2200	4292	6492	SO:0001583	missense	23130						protein binding	g.chr11:64662641G>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.5621C>T	11.37:g.64662641G>A	ENSP00000366475:p.Ser1874Leu					ATG2A_ENST00000377264.3_Missense_Mutation_p.S1874L	p.S1876L			Q2TAZ0	ATG2A_HUMAN			41	5741	-			1874					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5627C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022483	0.54683	0.0	1.16E-4	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.07327	3.2;3.2	3.83	3.83	0.44106	Autophagy-related, C-terminal (1);	0.074853	0.53938	D	0.000047	T	0.08980	0.0222	L	0.32530	0.975	0.47308	D	0.99938	P;P	0.49862	0.929;0.912	P;B	0.45037	0.467;0.336	T	0.31475	-0.9942	10	0.31617	T	0.26	.	13.627	0.62170	0.0:0.0:1.0:0.0	.	1874;1876	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1876;267;1874	ENSP00000410522:S1876L;ENSP00000366475:S1874L	ENSP00000366473:S267L	S	-	2	0	ATG2A	64419217	1.000000	0.71417	0.103000	0.21229	0.389000	0.30415	9.096000	0.94182	2.144000	0.66660	0.561000	0.74099	TCG		0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		65	323	0	0	0	1	0	65	323					A	64662641	G	A	64662641	3	1	79	1	0	0	0	0	1	0	0	0	1094	1059	37	1	199	1	ATG2A	11	64662641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20738	64662641	70343875	12267	22584											
ATG2A	23130	broad.mit.edu	37	chr11	64669563	64669563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctgccagcagggcccccGacaggtggtgaagggggtgg	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000377264.3	-	29	4102	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_ENST00000421419.2_Silent_p.V1332V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1330					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)				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						CAGGGCCCCCGACAGGTGGTG	0.612																																						ENST00000421419.2																			0				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						c.(3994-3996)gtC>gtT		autophagy related 2A							87	92	90					11																	64669563		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64669563G>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.3990C>T	11.37:g.64669563G>A						ATG2A_ENST00000377264.3_Silent_p.V1330V	p.V1332V			Q2TAZ0	ATG2A_HUMAN			29	4110	-			1330					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.3996C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455658	0.01071	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.39	-3.62	0.04543	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	6.4286	0.21784	0.4439:0.1355:0.4205:0.0	.	.	.	.	W	1134	.	.	R	-	1	2	ATG2A	64426139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.686000	0.05170	0.563000	0.77884	CGG		0.612	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		106	504	0	0	0	1	0	106	504					A	64669563	G	A	64669563	2	1	79	1	0	0	0	0	0	0	0	1	1094	1045	37	1		1	ATG2A	11	64669563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6922	64669563	70336953	12268	22585											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695588	64695588	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagcccagacttccagccCtccgtggccaagagatatgt	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	183					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(547-549)ccC>ccA		protein phosphatase 2, regulatory subunit B', beta							144	134	138					11																	64695588		2201	4297	6498	SO:0001819	synonymous_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695588C>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.549C>A	11.37:g.64695588C>A							p.P183P	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			5	1171	+			183					Q13853	Silent	SNP	ENST00000164133.2	37	c.549C>A	CCDS8085.1																																																																																				0.557	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		85	438	1	0	8.34767e-46	1	1.02437e-45	85	438					A	64695588	C	A	64695588	2	1	79	1	0	0	0	0	0	0	0	1	12440	668	24	3		3	PPP2R5B	11	64695588	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26025	64695588	70310928	12269	22586											
SNX15	29907	broad.mit.edu	37	chr11	64803116	64803116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggctgagcttgccctcttCgaccccttctccaaggaagg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.F215F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	215					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(643-645)ttC>ttT		sorting nexin 15							69	70	69					11																	64803116		2201	4297	6498	SO:0001819	synonymous_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64803116C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.645C>T	11.37:g.64803116C>T						SNX15_ENST00000301886.3_3'UTR	p.F215F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			6	775	+			215					E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	c.645C>T	CCDS8089.1																																																																																				0.647	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			119	482	0	0	0	1	0	119	482					T	64803116	C	T	64803116	2	4	79	1	0	0	0	0	0	0	0	1	14936	883	31	1		1	SNX15	11	64803116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107528	64803116	70203400	12270	22587											
NAALADL1	10004	broad.mit.edu	37	chr11	64825602	64825602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggacagcagcacttcGtacgtggaggcctcggccga	16	11	0	0	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000358658.3	-	2	333	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(304-306)taC>taT		N-acetylated alpha-linked acidic dipeptidase-like 1		G		2,4400	4.2+/-10.8	0,2,2199	43	40	41		306	-2.2	0.1	11	dbSNP_134	41	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,2,6496	AA,AG,GG		0.0,0.0454,0.0154		102/741	64825602	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825602G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.306C>T	11.37:g.64825602G>A						NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y	p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			2	333	-			102					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.306C>T	CCDS31604.1																																																																																				0.667	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		91	308	0	0	0	1	0	91	308					A	64825602	G	A	64825602	2	1	79	1	0	0	0	0	0	0	0	1	10170	1140	40	1		1	NAALADL1	11	64825602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22486	64825602	70180914	12271	22588											
CDCA5	113130	broad.mit.edu	37	chr11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagagtcatgtctggggCccagggctttgcacaaaccc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	200					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(598-600)Gcc>Acc		cell division cycle associated 5							69	77	75					11																	64846905		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846905C>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.598G>A	11.37:g.64846905C>T	ENSP00000275517:p.Ala200Thr					CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	770	-			200					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.598G>A	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661948	0.47572	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.43688	0.94;0.94	5.29	-0.127	0.13510	.	0.451135	0.23805	N	0.044381	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.19582	-1.0301	10	0.33141	T	0.24	.	9.3783	0.38297	0.0:0.5908:0.0:0.4092	.	200	Q96FF9	CDCA5_HUMAN	T	200	ENSP00000275517:A200T;ENSP00000385711:A200T	ENSP00000275517:A200T	A	-	1	0	CDCA5	64603481	0.172000	0.23043	0.032000	0.17829	0.676000	0.39594	0.288000	0.18939	-0.032000	0.13758	-0.151000	0.13558	GCC		0.577	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		75	297	0	0	0	1	0	75	297					T	64846905	C	T	64846905	3	4	79	1	0	0	0	0	1	0	0	0	3098	739	26	2	168	2	CDCA5	11	64846905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21303	64846905	70159611	12272	22589											
CDCA5	113130	broad.mit.edu	37	chr11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagaggcagagcccaggGtctccagccggctgtaggaa	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	151					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(451-453)aCc>aTc		cell division cycle associated 5							31	34	33					11																	64847051		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847051G>A	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.452C>T	11.37:g.64847051G>A	ENSP00000275517:p.Thr151Ile					CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	624	-			151					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.452C>T	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959397	0.34565	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.45668	0.89;0.89	4.89	-2.52	0.06346	.	1.143710	0.06283	N	0.697788	T	0.44329	0.1288	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.39590	0.304	T	0.55101	-0.8193	10	0.59425	D	0.04	.	11.5239	0.50569	0.0:0.4348:0.4424:0.1228	.	151	Q96FF9	CDCA5_HUMAN	I	151	ENSP00000275517:T151I;ENSP00000385711:T151I	ENSP00000275517:T151I	T	-	2	0	CDCA5	64603627	0.058000	0.20735	0.000000	0.03702	0.356000	0.29392	0.335000	0.19806	-0.186000	0.10533	0.650000	0.86243	ACC		0.632	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		40	162	0	0	0	1	0	40	162					A	64847051	G	A	64847051	3	1	79	1	0	0	0	0	1	0	0	0	3098	1261	44	2	314	2	CDCA5	11	64847051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	64847051	70159465	12273	22590											
ZFPL1	7542	broad.mit.edu	37	chr11	64855532	64855532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggccgcagctgacagCgatcccaacctggacccact	12	17	0	1	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	293					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(877-879)agC>agT		zinc finger protein-like 1		C		0,4402		0,0,2201	90	88	89		879	-2.1	1	11	dbSNP_134	89	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ZFPL1	NM_006782.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		293/311	64855532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855532C>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.879C>T	11.37:g.64855532C>T							p.S293S	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	1031	+			293					A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	c.879C>T	CCDS8092.1																																																																																				0.667	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		134	722	0	0	0	1	0	134	722					T	64855532	C	T	64855532	2	4	79	1	0	0	0	0	0	0	0	1	17709	767	27	1		1	ZFPL1	11	64855532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8481	64855532	70150984	12274	22591											
C11orf2	738	broad.mit.edu	37	chr11	64875903	64875903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgccaggtggcggcGgcctaccaggagctgtttgc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64875903G>A	ENST00000279281.3	+	5	1052	c.960G>A	c.(958-960)gcG>gcA	p.A320A	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	320					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGGTGGCGGCGGCCTACCAGG	0.701																																						ENST00000279281.3																			0											c.(958-960)gcG>gcA		vacuolar protein sorting 51 homolog (S. cerevisiae)							16	21	20					11																	64875903		2190	4288	6478	SO:0001819	synonymous_variant	738							g.chr11:64875903G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.960G>A	11.37:g.64875903G>A						VPS51_ENST00000527646.1_3'UTR	p.A320A	NM_013265.2	NP_037397.2					5	1052	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.960G>A	CCDS8093.1																																																																																				0.701	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		39	194	0	0	0	1	0	39	194					A	64875903	G	A	64875903	2	1	79	1	0	0	0	0	0	0	0	1	1638	1103	39	1		1	C11orf2	11	64875903	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20371	64875903	70130613	12275	22592											
ZNHIT2	741	broad.mit.edu	37	chr11	64884293	64884293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtgcccaggggccccGgcgggtgctcgcctgcttcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64884293G>A	ENST00000310597.4	-	1	877	c.833C>T	c.(832-834)cCg>cTg	p.P278L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	278							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGCCCCGGCGGGTGCTC	0.706																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(832-834)cCg>cTg		zinc finger, HIT-type containing 2							12	15	14					11																	64884293		2179	4259	6438	SO:0001583	missense	741						metal ion binding	g.chr11:64884293G>A		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.833C>T	11.37:g.64884293G>A	ENSP00000308548:p.Pro278Leu						p.P278L	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	877	-			278					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.833C>T	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421075	0.42918	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	T	0.30448	1.53	4.67	4.67	0.58626	.	0.331947	0.27437	U	0.019374	T	0.16342	0.0393	N	0.11560	0.145	0.25447	N	0.988045	P	0.47106	0.89	B	0.37601	0.254	T	0.10776	-1.0615	10	0.31617	T	0.26	-9.9964	15.0938	0.72217	0.0:0.0:1.0:0.0	.	278	Q9UHR6	ZNHI2_HUMAN	L	278;113	ENSP00000308548:P278L	ENSP00000308548:P278L	P	-	2	0	ZNHIT2	64640869	0.042000	0.20092	0.396000	0.26296	0.322000	0.28314	1.537000	0.36083	2.417000	0.82017	0.561000	0.74099	CCG		0.706	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		5	198	0	0	0	1	0	5	198					A	64884293	G	A	64884293	3	1	79	1	0	0	0	0	1	0	0	0	18260	1116	39	1	382	1	ZNHIT2	11	64884293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8390	64884293	70122223	12276	22593											
FAU	740	broad.mit.edu	37	chr11	64889267	64889267	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgtgtagctcctgggCgcggacaaagagctgcatat	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64889267C>T	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529259.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|MRPL49_ENST00000531705.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						AGCTCCTGGGCGCGGACAAAG	0.527																																						ENST00000529259.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(19-21)Gcc>Acc		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed							73	65	68					11																	64889267		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889267C>T		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889267C>T	Exception_encountered					FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T	p.A7T			P35544	UBIM_HUMAN			1	120	-			7					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.19G>A	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282241	0.80692	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.54071	1.16;1.16;0.59;1.16;1.16;1.16;1.16;1.16	5.92	5.92	0.95590	Ubiquitin supergroup (1);Ubiquitin (1);	0.049252	0.85682	D	0.000000	T	0.38241	0.1033	L	0.28649	0.875	0.80722	D	1	B;P	0.36183	0.025;0.542	B;B	0.33568	0.055;0.166	T	0.30001	-0.9993	10	0.02654	T	1	-0.9377	17.8282	0.88672	0.0:1.0:0.0:0.0	.	7;7	E9PMS9;P35544	.;UBIM_HUMAN	T	7	ENSP00000435370:A7T;ENSP00000431822:A7T;ENSP00000436110:A7T;ENSP00000434440:A7T;ENSP00000279259:A7T;ENSP00000434680:A7T;ENSP00000433139:A7T;ENSP00000413848:A7T	ENSP00000279259:A7T	A	-	1	0	FAU	64645843	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.739000	0.68622	2.822000	0.97130	0.650000	0.86243	GCC		0.527	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		34	206	0	0	0	1	0	34	206					T	64889267	C	T	64889267	1	4	79	0	1	0	0	0	0	0	0	0	5719	768	27	1		1	FAU	11	64889267	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4974	64889267	70117249	12277	22594											
SYVN1	84447	broad.mit.edu	37	chr11	64895881	64895881	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaacaggagactccagcttCtgcaggcggcgccggcggag	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000377190.3	-	16	1921	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Silent_p.Q608Q|SYVN1_ENST00000294256.8_Silent_p.Q608Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	609					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCCAGCTTCTGCAGGCGGC	0.637																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1822-1824)caG>caA		synovial apoptosis inhibitor 1, synoviolin							23	29	27					11																	64895881		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64895881C>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1827G>A	11.37:g.64895881C>T						SYVN1_ENST00000294256.8_Silent_p.Q608Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000377190.3_Silent_p.Q609Q	p.Q608Q			Q86TM6	SYVN1_HUMAN			16	2016	-			609					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1824G>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	3.512	-0.099676	0.07010	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-4.48	0.03515	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	5	0.07990	T	0.79	.	12.7242	0.57162	0.0:0.4464:0.0:0.5536	.	.	.	.	K	609	.	ENSP00000412962:R609K	R	-	2	0	SYVN1	64652457	0.000000	0.05858	0.409000	0.26459	0.890000	0.51754	-2.457000	0.01001	-1.770000	0.01295	-1.194000	0.01681	AGA		0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		28	117	0	0	0	1	0	28	117					T	64895881	C	T	64895881	2	4	79	1	0	0	0	0	0	0	0	1	15539	912	32	2		2	SYVN1	11	64895881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	64895881	70110635	12278	22595											
SYVN1	84447	broad.mit.edu	37	chr11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttcaggggctggtgGggaggctcctggggttgggg	20	7	1	0	rs373881281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000377190.3	-	15	1811	c.1717C>A	c.(1717-1719)Cca>Aca	p.P573T	SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.P572T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	573					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCTGGTGGGGAGGCTCCT	0.602																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1714-1716)Cca>Aca		synovial apoptosis inhibitor 1, synoviolin							43	51	48					11																	64896065		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64896065G>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1717C>A	11.37:g.64896065G>T	ENSP00000366395:p.Pro573Thr					SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T|SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P573T	p.P572T			Q86TM6	SYVN1_HUMAN			15	1906	-			573					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1714C>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	g	3.476	-0.106889	0.06924	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	T;T;T;T	0.08896	3.04;3.05;3.22;3.05	4.73	0.831	0.18860	.	0.817568	0.11036	N	0.606679	T	0.05090	0.0136	N	0.19112	0.55	0.31228	N	0.696704	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.24974	0.057;0.057;0.026	T	0.46247	-0.9205	10	0.11182	T	0.66	-0.2177	6.6834	0.23132	0.3835:0.0:0.6165:0.0	.	521;572;573	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	573;572;521;572	ENSP00000366395:P573T;ENSP00000294256:P572T;ENSP00000302035:P521T;ENSP00000436984:P572T	ENSP00000294256:P572T	P	-	1	0	SYVN1	64652641	0.947000	0.32204	0.995000	0.50966	0.684000	0.39900	0.189000	0.17037	0.000000	0.14550	0.550000	0.68814	CCA		0.602	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		18	410	1	0	4.96729e-08	1	5.17613e-08	18	410					T	64896065	G	T	64896065	3	4	79	1	0	0	0	0	1	0	0	0	15539	1232	43	3	144	3	SYVN1	11	64896065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	64896065	70110451	12279	22596											
CAPN1	823	broad.mit.edu	37	chr11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgcagcttcgtgctcGcccttatgcagaagcaccgt	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1264-1266)Gcc>Acc		calpain 1, (mu/I) large subunit							45	54	51					11																	64972252		2072	4203	6275	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972252G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1264G>A	11.37:g.64972252G>A	ENSP00000431984:p.Ala422Thr		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T	p.A422T			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	10	1504	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	422			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1264G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805608	0.96967	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.056434	0.64402	D	0.000002	D	0.92928	0.7750	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	15.0833	0.72130	0.0:0.0:1.0:0.0	.	422	P07384	CAN1_HUMAN	T	422;422;422;422;368;422	ENSP00000435272:A422T;ENSP00000431686:A422T;ENSP00000434176:A422T;ENSP00000279247:A422T;ENSP00000431984:A422T	ENSP00000259755:A368T	A	+	1	0	CAPN1	64728828	1.000000	0.71417	0.888000	0.34837	0.970000	0.65996	9.716000	0.98752	2.232000	0.73038	0.563000	0.77884	GCC		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			78	283	0	0	0	1	0	78	283					A	64972252	G	A	64972252	3	1	79	1	0	0	0	0	1	0	0	0	2629	1087	38	1	1302	1	CAPN1	11	64972252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76187	64972252	70034264	12280	22597											
SLC22A20	823	broad.mit.edu	37	chr11	64981653	64981653	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactcctccatcccgggcGcggccacggagggctgcaag	13	17	0	0	rs371972039	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64981653G>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CATCCCGGGCGCGGCCACGGA	0.682													G|||	5	0.000998403	0.0	0.0	5008	,	,		15156	0.0		0.0	False		,,,				2504	0.0051					ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8										G	THR/ALA	1,3775		0,1,1887	7	8	8		310	-1.4	0	11		8	1,8151		0,1,4075	no	missense	SLC22A20	NM_001004326.4	58	0,2,5962	AA,AG,GG		0.0123,0.0265,0.0168	benign	104/350	64981653	2,11926	1888	4076	5964	SO:0001628	intergenic_variant	0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981653G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981653G>A										A6NK97	S22AK_HUMAN			0	343	+								Q2TTR0|Q6DHV4	RNA	SNP	ENST00000527323.1	37		CCDS44644.1																																																																																				0.682	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			13	41	0	0	0	1	0	13	41					A	64981653	G	A	64981653	1	1	79	0	1	0	0	0	0	0	0	0	14501	1087	38	1		1	SLC22A20	11	64981653	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9401	64981653	70024863	12281	22598											
POLA2	23649	broad.mit.edu	37	chr11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgaatactcaagcacaTcttgacccagaggaggtgag	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.I294T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	502					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1504-1506)aTc>aCc		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						87	81	83					11																	65063055		2201	4297	6498	SO:0001583	missense	23649				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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65063055T>C	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1505T>C	11.37:g.65063055T>C	ENSP00000265465:p.Ile502Thr					POLA2_ENST00000541089.1_Missense_Mutation_p.I294T|POLA2_ENST00000534785.1_3'UTR	p.I502T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			16	2036	+			502					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1505T>C	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091466|4.091466	0.76756|0.76756	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	DNA polymerase alpha/epsilon, subunit B (1);|.	0.088707|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.83774|0.83774	2.66|2.66	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.42556|.	0.629;0.783|.	B;P|.	0.45577|.	0.405;0.486|.	T|T	0.78685|0.78685	-0.2108|-0.2108	10|5	0.72032|.	D|.	0.01|.	-24.0439|-24.0439	12.7672|12.7672	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294;502|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|P	502;294|172	ENSP00000265465:I502T;ENSP00000443222:I294T|.	ENSP00000265465:I502T|.	I|S	+|+	2|1	0|0	POLA2|POLA2	64819631|64819631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.680000|6.680000	0.74518|0.74518	1.911000|1.911000	0.55334|0.55334	0.379000|0.379000	0.24179|0.24179	ATC|TCT		0.488	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		67	324	0	0	0	1	0	67	324					C	65063055	T	C	65063055	3	2	79	1	0	0	0	0	1	0	0	0	12230	1435	50	4	1567	4	POLA2	11	65063055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81402	65063055	69943461	12282	22599											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgccaccgtgtgtgggCgggagctcccggacggccca	16	16	0	0	rs200071372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	94					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17844	0.001		0.0	False		,,,				2504	0.0					ENST00000544348.1																			0				lung(1)	1						c.(280-282)Cgg>Tgg		CDC42 effector protein (Rho GTPase binding) 2							65	66	66					11																	65088649		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088649C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.280C>T	11.37:g.65088649C>T	ENSP00000442534:p.Arg94Trp					CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W	p.R94W			O14613	BORG1_HUMAN			2	886	+			94					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.280C>T	CCDS8099.1	89	0.04075091575091575	24	0.04878048780487805	9	0.024861878453038673	20	0.03496503496503497	36	0.047493403693931395	C	9.404	1.078776	0.20227	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33865	1.39;1.39;1.39	5.06	3.13	0.36017	.	0.647764	0.14384	N	0.322973	T	0.07593	0.0191	L	0.44542	1.39	0.30127	N	0.805174	D	0.56746	0.977	P	0.47206	0.541	T	0.04347	-1.0958	10	0.56958	D	0.05	-23.6747	11.8157	0.52209	0.3186:0.6814:0.0:0.0	.	94	O14613	BORG1_HUMAN	W	94	ENSP00000279249:R94W;ENSP00000431660:R94W;ENSP00000442534:R94W	ENSP00000279249:R94W	R	+	1	2	CDC42EP2	64845225	0.000000	0.05858	0.091000	0.20842	0.289000	0.27227	0.349000	0.20055	0.673000	0.31224	0.467000	0.42956	CGG		0.672	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		44	398	0	0	0	1	0	44	398					T	65088649	C	T	65088649	3	4	79	1	0	0	0	0	1	0	0	0	3085	759	27	1	282	1	CDC42EP2	11	65088649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25594	65088649	69917867	12283	22600											
DPF2	5977	broad.mit.edu	37	chr11	65113213	65113213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggctgaggaggagggCgaggacaaggaagactctca	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000528416.1	+	7	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	238					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(712-714)ggC>ggT		D4, zinc and double PHD fingers family 2							74	67	70					11																	65113213		2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113213C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.714C>T	11.37:g.65113213C>T						DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000415073.2_Intron	p.G238G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			7	847	+			238					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.714C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	c	8.255	0.809838	0.16537	.	.	ENSG00000133884	ENST00000531989	D	0.91068	-2.78	5.24	-10.2	0.00374	.	.	.	.	.	D	0.91016	0.7174	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91055	0.4881	6	0.87932	D	0	-24.6152	13.2977	0.60307	0.0867:0.1833:0.0:0.7299	.	.	.	.	V	1	ENSP00000435887:A1V	ENSP00000435887:A1V	A	+	2	0	DPF2	64869789	0.000000	0.05858	0.034000	0.17996	0.673000	0.39480	-4.528000	0.00220	-2.294000	0.00663	-1.982000	0.00454	GCG		0.527	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		60	255	0	0	0	1	0	60	255					T	65113213	C	T	65113213	2	4	79	1	0	0	0	0	0	0	0	1	4733	755	27	1		1	DPF2	11	65113213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24564	65113213	69893303	12284	22601											
DPF2	5977	broad.mit.edu	37	chr11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcttgcctccaatttaCccccgtgatgatggcggcag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000528416.1	+	9	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_ENST00000252268.4_Missense_Mutation_p.T324I|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	310					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(928-930)aCc>aTc		D4, zinc and double PHD fingers family 2							142	108	120					11																	65113742		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113742C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.929C>T	11.37:g.65113742C>T	ENSP00000436901:p.Thr310Ile					DPF2_ENST00000252268.4_Missense_Mutation_p.T324I|DPF2_ENST00000415073.2_Intron	p.T310I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			9	1062	+			310					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.929C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048325	0.93740	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90955	-2.75;-2.76	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001563	D	0.96367	0.8815	M	0.90977	3.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.96952	0.9695	10	0.87932	D	0	-22.942	17.1512	0.86778	0.0:1.0:0.0:0.0	.	310	Q92785	REQU_HUMAN	I	310;324	ENSP00000436901:T310I;ENSP00000252268:T324I	ENSP00000252268:T324I	T	+	2	0	DPF2	64870318	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.701000	0.84566	2.667000	0.90743	0.561000	0.74099	ACC		0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		47	210	0	0	0	1	0	47	210					T	65113742	C	T	65113742	3	4	79	1	0	0	0	0	1	0	0	0	4733	507	18	2	963	2	DPF2	11	65113742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	65113742	69892774	12285	22602											
DPF2	5977	broad.mit.edu	37	chr11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtgaagacataccGctggcagtgcatcgagtgca	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000528416.1	+	9	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_ENST00000252268.4_Missense_Mutation_p.R335H|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	321					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(961-963)cGc>cAc		D4, zinc and double PHD fingers family 2							153	114	128					11																	65113775		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113775G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.962G>A	11.37:g.65113775G>A	ENSP00000436901:p.Arg321His					DPF2_ENST00000252268.4_Missense_Mutation_p.R335H|DPF2_ENST00000415073.2_Intron	p.R321H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			9	1095	+			321					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.962G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825531	0.96996	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.92805	0.7712	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.63033	0.91	D	0.93216	0.6604	10	0.66056	D	0.02	-20.6648	17.1512	0.86778	0.0:0.0:1.0:0.0	.	321	Q92785	REQU_HUMAN	H	321;335	ENSP00000436901:R321H;ENSP00000252268:R335H	ENSP00000252268:R335H	R	+	2	0	DPF2	64870351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.607000	0.74163	2.667000	0.90743	0.561000	0.74099	CGC		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		49	209	0	0	0	1	0	49	209					A	65113775	G	A	65113775	3	1	79	1	0	0	0	0	1	0	0	0	4733	1087	38	1	996	1	DPF2	11	65113775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	65113775	69892741	12286	22603											
SLC25A45	283130	broad.mit.edu	37	chr11	65144076	65144076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccgggacttgatcatGtctaagggcgtggctgccac	13	11	2	1	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000527174.1	-	6	724	c.669C>T	c.(667-669)gaC>gaT	p.D223D	SLC25A45_ENST00000417511.2_Silent_p.D181D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000398802.1_Silent_p.D223D|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	223					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACTTGATCATGTCTAAGGGCG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.0					ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(541-543)gaC>gaT		solute carrier family 25, member 45							79	83	82					11																	65144076		2149	4247	6396	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144076G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.669C>T	11.37:g.65144076G>A						SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000527174.1_Silent_p.D223D	p.D181D	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1677	-			223					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.543C>T	CCDS41670.1																																																																																				0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		18	438	0	0	0	1	0	18	438					A	65144076	G	A	65144076	2	1	79	1	0	0	0	0	0	0	0	1	14560	1368	48	2		2	SLC25A45	11	65144076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30301	65144076	69862440	12287	22604											
FRMD8	83786	broad.mit.edu	37	chr11	65156957	65156957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcttccagacatcGccctggatgtcttcgcgctc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	ENST00000317568.5	+	3	374	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TCCAGACATCGCCCTGGATGT	0.647																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(211-213)Gcc>Acc		FERM domain containing 8							57	40	46					11																	65156957		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65156957G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.211G>A	11.37:g.65156957G>A	ENSP00000319726:p.Ala71Thr					FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	p.A71T	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			3	374	+			71			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.211G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689184	0.68271	.	.	ENSG00000126391	ENST00000317568;ENST00000416776;ENST00000526201;ENST00000525156	D;D	0.85773	-1.86;-2.03	5.11	5.11	0.69529	Band 4.1 domain (1);FERM domain (1);	0.123969	0.52532	D	0.000061	D	0.91948	0.7450	M	0.81497	2.545	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.71656	0.955;0.974	D	0.91702	0.5374	10	0.41790	T	0.15	-5.9838	16.0501	0.80755	0.0:0.0:1.0:0.0	.	71;71	B4E2P1;Q9BZ67	.;FRMD8_HUMAN	T	71;71;63;71	ENSP00000319726:A71T;ENSP00000392111:A71T	ENSP00000319726:A71T	A	+	1	0	FRMD8	64913533	1.000000	0.71417	0.498000	0.27564	0.083000	0.17756	5.954000	0.70298	2.375000	0.81037	0.561000	0.74099	GCC		0.647	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		36	111	0	0	0	1	0	36	111					A	65156957	G	A	65156957	3	1	79	1	0	0	0	0	1	0	0	0	6083	1087	38	1	217	1	FRMD8	11	65156957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12881	65156957	69849559	12288	22605											
FRMD8	83786	broad.mit.edu	37	chr11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcgaactgagccaggCggcggagcccgcaggccccc	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	374	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(1120-1122)gCg>gTg		FERM domain containing 8							31	34	33					11																	65172384		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65172384C>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1121C>T	11.37:g.65172384C>T	ENSP00000319726:p.Ala374Val					FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	p.A374V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			10	1284	+			374			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.1121C>T	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837694	0.16891	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83506	-1.73;-1.14;-1.73	5.09	4.17	0.49024	FERM domain (1);	0.730035	0.12832	N	0.435558	T	0.71888	0.3393	N	0.16478	0.41	0.09310	N	1	B;B;B	0.24721	0.002;0.04;0.11	B;B;B	0.17722	0.001;0.019;0.006	T	0.54918	-0.8221	10	0.27785	T	0.31	-0.2797	14.7452	0.69485	0.0:0.9198:0.0:0.0802	.	340;318;374	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	V	374;318;340	ENSP00000319726:A374V;ENSP00000348270:A318V;ENSP00000392111:A340V	ENSP00000319726:A374V	A	+	2	0	FRMD8	64928960	0.940000	0.31905	0.293000	0.24932	0.005000	0.04900	2.398000	0.44486	0.659000	0.30945	-0.797000	0.03246	GCG		0.687	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		46	259	0	0	0	1	0	46	259					T	65172384	C	T	65172384	3	4	79	1	0	0	0	0	1	0	0	0	6083	768	27	1	1155	1	FRMD8	11	65172384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15427	65172384	69834132	12289	22606											
SCYL1	57410	broad.mit.edu	37	chr11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaccttgacgagccaacaGtcaacacccagatcttcccc	6	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000270176.5	+	9	1230	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000524944.1_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	385					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1153-1155)Gtc>Ttc		SCY1-like 1 (S. cerevisiae)							107	124	118					11																	65300199		2161	4252	6413	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65300199G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1153G>T	11.37:g.65300199G>T	ENSP00000270176:p.Val385Phe					SCYL1_ENST00000527630.1_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000270176.5_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F	p.V385F			Q96KG9	NTKL_HUMAN			9	1186	+			385					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1153G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689093	0.68271	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.138171	0.47852	D	0.000220	T	0.48960	0.1529	M	0.88241	2.94	0.80722	D	1	B;D;P;B;P	0.60160	0.228;0.987;0.516;0.399;0.774	B;P;B;B;B	0.61397	0.15;0.888;0.373;0.287;0.271	T	0.61118	-0.7127	10	0.87932	D	0	-11.1604	14.353	0.66716	0.0:0.0:1.0:0.0	.	385;385;385;385;385	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	F	385;385;385;385;385;385;385;385;242	ENSP00000270176:V385F;ENSP00000431635:V385F;ENSP00000408192:V385F;ENSP00000437254:V385F;ENSP00000433450:V385F;ENSP00000279270:V385F;ENSP00000432175:V385F;ENSP00000436993:V242F	ENSP00000270176:V385F	V	+	1	0	SCYL1	65056775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.470000	0.90399	2.074000	0.62210	0.462000	0.41574	GTC		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		42	194	1	0	8.48111e-28	1	9.83746e-28	42	194					T	65300199	G	T	65300199	3	4	79	1	0	0	0	0	1	0	0	0	13997	1029	36	3	1187	3	SCYL1	11	65300199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127815	65300199	69706317	12290	22607											
SCYL1	57410	broad.mit.edu	37	chr11	65302805	65302805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagggccccatccgctgCaacaccacagtctgcctggg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000270176.5	+	10	1415	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000524944.1_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	446					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1336-1338)tgC>tgT		SCY1-like 1 (S. cerevisiae)							117	124	121					11																	65302805		2160	4253	6413	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302805C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1338C>T	11.37:g.65302805C>T						SCYL1_ENST00000527630.1_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000270176.5_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C	p.C446C			Q96KG9	NTKL_HUMAN			10	1371	+			446					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1338C>T	CCDS41672.1																																																																																				0.602	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		77	509	0	0	0	1	0	77	509					T	65302805	C	T	65302805	2	4	79	1	0	0	0	0	0	0	0	1	13997	718	25	2		2	SCYL1	11	65302805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2606	65302805	69703711	12291	22608											
SCYL1	57410	broad.mit.edu	37	chr11	65304578	65304578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgacagatgggacgaCgaagactggggcagcctgga	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000270176.5	+	14	2015	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000524944.1_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	646					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1936-1938)gaC>gaT		SCY1-like 1 (S. cerevisiae)							67	83	78					11																	65304578		2127	4244	6371	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304578C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1938C>T	11.37:g.65304578C>T						SCYL1_ENST00000527630.1_Intron|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000270176.5_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D	p.D646D			Q96KG9	NTKL_HUMAN			14	1971	+			646					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1938C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380844	0.05000	.	.	ENSG00000142186	ENST00000417543	.	.	.	5.15	-9.27	0.00659	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60378	-0.7275	5	0.40728	T	0.16	-4.8276	6.8351	0.23931	0.1907:0.3926:0.0:0.4168	.	.	.	.	M	331	.	ENSP00000393598:T331M	T	+	2	0	SCYL1	65061154	0.000000	0.05858	0.054000	0.19295	0.339000	0.28857	-4.035000	0.00309	-1.521000	0.01771	-1.384000	0.01168	ACG		0.642	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		34	231	0	0	0	1	0	34	231					T	65304578	C	T	65304578	2	4	79	1	0	0	0	0	0	0	0	1	13997	535	19	1		1	SCYL1	11	65304578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1773	65304578	69701938	12292	22609											
LTBP3	4054	broad.mit.edu	37	chr11	65308385	65308385	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgatgttgttgtcctgGgtgtagccctttccgtctgg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	ENST00000301873.5	-	21	3202	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000532932.1_Silent_p.T408T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	978					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGTCCTGGGTGTAGCCCT	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2932-2934)acC>acA		latent transforming growth factor beta binding protein 3							128	112	118					11																	65308385		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308385G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2934C>A	11.37:g.65308385G>T			OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000530785.1_5'UTR	p.T978T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			21	3202	-			978					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2934C>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469160	0.26423	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.45	2.47	0.30058	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	.	2.5657	0.04783	0.1095:0.1875:0.5105:0.1926	.	.	.	.	T	629	.	.	P	-	1	0	LTBP3	65064961	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.141000	0.16076	0.280000	0.22209	0.455000	0.32223	CCA		0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		18	102	1	0	6.33239e-15	1	6.89894e-15	18	102					T	65308385	G	T	65308385	2	4	79	1	0	0	0	0	0	0	0	1	9113	1219	43	3		3	LTBP3	11	65308385	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3807	65308385	69698131	12293	22610											
PCNXL3	399909	broad.mit.edu	37	chr11	65392409	65392409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagctgccaccagcccGctcacggcagtcttcagcct	8	19	3	0	rs370523828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	947						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16273	0.001		0.0	False		,,,				2504	0.0					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(2839-2841)ccG>ccA		pecanex-like 3 (Drosophila)		G		1,4173		0,1,2086	18	21	20		2841	-10.1	0.3	11		20	0,8422		0,0,4211	no	coding-synonymous	PCNXL3	NM_032223.2		0,1,6297	AA,AG,GG		0.0,0.024,0.0079		947/2035	65392409	1,12595	2087	4211	6298	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65392409G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2841G>A	11.37:g.65392409G>A							p.P947P	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			16	3380	+			947					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.2841G>A	CCDS44650.1																																																																																				0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		27	87	0	0	0	1	0	27	87					A	65392409	G	A	65392409	2	1	79	1	0	0	0	0	0	0	0	1	11635	1074	38	1		1	PCNXL3	11	65392409	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84024	65392409	69614107	12294	22611											
PCNXL3	399909	broad.mit.edu	37	chr11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccactttgactacccgcGcctctcccagggctttctgc	7	18	2	1	rs372127582	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1216						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.0041					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3646-3648)cGc>cAc		pecanex-like 3 (Drosophila)		G	HIS/ARG	0,4100		0,0,2050	175	174	174		3647	5.5	1	11		174	1,8367		0,1,4183	no	missense	PCNXL3	NM_032223.2	29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	benign	1216/2035	65394998	1,12467	2050	4184	6234	SO:0001583	missense	399909					integral to membrane		g.chr11:65394998G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3647G>A	11.37:g.65394998G>A	ENSP00000347931:p.Arg1216His						p.R1216H	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			22	4186	+			1216					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3647G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725067	0.48833	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.06528	3.29	5.47	5.47	0.80525	.	0.181068	0.47455	D	0.000239	T	0.02533	0.0077	N	0.00926	-1.1	0.29813	N	0.831469	B;B	0.16166	0.005;0.016	B;B	0.11329	0.006;0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	17.22	0.86955	0.0:0.0:1.0:0.0	.	103;1216	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1216	ENSP00000347931:R1216H	ENSP00000347931:R1216H	R	+	2	0	PCNXL3	65151574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.735000	0.93741	0.655000	0.94253	CGC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		176	746	0	0	0	1	0	176	746					A	65394998	G	A	65394998	3	1	79	1	0	0	0	0	1	0	0	0	11635	1087	38	1	3733	1	PCNXL3	11	65394998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	65394998	69611518	12295	22612											
SIPA1	6494	broad.mit.edu	37	chr11	65408725	65408725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccttcccaccagtgctTgagcctcgatggtttgccca	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000394224.3	+	2	629	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	111					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(331-333)ctT>ctC		signal-induced proliferation-associated 1							79	80	80					11																	65408725		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408725T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.333T>C	11.37:g.65408725T>C						SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L	p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	629	+			111					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.333T>C	CCDS8108.1																																																																																				0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		26	740	0	0	0	1	0	26	740					C	65408725	T	C	65408725	2	2	79	1	0	0	0	0	0	0	0	1	14378	1799	63	4		4	SIPA1	11	65408725	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13727	65408725	69597791	12296	22613											
SIPA1	6494	broad.mit.edu	37	chr11	65408899	65408899	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggctttgtgtgtgagctCgggggtgagggtgagctagg	20	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000394224.3	+	2	803	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	169					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(505-507)ctC>ctT		signal-induced proliferation-associated 1							56	61	59					11																	65408899		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408899C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.507C>T	11.37:g.65408899C>T						SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L	p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	803	+			169					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.507C>T	CCDS8108.1																																																																																				0.677	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		46	401	0	0	0	1	0	46	401					T	65408899	C	T	65408899	2	4	79	1	0	0	0	0	0	0	0	1	14378	871	31	1		1	SIPA1	11	65408899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	65408899	69597617	12297	22614											
SIPA1	6494	broad.mit.edu	37	chr11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaggcctgggtggaccagCatccccacctgtgccccctg	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000394224.3	+	2	838	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	181					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(541-543)gCa>gTa		signal-induced proliferation-associated 1							52	54	53					11																	65408934		2200	4297	6497	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408934C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.542C>T	11.37:g.65408934C>T	ENSP00000377771:p.Ala181Val					SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V	p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	838	+			181					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.542C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	2.543	-0.305860	0.05458	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.25	-0.778	0.10977	.	1.407170	0.05508	N	0.559664	T	0.53610	0.1807	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44590	-0.9318	10	0.28530	T	0.3	-4.0933	8.0908	0.30799	0.0:0.3711:0.0:0.6289	.	181;181	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	181	ENSP00000436269:A181V;ENSP00000433686:A181V;ENSP00000377771:A181V;ENSP00000377774:A181V	ENSP00000377771:A181V	A	+	2	0	SIPA1	65165510	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.035000	0.13797	-0.239000	0.09710	-0.300000	0.09419	GCA		0.672	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		56	282	0	0	0	1	0	56	282					T	65408934	C	T	65408934	3	4	79	1	0	0	0	0	1	0	0	0	14378	710	25	2	544	2	SIPA1	11	65408934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	65408934	69597582	12298	22615											
SIPA1	6494	broad.mit.edu	37	chr11	65408968	65408968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgcactgcccaacgcGgccgtgtccatcctggagga	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000394224.3	+	2	872	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	192					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(574-576)gcG>gcA		signal-induced proliferation-associated 1							37	37	37					11																	65408968		2201	4296	6497	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408968G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.576G>A	11.37:g.65408968G>A						SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A	p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	872	+			192					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.576G>A	CCDS8108.1																																																																																				0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		54	214	0	0	0	1	0	54	214					A	65408968	G	A	65408968	2	1	79	1	0	0	0	0	0	0	0	1	14378	1103	39	1		1	SIPA1	11	65408968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	65408968	69597548	12299	22616											
SIPA1	6494	broad.mit.edu	37	chr11	65416876	65416876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcaagatggtggcaGtcctccagggcctggggatc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	ENST00000394224.3	+	10	2746	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	817					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GATGGTGGCAGTCCTCCAGGG	0.652																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2449-2451)aGt>aTt		signal-induced proliferation-associated 1							39	33	35					11																	65416876		2192	4291	6483	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65416876G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2450G>T	11.37:g.65416876G>T	ENSP00000377771:p.Ser817Ile					SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I	p.S817I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			10	2746	+			817					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2450G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739776	0.15642	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.77	1.55	0.23275	.	1.699950	0.04268	U	0.341457	T	0.67933	0.2946	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55431	-0.8142	10	0.33141	T	0.24	0.2005	7.1605	0.25661	0.0:0.1686:0.4841:0.3473	.	715;817	F6RY50;Q96FS4	.;SIPA1_HUMAN	I	817;715;817;715	ENSP00000436269:S817I;ENSP00000433686:S715I;ENSP00000377771:S817I;ENSP00000377774:S715I	ENSP00000377771:S817I	S	+	2	0	SIPA1	65173452	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.667000	0.25112	0.517000	0.28361	0.462000	0.41574	AGT		0.652	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	48	1	0	0.00829132	1	0.00834067	10	48					T	65416876	G	T	65416876	3	4	79	1	0	0	0	0	1	0	0	0	14378	1029	36	3	2484	3	SIPA1	11	65416876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7908	65416876	69589640	12300	22617											
SIPA1	6494	broad.mit.edu	37	chr11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatctggccgaggagaggaCtgagttcctgcacagccaga	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000394224.3	+	10	2782	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	829					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2485-2487)aCt>aAt		signal-induced proliferation-associated 1							48	42	44					11																	65416912		2199	4292	6491	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65416912C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2486C>A	11.37:g.65416912C>A	ENSP00000377771:p.Thr829Asn					SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N	p.T829N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			10	2782	+			829					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2486C>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155263	0.38021	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82893	-1.66;-1.65;-1.66;-1.65	4.63	4.63	0.57726	.	0.420510	0.18841	U	0.129695	D	0.84745	0.5540	L	0.32530	0.975	0.25394	N	0.988508	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.74867	-0.3518	10	0.19590	T	0.45	-14.4206	13.3654	0.60680	0.0:1.0:0.0:0.0	.	727;829	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	829;727;829;727	ENSP00000436269:T829N;ENSP00000433686:T727N;ENSP00000377771:T829N;ENSP00000377774:T727N	ENSP00000377771:T829N	T	+	2	0	SIPA1	65173488	0.994000	0.37717	0.932000	0.37286	0.428000	0.31595	4.182000	0.58310	2.283000	0.76528	0.462000	0.41574	ACT		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		16	68	1	0	1.5739e-10	1	1.67034e-10	16	68					A	65416912	C	A	65416912	3	1	79	1	0	0	0	0	1	0	0	0	14378	565	20	3	2520	3	SIPA1	11	65416912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	65416912	69589604	12301	22618											
RELA	5970	broad.mit.edu	37	chr11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgcgggaaggcacaGcaatgcgtcgaggtggaggc	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000406246.3	-	10	1256	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000525693.1_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	332					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(994-996)gCt>gAt		v-rel avian reticuloendotheliosis viral oncogene homolog A							91	87	88					11																	65423197		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65423197G>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.995C>A	11.37:g.65423197G>T	ENSP00000384273:p.Ala332Asp					RELA_ENST00000406246.3_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D	p.A332D			Q04206	TF65_HUMAN			10	1057	-			332					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.995C>A	CCDS31609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.479028|4.479028	0.84747|0.84747	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.308394|.	0.29900|.	N|.	0.010905|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.61703|0.61703	1.905|1.905	0.38713|0.38713	D|D	0.953263|0.953263	P;D;D;D;P;P|.	0.64830|.	0.867;0.994;0.982;0.97;0.882;0.86|.	B;P;P;P;P;B|.	0.57425|.	0.372;0.737;0.82;0.665;0.554;0.285|.	T|T	0.67719|0.67719	-0.5598|-0.5598	10|5	0.27785|.	T|.	0.31|.	-8.8835|-8.8835	12.9567|12.9567	0.58432|0.58432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	322;319;329;332;343;332|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	D|M	332;332;329;343;343|66	ENSP00000384273:A332D;ENSP00000432537:A332D;ENSP00000311508:A329D;ENSP00000433526:A343D|.	ENSP00000311508:A329D|.	A|L	-|-	2|1	0|2	RELA|RELA	65179773|65179773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.691000|4.691000	0.61738|0.61738	2.125000|2.125000	0.65367|0.65367	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		51	263	1	0	1.38909e-20	1	1.55765e-20	51	263					T	65423197	G	T	65423197	3	4	79	1	0	0	0	0	1	0	0	0	13266	971	34	3	668	3	RELA	11	65423197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6285	65423197	69583319	12302	22619											
KAT5	10524	broad.mit.edu	37	chr11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaggacggaagcgaaaatCgaattgtttgggcactgatg	14	7	0	1	rs529240661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000377046.3	+	7	841	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000341318.4_Missense_Mutation_p.S223L	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	190					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.001					ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(667-669)tCg>tTg		K(lysine) acetyltransferase 5							34	28	30					11																	65481297		2200	4293	6493	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481297C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.569C>T	11.37:g.65481297C>T	ENSP00000366245:p.Ser190Leu					KAT5_ENST00000377046.3_Missense_Mutation_p.S190L|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000534650.1_5'UTR	p.S223L	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			6	902	+			190					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.668C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175512	0.38413	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.44482	0.93;0.98;0.92;0.99;0.96;0.94	5.28	5.28	0.74379	.	0.258670	0.32147	N	0.006507	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26975	0.002;0.005;0.165;0.002	B;B;B;B	0.22152	0.001;0.006;0.038;0.001	T	0.06588	-1.0818	10	0.25751	T	0.34	-8.2286	16.395	0.83601	0.0:1.0:0.0:0.0	.	171;223;138;190	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	190;138;223;171;132;184	ENSP00000366245:S190L;ENSP00000344955:S138L;ENSP00000340330:S223L;ENSP00000434765:S171L;ENSP00000436000:S132L;ENSP00000436012:S184L	ENSP00000340330:S223L	S	+	2	0	KAT5	65237873	0.999000	0.42202	0.981000	0.43875	0.944000	0.59088	5.434000	0.66526	2.472000	0.83506	0.561000	0.74099	TCG		0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		14	66	0	0	0	1	0	14	66					T	65481297	C	T	65481297	3	4	79	1	0	0	0	0	1	0	0	0	8013	893	31	1	690	1	KAT5	11	65481297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58100	65481297	69525219	12303	22620											
OVOL1	5017	broad.mit.edu	37	chr11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctccccacaggcgtgcGgccctacaagtgcagcctgt	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	172					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(514-516)cGg>cAg		ovo-like zinc finger 1							46	39	41					11																	65562523		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562523G>A	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.515G>A	11.37:g.65562523G>A	ENSP00000337862:p.Arg172Gln					OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	p.R172Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	4	867	+			172					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.515G>A	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313980	0.95655	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.19806	2.12;2.12	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086427	0.47852	N	0.000209	T	0.44519	0.1297	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42050	-0.9474	10	0.87932	D	0	-40.47	15.5686	0.76313	0.0:0.0:1.0:0.0	.	172	O14753	OVOL1_HUMAN	Q	172;110	ENSP00000337862:R172Q;ENSP00000434220:R110Q	ENSP00000337862:R172Q	R	+	2	0	OVOL1	65319099	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.787000	0.99055	2.266000	0.75297	0.561000	0.74099	CGG		0.607	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		35	123	0	0	0	1	0	35	123					A	65562523	G	A	65562523	3	1	79	1	0	0	0	0	1	0	0	0	11368	1116	39	1	529	1	OVOL1	11	65562523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81226	65562523	69443993	12304	22621											
SNX32	254122	broad.mit.edu	37	chr11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacttcaagtcccgccGggtctcctcttttcgaaaga	9	13	3	1	rs138424932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	366					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AAGTCCCGCCGGGTCTCCTCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14681	0.0		0.0	False		,,,				2504	0.001					ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1096-1098)cGg>cAg		sorting nexin 32		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	86	91	89		1097	3.4	0	11	dbSNP_134	89	1,8593		0,1,4296	yes	missense	SNX32	NM_152760.2	43	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	366/404	65620368	2,12994	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620368G>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1097G>A	11.37:g.65620368G>A	ENSP00000310620:p.Arg366Gln						p.R366Q	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	12	1522	+			366					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.1097G>A	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886891	0.91814	2.27E-4	1.16E-4	ENSG00000172803	ENST00000308342	T	0.41400	1.0	4.31	3.4	0.38934	.	0.337367	0.21484	N	0.073800	T	0.60971	0.2310	M	0.82193	2.58	0.34384	D	0.693416	D	0.69078	0.997	P	0.61477	0.889	T	0.74000	-0.3805	10	0.87932	D	0	-4.7579	9.9529	0.41649	0.0999:0.0:0.9001:0.0	.	366	Q86XE0	SNX32_HUMAN	Q	366	ENSP00000310620:R366Q	ENSP00000310620:R366Q	R	+	2	0	SNX32	65376944	1.000000	0.71417	0.045000	0.18777	0.981000	0.71138	6.924000	0.75823	1.045000	0.40225	0.561000	0.74099	CGG		0.637	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		113	553	0	0	0	1	0	113	553					A	65620368	G	A	65620368	3	1	79	1	0	0	0	0	1	0	0	0	14952	1116	39	1	1143	1	SNX32	11	65620368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57845	65620368	69386148	12305	22622											
MUS81	80198	broad.mit.edu	37	chr11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagtcagaaggcctgAgcttgctgaatgtgggcatc	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	223	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(667-669)Agc>Cgc	Homologous recombination	MUS81 structure-specific endonuclease subunit							51	52	52					11																	65630597		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630597A>C		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.667A>C	11.37:g.65630597A>C	ENSP00000307853:p.Ser223Arg					MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	p.S223R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	1016	+			223			Interaction with BLM.		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.667A>C	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.51|14.51	2.558063|2.558063	0.45590|0.45590	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.14516	.|2.5;2.72	4.78|4.78	-2.22|-2.22	0.06952|0.06952	.|.	.|0.779640	.|0.13225	.|N	.|0.404068	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.24006	.|0.05	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.13853	.|T	.|0.58	-7.4028|-7.4028	11.6687|11.6687	0.51389|0.51389	0.3839:0.0:0.6161:0.0|0.3839:0.0:0.6161:0.0	.|.	.|223	.|Q96NY9	.|MUS81_HUMAN	A|R	147;118|148;223;223	.|ENSP00000432287:S148R;ENSP00000307853:S223R	.|ENSP00000307853:S223R	E|S	+|+	2|1	0|0	MUS81|MUS81	65387173|65387173	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.669000|0.669000	0.39330|0.39330	0.094000|0.094000	0.15107|0.15107	-0.275000|-0.275000	0.09219|0.09219	0.454000|0.454000	0.30748|0.30748	GAG|AGC		0.622	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		26	271	0	0	0	1	0	26	271					C	65630597	A	C	65630597	3	2	79	1	0	0	0	0	1	0	0	0	10029	304	11	4	693	4	MUS81	11	65630597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10229	65630597	69375919	12306	22623											
MUS81	80198	broad.mit.edu	37	chr11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacattgtggagcgcaagCgactggatgacctttgcagc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	336	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1006-1008)Cga>Tga	Homologous recombination	MUS81 structure-specific endonuclease subunit							101	101	101					11																	65631319		2201	4296	6497	SO:0001587	stop_gained	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65631319C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1006C>T	11.37:g.65631319C>T	ENSP00000307853:p.Arg336*					MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*	p.R336*	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	10	1355	+			336			ERCC4.		Q9H7D9	Nonsense_Mutation	SNP	ENST00000308110.4	37	c.1006C>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.318799|6.318799	0.97471|0.97471	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|.	.|.	.|.	5.95|5.95	4.99|4.99	0.66335|0.66335	.|.	.|0.098845	.|0.64402	.|D	.|0.000003	T|.	0.26882|.	0.0658|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22941|.	-1.0202|.	3|.	.|0.02654	.|T	.|1	-29.869|-29.869	11.4698|11.4698	0.50261|0.50261	0.2847:0.7153:0.0:0.0|0.2847:0.7153:0.0:0.0	.|.	.|.	.|.	.|.	V|X	261;217|261;336;336	.|.	.|ENSP00000307853:R336X	A|R	+|+	2|1	0|2	MUS81|MUS81	65387895|65387895	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.316000|0.316000	0.28119|0.28119	2.299000|2.299000	0.43611|0.43611	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		54	537	0	0	0	1	0	54	537					T	65631319	C	T	65631319	4	4	79	1	0	0	0	0	0	1	0	0	10029	760	27	1	1044	1	MUS81	11	65631319	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	65631319	69375197	12307	22624											
MUS81	80198	broad.mit.edu	37	chr11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaagagcatggttccGtccacaacctcagccttcct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_ENST00000533035.1_Missense_Mutation_p.V299I|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	374					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1120-1122)Gtc>Atc	Homologous recombination	MUS81 structure-specific endonuclease subunit							119	88	99					11																	65632028		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632028G>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1120G>A	11.37:g.65632028G>A	ENSP00000307853:p.Val374Ile					MUS81_ENST00000533035.1_Missense_Mutation_p.V299I	p.V374I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	11	1469	+			374					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1120G>A	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250794|1.250794	0.22880|0.22880	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.21734	.|1.99;1.99	5.91|5.91	1.65|1.65	0.23941|0.23941	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.538442	.|0.20786	.|N	.|0.085704	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	.|B	.|0.33807	.|0.426	.|B	.|0.19666	.|0.026	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.22706	.|T	.|0.39	-1.4659|-1.4659	9.3054|9.3054	0.37872|0.37872	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|374	.|Q96NY9	.|MUS81_HUMAN	H|I	299|299;374;374	.|ENSP00000432287:V299I;ENSP00000307853:V374I	.|ENSP00000307853:V374I	R|V	+|+	2|1	0|0	MUS81|MUS81	65388604|65388604	0.030000|0.030000	0.19436|0.19436	0.000000|0.000000	0.03702|0.03702	0.568000|0.568000	0.35870|0.35870	2.068000|2.068000	0.41471|0.41471	0.052000|0.052000	0.16007|0.16007	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		51	230	0	0	0	1	0	51	230					A	65632028	G	A	65632028	3	1	79	1	0	0	0	0	1	0	0	0	10029	1145	40	1	1162	1	MUS81	11	65632028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	709	65632028	69374488	12308	22625											
EFEMP2	30008	broad.mit.edu	37	chr11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccataggagttgaagcagcGctgctcgcatggggccccca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000307998.6	-	7	876	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	216	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(646-648)Cgc>Tgc		EGF containing fibulin-like extracellular matrix protein 2							90	95	93					11																	65637409		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637409G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.646C>T	11.37:g.65637409G>A	ENSP00000309953:p.Arg216Cys					EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C	p.R216C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	876	-			216			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.646C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.90010	0.6881	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.88	D	0.89846	0.4006	10	0.56958	D	0.05	.	12.1058	0.53811	0.0:0.0:0.8283:0.1716	.	216;216	E9PRU1;O95967	.;FBLN4_HUMAN	C	216	ENSP00000434151:R216C;ENSP00000309953:R216C	ENSP00000309953:R216C	R	-	1	0	EFEMP2	65393985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.489000	0.45285	2.644000	0.89710	0.561000	0.74099	CGC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		118	453	0	0	0	1	0	118	453					A	65637409	G	A	65637409	3	1	79	1	0	0	0	0	1	0	0	0	4958	1087	38	1	705	1	EFEMP2	11	65637409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5381	65637409	69369107	12309	22626											
BANF1	8815	broad.mit.edu	37	chr11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagcccatgggggagaagCcagtggggagcctggctggg	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	EIF1AD_ENST00000529964.1_5'Flank|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|EIF1AD_ENST00000525767.1_5'Flank|EIF1AD_ENST00000533544.1_5'Flank|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000527249.1_5'Flank|EIF1AD_ENST00000526451.1_5'Flank	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	19					DNA integration (GO:0015074)|establishment of integrated proviral latency (GO:0075713)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|response to virus (GO:0009615)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542																																						ENST00000312175.2																			0				large_intestine(2)|prostate(1)	3						c.(55-57)Cca>Aca		barrier to autointegration factor 1							45	46	45					11																	65770776		2201	4293	6494	SO:0001583	missense	8815				initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding	g.chr11:65770776C>A	AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334			17397	protein-coding gene	gene with protein product		603811				9465049	Standard	NM_003860		Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.55C>A	11.37:g.65770776C>A	ENSP00000310275:p.Pro19Thr					BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T	p.P19T	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN			2	563	+			19					O60558|Q6FGG7	Missense_Mutation	SNP	ENST00000312175.2	37	c.55C>A	CCDS8125.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074526	0.76415	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000530204;ENST00000533166;ENST00000527348	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.57	4.57	0.56435	.	0.115747	0.64402	D	0.000013	T	0.55986	0.1955	.	.	.	0.53688	D	0.999979	P	0.35174	0.488	P	0.46850	0.529	T	0.51164	-0.8740	9	0.25106	T	0.35	-0.3442	14.8945	0.70633	0.0:1.0:0.0:0.0	.	19	O75531	BAF_HUMAN	T	19	ENSP00000310275:P19T;ENSP00000416128:P19T;ENSP00000431785:P19T;ENSP00000433760:P19T;ENSP00000432867:P19T	ENSP00000310275:P19T	P	+	1	0	BANF1	65527352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.197000	0.51028	2.381000	0.81170	0.650000	0.86243	CCA		0.542	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391340.1	NM_003860		41	151	1	0	3.38236e-24	1	3.86174e-24	41	151					A	65770776	C	A	65770776	3	1	79	1	0	0	0	0	1	0	0	0	1308	739	26	3	57	3	BANF1	11	65770776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133367	65770776	69235740	12310	22627											
CATSPER1	117144	broad.mit.edu	37	chr11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttctgctgctcctgcTccacgcttgccaccagctgc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	750					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCTCCTGCTCCACGCTTGC	0.652																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2248-2250)gAg>gCg		cation channel, sperm associated 1							49	41	44					11																	65784598		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65784598T>G	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2249A>C	11.37:g.65784598T>G	ENSP00000309052:p.Glu750Ala						p.E750A	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			11	2386	-			750					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.2249A>C	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191042	0.58017	.	.	ENSG00000175294	ENST00000312106	D	0.97870	-4.58	5.39	5.39	0.77823	.	0.000000	0.32578	U	0.005910	D	0.97390	0.9146	L	0.34521	1.04	0.35202	D	0.774331	D	0.76494	0.999	D	0.80764	0.994	D	0.99951	1.1543	10	0.72032	D	0.01	-30.7008	11.8523	0.52417	0.0:0.0:0.0:1.0	.	750	Q8NEC5	CTSR1_HUMAN	A	750	ENSP00000309052:E750A	ENSP00000309052:E750A	E	-	2	0	CATSPER1	65541174	1.000000	0.71417	0.888000	0.34837	0.286000	0.27126	4.556000	0.60775	2.048000	0.60808	0.524000	0.50904	GAG		0.652	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		15	154	0	0	0	1	0	15	154					G	65784598	T	G	65784598	3	3	79	1	0	0	0	0	1	0	0	0	2694	1551	54	4	101	4	CATSPER1	11	65784598	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13822	65784598	69221918	12311	22628											
CATSPER1	117144	broad.mit.edu	37	chr11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcaaagaagtacgagaGgcccagggcgatgatcttga	14	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L504I(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577																																						ENST00000312106.5																			1	Substitution - Missense(1)	p.L504I(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1510-1512)Ctc>Atc		cation channel, sperm associated 1							147	131	137					11																	65789270		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65789270G>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1510C>A	11.37:g.65789270G>T	ENSP00000309052:p.Leu504Ile						p.L504I	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			3	1647	-			504					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1510C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	CATSPER1	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		71	284	1	0	1.63007e-36	1	1.95181e-36	71	284					T	65789270	G	T	65789270	3	4	79	1	0	0	0	0	1	0	0	0	2694	1000	35	3	872	3	CATSPER1	11	65789270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4672	65789270	69217246	12312	22629											
CATSPER1	117144	broad.mit.edu	37	chr11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgaagaagatgaaagtttCaaaggccaaggattgggtca	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	450					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAAGTTTCAAAGGCCAAG	0.537											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1348-1350)Gaa>Aaa		cation channel, sperm associated 1							110	107	108					11																	65790401		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65790401C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1348G>A	11.37:g.65790401C>T	ENSP00000309052:p.Glu450Lys		OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.E450K	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			2	1485	-			450					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1348G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423332	0.83559	.	.	ENSG00000175294	ENST00000312106	D	0.97642	-4.47	5.62	4.71	0.59529	.	0.000000	0.33272	N	0.005097	D	0.95834	0.8644	L	0.47190	1.495	0.28563	N	0.911045	P	0.37573	0.6	P	0.45343	0.477	D	0.92427	0.5950	10	0.44086	T	0.13	-18.6629	11.9808	0.53119	0.1731:0.8269:0.0:0.0	.	450	Q8NEC5	CTSR1_HUMAN	K	450	ENSP00000309052:E450K	ENSP00000309052:E450K	E	-	1	0	CATSPER1	65546977	1.000000	0.71417	0.138000	0.22173	0.034000	0.12701	3.104000	0.50306	1.372000	0.46190	0.563000	0.77884	GAA		0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		32	436	0	0	0	1	0	32	436					T	65790401	C	T	65790401	3	4	79	1	0	0	0	0	1	0	0	0	2694	835	29	2	1038	2	CATSPER1	11	65790401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1131	65790401	69216115	12313	22630											
CATSPER1	117144	broad.mit.edu	37	chr11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataggggaagactcctgtaCgagaagcagcagggccgggg	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1033-1035)cGt>cAt		cation channel, sperm associated 1							120	97	105					11																	65792817		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792817C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1034G>A	11.37:g.65792817C>T	ENSP00000309052:p.Arg345His						p.R345H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1171	-			345					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1034G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		28	273	0	0	0	1	0	28	273					T	65792817	C	T	65792817	3	4	79	1	0	0	0	0	1	0	0	0	2694	536	19	1	1356	1	CATSPER1	11	65792817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2416	65792817	69213699	12314	22631											
CATSPER1	117144	broad.mit.edu	37	chr11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaccttggtggtactcgCtgtgatagtcagatatccca	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	265	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtggtactcgctgtgatagtC	0.577																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(793-795)aGc>aAc		cation channel, sperm associated 1							156	133	141					11																	65793057		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793057C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.794G>A	11.37:g.65793057C>T	ENSP00000309052:p.Ser265Asn						p.S265N	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	931	-			265			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.794G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919916	0.17982	.	.	ENSG00000175294	ENST00000312106	D	0.96716	-4.1	3.21	-3.69	0.04450	.	.	.	.	.	D	0.90738	0.7093	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.80834	-0.1205	9	0.59425	D	0.04	.	1.6208	0.02713	0.134:0.3752:0.1319:0.3588	.	265	Q8NEC5	CTSR1_HUMAN	N	265	ENSP00000309052:S265N	ENSP00000309052:S265N	S	-	2	0	CATSPER1	65549633	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.870000	0.01641	-0.918000	0.03808	0.460000	0.39030	AGC		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		14	74	0	0	0	1	0	14	74					T	65793057	C	T	65793057	3	4	79	1	0	0	0	0	1	0	0	0	2694	797	28	2	1596	2	CATSPER1	11	65793057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	65793057	69213459	12315	22632											
CATSPER1	117144	broad.mit.edu	37	chr11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaattctcaccgagataTtggggtctgccatggtgaga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	153	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCGAGATATTGGGGTCTGC	0.567																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(457-459)caA>caC		cation channel, sperm associated 1							60	53	56					11																	65793392		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793392T>G	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.459A>C	11.37:g.65793392T>G	ENSP00000309052:p.Gln153His						p.Q153H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	596	-			153			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.459A>C	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065727	0.07273	.	.	ENSG00000175294	ENST00000312106	D	0.96774	-4.12	3.04	-4.23	0.03789	.	.	.	.	.	T	0.81631	0.4863	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76647	-0.2882	9	0.13470	T	0.59	.	1.3325	0.02138	0.3008:0.1408:0.4097:0.1487	.	153	Q8NEC5	CTSR1_HUMAN	H	153	ENSP00000309052:Q153H	ENSP00000309052:Q153H	Q	-	3	2	CATSPER1	65549968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.741000	0.04855	-1.075000	0.03129	-0.940000	0.02684	CAA		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		54	235	0	0	0	1	0	54	235					G	65793392	T	G	65793392	3	3	79	1	0	0	0	0	1	0	0	0	2694	1490	52	4	1931	4	CATSPER1	11	65793392	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	335	65793392	69213124	12316	22633											
CATSPER1	117144	broad.mit.edu	37	chr11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggagccagaccaaagcCtgtggggccatgggctctgc	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGACCAAAGCCTGTGGGGCCA	0.602																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(283-285)Ggc>Agc		cation channel, sperm associated 1							145	129	134					11																	65793568		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793568C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.283G>A	11.37:g.65793568C>T	ENSP00000309052:p.Gly95Ser						p.G95S	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	420	-			95			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.283G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585676	0.13749	.	.	ENSG00000175294	ENST00000312106	D	0.96265	-3.96	3.33	-5.16	0.02857	.	2.916730	0.01422	N	0.014386	D	0.91888	0.7432	L	0.43923	1.385	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.79546	-0.1759	10	0.72032	D	0.01	6.2679	0.6048	0.00750	0.3187:0.2782:0.1112:0.2919	.	95	Q8NEC5	CTSR1_HUMAN	S	95	ENSP00000309052:G95S	ENSP00000309052:G95S	G	-	1	0	CATSPER1	65550144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.734000	0.04843	-0.314000	0.08810	GGC		0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		125	589	0	0	0	1	0	125	589					T	65793568	C	T	65793568	3	4	79	1	0	0	0	0	1	0	0	0	2694	681	24	2	2107	2	CATSPER1	11	65793568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	65793568	69212948	12317	22634											
GAL3ST3	89792	broad.mit.edu	37	chr11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccgtcaggttgtggcGctcggcaaagcgaaacagga	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	89					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(265-267)Cgc>Tgc		galactose-3-O-sulfotransferase 3							31	26	27					11																	65811009		2201	4295	6496	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65811009G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.265C>T	11.37:g.65811009G>A	ENSP00000308591:p.Arg89Cys					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	546	-			89					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.265C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859821	0.17178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.49	3.51	0.40186	.	0.151298	0.42548	D	0.000688	D	0.98947	0.9642	M	0.79011	2.435	0.50467	D	0.999871	B	0.21753	0.06	B	0.15484	0.013	D	0.99917	1.1232	10	0.66056	D	0.02	-23.8739	10.4288	0.44395	0.0:0.0:0.7013:0.2987	.	89	Q96A11	G3ST3_HUMAN	C	89	ENSP00000308591:R89C;ENSP00000434829:R89C	ENSP00000308591:R89C	R	-	1	0	GAL3ST3	65567585	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.107000	0.41844	2.213000	0.71641	0.462000	0.41574	CGC		0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		20	201	0	0	0	1	0	20	201					A	65811009	G	A	65811009	3	1	79	1	0	0	0	0	1	0	0	0	6227	1087	38	1	1034	1	GAL3ST3	11	65811009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17441	65811009	69195507	12318	22635											
SF3B2	10992	broad.mit.edu	37	chr11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttcgagacacgactgaaGgagaagaagccaggagatct	14	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000322535.6	+	15	1855	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	SF3B2_ENST00000528302.1_Missense_Mutation_p.K585N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	602				K -> E (in Ref. 1; BAF83539). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACGACTGAAGGAGAAGAAGC	0.517																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1753-1755)aaG>aaT		splicing factor 3b, subunit 2, 145kDa							132	129	130					11																	65829183		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65829183G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1806G>T	11.37:g.65829183G>T	ENSP00000318861:p.Lys602Asn					SF3B2_ENST00000322535.6_Missense_Mutation_p.K602N	p.K585N			Q13435	SF3B2_HUMAN			14	1809	+			602					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1755G>T	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295452|4.295452	0.81025|0.81025	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.65|5.65	4.74|4.74	0.60224|0.60224	PSP, proline-rich (1);|.	0.093473|.	0.64402|.	D|.	0.000001|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.78588|0.78588	-0.2146|-0.2146	9|5	0.87932|.	D|.	0|.	-34.11|-34.11	12.2431|12.2431	0.54555|0.54555	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	602|.	Q13435|.	SF3B2_HUMAN|.	N|M	585;602;506|23	.|.	ENSP00000318861:K602N|.	K|R	+|+	3|2	2|0	SF3B2|SF3B2	65585759|65585759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.361000|3.361000	0.52306|0.52306	1.393000|1.393000	0.46605|0.46605	0.557000|0.557000	0.71058|0.71058	AAG|AGG		0.517	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			15	259	1	0	4.75885e-15	1	5.18821e-15	15	259					T	65829183	G	T	65829183	3	4	79	1	0	0	0	0	1	0	0	0	14201	991	35	3	1864	3	SF3B2	11	65829183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18174	65829183	69177333	12319	22636											
PACS1	55690	broad.mit.edu	37	chr11	65988131	65988131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggagcatgtgtcccgCgagcagatccgggaagtgga	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	356					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATGTGTCCCGCGAGCAGATCC	0.507																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1066-1068)cgC>cgT		phosphofurin acidic cluster sorting protein 1							94	88	90					11																	65988131		2201	4295	6496	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988131C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1068C>T	11.37:g.65988131C>T							p.R356R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			9	1101	+			356					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.1068C>T	CCDS8129.1																																																																																				0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		44	246	0	0	0	1	0	44	246					T	65988131	C	T	65988131	2	4	79	1	0	0	0	0	0	0	0	1	11414	755	27	1		1	PACS1	11	65988131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158948	65988131	69018385	12320	22637											
KLC2	64837	broad.mit.edu	37	chr11	66033168	66033168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttgggggccctataCcggcgccagggcaagctgga	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000417856.1	+	12	1620	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Silent_p.Y320Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	459					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCCCTATACCGGCGCCAGG	0.652																																						ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(958-960)taC>taT		kinesin light chain 2							32	31	31					11																	66033168		2200	4295	6495	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033168C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1377C>T	11.37:g.66033168C>T						KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000417856.1_Silent_p.Y459Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394078.1_Intron	p.Y320Y			Q9H0B6	KLC2_HUMAN			10	1978	+			459					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.960C>T	CCDS8130.1																																																																																				0.652	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		12	242	0	0	0	1	0	12	242					T	66033168	C	T	66033168	2	4	79	1	0	0	0	0	0	0	0	1	8364	518	18	2		2	KLC2	11	66033168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45037	66033168	68973348	12321	22638											
RAB1B	81876	broad.mit.edu	37	chr11	66043577	66043577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaagaatgccaccaatgtCgagcaggcgttcatgaccat	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	RAB1B_ENST00000527397.1_Silent_p.V126V|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	158					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(472-474)gtC>gtT		RAB1B, member RAS oncogene family							49	47	48					11																	66043577		2200	4295	6495	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66043577C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.474C>T	11.37:g.66043577C>T						RAB1B_ENST00000527397.1_Silent_p.V126V|RP11-867G23.3_ENST00000501708.1_lincRNA	p.V158V	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			6	621	+			158					A8K7S1	Silent	SNP	ENST00000311481.6	37	c.474C>T	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212752	0.09757	.	.	ENSG00000174903	ENST00000314965	.	.	.	3.9	-7.79	0.01218	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59332	-0.7474	5	0.52906	T	0.07	.	2.8061	0.05428	0.1647:0.0972:0.3771:0.361	.	.	.	.	L	158	.	ENSP00000313814:S158L	S	+	2	0	RAB1B	65800153	0.002000	0.14202	0.181000	0.23098	0.807000	0.45602	-1.994000	0.01474	-3.387000	0.00174	0.313000	0.20887	TCG		0.582	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		24	111	0	0	0	1	0	24	111					T	66043577	C	T	66043577	2	4	79	1	0	0	0	0	0	0	0	1	12956	871	31	1		1	RAB1B	11	66043577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10409	66043577	68962939	12322	22639											
RAB1B	81876	broad.mit.edu	37	chr11	66043694	66043694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgtaaagccggctggCggtggctgttgctaggaggg	17	10	0	0	rs368830540		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RAB1B_ENST00000527397.1_Silent_p.G165G|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	197					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(589-591)ggC>ggT		RAB1B, member RAS oncogene family		C		0,4396		0,0,2198	12	14	14		591	-5.9	0.8	11		14	1,8581		0,1,4290	no	coding-synonymous	RAB1B	NM_030981.2		0,1,6488	TT,TC,CC		0.0117,0.0,0.0077		197/202	66043694	1,12977	2198	4291	6489	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66043694C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.591C>T	11.37:g.66043694C>T						RAB1B_ENST00000527397.1_Silent_p.G165G|RP11-867G23.3_ENST00000501708.1_lincRNA	p.G197G	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			6	738	+			197					A8K7S1	Silent	SNP	ENST00000311481.6	37	c.591C>T	CCDS31613.1																																																																																				0.632	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		17	62	0	0	0	1	0	17	62					T	66043694	C	T	66043694	2	4	79	1	0	0	0	0	0	0	0	1	12956	755	27	1		1	RAB1B	11	66043694	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	66043694	68962822	12323	22640											
YIF1A	10897	broad.mit.edu	37	chr11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacgctgccgggggaCggggccccccatgctgtcgg	18	14	0	1	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000376901.4	-	8	971	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	263					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(787-789)Gtc>Atc		Yip1 interacting factor homolog A (S. cerevisiae)		C	ILE/VAL	1,4383		0,1,2191	17	22	20		787	3.7	0	11	dbSNP_134	20	0,8550		0,0,4275	no	missense	YIF1A	NM_020470.2	29	0,1,6466	TT,TC,CC		0.0,0.0228,0.0077	benign	263/294	66052203	1,12933	2192	4275	6467	SO:0001583	missense	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66052203C>T	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.787G>A	11.37:g.66052203C>T	ENSP00000366098:p.Val263Ile					YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000526497.1_5'UTR|CNIH2_ENST00000530519.1_Intron	p.V263I	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			8	971	-			263					A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	37	c.787G>A	CCDS8132.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	2.28E-4	0.0	ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904	T;T	0.43688	0.94;0.94	5.66	3.72	0.42706	.	0.739902	0.13028	N	0.419526	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.26202	0.067	T	0.26018	-1.0115	10	0.30078	T	0.28	-9.9507	10.6611	0.45702	0.0:0.7933:0.1328:0.074	.	263	O95070	YIF1A_HUMAN	I	49;211;263;267	ENSP00000352437:V211I;ENSP00000366098:V263I	ENSP00000352437:V211I	V	-	1	0	YIF1A	65808779	0.005000	0.15991	0.001000	0.08648	0.073000	0.16967	1.543000	0.36147	0.700000	0.31782	0.561000	0.74099	GTC		0.652	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		50	182	0	0	0	1	0	50	182					T	66052203	C	T	66052203	3	4	79	1	0	0	0	0	1	0	0	0	17529	536	19	1	98	1	YIF1A	11	66052203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8509	66052203	68954313	12324	22641											
TMEM151A	256472	broad.mit.edu	37	chr11	66062461	66062461	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagcgccaacgagggCctggacgactatctggaggc	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	248						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(742-744)ggC>ggA		transmembrane protein 151A							14	11	12					11																	66062461		2139	4144	6283	SO:0001819	synonymous_variant	256472					integral to membrane		g.chr11:66062461C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.744C>A	11.37:g.66062461C>A							p.G248G	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	888	+			248					Q8ND14	Silent	SNP	ENST00000327259.4	37	c.744C>A	CCDS8133.1																																																																																				0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		19	61	1	0	3.32936e-07	1	3.45006e-07	19	61					A	66062461	C	A	66062461	2	1	79	1	0	0	0	0	0	0	0	1	16122	726	26	3		3	TMEM151A	11	66062461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10258	66062461	68944055	12325	22642											
CD248	57124	broad.mit.edu	37	chr11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctcgctacaataacactCgaagccaccaacgtagttga	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	334	EGF-like; calcium-binding. {ECO:0000255}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAATAACACTCGAAGCCACCA	0.607																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1000-1002)Gag>Aag		CD248 molecule, endosialin	Cefalotin(DB00456)						64	51	56					11																	66083499		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083499C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1000G>A	11.37:g.66083499C>T	ENSP00000308117:p.Glu334Lys					RP11-867G23.13_ENST00000534065.1_RNA	p.E334K	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1016	-			334			EGF-like; calcium-binding (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1000G>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611796	0.66558	.	.	ENSG00000174807	ENST00000311330	D	0.92149	-2.98	4.56	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	1.102050	0.07089	N	0.838496	D	0.93360	0.7883	L	0.27975	0.815	0.41655	D	0.989157	D	0.76494	0.999	D	0.69654	0.965	D	0.88052	0.2788	10	0.39692	T	0.17	-13.7102	14.8448	0.70251	0.0:1.0:0.0:0.0	.	334	Q9HCU0	CD248_HUMAN	K	334	ENSP00000308117:E334K	ENSP00000308117:E334K	E	-	1	0	CD248	65840075	0.943000	0.32029	0.996000	0.52242	0.741000	0.42261	1.916000	0.39986	2.350000	0.79820	0.462000	0.41574	GAG		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		45	171	0	0	0	1	0	45	171					T	66083499	C	T	66083499	3	4	79	1	0	0	0	0	1	0	0	0	2998	893	31	1	1277	1	CD248	11	66083499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21038	66083499	68923017	12326	22643											
RIN1	9610	broad.mit.edu	37	chr11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgagctctccctccgtaGcagctggcaagggggcagcc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000311320.4	-	6	985	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	287					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(859-861)Cta>Ata		Ras and Rab interactor 1							16	14	15					11																	66102411		2194	4292	6486	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102411G>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.859C>A	11.37:g.66102411G>T	ENSP00000310406:p.Leu287Ile					RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.L182I	p.L287I	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	985	-			287					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.859C>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741447	0.49151	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.93;2.74;2.25	4.26	4.26	0.50523	.	0.428856	0.18284	N	0.145939	T	0.28234	0.0697	M	0.61703	1.905	0.28014	N	0.934784	B;D	0.58268	0.32;0.982	B;P	0.51657	0.081;0.676	T	0.06588	-1.0818	10	0.49607	T	0.09	-10.9273	12.5372	0.56147	0.0:0.0:1.0:0.0	.	182;287	E9PNR2;Q13671	.;RIN1_HUMAN	I	287;182;182	ENSP00000310406:L287I;ENSP00000400560:L182I;ENSP00000432798:L182I	ENSP00000310406:L287I	L	-	1	2	RIN1	65858987	0.968000	0.33430	0.996000	0.52242	0.376000	0.30014	1.680000	0.37607	2.099000	0.63709	0.462000	0.41574	CTA		0.711	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		22	98	1	0	1.96292e-10	1	2.08093e-10	22	98					T	66102411	G	T	66102411	3	4	79	1	0	0	0	0	1	0	0	0	13421	962	34	3	1512	3	RIN1	11	66102411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18912	66102411	68904105	12327	22644											
BRMS1	25855	broad.mit.edu	37	chr11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtctggctgccgctccGctcctcctcactctcttcct	6	20	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	34					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(100-102)Cgg>Tgg		breast cancer metastasis suppressor 1							159	121	134					11																	66109606		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66109606G>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.100C>T	11.37:g.66109606G>A	ENSP00000353042:p.Arg34Trp					BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	p.R34W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			2	260	-			34					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.100C>T	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031453	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.435802	0.22217	N	0.063014	T	0.38639	0.1048	L	0.36672	1.1	0.31392	N	0.677761	D;D	0.67145	0.979;0.996	B;P	0.47573	0.183;0.55	T	0.50808	-0.8784	9	0.87932	D	0	-21.9512	11.0319	0.47779	0.0:0.1891:0.8109:0.0	.	34;34	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	W	34	.	ENSP00000353042:R34W	R	-	1	2	BRMS1	65866182	0.865000	0.29922	0.991000	0.47740	0.987000	0.75469	3.129000	0.50500	2.234000	0.73211	0.591000	0.81541	CGG		0.567	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		30	312	0	0	0	1	0	30	312					A	66109606	G	A	66109606	3	1	79	1	0	0	0	0	1	0	0	0	1520	1086	38	1	820	1	BRMS1	11	66109606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7195	66109606	68896910	12328	22645											
SLC29A2	3177	broad.mit.edu	37	chr11	66136654	66136654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggctgcccagaatgcGcaccgtctccgggacgctgc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	ENST00000357440.2	-	4	520	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	98					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCCAGAATGCGCACCGTCTCC	0.652																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(292-294)Cgc>Tgc		solute carrier family 29 (equilibrative nucleoside transporter), member 2							43	36	38					11																	66136654		2195	4285	6480	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136654G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.292C>T	11.37:g.66136654G>A	ENSP00000350024:p.Arg98Cys					SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C	p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			4	520	-			98					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.292C>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513346	0.44660	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.80653	1.77;-1.4;-1.4;-1.4	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.974	D	0.91518	0.5232	10	0.87932	D	0	-16.9786	9.4636	0.38800	0.0:0.0:0.7887:0.2113	.	98;98	G5E943;Q14542	.;S29A2_HUMAN	C	98	ENSP00000311250:R98C;ENSP00000350024:R98C;ENSP00000439456:R98C;ENSP00000440329:R98C	ENSP00000311250:R98C	R	-	1	0	SLC29A2	65893230	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	4.983000	0.63832	2.207000	0.71202	0.555000	0.69702	CGC		0.652	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		13	31	0	0	0	1	0	13	31					A	66136654	G	A	66136654	3	1	79	1	0	0	0	0	1	0	0	0	14585	1087	38	1	1114	1	SLC29A2	11	66136654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27048	66136654	68869862	12329	22646											
NPAS4	266743	broad.mit.edu	37	chr11	66192584	66192584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaggggccccatcGccttgcaacaacctgtcccc	11	18	0	0	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2221-2223)tcG>tcA		neuronal PAS domain protein 4		G		0,4400		0,0,2200	60	63	62		2223	-0.8	0.9	11	dbSNP_134	62	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	AA,AG,GG		0.0233,0.0,0.0154		741/803	66192584	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192584G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2223G>A	11.37:g.66192584G>A							p.S741S	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2399	+			741					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2223G>A	CCDS8138.1																																																																																				0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		95	373	0	0	0	1	0	95	373					A	66192584	G	A	66192584	2	1	79	1	0	0	0	0	0	0	0	1	10607	1074	38	1		1	NPAS4	11	66192584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55930	66192584	68813932	12330	22647											
PELI3	246330	broad.mit.edu	37	chr11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccccacggcacccatgctTtccatgccgcctgccccttt	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000320740.7	+	8	1484	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.F418L|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	442					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1252-1254)Ttc>Ctc		pellino E3 ubiquitin protein ligase family member 3							15	15	15					11																	66243552		2186	4250	6436	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66243552T>C	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1324T>C	11.37:g.66243552T>C	ENSP00000322532:p.Phe442Leu					CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.F442L|CTD-3074O7.5_ENST00000533502.1_RNA	p.F418L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1536	+			442					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.1252T>C	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430539	0.83776	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.946;0.977	T	0.69661	-0.5085	10	0.62326	D	0.03	-24.7935	11.9441	0.52918	0.0:0.0:0.0:1.0	.	418;442	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	L	418;442	ENSP00000309848:F418L;ENSP00000322532:F442L	ENSP00000322532:F442L	F	+	1	0	PELI3	66000128	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.712000	0.84684	1.919000	0.55581	0.533000	0.62120	TTC		0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		21	73	0	0	0	1	0	21	73					C	66243552	T	C	66243552	3	2	79	1	0	0	0	0	1	0	0	0	11765	1841	64	4	1350	4	PELI3	11	66243552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50968	66243552	68762964	12331	22648											
DPP3	10072	broad.mit.edu	37	chr11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatgctctgctcagccGcctcttccgcgcccaggacc	8	19	4	0	rs202184719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000360510.2	+	2	259	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000532677.1_Missense_Mutation_p.R84H|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGCTCAGCCGCCTCTTCCGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18121	0.0		0.0	False		,,,				2504	0.001					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(250-252)cGc>cAc		dipeptidyl-peptidase 3							45	46	45					11																	66249865		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66249865G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.194G>A	11.37:g.66249865G>A	ENSP00000353701:p.Arg65His					DPP3_ENST00000531863.1_Missense_Mutation_p.R85H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000360510.2_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H	p.R84H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			2	652	+			65					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.251G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518934	0.85495	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	4.81	0.61882	.	0.155567	0.52532	N	0.000063	T	0.66147	0.2760	M	0.75615	2.305	0.42527	D	0.993026	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.548	T	0.70883	-0.4751	10	0.72032	D	0.01	.	12.79	0.57528	0.0792:0.0:0.9208:0.0	.	84;65	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	85;84;65;65;65;65;65;65;65;65	ENSP00000432782:R85H;ENSP00000435284:R84H;ENSP00000353701:R65H;ENSP00000389943:R65H;ENSP00000440502:R65H;ENSP00000431606:R65H;ENSP00000436941:R65H;ENSP00000436820:R65H;ENSP00000432618:R65H	ENSP00000309957:R65H	R	+	2	0	DPP3	66006441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.129000	0.42055	1.426000	0.47256	-0.222000	0.12452	CGC		0.642	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			12	406	0	0	0	1	0	12	406					A	66249865	G	A	66249865	3	1	79	1	0	0	0	0	1	0	0	0	4744	1087	38	1	196	1	DPP3	11	66249865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6313	66249865	68756651	12332	22649											
DPP3	10072	broad.mit.edu	37	chr11	66254053	66254053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggagtgaggctgctcagCagcacccagaagaagtcagg	15	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254053C>T	ENST00000360510.2	+	4	468	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q154*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	135					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGCTGCTCAGCAGCACCCAGA	0.602																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(460-462)Cag>Tag		dipeptidyl-peptidase 3							104	101	102					11																	66254053		2200	4295	6495	SO:0001587	stop_gained	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66254053C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.403C>T	11.37:g.66254053C>T	ENSP00000353701:p.Gln135*					DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.Q135*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*	p.Q154*	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			4	861	+			135					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	ENST00000360510.2	37	c.460C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852859	0.32699	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000347422;ENST00000531354	.	.	.	4.91	2.94	0.34122	.	0.331918	0.31963	N	0.006796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.0857	0.53695	0.0:0.4526:0.5474:0.0	.	.	.	.	X	155;154;135;135;135;33;105;105;33;33;135;135	.	ENSP00000309957:Q135X	Q	+	1	0	DPP3	66010629	1.000000	0.71417	0.937000	0.37676	0.403000	0.30841	3.073000	0.50057	1.035000	0.39972	0.591000	0.81541	CAG		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			14	642	0	0	0	1	0	14	642					T	66254053	C	T	66254053	4	4	79	1	0	0	0	0	0	1	0	0	4744	711	25	2	413	2	DPP3	11	66254053	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4188	66254053	68752463	12333	22650											
DPP3	10072	broad.mit.edu	37	chr11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgccaaattggcccagGactttctggactcacaggtt	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000360510.2	+	5	621	c.556G>A	c.(556-558)Gac>Aac	p.D186N	DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000532677.1_Missense_Mutation_p.D205N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	186					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTGGCCCAGGACTTTCTGGA	0.537																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(613-615)Gac>Aac		dipeptidyl-peptidase 3							134	120	125					11																	66254796		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66254796G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.556G>A	11.37:g.66254796G>A	ENSP00000353701:p.Asp186Asn					DPP3_ENST00000531863.1_Missense_Mutation_p.D206N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000360510.2_Missense_Mutation_p.D186N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N	p.D205N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			5	1014	+			186					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.613G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482673	0.44147	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.89	3.72	0.42706	.	0.310982	0.39407	N	0.001362	T	0.17662	0.0424	L	0.54965	1.715	0.32206	N	0.577221	B;B	0.15719	0.014;0.005	B;B	0.22152	0.022;0.038	T	0.06356	-1.0831	10	0.32370	T	0.25	.	5.0196	0.14354	0.2599:0.0:0.7401:0.0	.	205;186	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	206;205;186;186;186;84;156;156;84;84;186	ENSP00000432782:D206N;ENSP00000435284:D205N;ENSP00000353701:D186N;ENSP00000389943:D186N;ENSP00000440502:D186N;ENSP00000437101:D84N;ENSP00000431606:D156N;ENSP00000436941:D156N;ENSP00000434518:D84N;ENSP00000432618:D186N	ENSP00000353701:D186N	D	+	1	0	DPP3	66011372	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.591000	0.46163	2.415000	0.81967	0.655000	0.94253	GAC		0.537	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			57	254	0	0	0	1	0	57	254					A	66254796	G	A	66254796	3	1	79	1	0	0	0	0	1	0	0	0	4744	1174	41	2	570	2	DPP3	11	66254796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	743	66254796	68751720	12334	22651											
DPP3	10072	broad.mit.edu	37	chr11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtctcttctagaacCtcagtgcctacaacacccgg	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000360510.2	+	6	642	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000532677.1_Missense_Mutation_p.L212I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	193					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTAGAACCTCAGTGCCTA	0.562																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(634-636)Ctc>Atc		dipeptidyl-peptidase 3							79	76	77					11																	66255388		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66255388C>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.577C>A	11.37:g.66255388C>A	ENSP00000353701:p.Leu193Ile					DPP3_ENST00000531863.1_Missense_Mutation_p.L213I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000360510.2_Missense_Mutation_p.L193I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I	p.L212I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			6	1035	+			193					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.634C>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492621	0.12702	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.0	2.09	0.27110	.	0.123537	0.56097	D	0.000032	T	0.08447	0.0210	N	0.05554	-0.025	0.34439	D	0.699378	B;B	0.02656	0.0;0.0	B;B	0.12156	0.005;0.007	T	0.26985	-1.0087	10	0.13108	T	0.6	.	7.1169	0.25421	0.1692:0.7354:0.0:0.0954	.	212;193	G3V1D3;Q9NY33	.;DPP3_HUMAN	I	213;212;193;193;193;91;163;163;91;91;193	ENSP00000432782:L213I;ENSP00000435284:L212I;ENSP00000353701:L193I;ENSP00000389943:L193I;ENSP00000440502:L193I;ENSP00000437101:L91I;ENSP00000431606:L163I;ENSP00000436941:L163I;ENSP00000434518:L91I;ENSP00000432618:L193I	ENSP00000353701:L193I	L	+	1	0	DPP3	66011964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.600000	0.36762	0.625000	0.30304	0.563000	0.77884	CTC		0.562	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			42	168	1	0	1.7489e-18	1	1.94175e-18	42	168					A	66255388	C	A	66255388	3	1	79	1	0	0	0	0	1	0	0	0	4744	681	24	3	595	3	DPP3	11	66255388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	66255388	68751128	12335	22652											
DPP3	10072	broad.mit.edu	37	chr11	66259196	66259196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcatcgagagctaccgCgacccctttggttcccgagg	13	13	1	1	rs201030149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000360510.2	+	9	1022	c.957C>T	c.(955-957)cgC>cgT	p.R319R	DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000532677.1_Silent_p.R338R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000531863.1_Silent_p.R339R			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	319					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAGCTACCGCGACCCCTTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		14330	0.001		0.0	False		,,,				2504	0.0					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1012-1014)cgC>cgT		dipeptidyl-peptidase 3							167	170	169					11																	66259196		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259196C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.957C>T	11.37:g.66259196C>T						DPP3_ENST00000531863.1_Silent_p.R339R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000360510.2_Silent_p.R319R|DPP3_ENST00000541961.1_Silent_p.R319R	p.R338R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			9	1415	+			319					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1014C>T	CCDS8141.1																																																																																				0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			247	1041	0	0	0	1	0	247	1041					T	66259196	C	T	66259196	2	4	79	1	0	0	0	0	0	0	0	1	4744	755	27	1		1	DPP3	11	66259196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3808	66259196	68747320	12336	22653											
BBS1	582	broad.mit.edu	37	chr11	66294149	66294149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcaagatcctgaagCgtacagcagtgtttgtagag	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66294149C>T	ENST00000318312.7	+	13	1261	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	BBS1_ENST00000393994.2_Missense_Mutation_p.R275C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.R307C|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R441C|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	404					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GATCCTGAAGCGTACAGCAGT	0.537									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1321-1323)Cgt>Tgt									172	161	165					11																	66294149		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66294149C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1210C>T	11.37:g.66294149C>T	ENSP00000317469:p.Arg404Cys					BBS1_ENST00000393994.2_Missense_Mutation_p.R275C|BBS1_ENST00000455748.2_Missense_Mutation_p.R307C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R404C	p.R441C							13	1399	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1321C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138372	0.77775	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.98996	-5.27;-5.31;-5.12;-5.2	4.69	3.69	0.42338	.	.	.	.	.	D	0.99199	0.9722	M	0.88906	2.99	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;0.999;0.999;1.0;1.0;1.0	D	0.98674	1.0689	9	0.87932	D	0	.	9.5267	0.39169	0.3191:0.6809:0.0:0.0	.	79;307;275;292;404;441	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	C	441;404;307;275	ENSP00000398526:R441C;ENSP00000317469:R404C;ENSP00000405764:R307C;ENSP00000377563:R275C	ENSP00000317469:R404C	R	+	1	0	BBS1;CTD-3074O7.11	66050725	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.304000	0.43655	2.548000	0.85928	0.655000	0.94253	CGT		0.537	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			45	499	0	0	0	1	0	45	499					T	66294149	C	T	66294149	3	4	79	1	0	0	0	0	1	0	0	0	1336	768	27	1	1260	1	BBS1	11	66294149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34953	66294149	68712367	12337	22654											
BBS1	582	broad.mit.edu	37	chr11	66297358	66297358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcgcctacctgcagGccctcgagtccagcctgagc	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66297358G>T	ENST00000318312.7	+	14	1459	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	BBS1_ENST00000393994.2_Missense_Mutation_p.A341S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.A373S|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A507S	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	470					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTACCTGCAGGCCCTCGAGTC	0.667									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1519-1521)Gcc>Tcc									68	46	54					11																	66297358		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66297358G>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1408G>T	11.37:g.66297358G>T	ENSP00000317469:p.Ala470Ser					BBS1_ENST00000393994.2_Missense_Mutation_p.A341S|BBS1_ENST00000455748.2_Missense_Mutation_p.A373S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.A470S	p.A507S							14	1597	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1519G>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897593	0.91962	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97209	-4.22;-4.29;-4.11;-4.0	4.45	4.45	0.53987	.	.	.	.	.	D	0.97567	0.9203	M	0.64260	1.97	0.80722	D	1	D;D;B;D;D;D	0.67145	0.989;0.986;0.302;0.996;0.996;0.995	P;P;B;P;P;P	0.61940	0.852;0.84;0.162;0.896;0.858;0.814	D	0.97919	1.0313	9	0.59425	D	0.04	.	14.9491	0.71057	0.0:0.0:1.0:0.0	.	145;373;341;358;470;507	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	S	507;470;373;341	ENSP00000398526:A507S;ENSP00000317469:A470S;ENSP00000405764:A373S;ENSP00000377563:A341S	ENSP00000317469:A470S	A	+	1	0	BBS1;CTD-3074O7.11	66053934	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.100000	0.76989	2.196000	0.70406	0.650000	0.86243	GCC		0.667	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			43	179	1	0	1.48734e-19	1	1.65976e-19	43	179					T	66297358	G	T	66297358	3	4	79	1	0	0	0	0	1	0	0	0	1336	1203	42	3	1462	3	BBS1	11	66297358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3209	66297358	68709158	12338	22655											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307147	66307147	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggacccaggtcataGgagtgctggccccgagccca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000310442.3	-	3	942	c.708C>A	c.(706-708)tcC>tcA	p.S236S	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	236						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(706-708)tcC>tcA		zinc finger, DHHC-type containing 24							21	24	23					11																	66307147		2198	4292	6490	SO:0001819	synonymous_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307147G>T	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.708C>A	11.37:g.66307147G>T						ZDHHC24_ENST00000526986.1_Intron	p.S236S	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	942	-			236					Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	37	c.708C>A	CCDS8143.1																																																																																				0.711	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		27	87	1	0	1.66031e-10	1	1.76115e-10	27	87					T	66307147	G	T	66307147	2	4	79	1	0	0	0	0	0	0	0	1	17668	987	35	3		3	ZDHHC24	11	66307147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9789	66307147	68699369	12339	22656											
ACTN3	8722	broad.mit.edu	37	chr11	66329613	66329613	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagctcaacgagttcCgagcatccttcaaccacttt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66329613C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAACGAGTTCCGAGCATCCTT	0.597																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							56	61	59					11																	66329613		2200	4295	6495	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66329613C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329613C>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2393	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		60	225	0	0	0	1	0	60	225					T	66329613	C	T	66329613	1	4	79	0	1	0	0	0	0	0	0	0	206	644	23	1		1	ACTN3	11	66329613	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22466	66329613	68676903	12340	22657											
CCDC87	55231	broad.mit.edu	37	chr11	66359860	66359860	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagtgctgtgaggccagggGatagggcacagcttgaacgt	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	209					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGGCCAGGGGATAGGGCACA	0.602																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(625-627)atC>atA		coiled-coil domain containing 87							63	50	54					11																	66359860		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359860G>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.627C>A	11.37:g.66359860G>T							p.I209I	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	694	-			209					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.627C>A	CCDS8145.1																																																																																				0.602	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		23	221	1	0	4.54149e-19	1	5.05721e-19	23	221					T	66359860	G	T	66359860	2	4	79	1	0	0	0	0	0	0	0	1	2869	1164	41	3		3	CCDC87	11	66359860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30247	66359860	68646656	12341	22658											
CCS	9973	broad.mit.edu	37	chr11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggggggcctggcaccGtgcagggggtggtgcgcttc	20	11	0	0	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	99	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632													G|||	4	0.000798722	0.0023	0.0	5008	,	,		16974	0.001		0.0	False		,,,				2504	0.0					ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(295-297)Gtg>Atg		copper chaperone for superoxide dismutase		G	MET/VAL	3,4397	6.2+/-15.9	0,3,2197	25	26	25		295	4.3	0.9	11	dbSNP_134	25	0,8590		0,0,4295	yes	missense	CCS	NM_005125.1	21	0,3,6492	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	99/275	66366974	3,12987	2200	4295	6495	SO:0001583	missense	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366974G>A	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.295G>A	11.37:g.66366974G>A	ENSP00000436318:p.Val99Met					CCS_ENST00000310190.4_Missense_Mutation_p.V80M	p.V99M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	736	+			99			Superoxide dismutase-like.		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	c.295G>A	CCDS8146.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.077420	0.76528	6.82E-4	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.57752	0.38;0.38	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.189495	0.46442	D	0.000286	T	0.78175	0.4242	H	0.97103	3.94	0.39517	D	0.968446	D	0.89917	1.0	D	0.67231	0.95	T	0.83326	-0.0015	10	0.87932	D	0	.	8.7598	0.34667	0.103:0.0:0.897:0.0	.	99	O14618	CCS_HUMAN	M	99;80	ENSP00000436318:V99M;ENSP00000307870:V80M	ENSP00000307870:V80M	V	+	1	0	CCS	66123550	1.000000	0.71417	0.896000	0.35187	0.900000	0.52787	4.047000	0.57383	1.419000	0.47118	0.655000	0.94253	GTG		0.632	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		36	177	0	0	0	1	0	36	177					A	66366974	G	A	66366974	3	1	79	1	0	0	0	0	1	0	0	0	2961	1145	40	1	309	1	CCS	11	66366974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7114	66366974	68639542	12342	22659											
RBM4B	83759	broad.mit.edu	37	chr11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatggctgcagcacgaCgcagtgggctcctgtccctt	14	13	0	0	rs149014922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000525754.1	-	2	1588	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR|RP11-658F2.8_ENST00000548810.1_RNA|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	307	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567													C|||	4	0.000798722	0.0008	0.0043	5008	,	,		18986	0.0		0.0	False		,,,				2504	0.0					ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(919-921)cGt>cAt		RNA binding motif protein 4B							58	56	57					11																	66436255		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436255C>T	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.920G>A	11.37:g.66436255C>T	ENSP00000433071:p.Arg307His					RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR	p.R307H			Q9BQ04	RBM4B_HUMAN			2	1588	-			307			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.920G>A	CCDS8149.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.82	3.704686	0.68615	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.30981	1.51;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.69823	2.125	0.80722	D	1	B	0.27068	0.167	B	0.17098	0.017	T	0.07712	-1.0758	10	0.41790	T	0.15	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	307	Q9BQ04	RBM4B_HUMAN	H	307	ENSP00000433071:R307H;ENSP00000310471:R307H	ENSP00000310471:R307H	R	-	2	0	RBM4B	66192831	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.789000	0.55454	2.937000	0.99478	0.650000	0.86243	CGT		0.567	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		60	343	0	0	0	1	0	60	343					T	66436255	C	T	66436255	3	4	79	1	0	0	0	0	1	0	0	0	13192	536	19	1	163	1	RBM4B	11	66436255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69281	66436255	68570261	12343	22660											
SPTBN2	6712	broad.mit.edu	37	chr11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagatggggccgggccccGagtccgggtctgcctctctc	15	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2187					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGGCCCCGAGTCCGGGTC	0.672																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6559-6561)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							25	32	29					11																	66455061		2197	4293	6490	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66455061G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6559C>T	11.37:g.66455061G>A	ENSP00000432568:p.Arg2187Trp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W	p.R2187W			O15020	SPTN2_HUMAN			35	6890	-			2187					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6559C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741130	0.69304	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72051	-0.61;-0.61;-0.62	5.04	5.04	0.67666	.	0.880280	0.09922	N	0.738306	T	0.69424	0.3109	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.57468	0.821	T	0.62647	-0.6810	10	0.66056	D	0.02	.	13.0913	0.59167	0.0:0.1615:0.8385:0.0	.	2187	O15020	SPTN2_HUMAN	W	2187;2187;2187;731	ENSP00000432568:R2187W;ENSP00000311489:R2187W;ENSP00000433593:R2187W	ENSP00000311489:R2187W	R	-	1	2	SPTBN2	66211637	0.000000	0.05858	0.101000	0.21167	0.642000	0.38348	0.244000	0.18124	2.629000	0.89072	0.655000	0.94253	CGG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		47	200	0	0	0	1	0	47	200					A	66455061	G	A	66455061	3	1	79	1	0	0	0	0	1	0	0	0	15172	1057	37	1	629	1	SPTBN2	11	66455061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18806	66455061	68551455	12344	22661											
SPTBN2	6712	broad.mit.edu	37	chr11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctggaaggcctcgtgccGcttgatgaggctctcaactt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2054					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCGTGCCGCTTGATGAGG	0.637																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6160-6162)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							72	59	63					11																	66456195		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66456195G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6160C>T	11.37:g.66456195G>A	ENSP00000432568:p.Arg2054Trp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W	p.R2054W			O15020	SPTN2_HUMAN			31	6491	-			2054					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6160C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195842	0.78902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.69306	-0.39;-0.39;-0.39	4.77	3.78	0.43462	.	0.062854	0.64402	D	0.000005	T	0.79522	0.4460	M	0.73430	2.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.81593	-0.0862	10	0.87932	D	0	.	11.9891	0.53166	0.0:0.0:0.7502:0.2498	.	2054	O15020	SPTN2_HUMAN	W	2054	ENSP00000432568:R2054W;ENSP00000311489:R2054W;ENSP00000433593:R2054W	ENSP00000311489:R2054W	R	-	1	2	SPTBN2	66212771	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.022000	0.49659	2.477000	0.83638	0.591000	0.81541	CGG		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		57	222	0	0	0	1	0	57	222					A	66456195	G	A	66456195	3	1	79	1	0	0	0	0	1	0	0	0	15172	1086	38	1	1044	1	SPTBN2	11	66456195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1134	66456195	68550321	12345	22662											
SPTBN2	6712	broad.mit.edu	37	chr11	66460174	66460174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttcaggccggcatacaGcttgtccacctgggcttggc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1675					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGGCATACAGCTTGTCCACC	0.637																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5023-5025)Ctg>Ttg		spectrin, beta, non-erythrocytic 2							41	33	36					11																	66460174		2200	4293	6493	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460174G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5023C>T	11.37:g.66460174G>A						SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L	p.L1675L			O15020	SPTN2_HUMAN			26	5354	-			1675					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5023C>T	CCDS8150.1																																																																																				0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		47	221	0	0	0	1	0	47	221					A	66460174	G	A	66460174	2	1	79	1	0	0	0	0	0	0	0	1	15172	962	34	2		2	SPTBN2	11	66460174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3979	66460174	68546342	12346	22663											
SPTBN2	6712	broad.mit.edu	37	chr11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccctgcaccctggtcctCctgggccagtgctttggcct	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1452					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCTGGTCCTCCTGGGCCAGT	0.642											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4354-4356)Gag>Aag		spectrin, beta, non-erythrocytic 2							66	55	59					11																	66461759		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66461759C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4354G>A	11.37:g.66461759C>T	ENSP00000432568:p.Glu1452Lys		OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K	p.E1452K			O15020	SPTN2_HUMAN			22	4685	-			1452					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4354G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659003	0.96734	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69778	-0.5053	10	0.23302	T	0.38	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	1452	O15020	SPTN2_HUMAN	K	1452	ENSP00000432568:E1452K;ENSP00000311489:E1452K;ENSP00000433593:E1452K	ENSP00000311489:E1452K	E	-	1	0	SPTBN2	66218335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.397000	0.81536	0.563000	0.77884	GAG		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		13	320	0	0	0	1	0	13	320					T	66461759	C	T	66461759	3	4	79	1	0	0	0	0	1	0	0	0	15172	864	30	2	2886	2	SPTBN2	11	66461759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1585	66461759	68544757	12347	22664											
SPTBN2	6712	broad.mit.edu	37	chr11	66466946	66466946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcagataccagctggCggccagcctccaggagcccg	12	16	1	1	rs372553453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66466946C>T	ENST00000533211.1	-	18	4038	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1236					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TACCAGCTGGCGGCCAGCCTC	0.547																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3706-3708)cGc>cAc		spectrin, beta, non-erythrocytic 2		C	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	90	86	87		3707	4.2	1	11		87	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	29	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	1236/2391	66466946	2,12988	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466946C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3707G>A	11.37:g.66466946C>T	ENSP00000432568:p.Arg1236His					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H	p.R1236H			O15020	SPTN2_HUMAN			18	4038	-			1236					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3707G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869278	0.91587	4.55E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35789	1.29;1.29;1.29	5.16	4.23	0.50019	.	0.157403	0.43919	D	0.000501	T	0.57562	0.2062	M	0.75447	2.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.58696	-0.7591	10	0.51188	T	0.08	.	13.2305	0.59941	0.0:0.9195:0.0:0.0805	.	1236	O15020	SPTN2_HUMAN	H	1236	ENSP00000432568:R1236H;ENSP00000311489:R1236H;ENSP00000433593:R1236H	ENSP00000311489:R1236H	R	-	2	0	SPTBN2	66223522	0.023000	0.18921	1.000000	0.80357	0.916000	0.54674	1.257000	0.32932	2.670000	0.90874	0.591000	0.81541	CGC		0.547	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		14	508	0	0	0	1	0	14	508					T	66466946	C	T	66466946	3	4	79	1	0	0	0	0	1	0	0	0	15172	768	27	1	3549	1	SPTBN2	11	66466946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	66466946	68539570	12348	22665											
SPTBN2	6712	broad.mit.edu	37	chr11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagccagttcccagggcCtccagtcgctgtcgtaggaa	11	15	0	0	rs367736142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1148					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCCCAGGGCCTCCAGTCGCT	0.697																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3442-3444)gaG>gaT		spectrin, beta, non-erythrocytic 2							23	25	24					11																	66468126		2195	4292	6487	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468126C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3444G>T	11.37:g.66468126C>A	ENSP00000432568:p.Glu1148Asp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D	p.E1148D			O15020	SPTN2_HUMAN			17	3775	-			1148					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3444G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827036	0.50739	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.56	0.915	0.19366	.	0.060221	0.64402	D	0.000002	T	0.19446	0.0467	N	0.04724	-0.175	0.37733	D	0.925334	B	0.24186	0.099	B	0.21360	0.034	T	0.08994	-1.0695	10	0.11794	T	0.64	.	6.7507	0.23485	0.0:0.5533:0.0:0.4467	.	1148	O15020	SPTN2_HUMAN	D	1148	ENSP00000432568:E1148D;ENSP00000311489:E1148D;ENSP00000433593:E1148D	ENSP00000311489:E1148D	E	-	3	2	SPTBN2	66224702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.956000	0.29202	0.285000	0.22329	-0.339000	0.08088	GAG		0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		41	192	1	0	1.22674e-20	1	1.37621e-20	41	192					A	66468126	C	A	66468126	3	1	79	1	0	0	0	0	1	0	0	0	15172	680	24	3	3816	3	SPTBN2	11	66468126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1180	66468126	68538390	12349	22666											
SPTBN2	6712	broad.mit.edu	37	chr11	66472170	66472170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccacaggccccggcctcGctgagcatggtgtagagcgc	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	859					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCCGGCCTCGCTGAGCATGG	0.706																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(2575-2577)agC>agT		spectrin, beta, non-erythrocytic 2							14	13	13					11																	66472170		2195	4292	6487	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472170G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2577C>T	11.37:g.66472170G>A						SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S	p.S859S			O15020	SPTN2_HUMAN			15	2908	-			859					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.2577C>T	CCDS8150.1																																																																																				0.706	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		16	94	0	0	0	1	0	16	94					A	66472170	G	A	66472170	2	1	79	1	0	0	0	0	0	0	0	1	15172	1078	38	1		1	SPTBN2	11	66472170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4044	66472170	68534346	12350	22667											
SPTBN2	6712	broad.mit.edu	37	chr11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctggccccaccttcgGgatccagcagcttggtaagt	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(766-768)cCc>cTc		spectrin, beta, non-erythrocytic 2							147	144	145					11																	66481107		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66481107G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.767C>T	11.37:g.66481107G>A	ENSP00000432568:p.Pro256Leu					SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L	p.P256L			O15020	SPTN2_HUMAN			8	1098	-			256			Actin-binding.|CH 2.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.767C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040059	0.75732	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64618	-0.11;-0.11;-0.11	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86122	0.1569	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	L	256	ENSP00000432568:P256L;ENSP00000311489:P256L;ENSP00000433593:P256L	ENSP00000311489:P256L	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC		0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		157	621	0	0	0	1	0	157	621					A	66481107	G	A	66481107	3	1	79	1	0	0	0	0	1	0	0	0	15172	1232	43	2	6529	2	SPTBN2	11	66481107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8937	66481107	68525409	12351	22668											
RCE1	9986	broad.mit.edu	37	chr11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcctgcctcagcctcGcctgctcctacgtgggcagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	46					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(136-138)Gcc>Acc		Ras converting CAAX endopeptidase 1							5	6	6					11																	66611062		1854	3734	5588	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66611062G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.136G>A	11.37:g.66611062G>A	ENSP00000309163:p.Ala46Thr					RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			1	180	+			46					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.136G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693088	0.96793	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.162448	0.38326	N	0.001732	T	0.66616	0.2807	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68051	-0.5511	9	0.49607	T	0.09	-10.3498	15.0864	0.72158	0.0:0.0:1.0:0.0	.	46	Q9Y256	FACE2_HUMAN	T	46	.	ENSP00000309163:A46T	A	+	1	0	RCE1	66367638	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.931000	0.87625	2.215000	0.71742	0.561000	0.74099	GCC		0.746	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		14	57	0	0	0	1	0	14	57					A	66611062	G	A	66611062	3	1	79	1	0	0	0	0	1	0	0	0	13226	1087	38	1	138	1	RCE1	11	66611062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129955	66611062	68395454	12352	22669											
PC	5091	broad.mit.edu	37	chr11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgggtgcgcacacgagTggccagcagtgactggtggg	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393958.2	-	14	1831	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.T580A|PC_ENST00000393955.2_Missense_Mutation_p.T580A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	580	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1738-1740)Act>Gct		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						70	68	69					11																	66619997		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619997T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1738A>G	11.37:g.66619997T>C	ENSP00000377530:p.Thr580Ala					PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000393958.2_Missense_Mutation_p.T580A	p.T580A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2019	-		Melanoma(852;0.0525)	580			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1738A>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826191	0.71143	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98280	-4.84;-4.84;-4.84	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.103647	0.64402	D	0.000003	D	0.99327	0.9764	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98662	1.0684	10	0.87932	D	0	-19.6207	13.6436	0.62267	0.0:0.0:0.0:1.0	.	580	P11498	PYC_HUMAN	A	580	ENSP00000377527:T580A;ENSP00000377530:T580A;ENSP00000377532:T580A	ENSP00000377527:T580A	T	-	1	0	PC	66376573	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.664000	0.61540	2.107000	0.64212	0.533000	0.62120	ACT		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		99	379	0	0	0	1	0	99	379					C	66619997	T	C	66619997	3	2	79	1	0	0	0	0	1	0	0	0	11539	1696	59	4	1834	4	PC	11	66619997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8935	66619997	68386519	12353	22670											
SYT12	91683	broad.mit.edu	37	chr11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggacctgtctctccGcgtgacggtggctgagagca	13	13	2	2	rs373132081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000525457.1_Missense_Mutation_p.R369H|SYT12_ENST00000527043.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.R369H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597																																					Ovarian(65;2862 3307)	ENST00000393946.2																			1	Substitution - Missense(1)	p.R369H(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(1105-1107)cGc>cAc		synaptotagmin XII		G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	74	63	67		1106,1106	4.6	1	11		67	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	SYT12	NM_001177880.1,NM_177963.3	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	369/422,369/422	66816068	1,12989	2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66816068G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1106G>A	11.37:g.66816068G>A	ENSP00000377520:p.Arg369His					SYT12_ENST00000527043.1_Missense_Mutation_p.R369H|SYT12_ENST00000525457.1_Missense_Mutation_p.R369H	p.R369H			Q8IV01	SYT12_HUMAN			11	2268	+			369			C2 2.			Missense_Mutation	SNP	ENST00000393946.2	37	c.1106G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681759	0.88542	0.0	1.16E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.68624	-0.34;-0.34;-0.34	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.14656	T	0.56	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	369	Q8IV01	SYT12_HUMAN	H	369	ENSP00000377520:R369H;ENSP00000431400:R369H;ENSP00000435316:R369H	ENSP00000377520:R369H	R	+	2	0	SYT12	66572644	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.783000	0.99037	2.270000	0.75569	0.462000	0.41574	CGC		0.597	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		64	291	0	0	0	1	0	64	291					A	66816068	G	A	66816068	3	1	79	1	0	0	0	0	1	0	0	0	15520	1087	38	1	1132	1	SYT12	11	66816068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196071	66816068	68190448	12354	22671											
RHOD	29984	broad.mit.edu	37	chr11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaagatgactatgaccGcctgcggcccctgttctacc	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000308831.2	+	3	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	80					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592																																						ENST00000308831.2																			0				lung(3)	3						c.(238-240)cGc>cAc		ras homolog family member D							140	127	132					11																	66834227		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834227G>A	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.239G>A	11.37:g.66834227G>A	ENSP00000308576:p.Arg80His					RHOD_ENST00000533360.1_Missense_Mutation_p.R80H|RHOD_ENST00000532559.1_Intron	p.R80H	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	324	+			80						Missense_Mutation	SNP	ENST00000308831.2	37	c.239G>A	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755124	0.49362	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.77750	-1.12;-1.12	4.9	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	T	0.71978	0.3404	M	0.79614	2.46	0.80722	D	1	B	0.33748	0.423	B	0.24006	0.05	T	0.74182	-0.3748	10	0.87932	D	0	-19.3198	7.7208	0.28731	0.1975:0.0:0.8025:0.0	.	80	O00212	RHOD_HUMAN	H	80	ENSP00000308576:R80H;ENSP00000431167:R80H	ENSP00000308576:R80H	R	+	2	0	RHOD	66590803	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	6.808000	0.75206	1.301000	0.44836	-0.136000	0.14681	CGC		0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		120	551	0	0	0	1	0	120	551					A	66834227	G	A	66834227	3	1	79	1	0	0	0	0	1	0	0	0	13387	1087	38	1	249	1	RHOD	11	66834227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18159	66834227	68172289	12355	22672											
KDM2A	22992	broad.mit.edu	37	chr11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggctcagtggacacgctActatgagaccccagaggagg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	129					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(385-387)tAc>tGc		lysine (K)-specific demethylase 2A							64	69	68					11																	66975059		2034	4198	6232	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66975059A>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.386A>G	11.37:g.66975059A>G	ENSP00000432786:p.Tyr129Cys					KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			6	832	+			129					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.386A>G	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511494	0.85389	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73681	-0.77;-0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.87932	D	0	-12.3265	14.5521	0.68073	1.0:0.0:0.0:0.0	.	129	Q9Y2K7	KDM2A_HUMAN	C	129	ENSP00000381640:Y129C;ENSP00000432786:Y129C	ENSP00000381640:Y129C	Y	+	2	0	KDM2A	66731635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.026000	0.59711	0.482000	0.46254	TAC		0.517	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		15	189	0	0	0	1	0	15	189					G	66975059	A	G	66975059	3	3	79	1	0	0	0	0	1	0	0	0	8154	391	14	4	404	4	KDM2A	11	66975059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140832	66975059	68031457	12356	22673											
KDM2A	22992	broad.mit.edu	37	chr11	67012741	67012741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaaccagctccacggTtaacacctgtgaggccagct	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L7L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	549					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1645-1647)Tta>Cta		lysine (K)-specific demethylase 2A							107	115	112					11																	67012741		2045	4176	6221	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012741T>C	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1645T>C	11.37:g.67012741T>C						KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.L549L	p.L549L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			14	2091	+			549					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.1645T>C	CCDS44657.1																																																																																				0.547	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		97	669	0	0	0	1	0	97	669					C	67012741	T	C	67012741	2	2	79	1	0	0	0	0	0	0	0	1	8154	1722	60	4		4	KDM2A	11	67012741	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37682	67012741	67993775	12357	22674											
KDM2A	22992	broad.mit.edu	37	chr11	67018039	67018039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcccgaaccccccaGcgtggggatgaggaggggct	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.Q304Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	846					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2536-2538)caG>caA		lysine (K)-specific demethylase 2A							19	21	20					11																	67018039		1965	4145	6110	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018039G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2538G>A	11.37:g.67018039G>A						KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.Q846Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	2984	+			846					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2538G>A	CCDS44657.1																																																																																				0.652	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		35	153	0	0	0	1	0	35	153					A	67018039	G	A	67018039	2	1	79	1	0	0	0	0	0	0	0	1	8154	962	34	2		2	KDM2A	11	67018039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5298	67018039	67988477	12358	22675											
ADRBK1	156	broad.mit.edu	37	chr11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgctctcgctcgtcaGcactggggtgagctgggtgg	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(739-741)aGc>aAc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						49	46	47					11																	67049022		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049022G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.740G>A	11.37:g.67049022G>A	ENSP00000312262:p.Ser247Asn					ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1030	+			247			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.740G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682851	0.14907	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.64618	-0.11;-0.11	5.0	5.0	0.66597	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	0.47229	0.1434	N	0.20530	0.585	0.58432	D	0.999996	B;B	0.22604	0.072;0.023	B;B	0.28139	0.086;0.032	T	0.43861	-0.9365	10	0.02654	T	1	-15.598	18.674	0.91523	0.0:0.0:1.0:0.0	.	247;247	P25098;E9PRV7	ARBK1_HUMAN;.	N	247	ENSP00000312262:S247N;ENSP00000434126:S247N	ENSP00000312262:S247N	S	+	2	0	ADRBK1	66805598	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.008000	0.93601	2.493000	0.84123	0.591000	0.81541	AGC		0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		12	302	0	0	0	1	0	12	302					A	67049022	G	A	67049022	3	1	79	1	0	0	0	0	1	0	0	0	343	971	34	2	774	2	ADRBK1	11	67049022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30983	67049022	67957494	12359	22676											
ADRBK1	156	broad.mit.edu	37	chr11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G													ccacaggggcacccacgggtAcatggctccggaggtcctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1066-1068)tAc>tGc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						75	76	75					11																	67049920		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049920A>G	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1067A>G	11.37:g.67049920A>G	ENSP00000312262:p.Tyr356Cys					ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	p.Y356C	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1357	+			356			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1067A>G	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398443	0.62177	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.59638	0.25;0.25	5.57	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000040	T	0.80778	0.4688	M	0.93594	3.435	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85634	0.1272	10	0.87932	D	0	-2.2284	12.7695	0.57412	0.8634:0.1366:0.0:0.0	.	356;356	P25098;E9PRV7	ARBK1_HUMAN;.	C	356	ENSP00000312262:Y356C;ENSP00000434126:Y356C	ENSP00000312262:Y356C	Y	+	2	0	ADRBK1	66806496	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.939000	0.70179	2.117000	0.64856	0.459000	0.35465	TAC		0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		75	391	0	0	0	1	0	75	391					G	67049920	A	G	67049920	3	3	79	1	0	0	0	0	1	0	0	0	343	391	14	4	1117	4	ADRBK1	11	67049920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	898	67049920	67956596	12360	22677	141	2									
ADRBK1	156	broad.mit.edu	37	chr11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A													ggggcacccacgggtacatgGctccggaggtcctgcagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1072-1074)Gct>Act		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						78	78	78					11																	67049925		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049925G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1072G>A	11.37:g.67049925G>A	ENSP00000312262:p.Ala358Thr					ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	p.A358T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1362	+			358			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1072G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537423	0.85917	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.53423	0.62;0.62	5.7	4.76	0.60689	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	0.64402	D	0.000011	T	0.80391	0.4614	H	0.97918	4.105	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.77004	0.96;0.989	D	0.87699	0.2559	10	0.87932	D	0	-2.0703	16.7385	0.85453	0.0:0.1288:0.8712:0.0	.	358;358	P25098;E9PRV7	ARBK1_HUMAN;.	T	358	ENSP00000312262:A358T;ENSP00000434126:A358T	ENSP00000312262:A358T	A	+	1	0	ADRBK1	66806501	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.562000	0.82300	2.688000	0.91661	0.655000	0.94253	GCT		0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		78	401	0	0	0	1	0	78	401					A	67049925	G	A	67049925	3	1	79	1	0	0	0	0	1	0	0	0	343	1203	42	2	1122	2	ADRBK1	11	67049925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	67049925	67956591	12361	22678	141	2									
ADRBK1	156	broad.mit.edu	37	chr11	67050268	67050268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaagacaagcatgagatCgaccgcatgacgctgacgat	10	11	0	4	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1204-1206)atC>atT		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)	C		1,4399	2.1+/-5.4	0,1,2199	52	46	48		1206	-2.3	1	11	dbSNP_134	48	0,8590		0,0,4295	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		402/690	67050268	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67050268C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1206C>T	11.37:g.67050268C>T						ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	p.I402I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	1496	+			402			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1206C>T	CCDS8156.1																																																																																				0.607	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		24	113	0	0	0	1	0	24	113					T	67050268	C	T	67050268	2	4	79	1	0	0	0	0	0	0	0	1	343	874	31	1		1	ADRBK1	11	67050268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67050268	67956248	12362	22679											
RAD9A	5883	broad.mit.edu	37	chr11	67163803	67163803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacactctcagacacCgactcgcactcccaggacct	7	18	1	1	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	268	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(802-804)acC>acT	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)				1,4399	2.1+/-5.4	0,1,2199	123	117	119		804	-9.3	0	11	dbSNP_134	119	0,8590		0,0,4295	no	coding-synonymous	RAD9A	NM_004584.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		268/392	67163803	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163803C>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.804C>T	11.37:g.67163803C>T						RAD9A_ENST00000535644.1_3'UTR	p.T268T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	897	+			268			Sufficient for interaction with ABL1.		B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	37	c.804C>T	CCDS8159.1																																																																																				0.642	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		142	661	0	0	0	1	0	142	661					T	67163803	C	T	67163803	2	4	79	1	0	0	0	0	0	0	0	1	13045	639	23	1		1	RAD9A	11	67163803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113535	67163803	67842713	12363	22680											
PPP1CA	5499	broad.mit.edu	37	chr11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccttgttcttgtcggCgggcttgaggatctaaaaga	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T|PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	299					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTCTTGTCGGCGGGCTTGAGG	0.587																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(895-897)Gcc>Acc		protein phosphatase 1, catalytic subunit, alpha isozyme							90	86	87					11																	67166104		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166104C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.895G>A	11.37:g.67166104C>T	ENSP00000365936:p.Ala299Thr					PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	p.A299T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		7	1043	-			299					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.895G>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875607	0.72180	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.05513	3.43;3.43;3.43	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000015	T	0.08403	0.0209	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.22003	0.063;0.063;0.004;0.022;0.01;0.003	B;B;B;B;B;B	0.10450	0.005;0.005;0.001;0.003;0.001;0.002	T	0.11251	-1.0595	10	0.66056	D	0.02	-15.3637	16.6987	0.85343	0.0:1.0:0.0:0.0	.	396;396;299;255;310;308	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	310;396;299;255	ENSP00000326031:A310T;ENSP00000365936:A299T;ENSP00000350974:A255T	ENSP00000326031:A310T	A	-	1	0	PPP1CA	66922680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.224000	0.65288	2.474000	0.83562	0.462000	0.41574	GCC		0.587	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		46	211	0	0	0	1	0	46	211					T	67166104	C	T	67166104	3	4	79	1	0	0	0	0	1	0	0	0	12396	768	27	1	101	1	PPP1CA	11	67166104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2301	67166104	67840412	12364	22681											
CARNS1	57571	broad.mit.edu	37	chr11	67186961	67186961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccctccttgctgcaggtaGctgtgaagctcagtggctgg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67186961G>T	ENST00000307823.3	+	5	939	c.487G>T	c.(487-489)Gct>Tct	p.A163S	CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S|CARNS1_ENST00000445895.2_Missense_Mutation_p.A286S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	163					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCAGGTAGCTGTGAAGCT	0.672																																						ENST00000445895.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						c.(856-858)Gct>Tct		carnosine synthase 1							14	17	16					11																	67186961		2021	4179	6200	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67186961G>T		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.487G>T	11.37:g.67186961G>T	ENSP00000308268:p.Ala163Ser					CARNS1_ENST00000307823.3_Missense_Mutation_p.A163S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S	p.A286S			A5YM72	CRNS1_HUMAN			5	970	+			163					A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.856G>T	CCDS44658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231727|4.231727	0.79688|0.79688	.|.	.|.	ENSG00000172508|ENSG00000172531	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895|ENST00000451458;ENST00000546202;ENST00000542876	T;T;T;T|T;T	0.38240|0.51817	1.15;1.15;1.15;1.16|0.87;0.69	5.29|5.29	4.37|4.37	0.52481|0.52481	.|.	.|.	.|.	.|.	.|.	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.24115|0.24115	0.695|0.695	0.26746|0.26746	N|N	0.970297|0.970297	D;P;D|B	0.67145|0.19583	0.996;0.948;0.996|0.037	P;P;P|B	0.60609|0.12156	0.877;0.588;0.877|0.007	T|T	0.20075|0.20075	-1.0286|-1.0286	9|9	0.59425|0.40728	D|T	0.04|0.16	.|.	11.0196|11.0196	0.47709|0.47709	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	286;163;302|88	F5H427;A5YM72;A5YM72-3|E9PDP1	.;CRNS1_HUMAN;.|.	S|R	286;163;286;163;286|88	ENSP00000431670:A286S;ENSP00000308268:A163S;ENSP00000401519:A163S;ENSP00000389009:A286S|ENSP00000439568:S88R;ENSP00000438409:S88R	ENSP00000308268:A163S|ENSP00000405603:S88R	A|S	+|-	1|3	0|2	CARNS1|PPP1CA	66943537|66943537	0.765000|0.765000	0.28485|0.28485	0.894000|0.894000	0.35097|0.35097	0.962000|0.962000	0.63368|0.63368	2.944000|2.944000	0.49034|0.49034	1.235000|1.235000	0.43724|0.43724	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.672	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		4	98	1	0	0.014758	1	0.0148251	4	98					T	67186961	G	T	67186961	3	4	79	1	0	0	0	0	1	0	0	0	2663	971	34	3	874	3	CARNS1	11	67186961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20857	67186961	67819555	12365	22682											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196455	67196455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcggtttctcacaggaCgcatgtccccttgccgagtt	9	16	1	0	rs369666279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	27					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(79-81)gaC>gaT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4085		0,1,2042	75	78	77		81	1.9	1	11		77	0,8332		0,0,4166	no	coding-synonymous	RPS6KB2	NM_003952.2		0,1,6208	TT,TC,CC		0.0,0.0245,0.0081		27/483	67196455	1,12417	2043	4166	6209	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196455C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.81C>T	11.37:g.67196455C>T						RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR	p.D27D	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	126	+			27					B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.81C>T	CCDS41677.1																																																																																				0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		52	292	0	0	0	1	0	52	292					T	67196455	C	T	67196455	2	4	79	1	0	0	0	0	0	0	0	1	13707	535	19	1		1	RPS6KB2	11	67196455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9494	67196455	67810061	12366	22683											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200475	67200475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagtctatccatgagggCgccgtcactcacaccttctg	10	13	4	1	rs377739693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(667-669)ggC>ggT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4107		0,1,2053	40	46	44		669	-5.4	0.1	11		44	1,8403		0,1,4201	no	coding-synonymous	RPS6KB2	NM_003952.2		0,2,6254	TT,TC,CC		0.0119,0.0243,0.016		223/483	67200475	2,12510	2054	4202	6256	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200475C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.669C>T	11.37:g.67200475C>T						RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	p.G223G	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		8	714	+			223			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.669C>T	CCDS41677.1																																																																																				0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		33	203	0	0	0	1	0	33	203					T	67200475	C	T	67200475	2	4	79	1	0	0	0	0	0	0	0	1	13707	755	27	1		1	RPS6KB2	11	67200475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	67200475	67806041	12367	22684											
CORO1B	57175	broad.mit.edu	37	chr11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctcctgcatcacctcCtccagcttcccagcctcctg	6	21	1	0	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000341356.5	-	11	1472	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	454					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1360-1362)gaG>gaT		coronin, actin binding protein, 1B							30	32	31					11																	67205955		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67205955C>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1362G>T	11.37:g.67205955C>A	ENSP00000340211:p.Glu454Asp					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.E454D	p.E454D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1465	-			454					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1362G>T	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272346	0.23221	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61980	0.06;0.06	4.97	-3.5	0.04710	.	0.407209	0.18103	N	0.151625	T	0.32734	0.0839	N	0.17082	0.46	0.27748	N	0.944249	B	0.02656	0.0	B	0.10450	0.005	T	0.30534	-0.9975	10	0.08179	T	0.78	-16.5489	5.61	0.17400	0.0:0.213:0.279:0.508	.	454	Q9BR76	COR1B_HUMAN	D	454	ENSP00000377471:E454D;ENSP00000340211:E454D	ENSP00000340211:E454D	E	-	3	2	CORO1B	66962531	0.022000	0.18835	0.979000	0.43373	0.767000	0.43475	-0.983000	0.03759	-0.505000	0.06568	-0.232000	0.12228	GAG		0.677	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		53	275	1	0	2.22609e-26	1	2.56449e-26	53	275					A	67205955	C	A	67205955	3	1	79	1	0	0	0	0	1	0	0	0	3763	680	24	3	111	3	CORO1B	11	67205955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5480	67205955	67800561	12368	22685											
CORO1B	57175	broad.mit.edu	37	chr11	67206391	67206391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgggcccggctgtgtcGgggtacagatcatcctggaa	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000341356.5	-	10	1205	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000393893.1_Silent_p.P365P|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	365					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1093-1095)ccC>ccT		coronin, actin binding protein, 1B							10	13	12					11																	67206391		2186	4278	6464	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206391G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1095C>T	11.37:g.67206391G>A						CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Silent_p.P365P	p.P365P	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1198	-			365					B2RD45	Silent	SNP	ENST00000341356.5	37	c.1095C>T	CCDS8164.1																																																																																				0.687	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		20	92	0	0	0	1	0	20	92					A	67206391	G	A	67206391	2	1	79	1	0	0	0	0	0	0	0	1	3763	1103	39	1		1	CORO1B	11	67206391	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	436	67206391	67800125	12369	22686											
GPR152	390212	broad.mit.edu	37	chr11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtcctggccacacgggCgaagccccggcaggctgcgg	16	14	0	0	rs538131705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16470	0.001		0.0	False		,,,				2504	0.0				Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(706-708)Gcc>Acc		G protein-coupled receptor 152							31	33	33					11																	67219490		2200	4295	6495	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219490C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.706G>A	11.37:g.67219490C>T	ENSP00000310255:p.Ala236Thr						p.A236T	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	710	-			236					Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.706G>A	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215546	0.22373	.	.	ENSG00000175514	ENST00000312457	T	0.73469	-0.75	4.58	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.190474	0.25648	N	0.029228	T	0.58509	0.2127	N	0.14661	0.345	0.30379	N	0.782109	D	0.55172	0.97	P	0.46208	0.507	T	0.58595	-0.7609	10	0.32370	T	0.25	.	9.2278	0.37418	0.3228:0.6772:0.0:0.0	.	236	Q8TDT2	GP152_HUMAN	T	236	ENSP00000310255:A236T	ENSP00000310255:A236T	A	-	1	0	GPR152	66976066	0.000000	0.05858	0.870000	0.34147	0.133000	0.20885	0.582000	0.23834	2.350000	0.79820	0.561000	0.74099	GCC		0.667	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			25	263	0	0	0	1	0	25	263					T	67219490	C	T	67219490	3	4	79	1	0	0	0	0	1	0	0	0	6687	768	27	1	710	1	GPR152	11	67219490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13099	67219490	67787026	12370	22687											
GPR152	390212	broad.mit.edu	37	chr11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagaagtcagagagggCcaggctgagcaggagcagcg	17	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_5'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(220-222)Gcc>Acc		G protein-coupled receptor 152							17	18	18					11																	67219976		2200	4291	6491	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219976C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.220G>A	11.37:g.67219976C>T	ENSP00000310255:p.Ala74Thr					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	p.A74T	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	224	-			74					Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.220G>A	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358546	0.95854	.	.	ENSG00000175514	ENST00000312457	T	0.56103	0.48	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001330	T	0.67674	0.2918	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	15.6211	0.76808	0.0:1.0:0.0:0.0	.	74	Q8TDT2	GP152_HUMAN	T	74	ENSP00000310255:A74T	ENSP00000310255:A74T	A	-	1	0	GPR152	66976552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.199000	0.58426	2.542000	0.85734	0.561000	0.74099	GCC		0.672	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			6	93	0	0	0	1	0	6	93					T	67219976	C	T	67219976	3	4	79	1	0	0	0	0	1	0	0	0	6687	739	26	2	1196	2	GPR152	11	67219976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	486	67219976	67786540	12371	22688											
PITPNM1	9600	broad.mit.edu	37	chr11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggacagccccagcgccGcgtatacagccacatctttg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000534749.1	-	22	3586	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1133				A -> T (in Ref. 1; CAA67224). {ECO:0000305}.	brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(3397-3399)gCg>gTg		phosphatidylinositol transfer protein, membrane-associated 1							94	103	100					11																	67260478		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67260478G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3398C>T	11.37:g.67260478G>A	ENSP00000437286:p.Ala1133Val					PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A1133V	p.A1133V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			23	3623	-			1133	A -> T (in Ref. 1; CAA67224).				A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.3398C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567459	0.28003	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	2.63	0.31362	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.443249	0.19271	N	0.118403	T	0.67477	0.2897	L	0.50333	1.59	0.18873	N	0.999988	P;P	0.48503	0.911;0.91	B;B	0.35413	0.169;0.202	T	0.63323	-0.6663	10	0.66056	D	0.02	-16.6914	11.7009	0.51571	0.0:0.4955:0.5045:0.0	.	1132;1133	O00562-2;O00562	.;PITM1_HUMAN	V	1133;1132;1133	ENSP00000437286:A1133V;ENSP00000398787:A1132V;ENSP00000348772:A1133V	ENSP00000348772:A1133V	A	-	2	0	PITPNM1	67017054	0.279000	0.24239	0.027000	0.17364	0.105000	0.19272	0.620000	0.24403	1.143000	0.42306	-0.218000	0.12543	GCG		0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		145	883	0	0	0	1	0	145	883					A	67260478	G	A	67260478	3	1	79	1	0	0	0	0	1	0	0	0	11992	1087	38	1	344	1	PITPNM1	11	67260478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40502	67260478	67746038	12372	22689											
PITPNM1	9600	broad.mit.edu	37	chr11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggggccactgcatcccGcacgatgtcgatggtgtctg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000534749.1	-	4	621	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	145					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(433-435)Cgg>Tgg		phosphatidylinositol transfer protein, membrane-associated 1							41	43	42					11																	67269540		2200	4294	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269540G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.433C>T	11.37:g.67269540G>A	ENSP00000437286:p.Arg145Trp					PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R145W	p.R145W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			5	658	-			145					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.433C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818472	0.71028	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.21	3.28	0.37604	START-like domain (1);	0.296317	0.23682	N	0.045614	T	0.58352	0.2116	L	0.47190	1.495	0.38624	D	0.951207	D;D	0.89917	0.999;1.0	D;D	0.73708	0.949;0.981	T	0.63152	-0.6701	10	0.87932	D	0	-30.3704	10.5497	0.45081	0.0:0.0:0.6498:0.3501	.	145;145	O00562-2;O00562	.;PITM1_HUMAN	W	145	ENSP00000437286:R145W;ENSP00000398787:R145W;ENSP00000348772:R145W;ENSP00000434046:R145W;ENSP00000432977:R145W;ENSP00000434904:R145W	ENSP00000348772:R145W	R	-	1	2	PITPNM1	67026116	0.722000	0.28017	1.000000	0.80357	0.992000	0.81027	1.200000	0.32247	1.097000	0.41459	0.655000	0.94253	CGG		0.622	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	181	0	0	0	1	0	11	181					A	67269540	G	A	67269540	3	1	79	1	0	0	0	0	1	0	0	0	11992	1086	38	1	3381	1	PITPNM1	11	67269540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9062	67269540	67736976	12373	22690											
GSTP1	2950	broad.mit.edu	37	chr11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagtacgtgaacctccCcatcaatggcaacgggaaac	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	203	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTGAACCTCCCCATCAATGGC	0.582																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(607-609)cCc>cTc		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						32	33	33					11																	67354023		1964	4136	6100	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67354023C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.608C>T	11.37:g.67354023C>T	ENSP00000381607:p.Pro203Leu					GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	p.P203L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			7	857	+			203			GST C-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.608C>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646131	0.47258	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09073	3.02;3.02	5.3	4.39	0.52855	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.148823	0.44902	D	0.000416	T	0.24928	0.0605	M	0.75264	2.295	0.48135	D	0.999596	D	0.71674	0.998	D	0.66847	0.947	T	0.36841	-0.9731	9	0.87932	D	0	-47.9802	9.8953	0.41316	0.0:0.9049:0.0:0.0951	.	203	P09211	GSTP1_HUMAN	L	203;167	ENSP00000381607:P203L;ENSP00000381604:P167L	ENSP00000381604:P167L	P	+	2	0	GSTP1	67110599	1.000000	0.71417	0.954000	0.39281	0.087000	0.18053	3.640000	0.54350	1.228000	0.43614	-0.251000	0.11542	CCC		0.582	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		41	157	0	0	0	1	0	41	157					T	67354023	C	T	67354023	3	4	79	1	0	0	0	0	1	0	0	0	6874	623	22	2	634	2	GSTP1	11	67354023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84483	67354023	67652493	12374	22691											
NDUFV1	4723	broad.mit.edu	37	chr11	67376922	67376922	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgtgggcccctgcaGgcccaagtatctggtggtga	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCCTGCAGGCCCAAGTAT	0.622																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.e4-1		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						43	53	49					11																	67376922		2198	4294	6492	SO:0001630	splice_region_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67376922G>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.327-1G>T	11.37:g.67376922G>T						NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site		NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			4	479	+								O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Splice_Site	SNP	ENST00000322776.6	37		CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008643	0.54361	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.095	0.65016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFV1	67133498	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	.		0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103	Intron	91	457	1	0	2.84844e-50	1	3.52894e-50	91	457					T	67376922	G	T	67376922	5	4	79	1	0	0	0	0	0	0	1	0	10341	1014	35	3	340	3	NDUFV1	11	67376922	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22899	67376922	67629594	12375	22692											
NUDT8	254552	broad.mit.edu	37	chr11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcggctggaccgcaGcgtgtacagcagcgccggga	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000376693.2	-	1	160	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Missense_Mutation_p.L51M	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	51	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761																																						ENST00000301490.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)	4						c.(151-153)Ctg>Atg		nudix (nucleoside diphosphate linked moiety X)-type motif 8							7	7	7					11																	67397232		1965	3874	5839	SO:0001583	missense	254552					mitochondrion	hydrolase activity|metal ion binding	g.chr11:67397232G>T	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"Nudix motif containing"	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.151C>A	11.37:g.67397232G>T	ENSP00000365883:p.Leu51Met					NUDT8_ENST00000376693.2_Missense_Mutation_p.L51M	p.L51M	NM_181843.2	NP_862826.1	Q8WV74	NUDT8_HUMAN			1	169	-			51			Nudix hydrolase.		Q6ZW59	Missense_Mutation	SNP	ENST00000376693.2	37	c.151C>A	CCDS58151.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132531	0.56828	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07908	3.15;3.15	2.94	2.94	0.34122	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.108661	0.38837	U	0.001554	T	0.21761	0.0524	M	0.63208	1.945	0.39747	D	0.971835	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.01256	-1.1404	10	0.56958	D	0.05	-10.0279	9.5342	0.39213	0.0:0.0:1.0:0.0	.	51;51	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	M	51	ENSP00000301490:L51M;ENSP00000365883:L51M	ENSP00000301490:L51M	L	-	1	2	NUDT8	67153808	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.235000	0.51328	1.679000	0.50963	0.306000	0.20318	CTG		0.761	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		20	83	1	0	3.73148e-12	1	3.99992e-12	20	83					T	67397232	G	T	67397232	3	4	79	1	0	0	0	0	1	0	0	0	10787	962	34	3	283	3	NUDT8	11	67397232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20310	67397232	67609284	12376	22693											
TBX10	347853	broad.mit.edu	37	chr11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgggtctgccttgcccGccaccagccaggccgagctg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	137					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(409-411)gCg>gTg		T-box 10							44	42	43					11																	67401799		2200	4289	6489	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67401799G>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.410C>T	11.37:g.67401799G>A	ENSP00000335191:p.Ala137Val						p.A137V	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			4	497	-			137					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.410C>T	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347886	0.82022	.	.	ENSG00000167800	ENST00000335385	D	0.89681	-2.55	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000010	D	0.94679	0.8284	M	0.88640	2.97	0.53688	D	0.999979	D	0.89917	1.0	D	0.72625	0.978	D	0.95633	0.8691	10	0.87932	D	0	.	14.0846	0.64947	0.0:0.0:1.0:0.0	.	137	O75333	TBX10_HUMAN	V	137	ENSP00000335191:A137V	ENSP00000335191:A137V	A	-	2	0	TBX10	67158375	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	5.323000	0.65858	1.839000	0.53478	0.305000	0.20034	GCG		0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		69	330	0	0	0	1	0	69	330					A	67401799	G	A	67401799	3	1	79	1	0	0	0	0	1	0	0	0	15703	1087	38	1	767	1	TBX10	11	67401799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4567	67401799	67604717	12377	22694											
ALDH3B2	222	broad.mit.edu	37	chr11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctggggtccgcccaGcaccacggcaaagcagctct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	86					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGTCCGCCCAGCACCACGGCA	0.647																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(256-258)Ctg>Atg		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						82	84	83					11																	67433656		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433656G>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.256C>A	11.37:g.67433656G>T	ENSP00000255084:p.Leu86Met					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	p.L86M	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			6	694	-			86					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.256C>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541846	0.45280	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.19	2.24	0.28232	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.980889	0.08310	N	0.965484	T	0.80226	0.4584	L	0.53561	1.675	0.23107	N	0.998288	P	0.48834	0.916	P	0.57620	0.824	T	0.65475	-0.6159	10	0.54805	T	0.06	.	3.3714	0.07222	0.226:0.0:0.5203:0.2536	.	86	P48448	AL3B2_HUMAN	M	86	ENSP00000431595:L86M;ENSP00000255084:L86M;ENSP00000433718:L86M;ENSP00000433466:L86M	ENSP00000255084:L86M	L	-	1	2	ALDH3B2	67190232	0.001000	0.12720	0.911000	0.35937	0.899000	0.52679	0.590000	0.23954	0.872000	0.35775	0.563000	0.77884	CTG		0.647	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		86	445	1	0	9.35349e-44	1	1.14279e-43	86	445					T	67433656	G	T	67433656	3	4	79	1	0	0	0	0	1	0	0	0	500	962	34	3	921	3	ALDH3B2	11	67433656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31857	67433656	67572860	12378	22695											
ALDH3B1	221	broad.mit.edu	37	chr11	67789274	67789274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacagttccagcggctgCgggcattgctgggctgcggc	16	11	0	1	rs200028780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	ENST00000539229.1	+	8	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	295					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCAGCGGCTGCGGGCATTGCT	0.647																																						ENST00000539229.1																			0											c.(880-882)Cgg>Tgg		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)	C	,TRP/ARG,	3,4397	6.2+/-15.9	0,3,2197	46	56	53		882,772,882	2.9	0	11		53	0,8588		0,0,4294	no	coding-synonymous,missense,coding-synonymous	ALDH3B1	NM_000694.2,NM_001030010.1,NM_001161473.1	,101,	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	,probably-damaging,	294/468,258/432,294/468	67789274	3,12985	2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789274C>T	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.880C>T	11.37:g.67789274C>T	ENSP00000474034:p.Arg294Trp					ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000434449.1_3'UTR	p.R294W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			8	996	+			295					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.880C>T																																																																																					0.647	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		90	431	0	0	0	1	0	90	431					T	67789274	C	T	67789274	3	4	79	1	0	0	0	0	1	0	0	0	499	759	27	1	904	1	ALDH3B1	11	67789274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355618	67789274	67217242	12379	22696											
ALDH3B1	221	broad.mit.edu	37	chr11	67790162	67790162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcagagcttggacgAggccatcgagttcatcaacc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	ENST00000539229.1	+	10	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	350					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										AGCTTGGACGAGGCCATCGAG	0.657																																						ENST00000539229.1																			0											c.(1042-1044)gAg>gCg		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						123	112	116					11																	67790162		2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67790162A>C	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1043A>C	11.37:g.67790162A>C	ENSP00000474034:p.Glu348Ala					ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000434449.1_3'UTR	p.E348A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			10	1159	+			350					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.1043A>C																																																																																					0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		85	362	0	0	0	1	0	85	362					C	67790162	A	C	67790162	3	2	79	1	0	0	0	0	1	0	0	0	499	304	11	4	1073	4	ALDH3B1	11	67790162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	67790162	67216354	12380	22697											
TCIRG1	10312	broad.mit.edu	37	chr11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggccgcctcggcccccaGcatcctcatccacttcatca	7	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	605					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1813-1815)aGc>aTc		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							93	87	89					11																	67816688		2199	4294	6493	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816688G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1814G>T	11.37:g.67816688G>T	ENSP00000265686:p.Ser605Ile					TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I	p.S605I	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1922	+			605					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1814G>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797545	0.90538	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96547	0.9405	10	0.87932	D	0	-40.002	16.0297	0.80570	0.0:0.0:1.0:0.0	.	605	Q13488	VPP3_HUMAN	I	605;389	ENSP00000265686:S605I;ENSP00000434407:S389I	ENSP00000265686:S605I	S	+	2	0	TCIRG1	67573264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.553000	0.98118	2.350000	0.79820	0.555000	0.69702	AGC		0.642	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		131	571	1	0	3.13773e-49	1	3.8801e-49	131	571					T	67816688	G	T	67816688	3	4	79	1	0	0	0	0	1	0	0	0	15755	971	34	3	1868	3	TCIRG1	11	67816688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26526	67816688	67189828	12381	22698											
SUV420H1	51111	broad.mit.edu	37	chr11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaccccctattttcctcatCtcgttttagctggattttta	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	784					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTCCTCATCTCGTTTTAGC	0.413																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2350-2352)Gat>Tat		suppressor of variegation 4-20 homolog 1 (Drosophila)							188	206	200					11																	67925463		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925463C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2350G>T	11.37:g.67925463C>A	ENSP00000305899:p.Asp784Tyr						p.D784Y	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2703	-			784					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2350G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742774	0.69418	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	5.39	5.39	0.77823	.	0.098404	0.64402	D	0.000001	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.58188	-0.7680	10	0.87932	D	0	-27.8809	19.1401	0.93444	0.0:1.0:0.0:0.0	.	784	Q4FZB7	SV421_HUMAN	Y	784	ENSP00000305899:D784Y	ENSP00000305899:D784Y	D	-	1	0	SUV420H1	67682039	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.375000	0.79646	2.536000	0.85505	0.491000	0.48974	GAT		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		40	1009	1	0	3.03874e-20	1	3.40186e-20	40	1009					A	67925463	C	A	67925463	3	1	79	1	0	0	0	0	1	0	0	0	15466	913	32	3	311	3	SUV420H1	11	67925463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108775	67925463	67081053	12382	22699											
SUV420H1	51111	broad.mit.edu	37	chr11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacaactgaacaaccgaCgggtgaaggagcacagtctg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	673					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAACAACCGACGGGTGAAGGA	0.493																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2017-2019)Gtc>Atc		suppressor of variegation 4-20 homolog 1 (Drosophila)							90	80	84					11																	67925796		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925796C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2017G>A	11.37:g.67925796C>T	ENSP00000305899:p.Val673Ile						p.V673I	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2370	-			673					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2017G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150346	0.57151	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.04	4.13	0.48395	.	0.701645	0.13851	N	0.358378	T	0.29524	0.0736	N	0.19112	0.55	0.47476	D	0.999434	B	0.27700	0.186	B	0.17098	0.017	T	0.10154	-1.0642	10	0.59425	D	0.04	-2.9363	13.4694	0.61273	0.0:0.925:0.0:0.075	.	673	Q4FZB7	SV421_HUMAN	I	673	ENSP00000305899:V673I	ENSP00000305899:V673I	V	-	1	0	SUV420H1	67682372	0.001000	0.12720	0.012000	0.15200	0.467000	0.32768	0.865000	0.27940	1.362000	0.46000	-0.339000	0.08088	GTC		0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		40	242	0	0	0	1	0	40	242					T	67925796	C	T	67925796	3	4	79	1	0	0	0	0	1	0	0	0	15466	536	19	1	644	1	SUV420H1	11	67925796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	67925796	67080720	12383	22700											
SUV420H1	51111	broad.mit.edu	37	chr11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattctattttgtcatttcGtttcctatttaaaatatgtg	4	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000304363.4	-	7	1011	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCATTTCGTTTCCTATTT	0.299																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(658-660)Cga>Tga		suppressor of variegation 4-20 homolog 1 (Drosophila)							74	72	73					11																	67939172		2200	4294	6494	SO:0001587	stop_gained	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67939172G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.658C>T	11.37:g.67939172G>A	ENSP00000305899:p.Arg220*					SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*	p.R220*	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			7	1011	-			220			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	37	c.658C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8323	15.8848	0.79238	0.0:0.0:0.864:0.136	.	.	.	.	X	220;220;220;220;197;48	.	ENSP00000305899:R220X	R	-	1	2	SUV420H1	67695748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.737000	0.68606	2.854000	0.98071	0.655000	0.94253	CGA		0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		36	236	0	0	0	1	0	36	236					A	67939172	G	A	67939172	4	1	79	1	0	0	0	0	0	1	0	0	15466	1153	40	1	2027	1	SUV420H1	11	67939172	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13376	67939172	67067344	12384	22701											
LRP5	4041	broad.mit.edu	37	chr11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctgctggcccggcGgacggacctacggaggatct	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	349	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1045-1047)cGg>cAg		low density lipoprotein receptor-related protein 5							45	38	41					11																	68153814		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153814G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1046G>A	11.37:g.68153814G>A	ENSP00000294304:p.Arg349Gln						p.R349Q	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1152	+			349			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1046G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338204	0.95758	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45361	U	0.000362	D	0.94742	0.8303	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94779	0.7952	10	0.48119	T	0.1	.	16.3309	0.83014	0.0:0.0:1.0:0.0	.	349	O75197	LRP5_HUMAN	Q	349	ENSP00000294304:R349Q	ENSP00000294304:R349Q	R	+	2	0	LRP5	67910390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.177000	0.69029	0.449000	0.29647	CGG		0.662	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		14	318	0	0	0	1	0	14	318					A	68153814	G	A	68153814	3	1	79	1	0	0	0	0	1	0	0	0	8998	1116	39	1	1068	1	LRP5	11	68153814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214642	68153814	66852702	12385	22702											
LRP5	4041	broad.mit.edu	37	chr11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagctcccgcacattTttgggttcacgctgctgggg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1645-1647)Ttt>Ctt		low density lipoprotein receptor-related protein 5							101	83	90					11																	68171011		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171011T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1645T>C	11.37:g.68171011T>C	ENSP00000294304:p.Phe549Leu						p.F549L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			8	1751	+			549			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1645T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	32	5.155240	0.94686	.	.	ENSG00000162337	ENST00000294304	D	0.91124	-2.79	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	D	0.94228	0.8147	M	0.85859	2.78	0.80722	D	1	P	0.36392	0.551	P	0.50754	0.649	D	0.95161	0.8281	10	0.87932	D	0	.	13.6309	0.62193	0.0:0.0:0.0:1.0	.	549	O75197	LRP5_HUMAN	L	549	ENSP00000294304:F549L	ENSP00000294304:F549L	F	+	1	0	LRP5	67927587	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.727000	0.84838	1.882000	0.54519	0.528000	0.53228	TTT		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		62	324	0	0	0	1	0	62	324					C	68171011	T	C	68171011	3	2	79	1	0	0	0	0	1	0	0	0	8998	1841	64	4	1675	4	LRP5	11	68171011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17197	68171011	66835505	12386	22703											
LRP5	4041	broad.mit.edu	37	chr11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacctggacttcgtgatgGacatcctggtgttccactcc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	891	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2671-2673)Gac>Aac		low density lipoprotein receptor-related protein 5							87	75	79					11																	68181324		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181324G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2671G>A	11.37:g.68181324G>A	ENSP00000294304:p.Asp891Asn						p.D891N	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			12	2777	+			891			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2671G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593856	0.96602	.	.	ENSG00000162337	ENST00000294304	D	0.91351	-2.83	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.96510	0.8861	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	891;891	Q9UES7;O75197	.;LRP5_HUMAN	N	891	ENSP00000294304:D891N	ENSP00000294304:D891N	D	+	1	0	LRP5	67937900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	GAC		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		52	232	0	0	0	1	0	52	232					A	68181324	G	A	68181324	3	1	79	1	0	0	0	0	1	0	0	0	8998	1174	41	2	2717	2	LRP5	11	68181324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10313	68181324	66825192	12387	22704											
LRP5	4041	broad.mit.edu	37	chr11	68191127	68191127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgcgtggggaccgCgacaagcccagggccatcgt	17	12	0	0	rs370274326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1066	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3196-3198)cgC>cgT		low density lipoprotein receptor-related protein 5							76	70	72					11																	68191127		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68191127C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3198C>T	11.37:g.68191127C>T							p.R1066R	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			14	3304	+			1066			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3198C>T	CCDS8181.1																																																																																				0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		97	390	0	0	0	1	0	97	390					T	68191127	C	T	68191127	2	4	79	1	0	0	0	0	0	0	0	1	8998	755	27	1		1	LRP5	11	68191127	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9803	68191127	66815389	12388	22705											
LRP5	4041	broad.mit.edu	37	chr11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttcatagccccgggcGgttcccagcatggccccttc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1442					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4324-4326)Ggt>Agt		low density lipoprotein receptor-related protein 5							23	23	23					11																	68206126		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68206126G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4324G>A	11.37:g.68206126G>A	ENSP00000294304:p.Gly1442Ser						p.G1442S	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			20	4430	+			1442					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4324G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424492	0.01126	.	.	ENSG00000162337	ENST00000294304	D	0.92911	-3.13	4.53	1.35	0.21983	.	0.238461	0.27306	N	0.019977	T	0.69548	0.3123	N	0.01048	-1.04	0.23708	N	0.997051	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.63166	-0.6698	10	0.06757	T	0.87	.	5.4872	0.16757	0.5554:0.0:0.4446:0.0	.	1442;1442	Q9UES7;O75197	.;LRP5_HUMAN	S	1442	ENSP00000294304:G1442S	ENSP00000294304:G1442S	G	+	1	0	LRP5	67962702	0.249000	0.23941	0.042000	0.18584	0.104000	0.19210	1.543000	0.36147	0.538000	0.28769	0.585000	0.79938	GGT		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		31	120	0	0	0	1	0	31	120					A	68206126	G	A	68206126	3	1	79	1	0	0	0	0	1	0	0	0	8998	1116	39	1	4402	1	LRP5	11	68206126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14999	68206126	66800390	12389	22706											
MTL5	9633	broad.mit.edu	37	chr11	68517673	68517673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactgggatcatgcggacGcccgggtgggaggctccttc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000255087.5	-	2	639	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000443940.2_Silent_p.G152G|MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	152					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(454-456)ggC>ggT		metallothionein-like 5, testis-specific (tesmin)							10	11	11					11																	68517673		2178	4277	6455	SO:0001819	synonymous_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517673G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.456C>T	11.37:g.68517673G>A						MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000255087.5_Silent_p.G152G	p.G152G			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	542	-	Esophageal squamous(3;4.37e-12)		152					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	ENST00000255087.5	37	c.456C>T	CCDS8184.1																																																																																				0.667	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		16	66	0	0	0	1	0	16	66					A	68517673	G	A	68517673	2	1	79	1	0	0	0	0	0	0	0	1	9977	1074	38	1		1	MTL5	11	68517673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311547	68517673	66488843	12390	22707											
MTL5	9633	broad.mit.edu	37	chr11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgacctggcccttgcagtCggcgcccagcgcggggttga	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000255087.5	-	2	403	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000443940.2_Missense_Mutation_p.D74N|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	74					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(220-222)Gac>Aac		metallothionein-like 5, testis-specific (tesmin)							13	12	13					11																	68517909		2191	4273	6464	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517909C>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.220G>A	11.37:g.68517909C>T	ENSP00000255087:p.Asp74Asn					MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000255087.5_Missense_Mutation_p.D74N	p.D74N			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	306	-	Esophageal squamous(3;4.37e-12)		74					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.220G>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.066480	0.36470	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.52983	1.3;0.64;1.23	4.25	4.25	0.50352	.	0.143613	0.31566	N	0.007438	T	0.52224	0.1721	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.70227	0.968;0.968;0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	-22.316	12.0095	0.53278	0.0:1.0:0.0:0.0	.	74;57;74	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	N	74	ENSP00000255087:D74N;ENSP00000403086:D74N;ENSP00000440968:D74N	ENSP00000255087:D74N	D	-	1	0	MTL5	68274485	0.121000	0.22262	0.152000	0.22495	0.053000	0.15095	2.985000	0.49362	2.204000	0.70986	0.306000	0.20318	GAC		0.697	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		11	46	0	0	0	1	0	11	46					T	68517909	C	T	68517909	3	4	79	1	0	0	0	0	1	0	0	0	9977	884	31	1	1346	1	MTL5	11	68517909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	68517909	66488607	12391	22708											
MTL5	9633	broad.mit.edu	37	chr11	68518082	68518082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagagctccgtcaccatcGcatcctcggggctgggcagc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68518082G>A	ENST00000255087.5	-	2	230	c.47C>T	c.(46-48)gCg>gTg	p.A16V	MTL5_ENST00000443940.2_Missense_Mutation_p.A16V|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	16					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGTCACCATCGCATCCTCGGG	0.711																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(46-48)gCg>gTg		metallothionein-like 5, testis-specific (tesmin)							13	12	12					11																	68518082		2194	4285	6479	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68518082G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.47C>T	11.37:g.68518082G>A	ENSP00000255087:p.Ala16Val					MTL5_ENST00000544963.1_Missense_Mutation_p.A16V|MTL5_ENST00000255087.5_Missense_Mutation_p.A16V	p.A16V			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	133	-	Esophageal squamous(3;4.37e-12)		16					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.47C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639166	0.29157	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.45668	1.49;0.89;1.48	3.69	1.31	0.21738	.	0.174218	0.27219	N	0.020367	T	0.16300	0.0392	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12502	-1.0545	10	0.45353	T	0.12	-9.2933	4.1092	0.10052	0.203:0.0:0.2211:0.5759	.	16;16	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	V	16	ENSP00000255087:A16V;ENSP00000403086:A16V;ENSP00000440968:A16V	ENSP00000255087:A16V	A	-	2	0	MTL5	68274658	0.024000	0.19004	0.037000	0.18230	0.021000	0.10359	0.351000	0.20096	0.080000	0.16959	-0.701000	0.03672	GCG		0.711	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		4	87	0	0	0	1	0	4	87					A	68518082	G	A	68518082	3	1	79	1	0	0	0	0	1	0	0	0	9977	1087	38	1	1519	1	MTL5	11	68518082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173	68518082	66488434	12392	22709											
MRPL21	219927	broad.mit.edu	37	chr11	68664142	68664142	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcattcaccttcttcacGacctctgcaggggaaggcgg	10	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	79					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632																																						ENST00000362034.2																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(235-237)gtC>gtT		mitochondrial ribosomal protein L21							117	103	108					11																	68664142		2200	4294	6494	SO:0001819	synonymous_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68664142G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"Mitochondrial ribosomal proteins / large subunits"	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.237C>T	11.37:g.68664142G>A						MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	p.V79V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	246	-			79					A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	37	c.237C>T	CCDS8186.1																																																																																				0.632	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		100	492	0	0	0	1	0	100	492					A	68664142	G	A	68664142	2	1	79	1	0	0	0	0	0	0	0	1	9828	1045	37	1		1	MRPL21	11	68664142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146060	68664142	66342374	12393	22710											
IGHMBP2	3508	broad.mit.edu	37	chr11	68703961	68703961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccccagggacctgctacGtccaccaggaccggaagcca	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	671	SS DNA-binding. {ECO:0000250}.		T -> A (in dbSNP:rs622082).		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2011-2013)acG>acA		immunoglobulin mu binding protein 2							35	40	38					11																	68703961		2200	4293	6493	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703961G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2013G>A	11.37:g.68703961G>A							p.T671T	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2124	+			671		T -> A (in dbSNP:rs622082).			A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.2013G>A	CCDS8187.1																																																																																				0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		101	294	0	0	0	1	0	101	294					A	68703961	G	A	68703961	2	1	79	1	0	0	0	0	0	0	0	1	7621	1132	40	1		1	IGHMBP2	11	68703961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39819	68703961	66302555	12394	22711											
IGHMBP2	3508	broad.mit.edu	37	chr11	68707097	68707097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggaccaagaacggatcCctggacccagccaagagggc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2878-2880)tcC>tcA		immunoglobulin mu binding protein 2							36	35	35					11																	68707097		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68707097C>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2880C>A	11.37:g.68707097C>A							p.S960S	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	2991	+			960					A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.2880C>A	CCDS8187.1																																																																																				0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		36	158	1	0	3.86903e-22	1	4.37239e-22	36	158					A	68707097	C	A	68707097	2	1	79	1	0	0	0	0	0	0	0	1	7621	610	22	3		3	IGHMBP2	11	68707097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3136	68707097	66299419	12395	22712											
MRGPRD	116512	broad.mit.edu	37	chr11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacccagacaaagaggGtcaggctggacagagtcatc	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	200						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACAAAGAGGGTCAGGCTGGA	0.592																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(598-600)aCc>aTc		MAS-related GPR, member D							48	44	45					11																	68747857		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747857G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.599C>T	11.37:g.68747857G>A	ENSP00000310631:p.Thr200Ile						p.T200I	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	598	-			200					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.599C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453938	0.12283	.	.	ENSG00000172938	ENST00000309106	T	0.36340	1.26	4.87	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.859950	0.09799	N	0.754331	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.34054	-0.9844	10	0.14252	T	0.57	-7.9404	7.0439	0.25035	0.6781:0.0:0.1932:0.1287	.	200	Q8TDS7	MRGRD_HUMAN	I	200	ENSP00000310631:T200I	ENSP00000310631:T200I	T	-	2	0	MRGPRD	68504433	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.983000	0.01488	-0.471000	0.06891	0.460000	0.39030	ACC		0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		29	146	0	0	0	1	0	29	146					A	68747857	G	A	68747857	3	1	79	1	0	0	0	0	1	0	0	0	9804	1261	44	2	369	2	MRGPRD	11	68747857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40760	68747857	66258659	12396	22713											
TPCN2	219931	broad.mit.edu	37	chr11	68821505	68821505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctctgcctgcaggtgcCgcggccaggtgggacctctg	14	16	2	0	rs558916969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	38					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.001					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(112-114)gcC>gcT		two pore segment channel 2							100	72	82					11																	68821505		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68821505C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.114C>T	11.37:g.68821505C>T						TPCN2_ENST00000542467.1_Silent_p.A38A	p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	215	+			38					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.114C>T	CCDS8189.1																																																																																				0.622	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		29	160	0	0	0	1	0	29	160					T	68821505	C	T	68821505	2	4	79	1	0	0	0	0	0	0	0	1	16449	639	23	1		1	TPCN2	11	68821505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73648	68821505	66185011	12397	22714											
TPCN2	219931	broad.mit.edu	37	chr11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaccttgaaatgcatccGctggtcgctgccggaaatgg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	210					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(628-630)cGc>cAc		two pore segment channel 2							109	106	107					11																	68830434		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830434G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.629G>A	11.37:g.68830434G>A	ENSP00000294309:p.Arg210His					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H	p.R210H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	730	+			210					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.629G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707623	0.30322	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98419	-4.92;-4.92	4.59	2.37	0.29283	Ion transport (1);	0.185451	0.43260	N	0.000583	D	0.97961	0.9329	M	0.73962	2.25	0.19575	N	0.999961	D;D;B	0.76494	0.999;0.998;0.06	D;D;B	0.66979	0.948;0.912;0.038	D	0.92929	0.6362	10	0.19147	T	0.46	-20.9359	6.095	0.20015	0.4607:0.0:0.5393:0.0	.	210;210;125	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	H	140;210;125;210	ENSP00000294309:R210H;ENSP00000445551:R210H	ENSP00000294309:R210H	R	+	2	0	TPCN2	68587010	1.000000	0.71417	0.007000	0.13788	0.069000	0.16628	2.955000	0.49121	0.395000	0.25257	-1.194000	0.01681	CGC		0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		176	709	0	0	0	1	0	176	709					A	68830434	G	A	68830434	3	1	79	1	0	0	0	0	1	0	0	0	16449	1087	38	1	651	1	TPCN2	11	68830434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8929	68830434	66176082	12398	22715											
PPFIA1	8500	broad.mit.edu	37	chr11	70170552	70170552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgtatgcagggaacaGctccttgaaagggaagaaga	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.Q103Q|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	103					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGGGAACAGCTCCTTGAAA	0.423																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(307-309)caG>caA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							136	138	137					11																	70170552		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170552G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.309G>A	11.37:g.70170552G>A						PPFIA1_ENST00000389547.3_Silent_p.Q103Q|AP000487.6_ENST00000528607.1_RNA	p.Q103Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	524	+			103					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.309G>A	CCDS31627.1																																																																																				0.423	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		36	753	0	0	0	1	0	36	753					A	70170552	G	A	70170552	2	1	79	1	0	0	0	0	0	0	0	1	12351	962	34	2		2	PPFIA1	11	70170552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1340118	70170552	64835964	12399	22716											
PPFIA1	8500	broad.mit.edu	37	chr11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattgctggaggaagccCggagacaaggtttacctttt	12	7	0	2	rs201951162	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	869					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R869W(1)|p.R869R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19691	0.0		0.001	False		,,,				2504	0.0					ENST00000253925.7																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R869W(1)|p.R869R(1)	lung(1)|prostate(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2605-2607)Cgg>Tgg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							124	119	121					11																	70208223		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208223C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2605C>T	11.37:g.70208223C>T	ENSP00000253925:p.Arg869Trp					PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W|AP000487.6_ENST00000528607.1_RNA	p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		20	2820	+			869					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2605C>T	CCDS31627.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.154992	0.78114	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.20332	2.08;2.08	5.42	4.5	0.54988	.	0.073250	0.53938	D	0.000041	T	0.41766	0.1173	M	0.61703	1.905	0.50813	D	0.999897	D;D	0.89917	0.999;1.0	P;D	0.66351	0.878;0.943	T	0.34925	-0.9809	10	0.66056	D	0.02	.	14.1851	0.65601	0.2859:0.7141:0.0:0.0	.	869;869	Q13136;Q13136-2	LIPA1_HUMAN;.	W	869;869;366	ENSP00000253925:R869W;ENSP00000374198:R869W	ENSP00000253925:R869W	R	+	1	2	PPFIA1	69885871	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.834000	0.39171	1.281000	0.44480	0.555000	0.69702	CGG		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		61	344	0	0	0	1	0	61	344					T	70208223	C	T	70208223	3	4	79	1	0	0	0	0	1	0	0	0	12351	643	23	1	2679	1	PPFIA1	11	70208223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37671	70208223	64798293	12400	22717											
PPFIA1	8500	broad.mit.edu	37	chr11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggtgacttcttctatGtcttccccctctatgcagcc	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1170					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCTTCTATGTCTTCCCCCT	0.498																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(3508-3510)atG>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							144	129	134					11																	70224261		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70224261G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3510G>A	11.37:g.70224261G>A	ENSP00000253925:p.Met1170Ile					AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I	p.M1170I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		26	3725	+			1170					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.3510G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399360	0.25291	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.15952	2.39;2.38	4.72	4.72	0.59763	.	0.311546	0.33092	U	0.005294	T	0.14743	0.0356	L	0.27053	0.805	0.41837	D	0.990101	B;B;B	0.14012	0.009;0.0;0.006	B;B;B	0.17098	0.017;0.001;0.005	T	0.05835	-1.0861	10	0.31617	T	0.26	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	667;1170;1170	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1170;1170;667;26	ENSP00000253925:M1170I;ENSP00000374198:M1170I	ENSP00000253925:M1170I	M	+	3	0	PPFIA1	69901909	1.000000	0.71417	0.663000	0.29738	0.128000	0.20619	5.863000	0.69568	2.180000	0.69256	0.561000	0.74099	ATG		0.498	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		88	428	0	0	0	1	0	88	428					A	70224261	G	A	70224261	3	1	79	1	0	0	0	0	1	0	0	0	12351	1377	48	2	3608	2	PPFIA1	11	70224261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16038	70224261	64782255	12401	22718											
CTTN	2017	broad.mit.edu	37	chr11	70256068	70256068	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagaccgaatggataaggTaagtggcccgcggctgccta	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATGGATAAGGTAAGTGGCCCG	0.522																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.e5+2		cortactin							139	139	139					11																	70256068		2200	4294	6494	SO:0001630	splice_region_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70256068T>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.291+2T>C	11.37:g.70256068T>C						CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000301843.8_Splice_Site		NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	5	599	+								Q8N707|Q96H99	Splice_Site	SNP	ENST00000301843.8	37		CCDS41680.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036166	0.19590	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69933716	1.000000	0.71417	0.073000	0.20177	0.021000	0.10359	4.852000	0.62904	1.873000	0.54277	0.460000	0.39030	.		0.522	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	Intron	23	747	0	0	0	1	0	23	747					C	70256068	T	C	70256068	5	2	79	1	0	0	0	0	0	0	1	0	4055	1652	57	4	303	4	CTTN	11	70256068	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31807	70256068	64750448	12402	22719											
SHANK2	22941	broad.mit.edu	37	chr11	70319395	70319395	+	Missense_Mutation	SNP	G	G	A													tctctgttggcgagaccacaGggcttggggcacgtcttgtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	ENST00000423696.2	-	16	4028	c.3992C>T	c.(3991-3993)cCt>cTt	p.P1331L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGC	0.622																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5131-5133)cCt>cTt		SH3 and multiple ankyrin repeat domains 2							56	57	57					11																	70319395		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319395G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3992C>T	11.37:g.70319395G>A	ENSP00000394536:p.Pro1331Leu					SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L	p.P1711L			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5131	-			1331					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5132C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148873	0.78001	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59083	1.8;1.81;2.57;0.29;1.89;1.96	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75072	0.3800	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.983;0.999;0.757	T	0.74262	-0.3722	10	0.59425	D	0.04	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115L;ENSP00000386491:P1114L;ENSP00000402944:P989L;ENSP00000345193:P1711L;ENSP00000394536:P1331L;ENSP00000294018:P1334L	ENSP00000294018:P1334L	P	-	2	0	SHANK2	69997043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.238000	0.65366	2.799000	0.96334	0.650000	0.86243	CCT		0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		70	317	0	0	0	1	0	70	317					A	70319395	G	A	70319395	3	1	79	1	0	0	0	0	1	0	0	0	14315	1000	35	2	424	2	SHANK2	11	70319395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63327	70319395	64687121	12403	22720	142	2									
SHANK2	22941	broad.mit.edu	37	chr11	70319396	70319396	+	Missense_Mutation	SNP	G	G	T													ctctgttggcgagaccacagGgcttggggcacgtcttgttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	ENST00000423696.2	-	16	4027	c.3991C>A	c.(3991-3993)Cct>Act	p.P1331T	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACCACAGGGCTTGGGGCA	0.627																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5131-5133)Cct>Act		SH3 and multiple ankyrin repeat domains 2							56	57	56					11																	70319396		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319396G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3991C>A	11.37:g.70319396G>T	ENSP00000394536:p.Pro1331Thr					SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T	p.P1711T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5130	-			1331					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5131C>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994457	0.74703	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.58940	1.81;1.83;2.58;0.3;1.91;1.98	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75250	0.3824	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;P	0.91635	0.962;0.999;0.894	T	0.75491	-0.3299	10	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115T;ENSP00000386491:P1114T;ENSP00000402944:P989T;ENSP00000345193:P1711T;ENSP00000394536:P1331T;ENSP00000294018:P1334T	ENSP00000294018:P1334T	P	-	1	0	SHANK2	69997044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.799000	0.96334	0.650000	0.86243	CCT		0.627	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		71	311	1	0	4.83677e-39	1	5.84255e-39	71	311					T	70319396	G	T	70319396	3	4	79	1	0	0	0	0	1	0	0	0	14315	1232	43	3	425	3	SHANK2	11	70319396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	70319396	64687120	12404	22721	142	2									
SHANK2	22941	broad.mit.edu	37	chr11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgggtccctgttgagActccttcatggctcggtccc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000423696.2	-	15	2587	c.2551T>G	c.(2551-2553)Tct>Gct	p.S851A	SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	851					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3691-3693)Tct>Gct		SH3 and multiple ankyrin repeat domains 2							59	67	64					11																	70332710		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332710A>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2551T>G	11.37:g.70332710A>C	ENSP00000394536:p.Ser851Ala					SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000423696.2_Missense_Mutation_p.S851A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A	p.S1231A			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3690	-			851					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3691T>G		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347053	0.24426	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	0.622	0.17648	.	0.321940	0.33253	N	0.005116	T	0.33469	0.0864	M	0.65975	2.015	0.80722	D	1	B;B;B	0.32188	0.245;0.359;0.009	B;B;B	0.36845	0.08;0.234;0.015	T	0.08249	-1.0731	10	0.29301	T	0.29	.	0.4194	0.00453	0.2304:0.3182:0.1853:0.2661	.	851;1230;635	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	635;634;509;1231;851;869;854	ENSP00000399423:S635A;ENSP00000386491:S634A;ENSP00000402944:S509A;ENSP00000345193:S1231A;ENSP00000394536:S851A;ENSP00000294018:S854A	ENSP00000294018:S854A	S	-	1	0	SHANK2	70010358	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	2.898000	0.48672	0.172000	0.19760	0.459000	0.35465	TCT		0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		71	458	0	0	0	1	0	71	458					C	70332710	A	C	70332710	3	2	79	1	0	0	0	0	1	0	0	0	14315	275	10	4	1869	4	SHANK2	11	70332710	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13314	70332710	64673806	12405	22722											
SHANK2	22941	broad.mit.edu	37	chr11	70333167	70333167	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgatggcggcggcaaaGgggctgctgacggtcaggct	19	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000423696.2	-	15	2130	c.2094C>A	c.(2092-2094)ccC>ccA	p.P698P	SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000338508.4_Silent_p.P1078P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	698					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3232-3234)ccC>ccA		SH3 and multiple ankyrin repeat domains 2							29	35	33					11																	70333167		2162	4210	6372	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333167G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2094C>A	11.37:g.70333167G>T						SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000423696.2_Silent_p.P698P|SHANK2_ENST00000449833.2_Silent_p.P482P	p.P1078P			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3233	-			698					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3234C>A																																																																																					0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		108	423	1	0	2.12943e-44	1	2.60573e-44	108	423					T	70333167	G	T	70333167	2	4	79	1	0	0	0	0	0	0	0	1	14315	987	35	3		3	SHANK2	11	70333167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	70333167	64673349	12406	22723											
DHCR7	1717	broad.mit.edu	37	chr11	71146496	71146496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggccgtacttgctggcGcagcggtgctcgtcccggag	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	451					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACTTGCTGGCGCAGCGGTGCT	0.662									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(1351-1353)tgC>tgT		7-dehydrocholesterol reductase	NADH(DB00157)						39	43	42					11																	71146496		2197	4293	6490	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146496G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1353C>T	11.37:g.71146496G>A						DHCR7_ENST00000407721.2_Silent_p.C451C	p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1629	-			451					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1353C>T	CCDS8200.1																																																																																				0.662	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		20	425	0	0	0	1	0	20	425					A	71146496	G	A	71146496	2	1	79	1	0	0	0	0	0	0	0	1	4493	1079	38	1		1	DHCR7	11	71146496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	813329	71146496	63860020	12407	22724											
DHCR7	1717	broad.mit.edu	37	chr11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataaggcagccagacacaGtcgccccagcccaggtacca	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	310					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCCAGACACAGTCGCCCCAGC	0.557									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(928-930)gaC>gaA		7-dehydrocholesterol reductase	NADH(DB00157)						86	79	81					11																	71148891		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71148891G>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.930C>A	11.37:g.71148891G>T	ENSP00000347717:p.Asp310Glu					DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			8	1206	-			310					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.930C>A	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040308|4.040308	0.75732|0.75732	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137|ENST00000534795	D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9|.	4.57|4.57	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.91300|0.91300	3.195|3.195	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74262|0.74262	-0.3722|-0.3722	10|5	0.52906|.	T|.	0.07|.	-43.5291|-43.5291	6.1902|6.1902	0.20520|0.20520	0.328:0.0:0.672:0.0|0.328:0.0:0.672:0.0	.|.	310|.	Q9UBM7|.	DHCR7_HUMAN|.	E|M	310;310;60;99|96	ENSP00000384739:D310E;ENSP00000347717:D310E;ENSP00000435011:D60E;ENSP00000435956:D99E|.	ENSP00000347717:D310E|.	D|L	-|-	3|1	2|2	DHCR7|DHCR7	70826539|70826539	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.767000|0.767000	0.43475|0.43475	2.734000|2.734000	0.47368|0.47368	0.360000|0.360000	0.24265|0.24265	0.561000|0.561000	0.74099|0.74099	GAC|CTG		0.557	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		28	328	1	0	7.01153e-11	1	7.45501e-11	28	328					T	71148891	G	T	71148891	3	4	79	1	0	0	0	0	1	0	0	0	4493	1020	36	3	505	3	DHCR7	11	71148891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2395	71148891	63857625	12408	22725											
DHCR7	1717	broad.mit.edu	37	chr11	71152458	71152458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggagccaggcttgcagGccattgatctgatacttgtt	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	147			G -> D (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGGCTTGCAGGCCATTGATCT	0.547									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(439-441)ggC>ggT		7-dehydrocholesterol reductase	NADH(DB00157)						137	106	117					11																	71152458		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152458G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.441C>T	11.37:g.71152458G>A						DHCR7_ENST00000407721.2_Silent_p.G147G	p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	717	-			147		G -> D (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.441C>T	CCDS8200.1																																																																																				0.547	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		22	128	0	0	0	1	0	22	128					A	71152458	G	A	71152458	2	1	79	1	0	0	0	0	0	0	0	1	4493	1190	42	2		2	DHCR7	11	71152458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3567	71152458	63854058	12409	22726											
NADSYN1	55191	broad.mit.edu	37	chr11	71183494	71183494	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcggtgttttcctctccaGgcacacagaggagtactttc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e6-1		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						94	84	87					11																	71183494		2200	4294	6494	SO:0001630	splice_region_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71183494G>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.408-1G>T	11.37:g.71183494G>T								NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			6	595	+								B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Splice_Site	SNP	ENST00000319023.2	37		CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701848	0.48307	.	.	ENSG00000172890	ENST00000319023	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5064	0.50468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NADSYN1	70861142	1.000000	0.71417	0.687000	0.30102	0.115000	0.19883	6.783000	0.75078	2.073000	0.62155	0.561000	0.74099	.		0.512	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	Intron	28	193	1	0	8.16277e-20	1	9.1228e-20	28	193					T	71183494	G	T	71183494	5	4	79	1	0	0	0	0	0	0	1	0	10179	1014	35	3	429	3	NADSYN1	11	71183494	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31036	71183494	63823022	12410	22727											
NADSYN1	55191	broad.mit.edu	37	chr11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagtactttctgcctcGgatgatacaggacctgacaa	11	9	1	3	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	145	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.001				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(433-435)cGg>cAg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	104	92	96		434	4.3	1	11	dbSNP_134	96	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	43	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	145/707	71183521	2,12986	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71183521G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.434G>A	11.37:g.71183521G>A	ENSP00000326424:p.Arg145Gln						p.R145Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			6	622	+			145			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.434G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296227	0.40594	4.55E-4	0.0	ENSG00000172890	ENST00000319023	D	0.87412	-2.25	4.26	4.26	0.50523	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.70787	2.145	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	D	0.87925	0.2706	10	0.23302	T	0.38	-32.6813	12.0571	0.53542	0.0:0.0:1.0:0.0	.	145	Q6IA69	NADE_HUMAN	Q	145	ENSP00000326424:R145Q	ENSP00000326424:R145Q	R	+	2	0	NADSYN1	70861169	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.044000	0.64214	2.214000	0.71695	0.561000	0.74099	CGG		0.547	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		28	179	0	0	0	1	0	28	179					A	71183521	G	A	71183521	3	1	79	1	0	0	0	0	1	0	0	0	10179	1116	39	1	456	1	NADSYN1	11	71183521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	71183521	63822995	12411	22728											
NADSYN1	55191	broad.mit.edu	37	chr11	71184618	71184618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctgcctgcagcccGcacatcgacatgggcctgga	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	184	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(550-552)ccG>ccA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						41	37	39					11																	71184618		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71184618G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.552G>A	11.37:g.71184618G>A							p.P184P	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			8	740	+			184			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.552G>A	CCDS8201.1																																																																																				0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		51	187	0	0	0	1	0	51	187					A	71184618	G	A	71184618	2	1	79	1	0	0	0	0	0	0	0	1	10179	1074	38	1		1	NADSYN1	11	71184618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097	71184618	63821898	12412	22729											
NADSYN1	55191	broad.mit.edu	37	chr11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatggggatgacatatgCggagctctcggtctatggga	15	6	2	2	rs371881712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	596	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1786-1788)gCg>gTg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	VAL/ALA	1,4399		0,1,2199	118	115	116		1787	2.7	0	11		116	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	64	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign	596/707	71208551	1,12987	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208551C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1787C>T	11.37:g.71208551C>T	ENSP00000326424:p.Ala596Val					NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V	p.A596V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			19	1975	+			596			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1787C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	9.137	1.012864	0.19277	2.27E-4	0.0	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45276	0.9;0.9;0.9	4.81	2.69	0.31865	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.853139	0.10244	N	0.697976	T	0.46814	0.1412	M	0.83012	2.62	0.09310	N	0.999998	B;B	0.21452	0.056;0.031	B;B	0.23419	0.046;0.037	T	0.44467	-0.9326	10	0.46703	T	0.11	-9.3763	8.6767	0.34183	0.1614:0.7441:0.0:0.0945	.	336;596	B3KUU4;Q6IA69	.;NADE_HUMAN	V	596;336;225	ENSP00000326424:A596V;ENSP00000443718:A336V;ENSP00000431820:A225V	ENSP00000326424:A596V	A	+	2	0	NADSYN1	70886199	0.023000	0.18921	0.003000	0.11579	0.111000	0.19643	2.339000	0.43965	1.031000	0.39867	0.591000	0.81541	GCG		0.527	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		25	212	0	0	0	1	0	25	212					T	71208551	C	T	71208551	3	4	79	1	0	0	0	0	1	0	0	0	10179	768	27	1	1861	1	NADSYN1	11	71208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23933	71208551	63797965	12413	22730											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71249545C>A	ENST00000398534.3	+	1	475	c.444C>A	c.(442-444)tgC>tgA	p.C148*		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgA		keratin associated protein 5-8							173	178	177					11																	71249545		2200	4294	6494	SO:0001587	stop_gained	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>A	11.37:g.71249545C>A	ENSP00000420723:p.Cys148*						p.C148*	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Nonsense_Mutation	SNP	ENST00000398534.3	37	c.444C>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	14.55	2.569775	0.45798	.	.	ENSG00000241233	ENST00000398534	.	.	.	1.57	0.625	0.17665	.	.	.	.	.	.	.	.	.	.	.	0.28850	N	0.896107	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.895	0.09135	0.0:0.578:0.0:0.422	.	.	.	.	X	148	.	ENSP00000420723:C148X	C	+	3	2	KRTAP5-8	70927193	1.000000	0.71417	0.839000	0.33178	0.348000	0.29142	0.572000	0.23684	0.231000	0.21079	0.655000	0.94253	TGC		0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		59	1522	1	0	7.41945e-09	1	7.77385e-09	59	1522					A	71249545	C	A	71249545	4	1	79	1	0	0	0	0	0	1	0	0	8598	805	28	3	446	3	KRTAP5-8	11	71249545	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40994	71249545	63756971	12414	22731											
FAM86C	55199	broad.mit.edu	37	chr11	71504503	71504503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggccaaggagtccacCcagggccaccggagctattt	12	13	0	1	rs576756514		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71504503C>T	ENST00000359244.4	+	3	260	c.237C>T	c.(235-237)acC>acT	p.T79T	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	79										lung(1)	1						AGGAGTCCACCCAGGGCCACC	0.597																																						ENST00000359244.4																			0				lung(1)	1						c.(235-237)acC>acT		family with sequence similarity 86, member C1							28	27	27					11																	71504503		2163	4260	6423	SO:0001819	synonymous_variant	55199							g.chr11:71504503C>T	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.237C>T	11.37:g.71504503C>T						FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000528685.1_Intron	p.T79T	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN			3	260	+			79					Q8N5D3	Silent	SNP	ENST00000359244.4	37	c.237C>T	CCDS41686.1																																																																																				0.597	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		6	311	0	0	0	1	0	6	311					T	71504503	C	T	71504503	2	4	79	1	0	0	0	0	0	0	0	1	5671	610	22	2		2	FAM86C	11	71504503	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254958	71504503	63502013	12415	22732											
NUMA1	10068	broad.mit.edu	37	chr11	71715829	71715829	+	IGR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggggtctccagttttcatctCctcatctgtgatggtgccca	10	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71715829C>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000393695.3_Nonsense_Mutation_p.E1955*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.E819*	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GTTTTCATCTCCTCATCTGTG	0.607																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5863-5865)Gag>Tag		nuclear mitotic apparatus protein 1							42	41	42					11																	71715829		2200	4293	6493	SO:0001628	intergenic_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715829C>A	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715829C>A						NUMA1_ENST00000351960.6_Nonsense_Mutation_p.E819*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*	p.E1955*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			24	6194	-			1955					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Nonsense_Mutation	SNP	ENST00000393703.4	37	c.5863G>T	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.390680|14.390680	0.99793|0.99793	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.111531|.	0.40385|.	N|.	0.001118|.	.|T	.|0.74809	.|0.3765	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73652	.|-0.3915	.|3	0.38643|.	T|.	0.18|.	.|.	18.5904|18.5904	0.91210|0.91210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	819;1941;1955;1504;928|803	.|.	ENSP00000260051:E819X|.	E|R	-|-	1|3	0|2	NUMA1|NUMA1	71393477|71393477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.264000|4.264000	0.58859|0.58859	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.607	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		8	221	1	0	0.00307968	1	0.00310409	8	221					A	71715829	C	A	71715829	1	1	79	0	1	0	0	0	0	0	0	0	10792	864	30	3		3	NUMA1	11	71715829	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211326	71715829	63290687	12416	22733											
NUMA1	4926	broad.mit.edu	37	chr11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttccttctgcagctgCtccaggctccgcagctgctc	9	15	1	0	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D|NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTGCAGCTGCTCCAGGCTCC	0.567			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4915-4917)gaG>gaT		nuclear mitotic apparatus protein 1																																				SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71720154C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4917G>T	11.37:g.71720154C>A	ENSP00000377298:p.Glu1639Asp					NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	p.E1639D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			19	5248	-			1639						Missense_Mutation	SNP	ENST00000393695.3	37	c.4917G>T	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352129|2.352129	0.41700|0.41700	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.44083|.	2.04;0.93;2.42|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.49305|.	D|.	0.000142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.32530|0.32530	0.975|0.975	0.32596|0.32596	N|N	0.526508|0.526508	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.996|.	D;D;D;D;D|.	0.83275|.	0.99;0.996;0.994;0.99;0.987|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.37606|.	T|.	0.19|.	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.7626:0.0:0.2374|0.0:0.7626:0.0:0.2374	.|.	1645;1109;1625;1639;503|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	D|I	503;1625;1639;1188;594|470	ENSP00000260051:E503D;ENSP00000351851:E1625D;ENSP00000377298:E1639D|.	ENSP00000260051:E503D|.	E|S	-|-	3|2	2|0	NUMA1|NUMA1	71397802|71397802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.788000|1.788000	0.38714|0.38714	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	GAG|AGC		0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			49	250	1	0	4.17463e-26	1	4.80398e-26	49	250					A	71720154	C	A	71720154	3	1	79	1	0	0	0	0	1	0	0	0	10792	796	28	3	1466	3	NUMA1	11	71720154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	71720154	63286362	12417	22734											
NUMA1	4926	broad.mit.edu	37	chr11	71726974	71726974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctctttggcctgctgCttcaggccagccagttcttg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.K525K|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTGCTGCTTCAGGCCAG	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1573-1575)aaG>aaA		nuclear mitotic apparatus protein 1							134	124	127					11																	71726974		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726974C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1575G>A	11.37:g.71726974C>T			OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K	p.K525K	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	1906	-			525						Silent	SNP	ENST00000393695.3	37	c.1575G>A	CCDS31633.1																																																																																				0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			207	777	0	0	0	1	0	207	777					T	71726974	C	T	71726974	2	4	79	1	0	0	0	0	0	0	0	1	10792	796	28	2		2	NUMA1	11	71726974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6820	71726974	63279542	12418	22735											
NUMA1	4926	broad.mit.edu	37	chr11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaaactgcacacaaagtCcagtctctctgacaccggct	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N|NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACACAAAGTCCAGTCTCTCT	0.468			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(184-186)Gac>Aac		nuclear mitotic apparatus protein 1							116	106	109					11																	71735344		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71735344C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.184G>A	11.37:g.71735344C>T	ENSP00000377298:p.Asp62Asn					NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	p.D62N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			5	515	-			62						Missense_Mutation	SNP	ENST00000393695.3	37	c.184G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447454	0.43429	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.84;0.84;0.84;0.84	5.12	2.04	0.26737	.	0.834455	0.11087	N	0.601215	T	0.19485	0.0468	N	0.02916	-0.46	0.24399	N	0.994715	B;B;B;B;B;B	0.30281	0.013;0.275;0.275;0.0;0.001;0.0	B;B;B;B;B;B	0.27076	0.004;0.076;0.076;0.002;0.003;0.001	T	0.19614	-1.0300	10	0.10902	T	0.67	.	8.1203	0.30967	0.0:0.7078:0.0:0.2922	.	62;62;62;62;62;62	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	N	62	ENSP00000260051:D62N;ENSP00000351851:D62N;ENSP00000377298:D62N;ENSP00000444880:D62N;ENSP00000442936:D62N;ENSP00000442761:D62N;ENSP00000439759:D62N;ENSP00000438821:D62N;ENSP00000438589:D62N;ENSP00000439092:D62N;ENSP00000444175:D62N;ENSP00000439576:D62N;ENSP00000357955:D62N;ENSP00000438331:D62N;ENSP00000438318:D62N;ENSP00000441598:D62N	ENSP00000260051:D62N	D	-	1	0	NUMA1	71412992	0.861000	0.29849	0.986000	0.45419	0.966000	0.64601	0.095000	0.15127	0.733000	0.32492	0.655000	0.94253	GAC		0.468	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			81	324	0	0	0	1	0	81	324					T	71735344	C	T	71735344	3	4	79	1	0	0	0	0	1	0	0	0	10792	855	30	2	6255	2	NUMA1	11	71735344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8370	71735344	63271172	12419	22736											
LRTOMT	220074	broad.mit.edu	37	chr11	71806076	71806076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaggtgaataagctggCtgtccttcctcggctccgta	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71806076C>T	ENST00000289488.2	+	5	749	c.371C>T	c.(370-372)gCt>gTt	p.A124V	LRTOMT_ENST00000440313.2_5'UTR|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000324866.7_Missense_Mutation_p.A124V|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000419228.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	124						cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						AATAAGCTGGCTGTCCTTCCT	0.562																																						ENST00000324866.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(370-372)gCt>gTt		leucine rich transmembrane and O-methyltransferase domain containing							103	98	100					11																	71806076		2200	4293	6493	SO:0001583	missense	220074					cytoplasm		g.chr11:71806076C>T		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"leucine rich repeat containing 51", "deafness, autosomal recessive 63"	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.371C>T	11.37:g.71806076C>T	ENSP00000289488:p.Ala124Val					LRTOMT_ENST00000440313.2_5'UTR|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V	p.A124V	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN			5	537	+			124					B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	ENST00000289488.2	37	c.371C>T	CCDS8208.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388637	0.61956	.	.	ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917	T;T;T;T;T;T;T;T	0.61627	0.09;0.35;0.09;0.09;0.35;0.35;0.35;0.35	5.46	5.46	0.80206	.	0.129035	0.49916	D	0.000131	T	0.53997	0.1831	L	0.53249	1.67	0.80722	D	1	B;B;B	0.31009	0.059;0.303;0.059	B;B;B	0.28232	0.087;0.069;0.055	T	0.54166	-0.8334	10	0.44086	T	0.13	-10.6208	16.2262	0.82293	0.0:1.0:0.0:0.0	.	106;124;124	Q96E66-6;Q96E66-2;Q96E66	.;.;LRC51_HUMAN	V	124;124;106;124;124;124;124;124	ENSP00000289488:A124V;ENSP00000414271:A124V;ENSP00000441249:A106V;ENSP00000444583:A124V;ENSP00000440693:A124V;ENSP00000395139:A124V;ENSP00000438522:A124V;ENSP00000443421:A124V	ENSP00000289488:A124V	A	+	2	0	LRTOMT	71483724	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.159000	0.42339	2.575000	0.86900	0.609000	0.83330	GCT		0.562	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309		10	435	0	0	0	1	0	10	435					T	71806076	C	T	71806076	3	4	79	1	0	0	0	0	1	0	0	0	9084	797	28	2	381	2	LRTOMT	11	71806076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70732	71806076	63200440	12420	22737											
FOLR3	2352	broad.mit.edu	37	chr11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacttccccactccagccGccctttgtgaaggcctctgg	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T|FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	185					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(679-681)Gcc>Acc		folate receptor 3 (gamma)	Folic Acid(DB00158)						40	45	43					11																	71850696		2199	4292	6491	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850696G>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.679G>A	11.37:g.71850696G>A	ENSP00000390338:p.Ala227Thr					FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T|FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T	p.A227T			P41439	FOLR3_HUMAN			5	750	+			185					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.679G>A		.	.	.	.	.	.	.	.	.	.	N	12.05	1.820448	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.76839	-1.05;-1.05;-1.05	2.94	-0.6	0.11642	Folate receptor-like (1);	0.923253	0.08805	U	0.891177	T	0.75221	0.3820	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.948	P;P	0.52793	0.709;0.7	T	0.62891	-0.6758	8	.	.	.	.	3.5719	0.07921	0.2756:0.0:0.5283:0.196	.	229;185	E9PGT2;P41439	.;FOLR3_HUMAN	T	227;229;186	ENSP00000390338:A227T;ENSP00000399235:A229T;ENSP00000411161:A186T	.	A	+	1	0	FOLR3	71528344	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.804000	0.27098	0.092000	0.17331	0.467000	0.42956	GCC		0.587	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		77	334	0	0	0	1	0	77	334					A	71850696	G	A	71850696	3	1	79	1	0	0	0	0	1	0	0	0	6008	1087	38	1	571	1	FOLR3	11	71850696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44620	71850696	63155820	12421	22738											
FOLR3	2352	broad.mit.edu	37	chr11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggccaagttctatgCtgcggccatgaatgctgggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	228					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(808-810)gCt>gTt		folate receptor 3 (gamma)	Folic Acid(DB00158)						37	39	38					11																	71850826		2199	4293	6492	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850826C>T	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.809C>T	11.37:g.71850826C>T	ENSP00000390338:p.Ala270Val					FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V|FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V	p.A270V			P41439	FOLR3_HUMAN			5	880	+			228					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.809C>T		.	.	.	.	.	.	.	.	.	.	N	12.66	2.005899	0.35415	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75477	-0.7;-0.7;-0.94	2.94	2.94	0.34122	.	0.329884	0.24267	U	0.040024	D	0.83505	0.5269	.	.	.	0.39347	D	0.965682	D;D	0.89917	0.997;1.0	D;D	0.76071	0.985;0.987	D	0.84804	0.0786	8	.	.	.	.	11.6457	0.51259	0.0:1.0:0.0:0.0	.	272;228	E9PGT2;P41439	.;FOLR3_HUMAN	V	270;272;229	ENSP00000390338:A270V;ENSP00000399235:A272V;ENSP00000411161:A229V	.	A	+	2	0	FOLR3	71528474	0.991000	0.36638	0.144000	0.22314	0.029000	0.11900	3.037000	0.49775	1.638000	0.50547	0.467000	0.42956	GCT		0.532	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		34	193	0	0	0	1	0	34	193					T	71850826	C	T	71850826	3	4	79	1	0	0	0	0	1	0	0	0	6008	797	28	2	701	2	FOLR3	11	71850826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	71850826	63155690	12422	22739											
FOLR1	2348	broad.mit.edu	37	chr11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaagtgcgcagtgggaGctgcctgccaacctttccat	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	173					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CGCAGTGGGAGCTGCCTGCCA	0.527																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(517-519)Gct>Act		folate receptor 1 (adult)							99	96	97					11																	71906964		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906964G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.517G>A	11.37:g.71906964G>A	ENSP00000377284:p.Ala173Thr					FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA	p.A173T			P15328	FOLR1_HUMAN			5	953	+			173					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.517G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	9.244	1.039153	0.19669	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.11	2.19	0.27852	Folate receptor-like (1);	0.469100	0.24499	N	0.037984	T	0.67804	0.2932	L	0.41710	1.295	0.20074	N	0.999932	P	0.40578	0.722	P	0.45946	0.498	T	0.54443	-0.8293	10	0.20519	T	0.43	-6.2945	3.6157	0.08077	0.2076:0.0:0.5941:0.1983	.	173	P15328	FOLR1_HUMAN	T	173	ENSP00000308137:A173T;ENSP00000377286:A173T;ENSP00000377284:A173T;ENSP00000377281:A173T	ENSP00000308137:A173T	A	+	1	0	FOLR1	71584612	0.000000	0.05858	0.319000	0.25293	0.014000	0.08584	0.030000	0.13688	0.473000	0.27368	-0.311000	0.09066	GCT		0.527	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		88	467	0	0	0	1	0	88	467					A	71906964	G	A	71906964	3	1	79	1	0	0	0	0	1	0	0	0	6006	971	34	2	531	2	FOLR1	11	71906964	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56138	71906964	63099552	12423	22740											
INPPL1	3636	broad.mit.edu	37	chr11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagctgttgcagctcAtgaagaacaagcactccaag	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V|INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	411					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(505-507)Atg>Gtg		inositol polyphosphate phosphatase-like 1							67	57	61					11																	71941873		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71941873A>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1231A>G	11.37:g.71941873A>G	ENSP00000298229:p.Met411Val					INPPL1_ENST00000298229.2_Missense_Mutation_p.M411V|INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V	p.M169V			O15357	SHIP2_HUMAN			11	1435	+			411					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.505A>G	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	a	16.23	3.063960	0.55432	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.94931	-3.56;-3.56;-3.56	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.46157	1.445	0.43499	D	0.995749	P	0.43788	0.817	B	0.38500	0.275	D	0.92645	0.6128	10	0.87932	D	0	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	411	O15357	SHIP2_HUMAN	V	411;169;169	ENSP00000298229:M411V;ENSP00000446360:M169V;ENSP00000444619:M169V	ENSP00000298229:M411V	M	+	1	0	INPPL1	71619521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.936000	0.92931	2.108000	0.64289	0.379000	0.24179	ATG		0.637	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		50	222	0	0	0	1	0	50	222					G	71941873	A	G	71941873	3	3	79	1	0	0	0	0	1	0	0	0	7791	217	8	4	1273	4	INPPL1	11	71941873	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34909	71941873	63064643	12424	22741											
INPPL1	3636	broad.mit.edu	37	chr11	71948167	71948167	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctgcttccacacccaGgttgaagccagagggagctc	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e26-1		inositol polyphosphate phosphatase-like 1							56	64	61					11																	71948167		2200	4293	6493	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948167G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2880-1G>T	11.37:g.71948167G>T						INPPL1_ENST00000298229.2_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site				O15357	SHIP2_HUMAN			26	3083	+								B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	37		CCDS8213.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429636	0.43122	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPPL1	71625815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.309000	0.72825	2.513000	0.84729	0.563000	0.77884	.		0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Intron	108	459	1	0	1.15724e-44	1	1.41663e-44	108	459					T	71948167	G	T	71948167	5	4	79	1	0	0	0	0	0	0	1	0	7791	1014	35	3	2981	3	INPPL1	11	71948167	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6294	71948167	63058349	12425	22742											
CLPB	81570	broad.mit.edu	37	chr11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccggccctgctggggaCcccgttccagctgtcctgtc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	107					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTGCTGGGGACCCCGTTCCAG	0.622											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(319-321)Gtc>Atc		ClpB caseinolytic peptidase B homolog (E. coli)							52	55	54					11																	72145200		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72145200C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.319G>A	11.37:g.72145200C>T	ENSP00000294053:p.Val107Ile		OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I	p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			1	492	-			107					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.319G>A	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364430|2.364430	0.41902|0.41902	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000535990;ENST00000437826|ENST00000294053;ENST00000538039;ENST00000340729	T;T|T;T;T	0.36157|0.66638	1.27;2.27|1.92;1.21;-0.22	4.51|4.51	3.57|3.57	0.40892|0.40892	.|.	.|0.224693	.|0.27451	.|N	.|0.019310	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.14661|0.14661	0.345|0.345	0.25689|0.25689	N|N	0.985717|0.985717	B|B;B;B	0.17667|0.24483	0.023|0.03;0.034;0.104	B|B;B;B	0.18263|0.24394	0.021|0.037;0.053;0.024	T|T	0.44997|0.44997	-0.9291|-0.9291	9|10	0.87932|0.52906	D|T	0|0.07	-9.4933|-9.4933	9.7795|9.7795	0.40640|0.40640	0.2059:0.7941:0.0:0.0|0.2059:0.7941:0.0:0.0	.|.	26|107;107;107	E7EWN6|F8W7P6;Q9H078-2;Q9H078	.|.;.;CLPB_HUMAN	D|I	76;26|107	ENSP00000443822:G76D;ENSP00000407296:G26D|ENSP00000294053:V107I;ENSP00000441518:V107I;ENSP00000340385:V107I	ENSP00000407296:G26D|ENSP00000294053:V107I	G|V	-|-	2|1	0|0	CLPB|CLPB	71822848|71822848	0.822000|0.822000	0.29219|0.29219	0.929000|0.929000	0.37066|0.37066	0.422000|0.422000	0.31414|0.31414	1.858000|1.858000	0.39408|0.39408	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.622	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		14	586	0	0	0	1	0	14	586					T	72145200	C	T	72145200	3	4	79	1	0	0	0	0	1	0	0	0	3560	507	18	2	1872	2	CLPB	11	72145200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197033	72145200	62861316	12426	22743											
PDE2A	5138	broad.mit.edu	37	chr11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcccggctgatgacagGgacacagagcatggcctgca	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	334	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTGATGACAGGGACACAGAGC	0.592																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1000-1002)Cct>Tct		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						72	63	66					11																	72299898		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72299898G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1000C>T	11.37:g.72299898G>A	ENSP00000334910:p.Pro334Ser					PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S	p.P334S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		13	1245	-			334			GAF 1.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1000C>T	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959321|4.959321	0.92726|0.92726	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|D;D;D;D;D;D	.|0.95447	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.25|5.25	5.25|5.25	0.73442|0.73442	.|GAF (2);	0.692859|0.692859	0.13673|0.13673	N|N	0.370724|0.370724	D|D	0.97247|0.97247	0.9100|0.9100	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.989;0.998;0.999;1.0;0.999	D|D	0.97102|0.97102	0.9798|0.9798	6|10	.|0.87932	.|D	.|0	.|.	17.4063|17.4063	0.87474|0.87474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;334;325;327;334	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	L|S	95|334;325;403;327;219;325;158	.|ENSP00000334910:P334S;ENSP00000411657:P325S;ENSP00000442256:P327S;ENSP00000410310:P219S;ENSP00000446399:P325S;ENSP00000439077:P158S	.|ENSP00000334910:P334S	P|P	-|-	2|1	0|0	PDE2A|PDE2A	71977546|71977546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.496000|9.496000	0.97967|0.97967	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT		0.592	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		77	295	0	0	0	1	0	77	295					A	72299898	G	A	72299898	3	1	79	1	0	0	0	0	1	0	0	0	11678	1232	43	2	1901	2	PDE2A	11	72299898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154698	72299898	62706618	12427	22744											
ARAP1	116985	broad.mit.edu	37	chr11	72408500	72408500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccccagccaacccatgaagtCcagccgccgctcgccctgta	8	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72408500C>A	ENST00000393609.3	-	21	3023	c.2821G>T	c.(2821-2823)Gac>Tac	p.D941Y	ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000359373.5_Missense_Mutation_p.D941Y|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	941					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCATGAAGTCCAGCCGCCGC	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2821-2823)Gac>Tac		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							19	22	21					11																	72408500		2199	4290	6489	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408500C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2821G>T	11.37:g.72408500C>A	ENSP00000377233:p.Asp941Tyr					ARAP1_ENST00000393609.3_Missense_Mutation_p.D941Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y	p.D941Y			Q96P48	ARAP1_HUMAN			21	3672	-			941					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2821G>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773975	0.90108	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.09	5.09	0.68999	Pleckstrin homology domain (1);	0.174867	0.47852	D	0.000210	T	0.60805	0.2297	M	0.72353	2.195	0.47374	D	0.999408	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.938;0.972;0.989;0.997	T	0.65113	-0.6247	10	0.87932	D	0	.	17.0879	0.86616	0.0:1.0:0.0:0.0	.	696;635;941;941;701	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Y	941;941;701;696;941;696;635;229;229	ENSP00000352332:D941Y;ENSP00000390461:D941Y;ENSP00000377230:D701Y;ENSP00000335506:D696Y;ENSP00000377233:D941Y;ENSP00000392264:D696Y;ENSP00000403127:D635Y;ENSP00000411452:D229Y;ENSP00000399118:D229Y	ENSP00000335506:D696Y	D	-	1	0	ARAP1	72086148	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.589000	0.67523	2.366000	0.80165	0.460000	0.39030	GAC		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		6	166	1	0	0.0293803	1	0.0294705	6	166					A	72408500	C	A	72408500	3	1	79	1	0	0	0	0	1	0	0	0	838	855	30	3	1591	3	ARAP1	11	72408500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108602	72408500	62598016	12428	22745											
ARAP1	116985	broad.mit.edu	37	chr11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactggccacgcgcacgGcccgtgggactcggctcggt	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000393609.3	-	6	981	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000359373.5_Missense_Mutation_p.A260V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	260					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(778-780)gCc>gTc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							139	118	125					11																	72423582		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423582G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.779C>T	11.37:g.72423582G>A	ENSP00000377233:p.Ala260Val					ARAP1_ENST00000393609.3_Missense_Mutation_p.A260V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V	p.A260V			Q96P48	ARAP1_HUMAN			6	1630	-			260					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.779C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453783	0.63290	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.24;3.19;3.24;3.18	4.34	4.34	0.51931	.	0.493437	0.17716	N	0.164432	T	0.06462	0.0166	L	0.27053	0.805	0.30659	N	0.754637	B;B;P;P;P	0.42908	0.437;0.437;0.793;0.689;0.573	B;B;B;B;B	0.35182	0.046;0.046;0.197;0.097;0.099	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.2025	0.54335	0.0:0.0:1.0:0.0	.	15;15;260;260;20	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	V	260;260;20;15;260;15;15;49	ENSP00000352332:A260V;ENSP00000390461:A260V;ENSP00000377230:A20V;ENSP00000335506:A15V;ENSP00000377233:A260V;ENSP00000392264:A15V;ENSP00000403127:A15V	ENSP00000335506:A15V	A	-	2	0	ARAP1	72101230	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	4.806000	0.62569	2.250000	0.74265	0.561000	0.74099	GCC		0.667	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		230	1014	0	0	0	1	0	230	1014					A	72423582	G	A	72423582	3	1	79	1	0	0	0	0	1	0	0	0	838	1203	42	2	3693	2	ARAP1	11	72423582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15082	72423582	62582934	12429	22746											
FCHSD2	9873	broad.mit.edu	37	chr11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgtaccgagtgtaaagTgccattactggtcactgcag	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000409418.4	-	13	1680	c.1297A>G	c.(1297-1299)Act>Gct	p.T433A	FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|RNU6-672P_ENST00000383911.1_RNA	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	433										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(1369-1371)Act>Gct		FCH and double SH3 domains 2							80	75	77					11																	72578921		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72578921T>C	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1297A>G	11.37:g.72578921T>C	ENSP00000386722:p.Thr433Ala					FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T433A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A	p.T457A			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		14	1537	-			433					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1369A>G	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	5.766	0.325774	0.10900	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.42131	2.58;2.67;2.69;2.55;0.98	5.78	4.62	0.57501	.	0.957063	0.08803	N	0.891462	T	0.14485	0.0350	N	0.00926	-1.1	0.28941	N	0.890961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15665	-1.0429	10	0.06625	T	0.88	-17.6345	8.3069	0.32047	0.3462:0.0:0.0:0.6538	.	297;433;377	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	A	377;457;433;297;377	ENSP00000308978:T377A;ENSP00000386987:T457A;ENSP00000386722:T433A;ENSP00000402972:T297A;ENSP00000386314:T377A	ENSP00000308978:T377A	T	-	1	0	FCHSD2	72256569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.518000	0.35877	2.198000	0.70561	0.533000	0.62120	ACT		0.418	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		13	74	0	0	0	1	0	13	74					C	72578921	T	C	72578921	3	2	79	1	0	0	0	0	1	0	0	0	5815	1696	59	4	957	4	FCHSD2	11	72578921	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155339	72578921	62427595	12430	22747											
P2RY2	5029	broad.mit.edu	37	chr11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A													gcaagtccgtgcgcaccatcGccgtggtgctggctgtcttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(742-744)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						106	96	99					11																	72945946		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945946G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.742G>A	11.37:g.72945946G>A	ENSP00000310305:p.Ala248Thr					P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	p.A248T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1209	+			248					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.742G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157056	0.38119	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.35236	1.32;1.32;1.32	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.122925	0.51477	D	0.000086	T	0.30070	0.0753	L	0.53671	1.685	0.33178	D	0.549133	P	0.39696	0.683	B	0.36845	0.234	T	0.50833	-0.8781	10	0.59425	D	0.04	.	6.7979	0.23734	0.2067:0.0:0.7933:0.0	.	248	P41231	P2RY2_HUMAN	T	248	ENSP00000377222:A248T;ENSP00000310305:A248T;ENSP00000377221:A248T	ENSP00000310305:A248T	A	+	1	0	P2RY2	72623594	0.960000	0.32886	0.666000	0.29783	0.606000	0.37113	2.458000	0.45014	2.170000	0.68504	0.561000	0.74099	GCC		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		107	388	0	0	0	1	0	107	388					A	72945946	G	A	72945946	3	1	79	1	0	0	0	0	1	0	0	0	11394	1087	38	1	744	1	P2RY2	11	72945946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367025	72945946	62060570	12431	22748	143	2									
P2RY2	5029	broad.mit.edu	37	chr11	72945948	72945948	+	Silent	SNP	C	C	T													aagtccgtgcgcaccatcgcCgtggtgctggctgtcttcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(742-744)gcC>gcT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						107	97	100					11																	72945948		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945948C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.744C>T	11.37:g.72945948C>T						P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	p.A248A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1211	+			248					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.744C>T	CCDS8219.1																																																																																				0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		99	400	0	0	0	1	0	99	400					T	72945948	C	T	72945948	2	4	79	1	0	0	0	0	0	0	0	1	11394	639	23	1		1	P2RY2	11	72945948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	72945948	62060568	12432	22749	143	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccctcaaggacgacgAcctatggtctagtaggggtt	14	9	2	1	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	403					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1207-1209)gAc>gTc		Rho guanine nucleotide exchange factor (GEF) 17																																				SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020891A>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1208A>T	11.37:g.73020891A>T	ENSP00000263674:p.Asp403Val						p.D403V	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1558	+			403					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1208A>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574003	0.45902	.	.	ENSG00000110237	ENST00000263674	T	0.67171	-0.25	4.32	4.32	0.51571	.	0.163752	0.29246	N	0.012717	T	0.59018	0.2163	L	0.27053	0.805	0.58432	D	0.999999	P	0.41748	0.761	P	0.46585	0.521	T	0.63651	-0.6589	10	0.87932	D	0	-12.0854	9.8212	0.40883	1.0:0.0:0.0:0.0	.	403	Q96PE2	ARHGH_HUMAN	V	403	ENSP00000263674:D403V	ENSP00000263674:D403V	D	+	2	0	ARHGEF17	72698539	1.000000	0.71417	0.912000	0.35992	0.766000	0.43426	6.063000	0.71162	1.821000	0.53095	0.379000	0.24179	GAC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		61	267	0	0	0	1	0	61	267					T	73020891	A	T	73020891	3	4	79	1	0	0	0	0	1	0	0	0	900	275	10	5	1210	5	ARHGEF17	11	73020891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74943	73020891	61985625	12433	22750											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtccctgcggcaccaGcccaatggatgggagagccc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1706					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5116-5118)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 17							23	24	24					11																	73074371		2199	4293	6492	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73074371G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5117G>A	11.37:g.73074371G>A	ENSP00000263674:p.Ser1706Asn						p.S1706N	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			15	5467	+			1706					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5117G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763094	0.69763	.	.	ENSG00000110237	ENST00000263674	T	0.60424	0.19	5.24	5.24	0.73138	.	0.046414	0.85682	D	0.000000	T	0.46889	0.1416	L	0.27053	0.805	0.52099	D	0.99994	P	0.36599	0.56	B	0.33121	0.158	T	0.52624	-0.8551	10	0.59425	D	0.04	-21.2442	18.2437	0.89977	0.0:0.0:1.0:0.0	.	1706	Q96PE2	ARHGH_HUMAN	N	1706	ENSP00000263674:S1706N	ENSP00000263674:S1706N	S	+	2	0	ARHGEF17	72752019	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.895000	0.87343	2.626000	0.88956	0.650000	0.86243	AGC		0.667	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		33	138	0	0	0	1	0	33	138					A	73074371	G	A	73074371	3	1	79	1	0	0	0	0	1	0	0	0	900	971	34	2	5175	2	ARHGEF17	11	73074371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53480	73074371	61932145	12434	22751											
RELT	84957	broad.mit.edu	37	chr11	73103471	73103471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggctaccactgcacgGcgcacaaggaggtcgggccc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73103471G>A	ENST00000064780.2	+	6	844	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	RELT_ENST00000393580.2_Missense_Mutation_p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	195						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCACTGCACGGCGCACAAGGA	0.682																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(583-585)Gcg>Acg		RELT tumor necrosis factor receptor							43	47	45					11																	73103471		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103471G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.583G>A	11.37:g.73103471G>A	ENSP00000064780:p.Ala195Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A195T	p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	844	+			195					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.583G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701646	0.15172	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.71461	-0.57;-0.57	5.69	3.84	0.44239	.	0.245949	0.40302	N	0.001131	T	0.49712	0.1573	N	0.03209	-0.39	0.43673	D	0.996101	P	0.47604	0.898	P	0.51615	0.675	T	0.54957	-0.8215	10	0.02654	T	1	-21.6908	8.3317	0.32191	0.0787:0.0:0.7666:0.1547	.	195	Q969Z4	TR19L_HUMAN	T	195	ENSP00000064780:A195T;ENSP00000377207:A195T	ENSP00000064780:A195T	A	+	1	0	RELT	72781119	0.982000	0.34865	0.105000	0.21289	0.239000	0.25481	2.100000	0.41777	0.779000	0.33543	-0.226000	0.12346	GCG		0.682	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		7	215	0	0	0	1	0	7	215					A	73103471	G	A	73103471	3	1	79	1	0	0	0	0	1	0	0	0	13271	1203	42	2	601	2	RELT	11	73103471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29100	73103471	61903045	12435	22752											
PLEKHB1	58473	broad.mit.edu	37	chr11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgctacagcgccggcGcccctctggccatgggcatg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|Y_RNA_ENST00000516923.1_RNA	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	217					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(649-651)Gcc>Acc		pleckstrin homology domain containing, family B (evectins) member 1							35	39	38					11																	73372564		1985	4143	6128	SO:0001583	missense	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73372564G>A	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.649G>A	11.37:g.73372564G>A	ENSP00000346127:p.Ala217Thr		OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T	p.A217T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			8	1080	+			217					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	c.649G>A	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244204	0.59103	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000541597;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	.	0.235619	0.43110	D	0.000609	T	0.36524	0.0970	N	0.08118	0	0.30350	N	0.784885	P;D;D	0.65815	0.724;0.976;0.995	B;B;P	0.54312	0.15;0.417;0.748	T	0.34204	-0.9838	9	0.48119	T	0.1	-5.9888	15.1153	0.72397	0.0:0.0:1.0:0.0	.	186;182;217	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	T	217;182;163;198;112;133;163;163;170	.	ENSP00000227214:A163T	A	+	1	0	PLEKHB1	73050212	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.200000	0.58433	2.677000	0.91161	0.561000	0.74099	GCC		0.682	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			80	348	0	0	0	1	0	80	348					A	73372564	G	A	73372564	3	1	79	1	0	0	0	0	1	0	0	0	12106	1087	38	1	679	1	PLEKHB1	11	73372564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269093	73372564	61633952	12436	22753											
MRPL48	51642	broad.mit.edu	37	chr11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattcatctgactgcatatGatatgaccctggcagagagt	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000310614.7	+	5	951	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000542303.1_Intron	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	99						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GACTGCATATGATATGACCCT	0.418																																						ENST00000535529.1																			0				kidney(1)	1						c.(241-243)Gat>Aat		mitochondrial ribosomal protein L48							97	90	92					11																	73555945		1856	4088	5944	SO:0001583	missense	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555945G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.295G>A	11.37:g.73555945G>A	ENSP00000308717:p.Asp99Asn					MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Missense_Mutation_p.D99N|MRPL48_ENST00000411840.2_5'UTR	p.D81N			Q96GC5	RM48_HUMAN			6	453	+			99					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	c.241G>A	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808917	0.90707	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.64085	-0.08	5.53	5.53	0.82687	.	0.044994	0.85682	D	0.000000	T	0.73281	0.3567	M	0.72353	2.195	0.58432	D	0.999995	D;D	0.63880	0.993;0.991	P;P	0.61477	0.889;0.831	T	0.74453	-0.3660	10	0.51188	T	0.08	-13.9634	10.4017	0.44233	0.0889:0.0:0.9111:0.0	.	81;99	B4DN34;Q96GC5	.;RM48_HUMAN	N	99;81	ENSP00000308717:D99N	ENSP00000308717:D99N	D	+	1	0	MRPL48	73233593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.600000	0.87896	0.591000	0.81541	GAT		0.418	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		56	216	0	0	0	1	0	56	216					A	73555945	G	A	73555945	3	1	79	1	0	0	0	0	1	0	0	0	9853	1290	45	2	313	2	MRPL48	11	73555945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183381	73555945	61450571	12437	22754											
MRPL48	51642	broad.mit.edu	37	chr11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcttaccacccatgagCgagtggttcaggtaggcact	12	11	1	1	rs137907774	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000310614.7	+	6	1119	c.463C>T	c.(463-465)Cga>Tga	p.R155*	MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*|MRPL48_ENST00000542303.1_Intron	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155						mitochondrial ribosome (GO:0005761)				kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438																																						ENST00000314282.7																			0				kidney(1)	1						c.(166-168)Cga>Tga		mitochondrial ribosomal protein L48							59	57	58					11																	73571043		1899	4126	6025	SO:0001587	stop_gained	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73571043C>T	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.463C>T	11.37:g.73571043C>T	ENSP00000308717:p.Arg155*					MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Nonsense_Mutation_p.R155*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*	p.R56*			Q96GC5	RM48_HUMAN			3	1517	+			155					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Nonsense_Mutation	SNP	ENST00000310614.7	37	c.166C>T	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	C	41	8.561256	0.98863	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000314282	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0739	12.9338	0.58303	0.1619:0.8381:0.0:0.0	rs11547693	.	.	.	X	155;137;56;56;56	.	ENSP00000308717:R155X	R	+	1	2	MRPL48	73248691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	2.937000	0.99478	0.650000	0.86243	CGA		0.438	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		23	107	0	0	0	1	0	23	107					T	73571043	C	T	73571043	4	4	79	1	0	0	0	0	0	1	0	0	9853	760	27	1	485	1	MRPL48	11	73571043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15098	73571043	61435473	12438	22755											
MRPL48	51642	broad.mit.edu	37	chr11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagaagacttcaagggacGattcaaagctcgaccagaac	10	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000310614.7	+	8	1246	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197						mitochondrial ribosome (GO:0005761)				kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433																																						ENST00000314282.7																			0				kidney(1)	1						c.(292-294)cGa>cAa		mitochondrial ribosomal protein L48							67	61	63					11																	73575366		1868	4112	5980	SO:0001583	missense	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73575366G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.590G>A	11.37:g.73575366G>A	ENSP00000308717:p.Arg197Gln					MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000310614.7_Missense_Mutation_p.R197Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q	p.R98Q			Q96GC5	RM48_HUMAN			5	1644	+			197					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	c.293G>A	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521329	0.96416	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.64618	0.05;-0.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82768	-0.0294	10	0.72032	D	0.01	-38.8651	18.0523	0.89353	0.0:0.0:1.0:0.0	.	179;197	B4DN34;Q96GC5	.;RM48_HUMAN	Q	197;179;98;98;106;98	ENSP00000308717:R197Q;ENSP00000443685:R106Q	ENSP00000308717:R197Q	R	+	2	0	MRPL48	73253014	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.613000	0.82986	2.937000	0.99478	0.650000	0.86243	CGA		0.433	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		19	104	0	0	0	1	0	19	104					A	73575366	G	A	73575366	3	1	79	1	0	0	0	0	1	0	0	0	9853	1058	37	1	620	1	MRPL48	11	73575366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4323	73575366	61431150	12439	22756											
CHCHD8	51287	broad.mit.edu	37	chr11	73584383	73584383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcgtctttcttcaccCgttgggtccaggtatggcct	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73584383C>T	ENST00000355693.4	-	2	288	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	COA4_ENST00000545127.1_Missense_Mutation_p.R14Q|COA4_ENST00000541455.1_Missense_Mutation_p.R23Q|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000537289.1_Missense_Mutation_p.R14Q	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	14						mitochondrion (GO:0005739)											TTTCTTCACCCGTTGGGTCCA	0.547																																						ENST00000541455.1																			0											c.(67-69)cGg>cAg		cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)							66	74	71					11																	73584383		2200	4293	6493	SO:0001583	missense	51287							g.chr11:73584383C>T	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"Coiled-coil-helix-coiled-coil-helix domain containing", "Mitochondrial respiratory chain complex assembly factors"	24604	protein-coding gene	gene with protein product		608016	"coiled-coil-helix-coiled-coil-helix domain containing 8"	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.41G>A	11.37:g.73584383C>T	ENSP00000347919:p.Arg14Gln					COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000355693.4_Missense_Mutation_p.R14Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q	p.R23Q							2	461	-								B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	37	c.68G>A	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160663	0.01686	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.17	-2.03	0.07365	.	0.455201	0.24927	N	0.034483	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.08599	T	0.76	-0.3931	5.6892	0.17821	0.0:0.2297:0.4126:0.3577	.	14	Q9NYJ1	CHCH8_HUMAN	Q	14;14;23;14	.	ENSP00000347919:R14Q	R	-	2	0	CHCHD8	73262031	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.336000	0.07863	-0.257000	0.09459	-1.073000	0.02249	CGG		0.547	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		12	392	0	0	0	1	0	12	392					T	73584383	C	T	73584383	3	4	79	1	0	0	0	0	1	0	0	0	3331	652	23	1	226	1	CHCHD8	11	73584383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9017	73584383	61422133	12440	22757											
PAAF1	80227	broad.mit.edu	37	chr11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaggagcaccagttcTatccctgctaagtgtcagag	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000310571.3	+	10	1030	c.977T>C	c.(976-978)cTa>cCa	p.L326P	PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000544909.1_Missense_Mutation_p.L327P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	326					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(979-981)cTa>cCa		proteasomal ATPase-associated factor 1							130	120	123					11																	73630036		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73630036T>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.977T>C	11.37:g.73630036T>C	ENSP00000311665:p.Leu326Pro					PAAF1_ENST00000310571.3_Missense_Mutation_p.L326P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P	p.L327P			Q9BRP4	PAAF1_HUMAN			8	1237	+	Breast(11;7.42e-05)		326					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.980T>C	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184042	0.57800	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.292711	0.23265	N	0.050091	T	0.37100	0.0991	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.971;0.994	P;P	0.55713	0.753;0.782	T	0.11567	-1.0582	10	0.36615	T	0.2	-3.0581	13.0093	0.58722	0.0:0.0:0.0:1.0	.	309;326	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	P	211;326;211;309;309;309;327	ENSP00000441333:L211P;ENSP00000311665:L326P;ENSP00000438789:L211P;ENSP00000438124:L309P;ENSP00000441494:L309P;ENSP00000365564:L309P;ENSP00000438071:L327P	ENSP00000311665:L326P	L	+	2	0	PAAF1	73307684	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	3.498000	0.53302	1.949000	0.56562	0.533000	0.62120	CTA		0.428	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		44	156	0	0	0	1	0	44	156					C	73630036	T	C	73630036	3	2	79	1	0	0	0	0	1	0	0	0	11404	1522	53	4	1015	4	PAAF1	11	73630036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45653	73630036	61376480	12441	22758											
UCP3	7352	broad.mit.edu	37	chr11	73712499	73712499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggactttcatcagggcCcgtttcagctgctcataggt	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000348534.4_Silent_p.R197R|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	299	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(895-897)cgG>cgA		uncoupling protein 3 (mitochondrial, proton carrier)							153	118	130					11																	73712499		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73712499C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.897G>A	11.37:g.73712499C>T						UCP3_ENST00000348534.4_Silent_p.R197R	p.R299R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			7	1449	-	Breast(11;2.08e-05)		299			Purine nucleotide binding (By similarity).		O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.897G>A	CCDS8229.1																																																																																				0.453	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		48	250	0	0	0	1	0	48	250					T	73712499	C	T	73712499	2	4	79	1	0	0	0	0	0	0	0	1	16986	610	22	2		2	UCP3	11	73712499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82463	73712499	61294017	12442	22759											
UCP3	7352	broad.mit.edu	37	chr11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgagttcatataccGggtcttcaccacgtccaccg	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	244					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(730-732)Cgg>Tgg		uncoupling protein 3 (mitochondrial, proton carrier)							63	64	64					11																	73714966		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73714966G>A	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.730C>T	11.37:g.73714966G>A	ENSP00000323740:p.Arg244Trp					UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W	p.R244W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			6	1282	-	Breast(11;2.08e-05)		244					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.730C>T	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379920	0.95945	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.84589	-1.82;-1.87;-1.82	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	-0.9863	18.4155	0.90568	0.0:0.0:1.0:0.0	.	244	P55916	UCP3_HUMAN	W	244;142;244	ENSP00000323740:R244W;ENSP00000343615:R142W;ENSP00000392143:R244W	ENSP00000323740:R244W	R	-	1	2	UCP3	73392614	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.504000	0.60414	2.528000	0.85240	0.655000	0.94253	CGG		0.592	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		88	381	0	0	0	1	0	88	381					A	73714966	G	A	73714966	3	1	79	1	0	0	0	0	1	0	0	0	16986	1115	39	1	220	1	UCP3	11	73714966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2467	73714966	61291550	12443	22760											
C2CD3	26005	broad.mit.edu	37	chr11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttttcaaccacttggGtgtatacaggagatgactca	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000334126.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1679	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACCACTTGGGTGTATACAGG	0.443																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5035-5037)aCc>aAc		C2 calcium-dependent domain containing 3							120	118	118					11																	73768505		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73768505G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5036C>A	11.37:g.73768505G>T	ENSP00000334379:p.Thr1679Asn					C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N	p.T1679N			Q4AC94	C2CD3_HUMAN			25	5262	-	Breast(11;4.16e-06)		1679			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5036C>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364919	0.82463	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.74632	-0.86;-0.86;-0.86	5.03	5.03	0.67393	.	0.050138	0.85682	D	0.000000	D	0.82365	0.5021	M	0.63843	1.955	0.46131	D	0.998889	P	0.52463	0.953	P	0.56434	0.798	D	0.84574	0.0657	10	0.87932	D	0	-9.0877	18.3221	0.90242	0.0:0.0:1.0:0.0	.	1679	Q4AC94-1	.	N	1679;1679;1660;487	ENSP00000334379:T1679N;ENSP00000323339:T1679N;ENSP00000388750:T487N	ENSP00000323339:T1679N	T	-	2	0	C2CD3	73446153	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.053000	0.89449	2.505000	0.84491	0.650000	0.86243	ACC		0.443	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		98	481	1	0	1.54295e-31	1	1.81717e-31	98	481					T	73768505	G	T	73768505	3	4	79	1	0	0	0	0	1	0	0	0	2161	1261	44	3	883	3	C2CD3	11	73768505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53539	73768505	61238011	12444	22761											
C2CD3	26005	broad.mit.edu	37	chr11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccttaggcttcttgagaGgggtccaaaaggcttcatga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000334126.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1450					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTCTTGAGAGGGGTCCAAAA	0.453																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4348-4350)cCt>cAt		C2 calcium-dependent domain containing 3							85	80	82					11																	73789414		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789414G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4349C>A	11.37:g.73789414G>T	ENSP00000334379:p.Pro1450His					C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H	p.P1450H			Q4AC94	C2CD3_HUMAN			23	4575	-	Breast(11;4.16e-06)		1450					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4349C>A		.	.	.	.	.	.	.	.	.	.	G	17.30	3.355783	0.61293	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89875	-2.58;-2.58;-2.58	5.35	5.35	0.76521	.	0.393546	0.28203	N	0.016218	D	0.91442	0.7299	L	0.42245	1.32	0.31271	N	0.691796	D	0.89917	1.0	D	0.72338	0.977	D	0.90329	0.4350	10	0.51188	T	0.08	-8.1999	13.3976	0.60863	0.0776:0.0:0.9224:0.0	.	1450	Q4AC94-1	.	H	1450;1450;1431;258	ENSP00000334379:P1450H;ENSP00000323339:P1450H;ENSP00000388750:P258H	ENSP00000323339:P1450H	P	-	2	0	C2CD3	73467062	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.187000	0.42602	2.502000	0.84385	0.650000	0.86243	CCT		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		20	427	1	0	4.63292e-17	1	5.10507e-17	20	427					T	73789414	G	T	73789414	3	4	79	1	0	0	0	0	1	0	0	0	2161	1000	35	3	1578	3	C2CD3	11	73789414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20909	73789414	61217102	12445	22762											
C2CD3	26005	broad.mit.edu	37	chr11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattacctgatgactggTtcctcaattctttcctgttc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000334126.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1169	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGATGACTGGTTCCTCAATTC	0.398																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3505-3507)aAc>aGc		C2 calcium-dependent domain containing 3							126	121	123					11																	73803472		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73803472T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3506A>G	11.37:g.73803472T>C	ENSP00000334379:p.Asn1169Ser					C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S	p.N1169S			Q4AC94	C2CD3_HUMAN			19	3732	-	Breast(11;4.16e-06)		1169			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3506A>G		.	.	.	.	.	.	.	.	.	.	T	1.677	-0.507468	0.04231	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.4	1.74	0.24563	.	0.660446	0.16439	N	0.214374	T	0.02012	0.0063	N	0.02011	-0.69	0.24298	N	0.995133	B	0.02656	0.0	B	0.04013	0.001	T	0.43163	-0.9408	10	0.06365	T	0.9	-7.8523	1.3094	0.02094	0.123:0.1822:0.2526:0.4423	.	1169	Q4AC94-1	.	S	1169	ENSP00000334379:N1169S;ENSP00000323339:N1169S	ENSP00000323339:N1169S	N	-	2	0	C2CD3	73481120	0.998000	0.40836	0.954000	0.39281	0.890000	0.51754	0.780000	0.26760	0.333000	0.23563	0.363000	0.22086	AAC		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		130	464	0	0	0	1	0	130	464					C	73803472	T	C	73803472	3	2	79	1	0	0	0	0	1	0	0	0	2161	1725	60	4	2437	4	C2CD3	11	73803472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14058	73803472	61203044	12446	22763											
C2CD3	26005	broad.mit.edu	37	chr11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccatagctaaaaagactCgaagactcccattttggtgg	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000334126.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAAAAGACTCGAAGACTCCC	0.468																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2842-2844)cGa>cAa		C2 calcium-dependent domain containing 3							96	101	100					11																	73809190		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73809190C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2843G>A	11.37:g.73809190C>T	ENSP00000334379:p.Arg948Gln					C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q	p.R948Q			Q4AC94	C2CD3_HUMAN			16	3069	-	Breast(11;4.16e-06)		948					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2843G>A		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808921	0.90707	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	.	0.055819	0.64402	D	0.000002	T	0.51517	0.1679	L	0.37630	1.12	0.37872	D	0.930098	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.59425	D	0.04	-9.4236	9.4907	0.38958	0.0:0.7798:0.1446:0.0755	.	948	Q4AC94-1	.	Q	948	ENSP00000334379:R948Q;ENSP00000323339:R948Q	ENSP00000323339:R948Q	R	-	2	0	C2CD3	73486838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.794000	0.96219	0.650000	0.86243	CGA		0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		75	403	0	0	0	1	0	75	403					T	73809190	C	T	73809190	3	4	79	1	0	0	0	0	1	0	0	0	2161	884	31	1	3112	1	C2CD3	11	73809190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5718	73809190	61197326	12447	22764											
C2CD3	26005	broad.mit.edu	37	chr11	73814404	73814404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaattatgggaggctggCgtagctacgaaggttgaagg	15	5	0	1	rs147082398	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000334126.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458													C|||	15	0.00299521	0.0	0.0	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0153					ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2350-2352)acG>acA		C2 calcium-dependent domain containing 3		C		0,4400		0,0,2200	185	162	170		2352	3	0.5	11	dbSNP_134	170	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	C2CD3	NM_015531.4		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		784/1964	73814404	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73814404C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2352G>A	11.37:g.73814404C>T						C2CD3_ENST00000313663.7_Silent_p.T784T	p.T784T			Q4AC94	C2CD3_HUMAN			14	2578	-	Breast(11;4.16e-06)		784					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.2352G>A																																																																																					0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		94	413	0	0	0	1	0	94	413					T	73814404	C	T	73814404	2	4	79	1	0	0	0	0	0	0	0	1	2161	755	27	1		1	C2CD3	11	73814404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5214	73814404	61192112	12448	22765											
C2CD3	26005	broad.mit.edu	37	chr11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggttggggagcaccaagttCtgtgctttctttgcagtttc	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000334126.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	761					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCACCAAGTTCTGTGCTTTCT	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2281-2283)caG>caT		C2 calcium-dependent domain containing 3							206	207	207					11																	73814473		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814473C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2283G>T	11.37:g.73814473C>A	ENSP00000334379:p.Gln761His					C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H	p.Q761H			Q4AC94	C2CD3_HUMAN			14	2509	-	Breast(11;4.16e-06)		761					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2283G>T		.	.	.	.	.	.	.	.	.	.	C	12.90	2.077006	0.36662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11169	2.8;2.83	5.81	2.59	0.31030	.	0.837535	0.11047	N	0.605427	T	0.24470	0.0593	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.07731	-1.0757	10	0.66056	D	0.02	-0.3047	5.2091	0.15307	0.0:0.5886:0.1741:0.2374	.	761	Q4AC94-1	.	H	761	ENSP00000334379:Q761H;ENSP00000323339:Q761H	ENSP00000323339:Q761H	Q	-	3	2	C2CD3	73492121	0.981000	0.34729	0.078000	0.20375	0.089000	0.18198	1.026000	0.30103	1.457000	0.47850	0.650000	0.86243	CAG		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		77	372	1	0	3.12118e-38	1	3.75939e-38	77	372					A	73814473	C	A	73814473	3	1	79	1	0	0	0	0	1	0	0	0	2161	912	32	3	3680	3	C2CD3	11	73814473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	73814473	61192043	12449	22766											
C2CD3	26005	broad.mit.edu	37	chr11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgcaaagcatacatgGtcttttcccctgttttttta	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000334126.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E|C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	239					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCATACATGGTCTTTTCCCC	0.363																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(715-717)gaC>gaA		C2 calcium-dependent domain containing 3							63	61	62					11																	73850003		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73850003G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.717C>A	11.37:g.73850003G>T	ENSP00000334379:p.Asp239Glu					C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E	p.D239E			Q4AC94	C2CD3_HUMAN			5	943	-	Breast(11;4.16e-06)		239					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.717C>A		.	.	.	.	.	.	.	.	.	.	G	14.06	2.422539	0.43020	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11169	2.8;2.86	5.84	4.93	0.64822	.	0.054285	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76002	2.32	0.31437	N	0.67244	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.17715	-1.0360	10	0.59425	D	0.04	-14.0972	11.5079	0.50476	0.0835:0.0:0.9165:0.0	.	239;239	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	239	ENSP00000334379:D239E;ENSP00000323339:D239E	ENSP00000289350:D239E	D	-	3	2	C2CD3	73527651	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.400000	0.44504	2.771000	0.95319	0.655000	0.94253	GAC		0.363	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		35	166	1	0	9.80977e-26	1	1.12711e-25	35	166					T	73850003	G	T	73850003	3	4	79	1	0	0	0	0	1	0	0	0	2161	1252	44	3	5282	3	C2CD3	11	73850003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35530	73850003	61156513	12450	22767											
P4HA3	283208	broad.mit.edu	37	chr11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcacgctgaggttggCatagatgaaggctgtggctc	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	481	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAGGTTGGCATAGATGAAG	0.582																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(1441-1443)Gcc>Acc		prolyl 4-hydroxylase, alpha polypeptide III							102	84	90					11																	73980723		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:73980723C>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1441G>A	11.37:g.73980723C>T	ENSP00000332170:p.Ala481Thr					P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			11	1486	-	Breast(11;2.31e-05)		481			Fe2OG dioxygenase.		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.1441G>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693484	0.48202	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.59083	1.59;0.29	5.25	4.33	0.51752	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.096594	0.64402	D	0.000001	T	0.70369	0.3216	M	0.63169	1.94	0.44728	D	0.997721	D;B	0.69078	0.997;0.136	D;B	0.65323	0.934;0.142	T	0.72883	-0.4157	10	0.54805	T	0.06	-8.3059	13.6279	0.62178	0.0:0.8435:0.1565:0.0	.	481;481	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	T	481	ENSP00000332170:A481T;ENSP00000401749:A481T	ENSP00000332170:A481T	A	-	1	0	P4HA3	73658371	1.000000	0.71417	0.993000	0.49108	0.410000	0.31052	4.766000	0.62279	1.445000	0.47624	-0.175000	0.13238	GCC		0.582	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		38	294	0	0	0	1	0	38	294					T	73980723	C	T	73980723	3	4	79	1	0	0	0	0	1	0	0	0	11400	710	25	2	205	2	P4HA3	11	73980723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130720	73980723	61025793	12451	22768											
PGM2L1	283209	broad.mit.edu	37	chr11	74049647	74049647	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttactcacaggcagcacCtatgcaaaatggcaacaaca	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1						glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGGCAGCACCTATGCAAAAT	0.343																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.e13-1		phosphoglucomutase 2-like 1							101	90	94					11																	74049647		2200	4293	6493	SO:0001630	splice_region_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74049647C>A	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1633-1G>T	11.37:g.74049647C>A								NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			13	1944	-	Breast(11;3.32e-06)							Q96MQ7|Q9UIK3	Splice_Site	SNP	ENST00000298198.4	37		CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403256	0.62288	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4863	0.55874	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	PGM2L1	73727295	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.484000	0.81180	1.460000	0.47911	0.563000	0.77884	.		0.343	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	Intron	61	341	1	0	5.08636e-23	1	5.77245e-23	61	341					A	74049647	C	A	74049647	5	1	79	1	0	0	0	0	0	0	1	0	11841	695	24	3	244	3	PGM2L1	11	74049647	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	74049647	60956869	12452	22769											
PGM2L1	283209	broad.mit.edu	37	chr11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactcttcaaatgcaaaaAggacttctttcccattttcc	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	430					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAATGCAAAAAGGACTTCTTT	0.318																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1288-1290)cTt>cCt		phosphoglucomutase 2-like 1							65	66	66					11																	74054391		2200	4292	6492	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74054391A>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1289T>C	11.37:g.74054391A>G	ENSP00000298198:p.Leu430Pro						p.L430P	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			10	1600	-	Breast(11;3.32e-06)		430					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1289T>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064889	0.76187	.	.	ENSG00000165434	ENST00000298198	T	0.47177	0.85	5.92	5.92	0.95590	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.225935	0.37955	N	0.001868	T	0.65428	0.2690	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.65734	-0.6096	10	0.48119	T	0.1	-21.5015	14.3046	0.66377	1.0:0.0:0.0:0.0	.	430	Q6PCE3	PGM2L_HUMAN	P	430	ENSP00000298198:L430P	ENSP00000298198:L430P	L	-	2	0	PGM2L1	73732039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.255000	0.74692	0.533000	0.62120	CTT		0.318	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		67	279	0	0	0	1	0	67	279					G	74054391	A	G	74054391	3	3	79	1	0	0	0	0	1	0	0	0	11841	72	3	4	599	4	PGM2L1	11	74054391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4744	74054391	60952125	12453	22770											
CHRDL2	25884	broad.mit.edu	37	chr11	74417568	74417568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacactgtcctcttcatcCgattgctcacttgcctcatc	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000263671.5_Silent_p.S182S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	182					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(544-546)tcG>tcA		chordin-like 2							171	132	145					11																	74417568		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74417568C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.546G>A	11.37:g.74417568C>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	p.S182S	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			6	1042	-	Hepatocellular(1;0.098)		182					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.546G>A																																																																																					0.602	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			58	326	0	0	0	1	0	58	326					T	74417568	C	T	74417568	2	4	79	1	0	0	0	0	0	0	0	1	3383	639	23	1		1	CHRDL2	11	74417568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363177	74417568	60588948	12454	22771											
CHRDL2	25884	broad.mit.edu	37	chr11	74424519	74424519	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtaacaactcacatgGgcgccctgaaggggacacaa	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000263671.5_Silent_p.A67A|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(199-201)gcC>gcA		chordin-like 2							91	83	86					11																	74424519		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74424519G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.201C>A	11.37:g.74424519G>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	p.A67A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			3	697	-	Hepatocellular(1;0.098)		67			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.201C>A																																																																																					0.577	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			47	194	1	0	6.68952e-21	1	7.51162e-21	47	194					T	74424519	G	T	74424519	2	4	79	1	0	0	0	0	0	0	0	1	3383	1219	43	3		3	CHRDL2	11	74424519	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6951	74424519	60581997	12455	22772											
RNF169	254225	broad.mit.edu	37	chr11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtagtgacacagcccaGgaaagagcgaagagcagagt	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	298					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(892-894)caG>caT		ring finger protein 169							90	96	94					11																	74545772		2031	4204	6235	SO:0001583	missense	254225						zinc ion binding	g.chr11:74545772G>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.894G>T	11.37:g.74545772G>T	ENSP00000299563:p.Gln298His						p.Q298H	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			5	907	+			298					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.894G>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636237	0.67130	.	.	ENSG00000166439	ENST00000299563	T	0.50001	0.76	5.86	-0.421	0.12332	.	0.363893	0.35040	N	0.003491	T	0.58736	0.2143	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.56498	-0.7969	10	0.66056	D	0.02	-2.5919	5.2435	0.15485	0.454:0.0:0.4111:0.1349	.	298	Q8NCN4	RN169_HUMAN	H	298	ENSP00000299563:Q298H	ENSP00000299563:Q298H	Q	+	3	2	RNF169	74223420	0.994000	0.37717	0.989000	0.46669	0.965000	0.64279	0.144000	0.16135	-0.030000	0.13804	-0.145000	0.13849	CAG		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		14	174	1	0	2.32078e-09	1	2.442e-09	14	174					T	74545772	G	T	74545772	3	4	79	1	0	0	0	0	1	0	0	0	13510	991	35	3	912	3	RNF169	11	74545772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121253	74545772	60460744	12456	22773											
XRRA1	143570	broad.mit.edu	37	chr11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagggtggggccagcGtctggttcctggccttcagt	17	10	2	0	rs199618264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21381	0.0		0.0	False		,,,				2504	0.0					ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1093-1095)aCg>aTg		X-ray radiation resistance associated 1							64	66	65					11																	74570255		1902	4115	6017	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74570255G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1094C>T	11.37:g.74570255G>A	ENSP00000339918:p.Thr365Met					XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	p.T365M	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			12	1425	-			365						Missense_Mutation	SNP	ENST00000340360.6	37	c.1094C>T	CCDS44680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.362635	0.82353	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.53423	0.62	6.07	4.06	0.47325	.	.	.	.	.	T	0.55210	0.1906	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.55315	-0.8160	9	0.48119	T	0.1	-10.3559	9.074	0.36511	0.0:0.161:0.6719:0.167	.	365	Q6P2D8	XRRA1_HUMAN	M	365;351	ENSP00000339918:T365M	ENSP00000339918:T365M	T	-	2	0	XRRA1	74247903	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	1.994000	0.40757	1.529000	0.49120	0.655000	0.94253	ACG		0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		21	61	0	0	0	1	0	21	61					A	74570255	G	A	74570255	3	1	79	1	0	0	0	0	1	0	0	0	17515	1145	40	1	1316	1	XRRA1	11	74570255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24483	74570255	60436261	12457	22774											
XRRA1	143570	broad.mit.edu	37	chr11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtataatccagttgctcaTctgagtcctcaagcatcctt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(925-927)gAt>gTt		X-ray radiation resistance associated 1							124	122	122					11																	74617337		1955	4142	6097	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74617337T>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.926A>T	11.37:g.74617337T>A	ENSP00000339918:p.Asp309Val					XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	p.D309V	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			10	1257	-			309						Missense_Mutation	SNP	ENST00000340360.6	37	c.926A>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105787	0.77096	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51817	0.69;1.45;0.71	5.56	5.56	0.83823	.	0.671525	0.14183	N	0.335896	T	0.47820	0.1466	L	0.53249	1.67	0.31762	N	0.633189	P;P;P;P	0.50617	0.8;0.514;0.852;0.937	B;B;B;P	0.44394	0.143;0.284;0.354;0.448	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.0607	12.1158	0.53863	0.0:0.0:0.0:1.0	.	309;76;309;309	Q6P2D8;E9PL06;Q6P2D8-2;Q6P2D8-4	XRRA1_HUMAN;.;.;.	V	309;76;309;309;309	ENSP00000339918:D309V;ENSP00000319303:D76V;ENSP00000435838:D309V	ENSP00000319303:D76V	D	-	2	0	XRRA1	74294985	0.093000	0.21703	0.090000	0.20809	0.234000	0.25298	3.565000	0.53798	2.125000	0.65367	0.533000	0.62120	GAT		0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		45	218	0	0	0	1	0	45	218					A	74617337	T	A	74617337	3	1	79	1	0	0	0	0	1	0	0	0	17515	1435	50	5	1492	5	XRRA1	11	74617337	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47082	74617337	60389179	12458	22775											
SLCO2B1	11309	broad.mit.edu	37	chr11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccctgagctgtgggcgtcGagctgtctgtcgctactaca	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	636					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TGTGGGCGTCGAGCTGTCTGT	0.607																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1906-1908)cGa>cAa		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						171	140	150					11																	74914430		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74914430G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1907G>A	11.37:g.74914430G>A	ENSP00000289575:p.Arg636Gln					SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q	p.R636Q	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			13	2302	+			636					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1907G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364276	0.41902	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.24	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);	0.526977	0.19505	N	0.112643	T	0.18467	0.0443	N	0.11154	0.105	0.09310	N	0.999998	B;B;B	0.23249	0.082;0.066;0.046	B;B;B	0.15484	0.013;0.011;0.013	T	0.23726	-1.0180	10	0.13108	T	0.6	.	7.8034	0.29187	0.3524:0.0:0.6476:0.0	.	492;409;636	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Q	636;409;520;492;409;614	ENSP00000289575:R636Q;ENSP00000341286:R409Q;ENSP00000434112:R520Q;ENSP00000436324:R492Q;ENSP00000389653:R409Q;ENSP00000388912:R614Q	ENSP00000289575:R636Q	R	+	2	0	SLCO2B1	74592078	0.026000	0.19158	0.279000	0.24732	0.897000	0.52465	0.461000	0.21940	0.216000	0.20781	0.650000	0.86243	CGA		0.607	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		119	558	0	0	0	1	0	119	558					A	74914430	G	A	74914430	3	1	79	1	0	0	0	0	1	0	0	0	14777	1058	37	1	1957	1	SLCO2B1	11	74914430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297093	74914430	60092086	12459	22776											
ARRB1	408	broad.mit.edu	37	chr11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccacaaacaggtccttgCgaaaggtcaggcccaggaca	12	12	1	0	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H|ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2. {ECO:0000250}.|Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|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 protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(226-228)cGc>cAc		arrestin, beta 1		C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	75	66	69		227,227	4.5	1	11	dbSNP_134	69	1,8585	1.2+/-3.3	0,1,4292	yes	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	76/419,76/411	74994458	1,12985	2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74994458C>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.227G>A	11.37:g.74994458C>T	ENSP00000409581:p.Arg76His					ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			5	324	-			76			Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.227G>A	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632928	0.67015	0.0	1.16E-4	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.89968	3.075	0.80722	D	1	P;P	0.51791	0.75;0.948	B;B	0.41571	0.086;0.36	T	0.61182	-0.7114	10	0.62326	D	0.03	-6.2033	14.647	0.68767	0.0:1.0:0.0:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	H	76;76;76;71	ENSP00000409581:R76H;ENSP00000377141:R76H;ENSP00000353124:R76H;ENSP00000433171:R71H	ENSP00000353124:R76H	R	-	2	0	ARRB1	74672106	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.320000	0.79064	2.299000	0.77371	0.561000	0.74099	CGC		0.642	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		48	243	0	0	0	1	0	48	243					T	74994458	C	T	74994458	3	4	79	1	0	0	0	0	1	0	0	0	981	768	27	1	1077	1	ARRB1	11	74994458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80028	74994458	60012058	12460	22777											
GDPD5	81544	broad.mit.edu	37	chr11	75153439	75153439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccggagtgcagcacgGcctccagagtcacgttgata	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	ENST00000336898.3	-	12	1973	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000526177.1_Missense_Mutation_p.A241D|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	379	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGCAGCACGGCCTCCAGAGT	0.672																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(721-723)gCc>gAc		glycerophosphodiester phosphodiesterase domain containing 5							23	22	22					11																	75153439		2188	4287	6475	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75153439G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1136C>A	11.37:g.75153439G>T	ENSP00000337972:p.Ala379Asp					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000336898.3_Missense_Mutation_p.A379D	p.A241D			Q8WTR4	GDPD5_HUMAN			8	2600	-			379			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.722C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.278002	0.59758	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.37	5.37	0.77165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.285067	0.39083	N	0.001475	T	0.22475	0.0542	L	0.36672	1.1	0.80722	D	1	D;P	0.55800	0.973;0.549	P;B	0.54100	0.742;0.194	T	0.00326	-1.1815	10	0.66056	D	0.02	-21.6643	16.6226	0.84934	0.0:0.0:1.0:0.0	.	260;379	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	D	241;260;379;379;134;260	ENSP00000434050:A241D;ENSP00000437049:A260D;ENSP00000433214:A379D;ENSP00000337972:A379D;ENSP00000435196:A134D;ENSP00000365459:A260D	ENSP00000337972:A379D	A	-	2	0	GDPD5	74831087	0.695000	0.27747	0.953000	0.39169	0.864000	0.49448	3.667000	0.54547	2.522000	0.85027	0.450000	0.29827	GCC		0.672	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		12	40	1	0	0.00136819	1	0.0013818	12	40					T	75153439	G	T	75153439	3	4	79	1	0	0	0	0	1	0	0	0	6356	1203	42	3	705	3	GDPD5	11	75153439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158981	75153439	59853077	12461	22778											
GDPD5	81544	broad.mit.edu	37	chr11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccttggccagctccaggaGctctgccaggctgcagatgg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000336898.3	-	12	1870	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000526177.1_Missense_Mutation_p.L207I|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	345	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(619-621)Ctc>Atc		glycerophosphodiester phosphodiesterase domain containing 5							47	44	45					11																	75153542		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75153542G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1033C>A	11.37:g.75153542G>T	ENSP00000337972:p.Leu345Ile					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000336898.3_Missense_Mutation_p.L345I	p.L207I			Q8WTR4	GDPD5_HUMAN			8	2497	-			345					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.619C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.912522	0.92178	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.34	5.34	0.76211	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.304858	0.31554	N	0.007460	T	0.24314	0.0589	L	0.41961	1.31	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.54664	0.758;0.755	T	0.00247	-1.1881	10	0.51188	T	0.08	-34.0308	16.549	0.84458	0.0:0.0:1.0:0.0	.	226;345	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	I	207;226;345;345;100;226	ENSP00000434050:L207I;ENSP00000437049:L226I;ENSP00000433214:L345I;ENSP00000337972:L345I;ENSP00000435196:L100I;ENSP00000365459:L226I	ENSP00000337972:L345I	L	-	1	0	GDPD5	74831190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	2.498000	0.84270	0.450000	0.29827	CTC		0.632	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		32	165	1	0	2.47511e-08	1	2.58473e-08	32	165					T	75153542	G	T	75153542	3	4	79	1	0	0	0	0	1	0	0	0	6356	971	34	3	808	3	GDPD5	11	75153542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	75153542	59852974	12462	22779											
MAP6	4135	broad.mit.edu	37	chr11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaaatttactctttcGcctcagccagtttattgttc	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000304771.3	-	3	2060	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000434603.2_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	437					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTACTCTTTCGCCTCAGCCAG	0.468																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000434603.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1309-1311)gCg>gTg		microtubule-associated protein 6							154	127	136					11																	75316859		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316859G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1310C>T	11.37:g.75316859G>A	ENSP00000307093:p.Ala437Val					MAP6_ENST00000526740.1_Missense_Mutation_p.A108V|MAP6_ENST00000304771.3_Missense_Mutation_p.A437V	p.A437V	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN			3	1374	-	Ovarian(111;0.11)		437					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1310C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265520	0.95399	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.72051	-0.62;-0.02	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000227	D	0.83658	0.5302	M	0.70275	2.135	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.83901	0.0290	10	0.52906	T	0.07	-18.7907	18.0851	0.89455	0.0:0.0:1.0:0.0	.	437	Q96JE9	MAP6_HUMAN	V	437;108;108;437	ENSP00000307093:A437V;ENSP00000415108:A437V	ENSP00000307093:A437V	A	-	2	0	MAP6	74994507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GCG		0.468	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		122	550	0	0	0	1	0	122	550					A	75316859	G	A	75316859	3	1	79	1	0	0	0	0	1	0	0	0	9305	1087	38	1	1143	1	MAP6	11	75316859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163317	75316859	59689657	12463	22780											
MOGAT2	80168	broad.mit.edu	37	chr11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgttatatcaaagAgctgtgcaacctcttcgagg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000198801.5	+	6	1002	c.932A>T	c.(931-933)gAg>gTg	p.E311V	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E229V	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	311					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(685-687)gAg>gTg		monoacylglycerol O-acyltransferase 2							121	106	111					11																	75442258		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442258A>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.932A>T	11.37:g.75442258A>T	ENSP00000198801:p.Glu311Val					MOGAT2_ENST00000198801.5_Missense_Mutation_p.E311V	p.E229V			Q3SYC2	MOGT2_HUMAN			5	1459	+	Ovarian(111;0.103)		311					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.686A>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064722	0.76187	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	H	0.95574	3.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.64877	0.93	T	0.61178	-0.7115	10	0.44086	T	0.13	-15.3991	15.6572	0.77150	1.0:0.0:0.0:0.0	.	311	Q3SYC2	MOGT2_HUMAN	V	311;229	ENSP00000198801:E311V;ENSP00000436283:E229V	ENSP00000198801:E311V	E	+	2	0	MOGAT2	75119906	0.993000	0.37304	0.402000	0.26371	0.978000	0.69477	3.826000	0.55738	2.371000	0.80710	0.533000	0.62120	GAG		0.552	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		79	336	0	0	0	1	0	79	336					T	75442258	A	T	75442258	3	4	79	1	0	0	0	0	1	0	0	0	9736	304	11	5	954	5	MOGAT2	11	75442258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125399	75442258	59564258	12464	22781											
UVRAG	7405	broad.mit.edu	37	chr11	75599929	75599929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgatggatactatggTgctccatttgaacataaggt	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	163					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACTATGGTGCTCCATTTG	0.353																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(487-489)ggT>ggC		UV radiation resistance associated							96	91	92					11																	75599929		2200	4293	6493	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75599929T>C	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.489T>C	11.37:g.75599929T>C						UVRAG_ENST00000528420.1_Silent_p.G62G	p.G163G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			5	730	+			163					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.489T>C	CCDS8241.1																																																																																				0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		32	127	0	0	0	1	0	32	127					C	75599929	T	C	75599929	2	2	79	1	0	0	0	0	0	0	0	1	17162	1683	59	4		4	UVRAG	11	75599929	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157671	75599929	59406587	12465	22782											
UVRAG	7405	broad.mit.edu	37	chr11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcagttactctctgAgctttcctacatttacccta	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000356136.3	+	10	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	324					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTACTCTCTGAGCTTTCCTAC	0.303																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(970-972)gAg>gGg		UV radiation resistance associated							115	112	113					11																	75718637		2199	4293	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75718637A>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.971A>G	11.37:g.75718637A>G	ENSP00000348455:p.Glu324Gly					UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR	p.E324G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			10	1212	+			324					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.971A>G	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794272	0.90453	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.37411	1.2;1.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58951	-0.7545	10	0.72032	D	0.01	-22.5946	15.1937	0.73067	1.0:0.0:0.0:0.0	.	324	Q9P2Y5	UVRAG_HUMAN	G	324;223	ENSP00000348455:E324G;ENSP00000436039:E223G	ENSP00000348455:E324G	E	+	2	0	UVRAG	75396285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.367000	0.80283	0.528000	0.53228	GAG		0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		55	304	0	0	0	1	0	55	304					G	75718637	A	G	75718637	3	3	79	1	0	0	0	0	1	0	0	0	17162	304	11	4	1009	4	UVRAG	11	75718637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118708	75718637	59287879	12466	22783											
UVRAG	7405	broad.mit.edu	37	chr11	75851896	75851896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctctgagaatgagagActtcagtacaaaacccctcc	8	13	2	3	rs143874379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	ENST00000356136.3	+	15	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000538870.1_Silent_p.R69R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	513					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAATGAGAGACTTCAGTACA	0.527																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1537-1539)agA>agG		UV radiation resistance associated							95	91	92					11																	75851896		2200	4292	6492	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851896A>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1539A>G	11.37:g.75851896A>G						UVRAG_ENST00000538870.1_Silent_p.R69R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000533454.1_Silent_p.R141R	p.R513R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	1780	+			513					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.1539A>G	CCDS8241.1																																																																																				0.527	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		33	389	0	0	0	1	0	33	389					G	75851896	A	G	75851896	2	3	79	1	0	0	0	0	0	0	0	1	17162	272	10	4		4	UVRAG	11	75851896	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	133259	75851896	59154620	12467	22784											
WNT11	7481	broad.mit.edu	37	chr11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggccttcatgacctcgCgggcggcgtgcaccaccgtg	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	74					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(220-222)cGc>cAc		wingless-type MMTV integration site family, member 11							65	65	65					11																	75907625		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907625C>T	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.221G>A	11.37:g.75907625C>T	ENSP00000325526:p.Arg74His						p.R74H	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	345	-			74					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.221G>A	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118971	0.37436	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76578	-1.03	5.06	5.06	0.68205	.	0.056202	0.64402	D	0.000001	T	0.70996	0.3288	L	0.45698	1.435	0.58432	D	0.999998	B	0.18863	0.031	B	0.18561	0.022	T	0.70048	-0.4979	10	0.72032	D	0.01	.	10.986	0.47523	0.0:0.9146:0.0:0.0854	.	74	O96014	WNT11_HUMAN	H	74	ENSP00000325526:R74H	ENSP00000325526:R74H	R	-	2	0	WNT11	75585273	0.999000	0.42202	0.883000	0.34634	0.010000	0.07245	4.081000	0.57627	2.334000	0.79466	0.655000	0.94253	CGC		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		105	447	0	0	0	1	0	105	447					T	75907625	C	T	75907625	3	4	79	1	0	0	0	0	1	0	0	0	17438	768	27	1	859	1	WNT11	11	75907625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55729	75907625	59098891	12468	22785											
PRKRIR	5612	broad.mit.edu	37	chr11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgatggaaaaaagaacaaActtcctcaattgttcctaat	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	387					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1159-1161)gTt>gGt		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							51	49	50					11																	76063034		2198	4288	6486	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063034A>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1160T>G	11.37:g.76063034A>C	ENSP00000260045:p.Val387Gly						p.V387G	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1265	-			387					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1160T>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685370	0.68157	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23754	1.89;1.89	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.275476	0.41938	D	0.000792	T	0.30262	0.0759	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.45829	0.494	T	0.08764	-1.0706	10	0.59425	D	0.04	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	387	O43422	P52K_HUMAN	G	212;387	ENSP00000436249:V212G;ENSP00000260045:V387G	ENSP00000260045:V387G	V	-	2	0	PRKRIR	75740682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.649000	0.74364	1.956000	0.56807	0.524000	0.50904	GTT		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		84	325	0	0	0	1	0	84	325					C	76063034	A	C	76063034	3	2	79	1	0	0	0	0	1	0	0	0	12573	43	2	4	1129	4	PRKRIR	11	76063034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155409	76063034	58943482	12469	22786											
PRKRIR	5612	broad.mit.edu	37	chr11	76063238	76063238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaatactccatatttaatCcccacttctcagttatcata	2	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063238C>T	ENST00000260045.3	-	5	1061	c.956G>A	c.(955-957)gGa>gAa	p.G319E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	319					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATATTTAATCCCCACTTCTC	0.383																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(955-957)gGa>gAa		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							41	43	42					11																	76063238		2138	4178	6316	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063238C>T	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.956G>A	11.37:g.76063238C>T	ENSP00000260045:p.Gly319Glu						p.G319E	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1061	-			319					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.956G>A	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662339	0.67700	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.27256	1.68;1.68	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.56335	-0.7996	10	0.51188	T	0.08	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	319	O43422	P52K_HUMAN	E	144;319	ENSP00000436249:G144E;ENSP00000260045:G319E	ENSP00000260045:G319E	G	-	2	0	PRKRIR	75740886	1.000000	0.71417	0.945000	0.38365	0.604000	0.37047	5.409000	0.66374	2.416000	0.81992	0.644000	0.83932	GGA		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		21	580	0	0	0	1	0	21	580					T	76063238	C	T	76063238	3	4	79	1	0	0	0	0	1	0	0	0	12573	855	30	2	1333	2	PRKRIR	11	76063238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204	76063238	58943278	12470	22787											
C11orf30	56946	broad.mit.edu	37	chr11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgcctttactgtaacaGctaatgctgttgctaatgca	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000529032.1	+	4	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	116	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TACTGTAACAGCTAATGCTGT	0.473																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(346-348)Gct>Act		chromosome 11 open reading frame 30							107	104	105					11																	76169327		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76169327G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.346G>A	11.37:g.76169327G>A	ENSP00000432327:p.Ala116Thr					C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T	p.A116T			Q7Z589	EMSY_HUMAN			4	346	+			116			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.346G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728817	0.89390	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.993;0.993;0.993;0.999;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.91635	0.984;0.984;0.984;0.997;0.999;0.998;0.99;0.998;0.971	T	0.78753	-0.2081	9	0.56958	D	0.05	-9.4108	20.1133	0.97917	0.0:0.0:1.0:0.0	.	130;130;130;116;116;116;116;116;116	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	T	116;116;116;116;130;130;116;130;116	.	ENSP00000334130:A116T	A	+	1	0	C11orf30	75846975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GCT		0.473	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		71	334	0	0	0	1	0	71	334					A	76169327	G	A	76169327	3	1	79	1	0	0	0	0	1	0	0	0	1641	971	34	2	360	2	C11orf30	11	76169327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106089	76169327	58837189	12471	22788											
C11orf30	56946	broad.mit.edu	37	chr11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatgtagagagtcctgttCgagtccatccactgttggct	11	9	0	1	rs150867470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000529032.1	+	19	3635	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1212					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAGTCCTGTTCGAGTCCATCC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19348	0.0		0.0	False		,,,				2504	0.0					ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3634-3636)tCg>tTg		chromosome 11 open reading frame 30		C	LEU/SER	6,4394	11.4+/-27.6	0,6,2194	85	87	86		3635	6.1	1	11	dbSNP_134	86	0,8584		0,0,4292	yes	missense	C11orf30	NM_020193.3	145	0,6,6486	TT,TC,CC		0.0,0.1364,0.0462	possibly-damaging	1212/1323	76257202	6,12978	2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257202C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3635C>T	11.37:g.76257202C>T	ENSP00000432327:p.Ser1212Leu					C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L	p.S1212L			Q7Z589	EMSY_HUMAN			19	3635	+			1212					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3635C>T	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.219679|2.219679	0.39201|0.39201	0.001364|0.001364	0.0|0.0	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.151517	.|0.45867	.|D	.|0.000338	.|T	.|0.51329	.|0.1668	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;B;B;P;B;P	.|0.63880	.|0.993;0.273;0.273;0.828;0.273;0.828	.|P;B;B;B;B;B	.|0.56163	.|0.793;0.041;0.041;0.097;0.041;0.097	.|T	.|0.56153	.|-0.8026	.|9	.|0.72032	.|D	.|0.01	-7.9955|-7.9955	15.3534|15.3534	0.74409|0.74409	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|1121;1213;1227;1213;1114;1212	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	X|L	71|1114;1212;894;1227;1121;1213;1213;1212	.|.	.|ENSP00000334130:S1212L	R|S	+|+	1|2	2|0	C11orf30|C11orf30	75934850|75934850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.003000|4.003000	0.57061|0.57061	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.522	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		81	336	0	0	0	1	0	81	336					T	76257202	C	T	76257202	3	4	79	1	0	0	0	0	1	0	0	0	1641	893	31	1	3709	1	C11orf30	11	76257202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87875	76257202	58749314	12472	22789											
B3GNT6	192134	broad.mit.edu	37	chr11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcagccacccggccGccacctgttctccggccagc	12	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692																																						ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(727-729)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							11	15	14					11																	76751323		2165	4252	6417	SO:0001583	missense	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751323G>A	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.728G>A	11.37:g.76751323G>A	ENSP00000435352:p.Arg243His					B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H	p.R243H			Q6ZMB0	B3GN6_HUMAN			2	866	+			243					Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	c.728G>A	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	g	2.734	-0.263716	0.05754	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.40756	1.02;1.02;1.02	2.71	0.741	0.18336	.	1.469590	0.04406	N	0.365184	T	0.30665	0.0772	L	0.31120	0.905	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.18493	-1.0335	10	0.28530	T	0.3	.	5.4637	0.16632	0.3984:0.0:0.6016:0.0	.	243	Q6ZMB0	B3GN6_HUMAN	H	243;243;154	ENSP00000435352:R243H;ENSP00000346256:R243H;ENSP00000403463:R154H	ENSP00000346256:R243H	R	+	2	0	B3GNT6	76428971	0.000000	0.05858	0.203000	0.23512	0.015000	0.08874	0.311000	0.19380	0.190000	0.20209	-0.355000	0.07637	CGC		0.692	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		20	67	0	0	0	1	0	20	67					A	76751323	G	A	76751323	3	1	79	1	0	0	0	0	1	0	0	0	1262	1087	38	1	730	1	B3GNT6	11	76751323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	494121	76751323	58255193	12473	22790											
CAPN5	726	broad.mit.edu	37	chr11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcttccccgccactgacGactcactctactataagggc	6	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000278559.3	+	2	298	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	37	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(109-111)Gac>Aac		calpain 5							28	32	31					11																	76796041		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76796041G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.109G>A	11.37:g.76796041G>A	ENSP00000278559:p.Asp37Asn					CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N	p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			2	298	+			37			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.109G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812369	0.50527	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.173178	0.48767	D	0.000164	T	0.23766	0.0575	L	0.52126	1.63	0.58432	D	0.999998	D;B;B;D	0.54601	0.967;0.283;0.269;0.967	P;B;B;P	0.46940	0.532;0.03;0.067;0.454	T	0.00981	-1.1492	10	0.54805	T	0.06	.	16.1934	0.82006	0.0:0.0:1.0:0.0	.	75;37;77;37	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	37;37;77;37;37;37	ENSP00000278559:D37N;ENSP00000435894:D37N;ENSP00000432332:D37N;ENSP00000409996:D37N	ENSP00000278559:D37N	D	+	1	0	CAPN5	76473689	1.000000	0.71417	0.962000	0.40283	0.023000	0.10783	3.769000	0.55303	2.415000	0.81967	0.655000	0.94253	GAC		0.657	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		55	217	0	0	0	1	0	55	217					A	76796041	G	A	76796041	3	1	79	1	0	0	0	0	1	0	0	0	2636	1058	37	1	111	1	CAPN5	11	76796041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44718	76796041	58210475	12474	22791											
OMP	4975	broad.mit.edu	37	chr11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgctgcagccagcggagtCtgtgtaccgcctcaacttca	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000529803.1	+	1	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	51					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCGGAGTCTGTGTACCGC	0.647																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(151-153)tCt>tAt		olfactory marker protein							41	53	49					11																	76814037		2156	4259	6415	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814037C>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.152C>A	11.37:g.76814037C>A	ENSP00000436376:p.Ser51Tyr					CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron	p.S51Y	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	152	+			51					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.152C>A	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858095	0.00558	.	.	ENSG00000254550	ENST00000529803	T	0.31510	1.49	5.12	0.87	0.19102	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.25256	N	0.98963	B	0.10296	0.003	B	0.13407	0.009	T	0.35176	-0.9799	9	0.02654	T	1	.	3.0411	0.06139	0.3394:0.3208:0.0:0.3398	.	51	P47874	OMP_HUMAN	Y	51	ENSP00000436376:S51Y	ENSP00000436376:S51Y	S	+	2	0	OMP	76491685	0.005000	0.15991	0.993000	0.49108	0.089000	0.18198	0.288000	0.18939	0.330000	0.23485	0.462000	0.41574	TCT		0.647	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		63	210	1	0	2.32099e-22	1	2.62577e-22	63	210					A	76814037	C	A	76814037	3	1	79	1	0	0	0	0	1	0	0	0	10909	913	32	3	154	3	OMP	11	76814037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17996	76814037	58192479	12475	22792											
CAPN5	726	broad.mit.edu	37	chr11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttaaaggtgcacagccGgggcggcctcatcagtgcct	13	12	2	0	rs200993761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000278559.3	+	5	860	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	224	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19577	0.0		0.001	False		,,,				2504	0.0					ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(670-672)cGg>cAg		calpain 5		G	GLN/ARG	0,4400		0,0,2200	173	167	169		671	4.7	1	11		169	1,8583	1.2+/-3.3	0,1,4291	no	missense	CAPN5	NM_004055.4	43	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	224/641	76825452	1,12983	2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76825452G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.671G>A	11.37:g.76825452G>A	ENSP00000278559:p.Arg224Gln		OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q	p.R224Q	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			5	860	+			224			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.671G>A	CCDS8248.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.115359	0.94339	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.120719	0.56097	D	0.000029	D	0.93831	0.8027	M	0.71206	2.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.91635	0.999;0.701;0.701;0.999	D	0.94435	0.7653	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	262;264;264;224	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	Q	224;264;224;264;264	ENSP00000278559:R224Q;ENSP00000432332:R224Q;ENSP00000409996:R264Q	ENSP00000278559:R224Q	R	+	2	0	CAPN5	76503100	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.860000	0.86993	2.438000	0.82558	0.655000	0.94253	CGG		0.587	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		202	997	0	0	0	1	0	202	997					A	76825452	G	A	76825452	3	1	79	1	0	0	0	0	1	0	0	0	2636	1116	39	1	685	1	CAPN5	11	76825452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11415	76825452	58181064	12476	22793											
MYO7A	4647	broad.mit.edu	37	chr11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgccaacatccgctccGccatgaaggtgctcatgttc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	304	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(910-912)Gcc>Acc		myosin VIIA							51	56	55					11																	76869383		2150	4250	6400	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76869383G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.910G>A	11.37:g.76869383G>A	ENSP00000386331:p.Ala304Thr					MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T	p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			9	1182	+			304			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.910G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006606	0.93287	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.994;1.0	D	0.94018	0.7290	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304;304;304	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	304;304;304;293;303;303;303	ENSP00000386331:A304T;ENSP00000386689:A304T;ENSP00000392185:A304T;ENSP00000386635:A293T	ENSP00000340325:A303T	A	+	1	0	MYO7A	76547031	1.000000	0.71417	0.964000	0.40570	0.940000	0.58332	7.967000	0.87967	2.711000	0.92665	0.655000	0.94253	GCC		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		40	137	0	0	0	1	0	40	137					A	76869383	G	A	76869383	3	1	79	1	0	0	0	0	1	0	0	0	10123	1087	38	1	940	1	MYO7A	11	76869383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43931	76869383	58137133	12477	22794											
MYO7A	4647	broad.mit.edu	37	chr11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaacagcacgcacatttGaaaacctggatgcctgtgag	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602																																						ENST00000409709.3																			1	Substitution - Missense(1)	p.E339Q(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1015-1017)Gaa>Aaa		myosin VIIA							84	84	84					11																	76870504		1975	4154	6129	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76870504G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1015G>A	11.37:g.76870504G>A	ENSP00000386331:p.Glu339Lys					MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K	p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			10	1287	+			339			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1015G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269780	0.40095	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.218301	0.38720	N	0.001598	T	0.63307	0.2500	L	0.31294	0.92	0.44323	D	0.997201	B;B;B	0.23990	0.095;0.024;0.087	B;B;B	0.27076	0.063;0.025;0.076	T	0.59563	-0.7431	10	0.38643	T	0.18	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	339;339;339	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	339;339;339;328;338;338;338	ENSP00000386331:E339K;ENSP00000386689:E339K;ENSP00000392185:E339K;ENSP00000386635:E328K	ENSP00000340325:E338K	E	+	1	0	MYO7A	76548152	1.000000	0.71417	0.993000	0.49108	0.343000	0.28985	7.571000	0.82399	2.392000	0.81423	0.591000	0.81541	GAA		0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		35	271	0	0	0	1	0	35	271					A	76870504	G	A	76870504	3	1	79	1	0	0	0	0	1	0	0	0	10123	1291	45	2	1049	2	MYO7A	11	76870504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1121	76870504	58136012	12478	22795											
MYO7A	4647	broad.mit.edu	37	chr11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctcagtatctgtggCgcctcgaggctgagaaaatg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	866					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2596-2598)Cgc>Tgc		myosin VIIA							35	39	38					11																	76891429		2037	4176	6213	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76891429C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2596C>T	11.37:g.76891429C>T	ENSP00000386331:p.Arg866Cys					MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C	p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			22	2868	+			866					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2596C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932269	0.73442	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89050	-2.42;-2.46;-2.42;-2.43;-2.25	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.61800	0.871;0.871;0.894;0.871	D	0.89193	0.3552	10	0.39692	T	0.17	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	866;855;866;866	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	C	866;866;866;855;77;865;865;742;865;47	ENSP00000386331:R866C;ENSP00000386689:R866C;ENSP00000392185:R866C;ENSP00000386635:R855C;ENSP00000417017:R47C	ENSP00000345075:R742C	R	+	1	0	MYO7A	76569077	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	3.622000	0.54217	2.476000	0.83614	0.448000	0.29417	CGC		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	100	0	0	0	1	0	5	100					T	76891429	C	T	76891429	3	4	79	1	0	0	0	0	1	0	0	0	10123	768	27	1	2678	1	MYO7A	11	76891429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20925	76891429	58115087	12479	22796											
MYO7A	4647	broad.mit.edu	37	chr11	76909559	76909559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagtctccccaagaaCgacgtcatcgtggccgtcaa	10	16	3	1	rs56174006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76909559C>T	ENST00000409709.3	+	34	4733	c.4461C>T	c.(4459-4461)aaC>aaT	p.N1487N	MYO7A_ENST00000458637.2_Silent_p.N1487N|MYO7A_ENST00000409619.2_Silent_p.N1476N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1487	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCCAAGAACGACGTCATCG	0.607													c|||	11	0.00219649	0.0038	0.0043	5008	,	,		20346	0.0		0.002	False		,,,				2504	0.001					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4459-4461)aaC>aaT		myosin VIIA		T	,	29,4071		0,29,2021	69	75	73	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4461,4461	-10.1	0	11	dbSNP_129	73	51,8311		0,51,4130	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,80,6151	TT,TC,CC		0.6099,0.7073,0.642	,	1487/2216,1487/2176	76909559	80,12382	2050	4181	6231	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76909559C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4461C>T	11.37:g.76909559C>T						MYO7A_ENST00000409619.2_Silent_p.N1476N|MYO7A_ENST00000458637.2_Silent_p.N1487N	p.N1487N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			34	4733	+			1487			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.4461C>T	CCDS53683.1																																																																																				0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		42	191	0	0	0	1	0	42	191					T	76909559	C	T	76909559	2	4	79	1	0	0	0	0	0	0	0	1	10123	535	19	1		1	MYO7A	11	76909559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18130	76909559	58096957	12480	22797											
MYO7A	4647	broad.mit.edu	37	chr11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagctttgccaagGgagacctcatcatcctggac	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1630	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4888-4890)Gga>Aga		myosin VIIA							62	68	66					11																	76912528		2171	4246	6417	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912528G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4888G>A	11.37:g.76912528G>A	ENSP00000386331:p.Gly1630Arg					MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R	p.G1630R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5160	+			1630			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4888G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972120	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87699	0.2559	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1581;1592;1630	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	1630;1592;1581;803;1629;1599;1506;772;245	ENSP00000386331:G1630R;ENSP00000392185:G1592R;ENSP00000386635:G1581R;ENSP00000417017:G772R	ENSP00000345075:G1506R	G	+	1	0	MYO7A	76590176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGA		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		32	125	0	0	0	1	0	32	125					A	76912528	G	A	76912528	3	1	79	1	0	0	0	0	1	0	0	0	10123	1233	43	2	5060	2	MYO7A	11	76912528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2969	76912528	58093988	12481	22798											
MYO7A	4647	broad.mit.edu	37	chr11	76912632	76912632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggggacttccccacCgacagtgtgtacgtcatgcc	12	14	1	0	rs181573957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000458637.2_Silent_p.T1626T|MYO7A_ENST00000409619.2_Silent_p.T1615T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1664	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612													C|||	13	0.00259585	0.0098	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4990-4992)acC>acT		myosin VIIA		C	,	42,4240		0,42,2099	71	77	75		4992,4878	-9.2	0.1	11		75	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,42,6333	TT,TC,CC		0.0,0.9809,0.3294	,	1664/2216,1626/2176	76912632	42,12708	2141	4234	6375	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912632C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4992C>T	11.37:g.76912632C>T						MYO7A_ENST00000409619.2_Silent_p.T1615T|MYO7A_ENST00000458637.2_Silent_p.T1626T	p.T1664T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5264	+			1664			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.4992C>T	CCDS53683.1																																																																																				0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		37	184	0	0	0	1	0	37	184					T	76912632	C	T	76912632	2	4	79	1	0	0	0	0	0	0	0	1	10123	639	23	1		1	MYO7A	11	76912632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104	76912632	58093884	12482	22799											
GDPD4	220032	broad.mit.edu	37	chr11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcagggttctcgcaggcaGattctggctgaacttcccca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000376217.2	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000315938.4_Missense_Mutation_p.S262F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	262	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(784-786)tCt>tTt		glycerophosphodiester phosphodiesterase domain containing 4							176	170	172					11																	76969510		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76969510G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.785C>T	11.37:g.76969510G>A	ENSP00000365390:p.Ser262Phe					GDPD4_ENST00000376217.2_Missense_Mutation_p.S262F	p.S262F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			10	1035	-			262			GDPD.		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.785C>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145636	0.06627	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12465	2.68;2.68	4.73	-0.91	0.10511	.	0.896444	0.09863	N	0.745907	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.17979	0.02	T	0.36456	-0.9747	10	0.40728	T	0.16	-1.7653	4.4757	0.11739	0.1736:0.0:0.3917:0.4347	.	262	Q6W3E5-2	.	F	262	ENSP00000365390:S262F;ENSP00000320815:S262F	ENSP00000320815:S262F	S	-	2	0	GDPD4	76647158	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.308000	0.08156	-0.061000	0.13110	0.561000	0.74099	TCT		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		63	710	0	0	0	1	0	63	710					A	76969510	G	A	76969510	3	1	79	1	0	0	0	0	1	0	0	0	6355	942	33	2	805	2	GDPD4	11	76969510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56878	76969510	58037006	12483	22800											
INTS4	92105	broad.mit.edu	37	chr11	77639550	77639550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaaagagggtgaagaCtgggccaacatgcagagggc	15	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	ENST00000534064.1	-	11	1243	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	403					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGGTGAAGACTGGGCCAACA	0.468																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1207-1209)caG>caT		integrator complex subunit 4							11	10	11					11																	77639550		2193	4259	6452	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77639550C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1209G>T	11.37:g.77639550C>A	ENSP00000434466:p.Gln403His					INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	p.Q403H	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		11	1243	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		403					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1209G>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992402	0.35131	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.42513	0.97;0.97	3.94	1.78	0.24846	Armadillo-like helical (1);Armadillo-type fold (1);	0.274188	0.37669	N	0.001990	T	0.33206	0.0855	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.42959	0.403	T	0.03922	-1.0992	10	0.41790	T	0.15	-7.284	5.4601	0.16612	0.0:0.6191:0.1481:0.2328	.	403	Q96HW7	INT4_HUMAN	H	403;254;403	ENSP00000434466:Q403H;ENSP00000433644:Q403H	ENSP00000346913:Q254H	Q	-	3	2	INTS4	77317198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.863000	0.27913	0.284000	0.22305	0.471000	0.43371	CAG		0.468	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		21	81	1	0	1.10513e-12	1	1.18868e-12	21	81					A	77639550	C	A	77639550	3	1	79	1	0	0	0	0	1	0	0	0	7810	564	20	3	1734	3	INTS4	11	77639550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	670040	77639550	57366966	12484	22801											
INTS4	92105	broad.mit.edu	37	chr11	77705641	77705641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccagagcttacctgaaCcactttcgtgaattcctcat	6	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77705641C>T	ENST00000534064.1	-	1	83	c.49G>A	c.(49-51)Gtt>Att	p.V17I	INTS4_ENST00000527522.1_Missense_Mutation_p.V17I|INTS4_ENST00000529807.1_Missense_Mutation_p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	17					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTACCTGAACCACTTTCGTG	0.577																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(49-51)Gtt>Att		integrator complex subunit 4							95	88	90					11																	77705641		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77705641C>T	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.49G>A	11.37:g.77705641C>T	ENSP00000434466:p.Val17Ile					INTS4_ENST00000529807.1_Missense_Mutation_p.V17I|INTS4_ENST00000527522.1_Missense_Mutation_p.V17I	p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		1	83	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		17					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.49G>A	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124834	0.56613	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.48	5.48	0.80851	.	0.134884	0.48767	D	0.000162	T	0.43456	0.1248	N	0.16743	0.435	0.80722	D	1	B	0.32620	0.378	B	0.32211	0.142	T	0.28202	-1.0051	9	0.16896	T	0.51	-21.5488	19.5509	0.95319	0.0:1.0:0.0:0.0	.	17	Q96HW7	INT4_HUMAN	I	17	.	ENSP00000407787:V17I	V	-	1	0	INTS4	77383289	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.894000	0.63206	2.852000	0.98041	0.643000	0.83706	GTT		0.577	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		11	596	0	0	0	1	0	11	596					T	77705641	C	T	77705641	3	4	79	1	0	0	0	0	1	0	0	0	7810	507	18	2	2934	2	INTS4	11	77705641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66091	77705641	57300875	12485	22802											
USP35	57558	broad.mit.edu	37	chr11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacggacctctctctcGccttccctcctcctgagcgc	6	21	3	1	rs201981807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	599	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTCTCTCTCGCCTTCCCTCC	0.622																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1795-1797)Gcc>Acc		ubiquitin specific peptidase 35							58	63	61					11																	77920696		2039	4189	6228	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920696G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1795G>A	11.37:g.77920696G>A	ENSP00000431876:p.Ala599Thr					USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T	p.A599T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2056	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		599						Missense_Mutation	SNP	ENST00000529308.1	37	c.1795G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625284	0.87560	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.18635	0.0447	L	0.41356	1.27	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01105	-1.1450	10	0.87932	D	0	-28.2008	17.4436	0.87572	0.0:0.0:1.0:0.0	.	599;185	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	167;599;185;330	ENSP00000435468:A167T;ENSP00000431876:A599T;ENSP00000400825:A185T;ENSP00000434942:A330T	ENSP00000400825:A185T	A	+	1	0	USP35	77598344	1.000000	0.71417	0.164000	0.22755	0.950000	0.60333	9.647000	0.98478	2.338000	0.79540	0.461000	0.40582	GCC		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		29	645	0	0	0	1	0	29	645					A	77920696	G	A	77920696	3	1	79	1	0	0	0	0	1	0	0	0	17120	1087	38	1	1829	1	USP35	11	77920696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215055	77920696	57085820	12486	22803											
USP35	57558	broad.mit.edu	37	chr11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcacctccttcttccctaagGacacagcctatgtgctgttt	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	916	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCCTAAGGACACAGCCTA	0.582																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2746-2748)Gac>Tac		ubiquitin specific peptidase 35							115	111	112					11																	77921647		1959	4135	6094	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921647G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2746G>T	11.37:g.77921647G>T	ENSP00000431876:p.Asp916Tyr					USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y	p.D916Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	3007	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		916						Missense_Mutation	SNP	ENST00000529308.1	37	c.2746G>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614634	0.87359	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000007	T	0.55337	0.1914	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.976;1.0	T	0.55418	-0.8144	10	0.49607	T	0.09	-43.9285	18.2591	0.90028	0.0:0.0:1.0:0.0	.	916;502	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	484;916;502;647	ENSP00000435468:D484Y;ENSP00000431876:D916Y;ENSP00000400825:D502Y;ENSP00000434942:D647Y	ENSP00000400825:D502Y	D	+	1	0	USP35	77599295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.411000	0.97342	2.539000	0.85634	0.561000	0.74099	GAC		0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		159	599	1	0	3.57155e-81	1	4.56959e-81	159	599					T	77921647	G	T	77921647	3	4	79	1	0	0	0	0	1	0	0	0	17120	1174	41	3	2780	3	USP35	11	77921647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	951	77921647	57084869	12487	22804											
USP35	57558	broad.mit.edu	37	chr11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgacttccacagactgGtcttctaatgtgaacctgct	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1017					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACAGACTGGTCTTCTAATG	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3049-3051)Gtc>Atc		ubiquitin specific peptidase 35							76	76	76					11																	77924851		2055	4179	6234	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924851G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3049G>A	11.37:g.77924851G>A	ENSP00000431876:p.Val1017Ile					USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	p.V1017I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3310	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1017						Missense_Mutation	SNP	ENST00000529308.1	37	c.3049G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.683397	0.88542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17854	2.93;3.04;2.25;3.03	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000404	T	0.40619	0.1124	L	0.61218	1.895	0.47698	D	0.999495	D;D	0.69078	0.984;0.997	D;D	0.73708	0.967;0.981	T	0.31251	-0.9950	10	0.87932	D	0	-37.6217	17.842	0.88718	0.0:0.0:1.0:0.0	.	1017;603	Q9P2H5;E7EWV7	UBP35_HUMAN;.	I	585;1017;603;748	ENSP00000435468:V585I;ENSP00000431876:V1017I;ENSP00000400825:V603I;ENSP00000434942:V748I	ENSP00000400825:V603I	V	+	1	0	USP35	77602499	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.713000	0.74686	2.436000	0.82500	0.558000	0.71614	GTC		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		45	216	0	0	0	1	0	45	216					A	77924851	G	A	77924851	3	1	79	1	0	0	0	0	1	0	0	0	17120	1261	44	2	3087	2	USP35	11	77924851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3204	77924851	57081665	12488	22805											
GAB2	9846	broad.mit.edu	37	chr11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggtgctcttcttagggGcaggactgttcgtgccactg	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	604					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1810-1812)gCc>gTc		GRB2-associated binding protein 2							80	76	77					11																	77931441		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77931441G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1811C>T	11.37:g.77931441G>A	ENSP00000354952:p.Ala604Val					GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	p.A604V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		9	1896	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		604					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1811C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205475	0.58234	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.19806	2.12;2.12	5.61	5.61	0.85477	.	0.067531	0.64402	U	0.000018	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.18429	-1.0337	10	0.07325	T	0.83	-25.4457	20.0018	0.97417	0.0:0.0:1.0:0.0	.	604	Q9UQC2	GAB2_HUMAN	V	566;604	ENSP00000343959:A566V;ENSP00000354952:A604V	ENSP00000343959:A566V	A	-	2	0	GAB2	77609089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	GCC		0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		67	288	0	0	0	1	0	67	288					A	77931441	G	A	77931441	3	1	79	1	0	0	0	0	1	0	0	0	6176	1203	42	2	227	2	GAB2	11	77931441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6590	77931441	57075075	12489	22806											
GAB2	9846	broad.mit.edu	37	chr11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgacctcggtgaagtcGgctgttgtccattgcaggga	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	399					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1195-1197)Cga>Tga		GRB2-associated binding protein 2							149	127	135					11																	77937523		2199	4292	6491	SO:0001587	stop_gained	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937523G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1195C>T	11.37:g.77937523G>A	ENSP00000354952:p.Arg399*					GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	p.R399*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1280	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		399					A2RRM2|A6NEW9|A7MD36|O60317	Nonsense_Mutation	SNP	ENST00000361507.4	37	c.1195C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678256	0.96764	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	.	.	.	5.21	4.28	0.50868	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3846	13.3867	0.60799	0.0:0.0:0.6566:0.3434	.	.	.	.	X	361;399	.	ENSP00000343959:R361X	R	-	1	2	GAB2	77615171	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.405000	0.59741	1.292000	0.44672	0.561000	0.74099	CGA		0.542	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		75	473	0	0	0	1	0	75	473					A	77937523	G	A	77937523	4	1	79	1	0	0	0	0	0	1	0	0	6176	1124	39	1	863	1	GAB2	11	77937523	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6082	77937523	57068993	12490	22807											
NARS2	79731	broad.mit.edu	37	chr11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaagtgaggatattgtcGcagatactccagaggatgcc	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000281038.5	-	4	793	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	140					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(418-420)Cga>Tga		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						91	89	90					11																	78277273		2200	4291	6491	SO:0001587	stop_gained	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277273G>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.418C>T	11.37:g.78277273G>A	ENSP00000281038:p.Arg140*					NARS2_ENST00000528850.1_5'UTR	p.R140*	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			4	793	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		140					G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	37	c.418C>T	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198350	0.79015	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3496	11.5876	0.50927	0.0:0.0:0.3858:0.6142	.	.	.	.	X	140	.	ENSP00000281038:R140X	R	-	1	2	NARS2	77954921	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	1.833000	0.39161	0.898000	0.36418	-0.264000	0.10439	CGA		0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		76	310	0	0	0	1	0	76	310					A	78277273	G	A	78277273	4	1	79	1	0	0	0	0	0	1	0	0	10212	1095	38	1	1059	1	NARS2	11	78277273	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339750	78277273	56729243	12491	22808											
ODZ4	26011	broad.mit.edu	37	chr11	78369282	78369282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccttcctccccttcccGcagtctctgctgctcgcggg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369282G>A	ENST00000278550.7	-	34	8593	c.8131C>T	c.(8131-8133)Cgg>Tgg	p.R2711W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2711					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCCCCTTCCCGCAGTCTCTGC	0.667																																						ENST00000278550.7																			0											c.(8131-8133)Cgg>Tgg		teneurin transmembrane protein 4							49	56	53					11																	78369282		2035	4181	6216	SO:0001583	missense	26011							g.chr11:78369282G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8131C>T	11.37:g.78369282G>A	ENSP00000278550:p.Arg2711Trp						p.R2711W	NM_001098816.2	NP_001092286.2					34	8593	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8131C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782103	0.70222	.	.	ENSG00000149256	ENST00000278550	D	0.90563	-2.69	5.65	4.73	0.59995	.	0.058269	0.64402	D	0.000002	D	0.94427	0.8207	M	0.70595	2.14	0.51482	D	0.999927	D	0.89917	1.0	D	0.79784	0.993	D	0.94210	0.7458	9	.	.	.	.	15.1939	0.73071	0.0:0.0:0.7447:0.2553	.	2711	Q6N022	TEN4_HUMAN	W	2711	ENSP00000278550:R2711W	.	R	-	1	2	ODZ4	78046930	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.210000	0.58500	1.602000	0.50124	0.655000	0.94253	CGG		0.667	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			63	306	0	0	0	1	0	63	306					A	78369282	G	A	78369282	3	1	79	1	0	0	0	0	1	0	0	0	10879	1086	38	1	182	1	ODZ4	11	78369282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92009	78369282	56637234	12492	22809											
ODZ4	26011	broad.mit.edu	37	chr11	78369427	78369427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggatgtctgtgtaGcgtctagtcctgccattaag	13	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369427G>A	ENST00000278550.7	-	34	8448	c.7986C>T	c.(7984-7986)cgC>cgT	p.R2662R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2662					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTCTGTGTAGCGTCTAGTCC	0.602																																						ENST00000278550.7																			0											c.(7984-7986)cgC>cgT		teneurin transmembrane protein 4							61	69	66					11																	78369427		2120	4251	6371	SO:0001819	synonymous_variant	26011							g.chr11:78369427G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7986C>T	11.37:g.78369427G>A							p.R2662R	NM_001098816.2	NP_001092286.2					34	8448	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7986C>T	CCDS44688.1																																																																																				0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			28	139	0	0	0	1	0	28	139					A	78369427	G	A	78369427	2	1	79	1	0	0	0	0	0	0	0	1	10879	958	34	2		2	ODZ4	11	78369427	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	78369427	56637089	12493	22810											
ODZ4	26011	broad.mit.edu	37	chr11	78369860	78369860	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacactgtaccccgaggataGactgatgggggaggagagtg	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369860G>T	ENST00000278550.7	-	34	8015	c.7553C>A	c.(7552-7554)tCt>tAt	p.S2518Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2518					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCCGAGGATAGACTGATGGGG	0.478																																						ENST00000278550.7																			0											c.e34-1		teneurin transmembrane protein 4							68	69	68					11																	78369860		1933	4139	6072	SO:0001630	splice_region_variant	26011							g.chr11:78369860G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7552-1C>A	11.37:g.78369860G>T							p.S2518_splice	NM_001098816.2	NP_001092286.2					34	8015	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Splice_Site	SNP	ENST00000278550.7	37	c.7551_splice	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454953	0.63290	.	.	ENSG00000149256	ENST00000278550	D	0.89939	-2.59	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.90800	0.4693	9	.	.	.	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	2518	Q6N022	TEN4_HUMAN	Y	2518	ENSP00000278550:S2518Y	.	S	-	2	0	ODZ4	78047508	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.527000	0.73803	2.780000	0.95670	0.655000	0.94253	TCT		0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		Missense_Mutation	56	281	1	0	1.12357e-39	1	1.35923e-39	56	281					T	78369860	G	T	78369860	5	4	79	1	0	0	0	0	0	0	1	0	10879	956	33	3	760	3	ODZ4	11	78369860	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433	78369860	56636656	12494	22811											
ODZ4	26011	broad.mit.edu	37	chr11	78372542	78372542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtgtgtggatgagctcGtaggagggttccatggcatc	15	7	1	1	rs376868021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372542G>A	ENST00000278550.7	-	33	7965	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2501					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGATGAGCTCGTAGGAGGGTT	0.517																																						ENST00000278550.7																			0											c.(7501-7503)taC>taT		teneurin transmembrane protein 4		G		1,4015		0,1,2007	99	96	97		7503	-9	0.2	11		97	0,8352		0,0,4176	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,6183	AA,AG,GG		0.0,0.0249,0.0081		2501/2770	78372542	1,12367	2008	4176	6184	SO:0001819	synonymous_variant	26011							g.chr11:78372542G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7503C>T	11.37:g.78372542G>A							p.Y2501Y	NM_001098816.2	NP_001092286.2					33	7965	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7503C>T	CCDS44688.1																																																																																				0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			9	63	0	0	0	1	0	9	63					A	78372542	G	A	78372542	2	1	79	1	0	0	0	0	0	0	0	1	10879	1140	40	1		1	ODZ4	11	78372542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2682	78372542	56633974	12495	22812											
ODZ4	26011	broad.mit.edu	37	chr11	78372605	78372605	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatcacgttgtgtagctgGaatccaaaggtgagcagcca	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372605G>A	ENST00000278550.7	-	33	7902	c.7440C>T	c.(7438-7440)ttC>ttT	p.F2480F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2480					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTGTAGCTGGAATCCAAAGG	0.522																																						ENST00000278550.7																			0											c.(7438-7440)ttC>ttT		teneurin transmembrane protein 4							101	100	100					11																	78372605		2028	4195	6223	SO:0001819	synonymous_variant	26011							g.chr11:78372605G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7440C>T	11.37:g.78372605G>A							p.F2480F	NM_001098816.2	NP_001092286.2					33	7902	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7440C>T	CCDS44688.1																																																																																				0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	80	0	0	0	1	0	11	80					A	78372605	G	A	78372605	2	1	79	1	0	0	0	0	0	0	0	1	10879	1165	41	2		2	ODZ4	11	78372605	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	78372605	56633911	12496	22813											
ODZ4	26011	broad.mit.edu	37	chr11	78419498	78419498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatgatcccattctgatCgatgcgtctgatcatggtgc	12	9	3	4	rs539542652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78419498C>T	ENST00000278550.7	-	27	4579	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1373					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCATTCTGATCGATGCGTCTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21584	0.0		0.0	False		,,,				2504	0.0					ENST00000278550.7																			0											c.(4117-4119)Gat>Aat		teneurin transmembrane protein 4							107	104	105					11																	78419498		2064	4208	6272	SO:0001583	missense	26011							g.chr11:78419498C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4117G>A	11.37:g.78419498C>T	ENSP00000278550:p.Asp1373Asn						p.D1373N	NM_001098816.2	NP_001092286.2					27	4579	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4117G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652283	0.96724	.	.	ENSG00000149256	ENST00000278550	D	0.91996	-2.95	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95726	0.8770	9	.	.	.	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	1373	Q6N022	TEN4_HUMAN	N	1373	ENSP00000278550:D1373N	.	D	-	1	0	ODZ4	78097146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.878000	0.98634	0.650000	0.86243	GAT		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			27	151	0	0	0	1	0	27	151					T	78419498	C	T	78419498	3	4	79	1	0	0	0	0	1	0	0	0	10879	884	31	1	4224	1	ODZ4	11	78419498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46893	78419498	56587018	12497	22814											
ODZ4	26011	broad.mit.edu	37	chr11	78440485	78440485	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtcccaaatgaaataAtaggacaggtctggggctgc	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78440485A>C	ENST00000278550.7	-	22	3804	c.3342T>G	c.(3340-3342)taT>taG	p.Y1114*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1114					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAATGAAATAATAGGACAGGT	0.547																																						ENST00000278550.7																			0											c.(3340-3342)taT>taG		teneurin transmembrane protein 4							46	50	49					11																	78440485		1915	4114	6029	SO:0001587	stop_gained	26011							g.chr11:78440485A>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3342T>G	11.37:g.78440485A>C	ENSP00000278550:p.Tyr1114*						p.Y1114*	NM_001098816.2	NP_001092286.2					22	3804	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	ENST00000278550.7	37	c.3342T>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	A	44	11.161978	0.99525	.	.	ENSG00000149256	ENST00000278550	.	.	.	4.64	-3.33	0.04958	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0686	0.80907	0.3206:0.0:0.6794:0.0	.	.	.	.	X	1114	.	.	Y	-	3	2	ODZ4	78118133	0.936000	0.31750	0.802000	0.32245	0.991000	0.79684	0.000000	0.12993	-0.537000	0.06290	0.402000	0.26972	TAT		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			10	58	0	0	0	1	0	10	58					C	78440485	A	C	78440485	4	2	79	1	0	0	0	0	0	1	0	0	10879	108	4	4	5019	4	ODZ4	11	78440485	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20987	78440485	56566031	12498	22815											
FAM181B	220382	broad.mit.edu	37	chr11	82444612	82444612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgtcccctccttcggCtcccgacagcagcgcacccg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	ENST00000329203.3	-	1	294	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	54										large_intestine(1)|lung(2)|prostate(1)	4						CCTCCTTCGGCTCCCGACAGC	0.682																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(160-162)Gcc>Acc		family with sequence similarity 181, member B							18	18	18					11																	82444612		2202	4299	6501	SO:0001583	missense	220382							g.chr11:82444612C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.160G>A	11.37:g.82444612C>T	ENSP00000365295:p.Ala54Thr						p.A54T	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	294	-			54					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.160G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502213	0.12822	.	.	ENSG00000182103	ENST00000329203	T	0.31510	1.49	3.79	1.59	0.23543	.	1.269860	0.06393	U	0.717378	T	0.14917	0.0360	N	0.08118	0	0.25154	N	0.990404	B	0.14438	0.01	B	0.14578	0.011	T	0.31861	-0.9928	9	.	.	.	.	4.8862	0.13704	0.2079:0.6558:0.0:0.1363	.	54	A6NEQ2	F181B_HUMAN	T	54	ENSP00000365295:A54T	.	A	-	1	0	FAM181B	82122260	0.065000	0.20965	0.221000	0.23827	0.029000	0.11900	0.237000	0.17985	0.143000	0.18926	0.455000	0.32223	GCC		0.682	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		7	101	0	0	0	1	0	7	101					T	82444612	C	T	82444612	3	4	79	1	0	0	0	0	1	0	0	0	5530	797	28	2	1124	2	FAM181B	11	82444612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4004127	82444612	52561904	12499	22816											
FAM181B	220382	broad.mit.edu	37	chr11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgacagcagcgcacccgCcggagccccggtctcatcgt	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(139-141)Gcg>Acg		family with sequence similarity 181, member B							13	15	14					11																	82444633		2178	4270	6448	SO:0001583	missense	220382							g.chr11:82444633C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.139G>A	11.37:g.82444633C>T	ENSP00000365295:p.Ala47Thr						p.A47T	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	273	-			47					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.139G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803751	0.50315	.	.	ENSG00000182103	ENST00000329203	T	0.32272	1.46	3.51	3.51	0.40186	.	0.860133	0.09314	U	0.819132	T	0.24005	0.0581	N	0.22421	0.69	0.28960	N	0.889904	P	0.42518	0.782	B	0.40256	0.324	T	0.07597	-1.0764	9	.	.	.	.	13.3973	0.60861	0.0:1.0:0.0:0.0	.	47	A6NEQ2	F181B_HUMAN	T	47	ENSP00000365295:A47T	.	A	-	1	0	FAM181B	82122281	0.876000	0.30132	0.984000	0.44739	0.022000	0.10575	1.156000	0.31712	1.800000	0.52685	0.455000	0.32223	GCG		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		19	84	0	0	0	1	0	19	84					T	82444633	C	T	82444633	3	4	79	1	0	0	0	0	1	0	0	0	5530	739	26	2	1145	2	FAM181B	11	82444633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	82444633	52561883	12500	22817											
PRCP	5547	broad.mit.edu	37	chr11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatcagccagagcttgttCtgatgtcaggaaattcaagt	9	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	148					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(442-444)Gaa>Taa		prolylcarboxypeptidase (angiotensinase C)							120	120	120					11																	82561517		2203	4300	6503	SO:0001587	stop_gained	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82561517C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.442G>T	11.37:g.82561517C>A	ENSP00000317362:p.Glu148*					PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	p.E148*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			4	636	-			148					A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	c.442G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176326	0.78564	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6616	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	148;169;43;43;43;43;43;43;107;43;94;43	.	.	E	-	1	0	PRCP	82239165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.801000	0.96364	0.650000	0.86243	GAA		0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		103	473	1	0	5.50669e-55	1	6.87845e-55	103	473					A	82561517	C	A	82561517	4	1	79	1	0	0	0	0	0	1	0	0	12496	922	32	3	1072	3	PRCP	11	82561517	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116884	82561517	52444999	12501	22818											
C11orf82	220042	broad.mit.edu	37	chr11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattttttggtcttactgCcactggtttgcacaggtaag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		87					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(259-261)gCc>gTc		chromosome 11 open reading frame 82							120	119	119					11																	82639965		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82639965C>T																												ENST00000533655.1:c.260C>T	11.37:g.82639965C>T	ENSP00000435421:p.Ala87Val					C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V	p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			4	472	+			87					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.260C>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431538	0.83776	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53857	0.6;0.6	5.75	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.73241	0.3562	M	0.81239	2.535	0.41499	D	0.988277	D;D	0.89917	0.983;1.0	P;D	0.68192	0.808;0.956	T	0.77148	-0.2694	9	.	.	.	.	16.8517	0.85996	0.0:0.8715:0.1285:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	V	87;87;87;87;148;87;87	ENSP00000414687:A87V;ENSP00000435421:A87V	.	A	+	2	0	C11orf82	82317613	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.673000	0.68109	1.406000	0.46857	0.557000	0.71058	GCC		0.313	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			64	317	0	0	0	1	0	64	317					T	82639965	C	T	82639965	3	4	79	1	0	0	0	0	1	0	0	0	1670	739	26	2	266	2	C11orf82	11	82639965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78448	82639965	52366551	12502	22819											
PCF11	51585	broad.mit.edu	37	chr11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtatcaggtttgaaggcCctttagtccaacaaggaggt	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	998	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2992-2994)Cct>Tct		PCF11 cleavage and polyadenylation factor subunit							93	93	93					11																	82880369		1919	4126	6045	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880369C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2992C>T	11.37:g.82880369C>T	ENSP00000298281:p.Pro998Ser						p.P998S	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	3444	+			998			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2992C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856840	0.32791	.	.	ENSG00000165494	ENST00000298281	T	0.34667	1.35	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.50650	0.1628	L	0.50333	1.59	0.50632	D	0.999881	D	0.62365	0.991	P	0.55667	0.781	T	0.26538	-1.0100	9	.	.	.	-10.5135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	998	O94913	PCF11_HUMAN	S	998	ENSP00000298281:P998S	.	P	+	1	0	PCF11	82558017	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.732000	0.62029	2.826000	0.97356	0.655000	0.94253	CCT		0.512	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		47	190	0	0	0	1	0	47	190					T	82880369	C	T	82880369	3	4	79	1	0	0	0	0	1	0	0	0	11615	623	22	2	3022	2	PCF11	11	82880369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240404	82880369	52126147	12503	22820											
CCDC90B	60492	broad.mit.edu	37	chr11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggaagcaatttcagcgTcaattttattactggtctct	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	214						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338																																						ENST00000529689.1																			0				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(640-642)gAc>gGc		coiled-coil domain containing 90B							139	136	137					11																	82976975		2202	4298	6500	SO:0001583	missense	60492					integral to membrane|mitochondrion		g.chr11:82976975T>C	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.641A>G	11.37:g.82976975T>C	ENSP00000434724:p.Asp214Gly					CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A	p.D214G			Q9GZT6	CC90B_HUMAN			8	1075	-		Acute lymphoblastic leukemia(157;0.103)	214					A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.641A>G	CCDS8266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876845|4.876845	0.91664|0.91664	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611|ENST00000529073	T;T;T;T|T	0.61627|0.32023	0.09;0.09;0.09;0.09|1.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.087407|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88105|0.88105	2.93|2.93	0.32384|0.32384	N|N	0.554177|0.554177	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.73285|0.73285	-0.4031|-0.4031	9|6	.|.	.|.	.|.	-12.0863|-12.0863	15.933|15.933	0.79679|0.79679	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;214|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	G|A	214;205;113;113|203	ENSP00000434724:D214G;ENSP00000390990:D205G;ENSP00000431424:D113G;ENSP00000431345:D113G|ENSP00000431523:T203A	.|.	D|T	-|-	2|1	0|0	CCDC90B|CCDC90B	82654623|82654623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.044000|7.044000	0.76578|0.76578	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GAC|ACG		0.338	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		60	301	0	0	0	1	0	60	301					C	82976975	T	C	82976975	3	2	79	1	0	0	0	0	1	0	0	0	2876	1667	58	4	131	4	CCDC90B	11	82976975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96606	82976975	52029541	12504	22821											
DLG2	1740	broad.mit.edu	37	chr11	83641454	83641455	+	De_novo_Start_OutOfFrame	INS	-	-	T													agcttttgtcacactcaacaINSggggaatagtgcctgggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	ENST00000376106.3	-	0	930_931				DLG2_ENST00000537455.1_Frame_Shift_Ins_p.P120fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.P333fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.P305fs|DLG2_ENST00000543673.1_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000398309.2_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.P471fs			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)			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)				CACACTCAACAGGGGAATAGTG	0.505																																						ENST00000376106.3																			0				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								discs, large homolog 2 (Drosophila)																																						1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83641454_83641455insT	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	ENST00000376106.3:c.-458->A	11.37:g.83641454_83641455insT						DLG2_ENST00000543673.1_Frame_Shift_Ins_p.R471fs|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.R120fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.R305fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.R333fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000398309.2_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.R471fs				Q15700	DLG2_HUMAN			0	930_931	-		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	Translation_Start_Site	INS	ENST00000376106.3	37		CCDS44692.1																																																																																				0.505	DLG2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001364		86	429						86	429	---	---	---	---	T	83641455	-	T	83641454	6	5	79	1	0	1	1	0	0	0	0	0	4571	175	7	0		0	DLG2	11	83641454	De_novo_Start_OutOfFrame	INS	-	TCGA-IB-7651-01A-11D-2154-08	664479	83641454	51365062	12505	22822											
DLG2	1740	broad.mit.edu	37	chr11	84245751	84245751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatgatcatgtggagcGtcctcatcttgatatcgata	10	7	3	2	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000532653.1	-	2	368	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000398309.2_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			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)				CATGTGGAGCGTCCTCATCTT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20971	0.0		0.0	False		,,,				2504	0.001					ENST00000398309.2																			0				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						c.(64-66)gaC>gaT		discs, large homolog 2 (Drosophila)		G	,	0,3754		0,0,1877	179	167	171		381,66	-4	0.9	11	dbSNP_134	171	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous	DLG2	NM_001142699.1,NM_001364.3	,	0,2,5989	AA,AG,GG		0.0243,0.0,0.0167	,	127/976,22/871	84245751	2,11980	1877	4114	5991	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245751G>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.66C>T	11.37:g.84245751G>A						DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000532653.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D	p.D22D	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	536	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	22					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.66C>T																																																																																					0.383	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		141	600	0	0	0	1	0	141	600					A	84245751	G	A	84245751	2	1	79	1	0	0	0	0	0	0	0	1	4571	1136	40	1		1	DLG2	11	84245751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604297	84245751	50760765	12506	22823											
DLG2	1740	broad.mit.edu	37	chr11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgttagtccggagtgCacagtaacatgcaaagaaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000532653.1	-	1	324	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000398309.2_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			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)				GTCCGGAGTGCACAGTAACAT	0.493																																						ENST00000398309.2																			0				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						c.(22-24)Gca>Aca		discs, large homolog 2 (Drosophila)							68	71	70					11																	84634141		2081	4219	6300	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84634141C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.22G>A	11.37:g.84634141C>T	ENSP00000435849:p.Ala8Thr					DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000532653.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron	p.A8T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			1	492	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	8					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308491	0.40895	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	T;T;T	0.12984	2.68;2.68;2.63	5.95	5.95	0.96441	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	P;B;B	0.49447	0.924;0.032;0.019	P;B;B	0.57776	0.827;0.017;0.028	T	0.05419	-1.0886	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2T4;E9PN83;Q15700	.;.;DLG2_HUMAN	T	8	ENSP00000381355:A8T;ENSP00000432894:A8T;ENSP00000435849:A8T	.	A	-	1	0	DLG2	84311789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.821000	0.97095	0.650000	0.86243	GCA		0.493	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		40	218	0	0	0	1	0	40	218					T	84634141	C	T	84634141	3	4	79	1	0	0	0	0	1	0	0	0	4571	710	25	2	2841	2	DLG2	11	84634141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388390	84634141	50372375	12507	22824											
CREBZF	58487	broad.mit.edu	37	chr11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatttcagcagccgcgGcctcatcgtcatcgtcccct	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	151					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647																																					NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(451-453)gCc>gTc		CREB/ATF bZIP transcription factor							26	30	29					11																	85375468		2015	4189	6204	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375468G>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.452C>T	11.37:g.85375468G>A	ENSP00000433459:p.Ala151Val					CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V	p.A151V	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	678	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	151					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.452C>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349764	0.61183	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	.	0.236704	0.24345	N	0.039330	T	0.24967	0.0606	N	0.14661	0.345	0.26011	N	0.98199	B	0.23377	0.084	B	0.18871	0.023	T	0.09271	-1.0682	8	.	.	.	-25.8693	12.725	0.57166	0.0:0.0:1.0:0.0	.	151	Q9NS37	ZHANG_HUMAN	V	69;151	.	.	A	-	2	0	CREBZF	85053116	0.998000	0.40836	0.995000	0.50966	0.699000	0.40488	1.618000	0.36954	2.366000	0.80165	0.561000	0.74099	GCC		0.647	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		80	264	0	0	0	1	0	80	264					A	85375468	G	A	85375468	3	1	79	1	0	0	0	0	1	0	0	0	3872	1203	42	2	616	2	CREBZF	11	85375468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741327	85375468	49631048	12508	22825											
CCDC89	220388	broad.mit.edu	37	chr11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgttcttcagggggcgggGtgtccatcctgggagcctgc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGGGCGGGGTGTCCATCCT	0.527																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(46-48)aCc>aTc		coiled-coil domain containing 89							67	70	69					11																	85397127		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85397127G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.47C>T	11.37:g.85397127G>A	ENSP00000320649:p.Thr16Ile						p.T16I	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	193	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	16						Missense_Mutation	SNP	ENST00000316398.3	37	c.47C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796267	0.31777	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.61	3.75	0.43078	.	0.411501	0.17492	N	0.172313	T	0.43831	0.1265	L	0.57536	1.79	0.22552	N	0.998991	B	0.15473	0.013	B	0.19148	0.024	T	0.30208	-0.9986	8	.	.	.	-2.6236	12.1409	0.53996	0.1409:0.0:0.8591:0.0	.	16	Q8N998	CCD89_HUMAN	I	16	.	.	T	-	2	0	CCDC89	85074775	0.015000	0.18098	0.566000	0.28421	0.177000	0.22998	1.749000	0.38319	0.736000	0.32559	-0.136000	0.14681	ACC		0.527	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		15	475	0	0	0	1	0	15	475					A	85397127	G	A	85397127	3	1	79	1	0	0	0	0	1	0	0	0	2873	1261	44	2	1081	2	CCDC89	11	85397127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21659	85397127	49609389	12509	22826											
SYTL2	54843	broad.mit.edu	37	chr11	85435654	85435654	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctcactgacacctgggGctgataaggaggagcttcag	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85435654G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1140S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACACCTGGGGCTGATAAGGA	0.478																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3418-3420)Ccc>Tcc		synaptotagmin-like 2							65	64	64					11																	85435654		2202	4299	6501	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435654G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3284C>T	11.37:g.85435654G>A						SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000316356.4_Intron	p.P1140S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3417	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	302					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.3418C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396190	0.04899	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.35048	1.8;1.8;1.8;1.33	6.06	0.333	0.15943	.	3.264550	0.00520	N	0.000181	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.10989	-1.0606	9	.	.	.	3.5706	4.3412	0.11110	0.3039:0.0:0.4587:0.2374	.	616;616;616	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	S	1140;616;616;35	ENSP00000352065:P1140S;ENSP00000346576:P616S;ENSP00000432694:P616S;ENSP00000435009:P35S	.	P	-	1	0	SYTL2	85113302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	-0.162000	0.10964	-1.106000	0.02097	CCC		0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		71	325	0	0	0	1	0	71	325					A	85435654	G	A	85435654	1	1	79	0	1	0	0	0	0	0	0	0	15535	1203	42	2		2	SYTL2	11	85435654	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38527	85435654	49570862	12510	22827											
SYTL2	54843	broad.mit.edu	37	chr11	85445199	85445199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgattgatgaaaaagCgaaggctttctgtattgaga	13	3	1	4	rs370756412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000316356.4_Silent_p.S391S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19078	0.0		0.0	False		,,,				2504	0.0051					ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1171-1173)tcG>tcA		synaptotagmin-like 2							145	140	142					11																	85445199		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445199C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1170G>A	11.37:g.85445199C>T						SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S	p.S391S			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1737	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	390					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1173G>A	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		112	452	0	0	0	1	0	112	452					T	85445199	C	T	85445199	2	4	79	1	0	0	0	0	0	0	0	1	15535	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9545	85445199	49561317	12511	22828											
PICALM	8301	broad.mit.edu	37	chr11	85685823	85685823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatattaaggttggttgCgtcattacaggaacacttcc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85685823C>T	ENST00000393346.3	-	19	2020	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000526033.1_Silent_p.T617T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	624					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGGTTGGTTGCGTCATTACAG	0.403			T	"MLLT10, MLL"	"TALL, AML, "																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"MLLT10, MLL"		"TALL, AML, "		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1849-1851)acG>acA		phosphatidylinositol binding clathrin assembly protein							245	204	218					11																	85685823		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85685823C>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1872G>A	11.37:g.85685823C>T						PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T|PICALM_ENST00000393346.3_Silent_p.T624T	p.T617T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			19	2167	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	624					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1851G>A	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.172|5.172	0.217324|0.217324	0.09810|0.09810	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692	.|.	.|.	.|.	5.87|5.87	2.28|2.28	0.28536|0.28536	.|.	.|.	.|.	.|.	.|.	T|T	0.55065|0.55065	0.1897|0.1897	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44065|0.44065	-0.9352|-0.9352	4|4	.|.	.|.	.|.	-10.1482|-10.1482	7.1284|7.1284	0.25486|0.25486	0.0:0.1316:0.2245:0.6439|0.0:0.1316:0.2245:0.6439	.|.	.|.	.|.	.|.	T|H	280;106;236|161	.|.	.|.	A|R	-|-	1|2	0|0	PICALM|PICALM	85363471|85363471	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	0.264000|0.264000	0.18497|0.18497	0.197000|0.197000	0.20387|0.20387	-2.283000|-2.283000	0.00269|0.00269	GCA|CGC		0.403	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		17	459	0	0	0	1	0	17	459					T	85685823	C	T	85685823	2	4	79	1	0	0	0	0	0	0	0	1	11922	755	27	1		1	PICALM	11	85685823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240624	85685823	49320693	12512	22829											
PICALM	8301	broad.mit.edu	37	chr11	85733411	85733411	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaaagcttaactcaccCtctcttcacttttgtgaaat	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000393346.3	-	4	599	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000526033.1_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000356360.5_Splice_Site_p.G151W|PICALM_ENST00000528411.1_5'Flank			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	151					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279			T	"MLLT10, MLL"	"TALL, AML, "																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"MLLT10, MLL"		"TALL, AML, "		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e4+1		phosphatidylinositol binding clathrin assembly protein							93	94	94					11																	85733411		2202	4292	6494	SO:0001630	splice_region_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85733411C>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.452+1G>T	11.37:g.85733411C>A						PICALM_ENST00000532317.1_Splice_Site_p.G151_splice|PICALM_ENST00000528398.1_Splice_Site_p.G100_splice|PICALM_ENST00000356360.5_Splice_Site_p.G151_splice|PICALM_ENST00000393346.3_Splice_Site_p.G151_splice	p.G151_splice	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			4	767	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	151					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Splice_Site	SNP	ENST00000393346.3	37	c.452_splice	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686847	0.88639	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.34	5.34	0.76211	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.90198	3.095	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;0.999;1.0	T	0.72184	-0.4367	9	.	.	.	-9.3463	19.1015	0.93276	0.0:1.0:0.0:0.0	.	100;151;151;151	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	W	151;151;151;151;100;151;117;100;117	ENSP00000436958:G151W;ENSP00000433846:G151W;ENSP00000377015:G151W;ENSP00000434884:G100W;ENSP00000348718:G151W;ENSP00000433303:G117W;ENSP00000436508:G100W;ENSP00000431545:G117W	.	G	-	1	0	PICALM	85411059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.504000	0.84457	0.461000	0.40582	GGG		0.279	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	Missense_Mutation	73	272	1	0	7.07328e-35	1	8.4269e-35	73	272					A	85733411	C	A	85733411	5	1	79	1	0	0	0	0	0	0	1	0	11922	695	24	3	1603	3	PICALM	11	85733411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47588	85733411	49273105	12513	22830											
EED	8726	broad.mit.edu	37	chr11	85967452	85967452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaacttttacacttgTgcatggacctatgatagcaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000263360.6	+	5	1136	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	150	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(448-450)tgT>tgC		embryonic ectoderm development							95	95	95					11																	85967452		2202	4299	6501	SO:0001819	synonymous_variant	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85967452T>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.450T>C	11.37:g.85967452T>C						EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			5	1136	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	150			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	c.450T>C	CCDS8273.1																																																																																				0.323	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		70	244	0	0	0	1	0	70	244					C	85967452	T	C	85967452	2	2	79	1	0	0	0	0	0	0	0	1	4938	1702	59	4		4	EED	11	85967452	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234041	85967452	49039064	12514	22831											
EED	8726	broad.mit.edu	37	chr11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgctggaaacctggcAagatggaagatgatatagat	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000263360.6	+	10	1689	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	335	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAAACCTGGCAAGATGGAAGA	0.353																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1003-1005)Aag>Cag		embryonic ectoderm development							98	98	98					11																	85988058		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988058A>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1003A>C	11.37:g.85988058A>C	ENSP00000263360:p.Lys335Gln					EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q	p.K335Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			10	1689	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	335			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1003A>C	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294009	0.40594	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T;T	0.53206	0.63;1.57;0.63;0.63	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050105	0.85682	D	0.000000	T	0.29850	0.0746	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23735	0.0;0.09;0.006;0.0	B;B;B;B	0.19391	0.0;0.015;0.025;0.0	T	0.12528	-1.0544	9	.	.	.	-15.9168	16.0343	0.80612	1.0:0.0:0.0:0.0	.	335;255;360;335	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	335;255;360;335;84	ENSP00000263360:K335Q;ENSP00000431778:K255Q;ENSP00000338186:K360Q;ENSP00000315587:K335Q	.	K	+	1	0	EED	85665706	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.875000	0.75551	2.198000	0.70561	0.533000	0.62120	AAG		0.353	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		12	278	0	0	0	1	0	12	278					C	85988058	A	C	85988058	3	2	79	1	0	0	0	0	1	0	0	0	4938	131	5	4	1041	4	EED	11	85988058	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20606	85988058	49018458	12515	22832											
EED	8726	broad.mit.edu	37	chr11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattacagccagtgtgacAtttggtacatgaggttttct	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000263360.6	+	10	1773	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000351625.6_Missense_Mutation_p.I388V|EED_ENST00000327320.4_Missense_Mutation_p.I363V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	363	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1087-1089)Att>Gtt		embryonic ectoderm development							168	171	170					11																	85988142		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988142A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1087A>G	11.37:g.85988142A>G	ENSP00000263360:p.Ile363Val					EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000351625.6_Missense_Mutation_p.I388V	p.I363V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			10	1773	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	363			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1087A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856552	0.91355	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T;T	0.64618	1.71;1.62;1.71;1.71;-0.11	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.56280	1.765	0.80722	D	1	P;D;P;B	0.59357	0.684;0.985;0.867;0.226	P;D;P;B	0.67548	0.525;0.952;0.664;0.19	T	0.73363	-0.4006	9	.	.	.	-14.2414	16.0343	0.80612	1.0:0.0:0.0:0.0	.	363;283;388;363	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	363;283;388;363;112;28;28	ENSP00000263360:I363V;ENSP00000431778:I283V;ENSP00000338186:I388V;ENSP00000315587:I363V;ENSP00000437318:I28V	.	I	+	1	0	EED	85665790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.198000	0.70561	0.533000	0.62120	ATT		0.358	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		101	444	0	0	0	1	0	101	444					G	85988142	A	G	85988142	3	3	79	1	0	0	0	0	1	0	0	0	4938	217	8	4	1125	4	EED	11	85988142	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	85988142	49018374	12516	22833											
PRSS23	11098	broad.mit.edu	37	chr11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacttggcctgcataccGcctccctgtcgtcttgcccc	7	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	36						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(106-108)cGc>cAc		protease, serine, 23							113	110	111					11																	86518792		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518792G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.107G>A	11.37:g.86518792G>A	ENSP00000280258:p.Arg36His					PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H|PRSS23_ENST00000533902.2_Intron	p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	532	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	36					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.107G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420746	0.62622	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.95	0.45737	.	0.057555	0.64402	D	0.000002	T	0.45617	0.1351	L	0.44542	1.39	0.42263	D	0.992025	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.29336	-1.0015	8	.	.	.	-11.6981	9.5078	0.39058	0.2122:0.0:0.7878:0.0	.	36;36	B4E2J3;O95084	.;PRS23_HUMAN	H	36	.	.	R	+	2	0	PRSS23	86196440	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.761000	0.47589	0.817000	0.34445	-0.136000	0.14681	CGC		0.542	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		64	459	0	0	0	1	0	64	459					A	86518792	G	A	86518792	3	1	79	1	0	0	0	0	1	0	0	0	12667	1087	38	1	109	1	PRSS23	11	86518792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530650	86518792	48487724	12517	22834											
PRSS23	11098	broad.mit.edu	37	chr11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtggtcgaggggccaacGactccacttcagccatgccc	12	14	1	0	rs149020963	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	208						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(622-624)Gac>Aac		protease, serine, 23		G	ASN/ASP	0,4402		0,0,2201	38	36	37		622	-10.7	0	11	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRSS23	NM_007173.4	23	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	208/384	86519307	1,12999	2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519307G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.622G>A	11.37:g.86519307G>A	ENSP00000280258:p.Asp208Asn					PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N|PRSS23_ENST00000533902.2_Intron	p.D208N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1047	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	208					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.622G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614015	0.14066	0.0	1.16E-4	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.88664	-2.41;-2.41	6.06	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.727610	0.02331	N	0.073976	T	0.78259	0.4255	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62215	-0.6901	9	.	.	.	-0.1783	8.0381	0.30504	0.6445:0.1543:0.1236:0.0776	.	176;208	B4E2J3;O95084	.;PRS23_HUMAN	N	208;176	ENSP00000280258:D208N;ENSP00000393015:D176N	.	D	+	1	0	PRSS23	86196955	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-0.662000	0.05305	-2.173000	0.00773	-0.140000	0.14226	GAC		0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		37	157	0	0	0	1	0	37	157					A	86519307	G	A	86519307	3	1	79	1	0	0	0	0	1	0	0	0	12667	1058	37	1	624	1	PRSS23	11	86519307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	86519307	48487209	12518	22835											
PRSS23	11098	broad.mit.edu	37	chr11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgtggaagagacaGcagcagaagtgggagcgaaa	18	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	328						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAGAGACAGCAGCAGAAGT	0.527																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(982-984)caG>caT		protease, serine, 23							88	96	93					11																	86519669		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519669G>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.984G>T	11.37:g.86519669G>T	ENSP00000280258:p.Gln328His					PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H|PRSS23_ENST00000533902.2_Intron	p.Q328H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1409	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	328					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.984G>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089988	0.36855	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.74	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.695759	0.15293	N	0.270060	T	0.33847	0.0877	N	0.08118	0	0.34112	D	0.663066	P;P	0.37612	0.602;0.602	P;B	0.45377	0.478;0.353	T	0.41627	-0.9498	8	.	.	.	-0.5852	10.6054	0.45392	0.0725:0.1339:0.7936:0.0	.	296;328	B4E2J3;O95084	.;PRS23_HUMAN	H	328;296	.	.	Q	+	3	2	PRSS23	86197317	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.917000	0.48821	0.727000	0.32360	0.563000	0.77884	CAG		0.527	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		13	405	1	0	5.50884e-06	1	5.65664e-06	13	405					T	86519669	G	T	86519669	3	4	79	1	0	0	0	0	1	0	0	0	12667	962	34	3	986	3	PRSS23	11	86519669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	86519669	48486847	12519	22836											
TMEM135	65084	broad.mit.edu	37	chr11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatgaggaaaaacccggaaGaatgaatatgattggtctag	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000305494.5	+	8	695	c.656G>A	c.(655-657)aGa>aAa	p.R219K	TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000340353.7_Missense_Mutation_p.R197K|TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	219					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(589-591)aGa>aAa		transmembrane protein 135							153	164	160					11																	87013442		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:87013442G>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.656G>A	11.37:g.87013442G>A	ENSP00000306344:p.Arg219Lys					TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000305494.5_Missense_Mutation_p.R219K	p.R197K	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			7	792	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	219					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.590G>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715959	0.15306	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.43294	0.96;0.96;0.95;0.96	5.55	2.51	0.30379	.	0.651371	0.16326	N	0.219326	T	0.31857	0.0810	L	0.47716	1.5	0.27324	N	0.956958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20907	-1.0261	9	.	.	.	-20.9088	7.203	0.25891	0.1573:0.267:0.5758:0.0	.	197;219	Q86UB9-2;Q86UB9	.;TM135_HUMAN	K	197;56;90;219;80	ENSP00000345513:R197K;ENSP00000436179:R90K;ENSP00000306344:R219K;ENSP00000439525:R80K	.	R	+	2	0	TMEM135	86691090	1.000000	0.71417	0.503000	0.27626	0.079000	0.17450	0.990000	0.29642	0.319000	0.23209	0.655000	0.94253	AGA		0.368	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		115	412	0	0	0	1	0	115	412					A	87013442	G	A	87013442	3	1	79	1	0	0	0	0	1	0	0	0	16103	942	33	2	686	2	TMEM135	11	87013442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493773	87013442	47993074	12520	22837											
RAB38	23682	broad.mit.edu	37	chr11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagtccacgccgattgtgGcccggtagtgcgaagagaag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	40					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(118-120)gCc>gTc		RAB38, member RAS oncogene family							104	74	84					11																	87908434		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87908434G>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.119C>T	11.37:g.87908434G>A	ENSP00000243662:p.Ala40Val						p.A40V	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			1	201	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	40					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.119C>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.023787|6.023787	0.97211|0.97211	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.80653|.	-1.4|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71414|.	0.973|.	T|T	0.63466|0.63466	-0.6631|-0.6631	9|5	.|.	.|.	.|.	-3.4587|-3.4587	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P57729|.	RAB38_HUMAN|.	V|S	40|57	ENSP00000243662:A40V|.	.|.	A|P	-|-	2|1	0|0	RAB38|RAB38	87548082|87548082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.538000|9.538000	0.98072|0.98072	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.622	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			31	182	0	0	0	1	0	31	182					A	87908434	G	A	87908434	3	1	79	1	0	0	0	0	1	0	0	0	12978	1203	42	2	528	2	RAB38	11	87908434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894992	87908434	47098082	12521	22838											
GRM5	2915	broad.mit.edu	37	chr11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgcgccagcgccagCgcccaggccacggctctccg	12	22	1	0	rs199674837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000305447.4	-	9	3036	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	963					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCAGCGCCAGCGCCCAGGCCA	0.726																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2887-2889)Gct>Act		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						15	17	16					11																	88242512		1999	3959	5958	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242512C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2887G>A	11.37:g.88242512C>T	ENSP00000306138:p.Ala963Thr					GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5_ENST00000305447.4_Missense_Mutation_p.A963T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA	p.A963T			P41594	GRM5_HUMAN			10	3254	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	963					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2887G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142761	0.06669	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29	3.95	2.03	0.26663	.	.	.	.	.	T	0.68174	0.2972	N	0.08118	0	0.09310	N	1	B;B	0.28208	0.005;0.203	B;B	0.15052	0.002;0.012	T	0.55335	-0.8157	8	.	.	.	.	4.7756	0.13178	0.2113:0.6773:0.0:0.1114	.	931;963	P41594-2;P41594	.;GRM5_HUMAN	T	963;931;931;963	ENSP00000402912:A963T;ENSP00000405690:A931T;ENSP00000305905:A931T;ENSP00000306138:A963T	.	A	-	1	0	GRM5	87882160	.	.	0.110000	0.21437	0.016000	0.09150	.	.	0.600000	0.29862	0.563000	0.77884	GCT		0.726	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		35	156	0	0	0	1	0	35	156					T	88242512	C	T	88242512	3	4	79	1	0	0	0	0	1	0	0	0	6830	768	27	1	755	1	GRM5	11	88242512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334078	88242512	46764004	12522	22839											
GRM5	2915	broad.mit.edu	37	chr11	88300355	88300355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaggcgctgcgcacGtttctctctggtttggccag	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000305447.4	-	7	2645	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	832					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGCTGCGCACGTTTCTCTCTG	0.567																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2494-2496)aaC>aaT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						139	108	118					11																	88300355		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300355G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2496C>T	11.37:g.88300355G>A						GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000305447.4_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N	p.N832N			P41594	GRM5_HUMAN			8	2863	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	832					Q6J164	Silent	SNP	ENST00000305447.4	37	c.2496C>T	CCDS44694.1																																																																																				0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		74	285	0	0	0	1	0	74	285					A	88300355	G	A	88300355	2	1	79	1	0	0	0	0	0	0	0	1	6830	1136	40	1		1	GRM5	11	88300355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57843	88300355	46706161	12523	22840											
GRM5	2915	broad.mit.edu	37	chr11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaggctgaccgagaaAcacatggtgatgattttgta	12	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000305447.4	-	7	2558	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	803					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGACCGAGAAACACATGGTGA	0.502																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2407-2409)tgT>tgG		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						147	125	132					11																	88300442		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300442A>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2409T>G	11.37:g.88300442A>C	ENSP00000306138:p.Cys803Trp					GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000305447.4_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W	p.C803W			P41594	GRM5_HUMAN			8	2776	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	803					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2409T>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892150	0.52014	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.58	-0.931	0.10438	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91364	0.5114	9	.	.	.	.	10.6791	0.45804	0.5453:0.0:0.4547:0.0	.	803;803	P41594-2;P41594	.;GRM5_HUMAN	W	803	ENSP00000402912:C803W;ENSP00000405690:C803W;ENSP00000305905:C803W;ENSP00000306138:C803W;ENSP00000376975:C803W	.	C	-	3	2	GRM5	87940090	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.133000	0.42093	-0.165000	0.10908	0.459000	0.35465	TGT		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		89	399	0	0	0	1	0	89	399					C	88300442	A	C	88300442	3	2	79	1	0	0	0	0	1	0	0	0	6830	41	2	4	1241	4	GRM5	11	88300442	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	88300442	46706074	12524	22841											
GRM5	2915	broad.mit.edu	37	chr11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagactacagtaacaAacagggtggccaggaggcca	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000305447.4	-	7	1936	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	596					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TACAGTAACAAACAGGGTGGC	0.517																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1786-1788)tTt>tCt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						70	65	67					11																	88301064		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88301064A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1787T>C	11.37:g.88301064A>G	ENSP00000306138:p.Phe596Ser					GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000305447.4_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S	p.F596S			P41594	GRM5_HUMAN			8	2154	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	596					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1787T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445172	0.63178	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	L	0.50333	1.59	0.51482	D	0.999926	D;D	0.76494	0.999;0.98	D;P	0.80764	0.994;0.828	D	0.91831	0.5475	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	596;596	P41594-2;P41594	.;GRM5_HUMAN	S	596	ENSP00000402912:F596S;ENSP00000405690:F596S;ENSP00000305905:F596S;ENSP00000306138:F596S;ENSP00000376975:F596S	.	F	-	2	0	GRM5	87940712	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	7.576000	0.82467	2.187000	0.69744	0.533000	0.62120	TTT		0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		10	221	0	0	0	1	0	10	221					G	88301064	A	G	88301064	3	3	79	1	0	0	0	0	1	0	0	0	6830	14	1	4	1863	4	GRM5	11	88301064	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	622	88301064	46705452	12525	22842											
GRM5	2915	broad.mit.edu	37	chr11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgtttctggccggaGcttcagataataatcatcaa	10	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000305447.4	-	3	1179	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	344					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGGCCGGAGCTTCAGATAA	0.458																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1030-1032)Ctc>Ttc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						94	95	95					11																	88386453		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386453G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1030C>T	11.37:g.88386453G>A	ENSP00000306138:p.Leu344Phe					GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000305447.4_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F	p.L344F			P41594	GRM5_HUMAN			4	1397	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	344					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1030C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078044	0.94000	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93388	0.6749	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	344;344	P41594-2;P41594	.;GRM5_HUMAN	F	344	ENSP00000402912:L344F;ENSP00000405690:L344F;ENSP00000305905:L344F;ENSP00000306138:L344F;ENSP00000376975:L344F	.	L	-	1	0	GRM5	88026101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CTC		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		65	304	0	0	0	1	0	65	304					A	88386453	G	A	88386453	3	1	79	1	0	0	0	0	1	0	0	0	6830	971	34	2	2636	2	GRM5	11	88386453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85389	88386453	46620063	12526	22843											
GRM5	2915	broad.mit.edu	37	chr11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggacctgaatggctacaGaactggagccaggcccaatg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000305447.4	-	1	607	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	153					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATGGCTACAGAACTGGAGCC	0.502																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(457-459)tCt>tAt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						58	54	55					11																	88780583		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780583G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.458C>A	11.37:g.88780583G>T	ENSP00000306138:p.Ser153Tyr					GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y	p.S153Y			P41594	GRM5_HUMAN			2	825	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	153					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.458C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341825	0.81911	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.93017	0.6437	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	153;153;153	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Y	153	ENSP00000402912:S153Y;ENSP00000405690:S153Y;ENSP00000305905:S153Y;ENSP00000306138:S153Y;ENSP00000376975:S153Y;ENSP00000376972:S153Y	.	S	-	2	0	GRM5	88420231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.514000	0.84764	0.563000	0.77884	TCT		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		29	284	1	0	3.65163e-15	1	3.98403e-15	29	284					T	88780583	G	T	88780583	3	4	79	1	0	0	0	0	1	0	0	0	6830	942	33	3	3216	3	GRM5	11	88780583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394130	88780583	46225933	12527	22844											
TYR	7299	broad.mit.edu	37	chr11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcagctgatgtagaaTtttgcctgagtttgacccaa	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	320					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGATGTAGAATTTTGCCTGAG	0.438																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(958-960)Ttt>Gtt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						118	116	116					11																	88924508		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924508T>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.958T>G	11.37:g.88924508T>G	ENSP00000263321:p.Phe320Val					TYR_ENST00000526139.1_3'UTR	p.F320V	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1460	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	320					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.958T>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147879	0.37923	.	.	ENSG00000077498	ENST00000263321	D	0.97232	-4.3	5.37	3.02	0.34903	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.549024	0.22235	N	0.062768	D	0.95825	0.8641	M	0.88181	2.935	0.33538	D	0.594502	B	0.32653	0.379	B	0.31946	0.138	D	0.93974	0.7252	9	.	.	.	.	4.4972	0.11842	0.1436:0.1499:0.0:0.7065	.	320	P14679	TYRO_HUMAN	V	320	ENSP00000263321:F320V	.	F	+	1	0	TYR	88564156	1.000000	0.71417	0.826000	0.32828	0.966000	0.64601	3.802000	0.55553	0.348000	0.23949	0.533000	0.62120	TTT		0.438	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		39	789	0	0	0	1	0	39	789					G	88924508	T	G	88924508	3	3	79	1	0	0	0	0	1	0	0	0	16867	1493	52	4	964	4	TYR	11	88924508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143925	88924508	46082008	12528	22845											
TYR	7299	broad.mit.edu	37	chr11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgccaatttcagctttaGaaatacactggaaggtaatc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	341					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCAGCTTTAGAAATACACTG	0.368																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1021-1023)aGa>aTa		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						93	95	94					11																	88924572		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924572G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1022G>T	11.37:g.88924572G>T	ENSP00000263321:p.Arg341Ile					TYR_ENST00000526139.1_3'UTR	p.R341I	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1524	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	341					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1022G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383941	0.82792	.	.	ENSG00000077498	ENST00000263321	D	0.97378	-4.36	5.59	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.045357	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	9	.	.	.	.	14.4613	0.67450	0.0705:0.0:0.9294:0.0	.	341	P14679	TYRO_HUMAN	I	341	ENSP00000263321:R341I	.	R	+	2	0	TYR	88564220	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.273000	0.95719	1.370000	0.46153	0.655000	0.94253	AGA		0.368	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		139	570	1	0	2.78246e-50	1	3.44754e-50	139	570					T	88924572	G	T	88924572	3	4	79	1	0	0	0	0	1	0	0	0	16867	942	33	3	1028	3	TYR	11	88924572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	88924572	46081944	12529	22846											
TYR	7299	broad.mit.edu	37	chr11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggctccgaaggcaccGtcctcttcaagaagtttatc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGAAGGCACCGTCCTCTTCAA	0.383																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM041480	TYR	M		c.(1213-1215)cGt>cAt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						65	66	65					11																	89017970		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89017970G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1214G>A	11.37:g.89017970G>A	ENSP00000263321:p.Arg405His						p.R405H	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			4	1716	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	405		R -> L (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1214G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	TYR	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT		0.383	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		61	260	0	0	0	1	0	61	260					A	89017970	G	A	89017970	3	1	79	1	0	0	0	0	1	0	0	0	16867	1145	40	1	1228	1	TYR	11	89017970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93398	89017970	45988546	12530	22847											
TYR	7299	broad.mit.edu	37	chr11	89028501	89028501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcctcatggagaaagaGgattaccacagcttgtatca	8	11	2	2	rs563119570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	ENST00000263321.5	+	5	2059	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	519					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGAGAAAGAGGATTACCACA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17684	0.001		0.0	False		,,,				2504	0.0					ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1555-1557)gaG>gaA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						13	15	14					11																	89028501		2143	4217	6360	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028501G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1557G>A	11.37:g.89028501G>A							p.E519E	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			5	2059	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	519					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.1557G>A	CCDS8284.1																																																																																				0.488	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		23	141	0	0	0	1	0	23	141					A	89028501	G	A	89028501	2	1	79	1	0	0	0	0	0	0	0	1	16867	991	35	2		2	TYR	11	89028501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10531	89028501	45978015	12531	22848											
NOX4	50507	broad.mit.edu	37	chr11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaatgcagatacactgGgacaatgtagagtaatatac	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000263317.4	-	11	1269	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000535633.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	344	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|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)			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)				AGATACACTGGGACAATGTAG	0.303																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(958-960)cCc>cTc		NADPH oxidase 4							86	87	86					11																	89133228		2201	4298	6499	SO:0001583	missense	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.chr11:89133228G>A	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.1031C>T	11.37:g.89133228G>A	ENSP00000263317:p.Pro344Leu					NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000263317.4_Missense_Mutation_p.P344L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L	p.P320L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			11	1269	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	344			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.959C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228728	0.79576	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.994;0.997	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.971;0.968	T	0.35798	-0.9774	9	.	.	.	-11.8467	18.1413	0.89641	0.0:0.0:1.0:0.0	.	320;178;319;344;344	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	320;320;320;344;344;320;320;320;178;319;365	ENSP00000412446:P320L;ENSP00000440172:P320L;ENSP00000344747:P320L;ENSP00000436892:P344L;ENSP00000263317:P344L;ENSP00000434924:P320L;ENSP00000433797:P320L;ENSP00000439373:P320L;ENSP00000436093:P178L;ENSP00000436970:P319L;ENSP00000405705:P365L	.	P	-	2	0	NOX4	88772876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.362000	0.80069	0.561000	0.74099	CCC		0.303	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		46	207	0	0	0	1	0	46	207					A	89133228	G	A	89133228	3	1	79	1	0	0	0	0	1	0	0	0	10600	1232	43	2	737	2	NOX4	11	89133228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104727	89133228	45873288	12532	22849											
FOLH1B	219595	broad.mit.edu	37	chr11	89424667	89424667	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgcttccaagttcagCgagagactccaggactttga	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89424667C>T	ENST00000532352.1	+	0	1830							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAAGTTCAGCGAGAGACTCC	0.279																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							59	60	60					11																	89424667		2201	4294	6495			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424667C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424667C>T										Q9HBA9	FOH1B_HUMAN			0	1830	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.279	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		27	187	0	0	0	1	0	27	187					T	89424667	C	T	89424667	1	4	79	0	1	0	0	0	0	0	0	0	6005	767	27	1		1	FOLH1B	11	89424667	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291439	89424667	45581849	12533	22850											
TRIM49	57093	broad.mit.edu	37	chr11	89537566	89537566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtctatggtgaccggGtctatgaagtagttcatgca	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	ENST00000329758.1	-	3	400	c.72C>T	c.(70-72)gaC>gaT	p.D24D	TRIM49_ENST00000532501.2_Silent_p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	24						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTGACCGGGTCTATGAAGT	0.468																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(70-72)gaC>gaT		tripartite motif containing 49							23	22	22					11																	89537566		2186	4270	6456	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89537566G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.72C>T	11.37:g.89537566G>A						TRIM49_ENST00000532501.2_Silent_p.D24D	p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			3	400	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	24					A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.72C>T	CCDS8287.1																																																																																				0.468	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		49	327	0	0	0	1	0	49	327					A	89537566	G	A	89537566	2	1	79	1	0	0	0	0	0	0	0	1	16577	1252	44	2		2	TRIM49	11	89537566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112899	89537566	45468950	12534	22851											
NAALAD2	10003	broad.mit.edu	37	chr11	89868815	89868815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatccgaaatgaaagcTgaaaacatcaaatcatttct	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000534061.1	+	2	401	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	57					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(169-171)gcT>gcC		N-acetylated alpha-linked acidic dipeptidase 2							110	111	111					11																	89868815		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868815T>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.171T>C	11.37:g.89868815T>C						NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A	p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			2	401	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	57					B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.171T>C	CCDS8288.1																																																																																				0.333	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		45	206	0	0	0	1	0	45	206					C	89868815	T	C	89868815	2	2	79	1	0	0	0	0	0	0	0	1	10169	1567	55	4		4	NAALAD2	11	89868815	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331249	89868815	45137701	12535	22852											
NAALAD2	10003	broad.mit.edu	37	chr11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctagattttcaaaacaTcataccttgaaccaccacca	3	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000534061.1	+	4	624	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	132					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(394-396)Tca>Gca		N-acetylated alpha-linked acidic dipeptidase 2							90	92	92					11																	89882186		2199	4296	6495	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882186T>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.394T>G	11.37:g.89882186T>G	ENSP00000432481:p.Ser132Ala					NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A	p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			4	624	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	132					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.394T>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	T	7.130	0.579740	0.13686	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.37	2.96	0.34315	.	0.199984	0.34906	N	0.003590	T	0.33760	0.0874	L	0.48877	1.53	0.53688	D	0.999974	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004	B;B;B;B;B	0.17098	0.004;0.011;0.001;0.014;0.017	T	0.07693	-1.0759	9	.	.	.	-7.6689	10.4162	0.44322	0.2791:0.0:0.0:0.7209	.	132;132;132;132;132	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	132;132;132;132;78	ENSP00000432481:S132A;ENSP00000320083:S132A;ENSP00000435249:S132A;ENSP00000365111:S132A;ENSP00000435670:S78A	.	S	+	1	0	NAALAD2	89521834	0.997000	0.39634	0.260000	0.24451	0.007000	0.05969	3.312000	0.51927	0.305000	0.22832	0.451000	0.29950	TCA		0.323	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		121	457	0	0	0	1	0	121	457					G	89882186	T	G	89882186	3	3	79	1	0	0	0	0	1	0	0	0	10169	1435	50	4	408	4	NAALAD2	11	89882186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13371	89882186	45124330	12536	22853											
NAALAD2	10003	broad.mit.edu	37	chr11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtactccccttctttAccaattagtgtataaactga	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	461	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1381-1383)tAc>tGc		N-acetylated alpha-linked acidic dipeptidase 2							103	113	110					11																	89903276		2199	4289	6488	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89903276A>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1382A>G	11.37:g.89903276A>G	ENSP00000432481:p.Tyr461Cys					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	p.Y461C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			13	1612	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	461			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1382A>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308005	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40476	1.03;1.03	5.78	4.64	0.57946	Peptidase M28 (1);	0.584174	0.17427	N	0.174618	T	0.59514	0.2199	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.57021	-0.7882	9	.	.	.	0.0033	12.3408	0.55093	0.8733:0.0:0.0:0.1267	.	461	Q9Y3Q0	NALD2_HUMAN	C	461;428	ENSP00000432481:Y461C;ENSP00000320083:Y428C	.	Y	+	2	0	NAALAD2	89542924	1.000000	0.71417	0.320000	0.25306	0.309000	0.27889	6.826000	0.75298	1.011000	0.39340	0.454000	0.30748	TAC		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		76	364	0	0	0	1	0	76	364					G	89903276	A	G	89903276	3	3	79	1	0	0	0	0	1	0	0	0	10169	391	14	4	1432	4	NAALAD2	11	89903276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21090	89903276	45103240	12537	22854											
FAT3	120114	broad.mit.edu	37	chr11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggactagtgttgcccAggtgactgcaacagacgcag	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000298047.6	+	1	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTTGCCCAGGTGACTGCA	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(535-537)cAg>cGg		FAT atypical cadherin 3							64	63	64					11																	92085814		1878	4123	6001	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085814A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.536A>G	11.37:g.92085814A>G	ENSP00000298047:p.Gln179Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R	p.Q179R			Q8TDW7	FAT3_HUMAN			1	553	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	179			Cadherin 2.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.536A>G		.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633542	0.03584	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.26	5.26	0.73747	.	.	.	.	.	T	0.30696	0.0773	N	0.16233	0.39	0.32415	N	0.550188	B	0.25105	0.118	B	0.26969	0.075	T	0.19778	-1.0295	9	0.06494	T	0.89	.	14.6575	0.68844	1.0:0.0:0.0:0.0	.	179	Q8TDW7-3	.	R	179;179;179;29	ENSP00000298047:Q179R;ENSP00000387040:Q179R;ENSP00000443786:Q179R;ENSP00000432586:Q29R	ENSP00000298047:Q179R	Q	+	2	0	FAT3	91725462	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.197000	0.65141	2.108000	0.64289	0.533000	0.62120	CAG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		52	227	0	0	0	1	0	52	227					G	92085814	A	G	92085814	3	3	79	1	0	0	0	0	1	0	0	0	5716	188	7	4	538	4	FAT3	11	92085814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2182538	92085814	42920702	12538	22855											
FAT3	120114	broad.mit.edu	37	chr11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccaaagacaaagggCggcctgtctctctgtcatct	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000298047.6	+	1	3066	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W|FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1017	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAAAGGGCGGCCTGTCTC	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3049-3051)Cgg>Tgg		FAT atypical cadherin 3							87	88	88					11																	92088327		1940	4144	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088327C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3049C>T	11.37:g.92088327C>T	ENSP00000298047:p.Arg1017Trp	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W	p.R1017W			Q8TDW7	FAT3_HUMAN			1	3066	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1017			Cadherin 9.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3049C>T		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738915	0.49045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	4.9	0.64082	.	.	.	.	.	T	0.60379	0.2264	L	0.46670	1.46	0.35678	D	0.813842	D	0.89917	1.0	D	0.70935	0.971	T	0.70737	-0.4790	9	0.62326	D	0.03	.	13.1108	0.59273	0.2917:0.7083:0.0:0.0	.	1017	Q8TDW7-3	.	W	1017;1017;1017;867	ENSP00000298047:R1017W;ENSP00000387040:R1017W;ENSP00000443786:R1017W;ENSP00000432586:R867W	ENSP00000298047:R1017W	R	+	1	2	FAT3	91727975	0.951000	0.32395	1.000000	0.80357	1.000000	0.99986	1.969000	0.40510	1.452000	0.47756	0.655000	0.94253	CGG		0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	175	0	0	0	1	0	9	175					T	92088327	C	T	92088327	3	4	79	1	0	0	0	0	1	0	0	0	5716	759	27	1	3051	1	FAT3	11	92088327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2513	92088327	42918189	12539	22856											
FAT3	120114	broad.mit.edu	37	chr11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacaggattacaagtggaAatcctcagaatttttttgcc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000298047.6	+	2	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D	FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1191	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAAGTGGAAATCCTCAGAA	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3571-3573)Aat>Gat		FAT atypical cadherin 3							43	43	43					11																	92258078		1843	4098	5941	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258078A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3571A>G	11.37:g.92258078A>G	ENSP00000298047:p.Asn1191Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D	p.N1191D			Q8TDW7	FAT3_HUMAN			2	3588	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1191			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3571A>G		.	.	.	.	.	.	.	.	.	.	A	26.8	4.774069	0.90108	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.53	5.53	0.82687	.	.	.	.	.	T	0.63367	0.2505	L	0.49513	1.565	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.62732	-0.6792	9	0.44086	T	0.13	.	15.6674	0.77242	1.0:0.0:0.0:0.0	.	1191	Q8TDW7-3	.	D	1191;1191;1191;1041	ENSP00000298047:N1191D;ENSP00000387040:N1191D;ENSP00000443786:N1191D;ENSP00000432586:N1041D	ENSP00000298047:N1191D	N	+	1	0	FAT3	91897726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.112000	0.64535	0.455000	0.32223	AAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		39	174	0	0	0	1	0	39	174					G	92258078	A	G	92258078	3	3	79	1	0	0	0	0	1	0	0	0	5716	14	1	4	3577	4	FAT3	11	92258078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169751	92258078	42748438	12540	22857											
FAT3	120114	broad.mit.edu	37	chr11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggaatggcttccaatgCtacagtcaatattcagattg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000298047.6	+	9	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1753	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCCAATGCTACAGTCAAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5257-5259)gCt>gAt		FAT atypical cadherin 3							64	62	62					11																	92531437		1936	4128	6064	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531437C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5258C>A	11.37:g.92531437C>A	ENSP00000298047:p.Ala1753Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D	p.A1753D			Q8TDW7	FAT3_HUMAN			9	5275	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1753			Cadherin 15.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5258C>A		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789713	0.70337	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.93	3.93	0.45458	.	.	.	.	.	T	0.69753	0.3146	H	0.94222	3.51	0.80722	D	1	P	0.51147	0.942	P	0.48795	0.59	T	0.77178	-0.2683	9	0.72032	D	0.01	.	12.0978	0.53765	0.0:0.894:0.0:0.106	.	1753	Q8TDW7-3	.	D	1753;1753;1603	ENSP00000298047:A1753D;ENSP00000387040:A1753D;ENSP00000432586:A1603D	ENSP00000298047:A1753D	A	+	2	0	FAT3	92171085	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	2.661000	0.46758	0.711000	0.32018	0.591000	0.81541	GCT		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	227	1	0	3.07112e-06	1	3.16074e-06	10	227					A	92531437	C	A	92531437	3	1	79	1	0	0	0	0	1	0	0	0	5716	797	28	3	5292	3	FAT3	11	92531437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273359	92531437	42475079	12541	22858											
FAT3	120114	broad.mit.edu	37	chr11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcaatgactttgccaagGatcgattcctcatagacagc	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000298047.6	+	9	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2542	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGCCAAGGATCGATTCCT	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7624-7626)Gat>Aat		FAT atypical cadherin 3							48	48	48					11																	92533803		2061	4203	6264	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533803G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7624G>A	11.37:g.92533803G>A	ENSP00000298047:p.Asp2542Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N	p.D2542N			Q8TDW7	FAT3_HUMAN			9	7641	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2542			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7624G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.981542	0.74474	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.95	5.04	0.67666	.	.	.	.	.	T	0.44159	0.1280	L	0.33485	1.01	0.80722	D	1	B	0.29766	0.256	B	0.25140	0.058	T	0.37911	-0.9685	9	0.39692	T	0.17	.	10.5916	0.45312	0.0684:0.1337:0.7978:0.0	.	2542	Q8TDW7-3	.	N	2542;2542;2392	ENSP00000298047:D2542N;ENSP00000387040:D2542N;ENSP00000432586:D2392N	ENSP00000298047:D2542N	D	+	1	0	FAT3	92173451	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	1.511000	0.48818	0.655000	0.94253	GAT		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		29	107	0	0	0	1	0	29	107					A	92533803	G	A	92533803	3	1	79	1	0	0	0	0	1	0	0	0	5716	1174	41	2	7658	2	FAT3	11	92533803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	92533803	42472713	12542	22859											
FAT3	120114	broad.mit.edu	37	chr11	92534060	92534060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttcaagccatagatccCgatgatggagcaaattcaag	9	9	2	2	rs372331075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20023	0.001		0.0	False		,,,				2504	0.0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7879-7881)ccC>ccT		FAT atypical cadherin 3		C		0,3886		0,0,1943	41	40	41		7881	-8.9	1	11		41	3,8291		0,3,4144	no	coding-synonymous	FAT3	NM_001008781.2		0,3,6087	TT,TC,CC		0.0362,0.0,0.0246		2627/4558	92534060	3,12177	1943	4147	6090	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534060C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7881C>T	11.37:g.92534060C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.P2627P|FAT3_ENST00000525166.1_Silent_p.P2477P	p.P2627P			Q8TDW7	FAT3_HUMAN			9	7898	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2627			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7881C>T																																																																																					0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	84	0	0	0	1	0	16	84					T	92534060	C	T	92534060	2	4	79	1	0	0	0	0	0	0	0	1	5716	639	23	1		1	FAT3	11	92534060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	92534060	42472456	12543	22860											
FAT3	120114	broad.mit.edu	37	chr11	92534276	92534276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctatatccacgtcttGccccctgaaacgttcttgcc	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000298047.6	+	9	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L	FAT3_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2699	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCACGTCTTGCCCCCTGAAA	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8095-8097)ttG>ttA		FAT atypical cadherin 3							70	66	67					11																	92534276		1960	4149	6109	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534276G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8097G>A	11.37:g.92534276G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.L2699L|FAT3_ENST00000525166.1_Silent_p.L2549L	p.L2699L			Q8TDW7	FAT3_HUMAN			9	8114	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2699			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8097G>A																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		28	165	0	0	0	1	0	28	165					A	92534276	G	A	92534276	2	1	79	1	0	0	0	0	0	0	0	1	5716	1310	46	2		2	FAT3	11	92534276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	92534276	42472240	12544	22861											
FAT3	120114	broad.mit.edu	37	chr11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttgccccctgaaacgTtcttgccatcattcacccag	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000298047.6	+	9	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V	FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2704	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAAACGTTCTTGCCATC	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8110-8112)Ttc>Gtc		FAT atypical cadherin 3							72	68	70					11																	92534289		1964	4151	6115	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534289T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8110T>G	11.37:g.92534289T>G	ENSP00000298047:p.Phe2704Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V|FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V	p.F2704V			Q8TDW7	FAT3_HUMAN			9	8127	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2704			Cadherin 24.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8110T>G		.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115509	0.06881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	-2.07	0.07276	.	.	.	.	.	T	0.31009	0.0783	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15952	T	0.53	.	3.0455	0.06152	0.1513:0.4275:0.2181:0.2031	.	2704	Q8TDW7-3	.	V	2704;2704;2554	ENSP00000298047:F2704V;ENSP00000387040:F2704V;ENSP00000432586:F2554V	ENSP00000298047:F2704V	F	+	1	0	FAT3	92173937	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.105000	0.15333	-0.283000	0.09115	-0.326000	0.08463	TTC		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	172	0	0	0	1	0	32	172					G	92534289	T	G	92534289	3	3	79	1	0	0	0	0	1	0	0	0	5716	1725	60	4	8144	4	FAT3	11	92534289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	92534289	42472227	12545	22862											
FAT3	120114	broad.mit.edu	37	chr11	92577129	92577129	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcaaaccccagcaagtTtctcacacttacatccgcgt	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000298047.6	+	18	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000409404.2_Silent_p.V3532V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3532	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGCAAGTTTCTCACACTT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10594-10596)gtT>gtG		FAT atypical cadherin 3							169	164	166					11																	92577129		1920	4135	6055	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577129T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10596T>G	11.37:g.92577129T>G		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.V3532V|FAT3_ENST00000525166.1_Silent_p.V3382V	p.V3532V			Q8TDW7	FAT3_HUMAN			18	10613	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3532			Cadherin 32.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10596T>G																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		183	804	0	0	0	1	0	183	804					G	92577129	T	G	92577129	2	3	79	1	0	0	0	0	0	0	0	1	5716	1828	64	4		4	FAT3	11	92577129	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42840	92577129	42429387	12546	22863											
MTNR1B	4544	broad.mit.edu	37	chr11	92702921	92702921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggctccttcgccaactgCtgcgaggcgggcgggtgggc	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	10					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(28-30)tgC>tgT		melatonin receptor 1B	Ramelteon(DB00980)						7	8	8					11																	92702921		1931	3852	5783	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92702921C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.30C>T	11.37:g.92702921C>T							p.C10C	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	36	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	10						Silent	SNP	ENST00000257068.2	37	c.30C>T	CCDS8290.1																																																																																				0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			32	112	0	0	0	1	0	32	112					T	92702921	C	T	92702921	2	4	79	1	0	0	0	0	0	0	0	1	9993	805	28	2		2	MTNR1B	11	92702921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125792	92702921	42303595	12547	22864											
SLC36A4	120103	broad.mit.edu	37	chr11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatatccttaggtcaacaCttcttctctcacaagggttt	5	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000326402.4	-	7	747	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	206					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGGTCAACACTTCTTCTCTC	0.343																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(616-618)aGt>aAt		solute carrier family 36 (proton/amino acid symporter), member 4							127	126	126					11																	92901261		2201	4296	6497	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901261C>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.617G>A	11.37:g.92901261C>T	ENSP00000317382:p.Ser206Asn					SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	p.S206N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			7	747	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	206					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.617G>A	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052602	0.36181	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02301	4.35;4.35;4.35	5.47	2.57	0.30868	.	0.178651	0.51477	N	0.000097	T	0.01940	0.0061	N	0.24115	0.695	0.24548	N	0.994039	B	0.15141	0.012	B	0.25614	0.062	T	0.46693	-0.9173	10	0.28530	T	0.3	-9.6457	8.2408	0.31658	0.0:0.5642:0.2946:0.1412	.	206	Q6YBV0	S36A4_HUMAN	N	206;71;100	ENSP00000317382:S206N;ENSP00000436570:S71N;ENSP00000432061:S100N	ENSP00000317382:S206N	S	-	2	0	SLC36A4	92540909	0.323000	0.24643	0.996000	0.52242	0.996000	0.88848	0.337000	0.19841	0.275000	0.22094	0.650000	0.86243	AGT		0.343	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			55	297	0	0	0	1	0	55	297					T	92901261	C	T	92901261	3	4	79	1	0	0	0	0	1	0	0	0	14646	565	20	2	917	2	SLC36A4	11	92901261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198340	92901261	42105255	12548	22865											
SLC36A4	120103	broad.mit.edu	37	chr11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttcctttaagaaggtGcataagagtttgtacaaatc	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000326402.4	-	3	329	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	67					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAAGAAGGTGCATAAGAGTT	0.313																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(199-201)Cac>Tac		solute carrier family 36 (proton/amino acid symporter), member 4							143	149	147					11																	92917667		2201	4298	6499	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92917667G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.199C>T	11.37:g.92917667G>A	ENSP00000317382:p.His67Tyr					SLC36A4_ENST00000529184.1_5'UTR	p.H67Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			3	329	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	67					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.199C>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390349	0.82902	.	.	ENSG00000180773	ENST00000326402	T	0.02472	4.28	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	10	0.87932	D	0	-18.8948	20.2544	0.98414	0.0:0.0:1.0:0.0	.	67	Q6YBV0	S36A4_HUMAN	Y	67	ENSP00000317382:H67Y	ENSP00000317382:H67Y	H	-	1	0	SLC36A4	92557315	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CAC		0.313	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			142	533	0	0	0	1	0	142	533					A	92917667	G	A	92917667	3	1	79	1	0	0	0	0	1	0	0	0	14646	1319	46	2	1351	2	SLC36A4	11	92917667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16406	92917667	42088849	12549	22866											
TAF1D	79101	broad.mit.edu	37	chr11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgggaagccagatcctCtgcttctaaattgtttcttc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	129					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(385-387)aGa>aTa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							120	125	123					11																	93471348		2201	4298	6499	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471348C>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.386G>T	11.37:g.93471348C>A	ENSP00000410409:p.Arg129Ile						p.R129I	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	1036	-			129					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.386G>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596396	0.28445	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	-2.84	0.05751	.	0.438594	0.22677	N	0.056993	T	0.24774	0.0601	L	0.38175	1.15	0.09310	N	0.999996	P	0.47302	0.893	B	0.40825	0.341	T	0.26538	-1.0100	9	0.72032	D	0.01	-5.3265	10.8645	0.46847	0.0:0.501:0.0:0.499	.	129	Q9H5J8	TAF1D_HUMAN	I	129	.	ENSP00000314971:R129I	R	-	2	0	TAF1D	93110996	0.082000	0.21442	0.002000	0.10522	0.002000	0.02628	-0.278000	0.08490	-0.669000	0.05289	-1.934000	0.00508	AGA		0.398	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		125	616	1	0	2.12867e-53	1	2.65328e-53	125	616					A	93471348	C	A	93471348	3	1	79	1	0	0	0	0	1	0	0	0	15574	913	32	3	466	3	TAF1D	11	93471348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553681	93471348	41535168	12550	22867											
C11orf54	28970	broad.mit.edu	37	chr11	93487188	93487188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtccatttcagactctCgggttcaattctgaggtcag	11	10	5	2	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000331239.4	+	5	494	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000528288.1_Silent_p.L105L|C11orf54_ENST00000354421.3_Silent_p.L105L			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(313-315)ctC>ctT		chromosome 11 open reading frame 54							83	94	90					11																	93487188		2195	4297	6492	SO:0001819	synonymous_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487188C>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.315C>T	11.37:g.93487188C>T						C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000331239.4_Silent_p.L105L	p.L105L	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			5	550	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	105					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	37	c.315C>T																																																																																					0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		108	532	0	0	0	1	0	108	532					T	93487188	C	T	93487188	2	4	79	1	0	0	0	0	0	0	0	1	1654	871	31	1		1	C11orf54	11	93487188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	93487188	41519328	12551	22868											
MED17	9440	broad.mit.edu	37	chr11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taataaagaatacagatctcGatctggataaaaagatacct	6	6	2	3	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(691-693)Gat>Aat		mediator complex subunit 17		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	71	73	73		691	5.5	1	11	dbSNP_134	73	0,8592		0,0,4296	no	missense	MED17	NM_004268.4	23	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	231/652	93526947	1,12993	2201	4296	6497	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor 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.chr11:93526947G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.691G>A	11.37:g.93526947G>A	ENSP00000251871:p.Asp231Asn						p.D231N	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			4	978	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	231					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.691G>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652685	0.88056	2.27E-4	0.0	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.54675	0.56;0.56	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.70046	0.3179	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65092	-0.6252	10	0.28530	T	0.3	-24.2179	19.3299	0.94281	0.0:0.0:1.0:0.0	.	231	Q9NVC6	MED17_HUMAN	N	231;201;123	ENSP00000251871:D231N;ENSP00000433626:D123N	ENSP00000251871:D231N	D	+	1	0	MED17	93166595	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.814000	0.86154	2.591000	0.87537	0.655000	0.94253	GAT		0.303	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		40	173	0	0	0	1	0	40	173					A	93526947	G	A	93526947	3	1	79	1	0	0	0	0	1	0	0	0	9476	1058	37	1	705	1	MED17	11	93526947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39759	93526947	41479569	12552	22869											
MED17	9440	broad.mit.edu	37	chr11	93529577	93529577	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctttttataaataggCttgcagttatctatttcttt	4	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.e7-1		mediator complex subunit 17							142	144	144					11																	93529577		2201	4298	6499	SO:0001630	splice_region_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor 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.chr11:93529577C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1013-1C>T	11.37:g.93529577C>T						MED17_ENST00000533367.1_3'UTR	p.S338_splice	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			7	1301	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	338					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Splice_Site	SNP	ENST00000251871.3	37	c.1012_splice	CCDS8295.1																																																																																				0.333	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	Silent	69	380	0	0	0	1	0	69	380					T	93529577	C	T	93529577	5	4	79	1	0	0	0	0	0	0	1	0	9476	811	28	2	1040	2	MED17	11	93529577	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2630	93529577	41476939	12553	22870											
MED17	9440	broad.mit.edu	37	chr11	93540697	93540697	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaaggtccattcaactgCaattgaatattggagttgag	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93540697C>T	ENST00000251871.3	+	10	1767	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	494					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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTCAACTGCAATTGAATAT	0.323																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1480-1482)Caa>Taa		mediator complex subunit 17							116	113	114					11																	93540697		2201	4298	6499	SO:0001587	stop_gained	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor 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.chr11:93540697C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1480C>T	11.37:g.93540697C>T	ENSP00000251871:p.Gln494*					MED17_ENST00000533367.1_3'UTR	p.Q494*	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			10	1767	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	494					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Nonsense_Mutation	SNP	ENST00000251871.3	37	c.1480C>T	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	41	8.783231	0.98952	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.875	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	494;464	.	ENSP00000251871:Q494X	Q	+	1	0	MED17	93180345	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.617000	0.83032	2.873000	0.98535	0.563000	0.77884	CAA		0.323	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		9	311	0	0	0	1	0	9	311					T	93540697	C	T	93540697	4	4	79	1	0	0	0	0	0	1	0	0	9476	711	25	2	1518	2	MED17	11	93540697	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11120	93540697	41465819	12554	22871											
HEPHL1	341208	broad.mit.edu	37	chr11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttgtgaaaccaggggCgcatgttaaaccaggtgaaa	13	6	0	2	rs188507582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	508	Plastocyanin-like 3.				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)			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)				AAACCAGGGGCGCATGTTAAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20863	0.0		0.001	False		,,,				2504	0.0					ENST00000315765.9																			0				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						c.(1522-1524)gCg>gTg		hephaestin-like 1							65	60	62					11																	93808358		1947	4144	6091	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93808358C>T	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.1523C>T	11.37:g.93808358C>T	ENSP00000313699:p.Ala508Val						p.A508V	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			9	1531	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	508			Plastocyanin-like 3.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1523C>T	CCDS44710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.80	2.642441	0.47153	.	.	ENSG00000181333	ENST00000315765	D	0.99470	-5.96	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.112238	0.64402	D	0.000014	D	0.98337	0.9448	L	0.56769	1.78	0.46954	D	0.999266	P	0.35872	0.525	B	0.32583	0.148	D	0.99968	1.1900	10	0.19590	T	0.45	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	508	Q6MZM0	HPHL1_HUMAN	V	508	ENSP00000313699:A508V	ENSP00000313699:A508V	A	+	2	0	HEPHL1	93448006	1.000000	0.71417	0.959000	0.39883	0.802000	0.45316	5.618000	0.67722	2.548000	0.85928	0.650000	0.86243	GCG		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		20	96	0	0	0	1	0	20	96					T	93808358	C	T	93808358	3	4	79	1	0	0	0	0	1	0	0	0	7085	768	27	1	1557	1	HEPHL1	11	93808358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267661	93808358	41198158	12555	22872											
HEPHL1	341208	broad.mit.edu	37	chr11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgatgagaatctgagcaGatattttgatgaaaacattc	8	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	592	Plastocyanin-like 4.				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)			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)				AATCTGAGCAGATATTTTGAT	0.358																																						ENST00000315765.9																			0				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						c.(1774-1776)aGa>aAa		hephaestin-like 1							84	78	80					11																	93815642		1832	4086	5918	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93815642G>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.1775G>A	11.37:g.93815642G>A	ENSP00000313699:p.Arg592Lys						p.R592K	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			10	1783	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	592			Plastocyanin-like 4.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1775G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967790	0.53507	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.59	4.49	0.54785	Cupredoxin (2);	0.400573	0.30036	N	0.010571	D	0.98292	0.9434	L	0.29908	0.895	0.23563	N	0.997405	B	0.14438	0.01	B	0.17098	0.017	D	0.95455	0.8538	10	0.54805	T	0.06	.	11.0203	0.47713	0.0777:0.0:0.79:0.1323	.	592	Q6MZM0	HPHL1_HUMAN	K	592	ENSP00000313699:R592K	ENSP00000313699:R592K	R	+	2	0	HEPHL1	93455290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.150000	0.64869	2.628000	0.89032	0.655000	0.94253	AGA		0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		25	116	0	0	0	1	0	25	116					A	93815642	G	A	93815642	3	1	79	1	0	0	0	0	1	0	0	0	7085	942	33	2	1813	2	HEPHL1	11	93815642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7284	93815642	41190874	12556	22873											
HEPHL1	341208	broad.mit.edu	37	chr11	93826709	93826709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgaaaattggattggCtctcagtacaagaaggtggt	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	779	Plastocyanin-like 5.				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)			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)				ATTGGATTGGCTCTCAGTACA	0.433																																						ENST00000315765.9																			0				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						c.(2335-2337)ggC>ggT		hephaestin-like 1							190	184	186					11																	93826709		1870	4116	5986	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93826709C>T	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.2337C>T	11.37:g.93826709C>T							p.G779G	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			13	2345	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	779			Plastocyanin-like 5.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2337C>T	CCDS44710.1																																																																																				0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		119	665	0	0	0	1	0	119	665					T	93826709	C	T	93826709	2	4	79	1	0	0	0	0	0	0	0	1	7085	784	28	2		2	HEPHL1	11	93826709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11067	93826709	41179807	12557	22874											
MRE11A	4361	broad.mit.edu	37	chr11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagttacttacctcctcatCgattttgtcttcgagggcat	7	10	2	0	rs564511708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	498					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACCTCCTCATCGATTTTGTCT	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17938	0.0		0.0	False		,,,				2504	0.0					ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1492-1494)Gat>Aat	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							155	148	150					11																	94192582		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94192582C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1492G>A	11.37:g.94192582C>T	ENSP00000325863:p.Asp498Asn					MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N|MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N	p.D498N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			13	1714	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	498					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1492G>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273580	0.59649	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75821	-0.97;-0.97;-0.95;-0.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.61703	1.905	0.80722	D	1	B;B;B	0.21753	0.06;0.058;0.06	B;B;B	0.19148	0.016;0.024;0.022	T	0.67608	-0.5627	10	0.30854	T	0.27	-27.8191	20.0493	0.97618	0.0:1.0:0.0:0.0	.	501;498;498	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	N	498;501;498;498	ENSP00000325863:D498N;ENSP00000385614:D501N;ENSP00000326094:D498N;ENSP00000376933:D498N	ENSP00000325863:D498N	D	-	1	0	MRE11A	93832230	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	7.695000	0.84257	2.745000	0.94114	0.491000	0.48974	GAT		0.358	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		60	309	0	0	0	1	0	60	309					T	94192582	C	T	94192582	3	4	79	1	0	0	0	0	1	0	0	0	9800	884	31	1	666	1	MRE11A	11	94192582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365873	94192582	40813934	12558	22875											
ANKRD49	54851	broad.mit.edu	37	chr11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgcccaaacaaaaggcCtcttgacccccttgcatctt	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(520-522)Ctc>Ttc		ankyrin repeat domain 49							81	72	75					11																	94231498		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231498C>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.520C>T	11.37:g.94231498C>T	ENSP00000440396:p.Leu174Phe					ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F	p.L174F	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	1017	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	174					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.520C>T	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	T;T	0.70631	-0.5;-0.5	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.341802	0.30695	N	0.009080	T	0.75766	0.3894	M	0.63428	1.95	0.31341	N	0.683661	D	0.61697	0.99	P	0.54759	0.76	T	0.80134	-0.1509	10	0.87932	D	0	-3.3387	9.9303	0.41519	0.0:0.8141:0.0:0.1859	.	174	Q8WVL7	ANR49_HUMAN	F	174	ENSP00000440396:L174F;ENSP00000303518:L174F	ENSP00000303518:L174F	L	+	1	0	ANKRD49	93871146	0.980000	0.34600	0.974000	0.42286	0.923000	0.55619	2.210000	0.42816	2.780000	0.95670	0.655000	0.94253	CTC		0.493	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		58	271	0	0	0	1	0	58	271					T	94231498	C	T	94231498	3	4	79	1	0	0	0	0	1	0	0	0	675	681	24	2	526	2	ANKRD49	11	94231498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38916	94231498	40775018	12559	22876											
FUT4	2526	broad.mit.edu	37	chr11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgagaactcgcagcacctgGattatatcaccgagaagctc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	420					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1258-1260)Gat>Tat		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							36	34	35					11																	94278557		2201	4297	6498	SO:0001583	missense	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278557G>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1258G>T	11.37:g.94278557G>T	ENSP00000351602:p.Asp420Tyr					RP11-867G2.8_ENST00000536540.1_RNA	p.D420Y	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1541	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	420					B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	c.1258G>T	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650391	0.87958	.	.	ENSG00000196371	ENST00000358752	T	0.69926	-0.44	4.74	4.74	0.60224	.	0.000000	0.85682	U	0.000000	D	0.85708	0.5759	M	0.94101	3.495	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89439	0.3722	10	0.87932	D	0	.	14.5742	0.68235	0.0:0.0:0.8535:0.1465	.	420	P22083	FUT4_HUMAN	Y	420	ENSP00000351602:D420Y	ENSP00000351602:D420Y	D	+	1	0	FUT4	93918205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.339000	0.79563	0.561000	0.74099	GAT		0.667	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		51	193	1	0	6.03219e-31	1	7.08931e-31	51	193					T	94278557	G	T	94278557	3	4	79	1	0	0	0	0	1	0	0	0	6133	1174	41	3	1260	3	FUT4	11	94278557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47059	94278557	40727959	12560	22877											
PIWIL4	143689	broad.mit.edu	37	chr11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtttgtcttcttcaggttCcagtggaatacctgtgaaac	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	101					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTCAGGTTCCAGTGGAATA	0.328																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(301-303)tCc>tAc		piwi-like RNA-mediated gene silencing 4							55	53	54					11																	94310447		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94310447C>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.302C>A	11.37:g.94310447C>A	ENSP00000299001:p.Ser101Tyr					RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.S101Y	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			4	513	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	101					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.302C>A	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884465	0.72410	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.15487	2.42;2.42	5.28	5.28	0.74379	.	0.194570	0.33938	N	0.004404	T	0.36744	0.0978	M	0.79475	2.455	0.80722	D	1	D	0.52996	0.957	P	0.52627	0.704	T	0.19976	-1.0289	10	0.87932	D	0	-21.238	17.8577	0.88771	0.0:1.0:0.0:0.0	.	101	Q7Z3Z4	PIWL4_HUMAN	Y	101;32	ENSP00000299001:S101Y;ENSP00000440499:S32Y	ENSP00000299001:S101Y	S	+	2	0	PIWIL4	93950095	0.986000	0.35501	1.000000	0.80357	0.857000	0.48899	1.039000	0.30266	2.746000	0.94184	0.655000	0.94253	TCC		0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		34	227	1	0	2.68265e-12	1	2.87809e-12	34	227					A	94310447	C	A	94310447	3	1	79	1	0	0	0	0	1	0	0	0	12002	855	30	3	316	3	PIWIL4	11	94310447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31890	94310447	40696069	12561	22878											
AMOTL1	154810	broad.mit.edu	37	chr11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccacgtccgctcgctcaGcgagagaatcatgcagctgt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	262					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGCTCGCTCAGCGAGAGAATC	0.622																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(784-786)aGc>aTc		angiomotin like 1							41	46	44					11																	94533141		2031	4186	6217	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533141G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.785G>T	11.37:g.94533141G>T	ENSP00000387739:p.Ser262Ile					AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	p.S262I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	926	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	262					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.785G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839201	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.19938	2.11;2.11;2.11	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.56123	-0.8031	9	.	.	.	-15.7647	18.5608	0.91100	0.0:0.0:1.0:0.0	.	212;262	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	212;268;262;262	ENSP00000320968:S212I;ENSP00000323474:S262I;ENSP00000387739:S262I	.	S	+	2	0	AMOTL1	94172789	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	AGC		0.622	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		62	279	1	0	1.61742e-36	1	1.93684e-36	62	279					T	94533141	G	T	94533141	3	4	79	1	0	0	0	0	1	0	0	0	583	971	34	3	795	3	AMOTL1	11	94533141	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222694	94533141	40473375	12562	22879											
AMOTL1	154810	broad.mit.edu	37	chr11	94554837	94554837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctccacagcccccGcctgccgcctcccccagcca	9	23	0	0	rs368335501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000433060.2	+	4	1404	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	421					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACAGCCCCCGCCTGCCGCCT	0.647																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1261-1263)ccG>ccA		angiomotin like 1		G		2,4040		0,2,2019	32	37	36		1263	-4.8	0.2	11		36	1,8323		0,1,4161	no	coding-synonymous	AMOTL1	NM_130847.2		0,3,6180	AA,AG,GG		0.012,0.0495,0.0243		421/957	94554837	3,12363	2021	4162	6183	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554837G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1263G>A	11.37:g.94554837G>A						AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000317837.9_Intron	p.P421P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1404	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	421					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.1263G>A	CCDS44712.1																																																																																				0.647	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		43	182	0	0	0	1	0	43	182					A	94554837	G	A	94554837	2	1	79	1	0	0	0	0	0	0	0	1	583	1074	38	1		1	AMOTL1	11	94554837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21696	94554837	40451679	12563	22880											
AMOTL1	154810	broad.mit.edu	37	chr11	94602523	94602523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagactgacaagagtgcCgagctcttctggcccagcat	10	13	2	3	rs574065556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317829.8_Silent_p.A833A|AMOTL1_ENST00000317837.9_Silent_p.A470A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	883					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACAAGAGTGCCGAGCTCTTCT	0.652																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2647-2649)gcC>gcT		angiomotin like 1							34	44	41					11																	94602523		2170	4276	6446	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602523C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2649C>T	11.37:g.94602523C>T						AMOTL1_ENST00000317829.8_Silent_p.A833A|AMOTL1_ENST00000317837.9_Silent_p.A470A	p.A883A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			12	2790	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	883					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.2649C>T	CCDS44712.1																																																																																				0.652	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		11	84	0	0	0	1	0	11	84					T	94602523	C	T	94602523	2	4	79	1	0	0	0	0	0	0	0	1	583	639	23	1		1	AMOTL1	11	94602523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47686	94602523	40403993	12564	22881											
KDM4D	55693	broad.mit.edu	37	chr11	94731619	94731619	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccaagagctgagcacccaGaaggaagtccagttacccag	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	361					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1081-1083)caG>caA		lysine (K)-specific demethylase 4D							55	47	50					11																	94731619		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731619G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1083G>A	11.37:g.94731619G>A						KDM4D_ENST00000536741.1_Silent_p.Q361Q	p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1915	+			361					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1083G>A	CCDS8302.1																																																																																				0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		37	186	0	0	0	1	0	37	186					A	94731619	G	A	94731619	2	1	79	1	0	0	0	0	0	0	0	1	8161	933	33	2		2	KDM4D	11	94731619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129096	94731619	40274897	12565	22882											
KDM4D	55693	broad.mit.edu	37	chr11	94731922	94731922	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagaaactgagagcTcaggagctgaccctccagac	9	15	2	4	rs369415035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	462					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1384-1386)gcT>gcG		lysine (K)-specific demethylase 4D							44	48	46					11																	94731922		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731922T>G	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1386T>G	11.37:g.94731922T>G						KDM4D_ENST00000536741.1_Silent_p.A462A	p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2218	+			462					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1386T>G	CCDS8302.1																																																																																				0.607	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		87	315	0	0	0	1	0	87	315					G	94731922	T	G	94731922	2	3	79	1	0	0	0	0	0	0	0	1	8161	1538	54	4		4	KDM4D	11	94731922	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	303	94731922	40274594	12566	22883											
KDM4D	55693	broad.mit.edu	37	chr11	94732006	94732006	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcccagaacctgagccCctacctgaggatggggcttt	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94732006C>A	ENST00000335080.5	+	3	2302	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	KDM4D_ENST00000536741.1_Silent_p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	490					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTGAGCCCCTACCTGAGG	0.622																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1468-1470)ccC>ccA		lysine (K)-specific demethylase 4D							26	28	27					11																	94732006		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94732006C>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1470C>A	11.37:g.94732006C>A						KDM4D_ENST00000536741.1_Silent_p.P490P	p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2302	+			490					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1470C>A	CCDS8302.1																																																																																				0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		42	185	1	0	2.35958e-20	1	2.64308e-20	42	185					A	94732006	C	A	94732006	2	1	79	1	0	0	0	0	0	0	0	1	8161	610	22	3		3	KDM4D	11	94732006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	94732006	40274510	12567	22884											
KDM4DL	390245	broad.mit.edu	37	chr11	94759017	94759017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagggtggggcagtatcGccgcttggcaaacagtaaaa	14	8	0	1	rs568507965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94759017G>A	ENST00000450979.2	+	1	596	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	99					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGGCAGTATCGCCGCTTGGCA	0.488																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(295-297)cGc>cAc		lysine (K)-specific demethylase 4E							19	18	18					11																	94759017		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759017G>A	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.296G>A	11.37:g.94759017G>A	ENSP00000397239:p.Arg99His						p.R99H	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	596	+			99						Missense_Mutation	SNP	ENST00000450979.2	37	c.296G>A	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	g	4.232	0.041936	0.08196	.	.	ENSG00000235268	ENST00000450979	T	0.50001	0.76	2.18	0.246	0.15516	.	.	.	.	.	T	0.39279	0.1072	M	0.68593	2.085	0.28819	N	0.897821	B	0.29886	0.26	B	0.13407	0.009	T	0.31971	-0.9924	9	0.52906	T	0.07	-1.5164	6.3681	0.21465	0.2819:0.0:0.7181:0.0	.	99	B2RXH2	KD4DL_HUMAN	H	99	ENSP00000397239:R99H	ENSP00000397239:R99H	R	+	2	0	KDM4DL	94398665	0.594000	0.26849	0.022000	0.16811	0.008000	0.06430	3.686000	0.54685	0.070000	0.16634	-0.380000	0.06706	CGC		0.488	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		33	82	0	0	0	1	0	33	82					A	94759017	G	A	94759017	3	1	79	1	0	0	0	0	1	0	0	0	8162	1087	38	1	298	1	KDM4DL	11	94759017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27011	94759017	40247499	12568	22885											
KDM4DL	390245	broad.mit.edu	37	chr11	94759193	94759193	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taggacacctgggaacaattCtggacctgttggagcaggaa	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94759193C>A	ENST00000450979.2	+	1	772	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	158	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGGAACAATTCTGGACCTGTT	0.502																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(472-474)Ctg>Atg		lysine (K)-specific demethylase 4E							29	25	26					11																	94759193		692	1578	2270	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759193C>A	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.472C>A	11.37:g.94759193C>A	ENSP00000397239:p.Leu158Met						p.L158M	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	772	+			158			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.472C>A	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	9.457	1.092208	0.20471	.	.	ENSG00000235268	ENST00000450979	T	0.74421	-0.84	2.18	1.23	0.21249	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.	.	.	.	D	0.85957	0.5818	M	0.92923	3.36	0.28432	N	0.917216	D	0.71674	0.998	D	0.67725	0.953	T	0.75725	-0.3217	9	0.72032	D	0.01	-15.0965	6.1282	0.20192	0.0:0.8203:0.0:0.1797	.	158	B2RXH2	KD4DL_HUMAN	M	158	ENSP00000397239:L158M	ENSP00000397239:L158M	L	+	1	2	KDM4DL	94398841	0.002000	0.14202	0.421000	0.26609	0.346000	0.29079	-0.021000	0.12504	0.459000	0.27016	0.455000	0.32223	CTG		0.502	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		16	213	1	0	4.7546e-09	1	4.99022e-09	16	213					A	94759193	C	A	94759193	3	1	79	1	0	0	0	0	1	0	0	0	8162	912	32	3	474	3	KDM4DL	11	94759193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	94759193	40247323	12569	22886											
SESN3	143686	broad.mit.edu	37	chr11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatcatacatgcgttttgTagttctctcaggatagcagg	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000536441.1	-	9	1678	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	448					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)				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)		ATGCGTTTTGTAGTTCTCTCA	0.368																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(1342-1344)Aca>Gca		sestrin 3							166	155	159					11																	94908712		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94908712T>C	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.1342A>G	11.37:g.94908712T>C	ENSP00000441927:p.Thr448Ala					RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A	p.T448A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	9	1678	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	448					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1342A>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539931	0.45176	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.70219	-0.4932	10	0.72032	D	0.01	0.0717	15.2678	0.73675	0.0:0.0:0.0:1.0	.	309;448	B7Z7P9;P58005	.;SESN3_HUMAN	A	448;309	ENSP00000441927:T448A;ENSP00000278499:T309A	ENSP00000278499:T309A	T	-	1	0	SESN3	94548360	1.000000	0.71417	0.950000	0.38849	0.184000	0.23303	7.365000	0.79537	2.192000	0.70111	0.528000	0.53228	ACA		0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		70	322	0	0	0	1	0	70	322					C	94908712	T	C	94908712	3	2	79	1	0	0	0	0	1	0	0	0	14176	1638	57	4	144	4	SESN3	11	94908712	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	149519	94908712	40097804	12570	22887											
SESN3	143686	broad.mit.edu	37	chr11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaggggaccatccatgCgcaacatgtaaaactggctc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000536441.1	-	3	629	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|SESN3_ENST00000537480.1_5'Flank	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																																						ENST00000536441.1																			1	Substitution - Missense(1)	p.R98L(1)	lung(1)	endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(292-294)cGc>cAc		sestrin 3							202	176	185					11																	94924617		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94924617C>T	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>A	11.37:g.94924617C>T	ENSP00000441927:p.Arg98His					RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H	p.R98H	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	629	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	98					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.293G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530975	0.45073	.	.	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	0.43590	0.1254	L	0.43757	1.38	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.71414	0.899;0.973;0.93	T	0.03240	-1.1057	10	0.18710	T	0.47	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	H	98;20;98;98	ENSP00000441927:R98H;ENSP00000278499:R20H;ENSP00000376926:R98H;ENSP00000407008:R98H	ENSP00000278499:R20H	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		0.443	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		117	494	0	0	0	1	0	117	494					T	94924617	C	T	94924617	3	4	79	1	0	0	0	0	1	0	0	0	14176	768	27	1	1217	1	SESN3	11	94924617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15905	94924617	40081899	12571	22888											
SESN3	143686	broad.mit.edu	37	chr11	94924736	94924736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacaagaaagttagtAcgttcatccactgtgtttgc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000536441.1	-	3	510	c.174T>C	c.(172-174)cgT>cgC	p.R58R	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000393234.1_Silent_p.R58R|SESN3_ENST00000537480.1_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	58					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)				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)		GAAAGTTAGTACGTTCATCCA	0.383																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(172-174)cgT>cgC		sestrin 3							141	122	128					11																	94924736		2201	4298	6499	SO:0001819	synonymous_variant	143686				cell cycle arrest	nucleus		g.chr11:94924736A>G	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.174T>C	11.37:g.94924736A>G						RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000537480.1_5'UTR|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000393234.1_Silent_p.R58R	p.R58R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	510	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	58					B7Z7P9|Q96AD1	Silent	SNP	ENST00000536441.1	37	c.174T>C	CCDS8303.1																																																																																				0.383	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		61	279	0	0	0	1	0	61	279					G	94924736	A	G	94924736	2	3	79	1	0	0	0	0	0	0	0	1	14176	378	14	4		4	SESN3	11	94924736	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	94924736	40081780	12572	22889											
FAM76B	143684	broad.mit.edu	37	chr11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcttccttcctccttccGatcaaaagcacattgctgtt	4	14	3	0	rs374764840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W|FAM76B_ENST00000538047.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	114						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(340-342)Cgg>Tgg		family with sequence similarity 76, member B		G	TRP/ARG	0,4118		0,0,2059	148	144	145		340	6	1	11		145	1,8471		0,1,4235	no	missense	FAM76B	NM_144664.4	101	0,1,6294	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	114/340	95519306	1,12589	2059	4236	6295	SO:0001583	missense	143684							g.chr11:95519306G>A		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.340C>T	11.37:g.95519306G>A	ENSP00000351631:p.Arg114Trp					FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W	p.R114W	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			4	652	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	114					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.340C>T	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026245	0.93518	0.0	1.18E-4	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85294	0.1069	9	0.87932	D	0	-4.671	20.4008	0.98991	0.0:0.0:1.0:0.0	.	114	Q5HYJ3	FA76B_HUMAN	W	114	.	ENSP00000351631:R114W	R	-	1	2	FAM76B	95158954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.305000	0.72805	2.826000	0.97356	0.655000	0.94253	CGG		0.353	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		104	577	0	0	0	1	0	104	577					A	95519306	G	A	95519306	3	1	79	1	0	0	0	0	1	0	0	0	5650	1057	37	1	707	1	FAM76B	11	95519306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594570	95519306	39487210	12573	22890											
MTMR2	8898	broad.mit.edu	37	chr11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttcatcttctttgcttCgctttccactcactccaacc	2	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95582947C>T	ENST00000346299.5	-	9	1224	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	MTMR2_ENST00000393223.3_Missense_Mutation_p.R223Q|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGCTTCGCTTTCCACT	0.413																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(667-669)cGa>cAa		myotubularin related protein 2							174	157	163					11																	95582947		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95582947C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.884G>A	11.37:g.95582947C>T	ENSP00000345752:p.Arg295Gln					MTMR2_ENST00000346299.5_Missense_Mutation_p.R295Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	p.R223Q	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			11	1330	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	295			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.668G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121352	0.94385	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.17	4.26	0.50523	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.97023	3.925	0.80722	D	1	P;P	0.52577	0.954;0.954	B;P	0.47206	0.436;0.541	D	0.97125	0.9814	10	0.87932	D	0	.	13.854	0.63515	0.0:0.9256:0.0:0.0744	.	295;295	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	295;223;223;223;223;278	ENSP00000345752:R295Q;ENSP00000376915:R223Q;ENSP00000386882:R223Q;ENSP00000343737:R223Q;ENSP00000396020:R223Q	ENSP00000345752:R295Q	R	-	2	0	MTMR2	95222595	0.998000	0.40836	0.892000	0.35008	0.982000	0.71751	7.755000	0.85180	1.169000	0.42739	0.591000	0.81541	CGA		0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		20	614	0	0	0	1	0	20	614					T	95582947	C	T	95582947	3	4	79	1	0	0	0	0	1	0	0	0	9985	884	31	1	1075	1	MTMR2	11	95582947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63641	95582947	39423569	12574	22891											
MAML2	84441	broad.mit.edu	37	chr11	95712362	95712362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtggctggttgatgcccGtcctcgactgattcaaccct	11	12	1	2	rs372556150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95712362G>A	ENST00000524717.1	-	5	4505	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1074					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)				GTTGATGCCCGTCCTCGACTG	0.507			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3220-3222)aCg>aTg		mastermind-like 2 (Drosophila)		G	MET/THR	0,3922		0,0,1961	134	132	133		3221	5.4	1	11		133	1,8305		0,1,4152	no	missense	MAML2	NM_032427.1	81	0,1,6113	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	1074/1157	95712362	1,12227	1961	4153	6114	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712362G>A	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.3221C>T	11.37:g.95712362G>A	ENSP00000434552:p.Thr1074Met						p.T1074M	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4505	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1074					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3221C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623922	0.46840	0.0	1.2E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.110599	0.40818	N	0.001007	T	0.50086	0.1595	N	0.22421	0.69	0.31327	N	0.685315	D	0.76494	0.999	P	0.57846	0.828	T	0.57551	-0.7792	10	0.66056	D	0.02	-17.2867	14.6894	0.69072	0.0:0.0:1.0:0.0	.	1074	Q8IZL2	MAML2_HUMAN	M	1074	ENSP00000434552:T1074M;ENSP00000412394:T1074M	ENSP00000412394:T1074M	T	-	2	0	MAML2	95352010	1.000000	0.71417	0.969000	0.41365	0.343000	0.28985	4.423000	0.59861	2.527000	0.85204	0.561000	0.74099	ACG		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			8	289	0	0	0	1	0	8	289					A	95712362	G	A	95712362	3	1	79	1	0	0	0	0	1	0	0	0	9247	1145	40	1	253	1	MAML2	11	95712362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129415	95712362	39294154	12575	22892											
MAML2	84441	broad.mit.edu	37	chr11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgagaagtagacaggaGgctggaattgggagttaaaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	848					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)				GTAGACAGGAGGCTGGAATTG	0.423			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2542-2544)Ctc>Atc		mastermind-like 2 (Drosophila)							153	143	146					11																	95713041		1899	4115	6014	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95713041G>T	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.2542C>A	11.37:g.95713041G>T	ENSP00000434552:p.Leu848Ile						p.L848I	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	3826	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	848					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2542C>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289942	0.40494	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	.	0.105832	0.41294	D	0.000913	T	0.57286	0.2043	L	0.29908	0.895	0.35936	D	0.832882	D	0.63880	0.993	D	0.68483	0.958	T	0.59621	-0.7420	10	0.30078	T	0.28	-17.0723	19.1576	0.93517	0.0:0.0:1.0:0.0	.	848	Q8IZL2	MAML2_HUMAN	I	848	ENSP00000434552:L848I;ENSP00000412394:L848I	ENSP00000412394:L848I	L	-	1	0	MAML2	95352689	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.101000	0.64566	2.598000	0.87819	0.650000	0.86243	CTC		0.423	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			60	203	1	0	9.59835e-30	1	1.1228e-29	60	203					T	95713041	G	T	95713041	3	4	79	1	0	0	0	0	1	0	0	0	9247	1000	35	3	932	3	MAML2	11	95713041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	95713041	39293475	12576	22893											
MAML2	84441	broad.mit.edu	37	chr11	95825100	95825100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcccattcctgcaatggGctgattctgcatttgctgaa	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95825100G>A	ENST00000524717.1	-	2	3379	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	699					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)				CCTGCAATGGGCTGATTCTGC	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2095-2097)Ccc>Tcc		mastermind-like 2 (Drosophila)							77	79	79					11																	95825100		2111	4250	6361	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825100G>A	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.2095C>T	11.37:g.95825100G>A	ENSP00000434552:p.Pro699Ser						p.P699S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	3379	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	699					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2095C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.583013	0.03827	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.43688	0.94;0.94	5.44	2.32	0.28847	.	0.300651	0.27749	N	0.018011	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.27082	T	0.32	-1.027	4.0119	0.09626	0.2704:0.2275:0.5021:0.0	.	699	Q8IZL2	MAML2_HUMAN	S	699	ENSP00000434552:P699S;ENSP00000412394:P699S	ENSP00000412394:P699S	P	-	1	0	MAML2	95464748	0.895000	0.30542	0.002000	0.10522	0.111000	0.19643	0.223000	0.17719	0.147000	0.19030	0.655000	0.94253	CCC		0.478	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			4	86	0	0	0	1	0	4	86					A	95825100	G	A	95825100	3	1	79	1	0	0	0	0	1	0	0	0	9247	1203	42	2	1391	2	MAML2	11	95825100	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112059	95825100	39181416	12577	22894											
CCDC82	79780	broad.mit.edu	37	chr11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctttaacttgttcatcttCaacttcttctgtcattgcaa	3	10	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	499										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTCATCTTCAACTTCTTCT	0.348																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1495-1497)Gaa>Aaa		coiled-coil domain containing 82							181	176	178					11																	96092228		2200	4298	6498	SO:0001583	missense	79780						protein binding	g.chr11:96092228C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1495G>A	11.37:g.96092228C>T	ENSP00000278520:p.Glu499Lys					CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K	p.E499K			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	8	1923	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	499					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1495G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100002	0.20552	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24908	1.83;1.83;1.83	5.78	4.86	0.63082	.	0.181349	0.46758	N	0.000262	T	0.25419	0.0618	L	0.54323	1.7	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13575	-1.0504	10	0.27082	T	0.32	-12.0923	13.1438	0.59450	0.0:0.8154:0.116:0.0686	.	499	Q8N4S0	CCD82_HUMAN	K	499	ENSP00000278520:E499K;ENSP00000444010:E499K;ENSP00000397156:E499K	ENSP00000278520:E499K	E	-	1	0	CCDC82	95731876	0.061000	0.20836	0.132000	0.22025	0.707000	0.40811	1.190000	0.32126	0.919000	0.36945	-0.797000	0.03246	GAA		0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		106	403	0	0	0	1	0	106	403					T	96092228	C	T	96092228	3	4	79	1	0	0	0	0	1	0	0	0	2863	835	29	2	147	2	CCDC82	11	96092228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267128	96092228	38914288	12578	22895											
CCDC82	79780	broad.mit.edu	37	chr11	96098310	96098310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattagaataattttctactCgctcctgaaaacaaaaaata	3	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96098310C>T	ENST00000278520.5	-	7	1642	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	405										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATTTTCTACTCGCTCCTGaaa	0.289																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1213-1215)cGa>cAa		coiled-coil domain containing 82							32	31	32					11																	96098310		2200	4297	6497	SO:0001583	missense	79780						protein binding	g.chr11:96098310C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1214G>A	11.37:g.96098310C>T	ENSP00000278520:p.Arg405Gln					CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q	p.R405Q			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	7	1642	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	405					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1214G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829599	0.71258	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.44083	0.93;0.93;0.93	5.72	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.61274	0.2334	M	0.66939	2.045	0.47476	D	0.999434	D	0.89917	1.0	D	0.80764	0.994	T	0.62661	-0.6807	10	0.48119	T	0.1	-3.3533	13.5099	0.61506	0.0:0.9237:0.0:0.0763	.	405	Q8N4S0	CCD82_HUMAN	Q	405	ENSP00000278520:R405Q;ENSP00000444010:R405Q;ENSP00000397156:R405Q	ENSP00000278520:R405Q	R	-	2	0	CCDC82	95737958	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	4.941000	0.63540	1.424000	0.47217	0.591000	0.81541	CGA		0.289	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		5	155	0	0	0	1	0	5	155					T	96098310	C	T	96098310	3	4	79	1	0	0	0	0	1	0	0	0	2863	884	31	1	432	1	CCDC82	11	96098310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6082	96098310	38908206	12579	22896											
CCDC82	79780	broad.mit.edu	37	chr11	96117513	96117513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgttgagatcattatcCtcttgacttaaatgtttttc	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96117513C>A	ENST00000278520.5	-	3	827	c.399G>T	c.(397-399)gaG>gaT	p.E133D	CCDC82_ENST00000423339.2_Missense_Mutation_p.E133D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E133D|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	133										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GATCATTATCCTCTTGACTTA	0.323																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(397-399)gaG>gaT		coiled-coil domain containing 82							178	178	178					11																	96117513		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117513C>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.399G>T	11.37:g.96117513C>A	ENSP00000278520:p.Glu133Asp					CCDC82_ENST00000423339.2_Missense_Mutation_p.E133D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E133D	p.E133D			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	827	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	133					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.399G>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744057	0.15710	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	3.68	0.735	0.18300	.	.	.	.	.	T	0.22898	0.0553	L	0.48642	1.525	0.09310	N	1	P;P	0.44627	0.839;0.672	P;B	0.46110	0.504;0.363	T	0.16188	-1.0411	9	0.16896	T	0.51	.	6.5432	0.22392	0.0:0.4201:0.0:0.5799	.	133;133	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	D	133	ENSP00000278520:E133D;ENSP00000444010:E133D;ENSP00000397156:E133D;ENSP00000442723:E133D	ENSP00000278520:E133D	E	-	3	2	CCDC82	95757161	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.240000	0.18042	0.143000	0.18926	0.650000	0.86243	GAG		0.323	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		9	412	1	0	3.09899e-07	1	3.21319e-07	9	412					A	96117513	C	A	96117513	3	1	79	1	0	0	0	0	1	0	0	0	2863	680	24	3	1263	3	CCDC82	11	96117513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19203	96117513	38889003	12580	22897											
CNTN5	53942	broad.mit.edu	37	chr11	99690411	99690411	+	Silent	SNP	T	T	G													tcattaggaacactgagtgcTtcttcacccagctggctagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	ENST00000524871.1	+	4	482	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	64					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		CACTGAGTGCTTCTTCACCCA	0.428																																						ENST00000524871.1																			0				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						c.(190-192)gcT>gcG		contactin 5							93	94	93					11																	99690411		1924	4125	6049	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690411T>G	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.192T>G	11.37:g.99690411T>G						CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000279463.3_Silent_p.A64A	p.A64A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	482	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	64					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.192T>G	CCDS53696.1																																																																																				0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		25	250	0	0	0	1	0	25	250					G	99690411	T	G	99690411	2	3	79	1	0	0	0	0	0	0	0	1	3653	1596	56	4		4	CNTN5	11	99690411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3572898	99690411	35316105	12581	22898	144	2									
CNTN5	53942	broad.mit.edu	37	chr11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T													attaggaacactgagtgcttCttcacccagctggctagggg					rs200519976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	65					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		CTGAGTGCTTCTTCACCCAGC	0.428																																						ENST00000524871.1																			0				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						c.(193-195)tCt>tTt		contactin 5							91	92	92					11																	99690413		1922	4125	6047	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690413C>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.194C>T	11.37:g.99690413C>T	ENSP00000435637:p.Ser65Phe					CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F	p.S65F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	484	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	65					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.194C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575017	0.28092	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	4.74	3.8	0.43715	.	0.334642	0.24894	N	0.034757	T	0.42131	0.1189	N	0.19112	0.55	0.37224	D	0.905385	P;P	0.46277	0.875;0.79	P;B	0.44732	0.459;0.276	T	0.50250	-0.8850	10	0.42905	T	0.14	.	13.9622	0.64188	0.153:0.8469:0.0:0.0	.	65;65	E9PKE8;O94779	.;CNTN5_HUMAN	F	65	ENSP00000433575:S65F;ENSP00000436185:S65F;ENSP00000435637:S65F;ENSP00000279463:S65F	ENSP00000279463:S65F	S	+	2	0	CNTN5	99195623	0.904000	0.30761	0.996000	0.52242	0.267000	0.26476	1.828000	0.39111	1.266000	0.44231	0.650000	0.86243	TCT		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		20	246	0	0	0	1	0	20	246					T	99690413	C	T	99690413	3	4	79	1	0	0	0	0	1	0	0	0	3653	913	32	2	200	2	CNTN5	11	99690413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	99690413	35316103	12582	22899	144	2									
CNTN5	53942	broad.mit.edu	37	chr11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattttcctttcacggttAcagctgctaaaggaacaact	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	311	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		TTTCACGGTTACAGCTGCTAA	0.338																																						ENST00000524871.1																			0				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						c.(931-933)Aca>Gca		contactin 5							89	89	89					11																	99872819		1851	4099	5950	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872819A>G	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.931A>G	11.37:g.99872819A>G	ENSP00000435637:p.Thr311Ala					CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A	p.T311A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1221	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	311			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.931A>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807120	0.50421	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.68	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106561	0.64402	D	0.000003	T	0.67344	0.2883	L	0.46614	1.455	0.40422	D	0.979856	P;P;P	0.46621	0.722;0.856;0.881	P;P;P	0.53450	0.601;0.466;0.726	T	0.62685	-0.6802	10	0.18276	T	0.48	.	10.7406	0.46152	0.9256:0.0:0.0744:0.0	.	311;237;311	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	A	311;311;311;237;311	ENSP00000433575:T311A;ENSP00000436185:T311A;ENSP00000435637:T311A;ENSP00000393229:T237A;ENSP00000279463:T311A	ENSP00000279463:T311A	T	+	1	0	CNTN5	99378029	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.319000	0.65835	0.989000	0.38761	0.482000	0.46254	ACA		0.338	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		13	63	0	0	0	1	0	13	63					G	99872819	A	G	99872819	3	3	79	1	0	0	0	0	1	0	0	0	3653	391	14	4	957	4	CNTN5	11	99872819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182406	99872819	35133697	12583	22900											
PGR	5241	broad.mit.edu	37	chr11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgactcgaagctgtaTtgtgggctctggctggcttc	14	8	1	1	rs540664133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.Q556H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	556	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGAAGCTGTATTGTGGGCTCT	0.418																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1666-1668)caA>caC		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						72	63	66					11																	100996859		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100996859T>G	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1668A>C	11.37:g.100996859T>G	ENSP00000325120:p.Gln556His					PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	p.Q556H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	2	3121	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	556			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1668A>C	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917796	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09817	2.94;2.94	5.55	2.2	0.27929	.	0.108809	0.41001	D	0.000978	T	0.25606	0.0623	M	0.64404	1.975	0.30183	N	0.800201	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.958	T	0.03374	-1.1043	10	0.62326	D	0.03	.	9.024	0.36218	0.0:0.6891:0.0:0.3109	.	556;556	Q8TDS3;P06401	.;PRGR_HUMAN	H	556	ENSP00000325120:Q556H;ENSP00000263463:Q556H	ENSP00000263463:Q556H	Q	-	3	2	PGR	100502069	0.794000	0.28838	1.000000	0.80357	0.042000	0.13812	0.195000	0.17155	0.652000	0.30806	-0.248000	0.11899	CAA		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			42	129	0	0	0	1	0	42	129					G	100996859	T	G	100996859	3	3	79	1	0	0	0	0	1	0	0	0	11847	1490	52	4	1161	4	PGR	11	100996859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1124040	100996859	34009657	12584	22901											
PGR	5241	broad.mit.edu	37	chr11	100998653	100998653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctttatctttagagcGggcggctggaagtcgctata	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P383P	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	383	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTTAGAGCGGGCGGCTGGA	0.682																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1147-1149)ccC>ccT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						14	18	16					11																	100998653		2044	4071	6115	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998653G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1149C>T	11.37:g.100998653G>A						PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	p.P383P	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2602	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	383			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.1149C>T	CCDS8310.1																																																																																				0.682	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			35	191	0	0	0	1	0	35	191					A	100998653	G	A	100998653	2	1	79	1	0	0	0	0	0	0	0	1	11847	1103	39	1		1	PGR	11	100998653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1794	100998653	34007863	12585	22902											
PGR	5241	broad.mit.edu	37	chr11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcagctgccgagtgcGggctgccaataaggcgtgat	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.R319C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	319	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCCGAGTGCGGGCTGCCAAT	0.687																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(955-957)Cgc>Tgc		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						12	15	14					11																	100998847		1853	3714	5567	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998847G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.955C>T	11.37:g.100998847G>A	ENSP00000325120:p.Arg319Cys					PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	p.R319C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2408	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	319			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.955C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214077	0.58452	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.18657	2.2;2.2	4.37	3.38	0.38709	.	0.000000	0.40144	N	0.001167	T	0.45994	0.1370	M	0.82323	2.585	0.47819	D	0.999528	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.52132	-0.8616	10	0.87932	D	0	.	11.0039	0.47622	0.0:0.0:0.611:0.3889	.	319;319	Q8TDS3;P06401	.;PRGR_HUMAN	C	319	ENSP00000325120:R319C;ENSP00000263463:R319C	ENSP00000263463:R319C	R	-	1	0	PGR	100504057	0.993000	0.37304	1.000000	0.80357	0.746000	0.42486	1.562000	0.36353	1.962000	0.57031	0.561000	0.74099	CGC		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			37	166	0	0	0	1	0	37	166					A	100998847	G	A	100998847	3	1	79	1	0	0	0	0	1	0	0	0	11847	1116	39	1	1878	1	PGR	11	100998847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	100998847	34007669	12586	22903											
PGR	5241	broad.mit.edu	37	chr11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcaacctccaccGcagcggcctgcggagacggc	10	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A218V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	218	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACCTCCACCGCAGCGGCCTG	0.711																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(652-654)gCg>gTg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						10	13	12					11																	100999149		2147	4241	6388	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999149G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.653C>T	11.37:g.100999149G>A	ENSP00000325120:p.Ala218Val					PGR_ENST00000263463.5_Missense_Mutation_p.A218V|PGR_ENST00000534013.1_Intron	p.A218V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2106	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	218			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.653C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585081	0.03827	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08008	3.14;3.14	3.72	-5.21	0.02815	.	2.543820	0.01540	N	0.019191	T	0.03827	0.0108	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.33445	-0.9868	10	0.02654	T	1	.	2.2323	0.04000	0.4059:0.1211:0.3515:0.1215	.	218;218	Q8TDS3;P06401	.;PRGR_HUMAN	V	218	ENSP00000325120:A218V;ENSP00000263463:A218V	ENSP00000263463:A218V	A	-	2	0	PGR	100504359	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.615000	0.05597	-0.747000	0.04759	-0.258000	0.10820	GCG		0.711	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			35	147	0	0	0	1	0	35	147					A	100999149	G	A	100999149	3	1	79	1	0	0	0	0	1	0	0	0	11847	1087	38	1	2180	1	PGR	11	100999149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	100999149	34007367	12587	22904											
TRPC6	7225	broad.mit.edu	37	chr11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagattgaagggtacagGaagtgttctgccctcctcaa	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2281-2283)Cct>Tct		transient receptor potential cation channel, subfamily C, member 6							79	85	83					11																	101342042		2203	4298	6501	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342042G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2281C>T	11.37:g.101342042G>A	ENSP00000340913:p.Pro761Ser					TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S	p.P761S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	9	2705	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	761					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2281C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897437	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97184	0.9853	10	0.87932	D	0	-16.1746	19.7888	0.96450	0.0:0.0:1.0:0.0	.	706;645;761	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	761;683;645;706	ENSP00000340913:P761S;ENSP00000435574:P683S;ENSP00000343672:P645S;ENSP00000353687:P706S	ENSP00000340913:P761S	P	-	1	0	TRPC6	100847252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.864000	0.99589	2.662000	0.90505	0.655000	0.94253	CCT		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		92	472	0	0	0	1	0	92	472					A	101342042	G	A	101342042	3	1	79	1	0	0	0	0	1	0	0	0	16636	1174	41	2	534	2	TRPC6	11	101342042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342893	101342042	33664474	12588	22905											
TRPC6	7225	broad.mit.edu	37	chr11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattatagactccataaagaAcgtaaccaatgttttcaatg	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000344327.3	-	8	2541	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	706					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCATAAAGAACGTAACCAAT	0.338																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2116-2118)gTt>gCt		transient receptor potential cation channel, subfamily C, member 6							88	89	88					11																	101342956		2203	4298	6501	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342956A>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2117T>C	11.37:g.101342956A>G	ENSP00000340913:p.Val706Ala					TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A	p.V706A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	8	2541	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	706					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2117T>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518349	0.44763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.956	D;D;D	0.87578	0.998;0.995;0.927	D	0.99215	1.0877	10	0.33141	T	0.24	-6.7012	16.1667	0.81768	1.0:0.0:0.0:0.0	.	651;590;706	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	A	706;628;590;651	ENSP00000340913:V706A;ENSP00000435574:V628A;ENSP00000343672:V590A;ENSP00000353687:V651A	ENSP00000340913:V706A	V	-	2	0	TRPC6	100848166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.531000	0.81973	2.210000	0.71456	0.533000	0.62120	GTT		0.338	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		58	313	0	0	0	1	0	58	313					G	101342956	A	G	101342956	3	3	79	1	0	0	0	0	1	0	0	0	16636	43	2	4	702	4	TRPC6	11	101342956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	914	101342956	33663560	12589	22906											
TRPC6	7225	broad.mit.edu	37	chr11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgtgtgctacaaacTtcatgaatggtccacgcatt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000344327.3	-	5	1749	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	442					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTACAAACTTCATGAATGG	0.413																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1324-1326)aAg>aCg		transient receptor potential cation channel, subfamily C, member 6							97	88	91					11																	101353865		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101353865T>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1325A>C	11.37:g.101353865T>G	ENSP00000340913:p.Lys442Thr					TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T	p.K442T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	1749	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	442					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1325A>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618452	0.66787	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.969;0.997	D	0.87137	0.2200	10	0.87932	D	0	-10.7074	15.6364	0.76958	0.0:0.0:0.0:1.0	.	387;326;442	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	442;442;326;387	ENSP00000340913:K442T;ENSP00000435574:K442T;ENSP00000343672:K326T;ENSP00000353687:K387T	ENSP00000340913:K442T	K	-	2	0	TRPC6	100859075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.089000	0.63090	0.482000	0.46254	AAG		0.413	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		37	227	0	0	0	1	0	37	227					G	101353865	T	G	101353865	3	3	79	1	0	0	0	0	1	0	0	0	16636	1609	56	4	1506	4	TRPC6	11	101353865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10909	101353865	33652651	12590	22907											
TRPC6	7225	broad.mit.edu	37	chr11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttagtgacctaccttgaactCtttctcaatattggccagaa	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000344327.3	-	2	1361	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	313					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTTGAACTCTTTCTCAATA	0.473																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(937-939)Gag>Aag		transient receptor potential cation channel, subfamily C, member 6							136	127	130					11																	101374763		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374763C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.937G>A	11.37:g.101374763C>T	ENSP00000340913:p.Glu313Lys					TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K	p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1361	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	313					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.937G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036539	0.93630	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.7	5.7	0.88788	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.90595	3.13	0.80722	D	1	D;D;D	0.55385	0.964;0.961;0.971	P;D;P	0.63381	0.742;0.914;0.832	D	0.95753	0.8793	10	0.87932	D	0	-0.7207	19.8405	0.96681	0.0:1.0:0.0:0.0	.	313;313;313	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	313	ENSP00000340913:E313K;ENSP00000435574:E313K;ENSP00000343672:E313K;ENSP00000353687:E313K	ENSP00000340913:E313K	E	-	1	0	TRPC6	100879973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG		0.473	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		116	546	0	0	0	1	0	116	546					T	101374763	C	T	101374763	3	4	79	1	0	0	0	0	1	0	0	0	16636	922	32	2	1906	2	TRPC6	11	101374763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20898	101374763	33631753	12591	22908											
C11orf70	85016	broad.mit.edu	37	chr11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagaaaatacagattacctCttctgtctttaaagtttcag	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(649-651)tCt>tAt		chromosome 11 open reading frame 70							84	87	86					11																	101951987		2203	4295	6498	SO:0001583	missense	85016							g.chr11:101951987C>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.650C>A	11.37:g.101951987C>A	ENSP00000414390:p.Ser217Tyr					C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	6	678	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	217					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.650C>A	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517777	0.85495	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.047893	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85111	0.0963	9	0.87932	D	0	-25.6465	18.8612	0.92273	0.0:1.0:0.0:0.0	.	217	Q9BRQ4	CK070_HUMAN	Y	217;217;179	.	ENSP00000392150:S179Y	S	+	2	0	C11orf70	101457197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.119000	0.71590	2.873000	0.98535	0.563000	0.77884	TCT		0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		48	229	1	0	1.04682e-39	1	1.26644e-39	48	229					A	101951987	C	A	101951987	3	1	79	1	0	0	0	0	1	0	0	0	1664	913	32	3	554	3	C11orf70	11	101951987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577224	101951987	33054529	12592	22909											
YAP1	10413	broad.mit.edu	37	chr11	102033283	102033283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccagtgcagcagaaTatgatgaactcggcttcagg	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000282441.5	+	3	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	223					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGCAGCAGAATATGATGAACT	0.478																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(667-669)aaT>aaC		Yes-associated protein 1							162	152	155					11																	102033283		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102033283T>C		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.669T>C	11.37:g.102033283T>C						YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N	p.N223N	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	3	1057	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	223					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.669T>C	CCDS44716.1																																																																																				0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		180	710	0	0	0	1	0	180	710					C	102033283	T	C	102033283	2	2	79	1	0	0	0	0	0	0	0	1	17520	1403	49	4		4	YAP1	11	102033283	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81296	102033283	32973233	12593	22910											
BIRC2	329	broad.mit.edu	37	chr11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgaatgacaaggtcaAatgcttctgttgtggcctga	13	6	2	3	rs375296936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000227758.2	+	2	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	82					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GACAAGGTCAAATGCTTCTGT	0.428																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(244-246)aAa>aGa		baculoviral IAP repeat containing 2		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	100	98	98		245	3.3	1	11		98	0,8598		0,0,4299	no	missense	BIRC2	NM_001166.3	26	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	82/619	102220830	1,13003	2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220830A>G	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.245A>G	11.37:g.102220830A>G	ENSP00000227758:p.Lys82Arg					BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	p.K82R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1644	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	82					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.245A>G	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.927061	0.52759	2.27E-4	0.0	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.65	3.35	0.38373	Baculoviral inhibition of apoptosis protein repeat (5);	0.180898	0.64402	N	0.000010	T	0.57666	0.2069	N	0.17723	0.515	0.41648	D	0.989116	B	0.28350	0.208	B	0.36766	0.232	T	0.53968	-0.8363	10	0.46703	T	0.11	-4.2378	9.2562	0.37584	0.8532:0.0:0.1468:0.0	.	82	Q13490	BIRC2_HUMAN	R	33;82;82;61;61	ENSP00000431723:K33R;ENSP00000227758:K82R;ENSP00000434979:K61R;ENSP00000434708:K61R	ENSP00000227758:K82R	K	+	2	0	BIRC2	101726040	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.930000	0.48924	0.567000	0.29293	0.533000	0.62120	AAA		0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		76	376	0	0	0	1	0	76	376					G	102220830	A	G	102220830	3	3	79	1	0	0	0	0	1	0	0	0	1437	14	1	4	247	4	BIRC2	11	102220830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187547	102220830	32785686	12594	22911											
MMP7	4316	broad.mit.edu	37	chr11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagttgcagcatacaGgaagttaatccctacaaccg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	209					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GCAGCATACAGGAAGTTAATC	0.343																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(625-627)Ctg>Atg		matrix metallopeptidase 7 (matrilysin, uterine)							94	87	89					11																	102394121		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102394121G>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.625C>A	11.37:g.102394121G>T	ENSP00000260227:p.Leu209Met						p.L209M	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	5	677	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	209					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.625C>A	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877973	0.51801	.	.	ENSG00000137673	ENST00000260227	T	0.22539	1.95	5.23	1.88	0.25563	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.722580	0.11909	N	0.517868	T	0.42944	0.1225	M	0.79475	2.455	0.09310	N	0.999992	D	0.89917	1.0	D	0.77004	0.989	T	0.12682	-1.0538	10	0.87932	D	0	-2.0711	6.7537	0.23501	0.4982:0.0:0.5018:0.0	.	209	P09237	MMP7_HUMAN	M	209	ENSP00000260227:L209M	ENSP00000260227:L209M	L	-	1	2	MMP7	101899331	.	.	0.384000	0.26145	0.945000	0.59286	.	.	0.609000	0.30018	0.557000	0.71058	CTG		0.343	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			68	261	1	0	3.28884e-47	1	4.04649e-47	68	261					T	102394121	G	T	102394121	3	4	79	1	0	0	0	0	1	0	0	0	9708	991	35	3	186	3	MMP7	11	102394121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173291	102394121	32612395	12595	22912											
MMP8	4317	broad.mit.edu	37	chr11	102584189	102584189	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgaagacatggaagaaatCtataaaaaaagagagataat	8	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102584189C>A	ENST00000236826.3	-	10	1393		c.e10-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TGGAAGAAATCTATAAAAAAA	0.353																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.e10-1		matrix metallopeptidase 8 (neutrophil collagenase)							78	71	73					11																	102584189		2203	4299	6502	SO:0001630	splice_region_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584189C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1295-1G>T	11.37:g.102584189C>A								NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	10	1393	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						Q45F99	Splice_Site	SNP	ENST00000236826.3	37		CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005730	0.54254	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1124	0.72368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102089399	0.988000	0.35896	0.065000	0.19835	0.338000	0.28826	3.448000	0.52943	2.622000	0.88805	0.563000	0.77884	.		0.353	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	Intron	9	249	1	0	0.0581538	1	0.0582741	9	249					A	102584189	C	A	102584189	5	1	79	1	0	0	0	0	0	0	1	0	9709	927	32	3	113	3	MMP8	11	102584189	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190068	102584189	32422327	12596	22913											
MMP8	4317	broad.mit.edu	37	chr11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtaagagcagaaatgGaagcgtcttcagggagaaca	14	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGCAGAAATGGAAGCGTCTTC	0.458																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(22-24)Cca>Tca		matrix metallopeptidase 8 (neutrophil collagenase)							165	175	171					11																	102595565		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102595565G>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.22C>T	11.37:g.102595565G>A	ENSP00000236826:p.Pro8Ser						p.P8S	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	1	120	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	8					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.22C>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702308	0.30232	.	.	ENSG00000118113	ENST00000236826	T	0.12361	2.69	5.26	0.871	0.19107	.	1.388890	0.04912	N	0.453405	T	0.13543	0.0328	L	0.45352	1.415	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.42015	-0.9476	10	0.15499	T	0.54	.	11.4239	0.49998	0.0:0.5293:0.3352:0.1356	.	8	P22894	MMP8_HUMAN	S	8	ENSP00000236826:P8S	ENSP00000236826:P8S	P	-	1	0	MMP8	102100775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.023000	0.13963	-0.176000	0.13171	CCA		0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		153	643	0	0	0	1	0	153	643					A	102595565	G	A	102595565	3	1	79	1	0	0	0	0	1	0	0	0	9709	1174	41	2	1421	2	MMP8	11	102595565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11376	102595565	32410951	12597	22914											
MMP10	4319	broad.mit.edu	37	chr11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagagtgggtacatcaaagCttcagtgttggctgagtgaa	14	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	233					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TACATCAAAGCTTCAGTGTTG	0.473																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(697-699)Gct>Tct		matrix metallopeptidase 10 (stromelysin 2)							136	127	130					11																	102647433		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647433C>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.697G>T	11.37:g.102647433C>A	ENSP00000279441:p.Ala233Ser						p.A233S	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	733	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	233					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.697G>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	19.51	3.841626	0.71488	.	.	ENSG00000166670	ENST00000279441	T	0.11930	2.73	4.31	2.35	0.29111	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.283692	0.26627	N	0.023340	T	0.17874	0.0429	L	0.37507	1.11	0.48288	D	0.999629	B	0.33280	0.405	P	0.47827	0.558	T	0.05321	-1.0892	10	0.48119	T	0.1	.	8.7369	0.34534	0.1544:0.7654:0.0:0.0802	.	233	P09238	MMP10_HUMAN	S	233	ENSP00000279441:A233S	ENSP00000279441:A233S	A	-	1	0	MMP10	102152643	0.661000	0.27430	0.002000	0.10522	0.004000	0.04260	1.335000	0.33839	0.493000	0.27837	0.655000	0.94253	GCT		0.473	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			79	408	1	0	5.41795e-27	1	6.26308e-27	79	408					A	102647433	C	A	102647433	3	1	79	1	0	0	0	0	1	0	0	0	9690	797	28	3	757	3	MMP10	11	102647433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51868	102647433	32359083	12598	22915											
MMP13	4322	broad.mit.edu	37	chr11	102820881	102820881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggagactggtaatgGcatcaagggataaggaaggg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102820881G>A	ENST00000260302.3	-	6	903	c.875C>T	c.(874-876)gCc>gTc	p.A292V	MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	292	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ACTGGTAATGGCATCAAGGGA	0.443																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(874-876)gCc>gTc		matrix metallopeptidase 13 (collagenase 3)							318	289	299					11																	102820881		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820881G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.875C>T	11.37:g.102820881G>A	ENSP00000260302:p.Ala292Val					MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	903	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	292			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.875C>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511149	0.96386	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.18810	2.19;2.19	5.77	5.77	0.91146	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73445	-0.3980	10	0.87932	D	0	.	19.5952	0.95535	0.0:0.0:1.0:0.0	.	292	P45452	MMP13_HUMAN	V	292	ENSP00000260302:A292V;ENSP00000339672:A292V	ENSP00000260302:A292V	A	-	2	0	MMP13	102326091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.713000	0.92767	0.650000	0.86243	GCC		0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		21	718	0	0	0	1	0	21	718					A	102820881	G	A	102820881	3	1	79	1	0	0	0	0	1	0	0	0	9693	1203	42	2	560	2	MMP13	11	102820881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173448	102820881	32185635	12599	22916											
DYNC2H1	79659	broad.mit.edu	37	chr11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatcagccactgttgtGcaactgtcttgaaatcaaca	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACTGTTGTGCAACTGTCTT	0.517																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(100-102)tGc>tAc		dynein, cytoplasmic 2, heavy chain 1							85	83	84					11																	102980404		1971	4168	6139	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980404G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.101G>A	11.37:g.102980404G>A	ENSP00000364887:p.Cys34Tyr					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	245	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	34			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.101G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206026	0.01568	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28454	1.75;1.61;1.75	5.63	-4.3	0.03710	.	0.812540	0.09108	U	0.847418	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29458	-1.0011	10	0.24483	T	0.36	.	2.6491	0.04993	0.2384:0.257:0.3793:0.1253	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	34	ENSP00000364887:C34Y;ENSP00000334021:C34Y;ENSP00000381167:C34Y	ENSP00000334021:C34Y	C	+	2	0	DYNC2H1	102485614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-0.402000	0.07633	-1.322000	0.01289	TGC		0.517	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		29	150	0	0	0	1	0	29	150					A	102980404	G	A	102980404	3	1	79	1	0	0	0	0	1	0	0	0	4862	1319	46	2	103	2	DYNC2H1	11	102980404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159523	102980404	32026112	12600	22917											
DYNC2H1	79659	broad.mit.edu	37	chr11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcattttaacatcagtgtTtcaaggagattggggctcag	10	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2556					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACATCAGTGTTTCAAGGAGAT	0.343																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(7666-7668)tTt>tGt		dynein, cytoplasmic 2, heavy chain 1							63	61	62					11																	103062952		1839	4093	5932	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103062952T>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7667T>G	11.37:g.103062952T>G	ENSP00000364887:p.Phe2556Cys					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	47	7811	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2556					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.7667T>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354833	0.61293	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.38612	0.1047	L	0.40543	1.245	0.36516	D	0.869866	P;P	0.45531	0.78;0.86	B;P	0.50440	0.325;0.641	T	0.41893	-0.9483	9	0.51188	T	0.08	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	2556;2556	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2556	ENSP00000364887:F2556C;ENSP00000381167:F2556C	ENSP00000364887:F2556C	F	+	2	0	DYNC2H1	102568162	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.682000	0.84083	2.302000	0.77476	0.533000	0.62120	TTT		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	68	0	0	0	1	0	17	68					G	103062952	T	G	103062952	3	3	79	1	0	0	0	0	1	0	0	0	4862	1841	64	4	7853	4	DYNC2H1	11	103062952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	82548	103062952	31943564	12601	22918											
DYNC2H1	79659	broad.mit.edu	37	chr11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcttgtggatgaactgaAcagaaaagctggagaacaaa	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2915	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAACTGAACAGAAAAGCT	0.353																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8743-8745)aAc>aTc		dynein, cytoplasmic 2, heavy chain 1							89	83	85					11																	103086499		1887	4125	6012	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103086499A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8744A>T	11.37:g.103086499A>T	ENSP00000364887:p.Asn2915Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I	p.N2915I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	55	8888	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2915			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.8744A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069975	0.76301	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74315	-0.83;-0.83	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.090476	0.41194	U	0.000931	T	0.74023	0.3662	L	0.40543	1.245	0.50313	D	0.999868	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.77011	-0.2746	10	0.66056	D	0.02	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2915;2915	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2915	ENSP00000364887:N2915I;ENSP00000381167:N2915I	ENSP00000364887:N2915I	N	+	2	0	DYNC2H1	102591709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.016000	0.59253	0.533000	0.62120	AAC		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		19	76	0	0	0	1	0	19	76					T	103086499	A	T	103086499	3	4	79	1	0	0	0	0	1	0	0	0	4862	43	2	5	8962	5	DYNC2H1	11	103086499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23547	103086499	31920017	12602	22919											
DYNC2H1	79659	broad.mit.edu	37	chr11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttttcagaatgctaagCgtgccagtactgcagctgca	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3081	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATGCTAAGCGTGCCAGTAC	0.398																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(9241-9243)Cgt>Tgt		dynein, cytoplasmic 2, heavy chain 1							90	87	88					11																	103093703		1882	4113	5995	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103093703C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9241C>T	11.37:g.103093703C>T	ENSP00000364887:p.Arg3081Cys					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	59	9385	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3081			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.9241C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222317	0.79464	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74421	-0.84;-0.84	5.92	5.92	0.95590	Dynein heavy chain, coiled coil stalk (1);	0.060551	0.64402	D	0.000004	D	0.88570	0.6472	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90260	0.4300	10	0.87932	D	0	.	13.706	0.62639	0.2692:0.7308:0.0:0.0	.	3081;3081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3081	ENSP00000364887:R3081C;ENSP00000381167:R3081C	ENSP00000364887:R3081C	R	+	1	0	DYNC2H1	102598913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	2.809000	0.96659	0.655000	0.94253	CGT		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		40	232	0	0	0	1	0	40	232					T	103093703	C	T	103093703	3	4	79	1	0	0	0	0	1	0	0	0	4862	768	27	1	9475	1	DYNC2H1	11	103093703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7204	103093703	31912813	12603	22920											
DYNC2H1	79659	broad.mit.edu	37	chr11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggcgctaagaccggacaGattgcaaagtgccatggctc	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGACCGGACAGATTGCAAAGT	0.323																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11053-11055)aGa>aTa		dynein, cytoplasmic 2, heavy chain 1							98	92	94					11																	103158293		1836	4086	5922	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103158293G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11054G>T	11.37:g.103158293G>T	ENSP00000364887:p.Arg3685Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	p.R3685I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	75	11198	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3685					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11054G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218475	0.95104	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.62835	-0.6770	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3685;3692	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3685;3692	ENSP00000364887:R3685I;ENSP00000381167:R3692I	ENSP00000364887:R3685I	R	+	2	0	DYNC2H1	102663503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	103	1	0	2.94398e-08	1	3.0722e-08	17	103					T	103158293	G	T	103158293	3	4	79	1	0	0	0	0	1	0	0	0	4862	942	33	3	11377	3	DYNC2H1	11	103158293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64590	103158293	31848223	12604	22921											
DYNC2H1	79659	broad.mit.edu	37	chr11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actattttgaccttagagttCttcagtcatacctgaagcag	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3940					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTAGAGTTCTTCAGTCATA	0.333																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11818-11820)Ctt>Ttt		dynein, cytoplasmic 2, heavy chain 1							93	88	90					11																	103191850		1816	4080	5896	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103191850C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11818C>T	11.37:g.103191850C>T	ENSP00000364887:p.Leu3940Phe					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F	p.L3940F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	81	11962	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3940					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11818C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204404	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.12255	2.7;2.7	5.72	5.72	0.89469	Dynein heavy chain (1);	0.134693	0.50627	D	0.000104	T	0.49541	0.1563	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58691	-0.7592	10	0.72032	D	0.01	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	3940;3947	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3940;3947;186	ENSP00000364887:L3940F;ENSP00000381167:L3947F	ENSP00000364887:L3940F	L	+	1	0	DYNC2H1	102697060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.626000	0.46460	2.705000	0.92388	0.650000	0.86243	CTT		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	73	0	0	0	1	0	17	73					T	103191850	C	T	103191850	3	4	79	1	0	0	0	0	1	0	0	0	4862	913	32	2	12165	2	DYNC2H1	11	103191850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33557	103191850	31814666	12605	22922											
DDI1	414301	broad.mit.edu	37	chr11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccactgttccctgggctCctacggcctcaaagatggcg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	63	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCCTGGGCTCCTACGGCCTC	0.582																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(187-189)tCc>tTc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							151	140	144					11																	103907738		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907738C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.188C>T	11.37:g.103907738C>T	ENSP00000302805:p.Ser63Phe					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.S63F	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	431	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	63			Ubiquitin-like.		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.188C>T	CCDS31660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580993|2.580993	0.46006|0.46006	.|.	.|.	ENSG00000170962|ENSG00000170967	ENST00000529268|ENST00000302259	T|T	0.36520|0.74002	1.25|-0.8	4.97|4.97	4.04|4.04	0.47022|0.47022	.|Ubiquitin supergroup (1);Ubiquitin (2);	.|0.318671	.|0.34555	.|N	.|0.003868	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.75447|0.75447	2.3|2.3	0.30488|0.30488	N|N	0.771676|0.771676	.|D	.|0.69078	.|0.997	.|D	.|0.69824	.|0.966	T|T	0.82246|0.82246	-0.0552|-0.0552	7|10	0.72032|0.72032	D|D	0.01|0.01	-8.519|-8.519	10.7048|10.7048	0.45948|0.45948	0.1902:0.8098:0.0:0.0|0.1902:0.8098:0.0:0.0	.|.	.|63	.|Q8WTU0	.|DDI1_HUMAN	E|F	6|63	ENSP00000432909:G6E|ENSP00000302805:S63F	ENSP00000432909:G6E|ENSP00000302805:S63F	G|S	-|+	2|2	0|0	PDGFD|DDI1	103412948|103412948	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.333000|0.333000	0.28666|0.28666	1.837000|1.837000	0.39201|0.39201	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GGA|TCC		0.582	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		185	768	0	0	0	1	0	185	768					T	103907738	C	T	103907738	3	4	79	1	0	0	0	0	1	0	0	0	4339	855	30	2	190	2	DDI1	11	103907738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715888	103907738	31098778	12606	22923											
DDI1	414301	broad.mit.edu	37	chr11	103908400	103908400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatgaggctggtggacCgacggtgggctggggttgct	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103908400C>T	ENST00000302259.3	+	1	1093	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	284							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTGGTGGACCGACGGTGGGC	0.512																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(850-852)Cga>Tga		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							99	94	96					11																	103908400		2202	4299	6501	SO:0001587	stop_gained	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908400C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.850C>T	11.37:g.103908400C>T	ENSP00000302805:p.Arg284*					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.R284*	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1093	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	284					Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	ENST00000302259.3	37	c.850C>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	37	6.548956	0.97654	.	.	ENSG00000170967	ENST00000302259	.	.	.	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4899	11.4457	0.50123	0.4742:0.5258:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302805:R284X	R	+	1	2	DDI1	103413610	0.997000	0.39634	0.822000	0.32727	0.672000	0.39443	0.464000	0.21988	0.840000	0.34995	0.655000	0.94253	CGA		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		12	527	0	0	0	1	0	12	527					T	103908400	C	T	103908400	4	4	79	1	0	0	0	0	0	1	0	0	4339	644	23	1	852	1	DDI1	11	103908400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	103908400	31098116	12607	22924											
CASP4	837	broad.mit.edu	37	chr11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcggttgttgaatatctgGaagatggtgtcataaagcag	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000444739.2	-	5	1615	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_ENST00000393150.3_Missense_Mutation_p.F179L|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.F235F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483																																						ENST00000444739.2																			1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(703-705)ttC>ttA		caspase 4, apoptosis-related cysteine peptidase							280	231	248					11																	104820346		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104820346G>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.705C>A	11.37:g.104820346G>T	ENSP00000388566:p.Phe235Leu					CASP4_ENST00000393150.3_Missense_Mutation_p.F179L	p.F235L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	5	1615	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	235					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.705C>A	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013534	0.35511	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	0.471	0.16752	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.171913	0.52532	D	0.000069	T	0.25082	0.0609	M	0.73319	2.225	0.20821	N	0.999842	P;P	0.40578	0.722;0.593	B;B	0.44044	0.439;0.233	T	0.10268	-1.0637	10	0.62326	D	0.03	.	7.3478	0.26674	0.5099:0.0:0.4901:0.0	.	235;235	B4E2D2;P49662	.;CASP4_HUMAN	L	235;179;188	ENSP00000388566:F235L;ENSP00000376857:F179L	ENSP00000347741:F188L	F	-	3	2	CASP4	104325556	0.064000	0.20934	0.380000	0.26093	0.105000	0.19272	0.351000	0.20096	0.169000	0.19679	-0.142000	0.14014	TTC		0.483	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		104	484	1	0	4.95557e-46	1	6.08382e-46	104	484					T	104820346	G	T	104820346	3	4	79	1	0	0	0	0	1	0	0	0	2680	1165	41	3	444	3	CASP4	11	104820346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911946	104820346	30186170	12608	22925											
CASP4	837	broad.mit.edu	37	chr11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccagcctccatattcgGatgagctgcaggatattgca	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000444739.2	-	3	1178	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_ENST00000393150.3_Missense_Mutation_p.P34S|CASP4_ENST00000531333.1_Intron	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	90	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCATATTCGGATGAGCTGCA	0.443																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(268-270)Ccg>Tcg		caspase 4, apoptosis-related cysteine peptidase							88	80	83					11																	104822727		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104822727G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.268C>T	11.37:g.104822727G>A	ENSP00000388566:p.Pro90Ser					CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.P34S	p.P90S	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	3	1178	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	90			CARD.		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.268C>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.772249	0.02951	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.07800	4.88;4.52;3.16	3.9	-6.11	0.02131	DEATH-like (1);	1.198120	0.05940	N	0.636805	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.46176	-0.9210	10	0.09590	T	0.72	.	6.0759	0.19915	0.3684:0.2838:0.3478:0.0	.	90;90;90	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	90;34;43;90	ENSP00000388566:P90S;ENSP00000376857:P34S;ENSP00000401673:P90S	ENSP00000347741:P43S	P	-	1	0	CASP4	104327937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.784000	0.04633	-0.969000	0.03573	-0.216000	0.12614	CCG		0.443	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		62	250	0	0	0	1	0	62	250					A	104822727	G	A	104822727	3	1	79	1	0	0	0	0	1	0	0	0	2680	1174	41	2	889	2	CASP4	11	104822727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2381	104822727	30183789	12609	22926											
CASP5	838	broad.mit.edu	37	chr11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtctggcagcaaatgCcctcagcactgactccatat	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000260315.3	-	6	738	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	247					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(778-780)Gca>Aca		caspase 5, apoptosis-related cysteine peptidase							92	83	86					11																	104871201		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871201C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.739G>A	11.37:g.104871201C>T	ENSP00000260315:p.Ala247Thr					CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000260315.3_Missense_Mutation_p.A247T|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000393139.2_3'UTR	p.A260T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	809	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	247					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.778G>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260999	0.10239	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	4.06	-0.909	0.10514	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.945475	0.08952	N	0.870019	T	0.16300	0.0392	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.30033	0.016;0.056;0.266;0.122	B;B;B;B	0.19946	0.013;0.009;0.027;0.016	T	0.29792	-1.0000	10	0.20519	T	0.43	.	7.7663	0.28982	0.0:0.4791:0.0:0.5209	.	105;189;247;260	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	260;105;247;189;260;105	ENSP00000376849:A260T;ENSP00000398130:A105T;ENSP00000260315:A247T;ENSP00000388365:A189T;ENSP00000436877:A260T;ENSP00000434471:A105T	ENSP00000260315:A247T	A	-	1	0	CASP5	104376411	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.648000	0.05391	-0.001000	0.14495	0.205000	0.17691	GCA		0.458	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		44	244	0	0	0	1	0	44	244					T	104871201	C	T	104871201	3	4	79	1	0	0	0	0	1	0	0	0	2681	739	26	2	581	2	CASP5	11	104871201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48474	104871201	30135315	12610	22927											
CASP5	838	broad.mit.edu	37	chr11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatatgatgagagccaggCgtctgcggtcctctctcttt	11	11	3	2	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000260315.3	-	5	577	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CASP5_ENST00000393139.2_Silent_p.T123T|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	193					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(616-618)cGc>cAc		caspase 5, apoptosis-related cysteine peptidase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4402		0,2,2200	129	118	122		404,152,617,578	4	0.2	11	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,missense,missense	CASP5	NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3	29,29,29,29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/377,51/293,206/448,193/435	104872894	2,13000	2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104872894C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.578G>A	11.37:g.104872894C>T	ENSP00000260315:p.Arg193His					CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000260315.3_Missense_Mutation_p.R193H|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000393139.2_Silent_p.T123T	p.R206H	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	5	648	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	193					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.617G>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204119	0.38905	4.54E-4	0.0	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.98	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.988	T	0.72293	-0.4336	10	0.72032	D	0.01	.	13.923	0.63945	0.0:1.0:0.0:0.0	.	51;135;193;206	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	H	206;51;193;135;206;51	ENSP00000376849:R206H;ENSP00000398130:R51H;ENSP00000260315:R193H;ENSP00000388365:R135H;ENSP00000436877:R206H;ENSP00000434471:R51H	ENSP00000260315:R193H	R	-	2	0	CASP5	104378104	0.077000	0.21312	0.156000	0.22583	0.057000	0.15508	1.320000	0.33666	1.942000	0.56320	0.411000	0.27672	CGC		0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		88	445	0	0	0	1	0	88	445					T	104872894	C	T	104872894	3	4	79	1	0	0	0	0	1	0	0	0	2681	768	27	1	746	1	CASP5	11	104872894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1693	104872894	30133622	12611	22928											
CASP5	838	broad.mit.edu	37	chr11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggtactagggtctggataGatgtttgtccagccacgttg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(169-171)tCt>tAt		caspase 5, apoptosis-related cysteine peptidase							150	135	140					11																	104879584		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879584G>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.131C>A	11.37:g.104879584G>T	ENSP00000260315:p.Ser44Tyr					CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.S44Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y	p.S57Y	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	201	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	44			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.170C>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT		0.363	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		57	279	1	0	8.44121e-28	1	9.79253e-28	57	279					T	104879584	G	T	104879584	3	4	79	1	0	0	0	0	1	0	0	0	2681	942	33	3	1205	3	CASP5	11	104879584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	104879584	30126932	12612	22929											
CASP1	834	broad.mit.edu	37	chr11	104900402	104900402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactcaccaccacggcaGgcctggatgatgatcacctt	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000533400.1	-	6	887	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000528974.1_Silent_p.A245A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	284					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CACCACGGCAGGCCTGGATGA	0.418																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(850-852)gcC>gcA		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						89	75	80					11																	104900402		2202	4299	6501	SO:0001819	synonymous_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900402G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.852C>A	11.37:g.104900402G>T						CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A	p.A284A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	887	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	284					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	c.852C>A	CCDS8330.1																																																																																				0.418	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		22	225	1	0	1.22574e-08	1	1.28258e-08	22	225					T	104900402	G	T	104900402	2	4	79	1	0	0	0	0	0	0	0	1	2675	987	35	3		3	CASP1	11	104900402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20818	104900402	30106114	12613	22930											
CARD17	440068	broad.mit.edu	37	chr11	104971328	104971328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctggagcccctttccgAataacagagtcaagcaaagc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	62	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCCTTTCCGAATAACAGAGT	0.473																																						ENST00000375707.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						c.(184-186)atT>atC		caspase recruitment domain family, member 17							150	140	144					11																	104971328		2202	4299	6501	SO:0001819	synonymous_variant	440068							g.chr11:104971328A>G		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.186T>C	11.37:g.104971328A>G						CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron	p.I62I	NM_001007232.1	NP_001007233.1					2	202	-									Silent	SNP	ENST00000375707.1	37	c.186T>C	CCDS31662.1																																																																																				0.473	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		60	601	0	0	0	1	0	60	601					G	104971328	A	G	104971328	2	3	79	1	0	0	0	0	0	0	0	1	2655	242	9	4		4	CARD17	11	104971328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70926	104971328	30035188	12614	22931											
GRIA4	2893	broad.mit.edu	37	chr11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaacaaacagaaattgCctatggaacactggattcag	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000530497.1	+	12	2003	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	668					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACAGAAATTGCCTATGGAACA	0.378																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2002-2004)gCc>gAc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						75	71	72					11																	105797622		2202	4298	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797622C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2003C>A	11.37:g.105797622C>A	ENSP00000435775:p.Ala668Asp					GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000530497.1_Missense_Mutation_p.A668D	p.A668D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2449	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	668					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2003C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178614	0.94846	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.67	5.67	0.87782	Ionotropic glutamate receptor (2);	0.072305	0.64402	D	0.000020	T	0.51415	0.1673	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75484	0.824;0.986	T	0.49826	-0.8898	10	0.59425	D	0.04	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	668;668	P48058;G3V164	GRIA4_HUMAN;.	D	668	ENSP00000282499:A668D;ENSP00000376835:A668D;ENSP00000435775:A668D;ENSP00000432180:A668D	ENSP00000282499:A668D	A	+	2	0	GRIA4	105302832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	GCC		0.378	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			25	265	1	0	7.33532e-06	1	7.53121e-06	25	265					A	105797622	C	A	105797622	3	1	79	1	0	0	0	0	1	0	0	0	6800	739	26	3	2086	3	GRIA4	11	105797622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826294	105797622	29208894	12615	22932											
KBTBD3	143879	broad.mit.edu	37	chr11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataactgatgtatgcatggTtcttggtgttttcatagttg	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	390										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTATGCATGGTTCTTGGTGTT	0.388																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1180-1182)Acc>Gcc		kelch repeat and BTB (POZ) domain containing 3							88	84	86					11																	105924236		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924236T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1180A>G	11.37:g.105924236T>C	ENSP00000436262:p.Thr394Ala					KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A|KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A	p.T394A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1339	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	390					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1180A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592241	0.66219	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.31294	0.92	0.58432	D	0.999997	D;P	0.69078	0.997;0.905	D;P	0.69142	0.962;0.642	T	0.81252	-0.1017	10	0.39692	T	0.17	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	394;390	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	315;394;394	ENSP00000431910:T315A;ENSP00000436262:T394A;ENSP00000432163:T394A	ENSP00000436262:T394A	T	-	1	0	KBTBD3	105429446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACC		0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		33	145	0	0	0	1	0	33	145					C	105924236	T	C	105924236	3	2	79	1	0	0	0	0	1	0	0	0	8024	1725	60	4	662	4	KBTBD3	11	105924236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126614	105924236	29082280	12616	22933											
KBTBD3	143879	broad.mit.edu	37	chr11	105929591	105929591	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatagacaaggtaaagtaCctgaaaaagtcactgcatgc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000531482.2	-	1	247		c.e1+1		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000526793.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3											NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGTAAAGTACCTGAAAAAGT	0.323																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.e2+1		kelch repeat and BTB (POZ) domain containing 3							77	74	75					11																	105929591		2201	4298	6499	SO:0001630	splice_region_variant	143879							g.chr11:105929591C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.233+1G>T	11.37:g.105929591C>A						KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Splice_Site|KBTBD3_ENST00000531837.1_Splice_Site		NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	393	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)						Q6N066|Q86X38|Q96NK5	Splice_Site	SNP	ENST00000531482.2	37			.	.	.	.	.	.	.	.	.	.	C	20.4	3.985867	0.74589	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KBTBD3	105434801	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	.		0.323	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433	Intron	28	148	1	0	6.38683e-12	1	6.83756e-12	28	148					A	105929591	C	A	105929591	5	1	79	1	0	0	0	0	0	0	1	0	8024	521	18	3	1612	3	KBTBD3	11	105929591	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	105929591	29076925	12617	22934											
AASDHPPT	60496	broad.mit.edu	37	chr11	105950319	105950319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcatcgaatccttacccGaatttcaactttaacatctc	3	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	103					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393																																						ENST00000278618.4																			1	Substitution - coding silent(1)	p.P103P(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(307-309)ccG>ccA		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							110	109	109					11																	105950319		2201	4299	6500	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105950319G>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.309G>A	11.37:g.105950319G>A							p.P103P	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	2	531	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	103					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.309G>A	CCDS31664.1																																																																																				0.393	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		65	310	0	0	0	1	0	65	310					A	105950319	G	A	105950319	2	1	79	1	0	0	0	0	0	0	0	1	23	1045	37	1		1	AASDHPPT	11	105950319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20728	105950319	29056197	12618	22935											
CWF19L2	143884	broad.mit.edu	37	chr11	107309826	107309826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagaaatacctttagtaatCgatgacacactacagtcttc	6	9	1	2	rs201136952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTTAGTAATCGATGACACAC	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13512	0.0		0.0	False		,,,				2504	0.0					ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(652-654)tcG>tcA		CWF19-like 2, cell cycle control (S. pombe)							78	67	71					11																	107309826		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107309826C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.654G>A	11.37:g.107309826C>T						CWF19L2_ENST00000433523.1_Silent_p.S218S	p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	6	681	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	218					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.654G>A	CCDS8336.2																																																																																				0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		17	89	0	0	0	1	0	17	89					T	107309826	C	T	107309826	2	4	79	1	0	0	0	0	0	0	0	1	4083	871	31	1		1	CWF19L2	11	107309826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359507	107309826	27696690	12619	22936											
ELMOD1	55531	broad.mit.edu	37	chr11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtatgcctgtatttttaCtgtaaatttctgtggcgctg	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000265840.7	+	3	313	c.48C>A	c.(46-48)taC>taA	p.Y16*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	16					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			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)		TGTATTTTTACTGTAAATTTC	0.428																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(46-48)taC>taA		ELMO/CED-12 domain containing 1							60	53	55					11																	107501173		1851	4091	5942	SO:0001587	stop_gained	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501173C>A	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.48C>A	11.37:g.107501173C>A	ENSP00000265840:p.Tyr16*					ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	p.Y16*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	313	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	16					B4E167|G5E9S5|Q9NPW3	Nonsense_Mutation	SNP	ENST00000265840.7	37	c.48C>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	37	6.384358	0.97524	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	2.56	0.30785	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8347	0.40963	0.0:0.7197:0.0:0.2803	.	.	.	.	X	10;16;16	.	ENSP00000265840:Y16X	Y	+	3	2	ELMOD1	107006383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.393000	0.44442	0.272000	0.22027	0.655000	0.94253	TAC		0.428	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		10	44	1	0	7.48243e-07	1	7.73841e-07	10	44					A	107501173	C	A	107501173	4	1	79	1	0	0	0	0	0	1	0	0	5086	576	20	3	54	3	ELMOD1	11	107501173	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191347	107501173	27505343	12620	22937											
ELMOD1	55531	broad.mit.edu	37	chr11	107535879	107535879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaacccagacatggcgCtgtgcccacattttgctgcc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000265840.7	+	12	1226	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	321					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			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)		AGACATGGCGCTGTGCCCACA	0.478																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(961-963)Ctg>Ttg		ELMO/CED-12 domain containing 1							131	139	137					11																	107535879		2062	4204	6266	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535879C>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.961C>T	11.37:g.107535879C>T						ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	p.L321L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1226	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	321					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.961C>T	CCDS44723.1																																																																																				0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		129	558	0	0	0	1	0	129	558					T	107535879	C	T	107535879	2	4	79	1	0	0	0	0	0	0	0	1	5086	796	28	2		2	ELMOD1	11	107535879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34706	107535879	27470637	12621	22938											
SLC35F2	54733	broad.mit.edu	37	chr11	107682519	107682519	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactaaaaggttatcactGcctggttgaaagaaatatgg	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525815.1	-	3	708	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525071.1_Splice_Site_p.G96G	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	96					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e6-1		solute carrier family 35, member F2							161	147	151					11																	107682519		1849	4091	5940	SO:0001630	splice_region_variant	54733				transport	integral to membrane		g.chr11:107682519G>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.287-1C>T	11.37:g.107682519G>A						SLC35F2_ENST00000375682.4_Splice_Site_p.G49_splice|SLC35F2_ENST00000525815.1_Splice_Site_p.G96_splice|SLC35F2_ENST00000429869.1_Splice_Site_p.G96_splice|SLC35F2_ENST00000265836.7_5'UTR	p.G96_splice			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	6	876	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	96					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Splice_Site	SNP	ENST00000525815.1	37	c.286_splice	CCDS41709.1																																																																																				0.368	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	Silent	87	421	0	0	0	1	0	87	421					A	107682519	G	A	107682519	5	1	79	1	0	0	0	0	0	0	1	0	14639	1333	46	2	860	2	SLC35F2	11	107682519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146640	107682519	27323997	12622	22939											
CUL5	8065	broad.mit.edu	37	chr11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtgcaatgaagctggtaCatgctgagagattgggagaa	14	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	164					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(490-492)Cat>Tat		cullin 5							113	111	112					11																	107923465		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107923465C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.490C>T	11.37:g.107923465C>T	ENSP00000376808:p.His164Tyr						p.H164Y	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	5	1106	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	164					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.490C>T	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159761|3.159761	0.57368|0.57368	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|.	0.30448|.	1.53|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.71474|0.71474	-0.4582|-0.4582	10|5	0.59425|.	D|.	0.04|.	-15.6841|-15.6841	19.6572|19.6572	0.95847|0.95847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164|.	Q93034|.	CUL5_HUMAN|.	Y|I	164|60	ENSP00000376808:H164Y|.	ENSP00000376808:H164Y|.	H|T	+|+	1|2	0|0	CUL5|CUL5	107428675|107428675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.786000|7.786000	0.85741|0.85741	2.651000|2.651000	0.90000|0.90000	0.549000|0.549000	0.68633|0.68633	CAT|ACA		0.353	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			22	150	0	0	0	1	0	22	150					T	107923465	C	T	107923465	3	4	79	1	0	0	0	0	1	0	0	0	4070	478	17	2	508	2	CUL5	11	107923465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240946	107923465	27083051	12623	22940											
ACAT1	38	broad.mit.edu	37	chr11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgggaagtaaatgaagCctttagtctggttgtactag	12	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	355					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1063-1065)gCc>gTc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						150	172	164					11																	108016987		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108016987C>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1064C>T	11.37:g.108016987C>T	ENSP00000265838:p.Ala355Val						p.A355V	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	11	1155	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	355					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.1064C>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515935	0.96402	.	.	ENSG00000075239	ENST00000265838	D	0.96619	-4.07	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-6.009	20.1986	0.98248	0.0:1.0:0.0:0.0	.	355	P24752	THIL_HUMAN	V	355	ENSP00000265838:A355V	ENSP00000265838:A355V	A	+	2	0	ACAT1	107522197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.584000	0.82572	2.781000	0.95711	0.650000	0.86243	GCC		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		27	604	0	0	0	1	0	27	604					T	108016987	C	T	108016987	3	4	79	1	0	0	0	0	1	0	0	0	121	739	26	2	1106	2	ACAT1	11	108016987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93522	108016987	26989529	12624	22941											
ACAT1	38	broad.mit.edu	37	chr11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggaggaggtgcttctGccatgctaattcagaagctg	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	421					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1261-1263)Gcc>Acc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						140	124	129					11																	108018094		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108018094G>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1261G>A	11.37:g.108018094G>A	ENSP00000265838:p.Ala421Thr						p.A421T	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	12	1352	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	421					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.1261G>A	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553242	0.86127	.	.	ENSG00000075239	ENST00000265838	D	0.95238	-3.65	5.57	5.57	0.84162	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.187217	0.47852	D	0.000220	D	0.95424	0.8514	M	0.68317	2.08	0.80722	D	1	P	0.42483	0.781	P	0.47673	0.554	D	0.95388	0.8479	10	0.66056	D	0.02	-18.7742	19.9215	0.97087	0.0:0.0:1.0:0.0	.	421	P24752	THIL_HUMAN	T	421	ENSP00000265838:A421T	ENSP00000265838:A421T	A	+	1	0	ACAT1	107523304	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	3.857000	0.55972	2.785000	0.95823	0.655000	0.94253	GCC		0.478	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		63	336	0	0	0	1	0	63	336					A	108018094	G	A	108018094	3	1	79	1	0	0	0	0	1	0	0	0	121	1319	46	2	1307	2	ACAT1	11	108018094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1107	108018094	26988422	12625	22942											
NPAT	4863	broad.mit.edu	37	chr11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacagcaaatacactgTttgaccttggtggtgtctgt	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	913					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2737-2739)aAc>aGc		nuclear protein, ataxia-telangiectasia locus							236	219	224					11																	108042973		1965	4148	6113	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108042973T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2738A>G	11.37:g.108042973T>C	ENSP00000278612:p.Asn913Ser						p.N913S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2843	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	913					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2738A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843028	0.16963	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.83	0.92	0.19397	.	0.310876	0.32952	N	0.005447	T	0.04452	0.0122	L	0.50919	1.6	0.24433	N	0.994562	B;B	0.20052	0.018;0.041	B;B	0.16722	0.016;0.011	T	0.39057	-0.9632	10	0.26408	T	0.33	-6.4258	5.5292	0.16974	0.1229:0.2474:0.0:0.6297	.	913;913	B9EG70;Q14207	.;NPAT_HUMAN	S	913	ENSP00000278612:N913S	ENSP00000278612:N913S	N	-	2	0	NPAT	107548183	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	0.607000	0.24209	0.113000	0.18004	0.533000	0.62120	AAC		0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		147	739	0	0	0	1	0	147	739					C	108042973	T	C	108042973	3	2	79	1	0	0	0	0	1	0	0	0	10608	1725	60	4	1569	4	NPAT	11	108042973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24879	108042973	26963543	12626	22943											
NPAT	4863	broad.mit.edu	37	chr11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtattttgggactcagGgtgagaatctcccactgaag	11	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	715					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2143-2145)Cct>Tct		nuclear protein, ataxia-telangiectasia locus							107	98	101					11																	108043568		1887	4119	6006	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043568G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2143C>T	11.37:g.108043568G>A	ENSP00000278612:p.Pro715Ser						p.P715S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2248	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	715					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2143C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692611	0.03303	.	.	ENSG00000149308	ENST00000278612	T	0.04809	3.55	6.08	-1.87	0.07737	.	0.545184	0.20071	N	0.099871	T	0.04679	0.0127	M	0.61703	1.905	0.09310	N	1	B;B	0.18610	0.023;0.029	B;B	0.17433	0.007;0.018	T	0.32079	-0.9920	10	0.38643	T	0.18	-0.4422	3.389	0.07282	0.1734:0.2359:0.4498:0.1409	.	715;715	B9EG70;Q14207	.;NPAT_HUMAN	S	715	ENSP00000278612:P715S	ENSP00000278612:P715S	P	-	1	0	NPAT	107548778	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	-0.179000	0.09768	-0.035000	0.13691	-0.768000	0.03414	CCT		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		54	333	0	0	0	1	0	54	333					A	108043568	G	A	108043568	3	1	79	1	0	0	0	0	1	0	0	0	10608	1232	43	2	2164	2	NPAT	11	108043568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	595	108043568	26962948	12627	22944											
NPAT	4863	broad.mit.edu	37	chr11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttaatgggtcatcaTtctgataggatgtacaaaaa	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	392					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(1174-1176)aAt>aGt		nuclear protein, ataxia-telangiectasia locus							108	98	101					11																	108044536		1881	4101	5982	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044536T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1175A>G	11.37:g.108044536T>C	ENSP00000278612:p.Asn392Ser						p.N392S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1280	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	392					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1175A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.698758	0.00725	.	.	ENSG00000149308	ENST00000278612	T	0.03951	3.75	5.67	1.76	0.24704	.	0.510538	0.20492	N	0.091278	T	0.02767	0.0083	L	0.36672	1.1	0.24006	N	0.99619	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.45279	-0.9272	10	0.06365	T	0.9	-14.1273	0.9102	0.01293	0.1478:0.1741:0.1959:0.4822	.	392;392	B9EG70;Q14207	.;NPAT_HUMAN	S	392	ENSP00000278612:N392S	ENSP00000278612:N392S	N	-	2	0	NPAT	107549746	1.000000	0.71417	0.985000	0.45067	0.020000	0.10135	0.889000	0.28282	0.517000	0.28361	0.528000	0.53228	AAT		0.398	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		41	289	0	0	0	1	0	41	289					C	108044536	T	C	108044536	3	2	79	1	0	0	0	0	1	0	0	0	10608	1493	52	4	3132	4	NPAT	11	108044536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	968	108044536	26961980	12628	22945											
ATM	472	broad.mit.edu	37	chr11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgtgcttagaaaatcCtgcggtcatcatgcagacct	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000452508.2	+	49	7247	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	ATM_ENST00000278616.4_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2353	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAGAAAATCCTGCGGTCATC	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7057-7059)cCt>cAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							88	81	83					11																	108198454		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108198454C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7058C>A	11.37:g.108198454C>A	ENSP00000388058:p.Pro2353His	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron	p.P2353H	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	48	7443	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2353			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7058C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915849	0.92178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70986	-0.53;-0.53	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86843	0.2018	10	0.87932	D	0	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	H	2353	ENSP00000278616:P2353H;ENSP00000388058:P2353H	ENSP00000278616:P2353H	P	+	2	0	ATM	107703664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		36	173	1	0	3.93418e-24	1	4.48831e-24	36	173					A	108198454	C	A	108198454	3	1	79	1	0	0	0	0	1	0	0	0	1110	681	24	3	7244	3	ATM	11	108198454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153918	108198454	26808062	12629	22946											
ATM	472	broad.mit.edu	37	chr11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgtgcactgaaagaggatCgtaaacgcttcttatgtaaa	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000452508.2	+	51	7564	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	ATM_ENST00000278616.4_Missense_Mutation_p.R2459C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2459	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAAGAGGATCGTAAACGCTT	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7375-7377)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							125	128	127					11																	108201008		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108201008C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7375C>T	11.37:g.108201008C>T	ENSP00000388058:p.Arg2459Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R2459C|C11orf65_ENST00000525729.1_Intron	p.R2459C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7760	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2459			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7375C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749141	0.69533	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.048185	0.85682	D	0.000000	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90611	0.4552	10	0.87932	D	0	.	12.1357	0.53970	0.1713:0.8287:0.0:0.0	.	2459	Q13315	ATM_HUMAN	C	2459	ENSP00000278616:R2459C;ENSP00000388058:R2459C	ENSP00000278616:R2459C	R	+	1	0	ATM	107706218	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.303000	0.33470	2.293000	0.77203	0.561000	0.74099	CGT		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		74	308	0	0	0	1	0	74	308					T	108201008	C	T	108201008	3	4	79	1	0	0	0	0	1	0	0	0	1110	884	31	1	7569	1	ATM	11	108201008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	108201008	26805508	12630	22947											
ATM	472	broad.mit.edu	37	chr11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccattggtgaatttcTtgttaacaatgaagatggtg	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2780	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGTGAATTTCTTGTTAACAAT	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8338-8340)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							151	137	142					11																	108214019		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108214019T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8339T>G	11.37:g.108214019T>G	ENSP00000388058:p.Leu2780Arg	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron	p.L2780R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8724	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2780			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8339T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	ATM	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		134	603	0	0	0	1	0	134	603					G	108214019	T	G	108214019	3	3	79	1	0	0	0	0	1	0	0	0	1110	1609	56	4	8561	4	ATM	11	108214019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13011	108214019	26792497	12631	22948											
ATM	472	broad.mit.edu	37	chr11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctagatgctgtgagaaaaCcatggaagtgatgagaaact	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000452508.2	+	62	8990	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2934	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTGAGAAAACCATGGAAGTG	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8800-8802)aCc>aTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							186	195	192					11																	108225552		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108225552C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8801C>T	11.37:g.108225552C>T	ENSP00000388058:p.Thr2934Ile	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.T2934I|C11orf65_ENST00000525729.1_Intron	p.T2934I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	61	9186	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2934			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8801C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033991	0.93575	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86991	0.2110	10	0.54805	T	0.06	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	2934	Q13315	ATM_HUMAN	I	2934	ENSP00000278616:T2934I;ENSP00000388058:T2934I	ENSP00000278616:T2934I	T	+	2	0	ATM	107730762	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.789000	0.85783	2.704000	0.92352	0.467000	0.42956	ACC		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		92	523	0	0	0	1	0	92	523					T	108225552	C	T	108225552	3	4	79	1	0	0	0	0	1	0	0	0	1110	507	18	2	9039	2	ATM	11	108225552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11533	108225552	26780964	12632	22949											
KDELC2	143888	broad.mit.edu	37	chr11	108356977	108356977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaacatggttattgagaatCgtgtaatgaacaatggcacc	9	6	0	2	rs145604569	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000323468.5	-	3	656	c.591G>A	c.(589-591)acG>acA	p.T197T	KDELC2_ENST00000375648.1_Silent_p.T141T|KDELC2_ENST00000434945.2_Silent_p.T141T|KDELC2_ENST00000532730.1_5'Flank	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	197						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TATTGAGAATCGTGTAATGAA	0.398													C|||	10	0.00199681	0.0	0.0	5008	,	,		19490	0.0099		0.0	False		,,,				2504	0.0					ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(421-423)acG>acA		KDEL (Lys-Asp-Glu-Leu) containing 2							182	164	170					11																	108356977		1858	4092	5950	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108356977C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.591G>A	11.37:g.108356977C>T						KDELC2_ENST00000323468.5_Silent_p.T197T|KDELC2_ENST00000375648.1_Silent_p.T141T	p.T141T			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	725	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	197					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.423G>A	CCDS41711.1																																																																																				0.398	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		94	435	0	0	0	1	0	94	435					T	108356977	C	T	108356977	2	4	79	1	0	0	0	0	0	0	0	1	8148	871	31	1		1	KDELC2	11	108356977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131425	108356977	26649539	12633	22950											
EXPH5	23086	broad.mit.edu	37	chr11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctgaaaaaatctctctaGctttagattcctcttcagga	5	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1363					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTCTCTAGCTTTAGATTC	0.413																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4087-4089)gCt>gAt		exophilin 5							40	41	41					11																	108382146		2199	4294	6493	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382146G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4088C>A	11.37:g.108382146G>T	ENSP00000265843:p.Ala1363Asp					EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D	p.A1363D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4198	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1363					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4088C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090475	0.36855	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04406	4.17;4.09;3.94;4.17;4.01;3.63	5.68	2.77	0.32553	.	0.962804	0.08651	N	0.914056	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.50004	-0.8878	10	0.30078	T	0.28	-0.0054	7.8658	0.29537	0.1439:0.1312:0.7249:0.0	.	1363	Q8NEV8	EXPH5_HUMAN	D	1363;1287;1175;1356;1287;1175	ENSP00000265843:A1363D;ENSP00000391966:A1287D;ENSP00000411390:A1175D;ENSP00000432546:A1356D;ENSP00000432683:A1287D;ENSP00000446434:A1175D	ENSP00000265843:A1363D	A	-	2	0	EXPH5	107887356	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.987000	0.29603	0.411000	0.25702	-0.216000	0.12614	GCT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		14	203	1	0	1.49906e-05	1	1.53515e-05	14	203					T	108382146	G	T	108382146	3	4	79	1	0	0	0	0	1	0	0	0	5340	971	34	3	1885	3	EXPH5	11	108382146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25169	108382146	26624370	12634	22951											
EXPH5	23086	broad.mit.edu	37	chr11	108383192	108383192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaataaattgtgtcaagTtcagaaactttggaattgct	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.E826E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1014					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTGTCAAGTTCAGAAACTT	0.383																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3040-3042)gaA>gaG		exophilin 5							89	83	85					11																	108383192		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383192T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3042A>G	11.37:g.108383192T>C						EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E	p.E1014E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3152	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1014					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3042A>G	CCDS8341.1																																																																																				0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		67	283	0	0	0	1	0	67	283					C	108383192	T	C	108383192	2	2	79	1	0	0	0	0	0	0	0	1	5340	1722	60	4		4	EXPH5	11	108383192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	108383192	26623324	12635	22952											
DDX10	1662	broad.mit.edu	37	chr11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctattttagctcaagatcAagatttaaaagaaagagctc	6	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000322536.3	+	11	1514	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000526794.1_Missense_Mutation_p.Q462P	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	462					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAAGATCAAGATTTAAAA	0.289			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1384-1386)cAa>cCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							31	32	32					11																	108586668		2199	4291	6490	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108586668A>C	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1385A>C	11.37:g.108586668A>C	ENSP00000314348:p.Gln462Pro					DDX10_ENST00000322536.3_Missense_Mutation_p.Q462P	p.Q462P			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	11	1417	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	462					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1385A>C	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779047	0.31502	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.38887	1.12;1.11	6.04	2.42	0.29668	.	0.215941	0.48767	D	0.000166	T	0.17662	0.0424	N	0.03071	-0.42	0.44539	D	0.997495	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.04961	-1.0915	10	0.23891	T	0.37	-2.9721	9.8661	0.41145	0.8031:0.0:0.1969:0.0	.	462;462	Q13206;E9PIF2	DDX10_HUMAN;.	P	462;368;462	ENSP00000314348:Q462P;ENSP00000432032:Q462P	ENSP00000314348:Q462P	Q	+	2	0	DDX10	108091878	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.048000	0.49862	0.162000	0.19483	0.528000	0.53228	CAA		0.289	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		18	76	0	0	0	1	0	18	76					C	108586668	A	C	108586668	3	2	79	1	0	0	0	0	1	0	0	0	4353	130	5	4	1427	4	DDX10	11	108586668	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203476	108586668	26419848	12636	22953											
DDX10	1662	broad.mit.edu	37	chr11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagaatttagagcctaCttcaatgagaaaatgtccat	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000322536.3	+	13	1782	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.Y551*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	551					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTAGAGCCTACTTCAATGAGA	0.438			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1651-1653)taC>taA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64	64	64					11																	108593877		2201	4298	6499	SO:0001587	stop_gained	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108593877C>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1653C>A	11.37:g.108593877C>A	ENSP00000314348:p.Tyr551*					DDX10_ENST00000322536.3_Nonsense_Mutation_p.Y551*	p.Y551*			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	13	1685	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	551					B2RCQ3|Q5BJD8	Nonsense_Mutation	SNP	ENST00000322536.3	37	c.1653C>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993494	0.97184	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	-1.34	0.09143	.	0.632853	0.16915	N	0.194340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.0433	5.9796	0.19399	0.0:0.4737:0.1559:0.3705	.	.	.	.	X	551;457;551	.	ENSP00000314348:Y551X	Y	+	3	2	DDX10	108099087	0.936000	0.31750	0.987000	0.45799	0.852000	0.48524	0.575000	0.23729	-0.070000	0.12908	0.484000	0.47621	TAC		0.438	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		39	175	1	0	5.71845e-15	1	6.23116e-15	39	175					A	108593877	C	A	108593877	4	1	79	1	0	0	0	0	0	1	0	0	4353	576	20	3	1703	3	DDX10	11	108593877	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7209	108593877	26412639	12637	22954											
DDX10	1662	broad.mit.edu	37	chr11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctaaatccagcatcaAgaaaaaaatgaccaaagttg	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000322536.3	+	14	2123	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000526794.1_Missense_Mutation_p.K665R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	665					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCAGCATCAAGAAAAAAATG	0.323			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1993-1995)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64	70	68					11																	108709201		2201	4297	6498	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108709201A>G	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1994A>G	11.37:g.108709201A>G	ENSP00000314348:p.Lys665Arg					DDX10_ENST00000322536.3_Missense_Mutation_p.K665R	p.K665R			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	14	2026	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	665					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1994A>G	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538758	0.65085	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46819	0.86;0.87	5.72	5.72	0.89469	.	0.243433	0.35615	N	0.003099	T	0.56558	0.1993	M	0.64404	1.975	0.45318	D	0.998318	D;P	0.56521	0.976;0.877	P;B	0.52598	0.703;0.197	T	0.58584	-0.7611	10	0.48119	T	0.1	-11.3921	13.3722	0.60719	1.0:0.0:0.0:0.0	.	665;665	Q13206;E9PIF2	DDX10_HUMAN;.	R	665;571;665	ENSP00000314348:K665R;ENSP00000432032:K665R	ENSP00000314348:K665R	K	+	2	0	DDX10	108214411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.130000	0.57964	2.176000	0.68965	0.528000	0.53228	AAG		0.323	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		63	258	0	0	0	1	0	63	258					G	108709201	A	G	108709201	3	3	79	1	0	0	0	0	1	0	0	0	4353	72	3	4	2048	4	DDX10	11	108709201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115324	108709201	26297315	12638	22955											
C11orf87	399947	broad.mit.edu	37	chr11	109294503	109294503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcacctgcatcacGcaggtgggacagcagctctt	14	13	2	0	rs558968039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(142-144)acG>acT		chromosome 11 open reading frame 87							128	101	110					11																	109294503		2201	4298	6499	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294503G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.144G>T	11.37:g.109294503G>T						RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.T48T	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	547	+			48					B4E169	Silent	SNP	ENST00000327419.6	37	c.144G>T	CCDS31672.1																																																																																				0.637	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		23	224	1	0	3.5997e-14	1	3.90403e-14	23	224					T	109294503	G	T	109294503	2	4	79	1	0	0	0	0	0	0	0	1	1674	1074	38	3		3	C11orf87	11	109294503	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585302	109294503	25712013	12639	22956											
ZC3H12C	85463	broad.mit.edu	37	chr11	110007429	110007429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatacagaaaaaacagCaaagtggagtcaagtacacg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000278590.3	+	2	114	c.63C>T	c.(61-63)agC>agT	p.S21S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	21							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAACAGCAAAGTGGAGT	0.408																																						ENST00000278590.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(61-63)agC>agT		zinc finger CCCH-type containing 12C							91	91	91					11																	110007429		1965	4147	6112	SO:0001819	synonymous_variant	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110007429C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.63C>T	11.37:g.110007429C>T						ZC3H12C_ENST00000528673.1_Silent_p.S22S|ZC3H12C_ENST00000453089.2_5'UTR	p.S21S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	2	114	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	21					B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	c.63C>T	CCDS44727.1																																																																																				0.408	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		13	310	0	0	0	1	0	13	310					T	110007429	C	T	110007429	2	4	79	1	0	0	0	0	0	0	0	1	17616	709	25	2		2	ZC3H12C	11	110007429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	712926	110007429	24999087	12640	22957											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactccgctgtgggcgcccGgtccagctgtcctggcgact	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000278590.3	+	6	2204	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	718							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGGGCGCCCGGTCCAGCTGT	0.592																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2059-2061)cGg>cAg		zinc finger CCCH-type containing 12C							141	161	154					11																	110035963		2144	4233	6377	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035963G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2153G>A	11.37:g.110035963G>A	ENSP00000278590:p.Arg718Gln					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R718Q	p.R687Q			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2941	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	718					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2060G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909367	0.92107	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37584	1.19;1.19;1.21	5.94	5.94	0.96194	.	0.249928	0.40144	N	0.001167	T	0.60932	0.2307	M	0.68593	2.085	0.43703	D	0.996161	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.978;0.978	T	0.55617	-0.8113	10	0.44086	T	0.13	-20.721	20.3591	0.98849	0.0:0.0:1.0:0.0	.	719;718;718	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	718;719;687	ENSP00000278590:R718Q;ENSP00000431821:R719Q;ENSP00000413094:R687Q	ENSP00000278590:R718Q	R	+	2	0	ZC3H12C	109541173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.331000	0.72929	2.816000	0.96949	0.561000	0.74099	CGG		0.592	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		239	1018	0	0	0	1	0	239	1018					A	110035963	G	A	110035963	3	1	79	1	0	0	0	0	1	0	0	0	17616	1116	39	1	2175	1	ZC3H12C	11	110035963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28534	110035963	24970553	12641	22958											
RDX	5962	broad.mit.edu	37	chr11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccttcatctgttgtactTcaatagtatcaggcttcctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000343115.4	-	9	1221	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.E301G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	301					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(901-903)gAa>gGa		radixin							124	108	113					11																	110124728		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124728T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.902A>G	11.37:g.110124728T>C	ENSP00000342830:p.Glu301Gly					RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G	p.E301G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1221	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	301					A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.902A>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661312	0.67700	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.974	D	0.94672	0.7857	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	165;301;301	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	G	301;301;301;301;165	ENSP00000432112:E301G;ENSP00000384136:E301G;ENSP00000342830:E301G;ENSP00000445826:E165G	ENSP00000342830:E301G	E	-	2	0	RDX	109629938	1.000000	0.71417	0.689000	0.30133	0.065000	0.16274	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	GAA		0.418	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		66	314	0	0	0	1	0	66	314					C	110124728	T	C	110124728	3	2	79	1	0	0	0	0	1	0	0	0	13248	1783	62	4	873	4	RDX	11	110124728	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88765	110124728	24881788	12642	22959											
RDX	5962	broad.mit.edu	37	chr11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaacacctagccacaAttcagttccttttttatttt	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000343115.4	-	7	965	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L216V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	216	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(646-648)Ttg>Gtg		radixin							115	117	116					11																	110128544		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110128544A>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.646T>G	11.37:g.110128544A>C	ENSP00000342830:p.Leu216Val					RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V	p.L216V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	7	965	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	216			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.646T>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871122	0.51695	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.32	1.79	0.24919	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.91019	0.7175	L	0.56124	1.755	0.58432	D	0.999992	B;D;B	0.67145	0.129;0.996;0.037	B;D;P	0.91635	0.099;0.999;0.461	D	0.87955	0.2726	10	0.52906	T	0.07	.	8.0771	0.30722	0.6908:0.0:0.3092:0.0	.	80;216;216	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	216;216;216;216;80;35	ENSP00000432112:L216V;ENSP00000384136:L216V;ENSP00000342830:L216V;ENSP00000445826:L80V;ENSP00000431560:L35V	ENSP00000342830:L216V	L	-	1	2	RDX	109633754	0.982000	0.34865	0.995000	0.50966	0.988000	0.76386	1.566000	0.36396	0.056000	0.16144	-0.280000	0.10049	TTG		0.348	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		111	451	0	0	0	1	0	111	451					C	110128544	A	C	110128544	3	2	79	1	0	0	0	0	1	0	0	0	13248	98	4	4	1137	4	RDX	11	110128544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3816	110128544	24877972	12643	22960											
FDX1	2230	broad.mit.edu	37	chr11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaaccctggcttgttcaAcctgtcacctcatctttgaa	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	114	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438																																						ENST00000260270.2																			0				lung(2)	2						c.(340-342)Acc>Gcc		ferredoxin 1	Mitotane(DB00648)						327	271	290					11																	110327671		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327671A>G	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"adrenodoxin"	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.340A>G	11.37:g.110327671A>G	ENSP00000260270:p.Thr114Ala						p.T114A	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	578	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	114			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.340A>G	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409904	0.83340	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	15.2051	0.73173	1.0:0.0:0.0:0.0	.	114	P10109	ADX_HUMAN	A	114	.	ENSP00000260270:T114A	T	+	1	0	FDX1	109832881	1.000000	0.71417	0.868000	0.34077	0.741000	0.42261	7.136000	0.77285	2.075000	0.62263	0.459000	0.35465	ACC		0.438	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		205	892	0	0	0	1	0	205	892					G	110327671	A	G	110327671	3	3	79	1	0	0	0	0	1	0	0	0	5829	43	2	4	350	4	FDX1	11	110327671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199127	110327671	24678845	12644	22961											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttgagataatcctcctctCcatgcaagagaccagcttca	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000260283.4	-	16	2923	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	880					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATCCTCCTCTCCATGCAAGAG	0.453																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2638-2640)gGa>gTa		Rho GTPase activating protein 20							136	134	134					11																	110451031		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451031C>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2639G>T	11.37:g.110451031C>A	ENSP00000260283:p.Gly880Val					ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V	p.G880V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2923	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	880					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2639G>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118057	0.37339	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08984	3.03;3.04;3.07;3.03;3.04;3.04;3.04	5.14	2.18	0.27775	.	0.614672	0.15386	N	0.265082	T	0.16599	0.0399	M	0.65975	2.015	0.22001	N	0.999421	D;D;D	0.69078	0.997;0.996;0.997	D;P;D	0.64595	0.927;0.847;0.927	T	0.17837	-1.0356	10	0.27082	T	0.32	.	1.1436	0.01770	0.1462:0.3626:0.1419:0.3493	.	854;880;857	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	880;854;423;857;844;854;844	ENSP00000260283:G880V;ENSP00000349660:G854V;ENSP00000437905:G423V;ENSP00000432076:G857V;ENSP00000436319:G844V;ENSP00000436522:G854V;ENSP00000431399:G844V	ENSP00000260283:G880V	G	-	2	0	ARHGAP20	109956241	0.065000	0.20965	0.069000	0.20011	0.962000	0.63368	0.363000	0.20301	0.304000	0.22809	-1.105000	0.02106	GGA		0.453	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		168	637	1	0	1.32648e-55	1	1.65864e-55	168	637					A	110451031	C	A	110451031	3	1	79	1	0	0	0	0	1	0	0	0	870	855	30	3	940	3	ARHGAP20	11	110451031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123360	110451031	24555485	12645	22962											
ARHGAP20	57569	broad.mit.edu	37	chr11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggaggccaaagaaTacttggagcgacacacacag	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000260283.4	-	14	1833	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	517	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGCCAAAGAATACTTGGAGCG	0.418																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(1549-1551)Att>Gtt		Rho GTPase activating protein 20							130	115	120					11																	110454328		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110454328T>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1549A>G	11.37:g.110454328T>C	ENSP00000260283:p.Ile517Val					ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V	p.I517V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	14	1833	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	517			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1549A>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435130	0.43224	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.85;0.84;0.84;0.84;0.84	5.78	0.592	0.17471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.330773	0.30043	N	0.010550	T	0.42154	0.1190	L	0.46819	1.47	0.27901	N	0.938968	B;B;B	0.33044	0.395;0.281;0.238	B;B;B	0.43360	0.293;0.417;0.341	T	0.40924	-0.9537	10	0.59425	D	0.04	.	3.8261	0.08855	0.1027:0.1344:0.444:0.3189	.	491;517;494	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	517;491;60;494;481;491;481	ENSP00000260283:I517V;ENSP00000349660:I491V;ENSP00000437905:I60V;ENSP00000432076:I494V;ENSP00000436319:I481V;ENSP00000436522:I491V;ENSP00000431399:I481V	ENSP00000260283:I517V	I	-	1	0	ARHGAP20	109959538	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	0.963000	0.29293	-0.073000	0.12842	-0.326000	0.08463	ATT		0.418	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		38	149	0	0	0	1	0	38	149					C	110454328	T	C	110454328	3	2	79	1	0	0	0	0	1	0	0	0	870	1406	49	4	2038	4	ARHGAP20	11	110454328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3297	110454328	24552188	12646	22963											
ARHGAP20	57569	broad.mit.edu	37	chr11	110501445	110501445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcccggccatcaatcaGcagagtcctattggagcaca	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	87	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCATCAATCAGCAGAGTCCTA	0.463																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(259-261)Ctg>Ttg		Rho GTPase activating protein 20							116	114	115					11																	110501445		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110501445G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.259C>T	11.37:g.110501445G>A						ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000357139.3_Silent_p.L61L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L	p.L87L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	4	543	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	87			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.259C>T	CCDS31673.1																																																																																				0.463	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		84	400	0	0	0	1	0	84	400					A	110501445	G	A	110501445	2	1	79	1	0	0	0	0	0	0	0	1	870	962	34	2		2	ARHGAP20	11	110501445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47117	110501445	24505071	12647	22964											
C11orf88	399949	broad.mit.edu	37	chr11	111385713	111385713	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtctgccggtggcgcgGcccaggaggagcagagggtc	19	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000375618.4	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	MIR34B_ENST00000385076.1_RNA|BTG4_ENST00000356018.2_5'Flank|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R|BTG4_ENST00000525791.1_5'Flank	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(202-204)cgG>cgT		chromosome 11 open reading frame 88							36	42	40					11																	111385713		2152	4277	6429	SO:0001819	synonymous_variant	399949							g.chr11:111385713G>T	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"hypothetical gene supported by BC039505"					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.204G>T	11.37:g.111385713G>T			OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R	p.R68R			Q6PI97	CK088_HUMAN			1	204	+			68					E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	c.204G>T	CCDS41713.1																																																																																				0.602	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		46	210	1	0	2.17126e-26	1	2.5019e-26	46	210					T	111385713	G	T	111385713	2	4	79	1	0	0	0	0	0	0	0	1	1675	1190	42	3		3	C11orf88	11	111385713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884268	111385713	23620803	12648	22965											
SIK2	23235	broad.mit.edu	37	chr11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagcataaatggatgCtcatagaagttcctgtccag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	272					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAATGGATGCTCATAGAAGT	0.463																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(814-816)Ctc>Atc		salt-inducible kinase 2							117	103	108					11																	111574013		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111574013C>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.814C>A	11.37:g.111574013C>A	ENSP00000305976:p.Leu272Ile						p.L272I	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			7	987	+			272					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.814C>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250836	0.39797	.	.	ENSG00000170145	ENST00000304987	T	0.25250	1.81	5.57	4.65	0.58169	Protein kinase-like domain (1);	0.215894	0.42548	D	0.000682	T	0.16685	0.0401	L	0.40543	1.245	0.43091	D	0.994769	B	0.33135	0.399	B	0.25614	0.062	T	0.04427	-1.0952	10	0.22109	T	0.4	.	8.6612	0.34093	0.1483:0.7728:0.0:0.0789	.	272	Q9H0K1	SIK2_HUMAN	I	272	ENSP00000305976:L272I	ENSP00000305976:L272I	L	+	1	0	SIK2	111079223	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	1.535000	0.36061	2.627000	0.88993	0.557000	0.71058	CTC		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		61	222	1	0	1.47633e-17	1	1.63113e-17	61	222					A	111574013	C	A	111574013	3	1	79	1	0	0	0	0	1	0	0	0	14368	797	28	3	840	3	SIK2	11	111574013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188300	111574013	23432503	12649	22966											
PPP2R1B	5519	broad.mit.edu	37	chr11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatagtattttgggcccaCtctgtaccaaacttctgaac	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000527614.1	-	12	1529	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	488					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1462-1464)gaG>gaT		protein phosphatase 2, regulatory subunit A, beta							166	152	157					11																	111614190		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111614190C>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1464G>T	11.37:g.111614190C>A	ENSP00000437193:p.Glu488Asp					PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D	p.E488D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1529	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	488					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1464G>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860498	0.32884	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	6.02	-0.582	0.11709	Armadillo-like helical (1);Armadillo-type fold (1);	0.231591	0.45867	N	0.000338	T	0.15998	0.0385	N	0.20881	0.62	0.40696	D	0.982447	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.005;0.0;0.0;0.0;0.001	T	0.09443	-1.0674	10	0.19590	T	0.45	-8.1876	1.1121	0.01706	0.132:0.3117:0.2574:0.299	.	361;443;327;424;488;488	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	D	488;361;424;488;327;443;361	ENSP00000311344:E488D;ENSP00000410671:E424D;ENSP00000437193:E488D;ENSP00000415759:E327D;ENSP00000343317:E443D;ENSP00000376775:E361D	ENSP00000311344:E488D	E	-	3	2	PPP2R1B	111119400	0.976000	0.34144	0.996000	0.52242	0.998000	0.95712	0.166000	0.16583	-0.066000	0.12998	0.655000	0.94253	GAG		0.388	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		100	473	1	0	1.70349e-48	1	2.10302e-48	100	473					A	111614190	C	A	111614190	3	1	79	1	0	0	0	0	1	0	0	0	12430	564	20	3	580	3	PPP2R1B	11	111614190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40177	111614190	23392326	12650	22967											
PPP2R1B	5519	broad.mit.edu	37	chr11	111622994	111622994	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagactgagagagctgacgGattccaatcacttcatttac	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000527614.1	-	10	1292	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000341980.6_Silent_p.I364I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000393055.2_Silent_p.I282I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	409					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1225-1227)atC>atT		protein phosphatase 2, regulatory subunit A, beta							115	103	107					11																	111622994		2201	4297	6498	SO:0001819	synonymous_variant	5519						protein binding	g.chr11:111622994G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1227C>T	11.37:g.111622994G>A						PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000341980.6_Silent_p.I364I	p.I409I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	10	1292	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	409					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.1227C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.216002	0.22373	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.57	3.7	0.42460	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-5.2892	10.441	0.44466	0.1598:0.0:0.8402:0.0	.	.	.	.	S	110	.	.	P	-	1	0	PPP2R1B	111128204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.189000	0.42621	0.818000	0.34468	-0.149000	0.13747	CCG		0.473	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		104	410	0	0	0	1	0	104	410					A	111622994	G	A	111622994	2	1	79	1	0	0	0	0	0	0	0	1	12430	1164	41	2		2	PPP2R1B	11	111622994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8804	111622994	23383522	12651	22968											
ALG9	79796	broad.mit.edu	37	chr11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagagccacagcgccacagaGacatataagtggatacacag	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000531154.1	-	10	1100	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	381					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(628-630)Ctc>Ttc		ALG9, alpha-1,2-mannosyltransferase							100	107	105					11																	111711410		1903	4119	6022	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111711410G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.628C>T	11.37:g.111711410G>A	ENSP00000435517:p.Leu210Phe					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.L210F	p.L210F	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	10	1536	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	381					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.628C>T	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118509	0.94385	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	1.0;0.981;1.0;0.937	D;D;D;P	0.87578	0.998;0.948;0.994;0.896	T	0.82975	-0.0190	10	0.56958	D	0.05	-18.0339	19.5951	0.95533	0.0:0.0:1.0:0.0	.	210;381;614;381	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	F	210;210;614	ENSP00000435517:L210F;ENSP00000381090:L210F	ENSP00000381090:L210F	L	-	1	0	ALG9	111216620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CTC		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		96	386	0	0	0	1	0	96	386					A	111711410	G	A	111711410	3	1	79	1	0	0	0	0	1	0	0	0	524	942	33	2	739	2	ALG9	11	111711410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88416	111711410	23295106	12652	22969											
ALG9	79796	broad.mit.edu	37	chr11	111724395	111724395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatagtatgagggccatcaGcgaccaatgaaagaaactct	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000531154.1	-	7	725	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	256					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(253-255)Ctg>Ttg		ALG9, alpha-1,2-mannosyltransferase							115	109	111					11																	111724395		1843	4086	5929	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111724395G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.253C>T	11.37:g.111724395G>A						ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L85L	p.L85L	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	7	1161	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	256					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.253C>T	CCDS41714.1																																																																																				0.378	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		56	301	0	0	0	1	0	56	301					A	111724395	G	A	111724395	2	1	79	1	0	0	0	0	0	0	0	1	524	962	34	2		2	ALG9	11	111724395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12985	111724395	23282121	12653	22970											
C11orf1	64776	broad.mit.edu	37	chr11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagagacagaacctcGcctgtttcctcacaaaccca	5	16	1	2	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000260276.3	+	2	395	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|ALG9_ENST00000524880.1_5'Flank	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	20						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428																																						ENST00000260276.3																			0				kidney(2)|lung(3)	5						c.(58-60)Gcc>Acc		chromosome 11 open reading frame 1		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	87	74	78		58	-5.8	0	11	dbSNP_134	78	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf1	NM_022761.2	58	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	benign	20/151	111753104	2,12994	2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111753104G>A	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.58G>A	11.37:g.111753104G>A	ENSP00000260276:p.Ala20Thr					C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	p.A20T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	395	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	20					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.58G>A	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375681	0.42105	2.27E-4	1.16E-4	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	-5.8	0.02347	.	1.066680	0.07277	N	0.870122	T	0.10208	0.0250	N	0.16478	0.41	0.09310	N	1	B;B	0.22346	0.068;0.004	B;B	0.15484	0.013;0.002	T	0.29305	-1.0016	10	0.24483	T	0.36	3.966	1.2162	0.01915	0.361:0.0899:0.1949:0.3542	.	60;20	E9PMC1;Q9H5F2	.;CK001_HUMAN	T	20;20;36;60	ENSP00000260276:A20T;ENSP00000435864:A20T;ENSP00000432128:A36T;ENSP00000431180:A60T	ENSP00000260276:A20T	A	+	1	0	C11orf1	111258314	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-1.306000	0.02735	-0.812000	0.04363	0.561000	0.74099	GCC		0.428	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		46	199	0	0	0	1	0	46	199					A	111753104	G	A	111753104	3	1	79	1	0	0	0	0	1	0	0	0	1634	1087	38	1	64	1	C11orf1	11	111753104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28709	111753104	23253412	12654	22971											
DIXDC1	85458	broad.mit.edu	37	chr11	111866132	111866132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttttgcccacagaccagCgacctgcagcttgttcgaga	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000440460.2	+	17	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.S299S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	511					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACAGACCAGCGACCTGCAGC	0.527																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1528-1530)agC>agT		DIX domain containing 1							58	60	59					11																	111866132		2112	4221	6333	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111866132C>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1530C>T	11.37:g.111866132C>T						DIXDC1_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	p.S510S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	17	1827	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	511					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.1530C>T																																																																																					0.527	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		46	231	0	0	0	1	0	46	231					T	111866132	C	T	111866132	2	4	79	1	0	0	0	0	0	0	0	1	4557	767	27	1		1	DIXDC1	11	111866132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113028	111866132	23140384	12655	22972											
DIXDC1	85458	broad.mit.edu	37	chr11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctctccgcagcctgcGcaacagcttcagtggccacg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000440460.2	+	17	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	524					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CGCAGCCTGCGCAACAGCTTC	0.572																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1567-1569)cGc>cAc		DIX domain containing 1							68	71	70					11																	111866170		2131	4234	6365	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111866170G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1568G>A	11.37:g.111866170G>A	ENSP00000394352:p.Arg523His					DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	p.R523H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	17	1865	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	524					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.706164	0.96812	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.25749	1.78;1.78	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.54702	-0.8254	9	0.52906	T	0.07	-37.8064	19.8479	0.96722	0.0:0.0:1.0:0.0	.	189;312;524	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	H	523;312	ENSP00000394352:R523H;ENSP00000314068:R312H	ENSP00000314068:R312H	R	+	2	0	DIXDC1	111371380	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.205000	0.95048	2.681000	0.91329	0.655000	0.94253	CGC		0.572	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		53	271	0	0	0	1	0	53	271					A	111866170	G	A	111866170	3	1	79	1	0	0	0	0	1	0	0	0	4557	1087	38	1	1659	1	DIXDC1	11	111866170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	111866170	23140346	12656	22973											
DLAT	1737	broad.mit.edu	37	chr11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccctgctgccactgcttCgccacctacaccttctgctc	5	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000393051.1_Missense_Mutation_p.S202L|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GCCACTGCTTCGCCACCTACA	0.532																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(604-606)tCg>tTg		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						87	86	87					11																	111899614		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899614C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.605C>T	11.37:g.111899614C>T	ENSP00000280346:p.Ser202Leu					DLAT_ENST00000393051.1_Missense_Mutation_p.S202L|DLAT_ENST00000537636.1_Intron	p.S202L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	4	1264	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	202					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.605C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.16897	2.31;2.41	5.4	2.49	0.30216	.	1.048000	0.07534	N	0.912785	T	0.12860	0.0312	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.22541	0.071;0.002	B;B	0.11329	0.006;0.0	T	0.32375	-0.9909	10	0.31617	T	0.26	2.3041	10.952	0.47334	0.0:0.7928:0.0:0.2072	.	202;202	E9PEJ4;P10515	.;ODP2_HUMAN	L	202;170;202	ENSP00000280346:S202L;ENSP00000376771:S202L	ENSP00000280346:S202L	S	+	2	0	DLAT	111404824	0.173000	0.23056	0.000000	0.03702	0.050000	0.14768	2.911000	0.48774	0.660000	0.30964	-0.225000	0.12378	TCG		0.532	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		123	458	0	0	0	1	0	123	458					T	111899614	C	T	111899614	3	4	79	1	0	0	0	0	1	0	0	0	4565	893	31	1	619	1	DLAT	11	111899614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33444	111899614	23106902	12657	22974											
DLAT	1737	broad.mit.edu	37	chr11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaactccccagcctttaGctcctacaccttcagcaccc	3	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000280346.6	+	7	1668	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	DLAT_ENST00000393051.1_Missense_Mutation_p.A232T|DLAT_ENST00000537636.1_Missense_Mutation_p.A108T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	337					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCAGCCTTTAGCTCCTACACC	0.453																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1009-1011)Gct>Act		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						135	144	141					11																	111910001		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111910001G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1009G>A	11.37:g.111910001G>A	ENSP00000280346:p.Ala337Thr					DLAT_ENST00000393051.1_Missense_Mutation_p.A232T|DLAT_ENST00000537636.1_Missense_Mutation_p.A108T	p.A337T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	7	1668	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	337					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1009G>A	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622404	0.28889	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.26810	2.07;2.24;2.11;1.71	6.17	-2.07	0.07276	.	0.647368	0.16044	N	0.232293	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.15235	-1.0444	10	0.35671	T	0.21	0.4748	2.7461	0.05268	0.2279:0.2008:0.468:0.1033	.	337;232;337	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	337;232;169;108	ENSP00000280346:A337T;ENSP00000376771:A232T;ENSP00000433432:A169T;ENSP00000442427:A108T	ENSP00000280346:A337T	A	+	1	0	DLAT	111415211	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.380000	0.20602	-0.023000	0.13963	-0.150000	0.13652	GCT		0.453	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		33	1119	0	0	0	1	0	33	1119					A	111910001	G	A	111910001	3	1	79	1	0	0	0	0	1	0	0	0	4565	971	34	2	1035	2	DLAT	11	111910001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10387	111910001	23096515	12658	22975											
DLAT	1737	broad.mit.edu	37	chr11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcaggttattgcacagCgattaatgcaatcaaagcaa	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000280346.6	+	10	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	435	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TATTGCACAGCGATTAATGCA	0.333																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1303-1305)Cga>Tga		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						84	76	79					11																	111916599		2201	4296	6497	SO:0001587	stop_gained	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111916599C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1303C>T	11.37:g.111916599C>T	ENSP00000280346:p.Arg435*					DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*	p.R435*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	10	1962	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	435			Catalytic (By similarity).		Q16783|Q53EP3	Nonsense_Mutation	SNP	ENST00000280346.6	37	c.1303C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	36	5.916536	0.97099	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5003	9.6723	0.40019	0.3675:0.5686:0.0:0.064	.	.	.	.	X	435;330;267;206	.	ENSP00000280346:R435X	R	+	1	2	DLAT	111421809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.463000	0.45058	0.323000	0.23307	-0.140000	0.14226	CGA		0.333	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		30	153	0	0	0	1	0	30	153					T	111916599	C	T	111916599	4	4	79	1	0	0	0	0	0	1	0	0	4565	760	27	1	1341	1	DLAT	11	111916599	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6598	111916599	23089917	12659	22976											
DLAT	1737	broad.mit.edu	37	chr11	111930659	111930659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcagtgttgcggtcaGtactcctgcaggactcatca	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	ENST00000280346.6	+	12	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_ENST00000393051.1_Missense_Mutation_p.S411N|DLAT_ENST00000537636.1_Missense_Mutation_p.S287N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	516	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GTTGCGGTCAGTACTCCTGCA	0.348																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1546-1548)aGt>aAt		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						95	72	80					11																	111930659		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111930659G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1547G>A	11.37:g.111930659G>A	ENSP00000280346:p.Ser516Asn					DLAT_ENST00000393051.1_Missense_Mutation_p.S411N|DLAT_ENST00000537636.1_Missense_Mutation_p.S287N	p.S516N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	12	2206	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	516			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1547G>A	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215917	0.79352	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.07	6.07	0.98685	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.83223	2.63	0.80722	D	1	P;D;P	0.57571	0.84;0.98;0.84	P;D;P	0.78314	0.886;0.991;0.886	T	0.70695	-0.4801	10	0.59425	D	0.04	-15.1278	20.6593	0.99626	0.0:0.0:1.0:0.0	.	516;411;516	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	N	516;411;348;287	ENSP00000280346:S516N;ENSP00000376771:S411N;ENSP00000433432:S348N;ENSP00000442427:S287N	ENSP00000280346:S516N	S	+	2	0	DLAT	111435869	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.430000	0.73391	2.885000	0.99019	0.655000	0.94253	AGT		0.348	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		42	167	0	0	0	1	0	42	167					A	111930659	G	A	111930659	3	1	79	1	0	0	0	0	1	0	0	0	4565	1029	36	2	1593	2	DLAT	11	111930659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14060	111930659	23075857	12660	22977											
PIH1D2	120379	broad.mit.edu	37	chr11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtaatatggtaagagtGtgagagggtgaactggaatt	15	1	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000280350.4	-	4	658	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H146Y|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(436-438)Cac>Tac		PIH1 domain containing 2							175	172	173					11																	111941873		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941873G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.436C>T	11.37:g.111941873G>A	ENSP00000280350:p.His146Tyr					PIH1D2_ENST00000280350.4_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y	p.H146Y			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	4	761	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	146					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.436C>T	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368591|3.368591	0.61624|0.61624	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25;2.25|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.628571|.	0.18277|.	N|.	0.146140|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.72479|0.72479	2.2|2.2	0.41608|0.41608	D|D	0.988891|0.988891	D;D;D|.	0.57571|.	0.964;0.98;0.97|.	P;P;P|.	0.51516|.	0.672;0.672;0.663|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.56958|.	D|.	0.05|.	-1.1106|-1.1106	15.6913|15.6913	0.77457|0.77457	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	146;146;146|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Y|I	146;146;146;146;146;111|101	ENSP00000434275:H146Y;ENSP00000388209:H146Y;ENSP00000431841:H146Y;ENSP00000280350:H146Y;ENSP00000431147:H146Y;ENSP00000433297:H111Y|.	ENSP00000280350:H146Y|.	H|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111447083|111447083	0.694000|0.694000	0.27738|0.27738	0.950000|0.950000	0.38849|0.38849	0.832000|0.832000	0.47134|0.47134	1.479000|1.479000	0.35453|0.35453	1.467000|1.467000	0.48044|0.48044	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		122	631	0	0	0	1	0	122	631					A	111941873	G	A	111941873	3	1	79	1	0	0	0	0	1	0	0	0	11949	1377	48	2	581	2	PIH1D2	11	111941873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11214	111941873	23064643	12661	22978											
PIH1D2	120379	broad.mit.edu	37	chr11	111942466	111942467	+	Frame_Shift_Ins	INS	-	-	T													acacaggttgataaaaagtaINSttttttcttttggtttctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111942466_111942467insT	ENST00000280350.4	-	3	415_416	c.193_194insA	c.(193-195)atafs	p.I65fs	C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000431456.1_Frame_Shift_Ins_p.I65fs|PIH1D2_ENST00000532211.1_Frame_Shift_Ins_p.I65fs|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000530641.1_Frame_Shift_Ins_p.I65fs|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Frame_Shift_Ins_p.I65fs	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	65										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GATAAAAAGTATTTTTTCTTTT	0.426																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(193-195)actfs		PIH1 domain containing 2																																				SO:0001589	frameshift_variant	120379							g.chr11:111942466_111942467insT	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.194dupA	11.37:g.111942472_111942472dupT	ENSP00000280350:p.Ile65fs					PIH1D2_ENST00000280350.4_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000532211.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000431456.1_Frame_Shift_Ins_p.T65fs	p.T65fs			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	518_519	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	65					B4DU48|E9PD82	Frame_Shift_Ins	INS	ENST00000280350.4	37	c.193_194insA	CCDS8355.1																																																																																				0.426	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		7	340						7	340	---	---	---	---	T	111942467	-	T	111942466	7	5	79	1	0	1	1	0	0	0	0	0	11949	449	16	0	827	0	PIH1D2	11	111942466	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	593	111942466	23064050	12662	22979											
BCO2	83875	broad.mit.edu	37	chr11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaggtccataattcaGcagccaaatctttccctcga	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000357685.5	+	9	1342	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	403					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(1207-1209)Gca>Aca		beta-carotene oxygenase 2							199	200	200					11																	112084459		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112084459G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1207G>A	11.37:g.112084459G>A	ENSP00000350314:p.Ala403Thr					BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T	p.A403T			Q9BYV7	BCDO2_HUMAN			9	1342	+			403					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.1207G>A	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.872|1.872	-0.460077|-0.460077	0.04508|0.04508	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.94687|0.94862	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49|-3.54	5.27|5.27	1.17|1.17	0.20885|0.20885	.|.	1.298920|.	0.04967|.	N|.	0.463152|.	D|D	0.86351|0.86351	0.5912|0.5912	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.003|.	B;B;B;B|.	0.34418|.	0.007;0.182;0.016;0.026|.	T|T	0.76841|0.76841	-0.2810|-0.2810	10|7	0.19590|0.37606	T|T	0.45|0.19	-4.7509|-4.7509	5.0829|5.0829	0.14666|0.14666	0.3056:0.0:0.5596:0.1348|0.3056:0.0:0.5596:0.1348	.|.	380;330;403;230|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	T|N	403;369;330;369;369;298;369|170	ENSP00000350314:A403T;ENSP00000376752:A369T;ENSP00000354338:A330T;ENSP00000414843:A369T;ENSP00000436615:A369T;ENSP00000431802:A298T;ENSP00000437053:A369T|ENSP00000432045:S170N	ENSP00000350314:A403T|ENSP00000432045:S170N	A|S	+|+	1|2	0|0	BCO2|BCO2	111589669|111589669	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.094000|0.094000	0.18550|0.18550	0.006000|0.006000	0.13152|0.13152	-0.032000|-0.032000	0.13758|0.13758	-0.237000|-0.237000	0.12165|0.12165	GCA|AGC		0.408	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		159	907	0	0	0	1	0	159	907					A	112084459	G	A	112084459	3	1	79	1	0	0	0	0	1	0	0	0	1386	971	34	2	1241	2	BCO2	11	112084459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141993	112084459	22922057	12663	22980											
NCAM1	4684	broad.mit.edu	37	chr11	113075180	113075180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgtgtggttacaggCgaggatggcagtgagtcaga	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000316851.7	+	2	270	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	100	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGTTACAGGCGAGGATGGCA	0.527																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(268-270)ggC>ggT		neural cell adhesion molecule 1							82	85	84					11																	113075180		2136	4229	6365	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113075180C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.270C>T	11.37:g.113075180C>T						NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000397957.4_3'UTR	p.G90G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	2	270	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	100			Ig-like C2-type 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000316851.7	37	c.270C>T																																																																																					0.527	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615		42	189	0	0	0	1	0	42	189					T	113075180	C	T	113075180	2	4	79	1	0	0	0	0	0	0	0	1	10244	755	27	1		1	NCAM1	11	113075180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990721	113075180	21931336	12664	22981											
NCAM1	4684	broad.mit.edu	37	chr11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgccccaaagctacaGggccctgtggctgtgtacac	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000533760.1	+	10	1472	c.873G>T	c.(871-873)caG>caT	p.Q291H	NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	419	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAAAGCTACAGGGCCCTGTGG	0.537																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1225-1227)caG>caT		neural cell adhesion molecule 1							45	47	47					11																	113102908		1931	4146	6077	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102908G>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.873G>T	11.37:g.113102908G>T	ENSP00000473281:p.Gln291His					NCAM1_ENST00000533760.1_Missense_Mutation_p.Q291H|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000397957.4_3'UTR	p.Q409H	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1227	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	419			Ig-like C2-type 4.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1227G>T		.	.	.	.	.	.	.	.	.	.	G	9.298	1.052332	0.19827	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.16	5.51	1.58	0.23477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245525	0.33712	U	0.004635	T	0.53948	0.1828	.	.	.	0.80722	D	1	B;B;B;B	0.20887	0.049;0.007;0.005;0.002	B;B;B;B	0.13407	0.007;0.004;0.007;0.009	T	0.45716	-0.9242	9	0.49607	T	0.09	-28.7809	8.8057	0.34936	0.3503:0.0:0.6497:0.0	.	419;409;419;409	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	H	291;418;409	ENSP00000384055:Q418H;ENSP00000318472:Q409H	ENSP00000318472:Q409H	Q	+	3	2	NCAM1	112608118	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	2.707000	0.47143	0.111000	0.17947	-0.384000	0.06662	CAG		0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		18	137	1	0	3.32936e-07	1	3.45006e-07	18	137					T	113102908	G	T	113102908	3	4	79	1	0	0	0	0	1	0	0	0	10244	991	35	3	1300	3	NCAM1	11	113102908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27728	113102908	21903608	12665	22982											
TTC12	54970	broad.mit.edu	37	chr11	113235728	113235728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacacacagaagacggCcgtgcaggtgaacgcaggca	14	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113235728C>T	ENST00000529221.1	+	21	2093	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	TTC12_ENST00000314756.3_Missense_Mutation_p.A663V|TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	663										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAAGACGGCCGTGCAGGTG	0.562																																						ENST00000529221.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1987-1989)gCc>gTc		tetratricopeptide repeat domain 12							88	65	73					11																	113235728		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113235728C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1988C>T	11.37:g.113235728C>T	ENSP00000433757:p.Ala663Val					TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V	p.A663V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2093	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	663					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1988C>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718723	0.48622	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.50277	0.75;0.75;0.75	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	1.215570	0.05388	N	0.538515	T	0.47192	0.1432	L	0.47190	1.495	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.38562	0.276;0.276	T	0.41142	-0.9525	10	0.52906	T	0.07	-7.9027	10.3699	0.44046	0.2592:0.6124:0.1284:0.0	.	663;663	A8K8G6;Q9H892	.;TTC12_HUMAN	V	663;663;669	ENSP00000433757:A663V;ENSP00000315160:A663V;ENSP00000419652:A669V	ENSP00000315160:A663V	A	+	2	0	TTC12	112740938	0.002000	0.14202	0.071000	0.20095	0.428000	0.31595	0.574000	0.23714	1.443000	0.47586	0.650000	0.86243	GCC		0.562	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		9	267	0	0	0	1	0	9	267					T	113235728	C	T	113235728	3	4	79	1	0	0	0	0	1	0	0	0	16733	739	26	2	2066	2	TTC12	11	113235728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132820	113235728	21770788	12666	22983											
ANKK1	255239	broad.mit.edu	37	chr11	113258669	113258669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttcacccgcgacgacttCgagggcgactggcgcctagt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	ENST00000303941.3	+	1	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	21							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGACGACTTCGAGGGCGACT	0.726																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(61-63)ttC>ttT		ankyrin repeat and kinase domain containing 1							5	8	7					11																	113258669		1775	3911	5686	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113258669C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.63C>T	11.37:g.113258669C>T							p.F21F	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	1	157	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	21						Silent	SNP	ENST00000303941.3	37	c.63C>T	CCDS44734.1																																																																																				0.726	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		8	39	0	0	0	1	0	8	39					T	113258669	C	T	113258669	2	4	79	1	0	0	0	0	0	0	0	1	631	883	31	1		1	ANKK1	11	113258669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22941	113258669	21747847	12667	22984											
ANKK1	255239	broad.mit.edu	37	chr11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgctgggaccaggaccCcaagaagaggccatgctttc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(814-816)cCc>cTc		ankyrin repeat and kinase domain containing 1							91	96	94					11																	113266921		1970	4134	6104	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266921C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.815C>T	11.37:g.113266921C>T	ENSP00000306678:p.Pro272Leu						p.P272L	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	909	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	272			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.815C>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357838	0.24598	.	.	ENSG00000170209	ENST00000303941	T	0.46819	0.86	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139368	0.32161	U	0.006485	T	0.60143	0.2246	M	0.90977	3.165	0.50039	D	0.99984	B	0.22746	0.074	B	0.26202	0.067	T	0.67534	-0.5646	10	0.66056	D	0.02	-30.2474	16.2135	0.82186	0.0:1.0:0.0:0.0	.	272	Q8NFD2	ANKK1_HUMAN	L	272	ENSP00000306678:P272L	ENSP00000306678:P272L	P	+	2	0	ANKK1	112772131	0.037000	0.19845	1.000000	0.80357	0.015000	0.08874	0.365000	0.20348	2.285000	0.76669	0.462000	0.41574	CCC		0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		65	443	0	0	0	1	0	65	443					T	113266921	C	T	113266921	3	4	79	1	0	0	0	0	1	0	0	0	631	623	22	2	833	2	ANKK1	11	113266921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8252	113266921	21739595	12668	22985											
ANKK1	255239	broad.mit.edu	37	chr11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccatcgagacagacataCtgctgtcactgctgcagagt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L288L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587																																						ENST00000303941.3																			1	Substitution - coding silent(1)	p.L288L(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(862-864)Ctg>Atg		ankyrin repeat and kinase domain containing 1							61	64	63					11																	113267969		2136	4237	6373	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113267969C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.862C>A	11.37:g.113267969C>A	ENSP00000306678:p.Leu288Met						p.L288M	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	6	956	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	288			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.862C>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816348	0.32145	.	.	ENSG00000170209	ENST00000303941	T	0.76448	-1.02	4.8	3.88	0.44766	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355271	0.19070	N	0.123526	T	0.80874	0.4707	L	0.38838	1.175	0.39011	D	0.959556	D	0.71674	0.998	D	0.66196	0.942	T	0.81226	-0.1029	10	0.46703	T	0.11	-7.9202	12.6573	0.56793	0.0:0.8342:0.1658:0.0	.	288	Q8NFD2	ANKK1_HUMAN	M	288	ENSP00000306678:L288M	ENSP00000306678:L288M	L	+	1	2	ANKK1	112773179	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.186000	0.32078	1.218000	0.43458	-0.304000	0.09214	CTG		0.587	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		43	130	1	0	4.42602e-33	1	5.23957e-33	43	130					A	113267969	C	A	113267969	3	1	79	1	0	0	0	0	1	0	0	0	631	564	20	3	884	3	ANKK1	11	113267969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1048	113267969	21738547	12669	22986											
ANKK1	255239	broad.mit.edu	37	chr11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccactgcactttgcaGcccagaatggggatgacggc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	436							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1306-1308)Gcc>Acc		ankyrin repeat and kinase domain containing 1							23	26	25					11																	113269997		2137	4235	6372	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113269997G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1306G>A	11.37:g.113269997G>A	ENSP00000306678:p.Ala436Thr						p.A436T	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1400	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	436						Missense_Mutation	SNP	ENST00000303941.3	37	c.1306G>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357415	0.61293	.	.	ENSG00000170209	ENST00000303941	T	0.71817	-0.6	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000021	T	0.81880	0.4916	L	0.61387	1.9	0.48135	D	0.999594	D	0.76494	0.999	D	0.73708	0.981	D	0.84058	0.0373	10	0.72032	D	0.01	-20.5807	16.5983	0.84802	0.0:0.0:1.0:0.0	.	436	Q8NFD2	ANKK1_HUMAN	T	436	ENSP00000306678:A436T	ENSP00000306678:A436T	A	+	1	0	ANKK1	112775207	1.000000	0.71417	0.945000	0.38365	0.082000	0.17680	6.159000	0.71856	2.387000	0.81309	0.455000	0.32223	GCC		0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		13	56	0	0	0	1	0	13	56					A	113269997	G	A	113269997	3	1	79	1	0	0	0	0	1	0	0	0	631	971	34	2	1336	2	ANKK1	11	113269997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	113269997	21736519	12670	22987											
DRD2	1813	broad.mit.edu	37	chr11	113281506	113281506	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaatgttgaaggtggtgtaGatgatggggttcacggcgct	16	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.I396I|DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000538967.1_Silent_p.I427I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	425					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGTGGTGTAGATGATGGGGT	0.577																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(1273-1275)atC>atA		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						273	203	227					11																	113281506		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113281506G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1275C>A	11.37:g.113281506G>T						DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.I427I	p.I425I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	8	1619	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	425					Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.1275C>A	CCDS8361.1																																																																																				0.577	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		137	612	1	0	1.88352e-63	1	2.37737e-63	137	612					T	113281506	G	T	113281506	2	4	79	1	0	0	0	0	0	0	0	1	4773	932	33	3		3	DRD2	11	113281506	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11509	113281506	21725010	12671	22988											
TMPRSS5	80975	broad.mit.edu	37	chr11	113560616	113560616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgtccccatctgggcaCactagggggcccccgctatc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113560616C>T	ENST00000299882.5	-	12	1378	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	410	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CATCTGGGCACACTAGGGGGC	0.607																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(1228-1230)gtG>gtA		transmembrane protease, serine 5							15	16	16					11																	113560616		1899	4105	6004	SO:0001819	synonymous_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113560616C>T	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1230G>A	11.37:g.113560616C>T						TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V|TMPRSS5_ENST00000536856.1_Intron	p.V410V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	12	1378	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	410			Peptidase S1.			Silent	SNP	ENST00000299882.5	37	c.1230G>A	CCDS44735.1																																																																																				0.607	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		5	25	0	0	0	1	0	5	25					T	113560616	C	T	113560616	2	4	79	1	0	0	0	0	0	0	0	1	16302	465	17	2		2	TMPRSS5	11	113560616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279110	113560616	21445900	12672	22989											
ZW10	9183	broad.mit.edu	37	chr11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtacatacagttgTtgtgatgaatagcagccaac	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	543					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACAGTTGTTGTGATGAAT	0.488																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1627-1629)aAc>aCc		zw10 kinetochore protein							158	140	146					11																	113610060		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113610060T>G	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1628A>C	11.37:g.113610060T>G	ENSP00000200135:p.Asn543Thr						p.N543T	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	12	1772	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	543					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1628A>C	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310377	0.81358	.	.	ENSG00000086827	ENST00000200135	T	0.75704	-0.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88631	0.3169	10	0.87932	D	0	-19.3846	15.9494	0.79820	0.0:0.0:0.0:1.0	.	543	O43264	ZW10_HUMAN	T	543	ENSP00000200135:N543T	ENSP00000200135:N543T	N	-	2	0	ZW10	113115270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.167000	0.68274	0.482000	0.46254	AAC		0.488	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		73	349	0	0	0	1	0	73	349					G	113610060	T	G	113610060	3	3	79	1	0	0	0	0	1	0	0	0	18300	1725	60	4	731	4	ZW10	11	113610060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49444	113610060	21396456	12673	22990											
USP28	57646	broad.mit.edu	37	chr11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattaatgtacatcagaCagtaagcactaacatttctc	5	9	3	1	rs370538899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	644	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTACATCAGACAGTAAGCACT	0.413																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1930-1932)tGt>tAt		ubiquitin specific peptidase 28							117	111	113					11																	113683039		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683039C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1931G>A	11.37:g.113683039C>T	ENSP00000003302:p.Cys644Tyr					USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y	p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1999	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	644					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1931G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483135	0.84747	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54443	-0.8293	10	0.72032	D	0.01	-15.4412	18.491	0.90848	0.0:1.0:0.0:0.0	.	519;644;352	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Y	644;644;352;519;348	ENSP00000003302:C644Y;ENSP00000260188:C644Y;ENSP00000442431:C352Y;ENSP00000444991:C519Y;ENSP00000442257:C348Y	ENSP00000003302:C644Y	C	-	2	0	USP28	113188249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.585000	0.87301	0.655000	0.94253	TGT		0.413	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			54	356	0	0	0	1	0	54	356					T	113683039	C	T	113683039	3	4	79	1	0	0	0	0	1	0	0	0	17112	478	17	2	1342	2	USP28	11	113683039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72979	113683039	21323477	12674	22991											
USP28	57646	broad.mit.edu	37	chr11	113683095	113683095	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctttcaacttcttcccaGgaagattcagtaacagagat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000260188.5_Silent_p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1873-1875)tcC>tcA		ubiquitin specific peptidase 28							132	134	133					11																	113683095		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683095G>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1875C>A	11.37:g.113683095G>T						USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S	p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1943	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	625					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.1875C>A	CCDS31680.1																																																																																				0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			68	386	1	0	3.94896e-32	1	4.66014e-32	68	386					T	113683095	G	T	113683095	2	4	79	1	0	0	0	0	0	0	0	1	17112	987	35	3		3	USP28	11	113683095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	113683095	21323421	12675	22992											
USP28	57646	broad.mit.edu	37	chr11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagaaaccgagcagtGcactgaagaaagtggtaatg	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	477	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCGAGCAGTGCACTGAAGAA	0.358																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1429-1431)Cac>Tac		ubiquitin specific peptidase 28							163	142	149					11																	113688414		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113688414G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1429C>T	11.37:g.113688414G>A	ENSP00000003302:p.His477Tyr					USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y	p.H477Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	13	1497	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	477					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1429C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.068011	0.07228	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.44083	1.52;1.53;0.93;1.53;1.91	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.638378	0.16792	N	0.199355	T	0.30198	0.0757	N	0.14661	0.345	0.29783	N	0.833808	B;B;B;B	0.22003	0.032;0.043;0.025;0.063	B;B;B;B	0.24974	0.057;0.032;0.023;0.034	T	0.17806	-1.0357	10	0.44086	T	0.13	-10.7052	14.7347	0.69406	0.0:0.0:1.0:0.0	.	352;477;477;185	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Y	477;477;185;352;477	ENSP00000003302:H477Y;ENSP00000260188:H477Y;ENSP00000442431:H185Y;ENSP00000444991:H352Y;ENSP00000445743:H477Y	ENSP00000003302:H477Y	H	-	1	0	USP28	113193624	0.990000	0.36364	0.718000	0.30602	0.865000	0.49528	2.355000	0.44107	2.861000	0.98227	0.650000	0.86243	CAC		0.358	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			120	469	0	0	0	1	0	120	469					A	113688414	G	A	113688414	3	1	79	1	0	0	0	0	1	0	0	0	17112	1319	46	2	1856	2	USP28	11	113688414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5319	113688414	21318102	12676	22993											
USP28	57646	broad.mit.edu	37	chr11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacagctagctggaatgcgTcctctagccaatccaggagc	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000542033.1_Intron|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000260188.5_Missense_Mutation_p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	269	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGGAATGCGTCCTCTAGCCA	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(805-807)gAc>gGc		ubiquitin specific peptidase 28							112	92	99					11																	113702669		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113702669T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.806A>G	11.37:g.113702669T>C	ENSP00000003302:p.Asp269Gly					USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000542033.1_Intron	p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	8	874	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	269					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.806A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741660	0.89573	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	T	0.47484	-0.9114	10	0.49607	T	0.09	-26.2298	15.0622	0.71964	0.0:0.0:0.0:1.0	.	144;269;269	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	G	269;269;144;33;269;168	ENSP00000003302:D269G;ENSP00000260188:D269G;ENSP00000444991:D144G;ENSP00000442257:D33G;ENSP00000445743:D269G;ENSP00000440799:D168G	ENSP00000003302:D269G	D	-	2	0	USP28	113207879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.011000	0.59026	0.460000	0.39030	GAC		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			12	201	0	0	0	1	0	12	201					C	113702669	T	C	113702669	3	2	79	1	0	0	0	0	1	0	0	0	17112	1667	58	4	2499	4	USP28	11	113702669	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14255	113702669	21303847	12677	22994											
HTR3B	9177	broad.mit.edu	37	chr11	113780108	113780108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcataaagaagtgagAcctgtttacaactggaccaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	48					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AAGAAGTGAGACCTGTTTACA	0.448																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(142-144)agA>agG		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							131	108	116					11																	113780108		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113780108A>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.144A>G	11.37:g.113780108A>G						HTR3B_ENST00000537778.1_Silent_p.R37R	p.R48R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	2	401	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	48					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.144A>G	CCDS8364.1																																																																																				0.448	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		56	267	0	0	0	1	0	56	267					G	113780108	A	G	113780108	2	3	79	1	0	0	0	0	0	0	0	1	7475	272	10	4		4	HTR3B	11	113780108	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77439	113780108	21226408	12678	22995											
HTR3B	9177	broad.mit.edu	37	chr11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaacgtgctgtggtaAcaggtgtgtgagaagccttg	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	363					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGCTGTGGTAACAGGTGTGTG	0.537																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(1087-1089)Aca>Cca		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							148	122	131					11																	113815474		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815474A>C	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1087A>C	11.37:g.113815474A>C	ENSP00000260191:p.Thr363Pro					HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	p.T363P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1344	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	363					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.1087A>C	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	A	6.484	0.457526	0.12342	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.23552	1.9;1.9	5.11	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.660669	0.16067	N	0.231187	T	0.12050	0.0293	N	0.11789	0.175	0.30936	N	0.726339	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12477	-1.0546	10	0.31617	T	0.26	-2.0701	4.6748	0.12706	0.7057:0.1958:0.0985:0.0	.	352;363	O95264-2;O95264	.;5HT3B_HUMAN	P	363;352	ENSP00000260191:T363P;ENSP00000443118:T352P	ENSP00000260191:T363P	T	+	1	0	HTR3B	113320684	0.009000	0.17119	0.707000	0.30419	0.119000	0.20118	-0.088000	0.11198	0.776000	0.33473	0.533000	0.62120	ACA		0.537	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		61	305	0	0	0	1	0	61	305					C	113815474	A	C	113815474	3	2	79	1	0	0	0	0	1	0	0	0	7475	43	2	4	1117	4	HTR3B	11	113815474	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35366	113815474	21191042	12679	22996											
HTR3A	3359	broad.mit.edu	37	chr11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtatattcggcatcaaGgcgaagttcagaactacaag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCGGCATCAAGGCGAAGTTCA	0.537																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(427-429)Ggc>Agc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						182	161	168					11																	113853894		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853894G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.427G>A	11.37:g.113853894G>A	ENSP00000424189:p.Gly143Ser					HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S	p.G143S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	872	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	143					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.427G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378457	0.82682	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95712	3.71	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	0.99391	1.0925	10	0.72032	D	0.01	-21.8271	14.2487	0.66004	0.0721:0.0:0.9279:0.0	.	128;149;149	B4DSY6;G5E986;Q7KZM7	.;.;.	S	143;149;149;143;128	ENSP00000424189:G143S;ENSP00000347754:G149S;ENSP00000364648:G149S;ENSP00000424776:G143S;ENSP00000299961:G128S	ENSP00000299961:G128S	G	+	1	0	HTR3A	113359104	1.000000	0.71417	0.035000	0.18076	0.571000	0.35966	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GGC		0.537	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		138	558	0	0	0	1	0	138	558					A	113853894	G	A	113853894	3	1	79	1	0	0	0	0	1	0	0	0	7474	1000	35	2	489	2	HTR3A	11	113853894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38420	113853894	21152622	12680	22997											
HTR3A	3359	broad.mit.edu	37	chr11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattacactcctcctggGctactcggtcttcctgatca	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	283					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCCTCCTGGGCTACTCGGTC	0.577																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(847-849)gGc>gAc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						103	80	88					11																	113857382		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857382G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.848G>A	11.37:g.113857382G>A	ENSP00000424189:p.Gly283Asp					HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D	p.G283D			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1293	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	283					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.848G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540559	0.85917	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85258	-1.96;-0.62;-1.96;-0.62;-1.96;-1.96	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.88310	2.945	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	D	0.94826	0.7991	10	0.87932	D	0	-31.8021	18.4412	0.90667	0.0:0.0:1.0:0.0	.	268;289;289	B4DSY6;G5E986;Q7KZM7	.;.;.	D	283;289;289;283;27;268	ENSP00000424189:G283D;ENSP00000347754:G289D;ENSP00000364648:G289D;ENSP00000424776:G283D;ENSP00000437776:G27D;ENSP00000299961:G268D	ENSP00000299961:G268D	G	+	2	0	HTR3A	113362592	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.421000	0.82119	0.561000	0.74099	GGC		0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		49	424	0	0	0	1	0	49	424					A	113857382	G	A	113857382	3	1	79	1	0	0	0	0	1	0	0	0	7474	1203	42	2	918	2	HTR3A	11	113857382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3488	113857382	21149134	12681	22998											
HTR3A	3359	broad.mit.edu	37	chr11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctgcgcgtgggctccGtgctggacaagctgctattc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGTGGGCTCCGTGCTGGACAA	0.602																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1342-1344)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						81	73	76					11																	113860390		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860390G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1342G>A	11.37:g.113860390G>A	ENSP00000424189:p.Val448Met					HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M	p.V448M			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1787	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	448			HA-stretch.		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1342G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.063842	0.76187	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.43245	-0.9403	10	0.87932	D	0	-26.7499	13.105	0.59241	0.073:0.0:0.927:0.0	.	433;486;454	B4DSY6;G5E986;Q7KZM7	.;.;.	M	448;486;454;480;192;433	ENSP00000424189:V448M;ENSP00000347754:V486M;ENSP00000364648:V454M;ENSP00000424776:V480M;ENSP00000437776:V192M;ENSP00000299961:V433M	ENSP00000299961:V433M	V	+	1	0	HTR3A	113365600	1.000000	0.71417	0.973000	0.42090	0.621000	0.37620	5.499000	0.66937	2.710000	0.92621	0.655000	0.94253	GTG		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		108	437	0	0	0	1	0	108	437					A	113860390	G	A	113860390	3	1	79	1	0	0	0	0	1	0	0	0	7474	1145	40	1	1512	1	HTR3A	11	113860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3008	113860390	21146126	12682	22999											
ZBTB16	7704	broad.mit.edu	37	chr11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccatggtggaccagaGcccttcagtctccacttcat	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	184					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTGGACCAGAGCCCTTCAGTC	0.552																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(550-552)aGc>aAc		zinc finger and BTB domain containing 16							56	58	57					11																	113934573		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934573G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.551G>A	11.37:g.113934573G>A	ENSP00000338157:p.Ser184Asn					ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	931	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	184					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.551G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912424	0.52439	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10288	2.89;2.89	5.67	4.74	0.60224	.	0.117422	0.85682	D	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15150	-1.0447	10	0.35671	T	0.21	-4.991	15.5488	0.76129	0.0695:0.0:0.9305:0.0	.	184;189	Q05516;Q59H43	ZBT16_HUMAN;.	N	184	ENSP00000338157:S184N;ENSP00000376721:S184N	ENSP00000309507:S184N	S	+	2	0	ZBTB16	113439783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.828000	0.97474	0.655000	0.94253	AGC		0.552	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		68	285	0	0	0	1	0	68	285					A	113934573	G	A	113934573	3	1	79	1	0	0	0	0	1	0	0	0	17579	971	34	2	553	2	ZBTB16	11	113934573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74183	113934573	21071943	12683	23000											
RBM7	10179	broad.mit.edu	37	chr11	114278261	114278261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcagttcaatcacacaGtcatagtttcaatcagtctt	4	11	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278261G>A	ENST00000540163.1	+	5	1175	c.533G>A	c.(532-534)aGt>aAt	p.S178N	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RBM7_ENST00000545678.1_Missense_Mutation_p.S58N|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	178					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CAATCACACAGTCATAGTTTC	0.423																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(532-534)aGt>aAt		RNA binding motif protein 7							127	117	120					11																	114278261		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278261G>A	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.533G>A	11.37:g.114278261G>A	ENSP00000439918:p.Ser178Asn					RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RBM7_ENST00000545678.1_Missense_Mutation_p.S58N	p.S178N			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1175	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	178					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.533G>A	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	2.582	-0.297191	0.05532	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28666	1.6;2.56	5.75	-3.26	0.05064	.	0.953562	0.08863	N	0.882799	T	0.14700	0.0355	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36817	-0.9732	10	0.13853	T	0.58	-8.5023	9.279	0.37716	0.2992:0.1276:0.5733:0.0	.	178;178	Q6IRX3;Q9Y580	.;RBM7_HUMAN	N	178;179;58	ENSP00000439918:S178N;ENSP00000364639:S179N	ENSP00000364639:S179N	S	+	2	0	RBM7	113783471	0.122000	0.22280	0.380000	0.26093	0.198000	0.23893	0.087000	0.14958	-0.502000	0.06596	-1.078000	0.02229	AGT		0.423	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		116	499	0	0	0	1	0	116	499					A	114278261	G	A	114278261	3	1	79	1	0	0	0	0	1	0	0	0	13195	1029	36	2	551	2	RBM7	11	114278261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343688	114278261	20728255	12684	23001											
RBM7	10179	broad.mit.edu	37	chr11	114278379	114278379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacattatagccgggaacaGcgttacactgatcatgggtc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278379G>T	ENST00000540163.1	+	5	1293	c.651G>T	c.(649-651)caG>caT	p.Q217H	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	217					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCGGGAACAGCGTTACACTG	0.443																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(649-651)caG>caT		RNA binding motif protein 7							114	99	104					11																	114278379		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278379G>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.651G>T	11.37:g.114278379G>T	ENSP00000439918:p.Gln217His					RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H	p.Q217H			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1293	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	217					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.651G>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052694	0.36181	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.29142	1.58;2.6	5.66	2.72	0.32119	.	0.287655	0.34435	N	0.003965	T	0.24890	0.0604	L	0.50333	1.59	0.34958	D	0.75194	B;B	0.13594	0.002;0.008	B;B	0.11329	0.003;0.006	T	0.16247	-1.0409	10	0.72032	D	0.01	-0.2045	5.4956	0.16802	0.0764:0.1402:0.6381:0.1454	.	217;217	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	217;218;97	ENSP00000439918:Q217H;ENSP00000364639:Q218H	ENSP00000364639:Q218H	Q	+	3	2	RBM7	113783589	0.788000	0.28762	0.731000	0.30826	0.997000	0.91878	0.323000	0.19593	0.298000	0.22638	0.585000	0.79938	CAG		0.443	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		91	374	1	0	7.69131e-47	1	9.45669e-47	91	374					T	114278379	G	T	114278379	3	4	79	1	0	0	0	0	1	0	0	0	13195	962	34	3	669	3	RBM7	11	114278379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	114278379	20728137	12685	23002											
REXO2	25996	broad.mit.edu	37	chr11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtgtaggtgggagtcAcggacggttcggggcccgag	22	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000265881.5	+	1	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	18					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265881.5																			0				cervix(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(52-54)cAc>cGc		RNA exonuclease 2							31	33	33					11																	114310303		2199	4294	6493	SO:0001583	missense	25996				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding	g.chr11:114310303A>G	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"REX2, RNA exonuclease 2 homolog (S. cerevisiae)"			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.53A>G	11.37:g.114310303A>G	ENSP00000265881:p.His18Arg		OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1457	RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R	p.H18R	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)	1	196	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	18					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000265881.5	37	c.53A>G	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	a	3.772	-0.047394	0.07407	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	.	.	.	5.27	2.42	0.29668	.	1.206880	0.05657	N	0.586217	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	9	0.05351	T	0.99	2.6504	6.1819	0.20476	0.2333:0.1352:0.6315:0.0	.	18;18	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	R	18	.	ENSP00000265881:H18R	H	+	2	0	REXO2	113815513	0.025000	0.19082	0.737000	0.30932	0.771000	0.43674	0.592000	0.23984	0.235000	0.21160	-0.147000	0.13772	CAC		0.711	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		13	108	0	0	0	1	0	13	108					G	114310303	A	G	114310303	3	3	79	1	0	0	0	0	1	0	0	0	13292	159	6	4	55	4	REXO2	11	114310303	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31924	114310303	20696213	12686	23003											
FAM55D	54827	broad.mit.edu	37	chr11	114465413	114465413	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttctggaaaactgtaaaAatgatccaggaggctaatat	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114465413A>C	ENST00000375478.3	-	2	249	c.69T>G	c.(67-69)atT>atG	p.I23M	NXPE4_ENST00000424261.2_De_novo_Start_OutOfFrame	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	23						extracellular vesicular exosome (GO:0070062)											AAACTGTAAAAATGATCCAGG	0.328																																						ENST00000424261.2																			0													neurexophilin and PC-esterase domain family, member 4							126	120	122					11																	114465413		1817	4069	5886	SO:0001583	missense	54827							g.chr11:114465413A>C	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.69T>G	11.37:g.114465413A>C	ENSP00000364627:p.Ile23Met					NXPE4_ENST00000375478.3_Missense_Mutation_p.I23M		NM_017678.2	NP_060148.2					0	237	-								Q6QDB4|Q9NXP5	Translation_Start_Site	SNP	ENST00000375478.3	37		CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776184	0.31411	.	.	ENSG00000137634	ENST00000375478	T	0.14144	2.53	4.64	-2.81	0.05805	.	1.951620	0.02130	N	0.056316	T	0.10337	0.0253	L	0.34521	1.04	0.09310	N	1	P	0.43633	0.813	B	0.41988	0.372	T	0.16424	-1.0403	10	0.34782	T	0.22	.	1.5972	0.02666	0.2925:0.1455:0.0907:0.4713	.	23	Q6UWF7	FA55D_HUMAN	M	23	ENSP00000364627:I23M	ENSP00000364627:I23M	I	-	3	3	FAM55D	113970623	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.272000	0.18644	-0.240000	0.09696	-1.216000	0.01612	ATT		0.328	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		78	405	0	0	0	1	0	78	405					C	114465413	A	C	114465413	3	2	79	1	0	0	0	0	1	0	0	0	5612	10	1	4	1585	4	FAM55D	11	114465413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155110	114465413	20541103	12687	23004											
FAM55B	120406	broad.mit.edu	37	chr11	114569326	114569326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatgtcttcactgaatGtggcctgaccctaaacacaa	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114569326G>A	ENST00000389586.4	+	3	882	c.692G>A	c.(691-693)tGt>tAt	p.C231Y	NXPE2_ENST00000375475.5_Missense_Mutation_p.C231Y	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	231						integral component of membrane (GO:0016021)											TTCACTGAATGTGGCCTGACC	0.498																																						ENST00000375475.5																			0											c.(691-693)tGt>tAt		neurexophilin and PC-esterase domain family, member 2							91	82	85					11																	114569326		692	1591	2283	SO:0001583	missense	120406							g.chr11:114569326G>A	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.692G>A	11.37:g.114569326G>A	ENSP00000374237:p.Cys231Tyr					NXPE2_ENST00000389586.4_Missense_Mutation_p.C231Y	p.C231Y							3	790	+								Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.692G>A	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943844	0.73672	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.33865	1.99;1.39	4.55	3.63	0.41609	.	0.000000	0.64402	D	0.000005	T	0.66446	0.2790	H	0.95679	3.705	0.46458	D	0.999052	D	0.59357	0.985	P	0.62560	0.904	T	0.74928	-0.3497	10	0.66056	D	0.02	.	11.7228	0.51691	0.0:0.0:0.8222:0.1778	.	231	Q96DL1	FA55B_HUMAN	Y	231	ENSP00000374237:C231Y;ENSP00000364624:C231Y	ENSP00000364624:C231Y	C	+	2	0	FAM55B	114074536	1.000000	0.71417	0.695000	0.30226	0.478000	0.33099	3.379000	0.52440	0.890000	0.36211	0.591000	0.81541	TGT		0.498	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		15	254	0	0	0	1	0	15	254					A	114569326	G	A	114569326	3	1	79	1	0	0	0	0	1	0	0	0	5610	1377	48	2	702	2	FAM55B	11	114569326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103913	114569326	20437190	12688	23005											
CADM1	23705	broad.mit.edu	37	chr11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacgacgccaccgatcaCggcatgatccactgccctga	9	18	1	2	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGATCACGGCATGATCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.001					ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1042-1044)Gtg>Atg		cell adhesion molecule 1		C	MET/VAL,MET/VAL	0,4402		0,0,2201	129	111	117		1042,1126	5	1	11	dbSNP_134	117	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CADM1	NM_001098517.1,NM_014333.3	21,21	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	348/415,376/443	115049448	1,12993	2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115049448C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1126G>A	11.37:g.115049448C>T	ENSP00000395359:p.Val376Met					CADM1_ENST00000452722.2_Missense_Mutation_p.V376M|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M	p.V348M	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1170	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	376	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Missense_Mutation	SNP	ENST00000452722.3	37	c.1042G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589329|3.589329	0.66105|0.66105	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.999;0.994	.|D;P;D;P	.|0.69654	.|0.935;0.819;0.965;0.67	T|T	0.79157|0.79157	-0.1919|-0.1919	5|10	.|0.38643	.|T	.|0.18	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;349;376;348	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	H|M	346|348;376;387;377;307;405;61	.|ENSP00000439176:V348M;ENSP00000395359:V376M;ENSP00000439817:V387M;ENSP00000440322:V377M;ENSP00000329797:V405M	.|ENSP00000329797:V405M	R|V	-|-	2|1	0|0	CADM1|CADM1	114554658|114554658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.448000|4.448000	0.60027|0.60027	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		107	537	0	0	0	1	0	107	537					T	115049448	C	T	115049448	3	4	79	1	0	0	0	0	1	0	0	0	2573	536	19	1	210	1	CADM1	11	115049448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480122	115049448	19957068	12689	23006											
CADM1	23705	broad.mit.edu	37	chr11	115088668	115088668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccccttcccgggttaaGccttgtagaggataagtcat	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCCGGGTTAAGCCTTGTAGAG	0.453																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(763-765)ggC>ggT		cell adhesion molecule 1							152	129	137					11																	115088668		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115088668G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.765C>T	11.37:g.115088668G>A						CADM1_ENST00000452722.2_Silent_p.G255G|CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G	p.G255G	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	6	893	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	255			Ig-like C2-type 2.			Silent	SNP	ENST00000452722.3	37	c.765C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908549	0.17833	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	.	14.1468	0.65355	0.0:0.1493:0.8507:0.0	.	.	.	.	F	254	.	.	L	-	1	0	CADM1	114593878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	2.593000	0.87608	0.655000	0.94253	CTT		0.453	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		52	231	0	0	0	1	0	52	231					A	115088668	G	A	115088668	2	1	79	1	0	0	0	0	0	0	0	1	2573	958	34	2		2	CADM1	11	115088668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39220	115088668	19917848	12690	23007											
CADM1	23705	broad.mit.edu	37	chr11	115099861	115099861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagataccgctgggtctgCaggtttccagtgaccgcagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGGTCTGCAGGTTTCCAG	0.512																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(691-693)ctG>ctA		cell adhesion molecule 1							81	64	70					11																	115099861		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115099861C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.693G>A	11.37:g.115099861C>T						CADM1_ENST00000452722.2_Silent_p.L231L|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000536727.1_Silent_p.L231L	p.L231L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	5	821	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	231			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.693G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347509	0.24426	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	.	.	.	T	230	.	.	A	-	1	0	CADM1	114605071	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.673000	0.46858	1.627000	0.50400	0.655000	0.94253	GCA		0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		37	186	0	0	0	1	0	37	186					T	115099861	C	T	115099861	2	4	79	1	0	0	0	0	0	0	0	1	2573	697	25	2		2	CADM1	11	115099861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11193	115099861	19906655	12691	23008											
BUD13	84811	broad.mit.edu	37	chr11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaggccagatattaaatCtgttgggaggaggtgctgga	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000260210.4	-	9	1747	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	575					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1723-1725)aGa>aTa		BUD13 homolog (S. cerevisiae)							81	77	78					11																	116627904		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116627904C>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1724G>T	11.37:g.116627904C>A	ENSP00000260210:p.Arg575Ile					BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	p.R575I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	9	1747	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	575					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1724G>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454206	0.96223	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.68181	0.07;-0.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90556	0.4512	10	0.87932	D	0	-17.0014	20.5801	0.99389	0.0:1.0:0.0:0.0	.	441;575	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	I	441;575	ENSP00000364594:R441I;ENSP00000260210:R575I	ENSP00000260210:R575I	R	-	2	0	BUD13	116133114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.873000	0.98535	0.643000	0.83706	AGA		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		29	141	1	0	4.02929e-09	1	4.23443e-09	29	141					A	116627904	C	A	116627904	3	1	79	1	0	0	0	0	1	0	0	0	1577	913	32	3	143	3	BUD13	11	116627904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528043	116627904	18378612	12692	23009											
APOA5	116519	broad.mit.edu	37	chr11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagctcctgcacgtggCgcccgatgccgctcaccagg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000227665.4	-	3	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	APOA5_ENST00000542499.1_Missense_Mutation_p.R204H|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(610-612)cGc>cAc		apolipoprotein A-V							13	16	15					11																	116661334		2176	4251	6427	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661334C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.611G>A	11.37:g.116661334C>T	ENSP00000227665:p.Arg204His					APOA5_ENST00000227665.4_Missense_Mutation_p.R204H	p.R204H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	683	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	204					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.611G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365282	0.11352	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73681	-0.77;-0.77	4.84	-7.05	0.01573	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	T	0.54870	0.1885	N	0.11064	0.09	0.22851	N	0.998653	B;B	0.14805	0.011;0.004	B;B	0.12837	0.008;0.008	T	0.39761	-0.9598	10	0.29301	T	0.29	-6.7753	16.6351	0.85050	0.0:0.7996:0.0:0.2004	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	204	ENSP00000227665:R204H;ENSP00000445002:R204H	ENSP00000227665:R204H	R	-	2	0	APOA5	116166544	0.163000	0.22920	0.823000	0.32752	0.894000	0.52154	-0.967000	0.03821	-1.392000	0.02082	-0.157000	0.13467	CGC		0.701	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			42	156	0	0	0	1	0	42	156					T	116661334	C	T	116661334	3	4	79	1	0	0	0	0	1	0	0	0	784	768	27	1	493	1	APOA5	11	116661334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33430	116661334	18345182	12693	23010											
APOA5	116519	broad.mit.edu	37	chr11	116661734	116661734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcctcagcttttccaGgaacttgttcatattgttga	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661734G>T	ENST00000227665.4	-	3	245	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	APOA5_ENST00000542499.1_Missense_Mutation_p.L71M|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	71					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGCTTTTCCAGGAACTTGTTC	0.587																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(211-213)Ctg>Atg		apolipoprotein A-V							22	25	24					11																	116661734		2187	4267	6454	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661734G>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.211C>A	11.37:g.116661734G>T	ENSP00000227665:p.Leu71Met					APOA5_ENST00000227665.4_Missense_Mutation_p.L71M	p.L71M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	283	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	71					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.211C>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728506	0.30593	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.86097	-0.87;-0.87;-2.07	4.92	2.9	0.33743	Apolipoprotein/apolipophorin (1);	0.000000	0.44097	D	0.000495	D	0.90160	0.6925	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.80334	-0.1426	10	0.42905	T	0.14	-15.7997	7.2775	0.26292	0.3041:0.0:0.6959:0.0	.	68;71	B0YIW1;Q6Q788	.;APOA5_HUMAN	M	71	ENSP00000227665:L71M;ENSP00000445002:L71M;ENSP00000399701:L71M	ENSP00000227665:L71M	L	-	1	2	APOA5	116166944	0.015000	0.18098	0.844000	0.33320	0.255000	0.26057	0.698000	0.25571	1.288000	0.44600	0.650000	0.86243	CTG		0.587	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			11	273	1	0	1.58986e-06	1	1.64048e-06	11	273					T	116661734	G	T	116661734	3	4	79	1	0	0	0	0	1	0	0	0	784	991	35	3	893	3	APOA5	11	116661734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	116661734	18344782	12694	23011											
APOA5	116519	broad.mit.edu	37	chr11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagagcccaggtgagcaCggcagccatgcttgccatta	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000227665.4	-	1	53	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	7					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGGTGAGCACGGCAGCCATG	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(19-21)Gtg>Atg		apolipoprotein A-V							57	49	51					11																	116662558		2201	4296	6497	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116662558C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.19G>A	11.37:g.116662558C>T	ENSP00000227665:p.Val7Met		OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1475	APOA5_ENST00000227665.4_Missense_Mutation_p.V7M	p.V7M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	2	91	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	7					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.19G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611190	0.46631	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.80480	-0.94;-0.94;-1.38	5.41	-1.14	0.09741	.	0.770143	0.11366	N	0.571410	T	0.74207	0.3686	M	0.75264	2.295	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.64145	-0.6476	10	0.62326	D	0.03	-5.4016	2.5289	0.04698	0.2099:0.3124:0.338:0.1397	.	7	Q6Q788	APOA5_HUMAN	M	7	ENSP00000227665:V7M;ENSP00000445002:V7M;ENSP00000399701:V7M	ENSP00000227665:V7M	V	-	1	0	APOA5	116167768	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.470000	0.06639	-0.355000	0.08199	-0.254000	0.11334	GTG		0.632	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			30	144	0	0	0	1	0	30	144					T	116662558	C	T	116662558	3	4	79	1	0	0	0	0	1	0	0	0	784	536	19	1	1093	1	APOA5	11	116662558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	116662558	18343958	12695	23012											
APOA4	337	broad.mit.edu	37	chr11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagcttctactcaccggCgacagccaccagggccaggg	12	15	2	1	rs180917395	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	16					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													T|||	4	0.000798722	0.0	0.0	5008	,	,		19052	0.004		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(46-48)Gcc>Acc		apolipoprotein A-IV							133	128	129					11																	116693862		2201	4292	6493	SO:0001583	missense	337							g.chr11:116693862C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.46G>A	11.37:g.116693862C>T	ENSP00000350425:p.Ala16Thr						p.A16T	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	1	160	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.46G>A	CCDS31681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	APOA4	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC		0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		99	693	0	0	0	1	0	99	693					T	116693862	C	T	116693862	3	4	79	1	0	0	0	0	1	0	0	0	783	768	27	1	1156	1	APOA4	11	116693862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31304	116693862	18312654	12696	23013											
SIK3	23387	broad.mit.edu	37	chr11	116718256	116718256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgactgagaactgcatcCgacatccgggcagagctaag	12	11	0	3	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_ENST00000375300.1_Silent_p.S1248S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0					ENST00000375300.1																			1	Substitution - coding silent(1)	p.S1296S(1)	lung(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3742-3744)tcG>tcA		SIK family kinase 3		C		6,4396	11.4+/-27.6	0,6,2195	180	162	168		3570	-7.1	1	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC		0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116718256C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3570G>A	11.37:g.116718256C>T						SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|AP006216.12_ENST00000444200.1_RNA	p.S1248S			Q9Y2K2	SIK3_HUMAN			22	3749	-			1190					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3744G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA		0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		130	687	0	0	0	1	0	130	687					T	116718256	C	T	116718256	2	4	79	1	0	0	0	0	0	0	0	1	14369	639	23	1		1	SIK3	11	116718256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24394	116718256	18288260	12697	23014											
PCSK7	9159	broad.mit.edu	37	chr11	117077055	117077055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaagacggtgaaacaGcctaccagcaccagggtctg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	672					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(2014-2016)ggC>ggT		proprotein convertase subtilisin/kexin type 7							42	50	47					11																	117077055		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117077055G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2016C>T	11.37:g.117077055G>A						PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	p.G672G	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	17	2646	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	672					B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.2016C>T	CCDS8382.1																																																																																				0.527	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		14	394	0	0	0	1	0	14	394					A	117077055	G	A	117077055	2	1	79	1	0	0	0	0	0	0	0	1	11647	958	34	2		2	PCSK7	11	117077055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358799	117077055	17929461	12698	23015											
RNF214	257160	broad.mit.edu	37	chr11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatggcagcgtctgaggTtgctggtgttgtggccaatg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000531452.1	+	2	63	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000530849.1_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	6							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCGTCTGAGGTTGCTGGTGTT	0.453																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(16-18)gTt>gCt		ring finger protein 214							157	159	159					11																	117105005		1991	4170	6161	SO:0001583	missense	257160						zinc ion binding	g.chr11:117105005T>C	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.17T>C	11.37:g.117105005T>C	ENSP00000431643:p.Val6Ala					RNF214_ENST00000531452.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A	p.V6A			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	1	27	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	6					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.17T>C	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933225	0.73442	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.64438	-0.08;0.63;-0.1;0.63	4.86	4.86	0.63082	.	.	.	.	.	T	0.66137	0.2759	N	0.22421	0.69	0.24531	N	0.994112	B;D	0.58268	0.135;0.982	B;D	0.70227	0.037;0.968	T	0.58053	-0.7704	9	0.87932	D	0	-1.7778	10.7639	0.46281	0.0:0.0:0.0:1.0	.	6;6	B4DTD1;Q8ND24	.;RN214_HUMAN	A	6	ENSP00000435361:V6A;ENSP00000431643:V6A;ENSP00000432903:V6A;ENSP00000300650:V6A	ENSP00000300650:V6A	V	+	2	0	RNF214	116610215	0.863000	0.29885	0.960000	0.40013	0.912000	0.54170	1.284000	0.33249	2.027000	0.59764	0.533000	0.62120	GTT		0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		112	552	0	0	0	1	0	112	552					C	117105005	T	C	117105005	3	2	79	1	0	0	0	0	1	0	0	0	13528	1725	60	4	19	4	RNF214	11	117105005	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27950	117105005	17901511	12699	23016											
BACE1	23621	broad.mit.edu	37	chr11	117165945	117165945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcagcaatgttggcacGcacagtgacgttggggccat	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117165945G>A	ENST00000313005.6	-	3	929	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000514464.1_Intron	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	157					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGTTGGCACGCACAGTGACG	0.592																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(469-471)Cgt>Tgt		beta-site APP-cleaving enzyme 1							200	152	168					11																	117165945		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117165945G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.469C>T	11.37:g.117165945G>A	ENSP00000318585:p.Arg157Cys					BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C	p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	3	929	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	157					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.469C>T	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390921|4.390921	0.82902|0.82902	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000504995|ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000513780	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.052098	.|0.64402	.|D	.|0.000001	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|P;D;D;P	.|0.68039	.|0.893;0.932;0.955;0.855	T|T	0.63668|0.63668	-0.6585|-0.6585	5|10	.|0.72032	.|D	.|0.01	.|.	12.2825|12.2825	0.54771|0.54771	0.0:0.0:0.7325:0.2675|0.0:0.0:0.7325:0.2675	.|.	.|57;57;157;157	.|F8W807;E9PE65;P56817;P56817-2	.|.;.;BACE1_HUMAN;.	V|C	86|157;57;157;57;157	.|ENSP00000318585:R157C;ENSP00000431848:R157C;ENSP00000422461:R57C;ENSP00000424536:R157C	.|ENSP00000318585:R157C	A|R	-|-	2|1	0|0	BACE1|BACE1	116671155|116671155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.410000|3.410000	0.52664|0.52664	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.592	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			16	472	0	0	0	1	0	16	472					A	117165945	G	A	117165945	3	1	79	1	0	0	0	0	1	0	0	0	1282	1087	38	1	1064	1	BACE1	11	117165945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60940	117165945	17840571	12700	23017											
BACE1	23621	broad.mit.edu	37	chr11	117166061	117166061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggtcccggtatgtgctgGacctgtggaaagaaggcaga	17	7	0	2	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	ENST00000313005.6	-	3	813	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	118					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTATGTGCTGGACCTGTGGAA	0.537																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(352-354)tCc>tTc		beta-site APP-cleaving enzyme 1							56	46	49					11																	117166061		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117166061G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.353C>T	11.37:g.117166061G>A	ENSP00000318585:p.Ser118Phe					BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F	p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	3	813	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	118					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.353C>T	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060153	0.93846	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.83	5.83	0.93111	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.91198	0.4989	10	0.87932	D	0	.	19.1044	0.93287	0.0:0.0:1.0:0.0	rs17857093	18;18;118;118;118;118;118	F8W807;E9PE65;Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;.;.;BACE1_HUMAN;.;.;.	F	118;18;118;18;118;118;118	ENSP00000318585:S118F;ENSP00000431848:S118F;ENSP00000422461:S18F;ENSP00000402228:S118F;ENSP00000424536:S118F;ENSP00000403685:S118F	ENSP00000318585:S118F	S	-	2	0	BACE1	116671271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.631000	0.98424	2.756000	0.94617	0.655000	0.94253	TCC		0.537	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			31	155	0	0	0	1	0	31	155					A	117166061	G	A	117166061	3	1	79	1	0	0	0	0	1	0	0	0	1282	1174	41	2	1180	2	BACE1	11	117166061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	117166061	17840455	12701	23018											
CEP164	22897	broad.mit.edu	37	chr11	117222548	117222548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatttcaacttcgccaaCgggcagtctatgtgggacca	9	11	2	0	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(235-237)aaC>aaT		centrosomal protein 164kDa		C		1,4401	2.1+/-5.4	0,1,2200	121	108	112		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117222548C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.237C>T	11.37:g.117222548C>T							p.N79N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	5	384	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	79			Interaction with ATRIP.|WW.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.237C>T	CCDS31683.1																																																																																				0.478	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		87	381	0	0	0	1	0	87	381					T	117222548	C	T	117222548	2	4	79	1	0	0	0	0	0	0	0	1	3258	535	19	1		1	CEP164	11	117222548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56487	117222548	17783968	12702	23019											
CEP164	22897	broad.mit.edu	37	chr11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccctgcaagccctccaGcccaggtgcagacagcagtc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	286					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(856-858)aGc>aAc		centrosomal protein 164kDa							90	94	93					11																	117241887		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241887G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.857G>A	11.37:g.117241887G>A	ENSP00000278935:p.Ser286Asn					CEP164_ENST00000533706.1_3'UTR	p.S286N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1004	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	286					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.857G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850435	0.32699	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60299	0.2	5.8	5.8	0.92144	.	0.107151	0.42420	D	0.000712	T	0.69133	0.3077	M	0.71581	2.175	0.27288	N	0.957925	D;P;D	0.57257	0.964;0.873;0.979	P;P;P	0.56563	0.637;0.544;0.801	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.5206	13.2253	0.59911	0.0:0.1592:0.8408:0.0	.	260;286;286	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	286;260;213	ENSP00000278935:S286N	ENSP00000278935:S286N	S	+	2	0	CEP164	116747097	0.868000	0.29978	0.837000	0.33122	0.058000	0.15608	2.306000	0.43673	2.732000	0.93576	0.650000	0.86243	AGC		0.552	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		92	481	0	0	0	1	0	92	481					A	117241887	G	A	117241887	3	1	79	1	0	0	0	0	1	0	0	0	3258	971	34	2	883	2	CEP164	11	117241887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19339	117241887	17764629	12703	23020											
DSCAML1	57453	broad.mit.edu	37	chr11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccactggcttgagtaccGgttccgggtgctgtgggctg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1743					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5407-5409)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							145	138	141					11																	117302397		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117302397G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5407C>T	11.37:g.117302397G>A	ENSP00000315465:p.Arg1803Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	p.R1803W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	31	5408	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1743					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5407C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675749	0.67928	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66099	-0.15;-0.19	4.82	4.82	0.62117	.	.	.	.	.	T	0.65365	0.2684	N	0.24115	0.695	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.68659	-0.5350	9	0.87932	D	0	.	11.7516	0.51852	0.0:0.0:0.7044:0.2956	.	1743	Q8TD84	DSCL1_HUMAN	W	1533;1803;1510	ENSP00000434335:R1533W;ENSP00000315465:R1803W	ENSP00000315465:R1803W	R	-	1	2	DSCAML1	116807607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.224000	0.42945	2.499000	0.84300	0.561000	0.74099	CGG		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		46	569	0	0	0	1	0	46	569					A	117302397	G	A	117302397	3	1	79	1	0	0	0	0	1	0	0	0	4785	1115	39	1	946	1	DSCAML1	11	117302397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60510	117302397	17704119	12704	23021											
DSCAML1	57453	broad.mit.edu	37	chr11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcatctgtcacagggaTggtggccttgtcatctcctg	11	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1682					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5224-5226)Atc>Ctc		Down syndrome cell adhesion molecule like 1							186	147	160					11																	117303203		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303203T>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5224A>C	11.37:g.117303203T>G	ENSP00000315465:p.Ile1742Leu					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	p.I1742L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5225	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1682					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5224A>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674435	0.47781	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62364	0.07;0.03	5.54	5.54	0.83059	.	.	.	.	.	T	0.40522	0.1120	N	0.08118	0	0.39866	D	0.973441	B	0.06786	0.001	B	0.10450	0.005	T	0.34725	-0.9817	9	0.27785	T	0.31	.	10.5674	0.45181	0.1441:0.0:0.0:0.8559	.	1682	Q8TD84	DSCL1_HUMAN	L	1472;1742;1449	ENSP00000434335:I1472L;ENSP00000315465:I1742L	ENSP00000315465:I1742L	I	-	1	0	DSCAML1	116808413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	2.097000	0.63578	0.482000	0.46254	ATC		0.488	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		57	349	0	0	0	1	0	57	349					G	117303203	T	G	117303203	3	3	79	1	0	0	0	0	1	0	0	0	4785	1464	51	4	1133	4	DSCAML1	11	117303203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	806	117303203	17703313	12705	23022											
DSCAML1	57453	broad.mit.edu	37	chr11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgatgtgggtgaagaGgtgttggtctttgctgaagg	19	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1487	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4639-4641)Ctc>Ttc		Down syndrome cell adhesion molecule like 1							166	147	153					11																	117308099		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308099G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4639C>T	11.37:g.117308099G>A	ENSP00000315465:p.Leu1547Phe					DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	p.L1547F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4640	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1487			Fibronectin type-III 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4639C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742166	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54479	0.57;0.57	4.45	4.45	0.53987	Fibronectin, type III (4);	.	.	.	.	T	0.68659	0.3025	M	0.75447	2.3	0.58432	D	0.999995	P	0.49185	0.92	P	0.57620	0.824	T	0.71244	-0.4650	9	0.44086	T	0.13	.	17.4654	0.87631	0.0:0.0:1.0:0.0	.	1487	Q8TD84	DSCL1_HUMAN	F	1277;1547;1254	ENSP00000434335:L1277F;ENSP00000315465:L1547F	ENSP00000315465:L1547F	L	-	1	0	DSCAML1	116813309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.195000	0.70347	0.655000	0.94253	CTC		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		71	380	0	0	0	1	0	71	380					A	117308099	G	A	117308099	3	1	79	1	0	0	0	0	1	0	0	0	4785	1000	35	2	1734	2	DSCAML1	11	117308099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4896	117308099	17698417	12706	23023											
DSCAML1	57453	broad.mit.edu	37	chr11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggcagcaccagctccGtgttgcgataccagcggatg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1234-1236)aCg>aTg		Down syndrome cell adhesion molecule like 1							97	82	87					11																	117392003		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392003G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1235C>T	11.37:g.117392003G>A	ENSP00000315465:p.Thr412Met					DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	p.T412M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1236	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	352			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1235C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193169	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30182	1.54;1.54	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51873	0.1700	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.66847	0.912;0.947	T	0.55945	-0.8060	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	142;352	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	142;412;119	ENSP00000434335:T142M;ENSP00000315465:T412M	ENSP00000315465:T412M	T	-	2	0	DSCAML1	116897213	1.000000	0.71417	0.942000	0.38095	0.958000	0.62258	6.316000	0.72857	2.417000	0.82017	0.609000	0.83330	ACG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		128	465	0	0	0	1	0	128	465					A	117392003	G	A	117392003	3	1	79	1	0	0	0	0	1	0	0	0	4785	1145	40	1	5218	1	DSCAML1	11	117392003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83904	117392003	17614513	12707	23024											
DSCAML1	57453	broad.mit.edu	37	chr11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacgtcagagatgtacaGcccgccgtggtaggtaataa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	182	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(724-726)Ctg>Atg		Down syndrome cell adhesion molecule like 1							99	88	92					11																	117403205		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117403205G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.724C>A	11.37:g.117403205G>T	ENSP00000315465:p.Leu242Met					DSCAML1_ENST00000527706.1_Intron	p.L242M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	4	725	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	182			Ig-like C2-type 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.724C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211823	0.79240	.	.	ENSG00000177103	ENST00000321322	D	0.92149	-2.98	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96213	0.8765	M	0.91972	3.26	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96062	0.9039	9	0.87932	D	0	.	9.6034	0.39619	0.1263:0.0:0.8737:0.0	.	182	Q8TD84	DSCL1_HUMAN	M	242	ENSP00000315465:L242M	ENSP00000315465:L242M	L	-	1	2	DSCAML1	116908415	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.166000	0.71896	2.688000	0.91661	0.655000	0.94253	CTG		0.547	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		15	311	1	0	7.93312e-07	1	8.20014e-07	15	311					T	117403205	G	T	117403205	3	4	79	1	0	0	0	0	1	0	0	0	4785	962	34	3	5737	3	DSCAML1	11	117403205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11202	117403205	17603311	12708	23025											
DSCAML1	57453	broad.mit.edu	37	chr11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttacctgctttgacgCggatgttggggctccggatc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	118	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(532-534)cGc>cAc		Down syndrome cell adhesion molecule like 1							91	92	92					11																	117651219		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651219C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.533G>A	11.37:g.117651219C>T	ENSP00000315465:p.Arg178His					DSCAML1_ENST00000527706.1_Intron	p.R178H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	534	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	118			Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.533G>A	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.363367|1.363367	0.24684|0.24684	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000525836|ENST00000321322	.|T	.|0.39997	.|1.05	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.01771|0.01771	-0.73|-0.73	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.14783|0.14783	-1.0460|-1.0460	6|9	0.87932|0.09843	D|T	0|0.71	.|.	18.9124|18.9124	0.92491|0.92491	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q8TD84	.|DSCL1_HUMAN	T|H	20|178	.|ENSP00000315465:R178H	ENSP00000436387:A20T|ENSP00000315465:R178H	A|R	-|-	1|2	0|0	DSCAML1|DSCAML1	117156429|117156429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.436000|2.436000	0.44819|0.44819	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		141	639	0	0	0	1	0	141	639					T	117651219	C	T	117651219	3	4	79	1	0	0	0	0	1	0	0	0	4785	768	27	1	5936	1	DSCAML1	11	117651219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248014	117651219	17355297	12709	23026											
IL10RA	3587	broad.mit.edu	37	chr11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctaccgggccagagtgCgggctgtggacggcagccgg	19	11	0	1	rs368287711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101			R -> W (in IBD28). {ECO:0000269|PubMed:23839161, ECO:0000269|PubMed:24785691}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(301-303)Cgg>Tgg		interleukin 10 receptor, alpha							76	65	69					11																	117860269		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860269C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.301C>T	11.37:g.117860269C>T	ENSP00000227752:p.Arg101Trp					IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000545409.1_Intron	p.R101W	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	421	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	101					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.301C>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018503	0.75275	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.77489	-1.1;-1.1	4.95	3.98	0.46160	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.065623	0.64402	D	0.000007	D	0.86293	0.5898	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87381	0.2357	10	0.72032	D	0.01	-30.1496	12.4145	0.55486	0.1665:0.8335:0.0:0.0	.	81;101	F5GYV8;Q13651	.;I10R1_HUMAN	W	101;81;81	ENSP00000227752:R101W;ENSP00000441397:R81W	ENSP00000227752:R101W	R	+	1	2	IL10RA	117365479	0.998000	0.40836	0.997000	0.53966	0.013000	0.08279	0.814000	0.27239	2.461000	0.83175	0.563000	0.77884	CGG		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			37	316	0	0	0	1	0	37	316					T	117860269	C	T	117860269	3	4	79	1	0	0	0	0	1	0	0	0	7650	759	27	1	311	1	IL10RA	11	117860269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209050	117860269	17146247	12710	23027											
IL10RA	3587	broad.mit.edu	37	chr11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcatcagccagcGtccctccccagagacccaag	6	18	4	1	rs576666901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19221	0.002		0.0	False		,,,				2504	0.0					ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(850-852)cGt>cAt		interleukin 10 receptor, alpha							90	73	79					11																	117869470		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869470G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.851G>A	11.37:g.117869470G>A	ENSP00000227752:p.Arg284His					IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H	p.R284H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	971	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	284					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.851G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152097	0.21371	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24538	1.85;1.85;1.85	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.44597	0.454;0.266	T	0.21314	-1.0249	10	0.15499	T	0.54	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	H	284;264;135;264	ENSP00000227752:R284H;ENSP00000441397:R264H;ENSP00000443019:R135H	ENSP00000227752:R284H	R	+	2	0	IL10RA	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT		0.582	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			52	247	0	0	0	1	0	52	247					A	117869470	G	A	117869470	3	1	79	1	0	0	0	0	1	0	0	0	7650	1145	40	1	877	1	IL10RA	11	117869470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9201	117869470	17137046	12711	23028											
TMPRSS4	56649	broad.mit.edu	37	chr11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctctcgctgagacagCctgtaggcagatgggctaca	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000437212.3	+	5	630	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.A137V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	139	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCTGAGACAGCCTGTAGGCAG	0.562																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(409-411)gCc>gTc		transmembrane protease, serine 4							75	57	63					11																	117975511		2200	4296	6496	SO:0001583	missense	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117975511C>T	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.416C>T	11.37:g.117975511C>T	ENSP00000416037:p.Ala139Val					TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.A139V	p.A137V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	5	675	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	139			SRCR.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	c.410C>T	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820641	0.50633	.	.	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000026	T	0.65984	0.2744	M	0.65975	2.015	0.46167	D	0.998909	P;D;D;D	0.89917	0.929;1.0;0.997;1.0	P;D;P;D	0.97110	0.591;0.997;0.788;1.0	T	0.63734	-0.6570	10	0.33940	T	0.23	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	114;99;139;137	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	V	137;99;139;139;86	ENSP00000435184:A137V;ENSP00000429209:A99V;ENSP00000416037:A139V;ENSP00000430547:A139V;ENSP00000428407:A86V	ENSP00000416037:A139V	A	+	2	0	TMPRSS4	117480721	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.113000	0.64640	2.403000	0.81681	0.557000	0.71058	GCC		0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		23	210	0	0	0	1	0	23	210					T	117975511	C	T	117975511	3	4	79	1	0	0	0	0	1	0	0	0	16301	739	26	2	434	2	TMPRSS4	11	117975511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106041	117975511	17031005	12712	23029											
SCN4B	6330	broad.mit.edu	37	chr11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacagggttacggggaGcaggaagaggcctgtgtaag	18	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	25					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTACGGGGAGCAGGAAGAGG	0.607											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324727.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(73-75)Ctc>Ttc		sodium channel, voltage-gated, type IV, beta subunit							93	82	86					11																	118015933		2200	4296	6496	SO:0001583	missense	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118015933G>A	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10592	protein-coding gene	gene with protein product		608256	"sodium channel, voltage-gated, type IV, beta"				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.73C>T	11.37:g.118015933G>A	ENSP00000322460:p.Leu25Phe		OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	SCN4B_ENST00000529878.1_Intron	p.L25F	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	2	219	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	25					E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	c.73C>T	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036964	0.19669	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	0.672	0.17935	.	0.656184	0.14631	N	0.307802	D	0.92522	0.7625	L	0.35723	1.085	0.23798	N	0.996815	B	0.06786	0.001	B	0.06405	0.002	T	0.81810	-0.0762	10	0.11794	T	0.64	-22.7509	3.3839	0.07264	0.117:0.4645:0.2591:0.1595	.	25	Q8IWT1	SCN4B_HUMAN	F	25	ENSP00000322460:L25F	ENSP00000322460:L25F	L	-	1	0	SCN4B	117521143	0.997000	0.39634	0.956000	0.39512	0.350000	0.29205	0.501000	0.22578	0.592000	0.29728	-0.175000	0.13238	CTC		0.607	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			68	296	0	0	0	1	0	68	296					A	118015933	G	A	118015933	3	1	79	1	0	0	0	0	1	0	0	0	13971	971	34	2	629	2	SCN4B	11	118015933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40422	118015933	16990583	12713	23030											
SCN2B	6327	broad.mit.edu	37	chr11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgcggtcttgaaaccGctccagcttcaggttaatga	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	94	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGAAACCGCTCCAGCTTC	0.542																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(280-282)Cgg>Tgg		sodium channel, voltage-gated, type II, beta subunit							89	75	80					11																	118038968		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118038968G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.280C>T	11.37:g.118038968G>A	ENSP00000278947:p.Arg94Trp						p.R94W	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	3	521	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	94			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.280C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290144	0.80914	.	.	ENSG00000149575	ENST00000278947	T	0.68181	-0.31	4.9	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174836	0.51477	D	0.000083	T	0.77412	0.4126	M	0.80616	2.505	0.58432	D	0.999999	D	0.71674	0.998	P	0.57502	0.822	T	0.79600	-0.1736	10	0.62326	D	0.03	-27.973	13.5706	0.61845	0.0:0.0:0.5934:0.4066	.	94	O60939	SCN2B_HUMAN	W	94	ENSP00000278947:R94W	ENSP00000278947:R94W	R	-	1	2	SCN2B	117544178	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.036000	0.64164	0.237000	0.21200	-0.169000	0.13324	CGG		0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		24	280	0	0	0	1	0	24	280					A	118038968	G	A	118038968	3	1	79	1	0	0	0	0	1	0	0	0	13967	1086	38	1	375	1	SCN2B	11	118038968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23035	118038968	16967548	12714	23031											
SCN2B	6327	broad.mit.edu	37	chr11	118039321	118039321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcctcagagcagttgttGcactcctggtaagtccagtt	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	72	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGTTGTTGCACTCCTGGT	0.607																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(214-216)tgC>tgT		sodium channel, voltage-gated, type II, beta subunit							181	171	175					11																	118039321		2200	4296	6496	SO:0001819	synonymous_variant	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118039321G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.216C>T	11.37:g.118039321G>A							p.C72C	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	2	457	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	72			Ig-like C2-type.		O75302|Q9UNN3	Silent	SNP	ENST00000278947.5	37	c.216C>T	CCDS8390.1																																																																																				0.607	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		163	637	0	0	0	1	0	163	637					A	118039321	G	A	118039321	2	1	79	1	0	0	0	0	0	0	0	1	13967	1311	46	2		2	SCN2B	11	118039321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	118039321	16967195	12715	23032											
AMICA1	120425	broad.mit.edu	37	chr11	118068807	118068807	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgtagaattcactgaaCtgcaagacatgaaaagcatg	9	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000356289.5	-	8	1085		c.e8-1		AMICA1_ENST00000526620.1_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000292067.7_Splice_Site	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATTCACTGAACTGCAAGACAT	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.e7-1		adhesion molecule, interacts with CXADR antigen 1							146	133	137					11																	118068807		2200	4296	6496	SO:0001630	splice_region_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068807C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.912-1G>T	11.37:g.118068807C>A			OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000356289.5_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site		NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1323	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Splice_Site	SNP	ENST00000356289.5	37		CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880212	0.33162	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9351	0.52868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMICA1	117574017	0.983000	0.35010	0.958000	0.39756	0.021000	0.10359	3.018000	0.49625	2.527000	0.85204	0.650000	0.86243	.		0.443	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	Intron	96	427	1	0	1.13762e-57	1	1.42504e-57	96	427					A	118068807	C	A	118068807	5	1	79	1	0	0	0	0	0	0	1	0	574	579	20	3	285	3	AMICA1	11	118068807	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29486	118068807	16937709	12716	23033											
AMICA1	120425	broad.mit.edu	37	chr11	118083625	118083625	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttagaaactcacctccaCttaccataacgacgaaatgg	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118083625C>T	ENST00000356289.5	-	3	217				AMICA1_ENST00000526620.1_Intron|AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000292067.7_Missense_Mutation_p.S3N	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCACCTCCACTTACCATAAC	0.408																																						ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(7-9)aGt>aAt		adhesion molecule, interacts with CXADR antigen 1							144	137	139					11																	118083625		2200	4296	6496	SO:0001627	intron_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118083625C>T	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.44-349G>A	11.37:g.118083625C>T						AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000356289.5_Intron|AMICA1_ENST00000526620.1_Intron	p.S3N	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	1	449	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	0					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.8G>A	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319867	0.41096	.	.	ENSG00000160593	ENST00000292067	D	0.97232	-4.3	3.32	1.19	0.21007	.	.	.	.	.	D	0.93752	0.8003	.	.	.	0.09310	N	0.999999	P	0.50819	0.939	P	0.45538	0.484	D	0.87505	0.2436	8	0.37606	T	0.19	.	3.4199	0.07389	0.2485:0.6008:0.0:0.1507	.	3	Q86YT9-2	.	N	3	ENSP00000292067:S3N	ENSP00000292067:S3N	S	-	2	0	AMICA1	117588835	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-0.371000	0.07513	0.535000	0.28714	0.655000	0.94253	AGT		0.408	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		28	637	0	0	0	1	0	28	637					T	118083625	C	T	118083625	1	4	79	0	1	0	0	0	0	0	0	0	574	565	20	2		2	AMICA1	11	118083625	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14818	118083625	16922891	12717	23034											
CD3E	916	broad.mit.edu	37	chr11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttccttttcaggtaatgaaGaaatgggtaagaagatttcc	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	27					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(79-81)Gaa>Taa		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						80	66	71					11																	118179150		2192	4293	6485	SO:0001587	stop_gained	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118179150G>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.79G>T	11.37:g.118179150G>T	ENSP00000354566:p.Glu27*					CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	4	370	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	27					A8K997	Nonsense_Mutation	SNP	ENST00000361763.4	37	c.79G>T	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135106	0.56828	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.19	0.081	0.14423	.	3.197390	0.00919	N	0.002561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.1578	0.10270	0.2967:0.1715:0.5318:0.0	.	.	.	.	X	27	.	ENSP00000354566:E27X	E	+	1	0	CD3E	117684360	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.268000	0.02836	0.027000	0.15297	0.561000	0.74099	GAA		0.393	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		5	37	1	0	4.096e-09	1	4.30383e-09	5	37					T	118179150	G	T	118179150	4	4	79	1	0	0	0	0	0	1	0	0	3020	943	33	3	89	3	CD3E	11	118179150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95525	118179150	16827366	12718	23035											
UBE4A	9354	broad.mit.edu	37	chr11	118247314	118247314	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaaagaaacctgtttgatCccagctgtgcaggagccgaa	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000431736.2	+	10	1569	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1474-1476)atC>atA		ubiquitination factor E4A							117	119	118					11																	118247314		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118247314C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1497C>A	11.37:g.118247314C>A						UBE4A_ENST00000431736.2_Silent_p.I499I	p.I492I	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	10	1607	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	492						Silent	SNP	ENST00000431736.2	37	c.1476C>A	CCDS8396.1																																																																																				0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		103	445	1	0	7.34945e-47	1	9.03725e-47	103	445					A	118247314	C	A	118247314	2	1	79	1	0	0	0	0	0	0	0	1	16936	845	30	3		3	UBE4A	11	118247314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68164	118247314	16759202	12719	23036											
UBE4A	9354	broad.mit.edu	37	chr11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccagagtcactgtggataGatccaccattgcaagacatt	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000431736.2	+	19	3140	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K	UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K|UBE4A_ENST00000252108.3_Missense_Mutation_p.R1016K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTGTGGATAGATCCACCATT	0.458																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(3046-3048)aGa>aAa		ubiquitination factor E4A							162	148	153					11																	118263583		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263583G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3068G>A	11.37:g.118263583G>A	ENSP00000387362:p.Arg1023Lys					UBE4A_ENST00000431736.2_Missense_Mutation_p.R1023K|UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K	p.R1016K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3178	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1016			U-box.			Missense_Mutation	SNP	ENST00000431736.2	37	c.3047G>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884896	0.97068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.68181	-0.27;-0.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.82823	2.61	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.51866	0.682;0.6	T	0.80625	-0.1299	10	0.52906	T	0.07	-8.8278	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1016;1023	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1016;1023;488	ENSP00000252108:R1016K;ENSP00000387362:R1023K	ENSP00000252108:R1016K	R	+	2	0	UBE4A	117768793	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	AGA		0.458	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		99	465	0	0	0	1	0	99	465					A	118263583	G	A	118263583	3	1	79	1	0	0	0	0	1	0	0	0	16936	942	33	2	3138	2	UBE4A	11	118263583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16269	118263583	16742933	12720	23037											
MLL	4297	broad.mit.edu	37	chr11	118355026	118355026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggatcagagtggacttTaaggtaaaggtgttcagtga	13	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118355026T>C	ENST00000389506.5	+	9	4215	c.4215T>C	c.(4213-4215)ttT>ttC	p.F1405F	KMT2A_ENST00000534358.1_Silent_p.F1405F|KMT2A_ENST00000354520.4_Silent_p.F1405F|KMT2A_ENST00000420751.2_3'UTR			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1405					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGTGGACTTTAAGGTAAAGG	0.393																																						ENST00000534358.1																			0											c.(4213-4215)ttT>ttC		lysine (K)-specific methyltransferase 2A							68	63	65					11																	118355026		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118355026T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4215T>C	11.37:g.118355026T>C						KMT2A_ENST00000354520.4_Silent_p.F1405F|KMT2A_ENST00000389506.5_Silent_p.F1405F|KMT2A_ENST00000420751.2_3'UTR	p.F1405F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					9	4238	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.4215T>C	CCDS31686.1																																																																																				0.393	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		62	232	0	0	0	1	0	62	232					C	118355026	T	C	118355026	2	2	79	1	0	0	0	0	0	0	0	1	9661	1751	61	4		4	MLL	11	118355026	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91443	118355026	16651490	12721	23038											
MLL	4297	broad.mit.edu	37	chr11	118373499	118373499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagcagtccagtgcttcaGacttggtgtccaagagctcc	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118373499G>A	ENST00000389506.5	+	27	6883	c.6883G>A	c.(6883-6885)Gac>Aac	p.D2295N	KMT2A_ENST00000534358.1_Missense_Mutation_p.D2298N|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2257N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2295					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGTGCTTCAGACTTGGTGTC	0.448																																						ENST00000534358.1																			0											c.(6892-6894)Gac>Aac		lysine (K)-specific methyltransferase 2A							66	64	65					11																	118373499		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118373499G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6883G>A	11.37:g.118373499G>A	ENSP00000374157:p.Asp2295Asn					KMT2A_ENST00000354520.4_Missense_Mutation_p.D2257N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2295N	p.D2298N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	6915	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6892G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487517	0.44249	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.64;-1.64;-1.62	5.85	5.85	0.93711	.	0.271361	0.39083	N	0.001467	T	0.75874	0.3909	N	0.19112	0.55	0.46279	D	0.998968	P;P	0.49090	0.919;0.919	B;B	0.40901	0.343;0.343	T	0.79574	-0.1747	10	0.62326	D	0.03	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2298;2295	E9PQG7;Q03164	.;MLL1_HUMAN	N	2298;2295;2257;1205	ENSP00000436786:D2298N;ENSP00000374157:D2295N;ENSP00000346516:D2257N	ENSP00000346516:D2257N	D	+	1	0	MLL	117878709	1.000000	0.71417	0.994000	0.49952	0.424000	0.31475	5.068000	0.64364	2.767000	0.95098	0.655000	0.94253	GAC		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		70	312	0	0	0	1	0	70	312					A	118373499	G	A	118373499	3	1	79	1	0	0	0	0	1	0	0	0	9661	942	33	2	6989	2	MLL	11	118373499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18473	118373499	16633017	12722	23039											
MLL	4297	broad.mit.edu	37	chr11	118374332	118374332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggtccagtggcccaAccaagccccaataatacctc	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118374332A>G	ENST00000389506.5	+	27	7716	c.7716A>G	c.(7714-7716)caA>caG	p.Q2572Q	KMT2A_ENST00000534358.1_Silent_p.Q2575Q|KMT2A_ENST00000354520.4_Silent_p.Q2534Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2572					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGTGGCCCAACCAAGCCCCA	0.458																																						ENST00000534358.1																			0											c.(7723-7725)caA>caG		lysine (K)-specific methyltransferase 2A							62	63	62					11																	118374332		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118374332A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7716A>G	11.37:g.118374332A>G						KMT2A_ENST00000354520.4_Silent_p.Q2534Q|KMT2A_ENST00000389506.5_Silent_p.Q2572Q	p.Q2575Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7748	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.7725A>G	CCDS31686.1																																																																																				0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		68	286	0	0	0	1	0	68	286					G	118374332	A	G	118374332	2	3	79	1	0	0	0	0	0	0	0	1	9661	40	2	4		4	MLL	11	118374332	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	118374332	16632184	12723	23040											
IFT46	56912	broad.mit.edu	37	chr11	118425964	118425964	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtcctagtactcaccTactgatgtactggaagagtt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264021.3	-	5	677	c.259A>C	c.(259-261)Agg>Cgg	p.R87R	IFT46_ENST00000264020.2_Splice_Site_p.R138R|IFT46_ENST00000530872.1_Splice_Site_p.R138R	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	87					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.e6+1		intraflagellar transport 46 homolog (Chlamydomonas)							108	106	107					11																	118425964		2200	4295	6495	SO:0001630	splice_region_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118425964T>G	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.260+1A>C	11.37:g.118425964T>G						IFT46_ENST00000264021.3_Splice_Site_p.R87_splice|IFT46_ENST00000530872.1_Splice_Site_p.R138_splice	p.R138_splice	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			6	789	-			87					A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	37	c.413_splice	CCDS53718.1																																																																																				0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153	Silent	60	291	0	0	0	1	0	60	291					G	118425964	T	G	118425964	5	3	79	1	0	0	0	0	0	0	1	0	7590	1536	53	4	687	4	IFT46	11	118425964	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51632	118425964	16580552	12724	23041											
IFT46	56912	broad.mit.edu	37	chr11	118428591	118428591	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggagcctgtggcatGccctcccttaggacctgaag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118428591G>A	ENST00000264021.3	-	4	464				IFT46_ENST00000264020.2_Silent_p.G20G|IFT46_ENST00000530872.1_Silent_p.G20G|IFT46_ENST00000527868.1_5'Flank	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46						cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTGTGGCATGCCCTCCCTTA	0.498																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(58-60)ggC>ggT		intraflagellar transport 46 homolog (Chlamydomonas)							167	164	165					11																	118428591		2200	4295	6495	SO:0001627	intron_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118428591G>A	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.46-831C>T	11.37:g.118428591G>A						IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.G20G	p.G20G	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			4	437	-			15					A8K0F6|Q9H6V5	Silent	SNP	ENST00000264021.3	37	c.60C>T	CCDS53718.1																																																																																				0.498	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		172	766	0	0	0	1	0	172	766					A	118428591	G	A	118428591	1	1	79	0	1	0	0	0	0	0	0	0	7590	1306	46	2		2	IFT46	11	118428591	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	118428591	16577925	12725	23042											
ARCN1	372	broad.mit.edu	37	chr11	118453977	118453977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgcttttgatgaaattgtCgcactgggataccgggagaa	12	6	0	3	rs200580338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000264028.4	+	3	446	c.351C>T	c.(349-351)gtC>gtT	p.V117V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Silent_p.V158V|ARCN1_ENST00000392859.3_Silent_p.V29V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	117					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGAAATTGTCGCACTGGGAT	0.428																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(472-474)gtC>gtT		archain 1		C	,	0,4400		0,0,2200	147	141	143		87,351	-11.6	0.2	11		143	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	ARCN1	NM_001142281.1,NM_001655.4	,	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	,	29/424,117/512	118453977	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118453977C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.351C>T	11.37:g.118453977C>T						ARCN1_ENST00000264028.4_Silent_p.V117V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V	p.V158V			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	639	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	117					B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	c.474C>T	CCDS8400.1																																																																																				0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			70	321	0	0	0	1	0	70	321					T	118453977	C	T	118453977	2	4	79	1	0	0	0	0	0	0	0	1	842	871	31	1		1	ARCN1	11	118453977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25386	118453977	16552539	12726	23043											
ARCN1	372	broad.mit.edu	37	chr11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagctaaggctgagatgCgtcgtaaagcaaaggaatta	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000264028.4	+	4	573	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.R201C|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	160					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTGAGATGCGTCGTAAAGC	0.443																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(601-603)Cgt>Tgt		archain 1							120	106	111					11																	118454554		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118454554C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.478C>T	11.37:g.118454554C>T	ENSP00000264028:p.Arg160Cys					ARCN1_ENST00000264028.4_Missense_Mutation_p.R160C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	p.R201C			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	5	766	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	160					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.601C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020500	0.75275	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33216	1.43;1.42;1.43	6.01	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.989	P;P;P	0.58266	0.548;0.836;0.517	T	0.57075	-0.7873	10	0.87932	D	0	-12.0251	16.3526	0.83220	0.3535:0.6465:0.0:0.0	.	72;201;160	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	72;201;160;160	ENSP00000376599:R72C;ENSP00000352385:R201C;ENSP00000264028:R160C	ENSP00000264028:R160C	R	+	1	0	ARCN1	117959764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.781000	0.38644	0.846000	0.35142	-0.175000	0.13238	CGT		0.443	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			38	406	0	0	0	1	0	38	406					T	118454554	C	T	118454554	3	4	79	1	0	0	0	0	1	0	0	0	842	768	27	1	492	1	ARCN1	11	118454554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577	118454554	16551962	12727	23044											
PHLDB1	23187	broad.mit.edu	37	chr11	118498785	118498785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcagtgagcgggtgCtaacaaccagcccctcacgc	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	416								p.L416V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637																																						ENST00000361417.2																			1	Substitution - Missense(1)	p.L416V(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1246-1248)Cta>Tta		pleckstrin homology-like domain, family B, member 1							72	75	74					11																	118498785		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498785C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1246C>T	11.37:g.118498785C>T						PHLDB1_ENST00000356063.5_Silent_p.L416L	p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1657	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	416					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1246C>T	CCDS8401.1																																																																																				0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		172	720	0	0	0	1	0	172	720					T	118498785	C	T	118498785	2	4	79	1	0	0	0	0	0	0	0	1	11893	796	28	2		2	PHLDB1	11	118498785	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44231	118498785	16507731	12728	23045											
PHLDB1	23187	broad.mit.edu	37	chr11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagtggatcagctgcaGgagaagctggtggccttgga	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2329-2331)caG>caT		pleckstrin homology-like domain, family B, member 1							90	77	81					11																	118502965		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118502965G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2331G>T	11.37:g.118502965G>T	ENSP00000354498:p.Gln777His					PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H|PHLDB1_ENST00000534672.1_3'UTR	p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	10	2742	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	777					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2331G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557486	0.65425	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.32515	1.45;1.45	5.15	4.24	0.50183	.	0.113485	0.64402	D	0.000008	T	0.45538	0.1347	L	0.42686	1.345	0.80722	D	1	D;D;D;B	0.76494	0.984;0.999;0.995;0.267	P;D;D;B	0.70935	0.73;0.971;0.919;0.086	T	0.32214	-0.9915	10	0.42905	T	0.14	-32.3819	13.8592	0.63550	0.0736:0.0:0.9264:0.0	.	521;777;777;777	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	777;536;99;777	ENSP00000354498:Q777H;ENSP00000348359:Q777H	ENSP00000348359:Q777H	Q	+	3	2	PHLDB1	118008175	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.264000	0.65513	1.182000	0.42928	-0.254000	0.11334	CAG		0.627	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		51	249	1	0	2.29192e-23	1	2.60423e-23	51	249					T	118502965	G	T	118502965	3	4	79	1	0	0	0	0	1	0	0	0	11893	991	35	3	2361	3	PHLDB1	11	118502965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4180	118502965	16503551	12729	23046											
PHLDB1	23187	broad.mit.edu	37	chr11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttcctaccaggtctgCcgtggctacttggtcaagat	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3775-3777)tgC>tgA		pleckstrin homology-like domain, family B, member 1							144	124	131					11																	118521155		2200	4295	6495	SO:0001587	stop_gained	23187							g.chr11:118521155C>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3777C>A	11.37:g.118521155C>A	ENSP00000354498:p.Cys1259*					PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*	p.C1259*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	21	4188	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1259			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.3777C>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804019	0.96967	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.941	16.4284	0.83832	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1033;623;1212;310;402	.	ENSP00000348359:C1212X	C	+	3	2	PHLDB1	118026365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.831000	0.55776	2.401000	0.81631	0.655000	0.94253	TGC		0.522	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		43	442	1	0	4.67007e-22	1	5.27622e-22	43	442					A	118521155	C	A	118521155	4	1	79	1	0	0	0	0	0	1	0	0	11893	747	26	3	3851	3	PHLDB1	11	118521155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18190	118521155	16485361	12730	23047											
TREH	23187	broad.mit.edu	37	chr11	118530097	118530097	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgatgaccaggtcctGcaggggggcccaggcattgg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118530097G>A	ENST00000361417.2	+	0	5753				TREH_ENST00000529101.1_Nonsense_Mutation_p.Q472*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*|TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q441*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCCTGCAGGGGGGCC	0.612											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1414-1416)Cag>Tag		trehalase (brush-border membrane glycoprotein)																																				SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530097G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530097G>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*	p.Q472*			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	12	1459	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	472					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1414C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566916	0.98361	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	.	.	.	5.82	5.82	0.92795	.	0.060400	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.9767	18.8769	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	472;349;472;349;441;441	.	ENSP00000264029:Q472X	Q	-	1	0	TREH	118035307	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.583000	0.74053	2.757000	0.94681	0.655000	0.94253	CAG		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		6	77	0	0	0	1	0	6	77					A	118530097	G	A	118530097	1	1	79	0	1	0	0	0	0	0	0	0	16522	1328	46	2		2	TREH	11	118530097	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8942	118530097	16476419	12731	23048											
DDX6	1656	broad.mit.edu	37	chr11	118625471	118625471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtattctgccacatacaGgctcttatcaatgttgctcg	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000526070.2	-	13	1762	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000264018.4_Silent_p.L468L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	468	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(1402-1404)Ctg>Ttg		DEAD (Asp-Glu-Ala-Asp) box helicase 6							162	155	157					11																	118625471		1865	4099	5964	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118625471G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1402C>T	11.37:g.118625471G>A						DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000526070.2_Silent_p.L468L	p.L468L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	13	1707	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	468			Helicase C-terminal.		Q5D048	Silent	SNP	ENST00000526070.2	37	c.1402C>T	CCDS44751.1																																																																																				0.428	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		115	584	0	0	0	1	0	115	584					A	118625471	G	A	118625471	2	1	79	1	0	0	0	0	0	0	0	1	4388	991	35	2		2	DDX6	11	118625471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95374	118625471	16381045	12732	23049											
BCL9L	283149	broad.mit.edu	37	chr11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtatgcgtcgcccatgcGcccagccatggctttgccca	12	15	0	0	rs566574462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000334801.3	-	8	4826	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3862-3864)Cgc>Tgc		B-cell CLL/lymphoma 9-like							22	22	22					11																	118769762		2200	4293	6493	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769762G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3862C>T	11.37:g.118769762G>A	ENSP00000335320:p.Arg1288Cys					BCL9L_ENST00000526143.1_5'UTR	p.R1288C	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4826	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1288			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3862C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566358	0.45694	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.64803	-0.12	3.08	3.08	0.35506	.	0.179734	0.26159	N	0.025993	T	0.48840	0.1522	N	0.08118	0	0.58432	D	0.999997	D;B	0.65815	0.995;0.291	P;B	0.50754	0.649;0.022	T	0.55554	-0.8123	10	0.48119	T	0.1	-8.6842	12.4142	0.55483	0.0:0.0:1.0:0.0	.	1283;1288	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	1288;1251;534;1288;1243	ENSP00000335320:R1288C	ENSP00000335320:R1288C	R	-	1	0	BCL9L	118274972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.182000	0.50910	2.016000	0.59253	0.305000	0.20034	CGC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		26	97	0	0	0	1	0	26	97					A	118769762	G	A	118769762	3	1	79	1	0	0	0	0	1	0	0	0	1383	1087	38	1	641	1	BCL9L	11	118769762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144291	118769762	16236754	12733	23050											
BCL9L	283149	broad.mit.edu	37	chr11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggggccgctaggcGggagggtacctacagaaacg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1045	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3133-3135)cCg>cTg		B-cell CLL/lymphoma 9-like							27	31	30					11																	118770898		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770898G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3134C>T	11.37:g.118770898G>A	ENSP00000335320:p.Pro1045Leu					BCL9L_ENST00000526143.1_5'UTR	p.P1045L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4098	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1045			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3134C>T	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988417|2.988417	0.53934|0.53934	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.42513|.	0.97|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.43747|.	D|.	0.000530|.	T|T	0.46347|0.46347	0.1388|0.1388	N|N	0.11560|0.11560	0.145|0.145	0.46586|0.46586	D|D	0.999118|0.999118	D;D|.	0.61080|.	0.989;0.981|.	P;B|.	0.48840|.	0.592;0.388|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.87932|.	D|.	0|.	-12.8441|-12.8441	17.1466|17.1466	0.86767|0.86767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1045|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	L|C	1045;1008;338;1045;1045|65	ENSP00000335320:P1045L|.	ENSP00000335320:P1045L|.	P|R	-|-	2|1	0|0	BCL9L|BCL9L	118276108|118276108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	5.300000|5.300000	0.65721|0.65721	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		23	178	0	0	0	1	0	23	178					A	118770898	G	A	118770898	3	1	79	1	0	0	0	0	1	0	0	0	1383	1116	39	1	1373	1	BCL9L	11	118770898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	118770898	16235618	12734	23051											
BCL9L	283149	broad.mit.edu	37	chr11	118772712	118772712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatccatgggcccccgCagctgcgcacccattccagg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	ENST00000334801.3	-	6	2704	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	580					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGCCCCCGCAGCTGCGCAC	0.647																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1738-1740)ctG>ctA		B-cell CLL/lymphoma 9-like							41	40	40					11																	118772712		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772712C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1740G>A	11.37:g.118772712C>T						BCL9L_ENST00000526143.1_5'UTR	p.L580L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2704	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	580					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.1740G>A	CCDS8403.1																																																																																				0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		24	135	0	0	0	1	0	24	135					T	118772712	C	T	118772712	2	4	79	1	0	0	0	0	0	0	0	1	1383	697	25	2		2	BCL9L	11	118772712	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1814	118772712	16233804	12735	23052											
BCL9L	283149	broad.mit.edu	37	chr11	118773616	118773616	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggggcactttagggGcctgcagaaggacaaagaga	19	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.836C>A	c.(835-837)gCc>gAc	p.A279D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	279					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACTTTAGGGGCCTGCAGAAG	0.677																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.e6-1		B-cell CLL/lymphoma 9-like							13	16	15					11																	118773616		2199	4294	6493	SO:0001630	splice_region_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773616G>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.835-1C>A	11.37:g.118773616G>T						BCL9L_ENST00000526143.1_5'UTR	p.A279_splice	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	1800	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	279					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Splice_Site	SNP	ENST00000334801.3	37	c.834_splice	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296060	0.23650	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65549	-0.16	4.1	2.22	0.28083	.	0.000000	0.44902	D	0.000418	T	0.40473	0.1118	N	0.24115	0.695	0.27323	N	0.956973	P;B	0.35575	0.51;0.376	B;B	0.34931	0.192;0.094	T	0.21552	-1.0242	10	0.17832	T	0.49	-2.3448	6.8377	0.23945	0.2935:0.0:0.7065:0.0	.	274;279	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	279;242;279;279	ENSP00000335320:A279D	ENSP00000335320:A279D	A	-	2	0	BCL9L	118278826	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	3.457000	0.53007	0.403000	0.25479	0.305000	0.20034	GCC		0.677	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	Missense_Mutation	18	89	1	0	5.03518e-11	1	5.3609e-11	18	89					T	118773616	G	T	118773616	5	4	79	1	0	0	0	0	0	0	1	0	1383	1217	42	3	3675	3	BCL9L	11	118773616	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	118773616	16232900	12736	23053											
CCDC84	338657	broad.mit.edu	37	chr11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggtgaaaggtttggattCctatgaagaaaaggaggata	13	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438																																						ENST00000334418.1																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5						c.(415-417)tCc>tTc		coiled-coil domain containing 84							95	94	94					11																	118881506		2200	4295	6495	SO:0001583	missense	338657							g.chr11:118881506C>T	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.416C>T	11.37:g.118881506C>T	ENSP00000334767:p.Ser139Phe					CCDC84_ENST00000580556.1_3'UTR	p.S139F	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	4	472	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	139						Missense_Mutation	SNP	ENST00000334418.1	37	c.416C>T	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022775	0.75275	.	.	ENSG00000186166	ENST00000334418	T	0.45668	0.89	5.47	5.47	0.80525	.	0.438718	0.25419	N	0.030807	T	0.46464	0.1394	L	0.44542	1.39	0.33287	D	0.563067	P	0.39883	0.693	P	0.46975	0.533	T	0.60994	-0.7152	10	0.62326	D	0.03	-13.1838	14.8245	0.70101	0.0:1.0:0.0:0.0	.	139	Q86UT8	CCD84_HUMAN	F	139	ENSP00000334767:S139F	ENSP00000334767:S139F	S	+	2	0	CCDC84	118386716	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	1.030000	0.30153	2.573000	0.86826	0.563000	0.77884	TCC		0.438	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		38	237	0	0	0	1	0	38	237					T	118881506	C	T	118881506	3	4	79	1	0	0	0	0	1	0	0	0	2865	855	30	2	430	2	CCDC84	11	118881506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107890	118881506	16125010	12737	23054											
HYOU1	10525	broad.mit.edu	37	chr11	118919076	118919076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactcgggctggtacaGcttgtcctggggagggggac	18	9	0	0	rs370754185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000404233.3	-	20	2384	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_ENST00000525859.1_Silent_p.L692L|HYOU1_ENST00000529972.1_Silent_p.L692L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	754					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2260-2262)Ctg>Ttg		hypoxia up-regulated 1		G	,	0,4400		0,0,2200	82	81	81		2260,2260	4.6	1	11		81	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	HYOU1	NM_001130991.1,NM_006389.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	754/1000,754/1000	118919076	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919076G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2260C>T	11.37:g.118919076G>A						HYOU1_ENST00000529972.1_Silent_p.L692L|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L	p.L754L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	20	2384	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	754					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2260C>T	CCDS8408.1																																																																																				0.627	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		106	420	0	0	0	1	0	106	420					A	118919076	G	A	118919076	2	1	79	1	0	0	0	0	0	0	0	1	7500	962	34	2		2	HYOU1	11	118919076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37570	118919076	16087440	12738	23055											
VPS11	55823	broad.mit.edu	37	chr11	118949921	118949921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaactacagaaacagagCcagcagattgcacaggatga	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	ENST00000300793.6	+	15	2388	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	783					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGAAACAGAGCCAGCAGATTG	0.602																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2344-2346)agC>agT		vacuolar protein sorting 11 homolog (S. cerevisiae)							36	39	38					11																	118949921		2088	4223	6311	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949921C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2346C>T	11.37:g.118949921C>T						VPS11_ENST00000527798.1_3'UTR	p.S782S	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2388	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	783					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2346C>T																																																																																					0.602	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		24	97	0	0	0	1	0	24	97					T	118949921	C	T	118949921	2	4	79	1	0	0	0	0	0	0	0	1	17242	738	26	2		2	VPS11	11	118949921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30845	118949921	16056595	12739	23056											
C2CD2L	1798	broad.mit.edu	37	chr11	118978770	118978770	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaactggcagcgggcttggGtgcgagcgctgaacgagcag	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118978770G>T	ENST00000409993.2	-	0	271				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Missense_Mutation_p.V107L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCGGGCTTGGGTGCGAGCGCT	0.662																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(319-321)Gtg>Ttg		C2CD2-like							22	25	24					11																	118978770		2143	4221	6364	SO:0001623	5_prime_UTR_variant	9854					integral to membrane		g.chr11:118978770G>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.-1281C>A	11.37:g.118978770G>T						DPAGT1_ENST00000409993.2_5'UTR	p.V107L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			1	678	+			107					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.319G>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145253	0.77888	.	.	ENSG00000172375	ENST00000336702	T	0.24908	1.83	4.63	3.72	0.42706	.	0.372499	0.27764	N	0.017957	T	0.28732	0.0712	L	0.40543	1.245	0.80722	D	1	P;P	0.50528	0.936;0.936	P;P	0.50405	0.64;0.64	T	0.03240	-1.1057	10	0.72032	D	0.01	-5.5096	9.8818	0.41238	0.096:0.0:0.904:0.0	.	107;107	O14523;O14523-2	C2C2L_HUMAN;.	L	107	ENSP00000338885:V107L	ENSP00000338885:V107L	V	+	1	0	C2CD2L	118483980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.226000	0.42963	1.171000	0.42768	0.563000	0.77884	GTG		0.662	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		42	235	1	0	5.78141e-17	1	6.36782e-17	42	235					T	118978770	G	T	118978770	1	4	79	0	1	0	0	0	0	0	0	0	2160	1261	44	3		3	C2CD2L	11	118978770	5'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28849	118978770	16027746	12740	23057											
C2CD2L	9854	broad.mit.edu	37	chr11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagctgaccctcaaagtgCtgaggagcagcagctgtgga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000528586.1	+	4	374	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M			O14523	C2C2L_HUMAN	C2CD2-like	354						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1060-1062)Ctg>Atg		C2CD2-like							44	49	47					11																	118983078		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118983078C>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.304C>A	11.37:g.118983078C>A	ENSP00000433600:p.Leu102Met					C2CD2L_ENST00000528586.1_Missense_Mutation_p.L102M	p.L354M	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			8	1419	+			354					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1060C>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193660	0.58017	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.248717	0.34200	N	0.004165	T	0.40347	0.1113	L	0.27053	0.805	0.40008	D	0.975241	P;P	0.37158	0.585;0.585	P;P	0.48425	0.577;0.577	T	0.19160	-1.0314	10	0.31617	T	0.26	-18.7603	11.3936	0.49827	0.0:0.9181:0.0:0.0819	.	354;354	O14523;O14523-2	C2C2L_HUMAN;.	M	354;102	ENSP00000338885:L354M;ENSP00000433600:L102M	ENSP00000338885:L354M	L	+	1	2	C2CD2L	118488288	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.738000	0.26158	2.731000	0.93534	0.591000	0.81541	CTG		0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		37	213	1	0	8.73648e-17	1	9.61379e-17	37	213					A	118983078	C	A	118983078	3	1	79	1	0	0	0	0	1	0	0	0	2160	796	28	3	1090	3	C2CD2L	11	118983078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	118983078	16023438	12741	23058											
C2CD2L	9854	broad.mit.edu	37	chr11	118983574	118983574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccggccccgtatagaCggcaaattaggtaaagagaa	11	10	0	2	rs367672186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000528586.1	+	6	691	c.621C>T	c.(619-621)gaC>gaT	p.D207D	C2CD2L_ENST00000336702.3_Silent_p.D459D			O14523	C2C2L_HUMAN	C2CD2-like	459						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCGTATAGACGGCAAATTAG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.0		0.0	False		,,,				2504	0.001					ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1375-1377)gaC>gaT		C2CD2-like		C		0,4400		0,0,2200	56	47	50		1377	1.3	1	11		50	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		459/708	118983574	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118983574C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.621C>T	11.37:g.118983574C>T						C2CD2L_ENST00000528586.1_Silent_p.D207D	p.D459D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			10	1736	+			459					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1377C>T																																																																																					0.572	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		30	248	0	0	0	1	0	30	248					T	118983574	C	T	118983574	2	4	79	1	0	0	0	0	0	0	0	1	2160	535	19	1		1	C2CD2L	11	118983574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496	118983574	16022942	12742	23059											
C2CD2L	9854	broad.mit.edu	37	chr11	118984415	118984415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaatacctcccatagCagcagccgtgagtggggaat	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000528586.1	+	7	796	c.726C>T	c.(724-726)agC>agT	p.S242S	C2CD2L_ENST00000336702.3_Silent_p.S494S			O14523	C2C2L_HUMAN	C2CD2-like	494						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1480-1482)agC>agT		C2CD2-like							91	89	90					11																	118984415		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984415C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.726C>T	11.37:g.118984415C>T						C2CD2L_ENST00000528586.1_Silent_p.S242S	p.S494S	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			11	1841	+			494					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1482C>T																																																																																					0.597	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		70	351	0	0	0	1	0	70	351					T	118984415	C	T	118984415	2	4	79	1	0	0	0	0	0	0	0	1	2160	709	25	2		2	C2CD2L	11	118984415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	118984415	16022101	12743	23060											
C2CD2L	9854	broad.mit.edu	37	chr11	118984608	118984608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccctgtagcagagacAgcgattcgccagctgacaga	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000528586.1	+	8	847	c.777A>G	c.(775-777)acA>acG	p.T259T	C2CD2L_ENST00000336702.3_Silent_p.T512T			O14523	C2C2L_HUMAN	C2CD2-like	511						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1534-1536)acA>acG		C2CD2-like							54	58	57					11																	118984608		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984608A>G	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.777A>G	11.37:g.118984608A>G						C2CD2L_ENST00000528586.1_Silent_p.T259T	p.T512T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			12	1895	+			511					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1536A>G																																																																																					0.567	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		52	283	0	0	0	1	0	52	283					G	118984608	A	G	118984608	2	3	79	1	0	0	0	0	0	0	0	1	2160	175	7	4		4	C2CD2L	11	118984608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	118984608	16021908	12744	23061											
HINFP	25988	broad.mit.edu	37	chr11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattgcgggaccacatgcGcaaccatggtgagtggcctg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000350777.2	+	6	809	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	249					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(745-747)cGc>cAc		histone H4 transcription factor							104	98	100					11																	119003275		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003275G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.746G>A	11.37:g.119003275G>A	ENSP00000318085:p.Arg249His					HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			6	809	+			249					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.746G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015527	0.93404	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.02085	4.46;4.46	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00038	-1.2244	10	0.87932	D	0	-29.5397	18.6818	0.91548	0.0:0.0:1.0:0.0	.	249	Q9BQA5	HINFP_HUMAN	H	249	ENSP00000318085:R249H;ENSP00000436815:R249H	ENSP00000318085:R249H	R	+	2	0	HINFP	118508485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.665000	0.90641	0.655000	0.94253	CGC		0.582	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		100	469	0	0	0	1	0	100	469					A	119003275	G	A	119003275	3	1	79	1	0	0	0	0	1	0	0	0	7140	1087	38	1	764	1	HINFP	11	119003275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18667	119003275	16003241	12745	23062											
HINFP	25988	broad.mit.edu	37	chr11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctccgcaaccacatgCgctttcgtcacagtgaggac	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000350777.2	+	7	886	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	275					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAACCACATGCGCTTTCGTCA	0.542																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(823-825)Cgc>Tgc		histone H4 transcription factor							127	119	122					11																	119003439		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003439C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.823C>T	11.37:g.119003439C>T	ENSP00000318085:p.Arg275Cys					HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			7	886	+			275					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.823C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217362	0.79352	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048851	0.85682	D	0.000000	T	0.80555	0.4645	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.83168	-0.0095	10	0.87932	D	0	-32.0835	19.8599	0.96779	0.0:1.0:0.0:0.0	.	275	Q9BQA5	HINFP_HUMAN	C	275	ENSP00000318085:R275C;ENSP00000436815:R275C	ENSP00000318085:R275C	R	+	1	0	HINFP	118508649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.682000	0.68182	2.710000	0.92621	0.655000	0.94253	CGC		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		19	597	0	0	0	1	0	19	597					T	119003439	C	T	119003439	3	4	79	1	0	0	0	0	1	0	0	0	7140	768	27	1	845	1	HINFP	11	119003439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	119003439	16003077	12746	23063											
HINFP	25988	broad.mit.edu	37	chr11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgacaaatgcttcacacGgggcaacaacctcaccgtgc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542																																						ENST00000350777.2																			1	Substitution - Missense(1)	p.R356Q(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1066-1068)cGg>cAg		histone H4 transcription factor							160	139	146					11																	119003857		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003857G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1067G>A	11.37:g.119003857G>A	ENSP00000318085:p.Arg356Gln					HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			9	1130	+			356					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1067G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	HINFP	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		132	573	0	0	0	1	0	132	573					A	119003857	G	A	119003857	3	1	79	1	0	0	0	0	1	0	0	0	7140	1116	39	1	1097	1	HINFP	11	119003857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	119003857	16002659	12747	23064											
HINFP	25988	broad.mit.edu	37	chr11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgggaacgtcgctgaacGagagcagcctgcagggcatt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000350777.2	+	10	1324	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	421	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1261-1263)Gag>Aag		histone H4 transcription factor							64	65	65					11																	119004915		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004915G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1261G>A	11.37:g.119004915G>A	ENSP00000318085:p.Glu421Lys		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_3'UTR	p.E421K	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			10	1324	+			421			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1261G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491058	0.64074	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	5.31	5.31	0.75309	.	0.085034	0.47455	D	0.000228	T	0.06142	0.0159	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	B	0.38194	0.267	T	0.34675	-0.9819	10	0.06494	T	0.89	-27.8494	17.3417	0.87298	0.0:0.0:1.0:0.0	.	421	Q9BQA5	HINFP_HUMAN	K	421	ENSP00000318085:E421K	ENSP00000318085:E421K	E	+	1	0	HINFP	118510125	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	5.614000	0.67695	2.779000	0.95612	0.655000	0.94253	GAG		0.587	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		57	221	0	0	0	1	0	57	221					A	119004915	G	A	119004915	3	1	79	1	0	0	0	0	1	0	0	0	7140	1059	37	1	1295	1	HINFP	11	119004915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1058	119004915	16001601	12748	23065											
ABCG4	64137	broad.mit.edu	37	chr11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattgtgtactggatgaCgggccagcccgctgagacca	13	12	0	2	rs201390504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				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.T494M(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)		TACTGGATGACGGGCCAGCCC	0.647																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.T494M(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1480-1482)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83	74	77		1481,1481	5.2	1	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119030980C>T	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.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met					ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1845	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	494			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1481C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		83	463	0	0	0	1	0	83	463					T	119030980	C	T	119030980	3	4	79	1	0	0	0	0	1	0	0	0	70	536	19	1	1527	1	ABCG4	11	119030980	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26065	119030980	15975536	12749	23066											
NLRX1	79671	broad.mit.edu	37	chr11	119045222	119045222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatccccagcaagtacgtgGgccgctatggtgagatctgc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045222G>A	ENST00000409109.1	+	6	1497	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CAAGTACGTGGGCCGCTATGG	0.572																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(910-912)Ggc>Agc		NLR family member X1							142	143	143					11																	119045222		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045222G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.910G>A	11.37:g.119045222G>A	ENSP00000387334:p.Gly304Ser					NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S	p.G304S			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1497	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	304			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.910G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507986	0.64410	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	N	0.04724	-0.175	0.45704	D	0.998615	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.625	T	0.73665	-0.3911	10	0.14656	T	0.56	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	304;304	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	304	ENSP00000386851:G304S;ENSP00000292199:G304S;ENSP00000386858:G304S;ENSP00000387334:G304S;ENSP00000433442:G304S	ENSP00000292199:G304S	G	+	1	0	NLRX1	118550432	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.171000	0.64996	2.884000	0.98904	0.655000	0.94253	GGC		0.572	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		19	931	0	0	0	1	0	19	931					A	119045222	G	A	119045222	3	1	79	1	0	0	0	0	1	0	0	0	10527	1232	43	2	928	2	NLRX1	11	119045222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14242	119045222	15961294	12750	23067											
NLRX1	79671	broad.mit.edu	37	chr11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaccaccagatagccGctgcctgcttcctgccgtcc	11	17	0	1	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	366	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CCAGATAGCCGCTGCCTGCTT	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1096-1098)Gct>Act		NLR family member X1		G	THR/ALA,THR/ALA	6,4394	11.4+/-27.6	0,6,2194	73	59	64		1096,1096	3.2	0	11	dbSNP_134	64	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	58,58	0,7,6488	AA,AG,GG		0.0116,0.1364,0.0539	benign,benign	366/976,366/922	119045408	7,12983	2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045408G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1096G>A	11.37:g.119045408G>A	ENSP00000387334:p.Ala366Thr					NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	p.A366T			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1683	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	366			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1096G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984415	0.18889	0.001364	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	6.07	3.22	0.36961	.	0.070594	0.64402	N	0.000017	T	0.48607	0.1509	N	0.16201	0.385	0.38241	D	0.941324	B;B	0.30793	0.295;0.108	B;B	0.23419	0.046;0.024	T	0.39522	-0.9610	10	0.20046	T	0.44	.	11.405	0.49892	0.1942:0.0:0.8058:0.0	.	366;366	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	366	ENSP00000386851:A366T;ENSP00000292199:A366T;ENSP00000386858:A366T;ENSP00000387334:A366T;ENSP00000433442:A366T	ENSP00000292199:A366T	A	+	1	0	NLRX1	118550618	0.997000	0.39634	0.007000	0.13788	0.320000	0.28249	3.053000	0.49901	0.459000	0.27016	0.655000	0.94253	GCT		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		12	400	0	0	0	1	0	12	400					A	119045408	G	A	119045408	3	1	79	1	0	0	0	0	1	0	0	0	10527	1087	38	1	1114	1	NLRX1	11	119045408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186	119045408	15961108	12751	23068											
MCAM	4162	broad.mit.edu	37	chr11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggcccatctcttctgGgagcttatctgacttaactt	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	618					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602																																						ENST00000264036.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1852-1854)Cca>Tca		melanoma cell adhesion molecule							102	100	101					11																	119181118		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181118G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1852C>T	11.37:g.119181118G>A	ENSP00000264036:p.Pro618Ser					MCAM_ENST00000392814.1_3'UTR	p.P618S	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	1866	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	618					O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1852C>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217456	0.22373	.	.	ENSG00000076706	ENST00000264036	T	0.54675	0.56	5.28	5.28	0.74379	.	.	.	.	.	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	B	0.27450	0.179	B	0.25884	0.064	T	0.17258	-1.0375	9	0.02654	T	1	-8.3175	14.1784	0.65557	0.0:0.1499:0.8501:0.0	.	618	P43121	MUC18_HUMAN	S	618	ENSP00000264036:P618S	ENSP00000264036:P618S	P	-	1	0	MCAM	118686328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	2.461000	0.83175	0.563000	0.77884	CCA		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			109	600	0	0	0	1	0	109	600					A	119181118	G	A	119181118	3	1	79	1	0	0	0	0	1	0	0	0	9409	1232	43	2	96	2	MCAM	11	119181118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135710	119181118	15825398	12752	23069											
MFRP	83552	broad.mit.edu	37	chr11	119212585	119212585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgtaaccgctgaggacCtctaccacctcctcctgggt	8	16	1	1	rs375425631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000530681.1	-	12	1641	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	MFRP_ENST00000449574.2_Silent_p.E499E|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.E499E|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	499	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGCTGAGGACCTCTACCACCT	0.632																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1495-1497)gaG>gaA		membrane frizzled-related protein		C	,	0,4398		0,0,2199	94	83	86		,1497	-3.6	0.1	11		86	4,8586	3.7+/-12.6	0,4,4291	no	utr-5,coding-synonymous	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	,	,499/580	119212585	4,12984	2199	4295	6494	SO:0001819	synonymous_variant	83552							g.chr11:119212585C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1497G>A	11.37:g.119212585C>T						MFRP_ENST00000360167.4_Intron|MFRP_ENST00000530681.1_Silent_p.E499E|MFRP_ENST00000449574.2_Silent_p.E499E|C1QTNF5_ENST00000445041.2_5'UTR	p.E499E	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	12	1656	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.1497G>A	CCDS8421.1																																																																																				0.632	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		62	238	0	0	0	1	0	62	238					T	119212585	C	T	119212585	2	4	79	1	0	0	0	0	0	0	0	1	9567	680	24	2		2	MFRP	11	119212585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	119212585	15793931	12753	23070											
MFRP	83552	broad.mit.edu	37	chr11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcccaagcagcaggaGgagcaggctggagagcagga	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000530681.1	-	3	376	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	78					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(232-234)Ctc>Ttc		membrane frizzled-related protein							27	25	25					11																	119216795		2189	4293	6482	SO:0001583	missense	83552							g.chr11:119216795G>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.232C>T	11.37:g.119216795G>A	ENSP00000456533:p.Leu78Phe					MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000530681.1_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR	p.L78F	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	3	391	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.232C>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261630	0.39995	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.72835	-0.69;-0.69;1.35	4.78	4.78	0.61160	.	0.086607	0.46442	D	0.000283	T	0.56093	0.1962	L	0.36672	1.1	0.38950	D	0.95833	B;B	0.28971	0.229;0.049	B;B	0.27608	0.081;0.026	T	0.53718	-0.8399	10	0.17369	T	0.5	-21.5893	9.4859	0.38928	0.098:0.0:0.902:0.0	.	78;78	B4DHN8;Q9BY79	.;MFRP_HUMAN	F	78	ENSP00000450509:L78F;ENSP00000391664:L78F;ENSP00000353291:L78F	ENSP00000353291:L78F	L	-	1	0	MFRP	118722005	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	-0.117000	0.10708	2.357000	0.79964	0.655000	0.94253	CTC		0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		12	89	0	0	0	1	0	12	89					A	119216795	G	A	119216795	3	1	79	1	0	0	0	0	1	0	0	0	9567	1000	35	2	1551	2	MFRP	11	119216795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4210	119216795	15789721	12754	23071											
USP2	9099	broad.mit.edu	37	chr11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaactcaccatgccgtctCttcccggggagctggagcgg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	255					cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(763-765)aGa>aTa		ubiquitin specific peptidase 2							30	35	33					11																	119243427		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243427C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.764G>T	11.37:g.119243427C>A	ENSP00000260187:p.Arg255Ile					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.R255I	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	1058	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	255					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.764G>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417086	0.42918	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.21734	1.99	5.37	4.46	0.54185	.	0.849233	0.10346	N	0.685653	T	0.28566	0.0707	M	0.73430	2.235	0.80722	D	1	B	0.26258	0.145	B	0.31686	0.134	T	0.06285	-1.0835	10	0.52906	T	0.07	-1.6389	7.9324	0.29909	0.0:0.7531:0.1604:0.0865	.	255	O75604	UBP2_HUMAN	I	255;225	ENSP00000260187:R255I	ENSP00000260187:R255I	R	-	2	0	USP2	118748637	0.995000	0.38212	1.000000	0.80357	0.923000	0.55619	1.263000	0.33004	1.259000	0.44117	-0.137000	0.14449	AGA		0.642	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		26	268	1	0	7.92952e-12	1	8.47903e-12	26	268					A	119243427	C	A	119243427	3	1	79	1	0	0	0	0	1	0	0	0	17105	913	32	3	1252	3	USP2	11	119243427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26632	119243427	15763089	12755	23072											
USP2	9099	broad.mit.edu	37	chr11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatctgtgtagcgggccGattctgtgtagcgcttcagg	16	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	14	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(40-42)tCg>tTg		ubiquitin specific peptidase 2							45	31	36					11																	119244150		2196	4292	6488	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244150G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.41C>T	11.37:g.119244150G>A	ENSP00000260187:p.Ser14Leu					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.S14L	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	335	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	14			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.41C>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817379	0.70912	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.24350	1.86	5.37	4.45	0.53987	.	0.165377	0.40064	N	0.001193	T	0.13457	0.0326	L	0.29908	0.895	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.05321	-1.0892	10	0.72032	D	0.01	-1.859	10.842	0.46722	0.0865:0.0:0.9135:0.0	.	14	O75604	UBP2_HUMAN	L	14	ENSP00000260187:S14L	ENSP00000260187:S14L	S	-	2	0	USP2	118749360	1.000000	0.71417	0.883000	0.34634	0.990000	0.78478	5.241000	0.65384	2.507000	0.84556	0.561000	0.74099	TCG		0.592	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		37	212	0	0	0	1	0	37	212					A	119244150	G	A	119244150	3	1	79	1	0	0	0	0	1	0	0	0	17105	1059	37	1	1975	1	USP2	11	119244150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	119244150	15762366	12756	23073											
PVRL1	5818	broad.mit.edu	37	chr11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccacggtgaagtaggGccgcttggcgtcctcgtcat	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	467					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGAAGTAGGGCCGCTTGGCG	0.662																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1399-1401)Ccc>Tcc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							51	44	46					11																	119535612		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535612G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1399C>T	11.37:g.119535612G>A	ENSP00000264025:p.Pro467Ser					PVRL1_ENST00000341398.2_Intron	p.P467S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1929	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	467					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1399C>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.621452	0.28889	.	.	ENSG00000110400	ENST00000264025	T	0.18657	2.2	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.51057	0.941	B	0.41036	0.346	T	0.09684	-1.0663	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:0.0:1.0:0.0	.	467	Q15223	PVRL1_HUMAN	S	467	ENSP00000264025:P467S	ENSP00000264025:P467S	P	-	1	0	PVRL1	119040822	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.350000	0.79385	2.108000	0.64289	0.479000	0.44913	CCC		0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			10	175	0	0	0	1	0	10	175					A	119535612	G	A	119535612	3	1	79	1	0	0	0	0	1	0	0	0	12889	1203	42	2	544	2	PVRL1	11	119535612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291462	119535612	15470904	12757	23074											
PVRL1	5818	broad.mit.edu	37	chr11	119535964	119535964	+	Silent	SNP	G	G	A													atggccgtgggcaccggcccGgcgcgccgcccatgttcggg					rs372634692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	349					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACCGGCCCGGCGCGCCGCC	0.677																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1045-1047)gcC>gcT		poliovirus receptor-related 1 (herpesvirus entry mediator C)		G	,	0,4394		0,0,2197	24	28	26		1047,	-8.6	0.5	11		26	1,8583		0,1,4291	no	coding-synonymous,intron	PVRL1	NM_002855.4,NM_203285.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	349/518,	119535964	1,12977	2197	4292	6489	SO:0001819	synonymous_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535964G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1047C>T	11.37:g.119535964G>A						PVRL1_ENST00000341398.2_Intron	p.A349A	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1577	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	349					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1047C>T	CCDS8426.1																																																																																				0.677	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			54	214	0	0	0	1	0	54	214					A	119535964	G	A	119535964	2	1	79	1	0	0	0	0	0	0	0	1	12889	1103	39	1		1	PVRL1	11	119535964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352	119535964	15470552	12758	23075	145	2									
PVRL1	5818	broad.mit.edu	37	chr11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A													gggcaccggcccggcgcgccGcccatgttcgggaggagacg					rs201959047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGGCGCGCCGCCCATGTTCG	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14227	0.0		0.0	False		,,,				2504	0.0					ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1039-1041)Cgg>Tgg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							21	25	24					11																	119535972		2199	4288	6487	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535972G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1039C>T	11.37:g.119535972G>A	ENSP00000264025:p.Arg347Trp					PVRL1_ENST00000341398.2_Intron	p.R347W	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1569	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	347					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1039C>T	CCDS8426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.99	2.700809	0.48307	.	.	ENSG00000110400	ENST00000264025	T	0.76186	-1.0	4.32	3.32	0.38043	.	0.288701	0.29822	N	0.011103	T	0.57330	0.2046	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60177	-0.7314	10	0.66056	D	0.02	.	2.4483	0.04511	0.1109:0.1906:0.5019:0.1966	.	347	Q15223	PVRL1_HUMAN	W	347	ENSP00000264025:R347W	ENSP00000264025:R347W	R	-	1	2	PVRL1	119041182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.455000	0.44988	2.108000	0.64289	0.479000	0.44913	CGG		0.672	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			46	199	0	0	0	1	0	46	199					A	119535972	G	A	119535972	3	1	79	1	0	0	0	0	1	0	0	0	12889	1086	38	1	904	1	PVRL1	11	119535972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	119535972	15470544	12759	23076	145	2									
TRIM29	23650	broad.mit.edu	37	chr11	120008617	120008617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgccgtgcccgttggtggtCttggcatccttgccgtcagc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120008617C>T	ENST00000341846.5	-	1	544	c.123G>A	c.(121-123)aaG>aaA	p.K41K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	41					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGTTGGTGGTCTTGGCATCCT	0.687																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(121-123)aaG>aaA		tripartite motif containing 29							54	54	54					11																	120008617		2203	4299	6502	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008617C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.123G>A	11.37:g.120008617C>T							p.K41K	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	544	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	41					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.123G>A	CCDS8428.1																																																																																				0.687	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		15	558	0	0	0	1	0	15	558					T	120008617	C	T	120008617	2	4	79	1	0	0	0	0	0	0	0	1	16556	912	32	2		2	TRIM29	11	120008617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472645	120008617	14997899	12760	23077											
OAF	220323	broad.mit.edu	37	chr11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatgccatctacacccGccaggaggatgtccggttct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(514-516)cGc>cAc		OAF homolog (Drosophila)							43	38	39					11																	120097673		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120097673G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.515G>A	11.37:g.120097673G>A	ENSP00000332613:p.Arg172His					OAF_ENST00000531220.1_Missense_Mutation_p.R56H	p.R172H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	1028	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	172						Missense_Mutation	SNP	ENST00000328965.4	37	c.515G>A	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC		0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		42	189	0	0	0	1	0	42	189					A	120097673	G	A	120097673	3	1	79	1	0	0	0	0	1	0	0	0	10840	1087	38	1	525	1	OAF	11	120097673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89056	120097673	14908843	12761	23078											
ARHGEF12	23365	broad.mit.edu	37	chr11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgtcagagtacccaaAtgttgaagagctcagggtga	13	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3016-3018)aAt>aCt		Rho guanine nucleotide exchange factor (GEF) 12							172	164	166					11																	120343820		1885	4117	6002	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120343820A>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3017A>C	11.37:g.120343820A>C	ENSP00000380942:p.Asn1006Thr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	p.N1006T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	31	3183	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1006					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3017A>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852865	0.17106	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.27559	0.0677	N	0.22421	0.69	0.32375	N	0.555307	B;B;B	0.20368	0.001;0.044;0.026	B;B;B	0.21546	0.004;0.035;0.016	T	0.31971	-0.9924	10	0.19590	T	0.45	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1006;987;903	ENSP00000380942:N1006T;ENSP00000349056:N987T;ENSP00000432984:N903T	ENSP00000349056:N987T	N	+	2	0	ARHGEF12	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT		0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		69	783	0	0	0	1	0	69	783					C	120343820	A	C	120343820	3	2	79	1	0	0	0	0	1	0	0	0	897	101	4	4	3139	4	ARHGEF12	11	120343820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246147	120343820	14662696	12762	23079											
ARHGEF12	23365	broad.mit.edu	37	chr11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtcagacaatggcgctcaGatttatgaactggtggcaca	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGGCGCTCAGATTTATGAAC	0.383			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3322-3324)caG>caT		Rho guanine nucleotide exchange factor (GEF) 12							123	117	119					11																	120347416		1863	4114	5977	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120347416G>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3324G>T	11.37:g.120347416G>T	ENSP00000380942:p.Gln1108His					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H	p.Q1108H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	34	3490	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1108			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3324G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279255	0.40294	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.46063	0.88;0.88;0.88	5.1	-1.08	0.09936	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38217	U	0.001761	T	0.29817	0.0745	L	0.55017	1.72	0.58432	D	0.999998	B;B;B	0.30973	0.302;0.094;0.057	B;B;B	0.28385	0.089;0.044;0.02	T	0.03641	-1.1017	10	0.52906	T	0.07	-12.5972	4.5858	0.12282	0.2541:0.1396:0.4849:0.1215	.	1005;1089;1108	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1108;1089;1005	ENSP00000380942:Q1108H;ENSP00000349056:Q1089H;ENSP00000432984:Q1005H	ENSP00000349056:Q1089H	Q	+	3	2	ARHGEF12	119852626	0.900000	0.30661	0.997000	0.53966	0.971000	0.66376	-0.026000	0.12392	-0.153000	0.11137	-0.471000	0.05019	CAG		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		63	286	1	0	9.12251e-31	1	1.07152e-30	63	286					T	120347416	G	T	120347416	3	4	79	1	0	0	0	0	1	0	0	0	897	933	33	3	3458	3	ARHGEF12	11	120347416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3596	120347416	14659100	12763	23080											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348237	120348237	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtttgcagagtccaggTacactcttctgaagagttca	10	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGAGTCCAGGTACACTCTTCT	0.423			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.e36+2		Rho guanine nucleotide exchange factor (GEF) 12							89	89	89					11																	120348237		1900	4125	6025	SO:0001630	splice_region_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348237T>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3532+2T>C	11.37:g.120348237T>C						ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site		NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	36	3698	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)						O15086|Q6P526	Splice_Site	SNP	ENST00000397843.2	37		CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175037	0.38413	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2739	0.60177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119853447	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	4.499000	0.60380	1.936000	0.56123	0.477000	0.44152	.		0.423	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	Intron	23	183	0	0	0	1	0	23	183					C	120348237	T	C	120348237	5	2	79	1	0	0	0	0	0	0	1	0	897	1652	57	4	3676	4	ARHGEF12	11	120348237	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	821	120348237	14658279	12764	23081											
ARHGEF12	23365	broad.mit.edu	37	chr11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcagccctcacagacaAgcactcaggtatgtaaaagt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1539					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCACAGACAAGCACTCAGGT	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4615-4617)aAg>aCg		Rho guanine nucleotide exchange factor (GEF) 12							80	74	76					11																	120355208		1879	4112	5991	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120355208A>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4616A>C	11.37:g.120355208A>C	ENSP00000380942:p.Lys1539Thr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T	p.K1539T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	40	4782	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1539					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4616A>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147910	0.57151	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	5.69	4.57	0.56435	.	0.142736	0.32328	N	0.006246	T	0.46795	0.1411	N	0.19112	0.55	0.27222	N	0.959639	P	0.35433	0.501	B	0.29785	0.107	T	0.35847	-0.9772	10	0.33940	T	0.23	-11.4479	10.0608	0.42273	0.9244:0.0:0.0756:0.0	.	1539	Q9NZN5	ARHGC_HUMAN	T	1539;1520;1436	ENSP00000380942:K1539T;ENSP00000349056:K1520T;ENSP00000432984:K1436T	ENSP00000349056:K1520T	K	+	2	0	ARHGEF12	119860418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.355000	0.59424	0.993000	0.38866	0.533000	0.62120	AAG		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		37	317	0	0	0	1	0	37	317					C	120355208	A	C	120355208	3	2	79	1	0	0	0	0	1	0	0	0	897	72	3	4	4774	4	ARHGEF12	11	120355208	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6971	120355208	14651308	12765	23082											
GRIK4	2900	broad.mit.edu	37	chr11	120769288	120769288	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagcatggacagccacctCtatgcctccaacatctcgga	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACAGCCACCTCTATGCCTCCA	0.602																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1210-1212)ctC>ctA		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						214	141	166					11																	120769288		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120769288C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1212C>A	11.37:g.120769288C>A						GRIK4_ENST00000438375.2_Silent_p.L404L	p.L404L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	12	1499	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	404					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1212C>A	CCDS8433.1																																																																																				0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		41	174	1	0	4.86159e-25	1	5.57236e-25	41	174					A	120769288	C	A	120769288	2	1	79	1	0	0	0	0	0	0	0	1	6806	900	32	3		3	GRIK4	11	120769288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414080	120769288	14237228	12766	23083											
TBCEL	219899	broad.mit.edu	37	chr11	120930756	120930756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattttttattcgTtactatgtggatgttccaca	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120930756T>C	ENST00000529397.1	+	7	1018	c.918T>C	c.(916-918)cgT>cgC	p.R306R	TBCEL_ENST00000422003.2_Silent_p.R306R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTTTTATTCGTTACTATGTGG	0.383																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(916-918)cgT>cgC		tubulin folding cofactor E-like							100	92	95					11																	120930756		2202	4299	6501	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120930756T>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.918T>C	11.37:g.120930756T>C						TBCEL_ENST00000529397.1_Silent_p.R306R	p.R306R	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	7	1106	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	306					Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.918T>C	CCDS31692.1																																																																																				0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		9	235	0	0	0	1	0	9	235					C	120930756	T	C	120930756	2	2	79	1	0	0	0	0	0	0	0	1	15687	1712	60	4		4	TBCEL	11	120930756	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161468	120930756	14075760	12767	23084											
TECTA	7007	broad.mit.edu	37	chr11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccccaggacaattccttCggcgaggggaggtgttttgg	14	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(802-804)Cgg>Tgg		tectorin alpha							67	63	64					11																	120989026		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989026C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.802C>T	11.37:g.120989026C>T	ENSP00000376543:p.Arg268Trp					TECTA_ENST00000264037.2_Missense_Mutation_p.R268W	p.R268W			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1073	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	268			VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.802C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG		0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		40	183	0	0	0	1	0	40	183					T	120989026	C	T	120989026	3	4	79	1	0	0	0	0	1	0	0	0	15799	875	31	1	824	1	TECTA	11	120989026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58270	120989026	14017490	12768	23085											
TECTA	7007	broad.mit.edu	37	chr11	120989208	120989208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggtgtttggggagccAcactaccacacttttgacgg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha	328	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGGAGCCACACTACCACA	0.557																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(982-984)ccA>ccG		tectorin alpha							145	127	133					11																	120989208		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989208A>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.984A>G	11.37:g.120989208A>G						TECTA_ENST00000264037.2_Silent_p.P328P	p.P328P			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1255	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	328			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.984A>G	CCDS8434.1																																																																																				0.557	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		77	439	0	0	0	1	0	77	439					G	120989208	A	G	120989208	2	3	79	1	0	0	0	0	0	0	0	1	15799	146	6	4		4	TECTA	11	120989208	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182	120989208	14017308	12769	23086											
TECTA	7007	broad.mit.edu	37	chr11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaccgtgtgcctgCtcagccagaaccaggtgctg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha	715	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTGCCTGCTCAGCCAGAA	0.652																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2143-2145)Ctc>Ttc		tectorin alpha							84	71	76					11																	120998829		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998829C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2143C>T	11.37:g.120998829C>T	ENSP00000376543:p.Leu715Phe					TECTA_ENST00000264037.2_Missense_Mutation_p.L715F	p.L715F			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2414	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	715			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2143C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031115	0.35797	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60920	0.15;0.15	5.67	2.47	0.30058	von Willebrand factor, type D domain (3);	0.410318	0.26016	N	0.026850	T	0.55657	0.1934	L	0.44542	1.39	0.28346	N	0.921119	P	0.36535	0.557	P	0.44732	0.459	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.1335	0.53957	0.1003:0.4443:0.4554:0.0	.	715	O75443	TECTA_HUMAN	F	715	ENSP00000376543:L715F;ENSP00000264037:L715F	ENSP00000264037:L715F	L	+	1	0	TECTA	120504039	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.883000	0.39658	0.717000	0.32145	-0.175000	0.13238	CTC		0.652	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		78	359	0	0	0	1	0	78	359					T	120998829	C	T	120998829	3	4	79	1	0	0	0	0	1	0	0	0	15799	797	28	2	2173	2	TECTA	11	120998829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9621	120998829	14007687	12770	23087											
TECTA	7007	broad.mit.edu	37	chr11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacttgatttttcagttgAatggtcaggaagtggaattg	12	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha	791	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTCAGTTGAATGGTCAGGA	0.448																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2371-2373)Aat>Gat		tectorin alpha							149	148	148					11																	121000350		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000350A>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2371A>G	11.37:g.121000350A>G	ENSP00000376543:p.Asn791Asp					TECTA_ENST00000264037.2_Missense_Mutation_p.N791D	p.N791D			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	2642	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	791			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2371A>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230020	0.79688	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64803	-0.12;-0.12	4.99	4.99	0.66335	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	L	0.60455	1.87	0.46376	D	0.999019	D	0.76494	0.999	D	0.83275	0.996	T	0.69687	-0.5078	10	0.17832	T	0.49	.	14.6911	0.69087	1.0:0.0:0.0:0.0	.	791	O75443	TECTA_HUMAN	D	791	ENSP00000376543:N791D;ENSP00000264037:N791D	ENSP00000264037:N791D	N	+	1	0	TECTA	120505560	1.000000	0.71417	0.772000	0.31596	0.810000	0.45777	8.522000	0.90573	1.886000	0.54624	0.460000	0.39030	AAT		0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		81	340	0	0	0	1	0	81	340					G	121000350	A	G	121000350	3	3	79	1	0	0	0	0	1	0	0	0	15799	246	9	4	2405	4	TECTA	11	121000350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1521	121000350	14006166	12771	23088											
TECTA	7007	broad.mit.edu	37	chr11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagacgaggagtgtgCgctgcgcaacggggtgcgcg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4411-4413)gCg>gTg		tectorin alpha							42	40	41					11																	121028656		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028656C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4412C>T	11.37:g.121028656C>T	ENSP00000376543:p.Ala1471Val					TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V	p.A1471V			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4683	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1471						Missense_Mutation	SNP	ENST00000392793.1	37	c.4412C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG		0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		64	335	0	0	0	1	0	64	335					T	121028656	C	T	121028656	3	4	79	1	0	0	0	0	1	0	0	0	15799	768	27	1	4462	1	TECTA	11	121028656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28306	121028656	13977860	12772	23089											
TECTA	7007	broad.mit.edu	37	chr11	121031011	121031011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagaacaaagtgtgCggtctctgtggcaacttcaa	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.		C -> S (in DFNA12; dbSNP:rs28939691). {ECO:0000269|PubMed:10196713}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4855-4857)tgC>tgT		tectorin alpha							135	129	131					11																	121031011		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031011C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4857C>T	11.37:g.121031011C>T						TECTA_ENST00000264037.2_Silent_p.C1619C	p.C1619C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5128	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1619		C -> S (in DFNA12; dbSNP:rs28939691).	VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4857C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		149	625	0	0	0	1	0	149	625					T	121031011	C	T	121031011	2	4	79	1	0	0	0	0	0	0	0	1	15799	776	27	1		1	TECTA	11	121031011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2355	121031011	13975505	12773	23090											
TECTA	7007	broad.mit.edu	37	chr11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggacggcaagagCtgcagaggtagacactcttc	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha	2120					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCAAGAGCTGCAGAGGTA	0.572																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(6358-6360)agC>agA		tectorin alpha							87	79	82					11																	121060582		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121060582C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6360C>A	11.37:g.121060582C>A	ENSP00000376543:p.Ser2120Arg					TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R	p.S2120R			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	23	6631	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2120						Missense_Mutation	SNP	ENST00000392793.1	37	c.6360C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902110	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95756	-3.8;-3.8	5.71	3.52	0.40303	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.60957	1.885	0.44337	D	0.997229	D	0.71674	0.998	D	0.78314	0.991	D	0.96201	0.9145	10	0.87932	D	0	.	10.5441	0.45050	0.0:0.7674:0.0:0.2326	.	2120	O75443	TECTA_HUMAN	R	2120	ENSP00000376543:S2120R;ENSP00000264037:S2120R	ENSP00000264037:S2120R	S	+	3	2	TECTA	120565792	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.062000	0.49971	1.423000	0.47198	0.561000	0.74099	AGC		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		52	235	1	0	6.08268e-21	1	6.83416e-21	52	235					A	121060582	C	A	121060582	3	1	79	1	0	0	0	0	1	0	0	0	15799	796	28	3	6446	3	TECTA	11	121060582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29571	121060582	13945934	12774	23091											
SORL1	6653	broad.mit.edu	37	chr11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagcccagtttgtcacaaGacatcctattaatgtgagtg	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	343					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1027-1029)aGa>aTa		sortilin-related receptor, L(DLR class) A repeats containing							111	105	107					11																	121383800		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121383800G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1028G>T	11.37:g.121383800G>T	ENSP00000260197:p.Arg343Ile					SORL1_ENST00000532451.1_3'UTR	p.R343I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	7	1157	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	343					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1028G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456427	0.63401	.	.	ENSG00000137642	ENST00000260197	T	0.27557	1.66	5.19	4.27	0.50696	VPS10 (1);	0.248756	0.37715	N	0.001971	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.36183	0.542	B	0.41412	0.356	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.0411	0.30521	0.2403:0.0:0.7597:0.0	.	343	Q92673	SORL_HUMAN	I	343	ENSP00000260197:R343I	ENSP00000260197:R343I	R	+	2	0	SORL1	120889010	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.191000	0.50981	1.174000	0.42811	0.655000	0.94253	AGA		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		76	333	1	0	8.87156e-34	1	1.0529e-33	76	333					T	121383800	G	T	121383800	3	4	79	1	0	0	0	0	1	0	0	0	14984	942	33	3	1054	3	SORL1	11	121383800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323218	121383800	13622716	12775	23092											
SORL1	6653	broad.mit.edu	37	chr11	121440888	121440888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacctgtcttcgcaaccaGtatcgctgcagcaacgggaa	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1082	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3244-3246)caG>caA		sortilin-related receptor, L(DLR class) A repeats containing							247	197	214					11																	121440888		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121440888G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3246G>A	11.37:g.121440888G>A						SORL1_ENST00000525532.1_Silent_p.Q26Q	p.Q1082Q	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	23	3375	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1082			LDL-receptor class A 1.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3246G>A	CCDS8436.1																																																																																				0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		75	358	0	0	0	1	0	75	358					A	121440888	G	A	121440888	2	1	79	1	0	0	0	0	0	0	0	1	14984	1020	36	2		2	SORL1	11	121440888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57088	121440888	13565628	12776	23093											
SORL1	6653	broad.mit.edu	37	chr11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttccctctgtagcccaaGatcctgagttccacaaggta	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000260197.7	+	29	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1318					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3952-3954)Gat>Tat		sortilin-related receptor, L(DLR class) A repeats containing							457	381	407					11																	121459973		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121459973G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3952G>T	11.37:g.121459973G>T	ENSP00000260197:p.Asp1318Tyr					SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y	p.D1318Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	29	4081	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1318					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3952G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038523	0.35989	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.91631	-2.88;-2.63;-2.27;-2.29	5.62	5.62	0.85841	.	0.395539	0.28448	N	0.015315	D	0.91147	0.7212	N	0.20574	0.59	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	D	0.92346	0.5885	10	0.66056	D	0.02	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1318	Q92673	SORL_HUMAN	Y	1318;262;164;228	ENSP00000260197:D1318Y;ENSP00000434634:D262Y;ENSP00000432131:D164Y;ENSP00000436447:D228Y	ENSP00000260197:D1318Y	D	+	1	0	SORL1	120965183	1.000000	0.71417	0.984000	0.44739	0.637000	0.38172	4.922000	0.63404	2.634000	0.89283	0.655000	0.94253	GAT		0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		92	1069	1	0	9.25274e-37	1	1.1089e-36	92	1069					T	121459973	G	T	121459973	3	4	79	1	0	0	0	0	1	0	0	0	14984	942	33	3	4066	3	SORL1	11	121459973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19085	121459973	13546543	12777	23094											
UBASH3B	84959	broad.mit.edu	37	chr11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgctccccgtcccttcGctgcgttcagactgcacaca	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCGTCCCTTCGCTGCGTTCAG	0.423																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1417-1419)cGc>cAc		ubiquitin associated and SH3 domain containing B							135	121	125					11																	122669710		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122669710G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1418G>A	11.37:g.122669710G>A	ENSP00000284273:p.Arg473His						p.R473H	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	10	1793	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	473			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1418G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627954	0.96671	.	.	ENSG00000154127	ENST00000284273	T	0.77098	-1.07	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:0.0:1.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	H	473	ENSP00000284273:R473H	ENSP00000284273:R473H	R	+	2	0	UBASH3B	122174920	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGC		0.423	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	283	0	0	0	1	0	12	283					A	122669710	G	A	122669710	3	1	79	1	0	0	0	0	1	0	0	0	16894	1087	38	1	1456	1	UBASH3B	11	122669710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209737	122669710	12336806	12778	23095											
UBASH3B	84959	broad.mit.edu	37	chr11	122671895	122671895	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtattttacccctaaGgtttacaacaagaaaatcac	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B						negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTACCCCTAAGGTTTACAACA	0.418																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.e11-1		ubiquitin associated and SH3 domain containing B							93	93	93					11																	122671895		2202	4299	6501	SO:0001630	splice_region_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122671895G>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1451-1G>T	11.37:g.122671895G>T								NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	11	1825	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)						Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Splice_Site	SNP	ENST00000284273.5	37		CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120793	0.77436	.	.	ENSG00000154127	ENST00000284273	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7391	0.62836	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBASH3B	122177105	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.447000	0.97595	1.289000	0.44618	0.655000	0.94253	.		0.418	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	Intron	16	520	1	0	2.23348e-06	1	2.30073e-06	16	520					T	122671895	G	T	122671895	5	4	79	1	0	0	0	0	0	0	1	0	16894	1014	35	3	1492	3	UBASH3B	11	122671895	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2185	122671895	12334621	12779	23096											
UBASH3B	84959	broad.mit.edu	37	chr11	122677157	122677157	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattagttgtttcagaatcCtatgatacttatatcagtag	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	545	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1633-1635)tcC>tcA		ubiquitin associated and SH3 domain containing B							81	82	82					11																	122677157		2200	4294	6494	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122677157C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1635C>A	11.37:g.122677157C>A							p.S545S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	12	2010	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	545			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1635C>A	CCDS31694.1																																																																																				0.299	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	150	1	0	6.40141e-05	1	6.5221e-05	12	150					A	122677157	C	A	122677157	2	1	79	1	0	0	0	0	0	0	0	1	16894	668	24	3		3	UBASH3B	11	122677157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5262	122677157	12329359	12780	23097											
C11orf63	79864	broad.mit.edu	37	chr11	122774741	122774741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgttgccggagtccacGgacagctctttagaaaatct	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000531316.1	+	2	545	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000227349.2_Silent_p.T151T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	151					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGGAGTCCACGGACAGCTCTT	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(451-453)acG>acA		chromosome 11 open reading frame 63							84	94	91					11																	122774741		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774741G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.453G>A	11.37:g.122774741G>A						C11orf63_ENST00000531316.1_Silent_p.T151T|C11orf63_ENST00000307257.6_Silent_p.T151T	p.T151T	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	750	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	151					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.453G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		151	623	0	0	0	1	0	151	623					A	122774741	G	A	122774741	2	1	79	1	0	0	0	0	0	0	0	1	1659	1103	39	1		1	C11orf63	11	122774741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97584	122774741	12231775	12781	23098											
BSX	390259	broad.mit.edu	37	chr11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A													gctttctggcccgtctggtgCtttgggttcgtcttggcttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	178					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGTCTGGTGCTTTGGGTTCG	0.602																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(532-534)Gca>Tca		brain-specific homeobox							58	60	59					11																	122848527		1889	4117	6006	SO:0001583	missense	390259							g.chr11:122848527C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.532G>T	11.37:g.122848527C>A	ENSP00000344285:p.Ala178Ser						p.A178S	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	580	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	178						Missense_Mutation	SNP	ENST00000343035.2	37	c.532G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385453	0.25031	.	.	ENSG00000188909	ENST00000343035	D	0.92805	-3.11	5.4	5.4	0.78164	Homeodomain-like (1);	0.297348	0.35739	N	0.003004	T	0.81588	0.4854	N	0.14661	0.345	0.26143	N	0.980247	B	0.09022	0.002	B	0.09377	0.004	T	0.63585	-0.6604	10	0.07482	T	0.82	.	9.9018	0.41353	0.0:0.8441:0.0:0.1559	.	178	Q3C1V8	BSH_HUMAN	S	178	ENSP00000344285:A178S	ENSP00000344285:A178S	A	-	1	0	BSX	122353737	0.693000	0.27728	0.989000	0.46669	0.367000	0.29736	1.139000	0.31504	2.516000	0.84829	0.561000	0.74099	GCA		0.602	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		62	211	1	0	2.69953e-25	1	3.09604e-25	62	211					A	122848527	C	A	122848527	3	1	79	1	0	0	0	0	1	0	0	0	1539	797	28	3	172	3	BSX	11	122848527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73786	122848527	12157989	12782	23099	146	2									
BSX	390259	broad.mit.edu	37	chr11	122848534	122848534	+	Silent	SNP	T	T	C													ggcccgtctggtgctttgggTtcgtcttggcttttccgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GTGCTTTGGGTTCGTCTTGGC	0.592																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(523-525)gaA>gaG		brain-specific homeobox							62	64	63					11																	122848534		1894	4126	6020	SO:0001819	synonymous_variant	390259							g.chr11:122848534T>C		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.525A>G	11.37:g.122848534T>C							p.E175E	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	573	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	175						Silent	SNP	ENST00000343035.2	37	c.525A>G	CCDS41728.1																																																																																				0.592	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		65	223	0	0	0	1	0	65	223					C	122848534	T	C	122848534	2	2	79	1	0	0	0	0	0	0	0	1	1539	1722	60	4		4	BSX	11	122848534	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	122848534	12157982	12783	23100	146	2									
HSPA8	3312	broad.mit.edu	37	chr11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggaacaggtcagcattcaGttcttcaaatcgggcacggg	12	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000532636.1	-	5	1032	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	305	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGCATTCAGTTCTTCAAAT	0.498																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(913-915)Ctg>Atg		heat shock 70kDa protein 8							48	50	49					11																	122930388		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930388G>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.913C>A	11.37:g.122930388G>T	ENSP00000437125:p.Leu305Met					HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000532636.1_Missense_Mutation_p.L305M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M	p.L305M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1189	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	305			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.913C>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926013	0.52759	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01838	4.61;4.61;4.61;4.61;4.61;4.61;4.61;4.61	4.65	0.489	0.16854	.	0.166857	0.38778	N	0.001580	T	0.08626	0.0214	M	0.69523	2.12	0.80722	D	1	P;D;D;P	0.69078	0.877;0.997;0.997;0.877	P;D;D;P	0.75020	0.553;0.985;0.974;0.553	T	0.01349	-1.1378	10	0.56958	D	0.05	-13.7035	9.267	0.37647	0.3321:0.0:0.6679:0.0	.	305;305;305;305	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	M	305;159;305;305;305;69;286;245	ENSP00000437125:L305M;ENSP00000437189:L159M;ENSP00000432083:L305M;ENSP00000404372:L305M;ENSP00000227378:L305M;ENSP00000433316:L69M;ENSP00000433584:L286M;ENSP00000432884:L245M	ENSP00000227378:L305M	L	-	1	2	HSPA8	122435598	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.041000	0.41213	-0.027000	0.13873	-0.369000	0.07265	CTG		0.498	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			45	224	1	0	4.67007e-22	1	5.27622e-22	45	224					T	122930388	G	T	122930388	3	4	79	1	0	0	0	0	1	0	0	0	7446	1020	36	3	1047	3	HSPA8	11	122930388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81854	122930388	12076128	12784	23101											
ASAM	79827	broad.mit.edu	37	chr11	122944425	122944425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagcgtgagctccgagaGcctgaggaagaggagctggg	18	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122944425G>A	ENST00000448775.2	-	7	1219	c.879C>T	c.(877-879)ggC>ggT	p.G293G	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	293	Ser-rich.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGCTCCGAGAGCCTGAGGAAG	0.542																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(877-879)ggC>ggT		CXADR-like membrane protein							103	102	102					11																	122944425		2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122944425G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.879C>T	11.37:g.122944425G>A						CLMP_ENST00000530371.1_5'UTR	p.G293G	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			7	1219	-			293			Ser-rich.			Silent	SNP	ENST00000448775.2	37	c.879C>T	CCDS8441.1																																																																																				0.542	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		118	556	0	0	0	1	0	118	556					A	122944425	G	A	122944425	2	1	79	1	0	0	0	0	0	0	0	1	1010	958	34	2		2	ASAM	11	122944425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14037	122944425	12062091	12785	23102											
GRAMD1B	57476	broad.mit.edu	37	chr11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgctacacgctcacccGtgtggctcggaacaagagcc	10	15	1	1	rs573181030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	488						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCTCACCCGTGTGGCTCGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17858	0.0		0.001	False		,,,				2504	0.0					ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1462-1464)cGt>cAt		GRAM domain containing 1B							112	112	112					11																	123481019		2024	4176	6200	SO:0001583	missense	57476					integral to membrane		g.chr11:123481019G>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1463G>A	11.37:g.123481019G>A	ENSP00000436500:p.Arg488His					GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	p.R488H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	13	1790	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.1463G>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981378	0.93044	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.925;0.998;0.869;0.943	T	0.38757	-0.9646	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	448;179;488;495	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	495;495;488;488;448;179	ENSP00000402457:R495H;ENSP00000325628:R488H;ENSP00000436500:R488H;ENSP00000432987:R448H;ENSP00000388458:R179H	ENSP00000325628:R488H	R	+	2	0	GRAMD1B	122986229	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.388000	0.97237	2.554000	0.86153	0.561000	0.74099	CGT		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		73	367	0	0	0	1	0	73	367					A	123481019	G	A	123481019	3	1	79	1	0	0	0	0	1	0	0	0	6778	1145	40	1	1513	1	GRAMD1B	11	123481019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536594	123481019	11525497	12786	23103											
ZNF202	7753	broad.mit.edu	37	chr11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaactctttctgtgttgGgtccagatcactccactggt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000529691.1	-	5	985	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202	256	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTCTGTGTTGGGTCCAGATCA	0.428																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(766-768)Cca>Tca		zinc finger protein 202							123	112	116					11																	123598907		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123598907G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.766C>T	11.37:g.123598907G>A	ENSP00000433881:p.Pro256Ser					ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S|ZNF202_ENST00000529691.1_Missense_Mutation_p.P256S	p.P256S			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	6	1128	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	256			KRAB.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.766C>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828829	0.71258	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.02280	4.36;4.36;4.36	5.11	5.11	0.69529	Krueppel-associated box (4);	0.000000	0.47852	D	0.000214	T	0.08133	0.0203	L	0.52364	1.645	0.37552	D	0.91871	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.44086	T	0.13	-13.3373	11.8553	0.52433	0.0:0.1767:0.8232:0.0	.	256	O95125	ZN202_HUMAN	S	256	ENSP00000337724:P256S;ENSP00000432504:P256S;ENSP00000433881:P256S	ENSP00000337724:P256S	P	-	1	0	ZNF202	123104117	0.791000	0.28800	0.997000	0.53966	0.977000	0.68977	1.793000	0.38764	2.382000	0.81193	0.561000	0.74099	CCA		0.428	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		66	297	0	0	0	1	0	66	297					A	123598907	G	A	123598907	3	1	79	1	0	0	0	0	1	0	0	0	17816	1232	43	2	1192	2	ZNF202	11	123598907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117888	123598907	11407609	12787	23104											
ZNF202	7753	broad.mit.edu	37	chr11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctgcaaaccctccaccaGcgtcactgcctcctcgccac	5	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000529691.1	-	2	577	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202	120	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTCCACCAGCGTCACTGCC	0.582																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(358-360)Ctg>Atg		zinc finger protein 202							113	104	107					11																	123601239		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601239G>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.358C>A	11.37:g.123601239G>T	ENSP00000433881:p.Leu120Met					ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M|ZNF202_ENST00000529691.1_Missense_Mutation_p.L120M	p.L120M			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	720	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	120			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.358C>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279525	0.59758	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.57	3.66	0.41972	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37304	N	0.002147	T	0.19725	0.0474	L	0.48174	1.505	0.33660	D	0.609537	D	0.76494	0.999	D	0.91635	0.999	T	0.14587	-1.0467	10	0.59425	D	0.04	-12.847	10.1465	0.42767	0.0971:0.0:0.9029:0.0	.	120	O95125	ZN202_HUMAN	M	120	ENSP00000337724:L120M;ENSP00000432504:L120M;ENSP00000433881:L120M;ENSP00000431223:L120M	ENSP00000337724:L120M	L	-	1	2	ZNF202	123106449	0.945000	0.32115	0.997000	0.53966	0.913000	0.54294	1.429000	0.34903	1.146000	0.42352	0.455000	0.32223	CTG		0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		115	563	1	0	1.37143e-49	1	1.69657e-49	115	563					T	123601239	G	T	123601239	3	4	79	1	0	0	0	0	1	0	0	0	17816	962	34	3	1612	3	ZNF202	11	123601239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2332	123601239	11405277	12788	23105											
OR6X1	390260	broad.mit.edu	37	chr11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagacaactgtcaggtGcgaggcacaggtagagaaag	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTCAGGTGCGAGGCACAG	0.458																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(724-726)Cac>Tac		olfactory receptor, family 6, subfamily X, member 1							103	83	90					11																	123624503		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624503G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.724C>T	11.37:g.123624503G>A	ENSP00000333724:p.His242Tyr						p.H242Y	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	750	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	242					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.724C>T	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858060	0.71834	.	.	ENSG00000221931	ENST00000327930	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.97158	3.95	0.46954	D	0.999262	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	9	0.87932	D	0	-14.9416	14.1152	0.65149	0.0:0.0:1.0:0.0	.	242	Q8NH79	OR6X1_HUMAN	Y	242	ENSP00000333724:H242Y	ENSP00000333724:H242Y	H	-	1	0	OR6X1	123129713	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	8.908000	0.92640	2.191000	0.70037	0.650000	0.86243	CAC		0.458	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		70	350	0	0	0	1	0	70	350					A	123624503	G	A	123624503	3	1	79	1	0	0	0	0	1	0	0	0	11254	1319	46	2	216	2	OR6X1	11	123624503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23264	123624503	11382013	12789	23106											
OR6X1	390260	broad.mit.edu	37	chr11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagtggctgaaggaattCgtaggattgcggacagaatg	16	6	0	2	rs140203672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18115	0.0		0.001	False		,,,				2504	0.0					ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(673-675)cGa>cAa		olfactory receptor, family 6, subfamily X, member 1		C	GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	100	88	92		674	-3.5	0	11	dbSNP_134	92	9,8589	7.1+/-27.0	2,5,4292	yes	missense	OR6X1	NM_001005188.1	43	2,7,6492	TT,TC,CC		0.1047,0.0454,0.0846	benign	225/313	123624553	11,12991	2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624553C>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.674G>A	11.37:g.123624553C>T	ENSP00000333724:p.Arg225Gln						p.R225Q	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	700	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	225					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.674G>A	CCDS31695.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	7.787	0.710773	0.15239	4.54E-4	0.001047	ENSG00000221931	ENST00000327930	T	0.00231	8.49	4.37	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.72353	2.195	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.14531	-1.0469	9	0.52906	T	0.07	-0.7425	10.4512	0.44524	0.0:0.3946:0.0:0.6054	.	225	Q8NH79	OR6X1_HUMAN	Q	225	ENSP00000333724:R225Q	ENSP00000333724:R225Q	R	-	2	0	OR6X1	123129763	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-2.044000	0.01411	-0.914000	0.03827	-0.143000	0.13931	CGA		0.473	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		83	446	0	0	0	1	0	83	446					T	123624553	C	T	123624553	3	4	79	1	0	0	0	0	1	0	0	0	11254	884	31	1	266	1	OR6X1	11	123624553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	123624553	11381963	12790	23107											
OR6X1	390260	broad.mit.edu	37	chr11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataacattattgccacagaAtggcaactggatgagcagca	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCCACAGAATGGCAACTGG	0.512																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(496-498)Ttc>Gtc		olfactory receptor, family 6, subfamily X, member 1							95	96	96					11																	123624731		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624731A>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.496T>G	11.37:g.123624731A>C	ENSP00000333724:p.Phe166Val						p.F166V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	522	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	166					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.496T>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772160	0.69992	.	.	ENSG00000221931	ENST00000327930	T	0.00145	8.67	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.90369	3.11	0.40301	D	0.978608	D	0.53312	0.959	P	0.55508	0.777	T	0.70554	-0.4840	9	0.87932	D	0	-16.1591	12.1541	0.54066	1.0:0.0:0.0:0.0	.	166	Q8NH79	OR6X1_HUMAN	V	166	ENSP00000333724:F166V	ENSP00000333724:F166V	F	-	1	0	OR6X1	123129941	1.000000	0.71417	0.872000	0.34217	0.713000	0.41058	4.554000	0.60760	1.982000	0.57802	0.528000	0.53228	TTC		0.512	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		84	389	0	0	0	1	0	84	389					C	123624731	A	C	123624731	3	2	79	1	0	0	0	0	1	0	0	0	11254	101	4	4	444	4	OR6X1	11	123624731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	178	123624731	11381785	12791	23108											
OR6X1	390260	broad.mit.edu	37	chr11	123624777	123624777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaaagacaatggtgaaGcccaccacccaggagctcag	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATGGTGAAGCCCACCACCC	0.517																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(448-450)ggC>ggT		olfactory receptor, family 6, subfamily X, member 1							101	103	103					11																	123624777		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624777G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.450C>T	11.37:g.123624777G>A							p.G150G	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	476	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	150					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.450C>T	CCDS31695.1																																																																																				0.517	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		65	347	0	0	0	1	0	65	347					A	123624777	G	A	123624777	2	1	79	1	0	0	0	0	0	0	0	1	11254	958	34	2		2	OR6X1	11	123624777	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	123624777	11381739	12792	23109											
OR6M1	390261	broad.mit.edu	37	chr11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaggggcaatgtcacagaaGaaatgattaatttctttcct	9	6	2	4	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		22215	0.001		0.0	False		,,,				2504	0.0					ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(520-522)ttC>ttA		olfactory receptor, family 6, subfamily M, member 1							66	65	65					11																	123676536		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676536G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.522C>A	11.37:g.123676536G>T	ENSP00000311038:p.Phe174Leu						p.F174L	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	559	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	174					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.522C>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	OR6M1	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC		0.463	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		64	253	1	0	1.98135e-44	1	2.42465e-44	64	253					T	123676536	G	T	123676536	3	4	79	1	0	0	0	0	1	0	0	0	11247	933	33	3	422	3	OR6M1	11	123676536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51759	123676536	11329980	12793	23110											
OR6M1	390261	broad.mit.edu	37	chr11	123676620	123676620	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaaggctcccacccaGcatcccagaaccagcagaag	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676620G>T	ENST00000309154.2	-	1	475	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCCACCCAGCATCCCAGAA	0.507																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(436-438)tgC>tgA		olfactory receptor, family 6, subfamily M, member 1							46	48	47					11																	123676620		2201	4299	6500	SO:0001587	stop_gained	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676620G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.438C>A	11.37:g.123676620G>T	ENSP00000311038:p.Cys146*						p.C146*	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	475	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	146					B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	ENST00000309154.2	37	c.438C>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810325	0.50421	.	.	ENSG00000196099	ENST00000309154	.	.	.	3.68	0.438	0.16560	.	0.000000	0.36167	U	0.002747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.4638	0.16632	0.5274:0.0:0.4726:0.0	.	.	.	.	X	146	.	ENSP00000311038:C146X	C	-	3	2	OR6M1	123181830	0.000000	0.05858	0.740000	0.30986	0.589000	0.36550	-0.806000	0.04525	0.242000	0.21303	0.655000	0.94253	TGC		0.507	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		6	264	1	0	1	1	1	6	264					T	123676620	G	T	123676620	4	4	79	1	0	0	0	0	0	1	0	0	11247	963	34	3	506	3	OR6M1	11	123676620	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	123676620	11329896	12794	23111											
TMEM225	338661	broad.mit.edu	37	chr11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgaaatatcttcgataGaattctcagattccttacat	5	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	187					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(559-561)tCt>tTt		transmembrane protein 225							130	121	124					11																	123753963		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753963G>A	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.560C>T	11.37:g.123753963G>A	ENSP00000364166:p.Ser187Phe						p.S187F	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	776	-			187						Missense_Mutation	SNP	ENST00000375026.2	37	c.560C>T	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963711	0.18583	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.37752	1.22;1.18	3.76	1.77	0.24775	.	0.346611	0.21360	N	0.075801	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.49561	0.615	T	0.10660	-1.0620	10	0.87932	D	0	-9.4676	8.4555	0.32897	0.0:0.0:0.5761:0.4239	.	187	Q6GV28	TM225_HUMAN	F	187;137	ENSP00000364166:S187F;ENSP00000431282:S137F	ENSP00000364166:S187F	S	-	2	0	TMEM225	123259173	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.700000	0.25601	0.504000	0.28082	-0.268000	0.10319	TCT		0.433	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		66	311	0	0	0	1	0	66	311					A	123753963	G	A	123753963	3	1	79	1	0	0	0	0	1	0	0	0	16199	942	33	2	121	2	TMEM225	11	123753963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77343	123753963	11252553	12795	23112											
TMEM225	338661	broad.mit.edu	37	chr11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacatttaagtaagcagTatacatgatccaggtgatcc	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	143					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(427-429)Act>Cct		transmembrane protein 225							127	119	122					11																	123754818		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754818T>G	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.427A>C	11.37:g.123754818T>G	ENSP00000364166:p.Thr143Pro						p.T143P	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	643	-			143						Missense_Mutation	SNP	ENST00000375026.2	37	c.427A>C	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375561	0.42105	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69175	-0.38;-0.38	4.74	-0.839	0.10759	.	0.487163	0.17515	N	0.171460	T	0.62720	0.2451	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.52215	-0.8605	10	0.62326	D	0.03	-1.9637	2.6171	0.04907	0.3711:0.2056:0.0:0.4233	.	143	Q6GV28	TM225_HUMAN	P	143;93	ENSP00000364166:T143P;ENSP00000431282:T93P	ENSP00000364166:T143P	T	-	1	0	TMEM225	123260028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.004000	0.14682	-0.263000	0.10527	ACT		0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		87	347	0	0	0	1	0	87	347					G	123754818	T	G	123754818	3	3	79	1	0	0	0	0	1	0	0	0	16199	1638	57	4	258	4	TMEM225	11	123754818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855	123754818	11251698	12796	23113											
TMEM225	338661	broad.mit.edu	37	chr11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtgcatggattgaccTtgcttcagcttattgtgata	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	126					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(376-378)caA>caC		transmembrane protein 225							126	123	124					11																	123754867		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754867T>G	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.378A>C	11.37:g.123754867T>G	ENSP00000364166:p.Gln126His						p.Q126H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	594	-			126						Missense_Mutation	SNP	ENST00000375026.2	37	c.378A>C	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238253	0.10023	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	0.998	0.19857	.	0.666048	0.13298	N	0.398474	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.30880	-0.9963	10	0.49607	T	0.09	-0.9408	3.1305	0.06421	0.1383:0.0847:0.1405:0.6364	.	126	Q6GV28	TM225_HUMAN	H	126;76	ENSP00000364166:Q126H;ENSP00000431282:Q76H	ENSP00000364166:Q126H	Q	-	3	2	TMEM225	123260077	0.454000	0.25728	0.099000	0.21106	0.001000	0.01503	0.556000	0.23438	0.032000	0.15435	-1.532000	0.00920	CAA		0.373	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		98	441	0	0	0	1	0	98	441					G	123754867	T	G	123754867	3	3	79	1	0	0	0	0	1	0	0	0	16199	1606	56	4	307	4	TMEM225	11	123754867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	123754867	11251649	12797	23114											
OR8D4	338662	broad.mit.edu	37	chr11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actcaggttgtctttctgtgGatcaaacatcattaaacatt	6	8	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(508-510)gGa>gTa		olfactory receptor, family 8, subfamily D, member 4							218	214	216					11																	123777647		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777647G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>T	11.37:g.123777647G>T	ENSP00000325381:p.Gly170Val						p.G170V	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	539	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	170					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.509G>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629197	0.28978	.	.	ENSG00000181518	ENST00000321355	T	0.38401	1.14	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.58935	0.2157	M	0.88704	2.975	0.09310	N	1	P	0.50528	0.936	P	0.62885	0.908	T	0.50516	-0.8819	10	0.51188	T	0.08	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	V	170	ENSP00000325381:G170V	ENSP00000325381:G170V	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		100	1150	1	0	6.88731e-43	1	8.39682e-43	100	1150					T	123777647	G	T	123777647	3	4	79	1	0	0	0	0	1	0	0	0	11275	1174	41	3	511	3	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22780	123777647	11228869	12798	23115											
OR4D5	219875	broad.mit.edu	37	chr11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaaaggaccctattGgtcccctggagcacagaccc	12	12	0	1	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(928-930)Ggt>Tgt		olfactory receptor, family 4, subfamily D, member 5		G	CYS/GLY	0,4404		0,0,2202	63	64	64		928	0.9	0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811251G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.928G>T	11.37:g.123811251G>T	ENSP00000305970:p.Gly310Cys						p.G310C	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	1002	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	310					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.928G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT		0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		70	320	1	0	3.82274e-22	1	4.32047e-22	70	320					T	123811251	G	T	123811251	3	4	79	1	0	0	0	0	1	0	0	0	11099	1348	47	3	930	3	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33604	123811251	11195265	12799	23116											
OR6T1	219874	broad.mit.edu	37	chr11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccctgagaacagtggCaagaatgcaggcataggaaa	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537																																						ENST00000321252.2																			1	Substitution - Missense(1)	p.A223S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(667-669)Gcc>Acc		olfactory receptor, family 6, subfamily T, member 1							86	81	83					11																	123813879		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813879C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.667G>A	11.37:g.123813879C>T	ENSP00000325203:p.Ala223Thr						p.A223T	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	701	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	223					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.667G>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190997	0.09547	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	0.481	0.16809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23404	-1.0189	9	0.59425	D	0.04	-13.4277	1.7649	0.03000	0.3642:0.3464:0.1786:0.1108	.	223	Q8NGN1	OR6T1_HUMAN	T	223	ENSP00000325203:A223T	ENSP00000325203:A223T	A	-	1	0	OR6T1	123319089	0.000000	0.05858	0.039000	0.18376	0.603000	0.37013	-3.221000	0.00552	-0.097000	0.12307	0.563000	0.77884	GCC		0.537	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		43	298	0	0	0	1	0	43	298					T	123813879	C	T	123813879	3	4	79	1	0	0	0	0	1	0	0	0	11252	710	25	2	307	2	OR6T1	11	123813879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2628	123813879	11192637	12800	23117											
OR10S1	219873	broad.mit.edu	37	chr11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagatgtaggaaataaCgatgaggatgaggcagcctg	15	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V229I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGAAATAACGATGAGGATG	0.592																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.V229I(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(685-687)Gtt>Att		olfactory receptor, family 10, subfamily S, member 1							53	48	50					11																	123847714		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847714C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.685G>A	11.37:g.123847714C>T	ENSP00000431914:p.Val229Ile						p.V229I	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	774	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	229					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.685G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	OR10S1	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT		0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		75	298	0	0	0	1	0	75	298					T	123847714	C	T	123847714	3	4	79	1	0	0	0	0	1	0	0	0	10960	536	19	1	314	1	OR10S1	11	123847714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33835	123847714	11158802	12801	23118											
OR10S1	219873	broad.mit.edu	37	chr11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccacagtagagcaggCggaaggtgagggaggtgtgg	20	6	0	2	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(535-537)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1		C	HIS/ARG	0,4404		0,0,2202	102	88	92		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847863C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.536G>A	11.37:g.123847863C>T	ENSP00000431914:p.Arg179His						p.R179H	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	625	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.536G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		58	293	0	0	0	1	0	58	293					T	123847863	C	T	123847863	3	4	79	1	0	0	0	0	1	0	0	0	10960	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149	123847863	11158653	12802	23119											
OR10G9	219870	broad.mit.edu	37	chr11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcatcgtggtcctttGcttttttgttccctgtgttt	8	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTCCTTTGCTTTTTTGTT	0.532																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(745-747)tGc>tAc		olfactory receptor, family 10, subfamily G, member 9							166	147	154					11																	123894465		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894465G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.746G>A	11.37:g.123894465G>A	ENSP00000364164:p.Cys249Tyr						p.C249Y	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	746	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	249						Missense_Mutation	SNP	ENST00000375024.1	37	c.746G>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212605	0.39102	.	.	ENSG00000236981	ENST00000375024	T	0.00076	8.76	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00241	0.0007	N	0.22421	0.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.6678	0.39994	0.0:0.3635:0.6365:0.0	.	249	Q8NGN4	O10G9_HUMAN	Y	249	ENSP00000364164:C249Y	ENSP00000364164:C249Y	C	+	2	0	OR10G9	123399675	0.000000	0.05858	0.970000	0.41538	0.819000	0.46315	0.517000	0.22832	1.884000	0.54569	0.586000	0.80456	TGC		0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		122	492	0	0	0	1	0	122	492					A	123894465	G	A	123894465	3	1	79	1	0	0	0	0	1	0	0	0	10946	1319	46	2	748	2	OR10G9	11	123894465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46602	123894465	11112051	12803	23120											
OR10G8	219869	broad.mit.edu	37	chr11	123900354	123900354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgccagcctactgacaGcgttcatcctcatgggcctt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123900354G>T	ENST00000431524.1	+	1	58	c.25G>T	c.(25-27)Gcg>Tcg	p.A9S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTACTGACAGCGTTCATCCT	0.542																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(25-27)Gcg>Tcg		olfactory receptor, family 10, subfamily G, member 8							170	160	164					11																	123900354		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900354G>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.25G>T	11.37:g.123900354G>T	ENSP00000389072:p.Ala9Ser						p.A9S	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	58	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	9					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.25G>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037911	0.19669	.	.	ENSG00000234560	ENST00000431524	T	0.01076	5.37	2.95	-1.16	0.09678	.	1.245330	0.05634	N	0.582270	T	0.00784	0.0026	N	0.04090	-0.28	0.09310	N	1	B	0.16396	0.017	B	0.23150	0.044	T	0.48736	-0.9009	10	0.66056	D	0.02	.	4.0905	0.09967	0.3494:0.0:0.463:0.1876	.	9	Q8NGN5	O10G8_HUMAN	S	9	ENSP00000389072:A9S	ENSP00000389072:A9S	A	+	1	0	OR10G8	123405564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.267000	0.18552	-0.393000	0.07739	-0.237000	0.12165	GCG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		14	753	1	0	0.11911	1	0.119318	14	753					T	123900354	G	T	123900354	3	4	79	1	0	0	0	0	1	0	0	0	10945	971	34	3	27	3	OR10G8	11	123900354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5889	123900354	11106162	12804	23121											
OR10G7	390265	broad.mit.edu	37	chr11	123909487	123909487	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcagcattttgggcaccgtGacagtggagaaccacatgtc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123909487G>A	ENST00000330487.5	-	1	230	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGCACCGTGACAGTGGAGA	0.537																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(220-222)gtC>gtT		olfactory receptor, family 10, subfamily G, member 7							88	96	94					11																	123909487		2200	4297	6497	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909487G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.222C>T	11.37:g.123909487G>A							p.V74V	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	230	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	74					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.222C>T	CCDS31705.1																																																																																				0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		26	829	0	0	0	1	0	26	829					A	123909487	G	A	123909487	2	1	79	1	0	0	0	0	0	0	0	1	10944	1277	45	2		2	OR10G7	11	123909487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9133	123909487	11097029	12805	23122											
VWA5A	4013	broad.mit.edu	37	chr11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagccaggatacatctcaGctgcgaatacaggcagccaa	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000456829.2	+	8	1160	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	303	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATACATCTCAGCTGCGAATAC	0.473																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(907-909)caG>caT		von Willebrand factor A domain containing 5A							74	64	67					11																	123993815		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123993815G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.909G>T	11.37:g.123993815G>T	ENSP00000407726:p.Gln303His					VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			8	1160	+			303			VWFA.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.909G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802283	0.50315	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22336	2.54;1.96;2.54;2.17;2.17;2.16	5.96	0.729	0.18266	von Willebrand factor, type A (3);	0.387974	0.28940	N	0.013646	T	0.41073	0.1143	M	0.83312	2.635	0.09310	N	0.999999	P;D	0.89917	0.902;1.0	B;D	0.77557	0.411;0.99	T	0.17653	-1.0362	10	0.54805	T	0.06	-12.7857	5.2398	0.15465	0.4039:0.1379:0.4582:0.0	.	319;303	B4DHS6;O00534	.;VMA5A_HUMAN	H	303;303;303;303;303;319	ENSP00000407726:Q303H;ENSP00000353485:Q303H;ENSP00000376504:Q303H;ENSP00000355070:Q303H;ENSP00000404683:Q303H;ENSP00000376501:Q319H	ENSP00000353485:Q303H	Q	+	3	2	VWA5A	123499025	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.323000	0.19593	-0.104000	0.12154	-0.150000	0.13652	CAG		0.473	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		45	139	1	0	1.61863e-15	1	1.77026e-15	45	139					T	123993815	G	T	123993815	3	4	79	1	0	0	0	0	1	0	0	0	17296	962	34	3	931	3	VWA5A	11	123993815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84328	123993815	11012701	12806	23123											
OR8D2	283160	broad.mit.edu	37	chr11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacggtcatattccatggCtgtcagaaggtagccttctg	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(349-351)Gcc>Tcc		olfactory receptor, family 8, subfamily D, member 2							81	77	79					11																	124189745		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189745C>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.349G>T	11.37:g.124189745C>A	ENSP00000350022:p.Ala117Ser						p.A117S	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	439	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.349G>T	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232208	0.05983	.	.	ENSG00000197263	ENST00000357438	T	0.03065	4.06	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.03095	0.0091	L	0.51422	1.61	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.36016	-0.9765	10	0.06236	T	0.91	.	6.9376	0.24474	0.0:0.7022:0.0:0.2978	.	117	Q9GZM6	OR8D2_HUMAN	S	117	ENSP00000350022:A117S	ENSP00000350022:A117S	A	-	1	0	OR8D2	123694955	0.000000	0.05858	0.068000	0.19968	0.204000	0.24138	0.169000	0.16641	1.117000	0.41842	0.420000	0.28162	GCC		0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		53	198	1	0	6.34439e-16	1	6.95021e-16	53	198					A	124189745	C	A	124189745	3	1	79	1	0	0	0	0	1	0	0	0	11274	797	28	3	589	3	OR8D2	11	124189745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195930	124189745	10816771	12807	23124											
OR8D2	283160	broad.mit.edu	37	chr11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtggcagttgaagtTctgggcgttgtgtcaagcct	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(64-66)gAa>gGa		olfactory receptor, family 8, subfamily D, member 2							68	68	68					11																	124190029		2200	4299	6499	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124190029T>C	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.65A>G	11.37:g.124190029T>C	ENSP00000350022:p.Glu22Gly						p.E22G	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	155	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.65A>G	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902945	0.33628	.	.	ENSG00000197263	ENST00000357438	T	0.00444	7.4	3.42	2.3	0.28687	.	0.142247	0.31577	N	0.007408	T	0.00384	0.0012	L	0.46741	1.465	0.26868	N	0.967817	D	0.56035	0.974	P	0.47981	0.563	T	0.55431	-0.8142	10	0.40728	T	0.16	.	8.0264	0.30440	0.0:0.1052:0.0:0.8948	.	22	Q9GZM6	OR8D2_HUMAN	G	22	ENSP00000350022:E22G	ENSP00000350022:E22G	E	-	2	0	OR8D2	123695239	0.001000	0.12720	0.939000	0.37840	0.187000	0.23431	0.995000	0.29706	0.712000	0.32039	0.324000	0.21423	GAA		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		104	409	0	0	0	1	0	104	409					C	124190029	T	C	124190029	3	2	79	1	0	0	0	0	1	0	0	0	11274	1783	62	4	873	4	OR8D2	11	124190029	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	124190029	10816487	12808	23125											
OR8B8	26493	broad.mit.edu	37	chr11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaagaagagctgagTcatacaccctgcgtaggaga	12	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	99					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGCTGAGTCATACACCCT	0.438																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(295-297)Act>Cct		olfactory receptor, family 8, subfamily B, member 8							94	92	92					11																	124310687		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310687T>G	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.295A>C	11.37:g.124310687T>G	ENSP00000330280:p.Thr99Pro						p.T99P	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	367	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	99					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.295A>C	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106168	0.56291	.	.	ENSG00000197125	ENST00000328064	T	0.08896	3.04	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.138563	0.33346	N	0.005003	T	0.28665	0.0710	M	0.94142	3.5	0.31201	N	0.699808	D	0.56746	0.977	P	0.57620	0.824	T	0.43734	-0.9373	10	0.87932	D	0	.	6.2589	0.20889	0.0:0.1584:0.0:0.8416	.	99	Q15620	OR8B8_HUMAN	P	99	ENSP00000330280:T99P	ENSP00000330280:T99P	T	-	1	0	OR8B8	123815897	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.976000	0.01497	1.831000	0.53308	0.455000	0.32223	ACT		0.438	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		29	333	0	0	0	1	0	29	333					G	124310687	T	G	124310687	3	3	79	1	0	0	0	0	1	0	0	0	11272	1667	58	4	643	4	OR8B8	11	124310687	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120658	124310687	10695829	12809	23126											
OR8B12	219858	broad.mit.edu	37	chr11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacagatggccacgtagCggtcatacgccatcgctgac	12	12	1	2	rs369152224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(361-363)cGc>cAc		olfactory receptor, family 8, subfamily B, member 12		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	97	85	89		362	3	1	11		89	0,8598		0,0,4299	no	missense	OR8B12	NM_001005195.1	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	121/311	124413189	1,12999	2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413189C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.362G>A	11.37:g.124413189C>T	ENSP00000307159:p.Arg121His						p.R121H	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	386	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.362G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	OR8B12	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			41	248	0	0	0	1	0	41	248					T	124413189	C	T	124413189	3	4	79	1	0	0	0	0	1	0	0	0	11268	768	27	1	572	1	OR8B12	11	124413189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102502	124413189	10593327	12810	23127											
SIAE	54414	broad.mit.edu	37	chr11	124509617	124509617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatacctgccaaaaggCgagtctctatcacagagatc	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(1111-1113)tcG>tcA		sialic acid acetylesterase							173	144	154					11																	124509617		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124509617C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1113G>A	11.37:g.124509617C>T						SIAE_ENST00000545756.1_Silent_p.S336S	p.S371S			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	8	1285	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	371					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.1113G>A	CCDS8449.1																																																																																				0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		124	469	0	0	0	1	0	124	469					T	124509617	C	T	124509617	2	4	79	1	0	0	0	0	0	0	0	1	14348	755	27	1		1	SIAE	11	124509617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96428	124509617	10496899	12811	23128											
SPA17	53340	broad.mit.edu	37	chr11	124545184	124545184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgattccattctccaacacCcactaccgaattccacaagg	4	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SPA17_ENST00000227135.2_Silent_p.T8T|SIAE_ENST00000545756.1_5'Flank|SIAE_ENST00000263593.3_5'Flank|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	8					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418																																						ENST00000532692.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5						c.(22-24)acC>acT		sperm autoantigenic protein 17							111	107	108					11																	124545184		2201	4299	6500	SO:0001819	synonymous_variant	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124545184C>T	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"cancer/testis antigen 22"	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.24C>T	11.37:g.124545184C>T						SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Silent_p.T8T	p.T8T			Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	1	1445	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	8					B2R4F2|Q9BXF7	Silent	SNP	ENST00000532692.1	37	c.24C>T	CCDS8450.1																																																																																				0.418	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		71	449	0	0	0	1	0	71	449					T	124545184	C	T	124545184	2	4	79	1	0	0	0	0	0	0	0	1	15021	610	22	2		2	SPA17	11	124545184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35567	124545184	10461332	12812	23129											
VSIG2	23584	broad.mit.edu	37	chr11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacgcagcaactgacaGcaacagcacgcccaggagca	11	14	0	2	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000326621.5	-	6	866	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.L256M	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	256						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCAACTGACAGCAACAGCACG	0.582																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(766-768)Ctg>Atg		V-set and immunoglobulin domain containing 2							98	88	91					11																	124618371		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618371G>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.766C>A	11.37:g.124618371G>T	ENSP00000318684:p.Leu256Met					VSIG2_ENST00000326621.5_Missense_Mutation_p.L256M	p.L256M			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	821	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	256					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.766C>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579365	0.65878	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.77489	-1.1;-1.08	5.65	3.6	0.41247	.	0.270881	0.27366	N	0.019694	D	0.86049	0.5840	M	0.82823	2.61	0.32550	N	0.532482	D	0.76494	0.999	D	0.85130	0.997	D	0.87226	0.2257	10	0.72032	D	0.01	.	6.5355	0.22350	0.2235:0.0:0.7765:0.0	.	256	Q96IQ7	VSIG2_HUMAN	M	256	ENSP00000318684:L256M;ENSP00000385013:L256M	ENSP00000318684:L256M	L	-	1	2	VSIG2	124123581	0.997000	0.39634	0.953000	0.39169	0.928000	0.56348	1.559000	0.36320	1.560000	0.49568	0.655000	0.94253	CTG		0.582	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		70	313	1	0	8.83742e-36	1	1.05621e-35	70	313					T	124618371	G	T	124618371	3	4	79	1	0	0	0	0	1	0	0	0	17278	962	34	3	225	3	VSIG2	11	124618371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73187	124618371	10388145	12813	23130											
ROBO3	64221	broad.mit.edu	37	chr11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcgccgcgcgcggccgGacgaaggtgtctacacttgc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	137	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		CGCGCGGCCGGACGAAGGTGT	0.687																																						ENST00000397801.1																			0				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						c.(409-411)Gac>Aac		roundabout, axon guidance receptor, homolog 3 (Drosophila)							11	14	13					11																	124738946		1920	4110	6030	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124738946G>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.409G>A	11.37:g.124738946G>A	ENSP00000380903:p.Asp137Asn					ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	p.D137N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	2	601	+	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)	137			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000397801.1	37	c.409G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	36	5.791849	0.96945	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.80994	-1.44;-1.44	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000579	D	0.91791	0.7403	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	.	17.2808	0.87128	0.0:0.0:1.0:0.0	.	137	Q96MS0	ROBO3_HUMAN	N	137;115	ENSP00000380903:D137N;ENSP00000441797:D115N	ENSP00000380903:D137N	D	+	1	0	ROBO3	124244156	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.801000	0.99128	2.171000	0.68590	0.462000	0.41574	GAC		0.687	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		11	63	0	0	0	1	0	11	63					A	124738946	G	A	124738946	3	1	79	1	0	0	0	0	1	0	0	0	13565	1174	41	2	415	2	ROBO3	11	124738946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120575	124738946	10267570	12814	23131											
ROBO3	64221	broad.mit.edu	37	chr11	124740119	124740119	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcctggctgatgcccctgtGactttcctatgtgaggtgaa	12	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	275	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		ATGCCCCTGTGACTTTCCTAT	0.602																																						ENST00000397801.1																			0				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						c.(823-825)gtG>gtA		roundabout, axon guidance receptor, homolog 3 (Drosophila)							100	102	102					11																	124740119		2033	4181	6214	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740119G>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.825G>A	11.37:g.124740119G>A						ROBO3_ENST00000538940.1_Silent_p.V253V	p.V275V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1017	+	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)	275			Ig-like C2-type 3.			Silent	SNP	ENST00000397801.1	37	c.825G>A	CCDS44755.1																																																																																				0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		65	268	0	0	0	1	0	65	268					A	124740119	G	A	124740119	2	1	79	1	0	0	0	0	0	0	0	1	13565	1277	45	2		2	ROBO3	11	124740119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	124740119	10266397	12815	23132											
ROBO3	64221	broad.mit.edu	37	chr11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttcagccgacggggcGcttctcagtgtctccaagag	12	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		CCGACGGGGCGCTTCTCAGTG	0.612																																						ENST00000397801.1																			0				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						c.(1198-1200)cGc>cAc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							73	75	74					11																	124742317		2050	4198	6248	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742317G>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.1199G>A	11.37:g.124742317G>A	ENSP00000380903:p.Arg400His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	p.R400H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1391	+	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)	400			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1199G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	ROBO3	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC		0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		75	255	0	0	0	1	0	75	255					A	124742317	G	A	124742317	3	1	79	1	0	0	0	0	1	0	0	0	13565	1087	38	1	1229	1	ROBO3	11	124742317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	124742317	10264199	12816	23133											
ROBO3	64221	broad.mit.edu	37	chr11	124742334	124742334	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttctcagtgtctccaAgaggccaacttaacatcacc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		AGTGTCTCCAAGAGGCCAACT	0.612																																						ENST00000397801.1																			0				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						c.(1216-1218)Aga>Cga		roundabout, axon guidance receptor, homolog 3 (Drosophila)							74	75	75					11																	124742334		2065	4214	6279	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742334A>C	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.1216A>C	11.37:g.124742334A>C						ROBO3_ENST00000538940.1_Silent_p.R384R	p.R406R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1408	+	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)	406			Ig-like C2-type 4.			Silent	SNP	ENST00000397801.1	37	c.1216A>C	CCDS44755.1																																																																																				0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		76	257	0	0	0	1	0	76	257					C	124742334	A	C	124742334	2	2	79	1	0	0	0	0	0	0	0	1	13565	64	3	4		4	ROBO3	11	124742334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	124742334	10264182	12817	23134											
ROBO4	54538	broad.mit.edu	37	chr11	124765426	124765426	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagaggatggtctcactttGaactcgtagtcttggcccca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	321	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCTCACTTTGAACTCGTAGT	0.657																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(961-963)ttC>ttT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							47	54	52					11																	124765426		2200	4298	6498	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765426G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.963C>T	11.37:g.124765426G>A						ROBO4_ENST00000533054.1_Silent_p.F176F	p.F321F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1448	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	321			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.963C>T	CCDS8455.1																																																																																				0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		109	474	0	0	0	1	0	109	474					A	124765426	G	A	124765426	2	1	79	1	0	0	0	0	0	0	0	1	13566	1281	45	2		2	ROBO4	11	124765426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23092	124765426	10241090	12818	23135											
ROBO4	54538	broad.mit.edu	37	chr11	124765468	124765468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcctccaagctctgcGctctgccagccggccagcag	13	16	2	0	rs534292971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001					ENST00000306534.3																			1	Substitution - coding silent(1)	p.S307S(1)	large_intestine(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(919-921)agC>agT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							33	41	38					11																	124765468		2199	4291	6490	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765468G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.921C>T	11.37:g.124765468G>A						ROBO4_ENST00000533054.1_Silent_p.S162S	p.S307S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1406	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	307			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.921C>T	CCDS8455.1																																																																																				0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		26	496	0	0	0	1	0	26	496					A	124765468	G	A	124765468	2	1	79	1	0	0	0	0	0	0	0	1	13566	1078	38	1		1	ROBO4	11	124765468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	124765468	10241048	12819	23136											
ROBO4	54538	broad.mit.edu	37	chr11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccctctgcaggatccgGgttcagcagtgtcacatttt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGATCCGGGTTCAGCAGT	0.597																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(754-756)Ccg>Tcg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							75	76	76					11																	124765734		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765734G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.754C>T	11.37:g.124765734G>A	ENSP00000304945:p.Pro252Ser					ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	p.P252S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	5	1239	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	252			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.754C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789721	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65364	-0.15;0.24	4.96	2.95	0.34219	Fibronectin, type III (2);	0.000000	0.38663	N	0.001609	T	0.46737	0.1408	L	0.51422	1.61	0.09310	N	1	P;P	0.44734	0.763;0.842	B;B	0.36959	0.173;0.237	T	0.36986	-0.9725	10	0.30078	T	0.28	.	5.3735	0.16152	0.1024:0.0:0.685:0.2125	.	142;252	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	252;142;107	ENSP00000304945:P252S;ENSP00000437129:P107S	ENSP00000304945:P252S	P	-	1	0	ROBO4	124270944	0.999000	0.42202	0.949000	0.38748	0.042000	0.13812	1.314000	0.33597	1.324000	0.45282	0.561000	0.74099	CCG		0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		76	314	0	0	0	1	0	76	314					A	124765734	G	A	124765734	3	1	79	1	0	0	0	0	1	0	0	0	13566	1232	43	2	2325	2	ROBO4	11	124765734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	124765734	10240782	12820	23137											
HEPACAM	220296	broad.mit.edu	37	chr11	124793679	124793679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgatggggttctccaCcatgcagctgtacaggtcgt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124793679C>T	ENST00000298251.4	-	3	1060	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGTTCTCCACCATGCAGCTG	0.577																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(655-657)Gtg>Atg		hepatic and glial cell adhesion molecule							85	73	77					11																	124793679		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793679C>T	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.655G>A	11.37:g.124793679C>T	ENSP00000298251:p.Val219Met						p.V219M	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	1060	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	219			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.655G>A	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178303	0.94846	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.14266	2.52	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053931	0.64402	D	0.000001	T	0.47021	0.1423	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.54443	-0.8293	10	0.72032	D	0.01	-9.3497	19.5031	0.95104	0.0:1.0:0.0:0.0	.	219;219	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	M	219	ENSP00000298251:V219M	ENSP00000298251:V219M	V	-	1	0	HEPACAM	124298889	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.814000	0.86154	2.605000	0.88082	0.655000	0.94253	GTG		0.577	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		8	287	0	0	0	1	0	8	287					T	124793679	C	T	124793679	3	4	79	1	0	0	0	0	1	0	0	0	7082	507	18	2	615	2	HEPACAM	11	124793679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27945	124793679	10212837	12821	23138											
CCDC15	80071	broad.mit.edu	37	chr11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttagtgaaactatgaaAcaggcacgtcaccggctagc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000344762.5	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K178N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	178						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(532-534)aaA>aaC		coiled-coil domain containing 15							54	49	50					11																	124845009		1840	4097	5937	SO:0001583	missense	80071					centrosome		g.chr11:124845009A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.534A>C	11.37:g.124845009A>C	ENSP00000341684:p.Lys178Asn					CCDC15_ENST00000344762.5_Missense_Mutation_p.K178N	p.K178N			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	5	793	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	178					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.534A>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257472	0.59321	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.43294	0.96;0.95	5.49	-0.499	0.12015	.	0.146210	0.44097	D	0.000494	T	0.56337	0.1978	M	0.71581	2.175	0.23855	N	0.996653	D	0.76494	0.999	D	0.79784	0.993	T	0.48811	-0.9002	10	0.72032	D	0.01	-11.9158	8.8787	0.35360	0.5446:0.0:0.4554:0.0	.	178	Q0P6D6	CCD15_HUMAN	N	178	ENSP00000435403:K178N;ENSP00000341684:K178N	ENSP00000341684:K178N	K	+	3	2	CCDC15	124350219	0.993000	0.37304	0.993000	0.49108	0.690000	0.40134	0.110000	0.15437	-0.008000	0.14320	0.528000	0.53228	AAA		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		14	75	0	0	0	1	0	14	75					C	124845009	A	C	124845009	3	2	79	1	0	0	0	0	1	0	0	0	2791	40	2	4	548	4	CCDC15	11	124845009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51330	124845009	10161507	12822	23139											
CCDC15	80071	broad.mit.edu	37	chr11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaccaggacttcctacccaGagaccagcatgttctccaca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000344762.5	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000529051.1_Missense_Mutation_p.R452K	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	452						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1354-1356)aGa>aAa		coiled-coil domain containing 15							104	100	101					11																	124857477		1853	4094	5947	SO:0001583	missense	80071					centrosome		g.chr11:124857477G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1355G>A	11.37:g.124857477G>A	ENSP00000341684:p.Arg452Lys					CCDC15_ENST00000344762.5_Missense_Mutation_p.R452K	p.R452K			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1614	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	452					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1355G>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807992	0.02819	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29917	1.59;1.55	3.4	-5.98	0.02220	.	1.037760	0.07723	N	0.943966	T	0.10852	0.0265	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.35325	-0.9793	10	0.02654	T	1	-0.0822	1.9469	0.03358	0.1979:0.288:0.3713:0.1428	.	452	Q0P6D6	CCD15_HUMAN	K	452	ENSP00000435403:R452K;ENSP00000341684:R452K	ENSP00000341684:R452K	R	+	2	0	CCDC15	124362687	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.489000	0.02306	-1.056000	0.03205	0.563000	0.77884	AGA		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		73	440	0	0	0	1	0	73	440					A	124857477	G	A	124857477	3	1	79	1	0	0	0	0	1	0	0	0	2791	942	33	2	1381	2	CCDC15	11	124857477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12468	124857477	10149039	12823	23140											
CCDC15	80071	broad.mit.edu	37	chr11	124875078	124875078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaagttaaagaacaacaaaGgcaaaaagaacaaaagaaga	7	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124875078G>T	ENST00000344762.5	+	13	2640	c.2381G>T	c.(2380-2382)aGg>aTg	p.R794M	CCDC15_ENST00000529051.1_Missense_Mutation_p.R794M	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	794						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAACAACAAAGGCAAAAAGAA	0.323																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2380-2382)aGg>aTg		coiled-coil domain containing 15							42	36	38					11																	124875078		1820	4075	5895	SO:0001583	missense	80071					centrosome		g.chr11:124875078G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2381G>T	11.37:g.124875078G>T	ENSP00000341684:p.Arg794Met					CCDC15_ENST00000344762.5_Missense_Mutation_p.R794M	p.R794M			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	13	2640	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	794					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2381G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224578	0.79576	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.51817	0.77;0.69	5.42	5.42	0.78866	.	0.203936	0.25302	N	0.031658	T	0.67924	0.2945	M	0.64404	1.975	0.34015	D	0.651963	D	0.89917	1.0	D	0.91635	0.999	T	0.76088	-0.3087	10	0.87932	D	0	-7.2111	18.3628	0.90380	0.0:0.0:1.0:0.0	.	794	Q0P6D6	CCD15_HUMAN	M	794	ENSP00000435403:R794M;ENSP00000341684:R794M	ENSP00000341684:R794M	R	+	2	0	CCDC15	124380288	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.052000	0.57420	2.689000	0.91719	0.655000	0.94253	AGG		0.323	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	33	1	0	0.004672	1	0.00470394	3	33					T	124875078	G	T	124875078	3	4	79	1	0	0	0	0	1	0	0	0	2791	1000	35	3	2427	3	CCDC15	11	124875078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17601	124875078	10131438	12824	23141											
SLC37A2	219855	broad.mit.edu	37	chr11	124951718	124951718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctctatcagggagagCggccttgagactgtggccaa	13	12	2	2	rs181024684	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	267					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCAGGGAGAGCGGCCTTGAGA	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18260	0.0		0.001	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	ENST00000403796.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27						c.(799-801)agC>agT		solute carrier family 37 (glucose-6-phosphate transporter), member 2							68	65	66					11																	124951718		2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124951718C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.801C>T	11.37:g.124951718C>T						SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	9	1102	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	267					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.801C>T	CCDS44757.1																																																																																				0.597	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		42	234	0	0	0	1	0	42	234					T	124951718	C	T	124951718	2	4	79	1	0	0	0	0	0	0	0	1	14648	767	27	1		1	SLC37A2	11	124951718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76640	124951718	10054798	12825	23142											
PKNOX2	63876	broad.mit.edu	37	chr11	125255507	125255507	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaacaggccacccagggCtctgagtgcatcacctccgc	11	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125255507C>A	ENST00000298282.9	+	6	559	c.288C>A	c.(286-288)ggC>ggA	p.G96G	PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	96					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCACCCAGGGCTCTGAGTGCA	0.552																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(286-288)ggC>ggA		PBX/knotted 1 homeobox 2							122	124	124					11																	125255507		2080	4228	6308	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255507C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.288C>A	11.37:g.125255507C>A						PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	p.G96G	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	559	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	96					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.288C>A	CCDS41730.1																																																																																				0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			19	456	1	0	0.00152264	1	0.00153772	19	456					A	125255507	C	A	125255507	2	1	79	1	0	0	0	0	0	0	0	1	12025	784	28	3		3	PKNOX2	11	125255507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303789	125255507	9751009	12826	23143											
PKNOX2	63876	broad.mit.edu	37	chr11	125267823	125267823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctggagctggagaaagtCaatgaactctgcaaggactt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	151					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(451-453)gtC>gtT		PBX/knotted 1 homeobox 2							112	120	117					11																	125267823		1984	4186	6170	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267823C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.453C>T	11.37:g.125267823C>T						PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	p.V151V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	724	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	151					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.453C>T	CCDS41730.1																																																																																				0.522	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			93	359	0	0	0	1	0	93	359					T	125267823	C	T	125267823	2	4	79	1	0	0	0	0	0	0	0	1	12025	813	29	2		2	PKNOX2	11	125267823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12316	125267823	9738693	12827	23144											
PKNOX2	63876	broad.mit.edu	37	chr11	125301267	125301267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgacctgggcttggaAcacagtgactccctggagta	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125301267A>G	ENST00000298282.9	+	13	1669	c.1398A>G	c.(1396-1398)gaA>gaG	p.E466E	PKNOX2_ENST00000542175.1_Silent_p.E402E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	466					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGGCTTGGAACACAGTGACT	0.607																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1396-1398)gaA>gaG		PBX/knotted 1 homeobox 2							51	58	56					11																	125301267		2152	4240	6392	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301267A>G	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1398A>G	11.37:g.125301267A>G						PKNOX2_ENST00000542175.1_Silent_p.E402E|PKNOX2_ENST00000530517.1_3'UTR	p.E466E	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1669	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	466					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.1398A>G	CCDS41730.1																																																																																				0.607	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			4	168	0	0	0	1	0	4	168					G	125301267	A	G	125301267	2	3	79	1	0	0	0	0	0	0	0	1	12025	40	2	4		4	PKNOX2	11	125301267	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33444	125301267	9705249	12828	23145											
EI24	9538	broad.mit.edu	37	chr11	125445239	125445239	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagagagaggagcagcgTcgaagaagggcaagtagtgt	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	ENST00000278903.6	+	3	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Silent_p.R41R|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	41	Poly-Arg.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGGAGCAGCGTCGAAGAAGGG	0.463																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(121-123)cgT>cgC		etoposide induced 2.4							68	70	69					11																	125445239		2016	4189	6205	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125445239T>C	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.123T>C	11.37:g.125445239T>C						STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.R41R	p.R41R	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	3	365	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	41			Poly-Arg.		A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.123T>C																																																																																					0.463	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		7	29	0	0	0	1	0	7	29					C	125445239	T	C	125445239	2	2	79	1	0	0	0	0	0	0	0	1	5001	1654	58	4		4	EI24	11	125445239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143972	125445239	9561277	12829	23146											
EI24	9538	broad.mit.edu	37	chr11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accagcggttgtctaacataGaaaggaattggccttactac	9	9	1	1	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000278903.6	+	9	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Intron|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	236					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTCTAACATAGAAAGGAATTG	0.368																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(706-708)Gaa>Taa		etoposide induced 2.4							96	93	94					11																	125451139		1826	4091	5917	SO:0001587	stop_gained	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125451139G>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.706G>T	11.37:g.125451139G>T	ENSP00000278903:p.Glu236*					STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron	p.E236*	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	9	948	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	236					A8K7D6|B4DKL6|Q9BUQ1	Nonsense_Mutation	SNP	ENST00000278903.6	37	c.706G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.653943	0.98412	.	.	ENSG00000149547	ENST00000278903	.	.	.	5.41	5.41	0.78517	.	0.091308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000278903:E236X	E	+	1	0	EI24	124956349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.826000	0.97356	0.655000	0.94253	GAA		0.368	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		26	168	1	0	1.33986e-20	1	1.50291e-20	26	168					T	125451139	G	T	125451139	4	4	79	1	0	0	0	0	0	1	0	0	5001	943	33	3	736	3	EI24	11	125451139	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5900	125451139	9555377	12830	23147											
ACRV1	56	broad.mit.edu	37	chr11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatttcgacagcatataAtttgcatcctcgttccatgg	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	253					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(757-759)aTt>aGt		acrosomal vesicle protein 1							183	161	168					11																	125542528		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125542528A>C	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.758T>G	11.37:g.125542528A>C	ENSP00000432816:p.Ile253Ser					ACRV1_ENST00000433875.1_Missense_Mutation_p.I234S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000257382.2_Missense_Mutation_p.I198S|ACRV1_ENST00000426183.1_Missense_Mutation_p.I183S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S	p.I253S			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	4	1100	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	253					Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.758T>G	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642964	0.67244	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.26	4.26	0.50523	.	0.109289	0.40222	N	0.001156	T	0.43590	0.1254	M	0.64404	1.975	0.37751	D	0.925961	P;D;D;P;D;D;D;D;D	0.89917	0.929;0.999;1.0;0.95;1.0;0.976;0.98;0.984;0.959	P;D;D;P;D;P;P;P;P	0.69824	0.762;0.95;0.966;0.625;0.966;0.707;0.81;0.791;0.583	T	0.45041	-0.9288	10	0.48119	T	0.1	-3.8873	10.0696	0.42325	1.0:0.0:0.0:0.0	.	253;234;143;69;158;198;109;183;164	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	S	253;234;198;183;164;158;153;143;109;69;234;198;183	ENSP00000432816:I253S;ENSP00000407846:I234S;ENSP00000257382:I198S;ENSP00000411583:I183S;ENSP00000397448:I164S;ENSP00000412653:I158S;ENSP00000257385:I153S;ENSP00000257383:I143S;ENSP00000395453:I109S;ENSP00000257386:I69S;ENSP00000317684:I234S;ENSP00000433720:I198S;ENSP00000436819:I183S	ENSP00000257382:I198S	I	-	2	0	ACRV1	125047738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.646000	0.54396	2.151000	0.67156	0.523000	0.50628	ATT		0.443	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		105	494	0	0	0	1	0	105	494					C	125542528	A	C	125542528	3	2	79	1	0	0	0	0	1	0	0	0	172	101	4	4	43	4	ACRV1	11	125542528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91389	125542528	9463988	12831	23148											
ACRV1	56	broad.mit.edu	37	chr11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacatgcactgctgggaattCtgagtgatgcaggttccctc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	212					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(634-636)caG>caT		acrosomal vesicle protein 1							147	143	144					11																	125546291		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125546291C>A	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.636G>T	11.37:g.125546291C>A	ENSP00000432816:p.Gln212His					ACRV1_ENST00000433875.1_Missense_Mutation_p.Q193H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000257382.2_Missense_Mutation_p.Q157H|ACRV1_ENST00000426183.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H	p.Q212H			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	3	978	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	212					Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.636G>T	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598244	0.66332	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.69	2.76	0.32466	.	0.178796	0.27415	N	0.019476	T	0.42787	0.1218	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.984;0.967;0.996;0.985;0.974;0.998;0.996	P;P;D;P;P;D;D	0.66847	0.851;0.748;0.921;0.864;0.641;0.947;0.94	T	0.26608	-1.0098	10	0.59425	D	0.04	-0.0754	5.1993	0.15254	0.2036:0.6892:0.0:0.1072	.	212;193;117;157;68;142;123	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	H	212;193;157;142;123;117;112;68;193;157;142	ENSP00000432816:Q212H;ENSP00000407846:Q193H;ENSP00000257382:Q157H;ENSP00000411583:Q142H;ENSP00000397448:Q123H;ENSP00000412653:Q117H;ENSP00000257385:Q112H;ENSP00000395453:Q68H;ENSP00000317684:Q193H;ENSP00000433720:Q157H;ENSP00000436819:Q142H	ENSP00000257382:Q157H	Q	-	3	2	ACRV1	125051501	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	0.660000	0.30964	0.655000	0.94253	CAG		0.398	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		106	431	1	0	5.89325e-56	1	7.37154e-56	106	431					A	125546291	C	A	125546291	3	1	79	1	0	0	0	0	1	0	0	0	172	912	32	3	169	3	ACRV1	11	125546291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3763	125546291	9460225	12832	23149											
PUS3	83480	broad.mit.edu	37	chr11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagcagctcatcaataatCtctggcttctccattccttg	5	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000530811.1	-	2	936	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	297					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CATCAATAATCTCTGGCTTCT	0.403																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(889-891)gaG>gaT		pseudouridylate synthase 3							94	97	96					11																	125765172		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765172C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.891G>T	11.37:g.125765172C>A	ENSP00000432386:p.Glu297Asp					HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron	p.E297D	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	988	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	297					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.891G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811514	0.32053	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55930	0.49;0.49	5.73	-1.31	0.09230	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.143577	0.64402	N	0.000008	T	0.29976	0.0750	L	0.35341	1.055	0.40461	D	0.980245	B	0.12630	0.006	B	0.15052	0.012	T	0.04115	-1.0976	10	0.31617	T	0.26	-5.9672	0.7425	0.00976	0.2463:0.32:0.1106:0.3231	.	297	Q9BZE2	PUS3_HUMAN	D	297	ENSP00000227474:E297D;ENSP00000432386:E297D	ENSP00000227474:E297D	E	-	3	2	PUS3	125270382	0.020000	0.18652	0.517000	0.27799	0.997000	0.91878	-0.097000	0.11042	-0.252000	0.09528	0.591000	0.81541	GAG		0.403	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		91	396	1	0	2.67636e-39	1	3.23553e-39	91	396					A	125765172	C	A	125765172	3	1	79	1	0	0	0	0	1	0	0	0	12882	912	32	3	562	3	PUS3	11	125765172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218881	125765172	9241344	12833	23150											
DDX25	29118	broad.mit.edu	37	chr11	125788671	125788671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttctcataacaactaAtgtttgtgcccgaggtgtgt	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	ENST00000263576.6	+	10	1342	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATAACAACTAATGTTTGTGCC	0.448																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1186-1188)aAt>aCt		DEAD (Asp-Glu-Ala-Asp) box helicase 25							108	104	105					11																	125788671		1919	4137	6056	SO:0001583	missense	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125788671A>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1187A>C	11.37:g.125788671A>C	ENSP00000263576:p.Asn396Thr					DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	p.N396T	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	10	1342	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	396			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	c.1187A>C	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925599	0.18056	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04758	3.56	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.144864	0.48767	D	0.000163	T	0.21022	0.0506	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00293	-1.1841	10	0.87932	D	0	-12.2522	14.344	0.66646	1.0:0.0:0.0:0.0	.	396;396	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	282;396;262	ENSP00000263576:N396T	ENSP00000263576:N396T	N	+	2	0	DDX25	125293881	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	8.870000	0.92336	2.047000	0.60756	0.459000	0.35465	AAT		0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		16	52	0	0	0	1	0	16	52					C	125788671	A	C	125788671	3	2	79	1	0	0	0	0	1	0	0	0	4363	101	4	4	1225	4	DDX25	11	125788671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23499	125788671	9217845	12834	23151											
CDON	50937	broad.mit.edu	37	chr11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaagctccaggaacacGtttcactagttgaaatataa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000263577.7_Missense_Mutation_p.R927C|CDON_ENST00000531738.1_Missense_Mutation_p.R304C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	927					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGGAACACGTTTCACTAGT	0.453																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2779-2781)Cgt>Tgt		cell adhesion associated, oncogene regulated							38	39	38					11																	125853983		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125853983G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2779C>T	11.37:g.125853983G>A	ENSP00000376458:p.Arg927Cys					CDON_ENST00000263577.7_Missense_Mutation_p.R927C|CDON_ENST00000531738.1_Missense_Mutation_p.R304C	p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	16	2906	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	927					O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2779C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948655	0.73787	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70282	-0.46;0.22;-0.47	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000125	D	0.83078	0.5176	M	0.70595	2.14	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.943	D	0.84068	0.0378	10	0.72032	D	0.01	-22.7941	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	927;927;304	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	927;304;927	ENSP00000376458:R927C;ENSP00000432901:R304C;ENSP00000263577:R927C	ENSP00000263577:R927C	R	-	1	0	CDON	125359193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.783000	0.95769	0.655000	0.94253	CGT		0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		36	155	0	0	0	1	0	36	155					A	125853983	G	A	125853983	3	1	79	1	0	0	0	0	1	0	0	0	3179	1145	40	1	1035	1	CDON	11	125853983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65312	125853983	9152533	12835	23152											
RPUSD4	84881	broad.mit.edu	37	chr11	126079531	126079531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtccagccggtggcacaGatgcaagggctctgccttgt	13	12	1	1	rs577525831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L148L|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'Flank|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	148					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(442-444)Ctg>Ttg		RNA pseudouridylate synthase domain containing 4							237	220	226					11																	126079531		2201	4299	6500	SO:0001819	synonymous_variant	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126079531G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.442C>T	11.37:g.126079531G>A						RPUSD4_ENST00000533628.1_Silent_p.L148L|RPUSD4_ENST00000534393.1_5'UTR	p.L148L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	3	495	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	148					E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	c.442C>T	CCDS8469.1																																																																																				0.522	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		198	1007	0	0	0	1	0	198	1007					A	126079531	G	A	126079531	2	1	79	1	0	0	0	0	0	0	0	1	13719	933	33	2		2	RPUSD4	11	126079531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225548	126079531	8926985	12836	23153											
SRPR	6734	broad.mit.edu	37	chr11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggtgcccacaaagaCgatgggtttgcttgtgatgt	14	9	0	2	rs149620514	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000332118.6	-	14	1988	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	612					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20870	0.001		0.0	False		,,,				2504	0.0					ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1834-1836)Gtc>Atc		signal recognition particle receptor (docking protein)							147	133	138					11																	126133894		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126133894C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1834G>A	11.37:g.126133894C>T	ENSP00000328023:p.Val612Ile					SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	p.V612I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	14	1988	-	all_hematologic(175;0.145)		612					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1834G>A	CCDS31717.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	26.2	4.712081	0.89112	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.89	4.89	0.63831	Signal recognition particle, SRP54 subunit, GTPase (3);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.41124	1.26	0.80722	D	1	D;P	0.56521	0.976;0.951	P;P	0.51453	0.67;0.67	T	0.59600	-0.7424	9	0.38643	T	0.18	-17.3446	18.2376	0.89954	0.0:1.0:0.0:0.0	.	584;612	E9PJS4;P08240	.;SRPR_HUMAN	I	612;584	.	ENSP00000328023:V612I	V	-	1	0	SRPR	125639104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.535000	0.85469	0.591000	0.81541	GTC		0.537	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		99	392	0	0	0	1	0	99	392					T	126133894	C	T	126133894	3	4	79	1	0	0	0	0	1	0	0	0	15214	536	19	1	86	1	SRPR	11	126133894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54363	126133894	8872622	12837	23154											
DCPS	28960	broad.mit.edu	37	chr11	126213270	126213270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctacgcgaccttactccGgagcacttgccgctgctcag	9	17	1	0	rs577236215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126213270G>A	ENST00000263579.4	+	5	1034	c.705G>A	c.(703-705)ccG>ccA	p.P235P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	235					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ACCTTACTCCGGAGCACTTGC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19452	0.0		0.0	False		,,,				2504	0.0					ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(703-705)ccG>ccA		decapping enzyme, scavenger							72	54	60					11																	126213270		2201	4298	6499	SO:0001819	synonymous_variant	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126213270G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.705G>A	11.37:g.126213270G>A						DCPS_ENST00000530860.1_3'UTR	p.P235P	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	5	1034	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	235					Q8NHL8|Q9Y2S5	Silent	SNP	ENST00000263579.4	37	c.705G>A	CCDS8473.1																																																																																				0.572	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		6	152	0	0	0	1	0	6	152					A	126213270	G	A	126213270	2	1	79	1	0	0	0	0	0	0	0	1	4312	1103	39	1		1	DCPS	11	126213270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79376	126213270	8793246	12838	23155											
DCPS	28960	broad.mit.edu	37	chr11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatgtgcacttcaccGccctgggcttcgaggccccc	10	18	1	0	rs527294427|rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	282					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(844-846)Gcc>Acc		decapping enzyme, scavenger							158	112	127					11																	126215338		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215338G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.844G>A	11.37:g.126215338G>A	ENSP00000263579:p.Ala282Thr					DCPS_ENST00000530860.1_3'UTR	p.A282T	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1173	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	282					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.844G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637183	0.67130	.	.	ENSG00000110063	ENST00000263579	D	0.95821	-3.82	5.16	5.16	0.70880	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.367893	0.30969	N	0.008519	D	0.95201	0.8444	L	0.43152	1.355	0.43122	D	0.994846	D	0.64830	0.994	P	0.53954	0.738	D	0.93806	0.7105	10	0.23302	T	0.38	-15.2573	18.7289	0.91726	0.0:0.0:1.0:0.0	.	282	Q96C86	DCPS_HUMAN	T	282	ENSP00000263579:A282T	ENSP00000263579:A282T	A	+	1	0	DCPS	125720548	0.997000	0.39634	0.997000	0.53966	0.787000	0.44495	4.946000	0.63576	2.421000	0.82119	0.555000	0.69702	GCC		0.632	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		121	555	0	0	0	1	0	121	555					A	126215338	G	A	126215338	3	1	79	1	0	0	0	0	1	0	0	0	4312	1087	38	1	866	1	DCPS	11	126215338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	126215338	8791178	12839	23156											
DCPS	28960	broad.mit.edu	37	chr11	126215354	126215354	+	Frame_Shift_Del	DEL	C	C	-													caccgccctgggcttcgaggCccccggctcaggcgtggagc					rs375647806		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215354delC	ENST00000263579.4	+	6	1189	c.860delC	c.(859-861)gccfs	p.A287fs	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	287					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GGCTTCGAGGCCCCCGGCTCA	0.637																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(859-861)gcfs		decapping enzyme, scavenger							133	101	112					11																	126215354		2201	4298	6499	SO:0001589	frameshift_variant	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215354delC	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.860delC	11.37:g.126215354delC	ENSP00000263579:p.Ala287fs					DCPS_ENST00000530860.1_3'UTR	p.A287fs	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1189	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	287					Q8NHL8|Q9Y2S5	Frame_Shift_Del	DEL	ENST00000263579.4	37	c.860delC	CCDS8473.1																																																																																				0.637	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		7	750						7	750	---	---	---	---	-	126215354	C	-	126215354	7	5	79	1	0	1	0	1	0	0	0	0	4312	739	26	0	882	0	DCPS	11	126215354	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	16	126215354	8791162	12840	23157											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaacgggcaccggctgCggaacagctcactgggagat	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	130					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCACCGGCTGCGGAACAGCTC	0.577																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(388-390)Cgg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							145	143	143					11																	126278040		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278040C>T	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.388C>T	11.37:g.126278040C>T	ENSP00000436047:p.Arg130Trp					ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W	p.R130W			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	6	762	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	130					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.388C>T	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812726	0.50527	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.19	3.17	0.36434	.	.	.	.	.	T	0.50171	0.1600	M	0.64404	1.975	0.28631	N	0.90763	D;D	0.64830	0.994;0.994	D;D	0.65233	0.933;0.933	T	0.46803	-0.9165	9	0.72032	D	0.01	.	13.6837	0.62502	0.3868:0.6132:0.0:0.0	.	126;130	Q6IBE6;Q11206	.;SIA4C_HUMAN	W	126;130;136;126;130;130;130;130;119;129;125	ENSP00000227495:R126W;ENSP00000394354:R130W;ENSP00000348451:R136W;ENSP00000433989:R126W;ENSP00000433318:R130W;ENSP00000432424:R130W;ENSP00000376437:R130W;ENSP00000436047:R130W;ENSP00000399444:R119W;ENSP00000434349:R129W;ENSP00000434668:R125W	ENSP00000227495:R126W	R	+	1	2	ST3GAL4	125783250	0.964000	0.33143	0.510000	0.27712	0.212000	0.24457	2.227000	0.42972	1.287000	0.44583	0.561000	0.74099	CGG		0.577	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		57	287	0	0	0	1	0	57	287					T	126278040	C	T	126278040	3	4	79	1	0	0	0	0	1	0	0	0	15269	759	27	1	398	1	ST3GAL4	11	126278040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62686	126278040	8728476	12841	23158											
ST3GAL4	6484	broad.mit.edu	37	chr11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccctggccattaagcGgatgctggagatgggagcta	16	8	0	2	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	320					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCATTAAGCGGATGCTGGAG	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		19414	0.0		0.002	False		,,,				2504	0.001					ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(958-960)cGg>cAg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	122	112	115		947	5.6	1	11	dbSNP_134	115	18,8576	13.3+/-46.6	0,18,4279	yes	missense	ST3GAL4	NM_006278.1	43	0,19,6479	AA,AG,GG		0.2094,0.0227,0.1462	probably-damaging	316/330	126283899	19,12977	2201	4297	6498	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283899G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.959G>A	11.37:g.126283899G>A	ENSP00000436047:p.Arg320Gln					ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q	p.R320Q			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	10	1333	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	320					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.959G>A	CCDS58193.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.49	3.837154	0.71373	2.27E-4	0.002094	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.63	5.63	0.86233	.	.	.	.	.	T	0.39064	0.1064	L	0.43152	1.355	0.38415	D	0.946021	D;D	0.67145	0.996;0.996	P;P	0.56563	0.801;0.801	T	0.12451	-1.0547	9	0.32370	T	0.25	.	12.2135	0.54394	0.0781:0.0:0.9219:0.0	.	316;320	Q6IBE6;Q11206	.;SIA4C_HUMAN	Q	316;320;326;316;320;320;320;309;319;315	ENSP00000227495:R316Q;ENSP00000394354:R320Q;ENSP00000348451:R326Q;ENSP00000433989:R316Q;ENSP00000433318:R320Q;ENSP00000376437:R320Q;ENSP00000436047:R320Q;ENSP00000399444:R309Q;ENSP00000434349:R319Q;ENSP00000434668:R315Q	ENSP00000227495:R316Q	R	+	2	0	ST3GAL4	125789109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.656000	0.90262	0.561000	0.74099	CGG		0.572	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		39	217	0	0	0	1	0	39	217					A	126283899	G	A	126283899	3	1	79	1	0	0	0	0	1	0	0	0	15269	1116	39	1	985	1	ST3GAL4	11	126283899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5859	126283899	8722617	12842	23159											
KIRREL3	84623	broad.mit.edu	37	chr11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctgctgctgacgctgCtgtcacactgcgtgtccagg	13	14	1	1	rs375680865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	729	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(2185-2187)aGc>aAc		kin of IRRE like 3 (Drosophila)							106	114	111					11																	126294626		2190	4289	6479	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126294626C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2186G>A	11.37:g.126294626C>T	ENSP00000435466:p.Ser729Asn					KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N	p.S729N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	17	2435	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	729			Ser-rich.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.2186G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736977	0.89482	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.46451	0.87;0.87;0.87	4.88	4.88	0.63580	.	0.048757	0.85682	D	0.000000	T	0.28896	0.0717	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.33694	0.421;0.421	B;B	0.29785	0.107;0.107	T	0.17837	-1.0356	10	0.52906	T	0.07	-13.4121	17.8235	0.88657	0.0:1.0:0.0:0.0	.	717;729	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	N	729;717;196	ENSP00000435466:S729N;ENSP00000434081:S717N;ENSP00000408692:S196N	ENSP00000408692:S196N	S	-	2	0	KIRREL3	125799836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.543000	0.85770	0.655000	0.94253	AGC		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		36	374	0	0	0	1	0	36	374					T	126294626	C	T	126294626	3	4	79	1	0	0	0	0	1	0	0	0	8356	797	28	2	154	2	KIRREL3	11	126294626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10727	126294626	8711890	12843	23160											
KIRREL3	84623	broad.mit.edu	37	chr11	126294877	126294877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcggggttgagtggtgCtctttgaaggtgttgacgct	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000416561.2_Silent_p.E112E|KIRREL3_ENST00000529097.2_Silent_p.E633E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	645					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1933-1935)gaG>gaA		kin of IRRE like 3 (Drosophila)							29	36	33					11																	126294877		2159	4270	6429	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126294877C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1935G>A	11.37:g.126294877C>T						KIRREL3_ENST00000416561.2_Silent_p.E112E|KIRREL3_ENST00000529097.2_Silent_p.E633E	p.E645E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	17	2184	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	645					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1935G>A	CCDS53723.1																																																																																				0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		11	68	0	0	0	1	0	11	68					T	126294877	C	T	126294877	2	4	79	1	0	0	0	0	0	0	0	1	8356	796	28	2		2	KIRREL3	11	126294877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	126294877	8711639	12844	23161											
KIRREL3	84623	broad.mit.edu	37	chr11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccactccggagccccGcttcatccagacgatggtca	8	18	3	1	rs542711141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	371	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGGAGCCCCGCTTCATCCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17626	0.0		0.001	False		,,,				2504	0.0					ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1111-1113)Cgg>Tgg		kin of IRRE like 3 (Drosophila)							27	30	29					11																	126316668		2011	4171	6182	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126316668G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1111C>T	11.37:g.126316668G>A	ENSP00000435466:p.Arg371Trp					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	9	1360	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	371			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1111C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733469	0.48939	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.28069	1.63;1.63;1.63	4.77	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.55101	-0.8193	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.844:0.156	.	371;371;371	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	371	ENSP00000435466:R371W;ENSP00000434081:R371W;ENSP00000435094:R371W	ENSP00000435466:R371W	R	-	1	2	KIRREL3	125821878	0.993000	0.37304	1.000000	0.80357	0.403000	0.30841	2.427000	0.44740	0.949000	0.37715	0.297000	0.19635	CGG		0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		7	41	0	0	0	1	0	7	41					A	126316668	G	A	126316668	3	1	79	1	0	0	0	0	1	0	0	0	8356	1086	38	1	1368	1	KIRREL3	11	126316668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21791	126316668	8689848	12845	23162											
FLI1	2313	broad.mit.edu	37	chr11	128680721	128680721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccagcagaaggtgaaCtttgtccctccccatccatc	7	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000527786.2	+	9	1686	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.2_Silent_p.N366N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	399					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGAAGGTGAACTTTGTCCCTC	0.572			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1096-1098)aaC>aaT		Fli-1 proto-oncogene, ETS transcription factor							107	113	111					11																	128680721		2134	4226	6360	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680721C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1197C>T	11.37:g.128680721C>T						FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.1_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000429175.2_Silent_p.N399N	p.N366N			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1486	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	399					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1098C>T	CCDS44768.1																																																																																				0.572	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		13	235	0	0	0	1	0	13	235					T	128680721	C	T	128680721	2	4	79	1	0	0	0	0	0	0	0	1	5949	564	20	2		2	FLI1	11	128680721	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2364053	128680721	6325795	12846	23163											
KCNJ1	3758	broad.mit.edu	37	chr11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catctgtttcattgacttctGacaagatgaagttggggttg	11	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392664.2	-	2	1258	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	KCNJ1_ENST00000392665.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	381					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATTGACTTCTGACAAGATGAA	0.433																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(1084-1086)tCa>tTa		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						123	107	113					11																	128709054		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709054G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.1142C>T	11.37:g.128709054G>A	ENSP00000376432:p.Ser381Leu					KCNJ1_ENST00000392664.2_Missense_Mutation_p.S381L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L	p.S362L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1229	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	381					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.1085C>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	2.846	-0.239413	0.05944	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.39	5.61	4.67	0.58626	.	0.761422	0.12512	N	0.462434	T	0.76962	0.4061	N	0.08118	0	0.30629	N	0.757678	B	0.14012	0.009	B	0.06405	0.002	T	0.63093	-0.6714	10	0.08837	T	0.75	.	14.3961	0.67013	0.0:0.0:0.7371:0.2629	.	381	P48048	IRK1_HUMAN	L	362;362;362;362;381	ENSP00000376433:S362L;ENSP00000376434:S362L;ENSP00000406320:S362L;ENSP00000316233:S362L;ENSP00000376432:S381L	ENSP00000316233:S362L	S	-	2	0	KCNJ1	128214264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.657000	0.61490	2.635000	0.89317	0.563000	0.77884	TCA		0.433	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		38	214	0	0	0	1	0	38	214					A	128709054	G	A	128709054	3	1	79	1	0	0	0	0	1	0	0	0	8073	1294	45	2	37	2	KCNJ1	11	128709054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28333	128709054	6297462	12847	23164											
KCNJ5	3762	broad.mit.edu	37	chr11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcatgttccgggtgggcGacctccgcaactcccacatc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(667-669)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						94	94	94					11																	128781835		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781835G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	11.37:g.128781835G>A	ENSP00000339960:p.Asp223Asn					KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D223N	p.D223N	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1043	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	223					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.667G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	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	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		78	424	0	0	0	1	0	78	424					A	128781835	G	A	128781835	3	1	79	1	0	0	0	0	1	0	0	0	8084	1058	37	1	669	1	KCNJ5	11	128781835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72781	128781835	6224681	12848	23165											
KCNJ5	3762	broad.mit.edu	37	chr11	128786590	128786590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatgagcccaagggGctgggtgggtccagggaggc	20	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000338350.4	+	4	1576	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	408					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1222-1224)ggG>ggA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						12	14	13					11																	128786590		2191	4266	6457	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786590G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1224G>A	11.37:g.128786590G>A						KCNJ5_ENST00000533599.1_Silent_p.G408G|KCNJ5_ENST00000338350.4_Silent_p.G408G	p.G408G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1600	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	408					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1224G>A	CCDS8479.1																																																																																				0.647	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		33	138	0	0	0	1	0	33	138					A	128786590	G	A	128786590	2	1	79	1	0	0	0	0	0	0	0	1	8084	1190	42	2		2	KCNJ5	11	128786590	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4755	128786590	6219926	12849	23166											
TP53AIP1	63970	broad.mit.edu	37	chr11	128807455	128807455	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgaggacccagatgCtgtcactgggtcctggtgag	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128807455C>T	ENST00000531399.1	-	2	351				TP53AIP1_ENST00000602346.1_Missense_Mutation_p.A87T|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000530777.1_Intron	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1						apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GACCCAGATGCTGTCACTGGG	0.582																																						ENST00000602346.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(259-261)Gca>Aca		tumor protein p53 regulated apoptosis inducing protein 1							64	60	61					11																	128807455		2201	4297	6498	SO:0001627	intron_variant	63970				apoptosis	mitochondrion		g.chr11:128807455C>T	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.141+117G>A	11.37:g.128807455C>T						TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron	p.A87T	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN			2	468	-			0					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Missense_Mutation	SNP	ENST00000531399.1	37	c.259G>A	CCDS8480.2	.	.	.	.	.	.	.	.	.	.	c	2.487	-0.318344	0.05386	.	.	ENSG00000120471	ENST00000263583	.	.	.	1.39	-2.07	0.07276	.	.	.	.	.	T	0.21509	0.0518	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	7	0.19590	T	0.45	.	5.1737	0.15124	0.0:0.4074:0.0:0.5926	.	87	Q9HCN2-3	.	T	87	.	ENSP00000263583:A87T	A	-	1	0	TP53AIP1	128312665	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.164000	0.09983	-0.721000	0.04929	-0.876000	0.02978	GCA		0.582	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1	NM_022112		14	283	0	0	0	1	0	14	283					T	128807455	C	T	128807455	1	4	79	0	1	0	0	0	0	0	0	0	16435	797	28	2		2	TP53AIP1	11	128807455	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	128807455	6199061	12850	23167											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcctaacccagggtcGctccatctctttggagagcc	11	14	1	1	rs543689971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000310343.9	-	22	5847	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5848-5850)Cga>Tga		Rho GTPase activating protein 32							85	85	85					11																	128839218		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839218G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5848C>T	11.37:g.128839218G>A	ENSP00000310561:p.Arg1950*					ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000524655.1_3'UTR	p.R1950*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5847	-			1950			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.5848C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.648363	0.98899	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	0.409	0.16382	.	0.091682	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1038	0.53801	0.0641:0.0:0.5541:0.3818	.	.	.	.	X	1950;1601;1601	.	ENSP00000310561:R1950X	R	-	1	2	ARHGAP32	128344428	0.640000	0.27243	0.274000	0.24659	0.971000	0.66376	0.127000	0.15790	-0.184000	0.10567	0.655000	0.94253	CGA		0.517	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		116	417	0	0	0	1	0	116	417					A	128839218	G	A	128839218	4	1	79	1	0	0	0	0	0	1	0	0	881	1095	38	1	419	1	ARHGAP32	11	128839218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31763	128839218	6167298	12851	23168											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatggcttctccggctgcGtgctaccatggcctccgtga	14	13	1	1	rs577826686		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000310343.9	-	22	5542	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1848	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5542-5544)aCg>aTg		Rho GTPase activating protein 32							60	55	57					11																	128839523		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839523G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5543C>T	11.37:g.128839523G>A	ENSP00000310561:p.Thr1848Met					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000524655.1_3'UTR	p.T1848M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5542	-			1848			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5543C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116592	0.06838	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08720	3.06;3.06;3.06	6.07	-0.14	0.13456	.	0.721795	0.13291	N	0.399017	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.26310	0.068	T	0.40757	-0.9546	10	0.49607	T	0.09	.	2.2666	0.04080	0.2839:0.4168:0.1589:0.1404	.	1848	A7KAX9	RHG32_HUMAN	M	1848;1499;1499	ENSP00000310561:T1848M;ENSP00000376425:T1499M;ENSP00000432862:T1499M	ENSP00000310561:T1848M	T	-	2	0	ARHGAP32	128344733	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.729000	0.26028	-0.262000	0.09392	0.655000	0.94253	ACG		0.617	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		62	274	0	0	0	1	0	62	274					A	128839523	G	A	128839523	3	1	79	1	0	0	0	0	1	0	0	0	881	1145	40	1	724	1	ARHGAP32	11	128839523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	128839523	6166993	12852	23169											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgagactgtaccaatgaCttctgacacccgtggtggta	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000310343.9	-	20	2763	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	922					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2764-2766)Gtc>Atc		Rho GTPase activating protein 32							187	171	176					11																	128844286		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844286C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2764G>A	11.37:g.128844286C>T	ENSP00000310561:p.Val922Ile					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	p.V922I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2763	-			922					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2764G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463911	0.26335	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.81	5.81	0.92471	.	0.522811	0.19795	N	0.105895	T	0.20577	0.0495	L	0.57536	1.79	0.22366	N	0.999161	B;B	0.30741	0.008;0.293	B;B	0.24541	0.016;0.054	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.7703	0.40585	0.1405:0.7889:0.0:0.0706	.	856;922	Q86T64;A7KAX9	.;RHG32_HUMAN	I	922;573;848;856;573	ENSP00000310561:V922I;ENSP00000376425:V573I;ENSP00000432468:V848I;ENSP00000432862:V573I	ENSP00000310561:V922I	V	-	1	0	ARHGAP32	128349496	0.960000	0.32886	1.000000	0.80357	0.683000	0.39861	1.044000	0.30329	2.745000	0.94114	0.655000	0.94253	GTC		0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		93	311	0	0	0	1	0	93	311					T	128844286	C	T	128844286	3	4	79	1	0	0	0	0	1	0	0	0	881	565	20	2	3511	2	ARHGAP32	11	128844286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	128844286	6162230	12853	23170											
BARX2	8538	broad.mit.edu	37	chr11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcaggagcagctggAgccctctcaggggcaggagg	18	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	235					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|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)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(703-705)gAg>gGg		BARX homeobox 2							69	62	64					11																	129321161		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129321161A>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.704A>G	11.37:g.129321161A>G	ENSP00000281437:p.Glu235Gly					BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	p.E235G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	800	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	235					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.704A>G	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181217	0.38511	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90504	-2.68;-2.32;-2.3	5.51	-1.45	0.08828	.	0.968359	0.08586	N	0.923773	T	0.79215	0.4408	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61840	-0.6980	10	0.30078	T	0.28	.	4.3094	0.10964	0.4623:0.3558:0.0668:0.1151	.	235	Q9UMQ3	BARX2_HUMAN	G	235;90;113	ENSP00000281437:E235G;ENSP00000451113:E90G;ENSP00000450418:E113G	ENSP00000281437:E235G	E	+	2	0	BARX2	128826371	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.171000	0.31896	-0.552000	0.06167	0.533000	0.62120	GAG		0.577	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		18	367	0	0	0	1	0	18	367					G	129321161	A	G	129321161	3	3	79	1	0	0	0	0	1	0	0	0	1317	304	11	4	718	4	BARX2	11	129321161	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476875	129321161	5685355	12854	23171											
PRDM10	56980	broad.mit.edu	37	chr11	129784704	129784704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtaatccccttgtggCgttcggtagtctgtcgttaa	11	10	2	0	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000360871.3	-	17	2967	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000423662.2_Silent_p.T830T|PRDM10_ENST00000358825.5_Silent_p.T916T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	916	Thr-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)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCCTTGTGGCGTTCGGTAGT	0.557													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2746-2748)acG>acA		PR domain containing 10		C	,,,	8,4394	14.3+/-33.2	0,8,2193	327	287	301		2748,2736,2490,2478	-6.3	0	11	dbSNP_134	301	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,8,6490	TT,TC,CC		0.0,0.1817,0.0616	,,,	916/1161,912/1157,830/1062,826/1024	129784704	8,12988	2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784704C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2736G>A	11.37:g.129784704C>T						PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000360871.3_Silent_p.T912T|PRDM10_ENST00000423662.2_Silent_p.T830T	p.T916T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2979	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	916			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.2748G>A	CCDS8484.1																																																																																				0.557	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		206	1062	0	0	0	1	0	206	1062					T	129784704	C	T	129784704	2	4	79	1	0	0	0	0	0	0	0	1	12498	755	27	1		1	PRDM10	11	129784704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463543	129784704	5221812	12855	23172											
PRDM10	56980	broad.mit.edu	37	chr11	129793151	129793151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtcataccttaaattGcttcccacaggtggaacaca	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	ENST00000360871.3	-	13	2257	c.2026C>T	c.(2026-2028)Caa>Taa	p.Q676*	PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q680*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	680					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)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCTTAAATTGCTTCCCACAG	0.507											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2038-2040)Caa>Taa		PR domain containing 10							92	72	79					11																	129793151		2201	4297	6498	SO:0001587	stop_gained	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129793151G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2026C>T	11.37:g.129793151G>A	ENSP00000354118:p.Gln676*		OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.Q676*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*	p.Q680*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	14	2269	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	680					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	c.2038C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335163	0.98764	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-13.4947	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	680;590;676;594;650;594;393	.	ENSP00000302669:Q590X	Q	-	1	0	PRDM10	129298361	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.247000	0.95444	2.937000	0.99478	0.650000	0.86243	CAA		0.507	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		8	29	0	0	0	1	0	8	29					A	129793151	G	A	129793151	4	1	79	1	0	0	0	0	0	1	0	0	12498	1328	46	2	1480	2	PRDM10	11	129793151	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8447	129793151	5213365	12856	23173											
PRDM10	56980	broad.mit.edu	37	chr11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctcatacatacctgCtaaacacatctagtttctca	2	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000360871.3	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N|PRDM10_ENST00000358825.5_Missense_Mutation_p.S385N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	385					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)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACATACCTGCTAAACACATC	0.418																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1153-1155)aGc>aAc		PR domain containing 10							171	154	160					11																	129804999		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129804999C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1154G>A	11.37:g.129804999C>T	ENSP00000354118:p.Ser385Asn					PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000360871.3_Missense_Mutation_p.S385N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N	p.S385N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	9	1385	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	385					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1154G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665007	0.47572	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.9;2.9;2.9;2.88;2.95;2.88;2.98	5.11	4.17	0.49024	.	0.170685	0.52532	D	0.000073	T	0.12178	0.0296	L	0.27053	0.805	0.40702	D	0.982499	B;B;P;B;B;P;P	0.46784	0.023;0.152;0.884;0.201;0.039;0.73;0.782	B;B;P;B;B;B;B	0.46076	0.012;0.036;0.503;0.024;0.027;0.37;0.24	T	0.04413	-1.0953	10	0.66056	D	0.02	.	15.1785	0.72934	0.0:0.8532:0.1468:0.0	.	299;385;385;385;299;299;299	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	N	385;299;385;299;359;299;102	ENSP00000351686:S385N;ENSP00000302669:S299N;ENSP00000354118:S385N;ENSP00000398431:S299N;ENSP00000431262:S359N;ENSP00000432237:S299N;ENSP00000435940:S102N	ENSP00000302669:S299N	S	-	2	0	PRDM10	129310209	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.494000	0.45329	1.127000	0.42034	0.486000	0.48141	AGC		0.418	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		107	521	0	0	0	1	0	107	521					T	129804999	C	T	129804999	3	4	79	1	0	0	0	0	1	0	0	0	12498	797	28	2	2384	2	PRDM10	11	129804999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11848	129804999	5201517	12857	23174											
APLP2	334	broad.mit.edu	37	chr11	129993589	129993589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctctccaagggaaagtgCgtgcgctttatatatggtgg	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	335	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1003-1005)tgC>tgT		amyloid beta (A4) precursor-like protein 2							129	123	125					11																	129993589		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993589C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1005C>T	11.37:g.129993589C>T						APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Silent_p.C335C	p.C335C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1077	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	335			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1005C>T	CCDS8486.1																																																																																				0.547	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		38	609	0	0	0	1	0	38	609					T	129993589	C	T	129993589	2	4	79	1	0	0	0	0	0	0	0	1	779	776	27	1		1	APLP2	11	129993589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188590	129993589	5012927	12858	23175											
APLP2	334	broad.mit.edu	37	chr11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgtttcaggtcattgacGagactctggatgttaaggaa	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1969-1971)Gag>Aag		amyloid beta (A4) precursor-like protein 2							113	109	111					11																	130011402		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130011402G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1969G>A	11.37:g.130011402G>A	ENSP00000263574:p.Glu657Lys					APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K	p.E657K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	16	2041	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	657					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1969G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205480	0.79127	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94376	-3.37;-3.22;-1.68;-3.41;-1.89;-1.9;-1.88	6.17	6.17	0.99709	.	0.099482	0.64402	D	0.000003	D	0.94571	0.8251	L	0.29908	0.895	0.80722	D	1	D;D;P;P;D;D;P	0.89917	0.998;0.969;0.932;0.803;0.972;1.0;0.789	P;B;B;B;B;D;B	0.79108	0.805;0.225;0.263;0.268;0.31;0.992;0.128	D	0.93070	0.6482	9	.	.	.	-36.2148	19.8676	0.96824	0.0:0.0:1.0:0.0	.	445;657;601;416;583;589;645	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	589;445;657;416;645;655;552	ENSP00000435914:E589K;ENSP00000443728:E445K;ENSP00000263574:E657K;ENSP00000263575:E416K;ENSP00000345444:E645K;ENSP00000278756:E655K;ENSP00000444122:E552K	.	E	+	1	0	APLP2	129516612	1.000000	0.71417	0.980000	0.43619	0.833000	0.47200	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAG		0.502	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		36	190	0	0	0	1	0	36	190					A	130011402	G	A	130011402	3	1	79	1	0	0	0	0	1	0	0	0	779	1059	37	1	2031	1	APLP2	11	130011402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17813	130011402	4995114	12859	23176											
ST14	6768	broad.mit.edu	37	chr11	130067743	130067743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcccgcagcatgcccGgggcagttcacgtgccgcac	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	454	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1360-1362)ccG>ccA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						21	17	18					11																	130067743		2191	4290	6481	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130067743G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1362G>A	11.37:g.130067743G>A							p.P454P	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	12	1780	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	454			LDL-receptor class A 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1362G>A	CCDS8487.1																																																																																				0.706	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	41	0	0	0	1	0	10	41					A	130067743	G	A	130067743	2	1	79	1	0	0	0	0	0	0	0	1	15263	1103	39	1		1	ST14	11	130067743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56341	130067743	4938773	12860	23177											
ST14	6768	broad.mit.edu	37	chr11	130068436	130068436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcaggtgttccaatgGgaagtgcctctcgaaaagcc	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	ENST00000278742.5	+	14	2022	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	535	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGTTCCAATGGGAAGTGCCTC	0.672																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1603-1605)gGg>gTg		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						53	57	56					11																	130068436		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130068436G>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1604G>T	11.37:g.130068436G>T	ENSP00000278742:p.Gly535Val						p.G535V	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	14	2022	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	535			LDL-receptor class A 3.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.1604G>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907464	0.52333	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.49432	0.78	4.73	4.73	0.59995	.	0.000000	0.38959	N	0.001509	T	0.79155	0.4398	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85912	0.1441	10	0.48119	T	0.1	.	17.3042	0.87190	0.0:0.0:1.0:0.0	.	535	Q9Y5Y6	ST14_HUMAN	V	535;437	ENSP00000278742:G535V	ENSP00000278742:G535V	G	+	2	0	ST14	129573646	1.000000	0.71417	0.970000	0.41538	0.169000	0.22640	4.692000	0.61746	2.158000	0.67659	0.462000	0.41574	GGG		0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			9	300	1	0	0.00448238	1	0.00451339	9	300					T	130068436	G	T	130068436	3	4	79	1	0	0	0	0	1	0	0	0	15263	1232	43	3	1658	3	ST14	11	130068436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693	130068436	4938080	12861	23178											
ZBTB44	29068	broad.mit.edu	37	chr11	130108397	130108397	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgaatcgcaccccgcaGgttggacactgaaaaggtct	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000357899.4	-	4	1481	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000530205.1_Silent_p.T403T|ZBTB44_ENST00000525842.1_Silent_p.T403T|ZBTB44_ENST00000397753.1_Silent_p.T403T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCACCCCGCAGGTTGGACACT	0.498																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1207-1209)acC>acA		zinc finger and BTB domain containing 44							80	77	78					11																	130108397		1966	4155	6121	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130108397G>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1209C>A	11.37:g.130108397G>T						ZBTB44_ENST00000357899.4_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T|ZBTB44_ENST00000397753.1_Silent_p.T403T	p.T403T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	4	1576	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	403					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.1209C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233430|1.233430	0.22626|0.22626	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	6.16|6.16	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20974|0.20974	-1.0259|-1.0259	4|4	.|.	.|.	.|.	.|.	2.5208|2.5208	0.04679|0.04679	0.2089:0.271:0.3867:0.1334|0.2089:0.271:0.3867:0.1334	.|.	.|.	.|.	.|.	M|H	382|257	.|.	.|.	L|P	-|-	1|2	2|0	ZBTB44|ZBTB44	129613607|129613607	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.461000|0.461000	0.21940|0.21940	0.083000|0.083000	0.17047|0.17047	0.650000|0.650000	0.86243|0.86243	CTG|CCT		0.498	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		13	57	1	0	0.000151284	1	0.000153739	13	57					T	130108397	G	T	130108397	2	4	79	1	0	0	0	0	0	0	0	1	17598	987	35	3		3	ZBTB44	11	130108397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39961	130108397	4898119	12862	23179											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275525	130275525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttgttgcaggtggcagaGgcctggccggaggggtccct	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	866	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2596-2598)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							52	60	57					11																	130275525		1978	4153	6131	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275525G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2598C>A	11.37:g.130275525G>T							p.A866A	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3304	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	866			TSP type-1 2.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2598C>A	CCDS41732.1																																																																																				0.662	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		111	416	1	0	1.89636e-67	1	2.40225e-67	111	416					T	130275525	G	T	130275525	2	4	79	1	0	0	0	0	0	0	0	1	272	987	35	3		3	ADAMTS8	11	130275525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167128	130275525	4730991	12863	23180											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggggggcattcctccGtgtggcatgactggtacttg	15	10	1	1	rs377662947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	577	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567																																						ENST00000257359.6																			2	Substitution - Missense(2)	p.T577M(1)|p.T606M(1)	pancreas(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1729-1731)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 8		G	MET/THR	1,3979		0,1,1989	76	80	79		1730	4.7	0.9	11		79	0,8294		0,0,4147	no	missense	ADAMTS8	NM_007037.4	81	0,1,6136	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	577/890	130281332	1,12273	1990	4147	6137	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281332G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1730C>T	11.37:g.130281332G>A	ENSP00000257359:p.Thr577Met						p.T577M	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	2436	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	577			TSP type-1 1.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1730C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470947	0.63625	2.51E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.05649	3.41	5.58	4.67	0.58626	.	0.093473	0.64402	D	0.000001	T	0.25901	0.0631	M	0.86097	2.795	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.973	T	0.01879	-1.1255	10	0.66056	D	0.02	.	10.8882	0.46978	0.1444:0.0:0.8556:0.0	.	577;58	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	577;606	ENSP00000257359:T577M	ENSP00000257359:T577M	T	-	2	0	ADAMTS8	129786542	1.000000	0.71417	0.917000	0.36280	0.651000	0.38670	3.050000	0.49877	1.502000	0.48669	0.591000	0.81541	ACG		0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		36	318	0	0	0	1	0	36	318					A	130281332	G	A	130281332	3	1	79	1	0	0	0	0	1	0	0	0	272	1145	40	1	955	1	ADAMTS8	11	130281332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5807	130281332	4725184	12864	23181											
ADAMTS8	11095	broad.mit.edu	37	chr11	130288972	130288972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagcaggatggccgtGtcgtagtgctctgggtggcg	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(934-936)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							94	104	101					11																	130288972		2087	4212	6299	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130288972G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.936C>T	11.37:g.130288972G>A							p.D312D	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1642	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	312			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.936C>T	CCDS41732.1																																																																																				0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		192	772	0	0	0	1	0	192	772					A	130288972	G	A	130288972	2	1	79	1	0	0	0	0	0	0	0	1	272	1368	48	2		2	ADAMTS8	11	130288972	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7640	130288972	4717544	12865	23182											
SNX19	399979	broad.mit.edu	37	chr11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagactcctcaaCagaggcactgagatccaaga	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	969					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACTCCTCAACAGAGGCACTG	0.498																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2905-2907)Gtt>Att		sorting nexin 19							114	100	104					11																	130748391		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130748391C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2905G>A	11.37:g.130748391C>T	ENSP00000265909:p.Val969Ile					SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I	p.V969I	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	11	3474	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	969					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2905G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323966	0.24080	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32753	2.9;1.51;1.51;1.44;1.94;1.94;2.27	5.8	3.82	0.43975	.	0.919810	0.09182	N	0.837227	T	0.21468	0.0517	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18561	0.022;0.016	T	0.33471	-0.9867	10	0.13108	T	0.6	-0.3614	3.2157	0.06697	0.1693:0.4034:0.3277:0.0996	.	412;969	F5H5D1;Q92543	.;SNX19_HUMAN	I	969;209;209;137;349;349;412	ENSP00000265909:V969I;ENSP00000433699:V209I;ENSP00000437982:V209I;ENSP00000413345:V137I;ENSP00000435122:V349I;ENSP00000432307:V349I;ENSP00000443480:V412I	ENSP00000265909:V969I	V	-	1	0	SNX19	130253601	0.000000	0.05858	0.066000	0.19879	0.818000	0.46254	-0.194000	0.09559	1.440000	0.47531	0.655000	0.94253	GTT		0.498	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		20	390	0	0	0	1	0	20	390					T	130748391	C	T	130748391	3	4	79	1	0	0	0	0	1	0	0	0	14940	478	17	2	77	2	SNX19	11	130748391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459419	130748391	4258125	12866	23183											
SNX19	399979	broad.mit.edu	37	chr11	130784879	130784879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctgcagaaccctctGgctcactgtaacttaggaat	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130784879G>A	ENST00000265909.4	-	1	1525	c.956C>T	c.(955-957)cCa>cTa	p.P319L	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	319					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGAACCCTCTGGCTCACTGTA	0.522																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(955-957)cCa>cTa		sorting nexin 19							58	64	62					11																	130784879		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784879G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.956C>T	11.37:g.130784879G>A	ENSP00000265909:p.Pro319Leu					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	p.P319L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1525	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	319					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.956C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581622	0.13686	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.21	3.28	0.37604	.	1.460470	0.04065	N	0.306961	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.26935	0.001;0.164	B;B	0.22601	0.002;0.04	T	0.31081	-0.9956	10	0.15066	T	0.55	-0.3415	6.9849	0.24723	0.0947:0.1756:0.7298:0.0	.	319;319	E9PKB9;Q92543	.;SNX19_HUMAN	L	319	ENSP00000265909:P319L;ENSP00000435390:P319L	ENSP00000265909:P319L	P	-	2	0	SNX19	130290089	0.001000	0.12720	0.001000	0.08648	0.374000	0.29953	0.270000	0.18607	0.560000	0.29169	0.644000	0.83932	CCA		0.522	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		13	485	0	0	0	1	0	13	485					A	130784879	G	A	130784879	3	1	79	1	0	0	0	0	1	0	0	0	14940	1348	47	2	2066	2	SNX19	11	130784879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36488	130784879	4221637	12867	23184											
SNX19	399979	broad.mit.edu	37	chr11	130785193	130785193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcaacaaattcacaacGccacgcgtataggtgacttc	8	11	1	2	rs563508695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	214	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AATTCACAACGCCACGCGTAT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21990	0.0		0.0	False		,,,				2504	0.001					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(640-642)ggC>ggT		sorting nexin 19							42	39	40					11																	130785193		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785193G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.642C>T	11.37:g.130785193G>A						SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	p.G214G	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1211	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	214			PXA.		E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.642C>T	CCDS31721.1																																																																																				0.572	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		42	183	0	0	0	1	0	42	183					A	130785193	G	A	130785193	2	1	79	1	0	0	0	0	0	0	0	1	14940	1074	38	1		1	SNX19	11	130785193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	130785193	4221323	12868	23185											
NTM	50863	broad.mit.edu	37	chr11	131781469	131781469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccacaggagtgcccgtgCgcagcggagatgccaccttc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	ENST00000374786.1	+	1	573	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	32					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGCCCGTGCGCAGCGGAGA	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(94-96)Cgc>Tgc		neurotrimin							87	82	84					11																	131781469		2200	4275	6475	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:131781469C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.94C>T	11.37:g.131781469C>T	ENSP00000363918:p.Arg32Cys		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C	p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			1	573	+			32					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.94C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695433	0.88830	.	.	ENSG00000182667	ENST00000374791;ENST00000436745;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.60672	0.18;0.18;0.19;0.17;0.23;0.2;0.18	5.28	5.28	0.74379	.	0.069171	0.53938	D	0.000044	T	0.70842	0.3270	M	0.71581	2.175	0.58432	D	0.999996	D;P;D;B;D;D	0.69078	0.98;0.918;0.997;0.078;0.98;0.98	P;P;P;B;P;P	0.54924	0.462;0.462;0.761;0.038;0.764;0.764	T	0.74278	-0.3717	10	0.59425	D	0.04	-13.7454	18.896	0.92423	0.0:1.0:0.0:0.0	.	32;23;32;32;32;32	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	32;23;32;23;23;32;32;32	ENSP00000363923:R32C;ENSP00000437668:R32C;ENSP00000448104:R23C;ENSP00000416320:R23C;ENSP00000363918:R32C;ENSP00000396722:R32C;ENSP00000363916:R32C	ENSP00000363916:R32C	R	+	1	0	NTM	131286679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.787000	0.47798	2.479000	0.83701	0.561000	0.74099	CGC		0.617	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		22	491	0	0	0	1	0	22	491					T	131781469	C	T	131781469	3	4	79	1	0	0	0	0	1	0	0	0	10741	768	27	1	182	1	NTM	11	131781469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996276	131781469	3225047	12869	23186											
NTM	50863	broad.mit.edu	37	chr11	132016258	132016258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaatgacaagtggtgcCtggatcctcgcgtggtcctt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132016258C>A	ENST00000374786.1	+	2	729	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAAGTGGTGCCTGGATCCTCG	0.572																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(250-252)Ctg>Atg		neurotrimin							181	132	149					11																	132016258		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016258C>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.250C>A	11.37:g.132016258C>A	ENSP00000363918:p.Leu84Met					NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M	p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	729	+			84			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.250C>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850630	0.71719	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075430	0.56097	D	0.000033	T	0.45377	0.1339	L	0.55213	1.73	0.51767	D	0.999936	D;P;P;P;P;P	0.56968	0.978;0.956;0.599;0.915;0.823;0.752	D;D;P;D;P;P	0.67382	0.951;0.913;0.8;0.913;0.805;0.8	T	0.31420	-0.9944	10	0.42905	T	0.14	-12.2888	8.5217	0.33279	0.1541:0.7641:0.0:0.0818	.	84;75;84;84;84;84	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	84;84;75;75;84;84;84	ENSP00000363923:L84M;ENSP00000437668:L84M;ENSP00000448104:L75M;ENSP00000416320:L75M;ENSP00000363918:L84M;ENSP00000396722:L84M;ENSP00000363916:L84M	ENSP00000363916:L84M	L	+	1	2	NTM	131521468	0.257000	0.24022	1.000000	0.80357	0.999000	0.98932	0.348000	0.20031	2.691000	0.91804	0.655000	0.94253	CTG		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	352	1	0	8.12818e-05	1	8.2724e-05	7	352					A	132016258	C	A	132016258	3	1	79	1	0	0	0	0	1	0	0	0	10741	680	24	3	342	3	NTM	11	132016258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234789	132016258	2990258	12870	23187											
NTM	50863	broad.mit.edu	37	chr11	132082001	132082001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatagcaactggtagAccagagcctacggttacttg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	162	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAACTGGTAGACCAGAGCCTA	0.423																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(484-486)agA>agG		neurotrimin							141	139	140					11																	132082001		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082001A>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.486A>G	11.37:g.132082001A>G						NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000374784.1_Silent_p.R162R	p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	965	+			162			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.486A>G	CCDS8491.1																																																																																				0.423	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		8	337	0	0	0	1	0	8	337					G	132082001	A	G	132082001	2	3	79	1	0	0	0	0	0	0	0	1	10741	272	10	4		4	NTM	11	132082001	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65743	132082001	2924515	12871	23188											
NTM	50863	broad.mit.edu	37	chr11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcagtcaggggactacGagtgcagtgcctccaatgac	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	200	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(598-600)Gag>Aag		neurotrimin							96	84	88					11																	132177654		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177654G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.598G>A	11.37:g.132177654G>A	ENSP00000363918:p.Glu200Lys					NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K	p.E200K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1077	+			200			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.598G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.109459	0.97291	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67345	1.68;1.68;-0.26;1.68;1.68;1.68;1.68	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042817	0.85682	D	0.000000	T	0.80793	0.4691	M	0.66378	2.025	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	0.91635	0.987;0.999;0.993;0.999;0.987;0.995	T	0.74200	-0.3742	10	0.22109	T	0.4	-30.012	20.3754	0.98918	0.0:0.0:1.0:0.0	.	200;191;200;200;200;200	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	200;200;191;191;200;200;200	ENSP00000363923:E200K;ENSP00000437668:E200K;ENSP00000448104:E191K;ENSP00000416320:E191K;ENSP00000363918:E200K;ENSP00000396722:E200K;ENSP00000363916:E200K	ENSP00000363916:E200K	E	+	1	0	NTM	131682864	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	9.420000	0.97426	2.894000	0.99253	0.591000	0.81541	GAG		0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		52	218	0	0	0	1	0	52	218					A	132177654	G	A	132177654	3	1	79	1	0	0	0	0	1	0	0	0	10741	1059	37	1	698	1	NTM	11	132177654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95653	132177654	2828862	12872	23189											
OPCML	4978	broad.mit.edu	37	chr11	132812820	132812820	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggaaggacagctccctaCctgagggtggcgctctcccc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCTCCCTACCTGAGGGTGG	0.682																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.e1+1		opioid binding protein/cell adhesion molecule-like							66	67	66					11																	132812820		2201	4297	6498	SO:0001630	splice_region_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812820C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.167+1G>A	11.37:g.132812820C>T						OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron		NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	746	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)						B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Splice_Site	SNP	ENST00000331898.7	37		CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659011	0.88154	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPCML	132318030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	.		0.682	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	Intron	64	388	0	0	0	1	0	64	388					T	132812820	C	T	132812820	5	4	79	1	0	0	0	0	0	0	1	0	10916	521	18	2	897	2	OPCML	11	132812820	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635166	132812820	2193696	12873	23190											
OPCML	4978	broad.mit.edu	37	chr11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgccggaccgtcacgTtgtccatagctttggggaag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACCGTCACGTTGTCCATAGC	0.662																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(130-132)aAc>aGc		opioid binding protein/cell adhesion molecule-like							63	68	66					11																	132812857		2201	4295	6496	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812857T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.131A>G	11.37:g.132812857T>C	ENSP00000330862:p.Asn44Ser					OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	p.N44S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	709	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	44			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.131A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887404	0.72410	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.37785	0.1016	L	0.54863	1.705	0.50632	D	0.999888	P;B;B;P	0.35656	0.514;0.267;0.267;0.502	P;P;P;P	0.46275	0.491;0.491;0.491;0.51	T	0.12682	-1.0538	10	0.49607	T	0.09	-20.4728	15.7888	0.78332	0.0:0.0:0.0:1.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	44;37;3;37;44	ENSP00000330862:N44S;ENSP00000434750:N37S;ENSP00000363910:N3S;ENSP00000445496:N44S	ENSP00000330862:N44S	N	-	2	0	OPCML	132318067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.140000	0.66376	0.533000	0.62120	AAC		0.662	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		83	435	0	0	0	1	0	83	435					C	132812857	T	C	132812857	3	2	79	1	0	0	0	0	1	0	0	0	10916	1725	60	4	934	4	OPCML	11	132812857	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	132812857	2193659	12874	23191											
IGSF9B	22997	broad.mit.edu	37	chr11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccaaatgtgctggggcCgccgtgcgcccccggctcag	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000321016.8	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1160	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3478-3480)Ggc>Agc		immunoglobulin superfamily, member 9B							31	35	33					11																	133790142		1911	4108	6019	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790142C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3478G>A	11.37:g.133790142C>T	ENSP00000317980:p.Gly1160Ser					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S	p.G1160S			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3708	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1160			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3478G>A		.	.	.	.	.	.	.	.	.	.	C	12.56	1.975668	0.34848	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.63417	0.3;-0.04	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.40862	0.1134	N	0.04508	-0.205	0.44323	D	0.997206	B	0.28082	0.2	B	0.20184	0.028	T	0.32348	-0.9910	10	0.28530	T	0.3	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1160	Q9UPX0	TUTLB_HUMAN	S	1160;1002	ENSP00000317980:G1160S;ENSP00000436552:G1002S	ENSP00000317980:G1160S	G	-	1	0	IGSF9B	133295352	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.422000	0.59854	2.358000	0.79984	0.455000	0.32223	GGC		0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		87	370	0	0	0	1	0	87	370					T	133790142	C	T	133790142	3	4	79	1	0	0	0	0	1	0	0	0	7636	652	23	1	579	1	IGSF9B	11	133790142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977285	133790142	1216374	12875	23192											
IGSF9B	22997	broad.mit.edu	37	chr11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaagggcagcgtgcTgttggatgcattctctccat	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000321016.8	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1023	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3067-3069)Agc>Cgc		immunoglobulin superfamily, member 9B							61	70	67					11																	133790553		2083	4219	6302	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790553T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3067A>C	11.37:g.133790553T>G	ENSP00000317980:p.Ser1023Arg					IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R	p.S1023R			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3297	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1023			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3067A>C		.	.	.	.	.	.	.	.	.	.	t	12.19	1.863010	0.32884	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000060	T	0.63534	0.2519	N	0.14661	0.345	0.35023	D	0.758053	D	0.65815	0.995	D	0.70487	0.969	T	0.72798	-0.4184	10	0.40728	T	0.16	.	14.2931	0.66292	0.0:0.0:0.0:1.0	.	1023	Q9UPX0	TUTLB_HUMAN	R	1023;865	ENSP00000317980:S1023R;ENSP00000436552:S865R	ENSP00000317980:S1023R	S	-	1	0	IGSF9B	133295763	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.600000	0.82769	1.855000	0.53841	0.449000	0.29647	AGC		0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		101	411	0	0	0	1	0	101	411					G	133790553	T	G	133790553	3	3	79	1	0	0	0	0	1	0	0	0	7636	1580	55	4	990	4	IGSF9B	11	133790553	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	411	133790553	1215963	12876	23193											
IGSF9B	22997	broad.mit.edu	37	chr11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtggccaaagggcccctCggtgggcaggggcggggacg	23	10	0	0	rs371141922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000321016.8	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3010-3012)Gag>Aag		immunoglobulin superfamily, member 9B			LYS/GLU	0,4100		0,0,2050	35	40	38		3010	4.9	0.9	11		38	1,8361		0,1,4180	no	missense	IGSF9B	NM_014987.1	56	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1004/1350	133790610	1,12461	2050	4181	6231	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790610C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3010G>A	11.37:g.133790610C>T	ENSP00000317980:p.Glu1004Lys					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K	p.E1004K			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3240	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1004			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3010G>A		.	.	.	.	.	.	.	.	.	.	c	25.2	4.611619	0.87258	0.0	1.2E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.74526	-0.55;-0.85	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000395	T	0.65396	0.2687	L	0.27053	0.805	0.42717	D	0.993663	D	0.56968	0.978	B	0.41894	0.369	T	0.72360	-0.4317	10	0.59425	D	0.04	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	1004	Q9UPX0	TUTLB_HUMAN	K	1004;846	ENSP00000317980:E1004K;ENSP00000436552:E846K	ENSP00000317980:E1004K	E	-	1	0	IGSF9B	133295820	1.000000	0.71417	0.930000	0.37139	0.951000	0.60555	7.350000	0.79385	2.286000	0.76751	0.550000	0.68814	GAG		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		59	267	0	0	0	1	0	59	267					T	133790610	C	T	133790610	3	4	79	1	0	0	0	0	1	0	0	0	7636	893	31	1	1047	1	IGSF9B	11	133790610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	133790610	1215906	12877	23194											
IGSF9B	22997	broad.mit.edu	37	chr11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccctccagcccgcggggCtggaaccgagggctgtatgc	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000321016.8	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	933	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2797-2799)caG>caT		immunoglobulin superfamily, member 9B							31	38	36					11																	133790821		1970	4131	6101	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790821C>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2799G>T	11.37:g.133790821C>A	ENSP00000317980:p.Gln933His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H	p.Q933H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3029	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	933			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2799G>T		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348126	0.24426	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	4.44	3.52	0.40303	.	0.000000	0.42420	D	0.000714	T	0.40322	0.1112	N	0.17082	0.46	0.36966	D	0.893595	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.27785	T	0.31	.	6.611	0.22751	0.0:0.7898:0.0:0.2102	.	933	Q9UPX0	TUTLB_HUMAN	H	933;775	ENSP00000317980:Q933H;ENSP00000436552:Q775H	ENSP00000317980:Q933H	Q	-	3	2	IGSF9B	133296031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.509000	0.53386	1.081000	0.41110	0.561000	0.74099	CAG		0.697	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		78	271	1	0	1.24833e-42	1	1.5209e-42	78	271					A	133790821	C	A	133790821	3	1	79	1	0	0	0	0	1	0	0	0	7636	796	28	3	1258	3	IGSF9B	11	133790821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	133790821	1215695	12878	23195											
IGSF9B	22997	broad.mit.edu	37	chr11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggtcgtcggaggaTtctgacggcgctcggagcgt	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000321016.8	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	795					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2383-2385)gaA>gaC		immunoglobulin superfamily, member 9B							23	23	23					11																	133791235		2053	4193	6246	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133791235T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2385A>C	11.37:g.133791235T>G	ENSP00000317980:p.Glu795Asp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D	p.E795D			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2615	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	795					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2385A>C		.	.	.	.	.	.	.	.	.	.	T	8.165	0.790320	0.16258	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.47	-0.231	0.13086	.	0.000000	0.44902	D	0.000401	T	0.47637	0.1456	L	0.36672	1.1	0.30701	N	0.750329	D	0.56521	0.976	P	0.45232	0.474	T	0.54118	-0.8341	10	0.21540	T	0.41	.	9.1134	0.36741	0.0:0.54:0.0:0.46	.	795	Q9UPX0	TUTLB_HUMAN	D	795;637	ENSP00000317980:E795D;ENSP00000436552:E637D	ENSP00000317980:E795D	E	-	3	2	IGSF9B	133296445	0.984000	0.35163	0.976000	0.42696	0.158000	0.22134	0.228000	0.17814	0.131000	0.18576	-0.337000	0.08149	GAA		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		40	126	0	0	0	1	0	40	126					G	133791235	T	G	133791235	3	3	79	1	0	0	0	0	1	0	0	0	7636	1490	52	4	1672	4	IGSF9B	11	133791235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	414	133791235	1215281	12879	23196											
IGSF9B	22997	broad.mit.edu	37	chr11	133795814	133795814	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgattggctatgaggcacctCggtggggtgaccagcaccag	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000321016.8	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000533871.2_Silent_p.P618P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	618	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1852-1854)ccG>ccA		immunoglobulin superfamily, member 9B							36	41	39					11																	133795814		2047	4203	6250	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133795814C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1854G>A	11.37:g.133795814C>T						IGSF9B_ENST00000533871.2_Silent_p.P618P	p.P618P			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	14	2084	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	618			Fibronectin type-III 2.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.1854G>A																																																																																					0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		13	79	0	0	0	1	0	13	79					T	133795814	C	T	133795814	2	4	79	1	0	0	0	0	0	0	0	1	7636	871	31	1		1	IGSF9B	11	133795814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4579	133795814	1210702	12880	23197											
IGSF9B	22997	broad.mit.edu	37	chr11	133801989	133801989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacctgcaggggacggcCgtccttgttccacttgacca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133801989C>T	ENST00000321016.8	-	8	1317	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	363	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGGGACGGCCGTCCTTGTTC	0.607																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1087-1089)Ggc>Agc		immunoglobulin superfamily, member 9B							69	86	80					11																	133801989		2138	4228	6366	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133801989C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1087G>A	11.37:g.133801989C>T	ENSP00000317980:p.Gly363Ser					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S	p.G363S			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	8	1317	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	363			Ig-like 4.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.279030	0.95489	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	D;D;D	0.81821	-1.54;-1.54;-1.54	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91064	0.7188	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92249	0.5807	9	0.62326	D	0.03	.	18.2442	0.89979	0.0:1.0:0.0:0.0	.	363	Q9UPX0	TUTLB_HUMAN	S	363;205;363	ENSP00000317980:G363S;ENSP00000436552:G205S;ENSP00000436576:G363S	ENSP00000317980:G363S	G	-	1	0	IGSF9B	133307199	1.000000	0.71417	0.985000	0.45067	0.654000	0.38779	7.648000	0.83479	2.535000	0.85469	0.556000	0.70494	GGC		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	163	0	0	0	1	0	5	163					T	133801989	C	T	133801989	3	4	79	1	0	0	0	0	1	0	0	0	7636	652	23	1	3010	1	IGSF9B	11	133801989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6175	133801989	1204527	12881	23198											
IGSF9B	22997	broad.mit.edu	37	chr11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccctggtcctcagagCgaacttgttccagccgcaga	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000321016.8	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCAGAGCGAACTTGTTC	0.562																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(310-312)cGc>cAc		immunoglobulin superfamily, member 9B							84	89	87					11																	133814213		2054	4213	6267	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133814213C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.311G>A	11.37:g.133814213C>T	ENSP00000317980:p.Arg104His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H	p.R104H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	3	541	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	104			Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.311G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.131947	0.94473	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.83008	0.5161	M	0.79258	2.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.73380	0.98	D	0.84370	0.0543	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	104	Q9UPX0	TUTLB_HUMAN	H	104;104;94;151	ENSP00000317980:R104H;ENSP00000436576:R104H;ENSP00000434026:R94H;ENSP00000435989:R151H	ENSP00000317980:R104H	R	-	2	0	IGSF9B	133319423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.819000	0.62664	2.688000	0.91661	0.563000	0.77884	CGC		0.562	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		24	146	0	0	0	1	0	24	146					T	133814213	C	T	133814213	3	4	79	1	0	0	0	0	1	0	0	0	7636	768	27	1	3806	1	IGSF9B	11	133814213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12224	133814213	1192303	12882	23199											
IGSF9B	22997	broad.mit.edu	37	chr11	133815997	133815997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggtagtagccaaacTtgatgaagatagggatgggg	18	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	ENST00000321016.8	-	2	451	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	74	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTAGCCAAACTTGATGAAGAT	0.617																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(220-222)aAg>aCg		immunoglobulin superfamily, member 9B							53	64	61					11																	133815997		2106	4210	6316	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133815997T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.221A>C	11.37:g.133815997T>G	ENSP00000317980:p.Lys74Thr					IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T	p.K74T			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	2	451	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	74			Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.221A>C		.	.	.	.	.	.	.	.	.	.	T	28.1	4.886483	0.91814	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073665	0.51477	D	0.000096	T	0.65133	0.2662	L	0.28458	0.855	0.42028	D	0.991012	P	0.43662	0.814	P	0.55508	0.777	T	0.62506	-0.6840	10	0.28530	T	0.3	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	74	Q9UPX0	TUTLB_HUMAN	T	74;74;64;121	ENSP00000317980:K74T;ENSP00000436576:K74T;ENSP00000434026:K64T;ENSP00000435989:K121T	ENSP00000317980:K74T	K	-	2	0	IGSF9B	133321207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.938000	0.87678	2.175000	0.68902	0.533000	0.62120	AAG		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	64	0	0	0	1	0	7	64					G	133815997	T	G	133815997	3	3	79	1	0	0	0	0	1	0	0	0	7636	1609	56	4	3900	4	IGSF9B	11	133815997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1784	133815997	1190519	12883	23200											
NCAPD3	23310	broad.mit.edu	37	chr11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttgccaaggccatgtcAtcttcttccataaggaggtc	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3514-3516)gaT>gaG		non-SMC condensin II complex, subunit D3							254	215	228					11																	134037948		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134037948A>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3516T>G	11.37:g.134037948A>C	ENSP00000433681:p.Asp1172Glu						p.D1172E	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	3580	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1172					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3516T>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.197632	0.38806	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-2.34	0.06704	Armadillo-type fold (1);	0.284386	0.43260	N	0.000584	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	B;B	0.21688	0.032;0.059	B;B	0.19666	0.026;0.017	T	0.08576	-1.0715	10	0.15952	T	0.53	-12.4742	6.7877	0.23682	0.5433:0.1244:0.3322:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	E	1172;77;208	ENSP00000433681:D1172E;ENSP00000432532:D77E;ENSP00000435173:D208E	ENSP00000432532:D77E	D	-	3	2	NCAPD3	133543158	0.988000	0.35896	0.856000	0.33681	0.856000	0.48823	0.370000	0.20433	-0.722000	0.04922	0.473000	0.43528	GAT		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		117	548	0	0	0	1	0	117	548					C	134037948	A	C	134037948	3	2	79	1	0	0	0	0	1	0	0	0	10248	214	8	4	1016	4	NCAPD3	11	134037948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	221951	134037948	968568	12884	23201											
NCAPD3	23310	broad.mit.edu	37	chr11	134055268	134055268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtattattctgctgtaGtccagcctgggtgaggagcc	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	733					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2197-2199)gaC>gaT		non-SMC condensin II complex, subunit D3							64	61	62					11																	134055268		2201	4296	6497	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134055268G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2199C>T	11.37:g.134055268G>A						RP11-700F16.3_ENST00000531710.1_RNA	p.D733D	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	17	2263	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	733					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2199C>T	CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		42	132	0	0	0	1	0	42	132					A	134055268	G	A	134055268	2	1	79	1	0	0	0	0	0	0	0	1	10248	1020	36	2		2	NCAPD3	11	134055268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17320	134055268	951248	12885	23202											
NCAPD3	23310	broad.mit.edu	37	chr11	134073691	134073691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatttcctgcaccaggaaCttatgctttaagaacttctg	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	442					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1324-1326)aaG>aaA		non-SMC condensin II complex, subunit D3							85	87	87					11																	134073691		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073691C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1326G>A	11.37:g.134073691C>T							p.K442K	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	11	1390	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	442					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1326G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		89	362	0	0	0	1	0	89	362					T	134073691	C	T	134073691	2	4	79	1	0	0	0	0	0	0	0	1	10248	564	20	2		2	NCAPD3	11	134073691	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18423	134073691	932825	12886	23203											
NCAPD3	23310	broad.mit.edu	37	chr11	134074865	134074865	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaattcatccacaagggCgctttgtaaaagaaaaacac	6	9	1	1	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	340					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e9-1		non-SMC condensin II complex, subunit D3							119	119	119					11																	134074865		2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134074865C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1017-1G>A	11.37:g.134074865C>T							p.A340_splice	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	9	1082	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	340					A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	c.1016_splice	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329475	0.24167	.	.	ENSG00000151503	ENST00000534548	T	0.04706	3.57	5.54	3.17	0.36434	Armadillo-type fold (1);	0.659510	0.16079	N	0.230607	T	0.03011	0.0089	N	0.08118	0	0.31644	N	0.647619	B	0.19445	0.036	B	0.11329	0.006	T	0.29640	-1.0005	10	0.22706	T	0.39	-1.2962	12.446	0.55651	0.7319:0.268:0.0:0.0	.	340	P42695	CNDD3_HUMAN	T	340	ENSP00000433681:A340T	ENSP00000431612:A340T	A	-	1	0	NCAPD3	133580075	0.978000	0.34361	0.053000	0.19242	0.026000	0.11368	2.460000	0.45031	0.366000	0.24427	-0.364000	0.07487	GCC		0.383	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Missense_Mutation	56	304	0	0	0	1	0	56	304					T	134074865	C	T	134074865	5	4	79	1	0	0	0	0	0	0	1	0	10248	782	27	1	3586	1	NCAPD3	11	134074865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1174	134074865	931651	12887	23204											
NCAPD3	23310	broad.mit.edu	37	chr11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgataaactggaccGcctggtttctacagttgatg	9	10	2	2	rs544195866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	334					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1000-1002)gCg>gTg		non-SMC condensin II complex, subunit D3							138	125	130					11																	134076509		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134076509G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1001C>T	11.37:g.134076509G>A	ENSP00000433681:p.Ala334Val						p.A334V	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	8	1065	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	334					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1001C>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704144	0.88924	.	.	ENSG00000151503	ENST00000534548	T	0.09163	3.01	5.67	5.67	0.87782	Armadillo-type fold (1);	0.098779	0.64402	D	0.000001	T	0.34571	0.0902	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00569	-1.1666	10	0.48119	T	0.1	-20.4282	20.1313	0.98000	0.0:0.0:1.0:0.0	.	334	P42695	CNDD3_HUMAN	V	334	ENSP00000433681:A334V	ENSP00000431612:A334V	A	-	2	0	NCAPD3	133581719	0.999000	0.42202	0.721000	0.30653	0.749000	0.42624	5.099000	0.64554	2.837000	0.97791	0.655000	0.94253	GCG		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		96	404	0	0	0	1	0	96	404					A	134076509	G	A	134076509	3	1	79	1	0	0	0	0	1	0	0	0	10248	1087	38	1	3607	1	NCAPD3	11	134076509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1644	134076509	930007	12888	23205											
NCAPD3	23310	broad.mit.edu	37	chr11	134079098	134079098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattagttaatgaaacaaaGacctagaaaacagatatgaa	6	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	245					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(733-735)gtC>gtT		non-SMC condensin II complex, subunit D3							116	130	125					11																	134079098		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134079098G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.735C>T	11.37:g.134079098G>A							p.V245V	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	6	799	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	245					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.735C>T	CCDS31723.1																																																																																				0.358	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		145	652	0	0	0	1	0	145	652					A	134079098	G	A	134079098	2	1	79	1	0	0	0	0	0	0	0	1	10248	929	33	2		2	NCAPD3	11	134079098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	134079098	927418	12889	23206											
VPS26B	112936	broad.mit.edu	37	chr11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtagttcacacactcagCacatacccagagctgaactc	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(457-459)agC>agA		vacuolar protein sorting 26 homolog B (S. pombe)							190	159	170					11																	134109963		2201	4297	6498	SO:0001583	missense	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134109963C>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>A	11.37:g.134109963C>A	ENSP00000281187:p.Ser153Arg					VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	3	937	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	153					Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	c.459C>A	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494802	0.44352	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.60012	1.86	0.80722	D	1	P	0.51449	0.945	P	0.57548	0.823	T	0.03597	-1.1021	10	0.17832	T	0.49	-4.0493	19.3065	0.94164	0.0:1.0:0.0:0.0	.	153	Q4G0F5	VP26B_HUMAN	R	153;152	ENSP00000281187:S153R	ENSP00000281187:S153R	S	+	3	2	VPS26B	133615173	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.031000	0.57267	2.570000	0.86706	0.650000	0.86243	AGC		0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		67	321	1	0	5.10652e-33	1	6.04401e-33	67	321					A	134109963	C	A	134109963	3	1	79	1	0	0	0	0	1	0	0	0	17252	709	25	3	469	3	VPS26B	11	134109963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30865	134109963	896553	12890	23207											
VPS26B	112936	broad.mit.edu	37	chr11	134113076	134113076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagaatcaaaatcaaGcacatggagatagacatcat	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	203					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(607-609)aaG>aaA		vacuolar protein sorting 26 homolog B (S. pombe)							146	124	132					11																	134113076		2201	4297	6498	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134113076G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.609G>A	11.37:g.134113076G>A						VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	4	1087	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	203					Q96A55	Silent	SNP	ENST00000281187.5	37	c.609G>A	CCDS8495.1																																																																																				0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		51	304	0	0	0	1	0	51	304					A	134113076	G	A	134113076	2	1	79	1	0	0	0	0	0	0	0	1	17252	962	34	2		2	VPS26B	11	134113076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3113	134113076	893440	12891	23208											
VPS26B	112936	broad.mit.edu	37	chr11	134115478	134115478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgacaacaactgcagGcagtaggcccccagggccga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	ENST00000281187.5	+	6	1483	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	VPS26B_ENST00000525095.2_Silent_p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	335					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACAACTGCAGGCAGTAGGCCC	0.682																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(1003-1005)agG>agA		vacuolar protein sorting 26 homolog B (S. pombe)							27	25	26					11																	134115478		2201	4296	6497	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134115478G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.1005G>A	11.37:g.134115478G>A						VPS26B_ENST00000525095.2_Silent_p.R335R	p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	6	1483	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	335					Q96A55	Silent	SNP	ENST00000281187.5	37	c.1005G>A	CCDS8495.1																																																																																				0.682	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		15	105	0	0	0	1	0	15	105					A	134115478	G	A	134115478	2	1	79	1	0	0	0	0	0	0	0	1	17252	1194	42	2		2	VPS26B	11	134115478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2402	134115478	891038	12892	23209											
ACAD8	27034	broad.mit.edu	37	chr11	134123498	134123498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagctgcggcggctatgCtgtggagcggctgccggcgt	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	ACAD8_ENST00000537423.1_5'UTR|THYN1_ENST00000392594.3_5'Flank|THYN1_ENST00000341541.3_5'Flank|ACAD8_ENST00000374752.4_Silent_p.L2L|THYN1_ENST00000392595.2_5'Flank|THYN1_ENST00000352327.5_5'Flank|ACAD8_ENST00000543332.1_5'UTR|THYN1_ENST00000525677.1_5'Flank	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	2					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GGCGGCTATGCTGTGGAGCGG	0.706																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(4-6)Ctg>Ttg		acyl-CoA dehydrogenase family, member 8							5	7	6					11																	134123498		1995	3919	5914	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134123498C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.4C>T	11.37:g.134123498C>T						ACAD8_ENST00000537423.1_5'UTR|ACAD8_ENST00000543332.1_5'UTR|ACAD8_ENST00000374752.4_Silent_p.L2L	p.L2L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	1	110	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	2					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.4C>T	CCDS8498.1																																																																																				0.706	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		8	34	0	0	0	1	0	8	34					T	134123498	C	T	134123498	2	4	79	1	0	0	0	0	0	0	0	1	110	796	28	2		2	ACAD8	11	134123498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8020	134123498	883018	12893	23210											
GLB1L3	112937	broad.mit.edu	37	chr11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataactcttccctggaggGctttaccatctattccctgg	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCCTGGAGGGCTTTACCATC	0.483																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1621-1623)gGc>gAc		galactosidase, beta 1-like 3							83	79	80					11																	134183877		1900	4123	6023	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183877G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1622G>A	11.37:g.134183877G>A	ENSP00000396615:p.Gly541Asp						p.G541D	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	17	1622	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	541					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1622G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	1.367	-0.587026	0.03827	.	.	ENSG00000166105	ENST00000431683	D	0.95069	-3.6	4.78	-5.28	0.02755	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.87892	0.6292	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78091	-0.2339	10	0.11485	T	0.65	.	9.6803	0.40065	0.7087:0.1231:0.1682:0.0	.	541	Q8NCI6	GLBL3_HUMAN	D	541	ENSP00000396615:G541D	ENSP00000396615:G541D	G	+	2	0	GLB1L3	133689087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.990000	0.03481	-0.471000	0.05019	GGC		0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		16	86	0	0	0	1	0	16	86					A	134183877	G	A	134183877	3	1	79	1	0	0	0	0	1	0	0	0	6459	1203	42	2	1688	2	GLB1L3	11	134183877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60379	134183877	822639	12894	23211											
GLB1L2	89944	broad.mit.edu	37	chr11	134238539	134238539	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctccctcctccggcagaGgttttgaaaaccgtgtctgc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	297					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			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)		CTCCGGCAGAGGTTTTGAAAA	0.542																																						ENST00000535456.2																			0				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						c.e10-1		galactosidase, beta 1-like 2							72	72	72					11																	134238539		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134238539G>T		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.890-1G>T	11.37:g.134238539G>T						GLB1L2_ENST00000389881.3_Splice_Site_p.E297_splice|GLB1L2_ENST00000339772.7_Splice_Site_p.E297_splice|GLB1L2_ENST00000529077.1_3'UTR	p.E297_splice	NM_138342.3	NP_612351.2	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)	10	1079	+	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)	297					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	37	c.889_splice	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.302|3.302	-0.142586|-0.142586	0.06669|0.06669	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.97752|.	-4.52;-4.52;-4.52|.	5.19|5.19	0.61|0.61	0.17580|0.17580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.220925|.	0.46442|.	D|.	0.000296|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.05351|0.05351	-0.065|-0.065	0.32055|0.32055	N|N	0.596416|0.596416	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.17832|.	T|.	0.49|.	.|.	5.6384|5.6384	0.17550|0.17550	0.2586:0.0:0.5583:0.1832|0.2586:0.0:0.5583:0.1832	.|.	297|.	Q8IW92|.	GLBL2_HUMAN|.	D|C	297|236;125	ENSP00000344659:E297D;ENSP00000444628:E297D;ENSP00000374531:E297D|.	ENSP00000344659:E297D|.	E|G	+|+	3|1	2|0	GLB1L2|GLB1L2	133743749|133743749	0.304000|0.304000	0.24472|0.24472	0.910000|0.910000	0.35882|0.35882	0.196000|0.196000	0.23810|0.23810	-0.606000|-0.606000	0.05654|0.05654	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAG|GGT		0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Missense_Mutation	34	406	1	0	4.4194e-11	1	4.70867e-11	34	406					T	134238539	G	T	134238539	5	4	79	1	0	0	0	0	0	0	1	0	6458	1014	35	3	929	3	GLB1L2	11	134238539	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54662	134238539	767977	12895	23212											
GLB1L2	89944	broad.mit.edu	37	chr11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttgtattcatcaatgGccagaaccttggacgttact	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			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)		TTCATCAATGGCCAGAACCTT	0.547																																						ENST00000535456.2																			0				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						c.(1738-1740)gGc>gAc		galactosidase, beta 1-like 2							148	148	148					11																	134244527		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244527G>A		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.1739G>A	11.37:g.134244527G>A	ENSP00000444628:p.Gly580Asp					GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR	p.G580D	NM_138342.3	NP_612351.2	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)	18	1927	+	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)	580					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1739G>A	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040103|4.040103	0.75732|0.75732	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.99507|.	-6.04;-6.04;-6.04|.	5.61|5.61	3.72|3.72	0.42706|0.42706	Galactose-binding domain-like (1);|.	0.164458|.	0.53938|.	N|.	0.000051|.	T|.	0.75064|.	0.3799|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.52842|.	0.956|.	P|.	0.56474|.	0.799|.	T|.	0.75648|.	-0.3245|.	10|.	0.66056|.	D|.	0.02|.	-6.4414|-6.4414	12.2901|12.2901	0.54812|0.54812	0.141:0.0:0.859:0.0|0.141:0.0:0.859:0.0	.|.	580|.	Q8IW92|.	GLBL2_HUMAN|.	D|X	580|518	ENSP00000344659:G580D;ENSP00000444628:G580D;ENSP00000374531:G580D|.	ENSP00000344659:G580D|.	G|W	+|+	2|3	0|0	GLB1L2|GLB1L2	133749737|133749737	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.995000|0.995000	0.86356|0.86356	4.583000|4.583000	0.60964|0.60964	0.705000|0.705000	0.31890|0.31890	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		111	574	0	0	0	1	0	111	574					A	134244527	G	A	134244527	3	1	79	1	0	0	0	0	1	0	0	0	6458	1203	42	2	1809	2	GLB1L2	11	134244527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5988	134244527	761989	12896	23213											
B3GAT1	27087	broad.mit.edu	37	chr11	134257523	134257523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcagcacgatgaggaCgatcgctaggatgtcccgtc	14	12	0	1	rs144109297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134257523C>T	ENST00000524765.1	-	2	4575	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.V11I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627																																						ENST00000524765.1																			1	Substitution - Missense(1)	p.V11I(1)	ovary(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(31-33)Gtc>Atc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)		C	ILE/VAL,ILE/VAL	0,4402		0,0,2201	151	106	122		31,31	1.4	0.9	11	dbSNP_134	122	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	29,29	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	11/335,11/335	134257523	2,12994	2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134257523C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.31G>A	11.37:g.134257523C>T	ENSP00000433847:p.Val11Ile					B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I	p.V11I			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	2	4575	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	11					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.31G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040842	0.55003	0.0	2.33E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65178	-0.12;-0.12;-0.12;-0.14	4.38	1.44	0.22558	.	0.195514	0.43747	N	0.000524	T	0.35307	0.0927	N	0.12182	0.205	0.49483	D	0.999795	B;B	0.16166	0.002;0.016	B;B	0.09377	0.003;0.004	T	0.04664	-1.0935	10	0.15499	T	0.54	.	6.6376	0.22891	0.1444:0.6987:0.0:0.1569	.	24;11	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	11;11;11;24	ENSP00000376359:V11I;ENSP00000307875:V11I;ENSP00000433847:V11I;ENSP00000445983:V24I	ENSP00000307875:V11I	V	-	1	0	B3GAT1	133762733	0.933000	0.31639	0.928000	0.36995	0.995000	0.86356	0.477000	0.22196	0.132000	0.18615	0.561000	0.74099	GTC		0.627	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		48	279	0	0	0	1	0	48	279					T	134257523	C	T	134257523	3	4	79	1	0	0	0	0	1	0	0	0	1254	536	19	1	989	1	B3GAT1	11	134257523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12996	134257523	748993	12897	23214											
IQSEC3	440073	broad.mit.edu	37	chr12	176596	176596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagggcgtcctgagcaggaGacctgagtgagcggggagag	19	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	183					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGCAGGAGACCTGAGTGA	0.647																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(547-549)aGa>aTa		IQ motif and Sec7 domain 3							27	36	33					12																	176596		1568	3582	5150	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:176596G>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.548G>T	12.37:g.176596G>T	ENSP00000437554:p.Arg183Ile					IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I	p.R183I			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	666	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		183					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.548G>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227833	0.58777	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10192	2.9;2.9	4.28	4.28	0.50868	.	7.977520	0.00166	N	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.47994	D	0.999564	.	.	.	.	.	.	T	0.17899	-1.0354	8	0.46703	T	0.11	.	7.9494	0.30006	0.1103:0.0:0.8897:0.0	.	.	.	.	I	183	ENSP00000437554:R183I;ENSP00000315662:R183I	ENSP00000315662:R183I	R	+	2	0	IQSEC3	46857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.187000	0.69744	0.561000	0.74099	AGA		0.647	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		18	124	1	0	1.50039e-11	1	1.60151e-11	18	124					T	176596	G	T	176596	3	4	79	1	0	0	0	0	1	0	0	0	7849	942	33	3	550	3	IQSEC3	12	176596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		176596	133675299	12898	23215											
IQSEC3	440073	broad.mit.edu	37	chr12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccatttcctcctccagCgaaagggcctcagccgccag	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	693	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCCTCCAGCGAAAGGGCCT	0.612																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2077-2079)Cga>Tga		IQ motif and Sec7 domain 3							98	93	94					12																	250375		2203	4300	6503	SO:0001587	stop_gained	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:250375C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2077C>T	12.37:g.250375C>T	ENSP00000437554:p.Arg693*					RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*|RP11-598F7.4_ENST00000508953.2_RNA	p.R693*			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	5	2195	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		693			SEC7.		A6NIF2|A6NKV9|Q8TB43	Nonsense_Mutation	SNP	ENST00000538872.1	37	c.2077C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302209	0.98750	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	.	.	.	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0142	0.64515	0.3356:0.6644:0.0:0.0	.	.	.	.	X	693;693;390	.	ENSP00000315662:R693X	R	+	1	2	IQSEC3	120636	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.531000	0.36018	2.763000	0.94921	0.561000	0.74099	CGA		0.612	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		63	450	0	0	0	1	0	63	450					T	250375	C	T	250375	4	4	79	1	0	0	0	0	0	1	0	0	7849	760	27	1	2095	1	IQSEC3	12	250375	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73779	250375	133601520	12899	23216											
IQSEC3	440073	broad.mit.edu	37	chr12	271138	271138	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggagctggtggtaggcatCtatgagaggatacagcagaa	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.I830I|IQSEC3_ENST00000382841.2_Silent_p.I527I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	830	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2488-2490)atC>atA		IQ motif and Sec7 domain 3							115	78	91					12																	271138		2203	4299	6502	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:271138C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2490C>A	12.37:g.271138C>A						IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I	p.I830I			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	8	2608	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		830			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2490C>A	CCDS53728.1																																																																																				0.577	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		27	100	1	0	9.04412e-07	1	9.34585e-07	27	100					A	271138	C	A	271138	2	1	79	1	0	0	0	0	0	0	0	1	7849	903	32	3		3	IQSEC3	12	271138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20763	271138	133580757	12900	23217											
IQSEC3	440073	broad.mit.edu	37	chr12	274980	274980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgccctgggctcggaCgagatgcagaagttcgtgga	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.D965D|IQSEC3_ENST00000382841.2_Silent_p.D662D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	965	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGGCTCGGACGAGATGCAGA	0.582																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2893-2895)gaC>gaT		IQ motif and Sec7 domain 3							76	73	74					12																	274980		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274980C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2895C>T	12.37:g.274980C>T						IQSEC3_ENST00000382841.2_Silent_p.D662D|IQSEC3_ENST00000326261.4_Silent_p.D965D|RP11-598F7.5_ENST00000540136.1_RNA	p.D965D			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	3013	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		965			PH.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2895C>T	CCDS53728.1																																																																																				0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		51	202	0	0	0	1	0	51	202					T	274980	C	T	274980	2	4	79	1	0	0	0	0	0	0	0	1	7849	535	19	1		1	IQSEC3	12	274980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3842	274980	133576915	12901	23218											
SLC6A13	6540	broad.mit.edu	37	chr12	330167	330167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaggtcctgggggtggCgggagccgagggtcctgctg	21	9	0	1	rs61738753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:330167C>T	ENST00000343164.4	-	15	1808	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.A494T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	586					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGGGGGTGGCGGGAGCCGAG	0.657													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17290	0.0		0.0	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1756-1758)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 13		C	THR/ALA,THR/ALA	27,4379	32.6+/-62.9	1,25,2177	54	50	51		1480,1756	2.1	0	12	dbSNP_129	51	0,8600		0,0,4300	yes	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	58,58	1,25,6477	TT,TC,CC		0.0,0.6128,0.2076	benign,benign	494/511,586/603	330167	27,12979	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330167C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1756G>A	12.37:g.330167C>T	ENSP00000339260:p.Ala586Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.A494T	p.A586T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1808	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		586					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1756G>A	CCDS8502.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	9.783	1.175747	0.21704	0.006128	0.0	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73575	-0.73;-0.76	4.15	2.12	0.27331	.	2.260890	0.02053	N	0.050198	T	0.45478	0.1344	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43426	-0.9392	10	0.21540	T	0.41	.	3.5166	0.07727	0.2745:0.5018:0.0:0.2237	.	494;565;586	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	494;565;586	ENSP00000407104:A494T;ENSP00000339260:A586T	ENSP00000318097:A565T	A	-	1	0	SLC6A13	200428	0.845000	0.29573	0.030000	0.17652	0.553000	0.35397	1.064000	0.30579	0.980000	0.38523	0.448000	0.29417	GCC		0.657	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		15	155	0	0	0	1	0	15	155					T	330167	C	T	330167	3	4	79	1	0	0	0	0	1	0	0	0	14726	768	27	1	56	1	SLC6A13	12	330167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55187	330167	133521728	12902	23219											
KDM5A	5927	broad.mit.edu	37	chr12	432350	432350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatatagcagagaagggaGgtcttctaatgggtagcgat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	725					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGAAGGGAGGTCTTCTAAT	0.328			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(2173-2175)Ctc>Ttc		lysine (K)-specific demethylase 5A							90	79	82					12																	432350		1849	4088	5937	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:432350G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2173C>T	12.37:g.432350G>A	ENSP00000382688:p.Leu725Phe					KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			16	2535	-			725					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.2173C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321988	0.60634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	Zinc finger, C5HC2-type (1);	0.055609	0.64402	D	0.000001	D	0.96169	0.8751	M	0.83483	2.645	0.50467	D	0.999873	B;B;B	0.28178	0.202;0.118;0.017	B;B;B	0.39771	0.307;0.309;0.046	D	0.95095	0.8225	10	0.56958	D	0.05	-10.091	13.7971	0.63177	0.0737:0.0:0.9263:0.0	.	725;725;725	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	F	344;684;725;725;344	ENSP00000382688:L725F;ENSP00000372265:L725F;ENSP00000440622:L344F	ENSP00000261253:L344F	L	-	1	0	KDM5A	302611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.011000	0.70760	2.676000	0.91093	0.563000	0.77884	CTC		0.328	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		35	171	0	0	0	1	0	35	171					A	432350	G	A	432350	3	1	79	1	0	0	0	0	1	0	0	0	8163	1000	35	2	2951	2	KDM5A	12	432350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102183	432350	133419545	12903	23220											
B4GALNT3	283358	broad.mit.edu	37	chr12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctctcctcttccagtggCgacggaacgaccctggagcc	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(790-792)Cga>Tga		beta-1,4-N-acetyl-galactosaminyl transferase 3							127	99	109					12																	657400		2203	4300	6503	SO:0001587	stop_gained	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657400C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	12.37:g.657400C>T	ENSP00000266383:p.Arg264*					B4GALNT3_ENST00000544638.1_3'UTR	p.R264*	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		9	803	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		264					Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	c.790C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		44	238	0	0	0	1	0	44	238					T	657400	C	T	657400	4	4	79	1	0	0	0	0	0	1	0	0	1269	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225050	657400	133194495	12904	23221											
B4GALNT3	283358	broad.mit.edu	37	chr12	665887	665887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctggtggggaggaggtCgaggcccggaacctgcaagg	19	10	0	0	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0					ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2233-2235)gtC>gtT		beta-1,4-N-acetyl-galactosaminyl transferase 3		C		4,4402	8.1+/-20.4	0,4,2199	48	46	47		2235	-11	0	12	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	B4GALNT3	NM_173593.3		0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538		745/999	665887	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665887C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2235C>T	12.37:g.665887C>T							p.V745V	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2248	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		745					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2235C>T	CCDS8504.1																																																																																				0.637	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		44	148	0	0	0	1	0	44	148					T	665887	C	T	665887	2	4	79	1	0	0	0	0	0	0	0	1	1269	871	31	1		1	B4GALNT3	12	665887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8487	665887	133186008	12905	23222											
WNK1	65125	broad.mit.edu	37	chr12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagcagcagggaatacagCagacagcccctcctcaacag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000315939.6	+	10	2882	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	747					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGAATACAGCAGACAGCCCC	0.438																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3478-3480)Cag>Tag		WNK lysine deficient protein kinase 1							110	98	102					12																	987393		2203	4300	6503	SO:0001587	stop_gained	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:987393C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2239C>T	12.37:g.987393C>T	ENSP00000313059:p.Gln747*					WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q747*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*	p.Q1160*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	4121	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		905					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.3478C>T	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.339887|12.339887	0.99658|0.99658	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000544965;ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.191642	.|0.37095	.|N	.|0.002245	T|.	0.66713|.	0.2817|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57353|.	-0.7826|.	3|.	.|0.16896	.|T	.|0.51	-1.1582|-1.1582	18.6582|18.6582	0.91462|0.91462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69;66|746;747;1160;166;1245;340;17	.|.	.|ENSP00000252477:Q166X	A|Q	+|+	2|1	0|0	WNK1|WNK1	857654|857654	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	4.571000|4.571000	0.60879|0.60879	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.438	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		56	382	0	0	0	1	0	56	382					T	987393	C	T	987393	4	4	79	1	0	0	0	0	0	1	0	0	17431	711	25	2	3779	2	WNK1	12	987393	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321506	987393	132864502	12906	23223											
ERC1	23085	broad.mit.edu	37	chr12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgagttcttcaatgaataGcatcaagaccttctggagcc	8	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	185					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCAATGAATAGCATCAAGACC	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(553-555)aGc>aTc		ELKS/RAB6-interacting/CAST family member 1							90	84	86					12																	1137623		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137623G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.554G>T	12.37:g.1137623G>T	ENSP00000380386:p.Ser185Ile					ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I	p.S185I			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	960	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		185					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.554G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020112	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.70518	0.3233	M	0.74647	2.275	0.49299	D	0.999773	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.952;0.965;0.99	T	0.70781	-0.4779	10	0.52906	T	0.07	-12.3985	19.7395	0.96220	0.0:0.0:1.0:0.0	.	185;185;185	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	I	185	ENSP00000340054:S185I;ENSP00000380386:S185I;ENSP00000438546:S185I;ENSP00000445336:S185I;ENSP00000442976:S185I;ENSP00000442739:S185I;ENSP00000347621:S185I;ENSP00000354158:S185I;ENSP00000410064:S185I	ENSP00000299183:S185I	S	+	2	0	ERC1	1007884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.147000	0.71783	2.669000	0.90835	0.655000	0.94253	AGC		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		50	257	1	0	1.4374e-25	1	1.6504e-25	50	257					T	1137623	G	T	1137623	3	4	79	1	0	0	0	0	1	0	0	0	5228	971	34	3	556	3	ERC1	12	1137623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150230	1137623	132714272	12907	23224											
ERC1	23085	broad.mit.edu	37	chr12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgagtactgaggaaagGgaagaagaaatgaagcaaat	13	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000397203.2	+	5	1663	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	419					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTGAGGAAAGGGAAGAAGAAA	0.388																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1255-1257)agG>agT		ELKS/RAB6-interacting/CAST family member 1							115	117	116					12																	1219453		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1219453G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1257G>T	12.37:g.1219453G>T	ENSP00000380386:p.Arg419Ser					ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S	p.R419S			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		5	1663	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		419					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1257G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492438	0.64074	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.93	1.33	0.21861	.	0.059501	0.64402	D	0.000001	T	0.69717	0.3142	L	0.54323	1.7	0.49213	D	0.999763	P;D;D;D;D	0.64830	0.917;0.974;0.994;0.993;0.988	P;P;P;P;D	0.65233	0.557;0.786;0.856;0.863;0.933	T	0.67845	-0.5565	10	0.10636	T	0.68	-17.5835	2.8857	0.05660	0.2938:0.0969:0.463:0.1462	.	195;56;419;419;419	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	S	419;419;419;419;419;419;419;419;419;419;195;56	ENSP00000340054:R419S;ENSP00000380386:R419S;ENSP00000438546:R419S;ENSP00000445336:R419S;ENSP00000442739:R419S;ENSP00000347621:R419S;ENSP00000354158:R419S;ENSP00000410064:R419S	ENSP00000340054:R419S	R	+	3	2	ERC1	1089714	0.221000	0.23642	0.999000	0.59377	0.900000	0.52787	-0.547000	0.06055	0.356000	0.24157	0.585000	0.79938	AGG		0.388	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		52	282	1	0	4.17463e-26	1	4.80398e-26	52	282					T	1219453	G	T	1219453	3	4	79	1	0	0	0	0	1	0	0	0	5228	1223	43	3	1271	3	ERC1	12	1219453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81830	1219453	132632442	12908	23225											
ERC1	23085	broad.mit.edu	37	chr12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagatacatgacctcaaGgacatgttggatgtgaagga	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000397203.2	+	8	2095	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	563					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACCTCAAGGACATGTTGG	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1687-1689)aaG>aaT		ELKS/RAB6-interacting/CAST family member 1							215	153	174					12																	1250905		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1250905G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1689G>T	12.37:g.1250905G>T	ENSP00000380386:p.Lys563Asn					ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N	p.K563N			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		8	2095	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		563					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1689G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.08;0.69;0.69;0.69;-1.08;-1.08;0.69	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.58428	1.81	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.997;0.963;1.0	D	0.84186	0.0442	10	0.37606	T	0.19	-29.5886	14.3623	0.66782	0.0708:0.0:0.9292:0.0	.	311;203;535;535;563	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	535;563;535;535;263;535;535;263;563;563;563;535;311;203	ENSP00000340054:K535N;ENSP00000380386:K563N;ENSP00000438546:K535N;ENSP00000442976:K263N;ENSP00000442739:K563N;ENSP00000347621:K563N;ENSP00000354158:K563N;ENSP00000410064:K535N	ENSP00000299183:K263N	K	+	3	2	ERC1	1121166	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.356000	0.44116	1.380000	0.46344	0.655000	0.94253	AAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		34	176	1	0	2.47316e-13	1	2.66891e-13	34	176					T	1250905	G	T	1250905	3	4	79	1	0	0	0	0	1	0	0	0	5228	991	35	3	1715	3	ERC1	12	1250905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31452	1250905	132600990	12909	23226											
ERC1	23085	broad.mit.edu	37	chr12	1291225	1291225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcaaggcgacctttcagaGaaagaggttaagctccccaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000397203.2	+	10	2416	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Silent_p.E670E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	670					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCTTTCAGAGAAAGAGGTTA	0.363																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2008-2010)gaG>gaA		ELKS/RAB6-interacting/CAST family member 1							54	56	55					12																	1291225		2203	4300	6503	SO:0001819	synonymous_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291225G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2010G>A	12.37:g.1291225G>A						ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000355446.5_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Silent_p.E670E	p.E670E			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2416	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		670					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	c.2010G>A	CCDS8508.1																																																																																				0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		14	152	0	0	0	1	0	14	152					A	1291225	G	A	1291225	2	1	79	1	0	0	0	0	0	0	0	1	5228	933	33	2		2	ERC1	12	1291225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40320	1291225	132560670	12910	23227											
ERC1	23085	broad.mit.edu	37	chr12	1346029	1346029	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgttagaggaggcgcgaCgacgggaggacaatctcaac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1346029C>T	ENST00000397203.2	+	13	2852	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	816					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAGGCGCGACGACGGGAGGA	0.458																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2446-2448)Cga>Tga		ELKS/RAB6-interacting/CAST family member 1							128	112	117					12																	1346029		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1346029C>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2446C>T	12.37:g.1346029C>T	ENSP00000380386:p.Arg816*					ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*	p.R816*			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		13	2852	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		816					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.2446C>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	37	6.457092	0.97581	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.81	2.76	0.32466	.	0.116075	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.4586	15.2903	0.73862	0.4961:0.5039:0.0:0.0	.	.	.	.	X	792;816;792;792;520;788;792;520;816;816;816;792;568;456	.	ENSP00000299183:R520X	R	+	1	2	ERC1	1216290	0.999000	0.42202	0.441000	0.26858	0.443000	0.32047	2.599000	0.46231	0.718000	0.32166	0.650000	0.86243	CGA		0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		15	155	0	0	0	1	0	15	155					T	1346029	C	T	1346029	4	4	79	1	0	0	0	0	0	1	0	0	5228	528	19	1	2492	1	ERC1	12	1346029	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54804	1346029	132505866	12911	23228											
WNT5B	81029	broad.mit.edu	37	chr12	1741887	1741887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtgcccagcccgtgtgCagtcagcttcccgggctctc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000397196.2	+	3	376	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	48					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567																																						ENST00000397196.2																			0				skin(1)	1						c.(142-144)tgC>tgT		wingless-type MMTV integration site family, member 5B							100	104	102					12																	1741887		2203	4300	6503	SO:0001819	synonymous_variant	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741887C>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.144C>T	12.37:g.1741887C>T						WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C	p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	376	+	Ovarian(42;0.107)		48					A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	c.144C>T	CCDS8510.1																																																																																				0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			117	715	0	0	0	1	0	117	715					T	1741887	C	T	1741887	2	4	79	1	0	0	0	0	0	0	0	1	17446	718	25	2		2	WNT5B	12	1741887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395858	1741887	132110008	12912	23229											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgctgtccatgtaggCctctgtccagatgatgtcgt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	490	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1468-1470)Gcc>Acc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							80	85	83					12																	1992050		2134	4259	6393	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992050C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1468G>A	12.37:g.1992050C>T	ENSP00000372169:p.Ala490Thr					CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T	p.A490T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	13	1830	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	490			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1468G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211218	0.95069	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08102	3.13	5.29	5.29	0.74685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.941;1.0	T	0.00948	-1.1504	10	0.59425	D	0.04	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	490;490	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	426;490;490	ENSP00000372169:A490T	ENSP00000280663:A490T	A	-	1	0	CACNA2D4	1862311	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GCC		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			19	120	0	0	0	1	0	19	120					T	1992050	C	T	1992050	3	4	79	1	0	0	0	0	1	0	0	0	2558	739	26	2	2049	2	CACNA2D4	12	1992050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250163	1992050	131859845	12913	23230											
DCP1B	196513	broad.mit.edu	37	chr12	2055426	2055426	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgaagagataggcttcataGattatatttaagaagttgtc	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	600					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(1798-1800)atC>atT		decapping mRNA 1B							87	84	85					12																	2055426		2203	4300	6503	SO:0001819	synonymous_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2055426G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1800C>T	12.37:g.2055426G>A						DCP1B_ENST00000397173.4_Silent_p.I498I	p.I600I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		9	1879	-			600					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	c.1800C>T	CCDS31727.1																																																																																				0.393	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		23	199	0	0	0	1	0	23	199					A	2055426	G	A	2055426	2	1	79	1	0	0	0	0	0	0	0	1	4310	932	33	2		2	DCP1B	12	2055426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63376	2055426	131796469	12914	23231											
DCP1B	196513	broad.mit.edu	37	chr12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagcattttgtacaccacGagaagttccaatgttgtgag	11	7	0	2	rs202169607		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000280665.6	-	7	1109	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	344			R -> H (in dbSNP:rs715146).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19623	0.0		0.001	False		,,,				2504	0.0					ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(1030-1032)Cgt>Tgt		decapping mRNA 1B							83	92	89					12																	2062076		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062076G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1030C>T	12.37:g.2062076G>A	ENSP00000280665:p.Arg344Cys					DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C	p.R344C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	1109	-			344		R -> H (in dbSNP:rs715146).			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1030C>T	CCDS31727.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.968	0.972216	0.18736	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18960	2.19;2.19;2.18	4.74	0.415	0.16411	.	0.779686	0.12137	N	0.496205	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30238	-0.9985	10	0.49607	T	0.09	0.9252	8.1297	0.31020	0.4662:0.0:0.5338:0.0	.	242;344	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	C	344;242;218	ENSP00000280665:R344C;ENSP00000380358:R242C;ENSP00000444374:R218C	ENSP00000280665:R344C	R	-	1	0	DCP1B	1932337	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	0.617000	0.24359	-0.104000	0.12154	-0.137000	0.14449	CGT		0.507	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		86	310	0	0	0	1	0	86	310					A	2062076	G	A	2062076	3	1	79	1	0	0	0	0	1	0	0	0	4310	1058	37	1	835	1	DCP1B	12	2062076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6650	2062076	131789819	12915	23232											
DCP1B	196513	broad.mit.edu	37	chr12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggagagtctgcggaGgctccacagtttcctgacat	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000280665.6	-	7	816	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	246					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(736-738)cCt>cAt		decapping mRNA 1B							43	48	46					12																	2062369		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062369G>T	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.737C>A	12.37:g.2062369G>T	ENSP00000280665:p.Pro246His					DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H	p.P246H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	816	-			246					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.737C>A	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329106	0.24167	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23147	2.01;1.99;1.92	4.93	-0.695	0.11291	.	0.896531	0.09811	N	0.752777	T	0.13072	0.0317	N	0.21448	0.665	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.16722	0.005;0.016	T	0.31696	-0.9934	10	0.31617	T	0.26	-0.0327	1.402	0.02273	0.2313:0.1138:0.3995:0.2554	.	144;246	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	246;144;120	ENSP00000280665:P246H;ENSP00000380358:P144H;ENSP00000444374:P120H	ENSP00000280665:P246H	P	-	2	0	DCP1B	1932630	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.047000	0.14056	0.012000	0.14892	0.650000	0.86243	CCT		0.527	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		55	229	1	0	2.23322e-12	1	2.39693e-12	55	229					T	2062369	G	T	2062369	3	4	79	1	0	0	0	0	1	0	0	0	4310	1000	35	3	1128	3	DCP1B	12	2062369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	2062369	131789526	12916	23233											
DCP1B	196513	broad.mit.edu	37	chr12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttttggctcagaacaggTtttacactgaaatagaaaag	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000280665.6	-	6	608	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(529-531)Acc>Gcc		decapping mRNA 1B							153	150	151					12																	2064720		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064720T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.529A>G	12.37:g.2064720T>C	ENSP00000280665:p.Thr177Ala					DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A	p.T177A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	608	-			177					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.529A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532341	0.64972	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18502	2.22;2.21;2.21	5.73	3.21	0.36854	.	0.236512	0.43919	D	0.000515	T	0.12135	0.0295	L	0.57536	1.79	0.32763	N	0.504865	P;B	0.38788	0.647;0.278	B;B	0.30179	0.091;0.112	T	0.18650	-1.0330	10	0.42905	T	0.14	-21.607	3.3778	0.07243	0.1345:0.0739:0.1399:0.6516	.	75;177	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	A	177;75;51	ENSP00000280665:T177A;ENSP00000380358:T75A;ENSP00000444374:T51A	ENSP00000280665:T177A	T	-	1	0	DCP1B	1934981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.953000	0.29162	0.978000	0.38470	0.533000	0.62120	ACC		0.353	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		82	512	0	0	0	1	0	82	512					C	2064720	T	C	2064720	3	2	79	1	0	0	0	0	1	0	0	0	4310	1725	60	4	1340	4	DCP1B	12	2064720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2351	2064720	131787175	12917	23234											
CACNA1C	775	broad.mit.edu	37	chr12	2717701	2717701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaccgctccatcgactcCcacacggaagacaagggccc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000347598.4	+	28	3441	c.3441C>A	c.(3439-3441)tcC>tcA	p.S1147S	CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399655.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1147	Dihydropyridine binding. {ECO:0000250}.				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)			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)	CCATCGACTCCCACACGGAAG	0.552																																						ENST00000399655.1																			0				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						c.(3379-3381)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						68	63	64					12																	2717701		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:2717701C>A	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.3441C>A	12.37:g.2717701C>A						CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000347598.4_Silent_p.S1147S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S	p.S1127S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3646	+			1147			Dihydropyridine binding (By similarity).		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	Silent	SNP	ENST00000347598.4	37	c.3381C>A	CCDS44788.1																																																																																				0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		25	75	1	0	1.10923e-09	1	1.16946e-09	25	75					A	2717701	C	A	2717701	2	1	79	1	0	0	0	0	0	0	0	1	2547	610	22	3		3	CACNA1C	12	2717701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652981	2717701	131134194	12918	23235											
CACNA1C	775	broad.mit.edu	37	chr12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgcctgttcaaaatcGccatgaacatcctcaacatg	7	12	2	2	rs373930708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000347598.4	+	30	3808	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1270					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)			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)	GTTCAAAATCGCCATGAACAT	0.567																																						ENST00000399655.1																			0				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						c.(3748-3750)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4371	2.1+/-5.4	0,1,2185	103	100	101		3748,3808,3748,3748,3748,3808,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3739,3748,3748,3748,3748,3808	4.3	1	12		101	0,8592		0,0,4296	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6481	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1250/2139,1270/2187,1250/2180,1250/2174,1250/2167,1270/2159,1250/2158,1250/2158,1250/2158,1250/2156,1250/2147,1250/2147,1250/2145,1250/2139,1250/2139,1250/2139,1250/2139,1247/2136,1250/2128,1250/2139,1250/2174,1250/2199,1270/2222	2721099	1,12963	2186	4296	6482	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.chr12:2721099G>A	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.3808G>A	12.37:g.2721099G>A	ENSP00000266376:p.Ala1270Thr					CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T	p.A1250T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	29	4013	+			1270					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.3748G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753981	0.89843	2.29E-4	0.0	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.2	4.29	0.51040	.	0.171847	0.51477	D	0.000090	D	0.96781	0.8949	L	0.28556	0.865	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.922;1.0;0.999;1.0;1.0;0.996;0.88;0.999;1.0;0.607;0.999;1.0;0.999;1.0;0.901;1.0;0.585;1.0;1.0;1.0;1.0;0.998;1.0	D;D;B;D;D;D;D;D;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;P;D	0.87578	0.996;0.994;0.186;0.996;0.994;0.994;0.998;0.96;0.212;0.994;0.998;0.095;0.995;0.99;0.992;0.992;0.37;0.998;0.065;0.998;0.998;0.998;0.998;0.884;0.991	D	0.96515	0.9381	10	0.56958	D	0.05	.	13.4928	0.61407	0.0757:0.0:0.9243:0.0	.	1250;1247;1270;1250;1250;1250;1250;1250;1250;1270;1250;1221;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1275;1250;1250;1250;1250;1250;1250;1250;1250;1250;1270;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1091	ENSP00000336982:A1275T;ENSP00000382563:A1250T;ENSP00000437936:A1250T;ENSP00000382552:A1250T;ENSP00000382547:A1250T;ENSP00000382506:A1250T;ENSP00000382530:A1250T;ENSP00000382546:A1250T;ENSP00000382500:A1250T;ENSP00000382549:A1250T;ENSP00000266376:A1270T;ENSP00000382515:A1270T;ENSP00000382510:A1250T;ENSP00000341092:A1250T;ENSP00000382537:A1250T;ENSP00000329877:A1250T;ENSP00000382557:A1250T;ENSP00000385724:A1250T;ENSP00000382512:A1250T;ENSP00000382542:A1250T;ENSP00000382526:A1250T;ENSP00000385896:A1250T;ENSP00000382504:A1250T	ENSP00000323129:A1091T	A	+	1	0	CACNA1C	2591360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.570000	0.86706	0.655000	0.94253	GCC		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		22	185	0	0	0	1	0	22	185					A	2721099	G	A	2721099	3	1	79	1	0	0	0	0	1	0	0	0	2547	1087	38	1	4034	1	CACNA1C	12	2721099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3398	2721099	131130796	12919	23236											
CACNA1C	775	broad.mit.edu	37	chr12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatccggacgctgctgtgGaccttcatcaagtccttcca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000347598.4	+	34	4197	c.4197G>A	c.(4195-4197)tgG>tgA	p.W1399*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					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)			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)	CGCTGCTGTGGACCTTCATCA	0.632																																						ENST00000399655.1																			0				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						c.(4051-4053)tgG>tgA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						44	53	50					12																	2760913		2195	4295	6490	SO:0001587	stop_gained	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.chr12:2760913G>A	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.4197G>A	12.37:g.2760913G>A	ENSP00000266376:p.Trp1399*					CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W1399*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*	p.W1351*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	4318	+			1399					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	Nonsense_Mutation	SNP	ENST00000347598.4	37	c.4053G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.355789	0.99147	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.17	4.27	0.50696	.	0.125129	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	.	.	.	X	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	.	ENSP00000323129:W1181X	W	+	3	0	CACNA1C	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG		0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		20	199	0	0	0	1	0	20	199					A	2760913	G	A	2760913	4	1	79	1	0	0	0	0	0	1	0	0	2547	1183	41	2	4505	2	CACNA1C	12	2760913	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39814	2760913	131090982	12920	23237											
CACNA1C	775	broad.mit.edu	37	chr12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcacggagggtgaaAcaccctgtggtagcagcttt	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000347598.4	+	37	4477	c.4477A>C	c.(4477-4479)Aca>Cca	p.T1493P	CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1493	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				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)			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)	GGAGGGTGAAACACCCTGTGG	0.587																																						ENST00000399655.1																			0				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						c.(4333-4335)Aca>Cca		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						54	59	57					12																	2774091		2203	4300	6503	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.chr12:2774091A>C	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.4477A>C	12.37:g.2774091A>C	ENSP00000266376:p.Thr1493Pro					CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1493P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P	p.T1445P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	35	4598	+			1493					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.4333A>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	5.093	0.202823	0.09652	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.88;-3.91;-3.93;-3.83;-3.88;-3.91;-3.81;-3.84;-3.92;-3.94;-3.83;-3.76;-3.99;-3.93;-3.91;-3.94;-3.85;-3.94;-3.99	4.07	-1.38	0.09027	Ion transport (1);	0.447550	0.25619	N	0.029437	D	0.88153	0.6360	N	0.04959	-0.14	0.09310	N	1	B;P;P;B;B;B;P;B;B;B;B;P;B;B;P;B;P;B;B;B;B;B;B;B;B	0.45827	0.001;0.755;0.49;0.009;0.351;0.351;0.49;0.228;0.016;0.129;0.228;0.683;0.009;0.429;0.492;0.003;0.867;0.0;0.351;0.0;0.256;0.351;0.351;0.003;0.256	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44518	0.005;0.452;0.315;0.032;0.334;0.264;0.315;0.322;0.141;0.15;0.264;0.409;0.022;0.322;0.357;0.026;0.439;0.003;0.334;0.003;0.099;0.264;0.264;0.005;0.176	D	0.84372	0.0544	10	0.40728	T	0.16	.	5.47	0.16664	0.3668:0.3625:0.2706:0.0	.	136;1467;1442;1493;1445;1445;1445;1462;1473;1445;1465;1445;1405;1493;1445;1445;1445;1434;1432;1434;1434;1445;1445;1445;1445	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1470;1445;1445;1473;1445;1445;1445;1434;1445;1493;1465;1445;1467;1462;1445;1432;1445;1445;1445;1445;1445;1434;1275	ENSP00000336982:T1470P;ENSP00000382563:T1445P;ENSP00000382552:T1445P;ENSP00000382547:T1473P;ENSP00000382506:T1445P;ENSP00000382530:T1445P;ENSP00000382546:T1445P;ENSP00000382500:T1434P;ENSP00000382549:T1445P;ENSP00000266376:T1493P;ENSP00000382515:T1465P;ENSP00000382510:T1445P;ENSP00000341092:T1467P;ENSP00000382537:T1462P;ENSP00000329877:T1445P;ENSP00000382557:T1432P;ENSP00000385724:T1445P;ENSP00000382512:T1445P;ENSP00000382542:T1445P;ENSP00000382526:T1445P;ENSP00000385896:T1445P;ENSP00000382504:T1434P	ENSP00000323129:T1275P	T	+	1	0	CACNA1C	2644352	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.426000	0.21363	-0.335000	0.08451	-1.251000	0.01509	ACA		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		24	143	0	0	0	1	0	24	143					C	2774091	A	C	2774091	3	2	79	1	0	0	0	0	1	0	0	0	2547	43	2	4	4797	4	CACNA1C	12	2774091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13178	2774091	131077804	12921	23238											
CACNA1C	775	broad.mit.edu	37	chr12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaagctgtgccctcacCgcgtggcttgcaaagtaaga	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000347598.4	+	39	4753	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1585					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)			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)	GTGCCCTCACCGCGTGGCTTG	0.537																																						ENST00000399655.1																			0				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						c.(4609-4611)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						36	38	37					12																	2775934		1946	4150	6096	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.chr12:2775934C>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.4753C>T	12.37:g.2775934C>T	ENSP00000266376:p.Arg1585Cys					CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1585C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C	p.R1537C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	37	4874	+			1585			Dihydropyridine binding (By similarity).		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.4609C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774214	0.69992	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97138	-4.19;-4.18;-4.19;-4.2;-4.18;-4.22;-4.11;-4.15;-4.19;-4.13;-4.12;-4.19;-4.25;-4.12;-4.02;-4.26;-4.21;-4.18;-4.2;-4.12;-4.19;-4.26	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.99;0.999;0.993;0.998;0.995;0.999;0.999;0.998;0.998;0.999;0.999;0.999;0.998	D	0.99651	1.0991	10	0.87932	D	0	.	17.492	0.87707	0.0:1.0:0.0:0.0	.	228;1559;1534;1585;1537;1537;1537;1554;1565;1537;1557;1537;1497;1585;1537;1537;1537;1526;1524;1526;1526;1537;1537;1537;1537	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1562;1537;1537;1565;1537;1537;1537;1526;1537;1585;1557;1537;1559;1554;1537;1524;1537;1537;1537;1537;1537;1526;1367	ENSP00000336982:R1562C;ENSP00000382563:R1537C;ENSP00000382552:R1537C;ENSP00000382547:R1565C;ENSP00000382506:R1537C;ENSP00000382530:R1537C;ENSP00000382546:R1537C;ENSP00000382500:R1526C;ENSP00000382549:R1537C;ENSP00000266376:R1585C;ENSP00000382515:R1557C;ENSP00000382510:R1537C;ENSP00000341092:R1559C;ENSP00000382537:R1554C;ENSP00000329877:R1537C;ENSP00000382557:R1524C;ENSP00000385724:R1537C;ENSP00000382512:R1537C;ENSP00000382542:R1537C;ENSP00000382526:R1537C;ENSP00000385896:R1537C;ENSP00000382504:R1526C	ENSP00000323129:R1367C	R	+	1	0	CACNA1C	2646195	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.161000	0.42358	2.429000	0.82318	0.655000	0.94253	CGC		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		13	51	0	0	0	1	0	13	51					T	2775934	C	T	2775934	3	4	79	1	0	0	0	0	1	0	0	0	2547	652	23	1	5081	1	CACNA1C	12	2775934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	2775934	131075961	12922	23239											
CACNA1C	775	broad.mit.edu	37	chr12	2788897	2788897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtcagcactgtggagggCcacgggccccccttgtcccc	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000347598.4	+	44	5523	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399655.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1841					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)			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)	CTGTGGAGGGCCACGGGCCCC	0.692																																						ENST00000399655.1																			0				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						c.(5377-5379)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						34	39	37					12																	2788897		2023	4179	6202	SO:0001819	synonymous_variant	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.chr12:2788897C>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.5523C>T	12.37:g.2788897C>T						CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000347598.4_Silent_p.G1841G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000399638.1_Silent_p.G1821G	p.G1793G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	42	5644	+			1841					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	Silent	SNP	ENST00000347598.4	37	c.5379C>T	CCDS44788.1																																																																																				0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		11	58	0	0	0	1	0	11	58					T	2788897	C	T	2788897	2	4	79	1	0	0	0	0	0	0	0	1	2547	726	26	2		2	CACNA1C	12	2788897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12963	2788897	131062998	12923	23240											
CACNA1C	775	broad.mit.edu	37	chr12	2795331	2795331	+	Splice_Site	SNP	G	G	T													gctctctggctggctttgcaGgtcgaagggcctccttccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000347598.4	+	47	5824		c.e47-1		CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						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)			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)	TGGCTTTGCAGGTCGAAGGGC	0.577																																						ENST00000399655.1																			0				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						c.e45-1		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						72	76	75					12																	2795331		2018	4174	6192	SO:0001630	splice_region_variant	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.chr12:2795331G>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.5825-1G>T	12.37:g.2795331G>T						CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site		NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	45	5945	+								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	Splice_Site	SNP	ENST00000347598.4	37		CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861970	0.71949	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2665592	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.147000	0.94646	2.416000	0.81992	0.460000	0.39030	.		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Intron	65	324	1	0	4.45325e-31	1	5.23636e-31	65	324					T	2795331	G	T	2795331	5	4	79	1	0	0	0	0	0	0	1	0	2547	1014	35	3	6567	3	CACNA1C	12	2795331	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6434	2795331	131056564	12924	23241	147	2									
CACNA1C	775	broad.mit.edu	37	chr12	2795339	2795339	+	Silent	SNP	G	G	A													gctggctttgcaggtcgaagGgcctccttccacctggaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000347598.4	+	47	5832	c.5832G>A	c.(5830-5832)agG>agA	p.R1944R	CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399655.1_Silent_p.R1896R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000402845.3_Silent_p.R1915R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1979					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)			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)	CAGGTCGAAGGGCCTCCTTCC	0.572																																						ENST00000399655.1																			0				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						c.(5686-5688)agG>agA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						84	88	86					12																	2795339		2010	4178	6188	SO:0001819	synonymous_variant	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.chr12:2795339G>A	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.5832G>A	12.37:g.2795339G>A						CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000347598.4_Silent_p.R1944R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000399638.1_Silent_p.R1924R	p.R1896R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	45	5953	+			1979					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	Silent	SNP	ENST00000347598.4	37	c.5688G>A	CCDS44788.1																																																																																				0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		65	358	0	0	0	1	0	65	358					A	2795339	G	A	2795339	2	1	79	1	0	0	0	0	0	0	0	1	2547	1223	43	2		2	CACNA1C	12	2795339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	2795339	131056556	12925	23242	147	2									
CACNA1C	775	broad.mit.edu	37	chr12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggtgcccagccaggCtggggccccagggaggcagt	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000347598.4	+	48	6209	c.6209C>A	c.(6208-6210)gCt>gAt	p.A2070D	CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2105					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)			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)	CCCAGCCAGGCTGGGGCCCCA	0.721																																						ENST00000399655.1																			0				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						c.(6064-6066)gCt>gAt		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						9	12	11					12																	2797893		1931	4095	6026	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.chr12:2797893C>A	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.6209C>A	12.37:g.2797893C>A	ENSP00000266376:p.Ala2070Asp					CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2070D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D	p.A2022D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6330	+			2105					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.6065C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615424	0.28801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.21	5.21	0.72293	.	0.164115	0.39475	N	0.001360	T	0.44008	0.1273	N	0.25647	0.755	0.25660	N	0.986018	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.40834	0.286;0.73;0.145;0.286;0.374;0.374;0.178;0.21;0.026;0.003;0.321;0.145;0.302;0.404;0.09;0.078;0.302;0.127;0.515;0.127;0.178;0.127;0.321;0.145;0.145	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.042;0.299;0.036;0.066;0.156;0.156;0.107;0.156;0.062;0.012;0.156;0.023;0.109;0.156;0.016;0.075;0.109;0.139;0.156;0.139;0.073;0.139;0.156;0.079;0.036	T	0.38908	-0.9639	10	0.35671	T	0.21	.	18.7594	0.91845	0.0:1.0:0.0:0.0	.	713;2063;2019;2105;2057;2041;2022;2039;2050;2022;2042;2022;2053;2070;2022;2057;2093;2030;2028;2030;2011;2041;2041;2022;2022	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2047;2022;2022;2050;2022;2041;2041;2030;2022;2070;2042;2022;2063;2039;2057;2028;2041;2022;2093;2057;2093;2030;1923	ENSP00000336982:A2047D;ENSP00000382563:A2022D;ENSP00000382552:A2022D;ENSP00000382547:A2050D;ENSP00000382506:A2022D;ENSP00000382530:A2041D;ENSP00000382546:A2041D;ENSP00000382500:A2030D;ENSP00000382549:A2022D;ENSP00000266376:A2070D;ENSP00000382515:A2042D;ENSP00000382510:A2022D;ENSP00000341092:A2063D;ENSP00000382537:A2039D;ENSP00000329877:A2057D;ENSP00000382557:A2028D;ENSP00000385724:A2041D;ENSP00000382512:A2022D;ENSP00000382542:A2093D;ENSP00000382526:A2057D;ENSP00000385896:A2093D;ENSP00000382504:A2030D	ENSP00000323129:A1923D	A	+	2	0	CACNA1C	2668154	0.001000	0.12720	0.955000	0.39395	0.197000	0.23852	0.340000	0.19892	2.428000	0.82296	0.462000	0.41574	GCT		0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		21	92	1	0	0.000132079	1	0.000134276	21	92					A	2797893	C	A	2797893	3	1	79	1	0	0	0	0	1	0	0	0	2547	797	28	3	6956	3	CACNA1C	12	2797893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	2797893	131054002	12926	23243											
FKBP4	2288	broad.mit.edu	37	chr12	2907877	2907877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgtcccacaggtggaGttgtttgagtttaagggaga	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	133	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CACAGGTGGAGTTGTTTGAGT	0.483																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(397-399)gaG>gaA		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						162	150	154					12																	2907877		2203	4300	6503	SO:0001819	synonymous_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2907877G>A	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.399G>A	12.37:g.2907877G>A						RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.E133E	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		4	586	+			133			PPIase FKBP-type 1.		D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	c.399G>A	CCDS8512.1																																																																																				0.483	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			105	515	0	0	0	1	0	105	515					A	2907877	G	A	2907877	2	1	79	1	0	0	0	0	0	0	0	1	5935	1020	36	2		2	FKBP4	12	2907877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109984	2907877	130944018	12927	23244											
FOXM1	2305	broad.mit.edu	37	chr12	2973867	2973867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtgcgcccagggggagttCggttttgatggtcatgttcc	15	9	1	1	rs376160082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2973867C>T	ENST00000359843.3	-	7	1140	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.E358K|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	358					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGGGGAGTTCGGTTTTGATG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.001					ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1072-1074)Gaa>Aaa		forkhead box M1		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	165	144	151		1072,1072,1027	4.8	1	12		151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/764,358/802,343/749	2973867	1,13005	2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973867C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1072G>A	12.37:g.2973867C>T	ENSP00000352901:p.Glu358Lys					FOXM1_ENST00000359843.3_Missense_Mutation_p.E358K|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K	p.E358K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		7	1185	-			358					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1072G>A	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936750|2.936750	0.52972|0.52972	0.0|0.0	1.16E-4|1.16E-4	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.92805|.	-2.97;-3.11;-3.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.604087|.	0.16138|.	N|.	0.227843|.	T|T	0.37293|0.37293	0.0998|0.0998	N|N	0.14661|0.14661	0.345|0.345	0.30901|0.30901	N|N	0.729328|0.729328	P;D;P;D;D|.	0.69078|.	0.898;0.971;0.939;0.971;0.997|.	B;B;B;B;P|.	0.59487|.	0.234;0.298;0.412;0.298;0.858|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.25751|.	T|.	0.34|.	.|.	14.7477|14.7477	0.69501|0.69501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	342;358;343;358;358|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	K|Q	358;343;358|83	ENSP00000342307:E358K;ENSP00000354492:E343K;ENSP00000352901:E358K|.	ENSP00000342307:E358K|.	E|R	-|-	1|2	0|0	FOXM1|FOXM1	2844128|2844128	0.323000|0.323000	0.24643|0.24643	0.984000|0.984000	0.44739|0.44739	0.242000|0.242000	0.25591|0.25591	1.607000|1.607000	0.36836|0.36836	2.500000|2.500000	0.84329|0.84329	0.313000|0.313000	0.20887|0.20887	GAA|CGA		0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		22	563	0	0	0	1	0	22	563					T	2973867	C	T	2973867	3	4	79	1	0	0	0	0	1	0	0	0	6045	893	31	1	1349	1	FOXM1	12	2973867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65990	2973867	130878028	12928	23245											
TEAD4	7004	broad.mit.edu	37	chr12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaacgagctgattgcccGctacatcaagctccggacag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(247-249)cGc>cAc		TEA domain family member 4							74	72	73					12																	3120191		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3120191G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.248G>A	12.37:g.3120191G>A	ENSP00000352926:p.Arg83His					TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H	p.R83H	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		4	438	+	Ovarian(42;0.211)		83					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	37	c.248G>A	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860372	0.91433	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.34472	1.36;1.36;1.36	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-22.6944	15.6893	0.77436	0.0:0.0:1.0:0.0	.	83	Q15561	TEAD4_HUMAN	H	83	ENSP00000351184:R83H;ENSP00000352926:R83H;ENSP00000444528:R83H	ENSP00000351184:R83H	R	+	2	0	TEAD4	2990452	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	7.666000	0.83877	2.556000	0.86216	0.561000	0.74099	CGC		0.627	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213		95	363	0	0	0	1	0	95	363					A	3120191	G	A	3120191	3	1	79	1	0	0	0	0	1	0	0	0	15793	1087	38	1	254	1	TEAD4	12	3120191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146324	3120191	130731704	12929	23246											
TEAD4	7004	broad.mit.edu	37	chr12	3121335	3121335	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcctctctccctgccacaGgtctccagccacatccaggt	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000397122.2	+	3	189		c.e3-1		TEAD4_ENST00000359864.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4						gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.e5-1		TEA domain family member 4							63	55	57					12																	3121335		2203	4300	6503	SO:0001630	splice_region_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3121335G>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.-96-1G>T	12.37:g.3121335G>T						TEAD4_ENST00000397122.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site		NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		5	481	+	Ovarian(42;0.211)							H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Splice_Site	SNP	ENST00000397122.2	37		CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655937	0.47467	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035;ENST00000544666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD4	2991596	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.012000	0.93624	2.468000	0.83385	0.655000	0.94253	.		0.607	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	Intron	24	132	1	0	3.65163e-15	1	3.98403e-15	24	132					T	3121335	G	T	3121335	5	4	79	1	0	0	0	0	0	0	1	0	15793	1014	35	3	301	3	TEAD4	12	3121335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1144	3121335	130730560	12930	23247											
TSPAN9	10867	broad.mit.edu	37	chr12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccattgtcatggtgaCgggcttcctcggctgcctgg	14	12	1	1	rs372946603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTCATGGTGACGGGCTTCCTC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.0					ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(199-201)aCg>aTg		tetraspanin 9							127	114	119					12																	3387723		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3387723C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.200C>T	12.37:g.3387723C>T	ENSP00000011898:p.Thr67Met					TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	361	+			67					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.200C>T	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805945	0.70682	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79653	-1.29;-1.29;-1.29	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	10	0.41790	T	0.15	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	67	O75954	TSN9_HUMAN	M	67	ENSP00000444799:T67M;ENSP00000011898:T67M;ENSP00000384488:T67M	ENSP00000011898:T67M	T	+	2	0	TSPAN9	3257984	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.985000	0.63845	2.314000	0.78098	0.561000	0.74099	ACG		0.577	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		88	397	0	0	0	1	0	88	397					T	3387723	C	T	3387723	3	4	79	1	0	0	0	0	1	0	0	0	16707	536	19	1	206	1	TSPAN9	12	3387723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266388	3387723	130464172	12931	23248											
EFCAB4B	84766	broad.mit.edu	37	chr12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctgtggggtcagatagCcattgccatcagcatccagg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000252322.1	-	5	773	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G102D	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		102	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)			GGTCAGATAGCCATTGCCATC	0.507																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(304-306)gGc>gAc		EF-hand calcium binding domain 4B							130	104	112					12																	3789439		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3789439C>T																												ENST00000252322.1:c.305G>A	12.37:g.3789439C>T	ENSP00000252322:p.Gly102Asp					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D	p.G102D	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		5	778	-			102			EF-hand 2.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.305G>A	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779219	0.90195	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	D;D;D	0.94232	-3.38;-1.77;-3.38	4.69	4.69	0.59074	EF-hand-like domain (1);	0.104583	0.64402	D	0.000004	D	0.97980	0.9335	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.99100	1.0843	10	0.87932	D	0	-32.3133	15.1607	0.72782	0.0:1.0:0.0:0.0	.	102;102;102	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	D	102	ENSP00000409382:G102D;ENSP00000412496:G102D;ENSP00000252322:G102D	ENSP00000252322:G102D	G	-	2	0	EFCAB4B	3659700	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.149000	0.77396	2.460000	0.83146	0.561000	0.74099	GGC		0.507	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			45	202	0	0	0	1	0	45	202					T	3789439	C	T	3789439	3	4	79	1	0	0	0	0	1	0	0	0	4953	739	26	2	2146	2	EFCAB4B	12	3789439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401716	3789439	130062456	12932	23249											
PARP11	57097	broad.mit.edu	37	chr12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccatcgtcttcccaaagaGattagcaacttcattatatt	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	149	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCCAAAGAGATTAGCAACT	0.353																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(466-468)Ctc>Atc		poly (ADP-ribose) polymerase family, member 11							85	91	89					12																	3931121		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3931121G>T	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.466C>A	12.37:g.3931121G>T	ENSP00000228820:p.Leu156Ile					PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I	p.L156I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		6	610	-			149			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.466C>A	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027327	0.54683	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.29	5.29	0.74685	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.068839	0.64402	D	0.000013	T	0.19604	0.0471	L	0.47716	1.5	0.43330	D	0.995366	P;P;P	0.44946	0.846;0.557;0.611	B;B;B	0.43658	0.426;0.295;0.419	T	0.01805	-1.1270	10	0.18710	T	0.47	.	16.457	0.84021	0.0:0.0:1.0:0.0	.	75;156;149	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	149;75;156;75	ENSP00000380284:L149I;ENSP00000397058:L75I;ENSP00000228820:L156I;ENSP00000405385:L75I	ENSP00000228820:L156I	L	-	1	0	PARP11	3801382	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.917000	0.63369	2.740000	0.93945	0.637000	0.83480	CTC		0.353	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			81	313	1	0	1.34917e-44	1	1.65118e-44	81	313					T	3931121	G	T	3931121	3	4	79	1	0	0	0	0	1	0	0	0	11498	942	33	3	562	3	PARP11	12	3931121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141682	3931121	129920774	12933	23250											
PARP11	57097	broad.mit.edu	37	chr12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccagccccactgggtatCtgacgtgtccatgtcatcca	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000427057.2_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	24	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGGGTATCTGACGTGTCC	0.423																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(91-93)Gat>Aat		poly (ADP-ribose) polymerase family, member 11							180	161	168					12																	3939112		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3939112C>T	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.91G>A	12.37:g.3939112C>T	ENSP00000228820:p.Asp31Asn					PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	p.D31N	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		2	235	-			24			WWE.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.91G>A	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223274	0.95139	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	WWE domain (1);	0.147781	0.64402	D	0.000013	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.07214	-1.0784	10	0.30078	T	0.28	.	16.978	0.86319	0.0:1.0:0.0:0.0	.	31;24	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	N	24;31	ENSP00000380284:D24N;ENSP00000228820:D31N	ENSP00000228820:D31N	D	-	1	0	PARP11	3809373	1.000000	0.71417	0.138000	0.22173	0.901000	0.52897	6.884000	0.75600	2.873000	0.98535	0.563000	0.77884	GAT		0.423	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			11	315	0	0	0	1	0	11	315					T	3939112	C	T	3939112	3	4	79	1	0	0	0	0	1	0	0	0	11498	913	32	2	953	2	PARP11	12	3939112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7991	3939112	129912783	12934	23251											
CCND2	894	broad.mit.edu	37	chr12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaagtgcgaagaagagGtcttccctctggccatgaat	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547			T	IGL@	"NHL,CLL"																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(226-228)Gtc>Atc		cyclin D2							73	74	74					12																	4385201		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385201G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.226G>A	12.37:g.4385201G>A	ENSP00000261254:p.Val76Ile					RP11-264F23.3_ENST00000539135.1_RNA	p.V76I	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	495	+			76			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.226G>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432156	0.83776	.	.	ENSG00000118971	ENST00000261254	T	0.18810	2.19	5.15	5.15	0.70609	Cyclin, N-terminal (2);Cyclin-like (3);	0.182655	0.47852	D	0.000210	T	0.40791	0.1131	M	0.88906	2.99	0.80722	D	1	P	0.38767	0.646	B	0.43274	0.414	T	0.49570	-0.8926	10	0.56958	D	0.05	.	17.6686	0.88210	0.0:0.0:1.0:0.0	.	76	P30279	CCND2_HUMAN	I	76	ENSP00000261254:V76I	ENSP00000261254:V76I	V	+	1	0	CCND2	4255462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.423000	0.82170	0.555000	0.69702	GTC		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		62	279	0	0	0	1	0	62	279					A	4385201	G	A	4385201	3	1	79	1	0	0	0	0	1	0	0	0	2926	1261	44	2	232	2	CCND2	12	4385201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446089	4385201	129466694	12935	23252											
CCND2	894	broad.mit.edu	37	chr12	4385275	4385275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgaagtcccatctgcaactCctgggtgctgtctgcatgtt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	100	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562			T	IGL@	"NHL,CLL"																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(298-300)ctC>ctT		cyclin D2							79	73	75					12																	4385275		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385275C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.300C>T	12.37:g.4385275C>T						RP11-264F23.3_ENST00000539135.1_RNA	p.L100L	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	569	+			100			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.300C>T	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691942	0.48097	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.15	-4.5	0.03493	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	.	5.4715	0.16672	0.0872:0.2265:0.4763:0.2101	.	.	.	.	S	16	.	.	P	+	1	0	CCND2	4255536	0.923000	0.31300	0.990000	0.47175	0.991000	0.79684	-0.030000	0.12308	-0.393000	0.07739	0.555000	0.69702	CCT		0.562	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		64	282	0	0	0	1	0	64	282					T	4385275	C	T	4385275	2	4	79	1	0	0	0	0	0	0	0	1	2926	842	30	2		2	CCND2	12	4385275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	4385275	129466620	12936	23253											
C12orf5	57103	broad.mit.edu	37	chr12	4460469	4460469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaagcgctaagtgagCtgagggccatggccaaagca	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	103					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(307-309)Ctg>Ttg		chromosome 12 open reading frame 5							106	99	101					12																	4460469		2203	4300	6503	SO:0001819	synonymous_variant	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4460469C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"TP53-induced glycolysis and apoptosis regulator"	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.307C>T	12.37:g.4460469C>T						C12orf5_ENST00000537251.1_3'UTR	p.L103L	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		5	374	+			103					B2R840	Silent	SNP	ENST00000179259.4	37	c.307C>T	CCDS8525.1																																																																																				0.478	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		39	265	0	0	0	1	0	39	265					T	4460469	C	T	4460469	2	4	79	1	0	0	0	0	0	0	0	1	1699	796	28	2		2	C12orf5	12	4460469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75194	4460469	129391426	12937	23254											
FGF23	8074	broad.mit.edu	37	chr12	4479908	4479908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgtacccgttttccagCgtctggtgttggaacctgca	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(355-357)acG>acA		fibroblast growth factor 23							103	100	101					12																	4479908		2203	4300	6503	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479908C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.357G>A	12.37:g.4479908C>T							p.T119T	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	502	-			119					Q4V758	Silent	SNP	ENST00000237837.1	37	c.357G>A	CCDS8526.1																																																																																				0.607	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			87	587	0	0	0	1	0	87	587					T	4479908	C	T	4479908	2	4	79	1	0	0	0	0	0	0	0	1	5877	755	27	1		1	FGF23	12	4479908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19439	4479908	129371987	12938	23255											
FGF23	8074	broad.mit.edu	37	chr12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctactcactgtagatggtCtgatggggtgcgccatccac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(199-201)caG>caT		fibroblast growth factor 23							159	123	135					12																	4488548		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4488548C>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.201G>T	12.37:g.4488548C>A	ENSP00000237837:p.Gln67His						p.Q67H	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		1	346	-			67					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.201G>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238805	0.58995	.	.	ENSG00000118972	ENST00000237837	D	0.81579	-1.51	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	T	0.78117	0.4233	L	0.29908	0.895	0.40241	D	0.977963	D	0.71674	0.998	D	0.64144	0.922	T	0.75703	-0.3225	10	0.34782	T	0.22	-12.1447	4.8028	0.13305	0.0:0.7419:0.0:0.2581	.	67	Q9GZV9	FGF23_HUMAN	H	67	ENSP00000237837:Q67H	ENSP00000237837:Q67H	Q	-	3	2	FGF23	4358809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.843000	0.39259	2.532000	0.85374	0.655000	0.94253	CAG		0.592	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			72	474	1	0	7.62596e-35	1	9.08233e-35	72	474					A	4488548	C	A	4488548	3	1	79	1	0	0	0	0	1	0	0	0	5877	912	32	3	566	3	FGF23	12	4488548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8640	4488548	129363347	12939	23256											
C12orf4	57102	broad.mit.edu	37	chr12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgagagattagaatgcCgtgtaatataaaattcccct	7	7	1	3	rs559422887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0					ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(1255-1257)cGg>cAg		chromosome 12 open reading frame 4							70	66	67					12																	4609488		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4609488C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1256G>A	12.37:g.4609488C>T	ENSP00000261250:p.Arg419Gln					C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	p.R419Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	11	1343	-			419					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.1256G>A	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257807	0.95368	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.85399	0.1130	9	0.72032	D	0.01	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	419	Q9NQ89	CL004_HUMAN	Q	419	.	ENSP00000261250:R419Q	R	-	2	0	C12orf4	4479749	1.000000	0.71417	0.992000	0.48379	0.793000	0.44817	7.412000	0.80091	2.658000	0.90341	0.591000	0.81541	CGG		0.383	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		25	213	0	0	0	1	0	25	213					T	4609488	C	T	4609488	3	4	79	1	0	0	0	0	1	0	0	0	1690	652	23	1	418	1	C12orf4	12	4609488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120940	4609488	129242407	12940	23257											
C12orf4	57102	broad.mit.edu	37	chr12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacttgctgggattcaaAatgctgagcagccagtgaat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(592-594)Ttt>Gtt		chromosome 12 open reading frame 4							142	135	137					12																	4634664		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4634664A>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.592T>G	12.37:g.4634664A>C	ENSP00000261250:p.Phe198Val					C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	5	679	-			198					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.592T>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614009	0.87359	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.77167	-0.2687	9	0.87932	D	0	.	15.6397	0.76989	1.0:0.0:0.0:0.0	.	198	Q9NQ89	CL004_HUMAN	V	198;198;25	.	ENSP00000261250:F198V	F	-	1	0	C12orf4	4504925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.645000	0.91049	2.150000	0.67090	0.455000	0.32223	TTT		0.318	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		57	334	0	0	0	1	0	57	334					C	4634664	A	C	4634664	3	2	79	1	0	0	0	0	1	0	0	0	1690	14	1	4	1106	4	C12orf4	12	4634664	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25176	4634664	129217231	12941	23258											
RAD51AP1	10635	broad.mit.edu	37	chr12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatccagaacagcaccaaagGagttaaaacaagataaacca	6	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000544927.1	+	3	134	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGCACCAAAGGAGTTAAAACA	0.328																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(124-126)Gag>Tag		RAD51 associated protein 1							71	71	71					12																	4652985		2203	4298	6501	SO:0001587	stop_gained	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4652985G>T	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.124G>T	12.37:g.4652985G>T	ENSP00000446296:p.Glu42*					RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000544927.1_Nonsense_Mutation_p.E42*	p.E42*	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		3	174	+			42						Nonsense_Mutation	SNP	ENST00000544927.1	37	c.124G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.934364|3.934364	0.73442|0.73442	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.575521|.	0.18618|.	N|.	0.135962|.	.|T	.|0.70378	.|0.3217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70040	.|-0.4981	.|4	0.13853|.	T|.	0.58|.	-7.1602|-7.1602	14.5515|14.5515	0.68070|0.68070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	42|36	.|.	ENSP00000228843:E42X|.	E|G	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523246|4523246	0.998000|0.998000	0.40836|0.40836	0.298000|0.298000	0.25002|0.25002	0.354000|0.354000	0.29330|0.29330	5.119000|5.119000	0.64679|0.64679	2.181000|2.181000	0.69327|0.69327	0.585000|0.585000	0.79938|0.79938	GAG|GGA		0.328	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		44	196	1	0	1.06522e-23	1	1.21267e-23	44	196					T	4652985	G	T	4652985	4	4	79	1	0	0	0	0	0	1	0	0	13036	1175	41	3	134	3	RAD51AP1	12	4652985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18321	4652985	129198910	12942	23259											
DYRK4	8798	broad.mit.edu	37	chr12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgcagatgctttcggtagaGaaaatcattcactgtgatct	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D|DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCGGTAGAGAAAATCATTC	0.458																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(670-672)gaG>gaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							132	120	124					12																	4708305		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708305G>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.672G>T	12.37:g.4708305G>T	ENSP00000441755:p.Glu224Asp					DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D|DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D	p.E224D	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	832	+			224			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.672G>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458111	0.63401	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	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	0.76111	0.3942	M	0.66939	2.045	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.888	D;P;P	0.63488	0.915;0.646;0.661	T	0.76806	-0.2823	10	0.51188	T	0.08	.	9.6876	0.40109	0.1571:0.0:0.8429:0.0	.	339;224;224	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	D	339;224;224;224	ENSP00000437534:E339D;ENSP00000441755:E224D;ENSP00000010132:E224D;ENSP00000439697:E224D	ENSP00000010132:E224D	E	+	3	2	DYRK4	4578566	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.103000	0.31062	2.467000	0.83353	0.555000	0.69702	GAG		0.458	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			80	347	1	0	1.04643e-32	1	1.23697e-32	80	347					T	4708305	G	T	4708305	3	4	79	1	0	0	0	0	1	0	0	0	4874	933	33	3	690	3	DYRK4	12	4708305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55320	4708305	129143590	12943	23260											
DYRK4	8798	broad.mit.edu	37	chr12	4714099	4714099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatacacgtacatccaaagCcggttctaccgatccccaga	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000010132.5_Silent_p.S267S|RP11-500M8.7_ENST00000536588.1_5'Flank|DYRK4_ENST00000543431.1_Silent_p.S267S|DYRK4_ENST00000545342.1_5'Flank	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACATCCAAAGCCGGTTCTACC	0.562											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(799-801)agC>agT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							61	59	60					12																	4714099		2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4714099C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.801C>T	12.37:g.4714099C>T			OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	DYRK4_ENST00000543431.1_Silent_p.S267S|DYRK4_ENST00000010132.5_Silent_p.S267S	p.S267S	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		9	961	+			267			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.801C>T	CCDS8530.1																																																																																				0.562	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			15	316	0	0	0	1	0	15	316					T	4714099	C	T	4714099	2	4	79	1	0	0	0	0	0	0	0	1	4874	738	26	2		2	DYRK4	12	4714099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5794	4714099	129137796	12944	23261											
DYRK4	8798	broad.mit.edu	37	chr12	4721773	4721773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcttggattcatcagtctCggaacctcaagccacagccc	8	14	4	0	rs374813443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4721773C>T	ENST00000540757.2	+	12	1370	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W|DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	404						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCATCAGTCTCGGAACCTCAA	0.537																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1210-1212)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4		C	TRP/ARG	0,4406		0,0,2203	103	95	98		1210	-0.5	0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	DYRK4	NM_003845.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	404/521	4721773	1,13005	2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721773C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1210C>T	12.37:g.4721773C>T	ENSP00000441755:p.Arg404Trp					DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W	p.R404W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		12	1370	+			404					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1210C>T	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.281722|1.281722	0.23392|0.23392	0.0|0.0	1.16E-4|1.16E-4	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|T	0.74737|0.71934	2.04;2.04;2.04;2.04;-0.87|-0.61	5.28|5.28	-0.478|-0.478	0.12093|0.12093	Protein kinase-like domain (1);|.	0.396379|.	0.24742|.	N|.	0.035971|.	T|T	0.63628|0.63628	0.2527|0.2527	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999999|0.999999	B;D;D;B|.	0.71674|.	0.007;0.984;0.998;0.219|.	B;B;P;B|.	0.52856|.	0.003;0.302;0.711;0.012|.	T|T	0.54166|0.54166	-0.8334|-0.8334	10|7	0.72032|0.33141	D|T	0.01|0.24	.|.	5.7225|5.7225	0.17995|0.17995	0.5772:0.2586:0.0:0.1642|0.5772:0.2586:0.0:0.1642	.|.	519;118;404;404|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	W|L	519;404;404;404;41|65	ENSP00000437534:R519W;ENSP00000441755:R404W;ENSP00000010132:R404W;ENSP00000439697:R404W;ENSP00000446005:R41W|ENSP00000438769:S65L	ENSP00000010132:R404W|ENSP00000438769:S65L	R|S	+|+	1|2	2|0	DYRK4|DYRK4	4592034|4592034	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.457000|0.457000	0.32468|0.32468	0.250000|0.250000	0.18235|0.18235	0.053000|0.053000	0.16036|0.16036	-0.152000|-0.152000	0.13540|0.13540	CGG|TCG		0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			86	467	0	0	0	1	0	86	467					T	4721773	C	T	4721773	3	4	79	1	0	0	0	0	1	0	0	0	4874	875	31	1	1248	1	DYRK4	12	4721773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7674	4721773	129130122	12945	23262											
DYRK4	8798	broad.mit.edu	37	chr12	4722727	4722727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaacaaaagatagccccacGaagcatgttcagcattcagg	8	10	2	1	rs143171709	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	DYRK4_ENST00000010132.5_Silent_p.T457T|DYRK4_ENST00000543431.1_Silent_p.T456T|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Silent_p.T94T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19597	0.0		0.0	False		,,,				2504	0.0					ENST00000540757.2																			1	Substitution - coding silent(1)	p.T858T(1)	urinary_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1369-1371)acG>acA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4		G		4,4402	8.1+/-20.4	0,4,2199	83	75	78		1371	-11.8	0	12	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	DYRK4	NM_003845.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		457/521	4722727	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722727G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1371G>A	12.37:g.4722727G>A						DYRK4_ENST00000543431.1_Silent_p.T456T|DYRK4_ENST00000010132.5_Silent_p.T457T|DYRK4_ENST00000545342.1_Silent_p.T94T	p.T457T	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1531	+			457					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1371G>A	CCDS8530.1																																																																																				0.473	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			22	269	0	0	0	1	0	22	269					A	4722727	G	A	4722727	2	1	79	1	0	0	0	0	0	0	0	1	4874	1045	37	1		1	DYRK4	12	4722727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	954	4722727	129129168	12946	23263											
AKAP3	10566	broad.mit.edu	37	chr12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcaagaaggagtcgatgaGatccgagaccacctcttttg	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	333					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAGTCGATGAGATCCGAGACC	0.483																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(997-999)Ctc>Atc		A kinase (PRKA) anchor protein 3							168	156	160					12																	4737071		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737071G>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.997C>A	12.37:g.4737071G>T	ENSP00000440994:p.Leu333Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1521	-			333					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.997C>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122344	0.77436	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.14516	2.5;2.5	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000031	T	0.40862	0.1134	M	0.78801	2.425	0.36442	D	0.865521	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.87932	D	0	-20.967	17.0413	0.86490	0.0:0.0:1.0:0.0	.	333	O75969	AKAP3_HUMAN	I	333	ENSP00000228850:L333I;ENSP00000440994:L333I	ENSP00000228850:L333I	L	-	1	0	AKAP3	4607332	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.569000	0.53827	2.828000	0.97474	0.655000	0.94253	CTC		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		42	242	1	0	1.07121e-22	1	1.21384e-22	42	242					T	4737071	G	T	4737071	3	4	79	1	0	0	0	0	1	0	0	0	452	942	33	3	1572	3	AKAP3	12	4737071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14344	4737071	129114824	12947	23264											
NDUFA9	4704	broad.mit.edu	37	chr12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcaaggccattgaggtgCtgcggcgtcatcgcacttac	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	353					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						CATTGAGGTGCTGCGGCGTCA	0.522																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1057-1059)Ctg>Atg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						109	83	92					12																	4796197		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4796197C>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1057C>A	12.37:g.4796197C>A	ENSP00000266544:p.Leu353Met					NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	p.L353M	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			11	1077	+			353					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.1057C>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776740	0.70107	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	D;D	0.85702	-1.54;-2.02	5.23	3.27	0.37495	.	0.070231	0.64402	D	0.000017	D	0.83991	0.5374	M	0.69463	2.115	0.54753	D	0.999987	D	0.63880	0.993	P	0.46975	0.533	D	0.84522	0.0628	10	0.72032	D	0.01	-10.6984	8.8668	0.35291	0.149:0.7701:0.0:0.081	.	353	Q16795	NDUA9_HUMAN	M	353;112	ENSP00000266544:L353M;ENSP00000439818:L112M	ENSP00000266544:L353M	L	+	1	2	NDUFA9	4666458	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.571000	0.36450	1.331000	0.45412	0.655000	0.94253	CTG		0.522	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		42	140	1	0	3.54909e-21	1	3.99219e-21	42	140					A	4796197	C	A	4796197	3	1	79	1	0	0	0	0	1	0	0	0	10314	796	28	3	1099	3	NDUFA9	12	4796197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59126	4796197	129055698	12948	23265											
GALNT8	26290	broad.mit.edu	37	chr12	4835936	4835936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggaagtttggttacaaCgcgtacctcagcaaccagct	9	12	1	0	rs34532073	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4835936C>T	ENST00000252318.2	+	2	787	c.450C>T	c.(448-450)aaC>aaT	p.N150N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	150					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGGTTACAACGCGTACCTCA	0.572													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		15693	0.0		0.0	False		,,,				2504	0.0				Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(448-450)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		C		33,4373	38.4+/-70.7	0,33,2170	81	74	76		450	-2.4	1	12	dbSNP_126	76	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GALNT8	NM_017417.1		0,35,6468	TT,TC,CC		0.0233,0.749,0.2691		150/638	4835936	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835936C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.450C>T	12.37:g.4835936C>T						RP11-234B24.6_ENST00000544741.2_3'UTR	p.N150N	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			2	787	+			150					B2RU02	Silent	SNP	ENST00000252318.2	37	c.450C>T	CCDS8533.1																																																																																				0.572	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		8	341	0	0	0	1	0	8	341					T	4835936	C	T	4835936	2	4	79	1	0	0	0	0	0	0	0	1	6247	535	19	1		1	GALNT8	12	4835936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39739	4835936	129015959	12949	23266											
GALNT8	26290	broad.mit.edu	37	chr12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgcctgacagaccctgGcaaggcggagaagcccacct	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	561	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGACCCTGGCAAGGCGGAG	0.448																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1681-1683)gGc>gTc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							115	110	112					12																	4874633		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874633G>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1682G>T	12.37:g.4874633G>T	ENSP00000252318:p.Gly561Val						p.G561V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2019	+			561			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1682G>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467896|1.467896	0.26335|0.26335	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000542998;ENST00000535354|ENST00000252318	.|T	.|0.35973	.|1.28	4.19|4.19	3.28|3.28	0.37604|0.37604	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57213|0.57213	0.2038|0.2038	M|M	0.79258|0.79258	2.445|2.445	0.37228|0.37228	D|D	0.905561|0.905561	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.64377|0.64377	-0.6422|-0.6422	5|10	.|0.62326	.|D	.|0.03	.|.	9.7348|9.7348	0.40382|0.40382	0.0:0.2109:0.7891:0.0|0.0:0.2109:0.7891:0.0	.|.	.|561	.|Q9NY28	.|GALT8_HUMAN	S|V	78;57|561	.|ENSP00000252318:G561V	.|ENSP00000252318:G561V	A|G	+|+	1|2	0|0	GALNT8|GALNT8	4744894|4744894	1.000000|1.000000	0.71417|0.71417	0.279000|0.279000	0.24732|0.24732	0.046000|0.046000	0.14306|0.14306	4.814000|4.814000	0.62627|0.62627	0.947000|0.947000	0.37659|0.37659	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.448	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		51	212	1	0	4.25531e-23	1	4.83061e-23	51	212					T	4874633	G	T	4874633	3	4	79	1	0	0	0	0	1	0	0	0	6247	1203	42	3	1720	3	GALNT8	12	4874633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38697	4874633	128977262	12950	23267											
GALNT8	26290	broad.mit.edu	37	chr12	4881757	4881757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggggtcagaccaacagCcagtgatcctcagatggtgc	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	636					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACCAACAGCCAGTGATCCT	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1906-1908)agC>agT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							80	73	76					12																	4881757		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4881757C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1908C>T	12.37:g.4881757C>T							p.S636S	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			11	2245	+			636					B2RU02	Silent	SNP	ENST00000252318.2	37	c.1908C>T	CCDS8533.1																																																																																				0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		25	168	0	0	0	1	0	25	168					T	4881757	C	T	4881757	2	4	79	1	0	0	0	0	0	0	0	1	6247	738	26	2		2	GALNT8	12	4881757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7124	4881757	128970138	12951	23268											
KCNA6	3742	broad.mit.edu	37	chr12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcttcttcgaccccctgagGaacgagtacttcttcgaccg	9	15	2	1	rs546055797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000280684.3	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	81					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACCCCCTGAGGAACGAGTACT	0.657										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(241-243)agG>agT		potassium voltage-gated channel, shaker-related subfamily, member 6							52	54	53					12																	4919450		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919450G>T	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.243G>T	12.37:g.4919450G>T	ENSP00000280684:p.Arg81Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R81S	p.R81S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1109	+			81						Missense_Mutation	SNP	ENST00000280684.3	37	c.243G>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	-3.05	0.05396	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.276440	0.30704	N	0.009042	T	0.80065	0.4555	M	0.67953	2.075	0.47994	D	0.999565	D	0.76494	0.999	D	0.78314	0.991	T	0.77953	-0.2394	10	0.59425	D	0.04	.	9.907	0.41381	0.1623:0.5184:0.3193:0.0	.	81	P17658	KCNA6_HUMAN	S	81	ENSP00000408321:R81S;ENSP00000280684:R81S	ENSP00000280684:R81S	R	+	3	2	KCNA6	4789711	0.994000	0.37717	0.558000	0.28319	0.993000	0.82548	0.182000	0.16900	-0.390000	0.07774	0.462000	0.41574	AGG		0.657	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		85	422	1	0	3.05217e-42	1	3.71447e-42	85	422					T	4919450	G	T	4919450	3	4	79	1	0	0	0	0	1	0	0	0	8037	1165	41	3	245	3	KCNA6	12	4919450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37693	4919450	128932445	12952	23269											
KCNA6	3742	broad.mit.edu	37	chr12	4920607	4920607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaactacttctaccaccGggagacggagcaggaggagc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4920607G>A	ENST00000280684.3	+	1	2266	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	KCNA6_ENST00000433855.1_Missense_Mutation_p.R467Q|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	467					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTCTACCACCGGGAGACGGAG	0.617										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1399-1401)cGg>cAg		potassium voltage-gated channel, shaker-related subfamily, member 6							127	117	121					12																	4920607		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920607G>A	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1400G>A	12.37:g.4920607G>A	ENSP00000280684:p.Arg467Gln	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R467Q	p.R467Q	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2266	+			467						Missense_Mutation	SNP	ENST00000280684.3	37	c.1400G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430908	0.83776	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97378	-4.36;-4.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.82630	2.6	0.58432	D	0.999998	D	0.56746	0.977	P	0.49451	0.611	D	0.97072	0.9778	10	0.38643	T	0.18	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	467	P17658	KCNA6_HUMAN	Q	467	ENSP00000408321:R467Q;ENSP00000280684:R467Q	ENSP00000280684:R467Q	R	+	2	0	KCNA6	4790868	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.565000	0.98154	2.641000	0.89580	0.591000	0.81541	CGG		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		77	333	0	0	0	1	0	77	333					A	4920607	G	A	4920607	3	1	79	1	0	0	0	0	1	0	0	0	8037	1116	39	1	1402	1	KCNA6	12	4920607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1157	4920607	128931288	12953	23270											
KCNA1	3736	broad.mit.edu	37	chr12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcccgccagggtcatcGccatcgtctccgtcatggtc	13	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622																																						ENST00000382545.3																			1	Substitution - Missense(1)	p.A170T(1)	large_intestine(1)	NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(508-510)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						81	81	81					12																	5021052		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021052G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.508G>A	12.37:g.5021052G>A	ENSP00000371985:p.Ala170Thr					KCNA1_ENST00000543874.2_Intron	p.A170T	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1615	+			170					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.508G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	KCNA1	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC		0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		67	502	0	0	0	1	0	67	502					A	5021052	G	A	5021052	3	1	79	1	0	0	0	0	1	0	0	0	8031	1087	38	1	510	1	KCNA1	12	5021052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100445	5021052	128830843	12954	23271											
KCNA1	3736	broad.mit.edu	37	chr12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgccatcgtctccgtcAtggtcatcctcatctccatc	5	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(523-525)Atg>Gtg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						90	88	89					12																	5021067		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021067A>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.523A>G	12.37:g.5021067A>G	ENSP00000371985:p.Met175Val					KCNA1_ENST00000543874.2_Intron	p.M175V	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1630	+			175					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.523A>G	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101671	0.20632	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	3.54	0.40534	.	0.040366	0.85682	D	0.000000	T	0.54870	0.1885	L	0.37850	1.14	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.51980	-0.8636	10	0.49607	T	0.09	.	11.076	0.48032	0.8442:0.1558:0.0:0.0	.	175	Q09470	KCNA1_HUMAN	V	175	ENSP00000371985:M175V	ENSP00000228858:M175V	M	+	1	0	KCNA1	4891328	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	5.838000	0.69388	0.917000	0.36895	-0.313000	0.08912	ATG		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		65	480	0	0	0	1	0	65	480					G	5021067	A	G	5021067	3	3	79	1	0	0	0	0	1	0	0	0	8031	217	8	4	525	4	KCNA1	12	5021067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15	5021067	128830828	12955	23272											
KCNA5	3741	broad.mit.edu	37	chr12	5153586	5153586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacggcctcgacggccGcctcccgaggacgaggagga	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	91					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTCGACGGCCGCCTCCCGAGG	0.731																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(271-273)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 5							10	11	11					12																	5153586		2172	4240	6412	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153586G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.273G>A	12.37:g.5153586G>A							p.P91P	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	502	+			91					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.273G>A	CCDS8536.1																																																																																				0.731	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		11	89	0	0	0	1	0	11	89					A	5153586	G	A	5153586	2	1	79	1	0	0	0	0	0	0	0	1	8036	1074	38	1		1	KCNA5	12	5153586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132519	5153586	128698309	12956	23273											
ANO2	57101	broad.mit.edu	37	chr12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcgccacactccgtcGtgtttgtttccaatttctgg	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000356134.5	-	16	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M|ANO2_ENST00000546188.1_Missense_Mutation_p.T510M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	514					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACACTCCGTCGTGTTTGTTTC	0.458																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1525-1527)aCg>aTg		anoctamin 2							114	113	113					12																	5841705		2052	4196	6248	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5841705G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1529C>T	12.37:g.5841705G>A	ENSP00000348453:p.Thr510Met					ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.T510M|ANO2_ENST00000546188.1_Missense_Mutation_p.T510M	p.T509M			Q9NQ90	ANO2_HUMAN			15	1597	-			514					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	6.554	0.470520	0.12461	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.62	-3.57	0.04612	.	1.022950	0.07770	N	0.951566	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13415	-1.0510	10	0.30854	T	0.27	.	1.7965	0.03062	0.3634:0.1684:0.3517:0.1165	.	509	Q9NQ90-3	.	M	509;510;510;514;69	ENSP00000314048:T509M;ENSP00000348453:T510M;ENSP00000440981:T510M;ENSP00000443813:T69M	ENSP00000314048:T509M	T	-	2	0	ANO2	5711966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.560000	0.06102	-0.119000	0.15052	ACG		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		34	187	0	0	0	1	0	34	187					A	5841705	G	A	5841705	3	1	79	1	0	0	0	0	1	0	0	0	697	1145	40	1	1518	1	ANO2	12	5841705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688119	5841705	128010190	12957	23274											
ANO2	57101	broad.mit.edu	37	chr12	5941725	5941725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttctgcagagccgcGctgaacttctttgcaatgct	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000356134.5	-	6	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000327087.8_Silent_p.S222S|ANO2_ENST00000546188.1_Silent_p.S223S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	227					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCAGAGCCGCGCTGAACTTCT	0.522																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(664-666)agC>agT		anoctamin 2							92	92	92					12																	5941725		2085	4227	6312	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5941725G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.669C>T	12.37:g.5941725G>A						ANO2_ENST00000356134.5_Silent_p.S223S|ANO2_ENST00000546188.1_Silent_p.S223S	p.S222S			Q9NQ90	ANO2_HUMAN			5	737	-			227					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.666C>T																																																																																					0.522	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		48	167	0	0	0	1	0	48	167					A	5941725	G	A	5941725	2	1	79	1	0	0	0	0	0	0	0	1	697	1078	38	1		1	ANO2	12	5941725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100020	5941725	127910170	12958	23275											
ANO2	57101	broad.mit.edu	37	chr12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagattgtgctcaaattcCtcccgctgctccttcctctc	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000356134.5	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000327087.8_Missense_Mutation_p.E156D|ANO2_ENST00000546188.1_Missense_Mutation_p.E156D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	160					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCAAATTCCTCCCGCTGCT	0.607																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(466-468)gaG>gaT		anoctamin 2							110	105	106					12																	6030260		2096	4228	6324	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6030260C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.468G>T	12.37:g.6030260C>A	ENSP00000348453:p.Glu156Asp					ANO2_ENST00000356134.5_Missense_Mutation_p.E156D|ANO2_ENST00000546188.1_Missense_Mutation_p.E156D	p.E156D			Q9NQ90	ANO2_HUMAN			3	539	-			160					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.468G>T		.	.	.	.	.	.	.	.	.	.	C	10.92	1.487384	0.26686	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67171	-0.25;-0.25;-0.25	4.84	0.727	0.18254	.	0.233174	0.36591	N	0.002519	T	0.45696	0.1355	L	0.29908	0.895	0.38548	D	0.949394	B	0.16603	0.018	B	0.20184	0.028	T	0.18023	-1.0350	10	0.41790	T	0.15	.	1.6431	0.02756	0.1484:0.4665:0.1359:0.2493	.	156	Q9NQ90-3	.	D	156;156;156;160	ENSP00000314048:E156D;ENSP00000348453:E156D;ENSP00000440981:E156D	ENSP00000314048:E156D	E	-	3	2	ANO2	5900521	0.879000	0.30193	0.996000	0.52242	0.849000	0.48306	-0.160000	0.10041	-0.157000	0.11059	-0.253000	0.11424	GAG		0.607	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		57	264	1	0	3.76997e-23	1	4.28119e-23	57	264					A	6030260	C	A	6030260	3	1	79	1	0	0	0	0	1	0	0	0	697	680	24	3	2624	3	ANO2	12	6030260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88535	6030260	127821635	12959	23276											
VWF	7450	broad.mit.edu	37	chr12	6125267	6125267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttactgttggacctggCggcatcagctgctgcatcca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	ENST00000261405.5	-	31	5697	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1815	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGGACCTGGCGGCATCAGCT	0.522																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5443-5445)Gcc>Acc		von Willebrand factor	Antihemophilic Factor(DB00025)						42	40	41					12																	6125267		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125267C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5443G>A	12.37:g.6125267C>T	ENSP00000261405:p.Ala1815Thr						p.A1815T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5697	-			1815			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5443G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041065	0.75732	.	.	ENSG00000110799	ENST00000261405	T	0.80304	-1.36	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000471	D	0.91274	0.7249	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92962	0.6390	10	0.87932	D	0	.	17.1259	0.86714	0.0:1.0:0.0:0.0	.	1815	P04275	VWF_HUMAN	T	1815	ENSP00000261405:A1815T	ENSP00000261405:A1815T	A	-	1	0	VWF	5995528	1.000000	0.71417	0.935000	0.37517	0.592000	0.36648	5.488000	0.66869	2.374000	0.81015	0.555000	0.69702	GCC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		41	192	0	0	0	1	0	41	192					T	6125267	C	T	6125267	3	4	79	1	0	0	0	0	1	0	0	0	17300	768	27	1	3086	1	VWF	12	6125267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95007	6125267	127726628	12960	23277											
VWF	7450	broad.mit.edu	37	chr12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaggagcagggtgatgCgggaggcttcagggcggtcg	19	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1379	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4135-4137)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						46	49	48					12																	6128448		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128448C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4136G>A	12.37:g.6128448C>T	ENSP00000261405:p.Arg1379His						p.R1379H	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4390	-			1379			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4136G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575938	0.45902	.	.	ENSG00000110799	ENST00000261405	D	0.83419	-1.72	4.98	3.13	0.36017	von Willebrand factor, type A (3);	0.328267	0.22298	N	0.061915	D	0.82852	0.5127	M	0.86420	2.815	0.28777	N	0.90008	B	0.32350	0.366	B	0.34536	0.185	T	0.77752	-0.2470	10	0.52906	T	0.07	.	6.7007	0.23223	0.0:0.6382:0.0:0.3618	.	1379	P04275	VWF_HUMAN	H	1379	ENSP00000261405:R1379H	ENSP00000261405:R1379H	R	-	2	0	VWF	5998709	0.991000	0.36638	0.371000	0.25978	0.644000	0.38419	2.269000	0.43346	0.683000	0.31428	-0.300000	0.09419	CGC		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		63	440	0	0	0	1	0	63	440					T	6128448	C	T	6128448	3	4	79	1	0	0	0	0	1	0	0	0	17300	768	27	1	4405	1	VWF	12	6128448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3181	6128448	127723447	12961	23278											
CD9	928	broad.mit.edu	37	chr12	6334663	6334663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaagagcatcttcgaGcaagaaactaataataataa	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382518.1	+	3	574	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_5'UTR|CD9_ENST00000009180.4_Silent_p.E46E			P21926	CD9_HUMAN	CD9 molecule	46					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478																																						ENST00000382518.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						c.(136-138)gaG>gaA		CD9 molecule							125	114	118					12																	6334663		2203	4300	6503	SO:0001819	synonymous_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6334663G>A	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.138G>A	12.37:g.6334663G>A						CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000382515.2_5'UTR	p.E46E			P21926	CD9_HUMAN			3	574	+			46					D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	37	c.138G>A	CCDS8540.1																																																																																				0.478	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			74	287	0	0	0	1	0	74	287					A	6334663	G	A	6334663	2	1	79	1	0	0	0	0	0	0	0	1	3055	962	34	2		2	CD9	12	6334663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206215	6334663	127517232	12962	23279											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacactttcagcatgTttgggatgccccggctgccc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000396988.3	+	4	576	c.346T>C	c.(346-348)Ttt>Ctt	p.F116L	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.F84L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTCAGCATGTTTGGGATGCC	0.632																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(250-252)Ttt>Ctt		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							95	83	87					12																	6424222		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424222T>C	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.346T>C	12.37:g.6424222T>C	ENSP00000380185:p.Phe116Leu					PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.F116L	p.F84L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			3	744	+			116					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.250T>C	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834600	0.91036	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68765	-0.24;-0.19;-0.24;-0.35	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000090	T	0.80008	0.4545	M	0.78049	2.395	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.993	D;D;D	0.72625	0.96;0.953;0.978	T	0.81876	-0.0731	10	0.62326	D	0.03	-15.716	11.008	0.47646	0.0:0.0:0.0:1.0	.	84;116;116	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	L	116;116;116;84	ENSP00000011684:F116L;ENSP00000442836:F116L;ENSP00000380185:F116L;ENSP00000393194:F84L	ENSP00000011684:F116L	F	+	1	0	PLEKHG6	6294483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.189000	0.65098	2.101000	0.63845	0.482000	0.46254	TTT		0.632	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		70	474	0	0	0	1	0	70	474					C	6424222	T	C	6424222	3	2	79	1	0	0	0	0	1	0	0	0	12116	1725	60	4	402	4	PLEKHG6	12	6424222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	89559	6424222	127427673	12963	23280											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcgctcagccctaggcGccgcacgaattccttccagc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	377	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1129-1131)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 1A							15	16	16					12																	6438717		2201	4295	6496	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438717G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1129C>T	12.37:g.6438717G>A	ENSP00000162749:p.Arg377Cys					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	p.R377C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1428	-			377			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1129C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341803	0.81911	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85773	-2.03;-2.03	4.88	3.97	0.46021	Death (3);DEATH-like (2);	0.519751	0.21185	N	0.078750	D	0.89969	0.6869	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.938;0.973	D	0.88600	0.3149	10	0.41790	T	0.15	-18.7777	11.7065	0.51599	0.0893:0.0:0.9107:0.0	.	334;377	F5H061;P19438	.;TNR1A_HUMAN	C	377;334	ENSP00000162749:R377C;ENSP00000438343:R334C	ENSP00000162749:R377C	R	-	1	0	TNFRSF1A	6308978	1.000000	0.71417	0.746000	0.31095	0.990000	0.78478	3.202000	0.51067	1.138000	0.42230	0.561000	0.74099	CGC		0.701	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		17	85	0	0	0	1	0	17	85					A	6438717	G	A	6438717	3	1	79	1	0	0	0	0	1	0	0	0	16345	1087	38	1	242	1	TNFRSF1A	12	6438717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14495	6438717	127413178	12964	23281											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcctgcagccacacaCggtgtcccggtccactgtgc	10	16	1	0	rs104895278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	124					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		21035	0.0		0.0	False		,,,				2504	0.002					ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19	GRCh37	CM065492	TNFRSF1A	M	rs104895278	c.(370-372)Gtg>Atg		tumor necrosis factor receptor superfamily, member 1A							94	90	91					12																	6442635		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6442635C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.370G>A	12.37:g.6442635C>T	ENSP00000162749:p.Val124Met					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000437813.3_5'UTR	p.V124M	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			4	669	-			124					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.370G>A	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686207	0.68157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.06	4.14	0.48551	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.203911	0.42053	D	0.000770	D	0.95999	0.8697	M	0.79475	2.455	0.41995	D	0.990861	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.917;0.961	D	0.95675	0.8727	10	0.51188	T	0.08	-12.9729	13.0176	0.58766	0.0:0.8363:0.1637:0.0	.	124;81;124	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	M	124;81;124;124;124;115	ENSP00000162749:V124M;ENSP00000438343:V81M;ENSP00000442059:V124M;ENSP00000380389:V124M;ENSP00000413224:V124M;ENSP00000442919:V115M	ENSP00000162749:V124M	V	-	1	0	TNFRSF1A	6312896	0.401000	0.25303	0.637000	0.29366	0.931000	0.56810	3.042000	0.49815	1.077000	0.40990	0.561000	0.74099	GTG		0.547	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		32	155	0	0	0	1	0	32	155					T	6442635	C	T	6442635	3	4	79	1	0	0	0	0	1	0	0	0	16345	536	19	1	1025	1	TNFRSF1A	12	6442635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3918	6442635	127409260	12965	23282											
SCNN1A	6337	broad.mit.edu	37	chr12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtatcggcttcggaaccttCggagcagcatgaggaacatg	13	9	0	1	rs545954539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					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)			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)	TCGGAACCTTCGGAGCAGCAT	0.622																																						ENST00000358945.3																			0				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						c.(1822-1824)cGa>cAa		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						53	53	53					12																	6457292		2203	4300	6503	SO:0001583	missense	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457292C>T	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.1757G>A	12.37:g.6457292C>T	ENSP00000228916:p.Arg586Gln					SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q	p.R608Q			P37088	SCNNA_HUMAN			13	2263	-			586					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1823G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			14	219	0	0	0	1	0	14	219					T	6457292	C	T	6457292	3	4	79	1	0	0	0	0	1	0	0	0	13977	884	31	1	256	1	SCNN1A	12	6457292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14657	6457292	127394603	12966	23283											
SCNN1A	6337	broad.mit.edu	37	chr12	6457894	6457894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaggcacgacctaccGtgacagagggagactcagaa	11	13	1	4	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000228916.2	-	12	1726	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					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)			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)	ACGACCTACCGTGACAGAGGG	0.537																																						ENST00000358945.3																			0				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						c.e12+1		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						131	117	122					12																	6457894		2203	4300	6503	SO:0001630	splice_region_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457894G>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.1629+1C>T	12.37:g.6457894G>A						SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Splice_Site_p.T602_splice|SCNN1A_ENST00000540037.1_Splice_Site_p.T243_splice|SCNN1A_ENST00000543768.1_Splice_Site_p.T566_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.T543_splice	p.T565_splice			P37088	SCNNA_HUMAN			12	2134	-			543					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Splice_Site	SNP	ENST00000228916.2	37	c.1695_splice	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540820	0.65085	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	.	0.087235	0.49305	D	0.000157	T	0.79275	0.4418	M	0.85299	2.745	0.46631	D	0.999132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.959;0.954	T	0.82234	-0.0558	10	0.87932	D	0	-21.3724	10.9631	0.47397	0.0:0.0:0.8132:0.1868	.	566;543;602	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	602;565;243;543;566	ENSP00000353292:T602M;ENSP00000351825:T565M;ENSP00000440876:T243M;ENSP00000228916:T543M;ENSP00000438739:T566M	ENSP00000228916:T543M	T	-	2	0	SCNN1A	6328155	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.608000	0.61141	2.331000	0.79229	0.591000	0.81541	ACG		0.537	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		Missense_Mutation	47	379	0	0	0	1	0	47	379					A	6457894	G	A	6457894	5	1	79	1	0	0	0	0	0	0	1	0	13977	1159	40	1	389	1	SCNN1A	12	6457894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602	6457894	127394001	12967	23284											
TAPBPL	55080	broad.mit.edu	37	chr12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccttctccagcctcaGgcaaagcgtggcaggcacct	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	356	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1066-1068)aGg>aTg		TAP binding protein-like							96	86	90					12																	6567973		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6567973G>T	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1067G>T	12.37:g.6567973G>T	ENSP00000266556:p.Arg356Met					TAPBPL_ENST00000545700.1_3'UTR	p.R356M	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			5	1232	+			356			Ig-like C1-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.1067G>T	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309243	0.81247	.	.	ENSG00000139192	ENST00000266556	T	0.02916	4.11	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.55990	1.75	0.47994	D	0.999564	D	0.71674	0.998	D	0.70935	0.971	T	0.00192	-1.1935	10	0.87932	D	0	-24.2099	14.6634	0.68891	0.0:0.0:1.0:0.0	.	356	Q9BX59	TPSNR_HUMAN	M	356	ENSP00000266556:R356M	ENSP00000266556:R356M	R	+	2	0	TAPBPL	6438234	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.395000	0.73228	2.603000	0.88011	0.650000	0.86243	AGG		0.597	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		60	265	1	0	1.22119e-34	1	1.45331e-34	60	265					T	6567973	G	T	6567973	3	4	79	1	0	0	0	0	1	0	0	0	15605	1000	35	3	1085	3	TAPBPL	12	6567973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110079	6567973	127283922	12968	23285											
MRPL51	51258	broad.mit.edu	37	chr12	6601500	6601500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgcgtttattaaggttGtgcaggtcatcagcgaacat	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000229238.3	-	3	785	c.324C>T	c.(322-324)caC>caT	p.H108H	MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Silent_p.H12H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	108					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(322-324)caC>caT		mitochondrial ribosomal protein L51							296	284	288					12																	6601500		2203	4300	6503	SO:0001819	synonymous_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601500G>A	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"Mitochondrial ribosomal proteins / large subunits"	14044	protein-coding gene	gene with protein product		611855	"mitochondrial ribosomal protein 64"	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.324C>T	12.37:g.6601500G>A						MRPL51_ENST00000543703.1_Silent_p.H12H|MRPL51_ENST00000543164.1_5'UTR	p.H108H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			3	785	-			108					Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	37	c.324C>T	CCDS8547.1																																																																																				0.448	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		175	892	0	0	0	1	0	175	892					A	6601500	G	A	6601500	2	1	79	1	0	0	0	0	0	0	0	1	9856	1368	48	2		2	MRPL51	12	6601500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33527	6601500	127250395	12969	23286											
NCAPD2	9918	broad.mit.edu	37	chr12	6618917	6618917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgagctcaggggcccctGgctatgctgcagcactttga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000315579.5	+	3	961	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	54	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413																																						ENST00000545962.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(85-87)tGg>tAg		non-SMC condensin I complex, subunit D2							158	161	160					12																	6618917		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6618917G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.162G>A	12.37:g.6618917G>A						NCAPD2_ENST00000315579.5_Silent_p.L54L	p.W29*			Q15021	CND1_HUMAN			3	241	+			0			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	ENST00000315579.5	37	c.86G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499784	0.44455	.	.	ENSG00000010292	ENST00000545962	.	.	.	5.41	-0.64	0.11493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9232	4.2976	0.10910	0.0708:0.1993:0.3311:0.3987	.	.	.	.	X	29	.	.	W	+	2	0	NCAPD2	6489178	0.999000	0.42202	0.948000	0.38648	0.289000	0.27227	0.731000	0.26058	0.204000	0.20548	0.555000	0.69702	TGG		0.413	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		47	960	0	0	0	1	0	47	960					A	6618917	G	A	6618917	2	1	79	1	0	0	0	0	0	0	0	1	10247	1335	47	2		2	NCAPD2	12	6618917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17417	6618917	127232978	12970	23287											
NCAPD2	9918	broad.mit.edu	37	chr12	6619865	6619865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtggatcagatagaaaCgcccatctaaatgccctcaa	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_ENST00000545962.1_Silent_p.N66N|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	111	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(331-333)aaC>aaT		non-SMC condensin I complex, subunit D2							127	122	124					12																	6619865		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6619865C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.333C>T	12.37:g.6619865C>T						NCAPD2_ENST00000545962.1_Silent_p.N66N	p.N111N	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			5	1132	+			111			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.333C>T	CCDS8548.1																																																																																				0.498	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		74	401	0	0	0	1	0	74	401					T	6619865	C	T	6619865	2	4	79	1	0	0	0	0	0	0	0	1	10247	535	19	1		1	NCAPD2	12	6619865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	948	6619865	127232030	12971	23288											
NCAPD2	9918	broad.mit.edu	37	chr12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtgtagccttgacccGttataaccatatgctcagta	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	233	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(697-699)cGt>cAt		non-SMC condensin I complex, subunit D2							177	176	176					12																	6623541		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6623541G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.698G>A	12.37:g.6623541G>A	ENSP00000325017:p.Arg233His					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	p.R233H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			7	1497	+			233			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.698G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044904	0.36085	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88896	-2.44;-2.44;-2.44	5.79	4.9	0.64082	Condensin complex, subunit 1, N-terminal (1);	0.169936	0.52532	N	0.000077	D	0.84915	0.5578	L	0.40543	1.245	0.27882	N	0.939653	B;B;B	0.30146	0.078;0.27;0.142	B;B;B	0.37989	0.014;0.262;0.056	T	0.74057	-0.3787	10	0.17832	T	0.49	-5.5111	11.5501	0.50716	0.154:0.0:0.846:0.0	.	188;194;233	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	233;105;188;105	ENSP00000325017:R233H;ENSP00000371895:R105H;ENSP00000444417:R188H	ENSP00000325017:R233H	R	+	2	0	NCAPD2	6493802	0.998000	0.40836	0.034000	0.17996	0.901000	0.52897	4.150000	0.58098	1.451000	0.47736	0.643000	0.83706	CGT		0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		96	977	0	0	0	1	0	96	977					A	6623541	G	A	6623541	3	1	79	1	0	0	0	0	1	0	0	0	10247	1145	40	1	720	1	NCAPD2	12	6623541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3676	6623541	127228354	12972	23289											
NCAPD2	9918	broad.mit.edu	37	chr12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactgcagaaggagacccaGaaattacaagagatgagggc	12	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	455	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1363-1365)caG>caT		non-SMC condensin I complex, subunit D2							85	86	86					12																	6626806		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626806G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1365G>T	12.37:g.6626806G>T	ENSP00000325017:p.Gln455His					NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	p.Q455H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			12	2164	+			455			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1365G>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880287	0.72294	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08720	3.06;3.06;3.06	5.49	4.6	0.57074	Armadillo-type fold (1);	0.348665	0.33959	N	0.004393	T	0.12433	0.0302	L	0.27053	0.805	0.42037	D	0.991051	D;P;P	0.54397	0.966;0.747;0.943	P;P;P	0.53809	0.735;0.497;0.547	T	0.05954	-1.0854	10	0.45353	T	0.12	-16.3621	14.1457	0.65349	0.0727:0.0:0.9273:0.0	.	410;416;455	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	455;327;410;327	ENSP00000325017:Q455H;ENSP00000371895:Q327H;ENSP00000444417:Q410H	ENSP00000325017:Q455H	Q	+	3	2	NCAPD2	6497067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	1.323000	0.45263	0.561000	0.74099	CAG		0.478	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		51	231	1	0	7.77372e-23	1	8.81276e-23	51	231					T	6626806	G	T	6626806	3	4	79	1	0	0	0	0	1	0	0	0	10247	933	33	3	1407	3	NCAPD2	12	6626806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3265	6626806	127225089	12973	23290											
NCAPD2	9918	broad.mit.edu	37	chr12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagaggcagaactaatcCgtggcatctgcgagatggaa	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493																																						ENST00000315579.5																			1	Substitution - Missense(1)	p.R997C(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2989-2991)Cgt>Tgt		non-SMC condensin I complex, subunit D2							132	132	132					12																	6637024		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637024C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	12.37:g.6637024C>T	ENSP00000325017:p.Arg997Cys					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	p.R997C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			23	3788	+			997					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2989C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		125	637	0	0	0	1	0	125	637					T	6637024	C	T	6637024	3	4	79	1	0	0	0	0	1	0	0	0	10247	652	23	1	3075	1	NCAPD2	12	6637024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10218	6637024	127214871	12974	23291											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|RP5-940J5.8_ENST00000499202.2_RNA|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	531						8	531	---	---	---	---	-	6649706	GGC	-	6649704	7	5	79	1	0	1	0	1	0	0	0	0	7540	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-IB-7651-01A-11D-2154-08	12680	6649704	127202191	12975	23292											
IFFO1	25900	broad.mit.edu	37	chr12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcatgcaccttggCcaggaagcagcggaaccgga	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000396840.2	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_ENST00000336604.4_Missense_Mutation_p.A89T|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	89						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(265-267)Gcc>Acc		intermediate filament family orphan 1							42	45	44					12																	6664931		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664931C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.265G>A	12.37:g.6664931C>T	ENSP00000380052:p.Ala89Thr					IFFO1_ENST00000396840.2_Missense_Mutation_p.A89T|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T	p.A89T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	306	-			89					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.281834	0.95489	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.95980	-3.87;-3.87;-3.87	4.22	4.22	0.49857	.	0.254984	0.23266	N	0.050068	D	0.94551	0.8245	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	D	0.95380	0.8472	10	0.87932	D	0	-16.8933	15.5044	0.75725	0.0:1.0:0.0:0.0	.	89;89;89;89	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	89	ENSP00000337593:A89T;ENSP00000380052:A89T;ENSP00000349364:A89T	ENSP00000337593:A89T	A	-	1	0	IFFO1	6535192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.614000	0.74197	2.172000	0.68678	0.561000	0.74099	GCC		0.687	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		37	299	0	0	0	1	0	37	299					T	6664931	C	T	6664931	3	4	79	1	0	0	0	0	1	0	0	0	7540	739	26	2	1466	2	IFFO1	12	6664931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15227	6664931	127186964	12976	23293											
NOP2	4839	broad.mit.edu	37	chr12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgttggtgactcccagccGatgcaagttgcccacaacac	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000322166.5	-	12	1412	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	431					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTCCCAGCCGATGCAAGTTG	0.547																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1279-1281)Cgg>Tgg		NOP2 nucleolar protein							66	71	69					12																	6670153		2123	4231	6354	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6670153G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1291C>T	12.37:g.6670153G>A	ENSP00000313272:p.Arg431Trp					NOP2_ENST00000322166.5_Missense_Mutation_p.R431W|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W	p.R427W			P46087	NOP2_HUMAN			12	1767	-			431					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1279C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335701	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71656	0.929;0.974	D	0.87916	0.2700	10	0.87932	D	0	-25.0293	16.0388	0.80650	0.0:0.0:0.8645:0.1355	.	427;427	Q05BA7;P46087-2	.;.	W	431;464;427;427;431;427	ENSP00000444437:R431W;ENSP00000371858:R464W;ENSP00000439422:R427W;ENSP00000382392:R427W;ENSP00000313272:R431W;ENSP00000443150:R427W	ENSP00000313272:R431W	R	-	1	2	NOP2	6540414	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.498000	0.66931	1.391000	0.46566	-0.181000	0.13052	CGG		0.547	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		38	140	0	0	0	1	0	38	140					A	6670153	G	A	6670153	3	1	79	1	0	0	0	0	1	0	0	0	10580	1057	37	1	1167	1	NOP2	12	6670153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5222	6670153	127181742	12977	23294											
CHD4	1108	broad.mit.edu	37	chr12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccgctcttcattctgCcaaagggagtgcaactctga	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000357008.2	-	36	5299	c.5136G>A	c.(5134-5136)tgG>tgA	p.W1712*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1712	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTTCATTCTGCCAAAGGGAGT	0.488																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(5218-5220)tgG>tgA		chromodomain helicase DNA binding protein 4							79	74	76					12																	6687287		2203	4300	6503	SO:0001587	stop_gained	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6687287C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5136G>A	12.37:g.6687287C>T	ENSP00000349508:p.Trp1712*					CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.W1712*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*	p.W1740*			Q14839	CHD4_HUMAN			35	5383	-			1712			Required for interaction with PCNT.		Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.5220G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	47	13.235734	0.99729	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	X	1737;1705;1740;1712;1686	.	ENSP00000312419:W1740X	W	-	3	0	CHD4	6557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	TGG		0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		73	282	0	0	0	1	0	73	282					T	6687287	C	T	6687287	4	4	79	1	0	0	0	0	0	1	0	0	3336	740	26	2	622	2	CHD4	12	6687287	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17134	6687287	127164608	12978	23295											
CHD4	1108	broad.mit.edu	37	chr12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttggggagggtgaccctgGctgggacatcttcttgtttt	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000357008.2	-	31	4760	c.4597C>A	c.(4597-4599)Cca>Aca	p.P1533T	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4681-4683)Cca>Aca		chromodomain helicase DNA binding protein 4							194	186	189					12																	6690899		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690899G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4597C>A	12.37:g.6690899G>T	ENSP00000349508:p.Pro1533Thr					CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000357008.2_Missense_Mutation_p.P1533T|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T	p.P1561T			Q14839	CHD4_HUMAN			30	4844	-			1533					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4681C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664373	0.47572	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.58;-2.56	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.85392	0.5686	L	0.54323	1.7	0.58432	D	0.999997	B;B;P	0.36535	0.435;0.001;0.557	B;B;B	0.35971	0.116;0.002;0.215	T	0.82180	-0.0585	10	0.15066	T	0.55	-4.4237	14.78	0.69760	0.0:0.0:0.8557:0.1442	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1558;1526;1561;1533;1507	ENSP00000440392:P1558T;ENSP00000440542:P1526T;ENSP00000312419:P1561T;ENSP00000349508:P1533T	ENSP00000312419:P1561T	P	-	1	0	CHD4	6561160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.726000	0.93360	0.655000	0.94253	CCA		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		79	419	1	0	1.45978e-39	1	1.7657e-39	79	419					T	6690899	G	T	6690899	3	4	79	1	0	0	0	0	1	0	0	0	3336	1203	42	3	1181	3	CHD4	12	6690899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	6690899	127160996	12979	23296											
CHD4	1108	broad.mit.edu	37	chr12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggtcaatggcctcttgcCgcatgttcccagtgattcca	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000357008.2	-	22	3477	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3313-3315)cGg>cAg		chromodomain helicase DNA binding protein 4							175	147	156					12																	6700658		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700658C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3314G>A	12.37:g.6700658C>T	ENSP00000349508:p.Arg1105Gln					CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q	p.R1105Q			Q14839	CHD4_HUMAN			22	3477	-			1105			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3314G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759737	0.89932	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.964	D	0.98797	1.0738	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1102;1098;1105;1105;1079	ENSP00000440392:R1102Q;ENSP00000440542:R1098Q;ENSP00000312419:R1105Q;ENSP00000349508:R1105Q	ENSP00000312419:R1105Q	R	-	2	0	CHD4	6570919	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	CGG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		74	329	0	0	0	1	0	74	329					T	6700658	C	T	6700658	3	4	79	1	0	0	0	0	1	0	0	0	3336	652	23	1	2500	1	CHD4	12	6700658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9759	6700658	127151237	12980	23297											
CHD4	1108	broad.mit.edu	37	chr12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaactcttccagattgtTttgtaatggtgtcccagtca	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000357008.2	-	18	2882	c.2719A>C	c.(2719-2721)Aac>Cac	p.N907H	CHD4_ENST00000309577.6_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000544484.1_Missense_Mutation_p.N904H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	907	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCAGATTGTTTTGTAATGGT	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2719-2721)Aac>Cac		chromodomain helicase DNA binding protein 4							118	118	118					12																	6701917		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701917T>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2719A>C	12.37:g.6701917T>G	ENSP00000349508:p.Asn907His					CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000357008.2_Missense_Mutation_p.N907H|CHD4_ENST00000544484.1_Missense_Mutation_p.N904H	p.N907H			Q14839	CHD4_HUMAN			18	2882	-			907			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2719A>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371176	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.99509	1.0955	10	0.87932	D	0	23.5174	15.9051	0.79423	0.0:0.0:0.0:1.0	.	907;907;900	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	904;900;907;907;881	ENSP00000440392:N904H;ENSP00000440542:N900H;ENSP00000312419:N907H;ENSP00000349508:N907H	ENSP00000312419:N907H	N	-	1	0	CHD4	6572178	1.000000	0.71417	0.935000	0.37517	0.920000	0.55202	8.013000	0.88655	2.151000	0.67156	0.455000	0.32223	AAC		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		16	377	0	0	0	1	0	16	377					G	6701917	T	G	6701917	3	3	79	1	0	0	0	0	1	0	0	0	3336	1841	64	4	3111	4	CHD4	12	6701917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1259	6701917	127149978	12981	23298											
CHD4	1108	broad.mit.edu	37	chr12	6707221	6707221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggctcatccatatcattCttccgctgatagtttcggaa	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000357008.2	-	12	1894	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K|CHD4_ENST00000544484.1_Silent_p.K574K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	577	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1729-1731)aaG>aaA		chromodomain helicase DNA binding protein 4							155	156	155					12																	6707221		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707221C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1731G>A	12.37:g.6707221C>T						CHD4_ENST00000544040.1_Silent_p.K570K|CHD4_ENST00000357008.2_Silent_p.K577K|CHD4_ENST00000544484.1_Silent_p.K574K	p.K577K			Q14839	CHD4_HUMAN			12	1894	-			577			Chromo 1.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.1731G>A	CCDS8552.1																																																																																				0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		184	733	0	0	0	1	0	184	733					T	6707221	C	T	6707221	2	4	79	1	0	0	0	0	0	0	0	1	3336	912	32	2		2	CHD4	12	6707221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5304	6707221	127144674	12982	23299											
LPAR5	57121	broad.mit.edu	37	chr12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccatcaccatcagcaCcccgcgcacgcgatcgcggg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(832-834)Gtg>Atg		lysophosphatidic acid receptor 5							13	15	14					12																	6729583		2195	4284	6479	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729583C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.832G>A	12.37:g.6729583C>T	ENSP00000327875:p.Val278Met					LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	1588	-			278						Missense_Mutation	SNP	ENST00000329858.4	37	c.832G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947639	0.18356	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.38560	1.13;1.13	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.251014	0.27831	N	0.017662	T	0.49949	0.1587	L	0.48260	1.515	0.23314	N	0.997925	D	0.76494	0.999	D	0.71184	0.972	T	0.34453	-0.9828	10	0.18710	T	0.47	.	8.7994	0.34898	0.0:0.7683:0.1522:0.0795	.	278	Q9H1C0	LPAR5_HUMAN	M	278	ENSP00000327875:V278M;ENSP00000393098:V278M	ENSP00000327875:V278M	V	-	1	0	LPAR5	6599844	0.049000	0.20398	0.787000	0.31911	0.365000	0.29674	3.192000	0.50989	1.232000	0.43678	0.491000	0.48974	GTG		0.692	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		14	94	0	0	0	1	0	14	94					T	6729583	C	T	6729583	3	4	79	1	0	0	0	0	1	0	0	0	8946	507	18	2	290	2	LPAR5	12	6729583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22362	6729583	127122312	12983	23300											
LPAR5	57121	broad.mit.edu	37	chr12	6730346	6730346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagaccaccaagtgcagGcggtgggtaggtcggtagtc	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.R23R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(67-69)cgC>cgT		lysophosphatidic acid receptor 5							122	104	110					12																	6730346		2203	4300	6503	SO:0001819	synonymous_variant	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6730346G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.69C>T	12.37:g.6730346G>A						LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.R23R	p.R23R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	825	-			23						Silent	SNP	ENST00000329858.4	37	c.69C>T	CCDS8553.1																																																																																				0.632	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		16	83	0	0	0	1	0	16	83					A	6730346	G	A	6730346	2	1	79	1	0	0	0	0	0	0	0	1	8946	1190	42	2		2	LPAR5	12	6730346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	763	6730346	127121549	12984	23301											
ACRBP	84519	broad.mit.edu	37	chr12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaagggttagaagatagaGattcagagtgaaacttgggc	15	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGAAGATAGAGATTCAGAGTG	0.517																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(778-780)tCt>tAt		acrosin binding protein							186	157	167					12																	6753468		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753468G>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.779C>A	12.37:g.6753468G>T	ENSP00000229243:p.Ser260Tyr					ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y	p.S260Y	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	872	-			260						Missense_Mutation	SNP	ENST00000229243.2	37	c.779C>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	2.439	-0.329000	0.05314	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.52057	0.68;0.79	3.48	1.42	0.22433	.	0.652572	0.14230	N	0.332834	T	0.35008	0.0917	L	0.54323	1.7	0.09310	N	1	B;B	0.26935	0.047;0.164	B;B	0.21917	0.037;0.037	T	0.23261	-1.0193	10	0.12766	T	0.61	-6.0415	6.3572	0.21408	0.2096:0.0:0.7904:0.0	.	227;260	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	260;227;260	ENSP00000229243:S260Y;ENSP00000402725:S227Y	ENSP00000229243:S260Y	S	-	2	0	ACRBP	6623729	0.036000	0.19791	0.001000	0.08648	0.187000	0.23431	1.590000	0.36654	0.348000	0.23949	0.491000	0.48974	TCT		0.517	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		12	250	1	0	0.000978159	1	0.000988919	12	250					T	6753468	G	T	6753468	3	4	79	1	0	0	0	0	1	0	0	0	170	942	33	3	876	3	ACRBP	12	6753468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23122	6753468	127098427	12985	23302											
MLF2	8079	broad.mit.edu	37	chr12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcaggtccctggatggCcaggcggggaggcccctccg	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	231					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(691-693)Gcc>Acc		myeloid leukemia factor 2							33	39	37					12																	6858017		2199	4290	6489	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858017C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.691G>A	12.37:g.6858017C>T	ENSP00000203630:p.Ala231Thr					MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T	p.A231T			Q15773	MLF2_HUMAN			8	1335	-			231						Missense_Mutation	SNP	ENST00000203630.5	37	c.691G>A	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048903	0.75846	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.246438	0.40554	N	0.001074	T	0.44329	0.1288	N	0.24115	0.695	0.52501	D	0.999955	P	0.51791	0.948	P	0.45610	0.487	T	0.26677	-1.0096	9	0.17369	T	0.5	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	231	Q15773	MLF2_HUMAN	T	231	.	ENSP00000203630:A231T	A	-	1	0	MLF2	6728278	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.062000	0.64326	2.365000	0.80145	0.491000	0.48974	GCC		0.682	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			79	397	0	0	0	1	0	79	397					T	6858017	C	T	6858017	3	4	79	1	0	0	0	0	1	0	0	0	9657	739	26	2	59	2	MLF2	12	6858017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104549	6858017	126993878	12986	23303											
CD4	920	broad.mit.edu	37	chr12	6925373	6925373	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaagtcttggatcacCtttgacctgaagaacaagga	8	11	2	3	rs200065570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000011653.4	+	6	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	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	253	Ig-like C2-type 2.				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)			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)	CTTGGATCACCTTTGACCTGA	0.572																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(757-759)acC>acA		CD4 molecule							143	124	130					12																	6925373		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.chr12:6925373C>A	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.759C>A	12.37:g.6925373C>A						CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	p.T253T	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			6	1017	+		Myeloproliferative disorder(1001;0.0122)	253			Ig-like C2-type 2.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.759C>A	CCDS8562.1																																																																																				0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		139	681	1	0	3.42316e-88	1	4.39067e-88	139	681					A	6925373	C	A	6925373	2	1	79	1	0	0	0	0	0	0	0	1	3023	668	24	3		3	CD4	12	6925373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	6925373	126926522	12987	23304											
CD4	920	broad.mit.edu	37	chr12	6927707	6927707	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggtgccggcaccgaaGggtgagtaaccccacacctg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		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	426					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)			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)	CGGCACCGAAGGGTGAGTAAC	0.602																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.e8+1		CD4 molecule							59	57	58					12																	6927707		2203	4300	6503	SO:0001630	splice_region_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.chr12:6927707G>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.1278+1G>T	12.37:g.6927707G>T							p.R426_splice	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			8	1535	+		Myeloproliferative disorder(1001;0.0122)	426					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Splice_Site	SNP	ENST00000011653.4	37	c.1278_splice	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606016	0.46527	.	.	ENSG00000010610	ENST00000011653	T	0.29655	1.56	4.23	2.16	0.27623	T cell CD4 receptor C-terminal region (1);	0.338377	0.29073	N	0.013235	T	0.47673	0.1458	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.975	T	0.43130	-0.9410	10	0.49607	T	0.09	-17.5898	3.7669	0.08626	0.1334:0.0:0.6051:0.2615	.	247;426	B0AZV7;P01730	.;CD4_HUMAN	M	426	ENSP00000011653:R426M	ENSP00000011653:R426M	R	+	2	0	CD4	6797968	0.291000	0.24352	0.793000	0.32043	0.522000	0.34438	0.157000	0.16402	0.944000	0.37579	0.561000	0.74099	AGG		0.602	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	Missense_Mutation	45	233	1	0	3.86236e-30	1	4.52529e-30	45	233					T	6927707	G	T	6927707	5	4	79	1	0	0	0	0	0	0	1	0	3023	1014	35	3	1303	3	CD4	12	6927707	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2334	6927707	126924188	12988	23305											
CD4	920	broad.mit.edu	37	chr12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagacatgtagccccAtttgaggcacgaggccaggc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	GPR162_ENST00000311268.3_5'Flank|GPR162_ENST00000428545.2_5'Flank|GPR162_ENST00000382315.3_5'Flank	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	458					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)			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)	ATGTAGCCCCATTTGAGGCAC	0.597																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1372-1374)Att>Gtt		CD4 molecule							173	150	158					12																	6928490		2203	4300	6503	SO:0001583	missense	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.chr12:6928490A>G	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.1372A>G	12.37:g.6928490A>G	ENSP00000011653:p.Ile458Val						p.I458V	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			10	1630	+		Myeloproliferative disorder(1001;0.0122)	458					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1372A>G	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832811	0.50951	.	.	ENSG00000010610	ENST00000011653	T	0.22743	1.94	3.95	-3.52	0.04682	.	1.485190	0.04117	N	0.315664	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.011;0.026	T	0.41627	-0.9498	10	0.62326	D	0.03	-16.945	8.6422	0.33983	0.2449:0.6549:0.1002:0.0	.	279;458	B0AZV7;P01730	.;CD4_HUMAN	V	458	ENSP00000011653:I458V	ENSP00000011653:I458V	I	+	1	0	CD4	6798751	0.009000	0.17119	0.000000	0.03702	0.400000	0.30750	0.360000	0.20250	-0.621000	0.05633	0.454000	0.30748	ATT		0.597	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		112	632	0	0	0	1	0	112	632					G	6928490	A	G	6928490	3	3	79	1	0	0	0	0	1	0	0	0	3023	217	8	4	1406	4	CD4	12	6928490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	783	6928490	126923405	12989	23306											
LEPREL2	2784	broad.mit.edu	37	chr12	6946916	6946916	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagcaagagcagcgcatgGacctgagtcacccagtgcac	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6946916G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCAGCGCATGGACCTGAGTCA	0.647																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							33	40	38					12																	6946916		2131	4244	6375	SO:0001631	upstream_gene_variant	10536							g.chr12:6946916G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946916G>A	Exception_encountered					LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	1765	+								Q96B71|Q9BQC0	RNA	SNP	ENST00000229264.3	37		CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488080	0.96323	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.68903	-0.36;-0.36	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.109415	0.64402	D	0.000002	D	0.82852	0.5127	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	9	0.87932	D	0	-15.8397	17.8129	0.88622	0.0:0.0:1.0:0.0	.	578	Q8IVL6	P3H3_HUMAN	N	577;393	ENSP00000379951:D577N;ENSP00000290510:D393N	ENSP00000290510:D393N	D	+	1	0	LEPREL2	6817177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.434000	0.82447	0.561000	0.74099	GAC		0.647	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		16	75	0	0	0	1	0	16	75					A	6946916	G	A	6946916	1	1	79	0	1	0	0	0	0	0	0	0	8762	1174	41	2		2	LEPREL2	12	6946916	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18426	6946916	126904979	12990	23307											
GNB3	2784	broad.mit.edu	37	chr12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagatttacgccatgcaCtgggccactgattctaagtg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	62					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(184-186)caC>caA		guanine nucleotide binding protein (G protein), beta polypeptide 3							118	108	111					12																	6952223		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952223C>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.186C>A	12.37:g.6952223C>A	ENSP00000229264:p.His62Gln					GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q	p.H62Q	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			5	591	+			62					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.186C>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649411	0.67358	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.26	2.4	0.29515	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.45078	0.85;0.542	P;B	0.46275	0.51;0.248	T	0.28964	-1.0027	10	0.40728	T	0.16	-13.0059	10.6396	0.45586	0.0:0.7865:0.0:0.2135	.	62;62	E9PCP0;P16520	.;GBB3_HUMAN	Q	62	ENSP00000229264:H62Q;ENSP00000442002:H62Q;ENSP00000414734:H62Q;ENSP00000445967:H62Q	ENSP00000229264:H62Q	H	+	3	2	GNB3	6822484	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	0.606000	0.29965	0.491000	0.48974	CAC		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		55	269	1	0	9.52127e-25	1	1.09014e-24	55	269					A	6952223	C	A	6952223	3	1	79	1	0	0	0	0	1	0	0	0	6548	564	20	3	196	3	GNB3	12	6952223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5307	6952223	126899672	12991	23308											
CDCA3	83461	broad.mit.edu	37	chr12	6958344	6958344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactaacattttcacttaGgggtgaaggccgcttaccct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000538862.2	-	6	1571	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000535406.1_Silent_p.L224L|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000229265.6_Silent_p.L199L|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000604599.1_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	224					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512																																						ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(670-672)Cta>Tta		cell division cycle associated 3							83	72	76					12																	6958344		2203	4300	6503	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958344G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.670C>T	12.37:g.6958344G>A						CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000229265.6_Silent_p.L199L|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000535406.1_Silent_p.L224L	p.L224L			Q99618	CDCA3_HUMAN			6	1571	-			224					A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.670C>T	CCDS8565.1																																																																																				0.512	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		20	192	0	0	0	1	0	20	192					A	6958344	G	A	6958344	2	1	79	1	0	0	0	0	0	0	0	1	3096	991	35	2		2	CDCA3	12	6958344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6121	6958344	126893551	12992	23309											
USP5	8078	broad.mit.edu	37	chr12	6970734	6970734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggggcccctgagcaggtCgatgacttctggagcacggc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.V542V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	542	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1624-1626)gtC>gtT		ubiquitin specific peptidase 5 (isopeptidase T)							49	51	50					12																	6970734		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970734C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1626C>T	12.37:g.6970734C>T						USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	p.V542V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			13	1678	+			542					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.1626C>T	CCDS41743.1																																																																																				0.622	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			42	348	0	0	0	1	0	42	348					T	6970734	C	T	6970734	2	4	79	1	0	0	0	0	0	0	0	1	17135	871	31	1		1	USP5	12	6970734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12390	6970734	126881161	12993	23310											
TPI1	7167	broad.mit.edu	37	chr12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgcggccaaggtgccgGccgacaccggtaagccctcg	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000396705.5_Missense_Mutation_p.A36T|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	73					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716																																						ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(217-219)Gcc>Acc		triosephosphate isomerase 1							12	14	14					12																	6976836		2186	4279	6465	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976836G>A		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.217G>A	12.37:g.6976836G>A	ENSP00000229270:p.Ala73Thr					TPI1_ENST00000396705.5_Missense_Mutation_p.A36T	p.A73T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			1	554	+			36		G -> A (in TPI deficiency).			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.217G>A	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878122	0.51801	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.93953	-3.32;-3.32	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);	0.146358	0.45361	U	0.000372	D	0.89427	0.6712	L	0.39397	1.21	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	D	0.84739	0.0750	10	0.27082	T	0.32	.	14.7388	0.69437	0.0:0.0:0.8539:0.1461	.	73	P60174	TPIS_HUMAN	T	73;36	ENSP00000229270:A73T;ENSP00000379933:A36T	ENSP00000229270:A73T	A	+	1	0	TPI1	6847097	0.941000	0.31946	0.994000	0.49952	0.592000	0.36648	1.613000	0.36900	1.156000	0.42514	-0.357000	0.07601	GCC		0.716	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		34	117	0	0	0	1	0	34	117					A	6976836	G	A	6976836	3	1	79	1	0	0	0	0	1	0	0	0	16456	1203	42	2	219	2	TPI1	12	6976836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6102	6976836	126875059	12994	23311											
TPI1	7167	broad.mit.edu	37	chr12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgaattcgtggacaTcatcaatgccaaacaatgag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	281				I -> L (in Ref. 11; AA sequence). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(841-843)aTc>aGc		triosephosphate isomerase 1							86	75	79					12																	6979528		2203	4297	6500	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979528T>G		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.842T>G	12.37:g.6979528T>G	ENSP00000229270:p.Ile281Ser		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S	p.I281S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			7	1179	+			244					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.842T>G	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687550	0.88639	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.96073	-3.9;-3.9;-3.9	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.98738	0.9576	H	0.98936	4.375	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99581	1.0973	10	0.87932	D	0	.	15.392	0.74751	0.0:0.0:0.0:1.0	.	281	P60174	TPIS_HUMAN	S	281;244;162	ENSP00000229270:I281S;ENSP00000379933:I244S;ENSP00000443599:I162S	ENSP00000229270:I281S	I	+	2	0	TPI1	6849789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.117000	0.64856	0.459000	0.35465	ATC		0.577	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		34	213	0	0	0	1	0	34	213					G	6979528	T	G	6979528	3	3	79	1	0	0	0	0	1	0	0	0	16456	1435	50	4	868	4	TPI1	12	6979528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2692	6979528	126872367	12995	23312											
ATN1	1822	broad.mit.edu	37	chr12	7045789	7045789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctatggccgcctcttagcCaacagcaatgcccatccagg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	453					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTCTTAGCCAACAGCAATG	0.622																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1357-1359)gcC>gcA		atrophin 1							157	157	157					12																	7045789		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045789C>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1359C>A	12.37:g.7045789C>A						ATN1_ENST00000396684.2_Silent_p.A453A	p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1596	+			453					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1359C>A	CCDS31734.1																																																																																				0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		264	1303	1	0	5.60598e-63	1	7.07121e-63	264	1303					A	7045789	C	A	7045789	2	1	79	1	0	0	0	0	0	0	0	1	1112	581	21	3		3	ATN1	12	7045789	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66261	7045789	126806106	12996	23313											
ATN1	1822	broad.mit.edu	37	chr12	7045981	7045981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggagcatttccccaCccactggagggcggtagctc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	517	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CATTTCCCCACCCACTGGAGG	0.657																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1549-1551)caC>caT		atrophin 1							66	68	67					12																	7045981		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045981C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1551C>T	12.37:g.7045981C>T						ATN1_ENST00000396684.2_Silent_p.H517H	p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1788	+			517			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1551C>T	CCDS31734.1																																																																																				0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		118	631	0	0	0	1	0	118	631					T	7045981	C	T	7045981	2	4	79	1	0	0	0	0	0	0	0	1	1112	506	18	2		2	ATN1	12	7045981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	7045981	126805914	12997	23314											
ATN1	1822	broad.mit.edu	37	chr12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacagccaggtgtcctacaGccaagcaggccccaatggcc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	559	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGTCCTACAGCCAAGCAGGC	0.622																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1675-1677)aGc>aTc		atrophin 1							127	104	112					12																	7046106		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046106G>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1676G>T	12.37:g.7046106G>T	ENSP00000349076:p.Ser559Ile					ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1913	+			559			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1676G>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	7.124	0.578461	0.13686	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55930	0.49;0.49;0.49	3.46	2.53	0.30540	.	0.187035	0.25753	U	0.028527	T	0.33440	0.0863	N	0.22421	0.69	0.33143	D	0.544626	B	0.09022	0.002	B	0.11329	0.006	T	0.30060	-0.9991	10	0.33141	T	0.24	.	6.7927	0.23709	0.0942:0.0:0.7335:0.1723	.	559	P54259	ATN1_HUMAN	I	559;559;559;144	ENSP00000349076:S559I;ENSP00000379915:S559I;ENSP00000441744:S559I	ENSP00000229279:S144I	S	+	2	0	ATN1	6916367	0.978000	0.34361	1.000000	0.80357	0.608000	0.37181	1.073000	0.30691	0.751000	0.32900	0.586000	0.80456	AGC		0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		108	448	1	0	6.46527e-39	1	7.80444e-39	108	448					T	7046106	G	T	7046106	3	4	79	1	0	0	0	0	1	0	0	0	1112	971	34	3	1690	3	ATN1	12	7046106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	7046106	126805789	12998	23315											
ATN1	1822	broad.mit.edu	37	chr12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaccgcctcaagcctgGctttgaggtgaagcctagtg	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	949					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCAAGCCTGGCTTTGAGGTG	0.647																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2845-2847)gGc>gAc		atrophin 1							50	58	55					12																	7047972		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047972G>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2846G>A	12.37:g.7047972G>A	ENSP00000349076:p.Gly949Asp					ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3083	+			949					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2846G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838724	0.91117	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.52295	0.67;0.67;0.67	4.91	4.91	0.64330	.	0.000000	0.34603	U	0.003829	T	0.67590	0.2909	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69499	-0.5129	10	0.66056	D	0.02	.	18.7426	0.91779	0.0:0.0:1.0:0.0	.	949	P54259	ATN1_HUMAN	D	949;949;949;534	ENSP00000349076:G949D;ENSP00000379915:G949D;ENSP00000441744:G949D	ENSP00000229279:G534D	G	+	2	0	ATN1	6918233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.235000	0.95353	2.731000	0.93534	0.650000	0.86243	GGC		0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		74	436	0	0	0	1	0	74	436					A	7047972	G	A	7047972	3	1	79	1	0	0	0	0	1	0	0	0	1112	1203	42	2	2868	2	ATN1	12	7047972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1866	7047972	126803923	12999	23316											
PTPN6	5777	broad.mit.edu	37	chr12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatccacctcaagtAcccgctgaactgctccgatc	5	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000318974.9	+	3	537	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C|PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	98	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(292-294)tAc>tGc		protein tyrosine phosphatase, non-receptor type 6							96	110	105					12																	7061307		2189	4282	6471	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061307A>G		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.293A>G	12.37:g.7061307A>G	ENSP00000326010:p.Tyr98Cys					PTPN6_ENST00000318974.9_Missense_Mutation_p.Y98C|PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C	p.Y98C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			3	535	+			98			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.293A>G	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381149	0.61845	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.37	4.37	0.52481	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.63843	1.955	0.58432	D	0.999999	P;B;P;B;P	0.43607	0.812;0.444;0.802;0.184;0.701	P;B;B;B;B	0.46659	0.523;0.44;0.44;0.184;0.343	D	0.95169	0.8288	10	0.46703	T	0.11	.	13.5971	0.61996	1.0:0.0:0.0:0.0	.	86;59;98;98;100	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	119;100;59;98;98;98;98;98;57	ENSP00000443393:Y119C;ENSP00000382376:Y100C;ENSP00000415979:Y59C;ENSP00000438740:Y98C;ENSP00000326010:Y98C;ENSP00000391592:Y98C;ENSP00000444337:Y98C;ENSP00000445646:Y98C;ENSP00000440114:Y57C	ENSP00000326010:Y98C	Y	+	2	0	PTPN6	6931568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.612000	0.50221	0.459000	0.35465	TAC		0.627	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		62	443	0	0	0	1	0	62	443					G	7061307	A	G	7061307	3	3	79	1	0	0	0	0	1	0	0	0	12842	391	14	4	321	4	PTPN6	12	7061307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13335	7061307	126790588	13000	23317											
PTPN6	5777	broad.mit.edu	37	chr12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggctgacattgagaaccGagtgttggaactgaacaaga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000318974.9	+	6	921	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	226					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(676-678)cGa>cAa		protein tyrosine phosphatase, non-receptor type 6							144	158	154					12																	7064578		2065	4190	6255	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064578G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.677G>A	12.37:g.7064578G>A	ENSP00000326010:p.Arg226Gln					PTPN6_ENST00000318974.9_Missense_Mutation_p.R226Q|PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q	p.R226Q	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			6	919	+			226					A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.677G>A	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804738	0.96967	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.15372	2.5;2.45;2.45;2.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.54702	-0.8254	10	0.56958	D	0.05	.	18.6319	0.91363	0.0:0.0:1.0:0.0	.	214;187;226;226;228	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	Q	228;187;226;226	ENSP00000382376:R228Q;ENSP00000415979:R187Q;ENSP00000326010:R226Q;ENSP00000391592:R226Q	ENSP00000326010:R226Q	R	+	2	0	PTPN6	6934839	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.336000	0.96533	2.465000	0.83290	0.561000	0.74099	CGA		0.582	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		138	728	0	0	0	1	0	138	728					A	7064578	G	A	7064578	3	1	79	1	0	0	0	0	1	0	0	0	12842	1058	37	1	717	1	PTPN6	12	7064578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3271	7064578	126787317	13001	23318											
PTPN6	5777	broad.mit.edu	37	chr12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaactccgtaccttacaGgtctccccgctggacaatgt	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000318974.9	+	10	1432	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	396	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(1186-1188)caG>caT		protein tyrosine phosphatase, non-receptor type 6							79	84	83					12																	7066930		2039	4166	6205	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7066930G>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1188G>T	12.37:g.7066930G>T	ENSP00000326010:p.Gln396His					PTPN6_ENST00000318974.9_Missense_Mutation_p.Q396H|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H	p.Q396H	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			10	1430	+			396			Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.1188G>T	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066189	0.08388	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.08	3.24	0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.505646	0.20813	N	0.085210	T	0.72179	0.3428	N	0.21282	0.65	0.24333	N	0.994999	B;B;B;B;B	0.21225	0.053;0.002;0.009;0.001;0.003	B;B;B;B;B	0.20184	0.028;0.007;0.011;0.013;0.011	T	0.59096	-0.7518	10	0.42905	T	0.14	.	11.9817	0.53123	0.0:0.3944:0.4492:0.1564	.	384;357;396;396;398	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	398;357;396;396	ENSP00000382376:Q398H;ENSP00000415979:Q357H;ENSP00000326010:Q396H;ENSP00000391592:Q396H	ENSP00000326010:Q396H	Q	+	3	2	PTPN6	6937191	0.699000	0.27786	0.827000	0.32855	0.302000	0.27658	0.183000	0.16919	0.171000	0.19730	-1.268000	0.01426	CAG		0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		58	169	1	0	4.33383e-22	1	4.89722e-22	58	169					T	7066930	G	T	7066930	3	4	79	1	0	0	0	0	1	0	0	0	12842	991	35	3	1244	3	PTPN6	12	7066930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	7066930	126784965	13002	23319											
LPCAT3	10162	broad.mit.edu	37	chr12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggcccattagtcgaaGgatgaggaactgaagcacaa	14	8	0	2	rs376479324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I	LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	104					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(310-312)Ctt>Att		lysophosphatidylcholine acyltransferase 3							170	143	152					12																	7091893		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7091893G>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.310C>A	12.37:g.7091893G>T	ENSP00000261407:p.Leu104Ile					U47924.19_ENST00000564245.1_RNA	p.L104I	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			3	395	-			104					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.310C>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110867	0.77210	.	.	ENSG00000111684	ENST00000261407	T	0.71934	-0.61	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.64170	1.965	0.58432	D	0.999999	D	0.62365	0.991	P	0.51016	0.656	T	0.70464	-0.4864	10	0.17369	T	0.5	-8.131	19.1278	0.93393	0.0:0.0:1.0:0.0	.	104	Q6P1A2	MBOA5_HUMAN	I	104	ENSP00000261407:L104I	ENSP00000261407:L104I	L	-	1	0	LPCAT3	6962154	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.477000	0.60223	2.756000	0.94617	0.561000	0.74099	CTT		0.517	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		24	163	1	0	3.28513e-13	1	3.54196e-13	24	163					T	7091893	G	T	7091893	3	4	79	1	0	0	0	0	1	0	0	0	8950	1000	35	3	1193	3	LPCAT3	12	7091893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24963	7091893	126760002	13003	23320											
C1S	716	broad.mit.edu	37	chr12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagagaaatcttgggacataGaagttcctgaagggtatggg	14	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000406697.1	+	6	755	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*			P09871	C1S_HUMAN	complement component 1, s subcomponent	43	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(127-129)Gaa>Taa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						145	136	139					12																	7169900		2203	4300	6503	SO:0001587	stop_gained	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7169900G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.127G>T	12.37:g.7169900G>T	ENSP00000385035:p.Glu43*					C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron	p.E43*			P09871	C1S_HUMAN			6	755	+			43			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	c.127G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	41	8.566988	0.98866	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	3.45	0.39498	.	0.000000	0.43919	D	0.000504	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.3174	0.11000	0.089:0.2754:0.5153:0.1204	.	.	.	.	X	43;43;43;25;43;43;43	.	ENSP00000328173:E43X	E	+	1	0	C1S	7040161	0.002000	0.14202	0.996000	0.52242	0.976000	0.68499	0.258000	0.18387	2.724000	0.93272	0.561000	0.74099	GAA		0.473	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		63	361	1	0	5.10652e-33	1	6.04401e-33	63	361					T	7169900	G	T	7169900	4	4	79	1	0	0	0	0	0	1	0	0	1981	943	33	3	133	3	C1S	12	7169900	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78007	7169900	126681995	13004	23321											
C1S	716	broad.mit.edu	37	chr12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacagggcaaaaaaagggcTggaaacttcgctatcatgga	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000406697.1	+	10	1475	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_ENST00000402681.3_Missense_Mutation_p.W116R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(847-849)Tgg>Cgg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						135	128	131					12																	7173250		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7173250T>C		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.847T>C	12.37:g.7173250T>C	ENSP00000385035:p.Trp283Arg					C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R	p.W283R			P09871	C1S_HUMAN			10	1475	+			283			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.847T>C	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955948	0.73902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	5.75	0.90469	CUB (5);	0.000000	0.39687	N	0.001290	T	0.53802	0.1819	M	0.89478	3.035	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.62978	-0.6739	10	0.87932	D	0	.	15.2367	0.73436	0.0:0.0:0.0:1.0	.	283	P09871	C1S_HUMAN	R	283;283;283;271;116;116	ENSP00000385035:W283R;ENSP00000328173:W283R;ENSP00000354057:W283R;ENSP00000384171:W116R;ENSP00000442298:W116R	ENSP00000328173:W283R	W	+	1	0	C1S	7043511	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.857000	0.69525	2.185000	0.69588	0.459000	0.35465	TGG		0.428	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		51	330	0	0	0	1	0	51	330					C	7173250	T	C	7173250	3	2	79	1	0	0	0	0	1	0	0	0	1981	1580	55	4	869	4	C1S	12	7173250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3350	7173250	126678645	13005	23322											
C1S	716	broad.mit.edu	37	chr12	7177355	7177355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaatgtatgttgggtcCacctcagtgcagacctcacg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000406697.1	+	15	2095	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_ENST00000402681.3_Silent_p.S322S|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	489	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1465-1467)tcC>tcT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57	50	52					12																	7177355		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177355C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1467C>T	12.37:g.7177355C>T						C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S	p.S489S			P09871	C1S_HUMAN			15	2095	+			489			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.1467C>T	CCDS31735.1																																																																																				0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		26	142	0	0	0	1	0	26	142					T	7177355	C	T	7177355	2	4	79	1	0	0	0	0	0	0	0	1	1981	581	21	2		2	C1S	12	7177355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	7177355	126674540	13006	23323											
C1S	716	broad.mit.edu	37	chr12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacctcatggatggggacCtgggactgatctcaggctgg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000406697.1	+	15	2318	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_ENST00000402681.3_Missense_Mutation_p.L397M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M			P09871	C1S_HUMAN	complement component 1, s subcomponent	564	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1690-1692)Ctg>Atg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						52	49	50					12																	7177578		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177578C>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1690C>A	12.37:g.7177578C>A	ENSP00000385035:p.Leu564Met					C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M	p.L564M			P09871	C1S_HUMAN			15	2318	+			564			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1690C>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040696	0.35989	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.16	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252645	0.20722	N	0.086888	T	0.73442	0.3587	N	0.12569	0.235	0.09310	N	0.999995	B	0.24882	0.113	B	0.26770	0.073	T	0.57763	-0.7755	10	0.16420	T	0.52	.	3.5999	0.08020	0.1378:0.5849:0.1332:0.1441	.	564	P09871	C1S_HUMAN	M	564;564;564;558;397	ENSP00000385035:L564M;ENSP00000328173:L564M;ENSP00000354057:L564M;ENSP00000384171:L397M	ENSP00000328173:L564M	L	+	1	2	C1S	7047839	0.044000	0.20184	0.241000	0.24154	0.018000	0.09664	0.253000	0.18296	0.330000	0.23485	0.561000	0.74099	CTG		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		47	144	1	0	1.23103e-26	1	1.41986e-26	47	144					A	7177578	C	A	7177578	3	1	79	1	0	0	0	0	1	0	0	0	1981	680	24	3	1732	3	C1S	12	7177578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7177578	126674317	13007	23324											
C1RL	51279	broad.mit.edu	37	chr12	7249062	7249062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaagtcatacccttcGccacaccctatgccccagga	8	15	1	1	rs371455511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000266542.4	-	6	1481	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	463	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1387-1389)ggC>ggT		complement component 1, r subcomponent-like		G		0,4406		0,0,2203	132	115	121		1389	4.1	1	12		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1RL	NM_016546.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		463/488	7249062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249062G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1389C>T	12.37:g.7249062G>A						C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	p.G463G	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1481	-			463			Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.1389C>T	CCDS8573.1																																																																																				0.562	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		60	429	0	0	0	1	0	60	429					A	7249062	G	A	7249062	2	1	79	1	0	0	0	0	0	0	0	1	1980	1074	38	1		1	C1RL	12	7249062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71484	7249062	126602833	13008	23325											
CLSTN3	9746	broad.mit.edu	37	chr12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtatcgtgcggctgtgAcagaggggaagctgtacgat	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000266546.6	+	4	913	c.463A>T	c.(463-465)Aca>Tca	p.T155S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.T167S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	155	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCGGCTGTGACAGAGGGGAA	0.567																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(499-501)Aca>Tca		calsyntenin 3							213	133	160					12																	7288002		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288002A>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.463A>T	12.37:g.7288002A>T	ENSP00000266546:p.Thr155Ser					CLSTN3_ENST00000266546.6_Missense_Mutation_p.T155S	p.T167S			Q9BQT9	CSTN3_HUMAN			3	1037	+			155			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.499A>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724125	0.48728	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.59083	0.29;0.29;0.91;1.27;1.27;0.29	5.01	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.050981	0.85682	D	0.000000	T	0.46678	0.1405	L	0.36672	1.1	0.40695	D	0.982434	B;P	0.38250	0.033;0.624	B;B	0.39465	0.015;0.3	T	0.36915	-0.9728	9	.	.	.	-19.1582	10.4463	0.44497	0.9235:0.0:0.0765:0.0	.	167;155	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	155;118;118;118;138;167	ENSP00000266546:T155S;ENSP00000442612:T118S;ENSP00000443468:T118S;ENSP00000443490:T118S;ENSP00000442801:T138S;ENSP00000440679:T167S	.	T	+	1	0	CLSTN3	7179269	1.000000	0.71417	0.916000	0.36221	0.607000	0.37147	3.918000	0.56432	0.947000	0.37659	0.374000	0.22700	ACA		0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		50	330	0	0	0	1	0	50	330					T	7288002	A	T	7288002	3	4	79	1	0	0	0	0	1	0	0	0	3572	275	10	5	477	5	CLSTN3	12	7288002	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38940	7288002	126563893	13009	23326											
CLSTN3	9746	broad.mit.edu	37	chr12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcctgggcctggtgcGcatccattcccttcaccgcc	11	17	1	0	rs575113186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000266546.6	+	17	3056	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCTGGTGCGCATCCATTCC	0.662																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2641-2643)cGc>cAc		calsyntenin 3							68	58	62					12																	7310163		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310163G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2606G>A	12.37:g.7310163G>A	ENSP00000266546:p.Arg869His					CLSTN3_ENST00000266546.6_Missense_Mutation_p.R869H|CLSTN3_ENST00000331148.5_3'UTR	p.R881H			Q9BQT9	CSTN3_HUMAN			16	3180	+			869					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2642G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685658	0.88639	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39056	1.1;1.1	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.71563	-0.4555	10	0.87932	D	0	-28.1793	18.2262	0.89917	0.0:0.0:1.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	H	869;881	ENSP00000266546:R869H;ENSP00000440679:R881H	ENSP00000266546:R869H	R	+	2	0	CLSTN3	7201430	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	9.593000	0.98250	2.619000	0.88677	0.462000	0.41574	CGC		0.662	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		22	126	0	0	0	1	0	22	126					A	7310163	G	A	7310163	3	1	79	1	0	0	0	0	1	0	0	0	3572	1087	38	1	2672	1	CLSTN3	12	7310163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22161	7310163	126541732	13010	23327											
PEX5	5830	broad.mit.edu	37	chr12	7361053	7361053	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatccctgatcaaacagGtgtctggagctaaagccaga	10	12	2	2	rs199624284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000455147.2	+	14	1762	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000266563.5_Splice_Site_p.R357S|PEX5_ENST00000412720.2_Splice_Site_p.R415S|PEX5_ENST00000266564.3_Splice_Site_p.R386S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	394					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.e12-1		peroxisomal biogenesis factor 5							39	34	36					12																	7361053		2203	4300	6503	SO:0001630	splice_region_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7361053G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1182-1G>T	12.37:g.7361053G>T						PEX5_ENST00000420616.2_Splice_Site_p.R394_splice|PEX5_ENST00000412720.2_Splice_Site_p.R415_splice|PEX5_ENST00000434354.2_Splice_Site_p.R409_splice|PEX5_ENST00000455147.2_Splice_Site_p.R394_splice|PEX5_ENST00000266564.3_Splice_Site_p.R386_splice	p.R357_splice	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			12	1254	+			394					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Splice_Site	SNP	ENST00000455147.2	37	c.1070_splice	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078261	0.55753	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.31	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048768	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88979	2.995	0.58432	D	0.999998	P;B;P;B;D	0.67145	0.739;0.341;0.914;0.389;0.996	B;B;P;B;P	0.54140	0.299;0.163;0.729;0.193;0.743	T	0.77319	-0.2632	9	.	.	.	.	11.6969	0.51548	0.1455:0.0:0.8545:0.0	.	415;409;394;386;357	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	S	394;357;409;394;415;364;386	ENSP00000400647:R394S;ENSP00000266563:R357S;ENSP00000407401:R409S;ENSP00000410159:R394S;ENSP00000391601:R415S;ENSP00000379877:R364S;ENSP00000266564:R386S	.	R	+	3	2	PEX5	7252320	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	1.233000	0.43693	0.591000	0.81541	AGG		0.537	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	Missense_Mutation	28	130	1	0	1.77063e-15	1	1.9355e-15	28	130					T	7361053	G	T	7361053	5	4	79	1	0	0	0	0	0	0	1	0	11790	1275	44	3	1273	3	PEX5	12	7361053	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50890	7361053	126490842	13011	23328											
ACSM4	341392	broad.mit.edu	37	chr12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggccgtgattctgcccaGaatccctgagtggtggctgg	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	123					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATTCTGCCCAGAATCCCTGAG	0.512																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(367-369)aGa>aTa		acyl-CoA synthetase medium-chain family member 4							76	82	80					12																	7459295		2081	4246	6327	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7459295G>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.368G>T	12.37:g.7459295G>T	ENSP00000382349:p.Arg123Ile						p.R123I	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			2	416	+			123					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.368G>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032603	0.75504	.	.	ENSG00000215009	ENST00000399422	T	0.12465	2.68	4.89	4.0	0.46444	AMP-dependent synthetase/ligase (1);	0.000000	0.36200	U	0.002740	T	0.41650	0.1168	M	0.90145	3.09	0.53005	D	0.999965	D	0.63880	0.993	D	0.63703	0.917	T	0.53606	-0.8415	10	0.87932	D	0	-12.2778	13.4508	0.61169	0.0:0.159:0.841:0.0	.	123	P0C7M7	ACSM4_HUMAN	I	123	ENSP00000382349:R123I	ENSP00000382349:R123I	R	+	2	0	ACSM4	7350562	0.947000	0.32204	0.931000	0.37212	0.884000	0.51177	5.178000	0.65037	1.216000	0.43427	-0.121000	0.15023	AGA		0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		20	76	1	0	3.62473e-10	1	3.83521e-10	20	76					T	7459295	G	T	7459295	3	4	79	1	0	0	0	0	1	0	0	0	186	942	33	3	374	3	ACSM4	12	7459295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98242	7459295	126392600	13012	23329											
CD163L1	283316	broad.mit.edu	37	chr12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgtttccactcccatcGtatacaatcccagagagagg	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408																																						ENST00000313599.3																			1	Substitution - Nonsense(1)	p.R771*(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2311-2313)Cga>Tga		CD163 molecule-like 1							72	72	72					12																	7531634		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531634G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2311C>T	12.37:g.7531634G>A	ENSP00000315945:p.Arg771*					CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*	p.R771*			Q9NR16	C163B_HUMAN			9	2368	-			771			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.2311C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		88	366	0	0	0	1	0	88	366					A	7531634	G	A	7531634	4	1	79	1	0	0	0	0	0	1	0	0	2977	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72339	7531634	126320261	13013	23330											
CD163L1	283316	broad.mit.edu	37	chr12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctttctgtgaaatgaGgctctctggagaccctgatt	10	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000313599.3	-	9	2285	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	743	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2227-2229)cCt>cTt		CD163 molecule-like 1							124	107	113					12																	7531717		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531717G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2228C>T	12.37:g.7531717G>A	ENSP00000315945:p.Pro743Leu					CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L	p.P743L			Q9NR16	C163B_HUMAN			9	2285	-			743			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2228C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060813	0.19987	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.187460	0.03114	U	0.162876	T	0.25382	0.0617	N	0.26042	0.785	0.09310	N	1	B;B	0.26635	0.155;0.155	B;B	0.31495	0.131;0.131	T	0.27536	-1.0071	10	0.51188	T	0.08	.	5.5718	0.17200	0.4564:0.1455:0.3982:0.0	.	753;743	E7EVK4;Q9NR16	.;C163B_HUMAN	L	743;753;743	ENSP00000315945:P743L;ENSP00000393474:P753L;ENSP00000379871:P743L	ENSP00000315945:P743L	P	-	2	0	CD163L1	7422984	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.428000	0.06991	-1.435000	0.01972	0.455000	0.32223	CCT		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		100	394	0	0	0	1	0	100	394					A	7531717	G	A	7531717	3	1	79	1	0	0	0	0	1	0	0	0	2977	1000	35	2	2177	2	CD163L1	12	7531717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	7531717	126320178	13014	23331											
CD163L1	283316	broad.mit.edu	37	chr12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttacctgagcagatcaCagacacatcgttttgatgaa	8	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000313599.3	-	5	1132	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	359	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGATCACAGACACATCG	0.403																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1075-1077)Gtg>Atg		CD163 molecule-like 1							73	67	69					12																	7559140		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559140C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1075G>A	12.37:g.7559140C>T	ENSP00000315945:p.Val359Met					CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M	p.V359M			Q9NR16	C163B_HUMAN			5	1132	-			359			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1075G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345579	0.61073	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.56776	0.44;0.44;0.44	1.88	1.88	0.25563	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73187	0.3555	M	0.89414	3.03	0.27534	N	0.950993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.62478	-0.6846	9	0.87932	D	0	.	9.7292	0.40350	0.0:1.0:0.0:0.0	.	369;359	E7EVK4;Q9NR16	.;C163B_HUMAN	M	359;369;359	ENSP00000315945:V359M;ENSP00000393474:V369M;ENSP00000379871:V359M	ENSP00000315945:V359M	V	-	1	0	CD163L1	7450407	0.905000	0.30787	0.082000	0.20525	0.798000	0.45092	1.981000	0.40628	1.333000	0.45449	0.455000	0.32223	GTG		0.403	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		47	230	0	0	0	1	0	47	230					T	7559140	C	T	7559140	3	4	79	1	0	0	0	0	1	0	0	0	2977	478	17	2	3346	2	CD163L1	12	7559140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27423	7559140	126292755	13015	23332											
CD163L1	283316	broad.mit.edu	37	chr12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcccaactgcttgcataCgacatcagctgcagcattgt	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(895-897)Gta>Ata		CD163 molecule-like 1							319	245	270					12																	7559320		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559320C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.895G>A	12.37:g.7559320C>T	ENSP00000315945:p.Val299Ile					CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I	p.V299I			Q9NR16	C163B_HUMAN			5	952	-			299			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.895G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	CD163L1	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA		0.522	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		70	403	0	0	0	1	0	70	403					T	7559320	C	T	7559320	3	4	79	1	0	0	0	0	1	0	0	0	2977	536	19	1	3526	1	CD163L1	12	7559320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	7559320	126292575	13016	23333											
CD163	9332	broad.mit.edu	37	chr12	7639264	7639264	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcattaatggcctcTccacagcccagctgtctgca	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	763	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATGGCCTCTCCACAGCCCA	0.537																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2287-2289)ggA>ggT		CD163 molecule							159	158	158					12																	7639264		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639264T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2289A>T	12.37:g.7639264T>A						CD163_ENST00000432237.2_Silent_p.G763G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000541972.1_Silent_p.G751G	p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2491	-			763			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.2289A>T	CCDS8578.1																																																																																				0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		130	836	0	0	0	1	0	130	836					A	7639264	T	A	7639264	2	1	79	1	0	0	0	0	0	0	0	1	2976	1538	54	5		5	CD163	12	7639264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79944	7639264	126212631	13017	23334											
CD163	9332	broad.mit.edu	37	chr12	7640253	7640253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcttgccattcaccaaGcgaatttctgtgtatcctgg	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000541972.1_Silent_p.R572R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.R584R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CATTCACCAAGCGAATTTCTG	0.498																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1750-1752)cgC>cgT		CD163 molecule							71	72	72					12																	7640253		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640253G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1752C>T	12.37:g.7640253G>A						CD163_ENST00000432237.2_Silent_p.R584R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000541972.1_Silent_p.R572R	p.R584R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			8	1954	-			584			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.1752C>T	CCDS8578.1																																																																																				0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		13	459	0	0	0	1	0	13	459					A	7640253	G	A	7640253	2	1	79	1	0	0	0	0	0	0	0	1	2976	958	34	2		2	CD163	12	7640253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	989	7640253	126211642	13018	23335											
SLC2A14	144195	broad.mit.edu	37	chr12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagatctctccaatgtAcatgggcacaaaacctgtgc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	165					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCTCCAATGTACATGGGCACA	0.512																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(493-495)Tac>Cac		solute carrier family 2 (facilitated glucose transporter), member 14							82	75	78					12																	7982451		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982451A>G	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.493T>C	12.37:g.7982451A>G	ENSP00000440480:p.Tyr165His					SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542505.1_Intron	p.Y165H			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1252	-			165					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.493T>C	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	19.36	3.812660	0.70912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98005	4.125	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92989	0.6413	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	180;56;142;165	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	142;165;142;165;56;56;180;142;142	ENSP00000340450:Y142H;ENSP00000440480:Y165H;ENSP00000407287:Y142H;ENSP00000379834:Y165H;ENSP00000440492:Y56H;ENSP00000443903:Y56H;ENSP00000445929:Y180H;ENSP00000440043:Y142H;ENSP00000438312:Y142H	ENSP00000340450:Y142H	Y	-	1	0	SLC2A14	7873718	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	TAC		0.512	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		51	231	0	0	0	1	0	51	231					G	7982451	A	G	7982451	3	3	79	1	0	0	0	0	1	0	0	0	14593	391	14	4	1097	4	SLC2A14	12	7982451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342198	7982451	125869444	13019	23336											
SLC2A14	144195	broad.mit.edu	37	chr12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccgattgtagcaactgTgatggcaaagatcagagctg	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTAGCAACTGTGATGGCAAAG	0.453											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(115-117)Aca>Gca		solute carrier family 2 (facilitated glucose transporter), member 14							101	93	96					12																	7985383		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7985383T>C	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.115A>G	12.37:g.7985383T>C	ENSP00000440480:p.Thr39Ala		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron	p.T39A			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	8	874	-			39					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.115A>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076820	0.20227	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	2.45	-4.91	0.03085	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714646	0.13364	N	0.393459	T	0.42607	0.1210	N	0.05592	-0.015	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.37009	-0.9724	10	0.11182	T	0.66	.	4.7116	0.12875	0.6321:0.1178:0.0:0.2501	.	54;16;39	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	A	16;39;16;39;54;16;16;16;39;39;16;16;16	ENSP00000340450:T16A;ENSP00000440480:T39A;ENSP00000407287:T16A;ENSP00000379834:T39A;ENSP00000445929:T54A;ENSP00000440043:T16A;ENSP00000438312:T16A;ENSP00000443217:T16A;ENSP00000440044:T39A;ENSP00000437653:T39A;ENSP00000442402:T16A;ENSP00000443076:T16A	ENSP00000340450:T16A	T	-	1	0	SLC2A14	7876650	0.000000	0.05858	0.003000	0.11579	0.894000	0.52154	-0.909000	0.04058	-1.551000	0.01706	-0.879000	0.02964	ACA		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		12	274	0	0	0	1	0	12	274					C	7985383	T	C	7985383	3	2	79	1	0	0	0	0	1	0	0	0	14593	1696	59	4	1483	4	SLC2A14	12	7985383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2932	7985383	125866512	13020	23337											
SLC2A3	6515	broad.mit.edu	37	chr12	8083844	8083844	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagttctagagtacctgGgccaccagaattccaacaac	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083844G>T	ENST00000075120.7	-	4	747	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	169					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAGTACCTGGGCCACCAGAA	0.458																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(505-507)gcC>gcA		solute carrier family 2 (facilitated glucose transporter), member 3							60	59	59					12																	8083844		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083844G>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.507C>A	12.37:g.8083844G>T							p.A169A	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	747	-			169					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.507C>A	CCDS8586.1																																																																																				0.458	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		57	240	1	0	2.82306e-37	1	3.38865e-37	57	240					T	8083844	G	T	8083844	2	4	79	1	0	0	0	0	0	0	0	1	14595	1219	43	3		3	SLC2A3	12	8083844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98461	8083844	125768051	13021	23338											
SLC2A3	6515	broad.mit.edu	37	chr12	8083913	8083913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccgcagggcagtaggCgagatctctccaatgtacat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(436-438)tcG>tcA		solute carrier family 2 (facilitated glucose transporter), member 3							90	84	86					12																	8083913		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083913C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.438G>A	12.37:g.8083913C>T							p.S146S	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	678	-			146					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.438G>A	CCDS8586.1																																																																																				0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		57	304	0	0	0	1	0	57	304					T	8083913	C	T	8083913	2	4	79	1	0	0	0	0	0	0	0	1	14595	755	27	1		1	SLC2A3	12	8083913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	8083913	125767982	13022	23339											
FOXJ2	55810	broad.mit.edu	37	chr12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccccacctctaccctgGcccatcaccaatgtacccaa	4	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	527					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1579-1581)gGc>gAc		forkhead box J2							127	117	120					12																	8203160		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8203160G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1580G>A	12.37:g.8203160G>A	ENSP00000162391:p.Gly527Asp					FOXJ2_ENST00000539192.1_3'UTR	p.G527D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	10	2725	+			527					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1580G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358698	0.82243	.	.	ENSG00000065970	ENST00000162391	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.799837	0.11621	N	0.545746	D	0.96009	0.8700	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93264	0.6646	10	0.34782	T	0.22	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	527	Q9P0K8	FOXJ2_HUMAN	D	527	ENSP00000162391:G527D	ENSP00000162391:G527D	G	+	2	0	FOXJ2	8094427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.655000	0.90218	0.655000	0.94253	GGC		0.522	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		55	279	0	0	0	1	0	55	279					A	8203160	G	A	8203160	3	1	79	1	0	0	0	0	1	0	0	0	6039	1203	42	2	1614	2	FOXJ2	12	8203160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119247	8203160	125648735	13023	23340											
C3AR1	719	broad.mit.edu	37	chr12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttgctttcttcctaaaatCtttccccaagagggcataaa	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1321-1323)Gat>Tat		complement component 3a receptor 1							92	85	88					12																	8211461		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211461C>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1321G>T	12.37:g.8211461C>A	ENSP00000302079:p.Asp441Tyr						p.D441Y	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1524	-			441					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1321G>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525039	0.85600	.	.	ENSG00000171860	ENST00000307637	T	0.40476	1.03	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.66973	0.2844	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.69307	0.963	T	0.71567	-0.4554	10	0.87932	D	0	.	16.4145	0.83729	0.0:1.0:0.0:0.0	.	441	Q16581	C3AR_HUMAN	Y	441	ENSP00000302079:D441Y	ENSP00000302079:D441Y	D	-	1	0	C3AR1	8102728	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.746000	0.94184	0.655000	0.94253	GAT		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			62	375	1	0	3.21867e-24	1	3.67736e-24	62	375					A	8211461	C	A	8211461	3	1	79	1	0	0	0	0	1	0	0	0	2212	913	32	3	131	3	C3AR1	12	8211461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8301	8211461	125640434	13024	23341											
C3AR1	719	broad.mit.edu	37	chr12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcagcaggtttaaatAcattagaatacagattttga	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	258					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(772-774)gTa>gCa		complement component 3a receptor 1							63	66	65					12																	8212009		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212009A>G	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.773T>C	12.37:g.8212009A>G	ENSP00000302079:p.Val258Ala						p.V258A	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	976	-			258					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.773T>C	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.489924	0.04322	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	3.99	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	2.097880	0.02844	N	0.128232	T	0.55497	0.1924	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.45234	-0.9275	10	0.72032	D	0.01	.	4.1551	0.10256	0.399:0.3827:0.2183:0.0	.	258	Q16581	C3AR_HUMAN	A	258	ENSP00000302079:V258A	ENSP00000302079:V258A	V	-	2	0	C3AR1	8103276	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.092000	0.30927	-0.370000	0.08016	-0.250000	0.11733	GTA		0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			50	309	0	0	0	1	0	50	309					G	8212009	A	G	8212009	3	3	79	1	0	0	0	0	1	0	0	0	2212	391	14	4	679	4	C3AR1	12	8212009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	548	8212009	125639886	13025	23342											
CLEC4A	50856	broad.mit.edu	37	chr12	8290773	8290773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagtgatcccaatgagCgctgcgttgtgctaaatttt	10	10	0	2	rs142973159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	ENST00000229332.5	+	6	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCCCAATGAGCGCTGCGTTGT	0.438													c|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(604-606)Cgc>Tgc		C-type lectin domain family 4, member A							130	112	118					12																	8290773		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290773C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.604C>T	12.37:g.8290773C>T	ENSP00000229332:p.Arg202Cys					CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C	p.R202C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	851	+			202			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.604C>T	CCDS8590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.66	2.302802	0.40795	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	3.98	-0.149	0.13420	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.30541	0.0768	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.931;0.931;0.931;0.959	T	0.15636	-1.0430	10	0.72032	D	0.01	.	4.1835	0.10387	0.0:0.5267:0.1701:0.3032	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	C	202;130;169;163	ENSP00000229332:R202C;ENSP00000344646:R130C;ENSP00000247243:R169C;ENSP00000353690:R163C	ENSP00000229332:R202C	R	+	1	0	CLEC4A	8182040	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.311000	0.08124	-0.030000	0.13804	0.585000	0.79938	CGC		0.438	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		48	244	0	0	0	1	0	48	244					T	8290773	C	T	8290773	3	4	79	1	0	0	0	0	1	0	0	0	3521	768	27	1	626	1	CLEC4A	12	8290773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78764	8290773	125561122	13026	23343											
CLEC4E	26253	broad.mit.edu	37	chr12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagagctctgtgaaattcTcaggtagctgaaactttttc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000299663.3	-	3	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	61					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348																																						ENST00000299663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(181-183)gAg>gCg		C-type lectin domain family 4, member E							134	138	137					12																	8691851		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8691851T>G	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"C-type lectin domain containing"	14555	protein-coding gene	gene with protein product		609962	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.182A>C	12.37:g.8691851T>G	ENSP00000299663:p.Glu61Ala					CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN			3	347	-	Lung SC(5;0.184)		61					B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.182A>C	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942145	0.34283	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38560	2.34;1.13	3.92	0.128	0.14733	C-type lectin-like (1);	0.754446	0.11791	N	0.529157	T	0.32645	0.0836	L	0.55481	1.735	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.22208	-1.0223	10	0.29301	T	0.29	.	6.2796	0.20999	0.0:0.3235:0.0:0.6765	.	61	Q9ULY5	CLC4E_HUMAN	A	61	ENSP00000299663:E61A;ENSP00000443034:E61A	ENSP00000299663:E61A	E	-	2	0	CLEC4E	8583118	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	0.022000	0.15160	-0.250000	0.11733	GAG		0.348	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		111	435	0	0	0	1	0	111	435					G	8691851	T	G	8691851	3	3	79	1	0	0	0	0	1	0	0	0	3524	1551	54	4	493	4	CLEC4E	12	8691851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	401078	8691851	125160044	13027	23344											
RIMKLB	57494	broad.mit.edu	37	chr12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacaacatgagtgcaagTtccagctctgttgacagcga	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000538135.1	+	6	1866	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	347					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1039-1041)agT>agG		ribosomal modification protein rimK-like family member B							89	88	88					12																	8926260		1952	4140	6092	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926260T>G	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1041T>G	12.37:g.8926260T>G	ENSP00000440943:p.Ser347Arg					RIMKLB_ENST00000538135.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron	p.S347R	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			7	2303	+			347					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.1041T>G	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954709	0.34471	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	3.05	0.35203	.	0.052881	0.85682	U	0.000000	T	0.26629	0.0651	N	0.24115	0.695	0.46954	D	0.999268	P	0.50943	0.94	B	0.38655	0.278	T	0.02533	-1.1145	8	.	.	.	.	6.479	0.22053	0.0:0.3151:0.0:0.6849	.	347	Q9ULI2	RIMKB_HUMAN	R	347	.	.	S	+	3	2	RIMKLB	8817527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.199000	0.32235	0.996000	0.38943	0.482000	0.46254	AGT		0.587	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		125	548	0	0	0	1	0	125	548					G	8926260	T	G	8926260	3	3	79	1	0	0	0	0	1	0	0	0	13416	1722	60	4	1059	4	RIMKLB	12	8926260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234409	8926260	124925635	13028	23345											
RIMKLB	57494	broad.mit.edu	37	chr12	8926329	8926329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagctcccagggggcctGttcaacatgaaccagctgct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000538135.1	+	6	1935	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000357529.3_Silent_p.L370L			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	370					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1108-1110)ctG>ctA		ribosomal modification protein rimK-like family member B							79	78	79					12																	8926329		1892	4109	6001	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926329G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1110G>A	12.37:g.8926329G>A						RIMKLB_ENST00000538135.1_Silent_p.L370L|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron	p.L370L	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			7	2372	+			370					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.1110G>A	CCDS41748.1																																																																																				0.493	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		124	529	0	0	0	1	0	124	529					A	8926329	G	A	8926329	2	1	79	1	0	0	0	0	0	0	0	1	13416	1364	48	2		2	RIMKLB	12	8926329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	8926329	124925566	13029	23346											
A2ML1	144568	broad.mit.edu	37	chr12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatcaccagccattgcagaaGaacttccgtgagtgcttggt	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTGCAGAAGAACTTCCGTG	0.483																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(55-57)Gaa>Taa		alpha-2-macroglobulin-like 1							110	107	108					12																	8975302		1912	4128	6040	SO:0001587	stop_gained	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8975302G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.55G>T	12.37:g.8975302G>T	ENSP00000299698:p.Glu19*					A2ML1-AS1_ENST00000537288.1_RNA	p.E19*	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			1	235	+			0						Nonsense_Mutation	SNP	ENST00000299698.7	37	c.55G>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	37	6.347612	0.97494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	.	.	.	4.09	-0.855	0.10700	.	2.920560	0.01169	N	0.006836	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.3015	0.04163	0.1589:0.4917:0.1829:0.1665	.	.	.	.	X	19	.	ENSP00000299698:E19X	E	+	1	0	A2ML1	8866569	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	-0.003000	0.12901	-0.166000	0.10890	0.655000	0.94253	GAA		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		80	320	1	0	3.89792e-41	1	4.73322e-41	80	320					T	8975302	G	T	8975302	4	4	79	1	0	0	0	0	0	1	0	0	5	943	33	3	57	3	A2ML1	12	8975302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48973	8975302	124876593	13030	23347											
A2ML1	144568	broad.mit.edu	37	chr12	9002321	9002321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagccagtagattgcagTcacagatctccagaatacag	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAGATTGCAGTCACAGATCTC	0.473																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2083-2085)agT>agC		alpha-2-macroglobulin-like 1							118	112	114					12																	9002321		1895	4134	6029	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9002321T>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2085T>C	12.37:g.9002321T>C						A2ML1_ENST00000539547.1_Silent_p.S204S	p.S695S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			17	2265	+			539						Silent	SNP	ENST00000299698.7	37	c.2085T>C	CCDS8596.2																																																																																				0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		60	297	0	0	0	1	0	60	297					C	9002321	T	C	9002321	2	2	79	1	0	0	0	0	0	0	0	1	5	1664	58	4		4	A2ML1	12	9002321	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27019	9002321	124849574	13031	23348											
A2ML1	144568	broad.mit.edu	37	chr12	9009783	9009783	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattatgggcacagccctgCagaacctggatggtctggtg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9009783C>T	ENST00000299698.7	+	24	3052	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGCCCTGCAGAACCTGGA	0.517																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2872-2874)Cag>Tag		alpha-2-macroglobulin-like 1							103	103	103					12																	9009783		1946	4145	6091	SO:0001587	stop_gained	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9009783C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2872C>T	12.37:g.9009783C>T	ENSP00000299698:p.Gln958*					A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	p.Q958*	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			24	3052	+			802						Nonsense_Mutation	SNP	ENST00000299698.7	37	c.2872C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	40	8.509052	0.98841	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.54	-2.53	0.06326	.	0.179059	0.26112	N	0.026267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.3273	0.15913	0.4006:0.4516:0.0:0.1478	.	.	.	.	X	958;958;508;467	.	ENSP00000299698:Q958X	Q	+	1	0	A2ML1	8901050	0.691000	0.27709	0.699000	0.30290	0.795000	0.44927	0.099000	0.15210	-0.726000	0.04895	0.462000	0.41574	CAG		0.517	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		12	495	0	0	0	1	0	12	495					T	9009783	C	T	9009783	4	4	79	1	0	0	0	0	0	1	0	0	5	711	25	2	2966	2	A2ML1	12	9009783	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7462	9009783	124842112	13032	23349											
A2ML1	144568	broad.mit.edu	37	chr12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccaagaacatccaggAtgctctcaagtggatggcag	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATCCAGGATGCTCTCAAG	0.488																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3181-3183)gAt>gCt		alpha-2-macroglobulin-like 1							101	99	100					12																	9010616		1972	4153	6125	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9010616A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3182A>C	12.37:g.9010616A>C	ENSP00000299698:p.Asp1061Ala					A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	p.D1061A	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			26	3362	+			905						Missense_Mutation	SNP	ENST00000299698.7	37	c.3182A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378609	0.24944	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.37584	1.19;1.19;1.19	3.85	-0.536	0.11876	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.601795	0.15417	N	0.263424	T	0.24236	0.0587	L	0.28400	0.85	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.15009	-1.0452	10	0.30854	T	0.27	.	6.1607	0.20362	0.4837:0.3779:0.0:0.1384	.	1061	A8K2U0	A2ML1_HUMAN	A	1061;1061;611;570	ENSP00000299698:D1061A;ENSP00000443174:D611A;ENSP00000438292:D570A	ENSP00000299698:D1061A	D	+	2	0	A2ML1	8901883	0.080000	0.21391	0.998000	0.56505	0.597000	0.36814	1.458000	0.35223	0.129000	0.18514	-0.333000	0.08304	GAT		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		98	364	0	0	0	1	0	98	364					C	9010616	A	C	9010616	3	2	79	1	0	0	0	0	1	0	0	0	5	333	12	4	3284	4	A2ML1	12	9010616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	9010616	124841279	13033	23350											
A2ML1	144568	broad.mit.edu	37	chr12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctactccatcatcgaacGccagcccttggtctgagcct	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCATCGAACGCCAGCCCTTG	0.488																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3547-3549)Gcc>Acc		alpha-2-macroglobulin-like 1							76	74	75					12																	9016434		1914	4153	6067	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9016434G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3547G>A	12.37:g.9016434G>A	ENSP00000299698:p.Ala1183Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	p.A1183T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			29	3727	+			1027						Missense_Mutation	SNP	ENST00000299698.7	37	c.3547G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	7.875	0.729032	0.15507	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33438	1.41;1.41;1.41	4.09	2.96	0.34315	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.733359	0.11961	N	0.512732	T	0.12646	0.0307	N	0.10664	0.02	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.34004	-0.9846	10	0.12430	T	0.62	.	3.8258	0.08853	0.2646:0.1927:0.5427:0.0	.	1183	A8K2U0	A2ML1_HUMAN	T	1183;1183;733;692	ENSP00000299698:A1183T;ENSP00000443174:A733T;ENSP00000438292:A692T	ENSP00000299698:A1183T	A	+	1	0	A2ML1	8907701	0.000000	0.05858	0.008000	0.14137	0.348000	0.29142	0.647000	0.24812	0.789000	0.33779	0.591000	0.81541	GCC		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		71	264	0	0	0	1	0	71	264					A	9016434	G	A	9016434	3	1	79	1	0	0	0	0	1	0	0	0	5	1087	38	1	3661	1	A2ML1	12	9016434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5818	9016434	124835461	13034	23351											
A2ML1	144568	broad.mit.edu	37	chr12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctgaggagatcaacctgGttgtaaaatccactgagaat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAACCTGGTTGTAAAATC	0.453																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3793-3795)Gtt>Ttt		alpha-2-macroglobulin-like 1							129	118	121					12																	9020513		1951	4132	6083	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020513G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3793G>T	12.37:g.9020513G>T	ENSP00000299698:p.Val1265Phe					A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	p.V1265F	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			30	3973	+			1109						Missense_Mutation	SNP	ENST00000299698.7	37	c.3793G>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311419	0.23821	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31769	1.48;1.6;2.14	3.63	1.79	0.24919	.	1.178110	0.06631	N	0.759227	T	0.28366	0.0701	L	0.58810	1.83	0.24162	N	0.995651	P	0.35944	0.529	B	0.32022	0.139	T	0.30416	-0.9979	10	0.66056	D	0.02	.	5.4362	0.16482	0.4473:0.0:0.5527:0.0	.	1265	A8K2U0	A2ML1_HUMAN	F	1265;1265;815;774	ENSP00000299698:V1265F;ENSP00000443174:V815F;ENSP00000438292:V774F	ENSP00000299698:V1265F	V	+	1	0	A2ML1	8911780	0.908000	0.30866	0.144000	0.22314	0.527000	0.34593	1.735000	0.38176	0.517000	0.28361	0.561000	0.74099	GTT		0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		69	327	1	0	1.08321e-29	1	1.26665e-29	69	327					T	9020513	G	T	9020513	3	4	79	1	0	0	0	0	1	0	0	0	5	1261	44	3	3911	3	A2ML1	12	9020513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4079	9020513	124831382	13035	23352											
PHC1	1911	broad.mit.edu	37	chr12	9089850	9089850	+	Silent	SNP	C	C	T													caagaagccaactatgctcgCgttcgcaggcgtggaccccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000543824.1	+	14	2888	c.2556C>T	c.(2554-2556)cgC>cgT	p.R852R	PHC1_ENST00000536844.1_Silent_p.R458R|PHC1_ENST00000433083.2_Silent_p.R807R|PHC1_ENST00000544916.1_Silent_p.R852R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	852					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2419-2421)cgC>cgT		polyhomeotic homolog 1 (Drosophila)							31	31	31					12																	9089850		2202	4286	6488	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089850C>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2556C>T	12.37:g.9089850C>T						PHC1_ENST00000543824.1_Silent_p.R852R|PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000536844.1_Silent_p.R458R	p.R807R			P78364	PHC1_HUMAN			12	2566	+			852					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.2421C>T	CCDS8597.1																																																																																				0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		33	144	0	0	0	1	0	33	144					T	9089850	C	T	9089850	2	4	79	1	0	0	0	0	0	0	0	1	11858	755	27	1		1	PHC1	12	9089850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69337	9089850	124762045	13036	23353	148	2									
PHC1	1911	broad.mit.edu	37	chr12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A													agccaactatgctcgcgttcGcaggcgtggaccccgccgca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000543824.1	+	14	2893	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_ENST00000536844.1_Missense_Mutation_p.R460H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537																																						ENST00000433083.2																			1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2425-2427)cGc>cAc		polyhomeotic homolog 1 (Drosophila)							27	27	27					12																	9089855		2202	4294	6496	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089855G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2561G>A	12.37:g.9089855G>A	ENSP00000440674:p.Arg854His					PHC1_ENST00000543824.1_Missense_Mutation_p.R854H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H	p.R809H			P78364	PHC1_HUMAN			12	2571	+			854					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2426G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	PHC1	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC		0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		31	148	0	0	0	1	0	31	148					A	9089855	G	A	9089855	3	1	79	1	0	0	0	0	1	0	0	0	11858	1087	38	1	2607	1	PHC1	12	9089855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	9089855	124762040	13037	23354	148	2									
A2M	2	broad.mit.edu	37	chr12	9225459	9225459	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagagcatggagagccacCactgtgtcctgttagagaca	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	ENST00000318602.7	-	30	4072	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1255					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)			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)	GGAGAGCCACCACTGTGTCCT	0.483																																						ENST00000318602.7																			0				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						c.(3763-3765)gtG>gtT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						41	40	40					12																	9225459		2053	4236	6289	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.chr12:9225459C>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.3765G>T	12.37:g.9225459C>A							p.V1255V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			30	4072	-			1255					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3765G>T	CCDS44827.1																																																																																				0.483	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		14	146	1	0	9.31168e-06	1	9.55451e-06	14	146					A	9225459	C	A	9225459	2	1	79	1	0	0	0	0	0	0	0	1	4	581	21	3		3	A2M	12	9225459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135604	9225459	124626436	13038	23355											
A2M	2	broad.mit.edu	37	chr12	9243824	9243824	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catttgggaaggtagtttagGaccgtggccttgagtgtgaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	814					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)			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)	GGTAGTTTAGGACCGTGGCCT	0.463																																						ENST00000318602.7																			0				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						c.(2440-2442)gtC>gtA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						108	108	108					12																	9243824		2203	4300	6503	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.chr12:9243824G>T	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.2442C>A	12.37:g.9243824G>T							p.V814V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			19	2749	-			814					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2442C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118899	0.01785	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-4.8	0.03190	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.47094	D	0.99931	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	3.2875	0.06937	0.1842:0.4367:0.2049:0.1742	.	.	.	.	Y	62	.	.	S	-	2	0	A2M	9135091	0.814000	0.29104	0.001000	0.08648	0.047000	0.14425	-0.028000	0.12350	-1.604000	0.01595	-0.471000	0.05019	TCC		0.463	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	389	1	0	0.000219431	1	0.000222766	13	389					T	9243824	G	T	9243824	2	4	79	1	0	0	0	0	0	0	0	1	4	1161	41	3		3	A2M	12	9243824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18365	9243824	124608071	13039	23356											
A2M	2	broad.mit.edu	37	chr12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcagaatccccaatcaCgtccccggtaggtaaaacag	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	551					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)			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)	TCCCCAATCACGTCCCCGGTA	0.428																																						ENST00000318602.7																			0				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						c.(1651-1653)Gtg>Atg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						73	68	69					12																	9252027		1911	4138	6049	SO:0001583	missense	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.chr12:9252027C>T	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.1651G>A	12.37:g.9252027C>T	ENSP00000323929:p.Val551Met						p.V551M	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			14	1958	-			551					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1651G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633547	0.29068	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.66280	-0.2	5.27	2.42	0.29668	Alpha-2-macroglobulin, N-terminal 2 (1);	0.194485	0.35378	N	0.003256	T	0.56001	0.1956	L	0.55017	1.72	0.29656	N	0.843599	D	0.60160	0.987	P	0.49953	0.627	T	0.54430	-0.8295	10	0.36615	T	0.2	.	2.0669	0.03605	0.1381:0.4841:0.1345:0.2432	.	551	P01023	A2MG_HUMAN	M	551;566	ENSP00000323929:V551M	ENSP00000323929:V551M	V	-	1	0	A2M	9143294	0.012000	0.17670	0.938000	0.37757	0.322000	0.28314	-0.124000	0.10595	0.723000	0.32274	-0.136000	0.14681	GTG		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		6	27	0	0	0	1	0	6	27					T	9252027	C	T	9252027	3	4	79	1	0	0	0	0	1	0	0	0	4	536	19	1	2865	1	A2M	12	9252027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8203	9252027	124599868	13040	23357											
PZP	5858	broad.mit.edu	37	chr12	9317762	9317762	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catttgggaaggtagtttagGaccgtggccttgagtgtgaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9317762G>T	ENST00000261336.2	-	19	2488	c.2460C>A	c.(2458-2460)gtC>gtA	p.V820V	PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	820					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)			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						GGTAGTTTAGGACCGTGGCCT	0.493																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				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						c.(2458-2460)gtC>gtA		pregnancy-zone protein							127	121	123					12																	9317762		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9317762G>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.2460C>A	12.37:g.9317762G>T						PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	p.V820V	NM_002864.2	NP_002855.2					19	2488	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2460C>A	CCDS8600.1																																																																																				0.493	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		52	328	1	0	1.41401e-22	1	1.60156e-22	52	328					T	9317762	G	T	9317762	2	4	79	1	0	0	0	0	0	0	0	1	12919	1161	41	3		3	PZP	12	9317762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65735	9317762	124534133	13041	23358											
PZP	5858	broad.mit.edu	37	chr12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgcttaccagttcatttCgagggcgaaaattttcatcc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	157					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)			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						CAGTTCATTTCGAGGGCGAAA	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				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						c.(469-471)cGa>cAa		pregnancy-zone protein							89	77	81					12																	9354925		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9354925C>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.470G>A	12.37:g.9354925C>T	ENSP00000261336:p.Arg157Gln					PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	p.R157Q	NM_002864.2	NP_002855.2					4	498	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.470G>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562161	0.27915	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73152	-0.72;-0.72	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.32971	0.0847	N	0.00926	-1.1	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.0;0.004	T	0.19844	-1.0293	10	0.51188	T	0.08	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	Q	157;26	ENSP00000261336:R157Q;ENSP00000371427:R26Q	ENSP00000261336:R157Q	R	-	2	0	PZP	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		27	127	0	0	0	1	0	27	127					T	9354925	C	T	9354925	3	4	79	1	0	0	0	0	1	0	0	0	12919	884	31	1	4110	1	PZP	12	9354925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37163	9354925	124496970	13042	23359											
CLECL1	160365	broad.mit.edu	37	chr12	9875328	9875328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagatttcttagtttcaGcaatccagtaacattttccc	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9875328G>T	ENST00000327839.3	-	2	432	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	133	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CTTAGTTTCAGCAATCCAGTA	0.358																																						ENST00000327839.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(397-399)gCt>gAt		C-type lectin-like 1							130	117	121					12																	9875328		2203	4300	6503	SO:0001583	missense	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9875328G>T	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.398C>A	12.37:g.9875328G>T	ENSP00000331766:p.Ala133Asp						p.A133D	NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN			2	432	-			133			C-type lectin; atypical.			Missense_Mutation	SNP	ENST00000327839.3	37	c.398C>A	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610957|2.610957	0.46631|0.46631	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.17213|.	2.29|.	3.15|3.15	2.24|2.24	0.28232|0.28232	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.29366|0.29366	-1.0014|-1.0014	8|5	.|.	.|.	.|.	.|.	6.5714|6.5714	0.22541|0.22541	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	133|.	Q8IZS7|.	CLCL1_HUMAN|.	D|M	133|85	ENSP00000331766:A133D|.	.|.	A|L	-|-	2|1	0|2	CLECL1|CLECL1	9766595|9766595	0.002000|0.002000	0.14202|0.14202	0.008000|0.008000	0.14137|0.14137	0.240000|0.240000	0.25518|0.25518	0.847000|0.847000	0.27696|0.27696	0.608000|0.608000	0.30000|0.30000	0.596000|0.596000	0.82720|0.82720	GCT|CTG		0.358	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		8	305	1	0	0.00307968	1	0.00310409	8	305					T	9875328	G	T	9875328	3	4	79	1	0	0	0	0	1	0	0	0	3532	971	34	3	109	3	CLECL1	12	9875328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520403	9875328	123976567	13043	23360											
CLEC2B	9976	broad.mit.edu	37	chr12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgtattcttttcctgcAaatccattttctttcggtgt	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368																																						ENST00000228438.2																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(430-432)Tgc>Cgc		C-type lectin domain family 2, member B							177	148	158					12																	10005919		2203	4300	6503	SO:0001583	missense	9976					integral to plasma membrane	sugar binding	g.chr12:10005919A>G	X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"C-type lectin domain containing"	2053	protein-coding gene	gene with protein product		603242	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.430T>C	12.37:g.10005919A>G	ENSP00000228438:p.Cys144Arg					CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	p.C144R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN			5	1363	-			144			C-type lectin.		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	ENST00000228438.2	37	c.430T>C	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657279	0.29425	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	D;D	0.97688	-4.49;-4.49	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47093	D	0.000257	D	0.98861	0.9615	H	0.95884	3.735	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	7.7084	0.28663	1.0:0.0:0.0:0.0	.	144	Q92478	CLC2B_HUMAN	R	144;75	ENSP00000228438:C144R;ENSP00000437946:C75R	ENSP00000228438:C144R	C	-	1	0	CLEC2B	9897186	0.996000	0.38824	0.958000	0.39756	0.154000	0.21943	2.948000	0.49066	1.604000	0.50143	0.528000	0.53228	TGC		0.368	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127		37	161	0	0	0	1	0	37	161					G	10005919	A	G	10005919	3	3	79	1	0	0	0	0	1	0	0	0	3516	130	5	4	23	4	CLEC2B	12	10005919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130591	10005919	123845976	13044	23361											
CLEC12A	160364	broad.mit.edu	37	chr12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagatcatatgactattgGctgggattatctcctgaaga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	190	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(568-570)tgG>tgA		C-type lectin domain family 12, member A							63	63	63					12																	10134657		2203	4300	6503	SO:0001587	stop_gained	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10134657G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.570G>A	12.37:g.10134657G>A	ENSP00000302804:p.Trp190*					CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*	p.W190*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			5	752	+			190			C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Nonsense_Mutation	SNP	ENST00000304361.4	37	c.570G>A	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802655	0.31869	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2605	0.31781	0.1068:0.0:0.8932:0.0	.	.	.	.	X	200;190;190;157	.	ENSP00000302804:W190X	W	+	3	0	CLEC12A	10025924	0.998000	0.40836	0.997000	0.53966	0.047000	0.14425	3.433000	0.52834	1.416000	0.47057	-0.136000	0.14681	TGG		0.338	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		24	126	0	0	0	1	0	24	126					A	10134657	G	A	10134657	4	1	79	1	0	0	0	0	0	1	0	0	3506	1212	42	2	588	2	CLEC12A	12	10134657	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128738	10134657	123717238	13045	23362											
CLEC12B	387837	broad.mit.edu	37	chr12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggaatttctcaagtcacaGatctccagtgtactgaagag	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000338896.5	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.Q112H|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(334-336)caG>caT		C-type lectin domain family 12, member B							98	92	94					12																	10167267		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167267G>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.336G>T	12.37:g.10167267G>T	ENSP00000344563:p.Gln112His					CLEC12B_ENST00000338896.5_Missense_Mutation_p.Q112H	p.Q112H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			3	464	+			112					Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.336G>T	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467313	0.43839	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.13	0.963	0.19649	C-type lectin fold (1);Ly49-like N-terminal (1);	0.508822	0.16725	N	0.202096	T	0.20700	0.0498	M	0.77313	2.365	0.22982	N	0.998474	P;P	0.36789	0.57;0.514	B;B	0.43990	0.438;0.311	T	0.12578	-1.0542	10	0.17832	T	0.49	.	3.235	0.06761	0.2275:0.0:0.5672:0.2053	.	112;112	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	H	112	ENSP00000379759:Q112H;ENSP00000344563:Q112H	ENSP00000344563:Q112H	Q	+	3	2	CLEC12B	10058534	1.000000	0.71417	0.932000	0.37286	0.819000	0.46315	1.450000	0.35134	0.477000	0.27464	0.462000	0.41574	CAG		0.458	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		57	231	1	0	2.23044e-30	1	2.6157e-30	57	231					T	10167267	G	T	10167267	3	4	79	1	0	0	0	0	1	0	0	0	3507	933	33	3	346	3	CLEC12B	12	10167267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32610	10167267	123684628	13046	23363											
CLEC12B	387837	broad.mit.edu	37	chr12	10168306	10168306	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttggttctgggaagatggCtctgttccctctccatcctt	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000338896.5	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	220	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(658-660)ggC>ggA		C-type lectin domain family 12, member B							150	140	143					12																	10168306		2203	4300	6503	SO:0001819	synonymous_variant	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10168306C>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.660C>A	12.37:g.10168306C>A						RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.G220G	p.G220G	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			5	788	+			220			C-type lectin.		Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	c.660C>A	CCDS44830.1																																																																																				0.408	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		114	423	1	0	3.0332e-58	1	3.802e-58	114	423					A	10168306	C	A	10168306	2	1	79	1	0	0	0	0	0	0	0	1	3507	784	28	3		3	CLEC12B	12	10168306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1039	10168306	123683589	13047	23364											
CLEC9A	283420	broad.mit.edu	37	chr12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcatgggattattaacaGcatccattttcttgggcgtc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	50					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(148-150)Gca>Aca		C-type lectin domain family 9, member A							160	130	140					12																	10206926		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10206926G>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.148G>A	12.37:g.10206926G>A	ENSP00000348074:p.Ala50Thr						p.A50T	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			5	761	+			50					B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.148G>A	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920691	0.00498	.	.	ENSG00000197992	ENST00000355819	T	0.01313	5.02	3.89	-2.15	0.07102	.	0.672896	0.13056	N	0.417266	T	0.00440	0.0014	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	10	0.06365	T	0.9	.	7.9944	0.30258	0.4952:0.0:0.5048:0.0	.	50	Q6UXN8	CLC9A_HUMAN	T	50	ENSP00000348074:A50T	ENSP00000348074:A50T	A	+	1	0	CLEC9A	10098193	0.000000	0.05858	0.082000	0.20525	0.268000	0.26511	-0.467000	0.06664	-0.309000	0.08779	-0.423000	0.05987	GCA		0.323	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		30	179	0	0	0	1	0	30	179					A	10206926	G	A	10206926	3	1	79	1	0	0	0	0	1	0	0	0	3531	971	34	2	154	2	CLEC9A	12	10206926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38620	10206926	123644969	13048	23365											
C12orf59	120939	broad.mit.edu	37	chr12	10342543	10342543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggaggatcctggctgtggCtcactcccacagctccctgg	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10342543C>A	ENST00000381923.2	+	6	760	c.356C>A	c.(355-357)gCt>gAt	p.A119D	TMEM52B_ENST00000298530.3_Missense_Mutation_p.A99D|TMEM52B_ENST00000536952.1_Missense_Mutation_p.A119D			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	119						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGGCTGTGGCTCACTCCCAC	0.562																																						ENST00000298530.3																			0											c.(295-297)gCt>gAt		transmembrane protein 52B							89	78	81					12																	10342543		2203	4300	6503	SO:0001583	missense	120939							g.chr12:10342543C>A	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.356C>A	12.37:g.10342543C>A	ENSP00000371348:p.Ala119Asp					TMEM52B_ENST00000536952.1_Missense_Mutation_p.A119D|TMEM52B_ENST00000381923.2_Missense_Mutation_p.A119D	p.A99D	NM_153022.2	NP_694567.1					4	874	+								Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.296C>A		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567364	0.65651	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32753	1.44;1.44;1.44	4.39	4.39	0.52855	.	0.274240	0.30840	N	0.008771	T	0.43055	0.1230	L	0.56769	1.78	0.38368	D	0.944802	P;P	0.51351	0.944;0.944	P;P	0.52957	0.714;0.628	T	0.48703	-0.9012	10	0.54805	T	0.06	-8.5221	14.8378	0.70197	0.0:1.0:0.0:0.0	.	119;99	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	D	119;99;119	ENSP00000371348:A119D;ENSP00000298530:A99D;ENSP00000446102:A119D	ENSP00000298530:A99D	A	+	2	0	C12orf59	10233810	1.000000	0.71417	0.744000	0.31058	0.650000	0.38633	4.753000	0.62183	2.427000	0.82271	0.585000	0.79938	GCT		0.562	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		52	218	1	0	1.86633e-21	1	2.10207e-21	52	218					A	10342543	C	A	10342543	3	1	79	1	0	0	0	0	1	0	0	0	1707	797	28	3	310	3	C12orf59	12	10342543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135617	10342543	123509352	13049	23366											
GABARAPL1	23710	broad.mit.edu	37	chr12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacagtgatgagagtgtcTatgggaaatgagtggttgga	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000266458.5	+	4	668	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	GABARAPL1_ENST00000546017.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	115		Cleavage; by RavZ.			autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498																																					Melanoma(3;46 76 4652 22680 42285)	ENST00000546017.1																			0				NS(1)|lung(1)	2						c.(73-75)Tat>Cat		GABA(A) receptor-associated protein like 1							107	99	101					12																	10374440		2203	4300	6503	SO:0001583	missense	23710					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding	g.chr12:10374440T>C	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.343T>C	12.37:g.10374440T>C	ENSP00000266458:p.Tyr115His					GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000266458.5_Missense_Mutation_p.Y115H	p.Y25H			Q9H0R8	GBRL1_HUMAN			4	1012	+			115					B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	37	c.73T>C	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622355	0.46840	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50813	0.79;0.73;0.79;0.73;0.73;0.73	5.43	5.43	0.79202	.	0.085531	0.50627	N	0.000110	T	0.60637	0.2284	M	0.86573	2.825	0.31322	N	0.685925	B	0.15719	0.014	B	0.34931	0.192	T	0.67948	-0.5538	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.0:1.0	.	115	Q9H0R8	GBRL1_HUMAN	H	115;25;115;25;25;25	ENSP00000266458:Y115H;ENSP00000439734:Y25H;ENSP00000444186:Y115H;ENSP00000446456:Y25H;ENSP00000444738:Y25H;ENSP00000444209:Y25H	ENSP00000266458:Y115H	Y	+	1	0	GABARAPL1	10265707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.060000	0.61445	0.533000	0.62120	TAT		0.498	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1			45	174	0	0	0	1	0	45	174					C	10374440	T	C	10374440	3	2	79	1	0	0	0	0	1	0	0	0	6180	1522	53	4	357	4	GABARAPL1	12	10374440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31897	10374440	123477455	13050	23367											
KLRC3	3823	broad.mit.edu	37	chr12	10568293	10568293	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctttaattctaaagcTtatgctcacaatgattcttg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10568293T>G	ENST00000396439.2	-	6	723				NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.S230R	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3						cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATTCTAAAGCTTATGCTCACA	0.343																																						ENST00000381903.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(688-690)Agc>Cgc		killer cell lectin-like receptor subfamily C, member 3							105	91	96					12																	10568293		2203	4300	6503	SO:0001627	intron_variant	3823							g.chr12:10568293T>G	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.678+9A>C	12.37:g.10568293T>G						KLRC3_ENST00000396439.2_Intron|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Intron	p.S230R	NM_007333.2	NP_031359.2					6	687	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.688A>C	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762789	0.31228	.	.	ENSG00000205810	ENST00000381903	T	0.01685	4.69	2.48	-0.255	0.12988	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.09310	N	1	B	0.26041	0.14	B	0.28849	0.095	T	0.48958	-0.8988	8	0.29301	T	0.29	.	5.0732	0.14617	0.4911:0.0:0.0:0.5089	.	230	Q07444-2	.	R	230	ENSP00000371328:S230R	ENSP00000371328:S230R	S	-	1	0	KLRC3	10459560	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	2.003000	0.40844	-0.061000	0.13110	-0.503000	0.04515	AGC		0.343	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		39	182	0	0	0	1	0	39	182					G	10568293	T	G	10568293	1	3	79	0	1	0	0	0	0	0	0	0	8447	1609	56	4		4	KLRC3	12	10568293	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193853	10568293	123283602	13051	23368											
MAGOHB	55110	broad.mit.edu	37	chr12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcactgtcatcaataattctCttcagttcttccattacact	2	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	63					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373																																						ENST00000320756.2																			0				breast(2)|large_intestine(2)	4						c.(187-189)aaG>aaT		mago-nashi homolog B (Drosophila)							117	117	117					12																	10762505		2203	4300	6503	SO:0001583	missense	55110				mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding	g.chr12:10762505C>A		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.189G>T	12.37:g.10762505C>A	ENSP00000319240:p.Lys63Asn					MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	p.K63N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN			3	279	-			63						Missense_Mutation	SNP	ENST00000320756.2	37	c.189G>T	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713933	0.68730	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	2.8	0.32819	.	0.000000	0.85682	U	0.000000	T	0.71151	0.3306	M	0.93678	3.445	0.80722	D	1	P	0.40180	0.705	B	0.44108	0.441	T	0.73490	-0.3966	9	0.87932	D	0	.	6.4197	0.21736	0.0:0.7092:0.0:0.2908	.	63	Q96A72	MGN2_HUMAN	N	17;63	.	ENSP00000319240:K63N	K	-	3	2	MAGOHB	10653772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.879000	0.35944	0.591000	0.81541	AAG		0.373	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048		21	131	1	0	9.57634e-11	1	1.01752e-10	21	131					A	10762505	C	A	10762505	3	1	79	1	0	0	0	0	1	0	0	0	9236	912	32	3	269	3	MAGOHB	12	10762505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194212	10762505	123089390	13052	23369											
STYK1	55359	broad.mit.edu	37	chr12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacttcaggatacggtgGtgctcctgtcattacgaaaa	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(973-975)Cca>Tca		serine/threonine/tyrosine kinase 1							178	167	171					12																	10774566		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10774566G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.973C>T	12.37:g.10774566G>A	ENSP00000075503:p.Pro325Ser	HNSCC(73;0.22)					p.P325S	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			10	1493	-			325			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.973C>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000060140	ENST00000075503	T	0.70631	-0.5	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082542	0.51477	D	0.000083	T	0.61160	0.2325	L	0.31120	0.905	0.48632	D	0.999687	P	0.38677	0.642	B	0.43052	0.406	T	0.58584	-0.7611	10	0.02654	T	1	-12.4581	16.6127	0.84892	0.0:0.0:1.0:0.0	.	325	Q6J9G0	STYK1_HUMAN	S	325	ENSP00000075503:P325S	ENSP00000075503:P325S	P	-	1	0	STYK1	10665833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.090000	0.71397	2.514000	0.84764	0.655000	0.94253	CCA		0.423	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		81	323	0	0	0	1	0	81	323					A	10774566	G	A	10774566	3	1	79	1	0	0	0	0	1	0	0	0	15411	1261	44	2	303	2	STYK1	12	10774566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12061	10774566	123077329	13053	23370											
TAS2R9	50835	broad.mit.edu	37	chr12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctttggaacactaataAttaaagagataagaaaggac	7	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	143					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(427-429)aTt>aGt		taste receptor, type 2, member 9							52	55	54					12																	10962247		2203	4298	6501	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962247A>C	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.428T>G	12.37:g.10962247A>C	ENSP00000240691:p.Ile143Ser						p.I143S	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	520	-			143					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.428T>G	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469142	0.26423	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.959327	0.08425	U	0.947811	T	0.29850	0.0746	L	0.52011	1.625	0.09310	N	1	P	0.45078	0.85	B	0.39027	0.288	T	0.24404	-1.0161	10	0.62326	D	0.03	.	5.1001	0.14754	0.6463:0.0:0.3537:0.0	.	143	Q9NYW1	TA2R9_HUMAN	S	143	ENSP00000240691:I143S	ENSP00000240691:I143S	I	-	2	0	TAS2R9	10853514	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.646000	0.01998	0.639000	0.30564	0.528000	0.53228	ATT		0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			47	249	0	0	0	1	0	47	249					C	10962247	A	C	10962247	3	2	79	1	0	0	0	0	1	0	0	0	15640	101	4	4	514	4	TAS2R9	12	10962247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187681	10962247	122889648	13054	23371											
TAS2R9	50835	broad.mit.edu	37	chr12	10962425	10962425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagacaacattcacaaTgcttactagcacgctattgc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962425T>C	ENST00000240691.2	-	1	342	c.250A>G	c.(250-252)Att>Gtt	p.I84V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	84					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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATTCACAATGCTTACTAGC	0.408																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)Att>Gtt		taste receptor, type 2, member 9							106	102	103					12																	10962425		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962425T>C	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.250A>G	12.37:g.10962425T>C	ENSP00000240691:p.Ile84Val						p.I84V	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	342	-			84					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.250A>G	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	5.649	0.304332	0.10678	.	.	ENSG00000121381	ENST00000240691	T	0.00808	5.67	4.37	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.203864	0.28241	U	0.016077	T	0.00815	0.0027	L	0.37507	1.11	0.09310	N	1	P	0.35077	0.483	B	0.36464	0.225	T	0.50423	-0.8830	10	0.24483	T	0.36	.	4.9559	0.14038	0.0:0.1759:0.2612:0.5629	.	84	Q9NYW1	TA2R9_HUMAN	V	84	ENSP00000240691:I84V	ENSP00000240691:I84V	I	-	1	0	TAS2R9	10853692	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.895000	0.04118	-0.268000	0.09312	-0.361000	0.07541	ATT		0.408	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			8	393	0	0	0	1	0	8	393					C	10962425	T	C	10962425	3	2	79	1	0	0	0	0	1	0	0	0	15640	1464	51	4	692	4	TAS2R9	12	10962425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178	10962425	122889470	13055	23372											
TAS2R10	50839	broad.mit.edu	37	chr12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttgctatcttcaggaAatagaagatgctgaggctgg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(319-321)Ttc>Gtc		taste receptor, type 2, member 10							60	65	63					12																	10978550		2203	4297	6500	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978550A>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.319T>G	12.37:g.10978550A>C	ENSP00000240619:p.Phe107Val						p.F107V	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	407	-			107					Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.319T>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422233	0.62622	.	.	ENSG00000121318	ENST00000240619	T	0.39056	1.1	4.67	4.67	0.58626	.	0.232278	0.33235	N	0.005138	T	0.65637	0.2710	M	0.90483	3.12	0.26369	N	0.976916	D	0.64830	0.994	D	0.69479	0.964	T	0.62369	-0.6869	10	0.59425	D	0.04	.	7.9563	0.30045	0.8171:0.0:0.0:0.1829	.	107	Q9NYW0	T2R10_HUMAN	V	107	ENSP00000240619:F107V	ENSP00000240619:F107V	F	-	1	0	TAS2R10	10869817	0.817000	0.29147	1.000000	0.80357	0.959000	0.62525	2.207000	0.42788	1.868000	0.54150	0.482000	0.46254	TTC		0.343	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			48	245	0	0	0	1	0	48	245					C	10978550	A	C	10978550	3	2	79	1	0	0	0	0	1	0	0	0	15618	14	1	4	608	4	TAS2R10	12	10978550	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16125	10978550	122873345	13056	23373											
TAS2R14	50840	broad.mit.edu	37	chr12	11091357	11091357	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatactggcatttatatgGatgtttatcagtgcaatatt	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	150					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353																																						ENST00000537503.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(448-450)atC>atT		taste receptor, type 2, member 14							68	70	69					12																	11091357		2203	4300	6503	SO:0001819	synonymous_variant	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091357G>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.450C>T	12.37:g.11091357G>A						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I150I	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN			1	505	-			150					Q645X3	Silent	SNP	ENST00000537503.1	37	c.450C>T	CCDS8637.1																																																																																				0.353	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		66	296	0	0	0	1	0	66	296					A	11091357	G	A	11091357	2	1	79	1	0	0	0	0	0	0	0	1	15620	1164	41	2		2	TAS2R14	12	11091357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112807	11091357	122760538	13057	23374											
PRB3	5544	broad.mit.edu	37	chr12	11420871	11420871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggactggtttcctccttgTgggggttgtccttctggctt	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000538488.1_Silent_p.P104P|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	104	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							146	179	168					12																	11420871		2031	4209	6240	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420871T>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.312A>G	12.37:g.11420871T>C						PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	349	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		378	1640	0	0	0	1	0	378	1640					C	11420871	T	C	11420871	2	2	79	1	0	0	0	0	0	0	0	1	12491	1683	59	4		4	PRB3	12	11420871	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	329514	11420871	122431024	13058	23375											
PRB2	653247	broad.mit.edu	37	chr12	11546844	11546844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggtggtccttgtggCtttcctggaggagatggggg	21	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11546844C>A	ENST00000389362.4	-	3	203	c.168G>T	c.(166-168)aaG>aaT	p.K56N	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	56	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.567																																						ENST00000389362.4																			2	Unknown(1)|Deletion - In frame(1)	p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(166-168)aaG>aaT		proline-rich protein BstNI subfamily 2							128	144	138					12																	11546844		2166	4280	6446	SO:0001583	missense	653247							g.chr12:11546844C>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.168G>T	12.37:g.11546844C>A	ENSP00000374013:p.Lys56Asn					PRB1_ENST00000546254.1_Intron	p.K56N	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	203	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.168G>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	2.222	-0.378164	0.05000	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	2.0	-4.01	0.04045	.	.	.	.	.	T	0.03095	0.0091	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43278	-0.9401	9	0.48119	T	0.1	.	0.4531	0.00504	0.2431:0.1483:0.3146:0.2939	.	56	P02812	PRB2_HUMAN	N	56	ENSP00000374013:K56N	ENSP00000374013:K56N	K	-	3	2	PRB2	11438111	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.841000	0.01683	-1.813000	0.01226	-1.753000	0.00675	AAG		0.567	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		63	1368	1	0	1.30897e-18	1	1.45408e-18	63	1368					A	11546844	C	A	11546844	3	1	79	1	0	0	0	0	1	0	0	0	12490	796	28	3	1086	3	PRB2	12	11546844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125973	11546844	122305051	13059	23376											
ETV6	2120	broad.mit.edu	37	chr12	12022779	12022779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccaggctctccgaggaCgggctgcatagggaagggaa	16	10	1	0	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	295					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTCCGAGGACGGGCTGCATA	0.592			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(883-885)gaC>gaT		ets variant 6		C		0,4406		0,0,2203	90	90	90		885	2.4	1	12	dbSNP_134	90	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	ETV6	NM_001987.4		0,10,6493	TT,TC,CC		0.1163,0.0,0.0769		295/453	12022779	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022779C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.885C>T	12.37:g.12022779C>T							p.D295D	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			5	1159	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	295					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.885C>T	CCDS8643.1																																																																																				0.592	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		80	522	0	0	0	1	0	80	522					T	12022779	C	T	12022779	2	4	79	1	0	0	0	0	0	0	0	1	5301	535	19	1		1	ETV6	12	12022779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475935	12022779	121829116	13060	23377											
LRP6	4040	broad.mit.edu	37	chr12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggggggtgcaaagtGccggtagctatatggcctgt	18	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000261349.4	-	23	4646	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTGCAAAGTGCCGGTAGCTA	0.458																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4570-4572)Cac>Tac		low density lipoprotein receptor-related protein 6							97	100	99					12																	12274332		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274332G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4570C>T	12.37:g.12274332G>A	ENSP00000261349:p.His1524Tyr					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	p.H1524Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4646	-		Prostate(47;0.0865)	1524					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4570C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343291	0.41498	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92965	-3.08;-3.14	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	D	0.90208	0.6939	L	0.43152	1.355	0.58432	D	0.999998	P;B	0.46912	0.886;0.012	B;B	0.41510	0.359;0.008	D	0.90167	0.4232	10	0.49607	T	0.09	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Y	1524;1479	ENSP00000261349:H1524Y;ENSP00000442472:H1479Y	ENSP00000261349:H1524Y	H	-	1	0	LRP6	12165599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.044000	0.71012	2.780000	0.95670	0.643000	0.83706	CAC		0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			85	538	0	0	0	1	0	85	538					A	12274332	G	A	12274332	3	1	79	1	0	0	0	0	1	0	0	0	9000	1319	46	2	275	2	LRP6	12	12274332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251553	12274332	121577563	13061	23378											
LRP6	4040	broad.mit.edu	37	chr12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagctctgtctatcttaGgttttccaccccattcagtc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000261349.4	-	11	2388	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	771	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTATCTTAGGTTTTCCACC	0.358																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2311-2313)cCt>cAt		low density lipoprotein receptor-related protein 6							117	106	110					12																	12312866		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12312866G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2312C>A	12.37:g.12312866G>T	ENSP00000261349:p.Pro771His					LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			11	2388	-		Prostate(47;0.0865)	771			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2312C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311587	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96685	-4.09;-4.09	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.98701	0.9564	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98922	1.0784	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	771;771	F5H7J9;O75581	.;LRP6_HUMAN	H	771	ENSP00000261349:P771H;ENSP00000442472:P771H	ENSP00000261349:P771H	P	-	2	0	LRP6	12204133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CCT		0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			88	455	1	0	1.17954e-47	1	1.45276e-47	88	455					T	12312866	G	T	12312866	3	4	79	1	0	0	0	0	1	0	0	0	9000	1000	35	3	2581	3	LRP6	12	12312866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38534	12312866	121539029	13062	23379											
LRP6	4040	broad.mit.edu	37	chr12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctaactgcagaacaatgtCtgtaaaatctggtgtatcca	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000261349.4	-	6	1127	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	351	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAACAATGTCTGTAAAATCT	0.423																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1051-1053)Gac>Aac		low density lipoprotein receptor-related protein 6							135	124	127					12																	12334299		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334299C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1051G>A	12.37:g.12334299C>T	ENSP00000261349:p.Asp351Asn					LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1127	-		Prostate(47;0.0865)	351			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1051G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619377	0.66787	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.93621	0.7963	L	0.55990	1.75	0.80722	D	1	D;P	0.71674	0.998;0.721	D;B	0.66351	0.943;0.32	D	0.90785	0.4682	10	0.22109	T	0.4	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	351;351	F5H7J9;O75581	.;LRP6_HUMAN	N	351	ENSP00000261349:D351N;ENSP00000442472:D351N	ENSP00000261349:D351N	D	-	1	0	LRP6	12225566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.752000	0.94435	0.655000	0.94253	GAC		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			33	464	0	0	0	1	0	33	464					T	12334299	C	T	12334299	3	4	79	1	0	0	0	0	1	0	0	0	9000	913	32	2	3862	2	LRP6	12	12334299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21433	12334299	121517596	13063	23380											
MANSC1	54682	broad.mit.edu	37	chr12	12483765	12483765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctctccatgagatatcGgtgggctttgaataatctgt	11	7	2	2	rs375298595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000396349.3_Silent_p.T130T|MANSC1_ENST00000545735.1_Silent_p.T83T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	164						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGAGATATCGGTGGGCTTTG	0.453																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(490-492)acC>acT		MANSC domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	93	89	90		492	-7.1	0	12		90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MANSC1	NM_018050.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		164/432	12483765	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483765G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.492C>T	12.37:g.12483765G>A						MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T	p.T164T			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1055	-		Prostate(47;0.0865)	164					Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.492C>T	CCDS8648.1																																																																																				0.453	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		9	453	0	0	0	1	0	9	453					A	12483765	G	A	12483765	2	1	79	1	0	0	0	0	0	0	0	1	9265	1103	39	1		1	MANSC1	12	12483765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149466	12483765	121368130	13064	23381											
MANSC1	54682	broad.mit.edu	37	chr12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaattctgactagcagacaGccttagtgtcaggaagcaaa	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	23						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTAGCAGACAGCCTTAGTGTC	0.403																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(67-69)Ctg>Atg		MANSC domain containing 1							122	113	116					12																	12496182		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12496182G>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.67C>A	12.37:g.12496182G>T	ENSP00000438205:p.Leu23Met					MANSC1_ENST00000396349.3_Intron	p.L23M			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	2	630	-		Prostate(47;0.0865)	23					Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.67C>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660531	0.29515	.	.	ENSG00000111261	ENST00000535902;ENST00000543314	T;T	0.49139	2.2;0.79	5.33	4.43	0.53597	.	0.762541	0.10293	N	0.692124	T	0.49983	0.1589	L	0.29908	0.895	0.09310	N	0.999992	D	0.64830	0.994	P	0.57371	0.819	T	0.33292	-0.9874	10	0.54805	T	0.06	0.5003	8.0655	0.30659	0.0867:0.1588:0.7545:0.0	.	23	Q9H8J5	MANS1_HUMAN	M	23	ENSP00000438205:L23M;ENSP00000437624:L23M	ENSP00000438205:L23M	L	-	1	2	MANSC1	12387449	0.026000	0.19158	0.056000	0.19401	0.210000	0.24377	1.945000	0.40273	1.198000	0.43158	0.655000	0.94253	CTG		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		64	330	1	0	3.57465e-26	1	4.11543e-26	64	330					T	12496182	G	T	12496182	3	4	79	1	0	0	0	0	1	0	0	0	9265	962	34	3	1240	3	MANSC1	12	12496182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12417	12496182	121355713	13065	23382											
DUSP16	80824	broad.mit.edu	37	chr12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggtaattgtcctccaCgctcccacttcgatgcagtg	11	12	0	0	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	509					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V509M(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGTCCTCCACGCTCCCACTT	0.587													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19718	0.0		0.0	False		,,,				2504	0.0				Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.V509M(1)	endometrium(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1525-1527)Gtg>Atg		dual specificity phosphatase 16		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59	58	58		1525	4.3	1	12	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP16	NM_030640.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	509/666	12630240	2,13004	2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630240C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1525G>A	12.37:g.12630240C>T	ENSP00000228862:p.Val509Met					DUSP16_ENST00000298573.4_3'UTR	p.V509M	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2156	-		Prostate(47;0.0687)	509					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1525G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789841	0.16258	2.27E-4	1.16E-4	ENSG00000111266	ENST00000228862	T	0.01963	4.53	5.21	4.32	0.51571	.	0.462115	0.19659	N	0.109008	T	0.01661	0.0053	L	0.31065	0.9	0.80722	D	1	P;P	0.36315	0.487;0.547	B;B	0.18263	0.015;0.021	T	0.64711	-0.6343	10	0.37606	T	0.19	.	8.5603	0.33507	0.0:0.7711:0.0:0.2289	.	509;509	Q9BY84;Q96N49	DUS16_HUMAN;.	M	509	ENSP00000228862:V509M	ENSP00000228862:V509M	V	-	1	0	DUSP16	12521507	0.380000	0.25131	0.982000	0.44146	0.714000	0.41099	0.323000	0.19593	1.423000	0.47198	0.655000	0.94253	GTG		0.587	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		78	383	0	0	0	1	0	78	383					T	12630240	C	T	12630240	3	4	79	1	0	0	0	0	1	0	0	0	4832	536	19	1	476	1	DUSP16	12	12630240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134058	12630240	121221655	13066	23383											
GPR19	2842	broad.mit.edu	37	chr12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggcttgctgttatccattCtgtgagcaaaaaccatattc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTATCCATTCTGTGAGCAAA	0.428																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(16-18)aGa>aTa		G protein-coupled receptor 19							93	91	92					12																	12815366		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815366C>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.17G>T	12.37:g.12815366C>A	ENSP00000441832:p.Arg6Ile					GPR19_ENST00000332427.2_Missense_Mutation_p.R6I	p.R6I			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	209	-		Prostate(47;0.0802)	6					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.17G>T	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041348	0.19669	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.43	2.44	0.29823	.	0.304358	0.28853	N	0.013925	T	0.45458	0.1343	N	0.14661	0.345	0.41650	D	0.989128	B	0.23735	0.09	B	0.15484	0.013	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.887	9.0393	0.36307	0.0:0.6096:0.2469:0.1435	.	6	Q15760	GPR19_HUMAN	I	6	ENSP00000441832:R6I;ENSP00000333744:R6I	ENSP00000333744:R6I	R	-	2	0	GPR19	12706633	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.121000	0.31283	0.828000	0.34709	-0.150000	0.13652	AGA		0.428	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		89	461	1	0	8.34767e-46	1	1.02437e-45	89	461					A	12815366	C	A	12815366	3	1	79	1	0	0	0	0	1	0	0	0	6708	913	32	3	1234	3	GPR19	12	12815366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185126	12815366	121036529	13067	23384											
DDX47	51202	broad.mit.edu	37	chr12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttctttttcttttaggtCgtgatatcattgggcttgca	8	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	62	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(184-186)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							68	67	68					12																	12974144		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974144C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.184C>T	12.37:g.12974144C>T	ENSP00000350698:p.Arg62Cys					DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR|RP11-59H1.3_ENST00000534843.1_3'UTR	p.R62C	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	3	206	+		Prostate(47;0.0526)	62			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.184C>T	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821218	0.71028	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.16743	2.32;2.32	5.6	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000009	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;P	0.72338	0.977;0.977;0.911;0.887	T	0.41448	-0.9508	10	0.87932	D	0	-5.6338	14.3519	0.66708	0.2828:0.7172:0.0:0.0	.	62;62;62;62	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	C	62	ENSP00000319578:R62C;ENSP00000350698:R62C	ENSP00000319578:R62C	R	+	1	0	DDX47	12865411	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	1.327000	0.45338	0.555000	0.69702	CGT		0.448	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		78	401	0	0	0	1	0	78	401					T	12974144	C	T	12974144	3	4	79	1	0	0	0	0	1	0	0	0	4376	884	31	1	194	1	DDX47	12	12974144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158778	12974144	120877751	13068	23385											
DDX47	51202	broad.mit.edu	37	chr12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaggtttcaacttgagAgctctcaaatacttggtcat	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	166	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(496-498)agA>agC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							93	88	90					12																	12974954		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974954A>C	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.498A>C	12.37:g.12974954A>C	ENSP00000350698:p.Arg166Ser					DDX47_ENST00000352940.4_Missense_Mutation_p.R166S|RP11-59H1.3_ENST00000534843.1_3'UTR	p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	5	520	+		Prostate(47;0.0526)	166			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.498A>C	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205868	0.58234	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.04162	-0.26	0.58432	D	0.999999	B;B;B	0.27559	0.004;0.003;0.181	B;B;B	0.36335	0.02;0.012;0.222	T	0.12400	-1.0549	10	0.02654	T	1	-22.6156	16.4323	0.83853	1.0:0.0:0.0:0.0	.	166;166;166	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	166;166;103	ENSP00000319578:R166S;ENSP00000350698:R166S;ENSP00000444000:R103S	ENSP00000319578:R166S	R	+	3	2	DDX47	12866221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.358000	0.59442	2.281000	0.76405	0.528000	0.53228	AGA		0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		53	275	0	0	0	1	0	53	275					C	12974954	A	C	12974954	3	2	79	1	0	0	0	0	1	0	0	0	4376	301	11	4	516	4	DDX47	12	12974954	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	810	12974954	120876941	13069	23386											
DDX47	51202	broad.mit.edu	37	chr12	12976838	12976838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatattctaaatgaattggCtggaaactcctttatgatat	6	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12976838C>A	ENST00000358007.3	+	8	807	c.785C>A	c.(784-786)gCt>gAt	p.A262D	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	262	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AATGAATTGGCTGGAAACTCC	0.423																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(784-786)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							180	177	178					12																	12976838		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976838C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.785C>A	12.37:g.12976838C>A	ENSP00000350698:p.Ala262Asp					DDX47_ENST00000352940.4_Intron|RP11-59H1.3_ENST00000534843.1_3'UTR	p.A262D	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	807	+		Prostate(47;0.0526)	262			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.785C>A	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743634	0.69418	.	.	ENSG00000213782	ENST00000358007	T	0.04603	3.59	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.16266	0.395	0.80722	D	1	B;D	0.52996	0.019;0.957	B;P	0.50440	0.015;0.641	T	0.47983	-0.9074	10	0.35671	T	0.21	-16.6468	19.4703	0.94961	0.0:1.0:0.0:0.0	.	262;262	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	D	262	ENSP00000350698:A262D	ENSP00000350698:A262D	A	+	2	0	DDX47	12868105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.578000	0.82498	2.600000	0.87896	0.561000	0.74099	GCT		0.423	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		15	713	1	0	0.000422831	1	0.000428653	15	713					A	12976838	C	A	12976838	3	1	79	1	0	0	0	0	1	0	0	0	4376	797	28	3	815	3	DDX47	12	12976838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1884	12976838	120875057	13070	23387											
GPRC5D	55507	broad.mit.edu	37	chr12	13102917	13102917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcaacagactgcaaccAatagcaatgcacagaattgt	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACTGCAACCAATAGCAATGC	0.463																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(400-402)atT>atC		G protein-coupled receptor, family C, group 5, member D							110	95	100					12																	13102917		2203	4300	6503	SO:0001819	synonymous_variant	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102917A>G	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.402T>C	12.37:g.13102917A>G						RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	p.I134I	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	401	-		Prostate(47;0.183)	134					Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	c.402T>C	CCDS8658.1																																																																																				0.463	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			61	266	0	0	0	1	0	61	266					G	13102917	A	G	13102917	2	3	79	1	0	0	0	0	0	0	0	1	6757	126	5	4		4	GPRC5D	12	13102917	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126079	13102917	120748978	13071	23388											
KIAA1467	57613	broad.mit.edu	37	chr12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgtgtgctttcctgAtcccctgtcctcccagagat	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	125						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTTCCTGATCCCCTGTCC	0.577																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(373-375)Atc>Gtc		KIAA1467							59	52	54					12																	13208820		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208820A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.373A>G	12.37:g.13208820A>G	ENSP00000197268:p.Ile125Val						p.I125V	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	493	+		Prostate(47;0.184)	125					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.373A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.959419	0.53400	.	.	ENSG00000084444	ENST00000197268	T	0.21543	2.0	5.33	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);	0.120006	0.56097	D	0.000024	T	0.21631	0.0521	M	0.66939	2.045	0.34721	D	0.728697	P	0.38223	0.623	B	0.36186	0.219	T	0.30592	-0.9973	10	0.28530	T	0.3	-24.0397	10.5842	0.45273	0.9248:0.0:0.0752:0.0	.	125	A2RU67	K1467_HUMAN	V	125	ENSP00000197268:I125V	ENSP00000197268:I125V	I	+	1	0	KIAA1467	13100087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.481000	0.60250	2.020000	0.59435	0.487000	0.48397	ATC		0.577	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		72	271	0	0	0	1	0	72	271					G	13208820	A	G	13208820	3	3	79	1	0	0	0	0	1	0	0	0	8265	333	12	4	379	4	KIAA1467	12	13208820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105903	13208820	120643075	13072	23389											
KIAA1467	57613	broad.mit.edu	37	chr12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataaagtttgttgaagctCcctacgaggtgagtggctgc	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	619						integral component of membrane (GO:0016021)		p.P619S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTTGAAGCTCCCTACGAGGT	0.478																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.P619S(1)	skin(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(1855-1857)Ccc>Tcc		KIAA1467							30	34	33					12																	13232935		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13232935C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1855C>T	12.37:g.13232935C>T	ENSP00000197268:p.Pro619Ser						p.P619S	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	12	1975	+		Prostate(47;0.184)	619					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1855C>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845378	0.32606	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	3.45	0.39498	.	0.515087	0.20509	N	0.090937	T	0.35998	0.0951	L	0.29908	0.895	0.36344	D	0.859672	B	0.33940	0.433	B	0.33890	0.172	T	0.45600	-0.9250	9	0.52906	T	0.07	-14.8978	5.5861	0.17275	0.1414:0.644:0.1372:0.0775	.	619	A2RU67	K1467_HUMAN	S	619	.	ENSP00000197268:P619S	P	+	1	0	KIAA1467	13124202	1.000000	0.71417	0.995000	0.50966	0.431000	0.31685	1.421000	0.34815	2.540000	0.85666	0.650000	0.86243	CCC		0.478	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		12	111	0	0	0	1	0	12	111					T	13232935	C	T	13232935	3	4	79	1	0	0	0	0	1	0	0	0	8265	855	30	2	1901	2	KIAA1467	12	13232935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24115	13232935	120618960	13073	23390											
GRIN2B	2904	broad.mit.edu	37	chr12	13716563	13716563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtcctcccactccacGttggtcaggttcttctccca	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1203					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCACTCCACGTTGGTCAGGT	0.637																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3607-3609)aaC>aaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94	101	99					12																	13716563		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716563G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3609C>T	12.37:g.13716563G>A							p.N1203N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3818	-			1203					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3609C>T	CCDS8662.1																																																																																				0.637	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			144	465	0	0	0	1	0	144	465					A	13716563	G	A	13716563	2	1	79	1	0	0	0	0	0	0	0	1	6810	1136	40	1		1	GRIN2B	12	13716563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	483628	13716563	120135332	13074	23391											
GRIN2B	2904	broad.mit.edu	37	chr12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactggcgctcctcgatcGccaccccatggatgcagctg	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000609686.1	-	13	2836	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	876					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCTCGATCGCCACCCCATG	0.542																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2626-2628)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96	88	91					12																	13717545		2199	4294	6493	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717545G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2627C>T	12.37:g.13717545G>A	ENSP00000477455:p.Ala876Val						p.A876V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2836	-			876					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2627C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311571	0.40895	.	.	ENSG00000150086	ENST00000279593	T	0.11495	2.77	5.3	5.3	0.74995	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.128335	0.56097	D	0.000035	T	0.12817	0.0311	L	0.29908	0.895	0.45634	D	0.998566	P	0.51537	0.946	P	0.45406	0.479	T	0.03795	-1.1003	10	0.36615	T	0.2	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	876	Q13224	NMDE2_HUMAN	V	876	ENSP00000279593:A876V	ENSP00000279593:A876V	A	-	2	0	GRIN2B	13608812	1.000000	0.71417	0.975000	0.42487	0.610000	0.37248	7.068000	0.76748	2.492000	0.84095	0.563000	0.77884	GCG		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			17	615	0	0	0	1	0	17	615					A	13717545	G	A	13717545	3	1	79	1	0	0	0	0	1	0	0	0	6810	1087	38	1	1831	1	GRIN2B	12	13717545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	982	13717545	120134350	13075	23392											
GRIN2B	2904	broad.mit.edu	37	chr12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgccatgttgtcaatgtCcagctggctgctcatgacct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	814					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTCAATGTCCAGCTGGCTG	0.527																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2440-2442)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						120	111	114					12																	13720117		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720117C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2440G>A	12.37:g.13720117C>T	ENSP00000477455:p.Asp814Asn						p.D814N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			12	2649	-			814					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2440G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560709	0.96527	.	.	ENSG00000150086	ENST00000279593	T	0.49720	0.77	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67300	-0.5705	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:1.0:0.0:0.0	.	814	Q13224	NMDE2_HUMAN	N	814	ENSP00000279593:D814N	ENSP00000279593:D814N	D	-	1	0	GRIN2B	13611384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.554000	0.86153	0.650000	0.86243	GAC		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			61	353	0	0	0	1	0	61	353					T	13720117	C	T	13720117	3	4	79	1	0	0	0	0	1	0	0	0	6810	855	30	2	2022	2	GRIN2B	12	13720117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572	13720117	120131778	13076	23393											
GRIN2B	2904	broad.mit.edu	37	chr12	13828724	13828724	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagaattatcaccagtttCgggtgcatctggtagccatc	10	9	2	2	rs201952040		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	360					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCAGTTTCGGGTGCATCT	0.373																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1078-1080)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127	124	125					12																	13828724		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828724C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1080G>A	12.37:g.13828724C>T							p.P360P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1289	-			360					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1080G>A	CCDS8662.1																																																																																				0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			66	343	0	0	0	1	0	66	343					T	13828724	C	T	13828724	2	4	79	1	0	0	0	0	0	0	0	1	6810	871	31	1		1	GRIN2B	12	13828724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108607	13828724	120023171	13077	23394											
GRIN2B	2904	broad.mit.edu	37	chr12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctcactctggcggggaGgccatagtcccattcatcat	9	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	289					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGCGGGGAGGCCATAGTCC	0.537																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(865-867)Ctc>Ttc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						95	85	88					12																	13906396		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906396G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.865C>T	12.37:g.13906396G>A	ENSP00000477455:p.Leu289Phe						p.L289F	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	1074	-			289					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.865C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846065	0.91277	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.85299	2.745	0.80722	D	1	P	0.34780	0.468	B	0.35278	0.199	T	0.02539	-1.1144	10	0.56958	D	0.05	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	289	Q13224	NMDE2_HUMAN	F	289	ENSP00000279593:L289F	ENSP00000279593:L289F	L	-	1	0	GRIN2B	13797663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.461000	0.73522	2.775000	0.95449	0.655000	0.94253	CTC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			37	222	0	0	0	1	0	37	222					A	13906396	G	A	13906396	3	1	79	1	0	0	0	0	1	0	0	0	6810	1000	35	2	3633	2	GRIN2B	12	13906396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77672	13906396	119945499	13078	23395											
ATF7IP	55729	broad.mit.edu	37	chr12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagctcaggctcccttgCgaggaactgttatgcaggct	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000540793.1	+	12	3384	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R1085*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1077					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3253-3255)Cga>Tga		activating transcription factor 7 interacting protein							80	78	79					12																	14634068		2203	4300	6503	SO:0001587	stop_gained	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634068C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3229C>T	12.37:g.14634068C>T	ENSP00000444589:p.Arg1077*					ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*	p.R1085*			Q6VMQ6	MCAF1_HUMAN			13	3573	+			1077					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	c.3253C>T	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.375134|9.375134	0.99151|0.99151	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|.	.|.	.|.	5.43|5.43	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|.	0.36220|.	0.0959|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25950|.	-1.0117|.	3|.	.|0.02654	.|T	.|1	-10.9841|-10.9841	15.726|15.726	0.77761|0.77761	0.1941:0.8059:0.0:0.0|0.1941:0.8059:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|1077;1076;1076;1085;1077	.|.	.|ENSP00000261168:R1077X	A|R	+|+	2|1	0|2	ATF7IP|ATF7IP	14525335|14525335	0.725000|0.725000	0.28048|0.28048	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.798000|1.798000	0.38814|0.38814	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.488	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		69	364	0	0	0	1	0	69	364					T	14634068	C	T	14634068	4	4	79	1	0	0	0	0	0	1	0	0	1088	760	27	1	3275	1	ATF7IP	12	14634068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	727672	14634068	119217827	13079	23396											
GUCY2C	2984	broad.mit.edu	37	chr12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctctggattgtatctcgtCttttgtcatcatcgatctgg	9	9	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTATCTCGTCTTTTGTCATC	0.473																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1486-1488)aGa>aTa		guanylate cyclase 2C (heat stable enterotoxin receptor)							322	253	277					12																	14805932		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14805932C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1487G>T	12.37:g.14805932C>A	ENSP00000261170:p.Arg496Ile						p.R496I	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			13	1623	-			496			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1487G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141560	0.77775	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.18	4.29	0.51040	Protein kinase, catalytic domain (1);	0.130033	0.64402	D	0.000001	T	0.80613	0.4656	L	0.47716	1.5	0.58432	D	0.999999	P	0.49307	0.922	P	0.50896	0.653	T	0.79485	-0.1784	10	0.38643	T	0.18	.	13.4927	0.61405	0.0:0.9232:0.0:0.0768	.	496	P25092	GUC2C_HUMAN	I	496	ENSP00000261170:R496I	ENSP00000261170:R496I	R	-	2	0	GUCY2C	14697199	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.709000	0.54853	1.295000	0.44724	0.655000	0.94253	AGA		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			192	653	1	0	1.74343e-85	1	2.23448e-85	192	653					A	14805932	C	A	14805932	3	1	79	1	0	0	0	0	1	0	0	0	6926	913	32	3	1794	3	GUCY2C	12	14805932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171864	14805932	119045963	13080	23397											
WBP11	51729	broad.mit.edu	37	chr12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcacttctcaccaagttcagGactatataacatgtcttcat	4	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	238					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(712-714)Cct>Act		WW domain binding protein 11							197	208	204					12																	14947480		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947480G>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.712C>A	12.37:g.14947480G>T	ENSP00000261167:p.Pro238Thr					WBP11_ENST00000537574.1_Missense_Mutation_p.P238T	p.P238T	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	945	-			238					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.712C>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355146	0.41700	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.411905	0.26072	N	0.026504	T	0.62344	0.2420	L	0.40543	1.245	0.48632	D	0.999686	D	0.64830	0.994	P	0.62885	0.908	T	0.54450	-0.8292	9	0.12766	T	0.61	-6.7753	14.7645	0.69629	0.0:0.0:1.0:0.0	.	238	Q9Y2W2	WBP11_HUMAN	T	238	.	ENSP00000261167:P238T	P	-	1	0	WBP11	14838747	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.762000	0.55250	2.437000	0.82529	0.655000	0.94253	CCT		0.428	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		63	1510	1	0	1.60099e-16	1	1.75945e-16	63	1510					T	14947480	G	T	14947480	3	4	79	1	0	0	0	0	1	0	0	0	17312	1174	41	3	1237	3	WBP11	12	14947480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141548	14947480	118904415	13081	23398											
ART4	420	broad.mit.edu	37	chr12	14995976	14995976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggcctccaaggagccaGattctcatcgttgcaggagg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	24					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(70-72)atC>atT		ADP-ribosyltransferase 4							109	97	101					12																	14995976		2203	4300	6503	SO:0001819	synonymous_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14995976G>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.72C>T	12.37:g.14995976G>A						RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	p.I24I	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			1	453	-			24					Q9BZ50|Q9BZ51|Q9HB06	Silent	SNP	ENST00000228936.4	37	c.72C>T	CCDS8668.1																																																																																				0.522	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		38	154	0	0	0	1	0	38	154					A	14995976	G	A	14995976	2	1	79	1	0	0	0	0	0	0	0	1	1000	932	33	2		2	ART4	12	14995976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48496	14995976	118855919	13082	23399											
RERG	85004	broad.mit.edu	37	chr12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagctttgtttccaaCcaagatgagagtcacattct	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_ENST00000546331.1_Missense_Mutation_p.V97I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG-IT1_ENST00000539734.1_RNA	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	116					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(346-348)Gtt>Att		RAS-like, estrogen-regulated, growth inhibitor							261	242	248					12																	15262298		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262298C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.346G>A	12.37:g.15262298C>T	ENSP00000256953:p.Val116Ile					RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I	p.V116I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	682	-			116					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.346G>A	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696700	0.88830	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.056076	0.64402	D	0.000001	D	0.87398	0.6167	L	0.58669	1.825	0.80722	D	1	P;P	0.46395	0.877;0.651	P;P	0.53861	0.736;0.736	D	0.87856	0.2661	10	0.59425	D	0.04	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	97;116	B4DI02;Q96A58	.;RERG_HUMAN	I	116;116;116;97	ENSP00000256953:V116I;ENSP00000441505:V116I;ENSP00000438280:V116I;ENSP00000444485:V97I	ENSP00000256953:V116I	V	-	1	0	RERG	15153565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.654000	0.90174	0.655000	0.94253	GTT		0.473	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		216	858	0	0	0	1	0	216	858					T	15262298	C	T	15262298	3	4	79	1	0	0	0	0	1	0	0	0	13282	507	18	2	257	2	RERG	12	15262298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266322	15262298	118589597	13083	23400											
RERG	85004	broad.mit.edu	37	chr12	15370385	15370385	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacttgcccacgcctgctctCccaaatattgccagtttgac	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000546331.1_Silent_p.G13G|RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	13					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(37-39)ggG>ggT		RAS-like, estrogen-regulated, growth inhibitor							289	240	256					12																	15370385		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15370385C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.39G>T	12.37:g.15370385C>A						RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G	p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			2	375	-			13					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.39G>T	CCDS8673.1																																																																																				0.418	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		141	544	1	0	1.9732e-51	1	2.44871e-51	141	544					A	15370385	C	A	15370385	2	1	79	1	0	0	0	0	0	0	0	1	13282	842	30	3		3	RERG	12	15370385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108087	15370385	118481510	13084	23401											
PTPRO	5800	broad.mit.edu	37	chr12	15654735	15654735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgggcaacatttcttcCggttggcctgattttaatag	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	281	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(841-843)tcC>tcT		protein tyrosine phosphatase, receptor type, O							67	64	65					12																	15654735		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654735C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.843C>T	12.37:g.15654735C>T						PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			5	1173	+		Hepatocellular(102;0.244)	281			Fibronectin type-III 3.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.843C>T	CCDS8675.1																																																																																				0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			38	223	0	0	0	1	0	38	223					T	15654735	C	T	15654735	2	4	79	1	0	0	0	0	0	0	0	1	12859	639	23	1		1	PTPRO	12	15654735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284350	15654735	118197160	13085	23402											
PTPRO	5800	broad.mit.edu	37	chr12	15654981	15654981	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttttgatgggttccatatCcatattgaacgagaaggtaa	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	363	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1087-1089)atC>atT		protein tyrosine phosphatase, receptor type, O							69	69	69					12																	15654981		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654981C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1089C>T	12.37:g.15654981C>T						PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			5	1419	+		Hepatocellular(102;0.244)	363			Fibronectin type-III 4.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1089C>T	CCDS8675.1																																																																																				0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			68	291	0	0	0	1	0	68	291					T	15654981	C	T	15654981	2	4	79	1	0	0	0	0	0	0	0	1	12859	845	30	2		2	PTPRO	12	15654981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246	15654981	118196914	13086	23403											
PTPRO	5800	broad.mit.edu	37	chr12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttctctaaaggctgacGagatgcaggatgtgatgcat	11	6	1	3	rs141467284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1088	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20263	0.0		0.001	False		,,,				2504	0.0					ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3262-3264)Gag>Aag		protein tyrosine phosphatase, receptor type, O							152	137	142					12																	15739837		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15739837G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3262G>A	12.37:g.15739837G>A	ENSP00000281171:p.Glu1088Lys					PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K	p.E1088K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			24	3592	+		Hepatocellular(102;0.244)	1088			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3262G>A	CCDS8675.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.08	3.298148	0.60086	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.52532	D	0.000075	T	0.75332	0.3835	L	0.35341	1.055	0.58432	D	0.99999	P;D;D	0.60160	0.686;0.987;0.98	B;B;B	0.38056	0.085;0.172;0.264	T	0.80999	-0.1131	10	0.72032	D	0.01	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	249;1060;1088	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1088;1060;277;249;277;249;67	ENSP00000281171:E1088K;ENSP00000343434:E1060K;ENSP00000404188:E277K;ENSP00000437571:E249K;ENSP00000393449:E277K;ENSP00000439234:E249K;ENSP00000446201:E67K	ENSP00000281171:E1088K	E	+	1	0	PTPRO	15631104	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	6.253000	0.72453	2.588000	0.87417	0.650000	0.86243	GAG		0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			73	387	0	0	0	1	0	73	387					A	15739837	G	A	15739837	3	1	79	1	0	0	0	0	1	0	0	0	12859	1059	37	1	3356	1	PTPRO	12	15739837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84856	15739837	118112058	13087	23404											
PTPRO	5800	broad.mit.edu	37	chr12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagcacattcgggaTcatgagtttgttgacatctt	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1158	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3472-3474)gaT>gaG		protein tyrosine phosphatase, receptor type, O							196	176	183					12																	15742452		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742452T>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3474T>G	12.37:g.15742452T>G	ENSP00000281171:p.Asp1158Glu					PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E	p.D1158E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3804	+		Hepatocellular(102;0.244)	1158			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3474T>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	8.168	0.791125	0.16258	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.1	-4.97	0.03029	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000096	T	0.59595	0.2205	N	0.13272	0.32	0.34027	D	0.653411	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56269	-0.8007	10	0.02654	T	1	.	12.0958	0.53755	0.0:0.5968:0.1148:0.2884	.	319;1130;1158	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	1158;1130;347;319;347;319	ENSP00000281171:D1158E;ENSP00000343434:D1130E;ENSP00000404188:D347E;ENSP00000437571:D319E;ENSP00000393449:D347E;ENSP00000439234:D319E	ENSP00000281171:D1158E	D	+	3	2	PTPRO	15633719	0.544000	0.26441	0.730000	0.30809	0.741000	0.42261	-0.283000	0.08433	-1.202000	0.02655	-0.441000	0.05720	GAT		0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			132	467	0	0	0	1	0	132	467					G	15742452	T	G	15742452	3	3	79	1	0	0	0	0	1	0	0	0	12859	1432	50	4	3572	4	PTPRO	12	15742452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2615	15742452	118109443	13088	23405											
EPS8	2059	broad.mit.edu	37	chr12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttttatttcctgtttgCgctgatgttctgctacattt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000281172.5	-	14	1839	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	468					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCCTGTTTGCGCTGATGTTC	0.393																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1402-1404)cGc>cAc		epidermal growth factor receptor pathway substrate 8							113	106	108					12																	15803788		2203	4300	6503	SO:0001583	missense	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15803788C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1403G>A	12.37:g.15803788C>T	ENSP00000281172:p.Arg468His					EPS8_ENST00000543523.1_Missense_Mutation_p.R468H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H	p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	14	1839	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	468					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1403G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231913	0.39399	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07327	3.34;3.34;3.34;3.2;3.2	4.86	3.97	0.46021	.	0.290153	0.34652	N	0.003785	T	0.08891	0.0220	L	0.41710	1.295	0.40309	D	0.978692	B	0.11235	0.004	B	0.06405	0.002	T	0.08617	-1.0713	10	0.54805	T	0.06	-5.4412	13.0165	0.58759	0.0:0.9215:0.0:0.0785	.	468	Q12929	EPS8_HUMAN	H	468;468;468;208;208;468	ENSP00000441867:R468H;ENSP00000281172:R468H;ENSP00000442388:R468H;ENSP00000441888:R208H;ENSP00000437806:R208H	ENSP00000281172:R468H	R	-	2	0	EPS8	15695055	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.162000	0.50755	1.022000	0.39626	0.650000	0.86243	CGC		0.393	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			82	486	0	0	0	1	0	82	486					T	15803788	C	T	15803788	3	4	79	1	0	0	0	0	1	0	0	0	5212	768	27	1	1097	1	EPS8	12	15803788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61336	15803788	118048107	13089	23406											
EPS8	2059	broad.mit.edu	37	chr12	15807132	15807132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgccgttcatcaccAttgacagtataatttaagaa	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000281172.5	-	13	1633	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000543612.1_Silent_p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTTCATCACCATTGACAGTAT	0.418																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1195-1197)aaT>aaC		epidermal growth factor receptor pathway substrate 8							130	109	116					12																	15807132		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807132A>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1197T>C	12.37:g.15807132A>G						EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000542903.1_Silent_p.N139N	p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1633	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	399			PH; second part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.1197T>C	CCDS31753.1																																																																																				0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			80	314	0	0	0	1	0	80	314					G	15807132	A	G	15807132	2	3	79	1	0	0	0	0	0	0	0	1	5212	214	8	4		4	EPS8	12	15807132	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3344	15807132	118044763	13090	23407											
STRAP	11171	broad.mit.edu	37	chr12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgcagtgaggataaaCagattctttctgctgatgac	12	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*|STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	157					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGAGGATAAACAGATTCTTTC	0.348																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(469-471)Cag>Tag		serine/threonine kinase receptor associated protein							111	123	119					12																	16047046		2203	4300	6503	SO:0001587	stop_gained	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16047046C>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.469C>T	12.37:g.16047046C>T	ENSP00000392270:p.Gln157*					STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	p.Q157*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			5	782	+		Hepatocellular(102;0.121)	157					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Nonsense_Mutation	SNP	ENST00000419869.2	37	c.469C>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.479135	0.98309	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	.	.	.	4.18	4.18	0.49190	.	0.054356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.3112	17.0353	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	63;170;157	.	ENSP00000025399:Q170X	Q	+	1	0	STRAP	15938313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.319000	0.78375	0.650000	0.86243	CAG		0.348	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		17	469	0	0	0	1	0	17	469					T	16047046	C	T	16047046	4	4	79	1	0	0	0	0	0	1	0	0	15378	479	17	2	487	2	STRAP	12	16047046	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239914	16047046	117804849	13091	23408											
RERGL	79785	broad.mit.edu	37	chr12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccagcttttgccctTcttcccagccaacctctcgc	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	137	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(409-411)gAa>gCa		RERG/RAS-like							104	95	98					12																	18234333		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234333T>G	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.410A>C	12.37:g.18234333T>G	ENSP00000229002:p.Glu137Ala					RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	p.E137A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			6	616	-			137			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.410A>C	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576717	0.86645	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79033	-1.23;-1.23	4.74	4.74	0.60224	.	0.052009	0.85682	D	0.000000	D	0.88808	0.6537	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.85130	0.868;0.997	D	0.90633	0.4568	10	0.72032	D	0.01	.	13.5615	0.61793	0.0:0.0:0.0:1.0	.	136;137	F5H686;Q9H628	.;RERGL_HUMAN	A	137;136	ENSP00000229002:E137A;ENSP00000437814:E136A	ENSP00000229002:E137A	E	-	2	0	RERGL	18125600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.905000	0.75714	2.073000	0.62155	0.456000	0.33151	GAA		0.443	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		72	417	0	0	0	1	0	72	417					G	18234333	T	G	18234333	3	3	79	1	0	0	0	0	1	0	0	0	13283	1783	62	4	211	4	RERGL	12	18234333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2187287	18234333	115617562	13092	23409											
PIK3C2G	5288	broad.mit.edu	37	chr12	18544112	18544112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgattctgaagagaatagAagtaatcttgaagagccact	9	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000266497.5	+	13	1967	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000433979.1_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	643	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)				AAGAGAATAGAAGTAATCTTG	0.383																																						ENST00000433979.1																			0				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						c.(1927-1929)agA>agG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							67	63	64					12																	18544112		1819	4083	5902	SO:0001819	synonymous_variant	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.chr12:18544112A>G	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.1929A>G	12.37:g.18544112A>G						PIK3C2G_ENST00000266497.5_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R	p.R643R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			14	2045	+		Hepatocellular(102;0.194)	643					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.1929A>G	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		21	143	0	0	0	1	0	21	143					G	18544112	A	G	18544112	2	3	79	1	0	0	0	0	0	0	0	1	11953	243	9	4		4	PIK3C2G	12	18544112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	309779	18544112	115307783	13093	23410											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552635	18552635	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatttatggttttatcgcttCtactgcaataatgaaaactg	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000266497.5	+	14	2084	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000433979.1_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	682	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)				TTTATCGCTTCTACTGCAATA	0.383																																						ENST00000433979.1																			0				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						c.(2044-2046)ttC>ttT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							96	94	95					12																	18552635		1822	4082	5904	SO:0001819	synonymous_variant	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.chr12:18552635C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2046C>T	12.37:g.18552635C>T						PIK3C2G_ENST00000266497.5_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F	p.F682F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			15	2162	+		Hepatocellular(102;0.194)	682					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2046C>T	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		69	298	0	0	0	1	0	69	298					T	18552635	C	T	18552635	2	4	79	1	0	0	0	0	0	0	0	1	11953	912	32	2		2	PIK3C2G	12	18552635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8523	18552635	115299260	13094	23411											
CAPZA3	93661	broad.mit.edu	37	chr12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcaggaaggacaaggaaaGagtaattcgcagactgttat	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACAAGGAAAGAGTAATTCGC	0.428																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(37-39)aGa>aTa		capping protein (actin filament) muscle Z-line, alpha 3																																				SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891240G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.38G>T	12.37:g.18891240G>T	ENSP00000326238:p.Arg13Ile						p.R13I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	196	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	13					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.38G>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093371	0.20471	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-7.43	0.01383	.	0.512970	0.18368	N	0.143357	T	0.54983	0.1892	M	0.68952	2.095	0.37809	D	0.92797	B	0.32425	0.371	B	0.32677	0.15	T	0.51364	-0.8715	9	0.87932	D	0	-1.1445	15.5084	0.75760	0.7512:0.0:0.2488:0.0	.	13	Q96KX2	CAZA3_HUMAN	I	13	.	ENSP00000326238:R13I	R	+	2	0	CAPZA3	18782507	0.000000	0.05858	0.587000	0.28692	0.476000	0.33039	-2.225000	0.01212	-1.571000	0.01663	-1.008000	0.02478	AGA		0.428	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		18	379	1	0	1.56452e-12	1	1.68123e-12	18	379					T	18891240	G	T	18891240	3	4	79	1	0	0	0	0	1	0	0	0	2649	942	33	3	40	3	CAPZA3	12	18891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338605	18891240	114960655	13095	23412											
CAPZA3	93661	broad.mit.edu	37	chr12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatatccaaggacctgaaaGaaagcttggaaatagttaac	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(631-633)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							66	67	67					12																	18891833		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891833G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.631G>A	12.37:g.18891833G>A	ENSP00000326238:p.Glu211Lys						p.E211K	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	789	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	211					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.631G>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941575	0.73557	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.298320	0.31123	N	0.008212	T	0.67599	0.2910	M	0.62723	1.935	0.44611	D	0.997587	P	0.51449	0.945	P	0.55055	0.767	T	0.70454	-0.4867	9	0.59425	D	0.04	-22.2472	14.7091	0.69215	0.0:0.0:1.0:0.0	.	211	Q96KX2	CAZA3_HUMAN	K	211	.	ENSP00000326238:E211K	E	+	1	0	CAPZA3	18783100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	2.498000	0.84270	0.462000	0.41574	GAA		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		52	182	0	0	0	1	0	52	182					A	18891833	G	A	18891833	3	1	79	1	0	0	0	0	1	0	0	0	2649	943	33	2	633	2	CAPZA3	12	18891833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593	18891833	114960062	13096	23413											
CAPZA3	93661	broad.mit.edu	37	chr12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattacaggagttatccaatGaagccctgagaaaaattcta	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTTATCCAATGAAGCCCTGAG	0.433																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(748-750)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							49	52	51					12																	18891950		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891950G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.748G>A	12.37:g.18891950G>A	ENSP00000326238:p.Glu250Lys						p.E250K	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	906	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	250					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.748G>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	CAPZA3	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA		0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	300	0	0	0	1	0	8	300					A	18891950	G	A	18891950	3	1	79	1	0	0	0	0	1	0	0	0	2649	1291	45	2	750	2	CAPZA3	12	18891950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	18891950	114959945	13097	23414											
AEBP2	121536	broad.mit.edu	37	chr12	19615452	19615452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttttgtagcataagcaGtactataatggatgtagaca	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	ENST00000398864.3	+	2	706	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_ENST00000266508.9_Missense_Mutation_p.S227N|AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N|AEBP2_ENST00000541908.1_5'UTR	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	227	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGCATAAGCAGTACTATAATG	0.343																																						ENST00000266508.9																			0				ovary(1)	1						c.(679-681)aGt>aAt		AE binding protein 2							51	45	47					12																	19615452		1869	4104	5973	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19615452G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.680G>A	12.37:g.19615452G>A	ENSP00000381840:p.Ser227Asn					AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR	p.S227N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			2	681	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		227			Interaction with RBBP4.|Ser-rich.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.680G>A	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791578	0.90367	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.92495	-3.05;-3.05;-0.45	5.55	5.55	0.83447	.	.	.	.	.	D	0.93455	0.7912	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.93912	0.7198	9	0.66056	D	0.02	0.2426	19.6941	0.96016	0.0:0.0:1.0:0.0	.	227	Q6ZN18	AEBP2_HUMAN	N	227;161;227;11	ENSP00000381840:S227N;ENSP00000266508:S227N;ENSP00000354267:S11N	ENSP00000266508:S227N	S	+	2	0	AEBP2	19506719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	AGT		0.343	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		13	61	0	0	0	1	0	13	61					A	19615452	G	A	19615452	3	1	79	1	0	0	0	0	1	0	0	0	350	1029	36	2	686	2	AEBP2	12	19615452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723502	19615452	114236443	13098	23415											
AEBP2	121536	broad.mit.edu	37	chr12	19671045	19671045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgccgcagaagaggttgaaGaggtaaaaaataaataaata	10	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000398864.3	+	8	1532	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000266508.9_Silent_p.K502K|AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000541908.1_Silent_p.K273K	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	502	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAGGTTGAAGAGGTAAAAAA	0.348																																						ENST00000266508.9																			0				ovary(1)	1						c.(1504-1506)aaG>aaA		AE binding protein 2							32	28	29					12																	19671045		1802	4078	5880	SO:0001819	synonymous_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19671045G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1506G>A	12.37:g.19671045G>A						AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000398864.3_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K	p.K502K	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			8	1507	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		502			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	c.1506G>A	CCDS44841.1																																																																																				0.348	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		7	50	0	0	0	1	0	7	50					A	19671045	G	A	19671045	2	1	79	1	0	0	0	0	0	0	0	1	350	933	33	2		2	AEBP2	12	19671045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55593	19671045	114180850	13099	23416											
PDE3A	5139	broad.mit.edu	37	chr12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgcgcgccggggtgCgcctgcctctggctgtcgcg	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	156					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)			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)	CGCCGGGGTGCGCCTGCCTCT	0.697																																						ENST00000359062.3																			0				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						c.(466-468)Cgc>Tgc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						14	17	16					12																	20522684		2077	4119	6196	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.chr12:20522684C>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.466C>T	12.37:g.20522684C>T	ENSP00000351957:p.Arg156Cys					RP11-284H19.1_ENST00000535755.1_RNA	p.R156C	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	506	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	156					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.466C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601857	0.66445	.	.	ENSG00000172572	ENST00000359062	T	0.64085	-0.08	5.21	4.29	0.51040	.	0.996761	0.08141	N	0.991574	T	0.48259	0.1490	N	0.19112	0.55	0.48975	D	0.999733	D	0.55385	0.971	B	0.36666	0.23	T	0.45673	-0.9245	10	0.59425	D	0.04	.	14.7641	0.69626	0.1554:0.8446:0.0:0.0	.	156	Q14432	PDE3A_HUMAN	C	156	ENSP00000351957:R156C	ENSP00000351957:R156C	R	+	1	0	PDE3A	20413951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	1.106000	0.41623	0.555000	0.69702	CGC		0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			34	154	0	0	0	1	0	34	154					T	20522684	C	T	20522684	3	4	79	1	0	0	0	0	1	0	0	0	11679	768	27	1	468	1	PDE3A	12	20522684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851639	20522684	113329211	13100	23417											
PDE3A	5139	broad.mit.edu	37	chr12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctccctgccctgtataCcgagggaacaggtaagcact	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	317					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)			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)	GCCCTGTATACCGAGGGAACA	0.607																																						ENST00000359062.3																			0				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						c.(949-951)Ccg>Tcg		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26	25	26					12																	20523167		2201	4298	6499	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.chr12:20523167C>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.949C>T	12.37:g.20523167C>T	ENSP00000351957:p.Pro317Ser					RP11-284H19.1_ENST00000535755.1_RNA	p.P317S	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	989	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	317					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.949C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000172572	ENST00000359062	T	0.58358	0.34	4.58	4.58	0.56647	.	1.848920	0.02208	N	0.062869	T	0.37100	0.0991	N	0.16368	0.405	0.36182	D	0.849498	B	0.24132	0.098	B	0.17979	0.02	T	0.34675	-0.9819	10	0.02654	T	1	.	11.1176	0.48270	0.0:0.914:0.0:0.086	.	317	Q14432	PDE3A_HUMAN	S	317	ENSP00000351957:P317S	ENSP00000351957:P317S	P	+	1	0	PDE3A	20414434	0.997000	0.39634	0.983000	0.44433	0.938000	0.57974	5.258000	0.65479	2.529000	0.85273	0.650000	0.86243	CCG		0.607	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			41	157	0	0	0	1	0	41	157					T	20523167	C	T	20523167	3	4	79	1	0	0	0	0	1	0	0	0	11679	507	18	2	951	2	PDE3A	12	20523167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483	20523167	113328728	13101	23418											
PDE3A	5139	broad.mit.edu	37	chr12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaaactgcaggaagCaccttcatccaggtggcata	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	471					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)			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)	CTGCAGGAAGCACCTTCATCC	0.512																																						ENST00000359062.3																			0				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						c.(1411-1413)gCa>gTa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						105	90	95					12																	20769306		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.chr12:20769306C>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.1412C>T	12.37:g.20769306C>T	ENSP00000351957:p.Ala471Val					PDE3A_ENST00000544307.1_3'UTR	p.A471V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			4	1452	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	471					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1412C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495797	0.12762	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.26	4.3	0.51218	.	14.108600	0.00166	N	0.000000	T	0.40595	0.1123	L	0.38838	1.175	0.09310	N	1	P	0.46064	0.872	B	0.34418	0.182	T	0.48670	-0.9015	10	0.17832	T	0.49	.	15.6368	0.76961	0.0:0.8625:0.1375:0.0	.	471	Q14432	PDE3A_HUMAN	V	471	ENSP00000351957:A471V	ENSP00000351957:A471V	A	+	2	0	PDE3A	20660573	0.082000	0.21442	0.990000	0.47175	0.048000	0.14542	3.375000	0.52410	2.616000	0.88540	0.655000	0.94253	GCA		0.512	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			74	334	0	0	0	1	0	74	334					T	20769306	C	T	20769306	3	4	79	1	0	0	0	0	1	0	0	0	11679	710	25	2	1426	2	PDE3A	12	20769306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246139	20769306	113082589	13102	23419											
PDE3A	5139	broad.mit.edu	37	chr12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaccaattcttgctcccGaacctcttgtcatggataac	5	13	3	0	rs553709588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	675					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)			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)	TCTTGCTCCCGAACCTCTTGT	0.338																																						ENST00000359062.3																			0				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						c.(2023-2025)Gaa>Aaa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						88	83	84					12																	20790055		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.chr12:20790055G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2023G>A	12.37:g.20790055G>A	ENSP00000351957:p.Glu675Lys					PDE3A_ENST00000544307.1_3'UTR	p.E675K	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			9	2063	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	675					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2023G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063574	0.93898	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.42964	U	0.000636	T	0.73961	0.3654	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.72805	-0.4182	10	0.39692	T	0.17	.	18.0307	0.89283	0.0:0.0:1.0:0.0	.	675	Q14432	PDE3A_HUMAN	K	675	ENSP00000351957:E675K	ENSP00000351957:E675K	E	+	1	0	PDE3A	20681322	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.963000	0.76055	2.487000	0.83934	0.591000	0.81541	GAA		0.338	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	199	0	0	0	1	0	35	199					A	20790055	G	A	20790055	3	1	79	1	0	0	0	0	1	0	0	0	11679	1059	37	1	2057	1	PDE3A	12	20790055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20749	20790055	113061840	13103	23420											
PDE3A	5139	broad.mit.edu	37	chr12	20832995	20832995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaaggagaaaaatctaCtgccaaataactcagcacct	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1072	Catalytic. {ECO:0000250}.				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)			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)	GAAAAATCTACTGCCAAATAA	0.378																																						ENST00000359062.3																			0				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						c.(3214-3216)taC>taT		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						58	56	57					12																	20832995		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20832995C>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.3216C>T	12.37:g.20832995C>T						PDE3A_ENST00000544307.1_3'UTR	p.Y1072Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3256	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1072			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3216C>T	CCDS31754.1																																																																																				0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	242	0	0	0	1	0	35	242					T	20832995	C	T	20832995	2	4	79	1	0	0	0	0	0	0	0	1	11679	576	20	2		2	PDE3A	12	20832995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42940	20832995	113018900	13104	23421											
SLCO1C1	53919	broad.mit.edu	37	chr12	20890164	20890164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacatatgtatcagcttgTcttgctggttgtcaaacctc	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000266509.2	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	502	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TATCAGCTTGTCTTGCTGGTT	0.388																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1504-1506)tgT>tgC		solute carrier organic anion transporter family, member 1C1							106	97	100					12																	20890164		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890164T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1506T>C	12.37:g.20890164T>C						SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000266509.2_Silent_p.C502C	p.C502C			Q9NYB5	SO1C1_HUMAN			11	1874	+	Esophageal squamous(101;0.149)		502			Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1506T>C	CCDS8683.1																																																																																				0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		74	316	0	0	0	1	0	74	316					C	20890164	T	C	20890164	2	2	79	1	0	0	0	0	0	0	0	1	14775	1673	58	4		4	SLCO1C1	12	20890164	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57169	20890164	112961731	13105	23422											
SLCO1B3	28234	broad.mit.edu	37	chr12	21014072	21014072	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagatagtagaaaaaGgtaagaattaatagtgacag	10	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	ENST00000381545.3	+	6	700	c.481G>A	c.(481-483)Gat>Aat	p.D161N	SLCO1B3_ENST00000261196.2_Splice_Site_p.D161N|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	161					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGTAGAAAAAGGTAAGAATTA	0.264																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.e6+1		solute carrier organic anion transporter family, member 1B3							39	40	39					12																	21014072		2197	4266	6463	SO:0001630	splice_region_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21014072G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.481+1G>A	12.37:g.21014072G>A						SLCO1B3_ENST00000261196.2_Splice_Site_p.D161_splice|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161_splice|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161_splice	p.D161_splice	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			6	700	+	Esophageal squamous(101;0.149)		161					E7EMT8|Q5JAR4	Splice_Site	SNP	ENST00000381545.3	37	c.481_splice	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456291	0.63401	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.53	3.53	0.40419	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.536026	0.18710	N	0.133308	T	0.18759	0.0450	N	0.05177	-0.1	0.80722	D	1	P;P	0.37015	0.536;0.578	B;B	0.41412	0.288;0.356	T	0.03761	-1.1006	10	0.23302	T	0.38	.	6.6772	0.23100	0.13:0.0:0.87:0.0	.	161;161	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	N	161	ENSP00000442000:D161N;ENSP00000261196:D161N;ENSP00000370956:D161N;ENSP00000451758:D161N;ENSP00000441269:D161N	ENSP00000441269:D161N	D	+	1	0	SLCO1B3;RP11-545J16.1	20905339	1.000000	0.71417	0.988000	0.46212	0.630000	0.37929	4.956000	0.63645	1.810000	0.52873	0.467000	0.42956	GAT		0.264	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	Missense_Mutation	30	117	0	0	0	1	0	30	117					A	21014072	G	A	21014072	5	1	79	1	0	0	0	0	0	0	1	0	14774	1014	35	2	495	2	SLCO1B3	12	21014072	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123908	21014072	112837823	13106	23423											
LST-3TM12	338821	broad.mit.edu	37	chr12	21200112	21200112	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaaaatggtggagcaaCagtatggttggtctgcatct	11	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21200112C>T	ENST00000421593.2	+	7	955	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.Q366*|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Nonsense_Mutation_p.Q366*|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGTGGAGCAACAGTATGGTTG	0.333																																						ENST00000381541.3																			0											c.(1096-1098)Cag>Tag									116	119	118					12																	21200112		2139	4276	6415	SO:0001587	stop_gained	0							g.chr12:21200112C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.955C>T	12.37:g.21200112C>T	ENSP00000394168:p.Gln319*					LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Nonsense_Mutation_p.Q319*|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.Q366*|SLCO1B3_ENST00000553473.1_Intron	p.Q366*							8	1161	+								Q71QF0	Nonsense_Mutation	SNP	ENST00000421593.2	37	c.1096C>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	36	5.733400	0.96865	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.21	2.2	0.27929	.	0.587759	0.16949	N	0.192977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7835	0.40662	0.0:0.7875:0.2125:0.0	.	.	.	.	X	366;366;319	.	ENSP00000370952:Q366X	Q	+	1	0	SLCO1B7;RP11-545J16.1	21091379	0.999000	0.42202	0.083000	0.20561	0.009000	0.06853	2.691000	0.47010	1.769000	0.52152	0.460000	0.39030	CAG		0.333	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		15	85	0	0	0	1	0	15	85					T	21200112	C	T	21200112	4	4	79	1	0	0	0	0	0	1	0	0	9104	479	17	2	981	2	LST-3TM12	12	21200112	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186040	21200112	112651783	13107	23424											
SLCO1B1	10599	broad.mit.edu	37	chr12	21294592	21294592	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatactgcaatggattgaaGgtagaataagttttatgttt	10	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	28					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATGGATTGAAGGTAGAATAAG	0.274																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.e2+1		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						62	63	63					12																	21294592		2203	4294	6497	SO:0001630	splice_region_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21294592G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.84+1G>T	12.37:g.21294592G>T							p.K28_splice	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			2	180	+			28					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37	c.84_splice	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825208	0.32237	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.477998	0.22930	N	0.053920	T	0.75191	0.3816	M	0.85099	2.735	0.39922	D	0.974171	D	0.64830	0.994	D	0.70487	0.969	T	0.79855	-0.1627	10	0.87932	D	0	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	28	Q9Y6L6	SO1B1_HUMAN	N	28	ENSP00000256958:K28N	ENSP00000256958:K28N	K	+	3	2	SLCO1B1	21185859	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	AAG		0.274	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Missense_Mutation	16	173	1	0	3.45872e-05	1	3.53336e-05	16	173					T	21294592	G	T	21294592	5	4	79	1	0	0	0	0	0	0	1	0	14773	1014	35	3	86	3	SLCO1B1	12	21294592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94480	21294592	112557303	13108	23425											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttttactgctgtgatgTcattgtccttttacctatta	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	418					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGCTGTGATGTCATTGTCCTT	0.323																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1252-1254)Tca>Cca		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						90	84	86					12																	21355541		2203	4296	6499	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355541T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1252T>C	12.37:g.21355541T>C	ENSP00000256958:p.Ser418Pro						p.S418P	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			10	1348	+			418					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1252T>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309843	0.40895	.	.	ENSG00000134538	ENST00000256958	T	0.60040	0.22	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.033120	0.07725	N	0.944329	T	0.69611	0.3130	M	0.75447	2.3	0.09310	N	1	P	0.38335	0.627	P	0.62649	0.905	T	0.70568	-0.4836	10	0.59425	D	0.04	.	5.6126	0.17414	0.4594:0.0:0.3794:0.1612	.	418	Q9Y6L6	SO1B1_HUMAN	P	418	ENSP00000256958:S418P	ENSP00000256958:S418P	S	+	1	0	SLCO1B1	21246808	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.081000	0.03403	-1.656000	0.01495	0.254000	0.18369	TCA		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		52	181	0	0	0	1	0	52	181					C	21355541	T	C	21355541	3	2	79	1	0	0	0	0	1	0	0	0	14773	1667	58	4	1286	4	SLCO1B1	12	21355541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60949	21355541	112496354	13109	23426											
SLCO1A2	6579	broad.mit.edu	37	chr12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggacaagttgcctgaaaCtgaaactgtagattcatatt	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000307378.6	-	6	1081	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	121					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGCCTGAAACTGAAACTGTA	0.363																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(361-363)Gtt>Att		solute carrier organic anion transporter family, member 1A2							111	103	106					12																	21459897		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21459897C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.361G>A	12.37:g.21459897C>T	ENSP00000305974:p.Val121Ile					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I|SLCO1A2_ENST00000537524.1_5'UTR	p.V121I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			6	1081	-			121					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.361G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086598	0.20390	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.2	-0.183	0.13284	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.090680	0.00357	N	0.000022	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.12837	0.006;0.004;0.008	T	0.08046	-1.0741	10	0.20046	T	0.44	.	4.7947	0.13267	0.0:0.4951:0.1738:0.3311	.	101;119;121	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	121;121;119;121;121	ENSP00000305974:V121I;ENSP00000393973:V121I;ENSP00000375088:V119I;ENSP00000416190:V121I;ENSP00000409314:V121I	ENSP00000305974:V121I	V	-	1	0	SLCO1A2	21351164	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	0.388000	0.20735	0.075000	0.16796	0.557000	0.71058	GTT		0.363	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		40	237	0	0	0	1	0	40	237					T	21459897	C	T	21459897	3	4	79	1	0	0	0	0	1	0	0	0	14772	565	20	2	1695	2	SLCO1A2	12	21459897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104356	21459897	112391998	13110	23427											
IAPP	3375	broad.mit.edu	37	chr12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgaagctgcaagtatttCtcattgtgctctctgttgca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000240652.3	+	2	164	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000542023.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	10					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						GCAAGTATTTCTCATTGTGCT	0.358																																						ENST00000542023.1																			0				lung(3)	3						c.(28-30)Ctc>Atc		islet amyloid polypeptide	Perindopril(DB00790)						148	138	141					12																	21526313		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21526313C>A		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"Endogenous ligands"	5329	protein-coding gene	gene with protein product	"amylin"	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.28C>A	12.37:g.21526313C>A	ENSP00000240652:p.Leu10Ile					SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|IAPP_ENST00000240652.3_Missense_Mutation_p.L10I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron	p.L10I			P10997	IAPP_HUMAN			2	129	+			10					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.28C>A	CCDS8688.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567065	0.28003	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.81330	-1.47;-1.47;-1.48	5.77	1.83	0.25207	.	0.321986	0.27802	N	0.017788	T	0.65228	0.2671	.	.	.	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.57533	-0.7795	9	0.48119	T	0.1	-8.54	3.3808	0.07254	0.1873:0.4984:0.0:0.3143	.	10	P10997	IAPP_HUMAN	I	10	ENSP00000437357:L10I;ENSP00000240652:L10I;ENSP00000445980:L10I	ENSP00000240652:L10I	L	+	1	0	IAPP	21417580	0.443000	0.25641	0.002000	0.10522	0.009000	0.06853	0.956000	0.29202	0.747000	0.32809	0.655000	0.94253	CTC		0.358	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		67	285	1	0	3.20846e-33	1	3.7991e-33	67	285					A	21526313	C	A	21526313	3	1	79	1	0	0	0	0	1	0	0	0	7502	913	32	3	30	3	IAPP	12	21526313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66416	21526313	112325582	13111	23428											
PYROXD1	79912	broad.mit.edu	37	chr12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtaaagcaactgaagaGtgaagaacacgtaagataat	11	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000240651.9	+	3	329	c.275G>T	c.(274-276)aGt>aTt	p.S92I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.S21I|PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	92							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(61-63)aGt>aTt		pyridine nucleotide-disulphide oxidoreductase domain 1							59	58	58					12																	21598390		2203	4300	6503	SO:0001583	missense	79912						oxidoreductase activity	g.chr12:21598390G>T	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.275G>T	12.37:g.21598390G>T	ENSP00000240651:p.Ser92Ile					PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I|PYROXD1_ENST00000240651.9_Missense_Mutation_p.S92I	p.S21I			Q8WU10	PYRD1_HUMAN			3	815	+			92					A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	c.62G>T	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208227	0.39003	.	.	ENSG00000121350	ENST00000545178;ENST00000240651;ENST00000538582	T;T;T	0.47869	0.85;0.85;0.83	5.3	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.168957	0.64402	D	0.000004	T	0.47619	0.1455	M	0.64567	1.98	0.52501	D	0.999955	B	0.25272	0.122	B	0.29176	0.099	T	0.43180	-0.9407	10	0.19147	T	0.46	.	17.5454	0.87859	0.0:0.1342:0.8658:0.0	.	92	Q8WU10	PYRD1_HUMAN	I	92;92;21	ENSP00000443912:S92I;ENSP00000240651:S92I;ENSP00000438505:S21I	ENSP00000240651:S92I	S	+	2	0	PYROXD1	21489657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.707000	0.61852	2.463000	0.83235	0.650000	0.86243	AGT		0.363	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		20	143	1	0	9.57634e-11	1	1.01752e-10	20	143					T	21598390	G	T	21598390	3	4	79	1	0	0	0	0	1	0	0	0	12916	1029	36	3	285	3	PYROXD1	12	21598390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72077	21598390	112253505	13112	23429											
RECQL	5965	broad.mit.edu	37	chr12	21624421	21624421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcttcacgaggaagTgtgggagccacaacacctgc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	536					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1606-1608)acA>acG	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							123	111	115					12																	21624421		2203	4300	6503	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624421T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1608A>G	12.37:g.21624421T>C						RECQL_ENST00000421138.2_Silent_p.T536T	p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			13	2076	-			536					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1608A>G	CCDS31756.1																																																																																				0.398	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		88	366	0	0	0	1	0	88	366					C	21624421	T	C	21624421	2	2	79	1	0	0	0	0	0	0	0	1	13251	1683	59	4		4	RECQL	12	21624421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26031	21624421	112227474	13113	23430											
RECQL	5965	broad.mit.edu	37	chr12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccttctttattccaagCggcaggtgaagaatcatatt	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	67					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(199-201)Gct>Act	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)																																				SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644468C>T	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.199G>A	12.37:g.21644468C>T	ENSP00000416739:p.Ala67Thr					RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	667	-			67					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.199G>A	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475014	0.12521	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;T;T	0.76448	-1.02;-1.02;0.75;0.75;-0.05;0.94	4.45	-1.07	0.09968	.	0.791130	0.11811	N	0.527132	T	0.65739	0.2720	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	10	0.14252	T	0.57	-12.6805	4.7242	0.12933	0.2271:0.4814:0.0:0.2915	.	67	P46063	RECQ1_HUMAN	T	67	ENSP00000416739:A67T;ENSP00000395449:A67T;ENSP00000379400:A67T;ENSP00000318727:A67T;ENSP00000445555:A67T;ENSP00000439069:A67T	ENSP00000318727:A67T	A	-	1	0	RECQL	21535735	0.001000	0.12720	0.341000	0.25589	0.987000	0.75469	0.075000	0.14686	-0.086000	0.12550	0.655000	0.94253	GCT		0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		43	168	0	0	0	1	0	43	168					T	21644468	C	T	21644468	3	4	79	1	0	0	0	0	1	0	0	0	13251	768	27	1	1802	1	RECQL	12	21644468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20047	21644468	112207427	13114	23431											
GOLT1B	51026	broad.mit.edu	37	chr12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttggaatgattctcTtttttgacaaagcactactg	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000229314.5	+	2	194	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	29	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274																																						ENST00000229314.5																			0				large_intestine(2)|lung(3)	5						c.(85-87)Ttt>Gtt		golgi transport 1B							139	139	139					12																	21659878		2202	4296	6498	SO:0001583	missense	51026				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	g.chr12:21659878T>G	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"golgi transport 1 homolog B (S. cerevisiae)"			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.85T>G	12.37:g.21659878T>G	ENSP00000229314:p.Phe29Val					GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V	p.F29V	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN			2	194	+			29			Phe-rich.		B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	37	c.85T>G	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928820	0.73327	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.84433	2.695	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.72211	-0.4359	10	0.72032	D	0.01	-6.893	15.3788	0.74637	0.0:0.0:0.0:1.0	.	29	Q9Y3E0	GOT1B_HUMAN	V	29	ENSP00000437351:F29V;ENSP00000229314:F29V	ENSP00000229314:F29V	F	+	1	0	GOLT1B	21551145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.213000	0.71641	0.477000	0.44152	TTT		0.274	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072		81	309	0	0	0	1	0	81	309					G	21659878	T	G	21659878	3	3	79	1	0	0	0	0	1	0	0	0	6600	1609	56	4	91	4	GOLT1B	12	21659878	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15410	21659878	112192017	13115	23432											
GYS2	2998	broad.mit.edu	37	chr12	21690005	21690005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatcgtatctctcAtcctccacttcatcttccac	1	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	665					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTATCTCTCATCCTCCACTT	0.483																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1993-1995)gaT>gaC		glycogen synthase 2 (liver)							197	137	158					12																	21690005		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21690005A>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1995T>C	12.37:g.21690005A>G							p.D665D	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			16	2249	-			665					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1995T>C	CCDS8690.1																																																																																				0.483	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		75	286	0	0	0	1	0	75	286					G	21690005	A	G	21690005	2	3	79	1	0	0	0	0	0	0	0	1	6943	214	8	4		4	GYS2	12	21690005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30127	21690005	112161890	13116	23433											
LDHB	3945	broad.mit.edu	37	chr12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacatccacttccaatcaCgcggtgtttgggtaatccac	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	159					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CTTCCAATCACGCGGTGTTTG	0.398																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(475-477)Gtg>Atg		lactate dehydrogenase B	NADH(DB00157)						108	98	101					12																	21795006		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21795006C>T		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.475G>A	12.37:g.21795006C>T	ENSP00000379386:p.Val159Met					LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			5	807	-			159						Missense_Mutation	SNP	ENST00000396076.1	37	c.475G>A	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516070	0.85495	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.054730	0.64402	D	0.000001	D	0.95971	0.8688	H	0.98048	4.135	0.80722	D	1	P	0.49358	0.923	P	0.47402	0.546	D	0.96827	0.9608	10	0.87932	D	0	.	13.0855	0.59138	0.0:0.9268:0.0:0.0732	.	159	P07195	LDHB_HUMAN	M	159	ENSP00000379386:V159M;ENSP00000229319:V159M;ENSP00000379385:V159M	ENSP00000229319:V159M	V	-	1	0	LDHB	21686273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.076000	0.71267	2.679000	0.91253	0.644000	0.83932	GTG		0.398	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		81	348	0	0	0	1	0	81	348					T	21795006	C	T	21795006	3	4	79	1	0	0	0	0	1	0	0	0	8732	536	19	1	545	1	LDHB	12	21795006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105001	21795006	112056889	13117	23434											
KCNJ8	3764	broad.mit.edu	37	chr12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagccaccacatgatagCgaagagcagccagctgcaga	10	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	88					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACATGATAGCGAAGAGCAGC	0.517											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(262-264)Gct>Act		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						137	114	122					12																	21926289		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926289C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.262G>A	12.37:g.21926289C>T	ENSP00000240662:p.Ala88Thr		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.A88T	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			2	607	-			88					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.262G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153019	0.94645	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94576	-3.46;-3.46	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98397	1.0566	10	0.87932	D	0	.	17.2713	0.87103	0.0:1.0:0.0:0.0	.	88	Q15842	IRK8_HUMAN	T	88	ENSP00000240662:A88T;ENSP00000440012:A88T	ENSP00000240662:A88T	A	-	1	0	KCNJ8	21817556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.303000	0.77524	0.467000	0.42956	GCT		0.517	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		78	413	0	0	0	1	0	78	413					T	21926289	C	T	21926289	3	4	79	1	0	0	0	0	1	0	0	0	8086	768	27	1	1020	1	KCNJ8	12	21926289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131283	21926289	111925606	13118	23435											
ABCC9	10060	broad.mit.edu	37	chr12	21958192	21958192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacactccactaaaatAccctcagaaaagactaaaac	3	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21958192A>G	ENST00000261201.4	-	38	4565	c.4566T>C	c.(4564-4566)ggT>ggC	p.G1522G	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Silent_p.G1486G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCACTAAAATACCCTCAGAAA	0.408																																						ENST00000261201.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4564-4566)ggT>ggC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						132	121	125					12																	21958192		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958192A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4566T>C	12.37:g.21958192A>G						ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Silent_p.G1486G	p.G1522G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN			38	4565	-			1522			ABC transporter 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.4566T>C	CCDS8694.1																																																																																				0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		6	206	0	0	0	1	0	6	206					G	21958192	A	G	21958192	2	3	79	1	0	0	0	0	0	0	0	1	59	378	14	4		4	ABCC9	12	21958192	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31903	21958192	111893703	13119	23436											
ABCC9	10060	broad.mit.edu	37	chr12	21998636	21998636	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatgcttcaaaagcttagaGaaaatcatcaggatgagcag	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261201.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.F999F|ABCC9_ENST00000345162.2_Silent_p.F963F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	999	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2995-2997)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						141	119	127					12																	21998636		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998636G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2997C>T	12.37:g.21998636G>A						ABCC9_ENST00000261201.4_Silent_p.F999F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F963F	p.F999F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			24	2996	-			999			ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.2997C>T	CCDS8694.1																																																																																				0.448	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		35	207	0	0	0	1	0	35	207					A	21998636	G	A	21998636	2	1	79	1	0	0	0	0	0	0	0	1	59	933	33	2		2	ABCC9	12	21998636	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40444	21998636	111853259	13120	23437											
ST8SIA1	6489	broad.mit.edu	37	chr12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctgaacgctctggccgCggtctggttcctcctccacg	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000396037.4	-	1	701	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	74					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(220-222)Gcg>Acg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							61	59	59					12																	22486947		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22486947C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.220G>A	12.37:g.22486947C>T	ENSP00000379353:p.Ala74Thr					ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000539510.1_5'UTR	p.A74T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	701	-			74					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.220G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371959	0.42003	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.66460	-0.21;-0.21	4.45	3.53	0.40419	.	0.118546	0.56097	D	0.000031	T	0.55242	0.1908	L	0.48642	1.525	0.80722	D	1	P	0.42248	0.774	B	0.35312	0.2	T	0.59188	-0.7501	10	0.56958	D	0.05	-7.0017	11.121	0.48289	0.192:0.808:0.0:0.0	.	74	Q92185	SIA8A_HUMAN	T	74;51;74;74	ENSP00000379353:A74T;ENSP00000440292:A51T	ENSP00000261197:A74T	A	-	1	0	ST8SIA1	22378214	0.999000	0.42202	0.979000	0.43373	0.973000	0.67179	4.695000	0.61767	1.131000	0.42111	0.563000	0.77884	GCG		0.652	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		84	353	0	0	0	1	0	84	353					T	22486947	C	T	22486947	3	4	79	1	0	0	0	0	1	0	0	0	15283	768	27	1	870	1	ST8SIA1	12	22486947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488311	22486947	111364948	13121	23438											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccacgccagtacagCcatggcccctctggacgttt	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000396037.4	-	1	530	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	17					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(49-51)Gct>Act		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							56	56	56					12																	22487118		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487118C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.49G>A	12.37:g.22487118C>T	ENSP00000379353:p.Ala17Thr					ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000539510.1_5'UTR	p.A17T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	530	-			17					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.49G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315728	0.60524	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.27256	1.68	4.39	4.39	0.52855	.	0.168872	0.41097	D	0.000955	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.07501	-1.0769	10	0.87932	D	0	-12.5297	14.6168	0.68556	0.0:1.0:0.0:0.0	.	17	Q92185	SIA8A_HUMAN	T	17	ENSP00000379353:A17T	ENSP00000261197:A17T	A	-	1	0	ST8SIA1	22378385	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.223000	0.42936	2.397000	0.81536	0.655000	0.94253	GCT		0.701	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		105	412	0	0	0	1	0	105	412					T	22487118	C	T	22487118	3	4	79	1	0	0	0	0	1	0	0	0	15283	739	26	2	1041	2	ST8SIA1	12	22487118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	22487118	111364777	13122	23439											
KIAA0528	9847	broad.mit.edu	37	chr12	22602810	22602810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgcatcaccacttacatTtataagacactgtgcctata	4	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22602810T>G	ENST00000333957.4	-	25	3142	c.2887A>C	c.(2887-2889)Aat>Cat	p.N963H	C2CD5_ENST00000545552.1_Missense_Mutation_p.N1017H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N1016H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N1005H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N819H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	963					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CCACTTACATTTATAAGACAC	0.423																																						ENST00000333957.4																			0											c.(2887-2889)Aat>Cat		C2 calcium-dependent domain containing 5							174	146	155					12																	22602810		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22602810T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2887A>C	12.37:g.22602810T>G	ENSP00000334229:p.Asn963His					C2CD5_ENST00000545552.1_Missense_Mutation_p.N1017H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N819H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N1016H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N1005H	p.N963H	NM_014802.1	NP_055617.1					25	3142	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2887A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711795|3.711795	0.68730|0.68730	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.19;-0.18;-0.18;-0.16|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60932|.	0.2307|.	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999969|0.999969	P;P;D;D;P|.	0.89917|.	0.775;0.618;0.958;1.0;0.578|.	P;B;P;D;B|.	0.91635|.	0.481;0.207;0.869;0.999;0.159|.	T|.	0.59156|.	-0.7507|.	10|.	0.49607|.	T|.	0.09|.	-22.3249|-22.3249	14.2395|14.2395	0.65948|0.65948	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1016;1014;819;1005;963|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	963;1014;1016;1005;1014;1017;819|263	ENSP00000334229:N963H;ENSP00000388756:N1014H;ENSP00000439392:N1016H;ENSP00000379345:N1005H;ENSP00000441951:N1014H;ENSP00000443204:N1017H|.	ENSP00000334229:N963H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22494077|22494077	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.910000|0.910000	0.53928|0.53928	6.748000|6.748000	0.74877|0.74877	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.423	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		101	427	0	0	0	1	0	101	427					G	22602810	T	G	22602810	3	3	79	1	0	0	0	0	1	0	0	0	8212	1841	64	4	119	4	KIAA0528	12	22602810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115692	22602810	111249085	13123	23440											
KIAA0528	9847	broad.mit.edu	37	chr12	22624371	22624371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagatactgtaaaatTtacatggcaaaggcagcagg	12	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22624371T>G	ENST00000333957.4	-	20	2575	c.2320A>C	c.(2320-2322)Aat>Cat	p.N774H	C2CD5_ENST00000545552.1_Missense_Mutation_p.N787H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N776H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N774H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N765H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N774H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N589H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	774					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACTGTAAAATTTACATGGCAA	0.284																																						ENST00000333957.4																			0											c.(2320-2322)Aat>Cat		C2 calcium-dependent domain containing 5							66	70	69					12																	22624371		2203	4297	6500	SO:0001583	missense	9847							g.chr12:22624371T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2320A>C	12.37:g.22624371T>G	ENSP00000334229:p.Asn774His					C2CD5_ENST00000545552.1_Missense_Mutation_p.N787H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N589H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N774H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N774H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N776H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N765H	p.N774H	NM_014802.1	NP_055617.1					20	2575	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2320A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.19|18.19	3.568629|3.568629	0.65651|0.65651	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66099|.	-0.16;-0.17;-0.19;-0.19;-0.17;-0.19|.	5.53|5.53	3.12|3.12	0.35913|0.35913	.|.	0.178860|.	0.46758|.	D|.	0.000265|.	T|.	0.53610|.	0.1807|.	L|L	0.46157|0.46157	1.445|1.445	0.45464|0.45464	D|D	0.998436|0.998436	D;D;D;D;D|.	0.89917|.	0.998;0.999;0.998;1.0;0.998|.	D;D;D;D;P|.	0.91635|.	0.953;0.949;0.979;0.999;0.896|.	T|.	0.41770|.	-0.9490|.	10|.	0.54805|.	T|.	0.06|.	-19.1171|-19.1171	7.0259|7.0259	0.24940|0.24940	0.1328:0.0726:0.0:0.7945|0.1328:0.0726:0.0:0.7945	.|.	776;774;589;765;774|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	774;774;776;765;774;787;589|57	ENSP00000334229:N774H;ENSP00000388756:N774H;ENSP00000439392:N776H;ENSP00000379345:N765H;ENSP00000441951:N774H;ENSP00000443204:N787H|.	ENSP00000334229:N774H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22515638|22515638	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	5.257000|5.257000	0.65473|0.65473	0.364000|0.364000	0.24374|0.24374	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.284	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		63	265	0	0	0	1	0	63	265					G	22624371	T	G	22624371	3	3	79	1	0	0	0	0	1	0	0	0	8212	1841	64	4	706	4	KIAA0528	12	22624371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21561	22624371	111227524	13124	23441											
SOX5	6660	broad.mit.edu	37	chr12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggattgccttggtgacaGcatcatggtcatttaagtaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000451604.2	-	11	1465	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000546136.1_Missense_Mutation_p.A442D|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	455					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTGGTGACAGCATCATGGTC	0.428																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1324-1326)gCt>gAt		SRY (sex determining region Y)-box 5							165	142	150					12																	23716316		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23716316G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1364C>A	12.37:g.23716316G>T	ENSP00000398273:p.Ala455Asp					SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000451604.2_Missense_Mutation_p.A455D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D	p.A442D			P35711	SOX5_HUMAN			10	1327	-			455					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1325C>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206963	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;P;D	0.85130	0.931;0.856;0.997	T	0.74645	-0.3596	10	0.87932	D	0	.	15.1758	0.72910	0.0671:0.0:0.9328:0.0	.	420;455;69	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	D	442;442;455;407;420;69;445	ENSP00000437487:A442D;ENSP00000308927:A442D;ENSP00000398273:A455D;ENSP00000439832:A420D;ENSP00000379328:A69D;ENSP00000443520:A445D	ENSP00000308927:A442D	A	-	2	0	SOX5	23607583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	1.558000	0.49541	0.655000	0.94253	GCT		0.428	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		112	497	1	0	9.0003e-69	1	1.14156e-68	112	497					T	23716316	G	T	23716316	3	4	79	1	0	0	0	0	1	0	0	0	15004	971	34	3	947	3	SOX5	12	23716316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1091945	23716316	110135579	13125	23442											
SOX5	6660	broad.mit.edu	37	chr12	23893858	23893858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtttctcaatctgagaGgcagctagtttcttctgctc	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000451604.2	-	5	785	c.684C>A	c.(682-684)gcC>gcA	p.A228A	SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000546136.1_Silent_p.A215A|SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAATCTGAGAGGCAGCTAGTT	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(643-645)gcC>gcA		SRY (sex determining region Y)-box 5							114	103	107					12																	23893858		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23893858G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.684C>A	12.37:g.23893858G>T						SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000451604.2_Silent_p.A228A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A	p.A215A			P35711	SOX5_HUMAN			4	647	-			228					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.645C>A	CCDS8699.1																																																																																				0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		76	314	1	0	3.25985e-27	1	3.7718e-27	76	314					T	23893858	G	T	23893858	2	4	79	1	0	0	0	0	0	0	0	1	15004	987	35	3		3	SOX5	12	23893858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177542	23893858	109958037	13126	23443											
SOX5	6660	broad.mit.edu	37	chr12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaactcctgaggtaaaTcagggtcagtaagcatgctg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000381381.2_5'UTR			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	6					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGGTAAATCAGGGTCAGT	0.423																																						ENST00000451604.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(16-18)gAt>gGt		SRY (sex determining region Y)-box 5							120	107	111					12																	24102519		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24102519T>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.17A>G	12.37:g.24102519T>C	ENSP00000398273:p.Asp6Gly					SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron	p.D6G			P35711	SOX5_HUMAN			1	118	-			6					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.17A>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	t	13.30	2.197084	0.38806	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97279	-4.27;-4.32	5.28	5.28	0.74379	.	0.193467	0.43110	D	0.000609	D	0.94142	0.8121	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.083	B;B	0.30029	0.11;0.051	D	0.92567	0.6063	10	0.56958	D	0.05	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	6;6	G3V0H1;P35711	.;SOX5_HUMAN	G	6	ENSP00000398273:D6G;ENSP00000439832:D6G	ENSP00000393240:D6G	D	-	2	0	SOX5	23993786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.689000	0.74562	2.125000	0.65367	0.524000	0.50904	GAT		0.423	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		10	295	0	0	0	1	0	10	295					C	24102519	T	C	24102519	3	2	79	1	0	0	0	0	1	0	0	0	15004	1435	50	4	2344	4	SOX5	12	24102519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208661	24102519	109749376	13127	23444											
BCAT1	586	broad.mit.edu	37	chr12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcagtttgcacctcagttCcaatgaatgtaggacgaata	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACCTCAGTTCCAATGAATGT	0.378																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(502-504)gGa>gAa		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						75	74	74					12																	25031471		1941	4147	6088	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25031471C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.503G>A	12.37:g.25031471C>T	ENSP00000261192:p.Gly168Glu					BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E	p.G168E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			5	1029	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		168					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.503G>A	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156952	0.78114	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.78595	1.92;1.92;1.92;1.92;1.92;-1.19	6.17	6.17	0.99709	.	0.055262	0.64402	D	0.000001	D	0.92941	0.7754	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.79784	0.982;0.988;0.982;0.993;0.988	D	0.94436	0.7654	10	0.87932	D	0	0.7255	19.6509	0.95805	0.0:1.0:0.0:0.0	.	131;180;107;168;167	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	168;167;107;180;131;144	ENSP00000261192:G168E;ENSP00000440817:G167E;ENSP00000339805:G107E;ENSP00000443459:G180E;ENSP00000440827:G131E;ENSP00000438593:G144E	ENSP00000261192:G168E	G	-	2	0	BCAT1	24922738	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	6.234000	0.72326	2.941000	0.99782	0.655000	0.94253	GGA		0.378	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		12	150	0	0	0	1	0	12	150					T	25031471	C	T	25031471	3	4	79	1	0	0	0	0	1	0	0	0	1355	855	30	2	685	2	BCAT1	12	25031471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928952	25031471	108820424	13128	23445											
LRMP	4033	broad.mit.edu	37	chr12	25232195	25232195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaatggtgttgaacgCgtgtgtcctgagagcctgct	15	7	0	3	rs114104872	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		19765	0.003		0.0	False		,,,				2504	0.0					ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(40-42)cgC>cgT		lymphoid-restricted membrane protein		C	,,	1,4405	2.1+/-5.4	0,1,2202	288	260	270		42,42,42	0.8	0	12	dbSNP_132	270	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	14/500,14/500,14/500	25232195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232195C>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.42C>T	12.37:g.25232195C>T						LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			6	871	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		70					A0AVM2|B4E077|Q8N301	Silent	SNP	ENST00000354454.3	37	c.42C>T	CCDS8701.1																																																																																				0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		115	612	0	0	0	1	0	115	612					T	25232195	C	T	25232195	2	4	79	1	0	0	0	0	0	0	0	1	8988	755	27	1		1	LRMP	12	25232195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200724	25232195	108619700	13129	23446											
LRMP	4033	broad.mit.edu	37	chr12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcgctctgtaagaaagaGgaggatacaagatcagcttc	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	124					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(202-204)gaG>gaT		lymphoid-restricted membrane protein							108	105	106					12																	25232657		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232657G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.204G>T	12.37:g.25232657G>T	ENSP00000346442:p.Glu68Asp					LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			8	1033	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		124					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.204G>T	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625834	0.46840	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000536173;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	4.61	-0.682	0.11339	.	0.705422	0.12924	N	0.427953	T	0.14527	0.0351	M	0.63428	1.95	0.09310	N	1	P	0.38711	0.643	B	0.37833	0.259	T	0.15809	-1.0424	10	0.30078	T	0.28	-2.9977	4.2181	0.10544	0.3862:0.1666:0.4471:0.0	.	124	Q12912	LRMP_HUMAN	D	68;68;68;15;68;68;68	ENSP00000448534:E68D;ENSP00000452116:E68D;ENSP00000346442:E68D;ENSP00000444056:E15D;ENSP00000446496:E68D;ENSP00000450634:E68D;ENSP00000450246:E68D	ENSP00000346442:E68D	E	+	3	2	LRMP	25123924	0.069000	0.21087	0.030000	0.17652	0.010000	0.07245	0.231000	0.17872	0.035000	0.15519	-0.827000	0.03088	GAG		0.403	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		48	270	1	0	2.43468e-25	1	2.79292e-25	48	270					T	25232657	G	T	25232657	3	4	79	1	0	0	0	0	1	0	0	0	8988	991	35	3	218	3	LRMP	12	25232657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	25232657	108619238	13130	23447											
CASC1	55259	broad.mit.edu	37	chr12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatagtaggttccacttgCtccaaccaaatgcaaaagca	6	11	0	0	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000320267.9	-	14	1913	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000354189.5_Missense_Mutation_p.S675N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	611										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCACTTGCTCCAACCAAA	0.348																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2023-2025)aGc>aAc		cancer susceptibility candidate 1							101	106	104					12																	25263104		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25263104C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1832G>A	12.37:g.25263104C>T	ENSP00000313141:p.Ser611Asn					CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000320267.9_Missense_Mutation_p.S611N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N	p.S675N	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		15	2059	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		611					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.2024G>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418820	0.83559	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	T;T;T;T;T	0.80566	-1.39;-0.45;-0.45;-0.99;-0.95	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.998	D	0.90453	0.4440	10	0.72032	D	0.01	-16.7377	17.6995	0.88290	0.0:1.0:0.0:0.0	.	499;552;675;611;617	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	N	675;617;611;571;499;552;421	ENSP00000346126:S675N;ENSP00000379310:S617N;ENSP00000313141:S611N;ENSP00000379313:S571N;ENSP00000437373:S552N	ENSP00000313141:S611N	S	-	2	0	CASC1	25154371	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.739000	0.68622	2.540000	0.85666	0.655000	0.94253	AGC		0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		51	232	0	0	0	1	0	51	232					T	25263104	C	T	25263104	3	4	79	1	0	0	0	0	1	0	0	0	2667	797	28	2	326	2	CASC1	12	25263104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30447	25263104	108588791	13131	23448											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	88	0	0	0	1	0	12	88					T	25398284	C	T	25398284	3	4	79	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135180	25398284	108453611	13132	23449											
IFLTD1	160492	broad.mit.edu	37	chr12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtattttaaagtttTctgagtgtagtttgagtgtg	11	1	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000282881.6	-	3	522	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	IFLTD1_ENST00000539744.1_Missense_Mutation_p.K28E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		125					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358																																						ENST00000539744.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(82-84)Aaa>Gaa		intermediate filament tail domain containing 1							90	88	89					12																	25699363		2203	4299	6502	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25699363T>C																												ENST00000282881.6:c.373A>G	12.37:g.25699363T>C	ENSP00000282881:p.Lys125Glu					IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000282881.6_Missense_Mutation_p.K125E	p.K28E	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN			4	561	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		125					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.82A>G	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783311	0.31593	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.15718	2.61;2.66;2.61;2.63;2.4	4.9	2.19	0.27852	.	.	.	.	.	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.42941	0.458;0.794;0.793;0.689	B;B;B;B	0.42738	0.194;0.194;0.396;0.223	T	0.20505	-1.0273	9	0.25106	T	0.35	-14.7294	6.9359	0.24466	0.0:0.1707:0.0:0.8293	.	62;146;146;125	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	125;28;146;62;146;100;100	ENSP00000282881:K125E;ENSP00000443132:K28E;ENSP00000407353:K146E;ENSP00000407043:K62E;ENSP00000393150:K146E	ENSP00000282881:K125E	K	-	1	0	IFLTD1	25590630	0.014000	0.17966	0.018000	0.16275	0.004000	0.04260	1.174000	0.31932	0.326000	0.23384	0.533000	0.62120	AAA		0.358	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			61	236	0	0	0	1	0	61	236					C	25699363	T	C	25699363	3	2	79	1	0	0	0	0	1	0	0	0	7560	1792	62	4	817	4	IFLTD1	12	25699363	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301079	25699363	108152532	13133	23450											
IFLTD1	160492	broad.mit.edu	37	chr12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtcaattgtccagTtgttgatatagttactctac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		63					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388																																						ENST00000282881.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(187-189)Act>Cct		intermediate filament tail domain containing 1							71	63	66					12																	25702320		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25702320T>G																												ENST00000282881.6:c.187A>C	12.37:g.25702320T>G	ENSP00000282881:p.Thr63Pro					IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	p.T63P	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN			2	336	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		63					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.187A>C	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	8.138	0.784586	0.16189	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.14640	2.7;2.71;2.49	3.7	-3.36	0.04913	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34161	0.439;0.439;0.312	B;B;B	0.32762	0.152;0.152;0.072	T	0.32587	-0.9901	9	0.40728	T	0.16	-4.1793	4.3876	0.11325	0.17:0.4187:0.0:0.4113	.	84;84;63	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	P	63;84;84;38;38;38	ENSP00000282881:T63P;ENSP00000407353:T84P;ENSP00000393150:T84P	ENSP00000282881:T63P	T	-	1	0	IFLTD1	25593587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.468000	0.02350	-0.697000	0.05092	0.528000	0.53228	ACT		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			31	150	0	0	0	1	0	31	150					G	25702320	T	G	25702320	3	3	79	1	0	0	0	0	1	0	0	0	7560	1725	60	4	1007	4	IFLTD1	12	25702320	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2957	25702320	108149575	13134	23451											
RASSF8	11228	broad.mit.edu	37	chr12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgtctctcagtgagCgacccacttcagacagtgtg	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	87					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(259-261)Cga>Tga		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							107	106	106					12																	26217586		2203	4300	6503	SO:0001587	stop_gained	11228				signal transduction			g.chr12:26217586C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.259C>T	12.37:g.26217586C>T	ENSP00000384491:p.Arg87*					RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*	p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			3	458	+	Colorectal(261;0.0847)		87					A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP	ENST00000405154.2	37	c.259C>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687605	0.68157	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	.	.	.	5.19	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1902	12.9569	0.58432	0.4002:0.5998:0.0:0.0	.	.	.	.	X	87	.	ENSP00000282884:R87X	R	+	1	2	RASSF8	26108853	0.999000	0.42202	0.998000	0.56505	0.500000	0.33767	0.663000	0.25053	1.319000	0.45190	0.591000	0.81541	CGA		0.473	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		139	500	0	0	0	1	0	139	500					T	26217586	C	T	26217586	4	4	79	1	0	0	0	0	0	1	0	0	13142	760	27	1	265	1	RASSF8	12	26217586	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515266	26217586	107634309	13135	23452											
SSPN	8082	broad.mit.edu	37	chr12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgccgtgaccgtggtgGgcttcctcatggcgagcatc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000422622.2_Intron|SSPN_ENST00000540266.1_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	71					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)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GACCGTGGTGGGCTTCCTCAT	0.642																																						ENST00000242729.2																			0				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(211-213)Ggc>Agc		sarcospan							43	23	30					12																	26348816		2147	4256	6403	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26348816G>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.211G>A	12.37:g.26348816G>A	ENSP00000242729:p.Gly71Ser					SSPN_ENST00000422622.2_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000540266.1_Intron	p.G71S	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN			1	388	+	Colorectal(261;0.0847)		71					B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.211G>A	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138322	0.77775	.	.	ENSG00000123096	ENST00000242729;ENST00000441067;ENST00000535504	T;T	0.04454	3.62;3.62	4.16	4.16	0.48862	.	0.060238	0.64402	D	0.000002	T	0.05044	0.0135	N	0.15975	0.35	0.43761	D	0.996276	P;P;P	0.51537	0.946;0.889;0.896	P;P;P	0.50314	0.637;0.526;0.548	T	0.52931	-0.8509	10	0.35671	T	0.21	-16.8356	9.7617	0.40537	0.0945:0.0:0.9055:0.0	.	71;71;71	F5H0K2;A1YBP2;Q14714	.;.;SSPN_HUMAN	S	71;45;71	ENSP00000242729:G71S;ENSP00000438801:G71S	ENSP00000242729:G71S	G	+	1	0	SSPN	26240083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.321000	0.78463	0.655000	0.94253	GGC		0.642	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		7	51	0	0	0	1	0	7	51					A	26348816	G	A	26348816	3	1	79	1	0	0	0	0	1	0	0	0	15240	1232	43	2	213	2	SSPN	12	26348816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131230	26348816	107503079	13136	23453											
ITPR2	3709	broad.mit.edu	37	chr12	26636792	26636792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagggtctcacagactaGgttgtaatttgttttgttgt	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26636792G>T	ENST00000381340.3	-	42	6267	c.5851C>A	c.(5851-5853)Cta>Ata	p.L1951I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1951					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)		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)	TCACAGACTAGGTTGTAATTT	0.408																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(5851-5853)Cta>Ata		inositol 1,4,5-trisphosphate receptor, type 2							152	143	146					12																	26636792		1849	4092	5941	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.chr12:26636792G>T	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.5851C>A	12.37:g.26636792G>T	ENSP00000370744:p.Leu1951Ile						p.L1951I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			42	6267	-	Colorectal(261;0.0847)		1951					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5851C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625897	0.87560	.	.	ENSG00000123104	ENST00000381340	D	0.95622	-3.76	5.17	4.26	0.50523	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95478	0.8558	10	0.34782	T	0.22	.	14.1395	0.65311	0.0732:0.0:0.9268:0.0	.	1951	Q14571	ITPR2_HUMAN	I	1951	ENSP00000370744:L1951I	ENSP00000370744:L1951I	L	-	1	2	ITPR2	26528059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.670000	0.83925	2.671000	0.90904	0.586000	0.80456	CTA		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	684	1	0	1.49906e-05	1	1.53515e-05	12	684					T	26636792	G	T	26636792	3	4	79	1	0	0	0	0	1	0	0	0	7951	991	35	3	2318	3	ITPR2	12	26636792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287976	26636792	107215103	13137	23454											
ITPR2	3709	broad.mit.edu	37	chr12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttatggccagatactggcGatccaagcacatccttgcaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					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)		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)	AGATACTGGCGATCCAAGCAC	0.448																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(2230-2232)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 2							68	70	69					12																	26809444		1998	4176	6174	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.chr12:26809444G>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.2230C>T	12.37:g.26809444G>A	ENSP00000370744:p.Arg744Cys						p.R744C	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2646	-	Colorectal(261;0.0847)		744					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2230C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452183	0.84209	.	.	ENSG00000123104	ENST00000381340	D	0.95690	-3.78	4.62	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	.	14.7522	0.69533	0.0:0.0:0.8553:0.1447	.	744	Q14571	ITPR2_HUMAN	C	744	ENSP00000370744:R744C	ENSP00000370744:R744C	R	-	1	0	ITPR2	26700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.546000	0.85860	0.655000	0.94253	CGC		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		23	249	0	0	0	1	0	23	249					A	26809444	G	A	26809444	3	1	79	1	0	0	0	0	1	0	0	0	7951	1058	37	1	6031	1	ITPR2	12	26809444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172652	26809444	107042451	13138	23455											
ITPR2	3709	broad.mit.edu	37	chr12	26816642	26816642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttccggtaatcctgctgCgagtgtctcaggacgcggta	12	10	1	0	rs539458742	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	563					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)		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)	AATCCTGCTGCGAGTGTCTCA	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		16654	0.0		0.0	False		,,,				2504	0.002					ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(1687-1689)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 2							240	241	240					12																	26816642		1874	4108	5982	SO:0001819	synonymous_variant	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.chr12:26816642C>T	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.1689G>A	12.37:g.26816642C>T							p.S563S	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			15	2105	-	Colorectal(261;0.0847)		563					O94773	Silent	SNP	ENST00000381340.3	37	c.1689G>A	CCDS41764.1																																																																																				0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		326	1343	0	0	0	1	0	326	1343					T	26816642	C	T	26816642	2	4	79	1	0	0	0	0	0	0	0	1	7951	755	27	1		1	ITPR2	12	26816642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7198	26816642	107035253	13139	23456											
C12orf11	55726	broad.mit.edu	37	chr12	27069065	27069065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctactaagcatatgactaAtgactttagaacctgacttt	7	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27069065A>G	ENST00000261191.7	-	11	1654	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	ASUN_ENST00000539625.1_Missense_Mutation_p.I272T	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	373					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CATATGACTAATGACTTTAGA	0.388																																						ENST00000261191.7																			0											c.(1117-1119)aTt>aCt		asunder spermatogenesis regulator							94	81	85					12																	27069065		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27069065A>G	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1118T>C	12.37:g.27069065A>G	ENSP00000261191:p.Ile373Thr					ASUN_ENST00000539625.1_Missense_Mutation_p.I272T	p.I373T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			11	1654	-			373					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1118T>C	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104347	0.37145	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.31207	0.915	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.45716	-0.9242	10	0.11794	T	0.64	-22.904	16.5479	0.84454	1.0:0.0:0.0:0.0	.	373	Q9NVM9	M89BB_HUMAN	T	77;373;272	ENSP00000445645:I77T;ENSP00000261191:I373T;ENSP00000443724:I272T	ENSP00000261191:I373T	I	-	2	0	C12orf11	26960332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.266000	0.95659	2.371000	0.80710	0.533000	0.62120	ATT		0.388	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		46	164	0	0	0	1	0	46	164					G	27069065	A	G	27069065	3	3	79	1	0	0	0	0	1	0	0	0	1680	101	4	4	1030	4	C12orf11	12	27069065	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252423	27069065	106782830	13140	23457											
C12orf11	55726	broad.mit.edu	37	chr12	27089588	27089588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctactgagcaagtccacaatGatttagatatgggggccaaa	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27089588G>A	ENST00000261191.7	-	2	685	c.149C>T	c.(148-150)tCa>tTa	p.S50L	FGFR1OP2_ENST00000546072.1_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	50					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTCCACAATGATTTAGATAT	0.383																																						ENST00000261191.7																			0											c.(148-150)tCa>tTa		asunder spermatogenesis regulator							91	94	93					12																	27089588		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27089588G>A	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.149C>T	12.37:g.27089588G>A	ENSP00000261191:p.Ser50Leu					ASUN_ENST00000539625.1_Intron	p.S50L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			2	685	-			50					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.149C>T	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846618	0.91277	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.51817	0.69;0.69;0.69	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.75615	2.305	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.72991	-0.4123	10	0.87932	D	0	-13.228	19.7937	0.96469	0.0:0.0:1.0:0.0	.	50	Q9NVM9	M89BB_HUMAN	L	50	ENSP00000261191:S50L;ENSP00000446183:S50L;ENSP00000443066:S50L	ENSP00000261191:S50L	S	-	2	0	C12orf11	26980855	1.000000	0.71417	0.977000	0.42913	0.625000	0.37756	9.388000	0.97237	2.749000	0.94314	0.655000	0.94253	TCA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		7	317	0	0	0	1	0	7	317					A	27089588	G	A	27089588	3	1	79	1	0	0	0	0	1	0	0	0	1680	1294	45	2	2035	2	C12orf11	12	27089588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20523	27089588	106762307	13141	23458											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcagtaatgaggaaaGccattgaaattgacgagcaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000229395.3	+	6	907	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	189					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(565-567)Gcc>Tcc		FGFR1 oncogene partner 2							86	80	82					12																	27116329		2203	4300	6503	SO:0001583	missense	26127					cytoplasm		g.chr12:27116329G>T	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.565G>T	12.37:g.27116329G>T	ENSP00000229395:p.Ala189Ser					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	p.A189S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			6	907	+	Colorectal(261;0.0847)		189					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	c.565G>T	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	.	34	5.336050	0.95758	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.047999	0.85682	N	0.000000	D	0.83672	0.5305	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.985	D	0.84292	0.0500	9	0.52906	T	0.07	-24.0077	19.6699	0.95907	0.0:0.0:1.0:0.0	.	151;189	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	S	189;151	.	ENSP00000229395:A189S	A	+	1	0	FGFR1OP2	27007596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GCC		0.373	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		47	167	1	0	7.34454e-26	1	8.44522e-26	47	167					T	27116329	G	T	27116329	3	4	79	1	0	0	0	0	1	0	0	0	5890	971	34	3	592	3	FGFR1OP2	12	27116329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26741	27116329	106735566	13142	23459											
TM7SF3	51768	broad.mit.edu	37	chr12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccaagtgcatgtactctgCtctggtctaaggatgaaaac	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	104						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(310-312)gaG>gaT		transmembrane 7 superfamily member 3							155	137	143					12																	27152544		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27152544C>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.312G>T	12.37:g.27152544C>A	ENSP00000342322:p.Glu104Asp					TM7SF3_ENST00000542667.1_5'UTR	p.E104D	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			3	537	-	Colorectal(261;0.0847)		104					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.312G>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211589	0.58452	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.41	3.45	0.39498	.	0.339974	0.32868	N	0.005544	T	0.22742	0.0549	L	0.53249	1.67	0.26920	N	0.966702	B	0.18863	0.031	B	0.10450	0.005	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.2613	5.3827	0.16199	0.0:0.6159:0.1763:0.2078	.	104	Q9NS93	TM7S3_HUMAN	D	104;83;109	ENSP00000342322:E104D	ENSP00000342322:E104D	E	-	3	2	TM7SF3	27043811	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	0.065000	0.14466	2.459000	0.83118	0.655000	0.94253	GAG		0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		65	270	1	0	7.37877e-41	1	8.9561e-41	65	270					A	27152544	C	A	27152544	3	1	79	1	0	0	0	0	1	0	0	0	16027	796	28	3	1440	3	TM7SF3	12	27152544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36215	27152544	106699351	13143	23460											
C12orf71	728858	broad.mit.edu	37	chr12	27234975	27234975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggaaatacagcgtcatCatctttcagattttctagaa	6	8	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27234975C>T	ENST00000429849.2	-	1	472	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	148										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ACAGCGTCATCATCTTTCAGA	0.418																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(442-444)Gat>Aat		chromosome 12 open reading frame 71							56	52	53					12																	27234975		1851	4096	5947	SO:0001583	missense	728858							g.chr12:27234975C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.442G>A	12.37:g.27234975C>T	ENSP00000413728:p.Asp148Asn						p.D148N	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	472	-			148						Missense_Mutation	SNP	ENST00000429849.2	37	c.442G>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565368	0.27915	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.52983	0.64	3.22	2.32	0.28847	.	0.000000	0.32918	U	0.005496	T	0.24198	0.0586	N	0.11560	0.145	0.09310	N	1	B	0.30851	0.297	B	0.27170	0.077	T	0.16660	-1.0395	10	0.87932	D	0	-0.5384	6.3487	0.21363	0.0:0.8568:0.0:0.1432	.	148	A8MTZ7	CL071_HUMAN	N	148	ENSP00000413728:D148N	ENSP00000381796:D148N	D	-	1	0	C12orf71	27126242	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.242000	0.18087	0.689000	0.31550	0.511000	0.50034	GAT		0.418	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		4	33	0	0	0	1	0	4	33					T	27234975	C	T	27234975	3	4	79	1	0	0	0	0	1	0	0	0	1717	826	29	2	375	2	C12orf71	12	27234975	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82431	27234975	106616920	13144	23461											
STK38L	23012	broad.mit.edu	37	chr12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcaattatacctataAaaggtttgaagggttgactc	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATACCTATAAAAGGTTTGAA	0.378																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(1330-1332)aAa>aCa		serine/threonine kinase 38 like							105	114	111					12																	27475324		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27475324A>C	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1331A>C	12.37:g.27475324A>C	ENSP00000373684:p.Lys444Thr					STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	p.K444T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			14	1500	+	Colorectal(261;0.0847)		444			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000389032.3	37	c.1331A>C	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441338	0.43326	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.105878	0.64402	D	0.000008	T	0.77705	0.4170	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.984;0.99	D	0.83676	0.0169	10	0.87932	D	0	.	14.8942	0.70630	1.0:0.0:0.0:0.0	.	351;444	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	444;351	ENSP00000373684:K444T;ENSP00000446386:K351T	ENSP00000373684:K444T	K	+	2	0	STK38L	27366591	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	9.319000	0.96338	1.978000	0.57642	0.377000	0.23210	AAA		0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		127	572	0	0	0	1	0	127	572					C	27475324	A	C	27475324	3	2	79	1	0	0	0	0	1	0	0	0	15356	14	1	4	1381	4	STK38L	12	27475324	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240349	27475324	106376571	13145	23462											
MRPS35	60488	broad.mit.edu	37	chr12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgttgaccaggactggCctagtgtttacccagttgca	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408																																						ENST00000081029.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(199-201)Cct>Tct		mitochondrial ribosomal protein S35							95	89	91					12																	27869269		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869269C>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.199C>T	12.37:g.27869269C>T	ENSP00000081029:p.Pro67Ser					MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	p.P67S	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			3	270	+	Lung SC(9;0.0873)		67					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.199C>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829827	0.16749	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	5.81	2.73	0.32206	.	0.338596	0.34700	N	0.003748	T	0.23766	0.0575	L	0.39467	1.215	0.30240	N	0.795102	B;B	0.22146	0.022;0.065	B;B	0.22753	0.041;0.018	T	0.14117	-1.0484	10	0.07813	T	0.8	-10.0961	1.6724	0.02814	0.235:0.4684:0.1204:0.1762	.	67;67	P82673-2;P82673	.;RT35_HUMAN	S	67	ENSP00000081029:P67S;ENSP00000445390:P67S	ENSP00000081029:P67S	P	+	1	0	MRPS35	27760536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.630000	0.46494	0.792000	0.33850	-0.150000	0.13652	CCT		0.408	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		61	278	0	0	0	1	0	61	278					T	27869269	C	T	27869269	3	4	79	1	0	0	0	0	1	0	0	0	9885	739	26	2	209	2	MRPS35	12	27869269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393945	27869269	105982626	13146	23463											
CCDC91	55297	broad.mit.edu	37	chr12	28459812	28459812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctaacatacagcttcaGcaaaaaatttcaagtctgga	6	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28459812G>A	ENST00000545336.1	+	8	824	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	135					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TACAGCTTCAGCAAAAAATTT	0.328																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(403-405)caG>caA		coiled-coil domain containing 91							68	71	70					12																	28459812		2203	4300	6503	SO:0001819	synonymous_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459812G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.405G>A	12.37:g.28459812G>A						CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q	p.Q135Q			Q7Z6B0	CCD91_HUMAN			8	824	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		135					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	c.405G>A	CCDS8716.1																																																																																				0.328	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		10	291	0	0	0	1	0	10	291					A	28459812	G	A	28459812	2	1	79	1	0	0	0	0	0	0	0	1	2877	962	34	2		2	CCDC91	12	28459812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590543	28459812	105392083	13147	23464											
CCDC91	55297	broad.mit.edu	37	chr12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccacaaacaggaaaCtgttaaggcagcaataatag	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	369	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACAGGAAACTGTTAAGGCA	0.398																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1105-1107)aCt>aAt		coiled-coil domain containing 91							65	68	67					12																	28636989		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28636989C>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1106C>A	12.37:g.28636989C>A	ENSP00000438040:p.Thr369Asn					CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N	p.T369N			Q7Z6B0	CCD91_HUMAN			15	1525	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		369			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.1106C>A	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554824|2.554824	0.45487|0.45487	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000542801|ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.|T;T;T;T;T;T;T	.|0.46819	.|1.43;0.99;1.43;1.43;0.99;1.42;0.86	5.83|5.83	3.69|3.69	0.42338|0.42338	.|.	.|0.199900	.|0.34906	.|N	.|0.003599	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.21579|0.21579	N|N	0.999638|0.999638	.|P;P;P	.|0.40794	.|0.514;0.729;0.729	.|B;P;P	.|0.45232	.|0.193;0.474;0.474	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.38643	.|T	.|0.18	-10.0404|-10.0404	8.9952|8.9952	0.36048|0.36048	0.0:0.8074:0.0:0.1926|0.0:0.8074:0.0:0.1926	.|.	.|333;369;339	.|Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.|.;CCD91_HUMAN;.	M|N	40|109;333;369;369;333;339;68	.|ENSP00000444440:T109N;ENSP00000440513:T333N;ENSP00000438040:T369N;ENSP00000370658:T369N;ENSP00000370655:T333N;ENSP00000305075:T339N;ENSP00000445999:T68N	.|ENSP00000305075:T339N	L|T	+|+	1|2	2|0	CCDC91|CCDC91	28528256|28528256	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.337000|1.337000	0.33862|0.33862	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.398	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		15	62	1	0	4.7546e-09	1	4.99022e-09	15	62					A	28636989	C	A	28636989	3	1	79	1	0	0	0	0	1	0	0	0	2877	565	20	3	1148	3	CCDC91	12	28636989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177177	28636989	105214906	13148	23465											
FAR2	55711	broad.mit.edu	37	chr12	29469871	29469871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcttcacatcacagtaCtggaatgcggtcagccaccg	9	13	3	0	rs370238878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_ENST00000182377.4_Silent_p.Y351Y|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.Y254Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	351					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1051-1053)taC>taT		fatty acyl CoA reductase 2		C		1,4405	2.1+/-5.4	0,1,2202	144	150	148		1053	2.4	1	12		148	0,8600		0,0,4300	no	coding-synonymous	FAR2	NM_018099.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		351/516	29469871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469871C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1053C>T	12.37:g.29469871C>T						FAR2_ENST00000547116.1_Silent_p.Y254Y|FAR2_ENST00000536681.2_Silent_p.Y351Y|RP11-996F15.2_ENST00000553105.1_RNA	p.Y351Y	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			9	1321	+			351					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.1053C>T	CCDS8717.1																																																																																				0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		236	1011	0	0	0	1	0	236	1011					T	29469871	C	T	29469871	2	4	79	1	0	0	0	0	0	0	0	1	5700	576	20	2		2	FAR2	12	29469871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832882	29469871	104382024	13149	23466											
OVCH1	341350	broad.mit.edu	37	chr12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T													ggggactaaatggagggatgCcacagacatctacagtaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	562						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAGGGATGCCACAGACATC	0.478																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1684-1686)gGc>gAc		ovochymase 1							46	46	46					12																	29624906		1927	4121	6048	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624906C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1685G>A	12.37:g.29624906C>T	ENSP00000326708:p.Gly562Asp					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.G562D	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1684	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		562						Missense_Mutation	SNP	ENST00000318184.5	37	c.1685G>A		.	.	.	.	.	.	.	.	.	.	C	16.96	3.266707	0.59540	.	.	ENSG00000187950	ENST00000318184	T	0.67523	-0.27	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.62780	0.2456	N	0.08118	0	0.36513	D	0.869735	D	0.89917	1.0	D	0.69654	0.965	T	0.72663	-0.4225	9	0.87932	D	0	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	562	Q7RTY7	OVCH1_HUMAN	D	562	ENSP00000326708:G562D	ENSP00000326708:G562D	G	-	2	0	OVCH1	29516173	0.994000	0.37717	0.401000	0.26359	0.922000	0.55478	3.254000	0.51477	1.520000	0.48965	0.650000	0.86243	GGC		0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		10	118	0	0	0	1	0	10	118					T	29624906	C	T	29624906	3	4	79	1	0	0	0	0	1	0	0	0	11365	739	26	2	1771	2	OVCH1	12	29624906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155035	29624906	104226989	13150	23467	149	2									
OVCH1	341350	broad.mit.edu	37	chr12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T													gactaaatggagggatgccaCagacatctacagtaaagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	561						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGGATGCCACAGACATCTAC	0.478																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1681-1683)tGt>tAt		ovochymase 1							45	45	45					12																	29624909		1921	4120	6041	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624909C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1682G>A	12.37:g.29624909C>T	ENSP00000326708:p.Cys561Tyr					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.C561Y	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1681	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		561						Missense_Mutation	SNP	ENST00000318184.5	37	c.1682G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531305	0.27387	.	.	ENSG00000187950	ENST00000318184	T	0.66280	-0.2	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.56790	0.2009	N	0.08118	0	0.25530	N	0.987281	D	0.65815	0.995	P	0.60682	0.878	T	0.52873	-0.8517	9	0.54805	T	0.06	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	561	Q7RTY7	OVCH1_HUMAN	Y	561	ENSP00000326708:C561Y	ENSP00000326708:C561Y	C	-	2	0	OVCH1	29516176	1.000000	0.71417	0.376000	0.26042	0.814000	0.46013	3.276000	0.51646	1.520000	0.48965	0.650000	0.86243	TGT		0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		32	94	0	0	0	1	0	32	94					T	29624909	C	T	29624909	3	4	79	1	0	0	0	0	1	0	0	0	11365	478	17	2	1774	2	OVCH1	12	29624909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	29624909	104226986	13151	23468	149	2									
OVCH1	341350	broad.mit.edu	37	chr12	29629167	29629167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttcttcagaatcaccGtaaatcacaacagcatcata	4	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	481	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGAATCACCGTAAATCACAA	0.398																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1441-1443)taC>taT		ovochymase 1							193	184	187					12																	29629167		1885	4115	6000	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29629167G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1443C>T	12.37:g.29629167G>A						OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.Y481Y	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			13	1442	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		481			CUB 2.			Silent	SNP	ENST00000318184.5	37	c.1443C>T																																																																																					0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		111	637	0	0	0	1	0	111	637					A	29629167	G	A	29629167	2	1	79	1	0	0	0	0	0	0	0	1	11365	1140	40	1		1	OVCH1	12	29629167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4258	29629167	104222728	13152	23469											
OVCH1	341350	broad.mit.edu	37	chr12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcttgccccatccactgGataagcaaagaattcctggt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	175	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATCCACTGGATAAGCAAAG	0.408																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(523-525)tCc>tTc		ovochymase 1							135	129	131					12																	29644056		1846	4093	5939	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29644056G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.524C>T	12.37:g.29644056G>A	ENSP00000326708:p.Ser175Phe						p.S175F	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			5	523	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		175			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.524C>T		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592696	0.28357	.	.	ENSG00000187950	ENST00000318184	D	0.92699	-3.09	2.47	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84037	0.5384	N	0.21194	0.64	0.09310	N	0.999997	B	0.24721	0.11	B	0.27500	0.08	T	0.73845	-0.3854	9	0.59425	D	0.04	.	4.6686	0.12678	0.3229:0.0:0.6771:0.0	.	175	Q7RTY7	OVCH1_HUMAN	F	175	ENSP00000326708:S175F	ENSP00000326708:S175F	S	-	2	0	OVCH1	29535323	0.757000	0.28394	0.327000	0.25402	0.064000	0.16182	0.845000	0.27668	0.150000	0.19136	-0.244000	0.11960	TCC		0.408	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		65	230	0	0	0	1	0	65	230					A	29644056	G	A	29644056	3	1	79	1	0	0	0	0	1	0	0	0	11365	1174	41	2	2976	2	OVCH1	12	29644056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14889	29644056	104207839	13153	23470											
OVCH1	341350	broad.mit.edu	37	chr12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttcatgttgaccatgcGaattccacacttcagtcctg	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R28C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428																																						ENST00000318184.5																			1	Substitution - Missense(1)	p.R28C(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(82-84)Cgc>Tgc		ovochymase 1							133	125	127					12																	29649590		1877	4126	6003	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649590G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.82C>T	12.37:g.29649590G>A	ENSP00000326708:p.Arg28Cys						p.R28C	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			2	81	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		28						Missense_Mutation	SNP	ENST00000318184.5	37	c.82C>T		.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	OVCH1	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		79	359	0	0	0	1	0	79	359					A	29649590	G	A	29649590	3	1	79	1	0	0	0	0	1	0	0	0	11365	1058	37	1	3430	1	OVCH1	12	29649590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	29649590	104202305	13154	23471											
TMTC1	83857	broad.mit.edu	37	chr12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtaatcgtttttctaggcGatccaatttggcaagatttt	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000539277.1	-	18	2660	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.R760C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTCTAGGCGATCCAATTTG	0.458																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2278-2280)Cgc>Tgc		transmembrane and tetratricopeptide repeat containing 1							260	254	256					12																	29659826		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659826G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2602C>T	12.37:g.29659826G>A	ENSP00000442046:p.Arg868Cys					TMTC1_ENST00000539277.1_Missense_Mutation_p.R868C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000319685.8_5'UTR	p.R760C	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2751	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		868					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2278C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219115	0.79464	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69806	-0.43;-0.23;-0.43;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86309	0.1685	10	0.66056	D	0.02	-14.4245	17.4952	0.87715	0.0:0.0:1.0:0.0	.	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	C	631;760;930;892;868	ENSP00000256062:R760C;ENSP00000448112:R930C;ENSP00000449043:R892C;ENSP00000442046:R868C	ENSP00000256062:R760C	R	-	1	0	TMTC1	29551093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.186000	0.65082	2.463000	0.83235	0.650000	0.86243	CGC		0.458	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		107	613	0	0	0	1	0	107	613					A	29659826	G	A	29659826	3	1	79	1	0	0	0	0	1	0	0	0	16312	1058	37	1	50	1	TMTC1	12	29659826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10236	29659826	104192069	13155	23472											
TMTC1	83857	broad.mit.edu	37	chr12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattccagtttggtataTttcttcagcttctttaaacc	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000539277.1	-	12	1868	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000256062.5_Missense_Mutation_p.I496V|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	604						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTGGTATATTTCTTCAGCT	0.333																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1486-1488)Ata>Gta		transmembrane and tetratricopeptide repeat containing 1							123	111	115					12																	29673629		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29673629T>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1810A>G	12.37:g.29673629T>C	ENSP00000442046:p.Ile604Val					RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Missense_Mutation_p.I604V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000319685.8_5'UTR	p.I496V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			12	1959	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		604					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1486A>G	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	0.309	-0.969137	0.02232	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.62639	0.01;0.01;0.28;0.01	5.14	1.02	0.19986	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.421087	0.25854	N	0.027877	T	0.31420	0.0796	N	0.04297	-0.235	0.21064	N	0.999796	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15578	-1.0432	9	.	.	.	-5.6208	6.5409	0.22380	0.0:0.4529:0.0:0.5471	.	604;666	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	V	367;496;666;628;604	ENSP00000256062:I496V;ENSP00000448112:I666V;ENSP00000449043:I628V;ENSP00000442046:I604V	.	I	-	1	0	TMTC1	29564896	0.125000	0.22332	0.036000	0.18154	0.953000	0.61014	0.436000	0.21526	0.355000	0.24131	0.533000	0.62120	ATA		0.333	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		64	252	0	0	0	1	0	64	252					C	29673629	T	C	29673629	3	2	79	1	0	0	0	0	1	0	0	0	16312	1493	52	4	866	4	TMTC1	12	29673629	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13803	29673629	104178266	13156	23473											
TMTC1	83857	broad.mit.edu	37	chr12	29673650	29673650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagcttctttaaaccGctcctttaaaaagaaagaaa	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673650G>A	ENST00000539277.1	-	12	1847	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000256062.5_Missense_Mutation_p.R489W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTTAAACCGCTCCTTTAAA	0.318																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1465-1467)Cgg>Tgg		transmembrane and tetratricopeptide repeat containing 1							86	79	81					12																	29673650		2203	4299	6502	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29673650G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1789C>T	12.37:g.29673650G>A	ENSP00000442046:p.Arg597Trp					RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Missense_Mutation_p.R597W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000319685.8_5'UTR	p.R489W	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			12	1938	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		597					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1465C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030790	0.54790	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.66099	-0.19;-0.19;0.14;-0.19	5.14	-0.253	0.12996	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.296514	0.32218	N	0.006413	T	0.79930	0.4531	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63192	0.912;0.862	T	0.79999	-0.1566	9	.	.	.	-9.8495	7.4504	0.27235	0.128:0.0:0.3992:0.4729	.	597;659	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	W	360;489;659;621;597	ENSP00000256062:R489W;ENSP00000448112:R659W;ENSP00000449043:R621W;ENSP00000442046:R597W	.	R	-	1	2	TMTC1	29564917	1.000000	0.71417	0.992000	0.48379	0.646000	0.38490	2.421000	0.44688	0.348000	0.23949	-0.256000	0.11100	CGG		0.318	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		45	193	0	0	0	1	0	45	193					A	29673650	G	A	29673650	3	1	79	1	0	0	0	0	1	0	0	0	16312	1086	38	1	887	1	TMTC1	12	29673650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	29673650	104178245	13157	23474											
TMTC1	83857	broad.mit.edu	37	chr12	29709921	29709921	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagcgcacttgcatgGcgtggatacaacctgaaaag	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000539277.1	-	10	1603	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.R407R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000381224.2_Silent_p.R469R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACTTGCATGGCGTGGATACA	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1219-1221)cgC>cgA		transmembrane and tetratricopeptide repeat containing 1							155	137	143					12																	29709921		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29709921G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1545C>A	12.37:g.29709921G>T						TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000539277.1_Silent_p.R515R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000319685.8_5'UTR	p.R407R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			10	1694	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		515					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1221C>A	CCDS53772.1																																																																																				0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		63	286	1	0	9.4991e-31	1	1.11549e-30	63	286					T	29709921	G	T	29709921	2	4	79	1	0	0	0	0	0	0	0	1	16312	1190	42	3		3	TMTC1	12	29709921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36271	29709921	104141974	13158	23475											
IPO8	10526	broad.mit.edu	37	chr12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtatgccagggaaagaAtttcttcatagaattctaga	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000256079.4	-	18	2302	c.1964T>C	c.(1963-1965)aTt>aCt	p.I655T	IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	655					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGGAAAGAATTTCTTCATA	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1963-1965)aTt>aCt		importin 8							49	56	53					12																	30806011		2200	4298	6498	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30806011A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1964T>C	12.37:g.30806011A>G	ENSP00000256079:p.Ile655Thr					IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	p.I655T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			18	2302	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		655					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1964T>C	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792267	0.31685	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.56941	0.43;0.43	4.78	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.093988	0.64402	N	0.000001	T	0.60064	0.2240	L	0.55103	1.725	0.58432	D	0.999995	B;D;P	0.57257	0.425;0.979;0.895	B;P;P	0.57846	0.3;0.828;0.468	T	0.59506	-0.7442	10	0.52906	T	0.07	-11.0547	10.1644	0.42871	0.9203:0.0:0.0797:0.0	.	450;131;655	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	655;131;450	ENSP00000256079:I655T;ENSP00000444520:I450T	ENSP00000256079:I655T	I	-	2	0	IPO8	30697278	1.000000	0.71417	0.987000	0.45799	0.801000	0.45260	8.988000	0.93501	0.790000	0.33803	0.533000	0.62120	ATT		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		59	252	0	0	0	1	0	59	252					G	30806011	A	G	30806011	3	3	79	1	0	0	0	0	1	0	0	0	7828	101	4	4	1181	4	IPO8	12	30806011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1096090	30806011	103045884	13159	23476											
IPO8	10526	broad.mit.edu	37	chr12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtgtggcttcatctgcTtccaggttatagaatgaacc	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000256079.4	-	9	1360	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	341					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCATCTGCTTCCAGGTTAT	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1021-1023)aAg>aCg		importin 8							147	147	147					12																	30823918		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30823918T>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1022A>C	12.37:g.30823918T>G	ENSP00000256079:p.Lys341Thr					IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	p.K341T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			9	1360	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		341					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1022A>C	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652669	0.67472	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.69175	-0.38;-0.38;-0.38	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048446	0.85682	D	0.000000	T	0.81380	0.4810	M	0.84948	2.725	0.51767	D	0.999938	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.984	T	0.81382	-0.0958	10	0.30078	T	0.28	-22.7694	13.3903	0.60821	0.0:0.0:0.0:1.0	.	136;341	B7Z7M3;O15397	.;IPO8_HUMAN	T	341;136;155	ENSP00000256079:K341T;ENSP00000444520:K136T;ENSP00000439556:K155T	ENSP00000256079:K341T	K	-	2	0	IPO8	30715185	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.751000	0.62169	1.811000	0.52892	0.477000	0.44152	AAG		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		116	480	0	0	0	1	0	116	480					G	30823918	T	G	30823918	3	3	79	1	0	0	0	0	1	0	0	0	7828	1609	56	4	2159	4	IPO8	12	30823918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17907	30823918	103027977	13160	23477											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatccagaagaagcctgatCggtagtaaccaagcaagcat	10	9	0	4	rs371879635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000298892.5	-	12	2845	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCCTGATCGGTAGTAACC	0.368																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2095-2097)Gat>Aat		caprin family member 2		C	ASN/ASP,ASN/ASP,ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	98	102	100		2095,2095,2095,	4.5	0.7	12		100	0,8600		0,0,4300	no	missense,missense,missense,intron	CAPRIN2	NM_001002259.1,NM_023925.3,NM_032156.3,NM_001206856.1	23,23,23,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	699/1128,699/1078,699/961,	30873798	1,13005	2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873798C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2095G>A	12.37:g.30873798C>T	ENSP00000298892:p.Asp699Asn					CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron	p.D699N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			12	2845	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		699						Missense_Mutation	SNP	ENST00000298892.5	37	c.2095G>A	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231118	0.79688	2.27E-4	0.0	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	1.99;2.0;1.99;1.99;1.99;1.99	5.35	4.46	0.54185	.	0.353866	0.30969	N	0.008504	T	0.31451	0.0797	L	0.47716	1.5	0.33215	D	0.553909	D;P;P;D	0.76494	0.999;0.926;0.947;0.984	P;B;B;P	0.56788	0.806;0.324;0.294;0.634	T	0.45425	-0.9262	10	0.51188	T	0.08	-6.765	11.2924	0.49258	0.0:0.9158:0.0:0.0842	.	699;699;699;699	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	445;699;699;366;699;618	ENSP00000415407:D445N;ENSP00000298892:D699N;ENSP00000251071:D699N;ENSP00000309785:D366N;ENSP00000391479:D699N;ENSP00000438010:D618N	ENSP00000251071:D699N	D	-	1	0	CAPRIN2	30765065	0.992000	0.36948	0.727000	0.30756	0.985000	0.73830	3.019000	0.49635	1.247000	0.43917	0.591000	0.81541	GAT		0.368	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		63	345	0	0	0	1	0	63	345					T	30873798	C	T	30873798	3	4	79	1	0	0	0	0	1	0	0	0	2643	884	31	1	1316	1	CAPRIN2	12	30873798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49880	30873798	102978097	13161	23478											
CAPRIN2	65981	broad.mit.edu	37	chr12	30878969	30878969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcctcaatactggAtccttcggaagggtagagga	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000395805.2	-	9	2383	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000251071.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000538387.1_5'Flank	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATACTGGATCCTTCGGAA	0.383																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1834-1836)gaT>gaC		caprin family member 2							97	91	93					12																	30878969		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30878969A>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1836T>C	12.37:g.30878969A>G						CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000395805.2_Silent_p.D612D	p.D612D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			9	2586	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		612						Silent	SNP	ENST00000395805.2	37	c.1836T>C	CCDS55816.1																																																																																				0.383	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		52	205	0	0	0	1	0	52	205					G	30878969	A	G	30878969	2	3	79	1	0	0	0	0	0	0	0	1	2643	330	12	4		4	CAPRIN2	12	30878969	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5171	30878969	102972926	13162	23479											
CAPRIN2	65981	broad.mit.edu	37	chr12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcgaaacccaatgatgCttgagatacttgtacttcca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000395805.2	-	1	569	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCAATGATGCTTGAGATACT	0.433											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(22-24)Gca>Aca		caprin family member 2							94	96	95					12																	30906676		2201	4293	6494	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30906676C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.22G>A	12.37:g.30906676C>T	ENSP00000379150:p.Ala8Thr		OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A8T	p.A8T	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			1	772	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		8						Missense_Mutation	SNP	ENST00000395805.2	37	c.22G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682559	0.47991	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73152	-0.72;2.76;-0.67;2.76	3.57	-0.709	0.11237	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.17228	-1.0376	8	.	.	.	4.8522	2.7491	0.05275	0.3397:0.342:0.0:0.3183	.	8;8;8;8	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	T	8	ENSP00000298892:A8T;ENSP00000379150:A8T;ENSP00000251071:A8T;ENSP00000391479:A8T	.	A	-	1	0	CAPRIN2	30797943	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.003000	0.12901	-0.274000	0.09232	0.655000	0.94253	GCA		0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		82	694	0	0	0	1	0	82	694					T	30906676	C	T	30906676	3	4	79	1	0	0	0	0	1	0	0	0	2643	797	28	2	3433	2	CAPRIN2	12	30906676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27707	30906676	102945219	13163	23480											
TSPAN11	441631	broad.mit.edu	37	chr12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagttcctggccgaccacCtgctgcttatgggggcagtg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	220						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(658-660)Ctg>Atg		tetraspanin 11							34	31	32					12																	31136041		2203	4300	6503	SO:0001583	missense	441631					integral to membrane		g.chr12:31136041C>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"Tetraspanins"	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.658C>A	12.37:g.31136041C>A	ENSP00000261177:p.Leu220Met					TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M	p.L220M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			7	717	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		220					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.658C>A	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433800	0.43224	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	3.32	2.42	0.29668	Tetraspanin, EC2 domain (1);	0.210787	0.30051	U	0.010522	D	0.86138	0.5861	M	0.75150	2.29	0.39744	D	0.971792	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83375	0.0009	10	0.30078	T	0.28	.	8.4767	0.33018	0.0:0.878:0.0:0.122	.	210;220	F5H0F0;A1L157	.;TSN11_HUMAN	M	220;149;210;220	ENSP00000437403:L220M;ENSP00000445503:L149M;ENSP00000439895:L210M;ENSP00000261177:L220M	ENSP00000261177:L220M	L	+	1	2	TSPAN11	31027308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.296000	0.59055	0.701000	0.31803	0.467000	0.42956	CTG		0.662	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		28	109	1	0	3.99451e-17	1	4.40333e-17	28	109					A	31136041	C	A	31136041	3	1	79	1	0	0	0	0	1	0	0	0	16688	680	24	3	680	3	TSPAN11	12	31136041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229365	31136041	102715854	13164	23481											
DDX11	1663	broad.mit.edu	37	chr12	31254899	31254899	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggtggcctgctgggccgtCtggctgccaggaagaaggtg	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31254899C>A	ENST00000407793.2	+	21	2436	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	DDX11_ENST00000542838.1_Missense_Mutation_p.L729M|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.L703M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	729					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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGGGCCGTCTGGCTGCCAG	0.637										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2185-2187)Ctg>Atg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							48	48	48					12																	31254899		1873	4066	5939	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31254899C>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2185C>A	12.37:g.31254899C>A	ENSP00000384703:p.Leu729Met	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.L729M	p.L729M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			21	2436	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		729					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2185C>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251045	0.22880	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.85	1.98	0.26296	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000001	D	0.94778	0.8314	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92802	0.6257	10	0.72032	D	0.01	.	7.095	0.25305	0.0:0.7656:0.0:0.2344	.	703;729;729	Q96FC9-3;Q96FC9;Q96FC9-2	.;DDX11_HUMAN;.	M	729;729;454;703;729	ENSP00000443426:L729M;ENSP00000384703:L729M;ENSP00000228264:L703M;ENSP00000440402:L729M	ENSP00000228264:L703M	L	+	1	2	DDX11	31146166	0.397000	0.25270	0.860000	0.33809	0.025000	0.11179	0.867000	0.27968	0.285000	0.22329	-0.199000	0.12753	CTG		0.637	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		12	169	1	0	0.00244969	1	0.00247089	12	169					A	31254899	C	A	31254899	3	1	79	1	0	0	0	0	1	0	0	0	4354	912	32	3	2263	3	DDX11	12	31254899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118858	31254899	102596996	13165	23482											
DDX11	1663	broad.mit.edu	37	chr12	31255888	31255888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgtggtgatggtgggCatgcccttccccaacatcag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G771G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2389-2391)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							63	61	62					12																	31255888		2203	4300	6503	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255888C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2391C>T	12.37:g.31255888C>T		Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_Silent_p.G797G	p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			24	2642	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		797					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.2391C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	DDX11	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		38	224	0	0	0	1	0	38	224					T	31255888	C	T	31255888	2	4	79	1	0	0	0	0	0	0	0	1	4354	697	25	2		2	DDX11	12	31255888	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	31255888	102596007	13166	23483											
DENND5B	160518	broad.mit.edu	37	chr12	31600696	31600696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggctggtcagacagaAaggaagcctgtaatgagata	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	ENST00000389082.5	-	6	1901	c.1637T>C	c.(1636-1638)tTt>tCt	p.F546S	DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S|DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	546	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAGACAGAAAGGAAGCCTG	0.378																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1636-1638)tTt>tCt		DENN/MADD domain containing 5B							39	40	40					12																	31600696		1887	4118	6005	SO:0001583	missense	160518					integral to membrane		g.chr12:31600696A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1637T>C	12.37:g.31600696A>G	ENSP00000373734:p.Phe546Ser					DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S	p.F546S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1901	-			546			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1637T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511423	0.85389	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.0	5.0	0.66597	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92000	0.5610	10	0.87932	D	0	-15.7777	14.853	0.70313	1.0:0.0:0.0:0.0	.	568;546;581	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	S	546;581;581;568	ENSP00000373734:F546S;ENSP00000306482:F581S;ENSP00000444889:F581S;ENSP00000346238:F568S	ENSP00000306482:F581S	F	-	2	0	DENND5B	31491963	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	TTT		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		12	42	0	0	0	1	0	12	42					G	31600696	A	G	31600696	3	3	79	1	0	0	0	0	1	0	0	0	4453	14	1	4	2251	4	DENND5B	12	31600696	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	344808	31600696	102251199	13167	23484											
C12orf35	55196	broad.mit.edu	37	chr12	32133908	32133908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaattggaatgaaaaaCcaaagagtgctacattacca	7	7	0	3	rs150927474	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32133908C>T	ENST00000312561.4	+	4	433	c.19C>T	c.(19-21)Cca>Tca	p.P7S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	7																	GAATGAAAAACCAAAGAGTGC	0.368																																						ENST00000312561.4																			0											c.(19-21)Cca>Tca		KIAA1551							84	74	78					12																	32133908		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32133908C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.19C>T	12.37:g.32133908C>T	ENSP00000310338:p.Pro7Ser					KIAA1551_ENST00000535596.1_Intron	p.P7S	NM_018169.3	NP_060639.3					4	433	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.19C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214232	0.58452	.	.	ENSG00000174718	ENST00000540924;ENST00000312561;ENST00000381054	T;T;T	0.22134	2.87;1.97;1.97	5.19	4.3	0.51218	.	0.381540	0.22476	N	0.059557	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	P	0.40731	0.728	B	0.42245	0.381	T	0.06625	-1.0816	10	0.66056	D	0.02	.	11.9815	0.53123	0.0:0.9179:0.0:0.0821	.	7	Q9HCM1	CL035_HUMAN	S	7	ENSP00000445152:P7S;ENSP00000310338:P7S;ENSP00000370442:P7S	ENSP00000310338:P7S	P	+	1	0	C12orf35	32025175	0.897000	0.30589	0.008000	0.14137	0.014000	0.08584	1.686000	0.37669	1.172000	0.42781	0.655000	0.94253	CCA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		55	294	0	0	0	1	0	55	294					T	32133908	C	T	32133908	3	4	79	1	0	0	0	0	1	0	0	0	1687	507	18	2	21	2	C12orf35	12	32133908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533212	32133908	101717987	13168	23485											
C12orf35	55196	broad.mit.edu	37	chr12	32137828	32137828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaataaaatgacagcatcTtatgaacaagcttctcagga	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32137828T>C	ENST00000312561.4	+	4	4353	c.3939T>C	c.(3937-3939)tcT>tcC	p.S1313S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1313																	TGACAGCATCTTATGAACAAG	0.348																																						ENST00000312561.4																			0											c.(3937-3939)tcT>tcC		KIAA1551							80	84	82					12																	32137828		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32137828T>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3939T>C	12.37:g.32137828T>C						KIAA1551_ENST00000535596.1_Intron	p.S1313S	NM_018169.3	NP_060639.3					4	4353	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.3939T>C	CCDS8725.2																																																																																				0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		88	369	0	0	0	1	0	88	369					C	32137828	T	C	32137828	2	2	79	1	0	0	0	0	0	0	0	1	1687	1596	56	4		4	C12orf35	12	32137828	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3920	32137828	101714067	13169	23486											
BICD1	636	broad.mit.edu	37	chr12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccttaatgccataatcCgggaccaaatcaagcatctg	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000281474.5	+	5	2000	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000548411.1_Missense_Mutation_p.R633W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	633					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1897-1899)Cgg>Tgg		bicaudal D homolog 1 (Drosophila)							141	142	142					12																	32481286		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481286C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1897C>T	12.37:g.32481286C>T	ENSP00000281474:p.Arg633Trp					BICD1_ENST00000281474.5_Missense_Mutation_p.R633W	p.R633W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2078	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		633					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1897C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921531	0.52653	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.2	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.78033	-0.2362	10	0.87932	D	0	.	14.9211	0.70838	0.233:0.767:0.0:0.0	.	633;633	F8W113;Q96G01	.;BICD1_HUMAN	W	633	ENSP00000446793:R633W;ENSP00000281474:R633W	ENSP00000281474:R633W	R	+	1	2	BICD1	32372553	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	0.460000	0.21924	2.415000	0.81967	0.655000	0.94253	CGG		0.483	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		120	494	0	0	0	1	0	120	494					T	32481286	C	T	32481286	3	4	79	1	0	0	0	0	1	0	0	0	1430	643	23	1	1915	1	BICD1	12	32481286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343458	32481286	101370609	13170	23487											
BICD1	636	broad.mit.edu	37	chr12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttccagatgtgatgaaTatgtcacccagttggatgag	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000281474.5	+	7	2366	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000548411.1_Missense_Mutation_p.Y755H	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	755	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGTGATGAATATGTCACCCA	0.403																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2263-2265)Tat>Cat		bicaudal D homolog 1 (Drosophila)							91	86	88					12																	32490443		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32490443T>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2263T>C	12.37:g.32490443T>C	ENSP00000281474:p.Tyr755His					BICD1_ENST00000281474.5_Missense_Mutation_p.Y755H	p.Y755H	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		7	2444	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		755			Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2263T>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631919	0.67015	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.78123	0.4234	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.79431	-0.1806	10	0.31617	T	0.26	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	755;755	F8W113;Q96G01	.;BICD1_HUMAN	H	755	ENSP00000446793:Y755H;ENSP00000281474:Y755H	ENSP00000281474:Y755H	Y	+	1	0	BICD1	32381710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.600000	0.82769	1.968000	0.57251	0.482000	0.46254	TAT		0.403	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		85	345	0	0	0	1	0	85	345					C	32490443	T	C	32490443	3	2	79	1	0	0	0	0	1	0	0	0	1430	1406	49	4	2289	4	BICD1	12	32490443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9157	32490443	101361452	13171	23488											
FGD4	121512	broad.mit.edu	37	chr12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttcaacaacatgttgCtgtactgtgtgcccaaattc	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000427716.2	+	11	1778	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	452	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1354-1356)Ctg>Atg		FYVE, RhoGEF and PH domain containing 4							125	117	120					12																	32772647		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772647C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1354C>A	12.37:g.32772647C>A	ENSP00000394487:p.Leu452Met					FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M	p.L452M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			11	1778	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		452			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1354C>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294195	0.60086	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-1.65	5.67	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41294	D	0.000909	D	0.95532	0.8548	M	0.89414	3.03	0.43657	D	0.99607	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.996	D	0.95778	0.8814	10	0.87932	D	0	-10.4131	11.6996	0.51562	0.0:0.8583:0.0:0.1417	.	564;537;452;204	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	M	589;537;452;204;359;564;204	ENSP00000449273:L589M;ENSP00000431323:L537M;ENSP00000394487:L452M;ENSP00000266482:L204M;ENSP00000446695:L359M;ENSP00000433666:L564M;ENSP00000370413:L204M	ENSP00000266482:L204M	L	+	1	2	FGD4	32663914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.385000	0.46445	0.655000	0.94253	CTG		0.393	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		106	440	1	0	4.4634e-40	1	5.40684e-40	106	440					A	32772647	C	A	32772647	3	1	79	1	0	0	0	0	1	0	0	0	5860	796	28	3	1388	3	FGD4	12	32772647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282204	32772647	101079248	13172	23489											
FGD4	121512	broad.mit.edu	37	chr12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agactcaaaatgaagaatatCcacatactttccaggtgtct	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000427716.2	+	11	1883	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	487	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1459-1461)Cca>Aca		FYVE, RhoGEF and PH domain containing 4							116	111	113					12																	32772752		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772752C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1459C>A	12.37:g.32772752C>A	ENSP00000394487:p.Pro487Thr					FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T	p.P487T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			11	1883	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		487			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1459C>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000131	D	0.94466	0.8219	M	0.75264	2.295	0.80722	D	1	B;P;D;D	0.89917	0.41;0.616;1.0;1.0	P;P;D;D	0.85130	0.579;0.579;0.997;0.995	D	0.94264	0.7505	10	0.56958	D	0.05	-14.0	19.5071	0.95124	0.0:1.0:0.0:0.0	.	599;572;487;239	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	T	624;572;487;239;394;599;239	ENSP00000449273:P624T;ENSP00000431323:P572T;ENSP00000394487:P487T;ENSP00000266482:P239T;ENSP00000446695:P394T;ENSP00000433666:P599T;ENSP00000370413:P239T	ENSP00000266482:P239T	P	+	1	0	FGD4	32664019	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.251000	0.78297	2.590000	0.87494	0.655000	0.94253	CCA		0.438	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		91	362	1	0	1.51503e-27	1	1.75539e-27	91	362					A	32772752	C	A	32772752	3	1	79	1	0	0	0	0	1	0	0	0	5860	855	30	3	1493	3	FGD4	12	32772752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	32772752	101079143	13173	23490											
FGD4	121512	broad.mit.edu	37	chr12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagccccaagatggatcCgagataatgaagtgacaatg	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1672-1674)Cga>Tga		FYVE, RhoGEF and PH domain containing 4							100	96	97					12																	32778624		2203	4300	6503	SO:0001587	stop_gained	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778624C>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1672C>T	12.37:g.32778624C>T	ENSP00000394487:p.Arg558*					FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*	p.R558*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2096	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		558					Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	37	c.1672C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	FGD4	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA		0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		79	338	0	0	0	1	0	79	338					T	32778624	C	T	32778624	4	4	79	1	0	0	0	0	0	1	0	0	5860	644	23	1	1718	1	FGD4	12	32778624	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5872	32778624	101073271	13174	23491											
DNM1L	10059	broad.mit.edu	37	chr12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagttgaagtggtgacttGtcttcttcgtaaaaggttgc	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000549701.1	+	12	1483	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000452533.2_Missense_Mutation_p.C470Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	470	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGGTGACTTGTCTTCTTCGT	0.313																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1408-1410)tGt>tAt		dynamin 1-like							171	152	158					12																	32884840		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884840G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1409G>A	12.37:g.32884840G>A	ENSP00000450399:p.Cys470Tyr					DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000549701.1_Missense_Mutation_p.C470Y	p.C470Y	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			12	1573	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		470			Interaction with GSK3B.|Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1409G>A	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843653	0.51164	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	Dynamin central domain (1);	0.152770	0.64402	D	0.000010	T	0.63628	0.2527	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.55172	0.97;0.089;0.089;0.122;0.089;0.037	P;B;B;B;B;B	0.51229	0.663;0.041;0.266;0.033;0.041;0.18	T	0.72597	-0.4245	10	0.66056	D	0.02	.	18.6016	0.91249	0.0:0.0:1.0:0.0	.	267;523;523;536;523;470	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	Y	470;536;470;483;470;483;470;470;267;483	ENSP00000415131:C470Y;ENSP00000449089:C483Y;ENSP00000450399:C470Y;ENSP00000350948:C483Y;ENSP00000266481:C470Y;ENSP00000448610:C470Y;ENSP00000404160:C267Y;ENSP00000370388:C483Y	ENSP00000266479:C470Y	C	+	2	0	DNM1L	32776107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.468000	0.83385	0.655000	0.94253	TGT		0.313	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		56	281	0	0	0	1	0	56	281					A	32884840	G	A	32884840	3	1	79	1	0	0	0	0	1	0	0	0	4687	1377	48	2	1455	2	DNM1L	12	32884840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106216	32884840	100967055	13175	23492											
DNM1L	10059	broad.mit.edu	37	chr12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattggatgatcttctgacaGaatctgaggacatggcacag	11	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000549701.1	+	19	2178	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E676*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	702	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTGACAGAATCTGAGGA	0.393																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(2026-2028)Gaa>Taa		dynamin 1-like							152	150	151					12																	32895632		2203	4300	6503	SO:0001587	stop_gained	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32895632G>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.2104G>T	12.37:g.32895632G>T	ENSP00000450399:p.Glu702*					DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.E702*	p.E676*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			18	2190	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		702			GED.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	c.2026G>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961801	0.97967	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	5.52	5.52	0.82312	.	0.119189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6304	0.88104	0.0:0.0:1.0:0.0	.	.	.	.	X	676;757;715;702;678;665;691;499;704	.	ENSP00000266481:E665X	E	+	1	0	DNM1L	32786899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.607000	0.98328	2.582000	0.87167	0.585000	0.79938	GAA		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		42	436	1	0	1.8453e-21	1	2.07902e-21	42	436					T	32895632	G	T	32895632	4	4	79	1	0	0	0	0	0	1	0	0	4687	943	33	3	2178	3	DNM1L	12	32895632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10792	32895632	100956263	13176	23493											
PKP2	5318	broad.mit.edu	37	chr12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatttagttcagccacctcCaatttgttgtcattgtcttc	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000070846.6	-	5	1317	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000340811.4_Missense_Mutation_p.L431F	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	431					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCCACCTCCAATTTGTTGT	0.448																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1291-1293)ttG>ttT		plakophilin 2							129	127	127					12																	33003785		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33003785C>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1293G>T	12.37:g.33003785C>A	ENSP00000070846:p.Leu431Phe					PKP2_ENST00000070846.6_Missense_Mutation_p.L431F	p.L431F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			5	1401	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		431					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1293G>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809063	0.70797	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69685	-0.42;0.75	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.204716	0.42682	D	0.000676	T	0.78916	0.4359	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.995	D;D;P	0.68483	0.929;0.958;0.894	T	0.80867	-0.1190	10	0.62326	D	0.03	-6.8743	13.0312	0.58842	0.1612:0.8388:0.0:0.0	.	431;431;431	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	431	ENSP00000342800:L431F;ENSP00000070846:L431F	ENSP00000070846:L431F	L	-	3	2	PKP2	32895052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	2.319000	0.78375	0.462000	0.41574	TTG		0.448	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		96	364	1	0	1.16068e-44	1	1.42057e-44	96	364					A	33003785	C	A	33003785	3	1	79	1	0	0	0	0	1	0	0	0	12027	593	21	3	1392	3	PKP2	12	33003785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108153	33003785	100848110	13177	23494											
PKP2	5318	broad.mit.edu	37	chr12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtatgtgtcaaagtggCgctgcctgcttgtggtgcca	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000070846.6	-	3	659	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000340811.4_Missense_Mutation_p.R212H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	212					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAAAGTGGCGCTGCCTGCT	0.612																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(634-636)cGc>cAc		plakophilin 2							138	117	124					12																	33031179		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031179C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.635G>A	12.37:g.33031179C>T	ENSP00000070846:p.Arg212His					PKP2_ENST00000070846.6_Missense_Mutation_p.R212H	p.R212H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	743	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		212					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.635G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798607	0.50208	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81996	-1.56;-1.55	5.34	2.29	0.28610	.	1.149450	0.06307	N	0.701990	T	0.78020	0.4218	L	0.46157	1.445	0.09310	N	1	P;P;P	0.52316	0.951;0.918;0.952	B;B;B	0.43052	0.31;0.164;0.406	T	0.66889	-0.5809	10	0.45353	T	0.12	-7.5805	5.7619	0.18205	0.0:0.6201:0.1447:0.2352	.	212;212;212	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	212	ENSP00000342800:R212H;ENSP00000070846:R212H	ENSP00000070846:R212H	R	-	2	0	PKP2	32922446	0.958000	0.32768	0.860000	0.33809	0.943000	0.58893	0.783000	0.26802	1.272000	0.44329	0.650000	0.86243	CGC		0.612	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		63	304	0	0	0	1	0	63	304					T	33031179	C	T	33031179	3	4	79	1	0	0	0	0	1	0	0	0	12027	768	27	1	2058	1	PKP2	12	33031179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27394	33031179	100820716	13178	23495											
SYT10	341359	broad.mit.edu	37	chr12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttttcctatctggaagaaGatacatcttcacataagggt	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	SYT10_ENST00000535526.1_Missense_Mutation_p.L94I|RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	275	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(823-825)Ctt>Att		synaptotagmin X							66	66	66					12																	33559978		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33559978G>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.823C>A	12.37:g.33559978G>T	ENSP00000228567:p.Leu275Ile					SYT10_ENST00000535526.1_Missense_Mutation_p.L94I	p.L275I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			3	1119	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		275			C2 1.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.823C>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286843	0.80803	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71579	-0.58;-0.58	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	U	0.002390	T	0.80341	0.4605	L	0.46741	1.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.79750	-0.1672	10	0.46703	T	0.11	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	275	Q6XYQ8	SYT10_HUMAN	I	275;94	ENSP00000228567:L275I;ENSP00000438691:L94I	ENSP00000228567:L275I	L	-	1	0	SYT10	33451245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.665000	0.90641	0.563000	0.77884	CTT		0.343	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		44	201	1	0	1.06522e-23	1	1.21267e-23	44	201					T	33559978	G	T	33559978	3	4	79	1	0	0	0	0	1	0	0	0	15518	942	33	3	768	3	SYT10	12	33559978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	528799	33559978	100291917	13179	23496											
SYT10	341359	broad.mit.edu	37	chr12	33579114	33579114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttgtctttgcacacgTgcatgtttaattaaatgttc	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	156					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(466-468)gcA>gcG		synaptotagmin X							189	196	193					12																	33579114		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579114T>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.468A>G	12.37:g.33579114T>C						SYT10_ENST00000535526.1_5'UTR	p.A156A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	764	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		156					Q495U2	Silent	SNP	ENST00000228567.3	37	c.468A>G	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		225	977	0	0	0	1	0	225	977					C	33579114	T	C	33579114	2	2	79	1	0	0	0	0	0	0	0	1	15518	1683	59	4		4	SYT10	12	33579114	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19136	33579114	100272781	13180	23497											
ALG10	84920	broad.mit.edu	37	chr12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttgcgtatttgatgTgtctttatggaaatcataaa	7	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	167					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(499-501)Tgt>Cgt		ALG10, alpha-1,2-glucosyltransferase							197	202	200					12																	34178927		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34178927T>C	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.499T>C	12.37:g.34178927T>C	ENSP00000266483:p.Cys167Arg					ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.C167R	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	818	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	167					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.499T>C	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145830	0.37923	.	.	ENSG00000139133	ENST00000266483	T	0.56275	0.47	3.13	3.13	0.36017	.	0.145631	0.64402	D	0.000005	T	0.57932	0.2087	M	0.80847	2.515	0.80722	D	1	P	0.49961	0.93	P	0.48982	0.597	T	0.57740	-0.7759	10	0.23302	T	0.38	.	9.6518	0.39902	0.0:0.0:0.0:1.0	.	167	Q5BKT4	AG10A_HUMAN	R	167	ENSP00000266483:C167R	ENSP00000266483:C167R	C	+	1	0	ALG10	34070194	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.762000	0.55250	1.223000	0.43536	0.155000	0.16302	TGT		0.338	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		201	938	0	0	0	1	0	201	938					C	34178927	T	C	34178927	3	2	79	1	0	0	0	0	1	0	0	0	511	1696	59	4	509	4	ALG10	12	34178927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	599813	34178927	99672968	13181	23498											
ALG10B	144245	broad.mit.edu	37	chr12	38710827	38710827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcttccacctgcctcaGgcgcagcgctactgtgaggg	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	44					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)			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)				ACCTGCCTCAGGCGCAGCGCT	0.632																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(130-132)caG>caA		ALG10B, alpha-1,2-glucosyltransferase							147	155	152					12																	38710827		2203	4300	6503	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.chr12:38710827G>A	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.132G>A	12.37:g.38710827G>A						ALG10B_ENST00000551464.1_Silent_p.Q44Q	p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			1	448	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	44					B2RPF4	Silent	SNP	ENST00000308742.4	37	c.132G>A	CCDS31772.1																																																																																				0.632	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		217	1018	0	0	0	1	0	217	1018					A	38710827	G	A	38710827	2	1	79	1	0	0	0	0	0	0	0	1	512	991	35	2		2	ALG10B	12	38710827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4531900	38710827	95141068	13182	23499											
ALG10B	144245	broad.mit.edu	37	chr12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactctgcctcccacatccaGacttgtttgtgaactgagtt	7	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	436					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)			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)				CCCACATCCAGACTTGTTTGT	0.348																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1306-1308)aGa>aAa		ALG10B, alpha-1,2-glucosyltransferase							190	187	188					12																	38714900		2203	4299	6502	SO:0001583	missense	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.chr12:38714900G>A	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.1307G>A	12.37:g.38714900G>A	ENSP00000310120:p.Arg436Lys					ALG10B_ENST00000551464.1_Intron	p.R436K	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1623	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	436					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1307G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336137	0.01287	.	.	ENSG00000175548	ENST00000308742	T	0.30981	1.51	3.49	1.67	0.24075	.	0.226336	0.50627	N	0.000102	T	0.15349	0.0370	N	0.21583	0.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	.	5.535	0.17005	0.3517:0.0:0.6483:0.0	.	436	Q5I7T1	AG10B_HUMAN	K	436	ENSP00000310120:R436K	ENSP00000310120:R436K	R	+	2	0	ALG10B	37001167	0.962000	0.33011	0.782000	0.31804	0.057000	0.15508	2.340000	0.43974	0.487000	0.27698	0.655000	0.94253	AGA		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		155	691	0	0	0	1	0	155	691					A	38714900	G	A	38714900	3	1	79	1	0	0	0	0	1	0	0	0	512	942	33	2	1317	2	ALG10B	12	38714900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4073	38714900	95136995	13183	23500											
KIF21A	55605	broad.mit.edu	37	chr12	39711958	39711958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggggccggcttggtggGgaagaaggaggtgaaagact	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000361418.5	-	29	3840	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000395670.3_Silent_p.S1275S|KIF21A_ENST00000541463.2_Silent_p.S1239S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1275					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCTTGGTGGGGAAGAAGGAG	0.398																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3823-3825)tcC>tcT		kinesin family member 21A							75	81	79					12																	39711958		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39711958G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3825C>T	12.37:g.39711958G>A						KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000361418.5_Silent_p.S1275S|KIF21A_ENST00000361961.3_Silent_p.S1262S	p.S1275S			Q7Z4S6	KI21A_HUMAN			28	4244	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1275					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3825C>T	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		43	298	0	0	0	1	0	43	298					A	39711958	G	A	39711958	2	1	79	1	0	0	0	0	0	0	0	1	8318	1219	43	2		2	KIF21A	12	39711958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	997058	39711958	94139937	13184	23501											
KIF21A	55605	broad.mit.edu	37	chr12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttctccttgttacaggaGaaggctctggaatttttttt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000361418.5	-	28	3731	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1239					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTACAGGAGAAGGCTCTGG	0.338																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3715-3717)tCt>tAt		kinesin family member 21A							107	93	98					12																	39713771		2201	4300	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713771G>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3716C>A	12.37:g.39713771G>T	ENSP00000354878:p.Ser1239Tyr					KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1239Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y	p.S1239Y			Q7Z4S6	KI21A_HUMAN			27	4135	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1239					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3716C>A	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.771470|4.771470	0.90108|0.90108	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73363	.|-0.66;-0.67;0.1;-0.74;-0.56;-0.73	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.49916	.|D	.|0.000138	D|D	0.86826|0.86826	0.6026|0.6026	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;D;D;D	.|0.89917	.|0.946;0.978;0.952;0.978;1.0;1.0	.|P;P;P;P;D;D	.|0.78314	.|0.735;0.804;0.781;0.804;0.991;0.989	D|D	0.87375|0.87375	0.2353|0.2353	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;1203;1239;1226;1239;286	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|Y	587|1226;1239;1239;286;280;1219;1239;1203	.|ENSP00000354851:S1226Y;ENSP00000379029:S1239Y;ENSP00000448792:S280Y;ENSP00000445606:S1219Y;ENSP00000354878:S1239Y;ENSP00000438075:S1203Y	.|ENSP00000344501:S1239Y	L|S	-|-	1|2	0|0	KIF21A|KIF21A	38000038|38000038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.318000|8.318000	0.89990|0.89990	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		13	59	1	0	0.000151284	1	0.000153739	13	59					T	39713771	G	T	39713771	3	4	79	1	0	0	0	0	1	0	0	0	8318	942	33	3	1352	3	KIF21A	12	39713771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1813	39713771	94138124	13185	23502											
ABCD2	225	broad.mit.edu	37	chr12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctccgtaagagattggTcagggtttgccagcctccca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	207	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(619-621)gAc>gGc		ATP-binding cassette, sub-family D (ALD), member 2							117	110	112					12																	40012798		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012798T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.620A>G	12.37:g.40012798T>C	ENSP00000310688:p.Asp207Gly						p.D207G	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	755	-			207			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.620A>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729406	0.69074	.	.	ENSG00000173208	ENST00000308666	D	0.99874	-7.39	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96107	0.9074	9	.	.	.	-9.2221	14.6449	0.68754	0.0:0.0:0.0:1.0	.	207	Q9UBJ2	ABCD2_HUMAN	G	207	ENSP00000310688:D207G	.	D	-	2	0	ABCD2	38299065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.517000	0.81783	1.849000	0.53698	0.455000	0.32223	GAC		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		129	491	0	0	0	1	0	129	491					C	40012798	T	C	40012798	3	2	79	1	0	0	0	0	1	0	0	0	61	1667	58	4	1642	4	ABCD2	12	40012798	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	299027	40012798	93839097	13186	23503											
C12orf40	283461	broad.mit.edu	37	chr12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcagtccatcacataAaactacacgatttgggacat	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	216										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CCATCACATAAAACTACACGA	0.318																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(646-648)aAa>aCa		chromosome 12 open reading frame 40							75	69	71					12																	40044117		1811	4070	5881	SO:0001583	missense	283461							g.chr12:40044117A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.647A>C	12.37:g.40044117A>C	ENSP00000317671:p.Lys216Thr					C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	p.K216T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			7	801	+			216					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.647A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	7.345	0.621738	0.14193	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.34	0.29019	.	1.135250	0.06734	N	0.777242	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.27331	-1.0077	10	0.62326	D	0.03	.	7.0939	0.25299	0.7708:0.2292:0.0:0.0	.	216	Q86WS4	CL040_HUMAN	T	216;139;216	ENSP00000383897:K216T;ENSP00000317671:K216T	ENSP00000317671:K216T	K	+	2	0	C12orf40	38330384	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.391000	0.20784	0.688000	0.31529	0.528000	0.53228	AAA		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		17	72	0	0	0	1	0	17	72					C	40044117	A	C	40044117	3	2	79	1	0	0	0	0	1	0	0	0	1691	14	1	4	673	4	C12orf40	12	40044117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31319	40044117	93807778	13187	23504											
SLC2A13	114134	broad.mit.edu	37	chr12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatatacctgccccaggctgCctcatttgtagatgctttat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1432-1434)Gca>Tca		solute carrier family 2 (facilitated glucose transporter), member 13							103	98	100					12																	40223918		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40223918C>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1432G>T	12.37:g.40223918C>A	ENSP00000280871:p.Ala478Ser	HNSCC(50;0.14)					p.A478S	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			7	1482	-		Lung NSC(34;0.105)|all_lung(34;0.123)	478					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1432G>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430936	0.25726	.	.	ENSG00000151229	ENST00000280871	T	0.81415	-1.49	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	N	0.000010	T	0.71417	0.3337	L	0.38175	1.15	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.66380	-0.5938	10	0.02654	T	1	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	S	478	ENSP00000280871:A478S	ENSP00000280871:A478S	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA		0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			45	201	1	0	5.73435e-26	1	6.59582e-26	45	201					A	40223918	C	A	40223918	3	1	79	1	0	0	0	0	1	0	0	0	14592	739	26	3	530	3	SLC2A13	12	40223918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179801	40223918	93627977	13188	23505											
SLC2A13	114134	broad.mit.edu	37	chr12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccgcagccagcaccgCggagccggcggtgaagaggg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	163					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCAGCACCGCGGAGCCGGCG	0.741										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(487-489)Gcg>Acg		solute carrier family 2 (facilitated glucose transporter), member 13							7	9	8					12																	40499124		2136	4185	6321	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499124C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.487G>A	12.37:g.40499124C>T	ENSP00000280871:p.Ala163Thr	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			1	537	-		Lung NSC(34;0.105)|all_lung(34;0.123)	163					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.487G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419577	0.62622	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.60299	0.2;0.2	3.5	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.623406	0.15357	N	0.266630	T	0.45816	0.1361	L	0.39467	1.215	0.29254	N	0.871781	P;P	0.47545	0.539;0.897	B;B	0.40444	0.329;0.329	T	0.43653	-0.9378	10	0.66056	D	0.02	-0.7911	9.3766	0.38286	0.0:0.8243:0.0:0.1757	.	163;163	Q96QE2;E9PE47	MYCT_HUMAN;.	T	163	ENSP00000280871:A163T;ENSP00000370239:A163T	ENSP00000280871:A163T	A	-	1	0	SLC2A13	38785391	0.868000	0.29978	0.962000	0.40283	0.910000	0.53928	0.216000	0.17585	0.202000	0.20498	0.462000	0.41574	GCG		0.741	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			13	62	0	0	0	1	0	13	62					T	40499124	C	T	40499124	3	4	79	1	0	0	0	0	1	0	0	0	14592	768	27	1	1499	1	SLC2A13	12	40499124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275206	40499124	93352771	13189	23506											
LRRK2	120892	broad.mit.edu	37	chr12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatattgtggtggaagctAtgaaagcattccctatgagt	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					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.M257V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGGAAGCTATGAAAGCATT	0.363																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.M257V(2)	lung(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(769-771)Atg>Gtg		leucine-rich repeat kinase 2							191	177	182					12																	40637414		2203	4300	6503	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.chr12:40637414A>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.769A>G	12.37:g.40637414A>G	ENSP00000298910:p.Met257Val					LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	p.M257V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			7	827	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	257					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.769A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	LRRK2	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		22	562	0	0	0	1	0	22	562					G	40637414	A	G	40637414	3	3	79	1	0	0	0	0	1	0	0	0	9071	449	16	4	795	4	LRRK2	12	40637414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138290	40637414	93214481	13190	23507											
LRRK2	120892	broad.mit.edu	37	chr12	40653291	40653291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccccagcaacacttcCctggatataatggcagcagt	7	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	476					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)			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)				GCAACACTTCCCTGGATATAA	0.418																																						ENST00000298910.7																			0				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						c.(1426-1428)tcC>tcT		leucine-rich repeat kinase 2							96	94	95					12																	40653291		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653291C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1428C>T	12.37:g.40653291C>T						LRRK2_ENST00000343742.2_Silent_p.S476S	p.S476S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	476					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.1428C>T	CCDS31774.1																																																																																				0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		41	434	0	0	0	1	0	41	434					T	40653291	C	T	40653291	2	4	79	1	0	0	0	0	0	0	0	1	9071	610	22	2		2	LRRK2	12	40653291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15877	40653291	93198604	13191	23508											
LRRK2	120892	broad.mit.edu	37	chr12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcatccctatcagagaActttcttgaggcttgtccta	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1147					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)			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)				CTATCAGAGAACTTTCTTGAG	0.418																																						ENST00000298910.7																			0				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						c.(3439-3441)aAc>aGc		leucine-rich repeat kinase 2							179	193	188					12																	40693003		2203	4300	6503	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.chr12:40693003A>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.3440A>G	12.37:g.40693003A>G	ENSP00000298910:p.Asn1147Ser					LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	p.N1147S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			25	3498	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1147					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3440A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523245	0.44866	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71341	2.3;-0.56	5.29	4.15	0.48705	.	0.429907	0.26297	N	0.025193	T	0.58977	0.2160	L	0.43152	1.355	0.29182	N	0.876412	B;B	0.24675	0.006;0.109	B;B	0.27170	0.008;0.077	T	0.48293	-0.9048	10	0.09338	T	0.73	.	10.7437	0.46168	0.9253:0.0:0.0747:0.0	.	1147;1147	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1147	ENSP00000341930:N1147S;ENSP00000298910:N1147S	ENSP00000298910:N1147S	N	+	2	0	LRRK2	38979270	1.000000	0.71417	0.637000	0.29366	0.990000	0.78478	5.691000	0.68249	0.846000	0.35142	0.402000	0.26972	AAC		0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		151	618	0	0	0	1	0	151	618					G	40693003	A	G	40693003	3	3	79	1	0	0	0	0	1	0	0	0	9071	43	2	4	3538	4	LRRK2	12	40693003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39712	40693003	93158892	13192	23509											
LRRK2	120892	broad.mit.edu	37	chr12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtacctaccaggtcccGcacactggaaatctttgaac	7	13	2	1	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1215					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)			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)				ACCAGGTCCCGCACACTGGAA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18544	0.0		0.001	False		,,,				2504	0.0					ENST00000298910.7																			0				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						c.(3643-3645)Gca>Aca		leucine-rich repeat kinase 2		G	THR/ALA	0,4406		0,0,2203	94	95	94		3643	3.5	0.9	12	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LRRK2	NM_198578.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	1215/2528	40697802	4,13002	2203	4300	6503	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.chr12:40697802G>A	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.3643G>A	12.37:g.40697802G>A	ENSP00000298910:p.Ala1215Thr					LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	p.A1215T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			27	3701	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1215					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3643G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071280	0.36566	0.0	4.65E-4	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72505	0.2;-0.66	5.37	3.51	0.40186	.	0.410140	0.26116	N	0.026250	T	0.42854	0.1221	N	0.17723	0.515	0.09310	N	1	P;B;P	0.38535	0.635;0.384;0.635	B;B;B	0.27380	0.079;0.038;0.079	T	0.28744	-1.0034	10	0.30854	T	0.27	.	2.0332	0.03534	0.1515:0.1347:0.4361:0.2777	.	1215;1215;1215	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1215	ENSP00000341930:A1215T;ENSP00000298910:A1215T	ENSP00000298910:A1215T	A	+	1	0	LRRK2	38984069	0.000000	0.05858	0.892000	0.35008	0.973000	0.67179	0.349000	0.20055	0.726000	0.32339	0.557000	0.71058	GCA		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		78	305	0	0	0	1	0	78	305					A	40697802	G	A	40697802	3	1	79	1	0	0	0	0	1	0	0	0	9071	1087	38	1	3749	1	LRRK2	12	40697802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4799	40697802	93154093	13193	23510											
LRRK2	120892	broad.mit.edu	37	chr12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggaactcctgaataagcGagggttccctgccatacgag	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1477	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				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)			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)				CTGAATAAGCGAGGGTTCCCT	0.453																																						ENST00000298910.7																			0				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						c.(4429-4431)cGa>cAa		leucine-rich repeat kinase 2							185	179	181					12																	40704345		2203	4300	6503	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.chr12:40704345G>A	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.4430G>A	12.37:g.40704345G>A	ENSP00000298910:p.Arg1477Gln						p.R1477Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4488	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1477			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4430G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525058	0.44969	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.53	5.53	0.82687	ROC GTPase (1);	0.147080	0.47455	D	0.000223	T	0.63616	0.2526	L	0.29908	0.895	0.29304	N	0.868489	B;P	0.35908	0.338;0.527	B;B	0.15484	0.009;0.013	T	0.59247	-0.7490	10	0.13470	T	0.59	.	12.7605	0.57361	0.075:0.0:0.925:0.0	.	1477;1477	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1477	ENSP00000298910:R1477Q	ENSP00000298910:R1477Q	R	+	2	0	LRRK2	38990612	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.642000	0.61383	2.597000	0.87782	0.650000	0.86243	CGA		0.453	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		149	715	0	0	0	1	0	149	715					A	40704345	G	A	40704345	3	1	79	1	0	0	0	0	1	0	0	0	9071	1058	37	1	4552	1	LRRK2	12	40704345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6543	40704345	93147550	13194	23511											
CNTN1	1272	broad.mit.edu	37	chr12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttcatggagtaaagggAcagagtggcttgtcaatagc	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	452	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1354-1356)Aca>Gca		contactin 1							74	74	74					12																	41333262		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333262A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1354A>G	12.37:g.41333262A>G	ENSP00000447006:p.Thr452Ala					CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A	p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			12	1471	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	452			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1354A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244033	0.39697	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33189	0.99	0.46167	D	0.998905	B;P;P	0.45396	0.184;0.828;0.857	B;P;P	0.48982	0.101;0.462;0.597	T	0.02966	-1.1088	10	0.08837	T	0.75	.	10.6344	0.45556	0.9235:0.0:0.0765:0.0	.	452;441;452	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	452;452;452;452;452;441	ENSP00000448004:T452A;ENSP00000447006:T452A;ENSP00000448653:T452A;ENSP00000325660:T452A;ENSP00000353213:T452A;ENSP00000261160:T441A	ENSP00000325660:T452A	T	+	1	0	CNTN1	39619529	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	5.584000	0.67490	2.172000	0.68678	0.459000	0.35465	ACA		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		45	204	0	0	0	1	0	45	204					G	41333262	A	G	41333262	3	3	79	1	0	0	0	0	1	0	0	0	3649	275	10	4	1396	4	CNTN1	12	41333262	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	628917	41333262	92518633	13195	23512											
CNTN1	1272	broad.mit.edu	37	chr12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaggagagcccagtataCcatctaacagaattaaaaca	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	695	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCAGTATACCATCTAACAG	0.393																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2083-2085)Cca>Tca		contactin 1							81	81	81					12																	41387041		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41387041C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2083C>T	12.37:g.41387041C>T	ENSP00000447006:p.Pro695Ser					CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S|CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S	p.P695S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			17	2200	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	695			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2083C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047596	0.75846	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55234	0.53;0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75628	-0.3252	10	0.72032	D	0.01	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	684;695	Q12860-2;Q12860	.;CNTN1_HUMAN	S	695;695;684	ENSP00000447006:P695S;ENSP00000325660:P695S;ENSP00000261160:P684S	ENSP00000325660:P695S	P	+	1	0	CNTN1	39673308	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.471000	0.66762	2.576000	0.86940	0.555000	0.69702	CCA		0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		37	209	0	0	0	1	0	37	209					T	41387041	C	T	41387041	3	4	79	1	0	0	0	0	1	0	0	0	3649	507	18	2	2145	2	CNTN1	12	41387041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53779	41387041	92464854	13196	23513											
CNTN1	1272	broad.mit.edu	37	chr12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactaatcctgatactggcCgatatgtccataaagatgaa	7	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGATACTGGCCGATATGTCCA	0.403																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2296-2298)Cga>Tga		contactin 1							136	117	123					12																	41410595		2203	4300	6503	SO:0001587	stop_gained	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410595C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2296C>T	12.37:g.41410595C>T	ENSP00000447006:p.Arg766*					CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000550305.1_3'UTR	p.R766*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			19	2413	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	766			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	c.2296C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832891	0.97003	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	.	.	.	5.35	-2.88	0.05682	.	0.113585	0.64402	D	0.000013	.	.	.	.	.	.	0.22911	N	0.998577	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8613	0.52467	0.5695:0.3721:0.0:0.0583	.	.	.	.	X	766;766;755	.	ENSP00000325660:R766X	R	+	1	2	CNTN1	39696862	0.819000	0.29175	0.027000	0.17364	0.453000	0.32348	1.290000	0.33319	-0.637000	0.05516	-0.262000	0.10625	CGA		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		84	360	0	0	0	1	0	84	360					T	41410595	C	T	41410595	4	4	79	1	0	0	0	0	0	1	0	0	3649	644	23	1	2366	1	CNTN1	12	41410595	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23554	41410595	92441300	13197	23514											
CNTN1	1272	broad.mit.edu	37	chr12	41414236	41414236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaaaaatagtggaaagCtatcaggtacgttaaatttt	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	839	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGTGGAAAGCTATCAGGTAC	0.313																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2515-2517)agC>agT		contactin 1							43	46	45					12																	41414236		2203	4293	6496	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41414236C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2517C>T	12.37:g.41414236C>T						CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000550305.1_3'UTR	p.S839S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			20	2634	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	839			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2517C>T	CCDS8737.1																																																																																				0.313	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		31	151	0	0	0	1	0	31	151					T	41414236	C	T	41414236	2	4	79	1	0	0	0	0	0	0	0	1	3649	796	28	2		2	CNTN1	12	41414236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3641	41414236	92437659	13198	23515											
PDZRN4	29951	broad.mit.edu	37	chr12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatcatggctctggccaaGcttcgtccacctacccctcc	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000402685.2	+	4	1052	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K88N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	348							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTCTGGCCAAGCTTCGTCCAC	0.488																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(262-264)aaG>aaT		PDZ domain containing ring finger 4							165	138	147					12																	41900458		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900458G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1044G>T	12.37:g.41900458G>T	ENSP00000384197:p.Lys348Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.K348N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N	p.K88N			Q6ZMN7	PZRN4_HUMAN			4	652	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	348					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.264G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702531	0.48307	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.66;3.66	5.08	1.88	0.25563	.	3.044700	0.01135	N	0.006067	D	0.87273	0.6136	M	0.80183	2.485	0.49798	D	0.999824	D;P;P	0.89917	1.0;0.635;0.517	D;B;B	0.73708	0.981;0.347;0.317	T	0.69386	-0.5159	10	0.66056	D	0.02	-39.6877	10.0306	0.42099	0.4541:0.0:0.5459:0.0	.	348;88;90	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	348;90;88	ENSP00000384197:K348N;ENSP00000439990:K90N;ENSP00000298919:K88N	ENSP00000298919:K88N	K	+	3	2	PDZRN4	40186725	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	1.398000	0.34554	0.242000	0.21303	-0.251000	0.11542	AAG		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		56	306	1	0	7.77372e-23	1	8.81276e-23	56	306					T	41900458	G	T	41900458	3	4	79	1	0	0	0	0	1	0	0	0	11752	962	34	3	1131	3	PDZRN4	12	41900458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486222	41900458	91951437	13199	23516											
PDZRN4	29951	broad.mit.edu	37	chr12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctgccaaagacggccGgattcgagaaggggatcgga	15	9	0	2	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000402685.2	+	7	1345	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R186Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGACGGCCGGATTCGAGAA	0.398													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17633	0.0		0.0	False		,,,				2504	0.0					ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(556-558)cGg>cAg		PDZ domain containing ring finger 4		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	154	149	151		1337,563	4.3	0.9	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	446/1037,188/779	41949534	1,13005	2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41949534G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1337G>A	12.37:g.41949534G>A	ENSP00000384197:p.Arg446Gln					PDZRN4_ENST00000402685.2_Missense_Mutation_p.R446Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q	p.R186Q			Q6ZMN7	PZRN4_HUMAN			7	945	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	446					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.557G>A	CCDS53777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.177813	0.94846	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.16	4.26	0.50523	PDZ/DHR/GLGF (4);	0.087075	0.48767	N	0.000177	T	0.62539	0.2436	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.97	T	0.66492	-0.5910	10	0.87932	D	0	-15.3825	14.1885	0.65623	0.0732:0.0:0.9268:0.0	.	446;186;188	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	446;188;186	ENSP00000384197:R446Q;ENSP00000439990:R188Q;ENSP00000298919:R186Q	ENSP00000298919:R186Q	R	+	2	0	PDZRN4	40235801	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	7.891000	0.87319	1.489000	0.48450	0.650000	0.86243	CGG		0.398	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		94	478	0	0	0	1	0	94	478					A	41949534	G	A	41949534	3	1	79	1	0	0	0	0	1	0	0	0	11752	1116	39	1	1436	1	PDZRN4	12	41949534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49076	41949534	91902361	13200	23517											
GXYLT1	283464	broad.mit.edu	37	chr12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccattgcagcaatttgtGtggaattaaatttctttagt	9	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	239					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(715-717)aCa>aTa		glucoside xylosyltransferase 1							93	87	89					12																	42499768		1854	4102	5956	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42499768G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.716C>T	12.37:g.42499768G>A	ENSP00000381666:p.Thr239Ile					GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	p.T239I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			5	948	-			239					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.716C>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655056	0.88056	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.090831	0.85682	D	0.000000	T	0.61489	0.2351	M	0.78916	2.43	0.58432	D	0.999994	P;P	0.49090	0.9;0.919	P;P	0.52598	0.578;0.703	T	0.61322	-0.7086	10	0.54805	T	0.06	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	208;239	Q4G148-2;Q4G148	.;GXLT1_HUMAN	I	239;208	ENSP00000381666:T239I;ENSP00000280876:T208I	ENSP00000280876:T208I	T	-	2	0	GXYLT1	40786035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.533000	0.67160	2.885000	0.99019	0.655000	0.94253	ACA		0.368	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		78	270	0	0	0	1	0	78	270					A	42499768	G	A	42499768	3	1	79	1	0	0	0	0	1	0	0	0	6933	1377	48	2	622	2	GXYLT1	12	42499768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	550234	42499768	91352127	13201	23518											
ZCRB1	85437	broad.mit.edu	37	chr12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttctttatccttgggCgtcttgaatcatctgatgtt	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(598-600)cGc>cAc		zinc finger CCHC-type and RNA binding motif 1							139	123	129					12																	42706924		2203	4300	6503	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42706924C>T	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	29620	protein-coding gene	gene with protein product	"U11/U12 snRNP 31K"	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.599G>A	12.37:g.42706924C>T	ENSP00000266529:p.Arg200His					ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H|PPHLN1_ENST00000549190.1_Intron	p.R200H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	8	782	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	200					Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.599G>A	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506193	0.85282	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.51817	2.45;0.69	5.48	5.48	0.80851	.	0.098903	0.64402	D	0.000002	T	0.59569	0.2203	L	0.59436	1.845	0.47476	D	0.999437	D	0.71674	0.998	P	0.52710	0.707	T	0.63084	-0.6716	10	0.72032	D	0.01	-7.2678	19.3636	0.94453	0.0:1.0:0.0:0.0	.	200	Q8TBF4	ZCRB1_HUMAN	H	200;159	ENSP00000266529:R200H;ENSP00000446732:R159H	ENSP00000266529:R200H	R	-	2	0	ZCRB1	40993191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.573000	0.86826	0.655000	0.94253	CGC		0.353	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		9	179	0	0	0	1	0	9	179					T	42706924	C	T	42706924	3	4	79	1	0	0	0	0	1	0	0	0	17649	768	27	1	58	1	ZCRB1	12	42706924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207156	42706924	91144971	13202	23519											
PRICKLE1	144165	broad.mit.edu	37	chr12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattacacgtgaaacagacaAaacaggatgggtgccagcac	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	156	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)			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)		GAAACAGACAAAACAGGATGG	0.483																																						ENST00000455697.1																			0				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						c.(466-468)tTt>tCt		prickle homolog 1 (Drosophila)							91	90	90					12																	42862549		2203	4300	6503	SO:0001583	missense	0				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.chr12:42862549A>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.467T>C	12.37:g.42862549A>G	ENSP00000401060:p.Phe156Ser					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S	p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	5	752	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		156			LIM zinc-binding 1.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.467T>C	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	A	33	5.193653	0.94960	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.22	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-16.4253	16.0092	0.80385	1.0:0.0:0.0:0.0	.	156	Q96MT3	PRIC1_HUMAN	S	156	ENSP00000401060:F156S;ENSP00000398947:F156S;ENSP00000448359:F156S;ENSP00000345064:F156S;ENSP00000449819:F156S;ENSP00000447870:F156S	ENSP00000345064:F156S	F	-	2	0	PRICKLE1	41148816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	TTT		0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			66	269	0	0	0	1	0	66	269					G	42862549	A	G	42862549	3	3	79	1	0	0	0	0	1	0	0	0	12533	14	1	4	2044	4	PRICKLE1	12	42862549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155625	42862549	90989346	13203	23520											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgcaattcttggatgtaaGagatatggttgaagaattat	10	4	1	3	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1578	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGGATGTAAGAGATATGGTT	0.373																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4732-4734)Ctt>Att		ADAM metallopeptidase with thrombospondin type 1 motif, 20							146	134	138					12																	43777426		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777426G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4732C>A	12.37:g.43777426G>T	ENSP00000374071:p.Leu1578Ile						p.L1578I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4731	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1578			TSP type-1 13.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4732C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599366	0.03744	.	.	ENSG00000173157	ENST00000389420	T	0.58797	0.31	4.7	2.8	0.32819	.	0.702414	0.12233	N	0.487297	T	0.49115	0.1538	L	0.46157	1.445	0.54753	D	0.999988	B	0.27068	0.167	B	0.22601	0.04	T	0.35475	-0.9787	10	0.36615	T	0.2	.	11.2882	0.49234	0.0:0.2552:0.6129:0.1319	.	1578	P59510	ATS20_HUMAN	I	1578	ENSP00000374071:L1578I	ENSP00000374071:L1578I	L	-	1	0	ADAMTS20	42063693	0.905000	0.30787	0.291000	0.24904	0.014000	0.08584	0.870000	0.28010	0.623000	0.30267	0.655000	0.94253	CTT		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		28	140	1	0	8.24728e-16	1	9.03206e-16	28	140					T	43777426	G	T	43777426	3	4	79	1	0	0	0	0	1	0	0	0	266	942	33	3	1035	3	ADAMTS20	12	43777426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914877	43777426	90074469	13204	23521											
ADAMTS20	80070	broad.mit.edu	37	chr12	43821235	43821235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcctggcagaccacaGccctatgctgaagacctcca	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43821235G>T	ENST00000389420.3	-	27	3982	c.3983C>A	c.(3982-3984)gCt>gAt	p.A1328D	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1328	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGACCACAGCCCTATGCTG	0.473																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3982-3984)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							103	78	86					12																	43821235		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43821235G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3983C>A	12.37:g.43821235G>T	ENSP00000374071:p.Ala1328Asp					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D	p.A1328D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	27	3982	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1328			TSP type-1 9.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3983C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157116	0.57259	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.64;0.64;0.14	4.72	-1.94	0.07571	.	0.744776	0.11477	N	0.560154	T	0.49932	0.1586	N	0.21282	0.65	0.38356	D	0.944463	B;P	0.38473	0.11;0.633	B;P	0.48770	0.155;0.589	T	0.50980	-0.8763	10	0.41790	T	0.15	.	9.9186	0.41450	0.6293:0.0:0.3707:0.0	.	1328;446	P59510;E9PBD5	ATS20_HUMAN;.	D	1328;458;446;1328;1328	ENSP00000374071:A1328D;ENSP00000447427:A458D;ENSP00000378911:A446D;ENSP00000448341:A1328D	ENSP00000374068:A1328D	A	-	2	0	ADAMTS20	42107502	0.999000	0.42202	0.265000	0.24526	0.885000	0.51271	2.340000	0.43974	-0.435000	0.07264	-0.312000	0.09012	GCT		0.473	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		16	145	1	0	0.000308642	1	0.000312942	16	145					T	43821235	G	T	43821235	3	4	79	1	0	0	0	0	1	0	0	0	266	971	34	3	1800	3	ADAMTS20	12	43821235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43809	43821235	90030660	13205	23522											
ADAMTS20	80070	broad.mit.edu	37	chr12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgccatgaacaaaagTtctttaatgtggtagcacca	8	7	1	1	rs375762593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	332	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAAAGTTCTTTAATGT	0.363																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(994-996)aAc>aCc		ADAM metallopeptidase with thrombospondin type 1 motif, 20		T	THR/ASN	0,4406		0,0,2203	176	142	153		995	3.7	0.9	12		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	65	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging	332/1911	43886389	1,13005	2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886389T>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.995A>C	12.37:g.43886389T>G	ENSP00000374071:p.Asn332Thr					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	994	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	332			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.995A>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588289	0.46110	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87179	-2.22;-2.22	4.79	3.65	0.41850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000058	D	0.92031	0.7475	M	0.88775	2.98	0.80722	D	1	D	0.53885	0.963	P	0.56216	0.794	D	0.92147	0.5725	10	0.72032	D	0.01	.	10.5595	0.45138	0.0:0.0772:0.0:0.9228	.	332	P59510	ATS20_HUMAN	T	332	ENSP00000374071:N332T;ENSP00000448341:N332T	ENSP00000374068:N332T	N	-	2	0	ADAMTS20	42172656	1.000000	0.71417	0.922000	0.36590	0.027000	0.11550	4.622000	0.61240	0.940000	0.37473	0.455000	0.32223	AAC		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		29	135	0	0	0	1	0	29	135					G	43886389	T	G	43886389	3	3	79	1	0	0	0	0	1	0	0	0	266	1725	60	4	4872	4	ADAMTS20	12	43886389	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65154	43886389	89965506	13206	23523											
PUS7L	83448	broad.mit.edu	37	chr12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatttggttttacaacaaTttcactgttttttcctacag	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	195					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTACAACAATTTCACTGTTT	0.323																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(583-585)Att>Gtt		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							62	62	62					12																	44148466		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148466T>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.583A>G	12.37:g.44148466T>C	ENSP00000415899:p.Ile195Val					PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron	p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1071	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	195					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.583A>G	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226412	0.22542	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24538	1.98;1.98;1.98;1.85	5.08	2.65	0.31530	Pseudouridine synthase, catalytic domain (1);	0.210827	0.48767	N	0.000162	T	0.12561	0.0305	N	0.17872	0.535	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.13255	-1.0516	10	0.13470	T	0.59	-16.7902	5.653	0.17627	0.0:0.1542:0.143:0.7028	.	195	Q9H0K6	PUS7L_HUMAN	V	195	ENSP00000415899:I195V;ENSP00000343081:I195V;ENSP00000447706:I195V;ENSP00000446865:I195V	ENSP00000343081:I195V	I	-	1	0	PUS7L	42434733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.344000	0.44010	0.450000	0.26774	0.482000	0.46254	ATT		0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		76	247	0	0	0	1	0	76	247					C	44148466	T	C	44148466	3	2	79	1	0	0	0	0	1	0	0	0	12884	1493	52	4	1554	4	PUS7L	12	44148466	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262077	44148466	89703429	13207	23524											
IRAK4	51135	broad.mit.edu	37	chr12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttcagcaaaaacagatgcCtttctgtgacaaagacagga	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000448290.2	+	4	448	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	126					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373																																						ENST00000431837.1																			0											c.(4-6)cCt>cAt		interleukin-1 receptor-associated kinase 4							110	99	103					12																	44166052		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166052C>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.377C>A	12.37:g.44166052C>A	ENSP00000390651:p.Pro126His					IRAK4_ENST00000448290.2_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	p.P2H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	313	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	126					Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.5C>A	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591258	0.46214	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77620	-1.07;-1.07;-1.11;-1.11	5.32	4.29	0.51040	.	0.571871	0.19382	N	0.115633	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	P	0.35821	0.523	B	0.42882	0.401	T	0.67730	-0.5595	10	0.46703	T	0.11	-1.4818	8.1865	0.31341	0.0:0.8597:0.0:0.1403	.	126	Q9NWZ3	IRAK4_HUMAN	H	2;2;126;126;126	ENSP00000408734:P2H;ENSP00000390327:P2H;ENSP00000390651:P126H;ENSP00000446490:P126H	ENSP00000349096:P126H	P	+	2	0	IRAK4	42452319	0.010000	0.17322	0.002000	0.10522	0.009000	0.06853	1.834000	0.39171	1.128000	0.42052	0.655000	0.94253	CCT		0.373	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			58	283	1	0	6.60958e-23	1	7.49606e-23	58	283					A	44166052	C	A	44166052	3	1	79	1	0	0	0	0	1	0	0	0	7855	681	24	3	387	3	IRAK4	12	44166052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17586	44166052	89685843	13208	23525											
TWF1	5756	broad.mit.edu	37	chr12	44191256	44191256	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttttatatctatttcCtgccaataagaaacaaaata	2	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site|TWF1_ENST00000552521.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1						barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATCTATTTCCTGCCAATAAG	0.299																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.e7-1		twinfilin actin-binding protein 1							29	30	29					12																	44191256		2200	4294	6494	SO:0001630	splice_region_variant	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44191256C>T	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.610-1G>A	12.37:g.44191256C>T						TWF1_ENST00000552521.1_Splice_Site|TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site		NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	7	739	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)						A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Splice_Site	SNP	ENST00000395510.2	37		CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005480	0.54254	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWF1	42477523	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.475000	0.53136	2.435000	0.82474	0.591000	0.81541	.		0.299	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	Intron	19	117	0	0	0	1	0	19	117					T	44191256	C	T	44191256	5	4	79	1	0	0	0	0	0	0	1	0	16835	695	24	2	455	2	TWF1	12	44191256	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25204	44191256	89660639	13209	23526											
NELL2	4753	broad.mit.edu	37	chr12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtccaggcaagtcttgGtgatgtcattgcggatggtg	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2308-2310)aCc>aTc		NEL-like 2 (chicken)							129	108	115					12																	44913879		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913879G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2309C>T	12.37:g.44913879G>A	ENSP00000390680:p.Thr770Ile					NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I	p.T770I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2813	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	770			VWFC 5.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2309C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545464	0.65198	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82344	-1.54;-1.52;-1.22;-1.52;-1.54;-1.48;-1.6	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82416	0.5032	L	0.57536	1.79	0.50313	D	0.999869	B;P;P;P;B	0.45827	0.19;0.738;0.867;0.79;0.311	B;B;P;B;B	0.48030	0.11;0.382;0.564;0.255;0.13	T	0.79455	-0.1796	10	0.19590	T	0.45	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	769;770;722;770;769;793;820	ENSP00000378866:T769I;ENSP00000390680:T770I;ENSP00000449332:T722I;ENSP00000394612:T770I;ENSP00000447927:T769I;ENSP00000327988:T793I;ENSP00000416341:T820I	ENSP00000327988:T793I	T	-	2	0	NELL2	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC		0.532	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		36	261	0	0	0	1	0	36	261					A	44913879	G	A	44913879	3	1	79	1	0	0	0	0	1	0	0	0	10376	1261	44	2	149	2	NELL2	12	44913879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722623	44913879	88938016	13210	23527											
NELL2	4753	broad.mit.edu	37	chr12	44913995	44913995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcaaggcaggggccaAcaatcaacttccccttgcta	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000395487.2_Silent_p.C730C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	731	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAGGGGCCAACAATCAACTT	0.557																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2191-2193)tgT>tgC		NEL-like 2 (chicken)							53	44	47					12																	44913995		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913995A>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2193T>C	12.37:g.44913995A>G						NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C	p.C731C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2697	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	731			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.2193T>C	CCDS8746.1																																																																																				0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		12	97	0	0	0	1	0	12	97					G	44913995	A	G	44913995	2	3	79	1	0	0	0	0	0	0	0	1	10376	41	2	4		4	NELL2	12	44913995	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116	44913995	88937900	13211	23528											
NELL2	4753	broad.mit.edu	37	chr12	45105088	45105088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttacctttacaaactttGcaacagctgtgagacaaggt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000395487.2_Silent_p.C391C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	392						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACAAACTTTGCAACAGCTGT	0.388																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1174-1176)tgC>tgT		NEL-like 2 (chicken)							114	105	108					12																	45105088		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45105088G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1176C>T	12.37:g.45105088G>A						NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C	p.C392C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	11	1680	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	392			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1176C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122990	0.20959	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.76652	0.4017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-14.136	20.0473	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	V	136	.	.	A	-	2	0	NELL2	43391355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.722000	0.93159	0.655000	0.94253	GCA		0.388	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		54	246	0	0	0	1	0	54	246					A	45105088	G	A	45105088	2	1	79	1	0	0	0	0	0	0	0	1	10376	1311	46	2		2	NELL2	12	45105088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191093	45105088	88746807	13212	23529											
NELL2	4753	broad.mit.edu	37	chr12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgagggcggtgactgcCtgagcggtaatgcagtctga	17	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	132	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTGACTGCCTGAGCGGTAA	0.468																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(394-396)Ggc>Agc		NEL-like 2 (chicken)							171	153	159					12																	45173747		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173747C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.394G>A	12.37:g.45173747C>T	ENSP00000390680:p.Gly132Ser					NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S	p.G132S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	898	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	132			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.394G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302698	0.60195	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.331335	0.34676	N	0.003768	T	0.70002	0.3174	N	0.17082	0.46	0.43740	D	0.996233	B;B;B;B;B;B	0.17038	0.016;0.02;0.016;0.006;0.005;0.011	B;B;B;B;B;B	0.23018	0.043;0.023;0.017;0.029;0.018;0.014	T	0.63541	-0.6614	10	0.25751	T	0.34	-15.9435	12.2547	0.54617	0.0:0.8608:0.0:0.1392	.	155;182;131;132;132;131	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	131;132;131;132;131;155;182;131;132;129	ENSP00000378866:G131S;ENSP00000390680:G132S;ENSP00000449332:G131S;ENSP00000394612:G132S;ENSP00000447927:G131S;ENSP00000327988:G155S;ENSP00000416341:G182S;ENSP00000447085:G132S;ENSP00000447384:G129S	ENSP00000327988:G155S	G	-	1	0	NELL2	43460014	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	GGC		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		113	529	0	0	0	1	0	113	529					T	45173747	C	T	45173747	3	4	79	1	0	0	0	0	1	0	0	0	10376	681	24	2	2124	2	NELL2	12	45173747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68659	45173747	88678148	13213	23530											
DBX2	440097	broad.mit.edu	37	chr12	45429866	45429866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgccgagtagaatggCggggtgctcagaaggaaagg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(433-435)ccG>ccA		developing brain homeobox 2							63	70	67					12																	45429866		2203	4300	6503	SO:0001819	synonymous_variant	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429866C>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.435G>A	12.37:g.45429866C>T							p.P145P	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	606	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	145						Silent	SNP	ENST00000332700.6	37	c.435G>A	CCDS31781.1																																																																																				0.473	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		26	127	0	0	0	1	0	26	127					T	45429866	C	T	45429866	2	4	79	1	0	0	0	0	0	0	0	1	4271	755	27	1		1	DBX2	12	45429866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256119	45429866	88422029	13214	23531											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567294	45567294	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccacaagagggcttcagtCgctgagttcctaacctgggc	12	12	1	2	rs150166068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45567294C>T	ENST00000256692.5	-	0	1391					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCTTCAGTCGCTGAGTTCC	0.438																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26										C		6,4400	11.4+/-27.6	0,6,2197	79	78	79			-0.9	0	12	dbSNP_134	79	0,8600		0,0,4300	no	intergenic				0,6,6497	TT,TC,CC		0.0,0.1362,0.0461			45567294	6,13000	2203	4300	6503			0							g.chr12:45567294C>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567294C>T								NR_037144.1						0	1391	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.438	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		81	292	0	0	0	1	0	81	292					T	45567294	C	T	45567294	1	4	79	0	1	0	0	0	0	0	0	0	12105	871	31	1		1	PLEKHA9	12	45567294	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137428	45567294	88284601	13215	23532											
ARID2	196528	broad.mit.edu	37	chr12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgaaagctgggcattaacGatattgaaggacagcgggta	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	280					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGCATTAACGATATTGAAGG	0.393			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(838-840)Gat>Aat		AT rich interactive domain 2 (ARID, RFX-like)							146	146	146					12																	46230589		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230589G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.838G>A	12.37:g.46230589G>A	ENSP00000335044:p.Asp280Asn					ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000479608.1_3'UTR	p.D280N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	1010	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	280					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.838G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180385	0.94846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.52754	0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67047	-0.5769	10	0.72032	D	0.01	-13.3765	20.2009	0.98259	0.0:0.0:1.0:0.0	.	280	Q68CP9	ARID2_HUMAN	N	280;131	ENSP00000335044:D280N;ENSP00000415650:D131N	ENSP00000335044:D280N	D	+	1	0	ARID2	44516856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	GAT		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		13	503	0	0	0	1	0	13	503					A	46230589	G	A	46230589	3	1	79	1	0	0	0	0	1	0	0	0	915	1058	37	1	868	1	ARID2	12	46230589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	663295	46230589	87621306	13216	23533											
ARID2	196528	broad.mit.edu	37	chr12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaacacccaagttccaGtcatcaaatgttatctgaaa	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	474					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAGTTCCAGTCATCAAATG	0.403			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1420-1422)aGt>aAt		AT rich interactive domain 2 (ARID, RFX-like)							176	160	166					12																	46233202		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233202G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1421G>A	12.37:g.46233202G>A	ENSP00000335044:p.Ser474Asn					ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	p.S474N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1593	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	474					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1421G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012622	0.35511	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.09	0.249	0.15531	.	0.491901	0.23801	N	0.044436	T	0.11922	0.0290	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-0.8804	4.9068	0.13802	0.3033:0.2931:0.4036:0.0	.	474;325;474	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	474;325;84	ENSP00000335044:S474N	ENSP00000335044:S474N	S	+	2	0	ARID2	44519469	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.597000	0.24059	0.205000	0.20568	0.655000	0.94253	AGT		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		110	451	0	0	0	1	0	110	451					A	46233202	G	A	46233202	3	1	79	1	0	0	0	0	1	0	0	0	915	1029	36	2	1463	2	ARID2	12	46233202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2613	46233202	87618693	13217	23534											
ARID2	196528	broad.mit.edu	37	chr12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctttttcacagaacActcctatgccaccttcacca	3	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1593					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCACAGAACACTCCTATGCC	0.393			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4777-4779)Act>Gct		AT rich interactive domain 2 (ARID, RFX-like)							64	60	62					12																	46254587		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46254587A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4777A>G	12.37:g.46254587A>G	ENSP00000335044:p.Thr1593Ala					ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	p.T1593A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	16	4949	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1593					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4777A>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865393	0.51588	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.34072	1.38;1.57	5.86	5.86	0.93980	.	0.157958	0.56097	D	0.000029	T	0.38214	0.1032	L	0.44542	1.39	0.40793	D	0.983272	B;B;B	0.33022	0.394;0.394;0.15	B;B;B	0.37650	0.255;0.12;0.041	T	0.29243	-1.0018	10	0.56958	D	0.05	-15.3707	16.2644	0.82568	1.0:0.0:0.0:0.0	.	1593;1203;1593	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1593;710;710;1444;1203;201	ENSP00000335044:T1593A;ENSP00000388357:T201A	ENSP00000335044:T1593A	T	+	1	0	ARID2	44540854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.244000	0.73946	0.528000	0.53228	ACT		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		44	214	0	0	0	1	0	44	214					G	46254587	A	G	46254587	3	3	79	1	0	0	0	0	1	0	0	0	915	159	6	4	4839	4	ARID2	12	46254587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21385	46254587	87597308	13218	23535											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318633	46318633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggctacctgcatgagggGcactcctgtgtggagatgca	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46318633G>A	ENST00000369367.3	-	12	4017	c.3784C>T	c.(3784-3786)Ccc>Tcc	p.P1262S	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.P1262S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P1070S|SCAF11_ENST00000465950.1_Missense_Mutation_p.P947S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1262	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCATGAGGGGCACTCCTGTG	0.517																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2839-2841)Ccc>Tcc		SR-related CTD-associated factor 11							169	133	145					12																	46318633		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318633G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3784C>T	12.37:g.46318633G>A	ENSP00000358374:p.Pro1262Ser					SCAF11_ENST00000369367.3_Missense_Mutation_p.P1262S|SCAF11_ENST00000419565.2_Missense_Mutation_p.P1262S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P1070S	p.P947S			Q99590	SCAFB_HUMAN			2	4048	-			1262			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2839C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812946	0.90707	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000009	T	0.79793	0.4507	M	0.74881	2.28	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.79564	-0.1751	9	.	.	.	-19.8019	19.2013	0.93712	0.0:0.0:1.0:0.0	.	1262	Q99590	SCAFB_HUMAN	S	947;1262;1070;1262	ENSP00000449812:P947S;ENSP00000358374:P1262S;ENSP00000448864:P1070S;ENSP00000413036:P1262S	.	P	-	1	0	SCAF11	44604900	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.071000	0.89494	2.611000	0.88343	0.563000	0.77884	CCC		0.517	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		57	237	0	0	0	1	0	57	237					A	46318633	G	A	46318633	3	1	79	1	0	0	0	0	1	0	0	0	14227	1203	42	2	623	2	SFRS2IP	12	46318633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64046	46318633	87533262	13219	23536											
SFRS2IP	9169	broad.mit.edu	37	chr12	46321115	46321115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaatgaaatctagatcttCgagtacgaggctttttggtt	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46321115C>T	ENST00000369367.3	-	11	2602	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.R790Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.R598Q|SCAF11_ENST00000465950.1_Missense_Mutation_p.R475Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	790					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTAGATCTTCGAGTACGAGG	0.433																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1423-1425)cGa>cAa		SR-related CTD-associated factor 11							178	179	179					12																	46321115		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321115C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2369G>A	12.37:g.46321115C>T	ENSP00000358374:p.Arg790Gln					SCAF11_ENST00000369367.3_Missense_Mutation_p.R790Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.R790Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.R598Q	p.R475Q			Q99590	SCAFB_HUMAN			1	2633	-			790					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1424G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926837	0.73327	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.69685	0.95;1.67;0.94;1.67;-0.42	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000032	T	0.79575	0.4469	M	0.62723	1.935	0.33235	D	0.556467	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.84366	0.0541	10	0.62326	D	0.03	-11.8117	14.9211	0.70838	0.1431:0.8569:0.0:0.0	.	598;790	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	475;790;598;790;730	ENSP00000449812:R475Q;ENSP00000358374:R790Q;ENSP00000448864:R598Q;ENSP00000413036:R790Q;ENSP00000446746:R730Q	ENSP00000358374:R790Q	R	-	2	0	SCAF11	44607382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.479000	0.66813	2.775000	0.95449	0.655000	0.94253	CGA		0.433	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		105	464	0	0	0	1	0	105	464					T	46321115	C	T	46321115	3	4	79	1	0	0	0	0	1	0	0	0	14227	884	31	1	2042	1	SFRS2IP	12	46321115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2482	46321115	87530780	13220	23537											
SLC38A1	81539	broad.mit.edu	37	chr12	46591706	46591706	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcatgaagccatacctacGactccaaaaatatccttcat	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000398637.5	-	15	1954	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000549049.1_Silent_p.V420V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	420					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATACCTACGACTCCAAAAA	0.373																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(1258-1260)gtC>gtT		solute carrier family 38, member 1							97	89	92					12																	46591706		1889	4124	6013	SO:0001819	synonymous_variant	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591706G>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1260C>T	12.37:g.46591706G>A						SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V	p.V420V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		15	1954	-	Lung SC(27;0.137)|Renal(347;0.236)		420					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	c.1260C>T	CCDS41774.1																																																																																				0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			60	215	0	0	0	1	0	60	215					A	46591706	G	A	46591706	2	1	79	1	0	0	0	0	0	0	0	1	14651	1045	37	1		1	SLC38A1	12	46591706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270591	46591706	87260189	13221	23538											
SLC38A2	54407	broad.mit.edu	37	chr12	46758265	46758265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgttggctgtgttaaGgtggtgtttattgtttcgtt	14	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.T98T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	260					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(778-780)acC>acA		solute carrier family 38, member 2							263	263	263					12																	46758265		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46758265G>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.780C>A	12.37:g.46758265G>T						SLC38A2_ENST00000551374.1_Silent_p.T98T	p.T260T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	10	1224	-	Lung SC(27;0.192)|Renal(347;0.236)		260					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.780C>A	CCDS8749.1																																																																																				0.368	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			98	1094	1	0	3.4779e-39	1	4.20191e-39	98	1094					T	46758265	G	T	46758265	2	4	79	1	0	0	0	0	0	0	0	1	14654	987	35	3		3	SLC38A2	12	46758265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166559	46758265	87093630	13222	23539											
SLC38A4	55089	broad.mit.edu	37	chr12	47168916	47168916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggatgtctaatgtataCactttgctgtaggcatgaag	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	405					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTAATGTATACACTTTGCTGT	0.438																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1213-1215)gtG>gtA		solute carrier family 38, member 4							154	136	142					12																	47168916		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47168916C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1215G>A	12.37:g.47168916C>T						SLC38A4_ENST00000266579.4_Silent_p.V405V	p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			13	1421	-	Lung SC(27;0.192)|Renal(347;0.236)		405					A8K553	Silent	SNP	ENST00000447411.1	37	c.1215G>A	CCDS8750.1																																																																																				0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			81	407	0	0	0	1	0	81	407					T	47168916	C	T	47168916	2	4	79	1	0	0	0	0	0	0	0	1	14656	465	17	2		2	SLC38A4	12	47168916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410651	47168916	86682979	13223	23540											
SLC38A4	55089	broad.mit.edu	37	chr12	47173814	47173814	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggtagcttgacattgCtaaaatggaaaatgtgacag	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGACATTGCTAAAATGGAA	0.378																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.e7-1		solute carrier family 38, member 4							109	98	101					12																	47173814		2203	4299	6502	SO:0001630	splice_region_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47173814C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.494-1G>A	12.37:g.47173814C>T						SLC38A4_ENST00000266579.4_Splice_Site		NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			7	700	-	Lung SC(27;0.192)|Renal(347;0.236)							A8K553	Splice_Site	SNP	ENST00000447411.1	37		CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310032	0.81247	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A4	45460081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	.		0.378	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		Intron	74	316	0	0	0	1	0	74	316					T	47173814	C	T	47173814	5	4	79	1	0	0	0	0	0	0	1	0	14656	811	28	2	1190	2	SLC38A4	12	47173814	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4898	47173814	86678081	13224	23541											
AMIGO2	91523	broad.mit.edu	37	chr12	47471719	47471719	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatacactccagcatccTcaaaacgagggctttctata	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47471719T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000266581.4_Missense_Mutation_p.E356G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TCCAGCATCCTCAAAACGAGG	0.418																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1066-1068)gAg>gGg		adhesion molecule with Ig-like domain 2							128	129	129					12																	47471719		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471719T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471719T>C	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G	p.E356G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1533	-	Renal(347;0.138)|Lung SC(27;0.192)		356			Ig-like C2-type.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1067A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209101	0.58343	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.02	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	L	0.46670	1.46	0.53005	D	0.99996	P	0.34757	0.467	B	0.39119	0.291	T	0.04509	-1.0946	10	0.34782	T	0.22	-20.9045	9.2112	0.37320	0.0:0.0829:0.0:0.9171	.	356	Q86SJ2	AMGO2_HUMAN	G	356	ENSP00000266581:E356G;ENSP00000449034:E356G;ENSP00000406020:E356G;ENSP00000320848:E356G	ENSP00000266581:E356G	E	-	2	0	AMIGO2	45757986	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.776000	0.68924	2.183000	0.69458	0.454000	0.30748	GAG		0.418	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		59	624	0	0	0	1	0	59	624					C	47471719	T	C	47471719	1	2	79	0	1	0	0	0	0	0	0	0	576	1551	54	4		4	AMIGO2	12	47471719	5'Flank	SNP	T	TCGA-IB-7651-01A-11D-2154-08	297905	47471719	86380176	13225	23542											
AMIGO2	91523	broad.mit.edu	37	chr12	47472178	47472178	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcattggcatggaaggaattCggttataagaaacatctaaa	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47472178C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R203Q			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.R203Q(1)									GGAAGGAATTCGGTTATAAGA	0.413																																						ENST00000266581.4																			1	Substitution - Missense(1)	p.R203Q(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(607-609)cGa>cAa		adhesion molecule with Ig-like domain 2							68	62	64					12																	47472178		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472178C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472178C>T	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q	p.R203Q	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1074	-	Renal(347;0.138)|Lung SC(27;0.192)		203					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.608G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075664	0.36662	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.92	0.84	0.18912	.	0.416223	0.20229	N	0.096530	T	0.01523	0.0049	N	0.11106	0.095	0.19575	N	0.999964	B	0.12013	0.005	B	0.14578	0.011	T	0.47289	-0.9129	10	0.28530	T	0.3	-5.6583	4.5798	0.12253	0.1437:0.4512:0.0:0.405	.	203	Q86SJ2	AMGO2_HUMAN	Q	203	ENSP00000266581:R203Q;ENSP00000449034:R203Q;ENSP00000406020:R203Q;ENSP00000320848:R203Q	ENSP00000266581:R203Q	R	-	2	0	AMIGO2	45758445	0.012000	0.17670	0.182000	0.23118	0.880000	0.50808	0.213000	0.17521	0.033000	0.15463	-0.140000	0.14226	CGA		0.413	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		56	288	0	0	0	1	0	56	288					T	47472178	C	T	47472178	1	4	79	0	1	0	0	0	0	0	0	0	576	884	31	1		1	AMIGO2	12	47472178	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459	47472178	86379717	13226	23543											
FAM113B	91523	broad.mit.edu	37	chr12	47629064	47629064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggccacatgcacaacgGccttaactaccgtgaggtcc	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629064G>A	ENST00000546455.1	+	4	949	c.218G>A	c.(217-219)gGc>gAc	p.G73D	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	73							hydrolase activity (GO:0016787)										ATGCACAACGGCCTTAACTAC	0.597																																						ENST00000546455.1																			0											c.(217-219)gGc>gAc		PC-esterase domain containing 1B							108	98	101					12																	47629064		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629064G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.218G>A	12.37:g.47629064G>A	ENSP00000446688:p.Gly73Asp					PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D	p.G73D							4	949	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.218G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961183	0.53400	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.154442	0.41823	D	0.000804	T	0.42086	0.1187	M	0.80183	2.485	0.42662	D	0.993489	D	0.89917	1.0	D	0.87578	0.998	T	0.34775	-0.9815	10	0.39692	T	0.17	-18.9126	13.9718	0.64245	0.0:0.0:1.0:0.0	.	73	Q96HM7	F113B_HUMAN	D	73	ENSP00000446688:G73D;ENSP00000396040:G73D;ENSP00000449680:G73D;ENSP00000448000:G73D	ENSP00000396040:G73D	G	+	2	0	FAM113B	45915331	1.000000	0.71417	0.268000	0.24571	0.018000	0.09664	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGC		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		13	416	0	0	0	1	0	13	416					A	47629064	G	A	47629064	3	1	79	1	0	0	0	0	1	0	0	0	5423	1203	42	2	220	2	FAM113B	12	47629064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156886	47629064	86222831	13227	23544											
FAM113B	91523	broad.mit.edu	37	chr12	47629701	47629701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggccaacagaaatcaCccggccttacctctgtcccc	6	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629701C>T	ENST00000546455.1	+	4	1586	c.855C>T	c.(853-855)caC>caT	p.H285H	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.H285H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	285	Pro-rich.						hydrolase activity (GO:0016787)										ACAGAAATCAcccggccttac	0.667																																						ENST00000546455.1																			0											c.(853-855)caC>caT		PC-esterase domain containing 1B							22	25	24					12																	47629701		2200	4286	6486	SO:0001819	synonymous_variant	91523							g.chr12:47629701C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.855C>T	12.37:g.47629701C>T						PCED1B_ENST00000432328.1_Silent_p.H285H	p.H285H							4	1586	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.855C>T	CCDS8752.1																																																																																				0.667	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		29	116	0	0	0	1	0	29	116					T	47629701	C	T	47629701	2	4	79	1	0	0	0	0	0	0	0	1	5423	506	18	2		2	FAM113B	12	47629701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637	47629701	86222194	13228	23545											
RPAP3	79657	broad.mit.edu	37	chr12	48073291	48073291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagttgatccaggatgCggtggattatcaatgggttt	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	424										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1270-1272)ccG>ccA		RNA polymerase II associated protein 3							99	91	94					12																	48073291		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48073291C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1272G>A	12.37:g.48073291C>T						RPAP3_ENST00000432584.3_Silent_p.P265P|RPAP3_ENST00000380650.4_Intron	p.P424P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			12	1387	-	Lung SC(27;0.192)		424					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1272G>A	CCDS8753.1																																																																																				0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		30	153	0	0	0	1	0	30	153					T	48073291	C	T	48073291	2	4	79	1	0	0	0	0	0	0	0	1	13593	755	27	1		1	RPAP3	12	48073291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	443590	48073291	85778604	13229	23546											
RPAP3	79657	broad.mit.edu	37	chr12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccatctaataaaatggCttgtgtgcagtctttttcag	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	342										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1024-1026)Gcc>Acc		RNA polymerase II associated protein 3							91	83	86					12																	48075569		2203	4299	6502	SO:0001583	missense	79657						binding	g.chr12:48075569C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1024G>A	12.37:g.48075569C>T	ENSP00000005386:p.Ala342Thr					RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T|RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T	p.A342T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			10	1139	-	Lung SC(27;0.192)		342					B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.1024G>A	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226288	0.95173	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104094	0.64402	D	0.000003	D	0.89441	0.6716	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.91390	0.5134	10	0.87932	D	0	.	18.4725	0.90779	0.0:1.0:0.0:0.0	.	342;342	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	342;183;342	ENSP00000005386:A342T;ENSP00000401823:A183T;ENSP00000370024:A342T	ENSP00000005386:A342T	A	-	1	0	RPAP3	46361836	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.239000	0.78182	2.689000	0.91719	0.460000	0.39030	GCC		0.338	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		41	205	0	0	0	1	0	41	205					T	48075569	C	T	48075569	3	4	79	1	0	0	0	0	1	0	0	0	13593	797	28	2	1005	2	RPAP3	12	48075569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2278	48075569	85776326	13230	23547											
ENDOU	8909	broad.mit.edu	37	chr12	48110168	48110168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctgctcggccagctcCtgggcactgaagtgctcccc	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	222					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542202.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14								endonuclease, polyU-specific							130	119	123					12																	48110168		2203	4300	6503	SO:0001583	missense	8909				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	g.chr12:48110168C>A	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.666G>T	12.37:g.48110168C>A	ENSP00000397679:p.Gln222His		OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H				P21128	ENDOU_HUMAN			0	415	-								B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Translation_Start_Site	SNP	ENST00000422538.3	37		CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	ENDOU	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG		0.562	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		56	290	1	0	3.4597e-24	1	3.94879e-24	56	290					A	48110168	C	A	48110168	3	1	79	1	0	0	0	0	1	0	0	0	5134	680	24	3	586	3	ENDOU	12	48110168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34599	48110168	85741727	13231	23548											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134179	48134179	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcttctgctccttgaggCtgtgagcagaagacccagag	12	10	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000449771.2	-	22	2320		c.e22-1		RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000405493.2_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCCTTGAGGCTGTGAGCAGA	0.582																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.e22-1		Rap guanine nucleotide exchange factor (GEF) 3							48	47	47					12																	48134179		2203	4300	6503	SO:0001630	splice_region_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134179C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2232-1G>T	12.37:g.48134179C>A						RAPGEF3_ENST00000549151.1_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000449771.2_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site		NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	22	2315	-	Lung SC(27;0.192)							A8K2G5|E7EQC8|O95634|Q8WVN0	Splice_Site	SNP	ENST00000449771.2	37		CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584798	0.65992	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46420446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.472000	0.83506	0.644000	0.83932	.		0.582	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	Intron	42	192	1	0	9.62906e-15	1	1.04819e-14	42	192					A	48134179	C	A	48134179	5	1	79	1	0	0	0	0	0	0	1	0	13095	811	28	3	568	3	RAPGEF3	12	48134179	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24011	48134179	85717716	13232	23549											
RAPGEF3	10411	broad.mit.edu	37	chr12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatcacctgtggcatcGccgcctctctggccactgct	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000449771.2	-	15	1634	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	516	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(1420-1422)Cga>Tga		Rap guanine nucleotide exchange factor (GEF) 3							65	61	63					12																	48141337		2203	4300	6503	SO:0001587	stop_gained	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48141337G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1546C>T	12.37:g.48141337G>A	ENSP00000395708:p.Arg516*					RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*	p.R474*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	15	1629	-	Lung SC(27;0.192)		474					A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	ENST00000449771.2	37	c.1420C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	RAPGEF3	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA		0.537	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		58	269	0	0	0	1	0	58	269					A	48141337	G	A	48141337	4	1	79	1	0	0	0	0	0	1	0	0	13095	1095	38	1	1281	1	RAPGEF3	12	48141337	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7158	48141337	85710558	13233	23550											
HDAC7	51564	broad.mit.edu	37	chr12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacctcacactggctcCggagcccccgctcctgcagc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000427332.2	-	14	1838	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R600Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000488927.1_5'UTR			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	561	Histone deacetylase.			R -> L (in Ref. 5; BAA91545). {ECO:0000305}.	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)			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)		ACACTGGCTCCGGAGCCCCCG	0.706																																						ENST00000080059.7																			0				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						c.(1798-1800)cGg>cAg		histone deacetylase 7							10	12	11					12																	48185667		2188	4274	6462	SO:0001583	missense	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.chr12:48185667C>T	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.1682G>A	12.37:g.48185667C>T	ENSP00000404394:p.Arg561Gln					HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000427332.2_Missense_Mutation_p.R561Q	p.R600Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	14	1798	-			561			Histone deacetylase.		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1799G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679823|4.679823	0.88542|0.88542	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|0.057425	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.35793|0.35793	1.09|1.09	0.45791|0.45791	D|D	0.998671|0.998671	.|B;P;D	.|0.62365	.|0.443;0.688;0.991	.|B;B;B	.|0.43867	.|0.081;0.014;0.434	T|T	0.62110|0.62110	-0.6923|-0.6923	5|10	.|0.48119	.|T	.|0.1	.|.	14.2362|14.2362	0.65929|0.65929	0.1505:0.8495:0.0:0.0|0.1505:0.8495:0.0:0.0	.|.	.|600;583;563	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	R|Q	41|600;563;583;617;561	.|ENSP00000080059:R600Q;ENSP00000351326:R563Q;ENSP00000448532:R583Q;ENSP00000369984:R617Q;ENSP00000404394:R561Q	.|ENSP00000080059:R600Q	G|R	-|-	1|2	0|0	HDAC7|HDAC7	46471934|46471934	0.896000|0.896000	0.30565|0.30565	0.921000|0.921000	0.36526|0.36526	0.984000|0.984000	0.73092|0.73092	2.420000|2.420000	0.44679|0.44679	1.315000|1.315000	0.45114|0.45114	0.558000|0.558000	0.71614|0.71614	GGA|CGG		0.706	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			33	140	0	0	0	1	0	33	140					T	48185667	C	T	48185667	3	4	79	1	0	0	0	0	1	0	0	0	7042	652	23	1	1228	1	HDAC7	12	48185667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44330	48185667	85666228	13234	23551											
HDAC7	51564	broad.mit.edu	37	chr12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggactgccatacctgagGgtgctgctggagaggagcgg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000427332.2	-	12	1492	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000080059.7_Missense_Mutation_p.P485S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	446	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)			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)		CATACCTGAGGGTGCTGCTGG	0.657																																						ENST00000080059.7																			0				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						c.(1453-1455)Cct>Tct		histone deacetylase 7							30	33	32					12																	48188548		2203	4300	6503	SO:0001583	missense	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.chr12:48188548G>A	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.1336C>T	12.37:g.48188548G>A	ENSP00000404394:p.Pro446Ser					HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000427332.2_Missense_Mutation_p.P446S	p.P485S	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1452	-			446			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1453C>T		.	.	.	.	.	.	.	.	.	.	G	4.617	0.114730	0.08831	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.53206	0.64;0.64;0.65;0.63;0.65	4.9	4.9	0.64082	.	0.653207	0.14765	N	0.299758	T	0.27027	0.0662	N	0.08118	0	0.20307	N	0.999919	B;B;B	0.17852	0.024;0.007;0.011	B;B;B	0.17433	0.018;0.012;0.013	T	0.07597	-1.0764	10	0.11485	T	0.65	.	12.9805	0.58562	0.0:0.0:0.8377:0.1623	.	485;468;448	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	S	485;448;468;502;446	ENSP00000080059:P485S;ENSP00000351326:P448S;ENSP00000448532:P468S;ENSP00000369984:P502S;ENSP00000404394:P446S	ENSP00000080059:P485S	P	-	1	0	HDAC7	46474815	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	6.763000	0.74955	2.418000	0.82041	0.563000	0.77884	CCT		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			47	223	0	0	0	1	0	47	223					A	48188548	G	A	48188548	3	1	79	1	0	0	0	0	1	0	0	0	7042	1232	43	2	1582	2	HDAC7	12	48188548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2881	48188548	85663347	13235	23552											
HDAC7	51564	broad.mit.edu	37	chr12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagggtatctgccgcagcCggggcttctcactcggcttg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000427332.2	-	12	1352	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R438Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	399	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)			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)		CTGCCGCAGCCGGGGCTTCTC	0.687																																						ENST00000080059.7																			0				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						c.(1312-1314)cGg>cAg		histone deacetylase 7							49	58	55					12																	48188688		2202	4299	6501	SO:0001583	missense	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.chr12:48188688C>T	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.1196G>A	12.37:g.48188688C>T	ENSP00000404394:p.Arg399Gln					HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000427332.2_Missense_Mutation_p.R399Q	p.R438Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1312	-			399			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1313G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397265	0.83120	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.42;0.33;0.43;0.4;0.44	4.5	3.57	0.40892	.	0.664644	0.13526	N	0.381323	T	0.71056	0.3295	L	0.55481	1.735	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70156	-0.4949	10	0.62326	D	0.03	.	12.8923	0.58078	0.1646:0.8354:0.0:0.0	.	438;421;401	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	438;401;421;455;399	ENSP00000080059:R438Q;ENSP00000351326:R401Q;ENSP00000448532:R421Q;ENSP00000369984:R455Q;ENSP00000404394:R399Q	ENSP00000080059:R438Q	R	-	2	0	HDAC7	46474955	0.996000	0.38824	0.995000	0.50966	0.970000	0.65996	3.544000	0.53640	1.122000	0.41944	0.563000	0.77884	CGG		0.687	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			17	745	0	0	0	1	0	17	745					T	48188688	C	T	48188688	3	4	79	1	0	0	0	0	1	0	0	0	7042	652	23	1	1722	1	HDAC7	12	48188688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	48188688	85663207	13236	23553											
VDR	7421	broad.mit.edu	37	chr12	48238712	48238712	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggcgggtggcggcagcgGatgtacgtctgcagtgtgtt	21	7	1	0	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000395324.2	-	10	1369	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000229022.3_Silent_p.I367I|VDR_ENST00000549336.1_Silent_p.I367I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	367	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(1099-1101)atC>atT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						104	113	110					12																	48238712		2203	4299	6502	SO:0001819	synonymous_variant	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238712G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1101C>T	12.37:g.48238712G>A						VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000395324.2_Silent_p.I367I	p.I367I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1382	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	367			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.1101C>T	CCDS8757.1																																																																																				0.632	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			121	593	0	0	0	1	0	121	593					A	48238712	G	A	48238712	2	1	79	1	0	0	0	0	0	0	0	1	17203	1164	41	2		2	VDR	12	48238712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50024	48238712	85613183	13237	23554											
TMEM106C	79022	broad.mit.edu	37	chr12	48359923	48359923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacggtggcagtgaccagcCtgtccagccagattcagtac	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	ENST00000429772.2	+	5	576	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGTGACCAGCCTGTCCAGCCA	0.507																																						ENST00000429772.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14						c.(463-465)Ctg>Atg		transmembrane protein 106C							110	93	99					12																	48359923		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48359923C>A	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.463C>A	12.37:g.48359923C>A	ENSP00000400471:p.Leu155Met					TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M	p.L155M	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	5	576	+		Acute lymphoblastic leukemia(13;0.11)	155					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.463C>A	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.808750|1.808750	0.31961|0.31961	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	4.68|4.68	2.85|2.85	0.33270|0.33270	.|.	0.083089|.	0.49305|.	D|.	0.000153|.	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.59436|0.59436	1.845|1.845	0.42755|0.42755	D|D	0.993789|0.993789	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.72338|.	0.977;0.962|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.49607|.	T|.	0.09|.	-0.3909|-0.3909	13.7439|13.7439	0.62863|0.62863	0.0:0.8537:0.0:0.1463|0.0:0.8537:0.0:0.1463	.|.	155;155|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	M|H	155;155;19;84;155;155;155;84|41	ENSP00000256686:L155M;ENSP00000446657:L155M;ENSP00000446622:L19M;ENSP00000448268:L84M;ENSP00000449737:L155M;ENSP00000400471:L155M;ENSP00000402705:L155M;ENSP00000447254:L84M|.	ENSP00000256686:L155M|.	L|P	+|+	1|2	2|0	TMEM106C|TMEM106C	46646190|46646190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.709000|0.709000	0.25734|0.25734	0.466000|0.466000	0.27193|0.27193	-0.797000|-0.797000	0.03246|0.03246	CTG|CCT		0.507	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		16	291	1	0	3.52763e-06	1	3.62938e-06	16	291					A	48359923	C	A	48359923	3	1	79	1	0	0	0	0	1	0	0	0	16074	680	24	3	477	3	TMEM106C	12	48359923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121211	48359923	85491972	13238	23555											
COL2A1	1280	broad.mit.edu	37	chr12	48371104	48371104	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaattcaggatacttacaGcttctcctctgtctccttgc	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3272C>T	c.(3271-3273)gCt>gTt	p.A1091V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.A1022V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1091	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATACTTACAGCTTCTCCTCT	0.632																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.e46+1		collagen, type II, alpha 1	Collagenase(DB00048)						71	83	79					12																	48371104		2203	4300	6503	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48371104G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3273+1C>T	12.37:g.48371104G>A						COL2A1_ENST00000337299.6_Splice_Site_p.A1022_splice|COL2A1_ENST00000493991.1_5'UTR	p.A1091_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			46	3436	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1091			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	ENST00000380518.3	37	c.3273_splice	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471800	0.63737	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93488	-3.23;-3.23	5.15	5.15	0.70609	.	0.660669	0.14187	N	0.335623	D	0.90676	0.7075	L	0.38838	1.175	0.33794	D	0.62586	B;B	0.25609	0.13;0.079	B;B	0.21546	0.035;0.015	D	0.90927	0.4787	10	0.62326	D	0.03	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	1022;1091	P02458-1;P02458	.;CO2A1_HUMAN	V	1091;1022;1022	ENSP00000369889:A1091V;ENSP00000338213:A1022V	ENSP00000338213:A1022V	A	-	2	0	COL2A1	46657371	0.974000	0.33945	1.000000	0.80357	0.940000	0.58332	5.290000	0.65661	2.401000	0.81631	0.563000	0.77884	GCT		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	Missense_Mutation	9	403	0	0	0	1	0	9	403					A	48371104	G	A	48371104	5	1	79	1	0	0	0	0	0	0	1	0	3696	985	34	2	1227	2	COL2A1	12	48371104	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11181	48371104	85480791	13239	23556											
COL2A1	1280	broad.mit.edu	37	chr12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcacttacatccttgAtgtctccaggttctcctttc	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	112					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(334-336)aTc>aCc		collagen, type II, alpha 1	Collagenase(DB00048)						161	154	156					12																	48391959		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48391959A>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.335T>C	12.37:g.48391959A>G	ENSP00000369889:p.Ile112Thr					COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	p.I112T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			4	499	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	112					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.335T>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153460	0.57259	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.93366	-3.21;-3.21	5.04	5.04	0.67666	.	.	.	.	.	D	0.86867	0.6036	N	0.25286	0.73	0.54753	D	0.999985	P;B	0.36535	0.557;0.421	B;B	0.28305	0.088;0.059	D	0.88114	0.2827	9	0.72032	D	0.01	.	14.0685	0.64847	1.0:0.0:0.0:0.0	.	43;112	P02458-1;P02458	.;CO2A1_HUMAN	T	112;43	ENSP00000369889:I112T;ENSP00000338213:I43T	ENSP00000338213:I43T	I	-	2	0	COL2A1	46678226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.801000	0.91905	2.047000	0.60756	0.454000	0.30748	ATC		0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		80	322	0	0	0	1	0	80	322					G	48391959	A	G	48391959	3	3	79	1	0	0	0	0	1	0	0	0	3696	333	12	4	4332	4	COL2A1	12	48391959	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20855	48391959	85459936	13240	23557											
PFKM	5213	broad.mit.edu	37	chr12	48537573	48537573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaaaagatgaaaacaaCtgtgaaaaggggcttggtgt	14	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48537573C>A	ENST00000312352.7	+	19	1895	c.1856C>A	c.(1855-1857)aCt>aAt	p.T619N	PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000340802.6_Missense_Mutation_p.T690N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	619	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAAAACAACTGTGAAAAGG	0.383																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2068-2070)aCt>aAt		phosphofructokinase, muscle							164	152	156					12																	48537573		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537573C>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1856C>A	12.37:g.48537573C>A	ENSP00000309438:p.Thr619Asn					PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000312352.7_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N	p.T690N	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			21	2293	+			619					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2069C>A	CCDS8760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.897081|2.897081	0.52121|0.52121	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000553055|ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Phosphofructokinase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69115|0.69115	0.3075|0.3075	N|N	0.11724|0.11724	0.165|0.165	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.10296	.|0.003;0.0;0.001	.|B;B;B	.|0.17722	.|0.019;0.009;0.003	T|T	0.64466|0.64466	-0.6401|-0.6401	5|10	.|0.48119	.|T	.|0.1	-5.2747|-5.2747	18.429|18.429	0.90618|0.90618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;619;690	.|P08237-2;P08237;Q6ZTT1	.|.;K6PF_HUMAN;.	K|N	44|690;619;588;588;619;619	.|ENSP00000345771:T690N;ENSP00000352842:T619N;ENSP00000378656:T588N;ENSP00000448177:T588N;ENSP00000449426:T619N;ENSP00000309438:T619N	.|ENSP00000309438:T619N	N|T	+|+	3|2	2|0	PFKM|PFKM	46823840|46823840	0.395000|0.395000	0.25254|0.25254	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.493000|1.493000	0.35605|0.35605	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	AAC|ACT		0.383	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		15	431	1	0	3.52763e-06	1	3.62938e-06	15	431					A	48537573	C	A	48537573	3	1	79	1	0	0	0	0	1	0	0	0	11807	565	20	3	2147	3	PFKM	12	48537573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145614	48537573	85314322	13241	23558											
PFKM	5213	broad.mit.edu	37	chr12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgccactaagatgggcGccaaggctatgaactggatg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000312352.7	+	21	2080	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000340802.6_Missense_Mutation_p.A752T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	681	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAAGATGGGCGCCAAGGCTAT	0.483																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2254-2256)Gcc>Acc		phosphofructokinase, muscle							110	104	106					12																	48538862		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48538862G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2041G>A	12.37:g.48538862G>A	ENSP00000309438:p.Ala681Thr					PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000312352.7_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T	p.A752T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			23	2478	+			681					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2254G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665671	0.88251	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);	0.109437	0.64402	D	0.000008	D	0.84575	0.5502	M	0.79926	2.475	0.80722	D	1	P;P;D	0.60160	0.556;0.849;0.987	B;B;P	0.47941	0.187;0.375;0.562	D	0.83886	0.0282	10	0.30078	T	0.28	-19.231	18.5901	0.91208	0.0:0.0:1.0:0.0	.	650;681;752	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	752;681;650;650;681;681	ENSP00000345771:A752T;ENSP00000352842:A681T;ENSP00000378656:A650T;ENSP00000448177:A650T;ENSP00000449426:A681T;ENSP00000309438:A681T	ENSP00000309438:A681T	A	+	1	0	PFKM	46825129	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.542000	0.67218	2.793000	0.96121	0.655000	0.94253	GCC		0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		54	323	0	0	0	1	0	54	323					A	48538862	G	A	48538862	3	1	79	1	0	0	0	0	1	0	0	0	11807	1087	38	1	2340	1	PFKM	12	48538862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1289	48538862	85313033	13242	23559											
H1FNT	341567	broad.mit.edu	37	chr12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctcccggaggcgccGccagccccttcgcaaggcgg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	158	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(472-474)cGc>cAc		H1 histone family, member N, testis-specific							10	11	11					12																	48723547		2151	4193	6344	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723547G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.473G>A	12.37:g.48723547G>A	ENSP00000334805:p.Arg158His						p.R158H	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	785	+			158			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.473G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714486	0.48622	.	.	ENSG00000187166	ENST00000335017	T	0.18810	2.19	4.83	-1.92	0.07618	.	0.851979	0.09573	N	0.783862	T	0.14399	0.0348	L	0.43152	1.355	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.20739	-1.0266	10	0.52906	T	0.07	-2.4843	6.1284	0.20192	0.238:0.3845:0.3775:0.0	.	158	Q75WM6	H1FNT_HUMAN	H	158	ENSP00000334805:R158H	ENSP00000334805:R158H	R	+	2	0	H1FNT	47009814	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.333000	0.08476	0.650000	0.86243	CGC		0.716	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		17	62	0	0	0	1	0	17	62					A	48723547	G	A	48723547	3	1	79	1	0	0	0	0	1	0	0	0	6951	1087	38	1	475	1	H1FNT	12	48723547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184685	48723547	85128348	13243	23560											
ZNF641	121274	broad.mit.edu	37	chr12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgtccaggtgatgttttCggccaaagctcttctcacag	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	411					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(1231-1233)cGa>cAa		zinc finger protein 641							91	86	87					12																	48736841		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48736841C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1232G>A	12.37:g.48736841C>T	ENSP00000437832:p.Arg411Gln					ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q	p.R411Q			Q96N77	ZN641_HUMAN			6	1940	-			411					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.1232G>A	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859147	0.71834	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.66	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095436	0.47455	D	0.000237	T	0.17492	0.0420	L	0.41415	1.275	0.32144	N	0.585131	P;P	0.44478	0.836;0.496	B;B	0.29716	0.106;0.041	T	0.13229	-1.0517	10	0.07482	T	0.82	.	13.1879	0.59693	0.0:0.918:0.0:0.082	.	388;411	B4DNU5;Q96N77	.;ZN641_HUMAN	Q	411;411;388;397	ENSP00000301042:R411Q;ENSP00000437832:R411Q;ENSP00000394627:R388Q;ENSP00000449974:R397Q	ENSP00000301042:R411Q	R	-	2	0	ZNF641	47023108	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.443000	0.06862	2.824000	0.97209	0.655000	0.94253	CGA		0.562	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		103	486	0	0	0	1	0	103	486					T	48736841	C	T	48736841	3	4	79	1	0	0	0	0	1	0	0	0	18110	884	31	1	88	1	ZNF641	12	48736841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13294	48736841	85115054	13244	23561											
ZNF641	121274	broad.mit.edu	37	chr12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaggggtccaggctccGccactcctcctgagagaagc	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	124	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(370-372)Cgg>Tgg		zinc finger protein 641							81	80	80					12																	48739206		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48739206G>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.370C>T	12.37:g.48739206G>A	ENSP00000437832:p.Arg124Trp					ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W	p.R124W			Q96N77	ZN641_HUMAN			4	1078	-			124			KRAB.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.370C>T	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401740	0.62288	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	5.54	3.57	0.40892	Krueppel-associated box (4);	0.110597	0.40908	D	0.000997	T	0.08179	0.0204	L	0.61387	1.9	0.40170	D	0.977168	D	0.89917	1.0	D	0.67103	0.949	T	0.03706	-1.1011	10	0.66056	D	0.02	.	8.8763	0.35348	0.0:0.2757:0.5714:0.1529	.	124	Q96N77	ZN641_HUMAN	W	124;124;110;124	ENSP00000301042:R124W;ENSP00000437832:R124W;ENSP00000449974:R110W;ENSP00000448810:R124W	ENSP00000301042:R124W	R	-	1	2	ZNF641	47025473	0.930000	0.31532	1.000000	0.80357	0.999000	0.98932	1.077000	0.30741	1.472000	0.48140	0.655000	0.94253	CGG		0.473	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		80	350	0	0	0	1	0	80	350					A	48739206	G	A	48739206	3	1	79	1	0	0	0	0	1	0	0	0	18110	1086	38	1	958	1	ZNF641	12	48739206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2365	48739206	85112689	13245	23562											
ADCY6	112	broad.mit.edu	37	chr12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagttcatcattgcggcGctcccgggccaggaagtggg	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	965					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2893-2895)Cgc>Tgc		adenylate cyclase 6							111	87	95					12																	49165651		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49165651G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2893C>T	12.37:g.49165651G>A	ENSP00000311405:p.Arg965Cys					ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C|ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C	p.R965C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			18	3587	-			965					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.2893C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697873	0.88830	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80909	-1.39;-1.39;-1.43	5.74	5.74	0.90152	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68943	0.943;0.961;0.886	D	0.92549	0.6048	10	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	196;912;965	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	C	912;912;965	ENSP00000350536:R912C;ENSP00000446730:R912C;ENSP00000311405:R965C	ENSP00000311405:R965C	R	-	1	0	ADCY6	47451918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.884000	0.98904	0.655000	0.94253	CGC		0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		38	405	0	0	0	1	0	38	405					A	49165651	G	A	49165651	3	1	79	1	0	0	0	0	1	0	0	0	298	1087	38	1	629	1	ADCY6	12	49165651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426445	49165651	84686244	13246	23563											
ADCY6	112	broad.mit.edu	37	chr12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcactgcttacgagatgGcctcaatcatgtctaccccc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	457					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1369-1371)gCc>gTc		adenylate cyclase 6							170	157	161					12																	49170893		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170893G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1370C>T	12.37:g.49170893G>A	ENSP00000311405:p.Ala457Val					ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V	p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			5	2064	-			457					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1370C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878374	0.91740	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.87541	0.6203	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.909;0.995	D	0.88938	0.3378	10	0.87932	D	0	.	16.3463	0.83134	0.0:0.0:1.0:0.0	.	457;457	O43306-2;O43306	.;ADCY6_HUMAN	V	457	ENSP00000350536:A457V;ENSP00000446730:A457V;ENSP00000311405:A457V	ENSP00000311405:A457V	A	-	2	0	ADCY6	47457160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.451000	0.82905	0.561000	0.74099	GCC		0.557	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		215	770	0	0	0	1	0	215	770					A	49170893	G	A	49170893	3	1	79	1	0	0	0	0	1	0	0	0	298	1203	42	2	2204	2	ADCY6	12	49170893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	49170893	84681002	13247	23564											
RND1	27289	broad.mit.edu	37	chr12	49255902	49255902	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attatcgtagtagggagatcCtggtgtaggccagaaagagc	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522																																						ENST00000309739.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						c.e3-1		Rho family GTPase 1							136	116	122					12																	49255902		2203	4300	6503	SO:0001630	splice_region_variant	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49255902C>A	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.209-1G>T	12.37:g.49255902C>A								NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN			3	339	-								A8K9P7	Splice_Site	SNP	ENST00000309739.5	37		CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058756	0.93846	.	.	ENSG00000172602	ENST00000309739	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RND1	47542169	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	.		0.522	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	Intron	32	130	1	0	2.80507e-11	1	2.99019e-11	32	130					A	49255902	C	A	49255902	5	1	79	1	0	0	0	0	0	0	1	0	13469	695	24	3	502	3	RND1	12	49255902	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85009	49255902	84595993	13248	23565											
CCDC65	85478	broad.mit.edu	37	chr12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcctaagaaagaaaaAatggccaagacgcccctgtc	8	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000320516.4	+	1	206	c.18A>C	c.(16-18)aaA>aaC	p.K6N	CCDC65_ENST00000266984.5_Missense_Mutation_p.K6N|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(16-18)aaA>aaC		coiled-coil domain containing 65							92	101	98					12																	49298137		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49298137A>C		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.18A>C	12.37:g.49298137A>C	ENSP00000312706:p.Lys6Asn		OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K6N	p.K6N			Q8IXS2	CCD65_HUMAN			1	245	+			6					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.18A>C	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338442	0.41398	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.62941	0.79;-0.01;0.85	5.06	1.45	0.22620	.	0.052686	0.64402	D	0.000001	T	0.61974	0.2390	M	0.71581	2.175	0.38560	D	0.949689	P	0.40731	0.728	P	0.44359	0.447	T	0.63292	-0.6670	10	0.66056	D	0.02	-17.724	8.3444	0.32263	0.6786:0.0:0.3214:0.0	.	6	Q8IXS2	CCD65_HUMAN	N	6	ENSP00000266984:K6N;ENSP00000446569:K6N;ENSP00000312706:K6N	ENSP00000266984:K6N	K	+	3	2	CCDC65	47584404	1.000000	0.71417	0.997000	0.53966	0.136000	0.21042	0.566000	0.23593	0.156000	0.19299	-0.274000	0.10170	AAA		0.537	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		131	666	0	0	0	1	0	131	666					C	49298137	A	C	49298137	3	2	79	1	0	0	0	0	1	0	0	0	2844	11	1	4	20	4	CCDC65	12	49298137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42235	49298137	84553758	13249	23566											
CCDC65	85478	broad.mit.edu	37	chr12	49312057	49312057	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattttggggtcacttgctaGaatttagaagagaagcactt	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000320516.4	+	5	797		c.e5-1		CCDC65_ENST00000266984.5_Splice_Site|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.e5-1		coiled-coil domain containing 65							92	94	93					12																	49312057		2203	4300	6503	SO:0001630	splice_region_variant	85478							g.chr12:49312057G>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.610-1G>T	12.37:g.49312057G>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Splice_Site				Q8IXS2	CCD65_HUMAN			5	836	+								A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Splice_Site	SNP	ENST00000320516.4	37		CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698104	0.68386	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC65	47598324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.003000	0.76310	2.677000	0.91161	0.655000	0.94253	.		0.413	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124	Intron	73	402	1	0	4.37588e-27	1	5.05892e-27	73	402					T	49312057	G	T	49312057	5	4	79	1	0	0	0	0	0	0	1	0	2844	956	33	3	627	3	CCDC65	12	49312057	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13920	49312057	84539838	13250	23567											
CCDC65	85478	broad.mit.edu	37	chr12	49312112	49312112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagaacagagtagaagatCtgtggagaaagttccaggat	14	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000320516.4	+	5	852	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CCDC65_ENST00000266984.5_Silent_p.L222L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(664-666)Ctg>Ttg		coiled-coil domain containing 65							125	124	124					12																	49312112		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49312112C>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.664C>T	12.37:g.49312112C>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L222L	p.L222L			Q8IXS2	CCD65_HUMAN			5	891	+			222					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.664C>T	CCDS8772.1																																																																																				0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		105	426	0	0	0	1	0	105	426					T	49312112	C	T	49312112	2	4	79	1	0	0	0	0	0	0	0	1	2844	912	32	2		2	CCDC65	12	49312112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	49312112	84539783	13251	23568											
CCDC65	85478	broad.mit.edu	37	chr12	49314776	49314776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgaagaagaaaaagtgCtgcctttttattcatcagta	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000320516.4	+	7	1278	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CCDC65_ENST00000266984.5_Silent_p.L364L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1090-1092)Ctg>Ttg		coiled-coil domain containing 65							59	64	62					12																	49314776		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49314776C>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1090C>T	12.37:g.49314776C>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L364L	p.L364L			Q8IXS2	CCD65_HUMAN			7	1317	+			364					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.1090C>T	CCDS8772.1																																																																																				0.403	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		44	276	0	0	0	1	0	44	276					T	49314776	C	T	49314776	2	4	79	1	0	0	0	0	0	0	0	1	2844	796	28	2		2	CCDC65	12	49314776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2664	49314776	84537119	13252	23569											
WNT1	7471	broad.mit.edu	37	chr12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaagagtctgcaactgGtactcgagcccagtctgcag	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	56					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(166-168)Gta>Ata		wingless-type MMTV integration site family, member 1							77	75	76					12																	49373312		2203	4300	6503	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373312G>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.166G>A	12.37:g.49373312G>A	ENSP00000293549:p.Val56Ile						p.V56I	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	202	+			56					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.166G>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360417	0.24598	.	.	ENSG00000125084	ENST00000293549	T	0.75938	-0.98	4.84	4.84	0.62591	.	0.660669	0.12351	U	0.476582	T	0.56499	0.1989	N	0.08118	0	0.58432	D	0.999994	B	0.20780	0.048	B	0.19666	0.026	T	0.49615	-0.8921	10	0.10636	T	0.68	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	56	P04628	WNT1_HUMAN	I	56	ENSP00000293549:V56I	ENSP00000293549:V56I	V	+	1	0	WNT1	47659579	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.254000	0.78329	2.501000	0.84356	0.655000	0.94253	GTA		0.582	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			92	431	0	0	0	1	0	92	431					A	49373312	G	A	49373312	3	1	79	1	0	0	0	0	1	0	0	0	17435	1261	44	2	172	2	WNT1	12	49373312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58536	49373312	84478583	13253	23570											
DDN	23109	broad.mit.edu	37	chr12	49391399	49391399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtctccggtcctgccccCtctccaagacccagagattc	9	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49391399C>T	ENST00000421952.2	-	2	1281	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	420	Interaction with ACTN1.|Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTCCTGCCCCCTCTCCAAGAC	0.672																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1258-1260)gaG>gaA		dendrin							32	36	34					12																	49391399		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391399C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1260G>A	12.37:g.49391399C>T							p.E420E	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1281	-			420			Interaction with ACTN1.|Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1260G>A	CCDS31791.2																																																																																				0.672	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			9	313	0	0	0	1	0	9	313					T	49391399	C	T	49391399	2	4	79	1	0	0	0	0	0	0	0	1	4344	680	24	2		2	DDN	12	49391399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18087	49391399	84460496	13254	23571											
DDN	23109	broad.mit.edu	37	chr12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgccgacctccccagGgccccgcccacgccgaccct	11	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	192	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(574-576)cCc>cTc		dendrin							5	7	6					12																	49392084		1593	3394	4987	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392084G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.575C>T	12.37:g.49392084G>A	ENSP00000390590:p.Pro192Leu						p.P192L	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	596	-			192			Interaction with MAGI2.			Missense_Mutation	SNP	ENST00000421952.2	37	c.575C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063238	0.08388	.	.	ENSG00000181418	ENST00000421952	T	0.40476	1.03	3.56	2.66	0.31614	.	0.356051	0.20815	N	0.085168	T	0.34106	0.0886	L	0.27053	0.805	0.45161	D	0.998172	P	0.51351	0.944	P	0.47470	0.548	T	0.15954	-1.0419	10	0.72032	D	0.01	-5.7798	9.1059	0.36698	0.0:0.2233:0.7767:0.0	.	192	O94850	DEND_HUMAN	L	192	ENSP00000390590:P192L	ENSP00000390590:P192L	P	-	2	0	DDN	47678351	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.460000	0.35244	1.077000	0.40990	0.561000	0.74099	CCC		0.781	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	81	0	0	0	1	0	27	81					A	49392084	G	A	49392084	3	1	79	1	0	0	0	0	1	0	0	0	4344	1232	43	2	1564	2	DDN	12	49392084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	49392084	84459811	13255	23572											
MLL2	8085	broad.mit.edu	37	chr12	49416497	49416497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccccaggccctggataCgggagcgagccaggtacacg	15	13	0	1	rs566674356		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49416497C>T	ENST00000301067.7	-	51	16213	c.16214G>A	c.(16213-16215)cGt>cAt	p.R5405H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5405	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCCTGGATACGGGAGCGAGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20205	0.0		0.0	False		,,,				2504	0.001					ENST00000301067.7																			0											c.(16213-16215)cGt>cAt		lysine (K)-specific methyltransferase 2D							123	132	129					12																	49416497		2040	4182	6222	SO:0001583	missense	8085							g.chr12:49416497C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16214G>A	12.37:g.49416497C>T	ENSP00000301067:p.Arg5405His						p.R5405H	NM_003482.3	NP_003473.3					51	16213	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16214G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901571	0.52227	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.86432	-2.12;-2.12	5.09	5.09	0.68999	SET domain (2);	0.000000	0.36167	N	0.002742	D	0.92753	0.7696	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93407	0.6765	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5405	O14686	MLL2_HUMAN	H	5405;86	ENSP00000301067:R5405H;ENSP00000435714:R86H	ENSP00000301067:R5405H	R	-	2	0	MLL2	47702764	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	5.980000	0.70516	2.546000	0.85860	0.591000	0.81541	CGT		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			115	551	0	0	0	1	0	115	551					T	49416497	C	T	49416497	3	4	79	1	0	0	0	0	1	0	0	0	9662	536	19	1	415	1	MLL2	12	49416497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24413	49416497	84435398	13256	23573											
MLL2	8085	broad.mit.edu	37	chr12	49420094	49420094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgacgattgttggtgcggaGgctccaatagatgcgcgtgg	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420094G>T	ENST00000301067.7	-	48	15654	c.15655C>A	c.(15655-15657)Ctc>Atc	p.L5219I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5219	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGGTGCGGAGGCTCCAATAG	0.582																																						ENST00000301067.7																			0											c.(15655-15657)Ctc>Atc		lysine (K)-specific methyltransferase 2D							54	58	57					12																	49420094		2065	4199	6264	SO:0001583	missense	8085							g.chr12:49420094G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15655C>A	12.37:g.49420094G>T	ENSP00000301067:p.Leu5219Ile						p.L5219I	NM_003482.3	NP_003473.3					48	15654	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15655C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566172	0.27915	.	.	ENSG00000167548	ENST00000301067	T	0.76839	-1.05	5.12	3.2	0.36748	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.33180	N	0.005184	T	0.62146	0.2404	N	0.11560	0.145	0.25193	N	0.99012	P	0.49559	0.925	P	0.48270	0.572	T	0.56703	-0.7935	10	0.87932	D	0	.	5.1841	0.15174	0.1356:0.0:0.5375:0.327	.	5219	O14686	MLL2_HUMAN	I	5219	ENSP00000301067:L5219I	ENSP00000301067:L5219I	L	-	1	0	MLL2	47706361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.914000	0.39966	1.254000	0.44035	0.655000	0.94253	CTC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			51	278	1	0	2.29192e-23	1	2.60423e-23	51	278					T	49420094	G	T	49420094	3	4	79	1	0	0	0	0	1	0	0	0	9662	1000	35	3	986	3	MLL2	12	49420094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3597	49420094	84431801	13257	23574											
MLL2	8085	broad.mit.edu	37	chr12	49420396	49420396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcacttggcacggatgGcacaagcaaaatggtagaca	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420396G>A	ENST00000301067.7	-	48	15352	c.15353C>T	c.(15352-15354)gCc>gTc	p.A5118V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5118					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCACGGATGGCACAAGCAAA	0.542																																						ENST00000301067.7																			0											c.(15352-15354)gCc>gTc		lysine (K)-specific methyltransferase 2D							79	80	80					12																	49420396		2156	4248	6404	SO:0001583	missense	8085							g.chr12:49420396G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15353C>T	12.37:g.49420396G>A	ENSP00000301067:p.Ala5118Val						p.A5118V	NM_003482.3	NP_003473.3					48	15352	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15353C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765300	0.49574	.	.	ENSG00000167548	ENST00000301067	T	0.75589	-0.95	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.36591	N	0.002511	D	0.89012	0.6594	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91662	0.5343	10	0.87932	D	0	.	16.9322	0.86193	0.0:0.0:1.0:0.0	.	5118	O14686	MLL2_HUMAN	V	5118	ENSP00000301067:A5118V	ENSP00000301067:A5118V	A	-	2	0	MLL2	47706663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	GCC		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			74	316	0	0	0	1	0	74	316					A	49420396	G	A	49420396	3	1	79	1	0	0	0	0	1	0	0	0	9662	1203	42	2	1288	2	MLL2	12	49420396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	49420396	84431499	13258	23575											
MLL2	8085	broad.mit.edu	37	chr12	49420873	49420873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacggggcttgggtcggGctgattcaggggatgaggcc	21	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420873G>A	ENST00000301067.7	-	48	14875	c.14876C>T	c.(14875-14877)gCc>gTc	p.A4959V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4959	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTTGGGTCGGGCTGATTCAGG	0.637																																						ENST00000301067.7																			0											c.(14875-14877)gCc>gTc		lysine (K)-specific methyltransferase 2D							52	60	57					12																	49420873		1928	4139	6067	SO:0001583	missense	8085							g.chr12:49420873G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14876C>T	12.37:g.49420873G>A	ENSP00000301067:p.Ala4959Val						p.A4959V	NM_003482.3	NP_003473.3					48	14875	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14876C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030638	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	4.09	4.09	0.47781	.	0.747332	0.11023	N	0.608118	T	0.58722	0.2142	N	0.02315	-0.6	0.36216	D	0.851678	B	0.20052	0.041	B	0.14023	0.01	T	0.61347	-0.7081	10	0.87932	D	0	.	15.6199	0.76799	0.0:0.0:1.0:0.0	.	4959	O14686	MLL2_HUMAN	V	4959	ENSP00000301067:A4959V	ENSP00000301067:A4959V	A	-	2	0	MLL2	47707140	1.000000	0.71417	0.928000	0.36995	0.966000	0.64601	6.688000	0.74557	2.288000	0.76882	0.557000	0.71058	GCC		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			84	466	0	0	0	1	0	84	466					A	49420873	G	A	49420873	3	1	79	1	0	0	0	0	1	0	0	0	9662	1203	42	2	1765	2	MLL2	12	49420873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477	49420873	84431022	13259	23576											
MLL2	8085	broad.mit.edu	37	chr12	49421001	49421001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccaagggggaagggggCggggagggttcttcaggagg	24	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49421001C>T	ENST00000301067.7	-	48	14747	c.14748G>A	c.(14746-14748)ccG>ccA	p.P4916P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4916	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P4916P(1)|p.P4646P(1)									GGGAAGGGGGCGGGGAGGGTT	0.637																																						ENST00000301067.7																			2	Substitution - coding silent(2)	p.P4916P(1)|p.P4646P(1)	endometrium(2)								c.(14746-14748)ccG>ccA		lysine (K)-specific methyltransferase 2D							41	47	45					12																	49421001		1861	4058	5919	SO:0001819	synonymous_variant	8085							g.chr12:49421001C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14748G>A	12.37:g.49421001C>T							p.P4916P	NM_003482.3	NP_003473.3					48	14747	-								O14687	Silent	SNP	ENST00000301067.7	37	c.14748G>A	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			72	350	0	0	0	1	0	72	350					T	49421001	C	T	49421001	2	4	79	1	0	0	0	0	0	0	0	1	9662	755	27	1		1	MLL2	12	49421001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	49421001	84430894	13260	23577											
MLL2	8085	broad.mit.edu	37	chr12	49425501	49425501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgggcctcagtgggaagCtgggagctgggggaaggtaa	20	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49425501C>A	ENST00000301067.7	-	39	12986	c.12987G>T	c.(12985-12987)caG>caT	p.Q4329H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4329	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGTGGGAAGCTGGGAGCTGG	0.622																																						ENST00000301067.7																			0											c.(12985-12987)caG>caT		lysine (K)-specific methyltransferase 2D							49	51	51					12																	49425501		1941	4130	6071	SO:0001583	missense	8085							g.chr12:49425501C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12987G>T	12.37:g.49425501C>A	ENSP00000301067:p.Gln4329His						p.Q4329H	NM_003482.3	NP_003473.3					39	12986	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12987G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571327	0.03882	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	3.22	2.31	0.28768	.	.	.	.	.	T	0.70491	0.3230	N	0.19112	0.55	0.18873	N	0.999982	D	0.56521	0.976	P	0.47528	0.549	T	0.61023	-0.7146	9	0.87932	D	0	.	7.0017	0.24813	0.0:0.7695:0.0:0.2305	.	4329	O14686	MLL2_HUMAN	H	4329	ENSP00000301067:Q4329H	ENSP00000301067:Q4329H	Q	-	3	2	MLL2	47711768	0.010000	0.17322	0.994000	0.49952	0.717000	0.41224	-0.029000	0.12329	0.653000	0.30826	0.655000	0.94253	CAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	87	1	0	2.39187e-15	1	2.61288e-15	19	87					A	49425501	C	A	49425501	3	1	79	1	0	0	0	0	1	0	0	0	9662	796	28	3	3690	3	MLL2	12	49425501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4500	49425501	84426394	13261	23578											
MLL2	8085	broad.mit.edu	37	chr12	49427246	49427246	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggattgccacctgtcctaGaaggtgctgctgctgctgtt	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49427246G>T	ENST00000301067.7	-	39	11241	c.11242C>A	c.(11242-11244)Cta>Ata	p.L3748I	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3748	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCTGTCCTAGAAGGtgctgc	0.592																																						ENST00000301067.7																			0											c.(11242-11244)Cta>Ata		lysine (K)-specific methyltransferase 2D							15	18	17					12																	49427246		2195	4294	6489	SO:0001583	missense	8085							g.chr12:49427246G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11242C>A	12.37:g.49427246G>T	ENSP00000301067:p.Leu3748Ile						p.L3748I	NM_003482.3	NP_003473.3					39	11241	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.11242C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235574	0.05944	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.11	1.11	0.20524	.	0.000000	0.26895	N	0.021956	T	0.51126	0.1656	N	0.08118	0	0.19775	N	0.999956	P	0.39551	0.678	B	0.33690	0.168	T	0.51012	-0.8759	10	0.87932	D	0	.	5.7073	0.17915	0.3226:0.0:0.5478:0.1296	.	3748	O14686	MLL2_HUMAN	I	3748	ENSP00000301067:L3748I	ENSP00000301067:L3748I	L	-	1	2	MLL2	47713513	0.989000	0.36119	0.992000	0.48379	0.380000	0.30137	1.554000	0.36266	0.263000	0.21812	0.462000	0.41574	CTA		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	80	1	0	6.31663e-08	1	6.57865e-08	16	80					T	49427246	G	T	49427246	3	4	79	1	0	0	0	0	1	0	0	0	9662	933	33	3	5435	3	MLL2	12	49427246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1745	49427246	84424649	13262	23579											
MLL2	8085	broad.mit.edu	37	chr12	49435265	49435265	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtagggccggtcggtcagtCttacgggctatgtcgcccac	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49435265C>A	ENST00000301067.7	-	31	6287	c.6288G>T	c.(6286-6288)aaG>aaT	p.K2096N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2096					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCGGTCAGTCTTACGGGCTA	0.657																																						ENST00000301067.7																			0											c.(6286-6288)aaG>aaT		lysine (K)-specific methyltransferase 2D							57	63	61					12																	49435265		2055	4190	6245	SO:0001583	missense	8085							g.chr12:49435265C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6288G>T	12.37:g.49435265C>A	ENSP00000301067:p.Lys2096Asn						p.K2096N	NM_003482.3	NP_003473.3					31	6287	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6288G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	7.579	0.668346	0.14776	.	.	ENSG00000167548	ENST00000301067	T	0.80480	-1.38	4.14	4.14	0.48551	.	0.000000	0.34484	N	0.003932	T	0.65123	0.2661	N	0.14661	0.345	0.28783	N	0.899755	P	0.48230	0.907	B	0.41036	0.346	T	0.66548	-0.5896	10	0.87932	D	0	.	9.9782	0.41797	0.0:0.9031:0.0:0.0969	.	2096	O14686	MLL2_HUMAN	N	2096	ENSP00000301067:K2096N	ENSP00000301067:K2096N	K	-	3	2	MLL2	47721532	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.913000	0.28611	2.599000	0.87857	0.561000	0.74099	AAG		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			46	305	1	0	2.13384e-23	1	2.42615e-23	46	305					A	49435265	C	A	49435265	3	1	79	1	0	0	0	0	1	0	0	0	9662	912	32	3	10421	3	MLL2	12	49435265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8019	49435265	84416630	13263	23580											
MLL2	8085	broad.mit.edu	37	chr12	49444835	49444835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaacaagggcagctcctcAggtgcagggcattggcctgg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49444835A>G	ENST00000301067.7	-	10	2630	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	877	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGCTCCTCAGGTGCAGGGC	0.642																																						ENST00000301067.7																			0											c.(2629-2631)ccT>ccC		lysine (K)-specific methyltransferase 2D							49	55	53					12																	49444835		1974	4171	6145	SO:0001819	synonymous_variant	8085							g.chr12:49444835A>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2631T>C	12.37:g.49444835A>G							p.P877P	NM_003482.3	NP_003473.3					10	2630	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2631T>C	CCDS44873.1																																																																																				0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			94	388	0	0	0	1	0	94	388					G	49444835	A	G	49444835	2	3	79	1	0	0	0	0	0	0	0	1	9662	175	7	4		4	MLL2	12	49444835	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9570	49444835	84407060	13264	23581											
MLL2	8085	broad.mit.edu	37	chr12	49446131	49446131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggacaggggtgactcCtcaggtgggggcagcagtgg	22	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49446131C>A	ENST00000301067.7	-	10	1334	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	445	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGTGACTCCTCAGGTGGGG	0.622																																						ENST00000301067.7																			0											c.(1333-1335)gaG>gaT		lysine (K)-specific methyltransferase 2D							51	56	54					12																	49446131		2138	4218	6356	SO:0001583	missense	8085							g.chr12:49446131C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1335G>T	12.37:g.49446131C>A	ENSP00000301067:p.Glu445Asp						p.E445D	NM_003482.3	NP_003473.3					10	1334	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1335G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224539	0.22457	.	.	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	4.61	1.78	0.24846	.	.	.	.	.	T	0.56775	0.2008	N	0.08118	0	0.19775	N	0.999958	D	0.53885	0.963	B	0.40940	0.344	T	0.50882	-0.8775	9	0.87932	D	0	.	7.8762	0.29595	0.0:0.7198:0.0:0.2802	.	445	O14686	MLL2_HUMAN	D	445	ENSP00000301067:E445D	ENSP00000301067:E445D	E	-	3	2	MLL2	47732398	0.642000	0.27260	0.999000	0.59377	0.963000	0.63663	0.123000	0.15708	0.190000	0.20209	0.313000	0.20887	GAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	324	1	0	1.08611e-07	1	1.12939e-07	11	324					A	49446131	C	A	49446131	3	1	79	1	0	0	0	0	1	0	0	0	9662	680	24	3	15458	3	MLL2	12	49446131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1296	49446131	84405764	13265	23582											
DHH	50846	broad.mit.edu	37	chr12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacggcaatggccaaagCgttcacccgctccttacaac	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	109					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(325-327)Gct>Act		desert hedgehog							86	67	73					12																	49485151		2203	4300	6503	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485151C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.325G>A	12.37:g.49485151C>T	ENSP00000266991:p.Ala109Thr					RP11-386G11.8_ENST00000553174.1_RNA	p.A109T	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	631	-			109					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.325G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980759	0.34942	.	.	ENSG00000139549	ENST00000266991	D	0.99418	-5.87	5.12	5.12	0.69794	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.173927	0.50627	D	0.000109	D	0.96027	0.8706	N	0.00873	-1.125	0.46954	D	0.99926	D	0.67145	0.996	P	0.47705	0.555	D	0.95758	0.8798	10	0.08381	T	0.77	0.4377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	109	O43323	DHH_HUMAN	T	109	ENSP00000266991:A109T	ENSP00000266991:A109T	A	-	1	0	DHH	47771418	0.993000	0.37304	0.998000	0.56505	0.593000	0.36681	1.178000	0.31981	2.564000	0.86499	0.650000	0.86243	GCT		0.587	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		38	160	0	0	0	1	0	38	160					T	49485151	C	T	49485151	3	4	79	1	0	0	0	0	1	0	0	0	4499	768	27	1	873	1	DHH	12	49485151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39020	49485151	84366744	13266	23583											
DHH	50846	broad.mit.edu	37	chr12	49488219	49488219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccaaccggcccccggCccggcccgcagctctgggct	14	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	ENST00000266991.2	-	1	383	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	26					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						cggcccccggcccggcccgcA	0.682																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(76-78)gGc>gAc		desert hedgehog							5	7	6					12																	49488219		1962	3844	5806	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488219C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.77G>A	12.37:g.49488219C>T	ENSP00000266991:p.Gly26Asp						p.G26D	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			1	383	-			26					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.77G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859706	0.91433	.	.	ENSG00000139549	ENST00000266991	D	0.99727	-6.55	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97099	0.9796	10	0.87932	D	0	.	17.4475	0.87583	0.0:1.0:0.0:0.0	.	26	O43323	DHH_HUMAN	D	26	ENSP00000266991:G26D	ENSP00000266991:G26D	G	-	2	0	DHH	47774486	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.547000	0.67249	2.422000	0.82143	0.456000	0.33151	GGC		0.682	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		21	109	0	0	0	1	0	21	109					T	49488219	C	T	49488219	3	4	79	1	0	0	0	0	1	0	0	0	4499	739	26	2	1125	2	DHH	12	49488219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49488219	84363676	13267	23584											
TUBA1A	7846	broad.mit.edu	37	chr12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacaaactggatggtaCgcttggtcttgatggtggca	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000295766.5	-	4	1495	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTGGATGGTACGCTTGGTCTT	0.552																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(1015-1017)cGt>cAt		tubulin, alpha 1a							114	92	100					12																	49579133		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579133C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1016G>A	12.37:g.49579133C>T	ENSP00000439020:p.Arg339His					TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H|TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339H	p.R339H	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1360	-			339					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1016G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086823	0.36855	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	D	0.84226	0.0464	10	0.87932	D	0	.	17.3657	0.87363	0.0:1.0:0.0:0.0	.	339	Q71U36	TBA1A_HUMAN	H	339;186;339;304	ENSP00000301071:R339H;ENSP00000439020:R339H;ENSP00000446637:R304H	ENSP00000439020:R339H	R	-	2	0	TUBA1A	47865400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.565000	0.67365	2.391000	0.81399	0.556000	0.70494	CGT		0.552	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		89	369	0	0	0	1	0	89	369					T	49579133	C	T	49579133	3	4	79	1	0	0	0	0	1	0	0	0	16797	536	19	1	343	1	TUBA1A	12	49579133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90914	49579133	84272762	13268	23585											
PRPH	5630	broad.mit.edu	37	chr12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaacgtcaagatggccctgGacatcgagatcgccacctac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257860.4																			0				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1168-1170)Gac>Tac		peripherin							32	34	33					12																	49691311		2202	4300	6502	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691311G>T		CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1168G>T	12.37:g.49691311G>T	ENSP00000257860:p.Asp390Tyr		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RP11-161H23.9_ENST00000553259.1_RNA	p.D390Y	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			6	2667	+			390			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1168G>T	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.270856|5.270856	0.95429|0.95429	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91740|.	-2.9|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Filament (1);|.	0.000000|.	0.35936|.	N|.	0.002898|.	D|D	0.91112|0.91112	0.7202|0.7202	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	P|.	0.41450|.	0.75|.	P|.	0.48738|.	0.588|.	D|D	0.94583|0.94583	0.7781|0.7781	10|5	0.87932|.	D|.	0|.	.|.	18.1164|18.1164	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390|.	P41219|.	PERI_HUMAN|.	Y|V	390|118	ENSP00000257860:D390Y|.	ENSP00000257860:D390Y|.	D|G	+|+	1|2	0|0	PRPH|PRPH	47977578|47977578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.797000|9.797000	0.99108|0.99108	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.692	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		37	275	1	0	2.2871e-25	1	2.62398e-25	37	275					T	49691311	G	T	49691311	3	4	79	1	0	0	0	0	1	0	0	0	12623	1174	41	3	1190	3	PRPH	12	49691311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112178	49691311	84160584	13269	23586											
TROAP	10024	broad.mit.edu	37	chr12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgccagcctagtctgGctaaaagagtactggttcga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000257909.3	+	4	518	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Missense_Mutation_p.A148T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	148					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				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						GCCTAGTCTGGCTAAAAGAGT	0.597																																						ENST00000551245.1																			0				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						c.(442-444)Gct>Act		trophinin associated protein							54	59	57					12																	49719388		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49719388G>A	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.442G>A	12.37:g.49719388G>A	ENSP00000257909:p.Ala148Thr					TROAP_ENST00000257909.3_Missense_Mutation_p.A148T	p.A148T			Q12815	TROAP_HUMAN			4	553	+			148					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.442G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532898	0.85812	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547807	T;T;T	0.21932	1.98;1.98;1.98	5.37	4.48	0.54585	.	0.000000	0.53938	D	0.000047	T	0.36441	0.0967	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.969	T	0.10222	-1.0639	10	0.87932	D	0	-10.8552	10.2384	0.43297	0.0915:0.0:0.9085:0.0	.	148;148	F8W130;Q12815	.;TROAP_HUMAN	T	148	ENSP00000447509:A148T;ENSP00000257909:A148T;ENSP00000446646:A148T	ENSP00000257909:A148T	A	+	1	0	TROAP	48005655	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.930000	0.63462	1.253000	0.44018	0.655000	0.94253	GCT		0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		48	326	0	0	0	1	0	48	326					A	49719388	G	A	49719388	3	1	79	1	0	0	0	0	1	0	0	0	16628	1203	42	2	554	2	TROAP	12	49719388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28077	49719388	84132507	13270	23587											
DNAJC22	79962	broad.mit.edu	37	chr12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctgctgttggcaaccaGacctcagactttaagaacac	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	127						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(379-381)caG>caT		DnaJ (Hsp40) homolog, subfamily C, member 22							127	121	123					12																	49743036		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743036G>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.381G>T	12.37:g.49743036G>T	ENSP00000446830:p.Gln127His					DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H	p.Q127H			Q8N4W6	DJC22_HUMAN			3	1585	+			127					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.381G>T	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468563	0.63625	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.64997	1.995	0.49299	D	0.999776	D	0.89917	1.0	D	0.85130	0.997	T	0.60271	-0.7296	10	0.87932	D	0	-12.8666	7.8686	0.29552	0.1798:0.0:0.8202:0.0	.	127	Q8N4W6	DJC22_HUMAN	H	127	ENSP00000446830:Q127H;ENSP00000378508:Q127H	ENSP00000378508:Q127H	Q	+	3	2	DNAJC22	48029303	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.927000	0.63440	2.399000	0.81585	0.561000	0.74099	CAG		0.532	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		173	755	1	0	5.63857e-76	1	7.19304e-76	173	755					T	49743036	G	T	49743036	3	4	79	1	0	0	0	0	1	0	0	0	4657	933	33	3	383	3	DNAJC22	12	49743036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23648	49743036	84108859	13271	23588											
SPATS2	65244	broad.mit.edu	37	chr12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactgtgtggacaaaacaGtacaagcattcatggaaggt	10	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	66						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(196-198)Gta>Tta		spermatogenesis associated, serine-rich 2							116	102	107					12																	49883338		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49883338G>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.196G>T	12.37:g.49883338G>T	ENSP00000448228:p.Val66Leu					SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L	p.V66L			Q86XZ4	SPAS2_HUMAN			6	709	+			66					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.196G>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094313	0.76870	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.53249	1.67	0.80722	D	1	P	0.34800	0.469	B	0.28385	0.089	T	0.58891	-0.7556	9	0.72032	D	0.01	-4.6616	16.5539	0.84479	0.0:0.0:1.0:0.0	.	66	Q86XZ4	SPAS2_HUMAN	L	66	.	ENSP00000326841:V66L	V	+	1	0	SPATS2	48169605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GTA		0.323	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		38	214	1	0	3.61848e-18	1	4.01023e-18	38	214					T	49883338	G	T	49883338	3	4	79	1	0	0	0	0	1	0	0	0	15071	1029	36	3	206	3	SPATS2	12	49883338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	49883338	83968557	13272	23589											
SPATS2	65244	broad.mit.edu	37	chr12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgcacagtgtctcttGcacggtatcgagttgtagtt	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	253						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(757-759)Gca>Aca		spermatogenesis associated, serine-rich 2							69	69	69					12																	49893906		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49893906G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.757G>A	12.37:g.49893906G>A	ENSP00000448228:p.Ala253Thr					SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T	p.A253T			Q86XZ4	SPAS2_HUMAN			10	1270	+			253					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.757G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018060	0.35606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	6.08	6.08	0.98989	.	0.091847	0.85682	D	0.000000	T	0.62514	0.2434	L	0.33792	1.035	0.80722	D	1	D	0.57899	0.981	D	0.65874	0.939	T	0.52253	-0.8600	9	0.05721	T	0.95	-16.3228	18.1659	0.89727	0.0:0.0:1.0:0.0	.	253	Q86XZ4	SPAS2_HUMAN	T	253	.	ENSP00000326841:A253T	A	+	1	0	SPATS2	48180173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.894000	0.99253	0.591000	0.81541	GCA		0.353	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		54	241	0	0	0	1	0	54	241					A	49893906	G	A	49893906	3	1	79	1	0	0	0	0	1	0	0	0	15071	1319	46	2	783	2	SPATS2	12	49893906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10568	49893906	83957989	13273	23590											
KCNH3	23416	broad.mit.edu	37	chr12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggacaccatcgctaCgcgcttcgacggcacgcgtg	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	20	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATCGCTACGCGCTTCGAC	0.746																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(58-60)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 3							24	24	24					12																	49933258		2203	4298	6501	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49933258C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.59C>T	12.37:g.49933258C>T	ENSP00000257981:p.Thr20Met						p.T20M	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			1	319	+			20			PAS.		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.59C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969310	0.74246	.	.	ENSG00000135519	ENST00000257981	D	0.98762	-5.12	3.49	3.49	0.39957	PAS (1);	0.000000	0.33959	N	0.004391	D	0.98760	0.9583	M	0.83953	2.67	0.44852	D	0.997869	D	0.76494	0.999	P	0.59643	0.861	D	0.98832	1.0751	10	0.66056	D	0.02	.	12.8748	0.57984	0.0:1.0:0.0:0.0	.	20	Q9ULD8	KCNH3_HUMAN	M	20	ENSP00000257981:T20M	ENSP00000257981:T20M	T	+	2	0	KCNH3	48219525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	1.954000	0.56735	0.561000	0.74099	ACG		0.746	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		32	125	0	0	0	1	0	32	125					T	49933258	C	T	49933258	3	4	79	1	0	0	0	0	1	0	0	0	8063	536	19	1	61	1	KCNH3	12	49933258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39352	49933258	83918637	13274	23591											
KCNH3	23416	broad.mit.edu	37	chr12	49942692	49942692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctggctgcaggagCtggcccgccgactggagact	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	ENST00000257981.6	+	8	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	402					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGCAGGAGCTGGCCCGCCG	0.692																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1204-1206)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 3							7	8	8					12																	49942692		2153	4223	6376	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942692C>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1204C>A	12.37:g.49942692C>A	ENSP00000257981:p.Leu402Met						p.L402M	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			8	1464	+			402					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1204C>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585537	0.66105	.	.	ENSG00000135519	ENST00000257981	D	0.99121	-5.45	4.52	1.7	0.24286	Ion transport (1);	0.000000	0.36268	N	0.002700	D	0.98858	0.9614	M	0.75264	2.295	0.33444	D	0.582831	D	0.89917	1.0	D	0.87578	0.998	D	0.98991	1.0808	10	0.87932	D	0	.	8.0473	0.30557	0.0:0.7158:0.0:0.2842	.	402	Q9ULD8	KCNH3_HUMAN	M	402	ENSP00000257981:L402M	ENSP00000257981:L402M	L	+	1	2	KCNH3	48228959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.467000	0.45093	0.657000	0.30906	0.650000	0.86243	CTG		0.692	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		13	42	1	0	5.50884e-06	1	5.65664e-06	13	42					A	49942692	C	A	49942692	3	1	79	1	0	0	0	0	1	0	0	0	8063	796	28	3	1234	3	KCNH3	12	49942692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9434	49942692	83909203	13275	23592											
KCNH3	23416	broad.mit.edu	37	chr12	49942829	49942829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctgggcggcccgtcGctgcgcagcgcctacatcac	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	447					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGCCCGTCGCTGCGCAGCG	0.672																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1339-1341)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 3							34	33	33					12																	49942829		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942829G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1341G>A	12.37:g.49942829G>A							p.S447S	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			8	1601	+			447					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1341G>A	CCDS8786.1																																																																																				0.672	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		7	202	0	0	0	1	0	7	202					A	49942829	G	A	49942829	2	1	79	1	0	0	0	0	0	0	0	1	8063	1074	38	1		1	KCNH3	12	49942829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	49942829	83909066	13276	23593											
KCNH3	23416	broad.mit.edu	37	chr12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgcatgtacgcccgcCgctttctgtaccacagccgc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACGCCCGCCGCTTTCTGTA	0.652																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1531-1533)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 3							79	70	73					12																	49943286		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943286C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1531C>T	12.37:g.49943286C>T	ENSP00000257981:p.Arg511Cys						p.R511C	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			9	1791	+			511					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1531C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897636	0.91962	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98302	0.9437	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98771	1.0728	10	0.66056	D	0.02	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	C	511	ENSP00000257981:R511C	ENSP00000257981:R511C	R	+	1	0	KCNH3	48229553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.719000	0.93026	0.655000	0.94253	CGC		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		128	307	0	0	0	1	0	128	307					T	49943286	C	T	49943286	3	4	79	1	0	0	0	0	1	0	0	0	8063	652	23	1	1565	1	KCNH3	12	49943286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	457	49943286	83908609	13277	23594											
KCNH3	23416	broad.mit.edu	37	chr12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagctgccccggcgggaGcaggtggtaaaggccaatgc	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	653					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCGGCGGGAGCAGGTGGTAA	0.637																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1957-1959)gaG>gaT		potassium voltage-gated channel, subfamily H (eag-related), member 3							72	78	76					12																	49948160		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49948160G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1959G>T	12.37:g.49948160G>T	ENSP00000257981:p.Glu653Asp						p.E653D	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			11	2219	+			653					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1959G>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566553	0.13560	.	.	ENSG00000135519	ENST00000257981	D	0.96427	-4.01	4.81	1.93	0.25924	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000228	D	0.82536	0.5058	N	0.01751	-0.74	0.33808	D	0.627452	B	0.02656	0.0	B	0.04013	0.001	T	0.76503	-0.2935	10	0.02654	T	1	.	3.61	0.08057	0.2804:0.0:0.5456:0.174	.	653	Q9ULD8	KCNH3_HUMAN	D	653	ENSP00000257981:E653D	ENSP00000257981:E653D	E	+	3	2	KCNH3	48234427	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	-0.060000	0.11712	0.697000	0.31718	0.563000	0.77884	GAG		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		158	680	1	0	6.51197e-75	1	8.30091e-75	158	680					T	49948160	G	T	49948160	3	4	79	1	0	0	0	0	1	0	0	0	8063	962	34	3	2001	3	KCNH3	12	49948160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4874	49948160	83903735	13278	23595											
FAM186B	84070	broad.mit.edu	37	chr12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctctctccgtgggctCtcctgctccttttctagctg	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000257894.2	-	4	1787	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	542						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1354-1356)gaG>gaT		family with sequence similarity 186, member B							83	78	80					12																	49993797		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993797C>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1626G>T	12.37:g.49993797C>A	ENSP00000257894:p.Glu542Asp					FAM186B_ENST00000257894.2_Missense_Mutation_p.E542D|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	p.E452D			Q8IYM0	F186B_HUMAN			4	1955	-			542					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1356G>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706919	0.30232	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12361	2.69;2.69;2.89	5.1	2.24	0.28232	.	1.912250	0.02624	N	0.103495	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B;B	0.32160	0.358;0.187	B;B	0.32762	0.152;0.106	T	0.29181	-1.0020	9	.	.	.	-0.2479	5.739	0.18083	0.0:0.6614:0.1595:0.1791	.	452;542	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	452;155;542	ENSP00000438569:E452D;ENSP00000436995:E155D;ENSP00000257894:E542D	.	E	-	3	2	FAM186B	48280064	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.996000	0.29719	0.252000	0.21531	0.563000	0.77884	GAG		0.587	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		78	330	1	0	3.76054e-38	1	4.5284e-38	78	330					A	49993797	C	A	49993797	3	1	79	1	0	0	0	0	1	0	0	0	5533	912	32	3	1071	3	FAM186B	12	49993797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45637	49993797	83858098	13279	23596											
FMNL3	91010	broad.mit.edu	37	chr12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagcagtgtcatcttcCggtcagtggacttggtatcc	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000293590.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTCATCTTCCGGTCAGTGGA	0.552																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2410-2412)cGg>cAg		formin-like 3							130	140	137					12																	50042916		2096	4228	6324	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50042916C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2411G>A	12.37:g.50042916C>T	ENSP00000293590:p.Arg804Gln					FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q	p.R804Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			21	2644	-			804			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.2411G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.679679	0.96774	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.991;0.986;0.995	T	0.68085	-0.5502	10	0.21014	T	0.42	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	753;804;804	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	804;804;753;804	ENSP00000335655:R804Q;ENSP00000447479:R804Q;ENSP00000344311:R753Q;ENSP00000293590:R804Q	ENSP00000293590:R804Q	R	-	2	0	FMNL3	48329183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.723000	0.93209	0.655000	0.94253	CGG		0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		35	875	0	0	0	1	0	35	875					T	50042916	C	T	50042916	3	4	79	1	0	0	0	0	1	0	0	0	5978	652	23	1	696	1	FMNL3	12	50042916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49119	50042916	83808979	13280	23597											
FMNL3	91010	broad.mit.edu	37	chr12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttcatcattcagaaattCccgcacccacctgcagataa	5	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000293590.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K			Q8IVF7	FMNL3_HUMAN	formin-like 3	127	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(379-381)Gaa>Aaa		formin-like 3							90	90	90					12																	50055822		1934	4137	6071	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50055822C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.379G>A	12.37:g.50055822C>T	ENSP00000293590:p.Glu127Lys					FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000293590.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K	p.E127K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			5	612	-			127			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.349590	0.82132	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.41	4.41	0.53225	.	0.057003	0.64402	D	0.000002	D	0.93239	0.7846	M	0.68593	2.085	0.80722	D	1	D;B	0.67145	0.996;0.055	D;B	0.73708	0.981;0.034	D	0.93275	0.6655	10	0.51188	T	0.08	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	127;127	Q8IVF7-2;Q8IVF7-3	.;.	K	127	ENSP00000335655:E127K;ENSP00000447479:E127K;ENSP00000344311:E127K;ENSP00000293590:E127K	ENSP00000293590:E127K	E	-	1	0	FMNL3	48342089	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.587000	0.82613	2.460000	0.83146	0.462000	0.41574	GAA		0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		66	248	0	0	0	1	0	66	248					T	50055822	C	T	50055822	3	4	79	1	0	0	0	0	1	0	0	0	5978	864	30	2	2792	2	FMNL3	12	50055822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	50055822	83796073	13281	23598											
NCKAP5L	57701	broad.mit.edu	37	chr12	50188802	50188802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccctccggagcggggaGcccccgccagccccctcctt	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2839-2841)ggC>ggT		NCK-associated protein 5-like							13	14	14					12																	50188802		1927	4113	6040	SO:0001819	synonymous_variant	57701							g.chr12:50188802G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2841C>T	12.37:g.50188802G>A							p.G947G	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	3042	-			943					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2841C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029544	0.08054	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61088	-0.7133	4	.	.	.	-18.2225	11.476	0.50297	0.0845:0.0:0.9155:0.0	.	.	.	.	F	662	.	.	L	-	1	0	NCKAP5L	48475069	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.512000	0.45485	2.619000	0.88677	0.462000	0.41574	CTC		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		13	60	0	0	0	1	0	13	60					A	50188802	G	A	50188802	2	1	79	1	0	0	0	0	0	0	0	1	10266	958	34	2		2	NCKAP5L	12	50188802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132980	50188802	83663093	13282	23599											
NCKAP5L	57701	broad.mit.edu	37	chr12	50195630	50195630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggagcgcagatgcctaCctgagggagcgagcctgtcg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.e6+1		NCK-associated protein 5-like							124	139	134					12																	50195630		2176	4269	6445	SO:0001630	splice_region_variant	57701							g.chr12:50195630C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.351+1G>A	12.37:g.50195630C>T								NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			6	553	-								Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37		CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180587	0.38511	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8951	0.86098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48481897	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.930000	0.75858	2.359000	0.80004	0.561000	0.74099	.		0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Intron	51	260	0	0	0	1	0	51	260					T	50195630	C	T	50195630	5	4	79	1	0	0	0	0	0	0	1	0	10266	521	18	2	3684	2	NCKAP5L	12	50195630	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6828	50195630	83656265	13283	23600											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgataaaagtcaaggCatcaggaaaaggacattctt	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	128	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(382-384)Gcc>Acc		BCDIN3 domain containing							97	96	96					12																	50232651		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232651C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.382G>A	12.37:g.50232651C>T	ENSP00000335201:p.Ala128Thr		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	p.A128T	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN			2	423	-			128			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.382G>A	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287015	0.23478	.	.	ENSG00000186666	ENST00000333924	T	0.46063	0.88	5.57	5.57	0.84162	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.404823	0.30704	N	0.009056	T	0.36991	0.0987	L	0.58101	1.795	0.80722	D	1	B	0.32245	0.361	B	0.26969	0.075	T	0.12319	-1.0552	10	0.30078	T	0.28	.	12.3707	0.55254	0.1683:0.8316:0.0:0.0	.	128	Q7Z5W3	BN3D2_HUMAN	T	128	ENSP00000335201:A128T	ENSP00000335201:A128T	A	-	1	0	BCDIN3D	48518918	0.996000	0.38824	1.000000	0.80357	0.872000	0.50106	2.785000	0.47782	2.785000	0.95823	0.591000	0.81541	GCC		0.468	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		60	392	0	0	0	1	0	60	392					T	50232651	C	T	50232651	3	4	79	1	0	0	0	0	1	0	0	0	1358	710	25	2	500	2	BCDIN3D	12	50232651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37021	50232651	83619244	13284	23601											
AQP5	362	broad.mit.edu	37	chr12	50358797	50358798	+	Frame_Shift_Ins	INS	-	-	G													ttctgggtagggcccatcgtINSgggggcggtcctggctgcca					rs574167227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50358797_50358798insG	ENST00000293599.6	+	4	783_784	c.635_636insG	c.(634-639)gtggggfs	p.VG212fs	AQP6_ENST00000551733.1_5'Flank|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	212					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						GGGCCCATCGTGGGGGCGGTCC	0.614																																						ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(634-636)gggfs		aquaporin 5																																				SO:0001589	frameshift_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50358797_50358798insG	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.640dupG	12.37:g.50358802_50358802dupG	ENSP00000293599:p.Val212fs						p.G212fs	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			4	783_784	+			212					Q6FGW8	Frame_Shift_Ins	INS	ENST00000293599.6	37	c.635_636insG	CCDS8793.1																																																																																				0.614	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		54	657						54	657	---	---	---	---	G	50358798	-	G	50358797	7	5	79	1	0	1	1	0	0	0	0	0	829	1696	59	0	649	0	AQP5	12	50358797	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	126146	50358797	83493098	13285	23602											
RACGAP1	29127	broad.mit.edu	37	chr12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctaccttgggttgacGcttgatgtcctgtaacattg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000548961.1	-	1	102	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C					Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1567-1569)Cgt>Tgt		Rac GTPase activating protein 1							156	141	146					12																	50386039		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50386039G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.97C>T	12.37:g.50386039G>A	ENSP00000446889:p.Arg33Cys					RACGAP1_ENST00000548961.1_Missense_Mutation_p.R33C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C	p.R523C			Q9H0H5	RGAP1_HUMAN			15	1868	-			523			Rho-GAP.			Missense_Mutation	SNP	ENST00000548961.1	37	c.1567C>T		.	.	.	.	.	.	.	.	.	.	G	15.67	2.903173	0.52333	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.06	5.17	0.71159	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.048722	0.85682	D	0.000000	T	0.25269	0.0614	M	0.74647	2.275	0.80722	D	1	P	0.36171	0.541	B	0.22386	0.039	T	0.06499	-1.0823	10	0.42905	T	0.14	-1.5039	11.026	0.47744	0.0664:0.0:0.8044:0.1292	.	523	Q9H0H5	RGAP1_HUMAN	C	33;523;523;523;523;523;523;259	ENSP00000446889:R33C;ENSP00000404190:R523C;ENSP00000309871:R523C;ENSP00000413241:R523C;ENSP00000404808:R523C;ENSP00000449374:R523C;ENSP00000449370:R523C;ENSP00000449565:R259C	ENSP00000309871:R523C	R	-	1	0	RACGAP1	48672306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.669000	0.68081	1.572000	0.49736	0.650000	0.86243	CGT		0.468	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	NM_013277		126	568	0	0	0	1	0	126	568					A	50386039	G	A	50386039	3	1	79	1	0	0	0	0	1	0	0	0	13027	1087	38	1	347	1	RACGAP1	12	50386039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27242	50386039	83465856	13286	23603											
RACGAP1	29127	broad.mit.edu	37	chr12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagctgatttttgctcctCgcttagttgaatgctgccag	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000427314.2	-	6	578	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(355-357)Gag>Aag		Rac GTPase activating protein 1							134	115	121					12																	50399109		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50399109C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.355G>A	12.37:g.50399109C>T	ENSP00000404190:p.Glu119Lys					RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000427314.2_Missense_Mutation_p.E119K	p.E119K			Q9H0H5	RGAP1_HUMAN			5	656	-			119			Interaction with SLC26A8.			Missense_Mutation	SNP	ENST00000427314.2	37	c.355G>A	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084094	0.94100	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000548247;ENST00000546764;ENST00000551876;ENST00000549777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	.	0.203855	0.53938	D	0.000054	D	0.85071	0.5613	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.49226	0.603	D	0.85688	0.1305	10	0.72032	D	0.01	-14.897	20.8794	0.99867	0.0:1.0:0.0:0.0	.	119	Q9H0H5	RGAP1_HUMAN	K	119;119;119;119;119;119;119;45;45;61;61;119;131;119;119;61;45;119;119;119	ENSP00000404190:E119K;ENSP00000309871:E119K;ENSP00000413241:E119K;ENSP00000404808:E119K;ENSP00000449374:E119K;ENSP00000449370:E119K;ENSP00000448697:E119K;ENSP00000446642:E45K;ENSP00000447429:E45K;ENSP00000449963:E61K;ENSP00000450064:E61K;ENSP00000449170:E119K;ENSP00000449620:E131K;ENSP00000449669:E119K;ENSP00000447393:E119K;ENSP00000448968:E61K;ENSP00000447177:E119K;ENSP00000449186:E119K;ENSP00000448707:E119K	ENSP00000309871:E119K	E	-	1	0	RACGAP1	48685376	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.448	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		63	301	0	0	0	1	0	63	301					T	50399109	C	T	50399109	3	4	79	1	0	0	0	0	1	0	0	0	13027	893	31	1	1599	1	RACGAP1	12	50399109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13070	50399109	83452786	13287	23604											
ACCN2	41	broad.mit.edu	37	chr12	50475404	50475404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacctcaccatccggcccGaggcacgttcgaggacttta	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50475404G>A	ENST00000447966.2	+	12	1788	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	ASIC1_ENST00000228468.4_Missense_Mutation_p.R566Q|ASIC1_ENST00000552438.1_Missense_Mutation_p.R554Q	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	520					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CATCCGGCCCGAGGCACGTTC	0.667																																						ENST00000228468.4																			0											c.(1696-1698)cGa>cAa		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						62	50	54					12																	50475404		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50475404G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1559G>A	12.37:g.50475404G>A	ENSP00000400228:p.Arg520Gln					ASIC1_ENST00000552438.1_Missense_Mutation_p.R554Q|ASIC1_ENST00000447966.2_Missense_Mutation_p.R520Q	p.R566Q	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			12	2082	+			520					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.1697G>A	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318406|2.318406	0.40996|0.40996	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.61980	.|0.29;0.07;0.06	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.235549	.|0.27109	.|N	.|0.020897	T|T	0.38983|0.38983	0.1061|0.1061	N|N	0.02315|0.02315	-0.6|-0.6	0.44024|0.44024	D|D	0.996741|0.996741	.|B;B	.|0.19583	.|0.024;0.037	.|B;B	.|0.23018	.|0.003;0.043	T|T	0.25676|0.25676	-1.0125|-1.0125	5|10	.|0.25106	.|T	.|0.35	-3.9443|-3.9443	17.5798|17.5798	0.87963|0.87963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520;566	.|P78348;P78348-1	.|ACCN2_HUMAN;.	K|Q	388|566;520;554	.|ENSP00000228468:R566Q;ENSP00000400228:R520Q;ENSP00000450247:R554Q	.|ENSP00000228468:R566Q	E|R	+|+	1|2	0|0	ACCN2|ACCN2	48761671|48761671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.381000|5.381000	0.66208|0.66208	2.238000|2.238000	0.73509|0.73509	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.667	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		40	155	0	0	0	1	0	40	155					A	50475404	G	A	50475404	3	1	79	1	0	0	0	0	1	0	0	0	129	1058	37	1	1739	1	ACCN2	12	50475404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76295	50475404	83376491	13288	23605											
SMARCD1	6602	broad.mit.edu	37	chr12	50483666	50483666	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatcttcctctctgtaGtggcacaggaccgccactac	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.e7-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							114	105	108					12																	50483666		2203	4300	6503	SO:0001630	splice_region_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50483666G>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.772-1G>T	12.37:g.50483666G>T						SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site		NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			7	1169	+									Splice_Site	SNP	ENST00000394963.4	37		CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530681	0.85706	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48769933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	.		0.537	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	Intron	60	214	1	0	1.31171e-36	1	1.57158e-36	60	214					T	50483666	G	T	50483666	5	4	79	1	0	0	0	0	0	0	1	0	14827	1043	36	3	797	3	SMARCD1	12	50483666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8262	50483666	83368229	13289	23606											
GPD1	2819	broad.mit.edu	37	chr12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccatctgaaggcaaacGccactggcatatctcttatt	9	11	2	1	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.A90T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	113			A -> P (in dbSNP:rs1128867). {ECO:0000269|PubMed:7772607}.		cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAAGGCAAACGCCACTGGCAT	0.562																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(337-339)Gcc>Acc		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						70	58	62					12																	50499448		2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50499448G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.337G>A	12.37:g.50499448G>A	ENSP00000301149:p.Ala113Thr					GPD1_ENST00000548814.1_Missense_Mutation_p.A90T|GPD1_ENST00000547190.1_3'UTR	p.A113T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN			3	569	+			113		A -> P (in dbSNP:rs1128867).			F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.337G>A	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288161	0.40494	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.57907	0.37;0.37	5.39	-7.07	0.01563	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.470065	0.25291	N	0.031732	T	0.45975	0.1369	L	0.51422	1.61	0.33928	D	0.64173	D;B;B	0.56035	0.974;0.066;0.031	P;B;B	0.46510	0.519;0.047;0.04	T	0.62656	-0.6808	10	0.51188	T	0.08	-24.2271	15.4312	0.75102	0.5483:0.0:0.4517:0.0	.	113;90;113	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	T	113;113;90	ENSP00000301149:A113T;ENSP00000446768:A90T	ENSP00000301149:A113T	A	+	1	0	GPD1	48785715	0.009000	0.17119	0.064000	0.19789	0.718000	0.41266	0.206000	0.17375	-1.889000	0.01112	-1.267000	0.01435	GCC		0.562	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			36	207	0	0	0	1	0	36	207					A	50499448	G	A	50499448	3	1	79	1	0	0	0	0	1	0	0	0	6633	1087	38	1	347	1	GPD1	12	50499448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15782	50499448	83352447	13290	23607											
LASS5	91012	broad.mit.edu	37	chr12	50529583	50529583	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcacaaaaagggtgtcacaGagccgctgatacttggcata	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50529583G>T	ENST00000317551.6	-	8	928	c.804C>A	c.(802-804)ctC>ctA	p.L268L	CERS5_ENST00000422340.2_Silent_p.L210L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	268	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGGTGTCACAGAGCCGCTGAT	0.448																																						ENST00000317551.6																			0											c.(802-804)ctC>ctA		ceramide synthase 5							115	107	110					12																	50529583		2203	4300	6503	SO:0001819	synonymous_variant	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50529583G>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.804C>A	12.37:g.50529583G>T						CERS5_ENST00000422340.2_Silent_p.L210L	p.L268L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			8	928	-			268			TLC.		B4DV54	Silent	SNP	ENST00000317551.6	37	c.804C>A	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.936|8.936	0.964520|0.964520	0.18583|0.18583	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550919|ENST00000550547;ENST00000547800	D|.	0.85702|.	-2.02|.	4.56|4.56	0.619|0.619	0.17630|0.17630	.|.	0.230343|.	0.36778|.	N|.	0.002416|.	T|T	0.40522|0.40522	0.1120|0.1120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23404|0.23404	-1.0189|-1.0189	7|4	0.45353|.	T|.	0.12|.	-16.5362|-16.5362	0.9687|0.9687	0.01411|0.01411	0.2263:0.217:0.3521:0.2045|0.2263:0.217:0.3521:0.2045	.|.	.|.	.|.	.|.	M|Y	38|70;172	ENSP00000449311:L38M|.	ENSP00000449311:L38M|.	L|S	-|-	1|2	2|0	CERS5|CERS5	48815850|48815850	0.012000|0.012000	0.17670|0.17670	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.793000|-0.793000	0.04589|0.04589	0.242000|0.242000	0.21303|0.21303	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.448	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		95	422	1	0	6.21051e-42	1	7.55303e-42	95	422					T	50529583	G	T	50529583	2	4	79	1	0	0	0	0	0	0	0	1	8673	929	33	3		3	LASS5	12	50529583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30135	50529583	83322312	13291	23608											
LASS5	91012	broad.mit.edu	37	chr12	50536960	50536960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatccagctgctttgacaGgccctccagccttttcttat	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50536960G>T	ENST00000317551.6	-	3	455	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	CERS5_ENST00000422340.2_Missense_Mutation_p.L53M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	111					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGCTTTGACAGGCCCTCCAGC	0.483																																						ENST00000317551.6																			0											c.(331-333)Ctg>Atg		ceramide synthase 5							136	141	139					12																	50536960		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536960G>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.331C>A	12.37:g.50536960G>T	ENSP00000325485:p.Leu111Met					CERS5_ENST00000422340.2_Missense_Mutation_p.L53M	p.L111M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			3	455	-			111					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.331C>A	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589259	0.66105	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.98345	-3.01;-4.88;-4.88	4.53	4.53	0.55603	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.98960	0.9646	H	0.94423	3.535	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99482	1.0948	10	0.87932	D	0	-7.5724	5.6363	0.17538	0.2401:0.0:0.7599:0.0	.	53;111;30	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	M	30;111;53	ENSP00000447556:L30M;ENSP00000325485:L111M;ENSP00000389050:L53M	ENSP00000325485:L111M	L	-	1	2	CERS5	48823227	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.189000	0.42621	2.518000	0.84900	0.655000	0.94253	CTG		0.483	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		160	724	1	0	3.53118e-72	1	4.4917e-72	160	724					T	50536960	G	T	50536960	3	4	79	1	0	0	0	0	1	0	0	0	8673	991	35	3	879	3	LASS5	12	50536960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7377	50536960	83314935	13292	23609											
LIMA1	51474	broad.mit.edu	37	chr12	50575758	50575758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggttggccaagagacgCtccattggatagactgtctt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000341247.4	-	10	1352	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000547825.1_Silent_p.E99E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000552823.1_Silent_p.E241E|LIMA1_ENST00000552491.1_Silent_p.E98E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	401	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGAGACGCTCCATTGGAT	0.483																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(295-297)gaG>gaA		LIM domain and actin binding 1							106	97	100					12																	50575758		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50575758C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1203G>A	12.37:g.50575758C>T						LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000341247.4_Silent_p.E401E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552823.1_Silent_p.E241E	p.E99E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			4	1566	-			401					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.297G>A	CCDS8802.1																																																																																				0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		28	331	0	0	0	1	0	28	331					T	50575758	C	T	50575758	2	4	79	1	0	0	0	0	0	0	0	1	8828	796	28	2		2	LIMA1	12	50575758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38798	50575758	83276137	13293	23610											
LIMA1	51474	broad.mit.edu	37	chr12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccacgcaggtctctcttGcaggtgcctgaaacttctag	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000341247.4	-	10	1306	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000547825.1_Missense_Mutation_p.A84V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	386					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGTCTCTCTTGCAGGTGCCTG	0.468																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(250-252)gCa>gTa		LIM domain and actin binding 1							81	79	80					12																	50575804		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50575804G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1157C>T	12.37:g.50575804G>A	ENSP00000340184:p.Ala386Val					LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000341247.4_Missense_Mutation_p.A386V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V	p.A84V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			4	1520	-			386					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.251C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623152	0.14193	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.08;-1.09;-1.41;-1.83;-1.11;-1.41;-1.4	5.49	2.53	0.30540	Zinc finger, LIM-type (1);	0.325550	0.35320	N	0.003281	T	0.81192	0.4771	M	0.69823	2.125	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.64947	-0.6287	10	0.18710	T	0.47	.	10.2094	0.43132	0.2881:0.0:0.7119:0.0	.	396;386;225	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	83;84;226;387;386;227;225;305	ENSP00000448463:A83V;ENSP00000448706:A84V;ENSP00000450266:A226V;ENSP00000378400:A387V;ENSP00000340184:A386V;ENSP00000448779:A227V;ENSP00000450087:A225V	ENSP00000340184:A386V	A	-	2	0	LIMA1	48862071	0.219000	0.23619	0.606000	0.28943	0.973000	0.67179	1.043000	0.30316	0.741000	0.32674	0.655000	0.94253	GCA		0.468	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		20	332	0	0	0	1	0	20	332					A	50575804	G	A	50575804	3	1	79	1	0	0	0	0	1	0	0	0	8828	1319	46	2	1130	2	LIMA1	12	50575804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	50575804	83276091	13294	23611											
LIMA1	51474	broad.mit.edu	37	chr12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacctgagtctagatcTggggtggatttgttcttctt	13	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	127					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTCTAGATCTGGGGTGGATT	0.507																																						ENST00000341247.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(379-381)Aga>Gga		LIM domain and actin binding 1							216	155	176					12																	50616055		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616055T>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.379A>G	12.37:g.50616055T>C	ENSP00000340184:p.Arg127Gly					RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552823.1_5'UTR	p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN			4	528	-			127					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.379A>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	3.781	-0.045713	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.84800	-1.9;-1.16	5.12	-0.174	0.13319	.	0.889113	0.09948	N	0.735058	T	0.78438	0.4283	M	0.62723	1.935	0.21256	N	0.999748	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.61783	-0.6992	10	0.33940	T	0.23	.	2.283	0.04119	0.1209:0.1435:0.366:0.3696	.	136;127	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	G	127;127;46;127	ENSP00000378400:R127G;ENSP00000340184:R127G	ENSP00000340184:R127G	R	-	1	2	LIMA1	48902322	0.055000	0.20627	0.001000	0.08648	0.196000	0.23810	0.210000	0.17455	-0.162000	0.10964	0.533000	0.62120	AGA		0.507	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		93	382	0	0	0	1	0	93	382					C	50616055	T	C	50616055	3	2	79	1	0	0	0	0	1	0	0	0	8828	1588	55	4	1935	4	LIMA1	12	50616055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40251	50616055	83235840	13295	23612											
LARP4	113251	broad.mit.edu	37	chr12	50848199	50848199	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaccattccaaaaaaatCggtaagataaaaaccatagc	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000518444.1_Splice_Site_p.R373C|LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000347328.5_Splice_Site_p.R303C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.e10+1		La ribonucleoprotein domain family, member 4							77	68	71					12																	50848199		1814	4070	5884	SO:0001630	splice_region_variant	113251						nucleotide binding|RNA binding	g.chr12:50848199C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1121+1C>T	12.37:g.50848199C>T						LARP4_ENST00000429001.3_Splice_Site_p.R380_splice|LARP4_ENST00000518561.1_Splice_Site_p.R304_splice|LARP4_ENST00000522085.1_Splice_Site_p.R374_splice|LARP4_ENST00000347328.5_Splice_Site_p.R303_splice|LARP4_ENST00000293618.8_Splice_Site_p.R374_splice|LARP4_ENST00000518444.1_Splice_Site_p.R373_splice	p.R374_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			10	1232	+			374					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	37	c.1121_splice	CCDS41782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908793|2.908793	0.52439|0.52439	.|.	.|.	ENSG00000161813|ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328|ENST00000293618	T;T;T;T;T;T|T	0.36157|0.34667	1.27;1.27;1.27;1.27;1.27;1.33|1.35	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.40543|0.40543	1.245|1.245	0.40960|0.40960	D|D	0.984616|0.984616	B;B;D;B;B|D	0.89917|0.89917	0.354;0.027;1.0;0.146;0.202|1.0	B;B;D;B;B|D	0.80764|0.80764	0.139;0.021;0.994;0.064;0.038|0.994	T|T	0.58115|0.58115	-0.7693|-0.7693	10|10	0.39692|0.66056	T|D	0.17|0.02	.|.	16.9745|16.9745	0.86309|0.86309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;373;303;374;380|374	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4|G3XAA8	.;.;.;LARP4_HUMAN;.|.	C|W	380;374;374;373;304;275;303|374	ENSP00000415464:R380C;ENSP00000381490:R374C;ENSP00000429781:R374C;ENSP00000429077:R373C;ENSP00000430851:R304C;ENSP00000340901:R303C|ENSP00000293618:R374W	ENSP00000340901:R303C|ENSP00000293618:R374W	R|R	+|+	1|1	0|2	LARP4|LARP4	49134466|49134466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.474000|5.474000	0.66781|0.66781	2.174000|2.174000	0.68829|0.68829	0.485000|0.485000	0.47835|0.47835	CGT|CGG		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Missense_Mutation	23	184	0	0	0	1	0	23	184					T	50848199	C	T	50848199	5	4	79	1	0	0	0	0	0	0	1	0	8661	898	31	1	1158	1	LARP4	12	50848199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232144	50848199	83003696	13296	23613											
LARP4	113251	broad.mit.edu	37	chr12	50869634	50869634	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcaatatgtgccacccaGatcaccaaagtaaaaaacaa	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50869634G>T	ENST00000398473.2	+	16	2274	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	LARP4_ENST00000518444.1_Missense_Mutation_p.R720I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	721					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTGCCACCCAGATCACCAAAG	0.443																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2161-2163)aGa>aTa		La ribonucleoprotein domain family, member 4							52	53	52					12																	50869634		1884	4121	6005	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869634G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2162G>T	12.37:g.50869634G>T	ENSP00000381490:p.Arg721Ile					LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I	p.R721I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2274	+			721					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.2162G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798127	0.50208	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.34072	1.38;1.39;1.41;1.4;1.38	5.44	5.44	0.79542	.	0.290023	0.38605	N	0.001639	T	0.56046	0.1959	L	0.52364	1.645	0.58432	D	0.999992	B;D;P;B;B;P;B	0.76494	0.36;0.999;0.866;0.42;0.42;0.495;0.379	B;D;B;B;B;B;B	0.69479	0.112;0.964;0.328;0.061;0.09;0.09;0.095	T	0.54125	-0.8340	10	0.56958	D	0.05	.	19.6351	0.95728	0.0:0.0:1.0:0.0	.	602;131;720;650;650;721;727	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	650;727;721;720;602;650	ENSP00000293618:R650I;ENSP00000415464:R727I;ENSP00000381490:R721I;ENSP00000429077:R720I;ENSP00000340901:R650I	ENSP00000293618:R650I	R	+	2	0	LARP4	49155901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	2.728000	0.93425	0.643000	0.83706	AGA		0.443	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		7	285	1	0	8.12818e-05	1	8.2724e-05	7	285					T	50869634	G	T	50869634	3	4	79	1	0	0	0	0	1	0	0	0	8661	942	33	3	2228	3	LARP4	12	50869634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21435	50869634	82982261	13297	23614											
DIP2B	57609	broad.mit.edu	37	chr12	51068306	51068306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaactacctcttcctcctcAtcatcttcctcaattcgccc	1	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	230	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTCCTCCTCATCATCTTCCT	0.448																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(688-690)tcA>tcG		DIP2 disco-interacting protein 2 homolog B (Drosophila)							139	123	129					12																	51068306		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51068306A>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.690A>G	12.37:g.51068306A>G							p.S230S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			6	724	+			230			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.690A>G	CCDS31799.1																																																																																				0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		46	271	0	0	0	1	0	46	271					G	51068306	A	G	51068306	2	3	79	1	0	0	0	0	0	0	0	1	4544	204	8	4		4	DIP2B	12	51068306	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198672	51068306	82783589	13298	23615											
DIP2B	57609	broad.mit.edu	37	chr12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgctcttgaatctGccctgcagcgctggggtacc	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	342						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTGAATCTGCCCTGCAGCG	0.552																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1024-1026)Gcc>Acc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							79	70	73					12																	51072569		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51072569G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1024G>A	12.37:g.51072569G>A	ENSP00000301180:p.Ala342Thr						p.A342T	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			8	1058	+			342					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1024G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360615	0.82353	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.11277	2.79	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.87578	0.176;0.998	T	0.00844	-1.1543	10	0.33141	T	0.24	-13.636	18.2696	0.90064	0.0:0.0:1.0:0.0	.	342;352	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	352;342	ENSP00000301180:A342T	ENSP00000301180:A342T	A	+	1	0	DIP2B	49358836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.619000	0.88677	0.467000	0.42956	GCC		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		44	209	0	0	0	1	0	44	209					A	51072569	G	A	51072569	3	1	79	1	0	0	0	0	1	0	0	0	4544	1319	46	2	1054	2	DIP2B	12	51072569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4263	51072569	82779326	13299	23616											
ATF1	466	broad.mit.edu	37	chr12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattctggagtttctgctgCtgtcacttctatgtctgttc	8	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	91					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	GTTTCTGCTGCTGTCACTTCT	0.388			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"E, M"	"EWSR1, FUS"		"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(271-273)gCt>gAt		activating transcription factor 1							83	87	86					12																	51203316		2203	4300	6503	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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			g.chr12:51203316C>A	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.272C>A	12.37:g.51203316C>A	ENSP00000262053:p.Ala91Asp					ATF1_ENST00000539132.1_Intron	p.A91D	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			4	294	+			91					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.272C>A	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.293949	0.10567	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.78003	-1.14;0.45;0.44	.	.	.	.	0.367899	0.30695	N	0.009070	T	0.67776	0.2929	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.25759	0.063	T	0.60409	-0.7269	8	0.56958	D	0.05	-14.0405	.	.	.	.	91	P18846	ATF1_HUMAN	D	91	ENSP00000448592:A91D;ENSP00000262053:A91D;ENSP00000448921:A91D	ENSP00000262053:A91D	A	+	2	0	ATF1	49489583	0.996000	0.38824	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT		0.388	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		64	306	1	0	3.37205e-40	1	4.08638e-40	64	306					A	51203316	C	A	51203316	3	1	79	1	0	0	0	0	1	0	0	0	1080	797	28	3	282	3	ATF1	12	51203316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130747	51203316	82648579	13300	23617											
TMPRSS12	283471	broad.mit.edu	37	chr12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctgagaggagttatgggGgaataattcctaacacttca	10	6	2	1	rs201837185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000398458.3	+	4	765	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000551456.1_Nonsense_Mutation_p.G245*	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	245	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343																																						ENST00000551456.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(733-735)Gga>Tga		transmembrane (C-terminal) protease, serine 12							180	173	175					12																	51279109		1842	4093	5935	SO:0001587	stop_gained	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279109G>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.733G>T	12.37:g.51279109G>T	ENSP00000381476:p.Gly245*					TMPRSS12_ENST00000398458.3_Nonsense_Mutation_p.G245*	p.G245*			Q86WS5	TMPSC_HUMAN			4	778	+			245			Peptidase S1.		B9ZVX2	Nonsense_Mutation	SNP	ENST00000398458.3	37	c.733G>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695336	0.48202	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	.	.	.	5.22	3.4	0.38934	.	0.539313	0.16944	N	0.193191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5652	8.296	0.31986	0.1833:0.0:0.8167:0.0	.	.	.	.	X	245	.	ENSP00000381476:G245X	G	+	1	0	TMPRSS12	49565376	0.336000	0.24757	0.001000	0.08648	0.129000	0.20672	2.251000	0.43187	0.706000	0.31912	0.557000	0.71058	GGA		0.343	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		48	686	1	0	3.86236e-30	1	4.52529e-30	48	686					T	51279109	G	T	51279109	4	4	79	1	0	0	0	0	0	1	0	0	16296	1233	43	3	747	3	TMPRSS12	12	51279109	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75793	51279109	82572786	13301	23618											
SLC11A2	4891	broad.mit.edu	37	chr12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtggcatgatgacagCtcccacgatgcccacagcct	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000262051.7	-	9	871	c.784G>A	c.(784-786)Gct>Act	p.A262T	SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	262					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(871-873)Gct>Act		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							227	147	174					12																	51390647		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390647C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.784G>A	12.37:g.51390647C>T	ENSP00000262051:p.Ala262Thr					SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000262051.7_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T	p.A291T	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	920	-			262					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.871G>A	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819946	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.99425	4.56	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	0.91635	0.998;0.998;0.998;0.998;0.999;0.999	D	0.95025	0.8164	10	0.87932	D	0	-14.8869	18.8085	0.92048	0.0:1.0:0.0:0.0	.	225;258;291;262;111;262	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	262;262;262;291;291;262;258;183	ENSP00000262051:A262T;ENSP00000446769:A262T;ENSP00000262052:A262T;ENSP00000378364:A291T;ENSP00000449200:A291T;ENSP00000444542:A262T;ENSP00000442810:A258T;ENSP00000446914:A183T	ENSP00000262051:A262T	A	-	1	0	SLC11A2	49676914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GCT		0.522	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			51	248	0	0	0	1	0	51	248					T	51390647	C	T	51390647	3	4	79	1	0	0	0	0	1	0	0	0	14431	797	28	2	1015	2	SLC11A2	12	51390647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111538	51390647	82461248	13302	23619											
SLC11A2	4891	broad.mit.edu	37	chr12	51390675	51390675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcccacagcctgttcaatCtgtggagtgcgacagcctga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000262051.7	-	9	843	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	252					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(841-843)caG>caA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							225	145	172					12																	51390675		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390675C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.756G>A	12.37:g.51390675C>T						SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000262051.7_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q	p.Q281Q	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	892	-			252					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.843G>A	CCDS53792.1																																																																																				0.498	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			58	250	0	0	0	1	0	58	250					T	51390675	C	T	51390675	2	4	79	1	0	0	0	0	0	0	0	1	14431	912	32	2		2	SLC11A2	12	51390675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	51390675	82461220	13303	23620											
TFCP2	7024	broad.mit.edu	37	chr12	51493563	51493563	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccttggacgcaccatcCtaaggggaggaaaaaggcta	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51493563C>A	ENST00000257915.5	-	12	1610		c.e12-1		TFCP2_ENST00000307660.4_Splice_Site|TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000549867.1_Splice_Site	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ACGCACCATCCTAAGGGGAGG	0.413																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.e11-1		transcription factor CP2							144	112	122					12																	51493563		2203	4300	6503	SO:0001630	splice_region_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51493563C>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1152-1G>T	12.37:g.51493563C>A						TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000257915.5_Splice_Site|TFCP2_ENST00000549867.1_Splice_Site		NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			11	1719	-								A8K5E9|Q12801|Q9UD75|Q9UD77	Splice_Site	SNP	ENST00000257915.5	37		CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287250	0.80803	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4858	0.90828	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFCP2	49779830	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.203000	0.77864	2.843000	0.97960	0.585000	0.79938	.		0.413	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	Intron	57	260	1	0	8.44121e-28	1	9.79253e-28	57	260					A	51493563	C	A	51493563	5	1	79	1	0	0	0	0	0	0	1	0	15847	695	24	3	373	3	TFCP2	12	51493563	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102888	51493563	82358332	13304	23621											
TFCP2	7024	broad.mit.edu	37	chr12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctggccgagtgtaagtgCtcagtatattccccgttttc	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	226	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433																																						ENST00000257915.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(676-678)gaG>gaT		transcription factor CP2							197	176	183					12																	51502943		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51502943C>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.678G>T	12.37:g.51502943C>A	ENSP00000257915:p.Glu226Asp					TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN			6	1136	-			226			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.678G>T	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047049	0.55110	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.18174	2.23;2.23;2.23	5.45	2.6	0.31112	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.47016	1.485	0.80722	D	1	B;D;B	0.71674	0.022;0.998;0.016	B;D;B	0.78314	0.03;0.991;0.059	T	0.01839	-1.1263	10	0.23891	T	0.37	-22.8115	9.453	0.38739	0.0:0.6972:0.0:0.3028	.	226;226;226	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	D	226;226;128	ENSP00000257915:E226D;ENSP00000449742:E226D;ENSP00000449280:E128D	ENSP00000257915:E226D	E	-	3	2	TFCP2	49789210	0.530000	0.26330	1.000000	0.80357	0.980000	0.70556	-0.191000	0.09601	0.803000	0.34113	0.655000	0.94253	GAG		0.433	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		84	420	1	0	8.67779e-30	1	1.01564e-29	84	420					A	51502943	C	A	51502943	3	1	79	1	0	0	0	0	1	0	0	0	15847	796	28	3	870	3	TFCP2	12	51502943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9380	51502943	82348952	13305	23622											
POU6F1	5463	broad.mit.edu	37	chr12	51585522	51585522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaagttgatcccatcCtcatccagacttggagtatg	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000333640.10_Silent_p.E139E|POU6F1_ENST00000550824.1_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(415-417)gaG>gaA		POU class 6 homeobox 1							108	107	107					12																	51585522		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585522C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.417G>A	12.37:g.51585522C>T						POU6F1_ENST00000550824.1_Silent_p.E139E|POU6F1_ENST00000333640.10_Silent_p.E139E	p.E139E			Q14863	PO6F1_HUMAN			10	1356	-			139			Gln/Pro-rich.|POU-specific.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.417G>A	CCDS31803.1																																																																																				0.542	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		129	549	0	0	0	1	0	129	549					T	51585522	C	T	51585522	2	4	79	1	0	0	0	0	0	0	0	1	12326	680	24	2		2	POU6F1	12	51585522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82579	51585522	82266373	13306	23623											
POU6F1	5463	broad.mit.edu	37	chr12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtgctggggccgccaCactagctgagttcactaccc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M|POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	29	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(85-87)Gtg>Atg		POU class 6 homeobox 1							19	21	20					12																	51589917		2199	4296	6495	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51589917C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.85G>A	12.37:g.51589917C>T	ENSP00000373895:p.Val29Met					POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M	p.V29M			Q14863	PO6F1_HUMAN			8	1024	-			29			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.85G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443141	0.43326	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.85484	-1.99;-1.99;-1.99	5.5	2.01	0.26516	.	2.733070	0.01422	N	0.014403	T	0.76652	0.4017	N	0.22421	0.69	0.23356	N	0.997846	B	0.11235	0.004	B	0.11329	0.006	T	0.62515	-0.6838	10	0.38643	T	0.18	.	5.3209	0.15881	0.0:0.5829:0.1638:0.2533	.	29	Q14863	PO6F1_HUMAN	M	29	ENSP00000373895:V29M;ENSP00000330190:V29M;ENSP00000448389:V29M	ENSP00000330190:V29M	V	-	1	0	POU6F1	49876184	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-0.065000	0.11617	1.333000	0.45449	0.555000	0.69702	GTG		0.617	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		12	87	0	0	0	1	0	12	87					T	51589917	C	T	51589917	3	4	79	1	0	0	0	0	1	0	0	0	12326	478	17	2	836	2	POU6F1	12	51589917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4395	51589917	82261978	13307	23624											
CELA1	1990	broad.mit.edu	37	chr12	51736376	51736376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccggcagccacgttatcGctgttccagtatggatgcac	10	13	0	0	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.0					ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(307-309)agC>agT		chymotrypsin-like elastase family, member 1		G		4,4402	9.9+/-24.2	0,4,2199	179	137	151		309	2.3	0.8	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA1	NM_001971.5		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		103/259	51736376	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736376G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.309C>T	12.37:g.51736376G>A							p.S103S	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	349	-			103			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.309C>T	CCDS8812.1																																																																																				0.577	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		111	493	0	0	0	1	0	111	493					A	51736376	G	A	51736376	2	1	79	1	0	0	0	0	0	0	0	1	3219	1078	38	1		1	CELA1	12	51736376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146459	51736376	82115519	13308	23625											
GALNT6	11226	broad.mit.edu	37	chr12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagacctctgccaggcGcacttgattgcgagcaatga	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	430					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1288-1290)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							168	174	172					12																	51752996		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51752996G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1288C>T	12.37:g.51752996G>A	ENSP00000444171:p.Arg430Cys					GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C	p.R430C			Q8NCL4	GALT6_HUMAN			7	1493	-			430					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1288C>T	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814279	0.90790	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71103	-0.54;-0.54	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94155	0.7409	10	0.87932	D	0	.	16.6531	0.85222	0.0:0.0:1.0:0.0	.	430	Q8NCL4	GALT6_HUMAN	C	430;430;411	ENSP00000444171:R430C;ENSP00000348668:R430C	ENSP00000348668:R430C	R	-	1	0	GALNT6	50039263	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.638000	0.83328	2.661000	0.90470	0.561000	0.74099	CGC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		154	1272	0	0	0	1	0	154	1272					A	51752996	G	A	51752996	3	1	79	1	0	0	0	0	1	0	0	0	6245	1087	38	1	600	1	GALNT6	12	51752996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16620	51752996	82098899	13309	23626											
SCN8A	6334	broad.mit.edu	37	chr12	52080881	52080881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctttgacaggtacacGttcacagggatttatacatt	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	164					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)			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)	ACAGGTACACGTTCACAGGGA	0.378																																						ENST00000354534.5																			0				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						c.(490-492)acG>acA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						101	91	94					12																	52080881		1848	4088	5936	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52080881G>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.492G>A	12.37:g.52080881G>A						SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	5	670	+			164					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.492G>A	CCDS44891.1																																																																																				0.378	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		23	217	0	0	0	1	0	23	217					A	52080881	G	A	52080881	2	1	79	1	0	0	0	0	0	0	0	1	13974	1132	40	1		1	SCN8A	12	52080881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327885	52080881	81771014	13310	23627											
SCN8A	6334	broad.mit.edu	37	chr12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccgagaatgagttcgCggatgacgagcacagcacgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	584					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)			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)	AATGAGTTCGCGGATGACGAG	0.672																																						ENST00000354534.5																			0				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						c.(1750-1752)gCg>gTg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						12	18	16					12																	52115445		1991	4164	6155	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.chr12:52115445C>T	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.1751C>T	12.37:g.52115445C>T	ENSP00000346534:p.Ala584Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	1929	+			584					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1751C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853357	0.91355	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.125201	0.53938	D	0.000057	D	0.98966	0.9648	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	D;D;D;D	0.97110	0.915;0.944;0.972;1.0	D	0.99414	1.0931	10	0.72032	D	0.01	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	584;584;584;584	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	V	584;584;584;584;497;382	ENSP00000448415:A584V;ENSP00000346534:A584V;ENSP00000440360:A584V;ENSP00000347255:A584V;ENSP00000447567:A382V	ENSP00000346534:A584V	A	+	2	0	SCN8A	50401712	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	7.595000	0.82710	2.136000	0.66102	0.467000	0.42956	GCG		0.672	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		23	73	0	0	0	1	0	23	73					T	52115445	C	T	52115445	3	4	79	1	0	0	0	0	1	0	0	0	13974	768	27	1	1793	1	SCN8A	12	52115445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34564	52115445	81736450	13311	23628											
ACVRL1	94	broad.mit.edu	37	chr12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcacgtggagatcttcGgtacacagggcaaaccagcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000388922.4	+	7	1238	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(997-999)Ggt>Agt		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						49	45	47					12																	52309191		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309191G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.955G>A	12.37:g.52309191G>A	ENSP00000373574:p.Gly319Ser					ACVRL1_ENST00000388922.4_Missense_Mutation_p.G319S|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S	p.G333S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	1098	+			319		S -> I (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).	Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.997G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436485	0.83885	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.96648	0.8906	M	0.84511	2.7	0.58432	D	0.999993	D;D	0.64830	0.984;0.994	D;D	0.63113	0.911;0.911	D	0.96101	0.9069	10	0.46703	T	0.11	.	18.6856	0.91562	0.0:0.0:1.0:0.0	.	145;319	E7EN07;P37023	.;ACVL1_HUMAN	S	319;319;333;145;145	ENSP00000373574:G319S;ENSP00000447884:G333S;ENSP00000392492:G145S	ENSP00000267008:G319S	G	+	1	0	ACVRL1	50595458	0.999000	0.42202	0.969000	0.41365	0.921000	0.55340	3.458000	0.53014	2.826000	0.97356	0.563000	0.77884	GGT		0.617	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			53	207	0	0	0	1	0	53	207					A	52309191	G	A	52309191	3	1	79	1	0	0	0	0	1	0	0	0	225	1116	39	1	977	1	ACVRL1	12	52309191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193746	52309191	81542704	13312	23629											
ACVR1B	91	broad.mit.edu	37	chr12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttctactgcctgagCtcggaggacctgcgcaacac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000257963.4	+	2	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	86					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(256-258)agC>agA		activin A receptor, type IB	Adenosine triphosphate(DB00171)						108	85	93					12																	52369215		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52369215C>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.258C>A	12.37:g.52369215C>A	ENSP00000257963:p.Ser86Arg					ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R	p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	2	335	+			86					B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.258C>A	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233134	0.58777	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.90732	0.39;0.39;0.39;-2.72;0.39;0.39	4.88	3.97	0.46021	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.68317	2.08	0.58432	D	0.999998	B;B;D;D	0.55800	0.033;0.022;0.973;0.957	B;B;P;P	0.61800	0.048;0.076;0.894;0.865	D	0.91643	0.5328	10	0.42905	T	0.14	.	10.0775	0.42368	0.0:0.7754:0.0:0.2246	.	86;86;86;86	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	86;86;86;34;86;34	ENSP00000257963:S86R;ENSP00000442656:S86R;ENSP00000390477:S86R;ENSP00000443218:S34R;ENSP00000397550:S86R;ENSP00000442885:S34R	ENSP00000257963:S86R	S	+	3	2	ACVR1B	50655482	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.817000	0.27281	1.341000	0.45600	0.650000	0.86243	AGC		0.577	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		48	218	1	0	8.86878e-18	1	9.80954e-18	48	218					A	52369215	C	A	52369215	3	1	79	1	0	0	0	0	1	0	0	0	221	796	28	3	264	3	ACVR1B	12	52369215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60024	52369215	81482680	13313	23630											
ACVR1B	91	broad.mit.edu	37	chr12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgactcctttaaatgtGctgatatttatgccctcggg	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1201-1203)Gct>Act		activin A receptor, type IB	Adenosine triphosphate(DB00171)						129	125	127					12																	52380666		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380666G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1201G>A	12.37:g.52380666G>A	ENSP00000257963:p.Ala401Thr					ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T	p.A401T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1278	+			401			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1201G>A	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	ACVR1B	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT		0.413	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		86	383	0	0	0	1	0	86	383					A	52380666	G	A	52380666	3	1	79	1	0	0	0	0	1	0	0	0	221	1319	46	2	1354	2	ACVR1B	12	52380666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11451	52380666	81471229	13314	23631											
GRASP	160622	broad.mit.edu	37	chr12	52407526	52407526	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggcatccggcatcgagaGattgtggacatcattaaggc	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52407526G>T	ENST00000293662.4	+	5	590	c.510G>T	c.(508-510)gaG>gaT	p.E170D	GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000380039.2_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCATCGAGAGATTGTGGACA	0.552																																						ENST00000293662.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(508-510)gaG>gaT		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							121	109	113					12																	52407526		2203	4300	6503	SO:0001583	missense	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52407526G>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.510G>T	12.37:g.52407526G>T	ENSP00000293662:p.Glu170Asp					GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000380039.2_Missense_Mutation_p.E27D	p.E170D	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	590	+			170			PDZ.		Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.510G>T	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306148	0.40795	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.48836	2.18;0.8;0.8;0.8	5.09	3.21	0.36854	PDZ/DHR/GLGF (4);	0.103985	0.64402	D	0.000004	T	0.46151	0.1378	N	0.13299	0.325	0.45648	D	0.998574	D;D	0.76494	0.997;0.999	P;D	0.70016	0.885;0.967	T	0.38845	-0.9642	10	0.36615	T	0.2	-1.568	9.7665	0.40563	0.17:0.0:0.83:0.0	.	27;170	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	D	170;27;40;27	ENSP00000293662:E170D;ENSP00000449492:E27D;ENSP00000448476:E40D;ENSP00000369378:E27D	ENSP00000293662:E170D	E	+	3	2	GRASP	50693793	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.218000	0.32467	1.365000	0.46057	0.462000	0.41574	GAG		0.552	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			16	475	1	0	2.48551e-13	1	2.68178e-13	16	475					T	52407526	G	T	52407526	3	4	79	1	0	0	0	0	1	0	0	0	6785	933	33	3	528	3	GRASP	12	52407526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26860	52407526	81444369	13315	23632											
NR4A1	3164	broad.mit.edu	37	chr12	52449883	52449883	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtggacaagaggcggCgaaaccgctgccagttctgc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52449883C>T	ENST00000243050.1	+	4	1260	c.946C>T	c.(946-948)Cga>Tga	p.R316*	NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.R370*|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAAGAGGCGGCGAAACCGCTG	0.632																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1108-1110)Cga>Tga		nuclear receptor subfamily 4, group A, member 1							85	80	82					12																	52449883		2203	4300	6503	SO:0001587	stop_gained	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52449883C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.946C>T	12.37:g.52449883C>T	ENSP00000243050:p.Arg316*					NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*	p.R370*			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	2103	+			316	R -> L (in Ref. 2; AAA36763).				B4DML7|Q15627|Q53Y00|Q6IBU8	Nonsense_Mutation	SNP	ENST00000243050.1	37	c.1108C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	38	7.216842	0.98143	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	4.27	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4197	0.49974	0.3237:0.6763:0.0:0.0	.	.	.	.	X	329;370;329;316;316;316	.	ENSP00000243050:R316X	R	+	1	2	NR4A1	50736150	0.472000	0.25870	1.000000	0.80357	0.994000	0.84299	-0.028000	0.12350	1.340000	0.45581	0.561000	0.74099	CGA		0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			21	524	0	0	0	1	0	21	524					T	52449883	C	T	52449883	4	4	79	1	0	0	0	0	0	1	0	0	10674	760	27	1	952	1	NR4A1	12	52449883	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42357	52449883	81402012	13316	23633											
NR4A1	3164	broad.mit.edu	37	chr12	52450304	52450304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagacagcctgaaggggCggcggggccggctaccttca	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450304C>T	ENST00000243050.1	+	5	1347	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000545748.1_Missense_Mutation_p.R399W|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	345					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGAAGGGGCGGCGGGGCCG	0.627																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1195-1197)Cgg>Tgg		nuclear receptor subfamily 4, group A, member 1							73	81	78					12																	52450304		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52450304C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1033C>T	12.37:g.52450304C>T	ENSP00000243050:p.Arg345Trp					NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000243050.1_Missense_Mutation_p.R345W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W	p.R399W			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	2190	+			345					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1195C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845760	0.71603	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70288	-0.4913	10	0.87932	D	0	.	11.7537	0.51863	0.1767:0.8233:0.0:0.0	.	358;345	B4DML7;P22736	.;NR4A1_HUMAN	W	358;399;358;345;345;345	ENSP00000353427:R358W;ENSP00000440864:R399W;ENSP00000449539:R358W;ENSP00000243050:R345W;ENSP00000378302:R345W;ENSP00000378301:R345W	ENSP00000243050:R345W	R	+	1	2	NR4A1	50736571	0.363000	0.24989	0.990000	0.47175	0.982000	0.71751	0.963000	0.29293	2.667000	0.90743	0.561000	0.74099	CGG		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			29	831	0	0	0	1	0	29	831					T	52450304	C	T	52450304	3	4	79	1	0	0	0	0	1	0	0	0	10674	759	27	1	1043	1	NR4A1	12	52450304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421	52450304	81401591	13317	23634											
NR4A1	3164	broad.mit.edu	37	chr12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacacctggactcagggCccagcactgccaaactggac	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000243050.1	+	5	1443	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	377					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1291-1293)Ccc>Tcc		nuclear receptor subfamily 4, group A, member 1							85	80	82					12																	52450400		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52450400C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1129C>T	12.37:g.52450400C>T	ENSP00000243050:p.Pro377Ser					NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000243050.1_Missense_Mutation_p.P377S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S	p.P431S			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	2286	+			377			Ligand-binding (Potential).		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1291C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122481	0.94429	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.709	D;P	0.87578	0.998;0.609	T	0.69514	-0.5125	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	390;377	B4DML7;P22736	.;NR4A1_HUMAN	S	390;431;390;377;377;377	ENSP00000353427:P390S;ENSP00000440864:P431S;ENSP00000449539:P390S;ENSP00000243050:P377S;ENSP00000378302:P377S;ENSP00000378301:P377S	ENSP00000243050:P377S	P	+	1	0	NR4A1	50736667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.578000	0.67450	2.735000	0.93741	0.655000	0.94253	CCC		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			71	409	0	0	0	1	0	71	409					T	52450400	C	T	52450400	3	4	79	1	0	0	0	0	1	0	0	0	10674	739	26	2	1139	2	NR4A1	12	52450400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	52450400	81401495	13318	23635											
C12orf44	60673	broad.mit.edu	37	chr12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggcgatgggctggggCagatgtccttggagttctac	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		97					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(289-291)Cag>Tag		chromosome 12 open reading frame 44							98	87	90					12																	52470606		2203	4300	6503	SO:0001587	stop_gained	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470606C>T																												ENST00000336854.4:c.289C>T	12.37:g.52470606C>T	ENSP00000338990:p.Gln97*						p.Q97*	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	767	+			97					Q9HAE2|Q9HBN1	Nonsense_Mutation	SNP	ENST00000336854.4	37	c.289C>T	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999222	0.93227	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0403	16.5961	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000338990:Q97X	Q	+	1	0	C12orf44	50756873	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.252000	0.78309	2.507000	0.84556	0.655000	0.94253	CAG		0.572	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			51	242	0	0	0	1	0	51	242					T	52470606	C	T	52470606	4	4	79	1	0	0	0	0	0	1	0	0	1695	711	25	2	295	2	C12orf44	12	52470606	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20206	52470606	81381289	13319	23636											
KRT7	3855	broad.mit.edu	37	chr12	52627084	52627084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccggcccagccaccatgTccatccacttcagctccccg	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	ENST00000331817.5	+	1	187	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	2	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGCCACCATGTCCATCCACTT	0.731																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(4-6)Tcc>Ccc		keratin 7							15	16	16					12																	52627084		2199	4293	6492	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627084T>C		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.4T>C	12.37:g.52627084T>C	ENSP00000329243:p.Ser2Pro						p.S2P	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	187	+			2			Head.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.4T>C	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247250	0.59103	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.83673	-1.75	4.37	4.37	0.52481	.	.	.	.	.	D	0.86414	0.5927	M	0.67700	2.07	0.34535	D	0.709599	D;D	0.57571	0.98;0.966	P;P	0.56700	0.804;0.641	D	0.90410	0.4409	9	0.87932	D	0	.	9.5221	0.39143	0.0:0.0:0.1774:0.8226	.	2;2	F8VZY5;P08729	.;K2C7_HUMAN	P	2	ENSP00000329243:S2P	ENSP00000329243:S2P	S	+	1	0	KRT7	50913351	0.997000	0.39634	0.991000	0.47740	0.050000	0.14768	1.075000	0.30716	1.977000	0.57605	0.375000	0.23000	TCC		0.731	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		22	102	0	0	0	1	0	22	102					C	52627084	T	C	52627084	3	2	79	1	0	0	0	0	1	0	0	0	8513	1667	58	4	6	4	KRT7	12	52627084	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156478	52627084	81224811	13320	23637											
KRT81	3887	broad.mit.edu	37	chr12	52685244	52685244	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaaatcctgatccgcaGgtcatgatcctcctggacgt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	2	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(4-6)acC>acA		keratin 81							27	31	30					12																	52685244		2178	4236	6414	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685244G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.6C>A	12.37:g.52685244G>T						KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.T2T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	74	-			2			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.6C>A	CCDS31805.1																																																																																				0.647	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		22	95	1	0	1.10923e-09	1	1.16946e-09	22	95					T	52685244	G	T	52685244	2	4	79	1	0	0	0	0	0	0	0	1	8525	987	35	3		3	KRT81	12	52685244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58160	52685244	81166651	13321	23638											
KRT86	3892	broad.mit.edu	37	chr12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcccctgttgtctccAccagagtcagtagcgtcccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000423955.2	+	11	1529	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.T451A			O43790	KRT86_HUMAN	keratin 86	451	Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(1351-1353)Acc>Gcc		keratin 86							22	27	26					12																	52702259		2199	4295	6494	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52702259A>G	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1351A>G	12.37:g.52702259A>G	ENSP00000444533:p.Thr451Ala					KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|KRT86_ENST00000423955.2_Missense_Mutation_p.T451A	p.T451A	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1403	+			451			Tail.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.1351A>G	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220419	0.22457	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81247	-1.47;-1.47;-1.47	5.42	-0.186	0.13272	.	0.281067	0.25225	U	0.032219	T	0.64605	0.2613	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.22109	T	0.4	.	8.6059	0.33773	0.6135:0.0:0.3865:0.0	.	451	O43790	KRT86_HUMAN	A	451	ENSP00000443169:T451A;ENSP00000444533:T451A;ENSP00000293525:T451A	ENSP00000293525:T451A	T	+	1	0	AC021066.1;KRT86	50988526	0.000000	0.05858	0.308000	0.25141	0.577000	0.36160	-0.796000	0.04575	0.016000	0.14998	-0.379000	0.06801	ACC		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		38	174	0	0	0	1	0	38	174					G	52702259	A	G	52702259	3	3	79	1	0	0	0	0	1	0	0	0	8530	159	6	4	1385	4	KRT86	12	52702259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17015	52702259	81149636	13322	23639											
KRT83	3889	broad.mit.edu	37	chr12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttgacaaccacggagGtgtctgagatgtgggattgg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	262	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(784-786)aCc>aAc		keratin 83							148	129	135					12																	52710773		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710773G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.785C>A	12.37:g.52710773G>T	ENSP00000293670:p.Thr262Asn						p.T262N	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	847	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		262			Linker 12.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.785C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886649	0.72410	.	.	ENSG00000170523	ENST00000293670	T	0.77229	-1.08	3.9	3.0	0.34707	Filament (1);	0.164011	0.28332	U	0.015740	D	0.89646	0.6775	H	0.95504	3.68	0.39581	D	0.969431	P	0.49559	0.925	P	0.61658	0.892	D	0.91465	0.5192	10	0.87932	D	0	.	11.594	0.50962	0.0897:0.0:0.9103:0.0	.	262	P78385	KRT83_HUMAN	N	262	ENSP00000293670:T262N	ENSP00000293670:T262N	T	-	2	0	KRT83	50997040	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	5.582000	0.67477	0.763000	0.33175	0.561000	0.74099	ACC		0.547	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		95	416	1	0	6.51614e-51	1	8.07965e-51	95	416					T	52710773	G	T	52710773	3	4	79	1	0	0	0	0	1	0	0	0	8527	1261	44	3	716	3	KRT83	12	52710773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8514	52710773	81141122	13323	23640											
KRT83	3889	broad.mit.edu	37	chr12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggcggaacccacagcCtatggagttgaagccacagg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	9	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(25-27)Ggc>Agc		keratin 83							58	59	58					12																	52715095		2199	4298	6497	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715095C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.25G>A	12.37:g.52715095C>T	ENSP00000293670:p.Gly9Ser						p.G9S	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	87	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		9			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.25G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545433	0.00926	.	.	ENSG00000170523	ENST00000293670	D	0.88354	-2.37	3.26	1.37	0.22104	.	.	.	.	.	T	0.68229	0.2978	N	0.04297	-0.235	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.57849	-0.7740	9	0.02654	T	1	.	2.928	0.05791	0.2924:0.4635:0.1483:0.0957	.	9	P78385	KRT83_HUMAN	S	9	ENSP00000293670:G9S	ENSP00000293670:G9S	G	-	1	0	KRT83	51001362	0.000000	0.05858	0.076000	0.20297	0.008000	0.06430	-0.283000	0.08433	0.221000	0.20879	-1.186000	0.01703	GGC		0.627	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		109	470	0	0	0	1	0	109	470					T	52715095	C	T	52715095	3	4	79	1	0	0	0	0	1	0	0	0	8527	681	24	2	1492	2	KRT83	12	52715095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4322	52715095	81136800	13324	23641											
KRT85	3891	broad.mit.edu	37	chr12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgctctcgcagcagcGctggttctggtagaactgcc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R162S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622																																						ENST00000257901.3																			1	Substitution - Missense(1)	p.R162S(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(484-486)Cgc>Tgc		keratin 85							51	52	52					12																	52758891		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758891G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.484C>T	12.37:g.52758891G>A	ENSP00000257901:p.Arg162Cys						p.R162C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	559	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		162			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.484C>T	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591234	0.46214	.	.	ENSG00000135443	ENST00000257901	T	0.76186	-1.0	4.51	-1.86	0.07760	Filament (1);	2.754660	0.00855	N	0.001868	T	0.78780	0.4337	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.58820	0.846	T	0.66705	-0.5856	10	0.87932	D	0	.	8.8268	0.35061	0.0:0.1999:0.195:0.6051	.	162	P78386	KRT85_HUMAN	C	162	ENSP00000257901:R162C	ENSP00000257901:R162C	R	-	1	0	KRT85	51045158	0.001000	0.12720	0.000000	0.03702	0.413000	0.31143	-0.345000	0.07770	-0.134000	0.11516	0.491000	0.48974	CGC		0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		95	342	0	0	0	1	0	95	342					A	52758891	G	A	52758891	3	1	79	1	0	0	0	0	1	0	0	0	8529	1087	38	1	1071	1	KRT85	12	52758891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43796	52758891	81093004	13325	23642											
KRT82	3888	broad.mit.edu	37	chr12	52793859	52793859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgatgatgccgtccacGtccagctcccggctgttgtc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	284	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCCGTCCACGTCCAGCTCCC	0.612																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(850-852)gaC>gaT		keratin 82							101	85	90					12																	52793859		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793859G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.852C>T	12.37:g.52793859G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.D284D	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	929	-			284			Coil 2.|Rod.			Silent	SNP	ENST00000257974.2	37	c.852C>T	CCDS8826.1																																																																																				0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		15	455	0	0	0	1	0	15	455					A	52793859	G	A	52793859	2	1	79	1	0	0	0	0	0	0	0	1	8526	1136	40	1		1	KRT82	12	52793859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34968	52793859	81058036	13326	23643											
KRT82	3888	broad.mit.edu	37	chr12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgggtgaccatccggGgcatgacagccgagtatgag	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	25	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(73-75)cCc>cTc		keratin 82							36	32	33					12																	52799988		2202	4298	6500	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799988G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.74C>T	12.37:g.52799988G>A	ENSP00000257974:p.Pro25Leu						p.P25L	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	151	-			25			Head.			Missense_Mutation	SNP	ENST00000257974.2	37	c.74C>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785530	0.70337	.	.	ENSG00000161850	ENST00000257974	D	0.82526	-1.62	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.87265	0.6134	L	0.48986	1.54	0.58432	D	0.999992	D	0.62365	0.991	P	0.58013	0.831	D	0.87670	0.2540	10	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	25	Q9NSB4	KRT82_HUMAN	L	25	ENSP00000257974:P25L	ENSP00000257974:P25L	P	-	2	0	KRT82	51086255	0.077000	0.21312	0.570000	0.28473	0.419000	0.31324	1.176000	0.31957	2.571000	0.86741	0.655000	0.94253	CCC		0.632	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		27	130	0	0	0	1	0	27	130					A	52799988	G	A	52799988	3	1	79	1	0	0	0	0	1	0	0	0	8526	1232	43	2	1503	2	KRT82	12	52799988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6129	52799988	81051907	13327	23644											
KRT6C	286887	broad.mit.edu	37	chr12	52863465	52863465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacctacctgcactcctcGccctccagcagcttgcggta	8	17	0	0	rs371806019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1411-1413)ggC>ggT		keratin 6C		G		0,4406		0,0,2203	98	88	91		1413	-1.2	1	12		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		471/565	52863465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863465G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1413C>T	12.37:g.52863465G>A							p.G471G	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1460	-			471			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.1413C>T	CCDS8829.1																																																																																				0.582	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		91	468	0	0	0	1	0	91	468					A	52863465	G	A	52863465	2	1	79	1	0	0	0	0	0	0	0	1	8512	1074	38	1		1	KRT6C	12	52863465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63477	52863465	80988430	13328	23645											
KRT6C	286887	broad.mit.edu	37	chr12	52864412	52864412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgacctgcagctcctcGtactgcagcccagaggtgga	13	13	0	2	rs371866175	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	ENST00000252250.6	-	6	1127	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	360	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCAGCTCCTCGTACTGCAGCC	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22915	0.0		0.0	False		,,,				2504	0.001					ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1078-1080)taC>taT		keratin 6C		G		1,4403	2.1+/-5.4	0,1,2201	70	63	65		1080	-2.9	1	12		65	2,8558	2.2+/-6.3	0,2,4278	no	coding-synonymous	KRT6C	NM_173086.4		0,3,6479	AA,AG,GG		0.0234,0.0227,0.0231		360/565	52864412	3,12961	2202	4280	6482	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864412G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1080C>T	12.37:g.52864412G>A							p.Y360Y	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	6	1127	-			360			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.1080C>T	CCDS8829.1																																																																																				0.542	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		58	330	0	0	0	1	0	58	330					A	52864412	G	A	52864412	2	1	79	1	0	0	0	0	0	0	0	1	8512	1140	40	1		1	KRT6C	12	52864412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	52864412	80987483	13329	23646											
KRT6A	3853	broad.mit.edu	37	chr12	52886914	52886914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagcctggctgagttgGcactgaaaccccggcggctg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	ENST00000330722.6	-	1	127	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	20	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGTTGGCACTGAAACC	0.647																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(58-60)gCc>gTc		keratin 6A							21	27	25					12																	52886914		2187	4275	6462	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886914G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.59C>T	12.37:g.52886914G>A	ENSP00000369317:p.Ala20Val						p.A20V	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	127	-			20			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.59C>T	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035418	0.35893	.	.	ENSG00000205420	ENST00000330722	T	0.60797	0.16	5.24	5.24	0.73138	.	0.565980	0.16908	N	0.194583	T	0.58495	0.2126	L	0.56769	1.78	0.09310	N	0.999999	B	0.16603	0.018	B	0.19391	0.025	T	0.49707	-0.8911	10	0.37606	T	0.19	.	19.2638	0.93979	0.0:0.0:1.0:0.0	.	20	P02538	K2C6A_HUMAN	V	20	ENSP00000369317:A20V	ENSP00000369317:A20V	A	-	2	0	KRT6A	51173181	0.998000	0.40836	0.282000	0.24776	0.297000	0.27493	6.746000	0.74866	2.626000	0.88956	0.549000	0.68633	GCC		0.647	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		58	270	0	0	0	1	0	58	270					A	52886914	G	A	52886914	3	1	79	1	0	0	0	0	1	0	0	0	8510	1203	42	2	1671	2	KRT6A	12	52886914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22502	52886914	80964981	13330	23647											
KRT5	3852	broad.mit.edu	37	chr12	52908948	52908948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctccaccgaggccgccGccaagacctccaccgaggcc	10	20	0	2	rs368027956|rs577328983	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	517	Tail.		G -> D (in K-EBS). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13264	0.0		0.0	False		,,,				2504	0.0					ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1549-1551)ggC>ggT		keratin 5				3,4403	6.2+/-15.9	0,3,2200	36	34	34		1551	-11.1	0	12		34	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		517/591	52908948	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52908948G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1551C>T	12.37:g.52908948G>A							p.G517G	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1941	-			517		G -> D (in K-EBS).	Tail.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1551C>T	CCDS8830.1																																																																																				0.632	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			34	162	0	0	0	1	0	34	162					A	52908948	G	A	52908948	2	1	79	1	0	0	0	0	0	0	0	1	8509	1074	38	1		1	KRT5	12	52908948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22034	52908948	80942947	13331	23648											
KRT5	3852	broad.mit.edu	37	chr12	52913904	52913904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggctccggctgccataGccacccactccacaagcacc	8	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	59	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(175-177)ggC>ggT		keratin 5							45	60	55					12																	52913904		2201	4293	6494	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913904G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.177C>T	12.37:g.52913904G>A							p.G59G	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	567	-			59			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.177C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635730	0.14322	.	.	ENSG00000186081	ENST00000456000	.	.	.	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2039	0.43101	0.2044:0.0:0.7956:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT5	51200171	0.992000	0.36948	0.814000	0.32528	0.075000	0.17131	0.863000	0.27913	0.836000	0.34901	-0.136000	0.14681	.		0.647	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			238	385	0	0	0	1	0	238	385					A	52913904	G	A	52913904	2	1	79	1	0	0	0	0	0	0	0	1	8509	958	34	2		2	KRT5	12	52913904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4956	52913904	80937991	13332	23649											
KRT74	121391	broad.mit.edu	37	chr12	52964522	52964522	+	Missense_Mutation	SNP	C	C	A													tcctcataatgcatgcggacCtcagcgatgatgctgtcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964522C>A	ENST00000305620.2	-	5	986	c.939G>T	c.(937-939)gaG>gaT	p.E313D	KRT74_ENST00000549343.1_Missense_Mutation_p.E313D	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	313	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCATGCGGACCTCAGCGATGA	0.587																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(937-939)gaG>gaT		keratin 74							128	99	109					12																	52964522		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964522C>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.939G>T	12.37:g.52964522C>A	ENSP00000307240:p.Glu313Asp					KRT74_ENST00000305620.2_Missense_Mutation_p.E313D	p.E313D			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	977	-			313			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.939G>T	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075854	0.20227	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.90133	-2.62;-2.62	4.49	2.61	0.31194	Filament (1);	0.226552	0.22688	N	0.056853	D	0.84474	0.5480	L	0.53780	1.695	0.26570	N	0.973584	B	0.18610	0.029	B	0.22880	0.042	T	0.75297	-0.3367	10	0.62326	D	0.03	.	0.5856	0.00719	0.2376:0.3655:0.1423:0.2546	.	313	Q7RTS7	K2C74_HUMAN	D	313	ENSP00000447447:E313D;ENSP00000307240:E313D	ENSP00000307240:E313D	E	-	3	2	KRT74	51250789	0.008000	0.16893	0.937000	0.37676	0.061000	0.15899	-0.982000	0.03762	1.174000	0.42811	0.655000	0.94253	GAG		0.587	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		10	284	1	0	1.58986e-06	1	1.64048e-06	10	284					A	52964522	C	A	52964522	3	1	79	1	0	0	0	0	1	0	0	0	8517	680	24	3	670	3	KRT74	12	52964522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50618	52964522	80887373	13333	23650	150	2									
KRT74	121391	broad.mit.edu	37	chr12	52964527	52964527	+	Missense_Mutation	SNP	C	C	T													ataatgcatgcggacctcagCgatgatgctgtcaaggtcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964527C>T	ENST00000305620.2	-	5	981	c.934G>A	c.(934-936)Gct>Act	p.A312T	KRT74_ENST00000549343.1_Missense_Mutation_p.A312T	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	312	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGACCTCAGCGATGATGCTG	0.582																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(934-936)Gct>Act		keratin 74							127	97	107					12																	52964527		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964527C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.934G>A	12.37:g.52964527C>T	ENSP00000307240:p.Ala312Thr					KRT74_ENST00000305620.2_Missense_Mutation_p.A312T	p.A312T			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	972	-			312			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.934G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044029	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.89343	-2.5;-2.5	4.49	-5.18	0.02840	Filament (1);	1.291780	0.05733	N	0.599964	D	0.86948	0.6056	M	0.83223	2.63	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.72659	-0.4226	10	0.72032	D	0.01	.	5.0395	0.14452	0.0934:0.2911:0.0922:0.5233	.	312	Q7RTS7	K2C74_HUMAN	T	312	ENSP00000447447:A312T;ENSP00000307240:A312T	ENSP00000307240:A312T	A	-	1	0	KRT74	51250794	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.364000	0.02590	-1.384000	0.02103	-0.182000	0.12963	GCT		0.582	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		33	258	0	0	0	1	0	33	258					T	52964527	C	T	52964527	3	4	79	1	0	0	0	0	1	0	0	0	8517	768	27	1	675	1	KRT74	12	52964527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	52964527	80887368	13334	23651	150	2									
KRT73	319101	broad.mit.edu	37	chr12	53010165	53010165	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctccaggaaccgcacCtggaacccatgccacacata	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1		RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			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)		GGAACCGCACCTGGAACCCAT	0.507																																						ENST00000305748.3																			0				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						c.e2-1		keratin 73							78	74	75					12																	53010165		2203	4300	6503	SO:0001630	splice_region_variant	319101					keratin filament	structural molecule activity	g.chr12:53010165C>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.448-1G>A	12.37:g.53010165C>T								NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	482	-								Q32MB2	Splice_Site	SNP	ENST00000305748.3	37		CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658507	0.67586	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.82	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5438	0.61690	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	KRT73	51296432	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.713000	0.84693	1.347000	0.45714	0.561000	0.74099	.		0.507	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	Intron	87	292	0	0	0	1	0	87	292					T	53010165	C	T	53010165	5	4	79	1	0	0	0	0	0	0	1	0	8516	695	24	2	1207	2	KRT73	12	53010165	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45638	53010165	80841730	13335	23652											
KRT2	3849	broad.mit.edu	37	chr12	53040535	53040535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcacctgcactcctcGccctccagcagtttgcggta	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	486	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1456-1458)ggC>ggT		keratin 2							85	77	79					12																	53040535		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53040535G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1458C>T	12.37:g.53040535G>A							p.G486G	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	7	1479	-			486			Coil 2.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.1458C>T	CCDS8835.1																																																																																				0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		44	555	0	0	0	1	0	44	555					A	53040535	G	A	53040535	2	1	79	1	0	0	0	0	0	0	0	1	8487	1074	38	1		1	KRT2	12	53040535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30370	53040535	80811360	13336	23653											
KRT2	3849	broad.mit.edu	37	chr12	53042884	53042884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtaggcattgtccacGtcctgcaagaaaggttgagg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	288	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(862-864)gaC>gaT		keratin 2							126	97	107					12																	53042884		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53042884G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.864C>T	12.37:g.53042884G>A							p.D288D	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	4	885	-			288			Coil 1B.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.864C>T	CCDS8835.1																																																																																				0.517	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		54	250	0	0	0	1	0	54	250					A	53042884	G	A	53042884	2	1	79	1	0	0	0	0	0	0	0	1	8487	1136	40	1		1	KRT2	12	53042884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2349	53042884	80809011	13337	23654											
KRT2	3849	broad.mit.edu	37	chr12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattctcagcagctgtgCgcttattgatttcatcctca	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	275	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(823-825)cGc>cAc		keratin 2							166	145	152					12																	53043735		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53043735C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.824G>A	12.37:g.53043735C>T	ENSP00000310861:p.Arg275His						p.R275H	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	3	845	-			275			Coil 1B.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.824G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000172867	ENST00000309680	D	0.89939	-2.59	5.44	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94046	0.8092	M	0.86268	2.805	0.36264	D	0.854743	D	0.89917	1.0	D	0.87578	0.998	D	0.95264	0.8371	9	0.72032	D	0.01	.	10.6753	0.45783	0.1324:0.7989:0.0:0.0687	.	275	P35908	K22E_HUMAN	H	275	ENSP00000310861:R275H	ENSP00000310861:R275H	R	-	2	0	KRT2	51330002	0.990000	0.36364	0.990000	0.47175	0.815000	0.46073	3.796000	0.55507	0.777000	0.33496	0.650000	0.86243	CGC		0.433	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		64	325	0	0	0	1	0	64	325					T	53043735	C	T	53043735	3	4	79	1	0	0	0	0	1	0	0	0	8487	768	27	1	1123	1	KRT2	12	53043735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851	53043735	80808160	13338	23655											
KRT2	3849	broad.mit.edu	37	chr12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttattcagctctgaaTtctgtgatgttctttctgca	8	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	251	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(751-753)aAt>aCt		keratin 2							219	213	215					12																	53044171		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53044171T>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.752A>C	12.37:g.53044171T>G	ENSP00000310861:p.Asn251Thr						p.N251T	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	2	773	-			251			Coil 1B.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.752A>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211168	0.95069	.	.	ENSG00000172867	ENST00000309680	D	0.88124	-2.34	5.19	4.05	0.47172	Filament (1);	.	.	.	.	D	0.89054	0.6606	L	0.54323	1.7	0.29659	N	0.843393	P	0.46064	0.872	P	0.53988	0.739	D	0.84714	0.0736	9	0.72032	D	0.01	.	11.0304	0.47769	0.0:0.0735:0.0:0.9265	.	251	P35908	K22E_HUMAN	T	251	ENSP00000310861:N251T	ENSP00000310861:N251T	N	-	2	0	KRT2	51330438	1.000000	0.71417	0.009000	0.14445	0.905000	0.53344	6.096000	0.71446	0.943000	0.37553	0.528000	0.53228	AAT		0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		198	845	0	0	0	1	0	198	845					G	53044171	T	G	53044171	3	3	79	1	0	0	0	0	1	0	0	0	8487	1493	52	4	1199	4	KRT2	12	53044171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	436	53044171	80807724	13339	23656											
KRT2	3849	broad.mit.edu	37	chr12	53045633	53045633	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccaaagctgctgccGcctccaaaaccacctcctct	4	21	1	0	rs182369139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045633G>T	ENST00000309680.3	-	1	315	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	98	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		agctgctgccgcctccaaaac	0.627																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(292-294)ggC>ggA		keratin 2							51	33	39					12																	53045633		2198	4298	6496	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045633G>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.294C>A	12.37:g.53045633G>T							p.G98G	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	315	-			98			Head.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.294C>A	CCDS8835.1																																																																																				0.627	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		14	98	1	0	3.27435e-08	1	3.41456e-08	14	98					T	53045633	G	T	53045633	2	4	79	1	0	0	0	0	0	0	0	1	8487	1074	38	3		3	KRT2	12	53045633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1462	53045633	80806262	13340	23657											
KRT2	3849	broad.mit.edu	37	chr12	53045841	53045841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccggcttccaccagacAccacagctgagccgctgctg	9	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	ENST00000309680.3	-	1	107	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACCAGACACCACAGCTGA	0.597																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(85-87)gTg>gCg		keratin 2							34	37	36					12																	53045841		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045841A>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.86T>C	12.37:g.53045841A>G	ENSP00000310861:p.Val29Ala						p.V29A	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	107	-			29			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.86T>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770392	0.31320	.	.	ENSG00000172867	ENST00000309680	D	0.81908	-1.55	5.28	1.42	0.22433	.	.	.	.	.	T	0.75679	0.3882	L	0.58354	1.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.58691	-0.7592	9	0.24483	T	0.36	.	5.7596	0.18192	0.5801:0.1323:0.2876:0.0	.	29	P35908	K22E_HUMAN	A	29	ENSP00000310861:V29A	ENSP00000310861:V29A	V	-	2	0	KRT2	51332108	0.020000	0.18652	0.001000	0.08648	0.963000	0.63663	1.979000	0.40608	0.058000	0.16222	0.379000	0.24179	GTG		0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		26	125	0	0	0	1	0	26	125					G	53045841	A	G	53045841	3	3	79	1	0	0	0	0	1	0	0	0	8487	159	6	4	1869	4	KRT2	12	53045841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	208	53045841	80806054	13341	23658											
KRT1	3848	broad.mit.edu	37	chr12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgacttgtacttacacAcactcacgttcggggcacat	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	503	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTACTTACACACACTCACGTT	0.498																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1507-1509)gTg>gCg		keratin 1							119	104	109					12																	53069496		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069496A>G	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1508T>C	12.37:g.53069496A>G	ENSP00000252244:p.Val503Ala						p.V503A	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			8	1566	-			503			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1508T>C	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887959	0.33348	.	.	ENSG00000167768	ENST00000252244	D	0.86030	-2.06	4.55	4.55	0.56014	.	.	.	.	.	T	0.74183	0.3683	N	0.14661	0.345	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.68284	-0.5449	9	0.87932	D	0	.	10.6929	0.45882	0.8572:0.0:0.0:0.1428	.	503	P04264	K2C1_HUMAN	A	503	ENSP00000252244:V503A	ENSP00000252244:V503A	V	-	2	0	KRT1	51355763	0.968000	0.33430	0.754000	0.31244	0.440000	0.31957	3.630000	0.54273	1.812000	0.52913	0.379000	0.24179	GTG		0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		91	442	0	0	0	1	0	91	442					G	53069496	A	G	53069496	3	3	79	1	0	0	0	0	1	0	0	0	8477	159	6	4	434	4	KRT1	12	53069496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23655	53069496	80782399	13342	23659											
KRT1	3848	broad.mit.edu	37	chr12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgatttgctccctttctcGagacttcaccttttggatct	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(535-537)Cga>Tga		keratin 1							255	238	244					12																	53073598		2203	4300	6503	SO:0001587	stop_gained	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53073598G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.535C>T	12.37:g.53073598G>A	ENSP00000252244:p.Arg179*						p.R179*	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			1	593	-			179		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).	Head.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Nonsense_Mutation	SNP	ENST00000252244.3	37	c.535C>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742985	0.96873	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.61	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.0804	0.64917	0.0:0.4309:0.5691:0.0	.	.	.	.	X	179	.	ENSP00000252244:R179X	R	-	1	2	KRT1	51359865	0.263000	0.24083	0.917000	0.36280	0.919000	0.55068	1.490000	0.35573	1.057000	0.40506	0.448000	0.29417	CGA		0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		106	521	0	0	0	1	0	106	521					A	53073598	G	A	53073598	4	1	79	1	0	0	0	0	0	1	0	0	8477	1066	37	1	1435	1	KRT1	12	53073598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4102	53073598	80778297	13343	23660											
KRT76	51350	broad.mit.edu	37	chr12	53165978	53165978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccaggtccaggcagCggttgttgtccatggacaga	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53165978C>T	ENST00000332411.2	-	5	1090	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	346	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTCCAGGCAGCGGTTGTTGTC	0.567																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1036-1038)cGc>cAc		keratin 76							85	71	75					12																	53165978		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165978C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1037G>A	12.37:g.53165978C>T	ENSP00000330101:p.Arg346His						p.R346H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			5	1090	-			346			Linker 12.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1037G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454347	0.84209	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	3.52	0.40303	Filament (1);	0.000000	0.45126	D	0.000382	D	0.91948	0.7450	M	0.75615	2.305	0.52501	D	0.999955	D	0.76494	0.999	D	0.67103	0.949	D	0.92559	0.6056	10	0.87932	D	0	.	12.8514	0.57860	0.0:0.9184:0.0:0.0816	.	346	Q01546	K22O_HUMAN	H	346	ENSP00000330101:R346H	ENSP00000330101:R346H	R	-	2	0	KRT76	51452245	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.984000	0.63838	1.169000	0.42739	0.462000	0.41574	CGC		0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		6	229	0	0	0	1	0	6	229					T	53165978	C	T	53165978	3	4	79	1	0	0	0	0	1	0	0	0	8519	768	27	1	899	1	KRT76	12	53165978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92380	53165978	80685917	13344	23661											
KRT76	51350	broad.mit.edu	37	chr12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtagaggctgCgactgccaaagctgcctgct	13	12	0	1	rs575967584		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79	101	94					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		15	837	0	0	0	1	0	15	837					T	53170909	C	T	53170909	3	4	79	1	0	0	0	0	1	0	0	0	8519	768	27	1	1785	1	KRT76	12	53170909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4931	53170909	80680986	13345	23662											
KRT3	3850	broad.mit.edu	37	chr12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattctcagcagctgtacGtttattgatttcatcctcat	5	10	4	1	rs201121196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	297	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(889-891)Cgt>Tgt		keratin 3							118	121	120					12																	53186985		2124	4286	6410	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53186985G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.889C>T	12.37:g.53186985G>A	ENSP00000413479:p.Arg297Cys					KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			3	963	-			297			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.889C>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854991	0.71719	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90069	-2.61;-2.61	4.59	4.59	0.56863	Filament (1);	0.142736	0.32769	N	0.005676	D	0.94647	0.8274	M	0.91768	3.24	0.48511	D	0.999661	D	0.67145	0.996	P	0.59115	0.852	D	0.95900	0.8914	10	0.87932	D	0	.	15.9243	0.79603	0.0:0.0:1.0:0.0	.	297	P12035	K2C3_HUMAN	C	297	ENSP00000413479:R297C;ENSP00000312206:R297C	ENSP00000312206:R297C	R	-	1	0	KRT3	51473252	0.848000	0.29623	0.998000	0.56505	0.982000	0.71751	2.361000	0.44160	2.263000	0.75096	0.561000	0.74099	CGT		0.443	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		18	55	0	0	0	1	0	18	55					A	53186985	G	A	53186985	3	1	79	1	0	0	0	0	1	0	0	0	8496	1145	40	1	1025	1	KRT3	12	53186985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16076	53186985	80664910	13346	23663											
KRT3	3850	broad.mit.edu	37	chr12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagccgctcccaaagccacCtccatagccacctgcaaagg	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	95	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(283-285)Ggt>Tgt		keratin 3							120	160	146					12																	53189544		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189544C>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.283G>T	12.37:g.53189544C>A	ENSP00000413479:p.Gly95Cys					KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	357	-			95			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.283G>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	9.383	1.073530	0.20147	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90732	-2.72;-2.72	4.95	0.391	0.16282	.	.	.	.	.	D	0.93664	0.7976	M	0.90483	3.12	0.32257	N	0.570634	D	0.71674	0.998	P	0.54372	0.75	D	0.92072	0.5665	9	0.48119	T	0.1	.	10.6718	0.45762	0.0:0.8556:0.0:0.1444	.	95	P12035	K2C3_HUMAN	C	95	ENSP00000413479:G95C;ENSP00000312206:G95C	ENSP00000312206:G95C	G	-	1	0	KRT3	51475811	0.001000	0.12720	0.900000	0.35374	0.473000	0.32948	0.351000	0.20096	-0.149000	0.11215	-0.438000	0.05819	GGT		0.642	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		71	635	1	0	1.52808e-22	1	1.72976e-22	71	635					A	53189544	C	A	53189544	3	1	79	1	0	0	0	0	1	0	0	0	8496	681	24	3	1639	3	KRT3	12	53189544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	53189544	80662351	13347	23664											
KRT4	3851	broad.mit.edu	37	chr12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgtgacccagccacacTcatggagatgcttttgttcc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000293774.4_Missense_Mutation_p.S138C|KRT4_ENST00000458244.2_Intron			P19013	K2C4_HUMAN	keratin 4	64	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(412-414)Agt>Tgt		keratin 4							114	132	126					12																	53207653		2107	4249	6356	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207653T>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.190A>T	12.37:g.53207653T>A	ENSP00000448220:p.Ser64Cys					KRT4_ENST00000458244.2_Intron|KRT4_ENST00000551956.1_Missense_Mutation_p.S64C	p.S138C			B4DRS2	B4DRS2_HUMAN			1	682	-			64					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.412A>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670130	0.47677	.	.	ENSG00000170477	ENST00000551956;ENST00000293774	D;T	0.86956	-2.19;2.12	5.0	3.82	0.43975	.	0.000000	0.56097	D	0.000024	D	0.89455	0.6720	M	0.72894	2.215	0.58432	D	0.999995	.	.	.	.	.	.	D	0.88758	0.3255	8	0.72032	D	0.01	.	8.6374	0.33957	0.0:0.1648:0.0:0.8352	.	.	.	.	C	64;138	ENSP00000448220:S64C;ENSP00000293774:S138C	ENSP00000293774:S138C	S	-	1	0	KRT4	51493920	.	.	0.787000	0.31911	0.595000	0.36748	.	.	0.976000	0.38417	0.477000	0.44152	AGT		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		213	926	0	0	0	1	0	213	926					A	53207653	T	A	53207653	3	1	79	1	0	0	0	0	1	0	0	0	8507	1551	54	5	1408	5	KRT4	12	53207653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18109	53207653	80644242	13348	23665											
KRT79	338785	broad.mit.edu	37	chr12	53224076	53224076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatttcatcctcgtaCctgttacacatgggagactc	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	233	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCTCGTACCTGTTACACA	0.572																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e3-1		keratin 79							154	119	131					12																	53224076		2203	4300	6503	SO:0001630	splice_region_variant	338785					keratin filament	structural molecule activity	g.chr12:53224076C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.699-1G>A	12.37:g.53224076C>T							p.K233_splice	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			3	733	-			233			Coil 1B.|Rod.		Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	37	c.698_splice	CCDS8839.1																																																																																				0.572	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	Silent	67	382	0	0	0	1	0	67	382					T	53224076	C	T	53224076	5	4	79	1	0	0	0	0	0	0	1	0	8522	521	18	2	936	2	KRT79	12	53224076	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16423	53224076	80627819	13349	23666											
KRT79	338785	broad.mit.edu	37	chr12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgtcgatgaaggaggCgaacttgttgttgagggtct	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	154	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGGAGGCGAACTTGTTG	0.612																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(460-462)Gcc>Acc		keratin 79							127	125	126					12																	53227585		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227585C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.460G>A	12.37:g.53227585C>T	ENSP00000328358:p.Ala154Thr						p.A154T	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	494	-			154			Coil 1A.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.460G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474512	0.84640	.	.	ENSG00000185640	ENST00000330553	D	0.95205	-3.64	4.26	4.26	0.50523	Filament (1);	0.000000	0.48286	D	0.000188	D	0.98049	0.9357	H	0.95114	3.625	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	D	0.98942	1.0791	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	154	Q5XKE5	K2C79_HUMAN	T	154	ENSP00000328358:A154T	ENSP00000328358:A154T	A	-	1	0	KRT79	51513852	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	7.602000	0.82796	2.643000	0.89663	0.591000	0.81541	GCC		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		136	755	0	0	0	1	0	136	755					T	53227585	C	T	53227585	3	4	79	1	0	0	0	0	1	0	0	0	8522	768	27	1	1183	1	KRT79	12	53227585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3509	53227585	80624310	13350	23667											
EIF4B	1975	broad.mit.edu	37	chr12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctatgattcccggataGgcagtggcagaagagcattt	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000262056.9	+	8	1149	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	275	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCCCGGATAGGCAGTGGCAG	0.473																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(823-825)Ggc>Tgc		eukaryotic translation initiation factor 4B							89	92	91					12																	53421816		1880	4117	5997	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421816G>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.823G>T	12.37:g.53421816G>T	ENSP00000262056:p.Gly275Cys					EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C	p.G275C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1149	+			275			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.823G>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200477	0.58126	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.57907	0.37;0.43;0.47;0.58	4.48	4.48	0.54585	.	0.062947	0.64402	D	0.000005	T	0.69735	0.3144	M	0.65498	2.005	0.51012	D	0.999909	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.72462	-0.4286	10	0.59425	D	0.04	.	14.7482	0.69505	0.0:0.0:1.0:0.0	.	236;275;251;275	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	275;275;251;236;230;229	ENSP00000262056:G275C;ENSP00000388806:G275C;ENSP00000449746:G230C;ENSP00000450324:G229C	ENSP00000262056:G275C	G	+	1	0	EIF4B	51708083	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.337000	0.65941	2.409000	0.81822	0.655000	0.94253	GGC		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		24	530	1	0	9.90768e-06	1	1.01656e-05	24	530					T	53421816	G	T	53421816	3	4	79	1	0	0	0	0	1	0	0	0	5045	1000	35	3	853	3	EIF4B	12	53421816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194231	53421816	80430079	13351	23668											
EIF4B	1975	broad.mit.edu	37	chr12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttggcagtgggtatcGcagggatgatgactacagag	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000262056.9	+	8	1183	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(856-858)cGc>cAc		eukaryotic translation initiation factor 4B							79	84	82					12																	53421850		1905	4129	6034	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421850G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.857G>A	12.37:g.53421850G>A	ENSP00000262056:p.Arg286His					EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H	p.R286H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1183	+			286			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.857G>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942603	0.73672	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54675	0.56;0.56;0.61;0.69	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.74647	2.275	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.98;0.98;0.98	T	0.75393	-0.3333	10	0.56958	D	0.05	.	16.088	0.81070	0.0:0.0:1.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	286;286;262;247;241;240	ENSP00000262056:R286H;ENSP00000388806:R286H;ENSP00000449746:R241H;ENSP00000450324:R240H	ENSP00000262056:R286H	R	+	2	0	EIF4B	51708117	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	9.089000	0.94137	2.292000	0.77174	0.655000	0.94253	CGC		0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		19	446	0	0	0	1	0	19	446					A	53421850	G	A	53421850	3	1	79	1	0	0	0	0	1	0	0	0	5045	1087	38	1	887	1	EIF4B	12	53421850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	53421850	80430045	13352	23669											
EIF4B	1975	broad.mit.edu	37	chr12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagcctcggagtactcCtaaggaagatgattcctctg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000262056.9	+	9	1351	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	342					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1024-1026)cCt>cAt		eukaryotic translation initiation factor 4B							67	62	64					12																	53427635		1807	4076	5883	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427635C>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1025C>A	12.37:g.53427635C>A	ENSP00000262056:p.Pro342His					EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H	p.P342H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			9	1351	+			342					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1025C>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391431	0.83011	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94184	-3.37;0.58;0.57	4.76	4.76	0.60689	.	0.175924	0.49916	D	0.000137	D	0.96414	0.8830	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.99	D	0.96833	0.9612	10	0.87932	D	0	.	17.2267	0.86972	0.0:1.0:0.0:0.0	.	303;342;318;342	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	342;342;318;303;297	ENSP00000262056:P342H;ENSP00000388806:P342H;ENSP00000449746:P297H	ENSP00000262056:P342H	P	+	2	0	EIF4B	51713902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.950000	0.75977	2.595000	0.87683	0.460000	0.39030	CCT		0.458	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		45	168	1	0	1.46156e-29	1	1.70844e-29	45	168					A	53427635	C	A	53427635	3	1	79	1	0	0	0	0	1	0	0	0	5045	681	24	3	1059	3	EIF4B	12	53427635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5785	53427635	80424260	13353	23670											
TENC1	23371	broad.mit.edu	37	chr12	53454543	53454543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccccctgtttcccaGgcaggcaccggaaaggcccc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000314250.6	+	20	3143	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	951	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(2851-2853)caG>caA		tensin like C1 domain containing phosphatase (tensin 2)							32	34	33					12																	53454543		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53454543G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2853G>A	12.37:g.53454543G>A						TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	p.Q951Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			20	3143	+			951			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.2853G>A	CCDS8843.1																																																																																				0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		20	172	0	0	0	1	0	20	172					A	53454543	G	A	53454543	2	1	79	1	0	0	0	0	0	0	0	1	15810	991	35	2		2	TENC1	12	53454543	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26908	53454543	80397352	13354	23671											
TENC1	23371	broad.mit.edu	37	chr12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctctgcagctctgaGctgtagcccccgcccgacac	11	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000314250.6	+	26	4201	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1304					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(3910-3912)aGc>aAc		tensin like C1 domain containing phosphatase (tensin 2)							45	47	47					12																	53456960		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53456960G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3911G>A	12.37:g.53456960G>A	ENSP00000319684:p.Ser1304Asn					TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	p.S1304N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			26	4201	+			1304					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3911G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820665	0.32145	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.91	3.01	0.34805	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.410378	0.23215	N	0.050621	T	0.22003	0.0530	L	0.37850	1.14	0.32095	N	0.591301	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.003	T	0.13899	-1.0492	10	0.49607	T	0.09	.	7.4795	0.27395	0.1205:0.0:0.8795:0.0	.	1302;1304;1207;1304;1314	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	N	1180;1314;1304;1294;676;1207;1302;1239	ENSP00000369232:S1180N;ENSP00000319756:S1314N;ENSP00000319684:S1304N;ENSP00000393362:S1294N;ENSP00000449363:S1207N;ENSP00000447021:S1302N;ENSP00000449361:S1239N	ENSP00000319684:S1304N	S	+	2	0	TENC1	51743227	0.973000	0.33851	1.000000	0.80357	0.982000	0.71751	1.105000	0.31086	0.997000	0.38969	0.511000	0.50034	AGC		0.607	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		26	302	0	0	0	1	0	26	302					A	53456960	G	A	53456960	3	1	79	1	0	0	0	0	1	0	0	0	15810	971	34	2	4122	2	TENC1	12	53456960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2417	53456960	80394935	13355	23672											
SOAT2	8435	broad.mit.edu	37	chr12	53497948	53497948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaggaaacactgagacGcacagagccccggacttggt	11	13	1	2	rs377417504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	32					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACACTGAGACGCACAGAGCCC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17017	0.001		0.0	False		,,,				2504	0.0					ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(94-96)acG>acA		sterol O-acyltransferase 2		G		1,4405	2.1+/-5.4	0,1,2202	106	97	100		96	-7.6	0	12		100	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		32/523	53497948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53497948G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.96G>A	12.37:g.53497948G>A							p.T32T	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			2	156	+			32					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.96G>A	CCDS8847.1																																																																																				0.547	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			64	335	0	0	0	1	0	64	335					A	53497948	G	A	53497948	2	1	79	1	0	0	0	0	0	0	0	1	14961	1074	38	1		1	SOAT2	12	53497948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40988	53497948	80353947	13356	23673											
CSAD	51380	broad.mit.edu	37	chr12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcttccccacctccttcGatgtgaatagggccaggggc	11	15	1	1	rs544766547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000444623.1	-	8	827	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000267085.4_Missense_Mutation_p.S214L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000542115.1_3'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CACCTCCTTCGATGTGAATAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19070	0.0		0.0	False		,,,				2504	0.001				Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(640-642)tCg>tTg		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						50	52	51					12																	53565117		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565117G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.560C>T	12.37:g.53565117G>A	ENSP00000415485:p.Ser187Leu					CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000444623.1_Missense_Mutation_p.S187L	p.S214L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			8	874	-			187					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.641C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281540	0.95489	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442	T;T;T	0.57273	0.41;0.41;0.41	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199464	0.44902	D	0.000412	T	0.81123	0.4757	H	0.95884	3.735	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65443	0.933;0.935	D	0.87121	0.2191	10	0.87932	D	0	-6.8019	18.2528	0.90009	0.0:0.0:1.0:0.0	.	214;187	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	L	276;214;187;187;187;81	ENSP00000267085:S214L;ENSP00000415485:S187L;ENSP00000410648:S187L	ENSP00000267085:S214L	S	-	2	0	CSAD	51851384	1.000000	0.71417	0.475000	0.27278	0.918000	0.54935	9.131000	0.94446	2.682000	0.91365	0.655000	0.94253	TCG		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		60	256	0	0	0	1	0	60	256					A	53565117	G	A	53565117	3	1	79	1	0	0	0	0	1	0	0	0	3934	1059	37	1	961	1	CSAD	12	53565117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67169	53565117	80286778	13357	23674											
ITGB7	3695	broad.mit.edu	37	chr12	53590575	53590575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtgctcacaaagggcaGcaccgttttgtccacaaagg	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000422257.3_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	202	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(604-606)Ctg>Ttg		integrin, beta 7							71	65	67					12																	53590575		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590575G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.604C>T	12.37:g.53590575G>A						ITGB7_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000422257.3_Silent_p.L202L	p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			6	835	-			202			VWFA.		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.604C>T	CCDS8849.1																																																																																				0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			30	134	0	0	0	1	0	30	134					A	53590575	G	A	53590575	2	1	79	1	0	0	0	0	0	0	0	1	7930	962	34	2		2	ITGB7	12	53590575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25458	53590575	80261320	13358	23675											
RARG	5916	broad.mit.edu	37	chr12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccggttcagggtcagccCgtcggagaaggtcatggtgt	17	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543726.1_Missense_Mutation_p.G269R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	291	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(871-873)Ggg>Agg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						104	91	96					12																	53607427		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607427C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.871G>A	12.37:g.53607427C>T	ENSP00000388510:p.Gly291Arg		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R	p.G291R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			8	1358	-			291			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.871G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391539	0.83011	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.999	D	0.99744	1.1016	10	0.87932	D	0	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	328;269;291;280	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	R	291;291;53;219;280;269;328	ENSP00000388510:G291R;ENSP00000377947:G291R;ENSP00000332695:G219R;ENSP00000343698:G280R;ENSP00000444335:G269R	ENSP00000332695:G219R	G	-	1	0	RARG	51893694	1.000000	0.71417	0.948000	0.38648	0.683000	0.39861	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	GGG		0.617	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		66	298	0	0	0	1	0	66	298					T	53607427	C	T	53607427	3	4	79	1	0	0	0	0	1	0	0	0	13104	652	23	1	505	1	RARG	12	53607427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16852	53607427	80244468	13359	23676											
RARG	5916	broad.mit.edu	37	chr12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccccagatccagctGcacgcggtggtctgcactgg	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	221	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(661-663)Cag>Tag		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						86	74	78					12																	53607995		2203	4300	6503	SO:0001587	stop_gained	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607995G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.661C>T	12.37:g.53607995G>A	ENSP00000388510:p.Gln221*					RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*	p.Q221*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			7	1148	-			221			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	ENST00000425354.2	37	c.661C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	40	8.151613	0.98678	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	5.37	4.48	0.54585	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.074	0.59077	0.0793:0.0:0.9207:0.0	.	.	.	.	X	221;221;149;210;199;258	.	ENSP00000332695:Q149X	Q	-	1	0	RARG	51894262	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.104000	0.57790	1.403000	0.46800	0.563000	0.77884	CAG		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		91	429	0	0	0	1	0	91	429					A	53607995	G	A	53607995	4	1	79	1	0	0	0	0	0	1	0	0	13104	1328	46	2	719	2	RARG	12	53607995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568	53607995	80243900	13360	23677											
ESPL1	9700	broad.mit.edu	37	chr12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcgagcctgaagcatctcGatcagactactgacacatac	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	847					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)			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						GAAGCATCTCGATCAGACTAC	0.478																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(2539-2541)Gat>Aat		extra spindle pole bodies homolog 1 (S. cerevisiae)							186	155	165					12																	53675330		2203	4300	6503	SO:0001583	missense	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.chr12:53675330G>A	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.2539G>A	12.37:g.53675330G>A	ENSP00000257934:p.Asp847Asn					ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			13	2630	+			847						Missense_Mutation	SNP	ENST00000257934.4	37	c.2539G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803375	0.31869	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.1	1.28	0.21552	.	0.656930	0.16737	N	0.201619	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.983	P;P	0.54431	0.752;0.57	T	0.06267	-1.0836	10	0.54805	T	0.06	.	7.4098	0.27011	0.346:0.0:0.654:0.0	.	58;847	B4DRU1;Q14674	.;ESPL1_HUMAN	N	847;522;847	ENSP00000257934:D847N;ENSP00000449831:D847N	ENSP00000257934:D847N	D	+	1	0	ESPL1	51961597	0.070000	0.21116	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	0.138000	0.18790	-0.224000	0.12420	GAT		0.478	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		111	499	0	0	0	1	0	111	499					A	53675330	G	A	53675330	3	1	79	1	0	0	0	0	1	0	0	0	5271	1058	37	1	2585	1	ESPL1	12	53675330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67335	53675330	80176565	13361	23678											
ESPL1	9700	broad.mit.edu	37	chr12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctgcagaaggttctaCagtcagggctgaagtttgta	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1248					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)			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						GAAGGTTCTACAGTCAGGGCT	0.557																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(3742-3744)Cag>Tag		extra spindle pole bodies homolog 1 (S. cerevisiae)							105	113	110					12																	53680262		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.chr12:53680262C>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.3742C>T	12.37:g.53680262C>T	ENSP00000257934:p.Gln1248*					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	3833	+			1248						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.3742C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921299	0.97936	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.06	3.23	0.37069	.	0.202468	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.1702	0.54155	0.0:0.3313:0.6686:0.0	.	.	.	.	X	1248;923;1248	.	ENSP00000257934:Q1248X	Q	+	1	0	ESPL1	51966529	0.963000	0.33076	0.335000	0.25508	0.198000	0.23893	2.103000	0.41806	0.835000	0.34877	-0.228000	0.12330	CAG		0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		135	601	0	0	0	1	0	135	601					T	53680262	C	T	53680262	4	4	79	1	0	0	0	0	0	1	0	0	5271	479	17	2	3808	2	ESPL1	12	53680262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4932	53680262	80171633	13362	23679											
AAAS	8086	broad.mit.edu	37	chr12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtagacaaggaggtagggtCcagggtccagataagaatgc	16	6	0	3	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	223					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAGGTAGGGTCCAGGGTCCAG	0.582																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(667-669)Gac>Aac		achalasia, adrenocortical insufficiency, alacrimia							148	139	142					12																	53708104		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53708104C>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.667G>A	12.37:g.53708104C>T	ENSP00000209873:p.Asp223Asn					AAAS_ENST00000550286.1_Missense_Mutation_p.D99N|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000549983.1_5'UTR	p.D223N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			7	832	-			223					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.667G>A	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267049	0.95399	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96073	-3.9;-3.89;-3.9;-0.01	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96428	0.9317	10	0.44086	T	0.13	-24.581	16.5538	0.84479	0.0:1.0:0.0:0.0	.	190;223	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	223;190;99;190	ENSP00000209873:D223N;ENSP00000377908:D190N;ENSP00000446885:D99N;ENSP00000448020:D190N	ENSP00000209873:D223N	D	-	1	0	AAAS	51994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.859000	0.98148	0.591000	0.81541	GAC		0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			108	633	0	0	0	1	0	108	633					T	53708104	C	T	53708104	3	4	79	1	0	0	0	0	1	0	0	0	8	855	30	2	1013	2	AAAS	12	53708104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27842	53708104	80143791	13363	23680											
SP7	121340	broad.mit.edu	37	chr12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagaggtgtagacactgGgcagacagtcagaagagctg	15	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000536324.2	-	3	651	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_ENST00000303846.3_Missense_Mutation_p.P123H|SP7_ENST00000537210.2_Missense_Mutation_p.P105H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	123					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(367-369)cCc>cAc		Sp7 transcription factor							74	77	76					12																	53722858		1985	4172	6157	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722858G>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.368C>A	12.37:g.53722858G>T	ENSP00000443827:p.Pro123His					SP7_ENST00000537210.2_Missense_Mutation_p.P105H|SP7_ENST00000303846.3_Missense_Mutation_p.P123H	p.P123H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	651	-			123					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.368C>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030371	0.35797	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.33;3.33;3.33;0.96	3.79	2.85	0.33270	.	0.209202	0.39834	N	0.001260	T	0.42404	0.1201	N	0.24115	0.695	0.43540	D	0.995831	D	0.64830	0.994	P	0.59221	0.854	T	0.24333	-1.0163	10	0.37606	T	0.19	.	11.9609	0.53007	0.0:0.0:0.8241:0.1759	.	123	Q8TDD2	SP7_HUMAN	H	123;123;105;105	ENSP00000443827:P123H;ENSP00000302812:P123H;ENSP00000441367:P105H;ENSP00000449355:P105H	ENSP00000302812:P123H	P	-	2	0	SP7	52009125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.761000	0.55242	1.108000	0.41662	0.313000	0.20887	CCC		0.577	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			57	254	1	0	5.82388e-19	1	6.47979e-19	57	254					T	53722858	G	T	53722858	3	4	79	1	0	0	0	0	1	0	0	0	15019	1232	43	3	931	3	SP7	12	53722858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14754	53722858	80129037	13364	23681											
SP1	6667	broad.mit.edu	37	chr12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcaacatcattgctgCtatgccaaacctactccagc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000327443.4	+	3	778	c.680C>A	c.(679-681)gCt>gAt	p.A227D	SP1_ENST00000426431.2_Missense_Mutation_p.A220D	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	227	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(658-660)gCt>gAt		Sp1 transcription factor							118	104	109					12																	53776411		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776411C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.680C>A	12.37:g.53776411C>A	ENSP00000329357:p.Ala227Asp					SP1_ENST00000327443.4_Missense_Mutation_p.A227D	p.A220D	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	719	+			227			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.659C>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313154	0.60414	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08193	3.15;3.12	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000027	T	0.11452	0.0279	L	0.29908	0.895	0.58432	D	0.999999	P	0.52842	0.956	P	0.50270	0.636	T	0.18335	-1.0340	10	0.29301	T	0.29	.	16.2766	0.82646	0.0:1.0:0.0:0.0	.	227	P08047	SP1_HUMAN	D	227;220	ENSP00000329357:A227D;ENSP00000404263:A220D	ENSP00000329357:A227D	A	+	2	0	SP1	52062678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.211000	0.42825	2.456000	0.83038	0.467000	0.42956	GCT		0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			67	370	1	0	1.41595e-48	1	1.74838e-48	67	370					A	53776411	C	A	53776411	3	1	79	1	0	0	0	0	1	0	0	0	15009	797	28	3	690	3	SP1	12	53776411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	53776411	80075484	13365	23682											
AMHR2	269	broad.mit.edu	37	chr12	53818959	53818959	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgtccaggtgagtccatCtggatggcactggtgctgct	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000257863.4	+	4	515	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_Silent_p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	145					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(433-435)atC>atA		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						171	127	142					12																	53818959		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818959C>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.435C>A	12.37:g.53818959C>A						AMHR2_ENST00000379791.3_Silent_p.I145I|AMHR2_ENST00000550311.1_Silent_p.I145I	p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			4	515	+			145					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.435C>A	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		13	438	1	0	0.000151284	1	0.000153739	13	438					A	53818959	C	A	53818959	2	1	79	1	0	0	0	0	0	0	0	1	573	903	32	3		3	AMHR2	12	53818959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42548	53818959	80032936	13366	23683											
AMHR2	269	broad.mit.edu	37	chr12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G													ccgatttatcactgccagccINSgggggggtcctggccgcctg					rs374370282|rs369599312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs					AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		53	287						53	287	---	---	---	---	G	53819645	-	G	53819644	7	5	79	1	0	1	1	0	0	0	0	0	573	643	23	0	815	0	AMHR2	12	53819644	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	685	53819644	80032251	13367	23684											
AMHR2	269	broad.mit.edu	37	chr12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgctgcccagatttgaGgcctggtaaggatgggtggt	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000257863.4	+	9	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1282-1284)aGg>aAg		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						82	83	82					12																	53823757		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823757G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1283G>A	12.37:g.53823757G>A	ENSP00000257863:p.Arg428Lys					AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K	p.R428K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			9	1363	+			428			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1283G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224872	0.39300	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	T;T	0.64085	-0.08;-0.08	4.86	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.173220	0.06544	N	0.743676	T	0.49712	0.1573	L	0.31664	0.95	0.39683	D	0.970929	B;B	0.20164	0.034;0.042	B;B	0.26202	0.025;0.067	T	0.47446	-0.9117	10	0.29301	T	0.29	.	4.7159	0.12894	0.1342:0.0:0.6618:0.204	.	428;428	F8W1D2;Q16671	.;AMHR2_HUMAN	K	428	ENSP00000257863:R428K;ENSP00000446661:R428K	ENSP00000257863:R428K	R	+	2	0	AMHR2	52110024	0.038000	0.19896	0.844000	0.33320	0.981000	0.71138	0.976000	0.29462	1.282000	0.44496	0.557000	0.71058	AGG		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		131	531	0	0	0	1	0	131	531					A	53823757	G	A	53823757	3	1	79	1	0	0	0	0	1	0	0	0	573	1000	35	2	1317	2	AMHR2	12	53823757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4113	53823757	80028138	13368	23685											
AMHR2	269	broad.mit.edu	37	chr12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaactgggcaatacccCtacctctgatgagctatggg	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in PMDS2). {ECO:0000269|PubMed:8872466}.		Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1342-1344)cCt>cTt		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						251	214	226					12																	53823984		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823984C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1343C>T	12.37:g.53823984C>T	ENSP00000257863:p.Pro448Leu					AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Silent_p.L447L	p.P448L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			10	1423	+			448		Missing (in PMDS2).	Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1343C>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034635	0.75617	.	.	ENSG00000135409	ENST00000257863	T	0.65178	-0.14	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	T	0.79423	0.4443	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81415	-0.0943	9	0.87932	D	0	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	448	Q16671	AMHR2_HUMAN	L	448	ENSP00000257863:P448L	ENSP00000257863:P448L	P	+	2	0	AMHR2	52110251	0.997000	0.39634	0.542000	0.28115	0.552000	0.35366	5.059000	0.64306	2.822000	0.97130	0.557000	0.71058	CCT		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		284	1052	0	0	0	1	0	284	1052					T	53823984	C	T	53823984	3	4	79	1	0	0	0	0	1	0	0	0	573	681	24	2	1381	2	AMHR2	12	53823984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	53823984	80027911	13369	23686											
AMHR2	269	broad.mit.edu	37	chr12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgcccctaccatccTcccctgtaggcctcagcgga	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000257863.4	+	11	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	542					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1624-1626)cTc>cAc		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						121	103	109					12																	53825160		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53825160T>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1625T>A	12.37:g.53825160T>A	ENSP00000257863:p.Leu542His					AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H|AMHR2_ENST00000550311.1_3'UTR	p.L542H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			11	1705	+			542					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1625T>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771421	0.31320	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94687	-3.44;-3.49	4.86	2.52	0.30459	.	0.512495	0.14745	N	0.300902	D	0.89371	0.6696	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.82414	-0.0469	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.2264:0.0:0.7736	.	542	Q16671	AMHR2_HUMAN	H	542;447	ENSP00000257863:L542H;ENSP00000369117:L447H	ENSP00000257863:L542H	L	+	2	0	AMHR2	52111427	0.000000	0.05858	0.215000	0.23724	0.606000	0.37113	-0.026000	0.12392	0.973000	0.38340	0.460000	0.39030	CTC		0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		97	383	0	0	0	1	0	97	383					A	53825160	T	A	53825160	3	1	79	1	0	0	0	0	1	0	0	0	573	1551	54	5	1667	5	AMHR2	12	53825160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1176	53825160	80026735	13370	23687											
PCBP2	5094	broad.mit.edu	37	chr12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgacgcatggcaacaccgGattcagtggtatggatacct	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000439930.3	+	10	813	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	264					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(790-792)gGa>gAa		poly(rC) binding protein 2							163	139	147					12																	53861069		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861069G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.791G>A	12.37:g.53861069G>A	ENSP00000408949:p.Gly264Glu					PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Missense_Mutation_p.G264E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E	p.G264E	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			11	1141	+			264					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.791G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959545	0.74016	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.84;1.41;1.44;1.4;1.41;1.45;1.34;1.34;1.81;1.4;1.4;1.44	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.56187	0.1968	M	0.64404	1.975	0.80722	D	1	P;P;B;B;D;B;B;B;B;B;B	0.63880	0.639;0.73;0.039;0.076;0.993;0.047;0.004;0.039;0.076;0.149;0.023	B;B;B;B;D;B;B;B;B;B;B	0.64595	0.305;0.382;0.067;0.236;0.927;0.082;0.037;0.067;0.104;0.236;0.03	T	0.44559	-0.9320	10	0.26408	T	0.33	.	18.6361	0.91379	0.0:0.0:1.0:0.0	.	233;260;221;264;206;233;229;260;229;264;260	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	E	260;229;233;229;264;219;264;206;260;260;221;233;229;233;181;93	ENSP00000446130:G260E;ENSP00000352228:G229E;ENSP00000394116:G233E;ENSP00000390304:G229E;ENSP00000408949:G264E;ENSP00000447670:G219E;ENSP00000352438:G264E;ENSP00000448762:G260E;ENSP00000448927:G260E;ENSP00000449070:G233E;ENSP00000388008:G229E;ENSP00000449062:G233E	ENSP00000352228:G229E	G	+	2	0	PCBP2	52147336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.702000	0.92279	0.655000	0.94253	GGA		0.463	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		77	329	0	0	0	1	0	77	329					A	53861069	G	A	53861069	3	1	79	1	0	0	0	0	1	0	0	0	11543	1174	41	2	829	2	PCBP2	12	53861069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35909	53861069	79990826	13371	23688											
PCBP2	5094	broad.mit.edu	37	chr12	53873226	53873226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtggcatggggagcagctaGaacaatgcagattcatccat	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000439930.3	+	14	1120	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000552296.2_Silent_p.*362*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000455667.3_Silent_p.*319*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1096-1098)taG>taA		poly(rC) binding protein 2							151	127	135					12																	53873226		2203	4300	6503	SO:0001819	synonymous_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53873226G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.1098G>A	12.37:g.53873226G>A						PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000439930.3_Silent_p.*366*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000552296.2_Silent_p.*362*	p.*366*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			15	1448	+			0					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	c.1098G>A	CCDS44901.1																																																																																				0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		40	137	0	0	0	1	0	40	137					A	53873226	G	A	53873226	2	1	79	1	0	0	0	0	0	0	0	1	11543	937	33	2		2	PCBP2	12	53873226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12157	53873226	79978669	13372	23689											
MAP3K12	7786	broad.mit.edu	37	chr12	53879181	53879181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgtccctgcaaaggacatCttggtgctcttgtcactcag	9	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53879181C>A	ENST00000267079.2	-	6	1026	c.801G>T	c.(799-801)aaG>aaT	p.K267N	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAAAGGACATCTTGGTGCTCT	0.502																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(799-801)aaG>aaT		mitogen-activated protein kinase kinase kinase 12							217	207	211					12																	53879181		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879181C>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.801G>T	12.37:g.53879181C>A	ENSP00000267079:p.Lys267Asn					MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	p.K267N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			6	1026	-			267			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.801G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595786	0.66332	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.83673	-1.75;-1.75;-1.75	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000284	T	0.81777	0.4894	L	0.28458	0.855	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.44224	0.316;0.444	T	0.82422	-0.0465	10	0.59425	D	0.04	.	17.24	0.87010	0.0:1.0:0.0:0.0	.	300;267	G3V1Y2;Q12852	.;M3K12_HUMAN	N	267;300;300	ENSP00000267079:K267N;ENSP00000449038:K300N;ENSP00000448689:K300N	ENSP00000267079:K267N	K	-	3	2	MAP3K12	52165448	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.669000	0.25142	2.688000	0.91661	0.561000	0.74099	AAG		0.502	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		38	1169	1	0	1.26612e-14	1	1.37737e-14	38	1169					A	53879181	C	A	53879181	3	1	79	1	0	0	0	0	1	0	0	0	9287	912	32	3	1818	3	MAP3K12	12	53879181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5955	53879181	79972714	13373	23690											
MAP3K12	7786	broad.mit.edu	37	chr12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatggtccagacagggcGcaggcagccaaagaggccct	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)Cgc>Tgc		mitogen-activated protein kinase kinase kinase 12							82	67	72					12																	53880791		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880791G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.286C>T	12.37:g.53880791G>A	ENSP00000267079:p.Arg96Cys					MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	p.R96C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			3	511	-			96					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.286C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	MAP3K12	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		76	349	0	0	0	1	0	76	349					A	53880791	G	A	53880791	3	1	79	1	0	0	0	0	1	0	0	0	9287	1087	38	1	2345	1	MAP3K12	12	53880791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1610	53880791	79971104	13374	23691											
TARBP2	8620	broad.mit.edu	37	chr12	53898552	53898552	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtctgggccagcccaccGcaaagaattcaccatgacct	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53898552G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000266987.2_Missense_Mutation_p.R189H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCAGCCCACCGCAAAGAATTC	0.587																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(565-567)cGc>cAc		TAR (HIV-1) RNA binding protein 2							78	78	78					12																	53898552		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898552G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898552G>A						TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H	p.R189H	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			6	1049	+			189			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.566G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670256	0.88348	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000394357;ENST00000550407	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.9	4.9	0.64082	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	N	0.17674	0.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83445	0.0045	10	0.66056	D	0.02	-28.2955	17.3565	0.87337	0.0:0.0:1.0:0.0	.	189;189	A8K3X2;Q15633	.;TRBP2_HUMAN	H	189;168;98;168;90	ENSP00000266987:R189H;ENSP00000416077:R168H;ENSP00000449537:R98H;ENSP00000377885:R168H	ENSP00000266987:R189H	R	+	2	0	TARBP2	52184819	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.175000	0.71949	2.717000	0.92951	0.491000	0.48974	CGC		0.587	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		74	294	0	0	0	1	0	74	294					A	53898552	G	A	53898552	1	1	79	0	1	0	0	0	0	0	0	0	15608	1087	38	1		1	TARBP2	12	53898552	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17761	53898552	79953343	13375	23692											
TARBP2	8620	broad.mit.edu	37	chr12	53899866	53899866	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgcaaccaccagggaGgcagcccgtggtgaggctgc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53899866G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000266987.2_Silent_p.E345E|TARBP2_ENST00000394357.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCACCAGGGAGGCAGCCCGTG	0.632																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(1033-1035)gaG>gaA		TAR (HIV-1) RNA binding protein 2							41	39	39					12																	53899866		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899866G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899866G>A						TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000394357.2_Silent_p.E324E	p.E345E	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			9	1518	+			345			DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.		Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.1035G>A	CCDS8862.1																																																																																				0.632	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		49	246	0	0	0	1	0	49	246					A	53899866	G	A	53899866	1	1	79	0	1	0	0	0	0	0	0	0	15608	991	35	2		2	TARBP2	12	53899866	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	53899866	79952029	13376	23693											
NPFF	8620	broad.mit.edu	37	chr12	53901208	53901208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagcacagcccccGtctattaacagcagcagcac	8	17	2	0	rs369347574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame|RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	17					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18294	0.0		0.0	False		,,,				2504	0.0					ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(49-51)gaC>gaT		neuropeptide FF-amide peptide precursor		G		1,4405	2.1+/-5.4	0,1,2202	104	93	97		51	1.7	0	12		97	0,8600		0,0,4300	no	coding-synonymous	NPFF	NM_003717.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		17/114	53901208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53901208G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.51C>T	12.37:g.53901208G>A						RP11-793H13.10_ENST00000591834.1_Intron	p.D17D	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			1	214	-			17					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.51C>T	CCDS8862.1																																																																																				0.582	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		70	294	0	0	0	1	0	70	294					A	53901208	G	A	53901208	2	1	79	1	0	0	0	0	0	0	0	1	10618	1136	40	1		1	NPFF	12	53901208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	53901208	79950687	13377	23694											
HOXC13	3229	broad.mit.edu	37	chr12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagccgtcgggcgccctgCccggtgacgacctgtcctct	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	161					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(481-483)Ccc>Tcc		homeobox C13							17	18	18					12																	54333171		2200	4293	6493	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54333171C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.481C>T	12.37:g.54333171C>T	ENSP00000243056:p.Pro161Ser					HOXC-AS5_ENST00000512916.2_RNA	p.P161S	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN			1	637	+			161					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.481C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524974	0.27299	.	.	ENSG00000123364	ENST00000243056	T	0.35605	1.3	2.69	2.69	0.31865	.	0.068700	0.64402	D	0.000013	T	0.23410	0.0566	N	0.20610	0.595	0.51012	D	0.999909	B	0.17465	0.022	B	0.20184	0.028	T	0.07028	-1.0794	10	0.27785	T	0.31	.	13.2295	0.59933	0.0:1.0:0.0:0.0	.	161	P31276	HXC13_HUMAN	S	161	ENSP00000243056:P161S	ENSP00000243056:P161S	P	+	1	0	HOXC13	52619438	0.979000	0.34478	0.998000	0.56505	0.857000	0.48899	2.205000	0.42770	1.849000	0.53698	0.313000	0.20887	CCC		0.657	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			23	91	0	0	0	1	0	23	91					T	54333171	C	T	54333171	3	4	79	1	0	0	0	0	1	0	0	0	7342	739	26	2	483	2	HOXC13	12	54333171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431963	54333171	79518724	13378	23695											
HOXC11	3227	broad.mit.edu	37	chr12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccccgcacgcaacccccGccggcttctactcctcagtc	8	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000546378.1	+	1	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	135					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|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)			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(403-405)Gcc>Acc		homeobox C11							72	93	86					12																	54367428		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367428G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.403G>A	12.37:g.54367428G>A	ENSP00000446680:p.Ala135Thr					HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA	p.A135T			O43248	HXC11_HUMAN			1	519	+			135					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.403G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093691	0.20471	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42900	0.96;0.96	3.78	3.78	0.43462	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.166295	0.56097	D	0.000031	T	0.14527	0.0351	N	0.01464	-0.85	0.34893	D	0.745777	B	0.14012	0.009	B	0.12156	0.007	T	0.11792	-1.0573	10	0.30078	T	0.28	.	5.8294	0.18572	0.2113:0.0:0.7887:0.0	.	135	O43248	HXC11_HUMAN	T	135	ENSP00000446680:A135T;ENSP00000243082:A135T	ENSP00000243082:A135T	A	+	1	0	HOXC11	52653695	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.386000	0.81285	0.555000	0.69702	GCC		0.657	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			51	1389	0	0	0	1	0	51	1389					A	54367428	G	A	54367428	3	1	79	1	0	0	0	0	1	0	0	0	7340	1087	38	1	405	1	HOXC11	12	54367428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34257	54367428	79484467	13379	23696											
HOXC9	3225	broad.mit.edu	37	chr12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcctgtagcttcgcgcCcaagccggcagtgttcagca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	57					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGCTTCGCGCCCAAGCCGGCA	0.687																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(169-171)cCc>cTc		homeobox C9							39	38	38					12																	54394142		2202	4299	6501	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394142C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.170C>T	12.37:g.54394142C>T	ENSP00000302836:p.Pro57Leu					HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron	p.P57L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			1	240	+			57					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.170C>T	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515582	0.85389	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95885	-3.84;-3.84	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000001	D	0.97949	0.9325	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.98931	1.0787	10	0.87932	D	0	.	15.4974	0.75666	0.0:1.0:0.0:0.0	.	57	P31274	HXC9_HUMAN	L	57	ENSP00000423861:P57L;ENSP00000302836:P57L	ENSP00000302836:P57L	P	+	2	0	HOXC9	52680409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.268000	0.75426	0.561000	0.74099	CCC		0.687	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			52	273	0	0	0	1	0	52	273					T	54394142	C	T	54394142	3	4	79	1	0	0	0	0	1	0	0	0	7347	623	22	2	172	2	HOXC9	12	54394142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26714	54394142	79457753	13380	23697											
HOXC5	3222	broad.mit.edu	37	chr12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctacgtagccaattcaTtctataagcagagccccaat	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	9					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312492.2																			0				cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(25-27)Ttc>Gtc		homeobox C5							57	60	59					12																	54426931		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54426931T>G		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"Homeoboxes / ANTP class : HOXL subclass"	5127	protein-coding gene	gene with protein product		142973	"homeo box C5"	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.25T>G	12.37:g.54426931T>G	ENSP00000309336:p.Phe9Val		OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	p.F9V	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN			1	295	+			9						Missense_Mutation	SNP	ENST00000312492.2	37	c.25T>G	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845311	0.51164	.	.	ENSG00000172789	ENST00000312492	D	0.91068	-2.78	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000094	D	0.88872	0.6555	M	0.76727	2.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	D	0.88733	0.3238	10	0.36615	T	0.2	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	9	Q00444	HXC5_HUMAN	V	9	ENSP00000309336:F9V	ENSP00000309336:F9V	F	+	1	0	HOXC5	52713198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.182000	0.58310	2.209000	0.71365	0.533000	0.62120	TTC		0.493	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			19	329	0	0	0	1	0	19	329					G	54426931	T	G	54426931	3	3	79	1	0	0	0	0	1	0	0	0	7344	1493	52	4	27	4	HOXC5	12	54426931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32789	54426931	79424964	13381	23698											
HOXC4	3221	broad.mit.edu	37	chr12	54448914	54448914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctttcggcagctaccccGggtacttctgaagaccactc	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000609810.1_Silent_p.P240P|HOXC4_ENST00000303406.4_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	240					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(718-720)ccG>ccA		homeobox C4							18	20	20					12																	54448914		2203	4300	6503	SO:0001819	synonymous_variant	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448914G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.720G>A	12.37:g.54448914G>A						HOXC4_ENST00000303406.4_Silent_p.P240P	p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	766	+			240						Silent	SNP	ENST00000430889.2	37	c.720G>A	CCDS8873.1																																																																																				0.617	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			27	102	0	0	0	1	0	27	102					A	54448914	G	A	54448914	2	1	79	1	0	0	0	0	0	0	0	1	7343	1103	39	1		1	HOXC4	12	54448914	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21983	54448914	79402981	13382	23699											
SMUG1	23583	broad.mit.edu	37	chr12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttggcctgtgggttacGgggagagggatgcaggagcc	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	243					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(727-729)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							58	63	62					12																	54575966		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54575966G>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.727C>T	12.37:g.54575966G>A	ENSP00000424191:p.Arg243Cys					SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Intron	p.R243C	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN			3	789	-			243					A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.727C>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459475	0.43736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.56444	0.46;0.46;0.46	4.73	3.84	0.44239	Uracil-DNA glycosylase-like (3);	0.048032	0.85682	N	0.000000	T	0.68357	0.2992	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.68868	-0.5295	10	0.49607	T	0.09	.	7.3843	0.26874	0.0874:0.0:0.7468:0.1658	.	243	Q53HV7	SMUG1_HUMAN	C	243	ENSP00000338606:R243C;ENSP00000424191:R243C;ENSP00000384828:R243C	ENSP00000338606:R243C	R	-	1	0	SMUG1	52862233	1.000000	0.71417	0.362000	0.25862	0.853000	0.48598	4.942000	0.63547	1.121000	0.41925	-0.136000	0.14681	CGT		0.642	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		86	466	0	0	0	1	0	86	466					A	54575966	G	A	54575966	3	1	79	1	0	0	0	0	1	0	0	0	14868	1116	39	1	89	1	SMUG1	12	54575966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127052	54575966	79275929	13383	23700											
NFE2	4778	broad.mit.edu	37	chr12	54686881	54686881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggggcttaggtggcccTgctggcagcccaatgtccag	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_ENST00000312156.4_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	133	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(397-399)gcA>gcG		nuclear factor, erythroid 2							102	107	105					12																	54686881		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686881T>C	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.399A>G	12.37:g.54686881T>C						NFE2_ENST00000312156.4_Silent_p.A133A|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA	p.A133A			Q16621	NFE2_HUMAN			2	908	-			133			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.399A>G	CCDS8876.1																																																																																				0.582	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		126	609	0	0	0	1	0	126	609					C	54686881	T	C	54686881	2	2	79	1	0	0	0	0	0	0	0	1	10408	1567	55	4		4	NFE2	12	54686881	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110915	54686881	79165014	13384	23701											
ITGA5	3678	broad.mit.edu	37	chr12	54795226	54795226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcggggatgccagtcGcttactgggaatagcactgc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	808					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGCCAGTCGCTTACTGGGA	0.572																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2422-2424)agC>agT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							129	129	129					12																	54795226		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795226G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2424C>T	12.37:g.54795226G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.S808S	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			24	2685	-			808					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.2424C>T	CCDS8880.1																																																																																				0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			81	815	0	0	0	1	0	81	815					A	54795226	G	A	54795226	2	1	79	1	0	0	0	0	0	0	0	1	7909	1078	38	1		1	ITGA5	12	54795226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108345	54795226	79056669	13385	23702											
ITGA5	3678	broad.mit.edu	37	chr12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaaggagaagttgagaGcgatgtgaatcggcgagagt	17	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	607					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTGAGAGCGATGTGAAT	0.572																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1819-1821)gCt>gAt		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							164	181	175					12																	54797065		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797065G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1820C>A	12.37:g.54797065G>T	ENSP00000293379:p.Ala607Asp					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A607D	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			18	2081	-			607					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1820C>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047893	0.55110	.	.	ENSG00000161638	ENST00000293379	T	0.44482	0.92	5.17	4.25	0.50352	Integrin alpha-2 (1);	0.221093	0.44483	N	0.000444	T	0.44095	0.1277	L	0.58101	1.795	0.49915	D	0.999838	P	0.48350	0.909	P	0.48141	0.568	T	0.33369	-0.9871	10	0.40728	T	0.16	.	8.805	0.34932	0.0:0.1646:0.6651:0.1703	.	607	P08648	ITA5_HUMAN	D	607	ENSP00000293379:A607D	ENSP00000293379:A607D	A	-	2	0	ITGA5	53083332	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.325000	0.43840	1.247000	0.43917	0.561000	0.74099	GCT		0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			166	780	1	0	2.0813e-75	1	2.65401e-75	166	780					T	54797065	G	T	54797065	3	4	79	1	0	0	0	0	1	0	0	0	7909	971	34	3	1381	3	ITGA5	12	54797065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1839	54797065	79054830	13386	23703											
ITGA5	3678	broad.mit.edu	37	chr12	54802689	54802689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaccttggtgaactcGgcactgaagcctccttggca	9	14	2	2	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(631-633)gcC>gcT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)		A		1,4405	2.1+/-5.4	0,1,2202	110	100	103		633	-9.3	0.1	12	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	ITGA5	NM_002205.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		211/1050	54802689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54802689G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.633C>T	12.37:g.54802689G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A211A	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			5	894	-			211					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.633C>T	CCDS8880.1																																																																																				0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			62	220	0	0	0	1	0	62	220					A	54802689	G	A	54802689	2	1	79	1	0	0	0	0	0	0	0	1	7909	1103	39	1		1	ITGA5	12	54802689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	54802689	79049206	13387	23704											
NCKAP1L	3071	broad.mit.edu	37	chr12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtcatgggtgcctcAactccaatagccagtgccag	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	272					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGGTGCCTCAACTCCAATAG	0.483																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(814-816)Aac>Gac		NCK-associated protein 1-like							152	136	142					12																	54905762		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54905762A>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.814A>G	12.37:g.54905762A>G	ENSP00000293373:p.Asn272Asp					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D|NCKAP1L_ENST00000552211.1_3'UTR	p.N272D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			9	893	+			272					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.814A>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149071	0.57151	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	.	0.048494	0.85682	N	0.000000	T	0.44850	0.1313	L	0.45581	1.43	0.42139	D	0.991505	D	0.69078	0.997	D	0.80764	0.994	T	0.26052	-1.0114	10	0.12103	T	0.63	-15.1548	13.8042	0.63220	1.0:0.0:0.0:0.0	.	272	P55160	NCKPL_HUMAN	D	272;222	ENSP00000293373:N272D;ENSP00000445596:N222D	ENSP00000293373:N272D	N	+	1	0	NCKAP1L	53192029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	2.153000	0.67306	0.456000	0.33151	AAC		0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		83	356	0	0	0	1	0	83	356					G	54905762	A	G	54905762	3	3	79	1	0	0	0	0	1	0	0	0	10264	130	5	4	848	4	NCKAP1L	12	54905762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103073	54905762	78946133	13388	23705											
NCKAP1L	3071	broad.mit.edu	37	chr12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttccagagtcatccGcaacgccctcctgcagcaga	9	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R767H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAGTCATCCGCAACGCCCTC	0.512																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R767H(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2299-2301)cGc>cAc		NCK-associated protein 1-like							123	102	109					12																	54920455		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54920455G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2300G>A	12.37:g.54920455G>A	ENSP00000293373:p.Arg767His					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	p.R767H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			21	2379	+			767					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2300G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	NCKAP1L	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		37	230	0	0	0	1	0	37	230					A	54920455	G	A	54920455	3	1	79	1	0	0	0	0	1	0	0	0	10264	1087	38	1	2382	1	NCKAP1L	12	54920455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14693	54920455	78931440	13389	23706											
PDE1B	5153	broad.mit.edu	37	chr12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctccactctgtgaccGcacttccactctagtggcac	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000243052.3	+	12	1671	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	412	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTGTGACCGCACTTCCACT	0.572																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1234-1236)cGc>cAc		phosphodiesterase 1B, calmodulin-dependent							127	116	120					12																	54969384		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54969384G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1235G>A	12.37:g.54969384G>A	ENSP00000243052:p.Arg412His					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H	p.R412H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			12	1671	+			412			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1235G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022590	0.93462	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.84873	-1.91;-1.91;-1.91	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94791	0.8318	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96332	0.9244	10	0.87932	D	0	.	15.8505	0.78927	0.0:0.0:1.0:0.0	.	392;412	Q01064-2;Q01064	.;PDE1B_HUMAN	H	412;371;392	ENSP00000243052:R412H;ENSP00000442559:R371H;ENSP00000448519:R392H	ENSP00000243052:R412H	R	+	2	0	PDE1B	53255651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.699000	0.98703	2.402000	0.81655	0.655000	0.94253	CGC		0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			84	436	0	0	0	1	0	84	436					A	54969384	G	A	54969384	3	1	79	1	0	0	0	0	1	0	0	0	11676	1087	38	1	1334	1	PDE1B	12	54969384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48929	54969384	78882511	13390	23707											
LACRT	90070	broad.mit.edu	37	chr12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccagggcccctgctacaGctgccaagaagaggagagtg	14	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	11					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(31-33)gCt>gAt		lacritin							121	115	117					12																	55028594		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55028594G>T	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.32C>A	12.37:g.55028594G>T	ENSP00000257867:p.Ala11Asp					LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN			1	85	-			11						Missense_Mutation	SNP	ENST00000257867.4	37	c.32C>A	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970247	0.18659	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	2.95	0.34219	.	0.000000	0.32488	N	0.006040	T	0.39253	0.1071	N	0.19112	0.55	0.19945	N	0.999946	D	0.89917	1.0	D	0.79108	0.992	T	0.06844	-1.0804	9	0.87932	D	0	.	7.4512	0.27240	0.118:0.0:0.882:0.0	.	11	Q9GZZ8	LACRT_HUMAN	D	11	.	ENSP00000257867:A11D	A	-	2	0	LACRT	53314861	0.078000	0.21339	0.548000	0.28192	0.021000	0.10359	0.255000	0.18333	1.219000	0.43474	0.563000	0.77884	GCT		0.527	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		62	321	1	0	8.77104e-35	1	1.04431e-34	62	321					T	55028594	G	T	55028594	3	4	79	1	0	0	0	0	1	0	0	0	8627	971	34	3	404	3	LACRT	12	55028594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59210	55028594	78823301	13391	23708											
OR9K2	441639	broad.mit.edu	37	chr12	55524378	55524378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggagttgtgagtgtgCtgtatggtgctgtctttttt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(826-828)Ctg>Ttg		olfactory receptor, family 9, subfamily K, member 2							197	175	183					12																	55524378		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524378C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.826C>T	12.37:g.55524378C>T							p.L276L	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	914	+			276					B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.826C>T	CCDS31814.1																																																																																				0.438	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			132	521	0	0	0	1	0	132	521					T	55524378	C	T	55524378	2	4	79	1	0	0	0	0	0	0	0	1	11296	796	28	2		2	OR9K2	12	55524378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495784	55524378	78327517	13392	23709											
OR6C74	254783	broad.mit.edu	37	chr12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagccattttgacgcTcctggttacactggtattag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(613-615)cTc>cGc		olfactory receptor, family 6, subfamily C, member 74							94	86	89					12																	55641685		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641685T>G		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.614T>G	12.37:g.55641685T>G	ENSP00000342836:p.Leu205Arg						p.L205R	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	704	+			205						Missense_Mutation	SNP	ENST00000343870.4	37	c.614T>G	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.734754	0.30774	.	.	ENSG00000197706	ENST00000343870	T	0.39056	1.1	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.69860	0.3158	H	0.94385	3.53	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.69015	-0.5257	10	0.87932	D	0	.	7.3485	0.26676	0.0:0.0766:0.1464:0.777	.	205	A6NCV1	O6C74_HUMAN	R	205	ENSP00000342836:L205R	ENSP00000342836:L205R	L	+	2	0	OR6C74	53927952	0.003000	0.15002	0.094000	0.20943	0.230000	0.25150	1.468000	0.35332	2.196000	0.70406	0.451000	0.29950	CTC		0.368	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			25	386	0	0	0	1	0	25	386					G	55641685	T	G	55641685	3	3	79	1	0	0	0	0	1	0	0	0	11240	1551	54	4	616	4	OR6C74	12	55641685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117307	55641685	78210210	13393	23710											
OR6C1	390321	broad.mit.edu	37	chr12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgatgggattttcttgTgctgcgtttactctaatgtt	12	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(598-600)tgT>tgG		olfactory receptor, family 6, subfamily C, member 1							94	82	86					12																	55714983		2202	4300	6502	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714983T>G	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.600T>G	12.37:g.55714983T>G	ENSP00000368990:p.Cys200Trp						p.C200W	NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN			1	638	+			200					B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.600T>G	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	7.293	0.611552	0.14066	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	4.77	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.546234	0.18482	N	0.139892	T	0.00144	0.0004	L	0.49778	1.585	0.32672	N	0.516688	B	0.02656	0.0	B	0.12837	0.008	T	0.23797	-1.0178	10	0.54805	T	0.06	.	7.4666	0.27324	0.0:0.1527:0.5104:0.3369	.	200	Q96RD1	OR6C1_HUMAN	W	200	ENSP00000368990:C200W	ENSP00000368990:C200W	C	+	3	2	OR6C1	54001250	0.000000	0.05858	0.233000	0.24025	0.710000	0.40934	-2.652000	0.00856	-0.226000	0.09899	0.460000	0.39030	TGT		0.348	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		44	214	0	0	0	1	0	44	214					G	55714983	T	G	55714983	3	3	79	1	0	0	0	0	1	0	0	0	11232	1702	59	4	602	4	OR6C1	12	55714983	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73298	55714983	78136912	13394	23711											
OR6C3	254786	broad.mit.edu	37	chr12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctttttctttatctTcatgggggtgactgaatttt	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(307-309)tTc>tCc		olfactory receptor, family 6, subfamily C, member 3							99	104	103					12																	55725792		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725792T>C	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.308T>C	12.37:g.55725792T>C	ENSP00000368989:p.Phe103Ser						p.F103S	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	308	+			103						Missense_Mutation	SNP	ENST00000379667.1	37	c.308T>C	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553566	0.13374	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.18	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.131035	0.34802	N	0.003677	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40997	-0.9533	10	0.48119	T	0.1	.	3.5933	0.07997	0.2892:0.1431:0.0:0.5677	.	103	Q9NZP0	OR6C3_HUMAN	S	103	ENSP00000368989:F103S	ENSP00000368989:F103S	F	+	2	0	OR6C3	54012059	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	0.456000	0.21859	0.458000	0.26988	0.478000	0.44815	TTC		0.418	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			141	596	0	0	0	1	0	141	596					C	55725792	T	C	55725792	3	2	79	1	0	0	0	0	1	0	0	0	11234	1783	62	4	310	4	OR6C3	12	55725792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10809	55725792	78126103	13395	23712											
OR6C70	390327	broad.mit.edu	37	chr12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatcaatgatatttgaaGcacagaaatccaagttaaga	7	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(502-504)gCt>gAt		olfactory receptor, family 6, subfamily C, member 70							84	87	86					12																	55863420		2203	4299	6502	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863420G>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.503C>A	12.37:g.55863420G>T	ENSP00000329153:p.Ala168Asp					RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.A168D	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	502	-			168						Missense_Mutation	SNP	ENST00000327335.4	37	c.503C>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967877	0.00457	.	.	ENSG00000184954	ENST00000327335	T	0.37235	1.21	4.06	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.603436	0.14712	N	0.302876	T	0.20129	0.0484	N	0.17278	0.47	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.35968	-0.9767	10	0.02654	T	1	.	8.8381	0.35123	0.0:0.2561:0.4479:0.296	.	168	A6NIJ9	O6C70_HUMAN	D	168	ENSP00000329153:A168D	ENSP00000329153:A168D	A	-	2	0	OR6C70	54149687	0.000000	0.05858	0.095000	0.20976	0.265000	0.26407	0.110000	0.15437	-0.200000	0.10300	0.655000	0.94253	GCT		0.353	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			75	370	1	0	1.08321e-29	1	1.26665e-29	75	370					T	55863420	G	T	55863420	3	4	79	1	0	0	0	0	1	0	0	0	11239	971	34	3	437	3	OR6C70	12	55863420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137628	55863420	77988475	13396	23713											
OR10P1	121130	broad.mit.edu	37	chr12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcttacatccgcatcCtgggtgccatcctagcaatg	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(667-669)Ctg>Atg		olfactory receptor, family 10, subfamily P, member 1							123	104	110					12																	56031342		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031342C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	12.37:g.56031342C>A	ENSP00000308082:p.Leu223Met						p.L223M	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	699	+			223					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.667C>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG		0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			135	573	1	0	4.9668e-63	1	6.26529e-63	135	573					A	56031342	C	A	56031342	3	1	79	1	0	0	0	0	1	0	0	0	10957	680	24	3	669	3	OR10P1	12	56031342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167922	56031342	77820553	13397	23714											
METTL7B	196410	broad.mit.edu	37	chr12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtggccctactggagCtgggctgcggaaccggagcc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	77							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572																																						ENST00000394252.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(229-231)Ctg>Atg		methyltransferase like 7B							52	52	52					12																	56075767		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075767C>A		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"associated with lipid droplets 1"					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.229C>A	12.37:g.56075767C>A	ENSP00000377796:p.Leu77Met						p.L77M	NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN			1	438	+			77					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.229C>A	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000170439	ENST00000394252	T	0.12672	2.66	4.96	2.08	0.27032	Methyltransferase type 11 (1);	0.300406	0.32328	N	0.006246	T	0.33904	0.0879	M	0.82193	2.58	0.37317	D	0.909383	D	0.57899	0.981	D	0.65573	0.936	T	0.24870	-1.0148	10	0.87932	D	0	-31.231	8.4467	0.32847	0.0:0.6244:0.2933:0.0824	.	77	Q6UX53	MET7B_HUMAN	M	77	ENSP00000377796:L77M	ENSP00000377796:L77M	L	+	1	2	METTL7B	54362034	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.480000	0.35464	0.257000	0.21650	0.655000	0.94253	CTG		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		35	140	1	0	1.22384e-17	1	1.35282e-17	35	140					A	56075767	C	A	56075767	3	1	79	1	0	0	0	0	1	0	0	0	9547	796	28	3	231	3	METTL7B	12	56075767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44425	56075767	77776128	13398	23715											
ITGA7	3679	broad.mit.edu	37	chr12	56091492	56091492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacctgaagagcactgCggtgtcagccagggagccca	14	13	2	2	rs61733964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	ENST00000555728.1	-	10	1556	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000257880.7_Missense_Mutation_p.A510T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T			Q13683	ITA7_HUMAN	integrin, alpha 7	510					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGAGCACTGCGGTGTCAGCC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18035	0.0		0.0	False		,,,				2504	0.0					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1528-1530)Gca>Aca		integrin, alpha 7		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	71	70	70		1408,1117,1396	4.3	0	12	dbSNP_129	70	0,8600		0,0,4300	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	470/1142,373/1045,466/1138	56091492	2,13004	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091492C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1528G>A	12.37:g.56091492C>T	ENSP00000452387:p.Ala510Thr					ITGA7_ENST00000555728.1_Missense_Mutation_p.A510T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T	p.A510T			Q13683	ITA7_HUMAN			10	1747	-			510					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1528G>A		.	.	.	.	.	.	.	.	.	.	C	16.06	3.016975	0.54576	4.54E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	.	0.283792	0.28877	N	0.013856	T	0.62732	0.2452	L	0.39566	1.225	0.19300	N	0.999976	P;P;B;B	0.36354	0.464;0.549;0.452;0.359	B;B;B;B	0.35073	0.095;0.195;0.146;0.054	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.6156	0.68547	0.0:1.0:0.0:0.0	.	373;510;470;529	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	470;466;466;373;510;470;466;510;510	ENSP00000452120:A470T;ENSP00000257879:A466T;ENSP00000343009:A466T;ENSP00000393844:A373T;ENSP00000257880:A510T;ENSP00000377777:A470T;ENSP00000377776:A466T;ENSP00000452387:A510T	ENSP00000257879:A466T	A	-	1	0	ITGA7	54377759	0.638000	0.27225	0.014000	0.15608	0.061000	0.15899	3.031000	0.49728	2.130000	0.65690	0.561000	0.74099	GCA		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		14	418	0	0	0	1	0	14	418					T	56091492	C	T	56091492	3	4	79	1	0	0	0	0	1	0	0	0	7911	768	27	1	2085	1	ITGA7	12	56091492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15725	56091492	77760403	13399	23716											
ITGA7	3679	broad.mit.edu	37	chr12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggttcaagtacacatAcacagcaccccccagctctt	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000555728.1	-	8	1226	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H			Q13683	ITA7_HUMAN	integrin, alpha 7	400					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTACACATACACAGCACCC	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1198-1200)Tat>Cat		integrin, alpha 7							68	76	73					12																	56092293		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092293A>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1198T>C	12.37:g.56092293A>G	ENSP00000452387:p.Tyr400His					ITGA7_ENST00000555728.1_Missense_Mutation_p.Y400H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H	p.Y400H			Q13683	ITA7_HUMAN			8	1417	-			400					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1198T>C		.	.	.	.	.	.	.	.	.	.	A	21.6	4.171337	0.78452	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	D	0.85111	0.5622	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.87713	0.2568	10	0.87932	D	0	.	12.8385	0.57788	1.0:0.0:0.0:0.0	.	263;400;360;419	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	360;356;356;263;400;360;356;400;400	ENSP00000452120:Y360H;ENSP00000257879:Y356H;ENSP00000343009:Y356H;ENSP00000393844:Y263H;ENSP00000257880:Y400H;ENSP00000377777:Y360H;ENSP00000377776:Y356H;ENSP00000452387:Y400H	ENSP00000257879:Y356H	Y	-	1	0	ITGA7	54378560	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	9.239000	0.95389	1.988000	0.58038	0.459000	0.35465	TAT		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		82	382	0	0	0	1	0	82	382					G	56092293	A	G	56092293	3	3	79	1	0	0	0	0	1	0	0	0	7911	391	14	4	2423	4	ITGA7	12	56092293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	56092293	77759602	13400	23717											
ITGA7	3679	broad.mit.edu	37	chr12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgagtagccaaagcCggaggtcaggcgctccccag	14	13	1	1	rs200793865	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000555728.1	-	7	1115	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S			Q13683	ITA7_HUMAN	integrin, alpha 7	363					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCCAAAGCCGGAGGTCAGG	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		16863	0.003		0.0	False		,,,				2504	0.0					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1087-1089)Ggc>Agc		integrin, alpha 7							67	55	59					12																	56092537		2203	4299	6502	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092537C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1087G>A	12.37:g.56092537C>T	ENSP00000452387:p.Gly363Ser					ITGA7_ENST00000555728.1_Missense_Mutation_p.G363S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S	p.G363S			Q13683	ITA7_HUMAN			7	1306	-			363					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	C	6.925	0.540358	0.13250	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.46	4.46	0.54185	.	0.338675	0.28688	N	0.014478	T	0.31167	0.0788	N	0.01235	-0.94	0.42502	D	0.992937	B;B;B;P	0.36990	0.07;0.019;0.033;0.577	B;B;B;B	0.24006	0.011;0.008;0.011;0.05	T	0.51204	-0.8735	10	0.07030	T	0.85	.	10.1055	0.42530	0.2:0.8:0.0:0.0	.	226;363;323;382	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	323;319;319;226;363;323;319;363;363	ENSP00000452120:G323S;ENSP00000257879:G319S;ENSP00000343009:G319S;ENSP00000393844:G226S;ENSP00000257880:G363S;ENSP00000377777:G323S;ENSP00000377776:G319S;ENSP00000452387:G363S	ENSP00000257879:G319S	G	-	1	0	ITGA7	54378804	0.710000	0.27896	0.995000	0.50966	0.785000	0.44390	1.497000	0.35649	2.489000	0.83994	0.491000	0.48974	GGC		0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		51	279	0	0	0	1	0	51	279					T	56092537	C	T	56092537	3	4	79	1	0	0	0	0	1	0	0	0	7911	652	23	1	2538	1	ITGA7	12	56092537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	56092537	77759358	13401	23718											
ITGA7	3679	broad.mit.edu	37	chr12	56094883	56094883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgaccaatcatatccCgcgtctccaggatctggtcc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56094883C>T	ENST00000555728.1	-	4	498	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q			Q13683	ITA7_HUMAN	integrin, alpha 7	157					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCATATCCCGCGTCTCCAG	0.602																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(469-471)cGg>cAg		integrin, alpha 7							133	115	121					12																	56094883		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094883C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.470G>A	12.37:g.56094883C>T	ENSP00000452387:p.Arg157Gln					ITGA7_ENST00000555728.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q	p.R157Q			Q13683	ITA7_HUMAN			4	689	-			157					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.666291	0.47677	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.49720	0.95;0.95;0.95;0.77;0.95;0.95;0.95;0.95	4.47	3.57	0.40892	.	0.076639	0.49916	D	0.000122	T	0.61776	0.2374	M	0.64080	1.96	0.43885	D	0.996502	P;P;D;D	0.89917	0.758;0.906;0.999;1.0	P;B;D;P	0.71656	0.459;0.372;0.974;0.883	T	0.61013	-0.7148	10	0.39692	T	0.17	.	11.8786	0.52562	0.1759:0.8241:0.0:0.0	.	60;157;157;220	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	157;157;157;60;157;157;157;157;157	ENSP00000452120:R157Q;ENSP00000257879:R157Q;ENSP00000343009:R157Q;ENSP00000393844:R60Q;ENSP00000257880:R157Q;ENSP00000377777:R157Q;ENSP00000377776:R157Q;ENSP00000452387:R157Q	ENSP00000257879:R157Q	R	-	2	0	ITGA7	54381150	1.000000	0.71417	0.628000	0.29241	0.001000	0.01503	7.604000	0.82830	1.235000	0.43724	-0.324000	0.08512	CGG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		9	376	0	0	0	1	0	9	376					T	56094883	C	T	56094883	3	4	79	1	0	0	0	0	1	0	0	0	7911	652	23	1	3167	1	ITGA7	12	56094883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2346	56094883	77757012	13402	23719											
BLOC1S1	2647	broad.mit.edu	37	chr12	56113380	56113380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctacaaagggcagctgcagtCtgccccttcctagcccctgt	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56113380C>A	ENST00000548925.1	+	4	464	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	BLOC1S1_ENST00000549147.1_3'UTR|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|RP11-644F5.10_ENST00000549424.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000257895.5_5'Flank|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.S72Y|RDH5_ENST00000547072.1_5'Flank|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	150					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAGCTGCAGTCTGCCCCTTCC	0.577																																					Colon(112;1254 2715 13015)	ENST00000547076.1																			0				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						c.(214-216)tCt>tAt		biogenesis of lysosomal organelles complex-1, subunit 1							57	51	53					12																	56113380		2203	4300	6503	SO:0001583	missense	2647				cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding	g.chr12:56113380C>A	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"Biogenesis of lysosomal organelles complex-1 subunits"	4200	protein-coding gene	gene with protein product	"GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1", "BLOC-1 Subunit 1", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"	601444	"GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.449C>A	12.37:g.56113380C>A	ENSP00000447537:p.Ser150Tyr					BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.S150Y|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y|RP11-644F5.10_ENST00000549424.1_Intron	p.S72Y			P78537	BL1S1_HUMAN			4	730	+			150					A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	c.215C>A	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431200	0.62844	.	.	ENSG00000135441	ENST00000257899;ENST00000548925;ENST00000547076;ENST00000548556	.	.	.	5.37	5.37	0.77165	.	0.180436	0.49916	D	0.000134	T	0.61438	0.2347	L	0.40543	1.245	0.43054	D	0.994668	D	0.55385	0.971	P	0.52109	0.69	T	0.64462	-0.6402	9	0.62326	D	0.03	-2.7568	16.9981	0.86373	0.0:1.0:0.0:0.0	.	150	P78537	BL1S1_HUMAN	Y	122;150;72;72	.	ENSP00000257899:S122Y	S	+	2	0	BLOC1S1	54399647	1.000000	0.71417	0.990000	0.47175	0.083000	0.17756	7.190000	0.77755	2.683000	0.91414	0.655000	0.94253	TCT		0.577	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		48	186	1	0	9.58827e-17	1	1.05493e-16	48	186					A	56113380	C	A	56113380	3	1	79	1	0	0	0	0	1	0	0	0	1450	913	32	3	379	3	BLOC1S1	12	56113380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18497	56113380	77738515	13403	23720											
CD63	967	broad.mit.edu	37	chr12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgatgatgaccactgGcaacagagagccaggggtag	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000549117.1	-	3	596	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000548898.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	54					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(160-162)Cca>Tca		CD63 molecule							103	103	103					12																	56121030		2203	4300	6503	SO:0001583	missense	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56121030G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.160C>T	12.37:g.56121030G>A	ENSP00000447730:p.Pro54Ser					CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Missense_Mutation_p.P54S	p.P54S	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	596	-			54					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.160C>T	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703758	0.88924	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.35	4.46	0.54185	.	0.054955	0.64402	N	0.000001	D	0.86510	0.5950	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.995	D;P;D	0.97110	1.0;0.893;0.951	D	0.87355	0.2340	10	0.56958	D	0.05	.	12.4812	0.55844	0.0829:0.0:0.9171:0.0	.	31;54;54	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	54;54;54;54;31;54;54;54	ENSP00000393502:P54S;ENSP00000449337:P54S;ENSP00000447730:P54S;ENSP00000257857:P54S;ENSP00000446807:P31S;ENSP00000449281:P54S;ENSP00000446752:P54S;ENSP00000450191:P54S	ENSP00000257857:P54S	P	-	1	0	CD63	54407297	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.977000	0.63792	1.593000	0.50029	0.655000	0.94253	CCA		0.577	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			150	605	0	0	0	1	0	150	605					A	56121030	G	A	56121030	3	1	79	1	0	0	0	0	1	0	0	0	3038	1203	42	2	580	2	CD63	12	56121030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7650	56121030	77730865	13404	23721											
ORMDL2	29095	broad.mit.edu	37	chr12	56212807	56212807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgggggtggcacacagCgaagtaaaccccaacacccg	12	12	0	0	rs139659445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56212807C>T	ENST00000243045.5	+	2	219	c.24C>T	c.(22-24)agC>agT	p.S8S	ORMDL2_ENST00000552672.1_Intron|ORMDL2_ENST00000550836.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.S8S|RP11-762I7.5_ENST00000552719.1_Intron|SARNP_ENST00000444631.2_5'Flank|SARNP_ENST00000552080.1_5'Flank|SARNP_ENST00000336133.3_5'Flank	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	8				S -> N (in Ref. 6; BAD96900). {ECO:0000305}.	ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						TGGCACACAGCGAAGTAAACC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17948	0.0		0.0	False		,,,				2504	0.0					ENST00000243045.5																			0				kidney(1)|lung(3)	4						c.(22-24)agC>agT		ORM1-like 2 (S. cerevisiae)		C		1,4405	2.1+/-5.4	0,1,2202	130	109	116		24	-2.8	1	12	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	ORMDL2	NM_014182.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		8/154	56212807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29095				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr12:56212807C>T	AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"ORM1 (S. cerevisiae)-like 2", "ORM1-like 2 (S. cerevisiae)"			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.24C>T	12.37:g.56212807C>T						RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000550836.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.S8S|ORMDL2_ENST00000552672.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron	p.S8S	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN			2	219	+			8	S -> N (in Ref. 6; BAD96900).				B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	ENST00000243045.5	37	c.24C>T	CCDS8893.1																																																																																				0.527	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		37	196	0	0	0	1	0	37	196					T	56212807	C	T	56212807	2	4	79	1	0	0	0	0	0	0	0	1	11312	767	27	1		1	ORMDL2	12	56212807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91777	56212807	77639088	13405	23722											
DGKA	1606	broad.mit.edu	37	chr12	56333198	56333198	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatctactgtgccttcctaGactctgaaggacgacggaca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	ENST00000331886.5	+	9	1048		c.e9-1		DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						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)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e9-1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						163	159	160					12																	56333198		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333198G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.595-1G>T	12.37:g.56333198G>T						DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site		NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			9	1048	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795930	0.31777	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8868	0.88858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54619465	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.343000	0.79319	2.838000	0.97847	0.591000	0.81541	.		0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	28	737	1	0	2.65835e-16	1	2.91905e-16	28	737					T	56333198	G	T	56333198	5	4	79	1	0	0	0	0	0	0	1	0	4481	956	33	3	624	3	DGKA	12	56333198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120391	56333198	77518697	13406	23723											
SUOX	6821	broad.mit.edu	37	chr12	56398461	56398461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtccagtcggccatcAcagagccccgggatggagag	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56398461A>G	ENST00000394109.3	+	3	2012	c.1288A>G	c.(1288-1290)Aca>Gca	p.T430A	SUOX_ENST00000548274.1_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000266971.3_Missense_Mutation_p.T430A			P51687	SUOX_HUMAN	sulfite oxidase	430	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCGGCCATCACAGAGCCCCG	0.557																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1288-1290)Aca>Gca		sulfite oxidase							106	106	106					12																	56398461		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398461A>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1288A>G	12.37:g.56398461A>G	ENSP00000377668:p.Thr430Ala					SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A	p.T430A			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	2012	+			430			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.1288A>G	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134990	0.56828	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	L	0.42686	1.345	0.58432	D	0.999992	B	0.23249	0.082	B	0.27887	0.084	T	0.71045	-0.4706	10	0.15499	T	0.54	-12.6074	14.053	0.64749	1.0:0.0:0.0:0.0	.	430	P51687	SUOX_HUMAN	A	430	ENSP00000348440:T430A;ENSP00000266971:T430A;ENSP00000377674:T430A;ENSP00000450245:T430A;ENSP00000377668:T430A	ENSP00000266971:T430A	T	+	1	0	SUOX	54684728	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.278000	0.89899	2.221000	0.72209	0.383000	0.25322	ACA		0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		13	306	0	0	0	1	0	13	306					G	56398461	A	G	56398461	3	3	79	1	0	0	0	0	1	0	0	0	15447	159	6	4	1298	4	SUOX	12	56398461	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65263	56398461	77453434	13407	23724											
IKZF4	64375	broad.mit.edu	37	chr12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtcctgcctacgccaaaGaggaccccaagccacaggag	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000262032.5	+	12	1856	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1489-1491)Gag>Tag		IKAROS family zinc finger 4 (Eos)							42	45	44					12																	56428846		1891	4109	6000	SO:0001587	stop_gained	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428846G>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1489G>T	12.37:g.56428846G>T	ENSP00000262032:p.Glu497*					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*	p.E497*			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1856	+			497					Q96JP3	Nonsense_Mutation	SNP	ENST00000262032.5	37	c.1489G>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349796	0.82132	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	.	.	.	X	497;395;497;452	.	ENSP00000262032:E497X	E	+	1	0	IKZF4	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG		0.662	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		74	284	1	0	1.26778e-28	1	1.47706e-28	74	284					T	56428846	G	T	56428846	4	4	79	1	0	0	0	0	0	1	0	0	7647	943	33	3	1519	3	IKZF4	12	56428846	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	56428846	77423049	13408	23725											
ERBB3	2065	broad.mit.edu	37	chr12	56479013	56479013	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacccctcagccagcccaaGactggtacctccttgatgat	7	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56479013G>T	ENST00000267101.3	+	3	861				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.D157Y|ERBB3_ENST00000415288.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3						cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAGCCCAAGACTGGTACCT	0.577																																						ENST00000411731.2																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(469-471)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							75	75	75					12																	56479013		2203	4300	6503	SO:0001627	intron_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56479013G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.421+48G>T	12.37:g.56479013G>T						ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000267101.3_Intron	p.D157Y	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	633	+			0					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.469G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821290	0.32237	.	.	ENSG00000065361	ENST00000411731	T	0.35789	1.29	2.91	1.99	0.26369	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	0.999995	P	0.41041	0.736	B	0.41088	0.347	T	0.08932	-1.0698	7	.	.	.	.	5.1894	0.15201	0.1693:0.0:0.8307:0.0	.	157	P21860-2	.	Y	157	ENSP00000415753:D157Y	.	D	+	1	0	ERBB3	54765280	0.001000	0.12720	0.004000	0.12327	0.026000	0.11368	0.935000	0.28924	0.787000	0.33731	0.561000	0.74099	GAC		0.577	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			17	344	1	0	1.5739e-10	1	1.67034e-10	17	344					T	56479013	G	T	56479013	1	4	79	0	1	0	0	0	0	0	0	0	5226	942	33	3		3	ERBB3	12	56479013	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50167	56479013	77372882	13409	23726											
ERBB3	2065	broad.mit.edu	37	chr12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaggcgatacttggaaCggggtgaggtgagtacttag	16	5	0	3	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	683			R -> W (in dbSNP:rs56387488). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2047-2049)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	145	132	137		2047	4	1	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	683/1343	56489582	1,13005	2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56489582C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2047C>T	12.37:g.56489582C>T	ENSP00000267101:p.Arg683Trp					ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	p.R683W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		17	2487	+			683		R -> W (in dbSNP:rs56387488).			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2047C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804868	0.70682	2.27E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.78595	-1.19;-1.09;-1.18	4.86	3.96	0.45880	.	0.000000	0.56097	D	0.000031	T	0.80116	0.4564	L	0.29908	0.895	0.44579	D	0.997543	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.965	T	0.81385	-0.0957	10	0.87932	D	0	.	10.8559	0.46798	0.4657:0.5343:0.0:0.0	rs56387488	624;683	P21860-4;P21860	.;ERBB3_HUMAN	W	683;40;624	ENSP00000267101:R683W;ENSP00000399178:R40W;ENSP00000408340:R624W	ENSP00000267101:R683W	R	+	1	2	ERBB3	54775849	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	1.258000	0.44101	0.655000	0.94253	CGG		0.443	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			93	474	0	0	0	1	0	93	474					T	56489582	C	T	56489582	3	4	79	1	0	0	0	0	1	0	0	0	5226	527	19	1	2244	1	ERBB3	12	56489582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10569	56489582	77362313	13410	23727											
ERBB3	2065	broad.mit.edu	37	chr12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgattggctgaagtaccaGacctgctagagaagggggag	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2764-2766)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							130	117	121					12																	56492614		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56492614G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2764G>T	12.37:g.56492614G>T	ENSP00000267101:p.Asp922Tyr					ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y	p.D922Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3204	+			922			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2764G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323234	0.81580	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88544	0.6465	L	0.41824	1.3	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.983;0.992	D	0.88489	0.3074	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	863;42;922	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	922;279;863;45;163;42	ENSP00000267101:D922Y;ENSP00000399178:D279Y;ENSP00000408340:D863Y;ENSP00000449129:D163Y;ENSP00000448729:D42Y	ENSP00000267101:D922Y	D	+	1	0	ERBB3	54778881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.941000	0.99782	0.655000	0.94253	GAC		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			84	388	1	0	7.7321e-48	1	9.52824e-48	84	388					T	56492614	G	T	56492614	3	4	79	1	0	0	0	0	1	0	0	0	5226	942	33	3	2985	3	ERBB3	12	56492614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3032	56492614	77359281	13411	23728											
PA2G4	5036	broad.mit.edu	37	chr12	56505030	56505030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggccccatgcggataacCagtggtcccttcgagcctga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	334	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(1000-1002)acC>acA		proliferation-associated 2G4, 38kDa							94	88	90					12																	56505030		2203	4300	6503	SO:0001819	synonymous_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505030C>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1002C>A	12.37:g.56505030C>A						PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.T334T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		11	1421	+			334			Necessary for nucleolar localization.		O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.1002C>A	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		71	328	1	0	1.43987e-31	1	1.69592e-31	71	328					A	56505030	C	A	56505030	2	1	79	1	0	0	0	0	0	0	0	1	11403	581	21	3		3	PA2G4	12	56505030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12416	56505030	77346865	13412	23729											
ZC3H10	84872	broad.mit.edu	37	chr12	56514521	56514521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcaagcgttgccgatatCgccacccagacatgagcgag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	ENST00000257940.2	+	3	451	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	59							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TTGCCGATATCGCCACCCAGA	0.567																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(175-177)Cgc>Tgc		zinc finger CCCH-type containing 10							128	109	115					12																	56514521		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56514521C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.175C>T	12.37:g.56514521C>T	ENSP00000257940:p.Arg59Cys					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.R59C	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	451	+			59						Missense_Mutation	SNP	ENST00000257940.2	37	c.175C>T	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181558	0.57800	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000546903	T;T	0.41400	1.0;1.0	4.82	4.82	0.62117	Zinc finger, CCCH-type (2);	0.147583	0.39985	N	0.001211	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.54706	0.759	T	0.43605	-0.9381	10	0.66056	D	0.02	-5.2356	12.3108	0.54927	0.1695:0.8305:0.0:0.0	.	59	Q96K80	ZC3HA_HUMAN	C	59	ENSP00000450122:R59C;ENSP00000448881:R59C	ENSP00000257940:R59C	R	+	1	0	ZC3H10	54800788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.293000	0.51779	2.676000	0.91093	0.655000	0.94253	CGC		0.567	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		12	492	0	0	0	1	0	12	492					T	56514521	C	T	56514521	3	4	79	1	0	0	0	0	1	0	0	0	17612	884	31	1	177	1	ZC3H10	12	56514521	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9491	56514521	77337374	13413	23730											
ZC3H10	84872	broad.mit.edu	37	chr12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccatggctcctgtggCtgtatctgtggctcctgtgg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	388	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(1162-1164)gCt>gAt		zinc finger CCCH-type containing 10							124	97	106					12																	56515509		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515509C>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1163C>A	12.37:g.56515509C>A	ENSP00000257940:p.Ala388Asp					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.A388D	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1439	+			388			Pro-rich.			Missense_Mutation	SNP	ENST00000257940.2	37	c.1163C>A	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986954	0.53934	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.63	4.75	0.60458	.	0.131035	0.49305	D	0.000153	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	P	0.44627	0.839	B	0.37346	0.247	T	0.44952	-0.9294	9	0.72032	D	0.01	-10.0065	16.0428	0.80695	0.0:0.8651:0.1349:0.0	.	388	Q96K80	ZC3HA_HUMAN	D	388	.	ENSP00000257940:A388D	A	+	2	0	ZC3H10	54801776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.510000	0.67018	1.540000	0.49301	-0.127000	0.14921	GCT		0.592	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		32	192	1	0	9.65021e-13	1	1.03847e-12	32	192					A	56515509	C	A	56515509	3	1	79	1	0	0	0	0	1	0	0	0	17612	797	28	3	1165	3	ZC3H10	12	56515509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	56515509	77336386	13414	23731											
ESYT1	23344	broad.mit.edu	37	chr12	56536096	56536096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggcactggcgtgctgGgctcattatccctgcccctc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56536096G>A	ENST00000394048.5	+	25	2884	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	874	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTGCTGGGCTCATTATC	0.562																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2620-2622)Ggc>Agc		extended synaptotagmin-like protein 1							123	110	114					12																	56536096		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536096G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2620G>A	12.37:g.56536096G>A	ENSP00000377612:p.Gly874Ser					ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron	p.G874S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			25	2884	+			874			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2620G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813855	0.70912	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.94862	-3.54;-3.54;-3.54	4.55	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.84773	2.715	0.80722	D	1	D;P	0.61080	0.989;0.714	P;P	0.57960	0.83;0.669	D	0.97190	0.9857	10	0.87932	D	0	-22.2159	15.2067	0.73183	0.0:0.0:1.0:0.0	.	884;874	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	874;828;884;884	ENSP00000377612:G874S;ENSP00000267113:G884S;ENSP00000445952:G884S	ENSP00000267113:G884S	G	+	1	0	ESYT1	54822363	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.961000	0.70356	2.537000	0.85549	0.561000	0.74099	GGC		0.562	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		30	717	0	0	0	1	0	30	717					A	56536096	G	A	56536096	3	1	79	1	0	0	0	0	1	0	0	0	5282	1232	43	2	2748	2	ESYT1	12	56536096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20587	56536096	77315799	13415	23732											
SMARCC2	6601	broad.mit.edu	37	chr12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccctgaacagctgccAcaatggcagggctttgggct	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000267064.4	-	27	3607	c.3521T>C	c.(3520-3522)gTg>gCg	p.V1174A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1112A|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1174	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3334-3336)gTg>gCg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							38	41	40					12																	56558134		2195	4280	6475	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558134A>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3521T>C	12.37:g.56558134A>G	ENSP00000267064:p.Val1174Ala					SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1174A	p.V1112A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3440	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3335T>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294410	0.60086	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.56941	1.2;0.43;0.44	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.55242	0.1908	N	0.14661	0.345	0.32803	D	0.500392	P;P;P	0.52577	0.954;0.924;0.924	D;P;P	0.65140	0.932;0.857;0.857	T	0.68217	-0.5467	10	0.87932	D	0	-14.2644	14.4903	0.67647	1.0:0.0:0.0:0.0	.	1112;1116;1174	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	A	1112;1205;1174	ENSP00000377591:V1112A;ENSP00000449396:V1205A;ENSP00000267064:V1174A	ENSP00000267064:V1174A	V	-	2	0	SMARCC2	54844401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	2.132000	0.65825	0.460000	0.39030	GTG		0.657	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			109	382	0	0	0	1	0	109	382					G	56558134	A	G	56558134	3	3	79	1	0	0	0	0	1	0	0	0	14826	159	6	4	131	4	SMARCC2	12	56558134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22038	56558134	77293761	13416	23733											
SMARCC2	6601	broad.mit.edu	37	chr12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtagagggttcgccatgGacacaggcaggttaggtggg	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000267064.4	-	27	3499	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	SMARCC2_ENST00000550164.1_Missense_Mutation_p.S1169F|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1138	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3505-3507)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							76	70	72					12																	56558242		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558242G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3413C>T	12.37:g.56558242G>A	ENSP00000267064:p.Ser1138Phe					SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S1138F	p.S1169F			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3520	-			1138			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3506C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197876	0.58126	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000278	T	0.47820	0.1466	N	0.08118	0	0.36275	D	0.85539	D	0.55605	0.972	D	0.69142	0.962	T	0.55127	-0.8189	9	.	.	.	-11.0486	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1138	Q8TAQ2	SMRC2_HUMAN	F	1169;1138	ENSP00000449396:S1169F;ENSP00000267064:S1138F	.	S	-	2	0	SMARCC2	54844509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.639000	0.89480	0.563000	0.77884	TCC		0.637	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			127	505	0	0	0	1	0	127	505					A	56558242	G	A	56558242	3	1	79	1	0	0	0	0	1	0	0	0	14826	1174	41	2	239	2	SMARCC2	12	56558242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	56558242	77293653	13417	23734											
SMARCC2	6601	broad.mit.edu	37	chr12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttttcgaacatgggcCtccaccaaggccgtgggtac	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000267064.4	-	21	2225	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	713					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2230-2232)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							136	125	129					12																	56565170		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565170C>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2139G>T	12.37:g.56565170C>A	ENSP00000267064:p.Glu713Asp					SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E713D	p.E744D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		22	2337	-			713					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2232G>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855436	0.51376	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48522	1.01;0.81;0.84;0.83	5.3	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.31294	0.92	0.45129	D	0.99814	D;D;D;D;D	0.61697	0.984;0.99;0.984;0.984;0.99	D;D;D;D;D	0.73380	0.956;0.98;0.956;0.956;0.98	T	0.40831	-0.9542	10	0.12766	T	0.61	-20.1129	6.9306	0.24439	0.0:0.6437:0.0:0.3563	.	633;744;748;713;744	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	744;744;744;713	ENSP00000377591:E744D;ENSP00000449396:E744D;ENSP00000302919:E744D;ENSP00000267064:E713D	ENSP00000267064:E713D	E	-	3	2	SMARCC2	54851437	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	0.250000	0.18235	0.729000	0.32403	0.655000	0.94253	GAG		0.552	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			78	304	1	0	1.30681e-28	1	1.52204e-28	78	304					A	56565170	C	A	56565170	3	1	79	1	0	0	0	0	1	0	0	0	14826	680	24	3	1537	3	SMARCC2	12	56565170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6928	56565170	77286725	13418	23735											
OBFC2B	79035	broad.mit.edu	37	chr12	56620171	56620171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacccttcagcttcccAgcctaccactggaccctctg	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56620171A>G	ENST00000380198.2	+	5	902	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	NABP2_ENST00000267023.4_Missense_Mutation_p.Q135R|NABP2_ENST00000341463.5_Missense_Mutation_p.Q135R			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	135					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCAGCTTCCCAGCCTACCACT	0.527																																						ENST00000380198.2																			0											c.(403-405)cAg>cGg		nucleic acid binding protein 2							197	157	171					12																	56620171		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56620171A>G	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.404A>G	12.37:g.56620171A>G	ENSP00000369545:p.Gln135Arg					NABP2_ENST00000267023.4_Missense_Mutation_p.Q135R|NABP2_ENST00000341463.5_Missense_Mutation_p.Q135R	p.Q135R							5	902	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.404A>G	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	7.689	0.690625	0.15039	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.23348	1.91;1.91;1.91	4.29	4.29	0.51040	.	0.000000	0.47455	D	0.000231	T	0.20292	0.0488	L	0.44542	1.39	0.28850	N	0.896116	B;B;B	0.19583	0.035;0.037;0.007	B;B;B	0.17979	0.02;0.009;0.008	T	0.10520	-1.0626	10	0.22109	T	0.4	-19.7457	10.1776	0.42948	1.0:0.0:0.0:0.0	.	135;135;135	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	R	135	ENSP00000267023:Q135R;ENSP00000369545:Q135R;ENSP00000368862:Q135R	ENSP00000267023:Q135R	Q	+	2	0	OBFC2B	54906438	0.823000	0.29233	0.907000	0.35723	0.167000	0.22549	1.810000	0.38932	1.736000	0.51660	0.370000	0.22315	CAG		0.527	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		87	501	0	0	0	1	0	87	501					G	56620171	A	G	56620171	3	3	79	1	0	0	0	0	1	0	0	0	10851	188	7	4	422	4	OBFC2B	12	56620171	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55001	56620171	77231724	13419	23736											
ANKRD52	283373	broad.mit.edu	37	chr12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcatgggcgagtatcCgctgtaatccaccccggcat	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	791										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2371-2373)Gga>Aga		ankyrin repeat domain 52							23	26	25					12																	56639194		2061	4198	6259	SO:0001583	missense	283373						protein binding	g.chr12:56639194C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2371G>A	12.37:g.56639194C>T	ENSP00000267116:p.Gly791Arg						p.G791R	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			21	2492	-			791					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2371G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230425	0.79688	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27890	1.64	4.07	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.330506	0.28182	N	0.016299	T	0.54078	0.1836	M	0.72118	2.19	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.60449	-0.7261	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	791	Q8NB46	ANR52_HUMAN	R	791	ENSP00000267116:G791R	ENSP00000267116:G791R	G	-	1	0	ANKRD52	54925461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.022000	0.70839	2.291000	0.77112	0.491000	0.48974	GGA		0.617	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		32	112	0	0	0	1	0	32	112					T	56639194	C	T	56639194	3	4	79	1	0	0	0	0	1	0	0	0	678	661	23	1	891	1	ANKRD52	12	56639194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19023	56639194	77212701	13420	23737											
ANKRD52	283373	broad.mit.edu	37	chr12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtccacttgcgcttgcGctccttgatgagggcagagg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	649										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1945-1947)Cgc>Tgc		ankyrin repeat domain 52							28	33	31					12																	56641840		2063	4196	6259	SO:0001583	missense	283373						protein binding	g.chr12:56641840G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1945C>T	12.37:g.56641840G>A	ENSP00000267116:p.Arg649Cys						p.R649C	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	2066	-			649					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1945C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147421	0.57151	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16196	2.36	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.175676	0.47455	D	0.000236	T	0.11793	0.0287	N	0.17474	0.49	0.51012	D	0.999909	D	0.54397	0.966	B	0.42882	0.401	T	0.03148	-1.1067	10	0.52906	T	0.07	.	12.0765	0.53647	0.0:0.0:0.8272:0.1728	.	649	Q8NB46	ANR52_HUMAN	C	649	ENSP00000267116:R649C	ENSP00000267116:R649C	R	-	1	0	ANKRD52	54928107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.148000	0.42235	2.474000	0.83562	0.467000	0.42956	CGC		0.642	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		35	140	0	0	0	1	0	35	140					A	56641840	G	A	56641840	3	1	79	1	0	0	0	0	1	0	0	0	678	1087	38	1	1329	1	ANKRD52	12	56641840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2646	56641840	77210055	13421	23738											
ANKRD52	283373	broad.mit.edu	37	chr12	56647086	56647086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccgggcggtatctgcGccattggtcatgagggtgct	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	362										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1084-1086)ggC>ggT		ankyrin repeat domain 52							69	72	71					12																	56647086		2105	4227	6332	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56647086G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1086C>T	12.37:g.56647086G>A							p.G362G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			10	1207	-			362					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1086C>T	CCDS44920.1																																																																																				0.572	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		64	292	0	0	0	1	0	64	292					A	56647086	G	A	56647086	2	1	79	1	0	0	0	0	0	0	0	1	678	1074	38	1		1	ANKRD52	12	56647086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5246	56647086	77204809	13422	23739											
ANKRD52	283373	broad.mit.edu	37	chr12	56647941	56647941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatgcagtggcgtgaaGcccttgtcattcggctggtt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	272										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(814-816)ggC>ggT		ankyrin repeat domain 52							116	134	128					12																	56647941		2090	4238	6328	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56647941G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.816C>T	12.37:g.56647941G>A							p.G272G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			8	937	-			272					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.816C>T	CCDS44920.1																																																																																				0.557	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		117	508	0	0	0	1	0	117	508					A	56647941	G	A	56647941	2	1	79	1	0	0	0	0	0	0	0	1	678	958	34	2		2	ANKRD52	12	56647941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	56647941	77203954	13423	23740											
ANKRD52	283373	broad.mit.edu	37	chr12	56651145	56651145	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggagttcgcctctcttggtCctgggaaggcaaaaaagagc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	38										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCTCTTGGTCCTGGGAAGGC	0.587																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.e3-1		ankyrin repeat domain 52							54	55	55					12																	56651145		2023	4173	6196	SO:0001630	splice_region_variant	283373						protein binding	g.chr12:56651145C>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.112-1G>T	12.37:g.56651145C>A							p.D38_splice	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			3	233	-			38					A6NE79|B1Q2K2	Splice_Site	SNP	ENST00000267116.7	37	c.111_splice	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399545	0.83120	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.19532	2.14	4.14	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59910	-0.7365	10	0.66056	D	0.02	.	15.709	0.77609	0.0:1.0:0.0:0.0	.	38	Q8NB46	ANR52_HUMAN	Y	38	ENSP00000267116:D38Y	ENSP00000267116:D38Y	D	-	1	0	ANKRD52	54937412	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.507000	0.81676	2.304000	0.77564	0.591000	0.81541	GAC		0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	Missense_Mutation	8	42	1	0	7.48243e-07	1	7.73841e-07	8	42					A	56651145	C	A	56651145	5	1	79	1	0	0	0	0	0	0	1	0	678	869	30	3	3222	3	ANKRD52	12	56651145	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3204	56651145	77200750	13424	23741											
PAN2	10330	broad.mit.edu	37	chr12	56712063	56712063	+	5'Flank	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggctcaggcaccttccagtCcatctttctgcccttctcat	6	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56712063C>A	ENST00000273308.4	-	0	0				PAN2_ENST00000425394.2_Missense_Mutation_p.D1178Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000549090.1_5'UTR|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						ACCTTCCAGTCCATCTTTCTG	0.488																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3532-3534)Gac>Tac		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							168	158	162					12																	56712063		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712063C>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712063C>A	Exception_encountered					PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000549090.1_5'UTR	p.D1178Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			25	3908	-			1178					B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3532G>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477596	0.84640	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.62723	1.935	0.54753	D	0.999984	D;D;D	0.64830	0.994;0.994;0.99	P;P;P	0.60789	0.879;0.879;0.76	T	0.44605	-0.9317	10	0.59425	D	0.04	-11.281	14.8958	0.70644	0.1447:0.8553:0.0:0.0	.	1177;1174;1178	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	1178;1174;1177;1178	ENSP00000401721:D1178Y;ENSP00000388231:D1174Y;ENSP00000257931:D1177Y;ENSP00000449861:D1178Y	ENSP00000257931:D1177Y	D	-	1	0	PAN2	54998330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.581000	0.82535	1.421000	0.47157	0.563000	0.77884	GAC		0.488	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		103	571	1	0	9.53958e-58	1	1.19509e-57	103	571					A	56712063	C	A	56712063	1	1	79	0	1	0	0	0	0	0	0	0	11456	855	30	3		3	PAN2	12	56712063	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60918	56712063	77139832	13425	23742											
PAN2	9924	broad.mit.edu	37	chr12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagtagcgctccaaggCtgggccaaaaaatgaagtgg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CGCTCCAAGGCTGGGCCAAAA	0.512																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(310-312)Gcc>Tcc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							55	53	53					12																	56722398		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722398C>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.310G>T	12.37:g.56722398C>A	ENSP00000401721:p.Ala104Ser					PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S	p.A104S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			3	686	-			104						Missense_Mutation	SNP	ENST00000425394.2	37	c.310G>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569189	0.28003	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.28	0.28536	WD40 repeat-like-containing domain (1);	0.360372	0.31612	N	0.007360	T	0.16128	0.0388	N	0.04090	-0.28	0.33195	D	0.551396	B;B;B	0.16802	0.019;0.019;0.011	B;B;B	0.15870	0.014;0.014;0.006	T	0.35649	-0.9780	10	0.02654	T	1	-4.814	9.5316	0.39198	0.0:0.766:0.0:0.234	.	104;104;104	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	104	ENSP00000401721:A104S;ENSP00000388231:A104S;ENSP00000257931:A104S;ENSP00000449861:A104S	ENSP00000257931:A104S	A	-	1	0	PAN2	55008665	0.789000	0.28775	0.937000	0.37676	0.963000	0.63663	1.324000	0.33712	0.419000	0.25927	0.650000	0.86243	GCC		0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		45	198	1	0	1.03325e-14	1	1.12462e-14	45	198					A	56722398	C	A	56722398	3	1	79	1	0	0	0	0	1	0	0	0	11456	797	28	3	3394	3	PAN2	12	56722398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10335	56722398	77129497	13426	23743											
STAT2	6773	broad.mit.edu	37	chr12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcatttcccactgcGccatttgggctctgcgtcag	10	14	3	0	rs200501174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	2					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(4-6)gCg>gTg		signal transducer and activator of transcription 2, 113kDa							84	74	78					12																	56750351		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56750351G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.5C>T	12.37:g.56750351G>A	ENSP00000315768:p.Ala2Val					STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V	p.A2V			P52630	STAT2_HUMAN			2	28	-			2					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.5C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460637	0.84317	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.57752	0.38;0.38;0.38	4.85	4.85	0.62838	STAT transcription factor, protein interaction (4);	0.308797	0.34725	N	0.003727	T	0.73273	0.3566	M	0.80982	2.52	0.43714	D	0.996183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.968	T	0.77029	-0.2739	10	0.87932	D	0	-15.0659	15.3582	0.74443	0.0:0.0:1.0:0.0	.	2;2;2	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	2	ENSP00000315768:A2V;ENSP00000450751:A2V;ENSP00000387354:A2V	ENSP00000315768:A2V	A	-	2	0	STAT2	55036618	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	6.130000	0.71663	2.700000	0.92200	0.563000	0.77884	GCG		0.458	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		55	252	0	0	0	1	0	55	252					A	56750351	G	A	56750351	3	1	79	1	0	0	0	0	1	0	0	0	15317	1087	38	1	2642	1	STAT2	12	56750351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27953	56750351	77101544	13427	23744											
APOF	319	broad.mit.edu	37	chr12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccttaatgcaggtttaaGtgcagcactgatcgctagac	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527																																						ENST00000398189.3																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(733-735)Ctt>Ttt		apolipoprotein F							95	94	95					12																	56755257		1965	4162	6127	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755257G>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.733C>T	12.37:g.56755257G>A	ENSP00000381250:p.Leu245Phe					APOF_ENST00000541105.1_Missense_Mutation_p.L227F	p.L245F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN			2	810	-			245					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.733C>T	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302675	0.81136	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.51325	0.71;0.71	5.34	5.34	0.76211	.	0.000000	0.34088	N	0.004277	T	0.66703	0.2816	M	0.62723	1.935	0.42344	D	0.992346	D	0.89917	1.0	D	0.87578	0.998	T	0.68938	-0.5277	10	0.72032	D	0.01	-8.6796	16.355	0.83232	0.0:0.0:1.0:0.0	.	245	Q13790	APOF_HUMAN	F	245;227	ENSP00000381250:L245F;ENSP00000440997:L227F	ENSP00000381250:L245F	L	-	1	0	APOF	55041524	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.441000	0.52893	2.677000	0.91161	0.655000	0.94253	CTT		0.527	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			13	327	0	0	0	1	0	13	327					A	56755257	G	A	56755257	3	1	79	1	0	0	0	0	1	0	0	0	803	1029	36	2	251	2	APOF	12	56755257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	56755257	77096638	13428	23745											
TIMELESS	8914	broad.mit.edu	37	chr12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccctcagggcttgtgctCggtgctctttacagtgctcc	13	13	2	0	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000553532.1	-	27	3539	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1129Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3385-3387)cGa>cAa		timeless circadian clock		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162	171	168		3389	-5.1	0	12	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1130/1209	56811983	2,13004	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811983C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3389G>A	12.37:g.56811983C>T	ENSP00000450607:p.Arg1130Gln					TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1130Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q	p.R1129Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			27	3540	-			1130						Missense_Mutation	SNP	ENST00000553532.1	37	c.3386G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238406	0.39598	2.27E-4	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11277	2.79;2.79;2.79	5.37	-5.08	0.02929	Timeless C-terminal (1);	0.863170	0.10042	N	0.723288	T	0.03651	0.0104	N	0.04043	-0.29	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.47699	-0.9097	10	0.13108	T	0.6	-0.0036	8.9244	0.35632	0.0:0.3483:0.1039:0.5478	.	1130	Q9UNS1	TIM_HUMAN	Q	1129;1130;627	ENSP00000229201:R1129Q;ENSP00000450607:R1130Q;ENSP00000450848:R627Q	ENSP00000229201:R1130Q	R	-	2	0	TIMELESS	55098250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.647000	0.05444	-0.126000	0.14955	CGA		0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		208	1008	0	0	0	1	0	208	1008					T	56811983	C	T	56811983	3	4	79	1	0	0	0	0	1	0	0	0	15956	884	31	1	249	1	TIMELESS	12	56811983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56726	56811983	77039912	13429	23746											
TIMELESS	8914	broad.mit.edu	37	chr12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacaaggtttcactgaggaCtccaaaagccttctcactgg	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000553532.1	-	5	544	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000229201.4_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(394-396)Gtc>Ttc		timeless circadian clock							84	79	80					12																	56827200		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827200C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.394G>T	12.37:g.56827200C>A	ENSP00000450607:p.Val132Phe					TIMELESS_ENST00000553532.1_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F	p.V132F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			5	548	-			132						Missense_Mutation	SNP	ENST00000553532.1	37	c.394G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.50001	0.76;0.76;0.76	5.42	4.53	0.55603	Timeless protein (1);	0.122383	0.56097	D	0.000036	T	0.69278	0.3093	M	0.83223	2.63	0.46701	D	0.999161	D;D	0.76494	0.999;0.999	D;D	0.71414	0.971;0.973	T	0.74996	-0.3473	10	0.87932	D	0	-19.0421	13.3854	0.60793	0.0:0.9229:0.0:0.0771	.	132;132	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	F	132	ENSP00000229201:V132F;ENSP00000450607:V132F;ENSP00000450848:V132F	ENSP00000229201:V132F	V	-	1	0	TIMELESS	55113467	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.872000	0.56085	1.439000	0.47511	0.650000	0.86243	GTC		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		59	253	1	0	1.27334e-21	1	1.43616e-21	59	253					A	56827200	C	A	56827200	3	1	79	1	0	0	0	0	1	0	0	0	15956	565	20	3	3332	3	TIMELESS	12	56827200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15217	56827200	77024695	13430	23747											
MIP	4284	broad.mit.edu	37	chr12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcaggggtccaggagcCcagcgcagtgaggaccccag	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	34					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582																																						ENST00000257979.4																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						c.(100-102)tgG>tgA		major intrinsic protein of lens fiber							89	87	88					12																	56848296		2203	4300	6503	SO:0001587	stop_gained	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848296C>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.102G>A	12.37:g.56848296C>T	ENSP00000257979:p.Trp34*					MIP_ENST00000555551.1_Intron	p.W34*	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN			1	130	-			34					Q17R41	Nonsense_Mutation	SNP	ENST00000257979.4	37	c.102G>A	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430354	0.96150	.	.	ENSG00000135517	ENST00000257979	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2643	18.1394	0.89634	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000257979:W34X	W	-	3	0	MIP	55134563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.657000	0.90304	0.655000	0.94253	TGG		0.582	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		73	391	0	0	0	1	0	73	391					T	56848296	C	T	56848296	4	4	79	1	0	0	0	0	0	1	0	0	9632	624	22	2	705	2	MIP	12	56848296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21096	56848296	77003599	13431	23748											
GLS2	27165	broad.mit.edu	37	chr12	56866494	56866494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaagagctgagacatcGccactataggcagcaaataa	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	497					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1489-1491)ggC>ggT		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						178	147	158					12																	56866494		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56866494G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1491C>T	12.37:g.56866494G>A							p.G497G	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			15	1769	-			497					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1491C>T	CCDS8921.1																																																																																				0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		95	357	0	0	0	1	0	95	357					A	56866494	G	A	56866494	2	1	79	1	0	0	0	0	0	0	0	1	6493	1074	38	1		1	GLS2	12	56866494	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18198	56866494	76985401	13432	23749											
BAZ2A	11176	broad.mit.edu	37	chr12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccgacctcgaccccGtttcaccttggggacttcct	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000551812.1	-	10	2204	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	671	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCGACCCCGTTTCACCTTG	0.522																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1915-1917)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 2A							78	74	75					12																	57003607		1912	4128	6040	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003607G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2011C>T	12.37:g.57003607G>A	ENSP00000446880:p.Arg671Trp					BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R671W	p.R639W			Q9UIF9	BAZ2A_HUMAN			11	2114	-			671					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1915C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045845	0.75846	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.02	4.1	0.47936	AT hook, DNA-binding motif (1);	0.122860	0.53938	D	0.000052	T	0.32315	0.0825	L	0.48642	1.525	0.46927	D	0.99925	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.04481	-1.0948	10	0.87932	D	0	.	11.8124	0.52189	0.0:0.0:0.6821:0.3179	.	669;671	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	W	641;639;671;669	ENSP00000368754:R641W;ENSP00000179765:R639W;ENSP00000446880:R671W;ENSP00000447941:R669W	ENSP00000179765:R639W	R	-	1	2	BAZ2A	55289874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	1.423000	0.47198	0.655000	0.94253	CGG		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	149	0	0	0	1	0	7	149					A	57003607	G	A	57003607	3	1	79	1	0	0	0	0	1	0	0	0	1332	1144	40	1	3786	1	BAZ2A	12	57003607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137113	57003607	76848288	13433	23750											
BAZ2A	11176	broad.mit.edu	37	chr12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacaactgtagaagctgCgggacaaacttctggagaga	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000551812.1	-	6	1559	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	456					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562																																						ENST00000179765.5																			3	Substitution - Missense(3)	p.A456T(2)|p.A492T(1)	endometrium(3)	breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1270-1272)Gca>Aca		bromodomain adjacent to zinc finger domain, 2A							67	72	70					12																	57005806		1919	4149	6068	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005806C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1366G>A	12.37:g.57005806C>T	ENSP00000446880:p.Ala456Thr					BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000551812.1_Missense_Mutation_p.A456T	p.A424T			Q9UIF9	BAZ2A_HUMAN			7	1469	-			456					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1270G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635326	0.14322	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.85	2.97	0.34412	.	0.421480	0.19413	N	0.114887	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	P;B	0.34837	0.472;0.185	B;B	0.21151	0.033;0.019	T	0.11275	-1.0594	10	0.15066	T	0.55	.	5.0732	0.14617	0.2041:0.6891:0.0:0.1068	.	454;456	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	T	426;424;456;454	ENSP00000368754:A426T;ENSP00000179765:A424T;ENSP00000446880:A456T;ENSP00000447941:A454T	ENSP00000179765:A424T	A	-	1	0	BAZ2A	55292073	0.997000	0.39634	0.980000	0.43619	0.018000	0.09664	1.540000	0.36115	1.239000	0.43787	-0.194000	0.12790	GCA		0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		19	102	0	0	0	1	0	19	102					T	57005806	C	T	57005806	3	4	79	1	0	0	0	0	1	0	0	0	1332	768	27	1	4447	1	BAZ2A	12	57005806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2199	57005806	76846089	13434	23751											
ATP5B	506	broad.mit.edu	37	chr12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtaccagcttccccataTgacctgtgaagacctcagca	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	BAZ2A_ENST00000179765.5_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|BAZ2A_ENST00000551812.1_5'Flank|ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	477					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1429-1431)cAt>cGt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							166	157	160					12																	57032949		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032949T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1430A>G	12.37:g.57032949T>C	ENSP00000262030:p.His477Arg					ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	p.H477R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			9	1480	-			477					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1430A>G	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310785	0.60414	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76060	-0.99;-0.99;-0.99	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55995	-0.8052	10	0.24483	T	0.36	-13.3117	15.1371	0.72576	0.0:0.0:0.0:1.0	.	477	P06576	ATPB_HUMAN	R	477;466;180	ENSP00000262030:H477R;ENSP00000450297:H466R;ENSP00000450233:H180R	ENSP00000262030:H477R	H	-	2	0	ATP5B	55319216	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.872000	0.87187	2.221000	0.72209	0.529000	0.55759	CAT		0.468	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		130	581	0	0	0	1	0	130	581					C	57032949	T	C	57032949	3	2	79	1	0	0	0	0	1	0	0	0	1149	1464	51	4	167	4	ATP5B	12	57032949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27143	57032949	76818946	13435	23752											
NACA	4666	broad.mit.edu	37	chr12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggagggagcaagaggcagaGagactggtggggagggtgct	23	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000454682.1	-	3	5677	c.5396C>A	c.(5395-5397)tCt>tAt	p.S1799Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1799	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGAGGCAGAGAGACTGGTGG	0.557			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5395-5397)tCt>tAt		nascent polypeptide-associated complex alpha subunit							43	41	42					12																	57109918		1568	3581	5149	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109918G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5396C>A	12.37:g.57109918G>T	ENSP00000403817:p.Ser1799Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y	p.S1799Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5677	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5396C>A		.	.	.	.	.	.	.	.	.	.	G	11.24	1.580373	0.28180	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.59906	0.23;0.68	3.77	3.77	0.43336	.	.	.	.	.	T	0.54447	0.1859	N	0.08118	0	0.18873	N	0.999983	D;D	0.65815	0.995;0.994	P;P	0.62184	0.887;0.899	T	0.51764	-0.8664	9	0.87932	D	0	.	12.5832	0.56401	0.0:0.0:1.0:0.0	.	1799;646	E9PAV3;F8VU71	.;.	Y	1799;646	ENSP00000403817:S1799Y;ENSP00000448035:S646Y	ENSP00000403817:S1799Y	S	-	2	0	NACA	55396185	0.709000	0.27886	0.918000	0.36340	0.646000	0.38490	1.484000	0.35508	1.928000	0.55862	0.484000	0.47621	TCT		0.557	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	137	1	0	1.5842e-08	1	1.65642e-08	13	137					T	57109918	G	T	57109918	3	4	79	1	0	0	0	0	1	0	0	0	10174	942	33	3	868	3	NACA	12	57109918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76969	57109918	76741977	13436	23753											
NACA	4666	broad.mit.edu	37	chr12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttagagagaagagtcgCtgttggggcaatggggtccc	15	7	0	3	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000454682.1	-	3	4872	c.4591G>T	c.(4591-4593)Gcg>Tcg	p.A1531S	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1531	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGAGTCGCTGTTGGGGCA	0.582			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4591-4593)Gcg>Tcg		nascent polypeptide-associated complex alpha subunit							41	46	44					12																	57110723		1541	3532	5073	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110723C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4591G>T	12.37:g.57110723C>A	ENSP00000403817:p.Ala1531Ser					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	p.A1531S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4872	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.4591G>T		.	.	.	.	.	.	.	.	.	.	C	4.474	0.087945	0.08583	.	.	ENSG00000196531	ENST00000454682	T	0.47869	0.83	2.83	1.55	0.23275	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.15321	-1.0441	7	.	.	.	.	3.2622	0.06853	0.2245:0.5707:0.0:0.2048	.	1531	E9PAV3	.	S	1531	ENSP00000403817:A1531S	.	A	-	1	0	NACA	55396990	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.017000	0.03630	0.058000	0.16222	0.298000	0.19748	GCG		0.582	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		84	309	1	0	1.13027e-35	1	1.35034e-35	84	309					A	57110723	C	A	57110723	3	1	79	1	0	0	0	0	1	0	0	0	10174	797	28	3	1673	3	NACA	12	57110723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	805	57110723	76741172	13437	23754											
NACA	4666	broad.mit.edu	37	chr12	57111655	57111655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggagttgcagctgggGttgtgggggcccctttgggg	22	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57111655G>A	ENST00000454682.1	-	3	3940	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1220	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCAGCTGGGGTTGTGGGGGC	0.647			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3658-3660)aCc>aTc		nascent polypeptide-associated complex alpha subunit							61	75	71					12																	57111655		1095	2641	3736	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111655G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3659C>T	12.37:g.57111655G>A	ENSP00000403817:p.Thr1220Ile					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	p.T1220I	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3940	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3659C>T		.	.	.	.	.	.	.	.	.	.	g	5.864	0.343665	0.11126	.	.	ENSG00000196531	ENST00000454682	T	0.44482	0.92	3.18	0.925	0.19424	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	B	0.24618	0.107	B	0.25884	0.064	T	0.23583	-1.0184	7	.	.	.	.	7.972	0.30132	0.0:0.0:0.5635:0.4365	.	1220	E9PAV3	.	I	1220	ENSP00000403817:T1220I	.	T	-	2	0	NACA	55397922	0.009000	0.17119	0.000000	0.03702	0.181000	0.23173	1.415000	0.34748	0.273000	0.22049	0.186000	0.17326	ACC		0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		132	549	0	0	0	1	0	132	549					A	57111655	G	A	57111655	3	1	79	1	0	0	0	0	1	0	0	0	10174	1261	44	2	2605	2	NACA	12	57111655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	57111655	76740240	13438	23755											
NACA	4666	broad.mit.edu	37	chr12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttggaaagaaggggAatttttaggggctgcctgga	15	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000454682.1	-	3	1989	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	570	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGAAGGGGAATTTTTAGGG	0.502			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1708-1710)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							66	66	66					12																	57113606		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113606A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1708T>C	12.37:g.57113606A>G	ENSP00000403817:p.Ser570Pro					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P	p.S570P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1989	-			41						Missense_Mutation	SNP	ENST00000454682.1	37	c.1708T>C		.	.	.	.	.	.	.	.	.	.	A	6.909	0.537275	0.13188	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60920	0.15;0.76	3.55	-0.573	0.11742	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.002;0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	3.5169	0.07728	0.5152:0.2055:0.2793:0.0	.	570;570	E9PAV3;F8VU71	.;.	P	570	ENSP00000403817:S570P;ENSP00000448035:S570P	ENSP00000403817:S570P	S	-	1	0	NACA	55399873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.020000	0.13466	-0.006000	0.14370	0.369000	0.22263	TCC		0.502	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		48	162	0	0	0	1	0	48	162					G	57113606	A	G	57113606	3	3	79	1	0	0	0	0	1	0	0	0	10174	246	9	4	4556	4	NACA	12	57113606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	57113606	76738289	13439	23756											
NACA	4666	broad.mit.edu	37	chr12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcaagatgagagcccagaGaaatgggaaaatctgggggg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	304	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(910-912)tCt>tAt		nascent polypeptide-associated complex alpha subunit							57	55	55					12																	57114403		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114403G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.911C>A	12.37:g.57114403G>T	ENSP00000403817:p.Ser304Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y	p.S304Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1192	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		46	219	1	0	2.40228e-13	1	2.59309e-13	46	219					T	57114403	G	T	57114403	3	4	79	1	0	0	0	0	1	0	0	0	10174	942	33	3	5353	3	NACA	12	57114403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	797	57114403	76737492	13440	23757											
NACA	4666	broad.mit.edu	37	chr12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcactgttgtggggcaggaGagcaaggaggggggagggta	23	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000454682.1	-	3	430	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	50	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGCAGGAGAGCAAGGAGG	0.562			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(148-150)tCt>tAt		nascent polypeptide-associated complex alpha subunit							32	31	31					12																	57115165		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57115165G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.149C>A	12.37:g.57115165G>T	ENSP00000403817:p.Ser50Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y	p.S50Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	430	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.149C>A		.	.	.	.	.	.	.	.	.	.	G	7.547	0.661910	0.14645	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33216	1.42;1.42	3.46	3.46	0.39613	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	T	0.18147	-1.0346	9	0.87932	D	0	.	10.6916	0.45875	0.0:0.0:1.0:0.0	.	50;50	E9PAV3;F8VU71	.;.	Y	50	ENSP00000403817:S50Y;ENSP00000448035:S50Y	ENSP00000403817:S50Y	S	-	2	0	NACA	55401432	0.438000	0.25602	0.048000	0.18961	0.100000	0.18952	3.563000	0.53784	1.959000	0.56917	0.456000	0.33151	TCT		0.562	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		12	156	1	0	0.00010058	1	0.000102273	12	156					T	57115165	G	T	57115165	3	4	79	1	0	0	0	0	1	0	0	0	10174	942	33	3	6115	3	NACA	12	57115165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	762	57115165	76736730	13441	23758											
HSD17B6	8630	broad.mit.edu	37	chr12	57167744	57167744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtatgtctttatcacgggCtgtgactcgggctttgggaa	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	36					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607																																						ENST00000554643.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(106-108)ggC>ggT		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						59	59	59					12																	57167744		2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167744C>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.108C>T	12.37:g.57167744C>T						HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G	p.G36G			O14756	H17B6_HUMAN			3	457	+			36					O43275	Silent	SNP	ENST00000554643.1	37	c.108C>T	CCDS8925.1																																																																																				0.607	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		14	372	0	0	0	1	0	14	372					T	57167744	C	T	57167744	2	4	79	1	0	0	0	0	0	0	0	1	7417	784	28	2		2	HSD17B6	12	57167744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52579	57167744	76684151	13442	23759											
RDH16	8608	broad.mit.edu	37	chr12	57345960	57345960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcaatcagcgcatgCtccatgcagttggtcaccaa	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(805-807)gaG>gaA		retinol dehydrogenase 16 (all-trans)							95	106	102					12																	57345960		2145	4259	6404	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57345960C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.807G>A	12.37:g.57345960C>T						RDH16_ENST00000360752.4_5'UTR	p.E269E	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			4	1663	-			269					Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.807G>A	CCDS41797.1																																																																																				0.512	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		51	223	0	0	0	1	0	51	223					T	57345960	C	T	57345960	2	4	79	1	0	0	0	0	0	0	0	1	13244	796	28	2		2	RDH16	12	57345960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178216	57345960	76505935	13443	23760											
RDH16	8608	broad.mit.edu	37	chr12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccagcacccgcaagcctCgtgcatccagctgtctggcc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	52					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(154-156)cGa>cAa		retinol dehydrogenase 16 (all-trans)							61	66	65					12																	57351092		2203	4300	6503	SO:0001583	missense	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57351092C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.155G>A	12.37:g.57351092C>T	ENSP00000381206:p.Arg52Gln					RDH16_ENST00000360752.4_5'UTR	p.R52Q	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			1	1011	-			52					Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	c.155G>A	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488577	0.12641	.	.	ENSG00000139547	ENST00000398138	D	0.87887	-2.31	4.72	2.83	0.33086	NAD(P)-binding domain (1);	0.000000	0.53938	D	0.000055	T	0.68550	0.3013	N	0.05177	-0.1	0.09310	N	0.999997	B	0.31435	0.323	B	0.28139	0.086	T	0.59526	-0.7438	10	0.39692	T	0.17	.	5.2471	0.15502	0.1676:0.6543:0.0:0.1781	.	52	O75452	RDH16_HUMAN	Q	52	ENSP00000381206:R52Q	ENSP00000381206:R52Q	R	-	2	0	RDH16	55637359	0.000000	0.05858	0.577000	0.28562	0.042000	0.13812	0.073000	0.14640	0.553000	0.29044	0.655000	0.94253	CGA		0.602	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		99	369	0	0	0	1	0	99	369					T	57351092	C	T	57351092	3	4	79	1	0	0	0	0	1	0	0	0	13244	884	31	1	814	1	RDH16	12	57351092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5132	57351092	76500803	13444	23761											
GPR182	11318	broad.mit.edu	37	chr12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaccaagcgcgtggtcCtctttgccctctacctggcc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	56					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(166-168)Ctc>Atc		G protein-coupled receptor 182							211	189	197					12																	57389159		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389159C>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.166C>A	12.37:g.57389159C>A	ENSP00000300098:p.Leu56Ile						p.L56I	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	385	+			56						Missense_Mutation	SNP	ENST00000300098.1	37	c.166C>A	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759994	0.69763	.	.	ENSG00000166856	ENST00000300098	T	0.43294	0.95	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.40448	0.1117	L	0.34521	1.04	0.44201	D	0.997028	D	0.58620	0.983	P	0.53313	0.723	T	0.12192	-1.0557	10	0.41790	T	0.15	.	8.6249	0.33883	0.0:0.8967:0.0:0.1033	.	56	O15218	GP182_HUMAN	I	56	ENSP00000300098:L56I	ENSP00000300098:L56I	L	+	1	0	GPR182	55675426	1.000000	0.71417	0.897000	0.35233	0.901000	0.52897	3.782000	0.55401	2.504000	0.84457	0.561000	0.74099	CTC		0.592	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		145	607	1	0	1.02459e-47	1	1.26223e-47	145	607					A	57389159	C	A	57389159	3	1	79	1	0	0	0	0	1	0	0	0	6706	681	24	3	168	3	GPR182	12	57389159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38067	57389159	76462736	13445	23762											
GPR182	11318	broad.mit.edu	37	chr12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcgggccatgtgtgcaGgcatctgggtcctctcggcc	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	176					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(526-528)Ggc>Tgc		G protein-coupled receptor 182							74	64	67					12																	57389519		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389519G>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.526G>T	12.37:g.57389519G>T	ENSP00000300098:p.Gly176Cys						p.G176C	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	745	+			176						Missense_Mutation	SNP	ENST00000300098.1	37	c.526G>T	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	g	8.415	0.844990	0.16963	.	.	ENSG00000166856	ENST00000300098	T	0.39056	1.1	4.44	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.249082	0.38492	N	0.001661	T	0.37433	0.1003	L	0.54323	1.7	0.28950	N	0.890447	P	0.39326	0.668	B	0.42882	0.401	T	0.26018	-1.0115	10	0.48119	T	0.1	.	6.053	0.19796	0.1801:0.1574:0.6625:0.0	.	176	O15218	GP182_HUMAN	C	176	ENSP00000300098:G176C	ENSP00000300098:G176C	G	+	1	0	GPR182	55675786	0.999000	0.42202	0.031000	0.17742	0.034000	0.12701	3.007000	0.49536	0.235000	0.21160	-0.217000	0.12591	GGC		0.642	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		18	341	1	0	3.32936e-07	1	3.45006e-07	18	341					T	57389519	G	T	57389519	3	4	79	1	0	0	0	0	1	0	0	0	6706	1000	35	3	528	3	GPR182	12	57389519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360	57389519	76462376	13446	23763											
GPR182	11318	broad.mit.edu	37	chr12	57389924	57389924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgactgcttctccatgCtgcactgtgtcatcaacccc	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(931-933)Ctg>Ttg		G protein-coupled receptor 182							250	217	228					12																	57389924		2203	4300	6503	SO:0001819	synonymous_variant	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389924C>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.931C>T	12.37:g.57389924C>T							p.L311L	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	1150	+			311						Silent	SNP	ENST00000300098.1	37	c.931C>T	CCDS8927.1																																																																																				0.542	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		102	1102	0	0	0	1	0	102	1102					T	57389924	C	T	57389924	2	4	79	1	0	0	0	0	0	0	0	1	6706	796	28	2		2	GPR182	12	57389924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	57389924	76461971	13447	23764											
ZBTB39	9880	broad.mit.edu	37	chr12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcgccagctcttcacccaGaaactcctctgctggcagct	8	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	590					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1768-1770)Ctg>Atg		zinc finger and BTB domain containing 39							52	55	54					12																	57396934		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396934G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1768C>A	12.37:g.57396934G>T	ENSP00000300101:p.Leu590Met						p.L590M	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1853	-			590					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1768C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063297	0.36373	.	.	ENSG00000166860	ENST00000300101	T	0.10860	2.83	5.18	3.37	0.38596	.	0.332649	0.25906	N	0.027539	T	0.10680	0.0261	N	0.19112	0.55	0.25436	N	0.988136	D	0.62365	0.991	P	0.51999	0.687	T	0.07829	-1.0752	10	0.72032	D	0.01	-7.7598	7.0407	0.25019	0.2693:0.0:0.7307:0.0	.	590	O15060	ZBT39_HUMAN	M	590	ENSP00000300101:L590M	ENSP00000300101:L590M	L	-	1	2	ZBTB39	55683201	0.051000	0.20477	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.777000	0.33496	0.655000	0.94253	CTG		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		66	293	1	0	9.61844e-40	1	1.16381e-39	66	293					T	57396934	G	T	57396934	3	4	79	1	0	0	0	0	1	0	0	0	17593	933	33	3	374	3	ZBTB39	12	57396934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7010	57396934	76454961	13448	23765											
ZBTB39	9880	broad.mit.edu	37	chr12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaaagaacttagtttcaCacatgtcgcaggagaaaagg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1213-1215)tGt>tAt		zinc finger and BTB domain containing 39							90	78	82					12																	57397488		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397488C>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1214G>A	12.37:g.57397488C>T	ENSP00000300101:p.Cys405Tyr						p.C405Y	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1299	-			405					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1214G>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587986	0.66105	.	.	ENSG00000166860	ENST00000300101	T	0.58652	0.32	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85036	0.0920	10	0.87932	D	0	-7.2323	17.0969	0.86637	0.0:1.0:0.0:0.0	.	405	O15060	ZBT39_HUMAN	Y	405	ENSP00000300101:C405Y	ENSP00000300101:C405Y	C	-	2	0	ZBTB39	55683755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.644000	0.89710	0.655000	0.94253	TGT		0.522	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		69	255	0	0	0	1	0	69	255					T	57397488	C	T	57397488	3	4	79	1	0	0	0	0	1	0	0	0	17593	478	17	2	928	2	ZBTB39	12	57397488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	554	57397488	76454407	13449	23766											
ZBTB39	9880	broad.mit.edu	37	chr12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccaactcatcctcaCtgtcatcactcagctcaatc	3	16	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(976-978)aGt>aTt		zinc finger and BTB domain containing 39							236	211	220					12																	57397725		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397725C>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.977G>T	12.37:g.57397725C>A	ENSP00000300101:p.Ser326Ile						p.S326I	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1062	-			326					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.977G>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842889	0.51057	.	.	ENSG00000166860	ENST00000300101	T	0.09723	2.95	4.9	4.9	0.64082	.	0.161766	0.56097	D	0.000036	T	0.23410	0.0566	L	0.38175	1.15	0.47862	D	0.999532	D	0.65815	0.995	D	0.75484	0.986	T	0.00494	-1.1706	10	0.40728	T	0.16	-11.7735	15.6413	0.77006	0.0:1.0:0.0:0.0	.	326	O15060	ZBT39_HUMAN	I	326	ENSP00000300101:S326I	ENSP00000300101:S326I	S	-	2	0	ZBTB39	55683992	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.722000	0.54948	2.547000	0.85894	0.655000	0.94253	AGT		0.507	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		94	879	1	0	3.16549e-35	1	3.77663e-35	94	879					A	57397725	C	A	57397725	3	1	79	1	0	0	0	0	1	0	0	0	17593	565	20	3	1165	3	ZBTB39	12	57397725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	57397725	76454170	13450	23767											
MYO1A	4640	broad.mit.edu	37	chr12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccggctcagcaatcGgtacctttccaggaagggcc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	639	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1915-1917)Cga>Tga		myosin IA							53	52	52					12																	57431699		2203	4300	6503	SO:0001587	stop_gained	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431699G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1915C>T	12.37:g.57431699G>A	ENSP00000393392:p.Arg639*					MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*	p.R639*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			19	2202	-			639			Myosin head-like.		Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	37	c.1915C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067101	0.98040	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.13	3.09	0.35607	.	0.070096	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0791	0.48049	0.0:0.0:0.666:0.334	.	.	.	.	X	639;639;477	.	ENSP00000300119:R639X	R	-	1	2	MYO1A	55717966	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	3.906000	0.56340	2.396000	0.81511	0.655000	0.94253	CGA		0.627	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		42	197	0	0	0	1	0	42	197					A	57431699	G	A	57431699	4	1	79	1	0	0	0	0	0	1	0	0	10109	1124	39	1	1260	1	MYO1A	12	57431699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33974	57431699	76420196	13451	23768											
MYO1A	4640	broad.mit.edu	37	chr12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccatttcaccttgcccGcatagtggcagatgcggaag	11	13	1	1	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1525-1527)gCg>gTg		myosin IA		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55	52	53		1526	4.6	1	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432600G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1526C>T	12.37:g.57432600G>A	ENSP00000393392:p.Ala509Val					MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000476795.1_5'UTR	p.A509V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			17	1813	-			509			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1526C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG		0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		40	194	0	0	0	1	0	40	194					A	57432600	G	A	57432600	3	1	79	1	0	0	0	0	1	0	0	0	10109	1087	38	1	1657	1	MYO1A	12	57432600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	57432600	76419295	13452	23769											
TMEM194A	23306	broad.mit.edu	37	chr12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcatagatttcatcCtgggcaataatgctccctaa	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	416						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1246-1248)caG>caT		transmembrane protein 194A							122	102	109					12																	57453749		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57453749C>A	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"transmembrane protein 194"	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1248G>T	12.37:g.57453749C>A	ENSP00000300128:p.Gln416His					TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	p.Q416H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			9	1271	-			416					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.1248G>T	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576794	0.86645	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.45276	0.91;0.9	5.61	3.78	0.43462	.	0.050665	0.85682	D	0.000000	T	0.39200	0.1069	L	0.51422	1.61	0.33505	D	0.590422	P;P	0.44195	0.736;0.828	B;P	0.45138	0.28;0.471	T	0.56998	-0.7886	10	0.87932	D	0	-4.3227	6.9108	0.24335	0.0:0.7363:0.0:0.2637	.	416;343	O14524;O14524-2	T194A_HUMAN;.	H	343;416	ENSP00000368701:Q343H;ENSP00000300128:Q416H	ENSP00000300128:Q416H	Q	-	3	2	TMEM194A	55740016	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	1.595000	0.36708	1.364000	0.46038	0.561000	0.74099	CAG		0.463	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		48	143	1	0	4.18559e-23	1	4.75231e-23	48	143					A	57453749	C	A	57453749	3	1	79	1	0	0	0	0	1	0	0	0	16168	680	24	3	90	3	TMEM194A	12	57453749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21149	57453749	76398146	13453	23770											
NAB2	4665	broad.mit.edu	37	chr12	57487215	57487215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatgtccaaggctgacGccgccccctgctgacctgcc	12	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	434					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1300-1302)acG>acA		NGFI-A binding protein 2 (EGR1 binding protein 2)							13	15	14					12																	57487215		2186	4281	6467	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487215G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1302G>A	12.37:g.57487215G>A						NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	p.T434T	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1680	+			434					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1302G>A	CCDS8930.1																																																																																				0.652	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		11	60	0	0	0	1	0	11	60					A	57487215	G	A	57487215	2	1	79	1	0	0	0	0	0	0	0	1	10173	1074	38	1		1	NAB2	12	57487215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33466	57487215	76364680	13454	23771											
STAT6	6778	broad.mit.edu	37	chr12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggtcataagaaggcaCcatggtaggcatctggagct	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000300134.3	-	18	2324	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	667					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TAAGAAGGCACCATGGTAGGC	0.552																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1999-2001)Gtg>Atg		signal transducer and activator of transcription 6, interleukin-4 induced							179	183	181					12																	57492642		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57492642C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1999G>A	12.37:g.57492642C>T	ENSP00000300134:p.Val667Met					STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M	p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			18	2324	-			667					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1999G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074910	0.36566	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.91945	-2.7;-2.94;-2.7;-2.7;-2.94;-2.7;-1.14	5.91	-2.12	0.07165	.	0.859837	0.10251	N	0.697198	D	0.82962	0.5151	N	0.24115	0.695	0.29201	N	0.875242	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68232	-0.5463	10	0.46703	T	0.11	-1.3655	5.7139	0.17950	0.0:0.316:0.3716:0.3124	.	667;667	A8K4S9;P42226	.;STAT6_HUMAN	M	667;557;557;667;667;557;667;557;95;667	ENSP00000300134:V667M;ENSP00000445409:V557M;ENSP00000438451:V667M;ENSP00000451742:V667M;ENSP00000444530:V557M;ENSP00000401486:V667M;ENSP00000450428:V95M	ENSP00000300134:V667M	V	-	1	0	STAT6	55778909	0.020000	0.18652	0.064000	0.19789	0.933000	0.57130	-1.084000	0.03393	-0.754000	0.04715	-0.140000	0.14226	GTG		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	398	0	0	0	1	0	11	398					T	57492642	C	T	57492642	3	4	79	1	0	0	0	0	1	0	0	0	15322	507	18	2	564	2	STAT6	12	57492642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5427	57492642	76359253	13455	23772											
STAT6	6778	broad.mit.edu	37	chr12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacgcttgtagtggctcCggaaagcctcatccttgggc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000300134.3	-	16	2202	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	626	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1876-1878)cGg>cAg		signal transducer and activator of transcription 6, interleukin-4 induced							92	95	94					12																	57493091		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493091C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1877G>A	12.37:g.57493091C>T	ENSP00000300134:p.Arg626Gln					STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q	p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			16	2202	-			626			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1877G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610067	0.46527	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.8	4.8	0.61643	SH2 motif (2);	0.203658	0.43416	D	0.000561	D	0.88959	0.6579	N	0.12182	0.205	0.36482	D	0.867902	B;P	0.44946	0.154;0.846	B;B	0.27380	0.01;0.079	D	0.92008	0.5616	10	0.45353	T	0.12	-18.9484	15.7354	0.77839	0.0:1.0:0.0:0.0	.	626;626	A8K4S9;P42226	.;STAT6_HUMAN	Q	626;516;516;626;626;516;626;516;54;626	ENSP00000300134:R626Q;ENSP00000445409:R516Q;ENSP00000438451:R626Q;ENSP00000451742:R626Q;ENSP00000444530:R516Q;ENSP00000401486:R626Q;ENSP00000450428:R54Q	ENSP00000300134:R626Q	R	-	2	0	STAT6	55779358	0.961000	0.32948	1.000000	0.80357	0.991000	0.79684	1.989000	0.40707	2.664000	0.90586	0.561000	0.74099	CGG		0.587	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		115	420	0	0	0	1	0	115	420					T	57493091	C	T	57493091	3	4	79	1	0	0	0	0	1	0	0	0	15322	652	23	1	694	1	STAT6	12	57493091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	57493091	76358804	13456	23773											
STAT6	6778	broad.mit.edu	37	chr12	57499063	57499063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggaatcgaactccaGcctggaacttggtctgagtc	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499063G>A	ENST00000300134.3	-	9	1197	c.872C>T	c.(871-873)gCt>gTt	p.A291V	STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	291					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCGAACTCCAGCCTGGAACTT	0.627																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(871-873)gCt>gTt		signal transducer and activator of transcription 6, interleukin-4 induced							41	46	44					12																	57499063		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499063G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.872C>T	12.37:g.57499063G>A	ENSP00000300134:p.Ala291Val					STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V	p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1197	-			291					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.872C>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004075	0.93287	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.64	4.64	0.57946	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.060447	0.64402	D	0.000003	T	0.76601	0.4010	N	0.20304	0.555	0.58432	D	0.999997	D;D	0.71674	0.998;0.994	D;D	0.70227	0.968;0.949	T	0.80520	-0.1346	10	0.87932	D	0	-10.5878	15.0492	0.71854	0.0:0.0:1.0:0.0	.	291;291	A8K4S9;P42226	.;STAT6_HUMAN	V	291;181;181;291;291;181;291;181;291	ENSP00000300134:A291V;ENSP00000445409:A181V;ENSP00000438451:A291V;ENSP00000451742:A291V;ENSP00000444530:A181V;ENSP00000401486:A291V	ENSP00000300134:A291V	A	-	2	0	STAT6	55785330	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.485000	0.97942	2.403000	0.81681	0.561000	0.74099	GCT		0.627	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	400	0	0	0	1	0	11	400					A	57499063	G	A	57499063	3	1	79	1	0	0	0	0	1	0	0	0	15322	971	34	2	1727	2	STAT6	12	57499063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5972	57499063	76352832	13457	23774											
STAT6	6778	broad.mit.edu	37	chr12	57499295	57499295	+	Silent	SNP	C	C	T													tcatccagccggccagtcagCgatgcccgggtcttgggctc					rs559027154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000300134.3	-	8	1093	c.768G>A	c.(766-768)tcG>tcA	p.S256S	STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	256					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16429	0.0		0.0	False		,,,				2504	0.0					ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(766-768)tcG>tcA		signal transducer and activator of transcription 6, interleukin-4 induced							48	52	51					12																	57499295		2203	4300	6503	SO:0001819	synonymous_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499295C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.768G>A	12.37:g.57499295C>T						STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000454075.3_Silent_p.S256S	p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			8	1093	-			256					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	ENST00000300134.3	37	c.768G>A	CCDS8931.1																																																																																				0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		38	164	0	0	0	1	0	38	164					T	57499295	C	T	57499295	2	4	79	1	0	0	0	0	0	0	0	1	15322	755	27	1		1	STAT6	12	57499295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232	57499295	76352600	13458	23775	151	2									
STAT6	6778	broad.mit.edu	37	chr12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A													ccggccagtcagcgatgcccGggtcttgggctcaagctccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000300134.3	-	8	1085	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGATGCCCGGGTCTTGGGC	0.617																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(760-762)Cgg>Tgg		signal transducer and activator of transcription 6, interleukin-4 induced							44	48	46					12																	57499303		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499303G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.760C>T	12.37:g.57499303G>A	ENSP00000300134:p.Arg254Trp					STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W	p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			8	1085	-			254					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.760C>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039745	0.35989	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.19	3.33	0.38152	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.207808	0.33515	N	0.004828	T	0.55337	0.1914	N	0.22421	0.69	0.37815	D	0.928196	D;D	0.69078	0.997;0.983	P;P	0.54815	0.761;0.545	T	0.60311	-0.7288	10	0.72032	D	0.01	-18.7629	6.2986	0.21099	0.0923:0.0:0.7261:0.1816	.	254;254	A8K4S9;P42226	.;STAT6_HUMAN	W	254;144;144;254;254;144;254;144;254	ENSP00000300134:R254W;ENSP00000445409:R144W;ENSP00000438451:R254W;ENSP00000451742:R254W;ENSP00000444530:R144W;ENSP00000401486:R254W	ENSP00000300134:R254W	R	-	1	2	STAT6	55785570	0.990000	0.36364	1.000000	0.80357	0.005000	0.04900	2.916000	0.48813	0.749000	0.32854	-0.140000	0.14226	CGG		0.617	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		33	153	0	0	0	1	0	33	153					A	57499303	G	A	57499303	3	1	79	1	0	0	0	0	1	0	0	0	15322	1115	39	1	1843	1	STAT6	12	57499303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	57499303	76352592	13459	23776	151	2									
LRP1	4035	broad.mit.edu	37	chr12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctaccatcacacctacgaGcacgcggcagaccacagcca	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000243077.3	+	6	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	226					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(676-678)aGc>aTc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						113	66	82					12																	57539109		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57539109G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.677G>T	12.37:g.57539109G>T	ENSP00000243077:p.Ser226Ile					LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Missense_Mutation_p.S226I	p.S226I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	6	1143	+			226					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.677G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421785	0.43020	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.91124	-2.65;-2.79;-2.6;-2.79	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.130255	0.48286	D	0.000194	D	0.88043	0.6331	M	0.62723	1.935	0.37173	D	0.903141	B;B;B;P	0.45902	0.244;0.244;0.411;0.868	B;B;B;B	0.36666	0.075;0.079;0.097;0.23	D	0.90319	0.4343	10	0.42905	T	0.14	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	226;226;226;226	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	I	226	ENSP00000451449:S226I;ENSP00000243077:S226I;ENSP00000341264:S226I;ENSP00000451737:S226I	ENSP00000243077:S226I	S	+	2	0	LRP1	55825376	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	3.498000	0.53302	2.826000	0.97356	0.655000	0.94253	AGC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		30	178	1	0	2.12542e-12	1	2.28249e-12	30	178					T	57539109	G	T	57539109	3	4	79	1	0	0	0	0	1	0	0	0	8989	971	34	3	699	3	LRP1	12	57539109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39806	57539109	76312786	13460	23777											
LRP1	4035	broad.mit.edu	37	chr12	57559588	57559588	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcctgtggtgcccacagCgaacccatcctacgtgcctc	9	17	0	0	rs532661685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	844					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e16-1		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68	69	68					12																	57559588		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559588C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2531-1C>T	12.37:g.57559588C>T							p.A844_splice	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	16	2997	+			844					Q2PP12|Q86SW0|Q8IVG8	Splice_Site	SNP	ENST00000243077.3	37	c.2530_splice	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456331	0.63401	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	N	0.26042	0.785	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	D	0.84772	0.0768	9	.	.	.	.	11.8265	0.52269	0.0:0.9158:0.0:0.0842	.	844	Q07954	LRP1_HUMAN	V	844	ENSP00000243077:A844V	.	A	+	2	0	LRP1	55845855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.597000	0.67577	2.826000	0.97356	0.561000	0.74099	GCG		0.552	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Missense_Mutation	67	320	0	0	0	1	0	67	320					T	57559588	C	T	57559588	5	4	79	1	0	0	0	0	0	0	1	0	8989	782	27	1	2593	1	LRP1	12	57559588	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20479	57559588	76292307	13461	23778											
LRP1	4035	broad.mit.edu	37	chr12	57577289	57577289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcggcatcgacttccaCgctggtgagccatttggtgg	14	11	0	1	rs560161034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1930					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19292	0.001		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5788-5790)caC>caT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46	42	43					12																	57577289		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577289C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5790C>T	12.37:g.57577289C>T							p.H1930H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	35	6256	+			1930					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5790C>T	CCDS8932.1																																																																																				0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		29	132	0	0	0	1	0	29	132					T	57577289	C	T	57577289	2	4	79	1	0	0	0	0	0	0	0	1	8989	535	19	1		1	LRP1	12	57577289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17701	57577289	76274606	13462	23779											
LRP1	4035	broad.mit.edu	37	chr12	57577893	57577893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctactggacagaccagggCtttgatgtcatcgaggtcgc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1985					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5953-5955)ggC>ggA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86	61	70					12																	57577893		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577893C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5955C>A	12.37:g.57577893C>A							p.G1985G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	37	6421	+			1985					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5955C>A	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		33	170	1	0	3.33393e-15	1	3.63836e-15	33	170					A	57577893	C	A	57577893	2	1	79	1	0	0	0	0	0	0	0	1	8989	784	28	3		3	LRP1	12	57577893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	57577893	76274002	13463	23780											
LRP1	4035	broad.mit.edu	37	chr12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgcgaaccggcatcgGcgtccagcttaaagacatca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6415-6417)gGc>gAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68	70	69					12																	57578941		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57578941G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6416G>A	12.37:g.57578941G>A	ENSP00000243077:p.Gly2139Asp						p.G2139D	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	40	6882	+			2139					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6416G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	LRP1	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		82	411	0	0	0	1	0	82	411					A	57578941	G	A	57578941	3	1	79	1	0	0	0	0	1	0	0	0	8989	1203	42	2	6574	2	LRP1	12	57578941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1048	57578941	76272954	13464	23781											
LRP1	4035	broad.mit.edu	37	chr12	57587035	57587035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacttcagcctgacctgCgacggcgtcccccactgcaa	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2544	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7630-7632)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98	80	86					12																	57587035		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587035C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7632C>T	12.37:g.57587035C>T							p.C2544C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	46	8098	+			2544			LDL-receptor class A 11.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.7632C>T	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		76	338	0	0	0	1	0	76	338					T	57587035	C	T	57587035	2	4	79	1	0	0	0	0	0	0	0	1	8989	776	27	1		1	LRP1	12	57587035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8094	57587035	76264860	13465	23782											
LRP1	4035	broad.mit.edu	37	chr12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcagtgcagcaatgggCgctgtgtgtccaacatgctg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2577	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7729-7731)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84	74	78					12																	57587393		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587393C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7729C>T	12.37:g.57587393C>T	ENSP00000243077:p.Arg2577Cys						p.R2577C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	47	8195	+			2577			LDL-receptor class A 12.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7729C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873444	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	2577	Q07954	LRP1_HUMAN	C	2577	ENSP00000243077:R2577C	ENSP00000243077:R2577C	R	+	1	0	LRP1	55873660	0.990000	0.36364	0.993000	0.49108	0.571000	0.35966	3.867000	0.56047	2.606000	0.88127	0.655000	0.94253	CGC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		35	163	0	0	0	1	0	35	163					T	57587393	C	T	57587393	3	4	79	1	0	0	0	0	1	0	0	0	8989	768	27	1	7915	1	LRP1	12	57587393	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358	57587393	76264502	13466	23783											
LRP1	4035	broad.mit.edu	37	chr12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggcgagttccgctgcCgggacgggacctgcatcggg	19	11	0	0	rs367968116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2613	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7837-7839)Cgg>Tgg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C	TRP/ARG	0,4406		0,0,2203	97	89	92		7837	4.2	1	12		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2613/4545	57587714	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587714C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7837C>T	12.37:g.57587714C>T	ENSP00000243077:p.Arg2613Trp						p.R2613W	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	48	8303	+			2613			LDL-receptor class A 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7837C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803636	0.50315	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	5.09	4.19	0.49359	.	0.164278	0.37261	N	0.002175	D	0.96617	0.8896	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	D	0.96868	0.9637	10	0.66056	D	0.02	.	14.7368	0.69422	0.0:0.8543:0.1457:0.0	.	2613	Q07954	LRP1_HUMAN	W	2613	ENSP00000243077:R2613W	ENSP00000243077:R2613W	R	+	1	2	LRP1	55873981	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.355000	0.34068	1.368000	0.46115	0.650000	0.86243	CGG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		50	247	0	0	0	1	0	50	247					T	57587714	C	T	57587714	3	4	79	1	0	0	0	0	1	0	0	0	8989	643	23	1	8027	1	LRP1	12	57587714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321	57587714	76264181	13467	23784											
LRP1	4035	broad.mit.edu	37	chr12	57588276	57588276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactacagtgatgagcgCgactgcccaggtgggcgggg	20	9	0	2	rs545868364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2686	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8056-8058)cgC>cgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						85	85	85					12																	57588276		2203	4299	6502	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588276C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8058C>T	12.37:g.57588276C>T							p.R2686R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	49	8524	+			2686			LDL-receptor class A 14.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8058C>T	CCDS8932.1																																																																																				0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		82	851	0	0	0	1	0	82	851					T	57588276	C	T	57588276	2	4	79	1	0	0	0	0	0	0	0	1	8989	755	27	1		1	LRP1	12	57588276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	562	57588276	76263619	13468	23785											
LRP1	4035	broad.mit.edu	37	chr12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgacggccggacgtgtgCtgatgtggacgagtgcagca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2981	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8941-8943)gCt>gTt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						81	74	76					12																	57590814		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590814C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8942C>T	12.37:g.57590814C>T	ENSP00000243077:p.Ala2981Val						p.A2981V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	56	9408	+			2981			EGF-like 11.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8942C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145484	0.37825	.	.	ENSG00000123384	ENST00000243077	D	0.93189	-3.18	5.34	4.45	0.53987	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.427349	0.21337	N	0.076199	D	0.82375	0.5023	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75291	-0.3369	10	0.24483	T	0.36	.	7.1939	0.25841	0.0:0.7505:0.0:0.2495	.	2981	Q07954	LRP1_HUMAN	V	2981	ENSP00000243077:A2981V	ENSP00000243077:A2981V	A	+	2	0	LRP1	55877081	0.900000	0.30661	0.607000	0.28956	0.903000	0.53119	3.175000	0.50855	1.489000	0.48450	0.511000	0.50034	GCT		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	234	0	0	0	1	0	26	234					T	57590814	C	T	57590814	3	4	79	1	0	0	0	0	1	0	0	0	8989	797	28	2	9164	2	LRP1	12	57590814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2538	57590814	76261081	13469	23786											
LRP1	4035	broad.mit.edu	37	chr12	57598459	57598459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttgcaagaatgaccgCgtctgtctgtggatcgggcg	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57598459C>T	ENST00000243077.3	+	72	11587	c.11121C>T	c.(11119-11121)cgC>cgT	p.R3707R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3707	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAATGACCGCGTCTGTCTGT	0.632																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11119-11121)cgC>cgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						88	88	88					12																	57598459		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598459C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11121C>T	12.37:g.57598459C>T							p.R3707R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	72	11587	+			3707			LDL-receptor class A 30.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11121C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	618	0	0	0	1	0	11	618					T	57598459	C	T	57598459	2	4	79	1	0	0	0	0	0	0	0	1	8989	755	27	1		1	LRP1	12	57598459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7645	57598459	76253436	13470	23787											
LRP1	4035	broad.mit.edu	37	chr12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccctggccagcacggacGagaagcgagaactcctgggc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4526	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13576-13578)Gag>Aag		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						61	58	59					12																	57606279		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606279G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13576G>A	12.37:g.57606279G>A	ENSP00000243077:p.Glu4526Lys						p.E4526K	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14042	+			4526			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13576G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403715	0.83230	.	.	ENSG00000123384	ENST00000243077	T	0.51817	0.69	4.66	3.75	0.43078	.	0.000000	0.53938	D	0.000054	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70695	-0.4801	10	0.66056	D	0.02	.	13.5221	0.61574	0.0:0.1583:0.8417:0.0	.	4526	Q07954	LRP1_HUMAN	K	4526	ENSP00000243077:E4526K	ENSP00000243077:E4526K	E	+	1	0	LRP1	55892546	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.467000	0.80930	1.130000	0.42092	0.491000	0.48974	GAG		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		59	313	0	0	0	1	0	59	313					A	57606279	G	A	57606279	3	1	79	1	0	0	0	0	1	0	0	0	8989	1059	37	1	13930	1	LRP1	12	57606279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7820	57606279	76245616	13471	23788											
SHMT2	6472	broad.mit.edu	37	chr12	57625629	57625629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtccccagccaacctgGccgtctacacagcccttctg	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000328923.3	+	4	897	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	149					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000393827.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(127-129)tgG>tgA		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						52	48	49					12																	57625629		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57625629G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.445G>A	12.37:g.57625629G>A	ENSP00000333667:p.Ala149Thr					SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000328923.3_Missense_Mutation_p.A149T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T	p.W43*			P34897	GLYM_HUMAN			3	385	+			0					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Nonsense_Mutation	SNP	ENST00000328923.3	37	c.129G>A	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.776594|5.776594	0.96929|0.96929	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	1.35;0.87;0.87;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84000|.	0.5376|.	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|.	0.87028|.	0.2133|.	9|.	0.54805|0.59425	T|D	0.06|0.04	-14.0511|-14.0511	16.9817|16.9817	0.86329|0.86329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158;149;149|.	B4DWA7;Q8N1A5;P34897|.	.;.;GLYM_HUMAN|.	T|X	149;149;149;128;128;128;128;128;128;128;128;128;128|43	ENSP00000333667:A149T;ENSP00000452315:A149T;ENSP00000452035:A149T;ENSP00000406881:A128T;ENSP00000450452:A128T;ENSP00000452161:A128T;ENSP00000450893:A128T;ENSP00000452045:A128T;ENSP00000452419:A128T;ENSP00000451968:A128T;ENSP00000452404:A128T;ENSP00000413770:A128T;ENSP00000451495:A128T|.	ENSP00000333667:A149T|ENSP00000377413:W43X	A|W	+|+	1|3	0|0	SHMT2|SHMT2	55911896|55911896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.657000|9.657000	0.98554|0.98554	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCC|TGG		0.637	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		30	147	0	0	0	1	0	30	147					A	57625629	G	A	57625629	3	1	79	1	0	0	0	0	1	0	0	0	14336	1203	42	2	459	2	SHMT2	12	57625629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19350	57625629	76226266	13472	23789											
SHMT2	6472	broad.mit.edu	37	chr12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagctggcactgactgctcGacttttccggccacggctca	10	16	1	1	rs199498720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	214					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(640-642)cGa>cAa		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	102	101	101		611,578,578,578,641	5.1	1	12		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	SHMT2	NM_001166356.1,NM_001166357.1,NM_001166358.1,NM_001166359.1,NM_005412.5	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	204/495,193/484,193/484,193/484,214/505	57626282	1,13005	2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626282G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.641G>A	12.37:g.57626282G>A	ENSP00000333667:p.Arg214Gln					SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q	p.R214Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1093	+			214					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.641G>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442673	0.43326	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.237070	0.38837	N	0.001543	T	0.31513	0.0799	L	0.47078	1.49	0.48395	D	0.999647	D;P;P;P;P	0.54772	0.968;0.837;0.862;0.93;0.911	B;B;B;B;B	0.34873	0.144;0.191;0.161;0.087;0.068	T	0.19353	-1.0308	10	0.12103	T	0.63	-4.0994	17.7941	0.88564	0.0:0.0:1.0:0.0	.	223;204;118;145;214	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	214;204;53;193;193;193;193;118	ENSP00000333667:R214Q;ENSP00000452315:R204Q;ENSP00000450930:R53Q;ENSP00000406881:R193Q;ENSP00000452419:R193Q;ENSP00000452404:R193Q;ENSP00000413770:R193Q;ENSP00000377413:R118Q	ENSP00000333667:R214Q	R	+	2	0	SHMT2	55912549	0.984000	0.35163	0.983000	0.44433	0.959000	0.62525	4.199000	0.58426	2.816000	0.96949	0.563000	0.77884	CGA		0.582	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		149	688	0	0	0	1	0	149	688					A	57626282	G	A	57626282	3	1	79	1	0	0	0	0	1	0	0	0	14336	1058	37	1	663	1	SHMT2	12	57626282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653	57626282	76225613	13473	23790											
SHMT2	6472	broad.mit.edu	37	chr12	57626358	57626358	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgcccgcatgagagaGgttggtggggggggctggag	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D|SHMT2_ENST00000393827.4_Splice_Site_p.E143D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	239					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.e6+1		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						58	66	63					12																	57626358		2203	4300	6503	SO:0001630	splice_region_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626358G>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.717+1G>T	12.37:g.57626358G>T						SHMT2_ENST00000414700.3_Splice_Site_p.E218_splice|SHMT2_ENST00000393827.4_Splice_Site_p.E143_splice|SHMT2_ENST00000449049.3_Splice_Site_p.E218_splice|SHMT2_ENST00000553474.1_Splice_Site_p.E218_splice|SHMT2_ENST00000557487.1_Splice_Site_p.E229_splice	p.E239_splice	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1169	+			239					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Splice_Site	SNP	ENST00000328923.3	37	c.717_splice	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.183758|4.183758	0.78677|0.78677	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.50001|.	1.29;0.76;0.76;1.29;1.29;1.29;0.76|.	5.09|5.09	4.2|4.2	0.49525|0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.051686|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.66506|0.66506	2.035|2.035	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P;B|.	0.45768|.	0.578;0.293;0.139;0.866;0.259|.	B;B;B;P;B|.	0.48873|.	0.388;0.297;0.12;0.593;0.174|.	T|T	0.70142|0.70142	-0.4953|-0.4953	10|5	0.59425|.	D|.	0.04|.	-0.8048|-0.8048	12.9784|12.9784	0.58549|0.58549	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	248;229;143;170;239|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	D|C	239;229;78;218;218;218;143|39	ENSP00000333667:E239D;ENSP00000452315:E229D;ENSP00000450930:E78D;ENSP00000406881:E218D;ENSP00000452419:E218D;ENSP00000413770:E218D;ENSP00000377413:E143D|.	ENSP00000333667:E239D|.	E|G	+|+	3|1	2|0	SHMT2|SHMT2	55912625|55912625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	8.000000|8.000000	0.88501|0.88501	1.522000|1.522000	0.49001|0.49001	0.563000|0.563000	0.77884|0.77884	GAG|GGT		0.667	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	120	630	1	0	7.79355e-45	1	9.54326e-45	120	630					T	57626358	G	T	57626358	5	4	79	1	0	0	0	0	0	0	1	0	14336	1014	35	3	739	3	SHMT2	12	57626358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	57626358	76225537	13474	23791											
INHBC	3626	broad.mit.edu	37	chr12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgccccctgtctctgCtctattatgacagggacagc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	328					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(982-984)Ctc>Ttc		inhibin, beta C							62	66	65					12																	57843728		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843728C>T		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.982C>T	12.37:g.57843728C>T	ENSP00000308716:p.Leu328Phe					INHBC_ENST00000550133.1_Intron	p.L328F	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	1109	+			328					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.982C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736685	0.69304	.	.	ENSG00000175189	ENST00000309668	D	0.87029	-2.2	4.27	4.27	0.50696	Transforming growth factor-beta, C-terminal (3);	0.066311	0.64402	D	0.000011	D	0.94663	0.8279	M	0.91920	3.255	0.50632	D	0.999884	D	0.89917	1.0	D	0.87578	0.998	D	0.95477	0.8557	9	.	.	.	-14.9598	16.6692	0.85261	0.0:1.0:0.0:0.0	.	328	P55103	INHBC_HUMAN	F	328	ENSP00000308716:L328F	.	L	+	1	0	INHBC	56129995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.678000	0.91216	0.655000	0.94253	CTC		0.562	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		80	359	0	0	0	1	0	80	359					T	57843728	C	T	57843728	3	4	79	1	0	0	0	0	1	0	0	0	7773	797	28	2	988	2	INHBC	12	57843728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217370	57843728	76008167	13475	23792											
GLI1	2735	broad.mit.edu	37	chr12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgccgttgggatggctGcagccaggaatttgactccc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y|GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	242					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(724-726)tGc>tAc		GLI family zinc finger 1							64	64	64					12																	57859671		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57859671G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.725G>A	12.37:g.57859671G>A	ENSP00000228682:p.Cys242Tyr					GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	p.C242Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		7	816	+			242					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.725G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589314	0.86851	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000022	D	0.98639	0.9544	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	16.3848	0.83501	0.0:0.0:1.0:0.0	.	242	P08151	GLI1_HUMAN	Y	114;114;242;201;201;114	ENSP00000436671:C114Y;ENSP00000437607:C114Y;ENSP00000228682:C242Y;ENSP00000441006:C201Y;ENSP00000434408:C201Y	ENSP00000228682:C242Y	C	+	2	0	GLI1	56145938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.478000	0.83669	0.591000	0.81541	TGC		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		69	279	0	0	0	1	0	69	279					A	57859671	G	A	57859671	3	1	79	1	0	0	0	0	1	0	0	0	6466	1319	46	2	747	2	GLI1	12	57859671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15943	57859671	75992224	13476	23793											
GLI1	2735	broad.mit.edu	37	chr12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctccagggagctgaGgcccttcaaagcccagtaca	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000546141.1_Missense_Mutation_p.R239M|GLI1_ENST00000543426.1_Missense_Mutation_p.R152M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(838-840)aGg>aTg		GLI family zinc finger 1							106	100	102					12																	57860099		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860099G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.839G>T	12.37:g.57860099G>T	ENSP00000228682:p.Arg280Met					GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	p.R280M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	930	+			280					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.839G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;D;D;D;D	0.94092	0.54;-3.35;-3.35;-3.35;-3.35	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	D	0.95079	0.8406	L	0.49455	1.56	0.54753	D	0.999982	D	0.54397	0.966	D	0.66847	0.947	D	0.95639	0.8696	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	280	P08151	GLI1_HUMAN	M	152;152;280;239;239;152	ENSP00000436671:R152M;ENSP00000437607:R152M;ENSP00000228682:R280M;ENSP00000441006:R239M;ENSP00000434408:R239M	ENSP00000228682:R280M	R	+	2	0	GLI1	56146366	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	2.340000	0.43974	2.295000	0.77249	0.655000	0.94253	AGG		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		156	609	1	0	4.34486e-62	1	5.47472e-62	156	609					T	57860099	G	T	57860099	3	4	79	1	0	0	0	0	1	0	0	0	6466	1000	35	3	865	3	GLI1	12	57860099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	57860099	75991796	13477	23794											
GLI1	2735	broad.mit.edu	37	chr12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccaccagagaatggagCatcctccctgcctggcctta	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000546141.1_Missense_Mutation_p.A534V|GLI1_ENST00000543426.1_Missense_Mutation_p.A447V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	575					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1723-1725)gCa>gTa		GLI family zinc finger 1							64	60	62					12																	57864247		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864247C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1724C>T	12.37:g.57864247C>T	ENSP00000228682:p.Ala575Val					GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	p.A575V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1815	+			575					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1724C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148306	0.21288	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.14266	2.7;2.52;2.61;2.61	3.86	2.03	0.26663	.	0.476605	0.17850	N	0.159887	T	0.10208	0.0250	L	0.42245	1.32	0.32065	N	0.595215	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.41790	T	0.15	.	4.1612	0.10284	0.0:0.5937:0.1928:0.2135	.	575	P08151	GLI1_HUMAN	V	447;575;534;534	ENSP00000437607:A447V;ENSP00000228682:A575V;ENSP00000441006:A534V;ENSP00000434408:A534V	ENSP00000228682:A575V	A	+	2	0	GLI1	56150514	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	-0.088000	0.11198	0.596000	0.29794	0.491000	0.48974	GCA		0.632	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		75	403	0	0	0	1	0	75	403					T	57864247	C	T	57864247	3	4	79	1	0	0	0	0	1	0	0	0	6466	710	25	2	1766	2	GLI1	12	57864247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4148	57864247	75987648	13478	23795											
GLI1	2735	broad.mit.edu	37	chr12	57864506	57864506	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggttcaagagcctgggCtgtgtccataccccacccac	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000546141.1_Silent_p.G620G|GLI1_ENST00000543426.1_Silent_p.G533G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	661					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1981-1983)ggC>ggA		GLI family zinc finger 1							34	35	35					12																	57864506		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864506C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1983C>A	12.37:g.57864506C>A						GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	p.G661G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2074	+			661					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.1983C>A	CCDS8940.1																																																																																				0.607	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		38	146	1	0	2.87052e-16	1	3.15093e-16	38	146					A	57864506	C	A	57864506	2	1	79	1	0	0	0	0	0	0	0	1	6466	784	28	3		3	GLI1	12	57864506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259	57864506	75987389	13479	23796											
ARHGAP9	64333	broad.mit.edu	37	chr12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtataagtaaaggcatagaGggcacagagctgggatcccc	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000356411.2	-	2	226	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L101F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	30	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(301-303)Ctc>Ttc		Rho GTPase activating protein 9							58	58	58					12																	57873102		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.chr12:57873102G>A	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.88C>T	12.37:g.57873102G>A	ENSP00000348782:p.Leu30Phe					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L30F	p.L101F			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	493	-			30					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.301C>T		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843155	0.71488	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.79	3.88	0.44766	Src homology-3 domain (4);	0.110363	0.41823	D	0.000814	T	0.79347	0.4430	M	0.89414	3.03	0.28020	N	0.934572	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.998;0.976;0.986	T	0.72121	-0.4386	10	0.54805	T	0.06	.	9.5783	0.39472	0.1051:0.0:0.8949:0.0	.	30;109;30;30;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	30;30;30;101;79	ENSP00000377380:L30F;ENSP00000348782:L30F;ENSP00000394307:L30F;ENSP00000377386:L101F	ENSP00000344852:L79F	L	-	1	0	ARHGAP9	56159369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.208000	0.58486	2.357000	0.79964	0.655000	0.94253	CTC		0.592	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		44	427	0	0	0	1	0	44	427					A	57873102	G	A	57873102	3	1	79	1	0	0	0	0	1	0	0	0	889	1000	35	2	2175	2	ARHGAP9	12	57873102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8596	57873102	75978793	13480	23797											
KIF5A	3798	broad.mit.edu	37	chr12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtggtcaagcggtgccGgcagctggagaacctccagg	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	606					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCGGTGCCGGCAGCTGGAG	0.572																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1816-1818)cGg>cAg		kinesin family member 5A							54	46	49					12																	57968967		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57968967G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1817G>A	12.37:g.57968967G>A	ENSP00000408979:p.Arg606Gln					KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	p.R606Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			16	2091	+			606					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1817G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139318	0.56936	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85861	-2.04;-2.04	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.38838	1.175	0.49299	D	0.999772	B;B	0.22800	0.075;0.033	B;B	0.14578	0.011;0.011	T	0.72666	-0.4224	10	0.15952	T	0.53	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	517;606	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	606;517	ENSP00000408979:R606Q;ENSP00000286452:R517Q	ENSP00000286452:R517Q	R	+	2	0	KIF5A	56255234	0.972000	0.33761	1.000000	0.80357	0.992000	0.81027	1.429000	0.34903	2.504000	0.84457	0.655000	0.94253	CGG		0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		26	103	0	0	0	1	0	26	103					A	57968967	G	A	57968967	3	1	79	1	0	0	0	0	1	0	0	0	8335	1116	39	1	1879	1	KIF5A	12	57968967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95865	57968967	75882928	13481	23798											
KIF5A	3798	broad.mit.edu	37	chr12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctatgactccttgagcgatGagctggccaagctccaggcc	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	667					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTTGAGCGATGAGCTGGCCAA	0.527																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1999-2001)Gag>Aag		kinesin family member 5A							160	155	157					12																	57969516		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969516G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1999G>A	12.37:g.57969516G>A	ENSP00000408979:p.Glu667Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	p.E667K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			17	2273	+			667					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1999G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416643	0.96092	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84070	-1.8;-1.8	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.69823	2.125	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58013	0.831;0.831	D	0.88780	0.3270	10	0.48119	T	0.1	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	578;667	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	667;578	ENSP00000408979:E667K;ENSP00000286452:E578K	ENSP00000286452:E578K	E	+	1	0	KIF5A	56255783	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.570000	0.98174	2.440000	0.82611	0.655000	0.94253	GAG		0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		192	905	0	0	0	1	0	192	905					A	57969516	G	A	57969516	3	1	79	1	0	0	0	0	1	0	0	0	8335	1291	45	2	2065	2	KIF5A	12	57969516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	57969516	75882379	13482	23799											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagatcatggactacaGccttctgctaggcatccacg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	282	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(844-846)aGc>aTc		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							234	232	233					12																	57994625		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994625G>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.845G>T	12.37:g.57994625G>T	ENSP00000347032:p.Ser282Ile					PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I	p.S282I			Q8TBX8	PI42C_HUMAN			8	861	+	Melanoma(17;0.122)		282			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.845G>T	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401154|4.401154	0.83120|0.83120	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.042667	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.95073|0.95073	0.8206|0.8206	5|10	.|0.87932	.|D	.|0	-14.8145|-14.8145	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|234;264;282	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	S|I	90|234;282;264;282	.|ENSP00000412035:S234I;ENSP00000439878:S282I;ENSP00000447390:S264I;ENSP00000347032:S282I	.|ENSP00000347032:S282I	A|S	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56280892|56280892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GCC|AGC		0.552	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		292	1404	1	0	6.86218e-66	1	8.67879e-66	292	1404					T	57994625	G	T	57994625	3	4	79	1	0	0	0	0	1	0	0	0	11980	971	34	3	875	3	PIP4K2C	12	57994625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25109	57994625	75857270	13483	23800											
GEFT	115557	broad.mit.edu	37	chr12	58005689	58005689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgccatgcgggggggGcacaaagggggtcgctgtgc	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58005689G>A	ENST00000286494.4	+	1	472	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ARHGEF25_ENST00000333972.7_Intron|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	4						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGGGGGGGCACAAAGGGG	0.761																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(10-12)ggG>ggA		Rho guanine nucleotide exchange factor (GEF) 25							11	13	12					12																	58005689		2165	4223	6388	SO:0001819	synonymous_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58005689G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.12G>A	12.37:g.58005689G>A						ARHGEF25_ENST00000333972.7_Intron	p.G4G	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			1	472	+			4					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	c.12G>A	CCDS8947.1																																																																																				0.761	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		17	79	0	0	0	1	0	17	79					A	58005689	G	A	58005689	2	1	79	1	0	0	0	0	0	0	0	1	6357	1190	42	2		2	GEFT	12	58005689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11064	58005689	75846206	13484	23801											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021501	58021501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgtcggtgaccacgcaGcctgggaagccgacgagctc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58021501G>A	ENST00000341156.4	-	10	1868	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	B4GALNT1_ENST00000418555.2_Silent_p.G373G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	428					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACCACGCAGCCTGGGAAGC	0.687																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1282-1284)ggC>ggT		beta-1,4-N-acetyl-galactosaminyl transferase 1							17	22	20					12																	58021501		2193	4293	6486	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021501G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1284C>T	12.37:g.58021501G>A						B4GALNT1_ENST00000418555.2_Silent_p.G373G	p.G428G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1868	-	Melanoma(17;0.122)		428					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1284C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418635	0.25552	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.5	1.5	0.22942	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41770	-0.9490	4	.	.	.	-12.4085	6.1097	0.20094	0.2443:0.1513:0.6043:0.0	.	.	.	.	V	111	.	.	A	-	2	0	B4GALNT1	56307768	1.000000	0.71417	0.942000	0.38095	0.965000	0.64279	3.843000	0.55865	0.502000	0.28037	0.462000	0.41574	GCT		0.687	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	121	0	0	0	1	0	8	121					A	58021501	G	A	58021501	2	1	79	1	0	0	0	0	0	0	0	1	1267	958	34	2		2	B4GALNT1	12	58021501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15812	58021501	75830394	13485	23802											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022910	58022910	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtgaaagcagcctcatgTccctcggtggagaaccggac	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000341156.4	-	7	1316	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Silent_p.G189G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	244					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(730-732)ggA>ggC		beta-1,4-N-acetyl-galactosaminyl transferase 1							73	67	69					12																	58022910		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022910T>G	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.732A>C	12.37:g.58022910T>G						B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000449184.3_Intron	p.G244G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1316	-	Melanoma(17;0.122)		244					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.732A>C	CCDS8950.1																																																																																				0.552	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		27	108	0	0	0	1	0	27	108					G	58022910	T	G	58022910	2	3	79	1	0	0	0	0	0	0	0	1	1267	1654	58	4		4	B4GALNT1	12	58022910	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1409	58022910	75828985	13486	23803											
AGAP2	116986	broad.mit.edu	37	chr12	58126674	58126674	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcccataggttgcacaagtCtcatagtagctgcagcgttt	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58126674C>T	ENST00000547588.1	-	6	1637	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	AGAP2_ENST00000257897.3_Silent_p.E210E	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	546	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTGCACAAGTCTCATAGTAGC	0.577																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(628-630)gaG>gaA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							282	264	270					12																	58126674		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126674C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1638G>A	12.37:g.58126674C>T						AGAP2_ENST00000547588.1_Silent_p.E546E	p.E210E	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			6	715	-			546			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.630G>A	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112330	0.20795	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	4.01	0.46588	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62374	-0.6868	4	.	.	.	.	12.5231	0.56072	0.0:0.9176:0.0:0.0824	.	.	.	.	N	410	.	.	D	-	1	0	AGAP2	56412941	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.496000	0.35638	1.444000	0.47605	0.655000	0.94253	GAC		0.577	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		23	1730	0	0	0	1	0	23	1730					T	58126674	C	T	58126674	2	4	79	1	0	0	0	0	0	0	0	1	368	912	32	2		2	AGAP2	12	58126674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103764	58126674	75725221	13487	23804											
CDK4	1019	broad.mit.edu	37	chr12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcctcttagaaactggcGcatcagatcctagtttcaaa	8	10	3	2	rs587778185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs34386532). {ECO:0000269|PubMed:17344846}.		cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGAAACTGGCGCATCAGATCC	0.473			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(364-366)Cgc>Tgc		cyclin-dependent kinase 4							83	78	80					12																	58144864		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58144864G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.364C>T	12.37:g.58144864G>A	ENSP00000257904:p.Arg122Cys					CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron	p.R122C	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	729	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		122		R -> H (in dbSNP:rs34386532).	Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.364C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879269	0.51801	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;1.97;1.97	4.76	1.31	0.21738	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299629	0.31199	N	0.008063	T	0.45094	0.1325	L	0.47078	1.49	0.80722	D	1	D	0.65815	0.995	P	0.52758	0.708	T	0.38929	-0.9638	10	0.66056	D	0.02	.	4.5789	0.12248	0.2204:0.0:0.54:0.2396	.	122	P11802	CDK4_HUMAN	C	122;2;48;48;48;122;122	ENSP00000257904:R122C;ENSP00000439076:R2C;ENSP00000447779:R48C;ENSP00000447274:R48C;ENSP00000449391:R48C;ENSP00000449179:R122C;ENSP00000448963:R122C	ENSP00000257904:R122C	R	-	1	0	CDK4	56431131	0.174000	0.23070	1.000000	0.80357	0.969000	0.65631	0.397000	0.20883	0.541000	0.28827	0.655000	0.94253	CGC		0.473	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		91	316	0	0	0	1	0	91	316					A	58144864	G	A	58144864	3	1	79	1	0	0	0	0	1	0	0	0	3150	1087	38	1	567	1	CDK4	12	58144864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18190	58144864	75707031	13488	23805											
CDK4	1019	broad.mit.edu	37	chr12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctacatgctcaaacaccaGggttaccttgatctcccggt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAAACACCAGGGTTACCTTG	0.532			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(271-273)Ctg>Atg		cyclin-dependent kinase 4							182	153	163					12																	58145073		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145073G>T	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.271C>A	12.37:g.58145073G>T	ENSP00000257904:p.Leu91Met					CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron	p.L91M	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	636	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		91			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.271C>A	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235278	0.58886	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;1.69;1.69;1.69	4.92	3.03	0.35002	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	0.64402	D	0.000011	T	0.56863	0.2014	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57300	-0.7835	10	0.72032	D	0.01	.	3.6756	0.08291	0.2819:0.0:0.5468:0.1713	.	91	P11802	CDK4_HUMAN	M	91;17;17;17;91;91;91	ENSP00000257904:L91M;ENSP00000447779:L17M;ENSP00000447274:L17M;ENSP00000449391:L17M;ENSP00000449179:L91M;ENSP00000448963:L91M;ENSP00000446763:L91M	ENSP00000257904:L91M	L	-	1	2	CDK4	56431340	0.971000	0.33674	1.000000	0.80357	0.982000	0.71751	1.644000	0.37228	0.741000	0.32674	-0.253000	0.11424	CTG		0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		116	519	1	0	1.76152e-51	1	2.18623e-51	116	519					T	58145073	G	T	58145073	3	4	79	1	0	0	0	0	1	0	0	0	3150	991	35	3	664	3	CDK4	12	58145073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209	58145073	75706822	13489	23806											
MARCH9	92979	broad.mit.edu	37	chr12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggccatctccctgaCggtcatcgagaaggtccaga	13	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	178					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCTCCCTGACGGTCATCGAG	0.597																																						ENST00000266643.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(532-534)aCg>aTg		membrane-associated ring finger (C3HC4) 9							91	78	82					12																	58151910		2203	4300	6503	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58151910C>T	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.533C>T	12.37:g.58151910C>T	ENSP00000266643:p.Thr178Met					MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	p.T178M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	964	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		178					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.533C>T	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.60920	0.15;0.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.54060	0.733;0.741	T	0.76966	-0.2763	10	0.87932	D	0	.	18.1173	0.89561	0.0:1.0:0.0:0.0	.	65;178	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	M	178;65	ENSP00000266643:T178M;ENSP00000446758:T65M	ENSP00000266643:T178M	T	+	2	0	MARCH9	56438177	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.929000	0.70096	2.810000	0.96702	0.655000	0.94253	ACG		0.597	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		54	257	0	0	0	1	0	54	257					T	58151910	C	T	58151910	3	4	79	1	0	0	0	0	1	0	0	0	9349	536	19	1	543	1	MARCH9	12	58151910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	58151910	75699985	13490	23807											
AVIL	10677	broad.mit.edu	37	chr12	58197168	58197168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacatctaggatttcctgCtgaagtctgcaatatagtcc	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58197168C>A	ENST00000257861.3	-	15	2254	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	AVIL_ENST00000537081.1_Missense_Mutation_p.Q601H|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	608	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATTTCCTGCTGAAGTCTGC	0.438											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1801-1803)caG>caT		advillin							161	149	153					12																	58197168		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197168C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1824G>T	12.37:g.58197168C>A	ENSP00000257861:p.Gln608His		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.Q608H|TSFM_ENST00000548851.1_Intron	p.Q601H			O75366	AVIL_HUMAN			15	1802	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		608			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1803G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.42900	0.96;0.96	5.13	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.88031	2.925	0.47737	D	0.999508	D;D	0.67145	0.989;0.996	D;D	0.65233	0.914;0.933	T	0.66333	-0.5950	10	0.66056	D	0.02	-12.0731	7.8909	0.29677	0.0:0.6981:0.1633:0.1386	.	601;608	O75366-2;O75366	.;AVIL_HUMAN	H	601;608	ENSP00000443207:Q601H;ENSP00000257861:Q608H	ENSP00000257861:Q608H	Q	-	3	2	AVIL	56483435	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	3.164000	0.50770	1.123000	0.41961	-0.305000	0.09177	CAG		0.438	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		26	793	1	0	3.65163e-15	1	3.98403e-15	26	793					A	58197168	C	A	58197168	3	1	79	1	0	0	0	0	1	0	0	0	1228	796	28	3	655	3	AVIL	12	58197168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45258	58197168	75654727	13491	23808											
AVIL	10677	broad.mit.edu	37	chr12	58200264	58200264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgtcatttccatgaAtttggaagagtcttactgga	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	ENST00000257861.3	-	13	1980	c.1550T>C	c.(1549-1551)aTt>aCt	p.I517T	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000537081.1_Missense_Mutation_p.I510T|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	517	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATTTCCATGAATTTGGAAGAG	0.488																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1528-1530)aTt>aCt		advillin							145	134	138					12																	58200264		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58200264A>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1550T>C	12.37:g.58200264A>G	ENSP00000257861:p.Ile517Thr					AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.I517T|TSFM_ENST00000548851.1_Intron	p.I510T			O75366	AVIL_HUMAN			13	1528	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		517			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1529T>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559012	0.65538	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.20881	2.04;2.04	5.16	5.16	0.70880	.	0.173912	0.51477	D	0.000093	T	0.28466	0.0704	M	0.62088	1.915	0.54753	D	0.99998	P;P	0.45672	0.523;0.864	B;B	0.43950	0.356;0.437	T	0.06661	-1.0814	10	0.87932	D	0	-18.9385	14.0909	0.64990	1.0:0.0:0.0:0.0	.	510;517	O75366-2;O75366	.;AVIL_HUMAN	T	510;517	ENSP00000443207:I510T;ENSP00000257861:I517T	ENSP00000257861:I517T	I	-	2	0	AVIL	56486531	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.062000	0.93920	2.165000	0.68154	0.459000	0.35465	ATT		0.488	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		30	311	0	0	0	1	0	30	311					G	58200264	A	G	58200264	3	3	79	1	0	0	0	0	1	0	0	0	1228	101	4	4	937	4	AVIL	12	58200264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3096	58200264	75651631	13492	23809											
AVIL	10677	broad.mit.edu	37	chr12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccagcgctttagacatggCtgcctgtttttcagcctttg	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000257861.3	-	8	1352	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	308	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(901-903)Gcc>Tcc		advillin							165	145	152					12																	58203397		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58203397C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.922G>T	12.37:g.58203397C>A	ENSP00000257861:p.Ala308Ser					AVIL_ENST00000257861.3_Missense_Mutation_p.A308S	p.A301S			O75366	AVIL_HUMAN			8	900	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		308			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.901G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045982	0.93685	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	Gelsolin domain (1);	0.104999	0.64402	D	0.000005	T	0.71745	0.3376	M	0.74467	2.265	0.80722	D	1	P;P	0.50819	0.939;0.903	P;P	0.55999	0.721;0.789	T	0.75941	-0.3140	10	0.72032	D	0.01	-13.5395	17.0043	0.86388	0.0:1.0:0.0:0.0	.	301;308	O75366-2;O75366	.;AVIL_HUMAN	S	301;308	ENSP00000443207:A301S;ENSP00000257861:A308S	ENSP00000257861:A308S	A	-	1	0	AVIL	56489664	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.512000	0.81728	2.619000	0.88677	0.655000	0.94253	GCC		0.473	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		79	307	1	0	4.41824e-40	1	5.35239e-40	79	307					A	58203397	C	A	58203397	3	1	79	1	0	0	0	0	1	0	0	0	1228	797	28	3	1585	3	AVIL	12	58203397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133	58203397	75648498	13493	23810											
CTDSP2	10106	broad.mit.edu	37	chr12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccttgaagatgttacgtCcacgaggcttcttaggagag	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	34					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)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517																																						ENST00000398073.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(100-102)gGa>gAa		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							108	108	108					12																	58223343		1990	4171	6161	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223343C>T	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.101G>A	12.37:g.58223343C>T	ENSP00000381148:p.Gly34Glu					CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	p.G34E	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	404	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		34					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.101G>A	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567575	0.86439	.	.	ENSG00000175215	ENST00000398073;ENST00000548823	T;T	0.21932	2.38;1.98	4.68	4.68	0.58851	.	0.049788	0.85682	D	0.000000	T	0.31888	0.0811	L	0.34521	1.04	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.01	T	0.01858	-1.1259	10	0.07482	T	0.82	-16.9848	16.8584	0.86011	0.0:1.0:0.0:0.0	.	34;34	F8W1I1;O14595	.;CTDS2_HUMAN	E	34	ENSP00000381148:G34E;ENSP00000447046:G34E	ENSP00000381148:G34E	G	-	2	0	CTDSP2	56509610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.984000	0.63838	2.592000	0.87571	0.655000	0.94253	GGA		0.517	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		47	467	0	0	0	1	0	47	467					T	58223343	C	T	58223343	3	4	79	1	0	0	0	0	1	0	0	0	4015	855	30	2	742	2	CTDSP2	12	58223343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19946	58223343	75628552	13494	23811											
XRCC6BP1	91419	broad.mit.edu	37	chr12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaggctcctgaagacgctgGagacaagtaggagccatgac	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	61					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617																																						ENST00000300145.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						c.(181-183)Gag>Aag		XRCC6 binding protein 1							32	36	35					12																	58335665		1939	4144	6083	SO:0001583	missense	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58335665G>A	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.181G>A	12.37:g.58335665G>A	ENSP00000300145:p.Glu61Lys						p.E61K	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN			1	306	+			61					Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	c.181G>A	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138802	0.56936	.	.	ENSG00000166896	ENST00000300145	T	0.41758	0.99	4.84	-0.808	0.10868	Metallopeptidase, catalytic domain (1);	0.745417	0.13537	N	0.380492	T	0.19287	0.0463	N	0.11064	0.09	0.32488	N	0.54066	B	0.16603	0.018	B	0.18871	0.023	T	0.43294	-0.9400	10	0.02654	T	1	.	12.3052	0.54898	0.0685:0.5094:0.4221:0.0	.	61	Q9Y6H3	ATP23_HUMAN	K	61	ENSP00000300145:E61K	ENSP00000300145:E61K	E	+	1	0	XRCC6BP1	56621932	0.998000	0.40836	0.129000	0.21949	0.864000	0.49448	1.468000	0.35332	-0.253000	0.09514	0.655000	0.94253	GAG		0.617	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		30	122	0	0	0	1	0	30	122					A	58335665	G	A	58335665	3	1	79	1	0	0	0	0	1	0	0	0	17512	1175	41	2	183	2	XRCC6BP1	12	58335665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112322	58335665	75516230	13495	23812											
LRIG3	121227	broad.mit.edu	37	chr12	59277343	59277343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaatgcattgccttgTaaagacatgattgcgttgtc	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTGCCTTGTAAAGACATGA	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1273-1275)ttA>ttG		leucine-rich repeats and immunoglobulin-like domains 3							123	117	119					12																	59277343		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59277343T>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1275A>G	12.37:g.59277343T>C						LRIG3_ENST00000379141.4_Silent_p.L365L	p.L425L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		11	1561	-			425					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1275A>G	CCDS8960.1																																																																																				0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		47	268	0	0	0	1	0	47	268					C	59277343	T	C	59277343	2	2	79	1	0	0	0	0	0	0	0	1	8984	1635	57	4		4	LRIG3	12	59277343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	941678	59277343	74574552	13496	23813											
LRIG3	121227	broad.mit.edu	37	chr12	59283900	59283900	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacccaggttccattgatgtGactcggttgctgttgagata	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	179					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCATTGATGTGACTCGGTTGC	0.413			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(535-537)gtC>gtT		leucine-rich repeats and immunoglobulin-like domains 3							219	211	214					12																	59283900		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59283900G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.537C>T	12.37:g.59283900G>A						LRIG3_ENST00000379141.4_Silent_p.V119V	p.V179V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		5	823	-			179					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.537C>T	CCDS8960.1																																																																																				0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		190	783	0	0	0	1	0	190	783					A	59283900	G	A	59283900	2	1	79	1	0	0	0	0	0	0	0	1	8984	1277	45	2		2	LRIG3	12	59283900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6557	59283900	74567995	13497	23814											
LRIG3	121227	broad.mit.edu	37	chr12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatattgttgctgctaaGgtccaaagtttcaagggact	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	152					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCTGCTAAGGTCCAAAGTT	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(454-456)Ctt>Ttt		leucine-rich repeats and immunoglobulin-like domains 3							91	91	91					12																	59284508		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284508G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.454C>T	12.37:g.59284508G>A	ENSP00000326759:p.Leu152Phe					LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	p.L152F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	740	-			152					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.454C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678552	0.68042	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.30448	1.53;1.53;1.53	5.87	2.87	0.33458	.	0.000000	0.30085	N	0.010459	T	0.59348	0.2187	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61535	-0.7043	9	.	.	.	.	8.8768	0.35350	0.4056:0.0:0.5944:0.0	.	92;152	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	92;152;59	ENSP00000368436:L92F;ENSP00000326759:L152F;ENSP00000449109:L59F	.	L	-	1	0	LRIG3	57570775	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.359000	0.44142	0.388000	0.25054	-0.302000	0.09304	CTT		0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		46	159	0	0	0	1	0	46	159					A	59284508	G	A	59284508	3	1	79	1	0	0	0	0	1	0	0	0	8984	1000	35	2	2969	2	LRIG3	12	59284508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	59284508	74567387	13498	23815											
SLC16A7	9194	broad.mit.edu	37	chr12	60169243	60169243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccagttcttcttggCcctcctcttgcaggtaagaa	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G|SLC16A7_ENST00000552024.1_Silent_p.G389G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	389					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1165-1167)ggC>ggT		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						77	71	73					12																	60169243		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169243C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1167C>T	12.37:g.60169243C>T						SLC16A7_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G	p.G389G	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1331	+			389					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1167C>T	CCDS8961.1																																																																																				0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		48	300	0	0	0	1	0	48	300					T	60169243	C	T	60169243	2	4	79	1	0	0	0	0	0	0	0	1	14463	726	26	2		2	SLC16A7	12	60169243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	884735	60169243	73682652	13499	23816											
USP15	9958	broad.mit.edu	37	chr12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttattgatgaattggattAcatactgttgccaactgaag	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	89	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(265-267)tAc>tGc		ubiquitin specific peptidase 15							138	133	135					12																	62696619		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62696619A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.266A>G	12.37:g.62696619A>G	ENSP00000280377:p.Tyr89Cys					USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C	p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	3	324	+			89			DUSP.		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.266A>G	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.651365|4.651365	0.88056|0.88056	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	.|T;T;T	.|0.32272	.|1.47;1.6;1.46	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.|0.062437	.|0.64402	.|D	.|0.000003	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;1.0	T|T	0.71656|0.71656	-0.4527|-0.4527	5|9	.|.	.|.	.|.	-8.6905|-8.6905	15.9922|15.9922	0.80214|0.80214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|89;89;89;89;89	.|B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|.;.;UBP15_HUMAN;.;.	A|C	85|89;89;89;89;89;35	.|ENSP00000258123:Y89C;ENSP00000280377:Y89C;ENSP00000377264:Y89C	.|.	T|Y	+|+	1|2	0|0	USP15|USP15	60982886|60982886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.284000|9.284000	0.95882|0.95882	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	ACA|TAC		0.363	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		93	395	0	0	0	1	0	93	395					G	62696619	A	G	62696619	3	3	79	1	0	0	0	0	1	0	0	0	17100	391	14	4	276	4	USP15	12	62696619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2527376	62696619	71155276	13500	23817											
USP15	9958	broad.mit.edu	37	chr12	62775384	62775384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatagctaaatcttatgcCgaactgatcaagcaaatgtg	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000353364.3_Silent_p.A314A|USP15_ENST00000393654.3_Silent_p.A318A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	343	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTTATGCCGAACTGATCA	0.403																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1027-1029)gcC>gcT		ubiquitin specific peptidase 15							168	146	154					12																	62775384		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62775384C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1029C>T	12.37:g.62775384C>T						USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	p.A343A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	9	1087	+			343					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1029C>T	CCDS58251.1																																																																																				0.403	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		68	282	0	0	0	1	0	68	282					T	62775384	C	T	62775384	2	4	79	1	0	0	0	0	0	0	0	1	17100	639	23	1		1	USP15	12	62775384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78765	62775384	71076511	13501	23818											
USP15	9958	broad.mit.edu	37	chr12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatagaattaggaaaaaaCcatatatacaattaaaagat	5	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000353364.3_Missense_Mutation_p.P374S|USP15_ENST00000393654.3_Missense_Mutation_p.P378S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	403	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGAAAAAACCATATATACA	0.338																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1207-1209)Cca>Tca		ubiquitin specific peptidase 15							74	75	75					12																	62777738		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777738C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1207C>T	12.37:g.62777738C>T	ENSP00000280377:p.Pro403Ser					USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	p.P403S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1265	+			403					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1207C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270563	0.80469	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.29655	4.18;4.18;1.56	5.4	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055071	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.57081	-0.7872	9	.	.	.	-8.9265	15.6864	0.77415	0.1379:0.8621:0.0:0.0	.	403;374	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	374;403;378	ENSP00000258123:P374S;ENSP00000280377:P403S;ENSP00000377264:P378S	.	P	+	1	0	USP15	61064005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.493000	0.48517	0.655000	0.94253	CCA		0.338	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		50	266	0	0	0	1	0	50	266					T	62777738	C	T	62777738	3	4	79	1	0	0	0	0	1	0	0	0	17100	507	18	2	1154	2	USP15	12	62777738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2354	62777738	71074157	13502	23819											
MON2	23041	broad.mit.edu	37	chr12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaattcccacctgTcaaagaggtaagcttcaggt	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000393632.2	+	1	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCCACCTGTCAAAGAGGTA	0.542																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(103-105)gTc>gGc		MON2 homolog (S. cerevisiae)							64	65	65					12																	62861091		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62861091T>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.104T>G	12.37:g.62861091T>G	ENSP00000377252:p.Val35Gly					MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000393632.2_Missense_Mutation_p.V35G|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G	p.V35G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	1	495	+			35					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.104T>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	31	5.103451	0.94245	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66815	-0.23;-0.22;-0.23;-0.23;-0.22;-0.23;-0.2	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76575	0.961;0.983;0.983;0.988	T	0.81688	-0.0819	9	.	.	.	-9.4158	14.8857	0.70567	0.0:0.0:0.0:1.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	35	ENSP00000377252:V35G;ENSP00000377250:V35G;ENSP00000280379:V35G;ENSP00000447407:V35G;ENSP00000449215:V35G;ENSP00000377249:V35G;ENSP00000446635:V35G	.	V	+	2	0	MON2	61147358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	GTC		0.542	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		78	324	0	0	0	1	0	78	324					G	62861091	T	G	62861091	3	3	79	1	0	0	0	0	1	0	0	0	9741	1667	58	4	106	4	MON2	12	62861091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83353	62861091	70990804	13503	23820											
PPM1H	57460	broad.mit.edu	37	chr12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttctcggtaaagaagCgtgtggggggcgtgctgggg	18	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTAAAGAAGCGTGTGGGGGG	0.642																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(682-684)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1H							29	32	31					12																	63195669		1894	4092	5986	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195669C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.683G>A	12.37:g.63195669C>T	ENSP00000228705:p.Arg228His						p.R228H	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	983	-			228			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.683G>A	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295048	0.81025	.	.	ENSG00000111110	ENST00000228705	T	0.25579	1.79	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.51220	-0.8733	9	.	.	.	4.0024	17.2574	0.87061	0.0:1.0:0.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	H	228	ENSP00000228705:R228H	.	R	-	2	0	PPM1H	61481936	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.050000	0.76620	2.124000	0.65301	0.462000	0.41574	CGC		0.642	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		28	341	0	0	0	1	0	28	341					T	63195669	C	T	63195669	3	4	79	1	0	0	0	0	1	0	0	0	12388	768	27	1	893	1	PPM1H	12	63195669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334578	63195669	70656226	13504	23821											
AVPR1A	552	broad.mit.edu	37	chr12	63544452	63544452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtcaccgccagcacggcGatctccagtttggccagctc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	55					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(163-165)atC>atT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						44	38	40					12																	63544452		2191	4273	6464	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544452G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.165C>T	12.37:g.63544452G>A							p.I55I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	270	-			55						Silent	SNP	ENST00000299178.2	37	c.165C>T	CCDS8965.1																																																																																				0.697	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			58	272	0	0	0	1	0	58	272					A	63544452	G	A	63544452	2	1	79	1	0	0	0	0	0	0	0	1	1232	1048	37	1		1	AVPR1A	12	63544452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348783	63544452	70307443	13505	23822											
DPY19L2	283417	broad.mit.edu	37	chr12	64038261	64038261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaccaacataaaagcaaGcaggatctcccaatcctttg	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	ENST00000324472.4	-	6	908	c.725C>T	c.(724-726)gCt>gTt	p.A242V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	242					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAAGCAAGCAGGATCTCC	0.343																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(724-726)gCt>gTt		dpy-19-like 2 (C. elegans)							21	22	22					12																	64038261		2194	4272	6466	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64038261G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.725C>T	12.37:g.64038261G>A	ENSP00000315988:p.Ala242Val					RP11-415I12.3_ENST00000509615.2_RNA	p.A242V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	6	908	-			242					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.725C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750837	0.31046	.	.	ENSG00000177990	ENST00000324472	T	0.53206	0.63	2.36	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.40067	0.1102	L	0.47078	1.49	0.80722	D	1	P	0.37370	0.592	B	0.41174	0.349	T	0.16719	-1.0393	9	.	.	.	.	8.2359	0.31625	0.0:0.0:1.0:0.0	.	242	Q6NUT2	D19L2_HUMAN	V	242	ENSP00000315988:A242V	.	A	-	2	0	DPY19L2	62324528	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.025000	0.70864	1.318000	0.45170	0.194000	0.17425	GCT		0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		27	146	0	0	0	1	0	27	146					A	64038261	G	A	64038261	3	1	79	1	0	0	0	0	1	0	0	0	4757	971	34	2	1619	2	DPY19L2	12	64038261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493809	64038261	69813634	13506	23823											
SRGAP1	57522	broad.mit.edu	37	chr12	64456834	64456834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataatttagagcccaggagCgataagcagagattcatgga	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S|SRGAP1_ENST00000357825.3_Silent_p.S313S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	313	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCCCAGGAGCGATAAGCAGA	0.443																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(937-939)agC>agT		SLIT-ROBO Rho GTPase activating protein 1							138	126	130					12																	64456834		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64456834C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.939C>T	12.37:g.64456834C>T						RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.S313S|SRGAP1_ENST00000543397.1_Silent_p.S273S	p.S313S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	7	1463	+			313					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.939C>T	CCDS8967.1																																																																																				0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			71	303	0	0	0	1	0	71	303					T	64456834	C	T	64456834	2	4	79	1	0	0	0	0	0	0	0	1	15197	767	27	1		1	SRGAP1	12	64456834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418573	64456834	69395061	13507	23824											
SRGAP1	57522	broad.mit.edu	37	chr12	64474125	64474125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcaagccaaacatgaCttgctgcagaggaccctggg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	ENST00000355086.3	+	10	1907	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	461	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCAAACATGACTTGCTGCAGA	0.358																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1381-1383)gaC>gaA		SLIT-ROBO Rho GTPase activating protein 1							68	64	65					12																	64474125		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64474125C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1383C>A	12.37:g.64474125C>A	ENSP00000347198:p.Asp461Glu					RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	p.D461E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	10	1907	+			461					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1383C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822365	0.50739	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	3.12;2.79;2.2	4.32	3.44	0.39384	.	0.000000	0.36815	U	0.002397	T	0.20292	0.0488	N	0.17764	0.52	0.54753	D	0.999988	P;B;B	0.47545	0.897;0.168;0.429	P;B;B	0.54924	0.764;0.192;0.263	T	0.02464	-1.1155	9	.	.	.	.	8.0206	0.30406	0.0:0.7507:0.0:0.2493	.	461;421;461	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	E	461;461;421	ENSP00000347198:D461E;ENSP00000350480:D461E;ENSP00000437948:D421E	.	D	+	3	2	SRGAP1	62760392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.348000	0.33987	1.421000	0.47157	0.555000	0.69702	GAC		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			8	214	1	0	0.0477658	1	0.0478703	8	214					A	64474125	C	A	64474125	3	1	79	1	0	0	0	0	1	0	0	0	15197	564	20	3	1421	3	SRGAP1	12	64474125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17291	64474125	69377770	13508	23825											
SRGAP1	57522	broad.mit.edu	37	chr12	64485152	64485152	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggggatttggaaacattCgtcaaggtactggcaccagc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	511	F-BAR domain.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGGAAACATTCGTCAAGGTAC	0.478																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1531-1533)ttC>ttT		SLIT-ROBO Rho GTPase activating protein 1							80	82	81					12																	64485152		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64485152C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1533C>T	12.37:g.64485152C>T						RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron	p.F511F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	12	2057	+			511			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1533C>T	CCDS8967.1																																																																																				0.478	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			37	190	0	0	0	1	0	37	190					T	64485152	C	T	64485152	2	4	79	1	0	0	0	0	0	0	0	1	15197	883	31	1		1	SRGAP1	12	64485152	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11027	64485152	69366743	13509	23826											
SRGAP1	57522	broad.mit.edu	37	chr12	64521459	64521459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaagtcctcatccaaggAcatgaactccccgacagacc	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64521459A>G	ENST00000355086.3	+	20	3019	c.2495A>G	c.(2494-2496)gAc>gGc	p.D832G	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	832					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCATCCAAGGACATGAACTCC	0.557																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(2494-2496)gAc>gGc		SLIT-ROBO Rho GTPase activating protein 1							84	69	74					12																	64521459		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64521459A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2495A>G	12.37:g.64521459A>G	ENSP00000347198:p.Asp832Gly					SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	p.D832G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	20	3019	+			832					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.2495A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307441	0.40795	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19105	3.19;2.75;2.17	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.36815	U	0.002397	T	0.14356	0.0347	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.12837	0.002;0.008	T	0.10451	-1.0629	9	.	.	.	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	832;769	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	G	832;809;769	ENSP00000347198:D832G;ENSP00000350480:D809G;ENSP00000437948:D769G	.	D	+	2	0	SRGAP1	62807726	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.167000	0.77562	2.198000	0.70561	0.528000	0.53228	GAC		0.557	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	216	0	0	0	1	0	6	216					G	64521459	A	G	64521459	3	3	79	1	0	0	0	0	1	0	0	0	15197	275	10	4	2573	4	SRGAP1	12	64521459	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36307	64521459	69330436	13510	23827											
SRGAP1	57522	broad.mit.edu	37	chr12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgccacttccacggaatctCtcagccctttgcacaacgtt	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1009					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACGGAATCTCTCAGCCCTTT	0.547																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3025-3027)Ctc>Atc		SLIT-ROBO Rho GTPase activating protein 1							132	100	111					12																	64536219		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536219C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3025C>A	12.37:g.64536219C>A	ENSP00000347198:p.Leu1009Ile					SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	p.L1009I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3549	+			1009					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3025C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130120	0.37630	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34072	1.38;1.38;1.38	6.04	4.22	0.49857	.	0.269262	0.18965	U	0.126300	T	0.29817	0.0745	L	0.50333	1.59	0.47407	D	0.999413	P;B	0.37330	0.59;0.321	B;B	0.34590	0.186;0.086	T	0.03259	-1.1055	9	.	.	.	.	8.9068	0.35528	0.0:0.7426:0.1247:0.1326	.	1009;946	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	1009;986;946	ENSP00000347198:L1009I;ENSP00000350480:L986I;ENSP00000437948:L946I	.	L	+	1	0	SRGAP1	62822486	0.974000	0.33945	0.925000	0.36789	0.009000	0.06853	2.468000	0.45102	0.883000	0.36040	-0.302000	0.09304	CTC		0.547	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			11	336	1	0	1.49906e-05	1	1.53515e-05	11	336					A	64536219	C	A	64536219	3	1	79	1	0	0	0	0	1	0	0	0	15197	913	32	3	3111	3	SRGAP1	12	64536219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14760	64536219	69315676	13511	23828											
SRGAP1	57522	broad.mit.edu	37	chr12	64536230	64536230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaatctctcagccctttGcacaacgttgccctcaggag	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000543397.1_Silent_p.L949L|SRGAP1_ENST00000357825.3_Silent_p.L989L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1012					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGCCCTTTGCACAACGTTG	0.552																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3034-3036)ttG>ttA		SLIT-ROBO Rho GTPase activating protein 1							134	102	113					12																	64536230		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64536230G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3036G>A	12.37:g.64536230G>A						SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	p.L1012L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3560	+			1012					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.3036G>A	CCDS8967.1																																																																																				0.552	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			61	293	0	0	0	1	0	61	293					A	64536230	G	A	64536230	2	1	79	1	0	0	0	0	0	0	0	1	15197	1310	46	2		2	SRGAP1	12	64536230	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	64536230	69315665	13512	23829											
C12orf56	115749	broad.mit.edu	37	chr12	64664489	64664489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaatactggccacaaaAgtaatctagacaaggaaaat	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000333722.5_Silent_p.T370T|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	530										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCCACAAAAGTAATCTAGA	0.438																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1588-1590)acT>acC		chromosome 12 open reading frame 56							72	67	69					12																	64664489		1890	4129	6019	SO:0001819	synonymous_variant	115749							g.chr12:64664489A>G		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1590T>C	12.37:g.64664489A>G						C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA	p.T530T	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	12	2216	-			533						Silent	SNP	ENST00000543942.2	37	c.1590T>C																																																																																					0.438	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		40	158	0	0	0	1	0	40	158					G	64664489	A	G	64664489	2	3	79	1	0	0	0	0	0	0	0	1	1705	59	3	4		4	C12orf56	12	64664489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128259	64664489	69187406	13513	23830											
XPOT	11260	broad.mit.edu	37	chr12	64818836	64818836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattggcagactacacgGtttatggaagttgaagtagc	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	442					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1324-1326)cgG>cgA		exportin, tRNA							100	100	100					12																	64818836		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818836G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1326G>A	12.37:g.64818836G>A							p.R442R	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	13	1855	+			442					A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.1326G>A	CCDS31852.1																																																																																				0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		89	395	0	0	0	1	0	89	395					A	64818836	G	A	64818836	2	1	79	1	0	0	0	0	0	0	0	1	17504	1248	44	2		2	XPOT	12	64818836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154347	64818836	69033059	13514	23831											
XPOT	11260	broad.mit.edu	37	chr12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccagagagcaaagcCctgaggactggatttccctg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2884-2886)cCc>cAc		exportin, tRNA							136	129	132					12																	64841907		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64841907C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2885C>A	12.37:g.64841907C>A	ENSP00000327821:p.Pro962His						p.P962H	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	25	3414	+			962			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2885C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886625	0.72410	.	.	ENSG00000184575	ENST00000332707	T	0.26067	1.76	5.62	5.62	0.85841	.	0.107943	0.64402	D	0.000003	T	0.31071	0.0785	N	0.08118	0	0.47698	D	0.999495	D	0.63046	0.992	D	0.72338	0.977	T	0.20706	-1.0267	9	.	.	.	.	17.806	0.88601	0.0:1.0:0.0:0.0	.	962	O43592	XPOT_HUMAN	H	962	ENSP00000327821:P962H	.	P	+	2	0	XPOT	63128174	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.484000	0.60271	2.820000	0.97059	0.650000	0.86243	CCC		0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		71	344	1	0	2.47556e-37	1	2.97223e-37	71	344					A	64841907	C	A	64841907	3	1	79	1	0	0	0	0	1	0	0	0	17504	623	22	3	2979	3	XPOT	12	64841907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23071	64841907	69009988	13515	23832											
TBK1	29110	broad.mit.edu	37	chr12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaccatggatggtggccttCgcaacgttgactgtctttag	11	9	1	1	rs185524052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368													C|||	3	0.000599042	0.0	0.0	5008	,	,		14975	0.003		0.0	False		,,,				2504	0.0					ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(2170-2172)Cgc>Tgc		TANK-binding kinase 1							170	165	167					12																	64895141		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64895141C>T	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2170C>T	12.37:g.64895141C>T	ENSP00000329967:p.Arg724Cys						p.R724C	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	21	2509	+			724					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.2170C>T	CCDS8968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	19.42	3.823372	0.71143	.	.	ENSG00000183735	ENST00000331710	T	0.70986	-0.53	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.08118	0	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.64736	-0.6337	9	.	.	.	-4.5344	14.5605	0.68133	0.2533:0.7467:0.0:0.0	.	724	Q9UHD2	TBK1_HUMAN	C	724	ENSP00000329967:R724C	.	R	+	1	0	TBK1	63181408	0.259000	0.24043	1.000000	0.80357	0.979000	0.70002	0.370000	0.20433	2.873000	0.98535	0.563000	0.77884	CGC		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		94	469	0	0	0	1	0	94	469					T	64895141	C	T	64895141	3	4	79	1	0	0	0	0	1	0	0	0	15689	884	31	1	2248	1	TBK1	12	64895141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53234	64895141	68956754	13516	23833											
WIF1	11197	broad.mit.edu	37	chr12	65461485	65461485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcttacctttctcacaGtgaggtccgtggaacccatc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	208	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(622-624)caC>caT		WNT inhibitory factor 1							101	86	91					12																	65461485		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461485G>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.624C>T	12.37:g.65461485G>A							p.H208H	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	998	-			208			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.624C>T	CCDS8971.1																																																																																				0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			34	152	0	0	0	1	0	34	152					A	65461485	G	A	65461485	2	1	79	1	0	0	0	0	0	0	0	1	17420	1020	36	2		2	WIF1	12	65461485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566344	65461485	68390410	13517	23834											
WIF1	11197	broad.mit.edu	37	chr12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagatagcattttgagGtgtttggagaatggtgttgc	14	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(502-504)Cct>Act		WNT inhibitory factor 1							194	179	184					12																	65462580		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462580G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.502C>A	12.37:g.65462580G>T	ENSP00000286574:p.Pro168Thr						p.P168T	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	876	-			168			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.502C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888886	0.72524	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	T	168;106	ENSP00000286574:P168T;ENSP00000442063:P106T	.	P	-	1	0	WIF1	63748847	1.000000	0.71417	0.970000	0.41538	0.560000	0.35617	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			74	367	1	0	5.96624e-29	1	6.96048e-29	74	367					T	65462580	G	T	65462580	3	4	79	1	0	0	0	0	1	0	0	0	17420	1261	44	3	665	3	WIF1	12	65462580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1095	65462580	68389315	13518	23835											
LEMD3	23592	broad.mit.edu	37	chr12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgtctttttggtgtcGttttcgacgtgcttttgtta	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1867-1869)cGt>cAt		LEM domain containing 3							202	175	184					12																	65632541		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65632541G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1868G>A	12.37:g.65632541G>A	ENSP00000308369:p.Arg623His						p.R623H	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	6	1894	+			623					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1868G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	LEMD3	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT		0.353	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			58	266	0	0	0	1	0	58	266					A	65632541	G	A	65632541	3	1	79	1	0	0	0	0	1	0	0	0	8752	1145	40	1	1890	1	LEMD3	12	65632541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169961	65632541	68219354	13519	23836											
MSRB3	253827	broad.mit.edu	37	chr12	65702408	65702408	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaagagccagccagtaGcccttcgagcctgtgggctt	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65702408G>A	ENST00000355192.3	+	2	223				MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000308259.5_Missense_Mutation_p.A17T|MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3						protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CCAGCCAGTAGCCCTTCGAGC	0.502																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(49-51)Gcc>Acc		methionine sulfoxide reductase B3							130	115	120					12																	65702408		2203	4300	6503	SO:0001627	intron_variant	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65702408G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.98-18198G>A	12.37:g.65702408G>A						MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T|MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000538725.1_3'UTR	p.A17T	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	2	323	+			0					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.49G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231460	0.39399	.	.	ENSG00000174099	ENST00000308259;ENST00000535664;ENST00000538045;ENST00000535239	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.07	6.01	5.07	0.68467	.	.	.	.	.	T	0.46073	0.1374	N	0.25647	0.755	0.33937	D	0.642723	B	0.14012	0.009	B	0.12837	0.008	T	0.49661	-0.8916	8	.	.	.	.	9.4925	0.38969	0.0704:0.0:0.7859:0.1437	.	17	Q8IXL7-2	.	T	17	ENSP00000312274:A17T;ENSP00000441650:A17T;ENSP00000442620:A17T;ENSP00000445843:A17T	.	A	+	1	0	MSRB3	63988675	1.000000	0.71417	0.980000	0.43619	0.720000	0.41350	3.998000	0.57024	2.861000	0.98227	0.650000	0.86243	GCC		0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		72	360	0	0	0	1	0	72	360					A	65702408	G	A	65702408	1	1	79	0	1	0	0	0	0	0	0	0	9930	971	34	2		2	MSRB3	12	65702408	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69867	65702408	68149487	13520	23837											
MSRB3	253827	broad.mit.edu	37	chr12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttgatgatgggcctcGtccaactgggaaaagatact	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000355192.3	+	6	578	c.452G>A	c.(451-453)cGt>cAt	p.R151H	MSRB3_ENST00000308259.5_Missense_Mutation_p.R144H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	151					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(430-432)cGt>cAt		methionine sulfoxide reductase B3							165	149	154					12																	65856975		2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65856975G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.452G>A	12.37:g.65856975G>A	ENSP00000347324:p.Arg151His					MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H|MSRB3_ENST00000355192.3_Missense_Mutation_p.R151H	p.R144H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	705	+			151					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.431G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370903	0.95923	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.222920	0.44285	D	0.000472	D	0.86159	0.5866	M	0.62088	1.915	0.54753	D	0.999985	D;D	0.64830	0.994;0.975	D;P	0.63283	0.913;0.766	D	0.84050	0.0369	9	.	.	.	-6.5414	20.3325	0.98724	0.0:0.0:1.0:0.0	.	151;144	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	H	151;144;144;144	ENSP00000347324:R151H;ENSP00000312274:R144H;ENSP00000441650:R144H;ENSP00000445843:R144H	.	R	+	2	0	MSRB3	64143242	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.890000	0.99128	0.655000	0.94253	CGT		0.522	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		125	578	0	0	0	1	0	125	578					A	65856975	G	A	65856975	3	1	79	1	0	0	0	0	1	0	0	0	9930	1145	40	1	554	1	MSRB3	12	65856975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154567	65856975	67994920	13521	23838											
TMBIM4	51643	broad.mit.edu	37	chr12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagtcactgtagttaagaGaacctgcagagaaagaatgc	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000358230.3	-	2	259	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	47					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(139-141)Ctc>Ttc		transmembrane BAX inhibitor motif containing 4							80	76	77					12																	66547187		1820	4062	5882	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66547187G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.139C>T	12.37:g.66547187G>A	ENSP00000350965:p.Leu47Phe					TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F	p.L47F	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	2	259	-			47					Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.139C>T	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302088	0.40694	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.54279	0.72;0.72;0.72;0.72;0.58	5.46	5.46	0.80206	.	0.064425	0.64402	D	0.000009	T	0.54727	0.1876	L	0.61387	1.9	0.52099	D	0.999947	P;B;P;B;B	0.35844	0.524;0.185;0.524;0.087;0.179	B;B;B;B;B	0.42112	0.376;0.14;0.376;0.063;0.33	T	0.53034	-0.8495	9	.	.	.	-14.5531	12.2315	0.54490	0.0821:0.0:0.9179:0.0	.	47;94;47;16;47	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	47;47;47;94;47;47;93;16	ENSP00000451688:L47F;ENSP00000350965:L47F;ENSP00000286424:L94F;ENSP00000381114:L47F;ENSP00000441291:L16F	.	L	-	1	0	TMBIM4	64833454	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	2.312000	0.43726	2.548000	0.85928	0.655000	0.94253	CTC		0.308	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		43	231	0	0	0	1	0	43	231					A	66547187	G	A	66547187	3	1	79	1	0	0	0	0	1	0	0	0	16034	942	33	2	601	2	TMBIM4	12	66547187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	690212	66547187	67304708	13522	23839											
HELB	92797	broad.mit.edu	37	chr12	66700219	66700219	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactttaaatggatcataggGtcaggttctaaagagatgtt	10	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	234					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)			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)		GGATCATAGGGTCAGGTTCTA	0.363																																						ENST00000247815.4																			0				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						c.(700-702)ggG>ggT		helicase (DNA) B							116	120	118					12																	66700219		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:66700219G>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.702G>T	12.37:g.66700219G>T							p.G234G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	761	+			234					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.702G>T	CCDS8976.1																																																																																				0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			68	406	1	0	4.29146e-36	1	5.13238e-36	68	406					T	66700219	G	T	66700219	2	4	79	1	0	0	0	0	0	0	0	1	7075	1248	44	3		3	HELB	12	66700219	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153032	66700219	67151676	13523	23840											
HELB	92797	broad.mit.edu	37	chr12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaacatgcatgggcaagaActattcacacttttcaggta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					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)			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)		ATGGGCAAGAACTATTCACAC	0.343																																						ENST00000247815.4																			0				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						c.(2653-2655)Act>Gct		helicase (DNA) B							97	98	98					12																	66718889		2203	4300	6503	SO:0001583	missense	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.chr12:66718889A>G	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.2653A>G	12.37:g.66718889A>G	ENSP00000247815:p.Thr885Ala						p.T885A	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	11	2712	+			885					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2653A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631428	0.46944	.	.	ENSG00000127311	ENST00000247815	T	0.32023	1.47	5.42	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94101	3.495	0.41065	D	0.985403	P	0.38978	0.652	B	0.39706	0.307	T	0.60110	-0.7327	9	.	.	.	-24.8586	12.2805	0.54760	0.8733:0.0:0.0:0.1267	.	885	Q8NG08	HELB_HUMAN	A	885	ENSP00000247815:T885A	.	T	+	1	0	HELB	65005156	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.295000	0.78780	2.190000	0.69967	0.496000	0.49642	ACT		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			57	292	0	0	0	1	0	57	292					G	66718889	A	G	66718889	3	3	79	1	0	0	0	0	1	0	0	0	7075	43	2	4	2695	4	HELB	12	66718889	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18670	66718889	67133006	13524	23841											
GRIP1	23426	broad.mit.edu	37	chr12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggctttgtctggctggCggatttagtgtagggactct	16	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000398016.3	-	2	147	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T|GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTCTGGCTGGCGGATTTAGTG	0.443																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(79-81)Gcc>Acc		glutamate receptor interacting protein 1							104	107	106					12																	66990684		1895	4124	6019	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66990684C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.79G>A	12.37:g.66990684C>T	ENSP00000381098:p.Ala27Thr					GRIP1_ENST00000398016.3_Missense_Mutation_p.A27T|GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T	p.A27T			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	319	-			27					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.79G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467165	0.43839	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.48	5.83	3.91	0.45181	.	0.135447	0.48767	N	0.000168	T	0.09069	0.0224	N	0.08118	0	0.30312	N	0.788396	B;B	0.13594	0.007;0.008	B;B	0.14578	0.011;0.011	T	0.17471	-1.0368	9	.	.	.	-14.9658	6.7807	0.23643	0.174:0.7379:0.0:0.088	.	27;27	F5H4N6;Q9Y3R0-3	.;.	T	27;27;27;27;53	ENSP00000381098:A27T;ENSP00000352780:A27T;ENSP00000286445:A27T;ENSP00000446047:A27T;ENSP00000438921:A53T	.	A	-	1	0	GRIP1	65276951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.682000	0.37628	1.466000	0.48025	-0.145000	0.13849	GCC		0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			78	342	0	0	0	1	0	78	342					T	66990684	C	T	66990684	3	4	79	1	0	0	0	0	1	0	0	0	6817	768	27	1	3243	1	GRIP1	12	66990684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271795	66990684	66861211	13525	23842											
CAND1	55832	broad.mit.edu	37	chr12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagaacttcctccagcttCcagtggtaagcaagagcaca	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	121					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(361-363)tCc>tTc		cullin-associated and neddylation-dissociated 1							121	120	120					12																	67686551		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67686551C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.362C>T	12.37:g.67686551C>T	ENSP00000442318:p.Ser121Phe						p.S121F	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	3	799	+			121					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.362C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047431	0.93740	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.08634	3.07	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	T	0.01993	-1.1233	9	.	.	.	-5.5697	18.1081	0.89526	0.0:1.0:0.0:0.0	.	121	Q86VP6	CAND1_HUMAN	F	121	ENSP00000442318:S121F	.	S	+	2	0	CAND1	65972818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.260000	0.74910	0.655000	0.94253	TCC		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		112	519	0	0	0	1	0	112	519					T	67686551	C	T	67686551	3	4	79	1	0	0	0	0	1	0	0	0	2622	855	30	2	372	2	CAND1	12	67686551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	695867	67686551	66165344	13526	23843											
CAND1	55832	broad.mit.edu	37	chr12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctagactttttccaagctCtggttgtcactggaacaaat	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	762					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2284-2286)Ctg>Atg		cullin-associated and neddylation-dissociated 1							111	111	111					12																	67699732		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699732C>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2284C>A	12.37:g.67699732C>A	ENSP00000442318:p.Leu762Met						p.L762M	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2721	+			762					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2284C>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116458	0.37339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74106	-0.81;-0.81	5.48	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.069116	0.64402	D	0.000019	D	0.85274	0.5659	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	D	0.85583	0.1241	9	.	.	.	-5.4556	11.446	0.50123	0.0:0.7072:0.0:0.2928	.	594;762	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	M	762;762;302	ENSP00000442318:L762M;ENSP00000444089:L302M	.	L	+	1	2	CAND1	65985999	0.951000	0.32395	0.998000	0.56505	0.989000	0.77384	0.608000	0.24223	0.653000	0.30826	0.650000	0.86243	CTG		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		41	562	1	0	3.61848e-18	1	4.01023e-18	41	562					A	67699732	C	A	67699732	3	1	79	1	0	0	0	0	1	0	0	0	2622	912	32	3	2322	3	CAND1	12	67699732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13181	67699732	66152163	13527	23844											
IL26	55801	broad.mit.edu	37	chr12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttggtgaaggaagatTgcttgtgcttggcaatggca	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	25					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(73-75)cAa>cGa		interleukin 26							281	244	256					12																	68619463		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619463T>C	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.74A>G	12.37:g.68619463T>C	ENSP00000229134:p.Gln25Arg					IFNG-AS1_ENST00000536914.1_RNA	p.Q25R	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	138	-			25						Missense_Mutation	SNP	ENST00000229134.4	37	c.74A>G	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395487	0.11638	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	-3.12	0.05282	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.841659	0.10253	N	0.696898	T	0.45518	0.1346	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29305	-1.0016	9	.	.	.	.	8.342	0.32249	0.0:0.0805:0.5146:0.4049	.	25	Q9NPH9	IL26_HUMAN	R	25	ENSP00000229134:Q25R	.	Q	-	2	0	IL26	66905730	0.005000	0.15991	0.006000	0.13384	0.481000	0.33189	0.399000	0.20916	-0.619000	0.05648	0.379000	0.24179	CAA		0.473	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		149	626	0	0	0	1	0	149	626					C	68619463	T	C	68619463	3	2	79	1	0	0	0	0	1	0	0	0	7709	1812	63	4	461	4	IL26	12	68619463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	919731	68619463	65232432	13528	23845											
MDM1	56890	broad.mit.edu	37	chr12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaagccggcctcctttttCtgaggatacagaagaatctg	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000303145.7	-	10	1608	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	508					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(1522-1524)Gaa>Aaa		Mdm1 nuclear protein homolog (mouse)							70	76	74					12																	68707511		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68707511C>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1522G>A	12.37:g.68707511C>T	ENSP00000302537:p.Glu508Lys					MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	p.E508K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	10	1608	-			508					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.1522G>A	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131855	0.37630	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24723	1.84;1.84;1.84	4.98	4.09	0.47781	.	0.558347	0.17014	N	0.190395	T	0.20941	0.0504	L	0.34521	1.04	0.80722	D	1	B;B	0.27679	0.152;0.185	B;B	0.29785	0.107;0.093	T	0.03555	-1.1025	9	.	.	.	-6.0315	12.8595	0.57906	0.0:0.9204:0.0:0.0796	.	473;508	E7EPQ3;Q8TC05	.;MDM1_HUMAN	K	228;508;473	ENSP00000443815:E228K;ENSP00000302537:E508K;ENSP00000391006:E473K	.	E	-	1	0	MDM1	66993778	0.019000	0.18553	0.931000	0.37212	0.638000	0.38207	0.861000	0.27885	1.238000	0.43771	0.484000	0.47621	GAA		0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		66	249	0	0	0	1	0	66	249					T	68707511	C	T	68707511	3	4	79	1	0	0	0	0	1	0	0	0	9453	922	32	2	642	2	MDM1	12	68707511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	68707511	65144384	13529	23846											
RAP1B	5908	broad.mit.edu	37	chr12	69044201	69044202	+	Frame_Shift_Ins	INS	-	-	T													tgtacaatttgttcaaggaaINStttttgtagaaaaatacgat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69044201_69044202insT	ENST00000250559.9	+	3	310_311	c.79_80insT	c.(79-81)attfs	p.I27fs	RAP1B_ENST00000341355.5_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000543697.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000393436.5_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000540209.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000537460.1_Frame_Shift_Ins_p.I27fs	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	27	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGTTCAAGGAATTTTTGTAGAA	0.248																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(79-81)tttfs		RAP1B, member of RAS oncogene family																																				SO:0001589	frameshift_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69044201_69044202insT		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.84dupT	12.37:g.69044206_69044206dupT	ENSP00000250559:p.Ile27fs					RAP1B_ENST00000543697.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000393436.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000542145.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000537460.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000540209.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000341355.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000539091.1_Intron	p.F27fs	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	3	310_311	+	Breast(13;1.24e-05)		27					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Frame_Shift_Ins	INS	ENST00000250559.9	37	c.79_80insT	CCDS8984.1																																																																																				0.248	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		27	112						27	112	---	---	---	---	T	69044202	-	T	69044201	7	5	79	1	0	1	1	0	0	0	0	0	13086	101	4	0	85	0	RAP1B	12	69044201	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	336690	69044201	64807694	13530	23847											
RAP1B	5908	broad.mit.edu	37	chr12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcttttatgacctagtgCggcaaattaacagaaaaact	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	163					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(487-489)Cgg>Tgg		RAP1B, member of RAS oncogene family							104	107	106					12																	69050899		2203	4300	6503	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050899C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.487C>T	12.37:g.69050899C>T	ENSP00000250559:p.Arg163Trp					RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W	p.R163W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	7	718	+	Breast(13;1.24e-05)		163					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.487C>T	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666603	0.47677	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-1.27;-1.27;-0.65;-0.65;-0.65;-0.65;-0.66	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.98446	4.235	0.80722	D	1	B;D;B;B	0.60160	0.27;0.987;0.215;0.215	B;P;B;B	0.48571	0.014;0.582;0.085;0.069	D	0.91507	0.5224	9	.	.	.	.	11.7183	0.51666	0.1255:0.8074:0.0:0.0671	.	116;121;144;163	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	W	163;163;163;163;121;112;97;97;144;97;121;116;115	ENSP00000250559:R163W;ENSP00000377085:R163W;ENSP00000441275:R163W;ENSP00000439966:R163W;ENSP00000399986:R121W;ENSP00000444467:R112W;ENSP00000445090:R97W;ENSP00000368270:R97W;ENSP00000446318:R144W;ENSP00000443775:R97W;ENSP00000444830:R121W;ENSP00000440014:R116W;ENSP00000440708:R115W	.	R	+	1	2	RAP1B	67337166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.222000	0.32515	1.507000	0.48752	0.644000	0.83932	CGG		0.373	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		114	460	0	0	0	1	0	114	460					T	69050899	C	T	69050899	3	4	79	1	0	0	0	0	1	0	0	0	13086	759	27	1	509	1	RAP1B	12	69050899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6698	69050899	64800996	13531	23848											
NUP107	57122	broad.mit.edu	37	chr12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgtagttgagaatattcGaaagaaagataatggtgaat	10	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1930-1932)cGa>cAa		nucleoporin 107kDa							63	66	65					12																	69125432		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69125432G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1931G>A	12.37:g.69125432G>A	ENSP00000229179:p.Arg644Gln					NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q	p.R644Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		22	2263	+	Breast(13;6.25e-06)		644					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1931G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA		0.353	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		27	324	0	0	0	1	0	27	324					A	69125432	G	A	69125432	3	1	79	1	0	0	0	0	1	0	0	0	10795	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74533	69125432	64726463	13532	23849											
MDM2	4193	broad.mit.edu	37	chr12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtgaaagaagcagtaGcagtgaatctacagggacgc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000350057.5	+	6	560	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MDM2_ENST00000393412.3_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000299252.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	212	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418			A		"sarcoma, glioma, colorectal, other"																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(652-654)aGc>aTc		MDM2 oncogene, E3 ubiquitin protein ligase							185	173	177					12																	69222680		1920	4128	6048	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69222680G>T		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.560G>T	12.37:g.69222680G>T	ENSP00000266624:p.Ser187Ile					MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S187I|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000299252.4_Intron	p.S218I	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	955	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		212			ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.653G>T		.	.	.	.	.	.	.	.	.	.	G	15.30	2.792010	0.50102	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.53857	1.27;0.68;0.68;0.6;1.28	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.078405	0.85682	D	0.000000	T	0.65270	0.2675	M	0.61703	1.905	0.80722	D	1	P;P;P;D	0.55800	0.953;0.808;0.953;0.973	P;B;P;P	0.61533	0.89;0.261;0.89;0.89	T	0.65869	-0.6063	9	.	.	.	-0.0638	13.6451	0.62277	0.0763:0.0:0.9237:0.0	.	167;212;163;218	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	I	218;167;157;212;173;163;212;212;187	ENSP00000417281:S218I;ENSP00000258149:S157I;ENSP00000258148:S163I;ENSP00000444430:S212I;ENSP00000266624:S187I	.	S	+	2	0	MDM2	67508947	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.027000	0.64109	1.330000	0.45394	-0.373000	0.07131	AGC		0.418	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		60	608	1	0	1.77267e-40	1	2.14974e-40	60	608					T	69222680	G	T	69222680	3	4	79	1	0	0	0	0	1	0	0	0	9454	971	34	3	683	3	MDM2	12	69222680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97248	69222680	64629215	13533	23850											
CPSF6	11052	broad.mit.edu	37	chr12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtgctattgagacacTggtaactgcaatttctttaa	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	448					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1342-1344)cTg>cCg		cleavage and polyadenylation specific factor 6, 68kDa							135	135	135					12																	69653851		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653851T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1343T>C	12.37:g.69653851T>C	ENSP00000391774:p.Leu448Pro					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P	p.L448P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1453	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		448					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1343T>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482956	0.84747	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.993	D	0.93227	0.6614	9	.	.	.	-2.7417	16.3141	0.82909	0.0:0.0:0.0:1.0	.	196;485;448	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	P	448;375;485	ENSP00000391774:L448P;ENSP00000391437:L375P;ENSP00000266679:L485P	.	L	+	2	0	CPSF6	67940118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG		0.363	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		64	345	0	0	0	1	0	64	345					C	69653851	T	C	69653851	3	2	79	1	0	0	0	0	1	0	0	0	3838	1580	55	4	1373	4	CPSF6	12	69653851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	431171	69653851	64198044	13534	23851											
CCT2	10576	broad.mit.edu	37	chr12	69987317	69987317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttataattatcctgaacaGctctttggtgctgctggtgt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000299300.6	+	10	1094	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CCT2_ENST00000543146.2_Silent_p.Q255Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	302					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATCCTGAACAGCTCTTTGGTG	0.358																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(763-765)caG>caA		chaperonin containing TCP1, subunit 2 (beta)							107	101	103					12																	69987317		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69987317G>A	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.906G>A	12.37:g.69987317G>A						CCT2_ENST00000299300.6_Silent_p.Q302Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	p.Q255Q	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1247	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		302					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.765G>A	CCDS8991.1																																																																																				0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		16	347	0	0	0	1	0	16	347					A	69987317	G	A	69987317	2	1	79	1	0	0	0	0	0	0	0	1	2962	962	34	2		2	CCT2	12	69987317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333466	69987317	63864578	13535	23852											
CCT2	10576	broad.mit.edu	37	chr12	69990949	69990949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataggtggtgaaattgcCtctacctttgatcacccaga	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69990949C>T	ENST00000299300.6	+	11	1184	c.996C>T	c.(994-996)gcC>gcT	p.A332A	CCT2_ENST00000543146.2_Silent_p.A285A|CCT2_ENST00000544368.2_Silent_p.A332A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	332					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTGAAATTGCCTCTACCTTTG	0.373																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(853-855)gcC>gcT		chaperonin containing TCP1, subunit 2 (beta)							165	156	159					12																	69990949		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69990949C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.996C>T	12.37:g.69990949C>T						CCT2_ENST00000299300.6_Silent_p.A332A|CCT2_ENST00000544368.2_Silent_p.A332A	p.A285A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1337	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		332					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.855C>T	CCDS8991.1																																																																																				0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		17	491	0	0	0	1	0	17	491					T	69990949	C	T	69990949	2	4	79	1	0	0	0	0	0	0	0	1	2962	668	24	2		2	CCT2	12	69990949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	69990949	63860946	13536	23853											
CCT2	10576	broad.mit.edu	37	chr12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaactcattcactttTctggggttgcccttggtgag	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000299300.6	+	11	1275	c.1087T>G	c.(1087-1089)Tct>Gct	p.S363A	CCT2_ENST00000543146.2_Missense_Mutation_p.S316A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	363					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATTCACTTTTCTGGGGTTGC	0.408																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(946-948)Tct>Gct		chaperonin containing TCP1, subunit 2 (beta)							250	226	234					12																	69991040		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991040T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1087T>G	12.37:g.69991040T>G	ENSP00000299300:p.Ser363Ala					CCT2_ENST00000299300.6_Missense_Mutation_p.S363A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	p.S316A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1428	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		363					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.946T>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964249	0.92791	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67865	-0.29;-0.29;-0.29	6.16	6.16	0.99307	.	0.154543	0.64402	D	0.000012	D	0.85062	0.5611	M	0.93898	3.47	0.58432	D	0.999999	P;P	0.43094	0.799;0.69	P;P	0.57776	0.827;0.786	D	0.87706	0.2563	9	.	.	.	-28.6863	15.3771	0.74615	0.0:0.0:0.0:1.0	.	363;363	F5GWF6;P78371	.;TCPB_HUMAN	A	363;363;316	ENSP00000299300:S363A;ENSP00000441847:S363A;ENSP00000445471:S316A	.	S	+	1	0	CCT2	68277307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.692000	0.84203	2.367000	0.80283	0.528000	0.53228	TCT		0.408	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		146	682	0	0	0	1	0	146	682					G	69991040	T	G	69991040	3	3	79	1	0	0	0	0	1	0	0	0	2962	1783	62	4	1129	4	CCT2	12	69991040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91	69991040	63860855	13537	23854											
CCT2	10576	broad.mit.edu	37	chr12	69991508	69991508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctctttgtgttcttgCgcaaactgtaaaggactcta	9	8	3	1	rs201201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991508C>T	ENST00000299300.6	+	12	1381	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	CCT2_ENST00000543146.2_Missense_Mutation_p.A351V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	398					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGTGTTCTTGCGCAAACTGTA	0.333																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(1051-1053)gCg>gTg		chaperonin containing TCP1, subunit 2 (beta)		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	92	88	89		1052,1193	5.9	1	12		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCT2	NM_001198842.1,NM_006431.2	64,64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	351/489,398/536	69991508	3,13003	2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991508C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1193C>T	12.37:g.69991508C>T	ENSP00000299300:p.Ala398Val					CCT2_ENST00000299300.6_Missense_Mutation_p.A398V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	p.A351V	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		12	1534	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		398					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.1052C>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957341	0.53400	2.27E-4	2.33E-4	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.79141	-1.24;-1.24;-1.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	L	0.38175	1.15	0.80722	D	1	B;B	0.34103	0.437;0.26	B;B	0.16722	0.015;0.016	T	0.65071	-0.6257	9	.	.	.	-33.0295	20.2985	0.98592	0.0:1.0:0.0:0.0	.	398;398	F5GWF6;P78371	.;TCPB_HUMAN	V	398;398;351	ENSP00000299300:A398V;ENSP00000441847:A398V;ENSP00000445471:A351V	.	A	+	2	0	CCT2	68277775	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	GCG		0.333	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		10	362	0	0	0	1	0	10	362					T	69991508	C	T	69991508	3	4	79	1	0	0	0	0	1	0	0	0	2962	768	27	1	1239	1	CCT2	12	69991508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	69991508	63860387	13538	23855											
BEST3	144453	broad.mit.edu	37	chr12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcaatacctcaggtaccaGtggcattttgatgggggaag	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	499					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1495-1497)Ctg>Atg		bestrophin 3							132	132	132					12																	70049199		2076	4208	6284	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049199G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1495C>A	12.37:g.70049199G>T	ENSP00000332413:p.Leu499Met					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M	p.L499M	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1721	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		499					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1495C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153276	0.06585	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97906	-4.25;-4.6;-4.56	5.5	4.59	0.56863	.	0.763157	0.12006	N	0.508283	D	0.92714	0.7684	N	0.08118	0	0.19575	N	0.999961	B;B	0.14438	0.01;0.0	B;B	0.04013	0.001;0.001	D	0.86400	0.1741	10	0.46703	T	0.11	-2.0894	10.0521	0.42221	0.0:0.1495:0.6955:0.155	.	499;286	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	286;499;393	ENSP00000433213:L286M;ENSP00000332413:L499M;ENSP00000449548:L393M	ENSP00000332413:L499M	L	-	1	2	BEST3	68335466	0.014000	0.17966	0.021000	0.16686	0.017000	0.09413	1.913000	0.39956	1.267000	0.44247	0.563000	0.77884	CTG		0.547	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		82	702	1	0	2.27507e-24	1	2.6007e-24	82	702					T	70049199	G	T	70049199	3	4	79	1	0	0	0	0	1	0	0	0	1407	1020	36	3	515	3	BEST3	12	70049199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57691	70049199	63802696	13539	23856											
BEST3	144453	broad.mit.edu	37	chr12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatccagtaggtccctggCtgggctgaggtcatctcggg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	432					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1294-1296)Gcc>Tcc		bestrophin 3							94	99	98					12																	70049400		2014	4188	6202	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049400C>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1294G>T	12.37:g.70049400C>A	ENSP00000332413:p.Ala432Ser					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S	p.A432S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1520	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		432					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1294G>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338624	0.05243	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.19;-4.55;-4.51	5.63	-4.84	0.03151	.	0.900902	0.09621	N	0.777552	D	0.93996	0.8077	L	0.41236	1.265	0.18873	N	0.999989	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.82104	-0.0622	10	0.10902	T	0.67	-4.3232	14.9908	0.71387	0.0:0.22:0.0:0.78	.	432;219	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	219;432;326	ENSP00000433213:A219S;ENSP00000332413:A432S;ENSP00000449548:A326S	ENSP00000332413:A432S	A	-	1	0	BEST3	68335667	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	-1.100000	0.03339	-0.816000	0.04340	-0.140000	0.14226	GCC		0.597	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		42	417	1	0	5.59293e-11	1	5.94944e-11	42	417					A	70049400	C	A	70049400	3	1	79	1	0	0	0	0	1	0	0	0	1407	797	28	3	716	3	BEST3	12	70049400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	70049400	63802495	13540	23857											
RAB3IP	117177	broad.mit.edu	37	chr12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctctgtacctatccagGcaaatgcattagatgtttct	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000247833.7	+	2	539	c.163G>A	c.(163-165)Gca>Aca	p.A55T	RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000550536.1_Missense_Mutation_p.A71T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTATCCAGGCAAATGCATT	0.443																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(211-213)Gca>Aca		RAB3A interacting protein							168	152	157					12																	70149351		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149351G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.163G>A	12.37:g.70149351G>A	ENSP00000247833:p.Ala55Thr					RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T	p.A71T	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	668	+	Esophageal squamous(21;0.187)		71						Missense_Mutation	SNP	ENST00000247833.7	37	c.211G>A	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759935	0.69763	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.47869	0.84;0.83	5.93	5.0	0.66597	.	0.258959	0.44688	D	0.000438	T	0.36496	0.0969	N	0.24115	0.695	0.80722	D	1	P;P;P;P	0.38504	0.634;0.546;0.493;0.634	B;B;B;B	0.39258	0.295;0.133;0.295;0.295	T	0.11348	-1.0591	10	0.30854	T	0.27	.	15.3984	0.74816	0.0:0.2576:0.7424:0.0	.	71;71;55;55	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	T	55;55;55;55;71;71	ENSP00000247833:A55T;ENSP00000447300:A71T	ENSP00000247833:A55T	A	+	1	0	RAB3IP	68435618	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.265000	0.43311	2.814000	0.96858	0.655000	0.94253	GCA		0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		9	394	0	0	0	1	0	9	394					A	70149351	G	A	70149351	3	1	79	1	0	0	0	0	1	0	0	0	12988	1203	42	2	217	2	RAB3IP	12	70149351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99951	70149351	63702544	13541	23858											
RAB3IP	117177	broad.mit.edu	37	chr12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatgcattagatgttTctgaacttcctacacaaccc	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000247833.7	+	2	557	c.181T>C	c.(181-183)Tct>Cct	p.S61P	RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S77P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTAGATGTTTCTGAACTTCC	0.418																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(229-231)Tct>Cct		RAB3A interacting protein							157	143	148					12																	70149369		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149369T>C		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.181T>C	12.37:g.70149369T>C	ENSP00000247833:p.Ser61Pro					RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P	p.S77P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	686	+	Esophageal squamous(21;0.187)		77						Missense_Mutation	SNP	ENST00000247833.7	37	c.229T>C	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897894	0.72639	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.49139	0.8;0.79	5.93	5.93	0.95920	.	0.104008	0.64402	D	0.000003	T	0.40247	0.1109	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.53151	0.958;0.895;0.958;0.958	B;B;B;B	0.44044	0.439;0.422;0.277;0.439	T	0.39251	-0.9623	10	0.66056	D	0.02	.	12.843	0.57813	0.0:0.0:0.1359:0.8641	.	77;77;61;61	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	P	61;61;61;61;77;77	ENSP00000247833:S61P;ENSP00000447300:S77P	ENSP00000247833:S61P	S	+	1	0	RAB3IP	68435636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.271000	0.75665	0.533000	0.62120	TCT		0.418	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		72	317	0	0	0	1	0	72	317					C	70149369	T	C	70149369	3	2	79	1	0	0	0	0	1	0	0	0	12988	1783	62	4	235	4	RAB3IP	12	70149369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18	70149369	63702526	13542	23859											
RAB3IP	117177	broad.mit.edu	37	chr12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagaattaaattaggggActcaagcaactattattata	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000247833.7	+	9	1563	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D412G|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATTAGGGGACTCAAGCAAC	0.328																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1234-1236)gAc>gGc		RAB3A interacting protein							90	95	93					12																	70206614		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70206614A>G		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1187A>G	12.37:g.70206614A>G	ENSP00000247833:p.Asp396Gly					RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D396G	p.D412G	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1692	+	Esophageal squamous(21;0.187)		412						Missense_Mutation	SNP	ENST00000247833.7	37	c.1235A>G	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.664593|4.664593	0.88251|0.88251	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000526994	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|5	0.51188|.	T|.	0.08|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412|.	Q96QF0|.	RAB3I_HUMAN|.	G|A	396;190;412;190;190;103|128	ENSP00000247833:D396G;ENSP00000323349:D190G;ENSP00000447300:D412G;ENSP00000448773:D190G;ENSP00000448027:D190G;ENSP00000448102:D103G|.	ENSP00000447336:D37G|.	D|T	+|+	2|1	0|0	RAB3IP|RAB3IP	68492881|68492881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	GAC|ACT		0.328	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		74	318	0	0	0	1	0	74	318					G	70206614	A	G	70206614	3	3	79	1	0	0	0	0	1	0	0	0	12988	275	10	4	1269	4	RAB3IP	12	70206614	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57245	70206614	63645281	13543	23860											
CNOT2	4848	broad.mit.edu	37	chr12	70731292	70731292	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtaatgatgacagtaaatCtgtaagtaactgagaagtgt	10	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000418359.3	+	10	1350	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Splice_Site_p.S300Y	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	300					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.e9+1		CCR4-NOT transcription complex, subunit 2							95	93	94					12																	70731292		2203	4300	6503	SO:0001630	splice_region_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70731292C>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.900+1C>A	12.37:g.70731292C>A						CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Splice_Site_p.S300_splice	p.S300_splice	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1478	+	Renal(347;0.236)		300					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Splice_Site	SNP	ENST00000418359.3	37	c.900_splice	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779111	0.70107	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.94	5.94	0.96194	.	0.094664	0.85682	D	0.000000	T	0.69620	0.3131	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.944;0.898	P;B	0.44811	0.461;0.252	T	0.68522	-0.5386	10	0.39692	T	0.17	-7.0559	20.3501	0.98811	0.0:1.0:0.0:0.0	.	300;300	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	Y	300;300;300;163;239;291;300;110	ENSP00000450318:S300Y;ENSP00000229195:S300Y;ENSP00000412091:S300Y;ENSP00000448490:S163Y;ENSP00000447497:S239Y;ENSP00000449659:S291Y;ENSP00000449260:S300Y;ENSP00000448499:S110Y	ENSP00000229195:S300Y	S	+	2	0	CNOT2	69017559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.807000	0.96579	0.650000	0.86243	TCT		0.328	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		Missense_Mutation	36	290	1	0	1.836e-18	1	2.03801e-18	36	290					A	70731292	C	A	70731292	5	1	79	1	0	0	0	0	0	0	1	0	3628	927	32	3	929	3	CNOT2	12	70731292	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	524678	70731292	63120603	13544	23861											
KCNMB4	27345	broad.mit.edu	37	chr12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctgtggcgccgactGcaggggcacctcgcagtacc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	76					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GGCGCCGACTGCAGGGGCACC	0.637																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(226-228)tGc>tAc		potassium large conductance calcium-activated channel, subfamily M, beta member 4							64	62	63					12																	70760741		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760741G>A	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.227G>A	12.37:g.70760741G>A	ENSP00000258111:p.Cys76Tyr						p.C76Y	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	686	+	Renal(347;0.236)		76					Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.227G>A	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994370	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.13538	2.58	3.37	2.44	0.29823	.	0.055295	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74647	2.275	0.49130	D	0.999751	D	0.55385	0.971	P	0.52109	0.69	T	0.03910	-1.0993	10	0.66056	D	0.02	-5.2443	11.7488	0.51837	0.0:0.0:0.8218:0.1782	.	76	Q86W47	KCMB4_HUMAN	Y	76	ENSP00000258111:C76Y	ENSP00000258111:C76Y	C	+	2	0	KCNMB4	69047008	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.311000	0.89973	0.472000	0.27344	0.491000	0.48974	TGC		0.637	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		100	393	0	0	0	1	0	100	393					A	70760741	G	A	70760741	3	1	79	1	0	0	0	0	1	0	0	0	8107	1319	46	2	229	2	KCNMB4	12	70760741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29449	70760741	63091154	13545	23862											
PTPRB	5787	broad.mit.edu	37	chr12	70938438	70938438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtaaaagctcgaatgCtgattctgaaaagaaaaccg	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	ENST00000261266.5	-	20	4768	c.4739G>A	c.(4738-4740)aGc>aAc	p.S1580N	PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1798N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1580					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCGAATGCTGATTCTGAA	0.368																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5392-5394)aGc>aAc		protein tyrosine phosphatase, receptor type, B							81	76	77					12																	70938438		1812	4074	5886	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70938438C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4739G>A	12.37:g.70938438C>T	ENSP00000261266:p.Ser1580Asn					PTPRB_ENST00000261266.5_Missense_Mutation_p.S1580N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N	p.S1798N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		22	5437	-	Renal(347;0.236)		1580			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5393G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447575	0.84101	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.77358	0.55;0.55;0.55;-1.09;0.55;0.55	5.44	5.44	0.79542	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.993;0.997	D	0.87050	0.2146	10	0.59425	D	0.04	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	1490;1490;1798;1580;1710	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	N	1798;1490;1710;1490;1490;1580	ENSP00000334928:S1798N;ENSP00000393028:S1490N;ENSP00000448058:S1710N;ENSP00000438927:S1490N;ENSP00000447302:S1490N;ENSP00000261266:S1580N	ENSP00000261266:S1580N	S	-	2	0	PTPRB	69224705	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.810000	0.75216	2.563000	0.86464	0.585000	0.79938	AGC		0.368	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			22	106	0	0	0	1	0	22	106					T	70938438	C	T	70938438	3	4	79	1	0	0	0	0	1	0	0	0	12846	797	28	2	1306	2	PTPRB	12	70938438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177697	70938438	62913457	13546	23863											
PTPRB	5787	broad.mit.edu	37	chr12	70949649	70949649	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctccagggacacttaCggtctatcattgtgatagtg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000261266.5	-	17	4369		c.e17+1		PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGACACTTACGGTCTATCAT	0.522																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.e19+1		protein tyrosine phosphatase, receptor type, B							81	80	80					12																	70949649		2015	4179	6194	SO:0001630	splice_region_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949649C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4339+1G>A	12.37:g.70949649C>T						PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site		NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	5038	-	Renal(347;0.236)							B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	37		CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829620	0.91036	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69235916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.169000	0.77578	2.609000	0.88269	0.563000	0.77884	.		0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Intron	19	90	0	0	0	1	0	19	90					T	70949649	C	T	70949649	5	4	79	1	0	0	0	0	0	0	1	0	12846	550	19	1	1717	1	PTPRB	12	70949649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11211	70949649	62902246	13547	23864											
PTPRB	5787	broad.mit.edu	37	chr12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcaccactgacagtcTtgacgttgaattgataggat	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000261266.5	-	16	4027	c.3998A>C	c.(3997-3999)aAg>aCg	p.K1333T	PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1333	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGACAGTCTTGACGTTGAA	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4651-4653)aAg>aCg		protein tyrosine phosphatase, receptor type, B							234	229	231					12																	70953185		1963	4142	6105	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953185T>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3998A>C	12.37:g.70953185T>G	ENSP00000261266:p.Lys1333Thr					PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1333T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T	p.K1551T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4696	-	Renal(347;0.236)		1333					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4652A>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	9.706	1.155820	0.21454	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.84	-0.86	0.10680	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.323996	0.35151	N	0.003420	T	0.35566	0.0936	L	0.36672	1.1	0.28383	N	0.919434	B;B;B;B;B;P	0.39060	0.222;0.12;0.03;0.101;0.07;0.657	B;B;B;B;B;B	0.36922	0.173;0.173;0.049;0.171;0.18;0.236	T	0.34104	-0.9842	10	0.21540	T	0.41	.	10.3196	0.43758	0.0:0.5443:0.0:0.4557	.	1243;1243;1550;1551;1333;1463	P23467-2;F5H3G6;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	T	1551;1243;1463;1243;1243;1333;1550	ENSP00000334928:K1551T;ENSP00000393028:K1243T;ENSP00000448058:K1463T;ENSP00000438927:K1243T;ENSP00000447302:K1243T;ENSP00000261266:K1333T;ENSP00000448349:K1550T	ENSP00000261266:K1333T	K	-	2	0	PTPRB	69239452	0.999000	0.42202	0.994000	0.49952	0.639000	0.38242	0.880000	0.28159	-0.098000	0.12285	-0.290000	0.09829	AAG		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			192	708	0	0	0	1	0	192	708					G	70953185	T	G	70953185	3	3	79	1	0	0	0	0	1	0	0	0	12846	1609	56	4	2063	4	PTPRB	12	70953185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3536	70953185	62898710	13548	23865											
PTPRB	5787	broad.mit.edu	37	chr12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagtaagtgcatctcTgggcaaccactgcagctcaa	10	11	2	1	rs199666344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000261266.5	-	16	3927	c.3898A>G	c.(3898-3900)Aga>Gga	p.R1300G	PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1300	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTGCATCTCTGGGCAACCAC	0.478													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0					ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4552-4554)Aga>Gga		protein tyrosine phosphatase, receptor type, B		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,3972		0,0,1986	251	245	247		4552,3628,3628,3898	1	0	12		247	2,8334		0,2,4166	yes	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	125,125,125,125	0,2,6152	CC,CT,TT		0.024,0.0,0.0162	benign,benign,benign,benign	1518/2216,1210/1908,1210/1908,1300/1998	70953285	2,12306	1986	4168	6154	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953285T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3898A>G	12.37:g.70953285T>C	ENSP00000261266:p.Arg1300Gly					PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1300G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G	p.R1518G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4596	-	Renal(347;0.236)		1300			Fibronectin type-III 17.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4552A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	8.024	0.760358	0.15914	0.0	2.4E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;3.64	6.11	0.985	0.19779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464614	0.25789	N	0.028297	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.001;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.008;0.005;0.002;0.005;0.008;0.007	T	0.17899	-1.0354	10	0.20046	T	0.44	.	10.0031	0.41940	0.0:0.0624:0.4667:0.4709	.	1210;1210;1397;1517;1518;1300;1430	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1518;1210;1430;1210;1210;1300;1517;1397	ENSP00000334928:R1518G;ENSP00000393028:R1210G;ENSP00000448058:R1430G;ENSP00000438927:R1210G;ENSP00000447302:R1210G;ENSP00000261266:R1300G;ENSP00000448349:R1517G;ENSP00000446982:R1397G	ENSP00000261266:R1300G	R	-	1	2	PTPRB	69239552	0.000000	0.05858	0.015000	0.15790	0.331000	0.28603	0.325000	0.19628	-0.059000	0.13154	-0.316000	0.08728	AGA		0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			190	740	0	0	0	1	0	190	740					C	70953285	T	C	70953285	3	2	79	1	0	0	0	0	1	0	0	0	12846	1588	55	4	2163	4	PTPRB	12	70953285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100	70953285	62898610	13549	23866											
PTPRB	5787	broad.mit.edu	37	chr12	70974816	70974816	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctctacttcttacCtgttcttccctccacaacca	1	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000261266.5	-	8	1953	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	PTPRB_ENST00000550857.1_Splice_Site_p.V552F|PTPRB_ENST00000550358.1_Splice_Site_p.V860L|PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000451516.2_Splice_Site_p.V552F	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	642	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTTCTTACCTGTTCTTCCC	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.e10+1		protein tyrosine phosphatase, receptor type, B							77	76	76					12																	70974816		1904	4135	6039	SO:0001630	splice_region_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974816C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1924+1G>T	12.37:g.70974816C>A						PTPRB_ENST00000551525.1_Splice_Site_p.V859_splice|PTPRB_ENST00000261266.5_Splice_Site_p.V642_splice|PTPRB_ENST00000550358.1_Splice_Site_p.V860_splice|PTPRB_ENST00000538708.1_Splice_Site_p.V642_splice|PTPRB_ENST00000451516.2_Splice_Site_p.V552_splice|PTPRB_ENST00000550857.1_Splice_Site_p.V552_splice	p.V860_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		10	2622	-	Renal(347;0.236)		642			Fibronectin type-III 10.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	37	c.2578_splice	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043851|5.043851	0.93685|0.93685	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000550358;ENST00000544694	T;T;T;T;T;T;T|T	0.05447|0.04862	3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.54	5.86|5.86	5.86|5.86	0.93980|0.93980	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.260319|0.260319	0.38897|0.38897	N|N	0.001529|0.001529	T|T	0.22781|0.22781	0.0550|0.0550	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|P	0.89917|0.36733	0.998;0.998;0.997;0.997;1.0;0.997|0.567	D;D;D;D;D;D|P	0.78314|0.47915	0.983;0.983;0.969;0.976;0.991;0.929|0.561	T|T	0.00166|0.00166	-1.1966|-1.1966	9|9	.|.	.|.	.|.	.|.	20.1986|20.1986	0.98248|0.98248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;642;739;859;860;642|860	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467|F8VU56	.;.;.;.;.;PTPRB_HUMAN|.	F|L	860;552;642;552;642;859;739|860	ENSP00000334928:V860F;ENSP00000393028:V552F;ENSP00000438927:V642F;ENSP00000447302:V552F;ENSP00000261266:V642F;ENSP00000448349:V859F;ENSP00000446982:V739F|ENSP00000448058:V860L	.|.	V|V	-|-	1|1	0|0	PTPRB|PTPRB	69261083|69261083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.131000|7.131000	0.77243|0.77243	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	GTC|GTG		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Missense_Mutation	46	217	1	0	9.84934e-19	1	1.0948e-18	46	217					A	70974816	C	A	70974816	5	1	79	1	0	0	0	0	0	0	1	0	12846	695	24	3	4169	3	PTPRB	12	70974816	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21531	70974816	62877079	13550	23867											
PTPRB	5787	broad.mit.edu	37	chr12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggtcagtaaaagtgaattCtttggcatctttggagagtg	12	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000261266.5	-	7	1584	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	519	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGAATTCTTTGGCATCT	0.433																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2209-2211)Gaa>Aaa		protein tyrosine phosphatase, receptor type, B							139	130	133					12																	70980889		1906	4122	6028	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70980889C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1555G>A	12.37:g.70980889C>T	ENSP00000261266:p.Glu519Lys					PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E519K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K	p.E737K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		9	2253	-	Renal(347;0.236)		519			Fibronectin type-III 9.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2209G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109322	0.56398	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052530	0.64402	D	0.000001	T	0.73628	0.3611	M	0.79926	2.475	0.58432	D	0.999998	D;D;P;D;D;D;D	0.76494	0.996;0.996;0.921;0.989;0.995;0.996;0.999	D;D;P;D;D;D;D	0.70935	0.947;0.947;0.845;0.92;0.911;0.947;0.971	T	0.73717	-0.3895	10	0.35671	T	0.21	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	429;519;616;736;737;519;737	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	737;429;737;737;519;429;519;736;616	ENSP00000334928:E737K;ENSP00000393028:E429K;ENSP00000448058:E737K;ENSP00000438927:E519K;ENSP00000447302:E429K;ENSP00000261266:E519K;ENSP00000448349:E736K;ENSP00000446982:E616K	ENSP00000261266:E519K	E	-	1	0	PTPRB	69267156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	GAA		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			66	277	0	0	0	1	0	66	277					T	70980889	C	T	70980889	3	4	79	1	0	0	0	0	1	0	0	0	12846	922	32	2	4542	2	PTPRB	12	70980889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6073	70980889	62871006	13551	23868											
PTPRB	5787	broad.mit.edu	37	chr12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagttcaccagagacacagCtgacagtaacttgataaagt	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000261266.5	-	5	1105	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	359	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGACACAGCTGACAGTAAC	0.463																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1729-1731)aGc>aTc		protein tyrosine phosphatase, receptor type, B							99	97	98					12																	70986112		1963	4151	6114	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986112C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1076G>T	12.37:g.70986112C>A	ENSP00000261266:p.Ser359Ile					PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000261266.5_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I	p.S577I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1774	-	Renal(347;0.236)		359			Fibronectin type-III 7.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1730G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608439	0.46527	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.75	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549706	0.21306	N	0.076726	T	0.58452	0.2123	L	0.43646	1.37	0.20975	N	0.999811	P;P;P;D;P;P;P;P	0.63880	0.567;0.567;0.666;0.993;0.7;0.567;0.621;0.658	P;P;P;P;P;P;P;P	0.62740	0.481;0.481;0.772;0.906;0.586;0.481;0.493;0.578	T	0.51293	-0.8724	10	0.22109	T	0.4	.	12.6582	0.56799	0.0:0.7041:0.2297:0.0662	.	359;359;456;577;576;577;359;577	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	I	577;359;577;577;359;359;359;576;456	ENSP00000334928:S577I;ENSP00000393028:S359I;ENSP00000448058:S577I;ENSP00000438927:S359I;ENSP00000447302:S359I;ENSP00000261266:S359I;ENSP00000448349:S576I;ENSP00000446982:S456I	ENSP00000261266:S359I	S	-	2	0	PTPRB	69272379	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.376000	0.44292	0.771000	0.33359	0.655000	0.94253	AGC		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			69	336	1	0	1.63498e-16	1	1.79634e-16	69	336					A	70986112	C	A	70986112	3	1	79	1	0	0	0	0	1	0	0	0	12846	797	28	3	5029	3	PTPRB	12	70986112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5223	70986112	62865783	13552	23869											
PTPRB	5787	broad.mit.edu	37	chr12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tattgtaagaatccacatttCcaggaggtctttgccatttg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000261266.5	-	5	973	c.944G>T	c.(943-945)gGa>gTa	p.G315V	PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1597-1599)gGa>gTa		protein tyrosine phosphatase, receptor type, B							64	59	60					12																	70986244		1852	4099	5951	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986244C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.944G>T	12.37:g.70986244C>A	ENSP00000261266:p.Gly315Val					PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V	p.G533V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1642	-	Renal(347;0.236)		315			Fibronectin type-III 6.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1598G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589837	0.86851	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.29549	-1.0008	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533V;ENSP00000393028:G315V;ENSP00000448058:G533V;ENSP00000438927:G315V;ENSP00000447302:G315V;ENSP00000261266:G315V;ENSP00000448349:G532V;ENSP00000446982:G412V	ENSP00000261266:G315V	G	-	2	0	PTPRB	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			11	193	1	0	0.010729	1	0.0107869	11	193					A	70986244	C	A	70986244	3	1	79	1	0	0	0	0	1	0	0	0	12846	855	30	3	5161	3	PTPRB	12	70986244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	70986244	62865651	13553	23870											
PTPRB	5801	broad.mit.edu	37	chr12	71029672	71029672	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggctgagcgggaggggCcgcgggaagagttggagatg	22	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71029672C>A	ENST00000283228.2	-	0	3529				PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G77V|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCGGGAGGGGCCGCGGGAAGA	0.547																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(229-231)gGc>gTc		protein tyrosine phosphatase, receptor type, B							68	68	68					12																	71029672		2000	4164	6164	SO:0001628	intergenic_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029672C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029672C>A						PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V|PTPRB_ENST00000538174.2_5'UTR	p.G77V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	274	-	Renal(347;0.236)		0			Fibronectin type-III 1.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.230G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003628	0.19121	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30448	1.53;1.53;1.53	6.04	2.52	0.30459	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	0.999999	P;P;P;P	0.39352	0.669;0.617;0.617;0.617	B;B;B;B	0.43889	0.435;0.178;0.173;0.173	T	0.10314	-1.0635	9	0.72032	D	0.01	.	5.8923	0.18919	0.1244:0.3332:0.4654:0.077	.	77;76;77;77	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	V	77;77;77;76	ENSP00000334928:G77V;ENSP00000448058:G77V;ENSP00000448349:G76V	ENSP00000334928:G77V	G	-	2	0	PTPRB	69315939	0.062000	0.20869	0.080000	0.20451	0.021000	0.10359	1.654000	0.37334	1.553000	0.49476	-0.300000	0.09419	GGC		0.547	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		25	112	1	0	4.26978e-12	1	4.57227e-12	25	112					A	71029672	C	A	71029672	1	1	79	0	1	0	0	0	0	0	0	0	12846	739	26	3		3	PTPRB	12	71029672	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43428	71029672	62822223	13554	23871											
LGR5	8549	broad.mit.edu	37	chr12	71834062	71834062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaacctcagcgtcttcAcctcctacctgtaagtactt	4	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71834062A>G	ENST00000266674.5	+	1	513	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	68					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGCGTCTTCACCTCCTACCT	0.632																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(202-204)Acc>Gcc		leucine-rich repeat containing G protein-coupled receptor 5							67	62	64					12																	71834062		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71834062A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.202A>G	12.37:g.71834062A>G	ENSP00000266674:p.Thr68Ala					LGR5_ENST00000540815.2_Missense_Mutation_p.T68A|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A	p.T68A			O75473	LGR5_HUMAN			1	513	+			68					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.202A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574483	0.86542	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90069	3.59;-2.61;4.26	4.79	4.79	0.61399	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000035	D	0.86777	0.6014	L	0.28776	0.89	0.41768	D	0.98975	P;P	0.45078	0.802;0.85	P;P	0.49332	0.607;0.507	D	0.86747	0.1958	10	0.39692	T	0.17	.	14.1361	0.65289	1.0:0.0:0.0:0.0	.	68;68	O75473-2;O75473	.;LGR5_HUMAN	A	68	ENSP00000266674:T68A;ENSP00000443033:T68A;ENSP00000441035:T68A	ENSP00000266674:T68A	T	+	1	0	LGR5	70120329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.387000	0.79785	2.007000	0.58848	0.402000	0.26972	ACC		0.632	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		10	293	0	0	0	1	0	10	293					G	71834062	A	G	71834062	3	3	79	1	0	0	0	0	1	0	0	0	8789	159	6	4	204	4	LGR5	12	71834062	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	804390	71834062	62017833	13555	23872											
LGR5	8549	broad.mit.edu	37	chr12	71972657	71972657	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactcacttaaaattaacaGgaaatcatgccttacagagc	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71972657G>T	ENST00000266674.5	+	15	1665	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	452					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAAATTAACAGGAAATCATGC	0.363																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1354-1356)Gga>Tga		leucine-rich repeat containing G protein-coupled receptor 5							140	134	136					12																	71972657		2203	4300	6503	SO:0001587	stop_gained	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71972657G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1354G>T	12.37:g.71972657G>T	ENSP00000266674:p.Gly452*					LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*|LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*	p.G452*			O75473	LGR5_HUMAN			15	1665	+			452					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	37	c.1354G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681761	0.96774	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	.	.	.	X	452;452;380;428	.	ENSP00000266674:G452X	G	+	1	0	LGR5	70258924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.698000	0.91311	2.768000	0.95171	0.650000	0.86243	GGA		0.363	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		12	462	1	0	3.07112e-06	1	3.16074e-06	12	462					T	71972657	G	T	71972657	4	4	79	1	0	0	0	0	0	1	0	0	8789	1001	35	3	1412	3	LGR5	12	71972657	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138595	71972657	61879238	13556	23873											
LGR5	8549	broad.mit.edu	37	chr12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctctgtggcatttgtcCcatgtctctaattaatatgt	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2713-2715)Cca>Tca		leucine-rich repeat containing G protein-coupled receptor 5							101	97	99					12																	71978503		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978503C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2713C>T	12.37:g.71978503C>T	ENSP00000266674:p.Pro905Ser					LGR5_ENST00000536515.1_Missense_Mutation_p.P833S|LGR5_ENST00000540815.2_Missense_Mutation_p.P881S	p.P905S			O75473	LGR5_HUMAN			18	3024	+			905					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2713C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317289	0.40996	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.49	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.45216	0.1331	L	0.43923	1.385	0.45822	D	0.998691	B;B	0.33528	0.416;0.292	B;B	0.35278	0.199;0.098	T	0.28267	-1.0049	10	0.10636	T	0.68	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	S	905;833;881	ENSP00000266674:P905S;ENSP00000443033:P833S;ENSP00000441035:P881S	ENSP00000266674:P905S	P	+	1	0	LGR5	70264770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.815000	0.62634	2.833000	0.97629	0.585000	0.79938	CCA		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		93	495	0	0	0	1	0	93	495					T	71978503	C	T	71978503	3	4	79	1	0	0	0	0	1	0	0	0	8789	623	22	2	2783	2	LGR5	12	71978503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5846	71978503	61873392	13557	23874											
ZFC3H1	196441	broad.mit.edu	37	chr12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttctgtactatatcacatCtcatagccacccctaatgct	3	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1777					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5329-5331)aGa>aTa		zinc finger, C3H1-type containing							216	196	202					12																	72008644		1923	4150	6073	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72008644C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5330G>T	12.37:g.72008644C>A	ENSP00000368017:p.Arg1777Ile						p.R1777I	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			29	5688	-			1777					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.5330G>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036083	0.19590	.	.	ENSG00000133858	ENST00000378743	T	0.32272	1.46	5.2	0.144	0.14824	.	0.130606	0.53938	D	0.000060	T	0.15262	0.0368	N	0.19112	0.55	0.41689	D	0.989331	P	0.41748	0.761	B	0.35413	0.202	T	0.05146	-1.0903	10	0.38643	T	0.18	.	9.4812	0.38902	0.0:0.4191:0.0:0.5809	.	1777	O60293	ZC3H1_HUMAN	I	1777	ENSP00000368017:R1777I	ENSP00000368017:R1777I	R	-	2	0	ZFC3H1	70294911	1.000000	0.71417	0.921000	0.36526	0.258000	0.26162	1.667000	0.37471	0.036000	0.15547	-0.252000	0.11476	AGA		0.388	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		112	487	1	0	6.62378e-67	1	8.38613e-67	112	487					A	72008644	C	A	72008644	3	1	79	1	0	0	0	0	1	0	0	0	17686	913	32	3	667	3	ZFC3H1	12	72008644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30141	72008644	61843251	13558	23875											
ZFC3H1	196441	broad.mit.edu	37	chr12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttacatcttgaacagctTgccatggcattacaaatgat	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1564					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4690-4692)cAa>cGa		zinc finger, C3H1-type containing							99	89	92					12																	72017193		1848	4094	5942	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72017193T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4691A>G	12.37:g.72017193T>C	ENSP00000368017:p.Gln1564Arg						p.Q1564R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			24	5049	-			1564					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4691A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481682	0.12581	.	.	ENSG00000133858	ENST00000378743	T	0.32515	1.45	4.98	3.84	0.44239	.	0.152990	0.45606	D	0.000360	T	0.15046	0.0363	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09164	-1.0687	10	0.13853	T	0.58	.	5.883	0.18866	0.1462:0.0788:0.0:0.775	.	1564	O60293	ZC3H1_HUMAN	R	1564	ENSP00000368017:Q1564R	ENSP00000368017:Q1564R	Q	-	2	0	ZFC3H1	70303460	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.069000	0.50026	0.747000	0.32809	0.460000	0.39030	CAA		0.299	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		50	227	0	0	0	1	0	50	227					C	72017193	T	C	72017193	3	2	79	1	0	0	0	0	1	0	0	0	17686	1812	63	4	1326	4	ZFC3H1	12	72017193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8549	72017193	61834702	13559	23876											
ZFC3H1	196441	broad.mit.edu	37	chr12	72024411	72024411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttcttcattagtactTgtctctgcacaaccaatcaa	4	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1231					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3691-3693)acA>acG		zinc finger, C3H1-type containing							76	72	73					12																	72024411		1810	4077	5887	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72024411T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3693A>G	12.37:g.72024411T>C							p.T1231T	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			18	4051	-			1231					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.3693A>G	CCDS41813.1																																																																																				0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		34	170	0	0	0	1	0	34	170					C	72024411	T	C	72024411	2	2	79	1	0	0	0	0	0	0	0	1	17686	1799	63	4		4	ZFC3H1	12	72024411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7218	72024411	61827484	13560	23877											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagagatattttgttgttCctttgctttaagggcacggg	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2977-2979)Gaa>Aaa		zinc finger, C3H1-type containing							159	155	156					12																	72026135		1831	4078	5909	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72026135C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2977G>A	12.37:g.72026135C>T	ENSP00000368017:p.Glu993Lys						p.E993K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			15	3335	-			993					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2977G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484524	0.63962	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.87	5.87	0.94306	.	0.062950	0.64402	D	0.000007	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.02339	-1.1174	10	0.49607	T	0.09	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	993	O60293	ZC3H1_HUMAN	K	993	ENSP00000368017:E993K	ENSP00000368017:E993K	E	-	1	0	ZFC3H1	70312402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.705000	0.54823	2.779000	0.95612	0.585000	0.79938	GAA		0.378	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		186	910	0	0	0	1	0	186	910					T	72026135	C	T	72026135	3	4	79	1	0	0	0	0	1	0	0	0	17686	864	30	2	3076	2	ZFC3H1	12	72026135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1724	72026135	61825760	13561	23878											
ZFC3H1	196441	broad.mit.edu	37	chr12	72030364	72030364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatactgactattgatagaTtgcttcttggcacaggatgt	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72030364T>C	ENST00000378743.3	-	9	2364	c.2006A>G	c.(2005-2007)aAt>aGt	p.N669S	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	669					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATTGATAGATTGCTTCTTGG	0.418																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2005-2007)aAt>aGt		zinc finger, C3H1-type containing							167	156	160					12																	72030364		1886	4122	6008	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030364T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2006A>G	12.37:g.72030364T>C	ENSP00000368017:p.Asn669Ser						p.N669S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			9	2364	-			669					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2006A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759292	0.49468	.	.	ENSG00000133858	ENST00000378743	T	0.40225	1.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	T	0.05007	-1.0912	10	0.23302	T	0.38	.	11.0562	0.47920	0.0:0.0:0.1553:0.8447	.	669	O60293	ZC3H1_HUMAN	S	669	ENSP00000368017:N669S	ENSP00000368017:N669S	N	-	2	0	ZFC3H1	70316631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.695000	0.61767	1.943000	0.56356	0.383000	0.25322	AAT		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		13	474	0	0	0	1	0	13	474					C	72030364	T	C	72030364	3	2	79	1	0	0	0	0	1	0	0	0	17686	1493	52	4	4071	4	ZFC3H1	12	72030364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4229	72030364	61821531	13562	23879											
ZFC3H1	196441	broad.mit.edu	37	chr12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattcagagaaaaatggcGgttgcactggtgaaggagct	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	549	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1645-1647)cCg>cTg		zinc finger, C3H1-type containing							50	50	50					12																	72032277		1805	4069	5874	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72032277G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1646C>T	12.37:g.72032277G>A	ENSP00000368017:p.Pro549Leu						p.P549L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			7	2004	-			549			Pro-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1646C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101597	0.20632	.	.	ENSG00000133858	ENST00000378743	T	0.30448	1.53	5.39	3.52	0.40303	.	0.401401	0.25680	N	0.029017	T	0.17152	0.0412	N	0.12182	0.205	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.04191	-1.0970	10	0.32370	T	0.25	.	11.069	0.47993	0.0:0.0:0.6645:0.3355	.	549	O60293	ZC3H1_HUMAN	L	549	ENSP00000368017:P549L	ENSP00000368017:P549L	P	-	2	0	ZFC3H1	70318544	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.804000	0.38873	0.603000	0.29913	0.655000	0.94253	CCG		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		18	68	0	0	0	1	0	18	68					A	72032277	G	A	72032277	3	1	79	1	0	0	0	0	1	0	0	0	17686	1116	39	1	4439	1	ZFC3H1	12	72032277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1913	72032277	61819618	13563	23880											
ZFC3H1	196441	broad.mit.edu	37	chr12	72036294	72036294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataaatgcctcctccactatCagtaggttgcttatctaagg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72036294C>G	ENST00000378743.3	-	6	1907	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	517					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCCACTATCAGTAGGTTGC	0.383																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1549-1551)Gat>Cat		zinc finger, C3H1-type containing							171	155	160					12																	72036294		1857	4098	5955	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036294C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1549G>C	12.37:g.72036294C>G	ENSP00000368017:p.Asp517His						p.D517H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			6	1907	-			517					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1549G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748941	0.89753	.	.	ENSG00000133858	ENST00000378743	T	0.38077	1.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.19112	0.55	0.80722	D	1	P	0.47604	0.898	P	0.47786	0.557	T	0.23013	-1.0200	10	0.72032	D	0.01	.	19.6898	0.95996	0.0:1.0:0.0:0.0	.	517	O60293	ZC3H1_HUMAN	H	517	ENSP00000368017:D517H	ENSP00000368017:D517H	D	-	1	0	ZFC3H1	70322561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.669000	0.90835	0.655000	0.94253	GAT		0.383	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	497	0	0	0	1	0	8	497					G	72036294	C	G	72036294	3	3	79	1	0	0	0	0	1	0	0	0	17686	826	29	5	4540	5	ZFC3H1	12	72036294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4017	72036294	61815601	13564	23881											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttattatcgtcgtcacTgatttccccatcttcaagct	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000378743.3	-	1	440	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	28					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(82-84)Agt>Cgt		zinc finger, C3H1-type containing							90	105	100					12																	72057309		2090	4221	6311	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057309T>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.82A>C	12.37:g.72057309T>G	ENSP00000368017:p.Ser28Arg		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	p.S28R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	440	-			28					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.82A>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751945	0.49362	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35789	1.29	4.13	4.13	0.48395	.	0.070259	0.56097	D	0.000036	T	0.38931	0.1059	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59288	0.855;0.855;0.72	T	0.38222	-0.9671	10	0.87932	D	0	.	12.7363	0.57225	0.0:0.0:0.0:1.0	.	28;28;28	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	28	ENSP00000368017:S28R	ENSP00000368017:S28R	S	-	1	0	ZFC3H1	70343576	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.598000	0.54038	2.104000	0.64026	0.455000	0.32223	AGT		0.647	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		206	992	0	0	0	1	0	206	992					G	72057309	T	G	72057309	3	3	79	1	0	0	0	0	1	0	0	0	17686	1580	55	4	6027	4	ZFC3H1	12	72057309	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21015	72057309	61794586	13565	23882											
THAP2	83591	broad.mit.edu	37	chr12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcagaacacatgttaCcaactgccttaagcagtctt	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	192						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(574-576)Cca>Tca		THAP domain containing, apoptosis associated protein 2							88	81	83					12																	72070775		2203	4299	6502	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070775C>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.574C>T	12.37:g.72070775C>T	ENSP00000310796:p.Pro192Ser					RP11-293I14.2_ENST00000548802.1_Intron	p.P192S	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			3	2075	+			192					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.574C>T	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503363	0.85176	.	.	ENSG00000173451	ENST00000308086	D	0.97232	-4.3	6.04	6.04	0.98038	.	0.000000	0.44902	D	0.000415	D	0.95831	0.8643	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93516	0.6857	10	0.12766	T	0.61	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	192	Q9H0W7	THAP2_HUMAN	S	192	ENSP00000310796:P192S	ENSP00000310796:P192S	P	+	1	0	THAP2	70357042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.161000	0.50747	2.873000	0.98535	0.563000	0.77884	CCA		0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		55	250	0	0	0	1	0	55	250					T	72070775	C	T	72070775	3	4	79	1	0	0	0	0	1	0	0	0	15896	507	18	2	584	2	THAP2	12	72070775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13466	72070775	61781120	13566	23883											
TMEM19	55266	broad.mit.edu	37	chr12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttacgacctatttctcCgtggcgttggctgttttctg	9	10	2	0	rs373199946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	51						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(151-153)cCg>cTg		transmembrane protein 19		C	LEU/PRO	0,4406		0,0,2203	258	243	248		152	5.3	1	12		248	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM19	NM_018279.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	51/337	72083392	1,13005	2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72083392C>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.152C>T	12.37:g.72083392C>T	ENSP00000266673:p.Pro51Leu					RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	2	746	+		Breast(359;0.0889)	51					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.152C>T	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167020	0.94768	0.0	1.16E-4	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.78259	-0.2273	9	0.38643	T	0.18	-18.4485	19.0554	0.93062	0.0:1.0:0.0:0.0	.	51;51	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	L	51	.	ENSP00000266673:P51L	P	+	2	0	TMEM19	70369659	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	6.813000	0.75231	2.496000	0.84212	0.655000	0.94253	CCG		0.413	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		92	434	0	0	0	1	0	92	434					T	72083392	C	T	72083392	3	4	79	1	0	0	0	0	1	0	0	0	16165	652	23	1	158	1	TMEM19	12	72083392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12617	72083392	61768503	13567	23884											
TBC1D15	64786	broad.mit.edu	37	chr12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcagaaaaagatgttaacaGaacagatcgaacaaacaagt	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	417	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1249-1251)aGa>aAa		TBC1 domain family, member 15							154	135	142					12																	72300817		2201	4298	6499	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72300817G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1250G>A	12.37:g.72300817G>A	ENSP00000448182:p.Arg417Lys					TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K	p.R417K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			12	1314	+			417			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1250G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263479	0.95399	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.98466	4.24	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.99;0.992	D	0.85054	0.0930	10	0.87932	D	0	-16.0406	18.7218	0.91698	0.0:0.0:1.0:0.0	.	408;400;417	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	417;408;400;171	ENSP00000448182:R417K;ENSP00000318262:R408K;ENSP00000420678:R400K;ENSP00000376986:R171K	ENSP00000318262:R408K	R	+	2	0	TBC1D15	70587084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.416000	0.81992	0.650000	0.86243	AGA		0.318	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		22	92	0	0	0	1	0	22	92					A	72300817	G	A	72300817	3	1	79	1	0	0	0	0	1	0	0	0	15656	942	33	2	1420	2	TBC1D15	12	72300817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217425	72300817	61551078	13568	23885											
TPH2	121278	broad.mit.edu	37	chr12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactcctttcctccattggaGaattaaaggtatgaagctgt	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	386					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1156-1158)Gaa>Taa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						92	86	88					12																	72416266		2203	4300	6503	SO:0001587	stop_gained	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72416266G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1156G>T	12.37:g.72416266G>T	ENSP00000329093:p.Glu386*						p.E386*	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			9	1297	+			386					A6NGA4|Q14CB0	Nonsense_Mutation	SNP	ENST00000333850.3	37	c.1156G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518037	0.98332	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.98	5.98	0.97165	.	0.048507	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000329093:E386X	E	+	1	0	TPH2	70702533	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	GAA		0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		52	235	1	0	2.12129e-23	1	2.41242e-23	52	235					T	72416266	G	T	72416266	4	4	79	1	0	0	0	0	0	1	0	0	16455	943	33	3	1190	3	TPH2	12	72416266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115449	72416266	61435629	13569	23886											
TPH2	121278	broad.mit.edu	37	chr12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtatattttgcagcacGccctttctgacaaggcatgt	10	9	1	1	rs533065952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	390					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1168-1170)Gcc>Acc		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						104	111	108					12																	72425041		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425041G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1168G>A	12.37:g.72425041G>A	ENSP00000329093:p.Ala390Thr						p.A390T	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			10	1309	+			390					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1168G>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953843	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99758	-6.65	5.56	5.56	0.83823	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.93106	3.38	0.80722	D	1	D	0.53151	0.958	P	0.48627	0.584	D	0.98415	1.0574	10	0.72032	D	0.01	-17.6951	19.8892	0.96923	0.0:0.0:1.0:0.0	.	390	Q8IWU9	TPH2_HUMAN	T	390	ENSP00000329093:A390T	ENSP00000329093:A390T	A	+	1	0	TPH2	70711308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.929000	0.87595	2.777000	0.95525	0.591000	0.81541	GCC		0.423	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		80	395	0	0	0	1	0	80	395					A	72425041	G	A	72425041	3	1	79	1	0	0	0	0	1	0	0	0	16455	1087	38	1	1206	1	TPH2	12	72425041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8775	72425041	61426854	13570	23887											
TRHDE	29953	broad.mit.edu	37	chr12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctacaacgcgctcatcgaGaatgagctcctgggcttctt	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	242					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCTCATCGAGAATGAGCTCC	0.602																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(724-726)gaG>gaT		thyrotropin-releasing hormone degrading enzyme							52	55	54					12																	72667284		2202	4299	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667284G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.726G>T	12.37:g.72667284G>T	ENSP00000261180:p.Glu242Asp					TRHDE-AS1_ENST00000426250.3_RNA	p.E242D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	822	+			242					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.726G>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677174|1.677174	0.29783|0.29783	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04083|.	3.71|.	5.23|5.23	3.32|3.32	0.38043|0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41373|.	0.1156|.	N|N	0.16037|0.16037	0.36|0.36	0.42043|0.42043	D|D	0.991086|0.991086	D|.	0.59357|.	0.985|.	P|.	0.54590|.	0.756|.	T|.	0.36335|.	-0.9752|.	10|.	0.27082|0.52906	T|T	0.32|0.07	.|.	10.4009|10.4009	0.44229|0.44229	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	242|.	Q9UKU6|.	TRHDE_HUMAN|.	D|X	242|8	ENSP00000261180:E242D|.	ENSP00000261180:E242D|ENSP00000447822:E8X	E|E	+|+	3|1	2|0	TRHDE|TRHDE	70953551|70953551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.157000|0.157000	0.22087|0.22087	3.867000|3.867000	0.56047|0.56047	0.526000|0.526000	0.28541|0.28541	0.609000|0.609000	0.83330|0.83330	GAG|GAA		0.602	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		18	523	1	0	7.07596e-05	1	7.20791e-05	18	523					T	72667284	G	T	72667284	3	4	79	1	0	0	0	0	1	0	0	0	16532	933	33	3	728	3	TRHDE	12	72667284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242243	72667284	61184611	13571	23888											
TRHDE	29953	broad.mit.edu	37	chr12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatccggggactatgCtctccatataacaaagagat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	369					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGACTATGCTCTCCATATA	0.318																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1105-1107)gCt>gAt		thyrotropin-releasing hormone degrading enzyme							66	69	68					12																	72771827		2203	4298	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771827C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1106C>A	12.37:g.72771827C>A	ENSP00000261180:p.Ala369Asp						p.A369D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			3	1202	+			369					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1106C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423237	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.03553	3.89	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44651	-0.9314	10	0.87932	D	0	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	369	Q9UKU6	TRHDE_HUMAN	D	369	ENSP00000261180:A369D	ENSP00000261180:A369D	A	+	2	0	TRHDE	71058094	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	GCT		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		62	309	1	0	2.6711e-34	1	3.17551e-34	62	309					A	72771827	C	A	72771827	3	1	79	1	0	0	0	0	1	0	0	0	16532	797	28	3	1116	3	TRHDE	12	72771827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104543	72771827	61080068	13572	23889											
TRHDE	29953	broad.mit.edu	37	chr12	73014970	73014970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggatctcttgttcaagCatcctaccaacatgagtact	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:73014970C>T	ENST00000261180.4	+	14	2513	c.2417C>T	c.(2416-2418)gCa>gTa	p.A806V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	806					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTGTTCAAGCATCCTACCAA	0.343																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2416-2418)gCa>gTa		thyrotropin-releasing hormone degrading enzyme							117	105	109					12																	73014970		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73014970C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2417C>T	12.37:g.73014970C>T	ENSP00000261180:p.Ala806Val						p.A806V	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			14	2513	+			806					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2417C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386387	0.61956	.	.	ENSG00000072657	ENST00000261180	T	0.05319	3.46	5.64	5.64	0.86602	.	0.360841	0.29145	N	0.013013	T	0.05686	0.0149	N	0.11201	0.11	0.51482	D	0.999924	P	0.38300	0.626	B	0.37550	0.253	T	0.51076	-0.8751	10	0.44086	T	0.13	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	806	Q9UKU6	TRHDE_HUMAN	V	806	ENSP00000261180:A806V	ENSP00000261180:A806V	A	+	2	0	TRHDE	71301237	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.220000	0.72237	2.820000	0.97059	0.650000	0.86243	GCA		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		7	309	0	0	0	1	0	7	309					T	73014970	C	T	73014970	3	4	79	1	0	0	0	0	1	0	0	0	16532	710	25	2	2471	2	TRHDE	12	73014970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243143	73014970	60836925	13573	23890											
KCNC2	3747	broad.mit.edu	37	chr12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcatagtagatcatgGtagcaaatatcaaaactcct	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000549446.1	-	3	1873	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	398					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTAGATCATGGTAGCAAATAT	0.448																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1192-1194)aCc>aTc		potassium voltage-gated channel, Shaw-related subfamily, member 2							65	64	64					12																	75444592		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444592G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1193C>T	12.37:g.75444592G>A	ENSP00000449253:p.Thr398Ile					KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I	p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1873	-			398					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1193C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258306	0.80246	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	6.06	6.06	0.98353	Ion transport (1);	0.079838	0.53938	D	0.000052	D	0.98673	0.9555	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.99;1.0;0.947	D	0.99846	1.1066	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	398;398;398;398;398	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	398	ENSP00000448301:T398I;ENSP00000449941:T398I;ENSP00000449253:T398I;ENSP00000340121:T398I;ENSP00000298972:T398I;ENSP00000319877:T398I;ENSP00000438423:T398I;ENSP00000376966:T398I	ENSP00000298972:T398I	T	-	2	0	KCNC2	73730859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	ACC		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		51	224	0	0	0	1	0	51	224					A	75444592	G	A	75444592	3	1	79	1	0	0	0	0	1	0	0	0	8045	1261	44	2	801	2	KCNC2	12	75444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2429622	75444592	58407303	13574	23891											
KCNC2	3747	broad.mit.edu	37	chr12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatatcaaaactcctagaGccaggaaaattatcagcagc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000549446.1	-	3	1849	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	390					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AACTCCTAGAGCCAGGAAAAT	0.438																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1168-1170)gCt>gAt		potassium voltage-gated channel, Shaw-related subfamily, member 2							56	56	56					12																	75444616		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444616G>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1169C>A	12.37:g.75444616G>T	ENSP00000449253:p.Ala390Asp					KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D	p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1849	-			390					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1169C>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480886	0.84747	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99214	0.9727	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.958	D;D;D;D;P	0.87578	0.994;0.998;0.979;0.996;0.759	D	0.99308	1.0903	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	390;390;390;390;390	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	390	ENSP00000448301:A390D;ENSP00000449941:A390D;ENSP00000449253:A390D;ENSP00000340121:A390D;ENSP00000298972:A390D;ENSP00000319877:A390D;ENSP00000438423:A390D;ENSP00000376966:A390D	ENSP00000298972:A390D	A	-	2	0	KCNC2	73730883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	GCT		0.438	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		53	207	1	0	3.4597e-24	1	3.94879e-24	53	207					T	75444616	G	T	75444616	3	4	79	1	0	0	0	0	1	0	0	0	8045	971	34	3	825	3	KCNC2	12	75444616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	75444616	58407279	13575	23892											
KCNC2	3747	broad.mit.edu	37	chr12	75444879	75444879	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtttattgggtgaaaaAacaatacggactaaaaattc	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000549446.1	-	3	1586	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	302					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TGGGTGAAAAAACAATACGGA	0.388																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(904-906)gtT>gtG		potassium voltage-gated channel, Shaw-related subfamily, member 2							113	106	108					12																	75444879		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444879A>C	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.906T>G	12.37:g.75444879A>C						KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V	p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1586	-			302					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.906T>G	CCDS9007.1																																																																																				0.388	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		15	518	0	0	0	1	0	15	518					C	75444879	A	C	75444879	2	2	79	1	0	0	0	0	0	0	0	1	8045	1	1	4		4	KCNC2	12	75444879	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	263	75444879	58407016	13576	23893											
CAPS2	84698	broad.mit.edu	37	chr12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaattgtaagggattggTcatgagtgaaaaagaaccca	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000409445.3	-	11	1158	c.962A>G	c.(961-963)gAc>gGc	p.D321G	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.D89G|CAPS2_ENST00000409799.1_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409004.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	321							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(265-267)gAc>gGc		calcyphosine 2							88	86	87					12																	75692696		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692696T>C	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.962A>G	12.37:g.75692696T>C	ENSP00000386959:p.Asp321Gly					CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.D321G	p.D89G			Q9BXY5	CAYP2_HUMAN			10	867	-			321					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.266A>G	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881570	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.51574	0.7;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68621	0.959;0.827	T	0.74386	-0.3682	10	0.66056	D	0.02	-11.7444	15.8224	0.78667	0.0:0.0:0.0:1.0	.	89;321	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	G	321;89	ENSP00000386959:D321G;ENSP00000376963:D89G	ENSP00000376963:D89G	D	-	2	0	CAPS2	73978963	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.064000	0.71169	2.149000	0.67028	0.519000	0.50382	GAC		0.343	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			44	195	0	0	0	1	0	44	195					C	75692696	T	C	75692696	3	2	79	1	0	0	0	0	1	0	0	0	2645	1667	58	4	743	4	CAPS2	12	75692696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247817	75692696	58159199	13577	23894											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75763911	75763911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcacctcagcagacagcCtttaatccattcagcttagg	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000378695.4	+	6	774	c.684C>T	c.(682-684)gcC>gcT	p.A228A	GLIPR1L1_ENST00000548623.1_3'UTR|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.A219A			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	228					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313																																						ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(655-657)gcC>gcT		GLI pathogenesis-related 1 like 1							90	96	94					12																	75763911		2203	4300	6503	SO:0001819	synonymous_variant	256710					extracellular region		g.chr12:75763911C>T	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.684C>T	12.37:g.75763911C>T						GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Silent_p.A228A|CAPS2_ENST00000442339.2_Intron	p.A219A	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			5	703	+			228					Q96L06	Silent	SNP	ENST00000378695.4	37	c.657C>T																																																																																					0.313	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		47	224	0	0	0	1	0	47	224					T	75763911	C	T	75763911	2	4	79	1	0	0	0	0	0	0	0	1	6471	668	24	2		2	GLIPR1L1	12	75763911	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71215	75763911	58087984	13578	23895											
GLIPR1	11010	broad.mit.edu	37	chr12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgccatcacaaactgGtatgacgaaatccaggacta	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	117	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(349-351)tgG>tgA		GLI pathogenesis-related 1							111	98	102					12																	75875790		2203	4300	6503	SO:0001587	stop_gained	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875790G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.351G>A	12.37:g.75875790G>A	ENSP00000266659:p.Trp117*						p.W117*	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			2	552	+			117					A7YET6|F8VUC2|Q15409|Q969K2	Nonsense_Mutation	SNP	ENST00000266659.3	37	c.351G>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530799	0.64860	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000266659:W117X	W	+	3	0	GLIPR1	74162057	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	TGG		0.468	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		95	437	0	0	0	1	0	95	437					A	75875790	G	A	75875790	4	1	79	1	0	0	0	0	0	1	0	0	6470	1270	44	2	357	2	GLIPR1	12	75875790	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111879	75875790	57976105	13579	23896											
NAP1L1	4673	broad.mit.edu	37	chr12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcactctgctgggttttGatccttctgttaaaggaaaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	383					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(1147-1149)Caa>Taa		nucleosome assembly protein 1-like 1							192	162	172					12																	76442238		2203	4300	6503	SO:0001587	stop_gained	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76442238G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1147C>T	12.37:g.76442238G>A	ENSP00000261182:p.Gln383*					NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*	p.Q383*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			15	1633	-		Colorectal(145;0.09)	383					B3KNT8	Nonsense_Mutation	SNP	ENST00000261182.8	37	c.1147C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613130	0.97705	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	.	.	.	5.75	5.75	0.90469	.	0.602068	0.18452	N	0.140818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	383;377;383;315;320;200;341	.	ENSP00000261182:Q383X	Q	-	1	0	NAP1L1	74728505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.480000	0.73604	2.717000	0.92951	0.585000	0.79938	CAA		0.388	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		106	412	0	0	0	1	0	106	412					A	76442238	G	A	76442238	4	1	79	1	0	0	0	0	0	1	0	0	10197	1299	45	2	32	2	NAP1L1	12	76442238	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566448	76442238	57409657	13580	23897											
BBS10	79738	broad.mit.edu	37	chr12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaattgttcttgagtAatggttcataataatcagtt	9	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	540					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(1618-1620)tTa>tCa		Bardet-Biedl syndrome 10							127	123	124					12																	76740146		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740146A>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1619T>C	12.37:g.76740146A>G	ENSP00000376946:p.Leu540Ser						p.L540S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1702	-			540					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1619T>C	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.062276	0.00386	.	.	ENSG00000179941	ENST00000393262	D	0.85861	-2.04	4.69	0.647	0.17796	.	1.854630	0.02745	N	0.116791	T	0.72534	0.3472	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.54833	-0.8234	10	0.21540	T	0.41	0.4892	2.1329	0.03754	0.4868:0.2422:0.0772:0.1938	.	540	Q8TAM1	BBS10_HUMAN	S	540	ENSP00000376946:L540S	ENSP00000376946:L540S	L	-	2	0	BBS10	75264277	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	0.023000	0.15187	0.533000	0.62120	TTA		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		98	397	0	0	0	1	0	98	397					G	76740146	A	G	76740146	3	3	79	1	0	0	0	0	1	0	0	0	1337	372	13	4	556	4	BBS10	12	76740146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	297908	76740146	57111749	13581	23898											
BBS10	79738	broad.mit.edu	37	chr12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatctggtgcttgataActttctccactgttcttata	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	454					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(1360-1362)agT>agG		Bardet-Biedl syndrome 10							84	89	88					12																	76740403		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740403A>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1362T>G	12.37:g.76740403A>C	ENSP00000376946:p.Ser454Arg						p.S454R	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1445	-			454					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1362T>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	1.011	-0.688023	0.03328	.	.	ENSG00000179941	ENST00000393262	D	0.85955	-2.05	4.68	2.25	0.28309	.	0.440664	0.21561	N	0.072570	T	0.78585	0.4306	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.67074	-0.5762	10	0.46703	T	0.11	-1.8535	7.4204	0.27069	0.8247:0.0:0.1753:0.0	.	454	Q8TAM1	BBS10_HUMAN	R	454	ENSP00000376946:S454R	ENSP00000376946:S454R	S	-	3	2	BBS10	75264534	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.316000	0.19469	0.373000	0.24621	0.533000	0.62120	AGT		0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		92	417	0	0	0	1	0	92	417					C	76740403	A	C	76740403	3	2	79	1	0	0	0	0	1	0	0	0	1337	40	2	4	813	4	BBS10	12	76740403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257	76740403	57111492	13582	23899											
BBS10	79738	broad.mit.edu	37	chr12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccacctgcaacgccGccttcacagaccctgcagcg	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	13					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(37-39)gCg>gTg		Bardet-Biedl syndrome 10							12	14	14					12																	76742101		2018	4170	6188	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76742101G>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.38C>T	12.37:g.76742101G>A	ENSP00000376946:p.Ala13Val		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.A13V	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			1	121	-			13					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.38C>T	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206551	0.39003	.	.	ENSG00000179941	ENST00000393262	D	0.90004	-2.6	5.23	-2.25	0.06888	.	0.695765	0.11678	U	0.540041	T	0.72700	0.3493	N	0.12746	0.255	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.57516	-0.7798	10	0.24483	T	0.36	0.1479	4.4878	0.11799	0.4616:0.0:0.2864:0.252	.	13	Q8TAM1	BBS10_HUMAN	V	13	ENSP00000376946:A13V	ENSP00000376946:A13V	A	-	2	0	BBS10	75266232	0.000000	0.05858	0.059000	0.19551	0.658000	0.38924	-2.093000	0.01353	-0.365000	0.08076	0.561000	0.74099	GCG		0.612	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		18	69	0	0	0	1	0	18	69					A	76742101	G	A	76742101	3	1	79	1	0	0	0	0	1	0	0	0	1337	1087	38	1	2141	1	BBS10	12	76742101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1698	76742101	57109794	13583	23900											
OSBPL8	114882	broad.mit.edu	37	chr12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaaatgatgaagtaGtctttttgttgcagaaaata	11	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	870					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.D870E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328																																						ENST00000261183.3																			1	Substitution - Missense(1)	p.D870E(1)	breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2608-2610)gaC>gaA		oxysterol binding protein-like 8							90	92	91					12																	76749729		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76749729G>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2610C>A	12.37:g.76749729G>T	ENSP00000261183:p.Asp870Glu					OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E	p.D870E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			24	3089	-			870					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2610C>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578119	0.28180	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.29142	1.6;1.58;1.6	6.06	4.2	0.49525	.	2.308210	0.00932	N	0.002729	T	0.23492	0.0568	N	0.24115	0.695	0.37192	D	0.903997	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-8.2239	11.7761	0.51987	0.064:0.0:0.8122:0.1238	.	870	Q9BZF1	OSBL8_HUMAN	E	828;870;855;828	ENSP00000376939:D828E;ENSP00000261183:D870E;ENSP00000376940:D828E	ENSP00000261183:D870E	D	-	3	2	OSBPL8	75273860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	0.856000	0.35383	0.655000	0.94253	GAC		0.328	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		34	198	1	0	4.65686e-17	1	5.13078e-17	34	198					T	76749729	G	T	76749729	3	4	79	1	0	0	0	0	1	0	0	0	11325	1020	36	3	63	3	OSBPL8	12	76749729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7628	76749729	57102166	13584	23901											
OSBPL8	114882	broad.mit.edu	37	chr12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggctcaacaggctcagGttcgatatatgagtcatctt	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	368					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1102-1104)Cct>Tct		oxysterol binding protein-like 8							256	217	230					12																	76784265		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76784265G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1102C>T	12.37:g.76784265G>A	ENSP00000261183:p.Pro368Ser					OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S|OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S	p.P368S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			11	1581	-			368					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.1102C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306712	0.23736	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.41758	1.55;1.54;1.55;0.99;1.0	5.48	4.59	0.56863	.	0.181563	0.49305	D	0.000143	T	0.24470	0.0593	N	0.08118	0	0.49582	D	0.999806	B;B	0.22851	0.009;0.076	B;B	0.13407	0.009;0.008	T	0.03231	-1.1058	10	0.25106	T	0.35	-15.2772	15.7765	0.78224	0.0:0.0:0.8627:0.1373	.	343;368	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	326;368;353;326;368;368;343	ENSP00000376939:P326S;ENSP00000261183:P368S;ENSP00000376940:P326S;ENSP00000450238:P368S;ENSP00000447893:P343S	ENSP00000261183:P368S	P	-	1	0	OSBPL8	75308396	1.000000	0.71417	0.979000	0.43373	0.615000	0.37417	2.702000	0.47102	1.309000	0.44985	-0.158000	0.13435	CCT		0.393	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		107	435	0	0	0	1	0	107	435					A	76784265	G	A	76784265	3	1	79	1	0	0	0	0	1	0	0	0	11325	1261	44	2	1623	2	OSBPL8	12	76784265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34536	76784265	57067630	13585	23902											
ZDHHC17	23390	broad.mit.edu	37	chr12	77208931	77208931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttactttatcaggatgtAgatatgatggatcagaatgg	10	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77208931A>G	ENST00000426126.2	+	6	1198	c.549A>G	c.(547-549)gtA>gtG	p.V183V	ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	183					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATCAGGATGTAGATATGATGG	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(547-549)gtA>gtG		zinc finger, DHHC-type containing 17							42	40	41					12																	77208931		1810	4059	5869	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77208931A>G	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.549A>G	12.37:g.77208931A>G						ZDHHC17_ENST00000334822.5_Silent_p.V183V|ZDHHC17_ENST00000359019.4_Silent_p.V133V	p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			6	1198	+			183					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.549A>G	CCDS44946.1																																																																																				0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	34	0	0	0	1	0	3	34					G	77208931	A	G	77208931	2	3	79	1	0	0	0	0	0	0	0	1	17660	407	15	4		4	ZDHHC17	12	77208931	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	424666	77208931	56642964	13586	23903											
ZDHHC17	23390	broad.mit.edu	37	chr12	77239492	77239492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgcctattaacagataCgaaaaccggtgaggtccaaa	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	ENST00000426126.2	+	13	1982	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	445					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAACAGATACGAAAACCGGT	0.338																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1333-1335)Cga>Tga		zinc finger, DHHC-type containing 17							153	148	150					12																	77239492		1848	4087	5935	SO:0001587	stop_gained	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239492C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1333C>T	12.37:g.77239492C>T	ENSP00000403397:p.Arg445*					ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*|ZDHHC17_ENST00000550789.1_3'UTR	p.R445*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			13	1982	+			445					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Nonsense_Mutation	SNP	ENST00000426126.2	37	c.1333C>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	45	11.485754	0.99567	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	.	.	.	5.48	5.48	0.80851	.	0.067675	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0498	14.5436	0.68013	0.1464:0.8536:0.0:0.0	.	.	.	.	X	445	.	ENSP00000334868:R445X	R	+	1	2	ZDHHC17	75763623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.723000	0.93209	0.650000	0.86243	CGA		0.338	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		26	408	0	0	0	1	0	26	408					T	77239492	C	T	77239492	4	4	79	1	0	0	0	0	0	1	0	0	17660	528	19	1	1383	1	ZDHHC17	12	77239492	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30561	77239492	56612403	13587	23904											
ZDHHC17	23390	broad.mit.edu	37	chr12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaaacattgtggtgtgTgcaaccgctgtatagcaaaa	11	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	456					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1366-1368)Tgc>Cgc		zinc finger, DHHC-type containing 17							192	191	191					12																	77239525		1877	4100	5977	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239525T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1366T>C	12.37:g.77239525T>C	ENSP00000403397:p.Cys456Arg					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R|ZDHHC17_ENST00000550789.1_3'UTR	p.C456R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			13	2015	+			456					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1366T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796274	0.90453	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.62364	0.03;0.03	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.085644	0.85682	D	0.000000	D	0.84524	0.5491	H	0.97131	3.945	0.80722	D	1	P	0.50943	0.94	P	0.59761	0.863	D	0.89798	0.3973	10	0.87932	D	0	-9.4291	15.861	0.79021	0.0:0.0:0.0:1.0	.	456	Q8IUH5	ZDH17_HUMAN	R	456	ENSP00000403397:C456R;ENSP00000334868:C456R	ENSP00000334868:C456R	C	+	1	0	ZDHHC17	75763656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.860000	0.86993	2.198000	0.70561	0.528000	0.53228	TGC		0.363	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		79	427	0	0	0	1	0	79	427					C	77239525	T	C	77239525	3	2	79	1	0	0	0	0	1	0	0	0	17660	1696	59	4	1416	4	ZDHHC17	12	77239525	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	77239525	56612370	13588	23905											
E2F7	144455	broad.mit.edu	37	chr12	77423632	77423632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcatgacaagcgacagCgggccgtcttcatattccct	11	12	2	1	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	621					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0					ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1861-1863)ccG>ccA		E2F transcription factor 7		C		3,4403	6.2+/-15.9	0,3,2200	103	95	98		1863	-9.9	0	12	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	E2F7	NM_203394.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		621/912	77423632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77423632C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1863G>A	12.37:g.77423632C>T						E2F7_ENST00000416496.2_Silent_p.P621P	p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			10	2098	-			621					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.1863G>A	CCDS9016.1																																																																																				0.522	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		65	303	0	0	0	1	0	65	303					T	77423632	C	T	77423632	2	4	79	1	0	0	0	0	0	0	0	1	4888	755	27	1		1	E2F7	12	77423632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184107	77423632	56428263	13589	23906											
E2F7	144455	broad.mit.edu	37	chr12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggctcataattctcagaGacttgtcttttctactgttt	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	286					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(856-858)tCt>tTt		E2F transcription factor 7							133	119	124					12																	77438548		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77438548G>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.857C>T	12.37:g.77438548G>A	ENSP00000323246:p.Ser286Phe					E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			6	1092	-			286					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.857C>T	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077982|5.077982	0.94000|0.94000	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.41400	.|1.2;1.0;1.01	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82579|0.82579	-0.0387|-0.0387	5|10	.|0.87932	.|D	.|0	-18.3452|-18.3452	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q96AV8	.|E2F7_HUMAN	F|F	164|286	.|ENSP00000323246:S286F;ENSP00000393639:S286F;ENSP00000448245:S286F	.|ENSP00000323246:S286F	L|S	-|-	1|2	0|0	E2F7|E2F7	75962679|75962679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.393	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		80	365	0	0	0	1	0	80	365					A	77438548	G	A	77438548	3	1	79	1	0	0	0	0	1	0	0	0	4888	942	33	2	1910	2	E2F7	12	77438548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14916	77438548	56413347	13590	23907											
NAV3	89795	broad.mit.edu	37	chr12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctctaaagttccaacaGtaaagcaaaccatttcacct	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	537						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						AGTTCCAACAGTAAAGCAAAC	0.463										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(1609-1611)Gta>Ata		neuron navigator 3							60	59	59					12																	78400927		1897	4119	6016	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400927G>A	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.1609G>A	12.37:g.78400927G>A	ENSP00000381007:p.Val537Ile	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000536525.2_Missense_Mutation_p.V537I	p.V537I			Q8IVL0	NAV3_HUMAN			8	1782	+			537					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	G	6.345	0.431745	0.12045	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.29	3.38	0.38709	.	0.185424	0.25341	U	0.031368	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14805	0.011;0.0	B;B	0.12156	0.007;0.0	T	0.20806	-1.0264	10	0.40728	T	0.16	-2.8455	15.5497	0.76141	0.0:0.406:0.594:0.0	.	537;537	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	537	ENSP00000446628:V537I;ENSP00000446132:V537I;ENSP00000381007:V537I;ENSP00000228327:V537I;ENSP00000266692:V537I	ENSP00000228327:V537I	V	+	1	0	NAV3	76925058	0.753000	0.28349	0.097000	0.21041	0.126000	0.20510	3.321000	0.51999	0.555000	0.29079	0.650000	0.86243	GTA		0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		44	237	0	0	0	1	0	44	237					A	78400927	G	A	78400927	3	1	79	1	0	0	0	0	1	0	0	0	10226	1029	36	2	1639	2	NAV3	12	78400927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	962379	78400927	55450968	13591	23908											
NAV3	89795	broad.mit.edu	37	chr12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtgacacccttgataAcatcagcactgatgacctga	7	12	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	896						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						ACCCTTGATAACATCAGCACT	0.478										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(2686-2688)aAc>aCc		neuron navigator 3							178	169	172					12																	78510602		2105	4253	6358	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510602A>C	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.2687A>C	12.37:g.78510602A>C	ENSP00000381007:p.Asn896Thr	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000536525.2_Missense_Mutation_p.N896T	p.N896T			Q8IVL0	NAV3_HUMAN			13	2860	+			896					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2687A>C		.	.	.	.	.	.	.	.	.	.	A	20.2	3.942704	0.73672	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.64618	0.89;0.93;0.9;-0.11	5.71	5.71	0.89125	.	0.000000	0.43260	U	0.000582	T	0.79112	0.4391	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.98;0.992;0.995	T	0.81765	-0.0783	10	0.87932	D	0	-25.6081	15.9877	0.80174	1.0:0.0:0.0:0.0	.	896;896;896	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	896	ENSP00000446132:N896T;ENSP00000381007:N896T;ENSP00000228327:N896T;ENSP00000266692:N896T	ENSP00000228327:N896T	N	+	2	0	NAV3	77034733	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.300000	0.96151	2.165000	0.68154	0.455000	0.32223	AAC		0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		70	327	0	0	0	1	0	70	327					C	78510602	A	C	78510602	3	2	79	1	0	0	0	0	1	0	0	0	10226	43	2	4	2737	4	NAV3	12	78510602	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109675	78510602	55341293	13592	23909											
NAV3	89795	broad.mit.edu	37	chr12	78531042	78531042	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcccaagactcttccttCgatctctatgatgactccca	5	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531042C>T	ENST00000397909.2	+	19	4700	c.4527C>T	c.(4525-4527)ttC>ttT	p.F1509F	NAV3_ENST00000536525.2_Silent_p.F1509F|NAV3_ENST00000228327.6_Silent_p.F1509F|NAV3_ENST00000266692.7_Silent_p.F1332F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						ACTCTTCCTTCGATCTCTATG	0.502										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(4525-4527)ttC>ttT		neuron navigator 3							100	100	100					12																	78531042		1923	4135	6058	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531042C>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.4527C>T	12.37:g.78531042C>T		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.F1332F|NAV3_ENST00000228327.6_Silent_p.F1509F|NAV3_ENST00000536525.2_Silent_p.F1509F	p.F1509F			Q8IVL0	NAV3_HUMAN			19	4700	+			1509			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4527C>T		.	.	.	.	.	.	.	.	.	.	C	10.22	1.288995	0.23478	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.87	-3.38	0.04883	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.853	13.9713	0.64242	0.0:0.2815:0.0:0.7185	.	.	.	.	X	404	.	.	R	+	1	2	NAV3	77055173	0.421000	0.25465	0.972000	0.41901	0.953000	0.61014	-0.289000	0.08365	-0.538000	0.06281	-0.224000	0.12420	CGA		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		71	346	0	0	0	1	0	71	346					T	78531042	C	T	78531042	2	4	79	1	0	0	0	0	0	0	0	1	10226	883	31	1		1	NAV3	12	78531042	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20440	78531042	55320853	13593	23910											
NAV3	89795	broad.mit.edu	37	chr12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatcagtcattcgggcTcattcagagacagcatggaa	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1536	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						TCATTCGGGCTCATTCAGAGA	0.488										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(4606-4608)Tca>Cca		neuron navigator 3							84	83	84					12																	78531121		1908	4133	6041	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531121T>C	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.4606T>C	12.37:g.78531121T>C	ENSP00000381007:p.Ser1536Pro	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P	p.S1536P			Q8IVL0	NAV3_HUMAN			19	4779	+			1536			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4606T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.510893|4.510893	0.85389|0.85389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.35605	.|1.3;1.31;1.37;1.38;2.16	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.34268	.|U	.|0.004102	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.997;0.997	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-10.6286|-10.6286	16.2736|16.2736	0.82632|0.82632	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1536;1359;1536;1536	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	P|P	430|1536;1536;1536;1359;157;165	.|ENSP00000446132:S1536P;ENSP00000381007:S1536P;ENSP00000228327:S1536P;ENSP00000266692:S1359P;ENSP00000448303:S165P	.|ENSP00000228327:S1536P	L|S	+|+	2|1	0|0	NAV3|NAV3	77055252|77055252	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.737000|0.737000	0.42083|0.42083	7.719000|7.719000	0.84751|0.84751	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	CTC|TCA		0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	400	0	0	0	1	0	12	400					C	78531121	T	C	78531121	3	2	79	1	0	0	0	0	1	0	0	0	10226	1551	54	4	4680	4	NAV3	12	78531121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	78531121	55320774	13594	23911											
NAV3	89795	broad.mit.edu	37	chr12	78571064	78571064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgactgtggctcagcAtccatgaagccctcacaatc	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						GTGGCTCAGCATCCATGAAGC	0.433										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(5266-5268)gcA>gcG		neuron navigator 3							117	107	110					12																	78571064		1904	4137	6041	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78571064A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5268A>G	12.37:g.78571064A>G		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.A1579A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000536525.2_Silent_p.A1756A	p.A1756A			Q8IVL0	NAV3_HUMAN			27	5441	+			1756					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5268A>G		.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397454	0.01175	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	-4.39	0.03611	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.32552	N	0.532221	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	0.4945	6.924	0.24403	0.4447:0.324:0.2312:0.0	.	.	.	.	V	651	.	.	I	+	1	0	NAV3	77095195	0.001000	0.12720	0.008000	0.14137	0.217000	0.24651	-0.203000	0.09438	-0.648000	0.05437	-1.063000	0.02288	ATC		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		105	410	0	0	0	1	0	105	410					G	78571064	A	G	78571064	2	3	79	1	0	0	0	0	0	0	0	1	10226	204	8	4		4	NAV3	12	78571064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39943	78571064	55280831	13595	23912											
NAV3	89795	broad.mit.edu	37	chr12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaattacccaaaggtaCtttaacttgttgatggagca	7	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2042						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						CCCAAAGGTACTTTAACTTGT	0.358										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(6124-6126)taC>taA		neuron navigator 3							106	98	101					12																	78583834		1925	4150	6075	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583834C>A	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.6126C>A	12.37:g.78583834C>A	ENSP00000381007:p.Tyr2042*	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000552300.1_3'UTR	p.Y2042*			Q8IVL0	NAV3_HUMAN			34	6299	+			2042					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.6126C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.205461|13.205461	0.99727|0.99727	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.03|5.03	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36703	.|U	.|0.002448	T|.	0.30885|.	0.0779|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-6.2545|-6.2545	10.4374|10.4374	0.44443|0.44443	0.0:0.8325:0.0:0.1675|0.0:0.8325:0.0:0.1675	.|.	.|.	.|.	.|.	I|X	915|2020;2042;2020;1843;634;642	.|.	.|ENSP00000228327:Y2020X	L|Y	+|+	1|3	0|2	NAV3|NAV3	77107965|77107965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.117000|2.117000	0.41939|0.41939	0.575000|0.575000	0.29434|0.29434	0.655000|0.655000	0.94253|0.94253	CTT|TAC		0.358	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		62	357	1	0	7.73544e-29	1	9.01949e-29	62	357					A	78583834	C	A	78583834	4	1	79	1	0	0	0	0	0	1	0	0	10226	576	20	3	6190	3	NAV3	12	78583834	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12770	78583834	55268061	13596	23913											
NAV3	89795	broad.mit.edu	37	chr12	78604210	78604210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaactccaagaagcagcCaattactcgagcacacaaag	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000266692.7_Silent_p.A2158A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						membrane (GO:0016020)|nuclear envelope (GO:0005635)				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						AAGAAGCAGCCAATTACTCGA	0.418										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(7069-7071)gcC>gcA		neuron navigator 3							60	62	61					12																	78604210		1955	4178	6133	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78604210C>A	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.7071C>A	12.37:g.78604210C>A		HNSCC(70;0.22)				NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000536525.2_Silent_p.A2335A	p.A2357A			Q8IVL0	NAV3_HUMAN			40	7244	+			2357					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.7071C>A		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816605	0.16607	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73678	-0.3907	4	.	.	.	-16.4759	19.0721	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	K	1230;225	.	.	Q	+	1	0	NAV3	77128341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.021000	0.30040	2.520000	0.84964	0.655000	0.94253	CAA		0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	260	1	0	2.80697e-09	1	2.95087e-09	11	260					A	78604210	C	A	78604210	2	1	79	1	0	0	0	0	0	0	0	1	10226	581	21	3		3	NAV3	12	78604210	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20376	78604210	55247685	13597	23914											
MYF6	4618	broad.mit.edu	37	chr12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcagctacagacccaAacaagaaaatgtaagcctag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	170					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(508-510)aAa>aCa		myogenic factor 6 (herculin)							31	35	34					12																	81102007		2198	4294	6492	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102007A>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.509A>C	12.37:g.81102007A>C	ENSP00000228641:p.Lys170Thr						p.K170T	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	731	+			170					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.509A>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750526	0.31046	.	.	ENSG00000111046	ENST00000228641	D	0.96104	-3.91	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (1);	0.199532	0.51477	D	0.000089	D	0.93936	0.8059	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	B	0.43508	0.422	D	0.92617	0.6104	10	0.12766	T	0.61	-20.4436	16.0971	0.81132	1.0:0.0:0.0:0.0	.	170	P23409	MYF6_HUMAN	T	170	ENSP00000228641:K170T	ENSP00000228641:K170T	K	+	2	0	MYF6	79626138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.761000	0.74945	2.279000	0.76181	0.533000	0.62120	AAA		0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		63	279	0	0	0	1	0	63	279					C	81102007	A	C	81102007	3	2	79	1	0	0	0	0	1	0	0	0	10069	14	1	4	511	4	MYF6	12	81102007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2497797	81102007	52749888	13598	23915											
MYF5	4617	broad.mit.edu	37	chr12	81111163	81111163	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggctttcgaaaccctcaaGaggtgtaccacgaccaaccc	8	15	1	1	rs138763221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111163G>T	ENST00000228644.3	+	1	473	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	107	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAACCCTCAAGAGGTGTACCA	0.597																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(319-321)aaG>aaT		myogenic factor 5							72	67	69					12																	81111163		2203	4300	6503	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.chr12:81111163G>T		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.321G>T	12.37:g.81111163G>T	ENSP00000228644:p.Lys107Asn						p.K107N	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	473	+			107			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.321G>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956824	0.73902	.	.	ENSG00000111049	ENST00000228644	D	0.98381	-4.9	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.044574	0.85682	D	0.000000	D	0.98748	0.9579	M	0.83483	2.645	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.98572	1.0646	10	0.66056	D	0.02	-14.152	10.1967	0.43058	0.0701:0.1373:0.7927:0.0	.	107	P13349	MYF5_HUMAN	N	107	ENSP00000228644:K107N	ENSP00000228644:K107N	K	+	3	2	MYF5	79635294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.083000	0.41615	2.882000	0.98803	0.655000	0.94253	AAG		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		48	402	1	0	1.61004e-24	1	1.84098e-24	48	402					T	81111163	G	T	81111163	3	4	79	1	0	0	0	0	1	0	0	0	10068	933	33	3	323	3	MYF5	12	81111163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9156	81111163	52740732	13599	23916											
MYF5	4617	broad.mit.edu	37	chr12	81111216	81111216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaggtggagatcctcaGgaatgccatccgctacatcg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111216G>A	ENST00000228644.3	+	1	526	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	125	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(373-375)aGg>aAg		myogenic factor 5							86	84	84					12																	81111216		2203	4300	6503	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.chr12:81111216G>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.374G>A	12.37:g.81111216G>A	ENSP00000228644:p.Arg125Lys						p.R125K	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	526	+			125			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.374G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556658	0.96514	.	.	ENSG00000111049	ENST00000228644	D	0.98105	-4.72	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	L	0.56280	1.765	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	D	0.98797	1.0738	10	0.66056	D	0.02	-8.8803	20.6208	0.99490	0.0:0.0:1.0:0.0	.	125	P13349	MYF5_HUMAN	K	125	ENSP00000228644:R125K	ENSP00000228644:R125K	R	+	2	0	MYF5	79635347	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.416000	0.97383	2.882000	0.98803	0.655000	0.94253	AGG		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		119	528	0	0	0	1	0	119	528					A	81111216	G	A	81111216	3	1	79	1	0	0	0	0	1	0	0	0	10068	1000	35	2	376	2	MYF5	12	81111216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	81111216	52740679	13600	23917											
MYF5	4617	broad.mit.edu	37	chr12	81111235	81111235	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaatgccatccgctacatCgagagcctgcaggagttgct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111235C>T	ENST00000228644.3	+	1	545	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	131	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(391-393)atC>atT		myogenic factor 5							96	96	96					12																	81111235		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:81111235C>T		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.393C>T	12.37:g.81111235C>T							p.I131I	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	545	+			131			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.393C>T	CCDS9020.1																																																																																				0.592	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		137	652	0	0	0	1	0	137	652					T	81111235	C	T	81111235	2	4	79	1	0	0	0	0	0	0	0	1	10068	874	31	1		1	MYF5	12	81111235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	81111235	52740660	13601	23918											
ACSS3	79611	broad.mit.edu	37	chr12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatgcagggcactgtcctCcggcagtggcagcgagtaca	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	56						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(166-168)tCc>tTc		acyl-CoA synthetase short-chain family member 3							19	19	19					12																	81472066		2067	4099	6166	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472066C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.167C>T	12.37:g.81472066C>T	ENSP00000449535:p.Ser56Phe					ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F	p.S56F			Q9H6R3	ACSS3_HUMAN			1	1077	+			56					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.167C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097479	0.37048	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27402	1.67;1.67	4.76	4.76	0.60689	.	0.685773	0.12714	N	0.445308	T	0.25344	0.0616	N	0.08118	0	0.80722	D	1	P	0.36789	0.57	P	0.48114	0.567	T	0.03240	-1.1057	10	0.09590	T	0.72	-7.6315	14.7846	0.69793	0.0:1.0:0.0:0.0	.	56	Q9H6R3	ACSS3_HUMAN	F	56	ENSP00000449535:S56F;ENSP00000261206:S56F	ENSP00000261206:S56F	S	+	2	0	ACSS3	79996197	0.082000	0.21442	0.039000	0.18376	0.020000	0.10135	3.245000	0.51407	2.470000	0.83445	0.655000	0.94253	TCC		0.711	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		39	188	0	0	0	1	0	39	188					T	81472066	C	T	81472066	3	4	79	1	0	0	0	0	1	0	0	0	190	855	30	2	169	2	ACSS3	12	81472066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360831	81472066	52379829	13602	23919											
ACSS3	79611	broad.mit.edu	37	chr12	81536950	81536950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagatggcaaaagcccagtCacatgactgtgttcctgttc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81536950C>T	ENST00000548058.1	+	5	1755	c.845C>T	c.(844-846)tCa>tTa	p.S282L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	282						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAAGCCCAGTCACATGACTGT	0.438																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(844-846)tCa>tTa		acyl-CoA synthetase short-chain family member 3							130	117	122					12																	81536950		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81536950C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.845C>T	12.37:g.81536950C>T	ENSP00000449535:p.Ser282Leu					ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L	p.S282L			Q9H6R3	ACSS3_HUMAN			5	1755	+			282					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.845C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293466	0.80914	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10288	2.89;2.89	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.166220	0.56097	D	0.000033	T	0.09423	0.0232	N	0.21142	0.635	0.80722	D	1	P	0.43231	0.801	B	0.38106	0.265	T	0.06679	-1.0813	10	0.59425	D	0.04	-9.6296	16.441	0.83901	0.0:0.8602:0.1398:0.0	.	282	Q9H6R3	ACSS3_HUMAN	L	282;281	ENSP00000449535:S282L;ENSP00000261206:S281L	ENSP00000261206:S281L	S	+	2	0	ACSS3	80061081	0.666000	0.27475	0.998000	0.56505	0.994000	0.84299	2.658000	0.46733	2.797000	0.96272	0.561000	0.74099	TCA		0.438	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	268	0	0	0	1	0	7	268					T	81536950	C	T	81536950	3	4	79	1	0	0	0	0	1	0	0	0	190	838	29	2	863	2	ACSS3	12	81536950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64884	81536950	52314945	13603	23920											
PPFIA2	8499	broad.mit.edu	37	chr12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattctctttcaagaatctgCcttgcctgttgacgtcaaat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000549396.1	-	30	3652	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1164S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1164	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAAGAATCTGCCTTGCCTGTT	0.358																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3490-3492)agG>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							107	97	100					12																	81660794		1840	4088	5928	SO:0001583	missense	8499							g.chr12:81660794C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3492G>T	12.37:g.81660794C>A	ENSP00000450337:p.Arg1164Ser					PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1164S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S	p.R1164S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			29	3787	-			1063					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3492G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485167	0.63962	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.37	2.16	0.27623	.	0.235047	0.29830	N	0.011096	D	0.95582	0.8564	H	0.95187	3.635	0.51482	D	0.999923	.	.	.	.	.	.	D	0.94882	0.8040	8	0.72032	D	0.01	-0.6131	9.5769	0.39463	0.0:0.6552:0.0:0.3448	.	.	.	.	S	1164;1149;700;350;1063;1177;1152;1158;1059;1143	ENSP00000450337:R1164S;ENSP00000450298:R1149S;ENSP00000438337:R700S;ENSP00000445532:R350S;ENSP00000385093:R1063S;ENSP00000327416:R1152S;ENSP00000449338:R1158S;ENSP00000388373:R1059S;ENSP00000447868:R1143S	ENSP00000327416:R1152S	R	-	3	2	PPFIA2	80184925	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	0.658000	0.30925	0.563000	0.77884	AGG		0.358	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			18	81	1	0	1.10513e-12	1	1.18868e-12	18	81					A	81660794	C	A	81660794	3	1	79	1	0	0	0	0	1	0	0	0	12352	753	26	3	293	3	PPFIA2	12	81660794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123844	81660794	52191101	13604	23921											
PPFIA2	8499	broad.mit.edu	37	chr12	81661781	81661781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtgagccatgcacaccGctctcaagtatattatttgc	7	10	1	1	rs376867920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000549396.1	-	29	3556	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000550584.2_Silent_p.S1132S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000333447.7_Silent_p.S1120S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1132	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATGCACACCGCTCTCAAGTA	0.428																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3394-3396)agC>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2		G	,,,,,,,,	0,3794		0,0,1897	93	88	89		3396,3351,3333,3378,3093,3081,2004,954,3396	-2.7	1	12		89	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,1,6048	AA,AG,GG		0.012,0.0,0.0083	,,,,,,,,	1132/1248,1117/1233,1111/1237,1126/1252,1031/1157,1027/1153,668/784,318/444,1132/1258	81661781	1,12097	1897	4152	6049	SO:0001819	synonymous_variant	8499							g.chr12:81661781G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3396C>T	12.37:g.81661781G>A						PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.S1132S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000552948.1_Silent_p.S1111S	p.S1132S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			28	3691	-			1031					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.3396C>T	CCDS55857.1																																																																																				0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			10	53	0	0	0	1	0	10	53					A	81661781	G	A	81661781	2	1	79	1	0	0	0	0	0	0	0	1	12352	1078	38	1		1	PPFIA2	12	81661781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	81661781	52190114	13605	23922											
PPFIA2	8499	broad.mit.edu	37	chr12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacggagctgcccaagtcGagctttttcttttttaccaa	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000549396.1	-	21	2693	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	845					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R845*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413																																						ENST00000550584.2																			1	Substitution - Nonsense(1)	p.R845*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2533-2535)Cga>Tga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							197	195	196					12																	81732974		1863	4103	5966	SO:0001587	stop_gained	8499							g.chr12:81732974G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2533C>T	12.37:g.81732974G>A	ENSP00000450337:p.Arg845*					PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*	p.R845*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2828	-			771					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2533C>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981454|3.981454	0.74474|0.74474	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77905	.|-0.2413	.|3	0.02654|.	T|.	1|.	-9.8226|-9.8226	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	845;827;412;62;771;856;827;845;746;845|7	.|.	ENSP00000327416:R827X|.	R|S	-|-	1|2	2|0	PPFIA2|PPFIA2	80257105|80257105	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.679000|0.679000	0.39708|0.39708	3.168000|3.168000	0.50801|0.50801	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			141	614	0	0	0	1	0	141	614					A	81732974	G	A	81732974	4	1	79	1	0	0	0	0	0	1	0	0	12352	1066	37	1	1288	1	PPFIA2	12	81732974	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71193	81732974	52118921	13606	23923											
TMTC2	160335	broad.mit.edu	37	chr12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtatgggcttctgccTactgattacagtgggtgcta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000321196.3	+	3	2005	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R|TMTC2_ENST00000549919.1_Missense_Mutation_p.L427R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	433					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1279-1281)cTa>cGa		transmembrane and tetratricopeptide repeat containing 2							115	111	113					12																	83290240		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290240T>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1298T>G	12.37:g.83290240T>G	ENSP00000322300:p.Leu433Arg					TMTC2_ENST00000321196.3_Missense_Mutation_p.L433R|TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R	p.L427R			Q8N394	TMTC2_HUMAN			4	3085	+			433					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1280T>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869647	0.72065	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.988;0.99;0.988	T	0.78193	-0.2299	10	0.66056	D	0.02	-14.4338	16.2652	0.82574	0.0:0.0:0.0:1.0	.	433;188;433	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	433;433;427;188	ENSP00000322300:L433R;ENSP00000448292:L433R;ENSP00000447609:L427R	ENSP00000322300:L433R	L	+	2	0	TMTC2	81814371	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	CTA		0.393	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		88	385	0	0	0	1	0	88	385					G	83290240	T	G	83290240	3	3	79	1	0	0	0	0	1	0	0	0	16313	1522	53	4	1308	4	TMTC2	12	83290240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1557266	83290240	50561655	13607	23924											
SLC6A15	55117	broad.mit.edu	37	chr12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctctaagttcacaggctCtttcaggacccttcctctct	6	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000266682.5	-	12	2534	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	665					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1993-1995)Gag>Tag		solute carrier family 6 (neutral amino acid transporter), member 15							121	122	122					12																	85255611		2203	4300	6503	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255611C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1993G>T	12.37:g.85255611C>A	ENSP00000266682:p.Glu665*					SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*	p.E665*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2534	-			665					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.1993G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	40	7.971531	0.98588	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.85	4.94	0.65067	.	0.246459	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.8652	0.86027	0.0:0.8717:0.1283:0.0	.	.	.	.	X	665;558;143	.	ENSP00000266682:E665X	E	-	1	0	SLC6A15	83779742	1.000000	0.71417	0.939000	0.37840	0.988000	0.76386	7.364000	0.79526	1.417000	0.47077	0.655000	0.94253	GAG		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		110	463	1	0	2.90702e-44	1	3.55655e-44	110	463					A	85255611	C	A	85255611	4	1	79	1	0	0	0	0	0	1	0	0	14728	922	32	3	203	3	SLC6A15	12	85255611	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1965371	85255611	48596284	13608	23925											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctaaatataaagcaTttgttgcctatcaaaaatat	4	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	297	Glu-rich.|IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATATAAAGCATTTGTTGCCTA	0.299																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(889-891)Ttt>Gtt		leucine-rich repeats and IQ motif containing 1							29	33	32					12																	85449460		2199	4290	6489	SO:0001583	missense	84125							g.chr12:85449460T>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.889T>G	12.37:g.85449460T>G	ENSP00000376910:p.Phe297Val						p.F297V	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	950	+			297			Glu-rich.|IQ 1.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.889T>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429297	0.25726	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.27	5.27	0.74061	.	0.616553	0.17259	N	0.180844	T	0.57932	0.2087	L	0.43923	1.385	0.28572	N	0.910581	D;P	0.63880	0.993;0.773	P;B	0.53954	0.738;0.162	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.7459	0.62874	0.0:0.0:0.0:1.0	.	297;272	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	297;272;297	ENSP00000376910:F297V	ENSP00000256007:F297V	F	+	1	0	LRRIQ1	83973591	0.367000	0.25023	0.540000	0.28089	0.191000	0.23601	2.868000	0.48436	2.004000	0.58718	0.260000	0.18958	TTT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		13	95	0	0	0	1	0	13	95					G	85449460	T	G	85449460	3	3	79	1	0	0	0	0	1	0	0	0	9067	1493	52	4	915	4	LRRIQ1	12	85449460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193849	85449460	48402435	13609	23926											
LRRIQ1	84125	broad.mit.edu	37	chr12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgacaacagctctagaggCtattaagaatgaagaatccg	9	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1421	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTCTAGAGGCTATTAAGAAT	0.308																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4261-4263)gCt>gAt		leucine-rich repeats and IQ motif containing 1							117	109	112					12																	85531680		1795	4073	5868	SO:0001583	missense	84125							g.chr12:85531680C>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4262C>A	12.37:g.85531680C>A	ENSP00000376910:p.Ala1421Asp						p.A1421D	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	19	4323	+			1421			IQ 3.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4262C>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784353	0.70222	.	.	ENSG00000133640	ENST00000393217	T	0.55760	0.5	5.56	4.66	0.58398	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.36221	D	0.851972	D	0.53312	0.959	B	0.43623	0.425	T	0.49437	-0.8940	9	0.42905	T	0.14	.	10.6427	0.45602	0.1322:0.7979:0.0:0.0699	.	1421	Q96JM4	LRIQ1_HUMAN	D	1421	ENSP00000376910:A1421D	ENSP00000376910:A1421D	A	+	2	0	LRRIQ1	84055811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	1.333000	0.45449	0.650000	0.86243	GCT		0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		86	376	1	0	2.56433e-40	1	3.10845e-40	86	376					A	85531680	C	A	85531680	3	1	79	1	0	0	0	0	1	0	0	0	9067	797	28	3	4336	3	LRRIQ1	12	85531680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82220	85531680	48320215	13610	23927											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actagttccagaaatatgaaAtggtgaggtcatttcctcta	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1651										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATATGAAATGGTGAGGTC	0.338																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4951-4953)aaA>aaT		leucine-rich repeats and IQ motif containing 1							82	77	79					12																	85623425		1828	4076	5904	SO:0001583	missense	84125							g.chr12:85623425A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4953A>T	12.37:g.85623425A>T	ENSP00000376910:p.Lys1651Asn					LRRIQ1_ENST00000528777.3_3'UTR	p.K1651N	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	5014	+			1651					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4953A>T	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.816446|2.816446	0.50527|0.50527	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.54279|.	0.58|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.34800|0.34800	-0.9814|-0.9814	9|5	0.59425|.	D|.	0.04|.	.|.	9.4014|9.4014	0.38435|0.38435	0.9132:0.0:0.0868:0.0|0.9132:0.0:0.0868:0.0	.|.	1651|.	Q96JM4|.	LRIQ1_HUMAN|.	N|I	1651|72	ENSP00000376910:K1651N|.	ENSP00000376910:K1651N|.	K|N	+|+	3|2	2|0	LRRIQ1|LRRIQ1	84147556|84147556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.872000|2.872000	0.48467|0.48467	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		60	256	0	0	0	1	0	60	256					T	85623425	A	T	85623425	3	4	79	1	0	0	0	0	1	0	0	0	9067	98	4	5	5051	5	LRRIQ1	12	85623425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91745	85623425	48228470	13611	23928											
ALX1	8092	broad.mit.edu	37	chr12	85695100	85695100	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccagttcagccacgtgccCctcaacaattttttcactga	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	276					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.P276P(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)		GCCACGTGCCCCTCAACAATT	0.478																																						ENST00000316824.3																			1	Substitution - coding silent(1)	p.P276P(1)	lung(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						c.(826-828)ccC>ccA		ALX homeobox 1							113	109	110					12																	85695100		2203	4299	6502	SO:0001819	synonymous_variant	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.chr12:85695100C>A	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.828C>A	12.37:g.85695100C>A							p.P276P	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	983	+			276					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.828C>A	CCDS9028.1																																																																																				0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		40	500	1	0	1.76056e-25	1	2.02043e-25	40	500					A	85695100	C	A	85695100	2	1	79	1	0	0	0	0	0	0	0	1	556	610	22	3		3	ALX1	12	85695100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71675	85695100	48156795	13612	23929											
NTS	4922	broad.mit.edu	37	chr12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatctgtcacagcaggGcttttcaacactgggaggta	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	115					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353																																						ENST00000256010.6																			0				large_intestine(2)|lung(6)	8						c.(343-345)Gct>Act		neurotensin							72	71	71					12																	86272330		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272330G>A		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.343G>A	12.37:g.86272330G>A	ENSP00000256010:p.Ala115Thr					NTS_ENST00000551529.1_Intron	p.A115T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN			3	450	+			115						Missense_Mutation	SNP	ENST00000256010.6	37	c.343G>A	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773904	0.49786	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.294351	0.34750	N	0.003709	T	0.49474	0.1559	L	0.50333	1.59	0.34515	D	0.707496	P	0.39717	0.684	B	0.41036	0.346	T	0.61628	-0.7024	9	0.32370	T	0.25	-2.8639	13.3229	0.60442	0.0757:0.0:0.9243:0.0	.	115	P30990	NEUT_HUMAN	T	115;60	.	ENSP00000256010:A115T	A	+	1	0	NTS	84796461	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.658000	0.46733	2.477000	0.83638	0.563000	0.77884	GCT		0.353	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			77	296	0	0	0	1	0	77	296					A	86272330	G	A	86272330	3	1	79	1	0	0	0	0	1	0	0	0	10751	1203	42	2	353	2	NTS	12	86272330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577230	86272330	47579565	13613	23930											
C12orf50	160419	broad.mit.edu	37	chr12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttacctctctgcattccaGagttaggaaagttctgtggt	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(907-909)tCt>tAt		chromosome 12 open reading frame 50							106	106	106					12																	88380103		2203	4299	6502	SO:0001583	missense	160419							g.chr12:88380103G>T	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.908C>A	12.37:g.88380103G>T	ENSP00000298699:p.Ser303Tyr					C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	p.S303Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			10	1088	-			303					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.908C>A	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173542	0.38413	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.38;1.37	6.01	6.01	0.97437	.	0.547279	0.19009	N	0.125123	T	0.42040	0.1185	L	0.44542	1.39	0.32994	D	0.525332	D;P	0.54964	0.969;0.874	P;B	0.47827	0.558;0.444	T	0.53933	-0.8368	10	0.72032	D	0.01	.	17.4379	0.87557	0.0:0.0:1.0:0.0	.	318;303	G3V208;Q8NA57	.;CL050_HUMAN	Y	303;264;318	ENSP00000298699:S303Y;ENSP00000448344:S264Y	ENSP00000298699:S303Y	S	-	2	0	C12orf50	86904234	0.980000	0.34600	0.891000	0.34965	0.048000	0.14542	2.849000	0.48286	2.861000	0.98227	0.650000	0.86243	TCT		0.303	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		41	296	1	0	4.17593e-13	1	4.50145e-13	41	296					T	88380103	G	T	88380103	3	4	79	1	0	0	0	0	1	0	0	0	1700	942	33	3	352	3	C12orf50	12	88380103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2107773	88380103	45471792	13614	23931											
C12orf29	91298	broad.mit.edu	37	chr12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattttttagaattttttTggaacgttgaggaggacttc	9	3	0	2	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	105					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(313-315)Tgg>Cgg		chromosome 12 open reading frame 29							31	33	32					12																	88437384		2202	4300	6502	SO:0001583	missense	91298							g.chr12:88437384T>C	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.313T>C	12.37:g.88437384T>C	ENSP00000349358:p.Trp105Arg					C12orf29_ENST00000548757.2_3'UTR	p.W105R	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			4	516	+			105					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	37	c.313T>C	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489869	0.64074	.	.	ENSG00000133641	ENST00000356891	T	0.39592	1.07	5.45	5.45	0.79879	.	0.057827	0.85682	D	0.000000	T	0.43233	0.1238	M	0.73598	2.24	0.80722	D	1	P	0.42620	0.785	B	0.35240	0.198	T	0.53927	-0.8369	10	0.87932	D	0	-22.0648	14.3702	0.66833	0.0:0.0:0.0:1.0	.	105	Q8N999	CL029_HUMAN	R	105	ENSP00000349358:W105R	ENSP00000349358:W105R	W	+	1	0	C12orf29	86961515	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.237000	0.78164	2.189000	0.69895	0.460000	0.39030	TGG		0.358	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		27	86	0	0	0	1	0	27	86					C	88437384	T	C	88437384	3	2	79	1	0	0	0	0	1	0	0	0	1685	1812	63	4	327	4	C12orf29	12	88437384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57281	88437384	45414511	13615	23932											
CEP290	80184	broad.mit.edu	37	chr12	88449353	88449353	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaattacgttacttacCtgttgttcaaggtcttcatt	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960G>A	c.(6958-6960)caG>caA	p.Q2320Q	CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q|CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2320					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGTTACTTACCTGTTGTTCAA	0.294																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.e50+1		centrosomal protein 290kDa							208	193	198					12																	88449353		1838	4078	5916	SO:0001630	splice_region_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88449353C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6960+1G>A	12.37:g.88449353C>T						CEP290_ENST00000309041.7_Splice_Site_p.Q2322_splice|CEP290_ENST00000547691.2_Splice_Site_p.Q1380_splice|CEP290_ENST00000397838.3_Splice_Site_p.Q1380_splice	p.Q2320_splice	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			50	7303	-			2320					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Splice_Site	SNP	ENST00000552810.1	37	c.6960_splice	CCDS55858.1																																																																																				0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	Silent	4	26	0	0	0	1	0	4	26					T	88449353	C	T	88449353	5	4	79	1	0	0	0	0	0	0	1	0	3262	695	24	2	499	2	CEP290	12	88449353	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11969	88449353	45402542	13616	23933											
TMTC3	160418	broad.mit.edu	37	chr12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttgttgttgccgagCgagtattatatgttcccagc	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	376					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)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1126-1128)Cga>Tga		transmembrane and tetratricopeptide repeat containing 3							124	120	122					12																	88566449		2203	4300	6503	SO:0001587	stop_gained	160418					integral to membrane	binding	g.chr12:88566449C>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.1126C>T	12.37:g.88566449C>T	ENSP00000266712:p.Arg376*						p.R376*	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1346	+			376					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	ENST00000266712.6	37	c.1126C>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871926	0.97901	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9127	14.6929	0.69098	0.265:0.735:0.0:0.0	.	.	.	.	X	376	.	ENSP00000266712:R376X	R	+	1	2	TMTC3	87090580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	0.656000	0.30886	0.650000	0.86243	CGA		0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		83	467	0	0	0	1	0	83	467					T	88566449	C	T	88566449	4	4	79	1	0	0	0	0	0	1	0	0	16314	760	27	1	1152	1	TMTC3	12	88566449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117096	88566449	45285446	13617	23934											
POC1B	282809	broad.mit.edu	37	chr12	89815013	89815013	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctgtcaaagtcagtcGctgctccaagattgaaacag	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	ENST00000313546.3	-	12	1482	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Nonsense_Mutation_p.R322*|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	452					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(964-966)Cga>Tga		POC1 centriolar protein B							37	34	35					12																	89815013		2203	4300	6503	SO:0001587	stop_gained	282809							g.chr12:89815013G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1354C>T	12.37:g.89815013G>A	ENSP00000323302:p.Arg452*					POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000313546.3_Nonsense_Mutation_p.R452*|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000378528.2_3'UTR	p.R322*							10	1577	-								G3V1X0	Nonsense_Mutation	SNP	ENST00000313546.3	37	c.964C>T	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	42	9.725795	0.99248	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	.	.	.	X	322;452;410	.	ENSP00000323302:R452X	R	-	1	2	POC1B	88339144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.692000	0.74578	2.617000	0.88574	0.655000	0.94253	CGA		0.398	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		5	62	0	0	0	1	0	5	62					A	89815013	G	A	89815013	4	1	79	1	0	0	0	0	0	1	0	0	12218	1095	38	1	86	1	POC1B	12	89815013	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248564	89815013	44036882	13618	23935											
POC1B	282809	broad.mit.edu	37	chr12	89885781	89885781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcgatacatgctccaTacttttatggatttgtcttc	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	128					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418																																						ENST00000313546.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(382-384)gtA>gtG		POC1 centriolar protein B							130	126	127					12																	89885781		2203	4300	6503	SO:0001819	synonymous_variant	282809							g.chr12:89885781T>C	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.384A>G	12.37:g.89885781T>C						POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_5'UTR	p.V128V	NM_172240.2	NP_758440.1					4	512	-								G3V1X0	Silent	SNP	ENST00000313546.3	37	c.384A>G	CCDS31869.1																																																																																				0.418	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		29	321	0	0	0	1	0	29	321					C	89885781	T	C	89885781	2	2	79	1	0	0	0	0	0	0	0	1	12218	1393	49	4		4	POC1B	12	89885781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70768	89885781	43966114	13619	23936											
ATP2B1	490	broad.mit.edu	37	chr12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcataaagttgtgaatcGaacttcttgattccggtttt	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000359142.3_3'UTR|AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S1140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378																																						ENST00000428670.3																			1	Substitution - Missense(1)	p.S1140L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3418-3420)tCg>tTg		ATPase, Ca++ transporting, plasma membrane 1							137	127	130					12																	89985005		2203	4299	6502	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89985005G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3419C>T	12.37:g.89985005G>A	ENSP00000392043:p.Ser1140Leu					ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L	p.S1140L			P20020	AT2B1_HUMAN			21	3875	-			1178					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3419C>T	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.378	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		86	358	0	0	0	1	0	86	358					A	89985005	G	A	89985005	3	1	79	1	0	0	0	0	1	0	0	0	1140	1059	37	1	247	1	ATP2B1	12	89985005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99224	89985005	43866890	13620	23937											
ATP2B1	490	broad.mit.edu	37	chr12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agattccttcgaatacatttCtttcaccatgaattttccgg	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	997					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAATACATTTCTTTCACCATG	0.348																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2989-2991)aGa>aTa		ATPase, Ca++ transporting, plasma membrane 1							101	95	97					12																	89996890		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89996890C>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2990G>T	12.37:g.89996890C>A	ENSP00000392043:p.Arg997Ile					ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I	p.R997I			P20020	AT2B1_HUMAN			18	3446	-			997					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.2990G>T	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.177853|5.177853	0.94846|0.94846	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.94862	.|-3.54;-3.54;-3.54;-3.54;-3.54	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96191	.|0.8758	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.36;0.323	.|D;B;B	.|0.83275	.|0.996;0.158;0.048	.|D	.|0.96487	.|0.9361	.|10	.|0.59425	.|D	.|0.04	-8.967|-8.967	18.7145|18.7145	0.91670|0.91670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|997;997;997	.|P20020-3;P20020-2;P20020-6	.|.;.;.	X|I	14|997;997;997;997;740	.|ENSP00000261173:R997I;ENSP00000343599:R997I;ENSP00000352054:R997I;ENSP00000392043:R997I;ENSP00000376869:R740I	.|ENSP00000261173:R997I	E|R	-|-	1|2	0|0	ATP2B1|ATP2B1	88521021|88521021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.485000|2.485000	0.83878|0.83878	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.348	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		10	241	1	0	0.000673444	1	0.000681208	10	241					A	89996890	C	A	89996890	3	1	79	1	0	0	0	0	1	0	0	0	1140	913	32	3	846	3	ATP2B1	12	89996890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11885	89996890	43855005	13621	23938											
ATP2B1	490	broad.mit.edu	37	chr12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcctcttcacctccaGctccaagtaaggtaaagata	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	293					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ttcACCTCCAGCTCCAAGTAA	0.343																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(877-879)gCt>gAt		ATPase, Ca++ transporting, plasma membrane 1							69	64	66					12																	90024332		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024332G>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.878C>A	12.37:g.90024332G>T	ENSP00000392043:p.Ala293Asp					ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D	p.A293D			P20020	AT2B1_HUMAN			6	1334	-			293					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.878C>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935294	0.73442	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.42	5.42	0.78866	.	0.221912	0.46758	D	0.000261	D	0.87116	0.6097	L	0.29908	0.895	0.80722	D	1	P;B	0.46512	0.879;0.045	B;B	0.43103	0.408;0.093	D	0.85982	0.1483	9	.	.	.	-31.7678	19.2222	0.93801	0.0:0.0:1.0:0.0	.	293;293	P20020-3;P20020-2	.;.	D	293;293;293;293;36	ENSP00000261173:A293D;ENSP00000343599:A293D;ENSP00000352054:A293D;ENSP00000392043:A293D;ENSP00000376869:A36D	.	A	-	2	0	ATP2B1	88548463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	2.555000	0.86185	0.650000	0.86243	GCT		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		38	192	1	0	5.43694e-19	1	6.05247e-19	38	192					T	90024332	G	T	90024332	3	4	79	1	0	0	0	0	1	0	0	0	1140	971	34	3	3006	3	ATP2B1	12	90024332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27442	90024332	43827563	13622	23939											
ATP2B1	490	broad.mit.edu	37	chr12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaatttacacctacaGctgtaactaccattcttcca	4	11	1	1	rs543717834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	277					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACACCTACAGCTGTAACTAC	0.363																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(829-831)gCt>gTt		ATPase, Ca++ transporting, plasma membrane 1							94	87	89					12																	90024380		2203	4297	6500	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024380G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.830C>T	12.37:g.90024380G>A	ENSP00000392043:p.Ala277Val					ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V	p.A277V			P20020	AT2B1_HUMAN			6	1286	-			277					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.830C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455931	0.96223	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.48	5.48	0.80851	.	0.104870	0.64402	D	0.000003	D	0.97034	0.9031	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.948	D	0.97468	1.0039	9	.	.	.	-21.5485	19.35	0.94379	0.0:0.0:1.0:0.0	.	277;277	P20020-3;P20020-2	.;.	V	277;277;277;277;20	ENSP00000261173:A277V;ENSP00000343599:A277V;ENSP00000352054:A277V;ENSP00000392043:A277V;ENSP00000376869:A20V	.	A	-	2	0	ATP2B1	88548511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.574000	0.86865	0.650000	0.86243	GCT		0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		35	232	0	0	0	1	0	35	232					A	90024380	G	A	90024380	3	1	79	1	0	0	0	0	1	0	0	0	1140	971	34	2	3054	2	ATP2B1	12	90024380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	90024380	43827515	13623	23940											
ATP2B1	490	broad.mit.edu	37	chr12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaattccatagacatctCcatagctttcctgtattttt	4	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	54					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATAGACATCTCCATAGCTTTC	0.403																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(160-162)gGa>gAa		ATPase, Ca++ transporting, plasma membrane 1							81	78	79					12																	90049503		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90049503C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.161G>A	12.37:g.90049503C>T	ENSP00000392043:p.Gly54Glu					ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E	p.G54E			P20020	AT2B1_HUMAN			2	617	-			54					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.161G>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152498	0.78001	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.48	5.48	0.80851	.	0.052038	0.85682	D	0.000000	D	0.87533	0.6201	M	0.89534	3.04	0.80722	D	1	B;P	0.34815	0.046;0.47	B;P	0.46172	0.027;0.506	D	0.86701	0.1929	9	.	.	.	0.5749	19.7147	0.96110	0.0:1.0:0.0:0.0	.	54;54	P20020-3;P20020-2	.;.	E	54	ENSP00000261173:G54E;ENSP00000343599:G54E;ENSP00000352054:G54E;ENSP00000392043:G54E	.	G	-	2	0	ATP2B1	88573634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.577000	0.60922	2.732000	0.93576	0.591000	0.81541	GGA		0.403	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		54	247	0	0	0	1	0	54	247					T	90049503	C	T	90049503	3	4	79	1	0	0	0	0	1	0	0	0	1140	855	30	2	3739	2	ATP2B1	12	90049503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25123	90049503	43802392	13624	23941											
C12orf12	196477	broad.mit.edu	37	chr12	91347577	91347577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcttcctcctcatcttCgacctcttcctcctcatctt	1	19	7	0	rs374196591|rs558083520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347577C>T	ENST00000358859.2	-	1	1376	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	315	Glu-rich.																tcctcatcttcgacctcttcc	0.532																																						ENST00000358859.2																			0											c.(943-945)Gaa>Aaa		coiled-coil glutamate-rich protein 1							220	187	198					12																	91347577		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347577C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.943G>A	12.37:g.91347577C>T	ENSP00000351727:p.Glu315Lys					CCER1_ENST00000548187.1_Intron	p.E315K	NM_152638.2	NP_689851.1					1	1376	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.943G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	c	4.874	0.162433	0.09287	.	.	ENSG00000197651	ENST00000358859	T	0.22336	1.96	3.23	3.23	0.37069	.	0.476592	0.15554	U	0.256242	T	0.14743	0.0356	N	0.24115	0.695	0.09310	N	1	P	0.50272	0.933	B	0.43360	0.417	T	0.08432	-1.0722	10	0.30854	T	0.27	.	9.8396	0.40991	0.0:1.0:0.0:0.0	.	315	Q8TC90	CL012_HUMAN	K	315	ENSP00000351727:E315K	ENSP00000351727:E315K	E	-	1	0	C12orf12	89871708	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.081000	0.11321	1.618000	0.50286	0.187000	0.17357	GAA		0.532	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		38	397	0	0	0	1	0	38	397					T	91347577	C	T	91347577	3	4	79	1	0	0	0	0	1	0	0	0	1681	893	31	1	281	1	C12orf12	12	91347577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1298074	91347577	42504318	13625	23942											
C12orf12	196477	broad.mit.edu	37	chr12	91347597	91347597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacctcttcctcctcatctTcgacctcttcttcctcctcg	3	20	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347597T>C	ENST00000358859.2	-	1	1356	c.923A>G	c.(922-924)gAa>gGa	p.E308G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	308	Glu-rich.																ctcctcatcttcgacctcttc	0.527																																						ENST00000358859.2																			0											c.(922-924)gAa>gGa		coiled-coil glutamate-rich protein 1							215	186	196					12																	91347597		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347597T>C	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.923A>G	12.37:g.91347597T>C	ENSP00000351727:p.Glu308Gly					CCER1_ENST00000548187.1_Intron	p.E308G	NM_152638.2	NP_689851.1					1	1356	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.923A>G	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	4.092	0.015149	0.07959	.	.	ENSG00000197651	ENST00000358859	T	0.37411	1.2	4.76	-5.08	0.02929	.	0.249561	0.20757	N	0.086240	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	P	0.42908	0.793	B	0.40375	0.327	T	0.21655	-1.0239	10	0.34782	T	0.22	-10.5853	4.7038	0.12839	0.1276:0.0823:0.5219:0.2682	.	308	Q8TC90	CL012_HUMAN	G	308	ENSP00000351727:E308G	ENSP00000351727:E308G	E	-	2	0	C12orf12	89871728	0.005000	0.15991	0.000000	0.03702	0.070000	0.16714	1.290000	0.33319	-0.717000	0.04955	-0.710000	0.03640	GAA		0.527	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		48	485	0	0	0	1	0	48	485					C	91347597	T	C	91347597	3	2	79	1	0	0	0	0	1	0	0	0	1681	1783	62	4	301	4	C12orf12	12	91347597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20	91347597	42504298	13626	23943											
C12orf12	196477	broad.mit.edu	37	chr12	91348413	91348413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgccttcgatggcaggacGaccaggagctcaaggaggcc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91348413G>A	ENST00000358859.2	-	1	540	c.107C>T	c.(106-108)tCg>tTg	p.S36L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	36																	ATGGCAGGACGACCAGGAGCT	0.657																																						ENST00000358859.2																			0											c.(106-108)tCg>tTg		coiled-coil glutamate-rich protein 1							17	16	17					12																	91348413		2201	4300	6501	SO:0001583	missense	196477							g.chr12:91348413G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.107C>T	12.37:g.91348413G>A	ENSP00000351727:p.Ser36Leu					CCER1_ENST00000548187.1_Intron	p.S36L	NM_152638.2	NP_689851.1					1	540	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.107C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605949	0.46527	.	.	ENSG00000197651	ENST00000358859	T	0.43294	0.95	5.08	4.18	0.49190	.	0.988962	0.08180	N	0.985692	T	0.47655	0.1457	L	0.27053	0.805	0.26525	N	0.974364	D	0.67145	0.996	P	0.57548	0.823	T	0.40794	-0.9544	10	0.72032	D	0.01	-7.7442	11.2994	0.49295	0.0:0.1837:0.8163:0.0	.	36	Q8TC90	CL012_HUMAN	L	36	ENSP00000351727:S36L	ENSP00000351727:S36L	S	-	2	0	C12orf12	89872544	0.970000	0.33590	0.386000	0.26170	0.144000	0.21451	1.817000	0.39002	1.342000	0.45619	0.462000	0.41574	TCG		0.657	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		22	93	0	0	0	1	0	22	93					A	91348413	G	A	91348413	3	1	79	1	0	0	0	0	1	0	0	0	1681	1059	37	1	1117	1	C12orf12	12	91348413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	816	91348413	42503482	13627	23944											
EPYC	1833	broad.mit.edu	37	chr12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggggagaagagccatcaAtcagcctgggagtagattcc	13	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	93					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(277-279)aTt>aCt		epiphycan							128	126	126					12																	91371927		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91371927A>G	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.278T>C	12.37:g.91371927A>G	ENSP00000261172:p.Ile93Thr		OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282		p.I93T	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			3	370	-			93					A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.278T>C	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720306	0.30503	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66099	0.5;-0.19	5.48	4.34	0.51931	.	0.359483	0.34338	N	0.004043	T	0.56529	0.1991	L	0.53249	1.67	0.42210	D	0.9918	B	0.09022	0.002	B	0.12837	0.008	T	0.54377	-0.8303	10	0.48119	T	0.1	.	11.5031	0.50450	0.9294:0.0:0.0706:0.0	.	93	Q99645	EPYC_HUMAN	T	93	ENSP00000261172:I93T;ENSP00000448272:I93T	ENSP00000261172:I93T	I	-	2	0	EPYC	89896058	1.000000	0.71417	0.780000	0.31762	0.460000	0.32559	5.945000	0.70226	1.027000	0.39758	0.454000	0.30748	ATT		0.537	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		80	401	0	0	0	1	0	80	401					G	91371927	A	G	91371927	3	3	79	1	0	0	0	0	1	0	0	0	5219	101	4	4	710	4	EPYC	12	91371927	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23514	91371927	42479968	13628	23945											
KERA	11081	broad.mit.edu	37	chr12	91449450	91449450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggcatattcctcagGgcattcttggccatgtttag	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	203					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(607-609)gcC>gcT		keratocan							129	127	128					12																	91449450		2203	4299	6502	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449450G>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.609C>T	12.37:g.91449450G>A							p.A203A	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	856	-			203						Silent	SNP	ENST00000266719.3	37	c.609C>T	CCDS9037.1																																																																																				0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		125	567	0	0	0	1	0	125	567					A	91449450	G	A	91449450	2	1	79	1	0	0	0	0	0	0	0	1	8173	1219	43	2		2	KERA	12	91449450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77523	91449450	42402445	13629	23946											
KERA	11081	broad.mit.edu	37	chr12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaattccgtagttggttatTttgttcttgtttagatttat	7	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	106					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGTTGGTTATTTTGTTCTTGT	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(316-318)aaA>aaC		keratocan							146	134	138					12																	91449741		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449741T>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.318A>C	12.37:g.91449741T>G	ENSP00000266719:p.Lys106Asn						p.K106N	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	565	-			106						Missense_Mutation	SNP	ENST00000266719.3	37	c.318A>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284185	0.59867	.	.	ENSG00000139330	ENST00000266719	T	0.54866	0.55	6.04	3.63	0.41609	.	0.041188	0.85682	D	0.000000	T	0.54303	0.1850	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.51379	-0.8713	10	0.33141	T	0.24	-36.8212	5.5376	0.17020	0.1198:0.1838:0.0:0.6964	.	106	O60938	KERA_HUMAN	N	106	ENSP00000266719:K106N	ENSP00000266719:K106N	K	-	3	2	KERA	89973872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.605000	0.36815	1.085000	0.41206	0.529000	0.55759	AAA		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		19	519	0	0	0	1	0	19	519					G	91449741	T	G	91449741	3	3	79	1	0	0	0	0	1	0	0	0	8173	1838	64	4	748	4	KERA	12	91449741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	291	91449741	42402154	13630	23947											
KERA	11081	broad.mit.edu	37	chr12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgatgaaacagattgTgcctgccattatagcaccta	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	4					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(10-12)Aca>Cca		keratocan							48	41	43					12																	91450049		2200	4296	6496	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91450049T>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.10A>C	12.37:g.91450049T>G	ENSP00000266719:p.Thr4Pro						p.T4P	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	257	-			4						Missense_Mutation	SNP	ENST00000266719.3	37	c.10A>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114561	0.01799	.	.	ENSG00000139330	ENST00000266719	T	0.55234	0.53	5.96	-0.939	0.10408	.	1.074070	0.06975	N	0.818779	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.25751	T	0.34	0.0551	7.3371	0.26615	0.0:0.0984:0.3703:0.5313	.	4	O60938	KERA_HUMAN	P	4	ENSP00000266719:T4P	ENSP00000266719:T4P	T	-	1	0	KERA	89974180	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.013000	0.13310	-0.076000	0.12775	0.528000	0.53228	ACA		0.358	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		50	207	0	0	0	1	0	50	207					G	91450049	T	G	91450049	3	3	79	1	0	0	0	0	1	0	0	0	8173	1696	59	4	1056	4	KERA	12	91450049	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	308	91450049	42401846	13631	23948											
LUM	4060	broad.mit.edu	37	chr12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcagatactgcaatgcatTaaaacgcttgaaatactcat	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	229					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(685-687)Aat>Gat		lumican							170	159	163					12																	91502072		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502072T>C	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.685A>G	12.37:g.91502072T>C	ENSP00000266718:p.Asn229Asp					LUM_ENST00000548071.1_Intron	p.N229D	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1139	-			229					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.685A>G	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737966	0.30774	.	.	ENSG00000139329	ENST00000266718	T	0.56611	0.45	5.84	4.7	0.59300	.	1.142620	0.06250	N	0.691833	T	0.42944	0.1225	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.25987	0.065	T	0.43294	-0.9400	10	0.59425	D	0.04	-14.8601	11.6157	0.51088	0.0:0.0691:0.0:0.9309	.	229	P51884	LUM_HUMAN	D	229	ENSP00000266718:N229D	ENSP00000266718:N229D	N	-	1	0	LUM	90026203	0.517000	0.26226	0.037000	0.18230	0.844000	0.47949	2.745000	0.47459	1.049000	0.40321	0.455000	0.32223	AAT		0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		115	573	0	0	0	1	0	115	573					C	91502072	T	C	91502072	3	2	79	1	0	0	0	0	1	0	0	0	9123	1754	61	4	339	4	LUM	12	91502072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52023	91502072	42349823	13632	23949											
DCN	1634	broad.mit.edu	37	chr12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagagccattgtcaacaGcagagatgctgttgaaactc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	259					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|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)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTGTCAACAGCAGAGATGCT	0.473																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(775-777)gCt>gAt		decorin							120	96	104					12																	91545540		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91545540G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.776C>A	12.37:g.91545540G>T	ENSP00000052754:p.Ala259Asp					DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D	p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			7	1277	-			259					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.776C>A	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.542|0.542	-0.853349|-0.853349	0.02630|0.02630	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.58|5.58	0.558|0.558	0.17266|0.17266	.|.	0.841391|.	0.11300|.	N|.	0.578333|.	T|.	0.21718|.	0.0523|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30889|.	0.0;0.0;0.299|.	B;B;B|.	0.23852|.	0.001;0.001;0.049|.	T|.	0.28459|.	-1.0043|.	10|.	0.02654|.	T|.	1|.	.|.	8.2526|8.2526	0.31735|0.31735	0.324:0.1011:0.5748:0.0|0.324:0.1011:0.5748:0.0	.|.	259;112;150|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	D|X	259;150;259;112;259;150;112;112|28	ENSP00000052754:A259D;ENSP00000228329:A150D;ENSP00000376862:A259D;ENSP00000401021:A112D;ENSP00000447654:A259D;ENSP00000413723:A150D;ENSP00000447674:A112D;ENSP00000446530:A112D|.	ENSP00000052754:A259D|.	A|C	-|-	2|3	0|2	DCN|DCN	90069671|90069671	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.291000|0.291000	0.27294|0.27294	0.596000|0.596000	0.24044|0.24044	-0.309000|-0.309000	0.08779|0.08779	-1.094000|-1.094000	0.02160|0.02160	GCT|TGC		0.473	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		11	151	1	0	6.42651e-13	1	6.92124e-13	11	151					T	91545540	G	T	91545540	3	4	79	1	0	0	0	0	1	0	0	0	4308	971	34	3	311	3	DCN	12	91545540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43468	91545540	42306355	13633	23950											
EEA1	8411	broad.mit.edu	37	chr12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actactaaccaagtctaataTagcggcttttcctttctgat	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2659-2661)Ata>Gta		early endosome antigen 1							51	55	54					12																	93196191		2200	4295	6495	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93196191T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2659A>G	12.37:g.93196191T>C	ENSP00000317955:p.Ile887Val						p.I887V	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			19	2923	-			887					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.2659A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650910	0.03506	.	.	ENSG00000102189	ENST00000322349	T	0.62788	0.0	5.4	-0.258	0.12975	.	0.442204	0.19156	N	0.121338	T	0.27454	0.0674	N	0.02916	-0.46	0.21020	N	0.999803	B	0.02656	0.0	B	0.04013	0.001	T	0.08994	-1.0695	10	0.29301	T	0.29	.	1.7563	0.02983	0.1541:0.3229:0.1128:0.4102	.	887	Q15075	EEA1_HUMAN	V	887	ENSP00000317955:I887V	ENSP00000317955:I887V	I	-	1	0	EEA1	91720322	0.051000	0.20477	0.993000	0.49108	0.970000	0.65996	-0.276000	0.08514	0.040000	0.15660	0.402000	0.26972	ATA		0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		26	125	0	0	0	1	0	26	125					C	93196191	T	C	93196191	3	2	79	1	0	0	0	0	1	0	0	0	4937	1406	49	4	1620	4	EEA1	12	93196191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1650651	93196191	40655704	13634	23951											
EEA1	8411	broad.mit.edu	37	chr12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtttttgctgcttctgCtgatagtaatagttcggttt	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	654	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1960-1962)Gca>Tca		early endosome antigen 1							176	155	162					12																	93206839		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93206839C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1960G>T	12.37:g.93206839C>A	ENSP00000317955:p.Ala654Ser						p.A654S	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			16	2224	-			654			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1960G>T	CCDS31874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202315|5.202315	0.94997|0.94997	.|.	.|.	ENSG00000102189|ENSG00000102189	ENST00000322349|ENST00000549790	T|.	0.44881|.	0.91|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.47852|.	U|.	0.000202|.	T|T	0.62744|0.62744	0.2453|0.2453	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.66324|0.66324	-0.5952|-0.5952	10|6	0.09084|0.87932	T|D	0.74|0	.|.	18.4977|18.4977	0.90870|0.90870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	654|.	Q15075|.	EEA1_HUMAN|.	S|H	654|23	ENSP00000317955:A654S|.	ENSP00000317955:A654S|ENSP00000446785:Q23H	A|Q	-|-	1|3	0|2	EEA1|EEA1	91730970|91730970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.547000|7.547000	0.82146|0.82146	2.465000|2.465000	0.83290|0.83290	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		40	358	1	0	2.95478e-19	1	3.29235e-19	40	358					A	93206839	C	A	93206839	3	1	79	1	0	0	0	0	1	0	0	0	4937	797	28	3	2331	3	EEA1	12	93206839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10648	93206839	40645056	13635	23952											
EEA1	8411	broad.mit.edu	37	chr12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctcctttttcacttagttCtacatgtattctatgcagtg	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	366					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1096-1098)Gaa>Aaa		early endosome antigen 1							151	141	144					12																	93226446		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93226446C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1096G>A	12.37:g.93226446C>T	ENSP00000317955:p.Glu366Lys						p.E366K	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			11	1360	-			366					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1096G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756161	0.69648	.	.	ENSG00000102189	ENST00000322349	T	0.69685	-0.42	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	T	0.74921	0.3780	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73538	-0.3951	10	0.39692	T	0.17	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	366	Q15075	EEA1_HUMAN	K	366	ENSP00000317955:E366K	ENSP00000317955:E366K	E	-	1	0	EEA1	91750577	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAA		0.393	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		98	486	0	0	0	1	0	98	486					T	93226446	C	T	93226446	3	4	79	1	0	0	0	0	1	0	0	0	4937	922	32	2	3215	2	EEA1	12	93226446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19607	93226446	40625449	13636	23953											
CRADD	8738	broad.mit.edu	37	chr12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacaaacaagtactccGctcacttcgcctggagctgg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	10	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(28-30)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain							71	67	69					12																	94072579		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072579G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.29G>A	12.37:g.94072579G>A	ENSP00000439068:p.Arg10His					CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H	p.R10H			P78560	CRADD_HUMAN			2	347	+			10			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.29G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58177	-0.7682	10	0.72032	D	0.01	-7.4989	18.7029	0.91627	0.0:0.0:1.0:0.0	.	10;10	F5H7C2;P78560	.;CRADD_HUMAN	H	10	ENSP00000449570:R10H;ENSP00000327647:R10H;ENSP00000449664:R10H;ENSP00000448685:R10H;ENSP00000439068:R10H;ENSP00000442624:R10H	ENSP00000327647:R10H	R	+	2	0	CRADD	92596710	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.787000	0.91830	2.403000	0.81681	0.655000	0.94253	CGC		0.483	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		50	187	0	0	0	1	0	50	187					A	94072579	G	A	94072579	3	1	79	1	0	0	0	0	1	0	0	0	3854	1087	38	1	31	1	CRADD	12	94072579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846133	94072579	39779316	13637	23954											
CRADD	8738	broad.mit.edu	37	chr12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtattggtggagggactgGttcttcagtacctctaccag	13	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	26	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(76-78)Gtt>Att		CASP2 and RIPK1 domain containing adaptor with death domain							79	74	76					12																	94072626		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072626G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.76G>A	12.37:g.94072626G>A	ENSP00000439068:p.Val26Ile					CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I	p.V26I			P78560	CRADD_HUMAN			2	394	+			26			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.76G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355886	0.61293	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.054062	0.64402	D	0.000001	T	0.32102	0.0818	N	0.11724	0.165	0.45005	D	0.998029	D;B	0.67145	0.996;0.051	D;B	0.76071	0.987;0.233	T	0.15009	-1.0452	10	0.13853	T	0.58	-25.1462	18.7029	0.91627	0.0:0.0:1.0:0.0	.	26;26	F5H7C2;P78560	.;CRADD_HUMAN	I	26	ENSP00000449570:V26I;ENSP00000327647:V26I;ENSP00000449664:V26I;ENSP00000448685:V26I;ENSP00000439068:V26I;ENSP00000442624:V26I	ENSP00000327647:V26I	V	+	1	0	CRADD	92596757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.403000	0.81681	0.655000	0.94253	GTT		0.498	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		59	237	0	0	0	1	0	59	237					A	94072626	G	A	94072626	3	1	79	1	0	0	0	0	1	0	0	0	3854	1261	44	2	78	2	CRADD	12	94072626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	94072626	39779269	13638	23955											
PLXNC1	10154	broad.mit.edu	37	chr12	94673321	94673321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaatatttcagtcaatgTtctcgactgtgacaccattg	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94673321T>C	ENST00000258526.4	+	22	3920	c.3671T>C	c.(3670-3672)gTt>gCt	p.V1224A	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A|RP11-1105G2.3_ENST00000547927.1_5'Flank|RP11-1105G2.4_ENST00000550111.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1224					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGTCAATGTTCTCGACTGT	0.408																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3670-3672)gTt>gCt		plexin C1							107	103	104					12																	94673321		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94673321T>C	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3671T>C	12.37:g.94673321T>C	ENSP00000258526:p.Val1224Ala					PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A|RP11-1105G2.3_ENST00000551941.1_Intron	p.V1224A	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			22	3920	+			1224					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3671T>C	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052600	0.55218	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.19105	2.17;2.17	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055194	0.64402	D	0.000001	T	0.39358	0.1075	L	0.55103	1.725	0.80722	D	1	B;D	0.76494	0.311;0.999	B;D	0.87578	0.104;0.998	T	0.06320	-1.0833	10	0.22706	T	0.39	.	13.9286	0.63978	0.0:0.0:0.0:1.0	.	271;1224	B4DHQ7;O60486	.;PLXC1_HUMAN	A	1224;271	ENSP00000258526:V1224A;ENSP00000446720:V271A	ENSP00000258526:V1224A	V	+	2	0	PLXNC1	93197452	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	5.330000	0.65899	2.219000	0.72066	0.533000	0.62120	GTT		0.408	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			56	228	0	0	0	1	0	56	228					C	94673321	T	C	94673321	3	2	79	1	0	0	0	0	1	0	0	0	12168	1725	60	4	3757	4	PLXNC1	12	94673321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	600695	94673321	39178574	13639	23956											
CCDC41	51134	broad.mit.edu	37	chr12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatacgctcatgaaGcttatgcttttcttccaacc	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		534					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1624-1626)Ctt>Att		coiled-coil domain containing 41							274	242	252					12																	94725559		1893	4116	6009	SO:0001583	missense	51134							g.chr12:94725559G>T																												ENST00000397809.5:c.1624C>A	12.37:g.94725559G>T	ENSP00000380911:p.Leu542Ile					CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	p.L542I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			14	2173	-			534					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1624C>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177979	0.38413	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.62105	1.98;1.98;1.98;0.05	5.79	3.96	0.45880	.	.	.	.	.	T	0.47746	0.1462	L	0.42245	1.32	0.32867	D	0.508704	B;B	0.31193	0.312;0.141	B;B	0.29524	0.103;0.028	T	0.51284	-0.8725	9	0.10902	T	0.67	-6.9572	8.4164	0.32674	0.2343:0.0:0.7657:0.0	.	509;534	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	I	6;542;542;509	ENSP00000447094:L6I;ENSP00000344655:L542I;ENSP00000380911:L542I;ENSP00000380909:L509I	ENSP00000344655:L542I	L	-	1	0	CCDC41	93249690	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.990000	0.40717	1.459000	0.47892	0.655000	0.94253	CTT		0.378	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			145	584	1	0	1.91924e-68	1	2.4338e-68	145	584					T	94725559	G	T	94725559	3	4	79	1	0	0	0	0	1	0	0	0	2820	971	34	3	497	3	CCDC41	12	94725559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52238	94725559	39126336	13640	23957											
TMCC3	57458	broad.mit.edu	37	chr12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttcttctgcagctgggCgatggagtgagctgatttct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	127						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(379-381)Gcc>Acc		transmembrane and coiled-coil domain family 3							102	95	97					12																	94976014		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94976014C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.379G>A	12.37:g.94976014C>T	ENSP00000261226:p.Ala127Thr					TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	p.A127T	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	510	-			127					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.379G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058467	0.76074	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.55413	0.78;0.78;0.52	5.74	4.83	0.62350	.	0.137360	0.64402	D	0.000003	T	0.49660	0.1570	M	0.76574	2.34	0.58432	D	0.999996	P	0.48089	0.905	B	0.37601	0.254	T	0.54860	-0.8230	10	0.37606	T	0.19	-18.7566	12.5217	0.56062	0.1326:0.7399:0.1275:0.0	.	127	Q9ULS5	TMCC3_HUMAN	T	127;96;96	ENSP00000261226:A127T;ENSP00000449888:A96T;ENSP00000450078:A96T	ENSP00000261226:A127T	A	-	1	0	TMCC3	93500145	0.998000	0.40836	0.794000	0.32065	0.973000	0.67179	3.773000	0.55333	1.528000	0.49103	0.561000	0.74099	GCC		0.483	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		79	337	0	0	0	1	0	79	337					T	94976014	C	T	94976014	3	4	79	1	0	0	0	0	1	0	0	0	16046	768	27	1	1066	1	TMCC3	12	94976014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250455	94976014	38875881	13641	23958											
TMCC3	57458	broad.mit.edu	37	chr12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atactccgcaacattcccatCgcgcgatgtttgctcaattt	6	13	1	0	rs141857063	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral component of membrane (GO:0016021)		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453													C|||	30	0.00599042	0.0015	0.0	5008	,	,		19454	0.004		0.0	False		,,,				2504	0.0245					ENST00000261226.4																			1	Substitution - Missense(1)	p.D90Y(1)	breast(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(268-270)Gat>Aat		transmembrane and coiled-coil domain family 3							199	185	190					12																	94976125		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94976125C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.268G>A	12.37:g.94976125C>T	ENSP00000261226:p.Asp90Asn					TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	p.D90N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	399	-			90					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.268G>A	CCDS31877.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	27.0	4.793782	0.90453	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.60171	0.21;0.21;0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.76035	-0.3106	10	0.52906	T	0.07	-25.4124	20.0555	0.97650	0.0:1.0:0.0:0.0	.	90	Q9ULS5	TMCC3_HUMAN	N	90;59;59	ENSP00000261226:D90N;ENSP00000449888:D59N;ENSP00000450078:D59N	ENSP00000261226:D90N	D	-	1	0	TMCC3	93500256	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	5.900000	0.69853	2.821000	0.97095	0.485000	0.47835	GAT		0.453	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		144	655	0	0	0	1	0	144	655					T	94976125	C	T	94976125	3	4	79	1	0	0	0	0	1	0	0	0	16046	884	31	1	1177	1	TMCC3	12	94976125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	94976125	38875770	13642	23959											
NR2C1	7181	broad.mit.edu	37	chr12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaattcttcagtgatggtaGcattcatcagtcttaaagct	7	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	562					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1684-1686)gCt>gAt		nuclear receptor subfamily 2, group C, member 1							205	218	213					12																	95416132		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95416132G>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1685C>A	12.37:g.95416132G>T	ENSP00000333275:p.Ala562Asp						p.A562D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			14	2015	-			562					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1685C>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988099	0.53934	.	.	ENSG00000120798	ENST00000333003	D	0.96651	-4.08	5.74	4.85	0.62838	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.145103	0.64402	D	0.000008	D	0.97810	0.9281	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97793	1.0239	10	0.44086	T	0.13	.	14.9741	0.71257	0.0686:0.0:0.9314:0.0	.	562	P13056	NR2C1_HUMAN	D	562	ENSP00000333275:A562D	ENSP00000333275:A562D	A	-	2	0	NR2C1	93940263	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.869000	0.99810	1.443000	0.47586	-0.156000	0.13503	GCT		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		172	849	1	0	3.62647e-66	1	4.58788e-66	172	849					T	95416132	G	T	95416132	3	4	79	1	0	0	0	0	1	0	0	0	10664	971	34	3	130	3	NR2C1	12	95416132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440007	95416132	38435763	13643	23960											
NR2C1	7181	broad.mit.edu	37	chr12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatacctggactgaagagtActattgccttcaggtaggca	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1516-1518)gTa>gCa		nuclear receptor subfamily 2, group C, member 1							106	95	99					12																	95422177		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95422177A>G	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1517T>C	12.37:g.95422177A>G	ENSP00000333275:p.Val506Ala						p.V506A	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			12	1847	-			506					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1517T>C	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297574	0.60086	.	.	ENSG00000120798	ENST00000333003	D	0.96716	-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055467	0.64402	D	0.000001	D	0.93112	0.7807	L	0.43554	1.36	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	D	0.89908	0.4049	10	0.46703	T	0.11	.	9.6208	0.39721	0.9215:0.0:0.0785:0.0	.	506	P13056	NR2C1_HUMAN	A	506	ENSP00000333275:V506A	ENSP00000333275:V506A	V	-	2	0	NR2C1	93946308	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.574000	0.82434	1.960000	0.56953	0.460000	0.39030	GTA		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		32	149	0	0	0	1	0	32	149					G	95422177	A	G	95422177	3	3	79	1	0	0	0	0	1	0	0	0	10664	391	14	4	306	4	NR2C1	12	95422177	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6045	95422177	38429718	13644	23961											
NR2C1	7181	broad.mit.edu	37	chr12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taattttcttctttctgttgAcattttatctttaattaaaa	2	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	468					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1402-1404)Tca>Aca		nuclear receptor subfamily 2, group C, member 1							91	86	88					12																	95422292		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95422292A>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1402T>A	12.37:g.95422292A>T	ENSP00000333275:p.Ser468Thr					NR2C1_ENST00000545833.1_Intron	p.S468T	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			12	1732	-			468					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1402T>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690083	0.48097	.	.	ENSG00000120798	ENST00000333003	D	0.96830	-4.14	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057030	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45581	1.43	0.80722	D	1	P	0.43938	0.822	B	0.42738	0.396	D	0.91549	0.5255	10	0.24483	T	0.36	.	10.1495	0.42784	0.9153:0.0:0.0847:0.0	.	468	P13056	NR2C1_HUMAN	T	468	ENSP00000333275:S468T	ENSP00000333275:S468T	S	-	1	0	NR2C1	93946423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.432000	0.59922	2.024000	0.59613	0.460000	0.39030	TCA		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		32	200	0	0	0	1	0	32	200					T	95422292	A	T	95422292	3	4	79	1	0	0	0	0	1	0	0	0	10664	275	10	5	421	5	NR2C1	12	95422292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115	95422292	38429603	13645	23962											
NR2C1	7181	broad.mit.edu	37	chr12	95453692	95453692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgttacctgatgctttGtctccacatactacgcaaag	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(352-354)gaC>gaT		nuclear receptor subfamily 2, group C, member 1							62	62	62					12																	95453692		2203	4298	6501	SO:0001819	synonymous_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95453692G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.354C>T	12.37:g.95453692G>A						NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	p.D118D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			4	684	-			118			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	c.354C>T	CCDS9051.1																																																																																				0.313	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		26	162	0	0	0	1	0	26	162					A	95453692	G	A	95453692	2	1	79	1	0	0	0	0	0	0	0	1	10664	1368	48	2		2	NR2C1	12	95453692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31400	95453692	38398203	13646	23963											
FGD6	55785	broad.mit.edu	37	chr12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatattttcatactccggtGcacagaggcttgtaacagac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATACTCCGGTGCACAGAGGCT	0.453																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2233-2235)gCa>gTa		FYVE, RhoGEF and PH domain containing 6							106	100	102					12																	95602826		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95602826G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2234C>T	12.37:g.95602826G>A	ENSP00000344446:p.Ala745Val					FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	2457	-			745					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2234C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485944	0.26686	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68903	-0.25;-0.36;-0.28	5.77	1.59	0.23543	.	0.284335	0.25296	N	0.031683	T	0.42562	0.1208	N	0.25647	0.755	0.09310	N	0.999995	B	0.15930	0.015	B	0.11329	0.006	T	0.11690	-1.0577	10	0.12103	T	0.63	-1.6594	2.7736	0.05341	0.2026:0.2271:0.459:0.1112	.	745	Q6ZV73	FGD6_HUMAN	V	745	ENSP00000344446:A745V;ENSP00000450342:A745V;ENSP00000449005:A745V	ENSP00000344446:A745V	A	-	2	0	FGD6	94126957	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.042000	0.12063	0.308000	0.22923	0.561000	0.74099	GCA		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		43	422	0	0	0	1	0	43	422					A	95602826	G	A	95602826	3	1	79	1	0	0	0	0	1	0	0	0	5862	1319	46	2	2138	2	FGD6	12	95602826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149134	95602826	38249069	13647	23964											
USP44	84101	broad.mit.edu	37	chr12	95922698	95922698	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcttttccactgcattgAtacctttctggaaactccaa	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	ENST00000258499.3	-	3	1797	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	503	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACTGCATTGATACCTTTCTG	0.378																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1507-1509)taT>taG		ubiquitin specific peptidase 44							81	78	79					12																	95922698		2203	4300	6503	SO:0001587	stop_gained	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95922698A>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1509T>G	12.37:g.95922698A>C	ENSP00000258499:p.Tyr503*					USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*	p.Y503*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			3	1797	-			503					B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	37	c.1509T>G	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	41	8.936076	0.99008	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.94	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1397	0.36897	0.3593:0.0:0.6407:0.0	.	.	.	.	X	503	.	ENSP00000258499:Y503X	Y	-	3	2	USP44	94446829	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.363000	0.34159	0.272000	0.22027	-0.366000	0.07423	TAT		0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		53	223	0	0	0	1	0	53	223					C	95922698	A	C	95922698	4	2	79	1	0	0	0	0	0	1	0	0	17129	340	12	4	645	4	USP44	12	95922698	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319872	95922698	37929197	13648	23965											
NTN4	59277	broad.mit.edu	37	chr12	96131853	96131853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggttggtgatcttcaGctgctcctgaactttggcac	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96131853G>T	ENST00000343702.4	-	3	1103	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000538383.1_Missense_Mutation_p.L182M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	219	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGATCTTCAGCTGCTCCTGA	0.448																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(655-657)Ctg>Atg		netrin 4							175	154	161					12																	96131853		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96131853G>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.655C>A	12.37:g.96131853G>T	ENSP00000340998:p.Leu219Met					NTN4_ENST00000538383.1_Missense_Mutation_p.L182M|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M	p.L219M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			3	1103	-			219			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.655C>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409995	0.62399	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.51	1.62	0.23740	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000004	D	0.85588	0.5731	M	0.79123	2.44	0.46725	D	0.999179	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.961	D	0.83708	0.0186	10	0.46703	T	0.11	.	10.7464	0.46183	0.3041:0.0:0.6959:0.0	.	219;219	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	219;182;182;219	ENSP00000340998:L219M;ENSP00000339436:L182M;ENSP00000444432:L182M;ENSP00000447292:L219M	ENSP00000340998:L219M	L	-	1	2	NTN4	94655984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.401000	0.44513	0.298000	0.22638	-0.228000	0.12330	CTG		0.448	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		26	593	1	0	1.1804e-14	1	1.28451e-14	26	593					T	96131853	G	T	96131853	3	4	79	1	0	0	0	0	1	0	0	0	10744	962	34	3	1263	3	NTN4	12	96131853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209155	96131853	37720042	13649	23966											
HAL	3034	broad.mit.edu	37	chr12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtttgagggtctccaggGaaatgccactgtatcctttg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000261208.3	-	9	1045	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000551562.1_5'Flank	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	226					biosynthetic process (GO:0009058)|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)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(676-678)tCc>tTc		histidine ammonia-lyase	L-Histidine(DB00117)						178	146	157					12																	96386496		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96386496G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.677C>T	12.37:g.96386496G>A	ENSP00000261208:p.Ser226Phe					HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000541929.1_Missense_Mutation_p.S18F	p.S226F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			9	1045	-			226					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.677C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637203	0.87760	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.79	4.79	0.61399	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.93769	0.7073	10	0.87932	D	0	-14.7048	17.8357	0.88696	0.0:0.0:1.0:0.0	.	226;226	F5GXF2;P42357	.;HUTH_HUMAN	F	226;18;226;214;136	ENSP00000261208:S226F;ENSP00000446364:S18F;ENSP00000440861:S226F;ENSP00000450372:S214F;ENSP00000447543:S136F	ENSP00000261208:S226F	S	-	2	0	HAL	94910627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.198000	0.70561	0.561000	0.74099	TCC		0.468	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			120	463	0	0	0	1	0	120	463					A	96386496	G	A	96386496	3	1	79	1	0	0	0	0	1	0	0	0	6977	1174	41	2	1348	2	HAL	12	96386496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254643	96386496	37465399	13650	23967											
LTA4H	4048	broad.mit.edu	37	chr12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaagtaaggcaaggattctCcatgccaccataagggaagg	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	272	Substrate binding.				arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	CAAGGATTCTCCATGCCACCA	0.398																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(814-816)Gag>Tag		leukotriene A4 hydrolase							71	64	67					12																	96412579		2203	4300	6503	SO:0001587	stop_gained	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412579C>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.814G>T	12.37:g.96412579C>A	ENSP00000228740:p.Glu272*					LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	p.E272*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			8	955	-			272			Substrate binding.		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Nonsense_Mutation	SNP	ENST00000228740.2	37	c.814G>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296889	0.98192	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.15	5.15	0.70609	.	0.044140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.386	18.9881	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	272;248;248	.	ENSP00000228740:E272X	E	-	1	0	LTA4H	94936710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.577000	0.86979	0.491000	0.48974	GAG		0.398	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		45	155	1	0	2.24722e-20	1	2.51766e-20	45	155					A	96412579	C	A	96412579	4	1	79	1	0	0	0	0	0	1	0	0	9107	864	30	3	1069	3	LTA4H	12	96412579	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26083	96412579	37439316	13651	23968											
LTA4H	4048	broad.mit.edu	37	chr12	96412999	96412999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctcagaccacaccaAagttcttgggccaatttgcc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	220					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GACCACACCAAAGTTCTTGGG	0.348																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(658-660)Ttg>Ctg		leukotriene A4 hydrolase							101	100	100					12																	96412999		2203	4300	6503	SO:0001819	synonymous_variant	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412999A>G	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.658T>C	12.37:g.96412999A>G						LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	p.L220L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			7	799	-			220					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	c.658T>C	CCDS9059.1																																																																																				0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		73	315	0	0	0	1	0	73	315					G	96412999	A	G	96412999	2	3	79	1	0	0	0	0	0	0	0	1	9107	11	1	4		4	LTA4H	12	96412999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420	96412999	37438896	13652	23969											
ELK3	2004	broad.mit.edu	37	chr12	96641197	96641197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctttaatgttgccaaaCgctgccagtatttcatccgc	6	13	2	0	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	229					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(685-687)aaC>aaT		ELK3, ETS-domain protein (SRF accessory protein 2)		C		0,4406		0,0,2203	70	80	77		687	-6.8	0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		229/408	96641197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641197C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.687C>T	12.37:g.96641197C>T						ELK3_ENST00000552142.1_Intron	p.N229N	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	1013	+	all_cancers(2;0.00173)		229					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.687C>T	CCDS9060.1																																																																																				0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		129	681	0	0	0	1	0	129	681					T	96641197	C	T	96641197	2	4	79	1	0	0	0	0	0	0	0	1	5078	535	19	1		1	ELK3	12	96641197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228198	96641197	37210698	13653	23970											
C12orf63	144535	broad.mit.edu	37	chr12	97147575	97147575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggaaggacccctcgaAgtggttacctgctcttcatc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97147575A>C	ENST00000524981.4	+	56	7762	c.7739A>C	c.(7738-7740)aAg>aCg	p.K2580T				Q96N23	CL055_HUMAN		0																	GACCCCTCGAAGTGGTTACCT	0.423																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3091-3093)aAg>aCg									126	120	122					12																	97147575		2203	4300	6503	SO:0001583	missense	0							g.chr12:97147575A>C																												ENST00000524981.4:c.7739A>C	12.37:g.97147575A>C	ENSP00000431759:p.Lys2580Thr						p.K1031T			Q6ZTY8	CL063_HUMAN			23	3092	+			1005						Missense_Mutation	SNP	ENST00000524981.4	37	c.3092A>C		.	.	.	.	.	.	.	.	.	.	A	14.26	2.483627	0.44147	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.77	4.77	0.60923	.	0.329749	0.28946	N	0.013636	T	0.39572	0.1083	L	0.60455	1.87	0.28229	N	0.926183	P	0.44429	0.835	B	0.41894	0.369	T	0.42799	-0.9430	9	0.46703	T	0.11	-6.1197	9.2436	0.37511	0.839:0.0:0.0:0.161	.	1005	Q6ZTY8	CL063_HUMAN	T	2580;1005	.	ENSP00000345466:K1005T	K	+	2	0	C12orf63	95671706	0.822000	0.29219	0.920000	0.36463	0.326000	0.28443	2.435000	0.44811	1.910000	0.55303	0.379000	0.24179	AAG		0.423	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			89	415	0	0	0	1	0	89	415					C	97147575	A	C	97147575	3	2	79	1	0	0	0	0	1	0	0	0	1711	72	3	4	3100	4	C12orf63	12	97147575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	506378	97147575	36704320	13654	23971											
C12orf63	144535	broad.mit.edu	37	chr12	97157959	97157959	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagaagtagttctgttaaaGaaacatcagcaaataaattt	7	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97157959G>A	ENST00000524981.4	+	59	8094	c.8071G>A	c.(8071-8073)Gaa>Aaa	p.E2691K				Q96N23	CL055_HUMAN		0																	TTCTGTTAAAGAAACATCAGC	0.333																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3424-3426)Gaa>Aaa									120	119	119					12																	97157959		2203	4300	6503	SO:0001583	missense	0							g.chr12:97157959G>A																												ENST00000524981.4:c.8071G>A	12.37:g.97157959G>A	ENSP00000431759:p.Glu2691Lys						p.E1142K			Q6ZTY8	CL063_HUMAN			26	3424	+			1116						Missense_Mutation	SNP	ENST00000524981.4	37	c.3424G>A		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718102	0.48622	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.38	5.38	0.77491	.	0.204668	0.33938	N	0.004418	T	0.51907	0.1702	L	0.56769	1.78	0.09310	N	0.999997	P	0.40731	0.728	B	0.43623	0.425	T	0.53479	-0.8433	9	0.56958	D	0.05	-12.0459	16.8994	0.86109	0.0:0.0:1.0:0.0	.	1116	Q6ZTY8	CL063_HUMAN	K	2691;1116	.	ENSP00000345466:E1116K	E	+	1	0	C12orf63	95682090	0.130000	0.22417	0.397000	0.26308	0.071000	0.16799	1.712000	0.37940	2.512000	0.84698	0.561000	0.74099	GAA		0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			21	135	0	0	0	1	0	21	135					A	97157959	G	A	97157959	3	1	79	1	0	0	0	0	1	0	0	0	1711	943	33	2	3444	2	C12orf63	12	97157959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10384	97157959	36693936	13655	23972											
NEDD1	121441	broad.mit.edu	37	chr12	97303532	97303532	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttaaactatttgtaggcGcagtcatgcaggaaaacctc	9	8	1	0	rs201249479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97303532G>A	ENST00000266742.4	+	0	334				NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Missense_Mutation_p.A6T|NEDD1_ENST00000429527.2_5'UTR|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000457368.2_5'Flank	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTGTAGGCGCAGTCATGCA	0.328																																						ENST00000557644.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(16-18)Gca>Aca		neural precursor cell expressed, developmentally down-regulated 1							73	71	72					12																	97303532		2203	4300	6503	SO:0001623	5_prime_UTR_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97303532G>A		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.-6G>A	12.37:g.97303532G>A						NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_5'UTR|NEDD1_ENST00000266742.4_5'UTR|NEDD1_ENST00000555114.1_Intron	p.A6T	NM_001135175.1	NP_001128647.1	Q8NHV4	NEDD1_HUMAN			2	162	+			0					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.16G>A	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727406	0.69074	.	.	ENSG00000139350	ENST00000554226;ENST00000557644	T;T	0.48836	1.07;0.8	5.46	3.28	0.37604	.	.	.	.	.	T	0.34861	0.0912	L	0.41236	1.265	0.80722	D	1	B	0.22346	0.068	B	0.21546	0.035	T	0.14839	-1.0458	9	0.52906	T	0.07	.	4.6055	0.12376	0.071:0.1276:0.4372:0.3641	.	6	G3V3F1	.	T	6	ENSP00000450881:A6T;ENSP00000451211:A6T	ENSP00000407964:A6T	A	+	1	0	NEDD1	95827663	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.710000	0.37920	0.433000	0.26313	0.561000	0.74099	GCA		0.328	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			54	215	0	0	0	1	0	54	215					A	97303532	G	A	97303532	1	1	79	0	1	0	0	0	0	0	0	0	10351	1087	38	1		1	NEDD1	12	97303532	5'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145573	97303532	36548363	13656	23973											
TMPO	7112	broad.mit.edu	37	chr12	98926730	98926730	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatctccacccgtcctcCtttgggcagtaccgaactac	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98926730C>A	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.P232H|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCCGTCCTCCTTTGGGCAGT	0.478																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(694-696)cCt>cAt		thymopoietin							78	83	81					12																	98926730		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98926730C>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1114C>A	12.37:g.98926730C>A						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron	p.P232H	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	933	+			0			NAKAP95-binding N.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.695C>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258862	0.59321	.	.	ENSG00000120802	ENST00000266732	T	0.49720	0.77	5.26	5.26	0.73747	.	0.249768	0.32736	N	0.005713	T	0.55305	0.1912	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59600	-0.7424	10	0.87932	D	0	.	14.725	0.69339	0.0:1.0:0.0:0.0	.	232	P42166	LAP2A_HUMAN	H	232	ENSP00000266732:P232H	ENSP00000266732:P232H	P	+	2	0	TMPO	97450861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.505000	0.53356	2.612000	0.88384	0.650000	0.86243	CCT		0.478	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		13	567	1	0	1.3612e-06	1	1.40558e-06	13	567					A	98926730	C	A	98926730	1	1	79	0	1	0	0	0	0	0	0	0	16289	681	24	3		3	TMPO	12	98926730	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1623198	98926730	34925165	13657	23974											
TMPO	7112	broad.mit.edu	37	chr12	98927591	98927591	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcactggcatgcaAatatccagtttcttccaggg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98927591A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.K519R|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGCATGCAAATATCCAGTT	0.413																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1555-1557)aAa>aGa		thymopoietin							49	53	52					12																	98927591		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927591A>G		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1975A>G	12.37:g.98927591A>G						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron	p.K519R	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1794	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1556A>G	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	1.291	-0.607591	0.03717	.	.	ENSG00000120802	ENST00000266732	T	0.55234	0.53	5.65	0.434	0.16539	.	0.623617	0.17133	N	0.185749	T	0.28466	0.0704	N	0.12182	0.205	0.51767	D	0.999932	B	0.15473	0.013	B	0.20955	0.032	T	0.13045	-1.0524	10	0.08381	T	0.77	-5.1403	10.0084	0.41970	0.7043:0.0:0.2957:0.0	.	519	P42166	LAP2A_HUMAN	R	519	ENSP00000266732:K519R	ENSP00000266732:K519R	K	+	2	0	TMPO	97451722	0.988000	0.35896	0.331000	0.25455	0.324000	0.28378	0.265000	0.18515	-0.348000	0.08286	-1.162000	0.01777	AAA		0.413	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		64	292	0	0	0	1	0	64	292					G	98927591	A	G	98927591	1	3	79	0	1	0	0	0	0	0	0	0	16289	14	1	4		4	TMPO	12	98927591	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861	98927591	34924304	13658	23975											
TMPO	7112	broad.mit.edu	37	chr12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacagtgctagttgccgcaGaccaatcaaaggggctgcag	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	365	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTTGCCGCAGACCAATCAAA	0.408																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1093-1095)aGa>aTa		thymopoietin							50	55	53					12																	98941365		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941365G>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1094G>T	12.37:g.98941365G>T	ENSP00000450627:p.Arg365Ile					TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000548223.1_3'UTR	p.R365I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			9	1450	+			365			Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1094G>T	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160451	0.78226	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.46;-0.54;-0.79;-1.47	5.35	5.35	0.76521	.	.	.	.	.	D	0.90103	0.6908	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	D	0.90623	0.4561	9	0.66056	D	0.02	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	289;365	Q59G12;P42167	.;LAP2B_HUMAN	I	365;325;256;200	ENSP00000450627:R365I;ENSP00000340251:R325I;ENSP00000376773:R256I;ENSP00000451552:R200I	ENSP00000340251:R365I	R	+	2	0	TMPO	97465496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.512000	0.67030	2.668000	0.90789	0.655000	0.94253	AGA		0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		57	256	1	0	2.53126e-37	1	3.03882e-37	57	256					T	98941365	G	T	98941365	3	4	79	1	0	0	0	0	1	0	0	0	16289	942	33	3	2652	3	TMPO	12	98941365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13774	98941365	34910530	13659	23976											
APAF1	317	broad.mit.edu	37	chr12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctaaagaccgtctccGcattctgatgcttcgcaaac	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000551964.1	+	5	1419	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	228	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(682-684)cGc>cAc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						95	93	94					12																	99053094		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99053094G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.683G>A	12.37:g.99053094G>A	ENSP00000448165:p.Arg228His					APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000551964.1_Missense_Mutation_p.R228H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H	p.R228H	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			5	1260	+			228			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.683G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819499	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	4.63	0.57726	NB-ARC (1);	0.049268	0.85682	D	0.000000	D	0.87075	0.6087	L	0.61218	1.895	0.80722	D	1	D;P;P;P;D	0.76494	0.974;0.474;0.803;0.938;0.999	B;B;B;B;D	0.71184	0.233;0.078;0.151;0.344;0.972	D	0.86685	0.1919	10	0.46703	T	0.11	-17.0243	14.7562	0.69567	0.0704:0.0:0.9296:0.0	.	228;228;217;228;217	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	H	228;217;228;228;228;228;217;228;228	ENSP00000448165:R228H;ENSP00000353059:R217H;ENSP00000349862:R228H;ENSP00000341830:R228H;ENSP00000334558:R228H;ENSP00000448826:R228H;ENSP00000448449:R217H;ENSP00000449791:R228H;ENSP00000448161:R228H	ENSP00000334558:R228H	R	+	2	0	APAF1	97577225	1.000000	0.71417	0.974000	0.42286	0.160000	0.22226	6.819000	0.75262	2.610000	0.88304	0.650000	0.86243	CGC		0.453	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		72	340	0	0	0	1	0	72	340					A	99053094	G	A	99053094	3	1	79	1	0	0	0	0	1	0	0	0	755	1087	38	1	697	1	APAF1	12	99053094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111729	99053094	34798801	13660	23977											
APAF1	317	broad.mit.edu	37	chr12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaggctctccccttgtaGtatctttaattggtgcactt	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000551964.1	+	8	1706	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	324	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(970-972)Gta>Ata		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107	115	112					12																	99059345		2202	4300	6502	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99059345G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.970G>A	12.37:g.99059345G>A	ENSP00000448165:p.Val324Ile					APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000551964.1_Missense_Mutation_p.V324I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000333991.1_Intron	p.V324I	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			8	1547	+			324			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.970G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567535	0.45694	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.96	4.07	0.47477	NB-ARC (1);	0.180815	0.47852	N	0.000204	T	0.59500	0.2198	N	0.04508	-0.205	0.80722	D	1	B;B;B;P	0.51537	0.008;0.001;0.016;0.946	B;B;B;P	0.48795	0.123;0.031;0.038;0.59	T	0.56294	-0.8003	10	0.10636	T	0.68	-22.9329	10.1916	0.43030	0.1753:0.0:0.8247:0.0	.	324;313;324;313	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	I	324;313;324;324;313;324;324	ENSP00000448165:V324I;ENSP00000353059:V313I;ENSP00000349862:V324I;ENSP00000341830:V324I;ENSP00000448449:V313I;ENSP00000449791:V324I;ENSP00000448161:V324I	ENSP00000341830:V324I	V	+	1	0	APAF1	97583476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.475000	0.60210	1.088000	0.41272	0.650000	0.86243	GTA		0.343	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		135	581	0	0	0	1	0	135	581					A	99059345	G	A	99059345	3	1	79	1	0	0	0	0	1	0	0	0	755	1029	36	2	996	2	APAF1	12	99059345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6251	99059345	34792550	13661	23978											
APAF1	317	broad.mit.edu	37	chr12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatagcaacctgctcagtgGataaaaaagtgaaggtagga	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000551964.1	+	14	2768	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	678					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2032-2034)Gat>Aat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						80	81	81					12																	99074166		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99074166G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2032G>A	12.37:g.99074166G>A	ENSP00000448165:p.Asp678Asn					APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000551964.1_Missense_Mutation_p.D678N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000333991.1_Intron	p.D678N	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			14	2609	+			678					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2032G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248336	0.95305	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.045251	0.85682	D	0.000000	D	0.95433	0.8517	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.996	D	0.95804	0.8835	10	0.87932	D	0	-8.12	19.3764	0.94512	0.0:0.0:1.0:0.0	.	678;678;667;678;667	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	678;667;678;678;667;678;678	ENSP00000448165:D678N;ENSP00000353059:D667N;ENSP00000349862:D678N;ENSP00000341830:D678N;ENSP00000448449:D667N;ENSP00000449791:D678N;ENSP00000448161:D678N	ENSP00000341830:D678N	D	+	1	0	APAF1	97598297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.582000	0.87167	0.591000	0.81541	GAT		0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		27	124	0	0	0	1	0	27	124					A	99074166	G	A	99074166	3	1	79	1	0	0	0	0	1	0	0	0	755	1174	41	2	2082	2	APAF1	12	99074166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14821	99074166	34777729	13662	23979											
ANKS1B	56899	broad.mit.edu	37	chr12	99548174	99548174	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggacagggcatctgggtcCtgtaagaggatgaagaggga	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000547776.2	-	15	2419		c.e15-1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532																																						ENST00000550693.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(97-99)Gga>Tga		ankyrin repeat and sterile alpha motif domain containing 1B							107	110	109					12																	99548174		1996	4158	6154	SO:0001630	splice_region_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99548174C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2420-1G>T	12.37:g.99548174C>A						ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547776.2_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*	p.G33*	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	350	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	807					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	c.97G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.761311|2.761311	0.49468|0.49468	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000547446;ENST00000550778|ENST00000549558;ENST00000550693;ENST00000549493;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|.	.|G	-|-	.|1	.|0	ANKS1B|ANKS1B	98072305|98072305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.450000|5.450000	0.66626|0.66626	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	.|GGA		0.532	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	Intron	55	197	1	0	2.73381e-35	1	3.26223e-35	55	197					A	99548174	C	A	99548174	5	1	79	1	0	0	0	0	0	0	1	0	689	695	24	3	1566	3	ANKS1B	12	99548174	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474008	99548174	34303721	13663	23980											
ANKS1B	56899	broad.mit.edu	37	chr12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttacctggggtcgaaTgacttttacaatatttttga	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	522						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1564-1566)Att>Gtt		ankyrin repeat and sterile alpha motif domain containing 1B							153	148	150					12																	99837462		1887	4109	5996	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837462T>C	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1564A>G	12.37:g.99837462T>C	ENSP00000449629:p.Ile522Val					ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V	p.I522V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1563	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	522					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1564A>G	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61627	0.87;0.09;0.87;0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56968	0.978;0.948;0.803	D;D;P	0.70227	0.968;0.949;0.847	T	0.65372	-0.6184	9	.	.	.	-11.2955	15.1596	0.72771	0.0:0.0:0.0:1.0	.	488;102;522	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	V	522;102;522;101;488	ENSP00000449629:I522V;ENSP00000448512:I102V;ENSP00000331381:I522V;ENSP00000449894:I488V	.	I	-	1	0	ANKS1B	98361593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.759000	0.74934	2.317000	0.78254	0.460000	0.39030	ATT		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		38	239	0	0	0	1	0	38	239					C	99837462	T	C	99837462	3	2	79	1	0	0	0	0	1	0	0	0	689	1464	51	4	2534	4	ANKS1B	12	99837462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	289288	99837462	34014433	13664	23981											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accataattctgtaggtttgCaccagcattcacactttctg	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1162										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						TGTAGGTTTGCACCAGCATTC	0.353																																						ENST00000279907.7																			0				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						c.(3484-3486)Gca>Aca		UHRF1 binding protein 1-like							130	121	124					12																	100444940		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100444940C>T		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.3484G>A	12.37:g.100444940C>T	ENSP00000279907:p.Ala1162Thr					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	p.A1162T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			16	3696	-			1162					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3484G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147265	0.09134	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.96;2.96	5.03	1.85	0.25348	.	1.509740	0.03722	N	0.252075	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	B	0.18863	0.031	B	0.18263	0.021	T	0.38693	-0.9649	10	0.16420	T	0.52	-0.7108	5.7213	0.17988	0.1524:0.6682:0.0:0.1793	.	1162	A0JNW5	UH1BL_HUMAN	T	1162;812	ENSP00000279907:A1162T;ENSP00000444824:A812T	ENSP00000279907:A1162T	A	-	1	0	UHRF1BP1L	98969071	0.030000	0.19436	0.011000	0.14972	0.009000	0.06853	1.106000	0.31098	0.457000	0.26962	-0.355000	0.07637	GCA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		89	318	0	0	0	1	0	89	318					T	100444940	C	T	100444940	3	4	79	1	0	0	0	0	1	0	0	0	17023	710	25	2	934	2	UHRF1BP1L	12	100444940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607478	100444940	33406955	13665	23982											
DEPDC4	120863	broad.mit.edu	37	chr12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatgaaaacaaattaccttCttttgaaagccggagaaaag	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	233					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338																																						ENST00000416321.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						c.(697-699)Gaa>Aaa		DEP domain containing 4							76	75	75					12																	100656045		2203	4299	6502	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100656045C>T	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.697G>A	12.37:g.100656045C>T	ENSP00000396234:p.Glu233Lys						p.E233K	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN			3	699	-			233					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.697G>A	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693806	0.15039	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.35789	1.33;1.29;1.6;1.34	4.36	3.34	0.38264	.	1.536140	0.05008	N	0.470470	T	0.18467	0.0443	N	0.04203	-0.255	0.24219	N	0.995446	B;B;B;B	0.18310	0.0;0.0;0.027;0.004	B;B;B;B	0.13407	0.001;0.001;0.009;0.003	T	0.22417	-1.0217	10	0.27785	T	0.31	.	5.0182	0.14347	0.0:0.6158:0.0:0.3842	.	233;233;166;233	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	K	233;166;233;233;166;226	ENSP00000396234:E233K;ENSP00000448385:E233K;ENSP00000448338:E166K;ENSP00000449590:E226K	ENSP00000367490:E233K	E	-	1	0	DEPDC4	99180176	0.999000	0.42202	0.994000	0.49952	0.900000	0.52787	0.369000	0.20416	0.678000	0.31325	0.514000	0.50259	GAA		0.338	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		46	192	0	0	0	1	0	46	192					T	100656045	C	T	100656045	3	4	79	1	0	0	0	0	1	0	0	0	4457	922	32	2	199	2	DEPDC4	12	100656045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211105	100656045	33195850	13666	23983											
SCYL2	55681	broad.mit.edu	37	chr12	100707216	100707216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atagttgagtcgtttaggatCtagttcacttacaaatatac	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100707216C>A	ENST00000360820.2	+	7	1306	c.869C>A	c.(868-870)tCt>tAt	p.S290Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CGTTTAGGATCTAGTTCACTT	0.294																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(868-870)tCt>tAt		SCY1-like 2 (S. cerevisiae)							73	65	68					12																	100707216		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100707216C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.869C>A	12.37:g.100707216C>A	ENSP00000354061:p.Ser290Tyr						p.S290Y	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			7	1306	+			290			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.869C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.279	0.419668	0.11928	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.73575	-0.76;-0.76	5.87	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.165039	0.56097	D	0.000031	T	0.68778	0.3038	L	0.58810	1.83	0.54753	D	0.999986	B	0.20164	0.042	B	0.23018	0.043	T	0.64984	-0.6278	10	0.02654	T	1	.	17.2775	0.87120	0.0:0.8745:0.1255:0.0	.	290	Q6P3W7	SCYL2_HUMAN	Y	290;117;290	ENSP00000448366:S290Y;ENSP00000354061:S290Y	ENSP00000258506:S117Y	S	+	2	0	SCYL2	99231347	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	1.507000	0.48752	-0.196000	0.12772	TCT		0.294	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		6	213	1	0	0.00116845	1	0.00118049	6	213					A	100707216	C	A	100707216	3	1	79	1	0	0	0	0	1	0	0	0	13998	913	32	3	891	3	SCYL2	12	100707216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51171	100707216	33144679	13667	23984											
SCYL2	55681	broad.mit.edu	37	chr12	100723037	100723037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccaaagagcagctggcCggaaaagtgttgcctcatct	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	567					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1699-1701)gcC>gcT		SCY1-like 2 (S. cerevisiae)							78	84	82					12																	100723037		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100723037C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1701C>T	12.37:g.100723037C>T							p.A567A	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			13	2138	+			567					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1701C>T	CCDS9076.1																																																																																				0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		65	294	0	0	0	1	0	65	294					T	100723037	C	T	100723037	2	4	79	1	0	0	0	0	0	0	0	1	13998	639	23	1		1	SCYL2	12	100723037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15821	100723037	33128858	13668	23985											
SLC17A8	246213	broad.mit.edu	37	chr12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgtacctattggaggaCaattggctgattatttaaga	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	372					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1114-1116)Caa>Taa		solute carrier family 17 (vesicular glutamate transporter), member 8							118	116	117					12																	100797876		2203	4300	6503	SO:0001587	stop_gained	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797876C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1114C>T	12.37:g.100797876C>T	ENSP00000316909:p.Gln372*					SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*	p.Q372*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			9	1427	+			372					B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.1114C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261472	0.97421	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	.	.	.	X	372;322	.	ENSP00000316909:Q372X	Q	+	1	0	SLC17A8	99322007	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	CAA		0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		67	262	0	0	0	1	0	67	262					T	100797876	C	T	100797876	4	4	79	1	0	0	0	0	0	1	0	0	14473	479	17	2	1148	2	SLC17A8	12	100797876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	100797876	33054019	13669	23986											
SLC17A8	246213	broad.mit.edu	37	chr12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttctggtacttgctgtaGgatttagtggcttcgctatt	10	8	1	0	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1273-1275)Gga>Tga		solute carrier family 17 (vesicular glutamate transporter), member 8							298	266	277					12																	100806634		2203	4300	6503	SO:0001587	stop_gained	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100806634G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1273G>T	12.37:g.100806634G>T	ENSP00000316909:p.Gly425*					SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	p.G425*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			10	1586	+			425					B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.1273G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280373	0.98182	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375	.	ENSP00000316909:G425X	G	+	1	0	SLC17A8	99330765	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.752000	0.94435	0.655000	0.94253	GGA		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		91	522	1	0	1.43847e-43	1	1.75646e-43	91	522					T	100806634	G	T	100806634	4	4	79	1	0	0	0	0	0	1	0	0	14473	1001	35	3	1311	3	SLC17A8	12	100806634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8758	100806634	33045261	13670	23987											
NR1H4	9971	broad.mit.edu	37	chr12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaattcacaaaaaagctaCcaggtattttttaaataatc	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000551379.1	+	6	986	c.958C>A	c.(958-960)Cca>Aca	p.P320T	NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000548884.1_Missense_Mutation_p.P306T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	320	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAAAAAGCTACCAGGTATTTT	0.284																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(916-918)Cca>Aca		nuclear receptor subfamily 1, group H, member 4							53	64	60					12																	100930822		2183	4278	6461	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100930822C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.958C>A	12.37:g.100930822C>A	ENSP00000447149:p.Pro320Thr					NR1H4_ENST00000551379.1_Missense_Mutation_p.P320T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T	p.P306T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			8	1457	+			320			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.916C>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773555	0.69992	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.90705	3.14	0.80722	D	1	P;P;P;P;P	0.49185	0.764;0.92;0.597;0.649;0.919	B;P;B;B;P	0.61533	0.294;0.89;0.228;0.317;0.69	D	0.98789	1.0735	10	0.87932	D	0	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	259;320;316;310;306	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	306;310;259;320;316	ENSP00000448506:P306T;ENSP00000376712:P310T;ENSP00000448978:P259T;ENSP00000447149:P320T;ENSP00000188403:P316T	ENSP00000188403:P316T	P	+	1	0	NR1H4	99454953	1.000000	0.71417	0.964000	0.40570	0.555000	0.35460	7.190000	0.77755	2.318000	0.78349	0.585000	0.79938	CCA		0.284	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		89	445	1	0	1.55023e-36	1	1.85648e-36	89	445					A	100930822	C	A	100930822	3	1	79	1	0	0	0	0	1	0	0	0	10661	507	18	3	938	3	NR1H4	12	100930822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124188	100930822	32921073	13671	23988											
GAS2L3	283431	broad.mit.edu	37	chr12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttgtagttgttctcatcGattttctattgagtatttat	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000539410.1	+	8	1078	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(379-381)cGa>cAa		growth arrest-specific 2 like 3							129	129	129					12																	101016096		2203	4299	6502	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101016096G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>A	12.37:g.101016096G>A	ENSP00000439672:p.Arg231Gln					GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231Q	p.R127Q			Q86XJ1	GA2L3_HUMAN			9	1334	+			231			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.380G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870349	0.51588	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.02;2.0	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.22475	0.0542	N	0.05158	-0.105	0.31358	N	0.681691	D	0.56287	0.975	P	0.57283	0.817	T	0.10753	-1.0616	10	0.17369	T	0.5	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	Q	231;231;127;231	ENSP00000266754:R231Q;ENSP00000448955:R231Q;ENSP00000442406:R127Q;ENSP00000439672:R231Q	ENSP00000266754:R231Q	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		54	186	0	0	0	1	0	54	186					A	101016096	G	A	101016096	3	1	79	1	0	0	0	0	1	0	0	0	6276	1058	37	1	718	1	GAS2L3	12	101016096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85274	101016096	32835799	13672	23989											
GAS2L3	283431	broad.mit.edu	37	chr12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttgccacattagaacaaAaaattttagcatttcaaaaa	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000539410.1	+	9	1257	c.871A>C	c.(871-873)Aaa>Caa	p.K291Q	GAS2L3_ENST00000537247.1_Missense_Mutation_p.K187Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	291					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(559-561)Aaa>Caa		growth arrest-specific 2 like 3							79	82	81					12																	101017454		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017454A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.871A>C	12.37:g.101017454A>C	ENSP00000439672:p.Lys291Gln					GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K291Q	p.K187Q			Q86XJ1	GA2L3_HUMAN			10	1513	+			291					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.559A>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602846	0.87157	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.72;1.72;1.77;1.72	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.116335	0.64402	D	0.000017	T	0.50411	0.1614	M	0.69823	2.125	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.41790	T	0.15	-19.3779	15.5533	0.76170	1.0:0.0:0.0:0.0	.	291	Q86XJ1	GA2L3_HUMAN	Q	291;291;187;291	ENSP00000266754:K291Q;ENSP00000448955:K291Q;ENSP00000442406:K187Q;ENSP00000439672:K291Q	ENSP00000266754:K291Q	K	+	1	0	GAS2L3	99541585	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.886000	0.92447	2.087000	0.62958	0.533000	0.62120	AAA		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		100	418	0	0	0	1	0	100	418					C	101017454	A	C	101017454	3	2	79	1	0	0	0	0	1	0	0	0	6276	15	1	4	901	4	GAS2L3	12	101017454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1358	101017454	32834441	13673	23990											
GAS2L3	283431	broad.mit.edu	37	chr12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattcgcctgccagaAcacctcagcctcctgaaatg	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000539410.1	+	9	1317	c.931A>C	c.(931-933)Aca>Cca	p.T311P	GAS2L3_ENST00000537247.1_Missense_Mutation_p.T207P|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	311					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(619-621)Aca>Cca		growth arrest-specific 2 like 3							51	53	53					12																	101017514		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017514A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.931A>C	12.37:g.101017514A>C	ENSP00000439672:p.Thr311Pro					GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T311P	p.T207P			Q86XJ1	GA2L3_HUMAN			10	1573	+			311					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.619A>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066624	0.36470	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26518	1.76;1.76;1.73;1.76	5.71	3.21	0.36854	.	0.419651	0.27189	N	0.020505	T	0.22244	0.0536	L	0.54323	1.7	0.34191	D	0.672037	B	0.17038	0.02	B	0.17722	0.019	T	0.18147	-1.0346	10	0.29301	T	0.29	-10.0264	8.3763	0.32445	0.7994:0.1318:0.0688:0.0	.	311	Q86XJ1	GA2L3_HUMAN	P	311;311;207;311	ENSP00000266754:T311P;ENSP00000448955:T311P;ENSP00000442406:T207P;ENSP00000439672:T311P	ENSP00000266754:T311P	T	+	1	0	GAS2L3	99541645	0.984000	0.35163	1.000000	0.80357	0.784000	0.44337	1.268000	0.33062	0.987000	0.38709	0.533000	0.62120	ACA		0.383	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		33	368	0	0	0	1	0	33	368					C	101017514	A	C	101017514	3	2	79	1	0	0	0	0	1	0	0	0	6276	43	2	4	961	4	GAS2L3	12	101017514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	101017514	32834381	13674	23991											
ANO4	121601	broad.mit.edu	37	chr12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactaatggaaaaaccaaagTcttccacccaggtgatgcat	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392977.3	+	2	254	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392979.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	15					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V15D(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.V15D(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(43-45)gTc>gGc		anoctamin 4							95	93	94					12																	101295607		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101295607T>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.44T>G	12.37:g.101295607T>G	ENSP00000376703:p.Val15Gly	HNSCC(74;0.22)				ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392977.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR	p.V15G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			2	405	+			15					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.44T>G		.	.	.	.	.	.	.	.	.	.	T	17.67	3.447952	0.63178	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;0.95;-0.48	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60663	0.2286	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.14023	0.004;0.01	T	0.56619	-0.7949	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	181;15;15	ENSP00000443751:V181G;ENSP00000376705:V15G;ENSP00000376703:V15G	ENSP00000376703:V15G	V	+	2	0	ANO4	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC		0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		101	456	0	0	0	1	0	101	456					G	101295607	T	G	101295607	3	3	79	1	0	0	0	0	1	0	0	0	699	1667	58	4	46	4	ANO4	12	101295607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	278093	101295607	32556288	13675	23992											
ANO4	121601	broad.mit.edu	37	chr12	101336210	101336210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcgagatggaaagtgtcGaattgactacatccttgtgt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101336210G>A	ENST00000392977.3	+	5	563	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	ANO4_ENST00000538618.1_Missense_Mutation_p.R284Q|ANO4_ENST00000392979.3_Missense_Mutation_p.R83Q|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	118					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R83L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAAAGTGTCGAATTGACTAC	0.378										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.R83L(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(247-249)cGa>cAa		anoctamin 4							139	142	141					12																	101336210		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101336210G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.353G>A	12.37:g.101336210G>A	ENSP00000376703:p.Arg118Gln	HNSCC(74;0.22)				ANO4_ENST00000538618.1_Missense_Mutation_p.R284Q|ANO4_ENST00000392977.3_Missense_Mutation_p.R118Q|ANO4_ENST00000299222.9_5'UTR	p.R83Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			4	609	+			118					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.248G>A		.	.	.	.	.	.	.	.	.	.	G	29.1	4.976990	0.92982	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.48201	0.82;0.82;0.82	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000005	T	0.63331	0.2502	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.961;0.997	T	0.58624	-0.7604	10	0.37606	T	0.19	.	19.6214	0.95658	0.0:0.0:1.0:0.0	.	118;83	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	284;83;118	ENSP00000443751:R284Q;ENSP00000376705:R83Q;ENSP00000376703:R118Q	ENSP00000376703:R118Q	R	+	2	0	ANO4	99860341	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.869000	0.75521	2.644000	0.89710	0.655000	0.94253	CGA		0.378	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		13	750	0	0	0	1	0	13	750					A	101336210	G	A	101336210	3	1	79	1	0	0	0	0	1	0	0	0	699	1058	37	1	258	1	ANO4	12	101336210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40603	101336210	32515685	13676	23993											
ANO4	121601	broad.mit.edu	37	chr12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttgcctggttgggctgGtacaccggcatgctcttccc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392977.3	+	12	1278	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	ANO4_ENST00000392979.3_Nonsense_Mutation_p.W321*|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	356					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTGGGCTGGTACACCGGCA	0.483										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(961-963)tgG>tgA		anoctamin 4							178	156	163					12																	101436160		2203	4300	6503	SO:0001587	stop_gained	121601					chloride channel complex	chloride channel activity	g.chr12:101436160G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1068G>A	12.37:g.101436160G>A	ENSP00000376703:p.Trp356*	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Nonsense_Mutation_p.W356*|ANO4_ENST00000299222.9_5'UTR	p.W321*	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			11	1324	+			356					Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37	c.963G>A		.	.	.	.	.	.	.	.	.	.	G	40	8.414798	0.98801	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356	.	ENSP00000376703:W356X	W	+	3	0	ANO4	99960291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		64	245	0	0	0	1	0	64	245					A	101436160	G	A	101436160	4	1	79	1	0	0	0	0	0	1	0	0	699	1270	44	2	1001	2	ANO4	12	101436160	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99950	101436160	32415735	13677	23994											
SLC5A8	160728	broad.mit.edu	37	chr12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatcagaccaacaagtgCtccctgtaaaacaagaatgc	7	12	1	2	rs372017110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1324-1326)Gca>Tca		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							63	57	59					12																	101560474		2203	4300	6503	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.chr12:101560474C>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.1324G>T	12.37:g.101560474C>A	ENSP00000445340:p.Ala442Ser						p.A442S	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			12	1882	-			442						Missense_Mutation	SNP	ENST00000536262.2	37	c.1324G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449801	0.43531	.	.	ENSG00000256870	ENST00000536262	D	0.95447	-3.71	5.54	3.61	0.41365	.	0.125811	0.53938	D	0.000060	D	0.95667	0.8591	M	0.91459	3.21	0.54753	D	0.999986	B	0.30686	0.29	B	0.34931	0.192	D	0.94865	0.8025	10	0.56958	D	0.05	.	9.3499	0.38131	0.1436:0.7793:0.0:0.0771	.	442	Q8N695	SC5A8_HUMAN	S	442	ENSP00000445340:A442S	ENSP00000445340:A442S	A	-	1	0	SLC5A8	100084605	1.000000	0.71417	0.987000	0.45799	0.597000	0.36814	3.542000	0.53625	1.338000	0.45544	-0.150000	0.13652	GCA		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		15	93	1	0	5.01169e-05	1	5.1097e-05	15	93					A	101560474	C	A	101560474	3	1	79	1	0	0	0	0	1	0	0	0	14721	797	28	3	524	3	SLC5A8	12	101560474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124314	101560474	32291421	13678	23995											
SLC5A8	160728	broad.mit.edu	37	chr12	101576692	101576692	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatactggaggacactgTgctgtaagggaaaataaaac	10	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e9-1		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							87	82	83					12																	101576692		2203	4300	6503	SO:0001630	splice_region_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576692T>C	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.1053-1A>G	12.37:g.101576692T>C							p.T352_splice	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			9	1612	-			352						Splice_Site	SNP	ENST00000536262.2	37	c.1052_splice	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774384	0.90108	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96282	0.9207	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.0:0.0:1.0	.	352	Q8N695	SC5A8_HUMAN	A	352	ENSP00000445340:T352A	ENSP00000445340:T352A	T	-	1	0	SLC5A8	100100823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.972000	0.88022	2.134000	0.65973	0.528000	0.53228	ACA		0.348	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	Missense_Mutation	29	255	0	0	0	1	0	29	255					C	101576692	T	C	101576692	5	2	79	1	0	0	0	0	0	0	1	0	14721	1710	59	4	806	4	SLC5A8	12	101576692	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16218	101576692	32275203	13679	23996											
SLC5A8	160728	broad.mit.edu	37	chr12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacaccgtagatgctggtCcatgtgaaggtccctcctat	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(757-759)tgG>tgA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							143	138	139					12																	101584320		2203	4300	6503	SO:0001587	stop_gained	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584320C>T	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.759G>A	12.37:g.101584320C>T	ENSP00000445340:p.Trp253*						p.W253*	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			6	1317	-			253						Nonsense_Mutation	SNP	ENST00000536262.2	37	c.759G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.821964	0.98966	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3842	0.74684	0.0:0.932:0.0:0.068	.	.	.	.	X	253	.	ENSP00000445340:W253X	W	-	3	0	SLC5A8	100108451	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.754000	0.68743	2.774000	0.95407	0.585000	0.79938	TGG		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		109	432	0	0	0	1	0	109	432					T	101584320	C	T	101584320	4	4	79	1	0	0	0	0	0	1	0	0	14721	856	30	2	1113	2	SLC5A8	12	101584320	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7628	101584320	32267575	13680	23997											
UTP20	27340	broad.mit.edu	37	chr12	101684568	101684568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaacagaaactcaactaCcatggatgttaattggagaa	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101684568C>A	ENST00000261637.4	+	8	967	c.793C>A	c.(793-795)Cca>Aca	p.P265T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	265					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTCAACTACCATGGATGTT	0.353																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(793-795)Cca>Aca		UTP20, small subunit (SSU) processome component, homolog (yeast)							138	127	131					12																	101684568		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101684568C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.793C>A	12.37:g.101684568C>A	ENSP00000261637:p.Pro265Thr						p.P265T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			8	967	+			265					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.793C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141487	0.57044	.	.	ENSG00000120800	ENST00000261637	T	0.63580	-0.05	5.36	4.47	0.54385	Armadillo-type fold (1);	0.059656	0.64402	D	0.000002	T	0.69351	0.3101	M	0.71581	2.175	0.58432	D	0.999992	D	0.53885	0.963	P	0.53593	0.73	T	0.67245	-0.5719	10	0.19147	T	0.46	-6.2862	13.8148	0.63285	0.0:0.9266:0.0:0.0734	.	265	O75691	UTP20_HUMAN	T	265	ENSP00000261637:P265T	ENSP00000261637:P265T	P	+	1	0	UTP20	100208699	1.000000	0.71417	0.914000	0.36105	0.261000	0.26267	5.055000	0.64282	1.266000	0.44231	0.650000	0.86243	CCA		0.353	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		8	431	1	0	0.000157383	1	0.000159814	8	431					A	101684568	C	A	101684568	3	1	79	1	0	0	0	0	1	0	0	0	17153	507	18	3	823	3	UTP20	12	101684568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100248	101684568	32167327	13681	23998											
UTP20	27340	broad.mit.edu	37	chr12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatatattgtgaattgCttcttaattgatgatgctgt	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	430					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTGAATTGCTTCTTAATTG	0.373																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1288-1290)tgC>tgA		UTP20, small subunit (SSU) processome component, homolog (yeast)							48	45	46					12																	101689296		2203	4300	6503	SO:0001587	stop_gained	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101689296C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1290C>A	12.37:g.101689296C>A	ENSP00000261637:p.Cys430*						p.C430*	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			12	1464	+			430					Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	37	c.1290C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824714	0.96989	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.06	5.06	0.68205	.	0.250704	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3695	18.4532	0.90711	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261637:C430X	C	+	3	2	UTP20	100213427	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.366000	0.44204	2.354000	0.79902	0.650000	0.86243	TGC		0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	99	1	0	2.08457e-15	1	2.27777e-15	30	99					A	101689296	C	A	101689296	4	1	79	1	0	0	0	0	0	1	0	0	17153	805	28	3	1336	3	UTP20	12	101689296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	101689296	32162599	13682	23999											
UTP20	27340	broad.mit.edu	37	chr12	101731892	101731892	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatcctgaccaatgtTtttgcaattctctcagcgaa	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1235					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGACCAATGTTTTTGCAATTC	0.408																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3703-3705)gtT>gtG		UTP20, small subunit (SSU) processome component, homolog (yeast)							135	135	135					12																	101731892		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101731892T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3705T>G	12.37:g.101731892T>G							p.V1235V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			30	3879	+			1235					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.3705T>G	CCDS9081.1																																																																																				0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	435	0	0	0	1	0	10	435					G	101731892	T	G	101731892	2	3	79	1	0	0	0	0	0	0	0	1	17153	1828	64	4		4	UTP20	12	101731892	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42596	101731892	32120003	13683	24000											
UTP20	27340	broad.mit.edu	37	chr12	101760367	101760367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccagcaccagatccacgtCtaccaccccagagctgcctt	6	20	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2053					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGATCCACGTCTACCACCCCA	0.502																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6157-6159)Cta>Tta		UTP20, small subunit (SSU) processome component, homolog (yeast)							181	156	165					12																	101760367		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760367C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6157C>T	12.37:g.101760367C>T							p.L2053L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			47	6331	+			2053					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6157C>T	CCDS9081.1																																																																																				0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		117	579	0	0	0	1	0	117	579					T	101760367	C	T	101760367	2	4	79	1	0	0	0	0	0	0	0	1	17153	912	32	2		2	UTP20	12	101760367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28475	101760367	32091528	13684	24001											
MYBPC1	4604	broad.mit.edu	37	chr12	102040565	102040565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgaacacaaaggatgCcagagaatcctgtttatcaa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000550270.1	+	11	915	c.915C>T	c.(913-915)tgC>tgT	p.C305C	MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000549145.1_Silent_p.C318C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000553190.1_Silent_p.C305C|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000541119.1_Silent_p.C293C|MYBPC1_ENST00000361466.2_Silent_p.C330C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	305	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAAGGATGCCAGAGAATCC	0.363																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(952-954)tgC>tgT		myosin binding protein C, slow type							89	86	87					12																	102040565		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102040565C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.915C>T	12.37:g.102040565C>T						MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.C305C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000547405.1_Silent_p.C279C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000541119.1_Silent_p.C293C	p.C318C			Q00872	MYPC1_HUMAN			12	1054	+			305			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.954C>T	CCDS9085.1																																																																																				0.363	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			40	198	0	0	0	1	0	40	198					T	102040565	C	T	102040565	2	4	79	1	0	0	0	0	0	0	0	1	10052	747	26	2		2	MYBPC1	12	102040565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280198	102040565	31811330	13685	24002											
MYBPC1	4604	broad.mit.edu	37	chr12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcccagtatgccctccaGgccttttgttcctttgggta	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000550270.1	+	19	2129	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R723M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	710	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGCCCTCCAGGCCTTTTGTT	0.473																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2167-2169)aGg>aTg		myosin binding protein C, slow type							113	106	108					12																	102056307		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102056307G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2129G>T	12.37:g.102056307G>T	ENSP00000449702:p.Arg710Met					MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M	p.R723M			Q00872	MYPC1_HUMAN			20	2268	+			710			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2168G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549241	0.45383	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.01	-1.08	0.09936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491893	0.18148	N	0.150193	T	0.46328	0.1387	N	0.25992	0.78	0.32516	N	0.536896	P;P;B;B;B;B;P;B;P;P	0.38767	0.489;0.646;0.239;0.335;0.335;0.228;0.465;0.335;0.623;0.465	B;B;B;B;B;B;P;B;B;P	0.48189	0.375;0.305;0.139;0.264;0.367;0.192;0.501;0.367;0.353;0.57	T	0.57952	-0.7722	10	0.87932	D	0	.	10.9076	0.47088	0.6988:0.0:0.3012:0.0	.	691;698;710;710;697;684;710;710;735;735	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	684;710;710;710;697;696;735;723;710;735;710;691;698;735;611;710	ENSP00000448175:R684M;ENSP00000400908:R710M;ENSP00000388989:R710M;ENSP00000353822:R710M;ENSP00000376665:R697M;ENSP00000447362:R696M;ENSP00000354845:R735M;ENSP00000447660:R723M;ENSP00000447900:R710M;ENSP00000440034:R710M;ENSP00000446128:R691M;ENSP00000442847:R698M;ENSP00000354849:R735M;ENSP00000447116:R611M;ENSP00000449702:R710M	ENSP00000353822:R710M	R	+	2	0	MYBPC1	100580438	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.420000	0.44679	-0.348000	0.08286	-0.300000	0.09419	AGG		0.473	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			86	307	1	0	1.55023e-36	1	1.85648e-36	86	307					T	102056307	G	T	102056307	3	4	79	1	0	0	0	0	1	0	0	0	10052	1000	35	3	2286	3	MYBPC1	12	102056307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15742	102056307	31795588	13686	24003											
MYBPC1	4604	broad.mit.edu	37	chr12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaataaacattcgcaacTctgagactgatacaatcata	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000550270.1	+	24	2668	c.2668T>G	c.(2668-2670)Tct>Gct	p.S890A	MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000549145.1_Missense_Mutation_p.S903A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	890	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTCGCAACTCTGAGACTGA	0.383																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2707-2709)Tct>Gct		myosin binding protein C, slow type							143	153	150					12																	102067280		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067280T>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2668T>G	12.37:g.102067280T>G	ENSP00000449702:p.Ser890Ala					MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A	p.S903A			Q00872	MYPC1_HUMAN			25	2807	+			890			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2707T>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818772	0.50633	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144208	0.32287	N	0.006318	T	0.78761	0.4334	M	0.79123	2.44	0.38230	D	0.941003	B;B;B;B;B;B;B;B;B;B	0.24317	0.006;0.051;0.101;0.025;0.013;0.089;0.023;0.028;0.094;0.004	B;B;P;B;B;P;B;B;B;B	0.48598	0.102;0.361;0.583;0.261;0.159;0.583;0.247;0.428;0.302;0.111	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6098	0.39657	0.2618:0.0:0.0:0.7382	.	853;860;890;872;859;846;872;890;897;897	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	846;890;890;890;859;858;897;903;872;872;853;860;897;773;890	ENSP00000448175:S846A;ENSP00000400908:S890A;ENSP00000388989:S890A;ENSP00000353822:S890A;ENSP00000376665:S859A;ENSP00000447362:S858A;ENSP00000354845:S897A;ENSP00000447660:S903A;ENSP00000447900:S872A;ENSP00000440034:S872A;ENSP00000446128:S853A;ENSP00000442847:S860A;ENSP00000354849:S897A;ENSP00000447116:S773A;ENSP00000449702:S890A	ENSP00000353822:S890A	S	+	1	0	MYBPC1	100591411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.124000	0.64709	2.189000	0.69895	0.454000	0.30748	TCT		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			164	745	0	0	0	1	0	164	745					G	102067280	T	G	102067280	3	3	79	1	0	0	0	0	1	0	0	0	10052	1551	54	4	2845	4	MYBPC1	12	102067280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10973	102067280	31784615	13687	24004											
CHPT1	56994	broad.mit.edu	37	chr12	102117041	102117041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaactgatgtgtttgaaaaGcatccttgtctttatatcct	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000229266.3	+	6	1111	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000549872.1_Silent_p.K292K	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	292					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318																																						ENST00000549872.1																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(874-876)aaG>aaA		choline phosphotransferase 1							113	115	114					12																	102117041		2203	4300	6503	SO:0001819	synonymous_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102117041G>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"phosphatidylcholine synthesizing enzyme"					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.876G>A	12.37:g.102117041G>A						CHPT1_ENST00000229266.3_Silent_p.K292K	p.K292K			Q8WUD6	CHPT1_HUMAN			6	1066	+			292					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	c.876G>A	CCDS9086.1																																																																																				0.318	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		44	194	0	0	0	1	0	44	194					A	102117041	G	A	102117041	2	1	79	1	0	0	0	0	0	0	0	1	3379	962	34	2		2	CHPT1	12	102117041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49761	102117041	31734854	13688	24005											
GNPTAB	79158	broad.mit.edu	37	chr12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagtaactatctgtgtAatgctgcagctttcttccaa	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	884					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTATCTGTGTAATGCTGCAGC	0.393																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2650-2652)Tac>Cac		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							290	281	284					12																	102158045		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158045A>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2650T>C	12.37:g.102158045A>G	ENSP00000299314:p.Tyr884His						p.Y884H	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2912	-			884					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2650T>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806642	0.50421	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.62	0.515	0.17013	.	0.377659	0.31082	N	0.008299	D	0.92763	0.7699	L	0.59436	1.845	0.09310	N	0.999995	B	0.11235	0.004	B	0.12156	0.007	D	0.84408	0.0564	10	0.42905	T	0.14	-2.6504	5.9361	0.19167	0.6673:0.1281:0.2045:0.0	.	884	Q3T906	GNPTA_HUMAN	H	884	ENSP00000299314:Y884H	ENSP00000299314:Y884H	Y	-	1	0	GNPTAB	100682176	0.839000	0.29477	0.000000	0.03702	0.685000	0.39939	3.055000	0.49916	-0.135000	0.11495	0.533000	0.62120	TAC		0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			226	926	0	0	0	1	0	226	926					G	102158045	A	G	102158045	3	3	79	1	0	0	0	0	1	0	0	0	6574	362	13	4	1156	4	GNPTAB	12	102158045	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41004	102158045	31693850	13689	24006											
GNPTAB	79158	broad.mit.edu	37	chr12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaggcattcaccttttgGaataatatagtgagtctggt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	558					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCACCTTTTGGAATAATATAG	0.358																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1672-1674)Cca>Tca		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							112	110	111					12																	102159023		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102159023G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1672C>T	12.37:g.102159023G>A	ENSP00000299314:p.Pro558Ser						p.P558S	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	1934	-			558					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1672C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313537	0.81358	.	.	ENSG00000111670	ENST00000299314	D	0.97161	-4.27	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98025	1.0373	10	0.72032	D	0.01	-16.2415	15.2943	0.73891	0.0669:0.0:0.9331:0.0	.	558	Q3T906	GNPTA_HUMAN	S	558	ENSP00000299314:P558S	ENSP00000299314:P558S	P	-	1	0	GNPTAB	100683154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.230000	0.95299	1.536000	0.49237	0.655000	0.94253	CCA		0.358	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			102	460	0	0	0	1	0	102	460					A	102159023	G	A	102159023	3	1	79	1	0	0	0	0	1	0	0	0	6574	1174	41	2	2134	2	GNPTAB	12	102159023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	978	102159023	31692872	13690	24007											
C12orf48	55010	broad.mit.edu	37	chr12	102558319	102558319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcaatattcctgatagagGactaggaagagaagccttca	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102558319G>A	ENST00000358383.5	+	5	644	c.599G>A	c.(598-600)gGa>gAa	p.G200E	PARPBP_ENST00000378128.3_Missense_Mutation_p.G200E|PARPBP_ENST00000541394.1_Missense_Mutation_p.G277E|PARPBP_ENST00000543784.1_Missense_Mutation_p.G86E|PARPBP_ENST00000392911.2_Missense_Mutation_p.G119E|PARPBP_ENST00000327680.2_Missense_Mutation_p.G119E|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	200					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTGATAGAGGACTAGGAAGA	0.363																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(355-357)gGa>gAa		PARP1 binding protein							140	151	147					12																	102558319		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102558319G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.599G>A	12.37:g.102558319G>A	ENSP00000351153:p.Gly200Glu					PARPBP_ENST00000358383.5_Missense_Mutation_p.G200E|PARPBP_ENST00000378128.3_Missense_Mutation_p.G200E|PARPBP_ENST00000392911.2_Missense_Mutation_p.G119E|PARPBP_ENST00000543784.1_Missense_Mutation_p.G86E|PARPBP_ENST00000541394.1_Missense_Mutation_p.G277E|PARPBP_ENST00000535811.1_Intron	p.G119E	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			6	819	+			200					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.356G>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342216	0.61073	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.69	5.69	0.88448	.	0.338331	0.35151	N	0.003410	T	0.66218	0.2767	M	0.72894	2.215	0.45452	D	0.998423	B;D;D;P;D;D	0.89917	0.424;1.0;1.0;0.64;1.0;1.0	B;D;D;B;D;D	0.87578	0.111;0.998;0.992;0.221;0.995;0.992	T	0.64659	-0.6355	10	0.48119	T	0.1	-16.5134	19.8169	0.96573	0.0:0.0:1.0:0.0	.	86;277;200;200;200;119	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1;Q9NWS1-2	.;.;.;.;PR1BP_HUMAN;.	E	200;119;277;86;200;119;167;167	ENSP00000367368:G200E;ENSP00000332915:G119E;ENSP00000440850:G277E;ENSP00000444576:G86E;ENSP00000351153:G200E;ENSP00000376643:G119E;ENSP00000411313:G167E;ENSP00000393867:G167E	ENSP00000332915:G119E	G	+	2	0	C12orf48	101082449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	2.689000	0.91719	0.460000	0.39030	GGA		0.363	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		164	472	0	0	0	1	0	164	472					A	102558319	G	A	102558319	3	1	79	1	0	0	0	0	1	0	0	0	1697	1174	41	2	366	2	C12orf48	12	102558319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399296	102558319	31293576	13691	24008											
C12orf48	55010	broad.mit.edu	37	chr12	102576327	102576327	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttttttttttgacatagGtctcccacacaggtgaataa	6	8	1	2	rs74958875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102576327G>A	ENST00000358383.5	+	9	1230	c.1185G>A	c.(1183-1185)agG>agA	p.R395R	PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Splice_Site_p.R472R|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000392911.2_Splice_Site_p.R314R|PARPBP_ENST00000327680.2_Splice_Site_p.R314R|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	395					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R314S(1)|p.R395S(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGACATAGGTCTCCCACAC	0.343																																						ENST00000327680.2																			2	Substitution - Missense(2)	p.R314S(1)|p.R395S(1)	lung(2)	endometrium(1)|lung(8)|urinary_tract(2)	11						c.e10-1		PARP1 binding protein							40	41	41					12																	102576327		2203	4299	6502	SO:0001630	splice_region_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576327G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1185-1G>A	12.37:g.102576327G>A						PARPBP_ENST00000358383.5_Splice_Site_p.R395_splice|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000392911.2_Splice_Site_p.R314_splice|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Splice_Site_p.R472_splice|PARPBP_ENST00000535811.1_Intron	p.R314_splice	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			10	1405	+			395					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Splice_Site	SNP	ENST00000358383.5	37	c.941_splice	CCDS9090.2																																																																																				0.343	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	Silent	22	74	0	0	0	1	0	22	74					A	102576327	G	A	102576327	5	1	79	1	0	0	0	0	0	0	1	0	1697	1275	44	2	968	2	C12orf48	12	102576327	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18008	102576327	31275568	13692	24009											
PAH	5053	broad.mit.edu	37	chr12	103238180	103238180	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggagtctccttgtttgcaGagcccaaactccacagtaaa	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000553106.1	-	10	1471	c.999C>A	c.(997-999)ctC>ctA	p.L333L	PAH_ENST00000307000.2_Silent_p.L328L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	333			L -> F (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(997-999)ctC>ctA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						96	87	90					12																	103238180		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103238180G>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.999C>A	12.37:g.103238180G>T						PAH_ENST00000307000.2_Silent_p.L328L	p.L333L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			10	1471	-			333		L -> F (in PKU).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.999C>A	CCDS9092.1																																																																																				0.423	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			21	125	1	0	1.2644e-06	1	1.30616e-06	21	125					T	103238180	G	T	103238180	2	4	79	1	0	0	0	0	0	0	0	1	11436	929	33	3		3	PAH	12	103238180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	661853	103238180	30613715	13693	24010											
C12orf42	374470	broad.mit.edu	37	chr12	103696338	103696338	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtctggcggcagaacCtggaaggcaaagcaggaaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000378113.2	-	6	857		c.e6-1		C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Splice_Site|C12orf42_ENST00000548883.1_Splice_Site	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42											NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GCGGCAGAACCTGGAAGGCAA	0.622																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.e9-1		chromosome 12 open reading frame 42							22	25	24					12																	103696338		1981	4151	6132	SO:0001630	splice_region_variant	374470							g.chr12:103696338C>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.632-1G>A	12.37:g.103696338C>T						C12orf42_ENST00000378113.2_Splice_Site|C12orf42_ENST00000548883.1_Splice_Site|C12orf42_ENST00000315192.8_Intron				Q96LP6	CL042_HUMAN			9	927	-								Q49A64|Q4G0S2	Splice_Site	SNP	ENST00000378113.2	37		CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574459	0.45902	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	4.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7242	0.18004	0.1933:0.7017:0.0:0.105	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf42	102220468	0.971000	0.33674	0.849000	0.33467	0.259000	0.26198	1.384000	0.34396	1.075000	0.40932	0.561000	0.74099	.		0.622	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	Intron	45	228	0	0	0	1	0	45	228					T	103696338	C	T	103696338	5	4	79	1	0	0	0	0	0	0	1	0	1693	695	24	2	455	2	C12orf42	12	103696338	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458158	103696338	30155557	13694	24011											
C12orf42	374470	broad.mit.edu	37	chr12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttacagaacacctgGggactatgtactggcaagta	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000378113.2	-	5	554	c.329C>A	c.(328-330)cCc>cAc	p.P110H	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.P43H|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(127-129)cCc>cAc		chromosome 12 open reading frame 42							61	62	62					12																	103700054		1837	4086	5923	SO:0001583	missense	374470							g.chr12:103700054G>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.329C>A	12.37:g.103700054G>T	ENSP00000367353:p.Pro110His					C12orf42_ENST00000378113.2_Missense_Mutation_p.P110H|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000315192.8_Intron	p.P43H			Q96LP6	CL042_HUMAN			8	624	-			110					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.128C>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349636	0.61183	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.21	4.21	0.49690	.	0.214048	0.23758	N	0.044846	T	0.67458	0.2895	L	0.29908	0.895	0.25731	N	0.985263	D	0.89917	1.0	D	0.81914	0.995	T	0.59418	-0.7458	10	0.87932	D	0	-10.6708	12.4434	0.55637	0.0:0.0:1.0:0.0	.	110	Q96LP6	CL042_HUMAN	H	110;43;110;110	ENSP00000447908:P110H;ENSP00000449362:P43H;ENSP00000367353:P110H;ENSP00000447795:P110H	ENSP00000367353:P110H	P	-	2	0	C12orf42	102224184	0.963000	0.33076	0.643000	0.29450	0.071000	0.16799	3.419000	0.52728	2.646000	0.89796	0.449000	0.29647	CCC		0.398	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		12	112	1	0	3.07112e-06	1	3.16074e-06	12	112					T	103700054	G	T	103700054	3	4	79	1	0	0	0	0	1	0	0	0	1693	1232	43	3	761	3	C12orf42	12	103700054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3716	103700054	30151841	13695	24012											
STAB2	55576	broad.mit.edu	37	chr12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccatgattaccagtggctCtgtaggggttcgagattgca	12	9	1	2	rs371810591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGTGGCTCTGTAGGGGTT	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(193-195)tCt>tTt		stabilin 2							128	124	125					12																	103984787		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103984787C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.194C>T	12.37:g.103984787C>T	ENSP00000373539:p.Ser65Phe						p.S65F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			2	398	+			65						Missense_Mutation	SNP	ENST00000388887.2	37	c.194C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111441	0.37242	.	.	ENSG00000136011	ENST00000388887	T	0.35421	1.31	6.02	5.11	0.69529	.	0.622630	0.16100	N	0.229582	T	0.42154	0.1190	L	0.55743	1.74	0.20489	N	0.999894	P	0.39576	0.679	B	0.43623	0.425	T	0.34453	-0.9828	10	0.56958	D	0.05	.	14.3393	0.66614	0.0:0.8517:0.1483:0.0	.	65	Q8WWQ8	STAB2_HUMAN	F	65	ENSP00000373539:S65F	ENSP00000373539:S65F	S	+	2	0	STAB2	102508917	0.029000	0.19370	0.020000	0.16555	0.007000	0.05969	2.230000	0.42999	1.500000	0.48636	0.655000	0.94253	TCT		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			133	438	0	0	0	1	0	133	438					T	103984787	C	T	103984787	3	4	79	1	0	0	0	0	1	0	0	0	15290	913	32	2	200	2	STAB2	12	103984787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284733	103984787	29867108	13696	24013											
STAB2	55576	broad.mit.edu	37	chr12	104015879	104015879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacttatttggacccagCtgttcatcaggtatgtctga	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGGACCCAGCTGTTCATCAG	0.448																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(475-477)agC>agT		stabilin 2							241	207	219					12																	104015879		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104015879C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.477C>T	12.37:g.104015879C>T							p.S159S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			5	681	+			159			EGF-like 2.			Silent	SNP	ENST00000388887.2	37	c.477C>T	CCDS31888.1																																																																																				0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			44	238	0	0	0	1	0	44	238					T	104015879	C	T	104015879	2	4	79	1	0	0	0	0	0	0	0	1	15290	796	28	2		2	STAB2	12	104015879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31092	104015879	29836016	13697	24014											
STAB2	55576	broad.mit.edu	37	chr12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtggataataaagctgCtcaatactttgtgaaactcc	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAAGCTGCTCAATACTTT	0.368																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1288-1290)gCt>gTt		stabilin 2							97	90	92					12																	104046365		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046365C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1289C>T	12.37:g.104046365C>T	ENSP00000373539:p.Ala430Val						p.A430V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1493	+			430			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1289C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459332	0.63401	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	5.82	0.92795	FAS1 domain (5);	0.063342	0.64402	D	0.000010	D	0.93504	0.7927	M	0.81682	2.555	0.45035	D	0.998059	P	0.49090	0.919	P	0.49421	0.61	D	0.93115	0.6520	10	0.48119	T	0.1	.	19.7095	0.96089	0.0:1.0:0.0:0.0	.	430	Q8WWQ8	STAB2_HUMAN	V	430	ENSP00000373539:A430V	ENSP00000373539:A430V	A	+	2	0	STAB2	102570495	0.998000	0.40836	0.859000	0.33776	0.104000	0.19210	3.887000	0.56197	2.752000	0.94435	0.655000	0.94253	GCT		0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	302	0	0	0	1	0	13	302					T	104046365	C	T	104046365	3	4	79	1	0	0	0	0	1	0	0	0	15290	797	28	2	1335	2	STAB2	12	104046365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	104046365	29805530	13698	24015											
STAB2	55576	broad.mit.edu	37	chr12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaaacctgaaattgatctCaaatgctacttccctccaag	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATTGATCTCAAATGCTACT	0.493																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5032-5034)tCa>tTa		stabilin 2							127	113	118					12																	104122724		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104122724C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5033C>T	12.37:g.104122724C>T	ENSP00000373539:p.Ser1678Leu						p.S1678L	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			48	5237	+			1678			FAS1 5.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5033C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442319	0.12164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90732	-2.72	5.56	5.56	0.83823	FAS1 domain (5);	0.497392	0.20561	N	0.089907	D	0.83917	0.5358	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.71699	-0.4514	10	0.30078	T	0.28	.	13.868	0.63600	0.1534:0.8466:0.0:0.0	.	1678	Q8WWQ8	STAB2_HUMAN	L	1678;365	ENSP00000373539:S1678L	ENSP00000258495:S365L	S	+	2	0	STAB2	102646854	0.221000	0.23642	0.037000	0.18230	0.012000	0.07955	2.099000	0.41767	2.595000	0.87683	0.655000	0.94253	TCA		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			71	384	0	0	0	1	0	71	384					T	104122724	C	T	104122724	3	4	79	1	0	0	0	0	1	0	0	0	15290	838	29	2	5223	2	STAB2	12	104122724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76359	104122724	29729171	13699	24016											
STAB2	55576	broad.mit.edu	37	chr12	104133248	104133248	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggagtaaaccaaaggTaattaagactgcagtgataa	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAACCAAAGGTAATTAAGACT	0.443																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.e54+2		stabilin 2							103	99	100					12																	104133248		2203	4300	6503	SO:0001630	splice_region_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104133248T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5754+2T>C	12.37:g.104133248T>C								NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			54	5958	+									Splice_Site	SNP	ENST00000388887.2	37		CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232311	0.79688	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7056	0.69189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102657378	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.203000	0.65174	2.053000	0.61076	0.533000	0.62120	.		0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Intron	57	245	0	0	0	1	0	57	245					C	104133248	T	C	104133248	5	2	79	1	0	0	0	0	0	0	1	0	15290	1652	57	4	5970	4	STAB2	12	104133248	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10524	104133248	29718647	13700	24017											
STAB2	55576	broad.mit.edu	37	chr12	104157272	104157272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtctttccaaacagtcGgaagaggacattaatgttgc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.S2497S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAACAGTCGGAAGAGGACA	0.527																																						ENST00000388887.2																			1	Substitution - coding silent(1)	p.S2497S(1)	lung(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7489-7491)tcG>tcA		stabilin 2							250	244	246					12																	104157272		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104157272G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7491G>A	12.37:g.104157272G>A						RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	p.S2497S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			68	7695	+			2497						Silent	SNP	ENST00000388887.2	37	c.7491G>A	CCDS31888.1																																																																																				0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			332	1035	0	0	0	1	0	332	1035					A	104157272	G	A	104157272	2	1	79	1	0	0	0	0	0	0	0	1	15290	1103	39	1		1	STAB2	12	104157272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	104157272	29694623	13701	24018											
NT5DC3	51559	broad.mit.edu	37	chr12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattgcaccagtcctccagcCatgctttagggtcaaatcct	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	403						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1207-1209)Ggc>Tgc		5'-nucleotidase domain containing 3							164	136	146					12																	104179235		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104179235C>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1207G>T	12.37:g.104179235C>A	ENSP00000376615:p.Gly403Cys						p.G403C	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			12	1247	-			403					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1207G>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831137	0.91036	.	.	ENSG00000111696	ENST00000392876	T	0.28666	1.6	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	9	.	.	.	-28.532	19.3059	0.94163	0.0:1.0:0.0:0.0	.	403	Q86UY8	NT5D3_HUMAN	C	403	ENSP00000376615:G403C	.	G	-	1	0	NT5DC3	102703365	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GGC		0.443	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		82	372	1	0	2.14232e-31	1	2.52235e-31	82	372					A	104179235	C	A	104179235	3	1	79	1	0	0	0	0	1	0	0	0	10734	594	21	3	451	3	NT5DC3	12	104179235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21963	104179235	29672660	13702	24019											
NT5DC3	51559	broad.mit.edu	37	chr12	104187733	104187733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaatgtctgcttcaattgCtctgtacattattcctttga	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104187733C>A	ENST00000392876.3	-	7	836	c.796G>T	c.(796-798)Gca>Tca	p.A266S	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	266			A -> E (in dbSNP:rs12184494).			cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCTTCAATTGCTCTGTACATT	0.403																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(796-798)Gca>Tca		5'-nucleotidase domain containing 3							231	201	211					12																	104187733		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187733C>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.796G>T	12.37:g.104187733C>A	ENSP00000376615:p.Ala266Ser						p.A266S	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			7	836	-			266		A -> E (in dbSNP:rs12184494).			Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.796G>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140542	0.37825	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.73	5.73	0.89815	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	L	0.59436	1.845	0.80722	D	1	P	0.39216	0.664	B	0.40329	0.326	T	0.04840	-1.0923	10	0.09590	T	0.72	-20.1698	19.8991	0.96978	0.0:1.0:0.0:0.0	.	266	Q86UY8	NT5D3_HUMAN	S	266	ENSP00000376615:A266S	ENSP00000376615:A266S	A	-	1	0	NT5DC3	102711863	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	4.632000	0.61311	2.706000	0.92434	0.557000	0.71058	GCA		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		13	513	1	0	2.23348e-06	1	2.30073e-06	13	513					A	104187733	C	A	104187733	3	1	79	1	0	0	0	0	1	0	0	0	10734	797	28	3	882	3	NT5DC3	12	104187733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8498	104187733	29664162	13703	24020											
HSP90B1	7184	broad.mit.edu	37	chr12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaacagttttggatcttgCtgtggttttgtttgaaacag	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	714					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(2140-2142)gCt>gAt		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						74	72	72					12																	104340598		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340598C>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2141C>A	12.37:g.104340598C>A	ENSP00000299767:p.Ala714Asp						p.A714D	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			16	2323	+			714					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2141C>A	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508297|5.508297	0.96386|0.96386	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.50813|.	0.73|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.100176|.	0.64402|.	D|.	0.000002|.	D|D	0.91580|0.91580	0.7340|0.7340	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94221|0.94221	0.7467|0.7467	10|5	0.87932|.	D|.	0|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714|.	P14625|.	ENPL_HUMAN|.	D|M	714;464|65	ENSP00000299767:A714D|.	ENSP00000299767:A714D|.	A|L	+|+	2|1	0|2	HSP90B1|HSP90B1	102864728|102864728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GCT|CTG		0.353	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		68	258	1	0	3.57465e-26	1	4.11543e-26	68	258					A	104340598	C	A	104340598	3	1	79	1	0	0	0	0	1	0	0	0	7433	797	28	3	2203	3	HSP90B1	12	104340598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152865	104340598	29511297	13704	24021											
TDG	6996	broad.mit.edu	37	chr12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccttcctttagtaatcActgtggaacacaagaacagg	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000544861.1_Missense_Mutation_p.H255R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	398					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)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1192-1194)cAc>cGc	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							145	112	123					12																	104380828		2203	4300	6503	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.chr12:104380828A>G	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.1193A>G	12.37:g.104380828A>G	ENSP00000376611:p.His398Arg					TDG_ENST00000544861.1_Missense_Mutation_p.H255R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R	p.H398R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	10	1427	+			398					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.1193A>G	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.301987	0.10678	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.21543	2.33;2.33;2.34;2.0	5.86	0.0592	0.14331	.	0.355996	0.22159	N	0.063819	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.22765	-1.0207	10	0.48119	T	0.1	-7.8928	10.9276	0.47199	0.5614:0.3717:0.0669:0.0	.	194;398;398	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	398;394;255;194	ENSP00000376611:H398R;ENSP00000266775:H394R;ENSP00000445899:H255R;ENSP00000439054:H194R	ENSP00000266775:H394R	H	+	2	0	TDG	102904958	0.024000	0.19004	0.001000	0.08648	0.166000	0.22503	0.710000	0.25748	0.099000	0.17552	-0.353000	0.07706	CAC		0.433	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			80	426	0	0	0	1	0	80	426					G	104380828	A	G	104380828	3	3	79	1	0	0	0	0	1	0	0	0	15777	159	6	4	1231	4	TDG	12	104380828	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40230	104380828	29471067	13705	24022											
HCFC2	29915	broad.mit.edu	37	chr12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttatatggtaacaaAtgctatttgtttggtggcct	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	138					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(412-414)aaA>aaC		host cell factor C2							207	198	201					12																	104461826		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104461826A>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.414A>C	12.37:g.104461826A>C	ENSP00000229330:p.Lys138Asn						p.K138N	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			3	518	+			138					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.414A>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005505	0.74932	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.70282	-0.47;-0.33	5.45	4.15	0.48705	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.79693	2.465	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.81675	-0.0825	10	0.66056	D	0.02	-20.5373	5.5982	0.17339	0.8047:0.0:0.1953:0.0	.	138	Q9Y5Z7	HCFC2_HUMAN	N	138;49	ENSP00000229330:K138N;ENSP00000447952:K49N	ENSP00000229330:K138N	K	+	3	2	HCFC2	102985956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.197000	0.70478	0.402000	0.26972	AAA		0.413	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		207	835	0	0	0	1	0	207	835					C	104461826	A	C	104461826	3	2	79	1	0	0	0	0	1	0	0	0	7023	98	4	4	424	4	HCFC2	12	104461826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80998	104461826	29390069	13706	24023											
HCFC2	29915	broad.mit.edu	37	chr12	104487331	104487332	+	Frame_Shift_Ins	INS	-	-	A													atgtggtggatatgctaaggINSaaaaatgaaggtatatggat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104487331_104487332insA	ENST00000229330.4	+	10	1556_1557	c.1452_1453insA	c.(1453-1455)aaafs	p.K485fs	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	485					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATATGCTAAGGAAAAATGAAGG	0.312																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1450-1455)agaaaafs		host cell factor C2																																				SO:0001589	frameshift_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487331_104487332insA	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1457dupA	12.37:g.104487336_104487336dupA	ENSP00000229330:p.Lys485fs					HCFC2_ENST00000550335.1_3'UTR	p.RK484fs	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1556_1557	+			484					B2R8Q5|C0H5X3	Frame_Shift_Ins	INS	ENST00000229330.4	37	c.1452_1453insA	CCDS9097.1																																																																																				0.312	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		56	274						56	274	---	---	---	---	A	104487332	-	A	104487331	7	5	79	1	0	1	1	0	0	0	0	0	7023	1165	41	0	1490	0	HCFC2	12	104487331	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	25505	104487331	29364564	13707	24024											
EID3	493861	broad.mit.edu	37	chr12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagctcctggagctcaccGctgacgaggagaagtgccgc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000527879.1	+	1	290	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGCTCACCGCTGACGAGGA	0.637																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(94-96)Gct>Act		EP300 interacting inhibitor of differentiation 3							28	32	31					12																	104697806		2120	4222	6342	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697806G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.94G>A	12.37:g.104697806G>A	ENSP00000435619:p.Ala32Thr					TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron	p.A32T	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	290	+			32						Missense_Mutation	SNP	ENST00000527879.1	37	c.94G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376748	0.24857	.	.	ENSG00000255150	ENST00000527879	T	0.44083	0.93	3.8	1.95	0.26073	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.13407	0.009	T	0.17319	-1.0373	9	0.14656	T	0.56	.	6.2809	0.21007	0.2155:0.0:0.7845:0.0	.	32	Q8N140	EID3_HUMAN	T	32	ENSP00000435619:A32T	ENSP00000435619:A32T	A	+	1	0	EID3	103221936	0.048000	0.20356	0.000000	0.03702	0.008000	0.06430	3.731000	0.55013	0.409000	0.25649	0.555000	0.69702	GCT		0.637	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		35	131	0	0	0	1	0	35	131					A	104697806	G	A	104697806	3	1	79	1	0	0	0	0	1	0	0	0	5005	1087	38	1	96	1	EID3	12	104697806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210475	104697806	29154089	13708	24025											
CHST11	50515	broad.mit.edu	37	chr12	105151191	105151191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaacgccagcggaagaaCgccacccaggaggccctgcg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567																																						ENST00000303694.5																			1	Substitution - coding silent(1)	p.N223N(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(667-669)aaC>aaT		carbohydrate (chondroitin 4) sulfotransferase 11							126	107	114					12																	105151191		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151191C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.669C>T	12.37:g.105151191C>T						CHST11_ENST00000549260.1_Silent_p.N218N	p.N223N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1108	+			223					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.669C>T	CCDS9099.1																																																																																				0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		61	297	0	0	0	1	0	61	297					T	105151191	C	T	105151191	2	4	79	1	0	0	0	0	0	0	0	1	3408	535	19	1		1	CHST11	12	105151191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453385	105151191	28700704	13709	24026											
ALDH1L2	160428	broad.mit.edu	37	chr12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcgcacagccttgtcaaGttcacagtcattaaatatta	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	709	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2125-2127)Ctt>Ttt		aldehyde dehydrogenase 1 family, member L2							92	85	87					12																	105431901		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105431901G>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2125C>T	12.37:g.105431901G>A	ENSP00000258494:p.Leu709Phe					C12orf45_ENST00000548583.1_Intron	p.L709F	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			18	2265	-			709			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2125C>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090850	0.76756	.	.	ENSG00000136010	ENST00000258494	T	0.80653	-1.4	5.47	3.62	0.41486	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.153962	0.64402	D	0.000019	D	0.85813	0.5784	M	0.75447	2.3	0.80722	D	1	D	0.57899	0.981	P	0.54372	0.75	D	0.86615	0.1875	10	0.62326	D	0.03	.	14.7689	0.69659	0.0:0.0:0.737:0.263	.	709	Q3SY69	AL1L2_HUMAN	F	709	ENSP00000258494:L709F	ENSP00000258494:L709F	L	-	1	0	ALDH1L2	103956031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	0.647000	0.30713	0.650000	0.86243	CTT		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		65	242	0	0	0	1	0	65	242					A	105431901	G	A	105431901	3	1	79	1	0	0	0	0	1	0	0	0	495	1029	36	2	670	2	ALDH1L2	12	105431901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280710	105431901	28419994	13710	24027											
ALDH1L2	160428	broad.mit.edu	37	chr12	105462502	105462502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatatactaaccatggCcttgattccttcaggaaaaa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105462502C>T	ENST00000258494.9	-	4	729	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	197	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTAACCATGGCCTTGATTCCT	0.338																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(589-591)Gcc>Acc		aldehyde dehydrogenase 1 family, member L2							79	76	77					12																	105462502		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105462502C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.589G>A	12.37:g.105462502C>T	ENSP00000258494:p.Ala197Thr					ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			4	729	-			197			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.589G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553253	0.96501	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.77358	-1.09;-1.09	6.06	6.06	0.98353	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89594	0.6760	M	0.86420	2.815	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	D	0.90078	0.4168	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	197	Q3SY69	AL1L2_HUMAN	T	197	ENSP00000258494:A197T;ENSP00000389608:A197T	ENSP00000258494:A197T	A	-	1	0	ALDH1L2	103986632	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GCC		0.338	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		10	373	0	0	0	1	0	10	373					T	105462502	C	T	105462502	3	4	79	1	0	0	0	0	1	0	0	0	495	739	26	2	2262	2	ALDH1L2	12	105462502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30601	105462502	28389393	13711	24028											
APPL2	55198	broad.mit.edu	37	chr12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcatgcggaagatgTtatgaatagcccgagcagcc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	448					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGAAGATGTTATGAATAGC	0.413																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1582-1584)aAc>aCc		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							156	138	144					12																	105582102		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105582102T>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1583A>C	12.37:g.105582102T>G	ENSP00000258530:p.Asn528Thr					APPL2_ENST00000539978.2_Missense_Mutation_p.N485T|APPL2_ENST00000551662.1_Missense_Mutation_p.N534T	p.N528T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			17	1808	-			528			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1583A>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283074	0.80803	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.36	5.36	0.76844	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.83275	0.996;0.993;0.996	T	0.53795	-0.8388	10	0.87932	D	0	-27.8493	15.3491	0.74368	0.0:0.0:0.0:1.0	.	534;485;528	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	528;485;534;59	ENSP00000258530:N528T;ENSP00000444472:N485T;ENSP00000446917:N534T;ENSP00000446510:N59T	ENSP00000258530:N528T	N	-	2	0	APPL2	104106232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.024000	0.59613	0.523000	0.50628	AAC		0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		99	426	0	0	0	1	0	99	426					G	105582102	T	G	105582102	3	3	79	1	0	0	0	0	1	0	0	0	818	1725	60	4	431	4	APPL2	12	105582102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119600	105582102	28269793	13712	24029											
NUAK1	9891	broad.mit.edu	37	chr12	106460674	106460674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgctgtctgccagcCggttccggtaccgcttcagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460674C>T	ENST00000261402.2	-	7	3271	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	631					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCTGCCAGCCGGTTCCGGTA	0.582																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1891-1893)cGg>cAg		NUAK family, SNF1-like kinase, 1							57	60	59					12																	106460674		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460674C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1892G>A	12.37:g.106460674C>T	ENSP00000261402:p.Arg631Gln						p.R631Q	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3271	-			631					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1892G>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276098	0.80580	.	.	ENSG00000074590	ENST00000261402	T	0.72942	-0.7	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000043	T	0.68659	0.3025	L	0.56769	1.78	0.58432	D	0.999999	D	0.53312	0.959	B	0.38985	0.287	T	0.73279	-0.4033	10	0.52906	T	0.07	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	631	O60285	NUAK1_HUMAN	Q	631	ENSP00000261402:R631Q	ENSP00000261402:R631Q	R	-	2	0	NUAK1	104984804	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.967000	0.56802	2.706000	0.92434	0.563000	0.77884	CGG		0.582	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		117	465	0	0	0	1	0	117	465					T	106460674	C	T	106460674	3	4	79	1	0	0	0	0	1	0	0	0	10754	652	23	1	97	1	NUAK1	12	106460674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878572	106460674	27391221	13713	24030											
NUAK1	9891	broad.mit.edu	37	chr12	106460686	106460686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagccggttccggtacCgcttcaggtactggggccgg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460686C>T	ENST00000261402.2	-	7	3259	c.1880G>A	c.(1879-1881)cGg>cAg	p.R627Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	627					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTTCCGGTACCGCTTCAGGTA	0.612																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1879-1881)cGg>cAg		NUAK family, SNF1-like kinase, 1							50	55	53					12																	106460686		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460686C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1880G>A	12.37:g.106460686C>T	ENSP00000261402:p.Arg627Gln						p.R627Q	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3259	-			627					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1880G>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505413	0.64410	.	.	ENSG00000074590	ENST00000261402	T	0.73363	-0.74	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000041	T	0.79185	0.4403	M	0.65498	2.005	0.35282	D	0.781421	D	0.60575	0.988	P	0.52267	0.694	T	0.77199	-0.2675	10	0.08179	T	0.78	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	627	O60285	NUAK1_HUMAN	Q	627	ENSP00000261402:R627Q	ENSP00000261402:R627Q	R	-	2	0	NUAK1	104984816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.756000	0.94617	0.563000	0.77884	CGG		0.612	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		14	510	0	0	0	1	0	14	510					T	106460686	C	T	106460686	3	4	79	1	0	0	0	0	1	0	0	0	10754	652	23	1	109	1	NUAK1	12	106460686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	106460686	27391209	13714	24031											
NUAK1	9891	broad.mit.edu	37	chr12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccactcggccagaaaacCtctcggtggcccgcttgact	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCAGAAAACCTCTCGGTGGC	0.667																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(223-225)aGg>aTg		NUAK family, SNF1-like kinase, 1							51	42	45					12																	106532208		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106532208C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.224G>T	12.37:g.106532208C>A	ENSP00000261402:p.Arg75Met						p.R75M	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			1	1603	-			75			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.224G>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146817	0.77888	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.67345	-0.26	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.79493	0.4455	M	0.71871	2.18	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81258	-0.1014	10	0.46703	T	0.11	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	75	O60285	NUAK1_HUMAN	M	75	ENSP00000261402:R75M	ENSP00000261402:R75M	R	-	2	0	NUAK1	105056338	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.197000	0.77814	1.832000	0.53329	0.313000	0.20887	AGG		0.667	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		29	154	1	0	2.23313e-29	1	2.60816e-29	29	154					A	106532208	C	A	106532208	3	1	79	1	0	0	0	0	1	0	0	0	10754	681	24	3	1789	3	NUAK1	12	106532208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71522	106532208	27319687	13715	24032											
CKAP4	10970	broad.mit.edu	37	chr12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacttggctgaggtctgtatCtccttcacagcttcctttaa	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(883-885)gaG>gaT		cytoskeleton-associated protein 4							148	149	148					12																	106633726		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633726C>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.885G>T	12.37:g.106633726C>A	ENSP00000367265:p.Glu295Asp					CKAP4_ENST00000552828.1_5'UTR	p.E295D	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1021	-			295					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.885G>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135179	0.21123	.	.	ENSG00000136026	ENST00000378026	T	0.81415	-1.49	5.54	0.0734	0.14390	.	0.267058	0.41823	D	0.000806	D	0.82756	0.5106	M	0.75264	2.295	0.23138	N	0.998234	D	0.55385	0.971	P	0.55749	0.783	T	0.73920	-0.3830	10	0.35671	T	0.21	-5.3382	8.4601	0.32923	0.0:0.6124:0.1457:0.2418	.	295	Q07065	CKAP4_HUMAN	D	295	ENSP00000367265:E295D	ENSP00000367265:E295D	E	-	3	2	CKAP4	105157856	0.003000	0.15002	0.052000	0.19188	0.711000	0.40976	-0.444000	0.06854	-0.221000	0.09973	-0.253000	0.11424	GAG		0.522	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			145	676	1	0	1.02229e-66	1	1.29409e-66	145	676					A	106633726	C	A	106633726	3	1	79	1	0	0	0	0	1	0	0	0	3453	912	32	3	927	3	CKAP4	12	106633726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101518	106633726	27218169	13716	24033											
POLR3B	55703	broad.mit.edu	37	chr12	106772100	106772100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttatccaagagcagctGtctaagaacaggatcatcgt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	184					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAGAGCAGCTGTCTAAGAACA	0.413																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(550-552)ctG>ctA		polymerase (RNA) III (DNA directed) polypeptide B							154	146	148					12																	106772100		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772100G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.552G>A	12.37:g.106772100G>A						POLR3B_ENST00000539066.1_Silent_p.L126L	p.L184L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			8	774	+			184					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.552G>A	CCDS9105.1																																																																																				0.413	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		95	391	0	0	0	1	0	95	391					A	106772100	G	A	106772100	2	1	79	1	0	0	0	0	0	0	0	1	12271	1364	48	2		2	POLR3B	12	106772100	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138374	106772100	27079795	13717	24034											
POLR3B	55703	broad.mit.edu	37	chr12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagctacaaaggagcaacaGactcatatattgaaaaagtg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.D863N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGAGCAACAGACTCATATAT	0.378																																						ENST00000228347.4																			1	Substitution - Missense(1)	p.D863N(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2587-2589)Gac>Tac		polymerase (RNA) III (DNA directed) polypeptide B							68	67	67					12																	106857272		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106857272G>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2587G>T	12.37:g.106857272G>T	ENSP00000228347:p.Asp863Tyr					POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	p.D863Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			23	2809	+			863					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2587G>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902964	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72505	-0.66;-0.66	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.65015	0.2651	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.58885	-0.7557	10	0.49607	T	0.09	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	Y	863;805	ENSP00000228347:D863Y;ENSP00000445721:D805Y	ENSP00000228347:D863Y	D	+	1	0	POLR3B	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC		0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		44	235	1	0	1.61863e-15	1	1.77026e-15	44	235					T	106857272	G	T	106857272	3	4	79	1	0	0	0	0	1	0	0	0	12271	942	33	3	2677	3	POLR3B	12	106857272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85172	106857272	26994623	13718	24035											
POLR3B	55703	broad.mit.edu	37	chr12	106903307	106903307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatccccaggttaaaaCtgtccaagtacaatgaatga	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106903307C>T	ENST00000228347.4	+	28	3604	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1070L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1128					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGTTAAAACTGTCCAAGTA	0.438																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3382-3384)Ctg>Ttg		polymerase (RNA) III (DNA directed) polypeptide B							108	94	99					12																	106903307		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903307C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3382C>T	12.37:g.106903307C>T						RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1070L	p.L1128L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			28	3604	+			1128					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.3382C>T	CCDS9105.1																																																																																				0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		68	270	0	0	0	1	0	68	270					T	106903307	C	T	106903307	2	4	79	1	0	0	0	0	0	0	0	1	12271	564	20	2		2	POLR3B	12	106903307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46035	106903307	26948588	13719	24036											
RFX4	5992	broad.mit.edu	37	chr12	107048102	107048102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagaagaatgatacccaAcctgtcaatgctgccagctt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107048102A>G	ENST00000392842.1	+	4	702	c.288A>G	c.(286-288)caA>caG	p.Q96Q	RFX4_ENST00000357881.4_Silent_p.Q105Q|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	96					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATGATACCCAACCTGTCAATG	0.488																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(286-288)caA>caG		regulatory factor X, 4 (influences HLA class II expression)							100	87	92					12																	107048102		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107048102A>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.288A>G	12.37:g.107048102A>G						RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.Q105Q	p.Q96Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			4	702	+			96					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.288A>G	CCDS9106.1																																																																																				0.488	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		43	266	0	0	0	1	0	43	266					G	107048102	A	G	107048102	2	3	79	1	0	0	0	0	0	0	0	1	13315	40	2	4		4	RFX4	12	107048102	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144795	107048102	26803793	13720	24037											
RFX4	5992	broad.mit.edu	37	chr12	107126802	107126802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccacatctgtggaagtGccacctccctcttcccctgt	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107126802G>A	ENST00000392842.1	+	15	1986	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	RFX4_ENST00000357881.4_Silent_p.V533V|RFX4_ENST00000229387.5_Silent_p.V430V|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	524					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTGGAAGTGCCACCTCCCT	0.502																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1570-1572)gtG>gtA		regulatory factor X, 4 (influences HLA class II expression)							163	148	153					12																	107126802		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126802G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1572G>A	12.37:g.107126802G>A						RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Silent_p.V430V|RFX4_ENST00000357881.4_Silent_p.V533V	p.V524V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			15	1986	+			524					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1572G>A	CCDS9106.1																																																																																				0.502	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		129	588	0	0	0	1	0	129	588					A	107126802	G	A	107126802	2	1	79	1	0	0	0	0	0	0	0	1	13315	1306	46	2		2	RFX4	12	107126802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78700	107126802	26725093	13721	24038											
RIC8B	55188	broad.mit.edu	37	chr12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaaggacatcccaacaaCatgtcaagtgtcctgcctgg	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392839.2	+	3	288	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000392837.4_Missense_Mutation_p.T61I|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	61					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(181-183)aCa>aTa		RIC8 guanine nucleotide exchange factor B							93	88	89					12																	107208523		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208523C>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.182C>T	12.37:g.107208523C>T	ENSP00000376583:p.Thr61Ile					RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000392839.2_Missense_Mutation_p.T61I	p.T61I			Q9NVN3	RIC8B_HUMAN			3	333	+			61					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.182C>T	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100814	0.37048	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.66460	0.94;0.94;0.94;-0.21	5.36	5.36	0.76844	Armadillo-type fold (1);	0.455332	0.26352	N	0.024867	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B;B;B	0.20988	0.05;0.029;0.037	B;B;B	0.18871	0.023;0.016;0.014	T	0.50101	-0.8867	10	0.59425	D	0.04	-5.3945	19.457	0.94897	0.0:1.0:0.0:0.0	.	21;61;61	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	I	61;61;21;45	ENSP00000376582:T61I;ENSP00000376583:T61I;ENSP00000347662:T21I;ENSP00000448743:T45I	ENSP00000347662:T21I	T	+	2	0	RIC8B	105732653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.676000	0.91093	0.655000	0.94253	ACA		0.388	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		83	342	0	0	0	1	0	83	342					T	107208523	C	T	107208523	3	4	79	1	0	0	0	0	1	0	0	0	13406	478	17	2	192	2	RIC8B	12	107208523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81721	107208523	26643372	13722	24039											
CRY1	1407	broad.mit.edu	37	chr12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtttgaagtaaaacagtcGacatgacaaacaaccaaatc	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	263					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R263*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338																																						ENST00000008527.5																			1	Substitution - Nonsense(1)	p.R263*(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(787-789)Cga>Tga		cryptochrome 1 (photolyase-like)							67	68	68					12																	107393758		2203	4300	6503	SO:0001587	stop_gained	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393758G>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.787C>T	12.37:g.107393758G>A	ENSP00000008527:p.Arg263*						p.R263*	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			6	1654	-			263			FAD-binding.			Nonsense_Mutation	SNP	ENST00000008527.5	37	c.787C>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	.	0.056923	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.14	15.7241	0.77740	0.0:0.0:0.8524:0.1475	.	.	.	.	X	263	.	ENSP00000008527:R263X	R	-	1	2	CRY1	105917888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	1.387000	0.46486	0.650000	0.86243	CGA		0.338	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		46	235	0	0	0	1	0	46	235					A	107393758	G	A	107393758	4	1	79	1	0	0	0	0	0	1	0	0	3912	1066	37	1	1001	1	CRY1	12	107393758	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185235	107393758	26458137	13723	24040											
BTBD11	121551	broad.mit.edu	37	chr12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcacagagacccacaGcggtcaaacaagccagggga	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	394						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGACCCACAGCGGTCAAACA	0.542																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1180-1182)caG>caT		BTB (POZ) domain containing 11							121	112	115					12																	107914310		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107914310G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1182G>T	12.37:g.107914310G>T	ENSP00000280758:p.Gln394His					BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H	p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			2	1710	+			394					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1182G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519401	0.44866	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48201	1.25;1.32;1.29;0.82	4.1	2.22	0.28083	Histone-fold (1);	0.259153	0.33040	N	0.005353	T	0.52141	0.1716	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.991	D;D;P	0.78314	0.991;0.979;0.793	T	0.49263	-0.8958	10	0.49607	T	0.09	.	7.2142	0.25951	0.3458:0.0:0.6542:0.0	.	394;394;394	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	394;394;394;28	ENSP00000280758:Q394H;ENSP00000413889:Q394H;ENSP00000447319:Q394H;ENSP00000407416:Q28H	ENSP00000280758:Q394H	Q	+	3	2	BTBD11	106438440	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	1.748000	0.38308	1.013000	0.39391	0.655000	0.94253	CAG		0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		105	438	1	0	4.73232e-52	1	5.88258e-52	105	438					T	107914310	G	T	107914310	3	4	79	1	0	0	0	0	1	0	0	0	1543	962	34	3	1188	3	BTBD11	12	107914310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520552	107914310	25937585	13724	24041											
BTBD11	121551	broad.mit.edu	37	chr12	107937870	107937870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcccacaaatggaatggGaaaaccccaacgtggagcct	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937870G>A	ENST00000280758.5	+	3	1972	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	482						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATGGAATGGGAAAACCCCAA	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1444-1446)Gaa>Aaa		BTB (POZ) domain containing 11							66	58	61					12																	107937870		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937870G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1444G>A	12.37:g.107937870G>A	ENSP00000280758:p.Glu482Lys					BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K	p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1972	+			482					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1444G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857972	0.91433	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	1.22;1.29;1.26;0.82;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.65882	-0.6060	10	0.32370	T	0.25	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	482;482;482	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	482;482;482;113;116	ENSP00000280758:E482K;ENSP00000413889:E482K;ENSP00000447319:E482K;ENSP00000447606:E113K;ENSP00000407416:E116K	ENSP00000280758:E482K	E	+	1	0	BTBD11	106462000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		7	272	0	0	0	1	0	7	272					A	107937870	G	A	107937870	3	1	79	1	0	0	0	0	1	0	0	0	1543	1175	41	2	1454	2	BTBD11	12	107937870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23560	107937870	25914025	13725	24042											
BTBD11	121551	broad.mit.edu	37	chr12	107937887	107937887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaccccaacgtggaGccttccaaagtcaacctcca	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	487						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAACGTGGAGCCTTCCAAAG	0.572																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1459-1461)gaG>gaA		BTB (POZ) domain containing 11							56	51	53					12																	107937887		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107937887G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1461G>A	12.37:g.107937887G>A						BTBD11_ENST00000420571.2_Silent_p.E487E|BTBD11_ENST00000490090.2_Silent_p.E487E	p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1989	+			487					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1461G>A	CCDS31893.1																																																																																				0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		44	197	0	0	0	1	0	44	197					A	107937887	G	A	107937887	2	1	79	1	0	0	0	0	0	0	0	1	1543	962	34	2		2	BTBD11	12	107937887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	107937887	25914008	13726	24043											
BTBD11	121551	broad.mit.edu	37	chr12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcctctcatccagtgCttgttaaaggagtttaagac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	844						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATCCAGTGCTTGTTAAAGG	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2530-2532)tgC>tgA		BTB (POZ) domain containing 11							71	68	69					12																	108013842		2203	4300	6503	SO:0001587	stop_gained	121551					integral to membrane	DNA binding	g.chr12:108013842C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2532C>A	12.37:g.108013842C>A	ENSP00000280758:p.Cys844*					BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*	p.C844*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			11	3060	+			844					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	37	c.2532C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460790	0.98299	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.04	2.8	0.32819	.	0.135156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4877	0.38940	0.0:0.7361:0.0:0.2639	.	.	.	.	X	844;725;844;381	.	ENSP00000280758:C844X	C	+	3	2	BTBD11	106537972	0.777000	0.28628	0.997000	0.53966	0.983000	0.72400	0.234000	0.17930	1.079000	0.41038	0.650000	0.86243	TGC		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		73	202	1	0	2.47556e-37	1	2.97223e-37	73	202					A	108013842	C	A	108013842	4	1	79	1	0	0	0	0	0	1	0	0	1543	805	28	3	2679	3	BTBD11	12	108013842	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75955	108013842	25838053	13727	24044											
BTBD11	121551	broad.mit.edu	37	chr12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgaagcattcaagcagctcCtgtatgacaaaaatggtgaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1067						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCAGCTCCTGTATGACAA	0.473																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3199-3201)Ctg>Atg		BTB (POZ) domain containing 11							124	113	117					12																	108051379		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108051379C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3199C>A	12.37:g.108051379C>A	ENSP00000280758:p.Leu1067Met					BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M	p.L1067M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			17	3727	+			1067					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3199C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568358	0.65651	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.47177	1.05;1.26;0.85;1.1	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.67757	-0.5588	10	0.87932	D	0	.	9.906	0.41377	0.0:0.8103:0.0:0.1897	.	604;1067	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1067;948;604;146	ENSP00000280758:L1067M;ENSP00000413889:L948M;ENSP00000349690:L604M;ENSP00000448322:L146M	ENSP00000280758:L1067M	L	+	1	2	BTBD11	106575509	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	1.777000	0.38604	2.760000	0.94817	0.655000	0.94253	CTG		0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		88	292	1	0	2.3666e-43	1	2.88907e-43	88	292					A	108051379	C	A	108051379	3	1	79	1	0	0	0	0	1	0	0	0	1543	680	24	3	3370	3	BTBD11	12	108051379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37537	108051379	25800516	13728	24045											
PWP1	11137	broad.mit.edu	37	chr12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagagaagaaggtggtgGcagtgatgaagaggagacag	17	3	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	49					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(145-147)gGc>gAc		PWP1 homolog (S. cerevisiae)							116	117	117					12																	108082406		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108082406G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.146G>A	12.37:g.108082406G>A	ENSP00000387365:p.Gly49Asp					PWP1_ENST00000541166.1_5'UTR	p.G49D	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			3	314	+			49					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.146G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	7.797	0.712842	0.15306	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327	T	0.68903	-0.36	5.69	1.58	0.23477	.	0.406630	0.30869	N	0.008716	T	0.29223	0.0727	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.02654	T	1	.	1.6877	0.02845	0.266:0.1436:0.4437:0.1466	.	49	Q13610	PWP1_HUMAN	D	49	ENSP00000387365:G49D	ENSP00000258531:G49D	G	+	2	0	PWP1	106606536	0.979000	0.34478	1.000000	0.80357	0.699000	0.40488	1.779000	0.38624	0.730000	0.32425	0.478000	0.44815	GGC		0.488	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		67	334	0	0	0	1	0	67	334					A	108082406	G	A	108082406	3	1	79	1	0	0	0	0	1	0	0	0	12893	1203	42	2	156	2	PWP1	12	108082406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31027	108082406	25769489	13729	24046											
PWP1	11137	broad.mit.edu	37	chr12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctggaggatggtgacccaGaggatgacaggacgcttgat	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	82					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(244-246)Gag>Aag		PWP1 homolog (S. cerevisiae)							140	129	133					12																	108082504		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108082504G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.244G>A	12.37:g.108082504G>A	ENSP00000387365:p.Glu82Lys					PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	p.E82K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			3	412	+			82					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.244G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178588	0.38511	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70749	-0.5;-0.51	5.82	4.92	0.64577	.	0.296366	0.41396	D	0.000891	T	0.52773	0.1755	N	0.20357	0.565	0.30325	N	0.787161	B	0.06786	0.001	B	0.01281	0.0	T	0.42241	-0.9463	10	0.07990	T	0.79	.	14.0991	0.65042	0.0:0.2979:0.7021:0.0	.	82	Q13610	PWP1_HUMAN	K	82;20;82;82;82;20	ENSP00000387365:E82K;ENSP00000445249:E20K	ENSP00000258531:E82K	E	+	1	0	PWP1	106606634	1.000000	0.71417	0.063000	0.19743	0.792000	0.44763	4.115000	0.57865	1.414000	0.47017	0.579000	0.79373	GAG		0.522	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		54	191	0	0	0	1	0	54	191					A	108082504	G	A	108082504	3	1	79	1	0	0	0	0	1	0	0	0	12893	943	33	2	254	2	PWP1	12	108082504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	108082504	25769391	13730	24047											
PRDM4	11108	broad.mit.edu	37	chr12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatccgctgaatacacaGcactgttaatcctacagtct	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	789					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2365-2367)gCt>gTt		PR domain containing 4							157	148	151					12																	108128027		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128027G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2366C>T	12.37:g.108128027G>A	ENSP00000228437:p.Ala789Val						p.A789V	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2825	-			789					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2366C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019506	0.54576	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	6.03	4.12	0.48240	.	0.097739	0.64402	D	0.000002	T	0.06371	0.0164	N	0.12182	0.205	0.25555	N	0.987046	B	0.20052	0.041	B	0.17098	0.017	T	0.24764	-1.0151	10	0.66056	D	0.02	0.0607	8.4723	0.32993	0.0821:0.2235:0.6943:0.0	.	789	Q9UKN5	PRDM4_HUMAN	V	789	ENSP00000228437:A789V	ENSP00000228437:A789V	A	-	2	0	PRDM4	106652157	0.983000	0.35010	0.412000	0.26496	0.855000	0.48748	3.027000	0.49697	1.569000	0.49696	-0.263000	0.10527	GCT		0.418	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		166	608	0	0	0	1	0	166	608					A	108128027	G	A	108128027	3	1	79	1	0	0	0	0	1	0	0	0	12506	971	34	2	43	2	PRDM4	12	108128027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45523	108128027	25723868	13731	24048											
PRDM4	11108	broad.mit.edu	37	chr12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattggagtcttccatttGcagtgaaggtgatacaaaag	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	358					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1072-1074)Caa>Taa		PR domain containing 4							108	83	92					12																	108145246		2203	4300	6503	SO:0001587	stop_gained	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145246G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1072C>T	12.37:g.108145246G>A	ENSP00000228437:p.Gln358*					RP11-864J10.4_ENST00000546714.1_RNA	p.Q358*	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			5	1531	-			358					Q9UFA6	Nonsense_Mutation	SNP	ENST00000228437.5	37	c.1072C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533768	0.96460	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	.	.	.	5.77	5.77	0.91146	.	0.052480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	358;103	.	ENSP00000228437:Q358X	Q	-	1	0	PRDM4	106669376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.885000	0.99019	0.655000	0.94253	CAA		0.413	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		22	317	0	0	0	1	0	22	317					A	108145246	G	A	108145246	4	1	79	1	0	0	0	0	0	1	0	0	12506	1328	46	2	1365	2	PRDM4	12	108145246	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17219	108145246	25706649	13732	24049											
ASCL4	121549	broad.mit.edu	37	chr12	108169235	108169235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcaagcgcaacgagcgCgagcggcagcgggtgcgctg	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	ENST00000342331.4	+	1	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAACGAGCGCGAGCGGCAGC	0.716																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(241-243)cgC>cgT		achaete-scute family bHLH transcription factor 4							4	5	5					12																	108169235		1904	3809	5713	SO:0001819	synonymous_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169235C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.243C>T	12.37:g.108169235C>T							p.R81R	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1074	+			80					Q7RTS2	Silent	SNP	ENST00000342331.4	37	c.243C>T	CCDS31894.2																																																																																				0.716	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		8	47	0	0	0	1	0	8	47					T	108169235	C	T	108169235	2	4	79	1	0	0	0	0	0	0	0	1	1037	755	27	1		1	ASCL4	12	108169235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23989	108169235	25682660	13733	24050											
WSCD2	9671	broad.mit.edu	37	chr12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctactacttcgatgGctccctctacaacaaaggtg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1126-1128)gGc>gAc		WSC domain containing 2							47	46	46					12																	108626655		2067	4218	6285	SO:0001583	missense	9671					integral to membrane		g.chr12:108626655G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1127G>A	12.37:g.108626655G>A	ENSP00000331933:p.Gly376Asp					WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D	p.G376D			Q2TBF2	WSCD2_HUMAN			8	1945	+			376					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1127G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764889	0.90020	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;4.64;1.51;4.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.54029	-0.8354	10	0.56958	D	0.05	-32.4055	17.703	0.88301	0.0:0.0:1.0:0.0	.	376;376	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	D	376	ENSP00000448047:G376D;ENSP00000261400:G376D;ENSP00000331933:G376D;ENSP00000447272:G376D	ENSP00000261400:G376D	G	+	2	0	WSCD2	107150785	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GGC		0.577	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		42	186	0	0	0	1	0	42	186					A	108626655	G	A	108626655	3	1	79	1	0	0	0	0	1	0	0	0	17461	1203	42	2	1149	2	WSCD2	12	108626655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457420	108626655	25225240	13734	24051											
CMKLR1	1240	broad.mit.edu	37	chr12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagaccatgttcactgtcTtcttcatcttgaaggtggca	8	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	71					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517																																						ENST00000397688.2																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(205-207)aAg>aTg		chemokine-like receptor 1							135	135	135					12																	108686528		2040	4194	6234	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686528T>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.212A>T	12.37:g.108686528T>A	ENSP00000311733:p.Lys71Met					CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000312143.7_Missense_Mutation_p.K71M	p.K69M	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN			3	575	-			71					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.206A>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	t	17.48	3.400342	0.62177	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.0	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.159847	0.53938	D	0.000046	T	0.58481	0.2125	M	0.74258	2.255	0.40904	D	0.984177	D	0.76494	0.999	D	0.73380	0.98	T	0.57757	-0.7756	10	0.87932	D	0	.	7.4535	0.27252	0.0:0.2193:0.0:0.7807	.	71	Q99788	CML1_HUMAN	M	71;71;69;69;71;71;71	ENSP00000311733:K71M;ENSP00000401293:K71M;ENSP00000380803:K69M;ENSP00000447579:K69M;ENSP00000449716:K71M;ENSP00000448925:K71M;ENSP00000448362:K71M	ENSP00000311733:K71M	K	-	2	0	CMKLR1	107210658	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.820000	0.27323	0.177000	0.19895	0.387000	0.25754	AAG		0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			74	301	0	0	0	1	0	74	301					A	108686528	T	A	108686528	3	1	79	1	0	0	0	0	1	0	0	0	3588	1609	56	5	913	5	CMKLR1	12	108686528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59873	108686528	25165367	13735	24052											
FICD	11153	broad.mit.edu	37	chr12	108913102	108913102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagctgccaacgagggCgacgtgaggcctttcattcg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	409	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582																																						ENST00000552695.1																			1	Substitution - coding silent(1)	p.G409G(1)	large_intestine(1)	NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(1225-1227)ggC>ggT		FIC domain containing							101	94	97					12																	108913102		2203	4300	6503	SO:0001819	synonymous_variant	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108913102C>T	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1227C>T	12.37:g.108913102C>T						FICD_ENST00000361549.2_3'UTR	p.G409G	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1462	+			409			Fido.		O75406	Silent	SNP	ENST00000552695.1	37	c.1227C>T	CCDS9116.1																																																																																				0.582	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		59	249	0	0	0	1	0	59	249					T	108913102	C	T	108913102	2	4	79	1	0	0	0	0	0	0	0	1	5912	755	27	1		1	FICD	12	108913102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226574	108913102	24938793	13736	24053											
SSH1	54434	broad.mit.edu	37	chr12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgggtttccctgatgGtttggaggttgcagctgggt	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1031	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCCTGATGGTTTGGAGGTT	0.562																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3091-3093)Cca>Tca		slingshot protein phosphatase 1							98	104	102					12																	109181823		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181823G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3091C>T	12.37:g.109181823G>A	ENSP00000315713:p.Pro1031Ser					SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	p.P1031S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3184	-			1031			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3091C>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722921	0.15439	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.86;2.71	5.0	-2.85	0.05734	.	3.429030	0.00447	N	0.000081	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24261	-1.0165	10	0.18276	T	0.48	1.3753	4.7863	0.13227	0.3481:0.0856:0.4793:0.0871	.	1031;719	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	719;1031	ENSP00000353374:P719S;ENSP00000315713:P1031S	ENSP00000315713:P1031S	P	-	1	0	SSH1	107705952	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.027000	0.13621	-0.805000	0.04404	-0.813000	0.03139	CCA		0.562	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		123	534	0	0	0	1	0	123	534					A	109181823	G	A	109181823	3	1	79	1	0	0	0	0	1	0	0	0	15236	1261	44	2	62	2	SSH1	12	109181823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268721	109181823	24670072	13737	24054											
SSH1	54434	broad.mit.edu	37	chr12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcctccgggccacttCgcaggccttgtgaagcacct	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000551165.1_Missense_Mutation_p.E190K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	190					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCACTTCGCAGGCCTTG	0.592																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(568-570)Gaa>Aaa		slingshot protein phosphatase 1							38	41	40					12																	109201572		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201572C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.568G>A	12.37:g.109201572C>T	ENSP00000315713:p.Glu190Lys					SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	p.E190K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			8	661	-			190					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.568G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920053	0.92249	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438	T;T;T	0.37058	1.22;1.22;1.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.69078	0.87;0.997;0.87;0.906	P;P;B;B	0.59546	0.454;0.859;0.269;0.372	T	0.47182	-0.9137	10	0.36615	T	0.2	-25.9072	18.0508	0.89347	0.0:1.0:0.0:0.0	.	201;94;190;190	Q8WYL5-5;Q8WYL5-3;Q8WYL5-2;Q8WYL5	.;.;.;SSH1_HUMAN	K	190;190;201;94	ENSP00000315713:E190K;ENSP00000448824:E190K;ENSP00000326107:E201K	ENSP00000307610:E94K	E	-	1	0	SSH1	107725701	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.747000	0.85070	2.488000	0.83962	0.655000	0.94253	GAA		0.592	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		50	208	0	0	0	1	0	50	208					T	109201572	C	T	109201572	3	4	79	1	0	0	0	0	1	0	0	0	15236	893	31	1	2799	1	SSH1	12	109201572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19749	109201572	24650323	13738	24055											
SSH1	54434	broad.mit.edu	37	chr12	109205098	109205098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaccatcccaatggtgcaGcttttactgcgatgggggag	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000326495.5	-	6	501	c.408C>A	c.(406-408)agC>agA	p.S136R	SSH1_ENST00000360239.3_De_novo_Start_OutOfFrame|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000551165.1_Missense_Mutation_p.S136R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	136					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATGGTGCAGCTTTTACTGC	0.522																																						ENST00000360239.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38								slingshot protein phosphatase 1							164	137	146					12																	109205098		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109205098G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.408C>A	12.37:g.109205098G>T	ENSP00000315713:p.Ser136Arg					SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000326495.5_Missense_Mutation_p.S136R				Q8WYL5	SSH1_HUMAN			0	494	-								Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Translation_Start_Site	SNP	ENST00000326495.5	37		CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320243	0.60634	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.77620	1.29;1.29;1.29;-1.11	5.2	5.2	0.72013	.	0.156947	0.64402	D	0.000001	D	0.82273	0.5001	L	0.37507	1.11	0.80722	D	1	B;D;P	0.65815	0.34;0.995;0.76	B;P;B	0.62014	0.07;0.897;0.343	D	0.83762	0.0215	10	0.62326	D	0.03	-34.4919	18.0915	0.89477	0.0:0.0:1.0:0.0	.	147;136;136	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	R	136;136;147;120	ENSP00000315713:S136R;ENSP00000448824:S136R;ENSP00000326107:S147R;ENSP00000446652:S120R	ENSP00000326107:S147R	S	-	3	2	SSH1	107729227	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.069000	0.50026	2.577000	0.86979	0.655000	0.94253	AGC		0.522	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	313	1	0	0.00198382	1	0.00200138	6	313					T	109205098	G	T	109205098	3	4	79	1	0	0	0	0	1	0	0	0	15236	962	34	3	2967	3	SSH1	12	109205098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3526	109205098	24646797	13739	24056											
DAO	1610	broad.mit.edu	37	chr12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccgacgtggctgccGgcctctggcagccctacctt	10	19	1	0	rs546485721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000228476.3	+	2	352	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000551281.1_Missense_Mutation_p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	50					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CGTGGCTGCCGGCCTCTGGCA	0.617																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(148-150)Ggc>Agc		D-amino-acid oxidase							70	72	71					12																	109278930		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109278930G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.148G>A	12.37:g.109278930G>A	ENSP00000228476:p.Gly50Ser					DAO_ENST00000551281.1_Missense_Mutation_p.G50S	p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			2	352	+			50					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.148G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959338	0.74016	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	D;D;D	0.86956	-2.19;-2.19;-2.19	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.046434	0.85682	D	0.000000	D	0.94621	0.8266	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94898	0.8054	10	0.59425	D	0.04	-7.3957	18.1463	0.89656	0.0:0.0:1.0:0.0	.	50;50	P14920;Q7Z312	OXDA_HUMAN;.	S	50	ENSP00000446853:G50S;ENSP00000228476:G50S;ENSP00000447104:G50S	ENSP00000228476:G50S	G	+	1	0	DAO	107803059	1.000000	0.71417	0.959000	0.39883	0.028000	0.11728	9.777000	0.99008	2.628000	0.89032	0.591000	0.81541	GGC		0.617	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			90	569	0	0	0	1	0	90	569					A	109278930	G	A	109278930	3	1	79	1	0	0	0	0	1	0	0	0	4242	1116	39	1	150	1	DAO	12	109278930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73832	109278930	24572965	13740	24057											
DAO	1610	broad.mit.edu	37	chr12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtacgcccccagattcGgctagaaagagaacagcttc	10	13	0	3	rs372560295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000228476.3	+	10	1073	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	290					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCCCAGATTCGGCTAGAAAGA	0.483																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(868-870)cGg>cAg		D-amino-acid oxidase		G	GLN/ARG	0,4406		0,0,2203	46	39	41		869	5.1	0.9	12		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAO	NM_001917.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	290/348	109293208	1,13005	2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293208G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.869G>A	12.37:g.109293208G>A	ENSP00000228476:p.Arg290Gln					DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	p.R290Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			10	1073	+			290					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.869G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.300068	0.81136	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.81415	-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95271	0.8377	10	0.87932	D	0	-16.9776	16.0921	0.81098	0.0:0.0:1.0:0.0	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	Q	224;290	ENSP00000446853:R224Q;ENSP00000228476:R290Q	ENSP00000228476:R290Q	R	+	2	0	DAO	107817337	1.000000	0.71417	0.944000	0.38274	0.276000	0.26787	7.514000	0.81750	2.409000	0.81822	0.542000	0.68232	CGG		0.483	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			17	107	0	0	0	1	0	17	107					A	109293208	G	A	109293208	3	1	79	1	0	0	0	0	1	0	0	0	4242	1116	39	1	903	1	DAO	12	109293208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14278	109293208	24558687	13741	24058											
SVOP	55530	broad.mit.edu	37	chr12	109332674	109332674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatcctctttaaggtggCgattgccttttcctggttcc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547																																						ENST00000299134.5																			0				breast(2)|lung(4)	6						c.(628-630)tcG>tcA		SV2 related protein homolog (rat)							281	284	283					12																	109332674		2077	4207	6284	SO:0001819	synonymous_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332674C>T	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.630G>A	12.37:g.109332674C>T							p.S210S	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN			7	629	-			0					Q9NPW5	Silent	SNP	ENST00000299134.5	37	c.630G>A																																																																																					0.547	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		159	689	0	0	0	1	0	159	689					T	109332674	C	T	109332674	2	4	79	1	0	0	0	0	0	0	0	1	15475	768	27	1		1	SVOP	12	109332674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39466	109332674	24519221	13742	24059											
USP30	84749	broad.mit.edu	37	chr12	109523652	109523652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcaggaggtcctGtcctccagcgcctacctgct	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000257548.5	+	13	1563	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1468-1470)ctG>ctA		ubiquitin specific peptidase 30							92	74	80					12																	109523652		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109523652G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1470G>A	12.37:g.109523652G>A						USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			13	1563	+			490					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1470G>A	CCDS9123.2																																																																																				0.597	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		25	293	0	0	0	1	0	25	293					A	109523652	G	A	109523652	2	1	79	1	0	0	0	0	0	0	0	1	17115	1364	48	2		2	USP30	12	109523652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190978	109523652	24328243	13743	24060											
ALKBH2	121642	broad.mit.edu	37	chr12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctccattccctggggCctctctcctgggcctcttcc	10	18	2	0	rs573894170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000429722.2	-	2	496	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T|ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	45					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.0		0.0	False		,,,				2504	0.001					ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(133-135)Gcc>Acc	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						137	149	145					12																	109530459		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530459C>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.133G>A	12.37:g.109530459C>T	ENSP00000398181:p.Ala45Thr					ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			2	496	-			45					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.133G>A	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433944	0.43224	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22134	1.97;1.97	5.76	-11.5	0.00074	.	3.538250	0.00508	N	0.000171	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.001	B;B	0.10450	0.005;0.0	T	0.15150	-1.0447	10	0.09338	T	0.73	-0.7051	13.3487	0.60589	0.0:0.5201:0.3529:0.127	.	45;45	A4PET2;Q6NS38	.;ALKB2_HUMAN	T	45	ENSP00000398181:A45T;ENSP00000343021:A45T	ENSP00000343021:A45T	A	-	1	0	ALKBH2	108014842	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.292000	0.02772	-3.112000	0.00241	-0.471000	0.05019	GCC		0.597	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		157	714	0	0	0	1	0	157	714					T	109530459	C	T	109530459	3	4	79	1	0	0	0	0	1	0	0	0	527	739	26	2	664	2	ALKBH2	12	109530459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6807	109530459	24321436	13744	24061											
ACACB	32	broad.mit.edu	37	chr12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagcttcaagccaacGggactgggacacaaggtctg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377854.5_Missense_Mutation_p.G119R|ACACB_ENST00000377848.3_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					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)			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)	TCAAGCCAACGGGACTGGGAC	0.622																																						ENST00000338432.7																			0				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						c.(355-357)Ggg>Agg		acetyl-CoA carboxylase beta	Biotin(DB00121)						118	122	121					12																	109577565		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.chr12:109577565G>A	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.355G>A	12.37:g.109577565G>A	ENSP00000341044:p.Gly119Arg					ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R	p.G119R			O00763	ACACB_HUMAN			2	474	+			119					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.355G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560373	0.13498	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.51071	2.2;0.72;2.2;2.2	4.33	-1.05	0.10036	.	1.686470	0.02762	N	0.118751	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06303	-1.0834	10	0.23891	T	0.37	.	3.5659	0.07900	0.4306:0.0:0.3952:0.1742	.	119	O00763	ACACB_HUMAN	R	119;94;119;119	ENSP00000341044:G119R;ENSP00000443494:G94R;ENSP00000367079:G119R;ENSP00000367085:G119R	ENSP00000341044:G119R	G	+	1	0	ACACB	108061948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.317000	0.08677	-0.136000	0.14681	GGG		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		199	912	0	0	0	1	0	199	912					A	109577565	G	A	109577565	3	1	79	1	0	0	0	0	1	0	0	0	107	1116	39	1	357	1	ACACB	12	109577565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47106	109577565	24274330	13745	24062											
ACACB	32	broad.mit.edu	37	chr12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccgtggcttctcccgctGagtttgtcacacgctttggg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					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)			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)	TTCTCCCGCTGAGTTTGTCAC	0.612																																						ENST00000338432.7																			0				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						c.(745-747)Gag>Aag		acetyl-CoA carboxylase beta	Biotin(DB00121)						82	75	77					12																	109604757		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.chr12:109604757G>A	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.745G>A	12.37:g.109604757G>A	ENSP00000341044:p.Glu249Lys					ACACB_ENST00000377848.3_Missense_Mutation_p.E249K|ACACB_ENST00000377854.5_Missense_Mutation_p.E249K	p.E249K			O00763	ACACB_HUMAN			3	864	+			249					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.745G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794786	0.96952	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.86953	2.85	0.80722	D	1	P	0.38922	0.651	P	0.45506	0.483	T	0.39742	-0.9599	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	249	O00763	ACACB_HUMAN	K	249	ENSP00000341044:E249K;ENSP00000367079:E249K;ENSP00000367085:E249K	ENSP00000341044:E249K	E	+	1	0	ACACB	108089140	1.000000	0.71417	0.978000	0.43139	0.797000	0.45037	7.933000	0.87642	2.596000	0.87737	0.591000	0.81541	GAG		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		63	322	0	0	0	1	0	63	322					A	109604757	G	A	109604757	3	1	79	1	0	0	0	0	1	0	0	0	107	1291	45	2	751	2	ACACB	12	109604757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27192	109604757	24247138	13746	24063											
ACACB	32	broad.mit.edu	37	chr12	109605787	109605787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgttccgcaacgagcgGgccatccggtttgttgtgat	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377854.5_Silent_p.R291R|ACACB_ENST00000377848.3_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	291	Biotin carboxylation.				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)			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)	GCAACGAGCGGGCCATCCGGT	0.602																																						ENST00000338432.7																			0				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						c.(871-873)cgG>cgA		acetyl-CoA carboxylase beta	Biotin(DB00121)						158	100	120					12																	109605787		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:109605787G>A	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.873G>A	12.37:g.109605787G>A						ACACB_ENST00000377848.3_Silent_p.R291R|ACACB_ENST00000377854.5_Silent_p.R291R	p.R291R			O00763	ACACB_HUMAN			4	992	+			291			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.873G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		53	258	0	0	0	1	0	53	258					A	109605787	G	A	109605787	2	1	79	1	0	0	0	0	0	0	0	1	107	1219	43	2		2	ACACB	12	109605787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1030	109605787	24246108	13747	24064											
ACACB	32	broad.mit.edu	37	chr12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcctaggcggagaaaccgGatatcatgcttggggtggta	14	8	2	1	rs542111056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377854.5_Missense_Mutation_p.D770N|ACACB_ENST00000377848.3_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	770					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)			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)	GGAGAAACCGGATATCATGCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20933	0.0		0.001	False		,,,				2504	0.0					ENST00000338432.7																			0				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						c.(2308-2310)Gat>Aat		acetyl-CoA carboxylase beta	Biotin(DB00121)						114	100	104					12																	109629664		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.chr12:109629664G>A	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.2308G>A	12.37:g.109629664G>A	ENSP00000341044:p.Asp770Asn					ACACB_ENST00000377848.3_Missense_Mutation_p.D770N|ACACB_ENST00000377854.5_Missense_Mutation_p.D770N	p.D770N			O00763	ACACB_HUMAN			15	2427	+			770					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2308G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267133	0.80469	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96232	-3.95;-3.95;-3.91	5.41	5.41	0.78517	.	0.099394	0.64402	D	0.000003	D	0.95778	0.8626	M	0.71920	2.185	0.80722	D	1	B	0.22851	0.076	B	0.26614	0.071	D	0.93811	0.7110	10	0.56958	D	0.05	.	18.244	0.89978	0.0:0.0:1.0:0.0	.	770	O00763	ACACB_HUMAN	N	770	ENSP00000341044:D770N;ENSP00000367079:D770N;ENSP00000367085:D770N	ENSP00000341044:D770N	D	+	1	0	ACACB	108114047	1.000000	0.71417	0.793000	0.32043	0.955000	0.61496	6.823000	0.75282	2.549000	0.85964	0.650000	0.86243	GAT		0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	229	0	0	0	1	0	50	229					A	109629664	G	A	109629664	3	1	79	1	0	0	0	0	1	0	0	0	107	1174	41	2	2362	2	ACACB	12	109629664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23877	109629664	24222231	13748	24065											
ACACB	32	broad.mit.edu	37	chr12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaccatcggcaataagaCgtgtgtgtttgagaaggaga	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377854.5_Missense_Mutation_p.T885M|ACACB_ENST00000377848.3_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					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)			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)	GGCAATAAGACGTGTGTGTTT	0.547																																						ENST00000338432.7																			0				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						c.(2653-2655)aCg>aTg		acetyl-CoA carboxylase beta	Biotin(DB00121)						145	130	136					12																	109637233		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.chr12:109637233C>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.2654C>T	12.37:g.109637233C>T	ENSP00000341044:p.Thr885Met					ACACB_ENST00000377848.3_Missense_Mutation_p.T885M|ACACB_ENST00000377854.5_Missense_Mutation_p.T885M	p.T885M			O00763	ACACB_HUMAN			18	2773	+			885					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2654C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311544	0.81358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.96491	-4.03;-4.03;-3.97	5.42	4.53	0.55603	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.99198	1.0872	10	0.87932	D	0	.	14.2219	0.65833	0.0:0.9269:0.0:0.0731	.	885	O00763	ACACB_HUMAN	M	885;885;885;116	ENSP00000341044:T885M;ENSP00000367079:T885M;ENSP00000367085:T885M	ENSP00000341044:T885M	T	+	2	0	ACACB	108121616	1.000000	0.71417	0.888000	0.34837	0.877000	0.50540	5.958000	0.70330	1.418000	0.47098	0.585000	0.79938	ACG		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		81	315	0	0	0	1	0	81	315					T	109637233	C	T	109637233	3	4	79	1	0	0	0	0	1	0	0	0	107	536	19	1	2720	1	ACACB	12	109637233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7569	109637233	24214662	13749	24066											
ACACB	32	broad.mit.edu	37	chr12	109637282	109637282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctgagatccccctcGgctgggaagctgacacagta	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377854.5_Silent_p.S901S|ACACB_ENST00000377848.3_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				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)			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)	GATCCCCCTCGGCTGGGAAGC	0.582																																						ENST00000338432.7																			0				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						c.(2701-2703)tcG>tcA		acetyl-CoA carboxylase beta	Biotin(DB00121)						115	111	112					12																	109637282		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:109637282G>A	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.2703G>A	12.37:g.109637282G>A						ACACB_ENST00000377848.3_Silent_p.S901S|ACACB_ENST00000377854.5_Silent_p.S901S	p.S901S			O00763	ACACB_HUMAN			18	2822	+			901			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2703G>A	CCDS31898.1																																																																																				0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		82	417	0	0	0	1	0	82	417					A	109637282	G	A	109637282	2	1	79	1	0	0	0	0	0	0	0	1	107	1103	39	1		1	ACACB	12	109637282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	109637282	24214613	13750	24067											
ACACB	32	broad.mit.edu	37	chr12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaaaacctcaccaacGtcatgagtggcttttgtctg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I|ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1006					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)			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)	CCTCACCAACGTCATGAGTGG	0.537																																						ENST00000338432.7																			0				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						c.(3016-3018)Gtc>Atc		acetyl-CoA carboxylase beta	Biotin(DB00121)						142	133	136					12																	109644617		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.chr12:109644617G>A	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.3016G>A	12.37:g.109644617G>A	ENSP00000341044:p.Val1006Ile					ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I|ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I	p.V1006I			O00763	ACACB_HUMAN			20	3135	+			1006					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3016G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	1.092	-0.663712	0.03428	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.104	0.14531	Acetyl-CoA carboxylase, central domain (1);	0.120003	0.56097	N	0.000027	T	0.11922	0.0290	N	0.02775	-0.495	0.80722	D	1	B	0.24963	0.115	B	0.24006	0.05	T	0.36407	-0.9749	10	0.02654	T	1	.	10.597	0.45343	0.4098:0.0:0.5902:0.0	.	1006	O00763	ACACB_HUMAN	I	1006;1006;1006;237	ENSP00000341044:V1006I;ENSP00000367079:V1006I;ENSP00000367085:V1006I	ENSP00000341044:V1006I	V	+	1	0	ACACB	108129000	0.102000	0.21896	0.393000	0.26258	0.632000	0.37999	0.436000	0.21526	-0.272000	0.09259	-0.136000	0.14681	GTC		0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		126	523	0	0	0	1	0	126	523					A	109644617	G	A	109644617	3	1	79	1	0	0	0	0	1	0	0	0	107	1145	40	1	3090	1	ACACB	12	109644617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7335	109644617	24207278	13751	24068											
ACACB	32	broad.mit.edu	37	chr12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagatcgcatttaccGtcacttggaacctgccctgg	10	12	1	2	rs200016239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1490					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)			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)	CGCATTTACCGTCACTTGGAA	0.552																																						ENST00000338432.7																			0				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						c.(4468-4470)cGt>cAt		acetyl-CoA carboxylase beta	Biotin(DB00121)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149	127	135		4469	4.8	1	12		135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACACB	NM_001093.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1490/2459	109674992	2,13004	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.chr12:109674992G>A	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.4469G>A	12.37:g.109674992G>A	ENSP00000341044:p.Arg1490His					ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H	p.R1490H			O00763	ACACB_HUMAN			34	4588	+			1490					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4469G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295524	0.95574	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95195	0.8311	10	0.87932	D	0	.	18.6363	0.91379	0.0:0.0:1.0:0.0	.	1490	O00763	ACACB_HUMAN	H	1490;1490;1420;721;156	ENSP00000341044:R1490H;ENSP00000367079:R1490H;ENSP00000367085:R1420H;ENSP00000444075:R156H	ENSP00000341044:R1490H	R	+	2	0	ACACB	108159375	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.798000	0.99111	2.586000	0.87340	0.555000	0.69702	CGT		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		123	506	0	0	0	1	0	123	506					A	109674992	G	A	109674992	3	1	79	1	0	0	0	0	1	0	0	0	107	1145	40	1	4599	1	ACACB	12	109674992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30375	109674992	24176903	13752	24069											
FOXN4	121643	broad.mit.edu	37	chr12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacggccactgtggtggCgtgagtcagcacgggggcct	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	331					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(991-993)Gcc>Acc		forkhead box N4							19	15	16					12																	109719515		2182	4275	6457	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719515C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.991G>A	12.37:g.109719515C>T	ENSP00000299162:p.Ala331Thr					FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	p.A331T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1095	-			331					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.991G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832846	0.16820	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95272	-3.66;-3.24	5.29	1.2	0.21068	.	1.572910	0.03385	N	0.200953	D	0.89812	0.6823	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.012	B;B	0.10450	0.005;0.005	T	0.73427	-0.3986	10	0.15066	T	0.55	-15.7102	2.2101	0.03945	0.1578:0.5154:0.1543:0.1725	.	331;331	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	151;331	ENSP00000347354:A151T;ENSP00000299162:A331T	ENSP00000299162:A331T	A	-	1	0	FOXN4	108203898	0.011000	0.17503	0.022000	0.16811	0.301000	0.27625	0.172000	0.16704	0.009000	0.14813	-0.234000	0.12200	GCC		0.677	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		17	114	0	0	0	1	0	17	114					T	109719515	C	T	109719515	3	4	79	1	0	0	0	0	1	0	0	0	6049	768	27	1	570	1	FOXN4	12	109719515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44523	109719515	24132380	13753	24070											
FOXN4	121643	broad.mit.edu	37	chr12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctcctcctccatcttgtCgatgcgggccaggttcagag	10	14	3	1	rs373055287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612																																						ENST00000299162.5																			2	Substitution - Missense(2)	p.D276N(1)|p.D96N(1)	large_intestine(2)	large_intestine(5)|lung(9)|ovary(2)	16						c.(826-828)Gac>Aac		forkhead box N4		C	ASN/ASP	0,4406		0,0,2203	82	65	71		826	3.8	1	12		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN4	NM_213596.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	276/518	109723184	1,13005	2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723184C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.826G>A	12.37:g.109723184C>T	ENSP00000299162:p.Asp276Asn					FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	p.D276N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			8	930	-			276					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.826G>A	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	FOXN4|FOXN4	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		7	161	0	0	0	1	0	7	161					T	109723184	C	T	109723184	3	4	79	1	0	0	0	0	1	0	0	0	6049	884	31	1	739	1	FOXN4	12	109723184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	109723184	24128711	13754	24071											
MYO1H	283446	broad.mit.edu	37	chr12	109843753	109843753	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggaattattgccagtgtCttacacctggggaacattgg	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109843753C>A	ENST00000431443.2	+	7	828	c.828C>A	c.(826-828)gtC>gtA	p.V276V	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Silent_p.V276V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	276	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						TTGCCAGTGTCTTACACCTGG	0.483																																						ENST00000310903.5																			0				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						c.(826-828)gtC>gtA		myosin IH							94	86	88					12																	109843753		1910	4126	6036	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109843753C>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.828C>A	12.37:g.109843753C>A						MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.V276V	p.V276V			B4DNW6	B4DNW6_HUMAN			8	934	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.828C>A																																																																																					0.483	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		6	190	1	0	2.0095e-06	1	2.07161e-06	6	190					A	109843753	C	A	109843753	2	1	79	1	0	0	0	0	0	0	0	1	10116	900	32	3		3	MYO1H	12	109843753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120569	109843753	24008142	13755	24072											
UBE3B	89910	broad.mit.edu	37	chr12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatgaagggggtcatcCgtgtgaagtttgtcaatgac	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	711	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(2131-2133)Cgt>Tgt		ubiquitin protein ligase E3B							128	115	119					12																	109959007		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109959007C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2131C>T	12.37:g.109959007C>T	ENSP00000340596:p.Arg711Cys					UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			20	2726	+			711			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.2131C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980821	0.74474	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.46819	0.86;0.86;0.86	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.87932	D	0	-7.1982	14.774	0.69703	0.1532:0.8468:0.0:0.0	.	711	Q7Z3V4	UBE3B_HUMAN	C	711;711;711;138;6	ENSP00000391529:R711C;ENSP00000443131:R711C;ENSP00000340596:R711C	ENSP00000340596:R711C	R	+	1	0	UBE3B	108443390	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	4.473000	0.60196	2.810000	0.96702	0.655000	0.94253	CGT		0.502	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		145	490	0	0	0	1	0	145	490					T	109959007	C	T	109959007	3	4	79	1	0	0	0	0	1	0	0	0	16934	652	23	1	2201	1	UBE3B	12	109959007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115254	109959007	23892888	13756	24073											
UBE3B	89910	broad.mit.edu	37	chr12	109967770	109967770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacagctgccctcattagCggattccgttccattatcaa	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000434735.2_Silent_p.S901S|UBE3B_ENST00000535089.1_5'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	901	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(2701-2703)agC>agT		ubiquitin protein ligase E3B							181	157	165					12																	109967770		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109967770C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2703C>T	12.37:g.109967770C>T						UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	p.S901S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			25	3298	+			901			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.2703C>T	CCDS9129.1																																																																																				0.448	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		163	489	0	0	0	1	0	163	489					T	109967770	C	T	109967770	2	4	79	1	0	0	0	0	0	0	0	1	16934	767	27	1		1	UBE3B	12	109967770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8763	109967770	23884125	13757	24074											
MVK	4598	broad.mit.edu	37	chr12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcaagggaagatttcatCcttaaagaggtaacctgggg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539575.1_Missense_Mutation_p.S171F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	223					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(667-669)tCc>tTc		mevalonate kinase							77	74	75					12																	110024595		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110024595C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.668C>T	12.37:g.110024595C>T	ENSP00000228510:p.Ser223Phe					MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000541384.1_Missense_Mutation_p.S29F	p.S223F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			7	744	+			223						Missense_Mutation	SNP	ENST00000228510.3	37	c.668C>T	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685787	0.47991	.	.	ENSG00000110921	ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D	0.97791	-4.54;-4.37;-4.37;-4.38	4.83	3.01	0.34805	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.699813	0.14788	N	0.298383	D	0.95560	0.8557	L	0.59436	1.845	0.09310	N	1	B;D	0.55172	0.007;0.97	B;B	0.42738	0.009;0.396	D	0.90079	0.4169	10	0.51188	T	0.08	1.0E-4	7.2939	0.26383	0.0:0.8002:0.0:0.1998	.	171;223	F5H8H2;Q03426	.;KIME_HUMAN	F	223;171;171;29	ENSP00000228510:S223F;ENSP00000376487:S171F;ENSP00000443551:S171F;ENSP00000443182:S29F	ENSP00000228510:S223F	S	+	2	0	MVK	108508978	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	0.750000	0.26334	0.629000	0.30376	0.655000	0.94253	TCC		0.512	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		13	250	0	0	0	1	0	13	250					T	110024595	C	T	110024595	3	4	79	1	0	0	0	0	1	0	0	0	10036	855	30	2	690	2	MVK	12	110024595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56825	110024595	23827300	13758	24075											
TRPV4	59341	broad.mit.edu	37	chr12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaccatctccccagagCggaaggccttcctcaggaat	11	14	2	2	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTCCCCAGAGCGGAAGGCCTT	0.662																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2269-2271)cGc>cAc		transient receptor potential cation channel, subfamily V, member 4		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	65	73		2129,2168,1949,2270,2090	4.8	1	12	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	710/825,723/838,650/765,757/872,697/812	110224581	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110224581C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2270G>A	12.37:g.110224581C>T	ENSP00000406191:p.Arg757His					TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H	p.R757H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			13	2364	-			757					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2270G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090065	0.94149	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.997	D;D;D;P;P	0.91635	0.999;0.998;0.999;0.764;0.829	D	0.94852	0.8014	10	0.62326	D	0.03	-31.3539	16.8762	0.86052	0.0:1.0:0.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	757;757;710;697;650;697;710;723	ENSP00000406191:R757H;ENSP00000261740:R757H;ENSP00000376480:R710H;ENSP00000319003:R697H;ENSP00000443611:R650H;ENSP00000442738:R697H;ENSP00000442167:R710H;ENSP00000444336:R723H	ENSP00000261740:R757H	R	-	2	0	TRPV4	108708964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.170000	0.77587	2.645000	0.89757	0.655000	0.94253	CGC		0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		11	323	0	0	0	1	0	11	323					T	110224581	C	T	110224581	3	4	79	1	0	0	0	0	1	0	0	0	16651	768	27	1	357	1	TRPV4	12	110224581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199986	110224581	23627314	13759	24076											
TRPV4	59341	broad.mit.edu	37	chr12	110246189	110246189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtggagccccgggacacGatgtcaaagaggataggccg	16	10	1	1	rs368606075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	157					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGGGACACGATGTCAAAGA	0.612																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(469-471)atC>atT		transient receptor potential cation channel, subfamily V, member 4		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	65	58	60		471,369,471,471,471	0.6	1	12		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	157/825,123/838,157/765,157/872,157/812	110246189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246189G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.471C>T	12.37:g.110246189G>A						TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I	p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			2	565	-			157					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.471C>T	CCDS9134.1																																																																																				0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		73	264	0	0	0	1	0	73	264					A	110246189	G	A	110246189	2	1	79	1	0	0	0	0	0	0	0	1	16651	1048	37	1		1	TRPV4	12	110246189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21608	110246189	23605706	13760	24077											
GIT2	9815	broad.mit.edu	37	chr12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgtctgtgtactcagAaccagtttgcacctgatata	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000355312.3	-	15	1467	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	490					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1318-1320)Tct>Cct		G protein-coupled receptor kinase interacting ArfGAP 2							151	138	142					12																	110385234		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110385234A>G	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1468T>C	12.37:g.110385234A>G	ENSP00000347464:p.Ser490Pro					GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000355312.3_Missense_Mutation_p.S490P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000547815.1_3'UTR	p.S440P			Q14161	GIT2_HUMAN			14	1482	-			490					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1318T>C	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859134	0.32884	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73469	-0.68;-0.67;-0.75;-0.75;-0.71;-0.68;-0.7	5.97	2.31	0.28768	.	0.321561	0.39407	N	0.001373	T	0.55081	0.1898	N	0.21097	0.63	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.0;0.0;0.0	T	0.34551	-0.9824	10	0.29301	T	0.29	.	6.4932	0.22127	0.7301:0.1324:0.1375:0.0	.	442;442;490;428;490	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	P	490;440;442;410;442;490;439;428	ENSP00000347464:S490P;ENSP00000353312:S440P;ENSP00000346585:S442P;ENSP00000340938:S410P;ENSP00000391813:S442P;ENSP00000354282:S490P;ENSP00000448832:S439P	ENSP00000340938:S410P	S	-	1	0	GIT2	108869617	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.569000	0.23638	0.156000	0.19299	-0.472000	0.04984	TCT		0.493	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		91	432	0	0	0	1	0	91	432					G	110385234	A	G	110385234	3	3	79	1	0	0	0	0	1	0	0	0	6426	246	9	4	835	4	GIT2	12	110385234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139045	110385234	23466661	13761	24078											
ANKRD13A	88455	broad.mit.edu	37	chr12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctagttttacatgaggCtgtgagcactggcgatcctg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	81						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(241-243)gCt>gTt		ankyrin repeat domain 13A							105	88	94					12																	110450942		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110450942C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.242C>T	12.37:g.110450942C>T	ENSP00000261739:p.Ala81Val					ANKRD13A_ENST00000550404.1_3'UTR	p.A81V	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			3	408	+			81					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.242C>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189695	0.78789	.	.	ENSG00000076513	ENST00000261739	D	0.87491	-2.26	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.84846	2.72	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.999	P;D;D	0.87578	0.698;0.998;0.994	D	0.94044	0.7312	10	0.56958	D	0.05	-4.7707	19.4101	0.94667	0.0:1.0:0.0:0.0	.	81;81;81	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	V	81	ENSP00000261739:A81V	ENSP00000261739:A81V	A	+	2	0	ANKRD13A	108935325	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	GCT		0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		50	219	0	0	0	1	0	50	219					T	110450942	C	T	110450942	3	4	79	1	0	0	0	0	1	0	0	0	641	797	28	2	252	2	ANKRD13A	12	110450942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65708	110450942	23400953	13762	24079											
ATP2A2	488	broad.mit.edu	37	chr12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggaacagctttccaaagTcatctcccttatttgcattg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000539276.2	+	8	897	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A|ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	263					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTCCAAAGTCATCTCCCTT	0.448																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(706-708)gTc>gCc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							152	153	153					12																	110765515		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765515T>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.788T>C	12.37:g.110765515T>C	ENSP00000440045:p.Val263Ala					ATP2A2_ENST00000539276.2_Missense_Mutation_p.V263A|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A	p.V236A			P16615	AT2A2_HUMAN			7	1270	+			263					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.707T>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436419	0.62955	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.055142	0.64402	D	0.000001	D	0.84999	0.5597	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.19148	0.012;0.014;0.024	T	0.80605	-0.1308	10	0.41790	T	0.15	.	15.9151	0.79508	0.0:0.0:0.0:1.0	.	236;263;263	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	A	263;236;263	ENSP00000311186:V263A;ENSP00000378872:V236A;ENSP00000440045:V263A	ENSP00000311186:V263A	V	+	2	0	ATP2A2	109249898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.213000	0.71641	0.477000	0.44152	GTC		0.448	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		33	949	0	0	0	1	0	33	949					C	110765515	T	C	110765515	3	2	79	1	0	0	0	0	1	0	0	0	1138	1667	58	4	818	4	ATP2A2	12	110765515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	314573	110765515	23086380	13763	24080											
ATP2A2	488	broad.mit.edu	37	chr12	110778497	110778497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttggctgcgtgggcatgCtggatcctccgagaatcgag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000539276.2	+	14	1904	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_ENST00000308664.6_Silent_p.L599L|ATP2A2_ENST00000395494.2_Silent_p.L572L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	599					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGTGGGCATGCTGGATCCTCC	0.498																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1714-1716)Ctg>Ttg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							110	113	112					12																	110778497		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778497C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1795C>T	12.37:g.110778497C>T						ATP2A2_ENST00000539276.2_Silent_p.L599L|ATP2A2_ENST00000308664.6_Silent_p.L599L	p.L572L			P16615	AT2A2_HUMAN			13	2277	+			599					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1714C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617351	0.14129	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	4	.	.	.	.	15.4358	0.75146	0.0:0.9337:0.0:0.0663	.	.	.	.	V	489	.	.	A	+	2	0	ATP2A2	109262880	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.300000	0.51834	1.583000	0.49898	-0.140000	0.14226	GCT		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		165	628	0	0	0	1	0	165	628					T	110778497	C	T	110778497	2	4	79	1	0	0	0	0	0	0	0	1	1138	796	28	2		2	ATP2A2	12	110778497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12982	110778497	23073398	13764	24081											
ATP2A2	488	broad.mit.edu	37	chr12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaatcctgctcgttctCggcatgcaccgatgggattt	9	13	1	0	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000539276.2	+	20	3132	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1008					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTCGTTCTCGGCATGCACC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19766	0.0		0.001	False		,,,				2504	0.0					ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2941-2943)tCg>tTg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2		C	,LEU/SER	0,4406		0,0,2203	91	73	79		,3023	4.3	0.9	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ATP2A2	NM_001681.3,NM_170665.3	,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,1008/1043	110784169	1,13005	2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784169C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3023C>T	12.37:g.110784169C>T	ENSP00000440045:p.Ser1008Leu					ATP2A2_ENST00000539276.2_Missense_Mutation_p.S1008L|ATP2A2_ENST00000308664.6_Intron	p.S981L			P16615	AT2A2_HUMAN			19	3505	+			1008					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2942C>T	CCDS9144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070835	0.36566	0.0	1.16E-4	ENSG00000174437	ENST00000395494;ENST00000539276	D;D	0.94723	-3.5;-3.47	6.17	4.32	0.51571	.	0.230717	0.46442	D	0.000287	D	0.86121	0.5857	N	0.08118	0	0.36457	D	0.866463	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.80885	-0.1182	9	.	.	.	.	13.1912	0.59711	0.1222:0.7457:0.1321:0.0	.	981;1008	P16615-4;P16615	.;AT2A2_HUMAN	L	981;1008	ENSP00000378872:S981L;ENSP00000440045:S1008L	.	S	+	2	0	ATP2A2	109268552	1.000000	0.71417	0.865000	0.33974	0.995000	0.86356	3.238000	0.51352	0.894000	0.36317	0.655000	0.94253	TCG		0.527	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		76	184	0	0	0	1	0	76	184					T	110784169	C	T	110784169	3	4	79	1	0	0	0	0	1	0	0	0	1138	893	31	1	3101	1	ATP2A2	12	110784169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	110784169	23067726	13765	24082											
ATP2A2	488	broad.mit.edu	37	chr12	110784227	110784227	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcataatgcccctggtgatCtgggtctatagcacagacac	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000539276.2	+	20	3190	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Silent_p.I1000I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1027					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGTGATCTGGGTCTATA	0.433																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2998-3000)atC>atA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							86	75	79					12																	110784227		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784227C>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3081C>A	12.37:g.110784227C>A						ATP2A2_ENST00000539276.2_Silent_p.I1027I|ATP2A2_ENST00000308664.6_Intron	p.I1000I			P16615	AT2A2_HUMAN			19	3563	+			1027					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.3000C>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291400	0.10567	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	.	7.1602	0.25659	0.1312:0.6775:0.126:0.0653	.	.	.	.	M	918	.	.	L	+	1	2	ATP2A2	109268610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	0.862000	0.35528	0.655000	0.94253	CTG		0.433	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		94	243	1	0	1.97301e-41	1	2.39674e-41	94	243					A	110784227	C	A	110784227	2	1	79	1	0	0	0	0	0	0	0	1	1138	903	32	3		3	ATP2A2	12	110784227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	110784227	23067668	13766	24083											
RAD9B	144715	broad.mit.edu	37	chr12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtggatggagatgtcAgtgaagtatcagaaagcagt	14	3	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409778.3	+	8	877	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	351					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453																																						ENST00000409246.1																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(844-846)Agt>Ggt		RAD9 homolog B (S. pombe)							78	62	67					12																	110960151		2203	4300	6503	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110960151A>G		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.853A>G	12.37:g.110960151A>G	ENSP00000386697:p.Ser285Gly					RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G|RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409778.3_Missense_Mutation_p.S285G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G	p.S282G			Q6WBX8	RAD9B_HUMAN			10	1169	+			351					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37	c.844A>G		.	.	.	.	.	.	.	.	.	.	A	10.97	1.501926	0.26949	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.12	4.98	-4.0	0.04057	.	1.174800	0.06233	N	0.688940	T	0.12944	0.0314	N	0.25380	0.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30937	-0.9961	10	0.30854	T	0.27	0.0269	0.5283	0.00624	0.2512:0.1341:0.2771:0.3376	.	285;354;351	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	G	282;354;354;282;285	ENSP00000387329:S282G;ENSP00000376440:S354G;ENSP00000386434:S354G;ENSP00000386629:S282G;ENSP00000386697:S285G	ENSP00000376440:S354G	S	+	1	0	RAD9B	109444534	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.101000	0.10973	-0.288000	0.09051	0.459000	0.35465	AGT		0.453	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		38	86	0	0	0	1	0	38	86					G	110960151	A	G	110960151	3	3	79	1	0	0	0	0	1	0	0	0	13046	188	7	4	1098	4	RAD9B	12	110960151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175924	110960151	22891744	13767	24084											
TCTN1	79600	broad.mit.edu	37	chr12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctgatctctcattcGttctggggacagttagcagc	10	11	3	1	rs199967338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000551590.1	+	9	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I			Q2MV58	TECT1_HUMAN	tectonic family member 1	347					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTCTCATTCGTTCTGGGGAC	0.388																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(1039-1041)Gtt>Att		tectonic family member 1							163	156	158					12																	111078889		1957	4144	6101	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111078889G>A	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1039G>A	12.37:g.111078889G>A	ENSP00000448735:p.Val347Ile					HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I	p.V347I			Q2MV58	TECT1_HUMAN			9	1195	+			347					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1039G>A	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989356	0.74589	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.87	3.98	0.46160	Domain of unknown function DUF1619 (1);	0.346611	0.30483	N	0.009533	T	0.72692	0.3492	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.29862	0.259;0.097;0.097;0.226;0.118	B;B;B;B;B	0.29524	0.103;0.02;0.02;0.047;0.034	T	0.56300	-0.8002	10	0.26408	T	0.33	-17.4742	13.4685	0.61270	0.1086:0.3326:0.5588:0.0	.	347;333;347;287;291	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	I	287;347;333;169;169;347;291	ENSP00000448735:V347I;ENSP00000380775:V333I;ENSP00000366882:V169I;ENSP00000380779:V347I	ENSP00000366882:V169I	V	+	1	0	TCTN1	109563272	0.990000	0.36364	0.067000	0.19924	0.311000	0.27955	1.586000	0.36611	0.358000	0.24211	-0.120000	0.15030	GTT		0.388	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		124	589	0	0	0	1	0	124	589					A	111078889	G	A	111078889	3	1	79	1	0	0	0	0	1	0	0	0	15774	1145	40	1	1245	1	TCTN1	12	111078889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118738	111078889	22773006	13768	24085											
CCDC63	160762	broad.mit.edu	37	chr12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagatgctgaccactaAtgccaagctccggaaggaga	11	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000308208.5	+	6	766	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	175										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGACCACTAATGCCAAGCTC	0.458																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(523-525)aAt>aCt		coiled-coil domain containing 63							148	139	142					12																	111317744		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111317744A>C	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.524A>C	12.37:g.111317744A>C	ENSP00000312399:p.Asn175Thr					CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T	p.N175T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			6	766	+			175					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.524A>C	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511850	0.64522	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.74632	-0.82;-0.86;-0.8	5.04	5.04	0.67666	.	0.247417	0.45126	D	0.000382	D	0.84442	0.5473	M	0.77820	2.39	0.36117	D	0.845229	D	0.76494	0.999	D	0.67382	0.951	D	0.89232	0.3578	10	0.72032	D	0.01	.	12.1587	0.54091	1.0:0.0:0.0:0.0	.	175	Q8NA47	CCD63_HUMAN	T	135;175;96	ENSP00000445881:N135T;ENSP00000312399:N175T;ENSP00000450217:N96T	ENSP00000312399:N175T	N	+	2	0	CCDC63	109802127	0.997000	0.39634	0.161000	0.22692	0.870000	0.49936	5.743000	0.68655	1.911000	0.55334	0.379000	0.24179	AAT		0.458	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		226	609	0	0	0	1	0	226	609					C	111317744	A	C	111317744	3	2	79	1	0	0	0	0	1	0	0	0	2841	101	4	4	542	4	CCDC63	12	111317744	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238855	111317744	22534151	13769	24086											
MYL2	4633	broad.mit.edu	37	chr12	111348974	111348974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggcggcgaacatctgGtcaacctgcaatgagccagc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(406-408)gaC>gaT		myosin, light chain 2, regulatory, cardiac, slow							125	108	114					12																	111348974		2203	4300	6503	SO:0001819	synonymous_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348974G>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.408C>T	12.37:g.111348974G>A						MYL2_ENST00000548438.1_Silent_p.D122D	p.D136D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			7	455	-			136			EF-hand 3.		Q16123	Silent	SNP	ENST00000228841.8	37	c.408C>T	CCDS31901.1																																																																																				0.612	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		20	662	0	0	0	1	0	20	662					A	111348974	G	A	111348974	2	1	79	1	0	0	0	0	0	0	0	1	10088	1252	44	2		2	MYL2	12	111348974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31230	111348974	22502921	13770	24087											
CUX2	23316	broad.mit.edu	37	chr12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatcaccccgagaatcCgcacgcctgagacaggctca	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1921-1923)Cgc>Tgc		cut-like homeobox 2							59	67	65					12																	111749924		2089	4212	6301	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111749924C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1921C>T	12.37:g.111749924C>T	ENSP00000261726:p.Arg641Cys						p.R641C	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			16	2075	+			641					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1921C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	153	0	0	0	1	0	8	153					T	111749924	C	T	111749924	3	4	79	1	0	0	0	0	1	0	0	0	4076	652	23	1	1983	1	CUX2	12	111749924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400950	111749924	22101971	13771	24088											
CUX2	23316	broad.mit.edu	37	chr12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactacccggcctacgtgCcgcgcaccctgaagcccacc	8	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCTACGTGCCGCGCACCCT	0.716																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2617-2619)Ccg>Tcg		cut-like homeobox 2							7	8	8					12																	111758430		2136	4237	6373	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758430C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2617C>T	12.37:g.111758430C>T	ENSP00000261726:p.Pro873Ser						p.P873S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2771	+			873					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2617C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159415	0.78226	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	4.13	4.13	0.48395	.	0.111705	0.64402	D	0.000007	T	0.50582	0.1624	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38972	-0.9636	10	0.12430	T	0.62	-18.0431	16.4424	0.83906	0.0:1.0:0.0:0.0	.	873	O14529	CUX2_HUMAN	S	873	ENSP00000261726:P873S	ENSP00000261726:P873S	P	+	1	0	CUX2	110242813	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	5.678000	0.68153	1.866000	0.54105	0.289000	0.19496	CCG		0.716	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	104	0	0	0	1	0	12	104					T	111758430	C	T	111758430	3	4	79	1	0	0	0	0	1	0	0	0	4076	739	26	2	2683	2	CUX2	12	111758430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8506	111758430	22093465	13772	24089											
CUX2	23316	broad.mit.edu	37	chr12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgacccccgagcagtacGagctgtacatgtaccgtgag	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	889					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGCAGTACGAGCTGTACAT	0.682																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2665-2667)Gag>Aag		cut-like homeobox 2							15	15	15					12																	111758478		2196	4291	6487	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758478G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2665G>A	12.37:g.111758478G>A	ENSP00000261726:p.Glu889Lys						p.E889K	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2819	+			889					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2665G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406078	0.83230	.	.	ENSG00000111249	ENST00000261726	T	0.57907	0.37	4.45	4.45	0.53987	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.112719	0.64402	D	0.000013	T	0.64360	0.2591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69000	-0.5261	10	0.72032	D	0.01	-8.6409	17.126	0.86714	0.0:0.0:1.0:0.0	.	889	O14529	CUX2_HUMAN	K	889	ENSP00000261726:E889K	ENSP00000261726:E889K	E	+	1	0	CUX2	110242861	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	9.347000	0.97059	2.044000	0.60594	0.289000	0.19496	GAG		0.682	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		35	97	0	0	0	1	0	35	97					A	111758478	G	A	111758478	3	1	79	1	0	0	0	0	1	0	0	0	4076	1059	37	1	2731	1	CUX2	12	111758478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	111758478	22093417	13773	24090											
CUX2	23316	broad.mit.edu	37	chr12	111776115	111776115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgtttggggaaagcatCctgggtctgacacagggctc	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3220-3222)atC>atT		cut-like homeobox 2							48	54	52					12																	111776115		1954	4155	6109	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776115C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3222C>T	12.37:g.111776115C>T							p.I1074I	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			20	3376	+			1074					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3222C>T	CCDS41837.1																																																																																				0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		51	328	0	0	0	1	0	51	328					T	111776115	C	T	111776115	2	4	79	1	0	0	0	0	0	0	0	1	4076	845	30	2		2	CUX2	12	111776115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17637	111776115	22075780	13774	24091											
CUX2	23316	broad.mit.edu	37	chr12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagtgaggccggggagCgacttcacccggacccttta	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1372	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCGGGGAGCGACTTCACCC	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4114-4116)Cga>Tga		cut-like homeobox 2							57	68	65					12																	111785782		1995	4167	6162	SO:0001587	stop_gained	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785782C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4114C>T	12.37:g.111785782C>T	ENSP00000261726:p.Arg1372*						p.R1372*	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4268	+			1372			Pro-rich.		A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	c.4114C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	39	7.352241	0.98231	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.44	2.58	0.30949	.	0.320397	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.2563	8.7956	0.34876	0.2665:0.6619:0.0:0.0716	.	.	.	.	X	1372	.	ENSP00000261726:R1372X	R	+	1	2	CUX2	110270165	0.999000	0.42202	0.245000	0.24217	0.302000	0.27658	1.873000	0.39558	0.248000	0.21435	0.557000	0.71058	CGA		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		30	700	0	0	0	1	0	30	700					T	111785782	C	T	111785782	4	4	79	1	0	0	0	0	0	1	0	0	4076	760	27	1	4200	1	CUX2	12	111785782	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9667	111785782	22066113	13775	24092											
ATXN2	6311	broad.mit.edu	37	chr12	111895132	111895132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggtagcgttagggtgCgcatactgctgagcaaggga	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3400-3402)gcG>gcA		ataxin 2							227	186	200					12																	111895132		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895132C>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3402G>A	12.37:g.111895132C>T						ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000535949.1_Silent_p.A827A	p.A1134A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			22	3563	-			1134					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3402G>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		35	245	0	0	0	1	0	35	245					T	111895132	C	T	111895132	2	4	79	1	0	0	0	0	0	0	0	1	1212	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109350	111895132	21956763	13776	24093											
ACAD10	80724	broad.mit.edu	37	chr12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgccccacaggcaGcaggagttatagctccgttc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000313698.4	+	13	2053	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000455480.2_Missense_Mutation_p.S664N	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	633						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACAGGCAGCAGGAGTTAT	0.567																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1990-1992)aGc>aAc		acyl-CoA dehydrogenase family, member 10							75	68	70					12																	112182630		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182630G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1898G>A	12.37:g.112182630G>A	ENSP00000325137:p.Ser633Asn					ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S633N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N	p.S664N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2168	+			633					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1991G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496691	0.26861	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96300	-3.97;3.27;-3.58;-3.58	5.42	-4.51	0.03483	.	1.722210	0.02874	N	0.132029	D	0.89283	0.6671	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.18263	0.021;0.0;0.001	D	0.83890	0.0284	10	0.16896	T	0.51	.	6.0316	0.19683	0.0:0.2892:0.3121:0.3986	.	664;633;633	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	235;633;633;664;26;633;214	ENSP00000376411:S235N;ENSP00000446959:S633N;ENSP00000389813:S664N;ENSP00000325137:S633N	ENSP00000325137:S633N	S	+	2	0	ACAD10	110667013	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.299000	0.02754	-1.483000	0.01858	-0.128000	0.14901	AGC		0.567	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		55	320	0	0	0	1	0	55	320					A	112182630	G	A	112182630	3	1	79	1	0	0	0	0	1	0	0	0	108	971	34	2	2041	2	ACAD10	12	112182630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287498	112182630	21669265	13777	24094											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaggctcacgcggaaCagttggccaacatgagaatc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000551404.2	+	11	1114	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.Q336*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	336					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1006-1008)Cag>Tag		mitogen-activated protein kinase-activated protein kinase 5							132	133	133					12																	112326328		1993	4186	6179	SO:0001587	stop_gained	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112326328C>T	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1006C>T	12.37:g.112326328C>T	ENSP00000449381:p.Gln336*					MAPKAPK5_ENST00000551404.2_Nonsense_Mutation_p.Q336*	p.Q336*	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			11	1762	+			336					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	ENST00000551404.2	37	c.1006C>T	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	41	8.908057	0.98998	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	336;336;336;336;17	.	ENSP00000202788:Q336X	Q	+	1	0	MAPKAPK5	110810711	1.000000	0.71417	0.994000	0.49952	0.660000	0.38997	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	CAG		0.493	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		129	418	0	0	0	1	0	129	418					T	112326328	C	T	112326328	4	4	79	1	0	0	0	0	0	1	0	0	9332	479	17	2	1048	2	MAPKAPK5	12	112326328	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143698	112326328	21525567	13778	24095											
NAA25	80018	broad.mit.edu	37	chr12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggataccccattctcgGcagtcttctccgagttcttt	10	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	716						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCATTCTCGGCAGTCTTCTC	0.478																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2146-2148)gCc>gTc		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							85	88	87					12																	112481532		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112481532G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2147C>T	12.37:g.112481532G>A	ENSP00000261745:p.Ala716Val						p.A716V	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2395	-			716					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2147C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444247	0.63067	.	.	ENSG00000111300	ENST00000261745	T	0.23950	1.88	5.79	5.79	0.91817	.	0.303172	0.36482	N	0.002567	T	0.20861	0.0502	N	0.19112	0.55	0.28563	N	0.911021	B;B	0.18741	0.02;0.03	B;B	0.15870	0.014;0.014	T	0.06552	-1.0820	10	0.33141	T	0.24	-1.2518	20.0473	0.97613	0.0:0.0:1.0:0.0	.	716;716	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	716	ENSP00000261745:A716V	ENSP00000261745:A716V	A	-	2	0	NAA25	110965915	1.000000	0.71417	0.959000	0.39883	0.914000	0.54420	5.923000	0.70045	2.722000	0.93159	0.655000	0.94253	GCC		0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		49	536	0	0	0	1	0	49	536					A	112481532	G	A	112481532	3	1	79	1	0	0	0	0	1	0	0	0	10162	1203	42	2	799	2	NAA25	12	112481532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155204	112481532	21370363	13779	24096											
NAA25	80018	broad.mit.edu	37	chr12	112509715	112509715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagtttgtactcatcGttacaaccttgacttcgtaa	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	340						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTACTCATCGTTACAACCTT	0.423																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1018-1020)aaC>aaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							140	114	123					12																	112509715		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112509715G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1020C>T	12.37:g.112509715G>A							p.N340N	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1268	-			340					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.1020C>T	CCDS9159.1																																																																																				0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	181	0	0	0	1	0	8	181					A	112509715	G	A	112509715	2	1	79	1	0	0	0	0	0	0	0	1	10162	1136	40	1		1	NAA25	12	112509715	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28183	112509715	21342180	13780	24097											
NAA25	80018	broad.mit.edu	37	chr12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtaaacgcctaatcagCtccaatttagctagatgtgg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	329						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCCTAATCAGCTCCAATTTAG	0.413																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(985-987)gaG>gaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							162	131	142					12																	112509748		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112509748C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.987G>T	12.37:g.112509748C>A	ENSP00000261745:p.Glu329Asp						p.E329D	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1235	-			329					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.987G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489392	0.84962	.	.	ENSG00000111300	ENST00000261745	T	0.51817	0.69	5.8	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61327	-0.7085	10	0.23891	T	0.37	-15.658	9.4966	0.38993	0.0:0.7761:0.0:0.2239	.	329	Q14CX7	NAA25_HUMAN	D	329	ENSP00000261745:E329D	ENSP00000261745:E329D	E	-	3	2	NAA25	110994131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.156000	0.31712	0.730000	0.32425	0.655000	0.94253	GAG		0.413	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		53	159	1	0	9.59835e-30	1	1.1228e-29	53	159					A	112509748	C	A	112509748	3	1	79	1	0	0	0	0	1	0	0	0	10162	796	28	3	1991	3	NAA25	12	112509748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	112509748	21342147	13781	24098											
TRAFD1	10906	broad.mit.edu	37	chr12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccccaaagagggtggtgaaGagagtgcaaacttggacttc	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	236					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGTGGTGAAGAGAGTGCAAA	0.488																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(706-708)Gag>Tag		TRAF-type zinc finger domain containing 1							99	103	101					12																	112579955		2203	4300	6503	SO:0001587	stop_gained	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112579955G>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.706G>T	12.37:g.112579955G>T	ENSP00000257604:p.Glu236*					TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			6	1323	+			236					A8K5L6|B4DI89	Nonsense_Mutation	SNP	ENST00000257604.5	37	c.706G>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927562	0.73327	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	.	.	.	5.4	4.5	0.54988	.	0.524979	0.20233	N	0.096455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2931	7.5553	0.27820	0.0927:0.2192:0.6881:0.0	.	.	.	.	X	236;236;236;30	.	ENSP00000257604:E236X	E	+	1	0	TRAFD1	111064338	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	2.653000	0.46691	1.261000	0.44149	0.467000	0.42956	GAG		0.488	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		84	278	1	0	7.63117e-38	1	9.17446e-38	84	278					T	112579955	G	T	112579955	4	4	79	1	0	0	0	0	0	1	0	0	16500	943	33	3	724	3	TRAFD1	12	112579955	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70207	112579955	21271940	13782	24099											
C12orf51	283450	broad.mit.edu	37	chr12	112622084	112622084	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcccatgtccgacaccgaGgccgtctctgcattgtccag	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112622084G>T	ENST00000430131.2	-	60	10565	c.9420C>A	c.(9418-9420)gcC>gcA	p.A3140A	HECTD4_ENST00000377560.5_Silent_p.A3390A|HECTD4_ENST00000550722.1_Silent_p.A3416A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3140					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCGACACCGAGGCCGTCTCTG	0.652																																						ENST00000550722.1																			0											c.(10246-10248)gcC>gcA		HECT domain containing E3 ubiquitin protein ligase 4							51	59	57					12																	112622084		1980	4160	6140	SO:0001819	synonymous_variant	283450							g.chr12:112622084G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9420C>A	12.37:g.112622084G>T						HECTD4_ENST00000377560.5_Silent_p.A3390A|HECTD4_ENST00000430131.2_Silent_p.A3140A	p.A3416A	NM_001109662.3	NP_001103132.3					61	10643	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10248C>A																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		99	566	1	0	2.179e-33	1	2.58256e-33	99	566					T	112622084	G	T	112622084	2	4	79	1	0	0	0	0	0	0	0	1	1701	987	35	3		3	C12orf51	12	112622084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42129	112622084	21229811	13783	24100											
C12orf51	283450	broad.mit.edu	37	chr12	112642296	112642296	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggaaagcaaaaccttttcGaactttatcaattgtgaact	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112642296G>A	ENST00000430131.2	-	52	8142	c.6997C>T	c.(6997-6999)Cga>Tga	p.R2333*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R2609*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2333					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R2583*(1)									AAACCTTTTCGAACTTTATCA	0.393																																						ENST00000550722.1																			1	Substitution - Nonsense(1)	p.R2583*(1)	large_intestine(1)								c.(7825-7827)Cga>Tga		HECT domain containing E3 ubiquitin protein ligase 4							100	102	102					12																	112642296		1925	4109	6034	SO:0001587	stop_gained	283450							g.chr12:112642296G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6997C>T	12.37:g.112642296G>A	ENSP00000404379:p.Arg2333*					HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R2333*	p.R2609*	NM_001109662.3	NP_001103132.3					53	8220	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.7825C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.053339	0.97241	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.02	6.02	0.97574	.	0.188661	0.34906	U	0.003584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	2583;2333;2609	.	ENSP00000366783:R2583X	R	-	1	2	C12orf51	111126679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.865000	0.98341	0.655000	0.94253	CGA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		19	347	0	0	0	1	0	19	347					A	112642296	G	A	112642296	4	1	79	1	0	0	0	0	0	1	0	0	1701	1066	37	1	5089	1	C12orf51	12	112642296	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20212	112642296	21209599	13784	24101											
C12orf51	283450	broad.mit.edu	37	chr12	112646316	112646316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagggatgtcatcatcGtcatcatcatcgctttcatc	7	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112646316G>A	ENST00000430131.2	-	50	7865	c.6720C>T	c.(6718-6720)gaC>gaT	p.D2240D	HECTD4_ENST00000377560.5_Silent_p.D2490D|HECTD4_ENST00000550722.1_Silent_p.D2516D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2240					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGtcatcatcgtcatcatcat	0.502																																						ENST00000550722.1																			0											c.(7546-7548)gaC>gaT		HECT domain containing E3 ubiquitin protein ligase 4							114	111	112					12																	112646316		2062	4227	6289	SO:0001819	synonymous_variant	283450							g.chr12:112646316G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6720C>T	12.37:g.112646316G>A						HECTD4_ENST00000377560.5_Silent_p.D2490D|HECTD4_ENST00000430131.2_Silent_p.D2240D	p.D2516D	NM_001109662.3	NP_001103132.3					51	7943	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7548C>T		.	.	.	.	.	.	.	.	.	.	G	8.261	0.811178	0.16537	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-4.34	0.03666	.	.	.	.	.	T	0.63885	0.2549	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64118	-0.6482	4	.	.	.	.	15.2279	0.73364	0.553:0.0:0.447:0.0	.	.	.	.	M	407	.	.	T	-	2	0	C12orf51	111130699	0.000000	0.05858	0.906000	0.35671	0.889000	0.51656	-1.995000	0.01472	-0.793000	0.04475	-0.136000	0.14681	ACG		0.502	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	294	0	0	0	1	0	22	294					A	112646316	G	A	112646316	2	1	79	1	0	0	0	0	0	0	0	1	1701	1136	40	1		1	C12orf51	12	112646316	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4020	112646316	21205579	13785	24102											
PTPN11	5781	broad.mit.edu	37	chr12	112919958	112919958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaggaacgtcaaagaaagCgccgctcatgactatacgct	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	391	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAAAGAAAGCGCCGCTCATG	0.398			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1171-1173)agC>agT		protein tyrosine phosphatase, non-receptor type 11							93	87	89					12																	112919958		2203	4298	6501	SO:0001819	synonymous_variant	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112919958C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1173C>T	12.37:g.112919958C>T						PTPN11_ENST00000392597.1_Silent_p.S391S	p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			10	1371	+			391			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1173C>T	CCDS9163.1																																																																																				0.398	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			85	407	0	0	0	1	0	85	407					T	112919958	C	T	112919958	2	4	79	1	0	0	0	0	0	0	0	1	12828	767	27	1		1	PTPN11	12	112919958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273642	112919958	20931937	13786	24103											
RPH3A	22895	broad.mit.edu	37	chr12	113328755	113328755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgggcatcatacgctgCgtgcacctggctgccatgga	13	11	1	0	rs199509912	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000447659.2_Silent_p.C525C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	574	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)		TCATACGCTGCGTGCACCTGG	0.582													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000389385.4																			0				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						c.(1720-1722)tgC>tgT		rabphilin 3A homolog (mouse)							124	83	97					12																	113328755		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113328755C>T	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.1722C>T	12.37:g.113328755C>T						RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C	p.C574C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	19	2219	+			574			C2 2.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.1722C>T	CCDS44979.1																																																																																				0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		47	121	0	0	0	1	0	47	121					T	113328755	C	T	113328755	2	4	79	1	0	0	0	0	0	0	0	1	13601	776	27	1		1	RPH3A	12	113328755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	408797	113328755	20523140	13787	24104											
OAS3	4940	broad.mit.edu	37	chr12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacagcagcttcagaagcCcaggttcaggtctaccccca	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1034	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3100-3102)cCc>cTc		2'-5'-oligoadenylate synthetase 3, 100kDa							34	34	34					12																	113405976		1913	4123	6036	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405976C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3101C>T	12.37:g.113405976C>T	ENSP00000228928:p.Pro1034Leu					RP1-71H24.1_ENST00000552784.1_RNA	p.P1034L	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			14	3280	+			1034			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3101C>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273682	0.40194	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.88	3.99	0.46301	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48732	0.1516	M	0.82517	2.595	0.80722	D	1	P	0.50617	0.937	P	0.45428	0.48	T	0.55823	-0.8080	9	0.66056	D	0.02	.	8.9477	0.35769	0.0:0.899:0.0:0.101	.	1034	Q9Y6K5	OAS3_HUMAN	L	1034;1033	ENSP00000228928:P1034L	ENSP00000228928:P1034L	P	+	2	0	OAS3	111890359	0.807000	0.29009	0.936000	0.37596	0.082000	0.17680	1.627000	0.37050	1.270000	0.44297	-0.136000	0.14681	CCC		0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			43	112	0	0	0	1	0	43	112					T	113405976	C	T	113405976	3	4	79	1	0	0	0	0	1	0	0	0	10843	623	22	2	3155	2	OAS3	12	113405976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77221	113405976	20445919	13788	24105											
OAS3	4940	broad.mit.edu	37	chr12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tataatacttccccaggctgCtgtgtgaagttgagaaaatc	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1086					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3256-3258)gCt>gAt		2'-5'-oligoadenylate synthetase 3, 100kDa							54	55	55					12																	113407771		1951	4141	6092	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113407771C>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3257C>A	12.37:g.113407771C>A	ENSP00000228928:p.Ala1086Asp					RP1-71H24.1_ENST00000552784.1_RNA	p.A1086D	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			16	3436	+			1086					Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3257C>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160159	0.21454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.08282	3.11	2.58	2.58	0.30949	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.09555	0.0235	M	0.64080	1.96	0.32173	N	0.581369	P	0.34587	0.458	B	0.31614	0.133	T	0.05037	-1.0910	9	0.44086	T	0.13	.	8.7834	0.34804	0.0:1.0:0.0:0.0	.	1086	Q9Y6K5	OAS3_HUMAN	D	1086;1085;65	ENSP00000228928:A1086D	ENSP00000228928:A1086D	A	+	2	0	OAS3	111892154	0.017000	0.18338	0.779000	0.31741	0.071000	0.16799	0.341000	0.19909	1.768000	0.52137	0.557000	0.71058	GCT		0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			10	46	1	0	0.00621372	1	0.0062537	10	46					A	113407771	C	A	113407771	3	1	79	1	0	0	0	0	1	0	0	0	10843	797	28	3	3319	3	OAS3	12	113407771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1795	113407771	20444124	13789	24106											
DTX1	1840	broad.mit.edu	37	chr12	113496015	113496015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtcacggccaggccaCggtgggctgatgcctgtgaa	15	12	1	2	rs377259444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	6					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(16-18)caC>caT		deltex homolog 1 (Drosophila)		C		0,4398		0,0,2199	36	30	32		18	-1.5	0.9	12		32	1,8595		0,1,4297	no	coding-synonymous	DTX1	NM_004416.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		6/621	113496015	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496015C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.18C>T	12.37:g.113496015C>T							p.H6H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	521	+			6					O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.18C>T	CCDS9164.1																																																																																				0.687	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			34	113	0	0	0	1	0	34	113					T	113496015	C	T	113496015	2	4	79	1	0	0	0	0	0	0	0	1	4809	535	19	1		1	DTX1	12	113496015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88244	113496015	20355880	13790	24107											
DTX1	1840	broad.mit.edu	37	chr12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggcggccctacacggCcaccgtgtgccaccacattg	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	42	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(124-126)gCc>gTc		deltex homolog 1 (Drosophila)							87	77	80					12																	113496122		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496122C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.125C>T	12.37:g.113496122C>T	ENSP00000257600:p.Ala42Val						p.A42V	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	628	+			42			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.125C>T	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191844	0.94923	.	.	ENSG00000135144	ENST00000257600	T	0.44083	0.93	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.48003	0.1476	M	0.64404	1.975	0.49299	D	0.999773	P	0.49447	0.924	P	0.47673	0.554	T	0.54470	-0.8289	10	0.51188	T	0.08	-6.7008	14.8783	0.70513	0.0:1.0:0.0:0.0	.	42	Q86Y01	DTX1_HUMAN	V	42	ENSP00000257600:A42V	ENSP00000257600:A42V	A	+	2	0	DTX1	111980505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.403000	0.66338	2.021000	0.59480	0.555000	0.69702	GCC		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			124	376	0	0	0	1	0	124	376					T	113496122	C	T	113496122	3	4	79	1	0	0	0	0	1	0	0	0	4809	739	26	2	127	2	DTX1	12	113496122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	113496122	20355773	13791	24108											
DTX1	1840	broad.mit.edu	37	chr12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttgtgccctacatcatcGacctgcagtccatgcaccag	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	75	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(223-225)Gac>Aac		deltex homolog 1 (Drosophila)							121	113	115					12																	113496220		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496220G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.223G>A	12.37:g.113496220G>A	ENSP00000257600:p.Asp75Asn						p.D75N	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	726	+			75			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.223G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000135144	ENST00000257600	T	0.56941	0.43	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.69823	2.125	0.51012	D	0.999909	D	0.76494	0.999	D	0.83275	0.996	T	0.70241	-0.4926	10	0.36615	T	0.2	-5.2327	15.2014	0.73139	0.0:0.0:1.0:0.0	.	75	Q86Y01	DTX1_HUMAN	N	75	ENSP00000257600:D75N	ENSP00000257600:D75N	D	+	1	0	DTX1	111980603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.104000	0.64026	0.555000	0.69702	GAC		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			117	566	0	0	0	1	0	117	566					A	113496220	G	A	113496220	3	1	79	1	0	0	0	0	1	0	0	0	4809	1058	37	1	225	1	DTX1	12	113496220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	113496220	20355675	13792	24109											
DTX1	1840	broad.mit.edu	37	chr12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccccccaggtgctgcGgctgctcatcacggcctggg	13	17	2	0	rs370481380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	549					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R549Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGGTGCTGCGGCTGCTCATC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0					ENST00000257600.3																			1	Substitution - Missense(1)	p.R549Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1645-1647)cGg>cAg		deltex homolog 1 (Drosophila)		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	45	30	35		1646	4	0.4	12		35	0,8598		0,0,4299	no	missense	DTX1	NM_004416.2	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	549/621	113534527	2,13002	2203	4299	6502	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534527G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1646G>A	12.37:g.113534527G>A	ENSP00000257600:p.Arg549Gln					DTX1_ENST00000547974.1_3'UTR	p.R549Q	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2149	+			549					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1646G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700355	0.48307	4.54E-4	0.0	ENSG00000135144	ENST00000257600	T	0.23754	1.89	4.86	3.97	0.46021	.	0.066614	0.64402	D	0.000018	T	0.21631	0.0521	L	0.43923	1.385	0.38129	D	0.938091	B	0.22480	0.07	B	0.23716	0.048	T	0.07462	-1.0771	10	0.45353	T	0.12	1.3252	9.057	0.36412	0.1793:0.0:0.8207:0.0	.	549	Q86Y01	DTX1_HUMAN	Q	549	ENSP00000257600:R549Q	ENSP00000257600:R549Q	R	+	2	0	DTX1	112018910	1.000000	0.71417	0.448000	0.26945	0.967000	0.64934	4.614000	0.61183	1.036000	0.39998	0.462000	0.41574	CGG		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			6	114	0	0	0	1	0	6	114					A	113534527	G	A	113534527	3	1	79	1	0	0	0	0	1	0	0	0	4809	1116	39	1	1680	1	DTX1	12	113534527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38307	113534527	20317368	13793	24110											
RASAL1	8437	broad.mit.edu	37	chr12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttccctcgctcctgctgCtggaactcctcgtgggcacg	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000261729.5	-	22	2685	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	RASAL1_ENST00000546530.1_Missense_Mutation_p.Q792H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	790					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCCTGCTGCTGGAACTCCT	0.672																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(2374-2376)caG>caT		RAS protein activator like 1 (GAP1 like)							39	46	43					12																	113537779		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113537779C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2370G>T	12.37:g.113537779C>A	ENSP00000261729:p.Gln790His					RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q790H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H	p.Q792H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			22	2661	-			790					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2376G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873304	0.51695	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69685	-0.42;-0.34;-0.4;-0.42	5.4	5.4	0.78164	.	0.351753	0.29486	N	0.012005	T	0.75568	0.3867	L	0.54323	1.7	0.34609	D	0.717338	D;D;D;D	0.58970	0.984;0.984;0.973;0.98	P;P;P;P	0.59056	0.851;0.851;0.713;0.804	T	0.82255	-0.0548	10	0.54805	T	0.06	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	791;792;790;762	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	H	792;790;762;791	ENSP00000450244:Q792H;ENSP00000261729:Q790H;ENSP00000395920:Q762H;ENSP00000448510:Q791H	ENSP00000261729:Q790H	Q	-	3	2	RASAL1	112022162	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	3.118000	0.50414	2.543000	0.85770	0.450000	0.29827	CAG		0.672	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		14	379	1	0	0.000219431	1	0.000222766	14	379					A	113537779	C	A	113537779	3	1	79	1	0	0	0	0	1	0	0	0	13113	796	28	3	48	3	RASAL1	12	113537779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3252	113537779	20314116	13794	24111											
RASAL1	8437	broad.mit.edu	37	chr12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtccgcgtgttggtccCgaaggtcaaacagctttggg	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000261729.5	-	15	1775	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	RASAL1_ENST00000546530.1_Missense_Mutation_p.R488Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTTGGTCCCGAAGGTCAAA	0.557																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1462-1464)cGg>cAg		RAS protein activator like 1 (GAP1 like)							68	59	62					12																	113545942		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113545942C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1460G>A	12.37:g.113545942C>T	ENSP00000261729:p.Arg487Gln					RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.R487Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR	p.R488Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			15	1748	-			487			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1463G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096439	0.76870	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	D	0.000017	T	0.78868	0.4351	L	0.56396	1.775	0.54753	D	0.999981	P;P;P;P;P;P;P	0.52316	0.743;0.532;0.698;0.902;0.852;0.952;0.88	B;B;B;B;B;P;B	0.45971	0.2;0.221;0.126;0.319;0.263;0.499;0.213	T	0.82514	-0.0419	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	488;487;487;487	ENSP00000450244:R488Q;ENSP00000261729:R487Q;ENSP00000395920:R487Q;ENSP00000448510:R487Q	ENSP00000261729:R487Q	R	-	2	0	RASAL1	112030325	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.280000	0.78610	2.323000	0.78572	0.555000	0.69702	CGG		0.557	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		49	147	0	0	0	1	0	49	147					T	113545942	C	T	113545942	3	4	79	1	0	0	0	0	1	0	0	0	13113	652	23	1	986	1	RASAL1	12	113545942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8163	113545942	20305953	13795	24112											
RASAL1	8437	broad.mit.edu	37	chr12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcataaactgttccatcGacttggatgccagggagtta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000261729.5	-	12	1364	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000546530.1_Missense_Mutation_p.S350L|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	350	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGTTCCATCGACTTGGATGC	0.572																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1048-1050)tCg>tTg		RAS protein activator like 1 (GAP1 like)							200	199	200					12																	113553024		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553024G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1049C>T	12.37:g.113553024G>A	ENSP00000261729:p.Ser350Leu					RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000261729.5_Missense_Mutation_p.S350L|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR	p.S350L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			12	1334	-			350			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1049C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029248	0.93518	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.192965	0.46442	D	0.000297	T	0.79975	0.4539	L	0.37750	1.13	0.44745	D	0.997741	P;P;P;P;P;D;P	0.60160	0.953;0.889;0.942;0.953;0.873;0.987;0.942	P;P;B;P;B;P;B	0.56700	0.557;0.653;0.422;0.557;0.404;0.804;0.422	T	0.81673	-0.0826	10	0.52906	T	0.07	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	350;350;350;362;350;350;350	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	L	350	ENSP00000450244:S350L;ENSP00000261729:S350L;ENSP00000395920:S350L;ENSP00000448510:S350L	ENSP00000261729:S350L	S	-	2	0	RASAL1	112037407	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.312000	0.78968	2.205000	0.71048	0.491000	0.48974	TCG		0.572	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		148	786	0	0	0	1	0	148	786					A	113553024	G	A	113553024	3	1	79	1	0	0	0	0	1	0	0	0	13113	1059	37	1	1409	1	RASAL1	12	113553024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7082	113553024	20298871	13796	24113											
RASAL1	8437	broad.mit.edu	37	chr12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaatgaggctcaccatgCccaagaagtcattcttgccc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000261729.5	-	8	953	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000546530.1_Missense_Mutation_p.G213D|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	213	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCACCATGCCCAAGAAGTC	0.612																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(637-639)gGc>gAc		RAS protein activator like 1 (GAP1 like)							146	129	135					12																	113556937		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113556937C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.638G>A	12.37:g.113556937C>T	ENSP00000261729:p.Gly213Asp					RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000261729.5_Missense_Mutation_p.G213D|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR	p.G213D	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			8	923	-			213			C2 2.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.638G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069803	0.93950	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057398	0.64402	D	0.000001	D	0.98795	0.9594	H	0.98446	4.235	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	213;213;213;225;213;213;213	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	213	ENSP00000450244:G213D;ENSP00000261729:G213D;ENSP00000395920:G213D;ENSP00000448510:G213D	ENSP00000261729:G213D	G	-	2	0	RASAL1	112041320	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.389000	0.79806	2.592000	0.87571	0.511000	0.50034	GGC		0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		20	978	0	0	0	1	0	20	978					T	113556937	C	T	113556937	3	4	79	1	0	0	0	0	1	0	0	0	13113	739	26	2	1836	2	RASAL1	12	113556937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3913	113556937	20294958	13797	24114											
DDX54	79039	broad.mit.edu	37	chr12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttggccacggtctcGcttcccacctcttcgctctg	7	19	4	0	rs200245814		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000306014.5	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000314045.7_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	800					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2398-2400)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							194	140	158					12																	113599090		2203	4300	6503	SO:0001587	stop_gained	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599090G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2398C>T	12.37:g.113599090G>A	ENSP00000304072:p.Arg800*					DDX54_ENST00000306014.5_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	p.R800*	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			19	2425	-			800					Q86YT8|Q9BRZ1	Nonsense_Mutation	SNP	ENST00000306014.5	37	c.2398C>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.605751	0.97701	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	4.79	-0.117	0.13551	.	0.233607	0.35291	N	0.003304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7572	0.08589	0.0886:0.1214:0.4372:0.3529	.	.	.	.	X	800	.	ENSP00000304072:R800X	R	-	1	2	DDX54	112083473	0.000000	0.05858	0.990000	0.47175	0.597000	0.36814	0.426000	0.21363	0.395000	0.25257	0.491000	0.48974	CGA		0.572	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		66	296	0	0	0	1	0	66	296					A	113599090	G	A	113599090	4	1	79	1	0	0	0	0	0	1	0	0	4383	1095	38	1	258	1	DDX54	12	113599090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42153	113599090	20252805	13798	24115											
DDX54	79039	broad.mit.edu	37	chr12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggcgttatcagcaaCgcgggccaggccccgtagct	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000306014.5	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000314045.7_Missense_Mutation_p.V511I	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	511					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1531-1533)Gtt>Att		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							60	58	59					12																	113603721		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113603721C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1531G>A	12.37:g.113603721C>T	ENSP00000304072:p.Val511Ile					DDX54_ENST00000306014.5_Missense_Mutation_p.V511I	p.V511I	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			13	1558	-			511					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.1531G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895350	0.33442	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.14144	2.53;2.53	4.69	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.80028	2.48	0.53005	D	0.999967	P;P	0.45283	0.855;0.773	B;B	0.38020	0.263;0.135	T	0.08166	-1.0735	10	0.54805	T	0.06	.	12.58	0.56386	0.0:0.9185:0.0:0.0815	.	511;511	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	I	511	ENSP00000323858:V511I;ENSP00000304072:V511I	ENSP00000304072:V511I	V	-	1	0	DDX54	112088104	0.990000	0.36364	0.246000	0.24233	0.002000	0.02628	2.884000	0.48562	1.188000	0.43014	0.655000	0.94253	GTT		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		101	300	0	0	0	1	0	101	300					T	113603721	C	T	113603721	3	4	79	1	0	0	0	0	1	0	0	0	4383	536	19	1	1149	1	DDX54	12	113603721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4631	113603721	20248174	13799	24116											
C12orf52	84934	broad.mit.edu	37	chr12	113629192	113629192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccagcttcggggcccCgcggatggcgaagggggatg	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113629192C>T	ENST00000548278.1	+	4	1072	c.380C>T	c.(379-381)cCg>cTg	p.P127L	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		127					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCGGGGCCCCGCGGATGGCG	0.647																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(379-381)cCg>cTg		chromosome 12 open reading frame 52							29	31	30					12																	113629192		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629192C>T																												ENST00000548278.1:c.380C>T	12.37:g.113629192C>T	ENSP00000449841:p.Pro127Leu					RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	p.P127L	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1072	+			127					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.380C>T	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725635	0.15439	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.49720	0.82;0.82;0.77	4.39	3.48	0.39840	.	0.651748	0.13491	N	0.383941	T	0.50582	0.1624	M	0.66939	2.045	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.48030	0.564;0.564;0.564	T	0.39313	-0.9620	10	0.42905	T	0.14	-0.7116	9.4921	0.38967	0.2107:0.7893:0.0:0.0	.	127;151;127	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	L	127;127;151;127;127;124	ENSP00000448289:P127L;ENSP00000449841:P127L;ENSP00000448680:P151L	ENSP00000266813:P124L	P	+	2	0	C12orf52	112113575	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	1.496000	0.35638	1.032000	0.39892	0.655000	0.94253	CCG		0.647	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			7	287	0	0	0	1	0	7	287					T	113629192	C	T	113629192	3	4	79	1	0	0	0	0	1	0	0	0	1702	652	23	1	386	1	C12orf52	12	113629192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25471	113629192	20222703	13800	24117											
TPCN1	53373	broad.mit.edu	37	chr12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccaatgcagatggcGgcagctatgccatccacgac	9	15	1	1	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000335509.6	+	3	432	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	40					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGATGGCGGCAGCTATGC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18863	0.0		0.0	False		,,,				2504	0.0					ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(334-336)Ggc>Agc		two pore segment channel 1		G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	56	53	54		118,334	3.5	1	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense	TPCN1	NM_017901.4,NM_001143819.1	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	40/817,112/889	113698178	6,13000	2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113698178G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.118G>A	12.37:g.113698178G>A	ENSP00000335300:p.Gly40Ser					TPCN1_ENST00000335509.6_Missense_Mutation_p.G40S|TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S	p.G112S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			4	503	+			40					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.334G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086673	0.55861	0.001362	0.0	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.38	3.49	0.39957	.	0.294004	0.32608	N	0.005863	T	0.38081	0.1027	M	0.62723	1.935	0.46149	D	0.998893	B;B	0.26081	0.141;0.026	B;B	0.28784	0.094;0.015	T	0.13926	-1.0491	10	0.19590	T	0.45	-17.5962	10.5864	0.45286	0.0896:0.0:0.9104:0.0	.	112;40	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	16;95;126;40;112;40;112;112	ENSP00000447806:G16S;ENSP00000449560:G95S;ENSP00000447569:G126S;ENSP00000447073:G40S;ENSP00000447263:G112S;ENSP00000335300:G40S;ENSP00000448083:G112S;ENSP00000438125:G112S	ENSP00000335300:G40S	G	+	1	0	TPCN1	112182561	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.386000	0.52492	1.074000	0.40909	0.591000	0.81541	GGC		0.552	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		38	237	0	0	0	1	0	38	237					A	113698178	G	A	113698178	3	1	79	1	0	0	0	0	1	0	0	0	16448	1116	39	1	344	1	TPCN1	12	113698178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68986	113698178	20153717	13801	24118											
TPCN1	53373	broad.mit.edu	37	chr12	113729700	113729700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgacgatcattgtcGcctttatcctcgaggccttc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	ENST00000335509.6	+	25	2364	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000550785.1_Missense_Mutation_p.A756T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	684					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GATCATTGTCGCCTTTATCCT	0.597																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2266-2268)Gcc>Acc		two pore segment channel 1							134	110	118					12																	113729700		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113729700G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2050G>A	12.37:g.113729700G>A	ENSP00000335300:p.Ala684Thr					TPCN1_ENST00000335509.6_Missense_Mutation_p.A684T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T	p.A756T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			26	2435	+			684					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.2266G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599683	0.96614	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	D	0.98389	1.0562	10	0.87932	D	0	-36.4881	19.0502	0.93039	0.0:0.0:1.0:0.0	.	756;684	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	684;756;756;616	ENSP00000335300:A684T;ENSP00000448083:A756T;ENSP00000438125:A756T;ENSP00000376350:A616T	ENSP00000335300:A684T	A	+	1	0	TPCN1	112214083	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	9.199000	0.95003	2.560000	0.86352	0.561000	0.74099	GCC		0.597	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		9	475	0	0	0	1	0	9	475					A	113729700	G	A	113729700	3	1	79	1	0	0	0	0	1	0	0	0	16448	1087	38	1	2364	1	TPCN1	12	113729700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31522	113729700	20122195	13802	24119											
PLBD2	196463	broad.mit.edu	37	chr12	113810480	113810480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgcactggatgaacacGgtggtgaattactgcggccc	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000280800.3	+	3	442	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000545182.2_Silent_p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	137					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(409-411)acG>acA		phospholipase B domain containing 2							110	109	110					12																	113810480		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810480G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.411G>A	12.37:g.113810480G>A						PLBD2_ENST00000545182.2_Silent_p.T137T	p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			3	442	+			137					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.411G>A	CCDS9168.1																																																																																				0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		140	796	0	0	0	1	0	140	796					A	113810480	G	A	113810480	2	1	79	1	0	0	0	0	0	0	0	1	12068	1103	39	1		1	PLBD2	12	113810480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80780	113810480	20041415	13803	24120											
PLBD2	196463	broad.mit.edu	37	chr12	113822071	113822071	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggttcaacagcggcacGtgagtgggcttctggccctg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113822071G>A	ENST00000280800.3	+	7	1149		c.e7+1		PLBD2_ENST00000545182.2_Splice_Site	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2						lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACAGCGGCACGTGAGTGGGCT	0.622																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.e7+1		phospholipase B domain containing 2							53	48	50					12																	113822071		2203	4300	6503	SO:0001630	splice_region_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113822071G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1118+1G>A	12.37:g.113822071G>A						PLBD2_ENST00000545182.2_Splice_Site		NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			7	1149	+								F5H5E2	Splice_Site	SNP	ENST00000280800.3	37		CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529805	0.64860	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2668	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLBD2	112306454	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.747000	0.85070	2.306000	0.77630	0.305000	0.20034	.		0.622	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	Intron	8	333	0	0	0	1	0	8	333					A	113822071	G	A	113822071	5	1	79	1	0	0	0	0	0	0	1	0	12068	1159	40	1	1145	1	PLBD2	12	113822071	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11591	113822071	20029824	13804	24121											
PLBD2	196463	broad.mit.edu	37	chr12	113824778	113824778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatgccagtgggctgcaGgccctagtggcccagtatgg	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000280800.3	+	10	1354	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_ENST00000545182.2_Silent_p.Q409Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	441					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1321-1323)caG>caA		phospholipase B domain containing 2							68	63	64					12																	113824778		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824778G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1323G>A	12.37:g.113824778G>A						PLBD2_ENST00000545182.2_Silent_p.Q409Q	p.Q441Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1354	+			441					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1323G>A	CCDS9168.1																																																																																				0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		21	450	0	0	0	1	0	21	450					A	113824778	G	A	113824778	2	1	79	1	0	0	0	0	0	0	0	1	12068	991	35	2		2	PLBD2	12	113824778	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2707	113824778	20027117	13805	24122											
PLBD2	196463	broad.mit.edu	37	chr12	113825591	113825591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtcactgtgcaaagcCtgcaacccccagcccaatgg	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000280800.3	+	11	1513	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_ENST00000545182.2_Silent_p.A462A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	494					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1480-1482)gcC>gcA		phospholipase B domain containing 2							292	282	286					12																	113825591		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825591C>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1482C>A	12.37:g.113825591C>A						PLBD2_ENST00000545182.2_Silent_p.A462A	p.A494A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			11	1513	+			494					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1482C>A	CCDS9168.1																																																																																				0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		102	2362	1	0	3.11337e-16	1	3.41587e-16	102	2362					A	113825591	C	A	113825591	2	1	79	1	0	0	0	0	0	0	0	1	12068	668	24	3		3	PLBD2	12	113825591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	813	113825591	20026304	13806	24123											
RBM19	9904	broad.mit.edu	37	chr12	114282486	114282486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaccgtgaaagtgagcGgccgtcttccgccgcagggc	13	15	1	2	rs368224110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	924					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2770-2772)gcC>gcT		RNA binding motif protein 19		A	,,	0,4406		0,0,2203	35	32	33		2772,2772,2772	-10.2	0	12		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	924/961,924/961,924/961	114282486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282486G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2772C>T	12.37:g.114282486G>A						RBM19_ENST00000392561.3_Silent_p.A924A|RBM19_ENST00000261741.5_Silent_p.A924A	p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			23	2850	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		924					A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2772C>T	CCDS9172.1																																																																																				0.652	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		44	109	0	0	0	1	0	44	109					A	114282486	G	A	114282486	2	1	79	1	0	0	0	0	0	0	0	1	13171	1103	39	1		1	RBM19	12	114282486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456895	114282486	19569409	13807	24124											
RBM19	9904	broad.mit.edu	37	chr12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttgaccagaatcacaGtcttgcttcgctctgctgca	9	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	587	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1759-1761)aCt>aTt		RNA binding motif protein 19							75	78	77					12																	114377943		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377943G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1760C>T	12.37:g.114377943G>A	ENSP00000442053:p.Thr587Ile					RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1838	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		587			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1760C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647010	0.67358	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.254274	0.37761	N	0.001945	T	0.29652	0.0740	M	0.93328	3.405	0.49915	D	0.999838	P	0.51240	0.943	P	0.55999	0.789	T	0.48007	-0.9072	10	0.62326	D	0.03	-12.7428	16.7648	0.85521	0.0:0.0:1.0:0.0	.	587	Q9Y4C8	RBM19_HUMAN	I	587	ENSP00000442053:T587I;ENSP00000376344:T587I;ENSP00000261741:T587I	ENSP00000261741:T587I	T	-	2	0	RBM19	112862326	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	4.823000	0.62694	1.964000	0.57103	0.561000	0.74099	ACT		0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		67	637	0	0	0	1	0	67	637					A	114377943	G	A	114377943	3	1	79	1	0	0	0	0	1	0	0	0	13171	1029	36	2	1162	2	RBM19	12	114377943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95457	114377943	19473952	13808	24125											
RBM19	9904	broad.mit.edu	37	chr12	114385222	114385222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaatgcaaaacccttggGtttcttggtcaggctgtcga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	ENST00000545145.2	-	11	1402	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAACCCTTGGGTTTCTTGGTC	0.602																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1324-1326)Ccc>Acc		RNA binding motif protein 19							133	114	121					12																	114385222		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114385222G>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1324C>A	12.37:g.114385222G>T	ENSP00000442053:p.Pro442Thr					RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			11	1402	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		442			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1324C>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585491	0.28268	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06371	3.31;3.31;3.31	5.15	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116307	0.64402	D	0.000014	T	0.08088	0.0202	L	0.33245	0.995	0.52099	D	0.999942	B	0.24186	0.099	B	0.36378	0.223	T	0.29458	-1.0011	10	0.19147	T	0.46	-24.7373	14.8359	0.70183	0.0:0.0:0.8547:0.1453	.	442	Q9Y4C8	RBM19_HUMAN	T	442	ENSP00000442053:P442T;ENSP00000376344:P442T;ENSP00000261741:P442T	ENSP00000261741:P442T	P	-	1	0	RBM19	112869605	1.000000	0.71417	0.926000	0.36857	0.982000	0.71751	6.171000	0.71926	1.141000	0.42275	0.655000	0.94253	CCC		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		11	340	1	0	3.86212e-05	1	3.93988e-05	11	340					T	114385222	G	T	114385222	3	4	79	1	0	0	0	0	1	0	0	0	13171	1261	44	3	1614	3	RBM19	12	114385222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7279	114385222	19466673	13809	24126											
TBX5	6910	broad.mit.edu	37	chr12	114823291	114823291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcctacctttgcattcTtgacattctgtgcagctcca	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114823291T>C	ENST00000310346.4	-	7	1411	c.745A>G	c.(745-747)Aga>Gga	p.R249G	TBX5_ENST00000349716.5_Missense_Mutation_p.R199G|TBX5_ENST00000526441.1_Missense_Mutation_p.R249G|TBX5_ENST00000405440.2_Missense_Mutation_p.R249G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	249					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)			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)		CTTTGCATTCTTGACATTCTG	0.483																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				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						c.(745-747)Aga>Gga		T-box 5							168	138	148					12																	114823291		2203	4300	6503	SO:0001583	missense	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.chr12:114823291T>C	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.745A>G	12.37:g.114823291T>C	ENSP00000309913:p.Arg249Gly					TBX5_ENST00000405440.2_Missense_Mutation_p.R249G|TBX5_ENST00000349716.5_Missense_Mutation_p.R199G|TBX5_ENST00000526441.1_Missense_Mutation_p.R249G	p.R249G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1411	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		249					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.745A>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636878	0.67130	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	1.4	0.22301	.	0.108119	0.64402	D	0.000002	D	0.88566	0.6471	M	0.77103	2.36	0.54753	D	0.999989	D;P	0.59767	0.986;0.919	D;B	0.63283	0.913;0.395	D	0.86522	0.1816	10	0.42905	T	0.14	.	12.8566	0.57888	0.0:0.0:0.4062:0.5938	.	249;249	Q99593-2;Q99593	.;TBX5_HUMAN	G	199;249;146;249;249	ENSP00000337723:R199G;ENSP00000309913:R249G;ENSP00000384152:R249G;ENSP00000433292:R249G	ENSP00000309913:R249G	R	-	1	2	TBX5	113307674	0.881000	0.30235	0.925000	0.36789	0.997000	0.91878	0.961000	0.29267	-0.002000	0.14469	0.460000	0.39030	AGA		0.483	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	335	0	0	0	1	0	7	335					C	114823291	T	C	114823291	3	2	79	1	0	0	0	0	1	0	0	0	15713	1617	56	4	890	4	TBX5	12	114823291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	438069	114823291	19028604	13810	24127											
TBX3	6926	broad.mit.edu	37	chr12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcagatgcgcctgggGccccagggaggagaacggga	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000257566.3	-	1	636	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000349155.2_Missense_Mutation_p.P83S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	83					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCTGGGGCCCCAGGGAG	0.657																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(247-249)Ccc>Tcc		T-box 3							25	30	28					12																	115120759		2201	4298	6499	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120759G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.247C>T	12.37:g.115120759G>A	ENSP00000257566:p.Pro83Ser					TBX3_ENST00000257566.3_Missense_Mutation_p.P83S	p.P83S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1210	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		83					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.247C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997824	0.35226	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.21	5.17	5.17	0.71159	.	0.140152	0.64402	D	0.000004	T	0.77363	0.4119	N	0.12182	0.205	0.41046	D	0.985269	B;B;B	0.25719	0.003;0.132;0.018	B;B;B	0.35278	0.002;0.199;0.014	T	0.71461	-0.4586	10	0.07482	T	0.82	.	14.416	0.67151	0.0:0.0:0.8519:0.1481	.	83;83;83	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	83	ENSP00000257567:P83S;ENSP00000257566:P83S	ENSP00000257566:P83S	P	-	1	0	TBX3	113605142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.419000	0.82065	0.655000	0.94253	CCC		0.657	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		67	222	0	0	0	1	0	67	222					A	115120759	G	A	115120759	3	1	79	1	0	0	0	0	1	0	0	0	15711	1203	42	2	2016	2	TBX3	12	115120759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297468	115120759	18731136	13811	24128											
MED13L	23389	broad.mit.edu	37	chr12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattctccaaggaggataCtccaatctgaaatcaaatat	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGGATACTCCAATCTGA	0.418																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5737-5739)aGt>aAt		mediator complex subunit 13-like							96	90	92					12																	116410035		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116410035C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5738G>A	12.37:g.116410035C>T	ENSP00000281928:p.Ser1913Asn						p.S1913N	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	26	5944	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1913					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5738G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879851	0.91740	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91573	0.5273	10	0.66056	D	0.02	-12.2036	18.3134	0.90208	0.0:1.0:0.0:0.0	.	1913	Q71F56	MD13L_HUMAN	N	1913	ENSP00000281928:S1913N	ENSP00000281928:S1913N	S	-	2	0	MED13L	114894418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.631000	0.89168	0.563000	0.77884	AGT		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			65	292	0	0	0	1	0	65	292					T	116410035	C	T	116410035	3	4	79	1	0	0	0	0	1	0	0	0	9472	565	20	2	918	2	MED13L	12	116410035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289276	116410035	17441860	13812	24129											
MED13L	23389	broad.mit.edu	37	chr12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgggcccgactgcacaacGttttaaaagcttatgcctaa	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	433						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCACAACGTTTTAAAAGC	0.383																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1297-1299)Cgt>Tgt		mediator complex subunit 13-like							82	78	79					12																	116446921		2202	4300	6502	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446921G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1297C>T	12.37:g.116446921G>A	ENSP00000281928:p.Arg433Cys						p.R433C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1503	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		433					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1297C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824145	0.50739	.	.	ENSG00000123066	ENST00000281928	T	0.74842	-0.88	5.76	5.76	0.90799	.	0.330564	0.34484	N	0.003940	D	0.83788	0.5330	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	P	0.61722	0.893	T	0.82602	-0.0376	10	0.45353	T	0.12	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	433	Q71F56	MD13L_HUMAN	C	433	ENSP00000281928:R433C	ENSP00000281928:R433C	R	-	1	0	MED13L	114931304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.732000	0.93576	0.655000	0.94253	CGT		0.383	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			68	287	0	0	0	1	0	68	287					A	116446921	G	A	116446921	3	1	79	1	0	0	0	0	1	0	0	0	9472	1145	40	1	5423	1	MED13L	12	116446921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36886	116446921	17404974	13813	24130											
MED13L	23389	broad.mit.edu	37	chr12	116714891	116714891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaggttggagtgacaatCctccaggctcgccccgttcg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116714891C>T	ENST00000281928.3	-	1	252	c.46G>A	c.(46-48)Gat>Aat	p.D16N	MED13L_ENST00000551197.1_5'Flank	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	16						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTGACAATCCTCCAGGCTC	0.716																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(46-48)Gat>Aat		mediator complex subunit 13-like							10	9	9					12																	116714891		2122	4184	6306	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116714891C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.46G>A	12.37:g.116714891C>T	ENSP00000281928:p.Asp16Asn						p.D16N	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	1	252	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		16					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.46G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506221	0.64410	.	.	ENSG00000123066	ENST00000281928	D	0.87256	-2.23	2.44	1.51	0.23008	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	1.203760	0.06820	N	0.792134	D	0.86543	0.5958	M	0.81341	2.54	0.31603	N	0.652473	B	0.16396	0.017	B	0.09377	0.004	T	0.77582	-0.2534	10	0.62326	D	0.03	.	6.5042	0.22186	0.0:0.8402:0.0:0.1598	.	16	Q71F56	MD13L_HUMAN	N	16	ENSP00000281928:D16N	ENSP00000281928:D16N	D	-	1	0	MED13L	115199274	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.716000	0.68437	0.137000	0.18759	0.385000	0.25706	GAT		0.716	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	34	0	0	0	1	0	6	34					T	116714891	C	T	116714891	3	4	79	1	0	0	0	0	1	0	0	0	9472	855	30	2	6710	2	MED13L	12	116714891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267970	116714891	17137004	13814	24131											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117013978	117013978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagctcaatgctaatcaGgccttcttcctgttggtgaa	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000556529.1	+	1	323	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	77					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(229-231)caG>caA		microtubule-associated protein 1 light chain 3 beta 2							127	124	125					12																	117013978		2203	4300	6503	SO:0001819	synonymous_variant	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117013978G>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.231G>A	12.37:g.117013978G>A						MAP1LC3B2_ENST00000556529.1_Silent_p.Q77Q	p.Q77Q	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	385	+			77						Silent	SNP	ENST00000556529.1	37	c.231G>A	CCDS41841.1																																																																																				0.448	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		115	507	0	0	0	1	0	115	507					A	117013978	G	A	117013978	2	1	79	1	0	0	0	0	0	0	0	1	9273	991	35	2		2	MAP1LC3B2	12	117013978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299087	117013978	16837917	13815	24132											
C12orf49	79794	broad.mit.edu	37	chr12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttctccatagcaatacTttgctatggggtcccggtag	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	192						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587																																						ENST00000261318.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(574-576)aAg>aCg		chromosome 12 open reading frame 49							53	44	47					12																	117155658		2203	4299	6502	SO:0001583	missense	79794					extracellular region		g.chr12:117155658T>G	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.575A>C	12.37:g.117155658T>G	ENSP00000261318:p.Lys192Thr					C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	p.K192T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	5	735	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		192					Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	c.575A>C	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.848629|4.848629	0.91277|0.91277	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000261318;ENST00000548356;ENST00000536380|ENST00000547606	T|.	0.54675|.	0.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81944|0.81944	-0.0701|-0.0701	10|5	0.72032|.	D|.	0.01|.	-40.1457|-40.1457	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	162;192|.	F5H6Y2;Q9H741|.	.;CL049_HUMAN|.	T|R	192;33;162|30	ENSP00000261318:K192T|.	ENSP00000261318:K192T|.	K|S	-|-	2|1	0|0	C12orf49|C12orf49	115640041|115640041	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.884000|7.884000	0.87274|0.87274	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.587	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		13	60	0	0	0	1	0	13	60					G	117155658	T	G	117155658	3	3	79	1	0	0	0	0	1	0	0	0	1698	1609	56	4	46	4	C12orf49	12	117155658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141680	117155658	16696237	13816	24133											
RNFT2	84900	broad.mit.edu	37	chr12	117187661	117187661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaaccgcagccaggcGctcagctccgaggcgagtgt	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	ENST00000257575.4	+	4	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A|RNFT2_ENST00000319176.7_Silent_p.A33A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCAGCCAGGCGCTCAGCTCCG	0.582																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(97-99)gcG>gcA		ring finger protein, transmembrane 2							12	17	15					12																	117187661		2059	4209	6268	SO:0001819	synonymous_variant	84900					integral to membrane	zinc ion binding	g.chr12:117187661G>A	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.99G>A	12.37:g.117187661G>A						RNFT2_ENST00000319176.7_Silent_p.A33A|RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A	p.A33A			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	4	332	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		33					E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	c.99G>A	CCDS44987.1																																																																																				0.582	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		6	26	0	0	0	1	0	6	26					A	117187661	G	A	117187661	2	1	79	1	0	0	0	0	0	0	0	1	13552	1074	38	1		1	RNFT2	12	117187661	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32003	117187661	16664234	13817	24134											
TESC	54997	broad.mit.edu	37	chr12	117484630	117484630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgctgtccgagtcgtaCatgtggaacagaactagggt	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117484630C>T	ENST00000335209.7	-	5	549	c.363G>A	c.(361-363)atG>atA	p.M121I	TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I			Q96BS2	CHP3_HUMAN	tescalcin	121	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCGAGTCGTACATGTGGAACA	0.592																																						ENST00000335209.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(361-363)atG>atA		tescalcin							44	38	40					12																	117484630		2197	4288	6485	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117484630C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.363G>A	12.37:g.117484630C>T	ENSP00000334785:p.Met121Ile					TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I	p.M121I			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	5	549	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		121			EF-hand.		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.363G>A	CCDS9183.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.492545|3.492545	0.64074|0.64074	.|.	.|.	ENSG00000088992|ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210|ENST00000549210	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	4.68|4.68	4.68|4.68	0.58851|0.58851	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.28709|.	0.093|.	T|T	0.56013|0.56013	-0.8049|-0.8049	10|5	0.45353|.	T|.	0.12|.	-25.979|-25.979	17.3511|17.3511	0.87324|0.87324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	121|.	Q96BS2|.	TESC_HUMAN|.	I|I	121;174;94|3	ENSP00000334785:M121I;ENSP00000376328:M174I;ENSP00000445689:M94I|.	ENSP00000334785:M121I|.	M|V	-|-	3|1	0|0	TESC|TESC	115969013|115969013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.485000|4.485000	0.60279|0.60279	2.434000|2.434000	0.82447|0.82447	0.555000|0.555000	0.69702|0.69702	ATG|GTA		0.592	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		7	26	0	0	0	1	0	7	26					T	117484630	C	T	117484630	3	4	79	1	0	0	0	0	1	0	0	0	15818	478	17	2	297	2	TESC	12	117484630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296969	117484630	16367265	13818	24135											
TESC	54997	broad.mit.edu	37	chr12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaacgcccacctgttgtCgaagaaggcacgaacaattt	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron			Q96BS2	CHP3_HUMAN	tescalcin	68					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517																																						ENST00000335209.7																			2	Substitution - Missense(2)	p.D121N(2)	large_intestine(1)|endometrium(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(202-204)Gac>Aac		tescalcin							150	116	127					12																	117494618		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117494618C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.202G>A	12.37:g.117494618C>T	ENSP00000334785:p.Asp68Asn					TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron	p.D68N			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	3	388	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		68					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.202G>A	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72626	-0.4236	10	0.33940	T	0.23	-48.5903	17.4632	0.87625	0.0:1.0:0.0:0.0	.	68	Q96BS2	TESC_HUMAN	N	68;121	ENSP00000334785:D68N;ENSP00000376328:D121N	ENSP00000334785:D68N	D	-	1	0	TESC	115979001	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.745000	0.68672	2.401000	0.81631	0.655000	0.94253	GAC		0.517	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		57	308	0	0	0	1	0	57	308					T	117494618	C	T	117494618	3	4	79	1	0	0	0	0	1	0	0	0	15818	884	31	1	466	1	TESC	12	117494618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9988	117494618	16357277	13819	24136											
FBXO21	23014	broad.mit.edu	37	chr12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttctcatcggagcGcagcttcacctctacgccca	8	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000330622.5	-	10	1476	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	FBXO21_ENST00000427718.2_Missense_Mutation_p.R486C			O94952	FBX21_HUMAN	F-box protein 21	493					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCATCGGAGCGCAGCTTCACC	0.587																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1456-1458)Cgc>Tgc		F-box protein 21							211	175	187					12																	117595739		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595739G>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1477C>T	12.37:g.117595739G>A	ENSP00000328187:p.Arg493Cys					FBXO21_ENST00000330622.5_Missense_Mutation_p.R493C	p.R486C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1530	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		493					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1456C>T	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977439|4.977439	0.92982|0.92982	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.58652	.|0.45;0.32	5.02|5.02	5.02|5.02	0.67125|0.67125	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|P;P;P;D	.|0.66196	.|0.908;0.886;0.719;0.942	T|T	0.69705|0.69705	-0.5073|-0.5073	5|10	.|0.87932	.|D	.|0	-13.0067|-13.0067	18.5372|18.5372	0.91014|0.91014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;236;493;486	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	V|C	369|486;402;342;493;145	.|ENSP00000414468:R486C;ENSP00000328187:R493C	.|ENSP00000257563:R402C	A|R	-|-	2|1	0|0	FBXO21|FBXO21	116080122|116080122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.406000|7.406000	0.80017|0.80017	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.587	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		248	905	0	0	0	1	0	248	905					A	117595739	G	A	117595739	3	1	79	1	0	0	0	0	1	0	0	0	5758	1087	38	1	421	1	FBXO21	12	117595739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101121	117595739	16256156	13820	24137											
NOS1	4842	broad.mit.edu	37	chr12	117703293	117703293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcggtggcggagtgatggTcaacaatggtcactttgtca	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	ENST00000338101.4	-	11	1968	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_ENST00000317775.6_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR			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)			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)		GGAGTGATGGTCAACAATGGT	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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						c.(1963-1965)gAc>gGc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						50	49	50					12																	117703293		2063	4244	6307	SO:0001583	missense	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.chr12:117703293T>C		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.1964A>G	12.37:g.117703293T>C	ENSP00000337459:p.Asp655Gly					NOS1_ENST00000338101.4_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR	p.D655G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2649	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		655						Missense_Mutation	SNP	ENST00000338101.4	37	c.1964A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834508	0.91036	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57595	0.39;0.39	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-44.1366	15.5335	0.75983	0.0:0.0:0.0:1.0	.	655	P29475	NOS1_HUMAN	G	550;655;655;655	ENSP00000320758:D655G;ENSP00000337459:D655G	ENSP00000320758:D655G	D	-	2	0	NOS1	116187676	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.778000	0.85637	2.254000	0.74563	0.533000	0.62120	GAC		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	41	0	0	0	1	0	8	41					C	117703293	T	C	117703293	3	2	79	1	0	0	0	0	1	0	0	0	10583	1667	58	4	2412	4	NOS1	12	117703293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107554	117703293	16148602	13821	24138											
NOS1	4842	broad.mit.edu	37	chr12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggggctgtgtcacccGgatggtcttgggggtcccat	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000338101.4	-	1	365	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W			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)			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)		TGTGTCACCCGGATGGTCTTG	0.647																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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						c.(361-363)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						34	38	37					12																	117768514		1903	4109	6012	SO:0001583	missense	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.chr12:117768514G>A		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.361C>T	12.37:g.117768514G>A	ENSP00000337459:p.Arg121Trp					NOS1_ENST00000338101.4_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W	p.R121W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1046	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		121			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.361C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932481	0.73442	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.07114	4.86;3.22;4.84	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.055578	0.64402	D	0.000001	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	T	0.01869	-1.1257	10	0.87932	D	0	-26.7802	18.0621	0.89380	0.0:0.0:1.0:0.0	.	121	P29475	NOS1_HUMAN	W	121	ENSP00000320758:R121W;ENSP00000339862:R121W;ENSP00000337459:R121W	ENSP00000320758:R121W	R	-	1	2	NOS1	116252897	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.255000	0.43222	2.492000	0.84095	0.555000	0.69702	CGG		0.647	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			60	279	0	0	0	1	0	60	279					A	117768514	G	A	117768514	3	1	79	1	0	0	0	0	1	0	0	0	10583	1115	39	1	4055	1	NOS1	12	117768514	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65221	117768514	16083381	13822	24139											
KSR2	283455	broad.mit.edu	37	chr12	117914325	117914325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttatcctcctctgtgtcGggggacagctggcggatgat	14	10	1	1	rs202148025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117914325G>A	ENST00000339824.5	-	17	3253	c.2526C>T	c.(2524-2526)ccC>ccT	p.P842P	KSR2_ENST00000425217.1_Silent_p.P813P|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTGTGTCGGGGGACAGCT	0.602																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2437-2439)ccC>ccT		kinase suppressor of ras 2		G		0,4106		0,0,2053	62	74	70		2439	-11.6	0.2	12		70	2,8406		0,2,4202	no	coding-synonymous	KSR2	NM_173598.4		0,2,6255	AA,AG,GG		0.0238,0.0,0.016		813/922	117914325	2,12512	2053	4204	6257	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914325G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2526C>T	12.37:g.117914325G>A						KSR2_ENST00000339824.5_Silent_p.P842P|KSR2_ENST00000302438.5_3'UTR	p.P813P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			17	2493	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		842			Protein kinase.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.2439C>T																																																																																					0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	39	0	0	0	1	0	14	39					A	117914325	G	A	117914325	2	1	79	1	0	0	0	0	0	0	0	1	8613	1103	39	1		1	KSR2	12	117914325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145811	117914325	15937570	13823	24140											
WSB2	55884	broad.mit.edu	37	chr12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcacaagagacaacactGctttgatggccctctagctt	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000315436.3	-	6	861	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	240					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(718-720)agC>agA		WD repeat and SOCS box containing 2							179	158	165					12																	118474256		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118474256G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.720C>A	12.37:g.118474256G>T	ENSP00000319474:p.Ser240Arg					WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R	p.S240R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			6	861	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		240					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.720C>A	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467308	0.63625	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;4.9	5.66	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085373	0.85682	D	0.000000	T	0.47728	0.1461	N	0.21240	0.645	0.48696	D	0.99969	B	0.30211	0.273	B	0.28709	0.093	T	0.41734	-0.9492	10	0.31617	T	0.26	-20.5	14.048	0.64716	0.0728:0.0:0.9272:0.0	.	240	Q9NYS7	WSB2_HUMAN	R	240;15;257;30;242;242	ENSP00000319474:S240R;ENSP00000445941:S15R;ENSP00000409131:S257R;ENSP00000444431:S30R;ENSP00000439450:S242R;ENSP00000440386:S242R	ENSP00000319474:S240R	S	-	3	2	WSB2	116958639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.032000	0.57274	1.395000	0.46643	0.655000	0.94253	AGC		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		116	473	1	0	4.16533e-50	1	5.15817e-50	116	473					T	118474256	G	T	118474256	3	4	79	1	0	0	0	0	1	0	0	0	17459	1310	46	3	510	3	WSB2	12	118474256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559931	118474256	15377639	13824	24141											
WSB2	55884	broad.mit.edu	37	chr12	118480730	118480730	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccactgggtgtgaagctcaGatctctcacgacatcttggt	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000315436.3	-	4	616	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	159					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557																																						ENST00000542304.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17								WD repeat and SOCS box containing 2							112	110	110					12																	118480730		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480730G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.475C>A	12.37:g.118480730G>T	ENSP00000319474:p.Leu159Met					WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000315436.3_Missense_Mutation_p.L159M|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M				Q9NYS7	WSB2_HUMAN			0	395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							B4DIE6|B4DPV6|Q9NRX9	Translation_Start_Site	SNP	ENST00000315436.3	37		CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190714	0.78789	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.75	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144057	0.48286	D	0.000191	T	0.62841	0.2461	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.59289	-0.7482	10	0.49607	T	0.09	-8.686	5.8458	0.18665	0.2445:0.137:0.6186:0.0	.	159	Q9NYS7	WSB2_HUMAN	M	159;176;161;161	ENSP00000319474:L159M;ENSP00000409131:L176M;ENSP00000439450:L161M;ENSP00000440386:L161M	ENSP00000319474:L159M	L	-	1	2	WSB2	116965113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.339000	0.43965	0.283000	0.22279	0.644000	0.83932	CTG		0.557	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		98	442	1	0	3.61922e-38	1	4.35844e-38	98	442					T	118480730	G	T	118480730	3	4	79	1	0	0	0	0	1	0	0	0	17459	933	33	3	763	3	WSB2	12	118480730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6474	118480730	15371165	13825	24142											
SUDS3	64426	broad.mit.edu	37	chr12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaggttgagctgaaagaGaacctgattgctgagctaga	13	5	0	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	148	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(442-444)gaG>gaT		suppressor of defective silencing 3 homolog (S. cerevisiae)							95	96	95					12																	118829014		1837	4083	5920	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118829014G>T	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.444G>T	12.37:g.118829014G>T	ENSP00000443988:p.Glu148Asp					SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	p.E148D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN			6	756	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		148					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.444G>T	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490703	0.12702	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.28608	0.87	0.58432	D	0.999995	D	0.57257	0.979	D	0.74023	0.982	T	0.48570	-0.9024	9	0.11794	T	0.64	-18.0549	6.5366	0.22357	0.2101:0.0:0.7899:0.0	.	148	Q9H7L9	SDS3_HUMAN	D	148;149	.	ENSP00000380695:E149D	E	+	3	2	SUDS3	117313397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.830000	0.48136	2.677000	0.91161	0.655000	0.94253	GAG		0.398	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		86	400	1	0	2.02726e-29	1	2.36871e-29	86	400					T	118829014	G	T	118829014	3	4	79	1	0	0	0	0	1	0	0	0	15419	933	33	3	466	3	SUDS3	12	118829014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348284	118829014	15022881	13826	24143											
SRRM4	84530	broad.mit.edu	37	chr12	119559878	119559878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatttcttgtttagctcCtctagcccaaaaagcaaaag	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(466-468)tcC>tcT		serine/arginine repetitive matrix 4							117	109	112					12																	119559878		1854	4095	5949	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119559878C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.468C>T	12.37:g.119559878C>T							p.S156S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			6	856	+			156			Lys-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.468C>T	CCDS44994.1																																																																																				0.373	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		36	206	0	0	0	1	0	36	206					T	119559878	C	T	119559878	2	4	79	1	0	0	0	0	0	0	0	1	15223	668	24	2		2	SRRM4	12	119559878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730864	119559878	14292017	13827	24144											
SRRM4	84530	broad.mit.edu	37	chr12	119568492	119568492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatccccaggcaccgcggCcggtcccctgaggaagggca	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	208	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(622-624)ggC>ggT		serine/arginine repetitive matrix 4							16	20	18					12																	119568492		1888	4099	5987	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568492C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.624C>T	12.37:g.119568492C>T						SRRM4_ENST00000537597.1_3'UTR	p.G208G	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1012	+			208			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.624C>T	CCDS44994.1																																																																																				0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		26	100	0	0	0	1	0	26	100					T	119568492	C	T	119568492	2	4	79	1	0	0	0	0	0	0	0	1	15223	726	26	2		2	SRRM4	12	119568492	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8614	119568492	14283403	13828	24145											
SRRM4	84530	broad.mit.edu	37	chr12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcccagtccagtcgccCgcccagtcaacccctccaga	9	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	241	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(721-723)cCg>cTg		serine/arginine repetitive matrix 4							24	30	28					12																	119568590		1940	4136	6076	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568590C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.722C>T	12.37:g.119568590C>T	ENSP00000267260:p.Pro241Leu					SRRM4_ENST00000537597.1_3'UTR	p.P241L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1110	+			241			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.722C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130604	0.08981	.	.	ENSG00000139767	ENST00000267260	T	0.21191	2.02	4.68	-1.97	0.07503	.	0.607362	0.17342	N	0.177731	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.11182	T	0.66	-0.0964	0.4273	0.00465	0.2622:0.2692:0.1288:0.3398	.	241	A7MD48	SRRM4_HUMAN	L	241	ENSP00000267260:P241L	ENSP00000267260:P241L	P	+	2	0	SRRM4	118052973	0.000000	0.05858	0.053000	0.19242	0.065000	0.16274	0.005000	0.13129	-0.299000	0.08909	-0.480000	0.04831	CCG		0.647	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		29	97	0	0	0	1	0	29	97					T	119568590	C	T	119568590	3	4	79	1	0	0	0	0	1	0	0	0	15223	652	23	1	752	1	SRRM4	12	119568590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	119568590	14283305	13829	24146											
SRRM4	84530	broad.mit.edu	37	chr12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcaacccctccagatgCttggctacctgtcagccagg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	249	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(745-747)Ctt>Att		serine/arginine repetitive matrix 4							26	31	29					12																	119568613		1957	4144	6101	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568613C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.745C>A	12.37:g.119568613C>A	ENSP00000267260:p.Leu249Ile					SRRM4_ENST00000537597.1_3'UTR	p.L249I	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1133	+			249			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.745C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748443	0.49257	.	.	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.21	4.2	0.49525	.	0.579646	0.17230	N	0.181976	T	0.18299	0.0439	L	0.44542	1.39	0.24740	N	0.993043	B	0.29085	0.232	B	0.25759	0.063	T	0.09773	-1.0659	10	0.19590	T	0.45	-10.4697	7.4408	0.27181	0.0:0.7997:0.0:0.2003	.	249	A7MD48	SRRM4_HUMAN	I	249	ENSP00000267260:L249I	ENSP00000267260:L249I	L	+	1	0	SRRM4	118052996	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	2.194000	0.42668	2.445000	0.82738	0.448000	0.29417	CTT		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		26	92	1	0	4.26978e-12	1	4.57227e-12	26	92					A	119568613	C	A	119568613	3	1	79	1	0	0	0	0	1	0	0	0	15223	797	28	3	775	3	SRRM4	12	119568613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	119568613	14283282	13830	24147											
SRRM4	84530	broad.mit.edu	37	chr12	119592113	119592113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgcgagcgagcgcgtcggaGacgtcggtcctactcgccta	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592113G>T	ENST00000267260.4	+	12	1845	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	486	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCGCGTCGGAGACGTCGGTCC	0.682																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1456-1458)aGa>aTa		serine/arginine repetitive matrix 4							16	21	19					12																	119592113		1855	4092	5947	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592113G>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1457G>T	12.37:g.119592113G>T	ENSP00000267260:p.Arg486Ile						p.R486I	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1845	+			486			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1457G>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986015	0.97173	.	.	ENSG00000139767	ENST00000267260	T	0.66995	-0.24	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78163	-0.2311	9	.	.	.	-21.8605	19.2685	0.93998	0.0:0.0:1.0:0.0	.	486	A7MD48	SRRM4_HUMAN	I	486	ENSP00000267260:R486I	.	R	+	2	0	SRRM4	118076496	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	7.268000	0.78473	2.562000	0.86427	0.655000	0.94253	AGA		0.682	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	117	1	0	0.00198382	1	0.00200138	6	117					T	119592113	G	T	119592113	3	4	79	1	0	0	0	0	1	0	0	0	15223	942	33	3	1503	3	SRRM4	12	119592113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23500	119592113	14259782	13831	24148											
SRRM4	84530	broad.mit.edu	37	chr12	119592129	119592129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagacgtcggtcctactcGcctatgagaaagcgccggag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	491	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1471-1473)tcG>tcA		serine/arginine repetitive matrix 4							17	21	20					12																	119592129		1856	4093	5949	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592129G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1473G>A	12.37:g.119592129G>A							p.S491S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1861	+			491			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.1473G>A	CCDS44994.1																																																																																				0.667	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		22	100	0	0	0	1	0	22	100					A	119592129	G	A	119592129	2	1	79	1	0	0	0	0	0	0	0	1	15223	1074	38	1		1	SRRM4	12	119592129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	119592129	14259766	13832	24149											
HSPB8	26353	broad.mit.edu	37	chr12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacagccaggaagtcaCctgtacctgagatgccagta	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(580-582)aCc>aTc		heat shock 22kDa protein 8							90	84	86					12																	119631653		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119631653C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.581C>T	12.37:g.119631653C>T	ENSP00000281938:p.Thr194Ile						p.T194I	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			3	1252	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		194					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.581C>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000152137	ENST00000281938	D	0.87571	-2.27	4.29	4.29	0.51040	.	0.430101	0.24933	N	0.034450	T	0.80929	0.4718	N	0.24115	0.695	0.35132	D	0.768082	D	0.60160	0.987	P	0.47118	0.538	D	0.83617	0.0137	9	.	.	.	.	11.9741	0.53081	0.0:0.8241:0.1759:0.0	.	194	Q9UJY1	HSPB8_HUMAN	I	194	ENSP00000281938:T194I	.	T	+	2	0	HSPB8	118116036	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.887000	0.48586	2.396000	0.81511	0.561000	0.74099	ACC		0.507	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		67	278	0	0	0	1	0	67	278					T	119631653	C	T	119631653	3	4	79	1	0	0	0	0	1	0	0	0	7453	507	18	2	591	2	HSPB8	12	119631653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39524	119631653	14220242	13833	24150											
CCDC60	160777	broad.mit.edu	37	chr12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccgaaaagatctcagaaaTccactatggggacaccttat	8	10	1	2	rs202167769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	106										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATCTCAGAAATCCACTATGGG	0.448																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(316-318)aTc>aAc		coiled-coil domain containing 60							172	177	175					12																	119909945		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909945T>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.317T>A	12.37:g.119909945T>A	ENSP00000333374:p.Ile106Asn					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.I106N	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	782	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		106						Missense_Mutation	SNP	ENST00000327554.2	37	c.317T>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097657	0.56075	.	.	ENSG00000183273	ENST00000327554	T	0.26223	1.75	5.22	2.75	0.32379	.	0.606715	0.15846	N	0.241777	T	0.28863	0.0716	M	0.63428	1.95	0.09310	N	1	P	0.49559	0.925	P	0.48840	0.592	T	0.14504	-1.0470	9	.	.	.	-13.3902	3.3754	0.07235	0.2556:0.111:0.0:0.6334	.	106	Q8IWA6	CCD60_HUMAN	N	106	ENSP00000333374:I106N	.	I	+	2	0	CCDC60	118394328	0.001000	0.12720	0.063000	0.19743	0.130000	0.20726	0.454000	0.21827	0.837000	0.34925	0.334000	0.21626	ATC		0.448	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		220	931	0	0	0	1	0	220	931					A	119909945	T	A	119909945	3	1	79	1	0	0	0	0	1	0	0	0	2838	1435	50	5	327	5	CCDC60	12	119909945	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	278292	119909945	13941950	13834	24151											
CCDC60	160777	broad.mit.edu	37	chr12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctagagtcacacgtcGcccattcactcccatccaca	8	16	2	1	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000327554.2																			3	Substitution - Missense(3)	p.R131H(3)	lung(2)|ovary(1)	endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(391-393)cGc>cAc		coiled-coil domain containing 60		G	HIS/ARG	0,4406		0,0,2203	224	171	189		392	2.6	0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119916949G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.392G>A	12.37:g.119916949G>A	ENSP00000333374:p.Arg131His					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.R131H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	857	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		131						Missense_Mutation	SNP	ENST00000327554.2	37	c.392G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		53	241	0	0	0	1	0	53	241					A	119916949	G	A	119916949	3	1	79	1	0	0	0	0	1	0	0	0	2838	1087	38	1	406	1	CCDC60	12	119916949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7004	119916949	13934946	13835	24152											
CCDC60	160777	broad.mit.edu	37	chr12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacaagagtaattctgCttataaggaaatgcagacca	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	336										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTAATTCTGCTTATAAGGAA	0.473																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)gCt>gTt		coiled-coil domain containing 60							169	165	166					12																	119957964		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119957964C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1007C>T	12.37:g.119957964C>T	ENSP00000333374:p.Ala336Val					RP11-768F21.1_ENST00000509470.2_lincRNA	p.A336V	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	9	1472	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		336						Missense_Mutation	SNP	ENST00000327554.2	37	c.1007C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171345	0.06421	.	.	ENSG00000183273	ENST00000327554	T	0.22743	1.94	3.75	-0.352	0.12598	.	1.142040	0.06595	N	0.752738	T	0.15739	0.0379	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.24269	0.052	T	0.33420	-0.9869	9	.	.	.	-0.9919	3.5628	0.07889	0.0:0.4639:0.1939:0.3421	.	336	Q8IWA6	CCD60_HUMAN	V	336	ENSP00000333374:A336V	.	A	+	2	0	CCDC60	118442347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.063000	0.13065	-0.150000	0.13652	GCT		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		78	829	0	0	0	1	0	78	829					T	119957964	C	T	119957964	3	4	79	1	0	0	0	0	1	0	0	0	2838	797	28	2	1041	2	CCDC60	12	119957964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41015	119957964	13893931	13836	24153											
CCDC60	160777	broad.mit.edu	37	chr12	119961570	119961570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggccaagttttacagCgtagcccaggaggctggctt	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	392										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTTTACAGCGTAGCCCAGG	0.483																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1174-1176)agC>agT		coiled-coil domain containing 60							109	89	96					12																	119961570		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119961570C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1176C>T	12.37:g.119961570C>T						RP11-768F21.1_ENST00000509470.2_lincRNA	p.S392S	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	11	1641	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		392						Silent	SNP	ENST00000327554.2	37	c.1176C>T	CCDS9190.1																																																																																				0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		51	185	0	0	0	1	0	51	185					T	119961570	C	T	119961570	2	4	79	1	0	0	0	0	0	0	0	1	2838	767	27	1		1	CCDC60	12	119961570	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3606	119961570	13890325	13837	24154											
PRKAB1	5564	broad.mit.edu	37	chr12	120114475	120114475	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggacacggggatttcCgtaagtatgtgggcatctgc	13	8	1	0	rs146667625	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666C>T	c.(664-666)tcC>tcT	p.S222S	PRKAB1_ENST00000540121.1_Splice_Site_p.S56S|PRKAB1_ENST00000541640.1_Splice_Site_p.S222S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	222					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.e5+1		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)	C		0,4406		0,0,2203	109	100	103		666	-11	0.2	12	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	PRKAB1	NM_006253.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		222/271	120114475	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120114475C>T	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"AMPK beta 1"	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.666+1C>T	12.37:g.120114475C>T						PRKAB1_ENST00000541640.1_Splice_Site_p.S222_splice|PRKAB1_ENST00000540121.1_Splice_Site_p.S56_splice	p.S222_splice	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	5	1158	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		222					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Splice_Site	SNP	ENST00000229328.5	37	c.666_splice	CCDS9191.1																																																																																				0.572	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253	Silent	42	170	0	0	0	1	0	42	170					T	120114475	C	T	120114475	5	4	79	1	0	0	0	0	0	0	1	0	12542	666	23	1	684	1	PRKAB1	12	120114475	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152905	120114475	13737420	13838	24155											
CIT	11113	broad.mit.edu	37	chr12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccctgctgaggagcgtgCctggatctcaattacttcga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000261833.7	-	44	5612	c.5560G>A	c.(5560-5562)Gca>Aca	p.A1854T	CIT_ENST00000392521.2_Missense_Mutation_p.A1896T|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1854	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGAGCGTGCCTGGATCTCA	0.532																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5686-5688)Gca>Aca		citron (rho-interacting, serine/threonine kinase 21)							231	209	217					12																	120135797		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120135797C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5560G>A	12.37:g.120135797C>T	ENSP00000261833:p.Ala1854Thr					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1854T	p.A1896T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	45	5741	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1854					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5686G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636663	0.67130	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.03689	3.84;3.84	5.34	5.34	0.76211	Citron-like (3);	0.133331	0.49305	D	0.000142	T	0.05227	0.0139	L	0.29908	0.895	0.50813	D	0.999892	P;B;B	0.35793	0.521;0.149;0.013	B;B;B	0.38378	0.272;0.098;0.031	T	0.55276	-0.8166	10	0.29301	T	0.29	.	19.4207	0.94720	0.0:1.0:0.0:0.0	.	1896;1854;1372	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1896;1854	ENSP00000376306:A1896T;ENSP00000261833:A1854T	ENSP00000261833:A1854T	A	-	1	0	CIT	118620180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.649000	0.54417	2.653000	0.90120	0.655000	0.94253	GCA		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		83	953	0	0	0	1	0	83	953					T	120135797	C	T	120135797	3	4	79	1	0	0	0	0	1	0	0	0	3447	739	26	2	539	2	CIT	12	120135797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21322	120135797	13716098	13839	24156											
CIT	11113	broad.mit.edu	37	chr12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggtgaagtggatacagCtgcagggctctgaggtctct	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000261833.7	-	41	5256	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	CIT_ENST00000392521.2_Missense_Mutation_p.S1777N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1735	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGATACAGCTGCAGGGCTC	0.498																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5329-5331)aGc>aAc		citron (rho-interacting, serine/threonine kinase 21)							144	138	140					12																	120139738		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120139738C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5204G>A	12.37:g.120139738C>T	ENSP00000261833:p.Ser1735Asn					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S1735N	p.S1777N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	42	5385	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1735			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5330G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632957|4.632957	0.87660|0.87660	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05258	.|3.47;3.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.991;0.708	.|D;D;B	.|0.83275	.|0.996;0.988;0.425	T|T	0.00250|0.00250	-1.1878|-1.1878	5|10	.|0.34782	.|T	.|0.22	.|.	19.7849|19.7849	0.96432|0.96432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|N	1348|1777;1735	.|ENSP00000376306:S1777N;ENSP00000261833:S1735N	.|ENSP00000261833:S1735N	A|S	-|-	1|2	0|0	CIT|CIT	118624121|118624121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		123	430	0	0	0	1	0	123	430					T	120139738	C	T	120139738	3	4	79	1	0	0	0	0	1	0	0	0	3447	797	28	2	907	2	CIT	12	120139738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3941	120139738	13712157	13840	24157											
CIT	11113	broad.mit.edu	37	chr12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagagcctgctgcagagCgagaatctcagccttgtgct	12	10	1	3	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000261833.7	-	26	3356	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	CIT_ENST00000392521.2_Missense_Mutation_p.A1144T|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1102	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCTGCAGAGCGAGAATCTCA	0.562																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3430-3432)Gct>Act		citron (rho-interacting, serine/threonine kinase 21)		C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	57	52	54		3430,3304	5.4	0.7	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	58,58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1144/2070,1102/2028	120168356	3,13003	2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120168356C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3304G>A	12.37:g.120168356C>T	ENSP00000261833:p.Ala1102Thr					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1102T	p.A1144T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	27	3485	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1102			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3430G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437072	0.62955	4.54E-4	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.65549	-0.1;-0.16;1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.983;0.494	B;B;B	0.42882	0.401;0.204;0.056	T	0.49835	-0.8897	10	0.25106	T	0.35	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1144;1102;635	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1144;1102;144	ENSP00000376306:A1144T;ENSP00000261833:A1102T;ENSP00000446105:A144T	ENSP00000261833:A1102T	A	-	1	0	CIT	118652739	1.000000	0.71417	0.675000	0.29917	0.574000	0.36063	6.026000	0.70873	2.550000	0.86006	0.655000	0.94253	GCT		0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		42	150	0	0	0	1	0	42	150					T	120168356	C	T	120168356	3	4	79	1	0	0	0	0	1	0	0	0	3447	768	27	1	2867	1	CIT	12	120168356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28618	120168356	13683539	13841	24158											
CIT	11113	broad.mit.edu	37	chr12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctgctcctccagttttCggttctgggcctccaacttc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000261833.7	-	21	2544	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	CIT_ENST00000392521.2_Missense_Mutation_p.R873Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	831					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGTTTTCGGTTCTGGGC	0.542																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2617-2619)cGa>cAa		citron (rho-interacting, serine/threonine kinase 21)							182	172	175					12																	120195263		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120195263C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2492G>A	12.37:g.120195263C>T	ENSP00000261833:p.Arg831Gln					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R831Q	p.R873Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	22	2673	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	831					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2618G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.266140|2.266140	0.40095|0.40095	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65549	.|-0.09;-0.16	5.54|5.54	4.65|4.65	0.58169|0.58169	.|.	.|0.334286	.|0.29444	.|N	.|0.012140	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.03608|0.03608	-0.345|-0.345	0.34945|0.34945	D|D	0.750651|0.750651	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.13853	.|T	.|0.58	.|.	8.5349|8.5349	0.33357|0.33357	0.0:0.7713:0.0:0.2287|0.0:0.7713:0.0:0.2287	.|.	.|873;831;364	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	459|873;831	.|ENSP00000376306:R873Q;ENSP00000261833:R831Q	.|ENSP00000261833:R831Q	E|R	-|-	1|2	0|0	CIT|CIT	118679646|118679646	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	3.232000|3.232000	0.51302|0.51302	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.542	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		263	1007	0	0	0	1	0	263	1007					T	120195263	C	T	120195263	3	4	79	1	0	0	0	0	1	0	0	0	3447	884	31	1	3699	1	CIT	12	120195263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26907	120195263	13656632	13842	24159											
CCDC64	92558	broad.mit.edu	37	chr12	120436420	120436420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggagagtgatgtgaaGcagctacaggatgagttgga	17	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	175					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATGTGAAGCAGCTACAGG	0.517																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(523-525)aaG>aaA		coiled-coil domain containing 64							78	85	83					12																	120436420		2036	4193	6229	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120436420G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.525G>A	12.37:g.120436420G>A							p.K175K	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			2	525	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		175					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.525G>A	CCDS41845.1																																																																																				0.517	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		63	259	0	0	0	1	0	63	259					A	120436420	G	A	120436420	2	1	79	1	0	0	0	0	0	0	0	1	2842	962	34	2		2	CCDC64	12	120436420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241157	120436420	13415475	13843	24160											
CCDC64	92558	broad.mit.edu	37	chr12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgtcagatcggaaaCgggagctggagcatcgtctc	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	263					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCGGAAACGGGAGCTGGA	0.567																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(787-789)Cgg>Tgg		coiled-coil domain containing 64							106	109	108					12																	120502561		1967	4143	6110	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120502561C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.787C>T	12.37:g.120502561C>T	ENSP00000380690:p.Arg263Trp					CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	p.R263W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			4	787	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		263					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.787C>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584929	0.86748	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.78924	-1.22;1.4	5.52	5.52	0.82312	.	0.295893	0.32258	N	0.006347	T	0.80747	0.4682	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.52514	0.653;0.701	T	0.82396	-0.0478	10	0.66056	D	0.02	-16.1118	19.4454	0.94844	0.0:1.0:0.0:0.0	.	7;263	B4DNE7;Q6ZP65	.;BICR1_HUMAN	W	244;263;7	ENSP00000380690:R263W;ENSP00000399658:R7W	ENSP00000349605:R244W	R	+	1	2	CCDC64	118986944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	2.586000	0.87340	0.655000	0.94253	CGG		0.567	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		120	517	0	0	0	1	0	120	517					T	120502561	C	T	120502561	3	4	79	1	0	0	0	0	1	0	0	0	2842	527	19	1	801	1	CCDC64	12	120502561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66141	120502561	13349334	13844	24161											
GCN1L1	10985	broad.mit.edu	37	chr12	120568522	120568522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtgtctcatgagaaaGcccatgccccggaccccgct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7597-7599)ggC>ggT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57	60	59					12																	120568522		1956	4133	6089	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568522G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>T	12.37:g.120568522G>A							p.G2533G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			56	7611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2533					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7599C>T	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			35	209	0	0	0	1	0	35	209					A	120568522	G	A	120568522	2	1	79	1	0	0	0	0	0	0	0	1	6327	958	34	2		2	GCN1L1	12	120568522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65961	120568522	13283373	13845	24162											
GCN1L1	10985	broad.mit.edu	37	chr12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaataagctttgttctctCgcttcatgttggcctttttt	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	794					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2380-2382)cGa>cAa		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							236	231	233					12																	120599349		2116	4240	6356	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599349C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2381G>A	12.37:g.120599349C>T	ENSP00000300648:p.Arg794Gln						p.R794Q	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			22	2393	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		794					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2381G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843875	0.97016	.	.	ENSG00000089154	ENST00000300648	T	0.51071	0.72	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68762	-0.5323	10	0.41790	T	0.15	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	794	Q92616	GCN1L_HUMAN	Q	794	ENSP00000300648:R794Q	ENSP00000300648:R794Q	R	-	2	0	GCN1L1	119083732	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.232000	0.78116	2.767000	0.95098	0.655000	0.94253	CGA		0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			111	519	0	0	0	1	0	111	519					T	120599349	C	T	120599349	3	4	79	1	0	0	0	0	1	0	0	0	6327	884	31	1	5782	1	GCN1L1	12	120599349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30827	120599349	13252546	13846	24163											
GCN1L1	10985	broad.mit.edu	37	chr12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctcctccaagagtcCgtgcgccagcttaaagcccc	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	603					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1807-1809)Gga>Tga		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							91	95	94					12																	120602181		1963	4158	6121	SO:0001587	stop_gained	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602181C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1807G>T	12.37:g.120602181C>A	ENSP00000300648:p.Gly603*						p.G603*	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1819	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		603					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Nonsense_Mutation	SNP	ENST00000300648.6	37	c.1807G>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103971	0.98066	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	603	.	ENSP00000300648:G603X	G	-	1	0	GCN1L1	119086564	1.000000	0.71417	0.733000	0.30861	0.934000	0.57294	7.232000	0.78116	2.769000	0.95229	0.655000	0.94253	GGA		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			115	601	1	0	6.91701e-41	1	8.39604e-41	115	601					A	120602181	C	A	120602181	4	1	79	1	0	0	0	0	0	1	0	0	6327	661	23	3	6372	3	GCN1L1	12	120602181	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	120602181	13249714	13847	24164											
PXN	5829	broad.mit.edu	37	chr12	120650126	120650126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcagggcacctagcagaaGagcttgaggaagcagttctg	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000228307.7	-	12	1908	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L|PXN_ENST00000397506.3_Silent_p.L401L|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Silent_p.L587L|PXN-AS1_ENST00000538804.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN_ENST00000267257.7_Silent_p.L603L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	589	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1201-1203)ctC>ctT		paxillin							66	75	72					12																	120650126		2101	4216	6317	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120650126G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1767C>T	12.37:g.120650126G>A						PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.L589L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000458477.2_Silent_p.L422L	p.L401L			P49023	PAXI_HUMAN			9	2256	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		589			LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1203C>T	CCDS44997.1																																																																																				0.587	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		35	117	0	0	0	1	0	35	117					A	120650126	G	A	120650126	2	1	79	1	0	0	0	0	0	0	0	1	12902	929	33	2		2	PXN	12	120650126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47945	120650126	13201769	13848	24165											
PXN	5829	broad.mit.edu	37	chr12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgggttatgctgtacagCgttcagttccagcagcaggc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000228307.7	-	4	601	c.460G>A	c.(460-462)Gct>Act	p.A154T	PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.A152T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	154					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGTACAGCGTTCAGTTCC	0.612																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(454-456)Gct>Act		paxillin							82	84	83					12																	120660699		2012	4186	6198	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120660699C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.460G>A	12.37:g.120660699C>T	ENSP00000228307:p.Ala154Thr					PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.A154T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T	p.A152T			P49023	PAXI_HUMAN			4	929	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		154					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.454G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790286	0.70337	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.73799	-0.3869	10	0.17369	T	0.5	-8.7967	18.7469	0.91797	0.0:1.0:0.0:0.0	.	154;154;154	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	T	21;154;154;152;154;155;21;21;21	ENSP00000395536:A21T;ENSP00000228307:A154T;ENSP00000391283:A154T;ENSP00000443887:A152T;ENSP00000267257:A154T;ENSP00000443745:A155T;ENSP00000447180:A21T;ENSP00000446607:A21T;ENSP00000446650:A21T	ENSP00000228307:A154T	A	-	1	0	PXN	119145082	1.000000	0.71417	0.524000	0.27887	0.323000	0.28346	4.467000	0.60155	2.442000	0.82660	0.591000	0.81541	GCT		0.612	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		37	148	0	0	0	1	0	37	148					T	120660699	C	T	120660699	3	4	79	1	0	0	0	0	1	0	0	0	12902	768	27	1	1351	1	PXN	12	120660699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10573	120660699	13191196	13849	24166											
MSI1	4440	broad.mit.edu	37	chr12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtcccctgcttcagtggTacccattggtgaaggctgtg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	361					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(1081-1083)tAc>tCc		musashi RNA-binding protein 1							119	111	114					12																	120783401		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120783401T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.1082A>C	12.37:g.120783401T>G	ENSP00000257552:p.Tyr361Ser						p.Y361S	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			14	1170	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		361					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.1082A>C	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868890	0.72065	.	.	ENSG00000135097	ENST00000257552	T	0.39229	1.09	4.72	2.24	0.28232	.	0.000000	0.56097	D	0.000027	T	0.58409	0.2120	M	0.68952	2.095	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	.	9.8364	0.40971	0.2735:0.0:0.0:0.7265	.	361	O43347	MSI1H_HUMAN	S	361	ENSP00000257552:Y361S	ENSP00000257552:Y361S	Y	-	2	0	MSI1	119267784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	0.276000	0.22118	0.454000	0.30748	TAC		0.572	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		89	505	0	0	0	1	0	89	505					G	120783401	T	G	120783401	3	3	79	1	0	0	0	0	1	0	0	0	9916	1638	57	4	10	4	MSI1	12	120783401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122702	120783401	13068494	13850	24167											
RNF10	9921	broad.mit.edu	37	chr12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatccaagcgttataatcGcaaacgtgaactttcctacc	7	11	0	1	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(193-195)cGc>cAc		ring finger protein 10							114	114	114					12																	120984244		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120984244G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.194G>A	12.37:g.120984244G>A	ENSP00000322242:p.Arg65His					RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			2	655	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		65			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.194G>A	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322463	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.91295	-2.8;-2.82	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95555	0.8624	10	0.62326	D	0.03	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	65	Q8N5U6	RNF10_HUMAN	H	65;65;65;15	ENSP00000322242:R65H;ENSP00000415682:R65H	ENSP00000322242:R65H	R	+	2	0	RNF10	119468627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	2.479000	0.83701	0.655000	0.94253	CGC		0.418	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			99	387	0	0	0	1	0	99	387					A	120984244	G	A	120984244	3	1	79	1	0	0	0	0	1	0	0	0	13472	1087	38	1	200	1	RNF10	12	120984244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200843	120984244	12867651	13851	24168											
ACADS	35	broad.mit.edu	37	chr12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcctgggaggcttcggCtgccgtggtctttgccagca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	194					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GAGGCTTCGGCTGCCGTGGTC	0.617																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(580-582)gCt>gTt		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						56	57	57					12																	121175748		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121175748C>T	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.581C>T	12.37:g.121175748C>T	ENSP00000242592:p.Ala194Val					ACADS_ENST00000411593.2_Intron	p.A194V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			5	732	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	194					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.581C>T	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429904	0.62844	.	.	ENSG00000122971	ENST00000242592	D	0.94828	-3.53	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	N	0.02266	-0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.80852	-0.1197	10	0.05959	T	0.93	.	18.1749	0.89758	0.0:1.0:0.0:0.0	.	194;194	E5KSD5;P16219	.;ACADS_HUMAN	V	194	ENSP00000242592:A194V	ENSP00000242592:A194V	A	+	2	0	ACADS	119660131	1.000000	0.71417	0.282000	0.24776	0.900000	0.52787	7.459000	0.80802	2.288000	0.76882	0.462000	0.41574	GCT		0.617	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		75	346	0	0	0	1	0	75	346					T	121175748	C	T	121175748	3	4	79	1	0	0	0	0	1	0	0	0	114	797	28	2	599	2	ACADS	12	121175748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191504	121175748	12676147	13852	24169											
SPPL3	121665	broad.mit.edu	37	chr12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtggaaaggctcagAccacatccgccggaggtcgc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	370						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468																																						ENST00000353487.2																			0											c.(1105-1107)Tct>Gct		signal peptide peptidase like 3							67	61	63					12																	121202852		2203	4300	6503	SO:0001583	missense	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121202852A>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1105T>G	12.37:g.121202852A>C	ENSP00000288680:p.Ser369Ala						p.S369A	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			11	1608	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		370					Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	c.1105T>G	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613923	0.46631	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18016	2.24	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.43757	1.38	0.80722	D	1	P;P	0.39424	0.673;0.625	B;B	0.40256	0.324;0.252	T	0.01977	-1.1236	10	0.33940	T	0.23	-32.8141	15.477	0.75489	1.0:0.0:0.0:0.0	.	370;369	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	A	369;368	ENSP00000288680:S369A	ENSP00000288680:S369A	S	-	1	0	AC069214.1	119687235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TCT		0.468	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		35	148	0	0	0	1	0	35	148					C	121202852	A	C	121202852	3	2	79	1	0	0	0	0	1	0	0	0	15142	275	10	4	53	4	SPPL3	12	121202852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27104	121202852	12649043	13853	24170											
HNF1A	6927	broad.mit.edu	37	chr12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccagcctcacgcccAccaagcaggtaaggtccagg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A	539					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1615-1617)Acc>Gcc		HNF1 homeobox A							80	82	81					12																	121437184		2203	4299	6502	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437184A>G	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1615A>G	12.37:g.121437184A>G	ENSP00000257555:p.Thr539Ala					HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A|HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A	p.T539A			P20823	HNF1A_HUMAN			8	1841	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		539					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1615A>G	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079208	0.55753	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.97089	-4.24;-4.24;-4.24	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.099892	0.43110	D	0.000606	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.26002	0.114;0.139	B;B	0.24541	0.042;0.054	D	0.92434	0.5956	10	0.48119	T	0.1	-34.5381	14.8565	0.70341	1.0:0.0:0.0:0.0	.	539;539	F5H0K0;P20823	.;HNF1A_HUMAN	A	539;431;539;360;539;539	ENSP00000257555:T539A;ENSP00000443112:T539A;ENSP00000438804:T539A	ENSP00000257555:T539A	T	+	1	0	HNF1A	119921567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.104000	0.64026	0.528000	0.53228	ACC		0.682	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		115	649	0	0	0	1	0	115	649					G	121437184	A	G	121437184	3	3	79	1	0	0	0	0	1	0	0	0	7281	159	6	4	1645	4	HNF1A	12	121437184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	234332	121437184	12414711	13854	24171											
C12orf43	64897	broad.mit.edu	37	chr12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccactgttccagggCtgtggatggctgactcctgt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000288757.3	-	6	558	c.536G>A	c.(535-537)aGc>aAc	p.S179N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000445832.3_Missense_Mutation_p.S149N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	179										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602																																						ENST00000445832.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(445-447)aGc>aAc		chromosome 12 open reading frame 43							117	132	127					12																	121442209		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121442209C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.536G>A	12.37:g.121442209C>T	ENSP00000288757:p.Ser179Asn					C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000288757.3_Missense_Mutation_p.S179N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N	p.S149N			Q96C57	CL043_HUMAN			6	548	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		179			Poly-Ser.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.446G>A	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138276|2.138276	0.37728|0.37728	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.48836	.|0.82;0.81;0.82;0.8;0.81	5.0|5.0	3.15|3.15	0.36227|0.36227	.|.	.|1.472730	.|0.03567	.|N	.|0.228022	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32467	.|0.006;0.006;0.372;0.006;0.152	.|B;B;B;B;B	.|0.32677	.|0.012;0.005;0.15;0.005;0.08	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.17369	.|T	.|0.5	-0.4383|-0.4383	9.3139|9.3139	0.37921|0.37921	0.1449:0.7773:0.0:0.0778|0.1449:0.7773:0.0:0.0778	.|.	.|169;138;180;169;179	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|N	133|149;179;180;138;169;117;134	.|ENSP00000409788:S149N;ENSP00000288757:S179N;ENSP00000442224:S180N;ENSP00000437803:S169N;ENSP00000442041:S117N	.|ENSP00000288757:S179N	A|S	-|-	1|2	0|0	C12orf43|C12orf43	119926592|119926592	0.068000|0.068000	0.21057|0.21057	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.963000|0.963000	0.29293|0.29293	0.771000|0.771000	0.33359|0.33359	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC		0.602	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		77	848	0	0	0	1	0	77	848					T	121442209	C	T	121442209	3	4	79	1	0	0	0	0	1	0	0	0	1694	797	28	2	256	2	C12orf43	12	121442209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5025	121442209	12409686	13855	24172											
OASL	8638	broad.mit.edu	37	chr12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacttggccttggaaTtccagctgctgctgcttttt	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	477	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGGAATTCCAGCTGCT	0.537																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(1429-1431)gaA>gaC		2'-5'-oligoadenylate synthetase-like							75	72	73					12																	121458478		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121458478T>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1431A>C	12.37:g.121458478T>G	ENSP00000257570:p.Glu477Asp					OASL_ENST00000339275.5_3'UTR	p.E477D	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			6	1701	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		477			Ubiquitin-like 2.		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.1431A>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254112	0.39896	.	.	ENSG00000135114	ENST00000257570	T	0.73152	-0.72	5.65	1.84	0.25277	Ubiquitin supergroup (1);Ubiquitin (2);	0.962372	0.08539	N	0.930852	T	0.60676	0.2287	L	0.41236	1.265	0.09310	N	1	P	0.38677	0.642	B	0.37550	0.253	T	0.49523	-0.8931	10	0.52906	T	0.07	-0.1712	7.0538	0.25087	0.0:0.6396:0.0:0.3604	.	477	Q15646	OASL_HUMAN	D	477	ENSP00000257570:E477D	ENSP00000257570:E477D	E	-	3	2	OASL	119942861	0.208000	0.23494	0.001000	0.08648	0.070000	0.16714	0.949000	0.29109	0.173000	0.19788	-0.242000	0.12053	GAA		0.537	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		12	271	0	0	0	1	0	12	271					G	121458478	T	G	121458478	3	3	79	1	0	0	0	0	1	0	0	0	10844	1490	52	4	117	4	OASL	12	121458478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16269	121458478	12393417	13856	24173											
ANAPC5	51433	broad.mit.edu	37	chr12	121746318	121746318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggtaccccatgagaggGcagctcctgatgcagctgcc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121746318G>A	ENST00000261819.3	-	17	2354	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	745					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAGGGCAGCTCCTGA	0.552																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2233-2235)Ccc>Tcc		anaphase promoting complex subunit 5							86	84	85					12																	121746318		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746318G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2233C>T	12.37:g.121746318G>A	ENSP00000261819:p.Pro745Ser					ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S	p.P745S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2354	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		745					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2233C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758232	0.69763	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.61	5.61	0.85477	.	0.053087	0.85682	D	0.000000	T	0.54951	0.1890	L	0.59436	1.845	0.80722	D	1	P;B;B	0.38597	0.639;0.123;0.264	B;B;B	0.35655	0.207;0.042;0.061	T	0.53041	-0.8494	9	0.24483	T	0.36	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	411;633;745	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	S	633;732;745;411;347;633	.	ENSP00000261819:P745S	P	-	1	0	ANAPC5	120230701	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	CCC		0.552	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			9	374	0	0	0	1	0	9	374					A	121746318	G	A	121746318	3	1	79	1	0	0	0	0	1	0	0	0	605	1203	42	2	38	2	ANAPC5	12	121746318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287840	121746318	12105577	13857	24174											
ANAPC5	51433	broad.mit.edu	37	chr12	121757499	121757499	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagttttcaaggtttcttaCctataaacaccctctatgct	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.e13+1		anaphase promoting complex subunit 5							62	56	58					12																	121757499		2203	4299	6502	SO:0001630	splice_region_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121757499C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1637+1G>T	12.37:g.121757499C>A						ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site		NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			13	1759	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							E9PFB2|Q8N4H7|Q9BQD4	Splice_Site	SNP	ENST00000261819.3	37		CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680924	0.68042	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120241882	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.608000	0.67654	2.598000	0.87819	0.563000	0.77884	.		0.303	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		Intron	30	93	1	0	1.16021e-09	1	1.22295e-09	30	93					A	121757499	C	A	121757499	5	1	79	1	0	0	0	0	0	0	1	0	605	521	18	3	649	3	ANAPC5	12	121757499	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11181	121757499	12094396	13858	24175											
ANAPC5	51433	broad.mit.edu	37	chr12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaagtgctttaacacttcaGaagctgcagcaaaacagccc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1459-1461)tCt>tAt		anaphase promoting complex subunit 5							83	75	78					12																	121758243		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121758243G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1460C>A	12.37:g.121758243G>T	ENSP00000261819:p.Ser487Tyr					ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y	p.S487Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			12	1581	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		487					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1460C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339557	0.41398	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.59	4.68	0.58851	Tetratricopeptide-like helical (1);	0.224732	0.47455	D	0.000226	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.16603	0.007;0.002;0.002;0.018	B;B;B;B	0.15870	0.008;0.003;0.009;0.014	T	0.46400	-0.9194	10	0.35671	T	0.21	.	15.5473	0.76112	0.0:0.1432:0.8568:0.0	.	153;89;375;487	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	375;474;487;153;89;375	ENSP00000415061:S375Y;ENSP00000439875:S474Y;ENSP00000261819:S487Y;ENSP00000343787:S375Y	ENSP00000261819:S487Y	S	-	2	0	ANAPC5	120242626	1.000000	0.71417	0.703000	0.30354	0.903000	0.53119	5.670000	0.68088	1.450000	0.47717	0.655000	0.94253	TCT		0.418	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			49	225	1	0	1.81118e-26	1	2.08805e-26	49	225					T	121758243	G	T	121758243	3	4	79	1	0	0	0	0	1	0	0	0	605	942	33	3	831	3	ANAPC5	12	121758243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	744	121758243	12093652	13859	24176											
ANAPC5	51433	broad.mit.edu	37	chr12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcttctttttccatttttCtttcaccctcatctctactg	2	13	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(553-555)aGa>aTa		anaphase promoting complex subunit 5							309	294	299					12																	121783678		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121783678C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.554G>T	12.37:g.121783678C>A	ENSP00000261819:p.Arg185Ile					ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I	p.R185I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			4	675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		185					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.554G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652843	0.29336	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.42	4.52	0.55395	.	0.300312	0.41605	D	0.000858	T	0.13030	0.0316	N	0.14661	0.345	0.47737	D	0.999503	B;B	0.14805	0.002;0.011	B;B	0.15052	0.008;0.012	T	0.07520	-1.0768	10	0.18276	T	0.48	.	14.5878	0.68339	0.0:0.9286:0.0:0.0714	.	86;185	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	86;185;185;86;64;86	ENSP00000415061:R86I;ENSP00000439875:R185I;ENSP00000261819:R185I;ENSP00000343787:R86I;ENSP00000445310:R64I;ENSP00000440800:R86I	ENSP00000261819:R185I	R	-	2	0	ANAPC5	120268061	0.984000	0.35163	0.799000	0.32177	0.990000	0.78478	3.369000	0.52365	1.251000	0.43983	0.655000	0.94253	AGA		0.383	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			193	894	1	0	7.44903e-92	1	9.56706e-92	193	894					A	121783678	C	A	121783678	3	1	79	1	0	0	0	0	1	0	0	0	605	913	32	3	1769	3	ANAPC5	12	121783678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25435	121783678	12068217	13860	24177											
KDM2B	84678	broad.mit.edu	37	chr12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggctcaccaggcagccGgttgatgagccagctcagct	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377071.4	-	20	3511	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1078W	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1147					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3232-3234)Cgg>Tgg		lysine (K)-specific demethylase 2B							34	39	37					12																	121878882		2037	4196	6233	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878882G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3439C>T	12.37:g.121878882G>A	ENSP00000366271:p.Arg1147Trp					KDM2B_ENST00000377071.4_Missense_Mutation_p.R1147W|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000536437.1_Intron	p.R1078W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			19	3638	-			1147			F-box.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3232C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626902	0.66901	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.38401	1.14;1.14;1.14	6.05	2.99	0.34606	.	0.000000	0.47852	D	0.000205	T	0.62684	0.2448	M	0.90082	3.085	0.80722	D	1	P;B;D;P	0.89917	0.942;0.071;1.0;0.861	P;B;D;B	0.87578	0.522;0.011;0.998;0.227	T	0.66870	-0.5814	10	0.87932	D	0	-27.807	9.1238	0.36803	0.15:0.0:0.6901:0.16	.	587;1147;1078;590	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	1135;515;1078;1147;590;1150	ENSP00000437821:R515W;ENSP00000366269:R1078W;ENSP00000366271:R1147W	ENSP00000261824:R1150W	R	-	1	2	KDM2B	120363265	1.000000	0.71417	0.480000	0.27341	0.828000	0.46876	2.543000	0.45752	0.905000	0.36596	0.643000	0.83706	CGG		0.622	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		28	186	0	0	0	1	0	28	186					A	121878882	G	A	121878882	3	1	79	1	0	0	0	0	1	0	0	0	8155	1115	39	1	639	1	KDM2B	12	121878882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95204	121878882	11973013	13861	24178											
KDM2B	84678	broad.mit.edu	37	chr12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcatgcacacacacaGgtcttggtggctgaggtagc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377071.4	-	19	3316	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377069.4_Missense_Mutation_p.L1013M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1082	F-box.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3037-3039)Ctg>Atg		lysine (K)-specific demethylase 2B							34	38	37					12																	121880000		2067	4189	6256	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880000G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3244C>A	12.37:g.121880000G>T	ENSP00000366271:p.Leu1082Met					KDM2B_ENST00000377071.4_Missense_Mutation_p.L1082M|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000536437.1_Intron	p.L1013M	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3443	-			1082					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3037C>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869251	0.72065	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22743	1.94;1.94;1.94	5.85	2.95	0.34219	F-box domain, cyclin-like (2);	0.147705	0.30575	N	0.009333	T	0.53498	0.1800	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.996	D;D;D;D	0.91635	0.981;0.999;0.999;0.975	T	0.58002	-0.7713	10	0.87932	D	0	-20.2148	9.0297	0.36252	0.3872:0.0:0.6128:0.0	.	522;1082;1013;525	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	1070;450;1013;1082;525;1085	ENSP00000437821:L450M;ENSP00000366269:L1013M;ENSP00000366271:L1082M	ENSP00000261824:L1085M	L	-	1	2	KDM2B	120364383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.798000	0.47884	0.334000	0.23590	0.650000	0.86243	CTG		0.662	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		50	199	1	0	2.14674e-31	1	2.52731e-31	50	199					T	121880000	G	T	121880000	3	4	79	1	0	0	0	0	1	0	0	0	8155	991	35	3	838	3	KDM2B	12	121880000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	121880000	11971895	13862	24179											
KDM2B	84678	broad.mit.edu	37	chr12	121880187	121880187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggagatgacacggggCgggctgcgcaggctgggccc	21	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377071.4	-	19	3129	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377069.4_Silent_p.P950P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1019	Pro-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2848-2850)ccG>ccA		lysine (K)-specific demethylase 2B							5	6	6					12																	121880187		1642	3649	5291	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880187C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3057G>A	12.37:g.121880187C>T						KDM2B_ENST00000377071.4_Silent_p.P1019P|KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000536437.1_Intron	p.P950P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3256	-			1019					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2850G>A	CCDS41850.1																																																																																				0.741	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		11	81	0	0	0	1	0	11	81					T	121880187	C	T	121880187	2	4	79	1	0	0	0	0	0	0	0	1	8155	755	27	1		1	KDM2B	12	121880187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	121880187	11971708	13863	24180											
KDM2B	84678	broad.mit.edu	37	chr12	121880308	121880308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggctcctcgccctcgCtctcaggctccgacttgatg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880308C>T	ENST00000377071.4	-	19	3008	c.2936G>A	c.(2935-2937)aGc>aAc	p.S979N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S910N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	979					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGCCCTCGCTCTCAGGCTC	0.677																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2728-2730)aGc>aAc		lysine (K)-specific demethylase 2B							27	32	30					12																	121880308		2129	4242	6371	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880308C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2936G>A	12.37:g.121880308C>T	ENSP00000366271:p.Ser979Asn					KDM2B_ENST00000377071.4_Missense_Mutation_p.S979N|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000536437.1_Intron	p.S910N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3135	-			979					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2729G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458903	0.43634	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24538	2.15;2.43;1.85	5.62	4.73	0.59995	.	1.126930	0.06412	N	0.720756	T	0.32823	0.0842	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.002	T	0.03555	-1.1025	10	0.44086	T	0.13	-15.1863	14.2533	0.66035	0.0:0.9285:0.0:0.0715	.	419;979;910;422	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	967;347;910;979;422;982	ENSP00000437821:S347N;ENSP00000366269:S910N;ENSP00000366271:S979N	ENSP00000261824:S982N	S	-	2	0	KDM2B	120364691	0.998000	0.40836	0.882000	0.34594	0.079000	0.17450	3.786000	0.55431	1.371000	0.46172	0.655000	0.94253	AGC		0.677	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	219	0	0	0	1	0	8	219					T	121880308	C	T	121880308	3	4	79	1	0	0	0	0	1	0	0	0	8155	797	28	2	1146	2	KDM2B	12	121880308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	121880308	11971587	13864	24181											
KDM2B	84678	broad.mit.edu	37	chr12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcttctcgtatttccGcttcttcctcaggtgcacgt	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377071.4	-	16	2482	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R773W	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	804					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2317-2319)Cgg>Tgg		lysine (K)-specific demethylase 2B							72	79	77					12																	121881856		2036	4166	6202	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121881856G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2410C>T	12.37:g.121881856G>A	ENSP00000366271:p.Arg804Trp		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000377071.4_Missense_Mutation_p.R804W|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000536437.1_Intron	p.R773W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2723	-			804					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2317C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031468	0.75504	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26518	2.01;2.25;1.73	5.92	5.02	0.67125	.	0.275088	0.24502	N	0.037974	T	0.45357	0.1338	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;P;D	0.65987	0.876;0.94;0.874;0.912	T	0.42344	-0.9457	10	0.66056	D	0.02	-10.6048	15.1846	0.72989	0.0:0.0:0.6697:0.3303	.	244;804;773;247	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	804;172;773;804;247;807	ENSP00000437821:R172W;ENSP00000366269:R773W;ENSP00000366271:R804W	ENSP00000261824:R807W	R	-	1	2	KDM2B	120366239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	1.491000	0.48482	0.561000	0.74099	CGG		0.657	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		152	549	0	0	0	1	0	152	549					A	121881856	G	A	121881856	3	1	79	1	0	0	0	0	1	0	0	0	8155	1086	38	1	1684	1	KDM2B	12	121881856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1548	121881856	11970039	13865	24182											
KDM2B	84678	broad.mit.edu	37	chr12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccgcaggcaggcctcgCacttgcggcatcgcgtccgg	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377071.4	-	13	1919	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C585Y	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	616					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1753-1755)tGc>tAc		lysine (K)-specific demethylase 2B							20	23	22					12																	121891035		1990	4162	6152	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121891035C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1847G>A	12.37:g.121891035C>T	ENSP00000366271:p.Cys616Tyr					KDM2B_ENST00000377071.4_Missense_Mutation_p.C616Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	p.C585Y	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			13	2160	-			616					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1754G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945866	0.92593	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.73575	0.32;-0.3;-0.76	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000021	D	0.90410	0.6998	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.977;0.998	D	0.92755	0.6219	10	0.87932	D	0	-19.2876	18.8727	0.92322	0.0:1.0:0.0:0.0	.	56;499;616;585;56	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	Y	616;585;616;499;616;56;616	ENSP00000366269:C585Y;ENSP00000366271:C616Y;ENSP00000445196:C499Y	ENSP00000261824:C616Y	C	-	2	0	KDM2B	120375418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.694000	0.91930	0.555000	0.69702	TGC		0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		28	112	0	0	0	1	0	28	112					T	121891035	C	T	121891035	3	4	79	1	0	0	0	0	1	0	0	0	8155	710	25	2	2259	2	KDM2B	12	121891035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9179	121891035	11960860	13866	24183											
MORN3	283385	broad.mit.edu	37	chr12	122097217	122097217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacttccagtccccctcataGatggctcctttcttcttcca	4	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	61						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(181-183)atC>atT		MORN repeat containing 3							140	110	120					12																	122097217		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122097217G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.183C>T	12.37:g.122097217G>A							p.I61I	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	2	353	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		61					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.183C>T	CCDS31917.1																																																																																				0.587	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		38	330	0	0	0	1	0	38	330					A	122097217	G	A	122097217	2	1	79	1	0	0	0	0	0	0	0	1	9750	932	33	2		2	MORN3	12	122097217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206182	122097217	11754678	13867	24184											
MORN3	283385	broad.mit.edu	37	chr12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcacgttgtccttccactCgcccacatagtagtcgccat	6	15	1	0	rs190870395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18366	0.0		0.0	False		,,,				2504	0.0					ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(121-123)Gag>Aag		MORN repeat containing 3							123	97	106					12																	122107269		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122107269C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.121G>A	12.37:g.122107269C>T	ENSP00000347486:p.Glu41Lys		OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1516		p.E41K	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	291	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		41					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.121G>A	CCDS31917.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.114304	0.77210	.	.	ENSG00000139714	ENST00000355329	T	0.62364	0.03	5.11	3.25	0.37280	.	0.052848	0.64402	D	0.000001	T	0.75421	0.3847	M	0.76938	2.355	0.43271	D	0.995226	D	0.89917	1.0	D	0.87578	0.998	T	0.74417	-0.3672	10	0.62326	D	0.03	.	7.7258	0.28759	0.0:0.747:0.1628:0.0902	.	41	Q6PF18	MORN3_HUMAN	K	41	ENSP00000347486:E41K	ENSP00000347486:E41K	E	-	1	0	MORN3	120591652	0.970000	0.33590	1.000000	0.80357	0.799000	0.45148	2.323000	0.43823	0.639000	0.30564	0.462000	0.41574	GAG		0.627	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		107	483	0	0	0	1	0	107	483					T	122107269	C	T	122107269	3	4	79	1	0	0	0	0	1	0	0	0	9750	893	31	1	621	1	MORN3	12	122107269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10052	122107269	11744626	13868	24185											
MORN3	283385	broad.mit.edu	37	chr12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttcctctgggccttccGgtcccaccccttccacaggg	10	19	1	0	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	19						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCCTTCCGGTCCCACCCC	0.592																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(55-57)Cgg>Tgg		MORN repeat containing 3		G	TRP/ARG	0,4406		0,0,2203	127	111	117		55	2.3	0.4	12	dbSNP_126	117	8,8592	6.4+/-24.3	0,8,4292	yes	missense	MORN3	NM_173855.4	101	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	probably-damaging	19/241	122107335	8,12998	2203	4300	6503	SO:0001583	missense	283385							g.chr12:122107335G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.55C>T	12.37:g.122107335G>A	ENSP00000347486:p.Arg19Trp						p.R19W	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	225	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		19					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.55C>T	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450955	0.43531	0.0	9.3E-4	ENSG00000139714	ENST00000355329	T	0.73363	-0.74	5.32	2.34	0.29019	.	1.198000	0.06160	N	0.675752	T	0.70945	0.3282	L	0.50333	1.59	0.32464	N	0.543759	D	0.56287	0.975	B	0.43809	0.432	T	0.65672	-0.6111	10	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.1542:0.5267:0.3191	rs35779661	19	Q6PF18	MORN3_HUMAN	W	19	ENSP00000347486:R19W	ENSP00000347486:R19W	R	-	1	2	MORN3	120591718	0.599000	0.26891	0.356000	0.25785	0.892000	0.51952	0.652000	0.24888	0.268000	0.21939	0.462000	0.41574	CGG		0.592	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		115	571	0	0	0	1	0	115	571					A	122107335	G	A	122107335	3	1	79	1	0	0	0	0	1	0	0	0	9750	1115	39	1	687	1	MORN3	12	122107335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	122107335	11744560	13869	24186											
RHOF	54509	broad.mit.edu	37	chr12	122219028	122219028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggtgggattcatgacGtcatagcagatgagcacgag	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000267205.2	-	3	925	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TMEM120B_ENST00000538055.1_3'UTR|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|RHOF_ENST00000537265.1_De_novo_Start_OutOfFrame	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	99					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642																																						ENST00000267205.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(295-297)gaC>gaT		ras homolog family member F (in filopodia)							134	123	127					12																	122219028		2203	4300	6503	SO:0001819	synonymous_variant	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122219028G>A	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.297C>T	12.37:g.122219028G>A						TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	p.D99D	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	925	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		99					Q8WVB1|Q9NXH6	Silent	SNP	ENST00000267205.2	37	c.297C>T	CCDS9222.1																																																																																				0.642	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			55	329	0	0	0	1	0	55	329					A	122219028	G	A	122219028	2	1	79	1	0	0	0	0	0	0	0	1	13388	1136	40	1		1	RHOF	12	122219028	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111693	122219028	11632867	13870	24187											
HPD	3242	broad.mit.edu	37	chr12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctctctctcaagtggCgaatctgtttcagagcaaag	10	11	5	1	rs140144597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000289004.4	-	12	871	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_ENST00000543163.1_Missense_Mutation_p.R240H	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		16832	0.0		0.001	False		,,,				2504	0.001					ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(718-720)cGc>cAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114	107	109		719,836	2.3	1	12	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HPD	NM_001171993.1,NM_002150.2	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	240/355,279/394	122281734	3,13003	2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122281734C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.836G>A	12.37:g.122281734C>T	ENSP00000289004:p.Arg279His					HPD_ENST00000289004.4_Missense_Mutation_p.R279H	p.R240H	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	13	1164	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		279					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.719G>A	CCDS9224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	HPD	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC		0.537	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		36	208	0	0	0	1	0	36	208					T	122281734	C	T	122281734	3	4	79	1	0	0	0	0	1	0	0	0	7362	768	27	1	357	1	HPD	12	122281734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62706	122281734	11570161	13871	24188											
HPD	3242	broad.mit.edu	37	chr12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgtttgattacatggCtgaccacctcccgggaaccg	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000289004.4	-	4	211	c.176G>A	c.(175-177)aGc>aAc	p.S59N	HPD_ENST00000543163.1_Missense_Mutation_p.S20N|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	59					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(58-60)aGc>aAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						80	80	80					12																	122295256		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122295256C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.176G>A	12.37:g.122295256C>T	ENSP00000289004:p.Ser59Asn					HPD_ENST00000289004.4_Missense_Mutation_p.S59N	p.S20N	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	504	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		59					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.59G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671351	0.88348	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.63913	-0.07;-0.07	5.48	4.54	0.55810	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.149579	0.64402	D	0.000008	T	0.72228	0.3434	M	0.90870	3.155	0.49915	D	0.999838	P	0.36330	0.548	B	0.41723	0.365	T	0.78094	-0.2338	10	0.72032	D	0.01	-48.2563	12.0439	0.53469	0.0:0.7096:0.2904:0.0	.	59	P32754	HPPD_HUMAN	N	59;56;20	ENSP00000289004:S59N;ENSP00000441677:S20N	ENSP00000289004:S59N	S	-	2	0	HPD	120779639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.017000	0.70805	2.741000	0.93983	0.555000	0.69702	AGC		0.547	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		68	399	0	0	0	1	0	68	399					T	122295256	C	T	122295256	3	4	79	1	0	0	0	0	1	0	0	0	7362	797	28	2	1049	2	HPD	12	122295256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13522	122295256	11556639	13872	24189											
PSMD9	5715	broad.mit.edu	37	chr12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctccccagccagcatcGcggtaatccaggggttggcc	13	16	0	0	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000541212.1	+	3	577	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622																																						ENST00000544724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(184-186)Gcg>Acg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 9		G	THR/ALA	1,4405		0,1,2202	34	39	37		451	4.7	1	12	dbSNP_134	37	0,8600		0,0,4300	no	missense	PSMD9	NM_002813.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	151/224	122337749	1,13005	2203	4300	6503	SO:0001583	missense	5715				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity	g.chr12:122337749G>A	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.451G>A	12.37:g.122337749G>A	ENSP00000440485:p.Ala151Thr					PSMD9_ENST00000541212.1_Missense_Mutation_p.A151T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T	p.A62T			O00233	PSMD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)	1	2573	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		151					B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	ENST00000541212.1	37	c.184G>A	CCDS9225.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809965	0.90707	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.62	4.66	0.58398	PDZ/DHR/GLGF (2);	0.103761	0.64402	D	0.000002	T	0.60301	0.2258	H	0.98388	4.22	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.943	T	0.73062	-0.4101	10	0.66056	D	0.02	-36.6176	11.2076	0.48780	0.0:0.0:0.5971:0.4029	.	151;151	F8W7V8;O00233	.;PSMD9_HUMAN	T	151;151;151;151;62	ENSP00000440485:A151T;ENSP00000340847:A151T;ENSP00000261817:A151T;ENSP00000443081:A151T;ENSP00000443929:A62T	ENSP00000261817:A151T	A	+	1	0	PSMD9	120822132	1.000000	0.71417	0.952000	0.39060	0.845000	0.48019	3.743000	0.55104	2.648000	0.89879	0.563000	0.77884	GCG		0.622	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	NM_002813		38	221	0	0	0	1	0	38	221					A	122337749	G	A	122337749	3	1	79	1	0	0	0	0	1	0	0	0	12752	1087	38	1	461	1	PSMD9	12	122337749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	122337749	11514146	13873	24190											
WDR66	144406	broad.mit.edu	37	chr12	122380800	122380800	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctctactgtcacctacaGaaggtatgcatctggaagtg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000288912.4	+	7	1964		c.e7-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66								calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCACCTACAGAAGGTATGCA	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e7-1		WD repeat domain 66							98	99	99					12																	122380800		2004	4190	6194	SO:0001630	splice_region_variant	144406						calcium ion binding	g.chr12:122380800G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1111-1G>T	12.37:g.122380800G>T						WDR66_ENST00000397454.2_Splice_Site		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	7	1964	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)							C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Splice_Site	SNP	ENST00000288912.4	37		CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779734	0.31502	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR66	120865183	1.000000	0.71417	0.967000	0.41034	0.144000	0.21451	6.434000	0.73408	2.316000	0.78162	0.557000	0.71058	.		0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	Intron	48	244	1	0	9.52127e-25	1	1.09014e-24	48	244					T	122380800	G	T	122380800	5	4	79	1	0	0	0	0	0	0	1	0	17371	956	33	3	1132	3	WDR66	12	122380800	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43051	122380800	11471095	13874	24191											
BCL7A	605	broad.mit.edu	37	chr12	122497016	122497016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttggaaggagtgccaCcctctaaaaagatgaaactg	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122497016C>T	ENST00000261822.4	+	6	786	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCL7A_ENST00000538010.1_Missense_Mutation_p.P215S	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	194					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGGAGTGCCACCCTCTAAAAA	0.512			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)	ENST00000538010.1				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(643-645)Ccc>Tcc		B-cell CLL/lymphoma 7A							83	79	80					12																	122497016		2203	4300	6503	SO:0001583	missense	605				negative regulation of transcription, DNA-dependent			g.chr12:122497016C>T	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.580C>T	12.37:g.122497016C>T	ENSP00000261822:p.Pro194Ser					BCL7A_ENST00000261822.4_Missense_Mutation_p.P194S	p.P215S	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	6	3313	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		194					B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	c.643C>T	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045087	0.75846	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.65549	-0.16;0.71	5.47	5.47	0.80525	.	0.263731	0.38111	N	0.001805	T	0.66963	0.2843	L	0.29908	0.895	0.54753	D	0.99998	P;D	0.56746	0.914;0.977	B;P	0.55923	0.406;0.787	T	0.70733	-0.4791	10	0.87932	D	0	.	19.3196	0.94233	0.0:1.0:0.0:0.0	.	194;215	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	S	215;194	ENSP00000445868:P215S;ENSP00000261822:P194S	ENSP00000261822:P194S	P	+	1	0	BCL7A	120981399	0.999000	0.42202	0.950000	0.38849	0.663000	0.39108	5.296000	0.65698	2.549000	0.85964	0.655000	0.94253	CCC		0.512	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			8	264	0	0	0	1	0	8	264					T	122497016	C	T	122497016	3	4	79	1	0	0	0	0	1	0	0	0	1379	507	18	2	665	2	BCL7A	12	122497016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116216	122497016	11354879	13875	24192											
MLXIP	22877	broad.mit.edu	37	chr12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccggcctccccagccaCggttaacttttgtgcacccc	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W|MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCCAGCCACGGTTAACTTT	0.612																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1603-1605)Cgg>Tgg		MLX interacting protein							23	27	26					12																	122618405		1982	4159	6141	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618405C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1603C>T	12.37:g.122618405C>T	ENSP00000312834:p.Arg535Trp					MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W|MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W	p.R535W			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1735	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	535						Missense_Mutation	SNP	ENST00000319080.7	37	c.1603C>T		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717397	0.48622	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.81415	-1.49;-1.49;-1.49	5.09	2.06	0.26882	.	0.532223	0.19799	N	0.105790	T	0.78723	0.4328	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.50708	0.648;0.513	T	0.67987	-0.5528	9	0.38643	T	0.18	0.314	8.0807	0.30744	0.0:0.7134:0.0:0.2866	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	535;142;142;125	ENSP00000312834:R535W;ENSP00000440769:R142W;ENSP00000366236:R125W	ENSP00000312834:R535W	R	+	1	2	MLXIP	121184358	0.000000	0.05858	0.053000	0.19242	0.991000	0.79684	0.859000	0.27858	0.098000	0.17522	0.655000	0.94253	CGG		0.612	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		11	99	0	0	0	1	0	11	99					T	122618405	C	T	122618405	3	4	79	1	0	0	0	0	1	0	0	0	9677	527	19	1	1637	1	MLXIP	12	122618405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121389	122618405	11233490	13876	24193											
MLXIP	22877	broad.mit.edu	37	chr12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggggtcccggagttcCacagcagcatcctggtgaca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGGAGTTCCACAGCAGCAT	0.652																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1876-1878)Cac>Aac		MLX interacting protein							19	24	22					12																	122620057		2026	4188	6214	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620057C>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1876C>A	12.37:g.122620057C>A	ENSP00000312834:p.His626Asn					MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N|MLXIP_ENST00000535996.1_3'UTR	p.H626N			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2008	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	626						Missense_Mutation	SNP	ENST00000319080.7	37	c.1876C>A		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331774	0.60853	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	T;T;T	0.46451	2.51;1.85;0.87	5.16	5.16	0.70880	.	0.822880	0.11534	N	0.554380	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.23419	0.046	T	0.14559	-1.0468	9	0.12766	T	0.61	-13.6986	18.6435	0.91402	0.0:1.0:0.0:0.0	.	626	Q9HAP2	MLXIP_HUMAN	N	626;233;233;97	ENSP00000312834:H626N;ENSP00000440769:H233N;ENSP00000445891:H97N	ENSP00000312834:H626N	H	+	1	0	MLXIP	121186010	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.649000	0.61433	2.395000	0.81488	0.455000	0.32223	CAC		0.652	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		14	75	1	0	8.60227e-14	1	9.30909e-14	14	75					A	122620057	C	A	122620057	3	1	79	1	0	0	0	0	1	0	0	0	9677	594	21	3	1918	3	MLXIP	12	122620057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1652	122620057	11231838	13877	24194											
MLXIP	22877	broad.mit.edu	37	chr12	122620104	122620104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggcacgagcagcccGcctgcccccgtctcccggct	12	20	1	0	rs369340273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGAGCAGCCCGCCTGCCCCCG	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1921-1923)ccG>ccA		MLX interacting protein		G		2,3986		0,2,1992	15	20	18		1513	1.6	0.9	12		18	0,8332		0,0,4166	no	coding-synonymous	MLXIP	NM_014938.3		0,2,6158	AA,AG,GG		0.0,0.0502,0.0162		641/920	122620104	2,12318	1994	4166	6160	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620104G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1923G>A	12.37:g.122620104G>A						MLXIP_ENST00000538698.1_Silent_p.P248P	p.P641P			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2055	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	641						Silent	SNP	ENST00000319080.7	37	c.1923G>A																																																																																					0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		17	59	0	0	0	1	0	17	59					A	122620104	G	A	122620104	2	1	79	1	0	0	0	0	0	0	0	1	9677	1074	38	1		1	MLXIP	12	122620104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	122620104	11231791	13878	24195											
MLXIP	22877	broad.mit.edu	37	chr12	122622746	122622746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttctccagcagaaccgGcagatgaagcacatctcagc	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCAGAACCGGCAGATGAAGC	0.552																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2158-2160)cgG>cgA		MLX interacting protein							29	31	30					12																	122622746		2175	4270	6445	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122622746G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2160G>A	12.37:g.122622746G>A						MLXIP_ENST00000538698.1_Silent_p.R327R	p.R720R			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	13	2292	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	720						Silent	SNP	ENST00000319080.7	37	c.2160G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329769	0.24167	.	.	ENSG00000175727	ENST00000542417	.	.	.	4.4	2.52	0.30459	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-16.2681	4.6094	0.12395	0.2854:0.1654:0.5492:0.0	.	.	.	.	D	56	.	.	G	+	2	0	MLXIP	121188699	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.251000	0.18257	0.835000	0.34877	0.561000	0.74099	GGC		0.552	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		13	51	0	0	0	1	0	13	51					A	122622746	G	A	122622746	2	1	79	1	0	0	0	0	0	0	0	1	9677	1190	42	2		2	MLXIP	12	122622746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	122622746	11229149	13879	24196											
LRRC43	254050	broad.mit.edu	37	chr12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcctggtccgcagccGccactccccctgggctctgc	13	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	91								p.R91H(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCAGCCGCCACTCCCCC	0.607																																						ENST00000339777.4																			1	Substitution - Missense(1)	p.R91H(1)	breast(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(271-273)cGc>cAc		leucine rich repeat containing 43							38	42	41					12																	122669187		1948	4134	6082	SO:0001583	missense	254050							g.chr12:122669187G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.272G>A	12.37:g.122669187G>A	ENSP00000344233:p.Arg91His					LRRC43_ENST00000425921.1_5'UTR	p.R91H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	300	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		91					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.272G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907017	0.52333	.	.	ENSG00000158113	ENST00000339777	T	0.55588	0.51	4.94	0.924	0.19418	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.58432	D	0.999993	B	0.33807	0.426	B	0.11329	0.006	T	0.03981	-1.0987	9	0.52906	T	0.07	-2.3834	5.9409	0.19192	0.1277:0.4215:0.3783:0.0725	.	91	Q8N309	LRC43_HUMAN	H	91	ENSP00000344233:R91H	ENSP00000344233:R91H	R	+	2	0	LRRC43	121235140	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.107000	0.10873	0.125000	0.18397	-0.384000	0.06662	CGC		0.607	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		11	169	0	0	0	1	0	11	169					A	122669187	G	A	122669187	3	1	79	1	0	0	0	0	1	0	0	0	9039	1087	38	1	278	1	LRRC43	12	122669187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46441	122669187	11182708	13880	24197											
LRRC43	254050	broad.mit.edu	37	chr12	122677357	122677357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagaggtcgtggaagaCgtcatcgaagacattgttga	13	7	1	5	rs184792850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	385	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGTGGAAGACGTCATCGAAG	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0					ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1153-1155)gaC>gaT		leucine rich repeat containing 43							114	114	114					12																	122677357		2032	4205	6237	SO:0001819	synonymous_variant	254050							g.chr12:122677357C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1155C>T	12.37:g.122677357C>T						LRRC43_ENST00000425921.1_Silent_p.D200D	p.D385D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	1183	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		385			Glu-rich.		Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.1155C>T	CCDS45001.1																																																																																				0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		68	272	0	0	0	1	0	68	272					T	122677357	C	T	122677357	2	4	79	1	0	0	0	0	0	0	0	1	9039	535	19	1		1	LRRC43	12	122677357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	122677357	11174538	13881	24198											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122685346delC	ENST00000339777.4	+	10	1702	c.1674delC	c.(1672-1674)gacfs	p.D558fs	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCGGCAGGACCCCCCCATCC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1672-1674)gafs		leucine rich repeat containing 43							29	37	34					12																	122685346		1895	4092	5987	SO:0001589	frameshift_variant	254050							g.chr12:122685346delC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1674delC	12.37:g.122685346delC	ENSP00000344233:p.Asp558fs					LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs	p.D558fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1702	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		558					Q6ZVT9	Frame_Shift_Del	DEL	ENST00000339777.4	37	c.1674delC	CCDS45001.1																																																																																				0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	475						16	475	---	---	---	---	-	122685346	C	-	122685346	7	5	79	1	0	1	0	1	0	0	0	0	9039	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	7989	122685346	11166549	13882	24199											
B3GNT4	79369	broad.mit.edu	37	chr12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagctgcacctgcagcGctgggtggtggctgcctgcc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000324189.4	+	3	961	c.605G>A	c.(604-606)cGc>cAc	p.R202H	B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_Missense_Mutation_p.R177H	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	202					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(529-531)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							45	48	47					12																	122691403		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691403G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.605G>A	12.37:g.122691403G>A	ENSP00000319636:p.Arg202His					B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.R202H	p.R177H			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2257	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		202					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.530G>A	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174716	0.78452	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.04	0.47022	.	0.000000	0.50627	D	0.000104	T	0.60327	0.2260	M	0.67517	2.055	0.35791	D	0.822427	D	0.89917	1.0	D	0.71414	0.973	T	0.71876	-0.4460	10	0.72032	D	0.01	.	12.8768	0.57994	0.0799:0.0:0.9201:0.0	.	202	Q9C0J1	B3GN4_HUMAN	H	202;177;177	ENSP00000319636:R202H;ENSP00000438840:R177H;ENSP00000444534:R177H	ENSP00000319636:R202H	R	+	2	0	B3GNT4	121257356	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.880000	0.63107	1.201000	0.43203	0.655000	0.94253	CGC		0.567	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		59	318	0	0	0	1	0	59	318					A	122691403	G	A	122691403	3	1	79	1	0	0	0	0	1	0	0	0	1260	1087	38	1	611	1	B3GNT4	12	122691403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6057	122691403	11160492	13883	24200											
CLIP1	6249	broad.mit.edu	37	chr12	122825825	122825825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctttgctgaaagatacCttcagttcttccatcgcctg	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122825825C>T	ENST00000540338.1	-	10	1967	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000358808.2_Silent_p.K631K|CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000361654.4_Silent_p.K596K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	642					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)			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)		TGAAAGATACCTTCAGTTCTT	0.438																																						ENST00000358808.2																			0				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						c.(1891-1893)aaG>aaA		CAP-GLY domain containing linker protein 1							144	139	140					12																	122825825		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825825C>T		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.1926G>A	12.37:g.122825825C>T						CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000540338.1_Silent_p.K642K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000361654.4_Silent_p.K596K	p.K631K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2047	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		642					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1893G>A	CCDS58285.1																																																																																				0.438	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		24	695	0	0	0	1	0	24	695					T	122825825	C	T	122825825	2	4	79	1	0	0	0	0	0	0	0	1	3541	680	24	2		2	CLIP1	12	122825825	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134422	122825825	11026070	13884	24201											
CLIP1	6249	broad.mit.edu	37	chr12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctccttcagagaagTtatttctctctggtggtcag	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000540338.1	-	10	1752	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	571					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)			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)		TTCAGAGAAGTTATTTCTCTC	0.468																																						ENST00000358808.2																			0				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						c.(1678-1680)Act>Cct		CAP-GLY domain containing linker protein 1							177	193	188					12																	122826040		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.chr12:122826040T>G		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.1711A>C	12.37:g.122826040T>G	ENSP00000439093:p.Thr571Pro					CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000540338.1_Missense_Mutation_p.T571P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P	p.T560P	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1832	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		571					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1678A>C	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263802	0.23136	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61859	2.7;0.66;0.66;0.68;0.68;0.07	5.25	-1.35	0.09114	.	0.997403	0.08131	N	0.993246	T	0.47563	0.1452	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.21905	0.062;0.039;0.039;0.023	B;B;B;B	0.29598	0.059;0.104;0.104;0.048	T	0.42982	-0.9419	10	0.31617	T	0.26	0.3462	10.5726	0.45209	0.0:0.4574:0.0:0.5426	.	261;525;560;571	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	261;560;560;405;525;571;494	ENSP00000438743:T261P;ENSP00000303585:T560P;ENSP00000351665:T560P;ENSP00000445531:T525P;ENSP00000439093:T571P;ENSP00000437786:T494P	ENSP00000303585:T560P	T	-	1	0	CLIP1	121391993	0.000000	0.05858	0.118000	0.21660	0.909000	0.53808	-0.323000	0.07997	-0.413000	0.07507	-0.379000	0.06801	ACT		0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		321	1297	0	0	0	1	0	321	1297					G	122826040	T	G	122826040	3	3	79	1	0	0	0	0	1	0	0	0	3541	1725	60	4	2669	4	CLIP1	12	122826040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	215	122826040	11025855	13885	24202											
CLIP1	6249	broad.mit.edu	37	chr12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctcatctaactccacgCcacaccactcccccttggca	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000540338.1	-	3	769	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	243	CAP-Gly 2. {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)			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)		TAACTCCACGCCACACCACTC	0.502																																						ENST00000358808.2																			0				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						c.(727-729)gGc>gAc		CAP-GLY domain containing linker protein 1							182	117	139					12																	122848584		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.chr12:122848584C>T		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.728G>A	12.37:g.122848584C>T	ENSP00000439093:p.Gly243Asp					CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000540338.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D	p.G243D	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	4	882	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		243			CAP-Gly 2.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.728G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350966	0.95830	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.98883	4.36	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	0.96244	0.9178	10	0.87932	D	0	-13.7061	20.0812	0.97776	0.0:1.0:0.0:0.0	.	243;243;243;243	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	D	243;243;88;243;243;243;243	ENSP00000303585:G243D;ENSP00000351665:G243D;ENSP00000445531:G243D;ENSP00000439093:G243D;ENSP00000437786:G243D;ENSP00000441409:G243D	ENSP00000303585:G243D	G	-	2	0	CLIP1	121414537	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.664000	0.83830	2.752000	0.94435	0.557000	0.71058	GGC		0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		14	197	0	0	0	1	0	14	197					T	122848584	C	T	122848584	3	4	79	1	0	0	0	0	1	0	0	0	3541	739	26	2	3643	2	CLIP1	12	122848584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22544	122848584	11003311	13886	24203											
CLIP1	6249	broad.mit.edu	37	chr12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcgggtaaatatgcCctttaaaggttcacactgga	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000540338.1	-	2	387	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	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)			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)		GTAAATATGCCCTTTAAAGGT	0.507																																						ENST00000358808.2																			0				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						c.(346-348)Ggc>Agc		CAP-GLY domain containing linker protein 1							112	102	105					12																	122862247		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.chr12:122862247C>T		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.346G>A	12.37:g.122862247C>T	ENSP00000439093:p.Gly116Ser					CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000540338.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S	p.G116S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	500	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		116			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.346G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823363	0.96989	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.99794	4.785	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	0.99023	1.0818	10	0.87932	D	0	-16.0398	20.0912	0.97820	0.0:1.0:0.0:0.0	.	116;116;116;116	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	S	116	ENSP00000303585:G116S;ENSP00000351665:G116S;ENSP00000445531:G116S;ENSP00000439093:G116S;ENSP00000437786:G116S;ENSP00000441409:G116S	ENSP00000303585:G116S	G	-	1	0	CLIP1	121428200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.696000	0.84270	2.746000	0.94184	0.591000	0.81541	GGC		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		116	427	0	0	0	1	0	116	427					T	122862247	C	T	122862247	3	4	79	1	0	0	0	0	1	0	0	0	3541	623	22	2	4029	2	CLIP1	12	122862247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13663	122862247	10989648	13887	24204											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtcactgggagtcagcGgcggggtgccctttgggagt	19	8	2	1	rs111823200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000336229.4	-	14	1611	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	494	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGGAGTCAGCGGCGGGGTGCC	0.577													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17002	0.0		0.0	False		,,,				2504	0.0					ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(766-768)cCg>cTg		zinc finger, CCHC domain containing 8		G	LEU/PRO	31,4269		1,29,2120	51	59	56		1481	5.1	0.1	12	dbSNP_132	56	0,8542		0,0,4271	yes	missense	ZCCHC8	NM_017612.3	98	1,29,6391	AA,AG,GG		0.0,0.7209,0.2414	probably-damaging	494/708	122958687	31,12811	2150	4271	6421	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958687G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1481C>T	12.37:g.122958687G>A	ENSP00000337313:p.Pro494Leu					ZCCHC8_ENST00000336229.4_Missense_Mutation_p.P494L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L	p.P256L			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3122	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		494					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.767C>T		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	24.5	4.536879	0.85812	0.007209	0.0	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.57436	0.73;0.73;0.7;0.4	5.96	5.07	0.68467	.	0.047509	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.54754	-0.8246	10	0.66056	D	0.02	-8.9204	15.2854	0.73826	0.0671:0.0:0.9328:0.0	.	494	Q6NZY4	ZCHC8_HUMAN	L	256;256;494;105;105	ENSP00000441423:P256L;ENSP00000438993:P256L;ENSP00000337313:P494L;ENSP00000440028:P105L	ENSP00000337313:P494L	P	-	2	0	ZCCHC8	121524640	1.000000	0.71417	0.090000	0.20809	0.751000	0.42716	6.898000	0.75676	1.531000	0.49152	0.650000	0.86243	CCG		0.577	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		74	300	0	0	0	1	0	74	300					A	122958687	G	A	122958687	3	1	79	1	0	0	0	0	1	0	0	0	17647	1116	39	1	646	1	ZCCHC8	12	122958687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96440	122958687	10893208	13888	24205											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958719	122958719	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgggagtggaggggtgaaGacgggtggaggagttccccg	21	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000336229.4	-	14	1579	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	ZCCHC8_ENST00000543897.1_Silent_p.V245V|ZCCHC8_ENST00000536306.1_Silent_p.V245V|ZCCHC8_ENST00000538116.1_Silent_p.V94V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(733-735)gtC>gtT		zinc finger, CCHC domain containing 8							50	57	55					12																	122958719		2100	4229	6329	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958719G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1449C>T	12.37:g.122958719G>A						ZCCHC8_ENST00000336229.4_Silent_p.V483V|ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000536306.1_Silent_p.V245V	p.V245V			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3090	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		483					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.735C>T																																																																																					0.587	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		65	281	0	0	0	1	0	65	281					A	122958719	G	A	122958719	2	1	79	1	0	0	0	0	0	0	0	1	17647	929	33	2		2	ZCCHC8	12	122958719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	122958719	10893176	13889	24206											
ZCCHC8	55596	broad.mit.edu	37	chr12	122962754	122962754	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttaaaatctatttaccGcttggaagttagaagtaagg	8	7	1	1	rs201799696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000336229.4	-	12	1356	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	ZCCHC8_ENST00000543897.1_Splice_Site_p.A171V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V|ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	409					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTATTTACCGCTTGGAAGTT	0.378																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.e10+1		zinc finger, CCHC domain containing 8		G	VAL/ALA	0,3778		0,0,1889	61	55	57		1226	2	0.6	12		57	1,8221		0,1,4110	yes	missense-near-splice	ZCCHC8	NM_017612.3	64	0,1,5999	AA,AG,GG		0.0122,0.0,0.0083	benign	409/708	122962754	1,11999	1889	4111	6000	SO:0001630	splice_region_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122962754G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1227+1C>T	12.37:g.122962754G>A						ZCCHC8_ENST00000336229.4_Splice_Site_p.A409_splice|ZCCHC8_ENST00000538116.1_Splice_Site_p.A20_splice|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171_splice	p.A171_splice			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	10	2867	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		409					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Splice_Site	SNP	ENST00000336229.4	37	c.513_splice		.	.	.	.	.	.	.	.	.	.	G	13.91	2.376856	0.42105	0.0	1.22E-4	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.46451	0.89;0.89;0.87;0.93	5.81	2.05	0.26809	.	0.932856	0.09295	N	0.821737	T	0.29458	0.0734	L	0.29908	0.895	0.39455	D	0.967477	B	0.06786	0.001	B	0.04013	0.001	T	0.06679	-1.0813	10	0.36615	T	0.2	0.1657	6.4821	0.22069	0.255:0.0:0.6284:0.1166	.	409	Q6NZY4	ZCHC8_HUMAN	V	171;171;409;20;20;171;171	ENSP00000441423:A171V;ENSP00000438993:A171V;ENSP00000337313:A409V;ENSP00000440028:A20V	ENSP00000337313:A409V	A	-	2	0	ZCCHC8	121528707	0.110000	0.22057	0.637000	0.29366	0.883000	0.51084	0.314000	0.19432	0.121000	0.18284	0.555000	0.69702	GCG		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	Missense_Mutation	11	31	0	0	0	1	0	11	31					A	122962754	G	A	122962754	5	1	79	1	0	0	0	0	0	0	1	0	17647	1101	38	1	909	1	ZCCHC8	12	122962754	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4035	122962754	10889141	13890	24207											
KNTC1	9735	broad.mit.edu	37	chr12	123026646	123026646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggatttttttgtattacAaaccttcagcttttaaaaat	5	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	ENST00000333479.7	+	6	672	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_ENST00000450485.2_Silent_p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	165					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGTATTACAAACCTTCAGC	0.239																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(493-495)acA>acG		kinetochore associated 1							35	34	34					12																	123026646		1779	4053	5832	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123026646A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.495A>G	12.37:g.123026646A>G						KNTC1_ENST00000450485.2_Silent_p.T165T	p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	6	672	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		165					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.495A>G	CCDS45002.1																																																																																				0.239	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	34	0	0	0	1	0	5	34					G	123026646	A	G	123026646	2	3	79	1	0	0	0	0	0	0	0	1	8458	117	5	4		4	KNTC1	12	123026646	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63892	123026646	10825249	13891	24208											
KNTC1	9735	broad.mit.edu	37	chr12	123072361	123072361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagatttgtggttggttcAtttggtacctgtcttcagca	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000333479.7	+	39	4011	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTTGGTTCATTTGGTACCT	0.418																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3832-3834)tcA>tcG		kinetochore associated 1							138	123	127					12																	123072361		1871	4121	5992	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123072361A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3834A>G	12.37:g.123072361A>G						KNTC1_ENST00000450485.2_Intron	p.S1278S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	39	4011	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1278					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3834A>G	CCDS45002.1																																																																																				0.418	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			26	143	0	0	0	1	0	26	143					G	123072361	A	G	123072361	2	3	79	1	0	0	0	0	0	0	0	1	8458	204	8	4		4	KNTC1	12	123072361	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45715	123072361	10779534	13892	24209											
KNTC1	9735	broad.mit.edu	37	chr12	123082326	123082326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagctcttcattgaaacGctgctccacaacacaaatgc	5	14	3	1	rs548835839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000333479.7	+	44	4581	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1468					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCATTGAAACGCTGCTCCACA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17502	0.001		0.0	False		,,,				2504	0.0					ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4402-4404)acG>acA		kinetochore associated 1							97	95	96					12																	123082326		2048	4209	6257	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123082326G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4404G>A	12.37:g.123082326G>A						KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	p.T1468T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	44	4581	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1468					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4404G>A	CCDS45002.1																																																																																				0.512	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			79	288	0	0	0	1	0	79	288					A	123082326	G	A	123082326	2	1	79	1	0	0	0	0	0	0	0	1	8458	1074	38	1		1	KNTC1	12	123082326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9965	123082326	10769569	13893	24210											
GPR109A	338442	broad.mit.edu	37	chr12	123186899	123186899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctctggaggcagCggttgatcaaagtggagaag	13	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123186899C>T	ENST00000328880.5	-	1	991	c.932G>A	c.(931-933)cGc>cAc	p.R311H	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	311			R -> C (in dbSNP:rs7314976). {ECO:0000269|Ref.4}.		negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.552																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(931-933)cGc>cAc		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						131	105	114					12																	123186899		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186899C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.932G>A	12.37:g.123186899C>T	ENSP00000375066:p.Arg311His					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.R311H	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	991	-			311		R -> C (in dbSNP:rs7314976).			A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.932G>A	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554667	0.65425	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.39592	1.07	5.18	3.35	0.38373	.	0.391930	0.23183	U	0.050997	T	0.50701	0.1631	M	0.64404	1.975	0.30341	N	0.785752	D	0.89917	1.0	P	0.59288	0.855	T	0.49799	-0.8901	10	0.15066	T	0.55	-28.1761	10.4766	0.44667	0.0:0.8381:0.0:0.1619	.	311	Q8TDS4	HCAR2_HUMAN	H	311	ENSP00000375066:R311H	ENSP00000375066:R311H	R	-	2	0	HCAR2	121752852	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	1.305000	0.33493	0.836000	0.34901	0.563000	0.77884	CGC		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		81	356	0	0	0	1	0	81	356					T	123186899	C	T	123186899	3	4	79	1	0	0	0	0	1	0	0	0	6654	768	27	1	163	1	GPR109A	12	123186899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104573	123186899	10664996	13894	24211											
GPR109A	338442	broad.mit.edu	37	chr12	123187521	123187521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatagccaacatgaagaGcatcagccggcaagggatgt	12	9	2	2	rs370020427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123187521G>A	ENST00000328880.5	-	1	369	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	104					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AACATGAAGAGCATCAGCCGG	0.562																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(310-312)Ctc>Ttc		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						100	87	91					12																	123187521		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187521G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.310C>T	12.37:g.123187521G>A	ENSP00000375066:p.Leu104Phe					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.L104F	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	369	-			104					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.310C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107105	0.77096	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38722	1.12	5.65	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.56140	0.1965	M	0.67953	2.075	0.35664	D	0.812774	D	0.64830	0.994	D	0.71870	0.975	T	0.60999	-0.7151	10	0.09084	T	0.74	-29.4403	12.3652	0.55224	0.0802:0.0:0.9198:0.0	.	104	Q8TDS4	HCAR2_HUMAN	F	104	ENSP00000375066:L104F	ENSP00000375066:L104F	L	-	1	0	HCAR2	121753474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.555000	0.60767	1.632000	0.50472	0.655000	0.94253	CTC		0.562	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		77	292	0	0	0	1	0	77	292					A	123187521	G	A	123187521	3	1	79	1	0	0	0	0	1	0	0	0	6654	971	34	2	785	2	GPR109A	12	123187521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	622	123187521	10664374	13895	24212											
GPR81	27198	broad.mit.edu	37	chr12	123214777	123214777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagcagaaaccacacAgggcgaccccattgcctagt	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123214777A>G	ENST00000436083.2	-	1	613	c.110T>C	c.(109-111)cTg>cCg	p.L37P	HCAR1_ENST00000432564.1_Missense_Mutation_p.L37P|HCAR1_ENST00000356987.2_Missense_Mutation_p.L37P			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	37					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GAAACCACACAGGGCGACCCC	0.572																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(109-111)cTg>cCg		hydroxycarboxylic acid receptor 1							83	70	75					12																	123214777		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214777A>G	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.110T>C	12.37:g.123214777A>G	ENSP00000409980:p.Leu37Pro					HCAR1_ENST00000436083.2_Missense_Mutation_p.L37P|HCAR1_ENST00000356987.2_Missense_Mutation_p.L37P	p.L37P	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	352	-			37					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.110T>C	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050810	0.75960	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.75938	-0.98;-0.98;-0.98	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	D	0.89008	0.6593	M	0.94142	3.5	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.91773	0.5429	10	0.87932	D	0	-9.4957	13.1691	0.59587	1.0:0.0:0.0:0.0	.	37	Q9BXC0	HCAR1_HUMAN	P	37	ENSP00000349478:L37P;ENSP00000389255:L37P;ENSP00000409980:L37P	ENSP00000349478:L37P	L	-	2	0	HCAR1	121780730	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.071000	0.93980	2.003000	0.58678	0.460000	0.39030	CTG		0.572	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			5	175	0	0	0	1	0	5	175					G	123214777	A	G	123214777	3	3	79	1	0	0	0	0	1	0	0	0	6740	188	7	4	934	4	GPR81	12	123214777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27256	123214777	10637118	13896	24213											
CCDC62	84660	broad.mit.edu	37	chr12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaactacataaaagaActgaaataatcaggtcactc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	83					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(247-249)Act>Gct		coiled-coil domain containing 62							88	82	84					12																	123265728		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123265728A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.247A>G	12.37:g.123265728A>G	ENSP00000253079:p.Thr83Ala					CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000537566.1_5'UTR	p.T83A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	3	591	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		83					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.247A>G	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236661	0.58886	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.30714	1.52;1.52	5.5	4.33	0.51752	.	0.307141	0.28499	N	0.015125	T	0.21801	0.0525	L	0.41236	1.265	0.80722	D	1	B;P	0.37207	0.4;0.587	B;B	0.36464	0.173;0.225	T	0.02603	-1.1135	10	0.09084	T	0.74	-10.1062	9.9655	0.41721	0.8481:0.0:0.0:0.1519	.	83;83	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	A	83	ENSP00000253079:T83A;ENSP00000376236:T83A	ENSP00000253079:T83A	T	+	1	0	CCDC62	121831681	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.664000	0.61540	0.891000	0.36235	0.528000	0.53228	ACT		0.373	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		59	262	0	0	0	1	0	59	262					G	123265728	A	G	123265728	3	3	79	1	0	0	0	0	1	0	0	0	2840	43	2	4	257	4	CCDC62	12	123265728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50951	123265728	10586167	13897	24214											
CCDC62	84660	broad.mit.edu	37	chr12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcacactgctgcccAtcagccatgagaatctcact	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	656					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1966-1968)Atc>Gtc		coiled-coil domain containing 62							110	95	100					12																	123297931		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123297931A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1966A>G	12.37:g.123297931A>G	ENSP00000253079:p.Ile656Val					CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V	p.I656V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	11	2310	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		656					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.1966A>G	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870432	0.33069	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.45668	1.47;1.47;0.89;0.89	5.56	-2.86	0.05717	.	0.529195	0.17425	N	0.174662	T	0.26448	0.0646	L	0.31926	0.97	0.25412	N	0.988349	B;B;B	0.15930	0.01;0.015;0.008	B;B;B	0.19946	0.02;0.027;0.019	T	0.16660	-1.0395	10	0.38643	T	0.18	-2.8178	8.1127	0.30924	0.3161:0.5281:0.1558:0.0	.	656;417;656	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	V	656;656;417;417	ENSP00000253079:I656V;ENSP00000376236:I656V;ENSP00000445045:I417V;ENSP00000376235:I417V	ENSP00000253079:I656V	I	+	1	0	CCDC62	121863884	0.909000	0.30893	0.904000	0.35570	0.697000	0.40408	0.254000	0.18314	-0.376000	0.07943	0.528000	0.53228	ATC		0.517	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		65	280	0	0	0	1	0	65	280					G	123297931	A	G	123297931	3	3	79	1	0	0	0	0	1	0	0	0	2840	217	8	4	2008	4	CCDC62	12	123297931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32203	123297931	10553964	13898	24215											
HIP1R	9026	broad.mit.edu	37	chr12	123339642	123339642	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctccgacatgctgtacttCaagcggctcatccagatccc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	273					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(817-819)ttC>ttT		huntingtin interacting protein 1 related							88	96	94					12																	123339642		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123339642C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.819C>T	12.37:g.123339642C>T							p.F273F	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	10	944	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		273					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.819C>T	CCDS31922.1																																																																																				0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		168	614	0	0	0	1	0	168	614					T	123339642	C	T	123339642	2	4	79	1	0	0	0	0	0	0	0	1	7145	825	29	2		2	HIP1R	12	123339642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41711	123339642	10512253	13899	24216											
VPS37B	79720	broad.mit.edu	37	chr12	123351959	123351959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagggtagggaagggGggcggtaggtgccagttcgg	24	5	0	0	rs559161851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123351959G>A	ENST00000267202.2	-	4	943	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	188	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TAGGGAAGGGGGGCGGTAGGT	0.701																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(562-564)Ccc>Tcc		vacuolar protein sorting 37 homolog B (S. cerevisiae)							29	35	33					12																	123351959		2200	4290	6490	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351959G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.562C>T	12.37:g.123351959G>A	ENSP00000267202:p.Pro188Ser						p.P188S	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	943	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		188			Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.562C>T	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344724	0.11126	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.59364	0.27;0.3	5.33	-6.21	0.02065	.	0.673292	0.14633	N	0.307669	T	0.42653	0.1212	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.40728	T	0.16	-3.6739	5.8472	0.18673	0.1619:0.4145:0.3326:0.091	.	188	Q9H9H4	VP37B_HUMAN	S	188;186	ENSP00000267202:P188S;ENSP00000446075:P186S	ENSP00000267202:P188S	P	-	1	0	VPS37B	121917912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.946000	0.03677	-0.176000	0.13171	CCC		0.701	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		14	405	0	0	0	1	0	14	405					A	123351959	G	A	123351959	3	1	79	1	0	0	0	0	1	0	0	0	17260	1232	43	2	299	2	VPS37B	12	123351959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12317	123351959	10499936	13900	24217											
VPS37B	79720	broad.mit.edu	37	chr12	123352062	123352062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcttctcgattttcacCcgtcgcatgtgggccagttt	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	153	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(457-459)cgG>cgA		vacuolar protein sorting 37 homolog B (S. cerevisiae)							122	127	125					12																	123352062		2203	4300	6503	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123352062C>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.459G>A	12.37:g.123352062C>T							p.R153R	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	840	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		153			Interaction with IST1.|VPS37 C-terminal.			Silent	SNP	ENST00000267202.2	37	c.459G>A	CCDS9239.1																																																																																				0.562	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		144	874	0	0	0	1	0	144	874					T	123352062	C	T	123352062	2	4	79	1	0	0	0	0	0	0	0	1	17260	610	22	2		2	VPS37B	12	123352062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	123352062	10499833	13901	24218											
OGFOD2	79676	broad.mit.edu	37	chr12	123463318	123463318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctgcacgagctcGggctggacgagccgctgatg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463318G>A	ENST00000228922.7	+	6	582	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G124R|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	184							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCACGAGCTCGGGCTGGACGA	0.662																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(370-372)Ggg>Agg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						12	15	14					12																	123463318		2044	4189	6233	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463318G>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.550G>A	12.37:g.123463318G>A	ENSP00000228922:p.Gly184Arg					OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G184R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR	p.G124R	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1109	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		184					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.370G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.979597	0.74360	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89196	-2.48;0.99	5.42	5.42	0.78866	Prolyl 4-hydroxylase, alpha subunit (1);	0.043908	0.85682	D	0.000000	D	0.95204	0.8445	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95366	0.8460	10	0.62326	D	0.03	-34.5298	19.2243	0.93812	0.0:0.0:1.0:0.0	.	184;124	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	124;20;20;20;20;20;20;20;184;20	ENSP00000380544:G124R;ENSP00000228922:G184R	ENSP00000228922:G184R	G	+	1	0	OGFOD2	122029271	1.000000	0.71417	0.927000	0.36925	0.189000	0.23516	8.018000	0.88722	2.539000	0.85634	0.561000	0.74099	GGG		0.662	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		7	156	0	0	0	1	0	7	156					A	123463318	G	A	123463318	3	1	79	1	0	0	0	0	1	0	0	0	10884	1116	39	1	388	1	OGFOD2	12	123463318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111256	123463318	10388577	13902	24219											
OGFOD2	79676	broad.mit.edu	37	chr12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgctgatggccctgCtgtaccctgactgtggcggg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000228922.7	+	6	645	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	205							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(433-435)Ctg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						14	19	17					12																	123463381		2093	4216	6309	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463381C>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.613C>A	12.37:g.123463381C>A	ENSP00000228922:p.Leu205Met					OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L205M|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR	p.L145M	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1172	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		205					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.433C>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399435	0.83120	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89415	-2.51;0.78	5.42	4.52	0.55395	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94865	0.8025	10	0.66056	D	0.02	-20.6502	14.5866	0.68328	0.0:0.9285:0.0:0.0715	.	205;145	Q6N063;Q6N063-2	OGFD2_HUMAN;.	M	145;41;41;41;41;41;41;41;205;41	ENSP00000380544:L145M;ENSP00000228922:L205M	ENSP00000228922:L205M	L	+	1	2	OGFOD2	122029334	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.083000	0.57643	1.253000	0.44018	0.561000	0.74099	CTG		0.667	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		26	136	1	0	6.00712e-18	1	6.65163e-18	26	136					A	123463381	C	A	123463381	3	1	79	1	0	0	0	0	1	0	0	0	10884	796	28	3	451	3	OGFOD2	12	123463381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	123463381	10388514	13903	24220											
OGFOD2	79676	broad.mit.edu	37	chr12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctgccactatgataAtgccgagctcaccctcaatg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000228922.7	+	6	745	c.713A>C	c.(712-714)aAt>aCt	p.N238T	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	238	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(532-534)aAt>aCt		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						26	32	30					12																	123463481		2034	4167	6201	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463481A>C	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.713A>C	12.37:g.123463481A>C	ENSP00000228922:p.Asn238Thr					OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.N238T|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR	p.N178T	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1272	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		238					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.533A>C		.	.	.	.	.	.	.	.	.	.	A	22.4	4.284205	0.80803	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.86366	-2.11;1.02	5.42	5.42	0.78866	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93291	0.6668	10	0.49607	T	0.09	-23.1009	15.4665	0.75406	1.0:0.0:0.0:0.0	.	238;178	Q6N063;Q6N063-2	OGFD2_HUMAN;.	T	178;74;74;74;74;74;74;74;238;74	ENSP00000380544:N178T;ENSP00000228922:N238T	ENSP00000228922:N238T	N	+	2	0	OGFOD2	122029434	1.000000	0.71417	0.194000	0.23346	0.775000	0.43874	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	AAT		0.632	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		51	198	0	0	0	1	0	51	198					C	123463481	A	C	123463481	3	2	79	1	0	0	0	0	1	0	0	0	10884	101	4	4	551	4	OGFOD2	12	123463481	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100	123463481	10388414	13904	24221											
PITPNM2	57605	broad.mit.edu	37	chr12	123481078	123481078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttactgtagcacaggGcatcaaatgccaggatgccc	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481078G>A	ENST00000542749.1	-	11	1772	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A570V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	570					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTAGCACAGGGCATCAAATGC	0.637																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1708-1710)gCc>gTc		phosphatidylinositol transfer protein, membrane-associated 2							36	36	36					12																	123481078		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481078G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1709C>T	12.37:g.123481078G>A	ENSP00000437611:p.Ala570Val					PITPNM2_ENST00000542749.1_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V	p.A570V			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		570					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1709C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204959	0.95033	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.83	4.83	0.62350	.	0.215214	0.38326	N	0.001722	T	0.51702	0.1690	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60026	-0.7343	10	0.72032	D	0.01	-33.0557	17.9298	0.88993	0.0:0.0:1.0:0.0	.	570;570	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	570;570;291;570	ENSP00000280562:A570V;ENSP00000322218:A570V;ENSP00000376223:A291V;ENSP00000437611:A570V	ENSP00000280562:A570V	A	-	2	0	PITPNM2	122047031	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.584000	0.98220	2.236000	0.73375	0.561000	0.74099	GCC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		15	323	0	0	0	1	0	15	323					A	123481078	G	A	123481078	3	1	79	1	0	0	0	0	1	0	0	0	11993	1203	42	2	2396	2	PITPNM2	12	123481078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17597	123481078	10370817	13905	24222											
PITPNM2	57605	broad.mit.edu	37	chr12	123481101	123481101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaatgccaggatgcccccGacgcagtccccaatcaggca	9	16	2	0	rs374549059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000542749.1	-	11	1749	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000280562.5_Silent_p.V562V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	562					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGATGCCCCCGACGCAGTCCC	0.642																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1684-1686)gtC>gtT		phosphatidylinositol transfer protein, membrane-associated 2							34	34	34					12																	123481101		2202	4299	6501	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481101G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1686C>T	12.37:g.123481101G>A						PITPNM2_ENST00000542749.1_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000320201.4_Silent_p.V562V	p.V562V			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1891	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		562					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1686C>T	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		16	333	0	0	0	1	0	16	333					A	123481101	G	A	123481101	2	1	79	1	0	0	0	0	0	0	0	1	11993	1045	37	1		1	PITPNM2	12	123481101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	123481101	10370794	13906	24223											
PITPNM2	57605	broad.mit.edu	37	chr12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaggggcaccctggcGgtacagaccatctgcaaaga	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000542749.1	-	8	1228	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R389C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	389					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1165-1167)Cgc>Tgc		phosphatidylinositol transfer protein, membrane-associated 2							51	48	49					12																	123485384		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123485384G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1165C>T	12.37:g.123485384G>A	ENSP00000437611:p.Arg389Cys					PITPNM2_ENST00000542749.1_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C	p.R389C			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	9	1370	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		389					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1165C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045374	0.36085	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	2.03;2.03;0.84;2.03	4.51	3.6	0.41247	.	0.826438	0.11094	N	0.600425	T	0.55513	0.1925	L	0.55213	1.73	0.31186	N	0.701536	B;P;P	0.52170	0.007;0.951;0.951	B;P;B	0.51229	0.002;0.663;0.326	T	0.60495	-0.7252	10	0.72032	D	0.01	-14.2141	13.851	0.63496	0.0:0.1552:0.8448:0.0	.	389;389;389	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	389;389;110;389	ENSP00000280562:R389C;ENSP00000322218:R389C;ENSP00000376223:R110C;ENSP00000437611:R389C	ENSP00000280562:R389C	R	-	1	0	PITPNM2	122051337	0.760000	0.28428	0.907000	0.35723	0.291000	0.27294	2.792000	0.47837	1.179000	0.42884	0.561000	0.74099	CGC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		33	155	0	0	0	1	0	33	155					A	123485384	G	A	123485384	3	1	79	1	0	0	0	0	1	0	0	0	11993	1116	39	1	2952	1	PITPNM2	12	123485384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4283	123485384	10366511	13907	24224											
PITPNM2	57605	broad.mit.edu	37	chr12	123494407	123494407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgctcaccggtgtcgtgGatgaacctctcgatcttgga	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000542749.1	-	4	696	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000451868.2_5'UTR|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.I211I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	211					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(631-633)atC>atT		phosphatidylinositol transfer protein, membrane-associated 2							178	151	160					12																	123494407		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494407G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.633C>T	12.37:g.123494407G>A						PITPNM2_ENST00000542749.1_Silent_p.I211I|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.I211I	p.I211I			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	838	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		211					Q9P271	Silent	SNP	ENST00000542749.1	37	c.633C>T	CCDS9242.1																																																																																				0.582	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		113	570	0	0	0	1	0	113	570					A	123494407	G	A	123494407	2	1	79	1	0	0	0	0	0	0	0	1	11993	1164	41	2		2	PITPNM2	12	123494407	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9023	123494407	10357488	13908	24225											
PITPNM2	57605	broad.mit.edu	37	chr12	123498455	123498455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggatggagcggaaccaGctgggaatgtgcatgcccac	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123498455G>T	ENST00000542749.1	-	2	276	c.213C>A	c.(211-213)agC>agA	p.S71R	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S71R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	71					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGAACCAGCTGGGAATGT	0.632																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(211-213)agC>agA		phosphatidylinositol transfer protein, membrane-associated 2							137	111	119					12																	123498455		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123498455G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.213C>A	12.37:g.123498455G>T	ENSP00000437611:p.Ser71Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R	p.S71R			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	3	418	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		71					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.213C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095939	0.76870	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.44881	0.91;0.91;0.91	4.42	3.52	0.40303	START-like domain (1);	0.301301	0.34291	N	0.004093	T	0.47192	0.1432	L	0.50993	1.605	0.80722	D	1	P;B;P	0.50272	0.933;0.391;0.603	P;P;P	0.53313	0.723;0.579;0.521	T	0.43032	-0.9416	10	0.54805	T	0.06	-12.4612	9.8786	0.41220	0.1677:0.0:0.8323:0.0	.	71;71;71	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	R	71	ENSP00000280562:S71R;ENSP00000322218:S71R;ENSP00000437611:S71R	ENSP00000280562:S71R	S	-	3	2	PITPNM2	122064408	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	4.645000	0.61404	0.977000	0.38444	0.655000	0.94253	AGC		0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		12	353	1	0	9.05144e-12	1	9.67624e-12	12	353					T	123498455	G	T	123498455	3	4	79	1	0	0	0	0	1	0	0	0	11993	962	34	3	3928	3	PITPNM2	12	123498455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	123498455	10353440	13909	24226											
SBNO1	55206	broad.mit.edu	37	chr12	123794273	123794273	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaagattcccatatcAtatcttccattttttttggc	3	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000602398.1	-	26	3553	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1142					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCCATATCATATCTTCCAT	0.398																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3424-3426)taT>taC		strawberry notch homolog 1 (Drosophila)							134	130	131					12																	123794273		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794273A>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3426T>C	12.37:g.123794273A>G						SBNO1_ENST00000602398.1_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y	p.Y1142Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3425	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1142					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3426T>C	CCDS53844.1																																																																																				0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		54	446	0	0	0	1	0	54	446					G	123794273	A	G	123794273	2	3	79	1	0	0	0	0	0	0	0	1	13912	224	8	4		4	SBNO1	12	123794273	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295818	123794273	10057622	13910	24227											
SBNO1	55206	broad.mit.edu	37	chr12	123814975	123814975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttcataccttatttaaCgaatgaaccaaaatgttttt	4	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000602398.1	-	9	1252	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S|SBNO1_ENST00000267176.4_Silent_p.S374S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	375					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTATTTAACGAATGAACCA	0.294																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1123-1125)tcG>tcA		strawberry notch homolog 1 (Drosophila)							72	72	72					12																	123814975		2198	4300	6498	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123814975C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1125G>A	12.37:g.123814975C>T						SBNO1_ENST00000602398.1_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S|SBNO1_ENST00000267176.4_Silent_p.S374S	p.S375S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	8	1124	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		375					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.1125G>A	CCDS53844.1																																																																																				0.294	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	101	0	0	0	1	0	11	101					T	123814975	C	T	123814975	2	4	79	1	0	0	0	0	0	0	0	1	13912	523	19	1		1	SBNO1	12	123814975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20702	123814975	10036920	13911	24228											
SETD8	387893	broad.mit.edu	37	chr12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgccaagaaacgggaggCtctgtacgcacaggaccctt	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	301	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542																																						ENST00000402868.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13						c.(778-780)gCt>gTt		SET domain containing (lysine methyltransferase) 8							52	48	49					12																	123889552		2203	4297	6500	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123889552C>T	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.779C>T	12.37:g.123889552C>T	ENSP00000384629:p.Ala260Val					SETD8_ENST00000330479.4_Missense_Mutation_p.A260V	p.A260V			Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	7	1205	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			SET.		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.779C>T	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708942	0.89018	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85773	-2.03;-2.03;-2.03	5.02	5.02	0.67125	SET domain (3);	0.046821	0.85682	D	0.000000	T	0.78285	0.4259	L	0.31804	0.96	0.80722	D	1	P;P	0.36438	0.553;0.498	B;B	0.30943	0.122;0.074	T	0.80202	-0.1480	10	0.54805	T	0.06	-12.6544	18.7023	0.91625	0.0:1.0:0.0:0.0	.	301;260	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	260;260;251	ENSP00000384629:A260V;ENSP00000332995:A260V;ENSP00000413811:A251V	ENSP00000332995:A260V	A	+	2	0	SETD8	122455505	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.050000	0.71063	2.492000	0.84095	0.655000	0.94253	GCT		0.542	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		45	236	0	0	0	1	0	45	236					T	123889552	C	T	123889552	3	4	79	1	0	0	0	0	1	0	0	0	14187	797	28	2	805	2	SETD8	12	123889552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74577	123889552	9962343	13912	24229											
SNRNP35	11066	broad.mit.edu	37	chr12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggagtctgggcaactgaGatttgggggacgggaccggc	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	154	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(460-462)aGa>aTa		small nuclear ribonucleoprotein 35kDa (U11/U12)							57	68	64					12																	123950548		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950548G>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.461G>T	12.37:g.123950548G>T	ENSP00000432595:p.Arg154Ile					SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	p.R154I	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1040	+			154			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.461G>T	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245181	0.95272	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75477	-0.94;-0.94;-0.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86936	0.2076	10	0.87932	D	0	-15.4667	20.034	0.97549	0.0:0.0:1.0:0.0	.	159;154	Q16560-2;Q16560	.;U1SBP_HUMAN	I	154;159;154	ENSP00000432595:R154I;ENSP00000403310:R159I;ENSP00000340774:R154I	ENSP00000340774:R154I	R	+	2	0	SNRNP35	122516501	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.389000	0.97243	2.753000	0.94483	0.555000	0.69702	AGA		0.517	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		105	467	1	0	1.11883e-47	1	1.37812e-47	105	467					T	123950548	G	T	123950548	3	4	79	1	0	0	0	0	1	0	0	0	14905	942	33	3	482	3	SNRNP35	12	123950548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60996	123950548	9901347	13913	24230											
RILPL1	353116	broad.mit.edu	37	chr12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcctgctcacctcagGctcctcctccccattctggc	6	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000376874.4	-	4	1031	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	266					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(796-798)Cct>Tct		Rab interacting lysosomal protein-like 1							34	38	37					12																	123983096		2085	4218	6303	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983096G>A	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.796C>T	12.37:g.123983096G>A	ENSP00000366070:p.Pro266Ser					RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	p.P266S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	4	1031	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		266					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.796C>T	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333126	0.24167	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.19394	2.15;2.15	5.54	3.48	0.39840	.	0.650449	0.15025	N	0.284775	T	0.13372	0.0324	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.23249	0.002;0.049;0.082	B;B;B	0.25140	0.006;0.026;0.058	T	0.06991	-1.0796	10	0.09590	T	0.72	-20.6686	3.4791	0.07595	0.1194:0.1558:0.5535:0.1713	.	242;266;115	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	S	266;114	ENSP00000366070:P266S;ENSP00000345874:P114S	ENSP00000345874:P114S	P	-	1	0	RILPL1	122549049	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	2.138000	0.42140	1.303000	0.44873	0.555000	0.69702	CCT		0.607	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		53	268	0	0	0	1	0	53	268					A	123983096	G	A	123983096	3	1	79	1	0	0	0	0	1	0	0	0	13411	1203	42	2	431	2	RILPL1	12	123983096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32548	123983096	9868799	13914	24231											
EIF2B1	1967	broad.mit.edu	37	chr12	124115056	124115056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcactggtgagattcGccctcagaccctggattgtc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124115056G>A	ENST00000424014.2	-	3	348	c.140C>T	c.(139-141)gCg>gTg	p.A47V	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	47					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTGAGATTCGCCCTCAGACC	0.537																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(139-141)gCg>gTg		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							102	72	82					12																	124115056		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124115056G>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.140C>T	12.37:g.124115056G>A	ENSP00000416250:p.Ala47Val					EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V	p.A47V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	3	348	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		47					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.140C>T	CCDS31924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.469841|2.469841	0.43839|0.43839	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92495|.	-3.05;-3.05;-3.05;-3.05|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.162985|.	0.53938|.	D|.	0.000048|.	T|.	0.36468|.	0.0968|.	N|N	0.11064|0.11064	0.09|0.09	0.37228|0.37228	D|D	0.905578|0.905578	D;P;B|.	0.56968|.	0.978;0.836;0.033|.	B;B;B|.	0.34452|.	0.183;0.036;0.002|.	T|.	0.38023|.	-0.9680|.	10|.	0.33940|.	T|.	0.23|.	-19.2572|-19.2572	10.5723|10.5723	0.45206|0.45206	0.0:0.2524:0.6136:0.134|0.0:0.2524:0.6136:0.134	.|.	47;34;47|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	V|X	47;47;34;47|63	ENSP00000416250:A47V;ENSP00000228958:A47V;ENSP00000438060:A34V;ENSP00000444183:A47V|.	ENSP00000228958:A47V|.	A|R	-|-	2|1	0|2	EIF2B1|EIF2B1	122681009|122681009	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.888000|0.888000	0.51559|0.51559	3.160000|3.160000	0.50739|0.50739	2.459000|2.459000	0.83118|0.83118	0.462000|0.462000	0.41574|0.41574	GCG|CGA		0.537	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		6	256	0	0	0	1	0	6	256					A	124115056	G	A	124115056	3	1	79	1	0	0	0	0	1	0	0	0	5016	1087	38	1	805	1	EIF2B1	12	124115056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131960	124115056	9736839	13915	24232											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124221607	124221607	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttgttcttccccaggTactgcacaaaaccgaggact	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	276					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.e9-1		ATPase, H+ transporting, lysosomal V0 subunit a2							116	96	103					12																	124221607		2203	4300	6503	SO:0001630	splice_region_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124221607T>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.826-1T>C	12.37:g.124221607T>C							p.V276_splice	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	9	1075	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		276					A8K026|Q6NUM0	Splice_Site	SNP	ENST00000330342.3	37	c.825_splice	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955480	0.73902	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87029	-2.2;-2.2	5.68	4.5	0.54988	.	0.104725	0.64402	D	0.000004	D	0.92476	0.7611	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	D	0.92626	0.6112	10	0.87932	D	0	-33.8503	12.8333	0.57759	0.0:0.0:0.1364:0.8636	.	276;276	Q9Y487;Q8TBM3	VPP2_HUMAN;.	A	276;276;146	ENSP00000332247:V276A;ENSP00000443441:V146A	ENSP00000332247:V276A	V	+	2	0	ATP6V0A2	122787560	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	8.023000	0.88764	0.945000	0.37605	0.482000	0.46254	GTA		0.502	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	Missense_Mutation	84	324	0	0	0	1	0	84	324					C	124221607	T	C	124221607	5	2	79	1	0	0	0	0	0	0	1	0	1170	1652	57	4	861	4	ATP6V0A2	12	124221607	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106551	124221607	9630288	13916	24233											
DNAH10	196385	broad.mit.edu	37	chr12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgtgtgtcactgagaaccGaatctctaggccaacctcta	9	12	3	1	rs374747661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(139-141)Gaa>Aaa		dynein, axonemal, heavy chain 10		G	LYS/GLU	1,3763		0,1,1881	96	86	89		139	1.7	0	12		89	0,8200		0,0,4100	no	missense	DNAH10	NM_207437.3	56	0,1,5981	AA,AG,GG		0.0,0.0266,0.0084	benign	47/4472	124256171	1,11963	1882	4100	5982	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124256171G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.139G>A	12.37:g.124256171G>A	ENSP00000386770:p.Glu47Lys						p.E47K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	3	164	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		47			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.139G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101325	0.20632	2.66E-4	0.0	ENSG00000197653	ENST00000409039	T	0.22134	1.97	3.85	1.7	0.24286	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34279	-0.9835	9	0.25106	T	0.35	.	2.7374	0.05244	0.2007:0.0:0.5023:0.297	.	47	Q8IVF4	DYH10_HUMAN	K	47	ENSP00000386770:E47K	ENSP00000386770:E47K	E	+	1	0	DNAH10	122822124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	0.216000	0.20781	0.591000	0.81541	GAA		0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	73	0	0	0	1	0	12	73					A	124256171	G	A	124256171	3	1	79	1	0	0	0	0	1	0	0	0	4614	1059	37	1	149	1	DNAH10	12	124256171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34564	124256171	9595724	13917	24234											
DNAH10	196385	broad.mit.edu	37	chr12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgattccgctcatggagCgcatcgcctgggaaatcgct	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	393	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCATGGAGCGCATCGCCTG	0.522																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1177-1179)Cgc>Tgc		dynein, axonemal, heavy chain 10							121	108	112					12																	124270422		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124270422C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1177C>T	12.37:g.124270422C>T	ENSP00000386770:p.Arg393Cys						p.R393C	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	9	1202	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		393			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1177C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199323	0.79015	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.52	3.53	0.40419	Dynein heavy chain, domain-1 (1);	0.000000	0.56097	D	0.000025	T	0.76321	0.3971	M	0.90369	3.11	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82989	-0.0183	10	0.87932	D	0	.	14.7437	0.69474	0.4336:0.5664:0.0:0.0	.	393	Q8IVF4	DYH10_HUMAN	C	393	ENSP00000386770:R393C	ENSP00000386770:R393C	R	+	1	0	DNAH10	122836375	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.448000	0.44926	1.397000	0.46682	0.561000	0.74099	CGC		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			70	305	0	0	0	1	0	70	305					T	124270422	C	T	124270422	3	4	79	1	0	0	0	0	1	0	0	0	4614	768	27	1	1211	1	DNAH10	12	124270422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14251	124270422	9581473	13918	24235											
DNAH10	196385	broad.mit.edu	37	chr12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacgggggaccccaagcGcattgatgatgtcctatgca	13	10	0	3	rs201031616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R501H(1)|p.R319H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCCAAGCGCATTGATGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17264	0.001		0.0	False		,,,				2504	0.0					ENST00000409039.3																			2	Substitution - Missense(2)	p.R501H(1)|p.R319H(1)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1501-1503)cGc>cAc		dynein, axonemal, heavy chain 10							170	159	163					12																	124274538		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124274538G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1502G>A	12.37:g.124274538G>A	ENSP00000386770:p.Arg501His						p.R501H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	11	1527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		501			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1502G>A	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.22	3.333288	0.60853	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.251815	0.27068	N	0.021095	T	0.65770	0.2723	M	0.73962	2.25	0.29940	N	0.821176	D	0.71674	0.998	P	0.57548	0.823	T	0.66952	-0.5793	10	0.45353	T	0.12	.	12.4417	0.55629	0.0809:0.0:0.9191:0.0	.	501	Q8IVF4	DYH10_HUMAN	H	501	ENSP00000386770:R501H	ENSP00000386770:R501H	R	+	2	0	DNAH10	122840491	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	4.281000	0.58965	2.446000	0.82766	0.555000	0.69702	CGC		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			137	676	0	0	0	1	0	137	676					A	124274538	G	A	124274538	3	1	79	1	0	0	0	0	1	0	0	0	4614	1087	38	1	1544	1	DNAH10	12	124274538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4116	124274538	9577357	13919	24236											
DNAH10	196385	broad.mit.edu	37	chr12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgggaaaagaaaatTtatgaggtcctgacaaagct	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGAAAATTTATGAGGTCC	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2602-2604)atT>atG		dynein, axonemal, heavy chain 10							67	70	69					12																	124289558		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124289558T>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2604T>G	12.37:g.124289558T>G	ENSP00000386770:p.Ile868Met						p.I868M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	17	2629	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		868			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2604T>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306600	0.40795	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.42	-3.79	0.04320	.	0.494884	0.17038	N	0.189451	T	0.33760	0.0874	L	0.57536	1.79	0.28725	N	0.902835	P;P;D	0.59357	0.886;0.819;0.985	P;P;P	0.59595	0.628;0.611;0.86	T	0.31223	-0.9951	10	0.15066	T	0.55	.	12.6907	0.56972	0.0:0.6709:0.1208:0.2083	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	868	ENSP00000386770:I868M	ENSP00000386770:I868M	I	+	3	3	DNAH10	122855511	0.318000	0.24598	0.002000	0.10522	0.182000	0.23217	-0.382000	0.07408	-1.010000	0.03396	-0.491000	0.04670	ATT		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			64	276	0	0	0	1	0	64	276					G	124289558	T	G	124289558	3	3	79	1	0	0	0	0	1	0	0	0	4614	1829	64	4	2670	4	DNAH10	12	124289558	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15020	124289558	9562337	13920	24237											
DNAH10	196385	broad.mit.edu	37	chr12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actacagagttcagatagagGagtttgcaaagcgtttttac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3586-3588)Gag>Aag		dynein, axonemal, heavy chain 10							161	154	156					12																	124303737		1913	4128	6041	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124303737G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3586G>A	12.37:g.124303737G>A	ENSP00000386770:p.Glu1196Lys						p.E1196K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	22	3611	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1196			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3586G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359278	0.11239	.	.	ENSG00000197653	ENST00000409039	T	0.21191	2.02	5.18	1.15	0.20763	.	.	.	.	.	T	0.09730	0.0239	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41305	-0.9516	9	0.13470	T	0.59	.	6.9428	0.24502	0.1514:0.2907:0.5579:0.0	.	1196	Q8IVF4	DYH10_HUMAN	K	1196	ENSP00000386770:E1196K	ENSP00000386770:E1196K	E	+	1	0	DNAH10	122869690	0.055000	0.20627	0.000000	0.03702	0.064000	0.16182	0.915000	0.28638	-0.064000	0.13043	0.455000	0.32223	GAG		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			16	85	0	0	0	1	0	16	85					A	124303737	G	A	124303737	3	1	79	1	0	0	0	0	1	0	0	0	4614	1175	41	2	3672	2	DNAH10	12	124303737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14179	124303737	9548158	13921	24238											
DNAH10	196385	broad.mit.edu	37	chr12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatataagatcacaacttcCggaagaggcaaaaaagtttg	9	6	1	3	rs375189808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1501	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACAACTTCCGGAAGAGGCA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		20574	0.0		0.0	False		,,,				2504	0.001					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4501-4503)cCg>cTg		dynein, axonemal, heavy chain 10		C	LEU/PRO	1,3689		0,1,1844	92	84	86		4502	6	0.7	12		86	1,8179		0,1,4089	no	missense	DNAH10	NM_207437.3	98	0,2,5933	TT,TC,CC		0.0122,0.0271,0.0168	probably-damaging	1501/4472	124320029	2,11868	1845	4090	5935	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124320029C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4502C>T	12.37:g.124320029C>T	ENSP00000386770:p.Pro1501Leu						p.P1501L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	27	4527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1501			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4502C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914796	0.72983	2.71E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.66280	-0.2	6.02	6.02	0.97574	Dynein heavy chain, domain-2 (1);	0.077772	0.52532	U	0.000069	D	0.89223	0.6654	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92902	0.6340	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1501	Q8IVF4	DYH10_HUMAN	L	1501	ENSP00000386770:P1501L	ENSP00000386770:P1501L	P	+	2	0	DNAH10	122885982	1.000000	0.71417	0.745000	0.31077	0.114000	0.19823	5.784000	0.68990	2.857000	0.98124	0.650000	0.86243	CCG		0.348	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			18	79	0	0	0	1	0	18	79					T	124320029	C	T	124320029	3	4	79	1	0	0	0	0	1	0	0	0	4614	652	23	1	4608	1	DNAH10	12	124320029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16292	124320029	9531866	13922	24239											
DNAH10	196385	broad.mit.edu	37	chr12	124332579	124332579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccgagaccaccaaggaCctggcgaaagccttgggctt	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1844	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACCAAGGACCTGGCGAAAG	0.552																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5530-5532)gaC>gaT		dynein, axonemal, heavy chain 10							113	117	116					12																	124332579		1998	4186	6184	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332579C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5532C>T	12.37:g.124332579C>T							p.D1844D	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5557	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1844			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5532C>T	CCDS9255.2																																																																																				0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			147	614	0	0	0	1	0	147	614					T	124332579	C	T	124332579	2	4	79	1	0	0	0	0	0	0	0	1	4614	506	18	2		2	DNAH10	12	124332579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12550	124332579	9519316	13923	24240											
DNAH10	196385	broad.mit.edu	37	chr12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatttccctggactcccGcatgggcatcttcatcacca	9	14	3	1	rs370827875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5779-5781)cGc>cAc		dynein, axonemal, heavy chain 10		G	HIS/ARG	0,4282		0,0,2141	37	41	40		5780	5.5	0	12		40	1,8537		0,1,4268	no	missense	DNAH10	NM_207437.3	29	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	1927/4472	124335466	1,12819	2141	4269	6410	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335466G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5780G>A	12.37:g.124335466G>A	ENSP00000386770:p.Arg1927His						p.R1927H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5805	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1927			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5780G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950710	0.73787	0.0	1.17E-4	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.49508	0.1561	N	0.14661	0.345	0.53688	D	0.99997	D	0.76494	0.999	D	0.68765	0.96	T	0.55872	-0.8072	10	0.56958	D	0.05	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	H	1927	ENSP00000386770:R1927H	ENSP00000386770:R1927H	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			68	285	0	0	0	1	0	68	285					A	124335466	G	A	124335466	3	1	79	1	0	0	0	0	1	0	0	0	4614	1087	38	1	5914	1	DNAH10	12	124335466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2887	124335466	9516429	13924	24241											
DNAH10	196385	broad.mit.edu	37	chr12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttccttcagaggagtctCtgcatttaatttattcctcc	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2602	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAGTCTCTGCATTTAAT	0.448																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(7804-7806)Ctg>Atg		dynein, axonemal, heavy chain 10							133	122	125					12																	124359997		1883	4113	5996	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124359997C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7804C>A	12.37:g.124359997C>A	ENSP00000386770:p.Leu2602Met						p.L2602M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	46	7829	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2602			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.7804C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516031	0.64634	.	.	ENSG00000197653	ENST00000409039	T	0.52754	0.65	5.41	-5.07	0.02938	.	0.000000	0.56097	U	0.000029	T	0.63438	0.2511	M	0.71036	2.16	0.40633	D	0.981872	D	0.89917	1.0	D	0.87578	0.998	T	0.67325	-0.5699	10	0.29301	T	0.29	.	20.508	0.99210	0.0:0.8064:0.0:0.1936	.	2602	Q8IVF4	DYH10_HUMAN	M	2602	ENSP00000386770:L2602M	ENSP00000386770:L2602M	L	+	1	2	DNAH10	122925950	0.003000	0.15002	0.361000	0.25849	0.946000	0.59487	0.056000	0.14256	-1.066000	0.03164	-0.484000	0.04775	CTG		0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			65	268	1	0	9.5628e-27	1	1.10398e-26	65	268					A	124359997	C	A	124359997	3	1	79	1	0	0	0	0	1	0	0	0	4614	912	32	3	7986	3	DNAH10	12	124359997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24531	124359997	9491898	13925	24242											
DNAH10	196385	broad.mit.edu	37	chr12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcggagaagtccgccGcctgcgaggccttgctggag	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3081	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGTCCGCCGCCTGCGAGGC	0.647																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9241-9243)Gcc>Acc		dynein, axonemal, heavy chain 10							20	25	24					12																	124383316		2001	4172	6173	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124383316G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9241G>A	12.37:g.124383316G>A	ENSP00000386770:p.Ala3081Thr						p.A3081T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	55	9266	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3081			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9241G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164423	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.74421	-0.84	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.064020	0.64402	D	0.000006	D	0.85656	0.5747	M	0.89785	3.06	0.54753	D	0.99998	D	0.65815	0.995	P	0.55667	0.781	D	0.87201	0.2241	10	0.37606	T	0.19	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	3081	Q8IVF4	DYH10_HUMAN	T	3081	ENSP00000386770:A3081T	ENSP00000386770:A3081T	A	+	1	0	DNAH10	122949269	1.000000	0.71417	0.934000	0.37439	0.142000	0.21351	7.803000	0.85983	2.350000	0.79820	0.462000	0.41574	GCC		0.647	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			29	103	0	0	0	1	0	29	103					A	124383316	G	A	124383316	3	1	79	1	0	0	0	0	1	0	0	0	4614	1087	38	1	9459	1	DNAH10	12	124383316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23319	124383316	9468579	13926	24243											
DNAH10	196385	broad.mit.edu	37	chr12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgagatcatggagaggCggctgattgccgcagacaaa	14	9	1	4	rs190094672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3316					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGGAGAGGCGGCTGATTGC	0.537													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9946-9948)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	2,3818		0,2,1908	32	34	33		9946	2.4	0.6	12		33	0,8208		0,0,4104	yes	missense	DNAH10	NM_207437.3	101	0,2,6012	TT,TC,CC		0.0,0.0524,0.0166	probably-damaging	3316/4472	124397810	2,12026	1910	4104	6014	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124397810C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9946C>T	12.37:g.124397810C>T	ENSP00000386770:p.Arg3316Trp						p.R3316W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	59	9971	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3316					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9946C>T	CCDS9255.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	20.8	4.055986	0.76074	5.24E-4	0.0	ENSG00000197653	ENST00000409039	T	0.74526	-0.85	5.43	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.95917	3.74	0.49130	D	0.999759	D	0.76494	0.999	D	0.68483	0.958	D	0.90043	0.4143	10	0.87932	D	0	.	14.6521	0.68805	0.5145:0.4855:0.0:0.0	.	3316	Q8IVF4	DYH10_HUMAN	W	3316	ENSP00000386770:R3316W	ENSP00000386770:R3316W	R	+	1	2	DNAH10	122963763	0.287000	0.24315	0.572000	0.28498	0.974000	0.67602	0.831000	0.27476	0.193000	0.20303	0.655000	0.94253	CGG		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			13	55	0	0	0	1	0	13	55					T	124397810	C	T	124397810	3	4	79	1	0	0	0	0	1	0	0	0	4614	759	27	1	10180	1	DNAH10	12	124397810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14494	124397810	9454085	13927	24244											
DNAH10	196385	broad.mit.edu	37	chr12	124415935	124415935	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acacgccagaagtgtttggtCtccaccccaacgctgagatt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124415935C>A	ENST00000409039.3	+	73	12503	c.12478C>A	c.(12478-12480)Ctc>Atc	p.L4160I	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGTTTGGTCTCCACCCCAA	0.577																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12478-12480)Ctc>Atc		dynein, axonemal, heavy chain 10							57	64	62					12																	124415935		2125	4229	6354	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124415935C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12478C>A	12.37:g.124415935C>A	ENSP00000386770:p.Leu4160Ile					DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	p.L4160I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	73	12503	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4160					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12478C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296746	0.81025	.	.	ENSG00000197653	ENST00000409039	T	0.21031	2.03	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78168	-0.2309	10	0.72032	D	0.01	.	19.6276	0.95684	0.0:1.0:0.0:0.0	.	4160	Q8IVF4	DYH10_HUMAN	I	4160	ENSP00000386770:L4160I	ENSP00000386770:L4160I	L	+	1	0	DNAH10	122981888	1.000000	0.71417	0.382000	0.26119	0.573000	0.36030	6.049000	0.71053	2.637000	0.89404	0.650000	0.86243	CTC		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			48	205	1	0	2.81731e-22	1	3.18527e-22	48	205					A	124415935	C	A	124415935	3	1	79	1	0	0	0	0	1	0	0	0	4614	913	32	3	12768	3	DNAH10	12	124415935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18125	124415935	9435960	13928	24245											
DNAH10	196385	broad.mit.edu	37	chr12	124416568	124416568	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgggcatatccctaatatCtggagaaggcttgctcctga	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124416568C>A	ENST00000409039.3	+	75	12880	c.12855C>A	c.(12853-12855)atC>atA	p.I4285I	DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4285					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCTAATATCTGGAGAAGGC	0.478																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12853-12855)atC>atA		dynein, axonemal, heavy chain 10							91	95	94					12																	124416568		1943	4143	6086	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416568C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12855C>A	12.37:g.124416568C>A						DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	p.I4285I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12880	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4285					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12855C>A	CCDS9255.2																																																																																				0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			23	362	1	0	6.36457e-07	1	6.58826e-07	23	362					A	124416568	C	A	124416568	2	1	79	1	0	0	0	0	0	0	0	1	4614	903	32	3		3	DNAH10	12	124416568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	124416568	9435327	13929	24246											
CCDC92	80212	broad.mit.edu	37	chr12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgatgtgccaccccgaCgtgggccttgtgcggctttt	13	13	0	0	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000238156.3	-	5	1219	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	289						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCCACCCCGACGTGGGCCTTG	0.697													C|||	7	0.00139776	0.0053	0.0	5008	,	,		11508	0.0		0.0	False		,,,				2504	0.0					ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(814-816)Gtc>Atc		coiled-coil domain containing 92		C	ILE/VAL	14,4388		0,14,2187	21	22	22		865	4.5	1	12	dbSNP_126	22	0,8594		0,0,4297	no	missense	CCDC92	NM_025140.1	29	0,14,6484	TT,TC,CC		0.0,0.318,0.1077	benign	289/332	124421736	14,12982	2201	4297	6498	SO:0001583	missense	80212							g.chr12:124421736C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.865G>A	12.37:g.124421736C>T	ENSP00000238156:p.Val289Ile					CCDC92_ENST00000238156.3_Missense_Mutation_p.V289I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I	p.V272I			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	4110	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		289					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.814G>A	CCDS9256.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.24	1.877744	0.33162	0.00318	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.26067	1.76;1.8;1.8	5.43	4.53	0.55603	.	0.197295	0.44097	N	0.000489	T	0.10035	0.0246	N	0.12746	0.255	0.38912	D	0.957564	B	0.21821	0.061	B	0.17098	0.017	T	0.08493	-1.0719	10	0.37606	T	0.19	-16.8421	9.9182	0.41448	0.0:0.7836:0.0:0.2164	rs34103982	289	Q53HC0	CCD92_HUMAN	I	289;272;272	ENSP00000238156:V289I;ENSP00000439526:V272I;ENSP00000440024:V272I	ENSP00000238156:V289I	V	-	1	0	CCDC92	122987689	0.993000	0.37304	0.990000	0.47175	0.309000	0.27889	0.366000	0.20365	1.261000	0.44149	0.505000	0.49811	GTC		0.697	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		34	266	0	0	0	1	0	34	266					T	124421736	C	T	124421736	3	4	79	1	0	0	0	0	1	0	0	0	2878	536	19	1	134	1	CCDC92	12	124421736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5168	124421736	9430159	13930	24247											
CCDC92	80212	broad.mit.edu	37	chr12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaggtaggcgatggtgCtggcccgctgctccagctcg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000238156.3	-	5	812	c.458G>T	c.(457-459)aGc>aTc	p.S153I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	153						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCGATGGTGCTGGCCCGCTG	0.622																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(406-408)aGc>aTc		coiled-coil domain containing 92							114	97	103					12																	124422143		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422143C>A	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.458G>T	12.37:g.124422143C>A	ENSP00000238156:p.Ser153Ile					CCDC92_ENST00000238156.3_Missense_Mutation_p.S153I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I	p.S136I			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3703	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		153					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.407G>T	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816209	0.50527	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.25414	1.8;1.82;1.82	5.56	2.74	0.32292	.	0.466412	0.27323	N	0.019897	T	0.24509	0.0594	M	0.72479	2.2	0.40073	D	0.976031	P	0.36909	0.573	B	0.32289	0.143	T	0.03597	-1.1021	10	0.44086	T	0.13	-3.2303	8.999	0.36069	0.0:0.7439:0.1223:0.1337	.	153	Q53HC0	CCD92_HUMAN	I	153;136;136	ENSP00000238156:S153I;ENSP00000439526:S136I;ENSP00000440024:S136I	ENSP00000238156:S153I	S	-	2	0	CCDC92	122988096	1.000000	0.71417	0.820000	0.32676	0.100000	0.18952	4.971000	0.63749	0.305000	0.22832	-0.226000	0.12346	AGC		0.622	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		142	569	1	0	1.35869e-70	1	1.72609e-70	142	569					A	124422143	C	A	124422143	3	1	79	1	0	0	0	0	1	0	0	0	2878	797	28	3	541	3	CCDC92	12	124422143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	407	124422143	9429752	13931	24248											
CCDC92	80212	broad.mit.edu	37	chr12	124428028	124428028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtggctgccatgctgAcatccagaggacctgtgggt	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124428028A>G	ENST00000238156.3	-	3	401	c.47T>C	c.(46-48)gTc>gCc	p.V16A	CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	16						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGCCATGCTGACATCCAGAGG	0.632																																						ENST00000238156.3																			0				large_intestine(5)|lung(2)	7						c.(46-48)gTc>gCc		coiled-coil domain containing 92							114	102	106					12																	124428028		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124428028A>G	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.47T>C	12.37:g.124428028A>G	ENSP00000238156:p.Val16Ala					CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_5'UTR	p.V16A	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	401	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		16					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.47T>C	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428672	0.43122	.	.	ENSG00000119242	ENST00000238156;ENST00000539761;ENST00000539551	T;T;T	0.55234	1.64;0.55;0.53	5.77	4.62	0.57501	.	0.165377	0.53938	N	0.000044	T	0.39733	0.1089	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17531	-1.0366	10	0.31617	T	0.26	-6.7798	8.4781	0.33025	0.7971:0.0:0.2029:0.0	.	16	Q53HC0	CCD92_HUMAN	A	16	ENSP00000238156:V16A;ENSP00000439441:V16A;ENSP00000442369:V16A	ENSP00000238156:V16A	V	-	2	0	CCDC92	122993981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.875000	0.39578	1.006000	0.39211	0.459000	0.35465	GTC		0.632	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		15	645	0	0	0	1	0	15	645					G	124428028	A	G	124428028	3	3	79	1	0	0	0	0	1	0	0	0	2878	275	10	4	960	4	CCDC92	12	124428028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5885	124428028	9423867	13932	24249											
ZNF664	144348	broad.mit.edu	37	chr12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacctttgcatgcatcagagAgtccacaccggagagaagcc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGCATCAGAGAGTCCACACCG	0.468																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(403-405)agA>agT		zinc finger protein 664							72	83	79					12																	124497096		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497096A>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.405A>T	12.37:g.124497096A>T	ENSP00000441405:p.Arg135Ser					RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S	p.R135S			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2235	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		135					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.405A>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692233	0.68271	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.25	-0.735	0.11137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001310	T	0.32941	0.0846	L	0.58428	1.81	0.32323	N	0.56211	D	0.71674	0.998	D	0.65323	0.934	T	0.42189	-0.9466	10	0.87932	D	0	-30.8672	0.788	0.01052	0.358:0.1751:0.297:0.1699	.	135	Q8N3J9	ZN664_HUMAN	S	135;135;135;135;73	ENSP00000441405:R135S;ENSP00000376205:R135S;ENSP00000440645:R135S;ENSP00000337320:R135S	ENSP00000337320:R135S	R	+	3	2	ZNF664	123063049	0.010000	0.17322	0.997000	0.53966	0.997000	0.91878	-0.127000	0.10547	-0.127000	0.11661	0.533000	0.62120	AGA		0.468	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		93	687	0	0	0	1	0	93	687					T	124497096	A	T	124497096	3	4	79	1	0	0	0	0	1	0	0	0	18125	301	11	5	407	5	ZNF664	12	124497096	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69068	124497096	9354799	13933	24250											
FAM101A	144347	broad.mit.edu	37	chr12	124796398	124796398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatcccccggcgtcggAgatgaggccccggatgctgc	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124796398A>G	ENST00000389727.3	+	2	242	c.242A>G	c.(241-243)gAg>gGg	p.E81G	FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000324038.3_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	81										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCGGCGTCGGAGATGAGGCCC	0.652																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(241-243)gAg>gGg		family with sequence similarity 101, member A							30	27	28					12																	124796398		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124796398A>G		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.242A>G	12.37:g.124796398A>G	ENSP00000374377:p.Glu81Gly					FAM101A_ENST00000546355.1_5'UTR|RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000324038.3_5'UTR|FAM101A_ENST00000338359.4_5'UTR	p.E81G			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	2	242	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		81					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.242A>G		.	.	.	.	.	.	.	.	.	.	A	7.962	0.747238	0.15710	.	.	ENSG00000178882	ENST00000389727	.	.	.	4.83	0.958	0.19619	.	0.167008	0.52532	U	0.000078	T	0.42131	0.1189	.	.	.	0.37423	D	0.913707	.	.	.	.	.	.	T	0.24048	-1.0171	6	0.22706	T	0.39	18.1017	5.1919	0.15214	0.5487:0.3547:0.0966:0.0	.	.	.	.	G	81	.	ENSP00000374377:E81G	E	+	2	0	FAM101A	123362351	1.000000	0.71417	0.228000	0.23943	0.019000	0.09904	4.229000	0.58625	-0.082000	0.12640	0.459000	0.35465	GAG		0.652	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		16	100	0	0	0	1	0	16	100					G	124796398	A	G	124796398	3	3	79	1	0	0	0	0	1	0	0	0	5401	319	11	4	1	4	FAM101A	12	124796398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	299302	124796398	9055497	13934	24251											
FAM101A	144347	broad.mit.edu	37	chr12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggagccacgcccgcGcgccctgcgcttccgcagca	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000389727.3	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	160										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(478-480)cGc>cAc		family with sequence similarity 101, member A							93	87	89					12																	124798899		2203	4298	6501	SO:0001583	missense	144347							g.chr12:124798899G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.479G>A	12.37:g.124798899G>A	ENSP00000374377:p.Arg160His					FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H	p.R160H			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	479	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		160					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.479G>A		.	.	.	.	.	.	.	.	.	.	G	17.56	3.419266	0.62622	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.190246	0.47455	D	0.000233	T	0.68668	0.3026	M	0.66939	2.045	0.38343	D	0.944114	D	0.89917	1.0	D	0.71414	0.973	T	0.73799	-0.3869	9	0.87932	D	0	-1.3042	6.1345	0.20223	0.2454:0.0:0.7546:0.0	.	160	Q6ZTI6	F101A_HUMAN	H	79;160;79;79	.	ENSP00000315626:R79H	R	+	2	0	FAM101A	123364852	0.996000	0.38824	0.683000	0.30040	0.527000	0.34593	2.094000	0.41719	2.148000	0.66965	0.555000	0.69702	CGC		0.692	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		146	576	0	0	0	1	0	146	576					A	124798899	G	A	124798899	3	1	79	1	0	0	0	0	1	0	0	0	5401	1087	38	1	242	1	FAM101A	12	124798899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2501	124798899	9052996	13935	24252											
FAM101A	144347	broad.mit.edu	37	chr12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactttccggaccaccctgCactgcagcctgggccggccc	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000389727.3	+	3	550	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(550-552)Cac>Tac		family with sequence similarity 101, member A							41	41	41					12																	124798970		2203	4298	6501	SO:0001583	missense	144347							g.chr12:124798970C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.550C>T	12.37:g.124798970C>T	ENSP00000374377:p.His184Tyr					FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y	p.H184Y			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	550	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		184					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	C	14.99	2.700828	0.48307	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	3.81	0.43845	.	0.461107	0.23924	N	0.043209	T	0.32194	0.0821	L	0.36672	1.1	0.30418	N	0.778351	P	0.40731	0.728	B	0.40825	0.341	T	0.34153	-0.9840	9	0.62326	D	0.03	-17.4896	6.5299	0.22322	0.309:0.5978:0.0:0.0931	.	184	Q6ZTI6	F101A_HUMAN	Y	103;184;103;103	.	ENSP00000315626:H103Y	H	+	1	0	FAM101A	123364923	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.132000	0.64758	0.966000	0.38159	0.561000	0.74099	CAC		0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		85	316	0	0	0	1	0	85	316					T	124798970	C	T	124798970	3	4	79	1	0	0	0	0	1	0	0	0	5401	710	25	2	313	2	FAM101A	12	124798970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	124798970	9052925	13936	24253											
NCOR2	9612	broad.mit.edu	37	chr12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggtgggtacaggtgcGggtaggtggggttgggggcc	25	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000405201.1	-	34	4985	c.4985C>T	c.(4984-4986)cCg>cTg	p.P1662L	NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5005-5007)cCg>cTg		nuclear receptor corepressor 2							39	47	44					12																	124826572		2065	4190	6255	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124826572G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4985C>T	12.37:g.124826572G>A	ENSP00000384018:p.Pro1662Leu					NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1662L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L	p.P1669L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	35	5161	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1670					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5006C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868059	0.72065	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.23	4.23	0.50019	.	0.065092	0.64402	D	0.000006	T	0.66416	0.2787	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71823	-0.4476	10	0.87932	D	0	-22.6781	16.6063	0.84830	0.0:0.0:1.0:0.0	.	1652;1653;1662	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1662;1652;1669;1653;1661;1223;1652	ENSP00000384018:P1662L;ENSP00000384202:P1652L;ENSP00000348551:P1669L;ENSP00000380513:P1653L;ENSP00000385618:P1223L;ENSP00000400281:P1652L	ENSP00000348551:P1669L	P	-	2	0	NCOR2	123392525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	1.895000	0.54865	0.491000	0.48974	CCG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		37	276	0	0	0	1	0	37	276					A	124826572	G	A	124826572	3	1	79	1	0	0	0	0	1	0	0	0	10278	1116	39	1	2615	1	NCOR2	12	124826572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27602	124826572	9025323	13937	24254											
NCOR2	9612	broad.mit.edu	37	chr12	124827723	124827723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggcgatctcacgaggCgtcgacgtcagctttcggtc	13	12	2	0	rs571877591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000405201.1	-	33	4764	c.4764G>A	c.(4762-4764)acG>acA	p.T1588T	NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000356219.3_Silent_p.T1595T|NCOR2_ENST00000404121.2_Silent_p.T1149T|NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000404621.1_Silent_p.T1578T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1596					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4783-4785)acG>acA		nuclear receptor corepressor 2							46	56	53					12																	124827723		2175	4254	6429	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827723C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4764G>A	12.37:g.124827723C>T						NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000405201.1_Silent_p.T1588T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000404121.2_Silent_p.T1149T	p.T1595T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	4940	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1596					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.4785G>A	CCDS41858.2																																																																																				0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	224	0	0	0	1	0	16	224					T	124827723	C	T	124827723	2	4	79	1	0	0	0	0	0	0	0	1	10278	755	27	1		1	NCOR2	12	124827723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	124827723	9024172	13938	24255											
NCOR2	9612	broad.mit.edu	37	chr12	124856630	124856630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtagcactggagtcGctgtcctggggggcgcccga	17	12	0	0	rs546717361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000405201.1	-	20	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000356219.3_Silent_p.S915S|NCOR2_ENST00000404121.2_Silent_p.S468S|NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000404621.1_Silent_p.S897S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	915					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12415	0.001		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2743-2745)agC>agT		nuclear receptor corepressor 2							33	42	39					12																	124856630		2122	4220	6342	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856630G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2745C>T	12.37:g.124856630G>A						NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000405201.1_Silent_p.S915S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000404121.2_Silent_p.S468S	p.S915S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2900	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		915					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2745C>T	CCDS41858.2																																																																																				0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		80	332	0	0	0	1	0	80	332					A	124856630	G	A	124856630	2	1	79	1	0	0	0	0	0	0	0	1	10278	1078	38	1		1	NCOR2	12	124856630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28907	124856630	8995265	13939	24256											
NCOR2	9612	broad.mit.edu	37	chr12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtcttccctggctgttgGcagttttgcggcctttggag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000405201.1	-	15	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	572					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1714-1716)gCc>gTc		nuclear receptor corepressor 2							163	143	149					12																	124885145		1963	4154	6117	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885145G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1715C>T	12.37:g.124885145G>A	ENSP00000384018:p.Ala572Val					NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V	p.A572V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	16	1870	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		572					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1715C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506717	0.64410	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.60271	-0.7296	10	0.87932	D	0	-31.0363	18.5739	0.91147	0.0:0.0:1.0:0.0	.	571;572;572	C9J0Q5;C9J239;C9JFD3	.;.;.	V	572;571;572;572;572;142;571;572	ENSP00000384018:A572V;ENSP00000384202:A571V;ENSP00000348551:A572V;ENSP00000380513:A572V;ENSP00000385618:A142V;ENSP00000400281:A571V;ENSP00000402808:A572V	ENSP00000348551:A572V	A	-	2	0	NCOR2	123451098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.215000	0.95146	2.382000	0.81193	0.491000	0.48974	GCC		0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		157	744	0	0	0	1	0	157	744					A	124885145	G	A	124885145	3	1	79	1	0	0	0	0	1	0	0	0	10278	1203	42	2	5985	2	NCOR2	12	124885145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28515	124885145	8966750	13940	24257											
NCOR2	9612	broad.mit.edu	37	chr12	124885186	124885186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagcctccttctcgtcGttgtcctcccctgaggtgtc	9	17	1	1	rs542671777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000405201.1	-	15	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000356219.3_Silent_p.N558N|NCOR2_ENST00000404121.2_Silent_p.N128N|NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	558					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17384	0.0		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1672-1674)aaC>aaT		nuclear receptor corepressor 2							146	129	135					12																	124885186		1951	4148	6099	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885186G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1674C>T	12.37:g.124885186G>A						NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000405201.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N	p.N558N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	16	1829	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		558					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1674C>T	CCDS41858.2																																																																																				0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		128	670	0	0	0	1	0	128	670					A	124885186	G	A	124885186	2	1	79	1	0	0	0	0	0	0	0	1	10278	1136	40	1		1	NCOR2	12	124885186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	124885186	8966709	13941	24258											
SCARB1	949	broad.mit.edu	37	chr12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagggcccgcgctcccgcacCtgcggcttctcgcccttcag	11	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000415380.2	-	2	380	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000339570.5_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	85					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(253-255)caG>caT		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						53	55	54					12																	125302125		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125302125C>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.255G>T	12.37:g.125302125C>A	ENSP00000414979:p.Gln85His					SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H	p.Q85H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	2	451	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		85					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.255G>T		.	.	.	.	.	.	.	.	.	.	C	7.826	0.718797	0.15372	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.44	-1.23	0.09465	.	0.865179	0.10224	N	0.700512	T	0.60038	0.2238	L	0.45228	1.405	0.20307	N	0.999919	P;P;P;P;P;P	0.41597	0.635;0.756;0.635;0.635;0.537;0.712	P;P;P;P;B;P	0.45681	0.49;0.49;0.468;0.468;0.358;0.456	T	0.51140	-0.8743	10	0.30854	T	0.27	-6.4271	2.2086	0.03942	0.1203:0.4056:0.1176:0.3566	.	44;85;85;85;85;85	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	85;85;85;85;44;31;48;85	ENSP00000343795:Q85H;ENSP00000414979:Q85H;ENSP00000261693:Q85H;ENSP00000442862:Q85H;ENSP00000446107:Q44H;ENSP00000444851:Q31H;ENSP00000443286:Q48H;ENSP00000443454:Q85H	ENSP00000261693:Q85H	Q	-	3	2	SCARB1	123868078	0.067000	0.21026	0.604000	0.28916	0.248000	0.25809	0.469000	0.22067	0.270000	0.21984	-0.266000	0.10368	CAG		0.622	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		71	265	1	0	1.50372e-20	1	1.68596e-20	71	265					A	125302125	C	A	125302125	3	1	79	1	0	0	0	0	1	0	0	0	13931	680	24	3	1442	3	SCARB1	12	125302125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416939	125302125	8549770	13942	24259											
UBC	7316	broad.mit.edu	37	chr12	125397088	125397088	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatgccttccttgtcttgGatctttgccttgacattctc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	ENST00000536769.1	-	1	2806	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.I334I			P0CG48	UBC_HUMAN	ubiquitin C	410	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTGTCTTGGATCTTTGCCT	0.517																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1228-1230)atC>atT		ubiquitin C							122	113	116					12																	125397088		2203	4282	6485	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397088G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1230C>T	12.37:g.125397088G>A						UBC_ENST00000546120.1_Silent_p.I334I|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000538617.1_Intron	p.I410I			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2806	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		410			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1230C>T	CCDS9260.1																																																																																				0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		66	864	0	0	0	1	0	66	864					A	125397088	G	A	125397088	2	1	79	1	0	0	0	0	0	0	0	1	16896	1164	41	2		2	UBC	12	125397088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94963	125397088	8454807	13943	24260											
DHX37	57647	broad.mit.edu	37	chr12	125432718	125432718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagaaggctctccgtacgGggctgcagcctgtggggcag	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000308736.2	-	26	3398	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_ENST00000544745.1_Silent_p.P887P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1100							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTCCGTACGGGGCTGCAGCC	0.627																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3298-3300)ccC>ccT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							36	34	34					12																	125432718		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125432718G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3300C>T	12.37:g.125432718G>A						DHX37_ENST00000544745.1_Silent_p.P887P	p.P1100P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	26	3398	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1100					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.3300C>T	CCDS9261.1																																																																																				0.627	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	171	0	0	0	1	0	25	171					A	125432718	G	A	125432718	2	1	79	1	0	0	0	0	0	0	0	1	4526	1219	43	2		2	DHX37	12	125432718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35630	125432718	8419177	13944	24261											
DHX37	57647	broad.mit.edu	37	chr12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggtgacacagcacccGcccccgctcggggcagtatg	14	17	0	1	rs376946837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3091-3093)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		G	TRP/ARG	0,4400		0,0,2200	23	24	24		3091	5.1	0.5	12		24	1,8597		0,1,4298	no	missense	DHX37	NM_032656.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1031/1158	125434989	1,12997	2200	4299	6499	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434989G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3091C>T	12.37:g.125434989G>A	ENSP00000311135:p.Arg1031Trp					DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	p.R1031W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1031					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3091C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	DHX37	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		23	125	0	0	0	1	0	23	125					A	125434989	G	A	125434989	3	1	79	1	0	0	0	0	1	0	0	0	4526	1086	38	1	402	1	DHX37	12	125434989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2271	125434989	8416906	13945	24262											
DHX37	57647	broad.mit.edu	37	chr12	125437016	125437016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccaagtggtcccccagGcctgccgtcacgatctgtcg	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000308736.2	-	21	2894	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_ENST00000544745.1_Silent_p.G719G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	932							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGTCCCCCAGGCCTGCCGTCA	0.672																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2794-2796)ggC>ggT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							56	45	49					12																	125437016		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125437016G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2796C>T	12.37:g.125437016G>A						DHX37_ENST00000544745.1_Silent_p.G719G	p.G932G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	21	2894	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		932					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2796C>T	CCDS9261.1																																																																																				0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		23	151	0	0	0	1	0	23	151					A	125437016	G	A	125437016	2	1	79	1	0	0	0	0	0	0	0	1	4526	1190	42	2		2	DHX37	12	125437016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	125437016	8414879	13946	24263											
AACS	65985	broad.mit.edu	37	chr12	125576018	125576018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaggcgatgctggctgcGgcaagcattggtgccatctg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	173					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(517-519)gcG>gcA		acetoacetyl-CoA synthetase							98	79	85					12																	125576018		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125576018G>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.519G>A	12.37:g.125576018G>A						AACS_ENST00000261686.6_Silent_p.A173A	p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	5	725	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		173					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.519G>A	CCDS9263.1																																																																																				0.572	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		61	245	0	0	0	1	0	61	245					A	125576018	G	A	125576018	2	1	79	1	0	0	0	0	0	0	0	1	9	1103	39	1		1	AACS	12	125576018	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139002	125576018	8275877	13947	24264											
TMEM132B	114795	broad.mit.edu	37	chr12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccgggaaggggacacgGccacctttttggtctctctg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(889-891)Gcc>Acc		transmembrane protein 132B							191	181	184					12																	125834834		1964	4134	6098	SO:0001583	missense	114795					integral to membrane		g.chr12:125834834G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.889G>A	12.37:g.125834834G>A	ENSP00000299308:p.Ala297Thr						p.A297T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	897	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.889G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	TMEM132B	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		203	863	0	0	0	1	0	203	863					A	125834834	G	A	125834834	3	1	79	1	0	0	0	0	1	0	0	0	16098	1203	42	2	895	2	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258816	125834834	8017061	13948	24265											
TMEM132B	114795	broad.mit.edu	37	chr12	126128621	126128621	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctacctccttcccaaaGgtttccaacaactgtgattc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTTCCCAAAGGTTTCCAACA	0.428																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.e6-1		transmembrane protein 132B							82	77	78					12																	126128621		1941	4150	6091	SO:0001630	splice_region_variant	114795					integral to membrane		g.chr12:126128621G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1423-1G>T	12.37:g.126128621G>T						TMEM132B_ENST00000535886.1_Splice_Site		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1430	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A2RRG8|Q8NA73|Q96JN9|Q96PY1	Splice_Site	SNP	ENST00000299308.3	37		CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856831	0.32791	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124694574	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	9.552000	0.98115	2.578000	0.87016	0.655000	0.94253	.		0.428	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	Intron	30	179	1	0	7.38237e-10	1	7.79401e-10	30	179					T	126128621	G	T	126128621	5	4	79	1	0	0	0	0	0	0	1	0	16098	1014	35	3	1444	3	TMEM132B	12	126128621	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293787	126128621	7723274	13949	24266											
TMEM132B	114795	broad.mit.edu	37	chr12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgcgtcttctgtctgGccattctggtcttcttgatc	9	12	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	911						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCTGTCTGGCCATTCTGGT	0.527																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2731-2733)Gcc>Tcc		transmembrane protein 132B							98	96	97					12																	126138750		2035	4221	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138750G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2731G>T	12.37:g.126138750G>T	ENSP00000299308:p.Ala911Ser					TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	p.A911S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		911					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2731G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282492	0.80692	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	.	0.093223	0.47093	N	0.000257	T	0.55862	0.1947	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.60895	-0.7172	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	911	Q14DG7	T132B_HUMAN	S	911;423	ENSP00000299308:A911S;ENSP00000440436:A423S	ENSP00000299308:A911S	A	+	1	0	TMEM132B	124704703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.576000	0.98192	2.543000	0.85770	0.655000	0.94253	GCC		0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		71	443	1	0	6.00099e-30	1	7.02477e-30	71	443					T	126138750	G	T	126138750	3	4	79	1	0	0	0	0	1	0	0	0	16098	1203	42	3	2765	3	TMEM132B	12	126138750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10129	126138750	7713145	13950	24267											
SLC15A4	121260	broad.mit.edu	37	chr12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaaaagcaaggccgaCgcagacagtggggatcgcat	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	233					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(697-699)Gtc>Atc		solute carrier family 15 (oligopeptide transporter), member 4							197	179	185					12																	129299465		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299465C>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.697G>A	12.37:g.129299465C>T	ENSP00000266771:p.Val233Ile					SLC15A4_ENST00000539703.1_5'UTR	p.V233I	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	736	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		233					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.697G>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	5.065	0.197674	0.09652	.	.	ENSG00000139370	ENST00000266771	T	0.04156	3.69	5.7	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.219518	0.47093	N	0.000258	T	0.01592	0.0051	N	0.01250	-0.93	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.54248	-0.8322	10	0.21540	T	0.41	.	6.7249	0.23350	0.0:0.27:0.0:0.73	.	233	Q8N697	S15A4_HUMAN	I	233	ENSP00000266771:V233I	ENSP00000266771:V233I	V	-	1	0	SLC15A4	127865418	1.000000	0.71417	0.438000	0.26821	0.203000	0.24098	1.962000	0.40442	0.232000	0.21100	0.591000	0.81541	GTC		0.517	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		112	510	0	0	0	1	0	112	510					T	129299465	C	T	129299465	3	4	79	1	0	0	0	0	1	0	0	0	14451	536	19	1	1064	1	SLC15A4	12	129299465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3160715	129299465	4552430	13951	24268											
GLT1D1	144423	broad.mit.edu	37	chr12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctagaggctgcagggCacgtgtgcgttttgaaggat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	31					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGCAGGGCACGTGTGCGT	0.463																																						ENST00000442111.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(91-93)Cac>Tac		glycosyltransferase 1 domain containing 1							137	141	140					12																	129360481		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360481C>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.91C>T	12.37:g.129360481C>T	ENSP00000394692:p.His31Tyr					GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR	p.H31Y			Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	179	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		31					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.91C>T		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319101	0.60524	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.49720	0.77;0.77;0.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.987;0.994	T	0.71424	-0.4597	10	0.51188	T	0.08	-28.2328	17.2721	0.87105	0.0:1.0:0.0:0.0	.	20;31	F5H088;Q96MS3-2	.;.	Y	31;31;20	ENSP00000394692:H31Y;ENSP00000281703:H31Y;ENSP00000438158:H20Y	ENSP00000281703:H31Y	H	+	1	0	GLT1D1	127926434	0.983000	0.35010	0.236000	0.24074	0.492000	0.33523	4.528000	0.60580	2.583000	0.87209	0.655000	0.94253	CAC		0.463	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		130	642	0	0	0	1	0	130	642					T	129360481	C	T	129360481	3	4	79	1	0	0	0	0	1	0	0	0	6494	710	25	2	97	2	GLT1D1	12	129360481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61016	129360481	4491414	13952	24269											
TMEM132D	121256	broad.mit.edu	37	chr12	129566325	129566325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatggtggtcatcccaagCtcctgccccatcaggatctg	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCCCAAGCTCCTGCCCCA	0.498																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1900-1902)gaG>gaA		transmembrane protein 132D							45	43	44					12																	129566325		2203	4299	6502	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566325C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1902G>A	12.37:g.129566325C>T						TMEM132D_ENST00000389441.4_Silent_p.E172E	p.E634E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2228	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	634					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1902G>A	CCDS9266.1																																																																																				0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		60	245	0	0	0	1	0	60	245					T	129566325	C	T	129566325	2	4	79	1	0	0	0	0	0	0	0	1	16099	796	28	2		2	TMEM132D	12	129566325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205844	129566325	4285570	13953	24270											
TMEM132D	121256	broad.mit.edu	37	chr12	130185005	130185005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcattaaatcctggggCaccacttgctcgatggagaa	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	106					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCCTGGGGCACCACTTGCT	0.502																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(316-318)gtG>gtA		transmembrane protein 132D							66	68	67					12																	130185005		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185005C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.318G>A	12.37:g.130185005C>T							p.V106V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	644	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	106					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.318G>A	CCDS9266.1																																																																																				0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		49	240	0	0	0	1	0	49	240					T	130185005	C	T	130185005	2	4	79	1	0	0	0	0	0	0	0	1	16099	697	25	2		2	TMEM132D	12	130185005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618680	130185005	3666890	13954	24271											
TMEM132D	121256	broad.mit.edu	37	chr12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatatcctggttggcctcCttcaggaagaaggagacgtc	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	63					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTTGGCCTCCTTCAGGAAGA	0.552																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(187-189)aaG>aaT		transmembrane protein 132D							81	65	71					12																	130185134		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185134C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.189G>T	12.37:g.130185134C>A	ENSP00000408581:p.Lys63Asn						p.K63N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	515	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	63					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.189G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594132	0.66219	.	.	ENSG00000151952	ENST00000422113	T	0.12879	2.64	5.33	2.5	0.30297	.	0.000000	0.64402	D	0.000007	T	0.35970	0.0950	M	0.85373	2.75	0.37480	D	0.915953	D	0.71674	0.998	D	0.69142	0.962	T	0.44802	-0.9304	9	.	.	.	-41.0956	10.0937	0.42462	0.0:0.738:0.0:0.262	.	63	Q14C87	T132D_HUMAN	N	63	ENSP00000408581:K63N	.	K	-	3	2	TMEM132D	128751087	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	1.239000	0.43787	0.555000	0.69702	AAG		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		46	185	1	0	5.48756e-27	1	6.34209e-27	46	185					A	130185134	C	A	130185134	3	1	79	1	0	0	0	0	1	0	0	0	16099	680	24	3	3142	3	TMEM132D	12	130185134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	130185134	3666761	13955	24272											
FZD10	11211	broad.mit.edu	37	chr12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgaggcagccatccAgttgcacgagttcgcgccgc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000229030.4	+	1	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FZD10_ENST00000539839.1_Silent_p.P34P|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	67	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)			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)		GCAGCCATCCAGTTGCACGAG	0.627																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(199-201)cAg>cGg		frizzled family receptor 10							45	43	43					12																	130647687		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.chr12:130647687A>G	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.200A>G	12.37:g.130647687A>G	ENSP00000229030:p.Gln67Arg					FZD10_ENST00000539839.1_Silent_p.P34P	p.Q67R			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	684	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		67			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.200A>G	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220771	0.39201	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.4	4.4	0.53042	Frizzled domain (5);	0.068546	0.64402	U	0.000019	T	0.64023	0.2561	L	0.31526	0.94	0.52099	D	0.999948	B	0.11235	0.004	B	0.16289	0.015	T	0.62134	-0.6918	10	0.52906	T	0.07	.	13.6359	0.62223	1.0:0.0:0.0:0.0	.	67	Q9ULW2	FZD10_HUMAN	R	67	ENSP00000229030:Q67R	ENSP00000229030:Q67R	Q	+	2	0	FZD10	129213640	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.993000	0.76245	1.613000	0.50231	0.459000	0.35465	CAG		0.627	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				83	284	0	0	0	1	0	83	284					G	130647687	A	G	130647687	3	3	79	1	0	0	0	0	1	0	0	0	6156	188	7	4	202	4	FZD10	12	130647687	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462553	130647687	3204208	13956	24273											
FZD10	11211	broad.mit.edu	37	chr12	130648444	130648444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctggtcctctactacttCggcatggccagctcgctgtg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000229030.4	+	1	1441	c.957C>T	c.(955-957)ttC>ttT	p.F319F	FZD10_ENST00000539839.1_Missense_Mutation_p.R287W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	319					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.F319F(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)		TCTACTACTTCGGCATGGCCA	0.647																																						ENST00000539839.1																			1	Substitution - coding silent(1)	p.F319F(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(859-861)Cgg>Tgg		frizzled family receptor 10							61	56	58					12																	130648444		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:130648444C>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.957C>T	12.37:g.130648444C>T						FZD10_ENST00000229030.4_Silent_p.F319F	p.R287W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1441	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.859C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081154	0.20309	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	0.604	0.17547	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65084	-0.6254	5	0.87932	D	0	.	9.8296	0.40932	0.0:0.53:0.0:0.47	.	.	.	.	W	287	.	ENSP00000438460:R287W	R	+	1	2	FZD10	129214397	0.978000	0.34361	1.000000	0.80357	0.984000	0.73092	0.155000	0.16362	0.187000	0.20147	-0.254000	0.11334	CGG		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	328	0	0	0	1	0	14	328					T	130648444	C	T	130648444	2	4	79	1	0	0	0	0	0	0	0	1	6156	883	31	1		1	FZD10	12	130648444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	130648444	3203451	13957	24274											
RIMBP2	23504	broad.mit.edu	37	chr12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtttggggacatggtgaGcgggtcgtagtcaaagagag	19	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	862	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		GACATGGTGAGCGGGTCGTAG	0.572																																						ENST00000261655.4																			0				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						c.(2584-2586)Ctc>Ttc		RIMS binding protein 2							87	91	89					12																	130898738		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898738G>A	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.2584C>T	12.37:g.130898738G>A	ENSP00000261655:p.Leu862Phe						p.L862F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	862			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2584C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654843	0.67472	.	.	ENSG00000060709	ENST00000261655	T	0.30448	1.53	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.156920	0.44285	D	0.000471	T	0.30386	0.0763	L	0.31476	0.935	0.80722	D	1	P	0.49307	0.922	P	0.52554	0.702	T	0.01982	-1.1235	10	0.14252	T	0.57	-30.3853	12.4072	0.55447	0.0:0.0:0.8317:0.1683	.	862	O15034	RIMB2_HUMAN	F	862	ENSP00000261655:L862F	ENSP00000261655:L862F	L	-	1	0	RIMBP2	129464691	0.997000	0.39634	0.899000	0.35326	0.990000	0.78478	2.452000	0.44961	2.117000	0.64856	0.650000	0.86243	CTC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		100	496	0	0	0	1	0	100	496					A	130898738	G	A	130898738	3	1	79	1	0	0	0	0	1	0	0	0	13413	971	34	2	598	2	RIMBP2	12	130898738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250294	130898738	2953157	13958	24275											
RIMBP2	23504	broad.mit.edu	37	chr12	130919324	130919324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtcgtccaccgaggcGcccctcctcttgaagtctgg	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919324G>A	ENST00000261655.4	-	11	2320	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	719					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		CCACCGAGGCGCCCCTCCTCT	0.642																																						ENST00000261655.4																			0				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						c.(2155-2157)ggC>ggT		RIMS binding protein 2							72	79	76					12																	130919324		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919324G>A	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.2157C>T	12.37:g.130919324G>A						RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	p.G719G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2320	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	719					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2157C>T	CCDS31925.1																																																																																				0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		38	637	0	0	0	1	0	38	637					A	130919324	G	A	130919324	2	1	79	1	0	0	0	0	0	0	0	1	13413	1074	38	1		1	RIMBP2	12	130919324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20586	130919324	2932571	13959	24276											
RIMBP2	23504	broad.mit.edu	37	chr12	130919411	130919411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctctctaggaagacGctccttttctctaacttgga	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919411G>A	ENST00000261655.4	-	11	2233	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	690					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		CTAGGAAGACGCTCCTTTTCT	0.597																																						ENST00000261655.4																			0				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						c.(2068-2070)agC>agT		RIMS binding protein 2							47	52	51					12																	130919411		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919411G>A	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.2070C>T	12.37:g.130919411G>A						RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	p.S690S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2233	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	690					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2070C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		85	356	0	0	0	1	0	85	356					A	130919411	G	A	130919411	2	1	79	1	0	0	0	0	0	0	0	1	13413	1078	38	1		1	RIMBP2	12	130919411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	130919411	2932484	13960	24277											
RIMBP2	23504	broad.mit.edu	37	chr12	130921635	130921635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcggggactccagaacttgCtaatggctttgattggggtg	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130921635C>A	ENST00000261655.4	-	10	1970	c.1807G>T	c.(1807-1809)Gca>Tca	p.A603S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	603	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				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)		CCAGAACTTGCTAATGGCTTT	0.647																																						ENST00000261655.4																			0				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						c.(1807-1809)Gca>Tca		RIMS binding protein 2							63	50	55					12																	130921635		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921635C>A	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.1807G>T	12.37:g.130921635C>A	ENSP00000261655:p.Ala603Ser					RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	p.A603S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1970	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	603			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1807G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564943	0.13498	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.63	2.6	0.31112	.	0.734998	0.13089	N	0.414720	T	0.29716	0.0742	M	0.76838	2.35	0.31546	N	0.659379	P;B;B	0.41393	0.748;0.383;0.008	B;B;B	0.38842	0.283;0.178;0.005	T	0.29822	-0.9999	10	0.22109	T	0.4	-4.4196	4.581	0.12259	0.1513:0.6093:0.1467:0.0928	.	511;511;603	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	S	603;511;511;511	ENSP00000261655:A603S;ENSP00000440347:A511S;ENSP00000439159:A511S	ENSP00000261655:A603S	A	-	1	0	RIMBP2	129487588	0.997000	0.39634	0.435000	0.26784	0.059000	0.15707	0.524000	0.22940	0.298000	0.22638	0.561000	0.74099	GCA		0.647	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	116	1	0	0.184627	1	0.18487	5	116					A	130921635	C	A	130921635	3	1	79	1	0	0	0	0	1	0	0	0	13413	797	28	3	1391	3	RIMBP2	12	130921635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	130921635	2930260	13961	24278											
GPR133	283383	broad.mit.edu	37	chr12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgcgtatgggggacaGgtcatctccaatgggttcaa	12	10	4	0	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000261654.5	+	5	943	c.384G>T	c.(382-384)caG>caT	p.Q128H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	128					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(382-384)caG>caT		G protein-coupled receptor 133							135	124	128					12																	131466502		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466502G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.384G>T	12.37:g.131466502G>T	ENSP00000261654:p.Gln128His					GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	p.Q128H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	943	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		128					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.384G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	8.347	0.830091	0.16749	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74106	-0.81;-0.81	4.13	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.072165	0.56097	D	0.000026	T	0.69620	0.3131	M	0.77616	2.38	0.80722	D	1	P;B	0.35551	0.509;0.267	B;B	0.35470	0.203;0.127	T	0.73452	-0.3978	10	0.87932	D	0	.	4.6701	0.12685	0.3171:0.0:0.6829:0.0	.	160;128	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	128;160	ENSP00000261654:Q128H;ENSP00000444425:Q160H	ENSP00000261654:Q128H	Q	+	3	2	GPR133	130032455	1.000000	0.71417	0.969000	0.41365	0.116000	0.19942	0.698000	0.25571	1.996000	0.58369	0.558000	0.71614	CAG		0.512	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		95	398	1	0	2.34548e-53	1	2.9228e-53	95	398					T	131466502	G	T	131466502	3	4	79	1	0	0	0	0	1	0	0	0	6672	991	35	3	402	3	GPR133	12	131466502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	544867	131466502	2385393	13962	24279											
GPR133	283383	broad.mit.edu	37	chr12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctcttcccaaggatcgCggaggccatgcatcaccagg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000261654.5	+	13	1896	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	446					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1336-1338)gCg>gTg		G protein-coupled receptor 133							96	84	88					12																	131498749		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131498749C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1337C>T	12.37:g.131498749C>T	ENSP00000261654:p.Ala446Val					GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	p.A446V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	13	1896	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		446					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1337C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980784	0.34942	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.43688	0.95;0.94;0.95	4.43	3.52	0.40303	.	0.642937	0.15993	N	0.234703	T	0.32526	0.0832	L	0.53249	1.67	0.09310	N	0.999992	B;B	0.33120	0.342;0.398	B;B	0.19391	0.025;0.025	T	0.20538	-1.0272	10	0.44086	T	0.13	.	8.8773	0.35354	0.0:0.8878:0.0:0.1122	.	478;446	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	446;478;142;132	ENSP00000261654:A446V;ENSP00000444425:A478V;ENSP00000365872:A132V	ENSP00000261654:A446V	A	+	2	0	GPR133	130064702	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	1.699000	0.37804	2.183000	0.69458	0.645000	0.84053	GCG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		53	300	0	0	0	1	0	53	300					T	131498749	C	T	131498749	3	4	79	1	0	0	0	0	1	0	0	0	6672	768	27	1	1387	1	GPR133	12	131498749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32247	131498749	2353146	13963	24280											
GPR133	283383	broad.mit.edu	37	chr12	131561384	131561384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaccaacagcagcaaCcgagtcttcgtgtactgcgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000261654.5	+	14	2071	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000543617.1_Silent_p.N23N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	504					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1510-1512)aaC>aaT		G protein-coupled receptor 133							207	161	176					12																	131561384		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131561384C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1512C>T	12.37:g.131561384C>T						GPR133_ENST00000543617.1_Silent_p.N23N|GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N	p.N504N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	14	2071	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		504					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1512C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644332	0.03531	.	.	ENSG00000111452	ENST00000335486	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67921	-0.5545	4	.	.	.	.	13.4585	0.61212	0.0:1.0:0.0:0.0	.	.	.	.	I	26	.	.	T	+	2	0	GPR133	130127337	0.921000	0.31238	0.598000	0.28837	0.110000	0.19582	1.420000	0.34804	1.848000	0.53677	0.491000	0.48974	ACC		0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		72	426	0	0	0	1	0	72	426					T	131561384	C	T	131561384	2	4	79	1	0	0	0	0	0	0	0	1	6672	506	18	2		2	GPR133	12	131561384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62635	131561384	2290511	13964	24281											
GPR133	283383	broad.mit.edu	37	chr12	131622691	131622691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttcaaggtgagagccGccttcaagcacaaaaccaag	9	13	2	1	rs368828722		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622691G>A	ENST00000261654.5	+	24	3005	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000376682.4_Missense_Mutation_p.A502T|GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	816					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGAGAGCCGCCTTCAAGCA	0.597																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2446-2448)Gcc>Acc		G protein-coupled receptor 133		G	THR/ALA	0,4406		0,0,2203	78	65	69		2446	4.6	1	12		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR133	NM_198827.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	816/875	131622691	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622691G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2446G>A	12.37:g.131622691G>A	ENSP00000261654:p.Ala816Thr					GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.A502T	p.A816T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3005	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		816					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2446G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950788	0.73787	0.0	1.16E-4	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.56444	1.22;0.46;0.46;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56287	0.975;0.627;0.946	P;B;P	0.54060	0.741;0.081;0.699	T	0.54139	-0.8338	10	0.42905	T	0.14	.	14.9569	0.71124	0.0:0.0:1.0:0.0	.	848;169;816	B7ZLF7;Q9NSM3;Q6QNK2	.;.;GP133_HUMAN	T	816;848;502;335	ENSP00000261654:A816T;ENSP00000444425:A848T;ENSP00000365872:A502T;ENSP00000438021:A335T	ENSP00000261654:A816T	A	+	1	0	GPR133	130188644	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.661000	0.83786	2.106000	0.64143	0.561000	0.74099	GCC		0.597	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		60	259	0	0	0	1	0	60	259					A	131622691	G	A	131622691	3	1	79	1	0	0	0	0	1	0	0	0	6672	1087	38	1	2540	1	GPR133	12	131622691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61307	131622691	2229204	13965	24282											
GPR133	283383	broad.mit.edu	37	chr12	131622774	131622774	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcccttccactcggacctCgtgagtgcagcctccataaa	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	ENST00000261654.5	+	24	3088	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	GPR133_ENST00000535015.1_Splice_Site_p.L875L|GPR133_ENST00000376682.4_Splice_Site_p.L529L|GPR133_ENST00000543617.1_Splice_Site_p.L362L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	843					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)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACTCGGACCTCGTGAGTGCAG	0.622																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e24+1		G protein-coupled receptor 133							75	59	64					12																	131622774		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622774C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2529+1C>T	12.37:g.131622774C>T						GPR133_ENST00000543617.1_Splice_Site_p.L362_splice|GPR133_ENST00000535015.1_Splice_Site_p.L875_splice|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Splice_Site_p.L529_splice	p.L843_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3088	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		843					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.2529_splice	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	0.495	-0.873579	0.02570	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.46	-8.92	0.00774	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	8.6716	0.34154	0.0:0.2184:0.1964:0.5852	.	.	.	.	L	197	.	.	S	+	2	0	GPR133	130188727	0.001000	0.12720	0.002000	0.10522	0.484000	0.33280	-1.490000	0.02304	-2.245000	0.00705	-0.258000	0.10820	TCA		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Silent	24	181	0	0	0	1	0	24	181					T	131622774	C	T	131622774	5	4	79	1	0	0	0	0	0	0	1	0	6672	898	31	1	2623	1	GPR133	12	131622774	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	131622774	2229121	13966	24283											
SFRS8	6433	broad.mit.edu	37	chr12	132198648	132198648	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtcacctgcatgacctttCtgagtacgatgctgagtatt	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132198648C>A	ENST00000261674.4	+	2	392	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SFSWAP_ENST00000541286.1_Missense_Mutation_p.S84Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	84					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CATGACCTTTCTGAGTACGAT	0.458																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(250-252)tCt>tAt		splicing factor, suppressor of white-apricot homolog (Drosophila)							122	106	112					12																	132198648		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132198648C>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.251C>A	12.37:g.132198648C>A	ENSP00000261674:p.Ser84Tyr					SFSWAP_ENST00000541286.1_Missense_Mutation_p.S84Y	p.S84Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			2	392	+			84					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.251C>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320295	0.81469	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000541286	T;T	0.24538	1.85;1.85	5.95	5.95	0.96441	Splicing factor, suppressor of white apricot (1);	0.111039	0.64402	D	0.000005	T	0.39572	0.1083	L	0.46614	1.455	0.80722	D	1	P;P	0.46064	0.845;0.872	P;P	0.50970	0.6;0.655	T	0.04041	-1.0982	10	0.66056	D	0.02	-24.633	20.3932	0.98965	0.0:1.0:0.0:0.0	.	84;84	F5H6B8;Q12872	.;SFSWA_HUMAN	Y	84;21;84	ENSP00000261674:S84Y;ENSP00000437738:S84Y	ENSP00000261674:S84Y	S	+	2	0	SFSWAP	130764601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.824000	0.97209	0.655000	0.94253	TCT		0.458	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		9	293	1	0	2.17888e-05	1	2.22852e-05	9	293					A	132198648	C	A	132198648	3	1	79	1	0	0	0	0	1	0	0	0	14233	913	32	3	257	3	SFRS8	12	132198648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	575874	132198648	1653247	13967	24284											
MMP17	4326	broad.mit.edu	37	chr12	132329707	132329707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcactcactttgacgCggtggcccagatccggggtg	14	12	1	2	rs369800119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132329707C>T	ENST00000360564.1	+	7	1115	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	MMP17_ENST00000535291.1_Missense_Mutation_p.A254V|MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535004.1_5'Flank	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	338					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CACTTTGACGCGGTGGCCCAG	0.667																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1012-1014)gCg>gTg		matrix metallopeptidase 17 (membrane-inserted)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	114	107	109		1013	4.1	0.7	12		109	0,8600		0,0,4300	no	missense	MMP17	NM_016155.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	338/604	132329707	1,13005	2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132329707C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1013C>T	12.37:g.132329707C>T	ENSP00000353767:p.Ala338Val					MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.A254V	p.A338V	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	7	1115	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		338			Hemopexin-like 1.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1013C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724239	0.89298	2.27E-4	0.0	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.18810	2.19;2.19;2.19	4.12	4.12	0.48240	Hemopexin/matrixin (2);	0.133831	0.49916	D	0.000133	T	0.55353	0.1915	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.72144	-0.4379	10	0.72032	D	0.01	.	16.5607	0.84565	0.0:1.0:0.0:0.0	.	338	Q9ULZ9	MMP17_HUMAN	V	338;254;179	ENSP00000353767:A338V;ENSP00000441106:A254V;ENSP00000442104:A179V	ENSP00000353767:A338V	A	+	2	0	MMP17	130895660	1.000000	0.71417	0.703000	0.30354	0.678000	0.39670	5.491000	0.66887	2.126000	0.65437	0.579000	0.79373	GCG		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		12	325	0	0	0	1	0	12	325					T	132329707	C	T	132329707	3	4	79	1	0	0	0	0	1	0	0	0	9697	768	27	1	1039	1	MMP17	12	132329707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131059	132329707	1522188	13968	24285											
MMP17	4326	broad.mit.edu	37	chr12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacccgcgccccgtctccGacttcagcctcccgcctggc	9	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	423					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCCCGTCTCCGACTTCAGCCT	0.602																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1267-1269)Gac>Aac		matrix metallopeptidase 17 (membrane-inserted)							100	104	103					12																	132334409		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334409G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1267G>A	12.37:g.132334409G>A	ENSP00000353767:p.Asp423Asn					MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.D339N	p.D423N	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1369	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		423			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1267G>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093522	0.94149	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.13442	-1.0509	10	0.66056	D	0.02	.	17.1756	0.86841	0.0:0.0:1.0:0.0	.	423	Q9ULZ9	MMP17_HUMAN	N	423;339;264;53	ENSP00000353767:D423N;ENSP00000441106:D339N;ENSP00000442104:D264N;ENSP00000439542:D53N	ENSP00000353767:D423N	D	+	1	0	MMP17	130900362	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	9.750000	0.98875	2.054000	0.61138	0.471000	0.43371	GAC		0.602	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		158	705	0	0	0	1	0	158	705					A	132334409	G	A	132334409	3	1	79	1	0	0	0	0	1	0	0	0	9697	1058	37	1	1301	1	MMP17	12	132334409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4702	132334409	1517486	13969	24286											
ULK1	8408	broad.mit.edu	37	chr12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaaggcatcatccaccgcGacctgaaaccgcagaacatc	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(412-414)Gac>Aac		unc-51 like autophagy activating kinase 1							26	26	26					12																	132393284		2197	4298	6495	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132393284G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.412G>A	12.37:g.132393284G>A	ENSP00000324560:p.Asp138Asn						p.D138N	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	6	763	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		138			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.412G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097301	0.97281	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	D;D;D	0.92965	-3.14;-3.14;-3.14	5.51	5.51	0.81932	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	0.97508	0.9184	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98391	1.0563	10	0.87932	D	0	-51.9126	19.4219	0.94725	0.0:0.0:1.0:0.0	.	138	O75385	ULK1_HUMAN	N	138;55;32	ENSP00000324560:D138N;ENSP00000438953:D55N;ENSP00000444983:D32N	ENSP00000324560:D138N	D	+	1	0	ULK1	130959237	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	9.832000	0.99423	2.593000	0.87608	0.455000	0.32223	GAC		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			50	143	0	0	0	1	0	50	143					A	132393284	G	A	132393284	3	1	79	1	0	0	0	0	1	0	0	0	17029	1058	37	1	434	1	ULK1	12	132393284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58875	132393284	1458611	13970	24287											
ULK1	8408	broad.mit.edu	37	chr12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctggccctactgcaacGcaaccacaaggaccgcatgg	10	16	0	0	rs377295019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(781-783)cGc>cAc		unc-51 like autophagy activating kinase 1		G	HIS/ARG	0,4406		0,0,2203	34	45	41		782	5.3	0.9	12		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	ULK1	NM_003565.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	261/1051	132394520	1,13001	2203	4298	6501	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132394520G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.782G>A	12.37:g.132394520G>A	ENSP00000324560:p.Arg261His						p.R261H	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	10	1133	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		261			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.782G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381883	0.82792	0.0	1.16E-4	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.25250	1.81;1.81	5.29	5.29	0.74685	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	0.64402	D	0.000001	T	0.46521	0.1397	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42481	-0.9449	10	0.87932	D	0	-37.8696	17.7077	0.88313	0.0:0.0:1.0:0.0	.	261	O75385	ULK1_HUMAN	H	261;178	ENSP00000324560:R261H;ENSP00000438953:R178H	ENSP00000324560:R261H	R	+	2	0	ULK1	130960473	1.000000	0.71417	0.943000	0.38184	0.142000	0.21351	4.701000	0.61810	2.474000	0.83562	0.313000	0.20887	CGC		0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			41	187	0	0	0	1	0	41	187					A	132394520	G	A	132394520	3	1	79	1	0	0	0	0	1	0	0	0	17029	1087	38	1	820	1	ULK1	12	132394520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1236	132394520	1457375	13971	24288											
ULK1	8408	broad.mit.edu	37	chr12	132405897	132405897	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggcgctgctgactggcatCtgtgcctgacctttctggcc	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1048					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(3142-3144)atC>atA		unc-51 like autophagy activating kinase 1							119	116	117					12																	132405897		2203	4300	6503	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132405897C>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3144C>A	12.37:g.132405897C>A						ULK1_ENST00000540647.1_Silent_p.I293I	p.I1048I	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	28	3495	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1048					Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.3144C>A	CCDS9274.1																																																																																				0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			217	818	1	0	3.56531e-90	1	4.57673e-90	217	818					A	132405897	C	A	132405897	2	1	79	1	0	0	0	0	0	0	0	1	17029	903	32	3		3	ULK1	12	132405897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11377	132405897	1445998	13972	24289											
PUS1	80324	broad.mit.edu	37	chr12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagggtgaagggccagaGcttcatgatgcatcagatcc	13	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000376649.3	+	5	1363	c.863G>A	c.(862-864)aGc>aAc	p.S288N	PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000542167.2_Missense_Mutation_p.S235N	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(703-705)aGc>aAc		pseudouridylate synthase 1							148	142	144					12																	132426155		2203	4300	6503	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426155G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.863G>A	12.37:g.132426155G>A	ENSP00000365837:p.Ser288Asn					PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000376649.3_Missense_Mutation_p.S288N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N	p.S235N			Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1457	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		288					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.704G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033607	0.93575	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.5566	18.6497	0.91427	0.0:0.0:1.0:0.0	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	N	260;288;260;260;235	ENSP00000392451:S260N;ENSP00000365837:S288N;ENSP00000324726:S260N;ENSP00000400032:S260N;ENSP00000438948:S235N	ENSP00000324726:S260N	S	+	2	0	PUS1	130992108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.405000	0.81733	0.491000	0.48974	AGC		0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		133	584	0	0	0	1	0	133	584					A	132426155	G	A	132426155	3	1	79	1	0	0	0	0	1	0	0	0	12880	971	34	2	881	2	PUS1	12	132426155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20258	132426155	1425740	13973	24290											
EP400	57634	broad.mit.edu	37	chr12	132475998	132475998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcattacaggaaagttcTctggtaagtttggggttgtt	13	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000332482.4_Silent_p.S855S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000330386.6_Silent_p.S892S			Q96L91	EP400_HUMAN	E1A binding protein p400	928					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2782-2784)tcT>tcC		E1A binding protein p400							167	170	169					12																	132475998		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132475998T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2784T>C	12.37:g.132475998T>C						EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S	p.S928S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	11	2893	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	928					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.2784T>C																																																																																					0.488	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		94	463	0	0	0	1	0	94	463					C	132475998	T	C	132475998	2	2	79	1	0	0	0	0	0	0	0	1	5167	1538	54	4		4	EP400	12	132475998	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49843	132475998	1375897	13974	24291											
EP400	57634	broad.mit.edu	37	chr12	132498065	132498065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgatcgactcgccGctgcacaataccttcctgga	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000332482.4_Silent_p.P1177P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000330386.6_Silent_p.P1214P			Q96L91	EP400_HUMAN	E1A binding protein p400	1250	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3748-3750)ccG>ccA		E1A binding protein p400							88	88	88					12																	132498065		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132498065G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3750G>A	12.37:g.132498065G>A						EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P	p.P1250P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	3859	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1250			Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.3750G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		110	386	0	0	0	1	0	110	386					A	132498065	G	A	132498065	2	1	79	1	0	0	0	0	0	0	0	1	5167	1074	38	1		1	EP400	12	132498065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22067	132498065	1353830	13975	24292											
EP400	57634	broad.mit.edu	37	chr12	132502101	132502101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaggaggccttgaagagCgggcactttgtcaacgtcct	12	11	2	2	rs540244111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000332482.4_Silent_p.S1278S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000330386.6_Silent_p.S1315S			Q96L91	EP400_HUMAN	E1A binding protein p400	1351	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4051-4053)agC>agT		E1A binding protein p400							89	83	85					12																	132502101		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502101C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4053C>T	12.37:g.132502101C>T						EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S	p.S1351S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4162	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1351			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4053C>T																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		81	413	0	0	0	1	0	81	413					T	132502101	C	T	132502101	2	4	79	1	0	0	0	0	0	0	0	1	5167	767	27	1		1	EP400	12	132502101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4036	132502101	1349794	13976	24293											
EP400	57634	broad.mit.edu	37	chr12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaaagctcaggagtgGtgcgataggatcgggagatg	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*			Q96L91	EP400_HUMAN	E1A binding protein p400	2006	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGGAGTGGTGCGATAGGA	0.507																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6016-6018)tgG>tgA		E1A binding protein p400							150	147	148					12																	132516653		2203	4300	6503	SO:0001587	stop_gained	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132516653G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6018G>A	12.37:g.132516653G>A	ENSP00000333602:p.Trp2006*					EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*	p.W2006*			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6127	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2006			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.6018G>A		.	.	.	.	.	.	.	.	.	.	G	46	12.503708	0.99673	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	2006;1970;1969;1933;1889;1970	.	ENSP00000330620:W1889X	W	+	3	0	EP400	131082606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.445000	0.66594	2.793000	0.96121	0.563000	0.77884	TGG		0.507	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	628	0	0	0	1	0	20	628					A	132516653	G	A	132516653	4	1	79	1	0	0	0	0	0	1	0	0	5167	1270	44	2	6021	2	EP400	12	132516653	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14552	132516653	1335242	13977	24294											
EP400	57634	broad.mit.edu	37	chr12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggaattattccatacttCtattgagcaagaaaaggaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000332482.4_Missense_Mutation_p.S2103F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F			Q96L91	EP400_HUMAN	E1A binding protein p400	2176					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6526-6528)tCt>tTt		E1A binding protein p400							46	46	46					12																	132528242		2202	4296	6498	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132528242C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6527C>T	12.37:g.132528242C>T	ENSP00000333602:p.Ser2176Phe					EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F	p.S2176F			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	35	6636	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2176					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6527C>T		.	.	.	.	.	.	.	.	.	.	C	4.909	0.168950	0.09339	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.72;-2.71;-2.72;-2.72;-2.72	5.74	5.74	0.90152	.	0.421443	0.28803	N	0.014087	D	0.92424	0.7595	M	0.73962	2.25	0.09310	N	1	P;P;P	0.50617	0.937;0.937;0.937	P;P;P	0.49999	0.628;0.628;0.628	D	0.87876	0.2674	10	0.54805	T	0.06	.	14.739	0.69440	0.1446:0.8554:0.0:0.0	.	2140;2059;2139	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2176;2140;2139;2103;2059;2140	ENSP00000333602:S2176F;ENSP00000374212:S2140F;ENSP00000374213:S2139F;ENSP00000331737:S2103F;ENSP00000330620:S2059F	ENSP00000330620:S2059F	S	+	2	0	EP400	131094195	0.969000	0.33509	0.024000	0.17045	0.219000	0.24729	4.482000	0.60257	2.712000	0.92718	0.563000	0.77884	TCT		0.289	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		23	162	0	0	0	1	0	23	162					T	132528242	C	T	132528242	3	4	79	1	0	0	0	0	1	0	0	0	5167	913	32	2	6546	2	EP400	12	132528242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11589	132528242	1323653	13978	24295											
EP400	57634	broad.mit.edu	37	chr12	132554069	132554069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagatcaccacccctggCgcgcagcagaaggttgccta	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000332482.4_Silent_p.G2931G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000330386.6_Silent_p.G2887G			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(9010-9012)ggC>ggT		E1A binding protein p400							74	75	75					12																	132554069		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132554069C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9012C>T	12.37:g.132554069C>T						EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000332482.4_Silent_p.G2931G	p.G3004G			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	52	9121	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3004					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.9012C>T																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		127	572	0	0	0	1	0	127	572					T	132554069	C	T	132554069	2	4	79	1	0	0	0	0	0	0	0	1	5167	755	27	1		1	EP400	12	132554069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25827	132554069	1297826	13979	24296											
EP400	57634	broad.mit.edu	37	chr12	132561978	132561978	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtggcgctcacgcaggcGacggcggccgggcagcaggt	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	EP400_ENST00000332482.4_Silent_p.A3007A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000389562.2_Silent_p.A3043A|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.A2963A			Q96L91	EP400_HUMAN	E1A binding protein p400	3080					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(9238-9240)gcG>gcA		E1A binding protein p400							41	46	44					12																	132561978		2187	4272	6459	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132561978G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9240G>A	12.37:g.132561978G>A						EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A	p.A3080A			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	54	9349	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3080					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.9240G>A																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	468	0	0	0	1	0	18	468					A	132561978	G	A	132561978	2	1	79	1	0	0	0	0	0	0	0	1	5167	1045	37	1		1	EP400	12	132561978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7909	132561978	1289917	13980	24297											
DDX51	317781	broad.mit.edu	37	chr12	132625245	132625245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtgcaggacgaccagCggcttagagctgaggctgca	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	492					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1474-1476)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63	75	71					12																	132625245		2071	4207	6278	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625245C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1476G>A	12.37:g.132625245C>T							p.P492P	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	10	1514	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	492					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1476G>A	CCDS41865.1																																																																																				0.657	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		31	354	0	0	0	1	0	31	354					T	132625245	C	T	132625245	2	4	79	1	0	0	0	0	0	0	0	1	4380	755	27	1		1	DDX51	12	132625245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63267	132625245	1226650	13981	24298											
DDX51	317781	broad.mit.edu	37	chr12	132626412	132626412	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacgttttctggacgaggctCtcctgctccttggccagaga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(976-978)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63	64	63					12																	132626412		1949	4148	6097	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626412C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.978G>A	12.37:g.132626412C>T							p.E326E	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	6	1016	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	326			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.978G>A	CCDS41865.1																																																																																				0.577	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		45	227	0	0	0	1	0	45	227					T	132626412	C	T	132626412	2	4	79	1	0	0	0	0	0	0	0	1	4380	912	32	2		2	DDX51	12	132626412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1167	132626412	1225483	13982	24299											
DDX51	317781	broad.mit.edu	37	chr12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggcacctggaaagtaggAcgagatgccgtgtgcccgca	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	220					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(658-660)Tcc>Ccc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							61	68	65					12																	132627285		2075	4197	6272	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627285A>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.658T>C	12.37:g.132627285A>G	ENSP00000380495:p.Ser220Pro						p.S220P	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	696	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	220					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.658T>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168370	0.38315	.	.	ENSG00000185163	ENST00000397333	T	0.02103	4.45	4.57	0.326	0.15908	DEAD-like helicase (1);	0.501813	0.22809	N	0.055367	T	0.03915	0.0110	M	0.80746	2.51	0.22468	N	0.99908	P	0.44986	0.847	B	0.42738	0.396	T	0.32052	-0.9921	10	0.35671	T	0.21	-19.5276	5.8345	0.18599	0.5219:0.3214:0.0:0.1567	.	220	Q8N8A6	DDX51_HUMAN	P	220	ENSP00000380495:S220P	ENSP00000380495:S220P	S	-	1	0	DDX51	131193238	0.380000	0.25131	0.325000	0.25375	0.683000	0.39861	0.895000	0.28363	0.111000	0.17947	0.402000	0.26972	TCC		0.627	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		73	302	0	0	0	1	0	73	302					G	132627285	A	G	132627285	3	3	79	1	0	0	0	0	1	0	0	0	4380	275	10	4	1394	4	DDX51	12	132627285	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	873	132627285	1224610	13983	24300											
NOC4L	79050	broad.mit.edu	37	chr12	132636135	132636135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcctttcatctgtaacCtgctgcgccggcaccctgcc	8	18	2	0	rs373511960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636135C>T	ENST00000330579.1	+	12	1221	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	NOC4L_ENST00000538784.1_Silent_p.L9L|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	394					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CATCTGTAACCTGCTGCGCCG	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		13210	0.0		0.001	False		,,,				2504	0.0					ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1180-1182)Ctg>Ttg		nucleolar complex associated 4 homolog (S. cerevisiae)		C		1,4367		0,1,2183	18	21	20		1180	0.8	1	12		20	2,8556		0,2,4277	no	coding-synonymous	NOC4L	NM_024078.1		0,3,6460	TT,TC,CC		0.0234,0.0229,0.0232		394/517	132636135	3,12923	2184	4279	6463	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636135C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1180C>T	12.37:g.132636135C>T						NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.L9L	p.L394L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	12	1221	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		394					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1180C>T	CCDS9277.1																																																																																				0.736	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		6	141	0	0	0	1	0	6	141					T	132636135	C	T	132636135	2	4	79	1	0	0	0	0	0	0	0	1	10557	680	24	2		2	NOC4L	12	132636135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8850	132636135	1215760	13984	24301											
NOC4L	79050	broad.mit.edu	37	chr12	132636673	132636673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgtccaaagccgccagCgtcatcaaccaggccctgtc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	454					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1360-1362)agC>agT		nucleolar complex associated 4 homolog (S. cerevisiae)							40	33	36					12																	132636673		2196	4288	6484	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636673C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1362C>T	12.37:g.132636673C>T						NOC4L_ENST00000538784.1_Silent_p.S69S	p.S454S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	14	1403	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		454					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1362C>T	CCDS9277.1																																																																																				0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		28	153	0	0	0	1	0	28	153					T	132636673	C	T	132636673	2	4	79	1	0	0	0	0	0	0	0	1	10557	767	27	1		1	NOC4L	12	132636673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	132636673	1215222	13985	24302											
NOC4L	79050	broad.mit.edu	37	chr12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgtcatcaaccaggCcctgtccatgcctgaggtca	10	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	459					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1375-1377)gCc>gTc		nucleolar complex associated 4 homolog (S. cerevisiae)							42	35	38					12																	132636687		2198	4290	6488	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636687C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1376C>T	12.37:g.132636687C>T	ENSP00000328854:p.Ala459Val					NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	p.A459V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	14	1417	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		459					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1376C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948946	0.18356	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.30448	1.53;1.53	4.59	-2.23	0.06930	.	0.527270	0.19773	N	0.106394	T	0.15305	0.0369	N	0.22421	0.69	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.41790	T	0.15	-3.0191	5.1389	0.14948	0.1287:0.4935:0.0:0.3778	.	459	Q9BVI4	NOC4L_HUMAN	V	459;74	ENSP00000328854:A459V;ENSP00000443336:A74V	ENSP00000328854:A459V	A	+	2	0	NOC4L	131202640	0.088000	0.21588	0.006000	0.13384	0.280000	0.26924	0.526000	0.22971	-0.980000	0.03524	0.478000	0.44815	GCC		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		24	152	0	0	0	1	0	24	152					T	132636687	C	T	132636687	3	4	79	1	0	0	0	0	1	0	0	0	10557	739	26	2	1430	2	NOC4L	12	132636687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	132636687	1215208	13986	24303											
GALNT9	50614	broad.mit.edu	37	chr12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttggacatctccacctCcaggcagcggcccgtggccc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	569	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1705-1707)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							54	64	60					12																	132681759		2070	4212	6282	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132681759C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1705G>A	12.37:g.132681759C>T	ENSP00000329846:p.Glu569Lys					GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	p.E569K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	11	1704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	569			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1705G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	34|34	5.330857|5.330857	0.95733|0.95733	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.42905|.	T|.	0.14|.	.|.	17.0974|17.0974	0.86639|0.86639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;569;426|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	203;569;320;203|341	ENSP00000380488:E203K;ENSP00000329846:E569K;ENSP00000439745:E320K;ENSP00000440544:E203K|.	ENSP00000329846:E569K|.	E|G	-|-	1|2	0|0	GALNT9|GALNT9	131247712|131247712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.545000|7.545000	0.82128|0.82128	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|GGA		0.622	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		55	281	0	0	0	1	0	55	281					T	132681759	C	T	132681759	3	4	79	1	0	0	0	0	1	0	0	0	6248	864	30	2	110	2	GALNT9	12	132681759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45072	132681759	1170136	13987	24304											
P2RX2	22953	broad.mit.edu	37	chr12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggggcagcgtgttcaGcatcatcaccagggtcgagg	16	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	109					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCGTGTTCAGCATCATCACC	0.741																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(325-327)aGc>aTc		purinergic receptor P2X, ligand-gated ion channel, 2							14	17	16					12																	133196281		2191	4279	6470	SO:0001583	missense	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196281G>T	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.326G>T	12.37:g.133196281G>T	ENSP00000373762:p.Ser109Ile					P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron	p.S109I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	363	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	109					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.326G>T	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.049789|3.049789	0.55218|0.55218	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	4.03|4.03	3.09|3.09	0.35607|0.35607	.|.	.|0.141387	.|0.64402	.|D	.|0.000007	T|T	0.08313|0.08313	0.0207|0.0207	M|M	0.61703|0.61703	1.905|1.905	0.42033|0.42033	D|D	0.991037|0.991037	.|P;D;P;P	.|0.53745	.|0.837;0.962;0.837;0.646	.|B;P;B;B	.|0.46825	.|0.334;0.528;0.416;0.225	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.72032	.|D	.|0.01	-32.2742|-32.2742	8.6119|8.6119	0.33808|0.33808	0.0:0.2552:0.6078:0.137|0.0:0.2552:0.6078:0.137	.|.	.|109;109;109;109	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|I	120;95;65|109	.|ENSP00000373762:S109I;ENSP00000343339:S109I;ENSP00000345095:S109I	.|ENSP00000343339:S109I	A|S	+|+	1|2	0|0	P2RX2|P2RX2	131706354|131706354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	3.291000|3.291000	0.51764|0.51764	2.072000|2.072000	0.62099|0.62099	0.511000|0.511000	0.50034|0.50034	GCA|AGC		0.741	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			35	170	1	0	3.66082e-28	1	4.25431e-28	35	170					T	133196281	G	T	133196281	3	4	79	1	0	0	0	0	1	0	0	0	11382	971	34	3	336	3	P2RX2	12	133196281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	514522	133196281	655614	13988	24305											
POLE	5426	broad.mit.edu	37	chr12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgtggatggtgagggCgaagtctcccgcgcagctgc	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			2	Substitution - Missense(2)	p.A2243S(2)	lung(2)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6727-6729)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							96	95	96					12																	133201511		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201511C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6727G>A	12.37:g.133201511C>T	ENSP00000322570:p.Ala2243Thr					POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	p.A2243T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	48	6770	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2243					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6727G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		39	186	0	0	0	1	0	39	186					T	133201511	C	T	133201511	3	4	79	1	0	0	0	0	1	0	0	0	12238	768	27	1	141	1	POLE	12	133201511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5230	133201511	650384	13989	24306											
POLE	5426	broad.mit.edu	37	chr12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacacacagcccaggTgcaccagggcccggaacagt	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1440					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACAGCCCAGGTGCACCAGGGC	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4318-4320)cAc>cGc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141	133	136					12																	133220118		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220118T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4319A>G	12.37:g.133220118T>C	ENSP00000322570:p.His1440Arg					POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	p.H1440R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4362	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1440					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4319A>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997892	0.35226	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.16324	2.35;2.35;2.35	5.87	4.74	0.60224	.	0.387057	0.31936	N	0.006830	T	0.07954	0.0199	N	0.05199	-0.095	0.25251	N	0.989672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.48119	T	0.1	.	6.5082	0.22206	0.1376:0.0728:0.0:0.7895	.	1413;1440	F5H1D6;Q07864	.;DPOE1_HUMAN	R	1440;1451;1413	ENSP00000322570:H1440R;ENSP00000406383:H1451R;ENSP00000445753:H1413R	ENSP00000322570:H1440R	H	-	2	0	POLE	131730191	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.734000	0.47368	1.087000	0.41251	0.524000	0.50904	CAC		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		176	865	0	0	0	1	0	176	865					C	133220118	T	C	133220118	3	2	79	1	0	0	0	0	1	0	0	0	12238	1696	59	4	2605	4	POLE	12	133220118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18607	133220118	631777	13990	24307											
POLE	5426	broad.mit.edu	37	chr12	133225890	133225890	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggatcaaggtctatAcctgcacaatctgccacgga	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAGGTCTATACCTGCACAAT	0.652								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.e31+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							29	27	28					12																	133225890		2203	4300	6503	SO:0001630	splice_region_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225890A>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4005+1T>C	12.37:g.133225890A>G						POLE_ENST00000535270.1_Splice_Site		NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	4049	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)						Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	37		CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008225	0.75046	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0387	0.80648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131735963	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.271000	0.78506	2.188000	0.69820	0.454000	0.30748	.		0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	Intron	33	194	0	0	0	1	0	33	194					G	133225890	A	G	133225890	5	3	79	1	0	0	0	0	0	0	1	0	12238	405	14	4	2929	4	POLE	12	133225890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5772	133225890	626005	13991	24308											
POLE	5426	broad.mit.edu	37	chr12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctgccacggaaggtccaGgatgctgcgggcagttcttc	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1327					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGAAGGTCCAGGATGCTGCGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3979-3981)Ctg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							32	31	31					12																	133225918		2203	4299	6502	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225918G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3979C>A	12.37:g.133225918G>T	ENSP00000322570:p.Leu1327Met					POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	p.L1327M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	4022	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1327					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3979C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558197	0.45590	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.71	1.6	0.23607	.	0.066612	0.64402	N	0.000008	T	0.37785	0.1016	L	0.56396	1.775	0.45946	D	0.998771	B;B	0.21606	0.045;0.058	B;B	0.31245	0.126;0.059	T	0.17018	-1.0383	10	0.48119	T	0.1	.	6.7582	0.23526	0.2102:0.0:0.6645:0.1254	.	1300;1327	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1327;1338;1300;1107;304	ENSP00000322570:L1327M;ENSP00000406383:L1338M;ENSP00000445753:L1300M;ENSP00000442519:L1107M	ENSP00000322570:L1327M	L	-	1	2	POLE	131735991	1.000000	0.71417	0.662000	0.29724	0.744000	0.42396	3.979000	0.56888	0.282000	0.22254	-0.300000	0.09419	CTG		0.662	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		50	248	1	0	3.21987e-24	1	3.67739e-24	50	248					T	133225918	G	T	133225918	3	4	79	1	0	0	0	0	1	0	0	0	12238	991	35	3	2957	3	POLE	12	133225918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	133225918	625977	13992	24309											
POLE	5426	broad.mit.edu	37	chr12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcccaggcactcacccGccagccttctcttctcgtat	6	19	3	0	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	724					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCACTCACCCGCCAGCCTTCT	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2170-2172)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G	VAL/ALA	0,4406		0,0,2203	112	106	108		2171	5.8	1	12	dbSNP_129	108	7,8593	5.7+/-21.5	0,7,4293	yes	missense	POLE	NM_006231.2	64	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	724/2287	133244944	7,12999	2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133244944G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2171C>T	12.37:g.133244944G>A	ENSP00000322570:p.Ala724Val					POLE_ENST00000535270.1_Missense_Mutation_p.A697V	p.A724V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2214	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	724					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2171C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	8.14E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.79	5.79	0.91817	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.101295	0.64402	D	0.000002	T	0.26774	0.0655	L	0.55990	1.75	0.47094	D	0.999313	P;P	0.37688	0.605;0.478	B;B	0.36666	0.147;0.23	T	0.01532	-1.1331	10	0.49607	T	0.09	.	20.212	0.98289	0.0:0.0:1.0:0.0	.	697;724	F5H1D6;Q07864	.;DPOE1_HUMAN	V	724;735;697;504;659	ENSP00000322570:A724V;ENSP00000406383:A735V;ENSP00000445753:A697V;ENSP00000442519:A504V	ENSP00000322570:A724V	A	-	2	0	POLE	131755017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.538000	0.82048	2.780000	0.95670	0.545000	0.68477	GCG		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		29	713	0	0	0	1	0	29	713					A	133244944	G	A	133244944	3	1	79	1	0	0	0	0	1	0	0	0	12238	1087	38	1	4813	1	POLE	12	133244944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19026	133244944	606951	13993	24310											
POLE	5426	broad.mit.edu	37	chr12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccggcacatgtcctccGggtctagctccacgggatca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	441					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CATGTCCTCCGGGTCTAGCTC	0.637								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1321-1323)cCg>cTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							124	117	119					12																	133250198		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133250198G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1322C>T	12.37:g.133250198G>A	ENSP00000322570:p.Pro441Leu					POLE_ENST00000535270.1_Missense_Mutation_p.P414L	p.P441L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	13	1365	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	441					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1322C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935356	0.73442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.16196	4.83;4.83;4.83;2.36	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72773	-0.4192	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	414;441	F5H1D6;Q07864	.;DPOE1_HUMAN	L	441;452;414;221;376;59	ENSP00000322570:P441L;ENSP00000406383:P452L;ENSP00000445753:P414L;ENSP00000442519:P221L	ENSP00000322570:P441L	P	-	2	0	POLE	131760271	1.000000	0.71417	0.971000	0.41717	0.024000	0.10985	9.735000	0.98825	2.660000	0.90430	0.305000	0.20034	CCG		0.637	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		159	679	0	0	0	1	0	159	679					A	133250198	G	A	133250198	3	1	79	1	0	0	0	0	1	0	0	0	12238	1116	39	1	5686	1	POLE	12	133250198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5254	133250198	601697	13994	24311											
POLE	5426	broad.mit.edu	37	chr12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggtctgtctcagcatcaGgaaacttgaggggcagtttg	13	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			1	Substitution - Missense(1)	p.P286H(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(856-858)cCt>cGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							115	99	104					12																	133253184		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133253184G>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg					POLE_ENST00000535270.1_Missense_Mutation_p.P259R	p.P286R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	9	900	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	286					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.857C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		38	202	0	0	0	1	0	38	202					C	133253184	G	C	133253184	3	2	79	1	0	0	0	0	1	0	0	0	12238	1000	35	5	6167	5	POLE	12	133253184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986	133253184	598711	13995	24312											
ANKLE2	23141	broad.mit.edu	37	chr12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaagtctctttctactgCattgattcttgaagtcagga	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000357997.5	-	11	2394	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	769					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTTCTACTGCATTGATTCTT	0.423																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2119-2121)Gca>Aca		ankyrin repeat and LEM domain containing 2							164	157	159					12																	133306443		1967	4164	6131	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306443C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2305G>A	12.37:g.133306443C>T	ENSP00000350686:p.Ala769Thr					ANKLE2_ENST00000357997.5_Missense_Mutation_p.A769T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T	p.A707T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	10	8803	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	769					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2119G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581649	0.28180	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.45668	1.92;1.91;0.89;0.89;0.89	5.59	-5.42	0.02640	.	2.199350	0.01281	N	0.009726	T	0.32675	0.0837	L	0.54323	1.7	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.13176	-1.0519	10	0.41790	T	0.15	-12.5222	1.7488	0.02967	0.1812:0.1285:0.3542:0.3362	.	769	Q86XL3	ANKL2_HUMAN	T	707;769;124;124;124	ENSP00000446268:A707T;ENSP00000350686:A769T;ENSP00000437807:A124T;ENSP00000438551:A124T;ENSP00000445760:A124T	ENSP00000350686:A769T	A	-	1	0	ANKLE2	131816516	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.363000	0.07593	-0.884000	0.03976	-0.872000	0.02987	GCA		0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			79	399	0	0	0	1	0	79	399					T	133306443	C	T	133306443	3	4	79	1	0	0	0	0	1	0	0	0	633	710	25	2	523	2	ANKLE2	12	133306443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53259	133306443	545452	13996	24313											
ANKLE2	23141	broad.mit.edu	37	chr12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcaaaatcctttgtgGgtcctggctgagagctgtga	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000357997.5	-	2	489	c.400C>A	c.(400-402)Cca>Aca	p.P134T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P72T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	134					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATCCTTTGTGGGTCCTGGCTG	0.483																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(214-216)Cca>Aca		ankyrin repeat and LEM domain containing 2							60	61	61					12																	133331501		1909	4130	6039	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331501G>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.400C>A	12.37:g.133331501G>T	ENSP00000350686:p.Pro134Thr					ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.P134T	p.P72T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	1	6898	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	134			LEM.		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.214C>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304815	0.01353	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27104	2.11;2.12;1.69	5.27	0.0898	0.14460	.	0.936787	0.09106	N	0.847758	T	0.04003	0.0112	N	0.00099	-2.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.02654	T	1	-5.3471	5.8122	0.18471	0.0:0.1446:0.2667:0.5888	.	134;134	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	72;134;134	ENSP00000446268:P72T;ENSP00000350686:P134T;ENSP00000337651:P134T	ENSP00000337651:P134T	P	-	1	0	ANKLE2	131841574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.065000	0.11617	-0.217000	0.10033	-0.265000	0.10407	CCA		0.483	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			67	225	1	0	4.73848e-44	1	5.79357e-44	67	225					T	133331501	G	T	133331501	3	4	79	1	0	0	0	0	1	0	0	0	633	1232	43	3	2464	3	ANKLE2	12	133331501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25058	133331501	520394	13997	24314											
GOLGA3	2802	broad.mit.edu	37	chr12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaagagccaacttcttgTttgactcctcaaggcgtttt	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000450791.2	-	16	3503	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S			Q08378	GOGA3_HUMAN	golgin A3	1107					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N1107S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	0.468																																						ENST00000204726.3																			1	Substitution - Missense(1)	p.N1107S(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3319-3321)aAc>aGc		golgin A3							165	161	162					12																	133359027		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133359027T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3320A>G	12.37:g.133359027T>C	ENSP00000410378:p.Asn1107Ser					GOLGA3_ENST00000450791.2_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S	p.N1107S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3878	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1107					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3320A>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975351	0.53720	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32753	1.44;1.44;1.45	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50145	-0.8862	10	0.26408	T	0.33	.	12.2323	0.54495	0.0:0.0661:0.0:0.9339	.	1107;1107	Q08378-2;Q08378	.;GOGA3_HUMAN	S	1107	ENSP00000204726:N1107S;ENSP00000410378:N1107S;ENSP00000409303:N1107S	ENSP00000204726:N1107S	N	-	2	0	GOLGA3	131869100	1.000000	0.71417	0.841000	0.33234	0.148000	0.21650	6.113000	0.71553	1.110000	0.41699	0.533000	0.62120	AAC		0.468	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		123	595	0	0	0	1	0	123	595					C	133359027	T	C	133359027	3	2	79	1	0	0	0	0	1	0	0	0	6583	1725	60	4	1208	4	GOLGA3	12	133359027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27526	133359027	492868	13998	24315											
CHFR	55743	broad.mit.edu	37	chr12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcgacacgcgggTcctgctcgcgctccgctctc	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000432561.2	-	12	1578	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	502					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACGCGGGTCCTGCTCGCG	0.657																																						ENST00000266880.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1501-1503)gAc>gGc		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							81	87	85					12																	133428227		2203	4300	6503	SO:0001583	missense	0				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428227T>C	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1505A>G	12.37:g.133428227T>C	ENSP00000392395:p.Asp502Gly					CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000432561.2_Missense_Mutation_p.D502G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000541837.2_5'UTR	p.D501G			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	13	1565	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	502					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.1502A>G	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744314	0.15710	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	3.6	0.41247	.	0.444283	0.27035	N	0.021257	T	0.23926	0.0579	L	0.40543	1.245	0.32812	D	0.501575	P;B;B;B;B	0.35575	0.51;0.071;0.042;0.071;0.029	B;B;B;B;B	0.36567	0.228;0.167;0.08;0.167;0.096	T	0.25433	-1.0132	10	0.20519	T	0.43	-17.3777	10.1814	0.42970	0.0:0.1336:0.0:0.8664	.	410;501;502;490;461	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	G	461;410;490;501;124;302;502	ENSP00000320557:D461G;ENSP00000416431:D410G;ENSP00000398735:D490G;ENSP00000266880:D501G;ENSP00000442327:D124G;ENSP00000392395:D502G	ENSP00000266880:D501G	D	-	2	0	CHFR	131938300	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	2.505000	0.45424	0.513000	0.28278	-0.250000	0.11733	GAC		0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			49	1007	0	0	0	1	0	49	1007					C	133428227	T	C	133428227	3	2	79	1	0	0	0	0	1	0	0	0	3346	1667	58	4	517	4	CHFR	12	133428227	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69200	133428227	423668	13999	24316											
ZNF10	7556	broad.mit.edu	37	chr12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtaaagaatgtggaaaatCcttcagctggttctctcacc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(985-987)tCc>tAc		zinc finger protein 10							97	104	102					12																	133732818		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732818C>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.986C>A	12.37:g.133732818C>A	ENSP00000248211:p.Ser329Tyr					CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y	p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1208	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	329					B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.986C>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370099	0.24771	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.51574	0.7;0.7;3.1	3.92	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.902656	0.09051	N	0.855773	T	0.44222	0.1283	L	0.54323	1.7	0.19300	N	0.999971	B	0.30664	0.289	B	0.30401	0.115	T	0.34625	-0.9821	9	.	.	.	.	12.4812	0.55844	0.0:0.3598:0.6402:0.0	.	329	P21506	ZNF10_HUMAN	Y	329;329;195	ENSP00000248211:S329Y;ENSP00000393814:S329Y;ENSP00000384893:S195Y	.	S	+	2	0	ZNF10	132242891	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	0.657000	0.24963	0.917000	0.36895	0.655000	0.94253	TCC		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		79	371	1	0	3.12118e-38	1	3.75939e-38	79	371					A	133732818	C	A	133732818	3	1	79	1	0	0	0	0	1	0	0	0	17765	855	30	3	1000	3	ZNF10	12	133732818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304591	133732818	119077	14000	24317											
TUBA3C	7278	broad.mit.edu	37	chr13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagatgcgaacccagagCcagtgccacccccaaaactg	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	146					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(436-438)gGc>gAc		tubulin, alpha 3c							69	69	69					13																	19751686		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751686C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.437G>A	13.37:g.19751686C>T	ENSP00000382982:p.Gly146Asp						p.G146D	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	541	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	146					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.437G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.493	1.101209	0.20632	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.96200	-3.94	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000187	D	0.95478	0.8531	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	D	0.94286	0.7524	7	0.87932	D	0	.	8.3041	0.32032	0.0:1.0:0.0:0.0	.	.	.	.	D	146	ENSP00000382982:G146D	ENSP00000354037:G146D	G	-	2	0	TUBA3C	18649686	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.253000	0.72453	0.966000	0.38159	0.162000	0.16502	GGC		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		60	395	0	0	0	1	0	60	395					T	19751686	C	T	19751686	3	4	79	1	0	0	0	0	1	0	0	0	16800	739	26	2	923	2	TUBA3C	13	19751686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19751686	95418192	14001	24318											
TPTE2	93492	broad.mit.edu	37	chr13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgatagtggtttcgatgtttCttatctagaaaccgcacaac	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000400230.2	-	11	809	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	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)			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)		TTCGATGTTTCTTATCTAGAA	0.363																																						ENST00000400230.2																			0				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						c.(763-765)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							126	111	116					13																	20025342		2203	4299	6502	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.chr13:20025342C>A	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.765G>T	13.37:g.20025342C>A	ENSP00000383089:p.Lys255Asn					TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N	p.K255N			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)	11	809	-		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)	255			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.765G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	2.644	-0.283456	0.05642	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	2.63	0.805	0.18703	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.15955	0.0384	N	0.24115	0.695	0.22581	N	0.998966	B;B;B	0.22851	0.042;0.062;0.076	B;B;B	0.28305	0.088;0.053;0.088	T	0.16276	-1.0408	9	.	.	.	-4.094	3.5972	0.08010	0.1609:0.2761:0.563:0.0	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215N;ENSP00000382974:K144N;ENSP00000383089:K255N;ENSP00000255310:K178N;ENSP00000375098:K178N;ENSP00000372437:K255N;ENSP00000372435:K215N;ENSP00000442218:K144N	.	K	-	3	2	TPTE2	18923342	0.173000	0.23056	0.349000	0.25694	0.182000	0.23217	-1.029000	0.03585	0.182000	0.20032	0.194000	0.17425	AAG		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		28	216	1	0	2.85442e-18	1	3.16582e-18	28	216					A	20025342	C	A	20025342	3	1	79	1	0	0	0	0	1	0	0	0	16484	912	32	3	843	3	TPTE2	13	20025342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273656	20025342	95144536	14002	24319											
ZMYM5	9205	broad.mit.edu	37	chr13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtactcttactaggcatgTactctccacagtgttcacag	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	386						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTAGGCATGTACTCTCCACA	0.373																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1156-1158)tAc>tGc		zinc finger, MYM-type 5							137	115	122					13																	20409711		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20409711T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1157A>G	13.37:g.20409711T>C	ENSP00000337034:p.Tyr386Cys						p.Y386C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1421	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	386					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1157A>G		.	.	.	.	.	.	.	.	.	.	T	20.9	4.065139	0.76187	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.27720	1.65;1.66	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67593	-0.5631	10	0.87932	D	0	-10.2506	14.9478	0.71047	0.0:0.0:0.0:1.0	.	386	Q9UJ78	ZMYM5_HUMAN	C	386;376	ENSP00000337034:Y386C;ENSP00000445779:Y376C	ENSP00000337034:Y386C	Y	-	2	0	ZMYM5	19307711	1.000000	0.71417	0.800000	0.32199	0.950000	0.60333	7.459000	0.80802	2.176000	0.68965	0.454000	0.30748	TAC		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		39	116	0	0	0	1	0	39	116					C	20409711	T	C	20409711	3	2	79	1	0	0	0	0	1	0	0	0	17756	1638	57	4	860	4	ZMYM5	13	20409711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	384369	20409711	94760167	14003	24320											
ZMYM2	7750	broad.mit.edu	37	chr13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaacattgcttactgcGtttctactgtcaacaaaatg	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382874.2	+	14	2583	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2392-2394)cGt>cAt		zinc finger, MYM-type 2							117	118	118					13																	20625673		1919	4132	6051	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20625673G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2393G>A	13.37:g.20625673G>A	ENSP00000372327:p.Arg798His					ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382874.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382870.2_Missense_Mutation_p.R178H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H	p.R798H	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	13	2644	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	798					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2393G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46063	2.21;0.88	5.63	5.63	0.86233	TRASH (1);Zinc finger, MYM-type (1);	0.147068	0.64402	D	0.000014	T	0.59770	0.2218	L	0.47716	1.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.70935	0.971	T	0.57207	-0.7851	10	0.49607	T	0.09	-6.5552	19.6626	0.95878	0.0:0.0:1.0:0.0	.	798	Q9UBW7	ZMYM2_HUMAN	H	798;798;796;796;280;176	ENSP00000372322:R798H;ENSP00000372336:R280H	ENSP00000372322:R798H	R	+	2	0	ZMYM2	19523673	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.016000	0.64041	2.643000	0.89663	0.655000	0.94253	CGT		0.398	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		53	170	0	0	0	1	0	53	170					A	20625673	G	A	20625673	3	1	79	1	0	0	0	0	1	0	0	0	17753	1145	40	1	2435	1	ZMYM2	13	20625673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215962	20625673	94544205	14004	24321											
ZMYM2	7750	broad.mit.edu	37	chr13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgagaagattcctgcaGcaattgaggagctaaaaagc	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382874.2	+	18	2987	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2797-2799)Gca>Aca		zinc finger, MYM-type 2							64	61	62					13																	20635250		1898	4134	6032	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20635250G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2797G>A	13.37:g.20635250G>A	ENSP00000372327:p.Ala933Thr					ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382874.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382870.2_Missense_Mutation_p.A313T	p.A933T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	17	3048	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	933					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2797G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136700	0.06711	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.15718	2.4	5.54	2.83	0.33086	.	0.542317	0.22326	N	0.061523	T	0.08179	0.0204	N	0.16233	0.39	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.02654	T	1	-1.6549	9.643	0.39850	0.0659:0.0:0.6795:0.2546	.	933	Q9UBW7	ZMYM2_HUMAN	T	933;933;931;931;311	ENSP00000372322:A933T	ENSP00000372322:A933T	A	+	1	0	ZMYM2	19533250	0.002000	0.14202	0.007000	0.13788	0.877000	0.50540	1.299000	0.33424	0.369000	0.24510	0.655000	0.94253	GCA		0.408	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		20	68	0	0	0	1	0	20	68					A	20635250	G	A	20635250	3	1	79	1	0	0	0	0	1	0	0	0	17753	971	34	2	2855	2	ZMYM2	13	20635250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9577	20635250	94534628	14005	24322											
GJA3	2700	broad.mit.edu	37	chr13	20716897	20716897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggtcgcagcggtagagCggcttcagctcgaagccgta	15	12	1	1	rs532650165		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	177					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(529-531)ccG>ccA		gap junction protein, alpha 3, 46kDa							49	47	48					13																	20716897		2203	4300	6503	SO:0001819	synonymous_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716897C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.531G>A	13.37:g.20716897C>T							p.P177P	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	707	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	177					Q0VAB7|Q9H537	Silent	SNP	ENST00000241125.3	37	c.531G>A	CCDS9289.1																																																																																				0.597	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		61	305	0	0	0	1	0	61	305					T	20716897	C	T	20716897	2	4	79	1	0	0	0	0	0	0	0	1	6431	755	27	1		1	GJA3	13	20716897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81647	20716897	94452981	14006	24323											
GJA3	2700	broad.mit.edu	37	chr13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgcacgatgtgcagcaCgtggcccaggtagatgaggg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	96					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATGTGCAGCACGTGGCCCAGG	0.607																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(286-288)Gtg>Atg		gap junction protein, alpha 3, 46kDa							62	56	58					13																	20717142		2203	4300	6503	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717142C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.286G>A	13.37:g.20717142C>T	ENSP00000241125:p.Val96Met						p.V96M	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	462	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	96					Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.286G>A	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848041	0.91277	.	.	ENSG00000121743	ENST00000241125	D	0.99239	-5.61	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99115	0.9695	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.99879	1.1110	10	0.72032	D	0.01	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	96	Q9Y6H8	CXA3_HUMAN	M	96	ENSP00000241125:V96M	ENSP00000241125:V96M	V	-	1	0	GJA3	19615142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.837000	0.62796	2.517000	0.84864	0.561000	0.74099	GTG		0.607	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		10	76	0	0	0	1	0	10	76					T	20717142	C	T	20717142	3	4	79	1	0	0	0	0	1	0	0	0	6431	536	19	1	1025	1	GJA3	13	20717142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	20717142	94452736	14007	24324											
GJB2	2706	broad.mit.edu	37	chr13	20763277	20763277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagacgtacatgaaggcGgcttcgaagatgacccggaa	13	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	148			A -> P. {ECO:0000269|PubMed:15954104}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(442-444)gcC>gcT		gap junction protein, beta 2, 26kDa							113	100	104					13																	20763277		2203	4300	6503	SO:0001819	synonymous_variant	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763277G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.444C>T	13.37:g.20763277G>A			OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Silent_p.A148A	p.A148A			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	642	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	148					Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.444C>T	CCDS9290.1																																																																																				0.542	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			58	312	0	0	0	1	0	58	312					A	20763277	G	A	20763277	2	1	79	1	0	0	0	0	0	0	0	1	6437	1103	39	1		1	GJB2	13	20763277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46135	20763277	94406601	14008	24325											
GJB6	10804	broad.mit.edu	37	chr13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggtcatagcacacatTtttgcatcccggttgcagtg	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	62					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TAGCACACATTTTTGCATCCC	0.567																																						ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(184-186)Aat>Cat		gap junction protein, beta 6, 30kDa							100	78	86					13																	20797436		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797436T>G	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.184A>C	13.37:g.20797436T>G	ENSP00000348521:p.Asn62His					GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H	p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	804	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	62					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.184A>C	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916291	0.52546	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.38	5.38	0.77491	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.94142	3.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	62	O95452	CXB6_HUMAN	H	62	ENSP00000241124:N62H;ENSP00000382938:N62H;ENSP00000382939:N62H;ENSP00000348521:N62H	ENSP00000241124:N62H	N	-	1	0	GJB6	19695436	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	7.991000	0.88244	2.030000	0.59900	0.533000	0.62120	AAT		0.567	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			7	282	0	0	0	1	0	7	282					G	20797436	T	G	20797436	3	3	79	1	0	0	0	0	1	0	0	0	6441	1841	64	4	605	4	GJB6	13	20797436	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34159	20797436	94372442	14009	24326											
GJB6	10804	broad.mit.edu	37	chr13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtttgttgacaccccCgatgaaagtgtgcagcgtcc	13	10	0	2	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	11			G -> R (in ECTD2). {ECO:0000269|PubMed:11017065}.	G -> E (in Ref. 9; AAV67951). {ECO:0000305}.	apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TTGACACCCCCGATGAAAGTG	0.507																																						ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9	GRCh37	CM002605	GJB6	M	rs104894415	c.(31-33)Ggg>Agg		gap junction protein, beta 6, 30kDa							124	115	118					13																	20797589		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797589C>T	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.31G>A	13.37:g.20797589C>T	ENSP00000348521:p.Gly11Arg					GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	651	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	11	G -> E (in Ref. 9; AAV67951).	G -> R (in ED2).			B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.31G>A	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164711	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.38	5.38	0.77491	Connexin, N-terminal (1);	0.134693	0.49916	D	0.000127	D	0.98789	0.9592	L	0.60455	1.87	0.51482	A	0.999923	D	0.89917	1.0	D	0.65010	0.931	D	0.99917	1.1229	9	0.62326	D	0.03	.	12.4904	0.55897	0.0:0.9239:0.0:0.076	.	11	O95452	CXB6_HUMAN	R	11	ENSP00000241124:G11R;ENSP00000382938:G11R;ENSP00000382939:G11R;ENSP00000348521:G11R	ENSP00000241124:G11R	G	-	1	0	GJB6	19695589	0.972000	0.33761	0.859000	0.33776	0.021000	0.10359	2.917000	0.48821	2.507000	0.84556	0.655000	0.94253	GGG		0.507	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			115	528	0	0	0	1	0	115	528					T	20797589	C	T	20797589	3	4	79	1	0	0	0	0	1	0	0	0	6441	652	23	1	758	1	GJB6	13	20797589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	20797589	94372289	14010	24327											
IFT88	8100	broad.mit.edu	37	chr13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaagggaatacagtttttGcaaatggtgattatgagaag	11	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000319980.6	+	19	1840	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	505					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TACAGTTTTTGCAAATGGTGA	0.368																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1513-1515)Gca>Aca		intraflagellar transport 88 homolog (Chlamydomonas)							98	104	102					13																	21212570		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21212570G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1513G>A	13.37:g.21212570G>A	ENSP00000323580:p.Ala505Thr					IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000319980.6_Missense_Mutation_p.A505T	p.A505T			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	18	2631	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	505					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1513G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725880	0.48833	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.115379	0.64402	D	0.000016	T	0.36138	0.0956	N	0.11756	0.17	0.39382	D	0.966273	P;B;P	0.43231	0.547;0.02;0.801	B;B;B	0.38156	0.117;0.043;0.266	T	0.29243	-1.0018	10	0.13470	T	0.59	-19.7492	13.1671	0.59577	0.0728:0.0:0.9272:0.0	.	477;303;505	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	505;368;496;505;477	ENSP00000372228:A505T;ENSP00000261632:A496T;ENSP00000323580:A505T;ENSP00000437719:A477T	ENSP00000323580:A505T	A	+	1	0	IFT88	20110570	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.208000	0.72165	2.710000	0.92621	0.561000	0.74099	GCA		0.368	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		93	438	0	0	0	1	0	93	438					A	21212570	G	A	21212570	3	1	79	1	0	0	0	0	1	0	0	0	7596	1319	46	2	1579	2	IFT88	13	21212570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	414981	21212570	93957308	14011	24328											
N6AMT2	221143	broad.mit.edu	37	chr13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaatcataattcacaTaacagcgaaactcatttgcc	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	203						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463																																						ENST00000382758.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(607-609)tAt>tGt		N-6 adenine-specific DNA methyltransferase 2 (putative)							225	211	215					13																	21303256		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21303256T>C	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.608A>G	13.37:g.21303256T>C	ENSP00000372206:p.Tyr203Cys					N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C	p.Y203C			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	655	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	203					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.608A>G	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.86	4.66	0.58398	.	0.124958	0.56097	D	0.000029	T	0.59500	0.2198	M	0.82323	2.585	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.60424	-0.7266	10	0.54805	T	0.06	.	12.3921	0.55364	0.1262:0.0:0.0:0.8737	.	203	Q8WVE0	N6MT2_HUMAN	C	203	ENSP00000372206:Y203C;ENSP00000372202:Y203C	ENSP00000372202:Y203C	Y	-	2	0	N6AMT2	20201256	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	4.848000	0.62874	1.025000	0.39708	0.533000	0.62120	TAT		0.463	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		135	769	0	0	0	1	0	135	769					C	21303256	T	C	21303256	3	2	79	1	0	0	0	0	1	0	0	0	10156	1406	49	4	40	4	N6AMT2	13	21303256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	90686	21303256	93866622	14012	24329											
XPO4	64328	broad.mit.edu	37	chr13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatcagaaaactggtctcGatcatcctcttgaagttcac	7	10	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	471					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428																																						ENST00000400602.2																			1	Substitution - Nonsense(1)	p.R444*(1)	large_intestine(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1411-1413)Cga>Tga		exportin 4							132	126	128					13																	21383304		1900	4121	6021	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21383304G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1411C>T	13.37:g.21383304G>A	ENSP00000255305:p.Arg471*					XPO4_ENST00000255305.6_Nonsense_Mutation_p.R471*	p.R471*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	11	1446	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	471					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.1411C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	XPO4	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA		0.428	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		61	404	0	0	0	1	0	61	404					A	21383304	G	A	21383304	4	1	79	1	0	0	0	0	0	1	0	0	17500	1066	37	1	2096	1	XPO4	13	21383304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80048	21383304	93786574	14013	24330											
XPO4	64328	broad.mit.edu	37	chr13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcttgtgccatctggaGcagctaggtggcactgaata	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000255305.6	-	10	1399	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000400602.2_Missense_Mutation_p.A443V			Q9C0E2	XPO4_HUMAN	exportin 4	443					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCCATCTGGAGCAGCTAGGTG	0.343																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1327-1329)gCt>gTt		exportin 4							76	73	74					13																	21383952		1838	4091	5929	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21383952G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1328C>T	13.37:g.21383952G>A	ENSP00000255305:p.Ala443Val					XPO4_ENST00000255305.6_Missense_Mutation_p.A443V	p.A443V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	10	1363	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	443					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1328C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382149	0.82792	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.47869	0.83;0.83	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.55481	1.735	0.80722	D	1	B	0.28880	0.226	B	0.29524	0.103	T	0.34054	-0.9844	10	0.16420	T	0.52	-23.9262	20.4434	0.99119	0.0:0.0:1.0:0.0	.	443	Q9C0E2	XPO4_HUMAN	V	443;313;443	ENSP00000383444:A443V;ENSP00000255305:A443V	ENSP00000255305:A443V	A	-	2	0	XPO4	20281952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.406000	0.97321	2.838000	0.97847	0.655000	0.94253	GCT		0.343	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		21	143	0	0	0	1	0	21	143					A	21383952	G	A	21383952	3	1	79	1	0	0	0	0	1	0	0	0	17500	971	34	2	2183	2	XPO4	13	21383952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	21383952	93785926	14014	24331											
LATS2	26524	broad.mit.edu	37	chr13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtcatcaaagaaccttcGgaaggtgaattcgtaaaatg	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AAGAACCTTCGGAAGGTGAAT	0.512																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(3127-3129)Cga>Tga		large tumor suppressor kinase 2							200	181	187					13																	21549149		2203	4300	6503	SO:0001587	stop_gained	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549149G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3127C>T	13.37:g.21549149G>A	ENSP00000372035:p.Arg1043*					LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	p.R1043*	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3532	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1043			AGC-kinase C-terminal.			Nonsense_Mutation	SNP	ENST00000382592.4	37	c.3127C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991726	0.98599	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	6.07	5.16	0.70880	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	.	.	.	X	1043	.	ENSP00000372035:R1043X	R	-	1	2	LATS2	20447149	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	6.238000	0.72350	2.885000	0.99019	0.655000	0.94253	CGA		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			97	551	0	0	0	1	0	97	551					A	21549149	G	A	21549149	4	1	79	1	0	0	0	0	0	1	0	0	8678	1124	39	1	143	1	LATS2	13	21549149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165197	21549149	93620729	14015	24332											
LATS2	26524	broad.mit.edu	37	chr13	21562824	21562824	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggccactgctggacggaGgtgctgcccaattcatacag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000542899.1_Silent_p.T365T|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTGGACGGAGGTGCTGCCCA	0.726																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1093-1095)acC>acA		large tumor suppressor kinase 2							23	25	24					13																	21562824		2164	4169	6333	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562824G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1095C>A	13.37:g.21562824G>T						LATS2_ENST00000542899.1_Silent_p.T365T	p.T365T	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1500	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	365						Silent	SNP	ENST00000382592.4	37	c.1095C>A	CCDS9294.1																																																																																				0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			25	212	1	0	9.39395e-14	1	1.01619e-13	25	212					T	21562824	G	T	21562824	2	4	79	1	0	0	0	0	0	0	0	1	8678	987	35	3		3	LATS2	13	21562824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13675	21562824	93607054	14016	24333											
SAP18	10284	broad.mit.edu	37	chr13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagaactgacaagcttaGtaaaagaagtctacccagaa	8	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000607003.1	+	3	249	c.217G>A	c.(217-219)Gta>Ata	p.V73I	SAP18_ENST00000382533.4_Missense_Mutation_p.V92I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	73					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343																																						ENST00000382533.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(274-276)Gta>Ata		Sin3A-associated protein, 18kDa							102	98	99					13																	21720978		2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21720978G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.217G>A	13.37:g.21720978G>A	ENSP00000475925:p.Val73Ile					SAP18_ENST00000607003.1_Missense_Mutation_p.V73I	p.V92I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	3	313	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	73					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.274G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719292|2.719292	0.48728|0.48728	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.72|5.72	4.88|4.88	0.63580|0.63580	.|.	.|0.051574	.|0.85682	.|D	.|0.000000	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.32211	.|0.142	T|T	0.49380|0.49380	-0.8946|-0.8946	5|9	.|0.25751	.|T	.|0.34	-27.8251|-27.8251	14.9155|14.9155	0.70792|0.70792	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	.|73	.|O00422	.|SAP18_HUMAN	N|I	86|92	.|.	.|ENSP00000371973:V92I	S|V	+|+	2|1	0|0	SAP18|SAP18	20618978|20618978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.614000|9.614000	0.98353|0.98353	1.424000|1.424000	0.47217|0.47217	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.343	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		58	284	0	0	0	1	0	58	284					A	21720978	G	A	21720978	3	1	79	1	0	0	0	0	1	0	0	0	13882	1029	36	2	284	2	SAP18	13	21720978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158154	21720978	93448900	14017	24334											
SKA3	221150	broad.mit.edu	37	chr13	21729846	21729846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccagttttctttgttGctgacatctcggatgttctg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000314759.5	-	8	1348	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	408					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1222-1224)agC>agT		spindle and kinetochore associated complex subunit 3							175	170	172					13																	21729846		2203	4300	6503	SO:0001819	synonymous_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729846G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1224C>T	13.37:g.21729846G>A						SKA3_ENST00000400018.3_Intron	p.S408S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			8	1348	-			408					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	ENST00000314759.5	37	c.1224C>T	CCDS31946.1																																																																																				0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		66	527	0	0	0	1	0	66	527					A	21729846	G	A	21729846	2	1	79	1	0	0	0	0	0	0	0	1	14404	1310	46	2		2	SKA3	13	21729846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8868	21729846	93440032	14018	24335											
SKA3	221150	broad.mit.edu	37	chr13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctgaatttaaaaccaacGaagtacgatcttcaacttcc	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000314759.5	-	7	1110	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	329					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(985-987)tCg>tTg		spindle and kinetochore associated complex subunit 3							112	120	118					13																	21732194		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21732194G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.986C>T	13.37:g.21732194G>A	ENSP00000319417:p.Ser329Leu					SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			7	1110	-			329					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.986C>T	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440333	0.43326	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.28454	1.62;1.61	5.98	5.98	0.97165	.	0.247257	0.39274	N	0.001409	T	0.48537	0.1505	L	0.47716	1.5	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.917;0.939	T	0.37753	-0.9692	10	0.49607	T	0.09	-1.2477	17.1559	0.86791	0.0:0.0:1.0:0.0	.	329;329	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	329	ENSP00000319417:S329L;ENSP00000382896:S329L	ENSP00000319417:S329L	S	-	2	0	SKA3	20630194	0.561000	0.26578	0.010000	0.14722	0.026000	0.11368	3.939000	0.56591	2.837000	0.97791	0.591000	0.81541	TCG		0.333	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		48	469	0	0	0	1	0	48	469					A	21732194	G	A	21732194	3	1	79	1	0	0	0	0	1	0	0	0	14404	1059	37	1	311	1	SKA3	13	21732194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2348	21732194	93437684	14019	24336											
SACS	26278	broad.mit.edu	37	chr13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgtcttagccatctgCgtgcttccactggattgcca	10	12	2	0	rs374048886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382292.3	-	9	13616	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000382298.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4448					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATCTGCGTGCTTCCAC	0.468																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13342-13344)cGc>cAc		spastic ataxia of Charlevoix-Saguenay (sacsin)		C	HIS/ARG	0,4406		0,0,2203	81	88	86		13343	5.8	0.1	13		86	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	4448/4580	23904672	1,13003	2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904672C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13343G>A	13.37:g.23904672C>T	ENSP00000371729:p.Arg4448His					SACS_ENST00000382292.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H	p.R4448H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13931	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4448					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13343G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325834	0.60743	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	5.85	5.85	0.93711	HEPN (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.76071	0.987	D	0.91393	0.5137	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4448	Q9NZJ4	SACS_HUMAN	H	4448;3698;4448	ENSP00000371729:R4448H;ENSP00000385844:R3698H;ENSP00000371735:R4448H	ENSP00000371729:R4448H	R	-	2	0	SACS	22802672	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	5.920000	0.70017	2.767000	0.95098	0.563000	0.77884	CGC		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		87	580	0	0	0	1	0	87	580					T	23904672	C	T	23904672	3	4	79	1	0	0	0	0	1	0	0	0	13854	768	27	1	400	1	SACS	13	23904672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2172478	23904672	91265206	14020	24337											
SACS	26278	broad.mit.edu	37	chr13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccatttcaaatacaacCgcctaataatcttttttcgt	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382292.3	-	9	13265	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q|SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4331	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.		R -> Q (in SACS). {ECO:0000269|PubMed:18465152}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATACAACCGCCTAATAAT	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12991-12993)cGg>cAg		spastic ataxia of Charlevoix-Saguenay (sacsin)							111	121	118					13																	23905023		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905023C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12992G>A	13.37:g.23905023C>T	ENSP00000371729:p.Arg4331Gln					SACS_ENST00000382292.3_Missense_Mutation_p.R4331Q|SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q	p.R4331Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13580	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4331		R -> Q (in SACS).	J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12992G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.263552	0.95399	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.83335	-1.71;-1.71;-1.71	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.39397	1.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.88950	0.3386	10	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	4331	Q9NZJ4	SACS_HUMAN	Q	4331;3581;4331	ENSP00000371729:R4331Q;ENSP00000385844:R3581Q;ENSP00000371735:R4331Q	ENSP00000371729:R4331Q	R	-	2	0	SACS	22803023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.814000	0.86154	2.746000	0.94184	0.563000	0.77884	CGG		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		131	843	0	0	0	1	0	131	843					T	23905023	C	T	23905023	3	4	79	1	0	0	0	0	1	0	0	0	13854	652	23	1	751	1	SACS	13	23905023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351	23905023	91264855	14021	24338											
SACS	26278	broad.mit.edu	37	chr13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaagtttcacttctgCtgtggggaataggattaaaa	10	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382292.3	-	9	12476	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000382298.3_Missense_Mutation_p.S4068I|SACS_ENST00000402364.1_Missense_Mutation_p.S3318I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4068					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCACTTCTGCTGTGGGGAAT	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12202-12204)aGc>aTc		spastic ataxia of Charlevoix-Saguenay (sacsin)							61	60	60					13																	23905812		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905812C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12203G>T	13.37:g.23905812C>A	ENSP00000371729:p.Ser4068Ile					SACS_ENST00000382292.3_Missense_Mutation_p.S4068I|SACS_ENST00000402364.1_Missense_Mutation_p.S3318I	p.S4068I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12791	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4068					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12203G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335478	0.81801	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.38;-2.53;-2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.92305	0.5853	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	4068	Q9NZJ4	SACS_HUMAN	I	4068;3318;4068	ENSP00000371729:S4068I;ENSP00000385844:S3318I;ENSP00000371735:S4068I	ENSP00000371729:S4068I	S	-	2	0	SACS	22803812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.754000	0.85163	2.462000	0.83206	0.655000	0.94253	AGC		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		59	222	1	0	4.88506e-25	1	5.59823e-25	59	222					A	23905812	C	A	23905812	3	1	79	1	0	0	0	0	1	0	0	0	13854	797	28	3	1540	3	SACS	13	23905812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	23905812	91264066	14022	24339											
SACS	26278	broad.mit.edu	37	chr13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acacagaattgaatcctattCcatactgtccagttttataa	4	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382292.3	-	9	8141	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000382298.3_Missense_Mutation_p.G2623V|SACS_ENST00000402364.1_Missense_Mutation_p.G1873V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2623					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCTATTCCATACTGTCC	0.388																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7867-7869)gGa>gTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							106	110	109					13																	23910147		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910147C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7868G>T	13.37:g.23910147C>A	ENSP00000371729:p.Gly2623Val					SACS_ENST00000382292.3_Missense_Mutation_p.G2623V|SACS_ENST00000402364.1_Missense_Mutation_p.G1873V	p.G2623V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8456	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2623					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7868G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943189	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.99818	-6.92;-6.92;-6.92	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96931	0.9681	10	0.87932	D	0	.	19.3858	0.94555	0.0:1.0:0.0:0.0	.	2623	Q9NZJ4	SACS_HUMAN	V	2623;1873;2623	ENSP00000371729:G2623V;ENSP00000385844:G1873V;ENSP00000371735:G2623V	ENSP00000371729:G2623V	G	-	2	0	SACS	22808147	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.487000	0.81328	2.590000	0.87494	0.462000	0.41574	GGA		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		79	376	1	0	4.9621e-21	1	5.57887e-21	79	376					A	23910147	C	A	23910147	3	1	79	1	0	0	0	0	1	0	0	0	13854	855	30	3	5875	3	SACS	13	23910147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4335	23910147	91259731	14023	24340											
SACS	26278	broad.mit.edu	37	chr13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctttcttgatcaatagattCcaaaacaagagcaaaatctt	4	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382292.3	-	9	7486	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2405					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATAGATTCCAAAACAAGA	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7213-7215)Gaa>Taa		spastic ataxia of Charlevoix-Saguenay (sacsin)							39	39	39					13																	23910802		2202	4299	6501	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910802C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7213G>T	13.37:g.23910802C>A	ENSP00000371729:p.Glu2405*					SACS_ENST00000382292.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*	p.E2405*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7801	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2405					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.7213G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	56	26.674665	0.99969	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.73	5.73	0.89815	.	0.108347	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	.	.	.	X	2405;1655;2405	.	ENSP00000371729:E2405X	E	-	1	0	SACS	22808802	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.599000	0.61076	2.722000	0.93159	0.655000	0.94253	GAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		35	163	1	0	1.22384e-17	1	1.35282e-17	35	163					A	23910802	C	A	23910802	4	1	79	1	0	0	0	0	0	1	0	0	13854	864	30	3	6530	3	SACS	13	23910802	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	23910802	91259076	14024	24341											
SACS	26278	broad.mit.edu	37	chr13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtataaaggtcagttgCtgcaaacatggtttcaggct	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382292.3	-	9	6997	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000382298.3_Missense_Mutation_p.A2242T|SACS_ENST00000402364.1_Missense_Mutation_p.A1492T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2242					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTCAGTTGCTGCAAACATG	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6724-6726)Gca>Aca		spastic ataxia of Charlevoix-Saguenay (sacsin)							63	65	65					13																	23911291		2202	4299	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911291C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6724G>A	13.37:g.23911291C>T	ENSP00000371729:p.Ala2242Thr					SACS_ENST00000382292.3_Missense_Mutation_p.A2242T|SACS_ENST00000402364.1_Missense_Mutation_p.A1492T	p.A2242T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7312	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2242					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6724G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995804	0.74703	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.75	5.75	0.90469	.	0.055383	0.64402	D	0.000001	D	0.92100	0.7496	M	0.61703	1.905	0.48696	D	0.999694	D	0.59357	0.985	P	0.53518	0.728	D	0.92488	0.5998	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2242	Q9NZJ4	SACS_HUMAN	T	2242;1492;2242	ENSP00000371729:A2242T;ENSP00000385844:A1492T;ENSP00000371735:A2242T	ENSP00000371729:A2242T	A	-	1	0	SACS	22809291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.584000	0.67490	2.706000	0.92434	0.655000	0.94253	GCA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		47	220	0	0	0	1	0	47	220					T	23911291	C	T	23911291	3	4	79	1	0	0	0	0	1	0	0	0	13854	797	28	2	7019	2	SACS	13	23911291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	23911291	91258587	14025	24342											
SACS	26278	broad.mit.edu	37	chr13	23912282	23912282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataacatgtctcatgaaCgtggtattccatcgtccttt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23912282C>T	ENST00000382292.3	-	9	6006	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	SACS_ENST00000382298.3_Silent_p.T1911T|SACS_ENST00000402364.1_Silent_p.T1161T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1911					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTCTCATGAACGTGGTATTCC	0.408																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5731-5733)acG>acA		spastic ataxia of Charlevoix-Saguenay (sacsin)							162	134	144					13																	23912282		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912282C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5733G>A	13.37:g.23912282C>T						SACS_ENST00000382292.3_Silent_p.T1911T|SACS_ENST00000402364.1_Silent_p.T1161T	p.T1911T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6321	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1911					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.5733G>A	CCDS9300.2																																																																																				0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	334	0	0	0	1	0	7	334					T	23912282	C	T	23912282	2	4	79	1	0	0	0	0	0	0	0	1	13854	523	19	1		1	SACS	13	23912282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	991	23912282	91257596	14026	24343											
SACS	26278	broad.mit.edu	37	chr13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaacatgtttgccagaCgaatagtagcttcatcacta	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382298.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2926-2928)cGt>cAt		spastic ataxia of Charlevoix-Saguenay (sacsin)							71	70	70					13																	23915088		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915088C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2927G>A	13.37:g.23915088C>T	ENSP00000371729:p.Arg976His					SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	p.R976H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3515	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	976					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2927G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	SACS	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		63	294	0	0	0	1	0	63	294					T	23915088	C	T	23915088	3	4	79	1	0	0	0	0	1	0	0	0	13854	536	19	1	10816	1	SACS	13	23915088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2806	23915088	91254790	14027	24344											
SACS	26278	broad.mit.edu	37	chr13	23929330	23929330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccattttatgctcctgCggttatcagtaaggccaaag	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929330C>T	ENST00000382292.3	-	7	1694	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.R474H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	474					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATGCTCCTGCGGTTATCAGT	0.483																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1420-1422)cGc>cAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							57	56	56					13																	23929330		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929330C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1421G>A	13.37:g.23929330C>T	ENSP00000371729:p.Arg474His					SACS_ENST00000382292.3_Missense_Mutation_p.R474H|SACS_ENST00000402364.1_5'UTR	p.R474H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2009	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	474					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1421G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.251455	0.95305	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.19669	2.13;2.13;2.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.88310	2.945	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.63166	-0.6698	10	0.87932	D	0	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	373;261;474	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	474;474;98	ENSP00000371729:R474H;ENSP00000371735:R474H;ENSP00000390925:R98H	ENSP00000371729:R474H	R	-	2	0	SACS	22827330	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.788000	0.95919	0.555000	0.69702	CGC		0.483	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	279	0	0	0	1	0	7	279					T	23929330	C	T	23929330	3	4	79	1	0	0	0	0	1	0	0	0	13854	768	27	1	12330	1	SACS	13	23929330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14242	23929330	91240548	14028	24345											
SACS	26278	broad.mit.edu	37	chr13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaccaaccaagatgttttCtgtgcatccttagtactctc	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382292.3	-	7	1437	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	388					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATGTTTTCTGTGCATCCT	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1162-1164)caG>caT		spastic ataxia of Charlevoix-Saguenay (sacsin)							123	123	123					13																	23929587		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929587C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1164G>T	13.37:g.23929587C>A	ENSP00000371729:p.Gln388His					SACS_ENST00000382292.3_Missense_Mutation_p.Q388H|SACS_ENST00000402364.1_5'UTR	p.Q388H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1752	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	388					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1164G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.373|9.373	1.071071|1.071071	0.20147|0.20147	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|D;D;T	.|0.87029	.|-2.2;-2.2;-1.13	5.72|5.72	-4.06|-4.06	0.03986|0.03986	.|.	.|0.339875	.|0.31872	.|N	.|0.006940	.|D	.|0.86167	.|0.5868	M|M	0.62723|0.62723	1.935|1.935	0.20764|0.20764	N|N	0.999855|0.999855	.|P;B;B	.|0.51057	.|0.941;0.129;0.007	.|P;B;B	.|0.53809	.|0.735;0.138;0.031	.|T	.|0.81057	.|-0.1105	.|10	.|0.54805	.|T	.|0.06	.|.	8.6511|8.6511	0.34035|0.34035	0.0:0.3169:0.1801:0.503|0.0:0.3169:0.1801:0.503	.|.	.|287;175;388	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	X|H	288|388;388;12	.|ENSP00000371729:Q388H;ENSP00000371735:Q388H;ENSP00000390925:Q12H	.|ENSP00000371729:Q388H	E|Q	-|-	1|3	0|2	SACS|SACS	22827587|22827587	0.276000|0.276000	0.24211|0.24211	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.005000|-0.005000	0.12855|0.12855	-0.905000|-0.905000	0.03871|0.03871	-0.786000|-0.786000	0.03341|0.03341	GAA|CAG		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		57	340	1	0	1.48341e-19	1	1.65596e-19	57	340					A	23929587	C	A	23929587	3	1	79	1	0	0	0	0	1	0	0	0	13854	912	32	3	12587	3	SACS	13	23929587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	23929587	91240291	14029	24346											
SACS	26278	broad.mit.edu	37	chr13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgttcctggaaaattgCcgtttataaatgtttccttg	7	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382292.3	-	7	1064	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	264					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G117D(1)|p.G264D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGAAAATTGCCGTTTATAAA	0.388																																						ENST00000382298.3																			2	Substitution - Missense(2)	p.G117D(1)|p.G264D(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(790-792)gGc>gAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							113	108	109					13																	23929960		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929960C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.791G>A	13.37:g.23929960C>T	ENSP00000371729:p.Gly264Asp					SACS_ENST00000382292.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR	p.G264D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1379	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	264					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.791G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342613	0.61073	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.91407	-2.84;-2.84	5.94	5.1	0.69264	ATPase-like, ATP-binding domain (2);	0.110179	0.64402	D	0.000010	D	0.92668	0.7670	L	0.47716	1.5	0.45490	D	0.998454	D;B;B	0.56968	0.978;0.147;0.173	P;B;B	0.61397	0.888;0.138;0.068	D	0.91868	0.5505	10	0.36615	T	0.2	.	17.0221	0.86436	0.0:0.8658:0.1342:0.0	.	163;51;264	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	D	264	ENSP00000371729:G264D;ENSP00000371735:G264D	ENSP00000371729:G264D	G	-	2	0	SACS	22827960	1.000000	0.71417	0.649000	0.29536	0.772000	0.43724	5.028000	0.64115	1.506000	0.48736	0.650000	0.86243	GGC		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		86	337	0	0	0	1	0	86	337					T	23929960	C	T	23929960	3	4	79	1	0	0	0	0	1	0	0	0	13854	739	26	2	12960	2	SACS	13	23929960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373	23929960	91239918	14030	24347											
SACS	26278	broad.mit.edu	37	chr13	23932601	23932601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgaaaaccgcgttgttGtacacatagagagctggccc	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382292.3	-	6	750	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000382298.3_Silent_p.Y159Y|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	159					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCGCGTTGTTGTACACATAGA	0.453																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(475-477)taC>taT		spastic ataxia of Charlevoix-Saguenay (sacsin)							115	115	115					13																	23932601		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23932601G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.477C>T	13.37:g.23932601G>A						SACS_ENST00000382292.3_Silent_p.Y159Y|SACS_ENST00000402364.1_5'UTR	p.Y159Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	7	1065	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	159					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.477C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	7.069	0.567935	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	.	.	.	X	59	.	.	Q	-	1	0	SACS	22830601	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.463000	0.53050	2.715000	0.92844	0.655000	0.94253	CAA		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		78	515	0	0	0	1	0	78	515					A	23932601	G	A	23932601	2	1	79	1	0	0	0	0	0	0	0	1	13854	1372	48	2		2	SACS	13	23932601	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2641	23932601	91237277	14031	24348											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190110	24190110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccctgtctggactgCgcagtggtgaaccgctttca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382258.4	+	4	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000382263.3_Silent_p.C95C|TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000403372.2_5'UTR	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	95					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(283-285)tgC>tgT		tumor necrosis factor receptor superfamily, member 19							107	99	102					13																	24190110		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24190110C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.285C>T	13.37:g.24190110C>T						TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Silent_p.C95C|TNFRSF19_ENST00000248484.4_Silent_p.C95C	p.C95C	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	4	469	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	95					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.285C>T	CCDS9302.1																																																																																				0.572	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		46	302	0	0	0	1	0	46	302					T	24190110	C	T	24190110	2	4	79	1	0	0	0	0	0	0	0	1	16344	776	27	1		1	TNFRSF19	13	24190110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257509	24190110	90979768	14032	24349											
TNFRSF19	55504	broad.mit.edu	37	chr13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcctcctccttacgAaccgcactgtgagtgaacgc	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382258.4	+	5	641	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E146A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	146					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTCCTTACGAACCGCACTGT	0.468																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(436-438)gAa>gCa		tumor necrosis factor receptor superfamily, member 19							97	84	89					13																	24200923		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200923A>C	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.437A>C	13.37:g.24200923A>C	ENSP00000371693:p.Glu146Ala					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A	p.E146A	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	621	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	146					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.437A>C	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209581	0.58343	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.79475	2.455	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.54563	-0.8275	10	0.48119	T	0.1	-26.9284	15.3132	0.74053	1.0:0.0:0.0:0.0	.	14;146;146	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	A	146;14;146;146	ENSP00000248484:E146A;ENSP00000385408:E14A;ENSP00000371693:E146A;ENSP00000371698:E146A	ENSP00000248484:E146A	E	+	2	0	TNFRSF19	23098923	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	GAA		0.468	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		28	195	0	0	0	1	0	28	195					C	24200923	A	C	24200923	3	2	79	1	0	0	0	0	1	0	0	0	16344	246	9	4	451	4	TNFRSF19	13	24200923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10813	24200923	90968955	14033	24350											
TNFRSF19	55504	broad.mit.edu	37	chr13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctgcagccccaaccCggcgactcttggttgtgggg	16	13	1	0	rs368392120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382258.4	+	8	995	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P264L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	264					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCCAACCCGGCGACTCTT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16161	0.0		0.0	False		,,,				2504	0.001					ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(790-792)cCg>cTg		tumor necrosis factor receptor superfamily, member 19		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405		0,1,2202	50	45	47		791,791,395,791	-1.9	0	13		47	0,8600		0,0,4300	no	missense,missense,missense,missense	TNFRSF19	NM_148957.3,NM_018647.3,NM_001204459.1,NM_001204458.1	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	264/418,264/424,132/286,264/418	24242173	1,13005	2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24242173C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.791C>T	13.37:g.24242173C>T	ENSP00000371693:p.Pro264Leu					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L	p.P264L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	8	975	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	264					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.791C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066955	0.36470	2.27E-4	0.0	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.76709	-1.04;1.54;-1.04;-1.04	5.71	-1.91	0.07641	.	1.309070	0.04834	N	0.439242	T	0.62429	0.2427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24920	0.003;0.114;0.114	B;B;B	0.15052	0.0;0.012;0.012	T	0.52215	-0.8605	10	0.56958	D	0.05	-4.2253	6.0373	0.19714	0.5379:0.2781:0.184:0.0	.	132;264;264	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	264;132;264;264	ENSP00000248484:P264L;ENSP00000385408:P132L;ENSP00000371693:P264L;ENSP00000371698:P264L	ENSP00000248484:P264L	P	+	2	0	TNFRSF19	23140173	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.097000	0.12307	-0.128000	0.14901	CCG		0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		13	58	0	0	0	1	0	13	58					T	24242173	C	T	24242173	3	4	79	1	0	0	0	0	1	0	0	0	16344	652	23	1	817	1	TNFRSF19	13	24242173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41250	24242173	90927705	14034	24351											
TNFRSF19	55504	broad.mit.edu	37	chr13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccctccaggtaaggcagCgactgggttccctgtgaaca	12	13	0	1	rs201826458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000403372.2_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493																																						ENST00000382258.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1255-1257)Cga>Tga		tumor necrosis factor receptor superfamily, member 19		C	,,stop/ARG,	0,4406		0,0,2203	42	38	39		,,1255,	-7.6	0	13		39	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,stop-gained,intron	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	,,419/424,	24243246	2,13004	2203	4300	6503	SO:0001587	stop_gained	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24243246C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1255C>T	13.37:g.24243246C>T	ENSP00000371693:p.Arg419*					TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_Intron	p.R419*	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	9	1459	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	419					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Nonsense_Mutation	SNP	ENST00000382258.4	37	c.1255C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089515	0.55968	0.0	2.33E-4	ENSG00000127863	ENST00000382258	.	.	.	4.87	-7.61	0.01299	.	2.738200	0.02019	N	0.047642	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8221	11.7108	0.51625	0.0:0.631:0.1263:0.2426	.	.	.	.	X	419	.	.	R	+	1	2	TNFRSF19	23141246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.276000	0.02414	-0.302000	0.09304	CGA		0.493	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		22	170	0	0	0	1	0	22	170					T	24243246	C	T	24243246	4	4	79	1	0	0	0	0	0	1	0	0	16344	760	27	1	1285	1	TNFRSF19	13	24243246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073	24243246	90926632	14035	24352											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465977	24465977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatagggcccatggggccCggtaaaccagttgggcccaa	13	13	0	0	rs200793733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382140.2	-	5	513	c.453G>A	c.(451-453)ccG>ccA	p.P151P	MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382137.3_Silent_p.P151P|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	151	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.P151P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642																																						ENST00000382137.3																			1	Substitution - coding silent(1)	p.P151P(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(451-453)ccG>ccA		C1q and tumor necrosis factor related protein 9B		C	,,	1,4389		0,1,2194	15	22	20		453,231,258	-1.8	0	13		20	4,8586		0,4,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF9B,C1QTNF9B-AS1	NM_001007537.1,NM_001014442.2,NM_001135816.1	,,	0,5,6485	TT,TC,CC		0.0466,0.0228,0.0385	,,	151/334,77/108,86/117	24465977	5,12975	2195	4295	6490	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24465977C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.453G>A	13.37:g.24465977C>T						C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Silent_p.P151P|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron	p.P151P	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	521	-			151			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.453G>A	CCDS31947.1																																																																																				0.642	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		25	247	0	0	0	1	0	25	247					T	24465977	C	T	24465977	2	4	79	1	0	0	0	0	0	0	0	1	1978	639	23	1		1	C1QTNF9B	13	24465977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222731	24465977	90703901	14036	24353											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24471055	24471055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggattccagggtgcccttgcCtgcaggtgtcctgtgagttt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	ENST00000382140.2	-	3	131	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	24	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTGCCCTTGCCTGCAGGTGTC	0.542																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(70-72)aGg>aTg		C1q and tumor necrosis factor related protein 9B							106	101	103					13																	24471055		2202	4281	6483	SO:0001583	missense	387911					collagen		g.chr13:24471055C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.71G>T	13.37:g.24471055C>A	ENSP00000371575:p.Arg24Met					C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R24M|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M	p.R24M	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			1	139	-			24			Collagen-like 1.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.71G>T	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.610796	0.28712	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	3.99	3.14	0.36123	.	0.224693	0.36854	N	0.002374	D	0.84070	0.5391	N	0.04203	-0.255	0.32070	N	0.594517	P;P	0.45827	0.467;0.867	B;P	0.44946	0.386;0.465	D	0.84365	0.0540	10	0.54805	T	0.06	.	6.4274	0.21778	0.0:0.6345:0.2554:0.11	.	24;24	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	M	24	ENSP00000371580:R24M;ENSP00000371572:R24M;ENSP00000371575:R24M;ENSP00000371489:R24M	ENSP00000371489:R24M	R	-	2	0	C1QTNF9B	23369055	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	1.586000	0.36611	0.683000	0.31428	0.298000	0.19748	AGG		0.542	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		35	418	1	0	9.84934e-19	1	1.0948e-18	35	418					A	24471055	C	A	24471055	3	1	79	1	0	0	0	0	1	0	0	0	1978	681	24	3	941	3	C1QTNF9B	13	24471055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	24471055	90698823	14037	24354											
SPATA13	221178	broad.mit.edu	37	chr13	24860906	24860906	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgtgggttgcagttgCgagtgaatcaggaagagctg	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24860906C>T	ENST00000382095.4	+	6	1017	c.610C>T	c.(610-612)Cga>Tga	p.R204*	SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|RP11-307N16.6_ENST00000382141.4_Nonsense_Mutation_p.R707*|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000424834.2_Nonsense_Mutation_p.R829*|SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000409126.1_Intron	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	204	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTGCAGTTGCGAGTGAATCA	0.597																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2485-2487)Cga>Tga		spermatogenesis associated 13							49	48	49					13																	24860906		2203	4300	6503	SO:0001587	stop_gained	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860906C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.610C>T	13.37:g.24860906C>T	ENSP00000371527:p.Arg204*					SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Nonsense_Mutation_p.R204*	p.R829*			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	9	2958	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	204					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Nonsense_Mutation	SNP	ENST00000382095.4	37	c.2485C>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.536955|8.536955	0.98854|0.98854	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000438694;ENST00000399949;ENST00000343003	.|.	.|.	.|.	4.81|4.81	2.95|2.95	0.34219|0.34219	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.38108|.	0.1028|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42531|.	-0.9446|.	3|.	.|0.20046	.|T	.|0.44	.|.	8.7046|8.7046	0.34347|0.34347	0.153:0.7627:0.0:0.0843|0.153:0.7627:0.0:0.0843	.|.	.|.	.|.	.|.	V|X	866|829;204;150;126;148	.|.	.|ENSP00000343631:R148X	A|R	+|+	2|1	0|2	SPATA13|SPATA13	23758906|23758906	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.495000|0.495000	0.33615|0.33615	2.856000|2.856000	0.48341|0.48341	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.597	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		32	156	0	0	0	1	0	32	156					T	24860906	C	T	24860906	4	4	79	1	0	0	0	0	0	1	0	0	15052	760	27	1	2507	1	SPATA13	13	24860906	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389851	24860906	90308972	14038	24355											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgataagatcctgtataacGaattcaaccattatgataca	5	7	1	3	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(688-690)Gaa>Aaa		C1q and tumor necrosis factor related protein 9		G	LYS/GLU	0,4406		0,0,2203	181	160	167		688	3.1	0	13	dbSNP_134	167	3,8597		0,3,4297	no	missense	C1QTNF9	NM_178540.3	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	230/334	24895592	3,13003	2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895592G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.688G>A	13.37:g.24895592G>A	ENSP00000371503:p.Glu230Lys					C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K	p.E230K			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	773	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	230			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.688G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	3.525	-0.097032	0.07010	0.0	3.49E-4	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93906	-3.31;-3.31	3.96	3.1	0.35709	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.90246	0.6950	L	0.60845	1.875	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.82639	-0.0358	10	0.42905	T	0.14	.	10.001	0.41929	0.1676:0.0:0.8324:0.0	.	230	P0C862	C1T9A_HUMAN	K	230	ENSP00000371503:E230K;ENSP00000333737:E230K	ENSP00000333737:E230K	E	+	1	0	C1QTNF9	23793592	0.001000	0.12720	0.026000	0.17262	0.238000	0.25445	0.911000	0.28584	2.180000	0.69256	0.430000	0.28490	GAA		0.428	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		117	550	0	0	0	1	0	117	550					A	24895592	G	A	24895592	3	1	79	1	0	0	0	0	1	0	0	0	1977	1059	37	1	698	1	C1QTNF9	13	24895592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34686	24895592	90274286	14039	24356											
PARP4	143	broad.mit.edu	37	chr13	25008755	25008755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggacatcgacttccttcGagactgcctactgattcttc	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1508					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACTTCCTTCGAGACTGCCTA	0.443																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4522-4524)ctC>ctT		poly (ADP-ribose) polymerase family, member 4							71	73	72					13																	25008755		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008755G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4524C>T	13.37:g.25008755G>A							p.L1508L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4629	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1508					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.4524C>T	CCDS9307.1																																																																																				0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		50	280	0	0	0	1	0	50	280					A	25008755	G	A	25008755	2	1	79	1	0	0	0	0	0	0	0	1	11505	1045	37	1		1	PARP4	13	25008755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113163	25008755	90161123	14040	24357											
PARP4	143	broad.mit.edu	37	chr13	25068788	25068788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatccttgtttcttcaGttcttcaatgtaattttcaa	4	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	222					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTTTCTTCAGTTCTTCAATG	0.323																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(664-666)Ctg>Ttg		poly (ADP-ribose) polymerase family, member 4							150	147	148					13																	25068788		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25068788G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.664C>T	13.37:g.25068788G>A							p.L222L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	7	769	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	222					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.664C>T	CCDS9307.1																																																																																				0.323	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		66	208	0	0	0	1	0	66	208					A	25068788	G	A	25068788	2	1	79	1	0	0	0	0	0	0	0	1	11505	1020	36	2		2	PARP4	13	25068788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60033	25068788	90101090	14041	24358											
PARP4	143	broad.mit.edu	37	chr13	25068831	25068831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcacttgcatcttcagaGgttttctttatagcaaactg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068831G>A	ENST00000381989.3	-	7	726	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	207					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATCTTCAGAGGTTTTCTTTA	0.313																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(619-621)acC>acT		poly (ADP-ribose) polymerase family, member 4							126	124	125					13																	25068831		2202	4299	6501	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25068831G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.621C>T	13.37:g.25068831G>A							p.T207T	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	7	726	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	207					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.621C>T	CCDS9307.1																																																																																				0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		6	273	0	0	0	1	0	6	273					A	25068831	G	A	25068831	2	1	79	1	0	0	0	0	0	0	0	1	11505	987	35	2		2	PARP4	13	25068831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	25068831	90101047	14042	24359											
ATP12A	479	broad.mit.edu	37	chr13	25264557	25264557	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacattgtggaggtcaaaGgaggagaccagatccctgca	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264557G>T	ENST00000381946.3	+	6	795	c.628G>T	c.(628-630)Gga>Tga	p.G210*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.G210*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	210					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGAGGTCAAAGGAGGAGACCA	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(628-630)Gga>Tga		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						97	90	92					13																	25264557		2203	4300	6503	SO:0001587	stop_gained	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264557G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.628G>T	13.37:g.25264557G>T	ENSP00000371372:p.Gly210*					ATP12A_ENST00000381946.3_Nonsense_Mutation_p.G210*	p.G210*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	961	+		Lung SC(185;0.0225)|Breast(139;0.077)	210					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	c.628G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	38	6.705727	0.97776	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	4.75	3.91	0.45181	.	0.081868	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.8938	0.47010	0.0912:0.0:0.9088:0.0	.	.	.	.	X	210	.	ENSP00000218548:G210X	G	+	1	0	ATP12A	24162557	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.595000	0.82710	1.216000	0.43427	-0.150000	0.13652	GGA		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		79	433	1	0	8.27458e-37	1	9.91862e-37	79	433					T	25264557	G	T	25264557	4	4	79	1	0	0	0	0	0	1	0	0	1123	1001	35	3	650	3	ATP12A	13	25264557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195726	25264557	89905321	14043	24360											
ATP12A	479	broad.mit.edu	37	chr13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggagaccagatccctgcaGacatcagggtgctgtcttct	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000381946.3	+	6	816	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	217					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GATCCCTGCAGACATCAGGGT	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(649-651)Gac>Aac		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						91	85	87					13																	25264578		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264578G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.649G>A	13.37:g.25264578G>A	ENSP00000371372:p.Asp217Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.D217N	p.D217N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	982	+		Lung SC(185;0.0225)|Breast(139;0.077)	217					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.649G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024448	0.93518	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99042	-5.36;-5.36	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99962	5.075	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.92	D	0.96736	0.9543	10	0.87932	D	0	.	15.2818	0.73790	0.0:0.0:1.0:0.0	.	217;217	P54707-2;P54707	.;AT12A_HUMAN	N	217	ENSP00000218548:D217N;ENSP00000371372:D217N	ENSP00000218548:D217N	D	+	1	0	ATP12A	24162578	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.371000	0.97162	2.445000	0.82738	0.643000	0.83706	GAC		0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		70	384	0	0	0	1	0	70	384					A	25264578	G	A	25264578	3	1	79	1	0	0	0	0	1	0	0	0	1123	942	33	2	671	2	ATP12A	13	25264578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	25264578	89905300	14044	24361											
ATP12A	479	broad.mit.edu	37	chr13	25268581	25268581	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcttctttgattcccaGaaagctgtgattggagatgc	9	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000381946.3	+	11	1544		c.e11-1		ATP12A_ENST00000218548.6_Splice_Site			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTGATTCCCAGAAAGCTGTGA	0.403											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.e11-1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						105	114	111					13																	25268581		2203	4300	6503	SO:0001630	splice_region_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268581G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1378-1G>T	13.37:g.25268581G>T			OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Splice_Site		NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1728	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37		CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768356	0.69878	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0052	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24166581	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.199000	0.95003	2.620000	0.88729	0.563000	0.77884	.		0.403	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Intron	111	619	1	0	1.39691e-52	1	1.73782e-52	111	619					T	25268581	G	T	25268581	5	4	79	1	0	0	0	0	0	0	1	0	1123	956	33	3	1437	3	ATP12A	13	25268581	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4003	25268581	89901297	14045	24362											
ATP12A	479	broad.mit.edu	37	chr13	25281487	25281487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacattgccgagctgtgCccctttctgatctacatcat	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000381946.3	+	17	2576	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	ATP12A_ENST00000218548.6_Silent_p.C809C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	803					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCGAGCTGTGCCCCTTTCTGA	0.488																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2425-2427)tgC>tgT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						200	192	195					13																	25281487		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25281487C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2409C>T	13.37:g.25281487C>T						ATP12A_ENST00000381946.3_Silent_p.C803C	p.C809C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	17	2760	+		Lung SC(185;0.0225)|Breast(139;0.077)	803					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.2427C>T	CCDS31948.1																																																																																				0.488	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		119	644	0	0	0	1	0	119	644					T	25281487	C	T	25281487	2	4	79	1	0	0	0	0	0	0	0	1	1123	747	26	2		2	ATP12A	13	25281487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	25281487	89888391	14046	24363											
RNF17	56163	broad.mit.edu	37	chr13	25338442	25338442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaaatccagtgcaccaGgtgtggaaggagggtatcca	14	9	0	1	rs199928537	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25338442G>T	ENST00000255324.5	+	1	153	c.101G>T	c.(100-102)aGg>aTg	p.R34M	RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	34					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)			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)		CAGTGCACCAGGTGTGGAAGG	0.642																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(100-102)aGg>aTg		ring finger protein 17							45	34	38					13																	25338442		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.chr13:25338442G>T	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.101G>T	13.37:g.25338442G>T	ENSP00000255324:p.Arg34Met					RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.R34M	p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	1	153	+		Lung SC(185;0.0225)|Breast(139;0.077)	34					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.101G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717879	0.48622	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85339	-1.97;-1.97;-1.97	4.4	2.67	0.31697	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.577385	0.14554	N	0.312493	D	0.83069	0.5174	L	0.27053	0.805	0.21445	N	0.99968	P;P;D	0.67145	0.877;0.877;0.996	B;B;P	0.59288	0.436;0.436;0.855	T	0.71938	-0.4441	10	0.72032	D	0.01	.	6.4691	0.21997	0.2226:0.0:0.7774:0.0	.	34;34;34	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	M	34	ENSP00000255324:R34M;ENSP00000371346:R34M;ENSP00000255325:R34M	ENSP00000255324:R34M	R	+	2	0	RNF17	24236442	0.004000	0.15560	0.415000	0.26534	0.096000	0.18686	0.281000	0.18810	0.502000	0.28037	0.511000	0.50034	AGG		0.642	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	146	1	0	0.184627	1	0.18487	5	146					T	25338442	G	T	25338442	3	4	79	1	0	0	0	0	1	0	0	0	13511	1000	35	3	103	3	RNF17	13	25338442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56955	25338442	89831436	14047	24364											
RNF17	56163	broad.mit.edu	37	chr13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcactttataataaggAattgcctgtgcatatctgta	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000381921.1_Missense_Mutation_p.E917A|RNF17_ENST00000339524.3_5'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	917					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)			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)		TATAATAAGGAATTGCCTGTG	0.294																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2749-2751)gAa>gCa		ring finger protein 17							53	55	54					13																	25418028		2202	4295	6497	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25418028A>C	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.2750A>C	13.37:g.25418028A>C	ENSP00000255324:p.Glu917Ala					RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	20	2802	+		Lung SC(185;0.0225)|Breast(139;0.077)	917					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2750A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352430	0.61293	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09630	2.96;2.96;2.96	4.72	4.72	0.59763	Maternal tudor protein (1);	0.323633	0.29172	N	0.012927	T	0.15869	0.0382	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.93;1.0	D;P;D	0.87578	0.998;0.636;0.995	T	0.17930	-1.0353	10	0.18710	T	0.47	-21.1896	12.0966	0.53758	1.0:0.0:0.0:0.0	.	917;917;917	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	917;917;776;241	ENSP00000255324:E917A;ENSP00000371346:E917A;ENSP00000388892:E241A	ENSP00000255324:E917A	E	+	2	0	RNF17	24316028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.209000	0.65208	2.113000	0.64589	0.482000	0.46254	GAA		0.294	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		42	183	0	0	0	1	0	42	183					C	25418028	A	C	25418028	3	2	79	1	0	0	0	0	1	0	0	0	13511	246	9	4	2828	4	RNF17	13	25418028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79586	25418028	89751850	14048	24365											
RNF17	56163	broad.mit.edu	37	chr13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactacaggaaaacaacacaAcatggccattacctgtgaaa	6	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P|RNF17_ENST00000339524.3_Missense_Mutation_p.T125P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1073					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)			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)		AAACAACACAACATGGCCATT	0.343																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3217-3219)Aca>Cca		ring finger protein 17							101	98	99					13																	25425606		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.chr13:25425606A>C	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.3217A>C	13.37:g.25425606A>C	ENSP00000255324:p.Thr1073Pro					RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	24	3269	+		Lung SC(185;0.0225)|Breast(139;0.077)	1073					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3217A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236299	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.54;3.54;2.78;1.97	4.51	4.51	0.55191	.	0.617926	0.14370	N	0.323835	T	0.24084	0.0583	L	0.54323	1.7	0.41967	D	0.990735	P;P;P;P	0.47191	0.627;0.694;0.891;0.883	B;B;P;B	0.48227	0.188;0.296;0.571;0.368	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.914	5.5124	0.16888	0.6527:0.177:0.0:0.1703	.	1069;125;1073;1073	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	P	1073;1073;932;397;125	ENSP00000255324:T1073P;ENSP00000371346:T1073P;ENSP00000388892:T397P;ENSP00000344776:T125P	ENSP00000255324:T1073P	T	+	1	0	RNF17	24323606	0.036000	0.19791	0.746000	0.31095	0.752000	0.42762	0.614000	0.24314	2.002000	0.58637	0.482000	0.46254	ACA		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		47	208	0	0	0	1	0	47	208					C	25425606	A	C	25425606	3	2	79	1	0	0	0	0	1	0	0	0	13511	43	2	4	3311	4	RNF17	13	25425606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7578	25425606	89744272	14049	24366											
CENPJ	55835	broad.mit.edu	37	chr13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccttgcattggaagaTaatttttcttgtatttttct	5	6	3	1	rs556953003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1096					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATTGGAAGATAATTTTTCTT	0.274																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3286-3288)tAt>tTt		centromere protein J							93	106	101					13																	25463468		2202	4296	6498	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25463468T>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3287A>T	13.37:g.25463468T>A	ENSP00000371308:p.Tyr1096Phe					CENPJ_ENST00000545981.1_Intron	p.Y1096F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	11	3472	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1096					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3287A>T	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.995|8.995	0.978707|0.978707	0.18812|0.18812	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000445729	.|T	.|0.34275	.|1.37	4.82|4.82	1.03|1.03	0.20045|0.20045	.|.	.|0.589219	.|0.16585	.|N	.|0.208016	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.31931	.|0.302;0.347	.|B;B	.|0.32864	.|0.154;0.047	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.10111	.|T	.|0.7	.|.	3.9018|3.9018	0.09164|0.09164	0.0:0.1924:0.1845:0.623|0.0:0.1924:0.1845:0.623	.|.	.|177;1096	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	F|F	177|1096	.|ENSP00000371308:Y1096F	.|ENSP00000371308:Y1096F	L|Y	-|-	3|2	2|0	CENPJ|CENPJ	24361468|24361468	0.359000|0.359000	0.24955|0.24955	0.082000|0.082000	0.20525|0.20525	0.293000|0.293000	0.27360|0.27360	0.300000|0.300000	0.19156|0.19156	0.097000|0.097000	0.17492|0.17492	0.450000|0.450000	0.29827|0.29827	TTA|TAT		0.274	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		80	463	0	0	0	1	0	80	463					A	25463468	T	A	25463468	3	1	79	1	0	0	0	0	1	0	0	0	3243	1406	49	5	757	5	CENPJ	13	25463468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37862	25463468	89706410	14050	24367											
PABPC3	5042	broad.mit.edu	37	chr13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgaagatgcacagaaagCtgtagatgagatgaatggaa	13	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(739-741)gCt>gAt		poly(A) binding protein, cytoplasmic 3							114	103	107					13																	25671076		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671076C>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.740C>A	13.37:g.25671076C>A	ENSP00000281589:p.Ala247Asp						p.A247D	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	777	+		Lung SC(185;0.0225)|Breast(139;0.0602)	247			RRM 3.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.740C>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106558	0.37145	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.46758	U	0.000270	T	0.70718	0.3256	H	0.99325	4.515	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	247	Q9H361	PABP3_HUMAN	D	247	ENSP00000281589:A247D	ENSP00000281589:A247D	A	+	2	0	PABPC3	24569076	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.305000	0.65750	0.759000	0.33084	0.313000	0.20887	GCT		0.423	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		88	381	1	0	7.28744e-38	1	8.7633e-38	88	381					A	25671076	C	A	25671076	3	1	79	1	0	0	0	0	1	0	0	0	11407	797	28	3	742	3	PABPC3	13	25671076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207608	25671076	89498802	14051	24368											
PABPC3	5042	broad.mit.edu	37	chr13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgactaagaccaagtcctcGctggactgctcagggtgcca	11	13	1	1	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	430					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512													g|||	6	0.00119808	0.003	0.0029	5008	,	,		24008	0.0		0.0	False		,,,				2504	0.0					ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1288-1290)cGc>cAc		poly(A) binding protein, cytoplasmic 3		G	HIS/ARG	11,4395	19.1+/-41.9	0,11,2192	160	156	157		1289	0.7	0.7	13	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	29	0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923	benign	430/632	25671625	12,12994	2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671625G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1289G>A	13.37:g.25671625G>A	ENSP00000281589:p.Arg430His						p.R430H	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1326	+		Lung SC(185;0.0225)|Breast(139;0.0602)	430					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1289G>A	CCDS9311.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.73	1.431968	0.25813	0.002497	1.16E-4	ENSG00000151846	ENST00000281589	T	0.30182	1.54	0.664	0.664	0.17890	.	0.428123	0.18857	U	0.129224	T	0.20373	0.0490	M	0.71206	2.165	0.36017	D	0.838447	B	0.26195	0.144	B	0.21708	0.036	T	0.14952	-1.0454	10	0.34782	T	0.22	.	7.0697	0.25171	1.0E-4:0.0:0.9999:0.0	.	430	Q9H361	PABP3_HUMAN	H	430	ENSP00000281589:R430H	ENSP00000281589:R430H	R	+	2	0	PABPC3	24569625	1.000000	0.71417	0.701000	0.30321	0.012000	0.07955	3.832000	0.55783	0.593000	0.29745	0.313000	0.20887	CGC		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		126	706	0	0	0	1	0	126	706					A	25671625	G	A	25671625	3	1	79	1	0	0	0	0	1	0	0	0	11407	1087	38	1	1291	1	PABPC3	13	25671625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	25671625	89498253	14052	24369											
PABPC3	5042	broad.mit.edu	37	chr13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgcccctcctcaaaaGcaaaagcaaatgttaggtga	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	552	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1654-1656)aaG>aaT		poly(A) binding protein, cytoplasmic 3							110	101	104					13																	25671992		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671992G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1656G>T	13.37:g.25671992G>T	ENSP00000281589:p.Lys552Asn						p.K552N	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1693	+		Lung SC(185;0.0225)|Breast(139;0.0602)	552			PABC.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1656G>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249807	0.05867	.	.	ENSG00000151846	ENST00000281589	T	0.46819	0.86	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.134314	0.30959	U	0.008532	T	0.24812	0.0602	N	0.11341	0.13	0.23831	N	0.996722	B	0.06786	0.001	B	0.14023	0.01	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	552	Q9H361	PABP3_HUMAN	N	552	ENSP00000281589:K552N	ENSP00000281589:K552N	K	+	3	2	PABPC3	24569992	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.190000	0.32126	0.759000	0.33084	0.313000	0.20887	AAG		0.453	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		80	409	1	0	4.41824e-40	1	5.35239e-40	80	409					T	25671992	G	T	25671992	3	4	79	1	0	0	0	0	1	0	0	0	11407	962	34	3	1658	3	PABPC3	13	25671992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367	25671992	89497886	14053	24370											
PABPC3	5042	broad.mit.edu	37	chr13	25672226	25672226	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaccggtgttccaacTgtttaaaattgatcagagac	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	630					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1888-1890)acT>acG		poly(A) binding protein, cytoplasmic 3							85	92	89					13																	25672226		2202	4298	6500	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672226T>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1890T>G	13.37:g.25672226T>G							p.T630T	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1927	+		Lung SC(185;0.0225)|Breast(139;0.0602)	630					Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1890T>G	CCDS9311.1																																																																																				0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		119	482	0	0	0	1	0	119	482					G	25672226	T	G	25672226	2	3	79	1	0	0	0	0	0	0	0	1	11407	1567	55	4		4	PABPC3	13	25672226	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	25672226	89497652	14054	24371											
MTMR6	9107	broad.mit.edu	37	chr13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaacccagggaacaaacCtgggaagtcctatcccaacc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	345	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(1033-1035)caG>caT		myotubularin related protein 6							107	96	100					13																	25831394		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25831394C>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1035G>T	13.37:g.25831394C>A	ENSP00000371221:p.Gln345His					MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	9	1796	-		Lung SC(185;0.0225)|Breast(139;0.0351)	345			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1035G>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550865	0.65311	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91577	-2.87;-2.87	5.49	0.0117	0.14088	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94571	0.7771	10	0.87932	D	0	.	8.9037	0.35510	0.0:0.248:0.0:0.752	.	345;345	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	H	345	ENSP00000443161:Q345H;ENSP00000371221:Q345H	ENSP00000371221:Q345H	Q	-	3	2	MTMR6	24729394	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	0.789000	0.26886	0.035000	0.15519	-0.145000	0.13849	CAG		0.398	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		36	144	1	0	6.33695e-27	1	7.31871e-27	36	144					A	25831394	C	A	25831394	3	1	79	1	0	0	0	0	1	0	0	0	9988	680	24	3	854	3	MTMR6	13	25831394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159168	25831394	89338484	14055	24372											
NUPL1	9818	broad.mit.edu	37	chr13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgcagcaccacagggGcctccacatttggatttgga	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000381736.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(1576-1578)Gcc>Acc		nucleoporin like 1							111	118	116					13																	25912815		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25912815G>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1576G>A	13.37:g.25912815G>A	ENSP00000371155:p.Ala526Thr					NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T|NUPL1_ENST00000466694.1_3'UTR	p.A526T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	15	1826	+		Lung SC(185;0.0225)|Breast(139;0.0351)	526			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1576G>A	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108680	0.77096	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.32753	1.44;1.51	5.65	3.92	0.45320	.	0.306795	0.36778	N	0.002417	T	0.22936	0.0554	L	0.38531	1.155	0.37791	D	0.927377	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.08659	-1.0711	10	0.66056	D	0.02	-3.7116	7.1388	0.25543	0.1416:0.0:0.72:0.1384	.	514;526	A6NI12;Q9BVL2	.;NUPL1_HUMAN	T	526;503;514	ENSP00000371155:A526T;ENSP00000371137:A514T	ENSP00000318459:A503T	A	+	1	0	NUPL1	24810815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.325000	0.33724	0.754000	0.32968	0.558000	0.71614	GCC		0.403	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			57	440	0	0	0	1	0	57	440					A	25912815	G	A	25912815	3	1	79	1	0	0	0	0	1	0	0	0	10816	1203	42	2	1634	2	NUPL1	13	25912815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81421	25912815	89257063	14056	24373											
ATP8A2	51761	broad.mit.edu	37	chr13	26535801	26535801	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgtggcatggagagCgtaagtttaacagtgaagcg	15	4	0	4	rs199725711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26535801C>T	ENST00000381655.2	+	34	3414	c.3272C>T	c.(3271-3273)gCa>gTa	p.A1091V	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1051					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATGGAGAGCGTAAGTTTAA	0.473																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.e34+1		ATPase, aminophospholipid transporter, class I, type 8A, member 2		C	VAL/ALA	0,3852		0,0,1926	175	158	163		3272	5.5	1	13		163	1,8285		0,1,4142	yes	missense-near-splice	ATP8A2	NM_016529.4	64	0,1,6068	TT,TC,CC		0.0121,0.0,0.0082	benign	1091/1189	26535801	1,12137	1926	4143	6069	SO:0001630	splice_region_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26535801C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3272+1C>T	13.37:g.26535801C>T						ATP8A2_ENST00000255283.8_Splice_Site_p.A1026_splice	p.A1091_splice	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	34	3414	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1051					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Splice_Site	SNP	ENST00000381655.2	37	c.3272_splice	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125480	0.37533	0.0	1.21E-4	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.41065	1.01;1.01	5.48	5.48	0.80851	.	0.134429	0.48286	D	0.000192	T	0.28962	0.0719	N	0.16862	0.45	0.40851	D	0.98375	B;B	0.19935	0.014;0.04	B;B	0.11329	0.006;0.006	T	0.08432	-1.0722	10	0.18276	T	0.48	.	17.4784	0.87667	0.0:1.0:0.0:0.0	.	1026;1051	B7Z880;Q9NTI2	.;AT8A2_HUMAN	V	1091;1026;871	ENSP00000371070:A1091V;ENSP00000255283:A1026V	ENSP00000255283:A1026V	A	+	2	0	ATP8A2	25433801	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.937000	0.56575	2.722000	0.93159	0.650000	0.86243	GCA		0.473	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	Missense_Mutation	66	349	0	0	0	1	0	66	349					T	26535801	C	T	26535801	5	4	79	1	0	0	0	0	0	0	1	0	1194	782	27	1	3406	1	ATP8A2	13	26535801	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	622986	26535801	88634077	14057	24374											
RNF6	6049	broad.mit.edu	37	chr13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaagttctgactcagaAtcggcctccattagagaact	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	501					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1501-1503)gaT>gaG		ring finger protein (C3H2C3 type) 6							74	70	71					13																	26788516		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788516A>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1503T>G	13.37:g.26788516A>C	ENSP00000371000:p.Asp501Glu					RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000468480.1_Intron	p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2255	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	501					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1503T>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	A	1.620	-0.521653	0.04171	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15487	3.05;3.05;3.05;2.42	4.64	0.627	0.17675	.	0.058299	0.64402	N	0.000002	T	0.03178	0.0093	N	0.01146	-0.985	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34551	-0.9824	10	0.05525	T	0.97	-10.5683	1.0214	0.01519	0.1494:0.1914:0.1526:0.5066	.	145;501	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	501;501;501;145	ENSP00000342121:D501E;ENSP00000371000:D501E;ENSP00000370982:D501E;ENSP00000382665:D145E	ENSP00000342121:D501E	D	-	3	2	RNF6	25686516	0.997000	0.39634	0.853000	0.33588	0.872000	0.50106	0.373000	0.20484	0.031000	0.15407	-0.399000	0.06403	GAT		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		58	286	0	0	0	1	0	58	286					C	26788516	A	C	26788516	3	2	79	1	0	0	0	0	1	0	0	0	13548	98	4	4	558	4	RNF6	13	26788516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252715	26788516	88381362	14058	24375											
CDK8	1024	broad.mit.edu	37	chr13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaaagccaagaggaaAgatgggtgagtgtgtgtgtc	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAAGAGGAAAGATGGGTGAG	0.667																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(121-123)aaA>aaC		cyclin-dependent kinase 8							148	137	141					13																	26828901		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26828901A>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.123A>C	13.37:g.26828901A>C	ENSP00000370938:p.Lys41Asn					CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	1	626	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	41			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.123A>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125293	0.77436	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.25	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.72930	0.3522	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	P;D	0.66351	0.905;0.943	T	0.72117	-0.4387	10	0.87932	D	0	-8.8879	9.6921	0.40134	0.6975:0.0:0.3025:0.0	.	41;41	P49336-2;P49336	.;CDK8_HUMAN	N	41	ENSP00000370938:K41N;ENSP00000437696:K41N	ENSP00000370938:K41N	K	+	3	2	CDK8	25726901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	0.245000	0.21373	0.459000	0.35465	AAA		0.667	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			24	140	0	0	0	1	0	24	140					C	26828901	A	C	26828901	3	2	79	1	0	0	0	0	1	0	0	0	3159	69	3	4	125	4	CDK8	13	26828901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40385	26828901	88340977	14059	24376											
CDK8	1024	broad.mit.edu	37	chr13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgataggaaggtgtgGcttctgtttgactatgctga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGAAGGTGTGGCTTCTGTTTG	0.413																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(280-282)tgG>tgA		cyclin-dependent kinase 8							221	198	205					13																	26923286		2203	4300	6503	SO:0001587	stop_gained	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26923286G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.282G>A	13.37:g.26923286G>A	ENSP00000370938:p.Trp94*					CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	3	785	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	94			Protein kinase.		Q5VUF3|Q6ISB5	Nonsense_Mutation	SNP	ENST00000381527.3	37	c.282G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441608	0.96187	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	.	.	.	4.97	4.97	0.65823	.	0.059337	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.1766	18.2519	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000370938:W94X	W	+	3	0	CDK8	25821286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	TGG		0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			118	615	0	0	0	1	0	118	615					A	26923286	G	A	26923286	4	1	79	1	0	0	0	0	0	1	0	0	3159	1212	42	2	292	2	CDK8	13	26923286	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94385	26923286	88246592	14060	24377											
CDK8	1024	broad.mit.edu	37	chr13	26923313	26923313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactatgctgaacatgaCctctgggtaaggtgaattgc	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGAACATGACCTCTGGGTAA	0.413																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(307-309)gaC>gaT		cyclin-dependent kinase 8							186	164	172					13																	26923313		2203	4300	6503	SO:0001819	synonymous_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26923313C>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.309C>T	13.37:g.26923313C>T						CDK8_ENST00000536792.1_Silent_p.D103D	p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	3	812	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	103			Protein kinase.		Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	c.309C>T	CCDS9317.1																																																																																				0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			27	601	0	0	0	1	0	27	601					T	26923313	C	T	26923313	2	4	79	1	0	0	0	0	0	0	0	1	3159	506	18	2		2	CDK8	13	26923313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	26923313	88246565	14061	24378											
WASF3	10810	broad.mit.edu	37	chr13	27255212	27255212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgcatcggacgttacGgattactcttacccggctac	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000335327.5	+	8	916	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_ENST00000361042.4_Silent_p.T243T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	246					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(727-729)acG>acA		WAS protein family, member 3							87	97	94					13																	27255212		2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255212G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.738G>A	13.37:g.27255212G>A						WASF3_ENST00000335327.5_Silent_p.T246T	p.T243T			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	954	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	246					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.729G>A	CCDS9318.1																																																																																				0.498	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			140	624	0	0	0	1	0	140	624					A	27255212	G	A	27255212	2	1	79	1	0	0	0	0	0	0	0	1	17308	1103	39	1		1	WASF3	13	27255212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331899	27255212	87914666	14062	24379											
GPR12	2835	broad.mit.edu	37	chr13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtacagtgagaggtagCggtcaacagtgatagccagc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000381436.2	-	1	875	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000405846.3_Missense_Mutation_p.R138H			P47775	GPR12_HUMAN	G protein-coupled receptor 12	138					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(412-414)cGc>cAc		G protein-coupled receptor 12							106	91	96					13																	27333552		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr13:27333552C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.413G>A	13.37:g.27333552C>T	ENSP00000370844:p.Arg138His					GPR12_ENST00000381436.2_Missense_Mutation_p.R138H	p.R138H	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	634	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	138					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.413G>A	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992314	0.93167	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	D;D	0.97161	-4.27;-4.27	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	138	P47775	GPR12_HUMAN	H	138	ENSP00000384932:R138H;ENSP00000370844:R138H	ENSP00000370844:R138H	R	-	2	0	GPR12	26231552	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	CGC		0.552	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			67	279	0	0	0	1	0	67	279					T	27333552	C	T	27333552	3	4	79	1	0	0	0	0	1	0	0	0	6664	768	27	1	595	1	GPR12	13	27333552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78340	27333552	87836326	14063	24380											
GPR12	2835	broad.mit.edu	37	chr13	27333952	27333952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcttaaattgaccttcaGgtcttcattcattttaaccc	4	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000381436.2	-	1	475	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	5					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(13-15)Ctg>Ttg		G protein-coupled receptor 12							31	36	34					13																	27333952		2200	4299	6499	SO:0001819	synonymous_variant	0					integral to plasma membrane		g.chr13:27333952G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.13C>T	13.37:g.27333952G>A						GPR12_ENST00000381436.2_Silent_p.L5L	p.L5L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	234	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	5					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.13C>T	CCDS9319.1																																																																																				0.478	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			58	269	0	0	0	1	0	58	269					A	27333952	G	A	27333952	2	1	79	1	0	0	0	0	0	0	0	1	6664	991	35	2		2	GPR12	13	27333952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	27333952	87835926	14064	24381											
USP12	219333	broad.mit.edu	37	chr13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcagtcccgagactgataGaaaaggatgtaaccagactc	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	365	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GAGACTGATAGAAAAGGATGT	0.398																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1093-1095)ttC>ttA		ubiquitin specific peptidase 12							111	105	107					13																	27643438		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27643438G>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.1095C>A	13.37:g.27643438G>T	ENSP00000282344:p.Phe365Leu						p.F365L	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	9	1351	-		Lung SC(185;0.0161)	365					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.1095C>A	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844601	0.71488	.	.	ENSG00000152484	ENST00000282344	T	0.39056	1.1	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69614	-0.5098	10	0.72032	D	0.01	-14.351	19.4565	0.94892	0.0:0.0:1.0:0.0	.	365	O75317	UBP12_HUMAN	L	365	ENSP00000282344:F365L	ENSP00000282344:F365L	F	-	3	2	USP12	26541438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.682000	0.91365	0.650000	0.86243	TTC		0.398	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		39	362	1	0	2.40579e-17	1	2.65515e-17	39	362					T	27643438	G	T	27643438	3	4	79	1	0	0	0	0	1	0	0	0	17097	933	33	3	21	3	USP12	13	27643438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309486	27643438	87526440	14065	24382											
USP12	219333	broad.mit.edu	37	chr13	27645271	27645271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaactattgcaatataatgGcctcgattgggaccactaaa	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	316	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAATATAATGGCCTCGATTGG	0.274																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(946-948)ggC>ggT		ubiquitin specific peptidase 12							67	66	66					13																	27645271		2203	4297	6500	SO:0001819	synonymous_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27645271G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.948C>T	13.37:g.27645271G>A							p.G316G	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	8	1204	-		Lung SC(185;0.0161)	316					A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	c.948C>T	CCDS31952.1																																																																																				0.274	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		19	210	0	0	0	1	0	19	210					A	27645271	G	A	27645271	2	1	79	1	0	0	0	0	0	0	0	1	17097	1190	42	2		2	USP12	13	27645271	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1833	27645271	87524607	14066	24383											
RPL21	6144	broad.mit.edu	37	chr13	27829420	27829420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgccccacaagtgttaCcatggcaaaactggaagagt	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_ENST00000272274.4_Silent_p.Y57Y|SNORA27_ENST00000384323.1_RNA|SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000326092.4_Silent_p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	57					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378																																						ENST00000311549.6																			0				large_intestine(1)|lung(1)	2						c.(169-171)taC>taT		ribosomal protein L21							83	86	85					13																	27829420		2203	4298	6501	SO:0001819	synonymous_variant	6144				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr13:27829420C>T	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"L ribosomal proteins"	10313	protein-coding gene	gene with protein product	"60S ribosomal protein L21"	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.171C>T	13.37:g.27829420C>T						RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y	p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)	4	460	+		Lung SC(185;0.0156)	57					Q16699	Silent	SNP	ENST00000311549.6	37	c.171C>T	CCDS9320.1																																																																																				0.378	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		66	256	0	0	0	1	0	66	256					T	27829420	C	T	27829420	2	4	79	1	0	0	0	0	0	0	0	1	13617	518	18	2		2	RPL21	13	27829420	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184149	27829420	87340458	14067	24384											
GTF3A	219402	broad.mit.edu	37	chr13	28009581	28009581	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaggtcaaaaaatcTcgtgaaaaacggagtttggc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28009581T>C	ENST00000381116.1	-	0	1104				GTF3A_ENST00000470606.1_3'UTR|MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000381140.4_Silent_p.S315S			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TCAAAAAATCTCGTGAAAAAC	0.393																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(943-945)tcT>tcC		general transcription factor IIIA							71	61	64					13																	28009581		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28009581T>C	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009581T>C						GTF3A_ENST00000470606.1_3'UTR	p.S315S	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	9	1139	+		Lung SC(185;0.0156)	315					Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	c.945T>C	CCDS9322.1																																																																																				0.393	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		14	71	0	0	0	1	0	14	71					C	28009581	T	C	28009581	1	2	79	0	1	0	0	0	0	0	0	0	6901	1538	54	4		4	GTF3A	13	28009581	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	180161	28009581	87160297	14068	24385											
PDX1	3651	broad.mit.edu	37	chr13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcggcgcctacgctgCggagccggaggagaacaagc	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687																																						ENST00000381033.4																			0											c.(421-423)gCg>gTg		pancreatic and duodenal homeobox 1							18	20	20					13																	28498408		2199	4298	6497	SO:0001583	missense	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28498408C>T	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.422C>T	13.37:g.28498408C>T	ENSP00000370421:p.Ala141Val						p.A141V	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	541	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	141					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	c.422C>T	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795312	0.16327	.	.	ENSG00000139515	ENST00000381033	D	0.95622	-3.76	5.01	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);	0.225794	0.45867	N	0.000321	T	0.78991	0.4371	N	0.01048	-1.04	0.38873	D	0.956732	B	0.10296	0.003	B	0.06405	0.002	T	0.74028	-0.3796	10	0.02654	T	1	.	4.2161	0.10535	0.0:0.5026:0.0:0.4974	.	141	P52945	PDX1_HUMAN	V	141	ENSP00000370421:A141V	ENSP00000370421:A141V	A	+	2	0	PDX1	27396408	0.756000	0.28383	0.178000	0.23040	0.490000	0.33462	1.051000	0.30417	1.232000	0.43678	0.561000	0.74099	GCG		0.687	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209		26	102	0	0	0	1	0	26	102					T	28498408	C	T	28498408	3	4	79	1	0	0	0	0	1	0	0	0	11737	768	27	1	428	1	PDX1	13	28498408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488827	28498408	86671470	14069	24386											
FLT3	2322	broad.mit.edu	37	chr13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtgtgcacgcccccaGcaggttcacaatattctcgt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000241453.7	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000380982.4_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2032-2034)Ctg>Atg		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						97	80	85					13																	28602336		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28602336G>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2032C>A	13.37:g.28602336G>T	ENSP00000241453:p.Leu678Met					FLT3_ENST00000537084.1_Missense_Mutation_p.L678M|FLT3_ENST00000241453.7_Missense_Mutation_p.L678M	p.L678M			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	16	2113	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	678			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2032C>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141517	0.57044	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.90563	-2.69;-2.69;-2.69	5.71	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.92485	0.7614	L	0.45285	1.41	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92867	0.6311	10	0.87932	D	0	.	12.2545	0.54617	0.2053:0.0:0.7947:0.0	.	678;678	P36888-2;P36888	.;FLT3_HUMAN	M	678	ENSP00000241453:L678M;ENSP00000370369:L678M;ENSP00000438139:L678M	ENSP00000241453:L678M	L	-	1	2	FLT3	27500336	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.265000	0.43311	1.410000	0.46936	0.555000	0.69702	CTG		0.473	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			44	163	1	0	1.61004e-24	1	1.84098e-24	44	163					T	28602336	G	T	28602336	3	4	79	1	0	0	0	0	1	0	0	0	5967	962	34	3	985	3	FLT3	13	28602336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103928	28602336	86567542	14070	24387											
FLT3	2322	broad.mit.edu	37	chr13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaacaactgttgtacctgGagagtttaaaaggatcgtct	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000241453.7	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000380982.4_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	532					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1594-1596)Cca>Tca		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						147	135	139					13																	28609635		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609635G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1594C>T	13.37:g.28609635G>A	ENSP00000241453:p.Pro532Ser					FLT3_ENST00000537084.1_Missense_Mutation_p.P532S|FLT3_ENST00000241453.7_Missense_Mutation_p.P532S	p.P532S			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1675	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	532					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1594C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528006	0.13127	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.83	5.18	0.272	0.15645	.	0.509728	0.19645	N	0.109344	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30851	-0.9964	10	0.05620	T	0.96	.	0.5181	0.00607	0.3086:0.1247:0.3114:0.2554	.	532;532	P36888-2;P36888	.;FLT3_HUMAN	S	532	ENSP00000241453:P532S;ENSP00000370369:P532S;ENSP00000438139:P532S	ENSP00000241453:P532S	P	-	1	0	FLT3	27507635	0.000000	0.05858	0.041000	0.18516	0.370000	0.29829	-0.630000	0.05502	-0.207000	0.10187	0.650000	0.86243	CCA		0.438	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			75	295	0	0	0	1	0	75	295					A	28609635	G	A	28609635	3	1	79	1	0	0	0	0	1	0	0	0	5967	1174	41	2	1439	2	FLT3	13	28609635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7299	28609635	86560243	14071	24388											
PAN3	255967	broad.mit.edu	37	chr13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagattctgataactgGcaaaacaaggtactagcatt	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000380958.3	+	13	2101	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PAN3_ENST00000399613.1_Missense_Mutation_p.G450V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGATAACTGGCAAAACAAGG	0.363																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1348-1350)gGc>gTc		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							161	152	155					13																	28844994		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28844994G>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1949G>T	13.37:g.28844994G>T	ENSP00000370345:p.Gly650Val					PAN3_ENST00000380958.3_Missense_Mutation_p.G650V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V	p.G450V			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	12	1412	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	650			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1349G>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809788	0.90707	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;0.98;0.98	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043637	0.85682	D	0.000000	T	0.64897	0.2640	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.63880	0.975;0.968;0.904;0.993	P;P;P;P	0.61533	0.848;0.732;0.463;0.89	T	0.65681	-0.6109	10	0.49607	T	0.09	-7.5491	19.5822	0.95471	0.0:0.0:1.0:0.0	.	650;650;338;596	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	V	650;450;338	ENSP00000370345:G650V;ENSP00000382522:G450V;ENSP00000282391:G338V	ENSP00000282391:G338V	G	+	2	0	PAN3	27742994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.704000	0.92352	0.563000	0.77884	GGC		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		85	601	1	0	3.77759e-48	1	4.65876e-48	85	601					T	28844994	G	T	28844994	3	4	79	1	0	0	0	0	1	0	0	0	11457	1203	42	3	1999	3	PAN3	13	28844994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235359	28844994	86324884	14072	24389											
FLT1	2321	broad.mit.edu	37	chr13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatttgcagtattcaacaAtcaccatcagaggccctgca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2722-2724)aTt>aGt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						80	75	77					13																	28901672		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28901672A>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2723T>G	13.37:g.28901672A>C	ENSP00000282397:p.Ile908Ser					FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	p.I908S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	20	2974	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	908			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2723T>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515385	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.86432	-2.12;-2.12	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95345	0.8441	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	908	P17948	VGFR1_HUMAN	S	908;126	ENSP00000282397:I908S;ENSP00000443311:I126S	ENSP00000282397:I908S	I	-	2	0	FLT1	27799672	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	ATT		0.458	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			32	161	0	0	0	1	0	32	161					C	28901672	A	C	28901672	3	2	79	1	0	0	0	0	1	0	0	0	5966	101	4	4	1337	4	FLT1	13	28901672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56678	28901672	86268206	14073	24390											
FLT1	2321	broad.mit.edu	37	chr13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggccattttttgcttgCtaatactgtagtgcattgtt	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	605	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGCTTGCTAATACTGTA	0.418																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1813-1815)aGc>aAc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						302	254	270					13																	28964088		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28964088C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1814G>A	13.37:g.28964088C>T	ENSP00000282397:p.Ser605Asn					FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	13	2065	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	605			Ig-like C2-type 6.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1814G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.75938	-0.98;-0.42	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545972	0.21229	N	0.078019	T	0.69682	0.3138	L	0.46157	1.445	0.80722	D	1	B;B;P	0.37594	0.077;0.029;0.601	B;B;B	0.36719	0.046;0.046;0.231	T	0.65582	-0.6133	10	0.22706	T	0.39	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	605;605;605	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	605	ENSP00000282397:S605N;ENSP00000437631:S605N	ENSP00000282397:S605N	S	-	2	0	FLT1	27862088	0.982000	0.34865	0.953000	0.39169	0.981000	0.71138	1.841000	0.39240	2.880000	0.98712	0.650000	0.86243	AGC		0.418	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			28	677	0	0	0	1	0	28	677					T	28964088	C	T	28964088	3	4	79	1	0	0	0	0	1	0	0	0	5966	797	28	2	2459	2	FLT1	13	28964088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62416	28964088	86205790	14074	24391											
SLC46A3	283537	broad.mit.edu	37	chr13	29287142	29287142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttaaaaagcatgtaAgttcggtaaaataggttttt	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000266943.6	-	3	1104	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(733-735)acT>acC		solute carrier family 46, member 3							42	42	42					13																	29287142		2203	4298	6501	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287142A>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.735T>C	13.37:g.29287142A>G						SLC46A3_ENST00000380814.4_Silent_p.T245T	p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	1104	-		Lung SC(185;0.0367)	245					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.735T>C	CCDS9332.1																																																																																				0.333	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		31	132	0	0	0	1	0	31	132					G	29287142	A	G	29287142	2	3	79	1	0	0	0	0	0	0	0	1	14696	59	3	4		4	SLC46A3	13	29287142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	323054	29287142	85882736	14075	24392											
SLC46A3	283537	broad.mit.edu	37	chr13	29287292	29287292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagaaacgaccactcaaaAcctagctctctaataaaata	3	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000266943.6	-	3	954	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000380814.4_Silent_p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	195					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCACTCAAAACCTAGCTCTC	0.348																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(583-585)ggT>ggC		solute carrier family 46, member 3							54	52	52					13																	29287292		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287292A>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.585T>C	13.37:g.29287292A>G						SLC46A3_ENST00000380814.4_Silent_p.G195G	p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	954	-		Lung SC(185;0.0367)	195					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.585T>C	CCDS9332.1																																																																																				0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		62	239	0	0	0	1	0	62	239					G	29287292	A	G	29287292	2	3	79	1	0	0	0	0	0	0	0	1	14696	30	2	4		4	SLC46A3	13	29287292	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	29287292	85882586	14076	24393											
MTUS2	23281	broad.mit.edu	37	chr13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaggggccacagaagAcattgccagaccacgctgtc	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	219						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(685-687)Aca>Gca		microtubule associated tumor suppressor candidate 2							40	42	41					13																	29599490		2198	4300	6498	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599490A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.685A>G	13.37:g.29599490A>G	ENSP00000392057:p.Thr229Ala						p.T229A	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	743	+			219					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.685A>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.392520	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.14893	2.47	5.49	1.63	0.23807	.	0.382752	0.22018	N	0.065762	T	0.11367	0.0277	L	0.47716	1.5	0.09310	N	1	P	0.42296	0.775	B	0.38156	0.266	T	0.15723	-1.0427	9	.	.	.	.	2.0027	0.03471	0.5035:0.1441:0.0754:0.2771	.	219	Q5JR59	MTUS2_HUMAN	A	229	ENSP00000392057:T229A	.	T	+	1	0	MTUS2	28497490	0.581000	0.26741	0.002000	0.10522	0.369000	0.29798	1.212000	0.32394	0.332000	0.23536	0.459000	0.35465	ACA		0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		56	191	0	0	0	1	0	56	191					G	29599490	A	G	29599490	3	3	79	1	0	0	0	0	1	0	0	0	10007	275	10	4	687	4	MTUS2	13	29599490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312198	29599490	85570388	14077	24394											
SLC7A1	6541	broad.mit.edu	37	chr13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctgccagtttttaaccGatcctttcacaaatcctgac	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	213					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(637-639)tCg>tTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						165	167	166					13																	30104741		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30104741G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.638C>T	13.37:g.30104741G>A	ENSP00000370128:p.Ser213Leu						p.S213L	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	5	1024	-		Lung SC(185;0.0257)|Breast(139;0.238)	213					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.638C>T	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905349	0.52333	.	.	ENSG00000139514	ENST00000380752	D	0.90004	-2.6	4.73	2.9	0.33743	Amino acid permease domain (1);	0.334522	0.35646	N	0.003073	D	0.89653	0.6777	L	0.61218	1.895	0.09310	N	0.999999	P	0.48230	0.907	P	0.49276	0.605	D	0.83567	0.0110	10	0.72032	D	0.01	.	14.0371	0.64651	0.0:0.2884:0.7116:0.0	.	213	P30825	CTR1_HUMAN	L	213	ENSP00000370128:S213L	ENSP00000370128:S213L	S	-	2	0	SLC7A1	29002741	1.000000	0.71417	0.037000	0.18230	0.596000	0.36781	4.254000	0.58798	0.651000	0.30788	0.655000	0.94253	TCG		0.448	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		124	575	0	0	0	1	0	124	575					A	30104741	G	A	30104741	3	1	79	1	0	0	0	0	1	0	0	0	14742	1059	37	1	1287	1	SLC7A1	13	30104741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505251	30104741	85065137	14078	24395											
UBL3	5412	broad.mit.edu	37	chr13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttacaggattacacaacaAttactctctccagtcttctc	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	112						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTACACAACAATTACTCTCTC	0.433																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(334-336)aaT>aaG		ubiquitin-like 3							127	104	112					13																	30341410		2203	4300	6503	SO:0001583	missense	5412					intracellular|plasma membrane		g.chr13:30341410A>C	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.336T>G	13.37:g.30341410A>C	ENSP00000370055:p.Asn112Lys						p.N112K	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	5	1481	-		Lung SC(185;0.0281)	112					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.336T>G	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089414	0.55968	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.6	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	N	0.08118	0	0.53688	D	0.999978	B	0.15141	0.012	B	0.14578	0.011	T	0.02533	-1.1145	9	0.27785	T	0.31	-9.8642	13.6483	0.62294	0.4808:0.0:0.5192:0.0	.	112	O95164	UBL3_HUMAN	K	112	.	ENSP00000370055:N112K	N	-	3	2	UBL3	29239410	1.000000	0.71417	0.503000	0.27626	0.995000	0.86356	0.770000	0.26618	-1.518000	0.01778	0.455000	0.32223	AAT		0.433	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		48	266	0	0	0	1	0	48	266					C	30341410	A	C	30341410	3	2	79	1	0	0	0	0	1	0	0	0	16940	98	4	4	21	4	UBL3	13	30341410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236669	30341410	84828468	14079	24396											
KATNAL1	84056	broad.mit.edu	37	chr13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaatgtctctttcaagggCttccaccagatccttatcat	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383																																						ENST00000380615.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19						c.(577-579)Gcc>Acc		katanin p60 subunit A-like 1							182	162	169					13																	30815139		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30815139C>T	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.577G>A	13.37:g.30815139C>T	ENSP00000369989:p.Ala193Thr					KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	p.A193T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	5	744	-		Lung SC(185;0.0257)	193						Missense_Mutation	SNP	ENST00000380615.3	37	c.577G>A	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403286	0.11754	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94280	-3.39;-3.39	5.56	4.71	0.59529	.	0.244503	0.40385	N	0.001120	D	0.88171	0.6365	L	0.28740	0.885	0.50171	D	0.999854	B	0.16396	0.017	B	0.15484	0.013	T	0.83204	-0.0077	10	0.19590	T	0.45	-18.8873	14.5621	0.68148	0.0:0.9297:0.0:0.0703	.	193	Q9BW62	KATL1_HUMAN	T	193	ENSP00000369989:A193T;ENSP00000369991:A193T	ENSP00000369989:A193T	A	-	1	0	KATNAL1	29713139	0.851000	0.29673	0.665000	0.29768	0.996000	0.88848	1.757000	0.38400	1.356000	0.45884	0.650000	0.86243	GCC		0.383	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		65	398	0	0	0	1	0	65	398					T	30815139	C	T	30815139	3	4	79	1	0	0	0	0	1	0	0	0	8015	797	28	2	923	2	KATNAL1	13	30815139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473729	30815139	84354739	14080	24397											
USPL1	10208	broad.mit.edu	37	chr13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatataccagtcaattgaGtggtgttaaaggttggtact	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	286	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTCAATTGAGTGGTGTTAAA	0.388																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(856-858)aGt>aTt		ubiquitin specific peptidase like 1							52	54	53					13																	31205600		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205600G>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.857G>T	13.37:g.31205600G>T	ENSP00000255304:p.Ser286Ile					USPL1_ENST00000465952.1_3'UTR	p.S286I	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	1199	+		Lung SC(185;0.0257)|Breast(139;0.203)	286					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.857G>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338550	0.11069	.	.	ENSG00000132952	ENST00000255304	T	0.45668	0.89	5.94	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.861583	0.10458	N	0.672337	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	P	0.38420	0.63	B	0.37198	0.243	T	0.12066	-1.0562	10	0.66056	D	0.02	-7.2908	4.059	0.09829	0.4979:0.1821:0.3201:0.0	.	286	Q5W0Q7	USPL1_HUMAN	I	286	ENSP00000255304:S286I	ENSP00000255304:S286I	S	+	2	0	USPL1	30103600	0.017000	0.18338	0.007000	0.13788	0.016000	0.09150	0.586000	0.23894	0.517000	0.28361	-0.367000	0.07326	AGT		0.388	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		59	357	1	0	1.73933e-33	1	2.06204e-33	59	357					T	31205600	G	T	31205600	3	4	79	1	0	0	0	0	1	0	0	0	17146	1029	36	3	867	3	USPL1	13	31205600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390461	31205600	83964278	14081	24398											
USPL1	10208	broad.mit.edu	37	chr13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctaatttgaagaaaaaagAaactacagcagattctcaaa	5	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	729					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAAAGAAACTACAGCA	0.363																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(2185-2187)gAa>gCa		ubiquitin specific peptidase like 1							60	63	62					13																	31232400		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232400A>C	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2186A>C	13.37:g.31232400A>C	ENSP00000255304:p.Glu729Ala						p.E729A	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2528	+		Lung SC(185;0.0257)|Breast(139;0.203)	729					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2186A>C	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513919	0.27123	.	.	ENSG00000132952	ENST00000255304	T	0.15603	2.41	5.38	5.38	0.77491	.	0.683044	0.15114	N	0.279779	T	0.25717	0.0626	L	0.60455	1.87	0.09310	N	1	P	0.49559	0.925	P	0.47075	0.536	T	0.10222	-1.0639	10	0.41790	T	0.15	-18.7669	13.9512	0.64118	1.0:0.0:0.0:0.0	.	729	Q5W0Q7	USPL1_HUMAN	A	729	ENSP00000255304:E729A	ENSP00000255304:E729A	E	+	2	0	USPL1	30130400	0.910000	0.30920	0.140000	0.22221	0.121000	0.20230	5.665000	0.68052	2.040000	0.60383	0.533000	0.62120	GAA		0.363	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		95	363	0	0	0	1	0	95	363					C	31232400	A	C	31232400	3	2	79	1	0	0	0	0	1	0	0	0	17146	246	9	4	2216	4	USPL1	13	31232400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26800	31232400	83937478	14082	24399											
USPL1	10208	broad.mit.edu	37	chr13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtctaatggcacagctgCccacccacatgctcatgctg	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	840					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCACAGCTGCCCACCCACAT	0.507																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(2518-2520)gCc>gTc		ubiquitin specific peptidase like 1							79	77	78					13																	31232733		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232733C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2519C>T	13.37:g.31232733C>T	ENSP00000255304:p.Ala840Val						p.A840V	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2861	+		Lung SC(185;0.0257)|Breast(139;0.203)	840					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2519C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771724	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.15017	2.46	5.52	2.13	0.27403	.	1.346150	0.04664	N	0.409519	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.37144	0.242	T	0.23726	-1.0180	10	0.40728	T	0.16	-1.4166	3.6569	0.08223	0.2388:0.4877:0.0:0.2735	.	840	Q5W0Q7	USPL1_HUMAN	V	840	ENSP00000255304:A840V	ENSP00000255304:A840V	A	+	2	0	USPL1	30130733	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.441000	0.06879	0.557000	0.29117	0.561000	0.74099	GCC		0.507	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		66	366	0	0	0	1	0	66	366					T	31232733	C	T	31232733	3	4	79	1	0	0	0	0	1	0	0	0	17146	739	26	2	2549	2	USPL1	13	31232733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	31232733	83937145	14083	24400											
C13orf33	84935	broad.mit.edu	37	chr13	31491584	31491584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattataaagactacagggAaactatattgagcaaaccaa	7	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31491584A>G	ENST00000380482.4	+	2	648	c.323A>G	c.(322-324)gAa>gGa	p.E108G	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	108					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											GACTACAGGGAAACTATATTG	0.343																																						ENST00000380482.4																			0											c.(322-324)gAa>gGa		mesenteric estrogen-dependent adipogenesis							139	136	137					13																	31491584		2203	4300	6503	SO:0001583	missense	84935							g.chr13:31491584A>G	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.323A>G	13.37:g.31491584A>G	ENSP00000369849:p.Glu108Gly					TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	p.E108G	NM_032849.3	NP_116238.2					2	648	+								Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	c.323A>G	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.075538|4.075538	0.76415|0.76415	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.51325|.	0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.213853|.	0.48286|.	D|.	0.000193|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.29908|0.29908	0.895|0.895	0.38727|0.38727	D|D	0.953585|0.953585	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.72032|.	D|.	0.01|.	-12.3709|-12.3709	13.2421|13.2421	0.60002|0.60002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	108|.	Q5VYS4|.	CM033_HUMAN|.	G|E	108|45	ENSP00000369849:E108G|.	ENSP00000369849:E108G|.	E|K	+|+	2|1	0|0	C13orf33|C13orf33	30389584|30389584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	5.115000|5.115000	0.64655|0.64655	2.113000|2.113000	0.64589|0.64589	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.343	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		58	257	0	0	0	1	0	58	257					G	31491584	A	G	31491584	3	3	79	1	0	0	0	0	1	0	0	0	1732	246	9	4	329	4	C13orf33	13	31491584	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	258851	31491584	83678294	14084	24401											
C13orf33	84935	broad.mit.edu	37	chr13	31495263	31495263	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagttaccggcttcaGgtaagcctagcctgtctgaa	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31495263G>T	ENST00000380482.4	+	3	826	c.501G>T	c.(499-501)caG>caT	p.Q167H	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	167					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ACCGGCTTCAGGTAAGCCTAG	0.507																																						ENST00000380482.4																			0											c.e3+1		mesenteric estrogen-dependent adipogenesis							95	82	86					13																	31495263		2203	4300	6503	SO:0001630	splice_region_variant	84935							g.chr13:31495263G>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.501+1G>T	13.37:g.31495263G>T						TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	p.Q167_splice	NM_032849.3	NP_116238.2					3	826	+								Q8IXF1|Q96K26|Q96NC8	Splice_Site	SNP	ENST00000380482.4	37	c.501_splice	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996779|2.996779	0.54147|0.54147	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.47869|.	0.83|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.195191|.	0.45606|.	D|.	0.000345|.	T|T	0.53948|0.53948	0.1828|0.1828	L|L	0.27053|0.27053	0.805|0.805	0.40734|0.40734	D|D	0.982773|0.982773	P|.	0.47677|.	0.899|.	P|.	0.53809|.	0.735|.	T|T	0.51865|0.51865	-0.8651|-0.8651	10|5	0.72032|.	D|.	0.01|.	-11.2724|-11.2724	15.5273|15.5273	0.75923|0.75923	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167|.	Q5VYS4|.	CM033_HUMAN|.	H|M	167|104	ENSP00000369849:Q167H|.	ENSP00000369849:Q167H|.	Q|R	+|+	3|2	2|0	C13orf33|C13orf33	30393263|30393263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.741000|5.741000	0.68638|0.68638	2.408000|2.408000	0.81797|0.81797	0.467000|0.467000	0.42956|0.42956	CAG|AGG		0.507	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849	Missense_Mutation	21	98	1	0	7.45023e-12	1	7.97024e-12	21	98					T	31495263	G	T	31495263	5	4	79	1	0	0	0	0	0	0	1	0	1732	1014	35	3	511	3	C13orf33	13	31495263	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3679	31495263	83674615	14085	24402											
HSPH1	10808	broad.mit.edu	37	chr13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatcttctactttgagAtgagtttgttccaacagtga	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000320027.5	-	8	1331	c.987T>A	c.(985-987)caT>caA	p.H329Q	HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	329					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(985-987)caT>caA		heat shock 105kDa/110kDa protein 1							137	134	135					13																	31724241		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724241A>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.987T>A	13.37:g.31724241A>T	ENSP00000318687:p.His329Gln					HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q	p.H329Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1331	-		Lung SC(185;0.0257)	329					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.987T>A	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104751	0.06967	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.68	0.836	0.18891	.	0.617569	0.17125	N	0.186070	T	0.10423	0.0255	N	0.02916	-0.46	0.23751	N	0.996945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.004;0.0;0.001	T	0.18777	-1.0326	10	0.38643	T	0.18	-0.9598	3.3253	0.07064	0.1111:0.5268:0.1024:0.2596	.	148;288;331;329;329	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Q	329;329;288;331;148;380	ENSP00000318687:H329Q;ENSP00000369768:H329Q;ENSP00000369769:H288Q;ENSP00000396090:H331Q;ENSP00000388778:H148Q	ENSP00000318687:H329Q	H	-	3	2	HSPH1	30622241	0.993000	0.37304	0.253000	0.24343	0.000000	0.00434	0.299000	0.19138	0.050000	0.15949	-1.263000	0.01449	CAT		0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			22	461	0	0	0	1	0	22	461					T	31724241	A	T	31724241	3	4	79	1	0	0	0	0	1	0	0	0	7461	330	12	5	1633	5	HSPH1	13	31724241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228978	31724241	83445637	14086	24403											
FRY	10129	broad.mit.edu	37	chr13	32722003	32722003	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaccatcatcacaacactTttccccaaagggtcccgcgg	6	15	2	0	rs199638995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	437						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACAACACTTTTCCCCAAAG	0.463																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(1309-1311)ctT>ctG		furry homolog (Drosophila)							141	136	138					13																	32722003		1845	4085	5930	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32722003T>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1311T>G	13.37:g.32722003T>G							p.L437L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	13	1807	+		Lung SC(185;0.0271)	437					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.1311T>G	CCDS41875.1																																																																																				0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		80	407	0	0	0	1	0	80	407					G	32722003	T	G	32722003	2	3	79	1	0	0	0	0	0	0	0	1	6090	1828	64	4		4	FRY	13	32722003	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	997762	32722003	82447875	14087	24404											
FRY	10129	broad.mit.edu	37	chr13	32745307	32745307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatcacacactccttgattCgtccctgaagttgctgctgc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745307C>T	ENST00000380250.3	+	18	2547	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCTTGATTCGTCCCTGAAG	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2050-2052)tCg>tTg		furry homolog (Drosophila)							104	99	101					13																	32745307		1982	4190	6172	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745307C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2051C>T	13.37:g.32745307C>T	ENSP00000369600:p.Ser684Leu						p.S684L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2547	+		Lung SC(185;0.0271)	684					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2051C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040804	0.75732	.	.	ENSG00000073910	ENST00000380250	T	0.65549	-0.16	6.07	5.18	0.71444	.	0.254141	0.38381	N	0.001719	T	0.61578	0.2358	L	0.59436	1.845	0.80722	D	1	B	0.32507	0.373	B	0.35859	0.212	T	0.58482	-0.7629	10	0.31617	T	0.26	.	16.8863	0.86077	0.0:0.8721:0.1279:0.0	.	684	Q5TBA9	FRY_HUMAN	L	684	ENSP00000369600:S684L	ENSP00000369600:S684L	S	+	2	0	FRY	31643307	0.871000	0.30034	0.523000	0.27875	0.957000	0.61999	4.474000	0.60203	2.890000	0.99128	0.650000	0.86243	TCG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		52	329	0	0	0	1	0	52	329					T	32745307	C	T	32745307	3	4	79	1	0	0	0	0	1	0	0	0	6090	893	31	1	2121	1	FRY	13	32745307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23304	32745307	82424571	14088	24405											
FRY	10129	broad.mit.edu	37	chr13	32745346	32745346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctcacccagtggaAactagtcatccagacacaag	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745346A>C	ENST00000380250.3	+	18	2586	c.2090A>C	c.(2089-2091)aAa>aCa	p.K697T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	697						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCCAGTGGAAACTAGTCATC	0.418																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2089-2091)aAa>aCa		furry homolog (Drosophila)							73	70	71					13																	32745346		1957	4181	6138	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745346A>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2090A>C	13.37:g.32745346A>C	ENSP00000369600:p.Lys697Thr						p.K697T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2586	+		Lung SC(185;0.0271)	697					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2090A>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475064	0.63737	.	.	ENSG00000073910	ENST00000380250	T	0.26373	1.74	6.16	6.16	0.99307	.	0.095708	0.64402	D	0.000001	T	0.31295	0.0792	M	0.63843	1.955	0.80722	D	1	B	0.21606	0.058	B	0.30495	0.116	T	0.10520	-1.0626	10	0.14656	T	0.56	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	697	Q5TBA9	FRY_HUMAN	T	697	ENSP00000369600:K697T	ENSP00000369600:K697T	K	+	2	0	FRY	31643346	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.940000	0.56599	2.367000	0.80283	0.528000	0.53228	AAA		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		9	271	0	0	0	1	0	9	271					C	32745346	A	C	32745346	3	2	79	1	0	0	0	0	1	0	0	0	6090	14	1	4	2160	4	FRY	13	32745346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	32745346	82424532	14089	24406											
FRY	10129	broad.mit.edu	37	chr13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagaattcagtcggaaCgaggtccccactgcagtgta	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	731						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTCGGAACGAGGTCCCCA	0.448																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2191-2193)Cga>Tga		furry homolog (Drosophila)							145	148	147					13																	32747543		1983	4165	6148	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747543C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2191C>T	13.37:g.32747543C>T	ENSP00000369600:p.Arg731*						p.R731*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2687	+		Lung SC(185;0.0271)	731					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.2191C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	45	11.495109	0.99568	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.75	3.84	0.44239	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.018	0.71600	0.2216:0.7784:0.0:0.0	.	.	.	.	X	731	.	ENSP00000369600:R731X	R	+	1	2	FRY	31645543	0.894000	0.30519	0.967000	0.41034	0.999000	0.98932	1.229000	0.32600	2.708000	0.92522	0.650000	0.86243	CGA		0.448	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		86	425	0	0	0	1	0	86	425					T	32747543	C	T	32747543	4	4	79	1	0	0	0	0	0	1	0	0	6090	528	19	1	2265	1	FRY	13	32747543	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2197	32747543	82422335	14090	24407											
FRY	10129	broad.mit.edu	37	chr13	32768363	32768363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttaactgggcaattgaCcgatgctacacaggttccta	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1225						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCAATTGACCGATGCTACA	0.428																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3673-3675)gaC>gaT		furry homolog (Drosophila)							133	126	128					13																	32768363		1895	4125	6020	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32768363C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3675C>T	13.37:g.32768363C>T							p.D1225D	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	29	4171	+		Lung SC(185;0.0271)	1225					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.3675C>T	CCDS41875.1																																																																																				0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		72	397	0	0	0	1	0	72	397					T	32768363	C	T	32768363	2	4	79	1	0	0	0	0	0	0	0	1	6090	506	18	2		2	FRY	13	32768363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20820	32768363	82401515	14091	24408											
FRY	10129	broad.mit.edu	37	chr13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcagcagcgacacagttCtcctaccctatgtaagtgtc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1471						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACACAGTTCTCCTACCCTA	0.488																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(4411-4413)Ctc>Atc		furry homolog (Drosophila)							128	132	130					13																	32783857		1976	4145	6121	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783857C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4411C>A	13.37:g.32783857C>A	ENSP00000369600:p.Leu1471Ile						p.L1471I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	33	4907	+		Lung SC(185;0.0271)	1471					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4411C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196285	0.78902	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29917	1.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64262	-0.6449	10	0.66056	D	0.02	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	1471	Q5TBA9	FRY_HUMAN	I	1471;308	ENSP00000369600:L1471I	ENSP00000369600:L1471I	L	+	1	0	FRY	31681857	1.000000	0.71417	0.882000	0.34594	0.924000	0.55760	4.636000	0.61339	2.592000	0.87571	0.561000	0.74099	CTC		0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		58	254	1	0	4.6707e-30	1	5.47058e-30	58	254					A	32783857	C	A	32783857	3	1	79	1	0	0	0	0	1	0	0	0	6090	913	32	3	4541	3	FRY	13	32783857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	32783857	82386021	14092	24409											
FRY	10129	broad.mit.edu	37	chr13	32852676	32852676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcaaccaggggactcCgaagaaaaggtaataaaagc	10	9	1	1	rs554801796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2820						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGGGACTCCGAAGAAAAGG	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.0					ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8458-8460)tcC>tcT		furry homolog (Drosophila)							129	128	128					13																	32852676		1839	4095	5934	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32852676C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8460C>T	13.37:g.32852676C>T						FRY_ENST00000542859.1_Silent_p.S190S	p.S2820S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	58	8956	+		Lung SC(185;0.0271)	2820					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8460C>T	CCDS41875.1																																																																																				0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		55	448	0	0	0	1	0	55	448					T	32852676	C	T	32852676	2	4	79	1	0	0	0	0	0	0	0	1	6090	639	23	1		1	FRY	13	32852676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68819	32852676	82317202	14093	24410											
BRCA2	675	broad.mit.edu	37	chr13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcatttaaagtaaataGctgcaaagaccacattggaa	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000380152.3	+	10	1066	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	278					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAAATAGCTGCAAAGAC	0.289			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(832-834)aGc>aAc	Homologous recombination	breast cancer 2, early onset							51	53	52					13																	32906448		2203	4294	6497	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906448G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.833G>A	13.37:g.32906448G>A	ENSP00000369497:p.Ser278Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S278N	p.S278N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1060	+		Lung SC(185;0.0262)	278					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.833G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464933	0.26335	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00808	5.67;5.67	5.74	2.66	0.31614	.	0.448251	0.24745	N	0.035951	T	0.00845	0.0028	L	0.29908	0.895	0.09310	N	1	B;B	0.25719	0.132;0.007	B;B	0.20184	0.028;0.008	T	0.49021	-0.8982	10	0.44086	T	0.13	.	5.4333	0.16466	0.273:0.153:0.574:0.0	.	278;278	P51587;A1YBP1	BRCA2_HUMAN;.	N	278;278;276	ENSP00000369497:S278N;ENSP00000439902:S278N	ENSP00000369497:S278N	S	+	2	0	BRCA2	31804448	0.000000	0.05858	0.011000	0.14972	0.815000	0.46073	0.286000	0.18902	0.784000	0.33661	0.655000	0.94253	AGC		0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		42	181	0	0	0	1	0	42	181					A	32906448	G	A	32906448	3	1	79	1	0	0	0	0	1	0	0	0	1503	971	34	2	867	2	BRCA2	13	32906448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53772	32906448	82263430	14094	24411											
BRCA2	675	broad.mit.edu	37	chr13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcttcaaataaggaaAtcaagctctctgaacataac	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000380152.3	+	11	3282	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1017					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATAAGGAAATCAAGCTCTC	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(3049-3051)Atc>Ttc	Homologous recombination	breast cancer 2, early onset							43	47	46					13																	32911541		2203	4295	6498	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911541A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3049A>T	13.37:g.32911541A>T	ENSP00000369497:p.Ile1017Phe	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.I1017F	p.I1017F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3276	+		Lung SC(185;0.0262)	1017					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3049A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132024	0.77662	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77877	-1.13;-1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.83571	0.5283	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	10	0.87932	D	0	.	16.3468	0.83138	1.0:0.0:0.0:0.0	.	1017	P51587	BRCA2_HUMAN	F	1017	ENSP00000369497:I1017F;ENSP00000439902:I1017F	ENSP00000369497:I1017F	I	+	1	0	BRCA2	31809541	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.875000	0.75551	2.263000	0.75096	0.529000	0.55759	ATC		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		53	215	0	0	0	1	0	53	215					T	32911541	A	T	32911541	3	4	79	1	0	0	0	0	1	0	0	0	1503	101	4	5	3087	5	BRCA2	13	32911541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5093	32911541	82258337	14095	24412											
BRCA2	675	broad.mit.edu	37	chr13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattcaagtaaaaatgataCtgtttgtattcataaagatg	7	3	2	3	rs276174841|rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000380152.3	+	11	4270	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1346	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATGATACTGTTTGTATT	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD993687	BRCA2	D	rs80359421	c.(4036-4038)aCt>aAt	Homologous recombination	breast cancer 2, early onset							46	47	47					13																	32912529		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912529C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4037C>A	13.37:g.32912529C>A	ENSP00000369497:p.Thr1346Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.T1346N	p.T1346N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4264	+		Lung SC(185;0.0262)	1346					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4037C>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352859	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	4.89	0.778	0.18543	.	0.716618	0.13593	N	0.376425	T	0.01765	0.0056	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.53912	0.737	T	0.47459	-0.9116	10	0.48119	T	0.1	.	2.8585	0.05579	0.3635:0.2964:0.256:0.0841	.	1346	P51587	BRCA2_HUMAN	N	1346	ENSP00000369497:T1346N;ENSP00000439902:T1346N	ENSP00000369497:T1346N	T	+	2	0	BRCA2	31810529	0.000000	0.05858	0.003000	0.11579	0.137000	0.21094	-0.224000	0.09164	0.307000	0.22880	-0.262000	0.10625	ACT		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	167	1	0	1.47857e-17	1	1.63348e-17	46	167					A	32912529	C	A	32912529	3	1	79	1	0	0	0	0	1	0	0	0	1503	565	20	3	4075	3	BRCA2	13	32912529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	32912529	82257349	14096	24413											
BRCA2	675	broad.mit.edu	37	chr13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttaaagtacatgaaaAtgtagaaaaagaaacagcaa	8	3	0	3	rs397507750|rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000380152.3	+	11	5158	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1642	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTACATGAAAATGTAGAAAAA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4924-4926)aAt>aCt	Homologous recombination	breast cancer 2, early onset							34	36	35					13																	32913417		2202	4298	6500	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913417A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4925A>C	13.37:g.32913417A>C	ENSP00000369497:p.Asn1642Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1642T	p.N1642T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5152	+		Lung SC(185;0.0262)	1642					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4925A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975053	0.34848	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00873	5.59;5.59	5.96	0.18	0.15068	.	0.582880	0.18290	N	0.145734	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	1	B	0.29909	0.261	B	0.20184	0.028	T	0.44143	-0.9347	10	0.52906	T	0.07	.	7.2658	0.26229	0.3915:0.3705:0.0:0.2381	.	1642	P51587	BRCA2_HUMAN	T	1642	ENSP00000369497:N1642T;ENSP00000439902:N1642T	ENSP00000369497:N1642T	N	+	2	0	BRCA2	31811417	0.219000	0.23619	0.013000	0.15412	0.989000	0.77384	1.041000	0.30291	0.105000	0.17753	0.533000	0.62120	AAT		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		30	179	0	0	0	1	0	30	179					C	32913417	A	C	32913417	3	2	79	1	0	0	0	0	1	0	0	0	1503	101	4	4	4963	4	BRCA2	13	32913417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	32913417	82256461	14097	24414											
BRCA2	675	broad.mit.edu	37	chr13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A													attgaagaatgttgaagatcINSaaaaaaacactagtttttcc					rs80358757|rs80359508|rs80359509|rs80359507|rs80359506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913836_32913837insA	ENST00000380152.3	+	11	5577_5578	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.Q1782fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		1	Deletion - Frameshift(1)	p.N1784fs*7(1)	large_intestine(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM067354	BRCA2	M	rs80358757	c.(5344-5346)aaafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913836_32913837insA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5351dupA	13.37:g.32913843_32913843dupA	ENSP00000369497:p.Gln1782fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K1782fs	p.K1782fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5571_5572	+		Lung SC(185;0.0262)	1782					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	ENST00000380152.3	37	c.5344_5345insA	CCDS9344.1																																																																																				0.322	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		50	207						50	207	---	---	---	---	A	32913837	-	A	32913836	7	5	79	1	0	1	1	0	0	0	0	0	1503	827	29	0	5382	0	BRCA2	13	32913836	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	419	32913836	82256042	14098	24415											
BRCA2	675	broad.mit.edu	37	chr13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacacaaagttaagggaGtgttagaggaatttgattta	10	4	0	2	rs397507835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000380152.3	+	11	6468	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2079					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTTAAGGGAGTGTTAGAGGA	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6235-6237)Gtg>Atg	Homologous recombination	breast cancer 2, early onset							64	66	65					13																	32914727		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914727G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6235G>A	13.37:g.32914727G>A	ENSP00000369497:p.Val2079Met	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.V2079M	p.V2079M	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6462	+		Lung SC(185;0.0262)	2079					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6235G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165768	0.01673	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75260	-0.92;-0.92	5.77	3.39	0.38822	.	0.200919	0.45606	N	0.000349	T	0.40247	0.1109	N	0.02539	-0.55	0.28309	N	0.922762	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.02654	T	1	.	6.3144	0.21182	0.7241:0.1349:0.141:0.0	.	2079	P51587	BRCA2_HUMAN	M	2079	ENSP00000369497:V2079M;ENSP00000439902:V2079M	ENSP00000369497:V2079M	V	+	1	0	BRCA2	31812727	0.973000	0.33851	1.000000	0.80357	0.778000	0.44026	0.733000	0.26087	1.024000	0.39682	-0.312000	0.09012	GTG		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		58	345	0	0	0	1	0	58	345					A	32914727	G	A	32914727	3	1	79	1	0	0	0	0	1	0	0	0	1503	1029	36	2	6273	2	BRCA2	13	32914727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	891	32914727	82255151	14099	24416											
BRCA2	675	broad.mit.edu	37	chr13	32953972	32953972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatttatcatcttgcaacTtcaaaatctaaaagtaaatc	3	7	4	1	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000380152.3	+	23	9272	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000544455.1_Silent_p.T3013T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3013			T -> I (in BC; unknown pathological significance; dbSNP:rs28897755). {ECO:0000269|PubMed:15026808, ECO:0000269|PubMed:15635067}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTTGCAACTTCAAAATCTA	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9037-9039)acT>acC	Homologous recombination	breast cancer 2, early onset							57	57	57					13																	32953972		2203	4294	6497	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32953972T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9039T>C	13.37:g.32953972T>C		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.T3013T	p.T3013T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	23	9266	+		Lung SC(185;0.0262)	3013		T -> I (in BC; unknown pathological significance).			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.9039T>C	CCDS9344.1																																																																																				0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		40	203	0	0	0	1	0	40	203					C	32953972	T	C	32953972	2	2	79	1	0	0	0	0	0	0	0	1	1503	1596	56	4		4	BRCA2	13	32953972	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39245	32953972	82215906	14100	24417											
N4BP2L1	90634	broad.mit.edu	37	chr13	32978376	32978376	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccatgtccatttccagCctgaaaagattcttttgttc	5	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32978376C>T	ENST00000380133.2	-	4	524				N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000380139.4_Silent_p.R143R			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CCATTTCCAGCCTGAAAAGAT	0.348																																						ENST00000380139.4																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(427-429)agG>agA		NEDD4 binding protein 2-like 1							84	84	84					13																	32978376		2203	4300	6503	SO:0001627	intron_variant	90634				cell killing		ATP binding	g.chr13:32978376C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.473+81G>A	13.37:g.32978376C>T						N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000530622.2_Intron	p.R143R	NM_001079691.1	NP_001073159.1	Q5TBK1	N42L1_HUMAN		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	4	479	-		Lung SC(185;0.0262)	143					A4QN21|Q5TBK0	Silent	SNP	ENST00000380133.2	37	c.429G>A	CCDS9345.2																																																																																				0.348	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		24	191	0	0	0	1	0	24	191					T	32978376	C	T	32978376	1	4	79	0	1	0	0	0	0	0	0	0	10152	738	26	2		2	N4BP2L1	13	32978376	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24404	32978376	82191502	14101	24418											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016813	33016813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctactcttgtctgagattCgaaagtcaaaaacagtttct	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33016813C>T	ENST00000504114.1	-	6	1907	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E606K|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCTGAGATTCGAAAGTCAAA	0.323																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1816-1818)Gaa>Aaa		NEDD4 binding protein 2-like 2							41	41	41					13																	33016813		1804	4066	5870	SO:0001583	missense	10443							g.chr13:33016813C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1816G>A	13.37:g.33016813C>T	ENSP00000427477:p.Glu606Lys					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.E606K|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K	p.E606K	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1920	-		Lung SC(185;0.0262)	0					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1816G>A		.	.	.	.	.	.	.	.	.	.	C	0.535	-0.855970	0.02630	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.13	-0.447	0.12234	.	1.638090	0.03096	N	0.160384	T	0.12390	0.0301	N	0.01705	-0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.27054	-1.0085	9	0.02654	T	1	0.0064	4.7777	0.13187	0.0:0.171:0.3034:0.5257	.	606;621;504;504	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	K	504;533;606;606;621	.	ENSP00000350104:E606K	E	-	1	0	N4BP2L2;RP11-298P3.4	31914813	0.002000	0.14202	0.013000	0.15412	0.029000	0.11900	0.222000	0.17699	-0.297000	0.08934	-0.378000	0.06908	GAA		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		9	164	0	0	0	1	0	9	164					T	33016813	C	T	33016813	3	4	79	1	0	0	0	0	1	0	0	0	10153	893	31	1	409	1	N4BP2L2	13	33016813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38437	33016813	82153065	14102	24419											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttatgaggtcctgcaggCcagctaccaaaatagggctg	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000504114.1	-	6	1210	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCCTGCAGGCCAGCTACCAA	0.423																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1117-1119)tgG>tgA		NEDD4 binding protein 2-like 2							77	74	75					13																	33017510		1855	4100	5955	SO:0001587	stop_gained	10443							g.chr13:33017510C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1119G>A	13.37:g.33017510C>T	ENSP00000427477:p.Trp373*					N4BP2L2_ENST00000504114.1_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*	p.W373*	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1223	-		Lung SC(185;0.0262)	0					A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	37	c.1119G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.562807	0.97667	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.61	4.77	0.60923	.	0.509941	0.20334	N	0.094363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3345	12.0509	0.53505	0.0:0.9203:0.0:0.0797	.	.	.	.	X	271;300;373;373;388	.	.	W	-	3	0	N4BP2L2;RP11-298P3.4	31915510	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	1.719000	0.38011	1.368000	0.46115	0.650000	0.86243	TGG		0.423	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		44	314	0	0	0	1	0	44	314					T	33017510	C	T	33017510	4	4	79	1	0	0	0	0	0	1	0	0	10153	740	26	2	1106	2	N4BP2L2	13	33017510	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	33017510	82152368	14103	24420											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017909	33017909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacaagttatcaccttcCttagagaggtaattctttgg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017909C>A	ENST00000504114.1	-	6	811	c.720G>T	c.(718-720)aaG>aaT	p.K240N	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K240N|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TATCACCTTCCTTAGAGAGGT	0.338																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(718-720)aaG>aaT		NEDD4 binding protein 2-like 2							91	86	88					13																	33017909		1858	4098	5956	SO:0001583	missense	10443							g.chr13:33017909C>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.720G>T	13.37:g.33017909C>A	ENSP00000427477:p.Lys240Asn					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.K240N|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N	p.K240N	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	824	-		Lung SC(185;0.0262)	0					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.720G>T		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888745	0.52014	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.47869	0.83	5.34	-5.43	0.02632	.	3.025590	0.00718	N	0.000868	T	0.57359	0.2048	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.63880	0.985;0.985;0.993;0.985	P;P;P;P	0.59889	0.62;0.62;0.865;0.775	T	0.59963	-0.7355	10	0.34782	T	0.22	-6.4438	9.3972	0.38410	0.1187:0.1481:0.0:0.7332	.	240;255;138;138	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	N	138;167;240;240;255;684	ENSP00000423362:K684N	ENSP00000350104:K240N	K	-	3	2	N4BP2L2;RP11-298P3.4	31915909	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.012000	0.12699	-1.080000	0.03109	-0.140000	0.14226	AAG		0.338	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		5	88	1	0	5.9392e-07	1	6.14895e-07	5	88					A	33017909	C	A	33017909	3	1	79	1	0	0	0	0	1	0	0	0	10153	680	24	3	1505	3	N4BP2L2	13	33017909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	33017909	82151969	14104	24421											
PDS5B	23047	broad.mit.edu	37	chr13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaatcaatagatggaacaGcagatgatgaagatgagggt	12	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	633					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGAACAGCAGATGATGA	0.323																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1897-1899)Gca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							104	102	102					13																	33281111		1882	4109	5991	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33281111G>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1897G>T	13.37:g.33281111G>T	ENSP00000313851:p.Ala633Ser						p.A633S	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	18	2083	+		Lung SC(185;0.0367)	633					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1897G>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028669	0.54790	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.70749	-0.51	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	N	0.20530	0.585	0.80722	D	1	B	0.19331	0.035	B	0.20184	0.028	T	0.54153	-0.8336	10	0.10902	T	0.67	-0.2668	20.3011	0.98612	0.0:0.0:1.0:0.0	.	633	Q9NTI5	PDS5B_HUMAN	S	633	ENSP00000313851:A633S	ENSP00000313851:A633S	A	+	1	0	PDS5B	32179111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.804000	0.96469	0.650000	0.86243	GCA		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		21	199	1	0	1.55469e-16	1	1.70887e-16	21	199					T	33281111	G	T	33281111	3	4	79	1	0	0	0	0	1	0	0	0	11734	971	34	3	1963	3	PDS5B	13	33281111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263202	33281111	81888767	14105	24422											
KL	9365	broad.mit.edu	37	chr13	33591381	33591381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcgggtacctggtggCgcacaacctcctcctggtga	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	ENST00000380099.3	+	1	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	268	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTGGTGGCGCACAACCTC	0.716																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(802-804)gCg>gTg		klotho							6	6	6					13																	33591381		2021	4022	6043	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591381C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.803C>T	13.37:g.33591381C>T	ENSP00000369442:p.Ala268Val					KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	p.A268V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	811	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	268			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.803C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976631	0.74360	.	.	ENSG00000133116	ENST00000380099	T	0.32023	1.47	4.55	4.55	0.56014	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.059433	0.64402	D	0.000004	T	0.49898	0.1584	L	0.59912	1.85	0.46564	D	0.999102	D	0.89917	1.0	D	0.72982	0.979	T	0.51419	-0.8708	10	0.72032	D	0.01	-19.0702	13.2771	0.60194	0.0:0.8408:0.1592:0.0	.	268	Q9UEF7	KLOT_HUMAN	V	268	ENSP00000369442:A268V	ENSP00000369442:A268V	A	+	2	0	KL	32489381	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.725000	0.38074	2.357000	0.79964	0.563000	0.77884	GCG		0.716	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			11	55	0	0	0	1	0	11	55					T	33591381	C	T	33591381	3	4	79	1	0	0	0	0	1	0	0	0	8361	768	27	1	805	1	KL	13	33591381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310270	33591381	81578497	14106	24423											
KL	9365	broad.mit.edu	37	chr13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtcaagctttggataaCgatgaatgagccgtatacaa	9	8	2	2	rs141695559	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	686	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2056-2058)aCg>aTg		klotho		C	MET/THR	0,4406		0,0,2203	66	59	61		2057	5.8	1	13	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	KL	NM_004795.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	686/1013	33635273	2,13004	2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635273C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2057C>T	13.37:g.33635273C>T	ENSP00000369442:p.Thr686Met					KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	p.T686M	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2065	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	686			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2057C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862148	0.71949	0.0	2.33E-4	ENSG00000133116	ENST00000380099	T	0.58060	0.36	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90088	0.4175	10	0.87932	D	0	-26.5349	20.0763	0.97746	0.0:1.0:0.0:0.0	.	686	Q9UEF7	KLOT_HUMAN	M	686	ENSP00000369442:T686M	ENSP00000369442:T686M	T	+	2	0	KL	32533273	1.000000	0.71417	0.964000	0.40570	0.410000	0.31052	7.686000	0.84128	2.756000	0.94617	0.655000	0.94253	ACG		0.527	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			49	243	0	0	0	1	0	49	243					T	33635273	C	T	33635273	3	4	79	1	0	0	0	0	1	0	0	0	8361	536	19	1	2071	1	KL	13	33635273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43892	33635273	81534605	14107	24424											
NBEA	26960	broad.mit.edu	37	chr13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtattgctgaaaatgagtgCtgtagatgacatgatagcag	12	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000400445.3	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	169					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAATGAGTGCTGTAGATGAC	0.348																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(505-507)gCt>gAt		neurobeachin							58	54	55					13																	35615281		1885	4121	6006	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615281C>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.506C>A	13.37:g.35615281C>A	ENSP00000383295:p.Ala169Asp					NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000400445.3_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	p.A169D			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	2	1040	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	169					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.506C>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994515	0.54041	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.33	5.33	0.75918	.	0.134557	0.51477	D	0.000096	T	0.35307	0.0927	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	T	0.08391	-1.0724	10	0.30078	T	0.28	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	169	Q5T321	.	D	169	ENSP00000440951:A169D;ENSP00000383295:A169D;ENSP00000369271:A169D;ENSP00000308534:A169D	ENSP00000308534:A169D	A	+	2	0	NBEA	34513281	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.496000	0.84212	0.585000	0.79938	GCT		0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	145	1	0	3.07112e-06	1	3.16074e-06	11	145					A	35615281	C	A	35615281	3	1	79	1	0	0	0	0	1	0	0	0	10228	797	28	3	512	3	NBEA	13	35615281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1980008	35615281	79554597	14108	24425											
NBEA	26960	broad.mit.edu	37	chr13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgtccacatttacaatcGatggaggaacagtgaaattc	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000400445.3	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	336					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTACAATCGATGGAGGAAC	0.308																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1006-1008)cGa>cAa		neurobeachin							213	187	195					13																	35630181		1857	4095	5952	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630181G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1007G>A	13.37:g.35630181G>A	ENSP00000383295:p.Arg336Gln					NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	p.R336Q			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1541	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	336					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1007G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323043	0.95708	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.78117	0.4233	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79605	-0.1734	10	0.52906	T	0.07	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	336	Q5T321	.	Q	336	ENSP00000440951:R336Q;ENSP00000383295:R336Q;ENSP00000369271:R336Q;ENSP00000308534:R336Q	ENSP00000308534:R336Q	R	+	2	0	NBEA	34528181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.266000	0.75297	0.563000	0.77884	CGA		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		64	249	0	0	0	1	0	64	249					A	35630181	G	A	35630181	3	1	79	1	0	0	0	0	1	0	0	0	10228	1058	37	1	1033	1	NBEA	13	35630181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14900	35630181	79539697	14109	24426											
MAB21L1	4081	broad.mit.edu	37	chr13	36049526	36049526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttttgaggatggagagGcacttctttctgcagccccc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	250					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGATGGAGAGGCACTTCTTTC	0.567																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(748-750)tgC>tgT		mab-21-like 1 (C. elegans)							77	82	80					13																	36049526		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049526G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.750C>T	13.37:g.36049526G>A						NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.C250C	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1306	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	250					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.750C>T	CCDS9353.1																																																																																				0.567	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		70	454	0	0	0	1	0	70	454					A	36049526	G	A	36049526	2	1	79	1	0	0	0	0	0	0	0	1	9180	1195	42	2		2	MAB21L1	13	36049526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419345	36049526	79120352	14110	24427											
MAB21L1	4081	broad.mit.edu	37	chr13	36049967	36049967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcctcttgcgcccgtcGctcaacttcagcaccgcgca	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049967G>A	ENST00000379919.4	-	1	865	c.309C>T	c.(307-309)agC>agT	p.S103S	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	103					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCCCGTCGCTCAACTTCA	0.592																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(307-309)agC>agT		mab-21-like 1 (C. elegans)							62	63	62					13																	36049967		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049967G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.309C>T	13.37:g.36049967G>A						NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.S103S	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	865	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	103					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.309C>T	CCDS9353.1																																																																																				0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		66	331	0	0	0	1	0	66	331					A	36049967	G	A	36049967	2	1	79	1	0	0	0	0	0	0	0	1	9180	1078	38	1		1	MAB21L1	13	36049967	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	36049967	79119911	14111	24428											
MAB21L1	4081	broad.mit.edu	37	chr13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaagcaccacttcaaattCggtgggggagatgacctcga	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	73					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCAAATTCGGTGGGGGAG	0.577																																						ENST00000379919.4																			1	Substitution - Missense(1)	p.E73K(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(217-219)Gaa>Aaa		mab-21-like 1 (C. elegans)							94	94	94					13																	36050059		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050059C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.217G>A	13.37:g.36050059C>T	ENSP00000369251:p.Glu73Lys					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.E73K	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	773	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	73					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.217G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729709	0.89390	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.82323	2.585	0.80722	D	1	P	0.48230	0.907	P	0.47827	0.558	T	0.02901	-1.1096	10	0.54805	T	0.06	-0.5448	19.7375	0.96212	0.0:1.0:0.0:0.0	.	73	Q13394	MB211_HUMAN	K	73	ENSP00000369251:E73K	ENSP00000369251:E73K	E	-	1	0	MAB21L1	34948059	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA		0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		114	435	0	0	0	1	0	114	435					T	36050059	C	T	36050059	3	4	79	1	0	0	0	0	1	0	0	0	9180	893	31	1	866	1	MAB21L1	13	36050059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	36050059	79119819	14112	24429											
MAB21L1	4081	broad.mit.edu	37	chr13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcccggatagttttgGcaatggcagctttcctggct	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(82-84)gCc>gTc		mab-21-like 1 (C. elegans)							101	104	103					13																	36050193		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050193G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.83C>T	13.37:g.36050193G>A	ENSP00000369251:p.Ala28Val					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.A28V	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	639	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	28					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.83C>T	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825485	0.50739	.	.	ENSG00000180660	ENST00000379919	T	0.18810	2.19	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25044	0.0608	M	0.61703	1.905	0.48632	D	0.999686	B	0.06786	0.001	B	0.09377	0.004	T	0.01570	-1.1322	10	0.36615	T	0.2	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	V	28	ENSP00000369251:A28V	ENSP00000369251:A28V	A	-	2	0	MAB21L1	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC		0.507	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		153	579	0	0	0	1	0	153	579					A	36050193	G	A	36050193	3	1	79	1	0	0	0	0	1	0	0	0	9180	1203	42	2	1000	2	MAB21L1	13	36050193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	36050193	79119685	14113	24430											
NBEA	26960	broad.mit.edu	37	chr13	36220438	36220438	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttggacagacgccatctCagttgcttattgagccacat	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000400445.3	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2554	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACGCCATCTCAGTTGCTTAT	0.468																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7660-7662)Cag>Tag		neurobeachin							102	99	100					13																	36220438		2053	4190	6243	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36220438C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7660C>T	13.37:g.36220438C>T	ENSP00000383295:p.Gln2554*					NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*	p.Q2554*			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	50	8194	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2554			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.7660C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	40	8.518044	0.98845	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9332	0.92574	0.0:1.0:0.0:0.0	.	.	.	.	X	2554;2554;2551;2554;1181;132;347;132	.	ENSP00000308534:Q2554X	Q	+	1	0	NBEA	35118438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.549000	0.85964	0.563000	0.77884	CAG		0.468	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		10	125	0	0	0	1	0	10	125					T	36220438	C	T	36220438	4	4	79	1	0	0	0	0	0	1	0	0	10228	827	29	2	7858	2	NBEA	13	36220438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170245	36220438	78949440	14114	24431											
DCLK1	9201	broad.mit.edu	37	chr13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcattttctgggaggcCatcatcctggagaaaaagaa	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000360631.3	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000255448.4_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	651					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGGAGGCCATCATCCTGG	0.398																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1951-1953)Ggc>Agc		doublecortin-like kinase 1							178	172	174					13																	36367610		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36367610C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1951G>A	13.37:g.36367610C>T	ENSP00000353846:p.Gly651Ser					DCLK1_ENST00000360631.3_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S	p.G651S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	16	2162	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	651					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1951G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.194910|3.194910	0.58017|0.58017	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893|ENST00000539451	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.111469|.	0.64402|.	D|.	0.000010|.	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26975|.	0.165;0.005;0.016;0.165|.	B;B;B;B|.	0.30401|.	0.115;0.009;0.02;0.115|.	T|T	0.62011|0.62011	-0.6944|-0.6944	10|6	0.42905|0.72032	T|D	0.14|0.01	.|.	19.3844|19.3844	0.94551|0.94551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;651;651;344|.	O15075-4;O15075;O15075-2;O15075-3|.	.;DCLK1_HUMAN;.;.|.	S|I	343;651;651;344|609	ENSP00000255448:G651S;ENSP00000353846:G651S;ENSP00000369223:G344S|.	ENSP00000255448:G651S|ENSP00000441665:M609I	G|M	-|-	1|3	0|0	DCLK1|DCLK1	35265610|35265610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.711000|3.711000	0.54868|0.54868	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GGC|ATG		0.398	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		62	263	0	0	0	1	0	62	263					T	36367610	C	T	36367610	3	4	79	1	0	0	0	0	1	0	0	0	4302	594	21	2	250	2	DCLK1	13	36367610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147172	36367610	78802268	14115	24432											
DCLK1	9201	broad.mit.edu	37	chr13	36686021	36686021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgtttcccatccaaCgtgtacaggcgtttcaccac	6	15	1	0	rs202117078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000360631.3	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000255448.4_Silent_p.T236T|DCLK1_ENST00000379892.4_Silent_p.T236T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCATCCAACGTGTACAGGC	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.0					ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(706-708)acG>acA		doublecortin-like kinase 1		C		2,4404	4.2+/-10.8	0,2,2201	102	89	93		708	-9.3	0	13		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCLK1	NM_004734.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		236/730	36686021	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686021C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.708G>A	13.37:g.36686021C>T						DCLK1_ENST00000360631.3_Silent_p.T236T|DCLK1_ENST00000379892.4_Silent_p.T236T	p.T236T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	919	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	236			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.708G>A																																																																																					0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		31	380	0	0	0	1	0	31	380					T	36686021	C	T	36686021	2	4	79	1	0	0	0	0	0	0	0	1	4302	523	19	1		1	DCLK1	13	36686021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318411	36686021	78483857	14116	24433											
DCLK1	9201	broad.mit.edu	37	chr13	36686204	36686204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatccttattctctcgcacCtctgaagggcttcctttggc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000360631.3	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000255448.4_Silent_p.E175E|DCLK1_ENST00000379892.4_Silent_p.E175E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	175					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTCTCGCACCTCTGAAGGGC	0.527																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(523-525)gaG>gaA		doublecortin-like kinase 1							122	118	120					13																	36686204		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686204C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.525G>A	13.37:g.36686204C>T						DCLK1_ENST00000360631.3_Silent_p.E175E|DCLK1_ENST00000379892.4_Silent_p.E175E	p.E175E	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	736	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	175					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.525G>A																																																																																					0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		86	541	0	0	0	1	0	86	541					T	36686204	C	T	36686204	2	4	79	1	0	0	0	0	0	0	0	1	4302	680	24	2		2	DCLK1	13	36686204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	36686204	78483674	14117	24434											
DCLK1	9201	broad.mit.edu	37	chr13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtttcgatagaaacgaActttcttggccttcttctcg	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000360631.3	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000255448.4_Missense_Mutation_p.V59A|DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	59	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATAGAAACGAACTTTCTTGGC	0.582																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(175-177)gTt>gCt		doublecortin-like kinase 1							94	85	88					13																	36700099		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700099A>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.176T>C	13.37:g.36700099A>G	ENSP00000353846:p.Val59Ala					DCLK1_ENST00000360631.3_Missense_Mutation_p.V59A|DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A	p.V59A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	387	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	59			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.176T>C		.	.	.	.	.	.	.	.	.	.	A	15.84	2.953052	0.53293	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.90324	-2.65;-2.65;-2.65	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.79258	2.445	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	D	0.87969	0.2735	10	0.30078	T	0.28	.	15.9073	0.79439	1.0:0.0:0.0:0.0	.	59	O15075-2	.	A	59	ENSP00000255448:V59A;ENSP00000353846:V59A;ENSP00000369222:V59A	ENSP00000255448:V59A	V	-	2	0	DCLK1	35598099	1.000000	0.71417	0.976000	0.42696	0.816000	0.46133	9.127000	0.94417	2.158000	0.67659	0.528000	0.53228	GTT		0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		99	386	0	0	0	1	0	99	386					G	36700099	A	G	36700099	3	3	79	1	0	0	0	0	1	0	0	0	4302	43	2	4	2081	4	DCLK1	13	36700099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13895	36700099	78469779	14118	24435											
SPG20	23111	broad.mit.edu	37	chr13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaccattgctttgaTaccaatgttgttaatattgt	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000438666.2_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	609					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTGCTTTGATACCAATGTTG	0.418																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1825-1827)Atc>Gtc		spastic paraplegia 20 (Troyer syndrome)							235	203	214					13																	36878678		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36878678T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1825A>G	13.37:g.36878678T>C	ENSP00000414147:p.Ile609Val					SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V	p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	9	2042	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	609					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1825A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776230	0.49786	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.16	3.97	0.46021	Senescence/spartin-associated (1);	0.109916	0.64402	N	0.000010	D	0.85570	0.5727	L	0.42581	1.335	0.38750	D	0.954083	P;P	0.49447	0.924;0.924	P;P	0.50617	0.646;0.646	T	0.82619	-0.0368	10	0.02654	T	1	-6.3075	10.8538	0.46786	0.0:0.0747:0.0:0.9253	.	609;609	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	609	ENSP00000406061:I609V;ENSP00000347314:I609V;ENSP00000414147:I609V	ENSP00000347314:I609V	I	-	1	0	SPG20	35776678	0.995000	0.38212	0.872000	0.34217	0.485000	0.33311	1.896000	0.39789	0.813000	0.34350	0.482000	0.46254	ATC		0.418	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			65	435	0	0	0	1	0	65	435					C	36878678	T	C	36878678	3	2	79	1	0	0	0	0	1	0	0	0	15094	1406	49	4	179	4	SPG20	13	36878678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178579	36878678	78291200	14119	24436											
SPG20	23111	broad.mit.edu	37	chr13	36878745	36878745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccaccgcatggtgggtAgcttctcctgcattatatcc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000494062.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000438666.2_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	586					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATGGTGGGTAGCTTCTCCTG	0.343																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1756-1758)gcT>gcC		spastic paraplegia 20 (Troyer syndrome)							110	95	100					13																	36878745		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36878745A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1758T>C	13.37:g.36878745A>G						SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A	p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	9	1975	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	586					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1758T>C	CCDS9356.1																																																																																				0.343	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			50	205	0	0	0	1	0	50	205					G	36878745	A	G	36878745	2	3	79	1	0	0	0	0	0	0	0	1	15094	407	15	4		4	SPG20	13	36878745	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67	36878745	78291133	14120	24437											
SPG20	23111	broad.mit.edu	37	chr13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactggctcacatggtacaAtgtgactcaggttaacttct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	402					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATGGTACAATGTGACTCAG	0.358																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1204-1206)aTt>aCt		spastic paraplegia 20 (Troyer syndrome)							96	84	88					13																	36900795		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36900795A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1205T>C	13.37:g.36900795A>G	ENSP00000414147:p.Ile402Thr					SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T	p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	5	1422	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	402					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1205T>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987410	0.18889	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.68	2.02	0.26589	.	0.388105	0.26092	N	0.026399	T	0.73140	0.3549	N	0.24115	0.695	0.25394	N	0.988507	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.54146	-0.8337	10	0.12766	T	0.61	-3.3442	6.8046	0.23770	0.5431:0.0:0.4569:0.0	.	402;402;402	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	402	ENSP00000406061:I402T;ENSP00000347314:I402T;ENSP00000414147:I402T	ENSP00000347314:I402T	I	-	2	0	SPG20	35798795	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	2.090000	0.41682	0.435000	0.26365	0.460000	0.39030	ATT		0.358	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			25	155	0	0	0	1	0	25	155					G	36900795	A	G	36900795	3	3	79	1	0	0	0	0	1	0	0	0	15094	101	4	4	815	4	SPG20	13	36900795	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22050	36900795	78269083	14121	24438											
SPG20	23111	broad.mit.edu	37	chr13	36905734	36905734	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatataaccagtcacaaacCtgaaaggattcattagaaga	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTCACAAACCTGAAAGGATT	0.313																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.e3-1		spastic paraplegia 20 (Troyer syndrome)							45	45	45					13																	36905734		2203	4300	6503	SO:0001630	splice_region_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36905734C>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.811-1G>T	13.37:g.36905734C>A						SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000355182.4_Splice_Site		NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1028	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						O60349|Q86Y67|Q9H1T2|Q9H1T3	Splice_Site	SNP	ENST00000451493.1	37		CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073779	0.55646	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.69	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5079	0.67764	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	SPG20	35803734	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.084000	0.76866	1.421000	0.47157	0.561000	0.74099	.		0.313	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		Intron	50	188	1	0	5.73435e-26	1	6.59582e-26	50	188					A	36905734	C	A	36905734	5	1	79	1	0	0	0	0	0	0	1	0	15094	695	24	3	1218	3	SPG20	13	36905734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4939	36905734	78264144	14122	24439											
CCNA1	8900	broad.mit.edu	37	chr13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatgctggtagattcatctCtcctctcccagtctgaagat	7	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000255465.4	+	4	835	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I			P78396	CCNA1_HUMAN	cyclin A1	191					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATTCATCTCTCCTCTCCCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(568-570)Ctc>Atc		cyclin A1							193	187	189					13																	37012230		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012230C>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.571C>A	13.37:g.37012230C>A	ENSP00000255465:p.Leu191Ile					CCNA1_ENST00000255465.4_Missense_Mutation_p.L191I|CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I	p.L190I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	4	918	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	191					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.568C>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221422	0.09863	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15718	2.45;2.45;2.4;2.4	5.76	1.58	0.23477	.	1.145020	0.06264	N	0.694418	T	0.12008	0.0292	L	0.33137	0.985	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.19946	0.027;0.016	T	0.40232	-0.9574	10	0.07990	T	0.79	.	6.1055	0.20071	0.1185:0.3557:0.442:0.0838	.	190;191	P78396-2;P78396	.;CCNA1_HUMAN	I	147;147;190;191	ENSP00000400666:L147I;ENSP00000409873:L147I;ENSP00000396479:L190I;ENSP00000255465:L191I	ENSP00000255465:L191I	L	+	1	0	CCNA1	35910230	0.889000	0.30405	0.000000	0.03702	0.004000	0.04260	0.571000	0.23669	-0.054000	0.13266	0.563000	0.77884	CTC		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		130	746	1	0	4.74804e-72	1	6.03895e-72	130	746					A	37012230	C	A	37012230	3	1	79	1	0	0	0	0	1	0	0	0	2918	913	32	3	585	3	CCNA1	13	37012230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106496	37012230	78157648	14123	24440											
CCNA1	8900	broad.mit.edu	37	chr13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacttgaggcgacaaggaGtgtgcgtcaggactgagaac	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000255465.4	+	6	1333	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M			P78396	CCNA1_HUMAN	cyclin A1	357					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCGACAAGGAGTGTGCGTCAG	0.458																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(1066-1068)Gtg>Atg		cyclin A1							141	138	139					13																	37014291		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014291G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1069G>A	13.37:g.37014291G>A	ENSP00000255465:p.Val357Met					CCNA1_ENST00000255465.4_Missense_Mutation_p.V357M|CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M	p.V356M	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1416	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	357					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1066G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594595	0.66219	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.03	6.03	0.97812	Cyclin, C-terminal (1);Cyclin-like (3);	0.165896	0.53938	D	0.000060	T	0.37999	0.1024	L	0.58354	1.805	0.53688	D	0.999974	P;P	0.40602	0.723;0.588	P;P	0.47915	0.561;0.472	T	0.03394	-1.1041	10	0.54805	T	0.06	.	15.6123	0.76737	0.067:0.0:0.933:0.0	.	356;357	P78396-2;P78396	.;CCNA1_HUMAN	M	313;313;356;357	ENSP00000400666:V313M;ENSP00000409873:V313M;ENSP00000396479:V356M;ENSP00000255465:V357M	ENSP00000255465:V357M	V	+	1	0	CCNA1	35912291	1.000000	0.71417	0.952000	0.39060	0.674000	0.39518	5.364000	0.66110	2.868000	0.98415	0.555000	0.69702	GTG		0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		75	502	0	0	0	1	0	75	502					A	37014291	G	A	37014291	3	1	79	1	0	0	0	0	1	0	0	0	2918	1029	36	2	1091	2	CCNA1	13	37014291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2061	37014291	78155587	14124	24441											
SMAD9	4093	broad.mit.edu	37	chr13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggttatattcactgtGtcttggcacgagcacaggag	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000399275.2	-	2	578	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y|SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y			O15198	SMAD9_HUMAN	SMAD family member 9	147					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTCACTGTGTCTTGGCACG	0.527																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(439-441)Cac>Tac		SMAD family member 9							97	86	90					13																	37447026		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37447026G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.439C>T	13.37:g.37447026G>A	ENSP00000382216:p.His147Tyr					SMAD9_ENST00000399275.2_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y	p.H147Y	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	3	781	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	147					A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.439C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092689	0.56075	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94376	-3.41;-3.4;-3.41	5.24	5.24	0.73138	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	D	0.88287	0.2940	10	0.29301	T	0.29	.	18.172	0.89749	0.0:0.0:1.0:0.0	.	147;147	O15198-2;O15198	.;SMAD9_HUMAN	Y	147	ENSP00000382216:H147Y;ENSP00000239885:H147Y;ENSP00000369154:H147Y	ENSP00000239885:H147Y	H	-	1	0	SMAD9	36345026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.590000	0.87494	0.563000	0.77884	CAC		0.527	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		38	170	0	0	0	1	0	38	170					A	37447026	G	A	37447026	3	1	79	1	0	0	0	0	1	0	0	0	14814	1377	48	2	984	2	SMAD9	13	37447026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432735	37447026	77722852	14125	24442											
ALG5	29880	broad.mit.edu	37	chr13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttctcaccagtacgaGggctgcggccgccagcgccg	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_ENST00000496689.1_Intron|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|EXOSC8_ENST00000389704.3_5'Flank	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACCAGTACGAGGGCTGCGGCC	0.701																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(58-60)Ctc>Ttc		ALG5, dolichyl-phosphate beta-glucosyltransferase							17	21	20					13																	37573380		2187	4284	6471	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37573380G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.58C>T	13.37:g.37573380G>A	ENSP00000239891:p.Leu20Phe					EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron	p.L20F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	1	124	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	20					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.58C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	g	9.080	0.998965	0.19121	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83992	-1.79;-1.21	5.22	3.48	0.39840	.	0.248451	0.33753	N	0.004583	D	0.84808	0.5554	L	0.49640	1.575	0.45403	D	0.998389	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80491	-0.1359	10	0.10636	T	0.68	.	8.6488	0.34022	0.0816:0.1539:0.7646:0.0	.	20;20	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	20	ENSP00000239891:L20F;ENSP00000389647:L20F	ENSP00000239891:L20F	L	-	1	0	ALG5	36471380	0.197000	0.23362	0.025000	0.17156	0.007000	0.05969	0.743000	0.26231	1.201000	0.43203	-0.215000	0.12644	CTC		0.701	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		27	164	0	0	0	1	0	27	164					A	37573380	G	A	37573380	3	1	79	1	0	0	0	0	1	0	0	0	521	1000	35	2	956	2	ALG5	13	37573380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126354	37573380	77596498	14126	24443											
EXOSC8	11340	broad.mit.edu	37	chr13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaggaacatctggcaacagGaaccttaacaatagtaatgg	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378																																						ENST00000389704.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(658-660)gGa>gTa		exosome component 8							90	82	85					13																	37582916		2203	4300	6503	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37582916G>T	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.659G>T	13.37:g.37582916G>T	ENSP00000374354:p.Gly220Val						p.G220V	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	10	924	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	220					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.659G>T	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181058	0.78677	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.52526	0.66	5.74	5.74	0.90152	Exoribonuclease, phosphorolytic domain 2 (2);	0.098049	0.64402	D	0.000001	T	0.75882	0.3910	M	0.91300	3.195	0.80722	D	1	P;D	0.71674	0.858;0.998	P;D	0.67382	0.732;0.951	T	0.79729	-0.1681	10	0.54805	T	0.06	-21.2381	19.9173	0.97066	0.0:0.0:1.0:0.0	.	192;220	Q5JXM0;Q96B26	.;EXOS8_HUMAN	V	220;192	ENSP00000374354:G220V	ENSP00000369137:G192V	G	+	2	0	EXOSC8	36480916	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.849000	0.75414	2.707000	0.92482	0.563000	0.77884	GGA		0.378	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		31	184	1	0	8.73648e-17	1	9.61379e-17	31	184					T	37582916	G	T	37582916	3	4	79	1	0	0	0	0	1	0	0	0	5338	1174	41	3	697	3	EXOSC8	13	37582916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9536	37582916	77586962	14127	24444											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgacgcccagtacccaTcaggaagttatctggtttaa	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGTACCCATCAGGAAGTTA	0.408																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(430-432)Atg>Gtg		casein kinase 1, alpha 1-like							200	183	189					13																	37678964		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678964T>C	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.430A>G	13.37:g.37678964T>C	ENSP00000369126:p.Met144Val						p.M144V	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	839	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	144			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.430A>G	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544521	0.45280	.	.	ENSG00000180138	ENST00000379800	T	0.62232	0.04	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084250	0.85682	D	0.000000	T	0.61311	0.2337	M	0.64080	1.96	0.42120	D	0.991423	P	0.51147	0.942	P	0.50109	0.631	T	0.62286	-0.6886	10	0.72032	D	0.01	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	144	Q8N752	KC1AL_HUMAN	V	144	ENSP00000369126:M144V	ENSP00000369126:M144V	M	-	1	0	CSNK1A1L	36576964	1.000000	0.71417	0.980000	0.43619	0.882000	0.50991	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	ATG		0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		97	478	0	0	0	1	0	97	478					C	37678964	T	C	37678964	3	2	79	1	0	0	0	0	1	0	0	0	3962	1435	50	4	587	4	CSNK1A1L	13	37678964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96048	37678964	77490914	14128	24445											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacgtctccaaaggagccaGacccgatcttccgcaccagt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAGGAGCCAGACCCGATCTT	0.557																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(73-75)tCt>tTt		casein kinase 1, alpha 1-like							133	123	127					13																	37679320		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679320G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.74C>T	13.37:g.37679320G>A	ENSP00000369126:p.Ser25Phe						p.S25F	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	483	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	25			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.74C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454180	0.26161	.	.	ENSG00000180138	ENST00000379800	T	0.68331	-0.32	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.98646	4.29	0.43137	D	0.994882	B	0.22800	0.075	B	0.27170	0.077	T	0.76203	-0.3045	10	0.87932	D	0	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	25	Q8N752	KC1AL_HUMAN	F	25	ENSP00000369126:S25F	ENSP00000369126:S25F	S	-	2	0	CSNK1A1L	36577320	0.053000	0.20554	0.920000	0.36463	0.996000	0.88848	1.522000	0.35921	0.686000	0.31488	0.561000	0.74099	TCT		0.557	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		62	451	0	0	0	1	0	62	451					A	37679320	G	A	37679320	3	1	79	1	0	0	0	0	1	0	0	0	3962	942	33	2	943	2	CSNK1A1L	13	37679320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356	37679320	77490558	14129	24446											
POSTN	10631	broad.mit.edu	37	chr13	38138654	38138654	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactatagccaatacacttAccttgaacttttttgttggc	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATACACTTACCTTGAACTT	0.318																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.e22+1		periostin, osteoblast specific factor							177	160	166					13																	38138654		2203	4299	6502	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138654A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2473+1T>C	13.37:g.38138654A>G						POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site		NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2591	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37		CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.513056	0.12944	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.269	0.26246	0.7765:0.1462:0.0773:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37036654	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.135000	0.50546	0.403000	0.25479	0.454000	0.30748	.		0.318	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	10	323	0	0	0	1	0	10	323					G	38138654	A	G	38138654	5	3	79	1	0	0	0	0	0	0	1	0	12301	405	14	4	43	4	POSTN	13	38138654	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	459334	38138654	77031224	14130	24447											
POSTN	10631	broad.mit.edu	37	chr13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaataggcttacctaaagCgcttatcttgttttaacttt	5	8	1	0	rs200308301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1522-1524)cGc>cAc		periostin, osteoblast specific factor							271	260	264					13																	38154704		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154704C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1523G>A	13.37:g.38154704C>T	ENSP00000369071:p.Arg508His					POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H	p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1640	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	508			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1523G>A	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.551710	0.86127	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.96210	0.8764	M	0.80183	2.485	0.45066	D	0.998089	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	0.91635	0.999;0.998;0.993;0.998;0.995;0.975;0.993	D	0.96451	0.9334	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:1.0:0.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	508	ENSP00000437959:R508H;ENSP00000369073:R508H;ENSP00000369071:R508H;ENSP00000369067:R508H;ENSP00000369066:R508H;ENSP00000437953:R508H	ENSP00000369066:R508H	R	-	2	0	POSTN	37052704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.236000	0.65354	2.472000	0.83506	0.557000	0.71058	CGC		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		71	792	0	0	0	1	0	71	792					T	38154704	C	T	38154704	3	4	79	1	0	0	0	0	1	0	0	0	12301	768	27	1	1039	1	POSTN	13	38154704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16050	38154704	77015174	14131	24448											
POSTN	10631	broad.mit.edu	37	chr13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgtctcttccaagggCctccaatatgtccgatgtga	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(784-786)Gcc>Acc		periostin, osteoblast specific factor							106	92	97					13																	38160387		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160387C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.784G>A	13.37:g.38160387C>T	ENSP00000369071:p.Ala262Thr					POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T	p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	901	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	262			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.784G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500245	0.04291	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.67	-11.3	0.00108	FAS1 domain (4);	0.942284	0.09131	N	0.844389	T	0.55705	0.1937	N	0.00602	-1.34	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.007;0.002;0.002;0.004;0.001;0.002	T	0.52601	-0.8554	10	0.02654	T	1	.	7.6951	0.28590	0.4374:0.1388:0.0:0.4238	.	262;262;262;262;262;262;262	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	262;262;262;262;262;262;179	ENSP00000437959:A262T;ENSP00000369073:A262T;ENSP00000369071:A262T;ENSP00000369067:A262T;ENSP00000369066:A262T;ENSP00000437953:A262T	ENSP00000369066:A262T	A	-	1	0	POSTN	37058387	0.000000	0.05858	0.017000	0.16124	0.496000	0.33645	-0.702000	0.05069	-3.501000	0.00151	-0.169000	0.13324	GCC		0.453	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		56	260	0	0	0	1	0	56	260					T	38160387	C	T	38160387	3	4	79	1	0	0	0	0	1	0	0	0	12301	739	26	2	1794	2	POSTN	13	38160387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	38160387	77009491	14132	24449											
TRPC4	7223	broad.mit.edu	37	chr13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagataaacttgataaAtggcttcctgatgaacagtc	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	363					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1087-1089)Ttt>Gtt		transient receptor potential cation channel, subfamily C, member 4							119	115	116					13																	38266283		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266283A>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1087T>G	13.37:g.38266283A>C	ENSP00000369027:p.Phe363Val					TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V	p.F363V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1944	-			363					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1087T>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509677	0.85282	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.989;0.999;0.968;0.994	D;D;D;D;P;D	0.76071	0.967;0.976;0.979;0.987;0.889;0.947	T	0.75013	-0.3467	10	0.54805	T	0.06	-20.5245	15.5786	0.76414	1.0:0.0:0.0:0.0	.	363;363;363;190;363;363	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	363;363;190;190;363;363;363;363;363	ENSP00000369027:F363V;ENSP00000369003:F363V;ENSP00000342580:F190V;ENSP00000369001:F190V;ENSP00000410133:F363V;ENSP00000348025:F363V;ENSP00000351264:F363V;ENSP00000368995:F363V;ENSP00000414316:F363V	ENSP00000342580:F190V	F	-	1	0	TRPC4	37164283	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.172000	0.94808	2.130000	0.65690	0.383000	0.25322	TTT		0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		39	206	0	0	0	1	0	39	206					C	38266283	A	C	38266283	3	2	79	1	0	0	0	0	1	0	0	0	16633	101	4	4	1893	4	TRPC4	13	38266283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105896	38266283	76903595	14133	24450											
TRPC4	7223	broad.mit.edu	37	chr13	38266348	38266348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcacacagagaagacaGgaaaaagaagtcctattatg	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266348G>T	ENST00000379705.3	-	4	1879	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAAGACAGGAAAAAGAAG	0.478																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1021-1023)cCt>cAt		transient receptor potential cation channel, subfamily C, member 4							112	102	105					13																	38266348		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266348G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1022C>A	13.37:g.38266348G>T	ENSP00000369027:p.Pro341His					TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H	p.P341H			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1879	-			341					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1022C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440831	0.83993	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.95187	3.635	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	0.91635	0.992;0.994;0.999;0.997;0.992;0.987	D	0.96799	0.9588	10	0.87932	D	0	-15.767	19.3656	0.94460	0.0:0.0:1.0:0.0	.	341;341;341;168;341;341	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	341;341;168;168;341;341;341;341;341	ENSP00000369027:P341H;ENSP00000369003:P341H;ENSP00000342580:P168H;ENSP00000369001:P168H;ENSP00000410133:P341H;ENSP00000348025:P341H;ENSP00000351264:P341H;ENSP00000368995:P341H;ENSP00000414316:P341H	ENSP00000342580:P168H	P	-	2	0	TRPC4	37164348	1.000000	0.71417	0.917000	0.36280	0.953000	0.61014	9.690000	0.98676	2.637000	0.89404	0.467000	0.42956	CCT		0.478	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		42	172	1	0	2.26627e-22	1	2.56399e-22	42	172					T	38266348	G	T	38266348	3	4	79	1	0	0	0	0	1	0	0	0	16633	1000	35	3	1958	3	TRPC4	13	38266348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	38266348	76903530	14134	24451											
UFM1	51569	broad.mit.edu	37	chr13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccgctcttttcctcaggtCgaaggtttcctttaagatca	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379649.1_5'UTR|UFM1_ENST00000379641.1_5'Flank	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567																																						ENST00000239878.4																			0				lung(2)|ovary(1)	3						c.(4-6)tCg>tTg		ubiquitin-fold modifier 1							148	136	140					13																	38924138		2203	4300	6503	SO:0001583	missense	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924138C>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"chromosome 13 open reading frame 20"	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.5C>T	13.37:g.38924138C>T	ENSP00000239878:p.Ser2Leu					UFM1_ENST00000379649.1_5'UTR	p.S2L	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	2	44	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	2					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Missense_Mutation	SNP	ENST00000239878.4	37	c.5C>T	CCDS9366.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224134	0.79576	.	.	ENSG00000120686	ENST00000239878	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	D;P	0.55800	0.973;0.843	P;B	0.44561	0.453;0.254	T	0.63220	-0.6686	7	0.87932	D	0	.	13.9271	0.63968	0.0:1.0:0.0:0.0	.	2;2	Q5VXS2;P61960	.;UFM1_HUMAN	L	2	.	ENSP00000239878:S2L	S	+	2	0	UFM1	37822138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.923000	0.63412	2.648000	0.89879	0.655000	0.94253	TCG		0.567	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		137	528	0	0	0	1	0	137	528					T	38924138	C	T	38924138	3	4	79	1	0	0	0	0	1	0	0	0	16990	893	31	1	11	1	UFM1	13	38924138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657790	38924138	76245740	14135	24452											
FREM2	341640	broad.mit.edu	37	chr13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccacacagccgccagtcGctcaccaaacagggactgga	10	16	1	0	rs201675703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R273H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCGCCAGTCGCTCACCAAAC	0.622																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.R273H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(817-819)cGc>cAc		FRAS1 related extracellular matrix protein 2							57	60	59					13																	39262299		2202	4299	6501	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262299G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.818G>A	13.37:g.39262299G>A	ENSP00000280481:p.Arg273His						p.R273H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1034	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	273					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.818G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	FREM2	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC		0.622	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		45	497	0	0	0	1	0	45	497					A	39262299	G	A	39262299	3	1	79	1	0	0	0	0	1	0	0	0	6072	1087	38	1	820	1	FREM2	13	39262299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338161	39262299	75907579	14136	24453											
FREM2	341640	broad.mit.edu	37	chr13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatacccatggtggtggaGctgcgttcacgaggggctcc	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	285					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(853-855)gaG>gaT		FRAS1 related extracellular matrix protein 2							59	58	58					13																	39262336		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262336G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.855G>T	13.37:g.39262336G>T	ENSP00000280481:p.Glu285Asp						p.E285D	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1071	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	285					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.855G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526850	0.64860	.	.	ENSG00000150893	ENST00000280481	T	0.20881	2.04	5.94	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.02009	-1.1230	10	0.44086	T	0.13	.	12.566	0.56310	0.1343:0.0:0.8657:0.0	.	285	Q5SZK8	FREM2_HUMAN	D	285	ENSP00000280481:E285D	ENSP00000280481:E285D	E	+	3	2	FREM2	38160336	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.943000	0.49026	0.856000	0.35383	0.561000	0.74099	GAG		0.607	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		77	374	1	0	1.15098e-32	1	1.36004e-32	77	374					T	39262336	G	T	39262336	3	4	79	1	0	0	0	0	1	0	0	0	6072	962	34	3	857	3	FREM2	13	39262336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	39262336	75907542	14137	24454											
FREM2	341640	broad.mit.edu	37	chr13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggctccggtggtcacccGgaataccggtcttattctct	10	12	3	0	rs533045176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	443					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R443Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTCACCCGGAATACCGGT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17008	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7																			1	Substitution - Missense(1)	p.R443Q(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1327-1329)cGg>cAg		FRAS1 related extracellular matrix protein 2							63	71	68					13																	39262809		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262809G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1328G>A	13.37:g.39262809G>A	ENSP00000280481:p.Arg443Gln						p.R443Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1544	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	443					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1328G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667568	0.67814	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.76	5.76	0.90799	.	0.055642	0.64402	D	0.000002	T	0.22166	0.0534	L	0.39633	1.23	0.58432	D	0.999996	D	0.58620	0.983	P	0.45232	0.474	T	0.00745	-1.1584	10	0.30078	T	0.28	.	15.5538	0.76173	0.0:0.0:0.8615:0.1385	.	443	Q5SZK8	FREM2_HUMAN	Q	443	ENSP00000280481:R443Q	ENSP00000280481:R443Q	R	+	2	0	FREM2	38160809	0.828000	0.29307	0.999000	0.59377	0.971000	0.66376	3.651000	0.54431	2.724000	0.93272	0.561000	0.74099	CGG		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		80	353	0	0	0	1	0	80	353					A	39262809	G	A	39262809	3	1	79	1	0	0	0	0	1	0	0	0	6072	1116	39	1	1330	1	FREM2	13	39262809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	39262809	75907069	14138	24455											
FREM2	341640	broad.mit.edu	37	chr13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgacaacctggtgcttcGcatggtggatggaggaggca	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	535					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1603-1605)cGc>cAc		FRAS1 related extracellular matrix protein 2							48	38	42					13																	39263085		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263085G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1604G>A	13.37:g.39263085G>A	ENSP00000280481:p.Arg535His						p.R535H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1820	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	535					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1604G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120862	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	4.54	0.55810	.	0.055337	0.64402	D	0.000001	D	0.86138	0.5861	M	0.85630	2.765	0.80722	D	1	D	0.64830	0.994	P	0.54856	0.762	D	0.88654	0.3184	10	0.72032	D	0.01	.	15.4664	0.75403	0.0:0.0:0.8601:0.1399	.	535	Q5SZK8	FREM2_HUMAN	H	535	ENSP00000280481:R535H	ENSP00000280481:R535H	R	+	2	0	FREM2	38161085	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.443000	0.52907	1.267000	0.44247	0.561000	0.74099	CGC		0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		18	110	0	0	0	1	0	18	110					A	39263085	G	A	39263085	3	1	79	1	0	0	0	0	1	0	0	0	6072	1087	38	1	1606	1	FREM2	13	39263085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276	39263085	75906793	14139	24456											
FREM2	341640	broad.mit.edu	37	chr13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctaatcagtccgggctacaGcggtttgtgattcgtatcca	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2059-2061)caG>caT		FRAS1 related extracellular matrix protein 2							85	84	84					13																	39263542		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263542G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2061G>T	13.37:g.39263542G>T	ENSP00000280481:p.Gln687His						p.Q687H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2277	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	687					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2061G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108269	0.01813	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.97	0.709	0.18150	.	0.217752	0.49916	N	0.000137	T	0.12135	0.0295	N	0.26042	0.785	0.22754	N	0.998775	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	10	0.06099	T	0.92	.	7.0458	0.25044	0.2654:0.2226:0.512:0.0	.	687	Q5SZK8	FREM2_HUMAN	H	687	ENSP00000280481:Q687H	ENSP00000280481:Q687H	Q	+	3	2	FREM2	38161542	0.899000	0.30636	0.853000	0.33588	0.926000	0.56050	1.122000	0.31295	0.136000	0.18733	0.655000	0.94253	CAG		0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		72	422	1	0	9.35569e-46	1	1.14784e-45	72	422					T	39263542	G	T	39263542	3	4	79	1	0	0	0	0	1	0	0	0	6072	962	34	3	2063	3	FREM2	13	39263542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	39263542	75906336	14140	24457											
FREM2	341640	broad.mit.edu	37	chr13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacagcggtttgtgattcGtatccatcctgtggatcgcc	11	11	0	1	rs367642497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	692					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2074-2076)cGt>cAt		FRAS1 related extracellular matrix protein 2		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	83	81	81		2075	6	1	13		81	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	692/3170	39263556	2,13004	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263556G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2075G>A	13.37:g.39263556G>A	ENSP00000280481:p.Arg692His						p.R692H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2291	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	692					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2075G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722443	0.48728	4.54E-4	0.0	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.97	5.97	0.96955	.	0.066368	0.64402	D	0.000002	T	0.31451	0.0797	L	0.35593	1.075	0.09310	N	0.999999	D	0.64830	0.994	P	0.53006	0.715	T	0.19778	-1.0295	10	0.20046	T	0.44	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	692	Q5SZK8	FREM2_HUMAN	H	692	ENSP00000280481:R692H	ENSP00000280481:R692H	R	+	2	0	FREM2	38161556	0.571000	0.26659	0.975000	0.42487	0.969000	0.65631	3.169000	0.50809	2.837000	0.97791	0.655000	0.94253	CGT		0.567	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		60	392	0	0	0	1	0	60	392					A	39263556	G	A	39263556	3	1	79	1	0	0	0	0	1	0	0	0	6072	1145	40	1	2077	1	FREM2	13	39263556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	39263556	75906322	14141	24458											
FREM2	341640	broad.mit.edu	37	chr13	39264040	39264040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgagacagagttgcaCgtgaatgatgtagacactga	13	6	0	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2557-2559)caC>caT		FRAS1 related extracellular matrix protein 2							116	107	110					13																	39264040		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264040C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2559C>T	13.37:g.39264040C>T							p.H853H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2775	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	853					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.2559C>T	CCDS31960.1																																																																																				0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		50	217	0	0	0	1	0	50	217					T	39264040	C	T	39264040	2	4	79	1	0	0	0	0	0	0	0	1	6072	535	19	1		1	FREM2	13	39264040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	39264040	75905838	14142	24459											
FREM2	341640	broad.mit.edu	37	chr13	39264502	39264502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcagtttactcaaagGgacatcttggagggctctgt	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1007					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3019-3021)agG>agA		FRAS1 related extracellular matrix protein 2							140	143	142					13																	39264502		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264502G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3021G>A	13.37:g.39264502G>A							p.R1007R	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3237	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1007					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.3021G>A	CCDS31960.1																																																																																				0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		81	523	0	0	0	1	0	81	523					A	39264502	G	A	39264502	2	1	79	1	0	0	0	0	0	0	0	1	6072	1223	43	2		2	FREM2	13	39264502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	39264502	75905376	14143	24460											
FREM2	341640	broad.mit.edu	37	chr13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctctgagaaatcaagaGcagggattgccataagtgct	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1129					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3385-3387)Gca>Aca		FRAS1 related extracellular matrix protein 2							62	63	63					13																	39264866		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264866G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3385G>A	13.37:g.39264866G>A	ENSP00000280481:p.Ala1129Thr						p.A1129T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3601	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1129					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3385G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621270	0.46736	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.07	5.23	0.72850	.	0.104847	0.64402	N	0.000003	T	0.48077	0.1480	M	0.64997	1.995	0.58432	D	0.999998	P	0.52316	0.952	P	0.52598	0.703	T	0.41645	-0.9497	10	0.31617	T	0.26	.	15.2394	0.73455	0.0668:0.0:0.9332:0.0	.	1129	Q5SZK8	FREM2_HUMAN	T	1129	ENSP00000280481:A1129T	ENSP00000280481:A1129T	A	+	1	0	FREM2	38162866	0.982000	0.34865	1.000000	0.80357	0.961000	0.63080	1.718000	0.38001	1.588000	0.49971	0.650000	0.86243	GCA		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		24	252	0	0	0	1	0	24	252					A	39264866	G	A	39264866	3	1	79	1	0	0	0	0	1	0	0	0	6072	971	34	2	3387	2	FREM2	13	39264866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	39264866	75905012	14144	24461											
FREM2	341640	broad.mit.edu	37	chr13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgtttatgagagaatTtatggtgatggaaggcatga	14	1	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1198					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3592-3594)tTt>tGt		FRAS1 related extracellular matrix protein 2							249	237	241					13																	39265074		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265074T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3593T>G	13.37:g.39265074T>G	ENSP00000280481:p.Phe1198Cys						p.F1198C	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3809	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1198					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3593T>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452837	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.51325	0.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.77973	-0.2386	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1198	Q5SZK8	FREM2_HUMAN	C	1198	ENSP00000280481:F1198C	ENSP00000280481:F1198C	F	+	2	0	FREM2	38163074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.333000	0.79357	0.533000	0.62120	TTT		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		231	980	0	0	0	1	0	231	980					G	39265074	T	G	39265074	3	3	79	1	0	0	0	0	1	0	0	0	6072	1841	64	4	3595	4	FREM2	13	39265074	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208	39265074	75904804	14145	24462											
FREM2	341640	broad.mit.edu	37	chr13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccagtccaaatactccGttgaagaagatgttggtgag	10	9	0	4	rs548177107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		15518	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7																			1	Substitution - Missense(1)	p.V1893I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5677-5679)Gtt>Att		FRAS1 related extracellular matrix protein 2							205	195	198					13																	39357242		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357242G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5677G>A	13.37:g.39357242G>A	ENSP00000280481:p.Val1893Ile						p.V1893I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5893	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1893			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5677G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		136	522	0	0	0	1	0	136	522					A	39357242	G	A	39357242	3	1	79	1	0	0	0	0	1	0	0	0	6072	1145	40	1	5695	1	FREM2	13	39357242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92168	39357242	75812636	14146	24463											
FREM2	341640	broad.mit.edu	37	chr13	39448647	39448647	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccaaccagcatgcgcatCggtgatgaggggcgcttggc	14	11	0	2	rs374308184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2735					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8203-8205)atC>atT		FRAS1 related extracellular matrix protein 2		T		1,4405	2.1+/-5.4	0,1,2202	180	160	167		8205	-2.5	0	13		167	0,8600		0,0,4300	no	coding-synonymous	FREM2	NM_207361.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2735/3170	39448647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39448647C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8205C>T	13.37:g.39448647C>T							p.I2735I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	18	8421	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2735					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8205C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		67	410	0	0	0	1	0	67	410					T	39448647	C	T	39448647	2	4	79	1	0	0	0	0	0	0	0	1	6072	874	31	1		1	FREM2	13	39448647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91405	39448647	75721231	14147	24464											
FREM2	341640	broad.mit.edu	37	chr13	39450468	39450468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataccgcctgccagtcacCtgcaaccccagagaacctgt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2831					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8491-8493)acC>acT		FRAS1 related extracellular matrix protein 2							125	105	112					13																	39450468		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39450468C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8493C>T	13.37:g.39450468C>T							p.T2831T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	20	8709	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2831					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8493C>T	CCDS31960.1																																																																																				0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		74	333	0	0	0	1	0	74	333					T	39450468	C	T	39450468	2	4	79	1	0	0	0	0	0	0	0	1	6072	668	24	2		2	FREM2	13	39450468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1821	39450468	75719410	14148	24465											
STOML3	161003	broad.mit.edu	37	chr13	39541021	39541021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgccaccaatgccctctaGtatattcatgggcagaggaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	273					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATGCCCTCTAGTATATTCATG	0.498																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(817-819)Cta>Tta		stomatin (EPB72)-like 3							98	95	96					13																	39541021		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane		g.chr13:39541021G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.817C>T	13.37:g.39541021G>A						STOML3_ENST00000423210.1_Silent_p.L264L	p.L273L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1161	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	273					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.817C>T	CCDS9367.1																																																																																				0.498	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			68	350	0	0	0	1	0	68	350					A	39541021	G	A	39541021	2	1	79	1	0	0	0	0	0	0	0	1	15367	1020	36	2		2	STOML3	13	39541021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90553	39541021	75628857	14149	24466											
C13orf23	80209	broad.mit.edu	37	chr13	39587359	39587359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtggtggaagggaaatagagGaaagaggatttgaaccattt	15	2	0	3	rs145907115		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39587359G>T	ENST00000352251.3	-	11	2863	c.2030C>A	c.(2029-2031)tCc>tAc	p.S677Y	PROSER1_ENST00000350125.3_Missense_Mutation_p.S655Y|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	677	Ser-rich.																GGAAATAGAGGAAAGAGGATT	0.428																																						ENST00000352251.3																			0											c.(2029-2031)tCc>tAc		proline and serine rich 1							124	117	119					13																	39587359		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587359G>T	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.2030C>A	13.37:g.39587359G>T	ENSP00000332034:p.Ser677Tyr					PROSER1_ENST00000350125.3_Missense_Mutation_p.S655Y|PROSER1_ENST00000484434.2_Intron	p.S677Y	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	2863	-			677			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2030C>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025705	0.75390	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	4.9	4.9	0.64082	.	.	.	.	.	T	0.53286	0.1787	N	0.24115	0.695	0.48452	D	0.99965	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	T	0.50668	-0.8801	8	.	.	.	-11.1091	17.4181	0.87506	0.0:0.0:1.0:0.0	.	655;677	A6NJ97;Q86XN7	.;PRSR1_HUMAN	Y	677;655	ENSP00000332034:S677Y;ENSP00000339123:S655Y	.	S	-	2	0	PROSER1	38485359	0.985000	0.35326	0.033000	0.17914	0.687000	0.40016	5.668000	0.68074	2.421000	0.82119	0.561000	0.74099	TCC		0.428	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		68	361	1	0	3.07281e-33	1	3.63882e-33	68	361					T	39587359	G	T	39587359	3	4	79	1	0	0	0	0	1	0	0	0	1726	1174	41	3	816	3	C13orf23	13	39587359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46338	39587359	75582519	14150	24467											
NHLRC3	387921	broad.mit.edu	37	chr13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacccccagtgggaaGcattggggagtgttctgtga	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000379600.3	+	7	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	292						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483																																						ENST00000379600.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.(874-876)aGc>aTc		NHL repeat containing 3							76	73	74					13																	39621894		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39621894G>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.875G>T	13.37:g.39621894G>T	ENSP00000368920:p.Ser292Ile					NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	p.S292I	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	7	1197	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	292					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.875G>T	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584687	0.13749	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.65364	-0.12;-0.15;-0.09	5.46	-1.72	0.08107	Six-bladed beta-propeller, TolB-like (1);	0.843236	0.11418	N	0.566115	T	0.44435	0.1293	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27625	0.183;0.138	B;B	0.24541	0.039;0.054	T	0.27054	-1.0085	9	.	.	.	-0.0242	1.6697	0.02809	0.3817:0.2268:0.277:0.1146	.	225;292	B4DTL0;Q5JS37	.;NHLC3_HUMAN	I	95;292;225	ENSP00000418127:S95I;ENSP00000368920:S292I;ENSP00000368919:S225I	.	S	+	2	0	NHLRC3	38519894	0.001000	0.12720	0.102000	0.21198	0.486000	0.33341	0.046000	0.14035	-0.188000	0.10499	0.563000	0.77884	AGC		0.483	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		38	189	1	0	9.45814e-24	1	1.07742e-23	38	189					T	39621894	G	T	39621894	3	4	79	1	0	0	0	0	1	0	0	0	10449	971	34	3	901	3	NHLRC3	13	39621894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34535	39621894	75547984	14151	24468											
COG6	57511	broad.mit.edu	37	chr13	40235011	40235011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagatatgacaagtcGcctacaggtattatataatg	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:40235011G>A	ENST00000455146.3	+	3	412	c.362G>A	c.(361-363)cGc>cAc	p.R121H	COG6_ENST00000416691.1_Missense_Mutation_p.R121H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	121					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATGACAAGTCGCCTACAGGTA	0.313																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(361-363)cGc>cAc		component of oligomeric golgi complex 6							94	92	93					13																	40235011		2203	4299	6502	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40235011G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.362G>A	13.37:g.40235011G>A	ENSP00000397441:p.Arg121His					COG6_ENST00000455146.3_Missense_Mutation_p.R121H	p.R121H	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	3	462	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	121					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.362G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557490	0.27827	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39147	1.195	0.80722	D	1	P;B	0.43024	0.798;0.3	B;B	0.36608	0.229;0.066	T	0.09250	-1.0683	10	0.17369	T	0.5	-8.4541	11.09	0.48110	0.1504:0.0:0.8496:0.0	.	142;121	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	121;152;121;121	ENSP00000403733:R121H;ENSP00000412877:R121H;ENSP00000397441:R121H	ENSP00000255468:R152H	R	+	2	0	COG6	39133011	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	7.110000	0.77069	0.745000	0.32763	0.655000	0.94253	CGC		0.313	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			8	267	0	0	0	1	0	8	267					A	40235011	G	A	40235011	3	1	79	1	0	0	0	0	1	0	0	0	3671	1087	38	1	372	1	COG6	13	40235011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	613117	40235011	74934867	14152	24469											
MRPS31	10240	broad.mit.edu	37	chr13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttggggggctttgTtgttcgtacatttactgtgc	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	118						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(352-354)Aca>Gca		mitochondrial ribosomal protein S31							151	141	144					13																	41340970		2203	4300	6503	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340970T>C	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"Mitochondrial ribosomal proteins / small subunits"	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.352A>G	13.37:g.41340970T>C	ENSP00000315397:p.Thr118Ala						p.T118A	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	388	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	118					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.352A>G	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754169	0.31046	.	.	ENSG00000102738	ENST00000323563	T	0.28895	1.59	4.54	-1.16	0.09678	.	0.515963	0.19542	N	0.111773	T	0.24851	0.0603	M	0.65320	2	0.18873	N	0.999985	P	0.44578	0.838	P	0.45099	0.469	T	0.09443	-1.0674	10	0.28530	T	0.3	.	0.5079	0.00590	0.174:0.205:0.1801:0.4409	.	118	Q92665	RT31_HUMAN	A	118	ENSP00000315397:T118A	ENSP00000315397:T118A	T	-	1	0	MRPS31	40238970	0.860000	0.29831	0.985000	0.45067	0.306000	0.27790	0.304000	0.19228	0.189000	0.20188	-0.360000	0.07572	ACA		0.378	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			89	443	0	0	0	1	0	89	443					C	41340970	T	C	41340970	3	2	79	1	0	0	0	0	1	0	0	0	9882	1725	60	4	859	4	MRPS31	13	41340970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1105959	41340970	73828908	14153	24470											
ELF1	1997	broad.mit.edu	37	chr13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgaaggaggagagcccGccttttgtgactgcagcatg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A491V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGAGCCCGCCTTTTGTGA	0.483																																						ENST00000239882.3																			1	Substitution - Missense(1)	p.A491V(1)	large_intestine(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1471-1473)gCg>gTg		E74-like factor 1 (ets domain transcription factor)							127	135	132					13																	41507949		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507949G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1472C>T	13.37:g.41507949G>A	ENSP00000239882:p.Ala491Val					ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	p.A491V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1786	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	491					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1472C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	ELF1	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG		0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		24	617	0	0	0	1	0	24	617					A	41507949	G	A	41507949	3	1	79	1	0	0	0	0	1	0	0	0	5071	1087	38	1	391	1	ELF1	13	41507949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166979	41507949	73661929	14154	24471											
WBP4	11193	broad.mit.edu	37	chr13	41646932	41646932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagacagcagtgaagacCgtttgggtagaaggtttaag	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	167	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358																																						ENST00000379487.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12						c.(499-501)acC>acT		WW domain binding protein 4							137	138	138					13																	41646932		2203	4300	6503	SO:0001819	synonymous_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41646932C>T	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.501C>T	13.37:g.41646932C>T						WBP4_ENST00000542082.1_Silent_p.T146T	p.T167T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	7	901	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	167			WW 2.		B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	37	c.501C>T	CCDS9375.1																																																																																				0.358	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		42	355	0	0	0	1	0	42	355					T	41646932	C	T	41646932	2	4	79	1	0	0	0	0	0	0	0	1	17315	639	23	1		1	WBP4	13	41646932	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138983	41646932	73522946	14155	24472											
MTRF1	9617	broad.mit.edu	37	chr13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccaccacataaaaaTtcctggtaaaagagagagct	6	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	409					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACATAAAAATTCCTGGTAAA	0.333																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(1225-1227)gaA>gaT		mitochondrial translational release factor 1							52	56	55					13																	41791362		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41791362T>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1227A>T	13.37:g.41791362T>A	ENSP00000368793:p.Glu409Asp					MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	p.E409D	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	10	1327	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	409					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.1227A>T	CCDS9378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.66|12.66	2.005756|2.005756	0.35415|0.35415	.|.	.|.	ENSG00000120662|ENSG00000120662	ENST00000379480;ENST00000379477|ENST00000430347	T;T|T	0.11063|0.10668	2.81;2.81|2.85	5.48|5.48	3.01|3.01	0.34805|0.34805	.|.	0.219776|.	0.45867|.	N|.	0.000340|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|B	0.36282|0.18013	0.546|0.025	B|B	0.31016|0.14578	0.123|0.011	T|T	0.07770|0.07770	-1.0755|-1.0755	10|9	0.44086|0.41790	T|T	0.13|0.15	-7.3071|-7.3071	5.4177|5.4177	0.16384|0.16384	0.1565:0.0858:0.0:0.7577|0.1565:0.0858:0.0:0.7577	.|.	409|458	O75570|B4DG01	RF1M_HUMAN|.	D|I	409|458	ENSP00000368793:E409D;ENSP00000368790:E409D|ENSP00000400031:N458I	ENSP00000368790:E409D|ENSP00000400031:N458I	E|N	-|-	3|2	2|0	MTRF1|MTRF1	40689362|40689362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.565000|0.565000	0.35776|0.35776	1.845000|1.845000	0.39279|0.39279	0.871000|0.871000	0.35750|0.35750	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		57	260	0	0	0	1	0	57	260					A	41791362	T	A	41791362	3	1	79	1	0	0	0	0	1	0	0	0	10000	1490	52	5	114	5	MTRF1	13	41791362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	144430	41791362	73378516	14156	24473											
NAA16	79612	broad.mit.edu	37	chr13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgaattgatattataccaGaatcaagtgatgagagaggc	11	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H|NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	196					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTATACCAGAATCAAGTGA	0.284																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(586-588)caG>caT		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							57	64	61					13																	41899884		2203	4299	6502	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41899884G>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.588G>T	13.37:g.41899884G>T	ENSP00000368716:p.Gln196His					NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			6	912	+			196					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.588G>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540615	0.65085	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.56863	0.2014	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.81914	0.995;0.967;0.986	T	0.52540	-0.8562	10	0.35671	T	0.21	-7.1618	14.0039	0.64451	0.0756:0.0:0.9244:0.0	.	196;196;196	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	H	196	ENSP00000368674:Q196H;ENSP00000368716:Q196H;ENSP00000386103:Q196H	ENSP00000368674:Q196H	Q	+	3	2	NAA16	40797884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.847000	0.48270	2.418000	0.82041	0.557000	0.71058	CAG		0.284	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		23	214	1	0	9.57634e-11	1	1.01752e-10	23	214					T	41899884	G	T	41899884	3	4	79	1	0	0	0	0	1	0	0	0	10160	933	33	3	610	3	NAA16	13	41899884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108522	41899884	73269994	14157	24474											
KIAA0564	23078	broad.mit.edu	37	chr13	42149881	42149881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataaaatatatttaccttcaGaatttctagtctttgcttat	3	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42149881G>T	ENST00000379310.3	-	43	5433	c.5365C>A	c.(5365-5367)Ctg>Atg	p.L1789M		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1789	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTTACCTTCAGAATTTCTAGT	0.373																																						ENST00000379310.3																			0											c.(5365-5367)Ctg>Atg		von Willebrand factor A domain containing 8							113	106	108					13																	42149881		1814	4076	5890	SO:0001583	missense	23078							g.chr13:42149881G>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5365C>A	13.37:g.42149881G>T	ENSP00000368612:p.Leu1789Met						p.L1789M	NM_015058.1	NP_055873.1					43	5433	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5365C>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880103	0.72294	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.18657	2.2	5.86	5.02	0.67125	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.44435	0.1293	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41395	-0.9511	10	0.66056	D	0.02	.	14.9613	0.71158	0.0683:0.0:0.9317:0.0	.	1789	A3KMH1	K0564_HUMAN	M	1693;1789	ENSP00000368612:L1789M	ENSP00000251030:L1693M	L	-	1	2	KIAA0564	41047881	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.884000	0.56175	1.491000	0.48482	0.655000	0.94253	CTG		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		42	214	1	0	5.44703e-19	1	6.0629e-19	42	214					T	42149881	G	T	42149881	3	4	79	1	0	0	0	0	1	0	0	0	8215	933	33	3	364	3	KIAA0564	13	42149881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249997	42149881	73019997	14158	24475											
AKAP11	11215	broad.mit.edu	37	chr13	42876137	42876137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagatggtttgcatgtGgaagataaacagaaagtcag	13	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1085					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTTGCATGTGGAAGATAAAC	0.428																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3253-3255)gtG>gtA		A kinase (PRKA) anchor protein 11							135	129	131					13																	42876137		2203	4300	6503	SO:0001819	synonymous_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876137G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3255G>A	13.37:g.42876137G>A							p.V1085V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3430	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1085					O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	c.3255G>A	CCDS9383.1																																																																																				0.428	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		87	346	0	0	0	1	0	87	346					A	42876137	G	A	42876137	2	1	79	1	0	0	0	0	0	0	0	1	447	1335	47	2		2	AKAP11	13	42876137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726256	42876137	72293741	14159	24476											
AKAP11	11215	broad.mit.edu	37	chr13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatcaggattacaggaaGcagctaagacaaccaaagtg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1383					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTACAGGAAGCAGCTAAGAC	0.388																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4147-4149)Gca>Aca		A kinase (PRKA) anchor protein 11							74	70	71					13																	42877029		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877029G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4147G>A	13.37:g.42877029G>A	ENSP00000025301:p.Ala1383Thr						p.A1383T	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4322	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1383					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4147G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989871	0.93106	.	.	ENSG00000023516	ENST00000025301	T	0.60920	0.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1383	Q9UKA4	AKA11_HUMAN	T	1383	ENSP00000025301:A1383T	ENSP00000025301:A1383T	A	+	1	0	AKAP11	41775029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.368000	0.97152	2.937000	0.99478	0.650000	0.86243	GCA		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		10	302	0	0	0	1	0	10	302					A	42877029	G	A	42877029	3	1	79	1	0	0	0	0	1	0	0	0	447	971	34	2	4169	2	AKAP11	13	42877029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	42877029	72292849	14160	24477											
TNFSF11	8600	broad.mit.edu	37	chr13	43148613	43148613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggggctggggctgggCcaggttgtctgcagcgtcgc	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000544862.1_5'UTR|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000398795.2_5'UTR			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	58					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TGGGGCTGGGCCAGGTTGTCT	0.721																																						ENST00000239849.6																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(172-174)ggC>ggT		tumor necrosis factor (ligand) superfamily, member 11							15	17	16					13																	43148613		1825	3472	5297	SO:0001819	synonymous_variant	0				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43148613C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.174C>T	13.37:g.43148613C>T						TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_5'UTR	p.G58G			O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	1	325	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	58					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.174C>T	CCDS9384.1																																																																																				0.721	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			22	98	0	0	0	1	0	22	98					T	43148613	C	T	43148613	2	4	79	1	0	0	0	0	0	0	0	1	16354	726	26	2		2	TNFSF11	13	43148613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271584	43148613	72021265	14161	24478											
EPSTI1	94240	broad.mit.edu	37	chr13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcactttgacaggcaCttctgtctggcgattctgtg	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000398762.3	-	7	613	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(613-615)aGt>aAt		epithelial stromal interaction 1 (breast)							258	241	247					13																	43500515		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43500515C>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.614G>A	13.37:g.43500515C>T	ENSP00000381746:p.Ser205Asn					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000398762.3_Missense_Mutation_p.S205N	p.S205N	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	7	678	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	205					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.614G>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115810	0.56505	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22743	1.94	5.06	3.07	0.35406	.	0.587060	0.18288	N	0.145787	T	0.19604	0.0471	M	0.62723	1.935	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.20767	0.013;0.031	T	0.22068	-1.0227	10	0.26408	T	0.33	-1.067	6.3186	0.21204	0.0:0.6543:0.0:0.3457	.	205;205	Q96J88-2;Q96J88-3	.;.	N	205;205;205;78	ENSP00000318982:S205N	ENSP00000318643:S205N	S	-	2	0	EPSTI1	42398515	0.832000	0.29368	0.002000	0.10522	0.051000	0.14879	1.041000	0.30291	0.629000	0.30376	0.655000	0.94253	AGT		0.433	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		117	631	0	0	0	1	0	117	631					T	43500515	C	T	43500515	3	4	79	1	0	0	0	0	1	0	0	0	5216	565	20	2	646	2	EPSTI1	13	43500515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351902	43500515	71669363	14162	24479											
EPSTI1	94240	broad.mit.edu	37	chr13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagattgcatcagctggagTtgttgtttctgtctgacttc	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000398762.3	-	4	371	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(370-372)caA>caC		epithelial stromal interaction 1 (breast)							147	135	139					13																	43538235		2203	4299	6502	SO:0001583	missense	94240							g.chr13:43538235T>G	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.372A>C	13.37:g.43538235T>G	ENSP00000381746:p.Gln124His					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000398762.3_Missense_Mutation_p.Q124H	p.Q124H	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	4	436	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	124					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.372A>C	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030573	0.54790	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22539	1.95	5.02	-4.44	0.03557	.	0.071421	0.56097	D	0.000026	T	0.38957	0.1060	M	0.71581	2.175	0.23162	N	0.998199	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-14.6084	13.4021	0.60889	0.0:0.6759:0.0:0.3241	.	124;124	Q96J88-2;Q96J88-3	.;.	H	124	ENSP00000318982:Q124H	ENSP00000318643:Q124H	Q	-	3	2	EPSTI1	42436235	0.508000	0.26154	0.866000	0.34008	0.957000	0.61999	-0.301000	0.08232	-0.962000	0.03604	-0.250000	0.11733	CAA		0.363	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		29	151	0	0	0	1	0	29	151					G	43538235	T	G	43538235	3	3	79	1	0	0	0	0	1	0	0	0	5216	1722	60	4	900	4	EPSTI1	13	43538235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37720	43538235	71631643	14163	24480											
ENOX1	55068	broad.mit.edu	37	chr13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgaggcttggatcaAagcctgggacacagattgag	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C|ENOX1_ENST00000482207.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	77					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTTGGATCAAAGCCTGGGAC	0.433																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(229-231)tTt>tGt		ecto-NOX disulfide-thiol exchanger 1							78	85	83					13																	43935567		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935567A>C	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.230T>G	13.37:g.43935567A>C	ENSP00000261488:p.Phe77Cys					ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C	p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	807	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	77					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.230T>G	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739477	0.69304	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.50001	0.76;0.76	5.52	5.52	0.82312	.	0.055352	0.64402	D	0.000001	T	0.59500	0.2198	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.63251	-0.6679	10	0.72032	D	0.01	-7.1115	15.6384	0.76973	1.0:0.0:0.0:0.0	.	77	Q8TC92	ENOX1_HUMAN	C	77	ENSP00000261488:F77C;ENSP00000415054:F77C	ENSP00000261488:F77C	F	-	2	0	ENOX1	42833567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.105000	0.64084	0.533000	0.62120	TTT		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		47	253	0	0	0	1	0	47	253					C	43935567	A	C	43935567	3	2	79	1	0	0	0	0	1	0	0	0	5144	14	1	4	1749	4	ENOX1	13	43935567	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	397332	43935567	71234311	14164	24481											
ENOX1	55068	broad.mit.edu	37	chr13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgtgggatctgtcaCggacatgttgagctgggtcg	16	9	2	1	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	42					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGATCTGTCACGGACATGTTG	0.537																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(124-126)Gtg>Atg		ecto-NOX disulfide-thiol exchanger 1		C	MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	140	119	126		124,124,124	4.8	1	13	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	21,21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign,benign	42/644,42/644,42/644	43986136	3,13003	2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986136C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.124G>A	13.37:g.43986136C>T	ENSP00000261488:p.Val42Met					ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	701	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	42					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.124G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251216	0.22880	4.54E-4	1.16E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48522	0.81;0.81	5.62	4.77	0.60923	.	0.065961	0.64402	D	0.000012	T	0.33614	0.0869	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08554	-1.0716	10	0.23302	T	0.38	0.011	14.0448	0.64698	0.0:0.9273:0.0:0.0727	.	42	Q8TC92	ENOX1_HUMAN	M	42	ENSP00000261488:V42M;ENSP00000415054:V42M	ENSP00000261488:V42M	V	-	1	0	ENOX1	42884136	0.990000	0.36364	0.994000	0.49952	0.994000	0.84299	2.711000	0.47177	1.511000	0.48818	0.467000	0.42956	GTG		0.537	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		61	237	0	0	0	1	0	61	237					T	43986136	C	T	43986136	3	4	79	1	0	0	0	0	1	0	0	0	5144	536	19	1	1859	1	ENOX1	13	43986136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50569	43986136	71183742	14165	24482											
ENOX1	55068	broad.mit.edu	37	chr13	43986165	43986165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggtcgtgtctatcGctatactccccaaaccatcg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986165G>A	ENST00000261488.6	-	5	672	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTGTCTATCGCTATACTCCC	0.488																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(94-96)gCg>gTg		ecto-NOX disulfide-thiol exchanger 1							126	110	116					13																	43986165		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986165G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.95C>T	13.37:g.43986165G>A	ENSP00000261488:p.Ala32Val					ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	672	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	32					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.95C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942219	0.53079	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47528	0.84;0.84	5.62	5.62	0.85841	.	0.131462	0.51477	D	0.000099	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.49253	0.921	B	0.32624	0.149	T	0.19549	-1.0302	10	0.44086	T	0.13	-1.7743	19.0063	0.92852	0.0:0.0:1.0:0.0	.	32	Q8TC92	ENOX1_HUMAN	V	32	ENSP00000261488:A32V;ENSP00000415054:A32V	ENSP00000261488:A32V	A	-	2	0	ENOX1	42884165	1.000000	0.71417	0.958000	0.39756	0.878000	0.50629	4.105000	0.57797	2.809000	0.96659	0.467000	0.42956	GCG		0.488	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		40	241	0	0	0	1	0	40	241					A	43986165	G	A	43986165	3	1	79	1	0	0	0	0	1	0	0	0	5144	1087	38	1	1888	1	ENOX1	13	43986165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	43986165	71183713	14166	24483											
C13orf31	144811	broad.mit.edu	37	chr13	44455438	44455438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcagcattaaggtaaTtgtacccaggcacaggaaga	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44455438T>G	ENST00000441843.1	+	2	802	c.317T>G	c.(316-318)aTt>aGt	p.I106S	CCDC122_ENST00000476570.2_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.I106S|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	106																	ATTAAGGTAATTGTACCCAGG	0.348																																						ENST00000441843.1																			0											c.(316-318)aTt>aGt		laccase (multicopper oxidoreductase) domain containing 1							64	65	64					13																	44455438		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44455438T>G	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.317T>G	13.37:g.44455438T>G	ENSP00000391747:p.Ile106Ser					LACC1_ENST00000325686.6_Missense_Mutation_p.I106S	p.I106S	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			2	802	+			106					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.317T>G	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172483	0.57584	.	.	ENSG00000179630	ENST00000441843;ENST00000425906;ENST00000325686	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.272209	0.42172	D	0.000744	T	0.52240	0.1722	M	0.66939	2.045	0.50467	D	0.999871	P	0.39216	0.664	B	0.35470	0.203	T	0.60120	-0.7325	10	0.87932	D	0	-1.1857	15.3831	0.74676	0.0:0.0:0.0:1.0	.	106	Q8IV20	LACC1_HUMAN	S	106	ENSP00000391747:I106S;ENSP00000317619:I106S	ENSP00000317619:I106S	I	+	2	0	LACC1	43353438	1.000000	0.71417	0.966000	0.40874	0.964000	0.63967	5.882000	0.69714	2.285000	0.76669	0.533000	0.62120	ATT		0.348	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		10	256	0	0	0	1	0	10	256					G	44455438	T	G	44455438	3	3	79	1	0	0	0	0	1	0	0	0	1731	1493	52	4	319	4	C13orf31	13	44455438	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	469273	44455438	70714440	14167	24484											
C13orf31	144811	broad.mit.edu	37	chr13	44464409	44464409	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatcaattaaagaatgAggtacagtaggttttctctc	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44464409A>G	ENST00000441843.1	+	6	1778	c.1293A>G	c.(1291-1293)tgA>tgG	p.*431W	LACC1_ENST00000325686.6_Splice_Site_p.*431W	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	0																	TTAAAGAATGAGGTACAGTAG	0.428																																						ENST00000441843.1																			0											c.e6+1		laccase (multicopper oxidoreductase) domain containing 1							114	112	112					13																	44464409		2203	4300	6503	SO:0001630	splice_region_variant	144811							g.chr13:44464409A>G	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1290+1A>G	13.37:g.44464409A>G						LACC1_ENST00000325686.6_Splice_Site_p.*431_splice	p.*431_splice	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			6	1778	+			0					A2A3Z6|Q8N8X5	Splice_Site	SNP	ENST00000441843.1	37	c.1290_splice	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217386	0.39201	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	W	431	.	.	X	+	3	0	LACC1	43362409	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.516000	0.67055	2.371000	0.80710	0.533000	0.62120	TGA		0.428	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218	Nonstop_Mutation	42	177	0	0	0	1	0	42	177					G	44464409	A	G	44464409	5	3	79	1	0	0	0	0	0	0	1	0	1731	318	11	4	1311	4	C13orf31	13	44464409	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8971	44464409	70705469	14168	24485											
TSC22D1	8848	broad.mit.edu	37	chr13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcattaggaacactgCtaacagcagcagaggaagaa	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	379					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGAACACTGCTAACAGCAGC	0.483																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1135-1137)aGc>aAc		TSC22 domain family, member 1							107	93	98					13																	45149075		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149075C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1136G>A	13.37:g.45149075C>T	ENSP00000397435:p.Ser379Asn					TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N	p.S379N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1626	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	379					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1136G>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.558873	0.00009	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.29917	1.55	4.61	-1.12	0.09808	.	0.285367	0.30269	N	0.010014	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	10	0.06099	T	0.92	.	7.3014	0.26422	0.0:0.153:0.1233:0.7237	.	379;379	B3KRL7;Q15714	.;T22D1_HUMAN	N	379	ENSP00000397435:S379N	ENSP00000397435:S379N	S	-	2	0	TSC22D1	44047075	0.975000	0.34042	0.309000	0.25155	0.021000	0.10359	0.637000	0.24659	-0.014000	0.14175	-1.421000	0.01109	AGC		0.483	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		64	264	0	0	0	1	0	64	264					T	45149075	C	T	45149075	3	4	79	1	0	0	0	0	1	0	0	0	16660	797	28	2	2226	2	TSC22D1	13	45149075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684666	45149075	70020803	14169	24486											
NUFIP1	26747	broad.mit.edu	37	chr13	45554055	45554055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactggacaatcttctcGtgtgcagtaaaagagcaatc	10	8	2	1	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	209					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294													G|||	3	0.000599042	0.0	0.0	5008	,	,		18075	0.0		0.001	False		,,,				2504	0.002					ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(625-627)caC>caT		nuclear fragile X mental retardation protein interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	63	65	65		627	1.7	1	13	dbSNP_134	65	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	NUFIP1	NM_012345.2		0,8,6489	AA,AG,GG		0.0815,0.0227,0.0616		209/496	45554055	8,12986	2203	4294	6497	SO:0001819	synonymous_variant	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45554055G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.627C>T	13.37:g.45554055G>A							p.H209H	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	4	673	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	209					Q8WVM5|Q96SG1	Silent	SNP	ENST00000379161.4	37	c.627C>T	CCDS9393.1																																																																																				0.294	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		21	142	0	0	0	1	0	21	142					A	45554055	G	A	45554055	2	1	79	1	0	0	0	0	0	0	0	1	10790	1136	40	1		1	NUFIP1	13	45554055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	404980	45554055	69615823	14170	24487											
KIAA1704	55425	broad.mit.edu	37	chr13	45578554	45578554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatctgaagaagatgAcagtggtccaactgcaaggt	11	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45578554A>G	ENST00000379151.4	+	2	306	c.203A>G	c.(202-204)gAc>gGc	p.D68G	GPALPP1_ENST00000357537.3_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.D68G|RN7SL49P_ENST00000581392.1_RNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	68																	GAAGAAGATGACAGTGGTCCA	0.388																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(202-204)gAc>gGc									73	71	72					13																	45578554		2203	4300	6503	SO:0001583	missense	0							g.chr13:45578554A>G	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.203A>G	13.37:g.45578554A>G	ENSP00000368447:p.Asp68Gly					RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D68G	p.D68G			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	2	238	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	68					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.203A>G	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720677	0.48728	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.61	5.61	0.85477	.	0.515740	0.22217	N	0.063012	T	0.42810	0.1219	L	0.54323	1.7	0.40437	D	0.98	P	0.43094	0.799	B	0.33339	0.162	T	0.41270	-0.9518	9	0.20046	T	0.44	-3.8457	13.1729	0.59609	1.0:0.0:0.0:0.0	.	68	Q8IXQ4	K1704_HUMAN	G	68	.	ENSP00000355211:D68G	D	+	2	0	KIAA1704	44476554	0.999000	0.42202	0.982000	0.44146	0.948000	0.59901	4.764000	0.62264	2.130000	0.65690	0.477000	0.44152	GAC		0.388	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		6	309	0	0	0	1	0	6	309					G	45578554	A	G	45578554	3	3	79	1	0	0	0	0	1	0	0	0	8282	275	10	4	209	4	KIAA1704	13	45578554	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24499	45578554	69591324	14171	24488											
SLC25A30	253512	broad.mit.edu	37	chr13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C													taccttccacagtcctcttgTcccctcttgctggtaaatgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	158					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGTCCTCTTGTCCCCTCTTGC	0.368																																						ENST00000539591.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(319-321)Aca>Gca		solute carrier family 25, member 30							278	266	270					13																	45976427		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45976427T>C	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"Solute carriers"	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.319A>G	13.37:g.45976427T>C	ENSP00000443542:p.Thr107Ala						p.T107A			Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	5	482	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	158					B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.319A>G		.	.	.	.	.	.	.	.	.	.	T	12.21	1.870535	0.33069	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.59	1.81	0.25067	Mitochondrial carrier domain (2);	0.146358	0.64402	N	0.000010	T	0.67021	0.2849	N	0.16098	0.37	0.43885	D	0.996502	P;P	0.46784	0.884;0.884	P;P	0.50537	0.643;0.643	T	0.62029	-0.6940	10	0.38643	T	0.18	-5.3928	9.0201	0.36195	0.0:0.2111:0.0:0.7889	.	158;158	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	A	158;83;107;107;83	ENSP00000429168:T158A;ENSP00000443542:T107A;ENSP00000429308:T107A;ENSP00000430687:T83A	ENSP00000429308:T107A	T	-	1	0	SLC25A30	44874427	0.996000	0.38824	0.084000	0.20598	0.983000	0.72400	2.564000	0.45931	0.145000	0.18977	0.533000	0.62120	ACA		0.368	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		47	477	0	0	0	1	0	47	477					C	45976427	T	C	45976427	3	2	79	1	0	0	0	0	1	0	0	0	14544	1667	58	4	423	4	SLC25A30	13	45976427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	397873	45976427	69193451	14172	24489	152	2									
SLC25A30	253512	broad.mit.edu	37	chr13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A													agtcctcttgtcccctcttgCtggtaaatgttcatgaagtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	154					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TCCCCTCTTGCTGGTAAATGT	0.383																																						ENST00000539591.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(307-309)caG>caT		solute carrier family 25, member 30							266	258	261					13																	45976437		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45976437C>A	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"Solute carriers"	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.309G>T	13.37:g.45976437C>A	ENSP00000443542:p.Gln103His						p.Q103H			Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	5	472	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	154					B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.309G>T		.	.	.	.	.	.	.	.	.	.	C	15.26	2.780874	0.49891	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.87	0.44632	Mitochondrial carrier domain (2);	0.054596	0.85682	D	0.000000	T	0.73140	0.3549	L	0.60455	1.87	0.42273	D	0.992066	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.69720	-0.5069	10	0.59425	D	0.04	-5.9333	10.8811	0.46939	0.0:0.7882:0.0:0.2118	.	154;154	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	H	154;79;103;103;79	ENSP00000429168:Q154H;ENSP00000443542:Q103H;ENSP00000429308:Q103H;ENSP00000430687:Q79H	ENSP00000429308:Q103H	Q	-	3	2	SLC25A30	44874437	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.711000	0.37930	0.837000	0.34925	-0.150000	0.13652	CAG		0.383	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		74	467	1	0	2.13431e-38	1	2.57195e-38	74	467					A	45976437	C	A	45976437	3	1	79	1	0	0	0	0	1	0	0	0	14544	796	28	3	433	3	SLC25A30	13	45976437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	45976437	69193441	14173	24490	152	2									
COG3	83548	broad.mit.edu	37	chr13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagatcatgtgcagaAcaatggtaaatgagtagaaa	11	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	441					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTGCAGAACAATGGTAAA	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1321-1323)aAc>aCc		component of oligomeric golgi complex 3							127	118	121					13																	46067616		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46067616A>C	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1322A>C	13.37:g.46067616A>C	ENSP00000258654:p.Asn441Thr					COG3_ENST00000465942.1_3'UTR	p.N441T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	12	1434	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	441					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1322A>C	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548562	0.65311	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.63	5.63	0.86233	.	0.045932	0.85682	D	0.000000	T	0.42063	0.1186	L	0.37561	1.115	0.58432	D	0.999997	B;D;D	0.57257	0.138;0.979;0.974	B;P;P	0.51777	0.039;0.679;0.647	T	0.16012	-1.0417	10	0.10636	T	0.68	-9.047	15.0147	0.71576	1.0:0.0:0.0:0.0	.	278;441;441	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	T	441	ENSP00000258654:N441T	ENSP00000258654:N441T	N	+	2	0	COG3	44965617	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.331000	0.96430	2.138000	0.66242	0.377000	0.23210	AAC		0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			72	305	0	0	0	1	0	72	305					C	46067616	A	C	46067616	3	2	79	1	0	0	0	0	1	0	0	0	3668	43	2	4	1368	4	COG3	13	46067616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91179	46067616	69102262	14174	24491											
SPERT	220082	broad.mit.edu	37	chr13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgaaagcctagaaattcCaatcagtgtggttctacctc	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	45						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTAGAAATTCCAATCAGTGTG	0.428																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(133-135)cCa>cTa		spermatid associated							59	59	59					13																	46276968		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276968C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.134C>T	13.37:g.46276968C>T	ENSP00000309189:p.Pro45Leu						p.P45L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	214	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	45					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.134C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693050	0.68271	.	.	ENSG00000174015	ENST00000310521	T	0.58358	0.34	4.46	4.46	0.54185	.	0.180171	0.27654	N	0.018417	T	0.61426	0.2346	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	10	0.48119	T	0.1	.	12.9338	0.58303	0.0:1.0:0.0:0.0	.	45	Q8NA61	SPERT_HUMAN	L	45	ENSP00000309189:P45L	ENSP00000309189:P45L	P	+	2	0	SPERT	45174969	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.018000	0.49625	2.753000	0.94483	0.655000	0.94253	CCA		0.428	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		36	188	0	0	0	1	0	36	188					T	46276968	C	T	46276968	3	4	79	1	0	0	0	0	1	0	0	0	15091	594	21	2	140	2	SPERT	13	46276968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209352	46276968	68892910	14175	24492											
SPERT	220082	broad.mit.edu	37	chr13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgcagaggggcacagccGaacccttcccgaggctccac	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	ENST00000310521.1	+	3	249	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPERT_ENST00000378966.3_Missense_Mutation_p.E21K	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	57						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.E57K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647																																						ENST00000378966.3																			1	Substitution - Missense(1)	p.E57K(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(61-63)Gaa>Aaa		spermatid associated							21	21	21					13																	46287329		2201	4298	6499	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287329G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.169G>A	13.37:g.46287329G>A	ENSP00000309189:p.Glu57Lys					SPERT_ENST00000310521.1_Missense_Mutation_p.E57K	p.E21K			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	477	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	57					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.61G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247467	0.59103	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.57752	0.39;0.38	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000181	T	0.63651	0.2529	L	0.40543	1.245	0.39134	D	0.961919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67601	-0.5629	10	0.87932	D	0	.	13.8953	0.63768	0.0:0.0:1.0:0.0	.	21;57	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	57;30;21	ENSP00000309189:E57K;ENSP00000368249:E21K	ENSP00000309189:E57K	E	+	1	0	SPERT	45185330	0.994000	0.37717	0.998000	0.56505	0.231000	0.25187	2.592000	0.46171	2.653000	0.90120	0.650000	0.86243	GAA		0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		45	167	0	0	0	1	0	45	167					A	46287329	G	A	46287329	3	1	79	1	0	0	0	0	1	0	0	0	15091	1059	37	1	179	1	SPERT	13	46287329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10361	46287329	68882549	14176	24493											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	392						7	392	---	---	---	---	-	46542017	CT	-	46542016	7	5	79	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-IB-7651-01A-11D-2154-08	254687	46542016	68627862	14177	24494											
ZC3H13	23091	broad.mit.edu	37	chr13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgcattggagagcgatGtcttggaggactctgctttc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	391	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGAGCGATGTCTTGGAGGA	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1171-1173)Cat>Tat		zinc finger CCCH-type containing 13							149	129	136					13																	46563006		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563006G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1171C>T	13.37:g.46563006G>A	ENSP00000242848:p.His391Tyr					ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y	p.H391Y			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1519	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	391			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1171C>T		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959377	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35421	2.27;1.31	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.50240	0.1604	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.62955	0.813;0.909	T	0.48068	-0.9067	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	391;391	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	391;391;207	ENSP00000242848:H391Y;ENSP00000282007:H391Y	ENSP00000242848:H391Y	H	-	1	0	ZC3H13	45461007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.859000	0.86982	2.738000	0.93877	0.655000	0.94253	CAT		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		52	194	0	0	0	1	0	52	194					A	46563006	G	A	46563006	3	1	79	1	0	0	0	0	1	0	0	0	17618	1377	48	2	3559	2	ZC3H13	13	46563006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20990	46563006	68606872	14178	24495											
CPB2	1361	broad.mit.edu	37	chr13	46679085	46679085	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggttacctctgaaacgcgaaGacatgctgctcacagaagag	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46679085G>A	ENST00000181383.4	-	1	76	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Silent_p.V20V	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	20					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAACGCGAAGACATGCTGCT	0.468																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(58-60)gtC>gtT		carboxypeptidase B2 (plasma)							129	115	120					13																	46679085		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46679085G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.60C>T	13.37:g.46679085G>A						CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	p.V20V	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	1	76	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	20					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.60C>T	CCDS9401.1																																																																																				0.468	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		11	255	0	0	0	1	0	11	255					A	46679085	G	A	46679085	2	1	79	1	0	0	0	0	0	0	0	1	3806	929	33	2		2	CPB2	13	46679085	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116079	46679085	68490793	14179	24496											
LCP1	3936	broad.mit.edu	37	chr13	46704966	46704966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactttgcattgttgagtttCtcatcatcattcagattttc	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000323076.2_Silent_p.E578E|LCP1_ENST00000435666.2_Silent_p.E147E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	578	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1732-1734)gaG>gaA		lymphocyte cytosolic protein 1 (L-plastin)							199	191	194					13																	46704966		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46704966C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1734G>A	13.37:g.46704966C>T						LCP1_ENST00000323076.2_Silent_p.E578E|LCP1_ENST00000435666.2_Silent_p.E147E	p.E578E			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	18	2122	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	578			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1734G>A	CCDS9403.1																																																																																				0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		80	401	0	0	0	1	0	80	401					T	46704966	C	T	46704966	2	4	79	1	0	0	0	0	0	0	0	1	8722	912	32	2		2	LCP1	13	46704966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25881	46704966	68464912	14180	24497											
LCP1	3936	broad.mit.edu	37	chr13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttccccaattctaccgCgtagttacaattctcaagct	4	13	3	0	rs541702713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000323076.2_Missense_Mutation_p.A463T|LCP1_ENST00000435666.2_Missense_Mutation_p.A32T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	463	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388			T	BCL6	NHL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17376	0.0		0.0	False		,,,				2504	0.0					ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1387-1389)Gcg>Acg		lymphocyte cytosolic protein 1 (L-plastin)							129	109	116					13																	46716542		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46716542C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1387G>A	13.37:g.46716542C>T	ENSP00000381581:p.Ala463Thr					LCP1_ENST00000323076.2_Missense_Mutation_p.A463T|LCP1_ENST00000435666.2_Missense_Mutation_p.A32T	p.A463T			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	16	1775	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	463			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1387G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392492	0.83011	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97089	-4.24;-4.24;-4.24	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.903;1.0	D	0.98678	1.0691	10	0.45353	T	0.12	-15.0268	18.6878	0.91571	0.0:1.0:0.0:0.0	.	32;463	B4DUA0;P13796	.;PLSL_HUMAN	T	463;463;32	ENSP00000315757:A463T;ENSP00000381581:A463T;ENSP00000405134:A32T	ENSP00000315757:A463T	A	-	1	0	LCP1	45614543	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	GCG		0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		84	322	0	0	0	1	0	84	322					T	46716542	C	T	46716542	3	4	79	1	0	0	0	0	1	0	0	0	8722	768	27	1	512	1	LCP1	13	46716542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11576	46716542	68453336	14181	24498											
LCP1	3936	broad.mit.edu	37	chr13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcattaaagagatcattcGtgtttgggttcattgggatg	12	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000323076.2_Missense_Mutation_p.T150M|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	150	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(448-450)aCg>aTg		lymphocyte cytosolic protein 1 (L-plastin)							251	239	243					13																	46730615		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730615G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.449C>T	13.37:g.46730615G>A	ENSP00000381581:p.Thr150Met					LCP1_ENST00000323076.2_Missense_Mutation_p.T150M	p.T150M			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	837	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	150			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.449C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681947	0.47991	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95788	-3.81;-3.81;-3.81	5.61	5.61	0.85477	Calponin homology domain (5);	0.043588	0.85682	D	0.000000	D	0.94509	0.8232	M	0.76170	2.325	0.80722	D	1	P	0.40638	0.725	B	0.34301	0.179	D	0.94563	0.7764	10	0.52906	T	0.07	-18.0852	18.9874	0.92777	0.0:0.0:1.0:0.0	.	150	P13796	PLSL_HUMAN	M	150	ENSP00000315757:T150M;ENSP00000381581:T150M;ENSP00000408052:T150M	ENSP00000315757:T150M	T	-	2	0	LCP1	45628616	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.691000	0.54720	2.813000	0.96785	0.655000	0.94253	ACG		0.393	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		119	739	0	0	0	1	0	119	739					A	46730615	G	A	46730615	3	1	79	1	0	0	0	0	1	0	0	0	8722	1145	40	1	1482	1	LCP1	13	46730615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14073	46730615	68439263	14182	24499											
LCP1	3936	broad.mit.edu	37	chr13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggacactgatcctctgGccattttttattgctttagg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	2					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(4-6)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							138	121	127					13																	46733793		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733793G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.5C>T	13.37:g.46733793G>A	ENSP00000381581:p.Ala2Val					LCP1_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR	p.A2V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	393	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	2					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.5C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012336	0.75046	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.74421	-0.84;-0.84;0.29;-0.03	5.13	5.13	0.70059	.	0.109676	0.64402	D	0.000011	T	0.66694	0.2815	L	0.35723	1.085	0.80722	D	1	B	0.32573	0.376	B	0.30646	0.118	T	0.70114	-0.4961	10	0.72032	D	0.01	-15.4324	16.1014	0.81175	0.0:0.0:1.0:0.0	.	2	P13796	PLSL_HUMAN	V	2	ENSP00000315757:A2V;ENSP00000381581:A2V;ENSP00000408052:A2V;ENSP00000402157:A2V	ENSP00000315757:A2V	A	-	2	0	LCP1	45631794	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.708000	0.61859	2.532000	0.85374	0.655000	0.94253	GCC		0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		47	229	0	0	0	1	0	47	229					A	46733793	G	A	46733793	3	1	79	1	0	0	0	0	1	0	0	0	8722	1203	42	2	1938	2	LCP1	13	46733793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3178	46733793	68436085	14183	24500											
C13orf18	80183	broad.mit.edu	37	chr13	46946460	46946460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggttaatccagacagCtttgtgcctcatgagcctga	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46946460C>T	ENST00000429979.1	-	3	755	c.151G>A	c.(151-153)Gct>Act	p.A51T	KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000480935.1_Intron|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A51T|KIAA0226L_ENST00000409879.2_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	51										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATCCAGACAGCTTTGTGCCTC	0.532																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(151-153)Gct>Act		KIAA0226-like							91	78	82					13																	46946460		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946460C>T	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.151G>A	13.37:g.46946460C>T	ENSP00000396935:p.Ala51Thr					KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A51T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron	p.A51T	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	755	-			51					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.151G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330409	0.60743	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T	0.68025	-0.14;0.26;0.15;0.26;0.15;-0.3	5.57	4.72	0.59763	.	0.000000	0.56097	D	0.000029	T	0.76615	0.4012	L	0.54323	1.7	0.28880	N	0.894451	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.976;0.989	T	0.72839	-0.4171	10	0.87932	D	0	-2.8447	11.757	0.51880	0.1762:0.8238:0.0:0.0	.	51;51;51	Q9H714-1;Q9H714;Q9H714-4	.;K226L_HUMAN;.	T	51	ENSP00000368057:A51T;ENSP00000396935:A51T;ENSP00000368074:A51T;ENSP00000374558:A51T;ENSP00000368064:A51T;ENSP00000414579:A51T	ENSP00000368057:A51T	A	-	1	0	KIAA0226L	45844461	0.943000	0.32029	0.388000	0.26195	0.220000	0.24768	3.399000	0.52586	1.338000	0.45544	0.655000	0.94253	GCT		0.532	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		36	168	0	0	0	1	0	36	168					T	46946460	C	T	46946460	3	4	79	1	0	0	0	0	1	0	0	0	1725	797	28	2	1889	2	C13orf18	13	46946460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212667	46946460	68223418	14184	24501											
LRCH1	23143	broad.mit.edu	37	chr13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaggatgtcagctgcaacGagatcacagcgttgccccag	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000389798.3	+	4	792	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGCAACGAGATCACAGC	0.368																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 1							70	69	70					13																	47255891		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47255891G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.595G>A	13.37:g.47255891G>A	ENSP00000374448:p.Glu199Lys					LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K|LRCH1_ENST00000389798.3_Missense_Mutation_p.E199K	p.E199K	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	4	824	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	199					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.595G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.591442	0.86851	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56444	0.46;0.46;0.46	5.58	5.58	0.84498	.	0.182364	0.49916	D	0.000131	T	0.44222	0.1283	N	0.04203	-0.255	0.58432	D	0.999997	P;D;P;B	0.64830	0.934;0.994;0.919;0.372	B;P;B;B	0.50970	0.446;0.655;0.318;0.168	T	0.56763	-0.7925	10	0.62326	D	0.03	-12.7124	18.6246	0.91333	0.0:0.0:1.0:0.0	.	199;199;199;199	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	199	ENSP00000308493:E199K;ENSP00000374448:E199K;ENSP00000374447:E199K	ENSP00000308493:E199K	E	+	1	0	LRCH1	46153892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.167000	0.94773	2.645000	0.89757	0.538000	0.68166	GAG		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		31	163	0	0	0	1	0	31	163					A	47255891	G	A	47255891	3	1	79	1	0	0	0	0	1	0	0	0	8970	1059	37	1	609	1	LRCH1	13	47255891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309431	47255891	67913987	14185	24502											
LRCH1	23143	broad.mit.edu	37	chr13	47262061	47262061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattaagacagctgactcCctttatctccacaccatgga	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000389798.3	+	6	1094	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000311191.6_Silent_p.S299S|LRCH1_ENST00000389797.3_Silent_p.S299S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	299										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGACTCCCTTTATCTCC	0.423																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(895-897)tcC>tcT		leucine-rich repeats and calponin homology (CH) domain containing 1							92	92	92					13																	47262061		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47262061C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.897C>T	13.37:g.47262061C>T						LRCH1_ENST00000389797.3_Silent_p.S299S|LRCH1_ENST00000389798.3_Silent_p.S299S	p.S299S	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1126	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	299					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.897C>T	CCDS31972.1																																																																																				0.423	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		49	278	0	0	0	1	0	49	278					T	47262061	C	T	47262061	2	4	79	1	0	0	0	0	0	0	0	1	8970	610	22	2		2	LRCH1	13	47262061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6170	47262061	67907817	14186	24503											
LRCH1	23143	broad.mit.edu	37	chr13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcatcaggaatttcaacCggagccttcccttttgggtg	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000389798.3	+	9	1342	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L|LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	382										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAATTTCAACCGGAGCCTTCC	0.398																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1144-1146)cCg>cTg		leucine-rich repeats and calponin homology (CH) domain containing 1							79	83	82					13																	47269052		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47269052C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1145C>T	13.37:g.47269052C>T	ENSP00000374448:p.Pro382Leu					LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L|LRCH1_ENST00000389798.3_Missense_Mutation_p.P382L	p.P382L	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	9	1374	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	382					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1145C>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289009	0.10513	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54071	0.59;0.64;0.63	5.68	3.78	0.43462	.	0.343441	0.24793	N	0.035544	T	0.32285	0.0824	L	0.36672	1.1	0.39613	D	0.969908	P;B;P;P	0.49635	0.878;0.139;0.926;0.878	B;B;B;B	0.37888	0.133;0.011;0.26;0.091	T	0.15752	-1.0426	10	0.12430	T	0.62	-3.5177	5.8134	0.18479	0.2344:0.6677:0.0:0.0979	.	382;382;382;382	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	382	ENSP00000308493:P382L;ENSP00000374448:P382L;ENSP00000374447:P382L	ENSP00000308493:P382L	P	+	2	0	LRCH1	46167053	0.003000	0.15002	0.908000	0.35775	0.896000	0.52359	0.603000	0.24149	1.407000	0.46875	-0.145000	0.13849	CCG		0.398	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		72	347	0	0	0	1	0	72	347					T	47269052	C	T	47269052	3	4	79	1	0	0	0	0	1	0	0	0	8970	652	23	1	1179	1	LRCH1	13	47269052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6991	47269052	67900826	14187	24504											
LRCH1	23143	broad.mit.edu	37	chr13	47297373	47297373	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtttctaagacctcagAgaaatttggaatctatagac	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000389798.3	+	16	1869	c.1672A>C	c.(1672-1674)Aga>Cga	p.R558R	LRCH1_ENST00000311191.6_Silent_p.R558R|LRCH1_ENST00000389797.3_Silent_p.R593R	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	558										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGACCTCAGAGAAATTTGGA	0.383																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1672-1674)Aga>Cga		leucine-rich repeats and calponin homology (CH) domain containing 1							82	85	84					13																	47297373		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47297373A>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1672A>C	13.37:g.47297373A>C						LRCH1_ENST00000389797.3_Silent_p.R593R|LRCH1_ENST00000389798.3_Silent_p.R558R	p.R558R	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	16	1901	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	558					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.1672A>C	CCDS31972.1																																																																																				0.383	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		33	237	0	0	0	1	0	33	237					C	47297373	A	C	47297373	2	2	79	1	0	0	0	0	0	0	0	1	8970	296	11	4		4	LRCH1	13	47297373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28321	47297373	67872505	14188	24505											
ESD	2098	broad.mit.edu	37	chr13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgcattcaggtatttaGcatgatgtctgatgtggtca	10	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	277					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(829-831)gCt>gAt		esterase D	Glutathione(DB00143)						160	161	161					13																	47345570		2203	4293	6496	SO:0001583	missense	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47345570G>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.830C>A	13.37:g.47345570G>T	ENSP00000367992:p.Ala277Asp					ESD_ENST00000378697.1_Missense_Mutation_p.A248D	p.A277D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	10	1012	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	277					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	c.830C>A	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691844	0.88735	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	.	0.053187	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94698	3.57	0.80722	D	1	P	0.52842	0.956	D	0.72075	0.976	T	0.74714	-0.3572	10	0.87932	D	0	-14.6698	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	277	P10768	ESTD_HUMAN	D	277;248	ENSP00000367992:A277D;ENSP00000367969:A248D	ENSP00000367969:A248D	A	-	2	0	ESD	46243571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCT		0.308	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			52	390	1	0	1.56989e-16	1	1.72551e-16	52	390					T	47345570	G	T	47345570	3	4	79	1	0	0	0	0	1	0	0	0	5268	971	34	3	22	3	ESD	13	47345570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48197	47345570	67824308	14189	24506											
HTR2A	3356	broad.mit.edu	37	chr13	47409298	47409298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccgatccaaacaaacaCattgagcagggccccaatga	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47409298C>T	ENST00000378688.4	-	3	1221	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	364					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAAACAAACACATTGAGCAGG	0.468																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1090-1092)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						111	104	106					13																	47409298		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409298C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1090G>A	13.37:g.47409298C>T	ENSP00000367959:p.Val364Met					HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M|HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M	p.V364M			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1221	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	364					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.1090G>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490649	0.44249	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.40756	1.02;1.02;1.02	5.65	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.144833	0.48286	D	0.000182	T	0.61689	0.2367	M	0.81112	2.525	0.46823	D	0.999214	D;D	0.53885	0.957;0.963	P;D	0.64877	0.753;0.93	T	0.64740	-0.6336	10	0.87932	D	0	.	9.9077	0.41386	0.0:0.8599:0.0:0.1401	.	280;364	F5GWE8;P28223	.;5HT2A_HUMAN	M	364;280;364	ENSP00000367959:V364M;ENSP00000441861:V280M;ENSP00000437737:V364M	ENSP00000367959:V364M	V	-	1	0	HTR2A	46307299	0.731000	0.28111	0.995000	0.50966	0.566000	0.35808	1.463000	0.35277	2.827000	0.97445	0.650000	0.86243	GTG		0.468	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		10	370	0	0	0	1	0	10	370					T	47409298	C	T	47409298	3	4	79	1	0	0	0	0	1	0	0	0	7471	478	17	2	329	2	HTR2A	13	47409298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63728	47409298	67760580	14190	24507											
SUCLA2	8803	broad.mit.edu	37	chr13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctgggtccagtcCtgtagatcaaagattttctt	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	292					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(874-876)caG>caT		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						88	86	87					13																	48528619		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48528619C>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.876G>T	13.37:g.48528619C>A	ENSP00000367923:p.Gln292His					SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H	p.Q292H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	7	932	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	292					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.876G>T	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.779577	0.31502	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.67	1.94	0.25998	ATP-grasp fold, subdomain 2 (1);	0.183522	0.51477	D	0.000096	T	0.47173	0.1431	N	0.19112	0.55	0.41963	D	0.990719	B	0.15141	0.012	B	0.19148	0.024	T	0.33394	-0.9870	10	0.51188	T	0.08	0.7528	7.3261	0.26555	0.1155:0.6275:0.0:0.257	.	292	Q9P2R7	SUCB1_HUMAN	H	292;270;222;144;158;234;234;120;222;144	ENSP00000367923:Q292H;ENSP00000443412:Q158H;ENSP00000438182:Q234H;ENSP00000441056:Q234H;ENSP00000392771:Q222H;ENSP00000415091:Q144H	ENSP00000367898:Q144H	Q	-	3	2	SUCLA2	47426620	0.999000	0.42202	0.909000	0.35828	0.983000	0.72400	0.716000	0.25836	0.413000	0.25759	-0.143000	0.13931	CAG		0.403	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			102	371	1	0	2.68873e-43	1	3.28104e-43	102	371					A	48528619	C	A	48528619	3	1	79	1	0	0	0	0	1	0	0	0	15415	680	24	3	535	3	SUCLA2	13	48528619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1119321	48528619	66641259	14191	24508											
ITM2B	9445	broad.mit.edu	37	chr13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttagatcttaacctggAtaagtgctatgtgatccctc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378565.5	+	4	688	c.485A>C	c.(484-486)gAt>gCt	p.D162A	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	162	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTAACCTGGATAAGTGCTAT	0.368																																						ENST00000378565.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(484-486)gAt>gCt		integral membrane protein 2B							161	147	152					13																	48832293		2203	4300	6503	SO:0001583	missense	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48832293A>C	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.485A>C	13.37:g.48832293A>C	ENSP00000367828:p.Asp162Ala					ITM2B_ENST00000378549.5_Intron	p.D162A	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	4	688	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	162			BRICHOS.		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	c.485A>C	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897934	0.91962	.	.	ENSG00000136156	ENST00000378565	T	0.78924	-1.22	5.84	5.84	0.93424	BRICHOS (2);	0.187411	0.56097	D	0.000029	D	0.84243	0.5429	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.84274	0.0490	10	0.45353	T	0.12	-7.6342	15.4071	0.74887	1.0:0.0:0.0:0.0	.	162	Q9Y287	ITM2B_HUMAN	A	162	ENSP00000367828:D162A	ENSP00000367828:D162A	D	+	2	0	ITM2B	47730294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.285000	0.65633	2.230000	0.72887	0.528000	0.53228	GAT		0.368	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		66	405	0	0	0	1	0	66	405					C	48832293	A	C	48832293	3	2	79	1	0	0	0	0	1	0	0	0	7943	333	12	4	499	4	ITM2B	13	48832293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	303674	48832293	66337585	14192	24509											
RB1	5925	broad.mit.edu	37	chr13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcacttttactgagctacaGaaaaacatagaaatcaggta	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	121					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTGAGCTACAGAAAAACATAG	0.348		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		20	Whole gene deletion(15)|Unknown(5)	p.0?(15)|p.?(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(361-363)caG>caT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78	85	82					13																	48916833		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916833G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.363G>T	13.37:g.48916833G>T	ENSP00000267163:p.Gln121His	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q121H	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	501	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	121					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.363G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561901	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.73575	-0.76	5.39	3.65	0.41850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.149165	0.47093	D	0.000243	T	0.73969	0.3655	L	0.36672	1.1	0.32600	N	0.52605	D	0.57571	0.98	P	0.57425	0.82	T	0.78432	-0.2206	10	0.72032	D	0.01	.	8.6149	0.33826	0.1784:0.0:0.8216:0.0	.	121	P06400	RB_HUMAN	H	100;121	ENSP00000267163:Q121H	ENSP00000267163:Q121H	Q	+	3	2	RB1	47814834	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.421000	0.44688	0.745000	0.32763	0.603000	0.83216	CAG		0.348	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			17	259	1	0	6.94344e-10	1	7.33246e-10	17	259					T	48916833	G	T	48916833	3	4	79	1	0	0	0	0	1	0	0	0	13148	933	33	3	373	3	RB1	13	48916833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84540	48916833	66253045	14193	24510											
RB1	5925	broad.mit.edu	37	chr13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacagatttgtctttcCcatggattctgaatgtgctt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	515	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGTCTTTCCCATGGATTCT	0.303		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1543-1545)Cca>Aca		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						47	46	46					13																	48955427		2202	4300	6502	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955427C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1543C>A	13.37:g.48955427C>A	ENSP00000267163:p.Pro515Thr	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P515T	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1681	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	515			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1543C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454404	0.84209	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96073	-3.9	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	515	P06400	RB_HUMAN	T	494;515	ENSP00000267163:P515T	ENSP00000267163:P515T	P	+	1	0	RB1	47853428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.488000	0.83962	0.650000	0.86243	CCA		0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			16	85	1	0	2.35188e-11	1	2.50879e-11	16	85					A	48955427	C	A	48955427	3	1	79	1	0	0	0	0	1	0	0	0	13148	623	22	3	1609	3	RB1	13	48955427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38594	48955427	66214451	14194	24511											
LPAR6	10161	broad.mit.edu	37	chr13	48986181	48986181	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcatttcttttggttcttaGagtctttgacttaaatgggt	9	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	ENST00000378434.4	-	7	2003	c.379C>A	c.(379-381)Cta>Ata	p.L127I	LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGGTTCTTAGAGTCTTTGAC	0.418																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(379-381)Cta>Ata		lysophosphatidic acid receptor 6							38	39	39					13																	48986181		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986181G>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.379C>A	13.37:g.48986181G>T	ENSP00000367691:p.Leu127Ile					LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I|RB1_ENST00000267163.4_Intron	p.L127I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	2003	-			127					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.379C>A	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189123	0.21954	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.71698	-0.59;-0.59	6.06	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.232564	0.35585	N	0.003120	T	0.49389	0.1554	N	0.16130	0.375	0.39018	D	0.95969	B	0.09022	0.002	B	0.15870	0.014	T	0.44267	-0.9339	10	0.22109	T	0.4	.	8.3214	0.32132	0.0702:0.0:0.5526:0.3772	.	127	P43657	LPAR6_HUMAN	I	127	ENSP00000367691:L127I;ENSP00000344353:L127I	ENSP00000344353:L127I	L	-	1	2	LPAR6	47884182	0.960000	0.32886	1.000000	0.80357	0.999000	0.98932	1.609000	0.36858	1.547000	0.49401	0.655000	0.94253	CTA		0.418	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		9	110	1	0	2.17888e-05	1	2.22852e-05	9	110					T	48986181	G	T	48986181	3	4	79	1	0	0	0	0	1	0	0	0	8947	933	33	3	659	3	LPAR6	13	48986181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30754	48986181	66183697	14195	24512											
RB1	5925	broad.mit.edu	37	chr13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaacacgaatgcaaaAgcagaaaatgaatgatagca	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	913	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGAATGCAAAAGCAGAAAATG	0.418		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2737-2739)aAg>aGg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						158	135	143					13																	49054158		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49054158A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2738A>G	13.37:g.49054158A>G	ENSP00000267163:p.Lys913Arg	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_ENST00000484879.1_3'UTR	p.K913R	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	27	2876	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	913			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2738A>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300929	0.81136	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.81247	-1.47	6.06	6.06	0.98353	Rb C-terminal (1);	0.054730	0.64402	D	0.000001	D	0.82486	0.5047	L	0.40543	1.245	0.41921	D	0.990516	P	0.50528	0.936	P	0.53266	0.722	D	0.84188	0.0443	10	0.62326	D	0.03	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	913	P06400	RB_HUMAN	R	892;913	ENSP00000267163:K913R	ENSP00000267163:K913R	K	+	2	0	RB1	47952159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.315000	0.78130	0.533000	0.62120	AAG		0.418	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			32	147	0	0	0	1	0	32	147					G	49054158	A	G	49054158	3	3	79	1	0	0	0	0	1	0	0	0	13148	72	3	4	2844	4	RB1	13	49054158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67977	49054158	66115720	14196	24513											
RCBTB2	1102	broad.mit.edu	37	chr13	49064315	49064315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagatcatggtccatttCtgcaaaacctgatgtttgtg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49064315C>T	ENST00000344532.3	-	15	2011	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	530					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGGTCCATTTCTGCAAAACCT	0.383																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1588-1590)Gaa>Aaa		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							149	136	140					13																	49064315		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49064315C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1588G>A	13.37:g.49064315C>T	ENSP00000345144:p.Glu530Lys					RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K	p.E530K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	15	2011	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	530					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1588G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211695	0.22289	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74632	0.03;0.04;-0.86	5.87	5.87	0.94306	.	0.043874	0.85682	D	0.000000	T	0.46483	0.1395	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.32573	0.004;0.0;0.376;0.0	B;B;B;B	0.30401	0.01;0.002;0.115;0.001	T	0.59005	-0.7535	10	0.02654	T	1	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	256;535;482;530	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	530;482;535;535;256	ENSP00000345144:E530K;ENSP00000389910:E535K;ENSP00000443862:E256K	ENSP00000345144:E530K	E	-	1	0	RCBTB2	47962316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.587000	0.60991	2.778000	0.95560	0.655000	0.94253	GAA		0.383	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		10	310	0	0	0	1	0	10	310					T	49064315	C	T	49064315	3	4	79	1	0	0	0	0	1	0	0	0	13222	922	32	2	71	2	RCBTB2	13	49064315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10157	49064315	66105563	14197	24514											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattatgtcttattccttgTatgtcaacatgtacagcagt	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	119					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(355-357)Tat>Cat		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						182	176	178					13																	49281308		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281308T>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.355T>C	13.37:g.49281308T>C	ENSP00000282018:p.Tyr119His						p.Y119H	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	358	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	119					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.355T>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877179	0.72294	.	.	ENSG00000152207	ENST00000282018	T	0.73363	-0.74	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.85801	0.5781	M	0.75085	2.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.86089	0.1549	10	0.49607	T	0.09	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	119	Q9NS75	CLTR2_HUMAN	H	119	ENSP00000282018:Y119H	ENSP00000282018:Y119H	Y	+	1	0	CYSLTR2	48179309	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.262000	0.72514	2.333000	0.79357	0.533000	0.62120	TAT		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			71	480	0	0	0	1	0	71	480					C	49281308	T	C	49281308	3	2	79	1	0	0	0	0	1	0	0	0	4213	1638	57	4	357	4	CYSLTR2	13	49281308	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216993	49281308	65888570	14198	24515											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281382	49281382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggcaatggttcacccCtttcggcttctgcatgtcac	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(427-429)ccC>ccT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						206	197	200					13																	49281382		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281382C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.429C>T	13.37:g.49281382C>T							p.P143P	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	432	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	143					Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.429C>T	CCDS9412.1																																																																																				0.478	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			18	668	0	0	0	1	0	18	668					T	49281382	C	T	49281382	2	4	79	1	0	0	0	0	0	0	0	1	4213	668	24	2		2	CYSLTR2	13	49281382	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	49281382	65888496	14199	24516											
FNDC3A	22862	broad.mit.edu	37	chr13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactttaaatgatctcaagcCagccatggattaccatgcaa	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GATCTCAAGCCAGCCATGGAT	0.303																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1015-1017)cCa>cAa		fibronectin type III domain containing 3A							66	67	67					13																	49741418		2203	4294	6497	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49741418C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1016C>A	13.37:g.49741418C>A	ENSP00000417257:p.Pro339Gln					FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q	p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	9	1321	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	339			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1016C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394644	0.83011	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.68624	-0.34;-0.34;-0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.83649	0.5300	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.85438	0.1153	10	0.49607	T	0.09	-19.1357	15.8768	0.79170	0.0:1.0:0.0:0.0	.	283;339;339	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	339;275;339;283	ENSP00000417257:P339Q;ENSP00000441831:P339Q;ENSP00000381362:P283Q	ENSP00000338579:P275Q	P	+	2	0	FNDC3A	48639419	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.625000	0.74248	2.427000	0.82271	0.557000	0.71058	CCA		0.303	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		31	311	1	0	6.90743e-12	1	7.39364e-12	31	311					A	49741418	C	A	49741418	3	1	79	1	0	0	0	0	1	0	0	0	5994	594	21	3	1057	3	FNDC3A	13	49741418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460036	49741418	65428460	14200	24517											
FNDC3A	22862	broad.mit.edu	37	chr13	49762718	49762718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatcgactgaatccaggCtgtttctatcgtttacgagt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	631	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGAATCCAGGCTGTTTCTATC	0.393																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1891-1893)ggC>ggT		fibronectin type III domain containing 3A							351	311	325					13																	49762718		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49762718C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1893C>T	13.37:g.49762718C>T						FNDC3A_ENST00000541916.1_Silent_p.G631G|FNDC3A_ENST00000398316.3_Silent_p.G575G	p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	17	2198	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	631			Fibronectin type-III 4.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.1893C>T	CCDS41886.1																																																																																				0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		30	1095	0	0	0	1	0	30	1095					T	49762718	C	T	49762718	2	4	79	1	0	0	0	0	0	0	0	1	5994	784	28	2		2	FNDC3A	13	49762718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21300	49762718	65407160	14201	24518											
FNDC3A	22862	broad.mit.edu	37	chr13	49772216	49772216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcttcaagaaataagCgatgatgagatagaaaatcc	8	7	2	4	rs376708332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGAAATAAGCGATGATGAGA	0.468																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2587-2589)agC>agT		fibronectin type III domain containing 3A		C	,	0,4406		0,0,2203	126	117	120		2589,2421	2	1	13		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	863/1199,807/1143	49772216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49772216C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2589C>T	13.37:g.49772216C>T						FNDC3A_ENST00000541916.1_Silent_p.S863S|FNDC3A_ENST00000398316.3_Silent_p.S807S	p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	2894	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	863			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.2589C>T	CCDS41886.1																																																																																				0.468	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		79	432	0	0	0	1	0	79	432					T	49772216	C	T	49772216	2	4	79	1	0	0	0	0	0	0	0	1	5994	767	27	1		1	FNDC3A	13	49772216	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9498	49772216	65397662	14202	24519											
MLNR	2862	broad.mit.edu	37	chr13	49794908	49794908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgccgcccgctccgCgcccgcgtcttggtcacccg	11	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	ENST00000218721.1	+	1	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R	MLNR_ENST00000398307.1_Silent_p.R145R	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	145					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGCTCCGCGCCCGCGTCT	0.721																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(433-435)cgC>cgT		motilin receptor							7	7	7					13																	49794908		2147	4158	6305	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49794908C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.435C>T	13.37:g.49794908C>T						MLNR_ENST00000218721.1_Silent_p.R145R	p.R145R			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	435	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	145						Silent	SNP	ENST00000218721.1	37	c.435C>T	CCDS9414.1																																																																																				0.721	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		4	46	0	0	0	1	0	4	46					T	49794908	C	T	49794908	2	4	79	1	0	0	0	0	0	0	0	1	9673	755	27	1		1	MLNR	13	49794908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22692	49794908	65374970	14203	24520											
MLNR	2862	broad.mit.edu	37	chr13	49796490	49796490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctacaccgagacaagcGctaacgtgaagacgatggga	14	9	0	3	rs200236330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	ENST00000218721.1	+	2	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	406					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGAGACAAGCGCTAACGTGAA	0.557																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1216-1218)Gct>Act		motilin receptor		G	THR/ALA	0,4406		0,0,2203	47	49	48		1216	-6	0	13		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLNR	NM_001507.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	406/413	49796490	1,13005	2203	4300	6503	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796490G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1216G>A	13.37:g.49796490G>A	ENSP00000218721:p.Ala406Thr					MLNR_ENST00000398307.1_3'UTR	p.A406T	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1216	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	406						Missense_Mutation	SNP	ENST00000218721.1	37	c.1216G>A	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604985	0.28623	0.0	1.16E-4	ENSG00000102539	ENST00000218721	T	0.69561	-0.41	5.21	-6.04	0.02178	.	1.018280	0.07867	N	0.967326	T	0.39489	0.1080	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.22277	-1.0221	10	0.16896	T	0.51	.	1.2048	0.01893	0.3972:0.0967:0.2118:0.2943	.	406	O43193	MTLR_HUMAN	T	406	ENSP00000218721:A406T	ENSP00000218721:A406T	A	+	1	0	MLNR	48694491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.993000	0.03720	-1.521000	0.01771	-0.145000	0.13849	GCT		0.557	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		22	123	0	0	0	1	0	22	123					A	49796490	G	A	49796490	3	1	79	1	0	0	0	0	1	0	0	0	9673	1087	38	1	1222	1	MLNR	13	49796490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	49796490	65373388	14204	24521											
CDADC1	81602	broad.mit.edu	37	chr13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaaagttagatgccaaAgcagtggaaagattgaagtc	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	175							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAGATGCCAAAGCAGTGGAAA	0.433																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(523-525)aaA>aaC		cytidine and dCMP deaminase domain containing 1							114	108	110					13																	49841720		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49841720A>C	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.525A>C	13.37:g.49841720A>C	ENSP00000251108:p.Lys175Asn					CDADC1_ENST00000444959.1_5'UTR	p.K175N	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	5	638	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	175					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.525A>C	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670556	0.67814	.	.	ENSG00000102543	ENST00000251108	.	.	.	5.53	5.53	0.82687	Cytidine deaminase-like (1);	0.222920	0.49305	D	0.000154	T	0.60728	0.2291	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.798	T	0.65990	-0.6034	9	0.87932	D	0	-24.7287	15.1388	0.72595	1.0:0.0:0.0:0.0	.	175;175	Q9BWV3;B2R742	CDAC1_HUMAN;.	N	175	.	ENSP00000251108:K175N	K	+	3	2	CDADC1	48739721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.576000	0.46033	2.219000	0.72066	0.533000	0.62120	AAA		0.433	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		41	329	0	0	0	1	0	41	329					C	49841720	A	C	49841720	3	2	79	1	0	0	0	0	1	0	0	0	3062	69	3	4	543	4	CDADC1	13	49841720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45230	49841720	65328158	14205	24522											
CDADC1	81602	broad.mit.edu	37	chr13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagatacatcatacatgCggaacagaatgccttgacat	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.A399E(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353																																						ENST00000251108.6																			1	Substitution - Missense(1)	p.A399E(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1195-1197)gCg>gTg		cytidine and dCMP deaminase domain containing 1							235	205	215					13																	49852631		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49852631C>T	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1196C>T	13.37:g.49852631C>T	ENSP00000251108:p.Ala399Val					CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	p.A399V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	7	1309	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	399					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.1196C>T	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681073	0.88542	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74737	-0.87;-0.87	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	H	0.96333	3.805	0.54753	D	0.999986	D	0.63880	0.993	P	0.58172	0.834	D	0.91630	0.5318	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	V	399;201	ENSP00000251108:A399V;ENSP00000407226:A201V	ENSP00000251108:A399V	A	+	2	0	CDADC1	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG		0.353	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		105	539	0	0	0	1	0	105	539					T	49852631	C	T	49852631	3	4	79	1	0	0	0	0	1	0	0	0	3062	768	27	1	1222	1	CDADC1	13	49852631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10911	49852631	65317247	14206	24523											
PHF11	51131	broad.mit.edu	37	chr13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatagctgctcatgagaaTtgtttggtaagttacttgaa	9	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000378319.3	+	2	251	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_ENST00000357596.3_Missense_Mutation_p.N31K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|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;2.38e-09)		CTCATGAGAATTGTTTGGTAA	0.343																																						ENST00000357596.3																			0				large_intestine(3)|lung(1)	4						c.(91-93)aaT>aaG		PHD finger protein 11							87	74	78					13																	50080886		2203	4300	6503	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50080886T>G	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"Zinc fingers, PHD-type"	17024	protein-coding gene	gene with protein product	"IgE responsiveness (atopic)"	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.210T>G	13.37:g.50080886T>G	ENSP00000367570:p.Asn70Lys					PHF11_ENST00000378319.3_Missense_Mutation_p.N70K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	p.N31K	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	3	369	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	70					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.93T>G	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216685	0.58452	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.55	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75085	2.285	0.43355	D	0.99542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.73020	-0.4114	10	0.35671	T	0.21	-29.6694	6.4155	0.21714	0.0:0.3386:0.0:0.6614	.	70;70	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	70;31;31;31;31	ENSP00000367570:N70K;ENSP00000350209:N31K;ENSP00000420129:N31K;ENSP00000405227:N31K;ENSP00000417539:N31K	ENSP00000350209:N31K	N	+	3	2	PHF11	48978887	0.956000	0.32656	0.998000	0.56505	0.993000	0.82548	-0.295000	0.08298	0.088000	0.17205	0.528000	0.53228	AAT		0.343	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		20	106	0	0	0	1	0	20	106					G	50080886	T	G	50080886	3	3	79	1	0	0	0	0	1	0	0	0	11864	1490	52	4	216	4	PHF11	13	50080886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228255	50080886	65088992	14207	24524											
RCBTB1	55213	broad.mit.edu	37	chr13	50125569	50125569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacagcaagccctcatcTgttagtgctagagtatgtgc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	249					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)				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)		AGCCCTCATCTGTTAGTGCTA	0.473																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(745-747)acA>acG		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							146	125	132					13																	50125569		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50125569T>C	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.747A>G	13.37:g.50125569T>C						RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	8	1007	-		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)	249					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.747A>G	CCDS9418.1																																																																																				0.473	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		64	244	0	0	0	1	0	64	244					C	50125569	T	C	50125569	2	2	79	1	0	0	0	0	0	0	0	1	13221	1567	55	4		4	RCBTB1	13	50125569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44683	50125569	65044309	14208	24525											
RCBTB1	55213	broad.mit.edu	37	chr13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgggccactttccgacatCcaccatgactctggcttcaa	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					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)				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)		TTTCCGACATCCACCATGACT	0.468																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(7-9)Gat>Aat		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							112	105	107					13																	50141409		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50141409C>T	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.7G>A	13.37:g.50141409C>T	ENSP00000367552:p.Asp3Asn					RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	3	267	-		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)	3					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.7G>A	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873139	0.97049	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.47528	1.07;1.07;0.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.67189	-0.5733	10	0.87932	D	0	-22.2148	20.1466	0.98079	0.0:1.0:0.0:0.0	.	3	Q8NDN9	RCBT1_HUMAN	N	3	ENSP00000258646:D3N;ENSP00000367552:D3N;ENSP00000443293:D3N	ENSP00000258646:D3N	D	-	1	0	RCBTB1	49039410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.779000	0.95612	0.591000	0.81541	GAT		0.468	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		39	285	0	0	0	1	0	39	285					T	50141409	C	T	50141409	3	4	79	1	0	0	0	0	1	0	0	0	13221	855	30	2	1632	2	RCBTB1	13	50141409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	50141409	65028469	14209	24526											
EBPL	84650	broad.mit.edu	37	chr13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgcattttcttgagTtctagccatgactgccacag	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	190					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(568-570)gaA>gaC		emopamil binding protein-like							64	64	64					13																	50235155		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235155T>G	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.570A>C	13.37:g.50235155T>G	ENSP00000242827:p.Glu190Asp					EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	p.E190D	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	620	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	190					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.570A>C	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932681	0.34096	.	.	ENSG00000123179	ENST00000242827	D	0.98207	-4.79	5.61	0.32	0.15878	.	0.239187	0.43110	D	0.000610	D	0.94847	0.8335	L	0.47016	1.485	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	D	0.87792	0.2619	10	0.25751	T	0.34	-3.3949	6.6785	0.23108	0.0:0.2645:0.1192:0.6163	.	190	Q9BY08	EBPL_HUMAN	D	190	ENSP00000242827:E190D	ENSP00000242827:E190D	E	-	3	2	EBPL	49133156	0.571000	0.26659	0.994000	0.49952	0.958000	0.62258	0.552000	0.23376	0.139000	0.18822	0.528000	0.53228	GAA		0.408	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		42	243	0	0	0	1	0	42	243					G	50235155	T	G	50235155	3	3	79	1	0	0	0	0	1	0	0	0	4903	1722	60	4	54	4	EBPL	13	50235155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93746	50235155	64934723	14210	24527											
EBPL	84650	broad.mit.edu	37	chr13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttccacagacacaatggTtggatcaaaataaacccatc	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000242827.6	-	3	339	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378284.2_Missense_Mutation_p.T97A|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Intron	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	97					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000378284.2																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(289-291)Acc>Gcc		emopamil binding protein-like							140	122	128					13																	50237284		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50237284T>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.289A>G	13.37:g.50237284T>C	ENSP00000242827:p.Thr97Ala					EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000242827.6_Missense_Mutation_p.T97A|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000495963.2_5'UTR	p.T97A	NM_001278636.1	NP_001265565.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	3	327	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	97					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.289A>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929148	0.52759	.	.	ENSG00000123179	ENST00000378284;ENST00000242827;ENST00000378282	D;D	0.97906	-4.6;-4.6	5.9	4.64	0.57946	.	0.231295	0.41938	N	0.000799	D	0.97084	0.9047	L	0.56280	1.765	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	D	0.94759	0.7934	10	0.16896	T	0.51	-7.7929	9.3337	0.38038	0.0:0.1056:0.0:0.8944	.	97	Q9BY08	EBPL_HUMAN	A	91;97;91	ENSP00000242827:T97A;ENSP00000367531:T91A	ENSP00000242827:T97A	T	-	1	0	EBPL	49135285	0.999000	0.42202	0.025000	0.17156	0.902000	0.53008	3.147000	0.50639	0.941000	0.37499	0.454000	0.30748	ACC		0.403	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		110	355	0	0	0	1	0	110	355					C	50237284	T	C	50237284	3	2	79	1	0	0	0	0	1	0	0	0	4903	1725	60	4	339	4	EBPL	13	50237284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2129	50237284	64932594	14211	24528											
C13orf1	57213	broad.mit.edu	37	chr13	50489247	50489247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaaaaccaggtggaggCgtatgataaaactcactgaa	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50489247C>T	ENST00000361840.3	-	5	647	c.543G>A	c.(541-543)acG>acA	p.T181T	SPRYD7_ENST00000378195.2_Silent_p.T142T	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	181	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAGGTGGAGGCGTATGATAAA	0.284																																						ENST00000378195.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(424-426)acG>acA		SPRY domain containing 7							51	54	53					13																	50489247		2203	4296	6499	SO:0001819	synonymous_variant	57213							g.chr13:50489247C>T	AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"chromosome 13 open reading frame 1"	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.543G>A	13.37:g.50489247C>T						SPRYD7_ENST00000361840.3_Silent_p.T181T	p.T142T	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN			4	680	-			181			B30.2/SPRY.		A8K3G1|O60648|Q8TBG8|Q96T69	Silent	SNP	ENST00000361840.3	37	c.426G>A	CCDS9422.1																																																																																				0.284	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		38	234	0	0	0	1	0	38	234					T	50489247	C	T	50489247	2	4	79	1	0	0	0	0	0	0	0	1	1722	755	27	1		1	C13orf1	13	50489247	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251963	50489247	64680631	14212	24529											
RNASEH2B	79621	broad.mit.edu	37	chr13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttcagaggattataTtcgttatgcccatggtctga	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	209					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(625-627)aTt>aCt		ribonuclease H2, subunit B							137	146	143					13																	51522132		2203	4296	6499	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51522132T>C	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.626T>C	13.37:g.51522132T>C	ENSP00000337623:p.Ile209Thr					RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	p.I209T	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	8	1025	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	209					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.626T>C	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384921	0.25031	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96619	-4.07;-4.07	5.77	5.77	0.91146	.	0.521832	0.22594	N	0.058050	D	0.89708	0.6793	N	0.08118	0	0.32135	N	0.586234	B;B	0.27380	0.177;0.01	B;B	0.23419	0.039;0.046	D	0.87590	0.2490	10	0.17832	T	0.49	-4.4388	13.4717	0.61285	0.0:0.0:0.0:1.0	.	209;209	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	T	209	ENSP00000337623:I209T;ENSP00000389877:I209T	ENSP00000337623:I209T	I	+	2	0	RNASEH2B	50420133	1.000000	0.71417	0.222000	0.23844	0.985000	0.73830	5.866000	0.69590	2.197000	0.70478	0.455000	0.32223	ATT		0.303	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		135	502	0	0	0	1	0	135	502					C	51522132	T	C	51522132	3	2	79	1	0	0	0	0	1	0	0	0	13463	1493	52	4	656	4	RNASEH2B	13	51522132	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1032885	51522132	63647746	14213	24530											
WDFY2	115825	broad.mit.edu	37	chr13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggccaagcgtataccatGcaatgccttgtaagtatcca	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	66							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393																																						ENST00000298125.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(196-198)Gca>Aca		WD repeat and FYVE domain containing 2							213	177	189					13																	52234790		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52234790G>A	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.196G>A	13.37:g.52234790G>A	ENSP00000298125:p.Ala66Thr						p.A66T	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	2	376	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	66					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.196G>A	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283920	0.23392	.	.	ENSG00000139668	ENST00000298125	T	0.66815	-0.23	5.76	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.604669	0.19296	N	0.117770	T	0.31231	0.0790	N	0.01109	-1.01	0.21416	N	0.999693	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.34782	T	0.22	-0.1294	5.7799	0.18299	0.237:0.1387:0.6243:0.0	.	66	Q96P53	WDFY2_HUMAN	T	66	ENSP00000298125:A66T	ENSP00000298125:A66T	A	+	1	0	WDFY2	51132791	0.957000	0.32711	0.487000	0.27428	0.946000	0.59487	1.290000	0.33319	0.353000	0.24079	0.557000	0.71058	GCA		0.393	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		35	385	0	0	0	1	0	35	385					A	52234790	G	A	52234790	3	1	79	1	0	0	0	0	1	0	0	0	17323	1319	46	2	202	2	WDFY2	13	52234790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712658	52234790	62935088	14214	24531											
CCDC70	83446	broad.mit.edu	37	chr13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaaaccttctggaaagagGaaaaatccttctgggaaatg	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	104						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(310-312)Gaa>Taa		coiled-coil domain containing 70							65	78	73					13																	52439824		2203	4298	6501	SO:0001587	stop_gained	83446					extracellular region|plasma membrane		g.chr13:52439824G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.310G>T	13.37:g.52439824G>T	ENSP00000242819:p.Glu104*						p.E104*	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	606	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	104					Q8N7A8|Q9H097	Nonsense_Mutation	SNP	ENST00000242819.4	37	c.310G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603293	0.46423	.	.	ENSG00000123171	ENST00000242819	.	.	.	5.83	-0.0301	0.13915	.	0.323654	0.26688	N	0.023011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.8378	5.4271	0.16431	0.4361:0.0:0.4358:0.1281	.	.	.	.	X	104	.	ENSP00000242819:E104X	E	+	1	0	CCDC70	51337825	0.962000	0.33011	0.000000	0.03702	0.000000	0.00434	1.555000	0.36277	-0.092000	0.12417	-0.768000	0.03414	GAA		0.473	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		56	565	1	0	3.21867e-24	1	3.67736e-24	56	565					T	52439824	G	T	52439824	4	4	79	1	0	0	0	0	0	1	0	0	2850	1175	41	3	312	3	CCDC70	13	52439824	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205034	52439824	62730054	14215	24532											
ATP7B	540	broad.mit.edu	37	chr13	52524499	52524499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccaccttgacgatatcGccccgctgcaccagctccat	9	17	0	1	rs570594838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000418097.2_Silent_p.G828G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	828					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGACGATATCGCCCCGCTGCA	0.567									Wilson disease				G|||	7	0.00139776	0.0	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.0072					ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(2482-2484)ggC>ggT		ATPase, Cu++ transporting, beta polypeptide							73	78	76					13																	52524499		2145	4254	6399	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524499G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2484C>T	13.37:g.52524499G>A						ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000400366.3_Silent_p.G717G	p.G828G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2640	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	828					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.2484C>T	CCDS41892.1																																																																																				0.567	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		47	242	0	0	0	1	0	47	242					A	52524499	G	A	52524499	2	1	79	1	0	0	0	0	0	0	0	1	1192	1074	38	1		1	ATP7B	13	52524499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84675	52524499	62645379	14216	24533											
ALG11	440138	broad.mit.edu	37	chr13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggggaatcagactgctgCtacagagaaagaaaaaatta	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	46					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGACTGCTGCTACAGAGAAA	0.373																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(136-138)Cta>Ata		ALG11, alpha-1,2-mannosyltransferase							151	146	147					13																	52593140		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52593140C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.136C>A	13.37:g.52593140C>A	ENSP00000430236:p.Leu46Ile					ALG11_ENST00000523764.1_Intron	p.L46I	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	2	141	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.136C>A	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276529	0.23307	.	.	ENSG00000253710	ENST00000521508	T	0.77358	-1.09	5.74	4.9	0.64082	.	0.594535	0.15138	U	0.278440	T	0.58075	0.2097	N	0.21545	0.675	0.42626	D	0.993367	B	0.13145	0.007	B	0.14023	0.01	T	0.48875	-0.8996	10	0.06236	T	0.91	.	5.5891	0.17291	0.2614:0.5861:0.0:0.1524	.	46	Q2TAA5	ALG11_HUMAN	I	46	ENSP00000430236:L46I	ENSP00000430236:L46I	L	+	1	2	ALG11	51491141	0.990000	0.36364	0.508000	0.27688	0.860000	0.49131	0.250000	0.18235	1.437000	0.47472	0.643000	0.83706	CTA		0.373	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		13	479	1	0	9.31168e-06	1	9.55451e-06	13	479					A	52593140	C	A	52593140	3	1	79	1	0	0	0	0	1	0	0	0	513	796	28	3	142	3	ALG11	13	52593140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68641	52593140	62576738	14217	24534											
ALG11	440138	broad.mit.edu	37	chr13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgtgctttaagagccCtgcagaaaaagtaggtatcc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	89					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTTAAGAGCCCTGCAGAAAAA	0.313																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(265-267)Ctg>Atg		ALG11, alpha-1,2-mannosyltransferase							54	52	52					13																	52593269		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52593269C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.265C>A	13.37:g.52593269C>A	ENSP00000430236:p.Leu89Met					ALG11_ENST00000523764.1_Intron	p.L89M	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	2	270	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.265C>A	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053525	0.55218	.	.	ENSG00000253710	ENST00000521508	D	0.87966	-2.32	5.65	2.51	0.30379	.	0.000000	0.64402	U	0.000018	D	0.90410	0.6998	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.73708	0.981	D	0.88716	0.3226	10	0.51188	T	0.08	.	9.3483	0.38122	0.1211:0.7344:0.0:0.1445	.	89	Q2TAA5	ALG11_HUMAN	M	89	ENSP00000430236:L89M	ENSP00000430236:L89M	L	+	1	2	ALG11	51491270	0.993000	0.37304	0.999000	0.59377	0.992000	0.81027	3.044000	0.49830	0.724000	0.32296	0.579000	0.79373	CTG		0.313	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		45	238	1	0	1.06522e-23	1	1.21267e-23	45	238					A	52593269	C	A	52593269	3	1	79	1	0	0	0	0	1	0	0	0	513	680	24	3	271	3	ALG11	13	52593269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	52593269	62576609	14218	24535											
ALG11	440138	broad.mit.edu	37	chr13	52598190	52598190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcgatgttaatgtcaaCggtcaacagatactagaagg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	108			N -> S (in dbSNP:rs17480245).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTAATGTCAACGGTCAACAGA	0.333																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(322-324)aaC>aaT		ALG11, alpha-1,2-mannosyltransferase							106	104	105					13																	52598190		2203	4300	6503	SO:0001819	synonymous_variant	440138							g.chr13:52598190C>T	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.324C>T	13.37:g.52598190C>T						ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	p.N108N	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	3	329	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	c.324C>T	CCDS31977.1																																																																																				0.333	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		71	316	0	0	0	1	0	71	316					T	52598190	C	T	52598190	2	4	79	1	0	0	0	0	0	0	0	1	513	535	19	1		1	ALG11	13	52598190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4921	52598190	62571688	14219	24536											
ALG11	440138	broad.mit.edu	37	chr13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G													attatccttgcacacaattcINSggggggcccaaagcttgaca					rs201526759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1260)tcggggfs	p.SG419fs	ALG11_ENST00000523764.1_Frame_Shift_Ins_p.G32fs|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.S419S(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCACACAATTCGGGGGGCCCAA	0.426																																						ENST00000521508.1																			1	Substitution - coding silent(1)	p.S419S(1)	lung(1)	endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(1255-1257)tggfs		ALG11, alpha-1,2-mannosyltransferase																																				SO:0001589	frameshift_variant	440138							g.chr13:52602503_52602504insG	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1262dupG	13.37:g.52602509_52602509dupG	ENSP00000430236:p.Ser419fs					UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs|ALG11_ENST00000519151.1_3'UTR	p.W419fs	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	4	1261_1262	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	ENST00000521508.1	37	c.1256_1257insG	CCDS31977.1																																																																																				0.426	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		87	564						87	564	---	---	---	---	G	52602504	-	G	52602503	7	5	79	1	0	1	1	0	0	0	0	0	513	893	31	0	1270	0	ALG11	13	52602503	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4313	52602503	62567375	14220	24537											
UTP14C	9724	broad.mit.edu	37	chr13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcccattgaacatgcgCtcagtggctggaaggcaaga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	174					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAACATGCGCTCAGTGGCTG	0.527																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(520-522)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							62	64	63					13																	52603460		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603460C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.520C>T	13.37:g.52603460C>T	ENSP00000428619:p.Leu174Phe					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L174F	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1253	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	174					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.520C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	2.359	-0.346969	0.05208	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	2.46	0.519	0.17035	.	0.328689	0.30365	N	0.009795	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.23261	-1.0193	10	0.20519	T	0.43	-3.1721	1.2538	0.01988	0.2225:0.4149:0.2187:0.1439	.	174	Q5TAP6	UT14C_HUMAN	F	174	ENSP00000428619:L174F	ENSP00000428619:L174F	L	+	1	0	UTP14C	51501461	0.000000	0.05858	0.741000	0.31004	0.880000	0.50808	-0.181000	0.09740	-0.036000	0.13669	0.448000	0.29417	CTC		0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		65	341	0	0	0	1	0	65	341					T	52603460	C	T	52603460	3	4	79	1	0	0	0	0	1	0	0	0	17150	797	28	2	522	2	UTP14C	13	52603460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957	52603460	62566418	14221	24538											
UTP14C	9724	broad.mit.edu	37	chr13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagggaggcacagaagTggaagaactccttgtccctc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	351					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGCACAGAAGTGGAAGAACTC	0.522																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1051-1053)gTg>gCg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							115	105	108					13																	52603992		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603992T>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1052T>C	13.37:g.52603992T>C	ENSP00000428619:p.Val351Ala						p.V351A	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1785	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	351					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1052T>C	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910884	0.17833	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.58	-3.34	0.04943	.	0.572465	0.18972	N	0.126118	T	0.04679	0.0127	N	0.03608	-0.345	0.20489	N	0.999899	B	0.16802	0.019	B	0.17433	0.018	T	0.34329	-0.9833	9	.	.	.	-8.024	3.9033	0.09171	0.4944:0.1773:0.0:0.3283	.	351	Q5TAP6	UT14C_HUMAN	A	351	ENSP00000428619:V351A	.	V	+	2	0	UTP14C	51501993	0.848000	0.29623	0.004000	0.12327	0.148000	0.21650	1.724000	0.38064	-0.691000	0.05135	-0.795000	0.03280	GTG		0.522	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		87	322	0	0	0	1	0	87	322					C	52603992	T	C	52603992	3	2	79	1	0	0	0	0	1	0	0	0	17150	1696	59	4	1054	4	UTP14C	13	52603992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	532	52603992	62565886	14222	24539											
NEK5	341676	broad.mit.edu	37	chr13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatcttgatggacagGcaggttactcttcttcacca	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	511					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGATGGACAGGCAGGTTACTC	0.433																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1531-1533)Cct>Tct		NIMA-related kinase 5							227	187	200					13																	52657437		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52657437G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1531C>T	13.37:g.52657437G>A	ENSP00000347767:p.Pro511Ser						p.P511S	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	17	1670	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	511					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1531C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000197168	ENST00000355568	T	0.69806	-0.43	5.42	2.24	0.28232	.	0.415847	0.19497	N	0.112832	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33777	-0.9855	10	0.10902	T	0.67	.	8.3384	0.32228	0.2948:0.0:0.7052:0.0	.	511	Q6P3R8	NEK5_HUMAN	S	511	ENSP00000347767:P511S	ENSP00000347767:P511S	P	-	1	0	NEK5	51555438	0.160000	0.22878	0.027000	0.17364	0.124000	0.20399	0.615000	0.24329	0.644000	0.30656	0.455000	0.32223	CCT		0.433	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		58	313	0	0	0	1	0	58	313					A	52657437	G	A	52657437	3	1	79	1	0	0	0	0	1	0	0	0	10369	1203	42	2	619	2	NEK5	13	52657437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53445	52657437	62512441	14223	24540											
NEK5	341676	broad.mit.edu	37	chr13	52684547	52684547	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttgctaagaaaaatgttCtataaatggagaaaatgtca	7	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5						positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAAATGTTCTATAAATGGA	0.363																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.e7-1		NIMA-related kinase 5							151	141	145					13																	52684547		2203	4300	6503	SO:0001630	splice_region_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52684547C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.397-1G>A	13.37:g.52684547C>T								NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	7	536	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						Q5TAP5	Splice_Site	SNP	ENST00000355568.4	37		CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK5	51582548	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.383000	0.79741	2.361000	0.80049	0.460000	0.39030	.		0.363	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	Intron	34	352	0	0	0	1	0	34	352					T	52684547	C	T	52684547	5	4	79	1	0	0	0	0	0	0	1	0	10369	927	32	2	1794	2	NEK5	13	52684547	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	52684547	62485331	14224	24541											
NEK5	341676	broad.mit.edu	37	chr13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaccccgttgtctattgAtccttttcatgagatcccct	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTGTCTATTGATCCTTTTCAT	0.358																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(274-276)aTc>aGc		NIMA-related kinase 5							138	126	130					13																	52686441		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52686441A>C	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.275T>G	13.37:g.52686441A>C	ENSP00000347767:p.Ile92Ser						p.I92S	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	5	414	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	92			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.275T>G	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949068	0.53186	.	.	ENSG00000197168	ENST00000355568	T	0.70986	-0.53	5.29	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081433	0.50627	D	0.000119	D	0.85758	0.5771	M	0.91406	3.205	0.42125	D	0.991441	D	0.89917	1.0	D	0.80764	0.994	D	0.87643	0.2523	10	0.87932	D	0	.	11.2021	0.48747	0.9276:0.0:0.0724:0.0	.	92	Q6P3R8	NEK5_HUMAN	S	92	ENSP00000347767:I92S	ENSP00000347767:I92S	I	-	2	0	NEK5	51584442	1.000000	0.71417	0.899000	0.35326	0.390000	0.30446	8.200000	0.89733	0.954000	0.37851	0.383000	0.25322	ATC		0.358	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		14	339	0	0	0	1	0	14	339					C	52686441	A	C	52686441	3	2	79	1	0	0	0	0	1	0	0	0	10369	333	12	4	1923	4	NEK5	13	52686441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1894	52686441	62483437	14225	24542											
THSD1	55901	broad.mit.edu	37	chr13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtcctagagctgtaggCaggggcctgccgtggagtca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000258613.4	-	5	2216	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000349258.4_Missense_Mutation_p.A627T	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	680					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1879-1881)Gcc>Acc		thrombospondin, type I, domain containing 1							24	25	25					13																	52952067		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952067C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2038G>A	13.37:g.52952067C>T	ENSP00000258613:p.Ala680Thr					THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000258613.4_Missense_Mutation_p.A680T	p.A627T	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2423	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	680					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1879G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253253	0.10185	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.31247	2.23;1.5;2.42	5.55	-2.05	0.07321	.	0.689879	0.14610	N	0.309077	T	0.18759	0.0450	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.14023	0.01;0.006	T	0.14531	-1.0469	10	0.46703	T	0.11	-2.5637	2.9248	0.05780	0.1065:0.3323:0.1151:0.4461	.	627;680	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	627;301;680	ENSP00000340650:A627T;ENSP00000438512:A301T;ENSP00000258613:A680T	ENSP00000258613:A680T	A	-	1	0	THSD1	51850068	0.000000	0.05858	0.015000	0.15790	0.078000	0.17371	-0.176000	0.09811	-0.899000	0.03901	-0.267000	0.10333	GCC		0.597	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			48	212	0	0	0	1	0	48	212					T	52952067	C	T	52952067	3	4	79	1	0	0	0	0	1	0	0	0	15929	710	25	2	524	2	THSD1	13	52952067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265626	52952067	62217811	14226	24543											
THSD1	55901	broad.mit.edu	37	chr13	52952422	52952422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgcatcaatggcagtGtctgtcaggggactctgaga	16	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000258613.4	-	5	1861	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000349258.4_Silent_p.D508D	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1522-1524)gaC>gaT		thrombospondin, type I, domain containing 1							95	100	98					13																	52952422		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952422G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1683C>T	13.37:g.52952422G>A						THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000258613.4_Silent_p.D561D	p.D508D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2068	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	561					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1524C>T	CCDS9432.1																																																																																				0.527	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			75	810	0	0	0	1	0	75	810					A	52952422	G	A	52952422	2	1	79	1	0	0	0	0	0	0	0	1	15929	1368	48	2		2	THSD1	13	52952422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	355	52952422	62217456	14227	24544											
VPS36	51028	broad.mit.edu	37	chr13	52991255	52991255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctcaattaccatgacGccactgtcaaacacacggag	8	12	2	2	rs199529310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	309					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		16992	0.0		0.001	False		,,,				2504	0.0					ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(925-927)ggC>ggT		vacuolar protein sorting 36 homolog (S. cerevisiae)							69	61	64					13																	52991255		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52991255G>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.927C>T	13.37:g.52991255G>A							p.G309G	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	12	954	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	309					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.927C>T	CCDS9434.1																																																																																				0.468	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			28	135	0	0	0	1	0	28	135					A	52991255	G	A	52991255	2	1	79	1	0	0	0	0	0	0	0	1	17258	1074	38	1		1	VPS36	13	52991255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38833	52991255	62178623	14228	24545											
VPS36	51028	broad.mit.edu	37	chr13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaatgtttttgtcagtttCttttcttttttcttccagtt	5	6	4	1	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	169					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E169K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343																																						ENST00000378060.4																			1	Substitution - Missense(1)	p.E169K(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(505-507)Gaa>Taa		vacuolar protein sorting 36 homolog (S. cerevisiae)							127	149	141					13																	53007820		2201	4299	6500	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53007820C>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.505G>T	13.37:g.53007820C>A	ENSP00000367299:p.Glu169*						p.E169*	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	6	532	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	169					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.505G>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	36	5.669719	0.96754	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1812	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000367299:E169X	E	-	1	0	VPS36	51905821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAA		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			41	194	1	0	1.8453e-21	1	2.07902e-21	41	194					A	53007820	C	A	53007820	4	1	79	1	0	0	0	0	0	1	0	0	17258	922	32	3	691	3	VPS36	13	53007820	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16565	53007820	62162058	14229	24546											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagctatggcagtggcagaaGattttaattaggaaacaaag	11	4	0	2	rs569388724		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000357495.2	+	1	1016	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	319					alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493													-|||	1	0.000199681	0.0008	0.0	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0					ENST00000342657.3																			0				cervix(1)|large_intestine(1)|lung(5)	7						c.(955-957)aGa>aTa		heterogeneous nuclear ribonucleoprotein A1-like 2							29	33	32					13																	53217583		1554	2869	4423	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217583G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.956G>T	13.37:g.53217583G>T	ENSP00000350090:p.Arg319Ile					HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I	p.R319I	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN			7	2029	+			319					Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.956G>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013350	0.35511	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.70631	-0.5;-0.5;-0.5	0.352	0.352	0.16051	.	.	.	.	.	D	0.84097	0.5397	H	0.95982	3.75	0.37038	D	0.897007	D	0.55605	0.972	P	0.55011	0.766	D	0.88224	0.2899	8	0.87932	D	0	.	.	.	.	.	319	Q32P51	RA1L2_HUMAN	I	319	ENSP00000341285:R319I;ENSP00000381119:R319I;ENSP00000350090:R319I	ENSP00000341285:R319I	R	+	2	0	HNRNPA1L2	52115584	0.120000	0.22244	0.981000	0.43875	0.425000	0.31504	1.288000	0.33296	0.455000	0.26910	0.089000	0.15464	AGA		0.493	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		37	213	1	0	2.87052e-16	1	3.15093e-16	37	213					T	53217583	G	T	53217583	3	4	79	1	0	0	0	0	1	0	0	0	7288	942	33	3	958	3	HNRNPA1L2	13	53217583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209763	53217583	61952295	14230	24547											
LECT1	11061	broad.mit.edu	37	chr13	53282672	53282672	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcaccggaacgcacaTgataaggattatcaggattg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000377962.3	-	6	866	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000448904.2_Splice_Site_p.H263R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	263					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.e6+1		leukocyte cell derived chemotaxin 1							175	148	157					13																	53282672		2203	4300	6503	SO:0001630	splice_region_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282672T>C	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.789+1A>G	13.37:g.53282672T>C						LECT1_ENST00000377962.3_Splice_Site_p.H263_splice	p.H263_splice	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	898	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	263					Q5TAM4|Q8TAY6|Q9UM18	Splice_Site	SNP	ENST00000377962.3	37	c.789_splice	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819505	0.16607	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28666	1.61;1.6	5.06	5.06	0.68205	.	0.094720	0.64402	D	0.000001	T	0.39886	0.1095	M	0.64997	1.995	0.49051	D	0.999742	P;P	0.41848	0.763;0.651	P;B	0.44990	0.466;0.276	T	0.37502	-0.9703	10	0.66056	D	0.02	.	15.114	0.72384	0.0:0.0:0.0:1.0	.	263;263	O75829-2;O75829	.;LECT1_HUMAN	R	263	ENSP00000388576:H263R;ENSP00000367198:H263R	ENSP00000367198:H263R	H	-	2	0	LECT1	52180673	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	5.407000	0.66363	2.044000	0.60594	0.454000	0.30748	CAT		0.488	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3		Missense_Mutation	46	234	0	0	0	1	0	46	234					C	53282672	T	C	53282672	5	2	79	1	0	0	0	0	0	0	1	0	8743	1478	51	4	224	4	LECT1	13	53282672	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65089	53282672	61887206	14231	24548											
LECT1	11061	broad.mit.edu	37	chr13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacaatttttcttaccaCttctcttctttccctctgga	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000377962.3	-	6	724	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000448904.2_Missense_Mutation_p.V216M			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	216					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(646-648)Gtg>Atg		leukocyte cell derived chemotaxin 1							163	154	157					13																	53282814		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282814C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.646G>A	13.37:g.53282814C>T	ENSP00000367198:p.Val216Met					LECT1_ENST00000377962.3_Missense_Mutation_p.V216M	p.V216M	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	756	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	216					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.646G>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465972	0.26335	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30448	1.53;1.53	5.06	2.1	0.27182	.	0.620299	0.17456	N	0.173615	T	0.12475	0.0303	N	0.08118	0	0.20196	N	0.999925	B;B	0.14012	0.004;0.009	B;B	0.08055	0.003;0.002	T	0.14783	-1.0460	10	0.42905	T	0.14	.	2.1607	0.03824	0.1872:0.4807:0.1188:0.2133	.	216;216	O75829-2;O75829	.;LECT1_HUMAN	M	216	ENSP00000388576:V216M;ENSP00000367198:V216M	ENSP00000367198:V216M	V	-	1	0	LECT1	52180815	0.013000	0.17824	0.943000	0.38184	0.997000	0.91878	-0.300000	0.08243	0.545000	0.28902	0.555000	0.69702	GTG		0.383	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			74	523	0	0	0	1	0	74	523					T	53282814	C	T	53282814	3	4	79	1	0	0	0	0	1	0	0	0	8743	565	20	2	366	2	LECT1	13	53282814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	53282814	61887064	14232	24549											
PCDH8	5100	broad.mit.edu	37	chr13	53419069	53419069	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggtgcacgcccacagtcCtaatacgaaagggaaaagga	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCCACAGTCCTAATACGAAA	0.552																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.e3-1		protocadherin 8							57	46	49					13																	53419069		2203	4300	6503	SO:0001630	splice_region_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419069C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2840-1G>T	13.37:g.53419069C>A						PCDH8_ENST00000338862.4_Splice_Site		NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3043	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Splice_Site	SNP	ENST00000377942.3	37		CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938520	0.52972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH8	52317070	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.487000	0.81328	2.700000	0.92200	0.563000	0.77884	.		0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	Intron	16	240	1	0	6.49762e-13	1	6.99513e-13	16	240					A	53419069	C	A	53419069	5	1	79	1	0	0	0	0	0	0	1	0	11559	695	24	3	377	3	PCDH8	13	53419069	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136255	53419069	61750809	14233	24550											
PCDH8	5100	broad.mit.edu	37	chr13	53419603	53419603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttttcagagcgtccccGctgatgtcggaatcgctgtc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	932					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2794-2796)agC>agT		protocadherin 8							171	136	148					13																	53419603		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419603G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2796C>T	13.37:g.53419603G>A						PCDH8_ENST00000338862.4_Silent_p.S835S	p.S932S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2999	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	932					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2796C>T	CCDS9438.1																																																																																				0.522	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		21	368	0	0	0	1	0	21	368					A	53419603	G	A	53419603	2	1	79	1	0	0	0	0	0	0	0	1	11559	1078	38	1		1	PCDH8	13	53419603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534	53419603	61750275	14234	24551											
PCDH8	5100	broad.mit.edu	37	chr13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacgaagctgacagttgCggtggtggtgagcgggggac	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	704	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2110-2112)Gca>Aca		protocadherin 8							5	8	7					13																	53420462		1864	3876	5740	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420462C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2110G>A	13.37:g.53420462C>T	ENSP00000367177:p.Ala704Thr					PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2313	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	704			Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2110G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777492	0.96929	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50548	0.74;0.74	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.160212	0.29293	N	0.012575	T	0.63343	0.2503	L	0.60845	1.875	0.58432	D	0.999994	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.67879	-0.5556	10	0.66056	D	0.02	.	17.0134	0.86412	0.0:1.0:0.0:0.0	.	704;704	O95206-2;O95206	.;PCDH8_HUMAN	T	704;704;230;547	ENSP00000367177:A704T;ENSP00000341350:A704T	ENSP00000341350:A704T	A	-	1	0	PCDH8	52318463	1.000000	0.71417	0.246000	0.24233	0.995000	0.86356	6.772000	0.75001	2.234000	0.73211	0.655000	0.94253	GCA		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		19	87	0	0	0	1	0	19	87					T	53420462	C	T	53420462	3	4	79	1	0	0	0	0	1	0	0	0	11559	768	27	1	1114	1	PCDH8	13	53420462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859	53420462	61749416	14235	24552											
PCDH8	5100	broad.mit.edu	37	chr13	53422137	53422137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccactgccgcaccctcGgacacctctaccgggatctg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			1	Substitution - coding silent(1)	p.S145S(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(433-435)tcC>tcT		protocadherin 8							28	28	28					13																	53422137		2193	4292	6485	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422137G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.435C>T	13.37:g.53422137G>A						PCDH8_ENST00000338862.4_Silent_p.S145S	p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	638	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	145			Cadherin 2.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.435C>T	CCDS9438.1																																																																																				0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		44	194	0	0	0	1	0	44	194					A	53422137	G	A	53422137	2	1	79	1	0	0	0	0	0	0	0	1	11559	1103	39	1		1	PCDH8	13	53422137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1675	53422137	61747741	14236	24553											
PCDH8	5100	broad.mit.edu	37	chr13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtccaggccggcgtcccCgacggtcagctgcccgtcgc	15	18	1	0	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(256-258)Ggg>Agg		protocadherin 8							39	42	41					13																	53422316		2202	4297	6499	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422316C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.256G>A	13.37:g.53422316C>T	ENSP00000367177:p.Gly86Arg					PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	459	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	86			Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.256G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962254	0.74016	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25912	1.77;1.77	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000849	T	0.41789	0.1174	L	0.33624	1.015	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.20338	-1.0278	10	0.41790	T	0.15	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	86;86	O95206-2;O95206	.;PCDH8_HUMAN	R	86	ENSP00000367177:G86R;ENSP00000341350:G86R	ENSP00000341350:G86R	G	-	1	0	PCDH8	52320317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.337000	0.79520	0.561000	0.74099	GGG		0.647	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		21	465	0	0	0	1	0	21	465					T	53422316	C	T	53422316	3	4	79	1	0	0	0	0	1	0	0	0	11559	652	23	1	2968	1	PCDH8	13	53422316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	53422316	61747562	14237	24554											
PCDH17	27253	broad.mit.edu	37	chr13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgactgaccgcccgctgGaccgcgagacacaagacgag	14	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCCCGCTGGACCGCGAGAC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1291-1293)Gac>Aac		protocadherin 17							40	29	32					13																	58207971		2202	4297	6499	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207971G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1291G>A	13.37:g.58207971G>A	ENSP00000367151:p.Asp431Asn						p.D431N	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1317	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	431			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1291G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394096	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85928	0.1450	9	.	.	.	.	19.8477	0.96722	0.0:0.0:1.0:0.0	.	431;431	O14917-2;O14917	.;PCD17_HUMAN	N	431	ENSP00000367151:D431N	.	D	+	1	0	PCDH17	57105972	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.864000	0.99589	2.704000	0.92352	0.650000	0.86243	GAC		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		35	142	0	0	0	1	0	35	142					A	58207971	G	A	58207971	3	1	79	1	0	0	0	0	1	0	0	0	11554	1174	41	2	1293	2	PCDH17	13	58207971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4785655	58207971	56961907	14238	24555											
PCDH17	27253	broad.mit.edu	37	chr13	58240622	58240622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagacaattttcccgcagaGcccaattacatgggcagcag	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58240622G>T	ENST00000377918.3	+	2	2612	c.2586G>T	c.(2584-2586)gaG>gaT	p.E862D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	862					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTCCCGCAGAGCCCAATTACA	0.413																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2584-2586)gaG>gaT		protocadherin 17							83	84	84					13																	58240622		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58240622G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2586G>T	13.37:g.58240622G>T	ENSP00000367151:p.Glu862Asp						p.E862D	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	2	2612	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	862					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2586G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479519	0.26511	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.19112	0.55	0.53688	D	0.999977	B;B	0.13594	0.002;0.008	B;B	0.13407	0.009;0.008	T	0.12734	-1.0536	9	.	.	.	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	862;862	O14917-2;O14917	.;PCD17_HUMAN	D	862	ENSP00000367151:E862D	.	E	+	3	2	PCDH17	57138623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.370000	0.73114	2.761000	0.94854	0.650000	0.86243	GAG		0.413	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		6	270	1	0	0.0293803	1	0.0294705	6	270					T	58240622	G	T	58240622	3	4	79	1	0	0	0	0	1	0	0	0	11554	962	34	3	2592	3	PCDH17	13	58240622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32651	58240622	56929256	14239	24556											
DIAPH3	81624	broad.mit.edu	37	chr13	60348321	60348321	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttataaatacggtttattAccatggttacaaactttcag	5	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000400320.1_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e27+1		diaphanous-related formin 3							73	73	73					13																	60348321		1816	4082	5898	SO:0001630	splice_region_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348321A>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3319+1T>G	13.37:g.60348321A>C						DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000400319.1_Splice_Site		NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	27	3540	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)						A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Splice_Site	SNP	ENST00000400324.4	37		CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855191	0.71719	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7538	0.78009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH3	59246322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.137000	0.66172	0.533000	0.62120	.		0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	Intron	34	239	0	0	0	1	0	34	239					C	60348321	A	C	60348321	5	2	79	1	0	0	0	0	0	0	1	0	4536	405	14	4	288	4	DIAPH3	13	60348321	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2107699	60348321	54821557	14240	24557											
DIAPH3	81624	broad.mit.edu	37	chr13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatctctaaaggtgctgCtgagcaatcactgcttgcaa	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	104					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(310-312)Gca>Tca		diaphanous-related formin 3							194	180	185					13																	60686224		1852	4113	5965	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686224C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.310G>T	13.37:g.60686224C>A	ENSP00000383178:p.Ala104Ser					DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400319.1_Intron	p.A104S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	530	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	104					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.310G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030165	0.00410	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;T;T	0.80393	-1.37;-1.37;-1.35;-0.98;-1.37	4.24	1.8	0.24995	.	0.720518	0.12749	N	0.442318	T	0.51398	0.1672	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37549	-0.9701	10	0.15952	T	0.53	.	4.2547	0.10712	0.663:0.2219:0.1151:0.0	.	93;93;104	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	104;104;93;93;93;93;104;104	ENSP00000383178:A104S;ENSP00000383184:A104S;ENSP00000367141:A93S;ENSP00000383174:A93S;ENSP00000267215:A104S	ENSP00000267215:A104S	A	-	1	0	DIAPH3	59584225	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.732000	0.26072	0.080000	0.16959	-0.262000	0.10625	GCA		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		126	683	1	0	6.25825e-54	1	7.80561e-54	126	683					A	60686224	C	A	60686224	3	1	79	1	0	0	0	0	1	0	0	0	4536	797	28	3	3395	3	DIAPH3	13	60686224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337903	60686224	54483654	14241	24558											
PCDH20	64881	broad.mit.edu	37	chr13	61986600	61986600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggtgagttgttctcttcGatggttagttctattaaggg	13	4	2	1	rs561712771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986600G>A	ENST00000409186.1	-	5	3737	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PCDH20_ENST00000409204.4_Silent_p.I544I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	544	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTTCTCTTCGATGGTTAGTT	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1630-1632)atC>atT		protocadherin 20							153	156	155					13																	61986600		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986600G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1632C>T	13.37:g.61986600G>A						PCDH20_ENST00000409204.4_Silent_p.I544I	p.I544I			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3737	-		Breast(118;0.195)|Prostate(109;0.229)	517			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1632C>T	CCDS9442.2																																																																																				0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		12	859	0	0	0	1	0	12	859					A	61986600	G	A	61986600	2	1	79	1	0	0	0	0	0	0	0	1	11557	1048	37	1		1	PCDH20	13	61986600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300376	61986600	53183278	14242	24559											
PCDH20	64881	broad.mit.edu	37	chr13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcttatggtgaaaaacGcaatgggagtgttaacgggt	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	452	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1354-1356)gCg>gTg		protocadherin 20							103	103	103					13																	61986877		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986877G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1355C>T	13.37:g.61986877G>A	ENSP00000386653:p.Ala452Val					PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V	p.A452V			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3460	-		Breast(118;0.195)|Prostate(109;0.229)	425			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1355C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240802	0.79912	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60548	0.18;0.18	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.77798	0.4184	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78991	-0.1985	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	452	A8K1K9	.	V	452;452;198	ENSP00000387250:A452V;ENSP00000386653:A452V	ENSP00000351500:A198V	A	-	2	0	PCDH20	60884878	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	GCG		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		91	397	0	0	0	1	0	91	397					A	61986877	G	A	61986877	3	1	79	1	0	0	0	0	1	0	0	0	11557	1087	38	1	1504	1	PCDH20	13	61986877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	61986877	53183001	14243	24560											
PCDH20	64881	broad.mit.edu	37	chr13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgcaattggggtgcccaCtgtagcattcccatacacag	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	335	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1003-1005)Gtg>Ttg		protocadherin 20							91	93	92					13																	61987229		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987229C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1003G>T	13.37:g.61987229C>A	ENSP00000386653:p.Val335Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L	p.V335L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3108	-		Breast(118;0.195)|Prostate(109;0.229)	308			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1003G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684406	0.14907	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	.	0.114954	0.38663	N	0.001605	T	0.39306	0.1073	L	0.28115	0.83	0.30609	N	0.759682	B	0.09022	0.002	B	0.14578	0.011	T	0.29882	-0.9997	10	0.19147	T	0.46	.	6.7269	0.23361	0.0:0.686:0.1652:0.1488	.	335	A8K1K9	.	L	335;335;81	ENSP00000387250:V335L;ENSP00000386653:V335L	ENSP00000351500:V81L	V	-	1	0	PCDH20	60885230	0.990000	0.36364	1.000000	0.80357	0.648000	0.38561	2.585000	0.46111	2.732000	0.93576	0.655000	0.94253	GTG		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		72	375	1	0	6.01781e-45	1	7.37136e-45	72	375					A	61987229	C	A	61987229	3	1	79	1	0	0	0	0	1	0	0	0	11557	565	20	3	1856	3	PCDH20	13	61987229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352	61987229	53182649	14244	24561											
PCDH9	5101	broad.mit.edu	37	chr13	66879090	66879090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcaattatcagagtgAcccaaaaccaagcactcttg	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000377865.2	-	4	3545	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000544246.1_Silent_p.G1137G			Q9HC56	PCDH9_HUMAN	protocadherin 9	1137					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCAGAGTGACCCAAAACCA	0.488																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3409-3411)ggT>ggC		protocadherin 9							88	77	81					13																	66879090		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879090A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3411T>C	13.37:g.66879090A>G						PCDH9_ENST00000377865.2_Silent_p.G1137G|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9-AS1_ENST00000430861.1_RNA	p.G1137G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4102	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1137					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3411T>C	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		42	252	0	0	0	1	0	42	252					G	66879090	A	G	66879090	2	3	79	1	0	0	0	0	0	0	0	1	11560	262	10	4		4	PCDH9	13	66879090	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4891861	66879090	48290788	14245	24562											
PCDH9	5101	broad.mit.edu	37	chr13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctctggagtttccaCgatatccagtccaaaaacac	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000377865.2	-	1	711	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M			Q9HC56	PCDH9_HUMAN	protocadherin 9	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTTTCCACGATATCCAGT	0.423																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(577-579)Gtg>Atg		protocadherin 9							135	136	136					13																	67801996		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801996C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.577G>A	13.37:g.67801996C>T	ENSP00000367096:p.Val193Met					PCDH9_ENST00000377865.2_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M	p.V193M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1268	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	193			Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.577G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470820	0.43942	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.39467	1.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.998;0.999	P;D;D;D	0.66847	0.887;0.928;0.912;0.947	T	0.67749	-0.5590	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	193;193;193;193	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	193	ENSP00000442186:V193M;ENSP00000367096:V193M;ENSP00000401699:V193M;ENSP00000332060:V193M;ENSP00000367092:V193M	ENSP00000332060:V193M	V	-	1	0	PCDH9	66699997	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GTG		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		153	624	0	0	0	1	0	153	624					T	67801996	C	T	67801996	3	4	79	1	0	0	0	0	1	0	0	0	11560	536	19	1	3152	1	PCDH9	13	67801996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922906	67801996	47367882	14246	24563											
PCDH9	5101	broad.mit.edu	37	chr13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttttattttgatcagcCtgaagaaatcattggggagg	10	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000377865.2	-	1	505	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M			Q9HC56	PCDH9_HUMAN	protocadherin 9	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATCAGCCTGAAGAAATC	0.398																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(370-372)aGg>aTg		protocadherin 9							84	86	85					13																	67802202		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802202C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.371G>T	13.37:g.67802202C>A	ENSP00000367096:p.Arg124Met					PCDH9_ENST00000377865.2_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M	p.R124M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1062	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	124			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.371G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647499	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55930	0.54;0.54;0.49;0.49;0.51	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.85197	2.74	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77557	0.94;0.976;0.99;0.976	T	0.79638	-0.1720	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	124;124;124;124	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	124	ENSP00000442186:R124M;ENSP00000367096:R124M;ENSP00000401699:R124M;ENSP00000332060:R124M;ENSP00000367092:R124M	ENSP00000332060:R124M	R	-	2	0	PCDH9	66700203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.816000	0.96949	0.561000	0.74099	AGG		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		19	450	1	0	0.0383953	1	0.0384977	19	450					A	67802202	C	A	67802202	3	1	79	1	0	0	0	0	1	0	0	0	11560	681	24	3	3358	3	PCDH9	13	67802202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	67802202	47367676	14247	24564											
KLHL1	57626	broad.mit.edu	37	chr13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtcacatgtggccactcCgacaccccctctcctcttac	5	20	3	0	rs376662373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					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)			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)		GTGGCCACTCCGACACCCCCT	0.448																																						ENST00000377844.4																			0				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						c.(1921-1923)Gga>Aga		kelch-like family member 1		C	ARG/GLY	0,4406		0,0,2203	130	114	119		1921	5.8	1	13		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL1	NM_020866.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	641/749	70293595	1,13005	2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293595C>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.1921G>A	13.37:g.70293595C>T	ENSP00000367075:p.Gly641Arg					KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	p.G641R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2680	-		Breast(118;0.000162)	641					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1921G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150594	0.94645	0.0	1.16E-4	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.82711	-1.64;-1.64	5.82	5.82	0.92795	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000018	D	0.91192	0.7225	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91300	0.5066	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	641;641	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	641;448	ENSP00000367075:G641R;ENSP00000439602:G448R	ENSP00000367075:G641R	G	-	1	0	KLHL1	69191596	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGA		0.448	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		28	367	0	0	0	1	0	28	367					T	70293595	C	T	70293595	3	4	79	1	0	0	0	0	1	0	0	0	8395	661	23	1	337	1	KLHL1	13	70293595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2491393	70293595	44876283	14248	24565											
KLHL1	57626	broad.mit.edu	37	chr13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttatccattcctcctacaGcatacaaagttccgactgta	5	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	463					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)			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)		TCCTCCTACAGCATACAAAGT	0.343																																						ENST00000377844.4																			0				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						c.(1387-1389)gCt>gAt		kelch-like family member 1							120	112	114					13																	70413134		2201	4299	6500	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70413134G>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.1388C>A	13.37:g.70413134G>T	ENSP00000367075:p.Ala463Asp					KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	p.A463D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	6	2147	-		Breast(118;0.000162)	463					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1388C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859769	0.91433	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80214	-1.35;-1.35	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.199083	0.35096	N	0.003456	D	0.93719	0.7993	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.95790	0.8824	10	0.87932	D	0	.	18.9658	0.92695	0.0:0.0:1.0:0.0	.	463;463	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	463;270	ENSP00000367075:A463D;ENSP00000439602:A270D	ENSP00000367075:A463D	A	-	2	0	KLHL1	69311135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.565000	0.86533	0.591000	0.81541	GCT		0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		21	144	1	0	2.39556e-15	1	2.61601e-15	21	144					T	70413134	G	T	70413134	3	4	79	1	0	0	0	0	1	0	0	0	8395	971	34	3	882	3	KLHL1	13	70413134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119539	70413134	44756744	14249	24566											
KLHL1	57626	broad.mit.edu	37	chr13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcttcttccagaaagtgCtcacaccgcttctctcttgg	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				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)			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)		CCAGAAAGTGCTCACACCGCT	0.592																																						ENST00000377844.4																			0				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						c.(196-198)aGc>aTc		kelch-like family member 1							85	93	90					13																	70681635		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681635C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.197G>T	13.37:g.70681635C>A	ENSP00000367075:p.Ser66Ile					ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	p.S66I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	956	-		Breast(118;0.000162)	66			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.197G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967163	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.73152	-0.72	5.19	5.19	0.71726	.	4.515440	0.00357	N	0.000035	T	0.65533	0.2700	N	0.22421	0.69	0.80722	D	1	B;B	0.24823	0.112;0.047	B;B	0.19148	0.024;0.024	T	0.16897	-1.0387	10	0.48119	T	0.1	.	15.6983	0.77517	0.0:1.0:0.0:0.0	.	66;66	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	66	ENSP00000367075:S66I	ENSP00000367075:S66I	S	-	2	0	KLHL1	69579636	0.996000	0.38824	1.000000	0.80357	0.844000	0.47949	5.094000	0.64523	2.435000	0.82474	0.650000	0.86243	AGC		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		86	380	1	0	9.10895e-26	1	1.04693e-25	86	380					A	70681635	C	A	70681635	3	1	79	1	0	0	0	0	1	0	0	0	8395	797	28	3	2093	3	KLHL1	13	70681635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268501	70681635	44488243	14250	24567											
DACH1	1602	broad.mit.edu	37	chr13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctcttaccatttaagacCctgagactatctgttgaagc	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000359684.2	-	10	2165	c.2166G>T	c.(2164-2166)agG>agT	p.R722S	DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000305425.4_Missense_Mutation_p.R670S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	722					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2008-2010)agG>agT		dachshund homolog 1 (Drosophila)							313	296	302					13																	72049848		1908	4134	6042	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049848C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2166G>T	13.37:g.72049848C>A	ENSP00000352712:p.Arg722Ser					DACH1_ENST00000359684.2_Missense_Mutation_p.R722S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000354591.4_Missense_Mutation_p.R468S	p.R670S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2432	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	720			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.2010G>T		.	.	.	.	.	.	.	.	.	.	c	14.86	2.660850	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35236	1.34;1.4;1.39;1.32	5.1	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.24229	N	0.995409	D;D;B	0.65815	0.989;0.995;0.383	D;D;P	0.76575	0.985;0.988;0.542	T	0.35301	-0.9794	10	0.66056	D	0.02	-12.8608	8.7276	0.34478	0.0:0.708:0.0:0.292	.	466;520;668	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	670;522;468;722;722	ENSP00000304994:R670S;ENSP00000318506:R522S;ENSP00000346604:R468S;ENSP00000352712:R722S	ENSP00000304994:R670S	R	-	3	2	DACH1	70947849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.668000	0.25127	0.273000	0.22049	-0.119000	0.15052	AGG		0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		200	858	1	0	2.38084e-85	1	3.05127e-85	200	858					A	72049848	C	A	72049848	3	1	79	1	0	0	0	0	1	0	0	0	4231	622	22	3	128	3	DACH1	13	72049848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368213	72049848	43120030	14251	24568											
KLF5	688	broad.mit.edu	37	chr13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagctcagagcctggaagtCcagatagacaagcagagatg	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	312					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(934-936)Cca>Tca		Kruppel-like factor 5 (intestinal)							137	114	122					13																	73636671		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636671C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.934C>T	13.37:g.73636671C>T	ENSP00000366915:p.Pro312Ser					KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	p.P312S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1470	+		Prostate(6;0.00187)|Breast(118;0.0735)	312					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.934C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656232	0.67586	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12039	2.96;2.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00468	-1.1721	10	0.54805	T	0.06	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	312	Q13887	KLF5_HUMAN	S	221;312;292	ENSP00000440407:P221S;ENSP00000366915:P312S	ENSP00000366915:P312S	P	+	1	0	KLF5	72534672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCA		0.493	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			61	413	0	0	0	1	0	61	413					T	73636671	C	T	73636671	3	4	79	1	0	0	0	0	1	0	0	0	8379	855	30	2	940	2	KLF5	13	73636671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586823	73636671	41533207	14252	24569											
KLF12	11278	broad.mit.edu	37	chr13	74420163	74420163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgtgcaaaaactgctgGcctccaacaccagatgcaga	8	11	0	2	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	157					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498													G|||	6	0.00119808	0.0045	0.0	5008	,	,		21708	0.0		0.0	False		,,,				2504	0.0					ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(469-471)ggC>ggT		Kruppel-like factor 12		G		18,4388	24.3+/-50.5	0,18,2185	94	80	84		471	3.3	1	13	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		157/403	74420163	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420163G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.471C>T	13.37:g.74420163G>A						KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.G157G	p.G157G	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	497	-		Prostate(6;0.00217)|Breast(118;0.0838)	157					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.471C>T	CCDS9449.1																																																																																				0.498	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		26	140	0	0	0	1	0	26	140					A	74420163	G	A	74420163	2	1	79	1	0	0	0	0	0	0	0	1	8370	1190	42	2		2	KLF12	13	74420163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783492	74420163	40749715	14253	24570											
TBC1D4	9882	broad.mit.edu	37	chr13	75876437	75876437	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcaaaagttccttataGgatatgtcaggaggctgttg	11	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	951	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2851-2853)tcC>tcA		TBC1 domain family, member 4							129	120	123					13																	75876437		1886	4123	6009	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75876437G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2853C>A	13.37:g.75876437G>T						TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S	p.S951S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	16	3199	-		Prostate(6;0.014)|Breast(118;0.0982)	951			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2853C>A	CCDS41901.1																																																																																				0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		55	326	1	0	3.40343e-31	1	4.00304e-31	55	326					T	75876437	G	T	75876437	2	4	79	1	0	0	0	0	0	0	0	1	15674	987	35	3		3	TBC1D4	13	75876437	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1456274	75876437	39293441	14254	24571											
COMMD6	170622	broad.mit.edu	37	chr13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctgcaagtgtctgagCtcacagccatacccagtttc	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377615.3	-	4	256	c.92G>A	c.(91-93)aGc>aAc	p.S31N	COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	31	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGTGTCTGAGCTCACAGCCAT	0.383																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(91-93)aGc>aAc		COMM domain containing 6							95	88	90					13																	76104365		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104365C>T	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.92G>A	13.37:g.76104365C>T	ENSP00000366841:p.Ser31Asn					COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N	p.S31N			Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	256	-		Breast(118;0.0979)|Prostate(6;0.122)	31			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.92G>A	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545648	0.86022	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.09	5.09	0.68999	COMM domain (1);	0.040721	0.85682	D	0.000000	T	0.38852	0.1056	.	.	.	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.22068	-1.0227	9	0.72032	D	0.01	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	31;31	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	N	31;31;46;31	ENSP00000385660:S31N;ENSP00000366841:S31N;ENSP00000366845:S46N;ENSP00000348054:S31N	ENSP00000348054:S31N	S	-	2	0	COMMD6	75002366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.525000	0.85131	0.655000	0.94253	AGC		0.383	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		18	391	0	0	0	1	0	18	391					T	76104365	C	T	76104365	3	4	79	1	0	0	0	0	1	0	0	0	3729	797	28	2	216	2	COMMD6	13	76104365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227928	76104365	39065513	14255	24572											
LMO7	4008	broad.mit.edu	37	chr13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaagaagagactgacaggaGagtgaaaaatgtaagataca	12	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000341547.4	+	6	1754	c.494G>A	c.(493-495)aGa>aAa	p.R165K	LMO7_ENST00000357063.3_Missense_Mutation_p.R165K|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	165	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGACAGGAGAGTGAAAAAT	0.303																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(493-495)aGa>aAa		LIM domain 7							89	91	90					13																	76369557		2203	4295	6498	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76369557G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.494G>A	13.37:g.76369557G>A	ENSP00000342112:p.Arg165Lys					RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000341547.4_Missense_Mutation_p.R165K|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000321797.8_5'UTR	p.R165K			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	6	1754	+		Breast(118;0.0992)	165			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.494G>A	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835958	0.91117	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.56	5.87	5.87	0.94306	.	0.050469	0.85682	D	0.000000	T	0.67711	0.2922	L	0.42245	1.32	0.54753	D	0.999989	P;D;D	0.71674	0.682;0.998;0.996	P;D;D	0.80764	0.692;0.994;0.987	T	0.57768	-0.7754	10	0.06757	T	0.87	-21.8128	20.1991	0.98252	0.0:0.0:1.0:0.0	.	74;165;113	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	165;165;165;113;74	ENSP00000342112:R165K;ENSP00000349571:R165K;ENSP00000366757:R165K;ENSP00000366719:R113K;ENSP00000431129:R74K	ENSP00000342112:R165K	R	+	2	0	LMO7	75267558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.690000	0.84178	2.775000	0.95449	0.650000	0.86243	AGA		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		59	349	0	0	0	1	0	59	349					A	76369557	G	A	76369557	3	1	79	1	0	0	0	0	1	0	0	0	8888	942	33	2	516	2	LMO7	13	76369557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265192	76369557	38800321	14256	24573											
LMO7	4008	broad.mit.edu	37	chr13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccaaatgttggaccccaGaagatgtgaactggaaaaga	10	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000321797.8	+	7	1148	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	LMO7_ENST00000357063.3_Missense_Mutation_p.E428K|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	428	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTGGACCCCAGAAGATGTGAA	0.413																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1282-1284)Gaa>Aaa		LIM domain 7							277	259	265					13																	76379826		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379826G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.427G>A	13.37:g.76379826G>A	ENSP00000317802:p.Glu143Lys					RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000321797.8_Missense_Mutation_p.E143K	p.E428K			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2542	+		Breast(118;0.0992)	428					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1282G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.073856	0.94000	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.06	6.06	0.98353	.	0.054132	0.64402	D	0.000001	T	0.77003	0.4067	M	0.62723	1.935	0.54753	D	0.999985	D	0.76494	0.999	P	0.61874	0.895	T	0.75816	-0.3184	10	0.56958	D	0.05	-25.5359	20.6208	0.99490	0.0:0.0:1.0:0.0	.	143	E9PLH4	.	K	428;428;143;143;143	ENSP00000349571:E428K;ENSP00000366757:E428K;ENSP00000317802:E143K;ENSP00000433352:E143K;ENSP00000432269:E143K	ENSP00000317802:E143K	E	+	1	0	LMO7	75277827	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.598000	0.90852	2.882000	0.98803	0.655000	0.94253	GAA		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		203	1076	0	0	0	1	0	203	1076					A	76379826	G	A	76379826	3	1	79	1	0	0	0	0	1	0	0	0	8888	943	33	2	1320	2	LMO7	13	76379826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10269	76379826	38790052	14257	24574											
LMO7	4008	broad.mit.edu	37	chr13	76395671	76395671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactgatacagtcaggTtaacatctgtggtcacacca	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000321797.8	+	12	2588	c.1867T>C	c.(1867-1869)Tta>Cta	p.L623L	LMO7_ENST00000357063.3_Silent_p.L908L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000341547.4_Silent_p.L574L			Q8WWI1	LMO7_HUMAN	LIM domain 7	908					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TACAGTCAGGTTAACATCTGT	0.463																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2722-2724)Tta>Cta		LIM domain 7							70	67	68					13																	76395671		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76395671T>C	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1867T>C	13.37:g.76395671T>C						LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000321797.8_Silent_p.L623L	p.L908L			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	15	3982	+		Breast(118;0.0992)	908					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.2722T>C		.	.	.	.	.	.	.	.	.	.	T	11.22	1.573555	0.28092	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	-11.9249	4.7432	0.13024	0.1283:0.2078:0.0:0.6639	.	.	.	.	A	531	.	.	V	+	2	0	LMO7	75293672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.822000	0.39052	0.465000	0.27167	0.528000	0.53228	GTT		0.463	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		17	315	0	0	0	1	0	17	315					C	76395671	T	C	76395671	2	2	79	1	0	0	0	0	0	0	0	1	8888	1722	60	4		4	LMO7	13	76395671	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15845	76395671	38774207	14258	24575											
LMO7	4008	broad.mit.edu	37	chr13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcatcgagtccctggGtctttgttatcatttgcatt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000321797.8	+	27	4764	c.4043G>A	c.(4042-4044)gGt>gAt	p.G1348D	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1633					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGTCCCTGGGTCTTTGTTAT	0.493																																						ENST00000341547.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3895-3897)gGt>gAt		LIM domain 7							146	121	129					13																	76429476		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76429476G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4043G>A	13.37:g.76429476G>A	ENSP00000317802:p.Gly1348Asp					LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.G1348D	p.G1299D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	28	5156	+		Breast(118;0.0992)	1633					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3896G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.117643	0.94385	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87256	-2.23;-2.23;-2.23	5.99	5.99	0.97316	.	0.159223	0.56097	D	0.000033	D	0.92811	0.7714	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92382	0.5914	10	0.66056	D	0.02	-23.5131	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1225;1299	E9PMS6;Q8WWI1-3	.;.	D	1299;1348;1225	ENSP00000342112:G1299D;ENSP00000317802:G1348D;ENSP00000431129:G1225D	ENSP00000317802:G1348D	G	+	2	0	LMO7	75327477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT		0.493	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		31	144	0	0	0	1	0	31	144					A	76429476	G	A	76429476	3	1	79	1	0	0	0	0	1	0	0	0	8888	1261	44	2	5016	2	LMO7	13	76429476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33805	76429476	38740402	14259	24576											
KCTD12	115207	broad.mit.edu	37	chr13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcaggtgcccgtggagCtgcacgccaccatgtggaag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	295					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(883-885)aGc>aAc		potassium channel tetramerization domain containing 12							58	46	50					13																	77459400		2203	4300	6503	SO:0001583	missense	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77459400C>T	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.884G>A	13.37:g.77459400C>T	ENSP00000366694:p.Ser295Asn		OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	1125	-		Breast(118;0.212)	295						Missense_Mutation	SNP	ENST00000377474.2	37	c.884G>A	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222536	0.09863	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.117523	0.85682	N	0.000000	T	0.23054	0.0557	N	0.16098	0.37	0.44719	D	0.997712	B	0.18166	0.026	B	0.15052	0.012	T	0.07986	-1.0744	10	0.02654	T	1	.	14.0984	0.65039	0.0:0.802:0.198:0.0	.	295	Q96CX2	KCD12_HUMAN	N	295	ENSP00000366694:S295N;ENSP00000317141:S295N	ENSP00000317141:S295N	S	-	2	0	KCTD12	76357401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.987000	0.29603	2.399000	0.81585	0.462000	0.41574	AGC		0.622	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		31	117	0	0	0	1	0	31	117					T	77459400	C	T	77459400	3	4	79	1	0	0	0	0	1	0	0	0	8129	797	28	2	97	2	KCTD12	13	77459400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029924	77459400	37710478	14260	24577											
KCTD12	115207	broad.mit.edu	37	chr13	77460047	77460047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcccggtccagaaagaaGcggcctttgctgtcccgggc	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	79					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672																																						ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(235-237)cgC>cgT		potassium channel tetramerization domain containing 12							19	16	17					13																	77460047		2166	4237	6403	SO:0001819	synonymous_variant	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77460047G>A	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.237C>T	13.37:g.77460047G>A						KCTD12_ENST00000317765.2_Silent_p.R79R	p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	478	-		Breast(118;0.212)	79						Silent	SNP	ENST00000377474.2	37	c.237C>T	CCDS9455.1																																																																																				0.672	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		23	99	0	0	0	1	0	23	99					A	77460047	G	A	77460047	2	1	79	1	0	0	0	0	0	0	0	1	8129	958	34	2		2	KCTD12	13	77460047	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	77460047	37709831	14261	24578											
CLN5	1203	broad.mit.edu	37	chr13	77570262	77570262	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtagcaactatatcaGgtaagttgtgaaaatatagc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	189					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACTATATCAGGTAAGTTGTG	0.338																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.e3+1		ceroid-lipofuscinosis, neuronal 5							88	87	88					13																	77570262		2203	4300	6503	SO:0001630	splice_region_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570262G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.712+1G>T	13.37:g.77570262G>T						CLN5_ENST00000485938.1_3'UTR	p.G238_splice	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	2004	+		Acute lymphoblastic leukemia(28;0.205)	189					B3KQK7	Splice_Site	SNP	ENST00000377453.3	37	c.712_splice	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	47	13.781606	0.99763	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6383	19.3321	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	238;189;104	.	ENSP00000366673:G238X	G	+	1	0	CLN5	76468263	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	GGA		0.338	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493	Nonsense_Mutation	22	524	1	0	2.21704e-12	1	2.37967e-12	22	524					T	77570262	G	T	77570262	5	4	79	1	0	0	0	0	0	0	1	0	3553	1014	35	3	722	3	CLN5	13	77570262	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110215	77570262	37599616	14262	24579											
FBXL3	26224	broad.mit.edu	37	chr13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcctcagtttcttggatttCtctgcagttccttcttctga	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	19					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTTGGATTTCTCTGCAGTTC	0.383																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(55-57)gaG>gaT		F-box and leucine-rich repeat protein 3							141	152	148					13																	77595939		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77595939C>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.57G>T	13.37:g.77595939C>A	ENSP00000347834:p.Glu19Asp						p.E19D	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	2	381	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	19					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.57G>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133939	0.37630	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.35789	1.45;1.29	5.96	1.71	0.24356	.	0.332847	0.34906	N	0.003593	T	0.13114	0.0318	N	0.08118	0	0.40094	D	0.976287	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.17369	T	0.5	-17.2596	1.574	0.02621	0.1378:0.3734:0.1359:0.3529	.	19	Q9UKT7	FBXL3_HUMAN	D	19	ENSP00000347834:E19D;ENSP00000412183:E19D	ENSP00000347834:E19D	E	-	3	2	FBXL3	76493940	0.999000	0.42202	0.999000	0.59377	0.931000	0.56810	1.126000	0.31344	0.397000	0.25310	0.655000	0.94253	GAG		0.383	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			142	620	1	0	1.80369e-55	1	2.25446e-55	142	620					A	77595939	C	A	77595939	3	1	79	1	0	0	0	0	1	0	0	0	5745	912	32	3	1245	3	FBXL3	13	77595939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	77595939	37573939	14263	24580											
MYCBP2	23077	broad.mit.edu	37	chr13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagcatacctgcaggaCagtgtggtagttcttcctta	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000544440.2	-	82	13816	c.13799G>A	c.(13798-13800)tGt>tAt	p.C4600Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGCAGGACAGTGTGGTAG	0.318																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13912-13914)tGt>tAt		MYC binding protein 2, E3 ubiquitin protein ligase							76	75	75					13																	77625140		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77625140C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13799G>A	13.37:g.77625140C>T	ENSP00000444596:p.Cys4600Tyr					MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.C4600Y	p.C4638Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	82	14179	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4600						Missense_Mutation	SNP	ENST00000544440.2	37	c.13913G>A		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286163	0.80803	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.89287	3.02	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	D	0.85873	0.1417	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	4600	O75592	MYCB2_HUMAN	Y	4600;4638;4600	ENSP00000349892:C4600Y;ENSP00000384288:C4638Y;ENSP00000444596:C4600Y	ENSP00000349892:C4600Y	C	-	2	0	MYCBP2	76523141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	TGT		0.318	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		35	255	0	0	0	1	0	35	255					T	77625140	C	T	77625140	3	4	79	1	0	0	0	0	1	0	0	0	10059	478	17	2	131	2	MYCBP2	13	77625140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29201	77625140	37544738	14264	24581											
MYCBP2	23077	broad.mit.edu	37	chr13	77632491	77632491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtttttaacacccccGcatggatggccacaaggatg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000544440.2	-	78	13094	c.13077C>T	c.(13075-13077)tgC>tgT	p.C4359C	MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000407578.2_Silent_p.C4397C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13189-13191)tgC>tgT		MYC binding protein 2, E3 ubiquitin protein ligase							151	123	132					13																	77632491		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77632491G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13077C>T	13.37:g.77632491G>A						MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000544440.2_Silent_p.C4359C	p.C4397C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	78	13457	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4359						Silent	SNP	ENST00000544440.2	37	c.13191C>T		.	.	.	.	.	.	.	.	.	.	G	9.636	1.137802	0.21123	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-1.34	0.09143	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	12.2985	0.54860	0.5067:0.0:0.4933:0.0	.	.	.	.	W	780	.	.	R	-	1	2	MYCBP2	76530492	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	1.315000	0.33608	-0.201000	0.10284	-0.482000	0.04802	CGG		0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		62	332	0	0	0	1	0	62	332					A	77632491	G	A	77632491	2	1	79	1	0	0	0	0	0	0	0	1	10059	1079	38	1		1	MYCBP2	13	77632491	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7351	77632491	37537387	14265	24582											
MYCBP2	23077	broad.mit.edu	37	chr13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccagtgccatcaaccaGaacaatttggttctaccaca	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000544440.2	-	76	12875	c.12858C>A	c.(12856-12858)ttC>ttA	p.F4286L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCAACCAGAACAATTTGG	0.368																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12970-12972)ttC>ttA		MYC binding protein 2, E3 ubiquitin protein ligase							143	122	129					13																	77635368		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77635368G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12858C>A	13.37:g.77635368G>T	ENSP00000444596:p.Phe4286Leu					MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.F4286L	p.F4324L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	76	13238	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4286						Missense_Mutation	SNP	ENST00000544440.2	37	c.12972C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461572|3.461572	0.63513|0.63513	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	6.17|6.17	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.54957|0.54957	-0.8215|-0.8215	10|5	0.87932|.	D|.	0|.	.|.	10.2374|10.2374	0.43290|0.43290	0.2053:0.0:0.7947:0.0|0.2053:0.0:0.7947:0.0	.|.	4286|.	O75592|.	MYCB2_HUMAN|.	L|M	4286;4324;4286|707	ENSP00000349892:F4286L;ENSP00000384288:F4324L;ENSP00000444596:F4286L|.	ENSP00000349892:F4286L|.	F|L	-|-	3|1	2|2	MYCBP2|MYCBP2	76533369|76533369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	0.923000|0.923000	0.37045|0.37045	0.655000|0.655000	0.94253|0.94253	TTC|CTG		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		51	297	1	0	1.00221e-16	1	1.10252e-16	51	297					T	77635368	G	T	77635368	3	4	79	1	0	0	0	0	1	0	0	0	10059	933	33	3	1096	3	MYCBP2	13	77635368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2877	77635368	37534510	14266	24583											
MYCBP2	23077	broad.mit.edu	37	chr13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgtgttatgcatggAcatttcaaaagtggtctcgg	10	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P|MYCBP2_ENST00000482517.1_5'Flank					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATGCATGGACATTTCAAAA	0.403																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9433-9435)Tcc>Ccc		MYC binding protein 2, E3 ubiquitin protein ligase							129	112	118					13																	77671856		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671856A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9319T>C	13.37:g.77671856A>G	ENSP00000444596:p.Ser3107Pro					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA	p.S3145P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9699	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3107						Missense_Mutation	SNP	ENST00000544440.2	37	c.9433T>C		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		15	520	0	0	0	1	0	15	520					G	77671856	A	G	77671856	3	3	79	1	0	0	0	0	1	0	0	0	10059	275	10	4	4715	4	MYCBP2	13	77671856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36488	77671856	37498022	14267	24584											
MYCBP2	23077	broad.mit.edu	37	chr13	77672965	77672965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctcaactttgcagcaTcagattttaagatgagggat	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77672965T>C	ENST00000544440.2	-	56	8227	c.8210A>G	c.(8209-8211)gAt>gGt	p.D2737G	MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2775G|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTTGCAGCATCAGATTTTAA	0.463																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8323-8325)gAt>gGt		MYC binding protein 2, E3 ubiquitin protein ligase							134	122	126					13																	77672965		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672965T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8210A>G	13.37:g.77672965T>C	ENSP00000444596:p.Asp2737Gly					MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2737G|MYCBP2_ENST00000482517.1_5'UTR	p.D2775G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8590	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2737			Ser-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.8324A>G		.	.	.	.	.	.	.	.	.	.	T	15.17	2.754548	0.49362	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.42;1.41;1.42;0.48	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.81914	0.995;0.993;0.971	T	0.63571	-0.6607	10	0.51188	T	0.08	.	15.9579	0.79902	0.0:0.0:0.0:1.0	.	123;2737;2737	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	G	2737;2775;2737;260	ENSP00000349892:D2737G;ENSP00000384288:D2775G;ENSP00000444596:D2737G;ENSP00000353197:D260G	ENSP00000349892:D2737G	D	-	2	0	MYCBP2	76570966	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	GAT		0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		19	513	0	0	0	1	0	19	513					C	77672965	T	C	77672965	3	2	79	1	0	0	0	0	1	0	0	0	10059	1435	50	4	5824	4	MYCBP2	13	77672965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1109	77672965	37496913	14268	24585											
MYCBP2	23077	broad.mit.edu	37	chr13	77699592	77699592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgcacccatgtcccttcAgaattggttacctggtacat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000544440.2	-	54	7799	c.7782T>C	c.(7780-7782)tcT>tcC	p.S2594S	MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000407578.2_Silent_p.S2632S|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGTCCCTTCAGAATTGGTTA	0.438																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7894-7896)tcT>tcC		MYC binding protein 2, E3 ubiquitin protein ligase							262	221	235					13																	77699592		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77699592A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7782T>C	13.37:g.77699592A>G						MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000544440.2_Silent_p.S2594S|MYCBP2_ENST00000482517.1_5'UTR	p.S2632S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	54	8162	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2594						Silent	SNP	ENST00000544440.2	37	c.7896T>C																																																																																					0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		196	863	0	0	0	1	0	196	863					G	77699592	A	G	77699592	2	3	79	1	0	0	0	0	0	0	0	1	10059	175	7	4		4	MYCBP2	13	77699592	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26627	77699592	37470286	14269	24586											
MYCBP2	23077	broad.mit.edu	37	chr13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcagcctcctcaagaatttCaaggtcttcttctaattcat	5	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000544440.2	-	44	6474	c.6457G>T	c.(6457-6459)Gaa>Taa	p.E2153*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAAGAATTTCAAGGTCTTCT	0.294																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(6571-6573)Gaa>Taa		MYC binding protein 2, E3 ubiquitin protein ligase							82	87	85					13																	77736067		2203	4298	6501	SO:0001587	stop_gained	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77736067C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6457G>T	13.37:g.77736067C>A	ENSP00000444596:p.Glu2153*					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E2153*	p.E2191*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	44	6837	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2153						Nonsense_Mutation	SNP	ENST00000544440.2	37	c.6571G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.314540	0.99734	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.72	5.72	0.89469	.	0.055132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	2153;2191;2153	.	ENSP00000349892:E2153X	E	-	1	0	MYCBP2	76634068	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAA		0.294	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		62	308	1	0	3.39796e-24	1	3.87938e-24	62	308					A	77736067	C	A	77736067	4	1	79	1	0	0	0	0	0	1	0	0	10059	835	29	3	7625	3	MYCBP2	13	77736067	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36475	77736067	37433811	14270	24587											
MYCBP2	23077	broad.mit.edu	37	chr13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtggtgctatctgtcGactgattagggttgaaggca	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000544440.2	-	40	5896	c.5879C>T	c.(5878-5880)tCg>tTg	p.S1960L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5992-5994)tCg>tTg		MYC binding protein 2, E3 ubiquitin protein ligase							229	198	208					13																	77742684		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77742684G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5879C>T	13.37:g.77742684G>A	ENSP00000444596:p.Ser1960Leu					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960L	p.S1998L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	6259	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1960						Missense_Mutation	SNP	ENST00000544440.2	37	c.5993C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475990	0.84640	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04467	-1.0949	10	0.10111	T	0.7	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	L	1960;1998;1960	ENSP00000349892:S1960L;ENSP00000384288:S1998L;ENSP00000444596:S1960L	ENSP00000349892:S1960L	S	-	2	0	MYCBP2	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG		0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		65	379	0	0	0	1	0	65	379					A	77742684	G	A	77742684	3	1	79	1	0	0	0	0	1	0	0	0	10059	1059	37	1	8219	1	MYCBP2	13	77742684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6617	77742684	37427194	14271	24588											
MYCBP2	23077	broad.mit.edu	37	chr13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagtgtcggcactgaaaCgtatagcttctactgaatgg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000544440.2	-	26	3667	c.3650G>A	c.(3649-3651)cGt>cAt	p.R1217H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCACTGAAACGTATAGCTTC	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3763-3765)cGt>cAt		MYC binding protein 2, E3 ubiquitin protein ligase							92	89	90					13																	77779470		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77779470C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3650G>A	13.37:g.77779470C>T	ENSP00000444596:p.Arg1217His					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R1217H	p.R1255H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	26	4030	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1217						Missense_Mutation	SNP	ENST00000544440.2	37	c.3764G>A		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987090	0.53934	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.01	4.16	0.48862	PHR (1);	0.071017	0.64402	D	0.000020	T	0.55321	0.1913	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	P	0.53689	0.732	T	0.65701	-0.6104	10	0.87932	D	0	.	15.345	0.74330	0.0:0.8595:0.1405:0.0	.	1217	O75592	MYCB2_HUMAN	H	1217;1255;1217	ENSP00000349892:R1217H;ENSP00000384288:R1255H;ENSP00000444596:R1217H	ENSP00000349892:R1217H	R	-	2	0	MYCBP2	76677471	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.484000	0.81180	1.090000	0.41315	-0.310000	0.09108	CGT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		81	366	0	0	0	1	0	81	366					T	77779470	C	T	77779470	3	4	79	1	0	0	0	0	1	0	0	0	10059	536	19	1	10504	1	MYCBP2	13	77779470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36786	77779470	37390408	14272	24589											
MYCBP2	23077	broad.mit.edu	37	chr13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccataacctgtacagtctCcacagacagtgcaaaccatg	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000544440.2	-	15	2221	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTACAGTCTCCACAGACAGT	0.493																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2317-2319)gGa>gTa		MYC binding protein 2, E3 ubiquitin protein ligase							111	93	99					13																	77825349		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77825349C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2204G>T	13.37:g.77825349C>A	ENSP00000444596:p.Gly735Val					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G735V	p.G773V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	15	2584	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	735			Cys-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.2318G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379780	0.82682	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55398	-0.8147	10	0.59425	D	0.04	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	735	O75592	MYCB2_HUMAN	V	735;773;735	ENSP00000349892:G735V;ENSP00000384288:G773V;ENSP00000444596:G735V	ENSP00000349892:G735V	G	-	2	0	MYCBP2	76723350	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GGA		0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		13	299	1	0	0.00136819	1	0.0013818	13	299					A	77825349	C	A	77825349	3	1	79	1	0	0	0	0	1	0	0	0	10059	855	30	3	11994	3	MYCBP2	13	77825349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45879	77825349	37344529	14273	24590											
SLAIN1	122060	broad.mit.edu	37	chr13	78320722	78320722	+	Frame_Shift_Del	DEL	A	A	-													agtgtgtcattgagttcaggAaaaaaagggacatgtagtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78320722delA	ENST00000466548.1	+	5	950	c.924delA	c.(922-924)ggafs	p.G308fs	SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	308										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGAGTTCAGGAAAAAAAGGGA	0.388																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(922-924)ggfs		SLAIN motif family, member 1							130	118	122					13																	78320722		2203	4300	6503	SO:0001589	frameshift_variant	122060							g.chr13:78320722delA	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.924delA	13.37:g.78320722delA	ENSP00000419730:p.Gly308fs					SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs	p.G308fs	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	5	950	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	308					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Frame_Shift_Del	DEL	ENST00000466548.1	37	c.924delA																																																																																					0.388	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		7	417						7	417	---	---	---	---	-	78320722	A	-	78320722	7	5	79	1	0	1	0	1	0	0	0	0	14415	233	9	0	277	0	SLAIN1	13	78320722	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	495373	78320722	36849156	14274	24591											
EDNRB	1910	broad.mit.edu	37	chr13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccaagaagcaacagctcGatatctgaagataaaaatag	7	8	1	3	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000334286.5	-	3	837	c.601C>T	c.(601-603)Cga>Tga	p.R201*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R291*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	201					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCAACAGCTCGATATCTGAAG	0.343																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42	GRCh37	CM020406	EDNRB	M	rs104894391	c.(871-873)Cga>Tga		endothelin receptor type B	Bosentan(DB00559)	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	84	93	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	601,601,871,601	4.2	1	13	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	201/443,201/443,291/533,201/437	78477491	1,13005	2203	4300	6503	SO:0001587	stop_gained	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477491G>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.601C>T	13.37:g.78477491G>A	ENSP00000335311:p.Arg201*					EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*|EDNRB_ENST00000334286.5_Nonsense_Mutation_p.R201*	p.R291*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1023	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	201					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	c.871C>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588172	0.97684	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3691	14.7119	0.69238	0.0:0.0:0.8544:0.1456	.	.	.	.	X	291;201;201	.	ENSP00000335311:R201X	R	-	1	2	EDNRB	77375492	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.477000	0.60223	2.521000	0.84997	0.650000	0.86243	CGA		0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			77	413	0	0	0	1	0	77	413					A	78477491	G	A	78477491	4	1	79	1	0	0	0	0	0	1	0	0	4936	1066	37	1	868	1	EDNRB	13	78477491	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156769	78477491	36692387	14275	24592											
EDNRB	1910	broad.mit.edu	37	chr13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaacccttgggccataaggtCttagtgggtggcgtcattat	13	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000334286.5	-	1	389	c.153G>T	c.(151-153)aaG>aaT	p.K51N	EDNRB_ENST00000377211.4_Missense_Mutation_p.K141N|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCATAAGGTCTTAGTGGGTG	0.632																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(421-423)aaG>aaT		endothelin receptor type B	Bosentan(DB00559)						72	76	74					13																	78492556		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492556C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.153G>T	13.37:g.78492556C>A	ENSP00000335311:p.Lys51Asn					EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	p.K141N	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	575	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	51					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.423G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195525	0.22037	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.54675	0.56;0.56;0.56	4.04	2.3	0.28687	.	0.927486	0.09275	N	0.824652	T	0.38295	0.1035	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26708	0.157;0.003;0.023	B;B;B	0.24155	0.051;0.003;0.01	T	0.25293	-1.0136	10	0.35671	T	0.21	-2.4878	5.9342	0.19156	0.0:0.7641:0.0:0.2359	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	141;51;51	ENSP00000366416:K141N;ENSP00000403401:K51N;ENSP00000335311:K51N	ENSP00000335311:K51N	K	-	3	2	EDNRB	77390557	0.000000	0.05858	0.066000	0.19879	0.430000	0.31655	0.369000	0.20416	1.053000	0.40415	-0.194000	0.12790	AAG		0.632	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			46	250	1	0	7.77372e-23	1	8.81276e-23	46	250					A	78492556	C	A	78492556	3	1	79	1	0	0	0	0	1	0	0	0	4936	912	32	3	1324	3	EDNRB	13	78492556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15065	78492556	36677322	14276	24593											
POU4F1	5457	broad.mit.edu	37	chr13	79175757	79175757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcttcttctcgccgccGttgaagagctcaggcttgtt	11	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	351					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1051-1053)aaC>aaT		POU class 4 homeobox 1							29	33	32					13																	79175757		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175757G>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1053C>T	13.37:g.79175757G>A						RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	p.N351N	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1264	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	351					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1053C>T	CCDS31996.1																																																																																				0.657	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			50	216	0	0	0	1	0	50	216					A	79175757	G	A	79175757	2	1	79	1	0	0	0	0	0	0	0	1	12320	1136	40	1		1	POU4F1	13	79175757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683201	79175757	35994121	14277	24594											
RNF219	79596	broad.mit.edu	37	chr13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattttgtcaaggtaagcaGcatccatcgatgcttcactg	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	532	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAGGTAAGCAGCATCCATCGA	0.398																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(1594-1596)gCt>gAt		ring finger protein 219							129	131	130					13																	79190301		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79190301G>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1595C>A	13.37:g.79190301G>T	ENSP00000282003:p.Ala532Asp					RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.A532D	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1653	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	532			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.1595C>A	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016137	0.75161	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	T	0.37210	0.0995	L	0.56769	1.78	0.53688	D	0.999979	D	0.89917	1.0	D	0.74023	0.982	T	0.01925	-1.1246	10	0.87932	D	0	-8.9543	20.2019	0.98263	0.0:0.0:1.0:0.0	.	532	Q5W0B1	RN219_HUMAN	D	532	ENSP00000282003:A532D	ENSP00000282003:A532D	A	-	2	0	RNF219	78088302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.934000	0.70138	2.776000	0.95493	0.655000	0.94253	GCT		0.398	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		92	595	1	0	1.61229e-46	1	1.9812e-46	92	595					T	79190301	G	T	79190301	3	4	79	1	0	0	0	0	1	0	0	0	13532	971	34	3	589	3	RNF219	13	79190301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14544	79190301	35979577	14278	24595											
RNF219	79596	broad.mit.edu	37	chr13	79190435	79190435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccaacagaatttgctatCgtgttcccctctgaactttc	5	13	2	2	rs375756464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	487	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTGCTATCGTGTTCCCCT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20498	0.0		0.0	False		,,,				2504	0.0					ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(1459-1461)acG>acA		ring finger protein 219		C		2,4404	4.2+/-10.8	0,2,2201	49	53	52		1461	-9	0.2	13		52	0,8600		0,0,4300	no	coding-synonymous	RNF219	NM_024546.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		487/727	79190435	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79596						zinc ion binding	g.chr13:79190435C>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1461G>A	13.37:g.79190435C>T						RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.T487T	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1519	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	487			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	c.1461G>A	CCDS31997.1																																																																																				0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		45	258	0	0	0	1	0	45	258					T	79190435	C	T	79190435	2	4	79	1	0	0	0	0	0	0	0	1	13532	871	31	1		1	RNF219	13	79190435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	79190435	35979443	14279	24596											
RBM26	64062	broad.mit.edu	37	chr13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataatgcctttaactcttTttcacttttgtctttcttta	2	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000267229.7_Missense_Mutation_p.K47E|RBM26_ENST00000438724.1_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	47					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTAACTCTTTTTCACTTTTG	0.299																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(139-141)Aaa>Gaa		RNA binding motif protein 26							97	87	91					13																	79952975		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79952975T>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.139A>G	13.37:g.79952975T>C	ENSP00000387531:p.Lys47Glu					RBM26_ENST00000267229.7_Missense_Mutation_p.K47E|RBM26_ENST00000438724.1_Missense_Mutation_p.K47E	p.K47E			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	2	579	-		Acute lymphoblastic leukemia(28;0.0279)	47					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.139A>G		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916933	0.52546	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	Splicing factor PWI (2);	0.053396	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.58432	D	0.999999	B;P;P;P	0.45348	0.065;0.827;0.856;0.827	B;B;P;B	0.45753	0.053;0.359;0.492;0.359	T	0.07947	-1.0746	9	.	.	.	-19.0217	12.0245	0.53362	0.0:0.0:0.144:0.856	.	47;47;47;47	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	47;48;47;47	ENSP00000267229:K47E;ENSP00000390222:K47E	.	K	-	1	0	RBM26	78850976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.214000	0.71695	0.528000	0.53228	AAA		0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		36	124	0	0	0	1	0	36	124					C	79952975	T	C	79952975	3	2	79	1	0	0	0	0	1	0	0	0	13176	1850	64	4	2883	4	RBM26	13	79952975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	762540	79952975	35216903	14280	24597											
SLITRK1	114798	broad.mit.edu	37	chr13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggttcctcaggataaacaCgagcatgcccaccacggtga	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	640					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGATAAACACGAGCATGCCC	0.562																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1918-1920)Gtg>Atg		SLIT and NTRK-like family, member 1							78	64	69					13																	84453725		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453725C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1918G>A	13.37:g.84453725C>T	ENSP00000366288:p.Val640Met						p.V640M	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2803	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	640					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1918G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111056	0.77210	.	.	ENSG00000178235	ENST00000377084	T	0.64991	-0.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72865	-0.4163	10	0.87932	D	0	-13.4456	18.3497	0.90335	0.0:1.0:0.0:0.0	.	640	Q96PX8	SLIK1_HUMAN	M	640	ENSP00000366288:V640M	ENSP00000366288:V640M	V	-	1	0	SLITRK1	83351726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.756000	0.94617	0.655000	0.94253	GTG		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	137	0	0	0	1	0	29	137					T	84453725	C	T	84453725	3	4	79	1	0	0	0	0	1	0	0	0	14792	536	19	1	176	1	SLITRK1	13	84453725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4500750	84453725	30716153	14281	24598											
SLITRK1	114798	broad.mit.edu	37	chr13	84454641	84454641	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtaaactgttagctaaGggtttgttcctggagctacc	12	8	0	0	rs200425087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTAGCTAAGGGTTTGTTCC	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1000-1002)ccC>ccA		SLIT and NTRK-like family, member 1							77	75	76					13																	84454641		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84454641G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1002C>A	13.37:g.84454641G>T							p.P334P	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1887	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	334			LRRNT 2.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1002C>A	CCDS9464.1																																																																																				0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		61	347	1	0	8.13277e-46	1	9.98146e-46	61	347					T	84454641	G	T	84454641	2	4	79	1	0	0	0	0	0	0	0	1	14792	987	35	3		3	SLITRK1	13	84454641	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	84454641	30715237	14282	24599											
SLITRK1	114798	broad.mit.edu	37	chr13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcagtcccaagggTtatcctctagcaggatctcc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCAAGGGTTATCCTCTAG	0.562																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(634-636)aAc>aCc		SLIT and NTRK-like family, member 1							70	68	69					13																	84455008		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455008T>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.635A>C	13.37:g.84455008T>G	ENSP00000366288:p.Asn212Thr						p.N212T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1520	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	212			LRRCT 1.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.635A>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981595	0.53827	.	.	ENSG00000178235	ENST00000377084	T	0.65732	-0.17	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90728	0.4640	10	0.87932	D	0	-14.4397	13.1692	0.59589	0.0:0.0:0.0:1.0	.	212	Q96PX8	SLIK1_HUMAN	T	212	ENSP00000366288:N212T	ENSP00000366288:N212T	N	-	2	0	SLITRK1	83353009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.992000	0.58205	0.459000	0.35465	AAC		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		23	261	0	0	0	1	0	23	261					G	84455008	T	G	84455008	3	3	79	1	0	0	0	0	1	0	0	0	14792	1725	60	4	1459	4	SLITRK1	13	84455008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367	84455008	30714870	14283	24600											
SLITRK5	26050	broad.mit.edu	37	chr13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagggacttggacgaggtatCcaagcaggaactttgcccaa	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(835-837)tCc>tAc		SLIT and NTRK-like family, member 5							80	82	81					13																	88328479		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328479C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.836C>A	13.37:g.88328479C>A	ENSP00000366283:p.Ser279Tyr					SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	p.S279Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1055	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		279			LRRCT 1.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.836C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230717	0.58777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68641	0.3023	M	0.64567	1.98	0.54753	D	0.999983	D;D	0.64830	0.994;0.988	P;D	0.64042	0.885;0.921	T	0.66412	-0.5930	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	Y	279;38	ENSP00000366283:S279Y;ENSP00000442244:S38Y	.	S	+	2	0	SLITRK5	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			100	455	1	0	1.66795e-42	1	2.03135e-42	100	455					A	88328479	C	A	88328479	3	1	79	1	0	0	0	0	1	0	0	0	14796	855	30	3	838	3	SLITRK5	13	88328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3873471	88328479	26841399	14284	24601											
SLITRK5	26050	broad.mit.edu	37	chr13	88329152	88329152	+	Silent	SNP	G	G	A													cagtctggaacttttgacccGgtcccaaacctccagctgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329152G>A	ENST00000325089.6	+	2	1728	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	SLITRK5_ENST00000400028.3_Silent_p.P262P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	503					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTTGACCCGGTCCCAAACC	0.537																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1507-1509)ccG>ccA		SLIT and NTRK-like family, member 5							72	75	74					13																	88329152		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329152G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1509G>A	13.37:g.88329152G>A						SLITRK5_ENST00000400028.3_Silent_p.P262P	p.P503P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1728	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		503					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1509G>A	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			75	362	0	0	0	1	0	75	362					A	88329152	G	A	88329152	2	1	79	1	0	0	0	0	0	0	0	1	14796	1103	39	1		1	SLITRK5	13	88329152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673	88329152	26840726	14285	24602	153	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A													cttttgacccggtcccaaacCtccagctgctattcttgaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	507					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1519-1521)Ctc>Atc		SLIT and NTRK-like family, member 5							70	74	72					13																	88329162		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329162C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1519C>A	13.37:g.88329162C>A	ENSP00000366283:p.Leu507Ile					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	p.L507I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1738	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		507					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1519C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627042	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.81659	-1.33;-1.52	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.88716	0.6512	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88461	0.3055	9	.	.	.	-15.8397	16.2866	0.82724	0.0:1.0:0.0:0.0	.	266;507	B4DSH5;O94991	.;SLIK5_HUMAN	I	507;266	ENSP00000366283:L507I;ENSP00000442244:L266I	.	L	+	1	0	SLITRK5	87127163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.080000	0.71299	2.426000	0.82243	0.561000	0.74099	CTC		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			81	356	1	0	2.13431e-38	1	2.57195e-38	81	356					A	88329162	C	A	88329162	3	1	79	1	0	0	0	0	1	0	0	0	14796	681	24	3	1521	3	SLITRK5	13	88329162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	88329162	26840716	14286	24603	153	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaccacttcacctccTtgccagtgagtggagttttg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1627-1629)Ttg>Gtg		SLIT and NTRK-like family, member 5							93	92	93					13																	88329270		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329270T>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1627T>G	13.37:g.88329270T>G	ENSP00000366283:p.Leu543Val					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	p.L543V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1846	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		543					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1627T>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415636	0.42817	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59502	0.26;0.26	5.22	-0.313	0.12754	.	0.000000	0.64402	D	0.000004	T	0.60248	0.2254	L	0.38649	1.16	0.43942	D	0.996606	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.971	T	0.54221	-0.8326	9	.	.	.	-8.1908	9.6475	0.39877	0.0:0.6669:0.0:0.3331	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	V	543;302	ENSP00000366283:L543V;ENSP00000442244:L302V	.	L	+	1	2	SLITRK5	87127271	0.893000	0.30496	0.991000	0.47740	0.939000	0.58152	0.049000	0.14099	-0.041000	0.13558	-0.421000	0.06004	TTG		0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			103	429	0	0	0	1	0	103	429					G	88329270	T	G	88329270	3	3	79	1	0	0	0	0	1	0	0	0	14796	1606	56	4	1629	4	SLITRK5	13	88329270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	88329270	26840608	14287	24604											
SLITRK5	26050	broad.mit.edu	37	chr13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G													gagctcctttaacatgcagtAcagcgtgtacggcggcggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	714					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2140-2142)tAc>tGc		SLIT and NTRK-like family, member 5							65	74	71					13																	88329784		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329784A>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2141A>G	13.37:g.88329784A>G	ENSP00000366283:p.Tyr714Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	p.Y714C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2360	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		714					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2141A>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524587	0.44969	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.62	5.13	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.61714	0.2369	L	0.33189	0.99	0.50467	D	0.99987	D;B	0.89917	1.0;0.356	D;B	0.74674	0.984;0.043	T	0.57370	-0.7823	9	.	.	.	-9.4438	9.5331	0.39207	0.8422:0.0:0.0:0.1578	.	473;714	B4DSH5;O94991	.;SLIK5_HUMAN	C	714;473	ENSP00000366283:Y714C;ENSP00000442244:Y473C	.	Y	+	2	0	SLITRK5	87127785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.792000	0.91856	0.757000	0.33036	0.454000	0.30748	TAC		0.682	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			16	425	0	0	0	1	0	16	425					G	88329784	A	G	88329784	3	3	79	1	0	0	0	0	1	0	0	0	14796	391	14	4	2143	4	SLITRK5	13	88329784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	514	88329784	26840094	14288	24605	154	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	479						8	479	---	---	---	---	-	88329796	CGG	-	88329794	7	5	79	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-IB-7651-01A-11D-2154-08	10	88329794	26840084	14289	24606	154	2									
GPC5	2262	broad.mit.edu	37	chr13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtccagctctacattaaAgtttctaatatctcgaaatg	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTACATTAAAGTTTCTAATA	0.423																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(289-291)aAg>aCg		glypican 5							115	106	109					13																	92101141		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101141A>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.290A>C	13.37:g.92101141A>C	ENSP00000366267:p.Lys97Thr						p.K97T	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	662	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	97					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.290A>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505070	0.85282	.	.	ENSG00000179399	ENST00000377067	T	0.53640	0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.77103	2.36	0.44055	D	0.996794	D	0.76494	0.999	D	0.76575	0.988	T	0.73933	-0.3826	10	0.87932	D	0	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	97	P78333	GPC5_HUMAN	T	97	ENSP00000366267:K97T	ENSP00000366267:K97T	K	+	2	0	GPC5	90899142	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	8.887000	0.92456	2.086000	0.62901	0.383000	0.25322	AAG		0.423	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		72	321	0	0	0	1	0	72	321					C	92101141	A	C	92101141	3	2	79	1	0	0	0	0	1	0	0	0	6630	72	3	4	296	4	GPC5	13	92101141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3771347	92101141	23068737	14290	24607											
GPC5	2262	broad.mit.edu	37	chr13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcgactgaatctatgAcattcactctgataagtgtg	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	558					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGAATCTATGACATTCACTCT	0.428																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1672-1674)Aca>Tca		glypican 5							383	285	318					13																	93518645		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518645A>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1672A>T	13.37:g.93518645A>T	ENSP00000366267:p.Thr558Ser						p.T558S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2044	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	558					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1672A>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784820	0.16189	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.81	-5.13	0.02884	.	0.874487	0.09523	N	0.790567	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.20638	-1.0269	10	0.24483	T	0.36	-0.0387	7.112	0.25396	0.4492:0.0:0.436:0.1147	.	558	P78333	GPC5_HUMAN	S	558	ENSP00000366267:T558S	ENSP00000366267:T558S	T	+	1	0	GPC5	92316646	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.050000	0.14120	-1.190000	0.02698	-0.417000	0.06048	ACA		0.428	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		66	420	0	0	0	1	0	66	420					T	93518645	A	T	93518645	3	4	79	1	0	0	0	0	1	0	0	0	6630	275	10	5	1702	5	GPC5	13	93518645	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1417504	93518645	21651233	14291	24608											
DCT	1638	broad.mit.edu	37	chr13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgagcaccctaggcttcttCtgtgtatctcttgctgctta	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	517					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1549-1551)Gaa>Taa		dopachrome tautomerase							127	126	126					13																	95092163		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95092163C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1549G>T	13.37:g.95092163C>A	ENSP00000366227:p.Glu517*					DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	p.E517*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	8	1962	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	517					Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.1549G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	40	7.959632	0.98583	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	4.02	0.46733	.	0.109699	0.64402	D	0.000014	.	.	.	.	.	.	0.46631	D	0.999132	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7436	13.6736	0.62440	0.0:0.8104:0.1896:0.0	.	.	.	.	X	517;550	.	ENSP00000366227:E517X	E	-	1	0	DCT	93890164	0.998000	0.40836	0.089000	0.20774	0.806000	0.45545	4.052000	0.57420	1.093000	0.41377	0.563000	0.77884	GAA		0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			64	364	1	0	5.39075e-54	1	6.72428e-54	64	364					A	95092163	C	A	95092163	4	1	79	1	0	0	0	0	0	1	0	0	4315	922	32	3	14	3	DCT	13	95092163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1573518	95092163	20077715	14292	24609											
DCT	1638	broad.mit.edu	37	chr13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtccttgatgtgagaaatCtatggccctgtaggggcgtc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|AL139318.1_ENST00000390768.1_RNA	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	208					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(622-624)Gat>Tat		dopachrome tautomerase							62	63	63					13																	95118886		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95118886C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.622G>T	13.37:g.95118886C>A	ENSP00000366227:p.Asp208Tyr					DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y	p.D208Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	3	1035	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	208					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.622G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953366	0.92660	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99060	-5.38;-5.38	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98965	1.0799	10	0.87932	D	0	-24.8267	19.8418	0.96692	0.0:1.0:0.0:0.0	.	208;208	Q09GT4;P40126	.;TYRP2_HUMAN	Y	208	ENSP00000366227:D208Y;ENSP00000392762:D208Y	ENSP00000366227:D208Y	D	-	1	0	DCT	93916887	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT		0.413	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			35	172	1	0	1.90571e-15	1	2.08261e-15	35	172					A	95118886	C	A	95118886	3	1	79	1	0	0	0	0	1	0	0	0	4315	913	32	3	1068	3	DCT	13	95118886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26723	95118886	20050992	14293	24610											
DCT	1638	broad.mit.edu	37	chr13	95131483	95131483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcccaagcaactgagCagaaacccccaccaaagggg	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	9					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(25-27)ctG>ctA		dopachrome tautomerase							25	25	25					13																	95131483		2203	4299	6502	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131483C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.27G>A	13.37:g.95131483C>T						DCT_ENST00000446125.1_Silent_p.L9L	p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	440	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	9					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.27G>A	CCDS9470.1																																																																																				0.527	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			27	131	0	0	0	1	0	27	131					T	95131483	C	T	95131483	2	4	79	1	0	0	0	0	0	0	0	1	4315	697	25	2		2	DCT	13	95131483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12597	95131483	20038395	14294	24611											
ABCC4	10257	broad.mit.edu	37	chr13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagattccaggcgcttcacaTctcttgacgtttccaaaaaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	888	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCGCTTCACATCTCTTGACGT	0.443																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2662-2664)gAt>gTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						86	91	90					13																	95735417		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95735417T>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2663A>T	13.37:g.95735417T>A	ENSP00000366084:p.Asp888Val					ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	p.D888V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			21	2777	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		888			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2663A>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143521	0.57044	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.89552	-2.53;-2.53	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.088371	0.85682	D	0.000000	D	0.94328	0.8177	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.69142	0.937;0.962	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.202	0.73147	0.0:0.0:0.0:1.0	.	841;888	O15439-2;O15439	.;MRP4_HUMAN	V	841;888	ENSP00000388657:D841V;ENSP00000366084:D888V	ENSP00000366084:D888V	D	-	2	0	ABCC4	94533418	1.000000	0.71417	0.989000	0.46669	0.110000	0.19582	7.520000	0.81821	2.120000	0.65058	0.460000	0.39030	GAT		0.443	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		78	312	0	0	0	1	0	78	312					A	95735417	T	A	95735417	3	1	79	1	0	0	0	0	1	0	0	0	55	1435	50	5	1358	5	ABCC4	13	95735417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	603934	95735417	19434461	14295	24612											
ABCC4	10257	broad.mit.edu	37	chr13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaagagttaacaaggaCgtagaataccaatagagatc	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	789	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTAACAAGGACGTAGAATACC	0.353																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2365-2367)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						89	88	89					13																	95813533		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95813533C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2365G>A	13.37:g.95813533C>T	ENSP00000366084:p.Val789Ile					ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I	p.V789I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			19	2479	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		789			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2365G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845818	0.32606	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.45	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.171789	0.51477	N	0.000091	T	0.76630	0.4014	N	0.16266	0.395	0.38575	D	0.950049	B;B;B;B	0.18013	0.001;0.005;0.025;0.006	B;B;B;B	0.20955	0.004;0.002;0.032;0.009	T	0.65001	-0.6274	10	0.06236	T	0.91	.	11.3749	0.49722	0.0:0.8098:0.0:0.1902	.	714;742;789;789	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	742;789;714;789	ENSP00000388657:V742I;ENSP00000366084:V789I;ENSP00000442024:V714I;ENSP00000398562:V789I	ENSP00000366084:V789I	V	-	1	0	ABCC4	94611534	0.917000	0.31117	0.897000	0.35233	0.982000	0.71751	1.786000	0.38694	0.344000	0.23847	0.650000	0.86243	GTC		0.353	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		35	207	0	0	0	1	0	35	207					T	95813533	C	T	95813533	3	4	79	1	0	0	0	0	1	0	0	0	55	536	19	1	1713	1	ABCC4	13	95813533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78116	95813533	19356345	14296	24613											
ABCC4	10257	broad.mit.edu	37	chr13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgtggcataggcgtAcgctgtgttcaaagccacag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCATAGGCGTACGCTGTGTTC	0.393																																						ENST00000376887.4																			2	Substitution - Missense(2)	p.Y135H(2)	large_intestine(2)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(403-405)Tac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						82	71	75					13																	95886992		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95886992A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.403T>C	13.37:g.95886992A>G	ENSP00000366084:p.Tyr135His					ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H	p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			4	517	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		135			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.403T>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	ABCC4	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		25	109	0	0	0	1	0	25	109					G	95886992	A	G	95886992	3	3	79	1	0	0	0	0	1	0	0	0	55	391	14	4	3735	4	ABCC4	13	95886992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73459	95886992	19282886	14297	24614											
DZIP1	22873	broad.mit.edu	37	chr13	96258277	96258277	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcaccattggcagacttGatttagtttccaaagtgtgc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96258277G>A	ENST00000376829.2	-	14	2308	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	DZIP1_ENST00000361396.2_Missense_Mutation_p.S467L|DZIP1_ENST00000361156.3_Missense_Mutation_p.S467L|DZIP1_ENST00000347108.3_Missense_Mutation_p.S486L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	486					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGCAGACTTGATTTAGTTTC	0.398																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1456-1458)tCa>tTa		DAZ interacting zinc finger protein 1							132	121	125					13																	96258277		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96258277G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1457C>T	13.37:g.96258277G>A	ENSP00000366025:p.Ser486Leu					DZIP1_ENST00000361396.2_Missense_Mutation_p.S467L|DZIP1_ENST00000376829.2_Missense_Mutation_p.S486L|DZIP1_ENST00000361156.3_Missense_Mutation_p.S467L	p.S486L			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		12	1889	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		486					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1457C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214784	0.58452	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.11169	2.87;2.8;2.8;2.87	5.96	5.96	0.96718	.	0.172090	0.38058	N	0.001835	T	0.24084	0.0583	L	0.60455	1.87	0.31289	N	0.689638	D;D	0.63046	0.992;0.986	P;P	0.59357	0.856;0.722	T	0.04115	-1.0976	10	0.16896	T	0.51	-1.0318	15.9193	0.79547	0.0:0.0:1.0:0.0	.	467;486	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	L	486;467;467;486	ENSP00000257312:S486L;ENSP00000355018:S467L;ENSP00000355175:S467L;ENSP00000366025:S486L	ENSP00000257312:S486L	S	-	2	0	DZIP1	95056278	0.996000	0.38824	0.025000	0.17156	0.048000	0.14542	5.368000	0.66133	2.831000	0.97527	0.650000	0.86243	TCA		0.398	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		7	283	0	0	0	1	0	7	283					A	96258277	G	A	96258277	3	1	79	1	0	0	0	0	1	0	0	0	4879	1294	45	2	1186	2	DZIP1	13	96258277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371285	96258277	18911601	14298	24615											
DZIP1	22873	broad.mit.edu	37	chr13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattttcttcagtgtggcggCgttgaatgtgactttgtaga	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000376829.2	-	6	1507	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	219					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGTGGCGGCGTTGAATGTG	0.408																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(655-657)cGc>cTc		DAZ interacting zinc finger protein 1							112	106	108					13																	96285517		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96285517C>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.656G>T	13.37:g.96285517C>A	ENSP00000366025:p.Arg219Leu					DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000376829.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L	p.R219L			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		4	1088	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		219					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.656G>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437293	0.83885	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.08	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.79475	2.455	0.46011	D	0.99881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.985	T	0.76285	-0.3015	10	0.87932	D	0	-7.4353	13.7411	0.62849	0.0:0.9252:0.0:0.0748	.	219;219;219	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	219	ENSP00000257312:R219L;ENSP00000355018:R219L;ENSP00000355175:R219L;ENSP00000366025:R219L	ENSP00000257312:R219L	R	-	2	0	DZIP1	95083518	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	1.283000	0.44513	0.561000	0.74099	CGC		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		21	238	1	0	3.62473e-10	1	3.83521e-10	21	238					A	96285517	C	A	96285517	3	1	79	1	0	0	0	0	1	0	0	0	4879	768	27	3	2019	3	DZIP1	13	96285517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27240	96285517	18884361	14299	24616											
DZIP1	22873	broad.mit.edu	37	chr13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttcttgctctgctcgCcgtcgcagtggctcaggcgc	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000376829.2	-	5	1318	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	156					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCTCTGCTCGCCGTCGCAGTG	0.607																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(466-468)gGc>gAc		DAZ interacting zinc finger protein 1							65	45	51					13																	96293679		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293679C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.467G>A	13.37:g.96293679C>T	ENSP00000366025:p.Gly156Asp					DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000376829.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D	p.G156D			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		3	899	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		156					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.467G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616484	0.14129	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.68	1.82	0.25136	.	0.964593	0.08613	N	0.919682	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40360	0.583;0.666;0.714	B;B;P	0.45428	0.29;0.348;0.48	T	0.26538	-1.0100	10	0.33940	T	0.23	3.5486	4.333	0.11073	0.0:0.3601:0.3114:0.3285	.	156;156;156	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	156	ENSP00000257312:G156D;ENSP00000355018:G156D;ENSP00000355175:G156D;ENSP00000366025:G156D	ENSP00000257312:G156D	G	-	2	0	DZIP1	95091680	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.044000	0.13992	0.395000	0.25257	-0.136000	0.14681	GGC		0.607	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		35	190	0	0	0	1	0	35	190					T	96293679	C	T	96293679	3	4	79	1	0	0	0	0	1	0	0	0	4879	739	26	2	2212	2	DZIP1	13	96293679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	96293679	18876199	14300	24617											
DNAJC3	5611	broad.mit.edu	37	chr13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggaagcacagtctcAacttataaaatctgatgaaa	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000602402.1	+	5	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(439-441)cAa>cCa		DnaJ (Hsp40) homolog, subfamily C, member 3							86	85	85					13																	96409944		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96409944A>C	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.440A>C	13.37:g.96409944A>C	ENSP00000473631:p.Gln147Pro					DNAJC3_ENST00000376795.6_Intron	p.Q147P	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		5	557	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		147					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.440A>C	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798940	0.70567	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.8	4.59	0.56863	Tetratricopeptide repeat-containing (1);	0.302554	0.36893	N	0.002357	T	0.67618	0.2912	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.55615	0.78	T	0.69094	-0.5236	9	0.59425	D	0.04	-1.706	11.7769	0.51991	0.8532:0.1468:0.0:0.0	.	147	Q13217	DNJC3_HUMAN	P	147	.	ENSP00000365991:Q147P	Q	+	2	0	DNAJC3	95207945	1.000000	0.71417	0.605000	0.28930	0.960000	0.62799	6.778000	0.75043	0.982000	0.38575	0.482000	0.46254	CAA		0.343	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			48	211	0	0	0	1	0	48	211					C	96409944	A	C	96409944	3	2	79	1	0	0	0	0	1	0	0	0	4663	130	5	4	458	4	DNAJC3	13	96409944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116265	96409944	18759934	14301	24618											
DNAJC3	5611	broad.mit.edu	37	chr13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcaggcggaccatttAgatttaaattccacttcaat	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000602402.1	+	12	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1492-1494)Aga>Gga		DnaJ (Hsp40) homolog, subfamily C, member 3							92	96	95					13																	96443261		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96443261A>G	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1492A>G	13.37:g.96443261A>G	ENSP00000473631:p.Arg498Gly					DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	p.R498G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		12	1609	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		498					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.1492A>G	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077156	0.36662	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.63	-0.607	0.11615	.	0.190440	0.56097	D	0.000030	T	0.28764	0.0713	N	0.08118	0	0.27402	N	0.95481	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.21655	-1.0239	9	0.54805	T	0.06	-20.008	17.5413	0.87849	0.5106:0.4894:0.0:0.0	.	498;498	A8KA82;Q13217	.;DNJC3_HUMAN	G	498	.	ENSP00000365991:R498G	R	+	1	2	DNAJC3	95241262	0.905000	0.30787	0.938000	0.37757	0.856000	0.48823	0.912000	0.28597	-0.154000	0.11118	-1.256000	0.01477	AGA		0.418	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			44	471	0	0	0	1	0	44	471					G	96443261	A	G	96443261	3	3	79	1	0	0	0	0	1	0	0	0	4663	412	15	4	1538	4	DNAJC3	13	96443261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33317	96443261	18726617	14302	24619											
MBNL2	10150	broad.mit.edu	37	chr13	97928576	97928576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggaacatgctcacgCtctgatgaagaatgcaaatt	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000376673.3	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000345429.6_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	29					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CATGCTCACGCTCTGATGAAG	0.423																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(85-87)cgC>cgT		muscleblind-like splicing regulator 2							151	139	143					13																	97928576		2203	4300	6503	SO:0001819	synonymous_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928576C>T	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.87C>T	13.37:g.97928576C>T						MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000376673.3_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R	p.R29R	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	868	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		29					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.87C>T																																																																																					0.423	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		100	548	0	0	0	1	0	100	548					T	97928576	C	T	97928576	2	4	79	1	0	0	0	0	0	0	0	1	9395	784	28	2		2	MBNL2	13	97928576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1485315	97928576	17241302	14303	24620											
MBNL2	10150	broad.mit.edu	37	chr13	98043610	98043610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagaaacggaatggaAtgccaagaatctgcattgag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000376673.3	+	8	1810	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000345429.6_3'UTR			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	343					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACGGAATGGAATGCCAAGAAT	0.338																																						ENST00000376673.3																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(1027-1029)gaA>gaG		muscleblind-like splicing regulator 2							141	124	130					13																	98043610		2203	4300	6503	SO:0001819	synonymous_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:98043610A>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.1029A>G	13.37:g.98043610A>G						MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000345429.6_3'UTR	p.E343E			Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		8	1810	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		343					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.1029A>G																																																																																					0.338	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		45	305	0	0	0	1	0	45	305					G	98043610	A	G	98043610	2	3	79	1	0	0	0	0	0	0	0	1	9395	98	4	4		4	MBNL2	13	98043610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115034	98043610	17126268	14304	24621											
RAP2A	5911	broad.mit.edu	37	chr13	98086853	98086853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggacttctaccgcaaggaGatcgaggtggattcgtcgcc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	43					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627																																						ENST00000245304.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(127-129)gaG>gaA		RAP2A, member of RAS oncogene family							118	110	113					13																	98086853		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086853G>A	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.129G>A	13.37:g.98086853G>A							p.E43E	NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	378	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		43					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.129G>A	CCDS9485.1																																																																																				0.627	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			104	523	0	0	0	1	0	104	523					A	98086853	G	A	98086853	2	1	79	1	0	0	0	0	0	0	0	1	13090	933	33	2		2	RAP2A	13	98086853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43243	98086853	17083025	14305	24622											
RNF113B	140432	broad.mit.edu	37	chr13	98828993	98828993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccatccccgaggaggaGttgcccatggacgtgtcctt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	166							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCGAGGAGGAGTTGCCCATGG	0.637																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(496-498)aaC>aaT		ring finger protein 113B							83	70	74					13																	98828993		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98828993G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.498C>T	13.37:g.98828993G>A						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	p.N166N	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	526	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		166					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.498C>T	CCDS9486.1																																																																																				0.637	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		69	297	0	0	0	1	0	69	297					A	98828993	G	A	98828993	2	1	79	1	0	0	0	0	0	0	0	1	13478	1020	36	2		2	RNF113B	13	98828993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	742140	98828993	16340885	14306	24623											
RNF113B	140432	broad.mit.edu	37	chr13	98829110	98829110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccgctggctgcacttgagGatggtcggcgtatggtgctc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	127							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCACTTGAGGATGGTCGGCG	0.652																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(379-381)atC>atT		ring finger protein 113B							83	78	80					13																	98829110		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98829110G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.381C>T	13.37:g.98829110G>A						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	p.I127I	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	409	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		127					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.381C>T	CCDS9486.1																																																																																				0.652	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		50	276	0	0	0	1	0	50	276					A	98829110	G	A	98829110	2	1	79	1	0	0	0	0	0	0	0	1	13478	1164	41	2		2	RNF113B	13	98829110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	98829110	16340768	14307	24624											
FARP1	10160	broad.mit.edu	37	chr13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggggtcgcacccgagccCtgcgccgaggagaagccccg	16	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000319562.6	+	13	1548	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000376586.2_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	428					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACCCGAGCCCTGCGCCGAGG	0.672																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1282-1284)cCt>cAt		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							16	22	20					13																	99047599		2193	4281	6474	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047599C>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1283C>A	13.37:g.99047599C>A	ENSP00000322926:p.Pro428His					FARP1_ENST00000595437.1_Missense_Mutation_p.P428H|FARP1_ENST00000319562.6_Missense_Mutation_p.P428H	p.P428H			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1619	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		428					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1283C>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685884	0.68157	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79247	-1.25;-1.07	4.59	4.59	0.56863	.	0.340804	0.30742	N	0.008966	T	0.79257	0.4415	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.43287	0.8;0.802	B;B	0.44224	0.436;0.444	T	0.82307	-0.0522	10	0.56958	D	0.05	.	17.4097	0.87482	0.0:1.0:0.0:0.0	.	428;428	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	428;133;428	ENSP00000365771:P428H;ENSP00000322926:P428H	ENSP00000322926:P428H	P	+	2	0	FARP1	97845600	0.971000	0.33674	0.186000	0.23195	0.007000	0.05969	2.259000	0.43259	2.095000	0.63458	0.462000	0.41574	CCT		0.672	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		33	340	1	0	1.74807e-11	1	1.86564e-11	33	340					A	99047599	C	A	99047599	3	1	79	1	0	0	0	0	1	0	0	0	5701	681	24	3	1552	3	FARP1	13	99047599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218489	99047599	16122279	14308	24625											
FARP1	10160	broad.mit.edu	37	chr13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgagctgtctgtgaactCgcaggggggagtggcccctg	16	11	1	1	rs201301105	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000319562.6	+	14	1725	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000376586.2_Missense_Mutation_p.S487L|FARP1_ENST00000595437.1_Missense_Mutation_p.S487L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	487					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTGTGAACTCGCAGGGGGGA	0.542																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1459-1461)tCg>tTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	44	43	44		1460	5.5	1	13		44	0,8600		0,0,4300	no	missense	FARP1	NM_005766.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	487/1046	99061637	1,13005	2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99061637C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1460C>T	13.37:g.99061637C>T	ENSP00000322926:p.Ser487Leu					FARP1_ENST00000595437.1_Missense_Mutation_p.S487L|FARP1_ENST00000319562.6_Missense_Mutation_p.S487L	p.S487L			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1796	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		487					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1460C>T	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245831|3.245831	0.59103|0.59103	2.27E-4|2.27E-4	0.0|0.0	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.79749	.|-1.3;-1.11	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.208188	.|0.43260	.|D	.|0.000592	T|T	0.79633|0.79633	0.4479|0.4479	M|M	0.64997|0.64997	1.995|1.995	0.46542|0.46542	D|D	0.999091|0.999091	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.09377	.|0.001;0.004	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.51188	.|T	.|0.08	.|.	17.5056|17.5056	0.87745|0.87745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|487;487	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	16|487;192;487	.|ENSP00000365771:S487L;ENSP00000322926:S487L	.|ENSP00000322926:S487L	R|S	+|+	1|2	0|0	FARP1|FARP1	97859638|97859638	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.785000|0.785000	0.44390|0.44390	4.012000|4.012000	0.57131|0.57131	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.542	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		81	255	0	0	0	1	0	81	255					T	99061637	C	T	99061637	3	4	79	1	0	0	0	0	1	0	0	0	5701	893	31	1	1733	1	FARP1	13	99061637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14038	99061637	16108241	14309	24626											
FARP1	10160	broad.mit.edu	37	chr13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgttcaagctgcactTcaagtcccacgtctactact	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000319562.6	+	26	3270	c.3005T>C	c.(3004-3006)tTc>tCc	p.F1002S	FARP1_ENST00000376586.2_Missense_Mutation_p.F1033S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1002	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCTGCACTTCAAGTCCCAC	0.577																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(3097-3099)tTc>tCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							204	150	168					13																	99099020		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99099020T>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3005T>C	13.37:g.99099020T>C	ENSP00000322926:p.Phe1002Ser					FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S|FARP1_ENST00000319562.6_Missense_Mutation_p.F1002S	p.F1033S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		27	3434	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1002					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.3098T>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	33	5.264139	0.95399	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11495	2.77;2.77	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047789	0.85682	D	0.000000	T	0.28333	0.0700	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.00998	-1.1486	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1002;1033	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	1033;1002	ENSP00000365771:F1033S;ENSP00000322926:F1002S	ENSP00000322926:F1002S	F	+	2	0	FARP1	97897021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TTC		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		77	368	0	0	0	1	0	77	368					C	99099020	T	C	99099020	3	2	79	1	0	0	0	0	1	0	0	0	5701	1783	62	4	3326	4	FARP1	13	99099020	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37383	99099020	16070858	14310	24627											
DOCK9	23348	broad.mit.edu	37	chr13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcaatcagcagaccaAacagaggcaggtagagggtg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1170					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGACCAAACAGAGGCAG	0.498																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3505-3507)tTt>tGt		dedicator of cytokinesis 9							46	46	46					13																	99515346		1979	4165	6144	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99515346A>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3506T>G	13.37:g.99515346A>C	ENSP00000365643:p.Phe1169Cys					DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			32	3586	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1170					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3506T>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388034	0.82902	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.04	5.04	0.67666	.	0.050998	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64997	1.995	0.58432	D	0.999999	P;P;D;P;D;D	0.89917	0.933;0.928;1.0;0.515;0.988;0.999	P;P;D;B;P;P	0.85130	0.664;0.541;0.997;0.438;0.887;0.894	T	0.42616	-0.9441	10	0.87932	D	0	.	15.0737	0.72059	1.0:0.0:0.0:0.0	.	1170;1169;1170;1169;1169;1170	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1169;1170;1170;1170;1169;100;1170;1181;1169	ENSP00000365643:F1169C;ENSP00000341086:F1170C;ENSP00000401958:F1181C;ENSP00000406883:F1169C	ENSP00000341086:F1170C	F	-	2	0	DOCK9	98313347	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	8.905000	0.92613	2.020000	0.59435	0.459000	0.35465	TTT		0.498	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		14	40	0	0	0	1	0	14	40					C	99515346	A	C	99515346	3	2	79	1	0	0	0	0	1	0	0	0	4710	14	1	4	2861	4	DOCK9	13	99515346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416326	99515346	15654532	14311	24628											
GPR183	1880	broad.mit.edu	37	chr13	99947758	99947758	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagatctgagaatagcaGatgagaatgattataagtgg	12	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99947758G>T	ENST00000376414.4	-	2	725	c.642C>A	c.(640-642)atC>atA	p.I214I	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	214					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAGAATAGCAGATGAGAATGA	0.393																																						ENST00000376414.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						c.(640-642)atC>atA		G protein-coupled receptor 183							74	74	74					13																	99947758		2203	4297	6500	SO:0001819	synonymous_variant	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99947758G>T	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.642C>A	13.37:g.99947758G>T						UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	p.I214I	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN			2	725	-			214					B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	c.642C>A	CCDS9492.1																																																																																				0.393	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		30	458	1	0	1.75199e-13	1	1.89187e-13	30	458					T	99947758	G	T	99947758	2	4	79	1	0	0	0	0	0	0	0	1	6707	932	33	3		3	GPR183	13	99947758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432412	99947758	15222120	14312	24629											
TM9SF2	9375	broad.mit.edu	37	chr13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacggacactgcacaaagAtattgctagatataatcaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	329					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGCACAAAGATATTGCTAGA	0.353																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(985-987)gAt>gCt		transmembrane 9 superfamily member 2							223	202	209					13																	100193890		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100193890A>C	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.986A>C	13.37:g.100193890A>C	ENSP00000365567:p.Asp329Ala						p.D329A	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			9	1176	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		329					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.986A>C	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828309	0.90955	.	.	ENSG00000125304	ENST00000376387	T	0.61742	0.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91589	0.5285	10	0.87932	D	0	-36.901	15.1335	0.72545	1.0:0.0:0.0:0.0	.	295;329	E9PHW5;Q99805	.;TM9S2_HUMAN	A	329	ENSP00000365567:D329A	ENSP00000365567:D329A	D	+	2	0	TM9SF2	98991891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.215000	0.95146	1.965000	0.57142	0.477000	0.44152	GAT		0.353	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			114	425	0	0	0	1	0	114	425					C	100193890	A	C	100193890	3	2	79	1	0	0	0	0	1	0	0	0	16030	333	12	4	1020	4	TM9SF2	13	100193890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246132	100193890	14975988	14313	24630											
ZIC5	85416	broad.mit.edu	37	chr13	100617847	100617847	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagggggcgcccactggagtCcccactgatgagtaaccaag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1774-1776)ggG>ggT		Zic family member 5							103	105	105					13																	100617847		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617847C>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1776G>T	13.37:g.100617847C>A							p.G592G	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2009	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		592					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1776G>T	CCDS9494.2																																																																																				0.577	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		104	539	1	0	2.6418e-55	1	3.30104e-55	104	539					A	100617847	C	A	100617847	2	1	79	1	0	0	0	0	0	0	0	1	17735	842	30	3		3	ZIC5	13	100617847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423957	100617847	14552031	14314	24631											
ZIC2	7546	broad.mit.edu	37	chr13	100635292	100635292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactggtcaaccacatccGcgtgcacacaggcgagaaac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100635292G>A	ENST00000376335.3	+	1	1267	c.974G>A	c.(973-975)cGc>cAc	p.R325H		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	325			R -> L (in HPE5). {ECO:0000269|PubMed:19177455}.|R -> S (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACCACATCCGCGTGCACACA	0.617																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(973-975)cGc>cAc		Zic family member 2							112	119	117					13																	100635292		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635292G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.974G>A	13.37:g.100635292G>A	ENSP00000365514:p.Arg325His						p.R325H	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1267	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		325		R -> L (in HPE5).|R -> S (in HPE5).			Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.974G>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998919	0.93227	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.96104	-3.91	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000006	D	0.96691	0.8920	L	0.53671	1.685	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	D	0.97228	0.9882	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	325	O95409	ZIC2_HUMAN	H	325;74	ENSP00000365514:R325H	ENSP00000365514:R325H	R	+	2	0	ZIC2	99433293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	CGC		0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		17	671	0	0	0	1	0	17	671					A	100635292	G	A	100635292	3	1	79	1	0	0	0	0	1	0	0	0	17732	1087	38	1	976	1	ZIC2	13	100635292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17445	100635292	14534586	14315	24632											
ZIC2	7546	broad.mit.edu	37	chr13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccacacctccgataagcCctatctctgcaagatgtgcg	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	392					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1174-1176)cCc>cAc		Zic family member 2							150	124	132					13																	100637299		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637299C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1175C>A	13.37:g.100637299C>A	ENSP00000365514:p.Pro392His					ZIC2_ENST00000477213.1_3'UTR	p.P392H	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			2	1468	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		392					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1175C>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896693	0.91962	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.17528	2.27	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54227	-0.8325	10	0.87932	D	0	.	15.5713	0.76341	0.0:1.0:0.0:0.0	.	392	O95409	ZIC2_HUMAN	H	392;141	ENSP00000365514:P392H	ENSP00000365514:P392H	P	+	2	0	ZIC2	99435300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.553000	0.82203	2.241000	0.73720	0.655000	0.94253	CCC		0.632	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		69	458	1	0	1.42748e-55	1	1.78476e-55	69	458					A	100637299	C	A	100637299	3	1	79	1	0	0	0	0	1	0	0	0	17732	623	22	3	1181	3	ZIC2	13	100637299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2007	100637299	14532579	14316	24633											
ZIC2	7546	broad.mit.edu	37	chr13	100637318	100637318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatctctgcaagatgtgCgacaagtcctacacgcaccc	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	398					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1192-1194)tgC>tgT		Zic family member 2							136	113	121					13																	100637318		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637318C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1194C>T	13.37:g.100637318C>T						ZIC2_ENST00000477213.1_3'UTR	p.C398C	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			2	1487	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		398					Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1194C>T	CCDS9495.1																																																																																				0.647	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		112	392	0	0	0	1	0	112	392					T	100637318	C	T	100637318	2	4	79	1	0	0	0	0	0	0	0	1	17732	776	27	1		1	ZIC2	13	100637318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	100637318	14532560	14317	24634											
TMTC4	84899	broad.mit.edu	37	chr13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagttcctgatgccgtggggTcaagctgcaaggagatttca	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000376234.3	-	18	2336	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G|TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	716						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2203-2205)gAc>gGc		transmembrane and tetratricopeptide repeat containing 4							278	248	258					13																	101257327		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257327T>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2147A>G	13.37:g.101257327T>C	ENSP00000365408:p.Asp716Gly					TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G|TMTC4_ENST00000376234.3_Missense_Mutation_p.D716G	p.D735G	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2462	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		716					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2204A>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661990	0.88251	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.65178	-0.14;-0.14;-0.14	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.86740	2.835	0.80722	D	1	D;D;D	0.65815	0.994;0.977;0.995	D;D;D	0.71184	0.936;0.948;0.972	D	0.83781	0.0225	10	0.52906	T	0.07	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	605;716;735	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	G	716;735;605	ENSP00000365408:D716G;ENSP00000343871:D735G;ENSP00000365409:D605G	ENSP00000365409:D605G	D	-	2	0	TMTC4	100055328	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.690000	0.84178	2.363000	0.80096	0.523000	0.50628	GAC		0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		106	625	0	0	0	1	0	106	625					C	101257327	T	C	101257327	3	2	79	1	0	0	0	0	1	0	0	0	16315	1667	58	4	82	4	TMTC4	13	101257327	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	620009	101257327	13912551	14318	24635											
TMTC4	84899	broad.mit.edu	37	chr13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggggaggtagaggacaCgctctgcgaccacgaagccc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000376234.3	-	10	1424	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	412						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1291-1293)cGt>cAt		transmembrane and tetratricopeptide repeat containing 4							75	68	70					13																	101287360		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101287360C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1235G>A	13.37:g.101287360C>T	ENSP00000365408:p.Arg412His					TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.R412H	p.R431H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			11	1550	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		412					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1292G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789938	0.90367	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69685	-0.42;-0.42;-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.997	D	0.91246	0.5025	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	301;412;412;431	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	H	412;431;301	ENSP00000365408:R412H;ENSP00000343871:R431H;ENSP00000365409:R301H	ENSP00000365409:R301H	R	-	2	0	TMTC4	100085361	1.000000	0.71417	0.955000	0.39395	0.438000	0.31896	7.693000	0.84214	2.584000	0.87258	0.563000	0.77884	CGT		0.527	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		22	170	0	0	0	1	0	22	170					T	101287360	C	T	101287360	3	4	79	1	0	0	0	0	1	0	0	0	16315	536	19	1	1026	1	TMTC4	13	101287360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30033	101287360	13882518	14319	24636											
TMTC4	84899	broad.mit.edu	37	chr13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgagggggatgcagccCattgaccaatcaaaacacag	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000376234.3	-	9	1212	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	341						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCAGCCCATTGACCAAT	0.502																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1078-1080)atG>atA		transmembrane and tetratricopeptide repeat containing 4							136	128	131					13																	101288908		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101288908C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1023G>A	13.37:g.101288908C>T	ENSP00000365408:p.Met341Ile					TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.M341I	p.M360I	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			10	1338	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		341					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1080G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229546	0.95173	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.91140	3.18	0.80722	D	1	P;D;D;P	0.63046	0.94;0.992;0.977;0.929	P;D;P;P	0.64144	0.897;0.922;0.893;0.614	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;341;341;360	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	341;360;230	ENSP00000365408:M341I;ENSP00000343871:M360I;ENSP00000365409:M230I	ENSP00000365409:M230I	M	-	3	0	TMTC4	100086909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG		0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		14	468	0	0	0	1	0	14	468					T	101288908	C	T	101288908	3	4	79	1	0	0	0	0	1	0	0	0	16315	594	21	2	1242	2	TMTC4	13	101288908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	101288908	13880970	14320	24637											
NALCN	259232	broad.mit.edu	37	chr13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctacctgagggcagacGccactgcccaaatttcctct	9	15	1	2	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1671					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(5011-5013)Cgt>Tgt		sodium leak channel, non-selective		G	CYS/ARG	0,4406		0,0,2203	91	93	92		5011	4.4	1	13	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NALCN	NM_052867.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1671/1739	101710303	1,13005	2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101710303G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.5011C>T	13.37:g.101710303G>A	ENSP00000251127:p.Arg1671Cys					NALCN-AS1_ENST00000457843.1_RNA	p.R1671C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			43	5092	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1671					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.5011C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587370	0.66105	0.0	1.16E-4	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.29	4.45	0.53987	.	0.103999	0.64402	N	0.000003	D	0.93223	0.7841	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44278	0.445	D	0.93482	0.6828	10	0.66056	D	0.02	.	11.949	0.52944	0.1454:0.0:0.8546:0.0	.	1671	Q8IZF0	NALCN_HUMAN	C	1671	ENSP00000251127:R1671C	ENSP00000251127:R1671C	R	-	1	0	NALCN	100508304	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.238000	0.58688	1.221000	0.43506	0.655000	0.94253	CGT		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		51	343	0	0	0	1	0	51	343					A	101710303	G	A	101710303	3	1	79	1	0	0	0	0	1	0	0	0	10189	1087	38	1	213	1	NALCN	13	101710303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421395	101710303	13459575	14321	24638											
NALCN	259232	broad.mit.edu	37	chr13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttcttgagccacatgCggatggtctgcttggccacc	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1573					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4717-4719)cGc>cAc		sodium leak channel, non-selective							125	90	102					13																	101714357		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714357C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4718G>A	13.37:g.101714357C>T	ENSP00000251127:p.Arg1573His						p.R1573H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			41	4799	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1573					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4718G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441723	0.96187	.	.	ENSG00000102452	ENST00000251127	D	0.98090	-4.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99379	1.0922	10	0.72032	D	0.01	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1573	Q8IZF0	NALCN_HUMAN	H	1573	ENSP00000251127:R1573H	ENSP00000251127:R1573H	R	-	2	0	NALCN	100512358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	CGC		0.637	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		59	302	0	0	0	1	0	59	302					T	101714357	C	T	101714357	3	4	79	1	0	0	0	0	1	0	0	0	10189	768	27	1	514	1	NALCN	13	101714357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4054	101714357	13455521	14322	24639											
NALCN	259232	broad.mit.edu	37	chr13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgccaaaggtacggTcaccgggtcctcgacgtccc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1238					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3712-3714)Acc>Gcc		sodium leak channel, non-selective							126	113	117					13																	101735213		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735213T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3712A>G	13.37:g.101735213T>C	ENSP00000251127:p.Thr1238Ala						p.T1238A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			33	3793	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1238					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3712A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625989	0.46840	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.64	5.64	0.86602	.	0.048760	0.85682	D	0.000000	D	0.95818	0.8639	L	0.57536	1.79	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	D	0.93815	0.7113	10	0.41790	T	0.15	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	1238	Q8IZF0	NALCN_HUMAN	A	1238	ENSP00000251127:T1238A	ENSP00000251127:T1238A	T	-	1	0	NALCN	100533214	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.613000	0.82986	2.137000	0.66172	0.528000	0.53228	ACC		0.522	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		16	296	0	0	0	1	0	16	296					C	101735213	T	C	101735213	3	2	79	1	0	0	0	0	1	0	0	0	10189	1667	58	4	1552	4	NALCN	13	101735213	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20856	101735213	13434665	14323	24640											
NALCN	259232	broad.mit.edu	37	chr13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgaaaacagacttgCgaagctgaaaatgataagag	11	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2122-2124)cGc>cAc		sodium leak channel, non-selective							122	117	119					13																	101777028		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101777028C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2123G>A	13.37:g.101777028C>T	ENSP00000251127:p.Arg708His						p.R708H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			18	2204	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		708					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2123G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087110	0.55861	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	6.07	6.07	0.98685	.	0.048229	0.85682	D	0.000000	D	0.93864	0.8037	N	0.14661	0.345	0.80722	D	1	P	0.38420	0.63	B	0.37047	0.24	D	0.92981	0.6406	10	0.24483	T	0.36	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	708	Q8IZF0	NALCN_HUMAN	H	708	ENSP00000251127:R708H	ENSP00000251127:R708H	R	-	2	0	NALCN	100575029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGC		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		87	435	0	0	0	1	0	87	435					T	101777028	C	T	101777028	3	4	79	1	0	0	0	0	1	0	0	0	10189	768	27	1	3201	1	NALCN	13	101777028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41815	101777028	13392850	14324	24641											
FGF14	2259	broad.mit.edu	37	chr13	102568812	102568812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacagaccttggcgccGcaacctgcgcttcttgaggc	10	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568812G>A	ENST00000376143.4	-	1	183	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	62					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGGCGCCGCAACCTGCGC	0.652																																						ENST00000376143.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(184-186)Cgg>Tgg		fibroblast growth factor 14							43	45	44					13																	102568812		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102568812G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.184C>T	13.37:g.102568812G>A	ENSP00000365313:p.Arg62Trp					FGF14_ENST00000376131.4_Intron	p.R62W	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN			1	183	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		62					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.184C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726908	0.48833	.	.	ENSG00000102466	ENST00000376143	T	0.78595	-1.19	5.36	4.51	0.55191	.	.	.	.	.	D	0.83538	0.5276	L	0.58810	1.83	0.32606	N	0.525298	D	0.71674	0.998	D	0.63793	0.918	D	0.86464	0.1781	9	0.72032	D	0.01	.	11.0126	0.47671	0.0:0.1403:0.7139:0.1458	.	62	Q92915	FGF14_HUMAN	W	62	ENSP00000365313:R62W	ENSP00000365313:R62W	R	-	1	2	FGF14	101366813	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	2.877000	0.48506	1.226000	0.43582	0.563000	0.77884	CGG		0.652	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			52	270	0	0	0	1	0	52	270					A	102568812	G	A	102568812	3	1	79	1	0	0	0	0	1	0	0	0	5868	1086	38	1	579	1	FGF14	13	102568812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791784	102568812	12601066	14325	24642											
FGF14	2259	broad.mit.edu	37	chr13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgcagagcccgcggtTcttgctggggctgctccgcc	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	36					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCCGCGGTTCTTGCTGGGG	0.672																																						ENST00000376143.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(106-108)Aac>Cac		fibroblast growth factor 14							37	34	35					13																	102568890		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102568890T>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.106A>C	13.37:g.102568890T>G	ENSP00000365313:p.Asn36His					FGF14_ENST00000376131.4_Intron	p.N36H	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN			1	105	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		36					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.106A>C	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274869	0.59649	.	.	ENSG00000102466	ENST00000376143	T	0.77358	-1.09	5.28	4.02	0.46733	.	.	.	.	.	T	0.66934	0.2840	L	0.34521	1.04	0.38969	D	0.958714	B	0.33073	0.396	B	0.32022	0.139	T	0.70245	-0.4925	9	0.48119	T	0.1	.	11.5774	0.50869	0.0:0.0:0.1492:0.8508	.	36	Q92915	FGF14_HUMAN	H	36	ENSP00000365313:N36H	ENSP00000365313:N36H	N	-	1	0	FGF14	101366891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.493000	0.60341	1.989000	0.58080	0.460000	0.39030	AAC		0.672	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			35	181	0	0	0	1	0	35	181					G	102568890	T	G	102568890	3	3	79	1	0	0	0	0	1	0	0	0	5868	1783	62	4	657	4	FGF14	13	102568890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	102568890	12600988	14326	24643											
TPP2	7174	broad.mit.edu	37	chr13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggagaccggagccgcctCcttcctctgccgctacccgg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376065.4	+	1	110	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376052.3_Missense_Mutation_p.S25Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	25					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)			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)					GGAGCCGCCTCCTTCCTCTGC	0.682																																						ENST00000376052.3																			0				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						c.(73-75)tCc>tAc		tripeptidyl peptidase II							13	16	15					13																	103249462		2167	4244	6411	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103249462C>A	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.74C>A	13.37:g.103249462C>A	ENSP00000365233:p.Ser25Tyr					TPP2_ENST00000376065.4_Missense_Mutation_p.S25Y	p.S25Y			P29144	TPP2_HUMAN			1	90	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		25					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.74C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839087	0.71373	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.45276	0.9;0.9	5.37	4.53	0.55603	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.349320	0.30501	N	0.009485	T	0.33876	0.0878	L	0.48642	1.525	0.49299	D	0.999778	P	0.39576	0.679	B	0.35413	0.202	T	0.20174	-1.0283	10	0.66056	D	0.02	.	9.7119	0.40251	0.0:0.7857:0.1404:0.0739	.	25	P29144	TPP2_HUMAN	Y	25	ENSP00000365233:S25Y;ENSP00000365220:S25Y	ENSP00000365220:S25Y	S	+	2	0	TPP2	102047463	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.876000	0.63079	1.261000	0.44149	0.650000	0.86243	TCC		0.682	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			27	103	1	0	9.80776e-20	1	1.0954e-19	27	103					A	103249462	C	A	103249462	3	1	79	1	0	0	0	0	1	0	0	0	16465	855	30	3	76	3	TPP2	13	103249462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680572	103249462	11920416	14327	24644											
TPP2	7174	broad.mit.edu	37	chr13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacactgcagtgaaggCtgacaatatagaagtatttg	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376065.4	+	12	1502	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376052.3_Missense_Mutation_p.A489D	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	489	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)			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)					GCAGTGAAGGCTGACAATATA	0.333																																						ENST00000376052.3																			0				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						c.(1465-1467)gCt>gAt		tripeptidyl peptidase II							117	117	117					13																	103288009		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103288009C>A	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.1466C>A	13.37:g.103288009C>A	ENSP00000365233:p.Ala489Asp					TPP2_ENST00000376065.4_Missense_Mutation_p.A489D	p.A489D			P29144	TPP2_HUMAN			12	1482	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		489					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1466C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258655	0.59321	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88354	-2.37;-2.37	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.158737	0.56097	D	0.000033	D	0.87111	0.6096	L	0.33710	1.025	0.50467	D	0.999874	P	0.49253	0.921	P	0.48952	0.596	D	0.86781	0.1979	10	0.45353	T	0.12	.	14.3065	0.66389	0.0:0.9295:0.0:0.0705	.	489	P29144	TPP2_HUMAN	D	489	ENSP00000365233:A489D;ENSP00000365220:A489D	ENSP00000365220:A489D	A	+	2	0	TPP2	102086010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.766000	0.55280	2.763000	0.94921	0.563000	0.77884	GCT		0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			69	343	1	0	7.07328e-35	1	8.4269e-35	69	343					A	103288009	C	A	103288009	3	1	79	1	0	0	0	0	1	0	0	0	16465	797	28	3	1512	3	TPP2	13	103288009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38547	103288009	11881869	14328	24645											
C13orf39	196541	broad.mit.edu	37	chr13	103338488	103338488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatctaaaaattcatagtCggtgctgaacctgaatttgt	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103338488C>T	ENST00000267273.6	-	4	693	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)	p.D230N(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433																																						ENST00000267273.6																			1	Substitution - Missense(1)	p.D230N(1)	large_intestine(1)	breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(688-690)Gac>Aac		methyltransferase like 21C							69	65	67					13																	103338488		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338488C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.688G>A	13.37:g.103338488C>T	ENSP00000267273:p.Asp230Asn						p.D230N	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	693	-			230						Missense_Mutation	SNP	ENST00000267273.6	37	c.688G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000631	0.93227	.	.	ENSG00000139780	ENST00000267273	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.31308	-0.9948	10	0.59425	D	0.04	-6.6016	19.7905	0.96454	0.0:1.0:0.0:0.0	.	230	Q5VZV1	MT21C_HUMAN	N	230	ENSP00000267273:D230N	ENSP00000267273:D230N	D	-	1	0	METTL21C	102136489	1.000000	0.71417	0.378000	0.26068	0.814000	0.46013	7.447000	0.80620	2.691000	0.91804	0.650000	0.86243	GAC		0.433	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		31	158	0	0	0	1	0	31	158					T	103338488	C	T	103338488	3	4	79	1	0	0	0	0	1	0	0	0	1737	884	31	1	110	1	C13orf39	13	103338488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50479	103338488	11831390	14329	24646											
KDELC1	79070	broad.mit.edu	37	chr13	103440220	103440220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataacagaatatgtcatcGcccatgagattatttcttgc	6	8	2	2	rs377423123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	449						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATATGTCATCGCCCATGAGAT	0.323																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1345-1347)ggC>ggT		KDEL (Lys-Asp-Glu-Leu) containing 1							108	101	103					13																	103440220		2202	4299	6501	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103440220G>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1347C>T	13.37:g.103440220G>A						KDELC1_ENST00000460338.1_5'UTR	p.G449G	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			8	1683	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		449					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.1347C>T	CCDS9504.1																																																																																				0.323	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			63	327	0	0	0	1	0	63	327					A	103440220	G	A	103440220	2	1	79	1	0	0	0	0	0	0	0	1	8147	1074	38	1		1	KDELC1	13	103440220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101732	103440220	11729658	14330	24647											
KDELC1	79070	broad.mit.edu	37	chr13	103441551	103441551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagctgctacagtgccatcGatatttatttgatacttatg	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	368						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTGCCATCGATATTTATTT	0.393																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1102-1104)atC>atT		KDEL (Lys-Asp-Glu-Leu) containing 1							89	87	87					13																	103441551		2203	4300	6503	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103441551G>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1104C>T	13.37:g.103441551G>A						KDELC1_ENST00000460338.1_5'UTR	p.I368I	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			7	1440	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		368					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.1104C>T	CCDS9504.1																																																																																				0.393	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			49	259	0	0	0	1	0	49	259					A	103441551	G	A	103441551	2	1	79	1	0	0	0	0	0	0	0	1	8147	1048	37	1		1	KDELC1	13	103441551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	103441551	11728327	14331	24648											
KDELC1	79070	broad.mit.edu	37	chr13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttagcccgggtccccaTatttcgctcttctccgggct	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	BIVM_ENST00000419638.1_5'Flank|BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGTCCCCATATTTCGCTCT	0.532																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(100-102)atA>atG		KDEL (Lys-Asp-Glu-Leu) containing 1							75	71	72					13																	103450919		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103450919T>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.102A>G	13.37:g.103450919T>C	ENSP00000365172:p.Ile34Met					KDELC1_ENST00000460338.1_5'UTR	p.I34M	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			1	438	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		34					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.102A>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011978	0.75046	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.32	4.14	0.48551	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.28001	0.0690	L	0.36672	1.1	0.32461	N	0.544094	B	0.20780	0.048	B	0.39185	0.293	T	0.41520	-0.9504	10	0.87932	D	0	.	10.5719	0.45204	0.0:0.0763:0.0:0.9237	.	34	Q6UW63	KDEL1_HUMAN	M	34	ENSP00000365172:I34M	ENSP00000365172:I34M	I	-	3	3	KDELC1	102248920	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.226000	0.17776	2.141000	0.66446	0.528000	0.53228	ATA		0.532	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			59	243	0	0	0	1	0	59	243					C	103450919	T	C	103450919	3	2	79	1	0	0	0	0	1	0	0	0	8147	1396	49	4	1446	4	KDELC1	13	103450919	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9368	103450919	11718959	14332	24649											
BIVM	54841	broad.mit.edu	37	chr13	103468879	103468879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgaagatattaaacagCggaaagtattagacctcaga	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103468879C>T	ENST00000257336.1	+	4	1259	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	BIVM_ENST00000419638.1_Missense_Mutation_p.R194W|BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.A165V	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	194						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTAAACAGCGGAAAGTATT	0.323																																						ENST00000602836.1																			0											c.(493-495)gCg>gTg									123	122	123					13																	103468879		2203	4299	6502	SO:0001583	missense	0				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103468879C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.580C>T	13.37:g.103468879C>T	ENSP00000257336:p.Arg194Trp					BIVM_ENST00000448849.2_5'UTR|BIVM_ENST00000257336.1_Missense_Mutation_p.R194W|BIVM_ENST00000419638.1_Missense_Mutation_p.R194W	p.A165V	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			2	494	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.494C>T	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624684	0.66901	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	2.11	0.27256	.	0.294049	0.34110	N	0.004242	T	0.75317	0.3833	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	T	0.75127	-0.3427	9	0.87932	D	0	.	11.9705	0.53062	0.4935:0.4042:0.1023:0.0	.	165;194	Q59FZ7;Q86UB2	.;BIVM_HUMAN	W	194;194;165	.	ENSP00000257336:R194W	R	+	1	2	ERCC5;BIVM	102266880	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	2.263000	0.43293	0.073000	0.16731	-0.284000	0.09977	CGG		0.323	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			14	450	0	0	0	1	0	14	450					T	103468879	C	T	103468879	3	4	79	1	0	0	0	0	1	0	0	0	1443	759	27	1	586	1	BIVM	13	103468879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17960	103468879	11700999	14333	24650											
ERCC5	2073	broad.mit.edu	37	chr13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcatttggttaaaccaagCacttaaaggagtccgggatc	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	38	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAACCAAGCACTTAAAGGA	0.378			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(112-114)gCa>gTa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							117	120	119					13																	103504492		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103504492C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.113C>T	13.37:g.103504492C>T	ENSP00000347978:p.Ala38Val					ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S	p.A38V	NM_000123.3	NP_000114.2					2	1536	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.113C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456982	0.43634	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39147	1.195	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.999	D;D;D	0.85130	0.928;0.95;0.997	T	0.71388	-0.4608	10	0.38643	T	0.18	-22.3169	19.1376	0.93435	0.0:1.0:0.0:0.0	.	38;38;463	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	463;38;38	ENSP00000347978:A38V;ENSP00000442117:A38V	ENSP00000347978:A38V	A	+	2	0	ERCC5	102302493	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.426000	0.80270	2.514000	0.84764	0.579000	0.79373	GCA		0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			43	299	0	0	0	1	0	43	299					T	103504492	C	T	103504492	3	4	79	1	0	0	0	0	1	0	0	0	5234	710	25	2	119	2	ERCC5	13	103504492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35613	103504492	11665386	14334	24651											
EFNB2	1948	broad.mit.edu	37	chr13	107145730	107145730	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggccacttcggaaccgagGatgttgttccccgaatgtcc	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	220					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGAACCGAGGATGTTGTTCC	0.532																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(658-660)atC>atA		ephrin-B2							129	99	109					13																	107145730		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145730G>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.660C>A	13.37:g.107145730G>T							p.I220I	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			5	809	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		220					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.660C>A	CCDS9507.1																																																																																				0.532	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		60	349	1	0	8.81991e-31	1	1.03612e-30	60	349					T	107145730	G	T	107145730	2	4	79	1	0	0	0	0	0	0	0	1	4972	1164	41	3		3	EFNB2	13	107145730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3641238	107145730	8024148	14335	24652											
ARGLU1	55082	broad.mit.edu	37	chr13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcttcctccacccttcGgagaacttctcgttcaattt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000472226.1_5'Flank|ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(475-477)Cga>Tga		arginine and glutamate rich 1							173	170	171					13																	107211878		1896	4124	6020	SO:0001587	stop_gained	55082							g.chr13:107211878G>A	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.475C>T	13.37:g.107211878G>A	ENSP00000383059:p.Arg159*					ARGLU1_ENST00000375926.1_Silent_p.S8S	p.R159*	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			2	719	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		159			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	Nonsense_Mutation	SNP	ENST00000400198.3	37	c.475C>T	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386779	0.98252	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	4.66	0.58398	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2596	16.3132	0.82904	0.0:0.1324:0.8676:0.0	.	.	.	.	X	159;109	.	ENSP00000383059:R159X	R	-	1	2	ARGLU1	106009879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	1.308000	0.44962	0.655000	0.94253	CGA		0.478	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		42	794	0	0	0	1	0	42	794					A	107211878	G	A	107211878	4	1	79	1	0	0	0	0	0	1	0	0	860	1124	39	1	358	1	ARGLU1	13	107211878	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66148	107211878	7958000	14336	24653											
FAM155A	728215	broad.mit.edu	37	chr13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaaaacaagagagatgCcagagacagtcgccatttct	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	43						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(127-129)Gca>Aca		family with sequence similarity 155, member A							145	155	152					13																	108518818		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518818C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.127G>A	13.37:g.108518818C>T	ENSP00000365080:p.Ala43Thr						p.A43T	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	265	-			43					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.127G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719839	0.89205	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	43	B1AL88	F155A_HUMAN	T	43	.	ENSP00000365080:A43T	A	-	1	0	FAM155A	107316819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.390000	0.81377	0.650000	0.86243	GCA		0.562	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		165	906	0	0	0	1	0	165	906					T	108518818	C	T	108518818	3	4	79	1	0	0	0	0	1	0	0	0	5486	739	26	2	1261	2	FAM155A	13	108518818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1306940	108518818	6651060	14337	24654											
LIG4	3981	broad.mit.edu	37	chr13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgctccatgaaaccgaAgctccaaggctttaatagct	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	845	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATGAAACCGAAGCTCCAAGGC	0.403								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2533-2535)cTt>cCt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							100	99	99					13																	108861083		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861083A>G	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2534T>C	13.37:g.108861083A>G	ENSP00000349393:p.Leu845Pro					LIG4_ENST00000442234.1_Missense_Mutation_p.L845P|LIG4_ENST00000405925.1_Missense_Mutation_p.L845P	p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2806	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		845			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2534T>C	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214628	0.79352	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.81499	-1.5;-1.5;-1.5	5.75	5.75	0.90469	BRCT (4);	0.193178	0.45606	D	0.000356	D	0.89136	0.6629	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90222	0.4272	10	0.72032	D	0.01	.	15.2891	0.73852	1.0:0.0:0.0:0.0	.	845	P49917	DNLI4_HUMAN	P	845	ENSP00000385955:L845P;ENSP00000402030:L845P;ENSP00000349393:L845P	ENSP00000349393:L845P	L	-	2	0	LIG4	107659084	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.652000	0.91083	2.209000	0.71365	0.462000	0.41574	CTT		0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		10	366	0	0	0	1	0	10	366					G	108861083	A	G	108861083	3	3	79	1	0	0	0	0	1	0	0	0	8815	72	3	4	205	4	LIG4	13	108861083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342265	108861083	6308795	14338	24655											
LIG4	3981	broad.mit.edu	37	chr13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctccaaggctttaataGctaaccttgtcccctcattt	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000405925.1_Missense_Mutation_p.A839D|LIG4_ENST00000442234.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	839	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGCTTTAATAGCTAACCTTGT	0.423								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2515-2517)gCt>gAt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							101	98	99					13																	108861101		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861101G>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2516C>A	13.37:g.108861101G>T	ENSP00000349393:p.Ala839Asp					LIG4_ENST00000442234.1_Missense_Mutation_p.A839D|LIG4_ENST00000405925.1_Missense_Mutation_p.A839D	p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2788	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		839			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2516C>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011445	0.07912	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61859	0.07;0.07;0.07	5.75	4.0	0.46444	BRCT (3);	0.685891	0.14801	N	0.297615	T	0.39733	0.1089	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	10	0.11485	T	0.65	.	5.5759	0.17222	0.075:0.1454:0.638:0.1415	.	839	P49917	DNLI4_HUMAN	D	839	ENSP00000385955:A839D;ENSP00000402030:A839D;ENSP00000349393:A839D	ENSP00000349393:A839D	A	-	2	0	LIG4	107659102	0.868000	0.29978	0.181000	0.23098	0.713000	0.41058	1.955000	0.40372	0.769000	0.33313	0.567000	0.79289	GCT		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		59	305	1	0	2.23044e-30	1	2.6157e-30	59	305					T	108861101	G	T	108861101	3	4	79	1	0	0	0	0	1	0	0	0	8815	971	34	3	223	3	LIG4	13	108861101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	108861101	6308777	14339	24656											
LIG4	3981	broad.mit.edu	37	chr13	108861894	108861894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcgtggaaaacgcaaggTgcagccagttttatacatat	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861894T>C	ENST00000356922.4	-	2	1995	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LIG4_ENST00000405925.1_Missense_Mutation_p.T575A|LIG4_ENST00000442234.1_Missense_Mutation_p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	575					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAACGCAAGGTGCAGCCAGTT	0.438								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1723-1725)Acc>Gcc	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							94	88	90					13																	108861894		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861894T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1723A>G	13.37:g.108861894T>C	ENSP00000349393:p.Thr575Ala					LIG4_ENST00000442234.1_Missense_Mutation_p.T575A|LIG4_ENST00000405925.1_Missense_Mutation_p.T575A	p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1995	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		575					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1723A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549948	0.65311	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61627	0.09;0.09;0.09	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.42487	1.325	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.67776	-0.5583	10	0.48119	T	0.1	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	575	P49917	DNLI4_HUMAN	A	575	ENSP00000385955:T575A;ENSP00000402030:T575A;ENSP00000349393:T575A	ENSP00000349393:T575A	T	-	1	0	LIG4	107659895	1.000000	0.71417	0.836000	0.33094	0.969000	0.65631	7.975000	0.88055	2.178000	0.69098	0.450000	0.29827	ACC		0.438	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		9	320	0	0	0	1	0	9	320					C	108861894	T	C	108861894	3	2	79	1	0	0	0	0	1	0	0	0	8815	1696	59	4	1016	4	LIG4	13	108861894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	793	108861894	6307984	14340	24657											
LIG4	3981	broad.mit.edu	37	chr13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgaaaaggcttccaAtacttggccaatttcaaacc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	525					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGCTTCCAATACTTGGCCA	0.428								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1573-1575)taT>taG	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							95	101	99					13																	108862042		2203	4300	6503	SO:0001587	stop_gained	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862042A>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1575T>G	13.37:g.108862042A>C	ENSP00000349393:p.Tyr525*					LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*	p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1847	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		525					Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	ENST00000356922.4	37	c.1575T>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727245	0.69074	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.28	-5.29	0.02747	.	0.202657	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.6139	0.99472	0.131:0.0:0.869:0.0	.	.	.	.	X	525	.	ENSP00000349393:Y525X	Y	-	3	2	LIG4	107660043	0.389000	0.25205	0.066000	0.19879	0.178000	0.23041	-0.339000	0.07832	-0.874000	0.04027	-0.421000	0.06004	TAT		0.428	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		101	512	0	0	0	1	0	101	512					C	108862042	A	C	108862042	4	2	79	1	0	0	0	0	0	1	0	0	8815	108	4	4	1164	4	LIG4	13	108862042	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	108862042	6307836	14341	24658											
LIG4	3981	broad.mit.edu	37	chr13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcttcaacacaaaaTatgcaatcattgcaaagtct	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C|LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	130					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAACACAAAATATGCAATCAT	0.373								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(388-390)tAt>tGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							125	132	130					13																	108863228		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863228T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.389A>G	13.37:g.108863228T>C	ENSP00000349393:p.Tyr130Cys					LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C|LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C	p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	661	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		130					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.389A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499143	0.64298	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	T	0.23833	-1.0177	10	0.39692	T	0.17	.	15.4025	0.74852	0.0:0.0:0.0:1.0	.	130	P49917	DNLI4_HUMAN	C	130	ENSP00000385955:Y130C;ENSP00000402030:Y130C;ENSP00000349393:Y130C	ENSP00000349393:Y130C	Y	-	2	0	LIG4	107661229	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.633000	0.83260	2.232000	0.73038	0.523000	0.50628	TAT		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		148	571	0	0	0	1	0	148	571					C	108863228	T	C	108863228	3	2	79	1	0	0	0	0	1	0	0	0	8815	1406	49	4	2350	4	LIG4	13	108863228	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1186	108863228	6306650	14342	24659											
ABHD13	84945	broad.mit.edu	37	chr13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgatacgatacactggaGacaattcaccctattcccca	5	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	109						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATACACTGGAGACAATTCACC	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(325-327)Gac>Aac		abhydrolase domain containing 13							80	75	76					13																	108881891		2203	4299	6502	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108881891G>A	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.325G>A	13.37:g.108881891G>A	ENSP00000365063:p.Asp109Asn						p.D109N	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	626	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		109					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.325G>A	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059846	0.36373	.	.	ENSG00000139826	ENST00000375898	T	0.19806	2.12	5.89	5.04	0.67666	.	0.103313	0.64402	D	0.000004	T	0.12092	0.0294	N	0.10874	0.06	0.52501	D	0.999955	B	0.19445	0.036	B	0.12837	0.008	T	0.13791	-1.0496	10	0.25106	T	0.35	-23.612	14.5609	0.68136	0.0711:0.0:0.9289:0.0	.	109	Q7L211	ABHDD_HUMAN	N	109	ENSP00000365063:D109N	ENSP00000365063:D109N	D	+	1	0	ABHD13	107679892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.788000	0.95919	0.557000	0.71058	GAC		0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		47	224	0	0	0	1	0	47	224					A	108881891	G	A	108881891	3	1	79	1	0	0	0	0	1	0	0	0	78	942	33	2	327	2	ABHD13	13	108881891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18663	108881891	6287987	14343	24660											
MYO16	23026	broad.mit.edu	37	chr13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacgatcttcccgtactgtCgagtaagctgtaagtgtctt	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000357550.2	+	8	1063	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	NM_001198950.1	NP_001185879.1			myosin XVI									p.S341L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTACTGTCGAGTAAGCTG	0.428																																						ENST00000356711.2																			1	Substitution - Missense(1)	p.S341L(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(1021-1023)tCg>tTg		myosin XVI							144	146	145					13																	109475617		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109475617C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1022C>T	13.37:g.109475617C>T	ENSP00000350160:p.Ser341Leu					MYO16_ENST00000357550.2_Missense_Mutation_p.S341L|MYO16_ENST00000251041.5_Missense_Mutation_p.S341L	p.S341L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		9	1148	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		341						Missense_Mutation	SNP	ENST00000357550.2	37	c.1022C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902418	0.33628	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80824	-1.42;-1.42;-1.17	5.35	5.35	0.76521	.	0.181955	0.26432	U	0.024419	T	0.75729	0.3889	L	0.57536	1.79	0.80722	D	1	P;B	0.37122	0.583;0.398	B;B	0.30401	0.115;0.062	T	0.75459	-0.3310	9	.	.	.	.	16.2063	0.82133	0.0:1.0:0.0:0.0	.	341;341	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	341;341;341;341;129	ENSP00000349145:S341L;ENSP00000350160:S341L;ENSP00000251041:S341L	.	S	+	2	0	MYO16	108273618	0.923000	0.31300	0.339000	0.25562	0.078000	0.17371	3.263000	0.51546	2.499000	0.84300	0.585000	0.79938	TCG		0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		115	552	0	0	0	1	0	115	552					T	109475617	C	T	109475617	3	4	79	1	0	0	0	0	1	0	0	0	10105	893	31	1	1052	1	MYO16	13	109475617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	593726	109475617	5694261	14344	24661											
MYO16	23026	broad.mit.edu	37	chr13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtttcaaaagaatgaAtttgaacaagtaagtagtct	9	3	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000357550.2	+	20	2408	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAAGAATGAATTTGAACAAG	0.308																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2365-2367)gaA>gaC		myosin XVI							126	121	123					13																	109644787		2201	4298	6499	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109644787A>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2367A>C	13.37:g.109644787A>C	ENSP00000350160:p.Glu789Asp					MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000357550.2_Missense_Mutation_p.E789D|MYO16_ENST00000251041.5_Missense_Mutation_p.E789D	p.E789D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		21	2493	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		789			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2367A>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877850	0.51801	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.12	-0.171	0.13331	Myosin head, motor domain (3);	0.438833	0.16942	U	0.193259	T	0.74749	0.3757	N	0.24115	0.695	0.27897	N	0.939132	P;P;P	0.39424	0.622;0.622;0.673	B;B;B	0.42738	0.275;0.217;0.396	T	0.65249	-0.6214	9	.	.	.	.	0.9351	0.01343	0.4462:0.1429:0.2545:0.1564	.	301;789;789	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	789;789;789;789;577;301	ENSP00000349145:E789D;ENSP00000350160:E789D;ENSP00000251041:E789D;ENSP00000401633:E301D	.	E	+	3	2	MYO16	108442788	0.970000	0.33590	0.996000	0.52242	0.995000	0.86356	-0.061000	0.11693	-0.246000	0.09611	0.460000	0.39030	GAA		0.308	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		39	144	0	0	0	1	0	39	144					C	109644787	A	C	109644787	3	2	79	1	0	0	0	0	1	0	0	0	10105	98	4	4	2445	4	MYO16	13	109644787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169170	109644787	5525091	14345	24662											
MYO16	23026	broad.mit.edu	37	chr13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagaaattacttccgagaCtcaagacagaaatgcaaata	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000357550.2	+	32	5206	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCCGAGACTCAAGACAGA	0.323																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5164-5166)aCt>aTt		myosin XVI							59	56	57					13																	109817315		2203	4299	6502	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109817315C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5165C>T	13.37:g.109817315C>T	ENSP00000350160:p.Thr1722Ile					MYO16_ENST00000357550.2_Missense_Mutation_p.T1722I|MYO16-AS1_ENST00000439299.1_RNA	p.T1722I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		33	5291	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1722						Missense_Mutation	SNP	ENST00000357550.2	37	c.5165C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745984	0.49151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80566	-1.39;-1.39	5.49	4.64	0.57946	.	0.000000	0.41823	U	0.000818	T	0.74921	0.3780	L	0.60455	1.87	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.70831	-0.4765	9	.	.	.	.	10.7029	0.45937	0.0:0.9123:0.0:0.0877	.	1722	Q9Y6X6	MYO16_HUMAN	I	1722	ENSP00000349145:T1722I;ENSP00000350160:T1722I	.	T	+	2	0	MYO16	108615316	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.983000	0.40648	2.579000	0.87056	0.557000	0.71058	ACT		0.323	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		23	115	0	0	0	1	0	23	115					T	109817315	C	T	109817315	3	4	79	1	0	0	0	0	1	0	0	0	10105	565	20	2	5291	2	MYO16	13	109817315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172528	109817315	5352563	14346	24663											
IRS2	8660	broad.mit.edu	37	chr13	110435097	110435097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcttcacgcccgacgTcgggctggccacgcgggcag	14	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	ENST00000375856.3	-	1	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1102					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCGACGTCGGGCTGGCC	0.701																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3304-3306)Acg>Gcg		insulin receptor substrate 2							5	7	6					13																	110435097		2058	4081	6139	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435097T>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3304A>G	13.37:g.110435097T>C	ENSP00000365016:p.Thr1102Ala						p.T1102A	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3818	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1102					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3304A>G	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607717	0.03717	.	.	ENSG00000185950	ENST00000375856	T	0.29917	1.55	3.92	2.74	0.32292	.	0.470757	0.18108	U	0.151454	T	0.19087	0.0458	L	0.38838	1.175	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.17379	-1.0371	10	0.27785	T	0.31	-7.5024	3.2026	0.06655	0.174:0.1998:0.0:0.6262	.	1102	Q9Y4H2	IRS2_HUMAN	A	1102	ENSP00000365016:T1102A	ENSP00000365016:T1102A	T	-	1	0	IRS2	109233098	0.984000	0.35163	0.116000	0.21606	0.048000	0.14542	0.719000	0.25881	0.579000	0.29504	0.524000	0.50904	ACG		0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		16	61	0	0	0	1	0	16	61					C	110435097	T	C	110435097	3	2	79	1	0	0	0	0	1	0	0	0	7871	1667	58	4	720	4	IRS2	13	110435097	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	617782	110435097	4734781	14347	24664											
IRS2	8660	broad.mit.edu	37	chr13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttgggagaggacgCggggcaggacgggcagaggc	21	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1852-1854)Gcg>Acg		insulin receptor substrate 2							15	18	17					13																	110436549		2183	4292	6475	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436549C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1852G>A	13.37:g.110436549C>T	ENSP00000365016:p.Ala618Thr						p.A618T	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2366	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	618					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1852G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	IRS2	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		8	81	0	0	0	1	0	8	81					T	110436549	C	T	110436549	3	4	79	1	0	0	0	0	1	0	0	0	7871	768	27	1	2172	1	IRS2	13	110436549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	110436549	4733329	14348	24665											
COL4A1	1282	broad.mit.edu	37	chr13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctccacactgtacctggCtgcccaggctgtcctgcctg	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	988	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGTACCTGGCTGCCCAGGCT	0.597																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2962-2964)caG>caT		collagen, type IV, alpha 1							51	50	50					13																	110828977		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110828977C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2964G>T	13.37:g.110828977C>A	ENSP00000364979:p.Gln988His						p.Q988H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		35	3085	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	988			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2964G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356882	0.24598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.77	2.26	0.28386	.	0.185825	0.47852	N	0.000214	D	0.88987	0.6587	L	0.41124	1.26	0.80722	D	1	B	0.32302	0.363	B	0.42882	0.401	T	0.79438	-0.1803	10	0.15066	T	0.55	.	4.4167	0.11459	0.311:0.485:0.0:0.204	.	988	P02462	CO4A1_HUMAN	H	631;988;637	ENSP00000364979:Q988H	ENSP00000364973:Q631H	Q	-	3	2	COL4A1	109626978	0.002000	0.14202	1.000000	0.80357	0.155000	0.21991	-1.685000	0.01930	0.803000	0.34113	-0.182000	0.12963	CAG		0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			41	238	1	0	1.59361e-14	1	1.73214e-14	41	238					A	110828977	C	A	110828977	3	1	79	1	0	0	0	0	1	0	0	0	3698	796	28	3	2117	3	COL4A1	13	110828977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392428	110828977	4340901	14349	24666											
COL4A1	1282	broad.mit.edu	37	chr13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagctaccttttgggcCtggctctcctcttggccccg	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	359	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGGCCTGGCTCTCCT	0.562																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1075-1077)Ggc>Tgc		collagen, type IV, alpha 1							98	85	90					13																	110853794		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110853794C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1075G>T	13.37:g.110853794C>A	ENSP00000364979:p.Gly359Cys					COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		19	1196	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	359			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1075G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461247	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99369	-5.53;-5.78	3.94	3.94	0.45596	.	0.073296	0.53938	D	0.000048	D	0.99588	0.9851	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97641	1.0148	10	0.87932	D	0	.	15.171	0.72872	0.0:1.0:0.0:0.0	.	359	P02462	CO4A1_HUMAN	C	348;359;359;359	ENSP00000364979:G359C;ENSP00000443348:G359C	ENSP00000364973:G348C	G	-	1	0	COL4A1	109651795	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.184000	0.65070	1.926000	0.55796	0.436000	0.28706	GGC		0.562	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			51	178	1	0	6.14515e-18	1	6.80267e-18	51	178					A	110853794	C	A	110853794	3	1	79	1	0	0	0	0	1	0	0	0	3698	681	24	3	4070	3	COL4A1	13	110853794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24817	110853794	4316084	14350	24667											
COL4A2	1284	broad.mit.edu	37	chr13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcctctgcaggtgacGctggggaatgcagatgtaca	12	12	1	2	rs561067393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	480	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTGACGCTGGGGAATG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19097	0.0		0.0	False		,,,				2504	0.002					ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1438-1440)Gct>Act		collagen, type IV, alpha 2							114	121	119					13																	111111123		2091	4226	6317	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111111123G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1438G>A	13.37:g.111111123G>A	ENSP00000353654:p.Ala480Thr					COL4A2-AS2_ENST00000458403.2_RNA	p.A480T	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		22	1744	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	480			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1438G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585683	0.13749	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.37	1.36	0.22044	.	0.568329	0.15913	N	0.238523	T	0.80019	0.4547	N	0.17474	0.49	0.80722	D	1	P	0.44429	0.835	B	0.35413	0.202	T	0.73228	-0.4049	10	0.10902	T	0.67	.	2.5355	0.04713	0.0888:0.271:0.2813:0.3589	.	480	P08572	CO4A2_HUMAN	T	480	ENSP00000353654:A480T	ENSP00000257309:A480T	A	+	1	0	COL4A2	109909124	0.000000	0.05858	0.006000	0.13384	0.094000	0.18550	-0.225000	0.09151	0.203000	0.20529	-0.182000	0.12963	GCT		0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		30	696	0	0	0	1	0	30	696					A	111111123	G	A	111111123	3	1	79	1	0	0	0	0	1	0	0	0	3699	1087	38	1	1520	1	COL4A2	13	111111123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257329	111111123	4058755	14351	24668											
COL4A2	1284	broad.mit.edu	37	chr13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtgacagacaggaggCcatccagccaggtactctgg	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	676	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGACAGGAGGCCATCCAGCCA	0.493																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2026-2028)gCc>gTc		collagen, type IV, alpha 2							130	132	131					13																	111118398		1984	4166	6150	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111118398C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2027C>T	13.37:g.111118398C>T	ENSP00000353654:p.Ala676Val						p.A676V	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		26	2333	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	676			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2027C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316553	0.05422	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91237	-2.81	4.67	-2.22	0.06952	.	2.146400	0.02982	N	0.145762	T	0.77605	0.4155	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66834	-0.5823	10	0.19590	T	0.45	.	5.4056	0.16320	0.0:0.2764:0.1621:0.5615	.	676	P08572	CO4A2_HUMAN	V	676	ENSP00000353654:A676V	ENSP00000257309:A676V	A	+	2	0	COL4A2	109916399	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.665000	0.01965	-0.142000	0.11354	-0.363000	0.07495	GCC		0.493	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		25	362	0	0	0	1	0	25	362					T	111118398	C	T	111118398	3	4	79	1	0	0	0	0	1	0	0	0	3699	739	26	2	2125	2	COL4A2	13	111118398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7275	111118398	4051480	14352	24669											
COL4A2	1284	broad.mit.edu	37	chr13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaccttccggccagccaGgcctgtatgggcctccagga	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	833	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCAGCCAGGCCTGTATGG	0.652																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2497-2499)Ggc>Tgc		collagen, type IV, alpha 2							22	25	24					13																	111130421		1867	4088	5955	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130421G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2497G>T	13.37:g.111130421G>T	ENSP00000353654:p.Gly833Cys						p.G833C	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2803	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	833			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2497G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740068	0.30865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	4.21	4.21	0.49690	.	0.000000	0.48286	D	0.000190	D	0.99813	0.9918	H	0.99444	4.57	0.54753	D	0.999987	D	0.56746	0.977	D	0.68353	0.957	D	0.96546	0.9404	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.0:1.0:0.0	.	833	P08572	CO4A2_HUMAN	C	833	ENSP00000353654:G833C	ENSP00000257309:G833C	G	+	1	0	COL4A2	109928422	1.000000	0.71417	0.187000	0.23214	0.413000	0.31143	6.597000	0.74118	2.072000	0.62099	0.499000	0.49734	GGC		0.652	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		40	148	1	0	6.19805e-25	1	7.1e-25	40	148					T	111130421	G	T	111130421	3	4	79	1	0	0	0	0	1	0	0	0	3699	1000	35	3	2611	3	COL4A2	13	111130421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12023	111130421	4039457	14353	24670											
COL4A2	1284	broad.mit.edu	37	chr13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagaggacttccgcgccAcaccattcatcgaatgcaat	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1653	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTTCCGCGCCACACCATTCAT	0.627																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4957-4959)Aca>Cca		collagen, type IV, alpha 2							61	69	66					13																	111164356		2125	4245	6370	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111164356A>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4957A>C	13.37:g.111164356A>C	ENSP00000353654:p.Thr1653Pro						p.T1653P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		48	5263	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1653			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4957A>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815592	0.50527	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94613	-3.47	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.53938	D	0.000060	D	0.97349	0.9133	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	14.5597	0.68126	1.0:0.0:0.0:0.0	.	1653	P08572	CO4A2_HUMAN	P	1653	ENSP00000353654:T1653P	ENSP00000257309:T1653P	T	+	1	0	COL4A2	109962357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.969000	0.76092	1.833000	0.53350	0.459000	0.35465	ACA		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		49	399	0	0	0	1	0	49	399					C	111164356	A	C	111164356	3	2	79	1	0	0	0	0	1	0	0	0	3699	159	6	4	5143	4	COL4A2	13	111164356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33935	111164356	4005522	14354	24671											
CARS2	79587	broad.mit.edu	37	chr13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtttggccgccttccacaGggcgaagtcactggcatgac	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	231					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(691-693)Ctg>Atg		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						53	56	55					13																	111329415		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111329415G>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.691C>A	13.37:g.111329415G>T	ENSP00000257347:p.Leu231Met					CARS2_ENST00000535398.1_5'UTR	p.L231M	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		7	754	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		231					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.691C>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294309	0.40594	.	.	ENSG00000134905	ENST00000257347	T	0.69435	-0.4	5.42	3.69	0.42338	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000004	D	0.85522	0.5716	H	0.95884	3.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	D	0.86316	0.1689	10	0.72032	D	0.01	-25.8936	9.4363	0.38641	0.2184:0.0:0.7816:0.0	.	231	Q9HA77	SYCM_HUMAN	M	231	ENSP00000257347:L231M	ENSP00000257347:L231M	L	-	1	2	CARS2	110127416	0.998000	0.40836	0.914000	0.36105	0.114000	0.19823	2.351000	0.44071	0.673000	0.31224	-0.299000	0.09455	CTG		0.617	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		66	245	1	0	6.00099e-30	1	7.02477e-30	66	245					T	111329415	G	T	111329415	3	4	79	1	0	0	0	0	1	0	0	0	2665	991	35	3	1039	3	CARS2	13	111329415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165059	111329415	3840463	14355	24672											
CARS2	79587	broad.mit.edu	37	chr13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccacgagcaatgattcCttcaatgaaagaaattatct	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	178					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(532-534)Gga>Aga		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						185	197	193					13																	111340107		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340107C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.532G>A	13.37:g.111340107C>T	ENSP00000257347:p.Gly178Arg					CARS2_ENST00000535398.1_5'UTR	p.G178R	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	595	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		178					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.532G>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157371	0.09236	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.26957	1.7	4.71	1.82	0.25136	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.607895	0.16732	N	0.201803	T	0.07413	0.0187	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36212	-0.9757	10	0.13108	T	0.6	-2.8229	4.1568	0.10265	0.0:0.3798:0.3475:0.2726	.	178	Q9HA77	SYCM_HUMAN	R	178;169	ENSP00000257347:G178R	ENSP00000257347:G178R	G	-	1	0	CARS2	110138108	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.014000	0.12656	0.445000	0.26639	0.557000	0.71058	GGA		0.403	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		258	1084	0	0	0	1	0	258	1084					T	111340107	C	T	111340107	3	4	79	1	0	0	0	0	1	0	0	0	2665	690	24	2	1206	2	CARS2	13	111340107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10692	111340107	3829771	14356	24673											
ING1	3621	broad.mit.edu	37	chr13	111366616	111366616	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctcgctgatgcgggagatCgacgcgaaataccaaggtac	13	10	1	2	rs201188640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111366616C>T	ENST00000375774.3	+	0	0				ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Silent_p.I40I|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCGGGAGATCGACGCGAAAT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		7862	0.001		0.0	False		,,,				2504	0.0					ENST00000333219.7																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(118-120)atC>atT		inhibitor of growth family, member 1							64	51	55					13																	111366616		2203	4300	6503	SO:0001631	upstream_gene_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111366616C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366616C>T	Exception_encountered					ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	p.I40I	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	992	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		0					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	c.120C>T	CCDS9517.1																																																																																				0.672	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		25	155	0	0	0	1	0	25	155					T	111366616	C	T	111366616	1	4	79	0	1	0	0	0	0	0	0	0	7765	874	31	1		1	ING1	13	111366616	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26509	111366616	3803262	14357	24674											
ING1	3621	broad.mit.edu	37	chr13	111368056	111368056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttggttctcctcctggcCtccgccctccaaatcggcga	10	16	1	0	rs370758745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	ENST00000375774.3	+	1	728	c.266C>A	c.(265-267)cCt>cAt	p.P89H	ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(265-267)cCt>cAt		inhibitor of growth family, member 1							48	44	45					13																	111368056		2193	4285	6478	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368056C>A		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.266C>A	13.37:g.111368056C>A	ENSP00000364929:p.Pro89His					ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron	p.P89H	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	728	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		89					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.266C>A	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363542	0.41902	.	.	ENSG00000153487	ENST00000375774	T	0.32272	1.46	4.02	3.15	0.36227	.	.	.	.	.	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.07385	-1.0775	9	0.87932	D	0	-7.4134	9.6479	0.39879	0.0:0.7866:0.2134:0.0	.	89	Q9UK53	ING1_HUMAN	H	89	ENSP00000364929:P89H	ENSP00000364929:P89H	P	+	2	0	ING1	110166057	0.005000	0.15991	0.744000	0.31058	0.493000	0.33554	0.680000	0.25306	1.003000	0.39130	0.561000	0.74099	CCT		0.697	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		15	57	1	0	2.61681e-11	1	2.78987e-11	15	57					A	111368056	C	A	111368056	3	1	79	1	0	0	0	0	1	0	0	0	7765	681	24	3	416	3	ING1	13	111368056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1440	111368056	3801822	14358	24675											
ARHGEF7	8874	broad.mit.edu	37	chr13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagactgtgctttcaacgTacctacggccattgcagacc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000375741.2	+	8	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	297	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)			GCTTTCAACGTACCTACGGCC	0.323																																						ENST00000375741.2																			0				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						c.(889-891)Tac>Cac		Rho guanine nucleotide exchange factor (GEF) 7							51	51	51					13																	111896285		2203	4298	6501	SO:0001583	missense	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.chr13:111896285T>C	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.889T>C	13.37:g.111896285T>C	ENSP00000364893:p.Tyr297His					ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H	p.Y297H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		8	1139	+	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)		297			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.889T>C	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076914	0.76415	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.82	4.82	0.62117	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	14.0484	0.64719	0.0:0.0:0.0:1.0	.	41;194;41;247;297;276	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	276;297;247;204;274;119;119;119;119;194;119;41	ENSP00000325994:Y276H;ENSP00000364893:Y297H;ENSP00000364891:Y247H;ENSP00000359657:Y204H;ENSP00000418067:Y119H;ENSP00000218789:Y119H;ENSP00000364888:Y119H;ENSP00000397068:Y119H;ENSP00000364889:Y194H;ENSP00000364875:Y119H;ENSP00000417596:Y41H	ENSP00000218789:Y119H	Y	+	1	0	ARHGEF7	110694286	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.585000	0.74062	1.787000	0.52448	0.383000	0.25322	TAC		0.323	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		36	149	0	0	0	1	0	36	149					C	111896285	T	C	111896285	3	2	79	1	0	0	0	0	1	0	0	0	911	1638	57	4	919	4	ARHGEF7	13	111896285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	528229	111896285	3273593	14359	24676											
ARHGEF7	8874	broad.mit.edu	37	chr13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctccacaagttttgcttCcagaagaagagaaaattata	7	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					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)			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)			AGTTTTGCTTCCAGAAGAAGA	0.353																																						ENST00000218789.5																			0				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						c.(1876-1878)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 7							79	96	91					13																	111953130		2203	4300	6503	SO:0001583	missense	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.chr13:111953130C>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	ENST00000218789.5:c.1876C>T	13.37:g.111953130C>T	ENSP00000218789:p.Pro626Ser					ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S	p.P626S			Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		19	2373	+	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)		398					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37	c.1876C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351760	0.82132	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.57595	0.58;0.39;0.59;0.59;0.62	5.25	5.25	0.73442	.	.	.	.	.	T	0.68952	0.3057	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66152	-0.5995	9	0.30854	T	0.27	.	18.8414	0.92186	0.0:1.0:0.0:0.0	.	642	B7Z6G2	.	S	652;626;567;567;642	ENSP00000359657:P652S;ENSP00000218789:P626S;ENSP00000364888:P567S;ENSP00000397068:P567S;ENSP00000364889:P642S	ENSP00000218789:P626S	P	+	1	0	ARHGEF7	110751131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.830000	0.75319	2.420000	0.82092	0.561000	0.74099	CCA		0.353	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		48	367	0	0	0	1	0	48	367					T	111953130	C	T	111953130	3	4	79	1	0	0	0	0	1	0	0	0	911	855	30	2	2530	2	ARHGEF7	13	111953130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56845	111953130	3216748	14360	24677											
C13orf16	121793	broad.mit.edu	37	chr13	111992248	111992248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttgattgtgatcatcGctggggccttcgtcatcacc	10	13	3	2	rs199521485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111992248G>A	ENST00000283547.1	+	4	337	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	70						integral component of membrane (GO:0016021)											TGTGATCATCGCTGGGGCCTT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		16749	0.001		0.0	False		,,,				2504	0.0					ENST00000283547.1																			0											c.(208-210)Gct>Act		testis expressed 29							247	226	233					13																	111992248		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111992248G>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.208G>A	13.37:g.111992248G>A	ENSP00000283547:p.Ala70Thr						p.A70T	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			4	337	+			70						Missense_Mutation	SNP	ENST00000283547.1	37	c.208G>A	CCDS9522.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.952	1.220466	0.22457	.	.	ENSG00000153495	ENST00000283547	.	.	.	4.09	0.877	0.19145	.	0.428883	0.17297	N	0.179417	T	0.15046	0.0363	N	0.20986	0.625	0.09310	N	1	P	0.50272	0.933	B	0.40864	0.342	T	0.10776	-1.0615	9	0.37606	T	0.19	-17.0228	2.0528	0.03574	0.1164:0.1713:0.4865:0.2257	.	70	Q8N6K0	CM016_HUMAN	T	70	.	ENSP00000283547:A70T	A	+	1	0	C13orf16	110790249	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.274000	0.18680	0.404000	0.25506	0.563000	0.77884	GCT		0.493	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		139	649	0	0	0	1	0	139	649					A	111992248	G	A	111992248	3	1	79	1	0	0	0	0	1	0	0	0	1724	1087	38	1	218	1	C13orf16	13	111992248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39118	111992248	3177630	14361	24678											
TUBGCP3	10426	broad.mit.edu	37	chr13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggactgtcaaactgtgCgttggtggctctgacagcgg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000462580.1_5'Flank|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A610T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAACTGTGCGTTGGTGGCT	0.537																																						ENST00000261965.3																			1	Substitution - Missense(1)	p.A610T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1828-1830)Gca>Aca		tubulin, gamma complex associated protein 3							120	120	120					13																	113174253		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113174253C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1828G>A	13.37:g.113174253C>T	ENSP00000261965:p.Ala610Thr					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			15	2014	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		610					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1828G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	TUBGCP3	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA		0.537	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		86	428	0	0	0	1	0	86	428					T	113174253	C	T	113174253	3	4	79	1	0	0	0	0	1	0	0	0	16821	768	27	1	927	1	TUBGCP3	13	113174253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1182005	113174253	1995625	14362	24679											
C13orf35	400165	broad.mit.edu	37	chr13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttaggatgaactcaccaGaggcgaggctctgcgttgct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557																																						ENST00000356049.1																			0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(13-15)Gag>Tag		chromosome 13 open reading frame 35							59	54	56					13																	113333706		2203	4300	6503	SO:0001587	stop_gained	400165							g.chr13:113333706G>T																												ENST00000356049.1:c.13G>T	13.37:g.113333706G>T	ENSP00000348337:p.Glu5*						p.E5*	NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	all cancers(43;0.201)		2	771	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		5						Nonsense_Mutation	SNP	ENST00000356049.1	37	c.13G>T	CCDS9526.1	.	.	.	.	.	.	.	.	.	.	G	38	6.663447	0.97743	.	.	ENSG00000197595	ENST00000356049	.	.	.	1.82	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0085	0.19559	0.0:0.3287:0.6713:0.0	.	.	.	.	X	5	.	ENSP00000348337:E5X	E	+	1	0	C13orf35	112381707	0.002000	0.14202	0.042000	0.18584	0.018000	0.09664	0.232000	0.17891	0.296000	0.22592	0.462000	0.41574	GAG		0.557	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2			32	154	1	0	1.26612e-14	1	1.37737e-14	32	154					T	113333706	G	T	113333706	4	4	79	1	0	0	0	0	0	1	0	0	1734	943	33	3	15	3	C13orf35	13	113333706	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159453	113333706	1836172	14363	24680											
ATP11A	23250	broad.mit.edu	37	chr13	113439559	113439559	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatacccagacaacaggatCgtctcgtccaaggtaacttg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(148-150)atC>atT		ATPase, class VI, type 11A							160	148	152					13																	113439559		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113439559C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.150C>T	13.37:g.113439559C>T						ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375630.2_Silent_p.I50I	p.I50I			P98196	AT11A_HUMAN			2	238	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	50					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.150C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404897	0.11754	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.63	0.03359	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.8484	0.24000	0.4604:0.3299:0.0:0.2097	.	.	.	.	L	25	.	.	S	+	2	0	ATP11A	112487560	0.684000	0.27642	0.737000	0.30932	0.497000	0.33675	-0.285000	0.08410	-0.864000	0.04078	-0.857000	0.03018	TCG		0.552	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		50	366	0	0	0	1	0	50	366					T	113439559	C	T	113439559	2	4	79	1	0	0	0	0	0	0	0	1	1120	874	31	1		1	ATP11A	13	113439559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105853	113439559	1730319	14364	24681											
ATP11A	23250	broad.mit.edu	37	chr13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaatcaaaatctcagaagCgatctgccgtggaaaagtaa	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	286					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTCAGAAGCGATCTGCCGT	0.458																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(856-858)Cga>Tga		ATPase, class VI, type 11A							98	96	97					13																	113478723		2203	4300	6503	SO:0001587	stop_gained	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113478723C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.856C>T	13.37:g.113478723C>T	ENSP00000420387:p.Arg286*					ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*	p.R286*			P98196	AT11A_HUMAN			10	944	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	286					Q5VXT2	Nonsense_Mutation	SNP	ENST00000487903.1	37	c.856C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427410	0.83667	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.77	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6097	0.28122	0.465:0.4582:0.0:0.0768	.	.	.	.	X	286	.	ENSP00000283558:R286X	R	+	1	2	ATP11A	112526724	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	1.787000	0.38704	0.102000	0.17638	0.455000	0.32223	CGA		0.458	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	285	0	0	0	1	0	18	285					T	113478723	C	T	113478723	4	4	79	1	0	0	0	0	0	1	0	0	1120	760	27	1	894	1	ATP11A	13	113478723	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39164	113478723	1691155	14365	24682											
ATP11A	23250	broad.mit.edu	37	chr13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccgagccagagtggagCgtaacgcagtggtgagagcc	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	600					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGAGTGGAGCGTAACGCAGT	0.532																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1798-1800)Cgt>Tgt		ATPase, class VI, type 11A							56	48	51					13																	113496682		2201	4297	6498	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113496682C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1798C>T	13.37:g.113496682C>T	ENSP00000420387:p.Arg600Cys					ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C	p.R600C			P98196	AT11A_HUMAN			17	1886	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	600					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1798C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588287	0.66105	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.241555	0.46758	D	0.000275	D	0.86435	0.5932	L	0.43598	1.365	0.80722	D	1	D;P;P	0.69078	0.997;0.951;0.918	P;P;P	0.58077	0.832;0.773;0.67	D	0.88191	0.2877	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	600;600;600	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	C	600;600;600;600;41	ENSP00000420387:R600C;ENSP00000364781:R600C;ENSP00000364796:R600C;ENSP00000283558:R600C	ENSP00000283558:R600C	R	+	1	0	ATP11A	112544683	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	7.093000	0.76937	2.421000	0.82119	0.563000	0.77884	CGT		0.532	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		14	41	0	0	0	1	0	14	41					T	113496682	C	T	113496682	3	4	79	1	0	0	0	0	1	0	0	0	1120	768	27	1	1864	1	ATP11A	13	113496682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17959	113496682	1673196	14366	24683											
MCF2L	23263	broad.mit.edu	37	chr13	113634067	113634067	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaactgcagggcgctcgaGgccaggtgagatacaatggg	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113634067G>T	ENST00000375608.3	+	3	227				MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R29M|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Missense_Mutation_p.R29M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGCGCTCGAGGCCAGGTGAG	0.677																																						ENST00000375601.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(85-87)aGg>aTg		MCF.2 cell line derived transforming sequence-like							20	26	24					13																	113634067		1567	3581	5148	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113634067G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.170-35010G>T	13.37:g.113634067G>T						MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R29M|MCF2L_ENST00000535094.2_Intron	p.R29M			O15068	MCF2L_HUMAN			1	413	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.86G>T		.	.	.	.	.	.	.	.	.	.	G	9.384	1.073736	0.20147	.	.	ENSG00000126217	ENST00000421756;ENST00000375601	T;T	0.35973	1.33;1.28	3.45	-1.86	0.07760	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	6	0.48119	T	0.1	.	0.3721	0.00381	0.3585:0.2131:0.2461:0.1822	.	.	.	.	M	29	ENSP00000397285:R29M;ENSP00000364751:R29M	ENSP00000364751:R29M	R	+	2	0	MCF2L	112682068	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.069000	0.11542	-0.348000	0.08286	-0.362000	0.07510	AGG		0.677	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			40	113	1	0	1.96642e-18	1	2.182e-18	40	113					T	113634067	G	T	113634067	1	4	79	0	1	0	0	0	0	0	0	0	9420	1000	35	3		3	MCF2L	13	113634067	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137385	113634067	1535811	14367	24684											
MCF2L	23263	broad.mit.edu	37	chr13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacctgcaggaggcgctgaGctccatcctgggcatcctga	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000375608.3	+	22	2454	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000397030.1_Missense_Mutation_p.S802I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2404-2406)aGc>aTc		MCF.2 cell line derived transforming sequence-like							82	66	71					13																	113740496		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113740496G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2396G>T	13.37:g.113740496G>T	ENSP00000364758:p.Ser799Ile					MCF2L_ENST00000375608.3_Missense_Mutation_p.S799I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I	p.S802I			O15068	MCF2L_HUMAN			21	2442	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	799			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2405G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986538|1.986538	0.35036|0.35036	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.67|4.67	3.8|3.8	0.43715|0.43715	.|Dbl homology (DH) domain (5);	.|0.220796	.|0.45361	.|D	.|0.000373	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.31294|0.31294	0.92|0.92	0.37373|0.37373	D|D	0.911736|0.911736	.|D;P;D;D;P;D	.|0.63046	.|0.972;0.933;0.992;0.985;0.817;0.978	.|B;B;P;P;B;P	.|0.54629	.|0.426;0.426;0.644;0.757;0.426;0.679	T|T	0.61855|0.61855	-0.6977|-0.6977	5|10	.|0.45353	.|T	.|0.12	.|.	7.5177|7.5177	0.27610|0.27610	0.1088:0.4278:0.4634:0.0|0.1088:0.4278:0.4634:0.0	.|.	.|767;769;826;731;767;799	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	D|I	429|799;799;826;802;769;773;773;775;767;767;610	.|ENSP00000364758:S799I;ENSP00000401422:S799I;ENSP00000364754:S826I;ENSP00000380225:S802I;ENSP00000440374:S769I;ENSP00000397285:S773I;ENSP00000364751:S773I;ENSP00000407722:S775I;ENSP00000405639:S767I;ENSP00000364747:S767I	.|ENSP00000364747:S767I	E|S	+|+	3|2	2|0	MCF2L|MCF2L	112788497|112788497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	4.451000|4.451000	0.60047|0.60047	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GAG|AGC		0.632	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			49	184	1	0	4.64027e-19	1	5.16652e-19	49	184					T	113740496	G	T	113740496	3	4	79	1	0	0	0	0	1	0	0	0	9420	971	34	3	2654	3	MCF2L	13	113740496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106429	113740496	1429382	14368	24685											
F10	2159	broad.mit.edu	37	chr13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcctgcctccccgagcGtgactgggccgagtccacgc	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCCCGAGCGTGACTGGGCC	0.642																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1036-1038)cGt>cAt		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						86	71	76					13																	113803401		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803401G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1037G>A	13.37:g.113803401G>A	ENSP00000364709:p.Arg346His					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.R346H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1075	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	346			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1037G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	F10	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT		0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			117	389	0	0	0	1	0	117	389					A	113803401	G	A	113803401	3	1	79	1	0	0	0	0	1	0	0	0	5354	1145	40	1	1067	1	F10	13	113803401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62905	113803401	1366477	14369	24686											
F10	2159	broad.mit.edu	37	chr13	113803648	113803648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgtcacccgcttcaaGgacacctacttcgtgacagg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	ENST00000375559.3	+	8	1322	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	428	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCCGCTTCAAGGACACCTACT	0.612																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1282-1284)aaG>aaT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						73	75	74					13																	113803648		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803648G>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1284G>T	13.37:g.113803648G>T	ENSP00000364709:p.Lys428Asn					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.K428N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1322	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	428			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1284G>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	6.471	0.454987	0.12283	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	5.38	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.513361	0.22091	N	0.064756	T	0.79311	0.4424	N	0.02103	-0.685	0.29479	N	0.856484	B	0.31274	0.317	B	0.40285	0.325	T	0.72836	-0.4172	10	0.72032	D	0.01	.	1.5405	0.02554	0.2537:0.1415:0.4593:0.1455	.	428	P00742	FA10_HUMAN	N	428	ENSP00000364709:K428N	ENSP00000364709:K428N	K	+	3	2	F10	112851649	0.934000	0.31675	0.083000	0.20561	0.005000	0.04900	0.753000	0.26376	0.177000	0.19895	-0.175000	0.13238	AAG		0.612	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			22	434	1	0	8.04996e-18	1	8.90737e-18	22	434					T	113803648	G	T	113803648	3	4	79	1	0	0	0	0	1	0	0	0	5354	991	35	3	1314	3	F10	13	113803648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	113803648	1366230	14370	24687											
F10	2159	broad.mit.edu	37	chr13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaaaaccaggggcttgcCcaaggccaagagccatgccc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375559.3	+	8	1453	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	472					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGGGGCTTGCCCAAGGCCAAG	0.582																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1414-1416)cCc>cAc		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						111	95	101					13																	113803779		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803779C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1415C>A	13.37:g.113803779C>A	ENSP00000364709:p.Pro472His					F10_ENST00000375551.3_3'UTR	p.P472H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1453	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	472					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1415C>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189142	0.21954	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	2.37	2.37	0.29283	.	2.443350	0.01620	N	0.022984	D	0.89206	0.6649	L	0.46157	1.445	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.73572	-0.3940	9	.	.	.	.	8.3325	0.32195	0.0:1.0:0.0:0.0	.	472	P00742	FA10_HUMAN	H	472	ENSP00000364709:P472H	.	P	+	2	0	F10	112851780	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	0.876000	0.28092	1.626000	0.50381	0.561000	0.74099	CCC		0.582	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			71	432	1	0	2.0493e-37	1	2.46103e-37	71	432					A	113803779	C	A	113803779	3	1	79	1	0	0	0	0	1	0	0	0	5354	623	22	3	1445	3	F10	13	113803779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	113803779	1366099	14371	24688											
PROZ	8858	broad.mit.edu	37	chr13	113813025	113813025	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtcctggtcctcgccctCcatcgtgtggagccctcagg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000375547.2	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000342783.4_Silent_p.L17L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	17					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(49-51)ctC>ctT		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						123	77	93					13																	113813025		2203	4300	6503	SO:0001819	synonymous_variant	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113813025C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.51C>T	13.37:g.113813025C>T						PROZ_ENST00000375547.2_Silent_p.L17L	p.L17L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		1	58	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	17					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	37	c.51C>T	CCDS9531.1																																																																																				0.602	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		10	52	0	0	0	1	0	10	52					T	113813025	C	T	113813025	2	4	79	1	0	0	0	0	0	0	0	1	12609	842	30	2		2	PROZ	13	113813025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9246	113813025	1356853	14372	24689											
LAMP1	3916	broad.mit.edu	37	chr13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgccaacggctccctgCgagcgctgcaggccacagtc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	326	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGGCTCCCTGCGAGCGCTGCA	0.602																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(976-978)Cga>Tga		lysosomal-associated membrane protein 1							71	80	77					13																	113975904		2009	4176	6185	SO:0001587	stop_gained	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975904C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.976C>T	13.37:g.113975904C>T	ENSP00000333298:p.Arg326*					LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	p.R326*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		8	1170	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	326			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Nonsense_Mutation	SNP	ENST00000332556.4	37	c.976C>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864919	0.91511	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	.	.	.	5.27	1.3	0.21679	.	0.404542	0.29040	N	0.013330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-29.2117	12.9598	0.58451	0.61:0.39:0.0:0.0	.	.	.	.	X	326;273	.	ENSP00000333298:R326X	R	+	1	2	LAMP1	113023905	0.997000	0.39634	0.629000	0.29254	0.001000	0.01503	1.837000	0.39201	0.004000	0.14682	-1.748000	0.00681	CGA		0.602	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			81	542	0	0	0	1	0	81	542					T	113975904	C	T	113975904	4	4	79	1	0	0	0	0	0	1	0	0	8648	760	27	1	1006	1	LAMP1	13	113975904	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162879	113975904	1193974	14373	24690											
GRTP1	79774	broad.mit.edu	37	chr13	113980393	113980393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaggcccagcatggcCgggctgtagtaatctgccag	13	12	3	0	rs201875292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375431.4	-	6	650	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000326039.3_Silent_p.P114P|GRTP1_ENST00000375430.4_Silent_p.P192P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	192	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		11329	0.001		0.0	False		,,,				2504	0.0					ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(574-576)ccG>ccA		growth hormone regulated TBC protein 1		C		0,4406		0,0,2203	35	45	42		576	-9.4	0	13		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRTP1	NM_024719.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		192/337	113980393	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79774					intracellular	Rab GTPase activator activity	g.chr13:113980393C>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.576G>A	13.37:g.113980393C>T						GRTP1_ENST00000375431.4_Silent_p.P192P|GRTP1_ENST00000326039.3_Silent_p.P114P	p.P192P			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		6	622	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	192			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	ENST00000375431.4	37	c.576G>A	CCDS9534.2																																																																																				0.632	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		41	381	0	0	0	1	0	41	381					T	113980393	C	T	113980393	2	4	79	1	0	0	0	0	0	0	0	1	6840	639	23	1		1	GRTP1	13	113980393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	113980393	1189485	14374	24691											
TMCO3	55002	broad.mit.edu	37	chr13	114156189	114156189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttcaggactaaatagTattaaggtaagaacaaaatt	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	313						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(937-939)agT>agC		transmembrane and coiled-coil domains 3							115	112	113					13																	114156189		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114156189T>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.939T>C	13.37:g.114156189T>C						TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	p.S313S	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		5	1298	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	313					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.939T>C	CCDS9537.1																																																																																				0.343	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		85	312	0	0	0	1	0	85	312					C	114156189	T	C	114156189	2	2	79	1	0	0	0	0	0	0	0	1	16049	1635	57	4		4	TMCO3	13	114156189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175796	114156189	1013689	14375	24692											
TFDP1	7027	broad.mit.edu	37	chr13	114288234	114288234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaacataagacggcgCgtctacgatgccttaaacgt	9	10	1	2	rs374253994		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	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;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(502-504)cgC>cgT		transcription factor Dp-1		C		0,4406		0,0,2203	113	107	109		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114288234C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	13.37:g.114288234C>T		TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	p.R168R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	716	+	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;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	168					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.504C>T	CCDS9538.1																																																																																				0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		70	424	0	0	0	1	0	70	424					T	114288234	C	T	114288234	2	4	79	1	0	0	0	0	0	0	0	1	15849	755	27	1		1	TFDP1	13	114288234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132045	114288234	881644	14376	24693											
GRK1	6011	broad.mit.edu	37	chr13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctctggaaagacatcgaGgactatgacacggcagacaa	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	93	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)			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)			AAGACATCGAGGACTATGACA	0.587																																						ENST00000335678.6																			0				ovary(2)	2						c.(277-279)gaG>gaT		G protein-coupled receptor kinase 1							51	56	55					13																	114321980		2039	4188	6227	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.chr13:114321980G>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.279G>T	13.37:g.114321980G>T	ENSP00000334876:p.Glu93Asp						p.E93D	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		1	511	+	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)	93			N-terminal.|RGS.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	G	14.58	2.578195	0.45902	.	.	ENSG00000185974	ENST00000335678	T	0.02369	4.32	5.25	4.39	0.52855	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.44807	D	0.997813	D	0.76494	0.999	D	0.85130	0.997	T	0.32295	-0.9912	9	0.21014	T	0.42	-56.5093	8.6131	0.33815	0.1752:0.0:0.8248:0.0	.	93	Q15835	RK_HUMAN	D	93	ENSP00000334876:E93D	ENSP00000334876:E93D	E	+	3	2	GRK1	113369981	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.632000	0.37102	2.438000	0.82558	0.561000	0.74099	GAG		0.587	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		45	270	1	0	2.24722e-20	1	2.51766e-20	45	270					T	114321980	G	T	114321980	3	4	79	1	0	0	0	0	1	0	0	0	6820	991	35	3	281	3	GRK1	13	114321980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33746	114321980	847898	14377	24694											
GAS6	2621	broad.mit.edu	37	chr13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggcggatgtgagccaCgacttctacttcccaggttg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000327773.6	-	13	1674	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	553	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1657-1659)Gtg>Atg		growth arrest-specific 6							102	87	92					13																	114526473		2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114526473C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1528G>A	13.37:g.114526473C>T	ENSP00000331831:p.Val510Met					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6_ENST00000327773.6_Missense_Mutation_p.V510M	p.V553M			Q14393	GAS6_HUMAN			13	1809	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	553			Laminin G-like 2.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1657G>A	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750267	0.15778	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.87	-3.2	0.05156	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58538	0.2129	L	0.33485	1.01	0.09310	N	1	P;B;B	0.35575	0.51;0.118;0.143	B;B;B	0.17722	0.019;0.012;0.006	T	0.42832	-0.9428	9	0.54805	T	0.06	-5.1945	8.0893	0.30790	0.0:0.1474:0.1382:0.7144	.	553;237;510	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	553;456;237;211;510	ENSP00000349962:V553M;ENSP00000348003:V456M;ENSP00000416498:V237M;ENSP00000400117:V211M;ENSP00000331831:V510M	ENSP00000331831:V510M	V	-	1	0	GAS6	113587470	0.050000	0.20438	0.001000	0.08648	0.008000	0.06430	0.133000	0.15912	-0.685000	0.05177	-0.140000	0.14226	GTG		0.607	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		57	370	0	0	0	1	0	57	370					T	114526473	C	T	114526473	3	4	79	1	0	0	0	0	1	0	0	0	6277	536	19	1	520	1	GAS6	13	114526473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204493	114526473	643405	14378	24695											
GAS6	2621	broad.mit.edu	37	chr13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgtgttcactttcaccGtttcctggatggtggtgtct	10	11	3	0	rs202234400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000327773.6	-	12	1528	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	504	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1510-1512)aCg>aTg		growth arrest-specific 6		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	183	140	155		1382,563,485	3.5	0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/679,188/406,162/380	114530064	1,13005	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114530064G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1382C>T	13.37:g.114530064G>A	ENSP00000331831:p.Thr461Met					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6_ENST00000327773.6_Missense_Mutation_p.T461M	p.T504M			Q14393	GAS6_HUMAN			12	1663	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	504			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1511C>T	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516076	0.27123	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.91011	-2.77;-2.36;-2.09;-2.1;-2.77	4.55	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.72479	2.2	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.60949	0.881;0.619;0.653	D	0.92439	0.5960	9	0.48119	T	0.1	-19.8378	11.4483	0.50136	0.1599:0.0:0.8401:0.0	.	504;188;461	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	504;407;188;162;461	ENSP00000349962:T504M;ENSP00000348003:T407M;ENSP00000416498:T188M;ENSP00000400117:T162M;ENSP00000331831:T461M	ENSP00000331831:T461M	T	-	2	0	GAS6	113583879	1.000000	0.71417	0.041000	0.18516	0.008000	0.06430	5.680000	0.68168	2.067000	0.61834	0.462000	0.41574	ACG		0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		62	325	0	0	0	1	0	62	325					A	114530064	G	A	114530064	3	1	79	1	0	0	0	0	1	0	0	0	6277	1145	40	1	670	1	GAS6	13	114530064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	114530064	639814	14379	24696											
GAS6	2621	broad.mit.edu	37	chr13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaagtccccggccaccGcgattttcatgacagcatcc	9	15	1	1	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000327773.6	-	11	1357	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	447	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1339-1341)gCg>gTg		growth arrest-specific 6			VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127	115	119		1211,392,314	4.1	0.5	13	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	64,64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	404/679,131/406,105/380	114531617	2,13004	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114531617G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1211C>T	13.37:g.114531617G>A	ENSP00000331831:p.Ala404Val					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6_ENST00000327773.6_Missense_Mutation_p.A404V	p.A447V			Q14393	GAS6_HUMAN			11	1492	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	447			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1340C>T	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.862531	0.32884	2.27E-4	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.72630	0.3484	M	0.76838	2.35	0.58432	D	0.999999	P;P;D	0.63046	0.592;0.821;0.992	B;B;B	0.40565	0.041;0.187;0.333	T	0.74542	-0.3631	9	0.39692	T	0.17	-30.638	13.2677	0.60144	0.0772:0.0:0.9228:0.0	.	447;131;404	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	447;350;131;105;404	ENSP00000349962:A447V;ENSP00000348003:A350V;ENSP00000416498:A131V;ENSP00000400117:A105V;ENSP00000331831:A404V	ENSP00000331831:A404V	A	-	2	0	GAS6	113582326	1.000000	0.71417	0.483000	0.27378	0.588000	0.36517	6.843000	0.75384	1.076000	0.40961	0.550000	0.68814	GCG		0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		74	315	0	0	0	1	0	74	315					A	114531617	G	A	114531617	3	1	79	1	0	0	0	0	1	0	0	0	6277	1087	38	1	845	1	GAS6	13	114531617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553	114531617	638261	14380	24697											
GAS6	2621	broad.mit.edu	37	chr13	114541118	114541118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctacccggcttgttgtgGcagatctggaggcagccccc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000327773.6	-	6	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000357389.3_Silent_p.C171C|GAS6_ENST00000450766.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(511-513)tgC>tgT		growth arrest-specific 6							111	101	105					13																	114541118		2203	4299	6502	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114541118G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.513C>T	13.37:g.114541118G>A						GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000327773.6_Silent_p.C171C	p.C171C			Q14393	GAS6_HUMAN			6	665	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	171			EGF-like 2; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.513C>T	CCDS45072.1																																																																																				0.622	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		62	428	0	0	0	1	0	62	428					A	114541118	G	A	114541118	2	1	79	1	0	0	0	0	0	0	0	1	6277	1195	42	2		2	GAS6	13	114541118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9501	114541118	628760	14381	24698											
RASA3	22821	broad.mit.edu	37	chr13	114795310	114795310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcgagcttgtggcagacGaccccagtgtctgtgatgac	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000334062.7	-	5	547	c.426C>T	c.(424-426)gtC>gtT	p.V142V	RASA3_ENST00000542651.1_Missense_Mutation_p.R111C|RASA3_ENST00000389544.4_Silent_p.V110V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	142	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTGGCAGACGACCCCAGTGT	0.622																																						ENST00000542651.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(331-333)Cgt>Tgt		RAS p21 protein activator 3							120	71	88					13																	114795310		2200	4297	6497	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114795310G>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.426C>T	13.37:g.114795310G>A						RASA3_ENST00000334062.7_Silent_p.V142V|RASA3_ENST00000389544.4_Silent_p.V110V	p.R111C			Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		4	393	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	0					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.331C>T	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275872	0.40294	.	.	ENSG00000185989	ENST00000542651	T	0.18810	2.19	4.5	-1.6	0.08426	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.27189	N	0.960467	.	.	.	.	.	.	T	0.34153	-0.9840	5	.	.	.	.	5.8744	0.18820	0.4508:0.0:0.427:0.1222	.	.	.	.	C	111	ENSP00000439008:R111C	.	R	-	1	0	RASA3	113813412	0.459000	0.25768	0.061000	0.19648	0.857000	0.48899	0.095000	0.15127	-0.728000	0.04882	-0.221000	0.12465	CGT		0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		5	35	0	0	0	1	0	5	35					A	114795310	G	A	114795310	2	1	79	1	0	0	0	0	0	0	0	1	13112	1045	37	1		1	RASA3	13	114795310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254192	114795310	374568	14382	24699											
CDC16	8881	broad.mit.edu	37	chr13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctccagaagaaccccagGacatctattggttggctcag	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000356221.3	+	3	223	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR			Q13042	CDC16_HUMAN	cell division cycle 16	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAACCCCAGGACATCTATTG	0.413																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(115-117)Gac>Tac		cell division cycle 16							129	129	129					13																	115002285		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115002285G>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.115G>T	13.37:g.115002285G>T	ENSP00000348554:p.Asp39Tyr					CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000356221.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375310.1_5'UTR	p.D39Y	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		3	313	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	39					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.115G>T	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126752	0.56721	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.35973	1.28;1.28;1.28	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.992;0.989	T	0.70019	-0.4987	9	.	.	.	-6.0586	18.4048	0.90532	0.0:0.0:1.0:0.0	.	39;38;38;39	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	Y	39;39;38	ENSP00000353549:D39Y;ENSP00000348554:D39Y;ENSP00000252457:D38Y	.	D	+	1	0	CDC16	114020387	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.425000	0.90270	2.824000	0.97209	0.655000	0.94253	GAC		0.413	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		100	485	1	0	1.41717e-37	1	1.7028e-37	100	485					T	115002285	G	T	115002285	3	4	79	1	0	0	0	0	1	0	0	0	3067	1174	41	3	125	3	CDC16	13	115002285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206975	115002285	167593	14383	24700											
UPF3A	65110	broad.mit.edu	37	chr13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgcaaggcagaaggttCggggactggtcctgagaaga	16	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	465					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1393-1395)tCg>tTg		UPF3 regulator of nonsense transcripts homolog A (yeast)							35	36	36					13																	115070355		2203	4296	6499	SO:0001583	missense	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115070355C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1394C>T	13.37:g.115070355C>T	ENSP00000364448:p.Ser465Leu					UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L|UPF3A_ENST00000475218.2_3'UTR	p.S465L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	10	1450	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	465					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	c.1394C>T	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802184	0.31869	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.77620	-1.11;-1.11	3.47	2.56	0.30785	.	2.138080	0.03144	N	0.166950	T	0.68366	0.2993	L	0.38175	1.15	0.09310	N	1	B;B	0.26081	0.059;0.141	B;B	0.17098	0.011;0.017	T	0.51164	-0.8740	9	.	.	.	.	6.2334	0.20750	0.1828:0.7158:0.0:0.1015	.	432;465	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	L	465;432;197	ENSP00000364448:S465L;ENSP00000329592:S432L	.	S	+	2	0	UPF3A	114088457	0.004000	0.15560	0.001000	0.08648	0.066000	0.16364	0.321000	0.19558	0.707000	0.31934	0.563000	0.77884	TCG		0.602	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			47	168	0	0	0	1	0	47	168					T	115070355	C	T	115070355	3	4	79	1	0	0	0	0	1	0	0	0	17059	893	31	1	1432	1	UPF3A	13	115070355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68070	115070355	99523	14384	24701											
ZNF828	283489	broad.mit.edu	37	chr13	115090319	115090319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcatcatcaggaccttgGaagccagctaaacctgctcc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115090319G>A	ENST00000361283.1	+	3	1311	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	334	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CAGGACCTTGGAAGCCAGCTA	0.547																																						ENST00000361283.1																			0											c.(1000-1002)tgG>tgA		chromosome alignment maintaining phosphoprotein 1							111	104	107					13																	115090319		2203	4300	6503	SO:0001587	stop_gained	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090319G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1002G>A	13.37:g.115090319G>A	ENSP00000354730:p.Trp334*						p.W334*	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1311	+			334			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Nonsense_Mutation	SNP	ENST00000361283.1	37	c.1002G>A	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	38	7.096602	0.98059	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2647	20.3325	0.98724	0.0:0.0:1.0:0.0	.	.	.	.	X	334	.	.	W	+	3	0	ZNF828	114108421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.575000	0.36493	2.805000	0.96524	0.655000	0.94253	TGG		0.547	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		79	299	0	0	0	1	0	79	299					A	115090319	G	A	115090319	4	1	79	1	0	0	0	0	0	1	0	0	18234	1183	41	2	1004	2	ZNF828	13	115090319	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19964	115090319	79559	14385	24702											
OR11H12	440153	broad.mit.edu	37	chr14	19377733	19377733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcttctcactctttaCtacaacatatgcactgacta	2	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	ENST00000550708.1	+	1	212	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTCTTTACTACAACATAT	0.423																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(139-141)aCt>aTt		olfactory receptor, family 11, subfamily H, member 12							57	63	61					14																	19377733		2192	4293	6485	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377733C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.140C>T	14.37:g.19377733C>T	ENSP00000449002:p.Thr47Ile						p.T47I	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	212	+	all_cancers(95;0.00108)		47						Missense_Mutation	SNP	ENST00000550708.1	37	c.140C>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	4.775	0.144168	0.09134	.	.	ENSG00000257115	ENST00000550708	T	0.00569	6.52	.	.	.	.	0.818440	0.10176	N	0.706451	T	0.00384	0.0012	N	0.20483	0.58	0.24248	N	0.995334	B	0.20261	0.043	B	0.15484	0.013	T	0.43686	-0.9376	8	0.66056	D	0.02	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	47	B2RN74	O11HC_HUMAN	I	47	ENSP00000449002:T47I	ENSP00000449002:T47I	T	+	2	0	CR383656.1	18447733	0.000000	0.05858	0.814000	0.32528	0.065000	0.16274	-0.124000	0.10595	0.413000	0.25759	0.064000	0.15345	ACT		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		54	451	0	0	0	1	0	54	451					T	19377733	C	T	19377733	3	4	79	1	0	0	0	0	1	0	0	0	10969	565	20	2	142	2	OR11H12	14	19377733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19377733	87971807	14386	24703											
POTEG	404785	broad.mit.edu	37	chr14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaacagatgctaaaAgtctcttctgaaaacagcaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1099-1101)aaA>aaC		POTE ankyrin domain family, member G							84	98	93					14																	19566057		1508	2699	4207	SO:0001583	missense	404785							g.chr14:19566057A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1101A>C	14.37:g.19566057A>C	ENSP00000386971:p.Lys367Asn					CTD-2311B13.5_ENST00000548748.1_lincRNA	p.K367N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			6	1153	+			367					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1101A>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.416102	0.25552	.	.	ENSG00000222036	ENST00000409832	T	0.16897	2.31	2.2	-1.92	0.07618	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.48362	1.52	0.09310	N	1	B	0.21147	0.052	B	0.24541	0.054	T	0.34750	-0.9816	9	0.39692	T	0.17	.	5.1066	0.14787	0.3344:0.0:0.0:0.6656	.	367	Q6S5H5	POTEG_HUMAN	N	367	ENSP00000386971:K367N	ENSP00000386971:K367N	K	+	3	2	POTEG	18636057	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	-0.002000	0.14469	0.155000	0.16302	AAA		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		36	519	0	0	0	1	0	36	519					C	19566057	A	C	19566057	3	2	79	1	0	0	0	0	1	0	0	0	12308	69	3	4	1123	4	POTEG	14	19566057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188324	19566057	87783483	14387	24704											
OR4Q3	441669	broad.mit.edu	37	chr14	20215653	20215653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatcatcttcttgggagCtgcagctatttctcttctta	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(67-69)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							156	158	157					14																	20215653		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215653C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.67C>T	14.37:g.20215653C>T							p.L23L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	67	+	all_cancers(95;0.00108)		23					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.67C>T	CCDS32020.1																																																																																				0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			89	649	0	0	0	1	0	89	649					T	20215653	C	T	20215653	2	4	79	1	0	0	0	0	0	0	0	1	11123	796	28	2		2	OR4Q3	14	20215653	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649596	20215653	87133887	14388	24705											
OR4Q3	441669	broad.mit.edu	37	chr14	20216181	20216181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctatgtggtagaggtgCtggtgatagccaacagtggt	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTAGAGGTGCTGGTGATAGC	0.498																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(595-597)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							210	164	179					14																	20216181		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216181C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.595C>T	14.37:g.20216181C>T							p.L199L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	595	+	all_cancers(95;0.00108)		199					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.595C>T	CCDS32020.1																																																																																				0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			19	383	0	0	0	1	0	19	383					T	20216181	C	T	20216181	2	4	79	1	0	0	0	0	0	0	0	1	11123	796	28	2		2	OR4Q3	14	20216181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	20216181	87133359	14389	24706											
OR4Q3	441669	broad.mit.edu	37	chr14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagggccagaacaagGtcttctctacctgtgcttct	9	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(709-711)Gtc>Atc		olfactory receptor, family 4, subfamily Q, member 3							166	151	156					14																	20216295		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216295G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.709G>A	14.37:g.20216295G>A	ENSP00000330049:p.Val237Ile						p.V237I	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	709	+	all_cancers(95;0.00108)		237					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.709G>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807218	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.00202	8.56	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.182095	0.25798	U	0.028227	T	0.00178	0.0005	L	0.31578	0.945	0.09310	N	0.999998	B	0.27166	0.17	B	0.32022	0.139	T	0.48896	-0.8994	10	0.87932	D	0	.	13.8562	0.63529	0.0:0.0:1.0:0.0	.	237	Q8NH05	OR4Q3_HUMAN	I	237	ENSP00000330049:V237I	ENSP00000330049:V237I	V	+	1	0	OR4Q3	19286135	0.986000	0.35501	0.967000	0.41034	0.006000	0.05464	3.452000	0.52971	2.106000	0.64143	0.509000	0.49947	GTC		0.483	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			62	581	0	0	0	1	0	62	581					A	20216295	G	A	20216295	3	1	79	1	0	0	0	0	1	0	0	0	11123	1261	44	2	711	2	OR4Q3	14	20216295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	20216295	87133245	14390	24707											
OR4M1	441670	broad.mit.edu	37	chr14	20248580	20248580	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgttatatttctatcCttctatttgttcatcctacc	2	10	3	0	rs546810415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413													.|||	1	0.000199681	0.0	0.0	5008	,	,		25304	0.001		0.0	False		,,,				2504	0.0					ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(97-99)tcC>tcA		olfactory receptor, family 4, subfamily M, member 1							200	216	210					14																	20248580		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248580C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.99C>A	14.37:g.20248580C>A							p.S33S	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	180	+	all_cancers(95;0.00108)		33					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.99C>A	CCDS32021.1																																																																																				0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			185	1343	1	0	2.68655e-49	1	3.32282e-49	185	1343					A	20248580	C	A	20248580	2	1	79	1	0	0	0	0	0	0	0	1	11117	668	24	3		3	OR4M1	14	20248580	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32285	20248580	87100960	14391	24708											
OR4M1	441670	broad.mit.edu	37	chr14	20249045	20249045	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacaggttgtccggattgcCtgtgccaacaccttcccaga	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(562-564)gcC>gcA		olfactory receptor, family 4, subfamily M, member 1							300	265	277					14																	20249045		2203	4297	6500	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249045C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.564C>A	14.37:g.20249045C>A							p.A188A	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	645	+	all_cancers(95;0.00108)		188					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.564C>A	CCDS32021.1																																																																																				0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			186	1152	1	0	4.61678e-68	1	5.85161e-68	186	1152					A	20249045	C	A	20249045	2	1	79	1	0	0	0	0	0	0	0	1	11117	668	24	3		3	OR4M1	14	20249045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	465	20249045	87100495	14392	24709											
OR4N2	390429	broad.mit.edu	37	chr14	20296207	20296207	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggtggagcttctgatggtCttcaacagtggcctgatgac	14	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296207C>A	ENST00000315947.1	+	1	600	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGATGGTCTTCAACAGTG	0.512																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(598-600)gtC>gtA		olfactory receptor, family 4, subfamily N, member 2							144	143	143					14																	20296207		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296207C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.600C>A	14.37:g.20296207C>A						OR4N2_ENST00000568211.1_3'UTR	p.V200V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	600	+	all_cancers(95;0.00108)		200					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.600C>A	CCDS32022.1																																																																																				0.512	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			22	884	1	0	3.62473e-10	1	3.83521e-10	22	884					A	20296207	C	A	20296207	2	1	79	1	0	0	0	0	0	0	0	1	11119	900	32	3		3	OR4N2	14	20296207	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47162	20296207	87053333	14393	24710											
OR4N2	390429	broad.mit.edu	37	chr14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggtgtttaataagcAcatagcctgaaaaagggcgc	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTAATAAGCACATAGCCTGA	0.343																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(913-915)cAc>cGc		olfactory receptor, family 4, subfamily N, member 2							23	25	24					14																	20296521		2187	4226	6413	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296521A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.914A>G	14.37:g.20296521A>G	ENSP00000319601:p.His305Arg					OR4N2_ENST00000568211.1_3'UTR	p.H305R	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	914	+	all_cancers(95;0.00108)		305					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.914A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289193	0.10513	.	.	ENSG00000176294	ENST00000315947	T	0.00001	9.91	4.57	2.05	0.26809	.	0.281551	0.25566	N	0.029790	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.01192	-1.1423	10	0.22706	T	0.39	.	6.2231	0.20693	0.674:0.1664:0.0:0.1596	.	305	Q8NGD1	OR4N2_HUMAN	R	305	ENSP00000319601:H305R	ENSP00000319601:H305R	H	+	2	0	OR4N2	19366361	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.702000	0.37836	0.301000	0.22738	0.482000	0.46254	CAC		0.343	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			35	206	0	0	0	1	0	35	206					G	20296521	A	G	20296521	3	3	79	1	0	0	0	0	1	0	0	0	11119	159	6	4	916	4	OR4N2	14	20296521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314	20296521	87053019	14394	24711											
OR4K5	79317	broad.mit.edu	37	chr14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtggtcatcatgagccgaagGacatgcactgtcttggtaat	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGCCGAAGGACATGCACTG	0.453																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(415-417)agG>agT		olfactory receptor, family 4, subfamily K, member 5							241	238	239					14																	20389182		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389182G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.417G>T	14.37:g.20389182G>T	ENSP00000319511:p.Arg139Ser						p.R139S	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	442	+	all_cancers(95;0.00108)		139					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.417G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189108	0.09547	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.41	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	0.544994	0.16027	N	0.233039	T	0.28300	0.0699	L	0.55213	1.73	0.09310	N	1	B	0.21452	0.056	B	0.24974	0.057	T	0.27938	-1.0059	10	0.59425	D	0.04	.	0.8276	0.01124	0.4045:0.1219:0.2264:0.2472	.	139	Q8NGD3	OR4K5_HUMAN	S	139	ENSP00000319511:R139S	ENSP00000319511:R139S	R	+	3	2	OR4K5	19459022	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-2.953000	0.00676	-0.847000	0.04168	-0.137000	0.14449	AGG		0.453	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		196	1335	1	0	1.15629e-50	1	1.43295e-50	196	1335					T	20389182	G	T	20389182	3	4	79	1	0	0	0	0	1	0	0	0	11115	1165	41	3	419	3	OR4K5	14	20389182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92661	20389182	86960358	14395	24712											
OR4K1	79544	broad.mit.edu	37	chr14	20404104	20404104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgagcgcaagactatctcCtttgagggttgcatggccca	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404104C>A	ENST00000285600.4	+	1	338	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily K, member 1							154	158	156					14																	20404104		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404104C>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.279C>A	14.37:g.20404104C>A							p.S93S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	338	+	all_cancers(95;0.00108)		93					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.279C>A	CCDS32025.1																																																																																				0.403	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			98	757	1	0	2.65435e-51	1	3.29351e-51	98	757					A	20404104	C	A	20404104	2	1	79	1	0	0	0	0	0	0	0	1	11109	668	24	3		3	OR4K1	14	20404104	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14922	20404104	86945436	14396	24713											
OR4K1	79544	broad.mit.edu	37	chr14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatatgacagatttataGccatatgtaagcctctgcac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(373-375)Gcc>Tcc		olfactory receptor, family 4, subfamily K, member 1							136	130	132					14																	20404198		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404198G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.373G>T	14.37:g.20404198G>T	ENSP00000285600:p.Ala125Ser						p.A125S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	432	+	all_cancers(95;0.00108)		125					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.373G>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.936499	0.73442	.	.	ENSG00000155249	ENST00000285600	T	0.01209	5.17	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.15089	0.0364	H	0.98786	4.33	0.38505	D	0.948311	D	0.89917	1.0	D	0.91635	0.999	T	0.30416	-0.9979	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	125	Q8NGD4	OR4K1_HUMAN	S	125	ENSP00000285600:A125S	ENSP00000285600:A125S	A	+	1	0	OR4K1	19474038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.825000	0.75293	2.557000	0.86248	0.655000	0.94253	GCC		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			77	641	1	0	3.86735e-44	1	4.73008e-44	77	641					T	20404198	G	T	20404198	3	4	79	1	0	0	0	0	1	0	0	0	11109	971	34	3	375	3	OR4K1	14	20404198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	20404198	86945342	14397	24714											
OR4K14	122740	broad.mit.edu	37	chr14	20482665	20482665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatgtgctaccggcagCacgctgtctgatagcgagga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20482665C>T	ENST00000305045.2	-	1	687	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTACCGGCAGCACGCTGTCTG	0.493																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(688-690)Gct>Act		olfactory receptor, family 4, subfamily K, member 14							96	79	85					14																	20482665		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482665C>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.688G>A	14.37:g.20482665C>T	ENSP00000305011:p.Ala230Thr						p.A230T	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	687	-	all_cancers(95;0.00108)		230					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.688G>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	6.804	0.517319	0.13005	.	.	ENSG00000169484	ENST00000305045	T	0.35789	1.29	4.04	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15451	N	0.261671	T	0.17577	0.0422	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.13872	-1.0493	10	0.59425	D	0.04	.	3.1463	0.06473	0.4265:0.3728:0.0:0.2007	.	230	Q8NGD5	OR4KE_HUMAN	T	230	ENSP00000305011:A230T	ENSP00000305011:A230T	A	-	1	0	OR4K14	19552505	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-1.249000	0.02888	0.864000	0.35578	0.505000	0.49811	GCT		0.493	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			6	175	0	0	0	1	0	6	175					T	20482665	C	T	20482665	3	4	79	1	0	0	0	0	1	0	0	0	11111	710	25	2	247	2	OR4K14	14	20482665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78467	20482665	86866875	14398	24715											
OR4K14	122740	broad.mit.edu	37	chr14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatttgagccatacatcCtccaaaggagatgagttttt	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(289-291)Gga>Tga		olfactory receptor, family 4, subfamily K, member 14							105	98	100					14																	20483064		2203	4300	6503	SO:0001587	stop_gained	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483064C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.289G>T	14.37:g.20483064C>A	ENSP00000305011:p.Gly97*						p.G97*	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	288	-	all_cancers(95;0.00108)		97					Q6IEU1|Q96R71	Nonsense_Mutation	SNP	ENST00000305045.2	37	c.289G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.412246	0.83340	.	.	ENSG00000169484	ENST00000305045	.	.	.	4.04	4.04	0.47022	.	0.000000	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000305011:G97X	G	-	1	0	OR4K14	19552904	0.007000	0.16637	1.000000	0.80357	0.915000	0.54546	2.340000	0.43974	2.086000	0.62901	0.505000	0.49811	GGA		0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			43	229	1	0	6.21074e-16	1	6.80439e-16	43	229					A	20483064	C	A	20483064	4	1	79	1	0	0	0	0	0	1	0	0	11111	690	24	3	646	3	OR4K14	14	20483064	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	20483064	86866476	14399	24716											
OR11G2	390439	broad.mit.edu	37	chr14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagacgtctctgtaccaatCttgtggtcaattgctgggta	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTACCAATCTTGTGGTCAA	0.443																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(544-546)Ctt>Att		olfactory receptor, family 11, subfamily G, member 2							112	94	100					14																	20666038		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666038C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.544C>A	14.37:g.20666038C>A	ENSP00000349930:p.Leu182Ile						p.L182I	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	544	+	all_cancers(95;0.00108)		182					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.544C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308375	0.23821	.	.	ENSG00000196832	ENST00000357366	T	0.39056	1.1	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000814	T	0.65165	0.2665	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.60342	-0.7282	10	0.62326	D	0.03	.	10.6449	0.45615	0.0:0.9109:0.0:0.0891	.	182	Q8NGC1	O11G2_HUMAN	I	182	ENSP00000349930:L182I	ENSP00000349930:L182I	L	+	1	0	OR11G2	19735878	0.001000	0.12720	0.099000	0.21106	0.002000	0.02628	-0.184000	0.09698	2.565000	0.86533	0.650000	0.86243	CTT		0.443	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			46	271	1	0	6.08268e-21	1	6.83416e-21	46	271					A	20666038	C	A	20666038	3	1	79	1	0	0	0	0	1	0	0	0	10967	913	32	3	546	3	OR11G2	14	20666038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182974	20666038	86683502	14400	24717											
OR11G2	390439	broad.mit.edu	37	chr14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctcttcattgtggggtCctatgctctggtcgtgagag	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTGTGGGGTCCTATGCTCTG	0.498																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(763-765)tCc>tTc		olfactory receptor, family 11, subfamily G, member 2							200	198	198					14																	20666258		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666258C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.764C>T	14.37:g.20666258C>T	ENSP00000349930:p.Ser255Phe						p.S255F	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	764	+	all_cancers(95;0.00108)		255					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.764C>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442884	0.63067	.	.	ENSG00000196832	ENST00000357366	T	0.42513	0.97	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.145321	0.31747	N	0.007129	T	0.63271	0.2497	H	0.94808	3.585	0.28100	N	0.931451	P	0.40909	0.732	P	0.47470	0.548	T	0.67945	-0.5539	10	0.87932	D	0	.	12.1995	0.54317	0.1708:0.8292:0.0:0.0	.	255	Q8NGC1	O11G2_HUMAN	F	255	ENSP00000349930:S255F	ENSP00000349930:S255F	S	+	2	0	OR11G2	19736098	1.000000	0.71417	0.925000	0.36789	0.786000	0.44442	7.118000	0.77137	2.565000	0.86533	0.650000	0.86243	TCC		0.498	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			175	881	0	0	0	1	0	175	881					T	20666258	C	T	20666258	3	4	79	1	0	0	0	0	1	0	0	0	10967	855	30	2	766	2	OR11G2	14	20666258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	20666258	86683282	14401	24718											
OR11H6	122748	broad.mit.edu	37	chr14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattcttaaatccccttaTctatagtcttcgaaacaaag	3	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATCCCCTTATCTATAGTCTT	0.408																																						ENST00000315519.2																			1	Substitution - Missense(1)	p.I307N(1)	liver(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(919-921)aTc>aCc		olfactory receptor, family 11, subfamily H, member 6							98	101	100					14																	20692788		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692788T>C		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.920T>C	14.37:g.20692788T>C	ENSP00000319071:p.Ile307Thr						p.I307T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	998	+	all_cancers(95;0.00108)		307					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.920T>C	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164991	0.38217	.	.	ENSG00000176219	ENST00000315519	T	0.57273	0.41	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.73410	0.3583	H	0.96916	3.905	0.38505	D	0.948328	P	0.45672	0.864	P	0.48770	0.589	D	0.83968	0.0325	10	0.87932	D	0	.	12.6958	0.57003	0.0:0.0:0.0:1.0	.	307	Q8NGC7	O11H6_HUMAN	T	307	ENSP00000319071:I307T	ENSP00000319071:I307T	I	+	2	0	OR11H6	19762628	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	7.402000	0.79972	2.094000	0.63399	0.386000	0.25728	ATC		0.408	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			128	471	0	0	0	1	0	128	471					C	20692788	T	C	20692788	3	2	79	1	0	0	0	0	1	0	0	0	10971	1435	50	4	922	4	OR11H6	14	20692788	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26530	20692788	86656752	14402	24719											
TTC5	91875	broad.mit.edu	37	chr14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcttcagtgtcagtcCgcagctgacgaagcaccatt	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	150					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGTGTCAGTCCGCAGCTGACG	0.502																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(448-450)cGg>cAg		tetratricopeptide repeat domain 5							156	125	136					14																	20767555		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20767555C>T	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.449G>A	14.37:g.20767555C>T	ENSP00000258821:p.Arg150Gln						p.R150Q	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	4	505	-	all_cancers(95;0.00092)		150					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.449G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534768	0.27475	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.89	1.0	0.19881	Tetratricopeptide-like helical (1);	0.201780	0.44902	N	0.000412	T	0.14270	0.0345	N	0.15975	0.35	0.28403	N	0.918559	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.12766	T	0.61	.	9.0259	0.36230	0.0:0.6849:0.0:0.3151	.	150	Q8N0Z6	TTC5_HUMAN	Q	150	ENSP00000258821:R150Q	ENSP00000258821:R150Q	R	-	2	0	TTC5	19837395	0.991000	0.36638	0.502000	0.27614	0.937000	0.57800	2.490000	0.45294	0.083000	0.17047	-0.127000	0.14921	CGG		0.502	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		26	330	0	0	0	1	0	26	330					T	20767555	C	T	20767555	3	4	79	1	0	0	0	0	1	0	0	0	16765	652	23	1	901	1	TTC5	14	20767555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74767	20767555	86581985	14403	24720											
TTC5	91875	broad.mit.edu	37	chr14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactacttcttccatctgCtgtagggttttctccatctc	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	55					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTTCCATCTGCTGTAGGGTTT	0.473																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(163-165)caG>caT		tetratricopeptide repeat domain 5							250	193	212					14																	20770011		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20770011C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.165G>T	14.37:g.20770011C>A	ENSP00000258821:p.Gln55His						p.Q55H	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	2	221	-	all_cancers(95;0.00092)		55					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.165G>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.565085|1.565085	0.27915|0.27915	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821;ENST00000553828	.|T	.|0.32272	.|1.46	4.44|4.44	0.638|0.638	0.17742|0.17742	.|Tetratricopeptide-like helical (1);	.|0.349613	.|0.31279	.|N	.|0.007923	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.19112|0.19112	0.55|0.55	0.28962|0.28962	N|N	0.889745|0.889745	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.48119	.|T	.|0.1	.|.	1.72|1.72	0.02909|0.02909	0.1481:0.4512:0.1449:0.2559|0.1481:0.4512:0.1449:0.2559	.|.	.|55	.|Q8N0Z6	.|TTC5_HUMAN	S|H	55|55;6	.|ENSP00000258821:Q55H	.|ENSP00000258821:Q55H	A|Q	-|-	1|3	0|2	TTC5|TTC5	19839851|19839851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.827000|0.827000	0.27421|0.27421	0.520000|0.520000	0.28426|0.28426	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		32	367	1	0	6.97489e-18	1	7.71847e-18	32	367					A	20770011	C	A	20770011	3	1	79	1	0	0	0	0	1	0	0	0	16765	796	28	3	1193	3	TTC5	14	20770011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2456	20770011	86579529	14404	24721											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgagagcaggcagtgAcccatgcatagccagagagt	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	25					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(73-75)gTc>gCc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							114	102	106					14																	20784609		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20784609A>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"human enhancer of invasion 10"	608249	"chromosome 14 open reading frame 18", "cyclin B1 interacting protein 1"	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.74T>C	14.37:g.20784609A>G	ENSP00000381235:p.Val25Ala					CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A	p.V25A			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	5	690	-	all_cancers(95;0.00092)	all_lung(585;0.235)	25						Missense_Mutation	SNP	ENST00000398169.3	37	c.74T>C	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	35	5.475759	0.96291	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	L	0.48642	1.525	0.53005	D	0.999965	D	0.64830	0.994	P	0.60541	0.876	D	0.94325	0.7557	10	0.87932	D	0	-18.525	15.6114	0.76721	1.0:0.0:0.0:0.0	.	25	Q9NPC3	CIP1_HUMAN	A	25;25;25;25;25;25;25;56	ENSP00000381226:V25A;ENSP00000381235:V25A;ENSP00000351810:V25A;ENSP00000337396:V25A;ENSP00000409896:V25A;ENSP00000381229:V25A;ENSP00000452486:V25A	ENSP00000337396:V25A	V	-	2	0	CCNB1IP1	19854449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.326000	0.78906	0.533000	0.62120	GTC		0.473	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		43	248	0	0	0	1	0	43	248					G	20784609	A	G	20784609	3	3	79	1	0	0	0	0	1	0	0	0	2921	275	10	4	771	4	CCNB1IP1	14	20784609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14598	20784609	86564931	14405	24722											
PARP2	10038	broad.mit.edu	37	chr14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatccagatggttatAccctcaactacaatgaatat	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGTTATACCCTCAACTA	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1657-1659)Acc>Gcc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							116	111	113					14																	20825861		1882	4122	6004	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825861A>G	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1657A>G	14.37:g.20825861A>G	ENSP00000250416:p.Thr553Ala					PARP2_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	p.T553A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1684	+	all_cancers(95;0.00092)	all_lung(585;0.235)	553			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1657A>G	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872388	0.33069	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04809	3.55;3.55	5.65	4.52	0.55395	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.028;0.282	B;B	0.24006	0.008;0.05	T	0.47355	-0.9124	10	0.29301	T	0.29	-16.6007	10.6316	0.45541	0.9247:0.0:0.0753:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	540;553	ENSP00000392972:T540A;ENSP00000250416:T553A	ENSP00000250416:T553A	T	+	1	0	PARP2	19895701	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.408000	0.59761	1.166000	0.42689	0.533000	0.62120	ACC		0.408	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			77	408	0	0	0	1	0	77	408					G	20825861	A	G	20825861	3	3	79	1	0	0	0	0	1	0	0	0	11503	391	14	4	1719	4	PARP2	14	20825861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41252	20825861	86523679	14406	24723											
TEP1	7011	broad.mit.edu	37	chr14	20841224	20841224	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagattagttccccagcttgAtttccagatactgccatgga	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000262715.5	-	48	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCAGCTTGATTTCCAGATA	0.517																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6895-6897)aaT>aaC		telomerase-associated protein 1							77	76	76					14																	20841224		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841224A>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6897T>C	14.37:g.20841224A>G						TEP1_ENST00000545983.1_Silent_p.N637N|TEP1_ENST00000556935.1_Silent_p.N2191N	p.N2299N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6937	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2299					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6897T>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	8.398	0.841223	0.16891	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	2.15	0.27550	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.27235	N	0.959305	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.6531	5.7984	0.18399	0.6254:0.0:0.3746:0.0	.	.	.	.	P	6	.	.	S	-	1	0	TEP1	19911064	0.199000	0.23386	0.366000	0.25914	0.978000	0.69477	0.583000	0.23849	0.469000	0.27268	-0.250000	0.11733	TCA		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		68	326	0	0	0	1	0	68	326					G	20841224	A	G	20841224	2	3	79	1	0	0	0	0	0	0	0	1	15811	330	12	4		4	TEP1	14	20841224	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15363	20841224	86508316	14407	24724											
TEP1	7011	broad.mit.edu	37	chr14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagtggatgccataacCgtgtggccccatctagcccg	11	14	1	1	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000262715.5	-	46	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6661-6663)cGg>cAg		telomerase-associated protein 1		C	GLN/ARG	0,4406		0,0,2203	75	67	70		6662	3.4	1	14	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TEP1	NM_007110.4	43	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	2221/2628	20841685	5,13001	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841685C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6662G>A	14.37:g.20841685C>T	ENSP00000262715:p.Arg2221Gln					TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q|TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q	p.R2221Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	46	6702	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2221					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6662G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305268	0.40795	0.0	5.81E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	1.89;1.89;0.1	5.25	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411730	0.25307	N	0.031618	T	0.35799	0.0944	N	0.19112	0.55	0.27025	N	0.964372	B;B;B;B	0.31125	0.09;0.309;0.266;0.206	B;B;B;B	0.23852	0.008;0.049;0.027;0.022	T	0.15780	-1.0425	10	0.33940	T	0.23	-14.7572	7.4458	0.27211	0.0:0.7966:0.0:0.2034	.	559;2113;1564;2221	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2221;2221;2113;559	ENSP00000262715:R2221Q;ENSP00000452574:R2113Q;ENSP00000438849:R559Q	ENSP00000262715:R2221Q	R	-	2	0	TEP1	19911525	0.415000	0.25416	0.993000	0.49108	0.927000	0.56198	0.585000	0.23879	0.593000	0.29745	0.655000	0.94253	CGG		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		44	189	0	0	0	1	0	44	189					T	20841685	C	T	20841685	3	4	79	1	0	0	0	0	1	0	0	0	15811	652	23	1	1261	1	TEP1	14	20841685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	20841685	86507855	14408	24725											
TEP1	7011	broad.mit.edu	37	chr14	20841723	20841723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacggttaccaccagaagCtctgacccaggctgtccagc	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000262715.5	-	46	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2208					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCAGAAGCTCTGACCCAG	0.572																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6622-6624)gaG>gaA		telomerase-associated protein 1							74	69	70					14																	20841723		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841723C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6624G>A	14.37:g.20841723C>T						TEP1_ENST00000545983.1_Silent_p.E546E|TEP1_ENST00000556935.1_Silent_p.E2100E	p.E2208E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	46	6664	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2208					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6624G>A	CCDS9548.1																																																																																				0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	235	0	0	0	1	0	17	235					T	20841723	C	T	20841723	2	4	79	1	0	0	0	0	0	0	0	1	15811	796	28	2		2	TEP1	14	20841723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	20841723	86507817	14409	24726											
TEP1	7011	broad.mit.edu	37	chr14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttactcaccagtaggttatCtttggtccaggcacagccag	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000262715.5	-	43	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N|TEP1_ENST00000545983.1_Missense_Mutation_p.D456N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2118					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTAGGTTATCTTTGGTCCAG	0.582																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6352-6354)Gat>Aat		telomerase-associated protein 1							56	56	56					14																	20843925		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20843925C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6352G>A	14.37:g.20843925C>T	ENSP00000262715:p.Asp2118Asn					TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N	p.D2118N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	43	6392	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2118					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6352G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492157	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.18;2.18;-1.45	5.62	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219026	0.46145	N	0.000317	T	0.80788	0.4690	L	0.33339	1.005	0.38011	D	0.934544	D;B;D;B	0.60575	0.988;0.291;0.985;0.339	P;B;P;B	0.58266	0.836;0.177;0.802;0.168	T	0.81852	-0.0742	10	0.39692	T	0.17	-13.3143	11.8809	0.52576	0.0:0.9179:0.0:0.0821	.	456;2010;1461;2118	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	N	2118;2118;2010;456	ENSP00000262715:D2118N;ENSP00000452574:D2010N;ENSP00000438849:D456N	ENSP00000262715:D2118N	D	-	1	0	TEP1	19913765	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	1.942000	0.40243	1.380000	0.46344	0.563000	0.77884	GAT		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		33	161	0	0	0	1	0	33	161					T	20843925	C	T	20843925	3	4	79	1	0	0	0	0	1	0	0	0	15811	913	32	2	1583	2	TEP1	14	20843925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	20843925	86505615	14410	24727											
TEP1	7011	broad.mit.edu	37	chr14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtccccttcggtagtgtcCgccacacactcagcactccg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000262715.5	-	30	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTAGTGTCCGCCACACACT	0.597																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4315-4317)cGg>cAg		telomerase-associated protein 1							137	112	121					14																	20850180		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20850180C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4316G>A	14.37:g.20850180C>T	ENSP00000262715:p.Arg1439Gln					TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q	p.R1439Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	30	4356	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1439			NACHT.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.4316G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131068	0.21041	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.47177	0.89;0.85	5.22	-1.1	0.09872	.	1.168410	0.06032	N	0.653340	T	0.32823	0.0842	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.23490	0.086;0.009;0.052	B;B;B	0.12837	0.008;0.005;0.003	T	0.16630	-1.0396	10	0.22706	T	0.39	-6.439	0.6813	0.00875	0.1717:0.3262:0.1566:0.3455	.	1331;782;1439	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1439;1439;1331	ENSP00000262715:R1439Q;ENSP00000452574:R1331Q	ENSP00000262715:R1439Q	R	-	2	0	TEP1	19920020	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	-0.892000	0.04131	-0.080000	0.12685	0.462000	0.41574	CGG		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		55	272	0	0	0	1	0	55	272					T	20850180	C	T	20850180	3	4	79	1	0	0	0	0	1	0	0	0	15811	652	23	1	3671	1	TEP1	14	20850180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6255	20850180	86499360	14411	24728											
TEP1	7011	broad.mit.edu	37	chr14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattggccacattccggaCgttcagctgctgcctggcat	11	12	1	0	rs144854568	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000262715.5	-	5	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	301	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACATTCCGGACGTTCAGCTGC	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(901-903)Gtc>Atc		telomerase-associated protein 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67	62	64		901	-8	0	14	dbSNP_134	64	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	301/2628	20872901	1,13005	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872901C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.901G>A	14.37:g.20872901C>T	ENSP00000262715:p.Val301Ile					TEP1_ENST00000556935.1_Intron	p.V301I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	5	941	-	all_cancers(95;0.00123)	all_lung(585;0.235)	301			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.901G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169402	0.09339	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13307	2.6	5.55	-7.97	0.01139	TROVE (2);	0.481200	0.21268	N	0.077374	T	0.02230	0.0069	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41910	-0.9482	10	0.02654	T	1	-1.0592	3.0455	0.06152	0.0847:0.1609:0.1646:0.5899	.	301	Q99973	TEP1_HUMAN	I	301	ENSP00000262715:V301I	ENSP00000262715:V301I	V	-	1	0	TEP1	19942741	0.221000	0.23642	0.005000	0.12908	0.695000	0.40330	-0.075000	0.11431	-1.621000	0.01562	-0.150000	0.13652	GTC		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		44	213	0	0	0	1	0	44	213					T	20872901	C	T	20872901	3	4	79	1	0	0	0	0	1	0	0	0	15811	536	19	1	7186	1	TEP1	14	20872901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22721	20872901	86476639	14412	24729											
OSGEP	55644	broad.mit.edu	37	chr14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgctctgtgatctctaCcagcattgcaaacacagttt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000206542.4	-	8	1145	c.724G>A	c.(724-726)Gta>Ata	p.V242I	OSGEP_ENST00000555656.1_Missense_Mutation_p.V43I|OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											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)		GTGATCTCTACCAGCATTGCA	0.473																																						ENST00000555656.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(127-129)Gta>Ata		O-sialoglycoprotein endopeptidase							110	115	113					14																	20916132		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916132C>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.724G>A	14.37:g.20916132C>T	ENSP00000206542:p.Val242Ile					OSGEP_ENST00000206542.4_Missense_Mutation_p.V242I|OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I	p.V43I			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)	4	2144	-	all_cancers(95;0.00123)	all_lung(585;0.235)	242						Missense_Mutation	SNP	ENST00000206542.4	37	c.127G>A	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016385	0.54468	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.058863	0.64402	D	0.000003	T	0.44993	0.1320	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.33690	0.168	T	0.42666	-0.9438	10	0.45353	T	0.12	-6.2207	16.4221	0.83766	0.0:1.0:0.0:0.0	.	242	Q9NPF4	OSGEP_HUMAN	I	43;242;60;60;43	ENSP00000451784:V43I;ENSP00000206542:V242I;ENSP00000451548:V60I;ENSP00000450464:V60I;ENSP00000451787:V43I	ENSP00000206542:V242I	V	-	1	0	OSGEP	19985972	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GTA		0.473	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		58	532	0	0	0	1	0	58	532					T	20916132	C	T	20916132	3	4	79	1	0	0	0	0	1	0	0	0	11329	507	18	2	299	2	OSGEP	14	20916132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43231	20916132	86433408	14413	24730											
OSGEP	328	broad.mit.edu	37	chr14	20922835	20922835	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcaaaacccagcaccGccggcatggcggaggctggg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20922835G>A	ENST00000216714.3	+	0	0				APEX1_ENST00000555414.1_5'Flank|APEX1_ENST00000398030.4_5'Flank|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000206542.4_Missense_Mutation_p.A3V|OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ACCCAGCACCGCCGGCATGGC	0.652								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(7-9)gCg>gTg		O-sialoglycoprotein endopeptidase							27	30	29					14																	20922835		2195	4285	6480	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922835G>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922835G>A	Exception_encountered					OSGEP_ENST00000556252.1_5'UTR	p.A3V	NM_017807.3	NP_060277.1	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)	1	429	-	all_cancers(95;0.00123)	all_lung(585;0.235)	3					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.8C>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	G	9.341	1.063008	0.19987	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.40476	1.04;1.03	5.65	4.76	0.60689	.	0.652897	0.16588	N	0.207884	T	0.13756	0.0333	N	0.00642	-1.3	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07597	-1.0764	10	0.31617	T	0.26	-4.1894	7.2917	0.26370	0.2415:0.0:0.7585:0.0	.	3	Q9NPF4	OSGEP_HUMAN	V	3	ENSP00000206542:A3V;ENSP00000450507:A3V	ENSP00000206542:A3V	A	-	2	0	OSGEP	19992675	0.029000	0.19370	0.630000	0.29268	0.997000	0.91878	2.455000	0.44988	1.633000	0.50488	0.655000	0.94253	GCG		0.652	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		12	341	0	0	0	1	0	12	341					A	20922835	G	A	20922835	1	1	79	0	1	0	0	0	0	0	0	0	11329	1087	38	1		1	OSGEP	14	20922835	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6703	20922835	86426705	14414	24731											
TMEM55B	90809	broad.mit.edu	37	chr14	20928928	20928928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcactcccactgtccggGctagttaagggtgaataggg	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	73	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(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;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CACTGTCCGGGCTAGTTAAGG	0.562																																						ENST00000250489.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11						c.(217-219)agC>agT		transmembrane protein 55B							111	108	109					14																	20928928		2203	4300	6503	SO:0001819	synonymous_variant	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928928G>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.219C>T	14.37:g.20928928G>A						TMEM55B_ENST00000398020.4_Silent_p.S80S	p.S73S			Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	505	-	all_cancers(95;0.00123)	all_lung(585;0.235)	73			Pro-rich.		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	37	c.219C>T	CCDS9551.1																																																																																				0.562	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		15	593	0	0	0	1	0	15	593					A	20928928	G	A	20928928	2	1	79	1	0	0	0	0	0	0	0	1	16234	1194	42	2		2	TMEM55B	14	20928928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6093	20928928	86420612	14415	24732											
PNP	4860	broad.mit.edu	37	chr14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaatccccaactttccccGaagtacaggtactggcaagg	9	12	0	1	rs199763463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						AACTTTCCCCGAAGTACAGGT	0.468																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.(172-174)cGa>cAa		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						57	51	53					14																	20940628		2203	4300	6503	SO:0001583	missense	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20940628G>A		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.173G>A	14.37:g.20940628G>A	ENSP00000354532:p.Arg58Gln						p.R58Q	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			2	319	+			58						Missense_Mutation	SNP	ENST00000361505.5	37	c.173G>A	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623376	0.28889	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.87103	-0.99;-2.21;-2.21	5.54	-10.7	0.00240	Nucleoside phosphorylase domain (1);	0.798013	0.12104	N	0.499173	T	0.54029	0.1833	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.56980	-0.7889	10	0.09843	T	0.71	0.7706	8.7381	0.34541	0.3584:0.0:0.4603:0.1813	.	58;58;58	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	Q	58;58;97	ENSP00000450663:R58Q;ENSP00000354532:R58Q;ENSP00000452421:R97Q	ENSP00000354532:R58Q	R	+	2	0	PNP	20010468	0.000000	0.05858	0.022000	0.16811	0.689000	0.40095	-0.715000	0.04997	-2.479000	0.00524	-2.290000	0.00267	CGA		0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		13	170	0	0	0	1	0	13	170					A	20940628	G	A	20940628	3	1	79	1	0	0	0	0	1	0	0	0	12205	1058	37	1	179	1	PNP	14	20940628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11700	20940628	86408912	14416	24733											
RNASE11	122651	broad.mit.edu	37	chr14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctctaatgaggtaacaCtatggtattggcacctgggg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448																																						ENST00000335950.4																			0				endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(517-519)aGt>aTt		ribonuclease, RNase A family, 11 (non-active)							106	88	94					14																	21052116		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052116C>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.518G>T	14.37:g.21052116C>A	ENSP00000476537:p.Ser173Ile					RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I	p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	3	980	-	all_cancers(95;0.00238)	all_lung(585;0.235)	173						Missense_Mutation	SNP	ENST00000610205.1	37	c.518G>T	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103399	0.56291	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.06	3.17	0.36434	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.72606	0.3481	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.60541	0.876	T	0.60209	-0.7308	10	0.56958	D	0.05	-12.3081	7.8189	0.29276	0.0:0.8873:0.0:0.1127	.	173	Q8TAA1	RNS11_HUMAN	I	173	ENSP00000338288:S173I;ENSP00000451318:S173I;ENSP00000451563:S173I;ENSP00000381093:S173I;ENSP00000381092:S173I;ENSP00000395210:S173I;ENSP00000401398:S173I;ENSP00000451839:S173I	ENSP00000338288:S173I	S	-	2	0	RNASE11	20121956	0.041000	0.20044	0.005000	0.12908	0.226000	0.24999	1.381000	0.34362	1.297000	0.44761	0.511000	0.50034	AGT		0.448	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		23	258	1	0	3.5997e-14	1	3.90403e-14	23	258					A	21052116	C	A	21052116	3	1	79	1	0	0	0	0	1	0	0	0	13451	565	20	3	85	3	RNASE11	14	21052116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111488	21052116	86297424	14417	24734											
EDDM3A	10876	broad.mit.edu	37	chr14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaacttcattacttaagtCcaagtcgagaattcaaagag	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	41					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393																																						ENST00000326842.2																			0				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(121-123)Cca>Tca		epididymal protein 3A							96	96	96					14																	21215860		2203	4300	6503	SO:0001583	missense	10876				sperm displacement	extracellular space		g.chr14:21215860C>T	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.121C>T	14.37:g.21215860C>T	ENSP00000315098:p.Pro41Ser						p.P41S	NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN			2	248	+			41					Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	c.121C>T	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570464	0.13560	.	.	ENSG00000181562	ENST00000326842	T	0.44881	0.91	2.46	-0.08	0.13708	Ribonuclease A, domain (2);	1.089430	0.07136	N	0.846540	T	0.30135	0.0755	L	0.38531	1.155	0.09310	N	1	B	0.28233	0.204	B	0.32724	0.151	T	0.30475	-0.9977	10	0.21540	T	0.41	.	3.3642	0.07198	0.304:0.542:0.0:0.154	.	41	Q14507	EP3A_HUMAN	S	41	ENSP00000315098:P41S	ENSP00000315098:P41S	P	+	1	0	EDDM3A	20285700	0.000000	0.05858	0.036000	0.18154	0.306000	0.27790	-0.629000	0.05508	-0.231000	0.09825	0.313000	0.20887	CCA		0.393	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			80	387	0	0	0	1	0	80	387					T	21215860	C	T	21215860	3	4	79	1	0	0	0	0	1	0	0	0	4925	855	30	2	123	2	EDDM3A	14	21215860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163744	21215860	86133680	14418	24735											
METT11D1	64745	broad.mit.edu	37	chr14	21465009	21465009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgcttactccgtctgCgtttcctccatctacggctc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21465009C>T	ENST00000339374.6	+	14	1564	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	METTL17_ENST00000382985.4_Silent_p.C468C|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A435V|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	444					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACTCCGTCTGCGTTTCCTCCA	0.527																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1330-1332)gCg>gTg		methyltransferase like 17							148	124	132					14																	21465009		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21465009C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1331C>T	14.37:g.21465009C>T	ENSP00000343041:p.Ala444Val					RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A435V|METTL17_ENST00000382985.4_Silent_p.C468C	p.A444V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			14	1564	+			444					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1331C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228328	0.22542	.	.	ENSG00000165792	ENST00000339374	T	0.30981	1.51	5.1	1.23	0.21249	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	1	B;B	0.27700	0.185;0.186	B;B	0.20767	0.014;0.031	T	0.21109	-1.0255	8	0.29301	T	0.29	.	5.2717	0.15628	0.5231:0.3791:0.0978:0.0	.	444;435	Q9H7H0;Q9H7H0-2	MET17_HUMAN;.	V	444	ENSP00000343041:A444V	ENSP00000343041:A444V	A	+	2	0	METTL17	20534849	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.574000	0.23714	0.298000	0.22638	-0.262000	0.10625	GCG		0.527	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		16	444	0	0	0	1	0	16	444					T	21465009	C	T	21465009	3	4	79	1	0	0	0	0	1	0	0	0	9532	777	27	1	1454	1	METT11D1	14	21465009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249149	21465009	85884531	14419	24736											
RNASE13	440163	broad.mit.edu	37	chr14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtgatggggagggaatcCtgggtgagtgtgcagtattc	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	104						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498																																						ENST00000382951.3																			0				cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12						c.(310-312)caG>caT		ribonuclease, RNase A family, 13 (non-active)							254	205	222					14																	21502136		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502136C>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"Ribonucleases, RNase A"	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.312G>T	14.37:g.21502136C>A	ENSP00000372410:p.Gln104His					NDRG2_ENST00000403829.3_Intron	p.Q104H	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	449	-	all_cancers(95;0.000759)		104						Missense_Mutation	SNP	ENST00000382951.3	37	c.312G>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050194	0.19827	.	.	ENSG00000206150	ENST00000382951	T	0.73258	-0.73	5.42	3.32	0.38043	Ribonuclease A, domain (3);	1.234980	0.05590	N	0.574488	T	0.53012	0.1770	N	0.12182	0.205	0.09310	N	1	B	0.19073	0.033	B	0.25405	0.06	T	0.41106	-0.9527	10	0.33940	T	0.23	-46.6539	5.426	0.16425	0.0:0.6805:0.208:0.1115	.	104	Q5GAN3	RNS13_HUMAN	H	104	ENSP00000372410:Q104H	ENSP00000372410:Q104H	Q	-	3	2	RNASE13	20571976	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.439000	0.21575	2.545000	0.85829	0.650000	0.86243	CAG		0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			51	496	1	0	3.76525e-18	1	4.17087e-18	51	496					A	21502136	C	A	21502136	3	1	79	1	0	0	0	0	1	0	0	0	13453	680	24	3	162	3	RNASE13	14	21502136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37127	21502136	85847404	14420	24737											
FLJ10357	55701	broad.mit.edu	37	chr14	21547044	21547044	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgctccttcccaaggCtggagggccaaggcccagct	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21547044C>A	ENST00000298694.4	+	11	2375	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	ARHGEF40_ENST00000298693.3_Splice_Site_p.L750M			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	750						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTTCCCAAGGCTGGAGGGCCA	0.552																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.e11-1		Rho guanine nucleotide exchange factor (GEF) 40							71	66	68					14																	21547044		2203	4300	6503	SO:0001630	splice_region_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21547044C>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2247-1C>A	14.37:g.21547044C>A						ARHGEF40_ENST00000298693.3_Splice_Site_p.L750_splice	p.L750_splice			Q8TER5	ARH40_HUMAN			11	2375	+			750					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Splice_Site	SNP	ENST00000298694.4	37	c.2246_splice	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767847	0.31320	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02498	4.33;4.27	5.16	2.16	0.27623	.	0.000000	0.40385	N	0.001107	T	0.08492	0.0211	L	0.54323	1.7	0.27837	N	0.941243	D;D	0.69078	0.997;0.995	D;D	0.77004	0.989;0.979	T	0.03773	-1.1005	10	0.59425	D	0.04	.	6.0427	0.19742	0.0:0.6838:0.0:0.3162	.	750;750	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	M	750	ENSP00000298694:L750M;ENSP00000298693:L750M	ENSP00000298693:L750M	L	+	1	2	ARHGEF40	20616884	0.990000	0.36364	0.994000	0.49952	0.095000	0.18619	0.077000	0.14738	0.769000	0.33313	0.462000	0.41574	CTG		0.552	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		Missense_Mutation	32	222	1	0	4.11147e-13	1	4.43253e-13	32	222					A	21547044	C	A	21547044	5	1	79	1	0	0	0	0	0	0	1	0	5951	811	28	3	2290	3	FLJ10357	14	21547044	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44908	21547044	85802496	14421	24738											
ZNF219	51222	broad.mit.edu	37	chr14	21561402	21561402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcgccgtcgaaagcCggcggcgacggcgctaagtg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Silent_p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	18					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(52-54)ccG>ccA		zinc finger protein 219							11	12	12					14																	21561402		2158	4218	6376	SO:0001819	synonymous_variant	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21561402C>T	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.54G>A	14.37:g.21561402C>T			OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000421093.2_Silent_p.P18P|ZNF219_ENST00000451119.2_Silent_p.P18P	p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	465	-	all_cancers(95;0.00185)		18					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	c.54G>A	CCDS9568.1																																																																																				0.647	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			30	104	0	0	0	1	0	30	104					T	21561402	C	T	21561402	2	4	79	1	0	0	0	0	0	0	0	1	17826	639	23	1		1	ZNF219	14	21561402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14358	21561402	85788138	14422	24739											
HNRNPC	3183	broad.mit.edu	37	chr14	21702191	21702191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcattaacatactgaacGaaggcaaagcccttatgaac	6	11	1	2	rs117138992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000320084.7	-	2	401	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000430246.2_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18339	0.0		0.001	False		,,,				2504	0.0				NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(160-162)ttC>ttT		heterogeneous nuclear ribonucleoprotein C (C1/C2)							86	85	85					14																	21702191		2193	4294	6487	SO:0001819	synonymous_variant	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21702191G>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.162C>T	14.37:g.21702191G>A						HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000320084.7_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F	p.F54F			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	2	3113	-	all_cancers(95;0.00176)		54			RRM.		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Silent	SNP	ENST00000320084.7	37	c.162C>T	CCDS41915.1																																																																																				0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			144	547	0	0	0	1	0	144	547					A	21702191	G	A	21702191	2	1	79	1	0	0	0	0	0	0	0	1	7292	1049	37	1		1	HNRNPC	14	21702191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140789	21702191	85647349	14423	24740											
RPGRIP1	57096	broad.mit.edu	37	chr14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaatgcagccacaatTtcccaacctcctgacaggca	5	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000400017.2	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	465					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCCACAATTTCCCAACCTC	0.458																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1393-1395)atT>atG		retinitis pigmentosa GTPase regulator interacting protein 1							50	49	49					14																	21788264		1924	4135	6059	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21788264T>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1395T>G	14.37:g.21788264T>G	ENSP00000382895:p.Ile465Met					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M	p.I465M			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	11	1395	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	465					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1395T>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170421	0.21621	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76060	-0.16;-0.94;-0.99;-0.99;-0.48	4.68	-2.0	0.07433	.	1.272670	0.04951	N	0.460368	T	0.64864	0.2637	L	0.54323	1.7	0.09310	N	0.999995	B;P;B	0.38250	0.015;0.624;0.306	B;B;B	0.38954	0.023;0.286;0.11	T	0.51710	-0.8671	10	0.35671	T	0.21	2.5688	0.4158	0.00448	0.1926:0.1991:0.2835:0.3248	.	107;81;465	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	M	438;438;465;465;107;132	ENSP00000450445:I438M;ENSP00000451219:I438M;ENSP00000382895:I465M;ENSP00000206660:I465M;ENSP00000372391:I107M	ENSP00000206660:I465M	I	+	3	3	RPGRIP1	20858104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.230000	0.09083	-0.325000	0.08577	-0.256000	0.11100	ATT		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		36	132	0	0	0	1	0	36	132					G	21788264	T	G	21788264	3	3	79	1	0	0	0	0	1	0	0	0	13599	1829	64	4	1437	4	RPGRIP1	14	21788264	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86073	21788264	85561276	14424	24741											
SUPT16H	11198	broad.mit.edu	37	chr14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaataaaagttgattcGcaagtaagtataatctcctt	8	6	1	1	rs143235888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	569					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGTTGATTCGCAAGTAAGTA	0.398																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1705-1707)Cga>Tga		suppressor of Ty 16 homolog (S. cerevisiae)							66	61	62					14																	21830444		2203	4300	6503	SO:0001587	stop_gained	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21830444G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1705C>T	14.37:g.21830444G>A	ENSP00000216297:p.Arg569*						p.R569*	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	15	2043	-	all_cancers(95;0.00115)		569					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	37	c.1705C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	41	8.835193	0.98972	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8971	9.2709	0.37670	0.0:0.1376:0.5956:0.2667	.	.	.	.	X	569	.	ENSP00000216297:R569X	R	-	1	2	SUPT16H	20900284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.400000	0.46741	0.650000	0.86243	CGA		0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			51	188	0	0	0	1	0	51	188					A	21830444	G	A	21830444	4	1	79	1	0	0	0	0	0	1	0	0	15448	1095	38	1	1486	1	SUPT16H	14	21830444	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42180	21830444	85519096	14425	24742											
CHD8	57680	broad.mit.edu	37	chr14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctggatgaccctgtaaCcacatctccagttcagcccg	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000557364.1	-	36	7283	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2340					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCCTGTAACCACATCTCCA	0.512																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(7018-7020)tgG>tgA		chromodomain helicase DNA binding protein 8							50	51	51					14																	21859667		2025	4166	6191	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859667C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7020G>A	14.37:g.21859667C>T	ENSP00000451601:p.Trp2340*					CHD8_ENST00000557364.1_Nonsense_Mutation_p.W2340*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*	p.W2340*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	35	7084	-	all_cancers(95;0.00121)		2340					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.7020G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	49	15.257496	0.99828	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6396	18.1527	0.89679	0.0:1.0:0.0:0.0	.	.	.	.	X	2061;2340;2060;2340	.	ENSP00000262707:W2060X	W	-	3	0	CHD8	20929507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.819000	0.97034	0.655000	0.94253	TGG		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		22	110	0	0	0	1	0	22	110					T	21859667	C	T	21859667	4	4	79	1	0	0	0	0	0	1	0	0	3340	508	18	2	737	2	CHD8	14	21859667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29223	21859667	85489873	14426	24743											
CHD8	57680	broad.mit.edu	37	chr14	21861744	21861744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaagtccagctcagaGtccgaatcatcctcatcctc	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	ENST00000557364.1	-	32	6473	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.D1791D|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Silent_p.D2070D			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2070	Ser-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAGCTCAGAGTCCGAATCAT	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6208-6210)gaC>gaT		chromodomain helicase DNA binding protein 8							43	45	44					14																	21861744		2086	4216	6302	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861744G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6210C>T	14.37:g.21861744G>A						CHD8_ENST00000557364.1_Silent_p.D2070D|CHD8_ENST00000430710.3_Silent_p.D1791D	p.D2070D	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6274	-	all_cancers(95;0.00121)		2070			Ser-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6210C>T	CCDS53885.1																																																																																				0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		11	87	0	0	0	1	0	11	87					A	21861744	G	A	21861744	2	1	79	1	0	0	0	0	0	0	0	1	3340	1020	36	2		2	CHD8	14	21861744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2077	21861744	85487796	14427	24744											
CHD8	57680	broad.mit.edu	37	chr14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaagcctagctgttagggCagagcccggaggccagaata	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000557364.1	-	30	5493	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1744					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGTTAGGGCAGAGCCCGGA	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(5230-5232)Gcc>Acc		chromodomain helicase DNA binding protein 8							37	36	36					14																	21863231		1916	4130	6046	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863231C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5230G>A	14.37:g.21863231C>T	ENSP00000451601:p.Ala1744Thr					CHD8_ENST00000557364.1_Missense_Mutation_p.A1744T|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|CHD8_ENST00000555962.1_5'UTR	p.A1744T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	29	5294	-	all_cancers(95;0.00121)		1744					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5230G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432580	0.62844	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79554	-1.28;-1.28;-1.28	6.07	6.07	0.98685	.	0.059716	0.64402	D	0.000002	T	0.76716	0.4026	L	0.39020	1.185	0.50467	D	0.99987	B	0.32128	0.357	B	0.36186	0.219	T	0.71224	-0.4656	10	0.25751	T	0.34	-17.1232	19.4308	0.94765	0.0:1.0:0.0:0.0	.	1465	Q9HCK8-2	.	T	1465;1744;1464;1744	ENSP00000406288:A1465T;ENSP00000382863:A1744T;ENSP00000451601:A1744T	ENSP00000262707:A1464T	A	-	1	0	CHD8	20933071	0.762000	0.28451	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.885000	0.99019	0.655000	0.94253	GCC		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	140	0	0	0	1	0	13	140					T	21863231	C	T	21863231	3	4	79	1	0	0	0	0	1	0	0	0	3340	710	25	2	2551	2	CHD8	14	21863231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1487	21863231	85486309	14428	24745											
CHD8	57680	broad.mit.edu	37	chr14	21868399	21868399	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatccaatctgccttatgGatatcaaaagtgctttgtga	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000557364.1	-	24	4901	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000399982.2_Silent_p.I1546I			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1546					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATGGATATCAAAAG	0.403																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4636-4638)atC>atT		chromodomain helicase DNA binding protein 8							136	125	128					14																	21868399		1847	4096	5943	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868399G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4638C>T	14.37:g.21868399G>A						CHD8_ENST00000557364.1_Silent_p.I1546I|CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000555962.1_5'UTR	p.I1546I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	23	4702	-	all_cancers(95;0.00121)		1546					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.4638C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063266	0.08388	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	2.41	0.29592	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	-9.7636	4.8474	0.13521	0.1622:0.0:0.5391:0.2987	.	.	.	.	S	780	.	.	P	-	1	0	CHD8	20938239	0.028000	0.19301	1.000000	0.80357	0.921000	0.55340	-0.831000	0.04405	0.353000	0.24079	-0.745000	0.03516	CCA		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		67	250	0	0	0	1	0	67	250					A	21868399	G	A	21868399	2	1	79	1	0	0	0	0	0	0	0	1	3340	1164	41	2		2	CHD8	14	21868399	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5168	21868399	85481141	14429	24746											
CHD8	57680	broad.mit.edu	37	chr14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctgcgggagcgtggccGctcatcatcctcactttcca	10	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000557364.1	-	22	4548	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1429					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCGTGGCCGCTCATCATCC	0.498																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4285-4287)Cgg>Tgg		chromodomain helicase DNA binding protein 8							129	126	127					14																	21869119		1988	4168	6156	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21869119G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4285C>T	14.37:g.21869119G>A	ENSP00000451601:p.Arg1429Trp					CHD8_ENST00000557364.1_Missense_Mutation_p.R1429W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000555962.1_Intron	p.R1429W	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	21	4349	-	all_cancers(95;0.00121)		1429					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4285C>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.915889|2.915889	0.52546|0.52546	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.86097	.|-2.07;-2.07;-2.07	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.076903	.|0.56097	.|D	.|0.000033	D|D	0.85708|0.85708	0.5759|0.5759	N|N	0.22421|0.22421	0.69|0.69	0.48975|0.48975	D|D	0.999736|0.999736	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.71184	.|0.872;0.972	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.87932	.|D	.|0	-12.8282|-12.8282	11.6568|11.6568	0.51324|0.51324	0.0:0.0:0.6781:0.3219|0.0:0.0:0.6781:0.3219	.|.	.|1429;1150	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|W	654|1150;1429;1149;1429	.|ENSP00000406288:R1150W;ENSP00000382863:R1429W;ENSP00000451601:R1429W	.|ENSP00000262707:R1149W	A|R	-|-	2|1	0|2	CHD8|CHD8	20938959|20938959	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.670000|0.670000	0.39368|0.39368	3.463000|3.463000	0.53050|0.53050	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		71	281	0	0	0	1	0	71	281					A	21869119	G	A	21869119	3	1	79	1	0	0	0	0	1	0	0	0	3340	1086	38	1	3528	1	CHD8	14	21869119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	21869119	85480421	14430	24747											
CHD8	57680	broad.mit.edu	37	chr14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttcttacccactacagGagtgatggtgctaaaaagga	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000557364.1	-	5	1875	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000399982.2_Missense_Mutation_p.P538S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	538					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACTACAGGAGTGATGGTG	0.353																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1612-1614)Cct>Tct		chromodomain helicase DNA binding protein 8							85	72	76					14																	21894391		1856	4105	5961	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21894391G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1612C>T	14.37:g.21894391G>A	ENSP00000451601:p.Pro538Ser					CHD8_ENST00000557364.1_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000555962.1_Intron	p.P538S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	4	1676	-	all_cancers(95;0.00121)		538					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1612C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874985	0.51695	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88818	-2.4;-2.43;-2.43	5.58	5.58	0.84498	.	0.060955	0.64402	D	0.000002	D	0.86322	0.5905	N	0.19112	0.55	0.50632	D	0.999885	P	0.50443	0.935	P	0.52881	0.712	T	0.82647	-0.0354	10	0.10636	T	0.68	-11.8128	18.349	0.90331	0.0:0.0:1.0:0.0	.	259	Q9HCK8-2	.	S	259;538;258;538	ENSP00000406288:P259S;ENSP00000382863:P538S;ENSP00000451601:P538S	ENSP00000262707:P258S	P	-	1	0	CHD8	20964231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	CCT		0.353	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	72	0	0	0	1	0	8	72					A	21894391	G	A	21894391	3	1	79	1	0	0	0	0	1	0	0	0	3340	1174	41	2	6269	2	CHD8	14	21894391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25272	21894391	85455149	14431	24748											
CHD8	57680	broad.mit.edu	37	chr14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaatggaaacacctggtCgaaggggtgtgccggttagc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000557364.1	-	2	898	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	212					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACACCTGGTCGAAGGGGTGT	0.572																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(634-636)cGa>cAa		chromodomain helicase DNA binding protein 8							45	41	42					14																	21899168		1568	3582	5150	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21899168C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.635G>A	14.37:g.21899168C>T	ENSP00000451601:p.Arg212Gln					CHD8_ENST00000557364.1_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron	p.R212Q	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	699	-	all_cancers(95;0.00121)		212					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.635G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315742	0.81469	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.90004	-2.6;-2.6	5.86	5.86	0.93980	.	0.150379	0.28230	U	0.016120	D	0.85915	0.5808	N	0.24115	0.695	0.36061	D	0.841445	.	.	.	.	.	.	D	0.83981	0.0332	8	0.13470	T	0.59	-4.9624	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	Q	212	ENSP00000382863:R212Q;ENSP00000451601:R212Q	ENSP00000382863:R212Q	R	-	2	0	CHD8	20969008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.901000	0.63259	2.775000	0.95449	0.585000	0.79938	CGA		0.572	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		21	124	0	0	0	1	0	21	124					T	21899168	C	T	21899168	3	4	79	1	0	0	0	0	1	0	0	0	3340	884	31	1	7258	1	CHD8	14	21899168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4777	21899168	85450372	14432	24749											
RAB2B	84932	broad.mit.edu	37	chr14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatgaatataagtccatGctccctagcaaaggcctctc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	141					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(421-423)Cat>Tat		RAB2B, member RAS oncogene family							153	141	145					14																	21931868		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21931868G>A	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.421C>T	14.37:g.21931868G>A	ENSP00000380869:p.His141Tyr					RAB2B_ENST00000461909.1_5'UTR	p.H141Y	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	6	521	-	all_cancers(95;0.000858)		141					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.421C>T	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131159	0.94473	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	N	0.25825	0.765	0.80722	D	1	B;B;P	0.39311	0.075;0.408;0.667	B;B;B	0.38056	0.19;0.264;0.258	T	0.77133	-0.2700	10	0.87932	D	0	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	141;95;76	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	Y	141	ENSP00000380869:H141Y	ENSP00000302005:H141Y	H	-	1	0	RAB2B	21001708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.113000	0.94321	2.850000	0.98022	0.655000	0.94253	CAT		0.413	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			89	368	0	0	0	1	0	89	368					A	21931868	G	A	21931868	3	1	79	1	0	0	0	0	1	0	0	0	12968	1319	46	2	241	2	RAB2B	14	21931868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32700	21931868	85417672	14433	24750											
TOX4	9878	broad.mit.edu	37	chr14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattacaacagatgccacaGcccccgactcagcagcaagt	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	453	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1357-1359)caG>caT		TOX high mobility group box family member 4							95	88	90					14																	21961134		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961134G>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1359G>T	14.37:g.21961134G>T	ENSP00000385102:p.Gln453His					TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H	p.Q453H			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1635	+	all_cancers(95;0.000465)		453			Gln/Pro-rich.		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1359G>T	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069594	0.20147	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15139	2.45;2.45;2.47	4.96	1.09	0.20402	.	0.672239	0.14521	N	0.314432	T	0.11495	0.0280	N	0.08118	0	0.37097	D	0.899727	D;D	0.56521	0.976;0.976	P;P	0.47528	0.549;0.549	T	0.22871	-1.0204	10	0.38643	T	0.18	.	12.175	0.54180	0.2895:0.0:0.7105:0.0	.	430;453	B4DPY8;O94842	.;TOX4_HUMAN	H	453;453;430;381	ENSP00000385102:Q453H;ENSP00000262709:Q453H;ENSP00000393080:Q430H	ENSP00000262709:Q453H	Q	+	3	2	TOX4	21030974	0.998000	0.40836	0.999000	0.59377	0.154000	0.21943	0.605000	0.24179	0.106000	0.17784	-1.644000	0.00765	CAG		0.567	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		170	764	1	0	2.83946e-81	1	3.63311e-81	170	764					T	21961134	G	T	21961134	3	4	79	1	0	0	0	0	1	0	0	0	16433	962	34	3	1385	3	TOX4	14	21961134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29266	21961134	85388406	14434	24751											
METTL3	56339	broad.mit.edu	37	chr14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagagactaacgaactgGcaaaggcagctactgtagtc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	191					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAACGAACTGGCAAAGGCAGC	0.547																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(571-573)gCc>gTc		methyltransferase like 3							111	90	97					14																	21971467		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971467G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.572C>T	14.37:g.21971467G>A	ENSP00000298717:p.Ala191Val					METTL3_ENST00000538267.1_Intron	p.A191V	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	723	-	all_cancers(95;0.000628)		191					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.572C>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688699	0.29962	.	.	ENSG00000165819	ENST00000298717	T	0.31247	1.5	5.36	4.48	0.54585	.	0.495398	0.23868	N	0.043762	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.21546	0.006;0.035;0.002	T	0.08827	-1.0703	10	0.12103	T	0.63	.	9.3888	0.38361	0.163:0.0:0.837:0.0	.	191;191;191	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	191	ENSP00000298717:A191V	ENSP00000298717:A191V	A	-	2	0	METTL3	21041307	1.000000	0.71417	0.980000	0.43619	0.667000	0.39255	7.944000	0.87722	1.511000	0.48818	-0.251000	0.11542	GCC		0.547	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		62	277	0	0	0	1	0	62	277					A	21971467	G	A	21971467	3	1	79	1	0	0	0	0	1	0	0	0	9542	1203	42	2	1206	2	METTL3	14	21971467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10333	21971467	85378073	14435	24752											
SALL2	6297	broad.mit.edu	37	chr14	21991201	21991201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctctaccaaggtcacGctggtggcttccccttctgg	10	15	3	0	rs199822625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	887					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19198	0.001		0.0	False		,,,				2504	0.0					ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2659-2661)agC>agT		spalt-like transcription factor 2							63	58	60					14																	21991201		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991201G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2661C>T	14.37:g.21991201G>A						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000538754.1_Intron	p.S887S	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2955	-	all_cancers(95;0.000662)		887					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2661C>T	CCDS32045.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.028	-1.352014	0.01256	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	2.79	0.32731	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23254	N	0.998031	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-14.6793	5.2257	0.15393	0.1157:0.2131:0.6712:0.0	.	.	.	.	V	746	.	.	A	-	2	0	SALL2	21061041	0.007000	0.16637	0.593000	0.28771	0.007000	0.05969	-0.145000	0.10265	1.232000	0.43678	-0.257000	0.10917	GCG		0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		67	223	0	0	0	1	0	67	223					A	21991201	G	A	21991201	2	1	79	1	0	0	0	0	0	0	0	1	13861	1078	38	1		1	SALL2	14	21991201	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19734	21991201	85358339	14436	24753											
SALL2	6297	broad.mit.edu	37	chr14	21993139	21993139	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggcttgatggggctgaaGaggggtagtaggggcttggt	20	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(721-723)ctC>ctA		spalt-like transcription factor 2							50	50	50					14																	21993139		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993139G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.723C>A	14.37:g.21993139G>T						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron	p.L241L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1017	-	all_cancers(95;0.000662)		241					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.723C>A	CCDS32045.1																																																																																				0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		32	212	1	0	3.90053e-15	1	4.25374e-15	32	212					T	21993139	G	T	21993139	2	4	79	1	0	0	0	0	0	0	0	1	13861	929	33	3		3	SALL2	14	21993139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1938	21993139	85356401	14437	24754											
OR10G3	26533	broad.mit.edu	37	chr14	22038099	22038099	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtttcaggcctcaggtaGatgaaggcacagggcacata	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(775-777)atC>atT		olfactory receptor, family 10, subfamily G, member 3							81	85	83					14																	22038099		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038099G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.777C>T	14.37:g.22038099G>A							p.I259I	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	776	-	all_cancers(95;0.000987)		259					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.777C>T	CCDS32046.1																																																																																				0.582	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			110	503	0	0	0	1	0	110	503					A	22038099	G	A	22038099	2	1	79	1	0	0	0	0	0	0	0	1	10942	932	33	2		2	OR10G3	14	22038099	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44960	22038099	85311441	14438	24755											
OR10G2	26534	broad.mit.edu	37	chr14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacccaagctccagccacaAggactgtgcataacctccca	7	17	0	0	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGCCACAAGGACTGTGCA	0.557																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(445-447)cTt>cGt		olfactory receptor, family 10, subfamily G, member 2							35	40	38					14																	22102553		2202	4298	6500	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102553A>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.446T>G	14.37:g.22102553A>C	ENSP00000445383:p.Leu149Arg						p.L149R	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	543	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	149					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.446T>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693504	0.48202	.	.	ENSG00000255582	ENST00000542433	T	0.44881	0.91	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001617	T	0.70962	0.3284	H	0.95260	3.645	0.28420	N	0.917786	D	0.71674	0.998	D	0.72982	0.979	T	0.69397	-0.5156	10	0.87932	D	0	-7.5525	10.2529	0.43379	1.0:0.0:0.0:0.0	.	149	Q8NGC3	O10G2_HUMAN	R	149	ENSP00000445383:L149R	ENSP00000445383:L149R	L	-	2	0	OR10G2	21172393	0.325000	0.24660	0.998000	0.56505	0.961000	0.63080	3.861000	0.56002	1.525000	0.49052	0.374000	0.22700	CTT		0.557	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			29	123	0	0	0	1	0	29	123					C	22102553	A	C	22102553	3	2	79	1	0	0	0	0	1	0	0	0	10941	72	3	4	489	4	OR10G2	14	22102553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64454	22102553	85246987	14439	24756											
OXA1L	9056	broad.mit.edu	37	chr14	23240499	23240499	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaatgctgaaatgacGcgtcagctgcgagagcgtga	14	7	1	4	rs145104436	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23240499G>A	ENST00000397532.3	-	0	2447				OXA1L_ENST00000358043.5_Silent_p.T359T|OXA1L_ENST00000604262.1_Silent_p.T375T|OXA1L_ENST00000412791.1_Intron|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000285848.5_Silent_p.T435T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTGAAATGACGCGTCAGCTGC	0.463																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(1075-1077)acG>acA		oxidase (cytochrome c) assembly 1-like		G		0,4406		0,0,2203	68	71	70		1305	-11.4	0	14	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	OXA1L	NM_005015.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		435/496	23240499	3,13003	2203	4300	6503	SO:0001628	intergenic_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23240499G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240499G>A						OXA1L_ENST00000412791.1_Intron|OXA1L_ENST00000604262.1_Silent_p.T375T|OXA1L_ENST00000285848.5_Silent_p.T435T	p.T359T			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	9	1395	+	all_cancers(95;8.44e-05)		375					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1077G>A	CCDS9574.1																																																																																				0.463	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			53	182	0	0	0	1	0	53	182					A	23240499	G	A	23240499	1	1	79	0	1	0	0	0	0	0	0	0	11370	1074	38	1		1	OXA1L	14	23240499	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1137946	23240499	84109041	14440	24757											
SLC7A7	9056	broad.mit.edu	37	chr14	23243280	23243280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagtggaacagccaccaGgaagatggtgcagaggcaga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	431					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1291-1293)Ctg>Ttg		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							131	128	129					14																	23243280		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243280G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1291C>T	14.37:g.23243280G>A						SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L	p.L431L			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1816	-	all_cancers(95;8.44e-05)		431					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1291C>T	CCDS9574.1																																																																																				0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			54	289	0	0	0	1	0	54	289					A	23243280	G	A	23243280	2	1	79	1	0	0	0	0	0	0	0	1	14753	991	35	2		2	SLC7A7	14	23243280	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2781	23243280	84106260	14441	24758											
SLC7A7	9056	broad.mit.edu	37	chr14	23282281	23282281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggaatcctccaaaggcCtccaggatataggcatagct	10	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	109					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(325-327)gaG>gaA		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							124	126	126					14																	23282281		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282281C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.327G>A	14.37:g.23282281C>T						SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron	p.E109E			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	2	852	-	all_cancers(95;8.44e-05)		109					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.327G>A	CCDS9574.1																																																																																				0.552	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			138	592	0	0	0	1	0	138	592					T	23282281	C	T	23282281	2	4	79	1	0	0	0	0	0	0	0	1	14753	680	24	2		2	SLC7A7	14	23282281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39001	23282281	84067259	14442	24759											
MMP14	4323	broad.mit.edu	37	chr14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccaagacccccccgttgtCtcctgctccccctgctcacg	6	23	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	11					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCCCCGTTGTCTCCTGCTCCC	0.726											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(31-33)Ctc>Atc		matrix metallopeptidase 14 (membrane-inserted)							30	25	27					14																	23306057		2203	4298	6501	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23306057C>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.31C>A	14.37:g.23306057C>A	ENSP00000308208:p.Leu11Ile		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L11I	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	1	292	+	all_cancers(95;9.47e-05)		11					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.31C>A	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604229	0.46423	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.59224	2.4;0.28	4.75	4.75	0.60458	.	0.533597	0.20310	N	0.094848	T	0.37517	0.1006	N	0.08118	0	0.31485	N	0.666702	B	0.24823	0.112	B	0.23018	0.043	T	0.42310	-0.9459	10	0.40728	T	0.16	.	13.4433	0.61125	0.0:1.0:0.0:0.0	.	11	P50281	MMP14_HUMAN	I	11	ENSP00000308208:L11I;ENSP00000450323:L11I	ENSP00000308208:L11I	L	+	1	0	MMP14	22375897	0.813000	0.29090	0.998000	0.56505	0.991000	0.79684	1.956000	0.40382	2.630000	0.89119	0.655000	0.94253	CTC		0.726	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		44	144	1	0	3.54909e-21	1	3.99219e-21	44	144					A	23306057	C	A	23306057	3	1	79	1	0	0	0	0	1	0	0	0	9694	913	32	3	33	3	MMP14	14	23306057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23776	23306057	84043483	14443	24760											
MMP14	4323	broad.mit.edu	37	chr14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctccccctgctcacgCtcggcaccgcgctcgcctcc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCTGCTCACGCTCGGCACCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(52-54)Ctc>Ttc		matrix metallopeptidase 14 (membrane-inserted)							29	24	26					14																	23306078		2203	4298	6501	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23306078C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.52C>T	14.37:g.23306078C>T	ENSP00000308208:p.Leu18Phe		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L18F	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	1	313	+	all_cancers(95;9.47e-05)		18					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.52C>T	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378692	0.42207	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.63417	2.34;-0.04	4.55	4.55	0.56014	.	2.767510	0.01059	N	0.004607	T	0.60483	0.2272	N	0.08118	0	0.33990	D	0.649053	D	0.58970	0.984	P	0.59595	0.86	T	0.59511	-0.7441	10	0.09590	T	0.72	.	13.0028	0.58685	0.0:1.0:0.0:0.0	.	18	P50281	MMP14_HUMAN	F	18	ENSP00000308208:L18F;ENSP00000450323:L18F	ENSP00000308208:L18F	L	+	1	0	MMP14	22375918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.020000	0.49643	2.524000	0.85096	0.655000	0.94253	CTC		0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		22	191	0	0	0	1	0	22	191					T	23306078	C	T	23306078	3	4	79	1	0	0	0	0	1	0	0	0	9694	797	28	2	54	2	MMP14	14	23306078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	23306078	84043462	14444	24761											
MMP14	4323	broad.mit.edu	37	chr14	23311685	23311685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcgcaaggcgttccgCgtgtgggagagtgccacacc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	149					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGGCGTTCCGCGTGTGGGAGA	0.607																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(445-447)cgC>cgT		matrix metallopeptidase 14 (membrane-inserted)							79	55	63					14																	23311685		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311685C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.447C>T	14.37:g.23311685C>T						MMP14_ENST00000548162.1_3'UTR	p.R149R	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	708	+	all_cancers(95;9.47e-05)		149					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.447C>T	CCDS9577.1																																																																																				0.607	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		26	133	0	0	0	1	0	26	133					T	23311685	C	T	23311685	2	4	79	1	0	0	0	0	0	0	0	1	9694	755	27	1		1	MMP14	14	23311685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5607	23311685	84037855	14445	24762											
LRP10	26020	broad.mit.edu	37	chr14	23345402	23345402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagtgcgtgtatgagacGtgggtgtgcgatgggcagcc	19	6	0	2	rs372856009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	415	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTATGAGACGTGGGTGTGCG	0.572																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1243-1245)acG>acA		low density lipoprotein receptor-related protein 10		A		0,4406		0,0,2203	214	194	201		1245	-11.9	0.2	14		201	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	LRP10	NM_014045.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		415/714	23345402	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345402G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1245G>A	14.37:g.23345402G>A						LRP10_ENST00000546834.1_Silent_p.T415T	p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1936	+	all_cancers(95;4.69e-05)		415			LDL-receptor class A 4.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.1245G>A	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205658	0.09704	0.0	1.16E-4	ENSG00000197324	ENST00000551466	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-8.3507	5.5399	0.17031	0.4097:0.2297:0.2983:0.0623	.	.	.	.	M	317	.	.	V	+	1	0	LRP10	22415242	0.000000	0.05858	0.232000	0.24009	0.871000	0.50021	-4.299000	0.00257	-2.310000	0.00650	-2.160000	0.00327	GTG		0.572	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			33	669	0	0	0	1	0	33	669					A	23345402	G	A	23345402	2	1	79	1	0	0	0	0	0	0	0	1	8990	1132	40	1		1	LRP10	14	23345402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33717	23345402	84004138	14446	24763											
REM2	161253	broad.mit.edu	37	chr14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgttggcagagttggacCggagcgggttaccctctgcc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000267396.4	+	2	280	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000536884.1_Missense_Mutation_p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	53					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(157-159)Cgg>Tgg		RAS (RAD and GEM)-like GTP binding 2							47	50	49					14																	23353936		1937	4131	6068	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23353936C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.157C>T	14.37:g.23353936C>T	ENSP00000267396:p.Arg53Trp					REM2_ENST00000536884.1_Missense_Mutation_p.R53W	p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	280	+	all_cancers(95;4.69e-05)		53					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.157C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028516	0.35797	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.21	5.82	3.98	0.46160	.	0.626172	0.16062	N	0.231414	T	0.51550	0.1681	N	0.19112	0.55	0.29543	N	0.851932	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.52102	-0.8620	10	0.87932	D	0	.	10.6536	0.45663	0.1317:0.7978:0.0:0.0705	.	53;53	B7Z5P1;Q8IYK8	.;REM2_HUMAN	W	53	ENSP00000267396:R53W;ENSP00000442774:R53W	ENSP00000267396:R53W	R	+	1	2	REM2	22423776	0.197000	0.23362	0.944000	0.38274	0.268000	0.26511	0.611000	0.24268	0.785000	0.33685	0.655000	0.94253	CGG		0.547	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		55	259	0	0	0	1	0	55	259					T	23353936	C	T	23353936	3	4	79	1	0	0	0	0	1	0	0	0	13273	643	23	1	163	1	REM2	14	23353936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8534	23353936	83995604	14447	24764											
REM2	161253	broad.mit.edu	37	chr14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaacttgactggccacCtcaggcctcatcctctggct	9	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000267396.4	+	2	392	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000536884.1_Missense_Mutation_p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	90					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(268-270)cCt>cTt		RAS (RAD and GEM)-like GTP binding 2							39	44	42					14																	23354048		2177	4273	6450	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354048C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.269C>T	14.37:g.23354048C>T	ENSP00000267396:p.Pro90Leu					REM2_ENST00000536884.1_Missense_Mutation_p.P90L	p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	392	+	all_cancers(95;4.69e-05)		90					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.269C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508339	0.64410	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68181	-0.31;1.21	5.88	5.88	0.94601	.	0.213901	0.39909	N	0.001222	T	0.64461	0.2600	L	0.29908	0.895	0.58432	D	0.999997	P;B	0.45827	0.867;0.164	P;B	0.48030	0.564;0.06	T	0.65240	-0.6216	10	0.49607	T	0.09	.	17.1447	0.86763	0.0:1.0:0.0:0.0	.	90;90	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	90	ENSP00000267396:P90L;ENSP00000442774:P90L	ENSP00000267396:P90L	P	+	2	0	REM2	22423888	0.085000	0.21516	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	2.778000	0.95560	0.655000	0.94253	CCT		0.632	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		31	294	0	0	0	1	0	31	294					T	23354048	C	T	23354048	3	4	79	1	0	0	0	0	1	0	0	0	13273	681	24	2	275	2	REM2	14	23354048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	23354048	83995492	14448	24765											
REM2	161253	broad.mit.edu	37	chr14	23354091	23354091	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgactccttgggctcaggGgaggcagcccctgctcaaaa	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354091G>T	ENST00000267396.4	+	2	435	c.312G>T	c.(310-312)ggG>ggT	p.G104G	REM2_ENST00000536884.1_Silent_p.G104G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	104					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TGGGCTCAGGGGAGGCAGCCC	0.617																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(310-312)ggG>ggT		RAS (RAD and GEM)-like GTP binding 2							43	48	46					14																	23354091		2174	4280	6454	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354091G>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.312G>T	14.37:g.23354091G>T						REM2_ENST00000536884.1_Silent_p.G104G	p.G104G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	435	+	all_cancers(95;4.69e-05)		104					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.312G>T	CCDS45082.1																																																																																				0.617	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		53	259	1	0	9.57592e-29	1	1.11608e-28	53	259					T	23354091	G	T	23354091	2	4	79	1	0	0	0	0	0	0	0	1	13273	1219	43	3		3	REM2	14	23354091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	23354091	83995449	14449	24766											
PRMT5	10419	broad.mit.edu	37	chr14	23398403	23398403	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccgggatgactagtctgCccttctccgtccccgagttc	9	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23398403C>A	ENST00000324366.8	-	1	334				RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.G11V|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Intron|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GACTAGTCTGCCCTTCTCCGT	0.627																																						ENST00000397441.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(31-33)gGc>gTc		protein arginine methyltransferase 5							69	75	73					14																	23398403		2203	4300	6503	SO:0001627	intron_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398403C>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+57G>T	14.37:g.23398403C>A						PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000553641.1_Intron	p.G11V	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	207	-	all_cancers(95;2.76e-05)		0					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.32G>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	7.435	0.639509	0.14386	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	5.16	-0.233	0.13078	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.24885	N	0.992208	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.17979	0.02;0.014;0.02	T	0.23261	-1.0193	8	0.27785	T	0.31	.	7.324	0.26545	0.0:0.4492:0.0:0.5508	.	11;11;11	B4DX49;A8MTP3;A8MZ91	.;.;.	V	11	.	ENSP00000216350:G11V	G	-	2	0	PRMT5	22468243	0.841000	0.29509	0.943000	0.38184	0.694000	0.40290	0.187000	0.16998	0.056000	0.16144	-0.253000	0.11424	GGC		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			80	403	1	0	7.68447e-34	1	9.12355e-34	80	403					A	23398403	C	A	23398403	1	1	79	0	1	0	0	0	0	0	0	0	12586	739	26	3		3	PRMT5	14	23398403	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44312	23398403	83951137	14450	24767											
PSMB5	5693	broad.mit.edu	37	chr14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagctgcaatccgctgCgcccccagccatggtgccta	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000361611.6	-	2	585	c.322G>A	c.(322-324)Gca>Aca	p.A108T	PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.A108T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CAATCCGCTGCGCCCCCAGCC	0.552																																						ENST00000361611.6																			1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(322-324)Gca>Aca		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						67	63	65					14																	23502760		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23502760C>T	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.322G>A	14.37:g.23502760C>T	ENSP00000355325:p.Ala108Thr					PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T	p.A108T	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	2	585	-	all_cancers(95;3.3e-05)		108					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.322G>A	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749066	0.89753	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762	T;T;T	0.36699	1.24;1.24;1.24	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.99590	4.645	0.80722	D	1	P;D	0.76494	0.92;0.999	B;P	0.62014	0.109;0.897	D	0.87643	0.2523	10	0.87932	D	0	-1.9348	16.8115	0.85722	0.0:1.0:0.0:0.0	.	108;108	P28074-2;P28074	.;PSB5_HUMAN	T	108;108;5	ENSP00000355325:A108T;ENSP00000452424:A108T;ENSP00000395206:A5T	ENSP00000334973:A108T	A	-	1	0	PSMB5	22572600	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.476000	0.60216	2.237000	0.73441	0.561000	0.74099	GCA		0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		37	282	0	0	0	1	0	37	282					T	23502760	C	T	23502760	3	4	79	1	0	0	0	0	1	0	0	0	12727	768	27	1	566	1	PSMB5	14	23502760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104357	23502760	83846780	14451	24768											
ACIN1	22985	broad.mit.edu	37	chr14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctctctctctctccCtgtccctctcccgactgtgc	4	21	4	0	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|CDH24_ENST00000397359.3_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3865-3867)aGg>aTg		apoptotic chromatin condensation inducer 1							106	82	90					14																	23528517		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528517C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3866G>T	14.37:g.23528517C>A	ENSP00000262710:p.Arg1289Met		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M	p.R1289M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4193	-	all_cancers(95;1.36e-05)		1289			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3866G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042506	0.55003	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.29	4.29	0.51040	.	0.000000	0.37483	N	0.002076	T	0.63558	0.2521	N	0.24115	0.695	0.45161	D	0.998177	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.982;0.982	D;D;D;P;P	0.74348	0.983;0.962;0.962;0.629;0.629	T	0.69057	-0.5246	10	0.72032	D	0.01	-8.6477	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1276;1289;1249;562;531	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	530;562;531;1289;1249;531;1276	ENSP00000451138:R530M;ENSP00000345541:R562M;ENSP00000350073:R531M;ENSP00000262710:R1289M;ENSP00000405677:R1249M;ENSP00000380502:R531M;ENSP00000451328:R1276M	ENSP00000262710:R1289M	R	-	2	0	ACIN1	22598357	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.905000	0.39878	2.379000	0.81126	0.563000	0.77884	AGG		0.612	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		59	241	1	0	7.36392e-32	1	8.68075e-32	59	241					A	23528517	C	A	23528517	3	1	79	1	0	0	0	0	1	0	0	0	142	681	24	3	163	3	ACIN1	14	23528517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25757	23528517	83821023	14452	24769											
ACIN1	22985	broad.mit.edu	37	chr14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccagctgtcggttccGttcccgctcggcttccttct	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|CDH24_ENST00000397359.3_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3811-3813)Cgg>Tgg		apoptotic chromatin condensation inducer 1							114	91	99					14																	23528572		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528572G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3811C>T	14.37:g.23528572G>A	ENSP00000262710:p.Arg1271Trp		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W	p.R1271W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4138	-	all_cancers(95;1.36e-05)		1271			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3811C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608797	0.28623	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.14	3.24	0.37175	.	0.000000	0.37393	N	0.002103	T	0.42675	0.1213	N	0.24115	0.695	0.42351	D	0.992378	D;D;D;P;P	0.64830	0.994;0.99;0.975;0.912;0.912	P;B;B;B;B	0.47102	0.537;0.336;0.336;0.082;0.082	T	0.46498	-0.9187	10	0.87932	D	0	-8.9988	10.8207	0.46604	0.0:0.0:0.8102:0.1898	.	1258;1271;1231;544;513	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	512;544;513;1271;1231;513;1258	ENSP00000451138:R512W;ENSP00000345541:R544W;ENSP00000350073:R513W;ENSP00000262710:R1271W;ENSP00000405677:R1231W;ENSP00000380502:R513W;ENSP00000451328:R1258W	ENSP00000262710:R1271W	R	-	1	2	ACIN1	22598412	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.283000	0.33237	1.074000	0.40909	0.563000	0.77884	CGG		0.632	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		48	228	0	0	0	1	0	48	228					A	23528572	G	A	23528572	3	1	79	1	0	0	0	0	1	0	0	0	142	1144	40	1	218	1	ACIN1	14	23528572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	23528572	83820968	14453	24770											
CEBPE	1053	broad.mit.edu	37	chr14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatgccaggccccagcGccttcctgtctgggccgaag	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	101					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(301-303)gCg>gTg		CCAAT/enhancer binding protein (C/EBP), epsilon							24	24	24					14																	23587999		2203	4299	6502	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587999G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.302C>T	14.37:g.23587999G>A	ENSP00000206513:p.Ala101Val						p.A101V	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	826	-	all_cancers(95;4.6e-05)		101					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.302C>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	4.51	2.57	0.30868	.	0.398028	0.23991	N	0.042566	T	0.13372	0.0324	N	0.08118	0	0.22253	N	0.999259	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	10	0.12766	T	0.61	-9.1206	9.9605	0.41693	0.0907:0.1529:0.7564:0.0	.	101	Q15744	CEBPE_HUMAN	V	101	ENSP00000206513:A101V	ENSP00000206513:A101V	A	-	2	0	CEBPE	22657839	0.999000	0.42202	0.806000	0.32338	0.994000	0.84299	2.808000	0.47963	1.094000	0.41399	0.561000	0.74099	GCG		0.701	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		38	170	0	0	0	1	0	38	170					A	23587999	G	A	23587999	3	1	79	1	0	0	0	0	1	0	0	0	3211	1087	38	1	551	1	CEBPE	14	23587999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59427	23587999	83761541	14454	24771											
SLC7A8	23428	broad.mit.edu	37	chr14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattctcaaatgcattcTttggctccagccagaagtac	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000316902.7	-	5	1384	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(658-660)aAg>aCg		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						122	121	121					14																	23609809		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23609809T>G	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.659A>C	14.37:g.23609809T>G	ENSP00000320378:p.Lys220Thr					SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T	p.K220T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	5	1384	-	all_cancers(95;4.6e-05)		220					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.659A>C	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301603	0.40694	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89270	-2.49;-2.49;-2.22;-2.49	4.81	4.81	0.61882	Amino acid permease domain (1);	0.116516	0.64402	D	0.000020	T	0.76227	0.3958	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.18263	0.021;0.006;0.005	T	0.71220	-0.4657	10	0.22706	T	0.39	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	115;220;220	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	T	220;17;220;17;115;17	ENSP00000320378:K220T;ENSP00000435114:K220T;ENSP00000391577:K17T;ENSP00000434345:K115T	ENSP00000206514:K17T	K	-	2	0	SLC7A8	22679649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.946000	0.56461	0.460000	0.39030	AAG		0.567	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			145	625	0	0	0	1	0	145	625					G	23609809	T	G	23609809	3	3	79	1	0	0	0	0	1	0	0	0	14754	1609	56	4	976	4	SLC7A8	14	23609809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21810	23609809	83739731	14455	24772											
PABPN1	8106	broad.mit.edu	37	chr14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgagcccgctaccgcGcccggaccaccaactacaac	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793419G>A	ENST00000216727.4	+	6	983	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|PABPN1_ENST00000397276.2_Missense_Mutation_p.A268T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	268	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(802-804)Gcc>Acc		poly(A) binding protein, nuclear 1							77	78	78					14																	23793419		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793419G>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.802G>A	14.37:g.23793419G>A	ENSP00000216727:p.Ala268Thr					BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T|PABPN1_ENST00000216727.4_Missense_Mutation_p.A268T	p.A268T						GBM - Glioblastoma multiforme(265;0.00643)	6	815	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.802G>A	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804591|2.804591	0.50315|0.50315	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|T	0.74315|0.75367	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|-0.93	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.063724|.	0.64402|.	D|.	0.000006|.	T|T	0.76378|0.76378	0.3979|0.3979	L|L	0.39898|0.39898	1.24|1.24	0.35639|0.35639	D|D	0.810858|0.810858	B;P;B|.	0.41265|.	0.099;0.744;0.395|.	B;B;B|.	0.34590|.	0.018;0.186;0.18|.	T|T	0.78432|0.78432	-0.2206|-0.2206	10|6	0.33141|.	T|.	0.24|.	-7.9693|-7.9693	18.1036|18.1036	0.89513|0.89513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268;295|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	T|H	295;295;268;268;140;140|67	ENSP00000451320:A295T;ENSP00000452479:A295T;ENSP00000216727:A268T;ENSP00000380446:A268T;ENSP00000451970:A140T;ENSP00000450724:A140T|ENSP00000451592:R67H	ENSP00000216727:A268T|.	A|R	+|+	1|2	0|0	PABPN1;RP11-124D2.2|PABPN1	22863259|22863259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.232000|5.232000	0.65332|0.65332	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.567	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		25	507	0	0	0	1	0	25	507					A	23793419	G	A	23793419	3	1	79	1	0	0	0	0	1	0	0	0	11410	1087	38	1	824	1	PABPN1	14	23793419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183610	23793419	83556121	14456	24773											
PABPN1	8106	broad.mit.edu	37	chr14	23793489	23793489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagcaggccccggggtcGcgtctacaggtcaggataga	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793489G>A	ENST00000216727.4	+	6	1053	c.872G>A	c.(871-873)cGc>cAc	p.R291H	AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|PABPN1_ENST00000397276.2_Missense_Mutation_p.R291H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	291	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632																																						ENST00000397276.2																			1	Substitution - Missense(1)	p.R291L(1)	lung(1)	large_intestine(1)|lung(1)|ovary(2)	4						c.(871-873)cGc>cAc		poly(A) binding protein, nuclear 1							75	76	76					14																	23793489		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793489G>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.872G>A	14.37:g.23793489G>A	ENSP00000216727:p.Arg291His					BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H|PABPN1_ENST00000216727.4_Missense_Mutation_p.R291H	p.R291H						GBM - Glioblastoma multiforme(265;0.00643)	6	885	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.872G>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123026	0.77436	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.61392	2.68;2.68;0.11;0.38;2.02;2.04	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.80764	0.987;0.994;0.731	T	0.74438	-0.3665	10	0.46703	T	0.11	-20.7803	18.1036	0.89513	0.0:0.0:1.0:0.0	.	291;291;318	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	H	318;318;291;291;163;163	ENSP00000451320:R318H;ENSP00000452479:R318H;ENSP00000216727:R291H;ENSP00000380446:R291H;ENSP00000451970:R163H;ENSP00000450724:R163H	ENSP00000216727:R291H	R	+	2	0	PABPN1;RP11-124D2.2	22863329	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	8.878000	0.92393	2.581000	0.87130	0.655000	0.94253	CGC		0.632	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		16	657	0	0	0	1	0	16	657					A	23793489	G	A	23793489	3	1	79	1	0	0	0	0	1	0	0	0	11410	1087	38	1	894	1	PABPN1	14	23793489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70	23793489	83556051	14457	24774											
SLC22A17	51310	broad.mit.edu	37	chr14	23821156	23821156	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgcctggccgcctcaCctggccgatggcgttggtgg	16	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000206544.8	-	1	604		c.e1+1		SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCGCCTCACCTGGCCGATG	0.692																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.e2+1		solute carrier family 22, member 17							19	20	19					14																	23821156		2195	4291	6486	SO:0001630	splice_region_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821156C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.267+1G>A	14.37:g.23821156C>T						SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site		NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	771	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	37		CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270684	0.59540	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7391	0.46143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22890996	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.987000	0.29603	1.867000	0.54127	0.462000	0.41574	.		0.692	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	Intron	30	122	0	0	0	1	0	30	122					T	23821156	C	T	23821156	5	4	79	1	0	0	0	0	0	0	1	0	14498	521	18	2	1384	2	SLC22A17	14	23821156	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27667	23821156	83528384	14458	24775											
SLC22A17	51310	broad.mit.edu	37	chr14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaggggtcggtactggTggcgacacggctggcggcgc	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000206544.8	-	1	493	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000354772.3_Missense_Mutation_p.T53A|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	53					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(157-159)Acc>Gcc		solute carrier family 22, member 17							25	21	23					14																	23821267		2198	4295	6493	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821267T>C	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.157A>G	14.37:g.23821267T>C	ENSP00000206544:p.Thr53Ala					SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000206544.8_Missense_Mutation_p.T53A|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR	p.T53A	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	660	-	all_cancers(95;7.12e-06)		53					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.157A>G	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251576	0.10185	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.54675	0.56;0.56;0.56	2.86	2.86	0.33363	Major facilitator superfamily domain (1);	0.421812	0.19588	U	0.110689	T	0.38746	0.1052	N	0.08118	0	0.29215	N	0.874315	D;P;P	0.56287	0.975;0.732;0.613	P;B;B	0.58130	0.833;0.124;0.058	T	0.22243	-1.0222	10	0.08179	T	0.78	-17.3251	7.5483	0.27781	0.0:0.0:0.0:1.0	.	53;53;53	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	A	53	ENSP00000346824:T53A;ENSP00000206544:T53A;ENSP00000380437:T53A	ENSP00000206544:T53A	T	-	1	0	SLC22A17	22891107	0.862000	0.29867	0.996000	0.52242	0.985000	0.73830	0.351000	0.20096	1.557000	0.49525	0.379000	0.24179	ACC		0.662	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		19	77	0	0	0	1	0	19	77					C	23821267	T	C	23821267	3	2	79	1	0	0	0	0	1	0	0	0	14498	1696	59	4	1495	4	SLC22A17	14	23821267	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111	23821267	83528273	14459	24776											
SLC22A17	51310	broad.mit.edu	37	chr14	23821354	23821354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgctcccagccagaggCattaggggggaaggccccgt	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	ENST00000206544.8	-	1	406	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_ENST00000354772.3_Missense_Mutation_p.A24T|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	24					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCAGAGGCATTAGGGGGG	0.706																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(70-72)Gcc>Acc		solute carrier family 22, member 17							8	9	9					14																	23821354		2181	4246	6427	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821354C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.70G>A	14.37:g.23821354C>T	ENSP00000206544:p.Ala24Thr					SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000206544.8_Missense_Mutation_p.A24T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR	p.A24T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	573	-	all_cancers(95;7.12e-06)		24					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.70G>A	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193186	0.22037	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.68025	-0.3;-0.26;-0.26	3.72	2.82	0.32997	.	0.209202	0.30890	U	0.008668	T	0.34629	0.0904	N	0.08118	0	0.23708	N	0.997058	B;P;P	0.48694	0.0;0.914;0.86	B;B;B	0.35182	0.002;0.197;0.129	T	0.20907	-1.0261	10	0.22109	T	0.4	-2.203	5.8303	0.18577	0.0:0.7573:0.0:0.2427	.	24;24;24	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	T	24	ENSP00000346824:A24T;ENSP00000206544:A24T;ENSP00000380437:A24T	ENSP00000206544:A24T	A	-	1	0	SLC22A17	22891194	0.000000	0.05858	0.865000	0.33974	0.097000	0.18754	0.050000	0.14120	0.768000	0.33290	0.462000	0.41574	GCC		0.706	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		7	63	0	0	0	1	0	7	63					T	23821354	C	T	23821354	3	4	79	1	0	0	0	0	1	0	0	0	14498	710	25	2	1582	2	SLC22A17	14	23821354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	23821354	83528186	14460	24777											
EFS	10278	broad.mit.edu	37	chr14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccgccctccccgtctGccagcagttcctcgggtgct	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.A148V	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	241	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(721-723)gCa>gTa		embryonal Fyn-associated substrate							49	58	55					14																	23828965		2203	4298	6501	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828965G>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.722C>T	14.37:g.23828965G>A	ENSP00000216733:p.Ala241Val					EFS_ENST00000351354.3_Missense_Mutation_p.A148V|EFS_ENST00000429593.2_Intron	p.A241V	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1329	-	all_cancers(95;7.12e-06)		241			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.722C>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967102	0.34754	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.93	4.62	0.251	0.15540	.	1.158660	0.06436	N	0.724990	T	0.45135	0.1327	L	0.44542	1.39	0.09310	N	1	B;B	0.31548	0.328;0.043	B;B	0.30495	0.116;0.025	T	0.32955	-0.9887	10	0.34782	T	0.22	0.304	3.6496	0.08198	0.0898:0.1478:0.4939:0.2685	.	148;241	O43281-2;O43281	.;EFS_HUMAN	V	241;148	ENSP00000216733:A241V;ENSP00000340607:A148V	ENSP00000216733:A241V	A	-	2	0	EFS	22898805	0.014000	0.17966	0.011000	0.14972	0.929000	0.56500	0.208000	0.17415	0.156000	0.19299	0.563000	0.77884	GCA		0.657	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			118	447	0	0	0	1	0	118	447					A	23828965	G	A	23828965	3	1	79	1	0	0	0	0	1	0	0	0	4975	1319	46	2	975	2	EFS	14	23828965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7611	23828965	83520575	14461	24778											
MYH6	4624	broad.mit.edu	37	chr14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctcagcctgcagcaGgttgttgcgccgctccacga	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000356287.3	-	33	5073	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGCAGCAGGTTGTTGCGC	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5044-5046)Ctg>Atg		myosin, heavy chain 6, cardiac muscle, alpha							72	61	65					14																	23855256		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855256G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5044C>A	14.37:g.23855256G>T	ENSP00000348634:p.Leu1682Met					MYH6_ENST00000356287.3_Missense_Mutation_p.L1682M	p.L1682M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	34	5114	-	all_cancers(95;2.54e-05)		1682					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5044C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879769	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.2	4.2	0.49525	Myosin tail (1);	.	.	.	.	D	0.90010	0.6881	M	0.82823	2.61	0.47245	D	0.999362	D	0.61080	0.989	D	0.71656	0.974	D	0.90520	0.4488	9	0.59425	D	0.04	.	10.5855	0.45280	0.09:0.0:0.91:0.0	.	1682	P13533	MYH6_HUMAN	M	1682	ENSP00000386041:L1682M;ENSP00000348634:L1682M	ENSP00000348634:L1682M	L	-	1	2	MYH6	22925096	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.145000	0.58065	2.048000	0.60808	0.561000	0.74099	CTG		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			14	305	1	0	0.00185496	1	0.00187281	14	305					T	23855256	G	T	23855256	3	4	79	1	0	0	0	0	1	0	0	0	10079	991	35	3	799	3	MYH6	14	23855256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26291	23855256	83494284	14462	24779											
MYH6	4624	broad.mit.edu	37	chr14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctccttctcctagctgctCagtaaggtccgagatttcct	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000356287.3	-	31	4575	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1516					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTAGCTGCTCAGTAAGGTCC	0.587																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4546-4548)Gag>Aag		myosin, heavy chain 6, cardiac muscle, alpha							91	78	82					14																	23856842		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23856842C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4546G>A	14.37:g.23856842C>T	ENSP00000348634:p.Glu1516Lys					MYH6_ENST00000356287.3_Missense_Mutation_p.E1516K	p.E1516K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4616	-	all_cancers(95;2.54e-05)		1516					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4546G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.552207	0.96501	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.62	4.62	0.57501	Myosin tail (1);	.	.	.	.	D	0.90058	0.6895	M	0.90542	3.125	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	D	0.92497	0.6005	9	0.72032	D	0.01	.	17.8518	0.88748	0.0:1.0:0.0:0.0	.	1516	P13533	MYH6_HUMAN	K	1516	ENSP00000386041:E1516K;ENSP00000348634:E1516K	ENSP00000348634:E1516K	E	-	1	0	MYH6	22926682	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.632000	0.83247	2.283000	0.76528	0.549000	0.68633	GAG		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			67	349	0	0	0	1	0	67	349					T	23856842	C	T	23856842	3	4	79	1	0	0	0	0	1	0	0	0	10079	835	29	2	1305	2	MYH6	14	23856842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586	23856842	83492698	14463	24780											
MYH6	4624	broad.mit.edu	37	chr14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgaggagcacttgGcattaacagcctccacggcc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000356287.3	-	29	4261	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1411					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCACTTGGCATTAACAGC	0.597																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4231-4233)gCc>gTc		myosin, heavy chain 6, cardiac muscle, alpha							111	107	108					14																	23857491		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857491G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4232C>T	14.37:g.23857491G>A	ENSP00000348634:p.Ala1411Val					MYH6_ENST00000356287.3_Missense_Mutation_p.A1411V	p.A1411V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	30	4302	-	all_cancers(95;2.54e-05)		1411					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4232C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907586	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78816	-1.21;-1.21	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.87822	0.6274	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89631	0.3855	9	0.87932	D	0	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	1411	P13533	MYH6_HUMAN	V	1411	ENSP00000386041:A1411V;ENSP00000348634:A1411V	ENSP00000348634:A1411V	A	-	2	0	MYH6	22927331	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.441000	0.97557	2.292000	0.77174	0.561000	0.74099	GCC		0.597	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			122	438	0	0	0	1	0	122	438					A	23857491	G	A	23857491	3	1	79	1	0	0	0	0	1	0	0	0	10079	1203	42	2	1627	2	MYH6	14	23857491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649	23857491	83492049	14464	24781											
MYH6	4624	broad.mit.edu	37	chr14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggggttggcctggatgaTctggtcctccagggtgccct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000356287.3	-	7	690	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000405093.3_Missense_Mutation_p.I221L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGGATGATCTGGTCCTCC	0.612																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(661-663)Atc>Ctc		myosin, heavy chain 6, cardiac muscle, alpha							127	107	114					14																	23873579		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23873579T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.661A>C	14.37:g.23873579T>G	ENSP00000348634:p.Ile221Leu					MYH6_ENST00000356287.3_Missense_Mutation_p.I221L	p.I221L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	8	731	-	all_cancers(95;2.54e-05)		221			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.661A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.194954	0.78902	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88046	-2.33;-2.33	3.21	3.21	0.36854	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.66297	2.02	0.52501	D	0.99995	P;P	0.35107	0.484;0.484	D;D	0.65010	0.931;0.931	D	0.92625	0.6111	9	0.72032	D	0.01	.	11.6217	0.51121	0.0:0.0:0.0:1.0	.	221;221	D9YZU2;P13533	.;MYH6_HUMAN	L	221	ENSP00000386041:I221L;ENSP00000348634:I221L	ENSP00000348634:I221L	I	-	1	0	MYH6	22943419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.573000	0.82421	1.467000	0.48044	0.247000	0.18012	ATC		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			106	529	0	0	0	1	0	106	529					G	23873579	T	G	23873579	3	3	79	1	0	0	0	0	1	0	0	0	10079	1435	50	4	5286	4	MYH6	14	23873579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16088	23873579	83475961	14465	24782											
MYH7	4625	broad.mit.edu	37	chr14	23886420	23886420	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttccagggactcctcataGgcgttcttgagtttgaagag	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCTCATAGGCGTTCTTGA	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4459-4461)gcC>gcA		myosin, heavy chain 7, cardiac muscle, beta							120	125	123					14																	23886420		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886420G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4461C>A	14.37:g.23886420G>T							p.A1487A	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4623	-	all_cancers(95;2.54e-05)		1487					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4461C>A	CCDS9601.1																																																																																				0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		147	752	1	0	9.15414e-77	1	1.16831e-76	147	752					T	23886420	G	T	23886420	2	4	79	1	0	0	0	0	0	0	0	1	10080	987	35	3		3	MYH7	14	23886420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12841	23886420	83463120	14466	24783											
MYH7	4625	broad.mit.edu	37	chr14	23894565	23894565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatacgcgtgatgatGcggctcagcctctcgtccct	12	14	2	2	rs139882431	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23894565G>A	ENST00000355349.3	-	21	2511	c.2349C>T	c.(2347-2349)cgC>cgT	p.R783R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	783	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGTGATGATGCGGCTCAGCC	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2347-2349)cgC>cgT		myosin, heavy chain 7, cardiac muscle, beta		G		1,4405	2.1+/-5.4	0,1,2202	94	79	84		2349	-1.1	1	14	dbSNP_134	84	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	MYH7	NM_000257.2		0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923		783/1936	23894565	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894565G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2349C>T	14.37:g.23894565G>A							p.R783R	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2511	-	all_cancers(95;2.54e-05)		783			IQ.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2349C>T	CCDS9601.1																																																																																				0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	323	0	0	0	1	0	8	323					A	23894565	G	A	23894565	2	1	79	1	0	0	0	0	0	0	0	1	10080	1306	46	2		2	MYH7	14	23894565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8145	23894565	83454975	14467	24784											
MYH7	4625	broad.mit.edu	37	chr14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtccctcagggatggccGctgggttcaggatgcgatac	14	11	2	0	rs121913644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	728	Myosin motor.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype). {ECO:0000269|PubMed:11424919}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGATGGCCGCTGGGTTCAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20584	0.0		0.0	False		,,,				2504	0.001					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM011799	MYH7	M	rs121913644	c.(2182-2184)gCg>gTg		myosin, heavy chain 7, cardiac muscle, beta		G	VAL/ALA	1,4405		0,1,2202	97	83	87	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2183	4.9	1	14	dbSNP_133	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYH7	NM_000257.2	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	728/1936	23895007	3,13003	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895007G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2183C>T	14.37:g.23895007G>A	ENSP00000347507:p.Ala728Val						p.A728V	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	20	2345	-	all_cancers(95;2.54e-05)		728		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2183C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983202	0.53827	2.27E-4	2.33E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87103	-2.21	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.86527	0.5954	M	0.69248	2.105	0.40086	D	0.976191	B	0.12013	0.005	B	0.19946	0.027	D	0.84935	0.0862	9	0.66056	D	0.02	.	15.4006	0.74838	0.0:0.139:0.861:0.0	.	728	P12883	MYH7_HUMAN	V	728	ENSP00000347507:A728V	ENSP00000347507:A728V	A	-	2	0	MYH7	22964847	0.004000	0.15560	0.988000	0.46212	0.917000	0.54804	1.385000	0.34408	2.531000	0.85337	0.655000	0.94253	GCG		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		61	280	0	0	0	1	0	61	280					A	23895007	G	A	23895007	3	1	79	1	0	0	0	0	1	0	0	0	10080	1087	38	1	3708	1	MYH7	14	23895007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	23895007	83454533	14468	24785											
MYH7	4625	broad.mit.edu	37	chr14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcctttcctgcagatgCggatgccctccagcacacca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R703H(1)	ovary(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2107-2109)cGc>cAc		myosin, heavy chain 7, cardiac muscle, beta							58	54	56					14																	23895227		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895227C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2108G>A	14.37:g.23895227C>T	ENSP00000347507:p.Arg703His						p.R703H	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	19	2270	-	all_cancers(95;2.54e-05)		703			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2108G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		27	187	0	0	0	1	0	27	187					T	23895227	C	T	23895227	3	4	79	1	0	0	0	0	1	0	0	0	10080	768	27	1	3787	1	MYH7	14	23895227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	23895227	83454313	14469	24786											
MYH7	4625	broad.mit.edu	37	chr14	23900200	23900200	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaaataactctggatttttCcagaagatctgtgaacaggt	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23900200C>A	ENST00000355349.3	-	10	967	c.805G>T	c.(805-807)Gaa>Taa	p.E269*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	269	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGATTTTTCCAGAAGATCT	0.408																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(805-807)Gaa>Taa		myosin, heavy chain 7, cardiac muscle, beta							66	72	70					14																	23900200		2202	4300	6502	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900200C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.805G>T	14.37:g.23900200C>A	ENSP00000347507:p.Glu269*						p.E269*	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	10	967	-	all_cancers(95;2.54e-05)		269			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.805G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	37	6.208540	0.97376	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4652	0.75394	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000347507:E269X	E	-	1	0	MYH7	22970040	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.395000	0.79876	1.862000	0.54008	0.305000	0.20034	GAA		0.408	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	471	1	0	0.0477658	1	0.0478703	9	471					A	23900200	C	A	23900200	4	1	79	1	0	0	0	0	0	1	0	0	10080	864	30	3	5126	3	MYH7	14	23900200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4973	23900200	83449340	14470	24787											
AP1G2	8906	broad.mit.edu	37	chr14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcttagttccaGggctctcctggcaggagaaa	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	367					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTTAGTTCCAGGGCTCTCCTG	0.592																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1099-1101)Ctg>Atg		adaptor-related protein complex 1, gamma 2 subunit							60	56	58					14																	24033058		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033058G>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1099C>A	14.37:g.24033058G>T	ENSP00000312442:p.Leu367Met					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	p.L367M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	11	1854	-	all_cancers(95;0.000251)		367					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.1099C>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921950	0.17982	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.39997	1.05;1.05	4.71	3.82	0.43975	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.33440	0.0863	N	0.25144	0.715	0.53688	D	0.999977	P;P	0.41597	0.605;0.756	B;P	0.48704	0.264;0.587	T	0.06716	-1.0811	10	0.29301	T	0.29	-8.8989	6.1505	0.20308	0.0953:0.0:0.722:0.1827	.	367;222	O75843;Q86V28	AP1G2_HUMAN;.	M	367;367;136;222	ENSP00000312442:L367M;ENSP00000380309:L367M	ENSP00000312442:L367M	L	-	1	2	AP1G2	23102898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.203000	0.42752	1.180000	0.42898	0.557000	0.71058	CTG		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		44	281	1	0	1.8453e-21	1	2.07902e-21	44	281					T	24033058	G	T	24033058	3	4	79	1	0	0	0	0	1	0	0	0	733	991	35	3	1302	3	AP1G2	14	24033058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132858	24033058	83316482	14471	24788											
AP1G2	8906	broad.mit.edu	37	chr14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactgttgagtaggaagCgaccaagaatgttgacagct	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	316					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAGTAGGAAGCGACCAAGAAT	0.532																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(946-948)cGc>cAc		adaptor-related protein complex 1, gamma 2 subunit							150	121	131					14																	24033572		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033572C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.947G>A	14.37:g.24033572C>T	ENSP00000312442:p.Arg316His					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	p.R316H	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	9	1702	-	all_cancers(95;0.000251)		316					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.947G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434074	0.83776	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28454	1.61;1.61	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76868	-0.2800	10	0.87932	D	0	-6.1322	14.4989	0.67707	0.0:1.0:0.0:0.0	.	316;171	O75843;Q86V28	AP1G2_HUMAN;.	H	316;316;85;171	ENSP00000312442:R316H;ENSP00000380309:R316H	ENSP00000312442:R316H	R	-	2	0	AP1G2	23103412	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.751000	0.62169	2.269000	0.75478	0.557000	0.71058	CGC		0.532	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		46	300	0	0	0	1	0	46	300					T	24033572	C	T	24033572	3	4	79	1	0	0	0	0	1	0	0	0	733	768	27	1	1462	1	AP1G2	14	24033572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	514	24033572	83315968	14472	24789											
JPH4	84502	broad.mit.edu	37	chr14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaggctccgtgcctgCtggggccctcagcgggggca	18	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000397118.3	-	6	2580	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	560					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1678-1680)Gca>Aca		junctophilin 4							45	50	48					14																	24040262		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040262C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1678G>A	14.37:g.24040262C>T	ENSP00000380307:p.Ala560Thr					JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T	p.A560T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2580	-	all_cancers(95;0.000251)		560					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1678G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856914	0.71834	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.56611	0.45;0.45;0.91	5.08	4.13	0.48395	.	0.764876	0.10176	U	0.706458	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.037	B;B	0.23574	0.047;0.013	T	0.05801	-1.0863	10	0.14252	T	0.57	.	12.0487	0.53495	0.0:0.8254:0.1746:0.0	.	225;560	F5H1L9;Q96JJ6	.;JPH4_HUMAN	T	560;560;560;561;225	ENSP00000348648:A560T;ENSP00000380307:A560T;ENSP00000439562:A225T	ENSP00000267407:A561T	A	-	1	0	JPH4	23110102	0.002000	0.14202	0.777000	0.31699	0.900000	0.52787	1.311000	0.33562	2.518000	0.84900	0.655000	0.94253	GCA		0.677	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		127	469	0	0	0	1	0	127	469					T	24040262	C	T	24040262	3	4	79	1	0	0	0	0	1	0	0	0	7993	797	28	2	216	2	JPH4	14	24040262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6690	24040262	83309278	14473	24790											
JPH4	84502	broad.mit.edu	37	chr14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcccacctggcagcggCgatctcctggcgctgacggg	16	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000356300.4_Missense_Mutation_p.A381T|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1141-1143)Gcc>Acc		junctophilin 4							11	12	12					14																	24044904		2181	4283	6464	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24044904C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1141G>A	14.37:g.24044904C>T	ENSP00000380307:p.Ala381Thr					JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	2043	-	all_cancers(95;0.000251)		381					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1141G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	JPH4	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC		0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		14	62	0	0	0	1	0	14	62					T	24044904	C	T	24044904	3	4	79	1	0	0	0	0	1	0	0	0	7993	768	27	1	761	1	JPH4	14	24044904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4642	24044904	83304636	14474	24791											
JPH4	84502	broad.mit.edu	37	chr14	24045124	24045124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggttgcccagccactcGccctcgtagcgcagcccgtt	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000356300.4_Silent_p.G307G|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	307					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(919-921)ggC>ggT		junctophilin 4							7	8	7					14																	24045124		1863	3754	5617	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045124G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.921C>T	14.37:g.24045124G>A						JPH4_ENST00000356300.4_Silent_p.G307G	p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1823	-	all_cancers(95;0.000251)		307					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.921C>T	CCDS9603.1																																																																																				0.741	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		16	108	0	0	0	1	0	16	108					A	24045124	G	A	24045124	2	1	79	1	0	0	0	0	0	0	0	1	7993	1074	38	1		1	JPH4	14	24045124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220	24045124	83304416	14475	24792											
DHRS4L2	317749	broad.mit.edu	37	chr14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttctccagggcttcagtcCttacaatgtcagtaaaacag	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	179						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCTTCAGTCCTTACAATGTC	0.478																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(541-543)cCt>cAt		dehydrogenase/reductase (SDR family) member 4 like 2							97	117	111					14																	24470603		2141	4300	6441	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24470603C>A		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.542C>A	14.37:g.24470603C>A	ENSP00000334801:p.Pro181His					DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron	p.P181H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	668	+			119					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.542C>A	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	7.332	0.619136	0.14129	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.87256	-2.23;0.69;-2.23	2.85	0.915	0.19366	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.98;0.948;0.988	T	0.79205	-0.1899	10	0.52906	T	0.07	.	6.6805	0.23117	0.0:0.7399:0.0:0.2601	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	H	119;181;106;179	ENSP00000334801:P181H;ENSP00000439942:P106H;ENSP00000372203:P179H	ENSP00000334801:P181H	P	+	2	0	DHRS4L2	23540443	0.998000	0.40836	0.148000	0.22405	0.107000	0.19398	4.550000	0.60733	0.091000	0.17302	0.194000	0.17425	CCT		0.478	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			117	632	1	0	4.37143e-48	1	5.39033e-48	117	632					A	24470603	C	A	24470603	3	1	79	1	0	0	0	0	1	0	0	0	4510	681	24	3	564	3	DHRS4L2	14	24470603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425479	24470603	82878937	14476	24793											
LRRC16B	90668	broad.mit.edu	37	chr14	24523715	24523715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaaggtctgccctggCcctgggtgagtggcaaataa	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	119						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTGCCCTGGCCCTGGGTGAG	0.582																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(355-357)ggC>ggT		leucine rich repeat containing 16B							68	59	62					14																	24523715		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24523715C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.357C>T	14.37:g.24523715C>T						LRRC16B_ENST00000334420.7_5'UTR	p.G119G	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	5	511	+			119					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.357C>T	CCDS32054.1																																																																																				0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		40	228	0	0	0	1	0	40	228					T	24523715	C	T	24523715	2	4	79	1	0	0	0	0	0	0	0	1	9010	726	26	2		2	LRRC16B	14	24523715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53112	24523715	82825825	14477	24794											
LRRC16B	90668	broad.mit.edu	37	chr14	24527939	24527939	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctgggagctgtcacCtgtgtaggcagcctggatct	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	481						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCTGTCACCTGTGTAGGCA	0.637											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(1441-1443)acC>acA		leucine rich repeat containing 16B							95	97	96					14																	24527939		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24527939C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1443C>A	14.37:g.24527939C>A			OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	LRRC16B_ENST00000334420.7_5'UTR	p.T481T	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	18	1597	+			481					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.1443C>A	CCDS32054.1																																																																																				0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		44	171	1	0	6.31075e-24	1	7.19376e-24	44	171					A	24527939	C	A	24527939	2	1	79	1	0	0	0	0	0	0	0	1	9010	668	24	3		3	LRRC16B	14	24527939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	24527939	82821601	14478	24795											
PCK2	5106	broad.mit.edu	37	chr14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagcttcccactggcattCgagattttgtagagcacagt	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000216780.4	+	2	401	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000560657.1_3'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	45					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(133-135)Cga>Tga		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							95	84	88					14																	24566204		2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566204C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.133C>T	14.37:g.24566204C>T	ENSP00000216780:p.Arg45*					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|NRL_ENST00000561028.1_Intron	p.R45*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	401	+			45					O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.133C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000904	0.54254	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.58	0.56647	.	0.179793	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0504	12.1787	0.54199	0.2581:0.7419:0.0:0.0	.	.	.	.	X	45	.	ENSP00000216780:R45X	R	+	1	2	PCK2	23636044	0.569000	0.26643	0.955000	0.39395	0.004000	0.04260	0.894000	0.28350	2.746000	0.94184	0.650000	0.86243	CGA		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		88	371	0	0	0	1	0	88	371					T	24566204	C	T	24566204	4	4	79	1	0	0	0	0	0	1	0	0	11624	876	31	1	139	1	PCK2	14	24566204	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38265	24566204	82783336	14479	24796											
PCK2	5106	broad.mit.edu	37	chr14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcagcgggacacggtaCaactcccgcctggtggggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000216780.4	+	3	629	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	121				Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(361-363)Caa>Taa		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							58	45	49					14																	24567497		2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24567497C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.361C>T	14.37:g.24567497C>T	ENSP00000216780:p.Gln121*					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|NRL_ENST00000561028.1_Intron	p.Q121*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	629	+			121	Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454).				O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.361C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478142	0.96291	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3507	16.1997	0.82060	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000216780:Q121X	Q	+	1	0	PCK2	23637337	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	7.487000	0.81328	2.419000	0.82065	0.462000	0.41574	CAA		0.627	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		36	168	0	0	0	1	0	36	168					T	24567497	C	T	24567497	4	4	79	1	0	0	0	0	0	1	0	0	11624	479	17	2	371	2	PCK2	14	24567497	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1293	24567497	82782043	14480	24797											
PCK2	5106	broad.mit.edu	37	chr14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctttgccctacgcatcGcctctcggctggcccgggat	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000216780.4	+	5	1073	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	269					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(403-405)Gcc>Acc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							45	41	42					14																	24568398		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24568398G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.805G>A	14.37:g.24568398G>A	ENSP00000216780:p.Ala269Thr					PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.A269T	p.A135T			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	1321	+			269					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.403G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854427	0.97030	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.63428	1.95	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;0.992;0.999;0.996	T	0.32798	-0.9893	10	0.87932	D	0	-19.0125	17.534	0.87822	0.0:0.0:1.0:0.0	.	135;269;269;269	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	269;269;135	ENSP00000216780:A269T;ENSP00000380171:A269T;ENSP00000441826:A135T	ENSP00000216780:A269T	A	+	1	0	PCK2	23638238	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.750000	0.94351	0.563000	0.77884	GCC		0.672	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		27	269	0	0	0	1	0	27	269					A	24568398	G	A	24568398	3	1	79	1	0	0	0	0	1	0	0	0	11624	1087	38	1	823	1	PCK2	14	24568398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	24568398	82781142	14481	24798											
DCAF11	80344	broad.mit.edu	37	chr14	24587623	24587623	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatccgactctatgactgcCgatatggccgtttccgtaaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24587623C>T	ENST00000446197.3	+	7	1331	c.604C>T	c.(604-606)Cga>Tga	p.R202*	DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000560171.1_3'UTR|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	202					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CTATGACTGCCGATATGGCCG	0.488																																						ENST00000446197.3																			0											c.(604-606)Cga>Tga		DDB1 and CUL4 associated factor 11							134	128	130					14																	24587623		2203	4300	6503	SO:0001587	stop_gained	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587623C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.604C>T	14.37:g.24587623C>T	ENSP00000415556:p.Arg202*					DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*	p.R202*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			7	1331	+			202					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Nonsense_Mutation	SNP	ENST00000446197.3	37	c.604C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	38	7.119805	0.98077	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.4	5.4	0.78164	.	0.241692	0.39834	N	0.001245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.2179	11.5785	0.50877	0.1777:0.8223:0.0:0.0	.	.	.	.	X	202;176;102;176	.	ENSP00000323680:R202X	R	+	1	2	DCAF11	23657463	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.172000	0.42463	2.805000	0.96524	0.655000	0.94253	CGA		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			122	547	0	0	0	1	0	122	547					T	24587623	C	T	24587623	4	4	79	1	0	0	0	0	0	1	0	0	4273	644	23	1	626	1	DCAF11	14	24587623	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19225	24587623	82761917	14482	24799											
PSME1	5720	broad.mit.edu	37	chr14	24607694	24607694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagggtgattatcgGcagctggtgcacgagctgga	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24607694G>A	ENST00000206451.6	+	10	699	c.594G>A	c.(592-594)cgG>cgA	p.R198R	RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000561435.1_Silent_p.R198R|PSME1_ENST00000382708.3_Silent_p.R198R|EMC9_ENST00000558200.1_5'Flank	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GTGATTATCGGCAGCTGGTGC	0.607																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(592-594)cgG>cgA		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							105	102	103					14																	24607694		2203	4300	6503	SO:0001819	synonymous_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24607694G>A		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.594G>A	14.37:g.24607694G>A						PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000206451.6_Silent_p.R198R|PSME1_ENST00000561435.1_Silent_p.R198R	p.R198R	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	10	657	+			198					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	c.594G>A	CCDS9612.1																																																																																				0.607	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		14	684	0	0	0	1	0	14	684					A	24607694	G	A	24607694	2	1	79	1	0	0	0	0	0	0	0	1	12753	1190	42	2		2	PSME1	14	24607694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20071	24607694	82741846	14483	24800											
FAM158A	51016	broad.mit.edu	37	chr14	24608299	24608299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttggtccagtcctgccGgatgtcatcaaggtggcagt	14	10	2	0	rs140552029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24608299G>A	ENST00000419198.2	-	5	827	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.R183W|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_Missense_Mutation_p.R109W			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	183						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											CAGTCCTGCCGGATGTCATCA	0.597													g|||	2	0.000399361	0.0015	0.0	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.0					ENST00000419198.2																			0											c.(547-549)Cgg>Tgg		ER membrane protein complex subunit 9		G	TRP/ARG	15,4391	22.3+/-47.3	0,15,2188	95	89	91		547	5.4	1	14	dbSNP_134	91	0,8600		0,0,4300	yes	missense	FAM158A	NM_016049.3	101	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging	183/209	24608299	15,12991	2203	4300	6503	SO:0001583	missense	51016							g.chr14:24608299G>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.547C>T	14.37:g.24608299G>A	ENSP00000403210:p.Arg183Trp					EMC9_ENST00000216799.4_Missense_Mutation_p.R183W|EMC9_ENST00000560403.1_Missense_Mutation_p.R109W	p.R183W							5	827	-								D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	c.547C>T	CCDS9613.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	19.36	3.813538	0.70912	0.003404	0.0	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.119595	0.53938	D	0.000060	T	0.63815	0.2543	L	0.61218	1.895	0.34161	D	0.668649	D	0.89917	1.0	D	0.76071	0.987	T	0.73639	-0.3919	10	0.72032	D	0.01	-19.4384	11.5736	0.50848	0.0:0.0:0.8222:0.1777	.	183	Q9Y3B6	F158A_HUMAN	W	183	ENSP00000403210:R183W;ENSP00000216799:R183W	ENSP00000216799:R183W	R	-	1	2	FAM158A	23678139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.687000	0.54692	2.797000	0.96272	0.655000	0.94253	CGG		0.597	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		70	369	0	0	0	1	0	70	369					A	24608299	G	A	24608299	3	1	79	1	0	0	0	0	1	0	0	0	5488	1115	39	1	83	1	FAM158A	14	24608299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	24608299	82741241	14484	24801											
RNF31	55072	broad.mit.edu	37	chr14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaccaggttgctacaGtcacactggaagtactgctg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	149	Polyubiquitin-binding.				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)			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)		GGTTGCTACAGTCACACTGGA	0.557																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(445-447)Gtc>Atc		ring finger protein 31							62	66	64					14																	24617572		2100	4215	6315	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.chr14:24617572G>A	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.445G>A	14.37:g.24617572G>A	ENSP00000315112:p.Val149Ile					RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	p.V149I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	765	+			149			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.445G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220579	0.79464	.	.	ENSG00000092098	ENST00000324103	T	0.55588	0.51	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	L	0.50333	1.59	0.80722	D	1	B	0.24186	0.099	B	0.31614	0.133	T	0.47812	-0.9088	10	0.49607	T	0.09	-20.5992	11.9072	0.52719	0.0827:0.0:0.9173:0.0	.	149	Q96EP0	RNF31_HUMAN	I	149	ENSP00000315112:V149I	ENSP00000315112:V149I	V	+	1	0	RNF31	23687412	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	6.548000	0.73896	2.779000	0.95612	0.655000	0.94253	GTC		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		32	130	0	0	0	1	0	32	130					A	24617572	G	A	24617572	3	1	79	1	0	0	0	0	1	0	0	0	13537	1029	36	2	455	2	RNF31	14	24617572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	24617572	82731968	14485	24802											
RNF31	55072	broad.mit.edu	37	chr14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactgtaccttctgcaactCgagccctggctgggtgtgtg	12	12	2	0	rs375081171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	423	Polyubiquitin-binding.				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)			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)		TTCTGCAACTCGAGCCCTGGC	0.557																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1267-1269)tCg>tTg		ring finger protein 31							131	145	140					14																	24619877		2009	4173	6182	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.chr14:24619877C>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.1268C>T	14.37:g.24619877C>T	ENSP00000315112:p.Ser423Leu					RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_Missense_Mutation_p.S272L	p.S423L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1588	+			423			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1268C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412775	0.62511	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.98	5.87	4.99	0.66335	Zinc finger, RanBP2-type (2);	0.331771	0.28414	N	0.015430	T	0.45458	0.1343	L	0.52364	1.645	0.33845	D	0.631964	D;D;D	0.67145	0.969;0.992;0.996	B;P;P	0.51945	0.296;0.487;0.685	T	0.62525	-0.6836	10	0.72032	D	0.01	-2.5388	7.735	0.28808	0.1614:0.7565:0.0:0.0821	.	238;423;272	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	423;272	ENSP00000315112:S423L;ENSP00000372134:S272L	ENSP00000315112:S423L	S	+	2	0	RNF31	23689717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	1.489000	0.48450	0.655000	0.94253	TCG		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		88	825	0	0	0	1	0	88	825					T	24619877	C	T	24619877	3	4	79	1	0	0	0	0	1	0	0	0	13537	893	31	1	1298	1	RNF31	14	24619877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2305	24619877	82729663	14486	24803											
RNF31	55072	broad.mit.edu	37	chr14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccggccctatgccaGctctttggaaaagggacccc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	450	Polyubiquitin-binding.				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)			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)		CCCTATGCCAGCTCTTTGGAA	0.612																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1348-1350)aGc>aTc		ring finger protein 31							71	77	75					14																	24619958		1882	4102	5984	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.chr14:24619958G>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.1349G>T	14.37:g.24619958G>T	ENSP00000315112:p.Ser450Ile					RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_Missense_Mutation_p.S299I	p.S450I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1669	+			450			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1349G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102621	0.37145	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.48836	0.8;0.8	5.87	3.0	0.34707	.	0.740640	0.13790	N	0.362573	T	0.41650	0.1168	L	0.56769	1.78	0.32017	N	0.601277	B;P;P	0.38078	0.346;0.483;0.617	B;B;B	0.37144	0.039;0.086;0.242	T	0.50800	-0.8785	10	0.45353	T	0.12	-1.4673	7.1867	0.25803	0.1577:0.1516:0.6907:0.0	.	265;450;299	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	450;299	ENSP00000315112:S450I;ENSP00000372134:S299I	ENSP00000315112:S450I	S	+	2	0	RNF31	23689798	0.817000	0.29147	0.997000	0.53966	0.916000	0.54674	0.234000	0.17930	0.792000	0.33850	0.655000	0.94253	AGC		0.612	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		57	608	1	0	6.60958e-23	1	7.49606e-23	57	608					T	24619958	G	T	24619958	3	4	79	1	0	0	0	0	1	0	0	0	13537	971	34	3	1379	3	RNF31	14	24619958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	24619958	82729582	14487	24804											
RNF31	55072	broad.mit.edu	37	chr14	24624403	24624403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagtgcaccatctgtcCtgactgcttccgccagcact	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24624403C>A	ENST00000324103.6	+	12	2488	c.2168C>A	c.(2167-2169)cCt>cAt	p.P723H	RNF31_ENST00000382687.3_Missense_Mutation_p.P572H|RNF31_ENST00000559275.1_Missense_Mutation_p.P572H|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.P198H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	723					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)			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)		ACCATCTGTCCTGACTGCTTC	0.617																																						ENST00000558468.1																			0											c.(592-594)cCt>cAt									85	87	86					14																	24624403		2164	4263	6427	SO:0001583	missense	0							g.chr14:24624403C>A	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.2168C>A	14.37:g.24624403C>A	ENSP00000315112:p.Pro723His					RNF31_ENST00000382687.3_Missense_Mutation_p.P572H|RNF31_ENST00000324103.6_Missense_Mutation_p.P723H|RNF31_ENST00000559275.1_Missense_Mutation_p.P572H	p.P198H							4	593	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.593C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534320	0.45073	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.42131	0.99;0.98	6.07	6.07	0.98685	Zinc finger, RING-type (1);	0.210165	0.41396	D	0.000894	T	0.31979	0.0814	N	0.08118	0	0.50039	D	0.999842	B;P;P	0.44380	0.091;0.745;0.834	B;B;P	0.46320	0.022;0.314;0.512	T	0.07158	-1.0787	10	0.14656	T	0.56	-14.0637	19.4154	0.94694	0.0:1.0:0.0:0.0	.	482;723;572	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	H	165;723;572	ENSP00000315112:P723H;ENSP00000372134:P572H	ENSP00000315112:P723H	P	+	2	0	RNF31	23694243	0.971000	0.33674	0.989000	0.46669	0.995000	0.86356	2.884000	0.48562	2.884000	0.98904	0.655000	0.94253	CCT		0.617	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		6	290	1	0	0.0293803	1	0.0294705	6	290					A	24624403	C	A	24624403	3	1	79	1	0	0	0	0	1	0	0	0	13537	681	24	3	2214	3	RNF31	14	24624403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4445	24624403	82725137	14488	24805											
IRF9	10379	broad.mit.edu	37	chr14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactccagagcagcaggcaGccattctgtccctggtgtag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	388					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527																																						ENST00000396864.3																			1	Substitution - Missense(1)	p.A388T(1)	large_intestine(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(1162-1164)Gcc>Acc		interferon regulatory factor 9							64	64	64					14																	24635385		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635385G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1162G>A	14.37:g.24635385G>A	ENSP00000380073:p.Ala388Thr					IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	p.A388T	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	9	1449	+			388					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.1162G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	IRF9	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC		0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			30	110	0	0	0	1	0	30	110					A	24635385	G	A	24635385	3	1	79	1	0	0	0	0	1	0	0	0	7867	971	34	2	1192	2	IRF9	14	24635385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10982	24635385	82714155	14489	24806											
REC8	9985	broad.mit.edu	37	chr14	24642111	24642111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcattgttccccagcgaGgaaatcctcaattacgtgct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	43					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(127-129)gaG>gaA		REC8 meiotic recombination protein							54	62	59					14																	24642111		2043	4178	6221	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642111G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.129G>A	14.37:g.24642111G>A						REC8_ENST00000559919.1_Silent_p.E43E	p.E43E			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	728	+			43					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.129G>A	CCDS41932.1																																																																																				0.647	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		79	337	0	0	0	1	0	79	337					A	24642111	G	A	24642111	2	1	79	1	0	0	0	0	0	0	0	1	13249	991	35	2		2	REC8	14	24642111	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	24642111	82707429	14490	24807											
REC8	9985	broad.mit.edu	37	chr14	24646361	24646361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggacagggtgaacgggaGctcccagaggtcagccgccg	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	212	Glu-rich.				double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(634-636)gaG>gaA		REC8 meiotic recombination protein							50	55	53					14																	24646361		1884	4109	5993	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24646361G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.636G>A	14.37:g.24646361G>A						REC8_ENST00000559919.1_Silent_p.E212E	p.E212E			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	9	1235	+			212			Glu-rich.		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.636G>A	CCDS41932.1																																																																																				0.557	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		59	315	0	0	0	1	0	59	315					A	24646361	G	A	24646361	2	1	79	1	0	0	0	0	0	0	0	1	13249	962	34	2		2	REC8	14	24646361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	24646361	82703179	14491	24808											
REC8	79711	broad.mit.edu	37	chr14	24646947	24646947	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggagctgcgtctgccaGccccacccagcccagaggtg	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646947G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.A282T|REC8_ENST00000559919.1_Missense_Mutation_p.A282T	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCGTCTGCCAGCCCCACCCAG	0.637																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(844-846)Gcc>Acc		REC8 meiotic recombination protein							31	39	36					14																	24646947		2010	4178	6188	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24646947G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24646947G>A						REC8_ENST00000559919.1_Missense_Mutation_p.A282T	p.A282T			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	12	1443	+			283			Glu-rich.|Pro-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.844G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208192	0.22205	.	.	ENSG00000100918	ENST00000311457	T	0.24151	1.87	5.21	-1.75	0.08031	.	1.027860	0.07705	N	0.941037	T	0.17959	0.0431	L	0.33485	1.01	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.35649	-0.9780	10	0.11794	T	0.64	-0.8279	12.2069	0.54356	0.0772:0.625:0.2978:0.0	.	283	O95072	REC8_HUMAN	T	282	ENSP00000308699:A282T	ENSP00000308699:A282T	A	+	1	0	REC8	23716787	0.000000	0.05858	0.019000	0.16419	0.953000	0.61014	-0.938000	0.03938	-0.160000	0.11002	0.561000	0.74099	GCC		0.637	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		9	204	0	0	0	1	0	9	204					A	24646947	G	A	24646947	1	1	79	0	1	0	0	0	0	0	0	0	13249	971	34	2		2	REC8	14	24646947	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	24646947	82702593	14492	24809											
IPO4	79711	broad.mit.edu	37	chr14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacggacacgatcatgtcGctcccgcgccaggaggggaa	14	13	2	0	rs535037141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	953					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2857-2859)Cga>Tga		importin 4							70	78	75					14																	24651000		2043	4196	6239	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651000G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2857C>T	14.37:g.24651000G>A	ENSP00000346453:p.Arg953*					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R953*	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	27	3033	-			953					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.2857C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451090	0.84209	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.97	5.08	0.68730	.	0.224065	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.6638	15.4355	0.75143	0.0:0.0:0.8595:0.1405	.	.	.	.	X	953;629	.	ENSP00000346453:R953X	R	-	1	2	IPO4	23720840	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	1.486000	0.35530	0.873000	0.35799	-0.808000	0.03180	CGA		0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		60	242	0	0	0	1	0	60	242					A	24651000	G	A	24651000	4	1	79	1	0	0	0	0	0	1	0	0	7825	1095	38	1	404	1	IPO4	14	24651000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4053	24651000	82698540	14493	24810											
IPO4	79711	broad.mit.edu	37	chr14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgcatgtaggatggcaCgactcgggccagggcagcct	15	12	0	0	rs372694223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	752					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2254-2256)Gtg>Atg		importin 4		C	MET/VAL	0,4208		0,0,2104	43	50	47		2254	-1.4	0.9	14		47	2,8470		0,2,4234	no	missense	IPO4	NM_024658.3	21	0,2,6338	TT,TC,CC		0.0236,0.0,0.0158	benign	752/1082	24652349	2,12678	2104	4236	6340	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652349C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2254G>A	14.37:g.24652349C>T	ENSP00000346453:p.Val752Met					RP11-468E2.2_ENST00000561419.1_3'UTR	p.V752M	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	23	2430	-			752					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2254G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260088	0.23051	0.0	2.36E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.67171	-0.25	5.89	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (2);	0.788870	0.11743	N	0.533853	T	0.37598	0.1009	N	0.08118	0	0.30553	N	0.765211	B;B	0.19445	0.011;0.036	B;B	0.15870	0.006;0.014	T	0.25676	-1.0125	10	0.23891	T	0.37	-2.0618	4.6873	0.12764	0.0:0.2166:0.314:0.4694	.	752;752	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	752;428	ENSP00000346453:V752M	ENSP00000346453:V752M	V	-	1	0	IPO4	23722189	0.007000	0.16637	0.862000	0.33874	0.765000	0.43378	-1.611000	0.02062	-0.090000	0.12462	0.655000	0.94253	GTG		0.662	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		70	366	0	0	0	1	0	70	366					T	24652349	C	T	24652349	3	4	79	1	0	0	0	0	1	0	0	0	7825	536	19	1	1023	1	IPO4	14	24652349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1349	24652349	82697191	14494	24811											
TM9SF1	10548	broad.mit.edu	37	chr14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacactcagcaggatggCgaagacaaagaagaggatgc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000261789.4	-	6	1874	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	506					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(2143-2145)Gcc>Acc		transmembrane 9 superfamily member 1							117	108	111					14																	24658926		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24658926C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1516G>A	14.37:g.24658926C>T	ENSP00000261789:p.Ala506Thr					TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A506T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T	p.A715T			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	10	2176	-			506					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.2143G>A	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.189563|4.189563	0.78789|0.78789	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.43294|0.54866	0.95;0.95;0.95;0.95;0.95|0.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	B|.	0.32203|.	0.36|.	B|.	0.26416|.	0.069|.	T|T	0.54282|0.54282	-0.8317|-0.8317	10|7	0.59425|0.87932	D|D	0.04|0	-13.9922|-13.9922	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	506|.	O15321|.	TM9S1_HUMAN|.	T|H	506;489;715;419;715|73	ENSP00000261789:A506T;ENSP00000432997:A489T;ENSP00000451949:A715T;ENSP00000434387:A419T;ENSP00000433967:A715T|ENSP00000436486:R73H	ENSP00000433967:A715T|ENSP00000436486:R73H	A|R	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728766|23728766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		71	371	0	0	0	1	0	71	371					T	24658926	C	T	24658926	3	4	79	1	0	0	0	0	1	0	0	0	16029	768	27	1	308	1	TM9SF1	14	24658926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6577	24658926	82690614	14495	24812											
CHMP4A	29082	broad.mit.edu	37	chr14	24679567	24679567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatacctggccctgccggCagatgagtagaaggtacact	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000609024.1	-	5	645	c.597G>A	c.(595-597)ctG>ctA	p.L199L	TM9SF1_ENST00000556387.1_Silent_p.L199L|CHMP4A_ENST00000347519.6_Silent_p.L242L|CHMP4A_ENST00000530996.1_Silent_p.L94L|TM9SF1_ENST00000530611.1_Silent_p.L199L|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	199	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGCCGGCAGATGAGTAG	0.502																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(595-597)ctG>ctA		transmembrane 9 superfamily member 1							142	145	144					14																	24679567		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679567C>T	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.597G>A	14.37:g.24679567C>T						CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Silent_p.L242L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L199L	p.L199L			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	630	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	C	6.553	0.470224	0.12461	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.46	-0.181	0.13291	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-7.8791	3.446	0.07481	0.4183:0.3136:0.0:0.2681	.	.	.	.	T	182	.	.	A	-	1	0	AL096870.1	23749407	0.975000	0.34042	0.463000	0.27130	0.239000	0.25481	0.120000	0.15647	0.271000	0.22005	0.561000	0.74099	GCC		0.502	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		12	735	0	0	0	1	0	12	735					T	24679567	C	T	24679567	2	4	79	1	0	0	0	0	0	0	0	1	3365	697	25	2		2	CHMP4A	14	24679567	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20641	24679567	82669973	14496	24813											
CHMP4A	29082	broad.mit.edu	37	chr14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttgactgagggttcttcttCcttgtcgcccacatttaaca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000609024.1	-	5	598	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	184	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GGTTCTTCTTCCTTGTCGCCC	0.517																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(550-552)Gaa>Taa		transmembrane 9 superfamily member 1							199	208	205					14																	24679614		2203	4300	6503	SO:0001587	stop_gained	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679614C>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.550G>T	14.37:g.24679614C>A	ENSP00000476412:p.Glu184*					CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*	p.E184*			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	583	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Nonsense_Mutation	SNP	ENST00000609024.1	37	c.550G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245092|3.245092	0.59103|0.59103	.|.	.|.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505|ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011|ENST00000548308	.|.	.|.	.|.	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	0.313069|.	0.22848|.	N|.	0.054881|.	.|T	.|0.50360	.|0.1611	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59658	.|-0.7413	.|3	0.09590|.	T|.	0.72|.	-7.7942|-7.7942	8.6606|8.6606	0.34091|0.34091	0.0:0.8202:0.0:0.1798|0.0:0.8202:0.0:0.1798	.|.	.|.	.|.	.|.	X|V	184;184;227;194|166	.|.	ENSP00000324205:E227X|.	E|G	-|-	1|2	0|0	TM9SF1;AL096870.1;RP11-468E2.1|AL096870.1	23749454|23749454	0.017000|0.017000	0.18338|0.18338	0.983000|0.983000	0.44433|0.44433	0.596000|0.596000	0.36781|0.36781	1.319000|1.319000	0.33655|0.33655	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.517	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		30	932	1	0	1.17739e-12	1	1.26592e-12	30	932					A	24679614	C	A	24679614	4	1	79	1	0	0	0	0	0	1	0	0	3365	864	30	3	126	3	CHMP4A	14	24679614	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	24679614	82669926	14497	24814											
MDP1	145553	broad.mit.edu	37	chr14	24683242	24683242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtttaggcctcaaaTgggctctcctcaaggctgga	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_3'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	173						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						AGGCCTCAAATGGGCTCTCCT	0.423																																						ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(517-519)ccA>ccG		magnesium-dependent phosphatase 1							63	64	64					14																	24683242		2203	4300	6503	SO:0001819	synonymous_variant	145553							g.chr14:24683242T>C	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.519A>G	14.37:g.24683242T>C						MDP1_ENST00000396833.2_3'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR	p.P173P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					6	630	-								Q86Y84|Q8NAD9	Silent	SNP	ENST00000288087.7	37	c.519A>G	CCDS9620.1																																																																																				0.423	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		13	332	0	0	0	1	0	13	332					C	24683242	T	C	24683242	2	2	79	1	0	0	0	0	0	0	0	1	9457	1451	51	4		4	MDP1	14	24683242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3628	24683242	82666298	14498	24815											
MDP1	145553	broad.mit.edu	37	chr14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacgtctacaatattccGcctctcatcatcaaagaaga	6	12	4	3	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	126						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACAATATTCCGCCTCTCATCA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.001					ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(376-378)Cgg>Tgg		magnesium-dependent phosphatase 1		G	,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	144	137	139		,376,427,376	4.1	1	14	dbSNP_100	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	MDP1,NEDD8-MDP1	NM_001199821.1,NM_001199822.1,NM_001199823.1,NM_138476.3	,101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,probably-damaging	,126/138,143/194,126/177	24683543	2,13004	2203	4300	6503	SO:0001583	missense	145553							g.chr14:24683543G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.376C>T	14.37:g.24683543G>A	ENSP00000288087:p.Arg126Trp					NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W|MDP1_ENST00000396833.2_Intron|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_Intron	p.R126W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					5	487	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.376C>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149115	0.78001	2.27E-4	1.16E-4	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.0	4.1	0.47936	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.27991	U	0.017029	D	0.97914	0.9314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.41790	T	0.15	-13.1301	10.6353	0.45560	0.0:0.0:0.8088:0.1912	.	126	Q86V88	MGDP1_HUMAN	W	126;143	ENSP00000288087:R126W;ENSP00000431482:R143W	ENSP00000288087:R126W	R	-	1	2	MDP1;NEDD8-MDP1	23753383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.475000	0.45162	1.323000	0.45263	0.655000	0.94253	CGG		0.458	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		117	545	0	0	0	1	0	117	545					A	24683543	G	A	24683543	3	1	79	1	0	0	0	0	1	0	0	0	9457	1086	38	1	162	1	MDP1	14	24683543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	24683543	82665997	14499	24816											
MDP1	145553	broad.mit.edu	37	chr14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtccctacctcacctgCtcttatggaacggagggtct	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'UTR|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|NEDD8-MDP1_ENST00000534348.1_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	32						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACCTCACCTGCTCTTATGGAA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(94-96)aGc>aAc		magnesium-dependent phosphatase 1							172	166	168					14																	24684946		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24684946C>T	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.95G>A	14.37:g.24684946C>T	ENSP00000288087:p.Ser32Asn		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR	p.S32N	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					2	206	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.95G>A	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364688	0.61513	.	.	ENSG00000213920	ENST00000288087;ENST00000396833	D;D	0.97303	-4.33;-4.33	4.92	4.03	0.46877	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92021	0.7472	N	0.17872	0.535	0.22601	N	0.998946	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.82544	-0.0404	9	0.17832	T	0.49	.	9.3942	0.38392	0.0:0.9028:0.0:0.0972	.	32;32;32	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	32	ENSP00000288087:S32N;ENSP00000380045:S32N	ENSP00000288087:S32N	S	-	2	0	MDP1	23754786	0.577000	0.26708	0.994000	0.49952	0.992000	0.81027	0.390000	0.20768	1.432000	0.47375	0.655000	0.94253	AGC		0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		152	841	0	0	0	1	0	152	841					T	24684946	C	T	24684946	3	4	79	1	0	0	0	0	1	0	0	0	9457	797	28	2	455	2	MDP1	14	24684946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1403	24684946	82664594	14500	24817											
TINF2	26277	broad.mit.edu	37	chr14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcctgtgcctccaaaatCttcctcagatcctgctttgt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000267415.7	-	3	659	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.K106N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	106					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(316-318)aaG>aaT		TERF1 (TRF1)-interacting nuclear factor 2							69	65	66					14																	24710962		1904	4128	6032	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24710962C>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.318G>T	14.37:g.24710962C>A	ENSP00000267415:p.Lys106Asn					TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000267415.7_Missense_Mutation_p.K106N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N	p.K106N	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	3	648	-			106					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.318G>T	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406045	0.62288	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.45276	0.9;0.9;0.9	5.13	3.31	0.37934	.	0.255699	0.39544	N	0.001336	T	0.54334	0.1852	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;P;P	0.63877	0.919;0.801;0.801	T	0.50988	-0.8762	10	0.41790	T	0.15	-9.6111	7.729	0.28775	0.0:0.8111:0.0:0.1889	.	71;106;106	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	N	106;71;106	ENSP00000267415:K106N;ENSP00000442154:K71N;ENSP00000382350:K106N	ENSP00000267415:K106N	K	-	3	2	TINF2	23780802	0.980000	0.34600	0.997000	0.53966	0.767000	0.43475	0.129000	0.15830	0.743000	0.32719	0.491000	0.48974	AAG		0.493	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			23	96	1	0	1.28384e-07	1	1.33406e-07	23	96					A	24710962	C	A	24710962	3	1	79	1	0	0	0	0	1	0	0	0	15975	912	32	3	1069	3	TINF2	14	24710962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26016	24710962	82638578	14501	24818											
TGM1	7051	broad.mit.edu	37	chr14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaacaatcttgaagctgCcatcatcctgccgctgccag	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	511					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(1531-1533)gGc>gAc		transglutaminase 1	L-Glutamine(DB00130)						100	82	88					14																	24724683		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724683C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1532G>A	14.37:g.24724683C>T	ENSP00000206765:p.Gly511Asp					TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	p.G511D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	11	1655	-			511					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1532G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870567	0.91587	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.81996	-1.56;-1.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90846	0.4727	10	0.72032	D	0.01	-31.6259	16.9613	0.86273	0.0:1.0:0.0:0.0	.	511	P22735	TGM1_HUMAN	D	511;69	ENSP00000206765:G511D;ENSP00000439446:G69D	ENSP00000206765:G511D	G	-	2	0	TGM1	23794523	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.602000	0.87976	0.655000	0.94253	GGC		0.552	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		24	279	0	0	0	1	0	24	279					T	24724683	C	T	24724683	3	4	79	1	0	0	0	0	1	0	0	0	15881	739	26	2	941	2	TGM1	14	24724683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13721	24724683	82624857	14502	24819											
TGM1	7051	broad.mit.edu	37	chr14	24729006	24729006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataagcaggcatccagcacCccgtggtcaaactggaagga	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	296					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(886-888)ggG>ggA		transglutaminase 1	L-Glutamine(DB00130)						47	38	41					14																	24729006		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729006C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.888G>A	14.37:g.24729006C>T						TGM1_ENST00000544573.1_Intron	p.G296G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	6	1011	-			296					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.888G>A	CCDS9622.1																																																																																				0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		6	153	0	0	0	1	0	6	153					T	24729006	C	T	24729006	2	4	79	1	0	0	0	0	0	0	0	1	15881	610	22	2		2	TGM1	14	24729006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4323	24729006	82620534	14503	24820											
TGM1	7051	broad.mit.edu	37	chr14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctcaccaatctgtgcttCggtcccgtagtaaattctcc	7	15	3	0	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	280					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(838-840)Gaa>Aaa		transglutaminase 1	L-Glutamine(DB00130)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	96	86	89		838	5.4	1	14	dbSNP_134	89	0,8600		0,0,4300	no	missense	TGM1	NM_000359.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	280/818	24729184	1,13005	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729184C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.838G>A	14.37:g.24729184C>T	ENSP00000206765:p.Glu280Lys					TGM1_ENST00000544573.1_Intron	p.E280K	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	5	961	-			280					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.838G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170292	0.38315	2.27E-4	0.0	ENSG00000092295	ENST00000206765	D	0.88664	-2.41	5.39	5.39	0.77823	.	0.048812	0.85682	D	0.000000	T	0.76176	0.3951	N	0.11870	0.19	0.80722	D	1	D	0.59357	0.985	B	0.39660	0.306	T	0.76041	-0.3104	10	0.10111	T	0.7	-19.3187	13.7621	0.62973	0.0:0.8458:0.1542:0.0	.	280	P22735	TGM1_HUMAN	K	280	ENSP00000206765:E280K	ENSP00000206765:E280K	E	-	1	0	TGM1	23799024	0.001000	0.12720	0.967000	0.41034	0.969000	0.65631	0.709000	0.25734	2.800000	0.96347	0.650000	0.86243	GAA		0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		15	347	0	0	0	1	0	15	347					T	24729184	C	T	24729184	3	4	79	1	0	0	0	0	1	0	0	0	15881	893	31	1	1659	1	TGM1	14	24729184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	24729184	82620356	14504	24821											
TGM1	7051	broad.mit.edu	37	chr14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctcagcaagtccacaccGttcactactagcatgccctc	7	16	2	0	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	113					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(337-339)aaC>aaG		transglutaminase 1	L-Glutamine(DB00130)						100	92	95					14																	24731070		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731070G>C	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.339C>G	14.37:g.24731070G>C	ENSP00000206765:p.Asn113Lys					TGM1_ENST00000544573.1_Intron	p.N113K	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	462	-			113					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.339C>G	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474567	0.12521	.	.	ENSG00000092295	ENST00000206765	D	0.83673	-1.75	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.720818	0.13927	N	0.353165	T	0.51126	0.1656	N	0.04880	-0.145	0.26576	N	0.973466	B	0.02656	0.0	B	0.08055	0.003	T	0.49698	-0.8912	10	0.06891	T	0.86	-1.3594	7.4068	0.26995	0.6273:0.1535:0.1418:0.0774	.	113	P22735	TGM1_HUMAN	K	113	ENSP00000206765:N113K	ENSP00000206765:N113K	N	-	3	2	TGM1	23800910	0.000000	0.05858	0.023000	0.16930	0.131000	0.20780	-3.860000	0.00348	-3.021000	0.00269	-1.036000	0.02392	AAC		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		36	421	0	0	0	1	0	36	421					C	24731070	G	C	24731070	3	2	79	1	0	0	0	0	1	0	0	0	15881	1136	40	5	2166	5	TGM1	14	24731070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	24731070	82618470	14505	24822											
DHRS1	115817	broad.mit.edu	37	chr14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcactcacctcctgaGcaacaacgcgaagggtgtcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	NOP9_ENST00000267425.3_5'Flank|DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V|NOP9_ENST00000396802.3_5'Flank	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	48						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557																																						ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(142-144)gCt>gTt		dehydrogenase/reductase (SDR family) member 1							59	57	58					14																	24768170		2203	4300	6503	SO:0001583	missense	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24768170G>A	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16445	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 19C, member 1"	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.143C>T	14.37:g.24768170G>A	ENSP00000288111:p.Ala48Val					DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V	p.A48V	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	2	419	-			48					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	37	c.143C>T	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781515	0.90282	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87179	-2.22;-2.22	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	N	0.21194	0.64	0.80722	D	1	P	0.39717	0.684	P	0.45712	0.491	D	0.84989	0.0893	10	0.62326	D	0.03	-11.7277	13.9863	0.64337	0.0:0.0:1.0:0.0	.	48	Q96LJ7	DHRS1_HUMAN	V	48	ENSP00000288111:A48V;ENSP00000380027:A48V	ENSP00000288111:A48V	A	-	2	0	DHRS1	23838010	1.000000	0.71417	0.934000	0.37439	0.792000	0.44763	6.199000	0.72112	2.675000	0.91044	0.655000	0.94253	GCT		0.557	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		40	262	0	0	0	1	0	40	262					A	24768170	G	A	24768170	3	1	79	1	0	0	0	0	1	0	0	0	4502	971	34	2	830	2	DHRS1	14	24768170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37100	24768170	82581370	14506	24823											
C14orf21	161424	broad.mit.edu	37	chr14	24771544	24771544	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctttgaggagcacttgCaggggcagctgcagaccctg	14	12	1	2	rs573854331	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24771544C>T	ENST00000267425.3	+	5	1150	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Nonsense_Mutation_p.Q353*|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	353							poly(A) RNA binding (GO:0044822)										GGAGCACTTGCAGGGGCAGCT	0.572																																						ENST00000267425.3																			0											c.(1057-1059)Cag>Tag		NOP9 nucleolar protein							103	104	103					14																	24771544		2203	4300	6503	SO:0001587	stop_gained	161424							g.chr14:24771544C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1057C>T	14.37:g.24771544C>T	ENSP00000267425:p.Gln353*					NOP9_ENST00000396802.3_Nonsense_Mutation_p.Q353*	p.Q353*	NM_174913.1	NP_777573.1					5	1150	+								A8MY76|Q8IVF0|Q8TBS6	Nonsense_Mutation	SNP	ENST00000267425.3	37	c.1057C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	37	6.337055	0.97485	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	.	.	.	5.06	5.06	0.68205	.	0.119196	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7914	12.9542	0.58416	0.1627:0.8373:0.0:0.0	.	.	.	.	X	353	.	ENSP00000267425:Q353X	Q	+	1	0	C14orf21	23841384	0.951000	0.32395	1.000000	0.80357	0.980000	0.70556	1.283000	0.33237	2.626000	0.88956	0.557000	0.71058	CAG		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			127	589	0	0	0	1	0	127	589					T	24771544	C	T	24771544	4	4	79	1	0	0	0	0	0	1	0	0	1774	711	25	2	1075	2	C14orf21	14	24771544	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3374	24771544	82577996	14507	24824											
C14orf21	161424	broad.mit.edu	37	chr14	24772330	24772330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggaagctgtattggcCcagggccacccaggggtagt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24772330C>T	ENST00000267425.3	+	6	1287	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	NOP9_ENST00000396802.3_Silent_p.A398A	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	398							poly(A) RNA binding (GO:0044822)										CTGTATTGGCCCAGGGCCACC	0.572																																						ENST00000267425.3																			0											c.(1192-1194)gcC>gcT		NOP9 nucleolar protein							83	78	79					14																	24772330		2203	4300	6503	SO:0001819	synonymous_variant	161424							g.chr14:24772330C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1194C>T	14.37:g.24772330C>T						NOP9_ENST00000396802.3_Silent_p.A398A	p.A398A	NM_174913.1	NP_777573.1					6	1287	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1194C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138542	0.21123	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.16	-5.85	0.02311	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-10.4345	1.1116	0.01705	0.2178:0.2927:0.107:0.3825	.	.	.	.	L	24	.	.	P	+	2	0	C14orf21	23842170	0.016000	0.18221	0.909000	0.35828	0.779000	0.44077	-2.151000	0.01289	-0.965000	0.03591	-0.244000	0.11960	CCC		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			58	337	0	0	0	1	0	58	337					T	24772330	C	T	24772330	2	4	79	1	0	0	0	0	0	0	0	1	1774	610	22	2		2	C14orf21	14	24772330	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	786	24772330	82577210	14508	24825											
LTB4R2	56413	broad.mit.edu	37	chr14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcccgagggggcggccGctctagggaagggaccatgg	21	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|CIDEB_ENST00000336557.5_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	350					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(1048-1050)cGc>cAc		leukotriene B4 receptor 2							33	43	40					14																	24780826		2194	4289	6483	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780826G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1049G>A	14.37:g.24780826G>A	ENSP00000432146:p.Arg350His					LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H	p.R350H			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2666	+			350					Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.1049G>A		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738029	0.69304	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.36	4.81	3.91	0.45181	.	0.431407	0.21050	U	0.081007	T	0.48554	0.1506	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.14023	0.01	T	0.43130	-0.9410	10	0.48119	T	0.1	.	7.7868	0.29097	0.1924:0.0:0.8076:0.0	.	350	Q9NPC1	LT4R2_HUMAN	H	350;319;319;319	ENSP00000432146:R350H;ENSP00000433290:R319H;ENSP00000445772:R319H;ENSP00000434760:R319H	ENSP00000337731:R350H	R	+	2	0	LTB4R2	23850666	0.074000	0.21230	0.995000	0.50966	0.972000	0.66771	0.866000	0.27954	1.015000	0.39444	0.591000	0.81541	CGC		0.677	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			129	390	0	0	0	1	0	129	390					A	24780826	G	A	24780826	3	1	79	1	0	0	0	0	1	0	0	0	9110	1087	38	1	958	1	LTB4R2	14	24780826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8496	24780826	82568714	14509	24826											
RIPK3	11035	broad.mit.edu	37	chr14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagttcatgccttgtctCtcagccccctgcaaacagca	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000396747.3_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	428	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCCTTGTCTCTCAGCCCCCT	0.557																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1282-1284)gaG>gaT		receptor-interacting serine-threonine kinase 3							114	107	109					14																	24806143		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806143C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1284G>T	14.37:g.24806143C>A	ENSP00000216274:p.Glu428Asp					RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D	p.E428D	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	9	1502	-			428					B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.1284G>T	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007385|2.007385	0.35415|0.35415	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.44482|.	0.92|.	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	1.079420|.	0.07158|.	N|.	0.850264|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.037;0.046|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.02654|.	T|.	1|.	-1.3913|-1.3913	5.6008|5.6008	0.17353|0.17353	0.0:0.6885:0.2021:0.1094|0.0:0.6885:0.2021:0.1094	.|.	102;428|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	D|I	102;428|109	ENSP00000216274:E428D|.	ENSP00000216274:E428D|.	E|R	-|-	3|2	2|0	RIPK3;RP11-934B9.3|RIPK3	23875983|23875983	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.113000|0.113000	0.19764|0.19764	-0.998000|-0.998000	0.03701|0.03701	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.557	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		91	392	1	0	3.39216e-54	1	4.23318e-54	91	392					A	24806143	C	A	24806143	3	1	79	1	0	0	0	0	1	0	0	0	13432	912	32	3	280	3	RIPK3	14	24806143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	24806143	82543397	14510	24827											
RIPK3	11035	broad.mit.edu	37	chr14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatggccttgacctccctgGatatcgccttcctacactcc	6	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GACCTCCCTGGATATCGCCTT	0.587																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(172-174)tCc>tAc		receptor-interacting serine-threonine kinase 3							88	77	80					14																	24808519		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808519G>T	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.173C>A	14.37:g.24808519G>T	ENSP00000216274:p.Ser58Tyr					RIPK3_ENST00000554338.1_5'UTR	p.S58Y	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	391	-			58			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.173C>A	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728327	0.48833	.	.	ENSG00000129465	ENST00000216274	T	0.66815	-0.23	4.69	2.85	0.33270	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592034	0.15399	N	0.264383	T	0.67924	0.2945	L	0.48260	1.515	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.879;0.996	T	0.57573	-0.7788	10	0.02654	T	1	-5.91	6.448	0.21887	0.099:0.1844:0.7166:0.0	.	58;58	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Y	58	ENSP00000216274:S58Y	ENSP00000216274:S58Y	S	-	2	0	RIPK3	23878359	0.016000	0.18221	0.040000	0.18447	0.098000	0.18820	0.190000	0.17057	0.701000	0.31803	-0.304000	0.09214	TCC		0.587	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		106	439	1	0	5.50663e-37	1	6.60513e-37	106	439					T	24808519	G	T	24808519	3	4	79	1	0	0	0	0	1	0	0	0	13432	1174	41	3	1415	3	RIPK3	14	24808519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2376	24808519	82541021	14511	24828											
NFATC4	4776	broad.mit.edu	37	chr14	24838944	24838944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggccgtgttctcgagtgtCccagcatccgcatcacctcc	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	ENST00000250373.4	+	2	481	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P177S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	114	Calcineurin-binding.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCGAGTGTCCCAGCATCCG	0.687																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(529-531)Ccc>Tcc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							13	15	14					14																	24838944		2192	4262	6454	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838944C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.340C>T	14.37:g.24838944C>T	ENSP00000250373:p.Pro114Ser					NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P114S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S	p.P177S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	673	+			114			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.529C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028917	0.75504	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	3.48	3.48	0.39840	.	0.000000	0.53938	D	0.000055	T	0.32585	0.0834	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.994;0.996;0.992	T	0.09314	-1.0680	10	0.87932	D	0	-4.9353	12.5733	0.56349	0.0:1.0:0.0:0.0	.	102;102;146;146;127;127;127;177;177;102;146;91;177;114	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	177;177;127;127;127;146;146;146;114;114;114;114;91;44;44;44;102;44;102;102	ENSP00000388910:P177S;ENSP00000452039:P177S;ENSP00000451224:P127S;ENSP00000450644:P127S;ENSP00000388668:P127S;ENSP00000439350:P146S;ENSP00000452270:P146S;ENSP00000451502:P146S;ENSP00000451151:P114S;ENSP00000451853:P114S;ENSP00000250373:P114S;ENSP00000450590:P114S;ENSP00000452352:P91S;ENSP00000452349:P44S;ENSP00000450469:P44S;ENSP00000450733:P44S;ENSP00000451454:P102S;ENSP00000451284:P44S;ENSP00000396788:P102S;ENSP00000450686:P102S	ENSP00000250373:P114S	P	+	1	0	NFATC4	23908784	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.886000	0.75611	1.797000	0.52628	0.558000	0.71614	CCC		0.687	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		28	121	0	0	0	1	0	28	121					T	24838944	C	T	24838944	3	4	79	1	0	0	0	0	1	0	0	0	10407	855	30	2	539	2	NFATC4	14	24838944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30425	24838944	82510596	14512	24829											
NFATC4	4776	broad.mit.edu	37	chr14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgggggctacagagaaGcagggggccagggtgggggg	23	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000250373.4	+	2	613	c.472G>A	c.(472-474)Gca>Aca	p.A158T	NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.A221T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	158	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(661-663)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							8	10	9					14																	24839076		2120	4234	6354	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839076G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.472G>A	14.37:g.24839076G>A	ENSP00000250373:p.Ala158Thr					NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000250373.4_Missense_Mutation_p.A158T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T	p.A221T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	805	+			158			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.661G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171899	0.21704	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.8	2.91	0.33838	.	0.397445	0.18366	N	0.143422	T	0.09905	0.0243	N	0.14661	0.345	0.42755	D	0.993781	P;B;P;B;P;P;P;B;B;B;B;B;B;P	0.50528	0.936;0.0;0.936;0.0;0.936;0.936;0.936;0.0;0.0;0.0;0.0;0.0;0.0;0.895	P;B;P;B;P;P;P;B;B;B;B;B;B;B	0.44477	0.451;0.001;0.451;0.001;0.451;0.451;0.451;0.001;0.001;0.001;0.001;0.001;0.001;0.264	T	0.18178	-1.0345	10	0.38643	T	0.18	-3.8362	5.22	0.15364	0.1177:0.2108:0.6714:0.0	.	146;146;190;190;171;171;171;221;221;146;190;135;221;158	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	221;221;171;171;171;190;190;190;158;158;158;135;88;88;88;146;88;146;146	ENSP00000388910:A221T;ENSP00000452039:A221T;ENSP00000451224:A171T;ENSP00000450644:A171T;ENSP00000388668:A171T;ENSP00000439350:A190T;ENSP00000452270:A190T;ENSP00000451502:A190T;ENSP00000451151:A158T;ENSP00000250373:A158T;ENSP00000450590:A158T;ENSP00000452352:A135T;ENSP00000452349:A88T;ENSP00000450469:A88T;ENSP00000450733:A88T;ENSP00000451454:A146T;ENSP00000451284:A88T;ENSP00000396788:A146T;ENSP00000450686:A146T	ENSP00000250373:A158T	A	+	1	0	NFATC4	23908916	1.000000	0.71417	0.915000	0.36163	0.688000	0.40055	1.570000	0.36439	0.804000	0.34136	0.467000	0.42956	GCA		0.667	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		16	84	0	0	0	1	0	16	84					A	24839076	G	A	24839076	3	1	79	1	0	0	0	0	1	0	0	0	10407	971	34	2	671	2	NFATC4	14	24839076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	24839076	82510464	14513	24830											
NFATC4	4776	broad.mit.edu	37	chr14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtgttccgggtacacGtgccccagggcggcgggaag	19	11	0	0	rs374808156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000250373.4	+	5	1813	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000413692.2_Missense_Mutation_p.V621M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555802.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	558	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1861-1863)Gtg>Atg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							81	74	77					14																	24843013		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24843013G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1672G>A	14.37:g.24843013G>A	ENSP00000250373:p.Val558Met					NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000250373.4_Missense_Mutation_p.V558M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M	p.V621M	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	2005	+			558			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1861G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939180	0.73557	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.070256	0.56097	D	0.000027	T	0.59918	0.2229	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.70716	0.822;0.934;0.95;0.934;0.95;0.966;0.934;0.934;0.934;0.934;0.95;0.966;0.966;0.95;0.97	T	0.62685	-0.6802	10	0.87932	D	0	-5.9858	15.8129	0.78578	0.0:0.0:1.0:0.0	.	546;546;590;590;571;571;571;621;621;546;488;590;535;621;558	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	M	621;621;571;571;571;590;590;590;558;558;558;488;488;488;546;488;546;546;93;93;93	ENSP00000388910:V621M;ENSP00000452039:V621M;ENSP00000451224:V571M;ENSP00000450644:V571M;ENSP00000388668:V571M;ENSP00000439350:V590M;ENSP00000452270:V590M;ENSP00000451502:V590M;ENSP00000451151:V558M;ENSP00000250373:V558M;ENSP00000450590:V558M;ENSP00000452349:V488M;ENSP00000450469:V488M;ENSP00000450733:V488M;ENSP00000451454:V546M;ENSP00000451284:V488M;ENSP00000396788:V546M;ENSP00000450686:V546M;ENSP00000450810:V93M;ENSP00000451183:V93M;ENSP00000451395:V93M	ENSP00000250373:V558M	V	+	1	0	NFATC4	23912853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	2.573000	0.86826	0.655000	0.94253	GTG		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		100	350	0	0	0	1	0	100	350					A	24843013	G	A	24843013	3	1	79	1	0	0	0	0	1	0	0	0	10407	1145	40	1	1883	1	NFATC4	14	24843013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3937	24843013	82506527	14514	24831											
NFATC4	4776	broad.mit.edu	37	chr14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcactgctctgcagcccaGcgctcagcccaggagctgcc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000250373.4	+	6	1878	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000413692.2_Missense_Mutation_p.Q642H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555802.1_5'UTR	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	579	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1924-1926)caG>caT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							32	28	29					14																	24843536		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24843536G>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1737G>T	14.37:g.24843536G>T	ENSP00000250373:p.Gln579His					NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000250373.4_Missense_Mutation_p.Q579H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H	p.Q642H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	7	2070	+			579			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1926G>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907924	0.72868	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.991;0.994;0.991;0.996;0.991;0.982;0.996;0.996;0.996;0.996;0.982;0.991;0.96	T	0.73936	-0.3825	10	0.87932	D	0	-6.7569	9.4289	0.38597	0.0935:0.0:0.9065:0.0	.	567;567;611;611;592;592;592;642;642;567;611;642;579	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	642;642;592;592;592;611;611;611;579;579;579;509;509;509;567;509;567;567;114;114;114	ENSP00000388910:Q642H;ENSP00000452039:Q642H;ENSP00000451224:Q592H;ENSP00000450644:Q592H;ENSP00000388668:Q592H;ENSP00000439350:Q611H;ENSP00000452270:Q611H;ENSP00000451502:Q611H;ENSP00000451151:Q579H;ENSP00000250373:Q579H;ENSP00000450590:Q579H;ENSP00000452349:Q509H;ENSP00000450469:Q509H;ENSP00000450733:Q509H;ENSP00000451454:Q567H;ENSP00000451284:Q509H;ENSP00000396788:Q567H;ENSP00000450686:Q567H;ENSP00000450810:Q114H;ENSP00000451183:Q114H;ENSP00000451395:Q114H	ENSP00000250373:Q579H	Q	+	3	2	NFATC4	23913376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.629000	0.46485	2.644000	0.89710	0.655000	0.94253	CAG		0.647	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		32	135	1	0	8.4185e-14	1	9.11178e-14	32	135					T	24843536	G	T	24843536	3	4	79	1	0	0	0	0	1	0	0	0	10407	962	34	3	1952	3	NFATC4	14	24843536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	24843536	82506004	14515	24832											
NYNRIN	57523	broad.mit.edu	37	chr14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaatacctgaagggcCtgtgcagcccagagctgtgg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(214-216)Ctg>Atg		NYN domain and retroviral integrase containing							68	72	71					14																	24877090		2031	4192	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877090C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.214C>A	14.37:g.24877090C>A	ENSP00000371994:p.Leu72Met						p.L72M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	532	+			72					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.214C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			97	384	1	0	2.13719e-29	1	2.49704e-29	97	384					A	24877090	C	A	24877090	3	1	79	1	0	0	0	0	1	0	0	0	10838	680	24	3	220	3	NYNRIN	14	24877090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33554	24877090	82472450	14516	24833											
NYNRIN	57523	broad.mit.edu	37	chr14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcacaccgcaggaggcaGcaaaccagctggtacggtaa	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGGAGGCAGCAAACCAGCT	0.542																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(841-843)Gca>Tca		NYN domain and retroviral integrase containing							14	16	15					14																	24877717		2112	4232	6344	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877717G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.841G>T	14.37:g.24877717G>T	ENSP00000371994:p.Ala281Ser						p.A281S	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	1159	+			281					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.841G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272766	0.05716	.	.	ENSG00000205978	ENST00000382554	T	0.15718	2.4	4.96	0.915	0.19366	.	5.157060	0.00166	N	0.000013	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21449	-1.0245	10	0.33141	T	0.24	.	3.9295	0.09278	0.276:0.0:0.5574:0.1666	.	281	Q9P2P1	NYNRI_HUMAN	S	281	ENSP00000371994:A281S	ENSP00000371994:A281S	A	+	1	0	NYNRIN	23947557	0.000000	0.05858	0.107000	0.21349	0.066000	0.16364	0.447000	0.21710	0.258000	0.21686	-0.291000	0.09656	GCA		0.542	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			8	137	1	0	2.17888e-05	1	2.22852e-05	8	137					T	24877717	G	T	24877717	3	4	79	1	0	0	0	0	1	0	0	0	10838	971	34	3	847	3	NYNRIN	14	24877717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627	24877717	82471823	14517	24834											
NYNRIN	57523	broad.mit.edu	37	chr14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagatagaagataaactcCtcttccaacctccagtatca	5	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	333					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATAAACTCCTCTTCCAACC	0.592																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(997-999)Ctc>Atc		NYN domain and retroviral integrase containing							55	61	59					14																	24877997		2092	4221	6313	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877997C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.997C>A	14.37:g.24877997C>A	ENSP00000371994:p.Leu333Ile						p.L333I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1315	+			333					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.997C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.144986	0.09134	.	.	ENSG00000205978	ENST00000382554	T	0.09723	2.95	5.15	-0.429	0.12303	.	1.504540	0.04431	N	0.369299	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.39143	-0.9628	10	0.59425	D	0.04	.	4.3648	0.11220	0.0:0.3338:0.1908:0.4754	.	333	Q9P2P1	NYNRI_HUMAN	I	333	ENSP00000371994:L333I	ENSP00000371994:L333I	L	+	1	0	NYNRIN	23947837	0.000000	0.05858	0.177000	0.23020	0.115000	0.19883	0.005000	0.13129	0.024000	0.15214	-0.136000	0.14681	CTC		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			28	156	1	0	4.59853e-10	1	4.86106e-10	28	156					A	24877997	C	A	24877997	3	1	79	1	0	0	0	0	1	0	0	0	10838	681	24	3	1007	3	NYNRIN	14	24877997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	24877997	82471543	14518	24835											
NYNRIN	57523	broad.mit.edu	37	chr14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacatctggcctggctcctgTcccaggcgtgcttcaatttc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	384					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGCTCCTGTCCCAGGCGTG	0.577																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1150-1152)Tcc>Acc		NYN domain and retroviral integrase containing							32	32	32					14																	24878150		1911	4119	6030	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878150T>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1150T>A	14.37:g.24878150T>A	ENSP00000371994:p.Ser384Thr						p.S384T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1468	+			384					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1150T>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961623	0.74016	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	5.36	4.21	0.49690	.	1.265810	0.05502	N	0.558597	T	0.18551	0.0445	L	0.27053	0.805	0.23758	N	0.996923	D	0.55172	0.97	P	0.51833	0.681	T	0.23190	-1.0195	10	0.87932	D	0	.	8.6955	0.34293	0.0:0.0:0.2085:0.7915	.	384	Q9P2P1	NYNRI_HUMAN	T	384	ENSP00000371994:S384T	ENSP00000371994:S384T	S	+	1	0	NYNRIN	23947990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.587000	0.36622	2.246000	0.74042	0.533000	0.62120	TCC		0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			17	147	0	0	0	1	0	17	147					A	24878150	T	A	24878150	3	1	79	1	0	0	0	0	1	0	0	0	10838	1667	58	5	1160	5	NYNRIN	14	24878150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	153	24878150	82471390	14519	24836											
NYNRIN	57523	broad.mit.edu	37	chr14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagctacactcgctcaAgatgctttcaatcacaccct	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	860					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACTCGCTCAAGATGCTTTCA	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2578-2580)aAg>aCg		NYN domain and retroviral integrase containing							204	201	202					14																	24880593		2001	4171	6172	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880593A>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2579A>C	14.37:g.24880593A>C	ENSP00000371994:p.Lys860Thr		OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.K860T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			6	2897	+			860					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2579A>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000205978	ENST00000382554	T	0.44083	0.93	5.02	-0.0439	0.13857	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.44603	0.1301	L	0.36672	1.1	0.25084	N	0.9909	D	0.54601	0.967	P	0.58620	0.842	T	0.33445	-0.9868	9	0.87932	D	0	.	7.177	0.25751	0.5853:0.0:0.4147:0.0	.	860	Q9P2P1	NYNRI_HUMAN	T	860	ENSP00000371994:K860T	ENSP00000371994:K860T	K	+	2	0	NYNRIN	23950433	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.414000	0.52693	0.069000	0.16605	0.383000	0.25322	AAG		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			213	882	0	0	0	1	0	213	882					C	24880593	A	C	24880593	3	2	79	1	0	0	0	0	1	0	0	0	10838	72	3	4	2597	4	NYNRIN	14	24880593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2443	24880593	82468947	14520	24837											
NYNRIN	57523	broad.mit.edu	37	chr14	24884117	24884117	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgatggggccctggacatCgacctcctgccaggggcagc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3160-3162)atC>atT		NYN domain and retroviral integrase containing							77	92	87					14																	24884117		2068	4200	6268	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884117C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3162C>T	14.37:g.24884117C>T							p.I1054I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3480	+			1054					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3162C>T	CCDS45090.1																																																																																				0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			75	375	0	0	0	1	0	75	375					T	24884117	C	T	24884117	2	4	79	1	0	0	0	0	0	0	0	1	10838	874	31	1		1	NYNRIN	14	24884117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3524	24884117	82465423	14521	24838											
NYNRIN	57523	broad.mit.edu	37	chr14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgctgggggagaacCgcctgctcacccccgcggcc	15	17	1	1	rs374730919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1283					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGGGAGAACCGCCTGCTCAC	0.612																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3847-3849)Cgc>Tgc		NYN domain and retroviral integrase containing		C	CYS/ARG	0,3992		0,0,1996	61	66	64		3847	4	0.8	14		64	1,8307		0,1,4153	no	missense	NYNRIN	NM_025081.2	180	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1283/1899	24884802	1,12299	1996	4154	6150	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884802C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3847C>T	14.37:g.24884802C>T	ENSP00000371994:p.Arg1283Cys						p.R1283C	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4165	+			1283					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3847C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214810	0.22373	0.0	1.2E-4	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.93	4.01	0.46588	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.26087	-1.0113	9	0.48119	T	0.1	.	13.0809	0.59114	0.0:0.8251:0.1749:0.0	.	1283	Q9P2P1	NYNRI_HUMAN	C	1283	ENSP00000371994:R1283C	ENSP00000371994:R1283C	R	+	1	0	NYNRIN	23954642	0.996000	0.38824	0.775000	0.31657	0.428000	0.31595	3.095000	0.50235	2.551000	0.86045	0.655000	0.94253	CGC		0.612	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			106	474	0	0	0	1	0	106	474					T	24884802	C	T	24884802	3	4	79	1	0	0	0	0	1	0	0	0	10838	652	23	1	3877	1	NYNRIN	14	24884802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	24884802	82464738	14522	24839											
NYNRIN	57523	broad.mit.edu	37	chr14	24885464	24885464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcagaaactgtctggCtcctcaccgtttagttctgc	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4507-4509)ggC>ggT		NYN domain and retroviral integrase containing							38	41	40					14																	24885464		2009	4170	6179	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885464C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4509C>T	14.37:g.24885464C>T							p.G1503G	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4827	+			1503					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.4509C>T	CCDS45090.1																																																																																				0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			29	136	0	0	0	1	0	29	136					T	24885464	C	T	24885464	2	4	79	1	0	0	0	0	0	0	0	1	10838	784	28	2		2	NYNRIN	14	24885464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	24885464	82464076	14523	24840											
NYNRIN	57523	broad.mit.edu	37	chr14	24886379	24886379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagggtggctgacaaggcGagtgaaaaggccgagaacag	18	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1808					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGACAAGGCGAGTGAAAAGG	0.582																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5422-5424)gcG>gcA		NYN domain and retroviral integrase containing							72	80	78					14																	24886379		2041	4193	6234	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886379G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5424G>A	14.37:g.24886379G>A							p.A1808A	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5742	+			1808					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5424G>A	CCDS45090.1																																																																																				0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			62	331	0	0	0	1	0	62	331					A	24886379	G	A	24886379	2	1	79	1	0	0	0	0	0	0	0	1	10838	1045	37	1		1	NYNRIN	14	24886379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	915	24886379	82463161	14524	24841											
KHNYN	23351	broad.mit.edu	37	chr14	24900668	24900668	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccttcctcccaaccaGgagtacctgaagggcctctg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.e3-1		KH and NYN domain containing							39	34	36					14																	24900668		2202	4298	6500	SO:0001630	splice_region_variant	23351							g.chr14:24900668G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.202-1G>T	14.37:g.24900668G>T			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site				O15037	KHNYN_HUMAN			3	340	+								Q86TZ6|Q8IUQ2|Q96BA9	Splice_Site	SNP	ENST00000251343.5	37		CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764467	0.31228	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6797	0.77357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KHNYN	23970508	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	7.234000	0.78134	2.383000	0.81215	0.563000	0.77884	.		0.562	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		Intron	44	168	1	0	5.34276e-22	1	6.03513e-22	44	168					T	24900668	G	T	24900668	5	4	79	1	0	0	0	0	0	0	1	0	8180	1014	35	3	207	3	KHNYN	14	24900668	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14289	24900668	82448872	14525	24842											
KHNYN	23351	broad.mit.edu	37	chr14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccctgaaagggaagGccctggggaaggaggagata	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	306							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(916-918)Gcc>Acc		KH and NYN domain containing							82	86	85					14																	24901383		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901383G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.916G>A	14.37:g.24901383G>A	ENSP00000251343:p.Ala306Thr		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T	p.A306T			O15037	KHNYN_HUMAN			3	1055	+			306					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.916G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540476	0.13250	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.96	1.95	0.26073	.	1.291830	0.04908	N	0.452731	T	0.14700	0.0355	L	0.27053	0.805	0.19775	N	0.99995	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	4.1275	0.10134	0.1963:0.0:0.6217:0.182	.	347;306	D3DS77;O15037	.;KHNYN_HUMAN	T	306	ENSP00000251343:A306T;ENSP00000451106:A306T;ENSP00000450799:A306T	ENSP00000251343:A306T	A	+	1	0	KHNYN	23971223	0.741000	0.28217	0.110000	0.21437	0.668000	0.39293	1.130000	0.31393	0.507000	0.28148	-0.448000	0.05591	GCC		0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			46	176	0	0	0	1	0	46	176					A	24901383	G	A	24901383	3	1	79	1	0	0	0	0	1	0	0	0	8180	1203	42	2	922	2	KHNYN	14	24901383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715	24901383	82448157	14526	24843											
CMA1	1215	broad.mit.edu	37	chr14	24976656	24976656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggaagttacaatttccaGgtaggccatgtaggggcggg	16	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24976656G>T	ENST00000250378.3	-	2	144	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ACAATTTCCAGGTAGGCCATG	0.517																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(115-117)Ctg>Atg		chymase 1, mast cell							150	143	145					14																	24976656		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976656G>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.115C>A	14.37:g.24976656G>T	ENSP00000250378:p.Leu39Met					CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	p.L39M	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	144	-			39			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.115C>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019589	0.75275	.	.	ENSG00000092009	ENST00000250378	D	0.91124	-2.79	5.01	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39985	N	0.001203	D	0.93314	0.7869	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93113	0.6518	10	0.72032	D	0.01	.	9.3485	0.38122	0.0969:0.0:0.9031:0.0	.	39	P23946	CMA1_HUMAN	M	39	ENSP00000250378:L39M	ENSP00000250378:L39M	L	-	1	2	CMA1	24046496	0.246000	0.23909	0.685000	0.30070	0.489000	0.33432	0.903000	0.28475	1.483000	0.48342	0.655000	0.94253	CTG		0.517	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			161	634	1	0	1.556e-84	1	1.99354e-84	161	634					T	24976656	G	T	24976656	3	4	79	1	0	0	0	0	1	0	0	0	3583	991	35	3	644	3	CMA1	14	24976656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75273	24976656	82372884	14527	24844											
CTSG	1511	broad.mit.edu	37	chr14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagctcctcaccttccccAgcaatgagctgctgtcagca	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	66	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(196-198)Tgg>Cgg		cathepsin G							86	79	81					14																	25044478		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044478A>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.196T>C	14.37:g.25044478A>G	ENSP00000216336:p.Trp66Arg						p.W66R	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	232	-			66			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.196T>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828653	0.16749	.	.	ENSG00000100448	ENST00000216336	D	0.88431	-2.38	5.38	-3.44	0.04796	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.520840	0.04420	N	0.367522	T	0.75925	0.3916	N	0.12746	0.255	0.20196	N	0.999921	B	0.13594	0.008	B	0.22880	0.042	T	0.61496	-0.7051	10	0.25106	T	0.35	.	3.8901	0.09114	0.3929:0.0:0.3384:0.2687	.	66	P08311	CATG_HUMAN	R	66	ENSP00000216336:W66R	ENSP00000216336:W66R	W	-	1	0	CTSG	24114318	0.024000	0.19004	0.030000	0.17652	0.954000	0.61252	0.034000	0.13776	-0.535000	0.06307	-0.333000	0.08304	TGG		0.552	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		68	322	0	0	0	1	0	68	322					G	25044478	A	G	25044478	3	3	79	1	0	0	0	0	1	0	0	0	4046	188	7	4	587	4	CTSG	14	25044478	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67822	25044478	82305062	14528	24845											
STXBP6	29091	broad.mit.edu	37	chr14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctgctcggcctaatcGctctccacgctcattcaagg	7	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	179	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(535-537)Cga>Tga		syntaxin binding protein 6 (amisyn)							184	157	166					14																	25288317		2203	4300	6503	SO:0001587	stop_gained	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288317G>A	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.535C>T	14.37:g.25288317G>A	ENSP00000324302:p.Arg179*					STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*	p.R179*			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	986	-			179			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Nonsense_Mutation	SNP	ENST00000323944.5	37	c.535C>T	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000043	0.54147	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	.	.	.	5.35	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.9822	14.3759	0.66874	0.0:0.0:0.5902:0.4098	.	.	.	.	X	179;179;179;179;179;179;77;179	.	ENSP00000324302:R179X	R	-	1	2	STXBP6	24358157	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	2.682000	0.46934	0.236000	0.21180	-2.160000	0.00327	CGA		0.567	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			164	674	0	0	0	1	0	164	674					A	25288317	G	A	25288317	4	1	79	1	0	0	0	0	0	1	0	0	15410	1095	38	1	105	1	STXBP6	14	25288317	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243839	25288317	82061223	14529	24846											
NOVA1	4857	broad.mit.edu	37	chr14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttccgattccttgtgCcaggtacgaattctcctttt	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	469	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTCCTTGTGCCAGGTACGAA	0.443																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1396-1398)gGc>gAc		neuro-oncological ventral antigen 1							164	135	145					14																	26917292		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917292C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1397G>A	14.37:g.26917292C>T	ENSP00000438875:p.Gly466Asp					NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D	p.G466D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1714	-			469			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1397G>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175514	0.57692	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.57;1.57;1.57	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	M	0.82193	2.58	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.999	D;D;D	0.87578	0.998;0.988;0.991	T	0.64166	-0.6471	10	0.62326	D	0.03	-22.96	20.3151	0.98650	0.0:1.0:0.0:0.0	.	469;442;466	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	442;466;344	ENSP00000447391:G442D;ENSP00000438875:G466D;ENSP00000267422:G344D	ENSP00000267422:G344D	G	-	2	0	NOVA1	25987132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		0.443	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		14	177	0	0	0	1	0	14	177					T	26917292	C	T	26917292	3	4	79	1	0	0	0	0	1	0	0	0	10596	739	26	2	130	2	NOVA1	14	26917292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628975	26917292	80432248	14530	24847											
NOVA1	4857	broad.mit.edu	37	chr14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgacaggatgatactgtAcctgattagctctggaggtg	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000547619.1	-	4	579	c.521T>G	c.(520-522)gTa>gGa	p.V174G	NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000539517.2_Splice_Site			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	177	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATACTGTACCTGATTAGC	0.453																																						ENST00000547619.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(520-522)gTa>gGa		neuro-oncological ventral antigen 1							227	184	199					14																	26941524		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26941524A>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000547619.1:c.521T>G	14.37:g.26941524A>C	ENSP00000448157:p.Val174Gly					NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site	p.V174G			P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	4	579	-			177			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000547619.1	37	c.521T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746807|3.746807	0.69418|0.69418	.|.	.|.	ENSG00000139910|ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429|ENST00000547619	.|T	.|0.48522	.|0.81	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66396	.|0.2785	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70044	.|-0.4980	.|6	.|0.87932	.|D	.|0	.|.	16.3782|16.3782	0.83418|0.83418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|174	.|ENSP00000448157:V174G	.|ENSP00000448157:V174G	.|V	-|-	.|2	.|0	NOVA1|NOVA1	26011364|26011364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.165000|7.165000	0.77544|0.77544	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	.|GTA		0.453	NOVA1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000408504.1	NM_006491		22	107	0	0	0	1	0	22	107					C	26941524	A	C	26941524	3	2	79	1	0	0	0	0	1	0	0	0	10596	405	14	4	1041	4	NOVA1	14	26941524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24232	26941524	80408016	14531	24848											
NOVA1	4857	broad.mit.edu	37	chr14	27064755	27064755	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttagaaaatactggccGtcttctgaaaaatgcaaaga	7	8	2	3	rs141059341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:27064755G>A	ENST00000267422.7	-	0	140				NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000551754.1_5'Flank			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AATACTGGCCGTCTTCTGAAA	0.393																																						ENST00000267422.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40								neuro-oncological ventral antigen 1		G	,,	0,4406		0,0,2203	69	65	66		141,141,141	4.9	1	14	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	NOVA1	NM_002515.2,NM_006489.2,NM_006491.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	47/508,47/484,47/182	27064755	2,13004	2203	4300	6503			4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064755G>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000267422.7:c.-328C>T	14.37:g.27064755G>A						NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D				P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	0	140	-								A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Translation_Start_Site	SNP	ENST00000267422.7	37																																																																																						0.393	NOVA1-201	KNOWN	basic	protein_coding	protein_coding		NM_006491		7	260	0	0	0	1	0	7	260					A	27064755	G	A	27064755	1	1	79	1	0	1	0	0	0	0	0	0	10596	1136	40	1		1	NOVA1	14	27064755	De_novo_Start_OutOfFrame	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123231	27064755	80284785	14532	24849											
FOXG1	2290	broad.mit.edu	37	chr14	29236501	29236501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtgatgctggacatgggaGataggaaagaggtgaaaatg	18	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	ENST00000313071.4	+	1	215	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.D6N|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	6					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACATGGGAGATAGGAAAGA	0.682																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(16-18)Gat>Aat		forkhead box G1							38	33	35					14																	29236501		2197	4294	6491	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236501G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.16G>A	14.37:g.29236501G>A	ENSP00000339004:p.Asp6Asn					FOXG1_ENST00000313071.4_Missense_Mutation_p.D6N	p.D6N			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	385	+			6					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.16G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94828	-3.53;-3.53	1.99	1.0	0.19881	.	.	.	.	.	D	0.89259	0.6664	L	0.27053	0.805	0.27461	N	0.953154	B	0.28026	0.198	B	0.29862	0.108	T	0.81780	-0.0776	9	0.72032	D	0.01	.	9.1221	0.36793	0.0:0.0:0.7789:0.2211	.	6	P55316	FOXG1_HUMAN	N	6	ENSP00000371975:D6N;ENSP00000339004:D6N	ENSP00000339004:D6N	D	+	1	0	FOXG1	28306252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.340000	0.59328	0.129000	0.18514	-0.553000	0.04205	GAT		0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			7	51	0	0	0	1	0	7	51					A	29236501	G	A	29236501	3	1	79	1	0	0	0	0	1	0	0	0	6034	942	33	2	18	2	FOXG1	14	29236501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2171746	29236501	78113039	14533	24850											
FOXG1	2290	broad.mit.edu	37	chr14	29236593	29236593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgacaaccaccacgcgagCcacggccaccacaacagcca	7	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000313071.4	+	1	307	c.108C>T	c.(106-108)agC>agT	p.S36S	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Silent_p.S36S|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	36	His-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACGCGAGCCACGGccacc	0.667																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(106-108)agC>agT		forkhead box G1							37	39	38					14																	29236593		2111	4165	6276	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236593C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.108C>T	14.37:g.29236593C>T						FOXG1_ENST00000313071.4_Silent_p.S36S	p.S36S			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	477	+			36			His-rich.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.108C>T	CCDS9636.1																																																																																				0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			14	48	0	0	0	1	0	14	48					T	29236593	C	T	29236593	2	4	79	1	0	0	0	0	0	0	0	1	6034	738	26	2		2	FOXG1	14	29236593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	29236593	78112947	14534	24851											
FOXG1	2290	broad.mit.edu	37	chr14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcaccacctcacggccGccgcgctagccgcctcggtg	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000313071.4	+	1	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCACGGCCGCCGCGCTAGC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1144-1146)Gcc>Acc		forkhead box G1							41	36	38					14																	29237629		2202	4297	6499	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237629G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1144G>A	14.37:g.29237629G>A	ENSP00000339004:p.Ala382Thr					FOXG1_ENST00000313071.4_Missense_Mutation_p.A382T	p.A382T			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1513	+			382					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1144G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886739	0.33348	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.88533	0.6462	N	0.19112	0.55	0.53005	D	0.999967	D	0.57899	0.981	B	0.44315	0.446	D	0.87944	0.2719	10	0.28530	T	0.3	.	16.9273	0.86180	0.0:0.0:1.0:0.0	.	382	P55316	FOXG1_HUMAN	T	382	ENSP00000371975:A382T;ENSP00000339004:A382T	ENSP00000339004:A382T	A	+	1	0	FOXG1	28307380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.678000	0.98647	2.042000	0.60477	0.491000	0.48974	GCC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			80	263	0	0	0	1	0	80	263					A	29237629	G	A	29237629	3	1	79	1	0	0	0	0	1	0	0	0	6034	1087	38	1	1146	1	FOXG1	14	29237629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	29237629	78111911	14535	24852											
PRKD1	5587	broad.mit.edu	37	chr14	30107904	30107904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatcatccttacctttGcactgcaagccctgcctgaa	5	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000415220.2_Silent_p.C309C|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	301					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTACCTTTGCACTGCAAGC	0.458																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(901-903)tgC>tgT		protein kinase D1							56	51	53					14																	30107904		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107904G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.903C>T	14.37:g.30107904G>A						PRKD1_ENST00000415220.2_Silent_p.C309C|PRKD1_ENST00000551644.1_5'UTR	p.C301C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	1132	-	Hepatocellular(127;0.0604)		301					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.903C>T	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		36	151	0	0	0	1	0	36	151					A	30107904	G	A	30107904	2	1	79	1	0	0	0	0	0	0	0	1	12565	1311	46	2		2	PRKD1	14	30107904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870275	30107904	77241636	14536	24853											
PRKD1	5587	broad.mit.edu	37	chr14	30107919	30107919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcactgcaagccctgCctgaaaagccccttcagaag	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000415220.2_Silent_p.R304R|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	296					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGCCCTGCCTGAAAAGCC	0.458																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(886-888)agG>agA		protein kinase D1							59	54	56					14																	30107919		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107919C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.888G>A	14.37:g.30107919C>T						PRKD1_ENST00000415220.2_Silent_p.R304R|PRKD1_ENST00000551644.1_5'UTR	p.R296R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	1117	-	Hepatocellular(127;0.0604)		296					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.888G>A	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		8	193	0	0	0	1	0	8	193					T	30107919	C	T	30107919	2	4	79	1	0	0	0	0	0	0	0	1	12565	738	26	2		2	PRKD1	14	30107919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	30107919	77241621	14537	24854											
G2E3	55632	broad.mit.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A													tagagttaggattccaaattINSaaaaaaaaaactaaaagatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		7	111						7	111	---	---	---	---	A	31074772	-	A	31074771	7	5	79	1	0	1	1	0	0	0	0	0	6167	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	966852	31074771	76274769	14538	24855											
G2E3	55632	broad.mit.edu	37	chr14	31077197	31077197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaaaccttgtttaactgCcttgtttatggaccagaaaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000553504.1_Silent_p.C504C|G2E3_ENST00000438909.2_Silent_p.C428C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	474	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1420-1422)tgC>tgT		G2/M-phase specific E3 ubiquitin protein ligase							135	123	127					14																	31077197		2203	4300	6503	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077197C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1422C>T	14.37:g.31077197C>T						G2E3_ENST00000553504.1_Silent_p.C504C|G2E3_ENST00000438909.2_Silent_p.C428C	p.C474C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			12	1576	+			474			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.1422C>T	CCDS9638.1																																																																																				0.368	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		80	411	0	0	0	1	0	80	411					T	31077197	C	T	31077197	2	4	79	1	0	0	0	0	0	0	0	1	6167	747	26	2		2	G2E3	14	31077197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2426	31077197	76272343	14539	24856											
G2E3	55632	broad.mit.edu	37	chr14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaattcccatcaccaataCatataaagagtttcaagaaa	4	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000553504.1_Missense_Mutation_p.T707I|G2E3_ENST00000438909.2_Missense_Mutation_p.T631I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	677	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2029-2031)aCa>aTa		G2/M-phase specific E3 ubiquitin protein ligase							60	57	58					14																	31085649		2202	4300	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31085649C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2030C>T	14.37:g.31085649C>T	ENSP00000206595:p.Thr677Ile					G2E3_ENST00000553504.1_Missense_Mutation_p.T707I|G2E3_ENST00000438909.2_Missense_Mutation_p.T631I	p.T677I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			15	2184	+			677			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.2030C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961191	0.74016	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.51325	0.71;0.71;0.71	5.8	5.8	0.92144	HECT (3);	0.207572	0.50627	D	0.000104	T	0.67748	0.2926	M	0.69823	2.125	0.41583	D	0.988754	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.70400	-0.4882	10	0.87932	D	0	-14.5557	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	189;677	Q49AD9;Q7L622	.;G2E3_HUMAN	I	677;631;707	ENSP00000206595:T677I;ENSP00000391068:T631I;ENSP00000451653:T707I	ENSP00000206595:T677I	T	+	2	0	G2E3	30155400	0.070000	0.21116	0.997000	0.53966	0.850000	0.48378	2.887000	0.48586	2.736000	0.93811	0.591000	0.81541	ACA		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		29	158	0	0	0	1	0	29	158					T	31085649	C	T	31085649	3	4	79	1	0	0	0	0	1	0	0	0	6167	478	17	2	2084	2	G2E3	14	31085649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8452	31085649	76263891	14540	24857											
SCFD1	23256	broad.mit.edu	37	chr14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttttcagaaactagAcaagaaacttcgagaaaatc	5	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	226					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(676-678)gAc>gGc		sec1 family domain containing 1							45	50	49					14																	31119778		2203	4292	6495	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31119778A>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.677A>G	14.37:g.31119778A>G	ENSP00000390783:p.Asp226Gly					SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G	p.D226G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	9	904	+	Hepatocellular(127;0.0877)		226					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.677A>G	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383097	0.82792	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.82193	2.58	0.80722	D	1	P;D;D;D	0.89917	0.888;1.0;1.0;1.0	P;D;D;D	0.80764	0.83;0.989;0.994;0.989	D	0.90252	0.4294	10	0.87932	D	0	-12.2595	15.1704	0.72869	1.0:0.0:0.0:0.0	.	167;159;134;226	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	226;159;167;41;67;134;81	ENSP00000390783:D226G;ENSP00000443010:D159G;ENSP00000388078:D167G;ENSP00000443537:D41G;ENSP00000452308:D67G;ENSP00000379870:D134G;ENSP00000452448:D81G	ENSP00000309417:D234G	D	+	2	0	SCFD1	30189529	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.600000	0.90860	2.180000	0.69256	0.533000	0.62120	GAC		0.294	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		35	153	0	0	0	1	0	35	153					G	31119778	A	G	31119778	3	3	79	1	0	0	0	0	1	0	0	0	13939	275	10	4	711	4	SCFD1	14	31119778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34129	31119778	76229762	14541	24858											
SCFD1	23256	broad.mit.edu	37	chr14	31144232	31144232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaaagacttattgatctCcatacaaatgttgccactgc	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000421551.3_Silent_p.L342L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	401					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1201-1203)ctC>ctT		sec1 family domain containing 1							72	73	72					14																	31144232		2203	4298	6501	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31144232C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1203C>T	14.37:g.31144232C>T						SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000421551.3_Silent_p.L342L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000541123.1_Silent_p.L216L	p.L401L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	14	1430	+	Hepatocellular(127;0.0877)		401					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1203C>T	CCDS9639.1																																																																																				0.299	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		49	264	0	0	0	1	0	49	264					T	31144232	C	T	31144232	2	4	79	1	0	0	0	0	0	0	0	1	13939	842	30	2		2	SCFD1	14	31144232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24454	31144232	76205308	14542	24859											
COCH	1690	broad.mit.edu	37	chr14	31348032	31348032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggggagtaatcagcaaCtcagggggacctgtacgagt	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000396618.3	+	5	311	c.255C>T	c.(253-255)aaC>aaT	p.N85N	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000382493.4_5'Flank	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	85	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAATCAGCAACTCAGGGGGAC	0.458																																						ENST00000396618.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(253-255)aaC>aaT		cochlin							103	91	95					14																	31348032		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348032C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.255C>T	14.37:g.31348032C>T						COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N	p.N85N	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	5	311	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		85			LCCL.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.255C>T	CCDS9640.1																																																																																				0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		45	266	0	0	0	1	0	45	266					T	31348032	C	T	31348032	2	4	79	1	0	0	0	0	0	0	0	1	3665	564	20	2		2	COCH	14	31348032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203800	31348032	76001508	14543	24860											
COCH	1690	broad.mit.edu	37	chr14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgcctttctaattgatgGctccagcagtgttggagata	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000396618.3	+	11	1177	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000460581.2_Missense_Mutation_p.G262V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.G225V	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	374	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTAATTGATGGCTCCAGCAGT	0.423																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(784-786)gGc>gTc		cochlin							101	86	91					14																	31355162		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355162G>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1121G>T	14.37:g.31355162G>T	ENSP00000379862:p.Gly374Val					COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000396618.3_Missense_Mutation_p.G374V|COCH_ENST00000382493.4_Missense_Mutation_p.G225V	p.G262V			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1331	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		374			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.785G>T	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713168|4.713168	0.89112|0.89112	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	.|D;D;D;D;D	.|0.84370	.|-1.84;-1.84;-1.84;-1.84;-1.84	6.02|6.02	6.02|6.02	0.97574|0.97574	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.91038|0.91038	3.17|3.17	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	0.94690|0.94690	0.7873|0.7873	5|10	.|0.87932	.|D	.|0	-14.0876|-14.0876	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;374;374	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	S|V	258|374;374;374;262;225	.|ENSP00000216361:G374V;ENSP00000379862:G374V;ENSP00000451528:G374V;ENSP00000451713:G262V;ENSP00000371933:G225V	.|ENSP00000216361:G374V	A|G	+|+	1|2	0|0	COCH|COCH	30424913|30424913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.827000|9.827000	0.99397|0.99397	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.423	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		55	295	1	0	2.01807e-28	1	2.34828e-28	55	295					T	31355162	G	T	31355162	3	4	79	1	0	0	0	0	1	0	0	0	3665	1203	42	3	1159	3	COCH	14	31355162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7130	31355162	75994378	14544	24861											
COCH	1690	broad.mit.edu	37	chr14	31355352	31355352	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctagctgtcatcagaaacatCcgctatatgagtggtggaac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355352C>A	ENST00000396618.3	+	11	1367	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000460581.2_Silent_p.I325I|COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Silent_p.I288I	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGAAACATCCGCTATATGA	0.453																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(973-975)atC>atA		cochlin							152	127	135					14																	31355352		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355352C>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1311C>A	14.37:g.31355352C>A						COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000396618.3_Silent_p.I437I|COCH_ENST00000382493.4_Silent_p.I288I	p.I325I			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1521	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		437			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.975C>A	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479494	0.44044	.	.	ENSG00000100473	ENST00000468826	.	.	.	5.89	1.97	0.26223	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	-16.2163	6.53	0.22322	0.2206:0.5955:0.0:0.1839	.	.	.	.	Y	321	.	.	S	+	2	0	COCH	30425103	0.911000	0.30947	0.998000	0.56505	0.980000	0.70556	0.214000	0.17541	0.080000	0.16959	0.557000	0.71058	TCC		0.453	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		15	431	1	0	6.72482e-11	1	7.15107e-11	15	431					A	31355352	C	A	31355352	2	1	79	1	0	0	0	0	0	0	0	1	3665	845	30	3		3	COCH	14	31355352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	31355352	75994188	14545	24862											
STRN3	29966	broad.mit.edu	37	chr14	31374730	31374730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatatgagctggatcacaGcctataaagtcaactgatgt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000357479.5	-	15	2119	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	STRN3_ENST00000355683.5_Silent_p.G557G	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	641					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1669-1671)ggC>ggA		striatin, calmodulin binding protein 3							109	100	103					14																	31374730		2203	4299	6502	SO:0001819	synonymous_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31374730G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1923C>A	14.37:g.31374730G>T						STRN3_ENST00000357479.5_Silent_p.G641G	p.G557G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	13	1886	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		641					A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	c.1671C>A	CCDS41938.1																																																																																				0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		60	222	1	0	1.08141e-31	1	1.27425e-31	60	222					T	31374730	G	T	31374730	2	4	79	1	0	0	0	0	0	0	0	1	15382	958	34	3		3	STRN3	14	31374730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19378	31374730	75974810	14546	24863											
STRN3	29966	broad.mit.edu	37	chr14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtaatgaccttacccgCtgagaccgtacatctaatat	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000357479.5	-	5	790	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000355683.5_Missense_Mutation_p.Q198H	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	198					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(592-594)caG>caT		striatin, calmodulin binding protein 3							149	145	147					14																	31416418		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416418C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.594G>T	14.37:g.31416418C>A	ENSP00000350071:p.Gln198His					STRN3_ENST00000357479.5_Missense_Mutation_p.Q198H	p.Q198H	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	809	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		198					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.594G>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491504	0.44249	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.9	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.51351	0.944;0.035	B;B	0.41202	0.35;0.028	T	0.78866	-0.2035	10	0.54805	T	0.06	0.5774	10.3793	0.44101	0.0:0.8053:0.0:0.1947	.	198;198	Q13033-2;Q13033	.;STRN3_HUMAN	H	198;198;79	ENSP00000347909:Q198H;ENSP00000350071:Q198H	ENSP00000347909:Q198H	Q	-	3	2	STRN3	30486169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	0.812000	0.34326	0.591000	0.81541	CAG		0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		70	441	1	0	4.9621e-21	1	5.57887e-21	70	441					A	31416418	C	A	31416418	3	1	79	1	0	0	0	0	1	0	0	0	15382	796	28	3	1855	3	STRN3	14	31416418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41688	31416418	75933122	14547	24864											
HECTD1	25831	broad.mit.edu	37	chr14	31576881	31576881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctaatgtgggtcccaaGccagttccttcttctcctaa	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2170	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGGTCCCAAGCCAGTTCCTT	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6508-6510)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 1							66	63	64					14																	31576881		1804	4071	5875	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576881G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6510C>T	14.37:g.31576881G>A						HECTD1_ENST00000553700.1_Silent_p.G2170G	p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	37	6998	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2170			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.6510C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.390926	0.11581	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.4	0.363	0.16118	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-7.9649	1.3289	0.02130	0.2089:0.1226:0.4159:0.2526	.	.	.	.	V	536	.	.	A	-	2	0	HECTD1	30646632	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.423000	0.21313	-0.210000	0.10140	-0.274000	0.10170	GCT		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			64	236	0	0	0	1	0	64	236					A	31576881	G	A	31576881	2	1	79	1	0	0	0	0	0	0	0	1	7069	958	34	2		2	HECTD1	14	31576881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160463	31576881	75772659	14548	24865											
HECTD1	25831	broad.mit.edu	37	chr14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaccaactgataaaactGttgttgctgtagctacattg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1626	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGATAAAACTGTTGTTGCTGT	0.423																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(4876-4878)aCa>aTa		HECT domain containing E3 ubiquitin protein ligase 1							151	142	145					14																	31597095		1960	4157	6117	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597095G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4877C>T	14.37:g.31597095G>A	ENSP00000382269:p.Thr1626Ile					HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	26	5365	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1626			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4877C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965877	0.53507	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.08282	3.11;3.11;3.11	6.04	6.04	0.98038	.	0.000000	0.85682	U	0.000000	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.04976	-1.0914	10	0.26408	T	0.33	-11.9377	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1626;1626	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1626;1628;1626;1053	ENSP00000450697:T1626I;ENSP00000382269:T1626I;ENSP00000451860:T1053I	ENSP00000261312:T1628I	T	-	2	0	HECTD1	30666846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.845000	0.99498	2.873000	0.98535	0.561000	0.74099	ACA		0.423	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			74	323	0	0	0	1	0	74	323					A	31597095	G	A	31597095	3	1	79	1	0	0	0	0	1	0	0	0	7069	1377	48	2	3027	2	HECTD1	14	31597095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20214	31597095	75752445	14549	24866											
HECTD1	25831	broad.mit.edu	37	chr14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtacacttgcactagaGctcataggggccccagcagc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1529	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACTAGAGCTCATAGGGG	0.453																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(4585-4587)agC>agA		HECT domain containing E3 ubiquitin protein ligase 1							69	63	65					14																	31597990		1910	4126	6036	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597990G>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4587C>A	14.37:g.31597990G>T	ENSP00000382269:p.Ser1529Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	5075	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1529			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4587C>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036545	0.35893	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.56103	0.85;0.85;0.48	6.16	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.54853	-0.8231	10	0.40728	T	0.16	-7.3109	9.5157	0.39104	0.2074:0.0:0.7926:0.0	.	1529;1529	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1529;1531;1529;956	ENSP00000450697:S1529R;ENSP00000382269:S1529R;ENSP00000451860:S956R	ENSP00000261312:S1531R	S	-	3	2	HECTD1	30667741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	1.626000	0.50381	0.650000	0.86243	AGC		0.453	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	143	1	0	1.7489e-18	1	1.94175e-18	44	143					T	31597990	G	T	31597990	3	4	79	1	0	0	0	0	1	0	0	0	7069	962	34	3	3321	3	HECTD1	14	31597990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895	31597990	75751550	14550	24867											
HECTD1	25831	broad.mit.edu	37	chr14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgaagtagatggctttActtggcctcgagctctttgt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	735					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGATGGCTTTACTTGGCCTCG	0.363																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2203-2205)gTa>gCa		HECT domain containing E3 ubiquitin protein ligase 1							145	124	130					14																	31618318		1870	4105	5975	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31618318A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2204T>C	14.37:g.31618318A>G	ENSP00000382269:p.Val735Ala					HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	14	2692	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		735					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2204T>C	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717245	0.89205	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.924	P;P	0.59424	0.675;0.857	T	0.12811	-1.0533	10	0.54805	T	0.06	-15.8141	15.9701	0.80008	1.0:0.0:0.0:0.0	.	735;735	D3DS86;Q9ULT8	.;HECD1_HUMAN	A	735;735;735;209;735	ENSP00000450697:V735A;ENSP00000382269:V735A;ENSP00000451860:V209A;ENSP00000452015:V735A	ENSP00000261312:V735A	V	-	2	0	HECTD1	30688069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.317000	0.96327	2.166000	0.68216	0.528000	0.53228	GTA		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	173	0	0	0	1	0	44	173					G	31618318	A	G	31618318	3	3	79	1	0	0	0	0	1	0	0	0	7069	391	14	4	5748	4	HECTD1	14	31618318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20328	31618318	75731222	14551	24868											
HECTD1	25831	broad.mit.edu	37	chr14	31641142	31641142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctattaacatctgcAcctctctcacaaagaaattc	3	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	419					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACATCTGCACCTCTCTCAC	0.303																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(1255-1257)ggT>ggC		HECT domain containing E3 ubiquitin protein ligase 1							98	91	93					14																	31641142		1829	4086	5915	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31641142A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1257T>C	14.37:g.31641142A>G						HECTD1_ENST00000553700.1_Silent_p.G419G	p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	8	1745	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		419					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.1257T>C	CCDS41939.1																																																																																				0.303	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			38	178	0	0	0	1	0	38	178					G	31641142	A	G	31641142	2	3	79	1	0	0	0	0	0	0	0	1	7069	146	6	4		4	HECTD1	14	31641142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22824	31641142	75708398	14552	24869											
HECTD1	25831	broad.mit.edu	37	chr14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggctggtaagaaagTgcgaggaggacatctgtagt	16	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	52					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTAAGAAAGTGCGAGGAGGA	0.338																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(154-156)Act>Gct		HECT domain containing E3 ubiquitin protein ligase 1							62	58	59					14																	31647447		1851	4087	5938	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31647447T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.154A>G	14.37:g.31647447T>C	ENSP00000382269:p.Thr52Ala					HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	3	642	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		52					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.154A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572636	0.86542	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.82323	2.585	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.59590	-0.7426	10	0.42905	T	0.14	-15.7729	15.1789	0.72938	0.0:0.0:0.0:1.0	.	52	Q9ULT8	HECD1_HUMAN	A	52	ENSP00000450697:T52A;ENSP00000382269:T52A;ENSP00000452015:T52A	ENSP00000261312:T52A	T	-	1	0	HECTD1	30717198	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.655000	0.83696	2.047000	0.60756	0.397000	0.26171	ACT		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			52	254	0	0	0	1	0	52	254					C	31647447	T	C	31647447	3	2	79	1	0	0	0	0	1	0	0	0	7069	1696	59	4	7842	4	HECTD1	14	31647447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6305	31647447	75702093	14553	24870											
HEATR5A	25938	broad.mit.edu	37	chr14	31771685	31771685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctctctgaggaccccGattgtgaggtacaatatagt	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31771685G>A	ENST00000389961.3	-	32	5261	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000543095.2_Silent_p.I1760I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.I1467I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1754										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGAGGACCCCGATTGTGAGGT	0.403																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5278-5280)atC>atT		HEAT repeat containing 5A							30	32	31					14																	31771685		1837	4090	5927	SO:0001819	synonymous_variant	25938						binding	g.chr14:31771685G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5262C>T	14.37:g.31771685G>A						HEATR5A_ENST00000439727.1_Silent_p.I1467I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000389961.3_Silent_p.I1754I	p.I1760I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	33	5464	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1754					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5280C>T																																																																																					0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		9	45	0	0	0	1	0	9	45					A	31771685	G	A	31771685	2	1	79	1	0	0	0	0	0	0	0	1	7061	1048	37	1		1	HEATR5A	14	31771685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124238	31771685	75577855	14554	24871											
HEATR5A	25938	broad.mit.edu	37	chr14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttggggctttctagggctCccataactaatgttaaggca	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000389961.3	-	17	2569	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G863E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	857										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTCTAGGGCTCCCATAACTAA	0.448																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2587-2589)gGa>gAa		HEAT repeat containing 5A							48	47	47					14																	31819115		1879	4114	5993	SO:0001583	missense	25938						binding	g.chr14:31819115C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2570G>A	14.37:g.31819115C>T	ENSP00000374611:p.Gly857Glu					HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.G857E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E	p.G863E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	18	2772	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		857					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2588G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637646|3.637646	0.67130|0.67130	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.119841	.|0.56097	.|D	.|0.000036	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.66939|0.66939	2.045|2.045	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P;D	.|0.63046	.|0.992;0.516;0.975	.|P;B;P	.|0.55785	.|0.736;0.26;0.784	T|T	0.68849|0.68849	-0.5300|-0.5300	5|10	.|0.45353	.|T	.|0.12	.|.	14.9096|14.9096	0.70746|0.70746	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|863;857;857	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	491|857;857;570;863;863	.|ENSP00000374611:G857E;ENSP00000405407:G857E;ENSP00000408681:G570E;ENSP00000437968:G863E;ENSP00000384646:G863E	.|ENSP00000374611:G857E	E|G	-|-	1|2	0|0	HEATR5A|HEATR5A	30888866|30888866	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.660000|3.660000	0.54496|0.54496	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		19	70	0	0	0	1	0	19	70					T	31819115	C	T	31819115	3	4	79	1	0	0	0	0	1	0	0	0	7061	855	30	2	3628	2	HEATR5A	14	31819115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47430	31819115	75530425	14555	24872											
HEATR5A	25938	broad.mit.edu	37	chr14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcagaactcgagcaaggtGatggctaacaactgcaggac	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000389961.3	-	11	1710	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.H577Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	571										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAGCAAGGTGATGGCTAACA	0.413																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1729-1731)Cac>Tac		HEAT repeat containing 5A							61	63	63					14																	31844154		1935	4139	6074	SO:0001583	missense	25938						binding	g.chr14:31844154G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1711C>T	14.37:g.31844154G>A	ENSP00000374611:p.His571Tyr					HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.H571Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y	p.H577Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	12	1913	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		571					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1729C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981905|3.981905	0.74474|0.74474	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.051661|.	0.85682|.	D|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.997;0.92;0.999|.	D;P;D|.	0.67725|.	0.92;0.615;0.953|.	T|T	0.83343|0.83343	-0.0007|-0.0007	10|5	0.07990|.	T|.	0.79|.	.|.	19.8765|19.8765	0.96875|0.96875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	577;571;571|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	571;571;284;577;577|219	ENSP00000374611:H571Y;ENSP00000405407:H571Y;ENSP00000408681:H284Y;ENSP00000437968:H577Y;ENSP00000384646:H577Y|.	ENSP00000374611:H571Y|.	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30913905|30913905	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.725000|5.725000	0.68507|0.68507	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAC|TCA		0.413	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		23	60	0	0	0	1	0	23	60					A	31844154	G	A	31844154	3	1	79	1	0	0	0	0	1	0	0	0	7061	1290	45	2	4511	2	HEATR5A	14	31844154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25039	31844154	75505386	14556	24873											
ARHGAP5	394	broad.mit.edu	37	chr14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagcaccattgactttggaGgacgagtagtaaacaatgat	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	64					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGACTTTGGAGGACGAGTAGT	0.368																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(190-192)Gga>Tga		Rho GTPase activating protein 5							137	133	134					14																	32560065		2203	4300	6503	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560065G>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.190G>T	14.37:g.32560065G>T	ENSP00000371897:p.Gly64*					ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*	p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	505	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		64					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.190G>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055869	0.76074	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000371897:G64X	G	+	1	0	ARHGAP5	31629816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		87	521	1	0	7.69131e-47	1	9.45669e-47	87	521					T	32560065	G	T	32560065	4	4	79	1	0	0	0	0	0	1	0	0	886	1001	35	3	192	3	ARHGAP5	14	32560065	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715911	32560065	74789475	14557	24874											
ARHGAP5	394	broad.mit.edu	37	chr14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgaataacctttttgTccagttatcaaaatcaaaaa	4	6	2	1	rs369503160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	185					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACCTTTTTGTCCAGTTATCA	0.328																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(553-555)gTc>gCc		Rho GTPase activating protein 5							65	66	66					14																	32560429		2202	4296	6498	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560429T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.554T>C	14.37:g.32560429T>C	ENSP00000371897:p.Val185Ala					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A	p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	869	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		185					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.554T>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171826	0.06421	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.78	5.78	0.91487	.	0.179418	0.47852	D	0.000212	T	0.43277	0.1240	N	0.01668	-0.77	0.30798	N	0.740217	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41324	-0.9515	10	0.07325	T	0.83	.	10.4499	0.44516	0.0:0.0724:0.0:0.9276	.	185;185	Q13017-2;Q13017	.;RHG05_HUMAN	A	185	ENSP00000452222:V185A;ENSP00000441692:V185A;ENSP00000371897:V185A;ENSP00000393307:V185A	ENSP00000371897:V185A	V	+	2	0	ARHGAP5	31630180	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.194000	0.70268	0.533000	0.62120	GTC		0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		106	364	0	0	0	1	0	106	364					C	32560429	T	C	32560429	3	2	79	1	0	0	0	0	1	0	0	0	886	1667	58	4	556	4	ARHGAP5	14	32560429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	364	32560429	74789111	14558	24875											
ARHGAP5	394	broad.mit.edu	37	chr14	32561798	32561798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggttgatgccaaatcGccttactttttgagtcagtt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000432921.1_Silent_p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCCAAATCGCCTTACTTTT	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1921-1923)tcG>tcA		Rho GTPase activating protein 5							140	138	138					14																	32561798		2203	4300	6503	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561798G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1923G>A	14.37:g.32561798G>A						ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S641S	p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2238	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		641					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1923G>A	CCDS32062.1																																																																																				0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		153	658	0	0	0	1	0	153	658					A	32561798	G	A	32561798	2	1	79	1	0	0	0	0	0	0	0	1	886	1074	38	1		1	ARHGAP5	14	32561798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1369	32561798	74787742	14559	24876											
ARHGAP5	394	broad.mit.edu	37	chr14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtacatatcctcgtaAatttaatgaaacccaaataa	5	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	740					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCTCGTAAATTTAATGAA	0.403																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2218-2220)aAa>aCa		Rho GTPase activating protein 5							79	78	78					14																	32562094		2202	4300	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562094A>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2219A>C	14.37:g.32562094A>C	ENSP00000371897:p.Lys740Thr					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T	p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2534	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		740					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2219A>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795819	0.31777	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.5	5.5	0.81552	.	0.041205	0.85682	D	0.000000	T	0.37892	0.1020	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.25291	0.059;0.027	T	0.12372	-1.0550	10	0.33141	T	0.24	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	740;740	Q13017-2;Q13017	.;RHG05_HUMAN	T	740	ENSP00000452222:K740T;ENSP00000441692:K740T;ENSP00000371897:K740T;ENSP00000393307:K740T	ENSP00000371897:K740T	K	+	2	0	ARHGAP5	31631845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.206000	0.71126	0.528000	0.53228	AAA		0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		113	423	0	0	0	1	0	113	423					C	32562094	A	C	32562094	3	2	79	1	0	0	0	0	1	0	0	0	886	14	1	4	2221	4	ARHGAP5	14	32562094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296	32562094	74787446	14560	24877											
AKAP6	9472	broad.mit.edu	37	chr14	32902714	32902714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatgttaaccatgagCgtgacactttcccccctgag	7	14	1	3	rs575539231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000280979.4	+	2	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	5					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)			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)		TAACCATGAGCGTGACACTTT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(13-15)agC>agT		A kinase (PRKA) anchor protein 6							80	73	75					14																	32902714		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902714C>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.15C>T	14.37:g.32902714C>T						AKAP6_ENST00000557272.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Silent_p.S5S	p.S5S	NM_004274.4	NP_004265.3	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)	2	185	+	Breast(36;0.0388)|Prostate(35;0.15)		5					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.15C>T	CCDS9644.1																																																																																				0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		36	203	0	0	0	1	0	36	203					T	32902714	C	T	32902714	2	4	79	1	0	0	0	0	0	0	0	1	455	767	27	1		1	AKAP6	14	32902714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340620	32902714	74446826	14561	24878											
AKAP6	9472	broad.mit.edu	37	chr14	33004822	33004822	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctccttgaaacagagttCtccctaaagctgctgtctta	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33004822C>A	ENST00000280979.4	+	3	557	c.387C>A	c.(385-387)ttC>ttA	p.F129L	AKAP6_ENST00000557354.1_Missense_Mutation_p.F129L|AKAP6_ENST00000557272.1_Missense_Mutation_p.F129L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	129					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)			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)		AAACAGAGTTCTCCCTAAAGC	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(385-387)ttC>ttA		A kinase (PRKA) anchor protein 6							153	129	137					14																	33004822		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33004822C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.387C>A	14.37:g.33004822C>A	ENSP00000280979:p.Phe129Leu					AKAP6_ENST00000557272.1_Missense_Mutation_p.F129L|AKAP6_ENST00000557354.1_Missense_Mutation_p.F129L	p.F129L	NM_004274.4	NP_004265.3	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)	3	557	+	Breast(36;0.0388)|Prostate(35;0.15)		129					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.387C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748501	0.69533	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.35605	2.56;1.32;1.3	5.8	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.66939	2.045	0.47476	D	0.999432	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	T	0.53697	-0.8402	10	0.87932	D	0	-14.2245	6.5087	0.22210	0.0:0.6851:0.0:0.3149	.	129;129	A7E242;Q13023	.;AKAP6_HUMAN	L	129	ENSP00000280979:F129L;ENSP00000450531:F129L;ENSP00000451247:F129L	ENSP00000280979:F129L	F	+	3	2	AKAP6	32074573	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.117000	0.41939	1.460000	0.47911	-0.229000	0.12294	TTC		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	519	1	0	0.000157383	1	0.000159814	8	519					A	33004822	C	A	33004822	3	1	79	1	0	0	0	0	1	0	0	0	455	912	32	3	393	3	AKAP6	14	33004822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102108	33004822	74344718	14562	24879											
AKAP6	9472	broad.mit.edu	37	chr14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtccagtatgcctctcGctggcatgaaaaagtatgct	11	9	1	1	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	731					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.A731T(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)		TATGCCTCTCGCTGGCATGAA	0.448													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			1	Substitution - Missense(1)	p.A731T(1)	large_intestine(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						c.(2191-2193)Gct>Act		A kinase (PRKA) anchor protein 6		G	THR/ALA	26,4380	34.3+/-65.2	0,26,2177	64	62	62		2191	2.5	1	14	dbSNP_134	62	0,8600		0,0,4300	yes	missense	AKAP6	NM_004274.4	58	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	benign	731/2320	33016050	26,12980	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33016050G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2191G>A	14.37:g.33016050G>A	ENSP00000280979:p.Ala731Thr					AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T	p.A731T	NM_004274.4	NP_004265.3	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)	4	2361	+	Breast(36;0.0388)|Prostate(35;0.15)		731					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2191G>A	CCDS9644.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.915	0.538489	0.13250	0.005901	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.30448	1.53;1.53;1.53	6.17	2.52	0.30459	.	0.572707	0.18217	N	0.148006	T	0.10423	0.0255	N	0.08118	0	0.19775	N	0.99995	B;B	0.12630	0.001;0.006	B;B	0.08055	0.001;0.003	T	0.17410	-1.0370	10	0.46703	T	0.11	-1.973	7.7743	0.29029	0.2421:0.0:0.1282:0.6297	.	731;731	A7E242;Q13023	.;AKAP6_HUMAN	T	731	ENSP00000280979:A731T;ENSP00000450531:A731T;ENSP00000451247:A731T	ENSP00000280979:A731T	A	+	1	0	AKAP6	32085801	0.997000	0.39634	0.999000	0.59377	0.103000	0.19146	1.978000	0.40598	0.193000	0.20303	-1.006000	0.02489	GCT		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		32	321	0	0	0	1	0	32	321					A	33016050	G	A	33016050	3	1	79	1	0	0	0	0	1	0	0	0	455	1087	38	1	2201	1	AKAP6	14	33016050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11228	33016050	74333490	14563	24880											
NPAS3	64067	broad.mit.edu	37	chr14	34029338	34029338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagtccctggatggCtttgtatttgcactaaatca	8	10	1	0	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000356141.4	+	5	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000346562.2_Silent_p.G128G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000341321.4_Silent_p.G160G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	160	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTGGATGGCTTTGTATTTG	0.318																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(382-384)ggC>ggT		neuronal PAS domain protein 3							78	76	77					14																	34029338		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34029338C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.480C>T	14.37:g.34029338C>T						NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000356141.4_Silent_p.G160G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000341321.4_Silent_p.G160G	p.G128G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	4	458	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		160					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.384C>T	CCDS53891.1																																																																																				0.318	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			70	279	0	0	0	1	0	70	279					T	34029338	C	T	34029338	2	4	79	1	0	0	0	0	0	0	0	1	10606	784	28	2		2	NPAS3	14	34029338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1013288	34029338	73320202	14564	24881											
NPAS3	64067	broad.mit.edu	37	chr14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactttgagaaccccaaggCgggcgaggacggcttcggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000356141.4	+	12	1625	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A510V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACCCCAAGGCGGGCGAGGAC	0.632																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1528-1530)gCg>gTg		neuronal PAS domain protein 3							56	60	58					14																	34269138		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269138C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1625C>T	14.37:g.34269138C>T	ENSP00000348460:p.Ala542Val					NPAS3_ENST00000356141.4_Missense_Mutation_p.A542V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V	p.A510V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1603	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		542					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1529C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187001	0.57909	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71698	-0.59;3.25;3.25;3.25;3.25;3.11	5.14	3.29	0.37713	.	0.261252	0.37012	N	0.002292	T	0.52075	0.1712	N	0.08118	0	0.80722	D	1	D;P;D;D	0.54601	0.967;0.944;0.967;0.967	P;B;P;P	0.46026	0.501;0.304;0.501;0.501	T	0.52895	-0.8514	10	0.46703	T	0.11	.	9.3778	0.38295	0.0:0.6552:0.2712:0.0736	.	512;542;510;529	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	516;547;510;512;542;529	ENSP00000448373:A516V;ENSP00000450392:A547V;ENSP00000319610:A510V;ENSP00000448916:A512V;ENSP00000348460:A542V;ENSP00000350446:A529V	ENSP00000319610:A510V	A	+	2	0	NPAS3	33338889	0.936000	0.31750	0.942000	0.38095	0.980000	0.70556	1.980000	0.40618	0.531000	0.28639	0.555000	0.69702	GCG		0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			53	229	0	0	0	1	0	53	229					T	34269138	C	T	34269138	3	4	79	1	0	0	0	0	1	0	0	0	10606	768	27	1	1726	1	NPAS3	14	34269138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239800	34269138	73080402	14565	24882											
NPAS3	64067	broad.mit.edu	37	chr14	34269619	34269619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggtgggggtggCggtggcggggggctgcacgt	27	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000356141.4	+	12	2106	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000346562.2_Silent_p.G670G|NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	702	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGGGGTGGCGGTGGCGGGG	0.741																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2008-2010)ggC>ggT		neuronal PAS domain protein 3							10	13	12					14																	34269619		2060	4039	6099	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269619C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2106C>T	14.37:g.34269619C>T						NPAS3_ENST00000356141.4_Silent_p.G702G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G	p.G670G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2084	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		702					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2010C>T	CCDS53891.1																																																																																				0.741	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			49	153	0	0	0	1	0	49	153					T	34269619	C	T	34269619	2	4	79	1	0	0	0	0	0	0	0	1	10606	755	27	1		1	NPAS3	14	34269619	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	34269619	73079921	14566	24883											
EAPP	55837	broad.mit.edu	37	chr14	34985588	34985588	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactgccacttcagtggaAcattcagtgcacatgactgg	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	262					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTTCAGTGGAACATTCAGTGC	0.453																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(784-786)tgT>tgC		E2F-associated phosphoprotein							206	199	202					14																	34985588		1981	4160	6141	SO:0001819	synonymous_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34985588A>G	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.786T>C	14.37:g.34985588A>G							p.C262C	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	867	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		262					Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	37	c.786T>C	CCDS41941.1																																																																																				0.453	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		64	790	0	0	0	1	0	64	790					G	34985588	A	G	34985588	2	3	79	1	0	0	0	0	0	0	0	1	4893	41	2	4		4	EAPP	14	34985588	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	715969	34985588	72363952	14567	24884											
SNX6	58533	broad.mit.edu	37	chr14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattacaacactacctttGcatgcttcagttctaactct	3	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000362031.4	-	13	1229	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	SNX6_ENST00000396526.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V|SNX6_ENST00000396534.3_Missense_Mutation_p.A272V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	388					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289																																						ENST00000396526.3																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(814-816)gCa>gTa		sorting nexin 6							72	71	72					14																	35036896		2203	4297	6500	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35036896G>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1199C>T	14.37:g.35036896G>A	ENSP00000355217:p.Ala400Val					SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000362031.4_Missense_Mutation_p.A400V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V	p.A272V			Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	12	1311	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		388					C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.815C>T	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491920	0.84962	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.9	4.0	0.46444	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.87456	2.885	0.80722	D	1	B;B	0.28291	0.114;0.206	B;B	0.30572	0.055;0.117	T	0.70163	-0.4947	10	0.87932	D	0	-14.5445	14.1526	0.65395	0.0743:0.0:0.9257:0.0	.	276;388	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	272;272;400;276	ENSP00000379779:A272V;ENSP00000379785:A272V;ENSP00000355217:A400V;ENSP00000347230:A276V	ENSP00000347230:A276V	A	-	2	0	SNX6	34106647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.763000	0.85283	1.386000	0.46466	0.557000	0.71058	GCA		0.289	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			40	181	0	0	0	1	0	40	181					A	35036896	G	A	35036896	3	1	79	1	0	0	0	0	1	0	0	0	14956	1319	46	2	65	2	SNX6	14	35036896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51308	35036896	72312644	14568	24885											
SNX6	58533	broad.mit.edu	37	chr14	35078930	35078930	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagcatcactttgaagatCtacatttattgctttaagct	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35078930C>A	ENST00000362031.4	-	3	139	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	25	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTTGAAGATCTACATTTATT	0.313																																						ENST00000362031.4																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(109-111)Gat>Tat		sorting nexin 6							85	79	81					14																	35078930		1847	4101	5948	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35078930C>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.109G>T	14.37:g.35078930C>A	ENSP00000355217:p.Asp37Tyr					SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	p.D37Y	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	3	139	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		25			PX.		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.109G>T	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756702	0.49362	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T	0.61742	2.03;0.08	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78386	-0.2224	10	0.87932	D	0	-17.3526	18.0431	0.89324	0.0:1.0:0.0:0.0	.	25	Q9UNH7	SNX6_HUMAN	Y	37;37;55	ENSP00000355217:D37Y;ENSP00000452577:D37Y	ENSP00000355217:D37Y	D	-	1	0	SNX6	34148681	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.609000	0.82925	2.432000	0.82394	0.655000	0.94253	GAT		0.313	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			8	313	1	0	1.06961e-07	1	1.11297e-07	8	313					A	35078930	C	A	35078930	3	1	79	1	0	0	0	0	1	0	0	0	14956	913	32	3	1195	3	SNX6	14	35078930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42034	35078930	72270610	14569	24886											
BAZ1A	11177	broad.mit.edu	37	chr14	35245537	35245537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtctatacatgcggtcGcgacccaagggaaagatatt	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000382422.2	-	17	2748	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_ENST00000360310.1_Silent_p.R807R|BAZ1A_ENST00000358716.4_Silent_p.R775R			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	807	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACATGCGGTCGCGACCCAAGG	0.418																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2419-2421)cgC>cgT		bromodomain adjacent to zinc finger domain, 1A							133	132	132					14																	35245537		2203	4300	6503	SO:0001819	synonymous_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245537G>A	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2421C>T	14.37:g.35245537G>A						BAZ1A_ENST00000358716.4_Silent_p.R775R|BAZ1A_ENST00000382422.2_Silent_p.R807R	p.R807R	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	2988	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		807			Interaction with SMARCA5.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	c.2421C>T	CCDS9651.1																																																																																				0.418	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			101	480	0	0	0	1	0	101	480					A	35245537	G	A	35245537	2	1	79	1	0	0	0	0	0	0	0	1	1330	1074	38	1		1	BAZ1A	14	35245537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166607	35245537	72104003	14570	24887											
SRP54	6729	broad.mit.edu	37	chr14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtatcttataggtatggGcgacattgaaggactgatag	12	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	298	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATAGGTATGGGCGACATTGAA	0.328																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(892-894)gGc>gAc		signal recognition particle 54kDa							130	130	130					14																	35483956		2203	4299	6502	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35483956G>A	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.893G>A	14.37:g.35483956G>A	ENSP00000451818:p.Gly298Asp					SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D	p.G298D			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	12	1290	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		298			M-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.893G>A	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181701	0.94885	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	9	0.87932	D	0	-6.511	20.1606	0.98132	0.0:0.0:1.0:0.0	.	249;298	B4DUW6;P61011	.;SRP54_HUMAN	D	298;298;249;234	.	ENSP00000216774:G298D	G	+	2	0	SRP54	34553707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.382000	0.97209	2.772000	0.95346	0.650000	0.86243	GGC		0.328	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		72	378	0	0	0	1	0	72	378					A	35483956	G	A	35483956	3	1	79	1	0	0	0	0	1	0	0	0	15207	1203	42	2	931	2	SRP54	14	35483956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238419	35483956	71865584	14571	24888											
KIAA0391	9692	broad.mit.edu	37	chr14	35593373	35593373	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactagatattctttcatatCtaagaaataatcagctgtat	4	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000250377.7_Silent_p.L213L|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000321130.10_Silent_p.L308L	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	308					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(922-924)Cta>Tta		KIAA0391							30	33	32					14																	35593373		2170	4274	6444	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35593373C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.922C>T	14.37:g.35593373C>T						KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.L308L	p.L308L			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	1303	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		308					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.922C>T	CCDS32063.1																																																																																				0.279	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		46	184	0	0	0	1	0	46	184					T	35593373	C	T	35593373	2	4	79	1	0	0	0	0	0	0	0	1	8202	912	32	2		2	KIAA0391	14	35593373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109417	35593373	71756167	14572	24889											
KIAA0391	9692	broad.mit.edu	37	chr14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgactgctggtcctaggcCggaagcacatgctaagacgg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	445					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1333-1335)Cgg>Tgg		KIAA0391							215	207	210					14																	35735990		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35735990C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1333C>T	14.37:g.35735990C>T	ENSP00000454657:p.Arg445Trp					KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W	p.R445W			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	6	1714	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		445					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.1333C>T	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972826	0.74246	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.58;0.51;0.52;0.83	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.88181	2.935	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-8.7734	12.7785	0.57464	0.2972:0.7028:0.0:0.0	.	429;445	O15091-2;O15091	.;MRRP3_HUMAN	W	350;350;429;445;429;73;73	ENSP00000250377:R350W;ENSP00000324697:R429W;ENSP00000440915:R445W;ENSP00000450898:R73W	ENSP00000250377:R350W	R	+	1	2	KIAA0391	34805741	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.588000	0.53964	1.369000	0.46134	0.650000	0.86243	CGG		0.478	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		136	538	0	0	0	1	0	136	538					T	35735990	C	T	35735990	3	4	79	1	0	0	0	0	1	0	0	0	8202	643	23	1	1351	1	KIAA0391	14	35735990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142617	35735990	71613550	14573	24890											
PSMA6	5687	broad.mit.edu	37	chr14	35761742	35761742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accattttttcacccgagggTcggctctaccaagtaggtga	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000553809.1_Silent_p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(58-60)ggT>ggC		proteasome (prosome, macropain) subunit, alpha type, 6							100	96	97					14																	35761742		2203	4300	6503	SO:0001819	synonymous_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761742T>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.60T>C	14.37:g.35761742T>C						KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.G20G	p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	180	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		20					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	37	c.60T>C	CCDS9655.1																																																																																				0.577	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			19	482	0	0	0	1	0	19	482					C	35761742	T	C	35761742	2	2	79	1	0	0	0	0	0	0	0	1	12718	1654	58	4		4	PSMA6	14	35761742	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25752	35761742	71587798	14574	24891											
PSMA6	5687	broad.mit.edu	37	chr14	35783581	35783581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagactgcaattacatgCctgtctactgttctatcaat	5	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Silent_p.C207C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(601-603)tgC>tgT		proteasome (prosome, macropain) subunit, alpha type, 6							60	57	58					14																	35783581		2203	4300	6503	SO:0001819	synonymous_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35783581C>T	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.603C>T	14.37:g.35783581C>T						KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000553809.1_Silent_p.C207C	p.C201C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	6	723	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		201					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	37	c.603C>T	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448254	0.04572	.	.	ENSG00000100902	ENST00000556221	.	.	.	5.55	1.72	0.24424	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-13.0287	9.2121	0.37324	0.0:0.5445:0.0:0.4555	.	.	.	.	V	40	.	.	A	+	2	0	PSMA6	34853332	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	0.247000	0.18179	0.112000	0.17975	0.650000	0.86243	GCC		0.323	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			23	147	0	0	0	1	0	23	147					T	35783581	C	T	35783581	2	4	79	1	0	0	0	0	0	0	0	1	12718	747	26	2		2	PSMA6	14	35783581	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21839	35783581	71565959	14575	24892											
NFKBIA	4792	broad.mit.edu	37	chr14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcggatcacttccatgGtcagtgccttttcttcatgg	10	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000216797.5	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	90					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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 DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CACTTCCATGGTCAGTGCCTT	0.607																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(268-270)aCc>aTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							80	67	71					14																	35872963		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35872963G>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.269C>T	14.37:g.35872963G>A	ENSP00000216797:p.Thr90Ile					NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I	p.T90I	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	2	370	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		90					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.269C>T	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739977	0.69304	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.78924	-0.01;-0.01;-1.22	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.57051	0.2027	N	0.04508	-0.205	0.80722	D	1	B;B	0.22211	0.053;0.066	B;B	0.24974	0.019;0.057	T	0.55673	-0.8104	9	0.37606	T	0.19	-17.6661	9.3287	0.38008	0.0777:0.1894:0.7329:0.0	.	90;90	G3V3I4;P25963	.;IKBA_HUMAN	I	90;90;66	ENSP00000216797:T90I;ENSP00000451257:T90I;ENSP00000451281:T66I	ENSP00000216797:T90I	T	-	2	0	NFKBIA	34942714	0.991000	0.36638	0.999000	0.59377	0.963000	0.63663	2.637000	0.46553	2.814000	0.96858	0.563000	0.77884	ACC		0.607	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		26	114	0	0	0	1	0	26	114					A	35872963	G	A	35872963	3	1	79	1	0	0	0	0	1	0	0	0	10419	1261	44	2	704	2	NFKBIA	14	35872963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89382	35872963	71476577	14576	24893											
INSM2	84684	broad.mit.edu	37	chr14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaacctggcctcccatcGccgctggcataagccgcgtc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCTCCCATCGCCGCTGGCAT	0.682																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(928-930)cGc>cAc		insulinoma-associated 2							26	30	29					14																	36004387		2203	4296	6499	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004387G>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.929G>A	14.37:g.36004387G>A	ENSP00000306523:p.Arg310His						p.R310H	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1140	+	Breast(36;0.122)|Hepatocellular(127;0.158)		310					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.929G>A	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964553	0.92791	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005812	T	0.60431	0.2268	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63571	-0.6607	10	0.62326	D	0.03	-21.8935	16.9569	0.86262	0.0:0.0:1.0:0.0	.	310	Q96T92	INSM2_HUMAN	H	310	ENSP00000306523:R310H	ENSP00000306523:R310H	R	+	2	0	INSM2	35074138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.351000	0.97073	2.269000	0.75478	0.563000	0.77884	CGC		0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			33	291	0	0	0	1	0	33	291					A	36004387	G	A	36004387	3	1	79	1	0	0	0	0	1	0	0	0	7802	1087	38	1	931	1	INSM2	14	36004387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131424	36004387	71345153	14577	24894											
INSM2	84684	broad.mit.edu	37	chr14	36004916	36004916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctacagcagatatcagggaGaagcaccggctgtggcatgc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATATCAGGGAGAAGCACCGGC	0.682																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(1456-1458)gaG>gaA		insulinoma-associated 2							28	31	30					14																	36004916		2202	4299	6501	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004916G>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1458G>A	14.37:g.36004916G>A							p.E486E	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1669	+	Breast(36;0.122)|Hepatocellular(127;0.158)		486					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.1458G>A	CCDS9657.1																																																																																				0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			59	270	0	0	0	1	0	59	270					A	36004916	G	A	36004916	2	1	79	1	0	0	0	0	0	0	0	1	7802	933	33	2		2	INSM2	14	36004916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	36004916	71344624	14578	24895											
RALGAPA1	253959	broad.mit.edu	37	chr14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattacaataaggacatcaCcaaattctgtgggaataatt	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000389698.3	-	37	6170	c.5780G>A	c.(5779-5781)gGt>gAt	p.G1927D	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1927	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)			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						AAGGACATCACCAAATTCTGT	0.348																																						ENST00000258840.6																			0				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						c.(5920-5922)gGt>gAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							109	109	109					14																	36041836		2203	4297	6500	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36041836C>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.5780G>A	14.37:g.36041836C>T	ENSP00000374348:p.Gly1927Asp					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G1927D	p.G1974D			Q6GYQ0	RGPA1_HUMAN			38	6311	-			1927			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.5921G>A	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715974|4.715974	0.89205|0.89205	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.93763|.	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.992;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.928;0.998|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.42905|.	T|.	0.14|.	-13.561|-13.561	18.6419|18.6419	0.91398|0.91398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1974;1940;1927;1927|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	D|M	1927;1927;1927;1974;565;1940;1974|210	ENSP00000374348:G1927D;ENSP00000302647:G1927D;ENSP00000258840:G1974D;ENSP00000451133:G565D;ENSP00000371803:G1940D;ENSP00000451877:G1974D|.	ENSP00000258840:G1974D|.	G|V	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35111587|35111587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.403000|2.403000	0.81681|0.81681	0.460000|0.460000	0.39030|0.39030	GGT|GTG		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		71	304	0	0	0	1	0	71	304					T	36041836	C	T	36041836	3	4	79	1	0	0	0	0	1	0	0	0	13063	507	18	2	499	2	RALGAPA1	14	36041836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36920	36041836	71307704	14579	24896											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgccatccagtcagaGtacctcctgccatcacacta	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000389698.3	-	22	3545	c.3155C>A	c.(3154-3156)aCt>aAt	p.T1052N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1052					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)			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						TCCAGTCAGAGTACCTCCTGC	0.373																																						ENST00000258840.6																			0				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						c.(3295-3297)aCt>aAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							23	23	23					14																	36143867		2203	4293	6496	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36143867G>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.3155C>A	14.37:g.36143867G>T	ENSP00000374348:p.Thr1052Asn					RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N	p.T1099N			Q6GYQ0	RGPA1_HUMAN			23	3686	-			1052					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3296C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046533	0.36085	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000002	T	0.69124	0.3076	L	0.46157	1.445	0.58432	D	0.999992	P;B;P;B	0.47545	0.897;0.047;0.763;0.104	P;B;B;B	0.47206	0.541;0.04;0.173;0.024	T	0.64757	-0.6332	10	0.09590	T	0.72	-15.642	19.0012	0.92834	0.0:0.0:1.0:0.0	.	1099;1065;1052;1052	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1052;1052;1052;1099;1065;1099	ENSP00000374348:T1052N;ENSP00000302647:T1052N;ENSP00000258840:T1099N;ENSP00000371803:T1065N;ENSP00000451877:T1099N	ENSP00000258840:T1099N	T	-	2	0	RALGAPA1	35213618	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.522000	0.73783	2.466000	0.83321	0.591000	0.81541	ACT		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		39	141	1	0	1.23103e-26	1	1.41986e-26	39	141					T	36143867	G	T	36143867	3	4	79	1	0	0	0	0	1	0	0	0	13063	1029	36	3	3184	3	RALGAPA1	14	36143867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102031	36143867	71205673	14580	24897											
RALGAPA1	253959	broad.mit.edu	37	chr14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catattggaaagcgctgaaaGaatccgaatgactatctgag	10	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000389698.3	-	19	3128	c.2738C>A	c.(2737-2739)tCt>tAt	p.S913Y	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	913					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)			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						AGCGCTGAAAGAATCCGAATG	0.433																																						ENST00000258840.6																			0				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						c.(2878-2880)tCt>tAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							47	47	47					14																	36154173		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36154173G>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.2738C>A	14.37:g.36154173G>T	ENSP00000374348:p.Ser913Tyr					RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y	p.S960Y			Q6GYQ0	RGPA1_HUMAN			20	3269	-			913					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.2879C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589901	0.86851	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95035	-3.54;-3.54;-3.59;-3.59;-3.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.996	D;D;D;D;P	0.87578	0.997;0.991;0.998;0.996;0.896	D	0.95649	0.8705	10	0.54805	T	0.06	-15.9621	20.3593	0.98849	0.0:0.0:1.0:0.0	.	960;926;960;913;913	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Y	913;913;913;960;926;960	ENSP00000374348:S913Y;ENSP00000302647:S913Y;ENSP00000258840:S960Y;ENSP00000371803:S926Y;ENSP00000451877:S960Y	ENSP00000258840:S960Y	S	-	2	0	RALGAPA1	35223924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.822000	0.97130	0.557000	0.71058	TCT		0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		21	98	1	0	1.66031e-10	1	1.76115e-10	21	98					T	36154173	G	T	36154173	3	4	79	1	0	0	0	0	1	0	0	0	13063	942	33	3	3613	3	RALGAPA1	14	36154173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	36154173	71195367	14581	24898											
BRMS1L	84312	broad.mit.edu	37	chr14	36295809	36295809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaaaatgaggggagcagCtccgaggacgaggacactga	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	29					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(85-87)agC>agT		breast cancer metastasis-suppressor 1-like							89	60	69					14																	36295809		2203	4300	6503	SO:0001819	synonymous_variant	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36295809C>T	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"breast cancer metastasis-suppressor 1"	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.87C>T	14.37:g.36295809C>T						RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	p.S29S	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	1	286	+	Breast(36;0.137)|Hepatocellular(127;0.158)		29					A6NFW5|A6NH45|B2RD65|Q9BRI4	Silent	SNP	ENST00000216807.7	37	c.87C>T	CCDS32066.1																																																																																				0.627	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		16	77	0	0	0	1	0	16	77					T	36295809	C	T	36295809	2	4	79	1	0	0	0	0	0	0	0	1	1521	796	28	2		2	BRMS1L	14	36295809	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141636	36295809	71053731	14582	24899											
NKX2-8	26257	broad.mit.edu	37	chr14	37050665	37050665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaggctgctctcgtcCgaggctagggacagcaaagg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	54					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|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)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706																																						ENST00000258829.5																			0				upper_aerodigestive_tract(1)	1						c.(160-162)tcG>tcA		NK2 homeobox 8							6	7	7					14																	37050665		1994	4134	6128	SO:0001819	synonymous_variant	26257				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:37050665C>T		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"Homeoboxes / ANTP class : NKL subclass"	16364	protein-coding gene	gene with protein product		603245	"NK-2 homolog H (Drosophila)", "NK2 transcription factor related, locus 8 (Drosophila)"	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.162G>A	14.37:g.37050665C>T							p.S54S	NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)	2	379	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		54					Q8IUT7	Silent	SNP	ENST00000258829.5	37	c.162G>A	CCDS9660.1																																																																																				0.706	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6			9	54	0	0	0	1	0	9	54					T	37050665	C	T	37050665	2	4	79	1	0	0	0	0	0	0	0	1	10496	639	23	1		1	NKX2-8	14	37050665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754856	37050665	70298875	14583	24900											
PAX9	5083	broad.mit.edu	37	chr14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcagcaagatcctggcgCgatacaacgagacgggctcg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*			P55771	PAX9_HUMAN	paired box 9	59	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	GRCh37	CM077220	PAX9	M		c.(175-177)Cga>Tga		paired box 9							45	45	45					14																	37132272		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132272C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.175C>T	14.37:g.37132272C>T	ENSP00000355245:p.Arg59*					PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*	p.R59*			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	400	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		59			Paired.		Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.175C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951174	0.99303	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.11	5.11	0.69529	.	0.054030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5219	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000355245:R59X	R	+	1	2	PAX9	36202023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.876000	0.63079	2.383000	0.81215	0.561000	0.74099	CGA		0.642	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			38	305	0	0	0	1	0	38	305					T	37132272	C	T	37132272	4	4	79	1	0	0	0	0	0	1	0	0	11528	760	27	1	181	1	PAX9	14	37132272	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81607	37132272	70217268	14584	24901											
PAX9	5083	broad.mit.edu	37	chr14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccctcctcgcactccGtcaccgacatcctgggcatc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I			P55771	PAX9_HUMAN	paired box 9	198					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(592-594)Gtc>Atc		paired box 9							31	32	32					14																	37132689		2202	4297	6499	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132689G>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.592G>A	14.37:g.37132689G>A	ENSP00000355245:p.Val198Ile					PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I	p.V198I			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	817	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		198					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.592G>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561606	0.86335	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.99353	-5.77;-5.77;0.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99683	1.0999	10	0.37606	T	0.19	.	18.8295	0.92132	0.0:0.0:1.0:0.0	.	198	P55771	PAX9_HUMAN	I	198;198;11	ENSP00000384817:V198I;ENSP00000355245:V198I;ENSP00000450434:V11I	ENSP00000355245:V198I	V	+	1	0	PAX9	36202440	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.861000	0.99562	2.445000	0.82738	0.561000	0.74099	GTC		0.716	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			84	341	0	0	0	1	0	84	341					A	37132689	G	A	37132689	3	1	79	1	0	0	0	0	1	0	0	0	11528	1145	40	1	598	1	PAX9	14	37132689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	37132689	70216851	14585	24902											
SLC25A21	89874	broad.mit.edu	37	chr14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctgttagtccagatcCcaatccagcaatggcgaatg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	118					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(352-354)Gga>Aga		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							94	89	91					14																	37194861		2203	4300	6503	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194861C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.352G>A	14.37:g.37194861C>T	ENSP00000329452:p.Gly118Arg					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	867	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		118					A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.352G>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440300	0.63067	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95004	3.61	0.80722	D	1	D	0.58620	0.983	D	0.66497	0.944	D	0.90820	0.4708	10	0.31617	T	0.26	-10.3573	19.3129	0.94198	0.0:1.0:0.0:0.0	.	118	Q9BQT8	ODC_HUMAN	R	118	ENSP00000451873:G118R;ENSP00000329452:G118R	ENSP00000329452:G118R	G	-	1	0	SLC25A21	36264612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GGA		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		59	244	0	0	0	1	0	59	244					T	37194861	C	T	37194861	3	4	79	1	0	0	0	0	1	0	0	0	14534	632	22	2	572	2	SLC25A21	14	37194861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62172	37194861	70154679	14586	24903											
MIPOL1	145282	broad.mit.edu	37	chr14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttctaaaagaattggAtattctcagaacaagcaata	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000327441.7	+	6	828	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000539174.2_3'UTR	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	121						nucleus (GO:0005634)				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)		AAAGAATTGGATATTCTCAGA	0.313																																						ENST00000327441.7																			0				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						c.(361-363)gAt>gGt		mirror-image polydactyly 1							83	88	86					14																	37737973		2201	4288	6489	SO:0001583	missense	145282							g.chr14:37737973A>G	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.362A>G	14.37:g.37737973A>G	ENSP00000333539:p.Asp121Gly					MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G	p.D121G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	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)	6	828	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		121					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.362A>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442142	0.83993	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56776	0.48;0.48;0.44;0.48;0.48;0.44	5.51	5.51	0.81932	.	0.243144	0.39146	N	0.001447	T	0.58935	0.2157	L	0.48642	1.525	0.80722	D	1	P;P	0.51449	0.57;0.945	B;P	0.52909	0.364;0.713	T	0.60146	-0.7320	10	0.49607	T	0.09	-2.1235	15.2974	0.73919	1.0:0.0:0.0:0.0	.	121;90	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	121;90;90;121;121;121;90	ENSP00000333539:D121G;ENSP00000438319:D90G;ENSP00000450479:D90G;ENSP00000379589:D121G;ENSP00000444254:D121G;ENSP00000442529:D90G	ENSP00000333539:D121G	D	+	2	0	MIPOL1	36807724	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.720000	0.68470	2.084000	0.62774	0.482000	0.46254	GAT		0.313	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		36	394	0	0	0	1	0	36	394					G	37737973	A	G	37737973	3	3	79	1	0	0	0	0	1	0	0	0	9634	333	12	4	372	4	MIPOL1	14	37737973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	543112	37737973	69611567	14587	24904											
MIPOL1	145282	broad.mit.edu	37	chr14	38016120	38016120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacttaggttggaaaggCtggtggatgtactgaggaag	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000539062.2_Silent_p.L394L	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	425						nucleus (GO:0005634)				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)		GTTGGAAAGGCTGGTGGATGT	0.473																																						ENST00000327441.7																			0				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						c.(1273-1275)Ctg>Ttg		mirror-image polydactyly 1							111	102	105					14																	38016120		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:38016120C>T	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.1273C>T	14.37:g.38016120C>T						MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000396294.2_Silent_p.L425L	p.L425L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	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)	14	1739	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		425					D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.1273C>T	CCDS9664.1																																																																																				0.473	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		21	115	0	0	0	1	0	21	115					T	38016120	C	T	38016120	2	4	79	1	0	0	0	0	0	0	0	1	9634	796	28	2		2	MIPOL1	14	38016120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278147	38016120	69333420	14588	24905											
FOXA1	3169	broad.mit.edu	37	chr14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccgctcgtagtcatgGtgttcatggtcatgtaggtg	14	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	52					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(154-156)aCc>aTc		forkhead box A1							173	151	159					14																	38061834		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	g.chr14:38061834G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.155C>T	14.37:g.38061834G>A	ENSP00000250448:p.Thr52Ile					FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I|FOXA1_ENST00000545425.2_5'UTR	p.T52I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	216	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		52					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.155C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949068	0.53186	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.164010	0.06577	N	0.749592	T	0.22166	0.0534	N	0.22421	0.69	0.45946	D	0.998773	P	0.37914	0.611	B	0.39617	0.305	T	0.15321	-1.0441	10	0.66056	D	0.02	.	16.2573	0.82524	0.0:0.0:1.0:0.0	.	52	P55317	FOXA1_HUMAN	I	52;19	ENSP00000250448:T52I;ENSP00000440178:T19I	ENSP00000250448:T52I	T	-	2	0	FOXA1	37131585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.830000	0.55768	2.135000	0.66039	0.561000	0.74099	ACC		0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			101	465	0	0	0	1	0	101	465					A	38061834	G	A	38061834	3	1	79	1	0	0	0	0	1	0	0	0	6014	1261	44	2	1267	2	FOXA1	14	38061834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45714	38061834	69287706	14589	24906											
SSTR1	6751	broad.mit.edu	37	chr14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgttgttgcgccactGgcccttcggtgcgctgctct	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	123					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TTGCGCCACTGGCCCTTCGGT	0.587																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(367-369)tGg>tAg		somatostatin receptor 1	Octreotide(DB00104)						190	172	178					14																	38678962		2203	4300	6503	SO:0001587	stop_gained	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678962G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.368G>A	14.37:g.38678962G>A	ENSP00000267377:p.Trp123*						p.W123*	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	985	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		123						Nonsense_Mutation	SNP	ENST00000267377.2	37	c.368G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	42	9.702552	0.99242	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000267377:W123X	W	+	2	0	SSTR1	37748713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.623000	0.98386	2.583000	0.87209	0.655000	0.94253	TGG		0.587	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			203	874	0	0	0	1	0	203	874					A	38678962	G	A	38678962	4	1	79	1	0	0	0	0	0	1	0	0	15249	1357	47	2	370	2	SSTR1	14	38678962	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617128	38678962	68670578	14590	24907											
SSTR1	6751	broad.mit.edu	37	chr14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccaaggtagtaaaccTgggcgtgtgggtgctatcgc	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTAGTAAACCTGGGCGTGTGG	0.642																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(535-537)cTg>cCg		somatostatin receptor 1	Octreotide(DB00104)						78	77	77					14																	38679130		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679130T>C		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.536T>C	14.37:g.38679130T>C	ENSP00000267377:p.Leu179Pro						p.L179P	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1153	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		179						Missense_Mutation	SNP	ENST00000267377.2	37	c.536T>C	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370844	0.61624	.	.	ENSG00000139874	ENST00000267377	T	0.42513	0.97	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000320	T	0.61299	0.2336	M	0.78344	2.41	0.80722	D	1	D	0.54207	0.965	P	0.60886	0.88	T	0.64449	-0.6405	10	0.48119	T	0.1	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	179	P30872	SSR1_HUMAN	P	179	ENSP00000267377:L179P	ENSP00000267377:L179P	L	+	2	0	SSTR1	37748881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	2.034000	0.60081	0.459000	0.35465	CTG		0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			73	299	0	0	0	1	0	73	299					C	38679130	T	C	38679130	3	2	79	1	0	0	0	0	1	0	0	0	15249	1580	55	4	538	4	SSTR1	14	38679130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	38679130	68670410	14591	24908											
CLEC14A	161198	broad.mit.edu	37	chr14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctctgcggcacggggCtggttgcagtggccggcggg	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	312						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)		CGGCACGGGGCTGGTTGCAGT	0.627																																						ENST00000342213.2																			0				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						c.(934-936)aGc>aAc		C-type lectin domain family 14, member A							61	64	63					14																	38724293		2203	4299	6502	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724293C>T		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.935G>A	14.37:g.38724293C>T	ENSP00000353013:p.Ser312Asn						p.S312N	NM_175060.2	NP_778230.1	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	1281	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		312					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.935G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275745	0.40294	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75050	-0.9	3.86	2.96	0.34315	.	.	.	.	.	T	0.64271	0.2583	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.55153	-0.8185	9	0.49607	T	0.09	-6.6257	9.6415	0.39842	0.0:0.7883:0.2117:0.0	.	312	Q86T13	CLC14_HUMAN	N	312;77	ENSP00000353013:S312N	ENSP00000353013:S312N	S	-	2	0	CLEC14A	37794044	0.479000	0.25925	0.039000	0.18376	0.008000	0.06430	-0.026000	0.12392	1.192000	0.43071	0.655000	0.94253	AGC		0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		138	647	0	0	0	1	0	138	647					T	38724293	C	T	38724293	3	4	79	1	0	0	0	0	1	0	0	0	3508	797	28	2	541	2	CLEC14A	14	38724293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45163	38724293	68625247	14592	24909											
CLEC14A	161198	broad.mit.edu	37	chr14	38724491	38724491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggaggtacctcccggggCagggacacaacacatcgccc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724491C>T	ENST00000342213.2	-	1	1083	c.737G>A	c.(736-738)tGc>tAc	p.C246Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	246	EGF-like.					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)		CCTCCCGGGGCAGGGACACAA	0.617																																						ENST00000342213.2																			0				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						c.(736-738)tGc>tAc		C-type lectin domain family 14, member A							116	126	122					14																	38724491		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724491C>T		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.737G>A	14.37:g.38724491C>T	ENSP00000353013:p.Cys246Tyr						p.C246Y	NM_175060.2	NP_778230.1	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	1083	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		246			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.737G>A	CCDS9667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055092|3.055092	0.55325|0.55325	.|.	.|.	ENSG00000176435|ENSG00000176435	ENST00000546356|ENST00000342213	.|T	.|0.75154	.|-0.91	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Epidermal growth factor-like (1);	.|0.191682	.|0.33364	.|N	.|0.004986	.|T	.|0.78020	.|0.4218	L|L	0.32530|0.32530	0.975|0.975	0.39374|0.39374	D|D	0.966133|0.966133	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|T	.|0.80039	.|-0.1549	.|10	.|0.66056	.|D	.|0.02	.|-11.2729	11.6305|11.6305	0.51171|0.51171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|Q86T13	.|CLC14_HUMAN	.|Y	-1|246	.|ENSP00000353013:C246Y	.|ENSP00000353013:C246Y	.|C	-|-	.|2	.|0	CLEC14A|CLEC14A	37794242|37794242	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.650000|0.650000	0.38633|0.38633	2.605000|2.605000	0.46283|0.46283	2.480000|2.480000	0.83734|0.83734	0.491000|0.491000	0.48974|0.48974	.|TGC		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		20	1461	0	0	0	1	0	20	1461					T	38724491	C	T	38724491	3	4	79	1	0	0	0	0	1	0	0	0	3508	710	25	2	739	2	CLEC14A	14	38724491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	38724491	68625049	14593	24910											
CLEC14A	161198	broad.mit.edu	37	chr14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgagagtttgtcccagCgagcgccgatttcgtccgcg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	234						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)		TTTGTCCCAGCGAGCGCCGAT	0.627																																						ENST00000342213.2																			0				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						c.(700-702)cGc>cAc		C-type lectin domain family 14, member A							109	118	115					14																	38724527		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724527C>T		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.701G>A	14.37:g.38724527C>T	ENSP00000353013:p.Arg234His						p.R234H	NM_175060.2	NP_778230.1	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	1047	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		234					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.701G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984154	0.02180	.	.	ENSG00000176435	ENST00000342213	T	0.74632	-0.86	4.02	-3.59	0.04583	.	.	.	.	.	T	0.46795	0.1411	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35968	-0.9767	9	0.09338	T	0.73	-5.413	7.5425	0.27746	0.0:0.2669:0.1305:0.6025	.	234	Q86T13	CLC14_HUMAN	H	234	ENSP00000353013:R234H	ENSP00000353013:R234H	R	-	2	0	CLEC14A	37794278	0.072000	0.21174	0.026000	0.17262	0.011000	0.07611	-0.732000	0.04904	-0.835000	0.04234	-0.216000	0.12614	CGC		0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		304	1115	0	0	0	1	0	304	1115					T	38724527	C	T	38724527	3	4	79	1	0	0	0	0	1	0	0	0	3508	768	27	1	775	1	CLEC14A	14	38724527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	38724527	68625013	14594	24911											
CLEC14A	161198	broad.mit.edu	37	chr14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagctggaagggcgcgCgatagctcaagttagaggcg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						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)		GAAGGGCGCGCGATAGCTCAA	0.647																																						ENST00000342213.2																			0				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						c.(577-579)cGc>cAc		C-type lectin domain family 14, member A							40	41	41					14																	38724650		2197	4288	6485	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724650C>T		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.578G>A	14.37:g.38724650C>T	ENSP00000353013:p.Arg193His						p.R193H	NM_175060.2	NP_778230.1	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	924	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		193					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.578G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531589	0.64972	.	.	ENSG00000176435	ENST00000342213	T	0.74526	-0.85	4.13	1.2	0.21068	.	0.742908	0.11393	N	0.568573	T	0.55081	0.1898	N	0.24115	0.695	0.27874	N	0.939923	B	0.28082	0.2	B	0.21917	0.037	T	0.47935	-0.9078	10	0.51188	T	0.08	-3.0414	4.3188	0.11007	0.181:0.6143:0.0:0.2047	.	193	Q86T13	CLC14_HUMAN	H	193	ENSP00000353013:R193H	ENSP00000353013:R193H	R	-	2	0	CLEC14A	37794401	0.009000	0.17119	0.980000	0.43619	0.982000	0.71751	-0.147000	0.10234	0.268000	0.21939	0.591000	0.81541	CGC		0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		126	493	0	0	0	1	0	126	493					T	38724650	C	T	38724650	3	4	79	1	0	0	0	0	1	0	0	0	3508	768	27	1	898	1	CLEC14A	14	38724650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	38724650	68624890	14595	24912											
CLEC14A	161198	broad.mit.edu	37	chr14	38724747	38724747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcgcgcaggtggcatcGcatctccttccagcctgcgg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724747G>A	ENST00000342213.2	-	1	827	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					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)		AGGTGGCATCGCATCTCCTTC	0.682																																						ENST00000342213.2																			0				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						c.(481-483)Cga>Tga		C-type lectin domain family 14, member A							41	37	39					14																	38724747		2199	4293	6492	SO:0001587	stop_gained	161198					integral to membrane	sugar binding	g.chr14:38724747G>A		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.481C>T	14.37:g.38724747G>A	ENSP00000353013:p.Arg161*						p.R161*	NM_175060.2	NP_778230.1	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	827	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		161			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	ENST00000342213.2	37	c.481C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	39	7.498348	0.98322	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	.	0.665335	0.12618	N	0.453257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4128	10.4834	0.44706	0.0:0.0:0.7906:0.2093	.	.	.	.	X	161	.	ENSP00000353013:R161X	R	-	1	2	CLEC14A	37794498	0.021000	0.18746	0.874000	0.34290	0.844000	0.47949	0.324000	0.19610	1.194000	0.43101	0.591000	0.81541	CGA		0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		8	332	0	0	0	1	0	8	332					A	38724747	G	A	38724747	4	1	79	1	0	0	0	0	0	1	0	0	3508	1095	38	1	995	1	CLEC14A	14	38724747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	38724747	68624793	14596	24913											
SEC23A	10484	broad.mit.edu	37	chr14	39510075	39510075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctggtatcctgacttcCgccactgtgctatggtctaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	ENST00000307712.6	-	18	2520	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SEC23A_ENST00000537403.1_Missense_Mutation_p.R466Q|SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	668					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCTGACTTCCGCCACTGTGC	0.373																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1396-1398)cGg>cAg		Sec23 homolog A (S. cerevisiae)							60	54	56					14																	39510075		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39510075C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2003G>A	14.37:g.39510075C>T	ENSP00000306881:p.Arg668Gln					SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000307712.6_Missense_Mutation_p.R668Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q	p.R466Q			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	14	2599	-	Hepatocellular(127;0.213)		668					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1397G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012533	0.75161	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	H	0.94462	3.54	0.80722	D	1	B;B;B	0.26147	0.143;0.105;0.078	B;B;B	0.27380	0.065;0.077;0.079	T	0.69950	-0.5006	10	0.66056	D	0.02	-14.0486	13.1859	0.59680	0.0:0.9274:0.0:0.0726	.	639;566;668	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	Q	466;668;566;639	ENSP00000444193:R466Q;ENSP00000306881:R668Q;ENSP00000437715:R566Q;ENSP00000445393:R639Q	ENSP00000306881:R668Q	R	-	2	0	SEC23A	38579826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.846000	0.62860	2.719000	0.93026	0.655000	0.94253	CGG		0.373	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			51	157	0	0	0	1	0	51	157					T	39510075	C	T	39510075	3	4	79	1	0	0	0	0	1	0	0	0	14041	652	23	1	306	1	SEC23A	14	39510075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785328	39510075	67839465	14597	24914											
SIP1	8487	broad.mit.edu	37	chr14	39587259	39587259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacacttcaatggcaacaGcaacaagtggcacagttttc	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39587259G>A	ENST00000308317.6	+	3	395	c.312G>A	c.(310-312)caG>caA	p.Q104Q	GEMIN2_ENST00000250379.8_Silent_p.Q104Q|GEMIN2_ENST00000396249.2_Silent_p.Q104Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	104	Poly-Gln.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											AATGGCAACAGCAACAAGTGG	0.408																																						ENST00000308317.6																			0											c.(310-312)caG>caA		gem (nuclear organelle) associated protein 2							68	65	66					14																	39587259		2203	4300	6503	SO:0001819	synonymous_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39587259G>A	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"survival of motor neuron protein interacting protein 1"	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.312G>A	14.37:g.39587259G>A						GEMIN2_ENST00000250379.8_Silent_p.Q104Q|GEMIN2_ENST00000396249.2_Silent_p.Q104Q	p.Q104Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			3	395	+			104			Poly-Gln.		B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Silent	SNP	ENST00000308317.6	37	c.312G>A	CCDS9669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.217|9.217	1.032459|1.032459	0.19590|0.19590	.|.	.|.	ENSG00000092208|ENSG00000092208	ENST00000534684|ENST00000527381	.|.	.|.	.|.	6.03|6.03	1.83|1.83	0.25207|0.25207	.|.	.|.	.|.	.|.	.|.	T|T	0.57902|0.57902	0.2085|0.2085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51028|0.51028	-0.8757|-0.8757	4|4	.|.	.|.	.|.	-10.9514|-10.9514	9.2489|9.2489	0.37543|0.37543	0.4772:0.0:0.5228:0.0|0.4772:0.0:0.5228:0.0	.|.	.|.	.|.	.|.	T|N	99|93	.|.	.|.	A|S	+|+	1|2	0|0	GEMIN2|GEMIN2	38657010|38657010	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.338000|0.338000	0.19858|0.19858	0.339000|0.339000	0.23719|0.23719	-0.365000|-0.365000	0.07479|0.07479	GCA|AGC		0.408	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2			28	143	0	0	0	1	0	28	143					A	39587259	G	A	39587259	2	1	79	1	0	0	0	0	0	0	0	1	14377	962	34	2		2	SIP1	14	39587259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77184	39587259	67762281	14598	24915											
PNN	5411	broad.mit.edu	37	chr14	39650344	39650344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgtggctcaacctcaGcctcagtctcagccccagct	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	477	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTcaacctcagcctcagtctc	0.502																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1429-1431)caG>caA		pinin, desmosome associated protein							42	44	44					14																	39650344		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650344G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1431G>A	14.37:g.39650344G>A						PNN_ENST00000557680.1_Intron	p.Q477Q	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1498	+	Hepatocellular(127;0.213)		477			Gln-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1431G>A	CCDS9671.1																																																																																				0.502	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		59	246	0	0	0	1	0	59	246					A	39650344	G	A	39650344	2	1	79	1	0	0	0	0	0	0	0	1	12202	962	34	2		2	PNN	14	39650344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63085	39650344	67699196	14599	24916											
PNN	5411	broad.mit.edu	37	chr14	39650731	39650731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagtagcagtcgcagtagTtccagtagcagctccagtac	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	ENST00000216832.4	+	9	1885	c.1818T>C	c.(1816-1818)agT>agC	p.S606S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	606	Necessary for interaction with PPIG.|Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		gtcgcagtagttccagtagca	0.512																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1816-1818)agT>agC		pinin, desmosome associated protein							64	56	59					14																	39650731		2200	4299	6499	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650731T>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1818T>C	14.37:g.39650731T>C						PNN_ENST00000557680.1_Intron	p.S606S	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1885	+	Hepatocellular(127;0.213)		606			Necessary for interaction with PPIG.|Ser-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1818T>C	CCDS9671.1																																																																																				0.512	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		11	73	0	0	0	1	0	11	73					C	39650731	T	C	39650731	2	2	79	1	0	0	0	0	0	0	0	1	12202	1722	60	4		4	PNN	14	39650731	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387	39650731	67698809	14600	24917											
MIA2	117153	broad.mit.edu	37	chr14	39706205	39706205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacttcactaagggagaagaGatatctgtttatgttaaact	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	ENST00000280082.3	+	2	394	c.195G>T	c.(193-195)gaG>gaT	p.E65D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	65	SH3.				cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGGGAGAAGAGATATCTGTTT	0.363																																						ENST00000553728.1																			0											c.(193-195)gaG>gaT									87	82	84					14																	39706205		2203	4300	6503	SO:0001583	missense	0							g.chr14:39706205G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.195G>T	14.37:g.39706205G>T	ENSP00000280082:p.Glu65Asp					MIA2_ENST00000280082.3_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	p.E65D							2	408	+								A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.195G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799117	0.70567	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.26	2.41	0.29592	.	0.000000	0.38548	N	0.001651	T	0.81029	0.4738	L	0.39898	1.24	0.31873	N	0.61949	D	0.89917	1.0	D	0.77004	0.989	T	0.77536	-0.2551	9	.	.	.	-13.5182	4.4414	0.11575	0.3:0.0:0.5536:0.1464	.	65	Q96PC5-2	.	D	65	ENSP00000451883:E65D;ENSP00000451217:E65D;ENSP00000280082:E65D;ENSP00000451934:E65D;ENSP00000452252:E65D	.	E	+	3	2	MIA2;RP11-407N17.3	38775956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.223000	0.20920	0.655000	0.94253	GAG		0.363	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		33	176	1	0	1.22384e-17	1	1.35282e-17	33	176					T	39706205	G	T	39706205	3	4	79	1	0	0	0	0	1	0	0	0	9605	933	33	3	201	3	MIA2	14	39706205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55474	39706205	67643335	14601	24918											
CTAGE5	4253	broad.mit.edu	37	chr14	39790133	39790133	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgttttaattattccagaGcattccccatatggtccctc	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39790133G>T	ENST00000280083.3	+	19	1859	c.1545G>T	c.(1543-1545)gaG>gaT	p.E515D	RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E486D|CTAGE5_ENST00000341502.5_Splice_Site_p.E515D|CTAGE5_ENST00000396165.4_Splice_Site_p.E486D|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000341749.3_Splice_Site_p.E503D|CTAGE5_ENST00000557038.1_Splice_Site_p.E435D|RP11-407N17.3_ENST00000553728.1_Splice_Site_p.E1050D|CTAGE5_ENST00000396158.2_Splice_Site_p.E520D|CTAGE5_ENST00000556148.1_Splice_Site_p.E440D|CTAGE5_ENST00000553352.1_Splice_Site_p.E486D			O15320	CTGE5_HUMAN	CTAGE family, member 5	515	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTATTCCAGAGCATTCCCCAT	0.413																																						ENST00000553728.1																			0											c.e23-1									127	134	131					14																	39790133		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr14:39790133G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1544-1G>T	14.37:g.39790133G>T						CTAGE5_ENST00000396165.4_Splice_Site_p.E486_splice|CTAGE5_ENST00000553352.1_Splice_Site_p.E486_splice|RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E486_splice|CTAGE5_ENST00000341502.5_Splice_Site_p.E515_splice|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000556148.1_Splice_Site_p.E440_splice|CTAGE5_ENST00000341749.3_Splice_Site_p.E503_splice|CTAGE5_ENST00000280083.3_Splice_Site_p.E515_splice|CTAGE5_ENST00000557038.1_Splice_Site_p.E435_splice|CTAGE5_ENST00000396158.2_Splice_Site_p.E520_splice	p.E1050_splice							23	3363	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Splice_Site	SNP	ENST00000280083.3	37	c.3148_splice	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087452	0.55968	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.95	3.08	0.35506	.	0.000000	0.34133	N	0.004227	T	0.55130	0.1901	M	0.68593	2.085	0.38230	D	0.941008	D;P;P;P	0.54601	0.967;0.897;0.897;0.897	D;P;P;P	0.63113	0.911;0.779;0.779;0.831	T	0.55522	-0.8128	9	.	.	.	.	8.6454	0.34003	0.3044:0.0:0.6956:0.0	.	477;520;515;503	F8W9E1;O15320-5;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	D	1050;503;435;477;486;515;520;515;440;486	ENSP00000452252:E1050D;ENSP00000343897:E503D;ENSP00000450869:E435D;ENSP00000379468:E486D;ENSP00000339286:E515D;ENSP00000379462:E520D;ENSP00000280083:E515D;ENSP00000452562:E440D;ENSP00000450449:E486D	.	E	+	3	2	CTAGE5;RP11-407N17.3	38859884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.961000	0.40432	0.381000	0.24851	-0.150000	0.13652	GAG		0.413	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	Missense_Mutation	13	549	1	0	3.27435e-08	1	3.41456e-08	13	549					T	39790133	G	T	39790133	5	4	79	1	0	0	0	0	0	0	1	0	4005	985	34	3	1650	3	CTAGE5	14	39790133	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83928	39790133	67559407	14602	24919											
LRFN5	145581	broad.mit.edu	37	chr14	42356113	42356113	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttattacacctcatgctttCgctgacctacgaaatttgag	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000298119.4	+	3	1474	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554171.1_Silent_p.F95F|LRFN5_ENST00000554120.1_Silent_p.F95F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(283-285)ttC>ttT		leucine rich repeat and fibronectin type III domain containing 5							56	57	57					14																	42356113		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356113C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.285C>T	14.37:g.42356113C>T		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F	p.F95F			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2717	+			95					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.285C>T	CCDS9678.1																																																																																				0.348	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		39	247	0	0	0	1	0	39	247					T	42356113	C	T	42356113	2	4	79	1	0	0	0	0	0	0	0	1	8979	883	31	1		1	LRFN5	14	42356113	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2565980	42356113	64993427	14603	24920											
LRFN5	145581	broad.mit.edu	37	chr14	42356347	42356347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagaagatggttagcttGcatacccttagtttggatca	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000298119.4	+	3	1708	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000554171.1_Silent_p.L173L|LRFN5_ENST00000554120.1_Silent_p.L173L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(517-519)ttG>ttA		leucine rich repeat and fibronectin type III domain containing 5							85	71	76					14																	42356347		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356347G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.519G>A	14.37:g.42356347G>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.L173L|LRFN5_ENST00000298119.4_Silent_p.L173L	p.L173L			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2951	+			173					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.519G>A	CCDS9678.1																																																																																				0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		43	175	0	0	0	1	0	43	175					A	42356347	G	A	42356347	2	1	79	1	0	0	0	0	0	0	0	1	8979	1310	46	2		2	LRFN5	14	42356347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	42356347	64993193	14604	24921											
LRFN5	145581	broad.mit.edu	37	chr14	42356731	42356731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgagagtcctggagggAcaaagggcaacactgaggtg	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000298119.4	+	3	2092	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000554171.1_Silent_p.G301G|LRFN5_ENST00000554120.1_Silent_p.G301G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(901-903)ggA>ggG		leucine rich repeat and fibronectin type III domain containing 5							111	106	107					14																	42356731		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356731A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.903A>G	14.37:g.42356731A>G		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.G301G|LRFN5_ENST00000298119.4_Silent_p.G301G	p.G301G			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3335	+			301			Ig-like.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.903A>G	CCDS9678.1																																																																																				0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		104	416	0	0	0	1	0	104	416					G	42356731	A	G	42356731	2	3	79	1	0	0	0	0	0	0	0	1	8979	262	10	4		4	LRFN5	14	42356731	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	384	42356731	64992809	14605	24922											
LRFN5	145581	broad.mit.edu	37	chr14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatctggctgctggaactAtgtatgacttgtgtgtcttg	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1441-1443)Atg>Gtg		leucine rich repeat and fibronectin type III domain containing 5							177	143	154					14																	42360508		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360508A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1441A>G	14.37:g.42360508A>G	ENSP00000298119:p.Met481Val	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.M481V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2630	+			481			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1441A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.305	0.613840	0.14066	.	.	ENSG00000165379	ENST00000298119	T	0.67345	-0.26	5.88	3.54	0.40534	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.44808	0.1311	N	0.22421	0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.33940	T	0.23	.	2.5238	0.04686	0.5668:0.0:0.2343:0.1989	.	481	Q96NI6	LRFN5_HUMAN	V	481	ENSP00000298119:M481V	ENSP00000298119:M481V	M	+	1	0	LRFN5	41430258	0.604000	0.26932	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.045000	0.40225	0.528000	0.53228	ATG		0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		149	618	0	0	0	1	0	149	618					G	42360508	A	G	42360508	3	3	79	1	0	0	0	0	1	0	0	0	8979	449	16	4	1447	4	LRFN5	14	42360508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3777	42360508	64989032	14606	24923											
LRFN5	145581	broad.mit.edu	37	chr14	42360546	42360546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccatatatgatgatggCatcacttccctcactgccac	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	493	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1477-1479)ggC>ggT		leucine rich repeat and fibronectin type III domain containing 5							210	176	187					14																	42360546		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360546C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1479C>T	14.37:g.42360546C>T		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.G493G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2668	+			493			Fibronectin type-III.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1479C>T	CCDS9678.1																																																																																				0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		177	731	0	0	0	1	0	177	731					T	42360546	C	T	42360546	2	4	79	1	0	0	0	0	0	0	0	1	8979	697	25	2		2	LRFN5	14	42360546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	42360546	64988994	14607	24924											
FSCB	84075	broad.mit.edu	37	chr14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattggtattagacaaatCtttaaggacagaattgattt	7	4	2	3	rs75354082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	796						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTAGACAAATCTTTAAGGACA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18052	0.001		0.0	False		,,,				2504	0.0					ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2386-2388)Gat>Aat		fibrous sheath CABYR binding protein							73	79	77					14																	44973805		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44973805C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2386G>A	14.37:g.44973805C>T	ENSP00000344579:p.Asp796Asn						p.D796N	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2677	-			796					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2386G>A	CCDS9679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.86	2.662331	0.47572	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	3.52	0.672	0.17935	.	.	.	.	.	T	0.18130	0.0435	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.12889	-1.0530	9	0.44086	T	0.13	-6.0457	7.0159	0.24887	0.0:0.6676:0.0:0.3324	.	796	Q5H9T9	FSCB_HUMAN	N	796;689	ENSP00000344579:D796N	ENSP00000344579:D796N	D	-	1	0	FSCB	44043555	0.988000	0.35896	0.003000	0.11579	0.079000	0.17450	0.299000	0.19138	0.134000	0.18681	0.484000	0.47621	GAT		0.383	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		85	440	0	0	0	1	0	85	440					T	44973805	C	T	44973805	3	4	79	1	0	0	0	0	1	0	0	0	6093	913	32	2	95	2	FSCB	14	44973805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2613259	44973805	62375735	14608	24925											
FSCB	84075	broad.mit.edu	37	chr14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtctcctcagctggtagaGactgaacttcagcaggggcc	13	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	684						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGGTAGAGACTGAACTTC	0.592																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2050-2052)tCt>tAt		fibrous sheath CABYR binding protein							32	39	37					14																	44974140		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44974140G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2051C>A	14.37:g.44974140G>T	ENSP00000344579:p.Ser684Tyr						p.S684Y	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2342	-			684					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2051C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296614	0.23650	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15017	2.46	4.69	0.56	0.17279	.	.	.	.	.	T	0.20780	0.0500	L	0.53249	1.67	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.11792	-1.0573	9	0.59425	D	0.04	1.4952	4.7706	0.13153	0.1696:0.0:0.5315:0.2988	.	684	Q5H9T9	FSCB_HUMAN	Y	684;577	ENSP00000344579:S684Y	ENSP00000344579:S684Y	S	-	2	0	FSCB	44043890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.068000	0.14531	0.009000	0.14813	-0.362000	0.07510	TCT		0.592	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		9	184	1	0	5.4927e-09	1	5.7613e-09	9	184					T	44974140	G	T	44974140	3	4	79	1	0	0	0	0	1	0	0	0	6093	942	33	3	430	3	FSCB	14	44974140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	44974140	62375400	14609	24926											
FSCB	84075	broad.mit.edu	37	chr14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggaggctctactttagCtggggcctcttcaagggcgc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	410	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTTTAGCTGGGGCCTCT	0.512																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1228-1230)Gct>Act		fibrous sheath CABYR binding protein							38	42	41					14																	44974963		2197	4296	6493	SO:0001583	missense	84075					cilium		g.chr14:44974963C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1228G>A	14.37:g.44974963C>T	ENSP00000344579:p.Ala410Thr						p.A410T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1519	-			410			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1228G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709338	0.30322	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13420	2.59	4.49	-2.33	0.06724	.	.	.	.	.	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.22880	0.042	T	0.43877	-0.9364	9	0.14656	T	0.56	-0.4729	2.0042	0.03474	0.1257:0.4363:0.1229:0.3152	.	410	Q5H9T9	FSCB_HUMAN	T	410	ENSP00000344579:A410T	ENSP00000344579:A410T	A	-	1	0	FSCB	44044713	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.358000	0.02604	-0.620000	0.05641	0.655000	0.94253	GCT		0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		45	263	0	0	0	1	0	45	263					T	44974963	C	T	44974963	3	4	79	1	0	0	0	0	1	0	0	0	6093	797	28	2	1253	2	FSCB	14	44974963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	823	44974963	62374577	14610	24927											
FSCB	84075	broad.mit.edu	37	chr14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcaggtctgggctccGctttagcagtggcctcttca	11	13	4	0	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	ENST00000340446.4	-	1	1133	c.842C>T	c.(841-843)gCg>gTg	p.A281V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTGGGCTCCGCTTTAGCAGT	0.483													G|||	5	0.000998403	0.003	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(841-843)gCg>gTg		fibrous sheath CABYR binding protein		G	VAL/ALA	11,4395	17.9+/-39.9	0,11,2192	55	57	56		842	-7.7	0	14	dbSNP_134	56	30,8570	20.4+/-63.3	1,28,4271	yes	missense	FSCB	NM_032135.3	64	1,39,6463	AA,AG,GG		0.3488,0.2497,0.3152	benign	281/826	44975349	41,12965	2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975349G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.842C>T	14.37:g.44975349G>A	ENSP00000344579:p.Ala281Val						p.A281V	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1133	-			281					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.842C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452098	0.01080	0.002497	0.003488	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25414	1.8	3.86	-7.73	0.01245	.	.	.	.	.	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.15870	0.014	T	0.12066	-1.0562	9	0.18710	T	0.47	1.4119	6.3551	0.21397	0.1309:0.2257:0.5317:0.1117	.	281	Q5H9T9	FSCB_HUMAN	V	281	ENSP00000344579:A281V	ENSP00000344579:A281V	A	-	2	0	FSCB	44045099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.261000	0.02855	-2.588000	0.00458	-1.224000	0.01588	GCG		0.483	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		78	306	0	0	0	1	0	78	306					A	44975349	G	A	44975349	3	1	79	1	0	0	0	0	1	0	0	0	6093	1087	38	1	1639	1	FSCB	14	44975349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	44975349	62374191	14611	24928											
FAM179B	23116	broad.mit.edu	37	chr14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccccctccgcgctgCttctgctgccgccctttcca	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361577.3	+	1	239	c.25C>A	c.(25-27)Ctt>Att	p.L9I	FAM179B_ENST00000361462.2_Missense_Mutation_p.L9I|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	9										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(25-27)Ctt>Att		family with sequence similarity 179, member B							20	23	22					14																	45431649		2198	4298	6496	SO:0001583	missense	23116						binding	g.chr14:45431649C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.25C>A	14.37:g.45431649C>A	ENSP00000355045:p.Leu9Ile					FAM179B_ENST00000361577.3_Missense_Mutation_p.L9I|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I	p.L9I			Q9Y4F4	F179B_HUMAN			1	208	+			9					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.25C>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508303	0.44660	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38240	2.33;2.33;1.15	4.88	2.95	0.34219	.	0.355039	0.20528	N	0.090567	T	0.24774	0.0601	N	0.24115	0.695	0.19575	N	0.999969	B;B;B;B	0.28760	0.221;0.221;0.221;0.221	B;B;B;B	0.34652	0.121;0.187;0.187;0.187	T	0.18681	-1.0329	10	0.48119	T	0.1	-0.5936	6.3557	0.21400	0.0:0.7529:0.0:0.2471	.	9;9;9;9	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	9	ENSP00000355045:L9I;ENSP00000354917:L9I;ENSP00000371668:L9I	ENSP00000354917:L9I	L	+	1	0	FAM179B	44501399	0.933000	0.31639	0.356000	0.25785	0.748000	0.42578	1.172000	0.31908	0.555000	0.29079	0.655000	0.94253	CTT		0.612	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		48	215	1	0	3.21987e-24	1	3.67739e-24	48	215					A	45431649	C	A	45431649	3	1	79	1	0	0	0	0	1	0	0	0	5527	797	28	3	27	3	FAM179B	14	45431649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456300	45431649	61917891	14612	24929											
FAM179B	23116	broad.mit.edu	37	chr14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccgcagtcgtccttccGccccagagaccgatgatagt	11	14	0	3	rs372220648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361577.3	+	1	302	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	FAM179B_ENST00000361462.2_Missense_Mutation_p.A30T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	30										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(88-90)Gcc>Acc		family with sequence similarity 179, member B							29	30	29					14																	45431712		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45431712G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.88G>A	14.37:g.45431712G>A	ENSP00000355045:p.Ala30Thr					FAM179B_ENST00000361577.3_Missense_Mutation_p.A30T|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T	p.A30T			Q9Y4F4	F179B_HUMAN			1	271	+			30					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.88G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027082	0.19512	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36520	2.47;2.47;1.25	4.88	0.561	0.17285	.	0.305959	0.23642	N	0.046008	T	0.16300	0.0392	N	0.12182	0.205	0.25685	N	0.98576	B;B;B;B	0.15930	0.015;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.15694	-1.0428	10	0.27082	T	0.32	0.0	6.2572	0.20879	0.4888:0.0:0.5112:0.0	.	30;30;30;30	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	30	ENSP00000355045:A30T;ENSP00000354917:A30T;ENSP00000371668:A30T	ENSP00000354917:A30T	A	+	1	0	FAM179B	44501462	0.955000	0.32602	0.999000	0.59377	0.647000	0.38526	0.783000	0.26802	0.220000	0.20860	0.655000	0.94253	GCC		0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		53	150	0	0	0	1	0	53	150					A	45431712	G	A	45431712	3	1	79	1	0	0	0	0	1	0	0	0	5527	1087	38	1	90	1	FAM179B	14	45431712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	45431712	61917828	14613	24930											
FAM179B	23116	broad.mit.edu	37	chr14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtgatcaggagacagaaGaagaatctgagacagctttc	12	6	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361577.3	+	1	1025	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM179B_ENST00000361462.2_Missense_Mutation_p.E271K|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	271										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(811-813)Gaa>Aaa		family with sequence similarity 179, member B							88	93	91					14																	45432435		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432435G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.811G>A	14.37:g.45432435G>A	ENSP00000355045:p.Glu271Lys					FAM179B_ENST00000361577.3_Missense_Mutation_p.E271K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K	p.E271K			Q9Y4F4	F179B_HUMAN			1	994	+			271					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.811G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001673	0.74932	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52983	0.64;0.64;0.64	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000111	T	0.32526	0.0832	N	0.19112	0.55	0.36094	D	0.84367	P;B;B;P	0.42296	0.775;0.167;0.167;0.649	B;B;B;B	0.36666	0.23;0.124;0.085;0.23	T	0.49862	-0.8894	10	0.66056	D	0.02	-15.5345	13.7639	0.62983	0.0:0.0:1.0:0.0	.	271;271;271;271	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	271	ENSP00000355045:E271K;ENSP00000354917:E271K;ENSP00000371668:E271K	ENSP00000354917:E271K	E	+	1	0	FAM179B	44502185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.307000	0.51888	2.619000	0.88677	0.561000	0.74099	GAA		0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		103	463	0	0	0	1	0	103	463					A	45432435	G	A	45432435	3	1	79	1	0	0	0	0	1	0	0	0	5527	943	33	2	813	2	FAM179B	14	45432435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	45432435	61917105	14614	24931											
FAM179B	23116	broad.mit.edu	37	chr14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaatctgagacagctttCtccgcacttcaacaaattgg	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361577.3	+	1	1045	c.831C>A	c.(829-831)ttC>ttA	p.F277L	FAM179B_ENST00000361462.2_Missense_Mutation_p.F277L|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	277										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(829-831)ttC>ttA		family with sequence similarity 179, member B							83	89	87					14																	45432455		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432455C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.831C>A	14.37:g.45432455C>A	ENSP00000355045:p.Phe277Leu					FAM179B_ENST00000361577.3_Missense_Mutation_p.F277L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L	p.F277L			Q9Y4F4	F179B_HUMAN			1	1014	+			277					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.831C>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534101	0.45073	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.55052	0.54;0.54;0.54	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000154	T	0.50309	0.1608	N	0.19112	0.55	0.29801	N	0.83247	B;D;D;B	0.58268	0.119;0.982;0.979;0.119	B;D;D;B	0.68943	0.067;0.961;0.92;0.067	T	0.43310	-0.9399	10	0.40728	T	0.16	-9.5516	6.3306	0.21269	0.0:0.7762:0.0:0.2238	.	277;277;277;277	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	277	ENSP00000355045:F277L;ENSP00000354917:F277L;ENSP00000371668:F277L	ENSP00000354917:F277L	F	+	3	2	FAM179B	44502205	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.604000	0.24164	1.354000	0.45846	0.561000	0.74099	TTC		0.507	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		98	464	1	0	2.54621e-43	1	3.10758e-43	98	464					A	45432455	C	A	45432455	3	1	79	1	0	0	0	0	1	0	0	0	5527	912	32	3	833	3	FAM179B	14	45432455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	45432455	61917085	14615	24932											
FAM179B	23116	broad.mit.edu	37	chr14	45432488	45432488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattggggagcgacttggCcaagacaggtttcaatctta	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361577.3	+	1	1078	c.864C>T	c.(862-864)ggC>ggT	p.G288G	FAM179B_ENST00000361462.2_Silent_p.G288G|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.G288G|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	288										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(862-864)ggC>ggT		family with sequence similarity 179, member B							75	80	78					14																	45432488		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45432488C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.864C>T	14.37:g.45432488C>T						FAM179B_ENST00000361577.3_Silent_p.G288G|FAM179B_ENST00000382233.2_Silent_p.G288G	p.G288G			Q9Y4F4	F179B_HUMAN			1	1047	+			288					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.864C>T	CCDS9681.1																																																																																				0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		104	400	0	0	0	1	0	104	400					T	45432488	C	T	45432488	2	4	79	1	0	0	0	0	0	0	0	1	5527	726	26	2		2	FAM179B	14	45432488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	45432488	61917052	14616	24933											
FAM179B	23116	broad.mit.edu	37	chr14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagcatcctttttaaaGctgtggatacagttgaactg	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361577.3	+	1	1868	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	FAM179B_ENST00000361462.2_Missense_Mutation_p.A552T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|KLHL28_ENST00000553817.1_5'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	552										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1654-1656)Gct>Act		family with sequence similarity 179, member B							118	120	119					14																	45433278		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433278G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1654G>A	14.37:g.45433278G>A	ENSP00000355045:p.Ala552Thr					KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.A552T|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T	p.A552T			Q9Y4F4	F179B_HUMAN			1	1837	+			552					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1654G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413625	0.83449	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04551	3.6;3.6;3.6	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.16041	0.0386	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	D;D;D;D	0.91635	0.98;0.998;0.999;0.98	T	0.01349	-1.1378	10	0.42905	T	0.14	-12.3087	16.9161	0.86152	0.0:0.0:1.0:0.0	.	552;552;552;552	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	552	ENSP00000355045:A552T;ENSP00000354917:A552T;ENSP00000371668:A552T	ENSP00000354917:A552T	A	+	1	0	FAM179B	44503028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	GCT		0.468	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		89	436	0	0	0	1	0	89	436					A	45433278	G	A	45433278	3	1	79	1	0	0	0	0	1	0	0	0	5527	971	34	2	1656	2	FAM179B	14	45433278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	45433278	61916262	14617	24934											
PRPF39	55015	broad.mit.edu	37	chr14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattccaacacagctgtataGtcatcattttcagaggtagg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	241					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(721-723)aGt>aTt		pre-mRNA processing factor 39							175	192	186					14																	45571884		2203	4300	6503	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45571884G>T	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.722G>T	14.37:g.45571884G>T	ENSP00000348010:p.Ser241Ile						p.S241I	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			5	892	+			241					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.722G>T	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	.	0.086607	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.67548	0.923;0.952	T	0.55457	-0.8138	10	0.44086	T	0.13	-5.6361	19.5493	0.95311	0.0:0.0:1.0:0.0	.	241;120	Q86UA1;F5H1P0	PRP39_HUMAN;.	I	241;120	ENSP00000348010:S241I	ENSP00000348010:S241I	S	+	2	0	PRPF39	44641634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.728000	0.93425	0.650000	0.86243	AGT		0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			145	745	1	0	1.55176e-64	1	1.96059e-64	145	745					T	45571884	G	T	45571884	3	4	79	1	0	0	0	0	1	0	0	0	12616	1029	36	3	736	3	PRPF39	14	45571884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138606	45571884	61777656	14618	24935											
FANCM	57697	broad.mit.edu	37	chr14	45605403	45605403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcggacgatgatgtgTtgcttgtcgcggcgtacgag	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000267430.5	+	1	254	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FANCM_ENST00000556036.1_Silent_p.L57L|FANCM_ENST00000542564.2_Silent_p.L57L|FKBP3_ENST00000216330.3_5'Flank|FKBP3_ENST00000396062.3_5'Flank	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	57					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGATGATGTGTTGCTTGTCGC	0.632								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(169-171)Ttg>Ctg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							78	76	77					14																	45605403		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605403T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.169T>C	14.37:g.45605403T>C						FANCM_ENST00000542564.2_Silent_p.L57L|FANCM_ENST00000556036.1_Silent_p.L57L	p.L57L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	254	+			57					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.169T>C	CCDS32070.1																																																																																				0.632	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		21	392	0	0	0	1	0	21	392					C	45605403	T	C	45605403	2	2	79	1	0	0	0	0	0	0	0	1	5696	1722	60	4		4	FANCM	14	45605403	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33519	45605403	61744137	14619	24936											
FANCM	57697	broad.mit.edu	37	chr14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcaagtaacaggcagGtccttcatttttaccaaaga	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000267430.5	+	11	1937	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	618	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAACAGGCAGGTCCTTCATTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1852-1854)Gtc>Ctc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							107	120	116					14																	45636216		2203	4299	6502	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45636216G>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1852G>C	14.37:g.45636216G>C	ENSP00000267430:p.Val618Leu					FANCM_ENST00000542564.2_Missense_Mutation_p.V592L|FANCM_ENST00000556036.1_Missense_Mutation_p.V618L	p.V618L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			11	1937	+			618			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1852G>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064910	0.08388	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.16897	2.78;2.85;2.86;2.31	5.65	2.81	0.32909	Helicase, C-terminal (1);	0.930262	0.09313	N	0.819360	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.36744	-0.9735	10	0.10902	T	0.67	.	9.4997	0.39011	0.3437:0.0:0.6563:0.0	.	592;618;618	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	618;618;592;134	ENSP00000450596:V618L;ENSP00000267430:V618L;ENSP00000442493:V592L;ENSP00000452033:V134L	ENSP00000267430:V618L	V	+	1	0	FANCM	44705966	0.091000	0.21658	0.908000	0.35775	0.971000	0.66376	1.682000	0.37628	0.859000	0.35456	-0.244000	0.11960	GTC		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		118	617	0	0	0	1	0	118	617					C	45636216	G	C	45636216	3	2	79	1	0	0	0	0	1	0	0	0	5696	1261	44	5	1894	5	FANCM	14	45636216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30813	45636216	61713324	14620	24937											
FANCM	57697	broad.mit.edu	37	chr14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatttagtacctaacaatCgtgttcaaatacacagaagc	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000267430.5	+	14	3380	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1099					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTAACAATCGTGTTCAAAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3295-3297)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							51	52	52					14																	45645252		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645252C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3295C>T	14.37:g.45645252C>T	ENSP00000267430:p.Arg1099Cys					FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	p.R1099C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3380	+			1099					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3295C>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.096|2.096	-0.407123|-0.407123	0.04832|0.04832	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17854|.	2.84;2.84;2.25|.	5.41|5.41	3.54|3.54	0.40534|0.40534	.|.	1.403590|.	0.03757|.	N|.	0.257590|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|5	0.34782|.	T|.	0.22|.	.|.	4.183|4.183	0.10385|0.10385	0.1626:0.5915:0.1576:0.0882|0.1626:0.5915:0.1576:0.0882	.|.	1073;1099|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	C|L	1099;1073;615|31	ENSP00000267430:R1099C;ENSP00000442493:R1073C;ENSP00000452033:R615C|.	ENSP00000267430:R1099C|.	R|S	+|+	1|2	0|0	FANCM|FANCM	44715002|44715002	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.025000|0.025000	0.11179|0.11179	-0.008000|-0.008000	0.12788|0.12788	0.715000|0.715000	0.32103|0.32103	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		65	294	0	0	0	1	0	65	294					T	45645252	C	T	45645252	3	4	79	1	0	0	0	0	1	0	0	0	5696	884	31	1	3349	1	FANCM	14	45645252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9036	45645252	61704288	14621	24938											
FANCM	57697	broad.mit.edu	37	chr14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaatttccagttccacAgaaggtatggatcaaagaaa	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000267430.5	+	20	5421	c.5336A>C	c.(5335-5337)cAg>cCg	p.Q1779P	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1779	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCAGTTCCACAGAAGGTATGG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5335-5337)cAg>cCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							71	74	73					14																	45658561		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658561A>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5336A>C	14.37:g.45658561A>C	ENSP00000267430:p.Gln1779Pro					FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	p.Q1779P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5421	+			1779			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5336A>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714759	0.15306	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.28	-0.183	0.13284	.	2.779230	0.01115	N	0.005661	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.30078	T	0.28	.	3.3885	0.07281	0.2996:0.1744:0.0:0.526	.	1753;1779	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	1779;1753;1295	ENSP00000267430:Q1779P;ENSP00000442493:Q1753P;ENSP00000452033:Q1295P	ENSP00000267430:Q1779P	Q	+	2	0	FANCM	44728311	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.677000	0.05215	0.088000	0.17205	-1.328000	0.01277	CAG		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		16	401	0	0	0	1	0	16	401					C	45658561	A	C	45658561	3	2	79	1	0	0	0	0	1	0	0	0	5696	188	7	4	5414	4	FANCM	14	45658561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13309	45658561	61690979	14622	24939											
FANCM	57697	broad.mit.edu	37	chr14	45667953	45667953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctgccaagaagaaacCgcagatttgctaaaggaact	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000267430.5	+	22	5908	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_ENST00000542564.2_Silent_p.T1915T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1941	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAAGAAACCGCAGATTTGC	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5821-5823)acC>acT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							87	87	87					14																	45667953		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45667953C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5823C>T	14.37:g.45667953C>T						FANCM_ENST00000542564.2_Silent_p.T1915T	p.T1941T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			22	5908	+			1941			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.5823C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557919	0.27827	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.7	-2.24	0.06909	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	.	0.468	0.00527	0.3728:0.2053:0.1324:0.2895	.	.	.	.	C	909	.	.	R	+	1	0	FANCM	44737703	0.213000	0.23551	0.955000	0.39395	0.996000	0.88848	-0.980000	0.03770	-1.052000	0.03222	-0.269000	0.10298	CGC		0.413	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		82	367	0	0	0	1	0	82	367					T	45667953	C	T	45667953	2	4	79	1	0	0	0	0	0	0	0	1	5696	639	23	1		1	FANCM	14	45667953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9392	45667953	61681587	14623	24940											
C14orf106	55320	broad.mit.edu	37	chr14	45679599	45679599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacctatttatagaacctaGcatgccaggactgacatgct	7	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45679599G>T	ENST00000310806.4	-	14	3594	c.3136C>A	c.(3136-3138)Cta>Ata	p.L1046I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1046					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGAACCTAGCATGCCAGGA	0.358																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(3136-3138)Cta>Ata		MIS18 binding protein 1							124	109	114					14																	45679599		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45679599G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3136C>A	14.37:g.45679599G>T	ENSP00000309790:p.Leu1046Ile						p.L1046I	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			14	3594	-			1046					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.3136C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808888	0.70797	.	.	ENSG00000129534	ENST00000310806	T	0.53640	0.61	5.64	4.72	0.59763	.	0.062950	0.64402	D	0.000005	T	0.67562	0.2906	M	0.78049	2.395	0.40652	D	0.98204	D	0.89917	1.0	D	0.75484	0.986	T	0.72544	-0.4261	10	0.87932	D	0	-11.476	11.9019	0.52688	0.0901:0.0:0.9099:0.0	.	1046	Q6P0N0	M18BP_HUMAN	I	1046	ENSP00000309790:L1046I	ENSP00000309790:L1046I	L	-	1	2	MIS18BP1	44749349	1.000000	0.71417	0.989000	0.46669	0.825000	0.46686	3.040000	0.49799	1.282000	0.44496	0.563000	0.77884	CTA		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			6	300	1	0	3.59834e-05	1	3.67436e-05	6	300					T	45679599	G	T	45679599	3	4	79	1	0	0	0	0	1	0	0	0	1743	962	34	3	278	3	C14orf106	14	45679599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11646	45679599	61669941	14624	24941											
C14orf106	55320	broad.mit.edu	37	chr14	45687562	45687562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgggattttccatgTatttcctctggcattcttca	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45687562T>C	ENST00000310806.4	-	12	3223	c.2765A>G	c.(2764-2766)tAc>tGc	p.Y922C		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	922	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCATGTATTTCCTCTG	0.443																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2764-2766)tAc>tGc		MIS18 binding protein 1							124	120	121					14																	45687562		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687562T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2765A>G	14.37:g.45687562T>C	ENSP00000309790:p.Tyr922Cys						p.Y922C	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3223	-			922			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2765A>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901626	0.52227	.	.	ENSG00000129534	ENST00000310806	T	0.57752	0.38	5.53	3.06	0.35304	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.269744	0.43919	D	0.000502	T	0.65770	0.2723	M	0.71581	2.175	0.46376	D	0.99901	D	0.76494	0.999	D	0.76071	0.987	T	0.65809	-0.6078	10	0.87932	D	0	-0.2962	6.319	0.21206	0.1408:0.0806:0.0:0.7786	.	922	Q6P0N0	M18BP_HUMAN	C	922	ENSP00000309790:Y922C	ENSP00000309790:Y922C	Y	-	2	0	MIS18BP1	44757312	0.997000	0.39634	0.779000	0.31741	0.697000	0.40408	2.731000	0.47343	0.895000	0.36342	0.477000	0.44152	TAC		0.443	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			53	488	0	0	0	1	0	53	488					C	45687562	T	C	45687562	3	2	79	1	0	0	0	0	1	0	0	0	1743	1638	57	4	657	4	C14orf106	14	45687562	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7963	45687562	61661978	14625	24942											
C14orf106	55320	broad.mit.edu	37	chr14	45693599	45693599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcatttgttccttttcaaGgttagatatttttattttcc	6	6	1	1	rs565326614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45693599G>T	ENST00000310806.4	-	11	2649	c.2191C>A	c.(2191-2193)Ctt>Att	p.L731I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	731					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTTTTCAAGGTTAGATATT	0.303																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2191-2193)Ctt>Att		MIS18 binding protein 1							70	72	71					14																	45693599		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693599G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2191C>A	14.37:g.45693599G>T	ENSP00000309790:p.Leu731Ile						p.L731I	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2649	-			731					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2191C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310554	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	-1.52	0.08637	.	1.308880	0.04551	N	0.389881	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	B	0.32022	0.139	T	0.35101	-0.9802	10	0.40728	T	0.16	0.9183	9.64	0.39833	0.5702:0.0:0.4298:0.0	.	731	Q6P0N0	M18BP_HUMAN	I	731	ENSP00000309790:L731I	ENSP00000309790:L731I	L	-	1	0	MIS18BP1	44763349	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	-0.051000	0.11885	-0.254000	0.09500	-0.150000	0.13652	CTT		0.303	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			84	351	1	0	3.27973e-32	1	3.87147e-32	84	351					T	45693599	G	T	45693599	3	4	79	1	0	0	0	0	1	0	0	0	1743	1000	35	3	1235	3	C14orf106	14	45693599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6037	45693599	61655941	14626	24943											
C14orf106	55320	broad.mit.edu	37	chr14	45716257	45716257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtagcctctgttagcataGttgattgaaatatattttta	7	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45716257G>T	ENST00000310806.4	-	2	691	c.233C>A	c.(232-234)aCt>aAt	p.T78N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	78					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTAGCATAGTTGATTGAAA	0.308																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(232-234)aCt>aAt		MIS18 binding protein 1							66	68	68					14																	45716257		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45716257G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.233C>A	14.37:g.45716257G>T	ENSP00000309790:p.Thr78Asn						p.T78N	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			2	691	-			78					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.233C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495596	0.44352	.	.	ENSG00000129534	ENST00000310806;ENST00000451174	T	0.32753	1.44	5.64	5.64	0.86602	.	0.145281	0.47455	D	0.000232	T	0.53302	0.1788	M	0.66939	2.045	0.37912	D	0.931412	D	0.89917	1.0	D	0.83275	0.996	T	0.53634	-0.8411	10	0.37606	T	0.19	-8.7125	15.2134	0.73244	0.0:0.0:1.0:0.0	.	78	Q6P0N0	M18BP_HUMAN	N	78	ENSP00000309790:T78N	ENSP00000309790:T78N	T	-	2	0	MIS18BP1	44786007	1.000000	0.71417	0.978000	0.43139	0.101000	0.19017	4.771000	0.62318	2.659000	0.90383	0.650000	0.86243	ACT		0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			68	320	1	0	1.20466e-24	1	1.37865e-24	68	320					T	45716257	G	T	45716257	3	4	79	1	0	0	0	0	1	0	0	0	1743	1029	36	3	3229	3	C14orf106	14	45716257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22658	45716257	61633283	14627	24944											
RPL10L	140801	broad.mit.edu	37	chr14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttgaacttggccctgCgcaaggcttcaatcacatgc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(457-459)cGc>cAc		ribosomal protein L10-like							85	85	85					14																	47120482		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120482C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.458G>A	14.37:g.47120482C>T	ENSP00000298283:p.Arg153His						p.R153H	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	546	-			153					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.458G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	RPL10L	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC		0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			101	385	0	0	0	1	0	101	385					T	47120482	C	T	47120482	3	4	79	1	0	0	0	0	1	0	0	0	13606	768	27	1	190	1	RPL10L	14	47120482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1404225	47120482	60229058	14628	24945											
RPL10L	140801	broad.mit.edu	37	chr14	47120892	47120892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacgagattttgggtaCggcttgttcttacaataccg	10	8	1	2	rs368319202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	16					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(46-48)ccG>ccA		ribosomal protein L10-like		C		3,4403	6.2+/-15.9	0,3,2200	90	95	93		48	-8.6	0	14		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL10L	NM_080746.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		16/215	47120892	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120892C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.48G>A	14.37:g.47120892C>T							p.P16P	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	136	-			16					Q8IUD1	Silent	SNP	ENST00000298283.3	37	c.48G>A	CCDS32071.1																																																																																				0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			113	499	0	0	0	1	0	113	499					T	47120892	C	T	47120892	2	4	79	1	0	0	0	0	0	0	0	1	13606	523	19	1		1	RPL10L	14	47120892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	47120892	60228648	14629	24946											
MDGA2	161357	broad.mit.edu	37	chr14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacctgaaatgaagtaAttgggtatatattaacatga	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000399232.2	-	15	3027	c.2663T>A	c.(2662-2664)aTt>aAt	p.I888N	MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000426342.1_Missense_Mutation_p.I659N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	888	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1975-1977)aTt>aAt		MAM domain containing glycosylphosphatidylinositol anchor 2							136	124	128					14																	47324240		1816	4076	5892	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324240A>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.2663T>A	14.37:g.47324240A>T	ENSP00000382178:p.Ile888Asn					MDGA2_ENST00000439988.2_Missense_Mutation_p.I888N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I957N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N	p.I659N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			15	2722	-			888					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1976T>A		.	.	.	.	.	.	.	.	.	.	A	10.88	1.475480	0.26511	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.126462	0.34314	U	0.004061	T	0.01189	0.0039	N	0.02697	-0.525	0.33543	D	0.595187	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.311	0.26475	0.8997:0.0:0.1003:0.0	.	888	Q7Z553	MDGA2_HUMAN	N	888;659;957;90;659	ENSP00000400011:I888N;ENSP00000405456:I659N;ENSP00000382178:I957N;ENSP00000382168:I90N;ENSP00000349925:I659N	ENSP00000349925:I659N	I	-	2	0	MDGA2	46393990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	1.890000	0.54733	0.455000	0.32223	ATT		0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		24	210	0	0	0	1	0	24	210					T	47324240	A	T	47324240	3	4	79	1	0	0	0	0	1	0	0	0	9448	101	4	5	219	5	MDGA2	14	47324240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203348	47324240	60025300	14630	24947											
MDGA2	161357	broad.mit.edu	37	chr14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcataactctccatttgCattgatccatcaggcattgc	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000399232.2	-	8	1837	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000426342.1_Missense_Mutation_p.M262I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	491	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(784-786)atG>atA		MAM domain containing glycosylphosphatidylinositol anchor 2							275	250	258					14																	47504353		1971	4173	6144	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504353C>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.1473G>A	14.37:g.47504353C>T	ENSP00000382178:p.Met491Ile					MDGA2_ENST00000439988.2_Missense_Mutation_p.M491I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M560I|MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I	p.M262I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1532	-			491			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.786G>A		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189648	0.57909	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.41465	0.1160	N	0.04018	-0.295	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18263	0.012;0.021	T	0.32798	-0.9893	10	0.15066	T	0.55	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	262;491	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	491;262;560;262	ENSP00000400011:M491I;ENSP00000405456:M262I;ENSP00000382178:M560I;ENSP00000349925:M262I	ENSP00000349925:M262I	M	-	3	0	MDGA2	46574103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.608000	0.88229	0.491000	0.48974	ATG		0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		35	875	0	0	0	1	0	35	875					T	47504353	C	T	47504353	3	4	79	1	0	0	0	0	1	0	0	0	9448	710	25	2	1437	2	MDGA2	14	47504353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180113	47504353	59845187	14631	24948											
MGAT2	4247	broad.mit.edu	37	chr14	50088031	50088031	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggtgctaatcctgacgctCgtggtggccgcctgcggctt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	15					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(43-45)ctC>ctA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							19	22	21					14																	50088031		2196	4285	6481	SO:0001819	synonymous_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088031C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.45C>A	14.37:g.50088031C>A						RP11-649E7.5_ENST00000555043.1_RNA	p.L15L	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	543	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		15					B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	c.45C>A	CCDS9690.1																																																																																				0.672	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		47	187	1	0	4.01344e-20	1	4.48984e-20	47	187					A	50088031	C	A	50088031	2	1	79	1	0	0	0	0	0	0	0	1	9584	871	31	3		3	MGAT2	14	50088031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2583678	50088031	57261509	14632	24949											
C14orf104	55172	broad.mit.edu	37	chr14	50092390	50092390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatccaggtatattgtgaAccgtagttttgttcagtaat	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50092390A>G	ENST00000298292.8	-	3	2464	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.V747A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	795					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TATATTGTGAACCGTAGTTTT	0.358																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2383-2385)gTt>gCt		dynein, axonemal, assembly factor 2							193	177	183					14																	50092390		2203	4300	6503	SO:0001583	missense	0				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092390A>G	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2384T>C	14.37:g.50092390A>G	ENSP00000298292:p.Val795Ala					DNAAF2_ENST00000406043.3_Missense_Mutation_p.V747A	p.V795A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2464	-			795					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.2384T>C	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049545	0.19827	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15372	2.43;2.43	5.17	4.03	0.46877	.	0.537427	0.17595	N	0.168625	T	0.16085	0.0387	L	0.57536	1.79	0.19945	N	0.999945	B;B	0.27351	0.172;0.176	B;B	0.25884	0.059;0.064	T	0.16867	-1.0388	10	0.32370	T	0.25	.	7.0326	0.24975	0.8197:0.0:0.1803:0.0	.	747;795	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	A	795;747	ENSP00000298292:V795A;ENSP00000384862:V747A	ENSP00000298292:V795A	V	-	2	0	DNAAF2	49162140	0.008000	0.16893	0.730000	0.30809	0.355000	0.29361	-0.127000	0.10547	1.077000	0.40990	0.451000	0.29950	GTT		0.358	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			25	206	0	0	0	1	0	25	206					G	50092390	A	G	50092390	3	3	79	1	0	0	0	0	1	0	0	0	1741	43	2	4	133	4	C14orf104	14	50092390	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4359	50092390	57257150	14633	24950											
C14orf104	55172	broad.mit.edu	37	chr14	50094868	50094868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttcattgacaaataaCctttcctaaaataaaaaggg	4	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50094868C>T	ENST00000298292.8	-	2	1949	c.1869G>A	c.(1867-1869)agG>agA	p.R623R	RP11-649E7.7_ENST00000556657.1_RNA|DNAAF2_ENST00000406043.3_Intron	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	623					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGACAAATAACCTTTCCTAAA	0.358																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(1867-1869)agG>agA		dynein, axonemal, assembly factor 2							34	34	34					14																	50094868		2202	4298	6500	SO:0001819	synonymous_variant	0				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50094868C>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1869G>A	14.37:g.50094868C>T						DNAAF2_ENST00000406043.3_Intron	p.R623R	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			2	1949	-			623					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.1869G>A	CCDS9691.2																																																																																				0.358	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			6	36	0	0	0	1	0	6	36					T	50094868	C	T	50094868	2	4	79	1	0	0	0	0	0	0	0	1	1741	506	18	2		2	C14orf104	14	50094868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2478	50094868	57254672	14634	24951											
POLE2	5427	broad.mit.edu	37	chr14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaggaatagccaaattgCtgctaggaaaacggacgcag	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000216367.5	-	16	1397	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	POLE2_ENST00000539565.2_Missense_Mutation_p.S407N|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	433					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AGCCAAATTGCTGCTAGGAAA	0.318																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1219-1221)aGc>aAc		polymerase (DNA directed), epsilon 2, accessory subunit							75	76	76					14																	50118009		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50118009C>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1298G>A	14.37:g.50118009C>T	ENSP00000216367:p.Ser433Asn					POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000216367.5_Missense_Mutation_p.S433N	p.S407N	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			15	1438	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		433					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1220G>A	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450900	0.26074	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.52;1.52;1.52	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.152499	0.64402	D	0.000001	T	0.19525	0.0469	N	0.20685	0.6	0.36970	D	0.893758	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.13495	-1.0507	10	0.25751	T	0.34	-14.4251	10.6341	0.45554	0.0:0.8577:0.0:0.1423	.	433;407;433	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	N	433;407;433	ENSP00000216367:S433N;ENSP00000446313:S407N;ENSP00000451621:S433N	ENSP00000216367:S433N	S	-	2	0	POLE2	49187759	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.097000	0.30988	2.861000	0.98227	0.655000	0.94253	AGC		0.318	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		45	150	0	0	0	1	0	45	150					T	50118009	C	T	50118009	3	4	79	1	0	0	0	0	1	0	0	0	12239	797	28	2	301	2	POLE2	14	50118009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23141	50118009	57231531	14635	24952											
KLHDC1	122773	broad.mit.edu	37	chr14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggctgcagctaatcacCgagaagaacaaagagtccaa	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	386						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(1156-1158)Cga>Tga		kelch domain containing 1							55	56	55					14																	50218425		2203	4299	6502	SO:0001587	stop_gained	122773					cytoplasm		g.chr14:50218425C>T	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1156C>T	14.37:g.50218425C>T	ENSP00000352282:p.Arg386*						p.R386*	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			13	1246	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		386					B3KXD9|Q8WYI1	Nonsense_Mutation	SNP	ENST00000359332.2	37	c.1156C>T	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947149	0.92593	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.53	4.62	0.57501	.	0.106294	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6475	11.2832	0.49208	0.3314:0.6686:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352282:R386X	R	+	1	2	KLHDC1	49288175	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.867000	0.27968	1.280000	0.44463	0.467000	0.42956	CGA		0.284	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		27	120	0	0	0	1	0	27	120					T	50218425	C	T	50218425	4	4	79	1	0	0	0	0	0	1	0	0	8384	644	23	1	1206	1	KLHDC1	14	50218425	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100416	50218425	57131115	14636	24953											
SDCCAG1	9147	broad.mit.edu	37	chr14	50255946	50255946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggagtttctttcttaatgTtgtcagagaccctctgtcca	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50255946T>G	ENST00000298310.5	-	28	3262	c.2813A>C	c.(2812-2814)aAc>aCc	p.N938T	NEMF_ENST00000382135.2_Missense_Mutation_p.N138T|NEMF_ENST00000546046.1_Missense_Mutation_p.N917T|NEMF_ENST00000545773.1_Missense_Mutation_p.N896T|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	938					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTCTTAATGTTGTCAGAGAC	0.428																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2812-2814)aAc>aCc		nuclear export mediator factor							208	203	205					14																	50255946		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50255946T>G	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2813A>C	14.37:g.50255946T>G	ENSP00000298310:p.Asn938Thr					NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.N138T|NEMF_ENST00000545773.1_Missense_Mutation_p.N896T|NEMF_ENST00000546046.1_Missense_Mutation_p.N917T	p.N938T			O60524	NEMF_HUMAN			28	3262	-			938					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2813A>C	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	0.085	-1.176537	0.01646	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.31	-0.159	0.13379	.	0.923564	0.09302	N	0.820865	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14805	0.001;0.004;0.006;0.0;0.011	B;B;B;B;B	0.16289	0.006;0.009;0.007;0.0;0.015	T	0.26573	-1.0099	10	0.14656	T	0.56	1.0719	3.5123	0.07713	0.2167:0.4141:0.0:0.3691	.	917;913;896;938;138	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	T	938;896;138;917;710;896	ENSP00000298310:N938T;ENSP00000438309:N896T;ENSP00000441016:N917T;ENSP00000452540:N896T	ENSP00000298310:N938T	N	-	2	0	NEMF	49325696	0.000000	0.05858	0.006000	0.13384	0.174000	0.22865	0.178000	0.16820	-0.397000	0.07691	-0.385000	0.06624	AAC		0.428	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		127	663	0	0	0	1	0	127	663					G	50255946	T	G	50255946	3	3	79	1	0	0	0	0	1	0	0	0	14007	1725	60	4	441	4	SDCCAG1	14	50255946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37521	50255946	57093594	14637	24954											
SDCCAG1	9147	broad.mit.edu	37	chr14	50269171	50269171	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaaatctataaactacCtaattgttccatttcttctg	2	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50269171C>A	ENST00000298310.5	-	22	2544	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	NEMF_ENST00000546046.1_Splice_Site_p.D678Y|NEMF_ENST00000545773.1_Splice_Site_p.D657Y|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	699					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TATAAACTACCTAATTGTTCC	0.348																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e22+1		nuclear export mediator factor							101	93	96					14																	50269171		2203	4300	6503	SO:0001630	splice_region_variant	9147					cytoplasm|nucleus		g.chr14:50269171C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2095+1G>T	14.37:g.50269171C>A						NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Splice_Site_p.D657_splice|NEMF_ENST00000546046.1_Splice_Site_p.D678_splice	p.D699_splice			O60524	NEMF_HUMAN			22	2544	-			699					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Splice_Site	SNP	ENST00000298310.5	37	c.2095_splice	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958264	0.53400	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.50548	0.76;0.76;0.74;0.76	5.27	5.27	0.74061	.	0.330083	0.28214	N	0.016170	T	0.43033	0.1229	N	0.08118	0	0.80722	D	1	P;P;P;P	0.45176	0.824;0.759;0.852;0.828	P;P;P;P	0.53102	0.521;0.51;0.718;0.514	T	0.38329	-0.9666	9	.	.	.	-13.4972	18.5418	0.91031	0.0:1.0:0.0:0.0	.	678;674;657;699	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	Y	699;657;678;471;657	ENSP00000298310:D699Y;ENSP00000438309:D657Y;ENSP00000441016:D678Y;ENSP00000452540:D657Y	.	D	-	1	0	NEMF	49338921	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	6.370000	0.73114	2.487000	0.83934	0.579000	0.79373	GAT		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	Missense_Mutation	5	193	1	0	0.014758	1	0.0148251	5	193					A	50269171	C	A	50269171	5	1	79	1	0	0	0	0	0	0	1	0	14007	695	24	3	1183	3	SDCCAG1	14	50269171	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13225	50269171	57080369	14638	24955											
SDCCAG1	9147	broad.mit.edu	37	chr14	50318311	50318311	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaactagacggcatcatattCttaggccactcaaattctgt	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50318311C>A	ENST00000298310.5	-	3	650	c.201G>T	c.(199-201)aaG>aaT	p.K67N	NEMF_ENST00000546046.1_Missense_Mutation_p.K67N|RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000556672.1_Missense_Mutation_p.K67N|NEMF_ENST00000545773.1_Missense_Mutation_p.K67N			O60524	NEMF_HUMAN	nuclear export mediator factor	67					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCATCATATTCTTAGGCCACT	0.343																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(199-201)aaG>aaT		nuclear export mediator factor							117	114	115					14																	50318311		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50318311C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.201G>T	14.37:g.50318311C>A	ENSP00000298310:p.Lys67Asn					NEMF_ENST00000545773.1_Missense_Mutation_p.K67N|NEMF_ENST00000546046.1_Missense_Mutation_p.K67N|NEMF_ENST00000556672.1_Missense_Mutation_p.K67N	p.K67N			O60524	NEMF_HUMAN			3	650	-			67					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.201G>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892214	0.72524	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626;ENST00000556672	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.47	4.54	0.55810	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.86502	2.82	0.80722	D	1	P;D;D;D	0.89917	0.754;1.0;1.0;1.0	P;D;D;D	0.91635	0.623;0.997;0.997;0.999	T	0.64050	-0.6498	10	0.41790	T	0.15	-12.656	10.3203	0.43762	0.0:0.8275:0.0:0.1725	.	67;67;67;67	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	N	67	ENSP00000298310:K67N;ENSP00000438309:K67N;ENSP00000441016:K67N;ENSP00000452540:K67N;ENSP00000451740:K67N;ENSP00000452174:K67N	ENSP00000298310:K67N	K	-	3	2	NEMF	49388061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.565000	0.36386	1.224000	0.43551	0.455000	0.32223	AAG		0.343	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		47	247	1	0	5.22555e-25	1	5.98653e-25	47	247					A	50318311	C	A	50318311	3	1	79	1	0	0	0	0	1	0	0	0	14007	912	32	3	3153	3	SDCCAG1	14	50318311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49140	50318311	57031229	14639	24956											
SOS2	6655	broad.mit.edu	37	chr14	50641224	50641224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactggcaccagcataagaCgtggaaggacataacgaact	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	ENST00000216373.5	-	8	1290	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	339	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.R339H(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)					CAGCATAAGACGTGGAAGGAC	0.378																																						ENST00000216373.5																			2	Substitution - Missense(2)	p.R339H(2)	large_intestine(2)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1015-1017)cGt>cAt		son of sevenless homolog 2 (Drosophila)							111	82	92					14																	50641224		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.chr14:50641224C>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.1016G>A	14.37:g.50641224C>T	ENSP00000216373:p.Arg339His					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	p.R339H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			8	1290	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		339			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1016G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347167	0.82022	.	.	ENSG00000100485	ENST00000216373	D	0.92348	-3.02	5.6	4.72	0.59763	Dbl homology (DH) domain (5);	0.051123	0.85682	D	0.000000	D	0.94159	0.8126	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61275	0.886;0.886	D	0.94482	0.7694	10	0.72032	D	0.01	.	14.443	0.67330	0.0:0.9292:0.0:0.0707	.	369;339	Q59G32;Q07890	.;SOS2_HUMAN	H	339	ENSP00000216373:R339H	ENSP00000216373:R339H	R	-	2	0	SOS2	49710974	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.403000	0.66338	1.368000	0.46115	0.591000	0.81541	CGT		0.378	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	144	0	0	0	1	0	11	144					T	50641224	C	T	50641224	3	4	79	1	0	0	0	0	1	0	0	0	14987	536	19	1	3046	1	SOS2	14	50641224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322913	50641224	56708316	14640	24957											
L2HGDH	79944	broad.mit.edu	37	chr14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacacataatttggctttcAgagactcaggtttataataa	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000267436.4	-	3	720	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|MIR4504_ENST00000577413.1_RNA|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	108					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(322-324)cTg>cCg		L-2-hydroxyglutarate dehydrogenase							148	143	145					14																	50768820		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50768820A>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.323T>C	14.37:g.50768820A>G	ENSP00000267436:p.Leu108Pro					L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P	p.L108P			Q9H9P8	L2HDH_HUMAN			3	720	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		108					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.323T>C	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498281	0.85069	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.6461	16.008	0.80377	1.0:0.0:0.0:0.0	.	108;108	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	108	ENSP00000261699:L108P;ENSP00000267436:L108P;ENSP00000405559:L108P;ENSP00000450494:L108P;ENSP00000452483:L108P	ENSP00000261699:L108P	L	-	2	0	L2HGDH	49838570	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.089000	0.94137	2.250000	0.74265	0.533000	0.62120	CTG		0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		101	429	0	0	0	1	0	101	429					G	50768820	A	G	50768820	3	3	79	1	0	0	0	0	1	0	0	0	8621	188	7	4	1100	4	L2HGDH	14	50768820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127596	50768820	56580720	14641	24958											
CDKL1	8814	broad.mit.edu	37	chr14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaaagcagtggtgctttCggctctttcttagggtcttc	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	ENST00000395834.1	-	8	965	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000216378.2_3'UTR	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	312					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R313Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418																																						ENST00000395834.1																			2	Substitution - Missense(2)	p.R313Q(2)	large_intestine(2)	endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(937-939)cGa>cAa		cyclin-dependent kinase-like 1 (CDC2-related kinase)							285	278	280					14																	50799011		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50799011C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.938G>A	14.37:g.50799011C>T	ENSP00000379176:p.Arg313Gln					CDKL1_ENST00000216378.2_3'UTR|ATP5S_ENST00000358473.1_Intron	p.R313Q	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN			8	965	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		312					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	c.938G>A	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	Protein kinase-like domain (1);	.	.	.	.	T	0.47600	0.1454	L	0.34521	1.04	0.46586	D	0.999114	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.22109	T	0.4	.	6.9607	0.24595	0.0:0.5581:0.1076:0.3343	.	312	Q00532	CDKL1_HUMAN	Q	313	ENSP00000379176:R313Q	ENSP00000379176:R313Q	R	-	2	0	CDKL1	49868761	0.177000	0.23109	0.103000	0.21229	0.133000	0.20885	-0.075000	0.11431	-0.331000	0.08501	-1.000000	0.02509	CGA		0.418	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2			177	834	0	0	0	1	0	177	834					T	50799011	C	T	50799011	3	4	79	1	0	0	0	0	1	0	0	0	3162	884	31	1	146	1	CDKL1	14	50799011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30191	50799011	56550529	14642	24959											
ATL1	51062	broad.mit.edu	37	chr14	51094994	51094994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccacactgtttgtagtcatCtttatcacatatgtgattgc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000358385.6	+	12	1606	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000441560.2_Silent_p.I455I	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	455	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(1363-1365)atC>atT		atlastin GTPase 1							212	179	190					14																	51094994		2203	4300	6503	SO:0001819	synonymous_variant	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51094994C>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1365C>T	14.37:g.51094994C>T						ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000358385.6_Silent_p.I455I|ATL1_ENST00000354525.4_Silent_p.I455I	p.I455I	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			13	1846	+			455			Sufficient for membrane association.		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	37	c.1365C>T	CCDS9700.1																																																																																				0.398	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			114	415	0	0	0	1	0	114	415					T	51094994	C	T	51094994	2	4	79	1	0	0	0	0	0	0	0	1	1107	903	32	2		2	ATL1	14	51094994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295983	51094994	56254546	14643	24960											
NIN	51199	broad.mit.edu	37	chr14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgttttacagtttccGttttttgcctaaaaggaatg	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000382041.3	-	20	4863	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000245441.5_Missense_Mutation_p.T1558M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1558					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACAGTTTCCGTTTTTTGCCT	0.274			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(4672-4674)aCg>aTg		ninein (GSK3B interacting protein)							70	66	67					14																	51221342		2198	4293	6491	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51221342G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4673C>T	14.37:g.51221342G>A	ENSP00000371472:p.Thr1558Met					NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000382041.3_Missense_Mutation_p.T1558M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M	p.T1558M	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			20	4863	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1558					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.4673C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466720	0.26335	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.11604	3.56;2.76;2.76;3.3;3.3;3.3	4.77	3.63	0.41609	.	0.570870	0.19028	N	0.124637	T	0.07908	0.0198	N	0.22421	0.69	0.24797	N	0.992728	P;P;P;D;P	0.61080	0.799;0.871;0.709;0.989;0.895	B;B;B;B;B	0.43701	0.159;0.101;0.165;0.428;0.308	T	0.23619	-1.0183	10	0.30078	T	0.28	-4.709	8.8968	0.35470	0.9068:0.0:0.0932:0.0	.	1564;1558;1558;845;1558	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	1558;1541;845;845;1564;1558;1558;1558	ENSP00000245441:T1558M;ENSP00000374518:T845M;ENSP00000371474:T845M;ENSP00000371472:T1558M;ENSP00000324210:T1558M;ENSP00000412391:T1558M	ENSP00000245441:T1558M	T	-	2	0	NIN	50291092	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.796000	0.55507	0.791000	0.33826	-0.471000	0.05019	ACG		0.274	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		19	101	0	0	0	1	0	19	101					A	51221342	G	A	51221342	3	1	79	1	0	0	0	0	1	0	0	0	10459	1145	40	1	1924	1	NIN	14	51221342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126348	51221342	56128198	14644	24961											
NIN	51199	broad.mit.edu	37	chr14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtgcctcatcgtagcGtgtctccatcattctcagct	7	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000382041.3	-	18	4004	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000245441.5_Missense_Mutation_p.R1272C|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1272					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATCGTAGCGTGTCTCCATC	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3814-3816)Cgc>Tgc		ninein (GSK3B interacting protein)							173	175	175					14																	51223934		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223934G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3814C>T	14.37:g.51223934G>A	ENSP00000371472:p.Arg1272Cys					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000382041.3_Missense_Mutation_p.R1272C|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C	p.R1272C	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	4004	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1272					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3814C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.057|6.057	0.378912|0.378912	0.11466|0.11466	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.09538|0.14893	3.24;2.97;2.97;2.97|2.47;2.48	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.445379|.	0.23993|.	N|.	0.042559|.	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19817|.	0.039;0.022;0.038;0.017|.	B;B;B;B|.	0.14578|.	0.007;0.007;0.007;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.54805|0.45353	T|T	0.06|0.12	-3.2342|-3.2342	12.9848|12.9848	0.58586|0.58586	0.0:0.0:0.8387:0.1613|0.0:0.0:0.8387:0.1613	.|.	1278;1272;1272;1272|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	C|M	1272;1255;1278;1272;1272;1272|762	ENSP00000245441:R1272C;ENSP00000371472:R1272C;ENSP00000324210:R1272C;ENSP00000412391:R1272C|ENSP00000374519:T762M;ENSP00000433717:T762M	ENSP00000245441:R1272C|ENSP00000374519:T762M	R|T	-|-	1|2	0|0	NIN|NIN	50293684|50293684	0.009000|0.009000	0.17119|0.17119	0.305000|0.305000	0.25099|0.25099	0.015000|0.015000	0.08874|0.08874	1.696000|1.696000	0.37773|0.37773	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		186	689	0	0	0	1	0	186	689					A	51223934	G	A	51223934	3	1	79	1	0	0	0	0	1	0	0	0	10459	1145	40	1	2791	1	NIN	14	51223934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	51223934	56125606	14645	24962											
NIN	51199	broad.mit.edu	37	chr14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccctctactgaagcttcaGactcctctattttgacttcc	4	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000382041.3	-	18	3708	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000245441.5_Missense_Mutation_p.S1173F|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1173					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGAAGCTTCAGACTCCTCTAT	0.493			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3517-3519)tCt>tTt		ninein (GSK3B interacting protein)							125	130	128					14																	51224230		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224230G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3518C>T	14.37:g.51224230G>A	ENSP00000371472:p.Ser1173Phe					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000382041.3_Missense_Mutation_p.S1173F|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F	p.S1173F	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3708	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1173					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3518C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	8.869	0.948780	0.18356	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.08282	3.37;3.11;3.11;3.11	5.78	3.91	0.45181	.	0.571186	0.18572	N	0.137314	T	0.15955	0.0384	M	0.67953	2.075	0.20074	N	0.999934	D;D;D;D	0.56746	0.968;0.968;0.977;0.96	P;P;P;P	0.54100	0.68;0.727;0.742;0.605	T	0.11179	-1.0598	10	0.48119	T	0.1	-6.9812	5.2825	0.15682	0.2186:0.2878:0.4936:0.0	.	1179;1173;1173;1173	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	F	1173;1156;1179;1173;1173;1173	ENSP00000245441:S1173F;ENSP00000371472:S1173F;ENSP00000324210:S1173F;ENSP00000412391:S1173F	ENSP00000245441:S1173F	S	-	2	0	NIN	50293980	0.011000	0.17503	0.912000	0.35992	0.102000	0.19082	0.647000	0.24812	0.761000	0.33130	0.563000	0.77884	TCT		0.493	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		21	835	0	0	0	1	0	21	835					A	51224230	G	A	51224230	3	1	79	1	0	0	0	0	1	0	0	0	10459	942	33	2	3087	2	NIN	14	51224230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	51224230	56125310	14646	24963											
NIN	51199	broad.mit.edu	37	chr14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctacttgcttcgttcGgttttgctgtaaaaactgct	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000382041.3	-	18	3581	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1131					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCGTTCGGTTTTGCTGT	0.483			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3391-3393)Cga>Tga		ninein (GSK3B interacting protein)							156	147	150					14																	51224357		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224357G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3391C>T	14.37:g.51224357G>A	ENSP00000371472:p.Arg1131*					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1131*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*	p.R1131*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3581	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1131					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.3391C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.912985|6.912985	0.97932|0.97932	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|.	.|.	.|.	5.56|5.56	2.23|2.23	0.28157|0.28157	.|.	.|0.857809	.|0.10228	.|N	.|0.700090	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34354|.	-0.9832|.	3|.	.|0.11182	.|T	.|0.66	0.2394|0.2394	7.5752|7.5752	0.27931|0.27931	0.0905:0.0:0.4837:0.4258|0.0905:0.0:0.4837:0.4258	.|.	.|.	.|.	.|.	L|X	621|1131;1114;1137;1131;1131;1131	.|.	.|ENSP00000245441:R1131X	P|R	-|-	2|1	0|2	NIN|NIN	50294107|50294107	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.419000|0.419000	0.21247|0.21247	0.596000|0.596000	0.29794|0.29794	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		91	816	0	0	0	1	0	91	816					A	51224357	G	A	51224357	4	1	79	1	0	0	0	0	0	1	0	0	10459	1124	39	1	3214	1	NIN	14	51224357	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	51224357	56125183	14647	24964											
NIN	51199	broad.mit.edu	37	chr14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggttgtggtacgtcGtccactctcatcgaaagact	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000382041.3	-	9	1022	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGGTACGTCGTCCACTCTCA	0.498			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(832-834)Cga>Tga		ninein (GSK3B interacting protein)							98	78	85					14																	51239168		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239168G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.832C>T	14.37:g.51239168G>A	ENSP00000371472:p.Arg278*					NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*	p.R278*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			9	1022	-	all_epithelial(31;0.00244)|Breast(41;0.127)		278					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.832C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661193	0.97743	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.55	3.4	0.38934	.	0.052990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3615	13.1678	0.59581	0.0:0.0:0.4918:0.5082	.	.	.	.	X	278;278;278;278;284;278;278;278;240	.	ENSP00000245441:R278X	R	-	1	2	NIN	50308918	0.993000	0.37304	0.981000	0.43875	0.757000	0.42996	2.152000	0.42272	1.170000	0.42753	0.563000	0.77884	CGA		0.498	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		34	161	0	0	0	1	0	34	161					A	51239168	G	A	51239168	4	1	79	1	0	0	0	0	0	1	0	0	10459	1153	40	1	5809	1	NIN	14	51239168	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14811	51239168	56110372	14648	24965											
PYGL	5836	broad.mit.edu	37	chr14	51378884	51378884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgactcacggttgtacatCgtgatcacatgcagacagtt	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000532462.1_Silent_p.T586T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.T552T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					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)			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)	GGTTGTACATCGTGATCACAT	0.512																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1756-1758)acG>acA		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171	151	158					14																	51378884		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378884C>T		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.1758G>A	14.37:g.51378884C>T						PYGL_ENST00000532462.1_Silent_p.T586T|PYGL_ENST00000544180.2_Silent_p.T552T	p.T586T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			14	2090	-	all_epithelial(31;0.00825)|Breast(41;0.148)		586					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1758G>A	CCDS32080.1																																																																																				0.512	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		138	561	0	0	0	1	0	138	561					T	51378884	C	T	51378884	2	4	79	1	0	0	0	0	0	0	0	1	12911	871	31	1		1	PYGL	14	51378884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139716	51378884	55970656	14649	24966											
PYGL	5836	broad.mit.edu	37	chr14	51378995	51378995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttgtactccgtctccagGaactgagaaaacttcagctt	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000532462.1_Silent_p.F549F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.F515F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	549					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)			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)	CCGTCTCCAGGAACTGAGAAA	0.448																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1645-1647)ttC>ttT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						165	159	161					14																	51378995		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378995G>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.1647C>T	14.37:g.51378995G>A						PYGL_ENST00000532462.1_Silent_p.F549F|PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA	p.F549F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			14	1979	-	all_epithelial(31;0.00825)|Breast(41;0.148)		549					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1647C>T	CCDS32080.1																																																																																				0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		123	693	0	0	0	1	0	123	693					A	51378995	G	A	51378995	2	1	79	1	0	0	0	0	0	0	0	1	12911	1165	41	2		2	PYGL	14	51378995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	51378995	55970545	14650	24967											
PYGL	5836	broad.mit.edu	37	chr14	51382068	51382068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcacactttagtcttcacGatgtctgagtggattttagc	9	9	4	1	rs199688614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000532462.1_Silent_p.I463I|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.I429I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					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.I463I(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)	TAGTCTTCACGATGTCTGAGT	0.473																																						ENST00000216392.7																			1	Substitution - coding silent(1)	p.I463I(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1387-1389)atC>atT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						263	226	239					14																	51382068		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382068G>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.1389C>T	14.37:g.51382068G>A						PYGL_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I	p.I463I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			11	1721	-	all_epithelial(31;0.00825)|Breast(41;0.148)		463					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1389C>T	CCDS32080.1																																																																																				0.473	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		127	558	0	0	0	1	0	127	558					A	51382068	G	A	51382068	2	1	79	1	0	0	0	0	0	0	0	1	12911	1048	37	1		1	PYGL	14	51382068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	51382068	55967472	14651	24968											
FRMD6	122786	broad.mit.edu	37	chr14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatggagttgtcacaaaagCtttacaaatattgtccaaaa	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000344768.5	+	4	422	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000395718.2_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	76	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCACAAAAGCTTTACAAATA	0.308																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(226-228)Ctt>Ttt		FERM domain containing 6							40	40	40					14																	52167809		2200	4297	6497	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52167809C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.226C>T	14.37:g.52167809C>T	ENSP00000343899:p.Leu76Phe					FRMD6_ENST00000344768.5_Missense_Mutation_p.L76F|FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F	p.L76F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			4	511	+	all_epithelial(31;0.0163)|Breast(41;0.089)		76			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.226C>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716038	0.89205	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	D;D;D;T;D	0.85013	-1.93;-1.93;-1.93;0.06;-1.77	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057299	0.64402	D	0.000001	D	0.92456	0.7605	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;D;D	0.74348	0.983;0.978;0.978	D	0.92506	0.6012	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	7;76;76	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	76;76;76;7;7	ENSP00000348550:L76F;ENSP00000379068:L76F;ENSP00000343899:L76F;ENSP00000451453:L7F;ENSP00000451977:L7F	ENSP00000343899:L76F	L	+	1	0	FRMD6	51237559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.951000	0.56684	2.727000	0.93392	0.650000	0.86243	CTT		0.308	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		15	57	0	0	0	1	0	15	57					T	52167809	C	T	52167809	3	4	79	1	0	0	0	0	1	0	0	0	6081	797	28	2	236	2	FRMD6	14	52167809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785741	52167809	55181731	14652	24969											
FRMD6	122786	broad.mit.edu	37	chr14	52182142	52182142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagacacctcctgcaacttCtgagcaacagccaccgcctc	6	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000344768.5	+	10	1145	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000395718.2_Silent_p.L309L|FRMD6_ENST00000356218.4_Silent_p.L309L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	317	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGCAACTTCTGAGCAACAG	0.542																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(925-927)Ctg>Ttg		FERM domain containing 6							59	62	61					14																	52182142		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52182142C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.949C>T	14.37:g.52182142C>T						FRMD6_ENST00000344768.5_Silent_p.L317L|FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000356218.4_Silent_p.L309L	p.L309L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			10	1210	+	all_epithelial(31;0.0163)|Breast(41;0.089)		317			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.925C>T	CCDS58318.1																																																																																				0.542	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		90	329	0	0	0	1	0	90	329					T	52182142	C	T	52182142	2	4	79	1	0	0	0	0	0	0	0	1	6081	912	32	2		2	FRMD6	14	52182142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14333	52182142	55167398	14653	24970											
NID2	22795	broad.mit.edu	37	chr14	52493938	52493938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcactggtgcccatcGccggcataaccaggcaggca	12	15	0	0	rs576898863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	ENST00000216286.5	-	12	2654	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	885	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGCCCATCGCCGGCATAAC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.001					ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2653-2655)ggC>ggT		nidogen 2 (osteonidogen)							36	33	34					14																	52493938		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52493938G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2655C>T	14.37:g.52493938G>A						NID2_ENST00000541773.1_Intron	p.G885G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			12	2654	-	Breast(41;0.0639)|all_epithelial(31;0.123)		885			EGF-like 4.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.2655C>T	CCDS9706.1																																																																																				0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			29	115	0	0	0	1	0	29	115					A	52493938	G	A	52493938	2	1	79	1	0	0	0	0	0	0	0	1	10457	1074	38	1		1	NID2	14	52493938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311796	52493938	54855602	14654	24971											
NID2	22795	broad.mit.edu	37	chr14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctacctgctcccaggtggCcaggaaggcgtgggtggggg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	158	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(472-474)Gcc>Tcc		nidogen 2 (osteonidogen)							55	69	64					14																	52534638		2176	4264	6440	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534638C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.472G>T	14.37:g.52534638C>A	ENSP00000216286:p.Ala158Ser					NID2_ENST00000541773.1_Missense_Mutation_p.A105S	p.A158S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			2	471	-	Breast(41;0.0639)|all_epithelial(31;0.123)		158			NIDO.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.472G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450520	0.84101	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.202722	0.52532	D	0.000080	T	0.47893	0.1470	M	0.88979	2.995	0.31430	N	0.673213	P;D;P	0.53745	0.925;0.962;0.877	P;P;B	0.52672	0.453;0.706;0.265	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.579	0.95458	0.0:1.0:0.0:0.0	.	105;160;158	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	158;105;160	ENSP00000216286:A158S;ENSP00000443730:A105S	ENSP00000216286:A158S	A	-	1	0	NID2	51604388	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	3.463000	0.53050	2.626000	0.88956	0.563000	0.77884	GCC		0.667	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			199	778	1	0	1.12399e-60	1	1.41402e-60	199	778					A	52534638	C	A	52534638	3	1	79	1	0	0	0	0	1	0	0	0	10457	739	26	3	3739	3	NID2	14	52534638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40700	52534638	54814902	14655	24972											
PTGDR	5729	broad.mit.edu	37	chr14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccagcctcatggcgctgCtggtcctcgccaccgtgctg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000306051.2	+	1	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	210					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(628-630)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						80	65	70					14																	52735160		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735160C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.628C>A	14.37:g.52735160C>A	ENSP00000303424:p.Leu210Met					PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	730	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		210					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.628C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779967	0.49891	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37915	1.17;1.17	4.76	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001694	T	0.49864	0.1582	M	0.64676	1.99	0.33085	D	0.537101	D	0.76494	0.999	D	0.75484	0.986	T	0.57785	-0.7751	10	0.49607	T	0.09	-7.4508	6.8445	0.23980	0.0:0.5646:0.2759:0.1596	.	210	Q13258	PD2R_HUMAN	M	210	ENSP00000303424:L210M;ENSP00000452408:L210M	ENSP00000303424:L210M	L	+	1	2	PTGDR	51804910	1.000000	0.71417	0.992000	0.48379	0.781000	0.44180	2.025000	0.41059	0.270000	0.21984	-0.302000	0.09304	CTG		0.667	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		68	335	1	0	1.02487e-32	1	1.21166e-32	68	335					A	52735160	C	A	52735160	3	1	79	1	0	0	0	0	1	0	0	0	12788	796	28	3	630	3	PTGDR	14	52735160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200522	52735160	54614380	14656	24973											
PTGDR	5729	broad.mit.edu	37	chr14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggatcacctcctgctgCtggcgctgatgaccgtgctc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000306051.2	+	1	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	267					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(799-801)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						100	102	102					14																	52735331		2180	4253	6433	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735331C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.799C>A	14.37:g.52735331C>A	ENSP00000303424:p.Leu267Met					PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	901	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		267					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.799C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227231	0.58668	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.50001	0.76;0.76	4.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001857	T	0.61689	0.2367	M	0.73962	2.25	0.41178	D	0.986219	D	0.65815	0.995	D	0.77557	0.99	T	0.60120	-0.7325	10	0.21540	T	0.41	-19.3755	8.2922	0.31965	0.0:0.8143:0.0:0.1857	.	267	Q13258	PD2R_HUMAN	M	267	ENSP00000303424:L267M;ENSP00000452408:L267M	ENSP00000303424:L267M	L	+	1	2	PTGDR	51805081	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.922000	0.40045	1.431000	0.47355	0.563000	0.77884	CTG		0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		242	912	1	0	3.91311e-84	1	5.01297e-84	242	912					A	52735331	C	A	52735331	3	1	79	1	0	0	0	0	1	0	0	0	12788	796	28	3	801	3	PTGDR	14	52735331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	52735331	54614209	14657	24974											
TXNDC16	57544	broad.mit.edu	37	chr14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccaagcaacccattctgCagttcttctatcagcttcat	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	290					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(868-870)Gca>Aca		thioredoxin domain containing 16							112	114	113					14																	52957612		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52957612C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.868G>A	14.37:g.52957612C>T	ENSP00000281741:p.Ala290Thr					TXNDC16_ENST00000554399.1_Intron	p.A290T	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			10	1239	-	Breast(41;0.0716)		290					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.868G>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950519	0.92660	.	.	ENSG00000087301	ENST00000281741	T	0.24908	1.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.869	T	0.43130	-0.9410	10	0.42905	T	0.14	-20.0312	17.16	0.86801	0.0:1.0:0.0:0.0	.	285;290	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	290	ENSP00000281741:A290T	ENSP00000281741:A290T	A	-	1	0	TXNDC16	52027362	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.958000	0.63660	2.709000	0.92574	0.655000	0.94253	GCA		0.393	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		81	436	0	0	0	1	0	81	436					T	52957612	C	T	52957612	3	4	79	1	0	0	0	0	1	0	0	0	16849	710	25	2	1657	2	TXNDC16	14	52957612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222281	52957612	54391928	14658	24975											
TXNDC16	57544	broad.mit.edu	37	chr14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcaatggctgttccattaGtgttcttctacattgctggg	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	230					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(688-690)Cta>Ata		thioredoxin domain containing 16							162	149	154					14																	52978026		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52978026G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.688C>A	14.37:g.52978026G>T	ENSP00000281741:p.Leu230Ile					TXNDC16_ENST00000554399.1_Intron	p.L230I	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			9	1059	-	Breast(41;0.0716)		230					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.688C>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438796	0.25900	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.13	3.27	0.37495	.	0.605074	0.16762	N	0.200572	T	0.11452	0.0279	L	0.50919	1.6	0.23943	N	0.996394	B;B	0.31485	0.325;0.214	B;B	0.19391	0.025;0.023	T	0.19679	-1.0298	10	0.19147	T	0.46	-9.7799	4.3288	0.11053	0.1874:0.0:0.6307:0.1819	.	225;230	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	230	ENSP00000281741:L230I	ENSP00000281741:L230I	L	-	1	2	TXNDC16	52047776	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	0.671000	0.25172	1.278000	0.44430	0.460000	0.39030	CTA		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		69	371	1	0	7.25294e-45	1	8.88171e-45	69	371					T	52978026	G	T	52978026	3	4	79	1	0	0	0	0	1	0	0	0	16849	1020	36	3	1841	3	TXNDC16	14	52978026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20414	52978026	54371514	14659	24976											
FERMT2	10979	broad.mit.edu	37	chr14	53348188	53348188	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgaatatatacttcCtaataagtaacatgaaaaac	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000341590.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TATATACTTCCTAATAAGTAA	0.353																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.e5-1		fermitin family member 2							99	100	100					14																	53348188		2203	4300	6503	SO:0001630	splice_region_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53348188C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.527-1G>T	14.37:g.53348188C>A						FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000341590.3_Splice_Site				Q96AC1	FERM2_HUMAN			5	743	-	Breast(41;0.0342)							B5TJY2|Q14840|Q86TY7	Splice_Site	SNP	ENST00000395631.2	37		CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016325	0.75161	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3068	0.98634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT2	52417938	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.803000	0.96430	0.591000	0.81541	.		0.353	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	Intron	38	482	1	0	9.45814e-24	1	1.07742e-23	38	482					A	53348188	C	A	53348188	5	1	79	1	0	0	0	0	0	0	1	0	5843	695	24	3	1597	3	FERMT2	14	53348188	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370162	53348188	54001352	14660	24977											
DDHD1	80821	broad.mit.edu	37	chr14	53518626	53518626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgggagattaaagaaCgattcttgaagtctgaaatc	11	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	819	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATTAAAGAACGATTCTTGAA	0.358																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2455-2457)tcG>tcA		DDHD domain containing 1							86	75	78					14																	53518626		1564	3580	5144	SO:0001819	synonymous_variant	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518626C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2457G>A	14.37:g.53518626C>T						DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	p.S819S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2456	-	Breast(41;0.037)		819			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.2457G>A	CCDS53895.1																																																																																				0.358	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			9	34	0	0	0	1	0	9	34					T	53518626	C	T	53518626	2	4	79	1	0	0	0	0	0	0	0	1	4337	523	19	1		1	DDHD1	14	53518626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170438	53518626	53830914	14661	24978											
DDHD1	80821	broad.mit.edu	37	chr14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcaacatgtgttgcaTggttggaaaaatgcctttct	9	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000323669.5	-	5	1336	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	446					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1336-1338)cAt>cGt		DDHD domain containing 1							95	96	96					14																	53540518		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53540518T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1337A>G	14.37:g.53540518T>C	ENSP00000327104:p.His446Arg					DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000323669.5_Missense_Mutation_p.H446R	p.H446R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			5	1520	-	Breast(41;0.037)		446					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1337A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825067	0.32237	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	.	0.779055	0.13146	N	0.410275	T	0.14960	0.0361	N	0.05306	-0.075	0.29132	N	0.879586	B;B;B	0.20887	0.049;0.047;0.005	B;B;B	0.15052	0.012;0.007;0.006	T	0.17319	-1.0373	10	0.13853	T	0.58	-17.3861	10.0733	0.42345	0.2459:0.0:0.0:0.7541	.	453;446;446	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	446;453;446;317	ENSP00000327104:H446R;ENSP00000378970:H453R;ENSP00000350401:H446R	ENSP00000327104:H446R	H	-	2	0	DDHD1	52610268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.878000	0.48515	2.210000	0.71456	0.533000	0.62120	CAT		0.328	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			76	317	0	0	0	1	0	76	317					C	53540518	T	C	53540518	3	2	79	1	0	0	0	0	1	0	0	0	4337	1464	51	4	1401	4	DDHD1	14	53540518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21892	53540518	53809022	14662	24979											
DDHD1	80821	broad.mit.edu	37	chr14	53558604	53558604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttgtcttctaatgtGgcttcttctacataacctct	7	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000323669.5	-	4	1187	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000357758.3_Silent_p.A396A	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	396					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1186-1188)gcC>gcT		DDHD domain containing 1							151	143	146					14																	53558604		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53558604G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1188C>T	14.37:g.53558604G>A						DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000323669.5_Silent_p.A396A	p.A396A	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			4	1371	-	Breast(41;0.037)		396					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.1188C>T	CCDS53895.1																																																																																				0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			83	330	0	0	0	1	0	83	330					A	53558604	G	A	53558604	2	1	79	1	0	0	0	0	0	0	0	1	4337	1335	47	2		2	DDHD1	14	53558604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18086	53558604	53790936	14663	24980											
BMP4	652	broad.mit.edu	37	chr14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcaaaagtttcccacCgtgtcacattgtggtggacc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	211					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(631-633)cGg>cAg		bone morphogenetic protein 4							111	102	105					14																	54417345		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417345C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.632G>A	14.37:g.54417345C>T	ENSP00000245451:p.Arg211Gln					BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q	p.R211Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1025	-			211					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.632G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013377	0.35511	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64260	-0.09;-0.09	5.09	3.11	0.35812	Transforming growth factor-beta, N-terminal (1);	0.417987	0.27126	N	0.020803	T	0.49064	0.1535	L	0.41824	1.3	0.30831	N	0.736733	B	0.18310	0.027	B	0.18871	0.023	T	0.51164	-0.8740	10	0.40728	T	0.16	.	8.2551	0.31751	0.0:0.7359:0.0:0.2641	.	211	P12644	BMP4_HUMAN	Q	211	ENSP00000245451:R211Q;ENSP00000394165:R211Q	ENSP00000245451:R211Q	R	-	2	0	BMP4	53487095	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.364000	0.46038	0.655000	0.94253	CGG		0.537	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		78	442	0	0	0	1	0	78	442					T	54417345	C	T	54417345	3	4	79	1	0	0	0	0	1	0	0	0	1464	652	23	1	598	1	BMP4	14	54417345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	858741	54417345	52932195	14664	24981											
BMP4	652	broad.mit.edu	37	chr14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtgcccaggcaccActtctgctgggggcttcata	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	190					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(568-570)gTg>gCg		bone morphogenetic protein 4							66	64	65					14																	54417408		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417408A>G	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.569T>C	14.37:g.54417408A>G	ENSP00000245451:p.Val190Ala					BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A	p.V190A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	962	-			190					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.569T>C	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642132	0.00799	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.71103	-0.54;-0.54	5.2	-1.61	0.08399	Transforming growth factor-beta, N-terminal (1);	1.161200	0.06292	N	0.699329	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.12430	T	0.62	.	5.6727	0.17731	0.3354:0.1821:0.4825:0.0	.	190	P12644	BMP4_HUMAN	A	190	ENSP00000245451:V190A;ENSP00000394165:V190A	ENSP00000245451:V190A	V	-	2	0	BMP4	53487158	0.002000	0.14202	0.783000	0.31826	0.852000	0.48524	-0.047000	0.11963	-0.143000	0.11334	-0.408000	0.06270	GTG		0.567	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		75	297	0	0	0	1	0	75	297					G	54417408	A	G	54417408	3	3	79	1	0	0	0	0	1	0	0	0	1464	159	6	4	661	4	BMP4	14	54417408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	54417408	52932132	14665	24982											
CDKN3	1033	broad.mit.edu	37	chr14	54882622	54882622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccctttcagctgctAtggaggacttgggagatctt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54882622A>G	ENST00000335183.6	+	6	536	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000556102.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C	NM_005192.3	NP_005183.2	Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						TTCAGCTGCTATGGAGGACTT	0.343																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000556102.2																			0				breast(2)|stomach(1)	3						c.(421-423)tAt>tGt		cyclin-dependent kinase inhibitor 3							148	137	141					14																	54882622		2203	4300	6503	SO:0001583	missense	1033				cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr14:54882622A>G	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1791	protein-coding gene	gene with protein product	"kinase associated phosphatase", "cyclin-dependent kinase inhibitor", "CDK2-associated dual specificity phosphatase"	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000335183.6:c.422A>G	14.37:g.54882622A>G	ENSP00000335357:p.Tyr141Cys					CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000335183.6_Missense_Mutation_p.Y141C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C	p.Y141C			Q16667	CDKN3_HUMAN			6	488	+			141						Missense_Mutation	SNP	ENST00000335183.6	37	c.422A>G	CCDS9716.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320151	0.60634	.	.	ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.29	5.29	0.74685	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121890	0.56097	D	0.000021	T	0.71358	0.3330	M	0.77103	2.36	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.939;0.994	T	0.73307	-0.4024	10	0.48119	T	0.1	-19.5529	13.1044	0.59239	1.0:0.0:0.0:0.0	.	101;141	Q16667-2;Q16667	.;CDKN3_HUMAN	C	141;101;141;141;136;95	ENSP00000335357:Y141C;ENSP00000415333:Y101C;ENSP00000396451:Y141C;ENSP00000450711:Y141C;ENSP00000378944:Y95C	ENSP00000335357:Y141C	Y	+	2	0	CDKN3	53952372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.969000	0.49232	2.225000	0.72522	0.459000	0.35465	TAT		0.343	CDKN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276893.2			8	503	0	0	0	1	0	8	503					G	54882622	A	G	54882622	3	3	79	1	0	0	0	0	1	0	0	0	3176	449	16	4	444	4	CDKN3	14	54882622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	465214	54882622	52466918	14666	24983											
CGRRF1	10668	broad.mit.edu	37	chr14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtttgttggaaaaggtggGactctctgaaagtgaagttg	14	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	258					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(772-774)gGa>gAa		cell growth regulator with ring finger domain 1							102	96	98					14																	55004875		2203	4300	6503	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004875G>A	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.773G>A	14.37:g.55004875G>A	ENSP00000216420:p.Gly258Glu					CGRRF1_ENST00000557512.1_3'UTR	p.G258E	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			6	905	+			258					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.773G>A	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776869	0.16120	.	.	ENSG00000100532	ENST00000216420	T	0.27104	1.69	5.31	4.4	0.53042	.	0.255488	0.37809	N	0.001938	T	0.34600	0.0903	L	0.50333	1.59	0.45554	D	0.998509	D	0.63880	0.993	P	0.52793	0.709	T	0.05305	-1.0893	10	0.24483	T	0.36	-17.8994	15.2224	0.73324	0.0:0.0:0.8583:0.1417	.	258	Q99675	CGRF1_HUMAN	E	258	ENSP00000216420:G258E	ENSP00000216420:G258E	G	+	2	0	CGRRF1	54074625	1.000000	0.71417	0.078000	0.20375	0.016000	0.09150	8.490000	0.90464	1.425000	0.47237	0.591000	0.81541	GGA		0.423	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		61	309	0	0	0	1	0	61	309					A	55004875	G	A	55004875	3	1	79	1	0	0	0	0	1	0	0	0	3315	1174	41	2	795	2	CGRRF1	14	55004875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122253	55004875	52344665	14667	24984											
GCH1	2643	broad.mit.edu	37	chr14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagtcacacttacctcGcaagtttgctgaggccaagg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000491895.2	-	3	694	c.506C>T	c.(505-507)gCg>gTg	p.A169V	RNU6ATAC9P_ENST00000516210.1_RNA|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	169					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A169E(1)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438																																					Pancreas(198;1245 2204 4807 21567 38372)	ENST00000491895.2																			1	Substitution - Missense(1)	p.A169E(1)	endometrium(1)	endometrium(2)|lung(7)|skin(2)	11						c.(505-507)gCg>gTg		GTP cyclohydrolase 1							125	108	114					14																	55326402		2203	4300	6503	SO:0001583	missense	2643				dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	g.chr14:55326402G>A	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"dopa-responsive dystonia"	600225	"dystonia 14"	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.506C>T	14.37:g.55326402G>A	ENSP00000419045:p.Ala169Val					GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V	p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN			3	694	-			169					Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	c.506C>T	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608521	0.87258	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8	5.1	4.19	0.49359	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.051000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.85462	2.755	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;0.937;0.962	D	0.97246	0.9894	10	0.66056	D	0.02	.	14.7219	0.69314	0.0:0.1456:0.8544:0.0	.	169;169;169;169	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	V	169	ENSP00000378890:A169V;ENSP00000444011:A169V;ENSP00000419045:A169V;ENSP00000445246:A169V	ENSP00000378890:A169V	A	-	2	0	GCH1	54396152	1.000000	0.71417	0.870000	0.34147	0.796000	0.44982	9.203000	0.95033	1.339000	0.45563	0.561000	0.74099	GCG		0.438	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			41	164	0	0	0	1	0	41	164					A	55326402	G	A	55326402	3	1	79	1	0	0	0	0	1	0	0	0	6319	1087	38	1	362	1	GCH1	14	55326402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321527	55326402	52023138	14668	24985											
WDHD1	11169	broad.mit.edu	37	chr14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgctcatcattataGcagcgaataattccaataga	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	457					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1369-1371)tgC>tgA		WD repeat and HMG-box DNA binding protein 1							140	116	124					14																	55455901		2203	4300	6503	SO:0001587	stop_gained	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55455901G>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1371C>A	14.37:g.55455901G>T	ENSP00000353793:p.Cys457*					WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron	p.C457*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			13	1436	-			457					C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	c.1371C>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	41	8.669991	0.98908	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	5.28	5.28	0.74379	.	0.099841	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3974	9.0848	0.36574	0.2059:0.0:0.7941:0.0	.	.	.	.	X	457;334	.	ENSP00000353793:C457X	C	-	3	2	WDHD1	54525651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.181000	0.42547	2.465000	0.83290	0.591000	0.81541	TGC		0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		47	207	1	0	8.20599e-20	1	9.16906e-20	47	207					T	55455901	G	T	55455901	4	4	79	1	0	0	0	0	0	1	0	0	17325	963	34	3	2074	3	WDHD1	14	55455901	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129499	55455901	51893639	14669	24986											
WDHD1	11169	broad.mit.edu	37	chr14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaagatcattataatcCttttccactctgctagatac	3	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N|WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	321					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAATCCTTTTCCACTC	0.274																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(961-963)aaG>aaT		WD repeat and HMG-box DNA binding protein 1							61	58	59					14																	55462511		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55462511C>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.963G>T	14.37:g.55462511C>A	ENSP00000353793:p.Lys321Asn					WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N	p.K321N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			11	1028	-			321					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.963G>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724696	0.30593	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.64803	0.26;-0.12	4.99	1.88	0.25563	.	0.204668	0.49916	N	0.000137	T	0.46444	0.1393	L	0.49350	1.555	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.28554	-1.0040	10	0.26408	T	0.33	.	2.1706	0.03848	0.2356:0.4012:0.0:0.3632	.	321	O75717	WDHD1_HUMAN	N	321;198	ENSP00000353793:K321N;ENSP00000391049:K198N	ENSP00000353793:K321N	K	-	3	2	WDHD1	54532261	0.933000	0.31639	1.000000	0.80357	0.941000	0.58515	-0.103000	0.10940	0.662000	0.31006	0.561000	0.74099	AAG		0.274	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		24	109	1	0	4.72057e-08	1	4.92026e-08	24	109					A	55462511	C	A	55462511	3	1	79	1	0	0	0	0	1	0	0	0	17325	680	24	3	2490	3	WDHD1	14	55462511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6610	55462511	51887029	14670	24987											
SOCS4	122809	broad.mit.edu	37	chr14	55510090	55510090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caataaagaattgtagtagtCggcactcttcagggcttccg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55510090C>T	ENST00000395472.2	+	2	663	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W|SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTGTAGTAGTCGGCACTCTTC	0.428																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(331-333)Cgg>Tgg		suppressor of cytokine signaling 4							79	81	80					14																	55510090		2203	4299	6502	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510090C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.331C>T	14.37:g.55510090C>T	ENSP00000378855:p.Arg111Trp					SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W	p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	663	+			111						Missense_Mutation	SNP	ENST00000395472.2	37	c.331C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855838	0.71834	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33438	1.41;1.41;1.41	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.50684	0.1630	L	0.44542	1.39	0.51233	D	0.999913	D	0.89917	1.0	D	0.76071	0.987	T	0.49597	-0.8923	10	0.72032	D	0.01	-13.5262	19.4425	0.94827	0.0:1.0:0.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	W	111	ENSP00000378855:R111W;ENSP00000452522:R111W;ENSP00000341327:R111W	ENSP00000341327:R111W	R	+	1	2	SOCS4	54579843	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	3.459000	0.53021	2.594000	0.87642	0.655000	0.94253	CGG		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			10	560	0	0	0	1	0	10	560					T	55510090	C	T	55510090	3	4	79	1	0	0	0	0	1	0	0	0	14966	875	31	1	333	1	SOCS4	14	55510090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47579	55510090	51839450	14671	24988											
SOCS4	122809	broad.mit.edu	37	chr14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaccagaacagcaatgCtagtaacaggatgggaacat	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*|SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	440					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(1318-1320)tgC>tgA		suppressor of cytokine signaling 4							24	23	23					14																	55511079		2174	4284	6458	SO:0001587	stop_gained	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55511079C>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1320C>A	14.37:g.55511079C>A	ENSP00000378855:p.Cys440*					SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1652	+			440						Nonsense_Mutation	SNP	ENST00000395472.2	37	c.1320C>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594096	0.66219	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	4.96	0.996	0.19844	.	0.537537	0.16649	N	0.205289	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5584	0.22474	0.1332:0.6474:0.0:0.2194	.	.	.	.	X	440	.	ENSP00000341327:C440X	C	+	3	2	SOCS4	54580832	0.786000	0.28738	0.653000	0.29593	0.553000	0.35397	0.658000	0.24979	0.326000	0.23384	0.655000	0.94253	TGC		0.308	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			36	117	1	0	6.90743e-12	1	7.39364e-12	36	117					A	55511079	C	A	55511079	4	1	79	1	0	0	0	0	0	1	0	0	14966	805	28	3	1322	3	SOCS4	14	55511079	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	55511079	51838461	14672	24989											
LGALS3	3958	broad.mit.edu	37	chr14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgccactggcccctatGgcgcccctgctgggccactg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000254301.9	+	3	583	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	108	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGCCCCTATGGCGCCCCTGC	0.612																																						ENST00000254301.9																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(322-324)Ggc>Tgc		lectin, galactoside-binding, soluble, 3							21	23	22					14																	55605066		1581	3657	5238	SO:0001583	missense	3958				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	g.chr14:55605066G>T	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.322G>T	14.37:g.55605066G>T	ENSP00000254301:p.Gly108Cys					LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C|LGALS3_ENST00000553755.1_3'UTR	p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN			3	583	+			108			8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	c.322G>T	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201404	0.22121	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.09723	3.61;2.95	5.58	3.66	0.41972	.	2.278500	0.01719	N	0.028192	T	0.15955	0.0384	N	0.14661	0.345	0.19775	N	0.999956	D	0.71674	0.998	P	0.58013	0.831	T	0.30475	-0.9977	10	0.39692	T	0.17	-2.8531	8.0152	0.30376	0.2051:0.0:0.7949:0.0	.	108	P17931	LEG3_HUMAN	C	108	ENSP00000254301:G108C;ENSP00000451381:G108C	ENSP00000254301:G108C	G	+	1	0	LGALS3	54674819	0.466000	0.25823	0.236000	0.24074	0.389000	0.30415	1.162000	0.31786	1.266000	0.44231	0.655000	0.94253	GGC		0.612	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		9	194	1	0	0.0477658	1	0.0478703	9	194					T	55605066	G	T	55605066	3	4	79	1	0	0	0	0	1	0	0	0	8774	1348	47	3	328	3	LGALS3	14	55605066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93987	55605066	51744474	14673	24990											
DLGAP5	9787	broad.mit.edu	37	chr14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtctcctttatacctcGtttatattcacaatcatcaa	4	10	4	0	rs565083852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	496					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTATACCTCGTTTATATTCA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		16074	0.001		0.0	False		,,,				2504	0.0					ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1486-1488)Cga>Tga		discs, large (Drosophila) homolog-associated protein 5							116	105	109					14																	55636179		2203	4300	6503	SO:0001587	stop_gained	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55636179G>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1486C>T	14.37:g.55636179G>A	ENSP00000247191:p.Arg496*					DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			12	1702	-			496					A8MTM6|B4DRM8|Q86T11|Q8NG58	Nonsense_Mutation	SNP	ENST00000247191.2	37	c.1486C>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531200	0.85706	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	5.85	2.93	0.34026	.	0.242538	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1119	0.42568	0.1297:0.1155:0.7548:0.0	.	.	.	.	X	496	.	ENSP00000247191:R496X	R	-	1	2	DLGAP5	54705932	0.996000	0.38824	0.101000	0.21167	0.009000	0.06853	2.861000	0.48380	0.897000	0.36392	-0.140000	0.14226	CGA		0.363	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		65	306	0	0	0	1	0	65	306					A	55636179	G	A	55636179	4	1	79	1	0	0	0	0	0	1	0	0	4579	1153	40	1	1181	1	DLGAP5	14	55636179	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31113	55636179	51713361	14674	24991											
FBXO34	55030	broad.mit.edu	37	chr14	55817495	55817495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatcccaccagtgtagTaacaggataggatctatgaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(385-387)agT>agC		F-box protein 34							46	50	49					14																	55817495		2202	4300	6502	SO:0001819	synonymous_variant	55030							g.chr14:55817495T>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.387T>C	14.37:g.55817495T>C						FBXO34_ENST00000440021.1_Silent_p.S129S|FBXO34_ENST00000555087.1_3'UTR	p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	632	+			129					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.387T>C	CCDS32086.1																																																																																				0.413	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			54	183	0	0	0	1	0	54	183					C	55817495	T	C	55817495	2	2	79	1	0	0	0	0	0	0	0	1	5769	1635	57	4		4	FBXO34	14	55817495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181316	55817495	51532045	14675	24992											
FBXO34	55030	broad.mit.edu	37	chr14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaggaataacagcttcCgtcgaaatgtgggcagagta	11	8	1	1	rs377640813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	309										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAACAGCTTCCGTCGAAATGT	0.537																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(925-927)Cgt>Tgt		F-box protein 34		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113	111	112		925,925	2.7	0.4	14		112	0,8600		0,0,4300	no	missense,missense	FBXO34	NM_017943.3,NM_152231.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	309/712,309/712	55818033	1,13005	2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818033C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.925C>T	14.37:g.55818033C>T	ENSP00000313159:p.Arg309Cys					FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1170	+			309					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.925C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481727	0.26598	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.27104	1.69;1.69	5.48	2.7	0.31948	.	0.643718	0.14116	N	0.340394	T	0.23766	0.0575	M	0.72894	2.215	0.51767	D	0.999938	B	0.32939	0.391	B	0.23419	0.046	T	0.06356	-1.0831	10	0.87932	D	0	-6.6979	5.6371	0.17542	0.1376:0.6488:0.0:0.2136	.	309	Q9NWN3	FBX34_HUMAN	C	309	ENSP00000313159:R309C;ENSP00000394117:R309C	ENSP00000313159:R309C	R	+	1	0	FBXO34	54887786	1.000000	0.71417	0.370000	0.25965	0.046000	0.14306	3.229000	0.51278	0.436000	0.26393	0.650000	0.86243	CGT		0.537	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			22	663	0	0	0	1	0	22	663					T	55818033	C	T	55818033	3	4	79	1	0	0	0	0	1	0	0	0	5769	652	23	1	927	1	FBXO34	14	55818033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	55818033	51531507	14676	24993											
FBXO34	55030	broad.mit.edu	37	chr14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttttttttgccacctgGtcagcacttgtcagactatt	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1462-1464)gGt>gAt		F-box protein 34							92	91	91					14																	55818571		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818571G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1463G>A	14.37:g.55818571G>A	ENSP00000313159:p.Gly488Asp					FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1708	+			488					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1463G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495072	0.12762	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.19	1.27	0.21489	.	0.678775	0.13082	N	0.415215	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	0.999995	B	0.17667	0.023	B	0.16722	0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-21.5041	5.5875	0.17283	0.2199:0.3356:0.4444:0.0	.	488	Q9NWN3	FBX34_HUMAN	D	488	ENSP00000313159:G488D;ENSP00000394117:G488D	ENSP00000313159:G488D	G	+	2	0	FBXO34	54888324	0.584000	0.26766	0.391000	0.26233	0.703000	0.40648	0.752000	0.26362	0.421000	0.25980	0.655000	0.94253	GGT		0.468	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			112	502	0	0	0	1	0	112	502					A	55818571	G	A	55818571	3	1	79	1	0	0	0	0	1	0	0	0	5769	1261	44	2	1465	2	FBXO34	14	55818571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	55818571	51530969	14677	24994											
KIAA0831	22863	broad.mit.edu	37	chr14	55836433	55836433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgcgatgggtggggaCgcctgggtgctctgactctg	17	11	2	1	rs147545593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836433C>T	ENST00000247178.5	-	10	1418	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	461	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGTGGGGACGCCTGGGTGC	0.577																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1381-1383)gcG>gcA		autophagy related 14		C		0,4406		0,0,2203	106	96	99		1383	-1.7	0.1	14	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATG14	NM_014924.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		461/493	55836433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55836433C>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1383G>A	14.37:g.55836433C>T							p.A461A	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			10	1418	-			461					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.1383G>A	CCDS32087.1																																																																																				0.577	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		75	339	0	0	0	1	0	75	339					T	55836433	C	T	55836433	2	4	79	1	0	0	0	0	0	0	0	1	8225	523	19	1		1	KIAA0831	14	55836433	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17862	55836433	51513107	14678	24995											
KIAA0831	22863	broad.mit.edu	37	chr14	55836605	55836605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgggatccacaaattccatgGactcctcaaggtctgctcgt	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836605G>T	ENST00000247178.5	-	10	1246	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	404					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAATTCCATGGACTCCTCAAG	0.512																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1210-1212)tCc>tAc		autophagy related 14							82	82	82					14																	55836605		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55836605G>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1211C>A	14.37:g.55836605G>T	ENSP00000247178:p.Ser404Tyr						p.S404Y	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			10	1246	-			404					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.1211C>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170899	0.94807	.	.	ENSG00000126775	ENST00000247178	T	0.37235	1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57648	-0.7775	10	0.87932	D	0	-16.8472	19.9983	0.97395	0.0:0.0:1.0:0.0	.	404	Q6ZNE5	BAKOR_HUMAN	Y	404	ENSP00000247178:S404Y	ENSP00000247178:S404Y	S	-	2	0	ATG14	54906358	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.841000	0.99482	2.724000	0.93272	0.561000	0.74099	TCC		0.512	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		74	385	1	0	8.27458e-37	1	9.91862e-37	74	385					T	55836605	G	T	55836605	3	4	79	1	0	0	0	0	1	0	0	0	8225	1174	41	3	271	3	KIAA0831	14	55836605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172	55836605	51512935	14679	24996											
KIAA0831	22863	broad.mit.edu	37	chr14	55844555	55844555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcctaggtgttcagagCttggactgaccaggtacatt	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55844555C>T	ENST00000247178.5	-	9	1189	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	385					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTGTTCAGAGCTTGGACTGAC	0.358																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1153-1155)aGc>aAc		autophagy related 14							97	88	91					14																	55844555		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55844555C>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1154G>A	14.37:g.55844555C>T	ENSP00000247178:p.Ser385Asn						p.S385N	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			9	1189	-			385					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.1154G>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	c	2.918	-0.223818	0.06061	.	.	ENSG00000126775	ENST00000247178	T	0.31510	1.49	5.09	-0.951	0.10369	.	0.635584	0.18055	N	0.153126	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.18710	T	0.47	-6.6774	9.6758	0.40039	0.0:0.3217:0.0:0.6783	.	385	Q6ZNE5	BAKOR_HUMAN	N	385	ENSP00000247178:S385N	ENSP00000247178:S385N	S	-	2	0	ATG14	54914308	0.948000	0.32251	0.020000	0.16555	0.523000	0.34469	0.804000	0.27098	-0.303000	0.08856	-0.469000	0.05056	AGC		0.358	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		27	149	0	0	0	1	0	27	149					T	55844555	C	T	55844555	3	4	79	1	0	0	0	0	1	0	0	0	8225	797	28	2	332	2	KIAA0831	14	55844555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7950	55844555	51504985	14680	24997											
KTN1	3895	broad.mit.edu	37	chr14	56103175	56103175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaataccaaggttcaactAcaagaagctgagagaaggtg	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000395314.3	+	10	1538	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	490					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1468-1470)ctA>ctG		kinectin 1 (kinesin receptor)							75	74	74					14																	56103175		2203	4300	6503	SO:0001819	synonymous_variant	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56103175A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1470A>G	14.37:g.56103175A>G						KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000395314.3_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L	p.L490L			Q86UP2	KTN1_HUMAN			9	1542	+			490					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.1470A>G	CCDS41957.1																																																																																				0.403	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			11	56	0	0	0	1	0	11	56					G	56103175	A	G	56103175	2	3	79	1	0	0	0	0	0	0	0	1	8616	378	14	4		4	KTN1	14	56103175	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	258620	56103175	51246365	14681	24998											
OTX2	5015	broad.mit.edu	37	chr14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccttgactataacctgaaGcctgagtataggtcatggga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000555006.1	-	4	953	c.545C>A	c.(544-546)gCt>gAt	p.A182D	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.A190D|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2	182					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(568-570)gCt>gAt		orthodenticle homeobox 2							119	109	112					14																	57268778		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268778G>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.545C>A	14.37:g.57268778G>T	ENSP00000452336:p.Ala182Asp					OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|OTX2_ENST00000555006.1_Missense_Mutation_p.A182D	p.A190D	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	845	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		182					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.569C>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010981	0.54361	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	6.06	5.17	0.71159	Transcription factor Otx, C-terminal (1);	0.000000	0.42053	D	0.000764	D	0.91915	0.7440	M	0.78049	2.395	0.80722	D	1	P;P	0.49696	0.927;0.775	P;P	0.51742	0.678;0.67	D	0.92564	0.6060	10	0.66056	D	0.02	.	14.119	0.65175	0.0723:0.0:0.9277:0.0	.	190;182	F1T0D1;P32243	.;OTX2_HUMAN	D	190;182;182;190	ENSP00000343819:A190D;ENSP00000386185:A182D;ENSP00000452336:A182D;ENSP00000451357:A190D	ENSP00000343819:A190D	A	-	2	0	OTX2	56338531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.576000	0.49790	0.655000	0.94253	GCT		0.522	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		75	267	1	0	4.14589e-37	1	4.97555e-37	75	267					T	57268778	G	T	57268778	3	4	79	1	0	0	0	0	1	0	0	0	11363	971	34	3	328	3	OTX2	14	57268778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165603	57268778	50080762	14682	24999											
OTX2	5015	broad.mit.edu	37	chr14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggttgcttaagataagAcatcatgctaaggttgtttg	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000555006.1	-	2	415	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000339475.5_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	3					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(7-9)Tct>Cct		orthodenticle homeobox 2							120	102	108					14																	57272168		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57272168A>G	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.7T>C	14.37:g.57272168A>G	ENSP00000452336:p.Ser3Pro					OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000555006.1_Missense_Mutation_p.S3P	p.S3P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			3	283	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		3					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.7T>C	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028134	0.75390	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000554559;ENST00000555804	D;D;D;D;D	0.92545	-2.94;-2.88;-2.88;-3.06;-3.02	4.35	4.35	0.52113	.	0.000000	0.42294	D	0.000724	D	0.94308	0.8171	M	0.71296	2.17	0.41365	D	0.987455	D;D	0.60160	0.987;0.986	P;P	0.60949	0.828;0.881	D	0.94798	0.7968	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	3;3	F1T0D1;P32243	.;OTX2_HUMAN	P	3	ENSP00000343819:S3P;ENSP00000386185:S3P;ENSP00000452336:S3P;ENSP00000451357:S3P;ENSP00000451272:S3P	ENSP00000343819:S3P	S	-	1	0	OTX2	56341921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	1.947000	0.56498	0.528000	0.53228	TCT		0.562	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		24	114	0	0	0	1	0	24	114					G	57272168	A	G	57272168	3	3	79	1	0	0	0	0	1	0	0	0	11363	275	10	4	898	4	OTX2	14	57272168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3390	57272168	50077372	14683	25000											
EXOC5	10640	broad.mit.edu	37	chr14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttctgacattgttgCtctagtttctctactttcct	5	11	4	1	rs199805336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	68					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GACATTGTTGCTCTAGTTTCT	0.343																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(202-204)gaG>gaT		exocyst complex component 5							141	138	139					14																	57713495		1831	4082	5913	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57713495C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.204G>T	14.37:g.57713495C>A	ENSP00000389934:p.Glu68Asp					EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	p.E68D	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			3	563	-			68					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.204G>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945497	0.73672	.	.	ENSG00000070367	ENST00000413566;ENST00000340918;ENST00000556318	T;T	0.55588	0.69;0.51	5.17	-0.086	0.13683	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.68317	2.08	0.21064	N	0.999797	D;D	0.63880	0.99;0.993	D;D	0.73380	0.98;0.967	T	0.57300	-0.7835	10	0.09084	T	0.74	-13.5718	10.5882	0.45294	0.0:0.5358:0.0:0.4642	.	68;68	F8W9B8;O00471	.;EXOC5_HUMAN	D	68;68;13	ENSP00000389934:E68D;ENSP00000342100:E68D	ENSP00000342100:E68D	E	-	3	2	EXOC5	56783248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.963000	0.29293	0.024000	0.15214	0.650000	0.86243	GAG		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		20	434	1	0	4.35082e-09	1	4.56966e-09	20	434					A	57713495	C	A	57713495	3	1	79	1	0	0	0	0	1	0	0	0	5325	796	28	3	1986	3	EXOC5	14	57713495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441327	57713495	49636045	14684	25001											
MUDENG	55745	broad.mit.edu	37	chr14	57752979	57752979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattacacacttactggatgTtatgcagatcagcattcagt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57752979T>G	ENST00000261558.3	+	7	1738	c.1332T>G	c.(1330-1332)tgT>tgG	p.C444W	AP5M1_ENST00000431972.2_Missense_Mutation_p.C458W	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	444	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TTACTGGATGTTATGCAGATC	0.323																																						ENST00000261558.3																			0											c.(1330-1332)tgT>tgG		adaptor-related protein complex 5, mu 1 subunit							172	169	170					14																	57752979		2203	4297	6500	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57752979T>G	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1332T>G	14.37:g.57752979T>G	ENSP00000261558:p.Cys444Trp					AP5M1_ENST00000431972.2_Missense_Mutation_p.C458W	p.C444W	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			7	1738	+			444			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.1332T>G	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851156	0.71719	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50709	-0.8796	10	0.72032	D	0.01	.	15.8539	0.78960	0.0:0.0:0.0:1.0	.	444	Q9H0R1	MUDEN_HUMAN	W	444;458	ENSP00000261558:C444W;ENSP00000390531:C458W	ENSP00000261558:C444W	C	+	3	2	MUDENG	56822732	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.850000	0.48294	2.143000	0.66587	0.477000	0.44152	TGT		0.323	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		82	412	0	0	0	1	0	82	412					G	57752979	T	G	57752979	3	3	79	1	0	0	0	0	1	0	0	0	10024	1731	60	4	1358	4	MUDENG	14	57752979	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39484	57752979	49596561	14685	25002											
SLC35F4	341880	broad.mit.edu	37	chr14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactaaaatattatgtcctgGcttccatacctcctgttcct	4	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000339762.6	-	1	108	c.109C>A	c.(109-111)Cca>Aca	p.P37T	SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	37					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATGTCCTGGCTTCCATACC	0.433																																						ENST00000339762.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(109-111)Cca>Aca		solute carrier family 35, member F4							122	122	122					14																	58063507		1960	4170	6130	SO:0001583	missense	341880							g.chr14:58063507G>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.109C>A	14.37:g.58063507G>T	ENSP00000342518:p.Pro37Thr					SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron	p.P37T							1	108	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.109C>A		.	.	.	.	.	.	.	.	.	.	G	9.591	1.126237	0.20959	.	.	ENSG00000151812	ENST00000339762	T	0.54866	0.55	4.28	2.44	0.29823	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36040	-0.9764	8	0.87932	D	0	.	5.848	0.18677	0.104:0.1966:0.6994:0.0	.	37	A4IF30	S35F4_HUMAN	T	37	ENSP00000342518:P37T	ENSP00000342518:P37T	P	-	1	0	SLC35F4	57133260	0.099000	0.21834	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	0.748000	0.32831	0.650000	0.86243	CCA		0.433	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		21	134	1	0	8.34094e-07	1	8.61956e-07	21	134					T	58063507	G	T	58063507	3	4	79	1	0	0	0	0	1	0	0	0	14641	1203	42	3	1488	3	SLC35F4	14	58063507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310528	58063507	49286033	14686	25003											
C14orf37	145407	broad.mit.edu	37	chr14	58605363	58605363	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgctgtggactcagcAccaggaaaagaagttgtcct	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(712-714)ggT>ggG		chromosome 14 open reading frame 37							105	90	95					14																	58605363		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605363A>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.714T>G	14.37:g.58605363A>C						C14orf37_ENST00000334342.5_5'UTR	p.G238G	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	908	-			238					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.714T>G	CCDS32089.1																																																																																				0.502	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		78	313	0	0	0	1	0	78	313					C	58605363	A	C	58605363	2	2	79	1	0	0	0	0	0	0	0	1	1776	146	6	4		4	C14orf37	14	58605363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	541856	58605363	48744177	14687	25004											
C14orf37	145407	broad.mit.edu	37	chr14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttcagttgcaaatgatTgattatccatatacttcaga	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	190						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(568-570)cAa>cGa		chromosome 14 open reading frame 37							98	95	96					14																	58605508		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605508T>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.569A>G	14.37:g.58605508T>C	ENSP00000267485:p.Gln190Arg					C14orf37_ENST00000334342.5_5'UTR	p.Q190R	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	763	-			190					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.569A>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622137	0.46840	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34859	1.34	6.17	1.06	0.20224	.	0.540195	0.18131	N	0.150725	T	0.43656	0.1257	M	0.64997	1.995	0.09310	N	1	P;D;P;P	0.59767	0.919;0.986;0.919;0.919	P;P;P;P	0.55391	0.59;0.775;0.59;0.59	T	0.23547	-1.0185	10	0.40728	T	0.16	-0.4011	7.364	0.26762	0.0:0.081:0.4972:0.4217	.	228;190;190;190	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	R	190;228	ENSP00000267485:Q190R	ENSP00000267485:Q190R	Q	-	2	0	C14orf37	57675261	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.207000	0.17395	0.158000	0.19367	0.533000	0.62120	CAA		0.393	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		77	367	0	0	0	1	0	77	367					C	58605508	T	C	58605508	3	2	79	1	0	0	0	0	1	0	0	0	1776	1812	63	4	1783	4	C14orf37	14	58605508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	58605508	48744032	14688	25005											
C14orf37	145407	broad.mit.edu	37	chr14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgttaatcgagaatgCtttatttaatgatgttgccg	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	89						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(265-267)Gca>Tca		chromosome 14 open reading frame 37							140	139	139					14																	58605812		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605812C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.265G>T	14.37:g.58605812C>A	ENSP00000267485:p.Ala89Ser					C14orf37_ENST00000334342.5_5'UTR	p.A89S	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	459	-			89					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.265G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341151	0.41498	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	3.98	0.46160	.	0.702903	0.13150	N	0.409977	T	0.21227	0.0511	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.41848	0.435;0.763;0.435;0.435	B;B;B;B	0.36608	0.124;0.229;0.124;0.124	T	0.05550	-1.0878	10	0.21540	T	0.41	-0.5202	10.1614	0.42853	0.0:0.8479:0.0:0.1521	.	127;89;89;89	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	S	89;127	ENSP00000267485:A89S	ENSP00000267485:A89S	A	-	1	0	C14orf37	57675565	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.728000	0.26013	0.784000	0.33661	0.655000	0.94253	GCA		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		19	463	1	0	1.33834e-09	1	1.40959e-09	19	463					A	58605812	C	A	58605812	3	1	79	1	0	0	0	0	1	0	0	0	1776	797	28	3	2087	3	C14orf37	14	58605812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	58605812	48743728	14689	25006											
ACTR10	55860	broad.mit.edu	37	chr14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttgtggaaattctttttGaacaagataatgaagagcaa	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	272					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(814-816)Gaa>Aaa		actin-related protein 10 homolog (S. cerevisiae)							84	91	89					14																	58697142		2203	4294	6497	SO:0001583	missense	55860					cytoplasm		g.chr14:58697142G>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.814G>A	14.37:g.58697142G>A	ENSP00000254286:p.Glu272Lys						p.E272K	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			11	894	+			272					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.814G>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730951	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94330	-3.4	5.74	5.74	0.90152	.	0.088942	0.85682	D	0.000000	D	0.91885	0.7431	L	0.39692	1.235	0.80722	D	1	B;B	0.27910	0.193;0.193	B;B	0.34536	0.185;0.129	D	0.89792	0.3969	10	0.87932	D	0	-8.36	18.9694	0.92709	0.0:0.0:1.0:0.0	.	272;272	Q53H79;Q9NZ32	.;ARP10_HUMAN	K	272	ENSP00000254286:E272K	ENSP00000254286:E272K	E	+	1	0	ACTR10	57766895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.176000	0.94839	2.731000	0.93534	0.549000	0.68633	GAA		0.318	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			72	354	0	0	0	1	0	72	354					A	58697142	G	A	58697142	3	1	79	1	0	0	0	0	1	0	0	0	208	1291	45	2	856	2	ACTR10	14	58697142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91330	58697142	48652398	14690	25007											
ARID4A	5926	broad.mit.edu	37	chr14	58811415	58811415	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattttatctttacagccTgaggaagaacttgatcctga	7	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	303					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTACAGCCTGAGGAAGAAC	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(907-909)ccT>ccG		AT rich interactive domain 4A (RBP1-like)							52	50	51					14																	58811415		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58811415T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.909T>G	14.37:g.58811415T>G						ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P|ARID4A_ENST00000348476.3_Silent_p.P303P	p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			12	1282	+			303					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.909T>G	CCDS9732.1																																																																																				0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		29	166	0	0	0	1	0	29	166					G	58811415	T	G	58811415	2	3	79	1	0	0	0	0	0	0	0	1	919	1567	55	4		4	ARID4A	14	58811415	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114273	58811415	48538125	14691	25008											
ARID4A	5926	broad.mit.edu	37	chr14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccacaaaatgtacttGctgtagaatgcaggtgataa	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1253					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGTACTTGCTGTAGAATG	0.458																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3757-3759)Gct>Act		AT rich interactive domain 4A (RBP1-like)							154	121	132					14																	58838690		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58838690G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3757G>A	14.37:g.58838690G>A	ENSP00000347602:p.Ala1253Thr					ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|RP11-517O13.3_ENST00000556390.1_RNA	p.A1253T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			24	4130	+			1253					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3757G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041641	0.75732	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.46;2.46;2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.10154	-1.0642	10	0.72032	D	0.01	-19.7907	19.087	0.93206	0.0:0.0:1.0:0.0	.	1184;1253;1199	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1253;1184;1199;1184	ENSP00000347602:A1253T;ENSP00000344556:A1184T;ENSP00000378597:A1199T;ENSP00000397368:A1184T	ENSP00000344556:A1184T	A	+	1	0	ARID4A	57908443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GCT		0.458	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		26	98	0	0	0	1	0	26	98					A	58838690	G	A	58838690	3	1	79	1	0	0	0	0	1	0	0	0	919	1319	46	2	3847	2	ARID4A	14	58838690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27275	58838690	48510850	14692	25009											
KIAA0586	9786	broad.mit.edu	37	chr14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggaacaagcagtggcGccctccagctttttgttgat	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000556134.1	+	22	3194	c.2920G>A	c.(2920-2922)Gcc>Acc	p.A974T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A945T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	974					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2833-2835)Gcc>Acc		KIAA0586							48	46	47					14																	58949251		1850	4102	5952	SO:0001583	missense	9786							g.chr14:58949251G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2920G>A	14.37:g.58949251G>A	ENSP00000452351:p.Ala974Thr					KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A974T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T	p.A945T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			22	3091	+			913					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.2833G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643865	0.29246	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.9	1.72	0.24424	.	0.835333	0.10542	N	0.662544	T	0.38878	0.1057	M	0.72479	2.2	0.09310	N	1	B;B;B;B;B;B	0.32203	0.066;0.066;0.017;0.004;0.116;0.36	B;B;B;B;B;B	0.17722	0.007;0.013;0.003;0.002;0.013;0.019	T	0.16305	-1.0407	10	0.40728	T	0.16	.	11.0398	0.47825	0.272:0.0:0.728:0.0	.	849;849;1042;913;974;945	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1042;974;945;913;849	ENSP00000346359:A1042T;ENSP00000452351:A974T;ENSP00000399427:A945T;ENSP00000261244:A913T	ENSP00000261244:A913T	A	+	1	0	KIAA0586	58019004	1.000000	0.71417	0.016000	0.15963	0.200000	0.23975	2.792000	0.47837	0.323000	0.23307	-0.792000	0.03331	GCC		0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		26	120	0	0	0	1	0	26	120					A	58949251	G	A	58949251	3	1	79	1	0	0	0	0	1	0	0	0	8216	1087	38	1	2815	1	KIAA0586	14	58949251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110561	58949251	48400289	14693	25010											
KIAA0586	9786	broad.mit.edu	37	chr14	58953763	58953763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctaccccacagcctacGcctccttgctcaccttcatc	4	21	2	0	rs369590767		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58953763G>A	ENST00000556134.1	+	23	3412	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.T1017T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1046					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCCTACGCCTCCTTGCT	0.413																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3049-3051)acG>acA		KIAA0586		G		0,3834		0,0,1917	99	95	96		2955	-2.6	1	14		96	2,8258		0,2,4128	no	coding-synonymous	KIAA0586	NM_014749.3		0,2,6045	AA,AG,GG		0.0242,0.0,0.0165		985/1473	58953763	2,12092	1917	4130	6047	SO:0001819	synonymous_variant	9786							g.chr14:58953763G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3138G>A	14.37:g.58953763G>A						KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Silent_p.T1046T|KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T	p.T1017T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			23	3309	+			985					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3051G>A	CCDS58321.1																																																																																				0.413	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		13	382	0	0	0	1	0	13	382					A	58953763	G	A	58953763	2	1	79	1	0	0	0	0	0	0	0	1	8216	1074	38	1		1	KIAA0586	14	58953763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4512	58953763	48395777	14694	25011											
DACT1	51339	broad.mit.edu	37	chr14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagaacatcttgctgctaaGaaagcaattggtaggtcgtg	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000335867.4	+	1	359	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000541264.2_5'Flank|DACT1_ENST00000395153.3_Missense_Mutation_p.R112K|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	112	Required for self-association. {ECO:0000250}.				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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(334-336)aGa>aAa		dishevelled-binding antagonist of beta-catenin 1							30	32	31					14																	59105255		1973	4143	6116	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59105255G>A	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.335G>A	14.37:g.59105255G>A	ENSP00000337439:p.Arg112Lys					DACT1_ENST00000395151.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000335867.4_Missense_Mutation_p.R112K	p.R112K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			1	482	+			112					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.335G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043459	0.07452	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.44482	0.92;0.92	3.3	3.3	0.37823	.	0.070956	0.49916	D	0.000127	T	0.22399	0.0540	L	0.31420	0.93	0.80722	D	1	B;B	0.31318	0.079;0.319	B;B	0.26416	0.039;0.069	T	0.08166	-1.0735	10	0.02654	T	1	-9.7086	8.7631	0.34687	0.107:0.0:0.893:0.0	.	112;112	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	112	ENSP00000378582:R112K;ENSP00000337439:R112K	ENSP00000337439:R112K	R	+	2	0	DACT1	58175008	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	4.141000	0.58038	1.673000	0.50895	0.313000	0.20887	AGA		0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		16	94	0	0	0	1	0	16	94					A	59105255	G	A	59105255	3	1	79	1	0	0	0	0	1	0	0	0	4233	942	33	2	337	2	DACT1	14	59105255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151492	59105255	48244285	14695	25012											
DACT1	51339	broad.mit.edu	37	chr14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatttaattcccttgatGtcattgcagatgtgaatccc	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000335867.4	+	4	760	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_ENST00000541264.2_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	246					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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468																																						ENST00000335867.4																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(736-738)Gtc>Atc		dishevelled-binding antagonist of beta-catenin 1							161	147	152					14																	59112077		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112077G>A	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.736G>A	14.37:g.59112077G>A	ENSP00000337439:p.Val246Ile					DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000395153.3_Intron	p.V246I			Q9NYF0	DACT1_HUMAN			4	760	+			246					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.736G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153085	0.38021	.	.	ENSG00000165617	ENST00000335867	T	0.44482	0.92	5.71	4.8	0.61643	.	0.288933	0.33438	N	0.004919	T	0.40094	0.1103	M	0.65975	2.015	0.80722	D	1	B	0.28350	0.208	B	0.25759	0.063	T	0.32693	-0.9897	10	0.08179	T	0.78	-18.6973	16.529	0.84353	0.0:0.1309:0.8691:0.0	.	246	Q9NYF0	DACT1_HUMAN	I	246	ENSP00000337439:V246I	ENSP00000337439:V246I	V	+	1	0	DACT1	58181830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.382000	0.46385	0.563000	0.77884	GTC		0.468	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		75	377	0	0	0	1	0	75	377					A	59112077	G	A	59112077	3	1	79	1	0	0	0	0	1	0	0	0	4233	1377	48	2	750	2	DACT1	14	59112077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6822	59112077	48237463	14696	25013											
DACT1	51339	broad.mit.edu	37	chr14	59112781	59112781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccctaaggaaagcgctcaGctctcaggggcctctccaaa	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112781G>T	ENST00000335867.4	+	4	1464	c.1440G>T	c.(1438-1440)caG>caT	p.Q480H	DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H|DACT1_ENST00000395153.3_Missense_Mutation_p.Q443H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	480					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)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAAGCGCTCAGCTCTCAGGGG	0.557																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1327-1329)caG>caT		dishevelled-binding antagonist of beta-catenin 1							54	65	61					14																	59112781		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112781G>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.1440G>T	14.37:g.59112781G>T	ENSP00000337439:p.Gln480His					DACT1_ENST00000395151.3_Missense_Mutation_p.Q199H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q480H	p.Q443H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1476	+			480					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1329G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633905	0.03584	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.35	1.47	0.22746	.	0.528596	0.21428	N	0.074714	T	0.41743	0.1172	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39187	-0.9626	10	0.54805	T	0.06	-2.8615	7.1379	0.25539	0.2076:0.1239:0.6685:0.0	.	443;480	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	199;199;443;480;199	ENSP00000451598:Q199H;ENSP00000378581:Q199H;ENSP00000378582:Q443H;ENSP00000337439:Q480H;ENSP00000442850:Q199H	ENSP00000337439:Q480H	Q	+	3	2	DACT1	58182534	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.210000	0.09345	0.250000	0.21479	-0.244000	0.11960	CAG		0.557	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		19	685	1	0	3.99206e-14	1	4.32713e-14	19	685					T	59112781	G	T	59112781	3	4	79	1	0	0	0	0	1	0	0	0	4233	962	34	3	1454	3	DACT1	14	59112781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	59112781	48236759	14697	25014											
DAAM1	23002	broad.mit.edu	37	chr14	59730276	59730276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatcacccagaaatcacGtatcggctgcgaaatgatag	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	27					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(79-81)acG>acA		dishevelled associated activator of morphogenesis 1							143	127	133					14																	59730276		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59730276G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.81G>A	14.37:g.59730276G>A						DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T	p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	1	104	+			27					Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.81G>A	CCDS9737.1																																																																																				0.473	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		97	419	0	0	0	1	0	97	419					A	59730276	G	A	59730276	2	1	79	1	0	0	0	0	0	0	0	1	4226	1132	40	1		1	DAAM1	14	59730276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617495	59730276	47619264	14698	25015											
DAAM1	23002	broad.mit.edu	37	chr14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcagaccttaaataaAatgaaagagaaacttgaaaa	7	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	489					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1465-1467)aaA>aaC		dishevelled associated activator of morphogenesis 1							90	88	89					14																	59797313		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797313A>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1467A>C	14.37:g.59797313A>C	ENSP00000378557:p.Lys489Asn					DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N	p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	12	1490	+			489					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1467A>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158223	0.38119	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.33216	1.42;1.42;1.42	5.98	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.16928	-1.0386	10	0.38643	T	0.18	.	8.9768	0.35941	0.5712:0.0:0.4288:0.0	.	489;489	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	489	ENSP00000354162:K489N;ENSP00000247170:K489N;ENSP00000378557:K489N	ENSP00000247170:K489N	K	+	3	2	DAAM1	58867066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.139000	0.42149	0.181000	0.19994	-0.256000	0.11100	AAA		0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		52	286	0	0	0	1	0	52	286					C	59797313	A	C	59797313	3	2	79	1	0	0	0	0	1	0	0	0	4226	11	1	4	1513	4	DAAM1	14	59797313	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67037	59797313	47552227	14699	25016											
DAAM1	23002	broad.mit.edu	37	chr14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaatgacgaaatcaaaCgggcaattctaacaatggac	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	712	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2134-2136)Cgg>Tgg		dishevelled associated activator of morphogenesis 1							79	69	72					14																	59814285		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59814285C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2134C>T	14.37:g.59814285C>T	ENSP00000378557:p.Arg712Trp					DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	p.R712W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	17	2157	+			712			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2134C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261330	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.35236	1.32;1.32;1.32	6.06	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.978;0.995	T	0.73799	-0.3869	10	0.72032	D	0.01	.	16.6315	0.85035	0.131:0.869:0.0:0.0	.	702;712	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	702;712;712;712	ENSP00000354162:R702W;ENSP00000247170:R712W;ENSP00000378557:R712W	ENSP00000247170:R712W	R	+	1	2	DAAM1	58884038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.930000	0.48924	1.523000	0.49018	0.650000	0.86243	CGG		0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		21	166	0	0	0	1	0	21	166					T	59814285	C	T	59814285	3	4	79	1	0	0	0	0	1	0	0	0	4226	527	19	1	2200	1	DAAM1	14	59814285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16972	59814285	47535255	14700	25017											
DAAM1	23002	broad.mit.edu	37	chr14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtttcagctttacGctcaggagaagtgtttgaca	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1041	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3121-3123)cGc>cTc		dishevelled associated activator of morphogenesis 1							125	118	120					14																	59835462		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835462G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3122G>T	14.37:g.59835462G>T	ENSP00000378557:p.Arg1041Leu					DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	p.R1041L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3145	+			1041			DAD.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3122G>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842526	0.91197	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82344	-1.6;-1.6;-1.6	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.050738	0.85682	D	0.000000	D	0.91382	0.7281	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91773	0.5429	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1031;1041	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	1031;1041;1041	ENSP00000354162:R1031L;ENSP00000247170:R1041L;ENSP00000378557:R1041L	ENSP00000247170:R1041L	R	+	2	0	DAAM1	58905215	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	CGC		0.413	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		51	185	1	0	1.81118e-26	1	2.08805e-26	51	185					T	59835462	G	T	59835462	3	4	79	1	0	0	0	0	1	0	0	0	4226	1087	38	3	3220	3	DAAM1	14	59835462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21177	59835462	47514078	14701	25018											
C14orf149	112849	broad.mit.edu	37	chr14	59942594	59942594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgccacttaccctcacaGctttccctgtgaatactgag	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59942594G>T	ENST00000247194.4	-	4	1045	c.932C>A	c.(931-933)gCt>gAt	p.A311D	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A140D	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	311					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TACCCTCACAGCTTTCCCTGT	0.458																																						ENST00000247194.4																			0											c.(931-933)gCt>gAt		L-3-hydroxyproline dehydratase (trans-)							84	83	83					14																	59942594		2203	4299	6502	SO:0001583	missense	112849							g.chr14:59942594G>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.932C>A	14.37:g.59942594G>T	ENSP00000247194:p.Ala311Asp					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A140D	p.A311D	NM_144581.1	NP_653182.1					4	1045	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.932C>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110504	0.94292	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18502	2.21;2.21;2.21	5.34	5.34	0.76211	.	0.048853	0.85682	D	0.000000	T	0.35998	0.0951	M	0.76574	2.34	0.80722	D	1	D	0.56968	0.978	P	0.52554	0.702	T	0.18999	-1.0319	10	0.66056	D	0.02	.	18.6236	0.91330	0.0:0.0:1.0:0.0	.	311	Q96EM0	PRCM_HUMAN	D	311;140;140	ENSP00000247194:A311D;ENSP00000431608:A140D;ENSP00000423874:A140D	ENSP00000247194:A311D	A	-	2	0	C14orf149	59012347	1.000000	0.71417	0.898000	0.35279	0.958000	0.62258	7.318000	0.79029	2.480000	0.83734	0.460000	0.39030	GCT		0.458	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		86	322	1	0	1.0532e-45	1	1.29204e-45	86	322					T	59942594	G	T	59942594	3	4	79	1	0	0	0	0	1	0	0	0	1757	971	34	3	140	3	C14orf149	14	59942594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107132	59942594	47406946	14702	25019											
C14orf149	112849	broad.mit.edu	37	chr14	59950867	59950867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcacgtggtcaaggtgCtggcgcatgtagcgccgctt	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59950867C>A	ENST00000247194.4	-	1	281	c.168G>T	c.(166-168)caG>caT	p.Q56H	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	56					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GGTCAAGGTGCTGGCGCATGT	0.701											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000247194.4																			0											c.(166-168)caG>caT		L-3-hydroxyproline dehydratase (trans-)							16	13	14					14																	59950867		2125	4206	6331	SO:0001583	missense	112849							g.chr14:59950867C>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.168G>T	14.37:g.59950867C>A	ENSP00000247194:p.Gln56His		OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	RP11-701B16.2_ENST00000554253.1_RNA	p.Q56H	NM_144581.1	NP_653182.1					1	281	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.168G>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141889	0.77775	.	.	ENSG00000126790	ENST00000247194	T	0.17691	2.26	4.53	2.67	0.31697	.	0.111307	0.64402	D	0.000012	T	0.20129	0.0484	L	0.41492	1.28	0.80722	D	1	P;B	0.44877	0.845;0.393	P;P	0.51229	0.663;0.447	T	0.01363	-1.1374	10	0.72032	D	0.01	.	6.853	0.24024	0.0:0.6286:0.1883:0.1831	.	56;56	B4DGY8;Q96EM0	.;PRCM_HUMAN	H	56	ENSP00000247194:Q56H	ENSP00000247194:Q56H	Q	-	3	2	C14orf149	59020620	0.997000	0.39634	0.999000	0.59377	0.950000	0.60333	0.764000	0.26532	0.615000	0.30124	0.455000	0.32223	CAG		0.701	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		21	73	1	0	0.00887093	1	0.00892338	21	73					A	59950867	C	A	59950867	3	1	79	1	0	0	0	0	1	0	0	0	1757	796	28	3	916	3	C14orf149	14	59950867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8273	59950867	47398673	14703	25020											
JKAMP	729665	broad.mit.edu	37	chr14	59970602	59970602	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttctggtcagaaagaaaAgacttattgttctcttcagc	7	8	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59970602A>C	ENST00000537690.2	-	0	2616				JKAMP_ENST00000425728.2_Silent_p.R244R|JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000554271.1_Silent_p.R264R|JKAMP_ENST00000356057.5_Silent_p.R258R|RP11-701B16.2_ENST00000554253.1_RNA	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175																		CAGAAAGAAAAGACTTATTGT	0.353																																						ENST00000554271.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(790-792)Aga>Cga		JNK1/MAPK8-associated membrane protein							120	113	115					14																	59970602		1812	4082	5894	SO:0001628	intergenic_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59970602A>C		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 38"	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970602A>C						JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000356057.5_Silent_p.R258R|JKAMP_ENST00000425728.2_Silent_p.R244R|RP11-701B16.2_ENST00000554253.1_RNA	p.R264R			Q9P055	JKAMP_HUMAN			7	1316	+			265					G3V5J7	Silent	SNP	ENST00000537690.2	37	c.790A>C	CCDS53898.1																																																																																				0.353	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399		72	308	0	0	0	1	0	72	308					C	59970602	A	C	59970602	1	2	79	0	1	0	0	0	0	0	0	0	7979	64	3	4		4	JKAMP	14	59970602	IGR	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19735	59970602	47378938	14704	25021											
RTN1	6252	broad.mit.edu	37	chr14	60074020	60074020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaaagggtggccttcGtcggttttctgcactgcttg	12	10	1	1	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000267484.5	-	4	2291	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	652	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGGCCTTCGTCGGTTTTCT	0.562													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0					ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1954-1956)gaC>gaT		reticulon 1		G	,,	15,4391	22.3+/-47.3	0,15,2188	71	62	65		1956,252,696	-0.4	1	14	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RTN1	NM_021136.2,NM_206852.2,NM_206857.1	,,	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,	652/777,84/209,232/357	60074020	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60074020G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1956C>T	14.37:g.60074020G>A						RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000395090.1_Silent_p.D69D	p.D652D	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	4	2291	-			652			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1956C>T	CCDS9740.1																																																																																				0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			28	121	0	0	0	1	0	28	121					A	60074020	G	A	60074020	2	1	79	1	0	0	0	0	0	0	0	1	13775	1136	40	1		1	RTN1	14	60074020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103418	60074020	47275520	14705	25022											
RTN1	6252	broad.mit.edu	37	chr14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtgatctgaggagccCtgcgctgttcttcagagaga	16	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	273					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGGAGCCCTGCGCTGTTC	0.453																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(817-819)aGg>aAg		reticulon 1							135	129	131					14																	60212623		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212623C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.818G>A	14.37:g.60212623C>T	ENSP00000267484:p.Arg273Lys						p.R273K	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1153	-			273					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.818G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390455	0.11581	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22134	1.97	5.53	0.326	0.15908	.	1.177410	0.05768	N	0.606107	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.28427	-1.0044	10	0.05525	T	0.97	.	1.0774	0.01635	0.2215:0.3573:0.1084:0.3128	.	273	Q16799	RTN1_HUMAN	K	273;199	ENSP00000267484:R273K	ENSP00000267484:R273K	R	-	2	0	RTN1	59282376	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.556000	0.23438	0.036000	0.15547	-0.259000	0.10710	AGG		0.453	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			115	546	0	0	0	1	0	115	546					T	60212623	C	T	60212623	3	4	79	1	0	0	0	0	1	0	0	0	13775	681	24	2	1609	2	RTN1	14	60212623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138603	60212623	47136917	14706	25023											
C14orf135	64430	broad.mit.edu	37	chr14	60581598	60581598	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgtcaacccacttacgGtatttatttttaaatattga	4	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60581598G>A	ENST00000406854.1	+	3	1423		c.e3+1		PCNXL4_ENST00000317623.4_Splice_Site|PCNXL4_ENST00000404681.2_Splice_Site|PCNXL4_ENST00000406949.1_Splice_Site			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)							integral component of membrane (GO:0016021)											CCCACTTACGGTATTTATTTT	0.348																																						ENST00000406854.1																			0											c.e3+1		pecanex-like 4 (Drosophila)							94	90	91					14																	60581598		1796	4063	5859	SO:0001630	splice_region_variant	64430							g.chr14:60581598G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.869+1G>A	14.37:g.60581598G>A						PCNXL4_ENST00000404681.2_Splice_Site|PCNXL4_ENST00000317623.4_Splice_Site|PCNXL4_ENST00000406949.1_Splice_Site								3	1423	+								A8MXM2|Q9BQG8|Q9H9F2	Splice_Site	SNP	ENST00000406854.1	37			.	.	.	.	.	.	.	.	.	.	G	14.26	2.481435	0.44147	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf135	59651351	1.000000	0.71417	0.993000	0.49108	0.484000	0.33280	9.316000	0.96319	2.512000	0.84698	0.462000	0.41574	.		0.348	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	Intron	111	502	0	0	0	1	0	111	502					A	60581598	G	A	60581598	5	1	79	1	0	0	0	0	0	0	1	0	1750	1275	44	2	170	2	C14orf135	14	60581598	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368975	60581598	46767942	14707	25024											
C14orf135	64430	broad.mit.edu	37	chr14	60585139	60585139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggacagagaaaaaacaAcgtcgaaaaacaactgccac	7	10	1	1	rs139085229|rs367609970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60585139A>G	ENST00000406854.1	+	7	2225	c.1671A>G	c.(1669-1671)caA>caG	p.Q557Q	PCNXL4_ENST00000317623.4_Silent_p.Q323Q|PCNXL4_ENST00000535349.1_5'Flank|PCNXL4_ENST00000404681.2_Silent_p.Q557Q|PCNXL4_ENST00000406949.1_Silent_p.Q323Q			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	557						integral component of membrane (GO:0016021)											AGAAAAAACAACGTCGAAAAA	0.383																																						ENST00000406854.1																			0											c.(1669-1671)caA>caG		pecanex-like 4 (Drosophila)							103	102	102					14																	60585139		2168	4288	6456	SO:0001819	synonymous_variant	64430							g.chr14:60585139A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1671A>G	14.37:g.60585139A>G						PCNXL4_ENST00000404681.2_Silent_p.Q557Q|PCNXL4_ENST00000317623.4_Silent_p.Q323Q|PCNXL4_ENST00000406949.1_Silent_p.Q323Q	p.Q557Q							7	2225	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.1671A>G																																																																																					0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		21	79	0	0	0	1	0	21	79					G	60585139	A	G	60585139	2	3	79	1	0	0	0	0	0	0	0	1	1750	40	2	4		4	C14orf135	14	60585139	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3541	60585139	46764401	14708	25025											
C14orf135	64430	broad.mit.edu	37	chr14	60591135	60591135	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctatcaggcataattgattCtcatgaaaacttaaaagaat	5	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591135C>A	ENST00000406854.1	+	9	2800	c.2246C>A	c.(2245-2247)tCt>tAt	p.S749Y	PCNXL4_ENST00000317623.4_Missense_Mutation_p.S515Y|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S749Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S515Y			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	749						integral component of membrane (GO:0016021)											ATAATTGATTCTCATGAAAAC	0.368																																						ENST00000406854.1																			0											c.(2245-2247)tCt>tAt		pecanex-like 4 (Drosophila)							70	70	70					14																	60591135		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60591135C>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2246C>A	14.37:g.60591135C>A	ENSP00000384801:p.Ser749Tyr					PCNXL4_ENST00000404681.2_Missense_Mutation_p.S749Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S515Y|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S515Y	p.S749Y							9	2800	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2246C>A		.	.	.	.	.	.	.	.	.	.	C	19.00	3.741904	0.69418	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.27402	1.68;1.7;1.67;1.7	5.69	3.79	0.43588	.	0.101468	0.64402	D	0.000001	T	0.54902	0.1887	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.91;0.915	T	0.62263	-0.6891	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.7458:0.2542:0.0	.	749;515	Q63HM2;B5MC47	CN135_HUMAN;.	Y	515;749;515;749	ENSP00000317396:S515Y;ENSP00000384801:S749Y;ENSP00000385201:S515Y;ENSP00000385713:S749Y	ENSP00000317396:S515Y	S	+	2	0	C14orf135	59660888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	0.689000	0.31550	0.650000	0.86243	TCT		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		43	166	1	0	3.61848e-18	1	4.01023e-18	43	166					A	60591135	C	A	60591135	3	1	79	1	0	0	0	0	1	0	0	0	1750	913	32	3	1570	3	C14orf135	14	60591135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5996	60591135	46758405	14709	25026											
C14orf135	64430	broad.mit.edu	37	chr14	60591214	60591214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaatactgctccaaaagGcctggcatgaaagagaatgt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591214G>A	ENST00000406854.1	+	9	2879	c.2325G>A	c.(2323-2325)agG>agA	p.R775R	PCNXL4_ENST00000317623.4_Silent_p.R541R|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Silent_p.R775R|PCNXL4_ENST00000406949.1_Silent_p.R541R			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	775						integral component of membrane (GO:0016021)											GCTCCAAAAGGCCTGGCATGA	0.388																																						ENST00000406854.1																			0											c.(2323-2325)agG>agA		pecanex-like 4 (Drosophila)							99	105	103					14																	60591214		2203	4300	6503	SO:0001819	synonymous_variant	64430							g.chr14:60591214G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2325G>A	14.37:g.60591214G>A						PCNXL4_ENST00000404681.2_Silent_p.R775R|PCNXL4_ENST00000317623.4_Silent_p.R541R|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Silent_p.R541R	p.R775R							9	2879	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.2325G>A																																																																																					0.388	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		108	431	0	0	0	1	0	108	431					A	60591214	G	A	60591214	2	1	79	1	0	0	0	0	0	0	0	1	1750	1194	42	2		2	C14orf135	14	60591214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	60591214	46758326	14710	25027											
C14orf135	64430	broad.mit.edu	37	chr14	60591898	60591898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttacggtggtgttttGccttggtctgttgctttgga	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591898G>A	ENST00000406854.1	+	9	3563	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	PCNXL4_ENST00000317623.4_Silent_p.L769L|PCNXL4_ENST00000535349.1_Silent_p.L210L|PCNXL4_ENST00000404681.2_Silent_p.L1003L|PCNXL4_ENST00000406949.1_Silent_p.L769L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1003						integral component of membrane (GO:0016021)											GTGGTGTTTTGCCTTGGTCTG	0.363																																						ENST00000406854.1																			0											c.(3007-3009)ttG>ttA		pecanex-like 4 (Drosophila)							48	47	47					14																	60591898		2203	4300	6503	SO:0001819	synonymous_variant	64430							g.chr14:60591898G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3009G>A	14.37:g.60591898G>A						PCNXL4_ENST00000404681.2_Silent_p.L1003L|PCNXL4_ENST00000317623.4_Silent_p.L769L|PCNXL4_ENST00000535349.1_Silent_p.L210L|PCNXL4_ENST00000406949.1_Silent_p.L769L	p.L1003L							9	3563	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.3009G>A																																																																																					0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		9	73	0	0	0	1	0	9	73					A	60591898	G	A	60591898	2	1	79	1	0	0	0	0	0	0	0	1	1750	1310	46	2		2	C14orf135	14	60591898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	60591898	46757642	14711	25028											
C14orf39	317761	broad.mit.edu	37	chr14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatcaaatacagaagaaTcaaataaattcaatccaggt	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	489					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACAGAAGAATCAAATAAATT	0.308																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1465-1467)gAt>gGt		chromosome 14 open reading frame 39							47	51	50					14																	60921756		2201	4284	6485	SO:0001583	missense	317761							g.chr14:60921756T>C	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1466A>G	14.37:g.60921756T>C	ENSP00000324920:p.Asp489Gly						p.D489G	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	16	1625	-			489					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1466A>G	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002911	0.35320	.	.	ENSG00000179008	ENST00000321731	T	0.32023	1.47	5.84	5.84	0.93424	.	0.082515	0.52532	D	0.000080	T	0.53158	0.1779	M	0.67953	2.075	0.44345	D	0.997235	D	0.76494	0.999	D	0.74674	0.984	T	0.56195	-0.8019	10	0.87932	D	0	-20.2714	13.5881	0.61944	0.0:0.0:0.0:1.0	.	489	Q8N1H7	S6OS1_HUMAN	G	489	ENSP00000324920:D489G	ENSP00000324920:D489G	D	-	2	0	C14orf39	59991509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.234000	0.73211	0.459000	0.35465	GAT		0.308	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		39	189	0	0	0	1	0	39	189					C	60921756	T	C	60921756	3	2	79	1	0	0	0	0	1	0	0	0	1777	1435	50	4	309	4	C14orf39	14	60921756	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	329858	60921756	46427784	14712	25029											
SIX6	4990	broad.mit.edu	37	chr14	60977961	60977961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtccagcgacagcgagtgCgacatctgagttgcccatcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	244					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACAGCGAGTGCGACATCTGAG	0.557																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(730-732)tgC>tgT		SIX homeobox 6							41	41	41					14																	60977961		2202	4298	6500	SO:0001819	synonymous_variant	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60977961C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.732C>T	14.37:g.60977961C>T							p.C244C	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	2	1180	+			244					Q6NT42|Q9P1X8	Silent	SNP	ENST00000327720.5	37	c.732C>T	CCDS9747.1																																																																																				0.557	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			30	335	0	0	0	1	0	30	335					T	60977961	C	T	60977961	2	4	79	1	0	0	0	0	0	0	0	1	14401	776	27	1		1	SIX6	14	60977961	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56205	60977961	46371579	14713	25030											
SIX1	6495	broad.mit.edu	37	chr14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagagttggttctgcTtgttggaggaggagttattg	18	2	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000247182.6	-	2	868	c.596A>G	c.(595-597)aAg>aGg	p.K199R	SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	199					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGGTTCTGCTTGTTGGAGGA	0.428																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(595-597)aAg>aGg		SIX homeobox 1							88	77	81					14																	61113260		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61113260T>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.596A>G	14.37:g.61113260T>C	ENSP00000247182:p.Lys199Arg					SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	p.K199R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	2	868	-			199					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.596A>G	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010109	0.93346	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.86956	-2.19;-2.18;-2.18	5.19	5.19	0.71726	.	0.045211	0.85682	D	0.000000	T	0.78641	0.4315	N	0.24115	0.695	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.72915	-0.4147	10	0.16896	T	0.51	-23.9489	15.22	0.73303	0.0:0.0:0.0:1.0	.	199	Q15475	SIX1_HUMAN	R	199;15;15	ENSP00000247182:K199R;ENSP00000450952:K15R;ENSP00000450739:K15R	ENSP00000247182:K199R	K	-	2	0	SIX1	60183013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.815000	0.69215	2.177000	0.69029	0.533000	0.62120	AAG		0.428	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			13	338	0	0	0	1	0	13	338					C	61113260	T	C	61113260	3	2	79	1	0	0	0	0	1	0	0	0	14396	1609	56	4	262	4	SIX1	14	61113260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135299	61113260	46236280	14714	25031											
SIX1	6495	broad.mit.edu	37	chr14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcccgcttctcacgcGgcgatgggtagggattgtgc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000247182.6	-	1	724	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	151					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(451-453)cCg>cTg		SIX homeobox 1							53	51	52					14																	61115456		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115456G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.452C>T	14.37:g.61115456G>A	ENSP00000247182:p.Pro151Leu					SIX1_ENST00000554986.1_Intron	p.P151L	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	724	-			151					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.452C>T	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344548	0.95807	.	.	ENSG00000126778	ENST00000247182	D	0.95918	-3.85	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97063	0.9772	10	0.87932	D	0	-26.2444	20.0189	0.97489	0.0:0.0:1.0:0.0	.	151	Q15475	SIX1_HUMAN	L	151	ENSP00000247182:P151L	ENSP00000247182:P151L	P	-	2	0	SIX1	60185209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.797000	0.99108	2.828000	0.97474	0.655000	0.94253	CCG		0.662	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			55	251	0	0	0	1	0	55	251					A	61115456	G	A	61115456	3	1	79	1	0	0	0	0	1	0	0	0	14396	1116	39	1	410	1	SIX1	14	61115456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2196	61115456	46234084	14715	25032											
SIX4	51804	broad.mit.edu	37	chr14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttgctgacagatgtcAcagtagatttgcttgccacc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	653					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GACAGATGTCACAGTAGATTT	0.483																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1957-1959)gTg>gCg		SIX homeobox 4							128	104	112					14																	61180513		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180513A>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1958T>C	14.37:g.61180513A>G	ENSP00000216513:p.Val653Ala						p.V653A	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2017	-			653					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1958T>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699771	0.30142	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.41	3.01	0.34805	.	0.806408	0.11312	N	0.577045	D	0.82779	0.5111	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70156	-0.4949	10	0.23891	T	0.37	.	7.3826	0.26864	0.6588:0.2713:0.07:0.0	.	653	Q9UIU6	SIX4_HUMAN	A	653;326	ENSP00000216513:V653A;ENSP00000451537:V326A	ENSP00000216513:V653A	V	-	2	0	SIX4	60250266	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.702000	0.47102	0.422000	0.26005	0.533000	0.62120	GTG		0.483	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			24	155	0	0	0	1	0	24	155					G	61180513	A	G	61180513	3	3	79	1	0	0	0	0	1	0	0	0	14399	159	6	4	391	4	SIX4	14	61180513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65057	61180513	46169027	14716	25033											
SIX4	51804	broad.mit.edu	37	chr14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggaatgagacagggaCactggggctgtaggacgtgg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	440					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGACAGGGACACTGGGGCTG	0.512																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1318-1320)Gtc>Atc		SIX homeobox 4							162	156	158					14																	61186709		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186709C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1318G>A	14.37:g.61186709C>T	ENSP00000216513:p.Val440Ile						p.V440I	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1377	-			440					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1318G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594048	0.28445	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90563	-2.69;0.92	5.72	5.72	0.89469	.	0.748974	0.13273	N	0.400382	T	0.78966	0.4367	N	0.08118	0	0.22591	N	0.998956	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63220	-0.6686	10	0.17369	T	0.5	.	8.5689	0.33556	0.1536:0.7653:0.0:0.0811	.	432;440	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	440;113;432	ENSP00000216513:V440I;ENSP00000451537:V113I	ENSP00000216513:V440I	V	-	1	0	SIX4	60256462	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.017000	0.40981	2.717000	0.92951	0.655000	0.94253	GTC		0.512	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			103	468	0	0	0	1	0	103	468					T	61186709	C	T	61186709	3	4	79	1	0	0	0	0	1	0	0	0	14399	478	17	2	1035	2	SIX4	14	61186709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6196	61186709	46162831	14717	25034											
SIX4	51804	broad.mit.edu	37	chr14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatttccattaaggaagaCaggtgaagtacttgcaggta	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	362					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTAAGGAAGACAGGTGAAGTA	0.403																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1084-1086)Gtc>Atc		SIX homeobox 4							94	91	92					14																	61186943		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186943C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1084G>A	14.37:g.61186943C>T	ENSP00000216513:p.Val362Ile						p.V362I	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1143	-			362					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1084G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377563	0.82682	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.11	5.62	5.62	0.85841	.	0.066731	0.64402	D	0.000014	D	0.93779	0.8011	L	0.29908	0.895	0.53688	D	0.999974	D;P	0.67145	0.996;0.9	D;B	0.77557	0.99;0.36	D	0.94100	0.7361	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	354;362	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	362;35;354	ENSP00000216513:V362I;ENSP00000451537:V35I	ENSP00000216513:V362I	V	-	1	0	SIX4	60256696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.660000	0.90430	0.655000	0.94253	GTC		0.403	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			17	401	0	0	0	1	0	17	401					T	61186943	C	T	61186943	3	4	79	1	0	0	0	0	1	0	0	0	14399	478	17	2	1269	2	SIX4	14	61186943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234	61186943	46162597	14718	25035											
TRMT5	57570	broad.mit.edu	37	chr14	61442419	61442419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaactcactgctgcatggCtgcccatctaaaagccactt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1216-1218)caG>caA		tRNA methyltransferase 5							92	92	92					14																	61442419		2203	4300	6503	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442419C>T	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1218G>A	14.37:g.61442419C>T						RP11-193F5.1_ENST00000553946.1_RNA	p.Q406Q	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1602	-			406						Silent	SNP	ENST00000261249.6	37	c.1218G>A	CCDS32092.1																																																																																				0.458	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		65	277	0	0	0	1	0	65	277					T	61442419	C	T	61442419	2	4	79	1	0	0	0	0	0	0	0	1	16620	796	28	2		2	TRMT5	14	61442419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255476	61442419	45907121	14719	25036											
TRMT5	145389	broad.mit.edu	37	chr14	61446005	61446005	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttaggtgtgcaatatgtCcaatcctgctaaaccctgaa	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61446005C>T	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|SLC38A6_ENST00000456840.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.G204E|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGCAATATGTCCAATCCTGCT	0.368																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(610-612)gGa>gAa		tRNA methyltransferase 5							113	107	109					14																	61446005		2203	4300	6503	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61446005C>T	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446005C>T	Exception_encountered					RP11-193F5.1_ENST00000553946.1_RNA	p.G204E	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	2	995	-			204					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.611G>A	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907767	0.92107	.	.	ENSG00000126814	ENST00000261249	T	0.64085	-0.08	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92249	0.5807	10	0.87932	D	0	-26.7256	18.1347	0.89614	0.0:1.0:0.0:0.0	.	204	Q32P41	TRM5_HUMAN	E	204	ENSP00000261249:G204E	ENSP00000261249:G204E	G	-	2	0	TRMT5	60515758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	2.489000	0.83994	0.655000	0.94253	GGA		0.368	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			22	356	0	0	0	1	0	22	356					T	61446005	C	T	61446005	1	4	79	0	1	0	0	0	0	0	0	0	16620	855	30	2		2	TRMT5	14	61446005	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3586	61446005	45903535	14720	25037											
PRKCH	5583	broad.mit.edu	37	chr14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcctgactcagggaggcGagcacgccatcttgagacat	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGGGAGGCGAGCACGCCAT	0.498																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1813-1815)Gag>Aag		protein kinase C, eta							263	261	262					14																	62014512		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014512G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1813G>A	14.37:g.62014512G>A	ENSP00000329127:p.Glu605Lys					PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A	p.E605K	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2198	+			605			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1813G>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424392	0.96111	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	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	0.64402	D	0.000003	T	0.61311	0.2337	L	0.33137	0.985	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.61123	-0.7126	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	605	P24723	KPCL_HUMAN	K	605;444	ENSP00000329127:E605K;ENSP00000450981:E444K	ENSP00000329127:E605K	E	+	1	0	PRKCH	61084265	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	9.805000	0.99149	2.840000	0.97914	0.655000	0.94253	GAG		0.498	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		290	1412	0	0	0	1	0	290	1412					A	62014512	G	A	62014512	3	1	79	1	0	0	0	0	1	0	0	0	12560	1059	37	1	1863	1	PRKCH	14	62014512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568507	62014512	45335028	14721	25038											
HIF1A	3091	broad.mit.edu	37	chr14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagccctaacgtgttatCtgtcgctttgagtcaaaggt	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000337138.4	+	12	2340	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S693Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	692	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AACGTGTTATCTGTCGCTTTG	0.333																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(2077-2079)tCt>tAt		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							81	74	77					14																	62207888		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207888C>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2075C>A	14.37:g.62207888C>A	ENSP00000338018:p.Ser692Tyr					HIF1A_ENST00000337138.4_Missense_Mutation_p.S692Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y	p.S693Y			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2343	+			692			ID.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.2078C>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136336	0.37728	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.56776	0.59;0.59;0.44;0.59;0.58	5.72	5.72	0.89469	.	1.828410	0.02128	N	0.056185	T	0.57359	0.2048	L	0.48642	1.525	0.37396	D	0.912625	P;P;P	0.42357	0.777;0.731;0.731	B;B;B	0.37047	0.232;0.24;0.24	T	0.60342	-0.7282	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	693;692;692	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	443;633;692;693;692;633;716	ENSP00000338018:S692Y;ENSP00000378446:S693Y;ENSP00000323326:S692Y;ENSP00000451696:S633Y;ENSP00000437955:S716Y	ENSP00000323326:S692Y	S	+	2	0	HIF1A	61277641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.937000	0.56575	2.857000	0.98124	0.650000	0.86243	TCT		0.333	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		65	308	1	0	1.85257e-25	1	2.12574e-25	65	308					A	62207888	C	A	62207888	3	1	79	1	0	0	0	0	1	0	0	0	7133	913	32	3	2121	3	HIF1A	14	62207888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193376	62207888	45141652	14722	25039											
SNAPC1	6617	broad.mit.edu	37	chr14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcacagcattttgatgCagcttatatttttaggaagc	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	122	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(364-366)gCa>gTa		small nuclear RNA activating complex, polypeptide 1, 43kDa							84	85	84					14																	62234006		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62234006C>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.365C>T	14.37:g.62234006C>T	ENSP00000216294:p.Ala122Val					RP11-618G20.1_ENST00000555937.1_RNA	p.A122V	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	3	469	+			122			SNAPC3-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.365C>T	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810662	0.50421	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.96	5.08	0.68730	.	0.095752	0.64402	N	0.000001	T	0.45796	0.1360	N	0.20357	0.565	0.46701	D	0.999162	B	0.26120	0.142	B	0.31869	0.137	T	0.34403	-0.9830	9	0.26408	T	0.33	-3.289	15.1923	0.73053	0.0:0.9328:0.0:0.0672	.	122	Q16533	SNPC1_HUMAN	V	122	.	ENSP00000216294:A122V	A	+	2	0	SNAPC1	61303759	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.014000	0.57145	1.533000	0.49186	0.655000	0.94253	GCA		0.348	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		75	255	0	0	0	1	0	75	255					T	62234006	C	T	62234006	3	4	79	1	0	0	0	0	1	0	0	0	14884	710	25	2	375	2	SNAPC1	14	62234006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26118	62234006	45115534	14723	25040											
KCNH5	27133	broad.mit.edu	37	chr14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcttctgccggaggcGctcctcctcctctttcttca	6	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCCGGAGGCGCTCCTCCTCC	0.498																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2065-2067)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83	88	86					14																	63175128		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175128G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2065C>T	14.37:g.63175128G>A	ENSP00000321427:p.Arg689Cys					KCNH5_ENST00000420622.2_3'UTR	p.R689C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2333	-			689					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2065C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172220	0.57584	.	.	ENSG00000140015	ENST00000322893	T	0.18502	2.21	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.01162	-1.1432	10	0.52906	T	0.07	.	11.0615	0.47950	0.0667:0.0:0.8045:0.1289	.	689	Q8NCM2	KCNH5_HUMAN	C	689	ENSP00000321427:R689C	ENSP00000321427:R689C	R	-	1	0	KCNH5	62244881	1.000000	0.71417	0.791000	0.31998	0.983000	0.72400	4.606000	0.61126	0.763000	0.33175	0.655000	0.94253	CGC		0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		119	430	0	0	0	1	0	119	430					A	63175128	G	A	63175128	3	1	79	1	0	0	0	0	1	0	0	0	8065	1087	38	1	905	1	KCNH5	14	63175128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941122	63175128	44174412	14724	25041											
KCNH5	27133	broad.mit.edu	37	chr14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttcgcacatgcatgggCaagggtggtttccttccaga	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	624					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGCATGGGCAAGGGTGGTT	0.438																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1870-1872)Gcc>Acc		potassium voltage-gated channel, subfamily H (eag-related), member 5							101	87	92					14																	63246595		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246595C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1870G>A	14.37:g.63246595C>T	ENSP00000321427:p.Ala624Thr					KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T	p.A624T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2138	-			624					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1870G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401805	0.83120	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.98926	-5.24;-5.04	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.41124	1.26	0.80722	D	1	P;D	0.64830	0.823;0.994	P;D	0.69479	0.535;0.964	D	0.99864	1.1087	10	0.54805	T	0.06	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	566;624	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	624;566	ENSP00000321427:A624T;ENSP00000378419:A566T	ENSP00000321427:A624T	A	-	1	0	KCNH5	62316348	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	GCC		0.438	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		48	196	0	0	0	1	0	48	196					T	63246595	C	T	63246595	3	4	79	1	0	0	0	0	1	0	0	0	8065	710	25	2	1138	2	KCNH5	14	63246595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71467	63246595	44102945	14725	25042											
KCNH5	27133	broad.mit.edu	37	chr14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccacaaagcagaggGcatccacactttctccagca	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V|KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	586					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAGCAGAGGGCATCCACACT	0.517																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1756-1758)gCc>gTc		potassium voltage-gated channel, subfamily H (eag-related), member 5							112	97	102					14																	63269112		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269112G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1757C>T	14.37:g.63269112G>A	ENSP00000321427:p.Ala586Val					KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V|KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V	p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	2025	-			586					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1757C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720742	0.48728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96802	-3.09;-4.13;-3.09	4.93	4.93	0.64822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.173476	0.52532	D	0.000080	D	0.95582	0.8564	L	0.56340	1.77	0.80722	D	1	B;B;B	0.29341	0.01;0.01;0.242	B;B;B	0.36766	0.015;0.009;0.232	D	0.94704	0.7886	10	0.54805	T	0.06	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	528;586;586	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	586;586;528	ENSP00000321427:A586V;ENSP00000395439:A586V;ENSP00000378419:A528V	ENSP00000321427:A586V	A	-	2	0	KCNH5	62338865	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.913000	0.56394	2.449000	0.82847	0.563000	0.77884	GCC		0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		76	337	0	0	0	1	0	76	337					A	63269112	G	A	63269112	3	1	79	1	0	0	0	0	1	0	0	0	8065	1203	42	2	1255	2	KCNH5	14	63269112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22517	63269112	44080428	14726	25043											
KCNH5	27133	broad.mit.edu	37	chr14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactctaccgccaaggcgCgcagacacccatcgctggcc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCCAAGGCGCGCAGACACCC	0.507																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83	78	79					14																	63269190		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269190C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1679G>A	14.37:g.63269190C>T	ENSP00000321427:p.Arg560His					KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H	p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1947	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1679G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509708	0.85282	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96885	-4.16;-4.16;-4.16	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91038	3.17	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	0.99445	1.0939	10	0.87932	D	0	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	H	560;560;502	ENSP00000321427:R560H;ENSP00000395439:R560H;ENSP00000378419:R502H	ENSP00000321427:R560H	R	-	2	0	KCNH5	62338943	1.000000	0.71417	0.865000	0.33974	0.885000	0.51271	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	CGC		0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		65	318	0	0	0	1	0	65	318					T	63269190	C	T	63269190	3	4	79	1	0	0	0	0	1	0	0	0	8065	768	27	1	1333	1	KCNH5	14	63269190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	63269190	44080350	14727	25044											
KCNH5	27133	broad.mit.edu	37	chr14	63453898	63453898	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgtcaatcgggcaaatttCgtccaaccttaaaaataagg	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(439-441)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 5							85	82	83					14																	63453898		2203	4299	6502	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453898C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.441G>A	14.37:g.63453898C>T						KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T	p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	709	-			147					C9JP98	Silent	SNP	ENST00000322893.7	37	c.441G>A	CCDS9756.1																																																																																				0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		65	267	0	0	0	1	0	65	267					T	63453898	C	T	63453898	2	4	79	1	0	0	0	0	0	0	0	1	8065	871	31	1		1	KCNH5	14	63453898	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184708	63453898	43895642	14728	25045											
KCNH5	27133	broad.mit.edu	37	chr14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagaagaacttcaaaGcagtttgattcgtagttgtc	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	92	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACTTCAAAGCAGTTTGATT	0.353																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(274-276)tgC>tgA		potassium voltage-gated channel, subfamily H (eag-related), member 5							101	98	99					14																	63473112		2202	4299	6501	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63473112G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.276C>A	14.37:g.63473112G>T	ENSP00000321427:p.Cys92*					KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*	p.C92*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	3	544	-			92			PAC.		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.276C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643477	0.96704	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	0.143	0.14820	.	0.046540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0009	0.36081	0.4595:0.0:0.5405:0.0	.	.	.	.	X	92;92;34;34	.	ENSP00000321427:C92X	C	-	3	2	KCNH5	62542865	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.085000	0.30840	-0.203000	0.10251	0.655000	0.94253	TGC		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		40	271	1	0	1.49673e-21	1	1.68722e-21	40	271					T	63473112	G	T	63473112	4	4	79	1	0	0	0	0	0	1	0	0	8065	963	34	3	2760	3	KCNH5	14	63473112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19214	63473112	43876428	14729	25046											
PPP2R5E	5529	broad.mit.edu	37	chr14	64006314	64006314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactgtgaggaactttgCgacctcttctgtctggcttt	9	10	3	1	rs548702302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64006314C>T	ENST00000337537.3	-	2	692	c.90G>A	c.(88-90)tcG>tcA	p.S30S	PPP2R5E_ENST00000555899.1_Silent_p.S30S|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	30					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGGAACTTTGCGACCTCTTCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18272	0.0		0.001	False		,,,				2504	0.0					ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(88-90)tcG>tcA		protein phosphatase 2, regulatory subunit B', epsilon isoform							177	149	158					14																	64006314		2203	4300	6503	SO:0001819	synonymous_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006314C>T	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.90G>A	14.37:g.64006314C>T						PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	p.S30S	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	692	-			30					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	ENST00000337537.3	37	c.90G>A	CCDS9758.1																																																																																				0.468	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		13	417	0	0	0	1	0	13	417					T	64006314	C	T	64006314	2	4	79	1	0	0	0	0	0	0	0	1	12443	755	27	1		1	PPP2R5E	14	64006314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533202	64006314	43343226	14730	25047											
WDR89	112840	broad.mit.edu	37	chr14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactaccatgttgggattgCtgggatggaaacgtacttga	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	181										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GTTGGGATTGCTGGGATGGAA	0.393																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(541-543)aGc>aAc		WD repeat domain 89							138	129	132					14																	64066119		2203	4300	6503	SO:0001583	missense	112840							g.chr14:64066119C>T	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.542G>A	14.37:g.64066119C>T	ENSP00000378399:p.Ser181Asn					WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	630	-			181						Missense_Mutation	SNP	ENST00000394942.2	37	c.542G>A	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303448	0.23736	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.60920	0.15;0.15;0.15	6.02	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.585075	0.19934	N	0.102794	T	0.23649	0.0572	N	0.02854	-0.475	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07809	-1.0753	10	0.21014	T	0.42	.	1.9776	0.03419	0.1223:0.4161:0.2101:0.2514	.	181	Q96FK6	WDR89_HUMAN	N	181	ENSP00000378399:S181N;ENSP00000267522:S181N;ENSP00000451702:S181N	ENSP00000267522:S181N	S	-	2	0	WDR89	63135872	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	0.056000	0.14256	0.887000	0.36136	0.650000	0.86243	AGC		0.393	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		80	401	0	0	0	1	0	80	401					T	64066119	C	T	64066119	3	4	79	1	0	0	0	0	1	0	0	0	17390	797	28	2	625	2	WDR89	14	64066119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59805	64066119	43283421	14731	25048											
SGPP1	81537	broad.mit.edu	37	chr14	64152848	64152848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataccaataaagaaaaatAtgtaaggaacaaaaaatgtg	7	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	ENST00000247225.6	-	3	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	434					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AAAGAAAAATATGTAAGGAAC	0.343																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1300-1302)aTa>aCa		sphingosine-1-phosphate phosphatase 1							62	51	55					14																	64152848		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152848A>G	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1301T>C	14.37:g.64152848A>G	ENSP00000247225:p.Ile434Thr						p.I434T	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1395	-			434					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1301T>C	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061569	0.36373	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.382330	0.26757	N	0.022650	T	0.42426	0.1202	L	0.40543	1.245	0.27067	N	0.963403	B	0.28713	0.22	B	0.24541	0.054	T	0.45145	-0.9281	9	0.66056	D	0.02	-5.5979	16.6406	0.85098	1.0:0.0:0.0:0.0	.	434	Q9BX95	SGPP1_HUMAN	T	434	.	ENSP00000247225:I434T	I	-	2	0	SGPP1	63222601	1.000000	0.71417	0.770000	0.31555	0.818000	0.46254	6.928000	0.75846	2.326000	0.78906	0.533000	0.62120	ATA		0.343	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		26	111	0	0	0	1	0	26	111					G	64152848	A	G	64152848	3	3	79	1	0	0	0	0	1	0	0	0	14269	449	16	4	28	4	SGPP1	14	64152848	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86729	64152848	43196692	14732	25049											
SYNE2	23224	broad.mit.edu	37	chr14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgggatctggatgagcTggacaaggatcatttacagt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000344113.4	+	11	1288	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	359					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGGATGAGCTGGACAAGGAT	0.428																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1075-1077)cTg>cCg		spectrin repeat containing, nuclear envelope 2							133	127	129					14																	64434512		1904	4137	6041	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64434512T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1076T>C	14.37:g.64434512T>C	ENSP00000341781:p.Leu359Pro					SYNE2_ENST00000344113.4_Missense_Mutation_p.L359P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P	p.L359P	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	11	1306	+			359					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1076T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736240	0.15574	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.62364	0.38;0.38;0.03	5.24	2.8	0.32819	.	0.454238	0.16247	N	0.222862	T	0.56292	0.1975	M	0.61703	1.905	0.80722	D	1	B;B	0.32800	0.266;0.385	B;B	0.33295	0.077;0.161	T	0.53718	-0.8399	10	0.87932	D	0	.	6.9347	0.24461	0.0:0.0775:0.1499:0.7727	.	359;359	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	359	ENSP00000350719:L359P;ENSP00000341781:L359P;ENSP00000452570:L359P	ENSP00000261678:L359P	L	+	2	0	SYNE2	63504265	0.033000	0.19621	0.323000	0.25347	0.034000	0.12701	0.576000	0.23744	0.284000	0.22305	0.482000	0.46254	CTG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		87	375	0	0	0	1	0	87	375					C	64434512	T	C	64434512	3	2	79	1	0	0	0	0	1	0	0	0	15498	1580	55	4	1114	4	SYNE2	14	64434512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	281664	64434512	42915028	14733	25050											
SYNE2	23224	broad.mit.edu	37	chr14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactggttcagcaacattaAagtgaaccttaaggagtgtt	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000344113.4	+	38	5776	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1855					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAACATTAAAGTGAACCTT	0.318																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5563-5565)aAa>aGa		spectrin repeat containing, nuclear envelope 2							46	42	43					14																	64489508		1822	4080	5902	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64489508A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5564A>G	14.37:g.64489508A>G	ENSP00000341781:p.Lys1855Arg					SYNE2_ENST00000344113.4_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R	p.K1855R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	38	5794	+			1855					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.5564A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432125	0.25813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61627	0.48;0.48;0.09	5.75	4.6	0.57074	.	0.471996	0.19589	N	0.110667	T	0.44685	0.1305	L	0.27053	0.805	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.32025	-0.9922	10	0.54805	T	0.06	.	10.5232	0.44931	0.9264:0.0:0.0736:0.0	.	1855;1855	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	R	1855	ENSP00000350719:K1855R;ENSP00000341781:K1855R;ENSP00000452570:K1855R	ENSP00000261678:K1855R	K	+	2	0	SYNE2	63559261	1.000000	0.71417	0.702000	0.30337	0.085000	0.17905	3.292000	0.51772	0.993000	0.38866	0.460000	0.39030	AAA		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	132	0	0	0	1	0	7	132					G	64489508	A	G	64489508	3	3	79	1	0	0	0	0	1	0	0	0	15498	14	1	4	5710	4	SYNE2	14	64489508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54996	64489508	42860032	14734	25051											
SYNE2	23224	broad.mit.edu	37	chr14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtttttctgataagcCtgtggatcaaatagcggttg	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000344113.4	+	44	7048	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2279					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATAAGCCTGTGGATCAA	0.378																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6835-6837)cCt>cAt		spectrin repeat containing, nuclear envelope 2							69	67	68					14																	64496734		1840	4082	5922	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496734C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6836C>A	14.37:g.64496734C>A	ENSP00000341781:p.Pro2279His					SYNE2_ENST00000344113.4_Missense_Mutation_p.P2279H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H	p.P2279H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7066	+			2279					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6836C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609305	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36878	1.23;1.23;1.23	5.03	3.17	0.36434	.	0.856008	0.10108	N	0.715018	T	0.33818	0.0876	N	0.24115	0.695	0.19945	N	0.999941	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.05550	-1.0878	10	0.07813	T	0.8	.	9.4087	0.38477	0.0:0.8198:0.0:0.1802	.	2279;2279	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2279	ENSP00000350719:P2279H;ENSP00000341781:P2279H;ENSP00000452570:P2279H	ENSP00000261678:P2279H	P	+	2	0	SYNE2	63566487	0.014000	0.17966	0.009000	0.14445	0.889000	0.51656	2.798000	0.47884	1.249000	0.43950	0.655000	0.94253	CCT		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		37	154	1	0	9.85521e-28	1	1.14271e-27	37	154					A	64496734	C	A	64496734	3	1	79	1	0	0	0	0	1	0	0	0	15498	681	24	3	7006	3	SYNE2	14	64496734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7226	64496734	42852806	14735	25052											
SYNE2	23224	broad.mit.edu	37	chr14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccacgtgactgacatgGataagaaattgttggaaagc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000344113.4	+	48	7986	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2592					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGACATGGATAAGAAATT	0.348																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7774-7776)Gat>Aat		spectrin repeat containing, nuclear envelope 2							91	84	86					14																	64518405		1857	4103	5960	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518405G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7774G>A	14.37:g.64518405G>A	ENSP00000341781:p.Asp2592Asn					SYNE2_ENST00000344113.4_Missense_Mutation_p.D2592N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N	p.D2592N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8004	+			2592					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7774G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365146	0.41902	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.73152	1.15;1.15;-0.72	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	T	0.78438	0.4283	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77230	-0.2664	10	0.45353	T	0.12	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	2592;2592	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2592;2592;2625;2625	ENSP00000350719:D2592N;ENSP00000341781:D2592N;ENSP00000452570:D2625N	ENSP00000261678:D2625N	D	+	1	0	SYNE2	63588158	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.394000	0.73223	2.788000	0.95919	0.650000	0.86243	GAT		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		68	261	0	0	0	1	0	68	261					A	64518405	G	A	64518405	3	1	79	1	0	0	0	0	1	0	0	0	15498	1174	41	2	7960	2	SYNE2	14	64518405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21671	64518405	42831135	14736	25053											
SYNE2	23224	broad.mit.edu	37	chr14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggaacaagtggaacaGcagattcaaaagaagtattc	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000344113.4	+	48	8048	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2612					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGGAACAGCAGATTCAAA	0.398																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7834-7836)caG>caT		spectrin repeat containing, nuclear envelope 2							103	98	100					14																	64518467		1907	4121	6028	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518467G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7836G>T	14.37:g.64518467G>T	ENSP00000341781:p.Gln2612His					SYNE2_ENST00000344113.4_Missense_Mutation_p.Q2612H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H	p.Q2612H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8066	+			2612					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7836G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111435	0.01813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	1.27;1.27;0.34	5.91	-11.5	0.00074	.	0.216802	0.32386	N	0.006174	T	0.32763	0.0840	L	0.34521	1.04	0.58432	D	0.999992	B;B	0.24368	0.062;0.102	B;B	0.25759	0.028;0.063	T	0.37079	-0.9721	10	0.46703	T	0.11	.	14.6757	0.68978	0.2302:0.2164:0.5534:0.0	.	2612;2612	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2612;2612;2645;2645	ENSP00000350719:Q2612H;ENSP00000341781:Q2612H;ENSP00000452570:Q2645H	ENSP00000261678:Q2645H	Q	+	3	2	SYNE2	63588220	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.055000	0.00626	-2.273000	0.00681	-1.053000	0.02334	CAG		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		70	369	1	0	7.07328e-35	1	8.4269e-35	70	369					T	64518467	G	T	64518467	3	4	79	1	0	0	0	0	1	0	0	0	15498	962	34	3	8022	3	SYNE2	14	64518467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	64518467	42831073	14737	25054											
SYNE2	23224	broad.mit.edu	37	chr14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaaagatcacagcaattaGaatttaagttggaagaaaga	8	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000344113.4	+	48	8700	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2830					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGCAATTAGAATTTAAGTT	0.343																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8488-8490)Gaa>Taa		spectrin repeat containing, nuclear envelope 2							43	41	42					14																	64519119		1810	4083	5893	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519119G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8488G>T	14.37:g.64519119G>T	ENSP00000341781:p.Glu2830*					SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E2830*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*	p.E2830*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8718	+			2830					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.8488G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	50	16.124919	0.99855	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.543	0.50677	0.0821:0.0:0.9179:0.0	.	.	.	.	X	2830;2830;2863;2863	.	ENSP00000261678:E2863X	E	+	1	0	SYNE2	63588872	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	3.719000	0.54926	2.475000	0.83589	0.313000	0.20887	GAA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		57	219	1	0	2.01807e-28	1	2.34828e-28	57	219					T	64519119	G	T	64519119	4	4	79	1	0	0	0	0	0	1	0	0	15498	943	33	3	8674	3	SYNE2	14	64519119	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	64519119	42830421	14738	25055											
SYNE2	23224	broad.mit.edu	37	chr14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgcagcttaacacaaGcattgatttgcgcacagtaa	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000344113.4	+	48	9940	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3243					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTAACACAAGCATTGATTTG	0.453																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9727-9729)aGc>aTc		spectrin repeat containing, nuclear envelope 2							69	64	66					14																	64520359		1917	4133	6050	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64520359G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9728G>T	14.37:g.64520359G>T	ENSP00000341781:p.Ser3243Ile					SYNE2_ENST00000344113.4_Missense_Mutation_p.S3243I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I	p.S3243I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9958	+			3243					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9728G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004126	0.35320	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	5.67	3.84	0.44239	.	0.179555	0.40818	N	0.001004	T	0.36552	0.0971	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61201	0.77;0.885	T	0.12656	-1.0539	10	0.34782	T	0.22	.	5.7365	0.18069	0.306:0.0:0.694:0.0	.	3243;3243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3243;3243;3276;3276	ENSP00000350719:S3243I;ENSP00000341781:S3243I;ENSP00000452570:S3276I	ENSP00000261678:S3276I	S	+	2	0	SYNE2	63590112	1.000000	0.71417	0.165000	0.22776	0.703000	0.40648	1.600000	0.36762	1.403000	0.46800	0.563000	0.77884	AGC		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		53	290	1	0	9.55421e-19	1	1.06232e-18	53	290					T	64520359	G	T	64520359	3	4	79	1	0	0	0	0	1	0	0	0	15498	971	34	3	9914	3	SYNE2	14	64520359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1240	64520359	42829181	14739	25056											
SYNE2	23224	broad.mit.edu	37	chr14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgcacagaaaatgatgGcatatgtttgctcaagattg	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000344113.4	+	51	10519	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATGATGGCATATGTTTG	0.443																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10306-10308)gGc>gTc		spectrin repeat containing, nuclear envelope 2							168	160	162					14																	64532244		1948	4151	6099	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532244G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10307G>T	14.37:g.64532244G>T	ENSP00000341781:p.Gly3436Val					SYNE2_ENST00000344113.4_Missense_Mutation_p.G3436V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V	p.G3436V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10537	+			3436					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10307G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.47528	1.41;0.84;1.41;4.19	5.2	0.842	0.18927	.	0.684405	0.14471	N	0.317589	T	0.24851	0.0603	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.36183	0.407;0.542	B;B	0.34385	0.088;0.181	T	0.10730	-1.0617	10	0.41790	T	0.15	.	1.6822	0.02834	0.2422:0.184:0.4448:0.1291	.	3436;3436	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3436;3436;3469;3469;70	ENSP00000350719:G3436V;ENSP00000341781:G3436V;ENSP00000452570:G3469V;ENSP00000450831:G70V	ENSP00000261678:G3469V	G	+	2	0	SYNE2	63601997	0.007000	0.16637	0.000000	0.03702	0.264000	0.26372	1.415000	0.34748	0.171000	0.19730	0.650000	0.86243	GGC		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		20	309	1	0	1.2644e-06	1	1.30616e-06	20	309					T	64532244	G	T	64532244	3	4	79	1	0	0	0	0	1	0	0	0	15498	1203	42	3	10505	3	SYNE2	14	64532244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11885	64532244	42817296	14740	25057											
SYNE2	23224	broad.mit.edu	37	chr14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtttgctcaagattgtgtCggctctgtgggagaaatggc	14	6	2	2	rs372338837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000344113.4	+	51	10543	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S3444L(1)|p.S3444>?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGG	0.433																																						ENST00000358025.3																			2	Substitution - Missense(1)|Complex(1)	p.S3444L(1)|p.S3444>?(1)	kidney(2)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10330-10332)tCg>tTg		spectrin repeat containing, nuclear envelope 2		C	LEU/SER,LEU/SER	1,3939		0,1,1969	168	165	166		10331,10331	1.7	0	14		166	0,8344		0,0,4172	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	145,145	0,1,6141	TT,TC,CC		0.0,0.0254,0.0081	benign,benign	3444/6886,3444/6908	64532268	1,12283	1970	4172	6142	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532268C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10331C>T	14.37:g.64532268C>T	ENSP00000341781:p.Ser3444Leu					SYNE2_ENST00000344113.4_Missense_Mutation_p.S3444L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L	p.S3444L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10561	+			3444					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10331C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043958	0.19748	2.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.51325	1.3;0.71;1.3;4.09	5.61	1.7	0.24286	.	0.592105	0.15399	N	0.264435	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.18741	0.017;0.03	B;B	0.12156	0.003;0.007	T	0.15263	-1.0443	10	0.34782	T	0.22	.	6.4274	0.21778	0.0:0.5589:0.2442:0.1969	.	3444;3444	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3444;3444;3477;3477;78	ENSP00000350719:S3444L;ENSP00000341781:S3444L;ENSP00000452570:S3477L;ENSP00000450831:S78L	ENSP00000261678:S3477L	S	+	2	0	SYNE2	63602021	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.058000	0.14301	0.107000	0.17824	-0.145000	0.13849	TCG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		67	225	0	0	0	1	0	67	225					T	64532268	C	T	64532268	3	4	79	1	0	0	0	0	1	0	0	0	15498	893	31	1	10529	1	SYNE2	14	64532268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	64532268	42817272	14741	25058											
SYNE2	23224	broad.mit.edu	37	chr14	64532312	64532312	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttgctggaagctgctaaaGagtgggagatgtggtgcgaa	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532312G>T	ENST00000344113.4	+	51	10587	c.10375G>T	c.(10375-10377)Gag>Tag	p.E3459*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3492*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E93*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E3459*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3459					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCTGCTAAAGAGTGGGAGAT	0.433																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10375-10377)Gag>Tag		spectrin repeat containing, nuclear envelope 2							169	168	168					14																	64532312		1974	4170	6144	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532312G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10375G>T	14.37:g.64532312G>T	ENSP00000341781:p.Glu3459*					SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E3459*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E93*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3492*	p.E3459*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10605	+			3459					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.10375G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	52	19.842458	0.99924	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.52	4.63	0.57726	.	0.300758	0.28104	N	0.016586	.	.	.	.	.	.	0.34453	D	0.700926	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.6066	0.45398	0.1471:0.0:0.8529:0.0	.	.	.	.	X	3459;3459;3492;3492;93	.	ENSP00000261678:E3492X	E	+	1	0	SYNE2	63602065	0.115000	0.22152	0.006000	0.13384	0.973000	0.67179	2.785000	0.47782	1.477000	0.48234	0.585000	0.79938	GAG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	253	1	0	0.27861	1	0.278732	7	253					T	64532312	G	T	64532312	4	4	79	1	0	0	0	0	0	1	0	0	15498	943	33	3	10573	3	SYNE2	14	64532312	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	64532312	42817228	14742	25059											
SYNE2	23224	broad.mit.edu	37	chr14	64542662	64542662	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactctcttaatgcttttaGgagcttcaaagcatccttaa	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000344113.4	+	54	11078		c.e54-1		SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGCTTTTAGGAGCTTCAAA	0.378																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e54-1		spectrin repeat containing, nuclear envelope 2							56	58	57					14																	64542662		2203	4299	6502	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64542662G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10867-1G>T	14.37:g.64542662G>T						SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	54	11096	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37		CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924215	0.52653	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63612415	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.718000	0.74713	2.769000	0.95229	0.655000	0.94253	.		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	12	254	1	0	4.36969e-10	1	4.6211e-10	12	254					T	64542662	G	T	64542662	5	4	79	1	0	0	0	0	0	0	1	0	15498	1014	35	3	11076	3	SYNE2	14	64542662	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10350	64542662	42806878	14743	25060											
SYNE2	23224	broad.mit.edu	37	chr14	64604534	64604534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacattggtggaaaacaCgcccggctttaccaaactct	8	11	1	1	rs375987275		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000344113.4	+	79	14888	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	SYNE2_ENST00000554584.1_Silent_p.H4809H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4892					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.H4892H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGAAAACACGCCCGGCTTT	0.403																																						ENST00000357395.3																			1	Substitution - coding silent(1)	p.H4892H(1)	large_intestine(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3829-3831)caC>caT		spectrin repeat containing, nuclear envelope 2							75	73	73					14																	64604534		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64604534C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14676C>T	14.37:g.64604534C>T						SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000554584.1_Silent_p.H4809H	p.H1277H			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	14975	+			4892					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3831C>T	CCDS41963.1																																																																																				0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		78	311	0	0	0	1	0	78	311					T	64604534	C	T	64604534	2	4	79	1	0	0	0	0	0	0	0	1	15498	535	19	1		1	SYNE2	14	64604534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61872	64604534	42745006	14744	25061											
SYNE2	23224	broad.mit.edu	37	chr14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagctcaaaacctccatGcagtcagttttacaggagtg	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000344113.4	+	86	16028	c.15816G>A	c.(15814-15816)atG>atA	p.M5272I	SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5272					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTCCATGCAGTCAGTTT	0.408																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4969-4971)atG>atA		spectrin repeat containing, nuclear envelope 2							114	103	107					14																	64625366		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64625366G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15816G>A	14.37:g.64625366G>A	ENSP00000341781:p.Met5272Ile					SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I	p.M1657I			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	87	16115	+			5272					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4971G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424303	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.77	2.98	0.34508	.	0.191659	0.37304	N	0.002151	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	B;B;B;B;B	0.29988	0.171;0.004;0.002;0.066;0.264	B;B;B;B;B	0.26094	0.038;0.011;0.004;0.025;0.066	T	0.04216	-1.0968	10	0.11182	T	0.66	.	8.582	0.33634	0.3021:0.0:0.6979:0.0	.	1657;5195;5189;5272;5272	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	5272;1657;5272;5189;5195;1906;1657	ENSP00000350719:M5272I;ENSP00000349969:M1657I;ENSP00000341781:M5272I;ENSP00000452570:M5189I;ENSP00000450831:M1906I;ENSP00000378249:M1657I	ENSP00000261678:M5195I	M	+	3	0	SYNE2	63695119	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	1.721000	0.38032	0.459000	0.27016	0.650000	0.86243	ATG		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		49	235	0	0	0	1	0	49	235					A	64625366	G	A	64625366	3	1	79	1	0	0	0	0	1	0	0	0	15498	1319	46	2	16154	2	SYNE2	14	64625366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20832	64625366	42724174	14745	25062											
SYNE2	23224	broad.mit.edu	37	chr14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgaagggccaggagCgcttcagcctctaccaaacc	11	14	2	1	rs376008959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000344113.4	+	94	17403	c.17191C>T	c.(17191-17193)Cgc>Tgc	p.R5731C	SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5731					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGCCAGGAGCGCTTCAGCCT	0.512																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6346-6348)Cgc>Tgc		spectrin repeat containing, nuclear envelope 2		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	63	72		17191,17191	-1.9	0	14		72	0,8600		0,0,4300	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	5731/6886,5731/6908	64637136	1,13005	2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64637136C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17191C>T	14.37:g.64637136C>T	ENSP00000341781:p.Arg5731Cys					SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000554584.1_Intron	p.R2116C			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	95	17490	+			5731					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6346C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118488	0.20877	2.27E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.49139	0.79;4.07;0.8;4.12;4.07	5.68	-1.91	0.07641	.	0.348277	0.24523	N	0.037800	T	0.13457	0.0326	N	0.00841	-1.15	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.16247	-1.0409	10	0.51188	T	0.08	.	4.0351	0.09725	0.103:0.0822:0.2099:0.605	.	2116;119;5731;5731	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5731;2116;5731;2365;2116	ENSP00000350719:R5731C;ENSP00000349969:R2116C;ENSP00000341781:R5731C;ENSP00000450831:R2365C;ENSP00000378249:R2116C	ENSP00000341781:R5731C	R	+	1	0	SYNE2	63706889	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	-0.932000	0.03963	-0.583000	0.05921	0.555000	0.69702	CGC		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		25	123	0	0	0	1	0	25	123					T	64637136	C	T	64637136	3	4	79	1	0	0	0	0	1	0	0	0	15498	768	27	1	17561	1	SYNE2	14	64637136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11770	64637136	42712404	14746	25063											
SYNE2	23224	broad.mit.edu	37	chr14	64679654	64679654	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatgagctggaggaactCcaccgctactgccaggaggt	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000344113.4	+	105	19199	c.18987C>T	c.(18985-18987)ctC>ctT	p.L6329L	SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000554584.1_Silent_p.L6288L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000357395.3_Silent_p.L2714L|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555022.1_Silent_p.L207L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6329					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGGAACTCCACCGCTACT	0.572																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8140-8142)ctC>ctT		spectrin repeat containing, nuclear envelope 2							93	91	92					14																	64679654		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64679654C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18987C>T	14.37:g.64679654C>T						SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555022.1_Silent_p.L207L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L6329L|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000554584.1_Silent_p.L6288L	p.L2714L			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	106	19286	+			6329					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.8142C>T	CCDS41963.1																																																																																				0.572	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		105	373	0	0	0	1	0	105	373					T	64679654	C	T	64679654	2	4	79	1	0	0	0	0	0	0	0	1	15498	842	30	2		2	SYNE2	14	64679654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42518	64679654	42669886	14747	25064											
SYNE2	23224	broad.mit.edu	37	chr14	64691244	64691244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcctcctgcaacatcCgtgccagctccccgagcaaa	8	18	0	0	rs546213944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64691244C>T	ENST00000344113.4	+	113	20591	c.20379C>T	c.(20377-20379)tcC>tcT	p.S6793S	SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000554584.1_Silent_p.S6709S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.S3450S|SYNE2_ENST00000357395.3_Silent_p.S3178S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000555022.1_Silent_p.S671S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6793					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAACATCCGTGCCAGCTC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0					ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9532-9534)tcC>tcT		spectrin repeat containing, nuclear envelope 2							75	77	76					14																	64691244		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64691244C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20379C>T	14.37:g.64691244C>T						SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000555022.1_Silent_p.S671S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000344113.4_Silent_p.S6793S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000555002.1_Silent_p.S3450S|SYNE2_ENST00000554584.1_Silent_p.S6709S	p.S3178S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	114	20678	+			6793					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.9534C>T	CCDS41963.1																																																																																				0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	498	0	0	0	1	0	14	498					T	64691244	C	T	64691244	2	4	79	1	0	0	0	0	0	0	0	1	15498	639	23	1		1	SYNE2	14	64691244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11590	64691244	42658296	14748	25065											
SYNE2	23224	broad.mit.edu	37	chr14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctcaagggtggtccGggcagccctacccctgcagc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000344113.4	+	115	20713	c.20501G>A	c.(20500-20502)cGg>cAg	p.R6834Q	SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6834	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGGTGGTCCGGGCAGCCCTA	0.647																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9655-9657)cGg>cAg		spectrin repeat containing, nuclear envelope 2							44	36	39					14																	64692087		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64692087G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20501G>A	14.37:g.64692087G>A	ENSP00000341781:p.Arg6834Gln					SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6834Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000554584.1_Silent_p.P6754P	p.R3219Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	116	20800	+			6834					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9656G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029618	0.93518	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.124076	0.32175	N	0.006463	T	0.61788	0.2375	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.72338	0.953;0.974;0.977;0.945;0.976;0.976;0.966	T	0.67292	-0.5707	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	491;3219;378;505;1236;6834;6856	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	Q	6856;3219;6834;3490;3219;712;617;505;378	ENSP00000350719:R6856Q;ENSP00000349969:R3219Q;ENSP00000341781:R6834Q;ENSP00000450831:R3490Q;ENSP00000378249:R3219Q;ENSP00000451009:R712Q;ENSP00000450605:R617Q;ENSP00000391937:R505Q;ENSP00000396794:R378Q	ENSP00000341781:R6834Q	R	+	2	0	SYNE2	63761840	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGG		0.647	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		51	184	0	0	0	1	0	51	184					A	64692087	G	A	64692087	3	1	79	1	0	0	0	0	1	0	0	0	15498	1116	39	1	21070	1	SYNE2	14	64692087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	843	64692087	42657453	14749	25066											
ESR2	2100	broad.mit.edu	37	chr14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgtctccgcacaaggCggtacccacatctctctctc	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000341099.4	-	5	1097	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587																																						ENST00000557772.1																			2	Substitution - Missense(2)	p.R227L(2)	lung(2)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(679-681)cGc>cAc		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						29	30	30					14																	64727439		2201	4294	6495	SO:0001583	missense	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727439C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.680G>A	14.37:g.64727439C>T	ENSP00000343925:p.Arg227His					ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000341099.4_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H	p.R227H	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	679	-			227			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.680G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344503	0.61073	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.94;-2.89;-2.88;-2.88;-2.88;-2.96;-2.94;-2.96;-2.94;-2.79;-2.53	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96513	0.8862	M	0.92923	3.36	0.58432	D	0.999997	P;D;D;D;B	0.89917	0.835;1.0;0.998;1.0;0.066	B;D;D;D;B	0.77557	0.401;0.985;0.921;0.99;0.017	D	0.96129	0.9091	10	0.54805	T	0.06	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	H	227	ENSP00000452485:R227H;ENSP00000441792:R227H;ENSP00000450699:R227H;ENSP00000335551:R227H;ENSP00000351412:R227H;ENSP00000450488:R227H;ENSP00000452426:R227H;ENSP00000350427:R227H;ENSP00000451582:R227H;ENSP00000343925:R227H;ENSP00000267525:R227H	ENSP00000267525:R227H	R	-	2	0	ESR2	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC		0.587	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			59	230	0	0	0	1	0	59	230					T	64727439	C	T	64727439	3	4	79	1	0	0	0	0	1	0	0	0	5275	768	27	1	1018	1	ESR2	14	64727439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35352	64727439	42622101	14750	25067											
ZBTB1	22890	broad.mit.edu	37	chr14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacaattaggtaattttcCtgagccactatttgatgtat	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(556-558)cCt>cTt		zinc finger and BTB domain containing 1							69	73	71					14																	64988779		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988779C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.557C>T	14.37:g.64988779C>T	ENSP00000451000:p.Pro186Leu					RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L	p.P186L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	948	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	186					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.557C>T	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT		0.413	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			92	329	0	0	0	1	0	92	329					T	64988779	C	T	64988779	3	4	79	1	0	0	0	0	1	0	0	0	17575	681	24	2	559	2	ZBTB1	14	64988779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261340	64988779	42360761	14751	25068											
HSPA2	3306	broad.mit.edu	37	chr14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaacaccatcttcgacGccaagaggctgattggacgg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000394709.1	+	2	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	71					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(211-213)Gcc>Acc		heat shock 70kDa protein 2							99	79	86					14																	65007778		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007778G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.211G>A	14.37:g.65007778G>A	ENSP00000378199:p.Ala71Thr					HSPA2_ENST00000394709.1_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron	p.A71T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	593	+			71					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.211G>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995842	0.74703	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01015	5.44;5.44	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.03739	0.0106	M	0.75085	2.285	0.58432	D	0.999999	P	0.43607	0.812	P	0.49192	0.602	T	0.33701	-0.9858	10	0.87932	D	0	0.4442	19.1451	0.93461	0.0:0.0:1.0:0.0	.	71	P54652	HSP72_HUMAN	T	71	ENSP00000378199:A71T;ENSP00000247207:A71T	ENSP00000247207:A71T	A	+	1	0	HSPA2	64077531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		0.612	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			50	217	0	0	0	1	0	50	217					A	65007778	G	A	65007778	3	1	79	1	0	0	0	0	1	0	0	0	7441	1087	38	1	213	1	HSPA2	14	65007778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18999	65007778	42341762	14752	25069											
HSPA2	3306	broad.mit.edu	37	chr14	65008035	65008035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcaacgactcgcagcgCcaggccaccaaggacgcagg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000394709.1	+	2	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000247207.6_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	156					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(466-468)cgC>cgT		heat shock 70kDa protein 2							44	45	44					14																	65008035		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008035C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.468C>T	14.37:g.65008035C>T						HSPA2_ENST00000394709.1_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron	p.R156R	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	850	+			156					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.468C>T	CCDS9766.1																																																																																				0.637	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			63	293	0	0	0	1	0	63	293					T	65008035	C	T	65008035	2	4	79	1	0	0	0	0	0	0	0	1	7441	726	26	2		2	HSPA2	14	65008035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	65008035	42341505	14753	25070											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208098	65208098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcggagcagcgtggcacaGgaggacagcaagtccagtgg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65208098G>T	ENST00000394691.1	+	16	2010	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q565H|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	621							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTGGCACAGGAGGACAGCA	0.667																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1693-1695)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							41	45	44					14																	65208098		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208098G>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1863G>T	14.37:g.65208098G>T	ENSP00000378183:p.Gln621His					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.Q621H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H	p.Q565H	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2003	+			621					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1695G>T		.	.	.	.	.	.	.	.	.	.	G	7.951	0.744777	0.15710	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.67	2.84	0.33178	.	0.512935	0.17080	N	0.187808	T	0.73426	0.3585	N	0.14661	0.345	0.21933	N	0.999463	P;P;B;B	0.40515	0.719;0.502;0.31;0.436	B;B;B;B	0.39152	0.243;0.243;0.153;0.292	T	0.64076	-0.6492	10	0.44086	T	0.13	.	4.7219	0.12922	0.302:0.0:0.5582:0.1398	.	154;126;621;565	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	H	565;621;154;126	ENSP00000247226:Q565H;ENSP00000378183:Q621H;ENSP00000450945:Q154H;ENSP00000450973:Q126H	ENSP00000247226:Q565H	Q	+	3	2	PLEKHG3	64277851	0.036000	0.19791	0.530000	0.27963	0.150000	0.21749	0.287000	0.18920	0.338000	0.23692	-0.140000	0.14226	CAG		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	279	1	0	8.12818e-05	1	8.2724e-05	7	279					T	65208098	G	T	65208098	3	4	79	1	0	0	0	0	1	0	0	0	12112	991	35	3	1745	3	PLEKHG3	14	65208098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200063	65208098	42141442	14754	25071											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccgcggcccacccgTcaacaggagccactcggtgc	12	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000394691.1	+	17	3374	c.3227T>C	c.(3226-3228)gTc>gCc	p.V1076A	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V1020A|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1076							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ggcccACCCGTCAACAGGAGC	0.716																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3058-3060)gTc>gCc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							11	15	14					14																	65209988		2148	4220	6368	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209988T>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3227T>C	14.37:g.65209988T>C	ENSP00000378183:p.Val1076Ala					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.V1076A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000492928.1_Intron	p.V1020A	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3367	+			1076					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3059T>C		.	.	.	.	.	.	.	.	.	.	T	15.62	2.886197	0.51908	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.68765	0.11;-0.35;1.07;1.07	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000116	T	0.78426	0.4281	M	0.61703	1.905	0.29738	N	0.83737	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.79784	0.99;0.99;0.984;0.993	T	0.75314	-0.3361	10	0.38643	T	0.18	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	609;581;1076;1020	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	A	1020;1076;609;581	ENSP00000247226:V1020A;ENSP00000378183:V1076A;ENSP00000450945:V609A;ENSP00000450973:V581A	ENSP00000247226:V1020A	V	+	2	0	PLEKHG3	64279741	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	5.053000	0.64269	1.987000	0.57996	0.533000	0.62120	GTC		0.716	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		10	289	0	0	0	1	0	10	289					C	65209988	T	C	65209988	3	2	79	1	0	0	0	0	1	0	0	0	12112	1667	58	4	3113	4	PLEKHG3	14	65209988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1890	65209988	42139552	14755	25072											
SPTB	6710	broad.mit.edu	37	chr14	65241151	65241151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcaggccctgggccCggctggccagctgcttgatg	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	ENST00000389721.5	-	23	4969	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1646Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1646					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGGGCCCGGCTGGCCAG	0.662																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4936-4938)cGg>cAg		spectrin, beta, erythrocytic							10	12	12					14																	65241151		2173	4273	6446	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65241151C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4937G>A	14.37:g.65241151C>T	ENSP00000374371:p.Arg1646Gln					SPTB_ENST00000389721.5_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q	p.R1646Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	23	4990	-		all_lung(585;4.15e-09)	1646					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4937G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543007	0.13250	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.39	5.39	0.77823	.	0.063876	0.64402	D	0.000005	T	0.21468	0.0517	N	0.11427	0.14	0.41463	D	0.988053	P;B;B	0.37636	0.603;0.356;0.306	B;B;B	0.20955	0.032;0.02;0.009	T	0.15636	-1.0430	10	0.16896	T	0.51	.	11.432	0.50047	0.0:0.916:0.0:0.084	.	430;1646;1650	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1650;1646;430;311;1646;1646;1646;1646	ENSP00000374372:R1646Q;ENSP00000451324:R311Q;ENSP00000451752:R1646Q;ENSP00000374371:R1646Q;ENSP00000443882:R1646Q;ENSP00000374370:R1646Q	ENSP00000334218:R430Q	R	-	2	0	SPTB	64310904	0.271000	0.24162	0.980000	0.43619	0.417000	0.31264	1.666000	0.37460	2.516000	0.84829	0.542000	0.68232	CGG		0.662	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			8	20	0	0	0	1	0	8	20					T	65241151	C	T	65241151	3	4	79	1	0	0	0	0	1	0	0	0	15170	652	23	1	2170	1	SPTB	14	65241151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	65241151	42108389	14756	25073											
SPTB	6710	broad.mit.edu	37	chr14	65249188	65249188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggtggcctgcagctcGtcccagagccggtgcagggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000389721.5	-	19	4118	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000389722.3_Silent_p.D1362D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1362					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4084-4086)gaC>gaT		spectrin, beta, erythrocytic							105	109	108					14																	65249188		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65249188G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4086C>T	14.37:g.65249188G>A						SPTB_ENST00000389721.5_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D	p.D1362D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	19	4139	-		all_lung(585;4.15e-09)	1362					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4086C>T	CCDS32100.1																																																																																				0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			157	753	0	0	0	1	0	157	753					A	65249188	G	A	65249188	2	1	79	1	0	0	0	0	0	0	0	1	15170	1136	40	1		1	SPTB	14	65249188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8037	65249188	42100352	14757	25074											
SPTB	6710	broad.mit.edu	37	chr14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggatcactttctccccaGactccttaacacgctggtag	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000389721.5	-	15	3400	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1123					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3367-3369)tCt>tTt		spectrin, beta, erythrocytic							87	75	79					14																	65253315		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253315G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3368C>T	14.37:g.65253315G>A	ENSP00000374371:p.Ser1123Phe					SPTB_ENST00000389721.5_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F	p.S1123F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3421	-		all_lung(585;4.15e-09)	1123					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3368C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221703	0.09863	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.89	4.89	0.63831	.	0.196582	0.44483	D	0.000454	T	0.30070	0.0753	N	0.16368	0.405	0.37834	D	0.928837	B;B	0.33171	0.4;0.081	B;B	0.38194	0.267;0.028	T	0.19192	-1.0313	10	0.13108	T	0.6	.	7.8989	0.29723	0.1794:0.0:0.8206:0.0	.	1123;1127	P11277;Q59FP5	SPTB1_HUMAN;.	F	1127;1123;1123;1123;1123;1123	ENSP00000374372:S1123F;ENSP00000451752:S1123F;ENSP00000374371:S1123F;ENSP00000443882:S1123F;ENSP00000374370:S1123F	ENSP00000374370:S1123F	S	-	2	0	SPTB	64323068	0.002000	0.14202	0.911000	0.35937	0.930000	0.56654	0.780000	0.26760	2.430000	0.82344	0.549000	0.68633	TCT		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			61	234	0	0	0	1	0	61	234					A	65253315	G	A	65253315	3	1	79	1	0	0	0	0	1	0	0	0	15170	942	33	2	3771	2	SPTB	14	65253315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4127	65253315	42096225	14758	25075											
SPTB	6710	broad.mit.edu	37	chr14	65253542	65253542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggccctgcagggattgCtgcaggccctgccacagctc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000389721.5	-	15	3173	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000389722.3_Silent_p.Q1047Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGGATTGCTGCAGGCCCT	0.612																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3139-3141)caG>caA		spectrin, beta, erythrocytic							53	58	56					14																	65253542		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253542C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3141G>A	14.37:g.65253542C>T						SPTB_ENST00000389721.5_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q	p.Q1047Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3194	-		all_lung(585;4.15e-09)	1047					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.3141G>A	CCDS32100.1																																																																																				0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			14	451	0	0	0	1	0	14	451					T	65253542	C	T	65253542	2	4	79	1	0	0	0	0	0	0	0	1	15170	796	28	2		2	SPTB	14	65253542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	65253542	42095998	14759	25076											
SPTB	6710	broad.mit.edu	37	chr14	65260266	65260266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcccaaactgcttgcgCgcaaccatgccatgagcctc	11	15	0	1	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000389721.5	-	13	2147	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000389722.3_Silent_p.A705A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	705					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592													c|||	4	0.000798722	0.003	0.0	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2113-2115)gcG>gcA		spectrin, beta, erythrocytic		T	,	6,4400	11.4+/-27.6	0,6,2197	64	55	58		2115,2115	-9.4	0	14	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	705/2138,705/2329	65260266	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260266C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2115G>A	14.37:g.65260266C>T						SPTB_ENST00000389721.5_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A	p.A705A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2168	-		all_lung(585;4.15e-09)	705					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2115G>A	CCDS32100.1																																																																																				0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			49	189	0	0	0	1	0	49	189					T	65260266	C	T	65260266	2	4	79	1	0	0	0	0	0	0	0	1	15170	755	27	1		1	SPTB	14	65260266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6724	65260266	42089274	14760	25077											
SPTB	6710	broad.mit.edu	37	chr14	65263370	65263370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctctagcttctcctgccGaatgagctcatttctcaggg	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65263370G>A	ENST00000389721.5	-	10	1278	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000389722.3_Missense_Mutation_p.R416W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	416					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCCTGCCGAATGAGCTCA	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1246-1248)Cgg>Tgg		spectrin, beta, erythrocytic							58	60	60					14																	65263370		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65263370G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1246C>T	14.37:g.65263370G>A	ENSP00000374371:p.Arg416Trp					SPTB_ENST00000389721.5_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W	p.R416W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	10	1299	-		all_lung(585;4.15e-09)	416					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1246C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334333	0.81801	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91821	0.5467	10	0.87932	D	0	.	14.3709	0.66838	0.0:0.0:0.8514:0.1485	.	416;420	P11277;Q59FP5	SPTB1_HUMAN;.	W	420;416;416;416;416;416	ENSP00000374372:R416W;ENSP00000451752:R416W;ENSP00000374371:R416W;ENSP00000443882:R416W;ENSP00000374370:R416W	ENSP00000374370:R416W	R	-	1	2	SPTB	64333123	1.000000	0.71417	0.990000	0.47175	0.846000	0.48090	3.197000	0.51028	2.756000	0.94617	0.655000	0.94253	CGG		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			7	303	0	0	0	1	0	7	303					A	65263370	G	A	65263370	3	1	79	1	0	0	0	0	1	0	0	0	15170	1057	37	1	5913	1	SPTB	14	65263370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3104	65263370	42086170	14761	25078											
GPX2	2877	broad.mit.edu	37	chr14	65409265	65409265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagccaaggaccaccagGcgcctgggaaagcggcattg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	60					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(178-180)cgC>cgT		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						81	86	85					14																	65409265		1953	4119	6072	SO:0001819	synonymous_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65409265G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.180C>T	14.37:g.65409265G>A						CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.R60R	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	1	266	-			60					Q6PJ52|Q8WWI7|Q9NRP9	Silent	SNP	ENST00000389614.5	37	c.180C>T	CCDS41964.1																																																																																				0.587	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			68	426	0	0	0	1	0	68	426					A	65409265	G	A	65409265	2	1	79	1	0	0	0	0	0	0	0	1	6770	1190	42	2		2	GPX2	14	65409265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145895	65409265	41940275	14762	25079											
RAB15	376267	broad.mit.edu	37	chr14	65417744	65417744	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcgccttgccttcccCggtgaggcaccctctccaca	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65417744C>T	ENST00000533601.2	-	4	662				CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.P78P|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000267512.5_Silent_p.P124P			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TTGCCTTCCCCGGTGAGGCAC	0.597																																						ENST00000267512.5																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(370-372)ccG>ccA		RAB15, member RAS oncogene family							65	59	61					14																	65417744		2203	4300	6503	SO:0001627	intron_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417744C>T	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.324+47G>A	14.37:g.65417744C>T						CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000533601.2_Intron|RAB15_ENST00000436278.2_Silent_p.P78P	p.P124P	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	452	-			0					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.372G>A																																																																																					0.597	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		10	275	0	0	0	1	0	10	275					T	65417744	C	T	65417744	1	4	79	0	1	0	0	0	0	0	0	0	12951	639	23	1		1	RAB15	14	65417744	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8479	65417744	41931796	14763	25080											
GPHN	10243	broad.mit.edu	37	chr14	67610094	67610094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagcccagatgacttactCaatgccttgaatgagggtat	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67610094C>T	ENST00000315266.5	+	17	2786	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000478722.1_Silent_p.L588L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.L601L	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	555	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGACTTACTCAATGCCTTGA	0.393			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1762-1764)ctC>ctT		gephyrin							219	221	220					14																	67610094		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67610094C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1665C>T	14.37:g.67610094C>T						GPHN_ENST00000315266.5_Silent_p.L555L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000543237.1_Silent_p.L601L	p.L588L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	18	2885	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	555			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.1764C>T	CCDS32103.1																																																																																				0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		10	617	0	0	0	1	0	10	617					T	67610094	C	T	67610094	2	4	79	1	0	0	0	0	0	0	0	1	6639	813	29	2		2	GPHN	14	67610094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192350	67610094	39739446	14764	25081											
TMEM229B	161145	broad.mit.edu	37	chr14	67940506	67940506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagagggcccacacgctCgtgaccccagggaacttcca	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000557006.1	-	4	417	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000357461.2_Silent_p.T45T			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	45						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627																																						ENST00000357461.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(133-135)acG>acA		transmembrane protein 229B							60	39	46					14																	67940506		2203	4300	6503	SO:0001819	synonymous_variant	161145					integral to membrane		g.chr14:67940506C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.135G>A	14.37:g.67940506C>T						TMEM229B_ENST00000557006.1_Silent_p.T45T	p.T45T	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN			3	544	-			45						Silent	SNP	ENST00000557006.1	37	c.135G>A	CCDS9783.1																																																																																				0.627	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		19	117	0	0	0	1	0	19	117					T	67940506	C	T	67940506	2	4	79	1	0	0	0	0	0	0	0	1	16200	871	31	1		1	TMEM229B	14	67940506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330412	67940506	39409034	14765	25082											
PLEKHH1	57475	broad.mit.edu	37	chr14	68045259	68045259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctggcagtgctggcaGctcctcgctctgtgtgctcc	12	15	1	0	rs188731260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68045259G>A	ENST00000329153.5	+	20	2892	c.2760G>A	c.(2758-2760)caG>caA	p.Q920Q	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	920	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTGCTGGCAGCTCCTCGCTC	0.582													G|||	2	0.000399361	0.0	0.0014	5008	,	,		22029	0.0		0.001	False		,,,				2504	0.0					ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(2758-2760)caG>caA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1		G		4,4370		0,4,2183	49	56	54		2760	3.5	1	14		54	8,8570		0,8,4281	no	coding-synonymous	PLEKHH1	NM_020715.2		0,12,6464	AA,AG,GG		0.0933,0.0914,0.0926		920/1365	68045259	12,12940	2187	4289	6476	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68045259G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2760G>A	14.37:g.68045259G>A							p.Q920Q	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	20	2892	+			920			MyTH4.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.2760G>A	CCDS45128.1																																																																																				0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		8	70	0	0	0	1	0	8	70					A	68045259	G	A	68045259	2	1	79	1	0	0	0	0	0	0	0	1	12118	962	34	2		2	PLEKHH1	14	68045259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104753	68045259	39304281	14766	25083											
ARG2	384	broad.mit.edu	37	chr14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtatttttccatgagaGatattgatcgacttggtatc	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353																																						ENST00000261783.3																			1	Substitution - Missense(1)	p.D221Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(661-663)Gat>Tat		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						96	93	94					14																	68113681		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113681G>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.661G>T	14.37:g.68113681G>T	ENSP00000261783:p.Asp221Tyr						p.D221Y	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	6	841	+			221					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.661G>T	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	ARG2	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT		0.353	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		56	291	1	0	1.19403e-26	1	1.3775e-26	56	291					T	68113681	G	T	68113681	3	4	79	1	0	0	0	0	1	0	0	0	858	942	33	3	683	3	ARG2	14	68113681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68422	68113681	39235859	14767	25084											
RDH11	51109	broad.mit.edu	37	chr14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggttgactcctatgtgcatCtcaaagccatctgctgtctt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D|RP11-1012A1.4_ENST00000553306.1_5'Flank|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	143					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468																																						ENST00000381346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12						c.(427-429)gaG>gaT		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						268	252	257					14																	68157882		2203	4300	6503	SO:0001583	missense	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68157882C>A	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.429G>T	14.37:g.68157882C>A	ENSP00000370750:p.Glu143Asp					RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D	p.E143D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	4	539	-			143					A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	c.429G>T	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.07	2.0	0.26442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.60455	1.87	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88357	0.2985	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.6434:0.0:0.3566	.	143;130;143	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	143;130;143;42;91	ENSP00000370750:E143D;ENSP00000452079:E130D;ENSP00000416395:E143D;ENSP00000450802:E42D;ENSP00000450435:E91D	ENSP00000370750:E143D	E	-	3	2	RDH11	67227635	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.728000	0.47319	0.081000	0.16988	-0.482000	0.04802	GAG		0.468	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			36	1177	1	0	4.26978e-12	1	4.57227e-12	36	1177					A	68157882	C	A	68157882	3	1	79	1	0	0	0	0	1	0	0	0	13240	912	32	3	543	3	RDH11	14	68157882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44201	68157882	39191658	14768	25085											
RDH11	51109	broad.mit.edu	37	chr14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccctgtcgtggtctggaTctctttggccaccaattccc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L|RP11-1012A1.4_ENST00000553306.1_5'Flank|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483																																						ENST00000381346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12						c.(253-255)Atc>Ctc		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						213	202	206					14																	68159251		2203	4300	6503	SO:0001583	missense	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68159251T>G	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.253A>C	14.37:g.68159251T>G	ENSP00000370750:p.Ile85Leu					RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L	p.I85L	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	3	363	-			85					A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	c.253A>C	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923609	0.73213	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130	D;D;D	0.84223	-1.82;-1.82;-1.82	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	N	0.21617	0.685	0.58432	D	0.999999	P;P;P	0.43477	0.756;0.808;0.551	P;P;P	0.50754	0.555;0.517;0.649	D	0.84727	0.0743	10	0.49607	T	0.09	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	85;72;85	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	85;72;85	ENSP00000370750:I85L;ENSP00000452079:I72L;ENSP00000416395:I85L	ENSP00000370750:I85L	I	-	1	0	RDH11	67229004	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	6.738000	0.74822	2.048000	0.60808	0.528000	0.53228	ATC		0.483	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			158	807	0	0	0	1	0	158	807					G	68159251	T	G	68159251	3	3	79	1	0	0	0	0	1	0	0	0	13240	1435	50	4	723	4	RDH11	14	68159251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1369	68159251	39190289	14769	25086											
ZFYVE26	23503	broad.mit.edu	37	chr14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T													gcacgtggcgataggcagcaGcaactaaaatattcagcaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2017					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATAGGCAGCAGCAACTAAAAT	0.498																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(6049-6051)gCt>gAt		zinc finger, FYVE domain containing 26							85	74	78					14																	68229498		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68229498G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6050C>A	14.37:g.68229498G>T	ENSP00000251119:p.Ala2017Asp					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	33	6188	-			2017					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6050C>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252266	0.80135	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.62	2.78	0.32641	.	0.232813	0.43747	D	0.000530	T	0.41511	0.1162	L	0.46157	1.445	0.43426	D	0.995587	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.879	T	0.07809	-1.0753	10	0.31617	T	0.26	-0.1938	8.2721	0.31851	0.1347:0.0:0.7368:0.1285	.	2017;2017	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	2017;1996;2017	ENSP00000251119:A2017D;ENSP00000450603:A2017D	ENSP00000251119:A2017D	A	-	2	0	ZFYVE26	67299251	0.325000	0.24660	0.983000	0.44433	0.994000	0.84299	2.240000	0.43088	0.316000	0.23135	0.563000	0.77884	GCT		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		24	148	1	0	2.44723e-14	1	2.65813e-14	24	148					T	68229498	G	T	68229498	3	4	79	1	0	0	0	0	1	0	0	0	17721	971	34	3	1609	3	ZFYVE26	14	68229498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70247	68229498	39120042	14770	25087	155	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G													cgtggcgataggcagcagcaActaaaatattcagcacatct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2016					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCAGCAGCAACTAAAATATT	0.488																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(6046-6048)gTt>gCt		zinc finger, FYVE domain containing 26							83	72	76					14																	68229501		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68229501A>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6047T>C	14.37:g.68229501A>G	ENSP00000251119:p.Val2016Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	33	6185	-			2016					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6047T>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209454	0.95069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.28;1.12	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60125	-0.7324	10	0.52906	T	0.07	-14.7705	15.8326	0.78769	1.0:0.0:0.0:0.0	.	2016;2016	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	2016;1995;2016	ENSP00000251119:V2016A;ENSP00000450603:V2016A	ENSP00000251119:V2016A	V	-	2	0	ZFYVE26	67299254	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.339000	0.96797	2.146000	0.66826	0.460000	0.39030	GTT		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		25	139	0	0	0	1	0	25	139					G	68229501	A	G	68229501	3	3	79	1	0	0	0	0	1	0	0	0	17721	43	2	4	1612	4	ZFYVE26	14	68229501	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3	68229501	39120039	14771	25088	155	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactccaggacctccaggTgagcccacaacccatcacag	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	412					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACCTCCAGGTGAGCCCACAA	0.602																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1234-1236)cAc>cGc		zinc finger, FYVE domain containing 26							63	51	55					14																	68271970		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68271970T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1235A>G	14.37:g.68271970T>C	ENSP00000251119:p.His412Arg					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	8	1373	-			412					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1235A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927777	0.73327	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.9	5.9	0.94986	.	0.053647	0.85682	D	0.000000	T	0.43545	0.1252	L	0.51422	1.61	0.42057	D	0.991149	D;D;P	0.67145	0.996;0.992;0.842	P;P;B	0.62089	0.898;0.77;0.138	T	0.21895	-1.0232	10	0.46703	T	0.11	-19.8127	16.3196	0.82941	0.0:0.0:0.0:1.0	.	412;412;412	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	412;391;412	ENSP00000251119:H412R;ENSP00000450603:H412R	ENSP00000251119:H412R	H	-	2	0	ZFYVE26	67341723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	CAC		0.602	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		14	130	0	0	0	1	0	14	130					C	68271970	T	C	68271970	3	2	79	1	0	0	0	0	1	0	0	0	17721	1696	59	4	6524	4	ZFYVE26	14	68271970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42469	68271970	39077570	14772	25089											
ACTN1	87	broad.mit.edu	37	chr14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccggttctccagccacGggattgtgcggcggatccac	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000193403.6	-	10	1267	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	295	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCAGCCACGGGATTGTGCG	0.657																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(883-885)cCg>cTg		actinin, alpha 1							61	59	60					14																	69358972		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69358972G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.884C>T	14.37:g.69358972G>A	ENSP00000193403:p.Pro295Leu					ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L	p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	10	1267	-			295			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.884C>T	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224766	0.95173	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616	T;T;T;T;T;T	0.66995	0.75;0.75;0.75;0.75;0.75;-0.24	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.999	P;P;D;D	0.71656	0.761;0.841;0.974;0.955	T	0.82190	-0.0580	10	0.72032	D	0.01	.	17.6725	0.88222	0.0:0.0:1.0:0.0	.	295;295;295;295	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	L	295;295;295;230;295;230	ENSP00000193403:P295L;ENSP00000377941:P295L;ENSP00000414272:P295L;ENSP00000366035:P230L;ENSP00000439828:P295L;ENSP00000450903:P230L	ENSP00000193403:P295L	P	-	2	0	ACTN1	68428725	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.641000	0.98458	2.383000	0.81215	0.643000	0.83706	CCG		0.657	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		79	381	0	0	0	1	0	79	381					A	69358972	G	A	69358972	3	1	79	1	0	0	0	0	1	0	0	0	204	1116	39	1	1912	1	ACTN1	14	69358972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1087002	69358972	37990568	14773	25090											
DCAF5	8816	broad.mit.edu	37	chr14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccacttgtaagctttataAatttttcgctcaactgattc	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	660					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1978-1980)atT>atG		DDB1 and CUL4 associated factor 5							60	66	64					14																	69521423		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521423A>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1980T>G	14.37:g.69521423A>C	ENSP00000341351:p.Ile660Met					DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M	p.I660M	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	2127	-			660					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1980T>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589626	0.46214	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76060	-0.99;-0.83;-0.83;-0.43	5.52	3.18	0.36537	.	0.000000	0.64402	D	0.000004	T	0.75817	0.3901	L	0.32530	0.975	0.42590	D	0.993244	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75099	-0.3437	10	0.62326	D	0.03	-9.6901	6.6175	0.22784	0.6408:0.0:0.3592:0.0	.	659;660	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	660;578;578;659	ENSP00000341351:I660M;ENSP00000451551:I578M;ENSP00000452052:I578M;ENSP00000451845:I659M	ENSP00000341351:I660M	I	-	3	3	DCAF5	68591176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.686000	0.37669	0.933000	0.37291	0.459000	0.35465	ATT		0.498	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		80	353	0	0	0	1	0	80	353					C	69521423	A	C	69521423	3	2	79	1	0	0	0	0	1	0	0	0	4284	10	1	4	852	4	DCAF5	14	69521423	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162451	69521423	37828117	14774	25091											
EXD2	55218	broad.mit.edu	37	chr14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcacttctacaaatgGcctccccaagtggcctgtgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409018.3	+	3	507	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409014.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	127							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(4-6)Gcc>Acc		exonuclease 3'-5' domain containing 2							68	63	65					14																	69695578		2203	4300	6503	SO:0001583	missense	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69695578G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.379G>A	14.37:g.69695578G>A	ENSP00000387331:p.Ala127Thr					EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409018.3_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T	p.A2T	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			5	661	+			2					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.4G>A	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649751	0.87958	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.77229	-0.12;-0.6;-0.6;-0.6;-0.6;-0.12;-1.08;-0.6	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.095984	0.64402	D	0.000001	D	0.88800	0.6535	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;0.988	D;D	0.77557	0.99;0.932	D	0.89341	0.3654	10	0.72032	D	0.01	-13.0244	19.686	0.95979	0.0:0.0:1.0:0.0	.	127;2	G5E947;Q9NVH0	.;EXD2_HUMAN	T	127;127;2;2;2;2;127;2;2	ENSP00000387331:A127T;ENSP00000386915:A2T;ENSP00000386762:A2T;ENSP00000386632:A2T;ENSP00000386839:A2T;ENSP00000313140:A127T;ENSP00000409089:A2T;ENSP00000392177:A2T	ENSP00000193422:A127T	A	+	1	0	EXD2	68765331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.677000	0.61634	2.659000	0.90383	0.563000	0.77884	GCC		0.498	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			18	186	0	0	0	1	0	18	186					A	69695578	G	A	69695578	3	1	79	1	0	0	0	0	1	0	0	0	5316	1203	42	2	6	2	EXD2	14	69695578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174155	69695578	37653962	14775	25092											
SLC39A9	55334	broad.mit.edu	37	chr14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccagttatgtccatGgtgacatacttaggactgag	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000336643.5	+	6	1347	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	223					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(469-471)atG>atT		solute carrier family 39, member 9							129	116	120					14																	69922559		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69922559G>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.669G>T	14.37:g.69922559G>T	ENSP00000336887:p.Met223Ile					SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.M223I	p.M157I			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	5	1149	+			223					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.471G>T	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007382	0.19199	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.40756	1.02;1.02;1.02	5.19	5.19	0.71726	.	0.035383	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00405	-1.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.003	B;B;B	0.10450	0.002;0.004;0.005	T	0.37776	-0.9691	10	0.02654	T	1	-17.3407	18.8944	0.92417	0.0:0.0:1.0:0.0	.	200;223;223	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	223;223;200	ENSP00000452385:M223I;ENSP00000336887:M223I;ENSP00000451833:M200I	ENSP00000031146:M223I	M	+	3	0	SLC39A9	68992312	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.674000	0.83992	2.696000	0.92011	0.467000	0.42956	ATG		0.413	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		96	401	1	0	1.45819e-31	1	1.71742e-31	96	401					T	69922559	G	T	69922559	3	4	79	1	0	0	0	0	1	0	0	0	14675	1348	47	3	691	3	SLC39A9	14	69922559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226981	69922559	37426981	14776	25093											
SLC10A1	6554	broad.mit.edu	37	chr14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccttgatgacatagcGcatgtattgtggccgtttgg	11	8	1	2	rs200149939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	185					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	ATGACATAGCGCATGTATTGT	0.403																																						ENST00000216540.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14						c.(553-555)Cgc>Tgc		solute carrier family 10 (sodium/bile acid cotransporter), member 1		G	CYS/ARG	1,4405		0,1,2202	169	146	154		553	3.2	0.4	14		154	0,8600		0,0,4300	no	missense	SLC10A1	NM_003049.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	185/350	70252828	1,13005	2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252828G>A	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.553C>T	14.37:g.70252828G>A	ENSP00000216540:p.Arg185Cys						p.R185C	NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	686	-			185					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.553C>T	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	3.033	-0.199272	0.06219	2.27E-4	0.0	ENSG00000100652	ENST00000216540	T	0.12672	2.66	5.01	3.15	0.36227	.	0.641375	0.16982	N	0.191666	T	0.19287	0.0463	M	0.80183	2.485	0.09310	N	1	B	0.21147	0.052	B	0.16722	0.016	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.434	9.8085	0.40808	0.0762:0.3746:0.5491:0.0	.	185	Q14973	NTCP_HUMAN	C	185	ENSP00000216540:R185C	ENSP00000216540:R185C	R	-	1	0	SLC10A1	69322581	0.002000	0.14202	0.444000	0.26895	0.010000	0.07245	0.911000	0.28584	0.793000	0.33875	-0.305000	0.09177	CGC		0.403	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			55	296	0	0	0	1	0	55	296					A	70252828	G	A	70252828	3	1	79	1	0	0	0	0	1	0	0	0	14423	1087	38	1	512	1	SLC10A1	14	70252828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330269	70252828	37096712	14777	25094											
SLC10A1	6554	broad.mit.edu	37	chr14	70252875	70252875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgatccctatggtgcaaGgaatgagaaccaggaccagt	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252875G>T	ENST00000216540.4	-	2	639	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	169					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	TATGGTGCAAGGAATGAGAAC	0.493																																						ENST00000216540.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14						c.(505-507)cCt>cAt		solute carrier family 10 (sodium/bile acid cotransporter), member 1							226	186	200					14																	70252875		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252875G>T	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.506C>A	14.37:g.70252875G>T	ENSP00000216540:p.Pro169His						p.P169H	NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	639	-			169					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.506C>A	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450879	0.43531	.	.	ENSG00000100652	ENST00000216540	T	0.76709	-1.04	4.89	4.89	0.63831	.	0.176981	0.50627	D	0.000110	D	0.87394	0.6166	H	0.96430	3.82	0.58432	D	0.999997	P	0.39809	0.689	B	0.42882	0.401	D	0.91155	0.4956	10	0.87932	D	0	-16.08	18.2073	0.89859	0.0:0.0:1.0:0.0	.	169	Q14973	NTCP_HUMAN	H	169	ENSP00000216540:P169H	ENSP00000216540:P169H	P	-	2	0	SLC10A1	69322628	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.024000	0.93689	2.700000	0.92200	0.561000	0.74099	CCT		0.493	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			82	367	1	0	4.03997e-35	1	4.81766e-35	82	367					T	70252875	G	T	70252875	3	4	79	1	0	0	0	0	1	0	0	0	14423	1000	35	3	559	3	SLC10A1	14	70252875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	70252875	37096665	14778	25095											
SMOC1	64093	broad.mit.edu	37	chr14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgcccgcgcgctgcGcccgcctgctcacgccccac	10	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	7					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(19-21)Gcc>Acc		SPARC related modular calcium binding 1							6	7	7					14																	70346414		2127	4163	6290	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70346414G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.19G>A	14.37:g.70346414G>A	ENSP00000370680:p.Ala7Thr					SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	1	272	+			7					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.19G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815761	0.32145	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57752	0.38;0.39	5.1	3.23	0.37069	.	0.925262	0.08828	U	0.887818	T	0.27063	0.0663	N	0.08118	0	0.21897	N	0.999486	B;B	0.29805	0.257;0.167	B;B	0.19666	0.026;0.012	T	0.13629	-1.0502	10	0.11182	T	0.66	-2.7874	7.5362	0.27712	0.0926:0.1659:0.7415:0.0	.	7;7	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	7	ENSP00000355110:A7T;ENSP00000370680:A7T	ENSP00000355110:A7T	A	+	1	0	SMOC1	69416167	0.973000	0.33851	1.000000	0.80357	0.343000	0.28985	0.343000	0.19944	1.141000	0.42275	0.306000	0.20318	GCC		0.736	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			11	62	0	0	0	1	0	11	62					A	70346414	G	A	70346414	3	1	79	1	0	0	0	0	1	0	0	0	14851	1087	38	1	21	1	SMOC1	14	70346414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93539	70346414	37003126	14779	25096											
SLC8A3	6547	broad.mit.edu	37	chr14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctctgtgaactcatagtCagcccctgcattggcagaac	9	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	445	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACTCATAGTCAGCCCCTGCA	0.512																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1333-1335)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 3							148	140	143					14																	70633807		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633807C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1333G>A	14.37:g.70633807C>T	ENSP00000370669:p.Asp445Asn					SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N	p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2086	-			445			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1333G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129873	0.77549	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.86941	0.2079	10	0.54805	T	0.06	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	445;445;445;445	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	445	ENSP00000349392:D445N;ENSP00000370669:D445N;ENSP00000350560:D445N;ENSP00000436688:D445N;ENSP00000433531:D445N	ENSP00000349392:D445N	D	-	1	0	SLC8A3	69703560	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAC		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			187	742	0	0	0	1	0	187	742					T	70633807	C	T	70633807	3	4	79	1	0	0	0	0	1	0	0	0	14758	826	29	2	1589	2	SLC8A3	14	70633807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287393	70633807	36715733	14780	25097											
ADAM21	8747	broad.mit.edu	37	chr14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttacataattttgattgGaattgaaatttggaatcaag	7	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	257	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTTTGATTGGAATTGAAATT	0.363																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(769-771)gGa>gAa		ADAM metallopeptidase domain 21							57	63	61					14																	70924986		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924986G>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.770G>A	14.37:g.70924986G>A	ENSP00000474385:p.Gly257Glu					ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	p.G257E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1028	+			257			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.770G>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992807	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.11385	2.78	3.86	0.557	0.17260	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44902	D	0.000420	T	0.34279	0.0892	M	0.91406	3.205	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.07501	-1.0769	10	0.87932	D	0	.	8.2495	0.31708	0.0:0.1501:0.5415:0.3084	.	257	Q9UKJ8	ADA21_HUMAN	E	257	ENSP00000267499:G257E	ENSP00000267499:G257E	G	+	2	0	ADAM21	69994739	0.419000	0.25449	0.985000	0.45067	0.259000	0.26198	0.817000	0.27281	0.365000	0.24400	-0.321000	0.08615	GGA		0.363	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			18	409	0	0	0	1	0	18	409					A	70924986	G	A	70924986	3	1	79	1	0	0	0	0	1	0	0	0	243	1174	41	2	772	2	ADAM21	14	70924986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291179	70924986	36424554	14781	25098											
ADAM21	8747	broad.mit.edu	37	chr14	70926319	70926319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgactttcctgtttactgtCgggcttcttatgtatctacg	8	9	2	1	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													c|||	2	0.000399361	0.0015	0.0	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.0					ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(2101-2103)gtC>gtT		ADAM metallopeptidase domain 21		T		6,4400	11.4+/-27.6	0,6,2197	81	74	77		2103	-2.4	0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70926319C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2103C>T	14.37:g.70926319C>T						ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	2361	+			701					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.2103C>T	CCDS9804.1																																																																																				0.413	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			84	349	0	0	0	1	0	84	349					T	70926319	C	T	70926319	2	4	79	1	0	0	0	0	0	0	0	1	243	871	31	1		1	ADAM21	14	70926319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1333	70926319	36423221	14782	25099											
ADAM20	8748	broad.mit.edu	37	chr14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctctgcccctgctgaTcaccttcaaagggatcacca	7	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	49					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(295-297)Atc>Ctc		ADAM metallopeptidase domain 20							81	73	76					14																	70991330		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991330T>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.295A>C	14.37:g.70991330T>G	ENSP00000256389:p.Ile99Leu					RP11-486O13.4_ENST00000556646.1_lincRNA	p.I99L	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	539	-			49					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.295A>C	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	8.508	0.865782	0.17250	.	.	ENSG00000134007	ENST00000256389	T	0.05649	3.41	4.14	0.241	0.15494	Peptidase M12B, propeptide (1);	0.390677	0.17933	U	0.157114	T	0.04588	0.0125	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33752	-0.9856	10	0.66056	D	0.02	.	6.0527	0.19794	0.0:0.0836:0.3142:0.6021	.	49	O43506	ADA20_HUMAN	L	99	ENSP00000256389:I99L	ENSP00000256389:I99L	I	-	1	0	ADAM20	70061083	0.000000	0.05858	0.075000	0.20258	0.177000	0.22998	-0.244000	0.08903	-0.048000	0.13401	0.528000	0.53228	ATC		0.517	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			84	286	0	0	0	1	0	84	286					G	70991330	T	G	70991330	3	3	79	1	0	0	0	0	1	0	0	0	242	1435	50	4	2039	4	ADAM20	14	70991330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65011	70991330	36358210	14783	25100											
TTC9	23508	broad.mit.edu	37	chr14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccccggggaacgggagCgggactcgcgcccggcctcc	16	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTD-2540L5.6_ENST00000500016.1_lincRNA|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	99										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657																																						ENST00000256367.2																			0				skin(1)	1						c.(295-297)Cgg>Tgg		tetratricopeptide repeat domain 9							8	9	9					14																	71109141		1805	3996	5801	SO:0001583	missense	23508						binding	g.chr14:71109141C>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.295C>T	14.37:g.71109141C>T	ENSP00000256367:p.Arg99Trp						p.R99W	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	1	638	+			99					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.295C>T	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327117	0.41197	.	.	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.08	2.0	0.26442	Tetratricopeptide-like helical (1);	1.444650	0.04344	N	0.354604	T	0.26304	0.0642	L	0.34521	1.04	0.20403	N	0.999902	D	0.63880	0.993	P	0.50352	0.638	T	0.31613	-0.9937	10	0.66056	D	0.02	-7.537	9.1798	0.37134	0.2773:0.5867:0.136:0.0	.	99	Q92623	TTC9A_HUMAN	W	99	ENSP00000256367:R99W	ENSP00000256367:R99W	R	+	1	2	TTC9	70178894	0.963000	0.33076	0.984000	0.44739	0.193000	0.23685	0.935000	0.28924	1.029000	0.39812	0.555000	0.69702	CGG		0.657	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		12	54	0	0	0	1	0	12	54					T	71109141	C	T	71109141	3	4	79	1	0	0	0	0	1	0	0	0	16769	759	27	1	297	1	TTC9	14	71109141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117811	71109141	36240399	14784	25101											
TTC9	23508	broad.mit.edu	37	chr14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccatagcctgcctgCtccaggctgagctggtaaac	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	139										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512																																						ENST00000256367.2																			0				skin(1)	1						c.(415-417)Ctc>Atc		tetratricopeptide repeat domain 9							50	49	49					14																	71134289		1967	4177	6144	SO:0001583	missense	23508						binding	g.chr14:71134289C>A	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.415C>A	14.37:g.71134289C>A	ENSP00000256367:p.Leu139Ile						p.L139I	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	758	+			139					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.415C>A	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937230	0.52972	.	.	ENSG00000133985	ENST00000256367	T	0.21932	1.98	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000021	T	0.44726	0.1307	L	0.58101	1.795	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.23297	-1.0192	10	0.48119	T	0.1	-20.3401	18.5279	0.90980	0.0:1.0:0.0:0.0	.	139	Q92623	TTC9A_HUMAN	I	139	ENSP00000256367:L139I	ENSP00000256367:L139I	L	+	1	0	TTC9	70204042	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	3.420000	0.52735	2.596000	0.87737	0.655000	0.94253	CTC		0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		43	185	1	0	2.56175e-15	1	2.79687e-15	43	185					A	71134289	C	A	71134289	3	1	79	1	0	0	0	0	1	0	0	0	16769	797	28	3	421	3	TTC9	14	71134289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25148	71134289	36215251	14785	25102											
MAP3K9	4293	broad.mit.edu	37	chr14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgctgcagtgcagcccGcgtcagctcctcctcccagg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453					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)			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)		AGTGCAGCCCGCGTCAGCTCC	0.627																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				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						c.(1357-1359)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 9							38	36	36					14																	71209278		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209278G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1357C>T	14.37:g.71209278G>A	ENSP00000451612:p.Arg453Trp					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W	p.R453W			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	6	1356	-			453					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683396	0.68157	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	6.06	5.12	0.69794	Protein kinase-like domain (1);	0.115517	0.64402	D	0.000011	D	0.90417	0.7000	M	0.71871	2.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	D	0.90899	0.4767	10	0.87932	D	0	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	190;453;453;147	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	453;453;147;453;190;181	ENSP00000451612:R453W;ENSP00000451038:R147W;ENSP00000370649:R453W;ENSP00000451921:R190W	ENSP00000005198:R453W	R	-	1	2	MAP3K9	70279031	1.000000	0.71417	0.972000	0.41901	0.028000	0.11728	6.623000	0.74238	2.882000	0.98803	0.655000	0.94253	CGG		0.627	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			40	206	0	0	0	1	0	40	206					A	71209278	G	A	71209278	3	1	79	1	0	0	0	0	1	0	0	0	9298	1086	38	1	2031	1	MAP3K9	14	71209278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74989	71209278	36140262	14786	25103											
MAP3K9	4293	broad.mit.edu	37	chr14	71267541	71267541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtcctccacgagcaaaCtccatgaccaagcagaggtt	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000555993.2_Silent_p.E221E|MAP3K9_ENST00000381250.4_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CACGAGCAAACTCCATGACCA	0.522																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				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						c.(661-663)gaG>gaA		mitogen-activated protein kinase kinase kinase 9							104	92	96					14																	71267541		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267541C>T	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.663G>A	14.37:g.71267541C>T						MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	p.E221E			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	662	-			221			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.663G>A																																																																																					0.522	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			52	323	0	0	0	1	0	52	323					T	71267541	C	T	71267541	2	4	79	1	0	0	0	0	0	0	0	1	9298	564	20	2		2	MAP3K9	14	71267541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58263	71267541	36081999	14787	25104											
MAP3K9	4293	broad.mit.edu	37	chr14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcccctatccagaaagcacGatagaccttcccaaagcccc	5	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CAGAAAGCACGATAGACCTTC	0.488																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				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						c.(478-480)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 9							97	92	94					14																	71267726		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267726G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.478C>T	14.37:g.71267726G>A	ENSP00000451612:p.Arg160Cys					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	p.R160C			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	477	-			160			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	G	23.3	4.395903	0.83011	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.90004	-2.6;-2.6	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95031	0.8169	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160;160	P80192;P80192-4	M3K9_HUMAN;.	C	160	ENSP00000451612:R160C;ENSP00000370649:R160C	ENSP00000005198:R160C	R	-	1	0	MAP3K9	70337479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.503000	0.73699	2.941000	0.99782	0.655000	0.94253	CGT		0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			94	383	0	0	0	1	0	94	383					A	71267726	G	A	71267726	3	1	79	1	0	0	0	0	1	0	0	0	9298	1058	37	1	2926	1	MAP3K9	14	71267726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185	71267726	36081814	14788	25105											
PCNX	22990	broad.mit.edu	37	chr14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaacctggccatattcCtcacatgctttcatttaatg	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1648						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATATTCCTCACATGCTT	0.443																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4942-4944)cCt>cTt		pecanex homolog (Drosophila)							257	218	231					14																	71540352		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540352C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4943C>T	14.37:g.71540352C>T	ENSP00000304192:p.Pro1648Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	p.P1648L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5389	+			1648					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4943C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520918|4.520918	0.85495|0.85495	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12879	.|3.0;3.03;2.64	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.097108	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.79011|0.79011	2.435|2.435	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.72032	.|D	.|0.01	.|.	18.7985|18.7985	0.92007|0.92007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1537;1648	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	F|L	635|1648;1576;1537	.|ENSP00000304192:P1648L;ENSP00000238570:P1576L;ENSP00000396617:P1537L	.|ENSP00000238570:P1576L	L|P	+|+	1|2	0|0	PCNX|PCNX	70610105|70610105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.278000|7.278000	0.78587|0.78587	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.443	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		121	548	0	0	0	1	0	121	548					T	71540352	C	T	71540352	3	4	79	1	0	0	0	0	1	0	0	0	11633	681	24	2	5049	2	PCNX	14	71540352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272626	71540352	35809188	14789	25106											
PCNX	22990	broad.mit.edu	37	chr14	71543085	71543085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcatatctagggagagtttCtgtgtgatttacctcaactg	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71543085C>A	ENST00000304743.2	+	28	5732	c.5286C>A	c.(5284-5286)ttC>ttA	p.F1762L	PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1762						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGAGAGTTTCTGTGTGATTT	0.418																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(5284-5286)ttC>ttA		pecanex homolog (Drosophila)							119	108	112					14																	71543085		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71543085C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5286C>A	14.37:g.71543085C>A	ENSP00000304192:p.Phe1762Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	p.F1762L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	28	5732	+			1762					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5286C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765764|4.765764	0.90020|0.90020	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.23950|.	2.13;2.34;1.88|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.86268|0.86268	2.805|2.805	0.31272|0.31272	N|N	0.691596|0.691596	D;D;D|.	0.58268|.	0.974;0.972;0.982|.	D;P;D|.	0.70487|.	0.969;0.689;0.952|.	T|T	0.74368|0.74368	-0.3688|-0.3688	10|5	0.51188|.	T|.	0.08|.	.|.	13.3761|13.3761	0.60739|0.60739	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	1690;1651;1762|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|Y	1762;1690;1651|749	ENSP00000304192:F1762L;ENSP00000238570:F1690L;ENSP00000396617:F1651L|.	ENSP00000238570:F1690L|.	F|S	+|+	3|2	2|0	PCNX|PCNX	70612838|70612838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.355000|2.355000	0.44107|0.44107	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		10	363	1	0	0.010729	1	0.0107869	10	363					A	71543085	C	A	71543085	3	1	79	1	0	0	0	0	1	0	0	0	11633	912	32	3	5396	3	PCNX	14	71543085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	71543085	35806455	14790	25107											
PCNX	22990	broad.mit.edu	37	chr14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcgtgggctttcttgCgacagagggaggtcagagca	14	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(6637-6639)gCg>gTg		pecanex homolog (Drosophila)							84	82	83					14																	71575657		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71575657C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6638C>T	14.37:g.71575657C>T	ENSP00000304192:p.Ala2213Val					PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000556272.1_3'UTR	p.A2213V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	7084	+			2213					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6638C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	PCNX|PCNX	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA		0.567	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		37	401	0	0	0	1	0	37	401					T	71575657	C	T	71575657	3	4	79	1	0	0	0	0	1	0	0	0	11633	768	27	1	6772	1	PCNX	14	71575657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32572	71575657	35773883	14791	25108											
SIPA1L1	26037	broad.mit.edu	37	chr14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaatgaaagaaaatggatCtccgtacaactaccgaataa	7	7	1	3	rs550985365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000555818.1	+	3	1940	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	531					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1591-1593)tCt>tTt		signal-induced proliferation-associated 1 like 1							95	94	95					14																	72085567		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72085567C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1592C>T	14.37:g.72085567C>T	ENSP00000450832:p.Ser531Phe					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F	p.S531F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	3	1940	+			531					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1592C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619053	0.28801	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.94184	-1.18;-1.17;-1.17;-1.96;-3.37	5.32	5.32	0.75619	.	0.109437	0.64402	D	0.000005	D	0.94231	0.8148	L	0.53249	1.67	0.36692	D	0.87964	B;B;B;P;B	0.39094	0.391;0.0;0.236;0.659;0.138	P;B;B;B;B	0.48368	0.575;0.004;0.206;0.419;0.037	D	0.95998	0.8991	10	0.59425	D	0.04	-6.6639	19.0004	0.92830	0.0:1.0:0.0:0.0	.	6;531;6;531;531	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	531;531;531;6;32	ENSP00000370630:S531F;ENSP00000450832:S531F;ENSP00000351352:S531F;ENSP00000440682:S6F;ENSP00000452450:S32F	ENSP00000351352:S531F	S	+	2	0	SIPA1L1	71155320	1.000000	0.71417	0.726000	0.30738	0.035000	0.12851	4.646000	0.61411	2.497000	0.84241	0.655000	0.94253	TCT		0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		57	286	0	0	0	1	0	57	286					T	72085567	C	T	72085567	3	4	79	1	0	0	0	0	1	0	0	0	14379	913	32	2	1598	2	SIPA1L1	14	72085567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	509910	72085567	35263973	14792	25109											
SIPA1L1	26037	broad.mit.edu	37	chr14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccagtgcctgcggttgGccttcaacacacccaaggtc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000555818.1	+	4	2113	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	589					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGCGGTTGGCCTTCAACAC	0.537																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1765-1767)Gcc>Acc		signal-induced proliferation-associated 1 like 1							160	132	142					14																	72090900		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72090900G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1765G>A	14.37:g.72090900G>A	ENSP00000450832:p.Ala589Thr					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T	p.A589T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	4	2113	+			589					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1765G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453277	0.96223	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.29	5.29	0.74685	.	0.043925	0.85682	D	0.000000	D	0.97204	0.9086	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.958;1.0;1.0;0.455	D;P;D;D;B	0.97110	0.999;0.767;1.0;0.997;0.091	D	0.97588	1.0115	10	0.87932	D	0	-25.7563	19.12	0.93358	0.0:0.0:1.0:0.0	.	64;589;64;589;589	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	589;589;589;64;90	ENSP00000370630:A589T;ENSP00000450832:A589T;ENSP00000351352:A589T;ENSP00000440682:A64T;ENSP00000452450:A90T	ENSP00000351352:A589T	A	+	1	0	SIPA1L1	71160653	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GCC		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		75	368	0	0	0	1	0	75	368					A	72090900	G	A	72090900	3	1	79	1	0	0	0	0	1	0	0	0	14379	1203	42	2	1775	2	SIPA1L1	14	72090900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5333	72090900	35258640	14793	25110											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaattcaagtttcccttcCgaaataataacaagtggcag	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000555818.1	+	10	3535	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTCCCTTCCGAAATAATAA	0.512																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3187-3189)Cga>Tga		signal-induced proliferation-associated 1 like 1							104	101	102					14																	72152161		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152161C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3187C>T	14.37:g.72152161C>T	ENSP00000450832:p.Arg1063*					SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*	p.R1063*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3535	+			1063					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.3187C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	8.980838	0.99025	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3747	12.7979	0.57569	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1063;1063;1063;538	.	ENSP00000351352:R1063X	R	+	1	2	SIPA1L1	71221914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	2.726000	0.93360	0.561000	0.74099	CGA		0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		107	460	0	0	0	1	0	107	460					T	72152161	C	T	72152161	4	4	79	1	0	0	0	0	0	1	0	0	14379	644	23	1	3221	1	SIPA1L1	14	72152161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61261	72152161	35197379	14794	25111											
SIPA1L1	26037	broad.mit.edu	37	chr14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggcagaagtccatgcccGaagggtagttatgcgtttgt	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000555818.1	+	11	3865	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCATGCCCGAAGGGTAGTT	0.483																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3517-3519)Gaa>Aaa		signal-induced proliferation-associated 1 like 1							107	105	105					14																	72165840		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165840G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3517G>A	14.37:g.72165840G>A	ENSP00000450832:p.Glu1173Lys					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K	p.E1173K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3865	+			1173					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3517G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835268	0.32421	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.58	4.7	0.59300	.	0.047490	0.85682	D	0.000000	T	0.40862	0.1134	L	0.42245	1.32	0.58432	D	0.999997	B;P;B;P;B	0.38370	0.276;0.628;0.343;0.525;0.011	B;B;B;B;B	0.23018	0.043;0.039;0.042;0.043;0.002	T	0.45556	-0.9253	10	0.72032	D	0.01	-19.5596	14.4261	0.67218	0.0706:0.0:0.9294:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1173;1173;1173;648	ENSP00000370630:E1173K;ENSP00000450832:E1173K;ENSP00000351352:E1173K;ENSP00000440682:E648K	ENSP00000351352:E1173K	E	+	1	0	SIPA1L1	71235593	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	6.778000	0.75043	1.379000	0.46325	-0.251000	0.11542	GAA		0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		59	265	0	0	0	1	0	59	265					A	72165840	G	A	72165840	3	1	79	1	0	0	0	0	1	0	0	0	14379	1059	37	1	3555	1	SIPA1L1	14	72165840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13679	72165840	35183700	14795	25112											
SIPA1L1	26037	broad.mit.edu	37	chr14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttgttcccagcagtaaaGactcctctcccactctggct	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000555818.1	+	21	5542	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1732					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCAGTAAAGACTCCTCTCC	0.423																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(5194-5196)Gac>Tac		signal-induced proliferation-associated 1 like 1							94	84	87					14																	72204965		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72204965G>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5194G>T	14.37:g.72204965G>T	ENSP00000450832:p.Asp1732Tyr					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000554874.1_3'UTR	p.D1732Y	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	21	5542	+			1732					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5194G>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211485	0.58343	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.03	0.67393	.	0.134229	0.64402	D	0.000003	T	0.41213	0.1149	L	0.36672	1.1	0.51767	D	0.999936	B;P;B;B;D	0.54397	0.374;0.896;0.389;0.374;0.966	B;P;B;B;P	0.57204	0.203;0.701;0.369;0.203;0.815	T	0.33979	-0.9847	10	0.72032	D	0.01	-18.8942	15.3804	0.74651	0.0668:0.0:0.9332:0.0	.	1185;1731;1185;1711;1732	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1711;1732;1710;1185	ENSP00000370630:D1711Y;ENSP00000450832:D1732Y;ENSP00000351352:D1710Y;ENSP00000440682:D1185Y	ENSP00000351352:D1732Y	D	+	1	0	SIPA1L1	71274718	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	7.087000	0.76893	1.521000	0.48983	0.561000	0.74099	GAC		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		37	211	1	0	2.32173e-10	1	2.46079e-10	37	211					T	72204965	G	T	72204965	3	4	79	1	0	0	0	0	1	0	0	0	14379	942	33	3	5272	3	SIPA1L1	14	72204965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39125	72204965	35144575	14796	25113											
DPF3	8110	broad.mit.edu	37	chr14	73159903	73159903	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagccccggtcggttcTtgtagcgcttgccacagact	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	ENST00000556509.1	-	7	622	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.K208T	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	208					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGTCGGTTCTTGTAGCGCTT	0.547																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(622-624)aAg>aCg		D4, zinc and double PHD fingers, family 3							89	92	91					14																	73159903		2002	4188	6190	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73159903T>G	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.623A>C	14.37:g.73159903T>G	ENSP00000450518:p.Lys208Thr					DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.K208T	p.K208T	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	635	-			208					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.623A>C		.	.	.	.	.	.	.	.	.	.	T	22.7	4.326574	0.81690	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.92858	-3.12;-0.53;-0.61	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95893	0.8663	M	0.82323	2.585	0.80722	D	1	P;P;D	0.57899	0.569;0.532;0.981	P;B;D	0.65140	0.455;0.19;0.932	D	0.96480	0.9355	9	0.87932	D	0	.	15.5857	0.76479	0.0:0.0:0.0:1.0	.	218;208;208	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	208;207;208;218	ENSP00000450518:K208T;ENSP00000441640:K208T;ENSP00000444662:K218T	ENSP00000381791:K263T	K	-	2	0	DPF3	72229656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	2.081000	0.62600	0.459000	0.35465	AAG		0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			49	280	0	0	0	1	0	49	280					G	73159903	T	G	73159903	3	3	79	1	0	0	0	0	1	0	0	0	4734	1609	56	4	462	4	DPF3	14	73159903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954938	73159903	34189637	14797	25114											
DCAF4	26094	broad.mit.edu	37	chr14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcatcaacctgcaaagtCtgaagacccctacgctcaag	7	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000358377.2	+	7	839	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(319-321)Ctg>Atg		DDB1 and CUL4 associated factor 4							191	175	181					14																	73412676		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73412676C>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.619C>A	14.37:g.73412676C>A	ENSP00000351147:p.Leu207Met					DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000358377.2_Missense_Mutation_p.L207M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M	p.L107M			Q8WV16	DCAF4_HUMAN			6	609	+			207					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.319C>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011983	0.35511	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.73575	0.28;-0.44;-0.76;0.31;-0.13;4.76	6.04	4.98	0.66077	.	0.233339	0.44483	D	0.000451	D	0.83308	0.5226	M	0.63843	1.955	0.24821	N	0.992582	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.78314	0.909;0.984;0.991;0.991;0.956;0.976	T	0.74884	-0.3512	10	0.41790	T	0.15	.	15.0067	0.71519	0.0:0.8821:0.0:0.1179	.	146;185;207;207;146;207	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	M	207;146;107;146;207;107	ENSP00000351147:L207M;ENSP00000345176:L146M;ENSP00000377781:L107M;ENSP00000426178:L146M;ENSP00000452131:L207M;ENSP00000451186:L107M	ENSP00000345176:L146M	L	+	1	2	DCAF4	72482429	0.340000	0.24792	0.621000	0.29145	0.112000	0.19704	0.772000	0.26647	2.873000	0.98535	0.561000	0.74099	CTG		0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		194	844	1	0	5.41999e-79	1	6.92577e-79	194	844					A	73412676	C	A	73412676	3	1	79	1	0	0	0	0	1	0	0	0	4281	912	32	3	641	3	DCAF4	14	73412676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252773	73412676	33936864	14798	25115											
RBM25	58517	broad.mit.edu	37	chr14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtaataaggatcgcagtcGatcaaggtaaggctttacag	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	383	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATCGCAGTCGATCAAGGTAA	0.463																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1147-1149)cGa>cAa		RNA binding motif protein 25							65	57	60					14																	73570180		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73570180G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1148G>A	14.37:g.73570180G>A	ENSP00000261973:p.Arg383Gln					RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1433	+			383			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1148G>A	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123003	0.56613	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.75	5.75	0.90469	.	0.055040	0.64402	D	0.000002	T	0.60818	0.2298	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.58335	-0.7654	10	0.32370	T	0.25	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	383	P49756	RBM25_HUMAN	Q	383	ENSP00000261973:R383Q;ENSP00000431150:R383Q	ENSP00000261973:R383Q	R	+	2	0	RBM25	72639933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGA		0.463	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		28	132	0	0	0	1	0	28	132					A	73570180	G	A	73570180	3	1	79	1	0	0	0	0	1	0	0	0	13175	1058	37	1	1182	1	RBM25	14	73570180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157504	73570180	33779360	14799	25116											
PSEN1	5663	broad.mit.edu	37	chr14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagagtatccaaaaattCcaagtataatgcagaaagta	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000324501.5	+	9	1210	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	313					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368																																						ENST00000324501.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18						c.(937-939)tCc>tTc		presenilin 1							91	86	87					14																	73673163		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73673163C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.938C>T	14.37:g.73673163C>T	ENSP00000326366:p.Ser313Phe					PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F	p.S313F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	9	1210	+			313					B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.938C>T	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298744	0.23650	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.1;-6.1;-6.34;-6.1;-6.34	5.53	5.53	0.82687	.	0.350494	0.34088	N	0.004280	D	0.99190	0.9719	L	0.60455	1.87	0.27257	N	0.958745	B;P	0.35192	0.122;0.489	B;P	0.50136	0.285;0.632	D	0.97887	1.0295	10	0.24483	T	0.36	-3.8894	13.9605	0.64175	0.1519:0.848:0.0:0.0	.	309;313	P49768-2;P49768	.;PSN1_HUMAN	F	313;309;313;313;309;313;221	ENSP00000326366:S313F;ENSP00000350342:S309F;ENSP00000261970:S313F;ENSP00000339523:S313F;ENSP00000377719:S309F;ENSP00000451429:S313F;ENSP00000385948:S221F	ENSP00000261970:S313F	S	+	2	0	PSEN1	72742916	0.998000	0.40836	0.920000	0.36463	0.149000	0.21700	3.541000	0.53618	2.587000	0.87381	0.650000	0.86243	TCC		0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			56	213	0	0	0	1	0	56	213					T	73673163	C	T	73673163	3	4	79	1	0	0	0	0	1	0	0	0	12697	855	30	2	964	2	PSEN1	14	73673163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102983	73673163	33676377	14800	25117											
PAPLN	89932	broad.mit.edu	37	chr14	73720627	73720627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccattcaggcctgtaaCctgcagcgctgtgcagcctg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000554301.1	+	11	1423	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_ENST00000427855.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000555445.1_Silent_p.N420N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	420	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTGTAACCTGCAGCGCT	0.697																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1258-1260)aaC>aaT		papilin, proteoglycan-like sulfated glycoprotein							23	24	24					14																	73720627		2198	4295	6493	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73720627C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1260C>T	14.37:g.73720627C>T						PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000554301.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N	p.N420N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	12	1362	+			420			TSP type-1 3.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1260C>T																																																																																					0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		19	200	0	0	0	1	0	19	200					T	73720627	C	T	73720627	2	4	79	1	0	0	0	0	0	0	0	1	11470	506	18	2		2	PAPLN	14	73720627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47464	73720627	33628913	14801	25118											
PAPLN	89932	broad.mit.edu	37	chr14	73721304	73721304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgctccataccgcagcGtgctccttggaagaccggcc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000554301.1	+	12	1549	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_ENST00000427855.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000555445.1_Silent_p.A462A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	462	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATACCGCAGCGTGCTCCTTGG	0.612																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1384-1386)gcG>gcA		papilin, proteoglycan-like sulfated glycoprotein							177	166	170					14																	73721304		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73721304G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1386G>A	14.37:g.73721304G>A						PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000554301.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A	p.A462A			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	13	1488	+			462			TSP type-1 4.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1386G>A																																																																																					0.612	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		127	609	0	0	0	1	0	127	609					A	73721304	G	A	73721304	2	1	79	1	0	0	0	0	0	0	0	1	11470	1132	40	1		1	PAPLN	14	73721304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677	73721304	33628236	14802	25119											
PAPLN	89932	broad.mit.edu	37	chr14	73729383	73729383	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctggccttctggtggtctCtggcggcaagaccaacagcc	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73729383C>A	ENST00000554301.1	+	18	2734	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	PAPLN_ENST00000427855.1_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000555445.1_Silent_p.L841L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	857						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGGTGGTCTCTGGCGGCAAG	0.687																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2569-2571)ctC>ctA		papilin, proteoglycan-like sulfated glycoprotein							10	12	12					14																	73729383		2188	4284	6472	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73729383C>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2571C>A	14.37:g.73729383C>A						PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000554301.1_Silent_p.L857L|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.L830L	p.L857L			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	19	2673	+			857					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2571C>A																																																																																					0.687	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		9	60	1	0	1.12685e-05	1	1.15515e-05	9	60					A	73729383	C	A	73729383	2	1	79	1	0	0	0	0	0	0	0	1	11470	900	32	3		3	PAPLN	14	73729383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8079	73729383	33620157	14803	25120											
PAPLN	89932	broad.mit.edu	37	chr14	73730979	73730979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcagaggacgcgggCacctacagctgtggcagcac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000554301.1	+	20	3085	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_ENST00000427855.1_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000555445.1_Silent_p.G958G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	974	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGACGCGGGCACCTACAGCT	0.637																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2920-2922)ggC>ggT		papilin, proteoglycan-like sulfated glycoprotein							70	71	71					14																	73730979		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73730979C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2922C>T	14.37:g.73730979C>T						PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000554301.1_Silent_p.G974G|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.G947G	p.G974G			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	21	3024	+			974			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2922C>T																																																																																					0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		63	403	0	0	0	1	0	63	403					T	73730979	C	T	73730979	2	4	79	1	0	0	0	0	0	0	0	1	11470	697	25	2		2	PAPLN	14	73730979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1596	73730979	33618561	14804	25121											
PAPLN	89932	broad.mit.edu	37	chr14	73733247	73733247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctccctggtcattagccGagtggctgtagaagatggcg	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73733247G>A	ENST00000554301.1	+	23	3465	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	PAPLN_ENST00000427855.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1101	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCATTAGCCGAGTGGCTGTA	0.602																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(3301-3303)cGa>cAa		papilin, proteoglycan-like sulfated glycoprotein							55	47	50					14																	73733247		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73733247G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3302G>A	14.37:g.73733247G>A	ENSP00000451803:p.Arg1101Gln					PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000554301.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q	p.R1101Q			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	24	3404	+			1101			Ig-like C2-type 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.3302G>A		.	.	.	.	.	.	.	.	.	.	G	9.985	1.229254	0.22542	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.8	-9.05	0.00730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17662	0.0424	N	0.21617	0.685	0.39908	D	0.973995	B;B;B;B	0.28082	0.018;0.2;0.145;0.17	B;B;B;B	0.22386	0.023;0.039;0.024;0.01	T	0.05582	-1.0876	9	0.39692	T	0.17	.	17.017	0.86422	0.1111:0.0945:0.7944:0.0	.	1085;1101;300;1074	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	Q	1074;1101;1101;1085	ENSP00000345395:R1074Q;ENSP00000403403:R1101Q;ENSP00000451803:R1101Q;ENSP00000451729:R1085Q	ENSP00000345395:R1074Q	R	+	2	0	PAPLN	72803000	0.000000	0.05858	0.004000	0.12327	0.435000	0.31806	-0.129000	0.10515	-1.380000	0.02115	-1.069000	0.02264	CGA		0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		6	190	0	0	0	1	0	6	190					A	73733247	G	A	73733247	3	1	79	1	0	0	0	0	1	0	0	0	11470	1058	37	1	3307	1	PAPLN	14	73733247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	73733247	33616293	14805	25122											
HEATR4	399671	broad.mit.edu	37	chr14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcttgggagaagcttgGcggtcataagcttgagctca	15	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	728										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAAGCTTGGCGGTCATAAG	0.552																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2182-2184)gCc>gTc		HEAT repeat containing 4							126	103	111					14																	73967357		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73967357G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2183C>T	14.37:g.73967357G>A	ENSP00000450444:p.Ala728Val					HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	p.A728V	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	12	2504	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2183C>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567887	0.45798	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.18657	2.2	5.35	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.382752	0.22466	N	0.059683	T	0.12603	0.0306	N	0.08118	0	0.30039	N	0.812774	B	0.21688	0.059	B	0.26094	0.066	T	0.09574	-1.0668	10	0.36615	T	0.2	-1.7862	13.3102	0.60376	0.078:0.0:0.922:0.0	.	728	Q86WZ0	HEAT4_HUMAN	V	728;681	ENSP00000450444:A728V	ENSP00000335447:A681V	A	-	2	0	HEATR4	73037110	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	2.773000	0.47686	1.384000	0.46424	0.555000	0.69702	GCC		0.552	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		73	301	0	0	0	1	0	73	301					A	73967357	G	A	73967357	3	1	79	1	0	0	0	0	1	0	0	0	7060	1203	42	2	925	2	HEATR4	14	73967357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234110	73967357	33382183	14806	25123											
HEATR4	399671	broad.mit.edu	37	chr14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagcagcagttctggcttCttcttttcctgtgggggcag	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	283										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTCTGGCTTCTTCTTTTCCT	0.532																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(847-849)aaG>aaT		HEAT repeat containing 4							120	118	119					14																	73989008		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73989008C>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.849G>T	14.37:g.73989008C>A	ENSP00000450444:p.Lys283Asn					HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	p.K283N	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	1170	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.849G>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557739	0.13436	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.44083	0.93	5.69	3.88	0.44766	.	0.173502	0.41097	D	0.000948	T	0.44871	0.1314	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58660	0.843	T	0.26360	-1.0105	10	0.62326	D	0.03	-6.6596	8.6657	0.34118	0.0:0.8262:0.0:0.1738	.	283	Q86WZ0	HEAT4_HUMAN	N	283;236	ENSP00000450444:K283N	ENSP00000335447:K236N	K	-	3	2	HEATR4	73058761	0.010000	0.17322	0.061000	0.19648	0.160000	0.22226	-0.349000	0.07731	0.777000	0.33496	0.561000	0.74099	AAG		0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		128	625	1	0	9.30381e-49	1	1.14909e-48	128	625					A	73989008	C	A	73989008	3	1	79	1	0	0	0	0	1	0	0	0	7060	912	32	3	2295	3	HEATR4	14	73989008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21651	73989008	33360532	14807	25124											
C14orf43	91748	broad.mit.edu	37	chr14	74205659	74205659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaggcaggataccctcCttagagaggcggcgggagcg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74205659C>A	ENST00000286523.5	-	2	1835	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K351N	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	351	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGATACCCTCCTTAGAGAGGC	0.682																																						ENST00000286523.5																			0											c.(1051-1053)aaG>aaT		ELM2 and Myb/SANT-like domain containing 1							19	22	21					14																	74205659		2174	4262	6436	SO:0001583	missense	91748							g.chr14:74205659C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1053G>T	14.37:g.74205659C>A	ENSP00000286523:p.Lys351Asn					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K351N	p.K351N	NM_194278.3	NP_919254.2					2	1835	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1053G>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314060	0.60414	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.69	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.29028	0.0721	L	0.29908	0.895	0.46609	D	0.999121	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.987	T	0.02424	-1.1161	10	0.56958	D	0.05	-25.9239	7.0046	0.24830	0.0:0.7386:0.0:0.2614	.	351;351	A0PJD3;Q6PJG2	.;CN043_HUMAN	N	351	ENSP00000377634:K351N;ENSP00000286523:K351N;ENSP00000407767:K351N;ENSP00000402380:K351N	ENSP00000286523:K351N	K	-	3	2	C14orf43	73275412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.793000	0.26944	2.163000	0.67991	0.491000	0.48974	AAG		0.682	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		49	183	1	0	1.79293e-35	1	2.14121e-35	49	183					A	74205659	C	A	74205659	3	1	79	1	0	0	0	0	1	0	0	0	1779	680	24	3	2128	3	C14orf43	14	74205659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216651	74205659	33143881	14808	25125											
ENTPD5	957	broad.mit.edu	37	chr14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccccaaggcccagcccGtctctatgttgttcactttc	8	16	2	0	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000334696.6	-	16	1548	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	410					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1228-1230)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 5		G	MET/THR	0,4406		0,0,2203	137	116	123		1229	5.1	0.9	14	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ENTPD5	NM_001249.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	410/429	74433689	3,13003	2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74433689G>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1229C>T	14.37:g.74433689G>A	ENSP00000335246:p.Thr410Met					ENTPD5_ENST00000557325.1_Intron	p.T410M	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	16	1548	-			410					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.1229C>T	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090243	0.76756	0.0	3.49E-4	ENSG00000187097	ENST00000334696	T	0.10668	2.85	5.07	5.07	0.68467	.	0.108369	0.64402	N	0.000007	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.53490	0.727	T	0.00370	-1.1783	10	0.48119	T	0.1	-22.0174	16.8209	0.85745	0.0:0.0:1.0:0.0	.	410	O75356	ENTP5_HUMAN	M	410	ENSP00000335246:T410M	ENSP00000335246:T410M	T	-	2	0	ENTPD5	73503442	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	6.992000	0.76238	2.638000	0.89438	0.462000	0.41574	ACG		0.498	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		72	309	0	0	0	1	0	72	309					A	74433689	G	A	74433689	3	1	79	1	0	0	0	0	1	0	0	0	5160	1145	40	1	61	1	ENTPD5	14	74433689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228030	74433689	32915851	14809	25126											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagcaagacctgctggcGgcttaatactgaagtgtctg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|ALDH6A1_ENST00000555126.1_5'Flank|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	101				R -> C (in Ref. 4; BAG57539). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		ACCTGCTGGCGGCTTAATACT	0.468																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(301-303)Cgc>Tgc		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						73	72	73					14																	74538953		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74538953G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.301C>T	14.37:g.74538953G>A	ENSP00000450436:p.Arg101Cys					ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|CCDC176_ENST00000553773.1_Intron	p.R101C	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	399	-			101					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.301C>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623528	0.87460	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.97066	-4.23;-4.23	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052739	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.87932	D	0	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	101	Q02252	MMSA_HUMAN	C	101	ENSP00000450436:R101C;ENSP00000342564:R101C	ENSP00000342564:R101C	R	-	1	0	ALDH6A1	73608706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.744000	0.94065	0.655000	0.94253	CGC		0.468	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			55	260	0	0	0	1	0	55	260					A	74538953	G	A	74538953	3	1	79	1	0	0	0	0	1	0	0	0	503	1116	39	1	1342	1	ALDH6A1	14	74538953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105264	74538953	32810587	14810	25127											
C14orf115	55237	broad.mit.edu	37	chr14	74824322	74824322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcaaccgtgaacctgGcctcagctactctcacctct	7	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74824322G>A	ENST00000256362.4	+	2	1077	c.836G>A	c.(835-837)gGc>gAc	p.G279D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	279					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGAACCTGGCCTCAGCTAC	0.657																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(835-837)gGc>gAc		vertebrae development associated							43	42	42					14																	74824322		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824322G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.836G>A	14.37:g.74824322G>A	ENSP00000256362:p.Gly279Asp						p.G279D	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1077	+			279					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.836G>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607874	0.28623	.	.	ENSG00000133980	ENST00000256362	T	0.45668	0.89	5.2	3.24	0.37175	.	0.281816	0.30630	N	0.009214	T	0.43456	0.1248	L	0.58583	1.82	0.31997	N	0.603875	D	0.53619	0.961	P	0.55749	0.783	T	0.48007	-0.9072	10	0.11182	T	0.66	-4.3903	4.7827	0.13210	0.3285:0.0:0.6715:0.0	.	279	Q9H8Y1	VRTN_HUMAN	D	279	ENSP00000256362:G279D	ENSP00000256362:G279D	G	+	2	0	VRTN	73894075	1.000000	0.71417	0.967000	0.41034	0.184000	0.23303	3.071000	0.50041	1.432000	0.47375	0.561000	0.74099	GGC		0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		44	342	0	0	0	1	0	44	342					A	74824322	G	A	74824322	3	1	79	1	0	0	0	0	1	0	0	0	1745	1203	42	2	838	2	C14orf115	14	74824322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285369	74824322	32525218	14811	25128											
ISCA2	122961	broad.mit.edu	37	chr14	74961670	74961670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagcacagcaaggctgCtcctgtgggtcatctttctc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000556816.1	+	4	487	c.432C>T	c.(430-432)tgC>tgT	p.C144C	NPC2_ENST00000557510.1_5'Flank|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000298818.8_3'UTR|ISCA2_ENST00000554924.1_3'UTR|NPC2_ENST00000434013.2_5'Flank|NPC2_ENST00000555619.1_5'Flank			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	144					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463																																						ENST00000556816.1																			0				lung(1)	1						c.(430-432)tgC>tgT		iron-sulfur cluster assembly 2							119	118	118					14																	74961670		2203	4300	6503	SO:0001819	synonymous_variant	122961				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr14:74961670C>T		CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898			19857	protein-coding gene	gene with protein product		615317	"HesB like domain containing 1", "iron-sulfur cluster assembly 2 homolog (S. cerevisiae)"	HBLD1		22323289	Standard	NM_194279		Approved	ISA2	uc001xpz.3	Q86U28		ENST00000556816.1:c.432C>T	14.37:g.74961670C>T						ISCA2_ENST00000554924.1_3'UTR|ISCA2_ENST00000298818.8_3'UTR	p.C144C			Q86U28	ISCA2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00146)	4	487	+			144					A6NFF1|A8K3W3|G3V291|Q8IYZ0|Q96BB2	Silent	SNP	ENST00000556816.1	37	c.432C>T	CCDS32122.1																																																																																				0.463	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	NM_194279		68	402	0	0	0	1	0	68	402					T	74961670	C	T	74961670	2	4	79	1	0	0	0	0	0	0	0	1	7881	805	28	2		2	ISCA2	14	74961670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137348	74961670	32387870	14812	25129											
LTBP2	4053	broad.mit.edu	37	chr14	74971732	74971732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcatctccccagctagcGccctgggtgcagcagcattc	11	16	1	0	rs535962199		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000261978.4	-	29	4709	c.4323C>T	c.(4321-4323)ggC>ggT	p.G1441G	LTBP2_ENST00000556690.1_Silent_p.G1397G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1441	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCAGCTAGCGCCCTGGGTGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4321-4323)ggC>ggT		latent transforming growth factor beta binding protein 2							64	64	64					14																	74971732		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971732G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4323C>T	14.37:g.74971732G>A						LTBP2_ENST00000556690.1_Silent_p.G1397G	p.G1441G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	29	4709	-			1441			TB 3.		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.4323C>T	CCDS9831.1																																																																																				0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		14	436	0	0	0	1	0	14	436					A	74971732	G	A	74971732	2	1	79	1	0	0	0	0	0	0	0	1	9112	1074	38	1		1	LTBP2	14	74971732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10062	74971732	32377808	14813	25130											
LTBP2	4053	broad.mit.edu	37	chr14	74975656	74975656	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcttcacattcatccacatCtgcagggccacacaggggag	10	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000261978.4	-	23	3790		c.e23-1		LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e23-1		latent transforming growth factor beta binding protein 2							57	61	60					14																	74975656		2203	4300	6503	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975656C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3404-1G>A	14.37:g.74975656C>T						LTBP2_ENST00000556690.1_Splice_Site		NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	23	3790	-								Q99907|Q9NS51	Splice_Site	SNP	ENST00000261978.4	37		CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912648	0.72983	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556206	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9123	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP2	74045409	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.276000	0.78559	2.771000	0.95319	0.561000	0.74099	.		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Intron	96	334	0	0	0	1	0	96	334					T	74975656	C	T	74975656	5	4	79	1	0	0	0	0	0	0	1	0	9112	927	32	2	2118	2	LTBP2	14	74975656	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3924	74975656	32373884	14814	25131											
KIAA0317	9870	broad.mit.edu	37	chr14	75130641	75130641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgctatgggtcggagcgGcaataatctgaaatgaggga	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75130641G>A	ENST00000356357.4	-	19	2845	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	777	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)										GGTCGGAGCGGCAATAATCTG	0.542																																						ENST00000356357.4																			0											c.(2329-2331)gCc>gTc		apoptosis resistant E3 ubiquitin protein ligase 1							130	139	136					14																	75130641		2156	4273	6429	SO:0001583	missense	9870							g.chr14:75130641G>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.2330C>T	14.37:g.75130641G>A	ENSP00000348714:p.Ala777Val					AREL1_ENST00000557401.1_5'UTR	p.A777V	NM_001039479.1	NP_001034568.1					19	2845	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.2330C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700186	0.88924	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.57436	0.4;0.4	5.73	5.73	0.89815	HECT (4);	0.045635	0.85682	D	0.000000	T	0.53351	0.1791	L	0.41124	1.26	0.80722	D	1	P	0.37688	0.605	P	0.44921	0.464	T	0.54057	-0.8350	10	0.54805	T	0.06	.	15.3969	0.74801	0.0:0.1386:0.8614:0.0	.	777	O15033	K0317_HUMAN	V	777;616;616	ENSP00000348714:A777V;ENSP00000452101:A616V	ENSP00000348714:A777V	A	-	2	0	KIAA0317	74200394	1.000000	0.71417	0.917000	0.36280	0.956000	0.61745	5.548000	0.67255	2.711000	0.92665	0.650000	0.86243	GCC		0.542	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		38	589	0	0	0	1	0	38	589					A	75130641	G	A	75130641	3	1	79	1	0	0	0	0	1	0	0	0	8197	1203	42	2	149	2	KIAA0317	14	75130641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154985	75130641	32218899	14815	25132											
KIAA0317	9870	broad.mit.edu	37	chr14	75140748	75140748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagcttacttttgttcctgGacacactcggaaggtgtaaa	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75140748G>T	ENST00000356357.4	-	9	1662	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	383					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)										TTTGTTCCTGGACACACTCGG	0.443																																						ENST00000356357.4																			0											c.(1147-1149)Cca>Aca		apoptosis resistant E3 ubiquitin protein ligase 1							72	74	73					14																	75140748		1899	4119	6018	SO:0001583	missense	9870							g.chr14:75140748G>T	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.1147C>A	14.37:g.75140748G>T	ENSP00000348714:p.Pro383Thr					AREL1_ENST00000557401.1_5'UTR	p.P383T	NM_001039479.1	NP_001034568.1					9	1662	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1147C>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349756	0.82132	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.53423	0.62;0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.69312	-0.5178	10	0.66056	D	0.02	.	17.1942	0.86888	0.0:0.0:1.0:0.0	.	383;383	O15033-2;O15033	.;K0317_HUMAN	T	383;222;222	ENSP00000348714:P383T;ENSP00000452101:P222T	ENSP00000348714:P383T	P	-	1	0	KIAA0317	74210501	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.284000	0.95882	2.720000	0.93068	0.650000	0.86243	CCA		0.443	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		21	108	1	0	1.90627e-21	1	2.14695e-21	21	108					T	75140748	G	T	75140748	3	4	79	1	0	0	0	0	1	0	0	0	8197	1174	41	3	1372	3	KIAA0317	14	75140748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10107	75140748	32208792	14816	25133											
KIAA0317	9870	broad.mit.edu	37	chr14	75142502	75142502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttcctcgtcaacagcagtgGatggccggcgctgggaagag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142502G>T	ENST00000356357.4	-	8	1495	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	327					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)										AACAGCAGTGGATGGCCGGCG	0.517																																						ENST00000356357.4																			0											c.(979-981)tCc>tAc		apoptosis resistant E3 ubiquitin protein ligase 1							167	180	175					14																	75142502		2107	4229	6336	SO:0001583	missense	9870							g.chr14:75142502G>T	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.980C>A	14.37:g.75142502G>T	ENSP00000348714:p.Ser327Tyr					AREL1_ENST00000557401.1_5'UTR	p.S327Y	NM_001039479.1	NP_001034568.1					8	1495	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.980C>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.998106|3.998106	0.74818|0.74818	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.51071	.|0.72;0.72	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.104877	.|0.64402	.|D	.|0.000002	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.989	.|D;P	.|0.74348	.|0.983;0.795	T|T	0.64428|0.64428	-0.6410|-0.6410	5|10	.|0.72032	.|D	.|0.01	.|.	18.0383|18.0383	0.89312|0.89312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;327	.|O15033-2;O15033	.|.;K0317_HUMAN	T|Y	75|327;166;166	.|ENSP00000348714:S327Y;ENSP00000452101:S166Y	.|ENSP00000348714:S327Y	P|S	-|-	1|2	0|0	KIAA0317|KIAA0317	74212255|74212255	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.453000|0.453000	0.32348|0.32348	9.201000|9.201000	0.95017|0.95017	2.700000|2.700000	0.92200|0.92200	0.467000|0.467000	0.42956|0.42956	CCA|TCC		0.517	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		236	1017	1	0	6.51915e-81	1	8.33962e-81	236	1017					T	75142502	G	T	75142502	3	4	79	1	0	0	0	0	1	0	0	0	8197	1174	41	3	1543	3	KIAA0317	14	75142502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1754	75142502	32207038	14817	25134											
KIAA0317	9870	broad.mit.edu	37	chr14	75142633	75142633	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggacacattgcgttcgacGatattcttctcatcctctga	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142633G>A	ENST00000356357.4	-	8	1364	c.849C>T	c.(847-849)atC>atT	p.I283I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	283					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)										TGCGTTCGACGATATTCTTCT	0.413																																						ENST00000356357.4																			0											c.(847-849)atC>atT		apoptosis resistant E3 ubiquitin protein ligase 1							121	119	120					14																	75142633		1948	4139	6087	SO:0001819	synonymous_variant	9870							g.chr14:75142633G>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.849C>T	14.37:g.75142633G>A						AREL1_ENST00000557401.1_5'UTR	p.I283I	NM_001039479.1	NP_001034568.1					8	1364	-								B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	ENST00000356357.4	37	c.849C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059960	0.19987	.	.	ENSG00000119682	ENST00000490805	.	.	.	5.87	-5.23	0.02798	.	.	.	.	.	T	0.65302	0.2678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66432	-0.5925	4	.	.	.	.	16.4977	0.84249	0.4531:0.0:0.5469:0.0	.	.	.	.	L	31	.	.	S	-	2	0	KIAA0317	74212386	0.999000	0.42202	0.626000	0.29213	0.977000	0.68977	0.941000	0.29005	-1.048000	0.03238	-0.469000	0.05056	TCG		0.413	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		127	584	0	0	0	1	0	127	584					A	75142633	G	A	75142633	2	1	79	1	0	0	0	0	0	0	0	1	8197	1048	37	1		1	KIAA0317	14	75142633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	75142633	32206907	14818	25135											
KIAA0317	9870	broad.mit.edu	37	chr14	75151269	75151269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtagtcataaatagtcCggtcccctcggcgctcgcgg	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75151269C>T	ENST00000356357.4	-	4	646	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	44					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)										ATAAATAGTCCGGTCCCCTCG	0.547																																						ENST00000356357.4																			0											c.(130-132)cGg>cAg		apoptosis resistant E3 ubiquitin protein ligase 1							57	57	57					14																	75151269		1917	4123	6040	SO:0001583	missense	9870							g.chr14:75151269C>T	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.131G>A	14.37:g.75151269C>T	ENSP00000348714:p.Arg44Gln					AREL1_ENST00000557401.1_5'UTR	p.R44Q	NM_001039479.1	NP_001034568.1					4	646	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.131G>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565892	0.96540	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.53857	0.6;0.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.976	D;B	0.72982	0.979;0.347	T	0.59241	-0.7491	10	0.32370	T	0.25	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	44;44	O15033-2;O15033	.;K0317_HUMAN	Q	44	ENSP00000348714:R44Q;ENSP00000450458:R44Q	ENSP00000348714:R44Q	R	-	2	0	KIAA0317	74221022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	CGG		0.547	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	290	0	0	0	1	0	10	290					T	75151269	C	T	75151269	3	4	79	1	0	0	0	0	1	0	0	0	8197	652	23	1	2408	1	KIAA0317	14	75151269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8636	75151269	32198271	14819	25136											
YLPM1	56252	broad.mit.edu	37	chr14	75279362	75279362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttatcctgaggagcgaatGcctctgccagctccttcact	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75279362G>A	ENST00000552421.1	+	10	3385	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	YLPM1_ENST00000325680.7_Missense_Mutation_p.M1793I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I			P49750	YLPM1_HUMAN	YLP motif containing 1	1598	Arg-rich.				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)			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)		AGGAGCGAATGCCTCTGCCAG	0.463																																						ENST00000325680.7																			0				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						c.(5377-5379)atG>atA		YLP motif containing 1							43	46	45					14																	75279362		1995	4181	6176	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75279362G>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.3261G>A	14.37:g.75279362G>A	ENSP00000447921:p.Met1087Ile					YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I|YLPM1_ENST00000552421.1_Missense_Mutation_p.M1087I	p.M1793I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	11	5503	+			1598					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5379G>A		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924446	0.34002	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.27053	0.805	0.33071	D	0.535411	B;B	0.17667	0.013;0.023	B;B	0.08055	0.003;0.003	T	0.48658	-0.9016	9	0.39692	T	0.17	0.0452	13.518	0.61551	0.0:0.0:0.7179:0.2821	.	1598;1793	P49750-3;P49750-4	.;.	I	1087;1793;1598;1506;202	.	ENSP00000238571:M1598I	M	+	3	0	YLPM1	74349115	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.581000	0.46077	1.384000	0.46424	0.650000	0.86243	ATG		0.463	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		6	106	0	0	0	1	0	6	106					A	75279362	G	A	75279362	3	1	79	1	0	0	0	0	1	0	0	0	17540	1319	46	2	5421	2	YLPM1	14	75279362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128093	75279362	32070178	14820	25137											
YLPM1	56252	broad.mit.edu	37	chr14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcgtctagatattcGttctttgctgcaagatgctg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000552421.1	+	15	4005	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H			P49750	YLPM1_HUMAN	YLP motif containing 1	1805					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)			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)		CTAGATATTCGTTCTTTGCTG	0.378																																						ENST00000325680.7																			0				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						c.(5998-6000)cGt>cAt		YLP motif containing 1							128	119	122					14																	75284986		1924	4155	6079	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75284986G>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.3881G>A	14.37:g.75284986G>A	ENSP00000447921:p.Arg1294His					YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H|YLPM1_ENST00000552421.1_Missense_Mutation_p.R1294H	p.R2000H	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	16	6123	+			1805					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5999G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.136174	0.94517	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.34275	1.37;1.37;1.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.53498	0.1800	L	0.39898	1.24	0.80722	D	1	P;D	0.76494	0.786;0.999	P;D	0.75020	0.517;0.985	T	0.53753	-0.8394	10	0.62326	D	0.03	-6.6839	19.2226	0.93803	0.0:0.0:1.0:0.0	.	1805;2000	P49750-3;P49750-4	.;.	H	1294;2000;1765;1713;409	ENSP00000447921:R1294H;ENSP00000324463:R2000H;ENSP00000448367:R409H	ENSP00000238571:R1765H	R	+	2	0	YLPM1	74354739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	CGT		0.378	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	43	0	0	0	1	0	10	43					A	75284986	G	A	75284986	3	1	79	1	0	0	0	0	1	0	0	0	17540	1145	40	1	6061	1	YLPM1	14	75284986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	75284986	32064554	14821	25138											
MLH3	27030	broad.mit.edu	37	chr14	75515131	75515131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagtttttcttttcacagCttttgactgcaaattaaaca	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75515131C>A	ENST00000556740.1	-	1	1263	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	MLH3_ENST00000355774.2_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	410					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTTTCACAGCTTTTGACTGC	0.348								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1228-1230)Gct>Tct	Mismatch excision repair (MMR)	mutL homolog 3							52	51	51					14																	75515131		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515131C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1228G>T	14.37:g.75515131C>A	ENSP00000452316:p.Ala410Ser					MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000556740.1_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR	p.A410S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1443	-			410					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1228G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983191	0.02180	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80738	-1.35;-1.36;-1.41;-1.35	5.74	3.6	0.41247	.	0.363846	0.28803	N	0.014088	T	0.70133	0.3189	L	0.55103	1.725	0.80722	D	1	P;B	0.36990	0.577;0.0	B;B	0.30855	0.121;0.001	T	0.63959	-0.6519	10	0.11485	T	0.65	-9.4372	11.1063	0.48205	0.3113:0.6206:0.0:0.0681	.	410;410	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	410	ENSP00000348020:A410S;ENSP00000238662:A410S;ENSP00000451540:A410S;ENSP00000452316:A410S	ENSP00000238662:A410S	A	-	1	0	MLH3	74584884	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	0.137000	0.15995	0.787000	0.33731	-0.824000	0.03097	GCT		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		9	280	1	0	0.010729	1	0.0107869	9	280					A	75515131	C	A	75515131	3	1	79	1	0	0	0	0	1	0	0	0	9659	797	28	3	3181	3	MLH3	14	75515131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230145	75515131	31834409	14822	25139											
NEK9	91754	broad.mit.edu	37	chr14	75567812	75567812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtagttcccaacgcccaGctgcccacacttgttgcagc	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	629					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1885-1887)Ctg>Ttg		NIMA-related kinase 9							45	46	45					14																	75567812		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75567812G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1885C>T	14.37:g.75567812G>A							p.L629L	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	16	2043	-			629					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.1885C>T	CCDS9839.1																																																																																				0.542	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		53	189	0	0	0	1	0	53	189					A	75567812	G	A	75567812	2	1	79	1	0	0	0	0	0	0	0	1	10373	962	34	2		2	NEK9	14	75567812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52681	75567812	31781728	14823	25140											
TMED10	10972	broad.mit.edu	37	chr14	75618848	75618848	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcagaatctgtgatcTaaaataagaaaagtagtaag	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e2-2		transmembrane emp24-like trafficking protein 10 (yeast)							63	59	60					14																	75618848		2203	4300	6503	SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75618848T>C	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.226-2A>G	14.37:g.75618848T>C								NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	2	277	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	37		CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937216	0.73557	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5719	0.76345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74688601	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.655000	0.83696	2.142000	0.66516	0.459000	0.35465	.		0.373	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	31	213	0	0	0	1	0	31	213					C	75618848	T	C	75618848	5	2	79	1	0	0	0	0	0	0	1	0	16055	1536	53	4	451	4	TMED10	14	75618848	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51036	75618848	31730692	14824	25141											
TMED10	10972	broad.mit.edu	37	chr14	75643079	75643079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtggctgcgcaggccGccagcgcccccagactggtc	15	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	68	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(202-204)ggC>ggT		transmembrane emp24-like trafficking protein 10 (yeast)							50	53	52					14																	75643079		2203	4300	6503	SO:0001819	synonymous_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75643079G>A	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.204C>T	14.37:g.75643079G>A							p.G68G	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	1	255	-			68			GOLD.		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Silent	SNP	ENST00000303575.4	37	c.204C>T	CCDS9840.1																																																																																				0.662	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		127	403	0	0	0	1	0	127	403					A	75643079	G	A	75643079	2	1	79	1	0	0	0	0	0	0	0	1	16055	1074	38	1		1	TMED10	14	75643079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24231	75643079	31706461	14825	25142											
BATF	10538	broad.mit.edu	37	chr14	76012831	76012831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacctggagaaacagaaCgcggctctacgcaaggagat	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	65	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(193-195)aaC>aaT		basic leucine zipper transcription factor, ATF-like							69	56	60					14																	76012831		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012831C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.195C>T	14.37:g.76012831C>T						BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	p.N65N	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	453	+			65			Leucine-zipper.			Silent	SNP	ENST00000286639.6	37	c.195C>T	CCDS9843.1																																																																																				0.607	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		20	230	0	0	0	1	0	20	230					T	76012831	C	T	76012831	2	4	79	1	0	0	0	0	0	0	0	1	1326	535	19	1		1	BATF	14	76012831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369752	76012831	31336709	14826	25143											
FLVCR2	55640	broad.mit.edu	37	chr14	76108229	76108229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaagcaaacaaagaAactcttgagaacgtgagtat	9	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000238667.4	+	9	1853	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.E214E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	499					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1495-1497)gaA>gaG		feline leukemia virus subgroup C cellular receptor family, member 2							129	123	125					14																	76108229		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76108229A>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1497A>G	14.37:g.76108229A>G						FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000556856.1_Intron	p.E499E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	9	1853	+			499					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1497A>G	CCDS9844.1																																																																																				0.453	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		86	379	0	0	0	1	0	86	379					G	76108229	A	G	76108229	2	3	79	1	0	0	0	0	0	0	0	1	5971	11	1	4		4	FLVCR2	14	76108229	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95398	76108229	31241311	14827	25144											
TTLL5	23093	broad.mit.edu	37	chr14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatcatccatgcatcatgTggactggaggctgcaggaga	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000298832.9	+	3	299	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	32					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(94-96)Tgg>Cgg		tubulin tyrosine ligase-like family, member 5							180	174	176					14																	76135778		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76135778T>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.94T>C	14.37:g.76135778T>C	ENSP00000298832:p.Trp32Arg					TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R|TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R	p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	299	+			32					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.94T>C	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792195	0.70452	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.10763	2.84;3.06;3.32	5.39	5.39	0.77823	.	0.118493	0.64402	D	0.000006	T	0.30166	0.0756	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.949;0.962	T	0.01386	-1.1368	10	0.54805	T	0.06	.	12.9317	0.58290	0.0:0.0:0.0:1.0	.	32;32;32	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	R	32	ENSP00000450713:W32R;ENSP00000286650:W32R;ENSP00000298832:W32R	ENSP00000286650:W32R	W	+	1	0	TTLL5	75205531	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.832000	0.62759	2.039000	0.60335	0.383000	0.25322	TGG		0.408	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		26	569	0	0	0	1	0	26	569					C	76135778	T	C	76135778	3	2	79	1	0	0	0	0	1	0	0	0	16784	1696	59	4	100	4	TTLL5	14	76135778	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27549	76135778	31213762	14828	25145											
TTLL5	23093	broad.mit.edu	37	chr14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctggaggtgcgaaaaCgtagacgacggagtagcaga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000298832.9	+	19	1865	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	554	Poly-Arg.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1660-1662)Cgt>Tgt		tubulin tyrosine ligase-like family, member 5							125	112	116					14																	76231067		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76231067C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1660C>T	14.37:g.76231067C>T	ENSP00000298832:p.Arg554Cys					TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C	p.R554C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	19	1865	+			554			Poly-Arg.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1660C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342561	0.82022	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.57;3.67;1.57;1.44	5.29	5.29	0.74685	.	1.233700	0.05476	N	0.553897	T	0.46619	0.1402	L	0.43152	1.355	0.39164	D	0.962464	D;D;D	0.76494	0.998;0.999;0.996	P;P;P	0.56916	0.736;0.809;0.72	T	0.11348	-1.0591	10	0.72032	D	0.01	.	12.7236	0.57156	0.1642:0.8358:0.0:0.0	.	568;105;554	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	C	241;568;554;105;105;63	ENSP00000450713:R568C;ENSP00000298832:R554C;ENSP00000452524:R105C;ENSP00000451946:R63C	ENSP00000298832:R554C	R	+	1	0	TTLL5	75300820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.259000	0.43259	2.465000	0.83290	0.579000	0.79373	CGT		0.507	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		69	307	0	0	0	1	0	69	307					T	76231067	C	T	76231067	3	4	79	1	0	0	0	0	1	0	0	0	16784	536	19	1	1730	1	TTLL5	14	76231067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95289	76231067	31118473	14829	25146											
TTLL5	23093	broad.mit.edu	37	chr14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaaacagcaacagacgacaGaaattcattctgataaatta	5	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000298832.9	+	25	2783	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	860					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2578-2580)Gaa>Taa		tubulin tyrosine ligase-like family, member 5							98	96	97					14																	76248892		2203	4300	6503	SO:0001587	stop_gained	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76248892G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2578G>T	14.37:g.76248892G>T	ENSP00000298832:p.Glu860*					TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*	p.E860*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	25	2783	+			860					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Nonsense_Mutation	SNP	ENST00000298832.9	37	c.2578G>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315407	0.97467	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.83	5.83	0.93111	.	3.520550	0.00496	N	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.6339	0.76933	0.0:0.0:1.0:0.0	.	.	.	.	X	547;874;860;411;411;369	.	ENSP00000298832:E860X	E	+	1	0	TTLL5	75318645	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.372000	0.59530	2.770000	0.95276	0.655000	0.94253	GAA		0.338	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		43	191	1	0	3.21987e-24	1	3.67739e-24	43	191					T	76248892	G	T	76248892	4	4	79	1	0	0	0	0	0	1	0	0	16784	943	33	3	2672	3	TTLL5	14	76248892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17825	76248892	31100648	14830	25147											
C14orf118	55668	broad.mit.edu	37	chr14	76644343	76644343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttagaaagaataaagcGttggcttctgattttcctca	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76644343G>A	ENST00000261530.7	+	7	1131	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	GPATCH2L_ENST00000553588.1_5'Flank|GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	355																	AGAATAAAGCGTTGGCTTCTG	0.343																																						ENST00000261530.7																			0											c.(1063-1065)gcG>gcA		G patch domain containing 2-like							175	182	180					14																	76644343		2203	4300	6503	SO:0001819	synonymous_variant	55668							g.chr14:76644343G>A	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1065G>A	14.37:g.76644343G>A						GPATCH2L_ENST00000312858.5_Intron	p.A355A	NM_017926.2	NP_060396.2					7	1131	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	c.1065G>A	CCDS9848.1																																																																																				0.343	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		39	244	0	0	0	1	0	39	244					A	76644343	G	A	76644343	2	1	79	1	0	0	0	0	0	0	0	1	1746	1132	40	1		1	C14orf118	14	76644343	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395451	76644343	30705197	14831	25148											
ESRRB	2103	broad.mit.edu	37	chr14	76905708	76905708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacaggatgtcctcggaCgacaggcacctgggctccag	13	13	0	1	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000509242.1	+	3	110	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000380887.2_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.D4D	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	4					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(10-12)gaC>gaT		estrogen-related receptor beta							62	67	65					14																	76905708		2195	4287	6482	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905708C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.12C>T	14.37:g.76905708C>T						ESRRB_ENST00000509242.1_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D	p.D4D			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	84	+			4					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.12C>T	CCDS9850.2																																																																																				0.657	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			116	609	0	0	0	1	0	116	609					T	76905708	C	T	76905708	2	4	79	1	0	0	0	0	0	0	0	1	5279	535	19	1		1	ESRRB	14	76905708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261365	76905708	30443832	14832	25149											
C14orf4	64207	broad.mit.edu	37	chr14	77493962	77493962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcagccgtgcgcccgCttcagctggcgcgctgtctc	14	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77493962C>T	ENST00000238647.3	-	1	1072	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	58					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGTGCGCCCGCTTCAGCTGGC	0.692																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(172-174)aaG>aaA		interferon regulatory factor 2 binding protein-like							11	13	12					14																	77493962		2185	4275	6460	SO:0001819	synonymous_variant	64207					nucleus		g.chr14:77493962C>T	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.174G>A	14.37:g.77493962C>T							p.K58K	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1072	-			58					Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	c.174G>A	CCDS9854.1																																																																																				0.692	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		18	90	0	0	0	1	0	18	90					T	77493962	C	T	77493962	2	4	79	1	0	0	0	0	0	0	0	1	1778	796	28	2		2	C14orf4	14	77493962	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	588254	77493962	29855578	14833	25150											
KIAA1737	85457	broad.mit.edu	37	chr14	77576198	77576198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagagcagatggagtcCgaggacatgctgagcgcctt	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000361786.2	+	3	497	c.180C>T	c.(178-180)tcC>tcT	p.S60S	KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		60					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(178-180)tcC>tcT		KIAA1737							116	110	112					14																	77576198		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77576198C>T																												ENST00000361786.2:c.180C>T	14.37:g.77576198C>T						KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S	p.S60S	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	497	+			60					B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.180C>T	CCDS9855.1																																																																																				0.557	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			84	348	0	0	0	1	0	84	348					T	77576198	C	T	77576198	2	4	79	1	0	0	0	0	0	0	0	1	8285	639	23	1		1	KIAA1737	14	77576198	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82236	77576198	29773342	14834	25151											
KIAA1737	85457	broad.mit.edu	37	chr14	77580103	77580103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccatccagtccctcgacGccagcaccacccagcgccaa	7	21	0	0	rs546253011	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		214					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.002					ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(640-642)acG>acA		KIAA1737							46	44	45					14																	77580103		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77580103G>A																												ENST00000361786.2:c.642G>A	14.37:g.77580103G>A						RP11-463C8.4_ENST00000557752.1_Intron	p.T214T	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	959	+			214					B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.642G>A	CCDS9855.1																																																																																				0.582	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			35	232	0	0	0	1	0	35	232					A	77580103	G	A	77580103	2	1	79	1	0	0	0	0	0	0	0	1	8285	1074	38	1		1	KIAA1737	14	77580103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3905	77580103	29769437	14835	25152											
ZDHHC22	283576	broad.mit.edu	37	chr14	77605761	77605761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaaacagtgatggtcGtgcctcagggtgactctggc	15	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	107					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627																																						ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(319-321)caC>caT		zinc finger, DHHC-type containing 22							33	39	37					14																	77605761		2182	4273	6455	SO:0001819	synonymous_variant	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605761G>A	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.321C>T	14.37:g.77605761G>A						RP11-463C8.4_ENST00000557752.1_Intron	p.H107H	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	523	-			107					A6NH02|B7Z2L5|Q149P4	Silent	SNP	ENST00000319374.4	37	c.321C>T	CCDS45140.1																																																																																				0.627	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		21	72	0	0	0	1	0	21	72					A	77605761	G	A	77605761	2	1	79	1	0	0	0	0	0	0	0	1	17666	1136	40	1		1	ZDHHC22	14	77605761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25658	77605761	29743779	14836	25153											
ZDHHC22	283576	broad.mit.edu	37	chr14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgcagcacgaaggTcaccagggagatgcacaaga	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	22					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGCACGAAGGTCACCAGGGAG	0.677											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(64-66)Acc>Gcc		zinc finger, DHHC-type containing 22							10	13	12					14																	77606018		2105	4212	6317	SO:0001583	missense	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77606018T>C	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.64A>G	14.37:g.77606018T>C	ENSP00000318222:p.Thr22Ala		OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1177	RP11-463C8.4_ENST00000557752.1_Intron	p.T22A	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	266	-			22					A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	c.64A>G	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300149	0.95574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.55930	0.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.29908	0.895	0.80722	D	1	P	0.46656	0.882	P	0.48571	0.582	T	0.32348	-0.9910	10	0.09843	T	0.71	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	22	Q8N966	ZDH22_HUMAN	A	22	ENSP00000318222:T22A	ENSP00000318222:T22A	T	-	1	0	ZDHHC22	76675771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.163000	0.67991	0.459000	0.35465	ACC		0.677	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		7	45	0	0	0	1	0	7	45					C	77606018	T	C	77606018	3	2	79	1	0	0	0	0	1	0	0	0	17666	1667	58	4	735	4	ZDHHC22	14	77606018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	77606018	29743522	14837	25154											
POMT2	29954	broad.mit.edu	37	chr14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcccgtggccggcGgcatcttccccctcctctgg	12	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L	GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000557053.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	2						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGTGGCCGGCGGCATCTTCCC	0.746																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(4-6)cCg>cTg		protein-O-mannosyltransferase 2							9	10	10					14																	77787020		1496	3380	4876	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77787020G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.5C>T	14.37:g.77787020G>A	ENSP00000261534:p.Pro2Leu						p.P2L	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	207	-			2					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.5C>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139893	0.37728	.	.	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	4.99	1.9	0.25705	.	0.388197	0.26275	N	0.025302	T	0.52805	0.1757	N	0.08118	0	0.35751	D	0.819457	B	0.19073	0.033	B	0.09377	0.004	T	0.54576	-0.8273	10	0.72032	D	0.01	-11.0857	4.1682	0.10317	0.0892:0.1589:0.5879:0.164	.	2	Q9UKY4	POMT2_HUMAN	L	2	ENSP00000261534:P2L	ENSP00000261534:P2L	P	-	2	0	POMT2	76856773	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	3.318000	0.51975	1.051000	0.40369	0.655000	0.94253	CCG		0.746	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		29	108	0	0	0	1	0	29	108					A	77787020	G	A	77787020	3	1	79	1	0	0	0	0	1	0	0	0	12288	1116	39	1	2331	1	POMT2	14	77787020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181002	77787020	29562520	14838	25155											
TMED8	283578	broad.mit.edu	37	chr14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgtatgttcagactGgatcataacgatgtccccag	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTCAGACTGGATCATAACG	0.448																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(376-378)Cag>Tag		transmembrane emp24 protein transport domain containing 8							156	150	152					14																	77810118		2203	4300	6503	SO:0001587	stop_gained	283578				transport	integral to membrane		g.chr14:77810118G>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.376C>T	14.37:g.77810118G>A	ENSP00000216468:p.Gln126*						p.Q126*	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	431	-			126					B3KTI6|Q3MJB0|Q9P1V9	Nonsense_Mutation	SNP	ENST00000216468.7	37	c.376C>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000100580	ENST00000216468	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000216468:Q126X	Q	-	1	0	TMED8	76879871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.359000	0.73060	2.833000	0.97629	0.655000	0.94253	CAG		0.448	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		119	601	0	0	0	1	0	119	601					A	77810118	G	A	77810118	4	1	79	1	0	0	0	0	0	1	0	0	16063	1357	47	2	612	2	TMED8	14	77810118	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23098	77810118	29539422	14839	25156											
TMED8	283578	broad.mit.edu	37	chr14	77812773	77812773	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaaaggaccagttgctttCcgcagatcttccgtggcatc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	82					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTTGCTTTCCGCAGATCTT	0.517																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(244-246)cgG>cgA		transmembrane emp24 protein transport domain containing 8							107	107	107					14																	77812773		2203	4300	6503	SO:0001819	synonymous_variant	283578				transport	integral to membrane		g.chr14:77812773C>T	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.246G>A	14.37:g.77812773C>T							p.R82R	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	301	-			82					B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	c.246G>A	CCDS32125.1																																																																																				0.517	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		69	371	0	0	0	1	0	69	371					T	77812773	C	T	77812773	2	4	79	1	0	0	0	0	0	0	0	1	16063	842	30	2		2	TMED8	14	77812773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2655	77812773	29536767	14840	25157											
C14orf174	161394	broad.mit.edu	37	chr14	77857396	77857396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaaattgaagagccaTtattcaaacgctccatcagc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77857396T>G	ENST00000216471.4	+	3	2120	c.1834T>G	c.(1834-1836)Tta>Gta	p.L612V	SAMD15_ENST00000533095.2_Missense_Mutation_p.L26V	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	612										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGAGCCATTATTCAAACG	0.383																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1834-1836)Tta>Gta		sterile alpha motif domain containing 15							67	69	69					14																	77857396		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77857396T>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1834T>G	14.37:g.77857396T>G	ENSP00000216471:p.Leu612Val					SAMD15_ENST00000533095.2_Missense_Mutation_p.L26V	p.L612V	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			3	2120	+			612					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1834T>G	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576316	0.28092	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.20200	2.09	5.43	1.72	0.24424	Sterile alpha motif/pointed domain (1);	.	.	.	.	T	0.24392	0.0591	L	0.43152	1.355	0.19945	N	0.999946	P	0.44380	0.834	P	0.51385	0.668	T	0.12426	-1.0548	9	0.54805	T	0.06	-1.7538	4.1866	0.10400	0.0:0.2663:0.1712:0.5625	.	612	Q9P1V8	SAM15_HUMAN	V	26;612	ENSP00000216471:L612V	ENSP00000216471:L612V	L	+	1	2	SAMD15	76927149	0.030000	0.19436	0.255000	0.24374	0.507000	0.33981	-0.297000	0.08276	0.051000	0.15978	0.528000	0.53228	TTA		0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		57	281	0	0	0	1	0	57	281					G	77857396	T	G	77857396	3	3	79	1	0	0	0	0	1	0	0	0	1764	1490	52	4	1844	4	C14orf174	14	77857396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44623	77857396	29492144	14841	25158											
ISM2	145501	broad.mit.edu	37	chr14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagatgtccaggcgctcgCgagggccactggcatccctc	14	14	0	1	rs201324121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													C|||	0	0.0	0.0	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1120-1122)cGc>cAc		isthmin 2							30	32	32					14																	77942269		2203	4298	6501	SO:0001583	missense	145501					extracellular region		g.chr14:77942269C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1385G>A	14.37:g.77942269C>T	ENSP00000341490:p.Arg462His					ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000342219.4_Missense_Mutation_p.R462H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H	p.R374H			Q6H9L7	ISM2_HUMAN			8	1512	-			462					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1121G>A	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC		0.672	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		9	241	0	0	0	1	0	9	241					T	77942269	C	T	77942269	3	4	79	1	0	0	0	0	1	0	0	0	7891	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84873	77942269	29407271	14842	25159											
ISM2	145501	broad.mit.edu	37	chr14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgtaggctcacagggCtgtccatggcctccagtggg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000342219.4	-	7	1375	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	440	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1054-1056)aGc>aAc		isthmin 2							39	40	40					14																	77942335		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77942335C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1319G>A	14.37:g.77942335C>T	ENSP00000341490:p.Ser440Asn					ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000342219.4_Missense_Mutation_p.S440N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N	p.S352N			Q6H9L7	ISM2_HUMAN			8	1446	-			440			TSP type-1.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1055G>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394399	0.11638	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24538	1.85;1.87;1.86;2.18	4.98	4.09	0.47781	AMOP (3);	0.250260	0.44097	D	0.000485	T	0.18800	0.0451	L	0.28115	0.83	0.18873	N	0.999986	B;B	0.30068	0.225;0.267	B;B	0.28385	0.032;0.089	T	0.12293	-1.0553	10	0.41790	T	0.15	-4.4567	13.3096	0.60371	0.0:0.9229:0.0:0.0771	.	359;440	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	440;359;359;352	ENSP00000341490:S440N;ENSP00000416773:S359N;ENSP00000395387:S359N;ENSP00000377289:S352N	ENSP00000341490:S440N	S	-	2	0	ISM2	77012088	0.996000	0.38824	0.001000	0.08648	0.001000	0.01503	3.227000	0.51262	1.098000	0.41479	0.561000	0.74099	AGC		0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		69	254	0	0	0	1	0	69	254					T	77942335	C	T	77942335	3	4	79	1	0	0	0	0	1	0	0	0	7891	797	28	2	400	2	ISM2	14	77942335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66	77942335	29407205	14843	25160											
SPTLC2	9517	broad.mit.edu	37	chr14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccaaagagggtgagtaCgccataccccacatacgtga	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	80					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGGTGAGTACGCCATACCCC	0.398																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(238-240)Gta>Ata		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						130	111	117					14																	78063618		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78063618C>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.238G>A	14.37:g.78063618C>T	ENSP00000216484:p.Val80Ile						p.V80I	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	2	431	-			80					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.238G>A	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.663|4.663	0.123259|0.123259	0.08931|0.08931	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69806	.|-0.43	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.127042	.|0.53938	.|D	.|0.000048	T|T	0.29817|0.29817	0.0745|0.0745	N|N	0.00926|0.00926	-1.1|-1.1	0.42181|0.42181	D|D	0.991685|0.991685	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.02654	.|T	.|1	-16.3828|-16.3828	9.2779|9.2779	0.37711|0.37711	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|80	.|O15270	.|SPTC2_HUMAN	H|I	16|80	.|ENSP00000216484:V80I	.|ENSP00000216484:V80I	R|V	-|-	2|1	0|0	SPTLC2|SPTLC2	77133371|77133371	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.994000|0.994000	0.84299|0.84299	3.820000|3.820000	0.55693|0.55693	2.412000|2.412000	0.81896|0.81896	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		57	191	0	0	0	1	0	57	191					T	78063618	C	T	78063618	3	4	79	1	0	0	0	0	1	0	0	0	15176	536	19	1	1494	1	SPTLC2	14	78063618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121283	78063618	29285922	14844	25161											
ALKBH1	8846	broad.mit.edu	37	chr14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcaaatccacaggcagCggctacttgctctgagagga	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	205					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(613-615)Gct>Act		alkB, alkylation repair homolog 1 (E. coli)							89	89	89					14																	78142126		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142126C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.613G>A	14.37:g.78142126C>T	ENSP00000216489:p.Ala205Thr						p.A205T	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	628	-			205					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.613G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834784	0.32421	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	1.31	0.21738	.	0.172481	0.51477	N	0.000096	T	0.10380	0.0254	L	0.49778	1.585	0.29447	N	0.858722	P	0.37663	0.604	B	0.32465	0.146	T	0.24012	-1.0172	10	0.15499	T	0.54	-20.6112	10.5931	0.45321	0.0:0.6266:0.0:0.3734	.	205	Q13686	ALKB1_HUMAN	T	205	ENSP00000216489:A205T	ENSP00000216489:A205T	A	-	1	0	ALKBH1	77211879	0.005000	0.15991	0.031000	0.17742	0.888000	0.51559	0.135000	0.15952	-0.021000	0.14009	-0.123000	0.14984	GCT		0.458	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		58	292	0	0	0	1	0	58	292					T	78142126	C	T	78142126	3	4	79	1	0	0	0	0	1	0	0	0	526	768	27	1	564	1	ALKBH1	14	78142126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78508	78142126	29207414	14845	25162											
SNW1	22938	broad.mit.edu	37	chr14	78189607	78189607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatttcatccctctcacgTgcctccccatcctctgtgtg	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.A187A|SNW1_ENST00000555761.1_Silent_p.A349A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	349					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1045-1047)gcA>gcG		SNW domain containing 1							136	109	118					14																	78189607		2203	4300	6503	SO:0001819	synonymous_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78189607T>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1047A>G	14.37:g.78189607T>C						SNW1_ENST00000555761.1_Silent_p.A349A|SNW1_ENST00000554775.1_Silent_p.A187A|SLIRP_ENST00000557431.1_Intron	p.A349A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	11	1109	-			349					A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	c.1047A>G	CCDS9867.1																																																																																				0.413	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		89	395	0	0	0	1	0	89	395					C	78189607	T	C	78189607	2	2	79	1	0	0	0	0	0	0	0	1	14929	1683	59	4		4	SNW1	14	78189607	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47481	78189607	29159933	14846	25163											
SNW1	22938	broad.mit.edu	37	chr14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatcttgccttttcttcaGcctcaagctggtcctgagat	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A20D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	20					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(58-60)gCt>gAt		SNW domain containing 1							69	60	63					14																	78221419		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78221419G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.59C>A	14.37:g.78221419G>T	ENSP00000261531:p.Ala20Asp					SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron	p.A20D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	2	121	-			20					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.59C>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671489	0.47781	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.145914	0.64402	D	0.000009	T	0.41373	0.1156	N	0.26042	0.785	0.58432	D	0.999999	B;B	0.24186	0.001;0.099	B;B	0.19946	0.002;0.027	T	0.27502	-1.0072	9	0.14252	T	0.57	.	11.4594	0.50202	0.1068:0.0:0.8932:0.0	.	20;20	G3V3A4;Q13573	.;SNW1_HUMAN	D	20	.	ENSP00000261531:A20D	A	-	2	0	SNW1	77291172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.028000	0.70889	2.873000	0.98535	0.561000	0.74099	GCT		0.453	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		25	142	1	0	2.14196e-07	1	2.22428e-07	25	142					T	78221419	G	T	78221419	3	4	79	1	0	0	0	0	1	0	0	0	14929	971	34	3	1603	3	SNW1	14	78221419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31812	78221419	29128121	14847	25164											
ADCK1	57143	broad.mit.edu	37	chr14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagagtttgagtttatGtggcttgtggatgaagccaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	217	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(628-630)atG>atA		aarF domain containing kinase 1							179	155	163					14																	78365490		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365490G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.630G>A	14.37:g.78365490G>A	ENSP00000238561:p.Met210Ile					ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	p.M210I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	6	729	+			217			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.630G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553053	0.45487	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54071	0.59;0.59;0.59	5.53	3.64	0.41730	.	0.118251	0.85682	N	0.000000	T	0.40791	0.1131	L	0.31294	0.92	0.80722	D	1	B;B	0.23806	0.091;0.05	B;B	0.29663	0.105;0.037	T	0.27773	-1.0064	10	0.36615	T	0.2	-51.955	10.9727	0.47448	0.0702:0.13:0.7999:0.0	.	142;210	Q9UIE6;Q86TW2-2	.;.	I	210;210;142	ENSP00000238561:M210I;ENSP00000451549:M210I;ENSP00000339663:M142I	ENSP00000238561:M210I	M	+	3	0	ADCK1	77435243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.677000	0.74503	1.335000	0.45486	0.591000	0.81541	ATG		0.502	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		126	517	0	0	0	1	0	126	517					A	78365490	G	A	78365490	3	1	79	1	0	0	0	0	1	0	0	0	288	1377	48	2	648	2	ADCK1	14	78365490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144071	78365490	28984050	14848	25165											
ADCK1	57143	broad.mit.edu	37	chr14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatctcacgccacctgGgcaagatgtatagtgagatg	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	299	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(874-876)Ggc>Tgc		aarF domain containing kinase 1							98	89	92					14																	78390815		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390815G>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.874G>T	14.37:g.78390815G>T	ENSP00000238561:p.Gly292Cys					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C	p.G292C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	973	+			299			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.874G>T	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986766	0.93106	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.81739	1.57;-1.53;1.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85455	0.1163	10	0.36615	T	0.2	-19.8807	19.6876	0.95986	0.0:0.0:1.0:0.0	.	224;292	Q9UIE6;Q86TW2-2	.;.	C	292;253;224	ENSP00000238561:G292C;ENSP00000451549:G253C;ENSP00000339663:G224C	ENSP00000238561:G292C	G	+	1	0	ADCK1	77460568	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.665000	0.98609	2.659000	0.90383	0.655000	0.94253	GGC		0.572	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		67	303	1	0	3.89499e-28	1	4.52561e-28	67	303					T	78390815	G	T	78390815	3	4	79	1	0	0	0	0	1	0	0	0	288	1232	43	3	900	3	ADCK1	14	78390815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25325	78390815	28958725	14849	25166											
ADCK1	57143	broad.mit.edu	37	chr14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagcgactgggagccGgggatctctaccccttgttt	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	378	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1111-1113)Ggg>Agg		aarF domain containing kinase 1							149	152	151					14																	78392209		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78392209G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1111G>A	14.37:g.78392209G>A	ENSP00000238561:p.Gly371Arg					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R	p.G371R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	9	1210	+			378			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1111G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966020	0.92855	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.1	5.26	5.26	0.73747	.	0.049936	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86805	2.84	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.992	P;P;D	0.66979	0.823;0.868;0.948	D	0.85534	0.1211	10	0.49607	T	0.09	-20.5345	18.8748	0.92331	0.0:0.0:1.0:0.0	.	378;303;371	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	371;303	ENSP00000238561:G371R;ENSP00000339663:G303R	ENSP00000238561:G371R	G	+	1	0	ADCK1	77461962	1.000000	0.71417	0.385000	0.26158	0.882000	0.50991	9.818000	0.99354	2.461000	0.83175	0.643000	0.83706	GGG		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		158	731	0	0	0	1	0	158	731					A	78392209	G	A	78392209	3	1	79	1	0	0	0	0	1	0	0	0	288	1116	39	1	1141	1	ADCK1	14	78392209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1394	78392209	28957331	14850	25167											
NRXN3	9369	broad.mit.edu	37	chr14	79175616	79175616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcctggcccggattgcGgacaccaagatgaaaatcta	10	12	2	2	rs201310991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175616G>A	ENST00000554719.1	+	4	650	c.159G>A	c.(157-159)gcG>gcA	p.A53A	NRXN3_ENST00000335750.5_Silent_p.A53A|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.A53A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCGGATTGCGGACACCAAGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.0		0.001	False		,,,				2504	0.0					ENST00000554719.1																			1	Substitution - coding silent(1)	p.A53A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(157-159)gcG>gcA		neurexin 3							92	92	92					14																	79175616		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175616G>A	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.159G>A	14.37:g.79175616G>A						RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.A53A	p.A53A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	650	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.159G>A	CCDS9870.1																																																																																				0.463	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		64	319	0	0	0	1	0	64	319					A	79175616	G	A	79175616	2	1	79	1	0	0	0	0	0	0	0	1	10709	1103	39	1		1	NRXN3	14	79175616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783407	79175616	28173924	14851	25168											
NRXN3	9369	broad.mit.edu	37	chr14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagatgaaaatctatggcGaagttgtgtttaagtgtgag	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			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)		AATCTATGGCGAAGTTGTGTT	0.468																																						ENST00000554719.1																			0				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						c.(184-186)Gaa>Aaa		neurexin 3							105	101	102					14																	79175641		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175641G>A	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.184G>A	14.37:g.79175641G>A	ENSP00000451648:p.Glu62Lys					RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K	p.E62K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	675	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.184G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118189	0.37339	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78595	-1.19;-0.25;-0.25;-1.19	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.126176	0.56097	D	0.000030	T	0.57330	0.2046	N	0.08118	0	0.46849	D	0.999226	P;P	0.42993	0.797;0.622	B;B	0.32090	0.085;0.14	T	0.61302	-0.7090	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	435;62	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	435;433;6;62;62;6	ENSP00000451947:E6K;ENSP00000451648:E62K;ENSP00000338349:E62K;ENSP00000450462:E6K	.	E	+	1	0	NRXN3	78245394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	GAA		0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		78	324	0	0	0	1	0	78	324					A	79175641	G	A	79175641	3	1	79	1	0	0	0	0	1	0	0	0	10709	1059	37	1	190	1	NRXN3	14	79175641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	79175641	28173899	14852	25169											
NRXN3	9369	broad.mit.edu	37	chr14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggcaacagtgaccGccccctgaatgacaaccagt	9	13	1	3	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	166					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)		AACAGTGACCGCCCCCTGAAT	0.423																																						ENST00000554719.1																			0				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						c.(1720-1722)cGc>cAc		neurexin 3		G	HIS/ARG	0,4406		0,0,2203	102	87	92		1721	6	1	14	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	574/1062	79433613	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79433613G>A	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.1721G>A	14.37:g.79433613G>A	ENSP00000451648:p.Arg574His					NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2212	+		Renal(4;0.00876)	166					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1721G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288622	0.80914	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78126	-1.15;-1.15	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.233245	0.41938	D	0.000781	D	0.85639	0.5743	.	.	.	0.50813	D	0.999897	D;B	0.65815	0.995;0.137	P;B	0.55871	0.786;0.027	D	0.83950	0.0316	8	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	947;574	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	947;936;574;574	ENSP00000451648:R574H;ENSP00000338349:R574H	.	R	+	2	0	NRXN3	78503366	0.998000	0.40836	0.992000	0.48379	0.685000	0.39939	3.259000	0.51515	2.873000	0.98535	0.561000	0.74099	CGC		0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		57	239	0	0	0	1	0	57	239					A	79433613	G	A	79433613	3	1	79	1	0	0	0	0	1	0	0	0	10709	1087	38	1	1751	1	NRXN3	14	79433613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257972	79433613	27915927	14853	25170											
NRXN3	9369	broad.mit.edu	37	chr14	79454462	79454462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgttctatgacctcttaTtctggaaaccagtgcaatga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			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)		TGACCTCTTATTCTGGAAACC	0.438																																						ENST00000554719.1																			0				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						c.(2119-2121)taT>taC		neurexin 3							167	156	160					14																	79454462		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79454462T>C	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.2121T>C	14.37:g.79454462T>C						NRXN3_ENST00000335750.5_Silent_p.Y707Y	p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2612	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.2121T>C	CCDS9870.1																																																																																				0.438	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		91	461	0	0	0	1	0	91	461					C	79454462	T	C	79454462	2	2	79	1	0	0	0	0	0	0	0	1	10709	1500	52	4		4	NRXN3	14	79454462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20849	79454462	27895078	14854	25171											
NRXN3	9369	broad.mit.edu	37	chr14	80158534	80158534	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaacactgataatgaacGcttccaaatggtaaaacaga	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80158534G>A	ENST00000557594.1	+	4	1554				NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.R207H|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						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)		GATAATGAACGCTTCCAAATG	0.328																																						ENST00000428277.2																			0				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						c.(619-621)cGc>cAc		neurexin 3							60	56	57					14																	80158534		1802	4073	5875	SO:0001627	intron_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80158534G>A	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		ENST00000557594.1:c.602-5439G>A	14.37:g.80158534G>A						NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000556003.1_Intron	p.R207H	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1006	+		Renal(4;0.00876)	200			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	G	17.92	3.507000	0.64410	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.38240	1.15	5.45	5.45	0.79879	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	D	0.89917	1.0	P	0.57468	0.821	T	0.49399	-0.8944	7	.	.	.	.	13.2797	0.60208	0.0:0.0:0.8417:0.1583	.	207	Q9HDB5-4	.	H	1201;207	ENSP00000394426:R207H	.	R	+	2	0	NRXN3	79228287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.555000	0.86185	0.650000	0.86243	CGC		0.328	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		30	114	0	0	0	1	0	30	114					A	80158534	G	A	80158534	1	1	79	0	1	0	0	0	0	0	0	0	10709	1087	38	1		1	NRXN3	14	80158534	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704072	80158534	27191006	14855	25172											
DIO2	1734	broad.mit.edu	37	chr14	80669213	80669213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcgttattgtccatgCggtcagccacaactcggcac	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669213C>T	ENST00000557010.1	-	4	1026	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	214					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATTGTCCATGCGGTCAGCCAC	0.547											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(640-642)cGc>cAc		deiodinase, iodothyronine, type II							84	86	86					14																	80669213		2053	4188	6241	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669213C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.641G>A	14.37:g.80669213C>T	ENSP00000451419:p.Arg214His		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H	p.R214H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1026	-			214					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.641G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872074	0.72180	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.33216	1.42;1.42;1.42	5.77	5.77	0.91146	.	0.147221	0.45606	D	0.000345	T	0.35740	0.0942	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.981;0.985;0.997	P;P;P	0.56700	0.578;0.703;0.804	T	0.16217	-1.0410	10	0.46703	T	0.11	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	250;214;250	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	H	214;214;250	ENSP00000405854:R214H;ENSP00000451419:R214H;ENSP00000450980:R250H	ENSP00000405854:R214H	R	-	2	0	DIO2	79738966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.946000	0.70234	2.724000	0.93272	0.650000	0.86243	CGC		0.547	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			63	311	0	0	0	1	0	63	311					T	80669213	C	T	80669213	3	4	79	1	0	0	0	0	1	0	0	0	4541	768	27	1	184	1	DIO2	14	80669213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510679	80669213	26680327	14856	25173											
DIO2	1734	broad.mit.edu	37	chr14	80669239	80669239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaactcggcactggggCggcaaggagaaacgctccag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669239C>T	ENST00000557010.1	-	4	1000	c.615G>A	c.(613-615)ccG>ccA	p.P205P	DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.P241P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	205					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			1	Substitution - coding silent(1)	p.P205P(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(613-615)ccG>ccA		deiodinase, iodothyronine, type II							73	76	75					14																	80669239		2048	4194	6242	SO:0001819	synonymous_variant	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669239C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.615G>A	14.37:g.80669239C>T			OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Silent_p.P241P	p.P205P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1000	-			205					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	c.615G>A	CCDS45146.1																																																																																				0.537	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			30	328	0	0	0	1	0	30	328					T	80669239	C	T	80669239	2	4	79	1	0	0	0	0	0	0	0	1	4541	755	27	1		1	DIO2	14	80669239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	80669239	26680301	14857	25174											
C14orf145	145508	broad.mit.edu	37	chr14	81329141	81329141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcccagttgatcctggCgtctttccaccagctccctt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81329141C>T	ENST00000555265.1	-	9	1097	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CEP128_ENST00000281129.3_Missense_Mutation_p.R241H|CEP128_ENST00000216517.6_Missense_Mutation_p.R241H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						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						TTGATCCTGGCGTCTTTCCAC	0.463																																						ENST00000555265.1																			0				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						c.(721-723)cGc>cAc		centrosomal protein 128kDa							136	117	124					14																	81329141		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81329141C>T	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.722G>A	14.37:g.81329141C>T	ENSP00000451162:p.Arg241His					CEP128_ENST00000281129.3_Missense_Mutation_p.R241H|CEP128_ENST00000216517.6_Missense_Mutation_p.R241H	p.R241H			Q6ZU80	CE128_HUMAN			9	1097	-			241					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.722G>A	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692058|2.692058	0.48097|0.48097	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.55930	.|1.13;1.13;0.49	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.155258	.|0.45606	.|D	.|0.000341	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.67145	.|0.925;0.988;0.996	.|B;P;P	.|0.57371	.|0.271;0.737;0.819	T|T	0.53913|0.53913	-0.8371|-0.8371	5|10	.|0.33940	.|T	.|0.23	.|.	12.7223|12.7223	0.57149|0.57149	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|241;122;241	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|H	120|241	.|ENSP00000281129:R241H;ENSP00000451162:R241H;ENSP00000216517:R241H	.|ENSP00000216517:R241H	A|R	-|-	1|2	0|0	CEP128|CEP128	80398894|80398894	0.924000|0.924000	0.31332|0.31332	0.947000|0.947000	0.38551|0.38551	0.019000|0.019000	0.09904|0.09904	1.774000|1.774000	0.38573|0.38573	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		93	443	0	0	0	1	0	93	443					T	81329141	C	T	81329141	3	4	79	1	0	0	0	0	1	0	0	0	1754	768	27	1	2630	1	C14orf145	14	81329141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	659902	81329141	26020399	14858	25175											
TSHR	7253	broad.mit.edu	37	chr14	81554371	81554371	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccccctcctaaagttcCtgtaagtattaaatcctctc	4	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000554263.1_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	131					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.e5+1		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						96	83	88					14																	81554371		2203	4300	6503	SO:0001630	splice_region_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81554371C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.392+1C>A	14.37:g.81554371C>A						TSHR_ENST00000298171.2_Splice_Site_p.L131_splice|TSHR_ENST00000554435.1_Splice_Site_p.L131_splice|TSHR_ENST00000342443.6_Splice_Site_p.L131_splice|TSHR_ENST00000554263.1_Splice_Site_p.L131_splice	p.L131_splice			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	5	713	+			131					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Splice_Site	SNP	ENST00000541158.2	37	c.392_splice	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412972	0.83449	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.90145	3.09	0.58432	D	0.999999	D;B;D;P	0.67145	0.985;0.321;0.996;0.637	D;P;D;P	0.75484	0.986;0.631;0.973;0.546	D	0.96868	0.9637	10	0.46703	T	0.11	.	15.6391	0.76981	0.0:1.0:0.0:0.0	.	131;131;131;131	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	I	131	ENSP00000441235:L131I;ENSP00000340113:L131I;ENSP00000298171:L131I;ENSP00000451202:L131I;ENSP00000450549:L131I	ENSP00000298171:L131I	L	+	1	0	TSHR	80624124	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.601000	0.61090	2.764000	0.94973	0.655000	0.94253	CTT		0.458	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	Missense_Mutation	55	224	1	0	7.89702e-26	1	9.07718e-26	55	224					A	81554371	C	A	81554371	5	1	79	1	0	0	0	0	0	0	1	0	16675	695	24	3	405	3	TSHR	14	81554371	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225230	81554371	25795169	14859	25176											
TSHR	7253	broad.mit.edu	37	chr14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccaagttccaggataCtcataacaacgctcattatt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	346					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1036-1038)aCt>aTt		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						224	203	210					14																	81609439		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609439C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1037C>T	14.37:g.81609439C>T	ENSP00000441235:p.Thr346Ile					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I	p.T346I			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1359	+			346					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1037C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404780	0.01155	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75154	-0.91;-0.91	5.78	-1.26	0.09376	.	0.851176	0.10874	N	0.624546	T	0.50871	0.1641	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25537	-1.0129	10	0.18710	T	0.47	.	2.0865	0.03647	0.1153:0.3039:0.1487:0.4321	.	346	F5GYU5	.	I	346	ENSP00000441235:T346I;ENSP00000298171:T346I	ENSP00000298171:T346I	T	+	2	0	TSHR	80679192	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.914000	0.28624	-0.070000	0.12908	0.655000	0.94253	ACT		0.438	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		86	407	0	0	0	1	0	86	407					T	81609439	C	T	81609439	3	4	79	1	0	0	0	0	1	0	0	0	16675	565	20	2	1212	2	TSHR	14	81609439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55068	81609439	25740101	14860	25177											
TSHR	7253	broad.mit.edu	37	chr14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtactacaaccatgccatcGactggcagacaggccctggg	11	13	0	1	rs201463943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	487					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1459-1461)Gac>Aac		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)	G	ASN/ASP	0,4406		0,0,2203	548	397	448		1459	5.6	1	14		448	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	487/765	81609861	1,13005	2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609861G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1459G>A	14.37:g.81609861G>A	ENSP00000441235:p.Asp487Asn					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N	p.D487N			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1781	+			487					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1459G>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453515	0.63290	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85484	-1.99;-1.99	5.64	5.64	0.86602	.	0.084418	0.85682	D	0.000000	D	0.84147	0.5408	M	0.74881	2.28	0.58432	D	0.999999	B	0.34161	0.439	B	0.32149	0.141	D	0.84814	0.0792	10	0.66056	D	0.02	.	12.9763	0.58538	0.074:0.0:0.926:0.0	.	487	F5GYU5	.	N	487;134;487	ENSP00000441235:D487N;ENSP00000298171:D487N	ENSP00000298171:D487N	D	+	1	0	TSHR	80679614	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	8.061000	0.89467	2.664000	0.90586	0.561000	0.74099	GAC		0.552	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		85	295	0	0	0	1	0	85	295					A	81609861	G	A	81609861	3	1	79	1	0	0	0	0	1	0	0	0	16675	1058	37	1	1634	1	TSHR	14	81609861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	81609861	25739679	14861	25178											
STON2	85439	broad.mit.edu	37	chr14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagtgggaatggtcttgaGagcctccatccaccacatgg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000267540.2	-	2	379	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000555447.1_Missense_Mutation_p.S60Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	60					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGTCTTGAGAGCCTCCATC	0.602																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(178-180)tCt>tAt		stonin 2							79	72	74					14																	81862432		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81862432G>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.179C>A	14.37:g.81862432G>T	ENSP00000267540:p.Ser60Tyr					STON2_ENST00000267540.2_Missense_Mutation_p.S60Y	p.S60Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	591	-			60					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.179C>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108371	0.37242	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	Stonin-2, N-terminal (1);	0.399278	0.26126	N	0.026196	T	0.80768	0.4686	L	0.56769	1.78	0.30386	N	0.781489	B;P;B	0.35155	0.213;0.487;0.178	B;B;B	0.37650	0.09;0.255;0.054	T	0.81035	-0.1115	10	0.51188	T	0.08	-16.2854	11.0189	0.47707	0.0841:0.0:0.9159:0.0	.	60;60;60	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	60;72;60	ENSP00000450857:S60Y;ENSP00000267540:S60Y	ENSP00000267540:S60Y	S	-	2	0	STON2	80932185	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	1.966000	0.40481	2.751000	0.94390	0.655000	0.94253	TCT		0.602	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		34	292	1	0	8.4185e-14	1	9.11178e-14	34	292					T	81862432	G	T	81862432	3	4	79	1	0	0	0	0	1	0	0	0	15370	942	33	3	2552	3	STON2	14	81862432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252571	81862432	25487108	14862	25179											
FLRT2	23768	broad.mit.edu	37	chr14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaagctcaaggaattttCaattgtacgtaattcgctgt	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	236					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGAATTTTCAATTGTACGT	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(706-708)tCa>tTa		fibronectin leucine rich transmembrane protein 2							86	86	86					14																	86088565		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088565C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.707C>T	14.37:g.86088565C>T	ENSP00000332879:p.Ser236Leu					FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1474	+			236					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.707C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989031	0.74589	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.78	5.78	0.91487	.	0.057139	0.64402	D	0.000001	T	0.44623	0.1302	N	0.21097	0.63	0.80722	D	1	P	0.48089	0.905	B	0.43728	0.429	T	0.21484	-1.0244	10	0.19590	T	0.45	-14.9232	20.0026	0.97425	0.0:1.0:0.0:0.0	.	236	O43155	FLRT2_HUMAN	L	236	ENSP00000332879:S236L;ENSP00000451050:S236L	ENSP00000332879:S236L	S	+	2	0	FLRT2	85158318	1.000000	0.71417	0.474000	0.27266	0.730000	0.41778	7.817000	0.86213	2.722000	0.93159	0.650000	0.86243	TCA		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			98	379	0	0	0	1	0	98	379					T	86088565	C	T	86088565	3	4	79	1	0	0	0	0	1	0	0	0	5964	838	29	2	709	2	FLRT2	14	86088565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4226133	86088565	21260975	14863	25180											
FLRT2	23768	broad.mit.edu	37	chr14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcctggttaacttagagCcccgatccacctatcggatt	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	485	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTTAGAGCCCCGATCCAC	0.522																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1453-1455)Ccc>Tcc		fibronectin leucine rich transmembrane protein 2							147	128	135					14																	86089311		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089311C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1453C>T	14.37:g.86089311C>T	ENSP00000332879:p.Pro485Ser					FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2220	+			485			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1453C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544586	0.45280	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.68479	-0.33;-0.33	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.55990	1.75	0.80722	D	1	P	0.44139	0.827	B	0.42087	0.375	T	0.71686	-0.4518	10	0.87932	D	0	-27.8567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	485	O43155	FLRT2_HUMAN	S	485;485;138	ENSP00000332879:P485S;ENSP00000451050:P485S	ENSP00000332879:P485S	P	+	1	0	FLRT2	85159064	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	CCC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			108	548	0	0	0	1	0	108	548					T	86089311	C	T	86089311	3	4	79	1	0	0	0	0	1	0	0	0	5964	739	26	2	1455	2	FLRT2	14	86089311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	86089311	21260229	14864	25181											
GALC	2581	broad.mit.edu	37	chr14	88411996	88411996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgtgaagtgatgctcgCcagggtcttcaatatttgta	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88411996C>T	ENST00000261304.2	-	14	1677	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	GALC_ENST00000393568.4_Missense_Mutation_p.G501D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000544807.2_Missense_Mutation_p.G468D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	524					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGATGCTCGCCAGGGTCTTC	0.408																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1570-1572)gGc>gAc		galactosylceramidase							106	102	103					14																	88411996		1850	4093	5943	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411996C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1571G>A	14.37:g.88411996C>T	ENSP00000261304:p.Gly524Asp					GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D	p.G524D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			14	1677	-			524					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1571G>A	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854964	0.51376	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.51	3.57	0.40892	.	0.102365	0.64402	D	0.000002	D	0.93080	0.7797	M	0.64676	1.99	0.58432	D	0.999999	B;B;B;B	0.23990	0.013;0.044;0.035;0.095	B;B;B;B	0.31245	0.01;0.091;0.032;0.126	D	0.91738	0.5402	10	0.51188	T	0.08	-13.2204	13.2731	0.60172	0.1253:0.7539:0.1208:0.0	.	468;501;498;524	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	D	524;468;498;313;501	ENSP00000261304:G524D;ENSP00000437513:G468D;ENSP00000377199:G498D;ENSP00000377198:G501D	ENSP00000261304:G524D	G	-	2	0	GALC	87481749	1.000000	0.71417	0.884000	0.34674	0.018000	0.09664	5.790000	0.69038	1.444000	0.47605	0.591000	0.81541	GGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			11	520	0	0	0	1	0	11	520					T	88411996	C	T	88411996	3	4	79	1	0	0	0	0	1	0	0	0	6229	739	26	2	502	2	GALC	14	88411996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322685	88411996	18937544	14865	25182											
GPR65	8477	broad.mit.edu	37	chr14	88477387	88477387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatttactctatgcattaActctccctttatggattgat	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88477387A>C	ENST00000267549.3	+	2	754	c.196A>C	c.(196-198)Act>Cct	p.T66P	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	66					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTATGCATTAACTCTCCCTTT	0.378																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(196-198)Act>Cct		G protein-coupled receptor 65							157	154	155					14																	88477387		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477387A>C	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.196A>C	14.37:g.88477387A>C	ENSP00000267549:p.Thr66Pro					RP11-300J18.2_ENST00000554433.1_RNA	p.T66P	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	754	+			66					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.196A>C	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165130	0.57476	.	.	ENSG00000140030	ENST00000267549	T	0.73789	-0.78	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.251553	0.29314	N	0.012518	D	0.87466	0.6184	M	0.87900	2.915	0.39757	D	0.971971	D	0.69078	0.997	D	0.67548	0.952	D	0.89914	0.4054	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	66	Q8IYL9	PSYR_HUMAN	P	66	ENSP00000267549:T66P	ENSP00000267549:T66P	T	+	1	0	GPR65	87547140	0.975000	0.34042	0.897000	0.35233	0.482000	0.33219	5.096000	0.64535	2.221000	0.72209	0.528000	0.53228	ACT		0.378	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			13	702	0	0	0	1	0	13	702					C	88477387	A	C	88477387	3	2	79	1	0	0	0	0	1	0	0	0	6735	43	2	4	198	4	GPR65	14	88477387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65391	88477387	18872153	14866	25183											
KCNK10	54207	broad.mit.edu	37	chr14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggatgaggccttgaagCggccggtgtccagggcagca	17	11	0	2	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1219-1221)cGc>cAc		potassium channel, subfamily K, member 10		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	61	60		1220,1235,1235	4.8	1	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652276C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	14.37:g.88652276C>T	ENSP00000343104:p.Arg407His					KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H|KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H	p.R407H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			7	1671	-			407					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1220G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		95	375	0	0	0	1	0	95	375					T	88652276	C	T	88652276	3	4	79	1	0	0	0	0	1	0	0	0	8089	768	27	1	400	1	KCNK10	14	88652276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174889	88652276	18697264	14867	25184											
KCNK10	54207	broad.mit.edu	37	chr14	88654372	88654372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcatactgaggacagctGcaaagtaggcaaggccaaca	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88654372G>A	ENST00000340700.5	-	6	1386	c.935C>T	c.(934-936)gCa>gTa	p.A312V	KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	312					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGACAGCTGCAAAGTAGGC	0.473																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(934-936)gCa>gTa		potassium channel, subfamily K, member 10							155	152	153					14																	88654372		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654372G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.935C>T	14.37:g.88654372G>A	ENSP00000343104:p.Ala312Val					KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V|KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V	p.A312V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			6	1386	-			312					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.935C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411462	0.96072	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.32023	1.47;1.47;1.47	5.82	5.82	0.92795	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	1.0;1.0;0.954	T	0.50882	-0.8775	10	0.45353	T	0.12	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	312;317;317	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	312;317;317	ENSP00000343104:A312V;ENSP00000310568:A317V;ENSP00000312811:A317V	ENSP00000310568:A317V	A	-	2	0	KCNK10	87724125	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.561000	0.74099	GCA		0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		11	565	0	0	0	1	0	11	565					A	88654372	G	A	88654372	3	1	79	1	0	0	0	0	1	0	0	0	8089	1319	46	2	689	2	KCNK10	14	88654372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	88654372	18695168	14868	25185											
KCNK10	54207	broad.mit.edu	37	chr14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcacaaacacaatgcagCcggccaagatgaacaggatg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D|KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	243					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(727-729)gGc>gAc		potassium channel, subfamily K, member 10							198	179	186					14																	88658693		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658693C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.728G>A	14.37:g.88658693C>T	ENSP00000343104:p.Gly243Asp					KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D|KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D	p.G243D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1179	-			243					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.728G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438248	0.96168	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74284	-0.3715	10	0.66056	D	0.02	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	243;248;248	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	243;248;248	ENSP00000343104:G243D;ENSP00000310568:G248D;ENSP00000312811:G248D	ENSP00000310568:G248D	G	-	2	0	KCNK10	87728446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GGC		0.507	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		82	464	0	0	0	1	0	82	464					T	88658693	C	T	88658693	3	4	79	1	0	0	0	0	1	0	0	0	8089	739	26	2	900	2	KCNK10	14	88658693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4321	88658693	18690847	14869	25186											
SPATA7	55812	broad.mit.edu	37	chr14	88904553	88904553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatccaagtatttcagaCagtttaacagatcgggaaac	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000393545.4	+	12	1876	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000556553.1_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	529					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(1489-1491)gaC>gaT		spermatogenesis associated 7							79	76	77					14																	88904553		2203	4300	6503	SO:0001819	synonymous_variant	55812				response to stimulus|visual perception			g.chr14:88904553C>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1587C>T	14.37:g.88904553C>T						SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000393545.4_Silent_p.D529D	p.D497D			Q9P0W8	SPAT7_HUMAN			12	2050	+			529					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	c.1491C>T	CCDS9883.1																																																																																				0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			50	319	0	0	0	1	0	50	319					T	88904553	C	T	88904553	2	4	79	1	0	0	0	0	0	0	0	1	15066	477	17	2		2	SPATA7	14	88904553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245860	88904553	18444987	14870	25187											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	310						8	310	---	---	---	---	-	88945630	TCC	-	88945628	7	5	79	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	41075	88945628	18403912	14871	25188											
PTPN21	11099	broad.mit.edu	37	chr14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagctgtagctcaggCtgaacgggcagtgtgcggcc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	513					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAGCTCAGGCTGAACGGGCA	0.711																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1537-1539)aGc>aAc		protein tyrosine phosphatase, non-receptor type 21							35	44	41					14																	88946237		2201	4298	6499	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946237C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1538G>A	14.37:g.88946237C>T	ENSP00000452414:p.Ser513Asn					PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1822	-			513						Missense_Mutation	SNP	ENST00000556564.1	37	c.1538G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710303	0.03230	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71222	-0.55;-0.55	5.35	-10.7	0.00240	.	0.392170	0.29987	N	0.010681	T	0.21674	0.0522	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	10	0.02654	T	1	.	8.8099	0.34961	0.0:0.2595:0.4736:0.2669	.	513	Q16825	PTN21_HUMAN	N	513	ENSP00000330276:S513N;ENSP00000452414:S513N	ENSP00000330276:S513N	S	-	2	0	PTPN21	88015990	0.516000	0.26218	0.000000	0.03702	0.349000	0.29174	0.820000	0.27323	-2.497000	0.00513	-0.311000	0.09066	AGC		0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			101	417	0	0	0	1	0	101	417					T	88946237	C	T	88946237	3	4	79	1	0	0	0	0	1	0	0	0	12836	797	28	2	2014	2	PTPN21	14	88946237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	609	88946237	18403303	14872	25189											
PTPN21	11099	broad.mit.edu	37	chr14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatctcctgctgcagctgaGaaactgaaggcacataaaac	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	109	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGCTGAGAAACTGAAGG	0.403																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(325-327)tCt>tAt		protein tyrosine phosphatase, non-receptor type 21							106	96	100					14																	88983460		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983460G>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.326C>A	14.37:g.88983460G>T	ENSP00000452414:p.Ser109Tyr					PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|PTPN21_ENST00000554628.1_5'UTR	p.S109Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	610	-			109			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.326C>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984700	0.35036	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	3.96	0.45880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.361101	0.26307	N	0.025124	D	0.85609	0.5736	M	0.85777	2.775	0.09310	N	0.999997	B;P	0.48016	0.125;0.904	B;P	0.54312	0.094;0.748	T	0.79266	-0.1874	10	0.87932	D	0	.	12.6804	0.56918	0.1189:0.0:0.8811:0.0	.	109;109	G3V3S6;Q16825	.;PTN21_HUMAN	Y	109	ENSP00000330276:S109Y;ENSP00000452414:S109Y;ENSP00000451401:S109Y	ENSP00000330276:S109Y	S	-	2	0	PTPN21	88053213	0.987000	0.35691	0.012000	0.15200	0.253000	0.25986	3.331000	0.52075	0.796000	0.33947	0.561000	0.74099	TCT		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			63	275	1	0	7.73544e-29	1	9.01949e-29	63	275					T	88983460	G	T	88983460	3	4	79	1	0	0	0	0	1	0	0	0	12836	942	33	3	3266	3	PTPN21	14	88983460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37223	88983460	18366080	14873	25190											
PTPN21	11099	broad.mit.edu	37	chr14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagaaactgaaggcAcataaaacaccactccaaaa	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	105	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTGAAGGCACATAAAACAC	0.403																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(313-315)gTg>gCg		protein tyrosine phosphatase, non-receptor type 21							113	102	106					14																	88983472		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983472A>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.314T>C	14.37:g.88983472A>G	ENSP00000452414:p.Val105Ala					PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|PTPN21_ENST00000554628.1_5'UTR	p.V105A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	598	-			105			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.314T>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417638	0.62622	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78364	-1.17;-1.17;-1.17	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.076746	0.51477	D	0.000088	T	0.80253	0.4589	L	0.39633	1.23	0.44627	D	0.997602	P;P	0.51537	0.855;0.946	P;P	0.54060	0.615;0.741	T	0.82333	-0.0509	10	0.72032	D	0.01	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	105;105	G3V3S6;Q16825	.;PTN21_HUMAN	A	105	ENSP00000330276:V105A;ENSP00000452414:V105A;ENSP00000451401:V105A	ENSP00000330276:V105A	V	-	2	0	PTPN21	88053225	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	9.339000	0.96797	2.200000	0.70718	0.459000	0.35465	GTG		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			64	284	0	0	0	1	0	64	284					G	88983472	A	G	88983472	3	3	79	1	0	0	0	0	1	0	0	0	12836	159	6	4	3278	4	PTPN21	14	88983472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	88983472	18366068	14874	25191											
ZC3H14	79882	broad.mit.edu	37	chr14	89038501	89038501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacttgccattcctagCgcgagacctgaaaaaagaga	8	13	0	3	rs376580827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000251038.5	+	5	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000359301.3_Silent_p.S87S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	121						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(361-363)agC>agT		zinc finger CCCH-type containing 14		C	,,,,	0,4406		0,0,2203	104	101	102		363,363,363,363,261	2.8	0.7	14		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZC3H14	NM_001160103.1,NM_001160104.1,NM_024824.4,NM_207660.3,NM_207661.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	121/736,121/731,121/737,121/580,87/572	89038501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89038501C>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.363C>T	14.37:g.89038501C>T						ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000555755.1_Silent_p.S121S	p.S121S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			5	588	+			121					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.363C>T	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574602	0.03882	0.0	1.16E-4	ENSG00000100722	ENST00000556000	.	.	.	5.66	2.84	0.33178	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	-1.469	10.1704	0.42906	0.0:0.734:0.0:0.266	.	.	.	.	V	37	.	.	A	+	2	0	ZC3H14	88108254	0.187000	0.23238	0.682000	0.30024	0.019000	0.09904	0.223000	0.17719	0.323000	0.23307	0.563000	0.77884	GCG		0.488	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		83	340	0	0	0	1	0	83	340					T	89038501	C	T	89038501	2	4	79	1	0	0	0	0	0	0	0	1	17619	767	27	1		1	ZC3H14	14	89038501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55029	89038501	18311039	14875	25192											
ZC3H14	79882	broad.mit.edu	37	chr14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaacagcagcagaataGtattcatgctgccaagcagc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000251038.5	+	6	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	240						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(718-720)aGt>aAt		zinc finger CCCH-type containing 14							122	121	121					14																	89039209		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039209G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.719G>A	14.37:g.89039209G>A	ENSP00000251038:p.Ser240Asn					ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N	p.S240N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			6	944	+			240					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.719G>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728675|1.728675	0.30593|0.30593	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	3.1|3.1	0.35709|0.35709	.|.	0.147633|.	0.64402|.	D|.	0.000009|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.10685|0.10685	0.025|0.025	0.32355|0.32355	N|N	0.557954|0.557954	B;B;B;B;B;B|.	0.14012|.	0.001;0.003;0.001;0.001;0.009;0.001|.	B;B;B;B;B;B|.	0.16722|.	0.003;0.011;0.003;0.001;0.016;0.002|.	T|T	0.36237|0.36237	-0.9756|-0.9756	9|5	0.11794|.	T|.	0.64|.	-8.3463|-8.3463	11.4889|11.4889	0.50369|0.50369	0.2368:0.0:0.7632:0.0|0.2368:0.0:0.7632:0.0	.|.	240;221;240;240;240;240|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	240;240;240;206;240;221;240;85;206;240;240;206|156	.|.	ENSP00000251038:S240N|.	S|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88108962|88108962	0.965000|0.965000	0.33210|0.33210	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	0.683000|0.683000	0.25349|0.25349	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.408	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		94	427	0	0	0	1	0	94	427					A	89039209	G	A	89039209	3	1	79	1	0	0	0	0	1	0	0	0	17619	1029	36	2	741	2	ZC3H14	14	89039209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	708	89039209	18310331	14876	25193											
ZC3H14	79882	broad.mit.edu	37	chr14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagattctgtagaaaaaaAtcaaggtaataacttaaatg	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000251038.5	+	9	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	425						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1273-1275)aAt>aGt		zinc finger CCCH-type containing 14							47	51	49					14																	89044479		2201	4299	6500	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044479A>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1274A>G	14.37:g.89044479A>G	ENSP00000251038:p.Asn425Ser					ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S	p.N425S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			9	1499	+			425					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1274A>G	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.653|0.653	-0.808587|-0.808587	0.02819|0.02819	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.08118|0.08118	0|0	0.24646|0.24646	N|N	0.993545|0.993545	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.30880|0.30880	-0.9963|-0.9963	5|9	.|0.09590	.|T	.|0.72	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	V|S	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425S	I|N	+|+	1|2	0|0	ZC3H14|ZC3H14	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT		0.343	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		55	257	0	0	0	1	0	55	257					G	89044479	A	G	89044479	3	3	79	1	0	0	0	0	1	0	0	0	17619	101	4	4	1308	4	ZC3H14	14	89044479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5270	89044479	18305061	14877	25194											
EML5	161436	broad.mit.edu	37	chr14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgtaacaagactgattCctgaatgagatacacaggca	8	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000380664.5	-	40	5701	c.5702G>A	c.(5701-5703)gGa>gAa	p.G1901E	EML5_ENST00000554922.1_Missense_Mutation_p.G1909E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1901						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACTGATTCCTGAATGAGA	0.393																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5725-5727)gGa>gAa		echinoderm microtubule associated protein like 5							88	84	86					14																	89083140		1931	4136	6067	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083140C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5702G>A	14.37:g.89083140C>T	ENSP00000370039:p.Gly1901Glu					EML5_ENST00000380664.5_Missense_Mutation_p.G1901E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E	p.G1909E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	5974	-			1901					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5726G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969264	0.92855	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.22134	1.97;1.97;1.97	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48647	-0.9017	10	0.48119	T	0.1	-16.733	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1901	Q05BV3	EMAL5_HUMAN	E	1909;1863;1901	ENSP00000451998:G1909E;ENSP00000298315:G1863E;ENSP00000370039:G1901E	ENSP00000298315:G1863E	G	-	2	0	EML5	88152893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GGA		0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			49	185	0	0	0	1	0	49	185					T	89083140	C	T	89083140	3	4	79	1	0	0	0	0	1	0	0	0	5118	855	30	2	219	2	EML5	14	89083140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38661	89083140	18266400	14878	25195											
EML5	161436	broad.mit.edu	37	chr14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgtgaacaaagtgtaatcGaatactatttcctggagccc	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000380664.5	-	13	2031	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000554922.1_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	678						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTGTAATCGAATACTATTT	0.343																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2032-2034)Cga>Tga		echinoderm microtubule associated protein like 5							146	131	135					14																	89171223		1813	4074	5887	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89171223G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2032C>T	14.37:g.89171223G>A	ENSP00000370039:p.Arg678*					EML5_ENST00000380664.5_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*	p.R678*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			13	2280	-			678					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.2032C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	42	9.219840	0.99105	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.04	5.04	0.67666	.	0.243309	0.32624	N	0.005856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.7002	13.3525	0.60609	0.0:0.0:0.8037:0.1963	.	.	.	.	X	678	.	ENSP00000298315:R678X	R	-	1	2	EML5	88240976	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.033000	0.57282	2.615000	0.88500	0.557000	0.71058	CGA		0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			36	205	0	0	0	1	0	36	205					A	89171223	G	A	89171223	4	1	79	1	0	0	0	0	0	1	0	0	5118	1066	37	1	4025	1	EML5	14	89171223	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88083	89171223	18178317	14879	25196											
TTC8	123016	broad.mit.edu	37	chr14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagatcctgaattgccaGtgcatcaggtaaagaaaggt	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000345383.5_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000354441.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	46			Missing (in RP51).		axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTGCCAGTGCATCAGGT	0.343																																						ENST00000380656.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(136-138)Gtg>Atg		tetratricopeptide repeat domain 8							113	112	112					14																	89300058		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89300058G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000380656.2:c.136G>A	14.37:g.89300058G>A	ENSP00000370031:p.Val46Met					TTC8_ENST00000345383.5_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000354441.6_Intron	p.V46M	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN			2	182	+			46		Missing (in RP51).			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000380656.2	37	c.136G>A	CCDS32137.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251971	0.22880	.	.	ENSG00000165533	ENST00000380656	T	0.77229	-1.08	5.79	1.82	0.25136	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.18873	N	0.999988	B	0.15473	0.013	B	0.11329	0.006	T	0.37957	-0.9683	9	0.26408	T	0.33	.	4.7346	0.12982	0.2461:0.0:0.6041:0.1498	.	46	Q8TAM2-4	.	M	46	ENSP00000370031:V46M	ENSP00000370031:V46M	V	+	1	0	TTC8	88369811	0.141000	0.22595	0.160000	0.22671	0.926000	0.56050	-0.107000	0.10873	0.346000	0.23899	0.561000	0.74099	GTG		0.343	TTC8-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410866.1	NM_144596		38	235	0	0	0	1	0	38	235					A	89300058	G	A	89300058	3	1	79	1	0	0	0	0	1	0	0	0	16768	1029	36	2	142	2	TTC8	14	89300058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128835	89300058	18049482	14880	25197											
TTC8	123016	broad.mit.edu	37	chr14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctatcagaacacccagAaccgcctacacagcccgccc	7	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000345383.5	+	4	483	c.399A>C	c.(397-399)agA>agC	p.R133S	Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000338104.6_Missense_Mutation_p.R133S|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	143					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(397-399)agA>agC		tetratricopeptide repeat domain 8							50	57	54					14																	89307480		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307480A>C	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.399A>C	14.37:g.89307480A>C	ENSP00000339486:p.Arg133Ser					TTC8_ENST00000345383.5_Missense_Mutation_p.R133S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000354441.6_Intron	p.R133S			Q8TAM2	TTC8_HUMAN			4	451	+			143					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.399A>C	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.90|19.90|19.90	3.912562|3.912562|3.912562	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000343648|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	.|.|T;T;T;T	.|.|0.80909	.|.|-1.3;-1.38;-1.43;-1.29	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.88366|0.88366|0.88366	0.6417|0.6417|0.6417	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.993;1.0;0.999;1.0;0.998	.|.|D;D;D;D;D	.|.|0.87578	.|.|0.977;0.998;0.976;0.998;0.976	D|D|D	0.86104|0.86104|0.86104	0.1558|0.1558|0.1558	5|6|10	.|0.66056|0.62326	.|D|D	.|0.02|0.03	-19.6436|-19.6436|-19.6436	9.9788|9.9788|9.9788	0.41800|0.41800|0.41800	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.|.	.|.|143;133;143;133;143	.|.|Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	.|.|TTC8_HUMAN;.;.;.;.	A|H|S	123|185|133;133;133;143;133	.|.|ENSP00000339486:R133S;ENSP00000298324:R133S;ENSP00000337653:R133S;ENSP00000370031:R143S	.|ENSP00000343586:N185H|ENSP00000337653:R133S	E|N|R	+|+|+	2|1|3	0|0|2	TTC8|TTC8|TTC8	88377233|88377233|88377233	0.925000|0.925000|0.925000	0.31364|0.31364|0.31364	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	0.162000|0.162000|0.162000	0.16501|0.16501|0.16501	-0.385000|-0.385000|-0.385000	0.07833|0.07833|0.07833	-0.371000|-0.371000|-0.371000	0.07208|0.07208|0.07208	GAA|AAC|AGA		0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		29	317	0	0	0	1	0	29	317					C	89307480	A	C	89307480	3	2	79	1	0	0	0	0	1	0	0	0	16768	243	9	4	447	4	TTC8	14	89307480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	89307480	18042060	14881	25198											
TTC8	123016	broad.mit.edu	37	chr14	89343705	89343705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatttccagaccatgtggAcacacaacatttaattaaac	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89343705A>G	ENST00000345383.5	+	14	1553	c.1469A>G	c.(1468-1470)gAc>gGc	p.D490G	TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000338104.6_Missense_Mutation_p.D516G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	526					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GACCATGTGGACACACAACAT	0.398																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1546-1548)gAc>gGc		tetratricopeptide repeat domain 8							109	93	98					14																	89343705		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89343705A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1469A>G	14.37:g.89343705A>G	ENSP00000339486:p.Asp490Gly					TTC8_ENST00000345383.5_Missense_Mutation_p.D490G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G	p.D516G			Q8TAM2	TTC8_HUMAN			15	1599	+			526					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1547A>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334667|3.334667	0.60853|0.60853	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.78595|.	0.58;0.58;0.58;0.58;0.58;-1.19;-1.19|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.046399|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;B;P;B;B|.	0.59767|.	0.986;0.006;0.952;0.036;0.036|.	P;B;P;B;B|.	0.57846|.	0.828;0.02;0.612;0.044;0.073|.	T|T	0.74426|0.74426	-0.3669|-0.3669	10|5	0.46703|.	T|.	0.11|.	-23.1343|-23.1343	15.7397|15.7397	0.77882|0.77882	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	235;261;526;470;500|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	G|A	490;261;460;516;235;500;302|422	ENSP00000339486:D490G;ENSP00000445067:D261G;ENSP00000298324:D460G;ENSP00000337653:D516G;ENSP00000346427:D235G;ENSP00000370031:D500G;ENSP00000351439:D302G|.	ENSP00000337653:D516G|.	D|T	+|+	2|1	0|0	TTC8|TTC8	88413458|88413458	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.973000|0.973000	0.67179|0.67179	8.532000|8.532000	0.90613|0.90613	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAC|ACA		0.398	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		7	345	0	0	0	1	0	7	345					G	89343705	A	G	89343705	3	3	79	1	0	0	0	0	1	0	0	0	16768	275	10	4	1557	4	TTC8	14	89343705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36225	89343705	18005835	14882	25199											
C14orf143	90141	broad.mit.edu	37	chr14	90263636	90263636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catattcaaagtctctaaagCtgacgtgaccatctgaatct	6	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90263636C>A	ENST00000316738.7	-	6	471	c.443G>T	c.(442-444)aGc>aTc	p.S148I	EFCAB11_ENST00000555872.1_Missense_Mutation_p.S124I|EFCAB11_ENST00000556609.1_Missense_Mutation_p.S100I|RP11-33N16.3_ENST00000555070.1_RNA	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						GTCTCTAAAGCTGACGTGACC	0.388																																						ENST00000316738.7																			0				large_intestine(1)|lung(1)	2						c.(442-444)aGc>aTc		EF-hand calcium binding domain 11							167	144	152					14																	90263636		2203	4300	6503	SO:0001583	missense	90141						calcium ion binding	g.chr14:90263636C>A	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.443G>T	14.37:g.90263636C>A	ENSP00000326267:p.Ser148Ile					EFCAB11_ENST00000556609.1_Missense_Mutation_p.S100I|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Missense_Mutation_p.S124I	p.S148I	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN			6	471	-			148			EF-hand 3.		B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	c.443G>T	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311108	0.81358	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	T;T;T	0.77229	-1.08;-1.08;-1.08	6.03	6.03	0.97812	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.89030	3	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.962	D	0.90764	0.4667	10	0.87932	D	0	-14.5587	15.0707	0.72034	0.0:0.8588:0.1411:0.0	.	148;124	Q9BUY7;Q9BUY7-2	EFC11_HUMAN;.	I	148;124;100	ENSP00000326267:S148I;ENSP00000452320:S124I;ENSP00000452335:S100I	ENSP00000326267:S148I	S	-	2	0	EFCAB11	89333389	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.800000	0.47900	2.861000	0.98227	0.655000	0.94253	AGC		0.388	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231		20	315	1	0	9.95505e-16	1	1.08957e-15	20	315					A	90263636	C	A	90263636	3	1	79	1	0	0	0	0	1	0	0	0	1753	797	28	3	52	3	C14orf143	14	90263636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	919931	90263636	17085904	14883	25200											
TDP1	55775	broad.mit.edu	37	chr14	90485729	90485729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgatgatccgctcctaCgagctcggggtccttttcct	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	537					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1609-1611)taC>taT	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							119	107	111					14																	90485729		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90485729C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1611C>T	14.37:g.90485729C>T						TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	15	1861	+		all_cancers(154;0.185)	537					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.1611C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844518	0.16963	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.01	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4071	14.5368	0.67966	0.0:0.1961:0.0:0.8039	.	.	.	.	X	178	.	.	R	+	1	2	TDP1	89555482	0.015000	0.18098	0.891000	0.34965	0.962000	0.63368	-1.226000	0.02953	-1.082000	0.03101	-1.202000	0.01658	CGA		0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		34	162	0	0	0	1	0	34	162					T	90485729	C	T	90485729	2	4	79	1	0	0	0	0	0	0	0	1	15780	547	19	1		1	TDP1	14	90485729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222093	90485729	16863811	14884	25201											
KCNK13	56659	broad.mit.edu	37	chr14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggatgacaactccggCgacagtaggaggaaaaatct	13	7	1	1	rs541534783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	119					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21508	0.0		0.0	False		,,,				2504	0.0					ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(355-357)gCg>gTg		potassium channel, subfamily K, member 13							94	101	99					14																	90650476		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650476C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.356C>T	14.37:g.90650476C>T	ENSP00000282146:p.Ala119Val						p.A119V	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	797	+		all_cancers(154;0.186)	119					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.356C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105386	0.01828	.	.	ENSG00000152315	ENST00000282146	T	0.21031	2.03	5.31	4.41	0.53225	Ion transport 2 (1);	0.178360	0.27284	N	0.020073	T	0.12518	0.0304	N	0.12443	0.215	0.58432	D	0.999999	B	0.15473	0.013	B	0.15484	0.013	T	0.11155	-1.0599	10	0.23891	T	0.37	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	119	Q9HB14	KCNKD_HUMAN	V	119	ENSP00000282146:A119V	ENSP00000282146:A119V	A	+	2	0	KCNK13	89720229	0.882000	0.30256	0.105000	0.21289	0.026000	0.11368	1.759000	0.38420	2.476000	0.83614	0.655000	0.94253	GCG		0.483	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		103	415	0	0	0	1	0	103	415					T	90650476	C	T	90650476	3	4	79	1	0	0	0	0	1	0	0	0	8091	768	27	1	362	1	KCNK13	14	90650476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164747	90650476	16699064	14885	25202											
KCNK13	56659	broad.mit.edu	37	chr14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccatcctcatctcttgCtgcgcctcagccatgtacac	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	210					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(628-630)tgC>tgA		potassium channel, subfamily K, member 13							167	141	149					14																	90650750		2203	4300	6503	SO:0001587	stop_gained	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650750C>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.630C>A	14.37:g.90650750C>A	ENSP00000282146:p.Cys210*						p.C210*	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1071	+		all_cancers(154;0.186)	210					B5TJL8|Q96E79	Nonsense_Mutation	SNP	ENST00000282146.4	37	c.630C>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716592	0.96830	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.41	0.53225	.	0.000000	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.074	0.36511	0.0:0.7791:0.0:0.2209	.	.	.	.	X	210	.	ENSP00000282146:C210X	C	+	3	2	KCNK13	89720503	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	0.957000	0.29215	2.476000	0.83614	0.655000	0.94253	TGC		0.567	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		146	744	1	0	8.66588e-61	1	1.0903e-60	146	744					A	90650750	C	A	90650750	4	1	79	1	0	0	0	0	0	1	0	0	8091	805	28	3	636	3	KCNK13	14	90650750	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	90650750	16698790	14886	25203											
KCNK13	56659	broad.mit.edu	37	chr14	90651173	90651173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgatctccatgaaggaCttgctggcagccaacaaggc	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(1051-1053)gaC>gaT		potassium channel, subfamily K, member 13							46	47	47					14																	90651173		2203	4299	6502	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651173C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1053C>T	14.37:g.90651173C>T							p.D351D	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1494	+		all_cancers(154;0.186)	351					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.1053C>T	CCDS9889.1																																																																																				0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		72	359	0	0	0	1	0	72	359					T	90651173	C	T	90651173	2	4	79	1	0	0	0	0	0	0	0	1	8091	564	20	2		2	KCNK13	14	90651173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	90651173	16698367	14887	25204											
PSMC1	5700	broad.mit.edu	37	chr14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtgaaagttatcatgGccacaaaccgaatagaaact	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388																																						ENST00000261303.8																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(988-990)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, ATPase, 1							138	137	138					14																	90735847		2203	4298	6501	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90735847G>A	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.988G>A	14.37:g.90735847G>A	ENSP00000261303:p.Ala330Thr					PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	p.A330T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1091	+		all_cancers(154;0.142)	330					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.988G>A	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717645	0.89205	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94576	-3.46;-3.46	4.92	4.01	0.46588	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.148921	0.64402	D	0.000012	D	0.95658	0.8588	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95992	0.8986	10	0.87932	D	0	-16.7283	14.7381	0.69430	0.0:0.0:0.854:0.146	.	330	P62191	PRS4_HUMAN	T	330;257	ENSP00000261303:A330T;ENSP00000445147:A257T	ENSP00000261303:A330T	A	+	1	0	PSMC1	89805600	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.830000	0.99415	1.166000	0.42689	0.563000	0.77884	GCC		0.388	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		68	487	0	0	0	1	0	68	487					A	90735847	G	A	90735847	3	1	79	1	0	0	0	0	1	0	0	0	12732	1203	42	2	1022	2	PSMC1	14	90735847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84674	90735847	16613693	14888	25205											
C14orf102	55051	broad.mit.edu	37	chr14	90754819	90754819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtggaatctcagcaggCtcgtgtgcatcagtgtgatg	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90754819C>A	ENST00000354366.3	-	11	3132	c.2900G>T	c.(2899-2901)aGc>aTc	p.S967I	NRDE2_ENST00000357904.3_Missense_Mutation_p.S736I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	967																	TCTCAGCAGGCTCGTGTGCAT	0.542																																						ENST00000354366.3																			0											c.(2899-2901)aGc>aTc		NRDE-2, necessary for RNA interference, domain containing							90	87	88					14																	90754819		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90754819C>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2900G>T	14.37:g.90754819C>A	ENSP00000346335:p.Ser967Ile					NRDE2_ENST00000357904.3_Missense_Mutation_p.S736I	p.S967I	NM_017970.3	NP_060440.2					11	3132	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2900G>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333286	0.11013	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34275	1.37;1.37	4.85	1.74	0.24563	.	0.317760	0.34338	N	0.004059	T	0.25306	0.0615	M	0.63428	1.95	0.27043	N	0.96398	B;P	0.39282	0.363;0.666	B;B	0.30495	0.037;0.116	T	0.14727	-1.0462	10	0.38643	T	0.18	-10.1793	4.2529	0.10703	0.0:0.495:0.1868:0.3183	.	736;967	E9PBK4;Q9H7Z3	.;CN102_HUMAN	I	967;736	ENSP00000346335:S967I;ENSP00000350579:S736I	ENSP00000346335:S967I	S	-	2	0	C14orf102	89824572	0.383000	0.25156	0.131000	0.22000	0.098000	0.18820	1.294000	0.33365	0.624000	0.30286	0.655000	0.94253	AGC		0.542	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		66	297	1	0	8.3131e-28	1	9.64569e-28	66	297					A	90754819	C	A	90754819	3	1	79	1	0	0	0	0	1	0	0	0	1740	797	28	3	610	3	C14orf102	14	90754819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18972	90754819	16594721	14889	25206											
TTC7B	145567	broad.mit.edu	37	chr14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcttccccggagctcagCaatctggccgcgcatgtaga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000328459.6	-	19	2339	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGCTCAGCAATCTGGCCG	0.602																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2269-2271)Gct>Tct		tetratricopeptide repeat domain 7B							102	86	91					14																	91044542		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91044542C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2218G>T	14.37:g.91044542C>A	ENSP00000336127:p.Ala740Ser					TTC7B_ENST00000328459.6_Missense_Mutation_p.A740S|TTC7B_ENST00000554654.1_5'UTR	p.A757S			Q86TV6	TTC7B_HUMAN			20	2390	-		Melanoma(154;0.222)	740					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2269G>T	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.383|9.383	1.073633|1.073633	0.20147|0.20147	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.48|5.48	3.44|3.44	0.39384|0.39384	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.184815|.	0.46758|.	D|.	0.000263|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.17268|.	0.021;0.0|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.67577|0.67577	-0.5635|-0.5635	10|5	0.22109|.	T|.	0.4|.	-2.2328|-2.2328	12.6405|12.6405	0.56707|0.56707	0.155:0.7368:0.1082:0.0|0.155:0.7368:0.1082:0.0	.|.	740;757|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|F	638;757;740;227|167	ENSP00000349564:A757S;ENSP00000336127:A740S;ENSP00000451440:A227S|.	ENSP00000336127:A740S|.	A|C	-|-	1|2	0|0	TTC7B|TTC7B	90114295|90114295	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.177000|0.177000	0.22998|0.22998	4.822000|4.822000	0.62686|0.62686	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.602	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			33	121	1	0	2.81731e-10	1	2.98404e-10	33	121					A	91044542	C	A	91044542	3	1	79	1	0	0	0	0	1	0	0	0	16767	710	25	3	321	3	TTC7B	14	91044542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289723	91044542	16304998	14890	25207											
TTC7B	145567	broad.mit.edu	37	chr14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctttctcataacaggTgatgacatcctgttcccggt	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000328459.6	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	174										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCATAACAGGTGATGACATCC	0.428																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(520-522)Acc>Ccc		tetratricopeptide repeat domain 7B							152	135	141					14																	91211192		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91211192T>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.520A>C	14.37:g.91211192T>G	ENSP00000336127:p.Thr174Pro					TTC7B_ENST00000328459.6_Missense_Mutation_p.T174P	p.T174P			Q86TV6	TTC7B_HUMAN			4	641	-		Melanoma(154;0.222)	174					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.520A>C	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493788	0.84962	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37752	1.86;1.18	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.52573	1.65	0.58432	D	0.999998	P	0.43094	0.799	B	0.36504	0.226	T	0.08411	-1.0723	10	0.29301	T	0.29	-31.152	14.9498	0.71064	0.0:0.0:0.0:1.0	.	174	Q86TV6	TTC7B_HUMAN	P	72;174;174;72	ENSP00000349564:T174P;ENSP00000336127:T174P	ENSP00000336127:T174P	T	-	1	0	TTC7B	90280945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.231000	0.72958	0.460000	0.39030	ACC		0.428	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			22	486	0	0	0	1	0	22	486					G	91211192	T	G	91211192	3	3	79	1	0	0	0	0	1	0	0	0	16767	1696	59	4	2079	4	TTC7B	14	91211192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166650	91211192	16138348	14891	25208											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338562	91338562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcactggaactgctgcgCgtctcggtactggtgctagt	12	12	2	0	rs144832163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91338562C>T	ENST00000261991.3	-	17	2438	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	RPS6KA5_ENST00000536315.2_Silent_p.T676T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	755					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACTGCTGCGCGTCTCGGTAC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		18508	0.0		0.002	False		,,,				2504	0.0					ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2263-2265)acG>acA		ribosomal protein S6 kinase, 90kDa, polypeptide 5		C		1,4405	2.1+/-5.4	0,1,2202	144	125	132		2265	-10.2	0.7	14	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RPS6KA5	NM_004755.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		755/803	91338562	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338562C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2265G>A	14.37:g.91338562C>T						RPS6KA5_ENST00000536315.2_Silent_p.T676T	p.T755T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2438	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	755					O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.2265G>A	CCDS9893.1																																																																																				0.473	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		10	349	0	0	0	1	0	10	349					T	91338562	C	T	91338562	2	4	79	1	0	0	0	0	0	0	0	1	13704	755	27	1		1	RPS6KA5	14	91338562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127370	91338562	16010978	14892	25209											
RPS6KA5	9252	broad.mit.edu	37	chr14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacctcaggtttcagatccCtgtgcaccactccaacatca	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	543	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTTCAGATCCCTGTGCACCAC	0.438																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1627-1629)aGg>aTg		ribosomal protein S6 kinase, 90kDa, polypeptide 5							135	115	122					14																	91360773		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360773C>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1628G>T	14.37:g.91360773C>A	ENSP00000261991:p.Arg543Met					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1801	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	543			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1628G>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979109	0.74360	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	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	0.86719	0.6000	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	543;543	O75582-2;O75582	.;KS6A5_HUMAN	M	543;464;543	ENSP00000261991:R543M;ENSP00000442803:R464M;ENSP00000402787:R543M	ENSP00000261991:R543M	R	-	2	0	RPS6KA5	90430526	1.000000	0.71417	0.987000	0.45799	0.533000	0.34776	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	AGG		0.438	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		22	420	1	0	1.5548e-18	1	1.72663e-18	22	420					A	91360773	C	A	91360773	3	1	79	1	0	0	0	0	1	0	0	0	13704	681	24	3	806	3	RPS6KA5	14	91360773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	91360773	15988767	14893	25210											
RPS6KA5	9252	broad.mit.edu	37	chr14	91526692	91526692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagtccgcagctcgtgCttgacagtgaggagctgctc	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000536315.2_5'Flank|RPS6KA5_ENST00000418736.2_Silent_p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	29					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCAGCTCGTGCTTGACAGTGA	0.761																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(85-87)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							9	10	9					14																	91526692		2151	4181	6332	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91526692C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.87G>A	14.37:g.91526692C>T						RPS6KA5_ENST00000418736.2_Silent_p.K29K	p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	1	260	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	29					O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.87G>A	CCDS9893.1																																																																																				0.761	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		22	58	0	0	0	1	0	22	58					T	91526692	C	T	91526692	2	4	79	1	0	0	0	0	0	0	0	1	13704	796	28	2		2	RPS6KA5	14	91526692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165919	91526692	15822848	14894	25211											
CCDC88C	440193	broad.mit.edu	37	chr14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcatctgtgcggtcaaggCtgcctctgtgtggggagcct	16	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1496					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4486-4488)aGc>aTc		coiled-coil domain containing 88C							47	52	51					14																	91749816		2053	4177	6230	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91749816C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4487G>T	14.37:g.91749816C>A	ENSP00000374507:p.Ser1496Ile					CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	p.S1496I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			26	4573	-		all_cancers(154;0.0468)	1496					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4487G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823460	0.32237	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	1.95;0.49	5.67	4.77	0.60923	.	0.656995	0.13910	U	0.354299	T	0.58452	0.2123	M	0.64997	1.995	0.32828	D	0.503644	P;P	0.49783	0.716;0.928	B;P	0.46253	0.312;0.509	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.6755	15.2156	0.73264	0.0:0.8605:0.1395:0.0	.	1496;20	Q9P219;Q9P219-2	DAPLE_HUMAN;.	I	1496;20;20	ENSP00000374507:S1496I;ENSP00000330332:S20I	ENSP00000330332:S20I	S	-	2	0	CCDC88C	90819569	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.576000	0.46033	1.377000	0.46286	0.655000	0.94253	AGC		0.607	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		11	112	1	0	0.000673444	1	0.000681208	11	112					A	91749816	C	A	91749816	3	1	79	1	0	0	0	0	1	0	0	0	2872	797	28	3	1619	3	CCDC88C	14	91749816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223124	91749816	15599724	14895	25212											
CCDC88C	440193	broad.mit.edu	37	chr14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgactaaggctttgGctccaatccagtggttcttc	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1408					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4222-4224)gCc>gAc		coiled-coil domain containing 88C							212	220	217					14																	91755667		1957	4145	6102	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91755667G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4223C>A	14.37:g.91755667G>T	ENSP00000374507:p.Ala1408Asp						p.A1408D	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			25	4309	-		all_cancers(154;0.0468)	1408					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4223C>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751333	0.89753	.	.	ENSG00000015133	ENST00000389857	T	0.62105	0.05	5.38	5.38	0.77491	.	0.310015	0.22674	U	0.057025	T	0.79281	0.4419	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80259	-0.1457	10	0.59425	D	0.04	-32.1102	19.1411	0.93446	0.0:0.0:1.0:0.0	.	1408	Q9P219	DAPLE_HUMAN	D	1408	ENSP00000374507:A1408D	ENSP00000374507:A1408D	A	-	2	0	CCDC88C	90825420	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.445000	0.90326	2.507000	0.84556	0.561000	0.74099	GCC		0.537	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		198	960	1	0	3.54725e-78	1	4.52998e-78	198	960					T	91755667	G	T	91755667	3	4	79	1	0	0	0	0	1	0	0	0	2872	1203	42	3	1887	3	CCDC88C	14	91755667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5851	91755667	15593873	14896	25213											
CCDC88C	440193	broad.mit.edu	37	chr14	91763825	91763825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcagctggtggtgcaGgaaattgaccctggaggagg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	ENST00000389857.6	-	22	3876	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1264					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGTGCAGGAAATTGACC	0.587																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3790-3792)Ctg>Atg		coiled-coil domain containing 88C							34	35	35					14																	91763825		2084	4177	6261	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91763825G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3790C>A	14.37:g.91763825G>T	ENSP00000374507:p.Leu1264Met						p.L1264M	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			22	3876	-		all_cancers(154;0.0468)	1264					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3790C>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426943	0.43122	.	.	ENSG00000015133	ENST00000389857	T	0.15139	2.45	5.34	5.34	0.76211	.	0.234286	0.22159	U	0.063819	T	0.16727	0.0402	L	0.48362	1.52	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.01541	-1.1329	10	0.49607	T	0.09	-18.6969	10.2314	0.43258	0.1216:0.0:0.8784:0.0	.	1264	Q9P219	DAPLE_HUMAN	M	1264	ENSP00000374507:L1264M	ENSP00000374507:L1264M	L	-	1	2	CCDC88C	90833578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.864000	0.39469	2.513000	0.84729	0.609000	0.83330	CTG		0.587	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		7	18	1	0	8.12818e-05	1	8.2724e-05	7	18					T	91763825	G	T	91763825	3	4	79	1	0	0	0	0	1	0	0	0	2872	991	35	3	2332	3	CCDC88C	14	91763825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8158	91763825	15585715	14897	25214											
CCDC88C	440193	broad.mit.edu	37	chr14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcttcagcatgtcacCgtgcctgttggagggaagca	13	11	2	0	rs183646530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1214					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617													C|||	5	0.000998403	0.0	0.0029	5008	,	,		18277	0.001		0.002	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3640-3642)Ggt>Agt		coiled-coil domain containing 88C		C	SER/GLY	0,4202		0,0,2101	21	24	23		3640	-4.3	0	14		23	11,8453		0,11,4221	yes	missense	CCDC88C	NM_001080414.3	56	0,11,6322	TT,TC,CC		0.13,0.0,0.0868	benign	1214/2029	91766410	11,12655	2101	4232	6333	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91766410C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3640G>A	14.37:g.91766410C>T	ENSP00000374507:p.Gly1214Ser						p.G1214S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			21	3726	-		all_cancers(154;0.0468)	1214					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3640G>A	CCDS45151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.112	0.388845	0.11581	0.0	0.0013	ENSG00000015133	ENST00000389857	T	0.12984	2.63	5.24	-4.35	0.03656	.	1.052770	0.07579	N	0.919860	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40117	-0.9580	10	0.36615	T	0.2	-1.4689	13.216	0.59861	0.0:0.2191:0.0:0.7809	.	1214	Q9P219	DAPLE_HUMAN	S	1214	ENSP00000374507:G1214S	ENSP00000374507:G1214S	G	-	1	0	CCDC88C	90836163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.734000	0.04843	-1.058000	0.02302	GGT		0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		8	58	0	0	0	1	0	8	58					T	91766410	C	T	91766410	3	4	79	1	0	0	0	0	1	0	0	0	2872	652	23	1	2486	1	CCDC88C	14	91766410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2585	91766410	15583130	14898	25215											
CCDC88C	440193	broad.mit.edu	37	chr14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcgtgtactgcgCggtgagcgctgcgctctggg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1134					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3400-3402)Gcg>Acg		coiled-coil domain containing 88C							65	71	69					14																	91770280		2144	4243	6387	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770280C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3400G>A	14.37:g.91770280C>T	ENSP00000374507:p.Ala1134Thr						p.A1134T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			20	3486	-		all_cancers(154;0.0468)	1134					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3400G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307042	0.60305	.	.	ENSG00000015133	ENST00000389857	T	0.17054	2.3	5.52	3.69	0.42338	.	0.000000	0.48286	U	0.000192	T	0.22513	0.0543	L	0.46741	1.465	0.80722	D	1	D	0.61080	0.989	P	0.53518	0.728	T	0.01276	-1.1398	10	0.33141	T	0.24	-12.7778	8.6863	0.34240	0.2697:0.6613:0.0:0.069	.	1134	Q9P219	DAPLE_HUMAN	T	1134	ENSP00000374507:A1134T	ENSP00000374507:A1134T	A	-	1	0	CCDC88C	90840033	0.964000	0.33143	0.018000	0.16275	0.073000	0.16967	2.267000	0.43329	0.795000	0.33922	-0.258000	0.10820	GCG		0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		67	374	0	0	0	1	0	67	374					T	91770280	C	T	91770280	3	4	79	1	0	0	0	0	1	0	0	0	2872	768	27	1	2730	1	CCDC88C	14	91770280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3870	91770280	15579260	14899	25216											
CCDC88C	440193	broad.mit.edu	37	chr14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcactctctaactggCgatttaggctcgctttctct	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	994					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2980-2982)cGc>cAc		coiled-coil domain containing 88C							142	138	140					14																	91774720		2070	4211	6281	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91774720C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2981G>A	14.37:g.91774720C>T	ENSP00000374507:p.Arg994His						p.R994H	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			17	3067	-		all_cancers(154;0.0468)	994					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2981G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167316	0.06461	.	.	ENSG00000015133	ENST00000389857	T	0.14516	2.5	4.53	-1.03	0.10102	.	0.422486	0.19662	N	0.108941	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	10	0.33141	T	0.24	-5.3296	4.6717	0.12692	0.1297:0.2315:0.0:0.6388	.	994	Q9P219	DAPLE_HUMAN	H	994	ENSP00000374507:R994H	ENSP00000374507:R994H	R	-	2	0	CCDC88C	90844473	0.997000	0.39634	0.001000	0.08648	0.044000	0.14063	1.276000	0.33156	-0.503000	0.06586	0.313000	0.20887	CGC		0.493	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		44	237	0	0	0	1	0	44	237					T	91774720	C	T	91774720	3	4	79	1	0	0	0	0	1	0	0	0	2872	768	27	1	3161	1	CCDC88C	14	91774720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4440	91774720	15574820	14900	25217											
CCDC88C	440193	broad.mit.edu	37	chr14	91779704	91779704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccagggccttcctgTccttctcggccccctccaac	7	21	1	0	rs61743881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91779704T>C	ENST00000389857.6	-	15	2542	c.2456A>G	c.(2455-2457)gAc>gGc	p.D819G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	819					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCCTTCCTGTCCTTCTCGGC	0.667													T|||	1	0.000199681	0.0	0.0	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2455-2457)gAc>gGc		coiled-coil domain containing 88C		T	GLY/ASP	3,4239		0,3,2118	29	32	31		2456	4.9	0.7	14	dbSNP_129	31	25,8451		0,25,4213	yes	missense	CCDC88C	NM_001080414.3	94	0,28,6331	CC,CT,TT		0.295,0.0707,0.2202	benign	819/2029	91779704	28,12690	2121	4238	6359	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779704T>C		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2456A>G	14.37:g.91779704T>C	ENSP00000374507:p.Asp819Gly						p.D819G	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2542	-		all_cancers(154;0.0468)	819					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2456A>G	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468627	0.43839	7.07E-4	0.00295	ENSG00000015133	ENST00000389857	T	0.15256	2.44	4.88	4.88	0.63580	.	0.329506	0.22466	U	0.059682	T	0.26702	0.0653	L	0.54323	1.7	0.80722	D	1	P	0.39071	0.658	P	0.46026	0.501	T	0.02797	-1.1109	10	0.87932	D	0	-27.9303	14.4997	0.67711	0.0:0.0:0.0:1.0	.	819	Q9P219	DAPLE_HUMAN	G	819	ENSP00000374507:D819G	ENSP00000374507:D819G	D	-	2	0	CCDC88C	90849457	0.999000	0.42202	0.693000	0.30195	0.632000	0.37999	3.259000	0.51515	1.827000	0.53221	0.459000	0.35465	GAC		0.667	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		7	282	0	0	0	1	0	7	282					C	91779704	T	C	91779704	3	2	79	1	0	0	0	0	1	0	0	0	2872	1667	58	4	3694	4	CCDC88C	14	91779704	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4984	91779704	15569836	14901	25218											
CCDC88C	440193	broad.mit.edu	37	chr14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtccctgtgcagctgccGcttctcaaactccaactggc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	614					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1840-1842)Cgg>Tgg		coiled-coil domain containing 88C							74	75	75					14																	91780320		2109	4226	6335	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91780320G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1840C>T	14.37:g.91780320G>A	ENSP00000374507:p.Arg614Trp						p.R614W	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	1926	-		all_cancers(154;0.0468)	614					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1840C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659039	0.67586	.	.	ENSG00000015133	ENST00000389857	T	0.31510	1.49	5.46	0.828	0.18841	.	0.630024	0.13382	U	0.392022	T	0.34337	0.0894	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.39901	-0.9591	10	0.87932	D	0	-10.4006	14.9305	0.70911	0.0:0.0:0.2364:0.7636	.	614	Q9P219	DAPLE_HUMAN	W	614	ENSP00000374507:R614W	ENSP00000374507:R614W	R	-	1	2	CCDC88C	90850073	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.998000	0.40796	0.224000	0.20940	0.491000	0.48974	CGG		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		50	180	0	0	0	1	0	50	180					A	91780320	G	A	91780320	3	1	79	1	0	0	0	0	1	0	0	0	2872	1086	38	1	4310	1	CCDC88C	14	91780320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616	91780320	15569220	14902	25219											
CCDC88C	440193	broad.mit.edu	37	chr14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctctccacgcggttcGccttctcccgcagggaatcc	9	19	2	0	rs200829106		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19653	0.0		0.0	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(964-966)gCg>gTg		coiled-coil domain containing 88C							43	48	47					14																	91804434		2111	4231	6342	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91804434G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.965C>T	14.37:g.91804434G>A	ENSP00000374507:p.Ala322Val						p.A322V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			10	1051	-		all_cancers(154;0.0468)	322					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.965C>T	CCDS45151.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.631770	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.18502	2.21	5.54	5.54	0.83059	.	0.000000	0.48286	U	0.000193	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56960	0.81	T	0.25537	-1.0129	10	0.87932	D	0	-26.7377	19.4767	0.94992	0.0:0.0:1.0:0.0	.	322	Q9P219	DAPLE_HUMAN	V	322	ENSP00000374507:A322V	ENSP00000374507:A322V	A	-	2	0	CCDC88C	90874187	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.991000	0.88244	2.623000	0.88846	0.561000	0.74099	GCG		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		52	220	0	0	0	1	0	52	220					A	91804434	G	A	91804434	3	1	79	1	0	0	0	0	1	0	0	0	2872	1087	38	1	5205	1	CCDC88C	14	91804434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24114	91804434	15545106	14903	25220											
CCDC88C	440193	broad.mit.edu	37	chr14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagctcctgcctgacgcGccgcagcctggccttggtgt	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	265					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(793-795)Cgc>Tgc		coiled-coil domain containing 88C							40	47	45					14																	91805638		2199	4296	6495	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91805638G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.793C>T	14.37:g.91805638G>A	ENSP00000374507:p.Arg265Cys						p.R265C	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			8	879	-		all_cancers(154;0.0468)	265					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.793C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583325	0.65992	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.46063	0.88	5.25	3.21	0.36854	.	0.000000	0.47455	U	0.000234	T	0.59838	0.2223	M	0.83012	2.62	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	T	0.63010	-0.6732	10	0.87932	D	0	-13.8149	7.375	0.26823	0.0:0.1158:0.4603:0.4238	.	265	Q9P219	DAPLE_HUMAN	C	265;229	ENSP00000374507:R265C	ENSP00000374507:R265C	R	-	1	0	CCDC88C	90875391	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.344000	0.44010	1.185000	0.42971	0.561000	0.74099	CGC		0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		36	123	0	0	0	1	0	36	123					A	91805638	G	A	91805638	3	1	79	1	0	0	0	0	1	0	0	0	2872	1087	38	1	5385	1	CCDC88C	14	91805638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1204	91805638	15543902	14904	25221											
SMEK1	55671	broad.mit.edu	37	chr14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagtttgggattatcttGcctttctctttgttgttcaa	8	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554943.1	-	12	2066	c.1951C>T	c.(1951-1953)Caa>Taa	p.Q651*	SMEK1_ENST00000554684.1_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	651					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATTATCTTGCCTTTCTCTT	0.313																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1912-1914)Caa>Taa		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							237	238	238					14																	91929101		2202	4300	6502	SO:0001587	stop_gained	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91929101G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1951C>T	14.37:g.91929101G>A	ENSP00000450883:p.Gln651*					SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Nonsense_Mutation_p.Q651*|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*	p.Q638*			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	12	2408	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	651					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Nonsense_Mutation	SNP	ENST00000554943.1	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.496534	0.99416	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.4584	19.3709	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;412;651;412;638	.	ENSP00000337125:Q638X	Q	-	1	0	SMEK1	90998854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.756000	0.98918	2.576000	0.86940	0.655000	0.94253	CAA		0.313	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		33	365	0	0	0	1	0	33	365					A	91929101	G	A	91929101	4	1	79	1	0	0	0	0	0	1	0	0	14843	1328	46	2	566	2	SMEK1	14	91929101	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123463	91929101	15420439	14905	25222											
SMEK1	55671	broad.mit.edu	37	chr14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataagaactagcactctccGgaggatatccttattaataa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554943.1	-	10	1727	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SMEK1_ENST00000554684.1_Missense_Mutation_p.R525W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCACTCTCCGGAGGATATCC	0.358																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1573-1575)Cgg>Tgg		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							117	119	119					14																	91937229		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937229G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1612C>T	14.37:g.91937229G>A	ENSP00000450883:p.Arg538Trp					SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000554943.1_Missense_Mutation_p.R538W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W	p.R525W			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2069	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	538					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1573C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582799	0.86748	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.982;0.994	T	0.77408	-0.2599	10	0.72032	D	0.01	-7.1543	19.3334	0.94303	0.0:0.0:1.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	525;525;299;538;299;525	ENSP00000450864:R525W;ENSP00000337125:R525W;ENSP00000392704:R299W;ENSP00000450883:R538W;ENSP00000450891:R299W;ENSP00000452596:R525W	ENSP00000337125:R525W	R	-	1	2	SMEK1	91006982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.290000	0.65661	2.567000	0.86603	0.557000	0.71058	CGG		0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		70	325	0	0	0	1	0	70	325					A	91937229	G	A	91937229	3	1	79	1	0	0	0	0	1	0	0	0	14843	1115	39	1	913	1	SMEK1	14	91937229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8128	91937229	15412311	14906	25223											
CATSPERB	79820	broad.mit.edu	37	chr14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaatttacataccgataagCtgtggcgtgatggataacga	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	275					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCGATAAGCTGTGGCGTGA	0.333																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(823-825)aGc>aTc		catsper channel auxiliary subunit beta							96	92	93					14																	92159477		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92159477C>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.824G>T	14.37:g.92159477C>A	ENSP00000256343:p.Ser275Ile						p.S275I	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			9	980	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	275					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.824G>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293217	0.10567	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.08	-10.1	0.00402	.	6.205340	0.00496	N	0.000145	T	0.11707	0.0285	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17018	-1.0383	10	0.26408	T	0.33	15.6753	2.4325	0.04475	0.232:0.0968:0.1437:0.5274	.	275	Q9H7T0	CTSRB_HUMAN	I	275	ENSP00000256343:S275I	ENSP00000256343:S275I	S	-	2	0	CATSPERB	91229230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.323000	0.01117	-1.723000	0.01375	-1.251000	0.01509	AGC		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		54	323	1	0	5.82388e-19	1	6.47979e-19	54	323					A	92159477	C	A	92159477	3	1	79	1	0	0	0	0	1	0	0	0	2698	797	28	3	2602	3	CATSPERB	14	92159477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222248	92159477	15190063	14907	25224											
TC2N	123036	broad.mit.edu	37	chr14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagcaactctttataaattCtgttgccattacattcaatt	3	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	4					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(10-12)Gaa>Aaa		tandem C2 domains, nuclear							62	60	61					14																	92280104		2202	4298	6500	SO:0001583	missense	123036					nucleus		g.chr14:92280104C>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.10G>A	14.37:g.92280104C>T	ENSP00000387882:p.Glu4Lys					TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K	p.E4K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	2	333	-			4						Missense_Mutation	SNP	ENST00000435962.2	37	c.10G>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102708	0.94245	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.20598	3.03;3.03;3.03;2.06	6.17	6.17	0.99709	.	0.105362	0.64402	D	0.000007	T	0.32164	0.0820	M	0.64997	1.995	0.53688	D	0.999979	P;B	0.43231	0.801;0.297	B;B	0.42361	0.385;0.172	T	0.02632	-1.1131	10	0.87932	D	0	-19.9146	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4;4	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	4	ENSP00000387882:E4K;ENSP00000343199:E4K;ENSP00000353802:E4K;ENSP00000451317:E4K	ENSP00000343199:E4K	E	-	1	0	TC2N	91349857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.941000	0.99782	0.655000	0.94253	GAA		0.323	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		11	89	0	0	0	1	0	11	89					T	92280104	C	T	92280104	3	4	79	1	0	0	0	0	1	0	0	0	15717	922	32	2	1506	2	TC2N	14	92280104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120627	92280104	15069436	14908	25225											
FBLN5	10516	broad.mit.edu	37	chr14	92347762	92347762	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcacattcgttgatgTctgaaatgcaggggagacaa	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000342058.4	-	9	1456	c.863A>C	c.(862-864)gAc>gCc	p.D288A	FBLN5_ENST00000267620.10_Splice_Site_p.D329A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	288	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTCGTTGATGTCTGAAATGCA	0.542																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.e10-1		fibulin 5							97	87	90					14																	92347762		2203	4300	6503	SO:0001630	splice_region_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92347762T>G	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.863-1A>C	14.37:g.92347762T>G						FBLN5_ENST00000342058.4_Splice_Site_p.D288_splice|FBLN5_ENST00000556154.1_Splice_Site_p.D293_splice	p.D329_splice			Q9UBX5	FBLN5_HUMAN			10	1155	-		all_cancers(154;0.0722)	288			EGF-like 6; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Splice_Site	SNP	ENST00000342058.4	37	c.985_splice	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834356	0.91036	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.99060	-5.38;-5.38;-5.38	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	D	0.99164	1.0862	10	0.87932	D	0	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	329;293;288	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	329;288;293	ENSP00000267620:D329A;ENSP00000345008:D288A;ENSP00000451982:D293A	ENSP00000267620:D385A	D	-	2	0	FBLN5	91417515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.209000	0.71365	0.533000	0.62120	GAC		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		Missense_Mutation	65	278	0	0	0	1	0	65	278					G	92347762	T	G	92347762	5	3	79	1	0	0	0	0	0	0	1	0	5725	1681	58	4	495	4	FBLN5	14	92347762	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67658	92347762	15001778	14909	25226											
FBLN5	10516	broad.mit.edu	37	chr14	92353550	92353550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattaccactgcaatgaacGccatcttcctcaagttcata	4	14	3	1	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000342058.4	-	7	1319	c.726C>T	c.(724-726)ggC>ggT	p.G242G	FBLN5_ENST00000267620.10_Silent_p.G283G|FBLN5_ENST00000556154.1_Silent_p.G247G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547																																						ENST00000267620.10																			1	Substitution - coding silent(1)	p.G242G(1)	endometrium(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(847-849)ggC>ggT		fibulin 5		G		1,4405	2.1+/-5.4	0,1,2202	215	191	199		726	-10.6	0	14	dbSNP_134	199	0,8600		0,0,4300	no	coding-synonymous	FBLN5	NM_006329.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		242/449	92353550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353550G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.726C>T	14.37:g.92353550G>A						FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G	p.G283G			Q9UBX5	FBLN5_HUMAN			8	1018	-		all_cancers(154;0.0722)	242			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.849C>T	CCDS9898.1																																																																																				0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			129	676	0	0	0	1	0	129	676					A	92353550	G	A	92353550	2	1	79	1	0	0	0	0	0	0	0	1	5725	1074	38	1		1	FBLN5	14	92353550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5788	92353550	14995990	14910	25227											
TRIP11	9321	broad.mit.edu	37	chr14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttccattgcattagagGatgaaactagcttttcctcc	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1623					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)			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)		TGCATTAGAGGATGAAACTAG	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(4867-4869)tCc>tTc		thyroid hormone receptor interactor 11							105	96	99					14																	92465608		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92465608G>A	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.4868C>T	14.37:g.92465608G>A	ENSP00000267622:p.Ser1623Phe						p.S1623F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	13	5241	-			1623					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4868C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318692	0.81469	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06528	3.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02450	-1.1157	10	0.87932	D	0	.	19.1395	0.93443	0.0:0.0:1.0:0.0	.	1359;1623	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1623;1359	ENSP00000267622:S1623F	ENSP00000267622:S1623F	S	-	2	0	TRIP11	91535361	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	8.971000	0.93419	2.538000	0.85594	0.655000	0.94253	TCC		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			41	213	0	0	0	1	0	41	213					A	92465608	G	A	92465608	3	1	79	1	0	0	0	0	1	0	0	0	16608	1174	41	2	1107	2	TRIP11	14	92465608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112058	92465608	14883932	14911	25228											
TRIP11	9321	broad.mit.edu	37	chr14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtaacttttgcaaaacaTcttgtttctcctttagctgc	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1403					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)			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)		TTGCAAAACATCTTGTTTCTC	0.353			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(4207-4209)gAt>gGt		thyroid hormone receptor interactor 11							106	103	104					14																	92470112		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470112T>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.4208A>G	14.37:g.92470112T>C	ENSP00000267622:p.Asp1403Gly						p.D1403G	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4581	-			1403					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4208A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955509	0.53293	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05580	3.42	5.36	4.21	0.49690	.	0.442134	0.25135	N	0.032875	T	0.10294	0.0252	L	0.47716	1.5	0.39889	D	0.973749	B;P	0.48503	0.015;0.911	B;P	0.47705	0.015;0.555	T	0.04255	-1.0965	10	0.59425	D	0.04	.	10.9328	0.47228	0.0:0.0738:0.0:0.9262	.	1139;1403	F5H1Z0;Q15643	.;TRIPB_HUMAN	G	1403;1139	ENSP00000267622:D1403G	ENSP00000267622:D1403G	D	-	2	0	TRIP11	91539865	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	4.849000	0.62882	0.875000	0.35847	0.379000	0.24179	GAT		0.353	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			81	358	0	0	0	1	0	81	358					C	92470112	T	C	92470112	3	2	79	1	0	0	0	0	1	0	0	0	16608	1435	50	4	1775	4	TRIP11	14	92470112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4504	92470112	14879428	14912	25229											
NDUFB1	4707	broad.mit.edu	37	chr14	92588068	92588068	+	5'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggaagctgcgacctcggGacctgccattcgccgcgccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92588068G>A	ENST00000553514.1	-	0	0				NDUFB1_ENST00000556555.1_5'Flank|NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.V18V|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000605997.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		GCGACCTCGGGACCTGCCATT	0.597																																						ENST00000329559.3																			0				large_intestine(1)|lung(1)	2						c.(52-54)gtC>gtT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	NADH(DB00157)						42	47	45					14																	92588068		2203	4293	6496	SO:0001623	5_prime_UTR_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588068G>A	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"Mitochondrial respiratory chain complex / Complex I"	7695	protein-coding gene	gene with protein product	"complex I MNLL subunit"	603837	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-206C>T	14.37:g.92588068G>A						NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	p.V18V	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	1	193	-		all_cancers(154;0.0766)	0					A0AV68	Silent	SNP	ENST00000553514.1	37	c.54C>T																																																																																					0.597	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545		48	454	0	0	0	1	0	48	454					A	92588068	G	A	92588068	1	1	79	0	1	0	0	0	0	0	0	0	10320	1161	41	2		2	NDUFB1	14	92588068	5'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117956	92588068	14761472	14913	25230											
CPSF2	53981	broad.mit.edu	37	chr14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgtgttaatagcagtgGacacagcaggcagagttttg	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	238					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(712-714)Gac>Aac		cleavage and polyadenylation specific factor 2, 100kDa							216	192	201					14																	92608558		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92608558G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.712G>A	14.37:g.92608558G>A	ENSP00000298875:p.Asp238Asn						p.D238N	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	8	997	+		all_cancers(154;0.0766)	238					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.712G>A	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566748	0.96540	.	.	ENSG00000165934	ENST00000298875	T	0.52295	0.67	5.5	5.5	0.81552	.	0.045879	0.85682	D	0.000000	T	0.77212	0.4097	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81466	-0.0920	10	0.46703	T	0.11	.	19.4	0.94625	0.0:0.0:1.0:0.0	.	238	Q9P2I0	CPSF2_HUMAN	N	238	ENSP00000298875:D238N	ENSP00000298875:D238N	D	+	1	0	CPSF2	91678311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.575000	0.86900	0.563000	0.77884	GAC		0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			140	622	0	0	0	1	0	140	622					A	92608558	G	A	92608558	3	1	79	1	0	0	0	0	1	0	0	0	3834	1174	41	2	734	2	CPSF2	14	92608558	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20490	92608558	14740982	14914	25231											
CPSF2	53981	broad.mit.edu	37	chr14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatctctctttatgtcAtggtctttctgacttggccc	7	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	312					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(934-936)cAt>cGt		cleavage and polyadenylation specific factor 2, 100kDa							108	92	98					14																	92609433		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92609433A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.935A>G	14.37:g.92609433A>G	ENSP00000298875:p.His312Arg						p.H312R	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	9	1220	+		all_cancers(154;0.0766)	312					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.935A>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377984	0.82682	.	.	ENSG00000165934	ENST00000298875	T	0.42900	0.96	4.99	4.99	0.66335	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58864	-0.7561	10	0.29301	T	0.29	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	312	Q9P2I0	CPSF2_HUMAN	R	312	ENSP00000298875:H312R	ENSP00000298875:H312R	H	+	2	0	CPSF2	91679186	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	CAT		0.428	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			25	273	0	0	0	1	0	25	273					G	92609433	A	G	92609433	3	3	79	1	0	0	0	0	1	0	0	0	3834	217	8	4	961	4	CPSF2	14	92609433	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	875	92609433	14740107	14915	25232											
CPSF2	53981	broad.mit.edu	37	chr14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgaagggaaagaacTtgaagaatacttggaaaaag	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	392					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(1174-1176)cTt>cCt		cleavage and polyadenylation specific factor 2, 100kDa							59	59	59					14																	92620736		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92620736T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1175T>C	14.37:g.92620736T>C	ENSP00000298875:p.Leu392Pro						p.L392P	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	10	1460	+		all_cancers(154;0.0766)	392					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1175T>C	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476771	0.84640	.	.	ENSG00000165934	ENST00000298875	T	0.57907	0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79914	-0.1602	10	0.66056	D	0.02	.	16.0967	0.81129	0.0:0.0:0.0:1.0	.	392	Q9P2I0	CPSF2_HUMAN	P	392	ENSP00000298875:L392P	ENSP00000298875:L392P	L	+	2	0	CPSF2	91690489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.189000	0.77747	2.263000	0.75096	0.379000	0.24179	CTT		0.328	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			32	84	0	0	0	1	0	32	84					C	92620736	T	C	92620736	3	2	79	1	0	0	0	0	1	0	0	0	3834	1609	56	4	1205	4	CPSF2	14	92620736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11303	92620736	14728804	14916	25233											
SLC24A4	123041	broad.mit.edu	37	chr14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccggcctcttcggcagCttgggtgggtgctggtacgg	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000393265.2_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	42					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTCGGCAGCTTGGGTGGGT	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(124-126)agC>agA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							44	44	44					14																	92790300		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92790300C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.126C>A	14.37:g.92790300C>A	ENSP00000431840:p.Ser42Arg					SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R	p.S42R			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	1	352	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	42					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.126C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340847	0.24339	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.68181	0.11;0.11;-0.31;-0.31	4.09	2.23	0.28157	.	0.294941	0.36932	N	0.002328	T	0.35799	0.0944	N	0.08118	0	0.22926	N	0.998557	B;B	0.33583	0.418;0.399	B;B	0.30943	0.122;0.065	T	0.17258	-1.0375	10	0.15499	T	0.54	.	4.3481	0.11143	0.0:0.6001:0.1879:0.212	.	42;42	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	R	42;42;25;25	ENSP00000433302:S42R;ENSP00000431840:S42R;ENSP00000298877:S25R;ENSP00000337789:S25R	ENSP00000298877:S25R	S	+	3	2	SLC24A4	91860053	0.999000	0.42202	0.941000	0.38009	0.669000	0.39330	0.380000	0.20602	0.378000	0.24764	0.462000	0.41574	AGC		0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		22	117	1	0	7.92952e-12	1	8.47903e-12	22	117					A	92790300	C	A	92790300	3	1	79	1	0	0	0	0	1	0	0	0	14518	796	28	3	77	3	SLC24A4	14	92790300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169564	92790300	14559240	14917	25234											
SLC24A4	123041	broad.mit.edu	37	chr14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctggcaggtggtccGtctgacgtggtgggccgtgt	18	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(589-591)cGt>cAt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							149	106	120					14																	92909751		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92909751G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.590G>A	14.37:g.92909751G>A	ENSP00000431840:p.Arg197His					SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H	p.R197H			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	7	816	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	197					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.590G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	6.791	0.514922	0.12944	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.89	1.46	0.22682	Sodium/calcium exchanger membrane region (1);	0.573016	0.19313	N	0.117344	T	0.38214	0.1032	N	0.12611	0.24	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.18681	-1.0329	10	0.28530	T	0.3	.	7.6125	0.28139	0.175:0.1392:0.6858:0.0	.	197;133;197	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	H	133;197;197;180;180	ENSP00000376948:R133H;ENSP00000433302:R197H;ENSP00000431840:R197H;ENSP00000298877:R180H;ENSP00000337789:R180H	ENSP00000298877:R180H	R	+	2	0	SLC24A4	91979504	0.837000	0.29446	0.110000	0.21437	0.929000	0.56500	1.395000	0.34520	0.459000	0.27016	0.462000	0.41574	CGT		0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		48	200	0	0	0	1	0	48	200					A	92909751	G	A	92909751	3	1	79	1	0	0	0	0	1	0	0	0	14518	1145	40	1	565	1	SLC24A4	14	92909751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119451	92909751	14439789	14918	25235											
RIN3	79890	broad.mit.edu	37	chr14	93118417	93118417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcccatgatgacctgCgagagactcccatgccccac	9	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	ENST00000216487.7	+	6	1182	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	341	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGATGACCTGCGAGAGACTCC	0.697																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1021-1023)tgC>tgT		Ras and Rab interactor 3							22	24	24					14																	93118417		2050	4075	6125	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118417C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1023C>T	14.37:g.93118417C>T						RIN3_ENST00000418924.2_3'UTR	p.C341C	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1182	+		all_cancers(154;0.0701)	341			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.1023C>T	CCDS32144.1																																																																																				0.697	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			41	242	0	0	0	1	0	41	242					T	93118417	C	T	93118417	2	4	79	1	0	0	0	0	0	0	0	1	13423	776	27	1		1	RIN3	14	93118417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208666	93118417	14231123	14919	25236											
RIN3	79890	broad.mit.edu	37	chr14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcacggaggaggagCtggagcagttcagcagcccc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	559					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1675-1677)Ctg>Atg		Ras and Rab interactor 3							59	52	55					14																	93119069		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93119069C>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1675C>A	14.37:g.93119069C>A	ENSP00000216487:p.Leu559Met					RIN3_ENST00000418924.2_3'UTR	p.L559M	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1834	+		all_cancers(154;0.0701)	559					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1675C>A	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.949714|1.949714	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.06371	.|3.31	4.58|4.58	3.62|3.62	0.41486|0.41486	.|.	.|0.882755	.|0.09617	.|N	.|0.778156	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.971;0.94;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.751;0.641;0.85	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.19147	.|T	.|0.46	-4.07|-4.07	14.0183|14.0183	0.64539|0.64539	0.0:0.848:0.152:0.0|0.0:0.848:0.152:0.0	.|.	.|559;605;484;559	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	D|M	75|559;483	.|ENSP00000216487:L559M	.|ENSP00000216487:L559M	A|L	+|+	2|1	0|2	RIN3|RIN3	92188822|92188822	0.001000|0.001000	0.12720|0.12720	0.994000|0.994000	0.49952|0.49952	0.627000|0.627000	0.37826|0.37826	0.056000|0.056000	0.14256|0.14256	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.612	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			31	295	1	0	1.39806e-14	1	1.52044e-14	31	295					A	93119069	C	A	93119069	3	1	79	1	0	0	0	0	1	0	0	0	13423	796	28	3	1697	3	RIN3	14	93119069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	93119069	14230471	14920	25237											
GOLGA5	9950	broad.mit.edu	37	chr14	93282689	93282689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatggagctggaagaacttCggcatgagaaagagatgcag	15	6	0	3	rs34964124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93282689C>T	ENST00000163416.2	+	7	1670	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	472					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGAAGAACTTCGGCATGAGAA	0.443			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(1414-1416)Cgg>Tgg		golgin A5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	121	119	119		1414	5.3	1	14	dbSNP_126	119	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	472/732	93282689	1,13005	2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93282689C>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1414C>T	14.37:g.93282689C>T	ENSP00000163416:p.Arg472Trp					GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	p.R472W	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	7	1670	+		all_cancers(154;0.0934)	472					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1414C>T	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870146	0.72065	2.27E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	.	0.000000	0.43747	D	0.000537	T	0.66426	0.2788	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.69978	-0.4998	10	0.87932	D	0	-24.7581	12.2417	0.54546	0.2881:0.7119:0.0:0.0	rs34964124	472	Q8TBA6	GOGA5_HUMAN	W	472;472;381	ENSP00000163416:R472W;ENSP00000348252:R472W	ENSP00000163416:R472W	R	+	1	2	GOLGA5	92352442	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	2.571000	0.45990	2.490000	0.84030	0.655000	0.94253	CGG		0.443	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			17	527	0	0	0	1	0	17	527					T	93282689	C	T	93282689	3	4	79	1	0	0	0	0	1	0	0	0	6585	875	31	1	1436	1	GOLGA5	14	93282689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	93282689	14066851	14921	25238											
CHGA	1113	broad.mit.edu	37	chr14	93390551	93390551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcccagtcactgcGctccctgtgaacagccctat	6	16	3	1	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000553866.1_Intron|CHGA_ENST00000334654.4_Silent_p.A18A	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(52-54)gcG>gcA		chromogranin A (parathyroid secretory protein 1)							50	49	49					14																	93390551		2203	4300	6503	SO:0001819	synonymous_variant	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93390551G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.54G>A	14.37:g.93390551G>A						CHGA_ENST00000553866.1_Intron|CHGA_ENST00000334654.4_Silent_p.A18A	p.A18A	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	2	334	+		all_cancers(154;0.0843)	18					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	c.54G>A	CCDS9906.1																																																																																				0.582	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		20	86	0	0	0	1	0	20	86					A	93390551	G	A	93390551	2	1	79	1	0	0	0	0	0	0	0	1	3347	1074	38	1		1	CHGA	14	93390551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107862	93390551	13958989	14922	25239											
CHGA	1113	broad.mit.edu	37	chr14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgggccgcagctgcgacGaggctggaggccatcctccc	14	17	0	0	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000216492.5	+	7	1455	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(1174-1176)cGa>cAa		chromogranin A (parathyroid secretory protein 1)		G	GLN/ARG	1,4379		0,1,2189	12	14	13		1175	2.9	0.1	14	dbSNP_119	13	2,8550		0,2,4274	no	missense	CHGA	NM_001275.3	43	0,3,6463	AA,AG,GG		0.0234,0.0228,0.0232	benign	392/458	93399081	3,12929	2190	4276	6466	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93399081G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1175G>A	14.37:g.93399081G>A	ENSP00000216492:p.Arg392Gln					CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	p.R392Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	7	1455	+		all_cancers(154;0.0843)	392					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.1175G>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930877	0.18131	2.28E-4	2.34E-4	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.02197	4.4;4.4	4.71	2.86	0.33363	.	0.400442	0.21601	N	0.071941	T	0.02119	0.0066	L	0.48642	1.525	0.09310	N	1	P;B	0.39352	0.669;0.419	B;B	0.29440	0.053;0.102	T	0.48681	-0.9014	10	0.32370	T	0.25	-1.3963	8.8796	0.35367	0.3464:0.0:0.6536:0.0	rs9658669	241;392	G5E968;P10645	.;CMGA_HUMAN	Q	392;241	ENSP00000216492:R392Q;ENSP00000334023:R241Q	ENSP00000216492:R392Q	R	+	2	0	CHGA	92468834	0.991000	0.36638	0.139000	0.22197	0.339000	0.28857	3.094000	0.50227	0.092000	0.17331	-1.164000	0.01763	CGA		0.697	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		22	73	0	0	0	1	0	22	73					A	93399081	G	A	93399081	3	1	79	1	0	0	0	0	1	0	0	0	3347	1058	37	1	1201	1	CHGA	14	93399081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8530	93399081	13950459	14923	25240											
UBR7	55148	broad.mit.edu	37	chr14	93678410	93678410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaattctggcaataagtaCaatgacaacttttttggatt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR|RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	126							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328																																						ENST00000557574.1																			0											c.(433-435)taC>taT									82	78	80					14																	93678410		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:93678410C>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.378C>T	14.37:g.93678410C>T						UBR7_ENST00000416753.1_Silent_p.Y50Y|UBR7_ENST00000013070.6_Silent_p.Y126Y|RP11-371E8.4_ENST00000557048.1_3'UTR	p.145_145insY							5	491	+								Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.435C>T	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981241|0.981241	0.18812|0.18812	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555113|ENST00000553857	.|.	.|.	.|.	5.89|5.89	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58264	.|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|4	.|.	.|.	.|.	-0.6792|-0.6792	9.7459|9.7459	0.40446|0.40446	0.0:0.5626:0.0:0.4374|0.0:0.5626:0.0:0.4374	.|.	.|.	.|.	.|.	X|I	117|52	.|.	.|.	Q|T	+|+	1|2	0|0	UBR7|UBR7	92748163|92748163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.018000|1.018000	0.30002|0.30002	0.414000|0.414000	0.25790|0.25790	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.328	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		16	109	0	0	0	1	0	16	109					T	93678410	C	T	93678410	2	4	79	1	0	0	0	0	0	0	0	1	16960	489	17	2		2	UBR7	14	93678410	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279329	93678410	13671130	14924	25241											
BTBD7	55727	broad.mit.edu	37	chr14	93712552	93712552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtgtactgtttacGcgacatctcccaggctgtct	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	734					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2200-2202)cgC>cgT		BTB (POZ) domain containing 7							123	121	122					14																	93712552		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93712552G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2202C>T	14.37:g.93712552G>A						BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	p.R734R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2509	-		all_cancers(154;0.08)	734					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2202C>T	CCDS32146.1																																																																																				0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		101	622	0	0	0	1	0	101	622					A	93712552	G	A	93712552	2	1	79	1	0	0	0	0	0	0	0	1	1550	1074	38	1		1	BTBD7	14	93712552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34142	93712552	13636988	14925	25242											
BTBD7	55727	broad.mit.edu	37	chr14	93730244	93730244	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaatgtaaagcttgtcGgtgcacccatttagagccat	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93730244G>A	ENST00000334746.5	-	4	1565	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	420	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAGCTTGTCGGTGCACCCAT	0.428																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1258-1260)Cga>Tga		BTB (POZ) domain containing 7							139	127	131					14																	93730244		2203	4300	6503	SO:0001587	stop_gained	55727							g.chr14:93730244G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1258C>T	14.37:g.93730244G>A	ENSP00000335615:p.Arg420*					BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	p.R420*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1565	-		all_cancers(154;0.08)	420					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	c.1258C>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	39	7.793190	0.98492	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	.	.	.	4.99	2.87	0.33458	.	0.055019	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.747	0.57287	0.0:0.1175:0.7463:0.1362	.	.	.	.	X	420;69	.	ENSP00000335615:R420X	R	-	1	2	BTBD7	92799997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	1.100000	0.41517	0.558000	0.71614	CGA		0.428	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		17	404	0	0	0	1	0	17	404					A	93730244	G	A	93730244	4	1	79	1	0	0	0	0	0	1	0	0	1550	1124	39	1	2172	1	BTBD7	14	93730244	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17692	93730244	13619296	14926	25243											
COX8C	341947	broad.mit.edu	37	chr14	93814406	93814406	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttgtggtgttttttacGaccttcttaacaccagctgc	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453																																					GBM(134;630 1800 8342 13106 15419)	ENST00000342144.2																			1	Substitution - coding silent(1)	p.T53T(1)	lung(1)	large_intestine(1)|lung(1)|prostate(2)|skin(1)	5						c.(157-159)acG>acA		cytochrome c oxidase subunit VIIIC							190	137	155					14																	93814406		2203	4300	6503	SO:0001819	synonymous_variant	341947					integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr14:93814406G>A	AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"Mitochondrial respiratory chain complex / Complex IV"	24382	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit VIII isoform 3"		"cytochrome c oxidase subunit 8C"			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.159G>A	14.37:g.93814406G>A						UNC79_ENST00000256339.4_Intron	p.T53T	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	2	237	+		all_cancers(154;0.083)	53					Q495K7	Silent	SNP	ENST00000342144.2	37	c.159G>A	CCDS9910.1																																																																																				0.453	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	NM_182971		59	250	0	0	0	1	0	59	250					A	93814406	G	A	93814406	2	1	79	1	0	0	0	0	0	0	0	1	3795	1045	37	1		1	COX8C	14	93814406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84162	93814406	13535134	14927	25244											
KIAA1409	57578	broad.mit.edu	37	chr14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtttcggagtcctttgcGtagtccgtttcgtagccctt	10	12	0	0	rs188822336		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94044282G>A	ENST00000393151.2	+	18	2306	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	UNC79_ENST00000555664.1_Missense_Mutation_p.R769H|UNC79_ENST00000553484.1_Missense_Mutation_p.R769H|UNC79_ENST00000256339.4_Missense_Mutation_p.R592H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	769					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R769H(1)|p.R592H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTCCTTTGCGTAGTCCGTTT	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21299	0.0		0.0	False		,,,				2504	0.0					ENST00000553484.1																			2	Substitution - Missense(2)	p.R769H(1)|p.R592H(1)	prostate(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2305-2307)cGt>cAt		unc-79 homolog (C. elegans)							244	223	230					14																	94044282		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044282G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2306G>A	14.37:g.94044282G>A	ENSP00000376858:p.Arg769His					UNC79_ENST00000555664.1_Missense_Mutation_p.R769H|UNC79_ENST00000393151.2_Missense_Mutation_p.R769H|UNC79_ENST00000256339.4_Missense_Mutation_p.R592H	p.R769H			Q9P2D8	UNC79_HUMAN			18	2460	+			769					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2306G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.40	2.523875	0.44866	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.33	3.52	0.40303	.	0.058560	0.64402	N	0.000005	T	0.15478	0.0373	L	0.29908	0.895	0.42683	D	0.993556	B	0.22276	0.067	B	0.14578	0.011	T	0.04320	-1.0960	10	0.40728	T	0.16	-5.664	11.9231	0.52803	0.1415:0.0:0.8585:0.0	.	769	C9JQL1	.	H	592;769;769;769;769	ENSP00000256339:R592H;ENSP00000450868:R769H;ENSP00000451360:R769H;ENSP00000376858:R769H	ENSP00000256339:R592H	R	+	2	0	KIAA1409	93114035	1.000000	0.71417	0.962000	0.40283	0.885000	0.51271	4.110000	0.57831	0.654000	0.30846	-0.759000	0.03464	CGT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		177	784	0	0	0	1	0	177	784					A	94044282	G	A	94044282	3	1	79	1	0	0	0	0	1	0	0	0	8260	1145	40	1	1833	1	KIAA1409	14	94044282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229876	94044282	13305258	14928	25245											
KIAA1409	57578	broad.mit.edu	37	chr14	94088131	94088131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttacattagacgaacatCgtaggaagtcgtgcatagat	10	6	0	2	rs139010639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94088131C>T	ENST00000393151.2	+	30	4552	c.4552C>T	c.(4552-4554)Cgt>Tgt	p.R1518C	UNC79_ENST00000555664.1_Missense_Mutation_p.R1518C|UNC79_ENST00000553484.1_Missense_Mutation_p.R1540C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1341C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1518					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGACGAACATCGTAGGAAGTC	0.438																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4618-4620)Cgt>Tgt		unc-79 homolog (C. elegans)							100	95	97					14																	94088131		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088131C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4552C>T	14.37:g.94088131C>T	ENSP00000376858:p.Arg1518Cys					UNC79_ENST00000555664.1_Missense_Mutation_p.R1518C|UNC79_ENST00000393151.2_Missense_Mutation_p.R1518C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1341C	p.R1540C			Q9P2D8	UNC79_HUMAN			31	4772	+			1518					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4618C>T		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659859	0.67586	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32753	1.5;1.44;1.51;1.5	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.44065	-0.9352	10	0.87932	D	0	-17.992	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1540	C9JQL1	.	C	1341;1518;1540;1518;1540	ENSP00000256339:R1341C;ENSP00000450868:R1518C;ENSP00000451360:R1540C;ENSP00000376858:R1518C	ENSP00000256339:R1341C	R	+	1	0	KIAA1409	93157884	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	5.717000	0.68446	2.847000	0.97988	0.591000	0.81541	CGT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		80	317	0	0	0	1	0	80	317					T	94088131	C	T	94088131	3	4	79	1	0	0	0	0	1	0	0	0	8260	884	31	1	4127	1	KIAA1409	14	94088131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43849	94088131	13261409	14929	25246											
KIAA1409	57578	broad.mit.edu	37	chr14	94155086	94155086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtggggctggcccagAttgcagccatggacatctca	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94155086A>G	ENST00000393151.2	+	45	7102	c.7102A>G	c.(7102-7104)Att>Gtt	p.I2368V	UNC79_ENST00000555664.1_Missense_Mutation_p.I2329V|UNC79_ENST00000553484.1_Missense_Mutation_p.I2390V|UNC79_ENST00000256339.4_Missense_Mutation_p.I2191V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2368					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGGCCCAGATTGCAGCCAT	0.507																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7168-7170)Att>Gtt		unc-79 homolog (C. elegans)							101	92	95					14																	94155086		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155086A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7102A>G	14.37:g.94155086A>G	ENSP00000376858:p.Ile2368Val					UNC79_ENST00000555664.1_Missense_Mutation_p.I2329V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2368V|UNC79_ENST00000256339.4_Missense_Mutation_p.I2191V	p.I2390V			Q9P2D8	UNC79_HUMAN			46	7322	+			2368					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7168A>G		.	.	.	.	.	.	.	.	.	.	A	12.22	1.873202	0.33069	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.24;2.23;2.23	5.62	3.23	0.37069	.	0.099482	0.64402	N	0.000001	T	0.09512	0.0234	N	0.17082	0.46	0.40446	D	0.980091	B	0.09022	0.002	B	0.13407	0.009	T	0.21965	-1.0230	10	0.22706	T	0.39	-13.8712	8.4765	0.33016	0.8001:0.132:0.0679:0.0	.	2390	C9JQL1	.	V	2191;2329;2390;2368;2390	ENSP00000256339:I2191V;ENSP00000450868:I2329V;ENSP00000451360:I2390V;ENSP00000376858:I2368V	ENSP00000256339:I2191V	I	+	1	0	KIAA1409	93224839	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.221000	0.65272	0.487000	0.27698	0.459000	0.35465	ATT		0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		18	352	0	0	0	1	0	18	352					G	94155086	A	G	94155086	3	3	79	1	0	0	0	0	1	0	0	0	8260	333	12	4	6737	4	KIAA1409	14	94155086	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66955	94155086	13194454	14930	25247											
KIAA1409	57578	broad.mit.edu	37	chr14	94170971	94170971	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtctttctctatacagCtgatacctatgtggttgcca	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94170971C>A	ENST00000393151.2	+	49	7666	c.7666C>A	c.(7666-7668)Ctg>Atg	p.L2556M	UNC79_ENST00000555664.1_Splice_Site_p.L2517M|UNC79_ENST00000553484.1_Splice_Site_p.L2578M|UNC79_ENST00000256339.4_Splice_Site_p.L2379M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2556					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTATACAGCTGATACCTAT	0.433																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.e50-1		unc-79 homolog (C. elegans)							175	165	168					14																	94170971		2203	4300	6503	SO:0001630	splice_region_variant	57578					integral to membrane		g.chr14:94170971C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7666-1C>A	14.37:g.94170971C>A						UNC79_ENST00000555664.1_Splice_Site_p.L2517_splice|UNC79_ENST00000393151.2_Splice_Site_p.L2556_splice|UNC79_ENST00000256339.4_Splice_Site_p.L2379_splice	p.L2578_splice			Q9P2D8	UNC79_HUMAN			50	7886	+			2556					B5MDL6|Q6ZUT7	Splice_Site	SNP	ENST00000393151.2	37	c.7731_splice		.	.	.	.	.	.	.	.	.	.	c	19.12	3.766397	0.69878	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.39406	1.09;1.14;1.08;1.09	5.77	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.64057	0.2564	M	0.73962	2.25	0.49389	D	0.999786	D	0.89917	1.0	D	0.91635	0.999	T	0.66176	-0.5989	9	.	.	.	-13.0009	14.5704	0.68208	0.0:0.9302:0.0:0.0698	.	2578	C9JQL1	.	M	2379;2517;2578;2556;2578	ENSP00000256339:L2379M;ENSP00000450868:L2517M;ENSP00000451360:L2578M;ENSP00000376858:L2556M	.	L	+	1	2	KIAA1409	93240724	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.347000	0.52200	1.436000	0.47453	0.651000	0.88453	CTG		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Missense_Mutation	73	399	1	0	7.07328e-35	1	8.4269e-35	73	399					A	94170971	C	A	94170971	5	1	79	1	0	0	0	0	0	0	1	0	8260	811	28	3	7317	3	KIAA1409	14	94170971	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15885	94170971	13178569	14931	25248											
PRIMA1	145270	broad.mit.edu	37	chr14	94187802	94187802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagactcacaccactgcGttgttcacgtctactccttt	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					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)				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)		ACACCACTGCGTTGTTCACGT	0.557																																						ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(448-450)aaC>aaT		proline rich membrane anchor 1							131	92	105					14																	94187802		2203	4300	6503	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187802G>A		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.450C>T	14.37:g.94187802G>A						PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N150N	p.N150N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	552	-		all_cancers(154;0.127)	150					Q86XR6	Silent	SNP	ENST00000393140.1	37	c.450C>T	CCDS9912.1																																																																																				0.557	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		48	171	0	0	0	1	0	48	171					A	94187802	G	A	94187802	2	1	79	1	0	0	0	0	0	0	0	1	12539	1136	40	1		1	PRIMA1	14	94187802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16831	94187802	13161738	14932	25249											
FAM181A	90050	broad.mit.edu	37	chr14	94395237	94395237	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgctcaagatgcctggggtCtccttggtgggccgcgtcaa	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.V202V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(790-792)gtC>gtA		family with sequence similarity 181, member A							53	51	51					14																	94395237		2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94395237C>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.792C>A	14.37:g.94395237C>A						FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V	p.V264V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1099	+			264					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.792C>A	CCDS9914.1																																																																																				0.622	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		20	190	1	0	2.4624e-09	1	2.59004e-09	20	190					A	94395237	C	A	94395237	2	1	79	1	0	0	0	0	0	0	0	1	5529	900	32	3		3	FAM181A	14	94395237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207435	94395237	12954303	14933	25250											
ASB2	51676	broad.mit.edu	37	chr14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacagactcgtgcagagCggtccagccgcggttgcagc	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000315988.4	-	4	1065	c.577G>A	c.(577-579)Gct>Act	p.A193T	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.A241T	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	193					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(721-723)Gct>Act		ankyrin repeat and SOCS box containing 2							74	60	64					14																	94417504		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94417504C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.577G>A	14.37:g.94417504C>T	ENSP00000320675:p.Ala193Thr					ASB2_ENST00000315988.4_Missense_Mutation_p.A193T|ASB2_ENST00000556337.1_Intron	p.A241T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1151	-		all_cancers(154;0.13)	193					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.721G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203926	0.79127	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.42	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.052587	0.85682	D	0.000000	D	0.83408	0.5248	M	0.62154	1.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.84003	0.0344	10	0.66056	D	0.02	-21.6007	19.6758	0.95932	0.0:1.0:0.0:0.0	.	209;241;193	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	241;209;193;139;139;87	ENSP00000451575:A241T;ENSP00000320675:A193T;ENSP00000450940:A139T;ENSP00000451694:A87T	ENSP00000320675:A193T	A	-	1	0	ASB2	93487257	0.998000	0.40836	0.195000	0.23364	0.494000	0.33585	3.876000	0.56115	2.644000	0.89710	0.561000	0.74099	GCT		0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			45	369	0	0	0	1	0	45	369					T	94417504	C	T	94417504	3	4	79	1	0	0	0	0	1	0	0	0	1024	768	27	1	1206	1	ASB2	14	94417504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22267	94417504	12932036	14934	25251											
ASB2	51676	broad.mit.edu	37	chr14	94417571	94417571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaatcttcacggcctcCgcgttcttgcgctcgcaggc	10	16	3	1	rs199532437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417571C>T	ENST00000315988.4	-	4	998	c.510G>A	c.(508-510)gcG>gcA	p.A170A	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Silent_p.A218A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	170					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCACGGCCTCCGCGTTCTTGC	0.622																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(652-654)gcG>gcA		ankyrin repeat and SOCS box containing 2							64	56	59					14																	94417571		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94417571C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.510G>A	14.37:g.94417571C>T						ASB2_ENST00000315988.4_Silent_p.A170A|ASB2_ENST00000556337.1_Intron	p.A218A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1084	-		all_cancers(154;0.13)	170					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.654G>A	CCDS9915.1																																																																																				0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			54	244	0	0	0	1	0	54	244					T	94417571	C	T	94417571	2	4	79	1	0	0	0	0	0	0	0	1	1024	639	23	1		1	ASB2	14	94417571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	94417571	12931969	14935	25252											
ASB2	51676	broad.mit.edu	37	chr14	94419708	94419708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctcacctttgtagagCggtgtctctcgggatttgtt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000315988.4	-	3	968	c.480G>A	c.(478-480)ccG>ccA	p.P160P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.P208P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	160			P -> S (in dbSNP:rs2295213).		intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(622-624)ccG>ccA		ankyrin repeat and SOCS box containing 2							103	113	109					14																	94419708		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94419708C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.480G>A	14.37:g.94419708C>T						ASB2_ENST00000315988.4_Silent_p.P160P|ASB2_ENST00000556337.1_Intron	p.P208P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	5	1054	-		all_cancers(154;0.13)	160					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.624G>A	CCDS9915.1																																																																																				0.572	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			118	632	0	0	0	1	0	118	632					T	94419708	C	T	94419708	2	4	79	1	0	0	0	0	0	0	0	1	1024	755	27	1		1	ASB2	14	94419708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2137	94419708	12929832	14936	25253											
DDX24	57062	broad.mit.edu	37	chr14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggattcgagcaggagCctgatgcaccagggtgagtg	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000330836.5	-	5	1677	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_ENST00000555054.1_Missense_Mutation_p.A473S|DDX24_ENST00000544005.1_Missense_Mutation_p.A266S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	516	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGGAGCCTGATGCACC	0.473																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1546-1548)Gct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 24							193	179	184					14																	94526811		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526811C>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1546G>T	14.37:g.94526811C>A	ENSP00000328690:p.Ala516Ser					DDX24_ENST00000544005.1_Missense_Mutation_p.A266S|DDX24_ENST00000555054.1_Missense_Mutation_p.A473S	p.A516S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1677	-		all_cancers(154;0.12)	516			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1546G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780661	0.31502	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04706	3.57;3.57;3.57	5.36	3.5	0.40072	DEAD-like helicase (2);	0.588254	0.19785	N	0.106136	T	0.02970	0.0088	N	0.14661	0.345	0.32623	N	0.523092	B	0.22414	0.069	B	0.26614	0.071	T	0.35101	-0.9802	10	0.12430	T	0.62	-0.1179	7.8637	0.29524	0.0:0.6935:0.1462:0.1603	.	516	Q9GZR7	DDX24_HUMAN	S	516;266;461;142;473;473	ENSP00000328690:A516S;ENSP00000440623:A266S;ENSP00000452145:A473S	ENSP00000328690:A516S	A	-	1	0	DDX24	93596564	0.908000	0.30866	0.988000	0.46212	0.653000	0.38743	0.647000	0.24812	0.713000	0.32060	0.563000	0.77884	GCT		0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		143	668	1	0	3.06621e-78	1	3.91588e-78	143	668					A	94526811	C	A	94526811	3	1	79	1	0	0	0	0	1	0	0	0	4362	739	26	3	1053	3	DDX24	14	94526811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107103	94526811	12822729	14937	25254											
DDX24	57062	broad.mit.edu	37	chr14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttggagcagtttggaCcaggttttctgatgtcatct	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000330836.5	-	2	573	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAGTTTGGACCAGGTTTTCT	0.473																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(442-444)Gtc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 24							92	96	95					14																	94545647		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545647C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.442G>A	14.37:g.94545647C>T	ENSP00000328690:p.Val148Ile					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I	p.V148I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	573	-		all_cancers(154;0.12)	148					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.442G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806722	0.16467	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03152	4.03;4.05	5.31	-3.75	0.04372	.	1.340160	0.04202	N	0.330315	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.44544	-0.9321	10	0.29301	T	0.29	-1.4457	1.0959	0.01673	0.1641:0.2669:0.2463:0.3226	.	148	Q9GZR7	DDX24_HUMAN	I	148;148;105;105	ENSP00000328690:V148I;ENSP00000452145:V105I	ENSP00000328690:V148I	V	-	1	0	DDX24	93615400	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.267000	0.08619	-0.393000	0.07739	0.650000	0.86243	GTC		0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		45	614	0	0	0	1	0	45	614					T	94545647	C	T	94545647	3	4	79	1	0	0	0	0	1	0	0	0	4362	507	18	2	2169	2	DDX24	14	94545647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18836	94545647	12803893	14938	25255											
IFI27L1	122509	broad.mit.edu	37	chr14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcagtaggaatcgccGcatcctccatagcagccaag	8	15	2	0	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000555523.1	+	4	346	c.127G>A	c.(127-129)Gca>Aca	p.A43T	IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	43						integral component of membrane (GO:0016021)				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597																																						ENST00000556381.1																			0				lung(2)	2						c.(124-126)Gca>Aca		interferon, alpha-inducible protein 27-like 1		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121	96	105		127,127	2.6	0.2	14	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense	IFI27L1	NM_145249.2,NM_206949.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	43/105,43/105	94568225	1,13005	2203	4300	6503	SO:0001583	missense	122509					integral to membrane		g.chr14:94568225G>A	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"family with sequence similarity 14, member B"	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.127G>A	14.37:g.94568225G>A	ENSP00000451851:p.Ala43Thr					IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000555523.1_Missense_Mutation_p.A43T	p.A42T			Q96BM0	I27L1_HUMAN			5	459	+			43						Missense_Mutation	SNP	ENST00000555523.1	37	c.124G>A	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739288|2.739288	0.49045|0.49045	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	3.48|3.48	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.91612|0.91612	3.225|3.225	0.39235|0.39235	D|D	0.963742|0.963742	P|.	0.47302|.	0.893|.	B|.	0.38842|.	0.283|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.66056|.	D|.	0.02|.	.|.	6.7502|6.7502	0.23483|0.23483	0.1294:0.0:0.8706:0.0|0.1294:0.0:0.8706:0.0	.|.	43|.	Q96BM0|.	I27L1_HUMAN|.	T|H	43;43;42;42;42;43|65	ENSP00000451851:A43T;ENSP00000376824:A43T;ENSP00000452226:A42T;ENSP00000451459:A42T;ENSP00000451608:A42T;ENSP00000450620:A43T|.	ENSP00000376824:A43T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637978|93637978	0.997000|0.997000	0.39634|0.39634	0.239000|0.239000	0.24122|0.24122	0.000000|0.000000	0.00434|0.00434	5.284000|5.284000	0.65627|0.65627	1.063000|1.063000	0.40649|0.40649	-0.218000|-0.218000	0.12543|0.12543	GCA|CGC		0.597	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		54	242	0	0	0	1	0	54	242					A	94568225	G	A	94568225	3	1	79	1	0	0	0	0	1	0	0	0	7543	1087	38	1	137	1	IFI27L1	14	94568225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22578	94568225	12781315	14939	25256											
IFI27	3429	broad.mit.edu	37	chr14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgtcctccatagcagccaaGatgatgtccgcggcggccat	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000555744.1	+	4	386	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	66					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627																																					GBM(128;797 1667 20895 29868 47129)	ENST00000555744.1																			0				breast(1)|lung(3)	4						c.(196-198)aaG>aaT		interferon, alpha-inducible protein 27							38	30	33					14																	94582203		2203	4299	6502	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582203G>T	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.198G>T	14.37:g.94582203G>T	ENSP00000451956:p.Lys66Asn					IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N	p.K66N			P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	4	386	+			66					Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	37	c.198G>T	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859737	0.17178	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	3.52	1.67	0.24075	.	0.553031	0.19684	N	0.108458	T	0.53351	0.1791	M	0.83692	2.655	0.39283	D	0.964603	D	0.63880	0.993	D	0.63192	0.912	T	0.55186	-0.8180	10	0.66056	D	0.02	.	5.5879	0.17285	0.2502:0.0:0.7498:0.0	.	66	P40305	IFI27_HUMAN	N	69;69;21;66;66;56;66	ENSP00000413536:K69N;ENSP00000410901:K69N;ENSP00000450753:K21N;ENSP00000451875:K66N;ENSP00000298902:K66N;ENSP00000452560:K56N;ENSP00000451956:K66N	ENSP00000298902:K66N	K	+	3	2	IFI27	93651956	0.001000	0.12720	0.997000	0.53966	0.032000	0.12392	-0.770000	0.04705	0.475000	0.27415	0.563000	0.77884	AAG		0.627	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		11	60	1	0	1.08611e-07	1	1.12939e-07	11	60					T	94582203	G	T	94582203	3	4	79	1	0	0	0	0	1	0	0	0	7542	933	33	3	208	3	IFI27	14	94582203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13978	94582203	12767337	14940	25257											
PPP4R4	57718	broad.mit.edu	37	chr14	94711935	94711935	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaggtactagatgcTcttatagatcatcttccaga	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	452					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1354-1356)gcT>gcA		protein phosphatase 4, regulatory subunit 4							88	90	89					14																	94711935		2203	4299	6502	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94711935T>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1356T>A	14.37:g.94711935T>A							p.A452A	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			13	1510	+			452					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.1356T>A	CCDS9921.1																																																																																				0.313	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		43	200	0	0	0	1	0	43	200					A	94711935	T	A	94711935	2	1	79	1	0	0	0	0	0	0	0	1	12452	1538	54	5		5	PPP4R4	14	94711935	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	129732	94711935	12637605	14941	25258											
PPP4R4	57718	broad.mit.edu	37	chr14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagatttgttggatcaAgagaaagaaagagaagaact	12	2	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	697					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAA	0.274																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(2089-2091)caA>caC		protein phosphatase 4, regulatory subunit 4							27	29	28					14																	94725670		2189	4287	6476	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94725670A>C	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2091A>C	14.37:g.94725670A>C	ENSP00000305924:p.Gln697His						p.Q697H	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			19	2245	+			697					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.2091A>C	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326833	0.60743	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.09	3.76	0.43208	.	0.217642	0.40728	N	0.001033	T	0.69424	0.3109	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71213	-0.4659	9	0.66056	D	0.02	-13.8615	7.9117	0.29796	0.8219:0.0:0.1781:0.0	.	697	Q6NUP7	PP4R4_HUMAN	H	697	.	ENSP00000305924:Q697H	Q	+	3	2	PPP4R4	93795423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.117000	0.41939	2.028000	0.59812	0.377000	0.23210	CAA		0.274	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		21	102	0	0	0	1	0	21	102					C	94725670	A	C	94725670	3	2	79	1	0	0	0	0	1	0	0	0	12452	69	3	4	2238	4	PPP4R4	14	94725670	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13735	94725670	12623870	14942	25259											
SERPINA10	51156	broad.mit.edu	37	chr14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatctgggtttcagtcGgccctgtggcccccagcatc	11	14	3	1	rs370404211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000393096.1	-	2	821	c.356C>T	c.(355-357)cCg>cTg	p.P119L	SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.P159L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	119					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.001					ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(475-477)cCg>cTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							49	50	50					14																	94756575		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756575G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.356C>T	14.37:g.94756575G>A	ENSP00000376809:p.Pro119Leu					SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P119L	p.P159L			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	894	-		all_cancers(154;0.105)	119					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.476C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965782	0.02249	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.12	-1.12	0.09808	Serpin domain (3);	1.226040	0.05781	N	0.608681	T	0.81361	0.4806	L	0.42245	1.32	0.09310	N	1	B	0.21606	0.058	B	0.08055	0.003	T	0.64449	-0.6405	10	0.45353	T	0.12	.	8.1594	0.31190	0.125:0.0:0.4412:0.4338	.	119	Q9UK55	ZPI_HUMAN	L	159;119;119;119	ENSP00000450896:P159L;ENSP00000376809:P119L;ENSP00000261994:P119L;ENSP00000450971:P119L	ENSP00000261994:P119L	P	-	2	0	SERPINA10	93826328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.410000	0.07542	-2.087000	0.00375	CCG		0.587	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		52	241	0	0	0	1	0	52	241					A	94756575	G	A	94756575	3	1	79	1	0	0	0	0	1	0	0	0	14137	1116	39	1	994	1	SERPINA10	14	94756575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30905	94756575	12592965	14943	25260											
SERPINA6	866	broad.mit.edu	37	chr14	94770780	94770780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcataaccctcgccAggaaaaggctgctccaggtg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94770780A>G	ENST00000341584.3	-	5	1339	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	398					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)			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)	AACCCTCGCCAGGAAAAGGCT	0.532																																						ENST00000341584.3																			0				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						c.(1192-1194)cTg>cCg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	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)						139	121	127					14																	94770780		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770780A>G	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.1193T>C	14.37:g.94770780A>G	ENSP00000342850:p.Leu398Pro						p.L398P	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1339	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	398					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.1193T>C	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669831	0.47677	.	.	ENSG00000170099	ENST00000341584	D	0.85629	-2.01	4.83	4.83	0.62350	Serpin domain (3);	0.409870	0.20102	N	0.099210	D	0.93687	0.7983	M	0.93062	3.375	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.87932	D	0	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	398	P08185	CBG_HUMAN	P	398	ENSP00000342850:L398P	ENSP00000342850:L398P	L	-	2	0	SERPINA6	93840533	0.995000	0.38212	0.077000	0.20336	0.133000	0.20885	6.149000	0.71795	2.164000	0.68074	0.533000	0.62120	CTG		0.532	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		10	352	0	0	0	1	0	10	352					G	94770780	A	G	94770780	3	3	79	1	0	0	0	0	1	0	0	0	14143	188	7	4	28	4	SERPINA6	14	94770780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14205	94770780	12578760	14944	25261											
SERPINA1	5265	broad.mit.edu	37	chr14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtggcattgcccaggTatttcatcagcagcacccag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	268					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATTGCCCAGGTATTTCATCAG	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(802-804)tAc>tGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						139	118	125					14																	94847322		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847322T>C	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.803A>G	14.37:g.94847322T>C	ENSP00000416066:p.Tyr268Cys					SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C	p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1375	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	268					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.803A>G	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433713	0.43224	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.05	5.05	0.67936	Serpin domain (3);	0.197104	0.35179	N	0.003382	D	0.95326	0.8483	M	0.93638	3.44	0.48830	D	0.999713	D;D	0.56521	0.97;0.976	P;D	0.63793	0.809;0.918	D	0.96388	0.9287	10	0.87932	D	0	.	14.0833	0.64939	0.0:0.0:0.0:1.0	.	268;268	P01009-2;P01009	.;A1AT_HUMAN	C	268	ENSP00000390299:Y268C;ENSP00000416066:Y268C;ENSP00000408474:Y268C;ENSP00000348068:Y268C;ENSP00000376802:Y268C;ENSP00000376803:Y268C;ENSP00000385960:Y268C;ENSP00000416354:Y268C;ENSP00000386094:Y268C	ENSP00000348068:Y268C	Y	-	2	0	SERPINA1	93917075	1.000000	0.71417	0.076000	0.20297	0.163000	0.22366	3.694000	0.54742	2.051000	0.60960	0.374000	0.22700	TAC		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		56	297	0	0	0	1	0	56	297					C	94847322	T	C	94847322	3	2	79	1	0	0	0	0	1	0	0	0	14136	1638	57	4	465	4	SERPINA1	14	94847322	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	76542	94847322	12502218	14945	25262											
SERPINA9	327657	broad.mit.edu	37	chr14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctccactttctcagtgttCtggctgacaaggcctgttcc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000380365.3	-	3	944	c.866G>A	c.(865-867)aGa>aAa	p.R289K	SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R307K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(919-921)aGa>aAa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							113	108	110					14																	94933482		2001	4197	6198	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933482C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.866G>A	14.37:g.94933482C>T	ENSP00000369723:p.Arg289Lys					SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K	p.R307K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	994	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	289					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.920G>A		.	.	.	.	.	.	.	.	.	.	C	10.05	1.243737	0.22796	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.89	1.83	0.25207	Serpin domain (3);	0.695785	0.13348	N	0.394612	T	0.63827	0.2544	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.0;0.0;0.0;0.012	B;B;B;B;B	0.14023	0.007;0.004;0.001;0.003;0.01	T	0.49351	-0.8949	10	0.25106	T	0.35	.	4.7624	0.13115	0.0:0.4258:0.4239:0.1503	.	271;289;209;307;207	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	K	209;207;158;307;289;271	ENSP00000414092:R209K;ENSP00000298845:R207K;ENSP00000409012:R158K;ENSP00000337133:R307K;ENSP00000369723:R289K;ENSP00000445476:R271K	ENSP00000298845:R207K	R	-	2	0	SERPINA9	94003235	0.000000	0.05858	0.055000	0.19348	0.965000	0.64279	0.080000	0.14802	0.972000	0.38314	0.462000	0.41574	AGA		0.537	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		59	278	0	0	0	1	0	59	278					T	94933482	C	T	94933482	3	4	79	1	0	0	0	0	1	0	0	0	14145	913	32	2	399	2	SERPINA9	14	94933482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86160	94933482	12416058	14946	25263											
SERPINA9	327657	broad.mit.edu	37	chr14	94935809	94935809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaggtctttgctgggAacagtcagtgagtgaaccag	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000380365.3	-	2	447	c.369T>C	c.(367-369)gtT>gtC	p.V123V	SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000337425.5_Silent_p.V141V			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	123					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTGCTGGGAACAGTCAGTG	0.547																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(421-423)gtT>gtC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							126	127	126					14																	94935809		2068	4222	6290	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935809A>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.369T>C	14.37:g.94935809A>G						SERPINA9_ENST00000380365.3_Silent_p.V123V|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V	p.V141V	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	497	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	123					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.423T>C																																																																																					0.547	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		15	708	0	0	0	1	0	15	708					G	94935809	A	G	94935809	2	3	79	1	0	0	0	0	0	0	0	1	14145	233	9	4		4	SERPINA9	14	94935809	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	94935809	12413731	14947	25264											
SERPINA12	145264	broad.mit.edu	37	chr14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatctggagaaagtgTccacctgcaatcccttctcc	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	290					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		GGAGAAAGTGTCCACCTGCAA	0.478																																						ENST00000341228.2																			0				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						c.(868-870)gAc>gGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							172	164	167					14																	94962746		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962746T>C	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.869A>G	14.37:g.94962746T>C	ENSP00000342109:p.Asp290Gly					SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1664	-			290						Missense_Mutation	SNP	ENST00000341228.2	37	c.869A>G	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805753	0.31961	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Serpin domain (3);	0.373627	0.25804	N	0.028183	T	0.81922	0.4925	M	0.62088	1.915	0.24392	N	0.994748	B	0.30068	0.267	B	0.34722	0.188	T	0.73799	-0.3869	10	0.41790	T	0.15	.	5.974	0.19369	0.1464:0.0786:0.0:0.775	.	290	Q8IW75	SPA12_HUMAN	G	290	ENSP00000451738:D290G;ENSP00000342109:D290G	ENSP00000342109:D290G	D	-	2	0	SERPINA12	94032499	0.155000	0.22806	0.026000	0.17262	0.005000	0.04900	3.341000	0.52151	2.074000	0.62210	0.459000	0.35465	GAC		0.478	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		110	453	0	0	0	1	0	110	453					C	94962746	T	C	94962746	3	2	79	1	0	0	0	0	1	0	0	0	14139	1667	58	4	387	4	SERPINA12	14	94962746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26937	94962746	12386794	14948	25265											
SERPINA5	5104	broad.mit.edu	37	chr14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaagtgccatgaagacgCtgtacctggcagacactttc	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000554866.1	+	2	568	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	152					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(454-456)Ctg>Atg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						93	79	84					14																	95054153		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054153C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.454C>A	14.37:g.95054153C>A	ENSP00000451126:p.Leu152Met					SERPINA5_ENST00000554866.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M	p.L152M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	664	+			152					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.454C>A	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308874	0.40895	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	3.74	-2.4	0.06583	Serpin domain (3);	0.443348	0.18646	N	0.135143	D	0.84754	0.5542	M	0.65320	2	0.09310	N	1	B;P	0.45212	0.263;0.853	B;P	0.54924	0.258;0.764	T	0.76247	-0.3029	10	0.66056	D	0.02	.	4.7179	0.12904	0.4759:0.2975:0.0:0.2266	.	152;152	G3V5Q9;P05154	.;IPSP_HUMAN	M	152;152;152;152;152;152;4;76;152;152	ENSP00000450484:L152M;ENSP00000450837:L152M;ENSP00000452469:L152M;ENSP00000451126:L152M;ENSP00000333203:L152M;ENSP00000450745:L152M;ENSP00000451610:L152M;ENSP00000450485:L152M	ENSP00000333203:L152M	L	+	1	2	SERPINA5	94123906	0.000000	0.05858	0.042000	0.18584	0.019000	0.09904	-0.517000	0.06275	-0.244000	0.09639	-1.383000	0.01170	CTG		0.532	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		48	206	1	0	4.62893e-10	1	4.89299e-10	48	206					A	95054153	C	A	95054153	3	1	79	1	0	0	0	0	1	0	0	0	14142	796	28	3	456	3	SERPINA5	14	95054153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91407	95054153	12295387	14949	25266											
SERPINA5	5104	broad.mit.edu	37	chr14	95054179	95054179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagacactttccctacCaactttagggactctgcagg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000554866.1	+	2	594	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000329597.7_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	160					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(478-480)acC>acT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						87	77	80					14																	95054179		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054179C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.480C>T	14.37:g.95054179C>T						SERPINA5_ENST00000554866.1_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T	p.T160T	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	690	+			160					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.480C>T	CCDS9928.1																																																																																				0.512	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		44	259	0	0	0	1	0	44	259					T	95054179	C	T	95054179	2	4	79	1	0	0	0	0	0	0	0	1	14142	581	21	2		2	SERPINA5	14	95054179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	95054179	12295361	14950	25267											
SERPINA5	5104	broad.mit.edu	37	chr14	95056472	95056472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtacccatgatgagccgCgaggatcagtatcactacct	11	12	2	2	rs369065976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000554866.1	+	3	828	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000329597.7_Silent_p.R238R|SERPINA5_ENST00000553780.1_Silent_p.R238R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000554276.1_Silent_p.R238R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	238					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(712-714)cgC>cgT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	C		0,4406		0,0,2203	86	78	81		714	-9.4	0	14		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINA5	NM_000624.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/407	95056472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95056472C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.714C>T	14.37:g.95056472C>T						SERPINA5_ENST00000554866.1_Silent_p.R238R|SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000554276.1_Silent_p.R238R	p.R238R	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	4	924	+			238					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.714C>T	CCDS9928.1																																																																																				0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		41	193	0	0	0	1	0	41	193					T	95056472	C	T	95056472	2	4	79	1	0	0	0	0	0	0	0	1	14142	755	27	1		1	SERPINA5	14	95056472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	95056472	12293068	14951	25268											
SERPINA3	12	broad.mit.edu	37	chr14	95090073	95090073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtgcgtttcaacaggccCttcctgatgatcattgtccc	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000467132.1	+	5	2342	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	SERPINA3_ENST00000482740.1_Silent_p.P180P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACAGGCCCTTCCTGATGA	0.498																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(1267-1269)ccC>ccA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							209	180	190					14																	95090073		2203	4300	6503	SO:0001819	synonymous_variant	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95090073C>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1194C>A	14.37:g.95090073C>A						SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000467132.1_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P	p.P423P			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	8	2157	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	398					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	c.1269C>A	CCDS32150.1																																																																																				0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		12	652	1	0	0.00010058	1	0.000102273	12	652					A	95090073	C	A	95090073	2	1	79	1	0	0	0	0	0	0	0	1	14140	668	24	3		3	SERPINA3	14	95090073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33601	95090073	12259467	14952	25269											
DICER1	23405	broad.mit.edu	37	chr14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctcaggagagacagctTtgaagtacttgtggtagtcg	14	6	1	3	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1759	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5275-5277)aAa>aGa		dicer 1, ribonuclease type III		T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	145	135	138		5276,5276,5276	5.3	0.7	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	26,26,26	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	1759/1830,1759/1923,1759/1923	95560313	2,13004	2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560313T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5276A>G	14.37:g.95560313T>C	ENSP00000437256:p.Lys1759Arg					DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R	p.K1759R			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5567	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1759			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5276A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893633	0.52121	2.27E-4	1.16E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	N	0.04994	-0.135	0.80722	D	1	B;D	0.76494	0.301;0.999	B;D	0.83275	0.144;0.996	T	0.65479	-0.6158	10	0.02654	T	1	-26.0429	15.2459	0.73507	0.0:0.0:0.0:1.0	.	657;1759	B3KRG4;Q9UPY3	.;DICER_HUMAN	R	1759;1759;1759;1759;657;1759	ENSP00000343745:K1759R;ENSP00000437256:K1759R;ENSP00000376783:K1759R;ENSP00000435681:K1759R;ENSP00000451041:K657R;ENSP00000444719:K1759R	ENSP00000343745:K1759R	K	-	2	0	DICER1	94630066	1.000000	0.71417	0.738000	0.30950	0.984000	0.73092	7.630000	0.83225	1.998000	0.58463	0.533000	0.62120	AAA		0.493	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			116	483	0	0	0	1	0	116	483					C	95560313	T	C	95560313	3	2	79	1	0	0	0	0	1	0	0	0	4537	1841	64	4	508	4	DICER1	14	95560313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470240	95560313	11789227	14953	25270											
DICER1	23405	broad.mit.edu	37	chr14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatattgacaccaccatgCggctgggtagtcccttcttt	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1368	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(4102-4104)cGc>cAc		dicer 1, ribonuclease type III							148	139	142					14																	95566220		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95566220C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4103G>A	14.37:g.95566220C>T	ENSP00000437256:p.Arg1368His					DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H	p.R1368H			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	4394	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1368			RNase III 1.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4103G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941045	0.92526	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.989	T	0.74435	-0.3666	10	0.15952	T	0.53	-18.6466	20.2985	0.98592	0.0:1.0:0.0:0.0	.	266;1368;1368	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1368;1368;1368;1368;266;1368	ENSP00000343745:R1368H;ENSP00000437256:R1368H;ENSP00000376783:R1368H;ENSP00000435681:R1368H;ENSP00000451041:R266H;ENSP00000444719:R1368H	ENSP00000343745:R1368H	R	-	2	0	DICER1	94635973	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGC		0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			90	385	0	0	0	1	0	90	385					T	95566220	C	T	95566220	3	4	79	1	0	0	0	0	1	0	0	0	4537	768	27	1	1689	1	DICER1	14	95566220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5907	95566220	11783320	14954	25271											
DICER1	23405	broad.mit.edu	37	chr14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttccatctgaggtagatTtgttagcatttccatcaagg	9	8	2	2	rs527872690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1249					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3745-3747)aAa>aCa		dicer 1, ribonuclease type III							147	137	140					14																	95569987		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95569987T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3746A>C	14.37:g.95569987T>G	ENSP00000437256:p.Lys1249Thr					DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T	p.K1249T			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	23	4037	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1249					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3746A>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220878	0.39201	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.88046	0.3;0.3;0.3;0.3;-2.33;0.61	5.42	-10.7	0.00240	.	1.103310	0.06649	N	0.762409	T	0.69278	0.3093	N	0.08118	0	0.32462	N	0.543931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46624	-0.9178	10	0.16420	T	0.52	-0.1329	14.2372	0.65934	0.0:0.1201:0.6567:0.2232	.	147;1249;1249	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	T	1249;1249;1249;1249;147;1249	ENSP00000343745:K1249T;ENSP00000437256:K1249T;ENSP00000376783:K1249T;ENSP00000435681:K1249T;ENSP00000451041:K147T;ENSP00000444719:K1249T	ENSP00000343745:K1249T	K	-	2	0	DICER1	94639740	0.926000	0.31397	0.456000	0.27044	0.997000	0.91878	-0.044000	0.12023	-2.268000	0.00685	0.459000	0.35465	AAA		0.453	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			109	482	0	0	0	1	0	109	482					G	95569987	T	G	95569987	3	3	79	1	0	0	0	0	1	0	0	0	4537	1841	64	4	2050	4	DICER1	14	95569987	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	95569987	11779553	14955	25272											
DICER1	23405	broad.mit.edu	37	chr14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtgatctgactcccaCgccagcatcgctggcagtct	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1080					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGACTCCCACGCCAGCATCG	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3238-3240)Gtg>Atg		dicer 1, ribonuclease type III							97	100	99					14																	95571439		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571439C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3238G>A	14.37:g.95571439C>T	ENSP00000437256:p.Val1080Met					DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A	p.V1080M			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3529	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1080					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3238G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539243	0.85917	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.4	5.65	4.74	0.60224	.	0.059006	0.64402	D	0.000002	T	0.69024	0.3065	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.72207	-0.4360	10	0.62326	D	0.03	-15.7828	16.3846	0.83500	0.0:0.868:0.132:0.0	.	1080	Q9UPY3	DICER_HUMAN	M	1080	ENSP00000343745:V1080M;ENSP00000437256:V1080M;ENSP00000376783:V1080M;ENSP00000435681:V1080M;ENSP00000444719:V1080M	ENSP00000343745:V1080M	V	-	1	0	DICER1	94641192	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.786000	0.85741	1.343000	0.45638	0.462000	0.41574	GTG		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			29	589	0	0	0	1	0	29	589					T	95571439	C	T	95571439	3	4	79	1	0	0	0	0	1	0	0	0	4537	536	19	1	2562	1	DICER1	14	95571439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	95571439	11778101	14956	25273											
DICER1	23405	broad.mit.edu	37	chr14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacatcagctacataaaatCgatgaggctgatcaaaattg	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	944	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2830-2832)cGa>cAa		dicer 1, ribonuclease type III							73	78	76					14																	95572534		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572534C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2831G>A	14.37:g.95572534C>T	ENSP00000437256:p.Arg944Gln					DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q	p.R944Q			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3122	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	944			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2831G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452143	0.84209	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00308	-1.1829	10	0.30078	T	0.28	-9.8467	19.5062	0.95116	0.0:1.0:0.0:0.0	.	944	Q9UPY3	DICER_HUMAN	Q	944	ENSP00000343745:R944Q;ENSP00000437256:R944Q;ENSP00000376783:R944Q;ENSP00000435681:R944Q;ENSP00000444719:R944Q	ENSP00000343745:R944Q	R	-	2	0	DICER1	94642287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.604000	0.88044	0.655000	0.94253	CGA		0.308	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			73	375	0	0	0	1	0	73	375					T	95572534	C	T	95572534	3	4	79	1	0	0	0	0	1	0	0	0	4537	884	31	1	2977	1	DICER1	14	95572534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1095	95572534	11777006	14957	25274											
DICER1	23405	broad.mit.edu	37	chr14	95582075	95582075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctcaacacatatggTgggaaaacgtcatcatcatc	8	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	612					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1834-1836)ccA>ccG		dicer 1, ribonuclease type III							252	191	212					14																	95582075		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582075T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1836A>G	14.37:g.95582075T>C						DICER1_ENST00000393063.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P	p.P612P			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	13	2127	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	612					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.1836A>G	CCDS9931.1																																																																																				0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			84	343	0	0	0	1	0	84	343					C	95582075	T	C	95582075	2	2	79	1	0	0	0	0	0	0	0	1	4537	1683	59	4		4	DICER1	14	95582075	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9541	95582075	11767465	14958	25275											
DICER1	23405	broad.mit.edu	37	chr14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgatgtatttctgtagttCtcttaccatcattccagcta	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	328	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTGTAGTTCTCTTACCATC	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(982-984)Gaa>Taa		dicer 1, ribonuclease type III							95	94	94					14																	95590927		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590927C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.982G>T	14.37:g.95590927C>A	ENSP00000437256:p.Glu328*					DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*	p.E328*			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1273	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	328			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	37	c.982G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909045	0.98998	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.7842	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000343745:E328X	E	-	1	0	DICER1	94660680	1.000000	0.71417	0.656000	0.29637	0.992000	0.81027	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GAA		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			19	445	1	0	1.00905e-13	1	1.09121e-13	19	445					A	95590927	C	A	95590927	4	1	79	1	0	0	0	0	0	1	0	0	4537	922	32	3	4866	3	DICER1	14	95590927	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8852	95590927	11758613	14959	25276											
DICER1	23405	broad.mit.edu	37	chr14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttcaaaacattcaaggCgacatagcaagtcataatga	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	155	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(463-465)Gcc>Acc		dicer 1, ribonuclease type III							87	73	77					14																	95596505		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95596505C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.463G>A	14.37:g.95596505C>T	ENSP00000437256:p.Ala155Thr					DICER1_ENST00000393063.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T	p.A155T			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	7	754	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	155			Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.463G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395293	0.62066	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142483	0.64402	D	0.000005	T	0.11879	0.0289	N	0.17082	0.46	0.41634	D	0.98903	P	0.37663	0.604	B	0.32980	0.156	T	0.05767	-1.0865	10	0.87932	D	0	-14.1645	14.9169	0.70805	0.1431:0.8569:0.0:0.0	.	155	Q9UPY3	DICER_HUMAN	T	155	ENSP00000343745:A155T;ENSP00000437256:A155T;ENSP00000376783:A155T;ENSP00000435681:A155T;ENSP00000444719:A155T	ENSP00000343745:A155T	A	-	1	0	DICER1	94666258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	2.753000	0.94483	0.650000	0.86243	GCC		0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			15	136	0	0	0	1	0	15	136					T	95596505	C	T	95596505	3	4	79	1	0	0	0	0	1	0	0	0	4537	768	27	1	5397	1	DICER1	14	95596505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	95596505	11753035	14960	25277											
C14orf49	161176	broad.mit.edu	37	chr14	95921720	95921720	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcacgcttaccgagtaGcgtctccagtgtgccaccag	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95921720G>T	ENST00000334258.5	-	5	1145	c.1131C>A	c.(1129-1131)cgC>cgA	p.R377R	SYNE3_ENST00000557275.1_Silent_p.R377R|SYNE3_ENST00000553340.1_Silent_p.R377R|SYNE3_ENST00000554873.1_Silent_p.R134R	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	377					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTACCGAGTAGCGTCTCCAGT	0.642																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1129-1131)cgC>cgA		spectrin repeat containing, nuclear envelope family member 3							28	31	30					14																	95921720		2202	4299	6501	SO:0001819	synonymous_variant	161176							g.chr14:95921720G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1131C>A	14.37:g.95921720G>T						SYNE3_ENST00000557275.1_Silent_p.R377R|SYNE3_ENST00000553340.1_Silent_p.R377R|SYNE3_ENST00000554873.1_Silent_p.R134R	p.R377R	NM_152592.3	NP_689805.3					5	1145	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1131C>A	CCDS9935.1																																																																																				0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		34	164	1	0	4.31634e-10	1	4.56678e-10	34	164					T	95921720	G	T	95921720	2	4	79	1	0	0	0	0	0	0	0	1	1781	958	34	3		3	C14orf49	14	95921720	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325215	95921720	11427820	14961	25278											
ATG2B	55102	broad.mit.edu	37	chr14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaatgggaacttctgacGtgaatctaaattctctgaag	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1814					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTTCTGACGTGAATCTAAA	0.308																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5440-5442)aCg>aTg		autophagy related 2B							115	117	117					14																	96758421		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96758421G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5441C>T	14.37:g.96758421G>A	ENSP00000353010:p.Thr1814Met					ATG2B_ENST00000261834.5_5'UTR	p.T1814M	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	37	6334	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1814					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5441C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944723	0.73672	.	.	ENSG00000066739	ENST00000359933	T	0.10960	2.82	5.14	3.31	0.37934	.	0.050873	0.85682	D	0.000000	T	0.25082	0.0609	L	0.56769	1.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.00579	-1.1661	10	0.32370	T	0.25	.	10.3739	0.44071	0.1366:0.0:0.8634:0.0	.	1814	Q96BY7	ATG2B_HUMAN	M	1814	ENSP00000353010:T1814M	ENSP00000261834:T458M	T	-	2	0	ATG2B	95828174	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	4.832000	0.62759	0.652000	0.30806	0.655000	0.94253	ACG		0.308	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		62	316	0	0	0	1	0	62	316					A	96758421	G	A	96758421	3	1	79	1	0	0	0	0	1	0	0	0	1095	1145	40	1	819	1	ATG2B	14	96758421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	836701	96758421	10591119	14962	25279											
ATG2B	55102	broad.mit.edu	37	chr14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaatgagattcattaacGcagcacaagagtctgagcac	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1355					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATTAACGCAGCACAAGA	0.458																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4063-4065)gCg>gTg		autophagy related 2B							186	176	179					14																	96777551		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96777551G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4064C>T	14.37:g.96777551G>A	ENSP00000353010:p.Ala1355Val					ATG2B_ENST00000261834.5_5'UTR	p.A1355V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	28	4957	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1355					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4064C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968575	0.74131	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	.	0.104808	0.64402	D	0.000004	T	0.40645	0.1125	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.30854	T	0.27	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1355	Q96BY7	ATG2B_HUMAN	V	1355	ENSP00000353010:A1355V	ENSP00000353010:A1355V	A	-	2	0	ATG2B	95847304	1.000000	0.71417	0.881000	0.34555	0.567000	0.35839	9.134000	0.94467	2.576000	0.86940	0.655000	0.94253	GCG		0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		117	529	0	0	0	1	0	117	529					A	96777551	G	A	96777551	3	1	79	1	0	0	0	0	1	0	0	0	1095	1087	38	1	2232	1	ATG2B	14	96777551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19130	96777551	10571989	14963	25280											
ATG2B	55102	broad.mit.edu	37	chr14	96789073	96789073	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttattttcagtacaattCtgatagcaaagacaatttta	5	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTACAATTCTGATAGCAAA	0.358																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.e17-1		autophagy related 2B							94	85	88					14																	96789073		1839	4092	5931	SO:0001630	splice_region_variant	55102							g.chr14:96789073C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2541-1G>T	14.37:g.96789073C>A								NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	17	3434	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	SNP	ENST00000359933.4	37		CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516160	0.64634	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95858826	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.270000	0.78493	2.679000	0.91253	0.655000	0.94253	.		0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	48	204	1	0	5.34276e-22	1	6.03513e-22	48	204					A	96789073	C	A	96789073	5	1	79	1	0	0	0	0	0	0	1	0	1095	927	32	3	3800	3	ATG2B	14	96789073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11522	96789073	10560467	14964	25281											
ATG2B	55102	broad.mit.edu	37	chr14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccctctattctcagAatgcttataatgaagctgaa	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	652					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATTCTCAGAATGCTTATAA	0.333																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1954-1956)Tct>Gct		autophagy related 2B							69	64	65					14																	96795031		1800	4077	5877	SO:0001583	missense	55102							g.chr14:96795031A>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1954T>G	14.37:g.96795031A>C	ENSP00000353010:p.Ser652Ala						p.S652A	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	13	2847	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	652					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1954T>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716959	0.48622	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.84	5.84	0.93424	.	0.549872	0.16658	U	0.204891	T	0.15478	0.0373	M	0.62723	1.935	0.33735	D	0.618764	B	0.10296	0.003	B	0.06405	0.002	T	0.06752	-1.0809	10	0.30854	T	0.27	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	652	Q96BY7	ATG2B_HUMAN	A	652	ENSP00000353010:S652A	ENSP00000353010:S652A	S	-	1	0	ATG2B	95864784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.243000	0.73865	0.482000	0.46254	TCT		0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		47	258	0	0	0	1	0	47	258					C	96795031	A	C	96795031	3	2	79	1	0	0	0	0	1	0	0	0	1095	246	9	4	4402	4	ATG2B	14	96795031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5958	96795031	10554509	14965	25282											
ATG2B	55102	broad.mit.edu	37	chr14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagagccccatggaactgAcagggaaattgactgaatga	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	80					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATGGAACTGACAGGGAAATT	0.458																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(238-240)Tca>Cca		autophagy related 2B							98	97	97					14																	96813603		1966	4172	6138	SO:0001583	missense	55102							g.chr14:96813603A>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.238T>C	14.37:g.96813603A>G	ENSP00000353010:p.Ser80Pro						p.S80P	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	2	1131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	80					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.238T>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720166	0.68844	.	.	ENSG00000066739	ENST00000359933	D	0.83163	-1.69	5.39	5.39	0.77823	.	0.082874	0.49916	U	0.000134	D	0.88923	0.6569	M	0.71581	2.175	0.45227	D	0.998237	D	0.60575	0.988	P	0.59357	0.856	D	0.89978	0.4098	10	0.62326	D	0.03	.	15.3981	0.74812	1.0:0.0:0.0:0.0	.	80	Q96BY7	ATG2B_HUMAN	P	80	ENSP00000353010:S80P	ENSP00000353010:S80P	S	-	1	0	ATG2B	95883356	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.667000	0.68067	2.046000	0.60703	0.459000	0.35465	TCA		0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		32	183	0	0	0	1	0	32	183					G	96813603	A	G	96813603	3	3	79	1	0	0	0	0	1	0	0	0	1095	275	10	4	6162	4	ATG2B	14	96813603	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18572	96813603	10535937	14966	25283											
C14orf129	51527	broad.mit.edu	37	chr14	96848753	96848753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtttgtctcgaaaagcCtgcggtgtgcggatgatgtg	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96848753C>T	ENST00000556095.1	+	3	1981	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	GSKIP_ENST00000554182.1_Silent_p.L57L|GSKIP_ENST00000555181.1_Silent_p.L57L|GSKIP_ENST00000438650.1_Silent_p.L57L|RNU2-33P_ENST00000410344.1_RNA	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	57						cytoplasm (GO:0005737)											CTCGAAAAGCCTGCGGTGTGC	0.433																																						ENST00000556095.1																			0											c.(169-171)Ctg>Ttg		GSK3B interacting protein							161	154	157					14																	96848753		2203	4300	6503	SO:0001819	synonymous_variant	51527							g.chr14:96848753C>T	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"GSK3beta interaction protein"		"chromosome 14 open reading frame 129"	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.169C>T	14.37:g.96848753C>T						GSKIP_ENST00000554182.1_Silent_p.L57L|GSKIP_ENST00000438650.1_Silent_p.L57L|GSKIP_ENST00000555181.1_Silent_p.L57L	p.L57L	NM_001271904.1	NP_001258833.1					3	1981	+								B3KSZ0|Q9BST1|Q9NWK0	Silent	SNP	ENST00000556095.1	37	c.169C>T	CCDS32153.1																																																																																				0.433	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		79	387	0	0	0	1	0	79	387					T	96848753	C	T	96848753	2	4	79	1	0	0	0	0	0	0	0	1	1749	680	24	2		2	C14orf129	14	96848753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35150	96848753	10500787	14967	25284											
AK7	122481	broad.mit.edu	37	chr14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaagaccttctcatgcGcctgctggagtgtgatgtta	12	9	1	3	rs373883064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(322-324)cGc>cAc		adenylate kinase 7							93	87	89					14																	96871122		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96871122G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.323G>A	14.37:g.96871122G>A	ENSP00000267584:p.Arg108His					AK7_ENST00000554313.1_3'UTR	p.R108H	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	3	367	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	108					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.323G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	AK7	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC		0.433	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			38	189	0	0	0	1	0	38	189					A	96871122	G	A	96871122	3	1	79	1	0	0	0	0	1	0	0	0	444	1087	38	1	333	1	AK7	14	96871122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22369	96871122	10478418	14968	25285											
AK7	122481	broad.mit.edu	37	chr14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttataataggaggaTtctgaggttccattcactga	8	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	168					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(502-504)gaT>gaG		adenylate kinase 7							64	67	66					14																	96887164		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96887164T>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.504T>G	14.37:g.96887164T>G	ENSP00000267584:p.Asp168Glu					AK7_ENST00000554313.1_3'UTR	p.D168E	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	5	548	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	168					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.504T>G	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021001	0.54576	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	-3.58	0.04597	NAD(P)-binding domain (1);	0.107337	0.64402	D	0.000009	T	0.72236	0.3435	M	0.84585	2.705	0.26550	N	0.973937	D	0.55605	0.972	P	0.58013	0.831	T	0.70270	-0.4918	10	0.72032	D	0.01	-40.7125	11.2731	0.49150	0.0:0.4445:0.0:0.5555	.	168	Q96M32	KAD7_HUMAN	E	168	ENSP00000267584:D168E	ENSP00000267584:D168E	D	+	3	2	AK7	95956917	0.024000	0.19004	0.001000	0.08648	0.187000	0.23431	0.008000	0.13197	-0.996000	0.03455	-0.441000	0.05720	GAT		0.343	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			50	241	0	0	0	1	0	50	241					G	96887164	T	G	96887164	3	3	79	1	0	0	0	0	1	0	0	0	444	1490	52	4	522	4	AK7	14	96887164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16042	96887164	10462376	14969	25286											
AK7	122481	broad.mit.edu	37	chr14	96904235	96904235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagcggaaggaggcatgTtacacacattttttaaggta	12	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	225					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGGCATGTTACACACATT	0.373																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(673-675)Tta>Cta		adenylate kinase 7							90	94	93					14																	96904235		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96904235T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.673T>C	14.37:g.96904235T>C							p.L225L	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	6	717	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	225					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.673T>C	CCDS9945.1																																																																																				0.373	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			7	311	0	0	0	1	0	7	311					C	96904235	T	C	96904235	2	2	79	1	0	0	0	0	0	0	0	1	444	1722	60	4		4	AK7	14	96904235	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17071	96904235	10445305	14970	25287											
AK7	122481	broad.mit.edu	37	chr14	96909108	96909108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcattaccagtttttggCgatggaacaaatgtaattcc	8	9	0	0	rs373955939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96909108C>T	ENST00000267584.4	+	7	776	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	244					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGTTTTTGGCGATGGAACAA	0.428																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(730-732)ggC>ggT		adenylate kinase 7							284	250	262					14																	96909108		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96909108C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.732C>T	14.37:g.96909108C>T							p.G244G	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	7	776	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	244					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.732C>T	CCDS9945.1																																																																																				0.428	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			12	678	0	0	0	1	0	12	678					T	96909108	C	T	96909108	2	4	79	1	0	0	0	0	0	0	0	1	444	755	27	1		1	AK7	14	96909108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4873	96909108	10440432	14971	25288											
PAPOLA	10914	broad.mit.edu	37	chr14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaatgacagcagcctcGacttgtctatggacagtgat	9	11	2	2	rs369122749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000216277.8	+	17	1790	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA. {ECO:0000250}.			gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGCAGCCTCGACTTGTCTAT	0.413																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1570-1572)Gac>Aac		poly(A) polymerase alpha		G	ASN/ASP	0,4406		0,0,2203	111	102	105		1570	5.3	1	14		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPOLA	NM_032632.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	524/746	97018865	1,13005	2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97018865G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1570G>A	14.37:g.97018865G>A	ENSP00000216277:p.Asp524Asn					PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	17	1790	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	524			Ser/Thr-rich.	Interaction with RNA (By similarity).	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1570G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070980	0.76301	0.0	1.16E-4	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.89;0.856;0.856	B;B;B	0.36335	0.222;0.148;0.148	T	0.54879	-0.8227	9	0.18710	T	0.47	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	540;540;524	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	N	524;540;524;274	.	ENSP00000216277:D524N	D	+	1	0	PAPOLA	96088618	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.102000	0.89548	2.644000	0.89710	0.650000	0.86243	GAC		0.413	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			68	332	0	0	0	1	0	68	332					A	97018865	G	A	97018865	3	1	79	1	0	0	0	0	1	0	0	0	11471	1058	37	1	1636	1	PAPOLA	14	97018865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109757	97018865	10330675	14972	25289											
PAPOLA	10914	broad.mit.edu	37	chr14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagtacaactcaatcagaAactattcagacagcggcttc	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000216277.8	+	21	2326	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	702	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CTCAATCAGAAACTATTCAGA	0.378																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(2104-2106)gaA>gaC		poly(A) polymerase alpha							129	132	131					14																	97029194		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97029194A>C	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2106A>C	14.37:g.97029194A>C	ENSP00000216277:p.Glu702Asp					PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	p.E702D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	21	2326	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	702			Required for interaction with NUDT21.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.2106A>C	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279488	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.93	2.27	0.28462	.	0.324591	0.29410	N	0.012234	T	0.23846	0.0577	N	0.14661	0.345	0.34784	D	0.73503	B;B;B	0.23316	0.004;0.002;0.083	B;B;B	0.17098	0.004;0.002;0.017	T	0.15752	-1.0426	9	0.18710	T	0.47	.	5.4407	0.16507	0.6994:0.1476:0.153:0.0	.	697;718;702	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	D	702;697;681;452	.	ENSP00000216277:E702D	E	+	3	2	PAPOLA	96098947	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.002000	0.29796	0.145000	0.18977	0.482000	0.46254	GAA		0.378	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			149	553	0	0	0	1	0	149	553					C	97029194	A	C	97029194	3	2	79	1	0	0	0	0	1	0	0	0	11471	11	1	4	2188	4	PAPOLA	14	97029194	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10329	97029194	10320346	14973	25290											
BCL11B	64919	broad.mit.edu	37	chr14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccttgccgatctgccCgtgcgtcttcatgtggcgcg	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000357195.3	-	4	2548	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R	BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000345514.2_Missense_Mutation_p.G776R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	847					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTGCCCGTGCGTCTTC	0.627			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2326-2328)Ggg>Agg		B-cell CLL/lymphoma 11B (zinc finger protein)							91	72	78					14																	99640634		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640634C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2539G>A	14.37:g.99640634C>T	ENSP00000349723:p.Gly847Arg					BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000357195.3_Missense_Mutation_p.G847R	p.G776R	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2592	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	847					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2326G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325480	0.81580	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	.	0.295993	0.27567	N	0.018789	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.21655	-1.0239	10	0.87932	D	0	-14.1891	17.9731	0.89119	0.0:1.0:0.0:0.0	.	776;847	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	R	847;776;653	ENSP00000349723:G847R;ENSP00000280435:G776R;ENSP00000387419:G653R	ENSP00000280435:G776R	G	-	1	0	BCL11B	98710387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.331000	0.79229	0.462000	0.41574	GGG		0.627	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		10	224	0	0	0	1	0	10	224					T	99640634	C	T	99640634	3	4	79	1	0	0	0	0	1	0	0	0	1365	652	23	1	149	1	BCL11B	14	99640634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2611440	99640634	7708906	14974	25291											
BCL11B	64919	broad.mit.edu	37	chr14	99641019	99641019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccttcatgaagtgccgCgacgccgcgtagcccaccag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000357195.3	-	4	2163	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000345514.2_Silent_p.S647S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	718					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1939-1941)tcG>tcA		B-cell CLL/lymphoma 11B (zinc finger protein)							22	20	21					14																	99641019		2196	4293	6489	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641019C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2154G>A	14.37:g.99641019C>T						BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000357195.3_Silent_p.S718S	p.S647S	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2207	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	718			Gly-rich.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.1941G>A	CCDS9950.1																																																																																				0.672	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		29	100	0	0	0	1	0	29	100					T	99641019	C	T	99641019	2	4	79	1	0	0	0	0	0	0	0	1	1365	755	27	1		1	BCL11B	14	99641019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385	99641019	7708521	14975	25292											
BCL11B	64919	broad.mit.edu	37	chr14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgacaactgacactggcatCcaaagggagcctccgtctga	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	207					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(619-621)gGa>gAa		B-cell CLL/lymphoma 11B (zinc finger protein)							27	26	26					14																	99697702		2203	4296	6499	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697702C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.620G>A	14.37:g.99697702C>T	ENSP00000349723:p.Gly207Glu					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.G207E	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	629	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	207					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.620G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570624	0.65765	.	.	ENSG00000127152	ENST00000357195	T	0.44881	0.91	5.28	5.28	0.74379	.	0.875761	0.09533	N	0.789240	T	0.56615	0.1997	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50955	-0.8766	10	0.49607	T	0.09	-1.9845	17.1189	0.86696	0.0:1.0:0.0:0.0	.	207	Q9C0K0	BC11B_HUMAN	E	207	ENSP00000349723:G207E	ENSP00000349723:G207E	G	-	2	0	BCL11B	98767455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.474000	0.83562	0.555000	0.69702	GGA		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		36	140	0	0	0	1	0	36	140					T	99697702	C	T	99697702	3	4	79	1	0	0	0	0	1	0	0	0	1365	855	30	2	2072	2	BCL11B	14	99697702	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56683	99697702	7651838	14976	25293											
BCL11B	64919	broad.mit.edu	37	chr14	99697788	99697788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcagggggaggcagggCgggagagcgcccagggcacg	22	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	ENST00000357195.3	-	3	543	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	178					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAGGCAGGGCGGGAGAGCGC	0.697			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(532-534)ccG>ccA		B-cell CLL/lymphoma 11B (zinc finger protein)							23	26	25					14																	99697788		2196	4298	6494	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99697788C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.534G>A	14.37:g.99697788C>T						BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.P178P	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	543	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	178					Q9H162	Silent	SNP	ENST00000357195.3	37	c.534G>A	CCDS9950.1																																																																																				0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		27	98	0	0	0	1	0	27	98					T	99697788	C	T	99697788	2	4	79	1	0	0	0	0	0	0	0	1	1365	755	27	1		1	BCL11B	14	99697788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	99697788	7651752	14977	25294											
BCL11B	64919	broad.mit.edu	37	chr14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccaagctgccgccacaCtgcttccttttgtgctctat	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000357195.3	-	2	249	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.Q80H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	80					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(238-240)caG>caT		B-cell CLL/lymphoma 11B (zinc finger protein)							62	65	64					14																	99723995		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99723995C>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.240G>T	14.37:g.99723995C>A	ENSP00000349723:p.Gln80His					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.Q80H	p.Q80H	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	2	506	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	0					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.240G>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631309	0.46944	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.18657	2.2;2.2	5.89	4.06	0.47325	.	0.088060	0.45867	N	0.000331	T	0.35682	0.0940	L	0.52266	1.64	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.011	T	0.03818	-1.1001	10	0.19590	T	0.45	-16.8894	12.052	0.53511	0.0:0.8138:0.1209:0.0653	.	80;80	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	80	ENSP00000349723:Q80H;ENSP00000280435:Q80H	ENSP00000280435:Q80H	Q	-	3	2	BCL11B	98793748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	0.816000	0.34421	0.655000	0.94253	CAG		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		75	359	1	0	2.14232e-31	1	2.52235e-31	75	359					A	99723995	C	A	99723995	3	1	79	1	0	0	0	0	1	0	0	0	1365	564	20	3	2456	3	BCL11B	14	99723995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26207	99723995	7625545	14978	25295											
CCNK	8812	broad.mit.edu	37	chr14	99959071	99959071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcagcaaacctggaccaCacaaagccatgttggtactg	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000555049.1_Silent_p.H19H|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	19					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(55-57)caC>caT		cyclin K							67	64	65					14																	99959071		1904	4122	6026	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99959071C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.57C>T	14.37:g.99959071C>T						CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			2	180	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	19					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.57C>T	CCDS45160.1																																																																																				0.458	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			19	111	0	0	0	1	0	19	111					T	99959071	C	T	99959071	2	4	79	1	0	0	0	0	0	0	0	1	2939	477	17	2		2	CCNK	14	99959071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235076	99959071	7390469	14979	25296											
CCNK	8812	broad.mit.edu	37	chr14	99976659	99976659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacccccctccagctAcatgaccgggatgtccacca	7	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	ENST00000389879.5	+	11	1406	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C	RP11-688G15.3_ENST00000557733.1_RNA|CCNK_ENST00000555049.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	428					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCCTCCAGCTACATGACCGGG	0.682																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(1282-1284)tAc>tGc		cyclin K							16	17	17					14																	99976659		1839	4080	5919	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99976659A>G	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1283A>G	14.37:g.99976659A>G	ENSP00000374529:p.Tyr428Cys					CCNK_ENST00000555049.1_Intron	p.Y428C	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			11	1406	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	428					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.1283A>G	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294859	0.23564	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.21932	1.98	3.96	3.96	0.45880	.	0.313205	0.31031	N	0.008392	T	0.24624	0.0597	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.02365	-1.1170	10	0.44086	T	0.13	-6.2002	13.0066	0.58707	1.0:0.0:0.0:0.0	.	428	O75909	CCNK_HUMAN	C	448;428	ENSP00000374529:Y428C	ENSP00000374529:Y428C	Y	+	2	0	CCNK	99046412	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	8.145000	0.89625	1.665000	0.50811	0.397000	0.26171	TAC		0.682	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			5	44	0	0	0	1	0	5	44					G	99976659	A	G	99976659	3	3	79	1	0	0	0	0	1	0	0	0	2939	391	14	4	1321	4	CCNK	14	99976659	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17588	99976659	7372881	14980	25297											
HHIPL1	84439	broad.mit.edu	37	chr14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaaccgcaggctctacGtctactactcagtgggtatc	9	13	3	0	rs200138544		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617																																						ENST00000330710.5																			1	Substitution - Missense(1)	p.V268I(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(802-804)Gtc>Atc		HHIP-like 1							48	38	41					14																	100119107		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119107G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.802G>A	14.37:g.100119107G>A	ENSP00000330601:p.Val268Ile					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	900	+		Melanoma(154;0.128)	268					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.802G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	HHIPL1	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC		0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		46	157	0	0	0	1	0	46	157					A	100119107	G	A	100119107	3	1	79	1	0	0	0	0	1	0	0	0	7123	1145	40	1	808	1	HHIPL1	14	100119107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142448	100119107	7230433	14981	25298											
HHIPL1	84439	broad.mit.edu	37	chr14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggatgacgagaacgccGtggaccacagctctgagagg	15	11	1	3	rs369676917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	295					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18884	0.0		0.001	False		,,,				2504	0.0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(883-885)Gtg>Atg		HHIP-like 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	29	30	30		883,883	4.6	1	14		30	0,8600		0,0,4300	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	295/783,295/609	100119188	1,13005	2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119188G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.883G>A	14.37:g.100119188G>A	ENSP00000330601:p.Val295Met					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	981	+		Melanoma(154;0.128)	295					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.883G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350023	0.61183	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.079955	0.51477	D	0.000094	T	0.40145	0.1105	M	0.85462	2.755	0.47819	D	0.999523	D;D	0.76494	0.999;0.995	D;P	0.69654	0.965;0.898	T	0.44620	-0.9316	10	0.72032	D	0.01	.	14.0064	0.64465	0.0:0.0:0.8484:0.1516	.	295;295	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	295	ENSP00000330601:V295M;ENSP00000349757:V295M	ENSP00000330601:V295M	V	+	1	0	HHIPL1	99188941	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	3.063000	0.49978	2.106000	0.64143	0.563000	0.77884	GTG		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		55	174	0	0	0	1	0	55	174					A	100119188	G	A	100119188	3	1	79	1	0	0	0	0	1	0	0	0	7123	1145	40	1	889	1	HHIPL1	14	100119188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	100119188	7230352	14982	25299											
HHIPL1	84439	broad.mit.edu	37	chr14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaggcctcatcaacaActactacccgtacatcatct	4	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	536					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1606-1608)aAc>aCc		HHIP-like 1							114	95	101					14																	100129317		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129317A>C	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1607A>C	14.37:g.100129317A>C	ENSP00000330601:p.Asn536Thr					HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1705	+		Melanoma(154;0.128)	536					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1607A>C	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956543	0.34565	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13657	5.03;2.57	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054883	0.64402	D	0.000001	T	0.07683	0.0193	N	0.04746	-0.17	0.58432	D	0.999992	B;B	0.13145	0.005;0.007	B;B	0.25614	0.062;0.006	T	0.29243	-1.0018	10	0.13470	T	0.59	.	14.5057	0.67750	1.0:0.0:0.0:0.0	.	536;536	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	536	ENSP00000330601:N536T;ENSP00000349757:N536T	ENSP00000330601:N536T	N	+	2	0	HHIPL1	99199070	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.474000	0.81024	1.840000	0.53500	0.533000	0.62120	AAC		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		46	281	0	0	0	1	0	46	281					C	100129317	A	C	100129317	3	2	79	1	0	0	0	0	1	0	0	0	7123	43	2	4	1629	4	HHIPL1	14	100129317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10129	100129317	7220223	14983	25300											
HHIPL1	84439	broad.mit.edu	37	chr14	100135184	100135184	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagctgtaaggccagaagCgccatgcccggctatgtccc	11	14	1	1	rs377111858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100135184C>T	ENST00000330710.5	+	7	1828				HHIPL1_ENST00000357223.2_Silent_p.S582S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGCCAGAAGCGCCATGCCCG	0.567																																						ENST00000357223.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1744-1746)agC>agT		HHIP-like 1		C	,	0,4406		0,0,2203	94	94	94		,1746	-4.2	0	14		94	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,582/609	100135184	1,13005	2203	4300	6503	SO:0001627	intron_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100135184C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1730+544C>T	14.37:g.100135184C>T						HHIPL1_ENST00000330710.5_Intron	p.S582S	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN			8	1811	+		Melanoma(154;0.128)	578					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.1746C>T	CCDS45162.1																																																																																				0.567	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		118	518	0	0	0	1	0	118	518					T	100135184	C	T	100135184	1	4	79	0	1	0	0	0	0	0	0	0	7123	767	27	1		1	HHIPL1	14	100135184	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5867	100135184	7214356	14984	25301											
CYP46A1	10858	broad.mit.edu	37	chr14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaaacctcagtcatcGtcacgagtcctgagtcggtt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(259-261)Gtc>Atc		cytochrome P450, family 46, subfamily A, polypeptide 1							181	156	164					14																	100158175		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100158175G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.259G>A	14.37:g.100158175G>A	ENSP00000261835:p.Val87Ile					RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	p.V87I	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			3	363	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	87					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.259G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.791|7.791	0.711580|0.711580	0.15306|0.15306	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.68181	.|-0.31	4.32|4.32	-0.929|-0.929	0.10444|0.10444	.|.	.|0.288191	.|0.32401	.|N	.|0.006142	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12837	.|0.008	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.09843	.|T	.|0.71	.|.	8.9458|8.9458	0.35758|0.35758	0.5097:0.0:0.4903:0.0|0.5097:0.0:0.4903:0.0	.|.	.|87	.|Q9Y6A2	.|CP46A_HUMAN	H|I	73|87	.|ENSP00000261835:V87I	.|ENSP00000261835:V87I	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99227928|99227928	0.013000|0.013000	0.17824|0.17824	0.987000|0.987000	0.45799|0.45799	0.403000|0.403000	0.30841|0.30841	-0.464000|-0.464000	0.06688|0.06688	-0.298000|-0.298000	0.08921|0.08921	-1.119000|-1.119000	0.02030|0.02030	CGT|GTC		0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			64	270	0	0	0	1	0	64	270					A	100158175	G	A	100158175	3	1	79	1	0	0	0	0	1	0	0	0	4193	1145	40	1	269	1	CYP46A1	14	100158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22991	100158175	7191365	14985	25302											
CYP46A1	10858	broad.mit.edu	37	chr14	100187648	100187648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacctggggagactgcaGtacctgtcccaggtgtggga	17	9	0	1	rs370665505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000261835.3	+	11	1157	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CYP46A1_ENST00000554176.1_Silent_p.Q198Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	351					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17685	0.0		0.0	False		,,,				2504	0.0					ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(592-594)caG>caA		cytochrome P450, family 46, subfamily A, polypeptide 1		G		1,4405	2.1+/-5.4	0,1,2202	135	110	119		1053	4.2	1	14		119	0,8600		0,0,4300	no	coding-synonymous	CYP46A1	NM_006668.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		351/501	100187648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100187648G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1053G>A	14.37:g.100187648G>A						CYP46A1_ENST00000261835.3_Silent_p.Q351Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	p.Q198Q			Q9Y6A2	CP46A_HUMAN			6	1260	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	351					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.594G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.909957	0.17833	2.27E-4	0.0	ENSG00000036530	ENST00000380228	.	.	.	5.07	4.19	0.49359	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.1049	0.42528	0.0931:0.0:0.9069:0.0	.	.	.	.	I	338	.	.	V	+	1	0	CYP46A1	99257401	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	1.296000	0.44742	-0.224000	0.12420	GTA		0.557	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			42	194	0	0	0	1	0	42	194					A	100187648	G	A	100187648	2	1	79	1	0	0	0	0	0	0	0	1	4193	1020	36	2		2	CYP46A1	14	100187648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29473	100187648	7161892	14986	25303											
EML1	2009	broad.mit.edu	37	chr14	100367375	100367375	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtattgcattctcaaaatCtgtaagtatgtgccctgtgg	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000334192.4_Splice_Site_p.S355Y|EML1_ENST00000327921.9_Splice_Site_p.S324Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	336	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCTCAAAATCTGTAAGTATG	0.458																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		echinoderm microtubule associated protein like 1							218	191	200					14																	100367375		2203	4300	6503	SO:0001630	splice_region_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367375C>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1008+1C>A	14.37:g.100367375C>A						EML1_ENST00000327921.9_Splice_Site_p.S324_splice|EML1_ENST00000334192.4_Splice_Site_p.S355_splice	p.S336_splice	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1146	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	336					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Splice_Site	SNP	ENST00000262233.6	37	c.1008_splice	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927097	0.92389	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.30448	2.74;1.58;1.53;1.58	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.982;1.0;0.999	D;D;P;D;D	0.91635	0.998;0.994;0.839;0.999;0.996	T	0.61168	-0.7117	10	0.87932	D	0	-18.0254	19.0383	0.92987	0.0:1.0:0.0:0.0	.	324;324;336;355;355	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Y	323;324;336;355;355	ENSP00000451346:S323Y;ENSP00000327384:S324Y;ENSP00000262233:S336Y;ENSP00000334314:S355Y	ENSP00000262233:S336Y	S	+	2	0	EML1	99437128	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	7.355000	0.79434	2.491000	0.84063	0.591000	0.81541	TCT		0.458	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	Missense_Mutation	65	295	1	0	3.79397e-19	1	4.22686e-19	65	295					A	100367375	C	A	100367375	5	1	79	1	0	0	0	0	0	0	1	0	5114	927	32	3	1102	3	EML1	14	100367375	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179727	100367375	6982165	14987	25304											
EML1	2009	broad.mit.edu	37	chr14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaagcaagtcgtaagtGtggaaactacaagagacatt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000334192.4_Missense_Mutation_p.V729M|EML1_ENST00000327921.9_Missense_Mutation_p.V698M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	710	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTCGTAAGTGTGGAAACTAC	0.483																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2128-2130)Gtg>Atg		echinoderm microtubule associated protein like 1							269	231	244					14																	100404186		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100404186G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2128G>A	14.37:g.100404186G>A	ENSP00000262233:p.Val710Met					EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	p.V710M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			20	2267	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	710					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2128G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993268	0.54041	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18174	2.23;2.23;2.23	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.13098	0.295	0.80722	D	1	B;B;B	0.30326	0.156;0.004;0.276	B;B;B	0.39185	0.151;0.004;0.293	T	0.16958	-1.0385	10	0.40728	T	0.16	-8.1253	18.1469	0.89661	0.0:0.0:1.0:0.0	.	698;710;729	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	M	698;710;729;729	ENSP00000327384:V698M;ENSP00000262233:V710M;ENSP00000334314:V729M	ENSP00000262233:V710M	V	+	1	0	EML1	99473939	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.549000	0.82163	2.364000	0.80123	0.561000	0.74099	GTG		0.483	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		79	427	0	0	0	1	0	79	427					A	100404186	G	A	100404186	3	1	79	1	0	0	0	0	1	0	0	0	5114	1377	48	2	2267	2	EML1	14	100404186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36811	100404186	6945354	14988	25305											
EML1	2009	broad.mit.edu	37	chr14	100405613	100405613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaactcctgtcaacaggCgacgactttggcaaagtgca	10	10	1	1	rs542054890	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000334192.4_Silent_p.G776G|EML1_ENST00000327921.9_Silent_p.G745G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	757	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTCAACAGGCGACGACTTTG	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.002					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2269-2271)ggC>ggT		echinoderm microtubule associated protein like 1							128	116	120					14																	100405613		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405613C>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2271C>T	14.37:g.100405613C>T						EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	p.G757G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2410	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	757					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2271C>T	CCDS32155.1																																																																																				0.522	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		62	251	0	0	0	1	0	62	251					T	100405613	C	T	100405613	2	4	79	1	0	0	0	0	0	0	0	1	5114	755	27	1		1	EML1	14	100405613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1427	100405613	6943927	14989	25306											
YY1	7528	broad.mit.edu	37	chr14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtggtgggcgaggaggagGaggaggacgacgacgacgag	22	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	46	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(136-138)Gag>Tag		YY1 transcription factor							22	16	18					14																	100705717		2172	4266	6438	SO:0001587	stop_gained	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705717G>T	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.136G>T	14.37:g.100705717G>T	ENSP00000262238:p.Glu46*						p.E46*	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	396	+		Melanoma(154;0.152)	46			Asp/Glu-rich (acidic).		Q14935	Nonsense_Mutation	SNP	ENST00000262238.4	37	c.136G>T	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.779841	0.90195	.	.	ENSG00000100811	ENST00000262238	.	.	.	1.92	0.98	0.19750	.	0.232106	0.24786	U	0.035613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0713	0.25179	0.1539:0.0:0.8461:0.0	.	.	.	.	X	46	.	ENSP00000262238:E46X	E	+	1	0	YY1	99775470	1.000000	0.71417	0.136000	0.22124	0.761000	0.43186	2.646000	0.46630	0.152000	0.19188	0.538000	0.68166	GAG		0.711	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		11	59	1	0	7.03913e-09	1	7.37812e-09	11	59					T	100705717	G	T	100705717	4	4	79	1	0	0	0	0	0	1	0	0	17561	1175	41	3	138	3	YY1	14	100705717	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300104	100705717	6643823	14990	25307											
SLC25A29	123096	broad.mit.edu	37	chr14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccaggaactggttgAggggcgagtcgtggcccagg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000359232.3	-	4	578	c.278T>C	c.(277-279)cTc>cCc	p.L93P	SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000554912.1_Missense_Mutation_p.L27P	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	93						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706																																						ENST00000554912.1																			0				NS(1)|endometrium(1)|ovary(1)	3						c.(79-81)cTc>cCc		solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	L-Carnitine(DB00583)						9	12	11					14																	100759254		2127	4178	6305	SO:0001583	missense	123096					integral to membrane|mitochondrial inner membrane	binding	g.chr14:100759254A>G	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.278T>C	14.37:g.100759254A>G	ENSP00000352167:p.Leu93Pro					SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000359232.3_Missense_Mutation_p.L93P	p.L27P			Q8N8R3	MCATL_HUMAN			2	3367	-		Melanoma(154;0.152)	93					A3KMR5|Q541V0	Missense_Mutation	SNP	ENST00000359232.3	37	c.80T>C	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	A	9.282	1.048416	0.19827	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927;ENST00000554291	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.498441	0.20697	N	0.087352	T	0.79592	0.4472	L	0.39326	1.205	0.80722	D	1	P	0.38788	0.647	P	0.46419	0.516	T	0.77707	-0.2487	10	0.33940	T	0.23	-8.3233	14.6953	0.69118	1.0:0.0:0.0:0.0	.	93	Q8N8R3	MCATL_HUMAN	P	93;27;27;27;27;27	ENSP00000352167:L93P;ENSP00000450913:L27P;ENSP00000442985:L27P;ENSP00000452446:L27P;ENSP00000452078:L27P;ENSP00000452324:L27P	ENSP00000352167:L93P	L	-	2	0	SLC25A29	99829007	0.989000	0.36119	0.675000	0.29917	0.023000	0.10783	2.824000	0.48088	1.883000	0.54544	0.460000	0.39030	CTC		0.706	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			15	73	0	0	0	1	0	15	73					G	100759254	A	G	100759254	3	3	79	1	0	0	0	0	1	0	0	0	14542	304	11	4	637	4	SLC25A29	14	100759254	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53537	100759254	6590286	14991	25308											
C14orf68	283600	broad.mit.edu	37	chr14	100795904	100795904	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctggtactcaattgctgCcgcgccttccctgtcaacat	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100795904C>A	ENST00000361529.3	+	6	927	c.849C>A	c.(847-849)tgC>tgA	p.C283*	SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.C137*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCAATTGCTGCCGCGCCTTCC	0.652																																					GBM(11;1289 1351)	ENST00000361529.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(847-849)tgC>tgA		solute carrier family 25, member 47							81	89	86					14																	100795904		2203	4300	6503	SO:0001587	stop_gained	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795904C>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.849C>A	14.37:g.100795904C>A	ENSP00000354886:p.Cys283*					SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.C137*	p.C283*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN			6	927	+			283					B2RP39|Q68CL2|Q6PZD8|Q86U14	Nonsense_Mutation	SNP	ENST00000361529.3	37	c.849C>A	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452438	0.98292	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	.	.	.	5.38	2.03	0.26663	.	0.227225	0.46758	D	0.000265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.2138	8.0378	0.30504	0.0:0.609:0.1141:0.2769	.	.	.	.	X	283;137	.	ENSP00000354886:C283X	C	+	3	2	SLC25A47	99865657	0.104000	0.21937	0.998000	0.56505	0.722000	0.41435	-0.563000	0.05943	0.619000	0.30197	0.555000	0.69702	TGC		0.652	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			151	765	1	0	1.1305e-62	1	1.42512e-62	151	765					A	100795904	C	A	100795904	4	1	79	1	0	0	0	0	0	1	0	0	1783	747	26	3	871	3	C14orf68	14	100795904	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36650	100795904	6553636	14992	25309											
WARS	7453	broad.mit.edu	37	chr14	100813093	100813093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcttaccaatgcagtcGctgtcagtgaagccgaaaat	10	11	2	1	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Silent_p.S231S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	272					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(814-816)agC>agT		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)	G	,,,	0,4406		0,0,2203	146	107	120		816,816,693,693	-5.3	0.9	14	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WARS	NM_004184.3,NM_173701.1,NM_213645.1,NM_213646.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	272/472,272/472,231/431,231/431	100813093	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100813093G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.816C>T	14.37:g.100813093G>A						WARS_ENST00000358655.4_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S	p.S272S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			7	1434	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	272					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.816C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	1.204	-0.631742	0.03584	0.0	1.16E-4	ENSG00000140105	ENST00000554601	.	.	.	5.79	-5.31	0.02730	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63225	-0.6685	4	.	.	.	-5.3317	13.9893	0.64355	0.5038:0.0:0.4962:0.0	.	.	.	.	V	25	.	.	A	-	2	0	WARS	99882846	0.775000	0.28604	0.912000	0.35992	0.023000	0.10783	0.026000	0.13599	-1.029000	0.03317	-0.982000	0.02568	GCG		0.473	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		50	220	0	0	0	1	0	50	220					A	100813093	G	A	100813093	2	1	79	1	0	0	0	0	0	0	0	1	17303	1078	38	1		1	WARS	14	100813093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17189	100813093	6536447	14993	25310											
WARS	7453	broad.mit.edu	37	chr14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattttactacttccaaaccGaactggaaaaaaagaaaaga	5	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.R65W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(316-318)Cgg>Tgg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						152	141	144					14																	100826997		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100826997G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	14.37:g.100826997G>A	ENSP00000347495:p.Arg106Trp					WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W	p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			4	934	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	106					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.316C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG		0.418	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		64	261	0	0	0	1	0	64	261					A	100826997	G	A	100826997	3	1	79	1	0	0	0	0	1	0	0	0	17303	1057	37	1	1131	1	WARS	14	100826997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13904	100826997	6522543	14994	25311											
WARS	7453	broad.mit.edu	37	chr14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatgattactggtaggtgCtgggttccctggaggacagt	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.A27S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	68					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(202-204)Gca>Tca		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						223	210	214					14																	100828156		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100828156C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.202G>T	14.37:g.100828156C>A	ENSP00000347495:p.Ala68Ser					WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S	p.A68S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			3	820	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	68					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.202G>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483647	0.26598	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.13;0.96;1.13;0.96;1.13;0.96;0.92;0.92;1.13;0.96;0.96;0.96;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.67	-1.88	0.07713	WHEP-TRS (1);	0.826647	0.11454	N	0.562476	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29366	-1.0014	10	0.06891	T	0.86	-1.0898	2.7529	0.05286	0.109:0.4165:0.1068:0.3677	.	68	P23381	SYWC_HUMAN	S	68;27;68;27;68;27;27;27;68;27;27;27;68;68;102;68;68;68;68;68;68;102;68;68	ENSP00000376620:A68S;ENSP00000351481:A27S;ENSP00000347495:A68S;ENSP00000339485:A27S;ENSP00000451460:A68S;ENSP00000451887:A27S;ENSP00000451490:A27S;ENSP00000451251:A27S;ENSP00000450500:A68S;ENSP00000451599:A27S;ENSP00000452519:A27S;ENSP00000451544:A27S;ENSP00000450427:A68S;ENSP00000451349:A68S;ENSP00000450934:A102S;ENSP00000451469:A68S;ENSP00000451402:A68S;ENSP00000452550:A68S;ENSP00000451906:A68S;ENSP00000451716:A68S;ENSP00000450563:A68S;ENSP00000451894:A102S;ENSP00000451027:A68S;ENSP00000450978:A68S	ENSP00000339485:A27S	A	-	1	0	WARS	99897909	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	-0.164000	0.10927	-0.140000	0.14226	GCA		0.483	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		88	384	1	0	4.92795e-40	1	5.96786e-40	88	384					A	100828156	C	A	100828156	3	1	79	1	0	0	0	0	1	0	0	0	17303	797	28	3	1249	3	WARS	14	100828156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1159	100828156	6521384	14995	25312											
WDR25	79446	broad.mit.edu	37	chr14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgtaggtaaaaatggcaGctcttttcagaagaaaaaat	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(484-486)aGc>aAc		WD repeat domain 25							81	91	88					14																	100847746		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100847746G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.485G>A	14.37:g.100847746G>A	ENSP00000334148:p.Ser162Asn					WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.162_162insN	p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			2	711	+		Melanoma(154;0.212)	162					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.485G>A	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089731	0.20390	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.78	5.53	0.307	0.15811	.	0.568068	0.17771	N	0.162570	T	0.44329	0.1288	L	0.35854	1.095	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.22068	-1.0227	10	0.35671	T	0.21	-8.6233	4.6728	0.12698	0.3262:0.0:0.5353:0.1385	.	162	Q64LD2	WDR25_HUMAN	N	162	ENSP00000450661:S162N;ENSP00000385540:S162N;ENSP00000334148:S162N;ENSP00000450727:S162N	ENSP00000334148:S162N	S	+	2	0	WDR25	99917499	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.463000	0.06696	-0.223000	0.09943	-0.345000	0.07892	AGC		0.468	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		126	592	0	0	0	1	0	126	592					A	100847746	G	A	100847746	3	1	79	1	0	0	0	0	1	0	0	0	17336	971	34	2	487	2	WDR25	14	100847746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19590	100847746	6501794	14996	25313											
WDR25	79446	broad.mit.edu	37	chr14	100847801	100847801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccctatactcccagaagActaagacagcggcaggcatt	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000554175.1_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537																																						ENST00000554175.1																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(538-540)agA>agG		WD repeat domain 25							81	90	87					14																	100847801		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100847801A>G	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.540A>G	14.37:g.100847801A>G						WDR25_ENST00000335290.6_Silent_p.R180R|WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000554998.1_Silent_p.R180R	p.180_180insR			Q64LD2	WDR25_HUMAN			2	719	+		Melanoma(154;0.212)						A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.540A>G	CCDS32157.1																																																																																				0.537	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		168	614	0	0	0	1	0	168	614					G	100847801	A	G	100847801	2	3	79	1	0	0	0	0	0	0	0	1	17336	272	10	4		4	WDR25	14	100847801	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	100847801	6501739	14997	25314											
BEGAIN	57596	broad.mit.edu	37	chr14	101005511	101005511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgggaggacaggctggCggggtccggcttctccagca	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101005511C>T	ENST00000355173.2	-	7	648	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T|BEGAIN_ENST00000556751.1_Missense_Mutation_p.A129T|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	193						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GACAGGCTGGCGGGGTCCGGC	0.706																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(385-387)Gcc>Acc		brain-enriched guanylate kinase-associated							16	20	19					14																	101005511		2193	4295	6488	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101005511C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.577G>A	14.37:g.101005511C>T	ENSP00000347301:p.Ala193Thr					BEGAIN_ENST00000355173.2_Missense_Mutation_p.A193T|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T	p.A129T			Q9BUH8	BEGIN_HUMAN			5	3789	-		Melanoma(154;0.212)	193					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.385G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848007	0.00568	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	3.97	-2.36	0.06663	.	1.172930	0.05986	N	0.645139	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.06891	T	0.86	.	9.0452	0.36343	0.0:0.4358:0.1:0.4642	.	193	Q9BUH8	BEGIN_HUMAN	T	193;129;193;205;193;129	ENSP00000347301:A193T;ENSP00000451380:A129T;ENSP00000411124:A193T;ENSP00000451397:A205T;ENSP00000452157:A193T;ENSP00000452607:A129T	ENSP00000347301:A193T	A	-	1	0	BEGAIN	100075264	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-0.207000	0.09384	-0.795000	0.04462	-3.145000	0.00059	GCC		0.706	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		10	109	0	0	0	1	0	10	109					T	101005511	C	T	101005511	3	4	79	1	0	0	0	0	1	0	0	0	1398	768	27	1	1208	1	BEGAIN	14	101005511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157710	101005511	6344029	14998	25315											
DLK1	8788	broad.mit.edu	37	chr14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaagcccgagttcacaGgtctcacctgtgtcaagaag	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	241	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(721-723)Ggt>Tgt		delta-like 1 homolog (Drosophila)							37	43	41					14																	101200802		2202	4300	6502	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200802G>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.721G>T	14.37:g.101200802G>T	ENSP00000340292:p.Gly241Cys					DLK1_ENST00000331224.6_Intron	p.G241C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	963	+		Melanoma(154;0.155)	241			EGF-like 6.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.721G>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953983	0.73902	.	.	ENSG00000185559	ENST00000341267	D	0.99121	-5.45	4.46	4.46	0.54185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	.	.	.	.	16.1202	0.81346	0.0:0.0:1.0:0.0	.	241	P80370	DLK1_HUMAN	C	241	ENSP00000340292:G241C	.	G	+	1	0	DLK1	100270555	1.000000	0.71417	0.175000	0.22980	0.825000	0.46686	9.183000	0.94887	2.031000	0.59945	0.491000	0.48974	GGT		0.677	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			100	385	1	0	1.39607e-43	1	1.70485e-43	100	385					T	101200802	G	T	101200802	3	4	79	1	0	0	0	0	1	0	0	0	4580	1000	35	3	739	3	DLK1	14	101200802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195291	101200802	6148738	14999	25316											
DIO3	1735	broad.mit.edu	37	chr14	102028036	102028036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatttcttgtgtatccGcaagcatttcctgggccgcc	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028036G>A	ENST00000510508.4	+	1	349	c.203G>A	c.(202-204)cGc>cAc	p.R68H	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.R42H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	68					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGTGTATCCGCAAGCATTTC	0.662																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(124-126)cGc>cAc		deiodinase, iodothyronine, type III							45	49	48					14																	102028036		2001	4154	6155	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028036G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.203G>A	14.37:g.102028036G>A	ENSP00000427336:p.Arg68His					DIO3_ENST00000510508.4_Missense_Mutation_p.R68H	p.R42H	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	349	+		all_neural(303;0.185)	42					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.125G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.92	3.724684	0.68959	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.34859	1.34;1.34	3.19	3.19	0.36642	.	0.000000	0.52532	U	0.000079	T	0.60792	0.2296	M	0.83118	2.625	0.38816	D	0.955529	D	0.89917	1.0	D	0.91635	0.999	T	0.69109	-0.5232	10	0.54805	T	0.06	.	13.1046	0.59239	0.0:0.0:1.0:0.0	.	42	P55073	IOD3_HUMAN	H	42;68	ENSP00000352273:R42H;ENSP00000427336:R68H	ENSP00000352273:R68H	R	+	2	0	DIO3;AL049836.1	101097789	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	9.485000	0.97942	1.603000	0.50134	0.450000	0.29827	CGC		0.662	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		66	432	0	0	0	1	0	66	432					A	102028036	G	A	102028036	3	1	79	1	0	0	0	0	1	0	0	0	4542	1087	38	1	205	1	DIO3	14	102028036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	827234	102028036	5321504	15000	25317											
DIO3	1735	broad.mit.edu	37	chr14	102028103	102028103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctcaacagtgaaggCgaggaggtgcctcccgatga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000510508.4	+	1	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.G64G			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	90					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(190-192)ggC>ggT		deiodinase, iodothyronine, type III							43	48	47					14																	102028103		1976	4126	6102	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028103C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.270C>T	14.37:g.102028103C>T						DIO3_ENST00000510508.4_Silent_p.G90G	p.G64G	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	416	+		all_neural(303;0.185)	64					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.192C>T	CCDS41992.2																																																																																				0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		69	432	0	0	0	1	0	69	432					T	102028103	C	T	102028103	2	4	79	1	0	0	0	0	0	0	0	1	4542	755	27	1		1	DIO3	14	102028103	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	102028103	5321437	15001	25318											
DIO3	1735	broad.mit.edu	37	chr14	102028265	102028265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggtggttctgcccgaCggcttccagagccagcacat	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000510508.4	+	1	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.D118D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	144					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(352-354)gaC>gaT		deiodinase, iodothyronine, type III							40	45	43					14																	102028265		2040	4185	6225	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028265C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.432C>T	14.37:g.102028265C>T						DIO3_ENST00000510508.4_Silent_p.D144D	p.D118D	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	578	+		all_neural(303;0.185)	118					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.354C>T	CCDS41992.2																																																																																				0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		89	400	0	0	0	1	0	89	400					T	102028265	C	T	102028265	2	4	79	1	0	0	0	0	0	0	0	1	4542	535	19	1		1	DIO3	14	102028265	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	102028265	5321275	15002	25319											
PPP2R5C	5527	broad.mit.edu	37	chr14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaagactcacagtccaaaaGaagtaatgttcttaaacgaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000334743.5	+	9	949	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	301					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(994-996)Gaa>Taa		protein phosphatase 2, regulatory subunit B', gamma							122	117	119					14																	102368104		2203	4300	6503	SO:0001587	stop_gained	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102368104G>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.901G>T	14.37:g.102368104G>T	ENSP00000333905:p.Glu301*					PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000334743.5_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*	p.E332*	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			11	1090	+			301					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Nonsense_Mutation	SNP	ENST00000334743.5	37	c.994G>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	37	6.606893	0.97701	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6198	13.7895	0.63131	0.074:0.0:0.926:0.0	.	.	.	.	X	332;356;330;301;199;301;301;301;97	.	ENSP00000329009:E356X	E	+	1	0	PPP2R5C	101437857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	1.221000	0.43506	0.655000	0.94253	GAA		0.443	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		99	407	1	0	1.76565e-42	1	2.15003e-42	99	407					T	102368104	G	T	102368104	4	4	79	1	0	0	0	0	0	1	0	0	12441	943	33	3	1304	3	PPP2R5C	14	102368104	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339839	102368104	4981436	15003	25320											
DYNC1H1	1778	broad.mit.edu	37	chr14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctaaacttggaacgtgCgttataccgcatccaggaga	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	284	Stem. {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)			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						TTGGAACGTGCGTTATACCGC	0.463																																						ENST00000360184.4																			0				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						c.(850-852)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							103	102	102					14																	102446777		2203	4300	6503	SO:0001583	missense	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.chr14:102446777C>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.851C>T	14.37:g.102446777C>T	ENSP00000348965:p.Ala284Val						p.A284V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			5	1015	+			284			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.851C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828299	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82104	-0.0622	10	0.41790	T	0.15	.	19.1779	0.93611	0.0:1.0:0.0:0.0	.	284	Q14204	DYHC1_HUMAN	V	284	ENSP00000348965:A284V	ENSP00000348965:A284V	A	+	2	0	DYNC1H1	101516530	1.000000	0.71417	0.889000	0.34880	0.305000	0.27757	7.383000	0.79741	2.601000	0.87937	0.591000	0.81541	GCG		0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	313	0	0	0	1	0	41	313					T	102446777	C	T	102446777	3	4	79	1	0	0	0	0	1	0	0	0	4857	768	27	1	869	1	DYNC1H1	14	102446777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78673	102446777	4902763	15004	25321											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcgcagaaggcattgCgttggtgtgggagtcctaca	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem. {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)			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						GAAGGCATTGCGTTGGTGTGG	0.502																																						ENST00000360184.4																			0				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						c.(2461-2463)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							117	105	109					14																	102453024		2203	4300	6503	SO:0001583	missense	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.chr14:102453024C>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.2462C>T	14.37:g.102453024C>T	ENSP00000348965:p.Ala821Val						p.A821V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2626	+			821			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2462C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536019	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.106999	0.64402	D	0.000004	T	0.45337	0.1337	L	0.40543	1.245	0.54753	D	0.999985	B	0.32051	0.354	B	0.24269	0.052	T	0.31971	-0.9924	10	0.31617	T	0.26	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	821	Q14204	DYHC1_HUMAN	V	821	ENSP00000348965:A821V	ENSP00000348965:A821V	A	+	2	0	DYNC1H1	101522777	1.000000	0.71417	0.276000	0.24689	0.607000	0.37147	7.425000	0.80255	2.767000	0.95098	0.655000	0.94253	GCG		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		86	335	0	0	0	1	0	86	335					T	102453024	C	T	102453024	3	4	79	1	0	0	0	0	1	0	0	0	4857	768	27	1	2492	1	DYNC1H1	14	102453024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6247	102453024	4896516	15005	25322											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttccctgcccggttgCgacagtatgcgtcctatgag	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1378	Stem. {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)			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						TGCCCGGTTGCGACAGTATGC	0.473																																						ENST00000360184.4																			0				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						c.(4132-4134)Cga>Tga		dynein, cytoplasmic 1, heavy chain 1							139	144	142					14																	102467348		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.chr14:102467348C>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.4132C>T	14.37:g.102467348C>T	ENSP00000348965:p.Arg1378*						p.R1378*	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			19	4296	+			1378			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.4132C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.575953	0.99430	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000348965:R1378X	R	+	1	2	DYNC1H1	101537101	1.000000	0.71417	0.970000	0.41538	0.379000	0.30106	6.135000	0.71696	2.767000	0.95098	0.563000	0.77884	CGA		0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		149	650	0	0	0	1	0	149	650					T	102467348	C	T	102467348	4	4	79	1	0	0	0	0	0	1	0	0	4857	760	27	1	4206	1	DYNC1H1	14	102467348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14324	102467348	4882192	15006	25323											
DYNC1H1	1778	broad.mit.edu	37	chr14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgattttactttgaccCtaagcaaactgatgtgttac	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem. {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)			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						TACTTTGACCCTAAGCAAACT	0.418																																						ENST00000360184.4																			0				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						c.(5542-5544)cCt>cAt		dynein, cytoplasmic 1, heavy chain 1							151	142	145					14																	102472334		2203	4300	6503	SO:0001583	missense	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.chr14:102472334C>A	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.5543C>A	14.37:g.102472334C>A	ENSP00000348965:p.Pro1848His						p.P1848H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			27	5707	+			1848			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5543C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		60	612	1	0	9.59835e-30	1	1.1228e-29	60	612					A	102472334	C	A	102472334	3	1	79	1	0	0	0	0	1	0	0	0	4857	681	24	3	5649	3	DYNC1H1	14	102472334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4986	102472334	4877206	15007	25324											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482234	102482234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgcaaccgtacttcacGtccaacggcctggtcaccaa	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2. {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)			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						CGTACTTCACGTCCAACGGCC	0.532																																						ENST00000360184.4																			0				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						c.(7282-7284)acG>acA		dynein, cytoplasmic 1, heavy chain 1							102	82	89					14																	102482234		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102482234G>A	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.7284G>A	14.37:g.102482234G>A							p.T2428T	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			36	7448	+			2428			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7284G>A	CCDS9966.1																																																																																				0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		49	186	0	0	0	1	0	49	186					A	102482234	G	A	102482234	2	1	79	1	0	0	0	0	0	0	0	1	4857	1132	40	1		1	DYNC1H1	14	102482234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9900	102482234	4867306	15008	25325											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C													atgaatctaatgtgttagatTctggattcctggagcgaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3002	AAA 4. {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)			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						TGTGTTAGATTCTGGATTCCT	0.433																																						ENST00000360184.4																			0				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						c.(9004-9006)Tct>Cct		dynein, cytoplasmic 1, heavy chain 1							120	115	116					14																	102493837		2203	4300	6503	SO:0001583	missense	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.chr14:102493837T>C	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.9004T>C	14.37:g.102493837T>C	ENSP00000348965:p.Ser3002Pro						p.S3002P	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			46	9168	+			3002			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9004T>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653962	0.67472	.	.	ENSG00000197102	ENST00000360184	T	0.43294	0.95	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.120080	0.64402	D	0.000015	T	0.50922	0.1644	L	0.39085	1.19	0.80722	D	1	D	0.53462	0.96	P	0.58077	0.832	T	0.49978	-0.8881	10	0.51188	T	0.08	.	15.961	0.79930	0.0:0.0:0.0:1.0	.	3002	Q14204	DYHC1_HUMAN	P	3002	ENSP00000348965:S3002P	ENSP00000348965:S3002P	S	+	1	0	DYNC1H1	101563590	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	7.755000	0.85180	2.168000	0.68352	0.491000	0.48974	TCT		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		103	486	0	0	0	1	0	103	486					C	102493837	T	C	102493837	3	2	79	1	0	0	0	0	1	0	0	0	4857	1783	62	4	9186	4	DYNC1H1	14	102493837	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11603	102493837	4855703	15009	25326	156	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A													atgtgttagattctggattcCtggagcgaatgaataccctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3005	AAA 4. {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)			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						TTCTGGATTCCTGGAGCGAAT	0.433																																						ENST00000360184.4																			0				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						c.(9013-9015)Ctg>Atg		dynein, cytoplasmic 1, heavy chain 1							123	117	119					14																	102493846		2203	4300	6503	SO:0001583	missense	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.chr14:102493846C>A	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.9013C>A	14.37:g.102493846C>A	ENSP00000348965:p.Leu3005Met						p.L3005M	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			46	9177	+			3005			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9013C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566117	0.65651	.	.	ENSG00000197102	ENST00000360184	T	0.58358	0.34	5.71	2.65	0.31530	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.073611	0.56097	D	0.000040	T	0.80048	0.4552	H	0.98295	4.195	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.81595	-0.0861	10	0.87932	D	0	.	8.3586	0.32346	0.0:0.5972:0.0:0.4028	.	3005	Q14204	DYHC1_HUMAN	M	3005	ENSP00000348965:L3005M	ENSP00000348965:L3005M	L	+	1	2	DYNC1H1	101563599	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.192000	0.32150	0.641000	0.30601	-0.192000	0.12808	CTG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		103	512	1	0	3.68091e-61	1	4.63301e-61	103	512					A	102493846	C	A	102493846	3	1	79	1	0	0	0	0	1	0	0	0	4857	680	24	3	9195	3	DYNC1H1	14	102493846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	102493846	4855694	15010	25327	156	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102498609	102498609	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctgctgccactcagCtgtgaagtcgatcaagaagc	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9884C>A	c.(9883-9885)gCt>gAt	p.A3295D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3295	Stalk. {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)			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						TGCCACTCAGCTGTGAAGTCG	0.567																																						ENST00000360184.4																			0				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						c.e52-1		dynein, cytoplasmic 1, heavy chain 1							210	198	202					14																	102498609		2203	4300	6503	SO:0001630	splice_region_variant	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.chr14:102498609C>A	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.9884-1C>A	14.37:g.102498609C>A							p.A3295_splice	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			52	10048	+			3295			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.9883_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.315928	0.97467	.	.	ENSG00000197102	ENST00000360184	T	0.80653	-1.4	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92794	0.6251	9	.	.	.	.	19.3256	0.94261	0.0:1.0:0.0:0.0	.	3295	Q14204	DYHC1_HUMAN	D	3295	ENSP00000348965:A3295D	.	A	+	2	0	DYNC1H1	101568362	1.000000	0.71417	0.860000	0.33809	0.886000	0.51366	7.729000	0.84864	2.642000	0.89623	0.467000	0.42956	GCT		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Missense_Mutation	24	1439	1	0	9.31168e-06	1	9.55451e-06	24	1439					A	102498609	C	A	102498609	5	1	79	1	0	0	0	0	0	0	1	0	4857	811	28	3	10090	3	DYNC1H1	14	102498609	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	102498609	4850931	15011	25328											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatgcaggaggtggagaCcgtgtcccagcagtacctcc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3796					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)			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						GAGGTGGAGACCGTGTCCCAG	0.577																																						ENST00000360184.4																			0				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						c.(11386-11388)aCc>aAc		dynein, cytoplasmic 1, heavy chain 1							87	80	83					14																	102505518		2203	4300	6503	SO:0001583	missense	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.chr14:102505518C>A	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.11387C>A	14.37:g.102505518C>A	ENSP00000348965:p.Thr3796Asn					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.T3796N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			60	11551	+			3796					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11387C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945605	0.34377	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.97	5.08	0.68730	.	0.173614	0.56097	D	0.000029	T	0.44008	0.1273	L	0.37507	1.11	0.58432	D	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.19590	T	0.45	.	16.7954	0.85600	0.0:0.8609:0.1391:0.0	.	3796	Q14204	DYHC1_HUMAN	N	3796	ENSP00000348965:T3796N	ENSP00000348965:T3796N	T	+	2	0	DYNC1H1	101575271	1.000000	0.71417	0.924000	0.36721	0.976000	0.68499	4.843000	0.62838	1.504000	0.48704	0.655000	0.94253	ACC		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		72	377	1	0	1.43987e-31	1	1.69592e-31	72	377					A	102505518	C	A	102505518	3	1	79	1	0	0	0	0	1	0	0	0	4857	507	18	3	11625	3	DYNC1H1	14	102505518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6909	102505518	4844022	15012	25329											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510214	102510214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactttcctcaccagtcTcccaacgagcgtgcccgctt	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4172	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			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						CTCACCAGTCTCCCAACGAGC	0.507																																						ENST00000360184.4																			0				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						c.(12514-12516)tcT>tcC		dynein, cytoplasmic 1, heavy chain 1							84	81	82					14																	102510214		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102510214T>C	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.12516T>C	14.37:g.102510214T>C						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.S4172S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			70	12680	+			4172			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12516T>C	CCDS9966.1																																																																																				0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	264	0	0	0	1	0	41	264					C	102510214	T	C	102510214	2	2	79	1	0	0	0	0	0	0	0	1	4857	1538	54	4		4	DYNC1H1	14	102510214	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4696	102510214	4839326	15013	25330											
DYNC1H1	1778	broad.mit.edu	37	chr14	102514985	102514985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaactacttgcgcacgCtgatcaacgagctagtgaaa	9	11	1	3	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4451					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)			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						CTTGCGCACGCTGATCAACGA	0.602																																						ENST00000360184.4																			0				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						c.(13351-13353)Ctg>Ttg		dynein, cytoplasmic 1, heavy chain 1							90	74	79					14																	102514985		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102514985C>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.13351C>T	14.37:g.102514985C>T						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.L4451L	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			74	13515	+			4451					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13351C>T	CCDS9966.1																																																																																				0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		32	158	0	0	0	1	0	32	158					T	102514985	C	T	102514985	2	4	79	1	0	0	0	0	0	0	0	1	4857	796	28	2		2	DYNC1H1	14	102514985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4771	102514985	4834555	15014	25331											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttacagcagcactggTatcatcagcagtagggtcat	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000216281.8	-	11	2327	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T830A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	708	Required for homodimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2488-2490)Acc>Gcc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						185	162	170					14																	102548126		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548126T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.2122A>G	14.37:g.102548126T>C	ENSP00000216281:p.Thr708Ala					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T708A	p.T830A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			12	2769	-			708					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2488A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	8.088	0.773911	0.16051	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.08896	3.04;3.04	4.34	4.34	0.51931	.	0.837310	0.10573	U	0.658935	T	0.02012	0.0063	N	0.00560	-1.38	0.25982	N	0.982354	B;B	0.18166	0.009;0.026	B;B	0.20955	0.032;0.017	T	0.45381	-0.9265	10	0.13853	T	0.58	-10.756	1.5499	0.02572	0.1726:0.1003:0.1794:0.5477	.	830;708	P07900-2;P07900	.;HS90A_HUMAN	A	708;830	ENSP00000216281:T708A;ENSP00000335153:T830A	ENSP00000216281:T708A	T	-	1	0	HSP90AA1	101617879	0.708000	0.27876	0.974000	0.42286	0.969000	0.65631	0.679000	0.25291	1.739000	0.51704	0.377000	0.23210	ACC		0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		119	470	0	0	0	1	0	119	470					C	102548126	T	C	102548126	3	2	79	1	0	0	0	0	1	0	0	0	7431	1638	57	4	80	4	HSP90AA1	14	102548126	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33141	102548126	4801414	15015	25332											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccatctcatcaccagaggCagatgtgtagtaccttaaca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000216281.8	-	8	1610	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.A591T|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	469					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1771-1773)Gcc>Acc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						111	108	109					14																	102549964		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549964C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1405G>A	14.37:g.102549964C>T	ENSP00000216281:p.Ala469Thr					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A469T	p.A591T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			9	2052	-			469					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1771G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511341	0.44660	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09817	2.94;2.94;2.94	4.61	4.61	0.57282	Ribosomal protein S5 domain 2-type fold (1);	0.134283	0.49305	U	0.000156	T	0.12646	0.0307	L	0.41492	1.28	0.80722	D	1	B;P;B	0.40638	0.009;0.725;0.236	B;B;B	0.40009	0.008;0.316;0.173	T	0.05784	-1.0864	10	0.41790	T	0.15	-25.0233	17.4958	0.87717	0.0:1.0:0.0:0.0	.	290;591;469	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	469;591;290	ENSP00000216281:A469T;ENSP00000335153:A591T;ENSP00000396189:A290T	ENSP00000216281:A469T	A	-	1	0	HSP90AA1	101619717	1.000000	0.71417	0.886000	0.34754	0.123000	0.20343	3.722000	0.54948	2.299000	0.77371	0.650000	0.86243	GCC		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		70	451	0	0	0	1	0	70	451					T	102549964	C	T	102549964	3	4	79	1	0	0	0	0	1	0	0	0	7431	710	25	2	809	2	HSP90AA1	14	102549964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	102549964	4799576	15016	25333											
RAGE	5891	broad.mit.edu	37	chr14	102695660	102695660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcactatggtgggcaggCgacactgctgcggggcaggc	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695660C>T	ENST00000361847.2	-	12	1457	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	MOK_ENST00000522874.1_Missense_Mutation_p.R408H|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Missense_Mutation_p.R379H|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000524370.1_3'UTR|MOK_ENST00000522534.1_3'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	409					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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.R409H(1)									GGTGGGCAGGCGACACTGCTG	0.582																																						ENST00000361847.2																			1	Substitution - Missense(1)	p.R409H(1)	large_intestine(1)								c.(1225-1227)cGc>cAc		MOK protein kinase							63	62	62					14																	102695660		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695660C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1226G>A	14.37:g.102695660C>T	ENSP00000355304:p.Arg409His					MOK_ENST00000524370.1_3'UTR|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.R379H|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000522874.1_Missense_Mutation_p.R408H	p.R409H	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			12	1457	-			409					B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.1226G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133950	0.09032	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.75589	-0.43;-0.49;-0.95	5.46	-0.693	0.11298	.	0.271371	0.34386	N	0.004016	T	0.50531	0.1621	N	0.17594	0.5	0.48087	D	0.999585	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.21143	-1.0254	10	0.13108	T	0.6	.	9.062	0.36440	0.0:0.4087:0.0:0.5913	.	379;409	E7ERR8;Q9UQ07	.;MOK_HUMAN	H	408;409;379	ENSP00000429469:R408H;ENSP00000355304:R409H;ENSP00000428942:R379H	ENSP00000355304:R409H	R	-	2	0	RAGE	101765413	0.620000	0.27068	0.480000	0.27341	0.124000	0.20399	0.202000	0.17295	0.021000	0.15133	0.561000	0.74099	CGC		0.582	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			53	229	0	0	0	1	0	53	229					T	102695660	C	T	102695660	3	4	79	1	0	0	0	0	1	0	0	0	13056	768	27	1	37	1	RAGE	14	102695660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145696	102695660	4653880	15017	25334											
RAGE	5891	broad.mit.edu	37	chr14	102695911	102695911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacagtctgaccactccCgaaagctttagtttgggcag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695911C>T	ENST00000361847.2	-	11	1296	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	MOK_ENST00000522874.1_Silent_p.S354S|MOK_ENST00000523231.1_Missense_Mutation_p.G50R|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000517966.1_Missense_Mutation_p.G50R|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Silent_p.S325S|MOK_ENST00000522867.1_Missense_Mutation_p.G50R|MOK_ENST00000561150.1_Intron|MOK_ENST00000519058.1_Missense_Mutation_p.G50R|MOK_ENST00000524370.1_Missense_Mutation_p.G50R|MOK_ENST00000522534.1_Missense_Mutation_p.G50R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	355					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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)										TGACCACTCCCGAAAGCTTTA	0.537																																						ENST00000522867.1																			0											c.(148-150)Ggg>Agg		MOK protein kinase							96	90	92					14																	102695911		2203	4300	6503	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695911C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1065G>A	14.37:g.102695911C>T						MOK_ENST00000524370.1_Missense_Mutation_p.G50R|MOK_ENST00000522534.1_Missense_Mutation_p.G50R|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000361847.2_Silent_p.S355S|MOK_ENST00000519058.1_Missense_Mutation_p.G50R|MOK_ENST00000517966.1_Missense_Mutation_p.G50R|MOK_ENST00000524214.1_Silent_p.S325S|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_Missense_Mutation_p.G50R|MOK_ENST00000193029.6_Intron|MOK_ENST00000522874.1_Silent_p.S354S	p.G50R			Q9UQ07	MOK_HUMAN			4	1284	-			147			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.148G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228656	0.22542	.	.	ENSG00000080823	ENST00000519058;ENST00000521937	.	.	.	5.22	-10.4	0.00318	.	.	.	.	.	T	0.22589	0.0545	.	.	.	0.24740	N	0.993042	.	.	.	.	.	.	T	0.36089	-0.9762	5	0.87932	D	0	.	0.7568	0.01000	0.3114:0.1407:0.1513:0.3966	.	.	.	.	R	50;67	.	ENSP00000429672:G50R	G	-	1	0	RAGE	101765664	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-5.850000	0.00094	-2.810000	0.00348	-1.391000	0.01154	GGG		0.537	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			11	387	0	0	0	1	0	11	387					T	102695911	C	T	102695911	2	4	79	1	0	0	0	0	0	0	0	1	13056	639	23	1		1	RAGE	14	102695911	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	102695911	4653629	15018	25335											
ZNF839	55778	broad.mit.edu	37	chr14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtggggctccatatcGccagccctcagctgctcagg	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000558850.1	+	2	438	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	30							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(88-90)Gcc>Acc		zinc finger protein 839							39	45	43					14																	102792469		1944	4155	6099	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792469G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.88G>A	14.37:g.102792469G>A	ENSP00000453363:p.Ala30Thr					ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000558850.1_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	p.A30T	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	443	+			30					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.88G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937686	0.02340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42131	0.98;0.98	4.26	-6.21	0.02065	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.048;0.102;0.102	B;B;B	0.19148	0.011;0.013;0.024	T	0.20140	-1.0284	9	0.16896	T	0.51	.	3.8425	0.08920	0.5386:0.1098:0.2406:0.111	.	146;30;30	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	T	146;30	ENSP00000399863:A146T;ENSP00000262236:A30T	ENSP00000262236:A30T	A	+	1	0	ZNF839	101862222	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.652000	0.05366	-1.733000	0.01357	-1.060000	0.02296	GCC		0.582	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		36	153	0	0	0	1	0	36	153					A	102792469	G	A	102792469	3	1	79	1	0	0	0	0	1	0	0	0	18241	1087	38	1	442	1	ZNF839	14	102792469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96558	102792469	4557071	15019	25336											
CINP	51550	broad.mit.edu	37	chr14	102822114	102822114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtcttaccaacccatcCaaggtggcctgcagttcctc	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	99					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(295-297)ttG>ttA		cyclin-dependent kinase 2 interacting protein							218	166	184					14																	102822114		2203	4300	6503	SO:0001819	synonymous_variant	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102822114C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.297G>A	14.37:g.102822114C>T						CINP_ENST00000541568.2_Silent_p.L99L|CINP_ENST00000536961.2_Silent_p.L114L	p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			3	337	-			99					F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	37	c.297G>A	CCDS9972.1																																																																																				0.498	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		92	406	0	0	0	1	0	92	406					T	102822114	C	T	102822114	2	4	79	1	0	0	0	0	0	0	0	1	3440	593	21	2		2	CINP	14	102822114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29645	102822114	4527426	15020	25337											
TECPR2	9895	broad.mit.edu	37	chr14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgatggaccaaataGcacacagttacccttccaag	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	610					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACCAAATAGCACACAGTTA	0.567																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1828-1830)aGc>aTc		tectonin beta-propeller repeat containing 2							90	60	70					14																	102900983		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102900983G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1829G>T	14.37:g.102900983G>T	ENSP00000352510:p.Ser610Ile					TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2055	+			610					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1829G>T	CCDS32162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.684223|1.684223	0.29872|0.29872	.|.	.|.	ENSG00000196663|ENSG00000196663	ENST00000380088|ENST00000359520	.|T	.|0.15603	.|2.41	4.59|4.59	1.58|1.58	0.23477|0.23477	.|.	.|1.679610	.|0.02402	.|N	.|0.080727	.|T	.|0.11324	.|0.0276	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.23726	.|-1.0180	.|9	.|.	.|.	.|.	.|.	3.6399|3.6399	0.08163|0.08163	0.0829:0.1333:0.3749:0.4089|0.0829:0.1333:0.3749:0.4089	.|.	.|610;610	.|A5PKY3;O15040	.|.;TCPR2_HUMAN	.|I	-1|610	.|ENSP00000352510:S610I	.|.	.|S	+|+	.|2	.|0	TECPR2|TECPR2	101970736|101970736	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.341000|0.341000	0.28922|0.28922	-0.853000|-0.853000	0.04303|0.04303	0.140000|0.140000	0.18849|0.18849	0.555000|0.555000	0.69702|0.69702	.|AGC		0.567	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		9	171	1	0	1.76689e-08	1	1.84553e-08	9	171					T	102900983	G	T	102900983	3	4	79	1	0	0	0	0	1	0	0	0	15796	971	34	3	1859	3	TECPR2	14	102900983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78869	102900983	4448557	15021	25338											
TECPR2	9895	broad.mit.edu	37	chr14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgctgaacagtggctgCctgggaccagagctgatgaa	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	665					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACAGTGGCTGCCTGGGACCAG	0.597																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1993-1995)Cct>Tct		tectonin beta-propeller repeat containing 2							26	27	26					14																	102901147		2202	4300	6502	SO:0001583	missense	9895						protein binding	g.chr14:102901147C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1993C>T	14.37:g.102901147C>T	ENSP00000352510:p.Pro665Ser					TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2219	+			665					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1993C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393809	0.42410	.	.	ENSG00000196663	ENST00000359520	T	0.13778	2.56	5.46	4.52	0.55395	.	0.643972	0.12979	N	0.423492	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	P;P	0.36048	0.534;0.534	B;B	0.34138	0.176;0.176	T	0.17379	-1.0371	9	.	.	.	.	10.1963	0.43056	0.1591:0.7047:0.1362:0.0	.	665;665	A5PKY3;O15040	.;TCPR2_HUMAN	S	665	ENSP00000352510:P665S	.	P	+	1	0	TECPR2	101970900	0.000000	0.05858	0.010000	0.14722	0.110000	0.19582	0.082000	0.14847	2.576000	0.86940	0.555000	0.69702	CCT		0.597	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		28	171	0	0	0	1	0	28	171					T	102901147	C	T	102901147	3	4	79	1	0	0	0	0	1	0	0	0	15796	739	26	2	2023	2	TECPR2	14	102901147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	102901147	4448393	15022	25339											
RCOR1	23186	broad.mit.edu	37	chr14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A													gtgaaattttactattcttgGaagaagacgaggactaaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000570597.1	+	6	699	c.699G>A	c.(697-699)tgG>tgA	p.W233*	RCOR1_ENST00000262241.6_Nonsense_Mutation_p.W236*			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	233	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(706-708)tgG>tgA		REST corepressor 1							153	172	166					14																	103174849		2203	4300	6503	SO:0001587	stop_gained	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174849G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.699G>A	14.37:g.103174849G>A	ENSP00000459789:p.Trp233*					RCOR1_ENST00000570597.1_Nonsense_Mutation_p.W233*	p.W236*	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	934	+			233			Interaction with HDAC1.|SANT 1.		Q15044|Q6P2I9|Q86VG5	Nonsense_Mutation	SNP	ENST00000570597.1	37	c.708G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.449281	0.98292	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9651	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000262241:W233X	W	+	3	0	RCOR1	102244602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.778000	0.95560	0.655000	0.94253	TGG		0.383	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		249	1140	0	0	0	1	0	249	1140					A	103174849	G	A	103174849	4	1	79	1	0	0	0	0	0	1	0	0	13232	1183	41	2	721	2	RCOR1	14	103174849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273702	103174849	4174691	15023	25340	157	2									
RCOR1	23186	broad.mit.edu	37	chr14	103174857	103174857	+	Missense_Mutation	SNP	C	C	T													ttactattcttggaagaagaCgaggactaaaactagtgtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174857C>T	ENST00000570597.1	+	6	707	c.707C>T	c.(706-708)aCg>aTg	p.T236M	RCOR1_ENST00000262241.6_Missense_Mutation_p.T239M			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	236	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TGGAAGAAGACGAGGACTAAA	0.403																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(715-717)aCg>aTg		REST corepressor 1							152	169	164					14																	103174857		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174857C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.707C>T	14.37:g.103174857C>T	ENSP00000459789:p.Thr236Met					RCOR1_ENST00000570597.1_Missense_Mutation_p.T236M	p.T239M	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	942	+			236			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.716C>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.180935	0.78677	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.78	5.78	0.91487	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.048767	0.85682	D	0.000000	D	0.83764	0.5325	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.85306	0.1076	9	0.87932	D	0	-19.5135	20.012	0.97458	0.0:1.0:0.0:0.0	.	236	Q9UKL0	RCOR1_HUMAN	M	236	.	ENSP00000262241:T236M	T	+	2	0	RCOR1	102244610	0.993000	0.37304	0.960000	0.40013	0.985000	0.73830	2.985000	0.49362	2.731000	0.93534	0.655000	0.94253	ACG		0.403	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		20	1323	0	0	0	1	0	20	1323					T	103174857	C	T	103174857	3	4	79	1	0	0	0	0	1	0	0	0	13232	536	19	1	729	1	RCOR1	14	103174857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	103174857	4174683	15024	25341	157	2									
CDC42BPB	9578	broad.mit.edu	37	chr14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctggatggaggctggCgagccaggttggtgggagcg	20	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGAGGCTGGCGAGCCAGGTT	0.662																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4885-4887)cGc>cAc		CDC42 binding protein kinase beta (DMPK-like)							60	70	67					14																	103404690		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103404690C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4886G>A	14.37:g.103404690C>T	ENSP00000355237:p.Arg1629His						p.R1629H	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	35	5174	-		Melanoma(154;0.155)	1629						Missense_Mutation	SNP	ENST00000361246.2	37	c.4886G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225273	0.39300	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	4.89	4.89	0.63831	.	0.195819	0.45361	D	0.000368	T	0.65471	0.2694	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.48270	0.572	T	0.65129	-0.6243	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	1629	Q9Y5S2	MRCKB_HUMAN	H	1629	ENSP00000355237:R1629H	ENSP00000355237:R1629H	R	-	2	0	CDC42BPB	102474443	1.000000	0.71417	0.970000	0.41538	0.148000	0.21650	6.221000	0.72243	2.251000	0.74343	0.561000	0.74099	CGC		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		21	662	0	0	0	1	0	21	662					T	103404690	C	T	103404690	3	4	79	1	0	0	0	0	1	0	0	0	3082	768	27	1	261	1	CDC42BPB	14	103404690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229833	103404690	3944850	15025	25342											
CDC42BPB	9578	broad.mit.edu	37	chr14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccagacatacctttccGttgtgaatgtaaaaccaatg	6	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATACCTTTCCGTTGTGAATGT	0.453																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1213-1215)aCg>aTg		CDC42 binding protein kinase beta (DMPK-like)							113	98	103					14																	103444469		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103444469G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1214C>T	14.37:g.103444469G>A	ENSP00000355237:p.Thr405Met						p.T405M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	9	1502	-		Melanoma(154;0.155)	405			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1214C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069583	0.76301	.	.	ENSG00000198752	ENST00000361246	T	0.64260	-0.09	5.3	5.3	0.74995	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	D	0.64776	0.929	T	0.75309	-0.3363	10	0.54805	T	0.06	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	405	Q9Y5S2	MRCKB_HUMAN	M	405	ENSP00000355237:T405M	ENSP00000355237:T405M	T	-	2	0	CDC42BPB	102514222	1.000000	0.71417	0.789000	0.31954	0.639000	0.38242	5.293000	0.65680	2.481000	0.83766	0.655000	0.94253	ACG		0.453	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		43	217	0	0	0	1	0	43	217					A	103444469	G	A	103444469	3	1	79	1	0	0	0	0	1	0	0	0	3082	1145	40	1	4037	1	CDC42BPB	14	103444469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39779	103444469	3905071	15026	25343											
C14orf73	91828	broad.mit.edu	37	chr14	103566837	103566837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcaagccctgaatgacgGcccagctaccggccattccc	10	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103566837G>A	ENST00000380069.3	+	1	357	c.281G>A	c.(280-282)gGc>gAc	p.G94D	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	94					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTGAATGACGGCCCAGCTACC	0.642																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(280-282)gGc>gAc		exocyst complex component 3-like 4							20	21	21					14																	103566837		2203	4298	6501	SO:0001583	missense	91828							g.chr14:103566837G>A	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.281G>A	14.37:g.103566837G>A	ENSP00000369409:p.Gly94Asp						p.G94D	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			1	357	+			94					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.281G>A	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827958	0.50845	.	.	ENSG00000205436	ENST00000380069	T	0.05258	3.47	3.06	3.06	0.35304	.	0.089659	0.41938	D	0.000782	T	0.07908	0.0198	L	0.36672	1.1	0.09310	N	1	D	0.54207	0.965	P	0.51016	0.656	T	0.28202	-1.0051	10	0.15066	T	0.55	-17.8304	9.8635	0.41129	0.0:0.0:1.0:0.0	.	94	Q17RC7	EX3L4_HUMAN	D	94	ENSP00000369409:G94D	ENSP00000369409:G94D	G	+	2	0	EXOC3L4	102636590	0.018000	0.18449	0.005000	0.12908	0.078000	0.17371	2.402000	0.44521	2.017000	0.59298	0.462000	0.41574	GGC		0.642	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		34	105	0	0	0	1	0	34	105					A	103566837	G	A	103566837	3	1	79	1	0	0	0	0	1	0	0	0	1784	1203	42	2	283	2	C14orf73	14	103566837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122368	103566837	3782703	15027	25344											
C14orf73	91828	broad.mit.edu	37	chr14	103573842	103573842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaaggtggtgaccttcGccggtcatctccagcgtgtg	14	11	2	1	rs150993709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103573842G>A	ENST00000380069.3	+	8	1739	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	555					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGTGACCTTCGCCGGTCATCT	0.677																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1663-1665)Gcc>Acc		exocyst complex component 3-like 4		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	50	49	49		1663	1.4	0	14	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	missense	EXOC3L4	NM_001077594.1	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	555/723	103573842	3,13003	2203	4300	6503	SO:0001583	missense	91828							g.chr14:103573842G>A	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1663G>A	14.37:g.103573842G>A	ENSP00000369409:p.Ala555Thr						p.A555T	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			8	1739	+			555					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.1663G>A	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094670	0.08681	2.27E-4	2.33E-4	ENSG00000205436	ENST00000380069	T	0.06687	3.27	4.33	1.43	0.22495	.	0.253320	0.32372	N	0.006189	T	0.07683	0.0193	M	0.62723	1.935	0.09310	N	1	B	0.30973	0.302	B	0.26614	0.071	T	0.34054	-0.9844	10	0.23891	T	0.37	-6.0581	6.0282	0.19665	0.1851:0.0:0.6632:0.1517	.	555	Q17RC7	EX3L4_HUMAN	T	555	ENSP00000369409:A555T	ENSP00000369409:A555T	A	+	1	0	EXOC3L4	102643595	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	1.659000	0.37387	-0.107000	0.12088	-1.786000	0.00637	GCC		0.677	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		24	281	0	0	0	1	0	24	281					A	103573842	G	A	103573842	3	1	79	1	0	0	0	0	1	0	0	0	1784	1087	38	1	1693	1	C14orf73	14	103573842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7005	103573842	3775698	15028	25345											
TNFAIP2	7127	broad.mit.edu	37	chr14	103597432	103597432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagagaggcaagcagCtgacgaattacagggccaat	13	8	1	2	rs374639192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000451723.2_Silent_p.L84L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000333007.1_Silent_p.L415L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	415					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1243-1245)Ctg>Ttg		tumor necrosis factor, alpha-induced protein 2							105	92	96					14																	103597432		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103597432C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"exocyst complex component 3-like 3"	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1243C>T	14.37:g.103597432C>T						TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000451723.2_Silent_p.L84L	p.L415L			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		7	1882	+		Melanoma(154;0.155)	415					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.1243C>T	CCDS9979.1																																																																																				0.557	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		86	397	0	0	0	1	0	86	397					T	103597432	C	T	103597432	2	4	79	1	0	0	0	0	0	0	0	1	16325	796	28	2		2	TNFAIP2	14	103597432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23590	103597432	3752108	15029	25346											
EIF5	1983	broad.mit.edu	37	chr14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaggcgccatttcctaCgagtaagcaaagtgctctgg	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	302	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(904-906)Cga>Tga		eukaryotic translation initiation factor 5							63	68	67					14																	103805668		2203	4300	6503	SO:0001587	stop_gained	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103805668C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.904C>T	14.37:g.103805668C>T	ENSP00000216554:p.Arg302*					EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*|EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*	p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		9	1580	+		Melanoma(154;0.155)	302			W2.		Q53XB3|Q9H5N2|Q9UG48	Nonsense_Mutation	SNP	ENST00000216554.3	37	c.904C>T	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	42	9.308945	0.99132	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.39	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4976	13.3204	0.60430	0.3965:0.6035:0.0:0.0	.	.	.	.	X	302	.	ENSP00000216554:R302X	R	+	1	2	EIF5	102875421	0.999000	0.42202	0.856000	0.33681	0.561000	0.35649	1.540000	0.36115	0.160000	0.19432	0.460000	0.39030	CGA		0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		60	352	0	0	0	1	0	60	352					T	103805668	C	T	103805668	4	4	79	1	0	0	0	0	0	1	0	0	5058	528	19	1	930	1	EIF5	14	103805668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208236	103805668	3543872	15030	25347											
MARK3	4140	broad.mit.edu	37	chr14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatctctttagtaaattaaCttcaaaactcacaaggaggt	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	609						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTAAATTAACTTCAAAACTC	0.463																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1825-1827)aCt>aAt		MAP/microtubule affinity-regulating kinase 3							51	48	49					14																	103958353		1893	4110	6003	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103958353C>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1826C>A	14.37:g.103958353C>A	ENSP00000411397:p.Thr609Asn					MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N	p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		15	2336	+		Melanoma(154;0.155)	609					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1826C>A	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849609|4.849609	0.91277|0.91277	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.95;0.42;0.95;0.95;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.042880	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;P;B;B;B;D;P;B	.|0.71674	.|0.961;0.63;0.105;0.015;0.273;0.998;0.861;0.039	.|P;B;B;B;B;D;P;B	.|0.78314	.|0.838;0.41;0.099;0.132;0.23;0.991;0.591;0.099	T|T	0.77638|0.77638	-0.2513|-0.2513	5|10	.|0.54805	.|T	.|0.06	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;196;632;593;609;530;609;609	.|P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;MARK3_HUMAN;.;.;.	I|N	361|632;310;530;632;609;609;593;609;196	.|ENSP00000335347:T632N;ENSP00000402104:T530N;ENSP00000408092:T632N;ENSP00000411397:T609N;ENSP00000303698:T609N;ENSP00000216288:T593N;ENSP00000450772:T609N;ENSP00000451623:T196N	.|ENSP00000216288:T609N	L|T	+|+	1|2	0|0	MARK3|MARK3	103028106|103028106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.485000|7.485000	0.81204|0.81204	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.463	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		49	201	1	0	4.86159e-25	1	5.57236e-25	49	201					A	103958353	C	A	103958353	3	1	79	1	0	0	0	0	1	0	0	0	9355	565	20	3	1884	3	MARK3	14	103958353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152685	103958353	3391187	15031	25348											
MARK3	4140	broad.mit.edu	37	chr14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccgcaaagtgttggacgCcaataactgcgactatgagc	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	685						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTGTTGGACGCCAATAACTGC	0.552																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2053-2055)gCc>gTc		MAP/microtubule affinity-regulating kinase 3							71	73	72					14																	103969356		2062	4221	6283	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969356C>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2054C>T	14.37:g.103969356C>T	ENSP00000411397:p.Ala685Val					MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V	p.A685V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2564	+		Melanoma(154;0.155)	685					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.2054C>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994032|4.994032	0.93167|0.93167	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81983|0.81983	0.4938|0.4938	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;D;B;B|.	0.63046|.	0.943;0.347;0.272;0.338;0.434;0.062;0.992;0.149;0.272|.	P;B;B;B;B;B;P;B;B|.	0.58721|.	0.844;0.075;0.209;0.03;0.249;0.178;0.778;0.139;0.209|.	T|T	0.79955|0.79955	-0.1585|-0.1585	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692;263;684;394;645;685;591;676;661|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	708;377;591;684;685;661;645;676;263|437	ENSP00000335347:A708V;ENSP00000402104:A591V;ENSP00000408092:A684V;ENSP00000411397:A685V;ENSP00000303698:A661V;ENSP00000216288:A645V;ENSP00000450772:A676V;ENSP00000451623:A263V|.	ENSP00000216288:A676V|.	A|P	+|+	2|1	0|0	MARK3|MARK3	103039109|103039109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	5.875000|5.875000	0.69660|0.69660	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.552	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		54	231	0	0	0	1	0	54	231					T	103969356	C	T	103969356	3	4	79	1	0	0	0	0	1	0	0	0	9355	739	26	2	2124	2	MARK3	14	103969356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11003	103969356	3380184	15032	25349											
MARK3	4140	broad.mit.edu	37	chr14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctcgtgcagtgggaaatGgaagtgtgcaagctgccaag	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	715	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTGGGAAATGGAAGTGTGCA	0.527																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2143-2145)atG>atT		MAP/microtubule affinity-regulating kinase 3							64	66	65					14																	103969447		2034	4215	6249	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969447G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2145G>T	14.37:g.103969447G>T	ENSP00000411397:p.Met715Ile					MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I	p.M715I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2655	+		Melanoma(154;0.155)	715			KA1.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.2145G>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.697104|2.697104	0.48202|0.48202	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.105274|.	0.85682|.	D|.	0.000000|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;D;B;P;B;B;P;B;B|.	0.56746|.	0.168;0.977;0.168;0.932;0.162;0.035;0.454;0.264;0.289|.	B;D;B;D;B;B;B;B;B|.	0.63488|.	0.192;0.912;0.101;0.915;0.075;0.134;0.266;0.175;0.192|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.22706|.	T|.	0.39|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	722;293;714;424;675;715;621;706;691|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	738;407;621;714;715;691;675;706;293|467	ENSP00000335347:M738I;ENSP00000402104:M621I;ENSP00000408092:M714I;ENSP00000411397:M715I;ENSP00000303698:M691I;ENSP00000216288:M675I;ENSP00000450772:M706I;ENSP00000451623:M293I|.	ENSP00000216288:M706I|.	M|W	+|+	3|2	0|0	MARK3|MARK3	103039200|103039200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	9.807000|9.807000	0.99171|0.99171	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.527	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		69	267	1	0	2.05175e-36	1	2.45602e-36	69	267					T	103969447	G	T	103969447	3	4	79	1	0	0	0	0	1	0	0	0	9355	1348	47	3	2215	3	MARK3	14	103969447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	103969447	3380093	15033	25350											
CKB	1152	broad.mit.edu	37	chr14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtcctcggccgggaagCgcagcttcagtgcgttgtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			0				lung(2)|prostate(1)	3						c.(37-39)cGc>cAc		creatine kinase, brain	Creatine(DB00148)						59	53	55					14																	103988793		2202	4300	6502	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103988793C>T		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.38G>A	14.37:g.103988793C>T	ENSP00000299198:p.Arg13His						p.R13H	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	Epithelial(46;0.14)		2	395	-		Melanoma(154;0.155)	13			Phosphagen kinase N-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.38G>A	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524213	0.44866	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.63580	-0.05;-0.05	4.17	3.28	0.37604	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.50820	0.1638	L	0.50333	1.59	0.32913	D	0.514826	B	0.02656	0.0	B	0.01281	0.0	T	0.57579	-0.7787	10	0.72032	D	0.01	0.7127	5.0339	0.14424	0.0:0.6137:0.0:0.3863	.	13	P12277	KCRB_HUMAN	H	13	ENSP00000299198:R13H;ENSP00000451904:R13H	ENSP00000299198:R13H	R	-	2	0	CKB	103058546	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.145000	0.42207	1.001000	0.39076	0.297000	0.19635	CGC		0.711	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			33	133	0	0	0	1	0	33	133					T	103988793	C	T	103988793	3	4	79	1	0	0	0	0	1	0	0	0	3455	768	27	1	1135	1	CKB	14	103988793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19346	103988793	3360747	15034	25351											
TRMT61A	115708	broad.mit.edu	37	chr14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgaacctgccgcaccGcacgcagatcctctactcca	8	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	83						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642																																						ENST00000389749.4																			0				skin(1)	1						c.(247-249)cGc>cAc		tRNA methyltransferase 61 homolog A (S. cerevisiae)							82	91	88					14																	103996563		2185	4284	6469	SO:0001583	missense	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996563G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.248G>A	14.37:g.103996563G>A	ENSP00000374399:p.Arg83His						p.R83H	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			2	355	+			83					A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	c.248G>A	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406675	0.96051	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.61742	0.08	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87926	0.2707	10	0.52906	T	0.07	-11.4544	16.8232	0.85924	0.0:0.0:1.0:0.0	.	83	Q96FX7	TRM61_HUMAN	H	83	ENSP00000374399:R83H	ENSP00000299201:R83H	R	+	2	0	TRMT61A	103066316	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.448000	0.97600	2.186000	0.69663	0.462000	0.41574	CGC		0.642	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		134	651	0	0	0	1	0	134	651					A	103996563	G	A	103996563	3	1	79	1	0	0	0	0	1	0	0	0	16622	1087	38	1	250	1	TRMT61A	14	103996563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7770	103996563	3352977	15035	25352											
BAG5	9529	broad.mit.edu	37	chr14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaagtcaatatatgTgatcagagtttgcacctcga	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	344	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCAATATATGTGATCAGAGTT	0.478																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(1030-1032)Aca>Gca		BCL2-associated athanogene 5							90	96	94					14																	104026472		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026472T>C	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1030A>G	14.37:g.104026472T>C	ENSP00000391713:p.Thr344Ala					BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A	p.T344A	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	1276	-		Melanoma(154;0.155)	344			BAG 4.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.1030A>G	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865222	0.51482	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87491	-2.26;-2.26;-2.26	5.76	5.76	0.90799	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91468	0.5194	10	0.87932	D	0	-26.7047	16.0833	0.81020	0.0:0.0:0.0:1.0	.	344;385	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	A	344;344;385	ENSP00000299204:T344A;ENSP00000391713:T344A;ENSP00000338814:T385A	ENSP00000299204:T344A	T	-	1	0	BAG5	103096225	1.000000	0.71417	0.708000	0.30435	0.026000	0.11368	7.210000	0.77924	2.202000	0.70862	0.533000	0.62120	ACA		0.478	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			135	488	0	0	0	1	0	135	488					C	104026472	T	C	104026472	3	2	79	1	0	0	0	0	1	0	0	0	1291	1696	59	4	317	4	BAG5	14	104026472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29909	104026472	3323068	15036	25353											
KLC1	3831	broad.mit.edu	37	chr14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatttgaagctgcagaaaCgttagaagaagctgctatga	10	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000348520.6	+	12	1773	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	485					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)		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)				GCTGCAGAAACGTTAGAAGAA	0.418																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(1453-1455)aCg>aTg		kinesin light chain 1							147	141	143					14																	104143826		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.chr14:104143826C>T	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.1454C>T	14.37:g.104143826C>T	ENSP00000341154:p.Thr485Met					KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000348520.6_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M	p.T485M			Q07866	KLC1_HUMAN			12	1723	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	485					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.1454C>T	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694657|4.694657	0.88830|0.88830	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.|T;D;T;T;T;T;T;T;T;D;T;T;D;T	.|0.85258	.|-1.37;-1.85;-1.36;-1.36;-1.36;-1.37;-1.37;-1.36;-1.37;-1.96;-1.37;-1.36;-1.95;-0.62	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.090866	.|0.85682	.|D	.|0.000000	D|D	0.92580|0.92580	0.7643|0.7643	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;1.0;0.997	D|D	0.91455|0.91455	0.5184|0.5184	5|10	.|0.42905	.|T	.|0.14	-10.5759|-10.5759	19.7987|19.7987	0.96497|0.96497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|485;485;657;485;483	.|F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.|.;.;.;KLC1_HUMAN;.	C|M	65;61;59|485;485;485;485;485;485;485;485;485;485;485;485;485;483;657	.|ENSP00000341154:T485M;ENSP00000369377:T485M;ENSP00000374394:T485M;ENSP00000450617:T485M;ENSP00000452487:T485M;ENSP00000334618:T485M;ENSP00000452481:T485M;ENSP00000334523:T485M;ENSP00000246489:T485M;ENSP00000450648:T485M;ENSP00000451242:T485M;ENSP00000414982:T485M;ENSP00000412693:T483M;ENSP00000439065:T657M	.|ENSP00000246489:T485M	R|T	+|+	1|2	0|0	KLC1|KLC1;RP11-73M18.2	103213579|103213579	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.816000|0.816000	0.46133|0.46133	7.776000|7.776000	0.85560|0.85560	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		81	410	0	0	0	1	0	81	410					T	104143826	C	T	104143826	3	4	79	1	0	0	0	0	1	0	0	0	8363	536	19	1	1496	1	KLC1	14	104143826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117354	104143826	3205714	15037	25354											
TDRD9	122402	broad.mit.edu	37	chr14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatttttttgcaatGcctttccggcagcatctcga	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	638					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTTTGCAATGCCTTTCCGGC	0.328																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(1912-1914)atG>atA		tudor domain containing 9							58	59	58					14																	104473017		2203	4299	6502	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104473017G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1914G>A	14.37:g.104473017G>A	ENSP00000387303:p.Met638Ile					TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			17	1962	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	638					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1914G>A	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699403|1.699403	0.30142|0.30142	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.02446	.|4.29;4.29	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Helicase-associated domain (2);	.|0.184337	.|0.47093	.|N	.|0.000243	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.14661|0.14661	0.345|0.345	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B	.|0.23058	.|0.079;0.002	.|B;B	.|0.20577	.|0.021;0.03	T|T	0.56798|0.56798	-0.7919|-0.7919	5|10	.|0.34782	.|T	.|0.22	.|.	7.8697|7.8697	0.29558|0.29558	0.1432:0.0:0.7243:0.1325|0.1432:0.0:0.7243:0.1325	.|.	.|638;638	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	T|I	365|638	.|ENSP00000387303:M638I;ENSP00000343545:M638I	.|ENSP00000343545:M638I	A|M	+|+	1|3	0|0	TDRD9|TDRD9	103542770|103542770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.605000|2.605000	0.46283|0.46283	1.310000|1.310000	0.45006|0.45006	0.563000|0.563000	0.77884|0.77884	GCC|ATG		0.328	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		23	140	0	0	0	1	0	23	140					A	104473017	G	A	104473017	3	1	79	1	0	0	0	0	1	0	0	0	15788	1319	46	2	1980	2	TDRD9	14	104473017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329191	104473017	2876523	15038	25355											
KIF26A	26153	broad.mit.edu	37	chr14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgcgggacctgctggccGaggtggcccctggcagcctc	16	16	0	0	rs200636236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000423312.2	+	8	1606	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	KIF26A_ENST00000315264.7_Missense_Mutation_p.E397K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	536	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1189-1191)Gag>Aag		kinesin family member 26A		G	LYS/GLU	1,4051		0,1,2025	12	18	16		1606	3.3	0.9	14		16	1,8273		0,1,4136	yes	missense	KIF26A	NM_015656.1	56	0,2,6161	AA,AG,GG		0.0121,0.0247,0.0162	possibly-damaging	536/1883	104639499	2,12324	2026	4137	6163	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639499G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1606G>A	14.37:g.104639499G>A	ENSP00000388241:p.Glu536Lys					KIF26A_ENST00000423312.2_Missense_Mutation_p.E536K	p.E397K			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1567	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	536			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1189G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442707	0.83993	2.47E-4	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.43294	0.95;0.95	5.18	3.31	0.37934	Kinesin, motor domain (4);	.	.	.	.	T	0.31544	0.0800	N	0.20845	0.615	0.49582	D	0.999808	D	0.57571	0.98	P	0.47044	0.535	T	0.02639	-1.1130	9	0.39692	T	0.17	.	9.8426	0.41008	0.0733:0.0:0.7873:0.1395	.	536	Q9ULI4	KI26A_HUMAN	K	536;397	ENSP00000388241:E536K;ENSP00000325452:E397K	ENSP00000325452:E397K	E	+	1	0	KIF26A	103709252	1.000000	0.71417	0.884000	0.34674	0.801000	0.45260	9.524000	0.98036	0.536000	0.28733	0.462000	0.41574	GAG		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			16	103	0	0	0	1	0	16	103					A	104639499	G	A	104639499	3	1	79	1	0	0	0	0	1	0	0	0	8324	1059	37	1	1636	1	KIF26A	14	104639499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166482	104639499	2710041	15039	25356											
KIF26A	26153	broad.mit.edu	37	chr14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacccgtgtgggctgtGctcgcctgggccagagccca	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000423312.2	+	12	3676	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A1087T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1226					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3259-3261)Gct>Act		kinesin family member 26A							20	25	23					14																	104642801		2020	4160	6180	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642801G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3676G>A	14.37:g.104642801G>A	ENSP00000388241:p.Ala1226Thr					KIF26A_ENST00000423312.2_Missense_Mutation_p.A1226T	p.A1087T			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3637	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1226					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3259G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204088	0.01581	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77877	-1.13;-1.12	3.23	-6.45	0.01914	.	.	.	.	.	T	0.59032	0.2164	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.21014	T	0.42	.	4.4235	0.11492	0.2471:0.1681:0.5003:0.0846	.	1226	Q9ULI4	KI26A_HUMAN	T	1226;1087	ENSP00000388241:A1226T;ENSP00000325452:A1087T	ENSP00000325452:A1087T	A	+	1	0	KIF26A	103712554	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.406000	0.21032	-2.983000	0.00282	-1.021000	0.02439	GCT		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			43	166	0	0	0	1	0	43	166					A	104642801	G	A	104642801	3	1	79	1	0	0	0	0	1	0	0	0	8324	1319	46	2	3722	2	KIF26A	14	104642801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3302	104642801	2706739	15040	25357											
TMEM179	388021	broad.mit.edu	37	chr14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggaggttcaggaaggCggagaagaaggagctgcagc	18	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000556573.1	-	2	560	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000341595.3_Missense_Mutation_p.A107T			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	107						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632																																						ENST00000341595.3																			0				endometrium(1)|lung(2)|skin(1)	4						c.(319-321)Gcc>Acc		transmembrane protein 179							66	45	53					14																	105063451		2199	4296	6495	SO:0001583	missense	388021					integral to membrane		g.chr14:105063451C>T	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 90"	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.319G>A	14.37:g.105063451C>T	ENSP00000450958:p.Ala107Thr					TMEM179_ENST00000556573.1_Missense_Mutation_p.A107T	p.A107T	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)	2	1224	-			107						Missense_Mutation	SNP	ENST00000556573.1	37	c.319G>A		.	.	.	.	.	.	.	.	.	.	C	13.74	2.326812	0.41197	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.17054	2.3;2.3;2.3	3.45	2.46	0.29980	.	0.444482	0.23160	N	0.051254	T	0.15825	0.0381	L	0.52126	1.63	0.42111	D	0.991384	P	0.52170	0.951	B	0.40134	0.32	T	0.13361	-1.0512	10	0.51188	T	0.08	.	12.3378	0.55077	0.1687:0.8313:0.0:0.0	.	107	Q6ZVK1-2	.	T	107	ENSP00000397763:A107T;ENSP00000450958:A107T;ENSP00000340477:A107T	ENSP00000340477:A107T	A	-	1	0	RP11-614O9.3;TMEM179	104134496	0.996000	0.38824	0.841000	0.33234	0.539000	0.34962	3.407000	0.52644	1.640000	0.50565	0.442000	0.29010	GCC		0.632	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		13	34	0	0	0	1	0	13	34					T	105063451	C	T	105063451	3	4	79	1	0	0	0	0	1	0	0	0	16148	768	27	1	282	1	TMEM179	14	105063451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420650	105063451	2286089	15041	25358											
INF2	64423	broad.mit.edu	37	chr14	105174179	105174179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccactactgccctgcacCtgcagcccccccgtggcggg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174179C>T	ENST00000392634.4	+	8	1687	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	INF2_ENST00000330634.7_Silent_p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	525					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCCCTGCACCTGCAGCCCCC	0.716																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1573-1575)acC>acT		inverted formin, FH2 and WH2 domain containing							13	15	14					14																	105174179		1920	4080	6000	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174179C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1575C>T	14.37:g.105174179C>T						INF2_ENST00000330634.7_Silent_p.T525T	p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1687	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	525					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1575C>T	CCDS9989.2																																																																																				0.716	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		8	101	0	0	0	1	0	8	101					T	105174179	C	T	105174179	2	4	79	1	0	0	0	0	0	0	0	1	7764	668	24	2		2	INF2	14	105174179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110728	105174179	2175361	15042	25359											
INF2	64423	broad.mit.edu	37	chr14	105174224	105174224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaggaggtcatcgtggcCcaggtggaccatggcttggg	18	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	ENST00000392634.4	+	8	1732	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_ENST00000330634.7_Silent_p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	540					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCGTGGCCCAGGTGGACC	0.667																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1618-1620)gcC>gcT		inverted formin, FH2 and WH2 domain containing							28	31	30					14																	105174224		2079	4194	6273	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174224C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1620C>T	14.37:g.105174224C>T						INF2_ENST00000330634.7_Silent_p.A540A	p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1732	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	540					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1620C>T	CCDS9989.2																																																																																				0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		30	160	0	0	0	1	0	30	160					T	105174224	C	T	105174224	2	4	79	1	0	0	0	0	0	0	0	1	7764	610	22	2		2	INF2	14	105174224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	105174224	2175316	15043	25360											
INF2	64423	broad.mit.edu	37	chr14	105177986	105177986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggaaaagagccacccCgacctcctgcagctgccccg	11	17	0	1	rs543495305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	813	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15515	0.0		0.0	False		,,,				2504	0.0					ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2437-2439)ccC>ccT		inverted formin, FH2 and WH2 domain containing							53	69	64					14																	105177986		2051	4192	6243	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105177986C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2439C>T	14.37:g.105177986C>T						INF2_ENST00000330634.7_Silent_p.P813P	p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	16	2551	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	813			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2439C>T	CCDS9989.2																																																																																				0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		32	193	0	0	0	1	0	32	193					T	105177986	C	T	105177986	2	4	79	1	0	0	0	0	0	0	0	1	7764	639	23	1		1	INF2	14	105177986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3762	105177986	2171554	15044	25361											
INF2	64423	broad.mit.edu	37	chr14	105179212	105179212	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagctgtttgaggccatCgagcagaagcaacgggagct	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	886	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2656-2658)atC>atT		inverted formin, FH2 and WH2 domain containing							35	39	38					14																	105179212		2075	4210	6285	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179212C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2658C>T	14.37:g.105179212C>T						INF2_ENST00000330634.7_Silent_p.I886I	p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	18	2770	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	886			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2658C>T	CCDS9989.2																																																																																				0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		36	196	0	0	0	1	0	36	196					T	105179212	C	T	105179212	2	4	79	1	0	0	0	0	0	0	0	1	7764	874	31	1		1	INF2	14	105179212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1226	105179212	2170328	15045	25362											
INF2	64423	broad.mit.edu	37	chr14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggggcagcaaggcagcctCcatggatcccccaagagcca	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1004					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3010-3012)tCc>tTc		inverted formin, FH2 and WH2 domain containing							45	63	57					14																	105179914		2038	4191	6229	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179914C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3011C>T	14.37:g.105179914C>T	ENSP00000376410:p.Ser1004Phe					INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	20	3123	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1004					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3011C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823223	0.32237	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.41;-1.41	4.04	2.16	0.27623	.	7.488640	0.01565	U	0.020283	T	0.66056	0.2751	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43094	0.799;0.697	B;B	0.31946	0.138;0.094	T	0.60016	-0.7345	10	0.49607	T	0.09	.	6.2899	0.21054	0.0:0.6793:0.1498:0.1709	.	1004;1004	Q27J81-2;Q27J81	.;INF2_HUMAN	F	1004	ENSP00000376406:S1004F;ENSP00000376410:S1004F	ENSP00000252527:S472F	S	+	2	0	INF2	104250959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.929000	0.28844	0.269000	0.21961	-0.379000	0.06801	TCC		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		25	120	0	0	0	1	0	25	120					T	105179914	C	T	105179914	3	4	79	1	0	0	0	0	1	0	0	0	7764	855	30	2	3089	2	INF2	14	105179914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	105179914	2169626	15046	25363											
INF2	64423	broad.mit.edu	37	chr14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacggcccctggagaggCgttcttcctggtatgtggat	14	11	1	1	rs376685243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3223-3225)Cgt>Tgt		inverted formin, FH2 and WH2 domain containing							40	48	45					14																	105180722		1935	4114	6049	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180722C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3223C>T	14.37:g.105180722C>T	ENSP00000376410:p.Arg1075Cys					INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3335	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1075					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3223C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726340	0.48833	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82255	-1.58;-1.59	4.06	3.15	0.36227	.	2.226690	0.02138	N	0.056942	D	0.86264	0.5891	L	0.34521	1.04	0.47065	D	0.9993	D;D	0.89917	1.0;0.999	P;P	0.60886	0.88;0.761	T	0.73783	-0.3874	10	0.72032	D	0.01	.	9.5272	0.39171	0.2117:0.7883:0.0:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	C	1075	ENSP00000376406:R1075C;ENSP00000376410:R1075C	ENSP00000252527:R543C	R	+	1	0	INF2	104251767	1.000000	0.71417	0.077000	0.20336	0.958000	0.62258	2.098000	0.41757	0.979000	0.38497	0.491000	0.48974	CGT		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	54	0	0	0	1	0	11	54					T	105180722	C	T	105180722	3	4	79	1	0	0	0	0	1	0	0	0	7764	768	27	1	3305	1	INF2	14	105180722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	105180722	2168818	15047	25364											
INF2	64423	broad.mit.edu	37	chr14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttctccgaggatgCggtgaccgactcctcggggt	13	13	1	1	rs372714774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1197					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3589-3591)gCg>gTg		inverted formin, FH2 and WH2 domain containing		C	VAL/ALA,VAL/ALA	0,4032		0,0,2016	14	18	17		3590,3590	3.5	0	14		17	1,8261		0,1,4130	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	64,64	0,1,6146	TT,TC,CC		0.0121,0.0,0.0081	benign,benign	1197/1250,1197/1241	105181089	1,12293	2016	4131	6147	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105181089C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3590C>T	14.37:g.105181089C>T	ENSP00000376410:p.Ala1197Val					INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3702	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1197					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3590C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631763	0.29068	0.0	1.21E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;D	0.81499	-1.49;-1.5	4.44	3.55	0.40652	.	0.371075	0.19509	N	0.112548	T	0.63558	0.2521	N	0.17082	0.46	0.25501	N	0.987559	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.56426	-0.7981	10	0.52906	T	0.07	.	10.3378	0.43860	0.0:0.9063:0.0:0.0937	.	1197;1197	Q27J81-2;Q27J81	.;INF2_HUMAN	V	1197	ENSP00000376406:A1197V;ENSP00000376410:A1197V	ENSP00000252527:A665V	A	+	2	0	INF2	104252134	0.000000	0.05858	0.019000	0.16419	0.218000	0.24690	0.976000	0.29462	0.871000	0.35750	0.491000	0.48974	GCG		0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		23	103	0	0	0	1	0	23	103					T	105181089	C	T	105181089	3	4	79	1	0	0	0	0	1	0	0	0	7764	768	27	1	3672	1	INF2	14	105181089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	105181089	2168451	15048	25365											
ADSSL1	122622	broad.mit.edu	37	chr14	105208312	105208312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataccacacgtgtgggcatCggggccttccccaccgagca	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000330877.2	+	9	1006	c.921C>T	c.(919-921)atC>atT	p.I307I	ADSSL1_ENST00000332972.5_Silent_p.I350I	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GTGTGGGCATCGGGGCCTTCC	0.682																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1048-1050)atC>atT		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						144	119	127					14																	105208312		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208312C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.921C>T	14.37:g.105208312C>T						ADSSL1_ENST00000330877.2_Silent_p.I307I	p.I350I	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	9	1209	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	307						Silent	SNP	ENST00000330877.2	37	c.1050C>T	CCDS9990.1																																																																																				0.682	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			146	682	0	0	0	1	0	146	682					T	105208312	C	T	105208312	2	4	79	1	0	0	0	0	0	0	0	1	348	874	31	1		1	ADSSL1	14	105208312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27223	105208312	2141228	15049	25366											
SIVA1	10572	broad.mit.edu	37	chr14	105222077	105222077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaagcctggccctacaGgggccccgagggctgcacgt	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105222077G>T	ENST00000329967.6	+	2	331	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	77					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGGCCCTACAGGGGCCCCGAG	0.667																																						ENST00000329967.6																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(229-231)Ggg>Tgg		SIVA1, apoptosis-inducing factor							42	44	43					14																	105222077		2203	4300	6503	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222077G>T	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.229G>T	14.37:g.105222077G>T	ENSP00000329213:p.Gly77Trp					SIVA1_ENST00000347067.5_Intron	p.G77W	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	331	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	77					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.229G>T	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981899|1.981899	0.34942|0.34942	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	5.1|5.1	4.21|4.21	0.49690|0.49690	.|.	0.646995|.	0.14521|.	N|.	0.314427|.	T|T	0.52451|0.52451	0.1735|0.1735	L|L	0.36672|0.36672	1.1|1.1	0.43745|0.43745	D|D	0.996247|0.996247	D;D;D|.	0.69078|.	0.975;0.992;0.997|.	D;D;D|.	0.64321|.	0.911;0.911;0.924|.	T|T	0.45804|0.45804	-0.9236|-0.9236	9|5	0.72032|.	D|.	0.01|.	-9.7975|-9.7975	9.738|9.738	0.40399|0.40399	0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0	.|.	77;77;77|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	W|H	77|94	.|.	ENSP00000329213:G77W|.	G|Q	+|+	1|3	0|2	SIVA1|SIVA1	104293122|104293122	0.015000|0.015000	0.18098|0.18098	0.014000|0.014000	0.15608|0.15608	0.043000|0.043000	0.13939|0.13939	2.116000|2.116000	0.41930|0.41930	1.139000|1.139000	0.42245|0.42245	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.667	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		10	354	1	0	0.000442599	1	0.000448314	10	354					T	105222077	G	T	105222077	3	4	79	1	0	0	0	0	1	0	0	0	14395	1000	35	3	235	3	SIVA1	14	105222077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13765	105222077	2127463	15050	25367											
AKT1	207	broad.mit.edu	37	chr14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcttcagcccctgagTtgtcactgggtgagcccgac	10	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000554581.1	-	4	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	128					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(382-384)aAc>aGc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						146	109	121					14																	105242041		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242041T>C	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.383A>G	14.37:g.105242041T>C	ENSP00000451828:p.Asn128Ser					AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S	p.N128S			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1863	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	128					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.383A>G	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	T	8.764	0.924363	0.18056	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000007	T	0.18635	0.0447	N	0.04508	-0.205	0.41335	D	0.987261	B	0.02656	0.0	B	0.04013	0.001	T	0.09684	-1.0663	10	0.06494	T	0.89	.	12.8618	0.57918	0.0:0.0:0.0:1.0	.	128	P31749	AKT1_HUMAN	S	128;128;128;128;128;66;128;66	ENSP00000451828:N128S;ENSP00000384293:N128S;ENSP00000270202:N128S;ENSP00000385326:N128S;ENSP00000450688:N128S;ENSP00000443897:N66S;ENSP00000451166:N128S;ENSP00000451290:N66S	ENSP00000270202:N128S	N	-	2	0	AKT1	104313086	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.828000	0.27435	1.626000	0.50381	0.368000	0.22195	AAC		0.637	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		15	405	0	0	0	1	0	15	405					C	105242041	T	C	105242041	3	2	79	1	0	0	0	0	1	0	0	0	478	1725	60	4	1099	4	AKT1	14	105242041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19964	105242041	2107499	15051	25368											
AKT1	207	broad.mit.edu	37	chr14	105258975	105258975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcacaatagccacgtcGctcatggtgcccgaggctcc	9	16	2	0	rs371534192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000554581.1	-	1	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	2					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(4-6)agC>agT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	G	,,	1,4405	2.1+/-5.4	0,1,2202	107	92	97		6,6,6	0.6	1	14		97	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	2/481,2/481,2/481	105258975	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105258975G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.6C>T	14.37:g.105258975G>A						AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S	p.S2S			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	1	1486	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	2					B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.6C>T	CCDS9994.1																																																																																				0.672	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		50	583	0	0	0	1	0	50	583					A	105258975	G	A	105258975	2	1	79	1	0	0	0	0	0	0	0	1	478	1078	38	1		1	AKT1	14	105258975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16934	105258975	2090565	15052	25369											
KIAA0284	283638	broad.mit.edu	37	chr14	105353352	105353352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctggcggccctggagGcccgactcctctctaattct	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353352G>A	ENST00000414716.3	+	12	3004	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	CEP170B_ENST00000418279.1_Missense_Mutation_p.A856T|CEP170B_ENST00000453495.1_Missense_Mutation_p.A927T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A856T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	926						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGCCCTGGAGGCCCGACTCCT	0.682																																						ENST00000453495.1																			0											c.(2779-2781)Gcc>Acc		centrosomal protein 170B							28	39	35					14																	105353352		1974	4134	6108	SO:0001583	missense	283638							g.chr14:105353352G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2776G>A	14.37:g.105353352G>A	ENSP00000404151:p.Ala926Thr					CEP170B_ENST00000418279.1_Missense_Mutation_p.A856T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A856T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A926T	p.A927T							12	3007	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2779G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964100	0.92791	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.59083	0.34;0.35;0.29;0.35	4.48	4.48	0.54585	.	0.133016	0.51477	D	0.000091	T	0.74966	0.3786	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.895;0.996;0.998	T	0.77148	-0.2694	10	0.48119	T	0.1	-30.4102	17.1432	0.86759	0.0:0.0:1.0:0.0	.	926;926;856	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	856;926;927;856	ENSP00000451249:A856T;ENSP00000404151:A926T;ENSP00000407238:A927T;ENSP00000415006:A856T	ENSP00000404151:A926T	A	+	1	0	KIAA0284	104424397	1.000000	0.71417	0.993000	0.49108	0.837000	0.47467	9.642000	0.98461	2.032000	0.59987	0.491000	0.48974	GCC		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		37	311	0	0	0	1	0	37	311					A	105353352	G	A	105353352	3	1	79	1	0	0	0	0	1	0	0	0	8196	1203	42	2	2818	2	KIAA0284	14	105353352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94377	105353352	1996188	15053	25370											
KIAA0284	283638	broad.mit.edu	37	chr14	105353570	105353570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggacccgggaggcacCgccctggtcagtgcccgtga	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353570C>T	ENST00000414716.3	+	12	3222	c.2994C>T	c.(2992-2994)acC>acT	p.T998T	CEP170B_ENST00000418279.1_Silent_p.T928T|CEP170B_ENST00000453495.1_Silent_p.T999T|CEP170B_ENST00000556508.1_Silent_p.T928T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	998						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGGGAGGCACCGCCCTGGTCA	0.682																																						ENST00000453495.1																			0											c.(2995-2997)acC>acT		centrosomal protein 170B							15	20	18					14																	105353570		2098	4214	6312	SO:0001819	synonymous_variant	283638							g.chr14:105353570C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2994C>T	14.37:g.105353570C>T						CEP170B_ENST00000418279.1_Silent_p.T928T|CEP170B_ENST00000556508.1_Silent_p.T928T|CEP170B_ENST00000414716.3_Silent_p.T998T	p.T999T							12	3225	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.2997C>T	CCDS45175.1																																																																																				0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		35	161	0	0	0	1	0	35	161					T	105353570	C	T	105353570	2	4	79	1	0	0	0	0	0	0	0	1	8196	639	23	1		1	KIAA0284	14	105353570	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	105353570	1995970	15054	25371											
KIAA0284	283638	broad.mit.edu	37	chr14	105354058	105354058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccagctgctgagcaggCcaagaagctgtcacgcctgg	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105354058C>T	ENST00000414716.3	+	12	3710	c.3482C>T	c.(3481-3483)gCc>gTc	p.A1161V	CEP170B_ENST00000418279.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000453495.1_Missense_Mutation_p.A1162V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1091V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1161						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTGAGCAGGCCAAGAAGCTG	0.716																																						ENST00000453495.1																			0											c.(3484-3486)gCc>gTc		centrosomal protein 170B							6	10	9					14																	105354058		1949	4094	6043	SO:0001583	missense	283638							g.chr14:105354058C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3482C>T	14.37:g.105354058C>T	ENSP00000404151:p.Ala1161Val					CEP170B_ENST00000418279.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000414716.3_Missense_Mutation_p.A1161V	p.A1162V							12	3713	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3485C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.884865	0.33255	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.44881	0.91;0.92;0.91;0.92	4.03	1.96	0.26148	.	0.966170	0.08452	U	0.943742	T	0.52996	0.1769	L	0.54323	1.7	0.24738	N	0.993052	P;D;P	0.63880	0.514;0.993;0.639	B;P;B	0.57101	0.119;0.813;0.134	T	0.42849	-0.9427	10	0.62326	D	0.03	-24.1166	10.3639	0.44012	0.0:0.7644:0.1481:0.0875	.	1161;1161;1091	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1091;1161;1162;1091	ENSP00000451249:A1091V;ENSP00000404151:A1161V;ENSP00000407238:A1162V;ENSP00000415006:A1091V	ENSP00000404151:A1161V	A	+	2	0	KIAA0284	104425103	0.847000	0.29606	1.000000	0.80357	0.107000	0.19398	2.343000	0.44001	0.687000	0.31509	-0.371000	0.07208	GCC		0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		13	47	0	0	0	1	0	13	47					T	105354058	C	T	105354058	3	4	79	1	0	0	0	0	1	0	0	0	8196	739	26	2	3524	2	KIAA0284	14	105354058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488	105354058	1995482	15055	25372											
AHNAK2	113146	broad.mit.edu	37	chr14	105407193	105407193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacacaaactttggtttataGaatttaggaaaagatacctg	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000333244.5	-	7	14714	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4865						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGTTTATAGAATTTAGGAA	0.488																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14593-14595)ttC>ttT		AHNAK nucleoprotein 2							31	33	32					14																	105407193		1889	4115	6004	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105407193G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14595C>T	14.37:g.105407193G>A						AHNAK2_ENST00000557457.1_Intron	p.F4865F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14714	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4865					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.14595C>T	CCDS45177.1																																																																																				0.488	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	113	0	0	0	1	0	19	113					A	105407193	G	A	105407193	2	1	79	1	0	0	0	0	0	0	0	1	415	933	33	2		2	AHNAK2	14	105407193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53135	105407193	1942347	15056	25373											
AHNAK2	113146	broad.mit.edu	37	chr14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggcctccatctttggcGcagacacatccaccgagacc	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000333244.5	-	7	13588	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4490						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTTGGCGCAGACACATC	0.572																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13468-13470)gCg>gTg		AHNAK nucleoprotein 2							165	172	170					14																	105408319		2040	4187	6227	SO:0001583	missense	113146					nucleus		g.chr14:105408319G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13469C>T	14.37:g.105408319G>A	ENSP00000353114:p.Ala4490Val					AHNAK2_ENST00000557457.1_Intron	p.A4490V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13588	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4490					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13469C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	4.162	0.028622	0.08054	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	1.02	0.19986	.	0.505334	0.13604	N	0.375608	T	0.00440	0.0014	N	0.04275	-0.24	0.09310	N	1	P	0.40931	0.733	B	0.31390	0.129	T	0.49826	-0.8898	10	0.35671	T	0.21	-2.8578	3.0753	0.06245	0.3547:0.0:0.381:0.2643	.	4490	Q8IVF2	AHNK2_HUMAN	V	4490	ENSP00000353114:A4490V	ENSP00000353114:A4490V	A	-	2	0	AHNAK2	104479364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.141000	0.11374	-1.028000	0.02416	GCG		0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		198	846	0	0	0	1	0	198	846					A	105408319	G	A	105408319	3	1	79	1	0	0	0	0	1	0	0	0	415	1087	38	1	3922	1	AHNAK2	14	105408319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1126	105408319	1941221	15057	25374											
AHNAK2	113146	broad.mit.edu	37	chr14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggacttttaGgtccagcttggggcccttga	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000333244.5	-	7	10377	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3420						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTTTTAGGTCCAGCTTG	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10258-10260)Cta>Ata		AHNAK nucleoprotein 2							157	171	166					14																	105411530		1892	4131	6023	SO:0001583	missense	113146					nucleus		g.chr14:105411530G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10258C>A	14.37:g.105411530G>T	ENSP00000353114:p.Leu3420Ile					AHNAK2_ENST00000557457.1_Intron	p.L3420I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10377	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3420					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10258C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	3.767	-0.048412	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.31	-5.55	0.02536	.	.	.	.	.	T	0.01695	0.0054	L	0.28014	0.82	0.09310	N	1	B	0.33940	0.433	B	0.26310	0.068	T	0.34153	-0.9840	9	0.19147	T	0.46	.	15.6144	0.76753	0.0:0.7229:0.1753:0.1018	.	3420	Q8IVF2	AHNK2_HUMAN	I	3420	ENSP00000353114:L3420I	ENSP00000353114:L3420I	L	-	1	2	AHNAK2	104482575	.	.	0.040000	0.18447	0.017000	0.09413	.	.	-1.090000	0.03069	-0.479000	0.04858	CTA		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		301	1309	1	0	9.30315e-85	1	1.1921e-84	301	1309					T	105411530	G	T	105411530	3	4	79	1	0	0	0	0	1	0	0	0	415	991	35	3	7133	3	AHNAK2	14	105411530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3211	105411530	1938010	15058	25375											
AHNAK2	113146	broad.mit.edu	37	chr14	105412761	105412761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggaggctcacttcggcCtccaccttcggcgcagacac	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000333244.5	-	7	9146	c.9027G>A	c.(9025-9027)gaG>gaA	p.E3009E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3009						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCGGCCTCCACCTTCG	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9025-9027)gaG>gaA		AHNAK nucleoprotein 2							207	217	214					14																	105412761		2015	4154	6169	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412761C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9027G>A	14.37:g.105412761C>T						AHNAK2_ENST00000557457.1_Intron	p.E3009E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9146	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3009					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9027G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		56	1578	0	0	0	1	0	56	1578					T	105412761	C	T	105412761	2	4	79	1	0	0	0	0	0	0	0	1	415	680	24	2		2	AHNAK2	14	105412761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	105412761	1936779	15059	25376											
AHNAK2	113146	broad.mit.edu	37	chr14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcaccctccagccgtgCaccatccagctttgctctcg	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000333244.5	-	7	8991	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2958						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCCGTGCACCATCCAGC	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8872-8874)Gca>Aca		AHNAK nucleoprotein 2							190	204	199					14																	105412916		2032	4185	6217	SO:0001583	missense	113146					nucleus		g.chr14:105412916C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8872G>A	14.37:g.105412916C>T	ENSP00000353114:p.Ala2958Thr					AHNAK2_ENST00000557457.1_Intron	p.A2958T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2958					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8872G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.167	0.586811	0.13749	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	1.88	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.28530	T	0.3	.	5.3304	0.15930	0.0:0.4614:0.0:0.5386	.	2958	Q8IVF2	AHNK2_HUMAN	T	2958	ENSP00000353114:A2958T	ENSP00000353114:A2958T	A	-	1	0	AHNAK2	104483961	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.434000	0.06939	-0.642000	0.05480	-0.683000	0.03753	GCA		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		366	1415	0	0	0	1	0	366	1415					T	105412916	C	T	105412916	3	4	79	1	0	0	0	0	1	0	0	0	415	710	25	2	8519	2	AHNAK2	14	105412916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	105412916	1936624	15060	25377											
AHNAK2	113146	broad.mit.edu	37	chr14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgatggacttgccaagggcaGacaccccaaacgacagcatc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000333244.5	-	7	7111	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2331						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAAGGGCAGACACCCCAAA	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6991-6993)tCt>tAt		AHNAK nucleoprotein 2							191	213	206					14																	105414796		2056	4200	6256	SO:0001583	missense	113146					nucleus		g.chr14:105414796G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6992C>A	14.37:g.105414796G>T	ENSP00000353114:p.Ser2331Tyr					AHNAK2_ENST00000557457.1_Intron	p.S2331Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7111	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2331					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6992C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.73	3.203847	0.58234	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.64	3.64	0.41730	.	.	.	.	.	T	0.07098	0.0180	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	9	0.66056	D	0.02	.	10.8683	0.46869	0.0:0.0:1.0:0.0	.	2331	Q8IVF2	AHNK2_HUMAN	Y	2331	ENSP00000353114:S2331Y	ENSP00000353114:S2331Y	S	-	2	0	AHNAK2	104485841	0.860000	0.29831	0.006000	0.13384	0.006000	0.05464	4.252000	0.58785	1.559000	0.49555	0.306000	0.20318	TCT		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		225	1383	1	0	4.61621e-74	1	5.87989e-74	225	1383					T	105414796	G	T	105414796	3	4	79	1	0	0	0	0	1	0	0	0	415	942	33	3	10399	3	AHNAK2	14	105414796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1880	105414796	1934744	15061	25378											
AHNAK2	113146	broad.mit.edu	37	chr14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagggagcggaatgcagaGgtccgtggtcttgaggtccc	17	8	1	3	rs374130169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000333244.5	-	7	5730	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1871						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAATGCAGAGGTCCGTGGTC	0.662																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5611-5613)Ctc>Atc		AHNAK nucleoprotein 2		G	ILE/LEU	0,3884		0,0,1942	108	126	120		5611	-2	0	14		120	3,8199		0,3,4098	no	missense	AHNAK2	NM_138420.2	5	0,3,6040	TT,TG,GG		0.0366,0.0,0.0248	benign	1871/5796	105416177	3,12083	1942	4101	6043	SO:0001583	missense	113146					nucleus		g.chr14:105416177G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5611C>A	14.37:g.105416177G>T	ENSP00000353114:p.Leu1871Ile					AHNAK2_ENST00000557457.1_Intron	p.L1871I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5730	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1871					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5611C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.472	0.272207	0.10349	0.0	3.66E-4	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.92	-2.04	0.07343	.	.	.	.	.	T	0.01189	0.0039	M	0.64997	1.995	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.32851	-0.9891	9	0.32370	T	0.25	-7.9399	13.4204	0.60994	0.0:0.4768:0.4255:0.0977	.	1871	Q8IVF2	AHNK2_HUMAN	I	1871	ENSP00000353114:L1871I	ENSP00000353114:L1871I	L	-	1	0	AHNAK2	104487222	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.726000	0.04895	-0.255000	0.11280	CTC		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		251	1115	1	0	5.16297e-93	1	6.63302e-93	251	1115					T	105416177	G	T	105416177	3	4	79	1	0	0	0	0	1	0	0	0	415	1000	35	3	11780	3	AHNAK2	14	105416177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	105416177	1933363	15062	25379											
AHNAK2	113146	broad.mit.edu	37	chr14	105418648	105418648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtagaagcaggctgaatgCtgaggtcagtggtcttcagg	15	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105418648C>A	ENST00000333244.5	-	7	3259	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1047						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGCTGAATGCTGAGGTCAGT	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3139-3141)aGc>aTc		AHNAK nucleoprotein 2							109	120	117					14																	105418648		1988	4147	6135	SO:0001583	missense	113146					nucleus		g.chr14:105418648C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3140G>T	14.37:g.105418648C>A	ENSP00000353114:p.Ser1047Ile					AHNAK2_ENST00000557457.1_Intron	p.S1047I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3259	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1047					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3140G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.209663	0.39003	.	.	ENSG00000185567	ENST00000333244	T	0.00922	5.54	3.68	-2.37	0.06643	.	.	.	.	.	T	0.02888	0.0086	M	0.84433	2.695	0.09310	N	1	D	0.57899	0.981	P	0.54590	0.756	T	0.14282	-1.0478	9	0.42905	T	0.14	.	5.5041	0.16844	0.0:0.2944:0.4327:0.273	.	1047	Q8IVF2	AHNK2_HUMAN	I	1047	ENSP00000353114:S1047I	ENSP00000353114:S1047I	S	-	2	0	AHNAK2	104489693	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.375000	0.20518	-0.725000	0.04901	-0.479000	0.04858	AGC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	927	1	0	3.11337e-16	1	3.41587e-16	36	927					A	105418648	C	A	105418648	3	1	79	1	0	0	0	0	1	0	0	0	415	797	28	3	14251	3	AHNAK2	14	105418648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2471	105418648	1930892	15063	25380											
AHNAK2	113146	broad.mit.edu	37	chr14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtcacttccgccttgGggcctttcaggtccagcttg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000333244.5	-	7	2467	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	783						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2347-2349)cCc>cAc		AHNAK nucleoprotein 2							112	125	121					14																	105419440		1857	4091	5948	SO:0001583	missense	113146					nucleus		g.chr14:105419440G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2348C>A	14.37:g.105419440G>T	ENSP00000353114:p.Pro783His					AHNAK2_ENST00000557457.1_Intron	p.P783H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2467	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	783					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2348C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106012	0.37145	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.12	2.21	0.28008	.	.	.	.	.	T	0.19087	0.0458	M	0.91510	3.215	0.09310	N	1	D	0.67145	0.996	D	0.77004	0.989	T	0.05194	-1.0900	9	0.44086	T	0.13	.	6.823	0.23866	0.2304:0.0:0.7696:0.0	.	783	Q8IVF2	AHNK2_HUMAN	H	783	ENSP00000353114:P783H	ENSP00000353114:P783H	P	-	2	0	AHNAK2	104490485	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	0.699000	0.25586	0.297000	0.22615	0.485000	0.47835	CCC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		256	1043	1	0	1.68201e-53	1	2.09675e-53	256	1043					T	105419440	G	T	105419440	3	4	79	1	0	0	0	0	1	0	0	0	415	1232	43	3	15043	3	AHNAK2	14	105419440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	105419440	1930100	15064	25381											
AHNAK2	113146	broad.mit.edu	37	chr14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctctttctggctctttttCtgtggaaaatgcaaattttg	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	499						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCTTTTTCTGTGGAAAAT	0.507																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1495-1497)Gaa>Taa		AHNAK nucleoprotein 2							56	59	58					14																	105420293		1925	4125	6050	SO:0001587	stop_gained	113146					nucleus		g.chr14:105420293C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1495G>T	14.37:g.105420293C>A	ENSP00000353114:p.Glu499*						p.E499*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1614	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	499					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1495G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	37	6.337537	0.97485	.	.	ENSG00000185567	ENST00000333244	.	.	.	5.03	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.3871	0.32508	0.2317:0.3946:0.3736:0.0	.	.	.	.	X	499	.	ENSP00000353114:E499X	E	-	1	0	AHNAK2	104491338	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.375000	0.20518	0.569000	0.29329	0.561000	0.74099	GAA		0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		80	325	1	0	1.24833e-42	1	1.5209e-42	80	325					A	105420293	C	A	105420293	4	1	79	1	0	0	0	0	0	1	0	0	415	922	32	3	15896	3	AHNAK2	14	105420293	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	105420293	1929247	15065	25382											
CDCA4	55038	broad.mit.edu	37	chr14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgtccaggtcgtagtAggggctgtccacgtctgaga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	188						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587																																						ENST00000336219.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(562-564)Tac>Cac		cell division cycle associated 4							69	64	66					14																	105477705		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105477705A>G	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.562T>C	14.37:g.105477705A>G	ENSP00000337226:p.Tyr188His					CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	717	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	188					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.562T>C	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739827	0.49045	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.45276	0.9;0.9	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.70275	2.135	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.63743	-0.6568	10	0.45353	T	0.12	-0.0155	13.5504	0.61728	1.0:0.0:0.0:0.0	.	188	Q9BXL8	CDCA4_HUMAN	H	188	ENSP00000337226:Y188H;ENSP00000376369:Y188H	ENSP00000337226:Y188H	Y	-	1	0	CDCA4	104548750	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	5.796000	0.69080	1.856000	0.53863	0.529000	0.55759	TAC		0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		59	267	0	0	0	1	0	59	267					G	105477705	A	G	105477705	3	3	79	1	0	0	0	0	1	0	0	0	3097	420	15	4	167	4	CDCA4	14	105477705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57412	105477705	1871835	15066	25383											
GPR132	29933	broad.mit.edu	37	chr14	105517442	105517442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgactgcagctcctcGgtgtccctgctgtgggtgag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000329797.3	-	4	1943	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.T344T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	344					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGCTCCTCGGTGTCCCTGC	0.607																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1030-1032)acC>acT		G protein-coupled receptor 132							173	142	152					14																	105517442		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517442G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.1032C>T	14.37:g.105517442G>A						GPR132_ENST00000539291.2_Silent_p.T344T|GPR132_ENST00000392585.2_Silent_p.T335T	p.T344T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1943	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	344					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.1032C>T	CCDS9997.1																																																																																				0.607	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		16	313	0	0	0	1	0	16	313					A	105517442	G	A	105517442	2	1	79	1	0	0	0	0	0	0	0	1	6671	1103	39	1		1	GPR132	14	105517442	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39737	105517442	1832098	15067	25384											
JAG2	3714	broad.mit.edu	37	chr14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggaaccagttgacgcCgtcaacacagatgccaccat	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	807	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		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)		CAGTTGACGCCGTCAACACAG	0.667																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2419-2421)Ggc>Agc		jagged 2							32	27	28					14																	105613723		2176	4287	6463	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105613723C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2419G>A	14.37:g.105613723C>T	ENSP00000328169:p.Gly807Ser					JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	p.G807S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_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)	20	2822	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	807			EGF-like 15; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.2419G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.906351	0.92107	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.96459	-4.02;-4.02	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.97566	1.0101	10	0.62326	D	0.03	.	15.6731	0.77295	0.0:1.0:0.0:0.0	.	769;807	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	807;769	ENSP00000328169:G807S;ENSP00000328566:G769S	ENSP00000328169:G807S	G	-	1	0	JAG2	104684768	0.987000	0.35691	0.868000	0.34077	0.640000	0.38277	5.757000	0.68766	2.172000	0.68678	0.446000	0.29264	GGC		0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			10	67	0	0	0	1	0	10	67					T	105613723	C	T	105613723	3	4	79	1	0	0	0	0	1	0	0	0	7965	652	23	1	1325	1	JAG2	14	105613723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96281	105613723	1735817	15068	25385											
JAG2	3714	broad.mit.edu	37	chr14	105614748	105614748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagcggccgcggctgtgGcagggatcgggaaggcagtc	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	683	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		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)		CGCGGCTGTGGCAGGGATCGG	0.692																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2047-2049)tgC>tgT		jagged 2							22	22	22					14																	105614748		2186	4289	6475	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105614748G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2049C>T	14.37:g.105614748G>A						JAG2_ENST00000347004.2_Silent_p.C645C	p.C683C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_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)	16	2452	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	683			EGF-like 12; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.2049C>T	CCDS9998.1																																																																																				0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			26	192	0	0	0	1	0	26	192					A	105614748	G	A	105614748	2	1	79	1	0	0	0	0	0	0	0	1	7965	1195	42	2		2	JAG2	14	105614748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1025	105614748	1734792	15069	25386											
JAG2	3714	broad.mit.edu	37	chr14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtgccaccggccgcaCacgggttcgaagcacactca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	394	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		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)		ACCGGCCGCACACGGGTTCGA	0.657																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1180-1182)tGt>tAt		jagged 2							36	34	35					14																	105617706		2203	4300	6503	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105617706C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1181G>A	14.37:g.105617706C>T	ENSP00000328169:p.Cys394Tyr					JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	p.C394Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_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)	9	1584	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	394			EGF-like 5; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1181G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235646	0.58886	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.99992	-12.4;-12.4	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99989	1.3819	10	0.87932	D	0	.	13.0718	0.59066	0.0:1.0:0.0:0.0	.	394;394	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	394	ENSP00000328169:C394Y;ENSP00000328566:C394Y	ENSP00000328169:C394Y	C	-	2	0	JAG2	104688751	1.000000	0.71417	0.446000	0.26920	0.386000	0.30323	5.834000	0.69361	1.610000	0.50200	0.297000	0.19635	TGT		0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			36	153	0	0	0	1	0	36	153					T	105617706	C	T	105617706	3	4	79	1	0	0	0	0	1	0	0	0	7965	478	17	2	2607	2	JAG2	14	105617706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2958	105617706	1731834	15070	25387											
JAG2	3714	broad.mit.edu	37	chr14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcacggtgcatccccCgtggagcaaattacaccctt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	254	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		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)		GTGCATCCCCCGTGGAGCAAA	0.647																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(760-762)Ggg>Agg		jagged 2							100	100	100					14																	105621927		2203	4300	6503	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105621927C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.760G>A	14.37:g.105621927C>T	ENSP00000328169:p.Gly254Arg					JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	p.G254R	NM_002226.4	NP_002217.3	Q9Y219	JAG2_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)	5	1163	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	254			EGF-like 1.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.760G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694988	0.68386	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.48836	0.8;0.8	3.76	3.76	0.43208	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.76300	0.3968	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84545	0.0641	10	0.87932	D	0	.	14.9103	0.70752	0.0:1.0:0.0:0.0	.	254;254	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	R	254	ENSP00000328169:G254R;ENSP00000328566:G254R	ENSP00000328169:G254R	G	-	1	0	JAG2	104692972	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.059000	0.76684	1.796000	0.52611	0.563000	0.77884	GGG		0.647	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			119	545	0	0	0	1	0	119	545					T	105621927	C	T	105621927	3	4	79	1	0	0	0	0	1	0	0	0	7965	652	23	1	3044	1	JAG2	14	105621927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4221	105621927	1727613	15071	25388											
NUDT14	256281	broad.mit.edu	37	chr14	105643299	105643299	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccccagctggcctcaCctggccggaactgcttcacc	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							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)			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)		GCTGGCCTCACCTGGCCGGAA	0.612										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.e3+1		nudix (nucleoside diphosphate linked moiety X)-type motif 14							39	33	35					14																	105643299		2193	4289	6482	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643299C>T	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.190+1G>A	14.37:g.105643299C>T		HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA		NM_177533.4	NP_803877.2	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)	3	284	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)						Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37		CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947373	0.73672	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8587	0.52453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104714344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.518000	0.67068	2.506000	0.84524	0.655000	0.94253	.		0.612	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	Intron	15	83	0	0	0	1	0	15	83					T	105643299	C	T	105643299	5	4	79	1	0	0	0	0	0	0	1	0	10772	521	18	2	489	2	NUDT14	14	105643299	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21372	105643299	1706241	15072	25389											
BRF1	2972	broad.mit.edu	37	chr14	105677562	105677562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggtatgacacgggcccGctctccaccagcaccgcctg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000440513.3_Silent_p.S538S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	631					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1891-1893)agC>agT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							45	44	44					14																	105677562		2202	4299	6501	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677562G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1893C>T	14.37:g.105677562G>A						BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000551787.1_Intron	p.S631S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	16852	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	631					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1893C>T	CCDS10001.1																																																																																				0.667	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		85	326	0	0	0	1	0	85	326					A	105677562	G	A	105677562	2	1	79	1	0	0	0	0	0	0	0	1	1514	1078	38	1		1	BRF1	14	105677562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34263	105677562	1671978	15073	25390											
BRF1	2972	broad.mit.edu	37	chr14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattctggctgcaaccaggaGcgctggaaggcaacgagacg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	233					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(697-699)Ctc>Atc		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							242	216	225					14																	105695248		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105695248G>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.697C>A	14.37:g.105695248G>T	ENSP00000448323:p.Leu233Ile					BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I	p.L233I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	7	15656	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	233					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.697C>A	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848046|2.848046	0.51164|0.51164	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.999	.|D;D;D	.|0.79108	.|0.946;0.99;0.992	T|T	0.79095|0.79095	-0.1944|-0.1944	6|9	0.87932|0.72032	D|D	0|0.01	.|.	16.143|16.143	0.81539|0.81539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;206;233	.|F5H5Z7;Q92994-5;Q92994	.|.;.;TF3B_HUMAN	D|I	86|29;206;233;29;29;29;118;118;29;29;29	.|.	ENSP00000450258:A86D|ENSP00000329029:L118I	A|L	-|-	2|1	0|0	BRF1|BRF1	104766293|104766293	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.004000|0.004000	0.04260|0.04260	8.878000|8.878000	0.92393|0.92393	2.397000|2.397000	0.81536|0.81536	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		285	1058	1	0	7.76047e-84	1	9.93817e-84	285	1058					T	105695248	G	T	105695248	3	4	79	1	0	0	0	0	1	0	0	0	1514	971	34	3	1384	3	BRF1	14	105695248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17686	105695248	1654292	15074	25391											
BRF1	2972	broad.mit.edu	37	chr14	105739099	105739099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaggtagaggcaggcaGcaatcacgtgggccatcttc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105739099G>A	ENST00000546474.1	-	3	15357	c.398C>T	c.(397-399)gCt>gTt	p.A133V	BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000440513.3_Missense_Mutation_p.A18V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	133					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GAGGCAGGCAGCAATCACGTG	0.622																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(397-399)gCt>gTt		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							64	58	60					14																	105739099		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105739099G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.398C>T	14.37:g.105739099G>A	ENSP00000448323:p.Ala133Val					BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V	p.A133V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	3	15357	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	133					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.398C>T	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579328	0.86645	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513;ENST00000550692;ENST00000548421;ENST00000345053	.	.	.	5.03	5.03	0.67393	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.997;0.995;1.0;0.999	D;D;D;D	0.77557	0.963;0.97;0.99;0.99	D	0.89856	0.4013	9	0.87932	D	0	.	15.8531	0.78952	0.0:0.0:1.0:0.0	.	18;106;133;133	F5H5Z7;Q92994-5;Q96KX3;Q92994	.;.;.;TF3B_HUMAN	V	106;133;18;18;18;133;133	.	ENSP00000329029:A18V	A	-	2	0	BRF1	104810144	1.000000	0.71417	0.590000	0.28732	0.485000	0.33311	9.158000	0.94723	2.333000	0.79357	0.650000	0.86243	GCT		0.622	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		9	448	0	0	0	1	0	9	448					A	105739099	G	A	105739099	3	1	79	1	0	0	0	0	1	0	0	0	1514	971	34	2	1699	2	BRF1	14	105739099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43851	105739099	1610441	15075	25392											
MTA1	9112	broad.mit.edu	37	chr14	105905013	105905013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgctgtttgcagactaCgtctactttgagaactcctc	8	11	1	2	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000405646.1_Silent_p.Y11Y|MTA1_ENST00000406191.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	11	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612																																						ENST00000331320.7																			1	Substitution - coding silent(1)	p.Y11Y(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(31-33)taC>taT		metastasis associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	151	149	149		33,33	-2.5	1	14	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	11/431,11/716	105905013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105905013C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.33C>T	14.37:g.105905013C>T						MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	2	247	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	11			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.33C>T	CCDS32169.1																																																																																				0.612	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			177	764	0	0	0	1	0	177	764					T	105905013	C	T	105905013	2	4	79	1	0	0	0	0	0	0	0	1	9949	547	19	1		1	MTA1	14	105905013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165914	105905013	1444527	15076	25393											
CRIP2	1397	broad.mit.edu	37	chr14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgaaggcaaggtccaGccctaggctacagcggctct	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000329146.4	+	8	1334	c.621G>T	c.(619-621)caG>caT	p.Q207H	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	207					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGTCCAGCCCTAGGCTA	0.677																																						ENST00000329146.4																			0				lung(2)	2						c.(619-621)caG>caT		cysteine-rich protein 2							79	68	72					14																	105945984		2194	4290	6484	SO:0001583	missense	1397						zinc ion binding	g.chr14:105945984G>T		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.621G>T	14.37:g.105945984G>T	ENSP00000328521:p.Gln207His					CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H|CRIP2_ENST00000548989.1_3'UTR	p.Q207H	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	8	1334	+		Melanoma(154;0.226)	207					A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	37	c.621G>T	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724626|2.724626	0.48833|0.48833	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|T;T	.|0.73789	.|-0.78;-0.28	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|.	.|.	.|.	.|.	T|T	0.73528|0.73528	0.3598|0.3598	N|N	0.19112|0.19112	0.55|0.55	0.47621|0.47621	D|D	0.999477|0.999477	.|D;D;D	.|0.65815	.|0.989;0.995;0.989	.|P;P;P	.|0.62885	.|0.854;0.908;0.795	T|T	0.76165|0.76165	-0.3059|-0.3059	5|9	.|0.62326	.|D	.|0.03	-3.9129|-3.9129	11.5747|11.5747	0.50854|0.50854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;207;207	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	S|H	103;191|281;207	.|ENSP00000426119:Q281H;ENSP00000328521:Q207H	.|ENSP00000328521:Q207H	A|Q	+|+	1|3	0|2	CRIP2|CRIP2	105017029|105017029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.142000|0.142000	0.21351|0.21351	2.940000|2.940000	0.49003|0.49003	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	GCC|CAG		0.677	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		6	87	1	0	0.00307968	1	0.00310409	6	87					T	105945984	G	T	105945984	3	4	79	1	0	0	0	0	1	0	0	0	3884	962	34	3	651	3	CRIP2	14	105945984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40971	105945984	1403556	15077	25394											
TMEM121	80757	broad.mit.edu	37	chr14	105995269	105995269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtacctggtggagcagaAccagggcccgcgcaagatcg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	ENST00000392519.2	+	2	262	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	33						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GTGGAGCAGAACCAGGGCCCG	0.687																																						ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(97-99)aAc>aCc		transmembrane protein 121							92	78	83					14																	105995269		2200	4297	6497	SO:0001583	missense	80757					integral to membrane		g.chr14:105995269A>C		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.98A>C	14.37:g.105995269A>C	ENSP00000376304:p.Asn33Thr					TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	262	+		Melanoma(154;0.226)	33						Missense_Mutation	SNP	ENST00000392519.2	37	c.98A>C	CCDS10006.1	.	.	.	.	.	.	.	.	.	.	a	14.33	2.503675	0.44558	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	3.77	2.32	0.28847	.	0.068612	0.56097	U	0.000027	T	0.34948	0.0915	L	0.27053	0.805	0.53688	D	0.999971	B	0.34181	0.44	B	0.31614	0.133	T	0.33189	-0.9878	9	0.66056	D	0.02	.	8.4915	0.33104	0.8774:0.0:0.1226:0.0	.	33	Q9BTD3	TM121_HUMAN	T	33	.	ENSP00000376304:N33T	N	+	2	0	TMEM121	105066314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.530000	0.67141	1.355000	0.45865	0.397000	0.26171	AAC		0.687	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		15	50	0	0	0	1	0	15	50					C	105995269	A	C	105995269	3	2	79	1	0	0	0	0	1	0	0	0	16087	43	2	4	100	4	TMEM121	14	105995269	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49285	105995269	1354271	15078	25395											
OR4N4	283694	broad.mit.edu	37	chr15	22382753	22382753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaaaggtaatctcctAcagaggctgcatcactcagc	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	ENST00000328795.4	+	1	372	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAATCTCCTACAGAGGCTGC	0.502																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(280-282)tAc>tGc		olfactory receptor, family 4, subfamily N, member 4							46	47	47					15																	22382753		2188	4244	6432	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382753A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.281A>G	15.37:g.22382753A>G	ENSP00000332500:p.Tyr94Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.Y94C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	372	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	94					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.281A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.881	0.951543	0.18431	.	.	ENSG00000183706	ENST00000328795	T	0.00330	8.08	3.2	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.158240	0.29980	N	0.010703	T	0.00724	0.0024	M	0.89095	3.005	0.20196	N	0.999925	D	0.89917	1.0	D	0.70935	0.971	T	0.40627	-0.9553	10	0.87932	D	0	-7.8503	5.8534	0.18707	0.5674:0.0:0.0:0.4326	.	94	Q8N0Y3	OR4N4_HUMAN	C	94	ENSP00000332500:Y94C	ENSP00000332500:Y94C	Y	+	2	0	OR4N4	19884117	0.013000	0.17824	0.975000	0.42487	0.376000	0.30014	0.210000	0.17455	0.402000	0.25451	0.155000	0.16302	TAC		0.502	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			69	394	0	0	0	1	0	69	394					G	22382753	A	G	22382753	3	3	79	1	0	0	0	0	1	0	0	0	11120	391	14	4	283	4	OR4N4	15	22382753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		22382753	80148639	15079	25396											
OR4N4	283694	broad.mit.edu	37	chr15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagctgacaagatggtttCtctctttcacacagtgatct	7	11	4	3	rs376814938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S272Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.S272Y(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(814-816)tCt>tAt		olfactory receptor, family 4, subfamily N, member 4		C	TYR/SER	1,4377		0,1,2188	197	176	183		815	3.2	1	15		183	0,8522		0,0,4261	no	missense	OR4N4	NM_001005241.2	144	0,1,6449	AA,AC,CC		0.0,0.0228,0.0078	probably-damaging	272/317	22383287	1,12899	2189	4261	6450	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383287C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.815C>A	15.37:g.22383287C>A	ENSP00000332500:p.Ser272Tyr					RP11-69H14.6_ENST00000558896.1_RNA	p.S272Y	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	906	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	272					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.815C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.752023	0.15778	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00274	8.35	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.153130	0.30979	N	0.008497	T	0.01029	0.0034	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11348	-1.0591	10	0.87932	D	0	-9.0549	12.2303	0.54484	0.0:1.0:0.0:0.0	.	272	Q8N0Y3	OR4N4_HUMAN	Y	272	ENSP00000332500:S272Y	ENSP00000332500:S272Y	S	+	2	0	OR4N4	19884651	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	0.779000	0.26746	1.784000	0.52394	0.404000	0.27445	TCT		0.418	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			118	527	1	0	4.08981e-53	1	5.09396e-53	118	527					A	22383287	C	A	22383287	3	1	79	1	0	0	0	0	1	0	0	0	11120	913	32	3	817	3	OR4N4	15	22383287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	22383287	80148105	15080	25397											
CYFIP1	81614	broad.mit.edu	37	chr15	23002959	23002959	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggataagtacctgaaGtcaggcgacggggagggcac	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23002959G>A	ENST00000337451.3	-	0	3233				CYFIP1_ENST00000435939.2_Silent_p.K796K|CYFIP1_ENST00000313077.7_Silent_p.K1227K|CYFIP1_ENST00000560848.1_Silent_p.K1227K	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2							early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AGTACCTGAAGTCAGGCGACG	0.567																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3679-3681)aaG>aaA		cytoplasmic FMR1 interacting protein 1							75	70	72					15																	23002959		2203	4300	6503	SO:0001628	intergenic_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:23002959G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101		15.37:g.23002959G>A						CYFIP1_ENST00000560848.1_Silent_p.K1227K|CYFIP1_ENST00000435939.2_Silent_p.K796K	p.K1227K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	31	3806	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1227					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.3681G>A	CCDS10010.1																																																																																				0.567	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		85	292	0	0	0	1	0	85	292					A	23002959	G	A	23002959	1	1	79	0	1	0	0	0	0	0	0	0	4148	1020	36	2		2	CYFIP1	15	23002959	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	619672	23002959	79528433	15081	25398											
MKRN3	7681	broad.mit.edu	37	chr15	23810940	23810940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagccatggaagagcCtgcagctccctcagaagccc	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	ENST00000314520.3	+	1	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	4					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGGAAGAGCCTGCAGCTCCC	0.647																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(10-12)cCt>cAt		makorin ring finger protein 3							14	20	18					15																	23810940		2194	4294	6488	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23810940C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.11C>A	15.37:g.23810940C>A	ENSP00000313881:p.Pro4His					MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	487	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	4						Missense_Mutation	SNP	ENST00000314520.3	37	c.11C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	3.118	-0.181086	0.06380	.	.	ENSG00000179455	ENST00000314520	T	0.30981	1.51	3.36	2.45	0.29901	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.22639	N	0.998905	D;D	0.71674	0.998;0.983	P;B	0.59012	0.85;0.431	T	0.07121	-1.0789	9	0.87932	D	0	.	6.6317	0.22861	0.0:0.8687:0.0:0.1313	.	4;4	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	4	ENSP00000313881:P4H	ENSP00000313881:P4H	P	+	2	0	MKRN3	21362033	0.988000	0.35896	0.969000	0.41365	0.048000	0.14542	1.612000	0.36889	0.987000	0.38709	-0.253000	0.11424	CCT		0.647	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		12	67	1	0	6.40141e-05	1	6.5221e-05	12	67					A	23810940	C	A	23810940	3	1	79	1	0	0	0	0	1	0	0	0	9649	681	24	3	13	3	MKRN3	15	23810940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	807981	23810940	78720452	15082	25399											
MKRN3	7681	broad.mit.edu	37	chr15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcaaggagggggagaaCtgtcgctattcgcacgacct	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000314520.3	+	1	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	114					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGGAGAACTGTCGCTATT	0.607																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(340-342)aaC>aaA		makorin ring finger protein 3							62	63	62					15																	23811271		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811271C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.342C>A	15.37:g.23811271C>A	ENSP00000313881:p.Asn114Lys					MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.N114K	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	818	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	114						Missense_Mutation	SNP	ENST00000314520.3	37	c.342C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896754	0.52121	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.94	-0.124	0.13523	Zinc finger, CCCH-type (2);	0.251054	0.38005	N	0.001852	T	0.19046	0.0457	N	0.21282	0.65	0.50313	D	0.999868	B	0.33266	0.404	B	0.24848	0.056	T	0.05273	-1.0895	10	0.22706	T	0.39	.	4.5958	0.12329	0.0:0.4436:0.3527:0.2036	.	114	Q13064	MKRN3_HUMAN	K	114	ENSP00000313881:N114K	ENSP00000313881:N114K	N	+	3	2	MKRN3	21362364	0.974000	0.33945	0.990000	0.47175	0.972000	0.66771	0.082000	0.14847	-0.002000	0.14469	0.563000	0.77884	AAC		0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		78	362	1	0	1.91593e-42	1	2.3328e-42	78	362					A	23811271	C	A	23811271	3	1	79	1	0	0	0	0	1	0	0	0	9649	564	20	3	344	3	MKRN3	15	23811271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	331	23811271	78720121	15083	25400											
MKRN3	7681	broad.mit.edu	37	chr15	23812378	23812378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtttctttcactgagagaTgagttacccttctctgagga	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000314520.3	+	1	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	483					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACTGAGAGATGAGTTACCCT	0.458																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1447-1449)gaT>gaC		makorin ring finger protein 3							158	149	152					15																	23812378		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812378T>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1449T>C	15.37:g.23812378T>C						MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron	p.D483D	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1925	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	483						Silent	SNP	ENST00000314520.3	37	c.1449T>C	CCDS10013.1																																																																																				0.458	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		130	611	0	0	0	1	0	130	611					C	23812378	T	C	23812378	2	2	79	1	0	0	0	0	0	0	0	1	9649	1461	51	4		4	MKRN3	15	23812378	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1107	23812378	78719014	15084	25401											
MAGEL2	54551	broad.mit.edu	37	chr15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactcacactctgcgaGcgcttcaaggtaatggaatg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	500					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1849-1851)Ctc>Atc		MAGE-like 2							59	63	61					15																	23889232		2040	4195	6235	SO:0001583	missense	54551							g.chr15:23889232G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1849C>A	15.37:g.23889232G>T	ENSP00000433433:p.Leu617Ile						p.L617I	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1943	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1849C>A																																																																																					0.552	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		59	216	1	0	4.54978e-40	1	5.51122e-40	59	216					T	23889232	G	T	23889232	3	4	79	1	0	0	0	0	1	0	0	0	9230	971	34	3	95	3	MAGEL2	15	23889232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76854	23889232	78642160	15085	25402											
MAGEL2	54551	broad.mit.edu	37	chr15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcctgcagagcatatgGcagtgactttggggtctctg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	98					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(643-645)Cca>Tca		MAGE-like 2							64	68	67					15																	23890438		1988	4181	6169	SO:0001583	missense	54551							g.chr15:23890438G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.643C>T	15.37:g.23890438G>A	ENSP00000433433:p.Pro215Ser						p.P215S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	737	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.643C>T																																																																																					0.562	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		72	303	0	0	0	1	0	72	303					A	23890438	G	A	23890438	3	1	79	1	0	0	0	0	1	0	0	0	9230	1203	42	2	1301	2	MAGEL2	15	23890438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1206	23890438	78640954	15086	25403											
NDN	4692	broad.mit.edu	37	chr15	23931896	23931896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgtgcaggctggttaGcctcaggtgcagcccgaaca	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23931896G>A	ENST00000331837.4	-	1	554	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	157	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGCTGGTTAGCCTCAGGTGC	0.627									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(469-471)Cta>Tta		necdin, melanoma antigen (MAGE) family member							35	36	36					15																	23931896		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931896G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.469C>T	15.37:g.23931896G>A							p.L157L	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	554	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	157			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.469C>T	CCDS10014.1																																																																																				0.627	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		7	239	0	0	0	1	0	7	239					A	23931896	G	A	23931896	2	1	79	1	0	0	0	0	0	0	0	1	10289	962	34	2		2	NDN	15	23931896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41458	23931896	78599496	15087	25404											
C15orf2	23742	broad.mit.edu	37	chr15	24922482	24922482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttataattcagtcgtaggaGcagcgcctctcacttctgac	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922482G>T	ENST00000329468.2	+	1	1942	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	490	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCGTAGGAGCAGCGCCTCT	0.517																																						ENST00000329468.2																			0											c.(1468-1470)Gca>Tca		nuclear pore associated protein 1							193	203	199					15																	24922482		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922482G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1468G>T	15.37:g.24922482G>T	ENSP00000333735:p.Ala490Ser						p.A490S	NM_018958.2	NP_061831.2					1	1942	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1468G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.005	0.981128	0.18812	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	2.07	0.943	0.19531	.	1.499650	0.04447	N	0.371857	T	0.05273	0.0140	N	0.22421	0.69	0.09310	N	1	P	0.47962	0.903	P	0.46885	0.53	T	0.27020	-1.0086	10	0.06365	T	0.9	.	3.0048	0.06025	0.4784:0.0:0.5216:0.0	.	490	Q9NZP6	CO002_HUMAN	S	490	ENSP00000333735:A490S	ENSP00000333735:A490S	A	+	1	0	C15orf2	22473575	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.214000	0.17541	0.285000	0.22329	0.313000	0.20887	GCA		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		231	1054	1	0	9.35327e-79	1	1.19482e-78	231	1054					T	24922482	G	T	24922482	3	4	79	1	0	0	0	0	1	0	0	0	1789	971	34	3	1470	3	C15orf2	15	24922482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	990586	24922482	77608910	15088	25405											
C15orf2	23742	broad.mit.edu	37	chr15	24922621	24922621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgactcttcttccagtccCttccaccgggacctcagtta	6	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922621C>A	ENST00000329468.2	+	1	2081	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	536	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTTCCAGTCCCTTCCACCGGG	0.522																																						ENST00000329468.2																			0											c.(1606-1608)cCt>cAt		nuclear pore associated protein 1							185	185	185					15																	24922621		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922621C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1607C>A	15.37:g.24922621C>A	ENSP00000333735:p.Pro536His						p.P536H	NM_018958.2	NP_061831.2					1	2081	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1607C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587379	0.46110	.	.	ENSG00000185823	ENST00000329468	T	0.21191	2.02	1.97	-0.152	0.13407	.	0.496743	0.15175	N	0.276441	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	P	0.60541	0.876	T	0.09443	-1.0674	10	0.72032	D	0.01	.	3.2627	0.06854	0.0:0.5446:0.2762:0.1792	.	536	Q9NZP6	CO002_HUMAN	H	536	ENSP00000333735:P536H	ENSP00000333735:P536H	P	+	2	0	C15orf2	22473714	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.393000	0.07305	-0.032000	0.13758	0.205000	0.17691	CCT		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		219	975	1	0	2.33905e-58	1	2.9338e-58	219	975					A	24922621	C	A	24922621	3	1	79	1	0	0	0	0	1	0	0	0	1789	681	24	3	1609	3	C15orf2	15	24922621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139	24922621	77608771	15089	25406											
C15orf2	23742	broad.mit.edu	37	chr15	24922657	24922657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttatcaccagcaagcctaTgaattccacgtcagtcattt	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922657T>C	ENST00000329468.2	+	1	2117	c.1643T>C	c.(1642-1644)aTg>aCg	p.M548T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	548					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGCAAGCCTATGAATTCCACG	0.488																																						ENST00000329468.2																			0											c.(1642-1644)aTg>aCg		nuclear pore associated protein 1							177	168	171					15																	24922657		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922657T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1643T>C	15.37:g.24922657T>C	ENSP00000333735:p.Met548Thr						p.M548T	NM_018958.2	NP_061831.2					1	2117	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1643T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.409	0.075619	0.08485	.	.	ENSG00000185823	ENST00000329468	T	0.05319	3.46	1.82	-3.02	0.05446	.	2.363510	0.01941	N	0.041865	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37009	-0.9724	10	0.13108	T	0.6	.	3.6819	0.08313	0.0:0.1696:0.4764:0.354	.	548	Q9NZP6	CO002_HUMAN	T	548	ENSP00000333735:M548T	ENSP00000333735:M548T	M	+	2	0	C15orf2	22473750	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.924000	0.03996	-0.792000	0.04480	0.172000	0.16884	ATG		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		186	799	0	0	0	1	0	186	799					C	24922657	T	C	24922657	3	2	79	1	0	0	0	0	1	0	0	0	1789	1464	51	4	1645	4	C15orf2	15	24922657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36	24922657	77608735	15090	25407											
C15orf2	23742	broad.mit.edu	37	chr15	24923233	24923233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacccagcggcaacactgCctcagtccaaggctccacca	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24923233C>A	ENST00000329468.2	+	1	2693	c.2219C>A	c.(2218-2220)gCc>gAc	p.A740D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	740					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCAACACTGCCTCAGTCCAA	0.547																																						ENST00000329468.2																			0											c.(2218-2220)gCc>gAc		nuclear pore associated protein 1							108	110	109					15																	24923233		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923233C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2219C>A	15.37:g.24923233C>A	ENSP00000333735:p.Ala740Asp						p.A740D	NM_018958.2	NP_061831.2					1	2693	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2219C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916930	0.33815	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	2.31	0.331	0.15933	.	0.631794	0.13178	N	0.407709	T	0.11665	0.0284	L	0.42245	1.32	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.17899	-1.0354	10	0.44086	T	0.13	.	4.4867	0.11794	0.0:0.6493:0.0:0.3507	.	740	Q9NZP6	CO002_HUMAN	D	740	ENSP00000333735:A740D	ENSP00000333735:A740D	A	+	2	0	C15orf2	22474326	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.426000	0.07008	0.089000	0.17243	0.195000	0.17529	GCC		0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		159	752	1	0	4.44197e-71	1	5.64539e-71	159	752					A	24923233	C	A	24923233	3	1	79	1	0	0	0	0	1	0	0	0	1789	739	26	3	2221	3	C15orf2	15	24923233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	576	24923233	77608159	15091	25408											
C15orf2	23742	broad.mit.edu	37	chr15	24924410	24924410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacatggacagagagaaaAttctacacttcaagcaccca	6	12	2	2	rs376448906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24924410A>C	ENST00000329468.2	+	1	3870	c.3396A>C	c.(3394-3396)aaA>aaC	p.K1132N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1132					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAGAGAAAATTCTACACTT	0.483																																						ENST00000329468.2																			0											c.(3394-3396)aaA>aaC		nuclear pore associated protein 1		A	ASN/LYS	0,4406		0,0,2203	126	111	116		3396	-4.1	0	15		116	1,8599		0,1,4299	no	missense	C15orf2	NM_018958.2	94	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	1132/1157	24924410	1,13005	2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924410A>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3396A>C	15.37:g.24924410A>C	ENSP00000333735:p.Lys1132Asn						p.K1132N	NM_018958.2	NP_061831.2					1	3870	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3396A>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.588436	0.28357	0.0	1.16E-4	ENSG00000185823	ENST00000329468	T	0.08896	3.04	2.03	-4.07	0.03975	.	.	.	.	.	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.20107	-1.0285	9	0.48119	T	0.1	.	1.3109	0.02097	0.3645:0.2343:0.2778:0.1235	.	1132	Q9NZP6	CO002_HUMAN	N	1132	ENSP00000333735:K1132N	ENSP00000333735:K1132N	K	+	3	2	C15orf2	22475503	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.823000	0.04443	-2.202000	0.00745	-0.736000	0.03550	AAA		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		139	618	0	0	0	1	0	139	618					C	24924410	A	C	24924410	3	2	79	1	0	0	0	0	1	0	0	0	1789	98	4	4	3398	4	C15orf2	15	24924410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1177	24924410	77606982	15092	25409											
SNRPN	6638	broad.mit.edu	37	chr15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcgaagcaaccagagCgtgaagaaaagcgggttttg	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000400100.1	+	9	1071	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428									Prader-Willi syndrome																													ENST00000444203.2																			1	Substitution - Missense(1)	p.R61C(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(193-195)Cgt>Tgt		small nuclear ribonucleoprotein polypeptide N							87	91	89					15																	25221477		1900	4118	6018	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221477C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.181C>T	15.37:g.25221477C>T	ENSP00000382972:p.Arg61Cys					SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C	p.R65C			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	4	1232	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	61					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.193C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885805	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.21	1.22	0.21188	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.137297	0.48767	D	0.000174	T	0.47358	0.1441	M	0.88979	2.995	0.80722	D	1	P;P	0.34997	0.479;0.479	B;B	0.32677	0.15;0.15	T	0.45716	-0.9242	10	0.62326	D	0.03	-1.3672	5.3002	0.15773	0.1637:0.651:0.0:0.1853	.	65;61	B3KVR1;P63162	.;RSMN_HUMAN	C	61;61;61;65;61;65	ENSP00000382972:R61C;ENSP00000382970:R61C;ENSP00000382969:R61C;ENSP00000452342:R65C;ENSP00000375105:R61C;ENSP00000408767:R65C	ENSP00000375105:R61C	R	+	1	0	SNRPN	22772570	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	4.028000	0.57246	0.296000	0.22592	0.591000	0.81541	CGT		0.428	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		45	284	0	0	0	1	0	45	284					T	25221477	C	T	25221477	3	4	79	1	0	0	0	0	1	0	0	0	14920	768	27	1	191	1	SNRPN	15	25221477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297067	25221477	77309915	15093	25410											
SNRPN	6638	broad.mit.edu	37	chr15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgactgccagtattgctggaGccccaacacagtacccacca	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000400100.1	+	11	1380	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	164					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(502-504)Gcc>Tcc		small nuclear ribonucleoprotein polypeptide N							36	38	37					15																	25222994		1963	4167	6130	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222994G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.490G>T	15.37:g.25222994G>T	ENSP00000382972:p.Ala164Ser					SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S	p.A168S			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	6	1541	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	164					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.502G>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989846	0.74589	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	3.94	3.94	0.45596	.	0.168726	0.51477	N	0.000081	T	0.58495	0.2126	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62338	-0.6875	10	0.87932	D	0	-14.2258	14.2785	0.66196	0.0:0.0:1.0:0.0	.	168;164	B3KVR1;P63162	.;RSMN_HUMAN	S	164;164;164;168;164;168;23	ENSP00000382972:A164S;ENSP00000382970:A164S;ENSP00000382969:A164S;ENSP00000452342:A168S;ENSP00000375105:A164S;ENSP00000408767:A168S	ENSP00000306223:A23S	A	+	1	0	SNRPN;SNURF	22774087	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.292000	0.89930	2.482000	0.83794	0.585000	0.79938	GCC		0.597	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		39	150	1	0	6.2361e-21	1	7.00342e-21	39	150					T	25222994	G	T	25222994	3	4	79	1	0	0	0	0	1	0	0	0	14920	971	34	3	508	3	SNRPN	15	25222994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1517	25222994	77308398	15094	25411											
UBE3A	7337	broad.mit.edu	37	chr15	25601996	25601996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcagtttcaaaagaagAtggattaaaccaaaacaatt	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25601996A>G	ENST00000397954.2	-	6	1809	c.1810T>C	c.(1810-1812)Tct>Cct	p.S604P	UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000232165.3_Missense_Mutation_p.S601P			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	604					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCAAAAGAAGATGGATTAAAC	0.313																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1801-1803)Tct>Cct		ubiquitin protein ligase E3A							145	157	153					15																	25601996		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25601996A>G	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1810T>C	15.37:g.25601996A>G	ENSP00000381045:p.Ser604Pro					UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.S604P	p.S601P	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	8	2457	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	604					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1801T>C	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939995	0.92526	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.71	5.71	0.89125	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61477	0.766;0.889	T	0.61510	-0.7048	10	0.33940	T	0.23	.	15.9836	0.80130	1.0:0.0:0.0:0.0	.	601;604	Q05086-3;Q05086	.;UBE3A_HUMAN	P	601;601;604;581;581	ENSP00000232165:S601P;ENSP00000381045:S604P;ENSP00000411258:S581P;ENSP00000401265:S581P	ENSP00000232165:S601P	S	-	1	0	UBE3A	23153089	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.338000	0.96553	2.185000	0.69588	0.528000	0.53228	TCT		0.313	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		16	1024	0	0	0	1	0	16	1024					G	25601996	A	G	25601996	3	3	79	1	0	0	0	0	1	0	0	0	16933	333	12	4	841	4	UBE3A	15	25601996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379002	25601996	76929396	15095	25412											
UBE3A	7337	broad.mit.edu	37	chr15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcaggattttccatagCgatcatctctagctagtgat	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000397954.2	-	5	1629	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	544					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCATAGCGATCATCTCT	0.353																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1621-1623)Gct>Act		ubiquitin protein ligase E3A							72	65	68					15																	25605662		2202	4300	6502	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25605662C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1630G>A	15.37:g.25605662C>T	ENSP00000381045:p.Ala544Thr					UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.A544T	p.A541T	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	7	2277	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	544					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1621G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.4	5.4	0.78164	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51853	1.615	0.80722	D	1	D;D	0.67145	0.986;0.996	B;B	0.39738	0.288;0.308	D	0.85027	0.0915	10	0.40728	T	0.16	.	19.1816	0.93625	0.0:1.0:0.0:0.0	.	541;544	Q05086-3;Q05086	.;UBE3A_HUMAN	T	541;541;544;521;521	ENSP00000232165:A541T;ENSP00000381045:A544T;ENSP00000411258:A521T;ENSP00000401265:A521T	ENSP00000232165:A541T	A	-	1	0	UBE3A	23156755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.927000	0.63440	2.510000	0.84645	0.655000	0.94253	GCT		0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		31	150	0	0	0	1	0	31	150					T	25605662	C	T	25605662	3	4	79	1	0	0	0	0	1	0	0	0	16933	768	27	1	1025	1	UBE3A	15	25605662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3666	25605662	76925730	15096	25413											
UBE3A	7337	broad.mit.edu	37	chr15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttctattctccattaCgataatgaacaaattcagat	5	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000397954.2	-	4	867	c.868G>A	c.(868-870)Gta>Ata	p.V290I	UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	290			V -> G (in dbSNP:rs1059383). {ECO:0000269|PubMed:8380895, ECO:0000269|PubMed:9143503, ECO:0000269|Ref.9}.		androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTCCATTACGATAATGAAC	0.393																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(859-861)Gta>Ata		ubiquitin protein ligase E3A							54	52	53					15																	25616462		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616462C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.868G>A	15.37:g.25616462C>T	ENSP00000381045:p.Val290Ile					UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.V290I	p.V287I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1515	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	290					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.859G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834978	0.32421	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.33293	1	0.58432	D	0.999998	B;B	0.34313	0.448;0.004	B;B	0.25614	0.062;0.004	T	0.07481	-1.0770	10	0.21014	T	0.42	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	287;290	Q05086-3;Q05086	.;UBE3A_HUMAN	I	287;287;290;267;267	ENSP00000232165:V287I;ENSP00000381045:V290I;ENSP00000411258:V267I;ENSP00000401265:V267I	ENSP00000232165:V287I	V	-	1	0	UBE3A	23167555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.044000	0.57361	2.779000	0.95612	0.591000	0.81541	GTA		0.393	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		47	269	0	0	0	1	0	47	269					T	25616462	C	T	25616462	3	4	79	1	0	0	0	0	1	0	0	0	16933	536	19	1	1791	1	UBE3A	15	25616462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10800	25616462	76914930	15097	25414											
ATP10A	57194	broad.mit.edu	37	chr15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctctccgcctcgtaccGcagctcgcgctctgactcct	10	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	692					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGTACCGCAGCTCGCGC	0.667																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2074-2076)Cgg>Tgg		ATPase, class V, type 10A							35	36	36					15																	25959091		2203	4299	6502	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959091G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2074C>T	15.37:g.25959091G>A	ENSP00000349325:p.Arg692Trp						p.R692W	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2185	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	692					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2074C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199519	0.58126	.	.	ENSG00000206190	ENST00000356865	T	0.63580	-0.05	4.5	3.56	0.40772	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86864	2.845	0.53688	D	0.999978	D	0.76494	0.999	P	0.61658	0.892	T	0.79936	-0.1593	10	0.38643	T	0.18	-30.3787	13.9862	0.64337	0.0:0.0:0.8471:0.1529	.	692	O60312	AT10A_HUMAN	W	692	ENSP00000349325:R692W	ENSP00000349325:R692W	R	-	1	2	ATP10A	23510184	1.000000	0.71417	0.997000	0.53966	0.675000	0.39556	4.994000	0.63901	1.003000	0.39130	0.561000	0.74099	CGG		0.667	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		51	230	0	0	0	1	0	51	230					A	25959091	G	A	25959091	3	1	79	1	0	0	0	0	1	0	0	0	1117	1086	38	1	2473	1	ATP10A	15	25959091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342629	25959091	76572301	15098	25415											
ATP10A	57194	broad.mit.edu	37	chr15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggacactctggtggCtgccgatgctgccgcgctgg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	486					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTCTGGTGGCTGCCGATGCT	0.701																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1456-1458)aGc>aAc		ATPase, class V, type 10A							27	26	26					15																	25963453		2198	4299	6497	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25963453C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1457G>A	15.37:g.25963453C>T	ENSP00000349325:p.Ser486Asn						p.S486N	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	8	1568	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	486					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1457G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021428	0.75275	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.14	5.14	0.70334	HAD-like domain (1);	0.133177	0.64402	D	0.000002	T	0.22282	0.0537	L	0.43757	1.38	0.50313	D	0.999866	P	0.41188	0.741	P	0.53809	0.735	T	0.00636	-1.1633	10	0.33940	T	0.23	-23.9993	18.6071	0.91271	0.0:1.0:0.0:0.0	.	486	O60312	AT10A_HUMAN	N	486	ENSP00000349325:S486N	ENSP00000349325:S486N	S	-	2	0	ATP10A	23514546	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	5.742000	0.68646	2.382000	0.81193	0.655000	0.94253	AGC		0.701	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		28	141	0	0	0	1	0	28	141					T	25963453	C	T	25963453	3	4	79	1	0	0	0	0	1	0	0	0	1117	797	28	2	3098	2	ATP10A	15	25963453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4362	25963453	76567939	15099	25416											
ATP10A	57194	broad.mit.edu	37	chr15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggaccacctgccgcCgcttcaggttggtctctcca	11	17	2	0	rs539032579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	208					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R208Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCTGCCGCCGCTTCAGGTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16301	0.0		0.0	False		,,,				2504	0.001					ENST00000356865.6																			1	Substitution - Missense(1)	p.R208Q(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(622-624)cGg>cAg		ATPase, class V, type 10A							72	74	74					15																	26026197		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026197C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.623G>A	15.37:g.26026197C>T	ENSP00000349325:p.Arg208Gln						p.R208Q	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	734	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	208					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.623G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839056	0.16891	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121989	0.56097	D	0.000034	T	0.55862	0.1947	N	0.00082	-2.215	0.38704	D	0.953065	B	0.11235	0.004	B	0.09377	0.004	T	0.66803	-0.5831	10	0.02654	T	1	-29.3942	4.2405	0.10645	0.0:0.7173:0.0:0.2827	.	208	O60312	AT10A_HUMAN	Q	208	ENSP00000349325:R208Q	ENSP00000349325:R208Q	R	-	2	0	ATP10A	23577290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.672000	0.54583	2.428000	0.82296	0.561000	0.74099	CGG		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		19	439	0	0	0	1	0	19	439					T	26026197	C	T	26026197	3	4	79	1	0	0	0	0	1	0	0	0	1117	652	23	1	3956	1	ATP10A	15	26026197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62744	26026197	76505195	15100	25417											
GABRB3	2562	broad.mit.edu	37	chr15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttgagggcctcttccaaaGaaaatgtagttgacaaaggc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000311550.5	-	8	1104	c.993C>A	c.(991-993)ttC>ttA	p.F331L	GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F387L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTCCAAAGAAAATGTAGT	0.483																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1159-1161)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						139	145	143					15																	26806166		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806166G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.993C>A	15.37:g.26806166G>T	ENSP00000308725:p.Phe331Leu					GABRB3_ENST00000311550.5_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L	p.F387L			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1263	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	331					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1161C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226466	0.79576	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.19	3.28	0.37604	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.55743	1.74	0.80722	D	1	P;P;P	0.46457	0.878;0.717;0.76	B;B;B	0.42245	0.381;0.187;0.378	T	0.82271	-0.0540	10	0.62326	D	0.03	.	11.1972	0.48719	0.1517:0.0:0.8483:0.0	.	387;331;331	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	331;387;331;260;246	ENSP00000308725:F331L;ENSP00000442408:F387L;ENSP00000299267:F331L;ENSP00000383049:F260L;ENSP00000439169:F246L	ENSP00000299267:F331L	F	-	3	2	GABRB3	24357259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	1.174000	0.42811	0.655000	0.94253	TTC		0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			89	438	1	0	2.84431e-33	1	3.36965e-33	89	438					T	26806166	G	T	26806166	3	4	79	1	0	0	0	0	1	0	0	0	6195	933	33	3	436	3	GABRB3	15	26806166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	779969	26806166	75725226	15101	25418											
GABRB3	2562	broad.mit.edu	37	chr15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatttaagaaatatgtgtCgggcacccatagctggtcag	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000311550.5	-	4	469	c.358G>A	c.(358-360)Gac>Aac	p.D120N	GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000541819.2_Missense_Mutation_p.D176N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	120	Agonist binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D120Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATATGTGTCGGGCACCCAT	0.463																																						ENST00000541819.2																			1	Substitution - Missense(1)	p.D120Y(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(526-528)Gac>Aac		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						107	102	104					15																	26866564		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866564C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.358G>A	15.37:g.26866564C>T	ENSP00000308725:p.Asp120Asn					GABRB3_ENST00000311550.5_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N	p.D176N			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	628	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	120					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.526G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652241	0.96724	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.89658	3.05	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	0.94638	0.7828	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	176;120;120	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	120;176;120;49;35;35	ENSP00000308725:D120N;ENSP00000442408:D176N;ENSP00000299267:D120N;ENSP00000383049:D49N;ENSP00000439169:D35N;ENSP00000452272:D35N	ENSP00000299267:D120N	D	-	1	0	GABRB3	24417657	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC		0.463	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			81	373	0	0	0	1	0	81	373					T	26866564	C	T	26866564	3	4	79	1	0	0	0	0	1	0	0	0	6195	884	31	1	1087	1	GABRB3	15	26866564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60398	26866564	75664828	15102	25419											
GABRB3	2562	broad.mit.edu	37	chr15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcggaaaccatgtcgatgCtggcgatgtcgatgttcatc	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000311550.5	-	3	323	c.212G>T	c.(211-213)aGc>aTc	p.S71I	GABRB3_ENST00000541819.2_Missense_Mutation_p.S127I|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	71					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGTCGATGCTGGCGATGTC	0.692																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(379-381)aGc>aTc		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						41	35	37					15																	27017577		2198	4299	6497	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27017577C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.212G>T	15.37:g.27017577C>A	ENSP00000308725:p.Ser71Ile					GABRB3_ENST00000311550.5_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I	p.S127I			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	482	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	71					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.380G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934442	0.73442	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.80738	-1.41;-1.41;-1.41	4.57	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091921	0.85682	D	0.000000	D	0.92977	0.7765	H	0.97240	3.965	0.80722	D	1	D;P;D	0.65815	0.995;0.917;0.993	D;P;D	0.67900	0.917;0.813;0.954	D	0.95584	0.8649	10	0.87932	D	0	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	127;71;71	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	71;127;71	ENSP00000308725:S71I;ENSP00000442408:S127I;ENSP00000299267:S71I	ENSP00000299267:S71I	S	-	2	0	GABRB3	24568670	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.560000	0.73950	2.063000	0.61619	0.313000	0.20887	AGC		0.692	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			16	70	1	0	0.000175454	1	0.000178157	16	70					A	27017577	C	A	27017577	3	1	79	1	0	0	0	0	1	0	0	0	6195	797	28	3	1237	3	GABRB3	15	27017577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151013	27017577	75513815	15103	25420											
GABRA5	2558	broad.mit.edu	37	chr15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccatgaacttatccAgtcactttgggtaagttacc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	26					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAACTTATCCAGTCACTTTGG	0.393																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(76-78)Agt>Ggt		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						175	172	173					15																	27114471		1936	4155	6091	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27114471A>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.76A>G	15.37:g.27114471A>G	ENSP00000335592:p.Ser26Gly					GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G	p.S26G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	3	964	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	26					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.76A>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776450	0.49786	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.80653	-0.55;-0.55;-0.55;-1.08;-1.08;-1.4	5.82	5.82	0.92795	.	0.343920	0.32134	N	0.006526	T	0.62405	0.2425	N	0.08118	0	0.34251	D	0.67878	B	0.02656	0.0	B	0.01281	0.0	T	0.64896	-0.6299	10	0.17832	T	0.49	.	12.5835	0.56403	1.0:0.0:0.0:0.0	.	26	P31644	GBRA5_HUMAN	G	26	ENSP00000335592:S26G;ENSP00000347557:S26G;ENSP00000382953:S26G;ENSP00000451527:S26G;ENSP00000450806:S26G;ENSP00000450717:S26G	ENSP00000335592:S26G	S	+	1	0	GABRA5	24665564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	2.216000	0.71823	0.533000	0.62120	AGT		0.393	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			71	309	0	0	0	1	0	71	309					G	27114471	A	G	27114471	3	3	79	1	0	0	0	0	1	0	0	0	6191	188	7	4	78	4	GABRA5	15	27114471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96894	27114471	75416921	15104	25421											
GABRA5	2558	broad.mit.edu	37	chr15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaagatgaaaggcttcGgtttaaggggcccatgcagc	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAAAGGCTTCGGTTTAAGGGG	0.562																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(328-330)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						107	117	114					15																	27128536		2118	4262	6380	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128536G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.329G>A	15.37:g.27128536G>A	ENSP00000335592:p.Arg110Gln					GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q	p.R110Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	6	1217	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	110					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.329G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651070	0.47362	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.4	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	N	0.000002	T	0.59715	0.2214	N	0.13098	0.295	0.35436	D	0.794458	B	0.06786	0.001	B	0.08055	0.003	T	0.59968	-0.7354	10	0.62326	D	0.03	.	8.0138	0.30368	0.2683:0.0:0.7317:0.0	.	110	P31644	GBRA5_HUMAN	Q	110;110;78;110;110;110;78	ENSP00000335592:R110Q;ENSP00000347557:R110Q;ENSP00000450653:R78Q;ENSP00000382953:R110Q;ENSP00000450806:R110Q;ENSP00000450717:R110Q;ENSP00000450529:R78Q	ENSP00000335592:R110Q	R	+	2	0	GABRA5	24679629	0.033000	0.19621	0.919000	0.36401	0.646000	0.38490	1.164000	0.31810	0.655000	0.30866	0.561000	0.74099	CGG		0.562	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			27	648	0	0	0	1	0	27	648					A	27128536	G	A	27128536	3	1	79	1	0	0	0	0	1	0	0	0	6191	1116	39	1	343	1	GABRA5	15	27128536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14065	27128536	75402856	15105	25422											
GABRA5	2558	broad.mit.edu	37	chr15	27185073	27185073	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatttgcttatttgcaggCgaatacacaatcatgacagc	8	9	2	1	rs369568018	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	ENST00000335625.5	+	9	1614	c.726C>T	c.(724-726)ggC>ggT	p.G242G	GABRA5_ENST00000400081.3_Splice_Site_p.G242G|GABRA5_ENST00000355395.5_Splice_Site_p.G242G|GABRB3_ENST00000541819.2_5'Flank	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	242					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TATTTGCAGGCGAATACACAA	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		20182	0.003		0.0	False		,,,				2504	0.0					ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.e9-1		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						133	130	131					15																	27185073		1999	4185	6184	SO:0001630	splice_region_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185073C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-1C>T	15.37:g.27185073C>T						GABRA5_ENST00000400081.3_Splice_Site_p.G242_splice|GABRA5_ENST00000355395.5_Splice_Site_p.G242_splice	p.G242_splice	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	1614	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	242					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Splice_Site	SNP	ENST00000335625.5	37	c.724_splice	CCDS45194.1																																																																																				0.493	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		Silent	39	184	0	0	0	1	0	39	184					T	27185073	C	T	27185073	5	4	79	1	0	0	0	0	0	0	1	0	6191	782	27	1	752	1	GABRA5	15	27185073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56537	27185073	75346319	15106	25423											
GABRA5	2558	broad.mit.edu	37	chr15	27185111	27185111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcacttccacctgaaaaGgaagattggctactttgtca	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185111G>T	ENST00000335625.5	+	9	1652	c.764G>T	c.(763-765)aGg>aTg	p.R255M	GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M|GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M|GABRB3_ENST00000541819.2_5'Flank	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	255					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CACCTGAAAAGGAAGATTGGC	0.488																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(763-765)aGg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						139	139	139					15																	27185111		2023	4185	6208	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185111G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.764G>T	15.37:g.27185111G>T	ENSP00000335592:p.Arg255Met					GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M|GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M	p.R255M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	1652	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	255					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.764G>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744855	0.89663	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.96830	-4.14;-4.14;-4.14	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99449	1.0940	10	0.87932	D	0	.	17.9859	0.89156	0.0:0.0:1.0:0.0	.	255	P31644	GBRA5_HUMAN	M	255	ENSP00000335592:R255M;ENSP00000347557:R255M;ENSP00000382953:R255M	ENSP00000335592:R255M	R	+	2	0	GABRA5	24767857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.592000	0.98245	2.491000	0.84063	0.561000	0.74099	AGG		0.488	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			44	186	1	0	1.00776e-21	1	1.13667e-21	44	186					T	27185111	G	T	27185111	3	4	79	1	0	0	0	0	1	0	0	0	6191	1000	35	3	790	3	GABRA5	15	27185111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	27185111	75346281	15107	25424											
GABRA5	2558	broad.mit.edu	37	chr15	27188450	27188450	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgccaccgccatggactgGttcatagccgtgtgctatgc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	ENST00000335625.5	+	10	1854	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	322					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCATGGACTGGTTCATAGCCG	0.582																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(964-966)tgG>tgA		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						28	30	30					15																	27188450		2128	4273	6401	SO:0001587	stop_gained	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188450G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.966G>A	15.37:g.27188450G>A	ENSP00000335592:p.Trp322*					GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1854	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	322					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.966G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	40	8.056675	0.98632	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	.	.	.	X	322	.	ENSP00000335592:W322X	W	+	3	0	GABRA5	24771196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	TGG		0.582	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			12	35	0	0	0	1	0	12	35					A	27188450	G	A	27188450	4	1	79	1	0	0	0	0	0	1	0	0	6191	1270	44	2	996	2	GABRA5	15	27188450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3339	27188450	75342942	15108	25425											
GABRG3	2567	broad.mit.edu	37	chr15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattctaaaaccgcagagGctcactggatcaccacaccc	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	141					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACCGCAGAGGCTCACTGGAT	0.453																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(421-423)Gct>Act		gamma-aminobutyric acid (GABA) A receptor, gamma 3							87	87	87					15																	27572106		1992	4183	6175	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572106G>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.421G>A	15.37:g.27572106G>A	ENSP00000331912:p.Ala141Thr					GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	675	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	141					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.421G>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822371	0.71028	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77620	-1.11;-1.11;-1.11	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053250	0.85682	D	0.000000	D	0.84674	0.5524	L	0.60455	1.87	0.41409	D	0.987727	P;P	0.41978	0.767;0.725	P;P	0.54431	0.752;0.611	D	0.84862	0.0820	10	0.62326	D	0.03	.	19.0355	0.92976	0.0:0.0:1.0:0.0	.	141;141	Q99928;G3V594	GBRG3_HUMAN;.	T	141;141;83	ENSP00000331912:A141T;ENSP00000452244:A141T;ENSP00000451862:A83T	ENSP00000331912:A141T	A	+	1	0	GABRG3	25154852	1.000000	0.71417	0.995000	0.50966	0.517000	0.34286	4.933000	0.63484	2.722000	0.93159	0.655000	0.94253	GCT		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			57	234	0	0	0	1	0	57	234					A	27572106	G	A	27572106	3	1	79	1	0	0	0	0	1	0	0	0	6200	1203	42	2	435	2	GABRG3	15	27572106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383656	27572106	74959286	15109	25426											
HERC2	8924	broad.mit.edu	37	chr15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtggtctggagggTtgtatttatccaacacctgt	14	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GTCTGGAGGGTTGTATTTATC	0.473																																						ENST00000261609.7																			0				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						c.(14248-14250)aAc>aGc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							82	71	75					15																	28357165		2203	4300	6503	SO:0001583	missense	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.chr15:28357165T>C	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.14249A>G	15.37:g.28357165T>C	ENSP00000261609:p.Asn4750Ser						p.N4750S	NM_004667.5	NP_004658.3	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)	93	14357	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4750			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14249A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027429	0.75390	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.84	4.72	0.59763	HECT (4);	0.045918	0.85682	N	0.000000	T	0.46658	0.1404	L	0.27053	0.805	0.80722	D	1	P;B	0.49090	0.919;0.034	P;B	0.60173	0.87;0.038	T	0.40098	-0.9581	10	0.46703	T	0.11	.	11.797	0.52106	0.0:0.0683:0.0:0.9317	.	4750;439	O95714;Q8ND39	HERC2_HUMAN;.	S	4750	ENSP00000261609:N4750S	ENSP00000261609:N4750S	N	-	2	0	HERC2	26030760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	1.039000	0.40074	0.533000	0.62120	AAC		0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		33	341	0	0	0	1	0	33	341					C	28357165	T	C	28357165	3	2	79	1	0	0	0	0	1	0	0	0	7088	1725	60	4	259	4	HERC2	15	28357165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	785059	28357165	74174227	15110	25427											
HERC2	8924	broad.mit.edu	37	chr15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgaaggaaaagagagcGctctgtgttggagaaggact	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AAAAGAGAGCGCTCTGTGTTG	0.607																																						ENST00000261609.7																			0				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						c.(14146-14148)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							70	64	66					15																	28358303		2203	4300	6503	SO:0001583	missense	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.chr15:28358303G>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.14146C>T	15.37:g.28358303G>A	ENSP00000261609:p.Arg4716Cys						p.R4716C	NM_004667.5	NP_004658.3	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)	92	14254	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4716			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14146C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574110	0.86542	.	.	ENSG00000128731	ENST00000261609	T	0.54071	0.59	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.964;0.987	D	0.86189	0.1611	10	0.87932	D	0	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	4716;405	O95714;Q8ND39	HERC2_HUMAN;.	C	4716	ENSP00000261609:R4716C	ENSP00000261609:R4716C	R	-	1	0	HERC2	26031898	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.274000	0.58921	2.331000	0.79229	0.561000	0.74099	CGC		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		68	258	0	0	0	1	0	68	258					A	28358303	G	A	28358303	3	1	79	1	0	0	0	0	1	0	0	0	7088	1087	38	1	366	1	HERC2	15	28358303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	28358303	74173089	15111	25428											
HERC2	8924	broad.mit.edu	37	chr15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggtcggcataccatcGtctccagttcgtagccggtg	14	12	1	0	rs144912188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCATACCATCGTCTCCAGTTC	0.582																																						ENST00000261609.7																			0				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						c.(14014-14016)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G	MET/THR	0,4406		0,0,2203	85	79	81		14015	5.3	1	15	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	HERC2	NM_004667.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4672/4835	28358723	1,13005	2203	4300	6503	SO:0001583	missense	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.chr15:28358723G>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.14015C>T	15.37:g.28358723G>A	ENSP00000261609:p.Thr4672Met						p.T4672M	NM_004667.5	NP_004658.3	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)	91	14123	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4672			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14015C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712289	0.68730	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.33	5.33	0.75918	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	L	0.49640	1.575	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64144	0.788;0.922	T	0.73307	-0.4024	10	0.72032	D	0.01	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4672;361	O95714;Q8ND39	HERC2_HUMAN;.	M	4672	ENSP00000261609:T4672M	ENSP00000261609:T4672M	T	-	2	0	HERC2	26032318	1.000000	0.71417	0.954000	0.39281	0.172000	0.22775	9.801000	0.99128	2.503000	0.84419	0.561000	0.74099	ACG		0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		40	206	0	0	0	1	0	40	206					A	28358723	G	A	28358723	3	1	79	1	0	0	0	0	1	0	0	0	7088	1145	40	1	501	1	HERC2	15	28358723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	28358723	74172669	15112	25429											
HERC2	8924	broad.mit.edu	37	chr15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatggtgaggctcatcccaGccagctgcttccagacaggc	12	14	1	2	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCTCATCCCAGCCAGCTGCTT	0.612																																						ENST00000261609.7																			0				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						c.(13687-13689)gCt>gAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65	57	60					15																	28360609		2203	4300	6503	SO:0001583	missense	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.chr15:28360609G>T	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.13688C>A	15.37:g.28360609G>T	ENSP00000261609:p.Ala4563Asp						p.A4563D	NM_004667.5	NP_004658.3	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)	89	13796	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4563			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13688C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687309	0.96784	.	.	ENSG00000128731	ENST00000261609	T	0.58506	0.33	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72982	0.979;0.972	T	0.81004	-0.1129	10	0.87932	D	0	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	4563;252	O95714;Q8ND39	HERC2_HUMAN;.	D	4563	ENSP00000261609:A4563D	ENSP00000261609:A4563D	A	-	2	0	HERC2	26034204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.601000	0.87937	0.655000	0.94253	GCT		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		35	161	1	0	1.49673e-21	1	1.68722e-21	35	161					T	28360609	G	T	28360609	3	4	79	1	0	0	0	0	1	0	0	0	7088	971	34	3	836	3	HERC2	15	28360609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	28360609	74170783	15113	25430											
HERC2	8924	broad.mit.edu	37	chr15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtcgctgtgccccaGccggccgtagcggcctttgc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CTGTGCCCCAGCCGGCCGTAG	0.647																																						ENST00000261609.7																			0				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						c.(12367-12369)Ctg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46	48	47					15																	28377840		2201	4300	6501	SO:0001583	missense	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.chr15:28377840G>T	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.12367C>A	15.37:g.28377840G>T	ENSP00000261609:p.Leu4123Met						p.L4123M	NM_004667.5	NP_004658.3	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)	80	12475	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4123						Missense_Mutation	SNP	ENST00000261609.7	37	c.12367C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677307	0.68042	.	.	ENSG00000128731	ENST00000261609	D	0.97161	-4.27	4.86	3.94	0.45596	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167980	0.38381	N	0.001718	D	0.99032	0.9669	H	0.98446	4.235	0.58432	D	0.999999	P	0.51351	0.944	D	0.68353	0.957	D	0.98968	1.0800	10	0.87932	D	0	.	13.7802	0.63079	0.0755:0.0:0.9245:0.0	.	4123	O95714	HERC2_HUMAN	M	4123	ENSP00000261609:L4123M	ENSP00000261609:L4123M	L	-	1	2	HERC2	26051435	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	4.856000	0.62932	1.168000	0.42723	0.555000	0.69702	CTG		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		108	395	1	0	3.0784e-53	1	3.83574e-53	108	395					T	28377840	G	T	28377840	3	4	79	1	0	0	0	0	1	0	0	0	7088	962	34	3	2193	3	HERC2	15	28377840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17231	28377840	74153552	15114	25431											
HERC2	8924	broad.mit.edu	37	chr15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccggggcgatcatggCggccggcatcagggccccga	15	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCGATCATGGCGGCCGGCATC	0.632																																						ENST00000261609.7																			0				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						c.(10261-10263)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							32	34	33					15																	28413705		2203	4300	6503	SO:0001583	missense	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.chr15:28413705C>T	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.10261G>A	15.37:g.28413705C>T	ENSP00000261609:p.Ala3421Thr						p.A3421T	NM_004667.5	NP_004658.3	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)	67	10369	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3421						Missense_Mutation	SNP	ENST00000261609.7	37	c.10261G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640486	0.29157	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.46	0.624	0.17659	.	0.137592	0.64402	D	0.000006	T	0.13927	0.0337	N	0.03608	-0.345	0.24273	N	0.995238	B	0.24426	0.103	B	0.19666	0.026	T	0.18461	-1.0336	10	0.38643	T	0.18	.	7.3517	0.26695	0.0:0.3306:0.0:0.6694	.	3421	O95714	HERC2_HUMAN	T	3421	ENSP00000261609:A3421T	ENSP00000261609:A3421T	A	-	1	0	HERC2	26087300	0.977000	0.34250	0.327000	0.25402	0.051000	0.14879	2.057000	0.41365	0.293000	0.22520	0.491000	0.48974	GCC		0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		77	313	0	0	0	1	0	77	313					T	28413705	C	T	28413705	3	4	79	1	0	0	0	0	1	0	0	0	7088	768	27	1	4351	1	HERC2	15	28413705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35865	28413705	74117687	15115	25432											
HERC2	8924	broad.mit.edu	37	chr15	28446601	28446601	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaagacaattactcaCctgaatattctctctcacat	3	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAATTACTCACCTGAATATTC	0.433																																						ENST00000261609.7																			0				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						c.e48+1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97	89	92					15																	28446601		2203	4299	6502	SO:0001630	splice_region_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.chr15:28446601C>T	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.7716+1G>A	15.37:g.28446601C>T								NM_004667.5	NP_004658.3	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)	48	7825	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37		CCDS10021.1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.411424	0.83340	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26120196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.629000	0.83207	2.577000	0.86979	0.561000	0.74099	.		0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	71	311	0	0	0	1	0	71	311					T	28446601	C	T	28446601	5	4	79	1	0	0	0	0	0	0	1	0	7088	521	18	2	6971	2	HERC2	15	28446601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32896	28446601	74084791	15116	25433											
HERC2	8924	broad.mit.edu	37	chr15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcattccatacatgtcTtgtccgtcgttccgctttcc	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CATACATGTCTTGTCCGTCGT	0.557																																						ENST00000261609.7																			0				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						c.(6022-6024)aAg>aCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65	80	74					15																	28463640		1391	2356	3747	SO:0001583	missense	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.chr15:28463640T>G	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.6023A>C	15.37:g.28463640T>G	ENSP00000261609:p.Lys2008Thr						p.K2008T	NM_004667.5	NP_004658.3	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)	38	6131	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2008						Missense_Mutation	SNP	ENST00000261609.7	37	c.6023A>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	9.983	1.228679	0.22542	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.25	0.37280	.	0.110120	0.64402	N	0.000015	T	0.28962	0.0719	L	0.33485	1.01	0.58432	D	0.999999	B	0.18741	0.03	B	0.15052	0.012	T	0.05616	-1.0874	10	0.15952	T	0.53	.	11.3329	0.49487	0.0:0.0:0.1525:0.8475	.	2008	O95714	HERC2_HUMAN	T	2008	ENSP00000261609:K2008T	ENSP00000261609:K2008T	K	-	2	0	HERC2	26137235	1.000000	0.71417	0.984000	0.44739	0.404000	0.30871	3.061000	0.49963	0.805000	0.34159	0.528000	0.53228	AAG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		93	408	0	0	0	1	0	93	408					G	28463640	T	G	28463640	3	3	79	1	0	0	0	0	1	0	0	0	7088	1609	56	4	8705	4	HERC2	15	28463640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17039	28463640	74067752	15117	25434											
HERC2	8924	broad.mit.edu	37	chr15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggaattgagcagaaggtCgaggttgtttgcgccgtgct	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AGCAGAAGGTCGAGGTTGTTT	0.612																																						ENST00000261609.7																			0				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						c.(5407-5409)Gac>Aac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							80	61	67					15																	28473421		2203	4300	6503	SO:0001583	missense	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.chr15:28473421C>T	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.5407G>A	15.37:g.28473421C>T	ENSP00000261609:p.Asp1803Asn						p.D1803N	NM_004667.5	NP_004658.3	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)	35	5515	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1803						Missense_Mutation	SNP	ENST00000261609.7	37	c.5407G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363679	0.05103	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.21	0.74	0.18330	.	0.334862	0.33875	N	0.004471	T	0.10208	0.0250	N	0.02011	-0.69	0.27090	N	0.962869	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.05525	T	0.97	.	7.4641	0.27312	0.0:0.2304:0.0:0.7696	.	1803	O95714	HERC2_HUMAN	N	1803	ENSP00000261609:D1803N	ENSP00000261609:D1803N	D	-	1	0	HERC2	26147016	1.000000	0.71417	0.888000	0.34837	0.289000	0.27227	2.211000	0.42825	0.065000	0.16485	-0.234000	0.12200	GAC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	209	0	0	0	1	0	15	209					T	28473421	C	T	28473421	3	4	79	1	0	0	0	0	1	0	0	0	7088	884	31	1	9333	1	HERC2	15	28473421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9781	28473421	74057971	15118	25435											
HERC2	8924	broad.mit.edu	37	chr15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcctttaagcccggctAccagcatcggaatggcctcg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		AAGCCCGGCTACCAGCATCGG	0.572																																						ENST00000261609.7																			0				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						c.(1789-1791)gTa>gCa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							171	118	136					15																	28510844		2203	4300	6503	SO:0001583	missense	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.chr15:28510844A>G	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.1790T>C	15.37:g.28510844A>G	ENSP00000261609:p.Val597Ala						p.V597A	NM_004667.5	NP_004658.3	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)	14	1898	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	597						Missense_Mutation	SNP	ENST00000261609.7	37	c.1790T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083169	0.94050	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.92122	3.275	0.80722	D	1	D	0.62365	0.991	D	0.80764	0.994	D	0.96716	0.9529	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	597	O95714	HERC2_HUMAN	A	597	ENSP00000261609:V597A	ENSP00000261609:V597A	V	-	2	0	HERC2	26184439	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	8.806000	0.91930	2.202000	0.70862	0.491000	0.48974	GTA		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		72	344	0	0	0	1	0	72	344					G	28510844	A	G	28510844	3	3	79	1	0	0	0	0	1	0	0	0	7088	391	14	4	13034	4	HERC2	15	28510844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37423	28510844	74020548	15119	25436											
HERC2	8924	broad.mit.edu	37	chr15	28510973	28510973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgtaccatggcccagCcggccgtagttcccgcggcc	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CATGGCCCAGCCGGCCGTAGT	0.627																																						ENST00000261609.7																			0				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						c.(1744-1746)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							51	48	49					15																	28510973		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.chr15:28510973C>T	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.1746G>A	15.37:g.28510973C>T							p.R582R	NM_004667.5	NP_004658.3	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)	13	1854	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	582						Silent	SNP	ENST00000261609.7	37	c.1746G>A	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		56	272	0	0	0	1	0	56	272					T	28510973	C	T	28510973	2	4	79	1	0	0	0	0	0	0	0	1	7088	726	26	2		2	HERC2	15	28510973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	28510973	74020419	15120	25437											
HERC2	8924	broad.mit.edu	37	chr15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataggcctgtgtgtacaCgcggccattgcgtgacagaa	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TGTGTGTACACGCGGCCATTG	0.557																																						ENST00000261609.7																			0				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						c.(1414-1416)Gtg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							88	67	74					15																	28514426		2203	4300	6503	SO:0001583	missense	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.chr15:28514426C>T	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.1414G>A	15.37:g.28514426C>T	ENSP00000261609:p.Val472Met						p.V472M	NM_004667.5	NP_004658.3	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)	11	1522	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	472						Missense_Mutation	SNP	ENST00000261609.7	37	c.1414G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272161	0.40194	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.065567	0.64402	D	0.000013	T	0.80874	0.4707	L	0.59912	1.85	0.51482	D	0.999924	P	0.47910	0.902	B	0.33521	0.165	D	0.84544	0.0640	10	0.87932	D	0	.	15.4685	0.75422	0.0:0.862:0.138:0.0	.	472	O95714	HERC2_HUMAN	M	472	ENSP00000261609:V472M	ENSP00000261609:V472M	V	-	1	0	HERC2	26188021	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.492000	0.66893	2.718000	0.92993	0.650000	0.86243	GTG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		17	122	0	0	0	1	0	17	122					T	28514426	C	T	28514426	3	4	79	1	0	0	0	0	1	0	0	0	7088	536	19	1	13422	1	HERC2	15	28514426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3453	28514426	74016966	15121	25438											
APBA2	321	broad.mit.edu	37	chr15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaccagaagacctcatcGacgggatcatctttgctgcc	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	368	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCTCATCGACGGGATCAT	0.537																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1102-1104)Gac>Aac		amyloid beta (A4) precursor protein-binding, family A, member 2							118	107	111					15																	29385310		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29385310G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1102G>A	15.37:g.29385310G>A	ENSP00000453293:p.Asp368Asn					APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N	p.D368N			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1701	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	368			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1102G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303623	0.81136	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.54675	0.56	5.01	5.01	0.66863	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.71674	0.863;0.86;0.998;0.936	B;B;P;B	0.60682	0.255;0.189;0.878;0.425	T	0.66352	-0.5945	10	0.56958	D	0.05	.	17.3238	0.87242	0.0:0.0:1.0:0.0	.	368;72;368;368	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	368;368;72	ENSP00000409312:D368N	ENSP00000219865:D368N	D	+	1	0	APBA2	27172602	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAC		0.537	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		42	436	0	0	0	1	0	42	436					A	29385310	G	A	29385310	3	1	79	1	0	0	0	0	1	0	0	0	757	1058	37	1	1116	1	APBA2	15	29385310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870884	29385310	73146082	15122	25439											
APBA2	321	broad.mit.edu	37	chr15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtaccatctcctacatcGccgacattgggaacattgta	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	461	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCTACATCGCCGACATTGG	0.587																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1381-1383)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family A, member 2							106	75	85					15																	29393844		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393844G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1381G>A	15.37:g.29393844G>A	ENSP00000453293:p.Ala461Thr					APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T	p.A461T			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1980	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	461			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1381G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312706	0.95655	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.32272	1.46	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.130099	0.48767	D	0.000177	T	0.57198	0.2037	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.991;1.0;0.976;0.977	T	0.64158	-0.6473	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	449;153;449;461	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	449;461;153	ENSP00000409312:A449T	ENSP00000219865:A461T	A	+	1	0	APBA2	27181136	1.000000	0.71417	0.606000	0.28943	0.985000	0.73830	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GCC		0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		21	108	0	0	0	1	0	21	108					A	29393844	G	A	29393844	3	1	79	1	0	0	0	0	1	0	0	0	757	1087	38	1	1407	1	APBA2	15	29393844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8534	29393844	73137548	15123	25440											
NDNL2	56160	broad.mit.edu	37	chr15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtttgaagaggtcggGgaagatgtccttgtagtccc	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	124	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(370-372)Ccc>Tcc		necdin-like 2							91	86	87					15																	29561540		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561540G>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.370C>T	15.37:g.29561540G>A	ENSP00000330694:p.Pro124Ser					FAM189A1_ENST00000261275.4_Intron	p.P124S	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	493	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	124			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.370C>T	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826058	0.16749	.	.	ENSG00000185115	ENST00000332303	T	0.05199	3.48	3.8	0.771	0.18504	.	0.307886	0.30704	U	0.009044	T	0.10508	0.0257	L	0.59436	1.845	0.09310	N	0.999996	P	0.41498	0.752	P	0.51016	0.656	T	0.09164	-1.0687	10	0.48119	T	0.1	.	3.9345	0.09299	0.2245:0.1991:0.5764:0.0	.	124	Q96MG7	MAGG1_HUMAN	S	124	ENSP00000330694:P124S	ENSP00000330694:P124S	P	-	1	0	NDNL2	27348832	0.785000	0.28726	0.005000	0.12908	0.255000	0.26057	0.330000	0.19715	0.169000	0.19679	-0.251000	0.11542	CCC		0.532	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		86	476	0	0	0	1	0	86	476					A	29561540	G	A	29561540	3	1	79	1	0	0	0	0	1	0	0	0	10290	1232	43	2	548	2	NDNL2	15	29561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167696	29561540	72969852	15124	25441											
TJP1	7082	broad.mit.edu	37	chr15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggagggggagtggcCtggatgggttcatagcgttt	21	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000346128.6	-	24	4743	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGGAGTGGCCTGGATGGGTT	0.527																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4267-4269)caG>caT		tight junction protein 1							174	188	184					15																	30003138		2061	4204	6265	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003138C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4269G>T	15.37:g.30003138C>A	ENSP00000281537:p.Gln1423His					TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H	p.Q1423H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4743	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1423					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4269G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395094	0.42512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.42131	0.98;0.98	5.62	3.53	0.40419	.	0.201017	0.47093	D	0.000248	T	0.52549	0.1741	L	0.54323	1.7	0.21355	N	0.999712	D;D;P;D	0.65815	0.992;0.988;0.956;0.995	P;P;P;D	0.77004	0.838;0.847;0.564;0.989	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.0942	0.14725	0.2127:0.5753:0.0:0.212	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1423;1347;1423;1343;1343	ENSP00000281537:Q1423H;ENSP00000382890:Q1347H	ENSP00000281537:Q1423H	Q	-	3	2	TJP1	27790430	1.000000	0.71417	0.631000	0.29282	0.413000	0.31143	1.573000	0.36472	1.379000	0.46325	-0.136000	0.14681	CAG		0.527	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		162	750	1	0	3.23106e-57	1	4.04638e-57	162	750					A	30003138	C	A	30003138	3	1	79	1	0	0	0	0	1	0	0	0	15981	680	24	3	997	3	TJP1	15	30003138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441598	30003138	72528254	15125	25442											
TJP1	7082	broad.mit.edu	37	chr15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtctgctgtcgtaagAcagaggggctggctcttcaa	14	9	3	2	rs141258029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000346128.6	-	21	3889	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1139					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGTCGTAAGACAGAGGGGCT	0.537													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20578	0.0		0.0	False		,,,				2504	0.0				Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(3415-3417)Tct>Cct		tight junction protein 1							144	146	145					15																	30010931		2092	4212	6304	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30010931A>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3415T>C	15.37:g.30010931A>G	ENSP00000281537:p.Ser1139Pro					TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P	p.S1139P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3889	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1139					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3415T>C	CCDS42007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.50	2.254561	0.39896	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08008	3.14;3.25	5.93	-2.63	0.06133	.	0.565561	0.20714	N	0.087029	T	0.06600	0.0169	L	0.56769	1.78	0.25561	N	0.986993	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.39692	T	0.17	.	2.7068	0.05164	0.2688:0.3544:0.2722:0.1047	.	1132;1059;1139;1063	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1139;1063;1139;1059;1059	ENSP00000281537:S1139P;ENSP00000382890:S1063P	ENSP00000281537:S1139P	S	-	1	0	TJP1	27798223	0.966000	0.33281	0.010000	0.14722	0.859000	0.49053	0.557000	0.23454	-0.367000	0.08052	0.460000	0.39030	TCT		0.537	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		129	645	0	0	0	1	0	129	645					G	30010931	A	G	30010931	3	3	79	1	0	0	0	0	1	0	0	0	15981	275	10	4	1863	4	TJP1	15	30010931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7793	30010931	72520461	15126	25443											
TJP1	7082	broad.mit.edu	37	chr15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaaggtcttgagagtgCtgattatcaaaaggtggccg	14	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000346128.6	-	21	3801	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1109					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTGAGAGTGCTGATTATCAA	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(3325-3327)caG>caT		tight junction protein 1							215	213	214					15																	30011019		2087	4211	6298	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30011019C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3327G>T	15.37:g.30011019C>A	ENSP00000281537:p.Gln1109His					TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H	p.Q1109H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3801	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1109					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3327G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042766	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.27	6.06	3.13	0.36017	.	0.270402	0.43416	N	0.000561	T	0.14700	0.0355	L	0.58101	1.795	0.80722	D	1	D;D;D;B	0.62365	0.991;0.975;0.966;0.001	P;P;P;B	0.54140	0.646;0.743;0.641;0.007	T	0.01108	-1.1449	10	0.52906	T	0.07	.	6.8109	0.23805	0.0:0.6724:0.1273:0.2003	.	1102;1029;1109;1033	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1109;1033;1109;1029;1029	ENSP00000281537:Q1109H;ENSP00000382890:Q1033H	ENSP00000281537:Q1109H	Q	-	3	2	TJP1	27798311	0.999000	0.42202	0.988000	0.46212	0.959000	0.62525	0.657000	0.24963	0.424000	0.26061	-0.140000	0.14226	CAG		0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		120	609	1	0	1.24258e-46	1	1.52757e-46	120	609					A	30011019	C	A	30011019	3	1	79	1	0	0	0	0	1	0	0	0	15981	796	28	3	1951	3	TJP1	15	30011019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	30011019	72520373	15127	25444											
TJP1	7082	broad.mit.edu	37	chr15	30012008	30012008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacatgcgacgacaaTgatggttcttgatctcttag	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000346128.6	-	20	3450	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	992					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGACGACAATGATGGTTCTT	0.463																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2974-2976)tcA>tcG		tight junction protein 1							193	190	191					15																	30012008		2036	4182	6218	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012008T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2976A>G	15.37:g.30012008T>C						TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Silent_p.S992S	p.S992S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	20	3450	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	992					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.2976A>G	CCDS42007.1																																																																																				0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		114	539	0	0	0	1	0	114	539					C	30012008	T	C	30012008	2	2	79	1	0	0	0	0	0	0	0	1	15981	1451	51	4		4	TJP1	15	30012008	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	989	30012008	72519384	15128	25445											
TJP1	7082	broad.mit.edu	37	chr15	30065561	30065561	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatccaaatccaggagcCtaaagtaaaaattacagtaa	5	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1						apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCCAGGAGCCTAAAGTAAAA	0.318																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.e3-1		tight junction protein 1							81	73	76					15																	30065561		1812	4070	5882	SO:0001630	splice_region_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30065561C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.85-1G>T	15.37:g.30065561C>A						TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000356107.6_Splice_Site		NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	3	559	-		all_lung(180;7.48e-11)|Breast(32;0.000153)						B4E3K1|Q2NKP3|Q4ZGJ6	Splice_Site	SNP	ENST00000346128.6	37		CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274696	0.40194	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7625	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TJP1	27852853	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.701000	0.84566	2.749000	0.94314	0.585000	0.79938	.		0.318	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	Intron	50	287	1	0	1.86633e-21	1	2.10207e-21	50	287					A	30065561	C	A	30065561	5	1	79	1	0	0	0	0	0	0	1	0	15981	695	24	3	5266	3	TJP1	15	30065561	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	30065561	72465831	15129	25446											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtggtactgcagcaCgatcaccgtcaccaccaccg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000299847.2	-	9	1123	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637																																						ENST00000397827.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(397-399)Gtg>Atg		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion							149	123	131					15																	30659671		2191	4288	6479	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659671C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.670G>A	15.37:g.30659671C>T	ENSP00000299847:p.Val224Met					CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V224M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	p.V133M	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	8	1171	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	224					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.397G>A	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193467	0.78902	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.90504	-2.68;-2.68;-2.68	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055343	0.64402	D	0.000001	D	0.96448	0.8841	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97057	0.9768	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	224	Q494W8	CRFM7_HUMAN	M	224;133;133	ENSP00000299847:V224M;ENSP00000380927:V133M;ENSP00000385389:V133M	ENSP00000299847:V224M	V	-	1	0	CHRFAM7A	28446963	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	GTG		0.637	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		21	377	0	0	0	1	0	21	377					T	30659671	C	T	30659671	3	4	79	1	0	0	0	0	1	0	0	0	3384	536	19	1	576	1	CHRFAM7A	15	30659671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594110	30659671	71871721	15130	25447											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcaggatctgtgattcGcctaaaagcactaaaggtga	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	94	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTGTGATTCGCCTAAAAGCA	0.323																																						ENST00000428041.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8						c.(280-282)cGc>cAc		Rho GTPase activating protein 11B							75	79	77					15																	30925773		2202	4300	6502	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30925773G>A	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"Rho GTPase activating proteins"	15782	protein-coding gene	gene with protein product	"GAP (1-8)"		"family with sequence similarity 7, member B1"	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.281G>A	15.37:g.30925773G>A	ENSP00000392760:p.Arg94His						p.R94H	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	3	426	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	94			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.281G>A	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406947	0.42715	.	.	ENSG00000187951	ENST00000428041	T	0.20069	2.1	1.94	0.99	0.19807	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	U	0.000254	T	0.39489	0.1080	M	0.76002	2.32	0.45515	D	0.998477	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.72032	D	0.01	.	6.5968	0.22679	0.1673:0.0:0.8327:0.0	.	94	Q3KRB8	RHGBB_HUMAN	H	94	ENSP00000392760:R94H	ENSP00000392760:R94H	R	+	2	0	ARHGAP11B	28713065	1.000000	0.71417	0.978000	0.43139	0.479000	0.33129	7.878000	0.87231	0.364000	0.24374	0.384000	0.25694	CGC		0.323	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		65	301	0	0	0	1	0	65	301					A	30925773	G	A	30925773	3	1	79	1	0	0	0	0	1	0	0	0	864	1087	38	1	291	1	ARHGAP11B	15	30925773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266102	30925773	71605619	15131	25448											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30927350	30927350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatcttcttcagacaAgtgaaggacatgaaaagatg	8	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30927350A>C	ENST00000428041.2	+	5	764	c.619A>C	c.(619-621)Agt>Cgt	p.S207R		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	207	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTCAGACAAGTGAAGGACA	0.378																																						ENST00000428041.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8						c.(619-621)Agt>Cgt		Rho GTPase activating protein 11B							120	106	110					15																	30927350		2202	4300	6502	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30927350A>C	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"Rho GTPase activating proteins"	15782	protein-coding gene	gene with protein product	"GAP (1-8)"		"family with sequence similarity 7, member B1"	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.619A>C	15.37:g.30927350A>C	ENSP00000392760:p.Ser207Arg						p.S207R	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	5	764	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	207			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.619A>C	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	6.063	0.379903	0.11466	.	.	ENSG00000187951	ENST00000428041	T	0.18338	2.22	1.64	-1.04	0.10068	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.553031	0.12299	U	0.481287	T	0.08537	0.0212	N	0.17379	0.485	0.21697	N	0.999585	B	0.33612	0.419	B	0.38156	0.266	T	0.37103	-0.9720	10	0.14252	T	0.57	.	3.3373	0.07106	0.5486:0.2285:0.0:0.2229	.	207	Q3KRB8	RHGBB_HUMAN	R	207	ENSP00000392760:S207R	ENSP00000392760:S207R	S	+	1	0	ARHGAP11B	28714642	1.000000	0.71417	0.985000	0.45067	0.187000	0.23431	3.975000	0.56859	-0.290000	0.09025	0.136000	0.15936	AGT		0.378	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		8	390	0	0	0	1	0	8	390					C	30927350	A	C	30927350	3	2	79	1	0	0	0	0	1	0	0	0	864	72	3	4	637	4	ARHGAP11B	15	30927350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1577	30927350	71604042	15132	25449											
MTMR15	22909	broad.mit.edu	37	chr15	31202973	31202973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaacagcgttcagtctgcaCttggggcaagaataagcctg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31202973C>A	ENST00000362065.4	+	4	1823	c.1532C>A	c.(1531-1533)aCt>aAt	p.T511N	FAN1_ENST00000561607.1_Missense_Mutation_p.T511N|FAN1_ENST00000565466.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	511					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.T511N(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGTCTGCACTTGGGGCAAG	0.413								Direct reversal of damage																														ENST00000362065.4																			1	Substitution - Missense(1)	p.T511N(1)	lung(1)	autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1531-1533)aCt>aAt	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							90	86	87					15																	31202973		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202973C>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1532C>A	15.37:g.31202973C>A	ENSP00000354497:p.Thr511Asn					FAN1_ENST00000561607.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N|FAN1_ENST00000565466.1_Missense_Mutation_p.T511N	p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1823	+			511					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1532C>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.108083	0.20714	.	.	ENSG00000198690	ENST00000362065	T	0.36878	1.23	5.6	1.21	0.21127	.	0.565661	0.20069	N	0.099906	T	0.18635	0.0447	L	0.29908	0.895	0.22819	N	0.998691	B;B;B	0.32350	0.009;0.037;0.366	B;B;B	0.30646	0.007;0.008;0.118	T	0.06534	-1.0821	10	0.27785	T	0.31	-4.9661	1.6852	0.02840	0.1502:0.4437:0.2224:0.1837	.	511;511;511	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	N	511	ENSP00000354497:T511N	ENSP00000354497:T511N	T	+	2	0	FAN1	28990265	0.525000	0.26290	0.600000	0.28864	0.198000	0.23893	0.843000	0.27640	0.742000	0.32697	-0.253000	0.11424	ACT		0.413	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		56	190	1	0	6.176e-18	1	6.83652e-18	56	190					A	31202973	C	A	31202973	3	1	79	1	0	0	0	0	1	0	0	0	9984	565	20	3	1542	3	MTMR15	15	31202973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275623	31202973	71328419	15133	25450											
TRPM1	4308	broad.mit.edu	37	chr15	31318431	31318431	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcacgcactgctcctcGaactcatgcagcctctttag	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000256552.6	-	27	3687	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.F1197F|TRPM1_ENST00000397795.2_Silent_p.F1158F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3589-3591)ttC>ttT		transient receptor potential cation channel, subfamily M, member 1							54	57	56					15																	31318431		2102	4233	6335	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318431G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3540C>T	15.37:g.31318431G>A						TRPM1_ENST00000256552.6_Silent_p.F1180F|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1158F|RP11-348B17.1_ENST00000558755.1_RNA	p.F1197F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3904	-		all_lung(180;1.92e-11)	1158						Silent	SNP	ENST00000256552.6	37	c.3591C>T	CCDS58346.1																																																																																				0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		39	145	0	0	0	1	0	39	145					A	31318431	G	A	31318431	2	1	79	1	0	0	0	0	0	0	0	1	16638	1049	37	1		1	TRPM1	15	31318431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115458	31318431	71212961	15134	25451											
TRPM1	4308	broad.mit.edu	37	chr15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcgaactcatgcagcCtctttagctcctcgtcgcta	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000256552.6	-	27	3674	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3577-3579)aGg>aTg		transient receptor potential cation channel, subfamily M, member 1							53	56	55					15																	31318444		2090	4219	6309	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318444C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3527G>T	15.37:g.31318444C>A	ENSP00000256552:p.Arg1176Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.R1176M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|RP11-348B17.1_ENST00000558755.1_RNA	p.R1193M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3891	-		all_lung(180;1.92e-11)	1154						Missense_Mutation	SNP	ENST00000256552.6	37	c.3578G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082368	0.36758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.12774	2.65;2.65;2.65	5.5	2.09	0.27110	.	0.280157	0.43260	D	0.000597	T	0.08670	0.0215	N	0.25992	0.78	0.20975	N	0.999819	B;B	0.22851	0.076;0.01	B;B	0.21917	0.037;0.011	T	0.23940	-1.0174	10	0.87932	D	0	-29.4723	5.458	0.16602	0.0:0.4423:0.0:0.5577	.	1148;1154	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1154;1193;1176;1154	ENSP00000380897:R1154M;ENSP00000437849:R1193M;ENSP00000256552:R1176M	ENSP00000256552:R1176M	R	-	2	0	TRPM1	29105736	0.276000	0.24211	0.847000	0.33407	0.717000	0.41224	0.641000	0.24720	0.785000	0.33685	-0.194000	0.12790	AGG		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		39	137	1	0	7.04047e-22	1	7.94894e-22	39	137					A	31318444	C	A	31318444	3	1	79	1	0	0	0	0	1	0	0	0	16638	681	24	3	1358	3	TRPM1	15	31318444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	31318444	71212948	15135	25452											
TRPM1	4308	broad.mit.edu	37	chr15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcatccagtagggcatgTagaagatgtttcgggccagt	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000256552.6	-	23	3224	c.3077A>G	c.(3076-3078)tAc>tGc	p.Y1026C	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3127-3129)tAc>tGc		transient receptor potential cation channel, subfamily M, member 1							149	152	151					15																	31323236		2161	4289	6450	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323236T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3077A>G	15.37:g.31323236T>C	ENSP00000256552:p.Tyr1026Cys					TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1026C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|RP11-348B17.1_ENST00000558755.1_RNA	p.Y1043C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	22	3441	-		all_lung(180;1.92e-11)	1004						Missense_Mutation	SNP	ENST00000256552.6	37	c.3128A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448492	0.84101	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98455	-4.94;-4.94;-4.94	6.05	6.05	0.98169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77004	0.987;0.989	D	0.99846	1.1066	10	0.87932	D	0	-26.5266	16.5932	0.84781	0.0:0.0:0.0:1.0	.	998;1004	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1004;1043;1026;1004	ENSP00000380897:Y1004C;ENSP00000437849:Y1043C;ENSP00000256552:Y1026C	ENSP00000256552:Y1026C	Y	-	2	0	TRPM1	29110528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.320000	0.78422	0.528000	0.53228	TAC		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		105	418	0	0	0	1	0	105	418					C	31323236	T	C	31323236	3	2	79	1	0	0	0	0	1	0	0	0	16638	1638	57	4	1824	4	TRPM1	15	31323236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4792	31323236	71208156	15136	25453											
TRPM1	4308	broad.mit.edu	37	chr15	31329913	31329913	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttcaggaggaggcctcaCtgtgtaaaaccagaacttga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000256552.6	-	20	2719		c.e20+1		RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373																																						ENST00000542188.1																			1	Unknown(1)	p.?(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.e19+1		transient receptor potential cation channel, subfamily M, member 1							148	131	137					15																	31329913		1869	4106	5975	SO:0001630	splice_region_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31329913C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2571+1G>T	15.37:g.31329913C>A						TRPM1_ENST00000256552.6_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Splice_Site		NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2936	-		all_lung(180;1.92e-11)							Splice_Site	SNP	ENST00000256552.6	37		CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772569	0.69992	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29117205	1.000000	0.71417	0.976000	0.42696	0.694000	0.40290	7.776000	0.85560	2.420000	0.82092	0.655000	0.94253	.		0.373	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Intron	78	320	1	0	3.62344e-47	1	4.45774e-47	78	320					A	31329913	C	A	31329913	5	1	79	1	0	0	0	0	0	0	1	0	16638	579	20	3	2341	3	TRPM1	15	31329913	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6677	31329913	71201479	15137	25454											
TRPM1	4308	broad.mit.edu	37	chr15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagctcgtggaagggataCtggaaccgactcacggcagg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000256552.6	-	17	2040	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527																																						ENST00000542188.1																			1	Substitution - coding silent(1)	p.Q609Q(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1942-1944)caG>caT		transient receptor potential cation channel, subfamily M, member 1							68	75	73					15																	31334348		2177	4286	6463	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334348C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1893G>T	15.37:g.31334348C>A	ENSP00000256552:p.Gln631His					TRPM1_ENST00000256552.6_Missense_Mutation_p.Q631H|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H	p.Q648H	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2257	-		all_lung(180;1.92e-11)	609						Missense_Mutation	SNP	ENST00000256552.6	37	c.1944G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010980	0.35511	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	2.78	0.32641	.	0.179366	0.50627	D	0.000115	T	0.53916	0.1826	N	0.17474	0.49	0.45464	D	0.998439	B;B	0.14012	0.009;0.005	B;B	0.17433	0.018;0.008	T	0.54840	-0.8233	10	0.72032	D	0.01	-16.7394	11.5534	0.50733	0.0:0.8441:0.0:0.1559	.	603;609	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	609;648;631;609	ENSP00000380897:Q609H;ENSP00000437849:Q648H;ENSP00000256552:Q631H	ENSP00000256552:Q631H	Q	-	3	2	TRPM1	29121640	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.916000	0.28651	1.083000	0.41159	0.655000	0.94253	CAG		0.527	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		10	164	1	0	0.000442599	1	0.000448314	10	164					A	31334348	C	A	31334348	3	1	79	1	0	0	0	0	1	0	0	0	16638	564	20	3	3032	3	TRPM1	15	31334348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4435	31334348	71197044	15138	25455											
TRPM1	4308	broad.mit.edu	37	chr15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggaatctgttgggtagcTctgggtgtgcttggcaacag	15	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000256552.6	-	4	361	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(265-267)Agc>Cgc		transient receptor potential cation channel, subfamily M, member 1							383	365	371					15																	31362299		1945	4150	6095	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362299T>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.214A>C	15.37:g.31362299T>G	ENSP00000256552:p.Ser72Arg					TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S72R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R	p.S89R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	578	-		all_lung(180;1.92e-11)	50						Missense_Mutation	SNP	ENST00000256552.6	37	c.265A>C	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	9.985	1.229159	0.22542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.81415	-1.49;-1.49;-1.49	6.03	3.52	0.40303	.	0.439281	0.20773	U	0.085936	T	0.80199	0.4579	L	0.31926	0.97	0.09310	N	0.999996	D;B	0.56968	0.978;0.177	P;B	0.60609	0.877;0.122	T	0.69217	-0.5203	10	0.52906	T	0.07	-25.2032	8.0341	0.30482	0.0:0.1021:0.3481:0.5498	.	50;50	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	50;89;72;50	ENSP00000380897:S50R;ENSP00000437849:S89R;ENSP00000256552:S72R	ENSP00000256552:S72R	S	-	1	0	TRPM1	29149591	0.893000	0.30496	1.000000	0.80357	0.996000	0.88848	0.322000	0.19576	1.053000	0.40415	0.533000	0.62120	AGC		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		476	2073	0	0	0	1	0	476	2073					G	31362299	T	G	31362299	3	3	79	1	0	0	0	0	1	0	0	0	16638	1551	54	4	4763	4	TRPM1	15	31362299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27951	31362299	71169093	15139	25456											
OTUD7A	161725	broad.mit.edu	37	chr15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtggcatctgttgggaGggacctccaagggcaggtag	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000307050.4	-	8	1141	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	350	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTGTTGGGAGGGACCTCCAA	0.577																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1069-1071)cCt>cAt		OTU domain containing 7A							148	131	137					15																	31793994		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31793994G>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1049C>A	15.37:g.31793994G>T	ENSP00000305926:p.Pro350His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.P350H	p.P357H			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	8	1162	-		all_lung(180;1.6e-09)	350			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1070C>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676297	0.67928	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.84	3.92	0.45320	Ovarian tumour, otubain (2);	0.107611	0.64402	D	0.000004	T	0.50292	0.1607	M	0.77616	2.38	0.43835	D	0.996413	D;D	0.76494	0.998;0.999	P;D	0.65323	0.891;0.934	T	0.52540	-0.8562	10	0.72032	D	0.01	-4.3143	8.354	0.32318	0.2337:0.0:0.7663:0.0	.	357;350	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	350;357	ENSP00000305926:P350H;ENSP00000372358:P357H	ENSP00000305926:P350H	P	-	2	0	OTUD7A	29581286	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.820000	0.69250	1.135000	0.42183	0.655000	0.94253	CCT		0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		98	448	1	0	1.39521e-32	1	1.64848e-32	98	448					T	31793994	G	T	31793994	3	4	79	1	0	0	0	0	1	0	0	0	11360	1000	35	3	1747	3	OTUD7A	15	31793994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431695	31793994	70737398	15140	25457											
OTUD7A	161725	broad.mit.edu	37	chr15	31818563	31818563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacttaccccccgcccgtGccgccattcttgctgaagtg	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000307050.4	-	6	953	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_ENST00000382902.1_Silent_p.G294G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	287	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCGCCCGTGCCGCCATTCT	0.677																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(880-882)ggC>ggT		OTU domain containing 7A							36	37	37					15																	31818563		2202	4300	6502	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31818563G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.861C>T	15.37:g.31818563G>A						OTUD7A_ENST00000307050.4_Silent_p.G287G	p.G294G			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	6	974	-		all_lung(180;1.6e-09)	287			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.882C>T	CCDS10026.1																																																																																				0.677	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		13	61	0	0	0	1	0	13	61					A	31818563	G	A	31818563	2	1	79	1	0	0	0	0	0	0	0	1	11360	1306	46	2		2	OTUD7A	15	31818563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24569	31818563	70712829	15141	25458											
OTUD7A	161725	broad.mit.edu	37	chr15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacagctcgtgcacacagtgGaccaccagttcaggcgacct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000307050.4	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	190	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(568-570)tCc>tAc		OTU domain containing 7A							110	94	99					15																	31822993		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31822993G>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.569C>A	15.37:g.31822993G>T	ENSP00000305926:p.Ser190Tyr					OTUD7A_ENST00000307050.4_Missense_Mutation_p.S190Y	p.S190Y			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	4	661	-		all_lung(180;1.6e-09)	190			Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.569C>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433298	0.25813	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.52;1.51	6.06	5.15	0.70609	.	0.053150	0.85682	D	0.000000	T	0.31104	0.0786	N	0.21142	0.635	0.48185	D	0.999606	D;P	0.55605	0.972;0.952	P;B	0.50440	0.641;0.438	T	0.04440	-1.0951	10	0.40728	T	0.16	-29.3876	15.4188	0.74995	0.0664:0.0:0.9336:0.0	.	190;190	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Y	190	ENSP00000305926:S190Y;ENSP00000372358:S190Y	ENSP00000305926:S190Y	S	-	2	0	OTUD7A	29610285	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.832000	0.92079	1.579000	0.49836	-0.145000	0.13849	TCC		0.527	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		11	220	1	0	2.80697e-09	1	2.95087e-09	11	220					T	31822993	G	T	31822993	3	4	79	1	0	0	0	0	1	0	0	0	11360	1174	41	3	2243	3	OTUD7A	15	31822993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4430	31822993	70708399	15142	25459											
CHRNA7	1139	broad.mit.edu	37	chr15	32460281	32460281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgccgtggcgccgccGcccgccagcaacgggaacct	14	17	0	1	rs201968105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	377					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1129-1131)ccG>ccA		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						21	28	26					15																	32460281		2191	4295	6486	SO:0001819	synonymous_variant	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460281G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1131G>A	15.37:g.32460281G>A						CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	p.P377P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1228	+		all_lung(180;6.35e-11)	377					A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	c.1131G>A	CCDS10027.1																																																																																				0.706	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			62	451	0	0	0	1	0	62	451					A	32460281	G	A	32460281	2	1	79	1	0	0	0	0	0	0	0	1	3397	1074	38	1		1	CHRNA7	15	32460281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637288	32460281	70071111	15143	25460											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaaatattggtgcaaTttcaaagtcaagcatggagt	10	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000361627.3	+	12	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	916					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTGGTGCAATTTCAAAGTCA	0.368																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2746-2748)aTt>aGt		Rho GTPase activating protein 11A							98	99	98					15																	32929721		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929721T>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2747T>G	15.37:g.32929721T>G	ENSP00000355090:p.Ile916Ser					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S	p.I916S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3469	+		all_lung(180;1.3e-11)	916					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2747T>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.295039	0.05532	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10860	2.83	4.55	0.908	0.19326	.	0.936787	0.08882	N	0.879885	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.23442	0.085	B	0.22386	0.039	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.3575	0.21410	0.0:0.3165:0.0:0.6834	.	916	Q6P4F7	RHGBA_HUMAN	S	916;727	ENSP00000355090:I916S	ENSP00000355090:I916S	I	+	2	0	ARHGAP11A	30717013	0.275000	0.24201	0.015000	0.15790	0.020000	0.10135	0.298000	0.19120	0.283000	0.22279	0.482000	0.46254	ATT		0.368	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		74	387	0	0	0	1	0	74	387					G	32929721	T	G	32929721	3	3	79	1	0	0	0	0	1	0	0	0	863	1493	52	4	2816	4	ARHGAP11A	15	32929721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	469440	32929721	69601671	15144	25461											
FMN1	342184	broad.mit.edu	37	chr15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctggagatactcctttgggGactccttgcacaccaccacc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000559047.1	-	14	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y|FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y			Q68DA7	FMN1_HUMAN	formin 1	1291	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCTTTGGGGACTCCTTGCA	0.468																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3202-3204)tCc>tAc		formin 1							132	132	132					15																	33149272		1955	4146	6101	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33149272G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3872C>A	15.37:g.33149272G>T	ENSP00000454047:p.Ser1291Tyr					FMN1_ENST00000559047.1_Missense_Mutation_p.S1291Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y	p.S1068Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	13	3202	-		all_lung(180;1.14e-07)	1291			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3203C>A		.	.	.	.	.	.	.	.	.	.	G	18.88	3.717737	0.68844	.	.	ENSG00000248905	ENST00000334528	T	0.66460	-0.21	4.82	4.82	0.62117	.	0.056948	0.64402	D	0.000001	D	0.83059	0.5172	M	0.85373	2.75	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.86841	0.2017	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1068	Q68DA7-5	.	Y	1068	ENSP00000333950:S1068Y	ENSP00000333950:S1068Y	S	-	2	0	FMN1	30936564	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	TCC		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		34	342	1	0	2.87052e-16	1	3.15093e-16	34	342					T	33149272	G	T	33149272	3	4	79	1	0	0	0	0	1	0	0	0	5974	1174	41	3	407	3	FMN1	15	33149272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219551	33149272	69382120	15145	25462											
FMN1	342184	broad.mit.edu	37	chr15	33260974	33260974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatgggacaactgggctcGatggctggttttcgaggaca	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000559047.1	-	5	2927	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	FMN1_ENST00000561249.1_Silent_p.I878I|FMN1_ENST00000334528.9_Silent_p.I753I|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	976	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACTGGGCTCGATGGCTGGTT	0.507																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2257-2259)atC>atT		formin 1							123	119	120					15																	33260974		1838	4090	5928	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33260974G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2928C>T	15.37:g.33260974G>A						FMN1_ENST00000559047.1_Silent_p.I976I|FMN1_ENST00000561249.1_Silent_p.I878I	p.I753I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2258	-		all_lung(180;1.14e-07)	976			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.2259C>T																																																																																					0.507	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		98	540	0	0	0	1	0	98	540					A	33260974	G	A	33260974	2	1	79	1	0	0	0	0	0	0	0	1	5974	1048	37	1		1	FMN1	15	33260974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111702	33260974	69270418	15146	25463											
FMN1	342184	broad.mit.edu	37	chr15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcttcacaaccccctcGccatctgtgttctagctcgt	5	18	4	0	rs202224266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		16763	0.0		0.001	False		,,,				2504	0.0					ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1663-1665)Cga>Tga		formin 1							245	229	234					15																	33261570		1958	4161	6119	SO:0001587	stop_gained	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261570G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2332C>T	15.37:g.33261570G>A	ENSP00000454047:p.Arg778*					FMN1_ENST00000559047.1_Nonsense_Mutation_p.R778*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*	p.R555*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1662	-		all_lung(180;1.14e-07)	778			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	ENST00000559047.1	37	c.1663C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	FMN1	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		227	959	0	0	0	1	0	227	959					A	33261570	G	A	33261570	4	1	79	1	0	0	0	0	0	1	0	0	5974	1095	38	1	1983	1	FMN1	15	33261570	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	33261570	69269822	15147	25464											
FMN1	342184	broad.mit.edu	37	chr15	33261663	33261663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccggatatgaaatgcccGaagttcaaactgtgcctata	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261663G>A	ENST00000559047.1	-	5	2238	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	FMN1_ENST00000561249.1_Missense_Mutation_p.R649W|FMN1_ENST00000334528.9_Missense_Mutation_p.R524W|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	747	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAAATGCCCGAAGTTCAAAC	0.398																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1570-1572)Cgg>Tgg		formin 1							72	68	69					15																	33261663		1843	4087	5930	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261663G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2239C>T	15.37:g.33261663G>A	ENSP00000454047:p.Arg747Trp					FMN1_ENST00000559047.1_Missense_Mutation_p.R747W|FMN1_ENST00000561249.1_Missense_Mutation_p.R649W	p.R524W	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1569	-		all_lung(180;1.14e-07)	747			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1570C>T		.	.	.	.	.	.	.	.	.	.	G	11.70	1.718269	0.30503	.	.	ENSG00000248905	ENST00000334528	T	0.42513	0.97	4.9	0.279	0.15677	.	0.912362	0.09346	N	0.814886	T	0.38639	0.1048	L	0.43152	1.355	.	.	.	D	0.65815	0.995	P	0.46825	0.528	T	0.46952	-0.9154	9	0.87932	D	0	.	7.7095	0.28669	0.0:0.1784:0.3879:0.4336	.	524	Q68DA7-5	.	W	524	ENSP00000333950:R524W	ENSP00000333950:R524W	R	-	1	2	FMN1	31048955	0.000000	0.05858	0.655000	0.29622	0.884000	0.51177	0.100000	0.15231	-0.082000	0.12640	0.555000	0.69702	CGG		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		24	476	0	0	0	1	0	24	476					A	33261663	G	A	33261663	3	1	79	1	0	0	0	0	1	0	0	0	5974	1057	37	1	2076	1	FMN1	15	33261663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	33261663	69269729	15148	25465											
RYR3	6263	broad.mit.edu	37	chr15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacatgcttgactacatcaaGatcccagacagacaaacttg	6	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	127	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			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)		ACTACATCAAGATCCCAGACA	0.463																																						ENST00000389232.4																			0				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						c.(379-381)aGa>aAa		ryanodine receptor 3							106	101	103					15																	33825537		1976	4163	6139	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33825537G>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.380G>A	15.37:g.33825537G>A	ENSP00000373884:p.Arg127Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	5	450	+		all_lung(180;7.18e-09)	127			MIR 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.380G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588542	0.86851	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	4.73	0.59995	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.72118	2.19	0.48185	D	0.999609	D;P	0.53312	0.959;0.951	D;P	0.65684	0.937;0.76	D	0.98945	1.0792	10	0.07990	T	0.79	.	17.5237	0.87793	0.0:0.0:1.0:0.0	.	127;127	Q15413-2;Q15413	.;RYR3_HUMAN	K	127	ENSP00000373884:R127K;ENSP00000399610:R127K	ENSP00000354735:R127K	R	+	2	0	RYR3	31612829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.442000	0.82660	0.655000	0.94253	AGA		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	54	0	0	0	1	0	6	54					A	33825537	G	A	33825537	3	1	79	1	0	0	0	0	1	0	0	0	13820	942	33	2	398	2	RYR3	15	33825537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563874	33825537	68705855	15149	25466											
RYR3	6263	broad.mit.edu	37	chr15	33855181	33855181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagcacaagacgccaaAacttcccgcctgggacctct	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	372	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			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)		AAGACGCCAAAACTTCCCGCC	0.448																																						ENST00000389232.4																			0				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						c.(1114-1116)aaA>aaG		ryanodine receptor 3							126	125	126					15																	33855181		1872	4105	5977	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855181A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1116A>G	15.37:g.33855181A>G						RYR3_ENST00000415757.3_Silent_p.K372K	p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	11	1186	+		all_lung(180;7.18e-09)	372			MIR 5.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1116A>G	CCDS45210.1																																																																																				0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			83	381	0	0	0	1	0	83	381					G	33855181	A	G	33855181	2	3	79	1	0	0	0	0	0	0	0	1	13820	11	1	4		4	RYR3	15	33855181	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29644	33855181	68676211	15150	25467											
RYR3	6263	broad.mit.edu	37	chr15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttagcggaaacaatcgcAcagctgcccccatcaccctg	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	428					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)			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)		AAACAATCGCACAGCTGCCCC	0.557																																						ENST00000389232.4																			0				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						c.(1282-1284)Aca>Gca		ryanodine receptor 3							58	57	57					15																	33872190		2009	4186	6195	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33872190A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1282A>G	15.37:g.33872190A>G	ENSP00000373884:p.Thr428Ala					RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1352	+		all_lung(180;7.18e-09)	428					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1282A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283132	0.10458	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96427	-4.01;-4.01	5.15	5.15	0.70609	.	0.370359	0.29376	N	0.012324	D	0.88865	0.6553	N	0.17082	0.46	0.28262	N	0.924809	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.75838	-0.3176	10	0.06099	T	0.92	.	7.2164	0.25961	0.778:0.1465:0.0756:0.0	.	428;428	Q15413-2;Q15413	.;RYR3_HUMAN	A	428	ENSP00000373884:T428A;ENSP00000399610:T428A	ENSP00000354735:T428A	T	+	1	0	RYR3	31659482	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.266000	0.43320	2.160000	0.67779	0.533000	0.62120	ACA		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			35	204	0	0	0	1	0	35	204					G	33872190	A	G	33872190	3	3	79	1	0	0	0	0	1	0	0	0	13820	159	6	4	1332	4	RYR3	15	33872190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17009	33872190	68659202	15151	25468											
RYR3	6263	broad.mit.edu	37	chr15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacctcctctacaaattgCtgggtaagtacacatacagt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	524					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)			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)		CTACAAATTGCTGGGTAAGTA	0.458																																						ENST00000389232.4																			0				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						c.(1570-1572)Ctg>Atg		ryanodine receptor 3							106	109	108					15																	33873841		1918	4134	6052	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33873841C>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.1570C>A	15.37:g.33873841C>A	ENSP00000373884:p.Leu524Met					RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	14	1640	+		all_lung(180;7.18e-09)	524					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1570C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128371	0.37533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95918	-3.85;-3.85	5.31	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97576	0.9206	M	0.88105	2.93	0.44221	D	0.99705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.97111	0.9804	10	0.87932	D	0	.	10.0129	0.41997	0.0:0.7247:0.0:0.2753	.	524;524	Q15413-2;Q15413	.;RYR3_HUMAN	M	524	ENSP00000373884:L524M;ENSP00000399610:L524M	ENSP00000354735:L524M	L	+	1	2	RYR3	31661133	0.987000	0.35691	0.990000	0.47175	0.406000	0.30931	1.186000	0.32078	0.626000	0.30322	-0.251000	0.11542	CTG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			66	304	1	0	2.26907e-38	1	2.73382e-38	66	304					A	33873841	C	A	33873841	3	1	79	1	0	0	0	0	1	0	0	0	13820	796	28	3	1624	3	RYR3	15	33873841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1651	33873841	68657551	15152	25469											
RYR3	6263	broad.mit.edu	37	chr15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcctaacagcagagcCcacacatctgcgggtgggct	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	677	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			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)		ACAGCAGAGCCCACACATCTG	0.582																																						ENST00000389232.4																			0				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						c.(2029-2031)cCc>cTc		ryanodine receptor 3							153	159	157					15																	33895431		2008	4166	6174	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895431C>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.2030C>T	15.37:g.33895431C>T	ENSP00000373884:p.Pro677Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2100	+		all_lung(180;7.18e-09)	677			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2030C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168315	0.94768	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062563	0.64402	D	0.000004	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	P;D	0.58268	0.873;0.982	B;P	0.59825	0.382;0.864	T	0.76085	-0.3088	10	0.87932	D	0	.	19.3248	0.94258	0.0:1.0:0.0:0.0	.	677;677	Q15413-2;Q15413	.;RYR3_HUMAN	L	677	ENSP00000373884:P677L;ENSP00000399610:P677L	ENSP00000354735:P677L	P	+	2	0	RYR3	31682723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.796000	0.96246	0.597000	0.82753	CCC		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			32	938	0	0	0	1	0	32	938					T	33895431	C	T	33895431	3	4	79	1	0	0	0	0	1	0	0	0	13820	623	22	2	2100	2	RYR3	15	33895431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21590	33895431	68635961	15153	25470											
RYR3	6263	broad.mit.edu	37	chr15	33926885	33926885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcgggaagctgtgcgCacttttgttggttacgggta	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1042	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			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)		AAGCTGTGCGCACTTTTGTTG	0.463																																						ENST00000389232.4																			0				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						c.(3124-3126)cgC>cgT		ryanodine receptor 3							155	152	153					15																	33926885		1927	4141	6068	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926885C>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.3126C>T	15.37:g.33926885C>T						RYR3_ENST00000415757.3_Silent_p.R1042R	p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3196	+		all_lung(180;7.18e-09)	1042			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3126C>T	CCDS45210.1																																																																																				0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			98	369	0	0	0	1	0	98	369					T	33926885	C	T	33926885	2	4	79	1	0	0	0	0	0	0	0	1	13820	697	25	2		2	RYR3	15	33926885	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31454	33926885	68604507	15154	25471											
RYR3	6263	broad.mit.edu	37	chr15	33926918	33926918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtataacattgagccAtcagaccaagaactaggtaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1053	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			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)		ACATTGAGCCATCAGACCAAG	0.458																																						ENST00000389232.4																			0				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						c.(3157-3159)ccA>ccG		ryanodine receptor 3							161	154	157					15																	33926918		1917	4134	6051	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926918A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3159A>G	15.37:g.33926918A>G						RYR3_ENST00000415757.3_Silent_p.P1053P	p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3229	+		all_lung(180;7.18e-09)	1053			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3159A>G	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			38	424	0	0	0	1	0	38	424					G	33926918	A	G	33926918	2	3	79	1	0	0	0	0	0	0	0	1	13820	204	8	4		4	RYR3	15	33926918	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33	33926918	68604474	15155	25472											
RYR3	6263	broad.mit.edu	37	chr15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtagagcgatcttatgCagtgagatctggaaagtggt	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1081	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.			A -> P (in Ref. 1; BAA23795). {ECO:0000305}.	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)			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)		CGATCTTATGCAGTGAGATCT	0.527																																						ENST00000389232.4																			0				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						c.(3241-3243)gCa>gTa		ryanodine receptor 3							72	73	73					15																	33927881		2052	4232	6284	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927881C>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.3242C>T	15.37:g.33927881C>T	ENSP00000373884:p.Ala1081Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3312	+		all_lung(180;7.18e-09)	1081	A -> P (in Ref. 1; BAA23795).		4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3242C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224308	0.95139	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74209	-0.82;-0.82	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.85416	0.1140	10	0.37606	T	0.19	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1081;1081	Q15413-2;Q15413	.;RYR3_HUMAN	V	1081	ENSP00000373884:A1081V;ENSP00000399610:A1081V	ENSP00000354735:A1081V	A	+	2	0	RYR3	31715173	1.000000	0.71417	0.836000	0.33094	0.901000	0.52897	7.559000	0.82265	2.760000	0.94817	0.655000	0.94253	GCA		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	143	0	0	0	1	0	27	143					T	33927881	C	T	33927881	3	4	79	1	0	0	0	0	1	0	0	0	13820	710	25	2	3344	2	RYR3	15	33927881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	963	33927881	68603511	15156	25473											
RYR3	6263	broad.mit.edu	37	chr15	33936603	33936603	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagttttataccatgtgCggtctccaagagggctttga	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33936603C>A	ENST00000389232.4	+	28	3718	c.3648C>A	c.(3646-3648)tgC>tgA	p.C1216*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1216	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.C1216C(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)		ATACCATGTGCGGTCTCCAAG	0.522																																						ENST00000389232.4																			1	Substitution - coding silent(1)	p.C1216C(1)	large_intestine(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						c.(3646-3648)tgC>tgA		ryanodine receptor 3							76	76	76					15																	33936603		1936	4144	6080	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33936603C>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.3648C>A	15.37:g.33936603C>A	ENSP00000373884:p.Cys1216*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	28	3718	+		all_lung(180;7.18e-09)	1216			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.3648C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	40	8.482325	0.98832	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.13	-9.61	0.00550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0701	0.97718	0.0:0.1782:0.0:0.8218	.	.	.	.	X	1216	.	ENSP00000354735:C1216X	C	+	3	2	RYR3	31723895	0.088000	0.21588	0.406000	0.26421	0.938000	0.57974	-0.638000	0.05452	-1.975000	0.00997	-1.648000	0.00760	TGC		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	96	1	0	0.150653	1	0.150899	4	96					A	33936603	C	A	33936603	4	1	79	1	0	0	0	0	0	1	0	0	13820	776	27	3	3758	3	RYR3	15	33936603	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8722	33936603	68594789	15157	25474											
RYR3	6263	broad.mit.edu	37	chr15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccattgacaacaagtacCtccccggcctccttcgatct	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1598	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)			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)		CAACAAGTACCTCCCCGGCCT	0.582																																						ENST00000389232.4																			0				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						c.(4792-4794)Ctc>Ttc		ryanodine receptor 3							86	82	83					15																	33954523		2018	4189	6207	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954523C>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.4792C>T	15.37:g.33954523C>T	ENSP00000373884:p.Leu1598Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	4862	+		all_lung(180;7.18e-09)	1598			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4792C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567655	0.65651	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.76060	-0.99;-0.99	4.89	3.96	0.45880	.	0.000000	0.64402	D	0.000005	D	0.84633	0.5515	M	0.83012	2.62	0.49213	D	0.999769	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.85319	0.1083	10	0.87932	D	0	.	8.4807	0.33040	0.0:0.7771:0.0:0.2229	.	1598;1598	Q15413-2;Q15413	.;RYR3_HUMAN	F	1598	ENSP00000373884:L1598F;ENSP00000399610:L1598F	ENSP00000354735:L1598F	L	+	1	0	RYR3	31741815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.494000	0.35616	1.270000	0.44297	0.650000	0.86243	CTC		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	78	0	0	0	1	0	15	78					T	33954523	C	T	33954523	3	4	79	1	0	0	0	0	1	0	0	0	13820	681	24	2	4930	2	RYR3	15	33954523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17920	33954523	68576869	15158	25475											
RYR3	6263	broad.mit.edu	37	chr15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggcccacatccgagaccCtgtaggggggtctgtggagt	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1713	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)			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)		ATCCGAGACCCTGTAGGGGGG	0.562																																						ENST00000389232.4																			0				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						c.(5137-5139)cCt>cAt		ryanodine receptor 3							74	80	78					15																	33954869		2081	4238	6319	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954869C>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.5138C>A	15.37:g.33954869C>A	ENSP00000373884:p.Pro1713His					RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5208	+		all_lung(180;7.18e-09)	1713			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5138C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351827	0.82132	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74737	-0.87;-0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	D	0.88336	0.2971	10	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1713;1713	Q15413-2;Q15413	.;RYR3_HUMAN	H	1713	ENSP00000373884:P1713H;ENSP00000399610:P1713H	ENSP00000354735:P1713H	P	+	2	0	RYR3	31742161	1.000000	0.71417	0.970000	0.41538	0.818000	0.46254	7.411000	0.80078	2.826000	0.97356	0.655000	0.94253	CCT		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			74	280	1	0	3.1711e-36	1	3.79393e-36	74	280					A	33954869	C	A	33954869	3	1	79	1	0	0	0	0	1	0	0	0	13820	681	24	3	5276	3	RYR3	15	33954869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346	33954869	68576523	15159	25476											
RYR3	6263	broad.mit.edu	37	chr15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggaagaccaaggagTtccgctcacccccacaggag	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1866	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)			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)		GACCAAGGAGTTCCGCTCACC	0.552																																						ENST00000389232.4																			0				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						c.(5596-5598)Ttc>Ctc		ryanodine receptor 3							30	30	30					15																	33955915		1986	4147	6133	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955915T>C		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.5596T>C	15.37:g.33955915T>C	ENSP00000373884:p.Phe1866Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	36	5666	+		all_lung(180;7.18e-09)	1866			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5596T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300383	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72942	-0.7;-0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.84511	2.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.99;0.995	D	0.87923	0.2705	10	0.87932	D	0	.	15.3557	0.74425	0.0:0.0:0.0:1.0	.	1866;1866	Q15413-2;Q15413	.;RYR3_HUMAN	L	1866	ENSP00000373884:F1866L;ENSP00000399610:F1866L	ENSP00000354735:F1866L	F	+	1	0	RYR3	31743207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.820000	0.86633	2.203000	0.70933	0.459000	0.35465	TTC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	68	0	0	0	1	0	7	68					C	33955915	T	C	33955915	3	2	79	1	0	0	0	0	1	0	0	0	13820	1725	60	4	5738	4	RYR3	15	33955915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	33955915	68575477	15160	25477											
RYR3	6263	broad.mit.edu	37	chr15	33988633	33988633	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccctgggccaaatccgCtccctcctcagtgtcaggat	10	16	2	0	rs200936684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	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)			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)		GCCAAATCCGCTCCCTCCTCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4																			0				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						c.(6073-6075)cgC>cgA		ryanodine receptor 3							84	90	88					15																	33988633		2118	4241	6359	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988633C>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.6075C>A	15.37:g.33988633C>A						RYR3_ENST00000415757.3_Silent_p.R2025R	p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6145	+		all_lung(180;7.18e-09)	2025			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6075C>A	CCDS45210.1																																																																																				0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			49	236	1	0	1.23103e-26	1	1.41986e-26	49	236					A	33988633	C	A	33988633	2	1	79	1	0	0	0	0	0	0	0	1	13820	784	28	3		3	RYR3	15	33988633	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32718	33988633	68542759	15161	25478											
RYR3	6263	broad.mit.edu	37	chr15	34030740	34030740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctgtggaagaagagctGcacctaacggagaagctttt	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2535	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)			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)		AAGAAGAGCTGCACCTAACGG	0.498											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389232.4																			0				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						c.(7603-7605)ctG>ctA		ryanodine receptor 3							107	116	113					15																	34030740		1928	4122	6050	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34030740G>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.7605G>A	15.37:g.34030740G>A			OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	RYR3_ENST00000415757.3_Silent_p.L2535L	p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	50	7675	+		all_lung(180;7.18e-09)	2535			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.7605G>A	CCDS45210.1																																																																																				0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			49	233	0	0	0	1	0	49	233					A	34030740	G	A	34030740	2	1	79	1	0	0	0	0	0	0	0	1	13820	1306	46	2		2	RYR3	15	34030740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42107	34030740	68500652	15162	25479											
RYR3	6263	broad.mit.edu	37	chr15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgggaaaatgagaagcttCgaagtgtgtcccaggccaac	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	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)			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)		TGAGAAGCTTCGAAGTGTGTC	0.572																																						ENST00000389232.4																			0				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						c.(8113-8115)Cga>Tga		ryanodine receptor 3							65	70	68					15																	34040438		1954	4150	6104	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040438C>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.8113C>T	15.37:g.34040438C>T	ENSP00000373884:p.Arg2705*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8183	+		all_lung(180;7.18e-09)	2705			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8113C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.492308	0.99864	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	.	.	.	X	2705	.	ENSP00000354735:R2705X	R	+	1	2	RYR3	31827730	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	4.110000	0.57831	2.679000	0.91253	0.655000	0.94253	CGA		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	170	0	0	0	1	0	29	170					T	34040438	C	T	34040438	4	4	79	1	0	0	0	0	0	1	0	0	13820	876	31	1	8327	1	RYR3	15	34040438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9698	34040438	68490954	15163	25480											
RYR3	6263	broad.mit.edu	37	chr15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctactggtgggagcgggGtcctgagaacctgcccccca	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					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)			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)		TGGGAGCGGGGTCCTGAGAAC	0.572																																						ENST00000389232.4																			0				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						c.(9445-9447)gGt>gTt		ryanodine receptor 3							151	169	163					15																	34078040		2159	4268	6427	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078040G>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.9446G>T	15.37:g.34078040G>T	ENSP00000373884:p.Gly3149Val					RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9516	+		all_lung(180;7.18e-09)	3149					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9446G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928608	0.92389	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85902	0.1435	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	V	3149	ENSP00000373884:G3149V;ENSP00000399610:G3149V	ENSP00000354735:G3149V	G	+	2	0	RYR3	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			166	787	1	0	1.56208e-101	1	2.00941e-101	166	787					T	34078040	G	T	34078040	3	4	79	1	0	0	0	0	1	0	0	0	13820	1261	44	3	9708	3	RYR3	15	34078040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37602	34078040	68453352	15164	25481											
RYR3	6263	broad.mit.edu	37	chr15	34137128	34137128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggaattcctttaatgaCgaggaagaggaagaagcgat	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4454					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)			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)		CCTTTAATGACGAGGAAGAGG	0.458																																						ENST00000389232.4																			0				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						c.(13360-13362)gaC>gaT		ryanodine receptor 3							130	121	124					15																	34137128		1933	4133	6066	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137128C>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.13362C>T	15.37:g.34137128C>T						RYR3_ENST00000415757.3_Silent_p.D4449D	p.D4454D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13432	+		all_lung(180;7.18e-09)	4454					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13362C>T	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			43	172	0	0	0	1	0	43	172					T	34137128	C	T	34137128	2	4	79	1	0	0	0	0	0	0	0	1	13820	535	19	1		1	RYR3	15	34137128	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59088	34137128	68394264	15165	25482											
RYR3	6263	broad.mit.edu	37	chr15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggaagaagcgatggtattCtttgtccttcaggagagcac	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4463					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)			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)		CGATGGTATTCTTTGTCCTTC	0.488																																						ENST00000389232.4																			0				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						c.(13387-13389)ttC>ttA		ryanodine receptor 3							153	145	147					15																	34137155		1969	4156	6125	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137155C>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.13389C>A	15.37:g.34137155C>A	ENSP00000373884:p.Phe4463Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	p.F4463L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13459	+		all_lung(180;7.18e-09)	4463					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13389C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894511	0.33442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92858	-3.12	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.339606	0.31495	N	0.007552	D	0.82870	0.5131	N	0.14661	0.345	0.37342	D	0.910447	B;B	0.23249	0.082;0.024	B;B	0.29524	0.058;0.103	T	0.77027	-0.2740	10	0.11182	T	0.66	.	9.4709	0.38842	0.0:0.8415:0.0:0.1585	.	4458;4463	Q15413-2;Q15413	.;RYR3_HUMAN	L	4463;4459	ENSP00000373884:F4463L	ENSP00000354735:F4459L	F	+	3	2	RYR3	31924447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.828000	0.27435	2.884000	0.98904	0.655000	0.94253	TTC		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			62	248	1	0	3.37043e-27	1	3.8985e-27	62	248					A	34137155	C	A	34137155	3	1	79	1	0	0	0	0	1	0	0	0	13820	912	32	3	13759	3	RYR3	15	34137155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	34137155	68394237	15166	25483											
CHRM5	1133	broad.mit.edu	37	chr15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcagcttagcctgtgCagatctcatcattggaatct	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	75					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTAGCCTGTGCAGATCTCATC	0.493																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(223-225)gCa>gTa		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						142	113	123					15																	34355142		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355142C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.224C>T	15.37:g.34355142C>T	ENSP00000372750:p.Ala75Val					CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	894	+		all_lung(180;1.76e-08)	75					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.224C>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864736	0.91511	.	.	ENSG00000184984	ENST00000383263	T	0.79454	-1.27	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91248	0.5027	10	0.87932	D	0	-11.1248	19.8946	0.96949	0.0:1.0:0.0:0.0	.	75	P08912	ACM5_HUMAN	V	75	ENSP00000372750:A75V	ENSP00000372750:A75V	A	+	2	0	CHRM5	32142434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GCA		0.493	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			41	205	0	0	0	1	0	41	205					T	34355142	C	T	34355142	3	4	79	1	0	0	0	0	1	0	0	0	3389	710	25	2	226	2	CHRM5	15	34355142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217987	34355142	68176250	15167	25484											
CHRM5	1133	broad.mit.edu	37	chr15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccttctacatccctgtttCtgtcatgaccatcctctact	4	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	207					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCCCTGTTTCTGTCATGACC	0.532																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(619-621)tCt>tAt		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						251	261	257					15																	34355538		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355538C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.620C>A	15.37:g.34355538C>A	ENSP00000372750:p.Ser207Tyr					CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1290	+		all_lung(180;1.76e-08)	207					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.620C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948850	0.73787	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.130454	0.53938	D	0.000044	T	0.68668	0.3026	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.72924	-0.4144	10	0.87932	D	0	-14.5017	19.1883	0.93653	0.0:1.0:0.0:0.0	.	207	P08912	ACM5_HUMAN	Y	207	ENSP00000372750:S207Y	ENSP00000372750:S207Y	S	+	2	0	CHRM5	32142830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.764000	0.94973	0.650000	0.86243	TCT		0.532	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			263	1149	1	0	1.24967e-88	1	1.60295e-88	263	1149					A	34355538	C	A	34355538	3	1	79	1	0	0	0	0	1	0	0	0	3389	913	32	3	622	3	CHRM5	15	34355538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	34355538	68175854	15168	25485											
CHRM5	1133	broad.mit.edu	37	chr15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgggaaaggaaccaGgcctcctggtcatcctcccg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	268					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAAGGAACCAGGCCTCCTGGT	0.612																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(802-804)caG>caT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						52	52	52					15																	34355722		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355722G>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.804G>T	15.37:g.34355722G>T	ENSP00000372750:p.Gln268His					CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1474	+		all_lung(180;1.76e-08)	268					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.804G>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195375	0.09599	.	.	ENSG00000184984	ENST00000383263	T	0.61980	0.06	5.42	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.538533	0.19932	N	0.102821	T	0.55893	0.1949	M	0.65498	2.005	0.42048	D	0.991109	B	0.10296	0.003	B	0.12156	0.007	T	0.51092	-0.8749	10	0.54805	T	0.06	-2.3311	7.9424	0.29965	0.1768:0.1361:0.6871:0.0	.	268	P08912	ACM5_HUMAN	H	268	ENSP00000372750:Q268H	ENSP00000372750:Q268H	Q	+	3	2	CHRM5	32143014	1.000000	0.71417	0.663000	0.29738	0.146000	0.21551	0.908000	0.28545	0.051000	0.15978	0.650000	0.86243	CAG		0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			81	370	1	0	1.25089e-41	1	1.52034e-41	81	370					T	34355722	G	T	34355722	3	4	79	1	0	0	0	0	1	0	0	0	3389	991	35	3	806	3	CHRM5	15	34355722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	34355722	68175670	15169	25486											
C15orf24	56851	broad.mit.edu	37	chr15	34380269	34380269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgtctcatgtcaggAtcacttgtgttgaccacttt	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34380269A>G	ENST00000256545.4	-	4	669	c.561T>C	c.(559-561)gaT>gaC	p.D187D		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	187						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCATGTCAGGATCACTTGTGT	0.388																																						ENST00000256545.4																			0											c.(559-561)gaT>gaC		ER membrane protein complex subunit 7							82	77	79					15																	34380269		2201	4298	6499	SO:0001819	synonymous_variant	56851							g.chr15:34380269A>G	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.561T>C	15.37:g.34380269A>G							p.D187D	NM_020154.2	NP_064539.1					4	669	-								B2RC00|Q96ED5	Silent	SNP	ENST00000256545.4	37	c.561T>C	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.889|8.889	0.953593|0.953593	0.18431|0.18431	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000528949|ENST00000527822	.|.	.|.	.|.	5.54|5.54	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.57533|0.57533	0.2060|0.2060	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49123|0.49123	-0.8972|-0.8972	4|4	.|.	.|.	.|.	-15.6203|-15.6203	8.7488|8.7488	0.34602|0.34602	0.7228:0.0:0.2772:0.0|0.7228:0.0:0.2772:0.0	.|.	.|.	.|.	.|.	T|P	123|137	.|.	.|.	I|S	-|-	2|1	0|0	C15orf24|C15orf24	32167561|32167561	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.850000|0.850000	0.27737|0.27737	0.161000|0.161000	0.19458|0.19458	0.528000|0.528000	0.53228|0.53228	ATC|TCC		0.388	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		5	92	0	0	0	1	0	5	92					G	34380269	A	G	34380269	2	3	79	1	0	0	0	0	0	0	0	1	1791	330	12	4		4	C15orf24	15	34380269	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24547	34380269	68151123	15170	25487											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		13	1051						13	1051	---	---	---	---	-	34393993	AGC	-	34393991	7	5	79	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-IB-7651-01A-11D-2154-08	13722	34393991	68137401	15171	25488											
PGBD4	161779	broad.mit.edu	37	chr15	34394945	34394945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcaagtgactcagggcgCtccatgaaatggtcagctcg	11	11	3	2	rs374986308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	71										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTCAGGGCGCTCCATGAAAT	0.458																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(211-213)cgC>cgA		piggyBac transposable element derived 4							76	70	72					15																	34394945		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34394945C>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.213C>A	15.37:g.34394945C>A							p.R71R	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	672	+		all_lung(180;1.76e-08)	71					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.213C>A	CCDS10033.1																																																																																				0.458	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			20	272	1	0	2.39187e-15	1	2.61288e-15	20	272					A	34394945	C	A	34394945	2	1	79	1	0	0	0	0	0	0	0	1	11825	784	28	3		3	PGBD4	15	34394945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954	34394945	68136447	15172	25489											
PGBD4	161779	broad.mit.edu	37	chr15	34395249	34395249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattgtgcagaaacctgagCtggagatgttttggtcaaca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GAAACCTGAGCTGGAGATGTT	0.398																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(517-519)Ctg>Ttg		piggyBac transposable element derived 4							104	101	102					15																	34395249		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395249C>T	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.517C>T	15.37:g.34395249C>T							p.L173L	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	976	+		all_lung(180;1.76e-08)	173					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.517C>T	CCDS10033.1																																																																																				0.398	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			14	413	0	0	0	1	0	14	413					T	34395249	C	T	34395249	2	4	79	1	0	0	0	0	0	0	0	1	11825	796	28	2		2	PGBD4	15	34395249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	34395249	68136143	15173	25490											
PGBD4	161779	broad.mit.edu	37	chr15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctatgaagcagtacctcCcgacaaaacgagtacgattt	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCAGTACCTCCCGACAAAACG	0.418																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(799-801)Ccg>Tcg		piggyBac transposable element derived 4							70	60	63					15																	34395531		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34395531C>T	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.799C>T	15.37:g.34395531C>T	ENSP00000380872:p.Pro267Ser						p.P267S	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1258	+		all_lung(180;1.76e-08)	267					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.799C>T	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.807889	0.31961	.	.	ENSG00000182405	ENST00000397766	T	0.21543	2.0	0.801	-0.709	0.11237	.	1.950110	0.04017	N	0.299119	T	0.40839	0.1133	M	0.64997	1.995	0.22787	N	0.99874	D	0.76494	0.999	D	0.73708	0.981	T	0.24333	-1.0163	10	0.59425	D	0.04	.	6.0789	0.19931	0.0:0.6757:0.3243:0.0	.	267	Q96DM1	PGBD4_HUMAN	S	267	ENSP00000380872:P267S	ENSP00000380872:P267S	P	+	1	0	PGBD4	32182823	0.678000	0.27586	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.187000	0.10516	0.299000	0.19835	CCG		0.418	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			50	231	0	0	0	1	0	50	231					T	34395531	C	T	34395531	3	4	79	1	0	0	0	0	1	0	0	0	11825	623	22	2	801	2	PGBD4	15	34395531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	34395531	68135861	15174	25491											
PGBD4	161779	broad.mit.edu	37	chr15	34395759	34395759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgcttttcagagaaTtacatcaaaataggactgat	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	343										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTCAGAGAATTACATCAAAA	0.403																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1027-1029)Tta>Cta		piggyBac transposable element derived 4							88	85	86					15																	34395759		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395759T>C	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1027T>C	15.37:g.34395759T>C							p.L343L	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1486	+		all_lung(180;1.76e-08)	343					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.1027T>C	CCDS10033.1																																																																																				0.403	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			74	315	0	0	0	1	0	74	315					C	34395759	T	C	34395759	2	2	79	1	0	0	0	0	0	0	0	1	11825	1490	52	4		4	PGBD4	15	34395759	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228	34395759	68135633	15175	25492											
C15orf29	79768	broad.mit.edu	37	chr15	34440855	34440855	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacaaataagctacaagttCacttatacttctctttctcc	2	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34440855C>T	ENST00000256544.3	-	5	677	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	179						nucleolus (GO:0005730)											GCTACAAGTTCACTTATACTT	0.373																																						ENST00000256544.3																			0											c.(535-537)Gaa>Aaa		katanin p80 subunit B-like 1							113	87	95					15																	34440855		2201	4298	6499	SO:0001583	missense	79768							g.chr15:34440855C>T	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 29"	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.535G>A	15.37:g.34440855C>T	ENSP00000256544:p.Glu179Lys						p.E179K	NM_024713.2	NP_078989.1					5	677	-								A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.535G>A	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490389	0.96339	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.67090	-0.5758	9	0.08837	T	0.75	.	19.4495	0.94861	0.0:1.0:0.0:0.0	.	179	Q9H079	CO029_HUMAN	K	179;83	.	ENSP00000256544:E179K	E	-	1	0	C15orf29	32228147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.659000	0.74412	2.608000	0.88229	0.585000	0.79938	GAA		0.373	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		29	174	0	0	0	1	0	29	174					T	34440855	C	T	34440855	3	4	79	1	0	0	0	0	1	0	0	0	1794	835	29	2	403	2	C15orf29	15	34440855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45096	34440855	68090537	15176	25493											
TMEM85	51234	broad.mit.edu	37	chr15	34520760	34520760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttacctacacatgcatcGgattggttagccttcattga	8	10	1	1	rs375492262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34520760G>A	ENST00000267750.4	+	4	602	c.486G>A	c.(484-486)tcG>tcA	p.S162S	EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	162					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S162S(1)									CACATGCATCGGATTGGTTAG	0.448																																						ENST00000267750.4																			1	Substitution - coding silent(1)	p.S162S(1)	large_intestine(1)								c.(484-486)tcG>tcA		ER membrane protein complex subunit 4		G		0,4402		0,0,2201	221	199	206		486	3.3	1	15		206	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TMEM85	NM_016454.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		162/184	34520760	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	51234							g.chr15:34520760G>A	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.486G>A	15.37:g.34520760G>A						EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron	p.S162S	NM_016454.2	NP_057538.1					4	602	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Silent	SNP	ENST00000267750.4	37	c.486G>A	CCDS10035.1																																																																																				0.448	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		154	663	0	0	0	1	0	154	663					A	34520760	G	A	34520760	2	1	79	1	0	0	0	0	0	0	0	1	16259	1103	39	1		1	TMEM85	15	34520760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79905	34520760	68010632	15177	25494											
SLC12A6	9990	broad.mit.edu	37	chr15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctactgtgaagatccGtatgctgcactttcgccaca	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	942					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2824-2826)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						283	217	240					15																	34529730		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529730G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2824C>T	15.37:g.34529730G>A	ENSP00000346112:p.Arg942Trp					SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W	p.R942W			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3316	-		all_lung(180;2.78e-08)	942					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2824C>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.95470	3.675	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;0.991;0.998	D	0.99204	1.0874	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	927;942;891;754	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	891;927;933;883;883;754	ENSP00000290209:R891W;ENSP00000380819:R927W;ENSP00000380814:R883W;ENSP00000387725:R883W;ENSP00000390199:R754W	ENSP00000290209:R891W	R	-	1	2	SLC12A6	32317022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.662000	0.90505	0.563000	0.77884	CGG		0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		76	325	0	0	0	1	0	76	325					A	34529730	G	A	34529730	3	1	79	1	0	0	0	0	1	0	0	0	14437	1144	40	1	648	1	SLC12A6	15	34529730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8970	34529730	68001662	15178	25495											
SLC12A6	9990	broad.mit.edu	37	chr15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaatgccctctctcagCttggcggccaccaccagctg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	834					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2500-2502)aaG>aaT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						181	169	173					15																	34531296		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531296C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2502G>T	15.37:g.34531296C>A	ENSP00000346112:p.Lys834Asn					SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N	p.K834N			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	2994	-		all_lung(180;2.78e-08)	834					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2502G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261117	0.05791	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.97	-1.61	0.08399	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	N	0.01729	-0.75	0.48395	D	0.999641	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12156	0.001;0.007;0.003;0.002	T	0.66324	-0.5952	10	0.02654	T	1	.	10.0645	0.42295	0.0:0.41:0.0:0.59	.	819;834;783;646	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	783;819;825;775;775;646	ENSP00000290209:K783N;ENSP00000380819:K819N;ENSP00000380814:K775N;ENSP00000387725:K775N;ENSP00000390199:K646N	ENSP00000290209:K783N	K	-	3	2	SLC12A6	32318588	0.337000	0.24766	0.989000	0.46669	0.988000	0.76386	-0.131000	0.10482	-0.133000	0.11537	-0.252000	0.11476	AAG		0.557	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		198	986	1	0	5.13203e-58	1	6.43216e-58	198	986					A	34531296	C	A	34531296	3	1	79	1	0	0	0	0	1	0	0	0	14437	796	28	3	978	3	SLC12A6	15	34531296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566	34531296	68000096	15179	25496											
SLC12A6	9990	broad.mit.edu	37	chr15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgcttgacatgtaagTcttcatctagtttcagtaat	9	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	768					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2302-2304)gAc>gGc		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						96	77	83					15																	34532995		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34532995T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2303A>G	15.37:g.34532995T>C	ENSP00000346112:p.Asp768Gly					SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G	p.D768G			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	19	2795	-		all_lung(180;2.78e-08)	768					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2303A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298737	0.60195	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P	0.42584	0.367;0.76;0.784;0.588	B;B;B;B	0.44224	0.059;0.416;0.444;0.206	D	0.93407	0.6765	10	0.66056	D	0.02	.	13.793	0.63152	0.0:0.0:0.0:1.0	.	753;768;717;580	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	717;753;759;709;709;580	ENSP00000290209:D717G;ENSP00000380819:D753G;ENSP00000380814:D709G;ENSP00000387725:D709G;ENSP00000390199:D580G	ENSP00000290209:D717G	D	-	2	0	SLC12A6	32320287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.086000	0.62901	0.482000	0.46254	GAC		0.488	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		35	138	0	0	0	1	0	35	138					C	34532995	T	C	34532995	3	2	79	1	0	0	0	0	1	0	0	0	14437	1667	58	4	1181	4	SLC12A6	15	34532995	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1699	34532995	67998397	15180	25497											
SLC12A6	9990	broad.mit.edu	37	chr15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctgtgccgtagacaCgcatgttatttagcatggct	11	8	0	2	rs369334993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(955-957)cGt>cAt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142	124	130		779,779,929,911,803,956	5.1	1	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546711C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	15.37:g.34546711C>T	ENSP00000346112:p.Arg319His					SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H	p.R319H			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1448	-		all_lung(180;2.78e-08)	319					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.956G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT		0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		49	200	0	0	0	1	0	49	200					T	34546711	C	T	34546711	3	4	79	1	0	0	0	0	1	0	0	0	14437	536	19	1	2568	1	SLC12A6	15	34546711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13716	34546711	67984681	15181	25498											
C15orf55	256646	broad.mit.edu	37	chr15	34640500	34640500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactcagactgccctcaattCgactgccccgggcactccct	7	18	2	1	rs199644358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640500C>T	ENST00000333756.4	+	2	502	c.347C>T	c.(346-348)tCg>tTg	p.S116L	NUTM1_ENST00000537011.1_Missense_Mutation_p.S144L|NUTM1_ENST00000438749.3_Missense_Mutation_p.S134L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	116	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCTCAATTCGACTGCCCCG	0.542																																						ENST00000537011.1																			0											c.(430-432)tCg>tTg		NUT midline carcinoma, family member 1							57	54	55					15																	34640500		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640500C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.347C>T	15.37:g.34640500C>T	ENSP00000329448:p.Ser116Leu					NUTM1_ENST00000333756.4_Missense_Mutation_p.S116L|NUTM1_ENST00000438749.3_Missense_Mutation_p.S134L	p.S144L							3	813	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.431C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648370	0.29336	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.21932	1.98;1.98;1.98	5.69	4.78	0.61160	Nuclear Testis  protein, N-terminal (1);	0.233256	0.31221	N	0.008030	T	0.10551	0.0258	N	0.08118	0	0.22081	N	0.999373	B;B;B	0.31227	0.223;0.314;0.223	B;B;B	0.22753	0.041;0.024;0.028	T	0.18085	-1.0348	10	0.35671	T	0.21	.	12.7825	0.57485	0.0:0.1677:0.8323:0.0	.	134;144;116	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	144;134;116;116	ENSP00000444896:S144L;ENSP00000407031:S134L;ENSP00000329448:S116L	ENSP00000329448:S116L	S	+	2	0	C15orf55	32427792	1.000000	0.71417	0.392000	0.26245	0.480000	0.33159	3.191000	0.50981	1.414000	0.47017	-0.147000	0.13772	TCG		0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		54	275	0	0	0	1	0	54	275					T	34640500	C	T	34640500	3	4	79	1	0	0	0	0	1	0	0	0	1808	893	31	1	353	1	C15orf55	15	34640500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93789	34640500	67890892	15182	25499											
C15orf55	256646	broad.mit.edu	37	chr15	34640559	34640559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctccatttgtgacaGcatctaatgtgaagaccatt	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640559G>T	ENST00000333756.4	+	2	561	c.406G>T	c.(406-408)Gca>Tca	p.A136S	NUTM1_ENST00000537011.1_Missense_Mutation_p.A164S|NUTM1_ENST00000438749.3_Missense_Mutation_p.A154S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	136	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATTTGTGACAGCATCTAATGT	0.557																																						ENST00000537011.1																			0											c.(490-492)Gca>Tca		NUT midline carcinoma, family member 1							69	59	62					15																	34640559		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640559G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.406G>T	15.37:g.34640559G>T	ENSP00000329448:p.Ala136Ser					NUTM1_ENST00000333756.4_Missense_Mutation_p.A136S|NUTM1_ENST00000438749.3_Missense_Mutation_p.A154S	p.A164S							3	872	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.490G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799968	0.31869	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	0.226	0.15353	Nuclear Testis  protein, N-terminal (1);	0.456783	0.20699	N	0.087312	T	0.36248	0.0960	M	0.70595	2.14	0.09310	N	1	D;D;P	0.58970	0.984;0.98;0.955	P;P;P	0.53006	0.715;0.592;0.666	T	0.15464	-1.0436	10	0.39692	T	0.17	.	4.5545	0.12130	0.2598:0.3088:0.4314:0.0	.	154;164;136	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	164;154;136;136	ENSP00000444896:A164S;ENSP00000407031:A154S;ENSP00000329448:A136S	ENSP00000329448:A136S	A	+	1	0	C15orf55	32427851	0.005000	0.15991	0.001000	0.08648	0.100000	0.18952	0.322000	0.19576	0.057000	0.16193	0.655000	0.94253	GCA		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		34	212	1	0	1.04352e-10	1	1.10821e-10	34	212					T	34640559	G	T	34640559	3	4	79	1	0	0	0	0	1	0	0	0	1808	971	34	3	412	3	C15orf55	15	34640559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	34640559	67890833	15183	25500											
C15orf55	256646	broad.mit.edu	37	chr15	34648046	34648046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggtgtggagaggagaGggtctgggaaggttataaac	18	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34648046G>A	ENST00000333756.4	+	7	1908	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	NUTM1_ENST00000537011.1_Missense_Mutation_p.G613R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G603R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGAGAGGAGAGGGTCTGGGAA	0.597																																						ENST00000537011.1																			0											c.(1837-1839)Ggg>Agg		NUT midline carcinoma, family member 1							27	30	29					15																	34648046		2200	4292	6492	SO:0001583	missense	256646							g.chr15:34648046G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1753G>A	15.37:g.34648046G>A	ENSP00000329448:p.Gly585Arg					NUTM1_ENST00000333756.4_Missense_Mutation_p.G585R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G603R	p.G613R							8	2219	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1837G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980969	0.74474	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.11385	2.79;2.78;2.79	5.08	3.13	0.36017	.	0.265541	0.26590	N	0.023538	T	0.22166	0.0534	L	0.55481	1.735	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.92;0.964;0.92	T	0.03212	-1.1060	10	0.46703	T	0.11	.	7.3726	0.26810	0.0933:0.1681:0.7386:0.0	.	603;613;585	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	613;603;585	ENSP00000444896:G613R;ENSP00000407031:G603R;ENSP00000329448:G585R	ENSP00000329448:G585R	G	+	1	0	C15orf55	32435338	0.960000	0.32886	0.002000	0.10522	0.626000	0.37791	1.990000	0.40717	0.489000	0.27749	0.655000	0.94253	GGG		0.597	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		44	234	0	0	0	1	0	44	234					A	34648046	G	A	34648046	3	1	79	1	0	0	0	0	1	0	0	0	1808	1000	35	2	1779	2	C15orf55	15	34648046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7487	34648046	67883346	15184	25501											
C15orf55	256646	broad.mit.edu	37	chr15	34649317	34649317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaggagaaaaagaaaaaGgaagcagaggaagaggatga	16	1	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649317G>T	ENST00000333756.4	+	7	3179	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	NUTM1_ENST00000537011.1_Missense_Mutation_p.K1036N|NUTM1_ENST00000438749.3_Missense_Mutation_p.K1026N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1008						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAAGAAAAAGGAAGCAGAGG	0.483																																						ENST00000537011.1																			0											c.(3106-3108)aaG>aaT		NUT midline carcinoma, family member 1							57	48	51					15																	34649317		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649317G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3024G>T	15.37:g.34649317G>T	ENSP00000329448:p.Lys1008Asn					NUTM1_ENST00000333756.4_Missense_Mutation_p.K1008N|NUTM1_ENST00000438749.3_Missense_Mutation_p.K1026N	p.K1036N							8	3490	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.3108G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939916	0.18281	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08720	3.06;3.06;3.06	3.76	0.54	0.17163	.	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32160	0.244;0.358;0.244	B;B;B	0.26770	0.033;0.073;0.033	T	0.39563	-0.9608	9	0.40728	T	0.16	.	4.9622	0.14072	0.4501:0.0:0.5499:0.0	.	1026;1036;1008	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	1036;1026;1008	ENSP00000444896:K1036N;ENSP00000407031:K1026N;ENSP00000329448:K1008N	ENSP00000329448:K1008N	K	+	3	2	C15orf55	32436609	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.231000	0.17872	0.291000	0.22468	-0.140000	0.14226	AAG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		30	183	1	0	1.2476e-16	1	1.37204e-16	30	183					T	34649317	G	T	34649317	3	4	79	1	0	0	0	0	1	0	0	0	1808	991	35	3	3050	3	C15orf55	15	34649317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1271	34649317	67882075	15185	25502											
C15orf55	256646	broad.mit.edu	37	chr15	34649395	34649395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagcctctcaccaagggaGcatcccctcagtcctcacca	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649395G>A	ENST00000333756.4	+	7	3257	c.3102G>A	c.(3100-3102)gaG>gaA	p.E1034E	NUTM1_ENST00000537011.1_Silent_p.E1062E|NUTM1_ENST00000438749.3_Silent_p.E1052E	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1034						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACCAAGGGAGCATCCCCTCA	0.527																																						ENST00000537011.1																			0											c.(3184-3186)gaG>gaA		NUT midline carcinoma, family member 1							82	68	73					15																	34649395		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649395G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3102G>A	15.37:g.34649395G>A						NUTM1_ENST00000333756.4_Silent_p.E1034E|NUTM1_ENST00000438749.3_Silent_p.E1052E	p.E1062E							8	3568	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3186G>A	CCDS32190.1																																																																																				0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		28	268	0	0	0	1	0	28	268					A	34649395	G	A	34649395	2	1	79	1	0	0	0	0	0	0	0	1	1808	962	34	2		2	C15orf55	15	34649395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	34649395	67881997	15186	25503											
LPCAT4	254531	broad.mit.edu	37	chr15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagccggcccaccacaAtcacaggtaagctccctaca	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	313					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCCACCACAATCACAGGTAA	0.537																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(937-939)aTt>aGt		lysophosphatidylcholine acyltransferase 4							109	105	106					15																	34654469		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34654469A>C	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.938T>G	15.37:g.34654469A>C	ENSP00000317300:p.Ile313Ser						p.I313S	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			10	1115	-			313					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.938T>G	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459603	0.43736	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.35	4.22	0.49857	.	0.502673	0.20331	N	0.094425	T	0.58694	0.2140	N	0.13168	0.305	0.36546	D	0.871549	B	0.02656	0.0	B	0.01281	0.0	T	0.55321	-0.8159	10	0.13853	T	0.58	-2.434	3.6788	0.08302	0.6844:0.0:0.3156:0.0	.	313	Q643R3	LPCT4_HUMAN	S	313	ENSP00000317300:I313S	ENSP00000317300:I313S	I	-	2	0	LPCAT4	32441761	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.021000	0.59480	0.482000	0.46254	ATT		0.537	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		14	507	0	0	0	1	0	14	507					C	34654469	A	C	34654469	3	2	79	1	0	0	0	0	1	0	0	0	8951	101	4	4	656	4	LPCAT4	15	34654469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5074	34654469	67876923	15187	25504											
ACTC1	70	broad.mit.edu	37	chr15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgccaatagtgatgaCttggccatcaggcagttcat	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	249					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(745-747)Gtc>Ttc		actin, alpha, cardiac muscle 1							98	92	94					15																	35084354		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084354C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.745G>T	15.37:g.35084354C>A	ENSP00000290378:p.Val249Phe					ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.V249F	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	1400	-		all_lung(180;2.3e-08)	249					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.745G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94758	-3.51	4.75	4.75	0.60458	.	0.000000	0.47093	U	0.000258	D	0.97841	0.9291	H	0.96576	3.845	0.80722	D	1	P	0.39535	0.677	P	0.51918	0.684	D	0.99364	1.0918	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	249	P68032	ACTC_HUMAN	F	249;214	ENSP00000290378:V249F	ENSP00000290378:V249F	V	-	1	0	ACTC1	32871646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GTC		0.532	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		63	233	1	0	6.20203e-27	1	7.16519e-27	63	233					A	35084354	C	A	35084354	3	1	79	1	0	0	0	0	1	0	0	0	195	565	20	3	400	3	ACTC1	15	35084354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429885	35084354	67447038	15188	25505											
AQR	9716	broad.mit.edu	37	chr15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagtttcatacacatcCtctgctccattttgtatagt	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	647					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CATACACATCCTCTGCTCCAT	0.328																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1939-1941)gaG>gaT		aquarius intron-binding spliceosomal factor							104	95	98					15																	35196597		1805	4065	5870	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35196597C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1941G>T	15.37:g.35196597C>A	ENSP00000156471:p.Glu647Asp						p.E647D	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	19	2166	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	647					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1941G>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780978	0.31502	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94138	-3.36	5.26	1.72	0.24424	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	L	0.33710	1.025	0.40691	D	0.982397	B	0.12630	0.006	B	0.16289	0.015	T	0.76080	-0.3090	10	0.22109	T	0.4	-18.8299	7.9653	0.30095	0.0:0.3197:0.0:0.6803	.	647	O60306	AQR_HUMAN	D	647	ENSP00000156471:E647D	ENSP00000156471:E647D	E	-	3	2	AQR	32983889	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.569000	0.45973	0.413000	0.25759	-0.302000	0.09304	GAG		0.328	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		45	247	1	0	2.58029e-29	1	3.0132e-29	45	247					A	35196597	C	A	35196597	3	1	79	1	0	0	0	0	1	0	0	0	835	680	24	3	2584	3	AQR	15	35196597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112243	35196597	67334795	15189	25506											
ZNF770	54989	broad.mit.edu	37	chr15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtagtgtctttccagtTtagatggagatcggaaactt	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	639					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1915-1917)aAa>aGa		zinc finger protein 770							146	134	138					15																	35273720		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273720T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1916A>G	15.37:g.35273720T>C	ENSP00000348673:p.Lys639Arg						p.K639R	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	2260	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	639					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1916A>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611236	0.46631	.	.	ENSG00000198146	ENST00000356321	T	0.27890	1.64	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.11364	0.135	0.23716	N	0.997036	P	0.48503	0.911	P	0.54460	0.753	T	0.13045	-1.0524	10	0.15066	T	0.55	-13.6585	10.5307	0.44975	0.0:0.0751:0.0:0.9249	.	639	Q6IQ21	ZN770_HUMAN	R	639	ENSP00000348673:K639R	ENSP00000348673:K639R	K	-	2	0	ZNF770	33061012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.219000	0.72066	0.460000	0.39030	AAA		0.423	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		111	511	0	0	0	1	0	111	511					C	35273720	T	C	35273720	3	2	79	1	0	0	0	0	1	0	0	0	18196	1841	64	4	163	4	ZNF770	15	35273720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77123	35273720	67257672	15190	25507											
ZNF770	54989	broad.mit.edu	37	chr15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttagtacacaagacacatTtaaaaggcctctgaccagta	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	189					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(565-567)aAa>aCa		zinc finger protein 770							61	60	61					15																	35275070		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275070T>G	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.566A>C	15.37:g.35275070T>G	ENSP00000348673:p.Lys189Thr						p.K189T	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	910	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	189					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.566A>C	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751978	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.18810	2.19	5.28	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.312282	0.25833	N	0.028016	T	0.26666	0.0652	L	0.39633	1.23	0.30520	N	0.768574	P	0.44776	0.843	P	0.51866	0.682	T	0.07102	-1.0790	10	0.34782	T	0.22	-6.6884	11.1873	0.48664	0.0:0.0:0.2942:0.7058	.	189	Q6IQ21	ZN770_HUMAN	T	189	ENSP00000348673:K189T	ENSP00000348673:K189T	K	-	2	0	ZNF770	33062362	0.430000	0.25538	1.000000	0.80357	0.994000	0.84299	0.305000	0.19254	0.986000	0.38683	0.533000	0.62120	AAA		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		37	178	0	0	0	1	0	37	178					G	35275070	T	G	35275070	3	3	79	1	0	0	0	0	1	0	0	0	18196	1841	64	4	1513	4	ZNF770	15	35275070	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1350	35275070	67256322	15191	25508											
ZNF770	54989	broad.mit.edu	37	chr15	35275451	35275451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactagttgtctaaaggttTtatgacacacatcacattca	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275451T>C	ENST00000356321.4	-	3	529	c.185A>G	c.(184-186)aAa>aGa	p.K62R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	62					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTAAAGGTTTTATGACACAC	0.348																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(184-186)aAa>aGa		zinc finger protein 770							76	74	75					15																	35275451		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275451T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.185A>G	15.37:g.35275451T>C	ENSP00000348673:p.Lys62Arg						p.K62R	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	529	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	62					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.185A>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236829	0.58886	.	.	ENSG00000198146	ENST00000356321	T	0.26223	1.75	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.42063	0.1186	L	0.39245	1.2	0.42829	D	0.994015	D	0.76494	0.999	D	0.87578	0.998	T	0.34054	-0.9844	10	0.66056	D	0.02	-12.231	14.0763	0.64891	0.0:0.0:0.0:1.0	.	62	Q6IQ21	ZN770_HUMAN	R	62	ENSP00000348673:K62R	ENSP00000348673:K62R	K	-	2	0	ZNF770	33062743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.962000	0.70364	2.100000	0.63781	0.533000	0.62120	AAA		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		7	307	0	0	0	1	0	7	307					C	35275451	T	C	35275451	3	2	79	1	0	0	0	0	1	0	0	0	18196	1841	64	4	1894	4	ZNF770	15	35275451	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	381	35275451	67255941	15192	25509											
ATPBD4	89978	broad.mit.edu	37	chr15	35674051	35674051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttaaatagagggcAatccaaagtgaaagtttcat	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35674051A>G	ENST00000256538.4	-	7	660	c.634T>C	c.(634-636)Tgc>Cgc	p.C212R	DPH6_ENST00000560386.1_5'UTR	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	212					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AATAGAGGGCAATCCAAAGTG	0.313																																						ENST00000256538.4																			0											c.(634-636)Tgc>Cgc		diphthamine biosynthesis 6							94	95	95					15																	35674051		2201	4296	6497	SO:0001583	missense	89978							g.chr15:35674051A>G		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.634T>C	15.37:g.35674051A>G	ENSP00000256538:p.Cys212Arg					DPH6_ENST00000560386.1_5'UTR	p.C212R	NM_080650.3	NP_542381.1					7	660	-								B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	c.634T>C	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899437	0.72754	.	.	ENSG00000134146	ENST00000256538	T	0.31769	1.48	5.44	5.44	0.79542	Domain of unknown function DUF71, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79169	-0.1914	10	0.62326	D	0.03	-9.6864	15.6515	0.77099	1.0:0.0:0.0:0.0	.	212	Q7L8W6	ATBD4_HUMAN	R	212	ENSP00000256538:C212R	ENSP00000256538:C212R	C	-	1	0	ATPBD4	33461343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.757000	0.91657	2.270000	0.75569	0.533000	0.62120	TGC		0.313	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		10	356	0	0	0	1	0	10	356					G	35674051	A	G	35674051	3	3	79	1	0	0	0	0	1	0	0	0	1203	130	5	4	181	4	ATPBD4	15	35674051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	398600	35674051	66857341	15193	25510											
C15orf41	84529	broad.mit.edu	37	chr15	36984338	36984338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgcagtgcattgtgaaCgactgctgttacggaccact	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(436-438)aaC>aaT		chromosome 15 open reading frame 41							95	87	90					15																	36984338		1861	4091	5952	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36984338C>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.438C>T	15.37:g.36984338C>T						C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000562877.1_Silent_p.N48N	p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	7	688	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	146					B2RD87	Silent	SNP	ENST00000566621.1	37	c.438C>T	CCDS45215.1																																																																																				0.428	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		24	117	0	0	0	1	0	24	117					T	36984338	C	T	36984338	2	4	79	1	0	0	0	0	0	0	0	1	1800	535	19	1		1	C15orf41	15	36984338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1310287	36984338	65547054	15194	25511											
MEIS2	4212	broad.mit.edu	37	chr15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggaggagcctgaaagttCttcatgatctgacttggagc	13	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000561208.1	-	6	1022	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E202K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K			O14770	MEIS2_HUMAN	Meis homeobox 2	202	Ser/Thr-rich.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGAAAGTTCTTCATGATCT	0.448																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(604-606)Gaa>Aaa		Meis homeobox 2							156	137	144					15																	37385817		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37385817C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.604G>A	15.37:g.37385817C>T	ENSP00000453793:p.Glu202Lys					MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K	p.E202K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	7	1050	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	202			Ser/Thr-rich.		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.604G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637900	0.67130	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.31730	0.032;0.337;0.228;0.03;0.089;0.142;0.159;0.03	B;B;B;B;B;B;B;B	0.35278	0.044;0.199;0.071;0.062;0.075;0.044;0.06;0.044	T	0.02743	-1.1116	10	0.42905	T	0.14	-0.1362	20.5568	0.99304	0.0:1.0:0.0:0.0	.	189;202;202;202;202;56;114;189	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	K	202;202;202;202;202;189;189;114;56	ENSP00000326296:E202K;ENSP00000341400:E202K;ENSP00000372216:E202K;ENSP00000404185:E202K;ENSP00000391887:E202K;ENSP00000339549:E189K;ENSP00000380745:E114K;ENSP00000219869:E56K	ENSP00000219869:E56K	E	-	1	0	MEIS2	35173109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA		0.448	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		54	302	0	0	0	1	0	54	302					T	37385817	C	T	37385817	3	4	79	1	0	0	0	0	1	0	0	0	9509	922	32	2	920	2	MEIS2	15	37385817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401479	37385817	65145575	15195	25512											
MEIS2	4212	broad.mit.edu	37	chr15	37390266	37390266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtgcgcgccgtagtgCtgtgtggcgtggagcggcgg	23	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000561208.1	-	2	565	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000338564.5_Silent_p.Q49Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000559085.1_Silent_p.Q36Q|RP11-128A17.1_ENST00000559509.1_RNA			O14770	MEIS2_HUMAN	Meis homeobox 2	49					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGCCGTAGTGCTGTGTGGCGT	0.672																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(145-147)caG>caA		Meis homeobox 2							54	56	55					15																	37390266		2200	4296	6496	SO:0001819	synonymous_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37390266C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.147G>A	15.37:g.37390266C>T						MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000561208.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000559085.1_Silent_p.Q36Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q	p.Q49Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	3	593	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	49					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.147G>A	CCDS10044.1																																																																																				0.672	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		94	394	0	0	0	1	0	94	394					T	37390266	C	T	37390266	2	4	79	1	0	0	0	0	0	0	0	1	9509	796	28	2		2	MEIS2	15	37390266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4449	37390266	65141126	15196	25513											
RASGRP1	10125	broad.mit.edu	37	chr15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagcagatctttggctcCcaatgagcaaaggttggaca	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	618					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTTGGCTCCCAATGAGCAA	0.468																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1852-1854)Gga>Tga		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							111	109	109					15																	38791016		1873	4095	5968	SO:0001587	stop_gained	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791016C>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1852G>T	15.37:g.38791016C>A	ENSP00000310244:p.Gly618*					RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*	p.G618*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	2029	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	618					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	c.1852G>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629023	0.96671	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.39	5.39	0.77823	.	0.399974	0.27130	N	0.020800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4143	19.34	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	X	618;583;583;570	.	ENSP00000310244:G618X	G	-	1	0	RASGRP1	36578308	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.190000	0.65104	2.808000	0.96608	0.655000	0.94253	GGA		0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		100	434	1	0	1.31458e-49	1	1.62656e-49	100	434					A	38791016	C	A	38791016	4	1	79	1	0	0	0	0	0	1	0	0	13124	632	22	3	553	3	RASGRP1	15	38791016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400750	38791016	63740376	15197	25514											
RASGRP1	10125	broad.mit.edu	37	chr15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagcctcgagattgagCtgtgacacagcccacctatc	9	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	304	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGAGATTGAGCTGTGACACAG	0.488																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(910-912)aGc>aAc		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							125	125	125					15																	38803860		1996	4175	6171	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38803860C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.911G>A	15.37:g.38803860C>T	ENSP00000310244:p.Ser304Asn					RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N	p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	8	1088	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	304			Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.911G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046704	0.93740	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.998	T	0.64753	-0.6333	10	0.87932	D	0	-24.3189	19.0978	0.93260	0.0:1.0:0.0:0.0	.	304;304;304;304	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	N	304;304;304;304;256;304;304	ENSP00000310244:S304N;ENSP00000388540:S304N;ENSP00000444762:S256N;ENSP00000413105:S304N	ENSP00000310244:S304N	S	-	2	0	RASGRP1	36591152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	AGC		0.488	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		75	282	0	0	0	1	0	75	282					T	38803860	C	T	38803860	3	4	79	1	0	0	0	0	1	0	0	0	13124	797	28	2	1522	2	RASGRP1	15	38803860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	38803860	63727532	15198	25515											
C15orf54	400360	broad.mit.edu	37	chr15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattactctttgcacagaaaCctcagtctcctgggtggaag	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(370-372)Cct>Tct		chromosome 15 open reading frame 54							133	119	124					15																	39544706		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544706C>T		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.370C>T	15.37:g.39544706C>T	ENSP00000323686:p.Pro124Ser					C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	p.P124S	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	738	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	124					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.370C>T	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687291	0.14973	.	.	ENSG00000175746	ENST00000318578	T	0.40756	1.02	5.07	2.71	0.32032	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	0.999994	B	0.12013	0.005	B	0.10450	0.005	T	0.22800	-1.0206	9	0.87932	D	0	.	9.227	0.37414	0.6178:0.3822:0.0:0.0	.	124	Q8N8G6	CO054_HUMAN	S	124	ENSP00000323686:P124S	ENSP00000323686:P124S	P	+	1	0	C15orf54	37331998	0.710000	0.27896	0.189000	0.23252	0.044000	0.14063	1.137000	0.31479	0.387000	0.25024	-0.262000	0.10625	CCT		0.458	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		111	509	0	0	0	1	0	111	509					T	39544706	C	T	39544706	3	4	79	1	0	0	0	0	1	0	0	0	1807	507	18	2	372	2	C15orf54	15	39544706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740846	39544706	62986686	15199	25516											
THBS1	7057	broad.mit.edu	37	chr15	39885650	39885650	+	Silent	SNP	C	C	T													ggcaccttcttcatcaacacCgaaagggacgatgactatgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	ENST00000260356.5	+	19	3213	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1016	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCATCAACACCGAAAGGGACG	0.493																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3046-3048)acC>acT		thrombospondin 1	Becaplermin(DB00102)						209	212	211					15																	39885650		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885650C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3048C>T	15.37:g.39885650C>T							p.T1016T	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3213	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1016			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.3048C>T	CCDS32194.1																																																																																				0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		222	1117	0	0	0	1	0	222	1117					T	39885650	C	T	39885650	2	4	79	1	0	0	0	0	0	0	0	1	15905	639	23	1		1	THBS1	15	39885650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340944	39885650	62645742	15200	25517	158	2									
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A													gcaccttcttcatcaacaccGaaagggacgatgactatgct					rs566389840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205	208	207					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		55	1254	0	0	0	1	0	55	1254					A	39885651	G	A	39885651	3	1	79	1	0	0	0	0	1	0	0	0	15905	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	39885651	62645741	15201	25518	158	2									
THBS1	7057	broad.mit.edu	37	chr15	39886550	39886550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggctgactcaggacccatCtatgataaaacctatgctgg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1138	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAGGACCCATCTATGATAAAA	0.388																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3412-3414)atC>atT		thrombospondin 1	Becaplermin(DB00102)						138	132	134					15																	39886550		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39886550C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3414C>T	15.37:g.39886550C>T							p.I1138I	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	21	3579	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1138			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.3414C>T	CCDS32194.1																																																																																				0.388	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		69	349	0	0	0	1	0	69	349					T	39886550	C	T	39886550	2	4	79	1	0	0	0	0	0	0	0	1	15905	903	32	2		2	THBS1	15	39886550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899	39886550	62644842	15202	25519											
FSIP1	161835	broad.mit.edu	37	chr15	40005738	40005738	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcctaagtatcttttcTcctggagttacttccatatt	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	365										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTATCTTTTCTCCTGGAGTTA	0.378																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1093-1095)ggA>ggC		fibrous sheath interacting protein 1							225	219	221					15																	40005738		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40005738T>G	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1095A>C	15.37:g.40005738T>G							p.G365G	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	10	1304	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	365					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.1095A>C	CCDS10050.1																																																																																				0.378	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		180	860	0	0	0	1	0	180	860					G	40005738	T	G	40005738	2	3	79	1	0	0	0	0	0	0	0	1	6101	1538	54	4		4	FSIP1	15	40005738	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119188	40005738	62525654	15203	25520											
FSIP1	161835	broad.mit.edu	37	chr15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcagcaagctgctgatgCtgggtgactgcaagttcata	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	316										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCTGCTGATGCTGGGTGACTG	0.443																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(946-948)caG>caT		fibrous sheath interacting protein 1							87	83	85					15																	40018892		2203	4300	6503	SO:0001583	missense	161835							g.chr15:40018892C>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.948G>T	15.37:g.40018892C>A	ENSP00000280236:p.Gln316His						p.Q316H	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	9	1157	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	316					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.948G>T	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451852	0.43531	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	4.58	4.58	0.56647	.	0.540943	0.18233	N	0.147512	T	0.40886	0.1135	L	0.60455	1.87	0.30993	N	0.72124	P	0.52061	0.95	P	0.57620	0.824	T	0.30119	-0.9989	9	.	.	.	-3.3257	13.1909	0.59711	0.0:1.0:0.0:0.0	.	316	Q8NA03	FSIP1_HUMAN	H	316	ENSP00000280236:Q316H	.	Q	-	3	2	FSIP1	37806184	0.995000	0.38212	0.895000	0.35142	0.198000	0.23893	3.018000	0.49625	2.832000	0.97577	0.655000	0.94253	CAG		0.443	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		51	191	1	0	6.08268e-21	1	6.83416e-21	51	191					A	40018892	C	A	40018892	3	1	79	1	0	0	0	0	1	0	0	0	6101	796	28	3	813	3	FSIP1	15	40018892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13154	40018892	62512500	15204	25521											
EIF2AK4	440275	broad.mit.edu	37	chr15	40269004	40269004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgatgacgaggacgaCgacgaggacgagcacggtgg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	736	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGAGGACGACGACGAGGACG	0.657																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2206-2208)gaC>gaT		eukaryotic translation initiation factor 2 alpha kinase 4							48	52	51					15																	40269004		1792	3889	5681	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40269004C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2208C>T	15.37:g.40269004C>T						EIF2AK4_ENST00000382727.2_Silent_p.D736D	p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	2251	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	736			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.2208C>T	CCDS42016.1																																																																																				0.657	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			84	601	0	0	0	1	0	84	601					T	40269004	C	T	40269004	2	4	79	1	0	0	0	0	0	0	0	1	5015	535	19	1		1	EIF2AK4	15	40269004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250112	40269004	62262388	15205	25522											
EIF2AK4	440275	broad.mit.edu	37	chr15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttagacagagaagctgaCgaggagagaagtggaagcta	15	5	0	4	rs372621513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1236	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGAAGCTGACGAGGAGAGAA	0.373													C|||	6	0.00119808	0.0	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0061					ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(3706-3708)aCg>aTg		eukaryotic translation initiation factor 2 alpha kinase 4		C	MET/THR	0,3748		0,0,1874	109	110	110		3707	6	1	15		110	1,8219		0,1,4109	no	missense	EIF2AK4	NM_001013703.2	81	0,1,5983	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1236/1650	40303495	1,11967	1874	4110	5984	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40303495C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3707C>T	15.37:g.40303495C>T	ENSP00000263791:p.Thr1236Met					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	p.T1236M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	27	3750	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1236			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3707C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669489	0.88348	0.0	1.22E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.43294	0.95;0.95	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.42905	T	0.14	-15.7224	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1208;1236	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	M	1236;1208	ENSP00000263791:T1236M;ENSP00000372174:T1208M	ENSP00000263791:T1236M	T	+	2	0	EIF2AK4	38090787	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.554000	0.73923	2.835000	0.97688	0.650000	0.86243	ACG		0.373	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			30	99	0	0	0	1	0	30	99					T	40303495	C	T	40303495	3	4	79	1	0	0	0	0	1	0	0	0	5015	536	19	1	3813	1	EIF2AK4	15	40303495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	40303495	62227897	15206	25523											
BUB1B	701	broad.mit.edu	37	chr15	40494850	40494850	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgcagttctcaaaacCtcagaaagcatcacctcaaa	4	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	563					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTCAAAACCTCAGAAAGCA	0.403			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1687-1689)acC>acA		BUB1 mitotic checkpoint serine/threonine kinase B							137	136	136					15																	40494850		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40494850C>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1689C>A	15.37:g.40494850C>A						BUB1B_ENST00000412359.3_Silent_p.T577T	p.T563T	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	14	1884	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	563					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.1689C>A	CCDS10053.1																																																																																				0.403	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			111	525	1	0	1.45844e-59	1	1.83211e-59	111	525					A	40494850	C	A	40494850	2	1	79	1	0	0	0	0	0	0	0	1	1575	668	24	3		3	BUB1B	15	40494850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191355	40494850	62036542	15207	25524											
PAK6	56924	broad.mit.edu	37	chr15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccccagaagtccctccGcacagccccggccacaggcc	9	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000542403.2	+	4	1112	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000455577.2_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	334	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1000-1002)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							46	53	51					15																	40564567		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564567G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1001G>A	15.37:g.40564567G>A	ENSP00000439597:p.Arg334His					PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000542403.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H	p.R334H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1913	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	334			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1001G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291122	0.23564	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.78;-0.78;-0.83;-0.78;-0.78	3.97	3.97	0.46021	.	0.744197	0.12876	N	0.431845	T	0.58977	0.2160	L	0.29908	0.895	0.34774	D	0.734001	B;B	0.30914	0.199;0.3	B;B	0.25759	0.029;0.063	T	0.66228	-0.5976	10	0.49607	T	0.09	.	6.6628	0.23024	0.0918:0.0:0.7297:0.1785	.	334;334	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	334	ENSP00000406873:R334H;ENSP00000401153:R334H;ENSP00000409465:R334H;ENSP00000260404:R334H;ENSP00000439597:R334H	ENSP00000260404:R334H	R	+	2	0	PAK6	38351859	0.991000	0.36638	0.966000	0.40874	0.324000	0.28378	0.784000	0.26816	2.210000	0.71456	0.555000	0.69702	CGC		0.692	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			31	570	0	0	0	1	0	31	570					A	40564567	G	A	40564567	3	1	79	1	0	0	0	0	1	0	0	0	11446	1087	38	1	1011	1	PAK6	15	40564567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69717	40564567	61966825	15208	25525											
PLCB2	5330	broad.mit.edu	37	chr15	40583386	40583386	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcggggcaggctccTggggaggccacgtggggaca	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.e27-2		phospholipase C, beta 2							5	7	6					15																	40583386		1769	3833	5602	SO:0001630	splice_region_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583386T>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2871-2A>G	15.37:g.40583386T>C						PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site		NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	27	3120	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)						A8K6J2|B9EGH5	Splice_Site	SNP	ENST00000260402.3	37		CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626412	0.46840	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2433	0.54555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCB2	38370678	0.997000	0.39634	0.180000	0.23079	0.091000	0.18340	1.835000	0.39181	1.788000	0.52465	0.459000	0.35465	.		0.731	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		Intron	8	53	0	0	0	1	0	8	53					C	40583386	T	C	40583386	5	2	79	1	0	0	0	0	0	0	1	0	12070	1594	55	4	712	4	PLCB2	15	40583386	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18819	40583386	61948006	15209	25526											
PLCB2	5330	broad.mit.edu	37	chr15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcctccttgagcttcacaGacttcgtgtcatgggcactg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	830					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2488-2490)tCt>tAt		phospholipase C, beta 2							94	100	98					15																	40584302		2067	4214	6281	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40584302G>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2489C>A	15.37:g.40584302G>T	ENSP00000260402:p.Ser830Tyr					PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	p.S830Y	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	23	2738	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	830					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2489C>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161357	0.57368	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.23950	1.91;1.88	4.71	4.71	0.59529	.	0.370926	0.28784	N	0.014151	T	0.41858	0.1177	L	0.52011	1.625	0.80722	D	1	P;D;P	0.63880	0.911;0.993;0.62	B;P;B	0.62649	0.424;0.905;0.396	T	0.22312	-1.0220	10	0.72032	D	0.01	.	13.5805	0.61901	0.0782:0.0:0.9218:0.0	.	830;826;830	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Y	830	ENSP00000260402:S830Y;ENSP00000411991:S830Y	ENSP00000260402:S830Y	S	-	2	0	PLCB2	38371594	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	4.878000	0.63093	2.605000	0.88082	0.491000	0.48974	TCT		0.542	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			76	322	1	0	9.04243e-43	1	1.10195e-42	76	322					T	40584302	G	T	40584302	3	4	79	1	0	0	0	0	1	0	0	0	12070	942	33	3	1108	3	PLCB2	15	40584302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	40584302	61947090	15210	25527											
PLCB2	5330	broad.mit.edu	37	chr15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggacacacctaccttgGgcatcttggcaaacttccca	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000260402.3	-	3	476	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	76					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P76L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597																																						ENST00000260402.3																			1	Substitution - Missense(1)	p.P76L(1)	upper_aerodigestive_tract(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(226-228)cCc>cTc		phospholipase C, beta 2							93	92	92					15																	40595493		1986	4167	6153	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40595493G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.227C>T	15.37:g.40595493G>A	ENSP00000260402:p.Pro76Leu					PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	p.P76L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	3	476	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	76					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.227C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403713	0.83230	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.42513	0.97;0.97;0.97	4.53	3.61	0.41365	.	0.186336	0.47852	N	0.000216	T	0.62913	0.2467	M	0.75615	2.305	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;1.0;0.998	D;P;D;D	0.97110	0.999;0.885;1.0;0.967	T	0.67995	-0.5526	10	0.87932	D	0	.	13.0206	0.58784	0.0788:0.0:0.9212:0.0	.	76;76;76;76	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	L	76	ENSP00000260402:P76L;ENSP00000411991:P76L;ENSP00000444652:P76L	ENSP00000260402:P76L	P	-	2	0	PLCB2	38382785	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.386000	0.90166	1.253000	0.44018	0.655000	0.94253	CCC		0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			55	288	0	0	0	1	0	55	288					A	40595493	G	A	40595493	3	1	79	1	0	0	0	0	1	0	0	0	12070	1232	43	2	3450	2	PLCB2	15	40595493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11191	40595493	61935899	15211	25528											
DISP2	85455	broad.mit.edu	37	chr15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaccaggtggccttccGcatggcctacttccccttcg	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	536	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGGCCTTCCGCATGGCCTAC	0.617																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(1606-1608)cGc>cAc		dispatched homolog 2 (Drosophila)							87	76	80					15																	40659920		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659920G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1607G>A	15.37:g.40659920G>A	ENSP00000267889:p.Arg536His						p.R536H	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1694	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	536			SSD.		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.1607G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158351	0.38119	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.105275	0.64402	D	0.000007	D	0.93032	0.7782	L	0.45137	1.4	0.47905	D	0.999545	P	0.46656	0.882	B	0.39503	0.301	D	0.92354	0.5892	10	0.34782	T	0.22	-28.3214	19.5634	0.95382	0.0:0.0:1.0:0.0	.	536	A7MBM2	DISP2_HUMAN	H	536	ENSP00000267889:R536H	ENSP00000267889:R536H	R	+	2	0	DISP2	38447212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.979000	0.56888	2.625000	0.88918	0.561000	0.74099	CGC		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		60	275	0	0	0	1	0	60	275					A	40659920	G	A	40659920	3	1	79	1	0	0	0	0	1	0	0	0	4556	1087	38	1	1637	1	DISP2	15	40659920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64427	40659920	61871472	15212	25529											
DISP2	85455	broad.mit.edu	37	chr15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctataagcaggctggccccaGccccaaaacccgggccaggc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1243					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTGGCCCCAGCCCCAAAACC	0.682																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3727-3729)aGc>aAc		dispatched homolog 2 (Drosophila)							15	17	16					15																	40662041		2201	4291	6492	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40662041G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3728G>A	15.37:g.40662041G>A	ENSP00000267889:p.Ser1243Asn						p.S1243N	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3815	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1243					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3728G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818993	0.16607	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.3	1.31	0.21738	.	0.708449	0.15445	N	0.261977	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40664	-0.9551	10	0.19590	T	0.45	-9.9672	6.7334	0.23395	0.2686:0.2421:0.4894:0.0	.	1243	A7MBM2	DISP2_HUMAN	N	1243	ENSP00000267889:S1243N	ENSP00000267889:S1243N	S	+	2	0	DISP2	38449333	0.996000	0.38824	0.972000	0.41901	0.937000	0.57800	1.217000	0.32455	0.439000	0.26476	0.561000	0.74099	AGC		0.682	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		35	157	0	0	0	1	0	35	157					A	40662041	G	A	40662041	3	1	79	1	0	0	0	0	1	0	0	0	4556	971	34	2	3758	2	DISP2	15	40662041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2121	40662041	61869351	15213	25530											
BAHD1	22893	broad.mit.edu	37	chr15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcaggggatccccaccGcagccgtgaccgtgatcgtg	14	14	0	2	rs373140549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000416165.1	+	2	529	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(457-459)cGc>cAc		bromo adjacent homology domain containing 1		G	HIS/ARG	0,4378		0,0,2189	24	31	29		458	4.4	1	15		29	1,8559		0,1,4279	no	missense	BAHD1	NM_014952.3	29	0,1,6468	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	153/781	40751121	1,12937	2189	4280	6469	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751121G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.458G>A	15.37:g.40751121G>A	ENSP00000396976:p.Arg153His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	p.R153H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	717	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	153					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.458G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291807	0.10567	0.0	1.17E-4	ENSG00000140320	ENST00000416165	T	0.18174	2.23	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	P;P;P	0.52577	0.954;0.923;0.954	P;B;P	0.45449	0.481;0.288;0.481	T	0.16158	-1.0412	10	0.36615	T	0.2	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	153	ENSP00000396976:R153H	ENSP00000396976:R153H	R	+	2	0	BAHD1	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC		0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		33	309	0	0	0	1	0	33	309					A	40751121	G	A	40751121	3	1	79	1	0	0	0	0	1	0	0	0	1298	1087	38	1	460	1	BAHD1	15	40751121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89080	40751121	61780271	15214	25531											
BAHD1	22893	broad.mit.edu	37	chr15	40751773	40751773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggcctgtgtgttggGcctgagctcactgcactagg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000416165.1	+	2	1181	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000561234.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	370					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1108-1110)ggG>ggT		bromo adjacent homology domain containing 1							81	75	77					15																	40751773		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751773G>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1110G>T	15.37:g.40751773G>T						BAHD1_ENST00000416165.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	p.G370G			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	1369	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	370					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.1110G>T	CCDS10058.1																																																																																				0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		97	408	1	0	2.94851e-48	1	3.63789e-48	97	408					T	40751773	G	T	40751773	2	4	79	1	0	0	0	0	0	0	0	1	1298	1190	42	3		3	BAHD1	15	40751773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	40751773	61779619	15215	25532											
BAHD1	22893	broad.mit.edu	37	chr15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgccgccgtcgccgccGcactaatggctgggtacctg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000416165.1	+	3	1831	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	587	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1756-1758)cGc>cAc		bromo adjacent homology domain containing 1							75	86	82					15																	40754438		2154	4204	6358	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754438G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1760G>A	15.37:g.40754438G>A	ENSP00000396976:p.Arg587His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R587H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H	p.R586H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2016	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	587			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1757G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.235644	0.58886	.	.	ENSG00000140320	ENST00000416165	T	0.18016	2.24	5.74	3.82	0.43975	.	0.250811	0.38436	N	0.001682	T	0.15912	0.0383	N	0.08118	0	0.24179	N	0.995593	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.58660	0.843;0.7;0.843	T	0.04481	-1.0948	10	0.52906	T	0.07	-13.8077	9.1975	0.37237	0.0:0.3781:0.5076:0.1143	.	587;587;586	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	587	ENSP00000396976:R587H	ENSP00000396976:R587H	R	+	2	0	BAHD1	38541730	0.995000	0.38212	1.000000	0.80357	0.559000	0.35586	3.604000	0.54081	1.460000	0.47911	-0.196000	0.12772	CGC		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		178	810	0	0	0	1	0	178	810					A	40754438	G	A	40754438	3	1	79	1	0	0	0	0	1	0	0	0	1298	1087	38	1	1766	1	BAHD1	15	40754438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2665	40754438	61776954	15216	25533											
CHST14	113189	broad.mit.edu	37	chr15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgcaggcgacgatgTcacattccccgagttcctga	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	258					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(772-774)gTc>gCc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							108	117	114					15																	40764185		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764185T>C	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.773T>C	15.37:g.40764185T>C	ENSP00000307297:p.Val258Ala					CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	p.V258A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1026	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	258					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.773T>C	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759780	0.69763	.	.	ENSG00000169105	ENST00000306243	T	0.75821	-0.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.70228	0.3200	M	0.67625	2.065	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.70967	-0.4728	10	0.40728	T	0.16	-34.1455	8.9559	0.35818	0.0:0.0869:0.0:0.9131	.	258	Q8NCH0	CHSTE_HUMAN	A	258	ENSP00000307297:V258A	ENSP00000307297:V258A	V	+	2	0	CHST14	38551477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.135000	0.71696	2.109000	0.64355	0.533000	0.62120	GTC		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		197	782	0	0	0	1	0	197	782					C	40764185	T	C	40764185	3	2	79	1	0	0	0	0	1	0	0	0	3411	1667	58	4	775	4	CHST14	15	40764185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9747	40764185	61767207	15217	25534											
RPUSD2	27079	broad.mit.edu	37	chr15	40863937	40863937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccgttcacccctgtggCcgcttccgacacaacacagt	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000315616.7	+	2	779	c.741C>T	c.(739-741)ggC>ggT	p.G247G	RPUSD2_ENST00000559271.1_Silent_p.G186G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	247					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ACCCCTGTGGCCGCTTCCGAC	0.562																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(739-741)ggC>ggT		RNA pseudouridylate synthase domain containing 2							200	143	163					15																	40863937		2203	4300	6503	SO:0001819	synonymous_variant	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40863937C>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.741C>T	15.37:g.40863937C>T						RPUSD2_ENST00000559271.1_Silent_p.G186G	p.G247G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	2	779	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	247					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	ENST00000315616.7	37	c.741C>T	CCDS10061.1																																																																																				0.562	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		20	603	0	0	0	1	0	20	603					T	40863937	C	T	40863937	2	4	79	1	0	0	0	0	0	0	0	1	13717	726	26	2		2	RPUSD2	15	40863937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99752	40863937	61667455	15218	25535											
CASC5	57082	broad.mit.edu	37	chr15	40920867	40920867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatactatttgtgaagagagCttgagggaggtatgttaaaa	13	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40920867C>T	ENST00000346991.5	+	13	6042	c.5652C>T	c.(5650-5652)agC>agT	p.S1884S	CASC5_ENST00000399668.2_Silent_p.S1858S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1884	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTGAAGAGAGCTTGAGGGAGG	0.313																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(5650-5652)agC>agT		cancer susceptibility candidate 5							122	105	110					15																	40920867		1803	4073	5876	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40920867C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5652C>T	15.37:g.40920867C>T						CASC5_ENST00000399668.2_Silent_p.S1858S	p.S1884S			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	13	6042	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1884			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.5652C>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020658	0.19433	.	.	ENSG00000137812	ENST00000532406	.	.	.	5.75	1.64	0.23874	.	.	.	.	.	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48811	-0.9002	4	.	.	.	.	8.9461	0.35760	0.0:0.5138:0.0:0.4862	.	.	.	.	V	65	.	.	A	+	2	0	CASC5	38708159	0.961000	0.32948	0.995000	0.50966	0.980000	0.70556	-0.104000	0.10923	0.051000	0.15978	-0.268000	0.10319	GCT		0.313	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	401	0	0	0	1	0	10	401					T	40920867	C	T	40920867	2	4	79	1	0	0	0	0	0	0	0	1	2670	796	28	2		2	CASC5	15	40920867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56930	40920867	61610525	15219	25536											
CASC5	57082	broad.mit.edu	37	chr15	40949277	40949277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccttttagttcataaGcttattttccagtacgttga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	ENST00000346991.5	+	24	6990	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2200	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		tagttcataagcttattttcc	0.368																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(6598-6600)aaG>aaT		cancer susceptibility candidate 5							31	29	29					15																	40949277		1819	4087	5906	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40949277G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6600G>T	15.37:g.40949277G>T	ENSP00000335463:p.Lys2200Asn					CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N	p.K2200N			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	24	6990	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2200			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6600G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655224	0.67472	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06068	3.35;3.35	5.73	0.0106	0.14083	.	0.476666	0.18695	U	0.133755	T	0.04318	0.0119	L	0.34521	1.04	0.28308	N	0.922827	B;B	0.14438	0.01;0.01	B;B	0.16722	0.016;0.016	T	0.42498	-0.9448	10	0.16896	T	0.51	.	6.8251	0.23878	0.327:0.1318:0.5412:0.0	.	2174;2200	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	N	2200;2174	ENSP00000335463:K2200N;ENSP00000382576:K2174N	ENSP00000335463:K2200N	K	+	3	2	CASC5	38736569	0.994000	0.37717	0.999000	0.59377	0.973000	0.67179	-0.017000	0.12590	0.089000	0.17243	-0.150000	0.13652	AAG		0.368	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		16	89	1	0	6.72482e-11	1	7.15107e-11	16	89					T	40949277	G	T	40949277	3	4	79	1	0	0	0	0	1	0	0	0	2670	962	34	3	6690	3	CASC5	15	40949277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28410	40949277	61582115	15220	25537											
FAM82A2	55177	broad.mit.edu	37	chr15	41029390	41029390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcagagtttttccctaGttctctgtagcactgaaaag	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41029390G>A	ENST00000260385.6	-	11	2358	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Silent_p.L431L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	431					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTTTTCCCTAGTTCTCTGTAG	0.448																																						ENST00000260385.6																			0											c.(1291-1293)Cta>Tta		regulator of microtubule dynamics 3							197	196	197					15																	41029390		2203	4300	6503	SO:0001819	synonymous_variant	55177							g.chr15:41029390G>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1291C>T	15.37:g.41029390G>A						RMDN3_ENST00000338376.3_Silent_p.L431L	p.L431L							11	2358	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Silent	SNP	ENST00000260385.6	37	c.1291C>T	CCDS10063.1																																																																																				0.448	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		217	981	0	0	0	1	0	217	981					A	41029390	G	A	41029390	2	1	79	1	0	0	0	0	0	0	0	1	5656	1020	36	2		2	FAM82A2	15	41029390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80113	41029390	61502002	15221	25538											
FAM82A2	55177	broad.mit.edu	37	chr15	41043684	41043684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgtgaagtagacagagCtggagccagtggagtcactc	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41043684C>T	ENST00000260385.6	-	3	1531	c.464G>A	c.(463-465)aGc>aAc	p.S155N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S155N			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	155					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GTAGACAGAGCTGGAGCCAGT	0.587																																						ENST00000260385.6																			0											c.(463-465)aGc>aAc		regulator of microtubule dynamics 3							84	85	85					15																	41043684		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41043684C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.464G>A	15.37:g.41043684C>T	ENSP00000260385:p.Ser155Asn					RMDN3_ENST00000338376.3_Missense_Mutation_p.S155N|RMDN3_ENST00000558560.1_5'UTR	p.S155N							3	1531	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.464G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794876	0.90453	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.47177	0.85;0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.72894	2.215	0.46701	D	0.999169	D	0.67145	0.996	D	0.63877	0.919	T	0.69661	-0.5085	10	0.56958	D	0.05	-12.9295	18.4611	0.90738	0.0:1.0:0.0:0.0	.	155	Q96TC7	RMD3_HUMAN	N	155;155;92	ENSP00000260385:S155N;ENSP00000342493:S155N	ENSP00000260385:S155N	S	-	2	0	FAM82A2	38830976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.871000	0.69628	2.457000	0.83068	0.555000	0.69702	AGC		0.587	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		119	484	0	0	0	1	0	119	484					T	41043684	C	T	41043684	3	4	79	1	0	0	0	0	1	0	0	0	5656	797	28	2	988	2	FAM82A2	15	41043684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14294	41043684	61487708	15222	25539											
GCHFR	2644	broad.mit.edu	37	chr15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatactacgtcgatgaccCtccccgcatagtcctggaca	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000260447.4	+	3	316	c.155C>A	c.(154-156)cCt>cAt	p.P52H	GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H|DNAJC17_ENST00000558727.1_5'Flank	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	52					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(103-105)cCt>cAt		GTP cyclohydrolase I feedback regulator							110	102	105					15																	41059447		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059447C>A	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"GTP cyclohydrolase I feedback regulatory protein"			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.155C>A	15.37:g.41059447C>A	ENSP00000260447:p.Pro52His					GCHFR_ENST00000260447.4_Missense_Mutation_p.P52H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H	p.P35H			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	326	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	52					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.104C>A	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129110	0.94473	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.045192	0.85682	D	0.000000	D	0.82467	0.5043	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.947	D	0.83786	0.0228	8	0.87932	D	0	-6.9784	19.6421	0.95762	0.0:1.0:0.0:0.0	.	41;52	B7ZLM8;P30047	.;GFRP_HUMAN	H	52	.	ENSP00000260447:P52H	P	+	2	0	GCHFR	38846739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCT		0.592	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		57	604	1	0	7.47603e-22	1	8.43918e-22	57	604					A	41059447	C	A	41059447	3	1	79	1	0	0	0	0	1	0	0	0	6320	681	24	3	165	3	GCHFR	15	41059447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15763	41059447	61471945	15223	25540											
RHOV	171177	broad.mit.edu	37	chr15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagctgctcaaacgaagcAgaagaacttcttccagcggc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(700-702)Tgc>Ggc		ras homolog family member V							66	72	70					15																	41165267		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165267A>C	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"ras homolog gene family, member V"	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.700T>G	15.37:g.41165267A>C	ENSP00000220507:p.Cys234Gly						p.C234G	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	849	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	234						Missense_Mutation	SNP	ENST00000220507.4	37	c.700T>G	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092332	0.76756	.	.	ENSG00000104140	ENST00000220507	T	0.72942	-0.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85743	0.1338	10	0.72032	D	0.01	.	15.3612	0.74475	1.0:0.0:0.0:0.0	.	234	Q96L33	RHOV_HUMAN	G	234	ENSP00000220507:C234G	ENSP00000220507:C234G	C	-	1	0	RHOV	38952559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.869000	0.92326	2.037000	0.60232	0.254000	0.18369	TGC		0.572	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			52	429	0	0	0	1	0	52	429					C	41165267	A	C	41165267	3	2	79	1	0	0	0	0	1	0	0	0	13396	188	7	4	14	4	RHOV	15	41165267	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105820	41165267	61366125	15224	25541											
VPS18	57617	broad.mit.edu	37	chr15	41192523	41192523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagctctacctgagccggCttggggctctgcagggcgac	15	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41192523C>A	ENST00000220509.5	+	4	1846	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	503					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGAGCCGGCTTGGGGCTCT	0.607																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1507-1509)Ctt>Att		vacuolar protein sorting 18 homolog (S. cerevisiae)							77	86	83					15																	41192523		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192523C>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1507C>A	15.37:g.41192523C>A	ENSP00000220509:p.Leu503Ile					VPS18_ENST00000558474.1_Intron	p.L503I	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1846	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	503					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1507C>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925968	0.73327	.	.	ENSG00000104142	ENST00000220509	T	0.22539	1.95	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.45470	1.425	0.80722	D	1	P	0.40515	0.719	B	0.37091	0.241	T	0.02781	-1.1111	10	0.19590	T	0.45	-24.7712	19.3228	0.94248	0.0:1.0:0.0:0.0	.	503	Q9P253	VPS18_HUMAN	I	503	ENSP00000220509:L503I	ENSP00000220509:L503I	L	+	1	0	VPS18	38979815	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.048000	0.71046	2.633000	0.89246	0.561000	0.74099	CTT		0.607	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			34	941	1	0	1.06801e-11	1	1.14091e-11	34	941					A	41192523	C	A	41192523	3	1	79	1	0	0	0	0	1	0	0	0	17248	797	28	3	1521	3	VPS18	15	41192523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27256	41192523	61338869	15225	25542											
VPS18	57617	broad.mit.edu	37	chr15	41194882	41194882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaattgcgcaagaagctGtggctgaagatcgcacggca	15	8	0	3	rs202073150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41194882G>A	ENST00000220509.5	+	5	2604	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	755					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCAAGAAGCTGTGGCTGAAGA	0.582																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2263-2265)ctG>ctA		vacuolar protein sorting 18 homolog (S. cerevisiae)							150	127	135					15																	41194882		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41194882G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2265G>A	15.37:g.41194882G>A						VPS18_ENST00000558474.1_3'UTR	p.L755L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	5	2604	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	755					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2265G>A	CCDS10069.1																																																																																				0.582	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			12	195	0	0	0	1	0	12	195					A	41194882	G	A	41194882	2	1	79	1	0	0	0	0	0	0	0	1	17248	1364	48	2		2	VPS18	15	41194882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2359	41194882	61336510	15226	25543											
INO80	54617	broad.mit.edu	37	chr15	41275118	41275118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggccgctgcagccccGgctttggctcctgccattgc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.A1465A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCAGCCCCGGCTTTGGCTC	0.617																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4393-4395)gcC>gcT		INO80 complex subunit							45	51	49					15																	41275118		2202	4294	6496	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41275118G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4395C>T	15.37:g.41275118G>A						INO80_ENST00000401393.3_Silent_p.A1465A	p.A1465A			Q9ULG1	INO80_HUMAN			35	4819	-			1465			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.4395C>T	CCDS10071.1																																																																																				0.617	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		44	528	0	0	0	1	0	44	528					A	41275118	G	A	41275118	2	1	79	1	0	0	0	0	0	0	0	1	7776	1103	39	1		1	INO80	15	41275118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80236	41275118	61256274	15227	25544											
INO80	54617	broad.mit.edu	37	chr15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaacactgcttggctgccaGactccctccttccttcagaa	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGCTGCCAGACTCCCTCCT	0.507																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3130-3132)Ctg>Atg		INO80 complex subunit							94	85	88					15																	41313242		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313242G>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3130C>A	15.37:g.41313242G>T	ENSP00000355205:p.Leu1044Met					INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA	p.L1044M			Q9ULG1	INO80_HUMAN			26	3554	-			1044			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3130C>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744557	0.49151	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	4.23	0.50019	.	0.427308	0.24260	N	0.040091	D	0.83811	0.5335	N	0.24115	0.695	0.35107	D	0.765768	P	0.46277	0.875	B	0.41571	0.36	D	0.85873	0.1417	10	0.28530	T	0.3	.	13.7206	0.62725	0.074:0.0:0.926:0.0	.	1044	Q9ULG1	INO80_HUMAN	M	1044	ENSP00000355205:L1044M;ENSP00000384686:L1044M	ENSP00000355205:L1044M	L	-	1	2	INO80	39100534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.784000	0.38674	1.397000	0.46682	-0.136000	0.14681	CTG		0.507	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		15	331	1	0	2.5808e-16	1	2.83451e-16	15	331					T	41313242	G	T	41313242	3	4	79	1	0	0	0	0	1	0	0	0	7776	933	33	3	1584	3	INO80	15	41313242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38124	41313242	61218150	15228	25545											
NUSAP1	51203	broad.mit.edu	37	chr15	41657701	41657701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgacgctcgcaaggccgGtcttgtggccctgcaagtca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000559596.1	+	7	849	c.762G>A	c.(760-762)cgG>cgA	p.R254R	NUSAP1_ENST00000414849.2_Silent_p.R253R|NUSAP1_ENST00000260359.6_Silent_p.R239R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	254	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547																																						ENST00000260359.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13						c.(715-717)cgG>cgA		nucleolar and spindle associated protein 1							35	35	35					15																	41657701		1897	4138	6035	SO:0001819	synonymous_variant	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41657701G>A	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.762G>A	15.37:g.41657701G>A						NUSAP1_ENST00000559596.1_Silent_p.R254R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000414849.2_Silent_p.R253R	p.R239R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	7	981	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	254			Interaction with microtubules (By similarity).		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	ENST00000559596.1	37	c.717G>A	CCDS45234.1																																																																																				0.547	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		24	97	0	0	0	1	0	24	97					A	41657701	G	A	41657701	2	1	79	1	0	0	0	0	0	0	0	1	10820	1248	44	2		2	NUSAP1	15	41657701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344459	41657701	60873691	15229	25546											
RTF1	23168	broad.mit.edu	37	chr15	41745191	41745191	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggccaacaaaactgcCtcctcaggcagttcagacaa	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	134					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAAAACTGCCTCCTCAGGCA	0.463																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(400-402)gcC>gcA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							79	74	76					15																	41745191		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41745191C>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.402C>A	15.37:g.41745191C>A						RTF1_ENST00000462276.1_3'UTR	p.A134A	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	3	414	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	134					Q96BX6	Silent	SNP	ENST00000389629.4	37	c.402C>A	CCDS32200.2																																																																																				0.463	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		44	157	1	0	5.20006e-24	1	5.93142e-24	44	157					A	41745191	C	A	41745191	2	1	79	1	0	0	0	0	0	0	0	1	13771	668	24	3		3	RTF1	15	41745191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87490	41745191	60786201	15230	25547											
RTF1	23168	broad.mit.edu	37	chr15	41758365	41758365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaacaaggaacggcgTtccaagcgggatgagaaact	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41758365T>C	ENST00000389629.4	+	6	816	c.804T>C	c.(802-804)cgT>cgC	p.R268R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	268	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGGAACGGCGTTCCAAGCGGG	0.433																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(802-804)cgT>cgC		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							93	85	88					15																	41758365		2203	4299	6502	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41758365T>C	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.804T>C	15.37:g.41758365T>C							p.R268R	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	6	816	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	268			Glu-rich.|Lys-rich.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.804T>C	CCDS32200.2																																																																																				0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		3	44	0	0	0	1	0	3	44					C	41758365	T	C	41758365	2	2	79	1	0	0	0	0	0	0	0	1	13771	1712	60	4		4	RTF1	15	41758365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13174	41758365	60773027	15231	25548											
LTK	4058	broad.mit.edu	37	chr15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgaggaccgcagaaaagtctCctgggaccccgggctagagc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000263800.6	-	2	172	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	26					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(76-78)Gag>Tag		leukocyte receptor tyrosine kinase							16	21	19					15																	41805286		2185	4286	6471	SO:0001587	stop_gained	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41805286C>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.76G>T	15.37:g.41805286C>A	ENSP00000263800:p.Glu26*	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron	p.E26*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	2	172	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	26					A6NNJ8|B4DL89|E9PFX4	Nonsense_Mutation	SNP	ENST00000263800.6	37	c.76G>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818287	0.71028	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	.	.	.	4.15	-1.42	0.08913	.	1.747210	0.04129	U	0.317719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9101	0.29785	0.0:0.5192:0.0:0.4808	.	.	.	.	X	26	.	ENSP00000263800:E26X	E	-	1	0	LTK	39592578	0.011000	0.17503	0.001000	0.08648	0.225000	0.24961	0.468000	0.22051	-0.355000	0.08199	-0.258000	0.10820	GAG		0.617	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			20	93	1	0	1.33834e-09	1	1.40959e-09	20	93					A	41805286	C	A	41805286	4	1	79	1	0	0	0	0	0	1	0	0	9118	864	30	3	2594	3	LTK	15	41805286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46921	41805286	60726106	15232	25549											
RPAP1	26015	broad.mit.edu	37	chr15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcagtggctgcagcGctgcctgcagacagaaaagc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000304330.4	-	21	3016	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A967V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCTGCAGCGCTGCCTGCAG	0.587																																						ENST00000304330.4																			1	Substitution - Missense(1)	p.A967V(1)	NS(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2899-2901)gCg>gTg		RNA polymerase II associated protein 1							32	31	31					15																	41814074		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814074G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2900C>T	15.37:g.41814074G>A	ENSP00000306123:p.Ala967Val					RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	21	3016	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	967			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2900C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331785	0.24167	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.88	-0.796	0.10912	.	1.434620	0.04140	N	0.319392	T	0.56529	0.1991	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.42582	-0.9443	10	0.36615	T	0.2	-15.5212	6.4346	0.21817	0.5094:0.1402:0.3504:0.0	.	967	Q9BWH6	RPAP1_HUMAN	V	967	ENSP00000306123:A967V	ENSP00000306123:A967V	A	-	2	0	RPAP1	39601366	0.354000	0.24912	0.000000	0.03702	0.002000	0.02628	2.133000	0.42093	-0.015000	0.14150	-0.259000	0.10710	GCG		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		48	145	0	0	0	1	0	48	145					A	41814074	G	A	41814074	3	1	79	1	0	0	0	0	1	0	0	0	13591	1087	38	1	1301	1	RPAP1	15	41814074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8788	41814074	60717318	15233	25550											
RPAP1	26015	broad.mit.edu	37	chr15	41814317	41814317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttctgggccagagcgagTgccaggtactgcaggtggta	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000304330.4	-	20	2990	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000561603.1_Silent_p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	958	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGAGCGAGTGCCAGGTACT	0.582																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2872-2874)gcA>gcG		RNA polymerase II associated protein 1							81	82	82					15																	41814317		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814317T>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2874A>G	15.37:g.41814317T>C						RPAP1_ENST00000561603.1_Silent_p.A958A	p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	20	2990	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	958			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.2874A>G	CCDS10079.1																																																																																				0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		98	453	0	0	0	1	0	98	453					C	41814317	T	C	41814317	2	2	79	1	0	0	0	0	0	0	0	1	13591	1683	59	4		4	RPAP1	15	41814317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	243	41814317	60717075	15234	25551											
MGA	23269	broad.mit.edu	37	chr15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagacttcccttaataTaaaacgagactttcttggtt	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000570161.1	+	1	983	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000219905.7_Missense_Mutation_p.I328T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCTTAATATAAAACGAGAC	0.408																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(982-984)aTa>aCa		MGA, MAX dimerization protein							52	51	52					15																	41962075		1863	4091	5954	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41962075T>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.983T>C	15.37:g.41962075T>C	ENSP00000457035:p.Ile328Thr					MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000570161.1_Missense_Mutation_p.I328T|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T	p.I328T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	1164	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	328					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.983T>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	7.224	0.597876	0.13939	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83506	-1.73;-1.73;-1.73	5.62	2.93	0.34026	.	1.281880	0.04560	N	0.391515	T	0.71117	0.3302	N	0.22421	0.69	0.22240	N	0.999264	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.56565	-0.7958	10	0.33141	T	0.24	.	2.3255	0.04222	0.0:0.2529:0.2946:0.4525	.	328;328	F5H7K2;E7ENI0	.;.	T	328	ENSP00000219905:I328T;ENSP00000374586:I328T;ENSP00000442467:I328T	ENSP00000219905:I328T	I	+	2	0	MGA	39749367	1.000000	0.71417	0.944000	0.38274	0.946000	0.59487	2.270000	0.43355	1.018000	0.39521	0.383000	0.25322	ATA		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		29	135	0	0	0	1	0	29	135					C	41962075	T	C	41962075	3	2	79	1	0	0	0	0	1	0	0	0	9581	1406	49	4	985	4	MGA	15	41962075	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147758	41962075	60569317	15235	25552											
MGA	23269	broad.mit.edu	37	chr15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcaggtgatacatcctgGtcttcaagaaggtaatagac	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000570161.1	+	4	2177	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACATCCTGGTCTTCAAGAA	0.373																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2176-2178)gGt>gTt		MGA, MAX dimerization protein							66	61	63					15																	41991346		1832	4077	5909	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41991346G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2177G>T	15.37:g.41991346G>T	ENSP00000457035:p.Gly726Val					MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000570161.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V	p.G726V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	5	2358	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	726					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.2177G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422001	0.25639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.34275	1.37;1.37;1.37	4.81	3.87	0.44632	.	3.584270	0.00424	N	0.000070	T	0.26955	0.0660	N	0.08118	0	0.43471	D	0.995682	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.002	T	0.01810	-1.1269	10	0.32370	T	0.25	.	12.9702	0.58508	0.0:0.1692:0.8308:0.0	.	726;726	F5H7K2;E7ENI0	.;.	V	726	ENSP00000219905:G726V;ENSP00000374586:G726V;ENSP00000442467:G726V	ENSP00000219905:G726V	G	+	2	0	MGA	39778638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	0.967000	0.38186	0.561000	0.74099	GGT		0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		16	93	1	0	5.01169e-05	1	5.1097e-05	16	93					T	41991346	G	T	41991346	3	4	79	1	0	0	0	0	1	0	0	0	9581	1261	44	3	2191	3	MGA	15	41991346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29271	41991346	60540046	15236	25553											
MGA	23269	broad.mit.edu	37	chr15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatctccttcaaccataActcttcctgttgcttccact	3	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000570161.1	+	14	5059	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAACCATAACTCTTCCTGT	0.498																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5059-5061)Act>Gct		MGA, MAX dimerization protein							157	148	151					15																	42035217		2020	4193	6213	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035217A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5059A>G	15.37:g.42035217A>G	ENSP00000457035:p.Thr1687Ala					MGA_ENST00000545763.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.T1687A|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron	p.T1687A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5240	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1687			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5059A>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022615	0.54683	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86769	-2.16;-2.17	4.9	4.9	0.64082	.	0.245644	0.28284	N	0.015907	D	0.85588	0.5731	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58266	0.836;0.694	D	0.87228	0.2258	10	0.87932	D	0	.	11.381	0.49757	0.8487:0.1513:0.0:0.0	.	303;1687	B4DVS1;E7ENI0	.;.	A	1687	ENSP00000219905:T1687A;ENSP00000374586:T1687A	ENSP00000219905:T1687A	T	+	1	0	MGA	39822509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.056000	0.61249	0.460000	0.39030	ACT		0.498	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		41	201	0	0	0	1	0	41	201					G	42035217	A	G	42035217	3	3	79	1	0	0	0	0	1	0	0	0	9581	43	2	4	5113	4	MGA	15	42035217	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43871	42035217	60496175	15237	25554											
MGA	23269	broad.mit.edu	37	chr15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctttctctgtcatgaatcCtgtaattcaagctgttgggt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000570161.1	+	16	5597	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATGAATCCTGTAATTCAA	0.488																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5596-5598)cCt>cAt		MGA, MAX dimerization protein							123	117	119					15																	42041402		1973	4160	6133	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041402C>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5597C>A	15.37:g.42041402C>A	ENSP00000457035:p.Pro1866His					MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000570161.1_Missense_Mutation_p.P1866H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H	p.P1866H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	5778	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1827					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5597C>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344375	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22945	1.93;1.93;1.93	5.72	5.72	0.89469	.	0.455762	0.18443	N	0.141068	T	0.38931	0.1059	N	0.19112	0.55	0.30792	N	0.740823	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;P	0.70935	0.936;0.971;0.936;0.894	T	0.36866	-0.9730	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	482;1657;1866;1827	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1866;1827;1657	ENSP00000219905:P1866H;ENSP00000374586:P1827H;ENSP00000442467:P1657H	ENSP00000219905:P1866H	P	+	2	0	MGA	39828694	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CCT		0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		18	421	1	0	7.07596e-05	1	7.20791e-05	18	421					A	42041402	C	A	42041402	3	1	79	1	0	0	0	0	1	0	0	0	9581	681	24	3	5659	3	MGA	15	42041402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6185	42041402	60489990	15238	25555											
MGA	23269	broad.mit.edu	37	chr15	42042630	42042630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttcagggtcacttactGctacctggagaacagataca	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000570161.1	+	16	6825	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCACTTACTGCTACCTGGAG	0.438																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6823-6825)ctG>ctA		MGA, MAX dimerization protein							79	75	76					15																	42042630		1896	4119	6015	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042630G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6825G>A	15.37:g.42042630G>A						MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000570161.1_Silent_p.L2275L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L	p.L2275L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	7006	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2236					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.6825G>A	CCDS55959.1																																																																																				0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		52	166	0	0	0	1	0	52	166					A	42042630	G	A	42042630	2	1	79	1	0	0	0	0	0	0	0	1	9581	1306	46	2		2	MGA	15	42042630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1228	42042630	60488762	15239	25556											
MGA	23269	broad.mit.edu	37	chr15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaccttgtgatgactcCgcaagggcaattgctcaccc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000570161.1	+	22	7799	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGATGACTCCGCAAGGGCAA	0.443																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7798-7800)cCg>cTg		MGA, MAX dimerization protein							116	119	118					15																	42057138		2019	4187	6206	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42057138C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7799C>T	15.37:g.42057138C>T	ENSP00000457035:p.Pro2600Leu					MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000570161.1_Missense_Mutation_p.P2600L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L	p.P2600L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	23	7980	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2561					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7799C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835652	0.91117	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86956	-2.16;-2.14;-2.19	5.89	5.89	0.94794	.	0.000000	0.50627	D	0.000118	D	0.89448	0.6718	N	0.24115	0.695	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90607	0.4549	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2391;2600	F5H7K2;E7ENI0	.;.	L	2600;2561;2391	ENSP00000219905:P2600L;ENSP00000374586:P2561L;ENSP00000442467:P2391L	ENSP00000219905:P2600L	P	+	2	0	MGA	39844430	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CCG		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		49	488	0	0	0	1	0	49	488					T	42057138	C	T	42057138	3	4	79	1	0	0	0	0	1	0	0	0	9581	652	23	1	7885	1	MGA	15	42057138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14508	42057138	60474254	15240	25557											
MGA	23269	broad.mit.edu	37	chr15	42058209	42058209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtttttcagaaaatgaCgacttatttatgatgccacg	7	6	1	3	rs370684330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000570161.1	+	23	7929	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000219905.7_Silent_p.D2643D			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGAAAATGACGACTTATTTA	0.353																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7927-7929)gaC>gaT		MGA, MAX dimerization protein		C	,	0,3640		0,0,1820	69	65	66		7302,7929	-1	1	15		66	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,5902	TT,TC,CC		0.0122,0.0,0.0085	,	2434/2857,2643/3066	42058209	1,11805	1820	4083	5903	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058209C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7929C>T	15.37:g.42058209C>T						MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000570161.1_Silent_p.D2643D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D	p.D2643D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8110	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2604					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.7929C>T	CCDS55959.1																																																																																				0.353	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		17	321	0	0	0	1	0	17	321					T	42058209	C	T	42058209	2	4	79	1	0	0	0	0	0	0	0	1	9581	535	19	1		1	MGA	15	42058209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	42058209	60473183	15241	25558											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacccaggccctgctggAcacagagctgcctggaggag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000456763.2	+	13	1581	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1366-1368)gAc>gGc		mitogen-activated protein kinase binding protein 1							61	51	55					15																	42107871		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107871A>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1385A>G	15.37:g.42107871A>G	ENSP00000393099:p.Asp462Gly					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D462G	p.D456G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1653	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	462					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1367A>G	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	19.42	3.824024	0.71143	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.48522	0.81;0.94;1.09;0.87;1.03	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.24115	0.695	0.80722	D	1	D;D;B;B	0.89917	1.0;1.0;0.007;0.005	D;D;B;B	0.91635	0.998;0.999;0.008;0.008	T	0.59878	-0.7371	10	0.54805	T	0.06	-23.4698	15.9544	0.79871	1.0:0.0:0.0:0.0	.	295;456;462;456	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	456;339;295;462;456	ENSP00000397570:D456G;ENSP00000221214:D339G;ENSP00000260357:D295G;ENSP00000393099:D462G;ENSP00000426154:D456G	ENSP00000221214:D339G	D	+	2	0	MAPKBP1	39895163	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.238000	0.65366	2.176000	0.68965	0.374000	0.22700	GAC		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		18	95	0	0	0	1	0	18	95					G	42107871	A	G	42107871	3	3	79	1	0	0	0	0	1	0	0	0	9333	275	10	4	1431	4	MAPKBP1	15	42107871	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49662	42107871	60423521	15242	25559											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116132	42116132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggcccagcagcccCtgtgcccagcaactgccagt	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000456763.2	+	30	4300	c.4104C>T	c.(4102-4104)ccC>ccT	p.P1368P	MAPKBP1_ENST00000457542.2_Silent_p.P1362P|MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.P1245P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4084-4086)ccC>ccT		mitogen-activated protein kinase binding protein 1							54	62	59					15																	42116132		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42116132C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4104C>T	15.37:g.42116132C>T						MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000456763.2_Silent_p.P1368P	p.P1362P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	29	4372	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1368					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.4086C>T	CCDS45239.1																																																																																				0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		110	505	0	0	0	1	0	110	505					T	42116132	C	T	42116132	2	4	79	1	0	0	0	0	0	0	0	1	9333	668	24	2		2	MAPKBP1	15	42116132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8261	42116132	60415260	15243	25560											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtctctttcagagccagCggtgagcctggagcagtgtg	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000456763.2	+	31	4434	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A1407V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4219-4221)gCg>gTg		mitogen-activated protein kinase binding protein 1							36	33	34					15																	42116688		2199	4296	6495	SO:0001583	missense	23005							g.chr15:42116688C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4238C>T	15.37:g.42116688C>T	ENSP00000393099:p.Ala1413Val					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A1413V	p.A1407V	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	30	4506	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1413					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4220C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.448093	0.26074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41400	1.18;1.34;1.0;1.22;1.3	5.06	-3.72	0.04411	.	0.774545	0.11970	N	0.511842	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	1	B;B;B;B;B;B	0.12013	0.0;0.003;0.0;0.0;0.005;0.004	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.003;0.004	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.479	3.9825	0.09501	0.0955:0.373:0.1026:0.4289	.	1246;1288;1246;1130;1413;1407	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	V	1407;1290;1246;1413;1130	ENSP00000397570:A1407V;ENSP00000221214:A1290V;ENSP00000260357:A1246V;ENSP00000393099:A1413V;ENSP00000426154:A1130V	ENSP00000221214:A1290V	A	+	2	0	MAPKBP1	39903980	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.042000	0.12063	-0.616000	0.05671	-1.278000	0.01390	GCG		0.642	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		11	47	0	0	0	1	0	11	47					T	42116688	C	T	42116688	3	4	79	1	0	0	0	0	1	0	0	0	9333	768	27	1	4356	1	MAPKBP1	15	42116688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556	42116688	60414704	15244	25561											
MAPKBP1	23005	broad.mit.edu	37	chr15	42117590	42117590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagcaatactcagaaCtgttgcttcgagccgtggaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000456763.2	+	32	4697	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L	MAPKBP1_ENST00000457542.2_Silent_p.L1495L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|JMJD7_ENST00000397299.4_5'Flank|JMJD7_ENST00000408047.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|MAPKBP1_ENST00000514566.1_Silent_p.L1218L|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|MAPKBP1_ENST00000221214.6_Silent_p.L1378L	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4483-4485)Ctg>Ttg		mitogen-activated protein kinase binding protein 1							37	37	37					15																	42117590		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42117590C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4501C>T	15.37:g.42117590C>T						MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000456763.2_Silent_p.L1501L	p.L1495L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4769	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1501					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.4483C>T	CCDS45239.1																																																																																				0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		36	200	0	0	0	1	0	36	200					T	42117590	C	T	42117590	2	4	79	1	0	0	0	0	0	0	0	1	9333	564	20	2		2	MAPKBP1	15	42117590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	902	42117590	60413802	15245	25562											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgagggagctggccgtgCgactgggcttcgggccctgt	18	11	0	1	rs199962342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000452633.1	+	12	1115	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	255	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GCTGGCCGTGCGACTGGGCTT	0.642													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18886	0.0		0.001	False		,,,				2504	0.0					ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1456-1458)Cga>Tga				C	stop/ARG,stop/ARG,stop/ARG	1,4405		0,1,2202	37	36	36		763,1456,1456	5.2	1	15		36	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	255/782,486/894,486/1013	42135893	3,13003	2203	4300	6503	SO:0001587	stop_gained	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42135893C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.763C>T	15.37:g.42135893C>T	ENSP00000396045:p.Arg255*					JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|PLA2G4B_ENST00000452633.1_Nonsense_Mutation_p.R255*	p.R486*	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			16	1465	+			255			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	ENST00000452633.1	37	c.1456C>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	37	6.069963	0.97256	2.27E-4	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9013	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	X	486;486;255;255	.	ENSP00000342785:R486X	R	+	1	2	JMJD7-PLA2G4B;PLA2G4B	39923185	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.545000	0.53648	2.573000	0.86826	0.655000	0.94253	CGA		0.642	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		62	247	0	0	0	1	0	62	247					T	42135893	C	T	42135893	4	4	79	1	0	0	0	0	0	1	0	0	7985	760	27	1	1518	1	JMJD7-PLA2G4B	15	42135893	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18303	42135893	60395499	15246	25563											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42136770	42136770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcctcttggattgCgtctcctacatcaccggggc	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000452633.1	+	13	1333	c.981C>T	c.(979-981)tgC>tgT	p.C327C	PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|PLA2G4B_ENST00000542534.2_Silent_p.C558C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	327	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTTGGATTGCGTCTCCTACA	0.637																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1672-1674)tgC>tgT									82	82	82					15																	42136770		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42136770C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.981C>T	15.37:g.42136770C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.C327C|PLA2G4B_ENST00000452633.1_Silent_p.C327C	p.C558C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			17	1683	+			327			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.1674C>T	CCDS45241.1																																																																																				0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		43	538	0	0	0	1	0	43	538					T	42136770	C	T	42136770	2	4	79	1	0	0	0	0	0	0	0	1	7985	776	27	1		1	JMJD7-PLA2G4B	15	42136770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877	42136770	60394622	15247	25564											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42137858	42137858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgagttctctccctaCgaggtcggcttccccaagta	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000452633.1	+	16	1732	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|PLA2G4B_ENST00000542534.2_Silent_p.Y691Y			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	460	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTCTCCCTACGAGGTCGGCT	0.612																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2071-2073)taC>taT									69	64	66					15																	42137858		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42137858C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1380C>T	15.37:g.42137858C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|PLA2G4B_ENST00000452633.1_Silent_p.Y460Y	p.Y691Y	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			20	2082	+			460			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2073C>T	CCDS45241.1																																																																																				0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		23	299	0	0	0	1	0	23	299					T	42137858	C	T	42137858	2	4	79	1	0	0	0	0	0	0	0	1	7985	547	19	1		1	JMJD7-PLA2G4B	15	42137858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	42137858	60393534	15248	25565											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42139009	42139009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcatcctgtcattggaCtacaacctccacggagcctt	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000452633.1	+	19	2275	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|PLA2G4B_ENST00000542534.2_Silent_p.D872D			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	641	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TGTCATTGGACTACAACCTCC	0.637																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2614-2616)gaC>gaT									84	79	81					15																	42139009		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139009C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1923C>T	15.37:g.42139009C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.D641D|PLA2G4B_ENST00000452633.1_Silent_p.D641D	p.D872D	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			23	2625	+			641					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2616C>T	CCDS45241.1																																																																																				0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		16	595	0	0	0	1	0	16	595					T	42139009	C	T	42139009	2	4	79	1	0	0	0	0	0	0	0	1	7985	564	20	2		2	JMJD7-PLA2G4B	15	42139009	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	42139009	60392383	15249	25566											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42139603	42139603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccatctcgcccagcccCgaagagcagctccagcctcg	8	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000452633.1	+	20	2368	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Silent_p.P903P			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	672	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGCCCAGCCCCGAAGAGCAGC	0.677																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2707-2709)ccC>ccT									80	85	83					15																	42139603		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139603C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2016C>T	15.37:g.42139603C>T						JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.P672P|PLA2G4B_ENST00000452633.1_Silent_p.P672P	p.P903P	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			24	2718	+			672					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2709C>T	CCDS45241.1																																																																																				0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		41	975	0	0	0	1	0	41	975					T	42139603	C	T	42139603	2	4	79	1	0	0	0	0	0	0	0	1	7985	639	23	1		1	JMJD7-PLA2G4B	15	42139603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	42139603	60391789	15250	25567											
SPTBN5	51332	broad.mit.edu	37	chr15	42162667	42162667	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggtgaggacttccaAgagatctctgtgaactctga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1847					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGACTTCCAAGAGATCTCTG	0.647																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5539-5541)Ttg>Ctg		spectrin, beta, non-erythrocytic 5							70	75	73					15																	42162667		2030	4182	6212	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162667A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5539T>C	15.37:g.42162667A>G							p.L1847L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5766	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1847						Silent	SNP	ENST00000320955.6	37	c.5539T>C																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		28	186	0	0	0	1	0	28	186					G	42162667	A	G	42162667	2	3	79	1	0	0	0	0	0	0	0	1	15174	69	3	4		4	SPTBN5	15	42162667	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23064	42162667	60368725	15251	25568											
SPTBN5	51332	broad.mit.edu	37	chr15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctctcctgcaccacacGctgctgctcagggacttcgg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1702					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCACCACACGCTGCTGCTCA	0.612																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5104-5106)Cgt>Tgt		spectrin, beta, non-erythrocytic 5							36	40	39					15																	42164561		2110	4252	6362	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164561G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5104C>T	15.37:g.42164561G>A	ENSP00000317790:p.Arg1702Cys						p.R1702C	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	27	5331	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1702						Missense_Mutation	SNP	ENST00000320955.6	37	c.5104C>T		.	.	.	.	.	.	.	.	.	.	.	14.65	2.597539	0.46318	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.12	-8.23	0.01033	.	2.359520	0.01718	N	0.028136	T	0.51500	0.1678	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.54174	0.744	T	0.63932	-0.6525	10	0.56958	D	0.05	.	11.1247	0.48310	0.0:0.2549:0.581:0.1641	.	1702	Q9NRC6	SPTN5_HUMAN	C	1702	ENSP00000317790:R1702C	ENSP00000317790:R1702C	R	-	1	0	SPTBN5	39951853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-1.364000	0.02161	-1.086000	0.02197	CGT		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		29	82	0	0	0	1	0	29	82					A	42164561	G	A	42164561	3	1	79	1	0	0	0	0	1	0	0	0	15174	1087	38	1	6088	1	SPTBN5	15	42164561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1894	42164561	60366831	15252	25569											
SPTBN5	51332	broad.mit.edu	37	chr15	42166183	42166183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaggctgccaggctccGcccagaactcagcacccgtt	10	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42166183G>A	ENST00000320955.6	-	25	4977	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1584					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCAGGCTCCGCCCAGAACTC	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(4750-4752)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							28	33	32					15																	42166183		2027	4200	6227	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42166183G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4750C>T	15.37:g.42166183G>A	ENSP00000317790:p.Arg1584Trp						p.R1584W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	25	4977	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1584						Missense_Mutation	SNP	ENST00000320955.6	37	c.4750C>T		.	.	.	.	.	.	.	.	.	.	.	5.857	0.342341	0.11069	.	.	ENSG00000137877	ENST00000320955	T	0.36340	1.26	5.26	3.38	0.38709	.	0.357061	0.24606	N	0.037096	T	0.27098	0.0664	L	0.48362	1.52	0.09310	N	1	B	0.26081	0.141	B	0.22880	0.042	T	0.19257	-1.0311	10	0.42905	T	0.14	.	5.2006	0.15262	0.1607:0.0:0.5872:0.2521	.	1584	Q9NRC6	SPTN5_HUMAN	W	1584	ENSP00000317790:R1584W	ENSP00000317790:R1584W	R	-	1	2	SPTBN5	39953475	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.047000	0.11963	0.603000	0.29913	-0.130000	0.14895	CGG		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	140	0	0	0	1	0	6	140					A	42166183	G	A	42166183	3	1	79	1	0	0	0	0	1	0	0	0	15174	1086	38	1	6450	1	SPTBN5	15	42166183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1622	42166183	60365209	15253	25570											
SPTBN5	51332	broad.mit.edu	37	chr15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A													gaatgctgccagtagctgccGcatggcgggcagcgagtctg					rs528552734		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.001	False		,,,				2504	0.0					ENST00000320955.6																			1	Substitution - Missense(1)	p.R342W(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1024-1026)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							25	29	28					15																	42178429		2001	4186	6187	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178429G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1024C>T	15.37:g.42178429G>A	ENSP00000317790:p.Arg342Trp						p.R342W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1251	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	342						Missense_Mutation	SNP	ENST00000320955.6	37	c.1024C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		48	221	0	0	0	1	0	48	221					A	42178429	G	A	42178429	3	1	79	1	0	0	0	0	1	0	0	0	15174	1086	38	1	10248	1	SPTBN5	15	42178429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12246	42178429	60352963	15254	25571	159	2									
SPTBN5	51332	broad.mit.edu	37	chr15	42178435	42178435	+	Missense_Mutation	SNP	C	C	A													tgccagtagctgccgcatggCgggcagcgagtctggaaaat					rs201188418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178435C>A	ENST00000320955.6	-	7	1245	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	340					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGCATGGCGGGCAGCGAG	0.642																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1018-1020)Gcc>Tcc		spectrin, beta, non-erythrocytic 5							26	30	28					15																	42178435		1993	4194	6187	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178435C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1018G>T	15.37:g.42178435C>A	ENSP00000317790:p.Ala340Ser						p.A340S	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1245	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	340						Missense_Mutation	SNP	ENST00000320955.6	37	c.1018G>T		.	.	.	.	.	.	.	.	.	.	C	16.38	3.108347	0.56291	.	.	ENSG00000137877	ENST00000320955	T	0.67345	-0.26	4.59	4.59	0.56863	.	0.194188	0.34676	N	0.003762	T	0.69672	0.3137	L	0.47716	1.5	0.22933	N	0.998543	D	0.58970	0.984	P	0.54026	0.74	T	0.62450	-0.6852	10	0.20519	T	0.43	.	17.0227	0.86438	0.0:1.0:0.0:0.0	.	340	Q9NRC6	SPTN5_HUMAN	S	340	ENSP00000317790:A340S	ENSP00000317790:A340S	A	-	1	0	SPTBN5	39965727	0.155000	0.22806	0.885000	0.34714	0.005000	0.04900	4.154000	0.58125	2.102000	0.63906	0.561000	0.74099	GCC		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		46	214	1	0	1.61004e-24	1	1.84098e-24	46	214					A	42178435	C	A	42178435	3	1	79	1	0	0	0	0	1	0	0	0	15174	768	27	3	10254	3	SPTBN5	15	42178435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	42178435	60352957	15255	25572	159	2									
EHD4	30844	broad.mit.edu	37	chr15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccttgcctagggaccAcatgagggccccgtagaccc	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	241	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTAGGGACCACATGAGGGCC	0.632																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(721-723)Tgg>Ggg		EH-domain containing 4							79	73	75					15																	42211611		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42211611A>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.721T>G	15.37:g.42211611A>C	ENSP00000220325:p.Trp241Gly						p.W241G	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	4	804	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	241					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.721T>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435371	0.83885	.	.	ENSG00000103966	ENST00000220325	D	0.94862	-3.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99568	1.0970	10	0.87932	D	0	-11.9241	15.2845	0.73816	1.0:0.0:0.0:0.0	.	241	Q9H223	EHD4_HUMAN	G	241	ENSP00000220325:W241G	ENSP00000220325:W241G	W	-	1	0	EHD4	39998903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.017000	0.59298	0.533000	0.62120	TGG		0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		11	293	0	0	0	1	0	11	293					C	42211611	A	C	42211611	3	2	79	1	0	0	0	0	1	0	0	0	4996	159	6	4	916	4	EHD4	15	42211611	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33176	42211611	60319781	15256	25573											
PLA2G4E	123745	broad.mit.edu	37	chr15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagccgcagagcctggaGgagagtgtccttattattca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	837	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCCTGGAGGAGAGTGTCC	0.547																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(2545-2547)Ctc>Ttc		phospholipase A2, group IVE							59	59	59					15																	42276014		1915	4122	6037	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42276014G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2545C>T	15.37:g.42276014G>A	ENSP00000382434:p.Leu849Phe					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	p.L849F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	20	3031	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	837			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2545C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823967	0.32237	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04603	3.59;3.59	5.56	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.450271	0.21517	N	0.073294	T	0.06234	0.0161	M	0.80982	2.52	0.24240	N	0.995364	P;B	0.44816	0.844;0.279	B;B	0.34242	0.178;0.178	T	0.33214	-0.9877	10	0.59425	D	0.04	-2.2893	5.4388	0.16496	0.1566:0.0:0.5502:0.2932	.	820;837	C9JK77;Q3MJ16	.;PA24E_HUMAN	F	849;820	ENSP00000382434:L849F;ENSP00000413897:L820F	ENSP00000382434:L849F	L	-	1	0	PLA2G4E	40063306	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	1.983000	0.40648	0.658000	0.30925	0.655000	0.94253	CTC		0.547	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		16	50	0	0	0	1	0	16	50					A	42276014	G	A	42276014	3	1	79	1	0	0	0	0	1	0	0	0	12047	1000	35	2	65	2	PLA2G4E	15	42276014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64403	42276014	60255378	15257	25574											
PLA2G4E	123745	broad.mit.edu	37	chr15	42285034	42285034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagctcctcctggaatttGcggagctggtctgggaacag	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	445	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTGGAATTTGCGGAGCTGGT	0.582																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(1369-1371)cgC>cgT		phospholipase A2, group IVE							49	51	51					15																	42285034		1930	4144	6074	SO:0001819	synonymous_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42285034G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1371C>T	15.37:g.42285034G>A						PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	p.R457R	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	13	1857	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	445			PLA2c.		Q6ZSC0	Silent	SNP	ENST00000399518.3	37	c.1371C>T	CCDS55962.1																																																																																				0.582	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		47	221	0	0	0	1	0	47	221					A	42285034	G	A	42285034	2	1	79	1	0	0	0	0	0	0	0	1	12047	1306	46	2		2	PLA2G4E	15	42285034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9020	42285034	60246358	15258	25575											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcctcatcagccgtcCcatgaagaactcggagccga	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1525-1527)Gga>Aga		phospholipase A2, group IVD (cytosolic)							49	52	51					15																	42364020		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364020C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1525G>A	15.37:g.42364020C>T	ENSP00000290472:p.Gly509Arg						p.G509R	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1619	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	509			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1525G>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349577	0.61183	.	.	ENSG00000159337	ENST00000290472	T	0.51325	0.71	4.79	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076843	0.49916	N	0.000126	T	0.75715	0.3887	M	0.93462	3.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	T	0.82890	-0.0233	10	0.87932	D	0	-29.4707	14.5948	0.68397	0.0:0.8528:0.1472:0.0	.	509	Q86XP0	PA24D_HUMAN	R	509	ENSP00000290472:G509R	ENSP00000290472:G509R	G	-	1	0	PLA2G4D	40151312	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.846000	0.69444	0.997000	0.38969	-0.305000	0.09177	GGA		0.612	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		69	369	0	0	0	1	0	69	369					T	42364020	C	T	42364020	3	4	79	1	0	0	0	0	1	0	0	0	12046	632	22	2	955	2	PLA2G4D	15	42364020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	42364020	60167372	15259	25576											
PLA2G4D	283748	broad.mit.edu	37	chr15	42373813	42373813	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggccagctcctcagggCtgtggcaatggaggatccag	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.e11-1		phospholipase A2, group IVD (cytosolic)							53	56	55					15																	42373813		2203	4299	6502	SO:0001630	splice_region_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42373813C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.822-1G>A	15.37:g.42373813C>T								NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	11	916	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)						Q8N176	Splice_Site	SNP	ENST00000290472.3	37		CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271183	0.40194	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40161105	1.000000	0.71417	0.945000	0.38365	0.007000	0.05969	4.928000	0.63447	2.267000	0.75376	0.650000	0.86243	.		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	Intron	46	403	0	0	0	1	0	46	403					T	42373813	C	T	42373813	5	4	79	1	0	0	0	0	0	0	1	0	12046	811	28	2	1675	2	PLA2G4D	15	42373813	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9793	42373813	60157579	15260	25577											
VPS39	23339	broad.mit.edu	37	chr15	42458803	42458803	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcctctcgtggcctttcaGaggggagttggctttcttgg	14	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000348544.4	-	16	1596	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_ENST00000318006.5_Silent_p.L522L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	533					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1564-1566)Ctg>Ttg		vacuolar protein sorting 39 homolog (S. cerevisiae)							92	87	89					15																	42458803		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42458803G>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1597C>T	15.37:g.42458803G>A						VPS39_ENST00000348544.4_Silent_p.L533L	p.L522L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	15	1726	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	533					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1564C>T	CCDS10083.1																																																																																				0.557	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		50	207	0	0	0	1	0	50	207					A	42458803	G	A	42458803	2	1	79	1	0	0	0	0	0	0	0	1	17263	933	33	2		2	VPS39	15	42458803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84990	42458803	60072589	15261	25578											
VPS39	23339	broad.mit.edu	37	chr15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcctttgaaaccgtaGtgatttgttgaaatgtcaat	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000348544.4	-	6	325	c.326C>A	c.(325-327)aCt>aAt	p.T109N	VPS39_ENST00000318006.5_Missense_Mutation_p.T98N|VPS39_ENST00000568357.1_5'Flank			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	109	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(292-294)aCt>aAt		vacuolar protein sorting 39 homolog (S. cerevisiae)							211	176	188					15																	42481361		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42481361G>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.326C>A	15.37:g.42481361G>T	ENSP00000335193:p.Thr109Asn					VPS39_ENST00000348544.4_Missense_Mutation_p.T109N	p.T98N	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	455	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	109			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.293C>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896044	0.72639	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04654	3.58;3.58	5.92	5.92	0.95590	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.54323	1.7	0.80722	D	1	P;P	0.45428	0.642;0.858	B;B	0.41666	0.288;0.363	T	0.42498	-0.9448	10	0.14252	T	0.57	-13.9161	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;98	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	98;109	ENSP00000326534:T98N;ENSP00000335193:T109N	ENSP00000326534:T98N	T	-	2	0	VPS39	40268653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.822000	0.97130	0.650000	0.86243	ACT		0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		74	311	1	0	1.10345e-40	1	1.33888e-40	74	311					T	42481361	G	T	42481361	3	4	79	1	0	0	0	0	1	0	0	0	17263	1029	36	3	2418	3	VPS39	15	42481361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22558	42481361	60050031	15262	25579											
TMEM87A	25963	broad.mit.edu	37	chr15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtttgagtcaggctaAtaaatatgtgtttgcaggtc	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	380						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1138-1140)aTt>aGt		transmembrane protein 87A							96	93	94					15																	42521011		2203	4299	6502	SO:0001583	missense	25963					integral to membrane		g.chr15:42521011A>C	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1139T>G	15.37:g.42521011A>C	ENSP00000374484:p.Ile380Ser					TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	p.I380S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1403	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	380					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1139T>G	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583501	0.65992	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.4	5.4	0.78164	.	0.546137	0.15099	U	0.280612	T	0.43634	0.1256	N	0.19112	0.55	0.80722	D	1	P	0.42203	0.773	P	0.44623	0.455	T	0.18555	-1.0333	9	0.14252	T	0.57	-2.8816	15.5958	0.76578	1.0:0.0:0.0:0.0	.	380	Q8NBN3	TM87A_HUMAN	S	380;319;356	.	ENSP00000374484:I380S	I	-	2	0	TMEM87A	40308303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.277000	0.76020	0.528000	0.53228	ATT		0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		57	278	0	0	0	1	0	57	278					C	42521011	A	C	42521011	3	2	79	1	0	0	0	0	1	0	0	0	16262	101	4	4	560	4	TMEM87A	15	42521011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39650	42521011	60010381	15263	25580											
GANC	2595	broad.mit.edu	37	chr15	42602499	42602499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggagatgcttaccgTctttataacctggatgtcta	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000318010.8	+	9	981	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000566442.1_Silent_p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	247					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ATGCTTACCGTCTTTATAACC	0.343																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(739-741)cgT>cgC		glucosidase, alpha; neutral C							103	103	103					15																	42602499		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42602499T>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.741T>C	15.37:g.42602499T>C						GANC_ENST00000566442.1_Silent_p.R247R	p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	9	981	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	247					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.741T>C	CCDS10084.1																																																																																				0.343	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		16	559	0	0	0	1	0	16	559					C	42602499	T	C	42602499	2	2	79	1	0	0	0	0	0	0	0	1	6262	1654	58	4		4	GANC	15	42602499	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81488	42602499	59928893	15264	25581											
GANC	2595	broad.mit.edu	37	chr15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattgggaatccagagacaGagctgctagtgcgttggtac	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TCCAGAGACAGAGCTGCTAGT	0.542																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1879-1881)Gag>Aag		glucosidase, alpha; neutral C							94	93	93					15																	42631902		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631902G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1879G>A	15.37:g.42631902G>A	ENSP00000326227:p.Glu627Lys						p.E627K	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2119	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	627					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1879G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972882	0.97162	.	.	ENSG00000214013	ENST00000318010	D	0.95205	-3.64	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.98113	1.0421	10	0.87932	D	0	-20.7149	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627	Q8TET4	GANC_HUMAN	K	627	ENSP00000326227:E627K	ENSP00000326227:E627K	E	+	1	0	GANC	40419194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		111	435	0	0	0	1	0	111	435					A	42631902	G	A	42631902	3	1	79	1	0	0	0	0	1	0	0	0	6262	943	33	2	1945	2	GANC	15	42631902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29403	42631902	59899490	15265	25582											
CAPN3	825	broad.mit.edu	37	chr15	42652272	42652272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagacctctctcttttataGccagaagttccccatccagt	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42652272G>A	ENST00000397163.3	+	1	488	c.269G>A	c.(268-270)aGc>aAc	p.S90N	CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	90	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTCTTTTATAGCCAGAAGTTC	0.498																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(268-270)aGc>aAc		calpain 3, (p94)							180	200	193					15																	42652272		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652272G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.269G>A	15.37:g.42652272G>A	ENSP00000380349:p.Ser90Asn					CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA	p.S90N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	488	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	90			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.269G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278620	0.80692	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.83	5.83	0.93111	Peptidase C2, calpain, catalytic domain (3);	0.148988	0.46442	U	0.000295	D	0.96281	0.8787	N	0.16016	0.355	0.58432	D	0.999996	B;P;D	0.53619	0.206;0.951;0.961	B;P;P	0.61477	0.141;0.823;0.889	D	0.95688	0.8738	10	0.32370	T	0.25	.	20.1047	0.97888	0.0:0.0:1.0:0.0	.	90;90;90	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	N	90	ENSP00000380349:S90N;ENSP00000350181:S90N;ENSP00000183936:S90N;ENSP00000326281:S90N	ENSP00000326281:S90N	S	+	2	0	CAPN3	40439564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.438000	0.59961	2.762000	0.94881	0.655000	0.94253	AGC		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			27	1757	0	0	0	1	0	27	1757					A	42652272	G	A	42652272	3	1	79	1	0	0	0	0	1	0	0	0	2635	971	34	2	323	2	CAPN3	15	42652272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20370	42652272	59879120	15266	25583											
CAPN3	825	broad.mit.edu	37	chr15	42693957	42693957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaagaaccggcggaaGgaccggaagctaggggccag	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000318023.7_Silent_p.K491K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000397200.4_5'Flank	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	491	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGGCGGAAGGACCGGAAGC	0.577																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1471-1473)aaG>aaA		calpain 3, (p94)							71	61	64					15																	42693957		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693957G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1473G>A	15.37:g.42693957G>A						CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000349748.3_Silent_p.K443K|RP11-164J13.1_ENST00000495723.1_RNA	p.K491K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1692	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	491			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.1473G>A	CCDS45245.1																																																																																				0.577	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			39	139	0	0	0	1	0	39	139					A	42693957	G	A	42693957	2	1	79	1	0	0	0	0	0	0	0	1	2635	991	35	2		2	CAPN3	15	42693957	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41685	42693957	59837435	15267	25584											
CAPN3	825	broad.mit.edu	37	chr15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcacgggaacaagcagCacctgcagaaggacttcttc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000561817.1_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	519	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACAAGCAGCACCTGCAGAA	0.612																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1555-1557)Cac>Tac		calpain 3, (p94)							99	75	83					15																	42695010		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42695010C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1555C>T	15.37:g.42695010C>T	ENSP00000380349:p.His519Tyr					CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|RP11-164J13.1_ENST00000495723.1_RNA	p.H519Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	13	1774	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	519			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1555C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538072	0.85917	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93360	0.7883	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.996;0.999;0.999;0.993	D;D;D;D;D;D	0.72338	0.961;0.961;0.935;0.962;0.977;0.952	D	0.94129	0.7386	10	0.87932	D	0	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	384;432;471;519;519;432	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	432;7;519;519;471;519;7	ENSP00000348667:H432Y;ENSP00000380349:H519Y;ENSP00000350181:H519Y;ENSP00000183936:H471Y;ENSP00000326281:H519Y;ENSP00000380384:H7Y	ENSP00000326281:H519Y	H	+	1	0	CAPN3	40482302	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.584000	0.82572	2.527000	0.85204	0.455000	0.32223	CAC		0.612	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			50	284	0	0	0	1	0	50	284					T	42695010	C	T	42695010	3	4	79	1	0	0	0	0	1	0	0	0	2635	710	25	2	1657	2	CAPN3	15	42695010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053	42695010	59836382	15268	25585											
CAPN3	825	broad.mit.edu	37	chr15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacctgcaggagttccAccacctctggaacaagatta	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	718	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGAGTTCCACCACCTCTGG	0.537																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2152-2154)cAc>cGc		calpain 3, (p94)							98	103	102					15																	42702663		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42702663A>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2153A>G	15.37:g.42702663A>G	ENSP00000380349:p.His718Arg					CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|RP11-164J13.1_ENST00000495723.1_RNA	p.H718R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	20	2372	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	718			Domain IV.|EF-hand 2.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2153A>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843131	0.32606	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.72	4.72	0.59763	EF-hand-like domain (1);	0.225090	0.35646	U	0.003074	T	0.48607	0.1509	N	0.01686	-0.76	0.32931	D	0.517108	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.003;0.002;0.0	B;B;B;B;B;B;B	0.11329	0.004;0.006;0.006;0.002;0.003;0.001;0.006	T	0.53387	-0.8446	10	0.11485	T	0.65	.	9.2716	0.37675	0.9082:0.0:0.0918:0.0	.	583;631;53;626;712;718;625	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	R	625;206;718;712;626;712;206;53;53	ENSP00000348667:H625R;ENSP00000380349:H718R;ENSP00000350181:H712R;ENSP00000183936:H626R;ENSP00000326281:H712R;ENSP00000380384:H206R;ENSP00000336840:H53R;ENSP00000380387:H53R	ENSP00000326281:H712R	H	+	2	0	CAPN3	40489955	0.930000	0.31532	0.998000	0.56505	0.653000	0.38743	1.396000	0.34531	1.992000	0.58205	0.460000	0.39030	CAC		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			103	355	0	0	0	1	0	103	355					G	42702663	A	G	42702663	3	3	79	1	0	0	0	0	1	0	0	0	2635	159	6	4	2283	4	CAPN3	15	42702663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7653	42702663	59828729	15269	25586											
ZFP106	64397	broad.mit.edu	37	chr15	42714807	42714807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacctttatagatccgcacGagctcaccagtctatgtcag	8	12	3	2	rs138934970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42714807G>A	ENST00000263805.4	-	15	5522	c.5196C>T	c.(5194-5196)ctC>ctT	p.L1732L	ZNF106_ENST00000565380.1_Silent_p.L960L|ZNF106_ENST00000565611.1_Silent_p.L917L|ZNF106_ENST00000565660.1_5'UTR	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1732					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGATCCGCACGAGCTCACCAG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17563	0.0		0.001	False		,,,				2504	0.0					ENST00000263805.4																			0											c.(5194-5196)ctC>ctT		zinc finger protein 106		G		3,4403	6.2+/-15.9	0,3,2200	89	81	83		5196	-10.8	0.3	15	dbSNP_134	83	0,8598		0,0,4299	no	coding-synonymous	ZFP106	NM_022473.1		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		1732/1884	42714807	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42714807G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5196C>T	15.37:g.42714807G>A						ZNF106_ENST00000565380.1_Silent_p.L960L|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565611.1_Silent_p.L917L	p.L1732L	NM_022473.1	NP_071918.1					15	5522	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.5196C>T	CCDS32208.1																																																																																				0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		49	200	0	0	0	1	0	49	200					A	42714807	G	A	42714807	2	1	79	1	0	0	0	0	0	0	0	1	17690	1045	37	1		1	ZFP106	15	42714807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12144	42714807	59816585	15270	25587											
ZFP106	64397	broad.mit.edu	37	chr15	42717205	42717205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccatggcattcaaagaTctcaagtcgtttgttgttct	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42717205T>C	ENST00000263805.4	-	13	5274	c.4948A>G	c.(4948-4950)Atc>Gtc	p.I1650V	ZNF106_ENST00000565380.1_Missense_Mutation_p.I878V|ZNF106_ENST00000565611.1_Missense_Mutation_p.I835V|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565660.1_5'Flank	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1650					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CATTCAAAGATCTCAAGTCGT	0.448																																						ENST00000263805.4																			0											c.(4948-4950)Atc>Gtc		zinc finger protein 106							69	64	66					15																	42717205		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42717205T>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4948A>G	15.37:g.42717205T>C	ENSP00000263805:p.Ile1650Val					ZNF106_ENST00000565380.1_Missense_Mutation_p.I878V|ZNF106_ENST00000565611.1_Missense_Mutation_p.I835V	p.I1650V	NM_022473.1	NP_071918.1					13	5274	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4948A>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	1.399	-0.578695	0.03854	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.16897	2.31	5.53	-0.691	0.11305	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.369265	0.31566	N	0.007432	T	0.04497	0.0123	N	0.01576	-0.805	0.24712	N	0.993191	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.002	T	0.42582	-0.9443	10	0.05525	T	0.97	-3.4112	11.7596	0.51894	0.0:0.4889:0.0:0.5111	.	878;1650;878	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	V	1650;878	ENSP00000263805:I1650V	ENSP00000263805:I1650V	I	-	1	0	ZFP106	40504497	0.130000	0.22417	0.106000	0.21319	0.967000	0.64934	0.440000	0.21592	-0.276000	0.09206	0.528000	0.53228	ATC		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		57	227	0	0	0	1	0	57	227					C	42717205	T	C	42717205	3	2	79	1	0	0	0	0	1	0	0	0	17690	1435	50	4	731	4	ZFP106	15	42717205	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2398	42717205	59814187	15271	25588											
ZFP106	64397	broad.mit.edu	37	chr15	42740566	42740566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacattttcagccctttcacCtgttcggagggaggcagccc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42740566C>A	ENST00000263805.4	-	3	3096	c.2770G>T	c.(2770-2772)Ggt>Tgt	p.G924C	ZNF106_ENST00000565380.1_Missense_Mutation_p.G152C|ZNF106_ENST00000565611.1_Missense_Mutation_p.G109C	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	924					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCCTTTCACCTGTTCGGAGG	0.473																																						ENST00000263805.4																			0											c.(2770-2772)Ggt>Tgt		zinc finger protein 106							178	177	178					15																	42740566		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42740566C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2770G>T	15.37:g.42740566C>A	ENSP00000263805:p.Gly924Cys					ZNF106_ENST00000565380.1_Missense_Mutation_p.G152C|ZNF106_ENST00000565611.1_Missense_Mutation_p.G109C	p.G924C	NM_022473.1	NP_071918.1					3	3096	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2770G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963628	0.34659	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.44083	0.93	5.23	3.27	0.37495	.	0.695263	0.13710	N	0.368184	T	0.32615	0.0835	L	0.34521	1.04	0.28553	N	0.911545	B;D;B	0.57257	0.001;0.979;0.001	B;P;B	0.46362	0.003;0.514;0.003	T	0.26326	-1.0106	10	0.72032	D	0.01	-0.2274	3.9365	0.09309	0.1851:0.4903:0.2431:0.0816	.	152;924;152	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	C	924;152	ENSP00000263805:G924C	ENSP00000263805:G924C	G	-	1	0	ZFP106	40527858	0.001000	0.12720	0.971000	0.41717	0.925000	0.55904	0.321000	0.19558	1.386000	0.46466	0.655000	0.94253	GGT		0.473	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		169	784	1	0	6.77334e-58	1	8.48631e-58	169	784					A	42740566	C	A	42740566	3	1	79	1	0	0	0	0	1	0	0	0	17690	681	24	3	2949	3	ZFP106	15	42740566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23361	42740566	59790826	15272	25589											
SNAP23	8773	broad.mit.edu	37	chr15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaatccacaaataaaaCgaatcacagacaaggtaaaa	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418																																						ENST00000249647.3																			0				large_intestine(1)|lung(1)	2						c.(556-558)Cga>Tga		synaptosomal-associated protein, 23kDa							102	96	98					15																	42822003		2203	4299	6502	SO:0001587	stop_gained	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42822003C>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.556C>T	15.37:g.42822003C>T	ENSP00000249647:p.Arg186*					SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*	p.R186*	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	7	1024	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	186			t-SNARE coiled-coil homology 2.		O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	ENST00000249647.3	37	c.556C>T	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA		0.418	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		61	335	0	0	0	1	0	61	335					T	42822003	C	T	42822003	4	4	79	1	0	0	0	0	0	1	0	0	14879	528	19	1	578	1	SNAP23	15	42822003	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81437	42822003	59709389	15273	25590											
SNAP23	8773	broad.mit.edu	37	chr15	42823668	42823668	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagagcaaagaaactcattGacagctaaagctactgctgt	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42823668G>T	ENST00000249647.3	+	8	1096	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	210					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GAAACTCATTGACAGCTAAAG	0.383																																						ENST00000249647.3																			0				large_intestine(1)|lung(1)	2						c.(628-630)Gac>Tac		synaptosomal-associated protein, 23kDa							161	145	151					15																	42823668		2203	4299	6502	SO:0001583	missense	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42823668G>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.628G>T	15.37:g.42823668G>T	ENSP00000249647:p.Asp210Tyr					SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F|SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y	p.D210Y	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	8	1096	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	210					O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	37	c.628G>T	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641378	0.67244	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	4.69	0.59074	.	0.362190	0.32190	N	0.006450	T	0.64821	0.2633	L	0.44542	1.39	0.42954	D	0.994389	P;P	0.48640	0.913;0.88	P;P	0.59171	0.733;0.853	T	0.65957	-0.6042	9	0.51188	T	0.08	-8.3922	12.7923	0.57541	0.084:0.0:0.916:0.0	.	157;210	O00161-2;O00161	.;SNP23_HUMAN	Y	210;157;157	.	ENSP00000249647:D210Y	D	+	1	0	SNAP23	40610960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.110000	0.31147	1.298000	0.44778	0.563000	0.77884	GAC		0.383	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		12	583	1	0	0.00136819	1	0.0013818	12	583					T	42823668	G	T	42823668	3	4	79	1	0	0	0	0	1	0	0	0	14879	1290	45	3	654	3	SNAP23	15	42823668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1665	42823668	59707724	15274	25591											
HAUS2	55142	broad.mit.edu	37	chr15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatagctcagaagtgtcatActctgcaaagcatgaataat	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	91					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363																																						ENST00000260372.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(271-273)Act>Gct		HAUS augmin-like complex, subunit 2							96	92	93					15																	42853482		2203	4299	6502	SO:0001583	missense	55142				cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle		g.chr15:42853482A>G	AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.271A>G	15.37:g.42853482A>G	ENSP00000260372:p.Thr91Ala					HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	p.T91A	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN			4	334	+			91					C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	37	c.271A>G	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004160	0.35320	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46451	0.87	5.8	-2.36	0.06663	.	1.191630	0.05775	N	0.607497	T	0.19725	0.0474	N	0.11427	0.14	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.25363	-1.0134	10	0.07030	T	0.85	-15.2457	8.1408	0.31082	0.3617:0.0:0.5174:0.1208	.	60;91	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	A	91;60	ENSP00000260372:T91A	ENSP00000260372:T91A	T	+	1	0	HAUS2	40640774	0.000000	0.05858	0.019000	0.16419	0.996000	0.88848	-0.165000	0.09968	-0.184000	0.10567	0.533000	0.62120	ACT		0.363	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	NM_018097		53	242	0	0	0	1	0	53	242					G	42853482	A	G	42853482	3	3	79	1	0	0	0	0	1	0	0	0	6996	391	14	4	285	4	HAUS2	15	42853482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29814	42853482	59677910	15275	25592											
CDAN1	146059	broad.mit.edu	37	chr15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcccccagcaccaccaGggctctgacacatctagggt	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	516					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCACCACCAGGGCTCTGACA	0.527																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1546-1548)cCt>cTt		codanin 1							33	36	35					15																	43024010		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43024010G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1547C>T	15.37:g.43024010G>A	ENSP00000348564:p.Pro516Leu						p.P516L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	11	1570	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	516					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1547C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	g	19.04	3.749927	0.69533	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	5.97	3.08	0.35506	.	0.100299	0.64402	N	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88797	0.3282	10	0.72032	D	0.01	-3.2241	8.6882	0.34251	0.1292:0.0:0.746:0.1248	.	516	Q8IWY9	CDAN1_HUMAN	L	516;514	ENSP00000348564:P516L	ENSP00000267892:P514L	P	-	2	0	CDAN1	40811302	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	6.110000	0.71535	0.417000	0.25871	-0.141000	0.14075	CCT		0.527	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		62	247	0	0	0	1	0	62	247					A	43024010	G	A	43024010	3	1	79	1	0	0	0	0	1	0	0	0	3063	1000	35	2	2208	2	CDAN1	15	43024010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170528	43024010	59507382	15276	25593											
CDAN1	146059	broad.mit.edu	37	chr15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttagttcagggtcgctgtcCttggcagtcaccatcctccg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	341					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTCGCTGTCCTTGGCAGTCA	0.493																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1021-1023)aaG>aaT		codanin 1							36	36	36					15																	43027493		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027493C>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1023G>T	15.37:g.43027493C>A	ENSP00000348564:p.Lys341Asn						p.K341N	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	5	1046	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	341					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1023G>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384808	0.25031	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.65	0.31530	.	0.252628	0.45867	D	0.000321	T	0.80358	0.4608	L	0.29908	0.895	0.33438	D	0.581967	P	0.37276	0.589	B	0.39027	0.288	D	0.83626	0.0142	10	0.51188	T	0.08	-9.1438	11.5676	0.50815	0.0:0.7932:0.0:0.2068	.	341	Q8IWY9	CDAN1_HUMAN	N	341;339	ENSP00000348564:K341N	ENSP00000267892:K339N	K	-	3	2	CDAN1	40814785	0.710000	0.27896	0.810000	0.32431	0.414000	0.31173	0.783000	0.26802	0.874000	0.35823	0.561000	0.74099	AAG		0.493	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		13	70	1	0	2.27111e-07	1	2.35674e-07	13	70					A	43027493	C	A	43027493	3	1	79	1	0	0	0	0	1	0	0	0	3063	680	24	3	2756	3	CDAN1	15	43027493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3483	43027493	59503899	15277	25594											
CDAN1	146059	broad.mit.edu	37	chr15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagctccaagaagaggTttggtaccaggttctctaga	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	320					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGAAGAGGTTTGGTACCAG	0.498																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(958-960)aAc>aGc		codanin 1							34	38	36					15																	43027557		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027557T>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.959A>G	15.37:g.43027557T>C	ENSP00000348564:p.Asn320Ser						p.N320S	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	5	982	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	320					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.959A>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525466	0.44969	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.04	4.92	0.64577	.	0.180260	0.64402	D	0.000014	T	0.80297	0.4597	L	0.31207	0.915	0.42507	D	0.992951	B	0.19583	0.037	B	0.18561	0.022	T	0.74551	-0.3628	10	0.33940	T	0.23	-18.465	6.6711	0.23068	0.0:0.1664:0.0:0.8336	.	320	Q8IWY9	CDAN1_HUMAN	S	320;318	ENSP00000348564:N320S	ENSP00000267892:N318S	N	-	2	0	CDAN1	40814849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.021000	0.41020	2.317000	0.78254	0.459000	0.35465	AAC		0.498	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	62	0	0	0	1	0	6	62					C	43027557	T	C	43027557	3	2	79	1	0	0	0	0	1	0	0	0	3063	1725	60	4	2820	4	CDAN1	15	43027557	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	43027557	59503835	15278	25595											
CDAN1	146059	broad.mit.edu	37	chr15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtccggctggggaggggcGaccccaattctggggtggga	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	277					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGAGGGGCGACCCCAATTC	0.577																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(829-831)tCg>tTg		codanin 1							37	41	40					15																	43027821		2199	4284	6483	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027821G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.830C>T	15.37:g.43027821G>A	ENSP00000348564:p.Ser277Leu						p.S277L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	4	853	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	277					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.830C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042707	0.19748	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.68	2.26	0.28386	.	0.396178	0.30667	N	0.009131	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53099	-0.8486	10	0.21540	T	0.41	-0.9898	4.8896	0.13721	0.0897:0.148:0.6104:0.152	.	277	Q8IWY9	CDAN1_HUMAN	L	277;275	ENSP00000348564:S277L	ENSP00000267892:S275L	S	-	2	0	CDAN1	40815113	0.004000	0.15560	0.367000	0.25926	0.071000	0.16799	0.710000	0.25748	0.727000	0.32360	0.561000	0.74099	TCG		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		67	251	0	0	0	1	0	67	251					A	43027821	G	A	43027821	3	1	79	1	0	0	0	0	1	0	0	0	3063	1059	37	1	2953	1	CDAN1	15	43027821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	264	43027821	59503571	15279	25596											
TTBK2	146057	broad.mit.edu	37	chr15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgaagccccaaatctgttCtgcttcctccactaggaggt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	727					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAATCTGTTCTGCTTCCTCC	0.463																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2179-2181)aGa>aTa		tau tubulin kinase 2							154	149	150					15																	43045264		1887	4105	5992	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045264C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2180G>T	15.37:g.43045264C>A	ENSP00000267890:p.Arg727Ile						p.R727I	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2288	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	727					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2180G>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.66	5.66	0.87406	.	0.103999	0.51477	D	0.000086	T	0.52468	0.1736	L	0.54323	1.7	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.54312	0.748;0.383	T	0.53746	-0.8395	10	0.72032	D	0.01	.	13.9765	0.64277	0.0:0.9278:0.0:0.0722	.	658;727	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	727;657;1132	ENSP00000267890:R727I	ENSP00000263802:R1132I	R	-	2	0	TTBK2	40832556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.964000	0.40462	2.661000	0.90470	0.655000	0.94253	AGA		0.463	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		67	682	1	0	1.7104e-27	1	1.9812e-27	67	682					A	43045264	C	A	43045264	3	1	79	1	0	0	0	0	1	0	0	0	16731	913	32	3	1562	3	TTBK2	15	43045264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17443	43045264	59486128	15280	25597											
TTBK2	146057	broad.mit.edu	37	chr15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaagcagcagtaggaGgaccctctgcagaaagtgct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	625					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGTAGGAGGACCCTCTGC	0.483																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1873-1875)cCt>cAt		tau tubulin kinase 2							115	111	112					15																	43067457		1871	4110	5981	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067457G>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1874C>A	15.37:g.43067457G>T	ENSP00000267890:p.Pro625His						p.P625H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	1982	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	625					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1874C>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685987	0.14973	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37411	1.2	5.77	5.77	0.91146	.	0.411457	0.25587	N	0.029660	T	0.33962	0.0881	L	0.51422	1.61	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.05666	-1.0871	10	0.39692	T	0.17	.	13.1575	0.59527	0.0:0.16:0.84:0.0	.	556;625	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	625;555;1030	ENSP00000267890:P625H	ENSP00000263802:P1030H	P	-	2	0	TTBK2	40854749	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	1.884000	0.39668	2.726000	0.93360	0.650000	0.86243	CCT		0.483	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		100	491	1	0	1.25848e-56	1	1.57502e-56	100	491					T	43067457	G	T	43067457	3	4	79	1	0	0	0	0	1	0	0	0	16731	1000	35	3	1872	3	TTBK2	15	43067457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22193	43067457	59463935	15281	25598											
UBR1	197131	broad.mit.edu	37	chr15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatccaggaaccaagacGcaaagcaaatttctgatgag	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	316					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAACCAAGACGCAAAGCAAAT	0.348																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(946-948)Cgt>Tgt		ubiquitin protein ligase E3 component n-recognin 1							79	78	79					15																	43351939		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43351939G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.946C>T	15.37:g.43351939G>A	ENSP00000290650:p.Arg316Cys					UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	8	1024	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	316					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.946C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505141	0.26949	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72051	0.19;-0.62	5.27	5.27	0.74061	.	0.051151	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39147	1.195	0.58432	D	0.999999	B;B	0.27450	0.134;0.179	B;B	0.17722	0.016;0.019	T	0.60900	-0.7171	10	0.56958	D	0.05	-24.1461	12.402	0.55418	0.0763:0.0:0.9237:0.0	.	316;316	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	316	ENSP00000290650:R316C;ENSP00000371612:R316C	ENSP00000290650:R316C	R	-	1	0	UBR1	41139231	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	5.971000	0.70440	2.746000	0.94184	0.561000	0.74099	CGT		0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		56	251	0	0	0	1	0	56	251					A	43351939	G	A	43351939	3	1	79	1	0	0	0	0	1	0	0	0	16955	1087	38	1	4463	1	UBR1	15	43351939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284482	43351939	59179453	15282	25599											
EPB42	2038	broad.mit.edu	37	chr15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtactccatgcgctgaGcctcattcttcaggaacaca	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000441366.2	-	4	683	c.458C>T	c.(457-459)gCt>gTt	p.A153V	EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000300215.3_Missense_Mutation_p.A183V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	153					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CATGCGCTGAGCCTCATTCTT	0.577																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(547-549)gCt>gTt		erythrocyte membrane protein band 4.2							159	125	137					15																	43503705		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43503705G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.458C>T	15.37:g.43503705G>A	ENSP00000396616:p.Ala153Val					EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000441366.2_Missense_Mutation_p.A153V	p.A183V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	1005	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	153					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.548C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810516	0.50421	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87256	-1.82;-2.23;-1.82	5.84	4.91	0.64330	.	0.164522	0.53938	N	0.000053	D	0.83871	0.5348	M	0.64080	1.96	0.30097	N	0.807804	B;P;P	0.45986	0.023;0.87;0.476	B;B;B	0.42138	0.054;0.377;0.209	T	0.80329	-0.1428	10	0.30078	T	0.28	-4.773	8.7641	0.34692	0.0803:0.1502:0.7694:0.0	.	75;183;153	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	V	183;75;153;153	ENSP00000300215:A183V;ENSP00000444699:A75V;ENSP00000396616:A153V	ENSP00000300215:A183V	A	-	2	0	EPB42	41290997	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	1.926000	0.40084	1.460000	0.47911	0.655000	0.94253	GCT		0.577	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		16	408	0	0	0	1	0	16	408					A	43503705	G	A	43503705	3	1	79	1	0	0	0	0	1	0	0	0	5176	971	34	2	1657	2	EPB42	15	43503705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151766	43503705	59027687	15283	25600											
TGM5	9333	broad.mit.edu	37	chr15	43527084	43527084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtctgttgacaggtaCtggctgtactgggaatagga	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	586					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1756-1758)caG>caA		transglutaminase 5	L-Glutamine(DB00130)						132	122	125					15																	43527084		2203	4299	6502	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527084C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1758G>A	15.37:g.43527084C>T						TGM5_ENST00000349114.4_Silent_p.Q504Q	p.Q586Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	11	1765	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	586					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1758G>A	CCDS32212.1																																																																																				0.473	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		56	301	0	0	0	1	0	56	301					T	43527084	C	T	43527084	2	4	79	1	0	0	0	0	0	0	0	1	15885	564	20	2		2	TGM5	15	43527084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23379	43527084	59004308	15284	25601											
TGM7	116179	broad.mit.edu	37	chr15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatatcttttaggaccagCatggacctccctgtctcttc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	597					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1789-1791)atG>atT		transglutaminase 7	L-Glutamine(DB00130)						99	83	88					15																	43571363		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571363C>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1791G>T	15.37:g.43571363C>A	ENSP00000389466:p.Met597Ile						p.M597I	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	11	1795	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	597						Missense_Mutation	SNP	ENST00000452443.2	37	c.1791G>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137116	0.09032	.	.	ENSG00000159495	ENST00000452443	T	0.27557	1.66	5.41	2.18	0.27775	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.464340	0.24645	N	0.036766	T	0.10423	0.0255	N	0.04508	-0.205	0.24677	N	0.99338	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.14252	T	0.57	-12.4081	3.1494	0.06483	0.1786:0.5559:0.1608:0.1046	.	597	Q96PF1	TGM7_HUMAN	I	597	ENSP00000389466:M597I	ENSP00000389466:M597I	M	-	3	0	TGM7	41358655	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	-0.187000	0.09656	0.140000	0.18849	0.650000	0.86243	ATG		0.547	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		32	162	1	0	1.39806e-14	1	1.52044e-14	32	162					A	43571363	C	A	43571363	3	1	79	1	0	0	0	0	1	0	0	0	15887	710	25	3	353	3	TGM7	15	43571363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	43571363	58960029	15285	25602											
TGM7	116179	broad.mit.edu	37	chr15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatccccttccctgatgGccttcacagaggcagggcca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	381					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1141-1143)gCc>gTc		transglutaminase 7	L-Glutamine(DB00130)						47	39	42					15																	43574251		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574251G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1142C>T	15.37:g.43574251G>A	ENSP00000389466:p.Ala381Val						p.A381V	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	9	1146	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	381						Missense_Mutation	SNP	ENST00000452443.2	37	c.1142C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258926	0.95368	.	.	ENSG00000159495	ENST00000452443	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.94306	3.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.87394	0.2365	10	0.87932	D	0	-15.8349	16.4717	0.84113	0.0:0.0:1.0:0.0	.	381	Q96PF1	TGM7_HUMAN	V	381	ENSP00000389466:A381V	ENSP00000389466:A381V	A	-	2	0	TGM7	41361543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.487000	0.83934	0.655000	0.94253	GCC		0.607	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		13	126	0	0	0	1	0	13	126					A	43574251	G	A	43574251	3	1	79	1	0	0	0	0	1	0	0	0	15887	1203	42	2	1010	2	TGM7	15	43574251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2888	43574251	58957141	15286	25603											
LCMT2	9836	broad.mit.edu	37	chr15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaactgcctatttggCtgcctttccattcagagtca	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	403					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1207-1209)aGc>aTc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						106	111	109					15																	43621480		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621480C>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1208G>T	15.37:g.43621480C>A	ENSP00000307214:p.Ser403Ile					LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	p.S403I	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1323	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	403					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1208G>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.838980	0.16891	.	.	ENSG00000168806	ENST00000305641	T	0.74315	-0.83	4.99	1.83	0.25207	.	0.643115	0.16492	N	0.212070	T	0.52306	0.1726	N	0.14661	0.345	0.58432	D	0.999998	B	0.18610	0.029	B	0.16722	0.016	T	0.31364	-0.9946	10	0.33940	T	0.23	-10.8025	5.1773	0.15141	0.2037:0.6553:0.0:0.1411	.	403	O60294	LCMT2_HUMAN	I	403	ENSP00000307214:S403I	ENSP00000307214:S403I	S	-	2	0	LCMT2	41408772	0.188000	0.23250	0.942000	0.38095	0.706000	0.40770	0.084000	0.14891	0.274000	0.22072	0.655000	0.94253	AGC		0.532	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		106	447	1	0	9.91269e-35	1	1.18019e-34	106	447					A	43621480	C	A	43621480	3	1	79	1	0	0	0	0	1	0	0	0	8710	797	28	3	856	3	LCMT2	15	43621480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47229	43621480	58909912	15287	25604											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggttctctggtgaatgAtaaggcttgagctctgattg	14	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	750					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGGTGAATGATAAGGCTTGA	0.423																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(2248-2250)aTc>aGc		zinc finger and SCAN domain containing 29							126	120	122					15																	43653581		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653581A>C	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2249T>G	15.37:g.43653581A>C	ENSP00000380174:p.Ile750Ser					ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S	p.I750S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	2383	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	750					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.2249T>G	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750813	0.49257	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.37584	1.19;1.19	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081571	0.52532	D	0.000068	T	0.22781	0.0550	N	0.04655	-0.195	0.37129	D	0.901151	P;B	0.46220	0.874;0.145	P;P	0.47786	0.542;0.557	T	0.18967	-1.0320	10	0.48119	T	0.1	-11.3561	8.3719	0.32421	0.8254:0.0:0.0:0.1746	.	361;750	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	S	750;361	ENSP00000380174:I750S;ENSP00000380170:I361S	ENSP00000380170:I361S	I	-	2	0	ZSCAN29	41440873	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.242000	0.43106	2.168000	0.68352	0.533000	0.62120	ATC		0.423	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		118	485	0	0	0	1	0	118	485					C	43653581	A	C	43653581	3	2	79	1	0	0	0	0	1	0	0	0	18289	333	12	4	313	4	ZSCAN29	15	43653581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32101	43653581	58877811	15288	25605											
TUBGCP4	27229	broad.mit.edu	37	chr15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcgaagtgcactggaAaagtaagtcatggcttaact	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000260383.7	+	6	773	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E173D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	173					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)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(517-519)gaA>gaC		tubulin, gamma complex associated protein 4							80	82	82					15																	43672359		1884	4107	5991	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43672359A>C	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.519A>C	15.37:g.43672359A>C	ENSP00000260383:p.Glu173Asp					TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E173D	p.E173D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	6	759	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	173					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.519A>C		.	.	.	.	.	.	.	.	.	.	A	23.8	4.456013	0.84209	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08370	3.1;3.1	5.72	4.59	0.56863	.	0.041945	0.85682	D	0.000000	T	0.17534	0.0421	M	0.61703	1.905	0.49687	D	0.99981	D;D	0.55385	0.971;0.964	P;P	0.53490	0.727;0.606	T	0.00626	-1.1638	10	0.45353	T	0.12	-10.5663	11.0935	0.48130	0.9276:0.0:0.0724:0.0	.	173;173	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	173;37	ENSP00000260383:E173D;ENSP00000382387:E37D	ENSP00000260383:E173D	E	+	3	2	TUBGCP4	41459651	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.748000	0.47483	1.101000	0.41535	0.533000	0.62120	GAA		0.448	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		32	183	0	0	0	1	0	32	183					C	43672359	A	C	43672359	3	2	79	1	0	0	0	0	1	0	0	0	16822	11	1	4	541	4	TUBGCP4	15	43672359	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18778	43672359	58859033	15289	25606											
TUBGCP4	27229	broad.mit.edu	37	chr15	43692416	43692416	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataatcttcagtactatctCcaggtctgtgctaagagatg	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000260383.7	+	14	1850	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L531L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	532					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)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1591-1593)ctC>ctT		tubulin, gamma complex associated protein 4							134	132	133					15																	43692416		1923	4131	6054	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43692416C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1596C>T	15.37:g.43692416C>T						TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Silent_p.L532L	p.L531L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	14	1833	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	532					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.1593C>T																																																																																					0.443	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		54	289	0	0	0	1	0	54	289					T	43692416	C	T	43692416	2	4	79	1	0	0	0	0	0	0	0	1	16822	842	30	2		2	TUBGCP4	15	43692416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20057	43692416	58838976	15290	25607											
TUBGCP4	27229	broad.mit.edu	37	chr15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagactttgaaagcatcCgattggctcatgaccacttc	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					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)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1669-1671)Cga>Tga		tubulin, gamma complex associated protein 4							135	127	129					15																	43693986		1907	4130	6037	SO:0001587	stop_gained	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43693986C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1672C>T	15.37:g.43693986C>T	ENSP00000260383:p.Arg558*					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*	p.R557*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	15	1909	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	558					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.1669C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA		0.423	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		77	358	0	0	0	1	0	77	358					T	43693986	C	T	43693986	4	4	79	1	0	0	0	0	0	1	0	0	16822	644	23	1	1727	1	TUBGCP4	15	43693986	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1570	43693986	58837406	15291	25608											
TP53BP1	7158	broad.mit.edu	37	chr15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcccagaaacaaggtcTtgttgagaggcaaaggccct	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000263801.3	-	24	5429	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1726	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAACAAGGTCTTGTTGAGAGG	0.562								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5176-5178)aAg>aCg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							106	87	93					15																	43705430		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43705430T>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5177A>C	15.37:g.43705430T>G	ENSP00000263801:p.Lys1726Thr					TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	p.K1726T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	24	5429	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1726			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5177A>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392771	0.83011	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	6.03	6.03	0.97812	BRCT (3);	0.159621	0.56097	D	0.000022	D	0.91845	0.7419	L	0.54323	1.7	0.48185	D	0.999607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91443	0.5175	10	0.45353	T	0.12	-18.3041	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1726;1731;1729	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	T	1726;1731;1681;1729	ENSP00000263801:K1726T;ENSP00000371475:K1731T;ENSP00000371470:K1681T;ENSP00000393497:K1729T	ENSP00000263801:K1726T	K	-	2	0	TP53BP1	41492722	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.259000	0.51515	2.308000	0.77769	0.533000	0.62120	AAG		0.562	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			42	190	0	0	0	1	0	42	190					G	43705430	T	G	43705430	3	3	79	1	0	0	0	0	1	0	0	0	16436	1609	56	4	761	4	TP53BP1	15	43705430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11444	43705430	58825962	15292	25609											
TP53BP1	7158	broad.mit.edu	37	chr15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccttgctccaaggAcaggatgacagccattcgct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000263801.3	-	22	5017	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1589	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCCAAGGACAGGATGACA	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4765-4767)Tcc>Ccc	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							185	156	166					15																	43708516		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43708516A>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4765T>C	15.37:g.43708516A>G	ENSP00000263801:p.Ser1589Pro					TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	p.S1589P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	22	5017	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1589					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4765T>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442899	0.83993	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	5.57	0.84162	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.87578	0.993;0.998;0.996;0.996	T	0.63712	-0.6575	10	0.51188	T	0.08	-9.0154	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1594;1589;1594;1594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1589;1594;1544;1594	ENSP00000263801:S1589P;ENSP00000371475:S1594P;ENSP00000371470:S1544P;ENSP00000393497:S1594P	ENSP00000263801:S1589P	S	-	1	0	TP53BP1	41495808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.745000	0.74860	2.247000	0.74100	0.482000	0.46254	TCC		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			78	343	0	0	0	1	0	78	343					G	43708516	A	G	43708516	3	3	79	1	0	0	0	0	1	0	0	0	16436	275	10	4	1181	4	TP53BP1	15	43708516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3086	43708516	58822876	15293	25610											
TP53BP1	7158	broad.mit.edu	37	chr15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccttcgcccacgcccaCgaggcgtgactggagccttc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000263801.3	-	20	4439	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1396					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCACGCCCACGAGGCGTGAC	0.572								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4186-4188)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							112	100	104					15																	43713271		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43713271C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4187G>A	15.37:g.43713271C>T	ENSP00000263801:p.Arg1396His					TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	p.R1396H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4439	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1396					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4187G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124623	0.77436	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.16597	2.36;2.36;2.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.982;0.992;0.992	T	0.04522	-1.0945	10	0.72032	D	0.01	-11.394	19.5806	0.95465	0.0:1.0:0.0:0.0	.	1401;1396;1401;1401	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1396;1401;1401	ENSP00000263801:R1396H;ENSP00000371475:R1401H;ENSP00000393497:R1401H	ENSP00000263801:R1396H	R	-	2	0	TP53BP1	41500563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.686000	0.91538	0.650000	0.86243	CGT		0.572	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			124	537	0	0	0	1	0	124	537					T	43713271	C	T	43713271	3	4	79	1	0	0	0	0	1	0	0	0	16436	536	19	1	1767	1	TP53BP1	15	43713271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	43713271	58818121	15294	25611											
MAP1A	4130	broad.mit.edu	37	chr15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcccttggagaagcagAggagcggtgccttagcccag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000300231.5	+	4	3392	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1219G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	981					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3655-3657)gAg>gGg		microtubule-associated protein 1A	Estramustine(DB01196)						112	115	114					15																	43816613		2065	4197	6262	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816613A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2942A>G	15.37:g.43816613A>G	ENSP00000300231:p.Glu981Gly					MAP1A_ENST00000300231.5_Missense_Mutation_p.E981G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G	p.E1219G			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	3687	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	981					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3656A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087952	0.36855	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02032	4.5;4.49;4.49	5.1	5.1	0.69264	.	.	.	.	.	T	0.13200	0.0320	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00249	-1.1879	9	0.66056	D	0.02	-20.7677	15.0596	0.71942	1.0:0.0:0.0:0.0	.	981	P78559	MAP1A_HUMAN	G	1219;981;981	ENSP00000371462:E1219G;ENSP00000382380:E981G;ENSP00000300231:E981G	ENSP00000300231:E981G	E	+	2	0	MAP1A	41603905	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	8.729000	0.91490	2.137000	0.66172	0.533000	0.62120	GAG		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		118	581	0	0	0	1	0	118	581					G	43816613	A	G	43816613	3	3	79	1	0	0	0	0	1	0	0	0	9268	304	11	4	2944	4	MAP1A	15	43816613	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103342	43816613	58714779	15295	25612											
MAP1A	4130	broad.mit.edu	37	chr15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcaggagagcccacaGgcccaattctgggagcagaa	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000300231.5	+	4	3778	c.3328G>A	c.(3328-3330)Ggc>Agc	p.G1110S	MAP1A_ENST00000382031.1_Missense_Mutation_p.G1348S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1110					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4042-4044)Ggc>Agc		microtubule-associated protein 1A	Estramustine(DB01196)						75	79	78					15																	43816999		1926	4110	6036	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816999G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3328G>A	15.37:g.43816999G>A	ENSP00000300231:p.Gly1110Ser					MAP1A_ENST00000300231.5_Missense_Mutation_p.G1110S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S	p.G1348S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4073	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1110					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4042G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047335	0.19827	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.94	3.02	0.34903	.	.	.	.	.	T	0.02119	0.0066	M	0.65975	2.015	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.50276	-0.8847	9	0.09084	T	0.74	-0.3322	3.4006	0.07321	0.1578:0.1335:0.5714:0.1373	.	1110	P78559	MAP1A_HUMAN	S	1348;1110;1110	ENSP00000371462:G1348S;ENSP00000382380:G1110S;ENSP00000300231:G1110S	ENSP00000300231:G1110S	G	+	1	0	MAP1A	41604291	0.039000	0.19947	0.144000	0.22314	0.531000	0.34715	2.172000	0.42463	1.315000	0.45114	0.655000	0.94253	GGC		0.507	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		83	414	0	0	0	1	0	83	414					A	43816999	G	A	43816999	3	1	79	1	0	0	0	0	1	0	0	0	9268	1000	35	2	3330	2	MAP1A	15	43816999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	43816999	58714393	15296	25613											
MAP1A	4130	broad.mit.edu	37	chr15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatgggacaactcgaTactctgcacagacagacatc	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000300231.5	+	4	4267	c.3817T>C	c.(3817-3819)Tac>Cac	p.Y1273H	MAP1A_ENST00000382031.1_Missense_Mutation_p.Y1511H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1273					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4531-4533)Tac>Cac		microtubule-associated protein 1A	Estramustine(DB01196)						94	105	101					15																	43817488		2146	4257	6403	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817488T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3817T>C	15.37:g.43817488T>C	ENSP00000300231:p.Tyr1273His					MAP1A_ENST00000300231.5_Missense_Mutation_p.Y1273H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H	p.Y1511H			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4562	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1273					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4531T>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639184	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.89	2.45	0.29901	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	9	0.15952	T	0.53	-2.1529	1.6221	0.02716	0.1669:0.1003:0.3468:0.3861	.	1273	P78559	MAP1A_HUMAN	H	1511;1273;1273	ENSP00000371462:Y1511H;ENSP00000382380:Y1273H;ENSP00000300231:Y1273H	ENSP00000300231:Y1273H	Y	+	1	0	MAP1A	41604780	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.119000	0.15626	0.855000	0.35359	0.460000	0.39030	TAC		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		52	263	0	0	0	1	0	52	263					C	43817488	T	C	43817488	3	2	79	1	0	0	0	0	1	0	0	0	9268	1406	49	4	3819	4	MAP1A	15	43817488	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	489	43817488	58713904	15297	25614											
MAP1A	4130	broad.mit.edu	37	chr15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggggctagaggtggagCgctggcttgctgaatcacca	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000300231.5	+	4	5761	c.5311C>T	c.(5311-5313)Cgc>Tgc	p.R1771C	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2009C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1771					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6025-6027)Cgc>Tgc		microtubule-associated protein 1A	Estramustine(DB01196)						84	86	86					15																	43818982		1973	4150	6123	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818982C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5311C>T	15.37:g.43818982C>T	ENSP00000300231:p.Arg1771Cys					MAP1A_ENST00000300231.5_Missense_Mutation_p.R1771C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C	p.R2009C			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6056	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1771					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6025C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006320	0.35415	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01947	4.54;4.54;4.55	4.46	4.46	0.54185	.	0.000000	0.34314	N	0.004061	T	0.04048	0.0113	L	0.32530	0.975	0.43512	D	0.995775	D	0.69078	0.997	P	0.52710	0.707	T	0.48387	-0.9040	10	0.72032	D	0.01	-0.4217	9.7751	0.40614	0.0:0.9038:0.0:0.0962	.	1771	P78559	MAP1A_HUMAN	C	2009;1771;1771	ENSP00000371462:R2009C;ENSP00000382380:R1771C;ENSP00000300231:R1771C	ENSP00000300231:R1771C	R	+	1	0	MAP1A	41606274	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	2.321000	0.78463	0.455000	0.32223	CGC		0.587	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		115	618	0	0	0	1	0	115	618					T	43818982	C	T	43818982	3	4	79	1	0	0	0	0	1	0	0	0	9268	768	27	1	5313	1	MAP1A	15	43818982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1494	43818982	58712410	15298	25615											
PPIP5K1	9677	broad.mit.edu	37	chr15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcccatccaaagctggaGattttctagcttcagcatgg	8	12	2	1	rs201054366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000396923.3	-	8	945	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	275					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(823-825)tCt>tAt		diphosphoinositol pentakisphosphate kinase 1																																				SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43873540G>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.824C>A	15.37:g.43873540G>T	ENSP00000380129:p.Ser275Tyr					PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR	p.S275Y	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			9	1006	-			275					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.824C>A	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216593	0.79352	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.52295	0.68;0.72;1.33;0.72;0.67;0.67;0.68;1.33	4.74	4.74	0.60224	.	0.059970	0.64402	D	0.000002	T	0.77322	0.4113	M	0.93720	3.45	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;1.0;1.0	D	0.84384	0.0551	10	0.87932	D	0	-13.8522	17.9907	0.89168	0.0:0.0:1.0:0.0	.	275;275;275;275	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Y	275;275;275;275;275;275;275;275;275;275;276	ENSP00000371309:S275Y;ENSP00000353446:S275Y;ENSP00000353253:S275Y;ENSP00000334779:S275Y;ENSP00000380129:S275Y;ENSP00000400887:S275Y;ENSP00000371303:S275Y;ENSP00000308773:S275Y	ENSP00000304750:S275Y	S	-	2	0	PPIP5K1	41660832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.444000	0.82710	0.644000	0.83932	TCT		0.493	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		87	440	1	0	6.34794e-51	1	7.87186e-51	87	440					T	43873540	G	T	43873540	3	4	79	1	0	0	0	0	1	0	0	0	12379	942	33	3	3693	3	PPIP5K1	15	43873540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54558	43873540	58657852	15299	25616											
STRC	161497	broad.mit.edu	37	chr15	43897593	43897593	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatagtctgtccatcaactGgatcctattacagcaatttg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43897593G>A	ENST00000450892.2	-	19	3876	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1267					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCATCAACTGGATCCTATTA	0.532																																						ENST00000450892.2																			0				skin(4)	4						c.(3799-3801)Cag>Tag		stereocilin							35	27	30					15																	43897593		2199	4297	6496	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43897593G>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3799C>T	15.37:g.43897593G>A	ENSP00000401513:p.Gln1267*					STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	p.Q1267*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	19	3876	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1267						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.3799C>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	38	7.279096	0.98182	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.46	3.59	0.41128	.	0.845936	0.10432	N	0.675342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.6165	8.9018	0.35499	0.1737:0.0:0.8263:0.0	.	.	.	.	X	1267;1267;494	.	ENSP00000299992:Q1267X	Q	-	1	0	STRC	41684885	0.133000	0.22466	0.020000	0.16555	0.230000	0.25150	1.498000	0.35660	0.795000	0.33922	0.556000	0.70494	CAG		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		3	49	0	0	0	1	0	3	49					A	43897593	G	A	43897593	4	1	79	1	0	0	0	0	0	1	0	0	15380	1357	47	2	1572	2	STRC	15	43897593	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24053	43897593	58633799	15300	25617											
STRC	161497	broad.mit.edu	37	chr15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttggggtaggggggcCcccaggaactaaggctccca	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	152					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAGGGGGGCCCCCAGGAACT	0.637																																						ENST00000450892.2																			0				skin(4)	4						c.(454-456)Ggc>Agc		stereocilin							44	65	58					15																	43910165		2196	4296	6492	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43910165C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.454G>A	15.37:g.43910165C>T	ENSP00000401513:p.Gly152Ser					STRC_ENST00000541030.1_5'UTR	p.G152S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	531	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	152						Missense_Mutation	SNP	ENST00000450892.2	37	c.454G>A	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795824	0.70452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78364	-1.17	5.05	5.05	0.67936	.	0.295993	0.27518	N	0.019002	T	0.66538	0.2799	N	0.24115	0.695	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.66810	-0.5829	10	0.31617	T	0.26	-12.2091	13.9904	0.64362	0.0:1.0:0.0:0.0	.	152;152	E9PBT5;Q7RTU9	.;STRC_HUMAN	S	152;152;152;92	ENSP00000401513:G152S	ENSP00000299992:G152S	G	-	1	0	STRC	41697457	0.541000	0.26417	0.574000	0.28523	0.855000	0.48748	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	GGC		0.637	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		55	494	0	0	0	1	0	55	494					T	43910165	C	T	43910165	3	4	79	1	0	0	0	0	1	0	0	0	15380	623	22	2	4985	2	STRC	15	43910165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12572	43910165	58621227	15301	25618											
CKMT1A	548596	broad.mit.edu	37	chr15	43990318	43990318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggacttcgggcaggagTgcacatcaaactgcccctgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	ENST00000413453.2	+	7	1507	c.983T>C	c.(982-984)gTg>gCg	p.V328A	CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	328	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532																																						ENST00000413453.2																			0				lung(4)	4						c.(982-984)gTg>gCg		creatine kinase, mitochondrial 1A	Creatine(DB00148)						82	69	73					15																	43990318		2198	4278	6476	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43990318T>C	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.983T>C	15.37:g.43990318T>C	ENSP00000406577:p.Val328Ala					STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A	p.V328A			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1507	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	328			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.983T>C	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943072	0.73672	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.37058	1.22;1.22	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54275	-0.8318	7	0.66056	D	0.02	-3.3673	12.4039	0.55428	0.0:0.0:0.0:1.0	.	.	.	.	A	359;328;328	ENSP00000413165:V328A;ENSP00000406577:V328A	ENSP00000406577:V328A	V	+	2	0	CKMT1A	41777610	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.615000	0.83006	1.312000	0.45043	0.327000	0.21459	GTG		0.532	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			100	454	0	0	0	1	0	100	454					C	43990318	T	C	43990318	3	2	79	1	0	0	0	0	1	0	0	0	3458	1696	59	4	1009	4	CKMT1A	15	43990318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80153	43990318	58541074	15302	25619											
PDIA3	2923	broad.mit.edu	37	chr15	44057696	44057696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactaacaagtttgaggaCaagactgtggcatatacaga	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44057696C>T	ENST00000300289.5	+	6	799	c.651C>T	c.(649-651)gaC>gaT	p.D217D	PDIA3_ENST00000538521.1_Silent_p.D197D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	217				D -> Y (in Ref. 1; BAA03759). {ECO:0000305}.	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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGTTTGAGGACAAGACTGTGG	0.358																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(649-651)gaC>gaT		protein disulfide isomerase family A, member 3							119	119	119					15																	44057696		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44057696C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.651C>T	15.37:g.44057696C>T						PDIA3_ENST00000538521.1_Silent_p.D197D	p.D217D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	6	799	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	217	D -> Y (in Ref. 1; BAA03759).				Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.651C>T	CCDS10101.1																																																																																				0.358	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		18	707	0	0	0	1	0	18	707					T	44057696	C	T	44057696	2	4	79	1	0	0	0	0	0	0	0	1	11711	477	17	2		2	PDIA3	15	44057696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67378	44057696	58473696	15303	25620											
PDIA3	2923	broad.mit.edu	37	chr15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgctatcagaactgCtaaaggagagaagtttgtca	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	331					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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(991-993)gCt>gAt		protein disulfide isomerase family A, member 3							123	129	127					15																	44059072		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44059072C>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.992C>A	15.37:g.44059072C>A	ENSP00000300289:p.Ala331Asp					PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	p.A331D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	8	1140	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	331					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.992C>A	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391325	0.42410	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.30714	1.52;1.52	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.143545	0.64402	D	0.000007	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.004;0.004	T	0.14952	-1.0454	10	0.18276	T	0.48	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	311;331	G5EA52;P30101	.;PDIA3_HUMAN	D	331;306;105;311	ENSP00000300289:A331D;ENSP00000438260:A311D	ENSP00000300289:A331D	A	+	2	0	PDIA3	41846364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.937000	0.56575	2.683000	0.91414	0.655000	0.94253	GCT		0.428	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		27	573	1	0	1.75199e-13	1	1.89187e-13	27	573					A	44059072	C	A	44059072	3	1	79	1	0	0	0	0	1	0	0	0	11711	797	28	3	1022	3	PDIA3	15	44059072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1376	44059072	58472320	15304	25621											
PDIA3	2923	broad.mit.edu	37	chr15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaagatggatgccacaGccaatgatgtgccttctcca	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(1312-1314)Gcc>Acc		protein disulfide isomerase family A, member 3							76	68	70					15																	44062493		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44062493G>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1312G>A	15.37:g.44062493G>A	ENSP00000300289:p.Ala438Thr					PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	p.A438T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	11	1460	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	438			Thioredoxin 2.		Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.1312G>A	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477466	0.96291	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.23147	1.92;1.92	6.04	6.04	0.98038	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.089021	0.85682	D	0.000000	T	0.51278	0.1665	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.43940	-0.9360	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	418;438	G5EA52;P30101	.;PDIA3_HUMAN	T	438;413;212;418	ENSP00000300289:A438T;ENSP00000438260:A418T	ENSP00000300289:A438T	A	+	1	0	PDIA3	41849785	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC		0.398	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		50	227	0	0	0	1	0	50	227					A	44062493	G	A	44062493	3	1	79	1	0	0	0	0	1	0	0	0	11711	971	34	2	1354	2	PDIA3	15	44062493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3421	44062493	58468899	15305	25622											
SERINC4	25764	broad.mit.edu	37	chr15	44088365	44088365	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacctgaaactcataGctgtaaaccttgacaatcca	4	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	ENST00000406925.1	+	0	26				RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000249714.3_Silent_p.S132S|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V|SERINC4_ENST00000319327.6_Silent_p.S376S			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GAAACTCATAGCTGTAAACCT	0.468																																						ENST00000406925.1																			0													huntingtin interacting protein K							116	113	114					15																	44088365		2198	4298	6496			25764							g.chr15:44088365G>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.-4086G>A	15.37:g.44088365G>A						SERINC4_ENST00000249714.3_Silent_p.S132S|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000319327.6_Silent_p.S376S|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V							GBM - Glioblastoma multiforme(94;8.1e-07)	0	26	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Translation_Start_Site	SNP	ENST00000406925.1	37		CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877537	0.33162	.	.	ENSG00000184716	ENST00000299969	T	0.26518	1.73	5.7	3.78	0.43462	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	B	0.31077	0.307	B	0.28991	0.097	T	0.09618	-1.0666	8	0.02654	T	1	1.8637	10.4519	0.44526	0.0:0.2839:0.5776:0.1386	.	302	A6NM42	.	V	302	ENSP00000299969:A302V	ENSP00000299969:A302V	A	-	2	0	SERINC4	41875657	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	1.138000	0.31491	0.711000	0.32018	0.655000	0.94253	GCT		0.468	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		55	317	0	0	0	1	0	55	317					A	44088365	G	A	44088365	1	1	79	1	0	1	0	0	0	0	0	0	14132	962	34	2		2	SERINC4	15	44088365	De_novo_Start_OutOfFrame	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25872	44088365	58443027	15306	25623											
FRMD5	84978	broad.mit.edu	37	chr15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaacaacaaacccaaAaggagtgaaggccagaaatg	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000417257.1	-	8	855	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V|FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	227	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(679-681)Ttt>Gtt		FERM domain containing 5							150	124	133					15																	44184228		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44184228A>C	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.679T>G	15.37:g.44184228A>C	ENSP00000403067:p.Phe227Val					FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V|FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V	p.F227V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	8	855	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	227			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.679T>G	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493163	0.26774	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86432	-2.12;-2.12;-2.12	4.48	4.48	0.54585	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.137493	0.64402	D	0.000020	T	0.78162	0.4240	N	0.19112	0.55	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.23852	0.049;0.049	T	0.75909	-0.3151	10	0.42905	T	0.14	.	13.0247	0.58808	1.0:0.0:0.0:0.0	.	227;227	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	227;227;193	ENSP00000403067:F227V;ENSP00000384142:F227V;ENSP00000399684:F193V	ENSP00000384142:F227V	F	-	1	0	FRMD5	41971520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.341000	0.90046	2.011000	0.59026	0.377000	0.23210	TTT		0.448	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		59	253	0	0	0	1	0	59	253					C	44184228	A	C	44184228	3	2	79	1	0	0	0	0	1	0	0	0	6080	14	1	4	1061	4	FRMD5	15	44184228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95863	44184228	58347164	15307	25624											
FRMD5	84978	broad.mit.edu	37	chr15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatctgggtctacaaagcGgataccaaaatagtctttct	7	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000417257.1	-	2	357	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	61	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(181-183)Cgc>Tgc		FERM domain containing 5							178	169	172					15																	44216429		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44216429G>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.181C>T	15.37:g.44216429G>A	ENSP00000403067:p.Arg61Cys					FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR	p.R61C	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	2	357	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	61			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.181C>T	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430422	0.83776	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	5.46	0.80206	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88666	0.3192	10	0.59425	D	0.04	.	16.8041	0.85621	0.0:0.0:1.0:0.0	.	61	Q7Z6J6	FRMD5_HUMAN	C	61;61;27	ENSP00000403067:R61C;ENSP00000384142:R61C;ENSP00000399684:R27C	ENSP00000384142:R61C	R	-	1	0	FRMD5	42003721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.545000	0.60698	2.572000	0.86782	0.467000	0.42956	CGC		0.428	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		130	591	0	0	0	1	0	130	591					A	44216429	G	A	44216429	3	1	79	1	0	0	0	0	1	0	0	0	6080	1116	39	1	1583	1	FRMD5	15	44216429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32201	44216429	58314963	15308	25625											
CASC4	113201	broad.mit.edu	37	chr15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacgtcctgcttcaggAggaggtggccgagctgcagg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000345795.2	+	1	401	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000299957.6_Missense_Mutation_p.E44A	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	44						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGCTTCAGGAGGAGGTGGCC	0.662																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(130-132)gAg>gCg		cancer susceptibility candidate 4							48	47	47					15																	44581358		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44581358A>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.131A>C	15.37:g.44581358A>C	ENSP00000335063:p.Glu44Ala					CASC4_ENST00000345795.2_Missense_Mutation_p.E44A|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	p.E44A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	1	430	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	44					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.131A>C	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276396	0.95459	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.42	5.42	0.78866	.	0.052169	0.85682	D	0.000000	T	0.68696	0.3029	L	0.53249	1.67	0.58432	D	0.999992	D;D;D	0.71674	0.993;0.998;0.998	P;P;D	0.65987	0.879;0.879;0.94	T	0.64786	-0.6325	9	0.21540	T	0.41	-17.9117	15.44	0.75176	1.0:0.0:0.0:0.0	.	44;44;44	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	44;44;44;44;23	.	ENSP00000299957:E44A	E	+	2	0	CASC4	42368650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.050000	0.60909	0.459000	0.35465	GAG		0.662	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		104	435	0	0	0	1	0	104	435					C	44581358	A	C	44581358	3	2	79	1	0	0	0	0	1	0	0	0	2669	304	11	4	133	4	CASC4	15	44581358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364929	44581358	57950034	15309	25626											
CASC4	113201	broad.mit.edu	37	chr15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggggatgatggtaacgTaggtgagtatgaggcagaca	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_ENST00000345795.2_Intron|CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	386						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GATGGTAACGTAGGTGAGTAT	0.507																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(1156-1158)gTa>gCa		cancer susceptibility candidate 4							139	109	120					15																	44695169		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44695169T>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1157T>C	15.37:g.44695169T>C	ENSP00000299957:p.Val386Ala					CASC4_ENST00000345795.2_Intron|CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA	p.V386A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	9	1456	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	386					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000299957.6	37	c.1157T>C	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299781	0.81136	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.73745	0.3626	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68930	-0.5279	9	0.07813	T	0.8	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	386;386	G5E934;Q6P4E1	.;CASC4_HUMAN	A	386;365	.	ENSP00000299957:V386A	V	+	2	0	CASC4	42482461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GTA		0.507	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1	NM_138423		46	176	0	0	0	1	0	46	176					C	44695169	T	C	44695169	3	2	79	1	0	0	0	0	1	0	0	0	2669	1638	57	4	1191	4	CASC4	15	44695169	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113811	44695169	57836223	15310	25627											
SPG11	80208	broad.mit.edu	37	chr15	44855412	44855412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtgttcgtatgccaaCttgtaatacaggtaaacatc	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000427534.2_3'UTR|SPG11_ENST00000535302.2_Silent_p.K2300K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2413					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGTATGCCAACTTGTAATACA	0.363																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(7237-7239)aaG>aaA		spastic paraplegia 11 (autosomal recessive)							133	121	125					15																	44855412		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44855412C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7239G>A	15.37:g.44855412C>T						SPG11_ENST00000535302.2_Silent_p.K2300K|SPG11_ENST00000427534.2_3'UTR	p.K2413K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	40	7255	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2413					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.7239G>A	CCDS10112.1																																																																																				0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			66	233	0	0	0	1	0	66	233					T	44855412	C	T	44855412	2	4	79	1	0	0	0	0	0	0	0	1	15093	564	20	2		2	SPG11	15	44855412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160243	44855412	57675980	15311	25628											
SPG11	80208	broad.mit.edu	37	chr15	44951421	44951421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcaggaaatataatatGtaggatgacacatttgttga	8	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44951421G>A	ENST00000261866.7	-	3	539	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	175					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATATAATATGTAGGATGACA	0.368																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(523-525)Cat>Tat		spastic paraplegia 11 (autosomal recessive)							104	103	104					15																	44951421		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951421G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.523C>T	15.37:g.44951421G>A	ENSP00000261866:p.His175Tyr					SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y	p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	539	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	175					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.523C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483901	0.26598	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.99	4.13	0.48395	.	0.589894	0.18157	N	0.149885	T	0.75064	0.3799	L	0.55481	1.735	0.09310	N	1	P;P;P;P	0.45827	0.776;0.787;0.867;0.467	B;B;B;B	0.44044	0.306;0.419;0.439;0.244	T	0.67245	-0.5719	10	0.66056	D	0.02	.	11.0246	0.47739	0.1441:0.0:0.8559:0.0	.	175;175;175;175	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Y	175	ENSP00000261866:H175Y;ENSP00000445278:H175Y;ENSP00000396110:H175Y	ENSP00000261866:H175Y	H	-	1	0	SPG11	42738713	0.115000	0.22152	0.004000	0.12327	0.031000	0.12232	1.881000	0.39638	0.890000	0.36211	-0.156000	0.13503	CAT		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			10	359	0	0	0	1	0	10	359					A	44951421	G	A	44951421	3	1	79	1	0	0	0	0	1	0	0	0	15093	1377	48	2	6960	2	SPG11	15	44951421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96009	44951421	57579971	15312	25629											
TRIM69	140691	broad.mit.edu	37	chr15	45050992	45050992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtctcttagccaaGgatatgttggtgagcattca	11	7	2	1	rs372211170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45050992G>T	ENST00000559390.1	+	5	1681	c.753G>T	c.(751-753)aaG>aaT	p.K251N	TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000558173.1_Missense_Mutation_p.K47N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	251					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCTTAGCCAAGGATATGTTGG	0.453																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(139-141)aaG>aaT		tripartite motif containing 69		G	ASN/LYS,ASN/LYS	1,4395	2.1+/-5.4	0,1,2197	80	69	73		276,753	2.8	1	15		73	0,8596		0,0,4298	no	missense,missense	TRIM69	NM_080745.3,NM_182985.3	94,94	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	92/342,251/501	45050992	1,12991	2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45050992G>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.753G>T	15.37:g.45050992G>T	ENSP00000453177:p.Lys251Asn					TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000559390.1_Missense_Mutation_p.K251N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000561043.1_Intron	p.K47N			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	4886	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	251			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.141G>T	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004820	0.54254	2.27E-4	0.0	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57107	1.07;0.42	5.97	2.82	0.32997	.	0.201253	0.35040	N	0.003492	T	0.57651	0.2068	L	0.36672	1.1	0.32131	N	0.586813	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77004	0.984;0.989;0.959	T	0.61367	-0.7077	10	0.39692	T	0.17	.	8.6543	0.34053	0.194:0.0:0.806:0.0	.	47;92;251	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	N	251;92	ENSP00000332284:K251N;ENSP00000342922:K92N	ENSP00000332284:K251N	K	+	3	2	TRIM69	42838284	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.160000	0.42348	0.296000	0.22592	0.591000	0.81541	AAG		0.453	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			6	163	1	0	0.217242	1	0.217458	6	163					T	45050992	G	T	45050992	3	4	79	1	0	0	0	0	1	0	0	0	16595	991	35	3	767	3	TRIM69	15	45050992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99571	45050992	57480400	15313	25630											
TRIM69	140691	broad.mit.edu	37	chr15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctgatgatcctgagaGgtttgactcaagtgtggctg	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000559390.1	+	8	2007	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R156K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATCCTGAGAGGTTTGACTCA	0.478																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(466-468)aGg>aAg		tripartite motif containing 69							149	149	149					15																	45059546		2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059546G>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1079G>A	15.37:g.45059546G>A	ENSP00000453177:p.Arg360Lys					TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R360K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K	p.R156K			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5212	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	360					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.467G>A	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675339	0.88445	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.58506	0.33;0.33	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.77350	0.4117	M	0.85373	2.75	0.37631	D	0.921682	D;D;D	0.64830	0.965;0.994;0.991	P;D;P	0.63877	0.838;0.919;0.9	T	0.82190	-0.0580	10	0.52906	T	0.07	.	16.8968	0.86102	0.0:0.0:1.0:0.0	.	139;201;360	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	360;201	ENSP00000332284:R360K;ENSP00000342922:R201K	ENSP00000332284:R360K	R	+	2	0	TRIM69	42846838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.784000	0.99039	2.589000	0.87451	0.650000	0.86243	AGG		0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			117	572	0	0	0	1	0	117	572					A	45059546	G	A	45059546	3	1	79	1	0	0	0	0	1	0	0	0	16595	1000	35	2	1105	2	TRIM69	15	45059546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8554	45059546	57471846	15314	25631											
DUOX2	50506	broad.mit.edu	37	chr15	45394056	45394056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcgctgtcatggtccCgcagcatgaagtgaaaatcc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45394056C>T	ENST00000603300.1	-	21	2988	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R929Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	929	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCATGGTCCCGCAGCATGAA	0.587																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2785-2787)cGg>cAg		dual oxidase 2							140	115	124					15																	45394056		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45394056C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2786G>A	15.37:g.45394056C>T	ENSP00000475084:p.Arg929Gln					DUOX2_ENST00000603300.1_Missense_Mutation_p.R929Q	p.R929Q			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	21	3171	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	929			EF-hand 3.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2786G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506816	0.64410	.	.	ENSG00000140279	ENST00000389039	.	.	.	6.08	6.08	0.98989	EF-hand-like domain (1);	0.312746	0.33534	N	0.004807	T	0.29389	0.0732	N	0.22421	0.69	0.49051	D	0.999741	P;P	0.47604	0.812;0.898	B;B	0.35073	0.105;0.195	T	0.06954	-1.0798	9	0.23302	T	0.38	-29.9214	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	929;491	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	929	.	ENSP00000373691:R929Q	R	-	2	0	DUOX2	43181348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.894000	0.99253	0.655000	0.94253	CGG		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		9	327	0	0	0	1	0	9	327					T	45394056	C	T	45394056	3	4	79	1	0	0	0	0	1	0	0	0	4817	652	23	1	1916	1	DUOX2	15	45394056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334510	45394056	57137336	15315	25632											
DUOXA2	405753	broad.mit.edu	37	chr15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgcggagtacgcgaacGcactggagaaggggctgccg	17	12	0	1	rs371428294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	145					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607																																						ENST00000323030.5																			0											c.(433-435)Gca>Aca		dual oxidase maturation factor 2							56	63	61					15																	45408806		2087	4233	6320	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408806G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.433G>A	15.37:g.45408806G>A	ENSP00000319705:p.Ala145Thr						p.A145T	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	718	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	145					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.433G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031029	0.75504	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.62232	0.04	5.58	5.58	0.84498	.	0.106984	0.64402	D	0.000006	T	0.81403	0.4815	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83964	0.0323	10	0.72032	D	0.01	-18.6423	18.5627	0.91107	0.0:0.0:1.0:0.0	.	145	Q1HG44	DOXA2_HUMAN	T	145;100	ENSP00000319705:A145T	ENSP00000319705:A145T	A	+	1	0	DUOXA2	43196098	1.000000	0.71417	0.122000	0.21767	0.005000	0.04900	5.750000	0.68712	2.633000	0.89246	0.655000	0.94253	GCA		0.607	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		60	255	0	0	0	1	0	60	255					A	45408806	G	A	45408806	3	1	79	1	0	0	0	0	1	0	0	0	4819	1087	38	1	447	1	DUOXA2	15	45408806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14750	45408806	57122586	15316	25633											
DUOX1	53905	broad.mit.edu	37	chr15	45431796	45431796	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcccggagcaatgacaCtgtgaggaggggtcaggacc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	463	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATGACACTGTGAGGAGG	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.e13+1		dual oxidase 1							27	24	25					15																	45431796		2198	4298	6496	SO:0001630	splice_region_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45431796C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1389+1C>T	15.37:g.45431796C>T						DUOX1_ENST00000561166.1_Splice_Site_p.T109_splice|DUOX1_ENST00000389037.3_Splice_Site_p.T463_splice	p.T463_splice	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	13	1795	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	463			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Splice_Site	SNP	ENST00000321429.4	37	c.1389_splice	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886650	0.17540	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	5.72	2.71	0.32032	.	0.243293	0.39909	N	0.001234	T	0.52964	0.1767	N	0.25647	0.755	0.32324	N	0.562014	B	0.02656	0.0	B	0.10450	0.005	T	0.55535	-0.8126	10	0.54805	T	0.06	-0.7355	6.0181	0.19615	0.1547:0.6792:0.0:0.1661	.	463	Q9NRD9	DUOX1_HUMAN	I	463	ENSP00000317997:T463I;ENSP00000373689:T463I	ENSP00000317997:T463I	T	+	2	0	DUOX1	43219088	0.017000	0.18338	0.747000	0.31113	0.149000	0.21700	0.147000	0.16202	0.846000	0.35142	0.655000	0.94253	ACT		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	Missense_Mutation	32	152	0	0	0	1	0	32	152					T	45431796	C	T	45431796	5	4	79	1	0	0	0	0	0	0	1	0	4816	579	20	2	1430	2	DUOX1	15	45431796	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22990	45431796	57099596	15317	25634											
DUOX1	53905	broad.mit.edu	37	chr15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaggagtgggagctgcGggagcaggagctgatgagag	19	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	746					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGGAGCTGCGGGAGCAGGAG	0.597																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2236-2238)cGg>cAg		dual oxidase 1							93	98	96					15																	45437193		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45437193G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2237G>A	15.37:g.45437193G>A	ENSP00000317997:p.Arg746Gln					DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q|DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q	p.R746Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	19	2644	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	746					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2237G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723706	0.30593	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	4.81	3.9	0.45041	.	0.255145	0.43260	D	0.000594	T	0.76688	0.4022	L	0.48642	1.525	0.35635	D	0.810526	P	0.46656	0.882	B	0.41332	0.354	T	0.75966	-0.3131	10	0.14252	T	0.57	-18.0719	7.5208	0.27626	0.1912:0.0:0.8088:0.0	.	746	Q9NRD9	DUOX1_HUMAN	Q	746	ENSP00000317997:R746Q;ENSP00000373689:R746Q	ENSP00000317997:R746Q	R	+	2	0	DUOX1	43224485	0.961000	0.32948	0.992000	0.48379	0.898000	0.52572	1.737000	0.38197	1.388000	0.46506	-0.140000	0.14226	CGG		0.597	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		114	525	0	0	0	1	0	114	525					A	45437193	G	A	45437193	3	1	79	1	0	0	0	0	1	0	0	0	4816	1116	39	1	2303	1	DUOX1	15	45437193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5397	45437193	57094199	15318	25635											
DUOX1	53905	broad.mit.edu	37	chr15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgagaactaccggcGccacatcggctgcgtggccg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1043	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACTACCGGCGCCACATCGGC	0.587																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3127-3129)cGc>cAc		dual oxidase 1							56	53	54					15																	45444185		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444185G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3128G>A	15.37:g.45444185G>A	ENSP00000317997:p.Arg1043His					DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H	p.R1043H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	25	3535	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1043			Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3128G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103198	0.94245	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87179	-2.22;-2.22	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.932	D	0.92687	0.6163	10	0.66056	D	0.02	-27.6461	14.3394	0.66614	0.0:0.0:1.0:0.0	.	176;1043	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	1043	ENSP00000317997:R1043H;ENSP00000373689:R1043H	ENSP00000317997:R1043H	R	+	2	0	DUOX1	43231477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.511000	0.98006	2.302000	0.77476	0.655000	0.94253	CGC		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		39	197	0	0	0	1	0	39	197					A	45444185	G	A	45444185	3	1	79	1	0	0	0	0	1	0	0	0	4816	1087	38	1	3218	1	DUOX1	15	45444185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6992	45444185	57087207	15319	25636											
DUOX1	53905	broad.mit.edu	37	chr15	45448079	45448079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacttccgccgccgcagtttCcggggcttctggctgaccca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45448079C>A	ENST00000321429.4	+	29	4061	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1218	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCGCAGTTTCCGGGGCTTCT	0.582																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3652-3654)ttC>ttA		dual oxidase 1							101	96	98					15																	45448079		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45448079C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3654C>A	15.37:g.45448079C>A	ENSP00000317997:p.Phe1218Leu					DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.F1218L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	29	4061	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1218			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3654C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902934	0.72754	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91011	-2.77;-2.77	4.11	3.18	0.36537	Flavoprotein transmembrane component (1);	0.047507	0.85682	D	0.000000	D	0.95686	0.8597	H	0.96889	3.9	0.80722	D	1	D	0.55385	0.971	P	0.62435	0.902	D	0.94539	0.7743	10	0.87932	D	0	-28.569	6.4686	0.21995	0.0:0.7793:0.0:0.2207	.	1218	Q9NRD9	DUOX1_HUMAN	L	1218	ENSP00000317997:F1218L;ENSP00000373689:F1218L	ENSP00000317997:F1218L	F	+	3	2	DUOX1	43235371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.141000	0.31528	1.050000	0.40346	0.563000	0.77884	TTC		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		12	577	1	0	5.50884e-06	1	5.65664e-06	12	577					A	45448079	C	A	45448079	3	1	79	1	0	0	0	0	1	0	0	0	4816	854	30	3	3760	3	DUOX1	15	45448079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3894	45448079	57083313	15320	25637											
DUOX1	53905	broad.mit.edu	37	chr15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaatcatctatggggGcgacaagctggtgagcctga	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1262	Ferric oxidoreductase.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTATGGGGGCGACAAGCTG	0.577																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3784-3786)gGc>gTc		dual oxidase 1							137	120	126					15																	45453117		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45453117G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3785G>T	15.37:g.45453117G>T	ENSP00000317997:p.Gly1262Val					DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.G1262V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	30	4192	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1262			Ferric oxidoreductase.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3785G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487774	0.26686	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85773	-2.03;-2.03	3.47	3.47	0.39725	.	0.341780	0.30869	N	0.008712	T	0.78729	0.4329	L	0.49256	1.55	0.51767	D	0.999938	B	0.31174	0.311	B	0.29524	0.103	T	0.74216	-0.3737	10	0.15952	T	0.53	-26.5883	12.8006	0.57584	0.0:0.0:1.0:0.0	.	1262	Q9NRD9	DUOX1_HUMAN	V	1262	ENSP00000317997:G1262V;ENSP00000373689:G1262V	ENSP00000317997:G1262V	G	+	2	0	DUOX1	43240409	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.581000	0.53914	1.920000	0.55613	0.462000	0.41574	GGC		0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		105	400	1	0	4.10057e-40	1	4.96875e-40	105	400					T	45453117	G	T	45453117	3	4	79	1	0	0	0	0	1	0	0	0	4816	1203	42	3	3895	3	DUOX1	15	45453117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5038	45453117	57078275	15321	25638											
DUOX1	53905	broad.mit.edu	37	chr15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctacttcatctgggtgaCgcggacccagcgtcagtttg	12	11	4	1	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1423					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTGGGTGACGCGGACCCAG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4267-4269)aCg>aTg		dual oxidase 1		C	MET/THR,MET/THR	2,4394	4.2+/-10.8	0,2,2196	99	90	93		4268,4268	4.4	1	15	dbSNP_134	93	0,8596		0,0,4298	yes	missense,missense	DUOX1	NM_017434.3,NM_175940.1	81,81	0,2,6494	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging	1423/1552,1423/1552	45455749	2,12990	2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455749C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4268C>T	15.37:g.45455749C>T	ENSP00000317997:p.Thr1423Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.T1423M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4675	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1423					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4268C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487713	0.84854	4.55E-4	0.0	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95342	-3.68;-3.68	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98119	1.0424	10	0.87932	D	0	-10.2487	14.4383	0.67298	0.0:1.0:0.0:0.0	.	1423	Q9NRD9	DUOX1_HUMAN	M	1423	ENSP00000317997:T1423M;ENSP00000373689:T1423M	ENSP00000317997:T1423M	T	+	2	0	DUOX1	43243041	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	5.894000	0.69806	2.243000	0.73865	0.491000	0.48974	ACG		0.562	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		45	270	0	0	0	1	0	45	270					T	45455749	C	T	45455749	3	4	79	1	0	0	0	0	1	0	0	0	4816	536	19	1	4390	1	DUOX1	15	45455749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2632	45455749	57075643	15322	25639											
DUOX1	53905	broad.mit.edu	37	chr15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgacctcaggaccactatgCtggtatgtcagggcccacca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1468					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GACCACTATGCTGGTATGTCA	0.567											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4402-4404)Ctg>Atg		dual oxidase 1							127	115	119					15																	45455883		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455883C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4402C>A	15.37:g.45455883C>A	ENSP00000317997:p.Leu1468Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.L1468M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4809	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1468					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4402C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094597	0.56075	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95035	-3.59;-3.59	4.36	1.21	0.21127	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.94379	0.7603	10	0.87932	D	0	-13.5525	7.5385	0.27725	0.0:0.674:0.0:0.326	.	1468	Q9NRD9	DUOX1_HUMAN	M	1468	ENSP00000317997:L1468M;ENSP00000373689:L1468M	ENSP00000317997:L1468M	L	+	1	2	DUOX1	43243175	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.069000	0.41481	0.474000	0.27392	0.491000	0.48974	CTG		0.567	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		84	361	1	0	9.34078e-37	1	1.11935e-36	84	361					A	45455883	C	A	45455883	3	1	79	1	0	0	0	0	1	0	0	0	4816	796	28	3	4524	3	DUOX1	15	45455883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	45455883	57075509	15323	25640											
SEMA6D	80031	broad.mit.edu	37	chr15	48055280	48055280	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttcgagaaatcgctgtCgaacataataatttaggcaa	7	7	1	1	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	242	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V242V(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAATCGCTGTCGAACATAATA	0.363																																						ENST00000316364.5																			1	Substitution - coding silent(1)	p.V242V(1)	skin(1)	biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(724-726)gtC>gtT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							83	79	80					15																	48055280		2197	4295	6492	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48055280C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.726C>T	15.37:g.48055280C>T						SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V	p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	9	1165	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	242			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.726C>T	CCDS32225.1																																																																																				0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		26	150	0	0	0	1	0	26	150					T	48055280	C	T	48055280	2	4	79	1	0	0	0	0	0	0	0	1	14092	871	31	1		1	SEMA6D	15	48055280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2599397	48055280	54476112	15324	25641											
SEMA6D	80031	broad.mit.edu	37	chr15	48056061	48056061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggctgtgtattcccgCgtggcccgcatatgtaaaaa	13	10	0	0	rs374731818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTATTCCCGCGTGGCCCGCA	0.493																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(760-762)cgC>cgT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D		C	,,,,,,	1,4395	2.1+/-5.4	0,1,2197	136	133	134		762,762,762,762,762,762,762	-3.7	1	15		134	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA6D	NM_001198999.1,NM_020858.1,NM_024966.2,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	254/1012,254/1012,254/477,254/999,254/1018,254/1074,254/598	48056061	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056061C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.762C>T	15.37:g.48056061C>T						SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R	p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1201	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	254			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.762C>T	CCDS32225.1																																																																																				0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		162	672	0	0	0	1	0	162	672					T	48056061	C	T	48056061	2	4	79	1	0	0	0	0	0	0	0	1	14092	755	27	1		1	SEMA6D	15	48056061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781	48056061	54475331	15325	25642											
SLC24A5	283652	broad.mit.edu	37	chr15	48414088	48414088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttatttctccatcatcGgagtttcccgaagggttttt	9	8	2	0	rs539688524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000341459.3	+	2	229	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Silent_p.S52S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18597	0.0		0.0	False		,,,				2504	0.0					ENST00000482911.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(154-156)tcG>tcA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							122	125	124					15																	48414088		2198	4297	6495	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414088G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.156G>A	15.37:g.48414088G>A						SLC24A5_ENST00000341459.3_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron	p.S52S			Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	197	+		all_lung(180;0.00217)	52					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.156G>A	CCDS10128.1																																																																																				0.428	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		88	399	0	0	0	1	0	88	399					A	48414088	G	A	48414088	2	1	79	1	0	0	0	0	0	0	0	1	14519	1103	39	1		1	SLC24A5	15	48414088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358027	48414088	54117304	15326	25643											
SLC24A5	283652	broad.mit.edu	37	chr15	48426538	48426538	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattagttactgctttcctaGgtaaatattgctccttatac	5	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	129					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGCTTTCCTAGGTAAATATTG	0.388																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.e3+1		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							209	197	201					15																	48426538		2198	4297	6495	SO:0001630	splice_region_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48426538G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.385+1G>A	15.37:g.48426538G>A						SLC24A5_ENST00000449382.2_Splice_Site_p.G69_splice	p.G129_splice	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	3	458	+		all_lung(180;0.00217)	129					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Splice_Site	SNP	ENST00000341459.3	37	c.385_splice	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424352	0.96111	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	10	0.40728	T	0.16	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	69;129	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	129;69	ENSP00000341550:G129S;ENSP00000389966:G69S	ENSP00000341550:G129S	G	+	1	0	SLC24A5	46213830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGT		0.388	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	Missense_Mutation	74	384	0	0	0	1	0	74	384					A	48426538	G	A	48426538	5	1	79	1	0	0	0	0	0	0	1	0	14519	1014	35	2	395	2	SLC24A5	15	48426538	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12450	48426538	54104854	15327	25644											
MYEF2	50804	broad.mit.edu	37	chr15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctctctctcattccgcttCccattggacccgataaaaat	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	511	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATTCCGCTTCCCATTGGACC	0.393																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1531-1533)gGa>gAa		myelin expression factor 2							118	117	118					15																	48441415		2198	4296	6494	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48441415C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1532G>A	15.37:g.48441415C>T	ENSP00000316950:p.Gly511Glu					MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	p.G511E	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	15	1811	-		all_lung(180;0.00217)	511			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1532G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417490	0.62622	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.26660	2.21;1.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65573	0.936;0.864	T	0.38929	-0.9638	10	0.72032	D	0.01	-10.7172	18.4822	0.90817	0.0:1.0:0.0:0.0	.	487;511	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	511;487;99	ENSP00000316950:G511E;ENSP00000267836:G487E	ENSP00000267836:G487E	G	-	2	0	MYEF2	46228707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.477000	0.60223	2.539000	0.85634	0.585000	0.79938	GGA		0.393	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		132	551	0	0	0	1	0	132	551					T	48441415	C	T	48441415	3	4	79	1	0	0	0	0	1	0	0	0	10065	855	30	2	282	2	MYEF2	15	48441415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14877	48441415	54089977	15328	25645											
SLC12A1	6557	broad.mit.edu	37	chr15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctatgacttctcaagatgtCgacatgaaccatgtcagtac	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000558405.1	+	10	1425	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.R471*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	471					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1411-1413)Cga>Tga		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						141	119	126					15																	48537060		2198	4297	6495	SO:0001587	stop_gained	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48537060C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1411C>T	15.37:g.48537060C>T	ENSP00000453409:p.Arg471*					SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.R471*	p.R471*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	11	1626	+		all_lung(180;0.00219)	471					A8JYA2|E9PDW4	Nonsense_Mutation	SNP	ENST00000558405.1	37	c.1411C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889681	0.91889	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	3.45	0.39498	.	1.009920	0.07935	N	0.978155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.2468	0.06799	0.22:0.3429:0.3488:0.0882	.	.	.	.	X	284;471;471	.	ENSP00000370381:R471X	R	+	1	2	SLC12A1	46324352	0.000000	0.05858	0.852000	0.33557	0.672000	0.39443	0.158000	0.16422	2.642000	0.89623	0.655000	0.94253	CGA		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			30	168	0	0	0	1	0	30	168					T	48537060	C	T	48537060	4	4	79	1	0	0	0	0	0	1	0	0	14432	876	31	1	1549	1	SLC12A1	15	48537060	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95645	48537060	53994332	15329	25646											
DUT	1854	broad.mit.edu	37	chr15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttagctccacggtcagGcttggctgcaaaacacttta	8	10	1	0	rs373308210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	175	Substrate binding.			G -> S (in Ref. 6; BAF84204). {ECO:0000305}.	DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328								Modulation of nucleotide pools																														ENST00000331200.3																			0				kidney(2)	2						c.(523-525)gGc>gAc	Modulation of nucleotide pools	deoxyuridine triphosphatase		G	ASP/GLY,ASP/GLY,ASP/GLY	0,4396		0,0,2198	173	163	166		524,191,260	5.3	1	15		166	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	DUT	NM_001025248.1,NM_001025249.1,NM_001948.3	94,94,94	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/253,64/142,87/165	48628255	1,12989	2198	4297	6495	SO:0001583	missense	1854				DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding	g.chr15:48628255G>A	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"dUTP pyrophosphatase"			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.524G>A	15.37:g.48628255G>A	ENSP00000370376:p.Gly175Asp					DUT_ENST00000561350.1_3'UTR|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D	p.G175D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)	4	617	+		all_lung(180;0.00265)	175	G -> S (in Ref. 6; BAF84204).		Substrate binding.		A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	37	c.524G>A	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357620	0.82243	0.0	1.16E-4	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.61274	0.12;0.35	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91393	0.5137	10	0.87932	D	0	.	17.9865	0.89157	0.0:0.0:1.0:0.0	.	87;175	P33316-2;P33316	.;DUT_HUMAN	D	175;64;173;87	ENSP00000370376:G175D;ENSP00000405160:G87D	ENSP00000249783:G173D	G	+	2	0	DUT	46415547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.607000	0.88179	0.655000	0.94253	GGC		0.328	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2			51	234	0	0	0	1	0	51	234					A	48628255	G	A	48628255	3	1	79	1	0	0	0	0	1	0	0	0	4849	1203	42	2	554	2	DUT	15	48628255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91195	48628255	53903137	15330	25647											
FBN1	2200	broad.mit.edu	37	chr15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggttgattttaaagaagCcatcttcatttccagattcg	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2802					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)			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)		TTTAAAGAAGCCATCTTCATT	0.423																																						ENST00000316623.5																			0				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						c.(8404-8406)gGc>gAc		fibrillin 1							155	148	150					15																	48703398		2198	4297	6495	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.chr15:48703398C>T	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.8405G>A	15.37:g.48703398C>T	ENSP00000325527:p.Gly2802Asp					FBN1_ENST00000561429.1_5'UTR	p.G2802D	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	66	8860	-		all_lung(180;0.00279)	2802					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8405G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775808	0.70107	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75615	2.305	0.80722	D	1	P	0.48834	0.916	P	0.48166	0.569	D	0.86549	0.1833	10	0.59425	D	0.04	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	2802	P35555	FBN1_HUMAN	D	2802	ENSP00000325527:G2802D	ENSP00000325527:G2802D	G	-	2	0	FBN1	46490690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.585000	0.82584	2.785000	0.95823	0.650000	0.86243	GGC		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			56	638	0	0	0	1	0	56	638					T	48703398	C	T	48703398	3	4	79	1	0	0	0	0	1	0	0	0	5727	739	26	2	214	2	FBN1	15	48703398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75143	48703398	53827994	15331	25648											
FBN1	2200	broad.mit.edu	37	chr15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctccgtttcctgccccGtttggggtagccattgatct	10	13	2	1	rs398122832|rs61746008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2726			R -> W (in MFS; defects in protein processing; dbSNP:rs61746008). {ECO:0000269|PubMed:7738200}.		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)			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)		TTCCTGCCCCGTTTGGGGTAG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19870	0.0		0.0	False		,,,				2504	0.0					ENST00000316623.5																			0				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	GRCh37	CM950453	FBN1	M	rs61746008	c.(8176-8178)Cgg>Tgg		fibrillin 1		G	TRP/ARG	5,4391	11.4+/-27.6	0,5,2193	228	186	200	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8176	1	0.9	15	dbSNP_129	200	9,8583	7.1+/-27.0	0,9,4287	yes	missense	FBN1	NM_000138.4	101	0,14,6480	AA,AG,GG		0.1047,0.1137,0.1078	probably-damaging	2726/2872	48704816	14,12974	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.chr15:48704816G>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.8176C>T	15.37:g.48704816G>A	ENSP00000325527:p.Arg2726Trp					FBN1_ENST00000561429.1_5'UTR	p.R2726W	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8631	-		all_lung(180;0.00279)	2726		R -> W (in MFS; defects in protein processing).			B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8176C>T	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.306873	0.60305	0.001137	0.001047	ENSG00000166147	ENST00000316623	D	0.83591	-1.74	5.38	1.03	0.20045	Growth factor, receptor (1);	0.104411	0.64402	D	0.000004	T	0.79275	0.4418	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.74785	-0.3547	10	0.87932	D	0	.	9.5746	0.39450	0.0692:0.0:0.3942:0.5366	.	2726	P35555	FBN1_HUMAN	W	2726	ENSP00000325527:R2726W	ENSP00000325527:R2726W	R	-	1	2	FBN1	46492108	1.000000	0.71417	0.888000	0.34837	0.873000	0.50193	2.367000	0.44213	0.348000	0.23949	0.655000	0.94253	CGG		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			154	593	0	0	0	1	0	154	593					A	48704816	G	A	48704816	3	1	79	1	0	0	0	0	1	0	0	0	5727	1144	40	1	447	1	FBN1	15	48704816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	48704816	53826576	15332	25649											
FBN1	2200	broad.mit.edu	37	chr15	48718062	48718062	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccttgcattcatcgatatCtgtaatttaacaaatataaa	3	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						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.?(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)		TCATCGATATCTGTAATTTAA	0.313																																						ENST00000316623.5																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(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						c.e59-1		fibrillin 1							76	66	69					15																	48718062		2198	4295	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48718062C>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.7205-1G>T	15.37:g.48718062C>A								NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7660	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37		CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525982	0.64860	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46505354	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.		0.313	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Intron	29	152	1	0	3.73148e-12	1	3.99992e-12	29	152					A	48718062	C	A	48718062	5	1	79	1	0	0	0	0	0	0	1	0	5727	927	32	3	1443	3	FBN1	15	48718062	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13246	48718062	53813330	15333	25650											
FBN1	2200	broad.mit.edu	37	chr15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctggttggggctggCggtaaacccatcattacact	11	12	1	0	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2324	EGF-like 40; 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)			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)		TTGGGGCTGGCGGTAAACCCA	0.542																																						ENST00000316623.5																			0				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						c.(6970-6972)Gcc>Acc		fibrillin 1		C	THR/ALA	0,4396		0,0,2198	129	92	105		6970	2.8	0.4	15	dbSNP_134	105	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	58	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	2324/2872	48720570	1,12987	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.chr15:48720570C>T	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.6970G>A	15.37:g.48720570C>T	ENSP00000325527:p.Ala2324Thr						p.A2324T	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	57	7425	-		all_lung(180;0.00279)	2324			EGF-like 40; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6970G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590464	0.28357	0.0	1.16E-4	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.91996	-2.95	5.76	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202371	0.51477	D	0.000092	D	0.85017	0.5601	N	0.21448	0.665	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.75393	-0.3333	10	0.12766	T	0.61	.	16.8327	0.85949	0.0:0.6384:0.3616:0.0	.	2324	P35555	FBN1_HUMAN	T	2324;892	ENSP00000325527:A2324T	ENSP00000325527:A2324T	A	-	1	0	FBN1	46507862	0.078000	0.21339	0.390000	0.26220	0.652000	0.38707	0.390000	0.20768	0.335000	0.23614	0.555000	0.69702	GCC		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			23	222	0	0	0	1	0	23	222					T	48720570	C	T	48720570	3	4	79	1	0	0	0	0	1	0	0	0	5727	768	27	1	1685	1	FBN1	15	48720570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2508	48720570	53810822	15334	25651											
FBN1	2200	broad.mit.edu	37	chr15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccattgtctcctcgaggtCgaatatccaaatagcaattt	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				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.R1539Q(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)		TCCTCGAGGTCGAATATCCAA	0.438																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.R1539Q(1)	large_intestine(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						c.(4615-4617)cGa>cAa		fibrillin 1							107	105	106					15																	48760266		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.chr15:48760266C>T	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.4616G>A	15.37:g.48760266C>T	ENSP00000325527:p.Arg1539Gln						p.R1539Q	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	38	5071	-		all_lung(180;0.00279)	1539			TB 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4616G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	FBN1	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			82	345	0	0	0	1	0	82	345					T	48760266	C	T	48760266	3	4	79	1	0	0	0	0	1	0	0	0	5727	884	31	1	4115	1	FBN1	15	48760266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39696	48760266	53771126	15335	25652											
FBN1	2200	broad.mit.edu	37	chr15	48779354	48779354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgaggttcacgcaacgGccattggggcacaggtgtgc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1169	EGF-like 18; 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)			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)		TCACGCAACGGCCATTGGGGC	0.448																																						ENST00000316623.5																			0				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						c.(3505-3507)ggC>ggT		fibrillin 1							80	71	74					15																	48779354		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779354G>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.3507C>T	15.37:g.48779354G>A							p.G1169G	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	29	3962	-		all_lung(180;0.00279)	1169			EGF-like 18; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3507C>T	CCDS32232.1																																																																																				0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			37	189	0	0	0	1	0	37	189					A	48779354	G	A	48779354	2	1	79	1	0	0	0	0	0	0	0	1	5727	1190	42	2		2	FBN1	15	48779354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19088	48779354	53752038	15336	25653											
FBN1	2200	broad.mit.edu	37	chr15	48779509	48779509	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagtctttctccttacCgatacacgcggagatgttgg	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	ENST00000316623.5	-	28	3918	c.3463G>A	c.(3463-3465)Gac>Aac	p.D1155N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1155	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		D -> N (in MFS). {ECO:0000269|PubMed:14695540}.		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)			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)		TTCTCCTTACCGATACACGCG	0.473																																						ENST00000316623.5																			0				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	GRCh37	CM960637	FBN1	M		c.e28+1		fibrillin 1							93	94	94					15																	48779509		2198	4296	6494	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779509C>T	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.3463+1G>A	15.37:g.48779509C>T							p.D1155_splice	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	28	3918	-		all_lung(180;0.00279)	1155		D -> N (in MFS).	EGF-like 18; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37	c.3463_splice	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045556	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.99051	-5.37	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.095797	0.64402	D	0.000001	D	0.99351	0.9772	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99323	1.0907	9	.	.	.	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1155	P35555	FBN1_HUMAN	N	1155	ENSP00000325527:D1155N	.	D	-	1	0	FBN1	46566801	1.000000	0.71417	0.963000	0.40424	0.409000	0.31022	5.775000	0.68915	2.639000	0.89480	0.655000	0.94253	GAC		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Missense_Mutation	72	276	0	0	0	1	0	72	276					T	48779509	C	T	48779509	5	4	79	1	0	0	0	0	0	0	1	0	5727	666	23	1	5308	1	FBN1	15	48779509	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	48779509	53751883	15337	25654											
FBN1	2200	broad.mit.edu	37	chr15	48779598	48779598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttatggcaaacaccacctCggcataggagaggatctctc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779598C>T	ENST00000316623.5	-	28	3829	c.3374G>A	c.(3373-3375)cGa>cAa	p.R1125Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1125	EGF-like 17; 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)			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)		AACACCACCTCGGCATAGGAG	0.522																																						ENST00000316623.5																			0				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						c.(3373-3375)cGa>cAa		fibrillin 1							151	145	147					15																	48779598		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.chr15:48779598C>T	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.3374G>A	15.37:g.48779598C>T	ENSP00000325527:p.Arg1125Gln						p.R1125Q	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	28	3829	-		all_lung(180;0.00279)	1125			EGF-like 17; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3374G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695941	0.68386	.	.	ENSG00000166147	ENST00000316623	D	0.91894	-2.93	5.6	5.6	0.85130	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	0.86855	0.6033	N	0.11870	0.19	0.80722	D	1	P	0.47604	0.898	B	0.43251	0.413	D	0.88137	0.2842	10	0.46703	T	0.11	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1125	P35555	FBN1_HUMAN	Q	1125	ENSP00000325527:R1125Q	ENSP00000325527:R1125Q	R	-	2	0	FBN1	46566890	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	2.822000	0.48073	2.639000	0.89480	0.655000	0.94253	CGA		0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			119	509	0	0	0	1	0	119	509					T	48779598	C	T	48779598	3	4	79	1	0	0	0	0	1	0	0	0	5727	884	31	1	5397	1	FBN1	15	48779598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	48779598	53751794	15338	25655											
FBN1	2200	broad.mit.edu	37	chr15	48787772	48787772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcaaggacttgattcGcattcatcaatgtctgaaac	7	8	3	2	rs193921256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	811	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> Y (in MFS). {ECO:0000269|PubMed:21542060}.		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)			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)		GACTTGATTCGCATTCATCAA	0.383																																						ENST00000316623.5																			0				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	GRCh37	CM042037	FBN1	M		c.(2431-2433)tgC>tgT		fibrillin 1							168	182	178					15																	48787772		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787772G>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.2433C>T	15.37:g.48787772G>A							p.C811C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2888	-		all_lung(180;0.00279)	811			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.2433C>T	CCDS32232.1																																																																																				0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			138	727	0	0	0	1	0	138	727					A	48787772	G	A	48787772	2	1	79	1	0	0	0	0	0	0	0	1	5727	1079	38	1		1	FBN1	15	48787772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8174	48787772	53743620	15339	25656											
FBN1	2200	broad.mit.edu	37	chr15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagctggttagagcagCgcccgtttgtcagagctgtg	16	9	1	2	rs200388305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	344	TB 2.				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)			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)		GTTAGAGCAGCGCCCGTTTGT	0.517																																						ENST00000316623.5																			0				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						c.(1030-1032)cGc>cAc		fibrillin 1							79	68	72					15																	48812972		2197	4296	6493	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.chr15:48812972C>T	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.1031G>A	15.37:g.48812972C>T	ENSP00000325527:p.Arg344His						p.R344H	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	10	1486	-		all_lung(180;0.00279)	344			TB 2.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1031G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569925	0.96540	.	.	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94643	0.7832	10	0.37606	T	0.19	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	344	P35555	FBN1_HUMAN	H	344	ENSP00000325527:R344H	ENSP00000325527:R344H	R	-	2	0	FBN1	46600264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.939000	0.56591	2.941000	0.99782	0.655000	0.94253	CGC		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			44	206	0	0	0	1	0	44	206					T	48812972	C	T	48812972	3	4	79	1	0	0	0	0	1	0	0	0	5727	768	27	1	7812	1	FBN1	15	48812972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25200	48812972	53718420	15340	25657											
FBN1	2200	broad.mit.edu	37	chr15	48905247	48905247	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaaggttttccatccAgggcaacagtaagcattata	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	69					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)			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)		TTTTCCATCCAGGGCAACAGT	0.383																																						ENST00000316623.5																			0				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						c.(205-207)ccT>ccC		fibrillin 1							143	140	141					15																	48905247		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905247A>G	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.207T>C	15.37:g.48905247A>G							p.P69P	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	662	-		all_lung(180;0.00279)	69					B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.207T>C	CCDS32232.1																																																																																				0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			75	326	0	0	0	1	0	75	326					G	48905247	A	G	48905247	2	3	79	1	0	0	0	0	0	0	0	1	5727	175	7	4		4	FBN1	15	48905247	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92275	48905247	53626145	15341	25658											
CEP152	22995	broad.mit.edu	37	chr15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaattaattttcttgaaggCtgctgacacactgaagatgg	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1685					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(5053-5055)caG>caT		centrosomal protein 152kDa							124	116	119					15																	49030524		1875	4096	5971	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030524C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5055G>T	15.37:g.49030524C>A	ENSP00000370337:p.Gln1685His					CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	p.Q1685H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	27	5242	-		all_lung(180;0.0428)	1629					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.5055G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923478	0.73213	.	.	ENSG00000103995	ENST00000399334	T	0.54675	0.56	4.76	3.85	0.44370	.	0.363112	0.20109	N	0.099049	T	0.41743	0.1172	L	0.27053	0.805	0.26648	N	0.972153	P	0.45827	0.867	P	0.44946	0.465	T	0.24119	-1.0169	10	0.46703	T	0.11	-0.917	8.8499	0.35192	0.0:0.7633:0.0:0.2367	.	1629	O94986	CE152_HUMAN	H	1629	ENSP00000382271:Q1629H	ENSP00000382271:Q1629H	Q	-	3	2	CEP152	46817816	0.014000	0.17966	0.403000	0.26384	0.717000	0.41224	0.208000	0.17415	1.231000	0.43661	0.563000	0.77884	CAG		0.373	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		42	332	1	0	3.09479e-21	1	3.48195e-21	42	332					A	49030524	C	A	49030524	3	1	79	1	0	0	0	0	1	0	0	0	3257	796	28	3	81	3	CEP152	15	49030524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125277	49030524	53500868	15342	25659											
CEP152	22995	broad.mit.edu	37	chr15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatagcccccttgatgGctatgtccttctcttgttct	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	831					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2491-2493)gCc>gAc		centrosomal protein 152kDa							166	152	156					15																	49054658		1846	4087	5933	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054658G>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2492C>A	15.37:g.49054658G>T	ENSP00000370337:p.Ala831Asp					CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2679	-		all_lung(180;0.0428)	831					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2492C>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256788	0.39896	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.69806	-0.43;-0.39;-0.36	5.18	4.27	0.50696	.	0.173091	0.50627	D	0.000120	T	0.77903	0.4200	M	0.71581	2.175	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.71414	0.973;0.858;0.907	T	0.68655	-0.5351	10	0.48119	T	0.1	-2.873	10.953	0.47341	0.0867:0.0:0.9133:0.0	.	738;831;831	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	831;738;831	ENSP00000370337:A831D;ENSP00000321000:A738D;ENSP00000382271:A831D	ENSP00000321000:A738D	A	-	2	0	CEP152	46841950	0.008000	0.16893	0.008000	0.14137	0.349000	0.29174	1.461000	0.35255	1.562000	0.49601	0.650000	0.86243	GCC		0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		93	410	1	0	7.43734e-37	1	8.91631e-37	93	410					T	49054658	G	T	49054658	3	4	79	1	0	0	0	0	1	0	0	0	3257	1203	42	3	2508	3	CEP152	15	49054658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24134	49054658	53476734	15343	25660											
CEP152	22995	broad.mit.edu	37	chr15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagtcaattctagattatCcttctctctgcacacttcta	5	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	741					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2221-2223)Gat>Aat		centrosomal protein 152kDa							208	198	201					15																	49059316		1930	4128	6058	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059316C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2221G>A	15.37:g.49059316C>T	ENSP00000370337:p.Asp741Asn					CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2408	-		all_lung(180;0.0428)	741					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2221G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086811	0.94100	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.27;0.32;0.26	5.45	5.45	0.79879	.	0.216802	0.45361	D	0.000361	T	0.76212	0.3956	M	0.77103	2.36	0.45076	D	0.998092	P;D;D	0.89917	0.925;1.0;0.992	P;D;P	0.68943	0.691;0.961;0.891	T	0.77456	-0.2581	10	0.54805	T	0.06	-16.5704	17.4356	0.87550	0.0:1.0:0.0:0.0	.	648;741;741	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	741;648;741	ENSP00000370337:D741N;ENSP00000321000:D648N;ENSP00000382271:D741N	ENSP00000321000:D648N	D	-	1	0	CEP152	46846608	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	5.358000	0.66064	2.716000	0.92895	0.655000	0.94253	GAT		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		165	686	0	0	0	1	0	165	686					T	49059316	C	T	49059316	3	4	79	1	0	0	0	0	1	0	0	0	3257	855	30	2	2783	2	CEP152	15	49059316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4658	49059316	53472076	15344	25661											
CEP152	22995	broad.mit.edu	37	chr15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaattttcttatgacagtCtttgaggtcattttgtaact	6	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	573					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1717-1719)Gac>Tac		centrosomal protein 152kDa							162	147	152					15																	49064749		1878	4119	5997	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064749C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1717G>T	15.37:g.49064749C>A	ENSP00000370337:p.Asp573Tyr					CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1904	-		all_lung(180;0.0428)	573					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1717G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567788	0.86439	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.78	2.74	0.32292	.	1.094050	0.06685	N	0.768702	D	0.84906	0.5576	M	0.62723	1.935	0.09310	N	0.999993	D;D;D	0.63880	0.993;0.974;0.988	P;P;P	0.58873	0.847;0.8;0.847	T	0.68387	-0.5422	10	0.72032	D	0.01	-2.1459	5.1919	0.15214	0.1455:0.6256:0.0:0.2288	.	480;573;573	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	573;480;573;573	ENSP00000370337:D573Y;ENSP00000321000:D480Y;ENSP00000382271:D573Y	ENSP00000321000:D480Y	D	-	1	0	CEP152	46852041	0.996000	0.38824	0.389000	0.26208	0.996000	0.88848	0.620000	0.24403	0.919000	0.36945	0.591000	0.81541	GAC		0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		72	419	1	0	1.00246e-47	1	1.23503e-47	72	419					A	49064749	C	A	49064749	3	1	79	1	0	0	0	0	1	0	0	0	3257	913	32	3	3303	3	CEP152	15	49064749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	49064749	53466643	15345	25662											
CEP152	22995	broad.mit.edu	37	chr15	49064762	49064762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtctttgaggtcattTtgtaactgagacaccagatg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000399334.3_Silent_p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	568					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1702-1704)caA>caG		centrosomal protein 152kDa							167	152	157					15																	49064762		1899	4126	6025	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064762T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1704A>G	15.37:g.49064762T>C						CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000399334.3_Silent_p.Q568Q	p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1891	-		all_lung(180;0.0428)	568					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1704A>G	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		75	435	0	0	0	1	0	75	435					C	49064762	T	C	49064762	2	2	79	1	0	0	0	0	0	0	0	1	3257	1838	64	4		4	CEP152	15	49064762	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	49064762	53466630	15346	25663											
CEP152	22995	broad.mit.edu	37	chr15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgagacaccagatgaCgcttcattgagttgctaccc	9	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	561					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1681-1683)cGt>cAt		centrosomal protein 152kDa							174	158	163					15																	49064784		1913	4135	6048	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064784C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1682G>A	15.37:g.49064784C>T	ENSP00000370337:p.Arg561His					CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1869	-		all_lung(180;0.0428)	561					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1682G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052836	0.93793	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84070	-1.8;-1.8;-1.8	5.78	5.78	0.91487	.	0.054450	0.64402	D	0.000001	D	0.90950	0.7155	M	0.76002	2.32	0.45515	D	0.998477	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.988;0.999	D	0.90165	0.4231	10	0.49607	T	0.09	-7.1829	18.1631	0.89716	0.0:1.0:0.0:0.0	.	468;561;561	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	561;468;561;561	ENSP00000370337:R561H;ENSP00000321000:R468H;ENSP00000382271:R561H	ENSP00000321000:R468H	R	-	2	0	CEP152	46852076	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	CGT		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		73	451	0	0	0	1	0	73	451					T	49064784	C	T	49064784	3	4	79	1	0	0	0	0	1	0	0	0	3257	536	19	1	3338	1	CEP152	15	49064784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	49064784	53466608	15347	25664											
CEP152	22995	broad.mit.edu	37	chr15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttcagacgagagcaaaTgtcttcctaaatagaaaaaa	6	7	3	3	rs181295720	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	394					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAGAGCAAATGTCTTCCTAA	0.294													T|||	6	0.00119808	0.0	0.0	5008	,	,		14863	0.0		0.005	False		,,,				2504	0.001					ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1180-1182)Att>Gtt		centrosomal protein 152kDa		T	VAL/ILE,VAL/ILE	5,3649		0,5,1822	76	68	71		1180,1180	-1.8	0.1	15		71	26,8116		0,26,4045	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,31,5867	CC,CT,TT		0.3193,0.1368,0.2628	benign,benign	394/1711,394/1655	49076311	31,11765	1827	4071	5898	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49076311T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1180A>G	15.37:g.49076311T>C	ENSP00000370337:p.Ile394Val					CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|RP11-485O10.2_ENST00000558304.1_RNA	p.I394V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1367	-		all_lung(180;0.0428)	394					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1180A>G	CCDS58361.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	1.159	-0.644461	0.03531	0.001368	0.003193	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77877	-1.13;-1.13;-1.13	5.35	-1.79	0.07932	.	0.475067	0.22648	N	0.057372	T	0.51584	0.1683	L	0.35288	1.05	0.19945	N	0.999949	B;B;B	0.16603	0.001;0.007;0.018	B;B;B	0.12156	0.001;0.007;0.005	T	0.38436	-0.9661	10	0.02654	T	1	-3.6909	0.3026	0.00275	0.2147:0.2372:0.202:0.346	.	301;394;394	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	394;301;394;394	ENSP00000370337:I394V;ENSP00000321000:I301V;ENSP00000382271:I394V	ENSP00000321000:I301V	I	-	1	0	CEP152	46863603	0.004000	0.15560	0.083000	0.20561	0.157000	0.22087	-0.235000	0.09016	-0.233000	0.09797	-1.216000	0.01612	ATT		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		34	116	0	0	0	1	0	34	116					C	49076311	T	C	49076311	3	2	79	1	0	0	0	0	1	0	0	0	3257	1464	51	4	3852	4	CEP152	15	49076311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11527	49076311	53455081	15348	25665											
CEP152	22995	broad.mit.edu	37	chr15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattcagaatgatgaaggtCcaccagctgctgcttcaagc	10	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	345					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1033-1035)Gac>Aac		centrosomal protein 152kDa							165	152	156					15																	49081138		1941	4143	6084	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49081138C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1033G>A	15.37:g.49081138C>T	ENSP00000370337:p.Asp345Asn					CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	9	1220	-		all_lung(180;0.0428)	345					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1033G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226869	0.79576	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80304	-1.36;-1.36;-1.36	6.03	6.03	0.97812	.	0.240671	0.48286	D	0.000186	D	0.86176	0.5870	L	0.45581	1.43	0.43782	D	0.99631	D;D;D	0.69078	0.977;0.997;0.976	P;P;P	0.59357	0.787;0.856;0.724	D	0.86157	0.1591	10	0.72032	D	0.01	-14.6367	20.5568	0.99304	0.0:1.0:0.0:0.0	.	252;345;345	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	345;252;345;345	ENSP00000370337:D345N;ENSP00000321000:D252N;ENSP00000382271:D345N	ENSP00000321000:D252N	D	-	1	0	CEP152	46868430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.306000	0.72810	2.861000	0.98227	0.655000	0.94253	GAC		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		110	571	0	0	0	1	0	110	571					T	49081138	C	T	49081138	3	4	79	1	0	0	0	0	1	0	0	0	3257	855	30	2	4003	2	CEP152	15	49081138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4827	49081138	53450254	15349	25666											
CEP152	22995	broad.mit.edu	37	chr15	49089912	49089912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctcatctccaattgCtcaggatgatgtggtctcga	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E69E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388																																						ENST00000380950.2																			1	Substitution - coding silent(1)	p.E69E(1)	large_intestine(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(205-207)gaG>gaA		centrosomal protein 152kDa							170	154	159					15																	49089912		1939	4136	6075	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49089912C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.207G>A	15.37:g.49089912C>T						CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	4	394	-		all_lung(180;0.0428)	69					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.207G>A	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		96	408	0	0	0	1	0	96	408					T	49089912	C	T	49089912	2	4	79	1	0	0	0	0	0	0	0	1	3257	796	28	2		2	CEP152	15	49089912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8774	49089912	53441480	15350	25667											
SHC4	399694	broad.mit.edu	37	chr15	49135605	49135605	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgagtagctacttaCttccgcagtgccatgggctc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000537958.1_Splice_Site|SHC4_ENST00000396535.3_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.e10+1		SHC (Src homology 2 domain containing) family, member 4							143	142	142					15																	49135605		2197	4295	6492	SO:0001630	splice_region_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49135605C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1483+1G>A	15.37:g.49135605C>T						SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	10	1912	-		all_lung(180;0.00466)						Q6UXQ3|Q8IYW3	Splice_Site	SNP	ENST00000332408.4	37		CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712436	0.68730	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6164	0.76769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHC4	46922897	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	4.674000	0.61612	2.591000	0.87537	0.650000	0.86243	.		0.458	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	Intron	143	723	0	0	0	1	0	143	723					T	49135605	C	T	49135605	5	4	79	1	0	0	0	0	0	0	1	0	14323	579	20	2	420	2	SHC4	15	49135605	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45693	49135605	53395787	15351	25668											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggcttcctcagcctgCtcctgttccattgctgcaac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	Y_RNA_ENST00000384377.1_RNA|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	828							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCAGCCTGCTCCTGTTCCA	0.428																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2482-2484)gaG>gaT		SECIS binding protein 2-like							261	241	247					15																	49288703		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288703C>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2484G>T	15.37:g.49288703C>A	ENSP00000453854:p.Glu828Asp					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	p.E828D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2747	-			828					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2484G>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820874	0.71028	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	0.893	0.19236	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	L	0.29908	0.895	0.39808	D	0.972668	D;D	0.71674	0.996;0.998	P;D	0.63488	0.824;0.915	D	0.89300	0.3625	10	0.72032	D	0.01	.	9.1906	0.37197	0.0:0.5318:0.0:0.4682	.	828;783	Q93073;Q93073-2	SBP2L_HUMAN;.	D	783;828	ENSP00000261847:E783D	ENSP00000261847:E783D	E	-	3	2	SECISBP2L	47075995	0.989000	0.36119	0.999000	0.59377	0.992000	0.81027	0.302000	0.19192	0.288000	0.22398	0.650000	0.86243	GAG		0.428	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		29	1167	1	0	7.88262e-20	1	8.81088e-20	29	1167					A	49288703	C	A	49288703	3	1	79	1	0	0	0	0	1	0	0	0	14057	796	28	3	829	3	SECISBP2L	15	49288703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153098	49288703	53242689	15352	25669											
SECISBP2L	9728	broad.mit.edu	37	chr15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccagagcagctaacaTgtcccctaaatctagctgca	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	495							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1483-1485)Atg>Gtg		SECIS binding protein 2-like							176	156	163					15																	49308835		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49308835T>C	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1483A>G	15.37:g.49308835T>C	ENSP00000453854:p.Met495Val					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	p.M495V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			11	1746	-			495					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1483A>G	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386745	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76186	-1.0	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.72118	2.19	0.54753	D	0.999981	D;D	0.61697	0.983;0.99	P;D	0.72982	0.708;0.979	D	0.84915	0.0850	10	0.44086	T	0.13	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	495;450	Q93073;Q93073-2	SBP2L_HUMAN;.	V	450;495	ENSP00000261847:M450V	ENSP00000261847:M450V	M	-	1	0	SECISBP2L	47096127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.222000	0.72286	0.528000	0.53228	ATG		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		59	272	0	0	0	1	0	59	272					C	49308835	T	C	49308835	3	2	79	1	0	0	0	0	1	0	0	0	14057	1464	51	4	1854	4	SECISBP2L	15	49308835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20132	49308835	53222557	15353	25670											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320695	49320695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagcccctgctgcaggCtggttgttgctgtgtttggg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	283							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(847-849)caG>caA		SECIS binding protein 2-like							142	120	127					15																	49320695		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49320695C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.849G>A	15.37:g.49320695C>T						SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			5	1112	-			283					Q8N767	Silent	SNP	ENST00000559471.1	37	c.849G>A	CCDS53942.1																																																																																				0.448	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		94	402	0	0	0	1	0	94	402					T	49320695	C	T	49320695	2	4	79	1	0	0	0	0	0	0	0	1	14057	796	28	2		2	SECISBP2L	15	49320695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11860	49320695	53210697	15354	25671											
COPS2	9318	broad.mit.edu	37	chr15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcttgtgactgcactccGaatataggtcaatagctgct	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(298-300)Cgg>Tgg		COP9 signalosome subunit 2							74	79	77					15																	49431799		2196	4288	6484	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49431799G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.298C>T	15.37:g.49431799G>A	ENSP00000373553:p.Arg100Trp					COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W	p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	4	371	-		all_lung(180;0.0428)	100					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.298C>T	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372939	0.82573	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	3.59	0.41128	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.54629	0.757;0.757;0.757	T	0.66995	-0.5782	9	0.87932	D	0	-25.2134	12.3137	0.54944	0.139:0.0:0.861:0.0	.	36;101;100	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	W	100;100;36	.	ENSP00000299259:R100W	R	-	1	2	COPS2	47219091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	1.317000	0.45149	0.655000	0.94253	CGG		0.313	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		29	381	0	0	0	1	0	29	381					A	49431799	G	A	49431799	3	1	79	1	0	0	0	0	1	0	0	0	3742	1057	37	1	1094	1	COPS2	15	49431799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111104	49431799	53099593	15355	25672											
C15orf33	196951	broad.mit.edu	37	chr15	49860490	49860490	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtatgctcatgaaaagtgtCacataactttctgaaattct	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49860490C>T	ENST00000299338.6	-	9	1002	c.699G>A	c.(697-699)gtG>gtA	p.V233V	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	233																	TGAAAAGTGTCACATAACTTT	0.284																																						ENST00000299338.6																			0											c.(697-699)gtG>gtA		family with sequence similarity 227, member B							70	67	68					15																	49860490		2194	4294	6488	SO:0001819	synonymous_variant	196951							g.chr15:49860490C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.699G>A	15.37:g.49860490C>T						FAM227B_ENST00000561064.1_Intron	p.V233V	NM_152647.2	NP_689860.2					9	1002	-								Q86WS2	Silent	SNP	ENST00000299338.6	37	c.699G>A	CCDS32237.1																																																																																				0.284	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		31	146	0	0	0	1	0	31	146					T	49860490	C	T	49860490	2	4	79	1	0	0	0	0	0	0	0	1	1796	813	29	2		2	C15orf33	15	49860490	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428691	49860490	52670902	15356	25673											
C15orf33	196951	broad.mit.edu	37	chr15	49867255	49867255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagtcatgcaaaagagCaatggaggcttctgagagaa	13	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49867255C>T	ENST00000299338.6	-	8	901	c.598G>A	c.(598-600)Gct>Act	p.A200T	FAM227B_ENST00000561064.1_Missense_Mutation_p.A200T	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	200																	TGCAAAAGAGCAATGGAGGCT	0.299																																						ENST00000299338.6																			0											c.(598-600)Gct>Act		family with sequence similarity 227, member B							56	63	60					15																	49867255		2196	4294	6490	SO:0001583	missense	196951							g.chr15:49867255C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.598G>A	15.37:g.49867255C>T	ENSP00000299338:p.Ala200Thr					FAM227B_ENST00000561064.1_Missense_Mutation_p.A200T	p.A200T	NM_152647.2	NP_689860.2					8	901	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.598G>A	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788075	0.70337	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.73	3.79	0.43588	.	0.138981	0.34484	N	0.003927	T	0.74230	0.3689	M	0.80982	2.52	0.80722	D	1	P;D	0.56521	0.932;0.976	P;P	0.59171	0.543;0.853	T	0.77840	-0.2438	9	0.87932	D	0	-8.198	10.6668	0.45734	0.0:0.9063:0.0:0.0937	.	200;200	Q96M60-2;Q96M60	.;CO033_HUMAN	T	200	.	ENSP00000299338:A200T	A	-	1	0	C15orf33	47654547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.467000	0.45093	2.473000	0.83533	0.462000	0.41574	GCT		0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		36	193	0	0	0	1	0	36	193					T	49867255	C	T	49867255	3	4	79	1	0	0	0	0	1	0	0	0	1796	710	25	2	964	2	C15orf33	15	49867255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6765	49867255	52664137	15357	25674											
C15orf33	196951	broad.mit.edu	37	chr15	49868971	49868971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttaaaataaaaagataAatttgttcagcatccaaatg	5	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49868971A>C	ENST00000299338.6	-	7	816	c.513T>G	c.(511-513)atT>atG	p.I171M	FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.I171M|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	171																	TAAAAAGATAAATTTGTTCAG	0.308																																						ENST00000299338.6																			0											c.(511-513)atT>atG		family with sequence similarity 227, member B							36	40	39					15																	49868971		2196	4292	6488	SO:0001583	missense	196951							g.chr15:49868971A>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.513T>G	15.37:g.49868971A>C	ENSP00000299338:p.Ile171Met					FAM227B_ENST00000561064.1_Missense_Mutation_p.I171M|FAM227B_ENST00000560246.1_3'UTR|FAM227B_ENST00000558594.1_3'UTR	p.I171M	NM_152647.2	NP_689860.2					7	816	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.513T>G	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044440	0.08196	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.79	2.39	0.29439	.	0.123548	0.36591	N	0.002511	T	0.35038	0.0918	N	0.25957	0.775	0.80722	D	1	B;B	0.25563	0.039;0.129	B;B	0.27715	0.082;0.066	T	0.09818	-1.0657	9	0.46703	T	0.11	-6.1224	5.5213	0.16933	0.6453:0.1813:0.0:0.1733	.	171;171	Q96M60-2;Q96M60	.;CO033_HUMAN	M	171	.	ENSP00000299338:I171M	I	-	3	3	C15orf33	47656263	0.999000	0.42202	0.992000	0.48379	0.139000	0.21198	0.595000	0.24029	0.379000	0.24794	-1.804000	0.00617	ATT		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		23	94	0	0	0	1	0	23	94					C	49868971	A	C	49868971	3	2	79	1	0	0	0	0	1	0	0	0	1796	10	1	4	1053	4	C15orf33	15	49868971	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1716	49868971	52662421	15358	25675											
ATP8B4	79895	broad.mit.edu	37	chr15	50209130	50209130	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccttccttcaacacctaCctgagttcttctctcacttc	2	18	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		tcAACACCTACCTGAGTTCTT	0.453																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.e20+1		ATPase, class I, type 8B, member 4							271	223	239					15																	50209130		2196	4295	6491	SO:0001630	splice_region_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50209130C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2141+1G>T	15.37:g.50209130C>A						ATP8B4_ENST00000559829.1_Splice_Site		NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	20	2283	-		all_lung(180;0.00183)						Q9H727	Splice_Site	SNP	ENST00000284509.6	37		CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077341	0.76415	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B4	47996422	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.137000	0.77295	2.600000	0.87896	0.655000	0.94253	.		0.453	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	Intron	61	246	1	0	1.1362e-29	1	1.32843e-29	61	246					A	50209130	C	A	50209130	5	1	79	1	0	0	0	0	0	0	1	0	1198	521	18	3	1472	3	ATP8B4	15	50209130	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340159	50209130	52322262	15359	25676											
ATP8B4	79895	broad.mit.edu	37	chr15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatttcgatgtgtggataCgattatcctggaaaagaaat	9	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	32						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTGGATACGATTATCCTG	0.373																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(94-96)cGt>cAt		ATPase, class I, type 8B, member 4							92	94	94					15																	50339654		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50339654C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.95G>A	15.37:g.50339654C>T	ENSP00000284509:p.Arg32His					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	4	236	-		all_lung(180;0.00183)	32					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.95G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056893	0.36277	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.47	5.47	0.80525	.	0.233701	0.36519	N	0.002553	T	0.66046	0.2750	N	0.26042	0.785	0.39911	D	0.97403	B	0.15719	0.014	B	0.11329	0.006	T	0.61806	-0.6987	10	0.11485	T	0.65	.	16.8191	0.85741	0.0:1.0:0.0:0.0	.	32	Q8TF62	AT8B4_HUMAN	H	32	ENSP00000284509:R32H	ENSP00000284509:R32H	R	-	2	0	ATP8B4	48126946	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	2.569000	0.86673	0.591000	0.81541	CGT		0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		98	143	0	0	0	1	0	98	143					T	50339654	C	T	50339654	3	4	79	1	0	0	0	0	1	0	0	0	1198	536	19	1	3583	1	ATP8B4	15	50339654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130524	50339654	52191738	15360	25677											
HDC	3067	broad.mit.edu	37	chr15	50534865	50534865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaccggctcccacacgCtgaggctgcttgatgatctt	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Silent_p.Q494Q	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTCCCACACGCTGAGGCTGCT	0.577																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1579-1581)caG>caA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						58	57	57					15																	50534865		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534865C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1581G>A	15.37:g.50534865C>T						HDC_ENST00000543581.1_Silent_p.Q494Q	p.Q527Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1983	-		all_lung(180;0.0138)	527						Silent	SNP	ENST00000267845.3	37	c.1581G>A	CCDS10134.1																																																																																				0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			64	239	0	0	0	1	0	64	239					T	50534865	C	T	50534865	2	4	79	1	0	0	0	0	0	0	0	1	7045	796	28	2		2	HDC	15	50534865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195211	50534865	51996527	15361	25678											
HDC	3067	broad.mit.edu	37	chr15	50546817	50546817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccaggattttgttcttCcttgctgccagcagggcaat	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50546817C>T	ENST00000267845.3	-	5	888	c.486G>A	c.(484-486)agG>agA	p.R162R	HDC_ENST00000543581.1_Silent_p.R162R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TTTTGTTCTTCCTTGCTGCCA	0.507																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(484-486)agG>agA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						97	89	92					15																	50546817		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50546817C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.486G>A	15.37:g.50546817C>T						HDC_ENST00000543581.1_Silent_p.R162R	p.R162R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	5	888	-		all_lung(180;0.0138)	162						Silent	SNP	ENST00000267845.3	37	c.486G>A	CCDS10134.1																																																																																				0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			9	274	0	0	0	1	0	9	274					T	50546817	C	T	50546817	2	4	79	1	0	0	0	0	0	0	0	1	7045	854	30	2		2	HDC	15	50546817	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11952	50546817	51984575	15362	25679											
GABPB1	2553	broad.mit.edu	37	chr15	50592987	50592987	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagactcgtttttctaaccTggagtttctgaagaattgga	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000220429.8	-	6	900	c.732A>G	c.(730-732)ccA>ccG	p.P244P	GABPB1_ENST00000380877.3_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000396464.3_Splice_Site_p.P232P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000560825.1_Splice_Site_p.P232P			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTTTCTAACCTGGAGTTTCTG	0.453																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.e6+1		GA binding protein transcription factor, beta subunit 1							80	77	78					15																	50592987		2196	4295	6491	SO:0001630	splice_region_variant	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50592987T>C	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.733+1A>G	15.37:g.50592987T>C						GABPB1_ENST00000560825.1_Splice_Site_p.P232_splice|GABPB1_ENST00000396464.3_Splice_Site_p.P232_splice|GABPB1_ENST00000359031.4_Splice_Site_p.P232_splice|GABPB1_ENST00000429662.2_Splice_Site_p.P244_splice|GABPB1_ENST00000220429.8_Splice_Site_p.P244_splice|GABPB1_ENST00000543881.1_Splice_Site_p.P168_splice	p.P232_splice	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			6	1119	-			244					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Splice_Site	SNP	ENST00000220429.8	37	c.697_splice	CCDS32239.1																																																																																				0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		Silent	10	297	0	0	0	1	0	10	297					C	50592987	T	C	50592987	5	2	79	1	0	0	0	0	0	0	1	0	6185	1594	55	4	519	4	GABPB1	15	50592987	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46170	50592987	51938405	15363	25680											
USP8	9101	broad.mit.edu	37	chr15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaactccaacagttaatcGggaaaacaagtatgtttatc	7	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000396444.3	+	14	2563	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	742					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAGTTAATCGGGAAAACAAG	0.403																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2224-2226)cGg>cAg		ubiquitin specific peptidase 8							95	96	96					15																	50782713		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782713G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2225G>A	15.37:g.50782713G>A	ENSP00000379721:p.Arg742Gln					USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000396444.3_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	p.R742Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2725	+			742					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2225G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236592	0.79800	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19669	2.13;2.13;2.13;2.15	5.6	5.6	0.85130	.	0.650366	0.16020	N	0.233361	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D;P	0.60575	0.988;0.947	P;P	0.55260	0.752;0.772	T	0.02751	-1.1115	10	0.59425	D	0.04	-14.7141	19.9733	0.97292	0.0:0.0:1.0:0.0	.	636;742	B4DKA8;P40818	.;UBP8_HUMAN	Q	742;742;742;636	ENSP00000379721:R742Q;ENSP00000405537:R742Q;ENSP00000302239:R742Q;ENSP00000412682:R636Q	ENSP00000302239:R742Q	R	+	2	0	USP8	48570005	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.169000	0.94788	2.790000	0.95986	0.650000	0.86243	CGG		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		40	392	0	0	0	1	0	40	392					A	50782713	G	A	50782713	3	1	79	1	0	0	0	0	1	0	0	0	17143	1116	39	1	2275	1	USP8	15	50782713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189726	50782713	51748679	15364	25681											
USP8	9101	broad.mit.edu	37	chr15	50786282	50786282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtcaaatttgttgggGcataaaggtgaagtggcaga	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000396444.3	+	16	2801	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000433963.1_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	821	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTTGTTGGGGCATAAAGGTG	0.348																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2461-2463)ggG>ggA		ubiquitin specific peptidase 8							95	92	93					15																	50786282		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50786282G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2463G>A	15.37:g.50786282G>A						USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000396444.3_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	p.G821G	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	17	2963	+			821					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2463G>A	CCDS10137.1																																																																																				0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		40	316	0	0	0	1	0	40	316					A	50786282	G	A	50786282	2	1	79	1	0	0	0	0	0	0	0	1	17143	1190	42	2		2	USP8	15	50786282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569	50786282	51745110	15365	25682											
USP8	9101	broad.mit.edu	37	chr15	50788095	50788095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatgatcatctcgatgaCtttaaagctgcagaacatgc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000396444.3	+	17	3047	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000433963.1_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	903	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTCGATGACTTTAAAGCTG	0.343																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2707-2709)gaC>gaT		ubiquitin specific peptidase 8							42	38	40					15																	50788095		2196	4285	6481	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788095C>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2709C>T	15.37:g.50788095C>T						USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000396444.3_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.5_ENST00000560159.1_lincRNA	p.D903D	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3209	+			903					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2709C>T	CCDS10137.1																																																																																				0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		45	227	0	0	0	1	0	45	227					T	50788095	C	T	50788095	2	4	79	1	0	0	0	0	0	0	0	1	17143	564	20	2		2	USP8	15	50788095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1813	50788095	51743297	15366	25683											
USP50	373509	broad.mit.edu	37	chr15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgggtaatgaatatccGttctcagcttcctttttgtt	9	7	1	2	rs557823387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	286	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(841-843)aCg>aTg		ubiquitin specific peptidase 50							207	185	192					15																	50822088		1832	4090	5922	SO:0001583	missense	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50822088G>A	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.842C>T	15.37:g.50822088G>A	ENSP00000434676:p.Thr281Met					USP50_ENST00000530218.1_5'UTR	p.T281M	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	6	1015	-			281					E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	c.842C>T	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194840	0.58017	.	.	ENSG00000170236	ENST00000532404	T	0.32753	1.44	5.66	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.194190	0.43416	D	0.000575	T	0.54515	0.1863	M	0.81497	2.545	0.34114	D	0.663346	D	0.89917	1.0	D	0.69824	0.966	T	0.70676	-0.4806	10	0.72032	D	0.01	-8.1603	10.7927	0.46443	0.0878:0.0:0.9122:0.0	.	286	Q70EL3	UBP50_HUMAN	M	281	ENSP00000434676:T281M	ENSP00000434676:T281M	T	-	2	0	USP50	48609380	0.999000	0.42202	0.872000	0.34217	0.840000	0.47671	4.049000	0.57397	1.406000	0.46857	-0.143000	0.13931	ACG		0.388	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			70	310	0	0	0	1	0	70	310					A	50822088	G	A	50822088	3	1	79	1	0	0	0	0	1	0	0	0	17136	1145	40	1	170	1	USP50	15	50822088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33993	50822088	51709304	15367	25684											
TRPM7	54822	broad.mit.edu	37	chr15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttcgcgtaattggaAgcttttttgatttcatttgt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	839					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CGTAATTGGAAGCTTTTTTGA	0.274																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2515-2517)cTt>cGt		transient receptor potential cation channel, subfamily M, member 7							188	174	178					15																	50901842		1818	4068	5886	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50901842A>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2516T>G	15.37:g.50901842A>C	ENSP00000320239:p.Leu839Arg					TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	19	2797	-			839					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2516T>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366274	0.82463	.	.	ENSG00000092439	ENST00000313478	T	0.81415	-1.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.90256	0.4297	10	0.87932	D	0	-19.001	15.7606	0.78076	1.0:0.0:0.0:0.0	.	839	Q96QT4	TRPM7_HUMAN	R	839	ENSP00000320239:L839R	ENSP00000320239:L839R	L	-	2	0	TRPM7	48689134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.497000	0.81536	2.137000	0.66172	0.383000	0.25322	CTT		0.274	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		42	204	0	0	0	1	0	42	204					C	50901842	A	C	50901842	3	2	79	1	0	0	0	0	1	0	0	0	16644	72	3	4	3165	4	TRPM7	15	50901842	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79754	50901842	51629550	15368	25685											
TRPM7	54822	broad.mit.edu	37	chr15	50911964	50911964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgtctcgaacaagaTgaaacagcattggattagtt	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50911964T>G	ENST00000313478.7	-	13	1753	c.1472A>C	c.(1471-1473)cAt>cCt	p.H491P	TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	491					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCGAACAAGATGAAACAGCAT	0.254																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1471-1473)cAt>cCt		transient receptor potential cation channel, subfamily M, member 7							58	54	55					15																	50911964		1787	4058	5845	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50911964T>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1472A>C	15.37:g.50911964T>G	ENSP00000320239:p.His491Pro					TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	13	1753	-			491					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1472A>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865604	0.71949	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	4.11	4.11	0.48088	.	0.170164	0.52532	D	0.000077	T	0.59797	0.2220	L	0.58583	1.82	0.52099	D	0.999947	D	0.67145	0.996	P	0.53649	0.731	T	0.65627	-0.6122	10	0.87932	D	0	-15.5063	12.7744	0.57439	0.0:0.0:0.0:1.0	.	491	Q96QT4	TRPM7_HUMAN	P	491	ENSP00000320239:H491P	ENSP00000320239:H491P	H	-	2	0	TRPM7	48699256	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.443000	0.80521	1.867000	0.54127	0.456000	0.33151	CAT		0.254	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		6	192	0	0	0	1	0	6	192					G	50911964	T	G	50911964	3	3	79	1	0	0	0	0	1	0	0	0	16644	1464	51	4	4233	4	TRPM7	15	50911964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10122	50911964	51619428	15369	25686											
AP4E1	23431	broad.mit.edu	37	chr15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttgcttttcagaaaatgAtgaaggaatgtatggtgaga	11	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	77					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGAAAATGATGAAGGAATG	0.303																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(229-231)Atg>Ttg		adaptor-related protein complex 4, epsilon 1 subunit							117	121	119					15																	51207651		2195	4292	6487	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51207651A>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.229A>T	15.37:g.51207651A>T	ENSP00000261842:p.Met77Leu					AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	p.M77L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	3	335	+			77					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.229A>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885118	0.51908	.	.	ENSG00000081014	ENST00000261842	T	0.24908	1.83	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042722	0.85682	N	0.000000	T	0.21427	0.0516	L	0.31578	0.945	0.53005	D	0.999962	B;B	0.16603	0.0;0.018	B;B	0.19666	0.001;0.026	T	0.03000	-1.1084	10	0.33940	T	0.23	-11.7069	14.9133	0.70776	1.0:0.0:0.0:0.0	.	77;77	B4DM48;Q9UPM8	.;AP4E1_HUMAN	L	77	ENSP00000261842:M77L	ENSP00000261842:M77L	M	+	1	0	AP4E1	48994943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.727000	0.91480	2.252000	0.74401	0.529000	0.55759	ATG		0.303	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			60	288	0	0	0	1	0	60	288					T	51207651	A	T	51207651	3	4	79	1	0	0	0	0	1	0	0	0	752	333	12	5	239	5	AP4E1	15	51207651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295687	51207651	51323741	15370	25687											
AP4E1	23431	broad.mit.edu	37	chr15	51223034	51223034	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatataaagacttgactggGagttttgtaaccattttgaa	10	4	0	3	rs146147470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	245					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTTGACTGGGAGTTTTGTAA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0					ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(733-735)ggG>ggA		adaptor-related protein complex 4, epsilon 1 subunit		G		7,4385	12.9+/-30.5	0,7,2189	92	94	93		735	0.4	1	15	dbSNP_134	93	0,8588		0,0,4294	no	coding-synonymous	AP4E1	NM_007347.3		0,7,6483	AA,AG,GG		0.0,0.1594,0.0539		245/1138	51223034	7,12973	2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51223034G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.735G>A	15.37:g.51223034G>A						AP4E1_ENST00000560508.1_Silent_p.G170G	p.G245G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	7	841	+			245					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.735G>A	CCDS32240.1																																																																																				0.368	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			83	428	0	0	0	1	0	83	428					A	51223034	G	A	51223034	2	1	79	1	0	0	0	0	0	0	0	1	752	1161	41	2		2	AP4E1	15	51223034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15383	51223034	51308358	15371	25688											
AP4E1	23431	broad.mit.edu	37	chr15	51289963	51289963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatgaaactatatcagtGtcttcttataaaatttggaa	5	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000261842.5	+	18	2893	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_ENST00000560508.1_Silent_p.V854V|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	929					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATCAGTGTCTTCTTATA	0.323																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2785-2787)gtG>gtA		adaptor-related protein complex 4, epsilon 1 subunit							56	62	60					15																	51289963		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289963G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2787G>A	15.37:g.51289963G>A						AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	p.V929V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2893	+			929					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.2787G>A	CCDS32240.1																																																																																				0.323	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			53	258	0	0	0	1	0	53	258					A	51289963	G	A	51289963	2	1	79	1	0	0	0	0	0	0	0	1	752	1364	48	2		2	AP4E1	15	51289963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66929	51289963	51241429	15372	25689											
AP4E1	23431	broad.mit.edu	37	chr15	51293263	51293263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgactttgggaaactctggTtatccttcgcaaatgatgtg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293263T>C	ENST00000261842.5	+	20	3242	c.3136T>C	c.(3136-3138)Tta>Cta	p.L1046L	AP4E1_ENST00000560508.1_Silent_p.L971L|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1046					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAAACTCTGGTTATCCTTCGC	0.328																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3136-3138)Tta>Cta		adaptor-related protein complex 4, epsilon 1 subunit							99	102	101					15																	51293263		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51293263T>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3136T>C	15.37:g.51293263T>C						AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	p.L1046L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	20	3242	+			1046					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.3136T>C	CCDS32240.1																																																																																				0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			13	382	0	0	0	1	0	13	382					C	51293263	T	C	51293263	2	2	79	1	0	0	0	0	0	0	0	1	752	1722	60	4		4	AP4E1	15	51293263	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3300	51293263	51238129	15373	25690											
AP4E1	23431	broad.mit.edu	37	chr15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaagactccatattattgaGattataggtttgtagagtta	8	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000261842.5	+	20	3352	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1082					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATATTATTGAGATTATAGGTT	0.328																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3244-3246)gaG>gaT		adaptor-related protein complex 4, epsilon 1 subunit							77	80	79					15																	51293373		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51293373G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3246G>T	15.37:g.51293373G>T	ENSP00000261842:p.Glu1082Asp					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	p.E1082D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	20	3352	+			1082					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.3246G>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541238	0.00934	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	4.93	-3.71	0.04424	Coatomer, beta subunit, C-terminal (1);	0.312135	0.35615	N	0.003083	T	0.03651	0.0104	N	0.04203	-0.255	0.27938	N	0.937604	B	0.02656	0.0	B	0.08055	0.003	T	0.32824	-0.9892	10	0.02654	T	1	-3.3318	1.2787	0.02036	0.47:0.1469:0.1173:0.2658	.	1082	Q9UPM8	AP4E1_HUMAN	D	1082	ENSP00000261842:E1082D	ENSP00000261842:E1082D	E	+	3	2	AP4E1	49080665	0.066000	0.20996	0.442000	0.26870	0.102000	0.19082	-0.350000	0.07721	-0.513000	0.06496	-1.204000	0.01649	GAG		0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			54	234	1	0	7.47603e-22	1	8.43918e-22	54	234					T	51293373	G	T	51293373	3	4	79	1	0	0	0	0	1	0	0	0	752	933	33	3	3324	3	AP4E1	15	51293373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	51293373	51238019	15374	25691											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcatgatcttgtgggCttccttcttgttgtgtgtgt	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCTTGTGGGCTTCCTTCTTG	0.458																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(484-486)Gcc>Tcc		tumor necrosis factor, alpha-induced protein 8-like 3							334	269	291					15																	51350473		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51350473C>A	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.484G>T	15.37:g.51350473C>A	ENSP00000328016:p.Ala162Ser					RP11-108K3.1_ENST00000559909.1_lincRNA	p.A162S	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	3	583	-			162					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.484G>T	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813604	0.90790	.	.	ENSG00000183578	ENST00000327536	T	0.38722	1.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62618	-0.6816	10	0.54805	T	0.06	-14.7162	18.3372	0.90293	0.0:1.0:0.0:0.0	.	162	Q5GJ75	TP8L3_HUMAN	S	162	ENSP00000328016:A162S	ENSP00000328016:A162S	A	-	1	0	TNFAIP8L3	49137765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.569000	0.86673	0.508000	0.49915	GCC		0.458	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		94	601	1	0	4.09499e-44	1	5.00728e-44	94	601					A	51350473	C	A	51350473	3	1	79	1	0	0	0	0	1	0	0	0	16331	797	28	3	398	3	TNFAIP8L3	15	51350473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57100	51350473	51180919	15375	25692											
CYP19A1	1588	broad.mit.edu	37	chr15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttgtagtagttgcaggCactgccgatccccatccaca	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	73					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TAGTTGCAGGCACTGCCGATC	0.502																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(217-219)Gcc>Acc		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						108	102	104					15																	51529135		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51529135C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.217G>A	15.37:g.51529135C>T	ENSP00000379683:p.Ala73Thr					CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T	p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	3	370	-			73					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.217G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441462	0.63067	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.91196	3.185	0.80722	D	1	B;P	0.37038	0.253;0.579	B;P	0.47162	0.101;0.54	D	0.83742	0.0204	10	0.66056	D	0.02	-15.5037	14.5829	0.68305	0.0:0.9301:0.0:0.0699	.	73;73	Q8IYJ7;P11511	.;CP19A_HUMAN	T	73	ENSP00000379683:A73T;ENSP00000260433:A73T;ENSP00000379685:A73T;ENSP00000390614:A73T;ENSP00000383930:A73T;ENSP00000391139:A73T;ENSP00000384389:A73T	ENSP00000260433:A73T	A	-	1	0	CYP19A1	49316427	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.600000	0.67599	1.542000	0.49330	0.655000	0.94253	GCC		0.502	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			120	461	0	0	0	1	0	120	461					T	51529135	C	T	51529135	3	4	79	1	0	0	0	0	1	0	0	0	4159	710	25	2	1326	2	CYP19A1	15	51529135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178662	51529135	51002257	15376	25693											
GLDN	342035	broad.mit.edu	37	chr15	51693790	51693790	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcttccctcctacagGcatcatggttaaggaattca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	343	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e9-1		gliomedin							198	162	174					15																	51693790		2196	4293	6489	SO:0001630	splice_region_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51693790G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1028-1G>T	15.37:g.51693790G>T			OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979	GLDN_ENST00000396399.2_Splice_Site_p.G219_splice	p.G343_splice	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	9	1084	+			343			Olfactomedin-like.		Q6UXZ7|Q7Z359	Splice_Site	SNP	ENST00000335449.6	37	c.1027_splice	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803327	0.90623	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92647	-3.08;-3.08	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44285	D	0.000476	D	0.96244	0.8775	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95788	0.8822	9	.	.	.	.	18.8497	0.92222	0.0:0.0:1.0:0.0	.	343	Q6ZMI3	GLDN_HUMAN	V	343;219;219	ENSP00000335196:G343V;ENSP00000379681:G219V	.	G	+	2	0	GLDN	49481082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.384000	0.90160	2.692000	0.91855	0.655000	0.94253	GGC		0.507	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	Missense_Mutation	42	438	1	0	1.30475e-32	1	1.54167e-32	42	438					T	51693790	G	T	51693790	5	4	79	1	0	0	0	0	0	0	1	0	6463	1217	42	3	1062	3	GLDN	15	51693790	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164655	51693790	50837602	15377	25694											
GLDN	342035	broad.mit.edu	37	chr15	51696637	51696637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtggacggctcgagcattCttgtagcacaactggatgag	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	ENST00000335449.6	+	10	1398	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	448	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTCGAGCATTCTTGTAGCACA	0.448																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1342-1344)Ctt>Att		gliomedin							159	147	151					15																	51696637		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696637C>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1342C>A	15.37:g.51696637C>A	ENSP00000335196:p.Leu448Ile					GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	p.L448I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1398	+			448			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1342C>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073370	0.08485	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88975	-2.45;-2.45	5.71	0.907	0.19321	Olfactomedin-like (3);	0.402479	0.18238	N	0.147340	T	0.79240	0.4412	L	0.28115	0.83	0.31440	N	0.672055	B	0.25667	0.131	B	0.30029	0.11	T	0.71334	-0.4624	10	0.36615	T	0.2	.	5.3883	0.16229	0.1935:0.3411:0.3907:0.0747	.	448	Q6ZMI3	GLDN_HUMAN	I	448;324;324	ENSP00000335196:L448I;ENSP00000379681:L324I	ENSP00000335196:L448I	L	+	1	0	GLDN	49483929	1.000000	0.71417	0.011000	0.14972	0.156000	0.22039	1.863000	0.39459	0.296000	0.22592	0.563000	0.77884	CTT		0.448	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		63	616	1	0	7.41606e-26	1	8.52628e-26	63	616					A	51696637	C	A	51696637	3	1	79	1	0	0	0	0	1	0	0	0	6463	913	32	3	1380	3	GLDN	15	51696637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2847	51696637	50834755	15378	25695											
DMXL2	23312	broad.mit.edu	37	chr15	51750948	51750948	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcatatcagattccttatgGatgactttcgcctttccacc	5	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2656						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCCTTATGGATGACTTTCG	0.373																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7966-7968)atC>atA		Dmx-like 2							118	113	115					15																	51750948		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750948G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7968C>A	15.37:g.51750948G>T						RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000559977.1_RNA	p.I2656I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	34	8255	-			2656					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.7968C>A	CCDS10141.1																																																																																				0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		66	341	1	0	2.69673e-31	1	3.17273e-31	66	341					T	51750948	G	T	51750948	2	4	79	1	0	0	0	0	0	0	0	1	4611	1164	41	3		3	DMXL2	15	51750948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54311	51750948	50780444	15379	25696											
DMXL2	23312	broad.mit.edu	37	chr15	51772901	51772901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctctcgtttggcctgCaatcttcttctttctatttg	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1498L|DMXL2_ENST00000543779.2_Silent_p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2134						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTTGGCCTGCAATCTTCTTC	0.448																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6400-6402)ttG>ttA		Dmx-like 2							137	129	131					15																	51772901		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772901C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6402G>A	15.37:g.51772901C>T						RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.L2134L|DMXL2_ENST00000449909.3_Silent_p.L1498L	p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6689	-			2134					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.6402G>A	CCDS10141.1																																																																																				0.448	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		128	578	0	0	0	1	0	128	578					T	51772901	C	T	51772901	2	4	79	1	0	0	0	0	0	0	0	1	4611	709	25	2		2	DMXL2	15	51772901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21953	51772901	50758491	15380	25697											
DMXL2	23312	broad.mit.edu	37	chr15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagataccaagtctatagatCtaagaagaacccatcttgac	6	9	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3700-3702)aGa>aAa		Dmx-like 2							185	159	168					15																	51791720		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791720C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3701G>A	15.37:g.51791720C>T	ENSP00000251076:p.Arg1234Lys					DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron	p.R1234K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3988	-			1234					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3701G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		100	502	0	0	0	1	0	100	502					T	51791720	C	T	51791720	3	4	79	1	0	0	0	0	1	0	0	0	4611	913	32	2	5516	2	DMXL2	15	51791720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18819	51791720	50739672	15381	25698											
DMXL2	23312	broad.mit.edu	37	chr15	51860756	51860756	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaccatatgaagctgcaatCtaaaaaagaataaatacagc	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTGCAATCTAAAAAAGAA	0.249																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e3-1		Dmx-like 2							27	27	27					15																	51860756		2170	4257	6427	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51860756C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.214-1G>T	15.37:g.51860756C>A						DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	3	501	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550711	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7452	0.91789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49648048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.359000	0.79477	2.507000	0.84556	0.650000	0.86243	.		0.249	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	22	76	1	0	9.95505e-16	1	1.08957e-15	22	76					A	51860756	C	A	51860756	5	1	79	1	0	0	0	0	0	0	1	0	4611	927	32	3	9064	3	DMXL2	15	51860756	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69036	51860756	50670636	15382	25699											
SCG3	29106	broad.mit.edu	37	chr15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttgattcaaccaagaatCgaaaactgatcgatgattat	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	114					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCAAGAATCGAAAACTGAT	0.318																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(340-342)Cga>Tga		secretogranin III							119	126	124					15																	51975574		2195	4293	6488	SO:0001587	stop_gained	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975574C>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.340C>T	15.37:g.51975574C>T	ENSP00000220478:p.Arg114*					SCG3_ENST00000542355.2_5'UTR	p.R114*	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	743	+			114					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Nonsense_Mutation	SNP	ENST00000220478.3	37	c.340C>T	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	40	8.080766	0.98643	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.07	4.16	0.48862	.	0.059838	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.973	10.9175	0.47146	0.1314:0.8019:0.0:0.0667	.	.	.	.	X	114	.	ENSP00000220478:R114X	R	+	1	2	SCG3	49762866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.223000	0.51231	1.534000	0.49203	0.655000	0.94253	CGA		0.318	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		83	481	0	0	0	1	0	83	481					T	51975574	C	T	51975574	4	4	79	1	0	0	0	0	0	1	0	0	13942	876	31	1	354	1	SCG3	15	51975574	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114818	51975574	50555818	15383	25700											
TMOD2	29767	broad.mit.edu	37	chr15	52058709	52058709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcttcttggcaaacTctcagaagaggaactgaaac	10	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52058709T>G	ENST00000249700.4	+	2	292	c.71T>G	c.(70-72)cTc>cGc	p.L24R	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	24					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CTTGGCAAACTCTCAGAAGAG	0.418																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(70-72)cTc>cGc		tropomodulin 2 (neuronal)							126	117	120					15																	52058709		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52058709T>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.71T>G	15.37:g.52058709T>G	ENSP00000249700:p.Leu24Arg					TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R|TMOD2_ENST00000539962.2_5'UTR	p.L24R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	2	292	+			24					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.71T>G	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732686	0.89482	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.51817	0.69;0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80917	-0.1168	10	0.87932	D	0	-9.5235	16.0592	0.80826	0.0:0.0:0.0:1.0	.	24;24	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	R	24	ENSP00000404590:L24R;ENSP00000249700:L24R	ENSP00000249700:L24R	L	+	2	0	TMOD2	49846001	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.196000	0.70406	0.482000	0.46254	CTC		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			9	493	0	0	0	1	0	9	493					G	52058709	T	G	52058709	3	3	79	1	0	0	0	0	1	0	0	0	16286	1551	54	4	73	4	TMOD2	15	52058709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83135	52058709	50472683	15384	25701											
MAPK6	5597	broad.mit.edu	37	chr15	52338703	52338703	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacattcatggttttgatCtgggttctaggtatatggac	11	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(46-48)Ctg>Ttg		mitogen-activated protein kinase 6							146	149	148					15																	52338703		2195	4293	6488	SO:0001819	synonymous_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338703C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.46C>T	15.37:g.52338703C>T							p.L16L	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	853	+			16					B2R945|B5BU65|Q68DH4|Q8IYN8	Silent	SNP	ENST00000261845.5	37	c.46C>T	CCDS10147.1																																																																																				0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		74	714	0	0	0	1	0	74	714					T	52338703	C	T	52338703	2	4	79	1	0	0	0	0	0	0	0	1	9322	912	32	2		2	MAPK6	15	52338703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279994	52338703	50192689	15385	25702											
MAPK6	5597	broad.mit.edu	37	chr15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcttggttttttctgCtgtagacaatgactgtgaca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTTTCTGCTGTAGACAAT	0.378																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(109-111)gCt>gTt		mitogen-activated protein kinase 6							117	118	118					15																	52338767		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338767C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.110C>T	15.37:g.52338767C>T	ENSP00000261845:p.Ala37Val						p.A37V	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	917	+			37			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.110C>T	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588654	0.86851	.	.	ENSG00000069956	ENST00000261845	T	0.55413	0.52	5.17	5.17	0.71159	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	0.64438	0.2598	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66618	-0.5878	10	0.56958	D	0.05	-17.1548	18.7507	0.91814	0.0:1.0:0.0:0.0	.	37	Q16659	MK06_HUMAN	V	37	ENSP00000261845:A37V	ENSP00000261845:A37V	A	+	2	0	MAPK6	50126059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.445000	0.82738	0.650000	0.86243	GCT		0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		27	637	0	0	0	1	0	27	637					T	52338767	C	T	52338767	3	4	79	1	0	0	0	0	1	0	0	0	9322	797	28	2	112	2	MAPK6	15	52338767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	52338767	50192625	15386	25703											
GNB5	10681	broad.mit.edu	37	chr15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtttcaaaggcctgcaCgcactggccggagcgcatgt	13	11	1	0	rs201352368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	274					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(820-822)Gtg>Atg		guanine nucleotide binding protein (G protein), beta 5		C	MET/VAL,MET/VAL	0,4390		0,0,2195	164	126	139		694,820	4.8	1	15		139	4,8582	3.7+/-12.6	0,4,4289	yes	missense,missense	GNB5	NM_006578.3,NM_016194.3	21,21	0,4,6484	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	232/354,274/396	52425618	4,12972	2195	4293	6488	SO:0001583	missense	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52425618C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.820G>A	15.37:g.52425618C>T	ENSP00000261837:p.Val274Met					GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M	p.V274M	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	9	885	-			274					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.820G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925855	0.73213	0.0	4.66E-4	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62105	0.05	5.78	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126087	0.52532	D	0.000066	T	0.58764	0.2145	L	0.37630	1.12	0.80722	D	1	P;P	0.46621	0.881;0.871	P;P	0.51701	0.574;0.677	T	0.60860	-0.7179	10	0.66056	D	0.02	-18.5063	6.5084	0.22208	0.0:0.7194:0.0:0.2806	.	274;162	O14775;O14775-3	GBB5_HUMAN;.	M	274;232;72;162	ENSP00000261837:V274M	ENSP00000261837:V274M	V	-	1	0	GNB5	50212910	0.997000	0.39634	0.990000	0.47175	0.929000	0.56500	3.033000	0.49743	2.724000	0.93272	0.563000	0.77884	GTG		0.493	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			62	361	0	0	0	1	0	62	361					T	52425618	C	T	52425618	3	4	79	1	0	0	0	0	1	0	0	0	6550	536	19	1	387	1	GNB5	15	52425618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86851	52425618	50105774	15387	25704											
MYO5C	55930	broad.mit.edu	37	chr15	52513390	52513390	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcttgttcattcaggcgGatttcaagatcttgcttctg	9	9	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1230						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3688-3690)atC>atT		myosin VC							117	109	111					15																	52513390		1829	4075	5904	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52513390G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3690C>T	15.37:g.52513390G>A							p.I1230I	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	30	3851	-			1230					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3690C>T	CCDS42036.1																																																																																				0.348	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		42	274	0	0	0	1	0	42	274					A	52513390	G	A	52513390	2	1	79	1	0	0	0	0	0	0	0	1	10121	1164	41	2		2	MYO5C	15	52513390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87772	52513390	50018002	15388	25705											
MYO5C	55930	broad.mit.edu	37	chr15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggtctccatgagcaaGtacagagagctgcggaacta	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	633	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1897-1899)taC>taA		myosin VC							116	115	116					15																	52539194		2007	4173	6180	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52539194G>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1899C>A	15.37:g.52539194G>T	ENSP00000261839:p.Tyr633*					MYO5C_ENST00000443683.2_3'UTR	p.Y633*	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	16	2060	-			633			Myosin head-like.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.1899C>A	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983179	0.98594	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.27	4.12	0.48240	.	0.660669	0.15813	N	0.243391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7352	0.23405	0.2559:0.0:0.7441:0.0	.	.	.	.	X	633	.	ENSP00000261839:Y633X	Y	-	3	2	MYO5C	50326486	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.936000	0.40183	2.628000	0.89032	0.561000	0.74099	TAC		0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		52	287	1	0	2.17126e-26	1	2.5019e-26	52	287					T	52539194	G	T	52539194	4	4	79	1	0	0	0	0	0	1	0	0	10121	1024	36	3	3433	3	MYO5C	15	52539194	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25804	52539194	49992198	15389	25706											
MYO5A	4644	broad.mit.edu	37	chr15	52656853	52656853	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctttcatcattaaggtcGagttccagttgtttcgtttc	8	9	2	0	rs183302379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1069					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATTAAGGTCGAGTTCCAGTT	0.388													G|||	10	0.00199681	0.0	0.0	5008	,	,		16743	0.0099		0.0	False		,,,				2504	0.0					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3205-3207)ctC>ctT		myosin VA (heavy chain 12, myoxin)							175	158	163					15																	52656853		1842	4088	5930	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52656853G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3207C>T	15.37:g.52656853G>A						MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	p.L1069L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	24	3450	-			1069					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3207C>T	CCDS42037.1																																																																																				0.388	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		47	463	0	0	0	1	0	47	463					A	52656853	G	A	52656853	2	1	79	1	0	0	0	0	0	0	0	1	10119	1045	37	1		1	MYO5A	15	52656853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117659	52656853	49874539	15390	25707											
KIAA1370	56204	broad.mit.edu	37	chr15	52901191	52901191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtggtgcaatttgaataCtgtttatcaattccattgct	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901191C>T	ENST00000261844.7	-	6	2072	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	FAM214A_ENST00000546305.2_Silent_p.Q647Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	640																	AATTTGAATACTGTTTATCAA	0.299																																						ENST00000261844.7																			0											c.(1918-1920)caG>caA		family with sequence similarity 214, member A							117	115	115					15																	52901191		1814	4072	5886	SO:0001819	synonymous_variant	56204							g.chr15:52901191C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1920G>A	15.37:g.52901191C>T						FAM214A_ENST00000546305.2_Silent_p.Q647Q	p.Q640Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2072	-			640					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.1920G>A	CCDS45263.1																																																																																				0.299	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		75	285	0	0	0	1	0	75	285					T	52901191	C	T	52901191	2	4	79	1	0	0	0	0	0	0	0	1	8256	564	20	2		2	KIAA1370	15	52901191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244338	52901191	49630201	15391	25708											
KIAA1370	56204	broad.mit.edu	37	chr15	52901701	52901701	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcctatcaaaggattagtCtctccaacaggcatatgaga	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901701C>T	ENST00000261844.7	-	6	1562	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	FAM214A_ENST00000546305.2_Silent_p.E477E	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	470																	AAGGATTAGTCTCTCCAACAG	0.413																																						ENST00000261844.7																			0											c.(1408-1410)gaG>gaA		family with sequence similarity 214, member A							104	100	101					15																	52901701		1865	4091	5956	SO:0001819	synonymous_variant	56204							g.chr15:52901701C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1410G>A	15.37:g.52901701C>T						FAM214A_ENST00000546305.2_Silent_p.E477E	p.E470E	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1562	-			470					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.1410G>A	CCDS45263.1																																																																																				0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		90	396	0	0	0	1	0	90	396					T	52901701	C	T	52901701	2	4	79	1	0	0	0	0	0	0	0	1	8256	912	32	2		2	KIAA1370	15	52901701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	52901701	49629691	15392	25709											
KIAA1370	56204	broad.mit.edu	37	chr15	52902196	52902196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccatggtcagatttactGccagtgcctggatatagttt	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52902196G>A	ENST00000261844.7	-	6	1067	c.915C>T	c.(913-915)ggC>ggT	p.G305G	FAM214A_ENST00000546305.2_Silent_p.G312G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	305																	CAGATTTACTGCCAGTGCCTG	0.393																																						ENST00000261844.7																			0											c.(913-915)ggC>ggT		family with sequence similarity 214, member A							61	52	55					15																	52902196		1847	4090	5937	SO:0001819	synonymous_variant	56204							g.chr15:52902196G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.915C>T	15.37:g.52902196G>A						FAM214A_ENST00000546305.2_Silent_p.G312G	p.G305G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1067	-			305					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.915C>T	CCDS45263.1																																																																																				0.393	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		13	102	0	0	0	1	0	13	102					A	52902196	G	A	52902196	2	1	79	1	0	0	0	0	0	0	0	1	8256	1306	46	2		2	KIAA1370	15	52902196	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495	52902196	49629196	15393	25710											
WDR72	256764	broad.mit.edu	37	chr15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctttcacctggactctcaGactcttccaaggcacatctg	8	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000396328.1	-	19	3481	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1081										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)		TGGACTCTCAGACTCTTCCAA	0.468																																						ENST00000396328.1																			0				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						c.(3241-3243)tCt>tTt		WD repeat domain 72							183	178	180					15																	53815426		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53815426G>A	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.3242C>T	15.37:g.53815426G>A	ENSP00000379619:p.Ser1081Phe					WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F	p.S1081F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3481	-			1081					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3242C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616979	0.66672	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.235283	0.30649	N	0.009171	T	0.63129	0.2485	L	0.51422	1.61	0.37861	D	0.929711	D	0.64830	0.994	P	0.60173	0.87	T	0.65076	-0.6256	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1081	Q3MJ13	WDR72_HUMAN	F	1081	ENSP00000379619:S1081F;ENSP00000353699:S1081F	ENSP00000353699:S1081F	S	-	2	0	WDR72	51602718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.941000	0.99782	0.655000	0.94253	TCT		0.468	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		165	858	0	0	0	1	0	165	858					A	53815426	G	A	53815426	3	1	79	1	0	0	0	0	1	0	0	0	17376	942	33	2	74	2	WDR72	15	53815426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	913230	53815426	48715966	15394	25711											
WDR72	256764	broad.mit.edu	37	chr15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttcatgtgttgttgaaCttccgccaagagaacagctt	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000396328.1	-	18	3228	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I	WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										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)		TGTTGTTGAACTTCCGCCAAG	0.383																																						ENST00000396328.1																			0				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						c.(2989-2991)Gtt>Att		WD repeat domain 72							219	202	208					15																	53889435		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889435C>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.2989G>A	15.37:g.53889435C>T	ENSP00000379619:p.Val997Ile					WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I	p.V997I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3228	-			997					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2989G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909339	0.72868	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.47116	0.1428	M	0.61703	1.905	0.28436	N	0.917058	D	0.53312	0.959	P	0.47744	0.556	T	0.49303	-0.8954	10	0.42905	T	0.14	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	I	997	ENSP00000379619:V997I;ENSP00000353699:V997I	ENSP00000353699:V997I	V	-	1	0	WDR72	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		36	920	0	0	0	1	0	36	920					T	53889435	C	T	53889435	3	4	79	1	0	0	0	0	1	0	0	0	17376	565	20	2	331	2	WDR72	15	53889435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74009	53889435	48641957	15395	25712											
WDR72	256764	broad.mit.edu	37	chr15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattttgtcttcacaggcAagacattaaaaggtcttggg	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000396328.1	-	15	2242	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	668										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)		CTTCACAGGCAAGACATTAAA	0.343																																						ENST00000396328.1																			0				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						c.(2002-2004)tTg>tCg		WD repeat domain 72							59	57	57					15																	53908400		2193	4292	6485	SO:0001583	missense	256764							g.chr15:53908400A>G	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.2003T>C	15.37:g.53908400A>G	ENSP00000379619:p.Leu668Ser					WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S	p.L668S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2242	-			668					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2003T>C	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598868	0.46318	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39229	1.09;1.09	5.23	5.23	0.72850	.	0.221234	0.31519	N	0.007503	T	0.42314	0.1197	L	0.32530	0.975	0.35638	D	0.810786	P	0.46706	0.883	P	0.49752	0.621	T	0.51379	-0.8713	10	0.33141	T	0.24	.	14.2825	0.66221	1.0:0.0:0.0:0.0	.	668	Q3MJ13	WDR72_HUMAN	S	668	ENSP00000379619:L668S;ENSP00000353699:L668S	ENSP00000353699:L668S	L	-	2	0	WDR72	51695692	0.969000	0.33509	0.979000	0.43373	0.571000	0.35966	2.695000	0.47043	1.972000	0.57404	0.260000	0.18958	TTG		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		40	207	0	0	0	1	0	40	207					G	53908400	A	G	53908400	3	3	79	1	0	0	0	0	1	0	0	0	17376	131	5	4	1329	4	WDR72	15	53908400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18965	53908400	48622992	15396	25713											
UNC13C	440279	broad.mit.edu	37	chr15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgcaacacctctctgGcactcacagagtgatttttt	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000260323.11	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	535					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1603-1605)tgG>tgA		unc-13 homolog C (C. elegans)							58	58	58					15																	54306705		1854	4111	5965	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306705G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1605G>A	15.37:g.54306705G>A	ENSP00000260323:p.Trp535*					UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.W535*	p.W535*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1605	+			535					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.1605G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	39	7.471675	0.98306	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000260323:W535X	W	+	3	0	UNC13C	52093997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.608000	0.88229	0.655000	0.94253	TGG		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		50	188	0	0	0	1	0	50	188					A	54306705	G	A	54306705	4	1	79	1	0	0	0	0	0	1	0	0	17040	1212	42	2	1607	2	UNC13C	15	54306705	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398305	54306705	48224687	15397	25714											
UNC13C	440279	broad.mit.edu	37	chr15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtggagatcacaaaGccaaagagaattcgtccttc	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000260323.11	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	964					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2890-2892)aaG>aaT		unc-13 homolog C (C. elegans)							64	61	62					15																	54307992		1853	4093	5946	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307992G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2892G>T	15.37:g.54307992G>T	ENSP00000260323:p.Lys964Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K964N	p.K964N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2892	+			964					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2892G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311224	0.23821	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.31;-1.32	5.58	4.47	0.54385	.	.	.	.	.	T	0.79161	0.4399	L	0.29908	0.895	0.31722	N	0.638127	D	0.67145	0.996	P	0.54544	0.755	T	0.76531	-0.2925	9	0.25751	T	0.34	.	14.4467	0.67356	0.0835:0.0:0.9165:0.0	.	964	Q8NB66	UN13C_HUMAN	N	964	ENSP00000260323:K964N;ENSP00000438156:K964N;ENSP00000442569:K964N	ENSP00000260323:K964N	K	+	3	2	UNC13C	52095284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.635000	0.89317	0.650000	0.86243	AAG		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		20	69	1	0	1.22574e-08	1	1.28258e-08	20	69					T	54307992	G	T	54307992	3	4	79	1	0	0	0	0	1	0	0	0	17040	962	34	3	2894	3	UNC13C	15	54307992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	54307992	48223400	15398	25715											
UNC13C	440279	broad.mit.edu	37	chr15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaactttgcctattgTccgagatgtggtaagttaca	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000260323.11	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3139-3141)gTc>gCc		unc-13 homolog C (C. elegans)							138	129	132					15																	54527296		1853	4092	5945	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54527296T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3140T>C	15.37:g.54527296T>C	ENSP00000260323:p.Val1047Ala					UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000260323.11_Missense_Mutation_p.V1047A	p.V1047A			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	4	3140	+			1047					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3140T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849672	0.71603	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85411	-1.97;-1.98;-1.94	5.67	5.67	0.87782	.	0.131907	0.49916	D	0.000125	D	0.92028	0.7474	M	0.80332	2.49	0.47862	D	0.999538	D	0.63880	0.993	D	0.70016	0.967	D	0.92958	0.6386	10	0.87932	D	0	.	14.1387	0.65306	0.0:0.0:0.0:1.0	.	1047	Q8NB66	UN13C_HUMAN	A	1047	ENSP00000260323:V1047A;ENSP00000438156:V1047A;ENSP00000442569:V1047A	ENSP00000260323:V1047A	V	+	2	0	UNC13C	52314588	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.601000	0.74136	2.287000	0.76781	0.482000	0.46254	GTC		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		38	160	0	0	0	1	0	38	160					C	54527296	T	C	54527296	3	2	79	1	0	0	0	0	1	0	0	0	17040	1667	58	4	3154	4	UNC13C	15	54527296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219304	54527296	48004096	15399	25716											
UNC13C	440279	broad.mit.edu	37	chr15	54556523	54556523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaaagaagattttgtgcaGtttacaaaggcggccaaaca	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000260323.11	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000545554.1_Silent_p.Q1202Q|UNC13C_ENST00000537900.1_Silent_p.Q1200Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1202					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3604-3606)caG>caA		unc-13 homolog C (C. elegans)							41	40	40					15																	54556523		1804	4061	5865	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556523G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3606G>A	15.37:g.54556523G>A						UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000260323.11_Silent_p.Q1202Q	p.Q1202Q			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	8	3606	+			1202					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3606G>A	CCDS45264.1																																																																																				0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		10	53	0	0	0	1	0	10	53					A	54556523	G	A	54556523	2	1	79	1	0	0	0	0	0	0	0	1	17040	1020	36	2		2	UNC13C	15	54556523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29227	54556523	47974869	15400	25717											
UNC13C	440279	broad.mit.edu	37	chr15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagtgaggaccttgagtgGagaaatggatgtctggtaca	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000260323.11	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3961-3963)gGa>gAa		unc-13 homolog C (C. elegans)							231	233	233					15																	54586236		1871	4103	5974	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586236G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3962G>A	15.37:g.54586236G>A	ENSP00000260323:p.Gly1321Glu					UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321E	p.G1321E			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3962	+			1321					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3962G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915595	0.92178	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72051	-0.62;-0.62;-0.62	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	E	1321;1321;1319	ENSP00000260323:G1321E;ENSP00000438156:G1321E;ENSP00000442569:G1319E	ENSP00000260323:G1321E	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		131	610	0	0	0	1	0	131	610					A	54586236	G	A	54586236	3	1	79	1	0	0	0	0	1	0	0	0	17040	1174	41	2	3996	2	UNC13C	15	54586236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29713	54586236	47945156	15401	25718											
UNC13C	440279	broad.mit.edu	37	chr15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatactgaaagactgcaaGacctgaaatcaactgttgac	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000260323.11	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1511					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGACTGCAAGACCTGAAATC	0.348																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4531-4533)Gac>Aac		unc-13 homolog C (C. elegans)							140	130	133					15																	54626001		1851	4083	5934	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54626001G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4531G>A	15.37:g.54626001G>A	ENSP00000260323:p.Asp1511Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1511N	p.D1511N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4531	+			1511					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4531G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201310	0.94997	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.82;-1.84;-1.83	5.66	5.66	0.87406	.	0.047752	0.85682	D	0.000000	D	0.92685	0.7675	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92876	0.6319	10	0.66056	D	0.02	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1511;1511	F5H090;Q8NB66	.;UN13C_HUMAN	N	1511;1511;1509	ENSP00000260323:D1511N;ENSP00000438156:D1511N;ENSP00000442569:D1509N	ENSP00000260323:D1511N	D	+	1	0	UNC13C	52413293	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	GAC		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	44	0	0	0	1	0	11	44					A	54626001	G	A	54626001	3	1	79	1	0	0	0	0	1	0	0	0	17040	942	33	2	4585	2	UNC13C	15	54626001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39765	54626001	47905391	15402	25719											
UNC13C	440279	broad.mit.edu	37	chr15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcaaatggaaacaccAcatctaataagaacagtgca	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000260323.11	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAAACACCACATCTAATAA	0.313																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5623-5625)Aca>Cca		unc-13 homolog C (C. elegans)							81	82	81					15																	54825191		1824	4090	5914	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825191A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5623A>C	15.37:g.54825191A>C	ENSP00000260323:p.Thr1875Pro					UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P|UNC13C_ENST00000260323.11_Missense_Mutation_p.T1875P	p.T1875P			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	25	5623	+			1875					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5623A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	8.458	0.854665	0.17106	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13901	2.55;2.55;2.55	5.69	-1.44	0.08856	.	0.457329	0.24452	N	0.038410	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.24974	0.057	T	0.36529	-0.9744	10	0.30078	T	0.28	.	6.431	0.21796	0.4589:0.0:0.4189:0.1221	.	1875	Q8NB66	UN13C_HUMAN	P	1875;1875;1873	ENSP00000260323:T1875P;ENSP00000438156:T1875P;ENSP00000442569:T1873P	ENSP00000260323:T1875P	T	+	1	0	UNC13C	52612483	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.379000	0.07437	-0.249000	0.09569	0.459000	0.35465	ACA		0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	52	0	0	0	1	0	9	52					C	54825191	A	C	54825191	3	2	79	1	0	0	0	0	1	0	0	0	17040	159	6	4	5717	4	UNC13C	15	54825191	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199190	54825191	47706201	15403	25720											
RSL24D1	51187	broad.mit.edu	37	chr15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgacttactagttttaTtccatagctctcgctggtat	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	87					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313																																						ENST00000260443.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						c.(259-261)aAt>aTt		ribosomal L24 domain containing 1							107	105	106					15																	55483181		2193	4289	6482	SO:0001583	missense	51187				ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome	g.chr15:55483181T>A	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"chromosome 15 open reading frame 15"	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.260A>T	15.37:g.55483181T>A	ENSP00000260443:p.Asn87Ile						p.N87I	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN			3	436	-			87					B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	ENST00000260443.4	37	c.260A>T	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083419	0.36758	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.99	2.61	0.31194	.	0.365309	0.34067	N	0.004288	T	0.37348	0.1000	L	0.38175	1.15	0.39358	D	0.965879	P	0.40398	0.716	B	0.37833	0.259	T	0.11203	-1.0597	9	0.35671	T	0.21	-35.9334	7.1273	0.25479	0.0:0.1844:0.0:0.8156	.	87	Q9UHA3	RLP24_HUMAN	I	87	.	ENSP00000260443:N87I	N	-	2	0	RSL24D1	53270473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.726000	0.25984	0.316000	0.23135	-0.290000	0.09829	AAT		0.313	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304		28	130	0	0	0	1	0	28	130					A	55483181	T	A	55483181	3	1	79	1	0	0	0	0	1	0	0	0	13751	1493	52	5	247	5	RSL24D1	15	55483181	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657990	55483181	47048211	15404	25721											
RAB27A	5873	broad.mit.edu	37	chr15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcacccatatttctctgCgagtgctatggcttcctcct	6	14	2	0	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). {ECO:0000269|PubMed:10835631}.		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9	GRCh37	CM001324	RAB27A	M	rs104894499	c.(454-456)Gca>Aca		RAB27A, member RAS oncogene family							177	181	180					15																	55516100		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55516100C>T	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	15.37:g.55516100C>T	ENSP00000379601:p.Ala152Thr					RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T	p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	5	705	-			152		A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).			O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.454G>A	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA		0.393	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		212	1040	0	0	0	1	0	212	1040					T	55516100	C	T	55516100	3	4	79	1	0	0	0	0	1	0	0	0	12964	768	27	1	219	1	RAB27A	15	55516100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32919	55516100	47015292	15405	25722											
PIGB	9488	broad.mit.edu	37	chr15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcaagcatttacaagattCttcatcttttagggaaagat	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	RP11-139H15.1_ENST00000436697.2_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000565225.1_RNA|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	128					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(382-384)Ctt>Att		phosphatidylinositol glycan anchor biosynthesis, class B							88	83	84					15																	55613553		1817	4077	5894	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55613553C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.382C>A	15.37:g.55613553C>A	ENSP00000164305:p.Leu128Ile					PIGB_ENST00000539642.1_Intron	p.L128I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	3	673	+			128					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.382C>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314419	0.60524	.	.	ENSG00000069943	ENST00000164305	T	0.66638	-0.22	4.77	3.85	0.44370	.	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.78981	-0.1989	10	0.49607	T	0.09	-8.4769	9.1361	0.36875	0.0:0.9004:0.0:0.0996	.	128	Q92521	PIGB_HUMAN	I	128	ENSP00000164305:L128I	ENSP00000164305:L128I	L	+	1	0	PIGB	53400845	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.935000	0.28924	1.223000	0.43536	0.650000	0.86243	CTT		0.338	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		13	60	1	0	1.49906e-05	1	1.53515e-05	13	60					A	55613553	C	A	55613553	3	1	79	1	0	0	0	0	1	0	0	0	11927	913	32	3	392	3	PIGB	15	55613553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97453	55613553	46917839	15406	25723											
PRTG	283659	broad.mit.edu	37	chr15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaagggtcttgagaagCtggttgtctgacctggggag	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3298-3300)aGc>aAc		protogenin							112	110	111					15																	55912364		1893	4115	6008	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55912364C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3299G>A	15.37:g.55912364C>T	ENSP00000373937:p.Ser1100Asn						p.S1100N	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3346	-			1100						Missense_Mutation	SNP	ENST00000389286.4	37	c.3299G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817317	0.16607	.	.	ENSG00000166450	ENST00000389286	T	0.53640	0.61	5.84	-0.687	0.11320	.	0.386496	0.30501	N	0.009484	T	0.28167	0.0695	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02950	-1.1090	10	0.36615	T	0.2	-6.4774	5.4248	0.16419	0.0:0.3966:0.2439:0.3595	.	1100	Q2VWP7	PRTG_HUMAN	N	1100	ENSP00000373937:S1100N	ENSP00000373937:S1100N	S	-	2	0	PRTG	53699656	0.001000	0.12720	0.912000	0.35992	0.489000	0.33432	-0.035000	0.12205	-0.109000	0.12044	-0.808000	0.03180	AGC		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		71	387	0	0	0	1	0	71	387					T	55912364	C	T	55912364	3	4	79	1	0	0	0	0	1	0	0	0	12685	797	28	2	157	2	PRTG	15	55912364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298811	55912364	46619028	15407	25724											
PRTG	283659	broad.mit.edu	37	chr15	55964693	55964693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtatccaagaaaatgggcCcattctcctgctgcccttct	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964693C>A	ENST00000389286.4	-	11	2038	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAATGGGCCCATTCTCCTG	0.463																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1990-1992)gGg>gTg		protogenin							130	134	133					15																	55964693		1949	4137	6086	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55964693C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1991G>T	15.37:g.55964693C>A	ENSP00000373937:p.Gly664Val						p.G664V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	2038	-			664			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1991G>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459123	0.63401	.	.	ENSG00000166450	ENST00000389286	T	0.56776	0.44	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.229954	0.43416	D	0.000576	T	0.49762	0.1576	L	0.46670	1.46	0.80722	D	1	P	0.49185	0.92	B	0.42462	0.388	T	0.44065	-0.9352	10	0.26408	T	0.33	-15.9296	18.4581	0.90728	0.0:1.0:0.0:0.0	.	664	Q2VWP7	PRTG_HUMAN	V	664	ENSP00000373937:G664V	ENSP00000373937:G664V	G	-	2	0	PRTG	53751985	0.997000	0.39634	0.919000	0.36401	0.733000	0.41908	4.482000	0.60257	2.591000	0.87537	0.650000	0.86243	GGG		0.463	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		18	442	1	0	8.28177e-16	1	9.06825e-16	18	442					A	55964693	C	A	55964693	3	1	79	1	0	0	0	0	1	0	0	0	12685	623	22	3	1501	3	PRTG	15	55964693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52329	55964693	46566699	15408	25725											
PRTG	283659	broad.mit.edu	37	chr15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtagtacagcttgtagCcctgaatagcagctgtgtcc	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1948-1950)gGc>gAc		protogenin							119	118	119					15																	55964735		1950	4125	6075	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55964735C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1949G>A	15.37:g.55964735C>T	ENSP00000373937:p.Gly650Asp						p.G650D	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	1996	-			650			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1949G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004642	0.93287	.	.	ENSG00000166450	ENST00000389286	T	0.37235	1.21	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267337	0.42964	D	0.000640	T	0.68787	0.3039	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75439	-0.3317	10	0.72032	D	0.01	-15.1368	18.4581	0.90728	0.0:1.0:0.0:0.0	.	650	Q2VWP7	PRTG_HUMAN	D	650	ENSP00000373937:G650D	ENSP00000373937:G650D	G	-	2	0	PRTG	53752027	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.537000	0.82033	2.591000	0.87537	0.650000	0.86243	GGC		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		71	283	0	0	0	1	0	71	283					T	55964735	C	T	55964735	3	4	79	1	0	0	0	0	1	0	0	0	12685	739	26	2	1543	2	PRTG	15	55964735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	55964735	46566657	15409	25726											
PRTG	283659	broad.mit.edu	37	chr15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttaggcggaaagacaagCgatacagcaccacttggccc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1657-1659)cGc>cAc		protogenin							106	112	110					15																	55965763		1914	4113	6027	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965763C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1658G>A	15.37:g.55965763C>T	ENSP00000373937:p.Arg553His						p.R553H	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1705	-			553			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1658G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872775	0.72180	.	.	ENSG00000166450	ENST00000389286	T	0.58940	0.3	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058015	0.64402	D	0.000001	T	0.57961	0.2089	M	0.67625	2.065	0.80722	D	1	P	0.35328	0.495	B	0.33254	0.16	T	0.64309	-0.6438	10	0.59425	D	0.04	-12.1641	17.4907	0.87702	0.0:1.0:0.0:0.0	.	553	Q2VWP7	PRTG_HUMAN	H	553	ENSP00000373937:R553H	ENSP00000373937:R553H	R	-	2	0	PRTG	53753055	1.000000	0.71417	0.654000	0.29608	0.810000	0.45777	5.601000	0.67606	2.428000	0.82296	0.655000	0.94253	CGC		0.512	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		98	518	0	0	0	1	0	98	518					T	55965763	C	T	55965763	3	4	79	1	0	0	0	0	1	0	0	0	12685	768	27	1	1838	1	PRTG	15	55965763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028	55965763	46565629	15410	25727											
PRTG	283659	broad.mit.edu	37	chr15	55972411	55972411	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatcaatggatttgtgatCtatttcaaagagaatacttc	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1		RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.e6-1		protogenin							57	53	54					15																	55972411		1837	4088	5925	SO:0001630	splice_region_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55972411C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.815-1G>T	15.37:g.55972411C>A								NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	6	862	-									Splice_Site	SNP	ENST00000389286.4	37		CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134080	0.77662	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRTG	53759703	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.583000	0.82559	2.809000	0.96659	0.467000	0.42956	.		0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	Intron	32	131	1	0	6.00712e-18	1	6.65163e-18	32	131					A	55972411	C	A	55972411	5	1	79	1	0	0	0	0	0	0	1	0	12685	927	32	3	2698	3	PRTG	15	55972411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6648	55972411	46558981	15411	25728											
NEDD4	4734	broad.mit.edu	37	chr15	56132913	56132913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttggatttatctgtagGgtataattgtccctgtaaag	11	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000508342.1	-	16	3407	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000506154.1_Silent_p.T1020T|NEDD4_ENST00000435532.3_Silent_p.T617T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1036	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTATCTGTAGGGTATAATTGT	0.343																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3106-3108)acC>acT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							128	138	135					15																	56132913		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132913G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3108C>T	15.37:g.56132913G>A						NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T	p.T1036T			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	16	3407	-			1036			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.3108C>T		.	.	.	.	.	.	.	.	.	.	G	8.466	0.856497	0.17106	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.96	3.05	0.35203	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	4.4455	0.11595	0.2991:0.0:0.5536:0.1473	.	.	.	.	L	627	.	.	P	-	2	0	NEDD4	53920205	0.658000	0.27402	0.998000	0.56505	0.998000	0.95712	-0.196000	0.09532	0.398000	0.25338	0.655000	0.94253	CCC		0.343	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		57	594	0	0	0	1	0	57	594					A	56132913	G	A	56132913	2	1	79	1	0	0	0	0	0	0	0	1	10352	1219	43	2		2	NEDD4	15	56132913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160502	56132913	46398479	15412	25729											
NEDD4	4734	broad.mit.edu	37	chr15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatactttcttttgtaatcCctggagtagggcactgcctt	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000508342.1	-	14	3116	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	939	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGTAATCCCTGGAGTAGG	0.299																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2815-2817)agG>agT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							56	55	56					15																	56139215		2192	4286	6478	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56139215C>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2817G>T	15.37:g.56139215C>A	ENSP00000424827:p.Arg939Ser					NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S	p.R939S			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	14	3116	-			939			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2817G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807542|3.807542	0.70797|0.70797	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.24538	.|1.85;1.95;1.89;1.87	5.95|5.95	3.29|3.29	0.37713|0.37713	.|HECT (1);	.|0.122035	.|0.85682	.|D	.|0.000000	T|T	0.52757|0.52757	0.1754|0.1754	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.993;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.995;0.912;0.933;0.952	T|T	0.58741|0.58741	-0.7583|-0.7583	5|10	.|0.87932	.|D	.|0	.|.	9.2975|9.2975	0.37824|0.37824	0.0:0.6987:0.0:0.3013|0.0:0.6987:0.0:0.3013	.|.	.|923;520;939;867	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	530|939;520;867;923	.|ENSP00000424827:R939S;ENSP00000410613:R520S;ENSP00000345530:R867S;ENSP00000422705:R923S	.|ENSP00000345530:R867S	G|R	-|-	2|3	0|2	NEDD4|NEDD4	53926507|53926507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.470000|1.470000	0.35354|0.35354	1.167000|1.167000	0.42706|0.42706	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.299	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		36	178	1	0	2.05212e-20	1	2.2997e-20	36	178					A	56139215	C	A	56139215	3	1	79	1	0	0	0	0	1	0	0	0	10352	622	22	3	1190	3	NEDD4	15	56139215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6302	56139215	46392177	15413	25730											
RFX7	64864	broad.mit.edu	37	chr15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaacaggtctttaacaGtgctattgaaatctaattgt	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000559447.2	-	9	4026	c.3755C>T	c.(3754-3756)aCt>aTt	p.T1252I	RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1252					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						GTCTTTAACAGTGCTATTGAA	0.423																																						ENST00000423270.1																			0				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						c.(4045-4047)aCt>aTt		regulatory factor X, 7							98	93	94					15																	56385880		1907	4119	6026	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56385880G>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.3755C>T	15.37:g.56385880G>A	ENSP00000453281:p.Thr1252Ile					RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000559447.2_Missense_Mutation_p.T1252I	p.T1349I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	4045	-			1252					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.4046C>T		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307294	0.60305	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.63255	0.06;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.74386	-0.3682	10	0.87932	D	0	-18.6485	19.1131	0.93326	0.0:0.0:1.0:0.0	.	1252;1252	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	1252;1349;1349	ENSP00000387504:T1252I;ENSP00000313299:T1349I;ENSP00000397644:T1349I	ENSP00000313299:T1349I	T	-	2	0	RFX7	54173172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.832000	0.97577	0.655000	0.94253	ACT		0.423	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		28	166	0	0	0	1	0	28	166					A	56385880	G	A	56385880	3	1	79	1	0	0	0	0	1	0	0	0	13318	1029	36	2	340	2	RFX7	15	56385880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246665	56385880	46145512	15414	25731											
RFX7	64864	broad.mit.edu	37	chr15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcagatgttccccccGcactgctgctcctggaccca	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000559447.2	-	9	1566	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RFX7_ENST00000423270.1_Missense_Mutation_p.A529V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000422057.1_Missense_Mutation_p.A432V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	432					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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						TGTTCCCCCCGCACTGCTGCT	0.512																																						ENST00000423270.1																			0				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						c.(1585-1587)gCg>gTg		regulatory factor X, 7							66	66	66					15																	56388340		2026	4180	6206	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388340G>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.1295C>T	15.37:g.56388340G>A	ENSP00000453281:p.Ala432Val					RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000559447.2_Missense_Mutation_p.A432V	p.A529V	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1585	-			432					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1586C>T		.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077149	0.01903	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.66;0.66	5.23	4.31	0.51392	.	0.777644	0.11207	N	0.588138	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.25187	-1.0139	10	0.52906	T	0.07	0.0044	13.119	0.59314	0.0782:0.0:0.9218:0.0	.	432;432	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	432;529;529	ENSP00000387504:A432V;ENSP00000313299:A529V;ENSP00000397644:A529V	ENSP00000313299:A529V	A	-	2	0	RFX7	54175632	0.000000	0.05858	0.338000	0.25549	0.666000	0.39218	0.620000	0.24403	1.181000	0.42912	0.655000	0.94253	GCG		0.512	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		30	105	0	0	0	1	0	30	105					A	56388340	G	A	56388340	3	1	79	1	0	0	0	0	1	0	0	0	13318	1087	38	1	2800	1	RFX7	15	56388340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2460	56388340	46143052	15415	25732											
ZNF280D	54816	broad.mit.edu	37	chr15	56923986	56923986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatctgatgctaatcgcaAatccttaatattctttgaag	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000267807.7	-	22	2866	c.2650T>C	c.(2650-2652)Ttg>Ctg	p.L884L	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Silent_p.L871L	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	884					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2611-2613)Ttg>Ctg		zinc finger protein 280D							120	118	119					15																	56923986		2192	4292	6484	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56923986A>G	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2650T>C	15.37:g.56923986A>G						ZNF280D_ENST00000267807.7_Silent_p.L884L	p.L871L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3294	-			884					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.2611T>C	CCDS32245.1																																																																																				0.348	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		67	322	0	0	0	1	0	67	322					G	56923986	A	G	56923986	2	3	79	1	0	0	0	0	0	0	0	1	17870	11	1	4		4	ZNF280D	15	56923986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535646	56923986	45607406	15416	25733											
ZNF280D	54816	broad.mit.edu	37	chr15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgcaaaatcttttatttCggaacaacactcaatgcatt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000267807.7	-	16	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1855-1857)Gaa>Aaa		zinc finger protein 280D							95	89	91					15																	56958693		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958693C>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1894G>A	15.37:g.56958693C>T	ENSP00000267807:p.Glu632Lys					ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K|ZNF280D_ENST00000267807.7_Missense_Mutation_p.E632K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K	p.E619K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	15	2538	-			632					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1855G>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325527	0.24080	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03242	4.0;4.48	4.96	4.03	0.46877	.	0.898672	0.09068	U	0.853314	T	0.04952	0.0133	L	0.39085	1.19	0.32489	N	0.540437	B;B	0.28880	0.115;0.226	B;B	0.27380	0.025;0.079	T	0.24905	-1.0147	10	0.27785	T	0.31	-22.9372	14.0291	0.64604	0.1524:0.8476:0.0:0.0	.	695;632	B4DHL1;Q6N043	.;Z280D_HUMAN	K	632;619;336	ENSP00000267807:E632K;ENSP00000379545:E336K	ENSP00000267807:E632K	E	-	1	0	ZNF280D	54745985	0.999000	0.42202	0.962000	0.40283	0.991000	0.79684	4.260000	0.58835	1.193000	0.43086	0.467000	0.42956	GAA		0.333	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		85	358	0	0	0	1	0	85	358					T	56958693	C	T	56958693	3	4	79	1	0	0	0	0	1	0	0	0	17870	893	31	1	1073	1	ZNF280D	15	56958693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34707	56958693	45572699	15417	25734											
ZNF280D	54816	broad.mit.edu	37	chr15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgttggtcccccttggTaatgtgataatcctgtatcc	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000267807.7	-	7	686	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCCCCTTGGTAATGTGATAA	0.343																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(430-432)tAc>tGc		zinc finger protein 280D							92	86	88					15																	56985325		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56985325T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.470A>G	15.37:g.56985325T>C	ENSP00000267807:p.Tyr157Cys					ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y157C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C	p.Y144C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	6	1114	-			157					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.431A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938903	0.52972	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.25414	1.8	5.73	3.35	0.38373	.	.	.	.	.	T	0.33904	0.0879	L	0.34521	1.04	0.80722	D	1	D;D	0.56035	0.974;0.971	P;P	0.62813	0.907;0.855	T	0.01739	-1.1284	9	0.45353	T	0.12	-5.1008	10.3731	0.44066	0.262:0.0:0.0:0.738	.	220;157	B4DHL1;Q6N043	.;Z280D_HUMAN	C	157;144	ENSP00000267807:Y157C	ENSP00000267807:Y157C	Y	-	2	0	ZNF280D	54772617	1.000000	0.71417	0.355000	0.25773	0.983000	0.72400	2.039000	0.41193	0.398000	0.25338	0.477000	0.44152	TAC		0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		44	209	0	0	0	1	0	44	209					C	56985325	T	C	56985325	3	2	79	1	0	0	0	0	1	0	0	0	17870	1638	57	4	2533	4	ZNF280D	15	56985325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26632	56985325	45546067	15418	25735											
CGNL1	84952	broad.mit.edu	37	chr15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggaatgtgccatccatGccgacaacgtcaatcgtcat	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	323	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCATCCATGCCGACAACGT	0.498																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(967-969)Gcc>Acc		cingulin-like 1							59	54	56					15																	57731164		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731164G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.967G>A	15.37:g.57731164G>A	ENSP00000281282:p.Ala323Thr						p.A323T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1045	+			323			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.967G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531946	0.85706	.	.	ENSG00000128849	ENST00000281282	T	0.49432	0.78	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.61640	0.2363	L	0.57536	1.79	0.39778	D	0.972257	D	0.57899	0.981	P	0.54924	0.764	T	0.64984	-0.6278	10	0.72032	D	0.01	-23.2504	19.8119	0.96549	0.0:0.0:1.0:0.0	.	323	Q0VF96	CGNL1_HUMAN	T	323	ENSP00000281282:A323T	ENSP00000281282:A323T	A	+	1	0	CGNL1	55518456	1.000000	0.71417	0.220000	0.23810	0.979000	0.70002	4.174000	0.58256	2.664000	0.90586	0.655000	0.94253	GCC		0.498	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		40	198	0	0	0	1	0	40	198					A	57731164	G	A	57731164	3	1	79	1	0	0	0	0	1	0	0	0	3313	1319	46	2	969	2	CGNL1	15	57731164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	745839	57731164	44800228	15419	25736											
CGNL1	84952	broad.mit.edu	37	chr15	57754064	57754064	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagttgcaggccctgAgggagagtgtggaagaagca	17	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	793						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGCCCTGAGGGAGAGTGT	0.537																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2377-2379)Agg>Cgg		cingulin-like 1							89	84	86					15																	57754064		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57754064A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2377A>C	15.37:g.57754064A>C							p.R793R	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	8	2455	+			793					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.2377A>C	CCDS10161.1																																																																																				0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		45	242	0	0	0	1	0	45	242					C	57754064	A	C	57754064	2	2	79	1	0	0	0	0	0	0	0	1	3313	295	11	4		4	CGNL1	15	57754064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22900	57754064	44777328	15420	25737											
GCOM1	100820829	broad.mit.edu	37	chr15	57913875	57913875	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagatgagacagaagattCgacagctcacccaggaacta	10	9	1	4	rs375289402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57913875C>T	ENST00000267853.5	+	4	482	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.R130*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	130					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											ACAGAAGATTCGACAGCTCAC	0.473																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(388-390)Cga>Tga									136	122	127					15																	57913875		2192	4292	6484	SO:0001587	stop_gained	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913875C>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.388C>T	15.37:g.57913875C>T	ENSP00000267853:p.Arg130*					GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*	p.R130*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	507	+			130					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	ENST00000267853.5	37	c.388C>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255429	0.59321	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.66	4.68	0.58851	.	0.242441	0.41938	D	0.000792	.	.	.	.	.	.	0.31469	N	0.668644	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-1.2411	8.742	0.34562	0.2593:0.6028:0.138:0.0	.	.	.	.	X	130	.	ENSP00000267853:R130X	R	+	1	2	GCOM1	55701167	0.064000	0.20934	0.931000	0.37212	0.058000	0.15608	1.522000	0.35921	2.827000	0.97445	0.643000	0.83706	CGA		0.473	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		51	251	0	0	0	1	0	51	251					T	57913875	C	T	57913875	4	4	79	1	0	0	0	0	0	1	0	0	6332	876	31	1	402	1	GCOM1	15	57913875	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159811	57913875	44617517	15421	25738											
ADAM10	102	broad.mit.edu	37	chr15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaagtgtccctcttcattCgtaggttgaaatgtctgtaa	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(220-222)cGa>cAa		ADAM metallopeptidase domain 10							75	76	76					15																	58974499		2192	4289	6481	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58974499C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.221G>A	15.37:g.58974499C>T	ENSP00000260408:p.Arg74Gln					ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	p.R74Q	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	3	664	-			74					B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.221G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697421	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06449	3.3;3.3	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66506	2.035	0.80722	D	1	P;P	0.42518	0.769;0.782	B;B	0.43386	0.322;0.418	T	0.02081	-1.1217	10	0.30854	T	0.27	-29.3089	19.7476	0.96257	0.0:1.0:0.0:0.0	.	74;74	A0AV88;O14672	.;ADA10_HUMAN	Q	74	ENSP00000260408:R74Q;ENSP00000391930:R74Q	ENSP00000260408:R74Q	R	-	2	0	ADAM10	56761791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.678000	0.91216	0.591000	0.81541	CGA		0.299	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	201	0	0	0	1	0	5	201					T	58974499	C	T	58974499	3	4	79	1	0	0	0	0	1	0	0	0	234	884	31	1	2081	1	ADAM10	15	58974499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060624	58974499	43556893	15422	25739											
FAM63B	54629	broad.mit.edu	37	chr15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatctccgagcctggactctCtggagtcgttctctaacctg	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	176										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGACTCTCTGGAGTCGTT	0.647																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(526-528)Ctg>Atg		family with sequence similarity 63, member B							23	25	24					15																	59064120		1868	4095	5963	SO:0001583	missense	54629							g.chr15:59064120C>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.526C>A	15.37:g.59064120C>A	ENSP00000452885:p.Leu176Met					FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M	p.L176M			Q8NBR6	FA63B_HUMAN			1	608	+			176					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.526C>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513697	0.85389	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60040	0.22	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.62048	0.2396	N	0.24115	0.695	0.48901	D	0.999725	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.62803	-0.6777	10	0.34782	T	0.22	-22.5119	15.8313	0.78752	0.0:1.0:0.0:0.0	.	176;176	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	176	ENSP00000393231:L176M	ENSP00000326194:L176M	L	+	1	2	FAM63B	56851412	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	2.083000	0.41615	1.938000	0.56188	0.543000	0.68304	CTG		0.647	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		37	205	1	0	1.36161e-19	1	1.52027e-19	37	205					A	59064120	C	A	59064120	3	1	79	1	0	0	0	0	1	0	0	0	5622	912	32	3	528	3	FAM63B	15	59064120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89621	59064120	43467272	15423	25740											
RNF111	54778	broad.mit.edu	37	chr15	59323801	59323801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagttccagtgagaatgaCctcagcagtgaatcctcttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000557998.1	+	2	1067	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000348370.4_Silent_p.D260D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	260	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAGAATGACCTCAGCAGTG	0.413																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(778-780)gaC>gaT		ring finger protein 111							134	131	132					15																	59323801		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323801C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.780C>T	15.37:g.59323801C>T						RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000557998.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000559209.1_Silent_p.D260D	p.D260D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	1213	+			260			Interaction with AXIN1.|Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.780C>T	CCDS58366.1																																																																																				0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		96	515	0	0	0	1	0	96	515					T	59323801	C	T	59323801	2	4	79	1	0	0	0	0	0	0	0	1	13475	506	18	2		2	RNF111	15	59323801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259681	59323801	43207591	15424	25741											
RNF111	54778	broad.mit.edu	37	chr15	59344625	59344625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtaacagttggagaaagCtatcggtgagattttaattc	10	4	0	2	rs376450850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000557998.1	+	3	1289	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000348370.4_Silent_p.S334S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	334	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGGAGAAAGCTATCGGTGAG	0.313																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1000-1002)agC>agT		ring finger protein 111							101	90	94					15																	59344625		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59344625C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1002C>T	15.37:g.59344625C>T						RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000557998.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000559209.1_Silent_p.S334S	p.S334S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	3	1435	+			334			Interaction with AXIN1.|Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.1002C>T	CCDS58366.1																																																																																				0.313	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		71	271	0	0	0	1	0	71	271					T	59344625	C	T	59344625	2	4	79	1	0	0	0	0	0	0	0	1	13475	796	28	2		2	RNF111	15	59344625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20824	59344625	43186767	15425	25742											
RNF111	54778	broad.mit.edu	37	chr15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcgcagccccagccccaGccccctccacagccctctct	7	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000557998.1	+	7	2183	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000348370.4_Missense_Mutation_p.Q632H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	632	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCCAGCCCCAGCCCCCTCCAC	0.507																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1894-1896)caG>caT		ring finger protein 111							98	105	103					15																	59368362		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59368362G>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1896G>T	15.37:g.59368362G>T	ENSP00000452732:p.Gln632His					RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000557998.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H	p.Q632H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	7	2329	+			632			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1896G>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353369	0.61293	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.27	5.55	3.69	0.42338	.	0.060419	0.64402	D	0.000002	T	0.19327	0.0464	N	0.24115	0.695	0.44366	D	0.99726	D;D;D	0.64830	0.993;0.989;0.994	P;P;P	0.62740	0.891;0.781;0.906	T	0.07693	-1.0759	10	0.34782	T	0.22	-11.2479	4.6727	0.12698	0.2388:0.0:0.608:0.1532	.	632;632;632	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	632	ENSP00000288199:Q632H;ENSP00000393641:Q632H	ENSP00000288199:Q632H	Q	+	3	2	RNF111	57155654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.639000	0.37176	0.831000	0.34780	-0.259000	0.10710	CAG		0.507	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		124	670	1	0	2.82925e-58	1	3.54705e-58	124	670					T	59368362	G	T	59368362	3	4	79	1	0	0	0	0	1	0	0	0	13475	962	34	3	1918	3	RNF111	15	59368362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23737	59368362	43163030	15426	25743											
CCNB2	9133	broad.mit.edu	37	chr15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcatgtgactattaggcGaactgttttagaagaaattg	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	32					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(94-96)cGa>cAa		cyclin B2							78	77	77					15																	59399591		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59399591G>A	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.95G>A	15.37:g.59399591G>A	ENSP00000288207:p.Arg32Gln					CCNB2_ENST00000559622.1_Intron	p.R32Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			2	286	+			32					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.95G>A	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565353	0.65651	.	.	ENSG00000157456	ENST00000288207	T	0.22539	1.95	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	15.4855	0.75564	0.0:0.0:1.0:0.0	.	32	O95067	CCNB2_HUMAN	Q	32	ENSP00000288207:R32Q	ENSP00000288207:R32Q	R	+	2	0	CCNB2	57186883	1.000000	0.71417	0.356000	0.25785	0.461000	0.32589	6.531000	0.73820	2.410000	0.81850	0.563000	0.77884	CGA		0.353	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		63	261	0	0	0	1	0	63	261					A	59399591	G	A	59399591	3	1	79	1	0	0	0	0	1	0	0	0	2922	1058	37	1	101	1	CCNB2	15	59399591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31229	59399591	43131801	15427	25744											
BNIP2	663	broad.mit.edu	37	chr15	59964895	59964895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctactttcaggcatgaaacaGacagcaaacacaacaatggc	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000607373.1	-	6	718	c.516C>T	c.(514-516)gtC>gtT	p.V172V	BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000267859.3_Silent_p.V293V|AC092755.4_ENST00000441746.1_RNA	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	172	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333																																					Ovarian(174;1936 1978 6671 8240 38212)	ENST00000267859.3																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(877-879)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 2							101	101	101					15																	59964895		2190	4290	6480	SO:0001819	synonymous_variant	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59964895G>A	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.516C>T	15.37:g.59964895G>A						BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000607373.1_Silent_p.V172V	p.V293V			Q12982	BNIP2_HUMAN			6	972	-			172			CRAL-TRIO.		B4DS94	Silent	SNP	ENST00000607373.1	37	c.879C>T																																																																																					0.333	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		40	257	0	0	0	1	0	40	257					A	59964895	G	A	59964895	2	1	79	1	0	0	0	0	0	0	0	1	1479	929	33	2		2	BNIP2	15	59964895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	565304	59964895	42566497	15428	25745											
FOXB1	27023	broad.mit.edu	37	chr15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtacctgcagcagcaggCcaagctgcggctcagcgcgc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	133					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(397-399)gCc>gTc		forkhead box B1							7	8	7					15																	60297560		2055	4057	6112	SO:0001583	missense	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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.chr15:60297560C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.398C>T	15.37:g.60297560C>T	ENSP00000379369:p.Ala133Val					FOXB1_ENST00000560857.1_Intron	p.A133V	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	877	+			133					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.398C>T	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846310	0.71603	.	.	ENSG00000171956	ENST00000396057	D	0.96300	-3.97	4.11	4.11	0.48088	.	0.273372	0.31370	U	0.007767	D	0.94218	0.8144	L	0.55481	1.735	0.58432	D	0.999999	B	0.26744	0.158	B	0.26864	0.074	D	0.92964	0.6391	10	0.38643	T	0.18	.	15.073	0.72053	0.0:1.0:0.0:0.0	.	133	Q99853	FOXB1_HUMAN	V	133	ENSP00000379369:A133V	ENSP00000379369:A133V	A	+	2	0	FOXB1	58084852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.091000	0.63221	0.650000	0.86243	GCC		0.721	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			23	102	0	0	0	1	0	23	102					T	60297560	C	T	60297560	3	4	79	1	0	0	0	0	1	0	0	0	6017	739	26	2	400	2	FOXB1	15	60297560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332665	60297560	42233832	15429	25746											
NARG2	79664	broad.mit.edu	37	chr15	60720793	60720793	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttatacaaattgtaTgctgtcctagtaacttttcc	6	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60720793T>G	ENST00000261520.4	-	15	2889	c.2655A>C	c.(2653-2655)gcA>gcC	p.A885A	NARG2_ENST00000439632.1_Silent_p.A748A	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAATTGTATGCTGTCCTAG	0.428																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2653-2655)gcA>gcC		NMDA receptor regulated 2							78	76	77					15																	60720793		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60720793T>G																												ENST00000261520.4:c.2655A>C	15.37:g.60720793T>G						NARG2_ENST00000439632.1_Silent_p.A748A	p.A885A	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			15	2889	-			885						Silent	SNP	ENST00000261520.4	37	c.2655A>C	CCDS10176.1																																																																																				0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			7	289	0	0	0	1	0	7	289					G	60720793	T	G	60720793	2	3	79	1	0	0	0	0	0	0	0	1	10210	1451	51	4		4	NARG2	15	60720793	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423233	60720793	41810599	15430	25747											
NARG2	79664	broad.mit.edu	37	chr15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttagaatgtgttggaGgatgttaaataaattggaaa	10	1	1	1	rs531287375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		12634	0.0		0.0	False		,,,				2504	0.001					ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2533-2535)Ctc>Ttc		NMDA receptor regulated 2							53	61	58					15																	60724161		2199	4285	6484	SO:0001583	missense	79664					nucleus		g.chr15:60724161G>A																												ENST00000261520.4:c.2533C>T	15.37:g.60724161G>A	ENSP00000261520:p.Leu845Phe					NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	p.L845F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			14	2767	-			845						Missense_Mutation	SNP	ENST00000261520.4	37	c.2533C>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102634	0.76983	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.89	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.146650	0.47455	D	0.000237	T	0.77384	0.4122	M	0.65498	2.005	0.45118	D	0.998131	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	9	0.87932	D	0	-9.5329	15.8264	0.78709	0.0:0.0:1.0:0.0	.	845	Q659A1	NARG2_HUMAN	F	845;708	.	ENSP00000261520:L845F	L	-	1	0	NARG2	58511453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.639000	0.89480	0.650000	0.86243	CTC		0.279	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			17	112	0	0	0	1	0	17	112					A	60724161	G	A	60724161	3	1	79	1	0	0	0	0	1	0	0	0	10210	1000	35	2	427	2	NARG2	15	60724161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3368	60724161	41807231	15431	25748											
NARG2	79664	broad.mit.edu	37	chr15	60741867	60741867	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcctgctttgggggcTgtaggagcatctgtcatgtt	14	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1297-1299)acA>acC		NMDA receptor regulated 2							157	133	141					15																	60741867		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60741867T>G																												ENST00000261520.4:c.1299A>C	15.37:g.60741867T>G						NARG2_ENST00000439632.1_Silent_p.T296T	p.T433T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			10	1533	-			433						Silent	SNP	ENST00000261520.4	37	c.1299A>C	CCDS10176.1																																																																																				0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			144	530	0	0	0	1	0	144	530					G	60741867	T	G	60741867	2	3	79	1	0	0	0	0	0	0	0	1	10210	1567	55	4		4	NARG2	15	60741867	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17706	60741867	41789525	15432	25749											
NARG2	79664	broad.mit.edu	37	chr15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatgcaagctcttaaaAttttctgagaaacagaaatt	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(532-534)aTt>aGt		NMDA receptor regulated 2							44	50	48					15																	60748989		2200	4295	6495	SO:0001583	missense	79664					nucleus		g.chr15:60748989A>C																												ENST00000261520.4:c.533T>G	15.37:g.60748989A>C	ENSP00000261520:p.Ile178Ser					NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			6	767	-			178						Missense_Mutation	SNP	ENST00000261520.4	37	c.533T>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT		0.303	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			35	208	0	0	0	1	0	35	208					C	60748989	A	C	60748989	3	2	79	1	0	0	0	0	1	0	0	0	10210	101	4	4	2459	4	NARG2	15	60748989	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	60748989	41782403	15433	25750											
RORA	6095	broad.mit.edu	37	chr15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcccgtcaatgtagtTactgaggtcgtcgtgaagtt	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	202	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(604-606)Aac>Gac		RAR-related orphan receptor A							205	151	169					15																	60803641		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60803641T>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.604A>G	15.37:g.60803641T>C	ENSP00000335087:p.Asn202Asp					RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RORA_ENST00000449337.2_Missense_Mutation_p.N147D	p.N202D	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			5	704	-			235			Hinge.|Poly-Gln.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.604A>G	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184127	0.57800	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	4.78	0.61160	.	0.345548	0.38111	N	0.001813	T	0.79003	0.4373	N	0.02539	-0.55	0.34849	D	0.741446	B;B;B;B	0.33022	0.016;0.005;0.394;0.0	B;B;B;B	0.27076	0.05;0.037;0.076;0.001	T	0.78861	-0.2037	10	0.13470	T	0.59	.	9.0528	0.36387	0.0:0.1401:0.0:0.8599	.	202;227;235;147	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	D	202;147;227;235	ENSP00000335087:N202D;ENSP00000402971:N147D;ENSP00000309753:N227D;ENSP00000261523:N235D	ENSP00000261523:N235D	N	-	1	0	RORA	58590933	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.728000	0.54991	1.059000	0.40554	0.528000	0.53228	AAC		0.612	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			52	611	0	0	0	1	0	52	611					C	60803641	T	C	60803641	3	2	79	1	0	0	0	0	1	0	0	0	13578	1754	61	4	995	4	RORA	15	60803641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54652	60803641	41727751	15434	25751											
VPS13C	54832	broad.mit.edu	37	chr15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacttactcgcagaaagccCtttcctcctctggccaggct	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000558919.1_5'Flank	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGAAAGCCCTTTCCTCCTC	0.408																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10564-10566)aaG>aaT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							181	178	179					15																	62165457		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62165457C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10566G>T	15.37:g.62165457C>A	ENSP00000261517:p.Lys3522Asn					VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N	p.K3522N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			78	10639	-			3522						Missense_Mutation	SNP	ENST00000261517.5	37	c.10566G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544169	0.65198	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53857	0.6;0.6;0.78	6.02	2.0	0.26442	Autophagy-related, C-terminal (1);	0.050323	0.85682	D	0.000000	T	0.66356	0.2781	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	D;D;D;D	0.76575	0.972;0.972;0.988;0.984	T	0.63301	-0.6668	10	0.39692	T	0.17	.	10.0938	0.42462	0.0:0.5936:0.0:0.4064	.	3479;3522;3479;3522	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	3479;3522;3522;3522	ENSP00000249837:K3479N;ENSP00000261517:K3522N;ENSP00000379233:K3522N	ENSP00000249837:K3479N	K	-	3	2	VPS13C	59952749	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.282000	0.33226	0.423000	0.26033	0.655000	0.94253	AAG		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		211	877	1	0	9.03655e-77	1	1.15342e-76	211	877					A	62165457	C	A	62165457	3	1	79	1	0	0	0	0	1	0	0	0	17245	680	24	3	755	3	VPS13C	15	62165457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1361816	62165457	40365935	15435	25752											
VPS13C	54832	broad.mit.edu	37	chr15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgcagcttttttaagttCtgatcctttcatacttttac	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAAGTTCTGATCCTTTC	0.333																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2686-2688)Gaa>Aaa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							136	134	135					15																	62264895		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62264895C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2686G>A	15.37:g.62264895C>T	ENSP00000261517:p.Glu896Lys					VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	p.E896K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			27	2759	-			896						Missense_Mutation	SNP	ENST00000261517.5	37	c.2686G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599160	0.28534	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.29	5.29	0.74685	.	0.357258	0.26796	N	0.022455	T	0.18676	0.0448	L	0.50333	1.59	0.43394	D	0.99551	B;B;B;B	0.30973	0.302;0.152;0.185;0.004	B;B;B;B	0.23852	0.036;0.036;0.049;0.007	T	0.02766	-1.1113	10	0.28530	T	0.3	.	19.3229	0.94250	0.0:1.0:0.0:0.0	.	853;896;853;896	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	853;896;896;896	ENSP00000249837:E853K;ENSP00000261517:E896K;ENSP00000379233:E896K	ENSP00000249837:E853K	E	-	1	0	VPS13C	60052187	0.889000	0.30405	0.955000	0.39395	0.506000	0.33950	3.224000	0.51238	2.642000	0.89623	0.591000	0.81541	GAA		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		76	375	0	0	0	1	0	76	375					T	62264895	C	T	62264895	3	4	79	1	0	0	0	0	1	0	0	0	17245	922	32	2	8839	2	VPS13C	15	62264895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99438	62264895	40266497	15436	25753											
VPS13C	54832	broad.mit.edu	37	chr15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttaatttttgcccagacCgaatcacctgaaaaataaaa	4	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGCCCAGACCGAATCACCTG	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1360-1362)cGg>cTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							114	119	117					15																	62283994		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62283994C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1361G>T	15.37:g.62283994C>A	ENSP00000261517:p.Arg454Leu					VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	p.R454L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			17	1434	-			454						Missense_Mutation	SNP	ENST00000261517.5	37	c.1361G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.49139	0.79;0.79;0.95	5.78	4.86	0.63082	.	0.078555	0.48767	D	0.000166	T	0.56426	0.1984	M	0.69823	2.125	0.53688	D	0.999978	P;P;P;P	0.47350	0.894;0.798;0.798;0.696	P;P;B;B	0.48425	0.577;0.577;0.392;0.3	T	0.62163	-0.6912	10	0.66056	D	0.02	.	13.9353	0.64021	0.0:0.9261:0.0:0.0738	.	411;454;411;454	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	411;454;454;454	ENSP00000249837:R411L;ENSP00000261517:R454L;ENSP00000379233:R454L	ENSP00000249837:R411L	R	-	2	0	VPS13C	60071286	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.735000	0.62051	1.420000	0.47138	0.591000	0.81541	CGG		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		77	622	1	0	3.1711e-36	1	3.79393e-36	77	622					A	62283994	C	A	62283994	3	1	79	1	0	0	0	0	1	0	0	0	17245	652	23	3	10204	3	VPS13C	15	62283994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19099	62283994	40247398	15437	25754											
TLN2	83660	broad.mit.edu	37	chr15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaagcacatccaaggCggtgggctcctccatggcac	13	14	0	0	rs201378780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2	1099	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACATCCAAGGCGGTGGGCTCC	0.532																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3295-3297)gCg>gTg		talin 2		C	VAL/ALA	0,4406		0,0,2203	86	75	79		3296	4.3	0.5	15		79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLN2	NM_015059.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1099/2543	63019326	1,13005	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63019326C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3296C>T	15.37:g.63019326C>T	ENSP00000453508:p.Ala1099Val					TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V	p.A1099V			Q9Y4G6	TLN2_HUMAN			27	3526	+			1099			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3296C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569842	0.45798	0.0	1.16E-4	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.27	4.33	0.51752	.	0.150976	0.64402	D	0.000013	T	0.18383	0.0441	M	0.66506	2.035	0.36145	D	0.84707	P	0.39601	0.68	B	0.31191	0.125	T	0.23297	-1.0192	10	0.33141	T	0.24	-7.9278	15.8286	0.78733	0.0:0.8591:0.1409:0.0	.	1099	Q9Y4G6	TLN2_HUMAN	V	1099	ENSP00000303476:A1099V	ENSP00000303476:A1099V	A	+	2	0	TLN2	60806618	1.000000	0.71417	0.531000	0.27976	0.411000	0.31082	6.092000	0.71414	1.300000	0.44818	0.650000	0.86243	GCG		0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			43	207	0	0	0	1	0	43	207					T	63019326	C	T	63019326	3	4	79	1	0	0	0	0	1	0	0	0	16000	768	27	1	3394	1	TLN2	15	63019326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735332	63019326	39512066	15438	25755											
TLN2	83660	broad.mit.edu	37	chr15	63029241	63029241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaggccaagcaggccCtgattgcacctggagatgca	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1175	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCCTGATTGCACC	0.547																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3523-3525)Ctg>Ttg		talin 2							65	60	61					15																	63029241		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63029241C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3523C>T	15.37:g.63029241C>T						TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR	p.L1175L			Q9Y4G6	TLN2_HUMAN			28	3753	+			1175			Ala-rich.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.3523C>T	CCDS32261.1																																																																																				0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			20	235	0	0	0	1	0	20	235					T	63029241	C	T	63029241	2	4	79	1	0	0	0	0	0	0	0	1	16000	680	24	2		2	TLN2	15	63029241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9915	63029241	39502151	15439	25756											
TLN2	83660	broad.mit.edu	37	chr15	63084884	63084884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggacctgggccacggCtgtatcttcctggtgcagaa	14	11	1	1	rs199706459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2	1927					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCCACGGCTGTATCTTCC	0.612																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5779-5781)ggC>ggA		talin 2							70	60	63					15																	63084884		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63084884C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5781C>A	15.37:g.63084884C>A						TLN2_ENST00000306829.6_Silent_p.G1927G	p.G1927G			Q9Y4G6	TLN2_HUMAN			45	6011	+			1927					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5781C>A	CCDS32261.1																																																																																				0.612	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			57	207	1	0	9.59835e-30	1	1.1228e-29	57	207					A	63084884	C	A	63084884	2	1	79	1	0	0	0	0	0	0	0	1	16000	784	28	3		3	TLN2	15	63084884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55643	63084884	39446508	15440	25757											
TPM1	7168	broad.mit.edu	37	chr15	63356268	63356268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctggtcatagacgagCtgtacgctcagaaactgaag	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000403994.3	+	9	858	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000357980.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000288398.6_Silent_p.L260L	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	260					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CATAGACGAGCTGTACGCTCA	0.522																																						ENST00000288398.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(778-780)Ctg>Ttg		tropomyosin 1 (alpha)							113	86	95					15																	63356268		2203	4300	6503	SO:0001819	synonymous_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63356268C>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.778C>T	15.37:g.63356268C>T						TPM1_ENST00000403994.3_Silent_p.L260L|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559397.1_Intron	p.L260L	NM_000366.5	NP_000357.3	P09493	TPM1_HUMAN			9	976	+			260					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	c.778C>T	CCDS45273.1																																																																																				0.522	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		22	126	0	0	0	1	0	22	126					T	63356268	C	T	63356268	2	4	79	1	0	0	0	0	0	0	0	1	16458	796	28	2		2	TPM1	15	63356268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271384	63356268	39175124	15441	25758											
RAB8B	51762	broad.mit.edu	37	chr15	63551873	63551873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagacaagcgcaaaatcCagtgcaaatgtagaagaggt	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	154					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398																																						ENST00000321437.4																			0				kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(460-462)tcC>tcT		RAB8B, member RAS oncogene family							99	99	99					15																	63551873		2203	4300	6503	SO:0001819	synonymous_variant	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63551873C>T	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.462C>T	15.37:g.63551873C>T						RAB8B_ENST00000448330.2_Silent_p.S154S	p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN			6	618	+			154					Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	37	c.462C>T	CCDS10183.1																																																																																				0.398	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		33	189	0	0	0	1	0	33	189					T	63551873	C	T	63551873	2	4	79	1	0	0	0	0	0	0	0	1	13007	581	21	2		2	RAB8B	15	63551873	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195605	63551873	38979519	15442	25759											
HERC1	8925	broad.mit.edu	37	chr15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattataatgggatgtgCtgttctgtaacagaaggtac	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGGGATGTGCTGTTCTGTAA	0.423																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13279-13281)aGc>aAc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							124	113	116					15																	63916522		1886	4126	6012	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63916522C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13280G>A	15.37:g.63916522C>T	ENSP00000390158:p.Ser4427Asn						p.S4427N	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			72	13367	-			4427					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13280G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614439	0.66672	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.20941	0.0504	N	0.22421	0.69	0.45762	D	0.998653	B	0.06786	0.001	B	0.04013	0.001	T	0.03095	-1.1073	10	0.30078	T	0.28	.	19.3238	0.94253	0.0:1.0:0.0:0.0	.	4427	Q15751	HERC1_HUMAN	N	4427	ENSP00000390158:S4427N	ENSP00000390158:S4427N	S	-	2	0	HERC1	61703575	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.797000	0.69087	2.614000	0.88457	0.655000	0.94253	AGC		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		62	331	0	0	0	1	0	62	331					T	63916522	C	T	63916522	3	4	79	1	0	0	0	0	1	0	0	0	7087	797	28	2	1333	2	HERC1	15	63916522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364649	63916522	38614870	15443	25760											
HERC1	8925	broad.mit.edu	37	chr15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggacaggtggtgctgTccatgcagcactgtggcagc	17	9	0	0	rs2229746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4359					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTGGTGCTGTCCATGCAGCA	0.532																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13075-13077)Aca>Gca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							81	86	85					15																	63920906		1987	4174	6161	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63920906T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13075A>G	15.37:g.63920906T>C	ENSP00000390158:p.Thr4359Ala						p.T4359A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			70	13162	-			4359					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13075A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648175	0.67358	.	.	ENSG00000103657	ENST00000443617	T	0.80033	-1.33	6.02	6.02	0.97574	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.138522	0.47093	D	0.000242	T	0.74589	0.3736	L	0.40543	1.245	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.74751	-0.3559	10	0.72032	D	0.01	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	4359	Q15751	HERC1_HUMAN	A	4359	ENSP00000390158:T4359A	ENSP00000390158:T4359A	T	-	1	0	HERC1	61707959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.196000	0.72094	2.299000	0.77371	0.528000	0.53228	ACA		0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		53	211	0	0	0	1	0	53	211					C	63920906	T	C	63920906	3	2	79	1	0	0	0	0	1	0	0	0	7087	1667	58	4	1546	4	HERC1	15	63920906	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4384	63920906	38610486	15444	25761											
HERC1	8925	broad.mit.edu	37	chr15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctatcacaacagtttGcaagacagagccatcctaaa	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3783					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						acaacagtttgcaagACAGAG	0.348																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(11347-11349)Caa>Taa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							66	60	62					15																	63935242		1862	4091	5953	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63935242G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11347C>T	15.37:g.63935242G>A	ENSP00000390158:p.Gln3783*						p.Q3783*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			59	11434	-			3783					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.11347C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	52	19.959870	0.99925	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8081	0.57626	0.0:0.0:1.0:0.0	.	.	.	.	X	3783	.	ENSP00000390158:Q3783X	Q	-	1	0	HERC1	61722295	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.926000	0.75835	2.153000	0.67306	0.467000	0.42956	CAA		0.348	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		18	84	0	0	0	1	0	18	84					A	63935242	G	A	63935242	4	1	79	1	0	0	0	0	0	1	0	0	7087	1328	46	2	3318	2	HERC1	15	63935242	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14336	63935242	38596150	15445	25762											
HERC1	8925	broad.mit.edu	37	chr15	63967220	63967220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccagcagcacagaagcCgtcaggcctcggaatcgcgc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2389					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACAGAAGCCGTCAGGCCTC	0.488																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(7165-7167)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							119	113	115					15																	63967220		2036	4195	6231	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63967220C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7167G>A	15.37:g.63967220C>T							p.T2389T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			38	7254	-			2389					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.7167G>A	CCDS45277.1																																																																																				0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		107	464	0	0	0	1	0	107	464					T	63967220	C	T	63967220	2	4	79	1	0	0	0	0	0	0	0	1	7087	639	23	1		1	HERC1	15	63967220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31978	63967220	38564172	15446	25763											
HERC1	8925	broad.mit.edu	37	chr15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattacccaattgaggagtgTccatttctacaccgtcactg	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1185					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGGAGTGTCCATTTCTAC	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3553-3555)gAc>gCc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							68	66	66					15																	64017505		1998	4176	6174	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017505T>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3554A>C	15.37:g.64017505T>G	ENSP00000390158:p.Asp1185Ala						p.D1185A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			18	3641	-			1185					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3554A>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564733	0.65651	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	5.44	5.44	0.79542	.	0.287715	0.31450	N	0.007624	T	0.19886	0.0478	N	0.19112	0.55	0.54753	D	0.999989	B	0.24186	0.099	B	0.22601	0.04	T	0.03673	-1.1014	10	0.66056	D	0.02	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1185	Q15751	HERC1_HUMAN	A	1185	ENSP00000390158:D1185A	ENSP00000390158:D1185A	D	-	2	0	HERC1	61804558	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.187000	0.72039	2.199000	0.70637	0.528000	0.53228	GAC		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	144	0	0	0	1	0	27	144					G	64017505	T	G	64017505	3	3	79	1	0	0	0	0	1	0	0	0	7087	1667	58	4	11275	4	HERC1	15	64017505	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50285	64017505	38513887	15447	25764											
HERC1	8925	broad.mit.edu	37	chr15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactcaataaaggccgagCcactgacacagggagtaaca	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1078					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGGCCGAGCCACTGACACA	0.468																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3232-3234)Gct>Act		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							69	70	70					15																	64019960		1932	4153	6085	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64019960C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3232G>A	15.37:g.64019960C>T	ENSP00000390158:p.Ala1078Thr						p.A1078T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			17	3319	-			1078					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3232G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857267	0.71834	.	.	ENSG00000103657	ENST00000443617	T	0.41758	0.99	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.27731	0.0682	N	0.12182	0.205	0.80722	D	1	P	0.43750	0.816	B	0.39068	0.289	T	0.05517	-1.0880	10	0.19147	T	0.46	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1078	Q15751	HERC1_HUMAN	T	1078	ENSP00000390158:A1078T	ENSP00000390158:A1078T	A	-	1	0	HERC1	61807013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	GCT		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	200	0	0	0	1	0	27	200					T	64019960	C	T	64019960	3	4	79	1	0	0	0	0	1	0	0	0	7087	739	26	2	11601	2	HERC1	15	64019960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2455	64019960	38511432	15448	25765											
HERC1	8925	broad.mit.edu	37	chr15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagccaagtagggaggctaCgtgggtatgatcttgcaaac	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	899					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGAGGCTACGTGGGTATGA	0.423																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2695-2697)Gta>Ata		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							155	151	152					15																	64025296		1967	4156	6123	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64025296C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2695G>A	15.37:g.64025296C>T	ENSP00000390158:p.Val899Ile						p.V899I	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			14	2782	-			899					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2695G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458896	0.63401	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000006	T	0.36880	0.0983	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.07908	-1.0748	10	0.29301	T	0.29	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	899	Q15751	HERC1_HUMAN	I	899	ENSP00000390158:V899I	ENSP00000390158:V899I	V	-	1	0	HERC1	61812349	1.000000	0.71417	0.916000	0.36221	0.951000	0.60555	7.709000	0.84645	2.658000	0.90341	0.655000	0.94253	GTA		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		93	425	0	0	0	1	0	93	425					T	64025296	C	T	64025296	3	4	79	1	0	0	0	0	1	0	0	0	7087	536	19	1	12150	1	HERC1	15	64025296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5336	64025296	38506096	15449	25766											
HERC1	8925	broad.mit.edu	37	chr15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcccccaaacataaacctCacaggtttcggagacaatgg	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	373					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATAAACCTCACAGGTTTCG	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1117-1119)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104	98	99					15																	64050478		1872	4114	5986	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64050478C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1117G>A	15.37:g.64050478C>T	ENSP00000390158:p.Glu373Lys						p.E373K	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			4	1204	-			373					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1117G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712006	0.96830	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.35	5.35	0.76521	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	U	0.000001	D	0.88676	0.6501	L	0.37630	1.12	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62885	0.908;0.908	D	0.89424	0.3712	10	0.66056	D	0.02	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	373;373	C9JUT5;Q15751	.;HERC1_HUMAN	K	373	ENSP00000390158:E373K	ENSP00000390158:E373K	E	-	1	0	HERC1	61837531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.647000	0.89833	0.655000	0.94253	GAG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		43	171	0	0	0	1	0	43	171					T	64050478	C	T	64050478	3	4	79	1	0	0	0	0	1	0	0	0	7087	835	29	2	13768	2	HERC1	15	64050478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25182	64050478	38480914	15450	25767											
FAM96A	84191	broad.mit.edu	37	chr15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttaccaataagagtcGccaaagagcaatgaggtact	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000300030.3	-	2	527	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000557835.1_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V|FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	93					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343																																						ENST00000557835.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(277-279)gCg>gTg		family with sequence similarity 96, member A							74	68	70					15																	64380897		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64380897G>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.278C>T	15.37:g.64380897G>A	ENSP00000300030:p.Ala93Val					FAM96A_ENST00000300030.3_Missense_Mutation_p.A93V|FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V	p.A93V			Q9H5X1	FA96A_HUMAN			2	304	-			93					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.278C>T	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099840	0.94197	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.057092	0.64402	N	0.000001	T	0.79695	0.4490	M	0.76727	2.345	0.80722	D	1	D;P	0.89917	1.0;0.892	D;B	0.91635	0.999;0.201	T	0.80522	-0.1345	9	0.62326	D	0.03	-22.9898	17.573	0.87940	0.0:0.0:1.0:0.0	.	93;93	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	V	93	.	ENSP00000300030:A93V	A	-	2	0	FAM96A	62167950	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.339000	0.96797	2.735000	0.93741	0.650000	0.86243	GCG		0.343	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		30	110	0	0	0	1	0	30	110					A	64380897	G	A	64380897	3	1	79	1	0	0	0	0	1	0	0	0	5679	1087	38	1	220	1	FAM96A	15	64380897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330419	64380897	38150495	15451	25768											
SNX1	6642	broad.mit.edu	37	chr15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacaagaccaagagccacaGgatctctttgcaggcaagtt	10	10	1	2	rs11551154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000559844.1	+	2	272	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H			Q13596	SNX1_HUMAN	sorting nexin 1	86					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388																																						ENST00000353874.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(256-258)caG>caT		sorting nexin 1							74	68	70					15																	64404870		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64404870G>T	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.258G>T	15.37:g.64404870G>T	ENSP00000453785:p.Gln86His					SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_Missense_Mutation_p.Q86H|SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H	p.Q86H			Q13596	SNX1_HUMAN			2	294	+			86					A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.258G>T	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138485	0.56936	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.46451	0.87;0.87;0.87	5.66	0.545	0.17190	.	0.507362	0.16503	N	0.211577	T	0.45657	0.1353	L	0.29908	0.895	0.45403	D	0.998383	D;D;P;D	0.60575	0.972;0.988;0.934;0.972	P;D;P;P	0.72338	0.873;0.977;0.62;0.796	T	0.22138	-1.0225	10	0.34782	T	0.22	-4.0139	8.7912	0.34852	0.3806:0.0:0.6194:0.0	.	86;86;86;86	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	H	86	ENSP00000369638:Q86H;ENSP00000326668:Q86H;ENSP00000261889:Q86H	ENSP00000261889:Q86H	Q	+	3	2	SNX1	62191923	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.719000	0.25881	0.075000	0.16796	-0.258000	0.10820	CAG		0.388	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		31	134	1	0	7.63505e-26	1	8.77765e-26	31	134					T	64404870	G	T	64404870	3	4	79	1	0	0	0	0	1	0	0	0	14930	991	35	3	264	3	SNX1	15	64404870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23973	64404870	38126522	15452	25769											
ZNF609	23060	broad.mit.edu	37	chr15	64915077	64915077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaatacaccttttggtgCcagtggtcaacaatgacatc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	ENST00000326648.3	+	2	927	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	267						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCCAGTGGTCAA	0.512																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(799-801)Cca>Tca		zinc finger protein 609							200	177	185					15																	64915077		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64915077C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.799C>T	15.37:g.64915077C>T	ENSP00000316527:p.Pro267Ser						p.P267S	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			2	927	+			267					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.799C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258531	0.23051	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.61	5.61	0.85477	.	0.116785	0.64402	D	0.000009	T	0.41604	0.1166	L	0.31664	0.95	0.80722	D	1	P	0.36683	0.565	B	0.41917	0.37	T	0.14476	-1.0471	10	0.07030	T	0.85	-22.871	19.6299	0.95698	0.0:1.0:0.0:0.0	.	267	O15014	ZN609_HUMAN	S	267	ENSP00000316527:P267S	ENSP00000316527:P267S	P	+	1	0	ZNF609	62702130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.639000	0.89480	0.655000	0.94253	CCA		0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		25	668	0	0	0	1	0	25	668					T	64915077	C	T	64915077	3	4	79	1	0	0	0	0	1	0	0	0	18088	739	26	2	805	2	ZNF609	15	64915077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510207	64915077	37616315	15453	25770											
ZNF609	23060	broad.mit.edu	37	chr15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacactccttgactgcacaCgacatgattgggcaccccca	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	347						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTGCACACGACATGATTG	0.403																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1039-1041)Cga>Tga		zinc finger protein 609							259	213	229					15																	64962610		2203	4299	6502	SO:0001587	stop_gained	23060					nucleus	zinc ion binding	g.chr15:64962610C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1039C>T	15.37:g.64962610C>T	ENSP00000316527:p.Arg347*					ZNF609_ENST00000559364.1_3'UTR	p.R347*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			3	1167	+			347					Q0D2I2	Nonsense_Mutation	SNP	ENST00000326648.3	37	c.1039C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093044	0.97276	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.34	3.32	0.38043	.	0.059257	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8235	13.6805	0.62481	0.2903:0.7097:0.0:0.0	.	.	.	.	X	347	.	ENSP00000316527:R347X	R	+	1	2	ZNF609	62749663	0.984000	0.35163	0.950000	0.38849	0.991000	0.79684	1.511000	0.35801	0.516000	0.28340	0.655000	0.94253	CGA		0.403	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		66	321	0	0	0	1	0	66	321					T	64962610	C	T	64962610	4	4	79	1	0	0	0	0	0	1	0	0	18088	528	19	1	1049	1	ZNF609	15	64962610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47533	64962610	37568782	15454	25771											
PIF1	80119	broad.mit.edu	37	chr15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatccagggtactggCcagctcagggttgctgtcca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1378-1380)Gcc>Acc		PIF1 5'-to-3' DNA helicase							45	41	43					15																	65111378		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65111378C>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1378G>A	15.37:g.65111378C>T	ENSP00000268043:p.Ala460Thr					PIF1_ENST00000559239.1_Missense_Mutation_p.A460T|PIF1_ENST00000333425.6_Missense_Mutation_p.A460T	p.A460T			Q9H611	PIF1_HUMAN			9	1472	-			460			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1378G>A	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716799	0.03206	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.76968	-1.06;-1.06	5.11	3.16	0.36331	.	0.295485	0.36740	N	0.002427	T	0.50429	0.1615	N	0.03903	-0.33	0.26512	N	0.974573	B	0.17852	0.024	B	0.20384	0.029	T	0.35919	-0.9769	10	0.13470	T	0.59	-12.1785	7.4709	0.27349	0.1659:0.7433:0.0:0.0908	.	460	Q9H611	PIF1_HUMAN	T	460	ENSP00000268043:A460T;ENSP00000328174:A460T	ENSP00000268043:A460T	A	-	1	0	PIF1	62898431	1.000000	0.71417	0.342000	0.25602	0.133000	0.20885	4.742000	0.62103	0.606000	0.29965	0.655000	0.94253	GCC		0.542	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		8	151	0	0	0	1	0	8	151					T	65111378	C	T	65111378	3	4	79	1	0	0	0	0	1	0	0	0	11925	739	26	2	567	2	PIF1	15	65111378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148768	65111378	37420014	15455	25772											
PIF1	80119	broad.mit.edu	37	chr15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgagggccacatcatcCtggtgggtgcagagcctcgt	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1285-1287)caG>caT		PIF1 5'-to-3' DNA helicase							68	60	62					15																	65112092		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65112092C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1287G>T	15.37:g.65112092C>A	ENSP00000268043:p.Gln429His					PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H|PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H	p.Q429H			Q9H611	PIF1_HUMAN			8	1381	-			429			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1287G>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884722	0.51908	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77489	-1.1;-1.1	5.62	4.7	0.59300	.	0.047074	0.85682	D	0.000000	T	0.79305	0.4423	L	0.36672	1.1	0.40223	D	0.977751	D	0.69078	0.997	D	0.64410	0.925	T	0.79245	-0.1883	10	0.48119	T	0.1	-29.2408	8.5208	0.33275	0.0:0.8264:0.0:0.1736	.	429	Q9H611	PIF1_HUMAN	H	429	ENSP00000268043:Q429H;ENSP00000328174:Q429H	ENSP00000268043:Q429H	Q	-	3	2	PIF1	62899145	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	0.885000	0.28227	1.379000	0.46325	0.655000	0.94253	CAG		0.617	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		18	373	1	0	6.94344e-10	1	7.33246e-10	18	373					A	65112092	C	A	65112092	3	1	79	1	0	0	0	0	1	0	0	0	11925	680	24	3	662	3	PIF1	15	65112092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	65112092	37419300	15456	25773											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcttctgggccacctgctCcaggcacagtgcaggtctca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602																																						ENST00000323544.4																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1006-1008)Cca>Tca		pleckstrin homology domain containing, family O member 2							54	58	57					15																	65157620		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157620C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1006C>T	15.37:g.65157620C>T	ENSP00000326706:p.Pro336Ser					AC069368.3_ENST00000437723.1_Intron	p.P336S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN			6	1134	+			336			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1006C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720908	0.15372	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.42	3.55	0.40652	.	0.419926	0.26796	N	0.022445	T	0.19248	0.0462	N	0.20986	0.625	0.09310	N	1	B;P	0.43094	0.06;0.799	B;B	0.36845	0.032;0.234	T	0.09907	-1.0653	10	0.17369	T	0.5	.	8.1887	0.31354	0.0:0.8176:0.0:0.1824	.	286;336	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	336	ENSP00000326706:P336S	ENSP00000326706:P336S	P	+	1	0	PLEKHO2	62944673	0.004000	0.15560	0.010000	0.14722	0.008000	0.06430	1.931000	0.40134	0.662000	0.31006	0.655000	0.94253	CCA		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		56	276	0	0	0	1	0	56	276					T	65157620	C	T	65157620	3	4	79	1	0	0	0	0	1	0	0	0	12127	855	30	2	1028	2	PLEKHO2	15	65157620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45528	65157620	37373772	15457	25774											
ANKDD1A	348094	broad.mit.edu	37	chr15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgcagcaaccatgtcaGcctggtggacatgatcataa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	371					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1111-1113)aGc>aTc		ankyrin repeat and death domain containing 1A							98	83	88					15																	65236895		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65236895G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1112G>T	15.37:g.65236895G>T	ENSP00000369579:p.Ser371Ile					ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron	p.S371I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			12	1141	+			371					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1112G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812775	0.32053	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.64991	-0.13;-0.13	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.364418	0.26244	N	0.025498	T	0.48892	0.1525	L	0.41236	1.265	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.50276	-0.8847	10	0.56958	D	0.05	-23.632	4.8555	0.13557	0.1712:0.0:0.6581:0.1707	.	371	Q495B1	AKD1A_HUMAN	I	371	ENSP00000369579:S371I;ENSP00000379070:S371I	ENSP00000369579:S371I	S	+	2	0	ANKDD1A	63023948	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.578000	0.36525	1.456000	0.47831	0.591000	0.81541	AGC		0.502	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		18	162	1	0	5.01169e-05	1	5.1097e-05	18	162					T	65236895	G	T	65236895	3	4	79	1	0	0	0	0	1	0	0	0	624	971	34	3	1158	3	ANKDD1A	15	65236895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79275	65236895	37294497	15458	25775											
MTFMT	123263	broad.mit.edu	37	chr15	65316129	65316129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgaacattcaatatGccactgagttagaaaatgta	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000220058.4	-	3	436	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	141						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(421-423)ggC>ggT		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						63	61	61					15																	65316129		1917	4130	6047	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65316129G>A	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.423C>T	15.37:g.65316129G>A						MTFMT_ENST00000561025.1_Intron	p.G141G	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			3	436	-			141					B7Z734	Silent	SNP	ENST00000220058.4	37	c.423C>T	CCDS45280.1																																																																																				0.433	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		39	108	0	0	0	1	0	39	108					A	65316129	G	A	65316129	2	1	79	1	0	0	0	0	0	0	0	1	9965	1306	46	2		2	MTFMT	15	65316129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79234	65316129	37215263	15459	25776											
CLPX	10845	broad.mit.edu	37	chr15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttcctcctgctgatgattCtgtctaaaccattgaaagca	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	428					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(1282-1284)aGa>aAa		caseinolytic mitochondrial matrix peptidase chaperone subunit							132	128	129					15																	65448058		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65448058C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1283G>A	15.37:g.65448058C>T	ENSP00000300107:p.Arg428Lys						p.R428K	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			10	1471	-			428					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.1283G>A	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551455	0.45487	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.38240	1.15	5.98	5.98	0.97165	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.02111	-0.68	0.80722	D	1	B	0.24132	0.098	B	0.34180	0.177	T	0.17592	-1.0364	10	0.05351	T	0.99	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	428	O76031	CLPX_HUMAN	K	428	ENSP00000300107:R428K	ENSP00000300107:R428K	R	-	2	0	CLPX	63235111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.838000	0.97847	0.591000	0.81541	AGA		0.398	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		110	456	0	0	0	1	0	110	456					T	65448058	C	T	65448058	3	4	79	1	0	0	0	0	1	0	0	0	3565	913	32	2	638	2	CLPX	15	65448058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131929	65448058	37083334	15460	25777											
PARP16	54956	broad.mit.edu	37	chr15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagctaaggatggggcCgaggaggctgtgctgccacc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000444347.2	-	2	687	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	PARP16_ENST00000261888.6_Missense_Mutation_p.G206S			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	206	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(616-618)Ggc>Agc		poly (ADP-ribose) polymerase family, member 16							82	64	70					15																	65555562		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65555562C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.271G>A	15.37:g.65555562C>T	ENSP00000396118:p.Gly91Ser					PARP16_ENST00000444347.2_Missense_Mutation_p.G91S	p.G206S	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			4	1061	-			206			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.616G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.460407	0.96240	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.61510	0.74;0.1	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.989;0.993	T	0.68032	-0.5516	10	0.33141	T	0.24	-29.5579	18.6133	0.91294	0.0:1.0:0.0:0.0	.	206;91;206	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	S	206;91	ENSP00000261888:G206S;ENSP00000396118:G91S	ENSP00000261888:G206S	G	-	1	0	PARP16	63342615	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GGC		0.587	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		31	157	0	0	0	1	0	31	157					T	65555562	C	T	65555562	3	4	79	1	0	0	0	0	1	0	0	0	11502	652	23	1	367	1	PARP16	15	65555562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107504	65555562	36975830	15461	25778											
PARP16	54956	broad.mit.edu	37	chr15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggccgaggcgaagaGgctgcaccggaggtcggcgg	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000444347.2	-	1	492	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|SNORA24_ENST00000384176.1_RNA|PARP16_ENST00000558873.1_Intron			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	26	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(76-78)Ctc>Ttc		poly (ADP-ribose) polymerase family, member 16							8	10	9					15																	65578689		2173	4272	6445	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65578689G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.76C>T	15.37:g.65578689G>A	ENSP00000396118:p.Leu26Phe					PARP16_ENST00000444347.2_Missense_Mutation_p.L26F|PARP16_ENST00000558873.1_Intron	p.L26F	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			1	521	-			26					Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.76C>T		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462976	0.26248	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.60171	0.43;0.21	3.29	-0.0327	0.13904	.	0.234953	0.36482	N	0.002573	T	0.47322	0.1439	L	0.59436	1.845	0.28420	N	0.917767	B;B;B	0.28178	0.202;0.0;0.039	B;B;B	0.29663	0.105;0.003;0.049	T	0.41787	-0.9489	10	0.45353	T	0.12	-10.0549	6.6763	0.23095	0.4103:0.0:0.5897:0.0	.	26;26;26	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	F	26	ENSP00000261888:L26F;ENSP00000396118:L26F	ENSP00000261888:L26F	L	-	1	0	PARP16	63365742	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.199000	0.42715	0.131000	0.18576	-0.481000	0.04817	CTC		0.726	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		16	82	0	0	0	1	0	16	82					A	65578689	G	A	65578689	3	1	79	1	0	0	0	0	1	0	0	0	11502	1000	35	2	919	2	PARP16	15	65578689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23127	65578689	36952703	15462	25779											
IGDCC3	9543	broad.mit.edu	37	chr15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcacattgcggggaGgcccggggagcccctcagcc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1276-1278)cCt>cAt		immunoglobulin superfamily, DCC subclass, member 3							36	36	36					15																	65623869		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65623869G>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1277C>A	15.37:g.65623869G>T	ENSP00000332773:p.Pro426His					IGDCC3_ENST00000559231.1_5'UTR	p.P426H	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			8	1528	-			426			Fibronectin type-III 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1277C>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861591	0.51482	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59906	0.23	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215894	0.41605	D	0.000857	T	0.78880	0.4353	M	0.85777	2.775	0.46849	D	0.999225	D	0.71674	0.998	D	0.70487	0.969	T	0.83357	-0.0000	10	0.87932	D	0	-10.6279	18.1374	0.89624	0.0:0.0:1.0:0.0	.	426	Q8IVU1	IGDC3_HUMAN	H	426;289	ENSP00000332773:P426H	ENSP00000332773:P426H	P	-	2	0	IGDCC3	63410922	1.000000	0.71417	0.948000	0.38648	0.318000	0.28184	4.402000	0.59722	2.241000	0.73720	0.655000	0.94253	CCT		0.622	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		43	138	1	0	6.1207e-33	1	7.24336e-33	43	138					T	65623869	G	T	65623869	3	4	79	1	0	0	0	0	1	0	0	0	7598	1000	35	3	1195	3	IGDCC3	15	65623869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45180	65623869	36907523	15463	25780											
IGDCC4	57722	broad.mit.edu	37	chr15	65678349	65678349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgagctctggagtacagCgcgggattcccgggggtggc	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	ENST00000352385.2	-	18	3209	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1000						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGTACAGCGCGGGATTCC	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2998-3000)gcG>gcA		immunoglobulin superfamily, DCC subclass, member 4							7	9	8					15																	65678349		2163	4248	6411	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65678349C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3000G>A	15.37:g.65678349C>T			OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.A1000A	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3209	-			1000					Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3000G>A	CCDS10206.1																																																																																				0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		12	60	0	0	0	1	0	12	60					T	65678349	C	T	65678349	2	4	79	1	0	0	0	0	0	0	0	1	7599	755	27	1		1	IGDCC4	15	65678349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54480	65678349	36853043	15464	25781											
IGDCC4	57722	broad.mit.edu	37	chr15	65682504	65682504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccccacctggtgtaataGgtgaccagggaggcattcct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	799	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2395-2397)acC>acA		immunoglobulin superfamily, DCC subclass, member 4							74	71	72					15																	65682504		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65682504G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2397C>A	15.37:g.65682504G>T							p.T799T	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			13	2606	-			799			Fibronectin type-III 4.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2397C>A	CCDS10206.1																																																																																				0.532	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		47	277	1	0	4.01344e-20	1	4.48984e-20	47	277					T	65682504	G	T	65682504	2	4	79	1	0	0	0	0	0	0	0	1	7599	987	35	3		3	IGDCC4	15	65682504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4155	65682504	36848888	15465	25782											
IGDCC4	57722	broad.mit.edu	37	chr15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgacgcggcagcgcacGccattcccgcgctgttctca	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	414	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1240-1242)gCg>gTg		immunoglobulin superfamily, DCC subclass, member 4							16	15	15					15																	65688258		2185	4277	6462	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65688258G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1241C>T	15.37:g.65688258G>A	ENSP00000319623:p.Ala414Val						p.A414V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			7	1450	-			414			Ig-like C2-type 4.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1241C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.67171	-0.25	4.45	4.45	0.53987	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	N	0.11927	0.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65932	-0.6048	10	0.21014	T	0.42	-25.2419	17.4669	0.87635	0.0:0.0:1.0:0.0	.	414	Q8TDY8	IGDC4_HUMAN	V	414;143	ENSP00000319623:A414V	ENSP00000319623:A414V	A	-	2	0	IGDCC4	63475311	1.000000	0.71417	0.021000	0.16686	0.302000	0.27658	9.761000	0.98940	2.187000	0.69744	0.462000	0.41574	GCG		0.701	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		16	55	0	0	0	1	0	16	55					A	65688258	G	A	65688258	3	1	79	1	0	0	0	0	1	0	0	0	7599	1087	38	1	2567	1	IGDCC4	15	65688258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5754	65688258	36843134	15466	25783											
IGDCC4	57722	broad.mit.edu	37	chr15	65688350	65688350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgccaccgccgccctgGaccttgacgcgcccgttggg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	383	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1147-1149)gtC>gtT		immunoglobulin superfamily, DCC subclass, member 4							11	10	10					15																	65688350		2156	4238	6394	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65688350G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1149C>T	15.37:g.65688350G>A							p.V383V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			7	1358	-			383			Ig-like C2-type 4.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.1149C>T	CCDS10206.1																																																																																				0.731	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		10	43	0	0	0	1	0	10	43					A	65688350	G	A	65688350	2	1	79	1	0	0	0	0	0	0	0	1	7599	1161	41	2		2	IGDCC4	15	65688350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	65688350	36843042	15467	25784											
IGDCC4	57722	broad.mit.edu	37	chr15	65694733	65694733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggctgaagtgctggCgagctgagttggtggccacg	16	11	0	2	rs371134708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	ENST00000352385.2	-	4	865	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	219	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGTGCTGGCGAGCTGAGTT	0.622																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(655-657)cGc>cAc		immunoglobulin superfamily, DCC subclass, member 4		C	HIS/ARG	1,4391		0,1,2195	37	33	35		656	-0.6	0	15		35	0,8590		0,0,4295	no	missense	IGDCC4	NM_020962.1	29	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	benign	219/1251	65694733	1,12981	2196	4295	6491	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65694733C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.656G>A	15.37:g.65694733C>T	ENSP00000319623:p.Arg219His						p.R219H	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			4	865	-			219			Ig-like C2-type 2.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.656G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	5.100	0.204122	0.09704	2.28E-4	0.0	ENSG00000103742	ENST00000352385	T	0.67171	-0.25	5.4	-0.629	0.11533	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674300	0.15537	N	0.257185	T	0.43188	0.1236	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25502	-1.0130	10	0.33141	T	0.24	-1.3428	9.526	0.39165	0.0:0.4041:0.0:0.5959	.	219	Q8TDY8	IGDC4_HUMAN	H	219	ENSP00000319623:R219H	ENSP00000319623:R219H	R	-	2	0	IGDCC4	63481786	0.000000	0.05858	0.015000	0.15790	0.058000	0.15608	0.469000	0.22067	-0.005000	0.14395	-0.140000	0.14226	CGC		0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		6	21	0	0	0	1	0	6	21					T	65694733	C	T	65694733	3	4	79	1	0	0	0	0	1	0	0	0	7599	768	27	1	3164	1	IGDCC4	15	65694733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6383	65694733	36836659	15468	25785											
C15orf44	81556	broad.mit.edu	37	chr15	65885863	65885863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatctgattggctgaatTttcatcttcattgtcatcag	7	8	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65885863T>G	ENST00000395644.4	-	8	1224	c.889A>C	c.(889-891)Aat>Cat	p.N297H	VWA9_ENST00000567744.1_Missense_Mutation_p.N333H|VWA9_ENST00000431261.2_Missense_Mutation_p.N218H|VWA9_ENST00000420799.2_Missense_Mutation_p.N240H|VWA9_ENST00000313182.2_Missense_Mutation_p.N297H|VWA9_ENST00000569491.1_Missense_Mutation_p.N247H|VWA9_ENST00000442903.3_Missense_Mutation_p.N261H			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	297																	TTGGCTGAATTTTCATCTTCA	0.413																																						ENST00000395644.4																			0											c.(889-891)Aat>Cat		von Willebrand factor A domain containing 9							155	122	134					15																	65885863		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65885863T>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.889A>C	15.37:g.65885863T>G	ENSP00000379006:p.Asn297His					VWA9_ENST00000442903.3_Missense_Mutation_p.N261H|VWA9_ENST00000569491.1_Missense_Mutation_p.N247H|VWA9_ENST00000313182.2_Missense_Mutation_p.N297H|VWA9_ENST00000420799.2_Missense_Mutation_p.N240H|VWA9_ENST00000567744.1_Missense_Mutation_p.N333H|VWA9_ENST00000431261.2_Missense_Mutation_p.N218H	p.N297H							8	1224	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.889A>C		.	.	.	.	.	.	.	.	.	.	T	17.85	3.490460	0.64074	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.140205	0.64402	D	0.000005	T	0.39091	0.1065	N	0.08118	0	0.46798	D	0.999208	P;P;P;P	0.49447	0.924;0.792;0.913;0.85	P;B;B;B	0.44946	0.465;0.35;0.339;0.258	T	0.41413	-0.9510	9	0.41790	T	0.15	-28.3665	16.1778	0.81874	0.0:0.0:0.0:1.0	.	247;261;333;297	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	H	297;297;218;240;261	.	ENSP00000326379:N297H	N	-	1	0	C15orf44	63672916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.342000	0.59341	2.279000	0.76181	0.533000	0.62120	AAT		0.413	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		8	439	0	0	0	1	0	8	439					G	65885863	T	G	65885863	3	3	79	1	0	0	0	0	1	0	0	0	1803	1841	64	4	687	4	C15orf44	15	65885863	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	191130	65885863	36645529	15469	25786											
C15orf44	81556	broad.mit.edu	37	chr15	65892120	65892120	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtattacctcctccaAattcgccatgcacatgatat	5	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65892120A>G	ENST00000395644.4	-	4	813	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	VWA9_ENST00000567744.1_Silent_p.L196L|VWA9_ENST00000431261.2_Silent_p.L81L|VWA9_ENST00000420799.2_Silent_p.L103L|VWA9_ENST00000313182.2_Silent_p.L160L|VWA9_ENST00000569491.1_Silent_p.L111L|VWA9_ENST00000442903.3_Silent_p.L124L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	160	VWFA.																ACCTCCTCCAAATTCGCCATG	0.358																																						ENST00000395644.4																			0											c.(478-480)Ttg>Ctg		von Willebrand factor A domain containing 9							137	115	122					15																	65892120		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65892120A>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.478T>C	15.37:g.65892120A>G						VWA9_ENST00000442903.3_Silent_p.L124L|VWA9_ENST00000569491.1_Silent_p.L111L|VWA9_ENST00000313182.2_Silent_p.L160L|VWA9_ENST00000420799.2_Silent_p.L103L|VWA9_ENST00000567744.1_Silent_p.L196L|VWA9_ENST00000431261.2_Silent_p.L81L	p.L160L							4	813	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.478T>C																																																																																					0.358	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		61	289	0	0	0	1	0	61	289					G	65892120	A	G	65892120	2	3	79	1	0	0	0	0	0	0	0	1	1803	11	1	4		4	C15orf44	15	65892120	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6257	65892120	36639272	15470	25787											
DENND4A	10260	broad.mit.edu	37	chr15	65962264	65962264	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcttgactttagaaagtatCtgtaatgtgaatcgaaggaa	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65962264C>A	ENST00000431932.2	-	26	4717		c.e26-1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAAAGTATCTGTAATGTGA	0.378																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.e27-1		DENN/MADD domain containing 4A							139	131	134					15																	65962264		1854	4093	5947	SO:0001630	splice_region_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65962264C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4509-1G>T	15.37:g.65962264C>A						DENND4A_ENST00000431932.2_Splice_Site		NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			27	4853	-								E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37		CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747899	0.89663	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63749318	0.994000	0.37717	1.000000	0.80357	0.901000	0.52897	3.405000	0.52630	2.937000	0.99478	0.650000	0.86243	.		0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	47	182	1	0	1.51926e-22	1	1.72e-22	47	182					A	65962264	C	A	65962264	5	1	79	1	0	0	0	0	0	0	1	0	4449	927	32	3	1111	3	DENND4A	15	65962264	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70144	65962264	36569128	15471	25788											
DENND4A	10260	broad.mit.edu	37	chr15	65982789	65982789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacatggtgaatcttgaataCcatttgcttgctttctctgc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	ENST00000431932.2	-	22	4219	c.4011G>T	c.(4009-4011)tgG>tgT	p.W1337C	DENND4A_ENST00000443035.3_Missense_Mutation_p.W1380C|DENND4A_ENST00000567323.1_5'UTR	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATCTTGAATACCATTTGCTTG	0.373																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4138-4140)tgG>tgT		DENN/MADD domain containing 4A							125	115	118					15																	65982789		2008	4166	6174	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65982789C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4011G>T	15.37:g.65982789C>A	ENSP00000396830:p.Trp1337Cys					DENND4A_ENST00000431932.2_Missense_Mutation_p.W1337C|DENND4A_ENST00000567323.1_5'UTR	p.W1380C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			23	4355	-			1337					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4140G>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147367	0.57151	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.07444	3.24;3.19	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	T	0.26122	0.0637	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.921;0.956	T	0.00184	-1.1944	10	0.62326	D	0.03	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	1380;1337	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1380;1337	ENSP00000391167:W1380C;ENSP00000396830:W1337C	ENSP00000396830:W1337C	W	-	3	0	DENND4A	63769843	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.684000	0.46951	2.576000	0.86940	0.650000	0.86243	TGG		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		25	155	1	0	1.66031e-10	1	1.76115e-10	25	155					A	65982789	C	A	65982789	3	1	79	1	0	0	0	0	1	0	0	0	4449	508	18	3	1624	3	DENND4A	15	65982789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20525	65982789	36548603	15472	25789											
DENND4A	10260	broad.mit.edu	37	chr15	66007885	66007885	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaaaagaacattcttcaatGaagcgaataaacatttgtgt	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	ENST00000431932.2	-	14	2092	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_ENST00000443035.3_Missense_Mutation_p.F628L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	628	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCTTCAATGAAGCGAATAA	0.338																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1882-1884)ttC>ttA		DENN/MADD domain containing 4A							80	73	75					15																	66007885		1829	4084	5913	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66007885G>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1884C>A	15.37:g.66007885G>T	ENSP00000396830:p.Phe628Leu					DENND4A_ENST00000431932.2_Missense_Mutation_p.F628L	p.F628L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			14	2099	-			628			dDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1884C>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583130	0.86748	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.72167	-0.63;-0.63	5.41	3.51	0.40186	dDENN (3);	0.092891	0.85682	D	0.000000	D	0.83704	0.5312	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.99;0.998;0.995	D	0.85024	0.0913	10	0.87932	D	0	.	9.3824	0.38322	0.2213:0.0:0.7787:0.0	.	628;628;628	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	628	ENSP00000391167:F628L;ENSP00000396830:F628L	ENSP00000396830:F628L	F	-	3	2	DENND4A	63794939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.552000	0.53705	1.264000	0.44198	0.591000	0.81541	TTC		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		16	73	1	0	6.31663e-08	1	6.57865e-08	16	73					T	66007885	G	T	66007885	3	4	79	1	0	0	0	0	1	0	0	0	4449	1281	45	3	3916	3	DENND4A	15	66007885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25096	66007885	36523507	15473	25790											
DENND4A	10260	broad.mit.edu	37	chr15	66031062	66031062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttttcagctgaggctccAgttaaaacaaaagtagaaaa	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000431932.2	-	6	991	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000443035.3_Silent_p.T261T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	261	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGAGGCTCCAGTTAAAACAA	0.343																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(781-783)acT>acC		DENN/MADD domain containing 4A							102	99	100					15																	66031062		1815	4068	5883	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66031062A>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.783T>C	15.37:g.66031062A>G						DENND4A_ENST00000431932.2_Silent_p.T261T	p.T261T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			6	998	-			261			UDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.783T>C	CCDS45285.1																																																																																				0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		74	326	0	0	0	1	0	74	326					G	66031062	A	G	66031062	2	3	79	1	0	0	0	0	0	0	0	1	4449	175	7	4		4	DENND4A	15	66031062	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23177	66031062	36500330	15474	25791											
DENND4A	10260	broad.mit.edu	37	chr15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactcccactaatatttgCggggcgcccatagggagtac	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(385-387)Gca>Aca		DENN/MADD domain containing 4A							58	53	54					15																	66044893		1820	4069	5889	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66044893C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.385G>A	15.37:g.66044893C>T	ENSP00000396830:p.Ala129Thr					DENND4A_ENST00000431932.2_Missense_Mutation_p.A129T	p.A129T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			4	600	-			129			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.385G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		16	85	0	0	0	1	0	16	85					T	66044893	C	T	66044893	3	4	79	1	0	0	0	0	1	0	0	0	4449	768	27	1	5455	1	DENND4A	15	66044893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	66044893	36486499	15475	25792											
RAB11A	8766	broad.mit.edu	37	chr15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcctacagatgaagcaagAgcttttgcaggttagtgata	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	140					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378																																						ENST00000261890.2																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(418-420)agA>agT		RAB11A, member RAS oncogene family							203	181	188					15																	66170283		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66170283A>T	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.420A>T	15.37:g.66170283A>T	ENSP00000261890:p.Arg140Ser					RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S	p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN			3	548	+			140					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.420A>T	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732545	0.48939	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76578	-1.03;-1.03	5.59	4.4	0.53042	Small GTP-binding protein domain (1);	0.045017	0.85682	D	0.000000	T	0.61813	0.2377	N	0.20328	0.56	0.53688	D	0.999975	B;B	0.14805	0.001;0.011	B;B	0.14023	0.002;0.01	T	0.61043	-0.7142	10	0.59425	D	0.04	.	7.7218	0.28736	0.7179:0.1441:0.0:0.138	.	140;140	B4DT13;P62491	.;RB11A_HUMAN	S	140	ENSP00000261890:R140S;ENSP00000405767:R140S	ENSP00000261890:R140S	R	+	3	2	RAB11A	63957337	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.411000	0.21115	2.132000	0.65825	0.533000	0.62120	AGA		0.378	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			98	506	0	0	0	1	0	98	506					T	66170283	A	T	66170283	3	4	79	1	0	0	0	0	1	0	0	0	12941	301	11	5	430	5	RAB11A	15	66170283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125390	66170283	36361109	15476	25793											
MEGF11	84465	broad.mit.edu	37	chr15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgggacggcccattgGcagggctctgtcttactggg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1035					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGCCCATTGGCAGGGCTCTG	0.483																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(3103-3105)gCc>gTc		multiple EGF-like-domains 11							135	131	132					15																	66190303		2201	4298	6499	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190303G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3104C>T	15.37:g.66190303G>A	ENSP00000386908:p.Ala1035Val					MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V	p.A1035V			A6BM72	MEG11_HUMAN			23	3276	-			1035					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.3104C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175873	0.57692	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.23	5.23	0.72850	.	0.206026	0.23813	U	0.044314	T	0.81800	0.4899	N	0.22421	0.69	0.80722	D	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.057;0.121	T	0.80547	-0.1334	10	0.62326	D	0.03	.	17.9876	0.89159	0.0:0.0:1.0:0.0	.	1035;960	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	1035;960;1035;960	ENSP00000386908:A1035V;ENSP00000288745:A960V;ENSP00000414475:A1035V;ENSP00000378987:A960V	ENSP00000288745:A960V	A	-	2	0	MEGF11	63977357	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.576000	0.60915	2.713000	0.92767	0.655000	0.94253	GCC		0.483	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		78	373	0	0	0	1	0	78	373					A	66190303	G	A	66190303	3	1	79	1	0	0	0	0	1	0	0	0	9502	1203	42	2	34	2	MEGF11	15	66190303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20020	66190303	36341089	15477	25794											
MEGF11	84465	broad.mit.edu	37	chr15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggctgttcctaggtaggtCgtatgcattctggatatagc	12	7	1	0	rs267604294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1014					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTAGGTAGGTCGTATGCATTC	0.478																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(3040-3042)Gac>Aac		multiple EGF-like-domains 11							139	124	129					15																	66190367		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190367C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3040G>A	15.37:g.66190367C>T	ENSP00000386908:p.Asp1014Asn					MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N	p.D1014N			A6BM72	MEG11_HUMAN			23	3212	-			1014					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.3040G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838665	0.71373	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95103	-3.61;-3.5;-3.61;-3.5	5.03	4.12	0.48240	.	0.000000	0.39020	U	0.001487	D	0.92064	0.7485	M	0.73217	2.22	0.80722	D	1	B;B	0.34255	0.445;0.374	B;B	0.20577	0.03;0.025	D	0.91630	0.5318	10	0.87932	D	0	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	1014;939	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	1014;939;1014;939	ENSP00000386908:D1014N;ENSP00000288745:D939N;ENSP00000414475:D1014N;ENSP00000378987:D939N	ENSP00000288745:D939N	D	-	1	0	MEGF11	63977421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.452000	0.52971	1.345000	0.45676	0.655000	0.94253	GAC		0.478	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		44	219	0	0	0	1	0	44	219					T	66190367	C	T	66190367	3	4	79	1	0	0	0	0	1	0	0	0	9502	884	31	1	98	1	MEGF11	15	66190367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	66190367	36341025	15478	25795											
DIS3L	115752	broad.mit.edu	37	chr15	66607510	66607510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgagaatgactgtgaCgacaaggcttcgggcgagtc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66607510C>T	ENST00000319212.4	+	7	1001	c.951C>T	c.(949-951)gaC>gaT	p.D317D	DIS3L_ENST00000319194.5_Silent_p.D234D|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.D183D	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	317					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGACTGTGACGACAAGGCTT	0.498																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(700-702)gaC>gaT		DIS3 mitotic control homolog (S. cerevisiae)-like							113	103	106					15																	66607510		2201	4299	6500	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66607510C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.951C>T	15.37:g.66607510C>T						DIS3L_ENST00000441424.2_Silent_p.D183D|DIS3L_ENST00000319212.4_Silent_p.D317D|RP11-352G18.2_ENST00000565993.1_RNA	p.D234D	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			7	963	+			317					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.702C>T	CCDS45286.1																																																																																				0.498	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		9	365	0	0	0	1	0	9	365					T	66607510	C	T	66607510	2	4	79	1	0	0	0	0	0	0	0	1	4552	535	19	1		1	DIS3L	15	66607510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417143	66607510	35923882	15479	25796											
TIPIN	54962	broad.mit.edu	37	chr15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaattctttgttgttgctCttctgttaggcttctactta	6	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	198					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGTTGTTGCTCTTCTGTTAGG	0.373																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(592-594)Gag>Aag		TIMELESS interacting protein							113	105	108					15																	66633578		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66633578C>T	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.592G>A	15.37:g.66633578C>T	ENSP00000261881:p.Glu198Lys					TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	p.E198K	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			7	677	-			198					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.592G>A	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441037	0.96168	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.32753	1.44;1.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.53933	-0.8368	10	0.72032	D	0.01	-11.8662	18.1069	0.89523	0.0:1.0:0.0:0.0	.	198	Q9BVW5	TIPIN_HUMAN	K	97;198	ENSP00000356682:E97K;ENSP00000261881:E198K	ENSP00000261881:E198K	E	-	1	0	TIPIN	64420632	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.448000	0.60027	2.530000	0.85305	0.557000	0.71058	GAG		0.373	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		34	344	0	0	0	1	0	34	344					T	66633578	C	T	66633578	3	4	79	1	0	0	0	0	1	0	0	0	15977	922	32	2	321	2	TIPIN	15	66633578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26068	66633578	35897814	15480	25797											
MAP2K1	5604	broad.mit.edu	37	chr15	66729129	66729129	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatccggaaccagatcataAgggagctgcaggttctgcat	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCAGATCATAAGGGAGCTGCA	0.488																																						ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(337-339)Agg>Cgg		mitogen-activated protein kinase kinase 1							132	105	114					15																	66729129		2201	4299	6500	SO:0001819	synonymous_variant	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729129A>C	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.337A>C	15.37:g.66729129A>C							p.R113R	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			3	868	+			113			Protein kinase.			Silent	SNP	ENST00000307102.5	37	c.337A>C	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539635	0.27563	.	.	ENSG00000169032	ENST00000425818	.	.	.	4.52	-3.33	0.04958	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	4	.	.	.	-26.682	14.717	0.69277	0.2366:0.7634:0.0:0.0	.	.	.	.	T	52	.	.	K	+	2	0	MAP2K1	64516183	0.932000	0.31603	0.982000	0.44146	0.993000	0.82548	0.554000	0.23407	-0.367000	0.08052	0.533000	0.62120	AAG		0.488	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			59	294	0	0	0	1	0	59	294					C	66729129	A	C	66729129	2	2	79	1	0	0	0	0	0	0	0	1	9277	63	3	4		4	MAP2K1	15	66729129	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95551	66729129	35802263	15481	25798											
RPL4	6124	broad.mit.edu	37	chr15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttggcttgtagtgCcgctgctgcagcagctgcct	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000307961.6	-	10	1170	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.A266T|SNAPC5_ENST00000395589.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000307979.7_5'Flank|MIR4512_ENST00000583257.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	360					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1078-1080)Gca>Aca		ribosomal protein L4							32	36	35					15																	66791951		2197	4288	6485	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66791951C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1078G>A	15.37:g.66791951C>T	ENSP00000311430:p.Ala360Thr					RPL4_ENST00000568588.1_Missense_Mutation_p.A266T	p.A360T	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			10	1170	-			360					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1078G>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154500	0.06544	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	2.03	2.03	0.26663	.	0.606515	0.15758	N	0.246053	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	9	0.18276	T	0.48	0.0827	4.5628	0.12168	0.0:0.6969:0.0:0.3031	.	360	P36578	RL4_HUMAN	T	360	.	ENSP00000311430:A360T	A	-	1	0	RPL4	64579005	0.024000	0.19004	0.023000	0.16930	0.045000	0.14185	1.306000	0.33505	1.048000	0.40298	0.313000	0.20887	GCA		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		19	284	0	0	0	1	0	19	284					T	66791951	C	T	66791951	3	4	79	1	0	0	0	0	1	0	0	0	13645	739	26	2	209	2	RPL4	15	66791951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62822	66791951	35739441	15482	25799											
RPL4	6124	broad.mit.edu	37	chr15	66793365	66793365	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggaaagcactttcagtcCaaatgcagaaacgtcccaca	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66793365C>T	ENST00000307961.6	-	7	847	c.755G>A	c.(754-756)tGg>tAg	p.W252*	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	252					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTTCAGTCCAAATGCAGAA	0.403																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(754-756)tGg>tAg		ribosomal protein L4							66	64	65					15																	66793365		2201	4299	6500	SO:0001587	stop_gained	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793365C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.755G>A	15.37:g.66793365C>T	ENSP00000311430:p.Trp252*					RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*	p.W252*	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			7	847	-			252					A8K502|P39029|Q4VBR0|Q969Z9	Nonsense_Mutation	SNP	ENST00000307961.6	37	c.755G>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	43	10.289014	0.99376	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9401	15.7932	0.78384	0.137:0.863:0.0:0.0	.	.	.	.	X	252	.	ENSP00000311430:W252X	W	-	2	0	RPL4	64580419	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	1.311000	0.45024	0.563000	0.77884	TGG		0.403	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		9	346	0	0	0	1	0	9	346					T	66793365	C	T	66793365	4	4	79	1	0	0	0	0	0	1	0	0	13645	595	21	2	544	2	RPL4	15	66793365	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	66793365	35738027	15483	25800											
RPL4	6124	broad.mit.edu	37	chr15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaacagcttccttggtcttCttgtagccttcaactttatc	5	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000307961.6	-	5	578	c.486G>T	c.(484-486)aaG>aaT	p.K162N	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.K68N|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	162					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(484-486)aaG>aaT		ribosomal protein L4							90	86	87					15																	66794186		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66794186C>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.486G>T	15.37:g.66794186C>A	ENSP00000311430:p.Lys162Asn					RPL4_ENST00000568588.1_Missense_Mutation_p.K68N	p.K162N	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			5	578	-			162					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.486G>T	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725205	0.48833	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42744	1.35	0.80722	D	1	B;B	0.27351	0.017;0.176	B;B	0.32864	0.056;0.154	T	0.52396	-0.8581	9	0.32370	T	0.25	-19.9368	13.0628	0.59015	0.0:0.9239:0.0:0.0761	.	162;162	B4DFI6;P36578	.;RL4_HUMAN	N	162	.	ENSP00000311430:K162N	K	-	3	2	RPL4	64581240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.652000	0.90054	0.655000	0.94253	AAG		0.388	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		19	209	1	0	3.32936e-07	1	3.45006e-07	19	209					A	66794186	C	A	66794186	3	1	79	1	0	0	0	0	1	0	0	0	13645	912	32	3	821	3	RPL4	15	66794186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821	66794186	35737206	15484	25801											
ZWILCH	55055	broad.mit.edu	37	chr15	66807941	66807941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatctgatttctctactggCgaaaatgttggaccacttgc	8	9	2	1	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000307897.5	+	4	659	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	93					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTCTACTGGCGAAAATGTTG	0.358																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(277-279)ggC>ggT		zwilch kinetochore protein		C		0,4402		0,0,2201	104	99	101		279	-1.4	1	15	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZWILCH	NM_017975.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		93/592	66807941	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66807941C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.279C>T	15.37:g.66807941C>T						ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000564517.1_Intron	p.G93G	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			4	659	+			93					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.279C>T	CCDS10219.1																																																																																				0.358	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		35	190	0	0	0	1	0	35	190					T	66807941	C	T	66807941	2	4	79	1	0	0	0	0	0	0	0	1	18301	755	27	1		1	ZWILCH	15	66807941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13755	66807941	35723451	15485	25802											
ZWILCH	55055	broad.mit.edu	37	chr15	66813472	66813472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcacaaactgcgatcGctttggatatttcctggagt	9	10	1	0	rs373537835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66813472G>A	ENST00000307897.5	+	7	1056	c.676G>A	c.(676-678)Gct>Act	p.A226T	ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	226					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AACTGCGATCGCTTTGGATAT	0.463																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(676-678)Gct>Act		zwilch kinetochore protein		A	THR/ALA	1,4401	825.8+/-416.5	0,1,2200	262	262	262		676	1.6	0.1	15		262	0,8598		0,0,4299	no	missense	ZWILCH	NM_017975.3	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	226/592	66813472	1,12999	2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66813472G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.676G>A	15.37:g.66813472G>A	ENSP00000311429:p.Ala226Thr					ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron	p.A226T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			7	1056	+			226					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.676G>A	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.529569	0.00951	2.27E-4	0.0	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.35236	1.32;1.32;1.32	5.63	1.56	0.23342	.	0.391190	0.29059	N	0.013277	T	0.05456	0.0144	N	0.00119	-2.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.02654	T	1	-7.5116	4.4607	0.11665	0.5438:0.0:0.2255:0.2307	.	226	Q9H900	ZWILC_HUMAN	T	226;112;112	ENSP00000311429:A226T;ENSP00000402217:A112T;ENSP00000437749:A112T	ENSP00000311429:A226T	A	+	1	0	ZWILCH	64600526	0.116000	0.22171	0.128000	0.21923	0.053000	0.15095	1.114000	0.31196	0.079000	0.16929	-0.269000	0.10298	GCT		0.463	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		30	1521	0	0	0	1	0	30	1521					A	66813472	G	A	66813472	3	1	79	1	0	0	0	0	1	0	0	0	18301	1087	38	1	702	1	ZWILCH	15	66813472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5531	66813472	35717920	15486	25803											
LCTL	197021	broad.mit.edu	37	chr15	66844115	66844115	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caacatagtagaatccatatCtatctgagtatcctttctcc	4	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66844115C>A	ENST00000341509.5	-	11	1540	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	470					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAATCCATATCTATCTGAGTA	0.353																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1408-1410)aGa>aTa		lactase-like							147	150	149					15																	66844115		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66844115C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1409G>T	15.37:g.66844115C>A	ENSP00000343490:p.Arg470Ile					LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	p.R470I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			11	1540	-			470					B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.1409G>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622767	0.87460	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.50277	0.75;0.75	5.77	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.041706	0.85682	D	0.000000	T	0.79358	0.4432	H	0.98612	4.28	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.86776	0.1976	10	0.87932	D	0	-21.9098	13.1925	0.59719	0.0:0.9231:0.0:0.0769	.	470	Q6UWM7	LCTL_HUMAN	I	297;470	ENSP00000445419:R297I;ENSP00000343490:R470I	ENSP00000343490:R470I	R	-	2	0	LCTL	64631169	1.000000	0.71417	0.786000	0.31890	0.980000	0.70556	5.469000	0.66749	1.439000	0.47511	0.655000	0.94253	AGA		0.353	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		15	720	1	0	7.93312e-07	1	8.20014e-07	15	720					A	66844115	C	A	66844115	3	1	79	1	0	0	0	0	1	0	0	0	8725	913	32	3	306	3	LCTL	15	66844115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30643	66844115	35687277	15487	25804											
LCTL	197021	broad.mit.edu	37	chr15	66857032	66857032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaccttgtagtagccGtcacaggctacatctgccgt	10	13	2	0	rs544840401	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	88					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D88D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		22426	0.0		0.0	False		,,,				2504	0.0031					ENST00000341509.5																			1	Substitution - coding silent(1)	p.D88D(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(262-264)gaC>gaT		lactase-like							192	125	148					15																	66857032		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66857032G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.264C>T	15.37:g.66857032G>A						LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	p.D88D	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			2	395	-			88					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.264C>T	CCDS10220.1																																																																																				0.597	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		78	286	0	0	0	1	0	78	286					A	66857032	G	A	66857032	2	1	79	1	0	0	0	0	0	0	0	1	8725	1136	40	1		1	LCTL	15	66857032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12917	66857032	35674360	15488	25805											
AAGAB	79719	broad.mit.edu	37	chr15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgctttactcctgtagattCtgggaagtcatctaatcagg	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000261880.5	-	5	567	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403																																						ENST00000261880.5																			1	Substitution - Nonsense(1)	p.E155*(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(463-465)Gaa>Aaa		alpha- and gamma-adaptin binding protein							211	198	202					15																	67524224		1887	4126	6013	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67524224C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.463G>A	15.37:g.67524224C>T	ENSP00000261880:p.Glu155Lys					AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	p.E155K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			5	567	-			155					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.463G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306213	0.95629	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.55588	0.51;0.51	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	T	0.66819	0.2828	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.69639	-0.5091	10	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	155	Q6PD74	AAGAB_HUMAN	K	155;46	ENSP00000261880:E155K;ENSP00000440735:E46K	ENSP00000261880:E155K	E	-	1	0	AAGAB	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA		0.403	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		149	676	0	0	0	1	0	149	676					T	67524224	C	T	67524224	3	4	79	1	0	0	0	0	1	0	0	0	15	922	32	2	508	2	AAGAB	15	67524224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	667192	67524224	35007168	15489	25806											
IQCH	64799	broad.mit.edu	37	chr15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgcatcaggacctccaGgaggactattatccatatcc	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	448										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGGACCTCCAGGAGGACTATT	0.428																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1342-1344)aGg>aTg		IQ motif containing H							151	131	138					15																	67665742		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67665742G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1343G>T	15.37:g.67665742G>T	ENSP00000336861:p.Arg448Met					IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	p.R448M	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	10	1409	+			448					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1343G>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977290	0.53720	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.50277	0.76;0.8;0.75;0.79	5.95	5.04	0.67666	.	0.091195	0.85682	D	0.000000	T	0.69333	0.3099	M	0.78637	2.42	0.29267	N	0.870963	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.961;0.977;0.982;0.997	T	0.69914	-0.5016	10	0.62326	D	0.03	0.0092	15.0812	0.72117	0.0677:0.0:0.9323:0.0	.	196;200;448;275	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	M	275;196;448;200	ENSP00000351617:R275M;ENSP00000444118:R196M;ENSP00000336861:R448M;ENSP00000353419:R200M	ENSP00000336861:R448M	R	+	2	0	IQCH	65452796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.251000	0.58778	1.520000	0.48965	0.655000	0.94253	AGG		0.428	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		73	317	1	0	5.00163e-47	1	6.15206e-47	73	317					T	67665742	G	T	67665742	3	4	79	1	0	0	0	0	1	0	0	0	7841	1000	35	3	1509	3	IQCH	15	67665742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141518	67665742	34865650	15490	25807											
IQCH	64799	broad.mit.edu	37	chr15	67768123	67768123	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactatgtttttctccagatCtgtagggcccatggcattgg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2764-2766)atC>atA		IQ motif containing H							151	122	132					15																	67768123		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67768123C>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2766C>A	15.37:g.67768123C>A						IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I|IQCH-AS1_ENST00000559298.1_lincRNA	p.I922I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2832	+			922					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.2766C>A	CCDS32273.1																																																																																				0.502	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		70	251	1	0	2.18329e-32	1	2.57781e-32	70	251					A	67768123	C	A	67768123	2	1	79	1	0	0	0	0	0	0	0	1	7841	903	32	3		3	IQCH	15	67768123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102381	67768123	34763269	15491	25808											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118532	68118532	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacaaccgccgcgtggcCctgggcatcacgtgcgtgca	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68118532C>A	ENST00000380035.2	+	2	424	c.366C>A	c.(364-366)gcC>gcA	p.A122A	SKOR1_ENST00000554054.1_Silent_p.A94A|SKOR1_ENST00000389002.1_Silent_p.A113A|SKOR1_ENST00000341418.5_Silent_p.A308A|SKOR1_ENST00000554240.1_Silent_p.A83A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	122					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCCGCGTGGCCCTGGGCATCA	0.637																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(364-366)gcC>gcA		SKI family transcriptional corepressor 1							77	75	76					15																	68118532		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118532C>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.366C>A	15.37:g.68118532C>A						SKOR1_ENST00000554054.1_Silent_p.A94A|SKOR1_ENST00000389002.1_Silent_p.A113A|SKOR1_ENST00000554240.1_Silent_p.A83A|SKOR1_ENST00000341418.5_Silent_p.A308A	p.A122A			P84550	SKOR1_HUMAN			2	424	+			122					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.366C>A																																																																																					0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		74	375	1	0	3.52157e-22	1	3.98061e-22	74	375					A	68118532	C	A	68118532	2	1	79	1	0	0	0	0	0	0	0	1	8686	610	22	3		3	LBXCOR1	15	68118532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350409	68118532	34412860	15492	25809											
PIAS1	8554	broad.mit.edu	37	chr15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagtttcagatgatcaaGacctcctacactcgtctcgg	8	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000249636.6	+	14	1865	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.D575Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	573	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1723-1725)Gac>Tac		protein inhibitor of activated STAT, 1							88	86	87					15																	68479934		1914	4118	6032	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479934G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1717G>T	15.37:g.68479934G>T	ENSP00000249636:p.Asp573Tyr					PIAS1_ENST00000249636.6_Missense_Mutation_p.D573Y	p.D575Y			O75925	PIAS1_HUMAN			15	2464	+			573			4 X 4 AA repeats of N-T-S-L.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1723G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831959	0.91036	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36878	1.24;1.23	5.85	5.85	0.93711	.	0.134217	0.64402	D	0.000002	T	0.40372	0.1114	L	0.53249	1.67	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19484	-1.0304	10	0.87932	D	0	-7.6537	20.1731	0.98165	0.0:0.0:1.0:0.0	.	573	O75925	PIAS1_HUMAN	Y	573;575	ENSP00000249636:D573Y;ENSP00000438574:D575Y	ENSP00000249636:D573Y	D	+	1	0	PIAS1	66266988	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.122000	0.94380	2.768000	0.95171	0.655000	0.94253	GAC		0.463	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			70	338	1	0	2.54232e-27	1	2.94239e-27	70	338					T	68479934	G	T	68479934	3	4	79	1	0	0	0	0	1	0	0	0	11917	942	33	3	1771	3	PIAS1	15	68479934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361402	68479934	34051458	15493	25810											
PIAS1	8554	broad.mit.edu	37	chr15	68479978	68479978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccgtatacctcctcacaGatgtttcttgatcagttaag	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000249636.6	+	14	1909	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	PIAS1_ENST00000545237.1_Silent_p.Q589Q	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1765-1767)caG>caA		protein inhibitor of activated STAT, 1							87	84	85					15																	68479978		1959	4164	6123	SO:0001819	synonymous_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479978G>A	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1761G>A	15.37:g.68479978G>A						PIAS1_ENST00000249636.6_Silent_p.Q587Q	p.Q589Q			O75925	PIAS1_HUMAN			15	2508	+			587			4 X 4 AA repeats of N-T-S-L.|Ser-rich.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	c.1767G>A	CCDS45290.1																																																																																				0.502	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			63	275	0	0	0	1	0	63	275					A	68479978	G	A	68479978	2	1	79	1	0	0	0	0	0	0	0	1	11917	933	33	2		2	PIAS1	15	68479978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	68479978	34051414	15494	25811											
CLN6	54982	broad.mit.edu	37	chr15	68500636	68500636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaggagaagaggaagaGgccgttgctgtccaggaaga	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500636G>T	ENST00000249806.5	-	7	935	c.778C>A	c.(778-780)Ctc>Atc	p.L260I	CALML4_ENST00000395465.3_5'Flank|CALML4_ENST00000467889.1_5'Flank|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|CALML4_ENST00000448060.2_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	260					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGAGGAAGAGGCCGTTGCTG	0.592																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(778-780)Ctc>Atc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							115	106	109					15																	68500636		2200	4298	6498	SO:0001583	missense	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68500636G>T	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.778C>A	15.37:g.68500636G>T	ENSP00000249806:p.Leu260Ile					CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|RP11-315D16.2_ENST00000562767.1_Intron	p.L260I	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			7	935	-			260					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.778C>A	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428218	0.83667	.	.	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.95103	-3.61;-3.61;-3.61	5.24	4.32	0.51571	.	0.074290	0.56097	D	0.000039	D	0.95345	0.8489	M	0.61703	1.905	0.44149	D	0.996948	D;P;D	0.59767	0.986;0.767;0.961	P;B;P	0.56278	0.795;0.439;0.616	D	0.94807	0.7975	10	0.51188	T	0.08	-32.0251	13.6395	0.62241	0.0752:0.0:0.9248:0.0	.	292;131;260	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	I	260;131;292	ENSP00000249806:L260I;ENSP00000393826:L131I;ENSP00000445770:L292I	ENSP00000249806:L260I	L	-	1	0	CLN6	66287690	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.041000	0.70988	1.204000	0.43247	0.462000	0.41574	CTC		0.592	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		13	652	1	0	5.50884e-06	1	5.65664e-06	13	652					T	68500636	G	T	68500636	3	4	79	1	0	0	0	0	1	0	0	0	3554	1000	35	3	161	3	CLN6	15	68500636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20658	68500636	34030756	15495	25812											
CLN6	54982	broad.mit.edu	37	chr15	68500697	68500697	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacgagggccagcatggcGaagaaggtgaagatgaagag	18	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CALML4_ENST00000395465.3_5'Flank|CLN6_ENST00000564752.1_3'UTR|CALML4_ENST00000467889.1_5'Flank|CLN6_ENST00000538696.1_Silent_p.F271F|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000418702.2_Silent_p.F110F|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Silent_p.F86F|CALML4_ENST00000448060.2_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	239					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(715-717)ttC>ttT		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							75	64	68					15																	68500697		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68500697G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.717C>T	15.37:g.68500697G>A						CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.F86F|RP11-315D16.2_ENST00000562767.1_Intron	p.F239F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			7	874	-			239					A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.717C>T	CCDS10227.1																																																																																				0.607	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		58	312	0	0	0	1	0	58	312					A	68500697	G	A	68500697	2	1	79	1	0	0	0	0	0	0	0	1	3554	1049	37	1		1	CLN6	15	68500697	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	68500697	34030695	15496	25813											
CORO2B	10391	broad.mit.edu	37	chr15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccgtagctccaagttccGgaatgtctacgggaaggtgg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000566799.1	+	2	82	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	CORO2B_ENST00000543950.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	18					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612																																						ENST00000543950.1																			1	Substitution - Missense(1)	p.R18Q(1)	large_intestine(1)	kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(37-39)cGg>cAg		coronin, actin binding protein, 2B							87	73	77					15																	68937536		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68937536G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.53G>A	15.37:g.68937536G>A	ENSP00000454783:p.Arg18Gln					CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000566799.1_Missense_Mutation_p.R18Q	p.R13Q	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			2	392	+			18					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.38G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	34	5.338139	0.95758	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71817	-0.6;-0.6	4.38	4.38	0.52667	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91793	0.5445	10	0.87932	D	0	-17.718	15.8812	0.79207	0.0:0.0:1.0:0.0	.	18	Q9UQ03	COR2B_HUMAN	Q	18;13;13	ENSP00000446250:R13Q;ENSP00000443819:R13Q	ENSP00000261861:R18Q	R	+	2	0	CORO2B	66724590	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.540000	0.98080	2.142000	0.66516	0.563000	0.77884	CGG		0.612	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		42	169	0	0	0	1	0	42	169					A	68937536	G	A	68937536	3	1	79	1	0	0	0	0	1	0	0	0	3766	1116	39	1	59	1	CORO2B	15	68937536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	436839	68937536	33593856	15497	25814											
CORO2B	10391	broad.mit.edu	37	chr15	69006382	69006382	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgccctctgggaccaggTcagccacggggaggcctgct	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000566799.1	+	6	794		c.e6+2		CORO2B_ENST00000543950.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000540068.1_Splice_Site			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.e6+2		coronin, actin binding protein, 2B							58	46	50					15																	69006382		2200	4298	6498	SO:0001630	splice_region_variant	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69006382T>C	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.765+2T>C	15.37:g.69006382T>C						CORO2B_ENST00000540068.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000566799.1_Splice_Site		NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			6	1104	+								A8K0W3|O94767|Q8TAN1	Splice_Site	SNP	ENST00000566799.1	37		CCDS10229.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601805	0.87055	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3006	0.60324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CORO2B	66793436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.899000	0.87370	2.018000	0.59344	0.533000	0.62120	.		0.607	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	Intron	8	199	0	0	0	1	0	8	199					C	69006382	T	C	69006382	5	2	79	1	0	0	0	0	0	0	1	0	3766	1681	58	4	789	4	CORO2B	15	69006382	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68846	69006382	33525010	15498	25815											
SPESP1	246777	broad.mit.edu	37	chr15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcaatacattaaaaaatAtgtgtagatcaaggagagtc	7	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	337					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1009-1011)Atg>Gtg		sperm equatorial segment protein 1							39	42	41					15																	69238882		1990	4140	6130	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238882A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.1009A>G	15.37:g.69238882A>G	ENSP00000312284:p.Met337Val					RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	p.M337V	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	1163	+			337					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.1009A>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093309	0.01858	.	.	ENSG00000258484	ENST00000310673	T	0.18810	2.19	4.94	1.23	0.21249	.	1.099980	0.07012	N	0.825205	T	0.09992	0.0245	N	0.14661	0.345	0.80722	D	1	B	0.32573	0.376	B	0.27887	0.084	T	0.33085	-0.9882	10	0.29301	T	0.29	-0.7718	2.6801	0.05091	0.5967:0.0:0.2104:0.1929	.	337	Q6UW49	SPESP_HUMAN	V	337	ENSP00000312284:M337V	ENSP00000312284:M337V	M	+	1	0	SPESP1	67025936	1.000000	0.71417	0.987000	0.45799	0.089000	0.18198	1.328000	0.33758	0.851000	0.35264	0.533000	0.62120	ATG		0.269	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		64	230	0	0	0	1	0	64	230					G	69238882	A	G	69238882	3	3	79	1	0	0	0	0	1	0	0	0	15092	449	16	4	1015	4	SPESP1	15	69238882	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	232500	69238882	33292510	15499	25816											
NOX5	79400	broad.mit.edu	37	chr15	69323949	69323949	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcgggacaggcagtggCtccattgacccggatgagct	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000388866.3	+	4	458	c.417C>A	c.(415-417)ggC>ggA	p.G139G	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Silent_p.G111G|NOX5_ENST00000260364.5_Silent_p.G121G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000448182.3_Silent_p.G93G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	139	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCAGTGGCTCCATTGACC	0.662																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(361-363)ggC>ggA		NADPH oxidase, EF-hand calcium binding domain 5							36	36	36					15																	69323949		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69323949C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.417C>A	15.37:g.69323949C>A						NOX5_ENST00000530406.2_Silent_p.G111G|NOX5_ENST00000448182.3_Silent_p.G93G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000388866.3_Silent_p.G139G	p.G121G			Q96PH1	NOX5_HUMAN			5	664	+			139			EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.363C>A	CCDS32276.2																																																																																				0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		37	162	1	0	1.836e-18	1	2.03801e-18	37	162					A	69323949	C	A	69323949	2	1	79	1	0	0	0	0	0	0	0	1	10601	784	28	3		3	NOX5	15	69323949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85067	69323949	33207443	15500	25817											
NOX5	79400	broad.mit.edu	37	chr15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttccccggagtcaTggagaacctgaccatcaggt	12	13	2	2	rs377391333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000388866.3	+	4	643	c.602T>C	c.(601-603)aTg>aCg	p.M201T	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T|NOX5_ENST00000260364.5_Missense_Mutation_p.M183T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	201					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCGGAGTCATGGAGAACCTG	0.662																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(547-549)aTg>aCg		NADPH oxidase, EF-hand calcium binding domain 5		T	THR/MET,THR/MET,THR/MET	1,4397		0,1,2198	18	18	18		518,497,602	0.9	1	15		18	0,8596		0,0,4298	no	missense,missense,missense	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	81,81,81	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	173/738,166/731,201/766	69324134	1,12993	2199	4298	6497	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69324134T>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.602T>C	15.37:g.69324134T>C	ENSP00000373518:p.Met201Thr					NOX5_ENST00000530406.2_Missense_Mutation_p.M173T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000388866.3_Missense_Mutation_p.M201T	p.M183T			Q96PH1	NOX5_HUMAN			5	849	+			201			EF-hand 4.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.548T>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234200	0.58886	2.27E-4	0.0	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.66995	-0.24;1.6;-0.24	3.33	0.912	0.19349	EF-hand-like domain (1);	0.161027	0.52532	U	0.000077	T	0.49423	0.1556	L	0.41961	1.31	0.41937	D	0.990592	B;B;B	0.20550	0.046;0.022;0.019	B;B;B	0.14578	0.011;0.004;0.011	T	0.23226	-1.0194	10	0.13470	T	0.59	.	6.9543	0.24562	0.0:0.1942:0.0:0.8058	.	166;201;173	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	166;183;201;173	ENSP00000416828:M166T;ENSP00000373518:M201T;ENSP00000432440:M173T	ENSP00000373518:M201T	M	+	2	0	NOX5	67111188	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	3.638000	0.54332	-0.118000	0.11851	-0.628000	0.03992	ATG		0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		20	93	0	0	0	1	0	20	93					C	69324134	T	C	69324134	3	2	79	1	0	0	0	0	1	0	0	0	10601	1464	51	4	649	4	NOX5	15	69324134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	185	69324134	33207258	15501	25818											
NOX5	79400	broad.mit.edu	37	chr15	69325509	69325509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctatgcaggcctccaCgtgctgctcttcgggctggc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	ENST00000388866.3	+	5	788	c.747C>T	c.(745-747)caC>caT	p.H249H	NOX5_ENST00000530406.2_Silent_p.H221H|NOX5_ENST00000260364.5_Silent_p.H231H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000448182.3_Silent_p.H203H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	249					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCCTCCACGTGCTGCTCT	0.731																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(691-693)caC>caT		NADPH oxidase, EF-hand calcium binding domain 5							14	14	14					15																	69325509		2191	4287	6478	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69325509C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.747C>T	15.37:g.69325509C>T						NOX5_ENST00000530406.2_Silent_p.H221H|NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000388866.3_Silent_p.H249H	p.H231H			Q96PH1	NOX5_HUMAN			6	994	+			249					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.693C>T	CCDS32276.2																																																																																				0.731	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		20	44	0	0	0	1	0	20	44					T	69325509	C	T	69325509	2	4	79	1	0	0	0	0	0	0	0	1	10601	535	19	1		1	NOX5	15	69325509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1375	69325509	33205883	15502	25819											
NOX5	79400	broad.mit.edu	37	chr15	69348991	69348991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaaggtgctgaagggCcattgtgagaagttcggctt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000388866.3	+	16	2294	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	NOX5_ENST00000530406.2_Silent_p.G723G|NOX5_ENST00000260364.5_Silent_p.G733G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000448182.3_Silent_p.G705G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	751					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGAAGGGCCATTGTGAGA	0.537																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2197-2199)ggC>ggT		NADPH oxidase, EF-hand calcium binding domain 5							84	81	82					15																	69348991		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348991C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2253C>T	15.37:g.69348991C>T						NOX5_ENST00000530406.2_Silent_p.G723G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000388866.3_Silent_p.G751G	p.G733G			Q96PH1	NOX5_HUMAN			17	2500	+			751					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.2199C>T	CCDS32276.2																																																																																				0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		67	239	0	0	0	1	0	67	239					T	69348991	C	T	69348991	2	4	79	1	0	0	0	0	0	0	0	1	10601	726	26	2		2	NOX5	15	69348991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23482	69348991	33182401	15503	25820											
KIF23	9493	broad.mit.edu	37	chr15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcgtgttcaacattaAattagttcaggctcccttgg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000260363.4	+	9	1040	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	308	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(922-924)aAa>aCa		kinesin family member 23							217	206	210					15																	69718750		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69718750A>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.923A>C	15.37:g.69718750A>C	ENSP00000260363:p.Lys308Thr					KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T	p.K308T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			9	1040	+			308			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.923A>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004930	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.53	4.4	0.53042	Kinesin, motor domain (5);	0.044773	0.85682	D	0.000000	T	0.70692	0.3253	N	0.12831	0.26	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.948;0.996;0.989	T	0.65038	-0.6265	10	0.13853	T	0.58	.	10.8694	0.46875	0.9254:0.0:0.0746:0.0	.	125;308;308	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	308;308;308;125	ENSP00000260363:K308T;ENSP00000304978:K308T;ENSP00000378790:K308T;ENSP00000442969:K125T	ENSP00000260363:K308T	K	+	2	0	KIF23	67505804	1.000000	0.71417	0.787000	0.31911	0.964000	0.63967	6.190000	0.72057	0.910000	0.36722	0.533000	0.62120	AAA		0.403	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				238	925	0	0	0	1	0	238	925					C	69718750	A	C	69718750	3	2	79	1	0	0	0	0	1	0	0	0	8321	14	1	4	957	4	KIF23	15	69718750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	369759	69718750	32812642	15504	25821											
KIF23	9493	broad.mit.edu	37	chr15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgactggaaaagaaaaacaAaactttagaatataaggttt	7	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000260363.4	+	15	1814	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	566					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGAAAAACAAAACTTTAGAA	0.353																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1696-1698)aAa>aCa		kinesin family member 23							60	64	63					15																	69730728		2199	4297	6496	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69730728A>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1697A>C	15.37:g.69730728A>C	ENSP00000260363:p.Lys566Thr					KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T	p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			15	1814	+			566					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1697A>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282333	0.80692	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.55	4.43	0.53597	.	0.087928	0.85682	D	0.000000	T	0.66694	0.2815	L	0.38175	1.15	0.58432	D	0.999995	P;D;D	0.71674	0.945;0.998;0.986	P;D;P	0.70487	0.493;0.969;0.835	T	0.62374	-0.6868	10	0.29301	T	0.29	.	10.2854	0.43564	0.9233:0.0:0.0767:0.0	.	383;566;566	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	566;566;566;383	ENSP00000260363:K566T;ENSP00000304978:K566T;ENSP00000378790:K566T;ENSP00000442969:K383T	ENSP00000260363:K566T	K	+	2	0	KIF23	67517782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.841000	0.75374	0.950000	0.37743	0.528000	0.53228	AAA		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	252	0	0	0	1	0	10	252					C	69730728	A	C	69730728	3	2	79	1	0	0	0	0	1	0	0	0	8321	14	1	4	1755	4	KIF23	15	69730728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11978	69730728	32800664	15505	25822											
TLE3	7090	broad.mit.edu	37	chr15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagccgcacctctgtgatCgagttcatggtggttcttct	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	190	Gly/Pro-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(568-570)Gat>Aat		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							32	33	32					15																	70358362		1858	4087	5945	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70358362C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.568G>A	15.37:g.70358362C>T	ENSP00000452871:p.Asp190Asn					TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N	p.D190N			Q04726	TLE3_HUMAN			7	1945	-			190			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.568G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094663	0.56075	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.52526	0.84;0.92;0.98;0.91;0.66	5.56	5.56	0.83823	.	0.112013	0.64402	D	0.000012	T	0.47488	0.1448	L	0.52573	1.65	0.53005	D	0.999965	B;B;B;P;P;P;P;P	0.38195	0.024;0.149;0.028;0.488;0.605;0.488;0.622;0.6	B;B;B;B;B;B;B;B	0.38296	0.011;0.025;0.027;0.088;0.087;0.088;0.27;0.181	T	0.41378	-0.9512	10	0.37606	T	0.19	-21.5296	19.131	0.93406	0.0:1.0:0.0:0.0	.	183;190;190;190;190;190;195;134	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	190;190;190;183;134	ENSP00000390007:D190N;ENSP00000394717:D190N;ENSP00000319233:D190N;ENSP00000415057:D183N;ENSP00000442594:D134N	ENSP00000319233:D190N	D	-	1	0	TLE3	68145416	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	5.861000	0.69553	2.609000	0.88269	0.655000	0.94253	GAT		0.672	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		35	201	0	0	0	1	0	35	201					T	70358362	C	T	70358362	3	4	79	1	0	0	0	0	1	0	0	0	15992	884	31	1	1806	1	TLE3	15	70358362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	627634	70358362	32173030	15506	25823											
UACA	55075	broad.mit.edu	37	chr15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcatcagcaaccataActtcctaaatttaaaaagaa	3	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	335					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1003-1005)gTt>gGt		uveal autoantigen with coiled-coil domains and ankyrin repeats							56	62	60					15																	70969475		2199	4295	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70969475A>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1004T>G	15.37:g.70969475A>C	ENSP00000314556:p.Val335Gly					UACA_ENST00000539319.1_Missense_Mutation_p.V226G|UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G	p.V335G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			12	1189	-			335					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1004T>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477796	0.63849	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34667	1.35;1.37;1.8	5.4	4.21	0.49690	.	0.591373	0.15170	N	0.276723	T	0.44222	0.1283	L	0.51422	1.61	0.44677	D	0.997667	D;D;D	0.57899	0.967;0.968;0.981	P;P;P	0.57324	0.604;0.587;0.818	T	0.10917	-1.0609	10	0.23302	T	0.38	-18.2105	9.5199	0.39129	0.7722:0.0:0.0:0.2278	.	226;335;322	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	G	335;322;226	ENSP00000314556:V335G;ENSP00000369319:V322G;ENSP00000438667:V226G	ENSP00000314556:V335G	V	-	2	0	UACA	68756529	0.988000	0.35896	0.972000	0.41901	0.984000	0.73092	2.588000	0.46137	2.175000	0.68902	0.477000	0.44152	GTT		0.274	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			50	211	0	0	0	1	0	50	211					C	70969475	A	C	70969475	3	2	79	1	0	0	0	0	1	0	0	0	16878	43	2	4	3278	4	UACA	15	70969475	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	611113	70969475	31561917	15507	25824											
UACA	55075	broad.mit.edu	37	chr15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaaaagtattctttgttCttgctgaatttttctcaacc	4	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	316					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTTTGTTCTTGCTGAATT	0.308																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(946-948)Gaa>Taa		uveal autoantigen with coiled-coil domains and ankyrin repeats							118	114	116					15																	70970491		2197	4292	6489	SO:0001587	stop_gained	55075					cytoskeleton|extracellular region		g.chr15:70970491C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.946G>T	15.37:g.70970491C>A	ENSP00000314556:p.Glu316*					UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*	p.E316*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			11	1131	-			316					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	c.946G>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.384269	0.98786	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.0907	17.5243	0.87795	0.0:1.0:0.0:0.0	.	.	.	.	X	316;303;303;207	.	ENSP00000314556:E316X	E	-	1	0	UACA	68757545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.560000	0.73950	2.658000	0.90341	0.585000	0.79938	GAA		0.308	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			15	200	1	0	1.49906e-05	1	1.53515e-05	15	200					A	70970491	C	A	70970491	4	1	79	1	0	0	0	0	0	1	0	0	16878	922	32	3	3340	3	UACA	15	70970491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	70970491	31560901	15508	25825											
UACA	55075	broad.mit.edu	37	chr15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaatttttctcaacctctCtttcaaatcttcattttcaa	1	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(922-924)Gag>Aag		uveal autoantigen with coiled-coil domains and ankyrin repeats							96	93	94					15																	70970515		2196	4295	6491	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70970515C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.922G>A	15.37:g.70970515C>T	ENSP00000314556:p.Glu308Lys					UACA_ENST00000539319.1_Missense_Mutation_p.E199K|UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K	p.E308K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			11	1107	-			308					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.922G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691807	0.88735	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38240	1.15;1.16;1.73	5.31	5.31	0.75309	.	0.270250	0.31922	N	0.006854	T	0.45094	0.1325	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.41929	0.765;0.653;0.653;0.73	P;B;B;B	0.44359	0.447;0.26;0.26;0.281	T	0.45906	-0.9229	10	0.62326	D	0.03	-17.5848	17.5243	0.87795	0.0:1.0:0.0:0.0	.	199;308;308;295	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	308;295;295;199	ENSP00000314556:E308K;ENSP00000369319:E295K;ENSP00000438667:E199K	ENSP00000314556:E308K	E	-	1	0	UACA	68757569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.912000	0.63335	2.658000	0.90341	0.585000	0.79938	GAG		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			30	155	0	0	0	1	0	30	155					T	70970515	C	T	70970515	3	4	79	1	0	0	0	0	1	0	0	0	16878	922	32	2	3364	2	UACA	15	70970515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	70970515	31560877	15509	25826											
THAP10	56906	broad.mit.edu	37	chr15	71174954	71174954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtagttgcattacacaGtctttttccaaacgctttca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363																																						ENST00000249861.4																			1	Substitution - Missense(1)	p.L205M(1)	kidney(1)	NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(613-615)Ctg>Ttg		THAP domain containing 10							121	116	118					15																	71174954		2199	4297	6496	SO:0001819	synonymous_variant	56906						DNA binding|metal ion binding	g.chr15:71174954G>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.613C>T	15.37:g.71174954G>A						LRRC49_ENST00000544974.2_Intron	p.L205L	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			3	1125	-			205					B2R8R0	Silent	SNP	ENST00000249861.4	37	c.613C>T	CCDS10237.1																																																																																				0.363	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		80	281	0	0	0	1	0	80	281					A	71174954	G	A	71174954	2	1	79	1	0	0	0	0	0	0	0	1	15894	1020	36	2		2	THAP10	15	71174954	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204439	71174954	31356438	15510	25827											
LRRC49	54839	broad.mit.edu	37	chr15	71188217	71188217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctaaataaagacacatcGtcattccccggtagactttt	6	10	1	2	rs200144297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.001		0.0	False		,,,				2504	0.0					ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(133-135)tcG>tcA		leucine rich repeat containing 49							90	86	88					15																	71188217		2199	4297	6496	SO:0001819	synonymous_variant	54839					cytoplasm|microtubule		g.chr15:71188217G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.135G>A	15.37:g.71188217G>A						LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000436542.2_3'UTR	p.S45S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			3	395	+			45					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	ENST00000260382.5	37	c.135G>A	CCDS32282.1																																																																																				0.323	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		56	206	0	0	0	1	0	56	206					A	71188217	G	A	71188217	2	1	79	1	0	0	0	0	0	0	0	1	9044	1132	40	1		1	LRRC49	15	71188217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13263	71188217	31343175	15511	25828											
LRRC49	54839	broad.mit.edu	37	chr15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaacgtagctcgacagTgggacttgcaacaacaacga	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000260382.5	+	11	1305	c.1045T>C	c.(1045-1047)Tgg>Cgg	p.W349R	LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	349						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1045-1047)Tgg>Cgg		leucine rich repeat containing 49							110	95	100					15																	71276472		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71276472T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1045T>C	15.37:g.71276472T>C	ENSP00000260382:p.Trp349Arg					LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000436542.2_3'UTR	p.W349R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			11	1305	+			349					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1045T>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218337	0.39201	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22743	1.94;1.94;1.94	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	T	0.28618	-1.0038	10	0.51188	T	0.08	-0.4011	11.7414	0.51794	0.0:0.0:0.0:1.0	.	354;321;305;349;339	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	339;349;305;321	ENSP00000439600:W339R;ENSP00000260382:W349R;ENSP00000414065:W305R	ENSP00000260382:W349R	W	+	1	0	LRRC49	69063526	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	4.186000	0.58337	1.939000	0.56221	0.383000	0.25322	TGG		0.378	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		47	185	0	0	0	1	0	47	185					C	71276472	T	C	71276472	3	2	79	1	0	0	0	0	1	0	0	0	9044	1696	59	4	1087	4	LRRC49	15	71276472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88255	71276472	31254920	15512	25829											
THSD4	79875	broad.mit.edu	37	chr15	72039244	72039244	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatgcagcaccgccaggttCtgtgccgccaggtgtacgcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	702	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2104-2106)Ctg>Ttg		thrombospondin, type I, domain containing 4							48	57	54					15																	72039244		2188	4294	6482	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039244C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2104C>T	15.37:g.72039244C>T						THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000567838.1_3'UTR	p.L702L			Q6ZMP0	THSD4_HUMAN			13	2238	+			702			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2104C>T	CCDS10238.2																																																																																				0.617	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		65	232	0	0	0	1	0	65	232					T	72039244	C	T	72039244	2	4	79	1	0	0	0	0	0	0	0	1	15930	912	32	2		2	THSD4	15	72039244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762772	72039244	30492148	15513	25830											
NR2E3	10002	broad.mit.edu	37	chr15	72103910	72103910	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaacggctgcagcgGcttcttcaagaggagcgtac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	ENST00000398840.2	+	0	396							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGCTGCAGCGGCTTCTTCAAG	0.672																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							16	20	19					15																	72103910		2060	4207	6267			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72103910G>A		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103910G>A										Q9Y5X4	NR2E3_HUMAN			0	396	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37			.	.	.	.	.	.	.	.	.	.	G	11.99	1.802620	0.31869	.	.	ENSG00000031544	ENST00000398840	.	.	.	4.13	4.13	0.48395	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.110700	0.64402	D	0.000011	D	0.85588	0.5731	H	0.95004	3.61	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	8	0.87932	D	0	.	12.98	0.58557	0.0:0.164:0.836:0.0	.	69	Q9Y5X4	NR2E3_HUMAN	D	69	.	ENSP00000381820:G69D	G	+	2	0	NR2E3	69890964	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	5.543000	0.67225	1.828000	0.53243	0.484000	0.47621	GGC		0.672	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		10	63	0	0	0	1	0	10	63					A	72103910	G	A	72103910	1	1	79	0	1	0	0	0	0	0	0	0	10668	1203	42	2		2	NR2E3	15	72103910	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64666	72103910	30427482	15514	25831											
MYO9A	4649	broad.mit.edu	37	chr15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggtgagtttttcacattCtttaatttttgtttgccctt	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000356056.5	-	42	7981	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2503	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)			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						TTTTCACATTCTTTAATTTTT	0.488																																						ENST00000356056.5																			0				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						c.(7507-7509)aaG>aaT		myosin IXA							152	157	156					15																	72119059		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.chr15:72119059C>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.7509G>T	15.37:g.72119059C>A	ENSP00000348349:p.Lys2503Asn					MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N	p.K2503N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7981	-			2503			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7509G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276009	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87571	-2.27;-2.27;-2.26	5.2	4.28	0.50868	.	.	.	.	.	D	0.86264	0.5891	L	0.32530	0.975	0.40054	D	0.975819	D;D	0.63046	0.986;0.992	P;P	0.55923	0.738;0.787	D	0.86612	0.1873	9	0.62326	D	0.03	.	10.2152	0.43164	0.0:0.8455:0.0:0.1544	.	2503;2267	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	N	2503;2574;2484	ENSP00000348349:K2503N;ENSP00000399162:K2574N;ENSP00000398250:K2484N	ENSP00000348349:K2503N	K	-	3	2	MYO9A	69906113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.348000	0.33987	1.164000	0.42652	0.563000	0.77884	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		138	696	1	0	7.9951e-93	1	1.0271e-92	138	696					A	72119059	C	A	72119059	3	1	79	1	0	0	0	0	1	0	0	0	10125	912	32	3	141	3	MYO9A	15	72119059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15149	72119059	30412333	15515	25832											
MYO9A	4649	broad.mit.edu	37	chr15	72119296	72119296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccacgacatctaaagaGtcttgctgctttttaagttg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000356056.5	-	42	7744	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000424560.1_Silent_p.D2495D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2424	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)			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						CATCTAAAGAGTCTTGCTGCT	0.428																																						ENST00000356056.5																			0				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						c.(7270-7272)gaC>gaT		myosin IXA							69	71	70					15																	72119296		2199	4297	6496	SO:0001819	synonymous_variant	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.chr15:72119296G>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.7272C>T	15.37:g.72119296G>A						MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Silent_p.D2495D	p.D2424D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7744	-			2424			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.7272C>T	CCDS10239.1																																																																																				0.428	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		56	269	0	0	0	1	0	56	269					A	72119296	G	A	72119296	2	1	79	1	0	0	0	0	0	0	0	1	10125	1020	36	2		2	MYO9A	15	72119296	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	72119296	30412096	15516	25833											
MYO9A	4649	broad.mit.edu	37	chr15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagacacagaaggcaaccGaactacaacaggagacgatg	10	10	1	3	rs371514628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2299	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)			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						GAAGGCAACCGAACTACAACA	0.488																																						ENST00000356056.5																			0				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						c.(6895-6897)Cgg>Tgg		myosin IXA		G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	134	126	128		6895	3.8	0.1	15		128	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	2299/2549	72122595	2,12990	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.chr15:72122595G>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.6895C>T	15.37:g.72122595G>A	ENSP00000348349:p.Arg2299Trp					MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W	p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			40	7367	-			2299			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6895C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587506	0.66105	2.27E-4	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85556	-1.99;-2.0;-1.98	4.73	3.79	0.43588	.	.	.	.	.	D	0.84763	0.5544	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.67145	0.996;0.994	B;P	0.46049	0.425;0.502	T	0.77194	-0.2677	9	0.66056	D	0.02	.	13.8244	0.63342	0.0:0.2922:0.7078:0.0	.	2299;2063	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	W	2299;2370;2280	ENSP00000348349:R2299W;ENSP00000399162:R2370W;ENSP00000398250:R2280W	ENSP00000348349:R2299W	R	-	1	2	MYO9A	69909649	0.995000	0.38212	0.088000	0.20740	0.981000	0.71138	4.128000	0.57951	1.324000	0.45282	0.655000	0.94253	CGG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		9	487	0	0	0	1	0	9	487					A	72122595	G	A	72122595	3	1	79	1	0	0	0	0	1	0	0	0	10125	1057	37	1	763	1	MYO9A	15	72122595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3299	72122595	30408797	15517	25834											
MYO9A	4649	broad.mit.edu	37	chr15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attagtcgaaccagactttcGataaataccttctgtataca	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000356056.5	-	35	6764	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2098	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)			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						CCAGACTTTCGATAAATACCT	0.373																																						ENST00000356056.5																			0				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						c.(6292-6294)Cga>Tga		myosin IXA							156	149	151					15																	72146772		2199	4297	6496	SO:0001587	stop_gained	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.chr15:72146772G>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.6292C>T	15.37:g.72146772G>A	ENSP00000348349:p.Arg2098*					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*	p.R2098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			35	6764	-			2098			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.6292C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	42	9.510016	0.99190	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2853	0.66243	0.0:0.0:0.7534:0.2466	.	.	.	.	X	2098;2169;2079	.	ENSP00000348349:R2098X	R	-	1	2	MYO9A	69933826	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.124000	0.42006	2.843000	0.97960	0.591000	0.81541	CGA		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		145	638	0	0	0	1	0	145	638					A	72146772	G	A	72146772	4	1	79	1	0	0	0	0	0	1	0	0	10125	1066	37	1	1386	1	MYO9A	15	72146772	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24177	72146772	30384620	15518	25835											
MYO9A	4649	broad.mit.edu	37	chr15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcaatgtagtttatgAgcttttccactactaaagga	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000356056.5	-	35	6717	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H|MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2082	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)			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						GTAGTTTATGAGCTTTTCCAC	0.408																																						ENST00000356056.5																			0				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						c.(6244-6246)cTc>cAc		myosin IXA							150	136	141					15																	72146819		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.chr15:72146819A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6245T>A	15.37:g.72146819A>T	ENSP00000348349:p.Leu2082His					MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H	p.L2082H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			35	6717	-			2082			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6245T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993873	0.93167	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.21543	2.0;2.0;2.0	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.53997	0.1831	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.65212	-0.6223	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2082	B2RTY4	MYO9A_HUMAN	H	2082;2153;2063	ENSP00000348349:L2082H;ENSP00000399162:L2153H;ENSP00000398250:L2063H	ENSP00000348349:L2082H	L	-	2	0	MYO9A	69933873	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	CTC		0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		115	496	0	0	0	1	0	115	496					T	72146819	A	T	72146819	3	4	79	1	0	0	0	0	1	0	0	0	10125	304	11	5	1433	5	MYO9A	15	72146819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	72146819	30384573	15519	25836											
MYO9A	4649	broad.mit.edu	37	chr15	72176078	72176078	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcttagctctctgaggtCtgtttaaagaaataaaggta	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						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)			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						TCTCTGAGGTCTGTTTAAAGA	0.368																																						ENST00000356056.5																			0				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						c.e28-1		myosin IXA							124	123	124					15																	72176078		2199	4297	6496	SO:0001630	splice_region_variant	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.chr15:72176078C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5256-1G>A	15.37:g.72176078C>T						MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site		NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			28	5728	-								B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Splice_Site	SNP	ENST00000356056.5	37		CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859482	0.71834	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	Intron	51	237	0	0	0	1	0	51	237					T	72176078	C	T	72176078	5	4	79	1	0	0	0	0	0	0	1	0	10125	927	32	2	2451	2	MYO9A	15	72176078	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29259	72176078	30355314	15520	25837											
MYO9A	4649	broad.mit.edu	37	chr15	72191130	72191130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccactctggctttgGgctctctcctgctgcttgtt	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000356056.5	-	25	4186	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1238	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)			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						TCTGGCTTTGGGCTCTCTCCT	0.473																																						ENST00000356056.5																			0				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						c.(3712-3714)gcC>gcT		myosin IXA							163	157	159					15																	72191130		2199	4297	6496	SO:0001819	synonymous_variant	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.chr15:72191130G>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.3714C>T	15.37:g.72191130G>A						MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000424560.1_Silent_p.A1238A	p.A1238A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4186	-			1238			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.3714C>T	CCDS10239.1																																																																																				0.473	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		156	710	0	0	0	1	0	156	710					A	72191130	G	A	72191130	2	1	79	1	0	0	0	0	0	0	0	1	10125	1219	43	2		2	MYO9A	15	72191130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15052	72191130	30340262	15521	25838											
MYO9A	4649	broad.mit.edu	37	chr15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctctacatgttgattGcaaaaggataatttttttcc	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000356056.5	-	24	3908	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1146	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			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						CATGTTGATTGCAAAAGGATA	0.368																																						ENST00000356056.5																			0				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						c.(3436-3438)Caa>Taa		myosin IXA							80	77	78					15																	72192062		2199	4297	6496	SO:0001587	stop_gained	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.chr15:72192062G>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.3436C>T	15.37:g.72192062G>A	ENSP00000348349:p.Gln1146*					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*	p.Q1146*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			24	3908	-			1146			IQ 5.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.3436C>T	CCDS10239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.782160|12.782160	0.99696|0.99696	.|.	.|.	ENSG00000066933|ENSG00000066933	ENST00000261864|ENST00000356056;ENST00000424560;ENST00000444904	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|.	0.81814|.	0.4902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82153|.	-0.0598|.	4|.	0.10636|0.56958	T|D	0.68|0.05	.|.	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1126|1146;1146;1127	.|.	ENSP00000261864:A1126V|ENSP00000348349:Q1146X	A|Q	-|-	2|1	0|0	MYO9A|MYO9A	69979116|69979116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.263000|8.263000	0.89864|0.89864	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		70	301	0	0	0	1	0	70	301					A	72192062	G	A	72192062	4	1	79	1	0	0	0	0	0	1	0	0	10125	1328	46	2	4286	2	MYO9A	15	72192062	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	72192062	30339330	15522	25839											
MYO9A	4649	broad.mit.edu	37	chr15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagacttggtaatgcgatCttgtagtgtcagtcttgtca	11	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000356056.5	-	19	3086	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	872	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)			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						GTAATGCGATCTTGTAGTGTC	0.338																																						ENST00000356056.5																			0				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						c.(2614-2616)Gat>Aat		myosin IXA							97	101	100					15																	72208782		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.chr15:72208782C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2614G>A	15.37:g.72208782C>T	ENSP00000348349:p.Asp872Asn					MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N	p.D872N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			19	3086	-			872					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2614G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408315	0.96051	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71698	-0.59;-0.59;-0.59	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77157	0.4089	L	0.35414	1.06	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.943	D;P;P	0.91635	0.999;0.781;0.896	T	0.73736	-0.3889	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	853;853;872	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	872;872;853;853	ENSP00000348349:D872N;ENSP00000399162:D872N;ENSP00000398250:D853N	ENSP00000261864:D853N	D	-	1	0	MYO9A	69995836	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.240000	0.78192	2.709000	0.92574	0.655000	0.94253	GAT		0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		67	237	0	0	0	1	0	67	237					T	72208782	C	T	72208782	3	4	79	1	0	0	0	0	1	0	0	0	10125	913	32	2	5128	2	MYO9A	15	72208782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16720	72208782	30322610	15523	25840											
MYO9A	4649	broad.mit.edu	37	chr15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaagtgcatgattaattCgaaaaactatccagtcaaac	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000356056.5	-	10	2010	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	513	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)			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						ATGATTAATTCGAAAAACTAT	0.338																																						ENST00000356056.5																			0				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						c.(1537-1539)cGa>cAa		myosin IXA							111	112	112					15																	72286859		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.chr15:72286859C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1538G>A	15.37:g.72286859C>T	ENSP00000348349:p.Arg513Gln					RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q	p.R513Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			10	2010	-			513			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1538G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974210	0.92919	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	D	0.90721	0.7088	L	0.33792	1.035	0.80722	D	1	D;P;D;P	0.71674	0.998;0.867;0.961;0.886	D;B;P;P	0.70716	0.97;0.23;0.688;0.564	D	0.88017	0.2766	9	0.19147	T	0.46	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	494;513;494;513	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	Q	513;513;494;494;513	ENSP00000348349:R513Q;ENSP00000399162:R513Q;ENSP00000398250:R494Q	ENSP00000261864:R494Q	R	-	2	0	MYO9A	70073913	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.275000	0.78548	2.385000	0.81259	0.557000	0.71058	CGA		0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		105	446	0	0	0	1	0	105	446					T	72286859	C	T	72286859	3	4	79	1	0	0	0	0	1	0	0	0	10125	884	31	1	6240	1	MYO9A	15	72286859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78077	72286859	30244533	15524	25841											
MYO9A	4649	broad.mit.edu	37	chr15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaataactattagaataCtgccaacataggtataaatt	6	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000356056.5	-	2	1014	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	181	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)			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						TATTAGAATACTGCCAACATA	0.323																																						ENST00000356056.5																			0				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						c.(541-543)aGt>aTt		myosin IXA							65	70	68					15																	72338363		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.chr15:72338363C>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.542G>T	15.37:g.72338363C>A	ENSP00000348349:p.Ser181Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I	p.S181I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1014	-			181			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.542G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.662272	0.67700	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87179	-2.22;-2.22;-2.22	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.90696	0.7081	L	0.43598	1.365	0.58432	D	0.999995	P;D;D	0.63046	0.948;0.975;0.992	P;P;D	0.70487	0.759;0.861;0.969	D	0.91177	0.4973	9	0.87932	D	0	.	15.587	0.76491	0.0:0.863:0.137:0.0	.	181;181;181	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	181	ENSP00000348349:S181I;ENSP00000399162:S181I;ENSP00000398250:S181I	ENSP00000261864:S181I	S	-	2	0	MYO9A	70125417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.749000	0.94314	0.650000	0.86243	AGT		0.323	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		78	294	1	0	1.15098e-32	1	1.36004e-32	78	294					A	72338363	C	A	72338363	3	1	79	1	0	0	0	0	1	0	0	0	10125	565	20	3	7268	3	MYO9A	15	72338363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51504	72338363	30193029	15525	25842											
SENP8	123228	broad.mit.edu	37	chr15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcttttttcattatgattCccatagcaggagcaactcag	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000542035.2	+	2	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	120	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433																																						ENST00000544411.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(358-360)tCc>tTc		SUMO/sentrin specific peptidase family member 8							58	62	61					15																	72432323		2199	4297	6496	SO:0001583	missense	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432323C>T	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.359C>T	15.37:g.72432323C>T	ENSP00000446057:p.Ser120Phe					SENP8_ENST00000542035.2_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	p.S120F	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN			3	846	+			120			Protease.		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	c.359C>T	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892924	0.91889	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-17.7189	19.8681	0.96839	0.0:1.0:0.0:0.0	.	120	Q96LD8	SENP8_HUMAN	F	120	ENSP00000446057:S120F;ENSP00000441753:S120F;ENSP00000340505:S120F;ENSP00000439415:S120F	ENSP00000340505:S120F	S	+	2	0	SENP8	70219377	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.764000	0.94973	0.643000	0.83706	TCC		0.433	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		68	310	0	0	0	1	0	68	310					T	72432323	C	T	72432323	3	4	79	1	0	0	0	0	1	0	0	0	14102	855	30	2	361	2	SENP8	15	72432323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93960	72432323	30099069	15526	25843											
SENP8	123228	broad.mit.edu	37	chr15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaggggagaatggaaagatCtcattaccacacttgctaaa	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000542035.2	+	2	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	205							cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448																																						ENST00000544411.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(613-615)Ctc>Atc		SUMO/sentrin specific peptidase family member 8							64	59	61					15																	72432577		2199	4297	6496	SO:0001583	missense	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432577C>A	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.613C>A	15.37:g.72432577C>A	ENSP00000446057:p.Leu205Ile					SENP8_ENST00000542035.2_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	p.L205I	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN			3	1100	+			205					Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	c.613C>A	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056735	0.36277	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.84	0.62591	.	0.069030	0.64402	D	0.000014	T	0.48786	0.1519	L	0.48877	1.53	0.80722	D	1	B	0.28026	0.198	B	0.41917	0.37	T	0.34428	-0.9829	10	0.20519	T	0.43	-13.4616	13.5248	0.61589	0.0:0.9264:0.0:0.0736	.	205	Q96LD8	SENP8_HUMAN	I	205	ENSP00000446057:L205I;ENSP00000441753:L205I;ENSP00000340505:L205I;ENSP00000439415:L205I	ENSP00000340505:L205I	L	+	1	0	SENP8	70219631	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.575000	0.53870	2.730000	0.93505	0.591000	0.81541	CTC		0.448	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		30	217	1	0	3.1745e-13	1	3.424e-13	30	217					A	72432577	C	A	72432577	3	1	79	1	0	0	0	0	1	0	0	0	14102	913	32	3	615	3	SENP8	15	72432577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254	72432577	30098815	15527	25844											
GRAMD2	196996	broad.mit.edu	37	chr15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctcagctccccagtgCtcctgggctcctcctccagc	9	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	301						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCCCAGTGCTCCTGGGCTC	0.577																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(901-903)aGc>aAc		GRAM domain containing 2							73	75	74					15																	72455661		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455661C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.902G>A	15.37:g.72455661C>T	ENSP00000311657:p.Ser301Asn					GRAMD2_ENST00000564184.1_5'UTR	p.S301N	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	915	-			301					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.902G>A	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637417	0.14386	.	.	ENSG00000175318	ENST00000309731	T	0.32272	1.46	5.46	2.45	0.29901	.	0.839871	0.11079	N	0.602061	T	0.25082	0.0609	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30001	-0.9993	10	0.20519	T	0.43	.	8.5009	0.33156	0.0:0.6177:0.3011:0.0812	.	301	Q8IUY3	GRAM2_HUMAN	N	301	ENSP00000311657:S301N	ENSP00000311657:S301N	S	-	2	0	GRAMD2	70242715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	0.235000	0.21160	0.655000	0.94253	AGC		0.577	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		41	395	0	0	0	1	0	41	395					T	72455661	C	T	72455661	3	4	79	1	0	0	0	0	1	0	0	0	6780	797	28	2	174	2	GRAMD2	15	72455661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23084	72455661	30075731	15528	25845											
PKM2	5315	broad.mit.edu	37	chr15	72501087	72501087	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgacgcaaacaccatatcAacatcctgctcgaccccaaa	4	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72501087A>G	ENST00000335181.5	-	6	814	c.711T>C	c.(709-711)gtT>gtC	p.V237V	PKM_ENST00000568459.1_Silent_p.V237V|PKM_ENST00000389093.3_Silent_p.V237V|PKM_ENST00000449901.2_Silent_p.V222V|PKM_ENST00000565154.1_Silent_p.V237V|PKM_ENST00000319622.6_Silent_p.V237V|PKM_ENST00000565184.1_Silent_p.V237V|PKM_ENST00000568883.1_Silent_p.V72V	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	237					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	ACACCATATCAACATCCTGCT	0.502																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(709-711)gtT>gtC		pyruvate kinase, muscle							183	163	170					15																	72501087		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72501087A>G	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.711T>C	15.37:g.72501087A>G						PKM_ENST00000449901.2_Silent_p.V222V|PKM_ENST00000568883.1_Silent_p.V72V|PKM_ENST00000568459.1_Silent_p.V237V|PKM_ENST00000565154.1_Silent_p.V237V|PKM_ENST00000565184.1_Silent_p.V237V|PKM_ENST00000335181.5_Silent_p.V237V|PKM_ENST00000389093.3_Silent_p.V237V	p.V237V	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1167	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.711T>C	CCDS32284.1																																																																																				0.502	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			70	701	0	0	0	1	0	70	701					G	72501087	A	G	72501087	2	3	79	1	0	0	0	0	0	0	0	1	12019	117	5	4		4	PKM2	15	72501087	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45426	72501087	30030305	15529	25846											
PARP6	56965	broad.mit.edu	37	chr15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctcccgaatagacaTcacactatccagagctttct	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000260376.7_Missense_Mutation_p.M390L|PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	390							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1168-1170)Atg>Ctg		poly (ADP-ribose) polymerase family, member 6							107	110	109					15																	72546819		1897	4114	6011	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72546819T>G	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1168A>C	15.37:g.72546819T>G	ENSP00000456348:p.Met390Leu					PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L	p.M390L			Q2NL67	PARP6_HUMAN			15	1855	-			390					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1168A>C	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092446	0.36952	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.18863	0.0;0.031;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.29882	-0.9997	9	0.23891	T	0.37	-33.475	14.8922	0.70617	0.0:0.0:0.0:1.0	.	390;390;322	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	390;390;390;235;235	.	ENSP00000260376:M390L	M	-	1	0	PARP6	70333873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.107000	0.64212	0.460000	0.39030	ATG		0.443	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		27	186	0	0	0	1	0	27	186					G	72546819	T	G	72546819	3	3	79	1	0	0	0	0	1	0	0	0	11506	1435	50	4	764	4	PARP6	15	72546819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45732	72546819	29984573	15530	25847											
PARP6	56965	broad.mit.edu	37	chr15	72551961	72551961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattacctgaacgaggaaTccatactccagagtgggaat	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000260376.7_Silent_p.G266G|PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(796-798)ggA>ggG		poly (ADP-ribose) polymerase family, member 6							295	289	291					15																	72551961		1921	4136	6057	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72551961T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.798A>G	15.37:g.72551961T>C						PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Silent_p.G266G	p.G266G			Q2NL67	PARP6_HUMAN			11	1485	-			266					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.798A>G	CCDS10241.2																																																																																				0.493	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		250	1050	0	0	0	1	0	250	1050					C	72551961	T	C	72551961	2	2	79	1	0	0	0	0	0	0	0	1	11506	1422	50	4		4	PARP6	15	72551961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5142	72551961	29979431	15531	25848											
PARP6	56965	broad.mit.edu	37	chr15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtactagccccacttacatCgaggaagctgatgttgatgt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000260376.7_Missense_Mutation_p.D79N|PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	79							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(235-237)Gat>Aat		poly (ADP-ribose) polymerase family, member 6							133	129	130					15																	72557756		1995	4169	6164	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72557756C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.235G>A	15.37:g.72557756C>T	ENSP00000456348:p.Asp79Asn					PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N	p.D79N			Q2NL67	PARP6_HUMAN			6	922	-			79					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.235G>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	36	5.649327	0.96714	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.66716	-0.5853	9	0.39692	T	0.17	-15.8467	18.1292	0.89596	0.0:1.0:0.0:0.0	.	79;79	Q0VDG0;Q2NL67	.;PARP6_HUMAN	N	79	.	ENSP00000260376:D79N	D	-	1	0	PARP6	70344810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.533000	0.85409	0.563000	0.77884	GAT		0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		27	258	0	0	0	1	0	27	258					T	72557756	C	T	72557756	3	4	79	1	0	0	0	0	1	0	0	0	11506	884	31	1	1733	1	PARP6	15	72557756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5795	72557756	29973636	15532	25849											
CELF6	60677	broad.mit.edu	37	chr15	72582592	72582592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccacaaacagctttcgGtcctctggggacaaagccag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000569547.1	-	4	470	c.399C>T	c.(397-399)gaC>gaT	p.D133D	CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000543764.2_Silent_p.D18D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.D20D|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	133					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(397-399)gaC>gaT		CUGBP, Elav-like family member 6							46	39	42					15																	72582592		2199	4297	6496	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582592G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.399C>T	15.37:g.72582592G>A						CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000543764.2_Silent_p.D18D|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	p.D133D	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			4	653	-			133					B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.399C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138296	0.37728	.	.	ENSG00000140488	ENST00000379915	.	.	.	5.41	2.5	0.30297	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57015	-0.7883	5	0.45353	T	0.12	-17.7166	8.2792	0.31889	0.2471:0.0:0.7529:0.0	.	.	.	.	I	11	.	ENSP00000369247:T11I	T	-	2	0	CELF6	70369646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	0.660000	0.30964	0.561000	0.74099	ACC		0.602	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		17	97	0	0	0	1	0	17	97					A	72582592	G	A	72582592	2	1	79	1	0	0	0	0	0	0	0	1	3229	1252	44	2		2	CELF6	15	72582592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24836	72582592	29948800	15533	25850											
CELF6	60677	broad.mit.edu	37	chr15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggacttacccctgGcagggtcttctgctcgtgca	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000569547.1	-	2	411	c.340C>T	c.(340-342)Cca>Tca	p.P114S	CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000287202.5_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	114	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(340-342)Cca>Tca		CUGBP, Elav-like family member 6							38	35	36					15																	72608191		2199	4297	6496	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608191G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.340C>T	15.37:g.72608191G>A	ENSP00000454749:p.Pro114Ser					CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	p.P114S	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			2	594	-			114			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	c.340C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744052	0.89663	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.15718	2.4	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000506	T	0.37461	0.1004	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.01702	-1.1292	10	0.66056	D	0.02	-4.7191	18.957	0.92662	0.0:0.0:1.0:0.0	.	114;114	B4DJB6;Q96J87	.;CELF6_HUMAN	S	114	ENSP00000287202:P114S	ENSP00000287202:P114S	P	-	1	0	CELF6	70395245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	CCA		0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		15	48	0	0	0	1	0	15	48					A	72608191	G	A	72608191	3	1	79	1	0	0	0	0	1	0	0	0	3229	1203	42	2	1149	2	CELF6	15	72608191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25599	72608191	29923201	15534	25851											
TMEM202	338949	broad.mit.edu	37	chr15	72691241	72691241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggagccacacacccaAgccaccctgtgagtgccacc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72691241A>C	ENST00000341689.3	+	2	383	c.329A>C	c.(328-330)aAg>aCg	p.K110T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	110						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACACACCCAAGCCACCCTGT	0.517																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(328-330)aAg>aCg		transmembrane protein 202							91	86	87					15																	72691241		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72691241A>C		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.329A>C	15.37:g.72691241A>C	ENSP00000340212:p.Lys110Thr					TMEM202_ENST00000567679.1_Intron	p.K110T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			2	383	+			110						Missense_Mutation	SNP	ENST00000341689.3	37	c.329A>C	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775452	0.31411	.	.	ENSG00000187806	ENST00000341689	T	0.44881	0.91	3.72	2.55	0.30701	.	0.279921	0.25552	N	0.029897	T	0.48892	0.1525	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39461	-0.9613	10	0.42905	T	0.14	-14.1691	6.0233	0.19640	0.878:0.0:0.122:0.0	.	110	A6NGA9	TM202_HUMAN	T	110	ENSP00000340212:K110T	ENSP00000340212:K110T	K	+	2	0	TMEM202	70478295	0.001000	0.12720	0.998000	0.56505	0.263000	0.26337	0.464000	0.21988	0.583000	0.29574	0.533000	0.62120	AAG		0.517	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		15	468	0	0	0	1	0	15	468					C	72691241	A	C	72691241	3	2	79	1	0	0	0	0	1	0	0	0	16179	72	3	4	335	4	TMEM202	15	72691241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83050	72691241	29840151	15535	25852											
ARIH1	25820	broad.mit.edu	37	chr15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatttaataacaaataGctttgtagaggtaagtgatt	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	265					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(793-795)aGc>aTc		ariadne RBR E3 ubiquitin protein ligase 1							38	41	40					15																	72853880		2195	4290	6485	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72853880G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.794G>T	15.37:g.72853880G>T	ENSP00000369217:p.Ser265Ile						p.S265I	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			6	1108	+			265					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.794G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937987	0.92526	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.92459	0.5976	10	0.87932	D	0	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	265	Q9Y4X5	ARI1_HUMAN	I	265;235	ENSP00000369217:S265I	ENSP00000299305:S235I	S	+	2	0	ARIH1	70640934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.419000	0.97397	2.765000	0.95021	0.650000	0.86243	AGC		0.259	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		24	125	1	0	1.55469e-16	1	1.70887e-16	24	125					T	72853880	G	T	72853880	3	4	79	1	0	0	0	0	1	0	0	0	923	971	34	3	816	3	ARIH1	15	72853880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162639	72853880	29677512	15536	25853											
ARIH1	25820	broad.mit.edu	37	chr15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgaagggttttgttacaGcatgtgcatgaaggctatga	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	541					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(1621-1623)caG>caT		ariadne RBR E3 ubiquitin protein ligase 1							123	117	119					15																	72875582		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72875582G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1623G>T	15.37:g.72875582G>T	ENSP00000369217:p.Gln541His					ARIH1_ENST00000562891.1_3'UTR	p.Q541H	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			14	1937	+			541					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1623G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713107	0.48517	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86562	-2.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.31926	0.97	0.80722	D	1	P	0.39424	0.673	B	0.40982	0.345	D	0.84533	0.0634	10	0.62326	D	0.03	.	14.8637	0.70399	0.0:0.0:0.8565:0.1435	.	541	Q9Y4X5	ARI1_HUMAN	H	541;511	ENSP00000369217:Q541H	ENSP00000299305:Q511H	Q	+	3	2	ARIH1	70662636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.242000	0.72376	2.763000	0.94921	0.650000	0.86243	CAG		0.373	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		81	405	1	0	3.98749e-38	1	4.80009e-38	81	405					T	72875582	G	T	72875582	3	4	79	1	0	0	0	0	1	0	0	0	923	962	34	3	1677	3	ARIH1	15	72875582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21702	72875582	29655810	15537	25854											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccaccggcggttacagcaGaccataaaggagcgggcgct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	203						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(607-609)caG>caT		golgin A6 family, member B							62	81	74					15																	72953649		1481	2647	4128	SO:0001583	missense	55889							g.chr15:72953649G>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.609G>T	15.37:g.72953649G>T	ENSP00000408132:p.Gln203His						p.Q203H	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			8	609	+			203					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.609G>T	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	9.908	1.208805	0.22205	.	.	ENSG00000215186	ENST00000421285	T	0.22945	1.93	0.39	0.39	0.16275	.	.	.	.	.	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	1	D	0.54397	0.966	P	0.61592	0.891	T	0.12656	-1.0539	9	0.49607	T	0.09	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	203	A6NDN3	GOG6B_HUMAN	H	203	ENSP00000408132:Q203H	ENSP00000408132:Q203H	Q	+	3	2	GOLGA6B	70740703	0.805000	0.28982	0.008000	0.14137	0.007000	0.05969	2.996000	0.49449	0.472000	0.27344	0.134000	0.15878	CAG		0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		56	1107	1	0	5.04308e-16	1	5.52873e-16	56	1107					T	72953649	G	T	72953649	3	4	79	1	0	0	0	0	1	0	0	0	6587	933	33	3	639	3	GOLGA6B	15	72953649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78067	72953649	29577743	15538	25855											
BBS4	585	broad.mit.edu	37	chr15	72987519	72987519	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacttatttcatttcagaGaactcaatttcctgtatcta	3	9	4	1	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.e2-1		Bardet-Biedl syndrome 4							75	78	77					15																	72987519		2198	4296	6494	SO:0001630	splice_region_variant	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:72987519G>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.25-1G>T	15.37:g.72987519G>T						BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Splice_Site_p.R17_splice	p.R9_splice	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			2	67	+			9			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Splice_Site	SNP	ENST00000268057.4	37	c.24_splice	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395838	0.25205	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.71461	-0.55;-0.57	3.33	-0.121	0.13535	.	0.793638	0.11520	N	0.555855	T	0.46852	0.1414	N	0.11427	0.14	0.80722	D	1	P;B	0.35656	0.514;0.001	B;B	0.35688	0.208;0.002	T	0.22941	-1.0202	10	0.44086	T	0.13	-1.6484	5.3806	0.16189	0.5246:0.0:0.4754:0.0	.	17;9	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	9;17	ENSP00000268057:R9I;ENSP00000378631:R17I	ENSP00000268057:R9I	R	+	2	0	BBS4	70774572	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.039000	0.13884	-0.015000	0.14150	0.591000	0.81541	AGA		0.353	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	Missense_Mutation	45	215	1	0	1.02687e-29	1	1.20094e-29	45	215					T	72987519	G	T	72987519	5	4	79	1	0	0	0	0	0	0	1	0	1340	956	33	3	32	3	BBS4	15	72987519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33870	72987519	29543873	15539	25856											
BBS4	585	broad.mit.edu	37	chr15	73029167	73029167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcactggtctggaccaAaccagttaaagatcccaaat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73029167A>G	ENST00000268057.4	+	15	1354	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	438	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTCTGGACCAAACCAGTTAAA	0.507									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1312-1314)aAa>aGa		Bardet-Biedl syndrome 4							131	122	125					15																	73029167		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029167A>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1313A>G	15.37:g.73029167A>G	ENSP00000268057:p.Lys438Arg					BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	p.K438R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			15	1354	+			438			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1313A>G	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582989	0.65992	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.43152	1.355	0.54753	D	0.999987	B;B;B	0.21753	0.06;0.06;0.035	B;B;B	0.21917	0.037;0.037;0.016	T	0.78645	-0.2123	10	0.33141	T	0.24	-7.3833	14.7172	0.69277	1.0:0.0:0.0:0.0	.	426;446;438	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	R	266;438;426;446	ENSP00000445964:K266R;ENSP00000268057:K438R;ENSP00000442492:K426R;ENSP00000378631:K446R	ENSP00000268057:K438R	K	+	2	0	BBS4	70816220	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	6.216000	0.72212	2.219000	0.72066	0.533000	0.62120	AAA		0.507	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		13	622	0	0	0	1	0	13	622					G	73029167	A	G	73029167	3	3	79	1	0	0	0	0	1	0	0	0	1340	14	1	4	1371	4	BBS4	15	73029167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41648	73029167	29502225	15540	25857											
ADPGK	83440	broad.mit.edu	37	chr15	73045191	73045191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgggtgagaaataacaGctcctgttcattcagcccaa	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.L54L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	329	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(982-984)Ctg>Ttg		ADP-dependent glucokinase							54	53	54					15																	73045191		1957	4147	6104	SO:0001819	synonymous_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045191G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.982C>T	15.37:g.73045191G>A						ADPGK_ENST00000456471.2_Silent_p.L54L	p.L328L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1075	-			329			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	37	c.982C>T	CCDS42057.1																																																																																				0.493	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		63	225	0	0	0	1	0	63	225					A	73045191	G	A	73045191	2	1	79	1	0	0	0	0	0	0	0	1	330	962	34	2		2	ADPGK	15	73045191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16024	73045191	29486201	15541	25858											
NEO1	4756	broad.mit.edu	37	chr15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggccactgttgagagtcttgGaactattatcagtagaacag	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000560262.1_Missense_Mutation_p.G137V|NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1	137	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAGAGTCTTGGAACTATTATC	0.343																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(409-411)gGa>gTa		neogenin 1							97	97	97					15																	73409160		2198	4296	6494	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73409160G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.410G>T	15.37:g.73409160G>T	ENSP00000341198:p.Gly137Val					NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V	p.G137V			Q92859	NEO1_HUMAN			3	857	+			137			Ig-like C2-type 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.410G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675237	0.88445	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	H	0.95294	3.65	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	0.87943	0.2718	10	0.72032	D	0.01	-16.9501	20.33	0.98713	0.0:0.0:1.0:0.0	.	137;137;137	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	137	ENSP00000341198:G137V;ENSP00000261908:G137V	ENSP00000261908:G137V	G	+	2	0	NEO1	71196213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GGA		0.343	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		95	423	1	0	1.19196e-48	1	1.47188e-48	95	423					T	73409160	G	T	73409160	3	4	79	1	0	0	0	0	1	0	0	0	10378	1174	41	3	416	3	NEO1	15	73409160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363969	73409160	29122232	15542	25859											
NEO1	4756	broad.mit.edu	37	chr15	73541462	73541462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcctacctccatcacTgttacgtgggaaacaccagt	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73541462T>C	ENST00000339362.5	+	11	2115	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T			Q92859	NEO1_HUMAN	neogenin 1	556	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCTCCATCACTGTTACGTGGG	0.428																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1666-1668)acT>acC		neogenin 1							116	112	113					15																	73541462		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541462T>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1668T>C	15.37:g.73541462T>C						NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000560352.1_3'UTR	p.T556T			Q92859	NEO1_HUMAN			11	2115	+			556			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.1668T>C	CCDS10247.1																																																																																				0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		12	538	0	0	0	1	0	12	538					C	73541462	T	C	73541462	2	2	79	1	0	0	0	0	0	0	0	1	10378	1567	55	4		4	NEO1	15	73541462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132302	73541462	28989930	15543	25860											
NEO1	4756	broad.mit.edu	37	chr15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtttccacaccagAtgttgctgttcgaacattgt	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000560262.1_Missense_Mutation_p.D623G|NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1	623	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCCACACCAGATGTTGCTGTT	0.423																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1867-1869)gAt>gGt		neogenin 1							189	171	177					15																	73542036		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73542036A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1868A>G	15.37:g.73542036A>G	ENSP00000341198:p.Asp623Gly					NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G	p.D623G			Q92859	NEO1_HUMAN			12	2315	+			623			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1868A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962056	0.92791	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.63046	0.992;0.48;0.801;0.953	D;P;P;P	0.71870	0.975;0.75;0.806;0.886	T	0.64542	-0.6383	10	0.46703	T	0.11	-22.4207	15.803	0.78471	1.0:0.0:0.0:0.0	.	623;623;361;623	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	G	623;361;623	ENSP00000341198:D623G;ENSP00000261908:D623G	ENSP00000261908:D623G	D	+	2	0	NEO1	71329089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.204000	0.95041	2.198000	0.70561	0.533000	0.62120	GAT		0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		16	492	0	0	0	1	0	16	492					G	73542036	A	G	73542036	3	3	79	1	0	0	0	0	1	0	0	0	10378	333	12	4	1910	4	NEO1	15	73542036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	73542036	28989356	15544	25861											
HCN4	10021	broad.mit.edu	37	chr15	73616569	73616569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcacgctggctgtgcgCcggccccgggtcagcaggca	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	668					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGCTGTGCGCCGGCCCCGGG	0.647																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2002-2004)cgG>cgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							51	43	46					15																	73616569		2197	4297	6494	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616569C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2004G>A	15.37:g.73616569C>T							p.R668R	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	2997	-			668					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2004G>A	CCDS10248.1																																																																																				0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		68	243	0	0	0	1	0	68	243					T	73616569	C	T	73616569	2	4	79	1	0	0	0	0	0	0	0	1	7029	726	26	2		2	HCN4	15	73616569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74533	73616569	28914823	15545	25862											
HCN4	10021	broad.mit.edu	37	chr15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactggcgccgggaggagtCcagggactggatgagggcag	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	521					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGGAGTCCAGGGACTGG	0.637																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1561-1563)Gac>Aac		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							72	65	67					15																	73621943		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73621943C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1561G>A	15.37:g.73621943C>T	ENSP00000261917:p.Asp521Asn						p.D521N	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2554	-			521					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1561G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114948	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.96554	-4.05	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96787	0.8951	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95483	0.8562	9	0.21014	T	0.42	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	521	Q9Y3Q4	HCN4_HUMAN	N	521	ENSP00000261917:D521N	ENSP00000261917:D521N	D	-	1	0	HCN4	71408996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	GAC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		84	317	0	0	0	1	0	84	317					T	73621943	C	T	73621943	3	4	79	1	0	0	0	0	1	0	0	0	7029	855	30	2	2070	2	HCN4	15	73621943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5374	73621943	28909449	15546	25863											
CD276	80381	broad.mit.edu	37	chr15	73994861	73994861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgcgtgcgtgtggcGgacgagggcagcttcacctg	17	12	1	0	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000537340.2_5'UTR|CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18188	0.0		0.001	False		,,,				2504	0.0					ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(343-345)gcG>gcA		CD276 molecule		G	,	22,4374	29.0+/-57.7	0,22,2176	43	37	39		345,345	-5.6	0.7	15	dbSNP_134	39	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	CD276	NM_001024736.1,NM_025240.2	,	0,24,6469	AA,AG,GG		0.0233,0.5005,0.1848	,	115/535,115/317	73994861	24,12962	2198	4295	6493	SO:0001819	synonymous_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73994861G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.345G>A	15.37:g.73994861G>A						CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Silent_p.A115A	p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			3	647	+			115			Ig-like V-type 1.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Silent	SNP	ENST00000318443.5	37	c.345G>A	CCDS32288.1																																																																																				0.697	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		36	152	0	0	0	1	0	36	152					A	73994861	G	A	73994861	2	1	79	1	0	0	0	0	0	0	0	1	3001	1103	39	1		1	CD276	15	73994861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372918	73994861	28536531	15547	25864											
CD276	80381	broad.mit.edu	37	chr15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggccaacgagcagggcTtgtttgatgtgcacagcatc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	201	Ig-like C2-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(601-603)Ttg>Gtg		CD276 molecule							106	85	92					15																	73995295		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73995295T>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.601T>G	15.37:g.73995295T>G	ENSP00000320084:p.Leu201Val					CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000318424.5_Intron	p.L201V	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			4	903	+			201			Ig-like C2-type 1.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.601T>G	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595574	0.46318	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.80824	-1.42;-1.42	3.29	-3.87	0.04218	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89897	0.6848	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.994	D	0.89774	0.3956	9	0.87932	D	0	.	13.8295	0.63370	0.0:0.8405:0.0:0.1595	.	147;201;201	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	V	201;201;55	ENSP00000320084:L201V;ENSP00000441087:L55V	ENSP00000320084:L201V	L	+	1	2	CD276	71782348	0.053000	0.20554	0.962000	0.40283	0.127000	0.20565	0.193000	0.17116	-0.903000	0.03881	0.260000	0.18958	TTG		0.632	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		36	232	0	0	0	1	0	36	232					G	73995295	T	G	73995295	3	3	79	1	0	0	0	0	1	0	0	0	3001	1606	56	4	611	4	CD276	15	73995295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	434	73995295	28536097	15548	25865											
CD276	80381	broad.mit.edu	37	chr15	74003513	74003513	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctgacagcaaagaaggTaaagacacctgggcttgagg	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000564751.1_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.e9+2		CD276 molecule							155	131	139					15																	74003513		2198	4297	6495	SO:0001630	splice_region_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:74003513T>C	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1582+2T>C	15.37:g.74003513T>C						CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000564751.1_Splice_Site|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000318424.5_Splice_Site		NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			9	1884	+								Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Splice_Site	SNP	ENST00000318443.5	37		CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973409	0.53614	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0701	0.59057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD276	71790566	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.423000	0.59861	1.756000	0.51951	0.459000	0.35465	.		0.532	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	Intron	59	293	0	0	0	1	0	59	293					C	74003513	T	C	74003513	5	2	79	1	0	0	0	0	0	0	1	0	3001	1652	57	4	1614	4	CD276	15	74003513	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8218	74003513	28527879	15549	25866											
PML	5371	broad.mit.edu	37	chr15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctctgccgcctgcGccaggaggagccccagagcc	14	18	1	1	rs375594567		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000268058.3	+	3	1175	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000565898.1_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	360					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCGCCTGCGCCAGGAGGAG	0.677			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1078-1080)cGc>cAc		promyelocytic leukemia		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	23	26	25		1079,1079,1079,1079,1079,1079,1079,1079,1079	2.6	0.9	15		25	1,8539		0,1,4269	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	29,29,29,29,29,29,29,29,29	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	360/634,360/883,360/830,360/612,360/561,360/424,360/436,360/586,360/782	74315645	1,12907	2184	4270	6454	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315645G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1079G>A	15.37:g.74315645G>A	ENSP00000268058:p.Arg360His					PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000268058.3_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H	p.R360H			P29590	PML_HUMAN			3	1163	+			360					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1079G>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996970	0.35226	0.0	1.17E-4	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.48201	0.82	4.53	2.61	0.31194	.	0.685983	0.13244	N	0.402604	T	0.59252	0.2180	L	0.59436	1.845	0.20196	N	0.999927	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.998;0.999;0.996;0.999;1.0;0.999;0.999;0.998;0.999;0.998	D;P;D;P;P;P;D;D;P;D;P;D;P	0.68621	0.949;0.775;0.959;0.877;0.9;0.899;0.91;0.923;0.868;0.931;0.799;0.909;0.89	T	0.42965	-0.9420	10	0.62326	D	0.03	-17.2149	7.2127	0.25943	0.209:0.0:0.791:0.0	.	360;310;360;360;360;360;360;360;360;360;360;360;363	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	360	ENSP00000268058:R360H	ENSP00000268058:R360H	R	+	2	0	PML	72102698	0.369000	0.25039	0.944000	0.38274	0.040000	0.13550	1.448000	0.35112	1.136000	0.42199	-0.379000	0.06801	CGC		0.677	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		11	234	0	0	0	1	0	11	234					A	74315645	G	A	74315645	3	1	79	1	0	0	0	0	1	0	0	0	12177	1087	38	1	1089	1	PML	15	74315645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312132	74315645	28215747	15550	25867											
PML	5371	broad.mit.edu	37	chr15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgcccaacagcaacCacgtggccagtggcgccggg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000268058.3	+	6	1726	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000565898.1_Missense_Mutation_p.H496Y|PML_ENST00000395132.2_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Missense_Mutation_p.H496Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	544	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1486-1488)Cac>Tac		promyelocytic leukemia							47	47	47					15																	74325728		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74325728C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1630C>T	15.37:g.74325728C>T	ENSP00000268058:p.His544Tyr					PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000268058.3_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000395132.2_Intron|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron	p.H496Y			P29590	PML_HUMAN			5	1570	+			544					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1486C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505103	0.64410	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.47869	0.83	4.81	3.83	0.44106	.	3.797720	0.00397	N	0.000054	T	0.65502	0.2697	M	0.61703	1.905	0.31687	N	0.64232	B;P;P;P;P;D;D;B;B;D	0.62365	0.003;0.917;0.952;0.952;0.952;0.991;0.986;0.01;0.003;0.986	B;P;B;P;P;P;P;B;B;P	0.59115	0.004;0.472;0.439;0.536;0.536;0.852;0.536;0.006;0.004;0.842	T	0.53472	-0.8434	10	0.59425	D	0.04	-32.366	10.8648	0.46849	0.1874:0.8126:0.0:0.0	.	544;544;496;496;544;496;544;544;544;499	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	Y	544;544;544;544;544;496;105;544	ENSP00000268058:H544Y	ENSP00000268058:H544Y	H	+	1	0	PML	72112781	0.733000	0.28132	0.918000	0.36340	0.060000	0.15804	1.853000	0.39358	2.386000	0.81285	0.549000	0.68633	CAC		0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		56	325	0	0	0	1	0	56	325					T	74325728	C	T	74325728	3	4	79	1	0	0	0	0	1	0	0	0	12177	594	21	2	1652	2	PML	15	74325728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10083	74325728	28205664	15551	25868											
ISLR2	57611	broad.mit.edu	37	chr15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgacgcttagtctgtccGcgaacaagatcactgtgctg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(178-180)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							72	60	64					15																	74425273		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425273G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.178G>A	15.37:g.74425273G>A	ENSP00000355402:p.Ala60Thr					ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron	p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	947	+			60					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.178G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	ISLR2	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		108	416	0	0	0	1	0	108	416					A	74425273	G	A	74425273	3	1	79	1	0	0	0	0	1	0	0	0	7889	1087	38	1	180	1	ISLR2	15	74425273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99545	74425273	28106119	15552	25869											
ISLR	3671	broad.mit.edu	37	chr15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcacacaatgagatcCgcacggtggccgccggagcc	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R87C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	87					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(259-261)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat							37	39	38					15																	74467458		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467458C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.259C>T	15.37:g.74467458C>T	ENSP00000249842:p.Arg87Cys					ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	p.R87C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	616	+			87						Missense_Mutation	SNP	ENST00000249842.3	37	c.259C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098976	0.37048	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.05	0.35203	.	0.269415	0.25622	U	0.029420	T	0.50514	0.1620	L	0.38692	1.165	0.29700	N	0.840249	D	0.76494	0.999	P	0.60541	0.876	T	0.50668	-0.8801	10	0.54805	T	0.06	.	2.1307	0.03749	0.2833:0.3843:0.2311:0.1013	.	87	O14498	ISLR_HUMAN	C	87	ENSP00000249842:R87C;ENSP00000378550:R87C	ENSP00000249842:R87C	R	+	1	0	ISLR	72254511	0.872000	0.30054	0.960000	0.40013	0.520000	0.34377	1.133000	0.31430	1.822000	0.53115	0.313000	0.20887	CGC		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		62	288	0	0	0	1	0	62	288					T	74467458	C	T	74467458	3	4	79	1	0	0	0	0	1	0	0	0	7888	652	23	1	261	1	ISLR	15	74467458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42185	74467458	28063934	15553	25870											
ISLR	3671	broad.mit.edu	37	chr15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatcgtgtggctcaagaCatgggccctgaccacggccg	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T193I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	193	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(577-579)aCa>aTa		immunoglobulin superfamily containing leucine-rich repeat							56	47	50					15																	74467777		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467777C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.578C>T	15.37:g.74467777C>T	ENSP00000249842:p.Thr193Ile					ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	p.T193I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	935	+			193			LRRCT.			Missense_Mutation	SNP	ENST00000249842.3	37	c.578C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168026	0.06461	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52983	0.64;0.64	4.05	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	1.087340	0.07255	U	0.866544	T	0.37183	0.0994	L	0.49350	1.555	0.09310	N	1	B	0.27625	0.183	B	0.16289	0.015	T	0.32161	-0.9917	10	0.42905	T	0.14	.	2.7872	0.05377	0.3256:0.4383:0.1303:0.1058	.	193	O14498	ISLR_HUMAN	I	193	ENSP00000249842:T193I;ENSP00000378550:T193I	ENSP00000249842:T193I	T	+	2	0	ISLR	72254830	0.469000	0.25846	0.855000	0.33649	0.120000	0.20174	1.615000	0.36922	1.822000	0.53115	0.313000	0.20887	ACA		0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		55	232	0	0	0	1	0	55	232					T	74467777	C	T	74467777	3	4	79	1	0	0	0	0	1	0	0	0	7888	478	17	2	580	2	ISLR	15	74467777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319	74467777	28063615	15554	25871											
SEMA7A	8482	broad.mit.edu	37	chr15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcccctgctcaccctgCacaactgggccacacgggac	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(796-798)tGc>tAc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							185	152	163					15																	74708920		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708920C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.797G>A	15.37:g.74708920C>T	ENSP00000261918:p.Cys266Tyr					SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	p.C266Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			7	1345	-			266			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.797G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439914	0.63067	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	D;D;D	0.90133	-2.62;-2.62;-2.62	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97514	1.0068	10	0.87932	D	0	-31.9584	16.9441	0.86226	0.0:1.0:0.0:0.0	.	252;266	F5H1S0;O75326	.;SEM7A_HUMAN	Y	266;252;101	ENSP00000261918:C266Y;ENSP00000438966:C252Y;ENSP00000441493:C101Y	ENSP00000261918:C266Y	C	-	2	0	SEMA7A	72495973	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.368000	0.59505	2.525000	0.85131	0.655000	0.94253	TGC		0.542	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		40	189	0	0	0	1	0	40	189					T	74708920	C	T	74708920	3	4	79	1	0	0	0	0	1	0	0	0	14093	710	25	2	1235	2	SEMA7A	15	74708920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241143	74708920	27822472	15555	25872											
CLK3	1198	broad.mit.edu	37	chr15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagatgcatcactgtaagcGataccgctcccctgaaccag	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	154					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACTGTAAGCGATACCGCTCC	0.602																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(460-462)cGa>cAa		CDC-like kinase 3							184	174	177					15																	74911554		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911554G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.461G>A	15.37:g.74911554G>A	ENSP00000378505:p.Arg154Gln					CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	p.R154Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	922	+			154					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.461G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924401	0.73213	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.55234	0.53;0.77	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000016	T	0.60248	0.2254	L	0.27053	0.805	0.42845	D	0.994061	D;D;D	0.89917	0.997;1.0;0.99	D;D;P	0.78314	0.968;0.991;0.776	T	0.64123	-0.6481	10	0.56958	D	0.05	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	154;154;6	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	Q	6;6;154;6;6	ENSP00000344112:R6Q;ENSP00000323106:R6Q	ENSP00000344112:R6Q	R	+	2	0	CLK3	72698607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.093000	0.64517	2.405000	0.81733	0.655000	0.94253	CGA		0.602	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			45	883	0	0	0	1	0	45	883					A	74911554	G	A	74911554	3	1	79	1	0	0	0	0	1	0	0	0	3547	1058	37	1	467	1	CLK3	15	74911554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202634	74911554	27619838	15556	25873											
CLK3	1198	broad.mit.edu	37	chr15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacatgaagggagactgCgatacccgtcccgaagggag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(547-549)Cga>Tga		CDC-like kinase 3							161	139	146					15																	74911640		2197	4296	6493	SO:0001587	stop_gained	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911640C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.547C>T	15.37:g.74911640C>T	ENSP00000378505:p.Arg183*					CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	p.R183*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	1008	+			183			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	c.547C>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929923	0.92389	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	.	.	.	4.74	4.74	0.60224	.	0.514121	0.17940	N	0.156900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.699	0.77528	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;183;35;35	.	ENSP00000344112:R35X	R	+	1	2	CLK3	72698693	0.998000	0.40836	0.979000	0.43373	0.949000	0.60115	2.819000	0.48049	2.464000	0.83262	0.655000	0.94253	CGA		0.577	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			112	585	0	0	0	1	0	112	585					T	74911640	C	T	74911640	4	4	79	1	0	0	0	0	0	1	0	0	3547	760	27	1	553	1	CLK3	15	74911640	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	74911640	27619752	15557	25874											
EDC3	80153	broad.mit.edu	37	chr15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagttgcctgatttgggtGcctgctactagatgaccctg	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(502-504)Cac>Tac		enhancer of mRNA decapping 3							75	72	73					15																	74948392		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948392G>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.502C>T	15.37:g.74948392G>A	ENSP00000320503:p.His168Tyr					EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y|EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y	p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	683	-			168					B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.502C>T	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158716	0.09236	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.44	5.44	0.79542	.	0.290119	0.38959	N	0.001513	T	0.29389	0.0732	N	0.04508	-0.205	0.36208	D	0.851152	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.27082	T	0.32	-10.107	11.6774	0.51438	0.0809:0.0:0.9191:0.0	.	168	Q96F86	EDC3_HUMAN	Y	168	.	ENSP00000320503:H168Y	H	-	1	0	EDC3	72735445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.535000	0.85469	0.655000	0.94253	CAC		0.438	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		37	377	0	0	0	1	0	37	377					A	74948392	G	A	74948392	3	1	79	1	0	0	0	0	1	0	0	0	4923	1319	46	2	1040	2	EDC3	15	74948392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36752	74948392	27583000	15558	25875											
CYP1A1	1543	broad.mit.edu	37	chr15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggttgggtaggtagcgaaGaatagggatgaagtcagctg	18	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000379727.3	-	2	916	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	240					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGGTAGCGAAGAATAGGGATG	0.473									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(718-720)Ctt>Att		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						96	93	94					15																	75014721		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014721G>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.718C>A	15.37:g.75014721G>T	ENSP00000369050:p.Leu240Ile					CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I	p.L240I			P04798	CP1A1_HUMAN			2	916	-			240					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.718C>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919052	0.73098	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.71579	-0.58;-0.58;-0.58	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.968	D;D	0.74348	0.983;0.936	D	0.87143	0.2204	10	0.56958	D	0.05	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	240;240	E7EMT5;P04798	.;CP1A1_HUMAN	I	240	ENSP00000369050:L240I;ENSP00000378488:L240I;ENSP00000378489:L240I	ENSP00000369050:L240I	L	-	1	0	CYP1A1	72801774	1.000000	0.71417	0.725000	0.30721	0.863000	0.49368	6.597000	0.74118	2.322000	0.78497	0.555000	0.69702	CTT		0.473	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		54	283	1	0	3.50607e-19	1	3.90628e-19	54	283					T	75014721	G	T	75014721	3	4	79	1	0	0	0	0	1	0	0	0	4160	942	33	3	844	3	CYP1A1	15	75014721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66329	75014721	27516671	15559	25876											
CYP1A2	1544	broad.mit.edu	37	chr15	75042451	75042451	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatggccagagcttgacCttcagcacagactctggacc	10	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	124					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	AGAGCTTGACCTTCAGCACAG	0.642																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(370-372)acC>acA		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						82	79	80					15																	75042451		2197	4295	6492	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042451C>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.372C>A	15.37:g.75042451C>A							p.T124T	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	435	+			124					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.372C>A	CCDS32293.1																																																																																				0.642	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		179	647	1	0	3.12765e-76	1	3.9905e-76	179	647					A	75042451	C	A	75042451	2	1	79	1	0	0	0	0	0	0	0	1	4161	668	24	3		3	CYP1A2	15	75042451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27730	75042451	27488941	15560	25877											
CYP1A2	1544	broad.mit.edu	37	chr15	75044494	75044494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcagggagcggcggcccCggctctctgacagaccccag	15	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044494C>T	ENST00000343932.4	+	5	1135	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	358					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GCGGCGGCCCCGGCTCTCTGA	0.592																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1072-1074)Cgg>Tgg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						74	80	78					15																	75044494		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044494C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1072C>T	15.37:g.75044494C>T	ENSP00000342007:p.Arg358Trp						p.R358W	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1135	+			358					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1072C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932500	0.34096	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.71	3.77	0.43336	.	0.397357	0.27402	N	0.019535	T	0.81870	0.4914	M	0.92507	3.315	0.36267	D	0.854938	B	0.34399	0.452	B	0.20767	0.031	D	0.86203	0.1620	10	0.72032	D	0.01	.	12.0606	0.53561	0.3132:0.6867:0.0:0.0	.	358	P05177-2	.	W	358	ENSP00000342007:R358W	ENSP00000342007:R358W	R	+	1	2	CYP1A2	72831547	0.000000	0.05858	0.983000	0.44433	0.560000	0.35617	-0.541000	0.06099	1.156000	0.42514	0.450000	0.29827	CGG		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		113	612	0	0	0	1	0	113	612					T	75044494	C	T	75044494	3	4	79	1	0	0	0	0	1	0	0	0	4161	643	23	1	1086	1	CYP1A2	15	75044494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2043	75044494	27486898	15561	25878											
CYP1A2	1544	broad.mit.edu	37	chr15	75044545	75044545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccttcatcctggagAccttccgacactcctccttc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044545A>G	ENST00000343932.4	+	5	1186	c.1123A>G	c.(1123-1125)Acc>Gcc	p.T375A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	375					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CATCCTGGAGACCTTCCGACA	0.592																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1123-1125)Acc>Gcc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						160	158	159					15																	75044545		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044545A>G	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1123A>G	15.37:g.75044545A>G	ENSP00000342007:p.Thr375Ala						p.T375A	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1186	+			375					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1123A>G	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280759	0.40294	.	.	ENSG00000140505	ENST00000343932	T	0.71222	-0.55	4.89	-0.271	0.12922	.	1.610040	0.03174	N	0.171130	T	0.67599	0.2910	M	0.68593	2.085	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.46527	-0.9185	10	0.46703	T	0.11	.	5.8288	0.18568	0.4669:0.2617:0.2714:0.0	.	375	P05177-2	.	A	375	ENSP00000342007:T375A	ENSP00000342007:T375A	T	+	1	0	CYP1A2	72831598	0.048000	0.20356	0.690000	0.30148	0.986000	0.74619	0.048000	0.14078	-0.203000	0.10251	0.370000	0.22315	ACC		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		33	1071	0	0	0	1	0	33	1071					G	75044545	A	G	75044545	3	3	79	1	0	0	0	0	1	0	0	0	4161	275	10	4	1137	4	CYP1A2	15	75044545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51	75044545	27486847	15562	25879											
LMAN1L	79748	broad.mit.edu	37	chr15	75114202	75114202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccagattccatccacCccagggaggggtggccacct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	364						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1090-1092)acC>acT		lectin, mannose-binding, 1 like							75	73	74					15																	75114202		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114202C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1092C>T	15.37:g.75114202C>T						LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	p.T364T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			10	1231	+			364					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1092C>T	CCDS10270.1																																																																																				0.607	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			78	429	0	0	0	1	0	78	429					T	75114202	C	T	75114202	2	4	79	1	0	0	0	0	0	0	0	1	8870	610	22	2		2	LMAN1L	15	75114202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69657	75114202	27417190	15563	25880											
LMAN1L	79748	broad.mit.edu	37	chr15	75116790	75116790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctacctcctcattcagacTgtaggcttcttcggctacgt	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	474						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1420-1422)acT>acC		lectin, mannose-binding, 1 like							120	117	118					15																	75116790		2197	4295	6492	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116790T>C	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1422T>C	15.37:g.75116790T>C						LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA	p.T474T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			13	1561	+			474					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1422T>C	CCDS10270.1																																																																																				0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			166	745	0	0	0	1	0	166	745					C	75116790	T	C	75116790	2	2	79	1	0	0	0	0	0	0	0	1	8870	1567	55	4		4	LMAN1L	15	75116790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	75116790	27414602	15564	25881											
ULK3	25989	broad.mit.edu	37	chr15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagacgatggccttgagctCctcagcccgggacacgtact	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627																																						ENST00000440863.2																			0				breast(2)	2						c.(1027-1029)Gag>Aag		unc-51 like kinase 3							33	36	35					15																	75131059		1963	4154	6117	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75131059C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1027G>A	15.37:g.75131059C>T	ENSP00000400312:p.Glu343Lys					ULK3_ENST00000568667.1_Missense_Mutation_p.E354K|ULK3_ENST00000569437.1_Missense_Mutation_p.E343K	p.E343K	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			10	1118	-			343			MIT 1.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.1027G>A	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	ULK3	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG		0.627	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		23	77	0	0	0	1	0	23	77					T	75131059	C	T	75131059	3	4	79	1	0	0	0	0	1	0	0	0	17031	864	30	2	419	2	ULK3	15	75131059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14269	75131059	27400333	15565	25882											
ULK3	25989	broad.mit.edu	37	chr15	75133792	75133792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggagctcagtagaatgttCtgtggcttcagatccaggtg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537																																						ENST00000440863.2																			0				breast(2)	2						c.(421-423)caG>caA		unc-51 like kinase 3							116	122	120					15																	75133792		1990	4168	6158	SO:0001819	synonymous_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75133792C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.423G>A	15.37:g.75133792C>T						ULK3_ENST00000568667.1_Silent_p.Q152Q|ULK3_ENST00000569437.1_Silent_p.Q141Q	p.Q141Q	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			4	514	-			141			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Silent	SNP	ENST00000440863.2	37	c.423G>A	CCDS45305.1																																																																																				0.537	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		30	164	0	0	0	1	0	30	164					T	75133792	C	T	75133792	2	4	79	1	0	0	0	0	0	0	0	1	17031	912	32	2		2	ULK3	15	75133792	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	75133792	27397600	15566	25883											
MPI	4351	broad.mit.edu	37	chr15	75190002	75190002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttcattggggccaaTgagagtgtctcactgaagct	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_ENST00000535694.1_Silent_p.N351N|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000566377.1_3'UTR			P34949	MPI_HUMAN	mannose phosphate isomerase	401					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1201-1203)aaT>aaC		mannose phosphate isomerase							192	167	175					15																	75190002		2197	4295	6492	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75190002T>C		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1203T>C	15.37:g.75190002T>C						MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.N340N	p.N401N			P34949	MPI_HUMAN			8	1270	+			401					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.1203T>C	CCDS10272.1																																																																																				0.567	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			76	344	0	0	0	1	0	76	344					C	75190002	T	C	75190002	2	2	79	1	0	0	0	0	0	0	0	1	9770	1461	51	4		4	MPI	15	75190002	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56210	75190002	27341390	15567	25884											
SCAMP5	192683	broad.mit.edu	37	chr15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacaccctgctcctacGtctgctggtttcggcccatt	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	87					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(259-261)Gtc>Atc		secretory carrier membrane protein 5							126	125	125					15																	75309056		2135	4236	6371	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75309056G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.259G>A	15.37:g.75309056G>A	ENSP00000355387:p.Val87Ile					SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I	p.V87I	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			5	466	+			87					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.259G>A	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864774	0.91511	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18502	2.21;2.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.76071	0.987;0.6	T	0.08932	-1.0698	10	0.52906	T	0.07	-7.7649	17.294	0.87164	0.0:0.0:1.0:0.0	.	87;87	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	I	87	ENSP00000355387:V87I;ENSP00000406547:V87I	ENSP00000355387:V87I	V	+	1	0	SCAMP5	73096109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.391000	0.81399	0.561000	0.74099	GTC		0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		81	391	0	0	0	1	0	81	391					A	75309056	G	A	75309056	3	1	79	1	0	0	0	0	1	0	0	0	13924	1145	40	1	269	1	SCAMP5	15	75309056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119054	75309056	27222336	15568	25885											
SCAMP5	192683	broad.mit.edu	37	chr15	75310804	75310804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaacgaacattggctcGgcggtggtgatgctaattcc	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000562212.1_Silent_p.S155S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(439-441)tcG>tcA		secretory carrier membrane protein 5							174	163	167					15																	75310804		2031	4187	6218	SO:0001819	synonymous_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310804G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.441G>A	15.37:g.75310804G>A						SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000425597.3_Silent_p.S147S	p.S147S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			7	648	+			147					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.441G>A	CCDS45306.1																																																																																				0.582	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		158	815	0	0	0	1	0	158	815					A	75310804	G	A	75310804	2	1	79	1	0	0	0	0	0	0	0	1	13924	1103	39	1		1	SCAMP5	15	75310804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748	75310804	27220588	15569	25886											
C15orf39	56905	broad.mit.edu	37	chr15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagagcctgtgaggcCtgcacaggaagccgaagaga	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	432						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1294-1296)cCt>cAt		chromosome 15 open reading frame 39							34	39	38					15																	75499684		2197	4294	6491	SO:0001583	missense	56905							g.chr15:75499684C>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1295C>A	15.37:g.75499684C>A	ENSP00000353854:p.Pro432His					C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H	p.P432H			Q6ZRI6	CO039_HUMAN			2	1615	+			432					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1295C>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104607	0.20632	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69926	-0.44;-0.44	4.89	3.97	0.46021	.	0.193003	0.33895	N	0.004454	T	0.72550	0.3474	L	0.60455	1.87	0.37175	D	0.903238	D	0.71674	0.998	P	0.61003	0.882	T	0.77835	-0.2440	10	0.87932	D	0	-3.5373	8.1575	0.31178	0.0:0.8921:0.0:0.1079	.	432	Q6ZRI6	CO039_HUMAN	H	432	ENSP00000353854:P432H;ENSP00000378438:P432H	ENSP00000353854:P432H	P	+	2	0	C15orf39	73286737	0.005000	0.15991	0.436000	0.26797	0.255000	0.26057	0.529000	0.23019	2.280000	0.76307	0.462000	0.41574	CCT		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		66	376	1	0	1.12612e-26	1	1.29957e-26	66	376					A	75499684	C	A	75499684	3	1	79	1	0	0	0	0	1	0	0	0	1798	681	24	3	1297	3	C15orf39	15	75499684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188880	75499684	27031708	15570	25887											
C15orf39	56905	broad.mit.edu	37	chr15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactgcccccctgtgccCgggagtgccagtctcttcca	10	18	1	0	rs543541900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	481						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17621	0.0		0.0	False		,,,				2504	0.0					ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1441-1443)Cgg>Tgg		chromosome 15 open reading frame 39							45	50	48					15																	75499830		2197	4294	6491	SO:0001583	missense	56905							g.chr15:75499830C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1441C>T	15.37:g.75499830C>T	ENSP00000353854:p.Arg481Trp					C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W	p.R481W			Q6ZRI6	CO039_HUMAN			2	1761	+			481					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1441C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999260	0.35226	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.2	0.504	0.16946	.	1.000980	0.08061	N	0.998225	T	0.42630	0.1211	N	0.08118	0	0.23966	N	0.996329	D	0.60160	0.987	B	0.43783	0.431	T	0.38779	-0.9645	10	0.72032	D	0.01	-2.613	8.491	0.33100	0.4953:0.3806:0.1241:0.0	.	481	Q6ZRI6	CO039_HUMAN	W	481	ENSP00000353854:R481W;ENSP00000378438:R481W	ENSP00000353854:R481W	R	+	1	2	C15orf39	73286883	0.005000	0.15991	0.942000	0.38095	0.602000	0.36980	0.424000	0.21330	0.533000	0.28675	0.563000	0.77884	CGG		0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		40	431	0	0	0	1	0	40	431					T	75499830	C	T	75499830	3	4	79	1	0	0	0	0	1	0	0	0	1798	643	23	1	1443	1	C15orf39	15	75499830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	75499830	27031562	15571	25888											
C15orf39	56905	broad.mit.edu	37	chr15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagatctgccaggcctgAaaaagatagacacagaagca	10	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	619						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1855-1857)Aaa>Gaa		chromosome 15 open reading frame 39							54	46	49					15																	75500244		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75500244A>G	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1855A>G	15.37:g.75500244A>G	ENSP00000353854:p.Lys619Glu					C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E	p.K619E			Q6ZRI6	CO039_HUMAN			2	2175	+			619					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1855A>G	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966688	0.53507	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.81078	-1.45;-1.45	4.89	1.0	0.19881	.	0.441548	0.22792	N	0.055595	T	0.59004	0.2162	N	0.21448	0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.003;0.004	T	0.33828	-0.9853	10	0.09590	T	0.72	-0.4539	3.9376	0.09313	0.3225:0.3998:0.2777:0.0	.	181;619	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	619;619;17	ENSP00000353854:K619E;ENSP00000378438:K619E	ENSP00000353854:K619E	K	+	1	0	C15orf39	73287297	0.030000	0.19436	0.020000	0.16555	0.782000	0.44232	1.660000	0.37397	0.193000	0.20303	0.533000	0.62120	AAA		0.567	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		49	191	0	0	0	1	0	49	191					G	75500244	A	G	75500244	3	3	79	1	0	0	0	0	1	0	0	0	1798	247	9	4	1857	4	C15orf39	15	75500244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	75500244	27031148	15572	25889											
MAN2C1	4123	broad.mit.edu	37	chr15	75653521	75653521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccggttgttggccacGgtcttcagcacctagacagg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000267978.5	-	12	1372	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000565683.1_Silent_p.T442T|MAN2C1_ENST00000563539.1_5'Flank	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	442					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1324-1326)acC>acT		mannosidase, alpha, class 2C, member 1							58	57	57					15																	75653521		2197	4293	6490	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75653521G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1326C>T	15.37:g.75653521G>A						MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000267978.5_Silent_p.T442T	p.T442T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			12	1337	-			442					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.1326C>T	CCDS32298.1																																																																																				0.657	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			13	87	0	0	0	1	0	13	87					A	75653521	G	A	75653521	2	1	79	1	0	0	0	0	0	0	0	1	9259	1103	39	1		1	MAN2C1	15	75653521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153277	75653521	26877871	15573	25890											
SIN3A	25942	broad.mit.edu	37	chr15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttgtccatggtaaagGcaatgtaggcatgaatggtg	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATGGTAAAGGCAATGTAGGC	0.498																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2980-2982)gCc>gAc		SIN3 transcription regulator family member A							220	163	182					15																	75682033		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75682033G>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2981C>A	15.37:g.75682033G>T	ENSP00000378402:p.Ala994Asp					SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	p.A994D	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			16	3295	-			994						Missense_Mutation	SNP	ENST00000394947.3	37	c.2981C>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783921	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	T	0.63915	-0.6529	10	0.48119	T	0.1	-15.6064	18.4191	0.90582	0.0:0.0:1.0:0.0	.	994	Q96ST3	SIN3A_HUMAN	D	994	ENSP00000378402:A994D;ENSP00000378403:A994D;ENSP00000353622:A994D	ENSP00000353622:A994D	A	-	2	0	SIN3A	73469086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.592000	0.87571	0.650000	0.86243	GCC		0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		74	352	1	0	4.83814e-26	1	5.56701e-26	74	352					T	75682033	G	T	75682033	3	4	79	1	0	0	0	0	1	0	0	0	14375	1203	42	3	864	3	SIN3A	15	75682033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28512	75682033	26849359	15574	25891											
SIN3A	25942	broad.mit.edu	37	chr15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtagctgaatggcagggCtgtcactcttgtctcgcttt	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGGCAGGGCTGTCACTCTT	0.502																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2818-2820)aGc>aTc		SIN3 transcription regulator family member A							182	168	173					15																	75684615		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684615C>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2819G>T	15.37:g.75684615C>A	ENSP00000378402:p.Ser940Ile					SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	p.S940I	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3133	-			940						Missense_Mutation	SNP	ENST00000394947.3	37	c.2819G>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951296	0.73787	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48201	0.82;0.82;0.82	5.79	5.79	0.91817	.	0.036039	0.85682	D	0.000000	T	0.55705	0.1937	M	0.61703	1.905	0.80722	D	1	P	0.45474	0.859	P	0.46543	0.52	T	0.54675	-0.8258	10	0.45353	T	0.12	-19.3019	19.0195	0.92908	0.0:1.0:0.0:0.0	.	940	Q96ST3	SIN3A_HUMAN	I	940	ENSP00000378402:S940I;ENSP00000378403:S940I;ENSP00000353622:S940I	ENSP00000353622:S940I	S	-	2	0	SIN3A	73471668	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.715000	0.61909	2.746000	0.94184	0.655000	0.94253	AGC		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		177	649	1	0	9.20498e-97	1	1.18326e-96	177	649					A	75684615	C	A	75684615	3	1	79	1	0	0	0	0	1	0	0	0	14375	797	28	3	1030	3	SIN3A	15	75684615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2582	75684615	26846777	15575	25892											
SIN3A	25942	broad.mit.edu	37	chr15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgcccagcacttcccGttcccattctctctctcggt	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCACTTCCCGTTCCCATTCT	0.502																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2782-2784)Cgg>Tgg		SIN3 transcription regulator family member A							190	173	179					15																	75684652		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684652G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2782C>T	15.37:g.75684652G>A	ENSP00000378402:p.Arg928Trp					SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	p.R928W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3096	-			928						Missense_Mutation	SNP	ENST00000394947.3	37	c.2782C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703670	0.68501	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50001	0.76;0.76;0.76	5.6	4.68	0.58851	.	0.048289	0.85682	D	0.000000	T	0.66157	0.2761	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69847	-0.5034	10	0.87932	D	0	-13.6199	12.4793	0.55833	0.0:0.0:0.5775:0.4225	.	928	Q96ST3	SIN3A_HUMAN	W	928	ENSP00000378402:R928W;ENSP00000378403:R928W;ENSP00000353622:R928W	ENSP00000353622:R928W	R	-	1	2	SIN3A	73471705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.362000	0.46000	0.655000	0.94253	CGG		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		149	680	0	0	0	1	0	149	680					A	75684652	G	A	75684652	3	1	79	1	0	0	0	0	1	0	0	0	14375	1144	40	1	1067	1	SIN3A	15	75684652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	75684652	26846740	15576	25893											
SNX33	257364	broad.mit.edu	37	chr15	75942240	75942240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacccgtctaccggcGctacaaacactttgactggc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942240G>A	ENST00000308527.5	+	1	1994	c.797G>A	c.(796-798)cGc>cAc	p.R266H	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R266H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTCTACCGGCGCTACAAACAC	0.552																																						ENST00000308527.5																			1	Substitution - Missense(1)	p.R266H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(796-798)cGc>cAc		sorting nexin 33							147	136	140					15																	75942240		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942240G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.797G>A	15.37:g.75942240G>A	ENSP00000311427:p.Arg266His						p.R266H	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1994	+			266			PX.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.797G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448401	0.43429	.	.	ENSG00000173548	ENST00000308527	T	0.55052	0.54	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89689	0.3896	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:0.0:1.0:0.0	.	266	Q8WV41	SNX33_HUMAN	H	266	ENSP00000311427:R266H	ENSP00000311427:R266H	R	+	2	0	SNX33	73729295	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	CGC		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		19	936	0	0	0	1	0	19	936					A	75942240	G	A	75942240	3	1	79	1	0	0	0	0	1	0	0	0	14953	1087	38	1	799	1	SNX33	15	75942240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257588	75942240	26589152	15577	25894											
SNX33	257364	broad.mit.edu	37	chr15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A													aggacttgcaggacgtggaaGatcgcgtggacactttcaag					rs574554026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	376	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGACGTGGAAGATCGCGTGGA	0.592													G|||	13	0.00259585	0.0	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0133					ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1126-1128)Gat>Aat		sorting nexin 33							73	67	69					15																	75942569		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942569G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1126G>A	15.37:g.75942569G>A	ENSP00000311427:p.Asp376Asn						p.D376N	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2323	+			376			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1126G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766693	0.49574	.	.	ENSG00000173548	ENST00000308527	T	0.42131	0.98	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.052515	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999998	B;B	0.24043	0.096;0.096	B;B	0.30401	0.115;0.115	T	0.10847	-1.0612	10	0.40728	T	0.16	-20.2346	18.3366	0.90290	0.0:0.0:1.0:0.0	.	376;376	B1NM17;Q8WV41	.;SNX33_HUMAN	N	376	ENSP00000311427:D376N	ENSP00000311427:D376N	D	+	1	0	SNX33	73729624	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.867000	0.99620	2.586000	0.87340	0.561000	0.74099	GAT		0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		9	353	0	0	0	1	0	9	353					A	75942569	G	A	75942569	3	1	79	1	0	0	0	0	1	0	0	0	14953	942	33	2	1128	2	SNX33	15	75942569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	75942569	26588823	15578	25895	160	2									
SNX33	257364	broad.mit.edu	37	chr15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T													acttgcaggacgtggaagatCgcgtggacactttcaaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	377	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1129-1131)Cgc>Tgc		sorting nexin 33							73	67	69					15																	75942572		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942572C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1129C>T	15.37:g.75942572C>T	ENSP00000311427:p.Arg377Cys						p.R377C	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2326	+			377			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1129C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813202	0.32053	.	.	ENSG00000173548	ENST00000308527	T	0.50548	0.74	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.65899	-0.6056	10	0.87932	D	0	-10.5611	13.3236	0.60447	0.1579:0.8421:0.0:0.0	.	377;377	B1NM17;Q8WV41	.;SNX33_HUMAN	C	377	ENSP00000311427:R377C	ENSP00000311427:R377C	R	+	1	0	SNX33	73729627	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.002000	0.49496	2.586000	0.87340	0.561000	0.74099	CGC		0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		73	280	0	0	0	1	0	73	280					T	75942572	C	T	75942572	3	4	79	1	0	0	0	0	1	0	0	0	14953	884	31	1	1131	1	SNX33	15	75942572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	75942572	26588820	15579	25896	160	2									
SNX33	257364	broad.mit.edu	37	chr15	75949349	75949349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgcatgagtgacgagggCcgcatggtgcaggacgaggc	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	506	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1516-1518)ggC>ggT		sorting nexin 33							56	52	53					15																	75949349		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949349C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1518C>T	15.37:g.75949349C>T							p.G506G	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			2	2715	+			506			BAR.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.1518C>T	CCDS10283.1																																																																																				0.647	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		44	201	0	0	0	1	0	44	201					T	75949349	C	T	75949349	2	4	79	1	0	0	0	0	0	0	0	1	14953	726	26	2		2	SNX33	15	75949349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6777	75949349	26582043	15580	25897											
CSPG4	1464	broad.mit.edu	37	chr15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagctgcacctcgatggCggatggtaggatgtccacag	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1941	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5821-5823)Gcc>Acc		chondroitin sulfate proteoglycan 4							41	47	45					15																	75969039		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75969039C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5821G>A	15.37:g.75969039C>T	ENSP00000312506:p.Ala1941Thr					CTD-2026K11.1_ENST00000569467.1_RNA	p.A1941T	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5913	-			1941			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5821G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.434673	0.01108	.	.	ENSG00000173546	ENST00000308508	T	0.15372	2.43	5.04	-5.44	0.02624	.	0.966971	0.08531	N	0.932103	T	0.06371	0.0164	N	0.12961	0.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39800	-0.9596	10	0.18710	T	0.47	.	1.8144	0.03097	0.1936:0.3577:0.0923:0.3563	.	1941	Q6UVK1	CSPG4_HUMAN	T	1941	ENSP00000312506:A1941T	ENSP00000312506:A1941T	A	-	1	0	CSPG4	73756094	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-1.125000	0.03257	-0.697000	0.05092	-0.228000	0.12330	GCC		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		76	346	0	0	0	1	0	76	346					T	75969039	C	T	75969039	3	4	79	1	0	0	0	0	1	0	0	0	3971	768	27	1	1151	1	CSPG4	15	75969039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19690	75969039	26562353	15581	25898											
CSPG4	1464	broad.mit.edu	37	chr15	75975290	75975290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcccgttgctgggctgCtcgatggtgtagaccagatc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4540-4542)gaG>gaA		chondroitin sulfate proteoglycan 4							19	20	20					15																	75975290		2190	4289	6479	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75975290C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4542G>A	15.37:g.75975290C>T							p.E1514E	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			6	4634	-			1514			Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4542G>A	CCDS10284.1																																																																																				0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		45	146	0	0	0	1	0	45	146					T	75975290	C	T	75975290	2	4	79	1	0	0	0	0	0	0	0	1	3971	796	28	2		2	CSPG4	15	75975290	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6251	75975290	26556102	15582	25899											
CSPG4	1464	broad.mit.edu	37	chr15	75980453	75980453	+	Missense_Mutation	SNP	G	G	A													ctggcgggtagcaacaaatgGgatatcatcttctgtggtct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980453G>A	ENST00000308508.5	-	3	3045	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	985	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAACAAATGGGATATCATCT	0.577																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2953-2955)Cca>Tca		chondroitin sulfate proteoglycan 4							83	87	86					15																	75980453		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980453G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2953C>T	15.37:g.75980453G>A	ENSP00000312506:p.Pro985Ser						p.P985S	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3045	-			985			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2953C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.488732	0.26686	.	.	ENSG00000173546	ENST00000308508	T	0.25579	1.79	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.33235	0.0856	L	0.60455	1.87	0.39408	D	0.966695	D	0.53151	0.958	P	0.47705	0.555	T	0.11616	-1.0580	10	0.21014	T	0.42	.	17.0533	0.86525	0.0:0.0:1.0:0.0	.	985	Q6UVK1	CSPG4_HUMAN	S	985	ENSP00000312506:P985S	ENSP00000312506:P985S	P	-	1	0	CSPG4	73767508	1.000000	0.71417	0.573000	0.28510	0.881000	0.50899	4.089000	0.57685	2.253000	0.74438	0.555000	0.69702	CCA		0.577	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		31	639	0	0	0	1	0	31	639					A	75980453	G	A	75980453	3	1	79	1	0	0	0	0	1	0	0	0	3971	1232	43	2	4047	2	CSPG4	15	75980453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5163	75980453	26550939	15583	25900	161	2									
CSPG4	1464	broad.mit.edu	37	chr15	75980460	75980460	+	Silent	SNP	A	A	G													gtagcaacaaatgggatatcAtcttctgtggtctcggagtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2944-2946)gaT>gaC		chondroitin sulfate proteoglycan 4							84	88	87					15																	75980460		2197	4293	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980460A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2946T>C	15.37:g.75980460A>G							p.D982D	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3038	-			982			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2946T>C	CCDS10284.1																																																																																				0.572	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		133	544	0	0	0	1	0	133	544					G	75980460	A	G	75980460	2	3	79	1	0	0	0	0	0	0	0	1	3971	214	8	4		4	CSPG4	15	75980460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	75980460	26550932	15584	25901	161	2									
CSPG4	1464	broad.mit.edu	37	chr15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggggaaggtatagaGtggggagaaatatggtggag	21	0	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2656-2658)Ctc>Ttc		chondroitin sulfate proteoglycan 4							60	59	59					15																	75980750		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980750G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2656C>T	15.37:g.75980750G>A	ENSP00000312506:p.Leu886Phe						p.L886F	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2748	-			886			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2656C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.860	-0.030019	0.07543	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.02	3.12	0.35913	.	0.228408	0.29225	N	0.012762	T	0.23014	0.0556	L	0.56769	1.78	0.22851	N	0.998654	P	0.42409	0.779	B	0.42462	0.388	T	0.07443	-1.0772	10	0.56958	D	0.05	.	9.0331	0.36271	0.0835:0.4142:0.5023:0.0	.	886	Q6UVK1	CSPG4_HUMAN	F	886	ENSP00000312506:L886F	ENSP00000312506:L886F	L	-	1	0	CSPG4	73767805	0.109000	0.22037	0.492000	0.27490	0.155000	0.21991	0.496000	0.22499	0.499000	0.27970	-0.145000	0.13849	CTC		0.602	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		51	245	0	0	0	1	0	51	245					A	75980750	G	A	75980750	3	1	79	1	0	0	0	0	1	0	0	0	3971	1029	36	2	4344	2	CSPG4	15	75980750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	75980750	26550642	15585	25902											
CSPG4	1464	broad.mit.edu	37	chr15	75981045	75981045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagtggctccagccgCagcatccacacagtggctct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981045C>T	ENST00000308508.5	-	3	2453	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	787	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCCAGCCGCAGCATCCACA	0.642																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2359-2361)ctG>ctA		chondroitin sulfate proteoglycan 4							36	35	35					15																	75981045		2194	4287	6481	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981045C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2361G>A	15.37:g.75981045C>T							p.L787L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2453	-			787			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2361G>A	CCDS10284.1																																																																																				0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	280	0	0	0	1	0	8	280					T	75981045	C	T	75981045	2	4	79	1	0	0	0	0	0	0	0	1	3971	697	25	2		2	CSPG4	15	75981045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295	75981045	26550347	15586	25903											
CSPG4	1464	broad.mit.edu	37	chr15	75981567	75981567	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccggcaggagaactcggtCgccggctccccaggctggtc	14	16	0	1	rs567486526	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672													C|||	4	0.000798722	0.0	0.0	5008	,	,		16408	0.0		0.0	False		,,,				2504	0.0041					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1837-1839)gcG>gcA		chondroitin sulfate proteoglycan 4							13	16	15					15																	75981567		2173	4258	6431	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981567C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1839G>A	15.37:g.75981567C>T							p.A613A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1931	-			613			Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1839G>A	CCDS10284.1																																																																																				0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		33	169	0	0	0	1	0	33	169					T	75981567	C	T	75981567	2	4	79	1	0	0	0	0	0	0	0	1	3971	871	31	1		1	CSPG4	15	75981567	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522	75981567	26549825	15587	25904											
CSPG4	1464	broad.mit.edu	37	chr15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgtgcccctcgggtcaCgctgaacagcacctgggatt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1414-1416)Gtg>Atg		chondroitin sulfate proteoglycan 4							64	60	61					15																	75981992		2196	4290	6486	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981992C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1414G>A	15.37:g.75981992C>T	ENSP00000312506:p.Val472Met						p.V472M	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1506	-			472			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1414G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889935	0.33348	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.12	4.14	0.48551	.	0.246882	0.28062	N	0.016759	T	0.35653	0.0939	L	0.56769	1.78	0.18873	N	0.999981	D	0.65815	0.995	P	0.54965	0.765	T	0.15321	-1.0441	10	0.72032	D	0.01	.	8.3235	0.32142	0.0:0.7519:0.1604:0.0877	.	472	Q6UVK1	CSPG4_HUMAN	M	472	ENSP00000312506:V472M	ENSP00000312506:V472M	V	-	1	0	CSPG4	73769047	0.989000	0.36119	0.993000	0.49108	0.113000	0.19764	2.504000	0.45416	2.375000	0.81037	0.555000	0.69702	GTG		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		96	681	0	0	0	1	0	96	681					T	75981992	C	T	75981992	3	4	79	1	0	0	0	0	1	0	0	0	3971	536	19	1	5586	1	CSPG4	15	75981992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425	75981992	26549400	15588	25905											
CSPG4	1464	broad.mit.edu	37	chr15	75982969	75982969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgcccccaacaaagAgcccataggggacctctagg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	ENST00000308508.5	-	3	529	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	146	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCAACAAAGAGCCCATAGGG	0.647																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(436-438)cTc>cCc		chondroitin sulfate proteoglycan 4							20	24	22					15																	75982969		2176	4245	6421	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982969A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.437T>C	15.37:g.75982969A>G	ENSP00000312506:p.Leu146Pro						p.L146P	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	529	-			146			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.437T>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684992	0.68157	.	.	ENSG00000173546	ENST00000308508	D	0.83837	-1.77	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.640591	0.14356	N	0.324763	D	0.90045	0.6891	M	0.82823	2.61	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	D	0.90553	0.4510	10	0.87932	D	0	.	13.4697	0.61276	1.0:0.0:0.0:0.0	.	146	Q6UVK1	CSPG4_HUMAN	P	146	ENSP00000312506:L146P	ENSP00000312506:L146P	L	-	2	0	CSPG4	73770024	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	8.904000	0.92590	1.873000	0.54277	0.454000	0.30748	CTC		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		12	309	0	0	0	1	0	12	309					G	75982969	A	G	75982969	3	3	79	1	0	0	0	0	1	0	0	0	3971	304	11	4	6563	4	CSPG4	15	75982969	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	977	75982969	26548423	15589	25906											
C15orf27	123591	broad.mit.edu	37	chr15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccgcagtttgagatcCggcagctgcgcgcgcacctg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	260					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(778-780)Cgg>Tgg		chromosome 15 open reading frame 27							8	10	9					15																	76484318		2037	4010	6047	SO:0001583	missense	123591					integral to membrane		g.chr15:76484318C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.778C>T	15.37:g.76484318C>T	ENSP00000373594:p.Arg260Trp						p.R260W	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			9	1054	+			260					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.778C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780264	0.49891	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.58	3.58	0.41010	.	0.114885	0.56097	D	0.000038	T	0.53546	0.1803	M	0.66939	2.045	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.917	T	0.56257	-0.8009	10	0.72032	D	0.01	-15.5283	9.394	0.38390	0.3178:0.6821:0.0:0.0	.	224;260	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	260	ENSP00000373594:R260W	ENSP00000373594:R260W	R	+	1	2	C15orf27	74271373	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.662000	0.46766	2.097000	0.63578	0.491000	0.48974	CGG		0.736	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		24	128	0	0	0	1	0	24	128					T	76484318	C	T	76484318	3	4	79	1	0	0	0	0	1	0	0	0	1793	643	23	1	808	1	C15orf27	15	76484318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501349	76484318	26047074	15590	25907											
ISL2	64843	broad.mit.edu	37	chr15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctactgcaagcgggactAtgtcaggtgaggccggcggg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	81	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(241-243)tAt>tGt		ISL LIM homeobox 2							45	34	38					15																	76630302		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76630302A>G	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.242A>G	15.37:g.76630302A>G	ENSP00000290759:p.Tyr81Cys						p.Y81C	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			2	402	+			81			LIM zinc-binding 1.		B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.242A>G	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140328	0.77775	.	.	ENSG00000159556	ENST00000290759	D	0.93763	-3.28	4.58	4.58	0.56647	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98633	1.0672	10	0.87932	D	0	.	12.8378	0.57784	1.0:0.0:0.0:0.0	.	81	Q96A47	ISL2_HUMAN	C	81	ENSP00000290759:Y81C	ENSP00000290759:Y81C	Y	+	2	0	ISL2	74417357	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.190000	0.77755	1.712000	0.51347	0.248000	0.18094	TAT		0.731	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			51	240	0	0	0	1	0	51	240					G	76630302	A	G	76630302	3	3	79	1	0	0	0	0	1	0	0	0	7887	449	16	4	248	4	ISL2	15	76630302	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	145984	76630302	25901090	15591	25908											
SCAPER	49855	broad.mit.edu	37	chr15	76696915	76696915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatgtaagagtcctgcGgcatgctgcagaaatatggc	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000563290.1	-	27	3512	c.3417C>T	c.(3415-3417)gcC>gcT	p.A1139A	SCAPER_ENST00000538941.2_Silent_p.A893A|SCAPER_ENST00000324767.7_Silent_p.A1139A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1139			A -> T (in dbSNP:rs3743176).			endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGTCCTGCGGCATGCTGCA	0.478																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(2677-2679)gcC>gcT		S-phase cyclin A-associated protein in the ER							201	184	189					15																	76696915		2054	4199	6253	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76696915G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3417C>T	15.37:g.76696915G>A						SCAPER_ENST00000324767.7_Silent_p.A1139A|SCAPER_ENST00000563290.1_Silent_p.A1139A	p.A893A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			27	3618	-			1138					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2679C>T	CCDS53962.1																																																																																				0.478	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		101	554	0	0	0	1	0	101	554					A	76696915	G	A	76696915	2	1	79	1	0	0	0	0	0	0	0	1	13928	1103	39	1		1	SCAPER	15	76696915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66613	76696915	25834477	15592	25909											
SCAPER	49855	broad.mit.edu	37	chr15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagatatttcagaagTtcgaacataattgtctcgaa	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000563290.1	-	10	1194	c.1099A>C	c.(1099-1101)Act>Cct	p.T367P	SCAPER_ENST00000538941.2_Missense_Mutation_p.T121P|SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	367						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCAGAAGTTCGAACATAA	0.363																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(361-363)Act>Cct		S-phase cyclin A-associated protein in the ER							129	123	125					15																	77064232		1865	4114	5979	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77064232T>G	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1099A>C	15.37:g.77064232T>G	ENSP00000454973:p.Thr367Pro					SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P|SCAPER_ENST00000563290.1_Missense_Mutation_p.T367P	p.T121P	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			10	1300	-			366					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.361A>C	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503271	0.12822	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26660	1.83;1.72	5.11	1.21	0.21127	.	0.674263	0.15665	N	0.250695	T	0.20861	0.0502	M	0.65975	2.015	0.19945	N	0.999945	B;B;B	0.31040	0.305;0.002;0.001	B;B;B	0.31614	0.133;0.001;0.001	T	0.20472	-1.0274	10	0.33141	T	0.24	.	0.9449	0.01363	0.1512:0.2691:0.1568:0.4229	.	367;382;121	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	P	367;121;383	ENSP00000326924:T367P;ENSP00000442190:T121P	ENSP00000303560:T383P	T	-	1	0	SCAPER	74851287	0.008000	0.16893	0.154000	0.22540	0.131000	0.20780	0.008000	0.13197	0.351000	0.24027	0.477000	0.44152	ACT		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		37	376	0	0	0	1	0	37	376					G	77064232	T	G	77064232	3	3	79	1	0	0	0	0	1	0	0	0	13928	1725	60	4	3195	4	SCAPER	15	77064232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367317	77064232	25467160	15593	25910											
PSTPIP1	9051	broad.mit.edu	37	chr15	77325208	77325208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgtctgcagctccgGtgccctaccagaactattac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	ENST00000558012.1	+	12	1333	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	282					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCAGCTCCGGTGCCCTACCA	0.647																																						ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(844-846)Gtg>Atg		proline-serine-threonine phosphatase interacting protein 1							22	21	22					15																	77325208		1893	4091	5984	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77325208G>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.844G>A	15.37:g.77325208G>A	ENSP00000452746:p.Val282Met					PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000557995.1_3'UTR	p.V282M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN			12	1333	+			282					B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.844G>A	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503751	0.44558	.	.	ENSG00000140368	ENST00000379595	T	0.46819	0.86	4.34	3.41	0.39046	.	0.504438	0.20542	N	0.090290	T	0.30135	0.0755	L	0.36672	1.1	0.80722	D	1	P	0.44986	0.847	B	0.35931	0.214	T	0.04650	-1.0936	10	0.33940	T	0.23	-25.3733	7.2166	0.25963	0.1182:0.0:0.8818:0.0	.	282	O43586	PPIP1_HUMAN	M	282	ENSP00000368914:V282M	ENSP00000368914:V282M	V	+	1	0	PSTPIP1	75112263	0.883000	0.30277	0.997000	0.53966	0.601000	0.36947	1.653000	0.37323	2.357000	0.79964	0.462000	0.41574	GTG		0.647	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		13	26	0	0	0	1	0	13	26					A	77325208	G	A	77325208	3	1	79	1	0	0	0	0	1	0	0	0	12768	1261	44	2	890	2	PSTPIP1	15	77325208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260976	77325208	25206184	15594	25911											
SGK269	79834	broad.mit.edu	37	chr15	77407411	77407411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccctgattctctttctggGatgatgctgcttcagaacag	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77407411G>A	ENST00000560626.2	-	7	4803	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1443F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCTTTCTGGGATGATGCTGC	0.498																																						ENST00000560626.2																			0											c.(4327-4329)tCc>tTc		pseudopodium-enriched atypical kinase 1							155	147	149					15																	77407411		2043	4190	6233	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407411G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4328C>T	15.37:g.77407411G>A	ENSP00000452796:p.Ser1443Phe					PEAK1_ENST00000312493.4_Missense_Mutation_p.S1443F	p.S1443F			Q9H792	PEAK1_HUMAN			7	4803	-			1443			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4328C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108844	0.37242	.	.	ENSG00000173517	ENST00000312493	T	0.69806	-0.43	4.81	4.81	0.61882	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.484267	0.17181	U	0.183874	T	0.56992	0.2023	N	0.08118	0	0.37053	D	0.897708	D	0.56287	0.975	P	0.48334	0.574	T	0.70270	-0.4918	10	0.66056	D	0.02	-6.4132	18.2658	0.90052	0.0:0.0:1.0:0.0	.	1443	Q9H792	PEAK1_HUMAN	F	1443	ENSP00000309230:S1443F	ENSP00000309230:S1443F	S	-	2	0	AC087465.1	75194466	0.979000	0.34478	0.999000	0.59377	0.114000	0.19823	4.304000	0.59104	2.417000	0.82017	0.561000	0.74099	TCC		0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			148	683	0	0	0	1	0	148	683					A	77407411	G	A	77407411	3	1	79	1	0	0	0	0	1	0	0	0	14261	1174	41	2	916	2	SGK269	15	77407411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82203	77407411	25123981	15595	25912											
SGK269	79834	broad.mit.edu	37	chr15	77425553	77425553	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctgtatgaaggcttcGgattttacccactacttcct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425553G>A	ENST00000560626.2	-	6	4346	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R1291*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1291					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGAAGGCTTCGGATTTTACCC	0.527																																						ENST00000560626.2																			0											c.(3871-3873)Cga>Tga		pseudopodium-enriched atypical kinase 1							150	148	148					15																	77425553		1893	4110	6003	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425553G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3871C>T	15.37:g.77425553G>A	ENSP00000452796:p.Arg1291*					PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R1291*	p.R1291*			Q9H792	PEAK1_HUMAN			6	4346	-			1291					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.3871C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.057542	0.99631	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.3873	15.2561	0.73585	0.0:0.0:0.8591:0.1409	.	.	.	.	X	1291	.	ENSP00000309230:R1291X	R	-	1	2	AC087465.1	75212608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.555000	0.60767	2.642000	0.89623	0.655000	0.94253	CGA		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			136	705	0	0	0	1	0	136	705					A	77425553	G	A	77425553	4	1	79	1	0	0	0	0	0	1	0	0	14261	1124	39	1	1377	1	SGK269	15	77425553	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18142	77425553	25105839	15596	25913											
SGK269	79834	broad.mit.edu	37	chr15	77425586	77425586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctcccgattctcaaGtcctcgataaagtgcttgtc	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425586G>A	ENST00000560626.2	-	6	4313	c.3838C>T	c.(3838-3840)Ctt>Ttt	p.L1280F	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1280F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1280					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGATTCTCAAGTCCTCGATAA	0.522																																						ENST00000560626.2																			0											c.(3838-3840)Ctt>Ttt		pseudopodium-enriched atypical kinase 1							141	136	138					15																	77425586		1877	4102	5979	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425586G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3838C>T	15.37:g.77425586G>A	ENSP00000452796:p.Leu1280Phe					PEAK1_ENST00000312493.4_Missense_Mutation_p.L1280F	p.L1280F			Q9H792	PEAK1_HUMAN			6	4313	-			1280					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3838C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629020	0.67015	.	.	ENSG00000173517	ENST00000312493	T	0.30182	1.54	5.61	3.54	0.40534	.	0.223449	0.39475	N	0.001350	T	0.30355	0.0762	N	0.19112	0.55	0.33896	D	0.637907	D	0.59767	0.986	P	0.54060	0.741	T	0.42816	-0.9429	10	0.72032	D	0.01	-10.6377	12.4949	0.55923	0.0:0.0:0.7218:0.2782	.	1280	Q9H792	PEAK1_HUMAN	F	1280	ENSP00000309230:L1280F	ENSP00000309230:L1280F	L	-	1	0	AC087465.1	75212641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.061000	0.49963	2.642000	0.89623	0.655000	0.94253	CTT		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			133	698	0	0	0	1	0	133	698					A	77425586	G	A	77425586	3	1	79	1	0	0	0	0	1	0	0	0	14261	1029	36	2	1410	2	SGK269	15	77425586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	77425586	25105806	15597	25914											
SGK269	79834	broad.mit.edu	37	chr15	77473289	77473289	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatgcttccttgtccataaGagaccacagaattttcctca	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77473289G>T	ENST00000560626.2	-	4	1455	c.980C>A	c.(979-981)tCt>tAt	p.S327Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.S327Y|PEAK1_ENST00000558305.1_Missense_Mutation_p.S327Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	327	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTGTCCATAAGAGACCACAGA	0.433																																						ENST00000560626.2																			0											c.(979-981)tCt>tAt		pseudopodium-enriched atypical kinase 1							85	76	79					15																	77473289		1928	4138	6066	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473289G>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.980C>A	15.37:g.77473289G>T	ENSP00000452796:p.Ser327Tyr					PEAK1_ENST00000558305.1_Missense_Mutation_p.S327Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S327Y	p.S327Y			Q9H792	PEAK1_HUMAN			4	1455	-			327			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.980C>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430700	0.43122	.	.	ENSG00000173517	ENST00000312493	T	0.70399	-0.48	5.3	5.3	0.74995	.	0.642209	0.11570	U	0.550836	T	0.60064	0.2240	N	0.24115	0.695	0.37399	D	0.912764	P	0.49961	0.93	P	0.44732	0.459	T	0.63699	-0.6578	10	0.62326	D	0.03	-6.9958	8.1524	0.31148	0.1368:0.0:0.8632:0.0	.	327	Q9H792	PEAK1_HUMAN	Y	327	ENSP00000309230:S327Y	ENSP00000309230:S327Y	S	-	2	0	AC087465.1	75260344	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	6.007000	0.70731	2.469000	0.83416	0.557000	0.71058	TCT		0.433	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			68	384	1	0	5.00936e-31	1	5.8875e-31	68	384					T	77473289	G	T	77473289	3	4	79	1	0	0	0	0	1	0	0	0	14261	942	33	3	4276	3	SGK269	15	77473289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47703	77473289	25058103	15598	25915											
HMG20A	10363	broad.mit.edu	37	chr15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacagaggtaaaggaaCggtctgtttttgacatccct	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	213					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTAAAGGAACGGTCTGTTTT	0.333																																						ENST00000381714.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(637-639)Cgg>Tgg		high mobility group 20A							82	82	82					15																	77769918		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77769918C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.637C>T	15.37:g.77769918C>T	ENSP00000371133:p.Arg213Trp					HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN			8	1065	+			213					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.637C>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446283	0.63178	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69435	-0.4;-0.4	6.04	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	P	0.60286	0.872	T	0.73263	-0.4038	10	0.37606	T	0.19	-15.2639	12.498	0.55940	0.561:0.439:0.0:0.0	.	213	Q9NP66	HM20A_HUMAN	W	213	ENSP00000336856:R213W;ENSP00000371133:R213W	ENSP00000336856:R213W	R	+	1	2	HMG20A	75556973	1.000000	0.71417	0.908000	0.35775	0.993000	0.82548	3.834000	0.55798	1.525000	0.49052	0.563000	0.77884	CGG		0.333	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		7	166	0	0	0	1	0	7	166					T	77769918	C	T	77769918	3	4	79	1	0	0	0	0	1	0	0	0	7251	527	19	1	659	1	HMG20A	15	77769918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296629	77769918	24761474	15599	25916											
LINGO1	84894	broad.mit.edu	37	chr15	77907931	77907931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggctccacggcgctcacGatgttctcgttgagctccag	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	106					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGCGCTCACGATGTTCTCGT	0.627																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(316-318)atC>atT		leucine rich repeat and Ig domain containing 1							35	39	38					15																	77907931		2060	4201	6261	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907931G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.318C>T	15.37:g.77907931G>A						LINGO1_ENST00000561030.1_Silent_p.I100I	p.I106I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	492	-			106					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.318C>T	CCDS45313.1																																																																																				0.627	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		11	87	0	0	0	1	0	11	87					A	77907931	G	A	77907931	2	1	79	1	0	0	0	0	0	0	0	1	8847	1048	37	1		1	LINGO1	15	77907931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138013	77907931	24623461	15600	25917											
TBC1D2B	23102	broad.mit.edu	37	chr15	78290595	78290595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggatggcctccagctcGgtcagctccagccggacttt	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78290595G>A	ENST00000300584.3	-	13	2798	c.2799C>T	c.(2797-2799)acC>acT	p.T933T	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR|RP11-114H24.6_ENST00000562716.1_RNA	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	933							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCCAGCTCGGTCAGCTCCA	0.612																																						ENST00000300584.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2797-2799)acC>acT		TBC1 domain family, member 2B							35	29	31					15																	78290595		2196	4289	6485	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290595G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2799C>T	15.37:g.78290595G>A						TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR	p.T933T	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN			13	2798	-			933					A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.2799C>T	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	g	0.387	-0.925472	0.02377	.	.	ENSG00000167202	ENST00000418039	.	.	.	4.48	-8.97	0.00758	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	.	1.3117	0.02099	0.1662:0.183:0.2526:0.3982	.	.	.	.	L	815	.	.	P	-	2	0	TBC1D2B	76077650	0.000000	0.05858	0.761000	0.31378	0.066000	0.16364	-5.413000	0.00124	-1.951000	0.01029	-1.544000	0.00907	CCG		0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		4	51	0	0	0	1	0	4	51					A	78290595	G	A	78290595	2	1	79	1	0	0	0	0	0	0	0	1	15671	1103	39	1		1	TBC1D2B	15	78290595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382664	78290595	24240797	15601	25918											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtgttgtccttgAacttcctggtgtgacggtcc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000300584.3	-	9	2047	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.F683C	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	683	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2047-2049)tTc>tGc		TBC1 domain family, member 2B							125	97	107					15																	78305387		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305387A>C	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2048T>G	15.37:g.78305387A>C	ENSP00000300584:p.Phe683Cys					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.F683C	p.F683C			Q9UPU7	TBD2B_HUMAN			9	2119	-			683			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2048T>G	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089766|3.089766	0.55968|0.55968	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11495|.	2.77;2.77|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.207578|.	0.51477|.	D|.	0.000086|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.41492|0.41492	1.28|1.28	0.48511|0.48511	D|D	0.999667|0.999667	D;P;D|.	0.63880|.	0.992;0.88;0.993|.	P;P;P|.	0.60173|.	0.794;0.694;0.87|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.56958|.	D|.	0.05|.	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	683;135;683|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	C|A	683|565	ENSP00000387165:F683C;ENSP00000300584:F683C|.	ENSP00000300584:F683C|.	F|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092442|76092442	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.296000|0.296000	0.27459|0.27459	5.797000|5.797000	0.69087|0.69087	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.557	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		28	154	0	0	0	1	0	28	154					C	78305387	A	C	78305387	3	2	79	1	0	0	0	0	1	0	0	0	15671	246	9	4	863	4	TBC1D2B	15	78305387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14792	78305387	24226005	15602	25919											
TBC1D2B	23102	broad.mit.edu	37	chr15	78316861	78316861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatgaccggactgtctgCtggagcagtcgaacaagctc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	ENST00000300584.3	-	6	1106	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_ENST00000409931.3_Silent_p.Q369Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	369							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGTCTGCTGGAGCAGTC	0.517																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1105-1107)caG>caA		TBC1 domain family, member 2B							46	50	48					15																	78316861		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316861C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1107G>A	15.37:g.78316861C>T						TBC1D2B_ENST00000300584.3_Silent_p.Q369Q	p.Q369Q			Q9UPU7	TBD2B_HUMAN			6	1178	-			369					A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.1107G>A	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.191961	0.21954	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.55	1.5	0.22942	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	.	9.9733	0.41768	0.0:0.7174:0.0:0.2826	.	.	.	.	N	251	.	.	S	-	2	0	TBC1D2B	76103916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.866000	0.39489	0.291000	0.22468	0.491000	0.48974	AGC		0.517	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		49	203	0	0	0	1	0	49	203					T	78316861	C	T	78316861	2	4	79	1	0	0	0	0	0	0	0	1	15671	796	28	2		2	TBC1D2B	15	78316861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11474	78316861	24214531	15603	25920											
TBC1D2B	23102	broad.mit.edu	37	chr15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggacggaaagaagacatcGaattcctgttgggaaaaaca	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000300584.3	-	4	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S230L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	230							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(688-690)tCg>tTg		TBC1 domain family, member 2B							49	44	46					15																	78322507		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78322507G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.689C>T	15.37:g.78322507G>A	ENSP00000300584:p.Ser230Leu					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S230L	p.S230L			Q9UPU7	TBD2B_HUMAN			4	760	-			230					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.689C>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453516|3.453516	0.63290|0.63290	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.10763	.|2.84;2.84	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.135418	.|0.51477	.|D	.|0.000098	.|T	.|0.33904	.|0.0879	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.69307	.|0.963;0.909	.|T	.|0.09952	.|-1.0651	.|10	.|0.87932	.|D	.|0	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;230	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	X|L	112|230;230;118	.|ENSP00000387165:S230L;ENSP00000300584:S230L	.|ENSP00000300584:S230L	R|S	-|-	1|2	2|0	TBC1D2B|TBC1D2B	76109562|76109562	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.583000|0.583000	0.36354|0.36354	5.682000|5.682000	0.68182|0.68182	2.350000|2.350000	0.79820|0.79820	0.467000|0.467000	0.42956|0.42956	CGA|TCG		0.353	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		18	87	0	0	0	1	0	18	87					A	78322507	G	A	78322507	3	1	79	1	0	0	0	0	1	0	0	0	15671	1059	37	1	2242	1	TBC1D2B	15	78322507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5646	78322507	24208885	15604	25921											
CIB2	10518	broad.mit.edu	37	chr15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcaaagcccagcttgCcgtcaccgtccaagtcagcc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	162	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617																																						ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(484-486)gGc>gAc		calcium and integrin binding family member 2							182	149	160					15																	78398138		2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78398138C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.485G>A	15.37:g.78398138C>T	ENSP00000258930:p.Gly162Asp					CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000560618.1_Missense_Mutation_p.G119D	p.G162D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			5	813	-			162			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.485G>A	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025649	0.75390	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	D;D	0.83837	-1.77;-1.77	5.59	4.67	0.58626	EF-hand-like domain (1);	0.239373	0.43110	D	0.000604	D	0.91650	0.7361	M	0.91818	3.245	0.54753	D	0.999986	D;B	0.69078	0.997;0.439	D;B	0.63957	0.92;0.328	D	0.92658	0.6139	10	0.54805	T	0.06	-22.6145	13.2955	0.60294	0.0:0.9243:0.0:0.0757	.	162;162	B4DDF0;O75838	.;CIB2_HUMAN	D	162;119	ENSP00000258930:G162D;ENSP00000442459:G119D	ENSP00000258930:G162D	G	-	2	0	CIB2	76185193	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	3.234000	0.51320	1.364000	0.46038	0.591000	0.81541	GGC		0.617	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		72	258	0	0	0	1	0	72	258					T	78398138	C	T	78398138	3	4	79	1	0	0	0	0	1	0	0	0	3430	739	26	2	86	2	CIB2	15	78398138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	78398138	24133254	15605	25922											
CIB2	10518	broad.mit.edu	37	chr15	78398176	78398176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaatgaccttgtcGcacacaagcaccacctcctc	5	19	1	1	rs376577933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000539011.1_Silent_p.C106C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567																																						ENST00000258930.3																			1	Substitution - coding silent(1)	p.C149C(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(445-447)tgC>tgT		calcium and integrin binding family member 2		G		0,4392		0,0,2196	219	172	188		447	-8.9	0.5	15		188	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CIB2	NM_006383.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		149/188	78398176	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78398176G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.447C>T	15.37:g.78398176G>A						CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000560618.1_Silent_p.C106C	p.C149C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			5	775	-			149			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.447C>T	CCDS10296.1																																																																																				0.567	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		35	375	0	0	0	1	0	35	375					A	78398176	G	A	78398176	2	1	79	1	0	0	0	0	0	0	0	1	3430	1079	38	1		1	CIB2	15	78398176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	78398176	24133216	15606	25923											
CIB2	10518	broad.mit.edu	37	chr15	78403609	78403609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagctcatagaatcgCgaatgcagccttggaggaaa	14	9	1	1	rs541843030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.001					ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(94-96)tcG>tcA		calcium and integrin binding family member 2							82	79	80					15																	78403609		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403609C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	15.37:g.78403609C>T						CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	p.S32S	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			3	424	-			32					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.96G>A	CCDS10296.1																																																																																				0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		57	275	0	0	0	1	0	57	275					T	78403609	C	T	78403609	2	4	79	1	0	0	0	0	0	0	0	1	3430	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	78403609	24127783	15607	25924											
IDH3A	3419	broad.mit.edu	37	chr15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctataaaaccccttacaccGatgtaaatattgtgaccatt	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCCTTACACCGATGTAAATAT	0.423																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(415-417)Gat>Aat		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						192	183	186					15																	78454048		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454048G>A		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.415G>A	15.37:g.78454048G>A	ENSP00000299518:p.Asp139Asn					IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000559205.1_Intron	p.D139N	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			5	498	+			139					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.415G>A	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828324	0.32329	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.54866	0.55;0.55	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.11927	0.2	0.80722	D	1	B;B	0.18013	0.025;0.008	B;B	0.23574	0.047;0.014	T	0.28235	-1.0050	10	0.02654	T	1	-31.065	19.5254	0.95203	0.0:0.0:1.0:0.0	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	N	139;30	ENSP00000299518:D139N;ENSP00000387506:D30N	ENSP00000299518:D139N	D	+	1	0	IDH3A	76241103	1.000000	0.71417	0.730000	0.30809	0.862000	0.49288	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GAT		0.423	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		164	672	0	0	0	1	0	164	672					A	78454048	G	A	78454048	3	1	79	1	0	0	0	0	1	0	0	0	7526	1058	37	1	433	1	IDH3A	15	78454048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50439	78454048	24077344	15608	25925											
IDH3A	3419	broad.mit.edu	37	chr15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggcaaggacatggcgaatCccacagccctcctgctcagt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	304					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CATGGCGAATCCCACAGCCCT	0.507																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(910-912)Ccc>Acc		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						174	149	158					15																	78458537		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78458537C>A		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.910C>A	15.37:g.78458537C>A	ENSP00000299518:p.Pro304Thr					IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T	p.P304T	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			10	993	+			304					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.910C>A	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217635	0.95104	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	D;D	0.81996	-1.56;-1.56	5.7	5.7	0.88788	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.99225	4.475	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	0.97303	0.9932	10	0.87932	D	0	-16.5781	18.8361	0.92164	0.0:1.0:0.0:0.0	.	269;254;304	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	T	304;195	ENSP00000299518:P304T;ENSP00000387506:P195T	ENSP00000299518:P304T	P	+	1	0	IDH3A	76245592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.741000	0.84997	2.681000	0.91329	0.655000	0.94253	CCC		0.507	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		122	507	1	0	2.81171e-42	1	3.42249e-42	122	507					A	78458537	C	A	78458537	3	1	79	1	0	0	0	0	1	0	0	0	7526	855	30	3	948	3	IDH3A	15	78458537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	78458537	24072855	15609	25926											
ACSBG1	23205	broad.mit.edu	37	chr15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcttcctcaggcactTcattccccagctccatgaat	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	258					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(772-774)gAa>gGa		acyl-CoA synthetase bubblegum family member 1							80	71	74					15																	78474929		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474929T>C	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.773A>G	15.37:g.78474929T>C	ENSP00000258873:p.Glu258Gly					ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G	p.E258G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			7	978	-			258					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.773A>G	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063865	0.36373	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.16	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.557117	0.18063	N	0.152890	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.32981	-0.9886	10	0.23891	T	0.37	-1.6861	9.7706	0.40587	0.0:0.0821:0.0:0.9179	.	254;258	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	258;16	ENSP00000258873:E258G;ENSP00000439955:E16G	ENSP00000258873:E258G	E	-	2	0	ACSBG1	76261984	0.954000	0.32549	0.001000	0.08648	0.511000	0.34104	3.434000	0.52841	0.806000	0.34183	0.529000	0.55759	GAA		0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		53	267	0	0	0	1	0	53	267					C	78474929	T	C	78474929	3	2	79	1	0	0	0	0	1	0	0	0	173	1783	62	4	1433	4	ACSBG1	15	78474929	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16392	78474929	24056463	15610	25927											
ACSBG1	23205	broad.mit.edu	37	chr15	78475047	78475047	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccccactgcccatacCgtgtacacattggccatctt	8	16	1	0	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.e6+1		acyl-CoA synthetase bubblegum family member 1							128	121	123					15																	78475047		2196	4293	6489	SO:0001630	splice_region_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78475047C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.744+1G>A	15.37:g.78475047C>T						ACSBG1_ENST00000560817.1_Splice_Site_p.T6_splice|ACSBG1_ENST00000541759.1_Splice_Site_p.T6_splice	p.T248_splice	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			6	949	-			248					B2RB61|O75126|Q76N27|Q9HC26	Splice_Site	SNP	ENST00000258873.4	37	c.744_splice	CCDS10298.1																																																																																				0.532	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	Silent	129	665	0	0	0	1	0	129	665					T	78475047	C	T	78475047	5	4	79	1	0	0	0	0	0	0	1	0	173	666	23	1	1466	1	ACSBG1	15	78475047	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	78475047	24056345	15611	25928											
DNAJA4	55466	broad.mit.edu	37	chr15	78557118	78557118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacaagatggtgaaggagAcccagtactatgacatcctg	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78557118A>G	ENST00000394852.3	+	1	203	c.13A>G	c.(13-15)Acc>Gcc	p.T5A	RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000394855.3_Missense_Mutation_p.T34A|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000558971.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	5	J.				negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GGTGAAGGAGACCCAGTACTA	0.697																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(100-102)Acc>Gcc		DnaJ (Hsp40) homolog, subfamily A, member 4							29	26	27					15																	78557118		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78557118A>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.13A>G	15.37:g.78557118A>G	ENSP00000378321:p.Thr5Ala					DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000394852.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A	p.T34A	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			2	328	+			5			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.100A>G	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760177	0.49468	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	N	0.25485	0.75	0.80722	D	1	D;D	0.71674	0.998;0.995	P;D	0.67725	0.858;0.953	T	0.74734	-0.3565	10	0.72032	D	0.01	-13.9376	9.8993	0.41338	0.8476:0.0:0.0:0.1524	.	5;34	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	A	34;34;5;5	ENSP00000378324:T34A;ENSP00000438263:T34A;ENSP00000339581:T5A;ENSP00000378321:T5A	ENSP00000339581:T5A	T	+	1	0	DNAJA4	76344173	1.000000	0.71417	0.825000	0.32803	0.009000	0.06853	6.644000	0.74338	1.739000	0.51704	0.455000	0.32223	ACC		0.697	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		10	59	0	0	0	1	0	10	59					G	78557118	A	G	78557118	3	3	79	1	0	0	0	0	1	0	0	0	4630	275	10	4	106	4	DNAJA4	15	78557118	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82071	78557118	23974274	15612	25929											
DNAJA4	55466	broad.mit.edu	37	chr15	78566680	78566680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagggccagggtgagcGcatcaaccccaaggaccgct	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78566680G>A	ENST00000394852.3	+	4	750	c.560G>A	c.(559-561)cGc>cAc	p.R187H	DNAJA4_ENST00000394855.3_Missense_Mutation_p.R216H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	187					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGGGTGAGCGCATCAACCCC	0.602																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(646-648)cGc>cAc		DnaJ (Hsp40) homolog, subfamily A, member 4							73	63	66					15																	78566680		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78566680G>A	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.560G>A	15.37:g.78566680G>A	ENSP00000378321:p.Arg187His					DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H|DNAJA4_ENST00000394852.3_Missense_Mutation_p.R187H	p.R216H	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			5	875	+			187					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.647G>A	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912019	0.52439	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.63744	0.16;0.16;0.16;-0.06	5.63	4.71	0.59529	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.047080	0.85682	D	0.000000	T	0.61098	0.2320	M	0.74258	2.255	0.46011	D	0.998812	B;B;B;B	0.29212	0.211;0.07;0.237;0.093	B;B;B;B	0.27608	0.052;0.052;0.081;0.03	T	0.58853	-0.7563	10	0.16420	T	0.52	-2.4379	15.7352	0.77837	0.0:0.1366:0.8634:0.0	.	102;160;187;216	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	H	216;187;187;160	ENSP00000378324:R216H;ENSP00000339581:R187H;ENSP00000378321:R187H;ENSP00000413499:R160H	ENSP00000339581:R187H	R	+	2	0	DNAJA4	76353735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.366000	0.46076	0.655000	0.94253	CGC		0.602	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		9	352	0	0	0	1	0	9	352					A	78566680	G	A	78566680	3	1	79	1	0	0	0	0	1	0	0	0	4630	1087	38	1	720	1	DNAJA4	15	78566680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9562	78566680	23964712	15613	25930											
WDR61	80349	broad.mit.edu	37	chr15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagactccactgtaGgtccagcctctcatcacgcc	6	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|WDR61_ENST00000558459.1_Intron|RP11-762H8.1_ENST00000560057.1_RNA			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	56					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517																																						ENST00000267973.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(166-168)Cta>Ata		WD repeat domain 61							62	57	59					15																	78585111		2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78585111G>T		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.166C>A	15.37:g.78585111G>T	ENSP00000267973:p.Leu56Ile					WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I	p.L56I			Q9GZS3	WDR61_HUMAN			5	437	-			56					D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.166C>A	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036652	0.54896	.	.	ENSG00000140395	ENST00000267973	D	0.82255	-1.59	5.91	3.8	0.43715	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	0.77811	0.4186	L	0.49640	1.575	0.80722	D	1	B;B	0.26809	0.068;0.16	B;B	0.32533	0.141;0.147	T	0.73251	-0.4042	10	0.33940	T	0.23	-4.9475	8.9529	0.35801	0.1003:0.0:0.7482:0.1514	.	56;56	B4E387;Q9GZS3	.;WDR61_HUMAN	I	56	ENSP00000267973:L56I	ENSP00000267973:L56I	L	-	1	2	WDR61	76372166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.389000	0.73199	1.484000	0.48361	0.655000	0.94253	CTA		0.517	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		19	190	1	0	1.22574e-08	1	1.28258e-08	19	190					T	78585111	G	T	78585111	3	4	79	1	0	0	0	0	1	0	0	0	17366	991	35	3	779	3	WDR61	15	78585111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18431	78585111	23946281	15614	25931											
CRABP1	1381	broad.mit.edu	37	chr15	78640310	78640310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcaccagaatttatgtCcgagagtgaaggcagctggc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	135					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	GAATTTATGTCCGAGAGTGAA	0.498																																					Ovarian(146;578 3231 38536)	ENST00000299529.6																			0				breast(1)|lung(4)|skin(1)	6						c.(403-405)gtC>gtT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						161	145	150					15																	78640310		2196	4293	6489	SO:0001819	synonymous_variant	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78640310C>T		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"Fatty acid binding protein family"	2338	protein-coding gene	gene with protein product		180230	"cellular retinoic acid-binding protein 1"	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.405C>T	15.37:g.78640310C>T							p.V135V	NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN			4	510	+			135					Q6IAY7|Q8WTV5	Silent	SNP	ENST00000299529.6	37	c.405C>T	CCDS10301.1																																																																																				0.498	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		64	375	0	0	0	1	0	64	375					T	78640310	C	T	78640310	2	4	79	1	0	0	0	0	0	0	0	1	3852	842	30	2		2	CRABP1	15	78640310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55199	78640310	23891082	15615	25932											
IREB2	3658	broad.mit.edu	37	chr15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcagggtgatttggTtacctgtggaattttatctg	10	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	602					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTGATTTGGTTACCTGTGGA	0.343																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1804-1806)gTt>gCt		iron-responsive element binding protein 2							124	130	128					15																	78780532		2195	4293	6488	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78780532T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1805T>C	15.37:g.78780532T>C	ENSP00000258886:p.Val602Ala						p.V602A	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	15	1954	+			602					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1805T>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557804	0.65425	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.175846	0.49305	D	0.000148	T	0.51432	0.1674	M	0.86178	2.8	0.80722	D	1	P	0.45569	0.861	B	0.42214	0.38	T	0.62006	-0.6945	10	0.54805	T	0.06	.	14.8033	0.69932	0.0:0.0:0.0:1.0	.	602	P48200	IREB2_HUMAN	A	602	ENSP00000258886:V602A	ENSP00000258886:V602A	V	+	2	0	IREB2	76567587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.807000	0.86032	1.905000	0.55150	0.528000	0.53228	GTT		0.343	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		91	433	0	0	0	1	0	91	433					C	78780532	T	C	78780532	3	2	79	1	0	0	0	0	1	0	0	0	7856	1725	60	4	1863	4	IREB2	15	78780532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140222	78780532	23750860	15616	25933											
AGPHD1	123688	broad.mit.edu	37	chr15	78805579	78805579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaccaaaactttcatgTctacgtttcaaaaaccaaag	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78805579T>C	ENST00000569878.1	+	1	149	c.149T>C	c.(148-150)gTc>gCc	p.V50A	HYKK_ENST00000408962.2_Missense_Mutation_p.V50A|HYKK_ENST00000563233.1_Missense_Mutation_p.V50A|HYKK_ENST00000360519.3_Missense_Mutation_p.V50A|HYKK_ENST00000566332.1_Missense_Mutation_p.V50A|HYKK_ENST00000388988.4_Missense_Mutation_p.V50A			A2RU49	HYKK_HUMAN	hydroxylysine kinase	50						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										AACTTTCATGTCTACGTTTCA	0.438																																						ENST00000566332.1																			0											c.(148-150)gTc>gCc		hydroxylysine kinase							103	100	101					15																	78805579		2000	4175	6175	SO:0001583	missense	123688							g.chr15:78805579T>C	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.149T>C	15.37:g.78805579T>C	ENSP00000455459:p.Val50Ala					HYKK_ENST00000388988.4_Missense_Mutation_p.V50A|HYKK_ENST00000360519.3_Missense_Mutation_p.V50A|HYKK_ENST00000408962.2_Missense_Mutation_p.V50A|HYKK_ENST00000569878.1_Missense_Mutation_p.V50A|HYKK_ENST00000563233.1_Missense_Mutation_p.V50A	p.V50A							2	209	+								B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	ENST00000569878.1	37	c.149T>C	CCDS42063.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848193	0.71603	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.35789	1.29;1.29;1.29	5.83	5.83	0.93111	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.150752	0.45361	D	0.000366	T	0.60766	0.2294	M	0.78916	2.43	0.39944	D	0.974455	B;D	0.67145	0.416;0.996	P;D	0.65140	0.507;0.932	T	0.67436	-0.5671	10	0.87932	D	0	-17.4498	16.1968	0.82036	0.0:0.0:0.0:1.0	.	50;50	A2RU49;A2RU49-3	AGPD1_HUMAN;.	A	50	ENSP00000386197:V50A;ENSP00000373640:V50A;ENSP00000353710:V50A	ENSP00000353710:V50A	V	+	2	0	AGPHD1	76592634	1.000000	0.71417	0.283000	0.24790	0.562000	0.35680	6.893000	0.75649	2.225000	0.72522	0.533000	0.62120	GTC		0.438	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		88	348	0	0	0	1	0	88	348					C	78805579	T	C	78805579	3	2	79	1	0	0	0	0	1	0	0	0	393	1667	58	4	151	4	AGPHD1	15	78805579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25047	78805579	23725813	15617	25934											
PSMA4	5685	broad.mit.edu	37	chr15	78837253	78837253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaataccttgtgagcagttGgttacagcgctgtgtgatat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000044462.7	+	6	480	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000413382.2_Silent_p.L39L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(328-330)ttG>ttA		proteasome (prosome, macropain) subunit, alpha type, 4							103	99	100					15																	78837253		2196	4293	6489	SO:0001819	synonymous_variant	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837253G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.330G>A	15.37:g.78837253G>A						PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000560217.1_Silent_p.L79L	p.L110L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			6	480	+			110					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	37	c.330G>A	CCDS10303.1																																																																																				0.328	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		53	236	0	0	0	1	0	53	236					A	78837253	G	A	78837253	2	1	79	1	0	0	0	0	0	0	0	1	12716	1339	47	2		2	PSMA4	15	78837253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31674	78837253	23694139	15618	25935											
CHRNA3	1136	broad.mit.edu	37	chr15	78893874	78893874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcggcaccgtagaggggCctcggcttctgagcgttgcc	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893874C>A	ENST00000326828.5	-	5	1494	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.R370S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	370					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTAGAGGGGCCTCGGCTTCT	0.577																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1108-1110)agG>agT		cholinergic receptor, nicotinic, alpha 3 (neuronal)							82	76	78					15																	78893874		2196	4293	6489	SO:0001583	missense	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893874C>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1110G>T	15.37:g.78893874C>A	ENSP00000315602:p.Arg370Ser					CHRNA3_ENST00000348639.3_Missense_Mutation_p.R370S	p.R370S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1494	-			370					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1110G>T	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	2.181	-0.387565	0.04932	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.70282	-0.47;-0.47	6.02	-2.19	0.07015	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.303789	0.38217	N	0.001774	T	0.55737	0.1939	L	0.37800	1.135	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.007	T	0.41627	-0.9498	10	0.08837	T	0.75	.	17.5498	0.87872	0.0:0.7789:0.0:0.2211	.	370;370	P32297;P32297-3	ACHA3_HUMAN;.	S	370;370;234	ENSP00000267951:R370S;ENSP00000315602:R370S	ENSP00000315602:R370S	R	-	3	2	CHRNA3	76680929	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.062000	0.11674	-0.473000	0.06871	0.655000	0.94253	AGG		0.577	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			85	340	1	0	3.69863e-55	1	4.62091e-55	85	340					A	78893874	C	A	78893874	3	1	79	1	0	0	0	0	1	0	0	0	3393	738	26	3	500	3	CHRNA3	15	78893874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56621	78893874	23637518	15619	25936											
CHRNA3	1136	broad.mit.edu	37	chr15	78893898	78893898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctgagcgttgccctcGttgcttgttggcctggtcat	13	11	2	1	rs201180674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000326828.5	-	5	1470	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000348639.3_Silent_p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	362					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTTGCCCTCGTTGCTTGTTG	0.567																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1084-1086)aaC>aaT		cholinergic receptor, nicotinic, alpha 3 (neuronal)		G	,	0,4392		0,0,2196	100	91	94		1086,1086	-3.8	0	15		94	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CHRNA3	NM_000743.4,NM_001166694.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	362/506,362/490	78893898	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893898G>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1086C>T	15.37:g.78893898G>A						CHRNA3_ENST00000348639.3_Silent_p.N362N	p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1470	-			362					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.1086C>T	CCDS10305.1																																																																																				0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			82	366	0	0	0	1	0	82	366					A	78893898	G	A	78893898	2	1	79	1	0	0	0	0	0	0	0	1	3393	1136	40	1		1	CHRNA3	15	78893898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	78893898	23637494	15620	25937											
CHRNB4	1143	broad.mit.edu	37	chr15	78921375	78921375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccttctaatgcctcctgCacatcctgtcggaacctccc	5	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000261751.3	-	5	1383	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	424					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.V424V(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGCCTCCTGCACATCCTGTC	0.592																																						ENST00000261751.3																			1	Substitution - coding silent(1)	p.V424V(1)	endometrium(1)	endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1270-1272)gtG>gtA		cholinergic receptor, nicotinic, beta 4 (neuronal)							72	66	68					15																	78921375		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921375C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1272G>A	15.37:g.78921375C>T						CHRNB4_ENST00000412074.2_Intron	p.V424V	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1383	-			424					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.1272G>A	CCDS10306.1																																																																																				0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			70	302	0	0	0	1	0	70	302					T	78921375	C	T	78921375	2	4	79	1	0	0	0	0	0	0	0	1	3402	697	25	2		2	CHRNB4	15	78921375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27477	78921375	23610017	15621	25938											
CHRNB4	1143	broad.mit.edu	37	chr15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagtacatggagttcCcatagaagttggaggggctg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000261751.3	-	5	1262	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	384					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CATGGAGTTCCCATAGAAGTT	0.647																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1150-1152)gGg>gTg		cholinergic receptor, nicotinic, beta 4 (neuronal)							53	54	54					15																	78921496		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921496C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1151G>T	15.37:g.78921496C>A	ENSP00000261751:p.Gly384Val					CHRNB4_ENST00000412074.2_Intron	p.G384V	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1262	-			384					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.1151G>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001711	0.07819	.	.	ENSG00000117971	ENST00000261751	T	0.69926	-0.44	5.3	0.0871	0.14449	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.56717	0.2004	M	0.62088	1.915	0.30273	N	0.792051	B	0.14805	0.011	B	0.21151	0.033	T	0.50303	-0.8844	9	0.25751	T	0.34	.	4.6321	0.12507	0.0:0.3665:0.1614:0.4721	.	384	P30926	ACHB4_HUMAN	V	384	ENSP00000261751:G384V	ENSP00000261751:G384V	G	-	2	0	CHRNB4	76708551	0.000000	0.05858	0.060000	0.19600	0.122000	0.20287	0.259000	0.18405	0.231000	0.21079	-0.136000	0.14681	GGG		0.647	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			44	199	1	0	2.37825e-27	1	2.75276e-27	44	199					A	78921496	C	A	78921496	3	1	79	1	0	0	0	0	1	0	0	0	3402	623	22	3	353	3	CHRNB4	15	78921496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	78921496	23609896	15622	25939											
CHRNB4	1143	broad.mit.edu	37	chr15	78923439	78923439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtaaagcacgatgtcaGgcaaccagatgcgctttgca	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78923439G>T	ENST00000261751.3	-	4	449	c.338C>A	c.(337-339)cCt>cAt	p.P113H	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	113					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CACGATGTCAGGCAACCAGAT	0.592																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(337-339)cCt>cAt		cholinergic receptor, nicotinic, beta 4 (neuronal)							122	95	104					15																	78923439		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78923439G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.338C>A	15.37:g.78923439G>T	ENSP00000261751:p.Pro113His					CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|CHRNB4_ENST00000560511.1_5'UTR	p.P113H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			4	449	-			113					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.338C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762921	0.89932	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.98567	-5.0;-5.0	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97969	1.0342	10	0.87932	D	0	.	18.6314	0.91361	0.0:0.0:1.0:0.0	.	113;113	E9PHE8;P30926	.;ACHB4_HUMAN	H	113	ENSP00000261751:P113H;ENSP00000416386:P113H	ENSP00000261751:P113H	P	-	2	0	CHRNB4	76710494	1.000000	0.71417	0.993000	0.49108	0.816000	0.46133	9.761000	0.98940	2.405000	0.81733	0.650000	0.86243	CCT		0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			7	359	1	0	0.00448238	1	0.00451339	7	359					T	78923439	G	T	78923439	3	4	79	1	0	0	0	0	1	0	0	0	3402	1000	35	3	1170	3	CHRNB4	15	78923439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1943	78923439	23607953	15623	25940											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058949	79058949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acccgtggagggcgcagcagGatggctgtgtggtgggggtg	22	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	ENST00000388820.4	-	19	3514	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1102					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGCAGCAGGATGGCTGTGT	0.657																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3304-3306)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 7							12	19	17					15																	79058949		2143	4270	6413	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058949G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3304C>A	15.37:g.79058949G>T	ENSP00000373472:p.Pro1102Thr						p.P1102T	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3514	-			1102					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3304C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	9.927	1.213878	0.22289	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	3.47	2.51	0.30379	.	0.313022	0.29987	N	0.010681	T	0.52484	0.1737	M	0.72894	2.215	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.42882	-0.9425	10	0.28530	T	0.3	.	10.5915	0.45312	0.0:0.3802:0.6198:0.0	.	1102	Q9UKP4	ATS7_HUMAN	T	1102	ENSP00000373472:P1102T	ENSP00000373472:P1102T	P	-	1	0	ADAMTS7	76846004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.030000	0.13688	0.521000	0.28445	0.574000	0.79327	CCT		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		21	169	1	0	5.35356e-11	1	5.69577e-11	21	169					T	79058949	G	T	79058949	3	4	79	1	0	0	0	0	1	0	0	0	271	1174	41	3	1780	3	ADAMTS7	15	79058949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135510	79058949	23472443	15624	25941											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaccggtgtcattggTgcagaggacatttcggcgct	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	970	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2908-2910)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							41	45	44					15																	79059345		2192	4280	6472	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059345T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2908A>G	15.37:g.79059345T>C	ENSP00000373472:p.Thr970Ala					ADAMTS7_ENST00000566303.1_5'UTR	p.T970A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3118	-			970			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2908A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736240	0.03111	.	.	ENSG00000136378	ENST00000388820	T	0.50548	0.74	4.83	2.5	0.30297	.	0.752267	0.12865	N	0.432744	T	0.28995	0.0720	N	0.21194	0.64	0.19300	N	0.999978	B	0.21452	0.056	B	0.27076	0.076	T	0.30650	-0.9971	10	0.05959	T	0.93	.	8.0235	0.30423	0.0:0.1736:0.0:0.8264	.	970	Q9UKP4	ATS7_HUMAN	A	970	ENSP00000373472:T970A	ENSP00000373472:T970A	T	-	1	0	ADAMTS7	76846400	1.000000	0.71417	0.004000	0.12327	0.062000	0.15995	2.832000	0.48152	0.213000	0.20722	-0.342000	0.07992	ACC		0.667	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		60	283	0	0	0	1	0	60	283					C	79059345	T	C	79059345	3	2	79	1	0	0	0	0	1	0	0	0	271	1696	59	4	2176	4	ADAMTS7	15	79059345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396	79059345	23472047	15625	25942											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059359	79059359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggtgcagaggacatttCggcgctgagtgccctcccca	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059359C>T	ENST00000388820.4	-	19	3104	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	965	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGGACATTTCGGCGCTGAGT	0.662																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2893-2895)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 7							38	41	40					15																	79059359		2186	4270	6456	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059359C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2894G>A	15.37:g.79059359C>T	ENSP00000373472:p.Arg965Gln					ADAMTS7_ENST00000566303.1_5'UTR	p.R965Q	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3104	-			965			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2894G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789121	0.70337	.	.	ENSG00000136378	ENST00000388820	T	0.80738	-1.41	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.92463	0.7607	H	0.94964	3.605	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	16.4908	0.84200	0.0:1.0:0.0:0.0	.	965	Q9UKP4	ATS7_HUMAN	Q	965	ENSP00000373472:R965Q	ENSP00000373472:R965Q	R	-	2	0	ADAMTS7	76846414	1.000000	0.71417	0.048000	0.18961	0.073000	0.16967	5.370000	0.66144	2.214000	0.71695	0.579000	0.79373	CGA		0.662	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		70	253	0	0	0	1	0	70	253					T	79059359	C	T	79059359	3	4	79	1	0	0	0	0	1	0	0	0	271	884	31	1	2190	1	ADAMTS7	15	79059359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	79059359	23472033	15626	25943											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059868	79059868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcggatgcagagcacGgcccggcgggagaggccccc	17	15	0	2	rs368801533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	ENST00000388820.4	-	18	2922	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	904	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGCACGGCCCGGCGGG	0.697																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2710-2712)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 7		A		1,4333		0,1,2166	12	15	14		2712	-9.2	0	15		14	0,8544		0,0,4272	no	coding-synonymous	ADAMTS7	NM_014272.3		0,1,6438	AA,AG,GG		0.0,0.0231,0.0078		904/1687	79059868	1,12877	2167	4272	6439	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059868G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2712C>T	15.37:g.79059868G>A						ADAMTS7_ENST00000566303.1_Intron	p.A904A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			18	2922	-			904			TSP type-1 3.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2712C>T	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		18	65	0	0	0	1	0	18	65					A	79059868	G	A	79059868	2	1	79	1	0	0	0	0	0	0	0	1	271	1103	39	1		1	ADAMTS7	15	79059868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509	79059868	23471524	15627	25944											
ADAMTS7	11173	broad.mit.edu	37	chr15	79064008	79064008	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtgcgtatgtgaaggtggtCcctgccacctggtagtcccc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	765	Spacer.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2293-2295)ggG>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							72	56	61					15																	79064008		2196	4293	6489	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064008C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2295G>T	15.37:g.79064008C>A						ADAMTS7_ENST00000566303.1_Intron	p.G765G	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			15	2505	-			765			Spacer.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2295G>T	CCDS32303.1																																																																																				0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		22	196	1	0	1.10923e-09	1	1.16946e-09	22	196					A	79064008	C	A	79064008	2	1	79	1	0	0	0	0	0	0	0	1	271	842	30	3		3	ADAMTS7	15	79064008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4140	79064008	23467384	15628	25945											
ADAMTS7	11173	broad.mit.edu	37	chr15	79064172	79064172	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccccacatccacataccCtgtcagccaagggttgtgca	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.e15-1		ADAM metallopeptidase with thrombospondin type 1 motif, 7							40	30	33					15																	79064172		2196	4293	6489	SO:0001630	splice_region_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064172C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2132-1G>T	15.37:g.79064172C>A						ADAMTS7_ENST00000566303.1_Intron		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			15	2342	-								Q14F51|Q6P7J9	Splice_Site	SNP	ENST00000388820.4	37		CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748845	0.49257	.	.	ENSG00000136378	ENST00000388820	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0564	0.71917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS7	76851227	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	7.453000	0.80700	2.106000	0.64143	0.433000	0.28618	.		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	Intron	24	130	1	0	1.32181e-22	1	1.49747e-22	24	130					A	79064172	C	A	79064172	5	1	79	1	0	0	0	0	0	0	1	0	271	695	24	3	2969	3	ADAMTS7	15	79064172	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	79064172	23467220	15629	25946											
ADAMTS7	11173	broad.mit.edu	37	chr15	79082066	79082066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctacagtgaaggccagCggcaggcccgtgtcctcgtt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	381	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGCCAGCGGCAGGCCCG	0.672																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1141-1143)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							33	29	30					15																	79082066		2196	4292	6488	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79082066C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1143G>A	15.37:g.79082066C>T						ADAMTS7_ENST00000566303.1_5'UTR	p.P381P	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			7	1353	-			381			Peptidase M12B.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.1143G>A	CCDS32303.1																																																																																				0.672	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		24	103	0	0	0	1	0	24	103					T	79082066	C	T	79082066	2	4	79	1	0	0	0	0	0	0	0	1	271	755	27	1		1	ADAMTS7	15	79082066	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17894	79082066	23449326	15630	25947											
CTSH	1512	broad.mit.edu	37	chr15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaggacagcatctttcCggttgcgatggcgatcgcag	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622																																						ENST00000220166.5																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.(475-477)Gga>Aga		cathepsin H							73	71	72					15																	79224731		2196	4293	6489	SO:0001583	missense	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79224731C>T	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.475G>A	15.37:g.79224731C>T	ENSP00000220166:p.Gly159Arg					CTSH_ENST00000534533.1_5'UTR	p.G159R	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN			6	584	-			159					B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	c.475G>A	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893569	0.52121	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	T;T	0.27402	1.67;1.67	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.72551	-0.4259	10	0.66056	D	0.02	.	13.2051	0.59790	0.0:1.0:0.0:0.0	.	147	E9PBP2	.	R	159;147;83	ENSP00000220166:G159R;ENSP00000435329:G83R	ENSP00000220166:G159R	G	-	1	0	CTSH	77011786	0.999000	0.42202	0.317000	0.25265	0.177000	0.22998	4.443000	0.59994	2.155000	0.67459	0.655000	0.94253	GGA		0.622	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		38	197	0	0	0	1	0	38	197					T	79224731	C	T	79224731	3	4	79	1	0	0	0	0	1	0	0	0	4047	661	23	1	560	1	CTSH	15	79224731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142665	79224731	23306661	15631	25948											
RASGRF1	5923	broad.mit.edu	37	chr15	79296436	79296436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcggcgaggagaacttGcgggtggcgcgcggggactt	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGAGAACTTGCGGGTGGCGC	0.647																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2203-2205)cgC>cgT		Ras protein-specific guanine nucleotide-releasing factor 1							40	46	44					15																	79296436		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296436G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2205C>T	15.37:g.79296436G>A						RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	p.R735R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2479	-			735			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2205C>T	CCDS10309.1																																																																																				0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		18	489	0	0	0	1	0	18	489					A	79296436	G	A	79296436	2	1	79	1	0	0	0	0	0	0	0	1	13122	1306	46	2		2	RASGRF1	15	79296436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71705	79296436	23234956	15632	25949											
KIAA1024	23251	broad.mit.edu	37	chr15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatagctgctctgatcGctgctgcggcatgcaccgtc	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	897						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2689-2691)Gct>Act		KIAA1024							77	67	70					15																	79760664		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79760664G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2689G>A	15.37:g.79760664G>A	ENSP00000307461:p.Ala897Thr						p.A897T	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			4	2764	+			897					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2689G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625106	0.03636	.	.	ENSG00000169330	ENST00000305428	T	0.39997	1.05	5.67	0.306	0.15806	.	0.554149	0.19760	N	0.106696	T	0.13628	0.0330	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.23726	-1.0180	9	.	.	.	.	4.7925	0.13256	0.362:0.0:0.5035:0.1345	.	897	Q9UPX6	K1024_HUMAN	T	897	ENSP00000307461:A897T	.	A	+	1	0	KIAA1024	77547719	0.425000	0.25498	0.001000	0.08648	0.062000	0.15995	1.620000	0.36976	0.064000	0.16427	-0.122000	0.15005	GCT		0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		28	110	0	0	0	1	0	28	110					A	79760664	G	A	79760664	3	1	79	1	0	0	0	0	1	0	0	0	8235	1087	38	1	2699	1	KIAA1024	15	79760664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464228	79760664	22770728	15633	25950											
FAH	2184	broad.mit.edu	37	chr15	80478528	80478528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtgctggaaaagtgCtgcctgctctcctgccatca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000407106.1	+	15	1392	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	FAH_ENST00000539156.1_Silent_p.L343L|FAH_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	413					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1027-1029)Ctg>Ttg		fumarylacetoacetate hydrolase (fumarylacetoacetase)							159	133	142					15																	80478528		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80478528C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1237C>T	15.37:g.80478528C>T						FAH_ENST00000407106.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000561421.1_Silent_p.L413L	p.L343L			P16930	FAAA_HUMAN			13	3265	+			413					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.1027C>T	CCDS10314.1																																																																																				0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			63	273	0	0	0	1	0	63	273					T	80478528	C	T	80478528	2	4	79	1	0	0	0	0	0	0	0	1	5392	796	28	2		2	FAH	15	80478528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	717864	80478528	22052864	15634	25951											
ARNT2	9915	broad.mit.edu	37	chr15	80845037	80845037	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtcggtgcccacagagttCttatcccggcataactccga	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000303329.4	+	10	1176	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ARNT2_ENST00000527771.1_Silent_p.F326F|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.F326F	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(976-978)ttC>ttT		aryl-hydrocarbon receptor nuclear translocator 2							170	142	152					15																	80845037		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845037C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1011C>T	15.37:g.80845037C>T						ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000303329.4_Silent_p.F337F	p.F326F			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1317	+			337			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.978C>T	CCDS32307.1																																																																																				0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			18	551	0	0	0	1	0	18	551					T	80845037	C	T	80845037	2	4	79	1	0	0	0	0	0	0	0	1	967	912	32	2		2	ARNT2	15	80845037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366509	80845037	21686355	15635	25952											
KIAA1199	57214	broad.mit.edu	37	chr15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagttgtgcccatccCtgtggtgaagaagaagaagt	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H			Q8WUJ3	CEMIP_HUMAN		1354					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCCATCCCTGTGGTGAAG	0.557																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4060-4062)cCt>cAt		KIAA1199							177	150	159					15																	81241240		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81241240C>A																												ENST00000394685.3:c.4061C>A	15.37:g.81241240C>A	ENSP00000378177:p.Pro1354His					KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H	p.P1354H			Q8WUJ3	K1199_HUMAN			30	4480	+			1354					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.4061C>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528904	0.64860	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.70399	-0.48;-0.48;-0.48	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.83673	0.0167	10	0.87932	D	0	-21.3879	13.7161	0.62697	0.0:0.9245:0.0:0.0755	.	1354	Q8WUJ3	K1199_HUMAN	H	1354	ENSP00000220244:P1354H;ENSP00000378177:P1354H;ENSP00000348583:P1354H	ENSP00000220244:P1354H	P	+	2	0	KIAA1199	79028295	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	6.475000	0.73582	1.361000	0.45981	0.650000	0.86243	CCT		0.557	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			129	657	1	0	1.46079e-55	1	1.82622e-55	129	657					A	81241240	C	A	81241240	3	1	79	1	0	0	0	0	1	0	0	0	8243	681	24	3	4171	3	KIAA1199	15	81241240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396203	81241240	21290152	15636	25953											
MESDC1	59274	broad.mit.edu	37	chr15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggggaggcgggggacaGcctggtggagctgggcgacc	21	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(331-333)aGc>aAc		mesoderm development candidate 1							14	13	13					15																	81294944		1995	3889	5884	SO:0001583	missense	59274							g.chr15:81294944G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.332G>A	15.37:g.81294944G>A	ENSP00000267984:p.Ser111Asn						p.S111N	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	1650	+			111						Missense_Mutation	SNP	ENST00000267984.2	37	c.332G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326163	0.41197	.	.	ENSG00000140406	ENST00000267984	T	0.08193	3.12	4.02	4.02	0.46733	.	0.146929	0.45606	U	0.000351	T	0.05318	0.0141	N	0.14661	0.345	0.44181	D	0.996998	B	0.25169	0.119	B	0.24155	0.051	T	0.33214	-0.9877	10	0.56958	D	0.05	-15.6875	8.6701	0.34145	0.0:0.165:0.6648:0.1702	.	111	Q9H1K6	MESD1_HUMAN	N	111	ENSP00000267984:S111N	ENSP00000267984:S111N	S	+	2	0	MESDC1	79081999	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.930000	0.70104	1.935000	0.56089	0.313000	0.20887	AGC		0.721	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		18	107	0	0	0	1	0	18	107					A	81294944	G	A	81294944	3	1	79	1	0	0	0	0	1	0	0	0	9521	971	34	2	334	2	MESDC1	15	81294944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53704	81294944	21236448	15637	25954											
C15orf26	161502	broad.mit.edu	37	chr15	81427610	81427610	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgattttctgtttaGgagctcatgaaagacttctt	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26											endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.e2-1		chromosome 15 open reading frame 26							65	68	67					15																	81427610		1793	4067	5860	SO:0001630	splice_region_variant	161502							g.chr15:81427610G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427610G>T								NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			2	152	+								Q8N906	Splice_Site	SNP	ENST00000286732.4	37		CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026856	0.35797	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf26	79214665	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	.		0.343	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Intron	33	216	1	0	6.70999e-13	1	7.22283e-13	33	216					T	81427610	G	T	81427610	5	4	79	1	0	0	0	0	0	0	1	0	1792	1014	35	3	75	3	C15orf26	15	81427610	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132666	81427610	21103782	15638	25955											
C15orf26	161502	broad.mit.edu	37	chr15	81430434	81430434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtccttagatatgggcaGgacttttgcctggggataac	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(433-435)caG>caA		chromosome 15 open reading frame 26							194	186	188					15																	81430434		1901	4128	6029	SO:0001819	synonymous_variant	161502							g.chr15:81430434G>A	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.435G>A	15.37:g.81430434G>A							p.Q145Q	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			4	518	+			145					Q8N906	Silent	SNP	ENST00000286732.4	37	c.435G>A	CCDS42068.1																																																																																				0.393	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		33	355	0	0	0	1	0	33	355					A	81430434	G	A	81430434	2	1	79	1	0	0	0	0	0	0	0	1	1792	991	35	2		2	C15orf26	15	81430434	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	81430434	21100958	15639	25956											
IL16	3603	broad.mit.edu	37	chr15	81571983	81571983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccacctgtctcccccaCtgtgccgctccctgagctcc	8	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000302987.4	+	7	949	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000394660.2_Silent_p.L317L			Q14005	IL16_HUMAN	interleukin 16	317	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(949-951)Ctg>Ttg		interleukin 16							39	42	41					15																	81571983		1964	4158	6122	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81571983C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.949C>T	15.37:g.81571983C>T						IL16_ENST00000302987.4_Silent_p.L317L	p.L317L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			8	1309	+			317			Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.949C>T	CCDS42069.1																																																																																				0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		49	230	0	0	0	1	0	49	230					T	81571983	C	T	81571983	2	4	79	1	0	0	0	0	0	0	0	1	7663	564	20	2		2	IL16	15	81571983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141549	81571983	20959409	15640	25957											
IL16	3603	broad.mit.edu	37	chr15	81592491	81592491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggcccggacccgctcCtaaggctgctgtcaacacag	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000302987.4	+	13	2824	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000394660.2_Silent_p.L942L|IL16_ENST00000394652.2_Silent_p.L241L			Q14005	IL16_HUMAN	interleukin 16	942				LRL -> PRE (in Ref. 5). {ECO:0000305}.	immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2824-2826)Cta>Tta		interleukin 16							31	35	33					15																	81592491		2203	4300	6503	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592491C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2824C>T	15.37:g.81592491C>T						IL16_ENST00000394652.2_Silent_p.L241L|IL16_ENST00000302987.4_Silent_p.L942L	p.L942L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3184	+			942	LRL -> PRE (in Ref. 4).				A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.2824C>T	CCDS42069.1																																																																																				0.652	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		62	244	0	0	0	1	0	62	244					T	81592491	C	T	81592491	2	4	79	1	0	0	0	0	0	0	0	1	7663	680	24	2		2	IL16	15	81592491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20508	81592491	20938901	15641	25958											
STARD5	80765	broad.mit.edu	37	chr15	81614779	81614779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggataatttcaaaaccGgtcacattctcatcccactt	4	12	3	0	rs142670896	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	RP11-761I4.3_ENST00000560973.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000559781.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	84	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000302824.6																			0				large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						c.(250-252)acC>acT		StAR-related lipid transfer (START) domain containing 5		G		3,4403	6.2+/-15.9	0,3,2200	160	133	142		252	4.5	0	15	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	STARD5	NM_181900.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		84/214	81614779	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81614779G>A	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.252C>T	15.37:g.81614779G>A						STARD5_ENST00000559913.1_5'UTR	p.T84T	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN			3	277	-			84			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.252C>T	CCDS10318.1																																																																																				0.483	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			33	385	0	0	0	1	0	33	385					A	81614779	G	A	81614779	2	1	79	1	0	0	0	0	0	0	0	1	15312	1103	39	1		1	STARD5	15	81614779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22288	81614779	20916613	15642	25959											
TMC3	342125	broad.mit.edu	37	chr15	81625165	81625165	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaaatgaggagcccgacgGaggtctatcagggagcgtgg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000359440.5	-	22	3033	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	TMC3_ENST00000558726.1_Silent_p.L967L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCCCGACGGAGGTCTATCA	0.577																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2899-2901)ctC>ctT		transmembrane channel-like 3							16	17	16					15																	81625165		1851	4074	5925	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625165G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2898C>T	15.37:g.81625165G>A						TMC3_ENST00000359440.5_Silent_p.L966L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.L967L			Q7Z5M5	TMC3_HUMAN			22	3036	-			966						Silent	SNP	ENST00000359440.5	37	c.2901C>T	CCDS45324.1																																																																																				0.577	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		22	97	0	0	0	1	0	22	97					A	81625165	G	A	81625165	2	1	79	1	0	0	0	0	0	0	0	1	16038	1161	41	2		2	TMC3	15	81625165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10386	81625165	20906227	15643	25960											
TMC3	342125	broad.mit.edu	37	chr15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccccactaggaaatacGccaagggcagccggtagcca	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000359440.5	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	TMC3_ENST00000558726.1_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGGAAATACGCCAAGGGCAG	0.458																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(685-687)gCg>gTg		transmembrane channel-like 3							70	74	72					15																	81650547		1919	4111	6030	SO:0001583	missense	342125					integral to membrane		g.chr15:81650547G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.686C>T	15.37:g.81650547G>A	ENSP00000352413:p.Ala229Val					TMC3_ENST00000359440.5_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.A229V			Q7Z5M5	TMC3_HUMAN			7	821	-			229						Missense_Mutation	SNP	ENST00000359440.5	37	c.686C>T	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540252	0.96474	.	.	ENSG00000188869	ENST00000359440	D	0.85629	-2.01	5.64	5.64	0.86602	.	0.275034	0.34725	N	0.003737	D	0.93203	0.7835	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.93632	0.6957	10	0.87932	D	0	-20.1369	19.6883	0.95987	0.0:0.0:1.0:0.0	.	229;229	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	229	ENSP00000352413:A229V	ENSP00000352413:A229V	A	-	2	0	TMC3	79437602	1.000000	0.71417	0.960000	0.40013	0.893000	0.52053	9.005000	0.93587	2.654000	0.90174	0.650000	0.86243	GCG		0.458	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		66	335	0	0	0	1	0	66	335					A	81650547	G	A	81650547	3	1	79	1	0	0	0	0	1	0	0	0	16038	1087	38	1	2680	1	TMC3	15	81650547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25382	81650547	20880845	15644	25961											
TMC3	342125	broad.mit.edu	37	chr15	81666401	81666401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcctctatagcgctgggaTgccttcgaggttttcatggg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000359440.5	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000558726.1_Silent_p.A6A	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCGCTGGGATGCCTTCGAGG	0.547																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(16-18)gcA>gcG		transmembrane channel-like 3							76	76	76					15																	81666401		2050	4204	6254	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81666401T>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.18A>G	15.37:g.81666401T>C						TMC3_ENST00000359440.5_Silent_p.A6A	p.A6A			Q7Z5M5	TMC3_HUMAN			1	153	-			6						Silent	SNP	ENST00000359440.5	37	c.18A>G	CCDS45324.1																																																																																				0.547	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		21	94	0	0	0	1	0	21	94					C	81666401	T	C	81666401	2	2	79	1	0	0	0	0	0	0	0	1	16038	1451	51	4		4	TMC3	15	81666401	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15854	81666401	20864991	15645	25962											
MEX3B	84206	broad.mit.edu	37	chr15	82335561	82335561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccgggcactcgggctcGctcttctcacagatgcgatt	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	550					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1648-1650)agC>agT		mex-3 RNA binding family member B							56	55	55					15																	82335561		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335561G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1650C>T	15.37:g.82335561G>A						MEX3B_ENST00000558133.1_3'UTR	p.S550S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	2085	-			550					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.1650C>T	CCDS10319.1																																																																																				0.627	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		17	441	0	0	0	1	0	17	441					A	82335561	G	A	82335561	2	1	79	1	0	0	0	0	0	0	0	1	9551	1078	38	1		1	MEX3B	15	82335561	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669160	82335561	20195831	15646	25963											
MEX3B	84206	broad.mit.edu	37	chr15	82335787	82335787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcccccagcccgttgGcataagcggcgtaggccagg	15	14	0	0	rs369068173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	ENST00000329713.4	-	2	1859	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	475					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAGCCCGTTGGCATAAGCGGC	0.697																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1423-1425)gCc>gTc		mex-3 RNA binding family member B		G	VAL/ALA	1,4311		0,1,2155	23	22	22		1424	4.5	1	15		22	0,8450		0,0,4225	no	missense	MEX3B	NM_032246.3	64	0,1,6380	AA,AG,GG		0.0,0.0232,0.0078	benign	475/570	82335787	1,12761	2156	4225	6381	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335787G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1424C>T	15.37:g.82335787G>A	ENSP00000329918:p.Ala475Val					MEX3B_ENST00000558133.1_3'UTR	p.A475V	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1859	-			475					Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.1424C>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	2.32E-4	0.0	ENSG00000183496	ENST00000329713	T	0.23950	1.88	4.5	4.5	0.54988	.	0.375112	0.23532	N	0.047161	T	0.14614	0.0353	N	0.08118	0	0.80722	D	1	B	0.25007	0.116	B	0.24006	0.05	T	0.10567	-1.0624	10	0.23302	T	0.38	-13.7427	16.1323	0.81449	0.0:0.0:1.0:0.0	.	475	Q6ZN04	MEX3B_HUMAN	V	475	ENSP00000329918:A475V	ENSP00000329918:A475V	A	-	2	0	MEX3B	80122842	0.998000	0.40836	0.998000	0.56505	0.614000	0.37383	4.819000	0.62664	2.333000	0.79357	0.561000	0.74099	GCC		0.697	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		8	47	0	0	0	1	0	8	47					A	82335787	G	A	82335787	3	1	79	1	0	0	0	0	1	0	0	0	9551	1203	42	2	289	2	MEX3B	15	82335787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	82335787	20195605	15647	25964											
MEX3B	84206	broad.mit.edu	37	chr15	82336392	82336392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcggccgggggtgggCgtgatgctgggggtgggctt	24	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82336392C>T	ENST00000329713.4	-	2	1254	c.819G>A	c.(817-819)acG>acA	p.T273T	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	273					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGGGGGTGGGCGTGATGCTGG	0.652																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(817-819)acG>acA		mex-3 RNA binding family member B							21	25	23					15																	82336392		2197	4286	6483	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336392C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.819G>A	15.37:g.82336392C>T						MEX3B_ENST00000558133.1_3'UTR	p.T273T	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1254	-			273					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.819G>A	CCDS10319.1																																																																																				0.652	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		11	271	0	0	0	1	0	11	271					T	82336392	C	T	82336392	2	4	79	1	0	0	0	0	0	0	0	1	9551	755	27	1		1	MEX3B	15	82336392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	82336392	20195000	15648	25965											
EFTUD1	79631	broad.mit.edu	37	chr15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattgaccatgtcaacTtttgggggttttgtgattgt	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	701					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2101-2103)aaA>aaC		elongation factor Tu GTP binding domain containing 1							147	147	147					15																	82444692		1830	4087	5917	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82444692T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2103A>C	15.37:g.82444692T>G	ENSP00000268206:p.Lys701Asn					EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	p.K701N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			18	2271	-			701					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.2103A>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.73	3.43	0.39272	Ribosomal protein S5 domain 2-type fold (1);	0.157020	0.28766	N	0.014218	T	0.24509	0.0594	N	0.10809	0.05	0.58432	D	0.999998	P;P	0.52692	0.954;0.955	P;P	0.58928	0.848;0.839	T	0.03034	-1.1080	10	0.37606	T	0.19	-7.7117	10.1789	0.42955	0.0:0.135:0.0:0.865	.	650;701	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	701;650	ENSP00000268206:K701N;ENSP00000352418:K650N	ENSP00000268206:K701N	K	-	3	2	EFTUD1	80231747	1.000000	0.71417	0.749000	0.31150	0.988000	0.76386	1.473000	0.35387	0.445000	0.26639	-0.400000	0.06385	AAA		0.358	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		126	649	0	0	0	1	0	126	649					G	82444692	T	G	82444692	3	3	79	1	0	0	0	0	1	0	0	0	4976	1606	56	4	1271	4	EFTUD1	15	82444692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108300	82444692	20086700	15649	25966											
EFTUD1	79631	broad.mit.edu	37	chr15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctgttctaaaataTtcttgaggtgagaataggcc	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	168	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(502-504)aAt>aCt		elongation factor Tu GTP binding domain containing 1							36	32	33					15																	82532772		1790	4067	5857	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82532772T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.503A>C	15.37:g.82532772T>G	ENSP00000268206:p.Asn168Thr					EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	p.N168T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			6	671	-			168					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.503A>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006488	0.54361	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75938	-0.98;-0.98	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (1);	0.102941	0.40302	U	0.001139	T	0.64238	0.2580	N	0.26162	0.8	0.44899	D	0.997911	B;B	0.32693	0.38;0.142	B;B	0.36030	0.205;0.216	T	0.68435	-0.5409	10	0.66056	D	0.02	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	117;168	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	168;117	ENSP00000268206:N168T;ENSP00000352418:N117T	ENSP00000268206:N168T	N	-	2	0	EFTUD1	80319827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	1.804000	0.52760	0.438000	0.28831	AAT		0.373	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		10	75	0	0	0	1	0	10	75					G	82532772	T	G	82532772	3	3	79	1	0	0	0	0	1	0	0	0	4976	1493	52	4	2919	4	EFTUD1	15	82532772	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88080	82532772	19998620	15650	25967											
FAM154B	283726	broad.mit.edu	37	chr15	82555261	82555261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtgtctgtgtcagaTttgtagctgcgggtaagaaa	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000339465.5	+	1	110	c.41T>G	c.(40-42)aTt>aGt	p.I14S	FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|EFTUD1_ENST00000268206.7_5'Flank|EFTUD1_ENST00000359445.3_5'Flank	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	14										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642																																						ENST00000427381.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19								family with sequence similarity 154, member B							112	103	106					15																	82555261		2201	4300	6501	SO:0001583	missense	283726							g.chr15:82555261T>G	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.41T>G	15.37:g.82555261T>G	ENSP00000340445:p.Ile14Ser					FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000339465.5_Missense_Mutation_p.I14S				Q658L1	F154B_HUMAN			0	70	+								B4E2M2	Translation_Start_Site	SNP	ENST00000339465.5	37		CCDS32310.1	.	.	.	.	.	.	.	.	.	.	T	9.312	1.055836	0.19907	.	.	ENSG00000188659	ENST00000339465	T	0.17528	2.27	3.22	3.22	0.36961	.	0.162599	0.37095	U	0.002253	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14337	-1.0476	10	0.59425	D	0.04	-10.1081	11.6085	0.51045	0.0:0.0:0.0:1.0	.	14	Q658L1	F154B_HUMAN	S	14	ENSP00000340445:I14S	ENSP00000340445:I14S	I	+	2	0	FAM154B	80342316	1.000000	0.71417	0.990000	0.47175	0.342000	0.28953	4.568000	0.60857	1.480000	0.48289	0.172000	0.16884	ATT		0.642	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		10	62	0	0	0	1	0	10	62					G	82555261	T	G	82555261	3	3	79	1	0	0	0	0	1	0	0	0	5485	1493	52	4	43	4	FAM154B	15	82555261	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22489	82555261	19976131	15651	25968											
AP3B2	8120	broad.mit.edu	37	chr15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggaagggacgatgaGctgccgggtgaagcgcgccc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000261722.3	-	15	1960	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	585					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1753-1755)Ctc>Atc		adaptor-related protein complex 3, beta 2 subunit							61	68	66					15																	83335598		1955	4134	6089	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335598G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1753C>A	15.37:g.83335598G>T	ENSP00000261722:p.Leu585Ile					AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I	p.L585I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1960	-			585					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1753C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662158	0.88251	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52266	1.64	0.80722	D	1	D;P;P	0.56968	0.978;0.756;0.859	P;P;P	0.53006	0.715;0.456;0.679	T	0.15263	-1.0443	10	0.35671	T	0.21	-24.1255	15.1021	0.72288	0.068:0.0:0.932:0.0	.	553;585;585	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	585;553;585	ENSP00000261722:L585I;ENSP00000438721:L553I;ENSP00000440984:L585I	ENSP00000261722:L585I	L	-	1	0	AP3B2	81132653	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.838000	0.99474	1.475000	0.48197	0.655000	0.94253	CTC		0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			74	372	1	0	3.78398e-24	1	4.31794e-24	74	372					T	83335598	G	T	83335598	3	4	79	1	0	0	0	0	1	0	0	0	745	971	34	3	1543	3	AP3B2	15	83335598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	780337	83335598	19195794	15652	25969											
AP3B2	8120	broad.mit.edu	37	chr15	83346884	83346884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtaggacagtaggaatGttggtctcattggccaggtt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535348.1_Silent_p.N374N|AP3B2_ENST00000535359.1_Silent_p.N406N|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1216-1218)aaC>aaT		adaptor-related protein complex 3, beta 2 subunit							51	49	50					15																	83346884		1943	4146	6089	SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346884G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1218C>T	15.37:g.83346884G>A						AP3B2_ENST00000535348.1_Silent_p.N374N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.N406N	p.N406N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		11	1425	-			406					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	c.1218C>T	CCDS45331.1																																																																																				0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			26	100	0	0	0	1	0	26	100					A	83346884	G	A	83346884	2	1	79	1	0	0	0	0	0	0	0	1	745	1368	48	2		2	AP3B2	15	83346884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11286	83346884	19184508	15653	25970											
FSD2	123722	broad.mit.edu	37	chr15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggatttatgactggagcaGaaggagctaggaaaagaaaa	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000334574.8	-	7	1299	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	373										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(1117-1119)tCt>tAt		fibronectin type III and SPRY domain containing 2							42	42	42					15																	83440974		1882	4124	6006	SO:0001583	missense	123722							g.chr15:83440974G>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1118C>A	15.37:g.83440974G>T	ENSP00000335651:p.Ser373Tyr					FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y	p.S373Y			A1L4K1	FSD2_HUMAN			7	1299	-			373			Fibronectin type-III 1.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.1118C>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508891	0.64410	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.58797	0.31;1.7	5.42	4.45	0.53987	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057505	0.64402	D	0.000001	T	0.72779	0.3503	M	0.62723	1.935	0.43852	D	0.996446	D;D	0.76494	0.987;0.999	P;D	0.74348	0.883;0.983	T	0.75733	-0.3214	10	0.66056	D	0.02	-20.8773	16.226	0.82293	0.0:0.1776:0.8224:0.0	.	373;373	B7ZM02;A1L4K1	.;FSD2_HUMAN	Y	373	ENSP00000335651:S373Y;ENSP00000444078:S373Y	ENSP00000335651:S373Y	S	-	2	0	FSD2	81238028	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.199000	0.51043	2.525000	0.85131	0.561000	0.74099	TCT		0.498	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		19	54	1	0	5.03518e-11	1	5.3609e-11	19	54					T	83440974	G	T	83440974	3	4	79	1	0	0	0	0	1	0	0	0	6098	942	33	3	1159	3	FSD2	15	83440974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94090	83440974	19090418	15654	25971											
WHAMM	123720	broad.mit.edu	37	chr15	83478510	83478510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctgacagcctggaggGctgggtgccggtccgggagg	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	ENST00000286760.4	+	1	131	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	11	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGCCTGGAGGGCTGGGTGCCG	0.736																																						ENST00000286760.4																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(31-33)gGc>gAc		WAS protein homolog associated with actin, golgi membranes and microtubules							6	7	6					15																	83478510		1597	3593	5190	SO:0001583	missense	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83478510G>A	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.32G>A	15.37:g.83478510G>A	ENSP00000286760:p.Gly11Asp						p.G11D	NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN			1	131	+			11					Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	c.32G>A	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131709	0.94473	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09255	3.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00521	-1.1691	10	0.52906	T	0.07	.	18.2166	0.89887	0.0:0.0:1.0:0.0	.	11	Q8TF30	WHAMM_HUMAN	D	11	ENSP00000286760:G11D	ENSP00000234505:G11D	G	+	2	0	WHAMM	81275564	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.840000	0.75369	2.547000	0.85894	0.585000	0.79938	GGC		0.736	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			12	53	0	0	0	1	0	12	53					A	83478510	G	A	83478510	3	1	79	1	0	0	0	0	1	0	0	0	17415	1203	42	2	34	2	WHAMM	15	83478510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37536	83478510	19052882	15655	25972											
SH3GL3	6457	broad.mit.edu	37	chr15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgagggcaggtgaagaCcacaggatacccgcagacgg	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000427482.2	+	4	554	c.248C>T	c.(247-249)aCc>aTc	p.T83I	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T91I|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	83	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				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)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(271-273)aCc>aTc		SH3-domain GRB2-like 3							86	86	86					15																	84237341		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237341C>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.248C>T	15.37:g.84237341C>T	ENSP00000391372:p.Thr83Ile					SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T83I	p.T91I			Q99963	SH3G3_HUMAN			7	764	+			83			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.272C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888960	0.33348	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.86	2.82	0.32997	BAR (3);	0.420176	0.25997	N	0.026979	T	0.28928	0.0718	L	0.57536	1.79	0.38708	D	0.953143	B;B;B	0.28820	0.224;0.054;0.076	B;B;B	0.28305	0.088;0.064;0.084	T	0.18903	-1.0322	10	0.38643	T	0.18	-25.1471	11.2328	0.48923	0.1415:0.7217:0.1368:0.0	.	83;83;91	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	83;83;91;91	ENSP00000391372:T83I;ENSP00000439239:T83I;ENSP00000320092:T91I;ENSP00000397871:T91I	ENSP00000320092:T91I	T	+	2	0	SH3GL3	82028345	0.427000	0.25514	0.844000	0.33320	0.876000	0.50452	0.547000	0.23299	1.148000	0.42385	0.544000	0.68410	ACC		0.468	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		62	347	0	0	0	1	0	62	347					T	84237341	C	T	84237341	3	4	79	1	0	0	0	0	1	0	0	0	14302	507	18	2	262	2	SH3GL3	15	84237341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758831	84237341	18294051	15656	25973											
SH3GL3	6457	broad.mit.edu	37	chr15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatccagtgtccccagaCgagaatacaagccaaggcct	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC. {ECO:0000250}.				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)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(781-783)Cga>Tga		SH3-domain GRB2-like 3							131	96	108					15																	84257442		2203	4300	6503	SO:0001587	stop_gained	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257442C>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.757C>T	15.37:g.84257442C>T	ENSP00000391372:p.Arg253*					SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000427482.2_Nonsense_Mutation_p.R253*	p.R261*			Q99963	SH3G3_HUMAN			11	1273	+			253					O43553|O43554	Nonsense_Mutation	SNP	ENST00000427482.2	37	c.781C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA		0.458	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		29	162	0	0	0	1	0	29	162					T	84257442	C	T	84257442	4	4	79	1	0	0	0	0	0	1	0	0	14302	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20101	84257442	18273950	15657	25974											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84539609	84539609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagctttaacagcccCggcgtctttctcgtagaaaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	286						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(856-858)ccC>ccT		ADAMTS-like 3							56	62	60					15																	84539609		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84539609C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.858C>T	15.37:g.84539609C>T						ADAMTSL3_ENST00000567476.1_Silent_p.P286P	p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1082	+			286					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.858C>T	CCDS10326.1																																																																																				0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		66	253	0	0	0	1	0	66	253					T	84539609	C	T	84539609	2	4	79	1	0	0	0	0	0	0	0	1	276	639	23	1		1	ADAMTSL3	15	84539609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282167	84539609	17991783	15658	25975											
WDR73	84942	broad.mit.edu	37	chr15	85186746	85186746	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccacacatgcagagaGgcatcatttgttgctgataa	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85186746G>T	ENST00000434634.2	-	8	1152	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	364										cervix(1)|large_intestine(1)|lung(1)	3						CATGCAGAGAGGCATCATTTG	0.542																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(1090-1092)gcC>gcA		WD repeat domain 73							96	106	103					15																	85186746		2170	4286	6456	SO:0001819	synonymous_variant	84942							g.chr15:85186746G>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1092C>A	15.37:g.85186746G>T						WDR73_ENST00000398528.3_5'UTR	p.A364A	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			8	1152	-			364					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.1092C>A	CCDS45339.1																																																																																				0.542	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	43	1	0	8.12818e-05	1	8.2724e-05	6	43					T	85186746	G	T	85186746	2	4	79	1	0	0	0	0	0	0	0	1	17377	987	35	3		3	WDR73	15	85186746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647137	85186746	17344646	15659	25976											
WDR73	84942	broad.mit.edu	37	chr15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttagatcaaagatagacCtgtctgaaaatcctccatgg	8	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(250-252)aGg>aAg		WD repeat domain 73							165	164	164					15																	85191804		1942	4136	6078	SO:0001583	missense	84942							g.chr15:85191804C>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.251G>A	15.37:g.85191804C>T	ENSP00000387982:p.Arg84Lys					WDR73_ENST00000398528.3_5'UTR	p.R84K	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			4	311	-			84					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.251G>A	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432820	0.25813	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28454	1.61	5.91	0.265	0.15612	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.613293	0.17647	N	0.166813	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.14172	-1.0482	10	0.45353	T	0.12	-11.0667	4.9785	0.14153	0.0:0.4561:0.1674:0.3765	.	84;84	B4DI20;Q6P4I2	.;WDR73_HUMAN	K	92;84	ENSP00000387982:R84K	ENSP00000381539:R92K	R	-	2	0	WDR73	82992808	0.000000	0.05858	0.009000	0.14445	0.936000	0.57629	0.010000	0.13242	0.089000	0.17243	0.655000	0.94253	AGG		0.453	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		79	487	0	0	0	1	0	79	487					T	85191804	C	T	85191804	3	4	79	1	0	0	0	0	1	0	0	0	17377	681	24	2	905	2	WDR73	15	85191804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5058	85191804	17339588	15660	25977											
ZNF592	9640	broad.mit.edu	37	chr15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacacaaaggatctctcagGgcccactaaagagagttcta	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000560079.2	+	4	1226	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	313					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCTCTCAGGGCCCACTAAA	0.537																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(937-939)gGg>gTg		zinc finger protein 592							61	69	67					15																	85326844		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326844G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.938G>T	15.37:g.85326844G>T	ENSP00000452877:p.Gly313Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.G313V	p.G313V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	960	+			313					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.938G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023302	0.19433	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.65	3.78	0.43462	.	0.236852	0.42682	D	0.000680	T	0.00412	0.0013	N	0.12182	0.205	0.53688	D	0.999975	P	0.42518	0.782	B	0.36378	0.223	D	0.85856	0.1407	10	0.37606	T	0.19	-30.6874	9.883	0.41245	0.1648:0.0:0.8352:0.0	.	313	Q92610	ZN592_HUMAN	V	313	ENSP00000299927:G313V	ENSP00000299927:G313V	G	+	2	0	ZNF592	83127848	0.731000	0.28111	1.000000	0.80357	0.942000	0.58702	1.042000	0.30303	1.393000	0.46605	0.655000	0.94253	GGG		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		88	430	1	0	3.99893e-49	1	4.94408e-49	88	430					T	85326844	G	T	85326844	3	4	79	1	0	0	0	0	1	0	0	0	18075	1232	43	3	940	3	ZNF592	15	85326844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135040	85326844	17204548	15661	25978											
ZNF592	9640	broad.mit.edu	37	chr15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caagcctccagtcttcagcgGacacatcctcaagccgccct	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000560079.2	+	8	3082	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	932					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCTTCAGCGGACACATCCTC	0.622																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(2794-2796)Gac>Tac		zinc finger protein 592							43	45	44					15																	85341876		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85341876G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2794G>T	15.37:g.85341876G>T	ENSP00000452877:p.Asp932Tyr					ZNF592_ENST00000560079.2_Missense_Mutation_p.D932Y	p.D932Y			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2816	+			932					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.2794G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092952	0.36952	.	.	ENSG00000166716	ENST00000299927	T	0.00622	6.16	4.75	4.75	0.60458	.	0.330880	0.31721	N	0.007167	T	0.01627	0.0052	L	0.32530	0.975	0.37890	D	0.930687	D	0.63880	0.993	P	0.59487	0.858	T	0.73294	-0.4028	10	0.59425	D	0.04	-27.3243	15.2915	0.73870	0.0:0.0:1.0:0.0	.	932	Q92610	ZN592_HUMAN	Y	932	ENSP00000299927:D932Y	ENSP00000299927:D932Y	D	+	1	0	ZNF592	83142880	0.996000	0.38824	0.621000	0.29145	0.235000	0.25334	5.113000	0.64640	2.439000	0.82584	0.655000	0.94253	GAC		0.622	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		48	213	1	0	5.73435e-26	1	6.59582e-26	48	213					T	85341876	G	T	85341876	3	4	79	1	0	0	0	0	1	0	0	0	18075	1174	41	3	2812	3	ZNF592	15	85341876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15032	85341876	17189516	15662	25979											
ALPK3	57538	broad.mit.edu	37	chr15	85382963	85382963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgccgccatctaccaGgcctctgcccagaacagcaa	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85382963G>A	ENST00000258888.5	+	5	1226	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	353	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCATCTACCAGGCCTCTGCCC	0.627																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1057-1059)caG>caA		alpha-kinase 3							80	73	75					15																	85382963		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382963G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1059G>A	15.37:g.85382963G>A							p.Q353Q	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1226	+			353			Ig-like 1.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1059G>A	CCDS10333.1																																																																																				0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	429	0	0	0	1	0	7	429					A	85382963	G	A	85382963	2	1	79	1	0	0	0	0	0	0	0	1	546	991	35	2		2	ALPK3	15	85382963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41087	85382963	17148429	15663	25980											
ALPK3	57538	broad.mit.edu	37	chr15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggctcctggggtcctgGtcccagctccctcactgtcc	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1267					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGTCCTGGTCCCAGCTCC	0.682																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3799-3801)gGt>gAt		alpha-kinase 3							19	15	16					15																	85401163		2200	4290	6490	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401163G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3800G>A	15.37:g.85401163G>A	ENSP00000258888:p.Gly1267Asp						p.G1267D	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3967	+			1267					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3800G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896135	0.17686	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	4.87	-0.919	0.10478	.	1.130040	0.06420	N	0.722229	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.35051	-0.9804	10	0.07644	T	0.81	-1.6914	1.0785	0.01638	0.1812:0.1478:0.3685:0.3026	.	1267	Q96L96	ALPK3_HUMAN	D	1267	ENSP00000258888:G1267D	ENSP00000258888:G1267D	G	+	2	0	ALPK3	83202167	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-0.367000	0.07553	0.107000	0.17824	0.563000	0.77884	GGT		0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		19	88	0	0	0	1	0	19	88					A	85401163	G	A	85401163	3	1	79	1	0	0	0	0	1	0	0	0	546	1261	44	2	3822	2	ALPK3	15	85401163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18200	85401163	17130229	15664	25981											
ALPK3	57538	broad.mit.edu	37	chr15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtcttactgttctcggGaatggggctgtgctgaggct	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1736	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTTCTCGGGAATGGGGCTG	0.547																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(5206-5208)Gaa>Aaa		alpha-kinase 3							110	96	101					15																	85407773		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407773G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5206G>A	15.37:g.85407773G>A	ENSP00000258888:p.Glu1736Lys						p.E1736K	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5373	+			1736			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5206G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678367	0.88542	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	5.62	4.69	0.59074	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.642960	0.15699	N	0.249015	T	0.09247	0.0228	N	0.22421	0.69	0.28334	N	0.921641	B;P	0.40534	0.437;0.72	B;P	0.47118	0.257;0.538	T	0.08126	-1.0737	10	0.72032	D	0.01	-1.4623	13.9844	0.64324	0.0:0.1588:0.8412:0.0	.	37;1736	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1736	ENSP00000258888:E1736K	ENSP00000258888:E1736K	E	+	1	0	ALPK3	83208777	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	3.720000	0.54933	1.335000	0.45486	0.563000	0.77884	GAA		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		78	362	0	0	0	1	0	78	362					A	85407773	G	A	85407773	3	1	79	1	0	0	0	0	1	0	0	0	546	1175	41	2	5252	2	ALPK3	15	85407773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6610	85407773	17123619	15665	25982											
SLC28A1	9154	broad.mit.edu	37	chr15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcggcctgagcaacTggtgtccttcgcaggaatct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000286749.3	+	6	626	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	179					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCTGAGCAACTGGTGTCCTTC	0.587																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(535-537)cTg>cGg		solute carrier family 28 (concentrative nucleoside transporter), member 1							179	149	159					15																	85447402		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85447402T>G	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.536T>G	15.37:g.85447402T>G	ENSP00000286749:p.Leu179Arg					SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R	p.L179R	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	738	+			179					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.536T>G	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953784	0.34471	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.38	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.993;1.0	T	0.53208	-0.8471	10	0.87932	D	0	-0.008	6.4798	0.22057	0.0:0.1088:0.0:0.8912	.	179;179;179;101;179	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	179;179;179;179;179;101	ENSP00000440546:L179R;ENSP00000443752:L179R;ENSP00000444700:L179R;ENSP00000286749:L179R;ENSP00000378074:L179R;ENSP00000443764:L101R	ENSP00000286749:L179R	L	+	2	0	SLC28A1	83248406	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.495000	0.66912	0.753000	0.32945	-0.256000	0.11100	CTG		0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			12	490	0	0	0	1	0	12	490					G	85447402	T	G	85447402	3	3	79	1	0	0	0	0	1	0	0	0	14581	1580	55	4	625	4	SLC28A1	15	85447402	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39629	85447402	17083990	15666	25983											
SLC28A1	9154	broad.mit.edu	37	chr15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgccgcctggcaggggCcgaggagtgggtcggcgaca	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000286749.3	+	14	1634	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	515					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGGCAGGGGCCGAGGAGTGG	0.617																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1543-1545)gCc>gTc		solute carrier family 28 (concentrative nucleoside transporter), member 1							107	102	104					15																	85478712		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478712C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1544C>T	15.37:g.85478712C>T	ENSP00000286749:p.Ala515Val					SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A515V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V	p.A515V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1746	+			515					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1544C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902119	0.02453	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01933	4.55;4.66;4.69;4.69	5.19	-7.83	0.01201	Na dependent nucleoside transporter, C-terminal (1);	1.306430	0.04674	N	0.411195	T	0.01189	0.0039	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.47749	-0.9093	10	0.15952	T	0.53	-16.176	15.5491	0.76133	0.0:0.3386:0.0:0.6614	.	515;515;515	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	515	ENSP00000440546:A515V;ENSP00000444700:A515V;ENSP00000286749:A515V;ENSP00000378074:A515V	ENSP00000286749:A515V	A	+	2	0	SLC28A1	83279716	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.457000	0.06745	-1.555000	0.01697	-1.360000	0.01215	GCC		0.617	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			28	707	0	0	0	1	0	28	707					T	85478712	C	T	85478712	3	4	79	1	0	0	0	0	1	0	0	0	14581	739	26	2	1665	2	SLC28A1	15	85478712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31310	85478712	17052680	15667	25984											
SLC28A1	9154	broad.mit.edu	37	chr15	85488368	85488368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagcgtcaatccagaGttcagcccagaggccctgga	10	12	2	2	rs376019418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000286749.3	+	18	1977	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000394573.1_Silent_p.E629E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	629					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCAATCCAGAGTTCAGCCCAG	0.557																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1885-1887)gaG>gaA		solute carrier family 28 (concentrative nucleoside transporter), member 1		G		1,4405	2.1+/-5.4	0,1,2202	145	127	133		1887	1.2	0	15		133	0,8598		0,0,4299	no	coding-synonymous	SLC28A1	NM_004213.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		629/650	85488368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488368G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1887G>A	15.37:g.85488368G>A						SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000286749.3_Silent_p.E629E|SLC28A1_ENST00000537216.1_Intron	p.E629E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		19	2089	+			629					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1887G>A	CCDS10334.1																																																																																				0.557	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			24	240	0	0	0	1	0	24	240					A	85488368	G	A	85488368	2	1	79	1	0	0	0	0	0	0	0	1	14581	1020	36	2		2	SLC28A1	15	85488368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9656	85488368	17043024	15668	25985											
PDE8A	5151	broad.mit.edu	37	chr15	85610412	85610412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacagaaatcctcgacaGctggatgcagaggcactgtg	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	137					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATCCTCGACAGCTGGATGCAG	0.458																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(409-411)caG>caA		phosphodiesterase 8A							109	92	98					15																	85610412		2203	4299	6502	SO:0001819	synonymous_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85610412G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.411G>A	15.37:g.85610412G>A						PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q|PDE8A_ENST00000339708.5_Silent_p.Q137Q	p.Q137Q			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		4	663	+	Colorectal(223;0.227)		137					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.411G>A	CCDS10336.1																																																																																				0.458	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		58	293	0	0	0	1	0	58	293					A	85610412	G	A	85610412	2	1	79	1	0	0	0	0	0	0	0	1	11695	962	34	2		2	PDE8A	15	85610412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122044	85610412	16920980	15669	25986											
PDE8A	5151	broad.mit.edu	37	chr15	85652283	85652283	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttatcatttgtttctacaGataatcagacaggcaaacat	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGTTTCTACAGATAATCAGAC	0.348																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.e13-1		phosphodiesterase 8A							95	94	95					15																	85652283		2203	4299	6502	SO:0001630	splice_region_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85652283G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1037-1G>A	15.37:g.85652283G>A						PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site				O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		13	1288	+	Colorectal(223;0.227)							B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Splice_Site	SNP	ENST00000310298.4	37		CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457121	0.63401	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6931	0.62559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8A	83453287	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.295000	0.89937	2.074000	0.62210	0.514000	0.50259	.		0.348	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	Intron	47	243	0	0	0	1	0	47	243					A	85652283	G	A	85652283	5	1	79	1	0	0	0	0	0	0	1	0	11695	956	33	2	1082	2	PDE8A	15	85652283	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41871	85652283	16879109	15670	25987											
PDE8A	5151	broad.mit.edu	37	chr15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttatcaggatggtttgCgaagactatcagggaatgaa	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	454					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGATGGTTTGCGAAGACTATC	0.358																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1360-1362)Cga>Tga		phosphodiesterase 8A							133	129	130					15																	85658679		2202	4299	6501	SO:0001587	stop_gained	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85658679C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1360C>T	15.37:g.85658679C>T	ENSP00000311453:p.Arg454*					PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*	p.R454*			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		16	1612	+	Colorectal(223;0.227)		454					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Nonsense_Mutation	SNP	ENST00000310298.4	37	c.1360C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	39	7.550329	0.98352	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	5.66	2.66	0.31614	.	0.068745	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5494	0.45079	0.1405:0.5885:0.271:0.0	.	.	.	.	X	454;454;408	.	ENSP00000311453:R454X	R	+	1	2	PDE8A	83459683	0.953000	0.32496	0.686000	0.30086	0.798000	0.45092	2.016000	0.40971	0.288000	0.22398	-0.176000	0.13171	CGA		0.358	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		21	135	0	0	0	1	0	21	135					T	85658679	C	T	85658679	4	4	79	1	0	0	0	0	0	1	0	0	11695	760	27	1	1418	1	PDE8A	15	85658679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	85658679	16872713	15671	25988											
AKAP13	11214	broad.mit.edu	37	chr15	86076846	86076846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaacagtgaaggtgcaGctctgtgcttccaaagaggg	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86076846G>T	ENST00000394518.2	+	4	308	c.213G>T	c.(211-213)caG>caT	p.Q71H	AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAAGGTGCAGCTCTGTGCTT	0.468																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(211-213)caG>caT		A kinase (PRKA) anchor protein 13							142	127	132					15																	86076846		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076846G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.213G>T	15.37:g.86076846G>T	ENSP00000378026:p.Gln71His					AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H	p.Q71H	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			4	308	+			71					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.213G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460328	0.63401	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59502	0.26;0.26	5.67	3.73	0.42828	.	.	.	.	.	T	0.42040	0.1185	N	0.08118	0	0.80722	D	1	P;P;D	0.53885	0.85;0.907;0.963	B;B;P	0.50136	0.258;0.443;0.632	T	0.39702	-0.9601	9	0.62326	D	0.03	.	6.3501	0.21370	0.1609:0.2851:0.554:0.0	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	H	71;71;70;70	ENSP00000354718:Q71H;ENSP00000378026:Q71H	ENSP00000354718:Q71H	Q	+	3	2	AKAP13	83877850	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.880000	0.28159	0.798000	0.33994	0.655000	0.94253	CAG		0.468	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	406	1	0	3.73148e-12	1	3.99992e-12	28	406					T	86076846	G	T	86076846	3	4	79	1	0	0	0	0	1	0	0	0	449	962	34	3	223	3	AKAP13	15	86076846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418167	86076846	16454546	15672	25989											
AKAP13	11214	broad.mit.edu	37	chr15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttccctggatggtaacaAacctgctgagtcttcacttg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	547					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGTAACAAACCTGCTGAG	0.488																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(1639-1641)aAa>aGa		A kinase (PRKA) anchor protein 13							88	94	92					15																	86122939		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122939A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1640A>G	15.37:g.86122939A>G	ENSP00000378026:p.Lys547Arg					AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	p.K547R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	1735	+			547					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1640A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567026	0.65651	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.88;2.88	5.87	-8.0	0.01126	.	.	.	.	.	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.41945	-0.9480	9	0.21540	T	0.41	.	5.7191	0.17976	0.2046:0.5528:0.1386:0.1039	.	547;547	Q12802;Q12802-2	AKP13_HUMAN;.	R	547;547;546;546	ENSP00000354718:K547R;ENSP00000378026:K547R	ENSP00000354718:K547R	K	+	2	0	AKAP13	83923943	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-2.079000	0.01369	-1.133000	0.02903	0.533000	0.62120	AAA		0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		112	503	0	0	0	1	0	112	503					G	86122939	A	G	86122939	3	3	79	1	0	0	0	0	1	0	0	0	449	14	1	4	1662	4	AKAP13	15	86122939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46093	86122939	16408453	15673	25990											
AKAP13	11214	broad.mit.edu	37	chr15	86124899	86124899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccccacagacatggaGctctcagcccatgatgatgg	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	AKAP13_ENST00000361243.2_Silent_p.E1200E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1200					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGACATGGAGCTCTCAGCCC	0.587																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3598-3600)gaG>gaA		A kinase (PRKA) anchor protein 13							57	55	55					15																	86124899		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124899G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3600G>A	15.37:g.86124899G>A						AKAP13_ENST00000361243.2_Silent_p.E1200E	p.E1200E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3695	+			1200					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3600G>A	CCDS32319.1																																																																																				0.587	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	231	0	0	0	1	0	7	231					A	86124899	G	A	86124899	2	1	79	1	0	0	0	0	0	0	0	1	449	962	34	2		2	AKAP13	15	86124899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1960	86124899	16406493	15674	25991											
AKAP13	11214	broad.mit.edu	37	chr15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaacaagtcaaggccgctgGagcactgcttactgaggggg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1267					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGCCGCTGGAGCACTGCTT	0.552																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3799-3801)gGa>gAa		A kinase (PRKA) anchor protein 13							58	55	56					15																	86125099		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86125099G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3800G>A	15.37:g.86125099G>A	ENSP00000378026:p.Gly1267Glu					AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E	p.G1267E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3895	+			1267					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3800G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818539	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13538	2.58;2.58	5.53	1.48	0.22813	.	.	.	.	.	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.24258	0.1;0.05	B;B	0.26770	0.033;0.073	T	0.32481	-0.9905	9	0.38643	T	0.18	.	4.7716	0.13158	0.2482:0.1669:0.5849:0.0	.	1267;1267	Q12802;Q12802-2	AKP13_HUMAN;.	E	1267;1267;1266;1266	ENSP00000354718:G1267E;ENSP00000378026:G1267E	ENSP00000354718:G1267E	G	+	2	0	AKAP13	83926103	0.394000	0.25246	0.009000	0.14445	0.004000	0.04260	0.557000	0.23454	0.652000	0.30806	0.655000	0.94253	GGA		0.552	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		42	172	0	0	0	1	0	42	172					A	86125099	G	A	86125099	3	1	79	1	0	0	0	0	1	0	0	0	449	1174	41	2	3822	2	AKAP13	15	86125099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	86125099	16406293	15675	25992											
AKAP13	11214	broad.mit.edu	37	chr15	86225399	86225399	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctagattcacggccCttccacagtaccttccacaa	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86225399C>A	ENST00000394518.2	+	15	5207	c.5112C>A	c.(5110-5112)ccC>ccA	p.P1704P	AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1704					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCACGGCCCTTCCACAGTA	0.333																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5110-5112)ccC>ccA		A kinase (PRKA) anchor protein 13							110	102	105					15																	86225399		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86225399C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5112C>A	15.37:g.86225399C>A						AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR	p.P1704P	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			15	5207	+			1704					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5112C>A	CCDS32319.1																																																																																				0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		8	289	1	0	2.17888e-05	1	2.22852e-05	8	289					A	86225399	C	A	86225399	2	1	79	1	0	0	0	0	0	0	0	1	449	668	24	3		3	AKAP13	15	86225399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100300	86225399	16305993	15676	25993											
AGBL1	123624	broad.mit.edu	37	chr15	86800203	86800203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgcctatgccttcccGgtccccgggtgcatcaccac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(715-717)ccG>ccA		ATP/GTP binding protein-like 1							74	75	75					15																	86800203		2039	4197	6236	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800203G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.717G>A	15.37:g.86800203G>A						AGBL1_ENST00000421325.2_Silent_p.P239P	p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			7	812	+			239					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.717G>A	CCDS58398.1																																																																																				0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		25	131	0	0	0	1	0	25	131					A	86800203	G	A	86800203	2	1	79	1	0	0	0	0	0	0	0	1	375	1103	39	1		1	AGBL1	15	86800203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	574804	86800203	15731189	15677	25994											
AGBL1	123624	broad.mit.edu	37	chr15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttagaaatcattatcGccagagtacagctgttgcag	8	9	2	2	rs376573682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	650					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1948-1950)cGc>cAc		ATP/GTP binding protein-like 1		G	HIS/ARG	1,4099		0,1,2049	94	96	95		1949	0.1	0	15		95	0,8384		0,0,4192	no	missense	AGBL1	NM_152336.2	29	0,1,6241	AA,AG,GG		0.0,0.0244,0.0080	benign	650/1067	86822881	1,12483	2050	4192	6242	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86822881G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1949G>A	15.37:g.86822881G>A	ENSP00000413001:p.Arg650His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H	p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			15	2044	+			650					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1949G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561146	0.27915	2.44E-4	0.0	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11277	2.8;2.79	5.3	0.0935	0.14477	.	0.605985	0.17360	N	0.177067	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.01	B;B;B	0.15484	0.009;0.013;0.003	T	0.23904	-1.0175	10	0.42905	T	0.14	-0.9957	3.6769	0.08295	0.1411:0.3666:0.3668:0.1256	.	349;381;650	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	679;650;381	ENSP00000397173:R650H;ENSP00000373949:R381H	ENSP00000373949:R381H	R	+	2	0	AGBL1	84623885	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.615000	0.24329	-0.115000	0.11915	-0.140000	0.14226	CGC		0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		72	319	0	0	0	1	0	72	319					A	86822881	G	A	86822881	3	1	79	1	0	0	0	0	1	0	0	0	375	1087	38	1	2003	1	AGBL1	15	86822881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22678	86822881	15708511	15678	25995											
AGBL1	123624	broad.mit.edu	37	chr15	86822914	86822914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcaggcggagcatctgGgaagtgctactataccctca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822914G>A	ENST00000441037.2	+	15	2077	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E|AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	661					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGCATCTGGGAAGTGCTAC	0.522																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1981-1983)gGg>gAg		ATP/GTP binding protein-like 1							179	177	178					15																	86822914		2080	4220	6300	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86822914G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1982G>A	15.37:g.86822914G>A	ENSP00000413001:p.Gly661Glu					AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E	p.G661E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			15	2077	+			661					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1982G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023810	0.35701	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10860	2.83;2.83	4.83	3.88	0.44766	.	0.411474	0.25572	N	0.029742	T	0.11239	0.0274	L	0.49778	1.585	0.38626	D	0.951253	B;B;B	0.29508	0.036;0.079;0.246	B;B;B	0.26202	0.042;0.067;0.046	T	0.08351	-1.0726	10	0.45353	T	0.12	-10.3879	11.4658	0.50239	0.0906:0.0:0.9094:0.0	.	360;392;661	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	E	690;661;392	ENSP00000397173:G661E;ENSP00000373949:G392E	ENSP00000373949:G392E	G	+	2	0	AGBL1	84623918	1.000000	0.71417	0.185000	0.23176	0.509000	0.34042	5.267000	0.65530	1.189000	0.43028	0.655000	0.94253	GGG		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		145	533	0	0	0	1	0	145	533					A	86822914	G	A	86822914	3	1	79	1	0	0	0	0	1	0	0	0	375	1232	43	2	2036	2	AGBL1	15	86822914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	86822914	15708478	15679	25996											
AGBL1	123624	broad.mit.edu	37	chr15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagtgctgaggaggacGctctggaccagcacctccaa	13	12	1	2	rs369790993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1021					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3061-3063)Gct>Act		ATP/GTP binding protein-like 1		G	THR/ALA	0,3976		0,0,1988	40	40	40		3061	-0.5	0	15		40	2,8310		0,2,4154	no	missense	AGBL1	NM_152336.2	58	0,2,6142	AA,AG,GG		0.0241,0.0,0.0163	benign	1021/1067	87217645	2,12286	1988	4156	6144	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87217645G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3061G>A	15.37:g.87217645G>A	ENSP00000413001:p.Ala1021Thr					AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			22	3156	+			1021					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3061G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890460	0.33348	0.0	2.41E-4	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10099	2.92;2.91	5.63	-0.477	0.12097	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45101	-0.9284	9	0.16420	T	0.52	-0.0733	3.0314	0.06108	0.3053:0.0:0.3541:0.3407	.	1021	Q96MI9	CBPC4_HUMAN	T	1021;752	ENSP00000397173:A1021T;ENSP00000373949:A752T	ENSP00000373949:A752T	A	+	1	0	AGBL1	85018649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.408000	0.07169	0.301000	0.22738	-0.222000	0.12452	GCT		0.532	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		17	90	0	0	0	1	0	17	90					A	87217645	G	A	87217645	3	1	79	1	0	0	0	0	1	0	0	0	375	1087	38	1	3143	1	AGBL1	15	87217645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394731	87217645	15313747	15680	25997											
NTRK3	4916	broad.mit.edu	37	chr15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcagactcggggccGctccaaaacacgaccttggg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000360948.2	-	19	2532	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NTRK3_ENST00000394480.2_Missense_Mutation_p.R777W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2329-2331)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 3							78	67	70					15																	88420315		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88420315G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2371C>T	15.37:g.88420315G>A	ENSP00000354207:p.Arg791Trp	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R791W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W	p.R777W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2650	-			791			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2329C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873862	0.72180	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.58	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87664	0.2536	10	0.87932	D	0	.	13.2102	0.59819	0.0:0.0:0.2524:0.7476	.	769;777;791	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	777;791;783;777	ENSP00000377990:R777W;ENSP00000354207:R791W;ENSP00000350356:R783W;ENSP00000347397:R777W	ENSP00000347397:R777W	R	-	1	2	NTRK3	86221319	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	0.025000	0.13577	0.645000	0.30675	0.561000	0.74099	CGG		0.527	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				39	202	0	0	0	1	0	39	202					A	88420315	G	A	88420315	3	1	79	1	0	0	0	0	1	0	0	0	10750	1086	38	1	152	1	NTRK3	15	88420315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202670	88420315	14111077	15681	25998											
NTRK3	4916	broad.mit.edu	37	chr15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcacccttggcctggcGtggctgtccatccacaagga	11	15	1	0	rs139392904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000360948.2	-	16	2094	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGCCTGGCGTGGCTGTCCA	0.587			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18909	0.001		0.0	False		,,,				2504	0.0					ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1933-1935)Cgc>Tgc		neurotrophic tyrosine kinase, receptor, type 3		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	56	51	53		1933,1933	5.2	1	15	dbSNP_134	53	9,8589	6.4+/-24.3	0,9,4290	yes	missense,missense	NTRK3	NM_001012338.2,NM_002530.3	180,180	0,10,6490	AA,AG,GG		0.1047,0.0227,0.0769	probably-damaging,probably-damaging	645/840,645/826	88472622	10,12990	2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472622G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1933C>T	15.37:g.88472622G>A	ENSP00000354207:p.Arg645Cys	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000360948.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C	p.R645C	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2254	-			645			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1933C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255390	0.80135	2.27E-4	0.001047	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059478	0.64402	D	0.000001	D	0.91981	0.7460	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.992;0.994;0.997	P;P;P;P;P	0.57548	0.684;0.684;0.684;0.556;0.823	D	0.92621	0.6108	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	547;637;637;645;645	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	645;645;637;645;547	ENSP00000377990:R645C;ENSP00000354207:R645C;ENSP00000350356:R637C;ENSP00000347397:R645C;ENSP00000437773:R547C	ENSP00000347397:R645C	R	-	1	0	NTRK3	86273626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.409000	0.81822	0.655000	0.94253	CGC		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				26	117	0	0	0	1	0	26	117					A	88472622	G	A	88472622	3	1	79	1	0	0	0	0	1	0	0	0	10750	1145	40	1	602	1	NTRK3	15	88472622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52307	88472622	14058770	15682	25999											
NTRK3	4916	broad.mit.edu	37	chr15	88522688	88522688	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggattcaacataatttctCtgaaacctataaaaaacaaa	3	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88522688C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R576I|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.R576I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATAATTTCTCTGAAACCTAT	0.343			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000317501.3				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1726-1728)aGa>aTa		neurotrophic tyrosine kinase, receptor, type 3							75	76	76					15																	88522688		2201	4299	6500	SO:0001627	intron_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88522688C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-38704G>T	15.37:g.88522688C>A		TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R576I|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000558306.1_5'UTR	p.R576I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	1888	-			0			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1727G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960531	0.74016	.	.	ENSG00000140538	ENST00000540489;ENST00000317501;ENST00000537300	T;T	0.73469	-0.75;-0.75	5.15	5.15	0.70609	.	.	.	.	.	T	0.64238	0.2580	N	0.08118	0	0.43714	D	0.996185	D	0.61080	0.989	P	0.47573	0.55	T	0.73665	-0.3911	9	0.87932	D	0	.	17.6353	0.88120	0.0:1.0:0.0:0.0	.	576	Q96CY4	.	I	576;576;11	ENSP00000444673:R576I;ENSP00000318328:R576I	ENSP00000318328:R576I	R	-	2	0	NTRK3	86323692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.330000	0.52068	2.400000	0.81607	0.655000	0.94253	AGA		0.343	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				67	337	1	0	1.63498e-16	1	1.79634e-16	67	337					A	88522688	C	A	88522688	1	1	79	0	1	0	0	0	0	0	0	0	10750	913	32	3		3	NTRK3	15	88522688	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50066	88522688	14008704	15683	26000											
NTRK3	4916	broad.mit.edu	37	chr15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcagcaagtccaactgCtatggatacctgtgaggaac	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000360948.2	-	12	1464	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTCCAACTGCTATGGATACC	0.438			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1303-1305)Gca>Tca		neurotrophic tyrosine kinase, receptor, type 3							105	91	96					15																	88669595		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88669595C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1303G>T	15.37:g.88669595C>A	ENSP00000354207:p.Ala435Ser	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000360948.2_Missense_Mutation_p.A435S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000558306.1_Intron	p.A435S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1624	-			435					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1303G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687306	0.68157	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74526	-0.84;-0.79;-0.85;-0.84;-0.73;-0.1;-0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.71206	2.165	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.997;0.947;1.0;0.999;0.947	D;D;P;D;D;P	0.81914	0.994;0.985;0.677;0.994;0.995;0.677	D	0.86621	0.1879	10	0.66056	D	0.02	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	435;435;427;435;337;435;435	ENSP00000377990:A435S;ENSP00000354207:A435S;ENSP00000350356:A427S;ENSP00000347397:A435S;ENSP00000437773:A337S;ENSP00000444673:A435S;ENSP00000318328:A435S	ENSP00000318328:A435S	A	-	1	0	NTRK3	86470599	1.000000	0.71417	0.932000	0.37286	0.122000	0.20287	7.543000	0.82106	2.652000	0.90054	0.655000	0.94253	GCA		0.438	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				18	166	1	0	1.99824e-07	1	2.07512e-07	18	166					A	88669595	C	A	88669595	3	1	79	1	0	0	0	0	1	0	0	0	10750	797	28	3	1510	3	NTRK3	15	88669595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146907	88669595	13861797	15684	26001											
NTRK3	4916	broad.mit.edu	37	chr15	88799241	88799241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaggttcccatcgtcCggccgccggcaattgatctc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000360948.2	-	2	305	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000394480.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	48					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCCATCGTCCGGCCGCCGGC	0.547			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(142-144)ccG>ccA		neurotrophic tyrosine kinase, receptor, type 3							268	220	237					15																	88799241		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88799241C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.144G>A	15.37:g.88799241C>T		TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3_ENST00000360948.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P	p.P48P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	465	-			48					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.144G>A	CCDS32322.1																																																																																				0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				71	412	0	0	0	1	0	71	412					T	88799241	C	T	88799241	2	4	79	1	0	0	0	0	0	0	0	1	10750	639	23	1		1	NTRK3	15	88799241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129646	88799241	13732151	15685	26002											
MRPS11	64963	broad.mit.edu	37	chr15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtggcacagagggatttCggaatgccaagaagggcaca	14	9	0	2	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517																																						ENST00000325844.4																			1	Substitution - Missense(1)	p.R118W(1)	large_intestine(1)	large_intestine(3)	3						c.(352-354)Cgg>Tgg		mitochondrial ribosomal protein S11		C	TRP/ARG,TRP/ARG	3,4399	4.2+/-10.8	0,3,2198	120	103	109		352,253	4.3	1	15	dbSNP_134	109	0,8598		0,0,4299	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	118/195,85/162	89018411	3,12997	2201	4299	6500	SO:0001583	missense	64963				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr15:89018411C>T	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.352C>T	15.37:g.89018411C>T	ENSP00000317376:p.Arg118Trp					MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	p.R118W	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		4	617	+	Lung NSC(78;0.203)		118					B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	c.352C>T	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	MRPS11	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG		0.517	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		56	314	0	0	0	1	0	56	314					T	89018411	C	T	89018411	3	4	79	1	0	0	0	0	1	0	0	0	9863	875	31	1	366	1	MRPS11	15	89018411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219170	89018411	13512981	15686	26003											
DET1	55070	broad.mit.edu	37	chr15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccacattcgcagctgcCgcagttggtcaaaatactgg	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000268148.8	-	2	1125	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_Missense_Mutation_p.R338Q|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	327						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1012-1014)cGg>cAg		de-etiolated homolog 1 (Arabidopsis)							43	46	45					15																	89073957		1932	4124	6056	SO:0001583	missense	55070					nucleus		g.chr15:89073957C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.980G>A	15.37:g.89073957C>T	ENSP00000268148:p.Arg327Gln					DET1_ENST00000268148.8_Missense_Mutation_p.R327Q|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	p.R338Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	1173	-	Lung NSC(78;0.105)|all_lung(78;0.182)		327					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1013G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991526	0.35131	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	4.71	0.59529	.	0.048971	0.85682	N	0.000000	T	0.57007	0.2024	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.19817	0.039;0.039	B;B	0.19946	0.016;0.027	T	0.53669	-0.8406	9	0.13470	T	0.59	-28.4679	15.0509	0.71867	0.1428:0.8572:0.0:0.0	.	327;338	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	338;327	.	ENSP00000268148:R327Q	R	-	2	0	DET1	86874961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.277000	0.58939	1.584000	0.49913	0.655000	0.94253	CGG		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		35	123	0	0	0	1	0	35	123					T	89073957	C	T	89073957	3	4	79	1	0	0	0	0	1	0	0	0	4466	652	23	1	688	1	DET1	15	89073957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55546	89073957	13457435	15687	26004											
AEN	64782	broad.mit.edu	37	chr15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatgacaagtacatcaGgcctgagatgcccatcgctg	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	148	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602																																						ENST00000332810.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(442-444)aGg>aAg		apoptosis enhancing nuclease							78	74	75					15																	89169883		2200	4299	6499	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169883G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"interferon stimulated exonuclease gene 20kDa-like 1"	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.443G>A	15.37:g.89169883G>A	ENSP00000331944:p.Arg148Lys					AEN_ENST00000379231.3_Missense_Mutation_p.R148K	p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN			2	594	+			148			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.443G>A	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741046	0.30865	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27890	1.64;1.64	5.32	1.26	0.21427	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.858239	0.10110	N	0.714869	T	0.09468	0.0233	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.16289	0.009;0.015	T	0.37056	-0.9722	10	0.09590	T	0.72	-11.5789	3.8604	0.08993	0.2922:0.0:0.4457:0.2621	.	148;148	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	K	148	ENSP00000331944:R148K;ENSP00000368533:R148K	ENSP00000331944:R148K	R	+	2	0	AEN	86970887	0.986000	0.35501	0.946000	0.38457	0.965000	0.64279	1.355000	0.34068	-0.014000	0.14175	0.609000	0.83330	AGG		0.602	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		91	522	0	0	0	1	0	91	522					A	89169883	G	A	89169883	3	1	79	1	0	0	0	0	1	0	0	0	351	1000	35	2	445	2	AEN	15	89169883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95926	89169883	13361509	15688	26005											
ACAN	176	broad.mit.edu	37	chr15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctggagtaggagacCtcagtgggcttccttctgga	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89398733C>A	ENST00000561243.1	+	11	2917	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000439576.2_Missense_Mutation_p.L973I			P16112	PGCA_HUMAN	aggrecan	972	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2917-2919)Ctc>Atc		aggrecan							142	146	145					15																	89398733		1842	4088	5930	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398733C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2917C>A	15.37:g.89398733C>A	ENSP00000453342:p.Leu973Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000561243.1_Missense_Mutation_p.L973I	p.L973I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3291	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		973					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2917C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635073	0.00806	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95788	-3.81;-3.81	4.48	-1.44	0.08856	.	1.458670	0.05162	N	0.497976	D	0.89118	0.6624	N	0.17674	0.51	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.32393	0.109;0.145	T	0.79680	-0.1702	10	0.08599	T	0.76	-2.7456	4.1285	0.10138	0.543:0.2503:0.1224:0.0842	.	973;973	E7ENV9;E7EX88	.;.	I	973	ENSP00000387356:L973I;ENSP00000341615:L973I	ENSP00000268134:L973I	L	+	1	0	ACAN	87199737	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.178000	0.03093	-0.158000	0.11040	-0.311000	0.09066	CTC		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		212	896	1	0	3.73429e-81	1	4.77757e-81	212	896					A	89398733	C	A	89398733	3	1	79	1	0	0	0	0	1	0	0	0	117	681	24	3	2959	3	ACAN	15	89398733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228850	89398733	13132659	15689	26006											
ACAN	176	broad.mit.edu	37	chr15	89400745	89400745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttggaagtggcccaccCtctggcctgcctgactttag	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400745C>A	ENST00000561243.1	+	11	4929	c.4929C>A	c.(4927-4929)ccC>ccA	p.P1643P	ACAN_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000439576.2_Silent_p.P1643P			P16112	PGCA_HUMAN	aggrecan	1684	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4927-4929)ccC>ccA		aggrecan							145	148	147					15																	89400745		1935	4123	6058	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400745C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4929C>A	15.37:g.89400745C>A						ACAN_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000561243.1_Silent_p.P1643P	p.P1643P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5303	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1643					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4929C>A	CCDS53970.1																																																																																				0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		134	637	1	0	1.12488e-73	1	1.43224e-73	134	637					A	89400745	C	A	89400745	2	1	79	1	0	0	0	0	0	0	0	1	117	668	24	3		3	ACAN	15	89400745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	89400745	13130647	15690	26007											
ACAN	176	broad.mit.edu	37	chr15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccatctggattcccaaCtgtttccctagtggattcta	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000561243.1	+	11	4973	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I			P16112	PGCA_HUMAN	aggrecan	1699	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATTCCCAACTGTTTCCCTA	0.532																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4972-4974)aCt>aTt		aggrecan							144	145	144					15																	89400789		1953	4132	6085	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400789C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4973C>T	15.37:g.89400789C>T	ENSP00000453342:p.Thr1658Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000561243.1_Missense_Mutation_p.T1658I	p.T1658I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5347	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1658					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4973C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956519	0.73902	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03607	4.13;3.87	5.86	5.86	0.93980	.	0.000000	0.33553	N	0.004785	T	0.22044	0.0531	M	0.82823	2.61	0.36779	D	0.884243	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01298	-1.1392	10	0.45353	T	0.12	-19.2149	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1658;1658	E7ENV9;E7EX88	.;.	I	1658;1658;1544	ENSP00000387356:T1658I;ENSP00000341615:T1658I	ENSP00000268134:T1544I	T	+	2	0	ACAN	87201793	0.992000	0.36948	0.973000	0.42090	0.998000	0.95712	3.920000	0.56446	2.775000	0.95449	0.655000	0.94253	ACT		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		118	582	0	0	0	1	0	118	582					T	89400789	C	T	89400789	3	4	79	1	0	0	0	0	1	0	0	0	117	565	20	2	5015	2	ACAN	15	89400789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	89400789	13130603	15691	26008											
ACAN	176	broad.mit.edu	37	chr15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggtggaagtggtcacagCctccactgcaagtgaactgg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000561243.1	+	11	5015	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D			P16112	PGCA_HUMAN	aggrecan	1726	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCACAGCCTCCACTGCA	0.537																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5014-5016)gCc>gAc		aggrecan							144	145	145					15																	89400831		1969	4150	6119	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400831C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5015C>A	15.37:g.89400831C>A	ENSP00000453342:p.Ala1672Asp					ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000561243.1_Missense_Mutation_p.A1672D	p.A1672D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5389	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1672					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5015C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02606	4.47;4.23	5.86	4.94	0.65067	.	0.532223	0.14184	N	0.335806	T	0.10637	0.0260	M	0.65975	2.015	0.09310	N	0.99999	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.24225	-1.0166	10	0.21014	T	0.42	-14.2096	8.8309	0.35082	0.149:0.7764:0.0:0.0746	.	1672;1672	E7ENV9;E7EX88	.;.	D	1672;1672;1558	ENSP00000387356:A1672D;ENSP00000341615:A1672D	ENSP00000268134:A1558D	A	+	2	0	ACAN	87201835	0.542000	0.26426	0.997000	0.53966	0.880000	0.50808	1.432000	0.34936	1.477000	0.48234	0.655000	0.94253	GCC		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		114	607	1	0	1.472e-32	1	1.73897e-32	114	607					A	89400831	C	A	89400831	3	1	79	1	0	0	0	0	1	0	0	0	117	739	26	3	5057	3	ACAN	15	89400831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	89400831	13130561	15692	26009											
ACAN	176	broad.mit.edu	37	chr15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccgcccctgaggccagcaGagaagattctgggtcccctg	13	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000561243.1	+	11	6362	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I			P16112	PGCA_HUMAN	aggrecan	2006	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCAGCAGAGAAGATTCT	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6361-6363)aGa>aTa		aggrecan							51	53	53					15																	89402178		1931	4130	6061	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402178G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6362G>T	15.37:g.89402178G>T	ENSP00000453342:p.Arg2121Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000561243.1_Missense_Mutation_p.R2121I	p.R2121I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6736	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2121					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6362G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239075	0.10023	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.69;4.43	4.31	3.37	0.38596	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.964;0.98	P;P	0.46275	0.51;0.51	T	0.54938	-0.8218	9	0.36615	T	0.2	-2.7329	9.1516	0.36967	0.0:0.1486:0.6761:0.1753	.	2121;2121	E7ENV9;E7EX88	.;.	I	2121;2121;2007	ENSP00000387356:R2121I;ENSP00000341615:R2121I	ENSP00000268134:R2007I	R	+	2	0	ACAN	87203182	0.062000	0.20869	0.042000	0.18584	0.015000	0.08874	1.400000	0.34577	0.900000	0.36469	-0.494000	0.04653	AGA		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		51	296	1	0	9.57592e-29	1	1.11608e-28	51	296					T	89402178	G	T	89402178	3	4	79	1	0	0	0	0	1	0	0	0	117	942	33	3	6404	3	ACAN	15	89402178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1347	89402178	13129214	15693	26010											
ACAN	176	broad.mit.edu	37	chr15	89403630	89403630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagggacacgtcatatgCctgtgcccccctggctacac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000561243.1	+	12	6906	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C			P16112	PGCA_HUMAN	aggrecan	2187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6904-6906)tgC>tgT		aggrecan							43	47	46					15																	89403630		2057	4176	6233	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403630C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6906C>T	15.37:g.89403630C>T						ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Silent_p.C2302C	p.C2302C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7280	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2302					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6906C>T	CCDS53970.1																																																																																				0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		15	106	0	0	0	1	0	15	106					T	89403630	C	T	89403630	2	4	79	1	0	0	0	0	0	0	0	1	117	747	26	2		2	ACAN	15	89403630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	89403630	13127762	15694	26011											
HAPLN3	145864	broad.mit.edu	37	chr15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatggaacttccaggCggcaaagagctgtcccacct	11	14	0	1	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000359595.3	-	5	1118	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	302	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)			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)	AACTTCCAGGCGGCAAAGAGC	0.632																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(904-906)Gcc>Acc		hyaluronan and proteoglycan link protein 3		C	THR/ALA	0,4400		0,0,2200	150	139	143		904	2.8	0.5	15	dbSNP_134	143	1,8597	1.2+/-3.3	0,1,4298	no	missense	HAPLN3	NM_178232.2	58	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/361	89421380	1,12997	2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421380C>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.904G>A	15.37:g.89421380C>T	ENSP00000352606:p.Ala302Thr					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	p.A302T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			5	1118	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		302			Link 2.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.904G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563356	0.86335	0.0	1.16E-4	ENSG00000140511	ENST00000359595	T	0.18502	2.21	4.7	2.76	0.32466	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.92604	3.325	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48055	-0.9068	10	0.87932	D	0	-17.0017	8.2766	0.31877	0.1553:0.761:0.0:0.0837	.	302;302	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	302	ENSP00000352606:A302T	ENSP00000352606:A302T	A	-	1	0	HAPLN3	87222384	1.000000	0.71417	0.544000	0.28141	0.929000	0.56500	7.391000	0.79828	0.481000	0.27557	0.655000	0.94253	GCC		0.632	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		33	924	0	0	0	1	0	33	924					T	89421380	C	T	89421380	3	4	79	1	0	0	0	0	1	0	0	0	6986	768	27	1	182	1	HAPLN3	15	89421380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	89421380	13110012	15695	26012											
HAPLN3	145864	broad.mit.edu	37	chr15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaccttggcgatcgtgGcatcatcttcctggcaggcc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000359595.3	-	5	1086	c.872C>T	c.(871-873)gCc>gTc	p.A291V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	291	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)			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)	GGCGATCGTGGCATCATCTTC	0.647																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(871-873)gCc>gTc		hyaluronan and proteoglycan link protein 3							160	146	151					15																	89421412		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421412G>A	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.872C>T	15.37:g.89421412G>A	ENSP00000352606:p.Ala291Val					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	p.A291V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			5	1086	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		291			Link 2.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.872C>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170122	0.57584	.	.	ENSG00000140511	ENST00000359595	T	0.47869	0.83	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.181464	0.46758	D	0.000268	T	0.79209	0.4407	H	0.96604	3.85	0.44652	D	0.997635	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87004	0.2118	10	0.87932	D	0	-25.7978	16.5998	0.84810	0.0:0.0:1.0:0.0	.	291;291	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	291	ENSP00000352606:A291V	ENSP00000352606:A291V	A	-	2	0	HAPLN3	87222416	1.000000	0.71417	0.264000	0.24511	0.010000	0.07245	5.495000	0.66912	2.306000	0.77630	0.655000	0.94253	GCC		0.647	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		160	801	0	0	0	1	0	160	801					A	89421412	G	A	89421412	3	1	79	1	0	0	0	0	1	0	0	0	6986	1203	42	2	214	2	HAPLN3	15	89421412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	89421412	13109980	15696	26013											
HAPLN3	145864	broad.mit.edu	37	chr15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccatttgacacgcacaCgccgcggggagaccagggcc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			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)	GACACGCACACGCCGCGGGGA	0.657																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(247-249)cGt>cAt		hyaluronan and proteoglycan link protein 3							73	70	71					15																	89424833		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424833C>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.248G>A	15.37:g.89424833C>T	ENSP00000352606:p.Arg83His					HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	p.R83H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			3	462	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		83			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.248G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		107	470	0	0	0	1	0	107	470					T	89424833	C	T	89424833	3	4	79	1	0	0	0	0	1	0	0	0	6986	536	19	1	846	1	HAPLN3	15	89424833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3421	89424833	13106559	15697	26014											
RLBP1	6017	broad.mit.edu	37	chr15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacttgtcccgactagagaGgacaccagggtagccagctt	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	148	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(442-444)Ctc>Atc		retinaldehyde binding protein 1	Vitamin A(DB00162)						125	114	118					15																	89758374		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89758374G>T	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.442C>A	15.37:g.89758374G>T	ENSP00000268125:p.Leu148Ile						p.L148I	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			6	881	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		148			CRAL-TRIO.		B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.442C>A	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362622	0.82353	.	.	ENSG00000140522	ENST00000268125	T	0.74737	-0.87	4.8	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.72032	D	0.01	-14.822	11.386	0.49785	0.0835:0.0:0.9165:0.0	.	148	P12271	RLBP1_HUMAN	I	148	ENSP00000268125:L148I	ENSP00000268125:L148I	L	-	1	0	RLBP1	87559378	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.433000	0.80362	2.229000	0.72834	0.561000	0.74099	CTC		0.542	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		122	481	1	0	1.45844e-59	1	1.83211e-59	122	481					T	89758374	G	T	89758374	3	4	79	1	0	0	0	0	1	0	0	0	13438	1000	35	3	527	3	RLBP1	15	89758374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333541	89758374	12773018	15698	26015											
POLG	5428	broad.mit.edu	37	chr15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacttggggcaggatgGccccatagaggccttcctca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	839					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2515-2517)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							59	59	59					15																	89865049		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89865049G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2516C>T	15.37:g.89865049G>A	ENSP00000268124:p.Ala839Val					POLG_ENST00000442287.2_Missense_Mutation_p.A839V	p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		16	2849	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		839					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2516C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938706	0.92526	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98362	-4.89;-4.89	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.103397	0.64402	D	0.000003	D	0.97993	0.9339	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.97162	0.9838	10	0.13108	T	0.6	-20.404	14.6815	0.69020	0.0:0.145:0.855:0.0	.	839	P54098	DPOG1_HUMAN	V	839	ENSP00000268124:A839V;ENSP00000399851:A839V	ENSP00000268124:A839V	A	-	2	0	POLG	87666053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.478000	0.81082	2.529000	0.85273	0.561000	0.74099	GCC		0.622	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		72	338	0	0	0	1	0	72	338					A	89865049	G	A	89865049	3	1	79	1	0	0	0	0	1	0	0	0	12242	1203	42	2	1235	2	POLG	15	89865049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106675	89865049	12666343	15699	26016											
POLG	5428	broad.mit.edu	37	chr15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgctgatgtccagccagtCccaggatgagatctggggaa	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	346					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1036-1038)Gac>Aac	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							56	56	56					15																	89872050		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872050C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1036G>A	15.37:g.89872050C>T	ENSP00000268124:p.Asp346Asn					POLG_ENST00000442287.2_Missense_Mutation_p.D346N	p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		5	1369	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		346					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1036G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316201	0.95655	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99376	-5.79;-5.79	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.041214	0.85682	D	0.000000	D	0.99199	0.9722	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.99924	1.1273	10	0.16896	T	0.51	-35.7266	19.6556	0.95837	0.0:1.0:0.0:0.0	.	346	P54098	DPOG1_HUMAN	N	346	ENSP00000268124:D346N;ENSP00000399851:D346N	ENSP00000268124:D346N	D	-	1	0	POLG	87673054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAC		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		70	329	0	0	0	1	0	70	329					T	89872050	C	T	89872050	3	4	79	1	0	0	0	0	1	0	0	0	12242	855	30	2	2759	2	POLG	15	89872050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7001	89872050	12659342	15700	26017											
POLG	5428	broad.mit.edu	37	chr15	89872175	89872175	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcagtgtgctctcaccGctgggcctcttctggctttc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	341					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.e4+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							77	68	71					15																	89872175		2200	4299	6499	SO:0001630	splice_region_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872175G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1023+1C>T	15.37:g.89872175G>A						POLG_ENST00000442287.2_Splice_Site_p.A341_splice	p.A341_splice	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		4	1355	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		341					Q8NFM2|Q92515	Splice_Site	SNP	ENST00000268124.5	37	c.1023_splice	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724842	0.48833	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92595	-3.07;-3.07	6.06	-7.57	0.01318	Ribonuclease H-like (1);	1.214350	0.05347	N	0.531184	D	0.86648	0.5983	M	0.65975	2.015	0.24342	N	0.99495	B	0.02656	0.0	B	0.01281	0.0	T	0.69339	-0.5171	10	0.27785	T	0.31	0.3442	2.8765	0.05632	0.4242:0.0849:0.3187:0.1722	.	341	P54098	DPOG1_HUMAN	V	341	ENSP00000268124:A341V;ENSP00000399851:A341V	ENSP00000268124:A341V	A	-	2	0	POLG	87673179	0.000000	0.05858	0.028000	0.17463	0.389000	0.30415	-0.861000	0.04268	-1.448000	0.01941	-0.812000	0.03155	GCG		0.632	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	Missense_Mutation	55	204	0	0	0	1	0	55	204					A	89872175	G	A	89872175	5	1	79	1	0	0	0	0	0	0	1	0	12242	1101	38	1	2777	1	POLG	15	89872175	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	89872175	12659217	15701	26018											
POLG	5428	broad.mit.edu	37	chr15	89873447	89873447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggatgaggtcagccggCgacagctggctggtccaaga	18	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_Silent_p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(718-720)tcG>tcA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							40	39	39					15																	89873447		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89873447C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.720G>A	15.37:g.89873447C>T						POLG_ENST00000442287.2_Silent_p.S240S	p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		3	1053	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		240					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.720G>A	CCDS10350.1																																																																																				0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		20	240	0	0	0	1	0	20	240					T	89873447	C	T	89873447	2	4	79	1	0	0	0	0	0	0	0	1	12242	755	27	1		1	POLG	15	89873447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	89873447	12657945	15702	26019											
C15orf42	90381	broad.mit.edu	37	chr15	90166933	90166933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatacaccacaaactcCgttgtatactccagaaaggc	5	14	1	1	rs201365800	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90166933C>T	ENST00000268138.7	+	20	3497	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1131					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACAAACTCCGTTGTATACT	0.448													C|||	9	0.00179712	0.0	0.0	5008	,	,		17906	0.0		0.0	False		,,,				2504	0.0092					ENST00000268138.7																			0											c.(3391-3393)cCg>cTg		TOPBP1-interacting checkpoint and replication regulator		C	LEU/PRO	0,3696		0,0,1848	165	163	163		3392	2.2	0	15		163	1,8177		0,1,4088	no	missense	C15orf42	NM_152259.3	98	0,1,5936	TT,TC,CC		0.0122,0.0,0.0084	benign	1131/1911	90166933	1,11873	1848	4089	5937	SO:0001583	missense	90381							g.chr15:90166933C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3392C>T	15.37:g.90166933C>T	ENSP00000268138:p.Pro1131Leu					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L	p.P1131L							20	3497	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3392C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642108	0.14451	0.0	1.22E-4	ENSG00000140534	ENST00000268138	T	0.09073	3.02	5.27	2.25	0.28309	.	0.208995	0.41938	N	0.000787	T	0.05456	0.0144	L	0.28740	0.885	0.09310	N	0.999999	B	0.17667	0.023	B	0.15052	0.012	T	0.39354	-0.9618	10	0.27785	T	0.31	-3.4785	5.3512	0.16036	0.1595:0.6522:0.0:0.1883	.	1131	Q7Z2Z1	TICRR_HUMAN	L	1131	ENSP00000268138:P1131L	ENSP00000268138:P1131L	P	+	2	0	C15orf42	87967937	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.593000	0.23999	0.165000	0.19558	-0.217000	0.12591	CCG		0.448	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		180	858	0	0	0	1	0	180	858					T	90166933	C	T	90166933	3	4	79	1	0	0	0	0	1	0	0	0	1801	652	23	1	3470	1	C15orf42	15	90166933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293486	90166933	12364459	15703	26020											
C15orf42	90381	broad.mit.edu	37	chr15	90167307	90167307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacacctccgagagcagcaGccttcatgggcacgcctcag	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167307G>A	ENST00000268138.7	+	20	3871	c.3766G>A	c.(3766-3768)Gcc>Acc	p.A1256T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.A1255T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1256	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAGAGCAGCAGCCTTCATGGG	0.572																																						ENST00000268138.7																			0											c.(3766-3768)Gcc>Acc		TOPBP1-interacting checkpoint and replication regulator							64	69	68					15																	90167307		2200	4299	6499	SO:0001583	missense	90381							g.chr15:90167307G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3766G>A	15.37:g.90167307G>A	ENSP00000268138:p.Ala1256Thr					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.A1255T	p.A1256T							20	3871	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3766G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790919	0.50102	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.67	3.74	0.42951	.	0.609497	0.14882	N	0.292881	T	0.07593	0.0191	L	0.27053	0.805	0.19300	N	0.999974	P	0.40731	0.728	B	0.43623	0.425	T	0.31194	-0.9952	10	0.27082	T	0.32	-2.3019	7.968	0.30111	0.0:0.2655:0.5219:0.2126	.	1256	Q7Z2Z1	TICRR_HUMAN	T	1256	ENSP00000268138:A1256T	ENSP00000268138:A1256T	A	+	1	0	C15orf42	87968311	0.002000	0.14202	0.241000	0.24154	0.056000	0.15407	0.687000	0.25407	0.915000	0.36847	0.655000	0.94253	GCC		0.572	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		126	524	0	0	0	1	0	126	524					A	90167307	G	A	90167307	3	1	79	1	0	0	0	0	1	0	0	0	1801	971	34	2	3844	2	C15orf42	15	90167307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	374	90167307	12364085	15704	26021											
C15orf42	90381	broad.mit.edu	37	chr15	90167585	90167585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccccagatgtcacccagCgtagctgcatctctctcctg	9	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167585C>T	ENST00000268138.7	+	20	4149	c.4044C>T	c.(4042-4044)agC>agT	p.S1348S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1347S			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1348	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCACCCAGCGTAGCTGCAT	0.507																																						ENST00000268138.7																			0											c.(4042-4044)agC>agT		TOPBP1-interacting checkpoint and replication regulator							107	111	110					15																	90167585		2200	4299	6499	SO:0001819	synonymous_variant	90381							g.chr15:90167585C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4044C>T	15.37:g.90167585C>T						KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1347S	p.S1348S							20	4149	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4044C>T	CCDS10352.2																																																																																				0.507	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		166	681	0	0	0	1	0	166	681					T	90167585	C	T	90167585	2	4	79	1	0	0	0	0	0	0	0	1	1801	767	27	1		1	C15orf42	15	90167585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278	90167585	12363807	15705	26022											
PEX11A	8800	broad.mit.edu	37	chr15	90229721	90229721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattaccaccttctctTtgccagctttgggctctaac	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90229721T>G	ENST00000300056.3	-	2	262	c.113A>C	c.(112-114)aAa>aCa	p.K38T	PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	38					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCTTCTCTTTGCCAGCTTT	0.408																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(112-114)aAa>aCa		peroxisomal biogenesis factor 11 alpha							174	161	166					15																	90229721		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90229721T>G	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.113A>C	15.37:g.90229721T>G	ENSP00000300056:p.Lys38Thr					PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T	p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	262	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		38					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.113A>C	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121402	0.37436	.	.	ENSG00000166821	ENST00000300056	T	0.41065	1.01	5.84	4.52	0.55395	.	0.312733	0.43260	D	0.000592	T	0.28632	0.0709	L	0.35487	1.065	0.80722	D	1	B	0.16166	0.016	B	0.21917	0.037	T	0.09292	-1.0681	10	0.19590	T	0.45	-4.2629	7.6494	0.28340	0.0:0.0815:0.1433:0.7751	.	38	O75192	PX11A_HUMAN	T	38	ENSP00000300056:K38T	ENSP00000300056:K38T	K	-	2	0	PEX11A	88030725	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.014000	0.29950	2.229000	0.72834	0.528000	0.53228	AAA		0.408	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		8	442	0	0	0	1	0	8	442					G	90229721	T	G	90229721	3	3	79	1	0	0	0	0	1	0	0	0	11779	1841	64	4	638	4	PEX11A	15	90229721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62136	90229721	12301671	15706	26023											
ANPEP	290	broad.mit.edu	37	chr15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgagcttgaagtagcTcaggctgctcagggcggcct	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	703	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TTGAAGTAGCTCAGGCTGCTC	0.572																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2107-2109)Agc>Tgc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						145	131	136					15																	90340856		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90340856T>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2107A>T	15.37:g.90340856T>A	ENSP00000300060:p.Ser703Cys					ANPEP_ENST00000558177.1_5'UTR	p.S703C	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		15	2420	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		703			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2107A>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825501	0.71143	.	.	ENSG00000166825	ENST00000300060	T	0.06528	3.29	5.46	2.99	0.34606	.	0.496209	0.25631	N	0.029345	T	0.17704	0.0425	M	0.85197	2.74	0.09310	N	1	D	0.52996	0.957	P	0.54856	0.762	T	0.03945	-1.0990	10	0.56958	D	0.05	.	7.11	0.25384	0.0:0.0811:0.2142:0.7047	.	703	P15144	AMPN_HUMAN	C	703	ENSP00000300060:S703C	ENSP00000300060:S703C	S	-	1	0	ANPEP	88141860	0.000000	0.05858	0.979000	0.43373	0.995000	0.86356	-0.112000	0.10791	1.012000	0.39366	0.533000	0.62120	AGC		0.572	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			142	647	0	0	0	1	0	142	647					A	90340856	T	A	90340856	3	1	79	1	0	0	0	0	1	0	0	0	710	1551	54	5	824	5	ANPEP	15	90340856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111135	90340856	12190536	15707	26024											
ANPEP	290	broad.mit.edu	37	chr15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctgaatcttcctccagttCtcttcgtcgtagttcacccg	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	637	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCTCCAGTTCTCTTCGTCGT	0.577																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1909-1911)gaG>gaT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						137	124	128					15																	90342699		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90342699C>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1911G>T	15.37:g.90342699C>A	ENSP00000300060:p.Glu637Asp					ANPEP_ENST00000558177.1_5'UTR	p.E637D	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		13	2224	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		637			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1911G>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289855	0.05568	.	.	ENSG00000166825	ENST00000300060	T	0.29397	1.57	5.15	0.631	0.17699	.	1.719790	0.02482	N	0.088618	T	0.21227	0.0511	N	0.17631	0.505	0.21719	N	0.999573	B	0.06786	0.001	B	0.15052	0.012	T	0.20806	-1.0264	10	0.10377	T	0.69	.	10.3218	0.43771	0.0:0.5417:0.3197:0.1385	.	637	P15144	AMPN_HUMAN	D	637	ENSP00000300060:E637D	ENSP00000300060:E637D	E	-	3	2	ANPEP	88143703	0.000000	0.05858	0.287000	0.24848	0.281000	0.26958	-0.806000	0.04525	0.154000	0.19237	-0.256000	0.11100	GAG		0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			14	337	1	0	4.3838e-07	1	4.54049e-07	14	337					A	90342699	C	A	90342699	3	1	79	1	0	0	0	0	1	0	0	0	710	912	32	3	1028	3	ANPEP	15	90342699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	90342699	12188693	15708	26025											
ANPEP	290	broad.mit.edu	37	chr15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccagtgcatccactgCcatcacgcggtacacatcat	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	445	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCATCCACTGCCATCACGCGG	0.612																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1333-1335)Gca>Aca		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						95	98	97					15																	90346982		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90346982C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1333G>A	15.37:g.90346982C>T	ENSP00000300060:p.Ala445Thr						p.A445T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		8	1646	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		445			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1333G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939934	0.52972	.	.	ENSG00000166825	ENST00000300060	T	0.02787	4.16	4.58	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054594	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46885	1.475	0.44061	D	0.996802	P	0.43633	0.813	P	0.48952	0.596	T	0.55328	-0.8158	10	0.16420	T	0.52	.	14.8532	0.70313	0.0:1.0:0.0:0.0	.	445	P15144	AMPN_HUMAN	T	445	ENSP00000300060:A445T	ENSP00000300060:A445T	A	-	1	0	ANPEP	88147986	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.163000	0.50763	2.093000	0.63338	0.305000	0.20034	GCA		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			42	305	0	0	0	1	0	42	305					T	90346982	C	T	90346982	3	4	79	1	0	0	0	0	1	0	0	0	710	739	26	2	1626	2	ANPEP	15	90346982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4283	90346982	12184410	15709	26026											
ANPEP	290	broad.mit.edu	37	chr15	90348375	90348375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgaaggccagcaagtaCgtggacatcttgggcgtggt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.T277T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CCAGCAAGTACGTGGACATCT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			1	Substitution - coding silent(1)	p.T277T(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(829-831)acG>acA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						335	277	297					15																	90348375		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348375C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.831G>A	15.37:g.90348375C>T							p.T277T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1144	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		277			Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.831G>A	CCDS10356.1																																																																																				0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			164	720	0	0	0	1	0	164	720					T	90348375	C	T	90348375	2	4	79	1	0	0	0	0	0	0	0	1	710	523	19	1		1	ANPEP	15	90348375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	90348375	12183017	15710	26027											
IDH2	3418	broad.mit.edu	37	chr15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactccttgacaccactgCcatcttttggggtgaagacc	8	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000330062.3	-	5	715	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	201					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(601-603)gGc>gAc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							88	84	85					15																	90631667		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631667C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.602G>A	15.37:g.90631667C>T	ENSP00000331897:p.Gly201Asp					IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D	p.G201D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		5	715	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		201					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.602G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819696	0.50633	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.973	D;D	0.68483	0.955;0.958	D	0.93049	0.6464	10	0.72032	D	0.01	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	201;201	Q53GL5;P48735	.;IDHP_HUMAN	D	201;71;149	ENSP00000331897:G201D;ENSP00000438457:G71D;ENSP00000446147:G149D	ENSP00000331897:G201D	G	-	2	0	IDH2	88432671	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.781000	0.85668	2.747000	0.94245	0.462000	0.41574	GGC		0.587	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			127	469	0	0	0	1	0	127	469					T	90631667	C	T	90631667	3	4	79	1	0	0	0	0	1	0	0	0	7525	739	26	2	784	2	IDH2	15	90631667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283292	90631667	11899725	15711	26028											
IDH2	3418	broad.mit.edu	37	chr15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggaagacagtcccccccaGgatgttccggatagttccat	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000330062.3	-	4	540	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	143					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(427-429)Ctg>Atg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							105	105	105					15																	90631926		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631926G>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.427C>A	15.37:g.90631926G>T	ENSP00000331897:p.Leu143Met					IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000559482.1_Intron	p.L143M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	540	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		143					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.427C>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225975	0.39300	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.85955	-2.05;-2.05;-2.05	5.67	4.56	0.56223	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.64402	D	0.000001	D	0.94571	0.8251	H	0.98276	4.19	0.44995	D	0.998017	D	0.76494	0.999	D	0.80764	0.994	D	0.94648	0.7836	10	0.87932	D	0	.	8.6475	0.34013	0.1763:0.0:0.8237:0.0	.	143	P48735	IDHP_HUMAN	M	143;13;91	ENSP00000331897:L143M;ENSP00000438457:L13M;ENSP00000446147:L91M	ENSP00000331897:L143M	L	-	1	2	IDH2	88432930	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.443000	0.44881	2.666000	0.90696	0.561000	0.74099	CTG		0.552	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			65	364	1	0	4.67498e-28	1	5.42913e-28	65	364					T	90631926	G	T	90631926	3	4	79	1	0	0	0	0	1	0	0	0	7525	991	35	3	963	3	IDH2	15	90631926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	90631926	11899466	15712	26029											
IDH2	3418	broad.mit.edu	37	chr15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatagttccattgggacttTtccacatcttcttcagcttg	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000330062.3	-	4	511	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	133					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(397-399)aAa>aGa		isocitrate dehydrogenase 2 (NADP+), mitochondrial							91	92	91					15																	90631955		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631955T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.398A>G	15.37:g.90631955T>C	ENSP00000331897:p.Lys133Arg					IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000559482.1_Intron	p.K133R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	511	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		133					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.398A>G	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639058	0.29157	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.73258	-0.73;-0.73;-0.73	5.67	4.53	0.55603	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.25144	0.715	0.42806	D	0.993945	B	0.09022	0.002	B	0.11329	0.006	T	0.45352	-0.9267	10	0.21540	T	0.41	.	11.1028	0.48186	0.0:0.0:0.1553:0.8447	.	133	P48735	IDHP_HUMAN	R	133;3;81	ENSP00000331897:K133R;ENSP00000438457:K3R;ENSP00000446147:K81R	ENSP00000331897:K133R	K	-	2	0	IDH2	88432959	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.238000	0.72350	0.952000	0.37798	0.459000	0.35465	AAA		0.517	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			57	341	0	0	0	1	0	57	341					C	90631955	T	C	90631955	3	2	79	1	0	0	0	0	1	0	0	0	7525	1841	64	4	992	4	IDH2	15	90631955	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	90631955	11899437	15713	26030											
SEMA4B	10509	broad.mit.edu	37	chr15	90766793	90766793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgactctccctccagggCgatgagggtggagagcgggt	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000332496.6_Silent_p.G288G|SEMA4B_ENST00000379122.3_Silent_p.G283G	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(862-864)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							20	21	21					15																	90766793		2113	4221	6334	SO:0001819	synonymous_variant	10509							g.chr15:90766793C>T	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.864C>T	15.37:g.90766793C>T						SEMA4B_ENST00000332496.6_Silent_p.G288G|SEMA4B_ENST00000379122.3_Silent_p.G283G	p.G288G	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		8	1124	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	c.864C>T	CCDS45347.1																																																																																				0.647	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		16	94	0	0	0	1	0	16	94					T	90766793	C	T	90766793	2	4	79	1	0	0	0	0	0	0	0	1	14082	755	27	1		1	SEMA4B	15	90766793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134838	90766793	11764599	15714	26031											
SEMA4B	10519	broad.mit.edu	37	chr15	90771368	90771368	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcagctggtagccagCtactgcccagaggtggtgga	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771368C>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Silent_p.S669S|SEMA4B_ENST00000411539.2_Silent_p.S669S|SEMA4B_ENST00000379122.3_Silent_p.S664S	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGTAGCCAGCTACTGCCCAG	0.617																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2005-2007)agC>agT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							46	51	49					15																	90771368		2070	4189	6259	SO:0001628	intergenic_variant	10509							g.chr15:90771368C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771368C>T						SEMA4B_ENST00000332496.6_Silent_p.S669S|SEMA4B_ENST00000379122.3_Silent_p.S664S	p.S669S	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2267	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Silent	SNP	ENST00000328649.6	37	c.2007C>T	CCDS10360.1																																																																																				0.617	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			19	85	0	0	0	1	0	19	85					T	90771368	C	T	90771368	1	4	79	0	1	0	0	0	0	0	0	0	14082	796	28	2		2	SEMA4B	15	90771368	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	90771368	11760024	15715	26032											
SEMA4B	10519	broad.mit.edu	37	chr15	90771863	90771863	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggctcggagatccgtgaCtctgtggtgtgagagctgac	15	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771863C>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E|SEMA4B_ENST00000411539.2_Missense_Mutation_p.D834E|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGATCCGTGACTCTGTGGTGT	0.627																																						ENST00000411539.2																			1	Deletion - Frameshift(1)	p.C821fs*>1(1)	breast(1)	NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2500-2502)gaC>gaA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							34	40	38					15																	90771863		2152	4237	6389	SO:0001628	intergenic_variant	10509							g.chr15:90771863C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771863C>A						SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E|SEMA4B_ENST00000379122.3_Intron	p.D834E	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2762	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2502C>A	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750998	0.69533	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.31247	1.5;1.5	4.57	2.68	0.31781	.	0.165499	0.51477	D	0.000100	T	0.39358	0.1075	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17653	-1.0362	10	0.87932	D	0	.	7.6908	0.28567	0.0:0.7393:0.0:0.2607	.	834;829	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	E	834	ENSP00000332204:D834E;ENSP00000394720:D834E	ENSP00000332204:D834E	D	+	3	2	SEMA4B	88572867	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.720000	0.47252	0.651000	0.30788	0.561000	0.74099	GAC		0.627	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			59	275	1	0	6.1719e-39	1	7.45173e-39	59	275					A	90771863	C	A	90771863	1	1	79	0	1	0	0	0	0	0	0	0	14082	564	20	3		3	SEMA4B	15	90771863	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	90771863	11759529	15716	26033											
CIB1	10519	broad.mit.edu	37	chr15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagccgtgtgtcctcgccctCtcccgtgaggcagttcacca	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	138	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(412-414)Gag>Tag		calcium and integrin binding 1 (calmyrin)							86	86	86					15																	90774380		2199	4298	6497	SO:0001587	stop_gained	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774380C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.412G>T	15.37:g.90774380C>A	ENSP00000333873:p.Glu138*						p.E138*	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		5	573	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		138			EF-hand 1.		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Nonsense_Mutation	SNP	ENST00000328649.6	37	c.412G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246815	0.80024	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.44	3.53	0.40419	.	0.337042	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-20.3041	9.9796	0.41806	0.0:0.6325:0.2911:0.0764	.	.	.	.	X	138	.	ENSP00000333873:E138X	E	-	1	0	CIB1	88575384	0.996000	0.38824	0.944000	0.38274	0.348000	0.29142	3.252000	0.51461	1.284000	0.44531	0.655000	0.94253	GAG		0.582	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			51	370	1	0	6.4308e-24	1	7.32928e-24	51	370					A	90774380	C	A	90774380	4	1	79	1	0	0	0	0	0	1	0	0	3429	922	32	3	175	3	CIB1	15	90774380	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2517	90774380	11757012	15717	26034											
C15orf58	390637	broad.mit.edu	37	chr15	90785069	90785069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagccctcacaggggtccGagtaattctgtgggcccgga	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90785069G>A	ENST00000558017.1	+	4	1349	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R310Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	310					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										ACAGGGGTCCGAGTAATTCTG	0.537																																						ENST00000558017.1																			0											c.(928-930)cGa>cAa		GDP-D-glucose phosphorylase 1							88	87	87					15																	90785069		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90785069G>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.929G>A	15.37:g.90785069G>A	ENSP00000452793:p.Arg310Gln					GDPGP1_ENST00000329600.6_Missense_Mutation_p.R310Q	p.R310Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	1349	+			310						Missense_Mutation	SNP	ENST00000558017.1	37	c.929G>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359444	0.95854	.	.	ENSG00000183208	ENST00000329600	T	0.30182	1.54	5.62	5.62	0.85841	.	0.067449	0.64402	N	0.000018	T	0.57784	0.2077	M	0.76002	2.32	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.56529	-0.7964	10	0.48119	T	0.1	-4.3321	18.2287	0.89927	0.0:0.0:1.0:0.0	.	310	Q6ZNW5	VTC2_HUMAN	Q	310	ENSP00000368405:R310Q	ENSP00000368405:R310Q	R	+	2	0	C15orf58	88586073	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	6.936000	0.75892	2.661000	0.90470	0.655000	0.94253	CGA		0.537	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		75	303	0	0	0	1	0	75	303					A	90785069	G	A	90785069	3	1	79	1	0	0	0	0	1	0	0	0	1811	1058	37	1	931	1	C15orf58	15	90785069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10689	90785069	11746323	15718	26035											
TTLL13	440307	broad.mit.edu	37	chr15	90796595	90796595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggacatgaagaggtTtcaggtacccatctcctgac	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90796595T>G	ENST00000561573.1	+	4	677	c.413T>G	c.(412-414)tTt>tGt	p.F138C	TTLL13_ENST00000339615.5_Missense_Mutation_p.F138C|TTLL13_ENST00000438251.1_Missense_Mutation_p.F138C																							ATGAAGAGGTTTCAGGTACCC	0.557																																						ENST00000561573.1																			0											c.(412-414)tTt>tGt									113	77	89					15																	90796595		2199	4298	6497	SO:0001583	missense	0							g.chr15:90796595T>G																												ENST00000561573.1:c.413T>G	15.37:g.90796595T>G	ENSP00000456615:p.Phe138Cys					TTLL13_ENST00000438251.1_Missense_Mutation_p.F138C|TTLL13_ENST00000339615.5_Missense_Mutation_p.F138C	p.F138C							4	677	+									Missense_Mutation	SNP	ENST00000561573.1	37	c.413T>G		.	.	.	.	.	.	.	.	.	.	T	19.11	3.763149	0.69763	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05447	3.44;3.44	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.31009	0.0783	M	0.90542	3.125	0.51233	D	0.999918	D	0.71674	0.998	D	0.71414	0.973	T	0.24870	-1.0148	10	0.87932	D	0	.	14.6133	0.68531	0.0:0.0:0.0:1.0	.	138	A6NNM8-2	.	C	138	ENSP00000413362:F138C;ENSP00000345294:F138C	ENSP00000345294:F138C	F	+	2	0	TTLL13	88597599	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.644000	0.61397	2.050000	0.60909	0.459000	0.35465	TTT		0.557	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1			17	67	0	0	0	1	0	17	67					G	90796595	T	G	90796595	3	3	79	1	0	0	0	0	1	0	0	0	16780	1841	64	4	423	4	TTLL13	15	90796595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11526	90796595	11734797	15719	26036											
TTLL13	440307	broad.mit.edu	37	chr15	90800938	90800938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattttgtccgggatggcGctgtgggcagtaagaggtac	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90800938G>A	ENST00000561573.1	+	6	895	c.631G>A	c.(631-633)Gct>Act	p.A211T	TTLL13_ENST00000339615.5_Missense_Mutation_p.A307T|TTLL13_ENST00000438251.1_Missense_Mutation_p.A307T																							CCGGGATGGCGCTGTGGGCAG	0.527																																						ENST00000561573.1																			0											c.(631-633)Gct>Act									196	190	192					15																	90800938		2199	4298	6497	SO:0001583	missense	0							g.chr15:90800938G>A																												ENST00000561573.1:c.631G>A	15.37:g.90800938G>A	ENSP00000456615:p.Ala211Thr					TTLL13_ENST00000438251.1_Missense_Mutation_p.A307T|TTLL13_ENST00000339615.5_Missense_Mutation_p.A307T	p.A211T							6	895	+									Missense_Mutation	SNP	ENST00000561573.1	37	c.631G>A		.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316714	0.05386	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05580	3.42;3.42	5.58	2.26	0.28386	.	0.233306	0.37577	N	0.002028	T	0.02848	0.0085	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43475	-0.9389	10	0.17369	T	0.5	.	2.5346	0.04711	0.2564:0.0:0.3363:0.4073	.	307	A6NNM8-2	.	T	307	ENSP00000413362:A307T;ENSP00000345294:A307T	ENSP00000345294:A307T	A	+	1	0	TTLL13	88601942	0.010000	0.17322	0.071000	0.20095	0.060000	0.15804	1.640000	0.37186	0.694000	0.31654	-0.254000	0.11334	GCT		0.527	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1			57	275	0	0	0	1	0	57	275					A	90800938	G	A	90800938	3	1	79	1	0	0	0	0	1	0	0	0	16780	1087	38	1	945	1	TTLL13	15	90800938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4343	90800938	11730454	15720	26037											
NGRN	51335	broad.mit.edu	37	chr15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgggagccggaggaacggGagctgcaggaggtggagagg	22	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	49					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAGGAACGGGAGCTGCAGGA	0.751																																						ENST00000379095.3																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(145-147)Gag>Aag		neugrin, neurite outgrowth associated							7	10	9					15																	90809089		2143	4177	6320	SO:0001583	missense	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90809089G>A	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.145G>A	15.37:g.90809089G>A	ENSP00000368389:p.Glu49Lys					NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	p.E49K	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		1	153	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		49					B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	37	c.145G>A	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331857	0.41297	.	.	ENSG00000182768	ENST00000379095	T	0.30981	1.51	4.77	3.86	0.44501	.	0.104340	0.36591	U	0.002516	T	0.27134	0.0665	L	0.32530	0.975	0.32686	N	0.514831	P	0.43094	0.799	P	0.50537	0.643	T	0.14643	-1.0465	10	0.07030	T	0.85	.	8.6983	0.34310	0.1017:0.0:0.8983:0.0	.	49	Q9NPE2	NGRN_HUMAN	K	49	ENSP00000368389:E49K	ENSP00000368389:E49K	E	+	1	0	NGRN	88610093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.250000	0.43966	0.655000	0.94253	GAG		0.751	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			22	81	0	0	0	1	0	22	81					A	90809089	G	A	90809089	3	1	79	1	0	0	0	0	1	0	0	0	10441	1175	41	2	147	2	NGRN	15	90809089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8151	90809089	11722303	15721	26038											
NGRN	51335	broad.mit.edu	37	chr15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtcatccaagagagctgCagaagtactccagtgattct	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	235					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAGAGCTGCAGAAGTACTC	0.517																																						ENST00000379095.3																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(703-705)Cag>Tag		neugrin, neurite outgrowth associated							50	45	47					15																	90814847		2199	4298	6497	SO:0001587	stop_gained	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90814847C>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.703C>T	15.37:g.90814847C>T	ENSP00000368389:p.Gln235*					NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	p.Q235*	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		3	711	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		235					B2R6M8|Q4V9L7|Q9HBL4	Nonsense_Mutation	SNP	ENST00000379095.3	37	c.703C>T	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583783	0.46006	.	.	ENSG00000182768	ENST00000379095	.	.	.	3.67	2.74	0.32292	.	0.433136	0.19828	U	0.105146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.6392	0.45584	0.1933:0.8067:0.0:0.0	.	.	.	.	X	235	.	ENSP00000368389:Q235X	Q	+	1	0	NGRN	88615851	0.167000	0.22975	0.003000	0.11579	0.323000	0.28346	1.272000	0.33109	1.108000	0.41662	0.557000	0.71058	CAG		0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			13	192	0	0	0	1	0	13	192					T	90814847	C	T	90814847	4	4	79	1	0	0	0	0	0	1	0	0	10441	711	25	2	713	2	NGRN	15	90814847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5758	90814847	11716545	15722	26039											
ZNF774	342132	broad.mit.edu	37	chr15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtaacaagagcttccGtcagaaagcgcatcttttat	7	8	2	2	rs368856575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000354377.3	+	4	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCCGTCAGAAAGCG	0.433																																						ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(1405-1407)cGt>cAt		zinc finger protein 774		G	HIS/ARG	0,4398		0,0,2199	90	91	91		1406	-3.2	0.1	15		91	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF774	NM_001004309.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	469/484	90904469	1,12993	2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904469G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1406G>A	15.37:g.90904469G>A	ENSP00000346348:p.Arg469His					ZNF774_ENST00000379090.5_Intron	p.R469H	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1592	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		469					A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1406G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019029	0.54576	0.0	1.16E-4	ENSG00000196391	ENST00000354377	T	0.18016	2.24	5.86	-3.2	0.05156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33438	U	0.004915	T	0.24122	0.0584	M	0.62016	1.91	0.39717	D	0.97141	D	0.76494	0.999	D	0.65773	0.938	T	0.25779	-1.0122	10	0.54805	T	0.06	.	1.1591	0.01802	0.4239:0.1154:0.2257:0.2349	.	469	Q6NX45	ZN774_HUMAN	H	469	ENSP00000346348:R469H	ENSP00000346348:R469H	R	+	2	0	ZNF774	88705473	0.000000	0.05858	0.122000	0.21767	0.870000	0.49936	0.565000	0.23578	-0.543000	0.06240	-0.244000	0.11960	CGT		0.433	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		113	440	0	0	0	1	0	113	440					A	90904469	G	A	90904469	3	1	79	1	0	0	0	0	1	0	0	0	18200	1145	40	1	1416	1	ZNF774	15	90904469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89622	90904469	11626923	15723	26040											
IQGAP1	8826	broad.mit.edu	37	chr15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttattcgggcaaacaaagCtcgggatgactacaagactc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	851	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2551-2553)gCt>gTt		IQ motif containing GTPase activating protein 1							58	57	57					15																	91017342		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91017342C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2552C>T	15.37:g.91017342C>T	ENSP00000268182:p.Ala851Val					IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	p.A851V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		22	2676	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		851			IQ 4.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2552C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654607	0.96724	.	.	ENSG00000140575	ENST00000268182	T	0.02498	4.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.80616	2.505	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	T	0.00127	-1.2019	10	0.46703	T	0.11	-14.4008	18.7225	0.91700	0.0:1.0:0.0:0.0	.	851	P46940	IQGA1_HUMAN	V	851	ENSP00000268182:A851V	ENSP00000268182:A851V	A	+	2	0	IQGAP1	88818346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.746000	0.94184	0.655000	0.94253	GCT		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		43	197	0	0	0	1	0	43	197					T	91017342	C	T	91017342	3	4	79	1	0	0	0	0	1	0	0	0	7844	797	28	2	2638	2	IQGAP1	15	91017342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112873	91017342	11514050	15724	26041											
CRTC3	64784	broad.mit.edu	37	chr15	91083357	91083357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagctgcggagcagtgcGtcagagtttcaggtacctcc	13	12	2	1	rs192214530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000268184.6	+	2	223	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000420329.2_Silent_p.A73A			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423			T	MAML2	salivary gland mucoepidermoid								G|||	1	0.000199681	0.0	0.0	5008	,	,		17350	0.001		0.0	False		,,,				2504	0.0					ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(217-219)gcG>gcA		CREB regulated transcription coactivator 3							96	91	93					15																	91083357		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91083357G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.219G>A	15.37:g.91083357G>A						CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000268184.6_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR	p.A73A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		2	366	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		73			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.219G>A	CCDS32331.1																																																																																				0.423	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		52	175	0	0	0	1	0	52	175					A	91083357	G	A	91083357	2	1	79	1	0	0	0	0	0	0	0	1	3910	1132	40	1		1	CRTC3	15	91083357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66015	91083357	11448035	15725	26042											
BLM	641	broad.mit.edu	37	chr15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgattcctgccctacaGggaattctatgaaggagtta	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000355112.3	+	7	1457	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000560509.1_Missense_Mutation_p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	447	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGCCCTACAGGGAATTCTAT	0.438			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1339-1341)Ggg>Agg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							122	125	124					15																	91303942		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303942G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1339G>A	15.37:g.91303942G>A	ENSP00000347232:p.Gly447Arg					BLM_ENST00000560509.1_Missense_Mutation_p.G447R	p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1457	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		447					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1339G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987362	0.35036	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.83	4.91	0.64330	.	2.117220	0.01426	N	0.014550	T	0.43255	0.1239	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.35126	-0.9801	10	0.17369	T	0.5	-10.5917	12.8054	0.57610	0.0:0.1764:0.8236:0.0	.	447;72;447	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	R	447;100	ENSP00000347232:G447R	ENSP00000347232:G447R	G	+	1	0	BLM	89104946	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	1.458000	0.47871	0.591000	0.81541	GGG		0.438	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			118	563	0	0	0	1	0	118	563					A	91303942	G	A	91303942	3	1	79	1	0	0	0	0	1	0	0	0	1447	1000	35	2	1361	2	BLM	15	91303942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220585	91303942	11227450	15726	26043											
BLM	641	broad.mit.edu	37	chr15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttacagagagatgggctcGctgctcttgcttaccatgct	11	11	1	2	rs372013507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000355112.3	+	14	2858	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGGGCTCGCTGCTCTTGC	0.473			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2740-2742)Gct>Act	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like		G	THR/ALA	0,4396		0,0,2198	102	92	96		2740	4	0.6	15		96	2,8594	2.2+/-6.3	0,2,4296	no	missense	BLM	NM_000057.2	58	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	benign	914/1418	91328228	2,12990	2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91328228G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2740G>A	15.37:g.91328228G>A	ENSP00000347232:p.Ala914Thr					BLM_ENST00000560509.1_Missense_Mutation_p.A914T|BLM_ENST00000560136.1_3'UTR	p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		14	2858	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		914			Helicase C-terminal.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2740G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991236	0.18966	0.0	2.33E-4	ENSG00000197299	ENST00000355112;ENST00000543977	T	0.74947	-0.89	5.84	3.95	0.45737	Helicase, C-terminal (3);	0.299378	0.36665	N	0.002465	T	0.59595	0.2205	N	0.17474	0.49	0.36005	D	0.837663	B;B;B	0.24721	0.015;0.11;0.032	B;B;B	0.29942	0.034;0.109;0.034	T	0.60026	-0.7343	10	0.34782	T	0.22	-14.9564	11.2575	0.49063	0.0:0.138:0.7184:0.1436	.	914;539;914	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	914;101	ENSP00000347232:A914T	ENSP00000347232:A914T	A	+	1	0	BLM	89129232	0.252000	0.23972	0.647000	0.29507	0.050000	0.14768	1.471000	0.35365	0.801000	0.34066	-0.152000	0.13540	GCT		0.473	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			72	301	0	0	0	1	0	72	301					A	91328228	G	A	91328228	3	1	79	1	0	0	0	0	1	0	0	0	1447	1087	38	1	2790	1	BLM	15	91328228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24286	91328228	11203164	15727	26044											
BLM	641	broad.mit.edu	37	chr15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgacacaatgccgaaagacTttttaaaaagctgatacttg	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000355112.3	+	18	3552	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1145					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCCGAAAGACTTTTTAAAAAG	0.383			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3433-3435)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							89	89	89					15																	91346826		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346826T>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3434T>G	15.37:g.91346826T>G	ENSP00000347232:p.Leu1145Arg					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1145R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		18	3552	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1145					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.3434T>G	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405061	0.83230	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.56103	0.48	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.90425	3.115	0.80722	D	1	P	0.51791	0.948	P	0.55011	0.766	T	0.79196	-0.1903	10	0.87932	D	0	-1.4901	13.8364	0.63413	0.0:0.0:0.0:1.0	.	1145	P54132	BLM_HUMAN	R	1145;775;332	ENSP00000347232:L1145R	ENSP00000347232:L1145R	L	+	2	0	BLM	89147830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.163000	0.67991	0.459000	0.35465	CTT		0.383	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			86	375	0	0	0	1	0	86	375					G	91346826	T	G	91346826	3	3	79	1	0	0	0	0	1	0	0	0	1447	1609	56	4	3500	4	BLM	15	91346826	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18598	91346826	11184566	15728	26045											
BLM	641	broad.mit.edu	37	chr15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgtcttggagaacttacaGaagtctgcaaatctctgggg	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000355112.3	+	19	3788	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1224	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAACTTACAGAAGTCTGCAA	0.388			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3670-3672)Gaa>Taa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							103	108	106					15																	91347508		2198	4298	6496	SO:0001587	stop_gained	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91347508G>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3670G>T	15.37:g.91347508G>T	ENSP00000347232:p.Glu1224*					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.E1224*	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		19	3788	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1224			HRDC.		Q52M96	Nonsense_Mutation	SNP	ENST00000355112.3	37	c.3670G>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	44	10.542031	0.99424	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	.	.	.	5.91	5.91	0.95273	.	0.278177	0.39544	N	0.001330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-14.6196	17.7921	0.88555	0.0:0.0:1.0:0.0	.	.	.	.	X	1224;854;411	.	ENSP00000347232:E1224X	E	+	1	0	BLM	89148512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.802000	0.96397	0.655000	0.94253	GAA		0.388	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			139	592	1	0	1.4778e-69	1	1.87562e-69	139	592					T	91347508	G	T	91347508	4	4	79	1	0	0	0	0	0	1	0	0	1447	943	33	3	3740	3	BLM	15	91347508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	91347508	11183884	15729	26046											
FURIN	5045	broad.mit.edu	37	chr15	91424215	91424215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcccctgaggggctgccCgtacctccagaaagcagtgg	13	15	0	2	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	579					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622													C|||	4	0.000798722	0.0015	0.0	5008	,	,		18223	0.001		0.0	False		,,,				2504	0.001					ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1735-1737)ccC>ccT		furin (paired basic amino acid cleaving enzyme)		C		4,4392	8.1+/-20.4	0,4,2194	87	94	92		1737	-5.9	0	15	dbSNP_134	92	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,5,6491	TT,TC,CC		0.0116,0.091,0.0385		579/795	91424215	5,12987	2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424215C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1737C>T	15.37:g.91424215C>T							p.P579P	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		15	2016	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		579			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1737C>T	CCDS10364.1																																																																																				0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		42	496	0	0	0	1	0	42	496					T	91424215	C	T	91424215	2	4	79	1	0	0	0	0	0	0	0	1	6126	639	23	1		1	FURIN	15	91424215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76707	91424215	11107177	15730	26047											
FURIN	5045	broad.mit.edu	37	chr15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcgccccccaagtcctcGatacgcactatagcaccgag	9	16	0	0	rs145582614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	624					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18211	0.0		0.0	False		,,,				2504	0.0					ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1870-1872)Gat>Aat		furin (paired basic amino acid cleaving enzyme)		G	ASN/ASP	7,4387	12.9+/-30.5	0,7,2190	72	66	68		1870	1.1	0	15	dbSNP_134	68	0,8596		0,0,4298	yes	missense	FURIN	NM_002569.2	23	0,7,6488	AA,AG,GG		0.0,0.1593,0.0539	benign	624/795	91424593	7,12983	2197	4298	6495	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424593G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1870G>A	15.37:g.91424593G>A	ENSP00000268171:p.Asp624Asn						p.D624N	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2149	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		624			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1870G>A	CCDS10364.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.019	-1.466039	0.01053	0.001593	0.0	ENSG00000140564	ENST00000268171	D	0.87103	-2.21	5.02	1.07	0.20283	Growth factor, receptor (1);	0.663946	0.15833	N	0.242409	T	0.58090	0.2098	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53669	-0.8406	10	0.10111	T	0.7	-2.6261	8.3769	0.32449	0.7967:0.0:0.2033:0.0	.	624	P09958	FURIN_HUMAN	N	624	ENSP00000268171:D624N	ENSP00000268171:D624N	D	+	1	0	FURIN	89225597	0.212000	0.23540	0.001000	0.08648	0.046000	0.14306	2.576000	0.46033	0.017000	0.15025	0.555000	0.69702	GAT		0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		120	463	0	0	0	1	0	120	463					A	91424593	G	A	91424593	3	1	79	1	0	0	0	0	1	0	0	0	6126	1058	37	1	1928	1	FURIN	15	91424593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	378	91424593	11106799	15731	26048											
FES	2242	broad.mit.edu	37	chr15	91435948	91435948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttcaggggaactttggCgaagtgttcagcggacgcct	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	ENST00000328850.3	+	14	1861	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000394300.3_Silent_p.G515G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAACTTTGGCGAAGTGTTCA	0.597																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1717-1719)ggC>ggT		feline sarcoma oncogene							64	57	59					15																	91435948		2197	4297	6494	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91435948C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1719C>T	15.37:g.91435948C>T						FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000394300.3_Silent_p.G515G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G	p.G573G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		14	1861	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		573			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.1719C>T	CCDS10365.1																																																																																				0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		19	78	0	0	0	1	0	19	78					T	91435948	C	T	91435948	2	4	79	1	0	0	0	0	0	0	0	1	5845	755	27	1		1	FES	15	91435948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11355	91435948	11095444	15732	26049											
MAN2A2	4122	broad.mit.edu	37	chr15	91447469	91447469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaggtgacagtgtgtgGggctgccatcttctgtgtgg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91447469G>A	ENST00000559717.1	+	2	491	c.32G>A	c.(31-33)gGg>gAg	p.G11E	MAN2A2_ENST00000360468.3_Missense_Mutation_p.G11E			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	11					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAGTGTGTGGGGCTGCCATC	0.567																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(31-33)gGg>gAg		mannosidase, alpha, class 2A, member 2							186	176	180					15																	91447469		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91447469G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.32G>A	15.37:g.91447469G>A	ENSP00000452948:p.Gly11Glu					MAN2A2_ENST00000559717.1_Missense_Mutation_p.G11E	p.G11E	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		1	50	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		11					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.32G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699651	0.96802	.	.	ENSG00000196547	ENST00000360468	T	0.78816	-1.21	5.14	5.14	0.70334	.	0.104809	0.64402	D	0.000003	D	0.85465	0.5703	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.86549	0.1833	10	0.87932	D	0	-38.6804	17.5858	0.87981	0.0:0.0:1.0:0.0	.	11;11	P49641-1;P49641	.;MA2A2_HUMAN	E	11	ENSP00000353655:G11E	ENSP00000353655:G11E	G	+	2	0	MAN2A2	89248473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	2.678000	0.91216	0.555000	0.69702	GGG		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		17	631	0	0	0	1	0	17	631					A	91447469	G	A	91447469	3	1	79	1	0	0	0	0	1	0	0	0	9256	1232	43	2	34	2	MAN2A2	15	91447469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11521	91447469	11083923	15733	26050											
MAN2A2	4122	broad.mit.edu	37	chr15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaccctcggcggagaccGcactcatcttacaccgcaag	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000559717.1	+	22	3676	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000558538.1_3'UTR|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1073					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3217-3219)Gca>Aca		mannosidase, alpha, class 2A, member 2							49	41	44					15																	91461902		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91461902G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3217G>A	15.37:g.91461902G>A	ENSP00000452948:p.Ala1073Thr					MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000559717.1_Missense_Mutation_p.A1073T	p.A1073T	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		21	3235	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1073					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3217G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528441	0.96446	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.95	5.95	0.96441	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.995;0.997	D	0.91919	0.5546	10	0.59425	D	0.04	-17.2714	20.458	0.99154	0.0:0.0:1.0:0.0	.	581;701;1073	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	T	1073;581;263	ENSP00000353655:A1073T;ENSP00000388221:A581T;ENSP00000394372:A263T	ENSP00000353655:A1073T	A	+	1	0	MAN2A2	89262906	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	7.414000	0.80117	2.835000	0.97688	0.650000	0.86243	GCA		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		24	149	0	0	0	1	0	24	149					A	91461902	G	A	91461902	3	1	79	1	0	0	0	0	1	0	0	0	9256	1087	38	1	3299	1	MAN2A2	15	91461902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14433	91461902	11069490	15734	26051											
MAN2A2	4122	broad.mit.edu	37	chr15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgctacctttcgcctccGcttgggttagggcttcttgt	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000559717.1	+	23	3902	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1148					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTCGCCTCCGCTTGGGTTAG	0.527																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3442-3444)cGc>cAc		mannosidase, alpha, class 2A, member 2							136	115	122					15																	91463007		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91463007G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3443G>A	15.37:g.91463007G>A	ENSP00000452948:p.Arg1148His					MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R1148H	p.R1148H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		22	3461	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1148					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3443G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227900	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	Glycoside hydrolase-type carbohydrate-binding (1);	0.128109	0.52532	D	0.000073	T	0.78451	0.4285	L	0.52759	1.655	0.51233	D	0.99991	P;P;B	0.37636	0.603;0.603;0.051	B;B;B	0.28709	0.093;0.059;0.023	T	0.79818	-0.1643	10	0.48119	T	0.1	-29.5313	19.2433	0.93891	0.0:0.0:1.0:0.0	.	656;776;1148	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	1148;656;338	ENSP00000353655:R1148H;ENSP00000388221:R656H;ENSP00000394372:R338H	ENSP00000353655:R1148H	R	+	2	0	MAN2A2	89264011	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.440000	0.59975	2.636000	0.89361	0.555000	0.69702	CGC		0.527	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		15	389	0	0	0	1	0	15	389					A	91463007	G	A	91463007	3	1	79	1	0	0	0	0	1	0	0	0	9256	1087	38	1	3529	1	MAN2A2	15	91463007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	91463007	11068385	15735	26052											
PRC1	9055	broad.mit.edu	37	chr15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactgtcagagagggacgGatccttctaagaacaaagaa	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA	NM_003981.3	NP_003972			protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAGAGGGACGGATCCTTCTAA	0.488																																						ENST00000394249.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1756-1758)Ccg>Tcg		protein regulator of cytokinesis 1							108	87	95					15																	91512344		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91512344G>A	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000394249.3:c.1756C>T	15.37:g.91512344G>A	ENSP00000377793:p.Pro586Ser					PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000361188.5_Intron	p.P586S	NM_003981.3	NP_003972.1	O43663	PRC1_HUMAN			14	1833	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		586			Unstructured, Arg/Lys rich.			Missense_Mutation	SNP	ENST00000394249.3	37	c.1756C>T	CCDS32334.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662517	0.67700	.	.	ENSG00000198901	ENST00000394249;ENST00000555455	T	0.32023	1.47	5.97	5.05	0.67936	.	0.192367	0.32970	N	0.005440	T	0.27205	0.0667	N	0.22421	0.69	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.02202	-1.1196	10	0.07325	T	0.83	-15.7032	10.1602	0.42847	0.0881:0.0:0.9119:0.0	.	586	O43663	PRC1_HUMAN	S	586;189	ENSP00000377793:P586S	ENSP00000377793:P586S	P	-	1	0	PRC1	89313348	0.999000	0.42202	0.968000	0.41197	0.959000	0.62525	2.695000	0.47043	2.851000	0.98039	0.644000	0.83932	CCG		0.488	PRC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414757.1	NM_003981		21	143	0	0	0	1	0	21	143					A	91512344	G	A	91512344	3	1	79	1	0	0	0	0	1	0	0	0	12493	1174	41	2	114	2	PRC1	15	91512344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49337	91512344	11019048	15736	26053											
VPS33B	26276	broad.mit.edu	37	chr15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctcaatgtagctggtgCtctcccggatgttgaacccc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N|VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	379					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(1135-1137)aGc>aAc		vacuolar protein sorting 33 homolog B (yeast)							111	99	103					15																	91548319		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91548319C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1136G>A	15.37:g.91548319C>T	ENSP00000327650:p.Ser379Asn					VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	p.S379N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			15	1489	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		379					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.1136G>A	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742781	0.69418	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76578	-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.124870	0.85682	D	0.000000	T	0.72661	0.3488	L	0.46157	1.445	0.50313	D	0.999867	B;B	0.15719	0.011;0.014	B;B	0.15870	0.008;0.014	T	0.65508	-0.6151	10	0.17369	T	0.5	-21.0209	18.3522	0.90342	0.0:1.0:0.0:0.0	.	352;379	F5H008;Q9H267	.;VP33B_HUMAN	N	379;352;288;334	ENSP00000327650:S379N;ENSP00000444053:S352N;ENSP00000446267:S288N	ENSP00000327650:S379N	S	-	2	0	VPS33B	89349323	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.517000	0.73759	2.873000	0.98535	0.561000	0.74099	AGC		0.567	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		51	304	0	0	0	1	0	51	304					T	91548319	C	T	91548319	3	4	79	1	0	0	0	0	1	0	0	0	17256	797	28	2	753	2	VPS33B	15	91548319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35975	91548319	10983073	15737	26054											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459545	92459545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccccgacctcatctgccGcaaccggacggctaccaaca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	ENST00000318445.6	+	2	717	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585). {ECO:0000305}.	sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCATCTGCCGCAACCGGACG	0.701																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(502-504)cGc>cAc		solute carrier organic anion transporter family, member 3A1							18	16	17					15																	92459545		2190	4289	6479	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459545G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.503G>A	15.37:g.92459545G>A	ENSP00000320634:p.Arg168His					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	717	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		168	R -> L (in Ref. 7; AAH00585).				A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.503G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107290	0.56291	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39406	1.08;1.08;1.08	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.32823	0.0842	N	0.11724	0.165	0.80722	D	1	P;D;B	0.59767	0.945;0.986;0.165	B;P;B	0.44696	0.258;0.458;0.046	T	0.27226	-1.0080	10	0.48119	T	0.1	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	H	168;168;110	ENSP00000320634:R168H;ENSP00000387846:R168H;ENSP00000450559:R110H	ENSP00000320634:R168H	R	+	2	0	SLCO3A1	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC		0.701	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		16	56	0	0	0	1	0	16	56					A	92459545	G	A	92459545	3	1	79	1	0	0	0	0	1	0	0	0	14778	1087	38	1	509	1	SLCO3A1	15	92459545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911226	92459545	10071847	15738	26055											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459678	92459678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggaggaaggactcctcGctctatataggtaggagctg	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000318445.6	+	2	850	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000424469.2_Silent_p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGGACTCCTCGCTCTATATAG	0.582																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(634-636)tcG>tcA		solute carrier organic anion transporter family, member 3A1							14	16	15					15																	92459678		2197	4297	6494	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459678G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.636G>A	15.37:g.92459678G>A						SLCO3A1_ENST00000424469.2_Silent_p.S212S	p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	850	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		212					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.636G>A	CCDS10371.1																																																																																				0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		20	65	0	0	0	1	0	20	65					A	92459678	G	A	92459678	2	1	79	1	0	0	0	0	0	0	0	1	14778	1074	38	1		1	SLCO3A1	15	92459678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133	92459678	10071714	15739	26056											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647576	92647576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggctttctgctctgCggtgccttactcttcttctc	11	12	5	0	rs552651566		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000318445.6	+	4	1027	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.C271C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	271					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTCTGCTCTGCGGTGCCTTAC	0.577																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(811-813)tgC>tgT		solute carrier organic anion transporter family, member 3A1							222	196	205					15																	92647576		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92647576C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.813C>T	15.37:g.92647576C>T						SLCO3A1_ENST00000424469.2_Silent_p.C271C|SLCO3A1_ENST00000555549.1_3'UTR	p.C271C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1027	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		271					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.813C>T	CCDS10371.1																																																																																				0.577	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		86	851	0	0	0	1	0	86	851					T	92647576	C	T	92647576	2	4	79	1	0	0	0	0	0	0	0	1	14778	776	27	1		1	SLCO3A1	15	92647576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187898	92647576	9883816	15740	26057											
CHD2	1106	broad.mit.edu	37	chr15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcagcggacacagtcGtcatctttgactctgactgg	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	883	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACACAGTCGTCATCTTTGA	0.493																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2647-2649)Gtc>Atc		chromodomain helicase DNA binding protein 2							115	103	107					15																	93521533		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93521533G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2647G>A	15.37:g.93521533G>A	ENSP00000377747:p.Val883Ile					CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		21	3715	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		883			Helicase C-terminal.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2647G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538166	0.27475	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.71461	-0.57;-0.57	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.31102	U	0.008259	T	0.44074	0.1276	N	0.00894	-1.105	0.80722	D	1	B;P;P	0.35923	0.158;0.528;0.477	B;B;B	0.38500	0.241;0.275;0.051	T	0.56836	-0.7913	10	0.02654	T	1	-17.3595	20.1001	0.97870	0.0:0.0:1.0:0.0	.	883;883;883	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	I	883	ENSP00000377747:V883I;ENSP00000451366:V883I	ENSP00000377747:V883I	V	+	1	0	CHD2	91322537	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GTC		0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		78	347	0	0	0	1	0	78	347					A	93521533	G	A	93521533	3	1	79	1	0	0	0	0	1	0	0	0	3334	1145	40	1	2729	1	CHD2	15	93521533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873957	93521533	9009859	15741	26058											
MCTP2	55784	broad.mit.edu	37	chr15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccatggatctggataAaccatctgtttggggctcat	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	5					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATCTGGATAAACCATCTGTT	0.433																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(13-15)aAa>aCa		multiple C2 domains, transmembrane 2							86	88	87					15																	94841508		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841508A>C	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.14A>C	15.37:g.94841508A>C	ENSP00000350377:p.Lys5Thr					MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	p.K5T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	14	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		5					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.14A>C	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534538	0.45073	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.80033	-1.33;-0.94;-0.75	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000029	D	0.84374	0.5458	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	D;D;D;P;D	0.83275	0.973;0.996;0.915;0.866;0.973	D	0.86282	0.1668	10	0.72032	D	0.01	.	14.4272	0.67225	1.0:0.0:0.0:0.0	.	5;5;5;5;5	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	5	ENSP00000438521:K5T;ENSP00000395109:K5T;ENSP00000350377:K5T	ENSP00000350377:K5T	K	+	2	0	MCTP2	92642512	1.000000	0.71417	0.804000	0.32291	0.100000	0.18952	4.396000	0.59684	1.897000	0.54924	0.533000	0.62120	AAA		0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		93	406	0	0	0	1	0	93	406					C	94841508	A	C	94841508	3	2	79	1	0	0	0	0	1	0	0	0	9442	14	1	4	16	4	MCTP2	15	94841508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1319975	94841508	7689884	15742	26059											
MCTP2	55784	broad.mit.edu	37	chr15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataaaccatctgtttgggGctcattaaaacagcggacca	10	9	2	0	rs367656045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	10					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGTTTGGGGCTCATTAAAA	0.463																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(28-30)gGc>gAc		multiple C2 domains, transmembrane 2							95	97	96					15																	94841523		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841523G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.29G>A	15.37:g.94841523G>A	ENSP00000350377:p.Gly10Asp					MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	p.G10D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	29	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		10					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.29G>A	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025205	0.35701	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74947	-0.89;-0.63;-0.48	5.02	2.11	0.27256	.	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.46327	0.587;0.412;0.289;0.803;0.876	B;B;B;B;P	0.48166	0.245;0.137;0.065;0.249;0.569	T	0.58092	-0.7697	10	0.42905	T	0.14	.	8.3384	0.32228	0.3112:0.0:0.6888:0.0	.	10;10;10;10;10	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	D	10	ENSP00000438521:G10D;ENSP00000395109:G10D;ENSP00000350377:G10D	ENSP00000350377:G10D	G	+	2	0	MCTP2	92642527	0.999000	0.42202	0.589000	0.28718	0.452000	0.32318	2.963000	0.49184	0.170000	0.19704	0.655000	0.94253	GGC		0.463	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		96	417	0	0	0	1	0	96	417					A	94841523	G	A	94841523	3	1	79	1	0	0	0	0	1	0	0	0	9442	1203	42	2	31	2	MCTP2	15	94841523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	94841523	7689869	15743	26060											
MCTP2	55784	broad.mit.edu	37	chr15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtatttcattccactgCggtacatcattttaatctgg	6	8	3	0	rs202093309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	817					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCCACTGCGGTACATCAT	0.408																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2449-2451)Cgg>Tgg		multiple C2 domains, transmembrane 2		C	TRP/ARG,TRP/ARG	0,4394		0,0,2197	173	162	166		2284,2449	5.3	1	15		166	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	MCTP2	NM_001159643.1,NM_018349.3	101,101	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	762/824,817/879	95013650	1,12989	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95013650C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2449C>T	15.37:g.95013650C>T	ENSP00000350377:p.Arg817Trp					MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	p.R817W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		20	2449	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		817					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2449C>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052804	0.75960	0.0	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.78003	-1.14;-0.56	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	12.5357	0.56140	0.2773:0.7227:0.0:0.0	.	762;817	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	762;817	ENSP00000395109:R762W;ENSP00000350377:R817W	ENSP00000350377:R817W	R	+	1	2	MCTP2	92814654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.820000	0.55693	2.645000	0.89757	0.650000	0.86243	CGG		0.408	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		87	494	0	0	0	1	0	87	494					T	95013650	C	T	95013650	3	4	79	1	0	0	0	0	1	0	0	0	9442	759	27	1	2603	1	MCTP2	15	95013650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172127	95013650	7517742	15744	26061											
NR2F2	7026	broad.mit.edu	37	chr15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgacaagcagcagcaGcagcaacacatcgagtgcgt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000453270.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	73	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(217-219)caG>caT		nuclear receptor subfamily 2, group F, member 2							24	19	21					15																	96875553		2192	4295	6487	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875553G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.219G>T	15.37:g.96875553G>T	ENSP00000377721:p.Gln73His					NR2F2_ENST00000421109.2_Intron	p.Q73H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1608	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		73			Poly-Gln.		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.219G>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054866	0.19907	.	.	ENSG00000185551	ENST00000394166	D	0.93604	-3.25	4.53	-0.248	0.13015	Zinc finger, NHR/GATA-type (1);	0.234402	0.30277	N	0.009992	D	0.83954	0.5366	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.35550	0.205	T	0.78262	-0.2272	10	0.44086	T	0.13	.	10.2126	0.43150	0.3553:0.0:0.6447:0.0	.	73	P24468	COT2_HUMAN	H	73	ENSP00000377721:Q73H	ENSP00000377721:Q73H	Q	+	3	2	NR2F2	94676557	.	.	0.995000	0.50966	0.297000	0.27493	.	.	0.041000	0.15688	-0.379000	0.06801	CAG		0.697	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			9	50	1	0	0.000274275	1	0.000278163	9	50					T	96875553	G	T	96875553	3	4	79	1	0	0	0	0	1	0	0	0	10670	962	34	3	268	3	NR2F2	15	96875553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1861903	96875553	5655839	15745	26062											
ARRDC4	91947	broad.mit.edu	37	chr15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttataggtgaaggcAtcattttattacagcctgga	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	106					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(316-318)Atc>Gtc		arrestin domain containing 4							114	117	116					15																	98508838		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98508838A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.316A>G	15.37:g.98508838A>G	ENSP00000268042:p.Ile106Val					ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	p.I106V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		2	480	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		106					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.316A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075076	0.08485	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.12984	2.63;3.34	5.81	-1.79	0.07932	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.240820	0.01691	N	0.026654	T	0.06600	0.0169	N	0.11927	0.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22556	-1.0213	10	0.11485	T	0.65	-10.3062	2.6754	0.05080	0.3704:0.1052:0.3795:0.1449	.	106;19	Q8NCT1;F5H824	ARRD4_HUMAN;.	V	19;106	ENSP00000443774:I19V;ENSP00000268042:I106V	ENSP00000268042:I106V	I	+	1	0	ARRDC4	96309842	0.066000	0.20996	0.015000	0.15790	0.964000	0.63967	-0.056000	0.11787	-0.328000	0.08539	0.455000	0.32223	ATC		0.308	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		73	337	0	0	0	1	0	73	337					G	98508838	A	G	98508838	3	3	79	1	0	0	0	0	1	0	0	0	986	217	8	4	322	4	ARRDC4	15	98508838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1633285	98508838	4022554	15746	26063											
ARRDC4	91947	broad.mit.edu	37	chr15	98513913	98513913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgagggagaagtgtgCtgtcctgtgtttgcctgtat	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	380					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(1138-1140)tgC>tgT		arrestin domain containing 4							122	102	108					15																	98513913		2197	4298	6495	SO:0001819	synonymous_variant	91947				signal transduction			g.chr15:98513913C>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1140C>T	15.37:g.98513913C>T						ARRDC4_ENST00000538249.1_Silent_p.C293C	p.C380C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		7	1304	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		380					Q6NSI9	Silent	SNP	ENST00000268042.6	37	c.1140C>T	CCDS10377.1																																																																																				0.418	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		76	354	0	0	0	1	0	76	354					T	98513913	C	T	98513913	2	4	79	1	0	0	0	0	0	0	0	1	986	805	28	2		2	ARRDC4	15	98513913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	98513913	4017479	15747	26064											
FAM169B	283777	broad.mit.edu	37	chr15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcttccaaaaataatggCgtttagaatgaaaagcacaa	6	7	1	2	rs553386234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383													C|||	5	0.000998403	0.0	0.0	5008	,	,		22898	0.0		0.0	False		,,,				2504	0.0051					ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(49-51)Gcc>Acc		family with sequence similarity 169, member B							86	83	84					15																	99023964		1867	4094	5961	SO:0001583	missense	283777							g.chr15:99023964C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.49G>A	15.37:g.99023964C>T	ENSP00000453554:p.Ala17Thr					FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			4	298	-			17					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.49G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291580	0.23564	.	.	ENSG00000185087	ENST00000332908	T	0.71817	-0.6	5.27	2.1	0.27182	.	0.694331	0.13929	N	0.353052	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16070	-1.0415	10	0.17369	T	0.5	-6.2819	2.9599	0.05889	0.3016:0.4772:0.1264:0.0949	.	17	Q8N8A8	F169B_HUMAN	T	17	ENSP00000332615:A17T	ENSP00000332615:A17T	A	-	1	0	FAM169B	96841487	0.982000	0.34865	0.113000	0.21522	0.798000	0.45092	1.370000	0.34238	1.180000	0.42898	0.655000	0.94253	GCC		0.383	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		39	210	0	0	0	1	0	39	210					T	99023964	C	T	99023964	3	4	79	1	0	0	0	0	1	0	0	0	5509	768	27	1	545	1	FAM169B	15	99023964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510051	99023964	3507428	15748	26065											
IGF1R	3480	broad.mit.edu	37	chr15	99456414	99456414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccctggactcagtaCgccgtttacgtcaaggctgt	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000268035.6	+	8	2342	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000558762.1_Silent_p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	577	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGACTCAGTACGCCGTTTACG	0.572																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1729-1731)taC>taT		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						140	98	112					15																	99456414		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456414C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1731C>T	15.37:g.99456414C>T						IGF1R_ENST00000558762.1_Silent_p.Y577Y	p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	2342	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		577			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.1731C>T	CCDS10378.1																																																																																				0.572	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		54	305	0	0	0	1	0	54	305					T	99456414	C	T	99456414	2	4	79	1	0	0	0	0	0	0	0	1	7601	547	19	1		1	IGF1R	15	99456414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432450	99456414	3074978	15749	26066											
IGF1R	3480	broad.mit.edu	37	chr15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcacattgtaccgcatcGatatccacagctgcaaccac	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000268035.6	+	11	3015	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	802	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GTACCGCATCGATATCCACAG	0.517																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2404-2406)Gat>Aat		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						109	108	108					15																	99465579		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99465579G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2404G>A	15.37:g.99465579G>A	ENSP00000268035:p.Asp802Asn					IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		11	3015	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		802					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2404G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438773	0.96168	.	.	ENSG00000140443	ENST00000268035	T	0.76448	-1.02	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.88672	0.6500	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.48	D;B	0.97110	1.0;0.048	D	0.88542	0.3110	10	0.51188	T	0.08	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	802;802	C9J5X1;P08069	.;IGF1R_HUMAN	N	802	ENSP00000268035:D802N	ENSP00000268035:D802N	D	+	1	0	IGF1R	97283102	1.000000	0.71417	0.953000	0.39169	0.880000	0.50808	9.848000	0.99507	2.567000	0.86603	0.655000	0.94253	GAT		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		72	300	0	0	0	1	0	72	300					A	99465579	G	A	99465579	3	1	79	1	0	0	0	0	1	0	0	0	7601	1058	37	1	2446	1	IGF1R	15	99465579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9165	99465579	3065813	15750	26067											
IGF1R	3480	broad.mit.edu	37	chr15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgatcatcgctctgcccGtcgctgtcctgttgatcgtg	10	13	3	2	rs541998637		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCTCTGCCCGTCGCTGTCCT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.0					ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2824-2826)Gtc>Atc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						219	192	201					15																	99472828		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99472828G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2824G>A	15.37:g.99472828G>A	ENSP00000268035:p.Val942Ile					IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	p.V942I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		14	3435	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		942					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2824G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	IGF1R	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC		0.443	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		39	446	0	0	0	1	0	39	446					A	99472828	G	A	99472828	3	1	79	1	0	0	0	0	1	0	0	0	7601	1145	40	1	2878	1	IGF1R	15	99472828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7249	99472828	3058564	15751	26068											
IGF1R	3480	broad.mit.edu	37	chr15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctgccccagtcttcgAcctgctgatccttggatcct	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000268035.6	+	21	4707	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1366					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCAGTCTTCGACCTGCTGATC	0.612																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4096-4098)Acc>Gcc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500663A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.4096A>G	15.37:g.99500663A>G	ENSP00000268035:p.Thr1366Ala					IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	p.T1366A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4707	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1366					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.4096A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	7.662	0.685143	0.14973	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.67	4.55	0.56014	.	0.101038	0.41396	D	0.000887	T	0.24812	0.0602	N	0.00237	-1.79	0.42249	D	0.991965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47156	-0.9139	10	0.02654	T	1	.	3.2816	0.06917	0.6614:0.0:0.3386:0.0	.	1365;1366	C9J5X1;P08069	.;IGF1R_HUMAN	A	1366	ENSP00000268035:T1366A	ENSP00000268035:T1366A	T	+	1	0	IGF1R	97318186	1.000000	0.71417	0.923000	0.36655	0.965000	0.64279	7.583000	0.82559	2.159000	0.67721	0.455000	0.32223	ACC		0.612	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		60	274	0	0	0	1	0	60	274					G	99500663	A	G	99500663	3	3	79	1	0	0	0	0	1	0	0	0	7601	275	10	4	4178	4	IGF1R	15	99500663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27835	99500663	3030729	15752	26069											
PGPEP1L	145814	broad.mit.edu	37	chr15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttttcttcgaactgggCtctgtgcttgggctttccca	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000378919.6	-	5	746	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A127T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	181							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(379-381)Gcc>Acc		pyroglutamyl-peptidase I-like							56	56	56					15																	99511757		1930	4123	6053	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99511757C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.541G>A	15.37:g.99511757C>T	ENSP00000368199:p.Ala181Thr					PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A181T|RP11-654A16.3_ENST00000559468.1_RNA	p.A127T	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			5	1184	-			181					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.379G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174029	0.21704	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.31769	1.48	5.39	3.52	0.40303	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.31943	-0.9925	9	0.12430	T	0.62	.	7.48	0.27400	0.0:0.7385:0.0:0.2615	.	181	A6NFU8	PGPIL_HUMAN	T	181;174	ENSP00000368199:A181T	ENSP00000368199:A181T	A	-	1	0	PGPEP1L	97329280	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.273000	0.18662	0.669000	0.31146	0.655000	0.94253	GCC		0.537	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		14	93	0	0	0	1	0	14	93					T	99511757	C	T	99511757	3	4	79	1	0	0	0	0	1	0	0	0	11846	797	28	2	53	2	PGPEP1L	15	99511757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11094	99511757	3019635	15753	26070											
SYNM	23336	broad.mit.edu	37	chr15	99666928	99666928	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaattatttttacaggGccttattggaaggagaaagt	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000560674.1	+	3	548	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Splice_Site_p.A312T|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Splice_Site_p.A312T			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	313	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTTTTACAGGGCCTTATTGGA	0.388																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.e4-1		synemin, intermediate filament protein							86	82	83					15																	99666928		1836	4097	5933	SO:0001630	splice_region_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99666928G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.78-1G>A	15.37:g.99666928G>A						SYNM_ENST00000328642.7_Splice_Site_p.A312_splice|SYNM_ENST00000560674.1_Splice_Site_p.A27_splice|SYNM_ENST00000561323.1_3'UTR	p.A312_splice	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			4	1054	+			313			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Splice_Site	SNP	ENST00000560674.1	37	c.932_splice		.	.	.	.	.	.	.	.	.	.	G	34	5.325606	0.95708	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.88664	-2.41;-2.41	5.83	5.83	0.93111	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95040	0.8394	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.939	D	0.95146	0.8268	8	0.87932	D	0	.	18.6976	0.91607	0.0:0.0:1.0:0.0	.	313;312	O15061;C9JIE4	SYNEM_HUMAN;.	T	312	ENSP00000336775:A312T;ENSP00000330469:A312T	ENSP00000330469:A312T	A	+	1	0	SYNM	97484451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GCC		0.388	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	Missense_Mutation	3	34	0	0	0	1	0	3	34					A	99666928	G	A	99666928	5	1	79	1	0	0	0	0	0	0	1	0	15507	1217	42	2	946	2	SYNM	15	99666928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155171	99666928	2864464	15754	26071											
SYNM	23336	broad.mit.edu	37	chr15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaggtgtccccgaaaGgtttgcagacgcctgtgaag	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000560674.1	+	4	1394	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G594S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	595	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCCCCGAAAGGTTTGCAGAC	0.557																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1780-1782)Ggt>Agt		synemin, intermediate filament protein							71	72	72					15																	99670348		2005	4177	6182	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670348G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.925G>A	15.37:g.99670348G>A	ENSP00000453040:p.Gly309Ser					SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000560674.1_Missense_Mutation_p.G309S|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	p.G594S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1900	+			595			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1780G>A		.	.	.	.	.	.	.	.	.	.	G	12.06	1.823962	0.32237	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.30981	1.51;1.51	5.76	1.73	0.24493	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.22152	0.032;0.038	T	0.21348	-1.0248	8	0.31617	T	0.26	.	5.3931	0.16255	0.2965:0.1425:0.5611:0.0	.	595;594	O15061;C9JIE4	SYNEM_HUMAN;.	S	594	ENSP00000336775:G594S;ENSP00000330469:G594S	ENSP00000330469:G594S	G	+	1	0	SYNM	97487871	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.596000	0.24044	0.341000	0.23771	0.655000	0.94253	GGT		0.557	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		50	272	0	0	0	1	0	50	272					A	99670348	G	A	99670348	3	1	79	1	0	0	0	0	1	0	0	0	15507	1000	35	2	1796	2	SYNM	15	99670348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3420	99670348	2861044	15755	26072											
SYNM	23336	broad.mit.edu	37	chr15	99672987	99672987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtagaggcgatccgcagCcggacacaggaagcgggagc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000560674.1	+	5	3097	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.S1473S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1474	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CGATCCGCAGCCGGACACAGG	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4417-4419)agC>agT		synemin, intermediate filament protein							159	168	165					15																	99672987		2053	4183	6236	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672987C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2628C>T	15.37:g.99672987C>T						SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000560674.1_Silent_p.S876S|SYNM_ENST00000561323.1_3'UTR	p.S1473S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4539	+			1474			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.4419C>T																																																																																					0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		167	952	0	0	0	1	0	167	952					T	99672987	C	T	99672987	2	4	79	1	0	0	0	0	0	0	0	1	15507	738	26	2		2	SYNM	15	99672987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2639	99672987	2858405	15756	26073											
TTC23	64927	broad.mit.edu	37	chr15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagggcttgctctacacCtgctaattctctcaatatgg	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000558613.1_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	236										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(706-708)Ggt>Agt		tetratricopeptide repeat domain 23							274	241	252					15																	99740177		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99740177C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.706G>A	15.37:g.99740177C>T	ENSP00000377690:p.Gly236Ser					TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S	p.G236S			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		9	1523	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		236					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.706G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808939	0.90707	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.75704	2.57;2.57;2.57;2.57;0.03;-0.96	5.87	3.98	0.46160	Tetratricopeptide-like helical (1);	0.299368	0.36740	N	0.002439	T	0.66436	0.2789	L	0.60455	1.87	0.09310	N	1	B;P	0.48294	0.291;0.908	B;P	0.44422	0.073;0.449	T	0.57087	-0.7871	10	0.07644	T	0.81	-3.1979	8.012	0.30359	0.1572:0.7622:0.0:0.0806	.	236;236	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	S	236	ENSP00000377690:G236S;ENSP00000377693:G236S;ENSP00000262074:G236S;ENSP00000377692:G236S;ENSP00000377688:G236S;ENSP00000457901:G236S	ENSP00000262074:G236S	G	-	1	0	TTC23	97557700	0.024000	0.19004	0.015000	0.15790	0.984000	0.73092	2.426000	0.44731	0.922000	0.37019	0.655000	0.94253	GGT		0.463	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		105	479	0	0	0	1	0	105	479					T	99740177	C	T	99740177	3	4	79	1	0	0	0	0	1	0	0	0	16744	681	24	2	661	2	TTC23	15	99740177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67190	99740177	2791215	15757	26074											
MEF2A	4205	broad.mit.edu	37	chr15	100185786	100185787	+	Frame_Shift_Ins	INS	-	-	T													tcacttttacaaagagaaagINStttggattaatgaagaaagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100185786_100185787insT	ENST00000557785.1	+	4	424_425	c.75_76insT	c.(76-78)tttfs	p.F26fs	MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000354410.5_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558856.1_Intron	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	26	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAAAGAGAAAGTTTGGATTAAT	0.317																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(73-78)aattggfs		myocyte enhancer factor 2A																																				SO:0001589	frameshift_variant	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100185786_100185787insT		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.78dupT	15.37:g.100185789_100185789dupT	ENSP00000453441:p.Phe26fs					MEF2A_ENST00000557785.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558812.1_Intron	p.W26fs	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	704_705	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		26			Lys-rich (basic).|MADS-box.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Frame_Shift_Ins	INS	ENST00000557785.1	37	c.75_76insT	CCDS53978.1																																																																																				0.317	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			70	332						70	332	---	---	---	---	T	100185787	-	T	100185786	7	5	79	1	0	1	1	0	0	0	0	0	9496	1020	36	0	81	0	MEF2A	15	100185786	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	445609	100185786	2345606	15758	26075											
MEF2A	4205	broad.mit.edu	37	chr15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgattttattttcaaacgaGgccctgtaagtacttttact	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000557785.1	+	5	734	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	131					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTTCAAACGAGGCCCTGTAAG	0.388																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(385-387)Ggc>Tgc		myocyte enhancer factor 2A							175	159	163					15																	100211654		1568	3582	5150	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211654G>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.385G>T	15.37:g.100211654G>T	ENSP00000453441:p.Gly129Cys					MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C	p.G129C			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	704	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		129					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.385G>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388376	0.61956	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	.	.	.	.	.	T	0.53948	0.1828	N	0.01352	-0.895	0.34472	D	0.702941	D;D;B;P	0.62365	0.965;0.991;0.001;0.931	P;P;B;P	0.62298	0.855;0.9;0.004;0.671	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	61;50;129;129	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	C	129;129;61	ENSP00000404110:G129C;ENSP00000337202:G129C;ENSP00000399460:G61C	ENSP00000337202:G129C	G	+	1	0	MEF2A	98029177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.694000	0.91930	0.561000	0.74099	GGC		0.388	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			54	328	1	0	3.53049e-34	1	4.19639e-34	54	328					T	100211654	G	T	100211654	3	4	79	1	0	0	0	0	1	0	0	0	9496	1000	35	3	395	3	MEF2A	15	100211654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25868	100211654	2319738	15759	26076											
LYSMD4	145748	broad.mit.edu	37	chr15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcagccatactgcagcGccagcttgttgaggctgtcc	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000409796.1	-	2	325	c.263C>T	c.(262-264)gCg>gTg	p.A88V	LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.R59C	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	88						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATACTGCAGCGCCAGCTTGTT	0.667																																						ENST00000344791.2																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(175-177)Cgc>Tgc		LysM, putative peptidoglycan-binding, domain containing 4							56	58	58					15																	100271942		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100271942G>A	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.263C>T	15.37:g.100271942G>A	ENSP00000386283:p.Ala88Val					LYSMD4_ENST00000409796.1_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000604213.1_Intron	p.R59C	NM_152449.2	NP_689662.2	Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		3	447	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		0					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.175C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.153457|5.153457	0.94645|0.94645	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T;T	0.57595|0.19105	0.39;0.39|2.17;2.17	5.03|5.03	5.03|5.03	0.67393|0.67393	Peptidoglycan-binding Lysin subgroup (1);|.	.|4.488390	.|0.00732	.|N	.|0.000950	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52842	1.0|0.956	D|B	0.79784|0.39152	0.993|0.292	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.72032	D|D	0|0.01	-23.904|-23.904	18.3844|18.3844	0.90462|0.90462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88|59	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	V|C	88|59	ENSP00000386283:A88V;ENSP00000333008:A88V|ENSP00000342840:R59C;ENSP00000400054:R59C	ENSP00000333008:A88V|ENSP00000342840:R59C	A|R	-|-	2|1	0|0	LYSMD4|LYSMD4	98089465|98089465	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.996000|0.996000	0.88848|0.88848	8.816000|8.816000	0.91979|0.91979	2.325000|2.325000	0.78763|0.78763	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.667	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		43	390	0	0	0	1	0	43	390					A	100271942	G	A	100271942	3	1	79	1	0	0	0	0	1	0	0	0	9166	1087	38	1	734	1	LYSMD4	15	100271942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60288	100271942	2259450	15760	26077											
ADAMTS17	170691	broad.mit.edu	37	chr15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttcggcggtggctggcGcatcttgtttgcatagaagt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592																																						ENST00000268070.4																			1	Substitution - Missense(1)	p.R1089C(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(3265-3267)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 17							63	60	61					15																	100514630		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100514630G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	15.37:g.100514630G>A	ENSP00000268070:p.Arg1089Cys						p.R1089C	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	22	3370	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		1089					Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.3265C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC		0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		14	461	0	0	0	1	0	14	461					A	100514630	G	A	100514630	3	1	79	1	0	0	0	0	1	0	0	0	262	1087	38	1	26	1	ADAMTS17	15	100514630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242688	100514630	2016762	15761	26078											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591811	100591811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgcacccttcccagccGctgtgggtccagatgaacaa	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	807	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTCCCAGCCGCTGTGGGTCC	0.527																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2419-2421)agC>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							151	153	153					15																	100591811		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100591811G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2421C>T	15.37:g.100591811G>A							p.S807S	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	17	2526	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		807			TSP type-1 2.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2421C>T	CCDS10383.1																																																																																				0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		179	822	0	0	0	1	0	179	822					A	100591811	G	A	100591811	2	1	79	1	0	0	0	0	0	0	0	1	262	1078	38	1		1	ADAMTS17	15	100591811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77181	100591811	1939581	15762	26079											
ADAMTS17	170691	broad.mit.edu	37	chr15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcttagcactgcacacacCtcctaagtaagcaattcctg	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGCACACACCTCCTAAGTAA	0.522																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(1093-1095)Ggt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 17							279	226	244					15																	100739611		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100739611C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1093G>T	15.37:g.100739611C>A	ENSP00000268070:p.Gly365Cys					ADAMTS17_ENST00000559976.1_5'UTR	p.G365C	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	8	1198	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		365			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1093G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638920	0.87760	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	122;365	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	C	365;122	ENSP00000268070:G365C	ENSP00000268070:G365C	G	-	1	0	ADAMTS17	98557134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GGT		0.522	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		122	536	1	0	3.50788e-48	1	4.32678e-48	122	536					A	100739611	C	A	100739611	3	1	79	1	0	0	0	0	1	0	0	0	262	681	24	3	2254	3	ADAMTS17	15	100739611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147800	100739611	1791781	15763	26080											
ADAMTS17	170691	broad.mit.edu	37	chr15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagggtctccaccGtgtgctcgctggtgagccgg	13	16	1	1	rs545485140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	233	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCTCCACCGTGTGCTCGCT	0.627																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(697-699)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							45	44	44					15																	100821525		2203	4299	6502	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821525G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.698C>T	15.37:g.100821525G>A	ENSP00000268070:p.Thr233Met						p.T233M	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	803	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		233			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.698C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032945	0.75504	.	.	ENSG00000140470	ENST00000268070	D	0.87491	-2.26	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.062019	0.64402	D	0.000009	D	0.90796	0.7110	L	0.46157	1.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.89864	0.4018	10	0.35671	T	0.21	.	18.0645	0.89387	0.0:0.0:1.0:0.0	.	233	Q8TE56	ATS17_HUMAN	M	233	ENSP00000268070:T233M	ENSP00000268070:T233M	T	-	2	0	ADAMTS17	98639048	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	5.800000	0.69108	2.259000	0.74868	0.462000	0.41574	ACG		0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		91	286	0	0	0	1	0	91	286					A	100821525	G	A	100821525	3	1	79	1	0	0	0	0	1	0	0	0	262	1145	40	1	2665	1	ADAMTS17	15	100821525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81914	100821525	1709867	15764	26081											
ALDH1A3	220	broad.mit.edu	37	chr15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggatcaactgctacaacGccctctatgcacaggctcca	7	15	2	0	rs147752643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	470					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1408-1410)Gcc>Acc		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)	G	THR/ALA	0,4406		0,0,2203	134	115	121		1408	5.2	0.5	15	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ALDH1A3	NM_000693.2	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	470/513	101448629	5,13001	2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101448629G>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1408G>A	15.37:g.101448629G>A	ENSP00000332256:p.Ala470Thr					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	p.A470T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		12	1940	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		470					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.1408G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280781	0.59758	0.0	5.81E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.14640	2.49	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050216	0.85682	D	0.000000	T	0.20495	0.0493	N	0.16833	0.445	0.58432	D	0.999999	D;P	0.71674	0.998;0.927	D;B	0.66084	0.941;0.184	T	0.03278	-1.1053	10	0.42905	T	0.14	.	14.5249	0.67881	0.0:0.0:0.853:0.147	.	374;470	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	470;374	ENSP00000332256:A470T	ENSP00000332256:A470T	A	+	1	0	ALDH1A3	99266152	1.000000	0.71417	0.485000	0.27403	0.340000	0.28889	5.457000	0.66672	2.430000	0.82344	0.643000	0.83706	GCC		0.512	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			61	324	0	0	0	1	0	61	324					A	101448629	G	A	101448629	3	1	79	1	0	0	0	0	1	0	0	0	492	1087	38	1	1454	1	ALDH1A3	15	101448629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627104	101448629	1082763	15765	26082											
LRRK1	79705	broad.mit.edu	37	chr15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggatctggagatggtcCgctacctactcagcaagaga	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000388948.3	+	4	669	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGATGGTCCGCTACCTACT	0.587																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(229-231)Cgc>Tgc		leucine-rich repeat kinase 1							97	99	98					15																	101523781		1973	4157	6130	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101523781C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.310C>T	15.37:g.101523781C>T	ENSP00000373600:p.Arg104Cys					LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000388948.3_Missense_Mutation_p.R104C	p.R77C			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	629	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		104						Missense_Mutation	SNP	ENST00000388948.3	37	c.229C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239573	0.22711	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	3.65	0.41850	Ankyrin repeat-containing domain (4);	0.153474	0.40302	N	0.001139	T	0.63558	0.2521	M	0.82923	2.615	0.09310	N	0.999992	B;P	0.40931	0.019;0.733	B;B	0.28465	0.011;0.09	T	0.65055	-0.6261	10	0.87932	D	0	.	12.9465	0.58375	0.3792:0.6208:0.0:0.0	.	104;104	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	104;77;104	ENSP00000373600:R104C;ENSP00000284395:R77C;ENSP00000433268:R104C	ENSP00000284395:R77C	R	+	1	0	LRRK1	99341304	0.652000	0.27349	0.017000	0.16124	0.411000	0.31082	1.551000	0.36233	1.382000	0.46385	0.585000	0.79938	CGC		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		112	546	0	0	0	1	0	112	546					T	101523781	C	T	101523781	3	4	79	1	0	0	0	0	1	0	0	0	9070	652	23	1	320	1	LRRK1	15	101523781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75152	101523781	1007611	15766	26083											
LRRK1	79705	broad.mit.edu	37	chr15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttcccctgggacttTtccagcttgatgtaagccta	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000388948.3	+	10	1767	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGACTTTTCCAGCTTGA	0.433																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1399-1401)Ttc>Ctc		leucine-rich repeat kinase 1							127	126	126					15																	101552339		1833	4092	5925	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101552339T>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1408T>C	15.37:g.101552339T>C	ENSP00000373600:p.Phe470Leu					LRRK1_ENST00000388948.3_Missense_Mutation_p.F470L	p.F467L			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1799	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		470						Missense_Mutation	SNP	ENST00000388948.3	37	c.1399T>C	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946632	0.18356	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67698	-0.28;-0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39397	1.21	0.54753	D	0.99998	B	0.15141	0.012	B	0.14578	0.011	T	0.51849	-0.8653	10	0.11182	T	0.66	.	14.5142	0.67809	0.0:0.0:0.0:1.0	.	470	Q38SD2	LRRK1_HUMAN	L	470;467	ENSP00000373600:F470L;ENSP00000284395:F467L	ENSP00000284395:F467L	F	+	1	0	LRRK1	99369862	1.000000	0.71417	0.472000	0.27241	0.373000	0.29922	7.158000	0.77470	2.008000	0.58898	0.528000	0.53228	TTC		0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		113	548	0	0	0	1	0	113	548					C	101552339	T	C	101552339	3	2	79	1	0	0	0	0	1	0	0	0	9070	1841	64	4	1442	4	LRRK1	15	101552339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28558	101552339	979053	15767	26084											
LRRK1	79705	broad.mit.edu	37	chr15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatctacatctacaccCtcaagggcatgtgcccctta	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000388948.3	+	31	5181	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCTACACCCTCAAGGGCAT	0.532																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4813-4815)Ctc>Atc		leucine-rich repeat kinase 1							133	138	136					15																	101602803		1996	4164	6160	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101602803C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4822C>A	15.37:g.101602803C>A	ENSP00000373600:p.Leu1608Ile					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.L1608I	p.L1605I			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		32	5213	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1608						Missense_Mutation	SNP	ENST00000388948.3	37	c.4813C>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931718	0.73442	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72505	-0.66;-0.66	5.29	4.26	0.50523	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.64997	1.995	0.38501	D	0.948239	D	0.76494	0.999	D	0.63793	0.918	T	0.79245	-0.1883	10	0.51188	T	0.08	.	9.1937	0.37215	0.0:0.8023:0.0:0.1977	.	1608	Q38SD2	LRRK1_HUMAN	I	1608;1605;299;162	ENSP00000373600:L1608I;ENSP00000284395:L1605I	ENSP00000284395:L1605I	L	+	1	0	LRRK1	99420326	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.479000	0.45197	2.484000	0.83849	0.491000	0.48974	CTC		0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		66	327	1	0	1.42676e-28	1	1.66098e-28	66	327					A	101602803	C	A	101602803	3	1	79	1	0	0	0	0	1	0	0	0	9070	681	24	3	4940	3	LRRK1	15	101602803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50464	101602803	928589	15768	26085											
LRRK1	79705	broad.mit.edu	37	chr15	101605829	101605829	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcaggcggctggagccCtacatggccccctccatggt	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000388948.3	+	32	5546	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1726P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTGGAGCCCTACATGGCCC	0.622																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5176-5178)ccC>ccA		leucine-rich repeat kinase 1							67	79	75					15																	101605829		2081	4212	6293	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101605829C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5187C>A	15.37:g.101605829C>A						LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1729P	p.P1726P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5578	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1729						Silent	SNP	ENST00000388948.3	37	c.5178C>A	CCDS42086.1																																																																																				0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		16	386	1	0	0.000422831	1	0.000428653	16	386					A	101605829	C	A	101605829	2	1	79	1	0	0	0	0	0	0	0	1	9070	668	24	3		3	LRRK1	15	101605829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	101605829	925563	15769	26086											
SELS	55829	broad.mit.edu	37	chr15	101813029	101813029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtctccaggagcaagCtccgcctccttcaccagaca	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101813029C>A	ENST00000398226.3	-	6	549	c.517G>T	c.(517-519)Gct>Tct	p.A173S	VIMP_ENST00000537379.1_Missense_Mutation_p.A173S|VIMP_ENST00000531964.1_Missense_Mutation_p.A150S|VIMP_ENST00000526049.1_Missense_Mutation_p.A173S			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	173					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)										CAGGAGCAAGCTCCGCCTCCT	0.468																																						ENST00000398226.3																			0											c.(517-519)Gct>Tct		VCP-interacting membrane protein							33	35	34					15																	101813029		1944	4135	6079	SO:0001583	missense	55829							g.chr15:101813029C>A	AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"selenoprotein S"	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.517G>T	15.37:g.101813029C>A	ENSP00000381282:p.Ala173Ser					VIMP_ENST00000537379.1_Missense_Mutation_p.A173S|VIMP_ENST00000531964.1_Missense_Mutation_p.A150S|VIMP_ENST00000526049.1_Missense_Mutation_p.A173S	p.A173S							6	549	-								Q3B771|Q9P0I6	Missense_Mutation	SNP	ENST00000398226.3	37	c.517G>T	CCDS53979.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603680	0.03717	.	.	ENSG00000131871	ENST00000398226;ENST00000537379;ENST00000531964;ENST00000526049;ENST00000528346	.	.	.	5.71	-5.46	0.02608	.	0.477530	0.24912	N	0.034609	T	0.09069	0.0224	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.27706	-1.0066	9	0.02654	T	1	-1.1801	5.2364	0.15448	0.2061:0.3139:0.0:0.48	.	173;173	Q6GYA4;Q9BQE4	.;SELS_HUMAN	S	173;173;150;173;213	.	ENSP00000381282:A173S	A	-	1	0	AC023024.1	99630552	0.001000	0.12720	0.001000	0.08648	0.603000	0.37013	-1.496000	0.02291	-1.379000	0.02118	-0.946000	0.02672	GCT		0.468	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2	NM_018445		10	57	1	0	1.08611e-07	1	1.12939e-07	10	57					A	101813029	C	A	101813029	3	1	79	1	0	0	0	0	1	0	0	0	14071	797	28	3	56	3	SELS	15	101813029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207200	101813029	718363	15770	26087											
SNRPA1	6627	broad.mit.edu	37	chr15	101821938	101821938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcactgctcaggacccGtttgtgactgtgtcttcttc	9	13	4	1	rs151201574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	253					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGACCCGTTTGTGACTG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20652	0.0		0.0	False		,,,				2504	0.0					ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(757-759)aaC>aaT		small nuclear ribonucleoprotein polypeptide A'		G		1,4405	2.1+/-5.4	0,1,2202	100	96	98		759	-8.6	0.3	15	dbSNP_134	98	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	SNRPA1	NM_003090.2		0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076		253/256	101821938	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101821938G>A	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.759C>T	15.37:g.101821938G>A							p.N253N	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	831	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		253					B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	37	c.759C>T	CCDS10391.1																																																																																				0.413	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		51	232	0	0	0	1	0	51	232					A	101821938	G	A	101821938	2	1	79	1	0	0	0	0	0	0	0	1	14910	1136	40	1		1	SNRPA1	15	101821938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8909	101821938	709454	15771	26088											
PCSK6	5046	broad.mit.edu	37	chr15	101905197	101905197	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaatcgagagtgtggaAacgaacctctcttctgtggt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101905197A>G	ENST00000331826.7	-	12	1412	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000398181.2_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	0	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			agagtgtggaaacgaacctct	0.393																																						ENST00000331826.7																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1411-1413)gtT>gtC		proprotein convertase subtilisin/kexin type 6							108	109	108					15																	101905197		1891	4119	6010	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101905197A>G		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000331826.7:c.1413T>C	15.37:g.101905197A>G						PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000398181.2_Intron	p.V471V			P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		12	1412	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		0					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000331826.7	37	c.1413T>C																																																																																					0.393	PCSK6-201	KNOWN	basic	protein_coding	protein_coding		NM_002570		5	112	0	0	0	1	0	5	112					G	101905197	A	G	101905197	2	3	79	1	0	0	0	0	0	0	0	1	11646	1	1	4		4	PCSK6	15	101905197	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83259	101905197	626195	15772	26089											
PCSK6	5046	broad.mit.edu	37	chr15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcacgagcagtagtcccCctctctcccgccattcccag	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000348070.1	-	9	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	352	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTAGTCCCCCTCTCTCCCG	0.612																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1051-1053)Ggg>Agg		proprotein convertase subtilisin/kexin type 6							62	71	68					15																	101933572		2203	4300	6503	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933572C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1051G>A	15.37:g.101933572C>T	ENSP00000305056:p.Gly351Arg					PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1050	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		352			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1051G>A		.	.	.	.	.	.	.	.	.	.	C	13.18	2.159489	0.38119	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048919	0.85682	D	0.000000	D	0.91593	0.7344	L	0.37466	1.105	0.48762	D	0.999704	D;B;B;B;B;B;P;B;B	0.89917	1.0;0.42;0.055;0.044;0.055;0.055;0.782;0.285;0.333	D;B;B;B;B;B;B;B;B	0.97110	1.0;0.223;0.05;0.03;0.05;0.05;0.3;0.091;0.147	D	0.88946	0.3383	10	0.25106	T	0.35	-36.4737	18.9896	0.92786	0.0:1.0:0.0:0.0	.	352;257;351;352;351;351;352;352;351	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	351;351;256;351;351;186	ENSP00000305056:G351R;ENSP00000351193:G351R;ENSP00000344410:G351R;ENSP00000381243:G351R;ENSP00000332052:G186R	ENSP00000332052:G186R	G	-	1	0	PCSK6	99751095	0.227000	0.23707	0.997000	0.53966	0.572000	0.35998	2.255000	0.43222	2.793000	0.96121	0.655000	0.94253	GGG		0.612	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		55	226	0	0	0	1	0	55	226					T	101933572	C	T	101933572	3	4	79	1	0	0	0	0	1	0	0	0	11646	623	22	2	2394	2	PCSK6	15	101933572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28375	101933572	597820	15773	26090											
TARSL2	123283	broad.mit.edu	37	chr15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattttccacggttctccaAagtccatcaagctgttctgc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	605					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1813-1815)tTt>tCt		threonyl-tRNA synthetase-like 2							68	66	67					15																	102211926		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102211926A>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1814T>C	15.37:g.102211926A>G	ENSP00000338093:p.Phe605Ser						p.F605S	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	2030	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		605					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1814T>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976726	0.53720	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.049922	0.85682	D	0.000000	T	0.43831	0.1265	N	0.26042	0.785	0.58432	D	0.99999	B;B	0.32338	0.365;0.167	B;B	0.31245	0.099;0.126	T	0.38286	-0.9668	9	0.31617	T	0.26	-9.3299	12.9168	0.58211	1.0:0.0:0.0:0.0	.	605;510	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	605;510;605	.	ENSP00000329291:F510S	F	-	2	0	TARSL2	100029449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.820000	0.92003	1.943000	0.56356	0.477000	0.44152	TTT		0.348	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		37	175	0	0	0	1	0	37	175					G	102211926	A	G	102211926	3	3	79	1	0	0	0	0	1	0	0	0	15613	14	1	4	618	4	TARSL2	15	102211926	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	278354	102211926	319466	15774	26091											
TARSL2	123283	broad.mit.edu	37	chr15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatagtaaagctccatgGcctccccaagaatgtgagca	8	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	243					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(727-729)gCc>gTc		threonyl-tRNA synthetase-like 2							81	68	73					15																	102252167		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102252167G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.728C>T	15.37:g.102252167G>A	ENSP00000338093:p.Ala243Val						p.A243V	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	944	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		243					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.728C>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.24538	1.85;1.85	5.38	5.38	0.77491	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.050606	0.85682	D	0.000000	T	0.54886	0.1886	M	0.93854	3.465	0.80722	D	1	P	0.51240	0.943	P	0.53224	0.721	T	0.68085	-0.5502	10	0.72032	D	0.01	-13.9248	16.6349	0.85050	0.0:0.0:1.0:0.0	.	243	A2RTX5	SYTC2_HUMAN	V	243	ENSP00000338093:A243V;ENSP00000439899:A243V	ENSP00000338093:A243V	A	-	2	0	TARSL2	100069690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.552000	0.98115	2.528000	0.85240	0.530000	0.56133	GCC		0.448	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		30	128	0	0	0	1	0	30	128					A	102252167	G	A	102252167	3	1	79	1	0	0	0	0	1	0	0	0	15613	1203	42	2	1740	2	TARSL2	15	102252167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40241	102252167	279225	15775	26092											
RHBDF1	64285	broad.mit.edu	37	chr16	108725	108725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctccacgaagaggcaggCcaggatgccgaactgggagc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	728					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2182-2184)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							20	24	23					16																	108725		2202	4299	6501	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108725C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2182G>A	16.37:g.108725C>T	ENSP00000262316:p.Ala728Thr						p.A728T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2324	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	728					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2182G>A	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	30|30	5.049882|5.049882	0.93740|0.93740	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000262316|ENST00000448893	T|.	0.12984|.	2.63|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84960|.	0.5588|.	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.87865|.	0.2667|.	10|.	0.87932|.	D|.	0|.	-34.8431|-34.8431	17.997|17.997	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	728|.	Q96CC6|.	RHDF1_HUMAN|.	T|X	728|104	ENSP00000262316:A728T|.	ENSP00000262316:A728T|.	A|W	-|-	1|3	0|0	RHBDF1|RHBDF1	48725|48725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.945000|5.945000	0.70226|0.70226	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.647	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		16	151	0	0	0	1	0	16	151					T	108725	C	T	108725	3	4	79	1	0	0	0	0	1	0	0	0	13369	739	26	2	389	2	RHBDF1	16	108725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		108725	90246028	15776	26093											
RHBDF1	64285	broad.mit.edu	37	chr16	112988	112988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttcatcagcgctgcggCcgcccggaagctcatcttgg	11	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	219					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(655-657)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							21	28	26					16																	112988		2198	4294	6492	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:112988C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.655G>A	16.37:g.112988C>T	ENSP00000262316:p.Ala219Thr					RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			5	797	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	219					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.655G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139759	0.56936	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70164	-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.46157	1.445	0.80722	D	1	P;P;P	0.48162	0.778;0.906;0.529	B;P;B	0.49561	0.374;0.615;0.361	T	0.65471	-0.6160	10	0.27082	T	0.32	-12.3562	17.0258	0.86446	0.0:1.0:0.0:0.0	.	219;242;219	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	T	219	ENSP00000262316:A219T;ENSP00000392133:A219T	ENSP00000262316:A219T	A	-	1	0	RHBDF1	52988	1.000000	0.71417	0.111000	0.21465	0.256000	0.26092	7.748000	0.85085	2.243000	0.73865	0.462000	0.41574	GCC		0.701	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		42	157	0	0	0	1	0	42	157					T	112988	C	T	112988	3	4	79	1	0	0	0	0	1	0	0	0	13369	739	26	2	1968	2	RHBDF1	16	112988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4263	112988	90241765	15777	26094											
RHBDF1	64285	broad.mit.edu	37	chr16	113124	113124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggggcactcaggccTtccgcagtgtcatctgccac	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	173					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(517-519)gaA>gaG		rhomboid 5 homolog 1 (Drosophila)							39	39	39					16																	113124		2183	4274	6457	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113124T>C	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.519A>G	16.37:g.113124T>C						RHBDF1_ENST00000454039.2_Silent_p.E173E	p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			5	661	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	173					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.519A>G	CCDS32344.1																																																																																				0.682	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		13	70	0	0	0	1	0	13	70					C	113124	T	C	113124	2	2	79	1	0	0	0	0	0	0	0	1	13369	1606	56	4		4	RHBDF1	16	113124	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136	113124	90241629	15778	26095											
NPRL3	4350	broad.mit.edu	37	chr16	136767	136767	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtggtcaccaccagcacGctgcggaacttgtcaaacag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:136767G>A	ENST00000219431.4	+	0	1193				NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399953.3_Silent_p.S548S|NPRL3_ENST00000399951.3_Silent_p.S369S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACCAGCACGCTGCGGAACT	0.637								Base excision repair (BER), DNA glycosylases																														ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(1642-1644)agC>agT		nitrogen permease regulator-like 3 (S. cerevisiae)							42	50	47					16																	136767		2128	4233	6361	SO:0001628	intergenic_variant	8131						protein binding	g.chr16:136767G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.136767G>A						NPRL3_ENST00000399951.3_Silent_p.S369S|NPRL3_ENST00000405960.3_5'UTR	p.S548S	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			14	2046	-			549					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.1644C>T	CCDS32346.1																																																																																				0.637	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			14	49	0	0	0	1	0	14	49					A	136767	G	A	136767	1	1	79	0	1	0	0	0	0	0	0	0	10640	1078	38	1		1	NPRL3	16	136767	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23643	136767	90217986	15779	26096											
NPRL3	8131	broad.mit.edu	37	chr16	150396	150396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcaggctccgttcgatGgcctctggggggatcagact	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000399953.3	-	7	1143	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	247					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(739-741)gcC>gcT		nitrogen permease regulator-like 3 (S. cerevisiae)							37	43	41					16																	150396		2013	4155	6168	SO:0001819	synonymous_variant	8131						protein binding	g.chr16:150396G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.741C>T	16.37:g.150396G>A						NPRL3_ENST00000399951.3_Silent_p.A68A|NPRL3_ENST00000405960.3_5'UTR	p.A247A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			7	1143	-			247					D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	ENST00000399953.3	37	c.741C>T																																																																																					0.602	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		20	64	0	0	0	1	0	20	64					A	150396	G	A	150396	2	1	79	1	0	0	0	0	0	0	0	1	10640	1335	47	2		2	NPRL3	16	150396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13629	150396	90204357	15780	26097											
NPRL3	8131	broad.mit.edu	37	chr16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggtgcccaacaaatcGcacattatcaatcttcagtt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(274-276)Cga>Tga		nitrogen permease regulator-like 3 (S. cerevisiae)							87	89	88					16																	169169		1955	4146	6101	SO:0001587	stop_gained	8131						protein binding	g.chr16:169169G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.274C>T	16.37:g.169169G>A	ENSP00000382834:p.Arg92*					NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR	p.R92*	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			3	676	-			92					D3DU40|Q1W6H0|Q4TT56|Q92469	Nonsense_Mutation	SNP	ENST00000399953.3	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	NPRL3	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA		0.478	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		21	67	0	0	0	1	0	21	67					A	169169	G	A	169169	4	1	79	1	0	0	0	0	0	1	0	0	10640	1095	38	1	1478	1	NPRL3	16	169169	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18773	169169	90185584	15781	26098											
HBQ1	3049	broad.mit.edu	37	chr16	231010	231010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgctggtaaccctcgCccggcactaccccggagact	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	111					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706																																						ENST00000199708.2																			0				large_intestine(1)	1						c.(331-333)gCc>gTc		hemoglobin, theta 1							23	27	26					16																	231010		2203	4299	6502	SO:0001583	missense	3049					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:231010C>T	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.332C>T	16.37:g.231010C>T	ENSP00000199708:p.Ala111Val						p.A111V	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN			3	366	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	111					Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	37	c.332C>T	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.497944	0.64186	.	.	ENSG00000086506	ENST00000199708	D	0.94966	-3.57	3.83	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.89095	3.005	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	D	0.96715	0.9528	10	0.87932	D	0	-22.2468	10.336	0.43850	0.0:0.9026:0.0:0.0974	.	111	P09105	HBAT_HUMAN	V	111	ENSP00000199708:A111V	ENSP00000199708:A111V	A	+	2	0	HBQ1	171010	0.968000	0.33430	0.881000	0.34555	0.993000	0.82548	2.412000	0.44609	0.819000	0.34492	0.486000	0.48141	GCC		0.706	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		38	182	0	0	0	1	0	38	182					T	231010	C	T	231010	3	4	79	1	0	0	0	0	1	0	0	0	7016	739	26	2	342	2	HBQ1	16	231010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	231010	90123743	15782	26099											
ITFG3	83986	broad.mit.edu	37	chr16	304439	304439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaaggacttagaggcCgaaatccaccccttgaaaaa	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(25-27)gcC>gcT		integrin alpha FG-GAP repeat containing 3							157	161	160					16																	304439		1906	4121	6027	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:304439C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.27C>T	16.37:g.304439C>T			OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	p.A9A			Q9H0X4	ITFG3_HUMAN			3	478	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	9					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.27C>T	CCDS10402.1																																																																																				0.493	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		125	1222	0	0	0	1	0	125	1222					T	304439	C	T	304439	2	4	79	1	0	0	0	0	0	0	0	1	7901	639	23	1		1	ITFG3	16	304439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73429	304439	90050314	15783	26100											
ITFG3	83986	broad.mit.edu	37	chr16	309975	309975	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctacaggcttttcCtctccctgcacctttgcagc	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	131						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGCTTTTCCTCTCCCTGCA	0.637																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(391-393)tcC>tcA		integrin alpha FG-GAP repeat containing 3							54	54	54					16																	309975		2019	4159	6178	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:309975C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.393C>A	16.37:g.309975C>A						ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S	p.S131S			Q9H0X4	ITFG3_HUMAN			5	844	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	131					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.393C>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093049	0.01858	.	.	ENSG00000167930	ENST00000421000	.	.	.	4.38	1.3	0.21679	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24654	N	0.993503	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-4.4893	3.7011	0.08383	0.0:0.4522:0.1843:0.3635	.	.	.	.	H	60	.	.	P	+	2	0	ITFG3	249976	0.001000	0.12720	0.091000	0.20842	0.034000	0.12701	-0.327000	0.07955	0.579000	0.29504	0.655000	0.94253	CCT		0.637	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		49	178	1	0	1.38658e-30	1	1.62744e-30	49	178					A	309975	C	A	309975	2	1	79	1	0	0	0	0	0	0	0	1	7901	668	24	3		3	ITFG3	16	309975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5536	309975	90044778	15784	26101											
ARHGDIG	398	broad.mit.edu	37	chr16	331765	331765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctggctgacaaggaGggtgggccgccggcagtgga	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	ENST00000219409.3	+	2	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	31					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGACAAGGAGGGTGGGCCGC	0.701																																						ENST00000219409.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(91-93)gaG>gaA		Rho GDP dissociation inhibitor (GDI) gamma							8	9	9					16																	331765		2130	4224	6354	SO:0001819	synonymous_variant	398				negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:331765G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.93G>A	16.37:g.331765G>A							p.E31E	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN			2	168	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	31					Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	37	c.93G>A	CCDS10404.1																																																																																				0.701	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			18	79	0	0	0	1	0	18	79					A	331765	G	A	331765	2	1	79	1	0	0	0	0	0	0	0	1	892	991	35	2		2	ARHGDIG	16	331765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21790	331765	90022988	15785	26102											
PDIA2	64714	broad.mit.edu	37	chr16	335387	335387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagacgctggctgcgcacCgggagctcctagcgggcttt	14	14	0	1	rs201912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	291					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667													c|||	2	0.000399361	0.0008	0.0	5008	,	,		11520	0.0		0.001	False		,,,				2504	0.0					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(871-873)Cgg>Tgg		protein disulfide isomerase family A, member 2			TRP/ARG	2,3958		0,2,1978	30	33	32		871	-5.2	0.6	16	dbSNP_134	32	2,8310		0,2,4154	yes	missense	PDIA2	NM_006849.2	101	0,4,6132	TT,TC,CC		0.0241,0.0505,0.0326	probably-damaging	291/526	335387	4,12268	1980	4156	6136	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335387C>T	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.871C>T	16.37:g.335387C>T	ENSP00000219406:p.Arg291Trp					PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W	p.R291W	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			6	889	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	291					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.871C>T	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398440	0.25205	5.05E-4	2.41E-4	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14893	2.47;2.47	3.87	-5.16	0.02857	Thioredoxin-like fold (1);	0.825023	0.10819	N	0.630708	T	0.25865	0.0630	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.58970	0.849	T	0.30031	-0.9992	10	0.87932	D	0	.	12.8524	0.57864	0.1846:0.7175:0.0:0.0979	.	291	Q13087	PDIA2_HUMAN	W	291;260;288	ENSP00000219406:R291W;ENSP00000384410:R288W	ENSP00000219406:R291W	R	+	1	2	PDIA2	275388	0.012000	0.17670	0.622000	0.29159	0.059000	0.15707	0.974000	0.29436	-0.593000	0.05844	-0.509000	0.04479	CGG		0.667	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		54	169	0	0	0	1	0	54	169					T	335387	C	T	335387	3	4	79	1	0	0	0	0	1	0	0	0	11710	643	23	1	893	1	PDIA2	16	335387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3622	335387	90019366	15786	26103											
AXIN1	8312	broad.mit.edu	37	chr16	347979	347979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcccgtgccccgaggcGgcaccccccagtgccactgg	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	509	Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1525-1527)gcC>gcT		axin 1							44	35	38					16																	347979		2198	4297	6495	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347979G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1527C>T	16.37:g.347979G>A						AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	p.A509A	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			6	1898	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	509			Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1527C>T	CCDS10405.1																																																																																				0.706	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			24	97	0	0	0	1	0	24	97					A	347979	G	A	347979	2	1	79	1	0	0	0	0	0	0	0	1	1237	1103	39	1		1	AXIN1	16	347979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12592	347979	90006774	15787	26104											
AXIN1	8312	broad.mit.edu	37	chr16	360044	360044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggtgctgcttacGgatcctgtatggggggatcc	14	12	0	0	rs369325988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.R349C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617																																						ENST00000262320.3																			1	Substitution - Missense(1)	p.R349C(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1045-1047)Cgt>Tgt		axin 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79	51	60		1045,1045	4.8	0.9	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	349/863,349/827	360044	1,13005	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:360044G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1045C>T	16.37:g.360044G>A	ENSP00000262320:p.Arg349Cys					AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	p.R349C	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			4	1416	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	349			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1045C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010028	0.54361	0.0	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82893	-1.66;-1.66	4.84	4.84	0.62591	.	0.057737	0.64402	D	0.000001	D	0.89111	0.6622	M	0.78801	2.425	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.55087	0.768;0.667	D	0.91021	0.4857	10	0.87932	D	0	14.04	17.9962	0.89185	0.0:0.0:1.0:0.0	.	349;349	O15169-2;O15169	.;AXIN1_HUMAN	C	349	ENSP00000262320:R349C;ENSP00000346935:R349C	ENSP00000262320:R349C	R	-	1	0	AXIN1	300045	1.000000	0.71417	0.939000	0.37840	0.174000	0.22865	7.486000	0.81215	2.257000	0.74773	0.456000	0.33151	CGT		0.617	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			16	82	0	0	0	1	0	16	82					A	360044	G	A	360044	3	1	79	1	0	0	0	0	1	0	0	0	1237	1116	39	1	1575	1	AXIN1	16	360044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12065	360044	89994709	15788	26105											
MRPL28	10573	broad.mit.edu	37	chr16	419132	419132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtccgcatggtcacaGtcactgtgaacttcttgtcc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	126					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547																																						ENST00000199706.8																			0				breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5						c.(376-378)aCt>aTt		mitochondrial ribosomal protein L28							203	152	170					16																	419132		2203	4300	6503	SO:0001583	missense	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:419132G>A	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.377C>T	16.37:g.419132G>A	ENSP00000199706:p.Thr126Ile					MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I|MRPL28_ENST00000429738.1_Intron	p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN			3	412	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	126					B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	ENST00000199706.8	37	c.377C>T	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838861	0.16891	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33438	1.82;1.82;1.83;1.42;1.41	4.35	2.24	0.28232	.	0.156920	0.56097	D	0.000032	T	0.31575	0.0801	M	0.69823	2.125	0.49798	D	0.999828	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.35510	0.204;0.204;0.204	T	0.31916	-0.9926	10	0.66056	D	0.02	-21.5801	10.7298	0.46089	0.1878:0.0:0.8122:0.0	.	126;126;126	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	I	126	ENSP00000199706:T126I;ENSP00000374326:T126I;ENSP00000398684:T126I;ENSP00000390399:T126I;ENSP00000395305:T126I	ENSP00000199706:T126I	T	-	2	0	MRPL28	359133	1.000000	0.71417	0.068000	0.19968	0.002000	0.02628	4.373000	0.59537	1.061000	0.40601	-0.136000	0.14681	ACT		0.547	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			78	330	0	0	0	1	0	78	330					A	419132	G	A	419132	3	1	79	1	0	0	0	0	1	0	0	0	9833	1029	36	2	409	2	MRPL28	16	419132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59088	419132	89935621	15789	26106											
TMEM8A	58986	broad.mit.edu	37	chr16	426714	426714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgctaggcagggtgaccGggcccacggtgagacgcacg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	245					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(733-735)cCg>cTg		transmembrane protein 8A							22	25	24					16																	426714		2197	4294	6491	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426714G>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.734C>T	16.37:g.426714G>A	ENSP00000401338:p.Pro245Leu					TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	p.P245L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			5	894	-			245					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.734C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985263	0.18889	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.31769	1.92;1.48	4.1	-1.8	0.07907	.	1.025100	0.07779	N	0.953031	T	0.21468	0.0517	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.28522	-1.0041	10	0.40728	T	0.16	-16.4183	6.0529	0.19794	0.3762:0.1241:0.4997:0.0	.	245	Q9HCN3	TMM8A_HUMAN	L	245;52	ENSP00000401338:P245L;ENSP00000250930:P52L	ENSP00000250930:P52L	P	-	2	0	TMEM8A	366715	0.767000	0.28508	0.016000	0.15963	0.693000	0.40251	0.980000	0.29513	-0.539000	0.06273	0.305000	0.20034	CCG		0.692	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		23	161	0	0	0	1	0	23	161					A	426714	G	A	426714	3	1	79	1	0	0	0	0	1	0	0	0	16266	1116	39	1	1617	1	TMEM8A	16	426714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7582	426714	89928039	15790	26107											
NME4	4833	broad.mit.edu	37	chr16	449418	449418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcactaccaggacctgCggaggaagcccttctaccct	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000219479.2	+	3	279	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NME4_ENST00000382940.4_Missense_Mutation_p.R97W|DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000450036.1_Missense_Mutation_p.R19W|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000397722.1_Missense_Mutation_p.R19W	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	89					CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632																																						ENST00000397722.1																			0				NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4						c.(55-57)Cgg>Tgg		NME/NM23 nucleoside diphosphate kinase 4							164	161	162					16																	449418		2202	4300	6502	SO:0001583	missense	4833				CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:449418C>T	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"non-metastatic cells 4, protein expressed in"			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.265C>T	16.37:g.449418C>T	ENSP00000219479:p.Arg89Trp					NME4_ENST00000450036.1_Missense_Mutation_p.R19W|NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000219479.2_Missense_Mutation_p.R89W	p.R19W			O00746	NDKM_HUMAN			3	529	+		Hepatocellular(16;0.00015)	89					A2IDD0|Q5U0M9	Missense_Mutation	SNP	ENST00000219479.2	37	c.55C>T	CCDS10408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.831977|1.831977	0.32421|0.32421	.|.	.|.	ENSG00000103202|ENSG00000103202	ENST00000433358|ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000450036	.|T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42	4.74|4.74	-0.194|-0.194	0.13240|0.13240	.|.	.|0.575824	.|0.19021	.|N	.|0.124809	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.51550	.|0.673	T|T	0.66980|0.66980	-0.5786|-0.5786	5|10	.|0.87932	.|D	.|0	-5.5321|-5.5321	13.8811|13.8811	0.63682|0.63682	0.5062:0.4938:0.0:0.0|0.5062:0.4938:0.0:0.0	.|.	.|89	.|O00746	.|NDKM_HUMAN	V|W	84|19;19;89;97;19	.|ENSP00000380834:R19W;ENSP00000406317:R19W;ENSP00000219479:R89W;ENSP00000372398:R97W;ENSP00000389048:R19W	.|ENSP00000219479:R89W	A|R	+|+	2|1	0|2	NME4|NME4	389419|389419	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.345000|0.345000	0.29048|0.29048	1.056000|1.056000	0.30480|0.30480	0.161000|0.161000	0.19458|0.19458	-0.521000|-0.521000	0.04368|0.04368	GCG|CGG		0.632	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	NM_005009		240	841	0	0	0	1	0	240	841					T	449418	C	T	449418	3	4	79	1	0	0	0	0	1	0	0	0	10535	759	27	1	275	1	NME4	16	449418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22704	449418	89905335	15791	26108											
DECR2	26063	broad.mit.edu	37	chr16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcactgccagcccgctgCagaggctggggaacaagacc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	237					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(709-711)Cag>Tag		2,4-dienoyl CoA reductase 2, peroxisomal							49	51	50					16																	461408		2202	4299	6501	SO:0001587	stop_gained	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461408C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.709C>T	16.37:g.461408C>T	ENSP00000219481:p.Gln237*					DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	p.Q237*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			8	847	+		Hepatocellular(16;0.00015)	237					Q6ZRS7|Q96ET0	Nonsense_Mutation	SNP	ENST00000219481.5	37	c.709C>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244166	0.59103	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	.	.	.	5.33	4.35	0.52113	.	0.272166	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0866	0.64962	0.1518:0.8482:0.0:0.0	.	.	.	.	X	237;225	.	ENSP00000219481:Q237X	Q	+	1	0	DECR2	401409	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	3.819000	0.55686	1.195000	0.43115	0.555000	0.69702	CAG		0.692	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		66	298	0	0	0	1	0	66	298					T	461408	C	T	461408	4	4	79	1	0	0	0	0	0	1	0	0	4394	711	25	2	739	2	DECR2	16	461408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11990	461408	89893345	15792	26109											
RAB11FIP3	9727	broad.mit.edu	37	chr16	532617	532617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaccagcaccctggtGcaccctgagctgcaacctga	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000450428.1_Silent_p.V36V|RAB11FIP3_ENST00000457159.1_Silent_p.V332V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	332					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(994-996)gtG>gtA		RAB11 family interacting protein 3 (class II)							80	64	69					16																	532617		2202	4300	6502	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:532617G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.996G>A	16.37:g.532617G>A						RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	p.V332V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			4	1384	+		Hepatocellular(16;0.0218)	332					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.996G>A	CCDS32351.1																																																																																				0.657	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		65	242	0	0	0	1	0	65	242					A	532617	G	A	532617	2	1	79	1	0	0	0	0	0	0	0	1	12945	1306	46	2		2	RAB11FIP3	16	532617	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71209	532617	89822136	15793	26110											
SOLH	6650	broad.mit.edu	37	chr16	598072	598072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgcgtcctgcccgagCgcccgggccagtgggcctgc	15	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:598072C>T	ENST00000219611.2	+	4	1597	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	412					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTGCCCGAGCGCCCGGGCCA	0.746																																						ENST00000219611.2																			0											c.(1234-1236)Cgc>Tgc		calpain 15							3	4	4					16																	598072		1817	3697	5514	SO:0001583	missense	6650							g.chr16:598072C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1234C>T	16.37:g.598072C>T	ENSP00000219611:p.Arg412Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R412C	NM_005632.2	NP_005623.1					4	1597	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.1234C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	9.974	1.226251	0.22542	.	.	ENSG00000103326	ENST00000219611	T	0.64085	-0.08	4.61	3.65	0.41850	Zinc finger, RanBP2-type (2);	1.143940	0.06453	N	0.728041	T	0.59418	0.2192	L	0.51422	1.61	0.38221	D	0.940767	B	0.18310	0.027	B	0.09377	0.004	T	0.47699	-0.9097	10	0.49607	T	0.09	.	11.5354	0.50634	0.0:0.9106:0.0:0.0894	.	412	O75808	CAN15_HUMAN	C	412	ENSP00000219611:R412C	ENSP00000219611:R412C	R	+	1	0	SOLH	538073	0.038000	0.19896	0.618000	0.29105	0.215000	0.24574	1.291000	0.33330	0.934000	0.37316	0.486000	0.48141	CGC		0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	30	0	0	0	1	0	8	30					T	598072	C	T	598072	3	4	79	1	0	0	0	0	1	0	0	0	14975	768	27	1	1236	1	SOLH	16	598072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65455	598072	89756681	15794	26111											
SOLH	6650	broad.mit.edu	37	chr16	599006	599006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaacaatgtgagctTcgtggatgacagcttccctc	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599006T>G	ENST00000219611.2	+	5	1826	c.1463T>G	c.(1462-1464)tTc>tGc	p.F488C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	488	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AATGTGAGCTTCGTGGATGAC	0.672																																						ENST00000219611.2																			0											c.(1462-1464)tTc>tGc		calpain 15							117	97	104					16																	599006		2199	4297	6496	SO:0001583	missense	6650							g.chr16:599006T>G	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1463T>G	16.37:g.599006T>G	ENSP00000219611:p.Phe488Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.F488C	NM_005632.2	NP_005623.1					5	1826	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.1463T>G	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	t	17.40	3.381250	0.61845	.	.	ENSG00000103326	ENST00000219611	T	0.66995	-0.24	5.04	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.87712	0.6246	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91711	0.5381	10	0.87932	D	0	.	13.6292	0.62186	0.0:0.0:0.0:1.0	.	488	O75808	CAN15_HUMAN	C	488	ENSP00000219611:F488C	ENSP00000219611:F488C	F	+	2	0	SOLH	539007	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	7.777000	0.85628	1.903000	0.55091	0.454000	0.30748	TTC		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		113	567	0	0	0	1	0	113	567					G	599006	T	G	599006	3	3	79	1	0	0	0	0	1	0	0	0	14975	1783	62	4	1469	4	SOLH	16	599006	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	934	599006	89755747	15795	26112											
SOLH	6650	broad.mit.edu	37	chr16	599309	599309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgagcgccctggcggtGctggcggagcggccggacct	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599309G>A	ENST00000219611.2	+	6	2043	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	560	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCTGGCGGTGCTGGCGGAGC	0.741																																						ENST00000219611.2																			0											c.(1678-1680)gtG>gtA		calpain 15							10	10	10					16																	599309		2122	4233	6355	SO:0001819	synonymous_variant	6650							g.chr16:599309G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1680G>A	16.37:g.599309G>A						LA16c-366D1.3_ENST00000565879.1_RNA	p.V560V	NM_005632.2	NP_005623.1					6	2043	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.1680G>A	CCDS10410.1																																																																																				0.741	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		21	65	0	0	0	1	0	21	65					A	599309	G	A	599309	2	1	79	1	0	0	0	0	0	0	0	1	14975	1306	46	2		2	SOLH	16	599309	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	599309	89755444	15796	26113											
SOLH	6650	broad.mit.edu	37	chr16	601376	601376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgagagcctgggcctgcGcccccggcatgcctactcca	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:601376G>A	ENST00000219611.2	+	8	2504	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	714	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGGCCTGCGCCCCCGGCAT	0.682																																						ENST00000219611.2																			0											c.(2140-2142)cGc>cAc		calpain 15							52	61	58					16																	601376		2200	4297	6497	SO:0001583	missense	6650							g.chr16:601376G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2141G>A	16.37:g.601376G>A	ENSP00000219611:p.Arg714His					LA16c-366D1.3_ENST00000565879.1_RNA	p.R714H	NM_005632.2	NP_005623.1					8	2504	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2141G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989237	0.93106	.	.	ENSG00000103326	ENST00000219611	D	0.87809	-2.3	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92401	0.5929	10	0.72032	D	0.01	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	714	O75808	CAN15_HUMAN	H	714	ENSP00000219611:R714H	ENSP00000219611:R714H	R	+	2	0	SOLH	541377	1.000000	0.71417	0.995000	0.50966	0.793000	0.44817	9.745000	0.98856	2.509000	0.84616	0.556000	0.70494	CGC		0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		90	381	0	0	0	1	0	90	381					A	601376	G	A	601376	3	1	79	1	0	0	0	0	1	0	0	0	14975	1087	38	1	2159	1	SOLH	16	601376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2067	601376	89753377	15797	26114											
SOLH	6650	broad.mit.edu	37	chr16	602440	602440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagaagttcgtcagctgcGacgtcatgctggagcctggc	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:602440G>A	ENST00000219611.2	+	11	3010	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	883					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGTCAGCTGCGACGTCATGCT	0.706																																						ENST00000219611.2																			0											c.(2647-2649)Gac>Aac		calpain 15							22	28	26					16																	602440		2171	4283	6454	SO:0001583	missense	6650							g.chr16:602440G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2647G>A	16.37:g.602440G>A	ENSP00000219611:p.Asp883Asn					LA16c-366D1.3_ENST00000565879.1_RNA	p.D883N	NM_005632.2	NP_005623.1					11	3010	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2647G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.843974	0.51164	.	.	ENSG00000103326	ENST00000219611	D	0.88741	-2.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	L	0.27053	0.805	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	D	0.85580	0.1239	10	0.10111	T	0.7	.	17.9079	0.88925	0.0:0.0:1.0:0.0	.	883	O75808	CAN15_HUMAN	N	883	ENSP00000219611:D883N	ENSP00000219611:D883N	D	+	1	0	SOLH	542441	1.000000	0.71417	0.879000	0.34478	0.878000	0.50629	7.618000	0.83043	2.580000	0.87095	0.556000	0.70494	GAC		0.706	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		38	151	0	0	0	1	0	38	151					A	602440	G	A	602440	3	1	79	1	0	0	0	0	1	0	0	0	14975	1058	37	1	2677	1	SOLH	16	602440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1064	602440	89752313	15798	26115											
PIGQ	9091	broad.mit.edu	37	chr16	624165	624165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggagcagagcagcgccGtggtcctggcggtcctgcac	16	14	0	1	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000026218.5	+	2	179	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000321878.5_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	31					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(91-93)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class Q		G	MET/VAL,MET/VAL	0,4400		0,0,2200	76	61	66		91,91	5.2	0.9	16	dbSNP_134	66	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	21,21	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/582,31/761	624165	1,12995	2200	4298	6498	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624165G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.91G>A	16.37:g.624165G>A	ENSP00000026218:p.Val31Met					PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000026218.5_Missense_Mutation_p.V31M	p.V31M	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	250	+		Hepatocellular(780;0.00335)	31					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.91G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620397	0.66787	0.0	1.16E-4	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58652	0.38;0.43;0.36;0.42;0.43;0.42;1.68;0.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.982;0.992;0.988	T	0.77101	-0.2712	10	0.87932	D	0	-31.9028	17.6476	0.88153	0.0:0.0:1.0:0.0	.	45;31;31;31	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	M	31	ENSP00000293874:V31M;ENSP00000386760:V31M;ENSP00000386554:V31M;ENSP00000413753:V31M;ENSP00000326674:V31M;ENSP00000387820:V31M;ENSP00000026218:V31M;ENSP00000439650:V31M	ENSP00000026218:V31M	V	+	1	0	PIGQ	564166	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	6.413000	0.73308	2.409000	0.81822	0.511000	0.50034	GTG		0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		58	155	0	0	0	1	0	58	155					A	624165	G	A	624165	3	1	79	1	0	0	0	0	1	0	0	0	11938	1145	40	1	93	1	PIGQ	16	624165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21725	624165	89730588	15799	26116											
PIGQ	9091	broad.mit.edu	37	chr16	628425	628425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagtggctgatgggtgCtcccgccgggctcaagatga	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000026218.5	+	5	1077	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000321878.5_Missense_Mutation_p.A330V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	330	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(988-990)gCt>gTt		phosphatidylinositol glycan anchor biosynthesis, class Q							41	36	37					16																	628425		2197	4298	6495	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:628425C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.989C>T	16.37:g.628425C>T	ENSP00000026218:p.Ala330Val					PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A330V|PIGQ_ENST00000544860.1_3'UTR	p.A330V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			5	1148	+		Hepatocellular(780;0.00335)	330			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.989C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715057	0.15306	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44881	0.91;0.91;2.2	5.47	3.32	0.38043	.	0.097986	0.64402	D	0.000001	T	0.16896	0.0406	N	0.02213	-0.635	0.80722	D	1	P;P;B	0.44776	0.62;0.843;0.033	B;B;B	0.40659	0.136;0.336;0.027	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.6134	10.2282	0.43238	0.0:0.7882:0.0:0.2118	.	344;330;330	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	330	ENSP00000386760:A330V;ENSP00000326674:A330V;ENSP00000026218:A330V	ENSP00000026218:A330V	A	+	2	0	PIGQ	568426	0.983000	0.35010	0.045000	0.18777	0.349000	0.29174	2.593000	0.46180	1.337000	0.45525	-0.229000	0.12294	GCT		0.677	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		44	234	0	0	0	1	0	44	234					T	628425	C	T	628425	3	4	79	1	0	0	0	0	1	0	0	0	11938	797	28	2	1003	2	PIGQ	16	628425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4260	628425	89726328	15800	26117											
PIGQ	9091	broad.mit.edu	37	chr16	633231	633231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgggggtggccagccaGgctggccgcactccatcact	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	627					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCAGCCAGGCTGGCCGCA	0.642																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1879-1881)aGg>aTg		phosphatidylinositol glycan anchor biosynthesis, class Q							104	112	109					16																	633231		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633231G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1880G>T	16.37:g.633231G>T	ENSP00000026218:p.Arg627Met					PIGQ_ENST00000321878.5_3'UTR	p.R627M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	1968	+		Hepatocellular(780;0.00335)	627					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1880G>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443129	0.25987	.	.	ENSG00000007541	ENST00000026218	T	0.23950	1.88	3.49	-1.56	0.08532	.	0.716622	0.12313	N	0.479982	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	D;B	0.55605	0.972;0.41	P;B	0.49047	0.599;0.146	T	0.15178	-1.0446	9	.	.	.	.	3.4154	0.07373	0.4076:0.2047:0.3877:0.0	.	197;627	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	M	627	ENSP00000026218:R627M	.	R	+	2	0	PIGQ	573232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.537000	0.02206	-0.037000	0.13646	-0.513000	0.04457	AGG		0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		42	1170	1	0	3.90053e-15	1	4.25374e-15	42	1170					T	633231	G	T	633231	3	4	79	1	0	0	0	0	1	0	0	0	11938	1000	35	3	1980	3	PIGQ	16	633231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4806	633231	89721522	15801	26118											
PIGQ	9091	broad.mit.edu	37	chr16	633554	633554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagtcgctgacccccGtccccagcgggcccgggccc	13	19	0	2	rs575374982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	735					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.0		0.001	False		,,,				2504	0.0					ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(2203-2205)Gtc>Atc		phosphatidylinositol glycan anchor biosynthesis, class Q							37	39	38					16																	633554		2200	4300	6500	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633554G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2203G>A	16.37:g.633554G>A	ENSP00000026218:p.Val735Ile					PIGQ_ENST00000321878.5_3'UTR	p.V735I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	2291	+		Hepatocellular(780;0.00335)	735					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.2203G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689420	0.29962	.	.	ENSG00000007541	ENST00000026218	T	0.20881	2.04	3.3	-6.6	0.01824	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	P;B	0.47677	0.899;0.13	B;B	0.34824	0.19;0.022	T	0.28554	-1.0040	8	.	.	.	.	2.0104	0.03486	0.1858:0.2673:0.397:0.1499	.	305;735	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	735	ENSP00000026218:V735I	.	V	+	1	0	PIGQ	573555	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.619000	0.02048	-1.407000	0.02043	0.449000	0.29647	GTC		0.627	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		37	410	0	0	0	1	0	37	410					A	633554	G	A	633554	3	1	79	1	0	0	0	0	1	0	0	0	11938	1145	40	1	2303	1	PIGQ	16	633554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323	633554	89721199	15802	26119											
RAB40C	57799	broad.mit.edu	37	chr16	676048	676048	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgcaacttcaacgtcatCgagtccttcacggagctatc	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000248139.3	+	5	695	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000535977.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	164					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(490-492)atC>atT		RAB40C, member RAS oncogene family							111	95	101					16																	676048		2201	4300	6501	SO:0001819	synonymous_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676048C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.492C>T	16.37:g.676048C>T						RAB40C_ENST00000248139.3_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I	p.I164I	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			6	714	+		Hepatocellular(780;0.0218)	164					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	37	c.492C>T	CCDS10413.1																																																																																				0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		101	430	0	0	0	1	0	101	430					T	676048	C	T	676048	2	4	79	1	0	0	0	0	0	0	0	1	12992	874	31	1		1	RAB40C	16	676048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42494	676048	89678705	15803	26120											
RAB40C	57799	broad.mit.edu	37	chr16	677435	677435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcccgtcaccatcaagaGccacctcaagtccttctcga	6	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000248139.3	+	6	862	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	220	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(658-660)aGc>aAc		RAB40C, member RAS oncogene family							176	146	157					16																	677435		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677435G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.659G>A	16.37:g.677435G>A	ENSP00000248139:p.Ser220Asn					RAB40C_ENST00000248139.3_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N	p.S220N	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	881	+		Hepatocellular(780;0.0218)	220			SOCS box.		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.659G>A	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145907	0.94603	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.17	4.21	0.49690	SOCS protein, C-terminal (4);	0.264812	0.41823	N	0.000801	T	0.57621	0.2066	M	0.62723	1.935	0.58432	D	0.999996	D;D	0.57571	0.98;0.98	P;P	0.62740	0.906;0.906	T	0.61227	-0.7105	10	0.87932	D	0	.	12.3215	0.54987	0.0817:0.0:0.9183:0.0	.	220;201	Q96S21;Q5PXE8	RB40C_HUMAN;.	N	220	ENSP00000438492:S220N;ENSP00000445050:S220N;ENSP00000438382:S220N;ENSP00000248139:S220N	ENSP00000248139:S220N	S	+	2	0	RAB40C	617436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	1.169000	0.42739	0.561000	0.74099	AGC		0.657	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		123	646	0	0	0	1	0	123	646					A	677435	G	A	677435	3	1	79	1	0	0	0	0	1	0	0	0	12992	971	34	2	681	2	RAB40C	16	677435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1387	677435	89677318	15804	26121											
FAM195A	84331	broad.mit.edu	37	chr16	697444	697444	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcttgtgttcaatcgTgtgaatggccggcgggcccc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R	WDR90_ENST00000549091.1_5'Flank|WDR90_ENST00000293879.4_5'Flank|AL022341.3_ENST00000455294.1_RNA	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632																																						ENST00000307650.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						c.(208-210)cgT>cgG		family with sequence similarity 195, member A							84	75	78					16																	697444		2200	4300	6500	SO:0001819	synonymous_variant	84331							g.chr16:697444T>G	BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366			14142	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 14"	C16orf14		12477932	Standard	NM_138418		Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.210T>G	16.37:g.697444T>G							p.R70R	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN			3	389	+			70					Q969E9|Q96KV8	Silent	SNP	ENST00000307650.4	37	c.210T>G	CCDS10415.1																																																																																				0.632	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2	NM_138418		56	213	0	0	0	1	0	56	213					G	697444	T	G	697444	2	3	79	1	0	0	0	0	0	0	0	1	5548	1683	59	4		4	FAM195A	16	697444	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20009	697444	89657309	15805	26122											
WDR90	197335	broad.mit.edu	37	chr16	701862	701862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcacccaggcccttcccGgaggtcagcctgtcccaaga	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000293879.4	+	9	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_ENST00000549091.1_Silent_p.P292P|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(874-876)ccG>ccA		WD repeat domain 90							22	28	26					16																	701862		2097	4227	6324	SO:0001819	synonymous_variant	197335							g.chr16:701862G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.876G>A	16.37:g.701862G>A						WDR90_ENST00000293879.4_Silent_p.P292P	p.P292P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			9	968	+		Hepatocellular(780;0.0218)	292					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.876G>A	CCDS42092.1																																																																																				0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		41	202	0	0	0	1	0	41	202					A	701862	G	A	701862	2	1	79	1	0	0	0	0	0	0	0	1	17391	1103	39	1		1	WDR90	16	701862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4418	701862	89652891	15806	26123											
WDR90	197335	broad.mit.edu	37	chr16	702503	702503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgaggctcaagggcGtcatcggctttgggggccac	15	12	2	1	rs200520816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:702503G>A	ENST00000293879.4	+	10	1090	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	WDR90_ENST00000549091.1_Missense_Mutation_p.V364I|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	364										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTCAAGGGCGTCATCGGCTT	0.637																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1090-1092)Gtc>Atc		WD repeat domain 90							58	67	64					16																	702503		2067	4208	6275	SO:0001583	missense	197335							g.chr16:702503G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1090G>A	16.37:g.702503G>A	ENSP00000293879:p.Val364Ile					WDR90_ENST00000293879.4_Missense_Mutation_p.V364I	p.V364I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			10	1182	+		Hepatocellular(780;0.0218)	364					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1090G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	5.575	0.290873	0.10567	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01335	5.0;5.0	4.75	1.72	0.24424	.	0.207319	0.30473	U	0.009546	T	0.01061	0.0035	L	0.39245	1.2	0.35522	D	0.801523	B;B;B	0.32781	0.015;0.016;0.384	B;B;B	0.19148	0.012;0.005;0.024	T	0.52320	-0.8591	10	0.08381	T	0.77	.	7.5264	0.27658	0.3546:0.0:0.6454:0.0	.	364;365;364	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	I	364	ENSP00000448122:V364I;ENSP00000293879:V364I	ENSP00000293879:V364I	V	+	1	0	WDR90	642504	0.884000	0.30299	0.383000	0.26132	0.644000	0.38419	2.143000	0.42187	0.458000	0.26988	-0.221000	0.12465	GTC		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		72	318	0	0	0	1	0	72	318					A	702503	G	A	702503	3	1	79	1	0	0	0	0	1	0	0	0	17391	1145	40	1	1128	1	WDR90	16	702503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641	702503	89652250	15807	26124											
WDR90	197335	broad.mit.edu	37	chr16	705640	705640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtcgtgcggcatgccCgccgcctgctccccacacgg	13	18	0	0	rs368151213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000293879.4	+	16	1786	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	WDR90_ENST00000549091.1_Missense_Mutation_p.R596S|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	596										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGCATGCCCGCCGCCTGCT	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1786-1788)Cgc>Agc		WD repeat domain 90							17	21	20					16																	705640		2169	4262	6431	SO:0001583	missense	197335							g.chr16:705640C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1786C>A	16.37:g.705640C>A	ENSP00000293879:p.Arg596Ser					LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.R596S	p.R596S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			16	1878	+		Hepatocellular(780;0.0218)	596					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1786C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541312	0.45280	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.33438	1.44;1.41	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000002	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.70227	0.923;0.919;0.921;0.968	T	0.46005	-0.9222	10	0.23302	T	0.38	.	11.7813	0.52016	0.1755:0.8245:0.0:0.0	.	596;596;597;596	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	S	596	ENSP00000448122:R596S;ENSP00000293879:R596S	ENSP00000293879:R596S	R	+	1	0	WDR90	645641	0.988000	0.35896	0.302000	0.25058	0.141000	0.21300	2.803000	0.47924	2.157000	0.67596	0.561000	0.74099	CGC		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		9	85	1	0	0.00448238	1	0.00451339	9	85					A	705640	C	A	705640	3	1	79	1	0	0	0	0	1	0	0	0	17391	652	23	3	1848	3	WDR90	16	705640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3137	705640	89649113	15808	26125											
WDR90	197335	broad.mit.edu	37	chr16	708580	708580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcagtgaggacgcccGcttcctgctgattgccgccg	13	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000293879.4	+	23	2822	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_ENST00000549091.1_Missense_Mutation_p.R941H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2821-2823)cGc>cAc		WD repeat domain 90							42	50	47					16																	708580		2079	4190	6269	SO:0001583	missense	197335							g.chr16:708580G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2822G>A	16.37:g.708580G>A	ENSP00000293879:p.Arg941His					WDR90_ENST00000293879.4_Missense_Mutation_p.R941H	p.R941H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			23	2914	+		Hepatocellular(780;0.0218)	941					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2822G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785589	0.16189	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.53423	0.62;3.51	5.12	-2.04	0.07343	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.080706	0.50627	U	0.000119	T	0.32315	0.0825	L	0.50847	1.595	0.09310	N	1	B;B	0.27971	0.066;0.196	B;B	0.18561	0.011;0.022	T	0.15178	-1.0446	10	0.31617	T	0.26	.	7.9236	0.29861	0.3941:0.1034:0.5026:0.0	.	941;941	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	941	ENSP00000448122:R941H;ENSP00000293879:R941H	ENSP00000293879:R941H	R	+	2	0	WDR90	648581	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.987000	0.29603	-0.231000	0.09825	-0.140000	0.14226	CGC		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		107	359	0	0	0	1	0	107	359					A	708580	G	A	708580	3	1	79	1	0	0	0	0	1	0	0	0	17391	1087	38	1	2912	1	WDR90	16	708580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	708580	89646173	15809	26126											
WDR90	197335	broad.mit.edu	37	chr16	708595	708595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcttcctgctgattgCcgccggccggaccatcaagg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000293879.4	+	23	2837	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_ENST00000549091.1_Missense_Mutation_p.A946D|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2836-2838)gCc>gAc		WD repeat domain 90							38	44	42					16																	708595		2058	4171	6229	SO:0001583	missense	197335							g.chr16:708595C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2837C>A	16.37:g.708595C>A	ENSP00000293879:p.Ala946Asp					WDR90_ENST00000293879.4_Missense_Mutation_p.A946D	p.A946D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			23	2929	+		Hepatocellular(780;0.0218)	946					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2837C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299650	0.60195	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.56444	0.46;3.32	5.42	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75686	0.3883	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.80754	-0.1241	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.9232:0.0:0.0768	.	946;946	F8VUX9;Q96KV7	.;WDR90_HUMAN	D	946	ENSP00000448122:A946D;ENSP00000293879:A946D	ENSP00000293879:A946D	A	+	2	0	WDR90	648596	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	6.960000	0.76036	1.294000	0.44707	-0.136000	0.14681	GCC		0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		99	335	1	0	3.07327e-39	1	3.71448e-39	99	335					A	708595	C	A	708595	3	1	79	1	0	0	0	0	1	0	0	0	17391	739	26	3	2927	3	WDR90	16	708595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	708595	89646158	15810	26127											
RHOT2	89941	broad.mit.edu	37	chr16	718508	718508	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccctccccgcgcggaggaGatcaccatccccgcggacgt	12	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	39	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGCGGAGGAGATCACCATCC	0.761																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(115-117)gaG>gaT		ras homolog family member T2							16	20	19					16																	718508		2111	4220	6331	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:718508G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.117G>T	16.37:g.718508G>T	ENSP00000321971:p.Glu39Asp					RHOT2_ENST00000569943.2_3'UTR	p.E39D	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			3	231	+		Hepatocellular(780;0.0218)	39			Miro 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.117G>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095509	0.36952	.	.	ENSG00000140983	ENST00000315082	T	0.77229	-1.08	3.91	3.91	0.45181	MIRO (1);	0.000000	0.85682	U	0.000000	D	0.82637	0.5080	M	0.63428	1.95	0.49130	D	0.999752	D	0.63880	0.993	P	0.61940	0.896	D	0.83593	0.0124	10	0.72032	D	0.01	-9.6593	8.9251	0.35634	0.1049:0.0:0.8951:0.0	.	39	Q8IXI1	MIRO2_HUMAN	D	39	ENSP00000321971:E39D	ENSP00000321971:E39D	E	+	3	2	RHOT2	658509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.973000	0.56845	1.744000	0.51775	0.306000	0.20318	GAG		0.761	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		46	194	1	0	6.88607e-10	1	7.27523e-10	46	194					T	718508	G	T	718508	3	4	79	1	0	0	0	0	1	0	0	0	13394	933	33	3	127	3	RHOT2	16	718508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	718508	89636245	15811	26128											
RHOT2	89941	broad.mit.edu	37	chr16	720170	720170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggggggaccacgcagggGcccaggtaatgaggggatgt	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	108	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(322-324)ggG>ggA		ras homolog family member T2							39	42	41					16																	720170		2195	4296	6491	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:720170G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.324G>A	16.37:g.720170G>A						RHOT2_ENST00000569943.2_3'UTR	p.G108G	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			6	438	+		Hepatocellular(780;0.0218)	108			Miro 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.324G>A	CCDS10417.1																																																																																				0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		54	261	0	0	0	1	0	54	261					A	720170	G	A	720170	2	1	79	1	0	0	0	0	0	0	0	1	13394	1190	42	2		2	RHOT2	16	720170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1662	720170	89634583	15812	26129											
RHOT2	89941	broad.mit.edu	37	chr16	721082	721082	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctttgtctcggtgcaGgtttcctcttcctgaacacg	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721082G>T	ENST00000315082.4	+	11	862		c.e11-1			NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCTCGGTGCAGGTTTCCTCTT	0.677																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.e11-1		ras homolog family member T2							68	63	64					16																	721082		2199	4297	6496	SO:0001630	splice_region_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721082G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.749-1G>T	16.37:g.721082G>T								NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			11	862	+		Hepatocellular(780;0.0218)						A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Splice_Site	SNP	ENST00000315082.4	37		CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437089	0.25900	.	.	ENSG00000140983	ENST00000315082	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6718	0.88220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOT2	661083	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	9.477000	0.97925	2.520000	0.84964	0.561000	0.74099	.		0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769	Intron	11	417	1	0	0.0692343	1	0.0693721	11	417					T	721082	G	T	721082	5	4	79	1	0	0	0	0	0	0	1	0	13394	1014	35	3	790	3	RHOT2	16	721082	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	912	721082	89633671	15813	26130											
RHOT2	89941	broad.mit.edu	37	chr16	721923	721923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgtgttcccagcagcgCcctggggccccgagctccca	12	17	1	0	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	340					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1018-1020)Ccc>Tcc		ras homolog family member T2		C	SER/PRO	0,4400		0,0,2200	51	63	59		1018	5.3	1	16	dbSNP_132	59	1,8587	1.2+/-3.3	0,1,4293	no	missense	RHOT2	NM_138769.1	74	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	340/619	721923	1,12987	2200	4294	6494	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721923C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1018C>T	16.37:g.721923C>T	ENSP00000321971:p.Pro340Ser						p.P340S	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1132	+		Hepatocellular(780;0.0218)	340					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1018C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001027	0.93227	0.0	1.16E-4	ENSG00000140983	ENST00000315082	T	0.09073	3.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.72032	D	0.01	-3.178	17.5876	0.87987	0.0:1.0:0.0:0.0	.	340	Q8IXI1	MIRO2_HUMAN	S	340	ENSP00000321971:P340S	ENSP00000321971:P340S	P	+	1	0	RHOT2	661924	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.697000	0.84279	2.503000	0.84419	0.456000	0.33151	CCC		0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		123	583	0	0	0	1	0	123	583					T	721923	C	T	721923	3	4	79	1	0	0	0	0	1	0	0	0	13394	739	26	2	1068	2	RHOT2	16	721923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	721923	89632830	15814	26131											
RHOT2	89941	broad.mit.edu	37	chr16	721946	721946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccccgagctcccacgCacagtccgcacagaggccgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1039-1041)cgC>cgT		ras homolog family member T2							50	61	57					16																	721946		2201	4296	6497	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721946C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1041C>T	16.37:g.721946C>T							p.R347R	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1155	+		Hepatocellular(780;0.0218)	347					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1041C>T	CCDS10417.1																																																																																				0.701	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		128	563	0	0	0	1	0	128	563					T	721946	C	T	721946	2	4	79	1	0	0	0	0	0	0	0	1	13394	697	25	2		2	RHOT2	16	721946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	721946	89632807	15815	26132											
WDR24	84219	broad.mit.edu	37	chr16	734755	734755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtactcgcagaggtgGccgcagcctgcgggacagtg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000248142.6	-	13	2741	c.2742C>T	c.(2740-2742)ggC>ggT	p.G914G	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Silent_p.G784G|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(2350-2352)ggC>ggT		WD repeat domain 24							15	15	15					16																	734755		2166	4264	6430	SO:0001819	synonymous_variant	84219							g.chr16:734755G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2742C>T	16.37:g.734755G>A						WDR24_ENST00000248142.6_Silent_p.G914G	p.G784G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			9	3111	-		Hepatocellular(780;0.0218)	914					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.2352C>T																																																																																					0.697	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		9	46	0	0	0	1	0	9	46					A	734755	G	A	734755	2	1	79	1	0	0	0	0	0	0	0	1	17335	1190	42	2		2	WDR24	16	734755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12809	734755	89619998	15816	26133											
WDR24	84219	broad.mit.edu	37	chr16	737061	737061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaggccctcagggtTggcgcgctcgacgggctggc	18	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000248142.6	-	7	1404	c.1405A>T	c.(1405-1407)Aac>Tac	p.N469Y	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.N339Y|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1015-1017)Aac>Tac		WD repeat domain 24							13	17	15					16																	737061		2189	4288	6477	SO:0001583	missense	84219							g.chr16:737061T>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1405A>T	16.37:g.737061T>A	ENSP00000248142:p.Asn469Tyr					WDR24_ENST00000248142.6_Missense_Mutation_p.N469Y	p.N339Y	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1774	-		Hepatocellular(780;0.0218)	469					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1015A>T		.	.	.	.	.	.	.	.	.	.	T	19.02	3.745631	0.69418	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79554	-1.28;0.15	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89353	0.3662	10	0.72032	D	0.01	-23.566	13.5165	0.61543	0.0:0.0:0.0:1.0	.	339	Q96S15-2	.	Y	469;339	ENSP00000248142:N469Y;ENSP00000293883:N339Y	ENSP00000248142:N469Y	N	-	1	0	WDR24	677062	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.142000	0.77339	2.033000	0.60031	0.533000	0.62120	AAC		0.706	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		23	96	0	0	0	1	0	23	96					A	737061	T	A	737061	3	1	79	1	0	0	0	0	1	0	0	0	17335	1812	63	5	1385	5	WDR24	16	737061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2306	737061	89617692	15817	26134											
WDR24	84219	broad.mit.edu	37	chr16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcccgtggtgacgtctcGgtgttcctcaaacatggcag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000248142.6	-	7	1278	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.R297*|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(889-891)Cga>Tga		WD repeat domain 24							46	52	50					16																	737187		2199	4300	6499	SO:0001587	stop_gained	84219							g.chr16:737187G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1279C>T	16.37:g.737187G>A	ENSP00000248142:p.Arg427*					WDR24_ENST00000248142.6_Nonsense_Mutation_p.R427*	p.R297*	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1648	-		Hepatocellular(780;0.0218)	427					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Nonsense_Mutation	SNP	ENST00000248142.6	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.683699	0.98914	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.55	4.55	0.56014	.	0.067073	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-16.6398	10.3454	0.43903	0.0:0.0:0.7036:0.2964	.	.	.	.	X	427;297	.	ENSP00000248142:R427X	R	-	1	2	WDR24	677188	1.000000	0.71417	0.993000	0.49108	0.424000	0.31475	6.039000	0.70972	2.513000	0.84729	0.655000	0.94253	CGA		0.637	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		57	277	0	0	0	1	0	57	277					A	737187	G	A	737187	4	1	79	1	0	0	0	0	0	1	0	0	17335	1124	39	1	1511	1	WDR24	16	737187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	737187	89617566	15818	26135											
WDR24	84219	broad.mit.edu	37	chr16	739280	739280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactttgtttaccgtgcGcttgtgttctgtgaacagct	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000248142.6	-	3	546	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	WDR24_ENST00000293883.4_Missense_Mutation_p.R121C|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(361-363)Cgc>Tgc		WD repeat domain 24							132	100	111					16																	739280		2200	4300	6500	SO:0001583	missense	84219							g.chr16:739280G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.547C>T	16.37:g.739280G>A	ENSP00000248142:p.Arg183Cys					WDR24_ENST00000248142.6_Missense_Mutation_p.R183C	p.R121C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			1	1120	-		Hepatocellular(780;0.0218)	183					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.361C>T		.	.	.	.	.	.	.	.	.	.	g	33	5.223778	0.95139	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76748	-0.2845	10	0.56958	D	0.05	-15.7029	17.5824	0.87972	0.0:0.0:1.0:0.0	.	121	Q96S15-2	.	C	183;121	ENSP00000248142:R183C;ENSP00000293883:R121C	ENSP00000248142:R183C	R	-	1	0	WDR24	679281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.132000	0.94455	2.391000	0.81399	0.561000	0.74099	CGC		0.597	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		43	216	0	0	0	1	0	43	216					A	739280	G	A	739280	3	1	79	1	0	0	0	0	1	0	0	0	17335	1087	38	1	2047	1	WDR24	16	739280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2093	739280	89615473	15819	26136											
CCDC78	124093	broad.mit.edu	37	chr16	775563	775563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccagctccagtacccgGctctccagccgaaggatctg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	95					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(283-285)agC>agT		coiled-coil domain containing 78							38	38	38					16																	775563		2190	4296	6486	SO:0001819	synonymous_variant	124093							g.chr16:775563G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.285C>T	16.37:g.775563G>A							p.S95S	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			4	390	-		Hepatocellular(780;0.0218)	95					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.285C>T	CCDS32353.1																																																																																				0.667	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		45	185	0	0	0	1	0	45	185					A	775563	G	A	775563	2	1	79	1	0	0	0	0	0	0	0	1	2859	1194	42	2		2	CCDC78	16	775563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36283	775563	89579190	15820	26137											
NARFL	64428	broad.mit.edu	37	chr16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgccgcacaaactctcGctggctctccaggaggctga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000251588.2	-	5	515	c.499C>T	c.(499-501)Cga>Tga	p.R167*	NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000301694.5_Silent_p.S122S|HAGHL_ENST00000569604.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	167					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACAAACTCTCGCTGGCTCTCC	0.647																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(193-195)Cga>Tga		nuclear prelamin A recognition factor-like							72	71	71					16																	784812		2200	4300	6500	SO:0001587	stop_gained	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784812G>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.499C>T	16.37:g.784812G>A	ENSP00000251588:p.Arg167*					HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000251588.2_Nonsense_Mutation_p.R167*|NARFL_ENST00000301694.5_Silent_p.S122S|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*	p.R65*			Q9H6Q4	NARFL_HUMAN			4	1628	-		Hepatocellular(780;0.0218)	167					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Nonsense_Mutation	SNP	ENST00000251588.2	37	c.193C>T	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	g	40	8.095785	0.98651	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	5.48	3.47	0.39725	.	0.111691	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-24.7795	8.8158	0.34996	0.0722:0.0:0.6566:0.2711	.	.	.	.	X	167;65	.	ENSP00000251588:R167X	R	-	1	2	NARFL	724813	0.965000	0.33210	0.958000	0.39756	0.920000	0.55202	1.599000	0.36751	0.641000	0.30601	0.561000	0.74099	CGA		0.647	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		96	361	0	0	0	1	0	96	361					A	784812	G	A	784812	4	1	79	1	0	0	0	0	0	1	0	0	10209	1095	38	1	959	1	NARFL	16	784812	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9249	784812	89569941	15821	26138											
MSLN	10232	broad.mit.edu	37	chr16	814919	814919	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcacagcccagatgcgttCtcggggccccaggcctgcac	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000382862.3	+	7	488	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000566549.1_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	131					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(391-393)ttC>ttT		mesothelin							23	24	23					16																	814919		2177	4287	6464	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814919C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.393C>T	16.37:g.814919C>T						MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000382862.3_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F	p.F131F			Q13421	MSLN_HUMAN			7	810	+		Hepatocellular(780;0.00335)	131					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.393C>T	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			32	108	0	0	0	1	0	32	108					T	814919	C	T	814919	2	4	79	1	0	0	0	0	0	0	0	1	9922	912	32	2		2	MSLN	16	814919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30107	814919	89539834	15822	26139											
MSLNL	401827	broad.mit.edu	37	chr16	819456	819456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtcagcccaagtgggCgtccagctgaatctaacacc	11	15	2	1	rs377582247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000442466.1	-	15	2080	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MSLNL_ENST00000293892.3_Missense_Mutation_p.R1045H|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	694					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(3133-3135)cGc>cAc		mesothelin-like							68	80	76					16																	819456		2049	4192	6241	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:819456C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.2081G>A	16.37:g.819456C>T	ENSP00000415767:p.Arg694His					MSLNL_ENST00000442466.1_Missense_Mutation_p.R694H	p.R1045H			Q96KJ4	MSLNL_HUMAN			16	3133	-			694						Missense_Mutation	SNP	ENST00000442466.1	37	c.3134G>A		.	.	.	.	.	.	.	.	.	.	C	3.391	-0.124381	0.06795	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19938	2.11;2.51;2.12	2.98	-5.47	0.02600	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.04013	0.001	T	0.31806	-0.9930	8	0.87932	D	0	.	4.8329	0.13449	0.0:0.2008:0.3172:0.482	.	694	Q96KJ4	MSLNL_HUMAN	H	744;694;1045	ENSP00000441381:R744H;ENSP00000415767:R694H;ENSP00000293892:R1045H	ENSP00000293892:R1045H	R	-	2	0	MSLNL	759457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.901000	0.00338	-1.098000	0.03038	-0.693000	0.03709	CGC		0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		74	281	0	0	0	1	0	74	281					T	819456	C	T	819456	3	4	79	1	0	0	0	0	1	0	0	0	9923	768	27	1	31	1	MSLNL	16	819456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4537	819456	89535297	15823	26140											
MSLNL	401827	broad.mit.edu	37	chr16	820164	820164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctggcgtccaggcCgagctggcccagggtggagc	21	11	0	0	rs370742535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000442466.1	-	14	1767	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	MSLNL_ENST00000293892.3_Missense_Mutation_p.G941S|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	590					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGTCCAGGCCGAGCTGGCCC	0.721																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2821-2823)Ggc>Agc		mesothelin-like			SER/GLY	0,4314		0,0,2157	11	13	13		2821	3.5	0.9	16		13	1,8523		0,1,4261	no	missense	MSLNL	NM_001025190.1	56	0,1,6418	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	941/1054	820164	1,12837	2157	4262	6419	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:820164C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1768G>A	16.37:g.820164C>T	ENSP00000415767:p.Gly590Ser					MSLNL_ENST00000442466.1_Missense_Mutation_p.G590S	p.G941S			Q96KJ4	MSLNL_HUMAN			15	2820	-			590						Missense_Mutation	SNP	ENST00000442466.1	37	c.2821G>A		.	.	.	.	.	.	.	.	.	.	c	15.92	2.974818	0.53720	0.0	1.17E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.22336	1.96;1.96;1.96	4.44	3.48	0.39840	.	0.147080	0.45126	D	0.000392	T	0.16514	0.0397	.	.	.	0.31954	N	0.609335	P	0.40050	0.7	B	0.36378	0.223	T	0.15694	-1.0428	9	0.54805	T	0.06	-41.6552	10.5908	0.45308	0.0:0.8045:0.1955:0.0	.	590	Q96KJ4	MSLNL_HUMAN	S	640;590;941	ENSP00000441381:G640S;ENSP00000415767:G590S;ENSP00000293892:G941S	ENSP00000293892:G941S	G	-	1	0	MSLNL	760165	0.988000	0.35896	0.930000	0.37139	0.005000	0.04900	0.643000	0.24750	1.215000	0.43411	0.537000	0.68136	GGC		0.721	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		7	84	0	0	0	1	0	7	84					T	820164	C	T	820164	3	4	79	1	0	0	0	0	1	0	0	0	9923	652	23	1	348	1	MSLNL	16	820164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	708	820164	89534589	15824	26141											
RPUSD1	113000	broad.mit.edu	37	chr16	836178	836178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgtgggggctccaGcaggcatccagggagggcag	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000567114.1_Silent_p.C108C|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	237					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGGGCTCCAGCAGGCATCCA	0.667																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(709-711)tgC>tgT		RNA pseudouridylate synthase domain containing 1							54	64	61					16																	836178		2200	4296	6496	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836178G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.711C>T	16.37:g.836178G>A						RPUSD1_ENST00000567114.1_Silent_p.C108C|RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000565809.1_3'UTR	p.C237C			Q9UJJ7	RUSD1_HUMAN			5	954	-		Hepatocellular(780;0.00335)	237					D3DU66	Silent	SNP	ENST00000561734.1	37	c.711C>T	CCDS10426.1																																																																																				0.667	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		23	505	0	0	0	1	0	23	505					A	836178	G	A	836178	2	1	79	1	0	0	0	0	0	0	0	1	13716	963	34	2		2	RPUSD1	16	836178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16014	836178	89518575	15825	26142											
RPUSD1	113000	broad.mit.edu	37	chr16	836310	836310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcccgagacttctccGtaggtcaggtcgcccaccac	10	18	2	1	rs367977361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836310G>A	ENST00000561734.1	-	5	822	c.579C>T	c.(577-579)taC>taT	p.Y193Y	CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.Y193Y|RPUSD1_ENST00000567114.1_Silent_p.Y64Y|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	193					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				AGACTTCTCCGTAGGTCAGGT	0.677																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(577-579)taC>taT		RNA pseudouridylate synthase domain containing 1		G		0,4400		0,0,2200	53	61	58		579	-5.4	0.3	16		58	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	RPUSD1	NM_058192.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		193/313	836310	2,12996	2200	4299	6499	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836310G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.579C>T	16.37:g.836310G>A						RPUSD1_ENST00000567114.1_Silent_p.Y64Y|RPUSD1_ENST00000007264.2_Silent_p.Y193Y|RPUSD1_ENST00000565809.1_3'UTR	p.Y193Y			Q9UJJ7	RUSD1_HUMAN			5	822	-		Hepatocellular(780;0.00335)	193					D3DU66	Silent	SNP	ENST00000561734.1	37	c.579C>T	CCDS10426.1																																																																																				0.677	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		14	580	0	0	0	1	0	14	580					A	836310	G	A	836310	2	1	79	1	0	0	0	0	0	0	0	1	13716	1140	40	1		1	RPUSD1	16	836310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	836310	89518443	15826	26143											
CHTF18	63922	broad.mit.edu	37	chr16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtctctctccagagtctcaGaagctgctgccgacgtgggt	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000262315.9	+	4	508	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	149					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(1036-1038)Gaa>Taa		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							41	48	45					16																	839554		2050	4184	6234	SO:0001587	stop_gained	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:839554G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.445G>T	16.37:g.839554G>T	ENSP00000262315:p.Glu149*					CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|CHTF18_ENST00000262315.9_Nonsense_Mutation_p.E149*	p.E346*			Q8WVB6	CTF18_HUMAN			5	1036	+		Hepatocellular(780;0.00335)	149					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Nonsense_Mutation	SNP	ENST00000262315.9	37	c.1036G>T	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599175|3.599175	0.66332|0.66332	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	.|.	.|.	.|.	4.17|4.17	3.21|3.21	0.36854|0.36854	.|.	1.724250|.	0.02839|.	N|.	0.127711|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|3	0.06365|.	T|.	0.9|.	-14.3195|-14.3195	6.4388|6.4388	0.21839|0.21839	0.2197:0.0:0.7803:0.0|0.2197:0.0:0.7803:0.0	.|.	.|.	.|.	.|.	X|I	346;177;149|19	.|.	ENSP00000262315:E149X|.	E|R	+|+	1|2	0|0	CHTF18|CHTF18	779555|779555	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.817000|0.817000	0.27281|0.27281	1.093000|1.093000	0.41377|0.41377	0.549000|0.549000	0.68633|0.68633	GAA|AGA		0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		72	348	1	0	5.21738e-30	1	6.11032e-30	72	348					T	839554	G	T	839554	4	4	79	1	0	0	0	0	0	1	0	0	3423	943	33	3	459	3	CHTF18	16	839554	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3244	839554	89515199	15827	26144											
CHTF18	63922	broad.mit.edu	37	chr16	841944	841944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtggtggagatgaacGccaggtgagtgatgtgaggt	17	5	1	5	rs368315905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000262315.9	+	9	1261	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T|CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	400					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(1783-1785)Gcc>Acc		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)		G	THR/ALA	0,4338		0,0,2169	51	53	52		1198	5	0.8	16		52	2,8538		0,2,4268	no	missense	CHTF18	NM_022092.2	58	0,2,6437	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	400/976	841944	2,12876	2169	4270	6439	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:841944G>A	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1198G>A	16.37:g.841944G>A	ENSP00000262315:p.Ala400Thr					CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T|CHTF18_ENST00000262315.9_Missense_Mutation_p.A400T	p.A595T			Q8WVB6	CTF18_HUMAN			10	1783	+		Hepatocellular(780;0.00335)	400					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.1783G>A	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750830	0.89753	0.0	2.34E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55547	-0.8124	10	0.87932	D	0	-14.4997	15.8801	0.79197	0.0:0.0:1.0:0.0	.	428;400	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	T	595;428;400	ENSP00000313029:A595T;ENSP00000406252:A428T;ENSP00000262315:A400T	ENSP00000262315:A400T	A	+	1	0	CHTF18	781945	1.000000	0.71417	0.806000	0.32338	0.365000	0.29674	9.587000	0.98229	2.344000	0.79699	0.591000	0.81541	GCC		0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	71	0	0	0	1	0	10	71					A	841944	G	A	841944	3	1	79	1	0	0	0	0	1	0	0	0	3423	1087	38	1	1232	1	CHTF18	16	841944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	841944	89512809	15828	26145											
LMF1	64788	broad.mit.edu	37	chr16	921238	921238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcaggctgcctggcccaGaggggaacaagaatcccagg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	334					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCTGGCCCAGAGGGGAACAA	0.642																																						ENST00000262301.11																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18						c.(1000-1002)tCt>tAt		lipase maturation factor 1							28	34	32					16																	921238		2027	4161	6188	SO:0001583	missense	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:921238G>T	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1001C>A	16.37:g.921238G>T	ENSP00000262301:p.Ser334Tyr					LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y	p.S334Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN			7	1019	-		Hepatocellular(780;0.00308)	334					Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	37	c.1001C>A	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504376	0.44558	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25414	1.8;1.8;1.8	5.48	4.51	0.55191	.	0.262403	0.38605	N	0.001621	T	0.30355	0.0762	M	0.80616	2.505	0.80722	D	1	P	0.38223	0.623	B	0.30251	0.113	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.2062	14.3017	0.66357	0.0:0.0:0.8501:0.1499	.	334	Q96S06	LMF1_HUMAN	Y	334;334;117;88;97	ENSP00000262301:S334Y;ENSP00000382737:S334Y;ENSP00000437418:S97Y	ENSP00000262301:S334Y	S	-	2	0	LMF1	861239	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	4.439000	0.59968	1.298000	0.44778	0.561000	0.74099	TCT		0.642	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		8	106	1	0	5.18039e-06	1	5.32547e-06	8	106					T	921238	G	T	921238	3	4	79	1	0	0	0	0	1	0	0	0	8878	942	33	3	722	3	LMF1	16	921238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79294	921238	89433515	15829	26146											
SOX8	30812	broad.mit.edu	37	chr16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggagctcagcagcgagGtcatgggcaccatggacgcc	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	273					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(817-819)Gtc>Atc		SRY (sex determining region Y)-box 8							39	37	37					16																	1034862		2199	4297	6496	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034862G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.817G>A	16.37:g.1034862G>A	ENSP00000293894:p.Val273Ile						p.V273I	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	932	+		Hepatocellular(780;0.00308)	273					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.817G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054954	0.93793	.	.	ENSG00000005513	ENST00000293894	T	0.80123	-1.34	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89163	3.01	0.58432	D	0.999999	D	0.61080	0.989	D	0.64410	0.925	D	0.91694	0.5368	10	0.52906	T	0.07	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	273	P57073	SOX8_HUMAN	I	273	ENSP00000293894:V273I	ENSP00000293894:V273I	V	+	1	0	SOX8	974863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.309000	0.77851	0.650000	0.86243	GTC		0.697	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			49	199	0	0	0	1	0	49	199					A	1034862	G	A	1034862	3	1	79	1	0	0	0	0	1	0	0	0	15007	1261	44	2	827	2	SOX8	16	1034862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113624	1034862	89319891	15830	26147											
SOX8	30812	broad.mit.edu	37	chr16	1034993	1034993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggggcgtcccccgtgtgGgcccacaagagtgccccgtc	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	ENST00000293894.3	+	3	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	316					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCCGTGTGGGCCCACAAGA	0.756																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(946-948)tgG>tgT		SRY (sex determining region Y)-box 8							6	8	7					16																	1034993		2047	4058	6105	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034993G>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.948G>T	16.37:g.1034993G>T	ENSP00000293894:p.Trp316Cys						p.W316C	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1063	+		Hepatocellular(780;0.00308)	316					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.948G>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057114	0.36277	.	.	ENSG00000005513	ENST00000293894	T	0.75938	-0.98	4.31	3.36	0.38483	.	0.116020	0.64402	D	0.000006	D	0.87059	0.6083	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87194	0.2236	10	0.62326	D	0.03	.	8.6232	0.33872	0.0871:0.1533:0.7596:0.0	.	316	P57073	SOX8_HUMAN	C	316	ENSP00000293894:W316C	ENSP00000293894:W316C	W	+	3	0	SOX8	974994	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	4.104000	0.57790	1.045000	0.40225	0.650000	0.86243	TGG		0.756	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			18	61	1	0	1.99824e-07	1	2.07512e-07	18	61					T	1034993	G	T	1034993	3	4	79	1	0	0	0	0	1	0	0	0	15007	1241	43	3	958	3	SOX8	16	1034993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	1034993	89319760	15831	26148											
SOX8	30812	broad.mit.edu	37	chr16	1035032	1035032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctccgcgtcgcccacCgagacgggtcccccacggcc	12	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	329					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(985-987)acC>acT		SRY (sex determining region Y)-box 8							4	5	5					16																	1035032		1823	3784	5607	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035032C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.987C>T	16.37:g.1035032C>T							p.T329T	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1102	+		Hepatocellular(780;0.00308)	329					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.987C>T	CCDS10428.1																																																																																				0.751	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			17	69	0	0	0	1	0	17	69					T	1035032	C	T	1035032	2	4	79	1	0	0	0	0	0	0	0	1	15007	639	23	1		1	SOX8	16	1035032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	1035032	89319721	15832	26149											
SSTR5	6755	broad.mit.edu	37	chr16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggccccgtcctgtgccGcctggtcatgacgctggacg	13	16	1	1	rs200422161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	113					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R113H(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCCTGTGCCGCCTGGTCATG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15183	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4																			1	Substitution - Missense(1)	p.R113H(1)	endometrium(1)	endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(337-339)cGc>cAc		somatostatin receptor 5	Octreotide(DB00104)						56	50	52					16																	1129206		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129206G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.338G>A	16.37:g.1129206G>A	ENSP00000293897:p.Arg113His					SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H	p.R113H	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	426	+		Hepatocellular(780;0.00369)	113					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.338G>A	CCDS10429.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.1	4.705785	0.89018	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19532	2.14;2.14	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.069740	0.56097	D	0.000032	T	0.37972	0.1023	L	0.54863	1.705	0.48696	D	0.999693	D	0.60160	0.987	P	0.57846	0.828	T	0.17107	-1.0380	10	0.62326	D	0.03	.	16.9817	0.86329	0.0:0.0:1.0:0.0	.	113	P35346	SSR5_HUMAN	H	113	ENSP00000380680:R113H;ENSP00000293897:R113H	ENSP00000293897:R113H	R	+	2	0	SSTR5	1069207	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.360000	0.66086	2.260000	0.74910	0.561000	0.74099	CGC		0.652	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			29	305	0	0	0	1	0	29	305					A	1129206	G	A	1129206	3	1	79	1	0	0	0	0	1	0	0	0	15253	1087	38	1	340	1	SSTR5	16	1129206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94174	1129206	89225547	15833	26150											
SSTR5	6755	broad.mit.edu	37	chr16	1129417	1129417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcggacgtgcaggagggCggtacctgcaacgccagctg	16	12	0	0	rs375313304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13414	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(547-549)ggC>ggT		somatostatin receptor 5	Octreotide(DB00104)	C	,	4,4340		0,4,2168	19	23	22		549,549	1.3	1	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC		0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129417C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	16.37:g.1129417C>T						SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G	p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	637	+		Hepatocellular(780;0.00369)	183					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.549C>T	CCDS10429.1																																																																																				0.716	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			30	108	0	0	0	1	0	30	108					T	1129417	C	T	1129417	2	4	79	1	0	0	0	0	0	0	0	1	15253	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	1129417	89225336	15834	26151											
SSTR5	6755	broad.mit.edu	37	chr16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcttcatcatctacaCggccgtgctgggcttcttcg	10	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	205					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTACACGGCCGTGCTG	0.697																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(613-615)aCg>aTg		somatostatin receptor 5	Octreotide(DB00104)						40	42	42					16																	1129482		2183	4294	6477	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129482C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.614C>T	16.37:g.1129482C>T	ENSP00000293897:p.Thr205Met					SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M	p.T205M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	702	+		Hepatocellular(780;0.00369)	205					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.614C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563140	0.45694	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.72615	-0.67;-0.67	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.71871	2.18	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.84967	0.0880	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:1.0:0.0:0.0	.	205	P35346	SSR5_HUMAN	M	205	ENSP00000380680:T205M;ENSP00000293897:T205M	ENSP00000293897:T205M	T	+	2	0	SSTR5	1069483	1.000000	0.71417	0.968000	0.41197	0.391000	0.30476	7.602000	0.82796	2.202000	0.70862	0.561000	0.74099	ACG		0.697	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	141	0	0	0	1	0	9	141					T	1129482	C	T	1129482	3	4	79	1	0	0	0	0	1	0	0	0	15253	536	19	1	616	1	SSTR5	16	1129482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	1129482	89225271	15835	26152											
SSTR5	6755	broad.mit.edu	37	chr16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgctgccccaggagcccGcctccgccggcctctacttc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	281					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAGGAGCCCGCCTCCGCCGG	0.627																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(841-843)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)						88	93	91					16																	1129709		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129709G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.841G>A	16.37:g.1129709G>A	ENSP00000293897:p.Ala281Thr					SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5_ENST00000562758.1_Intron	p.A281T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	929	+		Hepatocellular(780;0.00369)	281					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.841G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314254	0.05422	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.594342	0.17596	N	0.168594	T	0.47820	0.1466	N	0.16602	0.42	0.18873	N	0.999989	B	0.18166	0.026	B	0.21917	0.037	T	0.24440	-1.0160	10	0.18710	T	0.47	.	5.5565	0.17119	0.1766:0.0:0.6637:0.1597	.	281	P35346	SSR5_HUMAN	T	281	ENSP00000380680:A281T;ENSP00000293897:A281T	ENSP00000293897:A281T	A	+	1	0	SSTR5	1069710	0.248000	0.23930	0.861000	0.33841	0.064000	0.16182	3.106000	0.50322	0.401000	0.25424	-0.314000	0.08810	GCC		0.627	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			85	336	0	0	0	1	0	85	336					A	1129709	G	A	1129709	3	1	79	1	0	0	0	0	1	0	0	0	15253	1087	38	1	843	1	SSTR5	16	1129709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	1129709	89225044	15836	26153											
SSTR5	6755	broad.mit.edu	37	chr16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccacccgcgcaccgcgCcgcagccaacgggcttatgc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	353					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCGCACCGCGCCGCAGCCAAC	0.711																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1057-1059)gCc>gTc		somatostatin receptor 5	Octreotide(DB00104)						13	13	13					16																	1129926		2161	4257	6418	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129926C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1058C>T	16.37:g.1129926C>T	ENSP00000293897:p.Ala353Val					SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5_ENST00000562758.1_Intron	p.A353V	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	1146	+		Hepatocellular(780;0.00369)	353					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.1058C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746364	0.30955	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	2.77	0.32553	.	1.361990	0.04495	U	0.380244	T	0.60314	0.2259	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40905	-0.9538	10	0.23891	T	0.37	.	9.249	0.37543	0.0:0.5594:0.3532:0.0874	.	353	P35346	SSR5_HUMAN	V	353	ENSP00000380680:A353V;ENSP00000293897:A353V	ENSP00000293897:A353V	A	+	2	0	SSTR5	1069927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.008000	0.13197	0.420000	0.25954	0.561000	0.74099	GCC		0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	98	0	0	0	1	0	9	98					T	1129926	C	T	1129926	3	4	79	1	0	0	0	0	1	0	0	0	15253	739	26	2	1060	2	SSTR5	16	1129926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217	1129926	89224827	15837	26154											
TPSD1	23430	broad.mit.edu	37	chr16	1306840	1306840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggtgcaactgcgggaGcagcacctctactaccagga	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.E92E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(295-297)gaG>gaA		tryptase delta 1							48	53	51					16																	1306840		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306840G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.297G>A	16.37:g.1306840G>A						TPSD1_ENST00000397534.2_Silent_p.E92E	p.E99E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			3	445	+		Hepatocellular(780;0.00369)	99			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.297G>A	CCDS10432.1																																																																																				0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			42	162	0	0	0	1	0	42	162					A	1306840	G	A	1306840	2	1	79	1	0	0	0	0	0	0	0	1	16478	962	34	2		2	TPSD1	16	1306840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176914	1306840	89047913	15838	26155											
BAIAP3	8938	broad.mit.edu	37	chr16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgcagagaggcaaccGtgagtggtacgacaggatcc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000324385.5	+	18	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	573					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1717-1719)cGt>cAt		BAI1-associated protein 3							102	102	102					16																	1394480		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394480G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1718G>A	16.37:g.1394480G>A	ENSP00000324510:p.Arg573His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H	p.R573H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			18	1876	+		Hepatocellular(780;0.0893)	573					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.1718G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870421	0.33069	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71817	-0.59;-0.59;-0.6;-0.59;-0.6	4.17	0.721	0.18219	.	0.510616	0.20686	N	0.087546	T	0.55433	0.1920	L	0.47716	1.5	0.20873	N	0.999833	P;P;P;P	0.49696	0.916;0.834;0.927;0.834	B;B;B;B	0.40782	0.247;0.255;0.255;0.34	T	0.50866	-0.8777	10	0.45353	T	0.12	-8.1547	4.0236	0.09677	0.1184:0.0:0.4607:0.4209	.	502;515;573;555	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	538;555;573;555;502	ENSP00000407242:R538H;ENSP00000380625:R555H;ENSP00000324510:R573H;ENSP00000380626:R555H;ENSP00000409533:R502H	ENSP00000324510:R573H	R	+	2	0	BAIAP3	1334481	0.481000	0.25941	0.818000	0.32626	0.847000	0.48162	1.203000	0.32284	0.826000	0.34661	0.491000	0.48974	CGT		0.612	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			129	427	0	0	0	1	0	129	427					A	1394480	G	A	1394480	3	1	79	1	0	0	0	0	1	0	0	0	1305	1145	40	1	1788	1	BAIAP3	16	1394480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87640	1394480	88960273	15839	26156											
BAIAP3	8938	broad.mit.edu	37	chr16	1396176	1396176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctcctccagctctgCgtggtcctcaacaatgtgga	8	16	2	0	rs115798223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000324385.5	+	25	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397488.2_Silent_p.C786C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	804					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16770	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2410-2412)tgC>tgT		BAI1-associated protein 3		C	,,,,	0,4388		0,0,2194	25	28	27		2199,2307,2238,2223,2412	-3	1	16	dbSNP_132	27	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,,,,	733/1117,769/1153,746/1130,741/1125,804/1188	1396176	1,12985	2194	4299	6493	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396176C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2412C>T	16.37:g.1396176C>T						BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000568887.1_Silent_p.C741C	p.C804C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			25	2570	+		Hepatocellular(780;0.0893)	804					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.2412C>T	CCDS10434.1																																																																																				0.711	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			23	169	0	0	0	1	0	23	169					T	1396176	C	T	1396176	2	4	79	1	0	0	0	0	0	0	0	1	1305	776	27	1		1	BAIAP3	16	1396176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1696	1396176	88958577	15840	26157											
BAIAP3	8938	broad.mit.edu	37	chr16	1397298	1397298	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctttccctgccccaGgccctggtcagttttttcca	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000324385.5	+	29	3014		c.e29-1		BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGCCCCAGGCCCTGGTCA	0.647																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e29-1		BAI1-associated protein 3							40	39	39					16																	1397298		2198	4299	6497	SO:0001630	splice_region_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397298G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2857-1G>T	16.37:g.1397298G>T						BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site		NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			29	3014	+		Hepatocellular(780;0.0893)						A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	SNP	ENST00000324385.5	37		CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037427	0.35989	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9418	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1337299	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	2.661000	0.46758	2.367000	0.80283	0.561000	0.74099	.		0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		Intron	9	140	1	0	4.68919e-08	1	4.88816e-08	9	140					T	1397298	G	T	1397298	5	4	79	1	0	0	0	0	0	0	1	0	1305	1014	35	3	2970	3	BAIAP3	16	1397298	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1122	1397298	88957455	15841	26158											
BAIAP3	8938	broad.mit.edu	37	chr16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctctttccactggtccGcagccagaggacccaggtga	11	14	1	2	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000324385.5	+	32	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14079	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(3190-3192)cGc>cAc		BAI1-associated protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	61	66	64		2978,3086,3017,3002,3191	2.8	1	16	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	29,29,29,29,29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	993/1117,1029/1153,1006/1130,1001/1125,1064/1188	1397955	2,12994	2198	4300	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397955G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3191G>A	16.37:g.1397955G>A	ENSP00000324510:p.Arg1064His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H	p.R1064H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			32	3349	+		Hepatocellular(780;0.0893)	1064			C2 2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3191G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212959	0.39102	0.0	2.33E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.75	2.77	0.32553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	N	0.000693	T	0.42291	0.1196	N	0.10685	0.025	0.38294	D	0.942807	B;B;B;B	0.18310	0.027;0.027;0.027;0.027	B;B;B;B	0.14578	0.003;0.006;0.011;0.006	T	0.28839	-1.0031	10	0.56958	D	0.05	-24.6693	7.0705	0.25175	0.2877:0.0:0.7123:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1029;1046;1064;1046;993	ENSP00000407242:R1029H;ENSP00000380625:R1046H;ENSP00000324510:R1064H;ENSP00000380626:R1046H;ENSP00000409533:R993H	ENSP00000324510:R1064H	R	+	2	0	BAIAP3	1337956	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.847000	0.27696	0.421000	0.25980	0.561000	0.74099	CGC		0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			126	593	0	0	0	1	0	126	593					A	1397955	G	A	1397955	3	1	79	1	0	0	0	0	1	0	0	0	1305	1087	38	1	3317	1	BAIAP3	16	1397955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	657	1397955	88956798	15842	26159											
BAIAP3	8938	broad.mit.edu	37	chr16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaggcgtgccgccgccGcgcggcctgtgtgttgttca	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000324385.5	+	33	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1095	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(3283-3285)cGc>cAc		BAI1-associated protein 3							25	26	26					16																	1398126		2192	4293	6485	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1398126G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3284G>A	16.37:g.1398126G>A	ENSP00000324510:p.Arg1095His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H	p.R1095H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			33	3442	+		Hepatocellular(780;0.0893)	1095			C2 2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3284G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942314	0.53079	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.64;-0.62	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.070764	0.53938	D	0.000056	T	0.76033	0.3931	L	0.46885	1.475	0.41808	D	0.989951	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;D;D;D	0.68483	0.891;0.958;0.958;0.958	T	0.77281	-0.2646	10	0.59425	D	0.04	-11.4728	8.7969	0.34885	0.1047:0.0:0.8953:0.0	.	1024;1037;1095;1077	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1060;1077;1095;1077;1024	ENSP00000407242:R1060H;ENSP00000380625:R1077H;ENSP00000324510:R1095H;ENSP00000380626:R1077H;ENSP00000409533:R1024H	ENSP00000324510:R1095H	R	+	2	0	BAIAP3	1338127	0.966000	0.33281	0.804000	0.32291	0.073000	0.16967	3.136000	0.50554	2.117000	0.64856	0.561000	0.74099	CGC		0.701	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			13	256	0	0	0	1	0	13	256					A	1398126	G	A	1398126	3	1	79	1	0	0	0	0	1	0	0	0	1305	1087	38	1	3414	1	BAIAP3	16	1398126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171	1398126	88956627	15843	26160											
CLCN7	1186	broad.mit.edu	37	chr16	1502883	1502883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcacctgcaggcagggcCggtggatgtacctggaacca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	ENST00000382745.4	-	15	1831	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGCAGGGCCGGTGGATGTA	0.662																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1225-1227)cGg>cAg		chloride channel, voltage-sensitive 7							15	14	14					16																	1502883		2166	4280	6446	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1502883C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1226G>A	16.37:g.1502883C>T	ENSP00000372193:p.Arg409Gln					CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q|CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q	p.R409Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			15	1831	-		Hepatocellular(780;0.0893)	409					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1226G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919562	0.52653	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94232	-3.38;-3.38	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	L	0.39633	1.23	0.80722	D	1	B;P	0.50710	0.09;0.938	B;B	0.36092	0.069;0.217	D	0.87485	0.2423	10	0.22109	T	0.4	-33.6187	17.1754	0.86840	0.0:1.0:0.0:0.0	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	Q	385;362;409;351	ENSP00000410907:R385Q;ENSP00000372193:R409Q	ENSP00000262318:R362Q	R	-	2	0	CLCN7	1442884	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.125000	0.77193	2.404000	0.81709	0.561000	0.74099	CGG		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		12	40	0	0	0	1	0	12	40					T	1502883	C	T	1502883	3	4	79	1	0	0	0	0	1	0	0	0	3477	652	23	1	1235	1	CLCN7	16	1502883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104757	1502883	88851870	15844	26161											
CLCN7	1186	broad.mit.edu	37	chr16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacggacaggatcacaccgGacactttgatcaccaacgtc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(694-696)tCc>tTc		chloride channel, voltage-sensitive 7							87	77	81					16																	1507738		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507738G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.695C>T	16.37:g.1507738G>A	ENSP00000372193:p.Ser232Phe					CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F|CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F	p.S232F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			8	1300	-		Hepatocellular(780;0.0893)	232					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.695C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335237	0.24253	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93811	-3.29;-3.29	5.39	4.41	0.53225	Chloride channel, core (2);	0.290406	0.40064	N	0.001198	T	0.72020	0.3409	N	0.00226	-1.805	0.38954	D	0.958401	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71234	-0.4653	10	0.24483	T	0.36	-21.299	6.9991	0.24799	0.1016:0.2644:0.634:0.0	.	208;232	E9PDB9;P51798	.;CLCN7_HUMAN	F	208;185;232;174	ENSP00000410907:S208F;ENSP00000372193:S232F	ENSP00000262318:S185F	S	-	2	0	CLCN7	1447739	0.882000	0.30256	0.966000	0.40874	0.836000	0.47400	1.519000	0.35888	2.521000	0.84997	0.561000	0.74099	TCC		0.607	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		74	338	0	0	0	1	0	74	338					A	1507738	G	A	1507738	3	1	79	1	0	0	0	0	1	0	0	0	3477	1174	41	2	1794	2	CLCN7	16	1507738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4855	1507738	88847015	15845	26162											
CLCN7	1186	broad.mit.edu	37	chr16	1509188	1509188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgccagcagccaccgGctgaaagaggggaagcacgg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e7-1		chloride channel, voltage-sensitive 7							34	36	35					16																	1509188		2197	4300	6497	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1509188G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.595-1C>T	16.37:g.1509188G>A						CLCN7_ENST00000448525.1_Splice_Site_p.P175_splice|CLCN7_ENST00000262318.8_Splice_Site_p.P175_splice	p.P199_splice	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			7	1200	-		Hepatocellular(780;0.0893)	199					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Splice_Site	SNP	ENST00000382745.4	37	c.594_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224290	0.79576	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82984	-1.67;-1.67	4.67	4.67	0.58626	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.93486	0.6831	10	0.87932	D	0	-20.5361	11.72	0.51677	0.0:0.0:0.8233:0.1767	.	175;199	E9PDB9;P51798	.;CLCN7_HUMAN	S	175;152;199;141	ENSP00000410907:P175S;ENSP00000372193:P199S	ENSP00000262318:P152S	P	-	1	0	CLCN7	1449189	1.000000	0.71417	0.689000	0.30133	0.060000	0.15804	6.343000	0.72986	2.314000	0.78098	0.655000	0.94253	CCG		0.657	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation	32	139	0	0	0	1	0	32	139					A	1509188	G	A	1509188	5	1	79	1	0	0	0	0	0	0	1	0	3477	1217	42	2	1898	2	CLCN7	16	1509188	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1450	1509188	88845565	15846	26163											
PTX4	390667	broad.mit.edu	37	chr16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctgcctgaggctggaGgctcccgcctcccttggaga	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L			Q96A99	PTX4_HUMAN	pentraxin 4, long	236						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(706-708)cCt>cTt		pentraxin 4, long							28	34	32					16																	1537406		2199	4297	6496	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537406G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.707C>T	16.37:g.1537406G>A	ENSP00000445277:p.Pro236Leu					PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L	p.P236L			Q96A99	PTX4_HUMAN			2	732	-			236						Missense_Mutation	SNP	ENST00000447419.2	37	c.707C>T		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431251	0.43122	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05199	3.62;3.48	5.15	-0.739	0.11120	.	3.081050	0.00877	N	0.002089	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	D	0.58970	0.984	P	0.55161	0.77	T	0.19224	-1.0312	10	0.25751	T	0.34	.	2.4394	0.04490	0.1607:0.2717:0.4279:0.1397	.	231	Q96A99-2	.	L	236;231	ENSP00000445277:P236L;ENSP00000293922:P231L	ENSP00000293922:P231L	P	-	2	0	PTX4	1477407	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.241000	0.09681	-0.165000	0.13383	CCT		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		66	286	0	0	0	1	0	66	286					A	1537406	G	A	1537406	3	1	79	1	0	0	0	0	1	0	0	0	12873	1000	35	2	736	2	PTX4	16	1537406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28218	1537406	88817347	15847	26164											
PTX4	390667	broad.mit.edu	37	chr16	1538395	1538395	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgtccgtggaccccgCgtgggagtccgggaggccgt	18	12	0	0	rs559417572		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1538395C>T	ENST00000447419.2	-	1	167				PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R25H			Q96A99	PTX4_HUMAN	pentraxin 4, long							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTGGACCCCGCGTGGGAGTCC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16116	0.0		0.0	False		,,,				2504	0.0					ENST00000293922.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(73-75)cGc>cAc		pentraxin 4, long							61	56	58					16																	1538395		2199	4300	6499	SO:0001627	intron_variant	390667					extracellular region	metal ion binding	g.chr16:1538395C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.141+374G>A	16.37:g.1538395C>T						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000447419.2_Intron	p.R25H	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN			1	73	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	10.80	1.452200	0.26074	.	.	ENSG00000251692	ENST00000293922	T	0.06933	3.24	2.56	-2.54	0.06307	.	209.819000	0.00166	N	0.000000	T	0.07052	0.0179	.	.	.	0.09310	N	1	D	0.52996	0.957	B	0.38500	0.275	T	0.39482	-0.9612	9	0.87932	D	0	.	6.5526	0.22442	0.0:0.3279:0.5471:0.125	.	25	Q96A99-2	.	H	25	ENSP00000293922:R25H	ENSP00000293922:R25H	R	-	2	0	PTX4	1478396	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.680000	0.05197	-0.538000	0.06281	0.563000	0.77884	CGC		0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		13	360	0	0	0	1	0	13	360					T	1538395	C	T	1538395	1	4	79	0	1	0	0	0	0	0	0	0	12873	768	27	1		1	PTX4	16	1538395	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	1538395	88816358	15848	26165											
TELO2	9894	broad.mit.edu	37	chr16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgcgggtgacggcGcctcggaggcggggtgaggg	21	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	450					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1348-1350)Gcc>Acc		telomere maintenance 2							29	28	28					16																	1551487		2195	4295	6490	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1551487G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1348G>A	16.37:g.1551487G>A	ENSP00000262319:p.Ala450Thr						p.A450T	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			10	1627	+		Hepatocellular(780;0.219)	450					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1348G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	g	8.776	0.927147	0.18056	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.83992	-1.79	5.27	-5.6	0.02497	.	1.112770	0.06593	N	0.752326	T	0.55909	0.1950	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47394	-0.9121	10	0.13108	T	0.6	-6.8133	0.4389	0.00483	0.2154:0.1788:0.2547:0.351	.	450	Q9Y4R8	TELO2_HUMAN	T	64;450	ENSP00000262319:A450T	ENSP00000262319:A450T	A	+	1	0	TELO2	1491488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-1.029000	0.03317	-0.142000	0.14014	GCC		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		38	114	0	0	0	1	0	38	114					A	1551487	G	A	1551487	3	1	79	1	0	0	0	0	1	0	0	0	15809	1087	38	1	1382	1	TELO2	16	1551487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13092	1551487	88803266	15849	26166											
IFT140	9742	broad.mit.edu	37	chr16	1573949	1573949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagctggtcgtccagGccgttctcctgcagggaggg	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000426508.2	-	25	3513	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_ENST00000361339.5_Silent_p.G244G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1050					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTCGTCCAGGCCGTTCTCCT	0.662																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3148-3150)ggC>ggT		intraflagellar transport 140 homolog (Chlamydomonas)							54	48	50					16																	1573949		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1573949G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3150C>T	16.37:g.1573949G>A						IFT140_ENST00000361339.5_Silent_p.G244G	p.G1050G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			25	3513	-		Hepatocellular(780;0.219)	1050					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3150C>T	CCDS10439.1																																																																																				0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		46	160	0	0	0	1	0	46	160					A	1573949	G	A	1573949	2	1	79	1	0	0	0	0	0	0	0	1	7586	1190	42	2		2	IFT140	16	1573949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22462	1573949	88780804	15850	26167											
IFT140	9742	broad.mit.edu	37	chr16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccccggggctgcccaGgaagtctggtactttcctcc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	358					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTGCCCAGGAAGTCTGGT	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1072-1074)Ctg>Atg		intraflagellar transport 140 homolog (Chlamydomonas)							111	99	103					16																	1636214		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1636214G>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1072C>A	16.37:g.1636214G>T	ENSP00000406012:p.Leu358Met					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.L358M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			10	1435	-		Hepatocellular(780;0.219)	358					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1072C>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58506	0.33	5.13	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);	1.556770	0.03386	N	0.201114	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.29353	0.101	T	0.45556	-0.9253	10	0.33141	T	0.24	.	14.1787	0.65559	0.0:0.2861:0.7139:0.0	.	358	Q96RY7	IF140_HUMAN	M	358	ENSP00000406012:L358M	ENSP00000380562:L358M	L	-	1	2	IFT140	1576215	0.197000	0.23362	0.001000	0.08648	0.003000	0.03518	2.310000	0.43708	0.496000	0.27904	0.591000	0.81541	CTG		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		97	449	1	0	1.46924e-35	1	1.75473e-35	97	449					T	1636214	G	T	1636214	3	4	79	1	0	0	0	0	1	0	0	0	7586	991	35	3	3404	3	IFT140	16	1636214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62265	1636214	88718539	15851	26168											
CRAMP1L	57585	broad.mit.edu	37	chr16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacaagaatgcaacaaAgctgaatgaactcattcagg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	268						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AATGCAACAAAGCTGAATGAA	0.363																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(802-804)aAg>aCg		Crm, cramped-like (Drosophila)							134	134	134					16																	1691164		1866	4114	5980	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1691164A>C	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.803A>C	16.37:g.1691164A>C	ENSP00000380559:p.Lys268Thr					LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T	p.K268T			Q96RY5	CRML_HUMAN			6	902	+			268					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.803A>C	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	T	0.76421	0.3985	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.79485	-0.1784	9	0.87932	D	0	-21.7209	15.5282	0.75928	1.0:0.0:0.0:0.0	.	268	Q96RY5	CRML_HUMAN	T	268;268;265	.	ENSP00000293925:K268T	K	+	2	0	CRAMP1L	1631165	1.000000	0.71417	0.967000	0.41034	0.582000	0.36321	8.836000	0.92105	2.076000	0.62316	0.459000	0.35465	AAG		0.363	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	289	0	0	0	1	0	9	289					C	1691164	A	C	1691164	3	2	79	1	0	0	0	0	1	0	0	0	3855	72	3	4	821	4	CRAMP1L	16	1691164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54950	1691164	88663589	15852	26169											
CRAMP1L	57585	broad.mit.edu	37	chr16	1705257	1705257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgaaaggtctccagcctcAtcgaattcttgaagcagaag	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1705257A>G	ENST00000397412.3	+	9	1174	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_5'Flank			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	359						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCAGCCTCATCGAATTCTT	0.532																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1075-1077)Atc>Gtc		Crm, cramped-like (Drosophila)							113	115	115					16																	1705257		2042	4176	6218	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1705257A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1075A>G	16.37:g.1705257A>G	ENSP00000380559:p.Ile359Val					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V	p.I359V			Q96RY5	CRML_HUMAN			9	1174	+			359					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1075A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354142	0.82243	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.60455	1.87	0.80722	D	1	P	0.38597	0.639	B	0.33890	0.172	T	0.59573	-0.7429	9	0.72032	D	0.01	-27.0427	13.1975	0.59746	0.8676:0.1324:0.0:0.0	.	359	Q96RY5	CRML_HUMAN	V	359;359;356	.	ENSP00000293925:I359V	I	+	1	0	CRAMP1L	1645258	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.344000	0.79328	2.228000	0.72767	0.533000	0.62120	ATC		0.532	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	325	0	0	0	1	0	9	325					G	1705257	A	G	1705257	3	3	79	1	0	0	0	0	1	0	0	0	3855	217	8	4	1105	4	CRAMP1L	16	1705257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14093	1705257	88649496	15853	26170											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtcaaggagctcatgCcgctggtggtgaacgtgctg	17	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	57					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(169-171)Ccg>Tcg		mitogen-activated protein kinase 8 interacting protein 3							69	66	67					16																	1756509		2199	4300	6499	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1756509C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.169C>T	16.37:g.1756509C>T	ENSP00000250894:p.Pro57Ser					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			1	326	+			57					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.169C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319823	0.81469	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73152	-0.72;-0.72	3.52	3.52	0.40303	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	D	0.89170	0.3536	10	0.87932	D	0	-23.6301	14.8211	0.70074	0.0:1.0:0.0:0.0	.	57;57;57;57	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	S	57	ENSP00000250894:P57S;ENSP00000348290:P57S	ENSP00000250894:P57S	P	+	1	0	MAPK8IP3	1696510	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.319000	0.79040	1.790000	0.52503	0.185000	0.17295	CCG		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		47	154	0	0	0	1	0	47	154					T	1756509	C	T	1756509	3	4	79	1	0	0	0	0	1	0	0	0	9327	739	26	2	171	2	MAPK8IP3	16	1756509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51252	1756509	88598244	15854	26171											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgtcaaaggccgtgtgCtggtggctctggcggacggg	19	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1013					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3037-3039)Ctg>Atg		mitogen-activated protein kinase 8 interacting protein 3							53	60	57					16																	1816924		2100	4210	6310	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816924C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3037C>A	16.37:g.1816924C>A	ENSP00000250894:p.Leu1013Met					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	p.L1013M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			25	3194	+			1013					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3037C>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921714	0.73213	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38887	1.11;1.11	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.176079	0.38436	N	0.001696	T	0.64702	0.2622	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.989;0.993;0.998	T	0.71115	-0.4686	10	0.72032	D	0.01	-15.1615	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1014;1007;1013	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	1013;1007	ENSP00000250894:L1013M;ENSP00000348290:L1007M	ENSP00000250894:L1013M	L	+	1	2	MAPK8IP3	1756925	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.686000	0.54685	1.976000	0.57569	0.591000	0.81541	CTG		0.697	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		84	432	1	0	3.04226e-33	1	3.60366e-33	84	432					A	1816924	C	A	1816924	3	1	79	1	0	0	0	0	1	0	0	0	9327	796	28	3	3151	3	MAPK8IP3	16	1816924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60415	1816924	88537829	15855	26172											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccctccagatggccagTgggatctgagcaactatcac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1032					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3094-3096)Tgg>Cgg		mitogen-activated protein kinase 8 interacting protein 3							89	102	98					16																	1817158		2122	4236	6358	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817158T>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3094T>C	16.37:g.1817158T>C	ENSP00000250894:p.Trp1032Arg					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	p.W1032R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			26	3251	+			1032					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3094T>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231571	0.79688	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63744	-0.06;-0.06	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.91635	0.983;0.999;0.998	D	0.84928	0.0858	10	0.87932	D	0	-12.7884	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1033;1026;1032	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	1032;1026	ENSP00000250894:W1032R;ENSP00000348290:W1026R	ENSP00000250894:W1032R	W	+	1	0	MAPK8IP3	1757159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TGG		0.622	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		151	623	0	0	0	1	0	151	623					C	1817158	T	C	1817158	3	2	79	1	0	0	0	0	1	0	0	0	9327	1696	59	4	3212	4	MAPK8IP3	16	1817158	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	1817158	88537595	15856	26173											
MRPS34	65993	broad.mit.edu	37	chr16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacattcagcatgggctcCtcggtgcttgtgtctccatt	10	12	2	0	rs368249423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000397375.2	-	3	596	c.561G>T	c.(559-561)gaG>gaT	p.E187D	EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E194D	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	187						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592																																						ENST00000177742.3																			0				breast(1)|skin(2)	3						c.(580-582)gaG>gaT		mitochondrial ribosomal protein S34							122	101	108					16																	1822318		2196	4299	6495	SO:0001583	missense	65993					mitochondrion|ribosome	protein binding	g.chr16:1822318C>A	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.561G>T	16.37:g.1822318C>A	ENSP00000380531:p.Glu187Asp					MRPS34_ENST00000397375.2_Missense_Mutation_p.E187D	p.E194D			P82930	RT34_HUMAN			3	612	-			187					Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	c.582G>T	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.846007	0.16963	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.35236	1.32;1.32	4.31	2.18	0.27775	.	0.734279	0.13004	N	0.421381	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.13710	-1.0499	10	0.38643	T	0.18	-24.4263	3.2935	0.06957	0.3427:0.4531:0.0:0.2042	.	194;187	C9JJ19;P82930	.;RT34_HUMAN	D	187;194	ENSP00000380531:E187D;ENSP00000177742:E194D	ENSP00000177742:E194D	E	-	3	2	MRPS34	1762319	0.999000	0.42202	0.928000	0.36995	0.025000	0.11179	0.828000	0.27435	0.812000	0.34326	-0.258000	0.10820	GAG		0.592	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936		98	440	1	0	1.37074e-43	1	1.67417e-43	98	440					A	1822318	C	A	1822318	3	1	79	1	0	0	0	0	1	0	0	0	9884	680	24	3	99	3	MRPS34	16	1822318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5160	1822318	88532435	15857	26174											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	593						8	593	---	---	---	---	-	1824300	TGC	-	1824298	7	5	79	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-7651-01A-11D-2154-08	1980	1824298	88530455	15858	26175											
EME2	197342	broad.mit.edu	37	chr16	1825702	1825702	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgcgtgatgccaaggCtgaaggggggcaggatcacc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1825702C>A	ENST00000568449.1	+	6	800				EME2_ENST00000307394.7_Missense_Mutation_p.L317M|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GATGCCAAGGCTGAAGGGGGG	0.607								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(949-951)Ctg>Atg	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							73	73	73					16																	1825702		2198	4300	6498	SO:0001627	intron_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825702C>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.779+17C>A	16.37:g.1825702C>A						EME2_ENST00000568449.1_Intron	p.L317M			A4GXA9	EME2_HUMAN			6	949	+			266					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.949C>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688038	0.29962	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.9	-2.1	0.07210	.	2.683260	0.02107	N	0.054434	T	0.22513	0.0543	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09335	-1.0679	6	0.34782	T	0.22	5.8205	1.4373	0.02346	0.1275:0.3574:0.1738:0.3412	.	.	.	.	M	317;273	.	ENSP00000303779:L317M	L	+	1	2	EME2	1765703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-0.202000	0.10268	-0.221000	0.12465	CTG		0.607	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		68	409	1	0	9.4991e-31	1	1.11549e-30	68	409					A	1825702	C	A	1825702	1	1	79	0	1	0	0	0	0	0	0	0	5107	796	28	3		3	EME2	16	1825702	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1404	1825702	88529051	15859	26176											
SPSB3	90864	broad.mit.edu	37	chr16	1827164	1827164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctggggtgggcggaggtCgctgcctggggatcggacac	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(1000-1002)gcG>gcA		splA/ryanodine receptor domain and SOCS box containing 3							37	37	37					16																	1827164		2197	4291	6488	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1827164C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.1002G>A	16.37:g.1827164C>T						SPSB3_ENST00000301717.4_Silent_p.A334A	p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			7	1332	-			334					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.1002G>A	CCDS32365.1																																																																																				0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		33	408	0	0	0	1	0	33	408					T	1827164	C	T	1827164	2	4	79	1	0	0	0	0	0	0	0	1	15166	871	31	1		1	SPSB3	16	1827164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	1827164	88527589	15860	26177											
SPSB3	90864	broad.mit.edu	37	chr16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacctatacacttcctgttCttgaaaaaggtgagtgtgcc	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(703-705)aaG>aaT		splA/ryanodine receptor domain and SOCS box containing 3							76	71	73					16																	1827764		2199	4300	6499	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1827764C>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.705G>T	16.37:g.1827764C>A	ENSP00000457206:p.Lys235Asn					SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			6	1035	-			235			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.705G>T	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779810	0.31502	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69806	-0.43	4.09	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.58354	1.805	0.48395	D	0.999647	D	0.89917	1.0	D	0.83275	0.996	T	0.73665	-0.3911	10	0.62326	D	0.03	-18.758	5.8281	0.18564	0.0:0.6901:0.0:0.3099	.	235	Q6PJ21	SPSB3_HUMAN	N	235;39	ENSP00000301717:K235N	ENSP00000301717:K235N	K	-	3	2	SPSB3	1767765	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	1.369000	0.34227	1.821000	0.53095	0.561000	0.74099	AAG		0.617	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		51	216	1	0	4.0306e-16	1	4.4197e-16	51	216					A	1827764	C	A	1827764	3	1	79	1	0	0	0	0	1	0	0	0	15166	912	32	3	370	3	SPSB3	16	1827764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	1827764	88526989	15861	26178											
SPSB3	90864	broad.mit.edu	37	chr16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgtcctcatccctgcCcagcaggctgcagaacgtgt	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	187	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(559-561)Ggc>Agc		splA/ryanodine receptor domain and SOCS box containing 3							57	57	57					16																	1827983		2197	4300	6497	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1827983C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.559G>A	16.37:g.1827983C>T	ENSP00000457206:p.Gly187Ser					SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			5	889	-			187			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.559G>A	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937168	0.92458	.	.	ENSG00000162032	ENST00000301717	D	0.86562	-2.14	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.94771	3.58	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95015	0.8155	10	0.87932	D	0	-31.5361	10.1509	0.42794	0.0:0.8992:0.0:0.1008	.	187	Q6PJ21	SPSB3_HUMAN	S	187	ENSP00000301717:G187S	ENSP00000301717:G187S	G	-	1	0	SPSB3	1767984	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.487000	0.66863	1.918000	0.55548	0.561000	0.74099	GGC		0.697	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		46	260	0	0	0	1	0	46	260					T	1827983	C	T	1827983	3	4	79	1	0	0	0	0	1	0	0	0	15166	623	22	2	520	2	SPSB3	16	1827983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	1827983	88526770	15862	26179											
IGFALS	3483	broad.mit.edu	37	chr16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagccagctgccggatgCggttgtggcccagctgcagc	15	14	1	0	rs200009743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000215539.3	-	2	1084	c.974G>A	c.(973-975)cGc>cAc	p.R325H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R363H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	325					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1087-1089)cGc>cAc		insulin-like growth factor binding protein, acid labile subunit							27	30	29					16																	1841445		2197	4298	6495	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841445C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.974G>A	16.37:g.1841445C>T	ENSP00000215539:p.Arg325His					IGFALS_ENST00000215539.3_Missense_Mutation_p.R325H	p.R363H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1167	-			325					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.1088G>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412083	0.25465	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58210	0.35;0.35	5.37	3.02	0.34903	.	0.313999	0.31612	N	0.007360	T	0.59810	0.2221	L	0.58969	1.84	0.23950	N	0.996374	P;D	0.89917	0.768;1.0	B;D	0.70935	0.215;0.971	T	0.49123	-0.8972	10	0.15066	T	0.55	.	7.5217	0.27633	0.0:0.6865:0.1539:0.1596	.	363;325	E9PGU3;P35858	.;ALS_HUMAN	H	325;363	ENSP00000215539:R325H;ENSP00000416683:R363H	ENSP00000215539:R325H	R	-	2	0	IGFALS	1781446	0.933000	0.31639	0.851000	0.33527	0.523000	0.34469	1.883000	0.39658	1.238000	0.43771	0.561000	0.74099	CGC		0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			28	132	0	0	0	1	0	28	132					T	1841445	C	T	1841445	3	4	79	1	0	0	0	0	1	0	0	0	7607	768	27	1	847	1	IGFALS	16	1841445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13462	1841445	88513308	15863	26180											
HAGH	3029	broad.mit.edu	37	chr16	1866938	1866938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcggcattgccgggctCcacgtggcgtgcaaacttga	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000397356.3	-	7	1109	c.703G>A	c.(703-705)Gag>Aag	p.E235K	HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*|HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	235					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000455446.2																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(592-594)tgG>tgA		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						101	84	90					16																	1866938		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1866938C>T	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.703G>A	16.37:g.1866938C>T	ENSP00000380514:p.Glu235Lys					HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K|HAGH_ENST00000397356.3_Missense_Mutation_p.E235K	p.W198*			Q16775	GLO2_HUMAN			6	640	-		Hepatocellular(780;0.00335)	0					A8K290|B4DP33|B4DRA7|E7EN93	Nonsense_Mutation	SNP	ENST00000397356.3	37	c.594G>A	CCDS10447.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.675775|5.675775	0.96764|0.96764	.|.	.|.	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.96041|.	-3.89;-3.89|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87305|.	0.6144|.	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.989|.	D|.	0.91263|.	0.5038|.	10|.	0.87932|0.72032	D|D	0|0.01	-1.0464|-1.0464	17.2325|17.2325	0.86988|0.86988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35956038|rs35956038	187;235|.	Q16775-2;Q16775|.	.;GLO2_HUMAN|.	K|X	235;187|198	ENSP00000380514:E235K;ENSP00000380511:E187K|.	ENSP00000380511:E187K|ENSP00000406552:W198X	E|W	-|-	1|3	0|0	HAGH|HAGH	1806939|1806939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.442000|7.442000	0.80503|0.80503	2.313000|2.313000	0.78055|0.78055	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		35	179	0	0	0	1	0	35	179					T	1866938	C	T	1866938	3	4	79	1	0	0	0	0	1	0	0	0	6975	864	30	2	235	2	HAGH	16	1866938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25493	1866938	88487815	15864	26181											
FAHD1	81889	broad.mit.edu	37	chr16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcagggagatgcgcaGcgcggtgttgagcgagcccg	17	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000427358.2	+	1	113	c.107G>T	c.(106-108)aGc>aTc	p.S36I	HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397356.3_5'Flank|FAHD1_ENST00000382666.4_Missense_Mutation_p.S36I|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|HAGH_ENST00000397353.2_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	36						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647																																						ENST00000382666.4																			0				NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						c.(106-108)aGc>aTc		fumarylacetoacetate hydrolase domain containing 1							65	48	54					16																	1877337		2199	4300	6499	SO:0001583	missense	81889					mitochondrion	hydrolase activity|metal ion binding|protein binding	g.chr16:1877337G>T	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.107G>T	16.37:g.1877337G>T	ENSP00000398053:p.Ser36Ile					FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|FAHD1_ENST00000427358.2_Missense_Mutation_p.S36I	p.S36I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN			1	370	+			36					B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	ENST00000427358.2	37	c.107G>T	CCDS10448.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633616	0.67015	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.111145	0.64402	D	0.000012	T	0.30198	0.0757	L	0.28400	0.85	0.39297	D	0.964838	B;B;B	0.30973	0.108;0.302;0.131	B;B;B	0.29663	0.037;0.105;0.063	T	0.25710	-1.0124	10	0.62326	D	0.03	.	10.0609	0.42275	0.0932:0.0:0.9068:0.0	.	36;36;36	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	36	ENSP00000372114:S36I;ENSP00000372112:S36I;ENSP00000398053:S36I	ENSP00000372112:S36I	S	+	2	0	FAHD1	1817338	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	5.125000	0.64715	2.458000	0.83093	0.655000	0.94253	AGC		0.647	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	NM_001018104		55	239	1	0	1.86277e-20	1	2.08787e-20	55	239					T	1877337	G	T	1877337	3	4	79	1	0	0	0	0	1	0	0	0	5393	971	34	3	109	3	FAHD1	16	1877337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10399	1877337	88477416	15865	26182											
C16orf73	254528	broad.mit.edu	37	chr16	1903110	1903110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaatttgtcaaaattTattcttacatctgaggcaaa	5	7	3	1	rs370304721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1903110T>C	ENST00000397344.3	-	9	902	c.708A>G	c.(706-708)atA>atG	p.I236M	MEIOB_ENST00000470044.1_Missense_Mutation_p.I29M|MEIOB_ENST00000452149.2_Missense_Mutation_p.I236M|MEIOB_ENST00000325962.3_Missense_Mutation_p.I236M|MEIOB_ENST00000412554.2_Missense_Mutation_p.I236M	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	236					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										TGTCAAAATTTATTCTTACAT	0.303																																						ENST00000412554.2																			0											c.(706-708)atA>atG		meiosis specific with OB domains		T	MET/ILE,MET/ILE	0,4396		0,0,2198	55	53	54		708,708	5.8	1	16		54	1,8593		0,1,4296	no	missense,missense	C16orf73	NM_001163560.2,NM_152764.2	10,10	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	236/472,236/443	1903110	1,12989	2198	4297	6495	SO:0001583	missense	254528							g.chr16:1903110T>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.708A>G	16.37:g.1903110T>C	ENSP00000380504:p.Ile236Met					MEIOB_ENST00000452149.2_Missense_Mutation_p.I236M|MEIOB_ENST00000397344.3_Missense_Mutation_p.I236M|MEIOB_ENST00000325962.3_Missense_Mutation_p.I236M|MEIOB_ENST00000470044.1_Missense_Mutation_p.I29M	p.I236M	NM_001163560.2	NP_001157032.1					9	902	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.708A>G	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006293	0.35415	0.0	1.16E-4	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.78	5.78	0.91487	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.106857	0.64402	D	0.000008	T	0.18467	0.0443	L	0.55103	1.725	0.39720	D	0.971455	P;D	0.54601	0.51;0.967	B;P	0.53593	0.228;0.73	T	0.01537	-1.1330	10	0.54805	T	0.06	.	7.8313	0.29344	0.1358:0.0:0.1416:0.7226	.	236;236	C9J0S1;Q8N635	.;CP073_HUMAN	M	236	ENSP00000390778:I236M;ENSP00000391033:I236M;ENSP00000314484:I236M;ENSP00000380504:I236M	ENSP00000314484:I236M	I	-	3	3	C16orf73	1843111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.485000	0.22324	2.204000	0.70986	0.528000	0.53228	ATA		0.303	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		36	139	0	0	0	1	0	36	139					C	1903110	T	C	1903110	3	2	79	1	0	0	0	0	1	0	0	0	1837	1744	61	4	731	4	C16orf73	16	1903110	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25773	1903110	88451643	15866	26183											
RPL3L	6123	broad.mit.edu	37	chr16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccagcactgccaacctttCtcagcgtaatgacccgcttc	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1042-1044)aGa>aTa		ribosomal protein L3-like							139	119	126					16																	1995840		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995840C>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1043G>T	16.37:g.1995840C>A	ENSP00000268661:p.Arg348Ile						p.R348I	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			8	1137	-			348						Missense_Mutation	SNP	ENST00000268661.7	37	c.1043G>T	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	RPL3L	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA		0.627	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		100	405	1	0	8.05857e-52	1	1.00114e-51	100	405					A	1995840	C	A	1995840	3	1	79	1	0	0	0	0	1	0	0	0	13644	913	32	3	192	3	RPL3L	16	1995840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92730	1995840	88358913	15867	26184											
RPL3L	6123	broad.mit.edu	37	chr16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaatgcaggccaccttgCgcaggcccttatgggtcttc	11	15	1	0	rs149043671	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.001					ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(745-747)cGc>cAc		ribosomal protein L3-like		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55	58	57		746	4	1	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1997042C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.746G>A	16.37:g.1997042C>T	ENSP00000268661:p.Arg249His						p.R249H	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	840	-			249						Missense_Mutation	SNP	ENST00000268661.7	37	c.746G>A	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC		0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		27	508	0	0	0	1	0	27	508					T	1997042	C	T	1997042	3	4	79	1	0	0	0	0	1	0	0	0	13644	768	27	1	497	1	RPL3L	16	1997042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1202	1997042	88357711	15868	26185											
GFER	2671	broad.mit.edu	37	chr16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacaatgaagtgaaccGcaagctgggcaagcctgact	11	12	0	3	rs199541169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607																																						ENST00000248114.6																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(535-537)cGc>cAc		growth factor, augmenter of liver regeneration		G	HIS/ARG	0,4396		0,0,2198	94	90	91		536	1.1	1	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035947G>A	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"ERV1 homolog (S. cerevisiae)"	600924	"growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.536G>A	16.37:g.2035947G>A	ENSP00000248114:p.Arg179His					AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|GFER_ENST00000569451.1_3'UTR	p.R179H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN			3	542	+			179			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.536G>A	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC		0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		66	616	0	0	0	1	0	66	616					A	2035947	G	A	2035947	3	1	79	1	0	0	0	0	1	0	0	0	6367	1087	38	1	546	1	GFER	16	2035947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38905	2035947	88318806	15869	26186											
GFER	2671	broad.mit.edu	37	chr16	2035969	2035969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgggcaagcctgacttCgactgctcaaaagtggatga	12	9	1	2	rs142220504	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	AGCCTGACTTCGACTGCTCAA	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21734	0.0		0.0	False		,,,				2504	0.0					ENST00000248114.6																			1	Substitution - coding silent(1)	p.F186F(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(3)	5						c.(556-558)ttC>ttT		growth factor, augmenter of liver regeneration							92	86	88					16																	2035969		2198	4300	6498	SO:0001819	synonymous_variant	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035969C>T	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"ERV1 homolog (S. cerevisiae)"	600924	"growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.558C>T	16.37:g.2035969C>T						AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR	p.F186F	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN			3	564	+			186			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Silent	SNP	ENST00000248114.6	37	c.558C>T	CCDS32368.1																																																																																				0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		114	521	0	0	0	1	0	114	521					T	2035969	C	T	2035969	2	4	79	1	0	0	0	0	0	0	0	1	6367	883	31	1		1	GFER	16	2035969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	2035969	88318784	15870	26187											
SYNGR3	9143	broad.mit.edu	37	chr16	2042719	2042719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccagggccggccacgacGcaggcgggggacgcggcgcg	21	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000248121.2	+	3	578	c.420G>A	c.(418-420)acG>acA	p.T140T	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R52H	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721																																						ENST00000562045.1																			0				endometrium(1)|lung(2)	3						c.(154-156)cGc>cAc		synaptogyrin 3							14	15	15					16																	2042719		2175	4262	6437	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042719G>A	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.420G>A	16.37:g.2042719G>A						SYNGR3_ENST00000248121.2_Silent_p.T140T	p.R52H			O43761	SNG3_HUMAN			2	1171	+			0			MARVEL.		B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.155G>A	CCDS10456.1																																																																																				0.721	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			23	103	0	0	0	1	0	23	103					A	2042719	G	A	2042719	2	1	79	1	0	0	0	0	0	0	0	1	15502	1074	38	1		1	SYNGR3	16	2042719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6750	2042719	88312034	15871	26188											
SYNGR3	9143	broad.mit.edu	37	chr16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaccccggctatccggTgggcagcggcgtggagggca	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	198					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(592-594)gTg>gCg		synaptogyrin 3							23	22	22					16																	2042976		2193	4294	6487	SO:0001583	missense	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042976T>C	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.593T>C	16.37:g.2042976T>C	ENSP00000248121:p.Val198Ala					SYNGR3_ENST00000562045.1_3'UTR	p.V198A	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			4	751	+			198					B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.593T>C	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	t	2.597	-0.293785	0.05568	.	.	ENSG00000127561	ENST00000248121	T	0.12984	2.63	3.63	2.48	0.30137	.	0.367084	0.27442	N	0.019357	T	0.05502	0.0145	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.16896	T	0.51	.	3.3863	0.07273	0.0:0.3591:0.0:0.6409	.	198	O43761	SNG3_HUMAN	A	198	ENSP00000248121:V198A	ENSP00000248121:V198A	V	+	2	0	SYNGR3	1982977	0.982000	0.34865	0.994000	0.49952	0.865000	0.49528	2.578000	0.46051	1.512000	0.48834	0.379000	0.24179	GTG		0.692	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			28	133	0	0	0	1	0	28	133					C	2042976	T	C	2042976	3	2	79	1	0	0	0	0	1	0	0	0	15502	1696	59	4	607	4	SYNGR3	16	2042976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	2042976	88311777	15872	26189											
ZNF598	90850	broad.mit.edu	37	chr16	2048484	2048484	+	Missense_Mutation	SNP	C	C	T													caggagctcctgctgcttggCcgtgtcgggcagcaggacca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	ENST00000563630.1	-	12	2541	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T|ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	822							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGC	0.582																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2299-2301)Gcc>Acc		zinc finger protein 598							29	32	31					16																	2048484		1905	4128	6033	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2048484C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2299G>A	16.37:g.2048484C>T	ENSP00000455882:p.Ala767Thr					ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T	p.A767T			Q86UK7	ZN598_HUMAN			12	2541	-			822					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.2299G>A		.	.	.	.	.	.	.	.	.	.	.	11.10	1.539123	0.27475	.	.	ENSG00000167962	ENST00000431526	T	0.17854	2.25	4.77	2.83	0.33086	.	0.412070	0.28322	N	0.015774	T	0.11196	0.0273	L	0.28458	0.855	0.24512	N	0.994204	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.004	T	0.31308	-0.9948	10	0.17832	T	0.49	-19.0865	9.7555	0.40500	0.0:0.8338:0.0:0.1662	.	822;814	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	822	ENSP00000411409:A822T	ENSP00000411409:A822T	A	-	1	0	ZNF598	1988485	0.466000	0.25823	0.920000	0.36463	0.778000	0.44026	1.064000	0.30579	0.625000	0.30304	0.462000	0.41574	GCC		0.582	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		67	230	0	0	0	1	0	67	230					T	2048484	C	T	2048484	3	4	79	1	0	0	0	0	1	0	0	0	18081	739	26	2	254	2	ZNF598	16	2048484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5508	2048484	88306269	15873	26190	162	2									
ZNF598	90850	broad.mit.edu	37	chr16	2048485	2048485	+	Silent	SNP	C	C	T													aggagctcctgctgcttggcCgtgtcgggcagcaggaccag					rs557029560		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	ENST00000563630.1	-	12	2540	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.T821T|ZNF598_ENST00000562103.1_Silent_p.T766T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	821							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTGCTTGGCCGTGTCGGGCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.001					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2296-2298)acG>acA		zinc finger protein 598							28	32	31					16																	2048485		1905	4128	6033	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2048485C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2298G>A	16.37:g.2048485C>T						ZNF598_ENST00000562103.1_Silent_p.T766T|ZNF598_ENST00000431526.1_Silent_p.T821T	p.T766T			Q86UK7	ZN598_HUMAN			12	2540	-			821					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.2298G>A																																																																																					0.582	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		65	230	0	0	0	1	0	65	230					T	2048485	C	T	2048485	2	4	79	1	0	0	0	0	0	0	0	1	18081	639	23	1		1	ZNF598	16	2048485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	2048485	88306268	15874	26191	162	2									
ZNF598	90850	broad.mit.edu	37	chr16	2049591	2049591	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggaccccaggggccttggGagcccagggggttccttggg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.L653L|ZNF598_ENST00000562103.1_Silent_p.L598L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	653	Pro-rich.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1792-1794)ctC>ctT		zinc finger protein 598							11	14	13					16																	2049591		1715	3872	5587	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049591G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1794C>T	16.37:g.2049591G>A						ZNF598_ENST00000562103.1_Silent_p.L598L|ZNF598_ENST00000431526.1_Silent_p.L653L	p.L598L			Q86UK7	ZN598_HUMAN			9	2036	-			653			Pro-rich.		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1794C>T																																																																																					0.731	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		30	129	0	0	0	1	0	30	129					A	2049591	G	A	2049591	2	1	79	1	0	0	0	0	0	0	0	1	18081	1161	41	2		2	ZNF598	16	2049591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1106	2049591	88305162	15875	26192											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgagtcaacaagcgcgCgccacagatggactggaaca	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V|NTHL1_ENST00000562951.1_5'Flank	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	322					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(964-966)gCg>gTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							43	53	50					16																	2087936		2116	4212	6328	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087936C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.965C>T	16.37:g.2087936C>T	ENSP00000408005:p.Ala322Val					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V	p.A322V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			7	1103	+			322					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.965C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.55760	0.5;1.09	5.09	5.09	0.68999	EBP50, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.949;0.994	T	0.71968	-0.4432	10	0.59425	D	0.04	-11.734	17.4642	0.87628	0.0:1.0:0.0:0.0	.	357;311;322	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	322;311	ENSP00000408005:A322V;ENSP00000402857:A311V	ENSP00000408005:A322V	A	+	2	0	SLC9A3R2	2027937	1.000000	0.71417	0.939000	0.37840	0.365000	0.29674	7.125000	0.77193	2.377000	0.81083	0.491000	0.48974	GCG		0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			17	94	0	0	0	1	0	17	94					T	2087936	C	T	2087936	3	4	79	1	0	0	0	0	1	0	0	0	14765	768	27	1	991	1	SLC9A3R2	16	2087936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38345	2087936	88266817	15876	26193											
NTHL1	7249	broad.mit.edu	37	chr16	2094713	2094713	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaccgtcaggccccgcGcccgcagtcgctgcatggcg	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2094713G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.A156V|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGCCCCGCGCCCGCAGTCG	0.642			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"E, O"					0				lung(1)	1						c.(466-468)gCg>gTg	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							45	35	39					16																	2094713		2197	4297	6494	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2094713G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094713G>A	Exception_encountered						p.A156V	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			3	485	-			156					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.467C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120132	0.37436	.	.	ENSG00000065057	ENST00000219066	D	0.86865	-2.18	5.44	3.27	0.37495	HhH-GPD domain (2);DNA glycosylase (2);	0.492803	0.20963	N	0.082536	D	0.85448	0.5699	M	0.88181	2.935	0.09310	N	1	B;B	0.29936	0.262;0.262	B;B	0.25405	0.06;0.06	T	0.76214	-0.3041	10	0.34782	T	0.22	-13.851	4.9055	0.13797	0.0828:0.1067:0.5665:0.244	.	156;156	E5KTI5;P78549	.;NTHL1_HUMAN	V	156	ENSP00000219066:A156V	ENSP00000219066:A156V	A	-	2	0	NTHL1	2034714	0.957000	0.32711	0.901000	0.35422	0.932000	0.56968	2.873000	0.48475	1.300000	0.44818	0.561000	0.74099	GCG		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		44	172	0	0	0	1	0	44	172					A	2094713	G	A	2094713	1	1	79	0	1	0	0	0	0	0	0	0	10740	1087	38	1		1	NTHL1	16	2094713	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6777	2094713	88260040	15877	26194											
NTHL1	7249	broad.mit.edu	37	chr16	2096182	2096182	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccccagatggtccacagGtgcatcctttttgttcctca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2096182G>T	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.P109T|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000401874.2_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000350773.4_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTCCACAGGTGCATCCTTT	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"E, O"					0				lung(1)	1						c.(325-327)Cct>Act	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							141	120	127					16																	2096182		2198	4300	6498	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2096182G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096182G>T	Exception_encountered						p.P109T	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			2	343	-			109					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.325C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171863	0.38315	.	.	ENSG00000065057	ENST00000219066	D	0.92545	-3.06	4.83	4.83	0.62350	DNA glycosylase (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	D	0.98474	1.0602	10	0.72032	D	0.01	-8.9083	16.4958	0.84242	0.0:0.0:1.0:0.0	.	109;109	E5KTI5;P78549	.;NTHL1_HUMAN	T	109	ENSP00000219066:P109T	ENSP00000219066:P109T	P	-	1	0	NTHL1	2036183	1.000000	0.71417	0.916000	0.36221	0.266000	0.26442	8.801000	0.91905	2.230000	0.72887	0.561000	0.74099	CCT		0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		10	694	1	0	0.000442599	1	0.000448314	10	694					T	2096182	G	T	2096182	1	4	79	0	1	0	0	0	0	0	0	0	10740	1261	44	3		3	NTHL1	16	2096182	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	2096182	88258571	15878	26195											
TSC2	7249	broad.mit.edu	37	chr16	2112582	2112582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattcagaacctgcaggcgCtgatggagagattcttcagg	14	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000568454.1_Silent_p.L459L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	448					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1342-1344)Ctg>Ttg		tuberous sclerosis 2							45	44	44					16																	2112582		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2112582C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1342C>T	16.37:g.2112582C>T						TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000568454.1_Silent_p.L459L	p.L448L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			13	1972	+		Hepatocellular(780;0.0202)	448					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.1342C>T	CCDS10458.1																																																																																				0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	59	0	0	0	1	0	12	59					T	2112582	C	T	2112582	2	4	79	1	0	0	0	0	0	0	0	1	16659	796	28	2		2	TSC2	16	2112582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16400	2112582	88242171	15879	26196											
TSC2	7249	broad.mit.edu	37	chr16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctacaccctgccaatcgCgagcagcatccggctgcagg	11	16	0	0	rs397515296|rs137854119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T. {ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM090848	TSC2	M		c.(1819-1821)gCg>gTg		tuberous sclerosis 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	68	51	57		1820,1820,1820	5.5	1	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	64,64,64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	607/1808,607/1741,607/1785	2120560	1,12995	2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2120560C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1820C>T	16.37:g.2120560C>T	ENSP00000219476:p.Ala607Val					TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V	p.A607V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			17	2450	+		Hepatocellular(780;0.0202)	607		A -> T.			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1820C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770716	0.69992	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.89022	0.6597	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.936;0.981;0.98;0.999;0.995	D	0.86560	0.1840	10	0.27785	T	0.31	-33.4261	19.4153	0.94694	0.0:1.0:0.0:0.0	.	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	607;607;607;570;558;607	ENSP00000219476:A607V;ENSP00000384468:A607V;ENSP00000248099:A607V;ENSP00000399232:A570V;ENSP00000371978:A558V;ENSP00000344383:A607V	ENSP00000219476:A607V	A	+	2	0	TSC2	2060561	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.946000	0.70234	2.595000	0.87683	0.561000	0.74099	GCG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		70	286	0	0	0	1	0	70	286					T	2120560	C	T	2120560	3	4	79	1	0	0	0	0	1	0	0	0	16659	768	27	1	1882	1	TSC2	16	2120560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7978	2120560	88234193	15880	26197											
TSC2	7249	broad.mit.edu	37	chr16	2124212	2124212	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctgcagcgcgagatggtCtactgcctggagcagggcct	14	13	1	1	rs137854061|rs397515224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000439673.2_Silent_p.V752V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	789					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2365-2367)gtC>gtA		tuberous sclerosis 2							71	57	62					16																	2124212		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2124212C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2367C>A	16.37:g.2124212C>A						TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V	p.V789V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			22	2997	+		Hepatocellular(780;0.0202)	789					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.2367C>A	CCDS10458.1																																																																																				0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		41	197	1	0	1.02687e-29	1	1.20094e-29	41	197					A	2124212	C	A	2124212	2	1	79	1	0	0	0	0	0	0	0	1	16659	900	32	3		3	TSC2	16	2124212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3652	2124212	88230541	15881	26198											
TSC2	7249	broad.mit.edu	37	chr16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctccctgtcttctaggtCtcctgtgggcgagttcctcc	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1045					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3133-3135)tCt>tTt		tuberous sclerosis 2							91	77	82					16																	2129279		2197	4300	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2129279C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3134C>T	16.37:g.2129279C>T	ENSP00000219476:p.Ser1045Phe					TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000568366.1_3'UTR	p.S1045F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			28	3764	+		Hepatocellular(780;0.0202)	1045					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3134C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695163	0.68386	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.91996	-2.87;-2.88;-2.95;-2.93;-2.84	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D	0.91635	0.986;0.999;0.994;0.999;0.988;0.982	D	0.94960	0.8107	10	0.40728	T	0.16	-24.1477	18.0348	0.89296	0.0:1.0:0.0:0.0	.	953;965;1045;1001;1001;1045	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	1045;1002;1002;965;953;1045	ENSP00000219476:S1045F;ENSP00000248099:S1002F;ENSP00000399232:S965F;ENSP00000371978:S953F;ENSP00000344383:S1045F	ENSP00000219476:S1045F	S	+	2	0	TSC2	2069280	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	5.798000	0.69095	2.339000	0.79563	0.561000	0.74099	TCT		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		87	362	0	0	0	1	0	87	362					T	2129279	C	T	2129279	3	4	79	1	0	0	0	0	1	0	0	0	16659	913	32	2	3240	2	TSC2	16	2129279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5067	2129279	88225474	15882	26199											
TSC2	7249	broad.mit.edu	37	chr16	2130198	2130198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagttggcgccctggacGtgccggcctcccagttcctg	13	15	0	0	rs45517294	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130198G>A	ENST00000219476.3	+	30	4060	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1144			V -> M (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCCCTGGACGTGCCGGCCTC	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM983889	TSC2	M	rs45517294	c.(3430-3432)Gtg>Atg		tuberous sclerosis 2		G	MET/VAL,MET/VAL,MET/VAL	1,4395	2.1+/-5.4	0,1,2197	100	106	104	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3430,3298,3430	-9.5	0	16	dbSNP_127	104	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	21,21,21	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	1144/1808,1100/1741,1144/1785	2130198	2,12990	2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130198G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3430G>A	16.37:g.2130198G>A	ENSP00000219476:p.Val1144Met					TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M	p.V1144M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4060	+		Hepatocellular(780;0.0202)	1144		V -> M (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3430G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788889	0.31685	2.27E-4	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89050	-2.38;-2.37;-2.46;-2.41;-2.38	4.74	-9.47	0.00594	.	1.939910	0.02201	N	0.062319	T	0.74989	0.3789	N	0.08118	0	0.09310	N	1	B;B;P;B;B;P	0.43024	0.029;0.049;0.485;0.049;0.086;0.798	B;B;B;B;B;B	0.38803	0.008;0.018;0.282;0.018;0.013;0.089	T	0.75150	-0.3419	10	0.48119	T	0.1	0.0994	10.1082	0.42546	0.6815:0.172:0.1466:0.0	.	1052;1064;1144;1100;1100;1144	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	1144;1101;1101;1064;1052;1144	ENSP00000219476:V1144M;ENSP00000248099:V1101M;ENSP00000399232:V1064M;ENSP00000371978:V1052M;ENSP00000344383:V1144M	ENSP00000219476:V1144M	V	+	1	0	TSC2	2070199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	-2.326000	0.00637	-1.186000	0.01703	GTG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		17	1075	0	0	0	1	0	17	1075					A	2130198	G	A	2130198	3	1	79	1	0	0	0	0	1	0	0	0	16659	1145	40	1	3544	1	TSC2	16	2130198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	919	2130198	88224555	15883	26200											
TSC2	7249	broad.mit.edu	37	chr16	2130329	2130329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaacctggcggcctatgtGcccctgctgacccagggctg	13	15	0	1	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000568454.1_Silent_p.V1154V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000439673.2_Silent_p.V1107V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1187					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3559-3561)gtG>gtA		tuberous sclerosis 2							48	54	52					16																	2130329		2198	4298	6496	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130329G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3561G>A	16.37:g.2130329G>A						TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000568454.1_Silent_p.V1154V	p.V1187V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4191	+		Hepatocellular(780;0.0202)	1187					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.3561G>A	CCDS10458.1																																																																																				0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		103	451	0	0	0	1	0	103	451					A	2130329	G	A	2130329	2	1	79	1	0	0	0	0	0	0	0	1	16659	1306	46	2		2	TSC2	16	2130329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	2130329	88224424	15884	26201											
TSC2	7249	broad.mit.edu	37	chr16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtctccagccaggaGgagaagtcgctccacgcgga	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1343					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4027-4029)gaG>gaT		tuberous sclerosis 2							24	21	22					16																	2134252		2187	4292	6479	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134252G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4029G>T	16.37:g.2134252G>T	ENSP00000219476:p.Glu1343Asp					TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D	p.E1343D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			34	4659	+		Hepatocellular(780;0.0202)	1343					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4029G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175842	0.09443	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.90261	-2.46;-2.56;-2.48;-2.64;-2.6;-2.57	4.86	-0.0207	0.13955	.	0.262292	0.36665	N	0.002468	T	0.75939	0.3918	N	0.12746	0.255	0.34610	D	0.717498	B;B;B;B;B;B;B	0.23735	0.004;0.008;0.008;0.09;0.008;0.008;0.003	B;B;B;B;B;B;B	0.22386	0.008;0.019;0.019;0.039;0.019;0.019;0.004	T	0.64529	-0.6386	10	0.15499	T	0.54	-29.8903	6.3064	0.21141	0.3882:0.0:0.4925:0.1193	.	1228;1240;1320;118;1299;1276;1343	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1343;1277;1300;1240;1228;1320	ENSP00000219476:E1343D;ENSP00000384468:E1277D;ENSP00000248099:E1300D;ENSP00000399232:E1240D;ENSP00000371978:E1228D;ENSP00000344383:E1320D	ENSP00000219476:E1343D	E	+	3	2	TSC2	2074253	0.924000	0.31332	0.999000	0.59377	0.684000	0.39900	0.003000	0.13083	0.122000	0.18314	-0.221000	0.12465	GAG		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		25	63	1	0	1.85244e-09	1	1.95034e-09	25	63					T	2134252	G	T	2134252	3	4	79	1	0	0	0	0	1	0	0	0	16659	991	35	3	4159	3	TSC2	16	2134252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3923	2134252	88220501	15885	26202											
TSC2	7249	broad.mit.edu	37	chr16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgaaggactgccagccgGacaaggtgtacctgggaggc	16	10	0	1	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1590	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4768-4770)Gac>Aac		tuberous sclerosis 2							121	95	104					16																	2136299		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2136299G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4768G>A	16.37:g.2136299G>A	ENSP00000219476:p.Asp1590Asn					TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N	p.D1590N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5398	+		Hepatocellular(780;0.0202)	1590			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4768G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851442	0.71719	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	4.47	3.51	0.40186	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	N	0.04959	-0.14	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;0.999;0.998;0.213;0.998;0.998;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.996;0.997;0.345;0.997;0.997;0.998	D	0.88000	0.2755	10	0.11794	T	0.64	-24.0776	13.8775	0.63662	0.0:0.0:0.8464:0.1536	.	1475;1487;1567;365;1546;1523;1590	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1590;1524;1547;1487;1475;1567	ENSP00000219476:D1590N;ENSP00000248099:D1547N;ENSP00000399232:D1487N;ENSP00000371978:D1475N;ENSP00000344383:D1567N	ENSP00000219476:D1590N	D	+	1	0	TSC2	2076300	1.000000	0.71417	0.819000	0.32651	0.706000	0.40770	7.741000	0.84997	1.077000	0.40990	0.561000	0.74099	GAC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		59	222	0	0	0	1	0	59	222					A	2136299	G	A	2136299	3	1	79	1	0	0	0	0	1	0	0	0	16659	1174	41	2	4910	2	TSC2	16	2136299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2047	2136299	88218454	15886	26203											
PKD1	5310	broad.mit.edu	37	chr16	2143020	2143020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctttgcagacggtaggcGtgcccatggcatgaggcatc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11089-11091)caC>caT		polycystic kidney disease 1 (autosomal dominant)							107	107	107					16																	2143020		2198	4299	6497	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143020G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11091C>T	16.37:g.2143020G>A						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	p.H3697H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			38	11299	-			3697					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11091C>T	CCDS32369.1																																																																																				0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			33	845	0	0	0	1	0	33	845					A	2143020	G	A	2143020	2	1	79	1	0	0	0	0	0	0	0	1	12005	1136	40	1		1	PKD1	16	2143020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	2143020	88211733	15887	26204											
PKD1	5310	broad.mit.edu	37	chr16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactcttcatctgtccaaCaaaggcctgctgagaggtgc	10	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3393					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10177-10179)Gtt>Att		polycystic kidney disease 1 (autosomal dominant)							91	101	97					16																	2147772		2198	4300	6498	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147772C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10177G>A	16.37:g.2147772C>T	ENSP00000262304:p.Val3393Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	p.V3393I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			32	10385	-			3393					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10177G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601532	0.13939	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.4	4.44	-1.98	0.07480	.	0.805808	0.11217	N	0.587105	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P;B	0.35226	0.491;0.128	B;B	0.27076	0.076;0.05	T	0.16541	-1.0399	10	0.34782	T	0.22	.	6.1194	0.20144	0.5948:0.2285:0.0:0.1767	.	3392;3393	P98161-3;P98161	.;PKD1_HUMAN	I	3393;3392;2727	ENSP00000262304:V3393I;ENSP00000399501:V3392I	ENSP00000262304:V3393I	V	-	1	0	PKD1	2087773	0.134000	0.22483	0.047000	0.18901	0.004000	0.04260	0.088000	0.14979	-0.109000	0.12044	-0.300000	0.09419	GTT		0.587	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			176	811	0	0	0	1	0	176	811					T	2147772	C	T	2147772	3	4	79	1	0	0	0	0	1	0	0	0	12005	478	17	2	2794	2	PKD1	16	2147772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4752	2147772	88206981	15888	26205											
PKD1	5310	broad.mit.edu	37	chr16	2147955	2147955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccagcacctgctgccCggcaggtgtggggctcgggc	17	13	0	0	rs556305710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	ENST00000262304.4	-	31	10289	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3361					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGCTGCCCGGCAGGTGTG	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		16616	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10081-10083)Ggg>Agg		polycystic kidney disease 1 (autosomal dominant)							6	7	7					16																	2147955		2077	4122	6199	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147955C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10081G>A	16.37:g.2147955C>T	ENSP00000262304:p.Gly3361Arg					PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	p.G3361R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			31	10289	-			3361					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10081G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159263	0.38119	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	4.29	2.28	0.28536	.	0.251232	0.37955	N	0.001866	T	0.32133	0.0819	M	0.62723	1.935	0.23411	N	0.997732	P;P	0.47841	0.901;0.748	B;B	0.39217	0.294;0.106	T	0.21655	-1.0239	10	0.21014	T	0.42	.	13.3637	0.60671	0.0:0.8516:0.0:0.1484	.	3361;3361	P98161-3;P98161	.;PKD1_HUMAN	R	3361;3361;2696	ENSP00000262304:G3361R;ENSP00000399501:G3361R	ENSP00000262304:G3361R	G	-	1	0	PKD1	2087956	0.768000	0.28519	0.002000	0.10522	0.017000	0.09413	1.389000	0.34453	0.112000	0.17975	-1.164000	0.01763	GGG		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			29	98	0	0	0	1	0	29	98					T	2147955	C	T	2147955	3	4	79	1	0	0	0	0	1	0	0	0	12005	652	23	1	2894	1	PKD1	16	2147955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	2147955	88206798	15889	26206											
PKD1	5310	broad.mit.edu	37	chr16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcggtggccccgggcaGcccagtccgagttgttgggc	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2883					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8647-8649)gCt>gAt		polycystic kidney disease 1 (autosomal dominant)							33	37	36					16																	2153410		2030	3976	6006	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153410G>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8648C>A	16.37:g.2153410G>T	ENSP00000262304:p.Ala2883Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	p.A2883D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8856	-			2883					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8648C>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063084	0.55432	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36520	1.25;1.25	4.65	2.58	0.30949	.	0.440473	0.23298	N	0.049704	T	0.33760	0.0874	M	0.65975	2.015	0.09310	N	1	B;P	0.48911	0.013;0.917	B;P	0.46850	0.014;0.529	T	0.13602	-1.0503	10	0.10902	T	0.67	.	5.5778	0.17233	0.1112:0.2203:0.6685:0.0	.	2883;2883	P98161-3;P98161	.;PKD1_HUMAN	D	2883;2883;2218	ENSP00000262304:A2883D;ENSP00000399501:A2883D	ENSP00000262304:A2883D	A	-	2	0	PKD1	2093411	0.000000	0.05858	0.124000	0.21820	0.088000	0.18126	0.548000	0.23314	1.183000	0.42943	0.555000	0.69702	GCT		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			176	687	1	0	1.10422e-86	1	1.41595e-86	176	687					T	2153410	G	T	2153410	3	4	79	1	0	0	0	0	1	0	0	0	12005	971	34	3	4359	3	PKD1	16	2153410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	2153410	88201343	15890	26207											
PKD1	5310	broad.mit.edu	37	chr16	2153863	2153863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgagggctgtggtgccCgcacgtccgagctggccagg	17	13	1	1	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	ENST00000262304.4	-	23	8403	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2732	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGTGCCCGCACGTCCGA	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		10585	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8194-8196)cGg>cAg		polycystic kidney disease 1 (autosomal dominant)		C	GLN/ARG,GLN/ARG	0,4328		0,0,2164	15	15	15		8195,8195	1.9	0	16	dbSNP_131	15	2,8538		0,2,4268	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	43,43	0,2,6432	TT,TC,CC		0.0234,0.0,0.0155	benign,benign	2732/4303,2732/4304	2153863	2,12866	2164	4270	6434	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153863C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8195G>A	16.37:g.2153863C>T	ENSP00000262304:p.Arg2732Gln					PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q|PKD1_ENST00000561991.1_5'UTR	p.R2732Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8403	-			2732			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8195G>A	CCDS32369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.137	0.393575	0.11638	0.0	2.34E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32272	1.46;1.46	4.41	1.91	0.25777	Egg jelly receptor, REJ-like (1);	0.372642	0.27650	N	0.018440	T	0.04815	0.0130	N	0.00162	-1.95	0.09310	N	1	B;B	0.15719	0.011;0.014	B;B	0.04013	0.001;0.001	T	0.37888	-0.9686	10	0.06757	T	0.87	.	4.7784	0.13190	0.0:0.1667:0.3067:0.5266	.	2732;2732	P98161-3;P98161	.;PKD1_HUMAN	Q	2732;2732;2067;1011	ENSP00000262304:R2732Q;ENSP00000399501:R2732Q	ENSP00000262304:R2732Q	R	-	2	0	PKD1	2093864	0.323000	0.24643	0.022000	0.16811	0.001000	0.01503	0.449000	0.21744	0.211000	0.20683	-0.678000	0.03780	CGG		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			23	96	0	0	0	1	0	23	96					T	2153863	C	T	2153863	3	4	79	1	0	0	0	0	1	0	0	0	12005	652	23	1	4812	1	PKD1	16	2153863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	2153863	88200890	15891	26208											
PKD1	5310	broad.mit.edu	37	chr16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacgagcccccgcacgcGccgcttcaccgtcacattga	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4639-4641)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							43	48	46					16																	2160529		2195	4289	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4847	-			1547			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4639C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			123	460	0	0	0	1	0	123	460					A	2160529	G	A	2160529	3	1	79	1	0	0	0	0	1	0	0	0	12005	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6666	2160529	88194224	15892	26209											
PKD1	5310	broad.mit.edu	37	chr16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccggccaccaggacgCcgtcactcacacccacagcc	10	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1136	PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3406-3408)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							15	17	16					16																	2161761		2172	4287	6459	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161761C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3407G>A	16.37:g.2161761C>T	ENSP00000262304:p.Gly1136Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	p.G1136D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3615	-			1136			PKD 6.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3407G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.145	0.786085	0.16189	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67345	-0.26;-0.26	5.66	-5.54	0.02544	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	1.816110	0.02356	N	0.076399	T	0.39682	0.1087	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.004;0.012	T	0.35773	-0.9775	10	0.12103	T	0.63	.	8.7888	0.34837	0.0:0.1369:0.4152:0.4479	.	1136;1136	P98161-3;P98161	.;PKD1_HUMAN	D	1136;1136;851	ENSP00000262304:G1136D;ENSP00000399501:G1136D	ENSP00000262304:G1136D	G	-	2	0	PKD1	2101762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.110000	0.02992	-0.147000	0.13772	GGC		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			19	75	0	0	0	1	0	19	75					T	2161761	C	T	2161761	3	4	79	1	0	0	0	0	1	0	0	0	12005	739	26	2	9632	2	PKD1	16	2161761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1232	2161761	88192992	15893	26210											
PKD1	5310	broad.mit.edu	37	chr16	2161784	2161784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacacccacagccacGgagggcagggaggcgcgcac	13	16	2	0	rs530066894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.|PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15930	0.0		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3382-3384)tcC>tcT		polycystic kidney disease 1 (autosomal dominant)							18	20	19					16																	2161784		2185	4285	6470	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161784G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3384C>T	16.37:g.2161784G>A						PKD1_ENST00000423118.1_Silent_p.S1128S	p.S1128S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3592	-			1128			PKD 5.|PKD 6.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3384C>T	CCDS32369.1																																																																																				0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			27	88	0	0	0	1	0	27	88					A	2161784	G	A	2161784	2	1	79	1	0	0	0	0	0	0	0	1	12005	1103	39	1		1	PKD1	16	2161784	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2161784	88192969	15894	26211											
PKD1	5310	broad.mit.edu	37	chr16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccagggcagggcagaCattctcaaagcgggcgctga	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	PKD1_ENST00000423118.1_Missense_Mutation_p.V873L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	873	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2617-2619)Gtc>Ctc		polycystic kidney disease 1 (autosomal dominant)							19	16	17					16																	2164407		2179	4276	6455	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164407C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2617G>C	16.37:g.2164407C>G	ENSP00000262304:p.Val873Leu					PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	p.V873L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2825	-			873			PKD 3.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2617G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	5.489	0.275161	0.10403	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.33865	1.39;1.39	4.96	-7.17	0.01511	Polycystin cation channel (1);	0.538685	0.18726	N	0.132895	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.39692	T	0.17	.	4.6711	0.12689	0.1067:0.2556:0.0826:0.5551	.	873;873	P98161-3;P98161	.;PKD1_HUMAN	L	873	ENSP00000262304:V873L;ENSP00000399501:V873L	ENSP00000262304:V873L	V	-	1	0	PKD1	2104408	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-3.652000	0.00403	-0.952000	0.03649	-0.476000	0.04901	GTC		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			39	141	0	0	0	1	0	39	141					G	2164407	C	G	2164407	3	3	79	1	0	0	0	0	1	0	0	0	12005	478	17	5	10438	5	PKD1	16	2164407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2623	2164407	88190346	15895	26212											
PKD1	5310	broad.mit.edu	37	chr16	2164529	2164529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtagaggcggccgtcgCggggggcagggtagatgacc	20	10	0	3	rs565256491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	ENST00000262304.4	-	11	2703	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PKD1_ENST00000423118.1_Missense_Mutation_p.R832H|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	832					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGCCGTCGCGGGGGGCAGG	0.692													c|||	1	0.000199681	0.0	0.0	5008	,	,		14696	0.0		0.0	False		,,,				2504	0.001					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2494-2496)cGc>cAc		polycystic kidney disease 1 (autosomal dominant)							8	7	7					16																	2164529		1648	3207	4855	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164529C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2495G>A	16.37:g.2164529C>T	ENSP00000262304:p.Arg832His					PKD1_ENST00000423118.1_Missense_Mutation_p.R832H	p.R832H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2703	-			832					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2495G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	0.094	-1.162638	0.01673	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.34472	1.36;1.36	5.39	1.4	0.22301	Polycystin cation channel (1);	0.707453	0.14522	N	0.314417	T	0.08492	0.0211	N	0.00347	-1.61	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.35822	-0.9773	10	0.17369	T	0.5	.	6.2873	0.21041	0.37:0.074:0.0:0.556	.	832;832	P98161-3;P98161	.;PKD1_HUMAN	H	832	ENSP00000262304:R832H;ENSP00000399501:R832H	ENSP00000262304:R832H	R	-	2	0	PKD1	2104530	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	0.918000	0.28678	-0.032000	0.13758	-0.255000	0.11280	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			31	109	0	0	0	1	0	31	109					T	2164529	C	T	2164529	3	4	79	1	0	0	0	0	1	0	0	0	12005	768	27	1	10560	1	PKD1	16	2164529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	2164529	88190224	15896	26213											
PKD1	5310	broad.mit.edu	37	chr16	2168027	2168027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagcacatagcgatgCgaggcagccggcccagcggc	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	ENST00000262304.4	-	5	1174	c.966G>A	c.(964-966)tcG>tcA	p.S322S	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.S322S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	322	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCGATGCGAGGCAGCCG	0.701																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(964-966)tcG>tcA		polycystic kidney disease 1 (autosomal dominant)							4	5	5					16																	2168027		1874	3896	5770	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168027C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.966G>A	16.37:g.2168027C>T						PKD1_ENST00000423118.1_Silent_p.S322S	p.S322S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			5	1174	-			322			PKD 1.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.966G>A	CCDS32369.1																																																																																				0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			42	109	0	0	0	1	0	42	109					T	2168027	C	T	2168027	2	4	79	1	0	0	0	0	0	0	0	1	12005	755	27	1		1	PKD1	16	2168027	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	2168027	88186726	15897	26214											
PKD1	5310	broad.mit.edu	37	chr16	2168110	2168110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagggagcggggcagCgatgtggaaggctgctagct	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168110C>T	ENST00000262304.4	-	5	1091	c.883G>A	c.(883-885)Gct>Act	p.A295T	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	295	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGGGCAGCGATGTGGAAG	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(883-885)Gct>Act		polycystic kidney disease 1 (autosomal dominant)							6	8	8					16																	2168110		2039	4114	6153	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168110C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.883G>A	16.37:g.2168110C>T	ENSP00000262304:p.Ala295Thr					PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	p.A295T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			5	1091	-			295			PKD 1.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.883G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.622001	0.00820	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60548	0.18;0.18	4.78	1.04	0.20106	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.664574	0.14722	N	0.302282	T	0.25382	0.0617	N	0.02708	-0.52	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.13407	0.001;0.009	T	0.24083	-1.0170	10	0.07990	T	0.79	.	7.8225	0.29296	0.0:0.3811:0.0:0.6189	.	295;295	P98161-3;P98161	.;PKD1_HUMAN	T	295;295;228	ENSP00000262304:A295T;ENSP00000399501:A295T	ENSP00000262304:A295T	A	-	1	0	PKD1	2108111	0.091000	0.21658	0.000000	0.03702	0.464000	0.32679	0.595000	0.24029	-0.086000	0.12550	0.444000	0.29173	GCT		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			30	116	0	0	0	1	0	30	116					T	2168110	C	T	2168110	3	4	79	1	0	0	0	0	1	0	0	0	12005	768	27	1	12196	1	PKD1	16	2168110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	2168110	88186643	15898	26215											
TRAF7	84231	broad.mit.edu	37	chr16	2223366	2223366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaagctctcggagaagatCgaccagctagagaagagcct	13	9	1	4	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	326					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(976-978)atC>atT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							61	59	59					16																	2223366		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223366C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.978C>T	16.37:g.2223366C>T							p.I326I	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			10	1110	+			326					Q9H073	Silent	SNP	ENST00000326181.6	37	c.978C>T	CCDS10461.1																																																																																				0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		37	223	0	0	0	1	0	37	223					T	2223366	C	T	2223366	2	4	79	1	0	0	0	0	0	0	0	1	16499	874	31	1		1	TRAF7	16	2223366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55256	2223366	88131387	15899	26216											
TRAF7	84231	broad.mit.edu	37	chr16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgtcccacatcaacgCgcggctgaacatgggcatcc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	370					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1108-1110)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							38	37	38					16																	2223811		2197	4298	6495	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223811C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1109C>T	16.37:g.2223811C>T	ENSP00000318944:p.Ala370Val						p.A370V	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			12	1241	+			370					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1109C>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280166	0.80692	.	.	ENSG00000131653	ENST00000326181	T	0.51071	0.72	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.24115	0.695	0.80722	D	1	P	0.48640	0.913	B	0.31390	0.129	T	0.21381	-1.0247	10	0.39692	T	0.17	-20.8037	17.1906	0.86878	0.0:1.0:0.0:0.0	.	370	Q6Q0C0	TRAF7_HUMAN	V	370	ENSP00000318944:A370V	ENSP00000318944:A370V	A	+	2	0	TRAF7	2163812	1.000000	0.71417	0.111000	0.21465	0.848000	0.48234	7.195000	0.77798	2.521000	0.84997	0.655000	0.94253	GCG		0.706	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		46	213	0	0	0	1	0	46	213					T	2223811	C	T	2223811	3	4	79	1	0	0	0	0	1	0	0	0	16499	768	27	1	1151	1	TRAF7	16	2223811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445	2223811	88130942	15900	26217											
CASKIN1	57524	broad.mit.edu	37	chr16	2236773	2236773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggtcattgcccgtcCggttgtcatggatgcagccc	11	16	2	0	rs573154682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236773C>T	ENST00000343516.6	-	10	1075	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATTGCCCGTCCGGTTGTCATG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16794	0.0		0.0	False		,,,				2504	0.0					ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(982-984)cGg>cAg		CASK interacting protein 1							37	41	40					16																	2236773		2024	4155	6179	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236773C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.983G>A	16.37:g.2236773C>T	ENSP00000345436:p.Arg328Gln						p.R328Q	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			10	1075	-			328			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.983G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901262	0.72754	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.16743	2.32	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.08670	0.0215	N	0.01352	-0.895	0.58432	D	0.999999	P	0.51537	0.946	P	0.50490	0.642	T	0.21143	-1.0254	9	0.02654	T	1	-28.9012	16.6164	0.84917	0.0:1.0:0.0:0.0	.	328	Q8WXD9	CSKI1_HUMAN	Q	328;157	ENSP00000345436:R328Q	ENSP00000345436:R328Q	R	-	2	0	CASKIN1	2176774	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.815000	0.38981	2.577000	0.86979	0.563000	0.77884	CGG		0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		81	288	0	0	0	1	0	81	288					T	2236773	C	T	2236773	3	4	79	1	0	0	0	0	1	0	0	0	2673	652	23	1	3356	1	CASKIN1	16	2236773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12962	2236773	88117980	15901	26218											
CASKIN1	57524	broad.mit.edu	37	chr16	2236819	2236819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggccatccggatgctgctCgaggacctggccagtaaggt	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236819C>T	ENST00000343516.6	-	10	1029	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	313	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGATGCTGCTCGAGGACCTGG	0.672																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(937-939)Gag>Aag		CASK interacting protein 1							30	34	32					16																	2236819		2012	4155	6167	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236819C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.937G>A	16.37:g.2236819C>T	ENSP00000345436:p.Glu313Lys						p.E313K	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			10	1029	-			313			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.937G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559699	0.86335	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.19394	2.15	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.38585	0.1046	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14839	-1.0458	9	0.66056	D	0.02	-29.7749	16.6164	0.84917	0.0:1.0:0.0:0.0	.	313	Q8WXD9	CSKI1_HUMAN	K	313;142	ENSP00000345436:E313K	ENSP00000345436:E313K	E	-	1	0	CASKIN1	2176820	1.000000	0.71417	0.955000	0.39395	0.615000	0.37417	7.606000	0.82863	2.577000	0.86979	0.563000	0.77884	GAG		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		53	286	0	0	0	1	0	53	286					T	2236819	C	T	2236819	3	4	79	1	0	0	0	0	1	0	0	0	2673	893	31	1	3402	1	CASKIN1	16	2236819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	2236819	88117934	15902	26219											
CASKIN1	57524	broad.mit.edu	37	chr16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacctcgcaacagctgCttgatctccctgctggcctg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	274					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAACAGCTGCTTGATCTCCC	0.662																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(820-822)aaG>aaT		CASK interacting protein 1							75	77	77					16																	2237180		2146	4253	6399	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2237180C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.822G>T	16.37:g.2237180C>A	ENSP00000345436:p.Lys274Asn						p.K274N	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			8	914	-			274					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.822G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201134	0.58234	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.69561	-0.41	3.69	1.7	0.24286	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.68650	0.3024	L	0.34521	1.04	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.67696	-0.5604	9	0.72032	D	0.01	-22.2528	6.8935	0.24243	0.0:0.6855:0.0:0.3145	.	274	Q8WXD9	CSKI1_HUMAN	N	274;103	ENSP00000345436:K274N	ENSP00000345436:K274N	K	-	3	2	CASKIN1	2177181	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	0.891000	0.36235	0.455000	0.32223	AAG		0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		16	349	1	0	4.14922e-12	1	4.44601e-12	16	349					A	2237180	C	A	2237180	3	1	79	1	0	0	0	0	1	0	0	0	2673	796	28	3	3525	3	CASKIN1	16	2237180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361	2237180	88117573	15903	26220											
CASKIN1	57524	broad.mit.edu	37	chr16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagactcaccccaacgCggccgaactcgcaggccagg	12	16	1	1	rs371614946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	160					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(478-480)cGc>cAc		CASK interacting protein 1		C	HIS/ARG	1,4025		0,1,2012	34	44	41		479	3.5	1	16		41	0,8318		0,0,4159	no	missense	CASKIN1	NM_020764.3	29	0,1,6171	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	160/1432	2239246	1,12343	2013	4159	6172	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239246C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.479G>A	16.37:g.2239246C>T	ENSP00000345436:p.Arg160His						p.R160H	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			5	571	-			160					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.479G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336137	0.60963	2.48E-4	0.0	ENSG00000167971	ENST00000343516	T	0.63417	-0.04	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.54631	0.1870	N	0.01705	-0.755	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.66504	-0.5907	9	0.44086	T	0.13	-11.7501	14.0324	0.64624	0.0:1.0:0.0:0.0	.	160	Q8WXD9	CSKI1_HUMAN	H	160	ENSP00000345436:R160H	ENSP00000345436:R160H	R	-	2	0	CASKIN1	2179247	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	5.790000	0.69038	1.954000	0.56735	0.561000	0.74099	CGC		0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		38	196	0	0	0	1	0	38	196					T	2239246	C	T	2239246	3	4	79	1	0	0	0	0	1	0	0	0	2673	768	27	1	3880	1	CASKIN1	16	2239246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	2239246	88115507	15904	26221											
MLST8	64223	broad.mit.edu	37	chr16	2256400	2256400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccggaccgcagcatgatTgctgctgcaggtatctgtga	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000397124.1_Silent_p.I57I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	57					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(169-171)atT>atC		MTOR associated protein, LST8 homolog (S. cerevisiae)							114	115	115					16																	2256400		2032	4170	6202	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256400T>C		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.171T>C	16.37:g.2256400T>C						MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000397124.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I	p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			3	525	+			57					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.171T>C	CCDS10462.2																																																																																				0.582	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		69	354	0	0	0	1	0	69	354					C	2256400	T	C	2256400	2	2	79	1	0	0	0	0	0	0	0	1	9675	1800	63	4		4	MLST8	16	2256400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17154	2256400	88098353	15905	26222											
C16orf79	283870	broad.mit.edu	37	chr16	2259423	2259423	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctcgggaagcagatgtcGatgcagagataaatcagccg	13	8	1	2	rs561967169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259423G>A	ENST00000562360.1	-	5	722	c.723C>T	c.(721-723)atC>atT	p.I241I	BRICD5_ENST00000328540.3_Silent_p.I209I|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	241						integral component of membrane (GO:0016021)											AGCAGATGTCGATGCAGAGAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(625-627)atC>atT		BRICHOS domain containing 5							63	62	62					16																	2259423		2198	4300	6498	SO:0001819	synonymous_variant	283870							g.chr16:2259423G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.723C>T	16.37:g.2259423G>A						BRICD5_ENST00000562360.1_Silent_p.I241I	p.I209I	NM_182563.3	NP_872369.2					6	1743	-								C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.627C>T	CCDS10463.1																																																																																				0.632	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		48	394	0	0	0	1	0	48	394					A	2259423	G	A	2259423	2	1	79	1	0	0	0	0	0	0	0	1	1841	1048	37	1		1	C16orf79	16	2259423	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3023	2259423	88095330	15906	26223											
C16orf79	283870	broad.mit.edu	37	chr16	2259442	2259442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgcagagataaatcagcCgctgtctccggggccctgtg	13	12	2	1	rs199768716	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259442C>T	ENST00000562360.1	-	5	703	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	BRICD5_ENST00000328540.3_Missense_Mutation_p.R203Q|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	235						integral component of membrane (GO:0016021)											ATAAATCAGCCGCTGTCTCCG	0.637													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17278	0.001		0.0	False		,,,				2504	0.0					ENST00000328540.3																			0											c.(607-609)cGg>cAg		BRICHOS domain containing 5		T	GLN/ARG	0,4396		0,0,2198	55	56	56		608	5	1	16		56	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C16orf79	NM_182563.3	43	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	203/229	2259442	3,12993	2198	4300	6498	SO:0001583	missense	283870							g.chr16:2259442C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.704G>A	16.37:g.2259442C>T	ENSP00000455052:p.Arg235Gln					BRICD5_ENST00000562360.1_Missense_Mutation_p.R235Q	p.R203Q	NM_182563.3	NP_872369.2					6	1724	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.608G>A	CCDS10463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.9	4.221581	0.79464	0.0	3.49E-4	ENSG00000182685	ENST00000328540	T	0.35421	1.31	5.95	5.01	0.66863	.	0.065248	0.64402	N	0.000018	T	0.60996	0.2312	.	.	.	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.91635	0.449;0.999	T	0.65467	-0.6161	9	0.59425	D	0.04	-12.2879	14.1573	0.65426	0.0:0.9276:0.0:0.0724	.	235;203	Q6PL45;Q6PL45-2	CP079_HUMAN;.	Q	203	ENSP00000332389:R203Q	ENSP00000332389:R203Q	R	-	2	0	C16orf79	2199443	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.807000	0.55591	1.539000	0.49286	-0.119000	0.15052	CGG		0.637	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		17	461	0	0	0	1	0	17	461					T	2259442	C	T	2259442	3	4	79	1	0	0	0	0	1	0	0	0	1841	652	23	1	82	1	C16orf79	16	2259442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	2259442	88095311	15907	26224											
PGP	283871	broad.mit.edu	37	chr16	2264199	2264199	+	Silent	SNP	G	G	A													catgttggtgcccacgagcaGgcagccgggctgctgcaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	194					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7																			0				skin(1)	1						c.(580-582)Ctg>Ttg		phosphoglycolate phosphatase							10	12	12					16																	2264199		2049	4163	6212	SO:0001819	synonymous_variant	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2264199G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.580C>T	16.37:g.2264199G>A							p.L194L	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN			1	609	-			194						Silent	SNP	ENST00000333503.7	37	c.580C>T	CCDS42104.1																																																																																				0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		22	92	0	0	0	1	0	22	92					A	2264199	G	A	2264199	2	1	79	1	0	0	0	0	0	0	0	1	11844	991	35	2		2	PGP	16	2264199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4757	2264199	88090554	15908	26225	163	2									
PGP	283871	broad.mit.edu	37	chr16	2264203	2264203	+	Silent	SNP	G	G	A													ttggtgcccacgagcaggcaGccgggctgctgcaggtagcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	192					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7																			0				skin(1)	1						c.(574-576)ggC>ggT		phosphoglycolate phosphatase							10	12	12					16																	2264203		2043	4147	6190	SO:0001819	synonymous_variant	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2264203G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.576C>T	16.37:g.2264203G>A							p.G192G	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN			1	605	-			192						Silent	SNP	ENST00000333503.7	37	c.576C>T	CCDS42104.1																																																																																				0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		16	96	0	0	0	1	0	16	96					A	2264203	G	A	2264203	2	1	79	1	0	0	0	0	0	0	0	1	11844	958	34	2		2	PGP	16	2264203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	2264203	88090550	15909	26226	163	2									
E4F1	1877	broad.mit.edu	37	chr16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcactgtggcccacatcGtggtggaggcggcctctctg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000565090.1_Missense_Mutation_p.V121M|E4F1_ENST00000564139.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592																																						ENST00000301727.4																			1	Substitution - Missense(1)	p.V121L(1)	lung(1)	ovary(1)	1						c.(361-363)Gtg>Atg		E4F transcription factor 1							100	105	104					16																	2279622		2198	4300	6498	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2279622G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.361G>A	16.37:g.2279622G>A	ENSP00000301727:p.Val121Met					E4F1_ENST00000565090.1_Missense_Mutation_p.V121M|E4F1_ENST00000564139.1_Missense_Mutation_p.V121M	p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			3	409	+			121					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.361G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928132	0.52759	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.07908	0.0198	L	0.53249	1.67	0.33903	D	0.638749	P;B;B	0.36315	0.547;0.338;0.174	B;B;B	0.23574	0.047;0.023;0.022	T	0.16394	-1.0404	10	0.72032	D	0.01	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	121	ENSP00000301727:V121M	ENSP00000301727:V121M	V	+	1	0	E4F1	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG		0.592	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		220	792	0	0	0	1	0	220	792					A	2279622	G	A	2279622	3	1	79	1	0	0	0	0	1	0	0	0	4890	1145	40	1	371	1	E4F1	16	2279622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15419	2279622	88075131	15910	26227											
ABCA3	21	broad.mit.edu	37	chr16	2328417	2328417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgacagcaggctctccGatcagggcgatgccggtgct	14	11	2	2	rs375910092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000301732.5	-	30	5290	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_ENST00000382381.3_Silent_p.I1472I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1530	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGCTCTCCGATCAGGGCGA	0.637																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4588-4590)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	72	66	68		4590	-10.8	0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1530/1705	2328417	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2328417G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4590C>T	16.37:g.2328417G>A						ABCA3_ENST00000382381.3_Silent_p.I1472I	p.I1530I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			30	5290	-		Ovarian(90;0.17)	1530			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4590C>T	CCDS10466.1																																																																																				0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		89	356	0	0	0	1	0	89	356					A	2328417	G	A	2328417	2	1	79	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2328417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48795	2328417	88026336	15911	26228											
ABCA3	21	broad.mit.edu	37	chr16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcagcaccaggaacacgtGatccagggttttggaaagtt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000301732.5	-	25	4439	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1247					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGAACACGTGATCCAGGGTT	0.587																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3739-3741)Cac>Tac		ATP-binding cassette, sub-family A (ABC1), member 3							144	137	140					16																	2334403		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334403G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3739C>T	16.37:g.2334403G>A	ENSP00000301732:p.His1247Tyr					ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	p.H1247Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			25	4439	-		Ovarian(90;0.17)	1247					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3739C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835772	0.16820	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86366	-2.11	5.31	2.05	0.26809	.	0.740809	0.13088	N	0.414772	T	0.75391	0.3843	L	0.34521	1.04	0.53005	D	0.99996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.60561	-0.7239	10	0.06494	T	0.89	.	6.4674	0.21990	0.1554:0.0:0.6437:0.2009	.	1251;1247	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1247;1251	ENSP00000301732:H1247Y	ENSP00000301732:H1247Y	H	-	1	0	ABCA3	2274404	1.000000	0.71417	0.267000	0.24556	0.537000	0.34900	5.356000	0.66052	0.642000	0.30620	0.650000	0.86243	CAC		0.587	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		117	513	0	0	0	1	0	117	513					A	2334403	G	A	2334403	3	1	79	1	0	0	0	0	1	0	0	0	33	1290	45	2	1411	2	ABCA3	16	2334403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5986	2334403	88020350	15912	26229											
ABCA3	21	broad.mit.edu	37	chr16	2347331	2347331	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccccaccgctcaccGtatttctgcttgaggaacag	11	14	2	1	rs370268801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	754	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACCGCTCACCGTATTTCTGCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.0					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.e17+1		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	63	51	55		2262	-12.3	0	16		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		754/1705	2347331	1,12995	2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347331G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2263+1C>T	16.37:g.2347331G>A						ABCA3_ENST00000382381.3_Splice_Site_p.Y696_splice	p.Y754_splice	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2962	-		Ovarian(90;0.17)	754			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Splice_Site	SNP	ENST00000301732.5	37	c.2263_splice	CCDS10466.1																																																																																				0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Silent	66	243	0	0	0	1	0	66	243					A	2347331	G	A	2347331	5	1	79	1	0	0	0	0	0	0	1	0	33	1159	40	1	2920	1	ABCA3	16	2347331	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12928	2347331	88007422	15913	26230											
ABCA3	21	broad.mit.edu	37	chr16	2347394	2347394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccccttggccatgatggcGatgcggtctcccagcaggtc	12	15	1	1	rs138901284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000301732.5	-	17	2899	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_ENST00000382381.3_Silent_p.I675I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	733	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCATGATGGCGATGCGGTCTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2197-2199)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	138	102	114		2199	-11.7	0.4	16	dbSNP_134	114	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	ABCA3	NM_001089.2		0,8,6490	AA,AG,GG		0.093,0.0,0.0616		733/1705	2347394	8,12988	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347394G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2199C>T	16.37:g.2347394G>A						ABCA3_ENST00000382381.3_Silent_p.I675I	p.I733I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2899	-		Ovarian(90;0.17)	733			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2199C>T	CCDS10466.1																																																																																				0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		107	462	0	0	0	1	0	107	462					A	2347394	G	A	2347394	2	1	79	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2347394	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	2347394	88007359	15914	26231											
ABCA3	21	broad.mit.edu	37	chr16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaaacactcacctttcGcctcaaatttcccaatgagc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	ENST00000301732.5	-	11	1980	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	427					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)	p.A427V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CTCACCTTTCGCCTCAAATTT	0.557																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.A427V(1)	large_intestine(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1279-1281)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 3							103	86	92					16																	2358456		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2358456G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1280C>T	16.37:g.2358456G>A	ENSP00000301732:p.Ala427Val					ABCA3_ENST00000382381.3_Intron	p.A427V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			11	1980	-		Ovarian(90;0.17)	427					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1280C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	.	.	.	.	.	T	0.61850	0.2380	L	0.53780	1.695	0.80722	D	1	B;B	0.32829	0.386;0.386	B;B	0.22753	0.041;0.041	T	0.56625	-0.7948	9	0.20046	T	0.44	.	8.2688	0.31831	0.0863:0.2912:0.6225:0.0	.	427;427	A7MBM9;Q99758	.;ABCA3_HUMAN	V	427	ENSP00000301732:A427V	ENSP00000301732:A427V	A	-	2	0	ABCA3	2298457	1.000000	0.71417	0.042000	0.18584	0.005000	0.04900	6.126000	0.71635	1.389000	0.46526	0.650000	0.86243	GCG		0.557	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		38	227	0	0	0	1	0	38	227					A	2358456	G	A	2358456	3	1	79	1	0	0	0	0	1	0	0	0	33	1087	38	1	3926	1	ABCA3	16	2358456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11062	2358456	87996297	15915	26232											
CCNF	899	broad.mit.edu	37	chr16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcctctgcgagctcTccctgctgcacaccagcctg	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	438					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1312-1314)Tcc>Ccc		cyclin F							46	45	45					16																	2499376		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2499376T>C	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1312T>C	16.37:g.2499376T>C	ENSP00000380256:p.Ser438Pro						p.S438P	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			12	1400	+		Ovarian(90;0.17)	438					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1312T>C	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435819	0.83885	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27720	1.65	5.43	4.31	0.51392	Cyclin, C-terminal (1);Cyclin-like (3);	0.050440	0.85682	D	0.000000	T	0.57344	0.2047	M	0.89715	3.055	0.52501	D	0.999954	P	0.50066	0.931	P	0.61003	0.882	T	0.62978	-0.6739	10	0.87932	D	0	-28.9433	10.3694	0.44044	0.1518:0.0:0.0:0.8482	.	438	P41002	CCNF_HUMAN	P	438;353	ENSP00000380256:S438P	ENSP00000293968:S353P	S	+	1	0	CCNF	2439377	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.524000	0.60552	0.853000	0.35312	0.460000	0.39030	TCC		0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		73	245	0	0	0	1	0	73	245					C	2499376	T	C	2499376	3	2	79	1	0	0	0	0	1	0	0	0	2931	1551	54	4	1358	4	CCNF	16	2499376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140920	2499376	87855377	15916	26233											
C16orf59	80178	broad.mit.edu	37	chr16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A													atctaggtccattgtcacctCttctggcacgacagcctccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000361837.4	+	4	406	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000569496.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(340-342)tCt>tAt		chromosome 16 open reading frame 59							68	77	74					16																	2510961		2075	4206	6281	SO:0001583	missense	80178							g.chr16:2510961C>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.341C>A	16.37:g.2510961C>A	ENSP00000355022:p.Ser114Tyr					C16orf59_ENST00000361837.4_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y	p.S114Y			Q7L2K0	CP059_HUMAN			4	400	+		Ovarian(90;0.17)	114					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.341C>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720521	0.30503	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	3.12	2.13	0.27403	.	.	.	.	.	T	0.43366	0.1244	L	0.36672	1.1	0.18873	N	0.999989	P	0.47191	0.891	P	0.48227	0.571	T	0.23868	-1.0176	9	0.62326	D	0.03	-0.2078	8.1298	0.31020	0.0:0.7507:0.2493:0.0	.	114	Q7L2K0	CP059_HUMAN	Y	114	ENSP00000355022:S114Y	ENSP00000355022:S114Y	S	+	2	0	C16orf59	2450962	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.034000	0.30204	0.609000	0.30018	0.655000	0.94253	TCT		0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		82	315	1	0	3.73172e-31	1	4.38876e-31	82	315					A	2510961	C	A	2510961	3	1	79	1	0	0	0	0	1	0	0	0	1828	913	32	3	355	3	C16orf59	16	2510961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11585	2510961	87843792	15917	26234	164	2									
C16orf59	80178	broad.mit.edu	37	chr16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T													cattgtcacctcttctggcaCgacagcctccgccccaccgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000361837.4	+	4	415	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000569496.1_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(349-351)aCg>aTg		chromosome 16 open reading frame 59							60	69	66					16																	2510970		2081	4207	6288	SO:0001583	missense	80178							g.chr16:2510970C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.350C>T	16.37:g.2510970C>T	ENSP00000355022:p.Thr117Met					C16orf59_ENST00000361837.4_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M	p.T117M			Q7L2K0	CP059_HUMAN			4	409	+		Ovarian(90;0.17)	117					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.350C>T	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550521	0.45383	.	.	ENSG00000162062	ENST00000361837	T	0.47528	0.84	3.97	-0.205	0.13196	.	0.621363	0.11903	U	0.518417	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	0.999999	P	0.37398	0.593	B	0.27715	0.082	T	0.25012	-1.0144	10	0.72032	D	0.01	-0.6322	3.1424	0.06460	0.1875:0.5022:0.0:0.3103	.	117	Q7L2K0	CP059_HUMAN	M	117	ENSP00000355022:T117M	ENSP00000355022:T117M	T	+	2	0	C16orf59	2450971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	0.004000	0.14682	-0.793000	0.03317	ACG		0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		81	297	0	0	0	1	0	81	297					T	2510970	C	T	2510970	3	4	79	1	0	0	0	0	1	0	0	0	1828	536	19	1	364	1	C16orf59	16	2510970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	2510970	87843783	15918	26235	164	2									
C16orf59	80178	broad.mit.edu	37	chr16	2511088	2511088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccaccctgagcgccgGctgctgtcagtgggggatgg	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000361837.4	+	4	533	c.468G>A	c.(466-468)cgG>cgA	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000483320.1_De_novo_Start_InFrame|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.R156R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697																																						ENST00000483320.1																			0				lung(1)|skin(1)|urinary_tract(1)	3								chromosome 16 open reading frame 59							26	30	29					16																	2511088		1959	4138	6097	SO:0001819	synonymous_variant	80178							g.chr16:2511088G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.468G>A	16.37:g.2511088G>A						C16orf59_ENST00000361837.4_Silent_p.R156R|C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000563531.1_Silent_p.R156R				Q7L2K0	CP059_HUMAN			0	580	+		Ovarian(90;0.17)						B4DXD7|Q96H61|Q9H872	Translation_Start_Site	SNP	ENST00000361837.4	37		CCDS10468.2																																																																																				0.697	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		28	282	0	0	0	1	0	28	282					A	2511088	G	A	2511088	2	1	79	1	0	0	0	0	0	0	0	1	1828	1190	42	2		2	C16orf59	16	2511088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	2511088	87843665	15919	26236											
NTN3	4917	broad.mit.edu	37	chr16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggacatggaggccGtcgtcccttactcctacgca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	239	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(715-717)Gtc>Atc		netrin 3							49	45	46					16																	2522417		2197	4297	6494	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522417G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.715G>A	16.37:g.2522417G>A	ENSP00000293973:p.Val239Ile						p.V239I	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	918	+			239			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.715G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641649	0.03531	.	.	ENSG00000162068	ENST00000293973	T	0.75154	-0.91	3.94	-1.18	0.09617	Laminin, N-terminal (3);	1.578620	0.03511	N	0.219615	T	0.56645	0.1999	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.37606	T	0.19	.	5.5086	0.16868	0.4158:0.2571:0.3271:0.0	.	239	O00634	NET3_HUMAN	I	239	ENSP00000293973:V239I	ENSP00000293973:V239I	V	+	1	0	NTN3	2462418	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.177000	0.03096	-0.993000	0.03467	-4.718000	0.00003	GTC		0.657	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		72	305	0	0	0	1	0	72	305					A	2522417	G	A	2522417	3	1	79	1	0	0	0	0	1	0	0	0	10743	1145	40	1	717	1	NTN3	16	2522417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11329	2522417	87832336	15920	26237											
NTN3	4917	broad.mit.edu	37	chr16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgccgctgccgcttcaAcatggagctgtaccgactgt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(967-969)aAc>aCc		netrin 3							43	52	49					16																	2522741		2158	4249	6407	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522741A>C	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.968A>C	16.37:g.2522741A>C	ENSP00000293973:p.Asn323Thr						p.N323T	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			2	1171	+			323			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000293973.1	37	c.968A>C	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593810	0.46214	.	.	ENSG00000162068	ENST00000293973	T	0.63255	-0.03	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.82220	-0.0565	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	T	323	ENSP00000293973:N323T	ENSP00000293973:N323T	N	+	2	0	NTN3	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC		0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		57	632	0	0	0	1	0	57	632					C	2522741	A	C	2522741	3	2	79	1	0	0	0	0	1	0	0	0	10743	43	2	4	974	4	NTN3	16	2522741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324	2522741	87832012	15921	26238											
NTN3	4917	broad.mit.edu	37	chr16	2523431	2523431	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaccttctacccagaCtgtgactcgcactgcaaacc	5	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	440					axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.e5-1		netrin 3							112	117	115					16																	2523431		2198	4300	6498	SO:0001630	splice_region_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2523431C>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1319-1C>A	16.37:g.2523431C>A							p.D440_splice	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			5	1523	+			440						Splice_Site	SNP	ENST00000293973.1	37	c.1318_splice	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589449	0.03799	.	.	ENSG00000162068	ENST00000293973	T	0.30182	1.54	3.67	1.15	0.20763	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.126926	0.50627	D	0.000104	T	0.13500	0.0327	N	0.19112	0.55	0.52099	D	0.999941	B	0.20780	0.048	B	0.15484	0.013	T	0.19910	-1.0291	10	0.05436	T	0.98	.	7.6096	0.28122	0.0:0.6439:0.0:0.3561	.	440	O00634	NET3_HUMAN	E	440	ENSP00000293973:D440E	ENSP00000293973:D440E	D	+	3	2	NTN3	2463432	0.468000	0.25839	0.953000	0.39169	0.345000	0.29048	0.001000	0.13038	0.547000	0.28938	0.306000	0.20318	GAC		0.622	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181	Missense_Mutation	150	729	1	0	2.98797e-67	1	3.78391e-67	150	729					A	2523431	C	A	2523431	5	1	79	1	0	0	0	0	0	0	1	0	10743	579	20	3	1338	3	NTN3	16	2523431	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	690	2523431	87831322	15922	26239											
TBC1D24	57465	broad.mit.edu	37	chr16	2546886	2546886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaccgcgtggcgctggCcatcctcaagttcttccaca	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2546886C>T	ENST00000293970.5	+	2	870	c.737C>T	c.(736-738)gCc>gTc	p.A246V	TBC1D24_ENST00000567020.1_Missense_Mutation_p.A246V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	246	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTGGCGCTGGCCATCCTCAAG	0.632																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(736-738)gCc>gTc		TBC1 domain family, member 24							54	62	59					16																	2546886		2139	4229	6368	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546886C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.737C>T	16.37:g.2546886C>T	ENSP00000293970:p.Ala246Val					RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A246V	p.A246V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	877	+			246			Rab-GAP TBC.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.737C>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511729	0.64522	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.35605	1.3;1.3	5.24	5.24	0.73138	Rab-GAP/TBC domain (3);	0.052315	0.85682	D	0.000000	T	0.50343	0.1610	M	0.64404	1.975	0.80722	D	1	P;P;P	0.50156	0.857;0.932;0.916	P;P;P	0.53401	0.541;0.725;0.604	T	0.44952	-0.9294	10	0.38643	T	0.18	-32.1815	17.4345	0.87547	0.0:1.0:0.0:0.0	.	246;246;246	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	V	246	ENSP00000293970:A246V;ENSP00000390106:A246V	ENSP00000293970:A246V	A	+	2	0	TBC1D24	2486887	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.833000	0.69349	2.445000	0.82738	0.655000	0.94253	GCC		0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		42	419	0	0	0	1	0	42	419					T	2546886	C	T	2546886	3	4	79	1	0	0	0	0	1	0	0	0	15666	739	26	2	739	2	TBC1D24	16	2546886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23455	2546886	87807867	15923	26240											
ATP6V0C	527	broad.mit.edu	37	chr16	2569231	2569231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacagccctgggcgctgCctatggcacagccaagagcg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2569231C>A	ENST00000330398.4	+	2	326	c.92C>A	c.(91-93)gCc>gAc	p.A31D	AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000565223.1_5'UTR|AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000564973.1_5'UTR|ATP6C_ENST00000569317.1_Intron|RP11-20I23.1_ENST00000564543.1_Nonsense_Mutation_p.C326*|ATP6V0C_ENST00000568562.1_Nonsense_Mutation_p.C13*|AMDHD2_ENST00000293971.6_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	31					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CTGGGCGCTGCCTATGGCACA	0.622																																						ENST00000564543.1																			0											c.(976-978)tgC>tgA									47	34	39					16																	2569231		2198	4300	6498	SO:0001583	missense	0							g.chr16:2569231C>A	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.92C>A	16.37:g.2569231C>A	ENSP00000329757:p.Ala31Asp					ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_5'UTR|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A31D|ATP6V0C_ENST00000568562.1_Nonsense_Mutation_p.C13*|ATP6V0C_ENST00000564973.1_5'UTR	p.C326*							2	1095	+								Q6FH26	Nonsense_Mutation	SNP	ENST00000330398.4	37	c.978C>A	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571982	0.96553	.	.	ENSG00000185883	ENST00000330398	T	0.59772	0.24	4.85	3.89	0.44902	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	H	0.97983	4.12	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.88787	0.3275	10	0.87932	D	0	-8.9343	13.1691	0.59587	0.1611:0.8389:0.0:0.0	.	31	P27449	VATL_HUMAN	D	31	ENSP00000329757:A31D	ENSP00000329757:A31D	A	+	2	0	ATP6V0C	2509232	1.000000	0.71417	0.638000	0.29380	0.527000	0.34593	5.999000	0.70665	1.030000	0.39839	0.556000	0.70494	GCC		0.622	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		41	149	1	0	4.32679e-17	1	4.76816e-17	41	149					A	2569231	C	A	2569231	3	1	79	1	0	0	0	0	1	0	0	0	1173	739	26	3	98	3	ATP6V0C	16	2569231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22345	2569231	87785522	15924	26241											
AMDHD2	51005	broad.mit.edu	37	chr16	2570854	2570854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggccgacgagcggcgGgactgcgggggccgcatctt	19	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000293971.6	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	AMDHD2_ENST00000302956.4_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R|ATP6C_ENST00000569317.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	56					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(166-168)cgG>cgA		amidohydrolase domain containing 2							22	30	27					16																	2570854		2194	4294	6488	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2570854G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.168G>A	16.37:g.2570854G>A						ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R	p.R56R			Q9Y303	NAGA_HUMAN			2	262	+			56					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.168G>A																																																																																					0.697	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		81	306	0	0	0	1	0	81	306					A	2570854	G	A	2570854	2	1	79	1	0	0	0	0	0	0	0	1	568	1219	43	2		2	AMDHD2	16	2570854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1623	2570854	87783899	15925	26242											
CEMP1	752014	broad.mit.edu	37	chr16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctgccttgacggccgCgcaccccttaggaagtggct	11	16	1	1	rs373411042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000567119.1	-	1	506	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T|CEMP1_ENST00000565480.1_Intron	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(172-174)Gcg>Acg		cementum protein 1		C	,THR/ALA	0,4086		0,0,2043	38	46	44		,172	-2.6	0	16		44	1,8349		0,1,4174	no	utr-3,missense	AMDHD2,CEMP1	NM_001145815.1,NM_001048212.3	,58	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,benign	,58/248	2580903	1,12435	2043	4175	6218	SO:0001583	missense	752014					cytoplasm		g.chr16:2580903C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.172G>A	16.37:g.2580903C>T	ENSP00000457380:p.Ala58Thr					CEMP1_ENST00000567119.1_Missense_Mutation_p.A58T|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000413459.3_3'UTR	p.A58T			Q6PRD7	CEMP1_HUMAN			1	517	-			58					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.172G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074199	0.07184	0.0	1.2E-4	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.3	-2.59	0.06209	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	0.87932	D	0	.	3.6591	0.08232	0.0:0.467:0.2191:0.3139	.	58	Q6PRD7	CEMP1_HUMAN	T	58	ENSP00000371787:A58T	ENSP00000371787:A58T	A	-	1	0	CEMP1	2520904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.467000	0.00229	-1.585000	0.01634	-1.567000	0.00876	GCG		0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		65	250	0	0	0	1	0	65	250					T	2580903	C	T	2580903	3	4	79	1	0	0	0	0	1	0	0	0	3233	768	27	1	575	1	CEMP1	16	2580903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10049	2580903	87773850	15926	26243											
SRRM2	23524	broad.mit.edu	37	chr16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctaggtctcctcagCgaccaggctggtctaggagc	13	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	539	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTCCTCAGCGACCAGGCTG	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1615-1617)Cga>Tga		serine/arginine repetitive matrix 2							50	49	50					16																	2812144		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812144C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1615C>T	16.37:g.2812144C>T	ENSP00000301740:p.Arg539*						p.R539*	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2164	+			539			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.1615C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147204	0.97324	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	.	.	.	5.91	1.33	0.21861	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4156	13.596	0.61991	0.5421:0.4579:0.0:0.0	.	.	.	.	X	539;539;504	.	ENSP00000301740:R539X	R	+	1	2	SRRM2	2752145	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.373000	0.20484	0.330000	0.23485	0.655000	0.94253	CGA		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			27	271	0	0	0	1	0	27	271					T	2812144	C	T	2812144	4	4	79	1	0	0	0	0	0	1	0	0	15221	760	27	1	1653	1	SRRM2	16	2812144	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231241	2812144	87542609	15927	26244											
SRRM2	23524	broad.mit.edu	37	chr16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttctagaacaccagccCgccggggcaggtcccgctct	11	17	2	1	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	580	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACACCAGCCCGCCGGGGCAG	0.612																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1738-1740)Cgc>Tgc		serine/arginine repetitive matrix 2		C	CYS/ARG	0,4396		0,0,2198	33	39	37		1738	-0.7	0.3	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM2	NM_016333.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	580/2753	2812267	1,12995	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812267C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1738C>T	16.37:g.2812267C>T	ENSP00000301740:p.Arg580Cys						p.R580C	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2287	+			580			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1738C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807616	0.31961	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	-0.722	0.11184	.	0.000000	0.56097	D	0.000033	T	0.39332	0.1074	L	0.27053	0.805	0.22171	N	0.999313	D	0.89917	1.0	D	0.80764	0.994	T	0.46048	-0.9219	10	0.87932	D	0	-8.7656	15.3162	0.74081	0.6804:0.3196:0.0:0.0	.	580	Q9UQ35	SRRM2_HUMAN	C	580;580;545	ENSP00000301740:R580C	ENSP00000301740:R580C	R	+	1	0	SRRM2	2752268	0.020000	0.18652	0.280000	0.24747	0.992000	0.81027	0.103000	0.15292	-0.044000	0.13491	0.655000	0.94253	CGC		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	209	0	0	0	1	0	13	209					T	2812267	C	T	2812267	3	4	79	1	0	0	0	0	1	0	0	0	15221	652	23	1	1776	1	SRRM2	16	2812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	2812267	87542486	15928	26245											
SRRM2	23524	broad.mit.edu	37	chr16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctctcggcgaagacagCggagccggtcaaggtcgcgg	15	13	2	1	rs200295693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1803	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAAGACAGCGGAGCCGGTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16846	0.0		0.0	False		,,,				2504	0.0					ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5407-5409)Cgg>Tgg		serine/arginine repetitive matrix 2							39	46	44					16																	2815936		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815936C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5407C>T	16.37:g.2815936C>T	ENSP00000301740:p.Arg1803Trp						p.R1803W	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5956	+			1803			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5407C>T	CCDS32373.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.025	0.985903	0.18889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	3.3	0.37823	.	0.000000	0.56097	D	0.000032	T	0.41419	0.1158	N	0.08118	0	0.32718	N	0.510672	D	0.89917	1.0	D	0.77557	0.99	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.0486	10.9653	0.47408	0.4254:0.5746:0.0:0.0	.	1803	Q9UQ35	SRRM2_HUMAN	W	1803;1803;1055	ENSP00000301740:R1803W	ENSP00000301740:R1803W	R	+	1	2	SRRM2	2755937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.904000	0.28491	0.479000	0.27511	0.650000	0.86243	CGG		0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			47	222	0	0	0	1	0	47	222					T	2815936	C	T	2815936	3	4	79	1	0	0	0	0	1	0	0	0	15221	759	27	1	5445	1	SRRM2	16	2815936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	2815936	87538817	15929	26246											
SRRM2	23524	broad.mit.edu	37	chr16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctgccccaagccaAtctaggatgacctctgaacg	8	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000301740.8	+	11	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2416	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7246-7248)caA>caC		serine/arginine repetitive matrix 2							78	67	71					16																	2817777		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817777A>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7248A>C	16.37:g.2817777A>C	ENSP00000301740:p.Gln2416His					SRRM2_ENST00000574593.1_3'UTR	p.Q2416H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7797	+			2416			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7248A>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281883	0.23392	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.91	-0.206	0.13193	.	0.095774	0.46442	N	0.000283	T	0.58148	0.2102	N	0.19112	0.55	0.26150	N	0.980158	B	0.06786	0.001	B	0.04013	0.001	T	0.50004	-0.8878	10	0.62326	D	0.03	-2.6915	6.4015	0.21640	0.3947:0.1244:0.4809:0.0	.	2416	Q9UQ35	SRRM2_HUMAN	H	2416;1668	ENSP00000301740:Q2416H	ENSP00000301740:Q2416H	Q	+	3	2	SRRM2	2757778	1.000000	0.71417	0.986000	0.45419	0.622000	0.37654	0.476000	0.22180	-0.086000	0.12550	-0.119000	0.15052	CAA		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			66	324	0	0	0	1	0	66	324					C	2817777	A	C	2817777	3	2	79	1	0	0	0	0	1	0	0	0	15221	98	4	4	7286	4	SRRM2	16	2817777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1841	2817777	87536976	15930	26247											
TCEB2	6923	broad.mit.edu	37	chr16	2822078	2822078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgggctggaaaacggctcGatgcacagggcctcaaaggt	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000409906.4	-	4	327	c.270C>T	c.(268-270)atC>atT	p.I90I	AC092117.2_ENST00000581119.1_RNA|TCEB2_ENST00000572954.1_Missense_Mutation_p.S55L|TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000409477.1_Silent_p.I85I	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	90					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)	p.I90I(1)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612																																					GBM(141;5215 5962)	ENST00000572954.1																			1	Substitution - coding silent(1)	p.I90I(1)	endometrium(1)	endometrium(2)|prostate(1)	3						c.(163-165)tCg>tTg		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							32	31	31					16																	2822078		2198	4300	6498	SO:0001819	synonymous_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2822078G>A	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.270C>T	16.37:g.2822078G>A						TCEB2_ENST00000409906.4_Silent_p.I90I|TCEB2_ENST00000409477.1_Silent_p.I85I|TCEB2_ENST00000262306.7_Silent_p.I90I	p.S55L			Q15370	ELOB_HUMAN			3	196	-			0			Ubiquitin-like.		B7WPD3	Missense_Mutation	SNP	ENST00000409906.4	37	c.164C>T	CCDS45387.1																																																																																				0.612	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		13	165	0	0	0	1	0	13	165					A	2822078	G	A	2822078	2	1	79	1	0	0	0	0	0	0	0	1	15732	1048	37	1		1	TCEB2	16	2822078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4301	2822078	87532675	15931	26248											
PRSS21	10942	broad.mit.edu	37	chr16	2867430	2867430	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcacttcttgtctcccgcaGagtcgcaggaggcggcgccg	14	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000005995.3	+	2	106		c.e2-1		PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000455114.1_Splice_Site			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)						spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.e2-1		protease, serine, 21 (testisin)							9	9	9					16																	2867430		1961	3915	5876	SO:0001630	splice_region_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2867430G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.65-1G>A	16.37:g.2867430G>A						PRSS21_ENST00000005995.3_Splice_Site|PRSS21_ENST00000450020.3_Splice_Site		NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			2	170	+								Q9NS34|Q9P2V6	Splice_Site	SNP	ENST00000005995.3	37		CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490727	0.26686	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8718	0.46887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS21	2807431	0.006000	0.16342	0.024000	0.17045	0.013000	0.08279	0.630000	0.24553	1.800000	0.52685	0.401000	0.26515	.		0.741	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799	Intron	15	96	0	0	0	1	0	15	96					A	2867430	G	A	2867430	5	1	79	1	0	0	0	0	0	0	1	0	12665	956	33	2	70	2	PRSS21	16	2867430	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45352	2867430	87487323	15932	26249											
ZG16B	124220	broad.mit.edu	37	chr16	2880318	2880318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcacaaccagacgcccaGtcacaggcgaggtaaggtgc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2880318G>T	ENST00000382280.3	+	1	149	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F	ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	24					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAGACGCCCAGTCACAGGCGA	0.652																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(70-72)Gtc>Ttc		zymogen granule protein 16B							38	48	45					16																	2880318		1955	4128	6083	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880318G>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.70G>T	16.37:g.2880318G>T	ENSP00000371715:p.Val24Phe						p.V24F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			1	149	+			24					A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.70G>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812131	0.16537	.	.	ENSG00000162078	ENST00000382280	T	0.38887	1.11	2.93	-5.85	0.02311	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	P	0.42908	0.793	B	0.40134	0.32	T	0.23332	-1.0191	9	0.54805	T	0.06	.	5.8272	0.18560	0.318:0.0:0.5352:0.1467	.	24	Q96DA0	ZG16B_HUMAN	F	24	ENSP00000371715:V24F	ENSP00000371715:V24F	V	+	1	0	ZG16B	2820319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.451000	0.21779	-1.582000	0.01640	-0.360000	0.07572	GTC		0.652	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		6	107	1	0	3.59834e-05	1	3.67436e-05	6	107					T	2880318	G	T	2880318	3	4	79	1	0	0	0	0	1	0	0	0	17725	1029	36	3	72	3	ZG16B	16	2880318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12888	2880318	87474435	15933	26250											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacctgccgggaccacgCgctgcacggctgccggagcc	15	16	0	0	rs374956718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000253928.9	+	5	1328	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	308						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(922-924)gCg>gTg		FLYWCH-type zinc finger 1		C	VAL/ALA,VAL/ALA	0,4200		0,0,2100	21	25	24		920,920	1.2	0	16		24	1,8409		0,1,4204	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	64,64	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	307/704,307/716	2983257	1,12609	2100	4205	6305	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983257C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.923C>T	16.37:g.2983257C>T	ENSP00000253928:p.Ala308Val					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.A308V	p.A308V			Q4VC44	FWCH1_HUMAN			5	1286	+			308					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.923C>T		.	.	.	.	.	.	.	.	.	.	C	5.962	0.361467	0.11296	0.0	1.19E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	1.16	0.20824	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.35393	0.0930	L	0.48642	1.525	0.09310	N	1	B;D	0.61697	0.106;0.99	B;P	0.48704	0.018;0.587	T	0.16424	-1.0403	8	0.59425	D	0.04	.	7.0628	0.25135	0.0:0.6751:0.0:0.3249	.	308;307	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	V	308;308;307	.	ENSP00000253928:A308V	A	+	2	0	FLYWCH1	2923258	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.149000	0.10204	0.399000	0.25367	-0.258000	0.10820	GCG		0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		24	123	0	0	0	1	0	24	123					T	2983257	C	T	2983257	3	4	79	1	0	0	0	0	1	0	0	0	5972	768	27	1	930	1	FLYWCH1	16	2983257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102939	2983257	87371496	15934	26251											
PAQR4	124222	broad.mit.edu	37	chr16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactggtaaatgtagcccGtctgcccgagcgctggggac	16	11	1	0	rs377539451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000318782.8	+	3	1098	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	223						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R223L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672																																						ENST00000318782.8																			1	Substitution - Missense(1)	p.R223L(1)	lung(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(667-669)cGt>cAt		progestin and adipoQ receptor family member IV		G	HIS/ARG	0,4396		0,0,2198	47	50	49		668	4.8	1	16		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	223/274	3021795	1,12995	2198	4300	6498	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021795G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.668G>A	16.37:g.3021795G>A	ENSP00000321804:p.Arg223His					PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H	p.R223H	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1098	+			223					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.668G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583961	0.65992	0.0	1.16E-4	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.33865	1.39	4.81	4.81	0.61882	.	0.063428	0.64402	D	0.000004	T	0.56673	0.2001	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.973;0.929;0.982	T	0.58864	-0.7561	10	0.54805	T	0.06	-29.6577	15.3988	0.74818	0.0:0.0:1.0:0.0	.	148;184;223	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	H	223;149	ENSP00000321804:R223H	ENSP00000293978:R149H	R	+	2	0	PAQR4	2961796	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.200000	0.77838	2.220000	0.72140	0.457000	0.33378	CGT		0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		30	323	0	0	0	1	0	30	323					A	3021795	G	A	3021795	3	1	79	1	0	0	0	0	1	0	0	0	11479	1145	40	1	678	1	PAQR4	16	3021795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38538	3021795	87332958	15935	26252											
PAQR4	124222	broad.mit.edu	37	chr16	3021850	3021850	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactggggcaactcccaccaGatcatgcacctgctgagcgt	10	14	1	2	rs576724634		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000318782.8	+	3	1153	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PAQR4_ENST00000574988.1_Silent_p.Q174Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.Q202Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	241						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(721-723)caG>caA		progestin and adipoQ receptor family member IV							40	43	42					16																	3021850		2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021850G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.723G>A	16.37:g.3021850G>A						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PAQR4_ENST00000574988.1_Silent_p.Q174Q	p.Q241Q	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1153	+			241					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.723G>A	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		57	232	0	0	0	1	0	57	232					A	3021850	G	A	3021850	2	1	79	1	0	0	0	0	0	0	0	1	11479	933	33	2		2	PAQR4	16	3021850	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	3021850	87332903	15936	26253											
PKMYT1	9088	broad.mit.edu	37	chr16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagtctggggctcagGttgggtctagggtgtcctca	17	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000262300.8	-	9	2004	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000440027.2_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I|PAQR4_ENST00000293978.8_3'UTR	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	499	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCTCAGGTTGGGTCTAG	0.577																																						ENST00000262300.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1495-1497)aCc>aTc		protein kinase, membrane associated tyrosine/threonine 1							56	53	54					16																	3022958		2195	4296	6491	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3022958G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1496C>T	16.37:g.3022958G>A	ENSP00000262300:p.Thr499Ile					PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	p.T499I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN			9	2004	-			499			Interaction with CDC2-CCNB1.|Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.1496C>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051002	0.19827	.	.	ENSG00000127564	ENST00000262300;ENST00000402679	T	0.58940	0.3	5.34	0.64	0.17752	.	0.858383	0.10244	N	0.698096	T	0.32882	0.0844	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.015;0.015	T	0.14868	-1.0457	10	0.66056	D	0.02	.	4.123	0.10114	0.0873:0.2402:0.5013:0.1713	.	430;499	B4DXD4;Q99640	.;PMYT1_HUMAN	I	499	ENSP00000262300:T499I	ENSP00000262300:T499I	T	-	2	0	PKMYT1	2962959	0.030000	0.19436	0.761000	0.31378	0.963000	0.63663	0.014000	0.13333	0.230000	0.21059	0.561000	0.74099	ACC		0.577	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		18	82	0	0	0	1	0	18	82					A	3022958	G	A	3022958	3	1	79	1	0	0	0	0	1	0	0	0	12020	1261	44	2	7	2	PKMYT1	16	3022958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1108	3022958	87331795	15937	26254											
PKMYT1	9088	broad.mit.edu	37	chr16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagggctctgcagagtctCtgaggcctcgccccggaatg	13	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000262300.8	-	3	776	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	90					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667																																						ENST00000431515.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(268-270)Gag>Tag		protein kinase, membrane associated tyrosine/threonine 1							11	11	11					16																	3026775		2184	4297	6481	SO:0001587	stop_gained	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3026775C>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.268G>T	16.37:g.3026775C>A	ENSP00000262300:p.Glu90*					PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	p.E90*			Q99640	PMYT1_HUMAN			3	653	-			90					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000262300.8	37	c.268G>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119419	0.77323	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.78	4.83	0.62350	.	0.598474	0.18049	N	0.153369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.655	12.6587	0.56801	0.0:0.92:0.0:0.08	.	.	.	.	X	90;90;90;90;81	.	ENSP00000262300:E90X	E	-	1	0	PKMYT1	2966776	0.035000	0.19736	0.176000	0.23000	0.070000	0.16714	1.081000	0.30791	1.436000	0.47453	-0.140000	0.14226	GAG		0.667	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		23	53	1	0	5.35356e-11	1	5.69577e-11	23	53					A	3026775	C	A	3026775	4	1	79	1	0	0	0	0	0	1	0	0	12020	922	32	3	1297	3	PKMYT1	16	3026775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3817	3026775	87327978	15938	26255											
CLDN9	9080	broad.mit.edu	37	chr16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgcaggacctgcaggCcgcacgtgccctctgtgtca	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	79					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647																																						ENST00000445369.2																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(235-237)gCc>gTc		claudin 9							100	79	86					16																	3063599		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063599C>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.236C>T	16.37:g.3063599C>T	ENSP00000398017:p.Ala79Val						p.A79V	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1143	+			79						Missense_Mutation	SNP	ENST00000445369.2	37	c.236C>T	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941470	0.53079	.	.	ENSG00000213937	ENST00000445369	D	0.91996	-2.95	4.72	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.52758	0.708	D	0.93375	0.6738	10	0.66056	D	0.02	.	11.8215	0.52240	0.1766:0.8234:0.0:0.0	.	79	O95484	CLD9_HUMAN	V	79	ENSP00000398017:A79V	ENSP00000398017:A79V	A	+	2	0	CLDN9	3003600	1.000000	0.71417	0.828000	0.32881	0.394000	0.30568	5.929000	0.70096	1.144000	0.42321	0.467000	0.42956	GCC		0.647	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		97	323	0	0	0	1	0	97	323					T	3063599	C	T	3063599	3	4	79	1	0	0	0	0	1	0	0	0	3501	739	26	2	238	2	CLDN9	16	3063599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36824	3063599	87291154	15939	26256											
TNFRSF12A	51330	broad.mit.edu	37	chr16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtgcatggactgcgcgtCttgcagggcgcgaccgcaca	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|THOC6_ENST00000253952.9_5'Flank|CLDN6_ENST00000396925.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000574549.1_5'Flank|TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	54					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736																																						ENST00000326577.4																			0				lung(1)|skin(1)	2						c.(160-162)tCt>tTt		tumor necrosis factor receptor superfamily, member 12A							13	15	14					16																	3071282		2182	4281	6463	SO:0001583	missense	0				angiogenesis|apoptosis	integral to membrane	receptor activity	g.chr16:3071282C>T	AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"Tumor necrosis factor receptor superfamily", "CD molecules"	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.161C>T	16.37:g.3071282C>T	ENSP00000326737:p.Ser54Phe					TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron	p.S54F	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN			2	247	+			54					D3DUA6|Q9HCS0	Missense_Mutation	SNP	ENST00000326577.4	37	c.161C>T	CCDS10489.1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050320	0.19827	.	.	ENSG00000006327	ENST00000326577	.	.	.	4.76	3.81	0.43845	.	.	.	.	.	T	0.44286	0.1286	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.46850	0.529	T	0.37291	-0.9712	8	0.54805	T	0.06	-7.165	9.1036	0.36685	0.0:0.8976:0.0:0.1024	.	54	Q9NP84	TNR12_HUMAN	F	54	.	ENSP00000326737:S54F	S	+	2	0	TNFRSF12A	3011283	0.707000	0.27866	0.682000	0.30024	0.219000	0.24729	2.992000	0.49417	1.003000	0.39130	0.561000	0.74099	TCT		0.736	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1			24	97	0	0	0	1	0	24	97					T	3071282	C	T	3071282	3	4	79	1	0	0	0	0	1	0	0	0	16338	913	32	2	167	2	TNFRSF12A	16	3071282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7683	3071282	87283471	15940	26257											
THOC6	79228	broad.mit.edu	37	chr16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G													gggccacacagactacatccActgcctggcactgcgggaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	172					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(514-516)cAc>cGc		THO complex 6 homolog (Drosophila)							69	62	65					16																	3076711		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076711A>G	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.515A>G	16.37:g.3076711A>G	ENSP00000326531:p.His172Arg					THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	p.H172R	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			8	811	+			172					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.515A>G	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152989	0.78001	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.57107	0.42;0.42	5.59	5.59	0.84812	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	0.54287	0.1849	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.967;0.979	T	0.51348	-0.8717	10	0.20046	T	0.44	-12.7575	13.695	0.62572	1.0:0.0:0.0:0.0	.	172;172	Q86W42-3;Q86W42	.;THOC6_HUMAN	R	172	ENSP00000326531:H172R;ENSP00000253952:H172R	ENSP00000253952:H172R	H	+	2	0	THOC6	3016712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.125000	0.65367	0.459000	0.35465	CAC		0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		32	109	0	0	0	1	0	32	109					G	3076711	A	G	3076711	3	3	79	1	0	0	0	0	1	0	0	0	15921	159	6	4	545	4	THOC6	16	3076711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5429	3076711	87278042	15941	26258	165	2									
THOC6	79228	broad.mit.edu	37	chr16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A													cagactacatccactgcctgGcactgcgggaaaggagccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	175					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACTGCCTGGCACTGCGGGA	0.607																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(523-525)Gca>Aca		THO complex 6 homolog (Drosophila)							72	65	67					16																	3076719		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076719G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.523G>A	16.37:g.3076719G>A	ENSP00000326531:p.Ala175Thr					THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	p.A175T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			8	819	+			175					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.523G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591751	0.46214	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.63744	-0.06;-0.06	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161710	0.53938	D	0.000043	T	0.59432	0.2193	L	0.52759	1.655	0.39501	D	0.968208	B;B	0.29552	0.208;0.248	B;B	0.30179	0.068;0.112	T	0.60326	-0.7285	10	0.46703	T	0.11	-22.8815	17.0618	0.86549	0.0:0.0:1.0:0.0	.	175;175	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	175	ENSP00000326531:A175T;ENSP00000253952:A175T	ENSP00000253952:A175T	A	+	1	0	THOC6	3016720	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.137000	0.42130	2.631000	0.89168	0.561000	0.74099	GCA		0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		6	136	0	0	0	1	0	6	136					A	3076719	G	A	3076719	3	1	79	1	0	0	0	0	1	0	0	0	15921	1203	42	2	553	2	THOC6	16	3076719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	3076719	87278034	15942	26259	165	2									
CCDC64B	146439	broad.mit.edu	37	chr16	3078764	3078764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccagggtcttcctgcGcccgcagctccttctgcctc	8	21	2	0	rs376295108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	ENST00000572449.1	-	8	1237	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V|CCDC64B_ENST00000573514.1_Missense_Mutation_p.A185V			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	392										breast(1)|endometrium(2)|large_intestine(1)	4						GTCTTCCTGCGCCCGCAGCTC	0.667																																						ENST00000573514.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(553-555)gCg>gTg		coiled-coil domain containing 64B		G	VAL/ALA	2,4062		0,2,2030	23	32	29		1175	-0.6	0	16		29	0,8302		0,0,4151	no	missense	CCDC64B	NM_001103175.1	64	0,2,6181	AA,AG,GG		0.0,0.0492,0.0162	benign	392/509	3078764	2,12364	2032	4151	6183	SO:0001583	missense	146439							g.chr16:3078764G>A	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1175C>T	16.37:g.3078764G>A	ENSP00000459043:p.Ala392Val					CCDC64B_ENST00000572449.1_Missense_Mutation_p.A392V|CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V	p.A185V			A1A5D9	BICR2_HUMAN			6	2744	-			392					Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	c.554C>T	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274034	0.23221	4.92E-4	0.0	ENSG00000162069	ENST00000389347	T	0.32023	1.47	4.28	-0.618	0.11576	.	0.720818	0.12366	N	0.475230	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18366	-1.0339	10	0.45353	T	0.12	-3.7626	5.0526	0.14516	0.1749:0.0:0.2826:0.5425	.	392	A1A5D9	BICR2_HUMAN	V	392	ENSP00000373998:A392V	ENSP00000373998:A392V	A	-	2	0	CCDC64B	3018765	0.000000	0.05858	0.006000	0.13384	0.239000	0.25481	0.214000	0.17541	-0.176000	0.10707	0.561000	0.74099	GCG		0.667	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			9	12	0	0	0	1	0	9	12					A	3078764	G	A	3078764	3	1	79	1	0	0	0	0	1	0	0	0	2843	1087	38	1	363	1	CCDC64B	16	3078764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045	3078764	87275989	15943	26260											
MMP25	64386	broad.mit.edu	37	chr16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcccgacatcctcatcGactttgcccgcgccttccac	8	18	1	0	rs538501940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	184					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CATCCTCATCGACTTTGCCCG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.001		0.0	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(517-519)Gac>Aac		matrix metallopeptidase 25							52	48	49					16																	3100403		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100403G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.517G>A	16.37:g.3100403G>A	ENSP00000337816:p.Asp173Asn					MMP25_ENST00000570755.1_3'UTR	p.D173N	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	754	+			173					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.517G>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891265	0.17613	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.20463	2.07	4.96	2.83	0.33086	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123299	0.36034	N	0.002821	T	0.21186	0.0510	L	0.54323	1.7	0.22127	N	0.999349	P;P	0.44690	0.806;0.841	B;P	0.44897	0.232;0.463	T	0.07790	-1.0754	10	0.27785	T	0.31	.	7.8239	0.29303	0.0949:0.2212:0.6838:0.0	.	97;173	O43923;Q9NPA2	.;MMP25_HUMAN	N	173;100	ENSP00000337816:D173N	ENSP00000324953:D100N	D	+	1	0	MMP25	3040404	0.000000	0.05858	0.990000	0.47175	0.115000	0.19883	0.369000	0.20416	0.380000	0.24823	0.655000	0.94253	GAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		14	330	0	0	0	1	0	14	330					A	3100403	G	A	3100403	3	1	79	1	0	0	0	0	1	0	0	0	9703	1058	37	1	531	1	MMP25	16	3100403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21639	3100403	87254350	15944	26261											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccgcactcgctgcagCggcagggcttctcgcccgtg	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	580					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1738-1740)cGc>cAc		zinc finger and SCAN domain containing 10							13	14	13					16																	3139531		2186	4268	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139531C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1739G>A	16.37:g.3139531C>T	ENSP00000252463:p.Arg580His					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	p.R580H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1826	-			580					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1739G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894870	0.52121	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.37411	1.2	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136846	0.34067	N	0.004290	T	0.40040	0.1101	N	0.16708	0.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.63703	0.917;0.916;0.877	T	0.33879	-0.9851	10	0.62326	D	0.03	-34.0564	11.6059	0.51031	0.1779:0.8221:0.0:0.0	.	241;513;580	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	513;580	ENSP00000252463:R580H	ENSP00000252463:R580H	R	-	2	0	ZSCAN10	3079532	0.000000	0.05858	1.000000	0.80357	0.900000	0.52787	-1.643000	0.02004	2.504000	0.84457	0.561000	0.74099	CGC		0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		27	138	0	0	0	1	0	27	138					T	3139531	C	T	3139531	3	4	79	1	0	0	0	0	1	0	0	0	18280	768	27	1	442	1	ZSCAN10	16	3139531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39128	3139531	87215222	15945	26262											
ZSCAN10	84891	broad.mit.edu	37	chr16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggctcagggacgcccGtggccccatgtcctcctgat	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	4	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(10-12)Cgg>Tgg		zinc finger and SCAN domain containing 10							10	12	12					16																	3142764		2192	4289	6481	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3142764G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.10C>T	16.37:g.3142764G>A	ENSP00000252463:p.Arg4Trp					ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M	p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			1	97	-			4			SCAN box.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.10C>T	CCDS10493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741812|1.741812	0.30865|0.30865	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000252463|ENST00000538082	T|.	0.05580|.	3.42|.	5.39|5.39	0.17|0.17	0.15021|0.15021	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);|.	0.145945|.	0.31279|.	N|.	0.007926|.	T|T	0.55465|0.55465	0.1922|0.1922	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	D|B	0.69078|0.28055	0.997|0.199	P|B	0.58077|0.25140	0.832|0.058	T|T	0.52815|0.52815	-0.8525|-0.8525	10|8	0.87932|0.42905	D|T	0|0.14	-39.5061|-39.5061	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.4185:0.5815|0.0:0.0:0.4185:0.5815	.|.	4|26	Q96SZ4|Q1WWM2	ZSC10_HUMAN|.	W|M	4|26	ENSP00000252463:R4W|.	ENSP00000252463:R4W|ENSP00000440047:T26M	R|T	-|-	1|2	2|0	ZSCAN10|ZSCAN10	3082765|3082765	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.116000|-0.116000	0.10724|0.10724	0.156000|0.156000	0.19299|0.19299	-0.277000|-0.277000	0.10078|0.10078	CGG|ACG		0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		24	76	0	0	0	1	0	24	76					A	3142764	G	A	3142764	3	1	79	1	0	0	0	0	1	0	0	0	18280	1144	40	1	2187	1	ZSCAN10	16	3142764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3233	3142764	87211989	15946	26263											
ZNF205	7755	broad.mit.edu	37	chr16	3170128	3170128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcttcagccacagctcGcacctcaccgcgcaccagcg	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCACAGCTCGCACCTCACCG	0.677																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1465-1467)tcG>tcA		zinc finger protein 205							94	82	86					16																	3170128		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3170128G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1467G>A	16.37:g.3170128G>A						RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1672	+			489					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1467G>A	CCDS10494.2																																																																																				0.677	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		120	502	0	0	0	1	0	120	502					A	3170128	G	A	3170128	2	1	79	1	0	0	0	0	0	0	0	1	17817	1074	38	1		1	ZNF205	16	3170128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	3170128	87184625	15947	26264											
ZNF213	7760	broad.mit.edu	37	chr16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcatgaggatggcaGggattccgaagcctgccgcc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000576590.1_RNA|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|RP11-473M20.14_ENST00000571963.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	39					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(115-117)aGg>aTg		zinc finger protein 213							39	41	40					16																	3187397		2197	4298	6495	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187397G>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.116G>T	16.37:g.3187397G>T	ENSP00000380087:p.Arg39Met					ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M	p.R39M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			2	591	+			39					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.116G>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335251	0.11013	.	.	ENSG00000085644	ENST00000396878	T	0.05717	3.4	5.12	1.98	0.26296	Retrovirus capsid, C-terminal (1);	0.760921	0.11583	N	0.549599	T	0.10380	0.0254	L	0.43152	1.355	0.09310	N	1	P	0.52577	0.954	P	0.52109	0.69	T	0.21930	-1.0231	10	0.66056	D	0.02	.	6.7552	0.23510	0.189:0.184:0.627:0.0	.	39	O14771	ZN213_HUMAN	M	39	ENSP00000380087:R39M	ENSP00000380087:R39M	R	+	2	0	ZNF213	3127398	0.000000	0.05858	0.350000	0.25708	0.663000	0.39108	0.087000	0.14958	0.581000	0.29539	-0.140000	0.14226	AGG		0.622	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		60	296	1	0	1.07751e-37	1	1.29517e-37	60	296					T	3187397	G	T	3187397	3	4	79	1	0	0	0	0	1	0	0	0	17822	1000	35	3	118	3	ZNF213	16	3187397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17269	3187397	87167356	15948	26265											
ZNF213	7760	broad.mit.edu	37	chr16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgctggaccatcggcGtgtgcacaccggtgagcggc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(1261-1263)cGt>cAt		zinc finger protein 213							41	42	41					16																	3191230		2196	4299	6495	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3191230G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1262G>A	16.37:g.3191230G>A	ENSP00000380087:p.Arg421His					ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H	p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1737	+			421					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.1262G>A	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083241	0.76642	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.54159	0.1841	M	0.81112	2.525	0.37749	D	0.925892	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.87932	D	0	.	15.9873	0.80168	0.0:0.0:1.0:0.0	.	421	O14771	ZN213_HUMAN	H	421;263	ENSP00000380087:R421H;ENSP00000403892:R263H	ENSP00000380087:R421H	R	+	2	0	ZNF213	3131231	0.004000	0.15560	0.958000	0.39756	0.981000	0.71138	1.334000	0.33827	2.365000	0.80145	0.462000	0.41574	CGT		0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		83	308	0	0	0	1	0	83	308					A	3191230	G	A	3191230	3	1	79	1	0	0	0	0	1	0	0	0	17822	1145	40	1	1280	1	ZNF213	16	3191230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3191230	87163523	15949	26266											
MEFV	4210	broad.mit.edu	37	chr16	3293600	3293600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctttgcgggccatcaggCagcctctcccacttgtttcc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000219596.1	-	10	1926	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.L449L|MEFV_ENST00000536379.1_Silent_p.L418L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	629	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCATCAGGCAGCCTCTCCC	0.502																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1885-1887)ctG>ctA		Mediterranean fever	Colchicine(DB01394)						178	192	187					16																	3293600		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293600C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1887G>A	16.37:g.3293600C>T						MEFV_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.L449L	p.L629L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1926	-			629			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1887G>A	CCDS10498.1																																																																																				0.502	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		288	1307	0	0	0	1	0	288	1307					T	3293600	C	T	3293600	2	4	79	1	0	0	0	0	0	0	0	1	9500	697	25	2		2	MEFV	16	3293600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102370	3293600	87061153	15950	26267											
ZNF263	10127	broad.mit.edu	37	chr16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctggaggaggactgcGcctggagccaggagctgccc	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000219069.5	+	1	943	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	23					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(67-69)Gcc>Acc		zinc finger protein 263							34	40	38					16																	3333885		2197	4299	6496	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3333885G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.67G>A	16.37:g.3333885G>A	ENSP00000219069:p.Ala23Thr					ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T	p.A23T	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			1	943	+			23					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.67G>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096876	0.08681	.	.	ENSG00000006194	ENST00000219069	T	0.04809	3.55	5.06	3.08	0.35506	.	0.623424	0.15188	N	0.275713	T	0.02455	0.0075	N	0.14661	0.345	0.29067	N	0.883524	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	7.4218	0.27075	0.1935:0.0:0.8065:0.0	.	23;23	O14978;D3DUC1	ZN263_HUMAN;.	T	23	ENSP00000219069:A23T	ENSP00000219069:A23T	A	+	1	0	ZNF263	3273886	0.021000	0.18746	0.999000	0.59377	0.980000	0.70556	0.319000	0.19522	1.468000	0.48064	0.655000	0.94253	GCC		0.677	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			32	271	0	0	0	1	0	32	271					A	3333885	G	A	3333885	3	1	79	1	0	0	0	0	1	0	0	0	17856	1087	38	1	69	1	ZNF263	16	3333885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40285	3333885	87020868	15951	26268											
ZNF263	10127	broad.mit.edu	37	chr16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggagggcctgagccccaGaggcccagctccaggtaagg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000219069.5	+	5	1748	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	291					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(871-873)aGa>aTa		zinc finger protein 263							50	49	50					16																	3338556		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3338556G>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.872G>T	16.37:g.3338556G>T	ENSP00000219069:p.Arg291Ile					ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron	p.R291I	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			5	1748	+			291					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.872G>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.403	0.074462	0.08485	.	.	ENSG00000006194	ENST00000219069	T	0.05855	3.38	5.5	3.31	0.37934	.	0.552403	0.16687	N	0.203685	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999994	B	0.22480	0.07	B	0.25759	0.063	T	0.38802	-0.9644	10	0.38643	T	0.18	.	8.8994	0.35485	0.1948:0.0:0.8052:0.0	.	291	O14978	ZN263_HUMAN	I	291	ENSP00000219069:R291I	ENSP00000219069:R291I	R	+	2	0	ZNF263	3278557	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.366000	0.20365	1.300000	0.44818	0.655000	0.94253	AGA		0.547	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			28	183	1	0	1.75199e-13	1	1.89187e-13	28	183					T	3338556	G	T	3338556	3	4	79	1	0	0	0	0	1	0	0	0	17856	942	33	3	890	3	ZNF263	16	3338556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	3338556	87016197	15952	26269											
TIGD7	91151	broad.mit.edu	37	chr16	3350471	3350472	+	Frame_Shift_Ins	INS	-	-	T													agtccagaattaacttcttaINSttttttttaatgtcataaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3350471_3350472insT	ENST00000396862.1	-	2	1971_1972	c.143_144insA	c.(142-144)aatfs	p.N48fs	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.N48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	48	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAAT	0.361																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(142-144)aaafs		tigger transposable element derived 7																																				SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350471_3350472insT	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.144dupA	16.37:g.3350479_3350479dupT	ENSP00000380071:p.Asn48fs					TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.K48fs	p.K48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1971_1972	-			48			HTH psq-type.		Q9BXZ0	Frame_Shift_Ins	INS	ENST00000396862.1	37	c.143_144insA	CCDS10500.1																																																																																				0.361	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		7	695						7	695	---	---	---	---	T	3350472	-	T	3350471	7	5	79	1	0	1	1	0	0	0	0	0	15953	446	16	0	1509	0	TIGD7	16	3350471	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	11915	3350471	87004282	15953	26270											
OR2C1	4993	broad.mit.edu	37	chr16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatctgctggtggtgTtcctcttctatggctcagcc	9	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	249					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(745-747)Ttc>Ctc		olfactory receptor, family 2, subfamily C, member 1							151	124	134					16																	3406685		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406685T>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.745T>C	16.37:g.3406685T>C	ENSP00000307726:p.Phe249Leu						p.F249L	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	797	+			249					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.745T>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	2.689	-0.273511	0.05679	.	.	ENSG00000168158	ENST00000304936	T	0.34072	1.38	5.0	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	1.444030	0.05098	N	0.486474	T	0.18087	0.0434	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.23691	-1.0181	10	0.49607	T	0.09	.	5.3433	0.15996	0.0:0.2708:0.2594:0.4699	.	249	O95371	OR2C1_HUMAN	L	249	ENSP00000307726:F249L	ENSP00000307726:F249L	F	+	1	0	OR2C1	3346686	0.000000	0.05858	0.244000	0.24202	0.114000	0.19823	-0.662000	0.05305	-0.504000	0.06577	-1.288000	0.01363	TTC		0.542	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			106	352	0	0	0	1	0	106	352					C	3406685	T	C	3406685	3	2	79	1	0	0	0	0	1	0	0	0	11034	1725	60	4	747	4	OR2C1	16	3406685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56214	3406685	86948068	15954	26271											
NAT15	79903	broad.mit.edu	37	chr16	3533542	3533542	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccattcgaggggtcctcaaaGatggcttcacctatgtcctc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3533542G>T	ENST00000407558.4	+	6	820	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608722.1_Missense_Mutation_p.D173Y|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000360862.5_Missense_Mutation_p.D108Y|NAA60_ENST00000575076.1_Missense_Mutation_p.D173Y|NAA60_ENST00000572584.1_Missense_Mutation_p.D173Y|NAA60_ENST00000424546.2_Missense_Mutation_p.D180Y|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000610180.1_Missense_Mutation_p.D173Y|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.D173Y|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000608993.1_Missense_Mutation_p.D108Y|NAA60_ENST00000573580.1_Missense_Mutation_p.D108Y			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	173	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GGTCCTCAAAGATGGCTTCAC	0.493																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(517-519)Gat>Tat		N(alpha)-acetyltransferase 60, NatF catalytic subunit							138	139	138					16																	3533542		1973	4158	6131	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3533542G>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.517G>T	16.37:g.3533542G>T	ENSP00000385903:p.Asp173Tyr					NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000360862.5_Missense_Mutation_p.D108Y|NAA60_ENST00000575076.1_Missense_Mutation_p.D173Y|NAA60_ENST00000577013.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000573580.1_Missense_Mutation_p.D108Y|NAA60_ENST00000424546.2_Missense_Mutation_p.D180Y|NAA60_ENST00000572584.1_Missense_Mutation_p.D173Y|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.D173Y|LA16c-306E5.3_ENST00000574423.2_RNA	p.D173Y	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN			6	820	+			173			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.517G>T	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792774	0.90453	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.65178	-0.14;0.02;0.02;0.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.85130	0.0974	10	0.87932	D	0	-20.2349	18.6698	0.91507	0.0:0.0:1.0:0.0	.	180;173	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	Y	180;173;173;108	ENSP00000401237:D180Y;ENSP00000385903:D173Y;ENSP00000393224:D173Y;ENSP00000354108:D108Y	ENSP00000354108:D108Y	D	+	1	0	NAA60	3473543	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.368000	0.97152	2.733000	0.93635	0.561000	0.74099	GAT		0.493	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		65	278	1	0	1.15062e-32	1	1.35981e-32	65	278					T	3533542	G	T	3533542	3	4	79	1	0	0	0	0	1	0	0	0	10217	942	33	3	531	3	NAT15	16	3533542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126857	3533542	86821211	15955	26272											
C16orf90	646174	broad.mit.edu	37	chr16	3544819	3544819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccccaggcccccctcGtagatgttggggggtgcgtc	17	13	0	1	rs368416924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716																																						ENST00000437192.3																			0				large_intestine(1)	1						c.(103-105)taC>taT		chromosome 16 open reading frame 90		G		0,3652		0,0,1826	13	15	14		105	-1.3	1	16		14	3,8051		0,3,4024	no	coding-synonymous	C16orf90	NM_001080524.1		0,3,5850	AA,AG,GG		0.0372,0.0,0.0256		35/183	3544819	3,11703	1826	4027	5853	SO:0001819	synonymous_variant	646174							g.chr16:3544819G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.105C>T	16.37:g.3544819G>A						LA16c-306E5.3_ENST00000574423.2_RNA	p.Y35Y	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN			2	107	-			25						Silent	SNP	ENST00000437192.3	37	c.105C>T	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864105	0.17250	0.0	3.72E-4	ENSG00000215131	ENST00000399645	.	.	.	5.7	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0974	9.0821	0.36558	0.592:0.0:0.408:0.0	.	.	.	.	X	44	.	.	R	-	1	2	C16orf90	3484820	0.799000	0.28903	0.976000	0.42696	0.917000	0.54804	-0.431000	0.06965	-0.488000	0.06726	0.591000	0.81541	CGA		0.716	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		35	137	0	0	0	1	0	35	137					A	3544819	G	A	3544819	2	1	79	1	0	0	0	0	0	0	0	1	1848	1140	40	1		1	C16orf90	16	3544819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11277	3544819	86809934	15956	26273											
CLUAP1	23059	broad.mit.edu	37	chr16	3569998	3569998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaaattagaactggaAagaaatcggaagcgactaga	11	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000576634.1	+	7	819	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000571025.1_Silent_p.E225E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	225					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403																																						ENST00000571025.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(673-675)gaA>gaG		clusterin associated protein 1							93	95	94					16																	3569998		2197	4300	6497	SO:0001819	synonymous_variant	23059					nucleus	protein binding	g.chr16:3569998A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.675A>G	16.37:g.3569998A>G						CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000341633.5_Silent_p.E225E|CLUAP1_ENST00000576634.1_Silent_p.E225E|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000572600.1_Silent_p.E59E	p.E225E			Q96AJ1	CLUA1_HUMAN			7	725	+			225					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	c.675A>G	CCDS32381.1																																																																																				0.403	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		116	462	0	0	0	1	0	116	462					G	3569998	A	G	3569998	2	3	79	1	0	0	0	0	0	0	0	1	3578	11	1	4		4	CLUAP1	16	3569998	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25179	3569998	86784755	15957	26274											
NLRC3	197358	broad.mit.edu	37	chr16	3613437	3613437	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgcctgcatggcccGctgggctgcgctcctgaaat	12	15	1	1	rs370250460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCATGGCCCGCTGGGCTGCG	0.657																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							10	12	11					16																	3613437		2053	4180	6233			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613437G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613437G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1906	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	G	14.23	2.472651	0.43942	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.09	-1.14	0.09741	.	0.068615	0.64402	D	0.000017	D	0.89350	0.6690	.	.	.	0.23981	N	0.996276	D	0.76494	0.999	P	0.61477	0.889	D	0.84616	0.0681	9	0.87932	D	0	.	14.2232	0.65841	0.0:0.0:0.4064:0.5936	.	548	C9JLH9	.	W	501;501;501;548;483	ENSP00000301749:R501W;ENSP00000352039:R501W;ENSP00000414415:R548W;ENSP00000323897:R483W	ENSP00000301749:R501W	R	-	1	2	NLRC3	3553438	0.994000	0.37717	0.991000	0.47740	0.990000	0.78478	0.261000	0.18442	0.169000	0.19679	-0.152000	0.13540	CGG		0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		16	39	0	0	0	1	0	16	39					A	3613437	G	A	3613437	1	1	79	0	1	0	0	0	0	0	0	0	10510	1086	38	1		1	NLRC3	16	3613437	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43439	3613437	86741316	15958	26275											
NLRC3	197358	broad.mit.edu	37	chr16	3614177	3614177	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccggaaagaggttgccaCggatgatgttggtgatcagg	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGCCACGGATGATGTT	0.602																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							68	75	73					16																	3614177		2019	4173	6192			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614177C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614177C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1166	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	16.94	3.259544	0.59321	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.89065	0.6609	.	.	.	0.27180	N	0.960699	D	0.89917	1.0	D	0.91635	0.999	D	0.83701	0.0182	9	0.72032	D	0.01	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	301	C9JLH9	.	H	254;254;254;301;236	ENSP00000301749:R254H;ENSP00000352039:R254H;ENSP00000414415:R301H;ENSP00000323897:R236H	ENSP00000301749:R254H	R	-	2	0	NLRC3	3554178	1.000000	0.71417	0.620000	0.29132	0.359000	0.29487	4.890000	0.63178	2.273000	0.75805	0.655000	0.94253	CGT		0.602	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		11	180	0	0	0	1	0	11	180					T	3614177	C	T	3614177	1	4	79	0	1	0	0	0	0	0	0	0	10510	536	19	1		1	NLRC3	16	3614177	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	3614177	86740576	15959	26276											
NLRC3	197358	broad.mit.edu	37	chr16	3614447	3614447	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccttgccgacctgcccaTgggcccagaggcggacgaag	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCTGCCCATGGGCCCAGAG	0.652																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							41	50	47					16																	3614447		2047	4174	6221			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614447T>C	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614447T>C						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	896	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104095	0.00356	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.93	0.605	0.17553	.	0.490181	0.20083	N	0.099603	T	0.61160	0.2325	.	.	.	0.19300	N	0.99997	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	0.14252	T	0.57	.	7.8904	0.29675	0.0:0.6419:0.0:0.3581	.	211	C9JLH9	.	R	164;164;164;211;146	ENSP00000301749:H164R;ENSP00000352039:H164R;ENSP00000414415:H211R;ENSP00000323897:H146R	ENSP00000301749:H164R	H	-	2	0	NLRC3	3554448	0.001000	0.12720	0.194000	0.23346	0.894000	0.52154	-0.131000	0.10482	0.138000	0.18790	-0.177000	0.13119	CAT		0.652	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		71	286	0	0	0	1	0	71	286					C	3614447	T	C	3614447	1	2	79	0	1	0	0	0	0	0	0	0	10510	1464	51	4		4	NLRC3	16	3614447	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	270	3614447	86740306	15960	26277											
BTBD12	84464	broad.mit.edu	37	chr16	3639877	3639877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtggcgggcaccagccaCgaggtgtctgtggtgctggc	20	10	1	0	rs3810814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3639877C>T	ENST00000294008.3	-	12	4402	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1254	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCAGCCACGAGGTGTCTG	0.677								Direct reversal of damage					C|||	6	0.00119808	0.0	0.0	5008	,	,		13227	0.006		0.0	False		,,,				2504	0.0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3760-3762)tcG>tcA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C		1,4391		0,1,2195	30	36	34		3762	-12.1	0	16	dbSNP_107	34	0,8592		0,0,4296	no	coding-synonymous	SLX4	NM_032444.2		0,1,6491	TT,TC,CC		0.0,0.0228,0.0077		1254/1835	3639877	1,12983	2196	4296	6492	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639877C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3762G>A	16.37:g.3639877C>T							p.S1254S	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4402	-			1254			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3762G>A	CCDS10506.2																																																																																				0.677	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		111	426	0	0	0	1	0	111	426					T	3639877	C	T	3639877	2	4	79	1	0	0	0	0	0	0	0	1	1544	523	19	1		1	BTBD12	16	3639877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25430	3639877	86714876	15961	26278											
BTBD12	84464	broad.mit.edu	37	chr16	3640331	3640331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactccagcacggaccgaCgctctttgcctttctggtgc	10	15	2	0	rs201618094		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640331C>T	ENST00000294008.3	-	12	3948	c.3308G>A	c.(3307-3309)cGt>cAt	p.R1103H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1103	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGACCGACGCTCTTTGCC	0.532								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3307-3309)cGt>cAt	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							117	111	113					16																	3640331		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640331C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3308G>A	16.37:g.3640331C>T	ENSP00000294008:p.Arg1103His						p.R1103H	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3948	-			1103			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3308G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	6.582	0.475802	0.12521	.	.	ENSG00000188827	ENST00000294008	T	0.18502	2.21	5.32	-1.72	0.08107	.	1.886240	0.01875	N	0.037469	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21484	-1.0244	10	0.40728	T	0.16	.	0.6741	0.00864	0.2592:0.3307:0.1152:0.2949	.	1103	Q8IY92	SLX4_HUMAN	H	1103	ENSP00000294008:R1103H	ENSP00000294008:R1103H	R	-	2	0	SLX4	3580332	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.256000	0.08757	-0.591000	0.05859	0.655000	0.94253	CGT		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		137	662	0	0	0	1	0	137	662					T	3640331	C	T	3640331	3	4	79	1	0	0	0	0	1	0	0	0	1544	536	19	1	2212	1	BTBD12	16	3640331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454	3640331	86714422	15962	26279											
BTBD12	84464	broad.mit.edu	37	chr16	3640459	3640459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagttccgccacgggaCcggggtgttgacagggacga	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640459C>T	ENST00000294008.3	-	12	3820	c.3180G>A	c.(3178-3180)cgG>cgA	p.R1060R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1060	Interaction with PLK1 and TERF2-TERF2IP.		R -> W. {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCCACGGGACCGGGGTGTTG	0.632								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3178-3180)cgG>cgA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							83	93	89					16																	3640459		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640459C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3180G>A	16.37:g.3640459C>T							p.R1060R	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3820	-			1060			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3180G>A	CCDS10506.2																																																																																				0.632	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		172	666	0	0	0	1	0	172	666					T	3640459	C	T	3640459	2	4	79	1	0	0	0	0	0	0	0	1	1544	494	18	2		2	BTBD12	16	3640459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	3640459	86714294	15963	26280											
BTBD12	84464	broad.mit.edu	37	chr16	3641221	3641221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggccctgctttcgcaattCtctgcttccttctcctccca	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3641221C>A	ENST00000294008.3	-	12	3058	c.2418G>T	c.(2416-2418)gaG>gaT	p.E806D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	806	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCGCAATTCTCTGCTTCCT	0.532								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2416-2418)gaG>gaT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							127	133	131					16																	3641221		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641221C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2418G>T	16.37:g.3641221C>A	ENSP00000294008:p.Glu806Asp		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	612		p.E806D	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3058	-			806			Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2418G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108645	0.56291	.	.	ENSG00000188827	ENST00000294008	T	0.01295	5.04	5.57	-0.0272	0.13927	.	0.699397	0.14214	N	0.333876	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.47086	-0.9144	10	0.48119	T	0.1	.	2.4889	0.04605	0.1195:0.3225:0.351:0.2071	.	806	Q8IY92	SLX4_HUMAN	D	806	ENSP00000294008:E806D	ENSP00000294008:E806D	E	-	3	2	SLX4	3581222	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.177000	0.09796	0.026000	0.15269	0.561000	0.74099	GAG		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		129	607	1	0	7.75303e-77	1	9.89694e-77	129	607					A	3641221	C	A	3641221	3	1	79	1	0	0	0	0	1	0	0	0	1544	912	32	3	3102	3	BTBD12	16	3641221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762	3641221	86713532	15964	26281											
TRAP1	10131	broad.mit.edu	37	chr16	3713514	3713514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcttgtcaaactcaCgaaggtgcagcagggtgagc	12	10	4	1	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	ENST00000246957.5	-	14	1707	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R331H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	540					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCAAACTCACGAAGGTGCAG	0.567																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(991-993)cGt>cAt		TNF receptor-associated protein 1							125	116	119					16																	3713514		2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3713514C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1619G>A	16.37:g.3713514C>T	ENSP00000246957:p.Arg540His					TRAP1_ENST00000246957.5_Missense_Mutation_p.R540H|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|DNASE1_ENST00000575152.1_3'UTR	p.R331H			Q12931	TRAP1_HUMAN			9	1721	-		Ovarian(90;0.0261)	540					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.992G>A	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236201	0.58886	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.83	4.88	0.63580	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.52266	1.64	0.58432	D	0.999999	B;B	0.16396	0.013;0.017	B;B	0.16289	0.008;0.015	T	0.07770	-1.0755	10	0.12430	T	0.62	-9.1608	14.3252	0.66515	0.0:0.9286:0.0:0.0714	.	487;540	F5H897;Q12931	.;TRAP1_HUMAN	H	540;487	ENSP00000246957:R540H;ENSP00000442070:R487H	ENSP00000246957:R540H	R	-	2	0	TRAP1	3653515	0.724000	0.28038	0.195000	0.23364	0.957000	0.61999	3.333000	0.52090	1.474000	0.48178	0.557000	0.71058	CGT		0.567	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		51	490	0	0	0	1	0	51	490					T	3713514	C	T	3713514	3	4	79	1	0	0	0	0	1	0	0	0	16508	536	19	1	515	1	TRAP1	16	3713514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72293	3713514	86641239	15965	26282											
TRAP1	10131	broad.mit.edu	37	chr16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagcctgcgcgacgtagCggtagaactcctcatgttgc	13	12	1	2	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000246957.5	-	9	1035	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000575671.1_Missense_Mutation_p.R107H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	316					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(319-321)cGc>cAc		TNF receptor-associated protein 1		C	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	190	110	137		947	5.8	1	16	dbSNP_134	137	0,8600		0,0,4300	no	missense	TRAP1	NM_016292.2	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	316/705	3724437	2,12992	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3724437C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.947G>A	16.37:g.3724437C>T	ENSP00000246957:p.Arg316His					TRAP1_ENST00000246957.5_Missense_Mutation_p.R316H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H	p.R107H			Q12931	TRAP1_HUMAN			4	1049	-		Ovarian(90;0.0261)	316					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.320G>A	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000810	0.74818	4.55E-4	0.0	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09630	2.96;2.96	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.65677	2.01	0.80722	D	1	P;P	0.51449	0.933;0.945	P;P	0.57324	0.586;0.818	T	0.00198	-1.1929	10	0.72032	D	0.01	-28.6882	19.0936	0.93240	0.0:1.0:0.0:0.0	.	263;316	F5H897;Q12931	.;TRAP1_HUMAN	H	316;263	ENSP00000246957:R316H;ENSP00000442070:R263H	ENSP00000246957:R316H	R	-	2	0	TRAP1	3664438	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC		0.607	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		31	205	0	0	0	1	0	31	205					T	3724437	C	T	3724437	3	4	79	1	0	0	0	0	1	0	0	0	16508	768	27	1	1207	1	TRAP1	16	3724437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10923	3724437	86630316	15966	26283											
TRAP1	10131	broad.mit.edu	37	chr16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctggggcccaactgggCtgtggtcctccgaggacaca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	41					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(121-123)Gcc>Tcc		TNF receptor-associated protein 1							70	65	67					16																	3740954		2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3740954C>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.121G>T	16.37:g.3740954C>A	ENSP00000246957:p.Ala41Ser		OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	613	TRAP1_ENST00000538171.1_Intron	p.A41S	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			2	209	-		Ovarian(90;0.0261)	41					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.121G>T	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129480	0.56721	.	.	ENSG00000126602	ENST00000246957	T	0.14022	2.54	5.61	3.63	0.41609	.	1.396980	0.04856	N	0.443279	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.36615	T	0.2	-15.4687	5.0127	0.14321	0.1384:0.5165:0.2688:0.0764	.	41	Q12931	TRAP1_HUMAN	S	41	ENSP00000246957:A41S	ENSP00000246957:A41S	A	-	1	0	TRAP1	3680955	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.159000	0.10056	0.703000	0.31848	0.655000	0.94253	GCC		0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		48	224	1	0	5.85753e-14	1	6.34509e-14	48	224					A	3740954	C	A	3740954	3	1	79	1	0	0	0	0	1	0	0	0	16508	797	28	3	2061	3	TRAP1	16	3740954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16517	3740954	86613799	15967	26284											
CREBBP	1387	broad.mit.edu	37	chr16	3778862	3778862	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgcagagcgctgggtgaGatgctcctgggtggctgcac	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2062					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTGGGTGAGATGCTCCTGG	0.652			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6184-6186)atC>atT		CREB binding protein																																				SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778862G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6186C>T	16.37:g.3778862G>A						CREBBP_ENST00000382070.3_Silent_p.I2024I	p.I2062I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6995	-		Ovarian(90;0.0266)	2062					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6186C>T	CCDS10509.1																																																																																				0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		26	399	0	0	0	1	0	26	399					A	3778862	G	A	3778862	2	1	79	1	0	0	0	0	0	0	0	1	3870	932	33	2		2	CREBBP	16	3778862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37908	3778862	86575891	15968	26285											
CREBBP	1387	broad.mit.edu	37	chr16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgcgaggaatggtacacaGctgcttcccatagcagcaca	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1218	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGTACACAGCTGCTTCCCA	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3652-3654)Ctg>Atg		CREB binding protein							68	59	62					16																	3807335		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807335G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3652C>A	16.37:g.3807335G>T	ENSP00000262367:p.Leu1218Met					CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	p.L1218M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	19	4461	-		Ovarian(90;0.0266)	1218			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3652C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328756	0.41197	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85013	-1.93;-1.86	6.04	5.0	0.66597	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.64402	D	0.000017	D	0.89649	0.6776	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88591	0.3143	10	0.36615	T	0.2	-20.96	14.8977	0.70656	0.073:0.0:0.927:0.0	.	1248;1218	Q4LE28;Q92793	.;CBP_HUMAN	M	1218;1248;1180	ENSP00000262367:L1218M;ENSP00000371502:L1180M	ENSP00000262367:L1218M	L	-	1	2	CREBBP	3747336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.405000	0.46838	0.563000	0.77884	CTG		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		19	85	1	0	1.96292e-10	1	2.08093e-10	19	85					T	3807335	G	T	3807335	3	4	79	1	0	0	0	0	1	0	0	0	3870	962	34	3	3728	3	CREBBP	16	3807335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28473	3807335	86547418	15969	26286											
ADCY9	115	broad.mit.edu	37	chr16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgatccactccagcaggCgcttggtgcaggccatgacg	14	14	0	1	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2560-2562)cGc>cAc		adenylate cyclase 9		C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	60	60	60		2561	2.1	1	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	29	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	854/1354	4029235	1,12993	2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4029235C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2561G>A	16.37:g.4029235C>T	ENSP00000294016:p.Arg854His						p.R854H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			8	3099	-			854					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2561G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	ADCY9	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			73	351	0	0	0	1	0	73	351					T	4029235	C	T	4029235	3	4	79	1	0	0	0	0	1	0	0	0	301	768	27	1	1516	1	ADCY9	16	4029235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221900	4029235	86325518	15970	26287											
ADCY9	115	broad.mit.edu	37	chr16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaccggtcatctaagtAttttgcggtggcctcagaaa	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	538					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCATCTAAGTATTTTGCGGTG	0.498																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1612-1614)Tac>Cac		adenylate cyclase 9							117	113	114					16																	4163832		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163832A>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1612T>C	16.37:g.4163832A>G	ENSP00000294016:p.Tyr538His						p.Y538H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	2150	-			538					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1612T>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653982	0.47362	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.063531	0.64402	D	0.000003	T	0.80265	0.4591	N	0.16478	0.41	0.50813	D	0.999899	D	0.69078	0.997	D	0.63488	0.915	T	0.79562	-0.1752	10	0.29301	T	0.29	.	15.4464	0.75235	1.0:0.0:0.0:0.0	.	538	O60503	ADCY9_HUMAN	H	538	ENSP00000294016:Y538H	ENSP00000294016:Y538H	Y	-	1	0	ADCY9	4103833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.064000	0.61679	0.454000	0.30748	TAC		0.498	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			138	519	0	0	0	1	0	138	519					G	4163832	A	G	4163832	3	3	79	1	0	0	0	0	1	0	0	0	301	449	16	4	2489	4	ADCY9	16	4163832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134597	4163832	86190921	15971	26288											
ADCY9	115	broad.mit.edu	37	chr16	4164631	4164631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggccccggctccgggCgaggggaagcaggcttcatc	17	13	1	0	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	271					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCTCCGGGCGAGGGGAAGC	0.617													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17919	0.0		0.0	False		,,,				2504	0.0					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(811-813)tcG>tcA		adenylate cyclase 9		C		25,4369		0,25,2172	29	29	29		813	-4.5	0	16	dbSNP_134	29	0,8598		0,0,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,25,6471	TT,TC,CC		0.0,0.569,0.1924		271/1354	4164631	25,12967	2197	4299	6496	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164631C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.813G>A	16.37:g.4164631C>T							p.S271S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1351	-			271					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.813G>A	CCDS32382.1																																																																																				0.617	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			68	272	0	0	0	1	0	68	272					T	4164631	C	T	4164631	2	4	79	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4164631	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799	4164631	86190122	15972	26289											
GLIS2	84662	broad.mit.edu	37	chr16	4382440	4382440	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacacctggctctccaggCtccccgccctcaggtactgg	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4382440C>G	ENST00000262366.3	+	3	980	c.159C>G	c.(157-159)ggC>ggG	p.G53G	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.G53G			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	53	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTCTCCAGGCTCCCCGCCCT	0.652																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(157-159)ggC>ggG		GLIS family zinc finger 2							23	24	24					16																	4382440		2193	4295	6488	SO:0001819	synonymous_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4382440C>G	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.159C>G	16.37:g.4382440C>G						PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.G53G	p.G53G			Q9BZE0	GLIS2_HUMAN			3	980	+			53			Interaction with CTNND1 (By similarity).		B3KX84	Silent	SNP	ENST00000262366.3	37	c.159C>G	CCDS10511.1																																																																																				0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		34	104	0	0	0	1	0	34	104					G	4382440	C	G	4382440	2	3	79	1	0	0	0	0	0	0	0	1	6475	784	28	5		5	GLIS2	16	4382440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217809	4382440	85972313	15973	26290											
GLIS2	84662	broad.mit.edu	37	chr16	4383390	4383390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagaaggtggagggacGcttttcagcagcccctctcg	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4383390G>A	ENST00000262366.3	+	4	1036	c.215G>A	c.(214-216)cGc>cAc	p.R72H	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.R72H			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	72	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTGGAGGGACGCTTTTCAGCA	0.632																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(214-216)cGc>cAc		GLIS family zinc finger 2							47	38	41					16																	4383390		2196	4298	6494	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4383390G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.215G>A	16.37:g.4383390G>A	ENSP00000262366:p.Arg72His					PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.R72H	p.R72H			Q9BZE0	GLIS2_HUMAN			4	1036	+			72			Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).		B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.215G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864946	0.51482	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.11385	2.78;2.78	5.07	5.07	0.68467	.	0.208155	0.43110	N	0.000606	T	0.15739	0.0379	N	0.12182	0.205	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.15235	-1.0444	10	0.38643	T	0.18	.	14.0367	0.64649	0.0:0.0:1.0:0.0	.	72	Q9BZE0	GLIS2_HUMAN	H	72	ENSP00000262366:R72H;ENSP00000395547:R72H	ENSP00000262366:R72H	R	+	2	0	GLIS2	4323391	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.523000	0.45580	2.371000	0.80710	0.555000	0.69702	CGC		0.632	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		13	190	0	0	0	1	0	13	190					A	4383390	G	A	4383390	3	1	79	1	0	0	0	0	1	0	0	0	6475	1087	38	1	221	1	GLIS2	16	4383390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	950	4383390	85971363	15974	26291											
GLIS2	84662	broad.mit.edu	37	chr16	4386911	4386911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggcccatggccactttGtgtcccacgagcagcaagag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4386911G>A	ENST00000262366.3	+	8	1782	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	321					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGCCACTTTGTGTCCCACGA	0.652																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(961-963)Gtg>Atg		GLIS family zinc finger 2							63	52	56					16																	4386911		2196	4297	6493	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4386911G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.961G>A	16.37:g.4386911G>A	ENSP00000262366:p.Val321Met					RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M	p.V321M			Q9BZE0	GLIS2_HUMAN			8	1782	+			321					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.961G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181623	0.78677	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.12361	2.69;2.69	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.12008	0.0292	N	0.24115	0.695	0.80722	D	1	P	0.45715	0.865	P	0.45913	0.497	T	0.02574	-1.1139	10	0.41790	T	0.15	.	9.0002	0.36077	0.157:0.0:0.843:0.0	.	321	Q9BZE0	GLIS2_HUMAN	M	321	ENSP00000262366:V321M;ENSP00000395547:V321M	ENSP00000262366:V321M	V	+	1	0	GLIS2	4326912	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	6.081000	0.71309	2.755000	0.94549	0.655000	0.94253	GTG		0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		32	161	0	0	0	1	0	32	161					A	4386911	G	A	4386911	3	1	79	1	0	0	0	0	1	0	0	0	6475	1377	48	2	983	2	GLIS2	16	4386911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3521	4386911	85967842	15975	26292											
CORO7	79585	broad.mit.edu	37	chr16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagggttgagggagCcacgtccaggcccaacactg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	730					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTGAGGGAGCCACGTCCAGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2188-2190)Gct>Act		coronin 7							34	38	37					16																	4409543		2197	4298	6495	SO:0001583	missense	79585							g.chr16:4409543C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2188G>A	16.37:g.4409543C>T	ENSP00000251166:p.Ala730Thr		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	p.A730T	NM_024535.4	NP_078811.3					22	2333	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2188G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990845	0.74703	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	1.895140	0.02286	N	0.069820	T	0.61825	0.2378	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.989;0.99	P;D;D;P;P	0.91635	0.796;0.999;0.993;0.824;0.897	T	0.18209	-1.0344	10	0.52906	T	0.07	-16.4401	14.1279	0.65233	0.1503:0.8497:0.0:0.0	.	645;712;510;730;711	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	T	730;645;510	ENSP00000251166:A730T;ENSP00000446221:A510T	ENSP00000251166:A730T	A	-	1	0	CORO7	4349544	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	4.287000	0.59001	2.649000	0.89929	0.655000	0.94253	GCT		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		41	239	0	0	0	1	0	41	239					T	4409543	C	T	4409543	3	4	79	1	0	0	0	0	1	0	0	0	3768	739	26	2	617	2	CORO7	16	4409543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22632	4409543	85945210	15976	26293											
DNAJA3	9093	broad.mit.edu	37	chr16	4491569	4491569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccgtgtttgatcagcCtcaggaagtaagttcctcac	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4491569C>A	ENST00000262375.6	+	4	700	c.623C>A	c.(622-624)cCt>cAt	p.P208H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	208					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGATCAGCCTCAGGAAGTA	0.428																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(622-624)cCt>cAt		DnaJ (Hsp40) homolog, subfamily A, member 3							58	58	58					16																	4491569		2197	4300	6497	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4491569C>A	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.623C>A	16.37:g.4491569C>A	ENSP00000262375:p.Pro208His					DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H	p.P208H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			4	700	+			208					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.623C>A	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705733	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66280	-0.2;-0.19;0.88	5.79	4.83	0.62350	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.997;0.993;0.999	P;D;P	0.64595	0.864;0.927;0.907	T	0.78099	-0.2336	10	0.72032	D	0.01	-9.1381	14.4155	0.67148	0.0:0.928:0.0:0.072	.	55;208;208	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	208;208;55	ENSP00000262375:P208H;ENSP00000347445:P208H;ENSP00000393970:P55H	ENSP00000262375:P208H	P	+	2	0	DNAJA3	4431570	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.768000	0.85345	2.752000	0.94435	0.558000	0.71614	CCT		0.428	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			12	263	1	0	0.38729	1	0.387367	12	263					A	4491569	C	A	4491569	3	1	79	1	0	0	0	0	1	0	0	0	4629	681	24	3	637	3	DNAJA3	16	4491569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82026	4491569	85863184	15977	26294											
MGRN1	23295	broad.mit.edu	37	chr16	4732890	4732890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctccgaggacgtggaCgcccctcccccactgggtgg	13	16	1	0	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	475					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1423-1425)gaC>gaT		mahogunin ring finger 1, E3 ubiquitin protein ligase		C	,,,	2,3910		0,2,1954	31	33	33		1359,1425,1359,1425	-10	0	16	dbSNP_129	33	2,8278		0,2,4138	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,4,6092	TT,TC,CC		0.0242,0.0511,0.0328	,,,	453/555,475/553,453/531,475/577	4732890	4,12188	1956	4140	6096	SO:0001819	synonymous_variant	0				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4732890C>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1425C>T	16.37:g.4732890C>T						MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000588994.1_Silent_p.D453D	p.D475D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			14	1518	+			475					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.1425C>T	CCDS45402.1																																																																																				0.701	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			27	111	0	0	0	1	0	27	111					T	4732890	C	T	4732890	2	4	79	1	0	0	0	0	0	0	0	1	9600	535	19	1		1	MGRN1	16	4732890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241321	4732890	85621863	15978	26295											
ANKS3	124401	broad.mit.edu	37	chr16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgggccactcaccatagCgaggccgtggggctctgccg	15	15	2	0	rs373599022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(862-864)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 3		C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	71	76	74		542,863	1.7	0	16		74	0,8598		0,0,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	29,29	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	181/550,288/657	4755101	1,12989	2196	4299	6495	SO:0001583	missense	124401							g.chr16:4755101C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.863G>A	16.37:g.4755101C>T	ENSP00000304586:p.Arg288His					ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H	p.R288H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			8	1157	-			288					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.863G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992886	0.35131	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.36;3.11;0.89	5.94	1.73	0.24493	.	1.311960	0.04445	N	0.371542	T	0.35624	0.0938	L	0.40543	1.245	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.12837	0.008;0.0	T	0.25537	-1.0129	10	0.45353	T	0.12	-2.6572	7.2688	0.26244	0.0:0.6024:0.2561:0.1414	.	82;288	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	H	288;159;82	ENSP00000304586:R288H;ENSP00000406796:R159H;ENSP00000388270:R82H	ENSP00000304586:R288H	R	-	2	0	ANKS3	4695102	0.004000	0.15560	0.000000	0.03702	0.096000	0.18686	0.356000	0.20181	0.103000	0.17682	0.563000	0.77884	CGC		0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		68	801	0	0	0	1	0	68	801					T	4755101	C	T	4755101	3	4	79	1	0	0	0	0	1	0	0	0	690	768	27	1	1147	1	ANKS3	16	4755101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	4755101	85599652	15979	26296											
ANKS3	124401	broad.mit.edu	37	chr16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgggtacctgggctcCgatagaggctcttgggcaga	17	8	1	2	rs372034547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(700-702)cGg>cAg		ankyrin repeat and sterile alpha motif domain containing 3		C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	86	67	73		380,701	4.7	1	16		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	43,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	127/550,234/657	4764060	1,12993	2197	4300	6497	SO:0001583	missense	124401							g.chr16:4764060C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.701G>A	16.37:g.4764060C>T	ENSP00000304586:p.Arg234Gln					ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q	p.R234Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			7	995	-			234					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.701G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909587	0.92107	0.0	1.16E-4	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.52754	1.21;2.98;0.65	4.74	4.74	0.60224	.	0.393434	0.23023	N	0.052828	T	0.66107	0.2756	M	0.69823	2.125	0.40360	D	0.979238	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.944	T	0.67902	-0.5550	10	0.48119	T	0.1	-7.6051	14.5727	0.68224	0.0:1.0:0.0:0.0	.	28;234	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	Q	234;105;28	ENSP00000304586:R234Q;ENSP00000406796:R105Q;ENSP00000388270:R28Q	ENSP00000304586:R234Q	R	-	2	0	ANKS3	4704061	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.192000	0.58378	2.472000	0.83506	0.561000	0.74099	CGG		0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		65	257	0	0	0	1	0	65	257					T	4764060	C	T	4764060	3	4	79	1	0	0	0	0	1	0	0	0	690	652	23	1	1313	1	ANKS3	16	4764060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8959	4764060	85590693	15980	26297											
ANKS3	124401	broad.mit.edu	37	chr16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaaatactgcacgattatCtcatggccagcagcagctgc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	182										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCACGATTATCTCATGGCCAG	0.438																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(544-546)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 3							81	71	74					16																	4774778		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4774778C>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.546G>T	16.37:g.4774778C>A	ENSP00000304586:p.Glu182Asp					ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	p.E182D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			6	840	-			182					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.546G>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787099	0.70337	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65549	-0.16;-0.1	5.51	-0.996	0.10218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.64922	-0.6293	10	0.40728	T	0.16	-3.7901	11.9999	0.53224	0.0:0.6751:0.0:0.3249	.	182	Q6ZW76	ANKS3_HUMAN	D	182;53	ENSP00000304586:E182D;ENSP00000406796:E53D	ENSP00000304586:E182D	E	-	3	2	ANKS3	4714779	1.000000	0.71417	0.763000	0.31416	0.888000	0.51559	0.937000	0.28951	-0.032000	0.13758	-0.345000	0.07892	GAG		0.438	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		11	218	1	0	3.86212e-05	1	3.93988e-05	11	218					A	4774778	C	A	4774778	3	1	79	1	0	0	0	0	1	0	0	0	690	912	32	3	1472	3	ANKS3	16	4774778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10718	4774778	85579975	15981	26298											
ANKS3	124401	broad.mit.edu	37	chr16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaccacttcatactggCcaatggaagcagctgtgtga	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D|RP11-127I20.7_ENST00000588099.1_RNA	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(136-138)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 3							177	158	164					16																	4780014		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4780014C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.137G>A	16.37:g.4780014C>T	ENSP00000304586:p.Gly46Asp					ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	p.G46D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			3	431	-			46					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.137G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951772	0.92660	.	.	ENSG00000168096	ENST00000304283	T	0.62232	0.04	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	10	0.72032	D	0.01	-1.4544	19.0811	0.93182	0.0:1.0:0.0:0.0	.	46	Q6ZW76	ANKS3_HUMAN	D	46	ENSP00000304586:G46D	ENSP00000304586:G46D	G	-	2	0	ANKS3	4720015	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.466000	0.80914	2.756000	0.94617	0.561000	0.74099	GGC		0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		145	792	0	0	0	1	0	145	792					T	4780014	C	T	4780014	3	4	79	1	0	0	0	0	1	0	0	0	690	739	26	2	1893	2	ANKS3	16	4780014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5236	4780014	85574739	15982	26299											
C16orf71	146562	broad.mit.edu	37	chr16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctccctgggcctcccagAtggggccctgggatgccatc	13	16	1	1	rs201035593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000299320.5	+	2	536	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	ANKS3_ENST00000585773.1_5'Flank|ANKS3_ENST00000450067.2_5'Flank|ANKS3_ENST00000592711.1_5'Flank|ANKS3_ENST00000304283.4_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(58-60)Atg>Ctg		chromosome 16 open reading frame 71							67	66	66					16																	4786573		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4786573A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.58A>C	16.37:g.4786573A>C	ENSP00000299320:p.Met20Leu					C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|RP11-127I20.7_ENST00000588099.1_RNA	p.M20L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			2	536	+			20					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.58A>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.209884	0.01555	.	.	ENSG00000166246	ENST00000299320	T	0.11604	2.76	1.47	0.336	0.15958	.	0.941963	0.08679	U	0.909651	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43426	-0.9392	10	0.25106	T	0.35	.	4.0857	0.09947	0.5859:0.0:0.4141:0.0	.	20	Q8IYS4	CP071_HUMAN	L	20	ENSP00000299320:M20L	ENSP00000299320:M20L	M	+	1	0	C16orf71	4726574	0.005000	0.15991	0.126000	0.21872	0.014000	0.08584	0.408000	0.21065	0.079000	0.16929	-0.441000	0.05720	ATG		0.592	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		79	315	0	0	0	1	0	79	315					C	4786573	A	C	4786573	3	2	79	1	0	0	0	0	1	0	0	0	1835	333	12	4	60	4	C16orf71	16	4786573	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6559	4786573	85568180	15983	26300											
C16orf71	146562	broad.mit.edu	37	chr16	4790160	4790160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttttcttgacagccagttCtggtgcctgcagaattggcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000299320.5	+	4	761	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(283-285)Ctg>Ttg		chromosome 16 open reading frame 71							80	82	82					16																	4790160		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4790160C>T	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.283C>T	16.37:g.4790160C>T						C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	p.L95L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			4	761	+			95					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.283C>T	CCDS10521.1																																																																																				0.423	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		27	570	0	0	0	1	0	27	570					T	4790160	C	T	4790160	2	4	79	1	0	0	0	0	0	0	0	1	1835	912	32	2		2	C16orf71	16	4790160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3587	4790160	85564593	15984	26301											
UBN1	29855	broad.mit.edu	37	chr16	4902975	4902975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttccctgaatcctgcGtttttgaagaagtcccggaa	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	19	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(55-57)gcG>gcA		ubinuclein 1							73	73	73					16																	4902975		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4902975G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.57G>A	16.37:g.4902975G>A						UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A	p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			1	760	+			19			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.57G>A	CCDS10525.1																																																																																				0.567	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		34	388	0	0	0	1	0	34	388					A	4902975	G	A	4902975	2	1	79	1	0	0	0	0	0	0	0	1	16946	1132	40	1		1	UBN1	16	4902975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112815	4902975	85451778	15985	26302											
UBN1	29855	broad.mit.edu	37	chr16	4927465	4927465	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcccacccatatcccgcaGagtctgccaggtaatcaccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3343-3345)caG>caA		ubinuclein 1							112	118	116					16																	4927465		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4927465G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3345G>A	16.37:g.4927465G>A						UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000590769.1_Intron	p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			16	4048	+			1115					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.3345G>A	CCDS10525.1																																																																																				0.642	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		249	987	0	0	0	1	0	249	987					A	4927465	G	A	4927465	2	1	79	1	0	0	0	0	0	0	0	1	16946	933	33	2		2	UBN1	16	4927465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24490	4927465	85427288	15986	26303											
PPL	5493	broad.mit.edu	37	chr16	4934369	4934369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttcttcctgctccagCgctgccagccgctgctgcaa	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCAGCGCTGCCAGCC	0.687																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4285-4287)gcG>gcA		periplakin							54	56	55					16																	4934369		2171	4254	6425	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934369C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4287G>A	16.37:g.4934369C>T						PPL_ENST00000590782.2_Silent_p.A1427A	p.A1429A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4376	-			1429					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4287G>A	CCDS10526.1																																																																																				0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		160	623	0	0	0	1	0	160	623					T	4934369	C	T	4934369	2	4	79	1	0	0	0	0	0	0	0	1	12381	755	27	1		1	PPL	16	4934369	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6904	4934369	85420384	15987	26304											
PPL	5493	broad.mit.edu	37	chr16	4934822	4934822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtttggtgtctttcagGgcctggatttcctttttcag	13	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1278					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTTTCAGGGCCTGGATTT	0.522																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3832-3834)gcC>gcT		periplakin							176	177	177					16																	4934822		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934822G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3834C>T	16.37:g.4934822G>A						PPL_ENST00000590782.2_Silent_p.A1276A	p.A1278A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3923	-			1278					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3834C>T	CCDS10526.1																																																																																				0.522	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		237	927	0	0	0	1	0	237	927					A	4934822	G	A	4934822	2	1	79	1	0	0	0	0	0	0	0	1	12381	1219	43	2		2	PPL	16	4934822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	4934822	85419931	15988	26305											
PPL	5493	broad.mit.edu	37	chr16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccggctcacctttacagCttgctggtactgctgggaat	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	797					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCTTTACAGCTTGCTGGTAC	0.512																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2389-2391)Gct>Tct		periplakin							349	342	344					16																	4938987		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4938987C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2389G>T	16.37:g.4938987C>A	ENSP00000340510:p.Ala797Ser					PPL_ENST00000590782.2_Missense_Mutation_p.A795S	p.A797S	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			19	2478	-			797					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2389G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837230	0.71373	.	.	ENSG00000118898	ENST00000345988	T	0.55052	0.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74256	-0.3724	10	0.59425	D	0.04	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	797	O60437	PEPL_HUMAN	S	797	ENSP00000340510:A797S	ENSP00000340510:A797S	A	-	1	0	PPL	4878988	1.000000	0.71417	0.765000	0.31456	0.118000	0.20060	5.210000	0.65214	2.569000	0.86673	0.555000	0.69702	GCT		0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		446	1873	1	0	2.09492e-81	1	2.68073e-81	446	1873					A	4938987	C	A	4938987	3	1	79	1	0	0	0	0	1	0	0	0	12381	797	28	3	2897	3	PPL	16	4938987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4165	4938987	85415766	15989	26306											
PPL	5493	broad.mit.edu	37	chr16	4945601	4945601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccatcgctcacatccagCtcccgcagcagcagctcaat	9	17	2	0	rs372300152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	ENST00000345988.2	-	10	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PPL_ENST00000590782.2_Silent_p.E361E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	363					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCACATCCAGCTCCCGCAGCA	0.657																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1087-1089)gaG>gaA		periplakin		C		1,4393		0,1,2196	81	65	71		1089	1.3	1	16		71	0,8600		0,0,4300	no	coding-synonymous	PPL	NM_002705.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		363/1757	4945601	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945601C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1089G>A	16.37:g.4945601C>T						PPL_ENST00000590782.2_Silent_p.E361E	p.E363E	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			10	1178	-			363					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.1089G>A	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		15	341	0	0	0	1	0	15	341					T	4945601	C	T	4945601	2	4	79	1	0	0	0	0	0	0	0	1	12381	796	28	2		2	PPL	16	4945601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	4945601	85409152	15990	26307											
SEC14L5	9717	broad.mit.edu	37	chr16	5041991	5041991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggcccacgggccccgTagcaccctggggcccgctct	14	18	1	0	rs373345210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	209						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(625-627)cgT>cgC		SEC14-like 5 (S. cerevisiae)							11	12	12					16																	5041991		1904	4094	5998	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5041991T>C	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.627T>C	16.37:g.5041991T>C							p.R209R	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			6	807	+			209						Silent	SNP	ENST00000251170.7	37	c.627T>C	CCDS45403.1																																																																																				0.697	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			15	44	0	0	0	1	0	15	44					C	5041991	T	C	5041991	2	2	79	1	0	0	0	0	0	0	0	1	14035	1625	57	4		4	SEC14L5	16	5041991	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96390	5041991	85312762	15991	26308											
SEC14L5	9717	broad.mit.edu	37	chr16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagggactcaacatgCggcacctgtggcggccgggg	17	12	1	0	rs369407626		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1171-1173)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)		C	TRP/ARG	0,3876		0,0,1938	41	48	46		1171	1.2	1	16		46	1,8273		0,1,4136	no	missense	SEC14L5	NM_014692.1	101	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	391/697	5053443	1,12149	1938	4137	6075	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053443C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1171C>T	16.37:g.5053443C>T	ENSP00000251170:p.Arg391Trp						p.R391W	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			11	1351	+			391			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1171C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	SEC14L5	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			82	326	0	0	0	1	0	82	326					T	5053443	C	T	5053443	3	4	79	1	0	0	0	0	1	0	0	0	14035	759	27	1	1209	1	SEC14L5	16	5053443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11452	5053443	85301310	15992	26309											
NAGPA	51172	broad.mit.edu	37	chr16	5083700	5083700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgcgcgtggatagGgcagtagcaagtcgtcgtcg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	ENST00000312251.3	-	2	135	c.116C>T	c.(115-117)cCc>cTc	p.P39L	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	39					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(115-117)cCc>cTc		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						6	9	8					16																	5083700		1786	3666	5452	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083700G>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.116C>T	16.37:g.5083700G>A	ENSP00000310998:p.Pro39Leu					NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L	p.P39L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	135	-			39					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.116C>T	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671262	0.88348	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.38240	1.15;1.43	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.96	T	0.63395	-0.6647	10	0.87932	D	0	-24.0811	16.9798	0.86324	0.0:0.0:1.0:0.0	.	39;39	B4DZG9;Q9UK23	.;NAGPA_HUMAN	L	39	ENSP00000310998:P39L;ENSP00000371381:P39L	ENSP00000310998:P39L	P	-	2	0	NAGPA	5023701	1.000000	0.71417	0.967000	0.41034	0.135000	0.20990	7.063000	0.76714	2.414000	0.81942	0.650000	0.86243	CCC		0.761	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		14	92	0	0	0	1	0	14	92					A	5083700	G	A	5083700	3	1	79	1	0	0	0	0	1	0	0	0	10185	1232	43	2	1467	2	NAGPA	16	5083700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30257	5083700	85271053	15993	26310											
A2BP1	54715	broad.mit.edu	37	chr16	7629903	7629903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggttccgggatccggAcctcagacaaatgtttggtg	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7629903A>G	ENST00000550418.1	+	6	1383	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000340209.4_Missense_Mutation_p.D137G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152G|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175G|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152G|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152G|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175G|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D167G	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	132	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGGATCCGGACCTCAGACAA	0.527																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(409-411)gAc>gGc		RNA binding protein, fox-1 homolog (C. elegans) 1							86	80	82					16																	7629903		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629903A>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.395A>G	16.37:g.7629903A>G	ENSP00000450031:p.Asp132Gly					RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175G|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152G|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175G|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152G|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D167G|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132G	p.D137G			Q9NWB1	RFOX1_HUMAN			3	707	+			132			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.410A>G	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045154	0.93685	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.15;2.15;2.15;2.15;2.15;0.98;2.15;2.15;2.15;2.15;2.15;2.15	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.64404	1.975	0.80722	D	1	P;D;D;D;D;P;D;D	0.89917	0.72;0.991;0.999;0.994;0.999;0.923;1.0;0.999	P;D;D;D;D;P;D;D	0.87578	0.779;0.989;0.998;0.98;0.994;0.852;0.997;0.996	T	0.65804	-0.6079	10	0.72032	D	0.01	-19.4393	15.4421	0.75190	1.0:0.0:0.0:0.0	.	152;175;152;152;152;132;132;175	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	G	131;132;132;175;175;167;132;132;152;152;152;152;137	ENSP00000450402:D131G;ENSP00000450031:D132G;ENSP00000447753:D132G;ENSP00000446842:D175G;ENSP00000391269:D175G;ENSP00000448496:D167G;ENSP00000447281:D132G;ENSP00000447717:D132G;ENSP00000402745:D152G;ENSP00000309117:D152G;ENSP00000347855:D152G;ENSP00000344196:D137G	ENSP00000309117:D152G	D	+	2	0	RBFOX1	7569904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.054000	0.61138	0.533000	0.62120	GAC		0.527	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		62	257	0	0	0	1	0	62	257					G	7629903	A	G	7629903	3	3	79	1	0	0	0	0	1	0	0	0	3	275	10	4	496	4	A2BP1	16	7629903	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2546203	7629903	82724850	15994	26311											
A2BP1	54715	broad.mit.edu	37	chr16	7703845	7703845	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgtatccagcagccacCgccgcggccgcctaccgagg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7703845C>A	ENST00000550418.1	+	12	1774	c.786C>A	c.(784-786)acC>acA	p.T262T	RBFOX1_ENST00000547338.1_Silent_p.T262T|RBFOX1_ENST00000340209.4_Silent_p.T267T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000422070.4_Silent_p.T305T|RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000552089.1_Silent_p.T279T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	262					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.T282T(2)|p.T262T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGCAGCCACCGCCGCGGCCG	0.706																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			3	Substitution - coding silent(3)	p.T282T(2)|p.T262T(1)	lung(3)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(799-801)acC>acA		RNA binding protein, fox-1 homolog (C. elegans) 1							15	19	18					16																	7703845		1725	3657	5382	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703845C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.786C>A	16.37:g.7703845C>A						RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000422070.4_Silent_p.T305T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000550418.1_Silent_p.T262T|RBFOX1_ENST00000552089.1_Silent_p.T279T|RBFOX1_ENST00000547338.1_Silent_p.T262T	p.T267T			Q9NWB1	RFOX1_HUMAN			9	1098	+			262					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.801C>A	CCDS55983.1																																																																																				0.706	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		69	248	1	0	3.13765e-25	1	3.59736e-25	69	248					A	7703845	C	A	7703845	2	1	79	1	0	0	0	0	0	0	0	1	3	639	23	3		3	A2BP1	16	7703845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73942	7703845	82650908	15995	26312											
ABAT	18	broad.mit.edu	37	chr16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggggtcatggcctccaTgttgctcgcccagcgcctgg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000396600.2	+	2	949	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_ENST00000425191.2_Missense_Mutation_p.M4R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(10-12)aTg>aGg		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						38	29	32					16																	8829607		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8829607T>G	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.11T>G	16.37:g.8829607T>G	ENSP00000379845:p.Met4Arg					ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000425191.2_Missense_Mutation_p.M4R	p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			2	949	+			4					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.11T>G	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110442	0.20714	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.81739	-1.53;-1.53;-1.53	4.1	2.99	0.34606	.	0.314257	0.35615	N	0.003093	T	0.69771	0.3148	L	0.36672	1.1	0.28748	N	0.901563	B	0.02656	0.0	B	0.01281	0.0	T	0.64317	-0.6436	10	0.62326	D	0.03	-2.3346	8.544	0.33410	0.0:0.0:0.2275:0.7725	.	4	P80404	GABT_HUMAN	R	4	ENSP00000268251:M4R;ENSP00000379845:M4R;ENSP00000411916:M4R	ENSP00000268251:M4R	M	+	2	0	ABAT	8737108	0.998000	0.40836	0.855000	0.33649	0.299000	0.27559	1.916000	0.39986	0.781000	0.33589	0.529000	0.55759	ATG		0.587	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		14	54	0	0	0	1	0	14	54					G	8829607	T	G	8829607	3	3	79	1	0	0	0	0	1	0	0	0	27	1464	51	4	13	4	ABAT	16	8829607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1125762	8829607	81525146	15996	26313											
ABAT	18	broad.mit.edu	37	chr16	8844347	8844347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattacctggttgatgtggaCggcaaccgaatgctggatct	12	8	1	1	rs199666932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8844347C>T	ENST00000396600.2	+	5	1205	c.267C>T	c.(265-267)gaC>gaT	p.D89D	ABAT_ENST00000425191.2_Silent_p.D89D|ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000268251.8_Silent_p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	89					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGATGTGGACGGCAACCGAA	0.468													C|||	9	0.00179712	0.0	0.0	5008	,	,		20866	0.0079		0.001	False		,,,				2504	0.0					ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(265-267)gaC>gaT		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	C	,,	0,4394		0,0,2197	203	182	189		267,267,267	-5.4	0.9	16		189	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	,,	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	,,	89/501,89/501,89/501	8844347	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8844347C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.267C>T	16.37:g.8844347C>T						ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000268251.8_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000425191.2_Silent_p.D89D	p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			5	1205	+			89					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	c.267C>T	CCDS10534.1																																																																																				0.468	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		12	666	0	0	0	1	0	12	666					T	8844347	C	T	8844347	2	4	79	1	0	0	0	0	0	0	0	1	27	535	19	1		1	ABAT	16	8844347	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14740	8844347	81510406	15997	26314											
TMEM186	25880	broad.mit.edu	37	chr16	8890416	8890416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccacacagcttttcccCgaaacctacgcacagctcgg	6	17	0	0	rs147051924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8890416C>T	ENST00000333050.6	-	2	68	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	12						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						AGCTTTTCCCCGAAACCTACG	0.552																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(34-36)cGg>cAg		transmembrane protein 186		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	71	75	74		35	-7.4	0	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	TMEM186	NM_015421.3	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	12/214	8890416	1,12993	2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890416C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.35G>A	16.37:g.8890416C>T	ENSP00000331640:p.Arg12Gln					PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	p.R12Q	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	68	-			12					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.35G>A	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255064	0.22965	2.28E-4	0.0	ENSG00000184857	ENST00000333050	.	.	.	5.05	-7.42	0.01388	.	1.353990	0.05738	N	0.600896	T	0.07548	0.0190	N	0.00926	-1.1	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.25572	-1.0128	9	0.21540	T	0.41	-7.2867	4.1844	0.10392	0.0928:0.1276:0.2435:0.5362	.	12	Q96B77	TM186_HUMAN	Q	12	.	ENSP00000331640:R12Q	R	-	2	0	TMEM186	8797917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-0.985000	0.03503	-0.818000	0.03119	CGG		0.552	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		9	373	0	0	0	1	0	9	373					T	8890416	C	T	8890416	3	4	79	1	0	0	0	0	1	0	0	0	16160	652	23	1	610	1	TMEM186	16	8890416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46069	8890416	81464337	15998	26315											
PMM2	5373	broad.mit.edu	37	chr16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgtctgagctacattgCgaaaattaaactcccgaaga	7	10	1	2	rs200503569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000268261.4	+	4	389	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	108			A -> V (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971223	PMM2	M		c.(322-324)gCg>gTg		phosphomannomutase 2							90	87	88					16																	8900240		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900240C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.323C>T	16.37:g.8900240C>T	ENSP00000268261:p.Ala108Val					PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000537352.1_Intron	p.A108V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	389	+			108		A -> V (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.323C>T	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335558	0.60853	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.98777	-5.13;-5.13	5.56	5.56	0.83823	HAD-like domain (1);	0.152193	0.64402	D	0.000017	D	0.97939	0.9322	M	0.85859	2.78	0.80722	D	1	B;B;P	0.37781	0.033;0.393;0.608	B;B;B	0.31101	0.004;0.124;0.07	D	0.98847	1.0757	10	0.59425	D	0.04	-10.7806	18.5214	0.90954	0.0:1.0:0.0:0.0	.	25;108;108	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	V	108;25	ENSP00000268261:A108V;ENSP00000445879:A25V	ENSP00000268261:A108V	A	+	2	0	PMM2	8807741	0.975000	0.34042	0.250000	0.24296	0.890000	0.51754	2.371000	0.44248	2.608000	0.88229	0.591000	0.81541	GCG		0.408	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		63	268	0	0	0	1	0	63	268					T	8900240	C	T	8900240	3	4	79	1	0	0	0	0	1	0	0	0	12179	768	27	1	337	1	PMM2	16	8900240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9824	8900240	81454513	15999	26316											
CARHSP1	23589	broad.mit.edu	37	chr16	8953039	8953039	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagactcacgccgagaaggtCctcgtccggcgagtgggcag	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_ENST00000567554.1_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	49					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(145-147)agG>agA		calcium regulated heat stable protein 1, 24kDa							27	23	24					16																	8953039		2196	4300	6496	SO:0001819	synonymous_variant	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8953039C>T	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.147G>A	16.37:g.8953039C>T						CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R	p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			2	506	-			49					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Silent	SNP	ENST00000396593.2	37	c.147G>A	CCDS10537.1																																																																																				0.642	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		19	99	0	0	0	1	0	19	99					T	8953039	C	T	8953039	2	4	79	1	0	0	0	0	0	0	0	1	2660	854	30	2		2	CARHSP1	16	8953039	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52799	8953039	81401714	16000	26317											
USP7	7874	broad.mit.edu	37	chr16	8993578	8993578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggaaatactcctttgcGgtgggtaattcactgttatc	9	9	2	0	rs372148483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	782	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCCTTTGCGGTGGGTAATT	0.428																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2344-2346)acC>acT		ubiquitin specific peptidase 7 (herpes virus-associated)		G		1,4393	2.1+/-5.4	0,1,2196	151	132	139		2346	-11.4	0.2	16		139	0,8600		0,0,4300	no	coding-synonymous	USP7	NM_003470.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		782/1103	8993578	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8993578G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2346C>T	16.37:g.8993578G>A						USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	p.T782T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			22	2544	-			782			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2346C>T	CCDS32385.1																																																																																				0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			80	280	0	0	0	1	0	80	280					A	8993578	G	A	8993578	2	1	79	1	0	0	0	0	0	0	0	1	17142	1103	39	1		1	USP7	16	8993578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40539	8993578	81361175	16001	26318											
USP7	7874	broad.mit.edu	37	chr16	8995939	8995939	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtctcgtgggcacttacGatctttatcaaacttgggta	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000381886.4_Splice_Site_p.H667Y|USP7_ENST00000535863.1_Splice_Site_p.H584Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.e18+1		ubiquitin specific peptidase 7 (herpes virus-associated)							121	106	111					16																	8995939		2197	4300	6497	SO:0001630	splice_region_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8995939G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2047+1C>T	16.37:g.8995939G>A						USP7_ENST00000381886.4_Splice_Site_p.H667_splice|USP7_ENST00000535863.1_Splice_Site_p.H584_splice	p.H683_splice	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			18	2245	-			683			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Splice_Site	SNP	ENST00000344836.4	37	c.2047_splice	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001818	0.74932	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.27	5.42	5.42	0.78866	.	0.043956	0.85682	D	0.000000	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	P;P	0.46142	0.873;0.873	B;B	0.19148	0.024;0.024	T	0.50668	-0.8801	9	.	.	.	.	19.2247	0.93814	0.0:0.0:1.0:0.0	.	683;667	Q93009;B7Z815	UBP7_HUMAN;.	Y	683;691;584;584	ENSP00000343535:H683Y;ENSP00000443646:H584Y	.	H	-	1	0	USP7	8903440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.549000	0.85964	0.561000	0.74099	CAT		0.483	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		Missense_Mutation	24	510	0	0	0	1	0	24	510					A	8995939	G	A	8995939	5	1	79	1	0	0	0	0	0	0	1	0	17142	1072	37	1	1317	1	USP7	16	8995939	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2361	8995939	81358814	16002	26319											
USP7	7874	broad.mit.edu	37	chr16	8997161	8997161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaacaaactcagcaagCgaggagttcttcaatacttt	7	10	4	1	rs146507622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8997161C>T	ENST00000344836.4	-	16	2001	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	601					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCAGCAAGCGAGGAGTTCT	0.502																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1801-1803)tcG>tcA		ubiquitin specific peptidase 7 (herpes virus-associated)		C		1,4393	2.1+/-5.4	0,1,2196	150	119	129		1803	-8.9	0.3	16	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP7	NM_003470.2		0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154		601/1103	8997161	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8997161C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1803G>A	16.37:g.8997161C>T						USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	p.S601S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			16	2001	-			601					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.1803G>A	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			8	302	0	0	0	1	0	8	302					T	8997161	C	T	8997161	2	4	79	1	0	0	0	0	0	0	0	1	17142	755	27	1		1	USP7	16	8997161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1222	8997161	81357592	16003	26320											
C16orf72	29035	broad.mit.edu	37	chr16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgcagaagaactattcGtcgagaagatttgatcagct	9	7	1	5	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(415-417)cGt>cAt		chromosome 16 open reading frame 72		G	HIS/ARG	9,4385	15.5+/-35.6	0,9,2188	100	92	95		416	5.8	1	16	dbSNP_134	95	0,8600		0,0,4300	yes	missense	C16orf72	NM_014117.2	29	0,9,6488	AA,AG,GG		0.0,0.2048,0.0693	probably-damaging	139/276	9196949	9,12985	2197	4300	6497	SO:0001583	missense	29035							g.chr16:9196949G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.416G>A	16.37:g.9196949G>A	ENSP00000331720:p.Arg139His						p.R139H	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			3	813	+			139						Missense_Mutation	SNP	ENST00000327827.7	37	c.416G>A	CCDS10538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.379836	0.95945	0.002048	0.0	ENSG00000182831	ENST00000327827	T	0.54479	0.57	5.84	5.84	0.93424	.	0.052554	0.85682	D	0.000000	T	0.74711	0.3752	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75479	-0.3303	10	0.66056	D	0.02	-4.3905	20.1294	0.97995	0.0:0.0:1.0:0.0	.	139	Q14CZ0	CP072_HUMAN	H	139	ENSP00000331720:R139H	ENSP00000331720:R139H	R	+	2	0	C16orf72	9104450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.758000	0.94735	0.591000	0.81541	CGT		0.453	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		80	256	0	0	0	1	0	80	256					A	9196949	G	A	9196949	3	1	79	1	0	0	0	0	1	0	0	0	1836	1145	40	1	426	1	C16orf72	16	9196949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199788	9196949	81157804	16004	26321											
GRIN2A	2903	broad.mit.edu	37	chr16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtttgcttgaggggacaCtaaacaggctgccgtaaaaa	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1330					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)			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)	TGAGGGGACACTAAACAGGCT	0.547																																						ENST00000396573.2																			0				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						c.(3988-3990)aGt>aAt		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79	84	82					16																	9857412		2197	4300	6497	SO:0001583	missense	0				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.chr16:9857412C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3989G>A	16.37:g.9857412C>T	ENSP00000379818:p.Ser1330Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000562109.1_Intron	p.S1330N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4298	-			1330					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3989G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323454	0.10900	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10763	2.84;2.84;2.84	5.47	5.47	0.80525	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.264128	0.48767	D	0.000168	T	0.07098	0.0180	N	0.13043	0.29	0.51233	D	0.999914	B	0.02656	0.0	B	0.10450	0.005	T	0.38650	-0.9651	9	.	.	.	.	13.692	0.62550	0.1541:0.8459:0.0:0.0	.	1330	Q12879	NMDE1_HUMAN	N	1330	ENSP00000379818:S1330N;ENSP00000332549:S1330N;ENSP00000379820:S1330N	.	S	-	2	0	GRIN2A	9764913	0.865000	0.29922	0.070000	0.20053	0.918000	0.54935	1.631000	0.37092	2.741000	0.93983	0.650000	0.86243	AGT		0.547	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			115	445	0	0	0	1	0	115	445					T	9857412	C	T	9857412	3	4	79	1	0	0	0	0	1	0	0	0	6809	565	20	2	409	2	GRIN2A	16	9857412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	660463	9857412	80497341	16005	26322											
GRIN2A	2903	broad.mit.edu	37	chr16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctcctgaagcatctggtCttcatcgatgtcatagaggt	10	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1251			D -> N (in FESD). {ECO:0000269|PubMed:23933820}.		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)			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)	AGCATCTGGTCTTCATCGATG	0.542																																						ENST00000396573.2																			0				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						c.(3751-3753)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						119	110	113					16																	9857650		2197	4300	6497	SO:0001583	missense	0				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.chr16:9857650C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3751G>A	16.37:g.9857650C>T	ENSP00000379818:p.Asp1251Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N	p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4060	-			1251					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3751G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302940	0.81136	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50813	0.73;1.76;1.83;0.73;0.73	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.995	T	0.75102	-0.3436	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1094;1251;1251	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1251;1251;1094;1251;1251	ENSP00000379818:D1251N;ENSP00000385872:D1251N;ENSP00000441572:D1094N;ENSP00000332549:D1251N;ENSP00000379820:D1251N	.	D	-	1	0	GRIN2A	9765151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.365000	0.80145	0.655000	0.94253	GAC		0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			99	398	0	0	0	1	0	99	398					T	9857650	C	T	9857650	3	4	79	1	0	0	0	0	1	0	0	0	6809	913	32	2	647	2	GRIN2A	16	9857650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	9857650	80497103	16006	26323											
GRIN2A	2903	broad.mit.edu	37	chr16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccggggtctagagttcgcTttggattctgtgctcacggc	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1005					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)			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)	TAGAGTTCGCTTTGGATTCTG	0.507																																						ENST00000396573.2																			0				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						c.(3013-3015)aaA>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						95	93	94					16																	9858386		2197	4300	6497	SO:0001583	missense	0				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.chr16:9858386T>G		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.3015A>C	16.37:g.9858386T>G	ENSP00000379818:p.Lys1005Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N	p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3324	-			1005					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3015A>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	6.706	0.498927	0.12762	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.69;2.68;2.68;2.69;2.69	5.33	-2.16	0.07080	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.138656	0.64402	D	0.000005	T	0.13841	0.0335	L	0.51422	1.61	0.29012	N	0.886792	B;P;P	0.39576	0.358;0.679;0.611	B;B;B	0.43413	0.106;0.248;0.419	T	0.11494	-1.0585	9	.	.	.	.	10.8181	0.46589	0.0:0.4309:0.0:0.569	.	848;1005;1005	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1005;1005;848;1005;1005	ENSP00000379818:K1005N;ENSP00000385872:K1005N;ENSP00000441572:K848N;ENSP00000332549:K1005N;ENSP00000379820:K1005N	.	K	-	3	2	GRIN2A	9765887	0.876000	0.30132	0.497000	0.27552	0.541000	0.35023	0.365000	0.20348	-0.475000	0.06852	0.533000	0.62120	AAA		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			112	394	0	0	0	1	0	112	394					G	9858386	T	G	9858386	3	3	79	1	0	0	0	0	1	0	0	0	6809	1606	56	4	1383	4	GRIN2A	16	9858386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	736	9858386	80496367	16007	26324											
GRIN2A	2903	broad.mit.edu	37	chr16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatcccagtgagccacaGggtctccagctcctccatct	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	794					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)			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)	GTGAGCCACAGGGTCTCCAGC	0.557																																						ENST00000396573.2																			0				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						c.(2380-2382)Ctg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						108	90	96					16																	9862923		2197	4300	6497	SO:0001583	missense	0				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.chr16:9862923G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2380C>A	16.37:g.9862923G>T	ENSP00000379818:p.Leu794Met					GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M	p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			13	2689	-			794					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2380C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544199	0.65198	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.068047	0.64402	D	0.000012	T	0.30039	0.0752	N	0.25647	0.755	0.37532	D	0.917965	P;P;P	0.51653	0.835;0.947;0.776	P;P;P	0.59825	0.676;0.864;0.567	T	0.08848	-1.0702	9	.	.	.	.	10.1679	0.42890	0.0923:0.0:0.9077:0.0	.	637;794;794	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	794;794;637;794;794	ENSP00000379818:L794M;ENSP00000385872:L794M;ENSP00000441572:L637M;ENSP00000332549:L794M;ENSP00000379820:L794M	.	L	-	1	2	GRIN2A	9770424	1.000000	0.71417	0.920000	0.36463	0.966000	0.64601	5.549000	0.67261	2.163000	0.67991	0.563000	0.77884	CTG		0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			59	301	1	0	7.73544e-29	1	9.01949e-29	59	301					T	9862923	G	T	9862923	3	4	79	1	0	0	0	0	1	0	0	0	6809	991	35	3	2022	3	GRIN2A	16	9862923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4537	9862923	80491830	16008	26325											
ATF7IP2	80063	broad.mit.edu	37	chr16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaaagaattgaaccaacGcattgggaagacagagtgca	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1039-1041)cGc>cAc		activating transcription factor 7 interacting protein 2							138	136	137					16																	10532037		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10532037G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1040G>A	16.37:g.10532037G>A	ENSP00000379808:p.Arg347His					ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H	p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			5	1267	+			347					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1040G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC		0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		92	392	0	0	0	1	0	92	392					A	10532037	G	A	10532037	3	1	79	1	0	0	0	0	1	0	0	0	1089	1087	38	1	1050	1	ATF7IP2	16	10532037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669114	10532037	79822716	16009	26326											
TEKT5	146279	broad.mit.edu	37	chr16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccgagcttttgtcttCgaggtccctctccagcacgt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	254						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(760-762)Gaa>Aaa		tektin 5							242	194	210					16																	10775953		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10775953C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.760G>A	16.37:g.10775953C>T	ENSP00000283025:p.Glu254Lys						p.E254K	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			4	831	-			254					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.760G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	6.681	0.494159	0.12702	.	.	ENSG00000153060	ENST00000283025	T	0.02280	4.36	5.05	5.05	0.67936	.	0.239661	0.28865	N	0.013890	T	0.01254	0.0041	N	0.04203	-0.255	0.30759	N	0.74427	B	0.17852	0.024	B	0.17722	0.019	T	0.34428	-0.9829	10	0.27082	T	0.32	-34.5828	6.6583	0.23000	0.1787:0.7307:0.0:0.0906	.	254	Q96M29	TEKT5_HUMAN	K	254	ENSP00000283025:E254K	ENSP00000283025:E254K	E	-	1	0	TEKT5	10683454	0.307000	0.24500	0.915000	0.36163	0.004000	0.04260	0.882000	0.28186	2.331000	0.79229	0.655000	0.94253	GAA		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		152	611	0	0	0	1	0	152	611					T	10775953	C	T	10775953	3	4	79	1	0	0	0	0	1	0	0	0	15808	893	31	1	713	1	TEKT5	16	10775953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243916	10775953	79578800	16010	26327											
CIITA	4261	broad.mit.edu	37	chr16	10996534	10996534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctttctccagttcctcGttgagctgcctgaatctccc	8	15	2	2	rs374843831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000381835.5_Silent_p.S167S|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(646-648)tcG>tcA		class II, major histocompatibility complex, transactivator		G		3,4391	6.2+/-15.9	0,3,2194	145	114	124		648	-6.8	0	16		124	0,8600		0,0,4300	no	coding-synonymous	CIITA	NM_000246.3		0,3,6494	AA,AG,GG		0.0,0.0683,0.0231		216/1131	10996534	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10996534G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.648G>A	16.37:g.10996534G>A						CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	p.S216S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			8	781	+			216					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.648G>A	CCDS10544.1																																																																																				0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		71	286	0	0	0	1	0	71	286					A	10996534	G	A	10996534	2	1	79	1	0	0	0	0	0	0	0	1	3437	1132	40	1		1	CIITA	16	10996534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220581	10996534	79358219	16011	26328											
CLEC16A	23274	broad.mit.edu	37	chr16	11066877	11066877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtctggttcattgggagCcatgtgatcgaactcgatga	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATTGGGAGCCATGTGATCG	0.488																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(685-687)agC>agT		C-type lectin domain family 16, member A							79	77	77					16																	11066877		1967	4164	6131	SO:0001819	synonymous_variant	23274							g.chr16:11066877C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.687C>T	16.37:g.11066877C>T						CLEC16A_ENST00000409552.3_Silent_p.S227S	p.S229S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			7	917	+			229						Silent	SNP	ENST00000409790.1	37	c.687C>T	CCDS45409.1																																																																																				0.488	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		17	59	0	0	0	1	0	17	59					T	11066877	C	T	11066877	2	4	79	1	0	0	0	0	0	0	0	1	3509	738	26	2		2	CLEC16A	16	11066877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70343	11066877	79287876	16012	26329											
CLEC16A	23274	broad.mit.edu	37	chr16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgaggagaaaagcgccGccgccacctgctctgagagc	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAAAGCGCCGCCGCCACCTG	0.617																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1402-1404)Gcc>Acc		C-type lectin domain family 16, member A							21	26	24					16																	11114148		2004	4173	6177	SO:0001583	missense	23274							g.chr16:11114148G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1402G>A	16.37:g.11114148G>A	ENSP00000387122:p.Ala468Thr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	p.A468T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			12	1632	+			468						Missense_Mutation	SNP	ENST00000409790.1	37	c.1402G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655504	0.67586	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47177	0.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.56486	-0.7971	10	0.14656	T	0.56	-18.8815	14.6545	0.68823	0.0:0.0:1.0:0.0	.	468;450	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	468;468;450	ENSP00000387122:A468T	ENSP00000386495:A450T	A	+	1	0	CLEC16A	11021649	1.000000	0.71417	0.303000	0.25071	0.018000	0.09664	7.199000	0.77831	2.521000	0.84997	0.555000	0.69702	GCC		0.617	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		29	109	0	0	0	1	0	29	109					A	11114148	G	A	11114148	3	1	79	1	0	0	0	0	1	0	0	0	3509	1087	38	1	1444	1	CLEC16A	16	11114148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47271	11114148	79240605	16013	26330											
CLEC16A	23274	broad.mit.edu	37	chr16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagttggtaatcgtcaacGaaacggaagcagactctaag	10	9	2	1	rs199811620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AATCGTCAACGAAACGGAAGC	0.607																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2869-2871)Gaa>Aaa		C-type lectin domain family 16, member A		G	LYS/GLU	1,4321		0,1,2160	108	123	118		2869	4.5	0	16		118	2,8506		0,2,4252	yes	missense	CLEC16A	NM_015226.2	56	0,3,6412	AA,AG,GG		0.0235,0.0231,0.0234	probably-damaging	957/1054	11272254	3,12827	2161	4254	6415	SO:0001583	missense	23274							g.chr16:11272254G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2869G>A	16.37:g.11272254G>A	ENSP00000387122:p.Glu957Lys					CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	p.E957K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			24	3099	+			957						Missense_Mutation	SNP	ENST00000409790.1	37	c.2869G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541002	0.45280	2.31E-4	2.35E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50813	0.73	4.49	4.49	0.54785	.	0.064355	0.64402	D	0.000014	T	0.61261	0.2333	L	0.46157	1.445	0.27050	N	0.963812	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.935	T	0.56360	-0.7992	10	0.62326	D	0.03	-4.7551	14.7192	0.69294	0.0:0.0:1.0:0.0	.	44;957	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	K	957;957;44	ENSP00000387122:E957K	ENSP00000371244:E44K	E	+	1	0	CLEC16A	11179755	1.000000	0.71417	0.044000	0.18714	0.002000	0.02628	6.109000	0.71528	2.215000	0.71742	0.655000	0.94253	GAA		0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		164	714	0	0	0	1	0	164	714					A	11272254	G	A	11272254	3	1	79	1	0	0	0	0	1	0	0	0	3509	1059	37	1	2959	1	CLEC16A	16	11272254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158106	11272254	79082499	16014	26331											
TNP2	7142	broad.mit.edu	37	chr16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggatgagctgtgggctcCagttgggttgcggtggctgg	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	61					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(181-183)Gga>Tga		transition protein 2 (during histone to protamine replacement)							142	157	152					16																	11362939		2075	4213	6288	SO:0001587	stop_gained	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362939C>A		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.181G>T	16.37:g.11362939C>A	ENSP00000325738:p.Gly61*					RMI2_ENST00000572173.1_Intron	p.G61*	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			1	250	-			61					Q9NZB0	Nonsense_Mutation	SNP	ENST00000312693.3	37	c.181G>T	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698888	0.30142	.	.	ENSG00000178279	ENST00000312693	.	.	.	0.91	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.9045	0.09176	0.0:0.4369:0.0:0.5631	.	.	.	.	X	61	.	ENSP00000325738:G61X	G	-	1	0	TNP2	11270440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-0.602000	0.05775	-0.266000	0.10368	GGA		0.617	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		194	905	1	0	1.08951e-92	1	1.39951e-92	194	905					A	11362939	C	A	11362939	4	1	79	1	0	0	0	0	0	1	0	0	16386	603	21	3	243	3	TNP2	16	11362939	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90685	11362939	78991814	16015	26332											
TXNDC11	51061	broad.mit.edu	37	chr16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggatccaagatgtaatgaGattcttctttcacgtcaaca	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423																																						ENST00000356957.3																			1	Substitution - Missense(1)	p.S618C(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1933-1935)tCt>tAt		thioredoxin domain containing 11							124	121	122					16																	11785193		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785193G>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1934C>A	16.37:g.11785193G>T	ENSP00000349439:p.Ser645Tyr					TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y	p.S645Y			Q6PKC3	TXD11_HUMAN			9	2041	-			645					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1934C>A		.	.	.	.	.	.	.	.	.	.	G	19.31	3.803146	0.70682	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.38054	0.1026	L	0.50333	1.59	0.37626	D	0.921503	D;D	0.67145	0.978;0.996	P;P	0.60682	0.805;0.878	T	0.35674	-0.9779	10	0.59425	D	0.04	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Y	645;618	ENSP00000349439:S645Y;ENSP00000283033:S618Y	ENSP00000283033:S618Y	S	-	2	0	TXNDC11	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT		0.423	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		15	439	1	0	2.32078e-09	1	2.442e-09	15	439					T	11785193	G	T	11785193	3	4	79	1	0	0	0	0	1	0	0	0	16846	942	33	3	1043	3	TXNDC11	16	11785193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422254	11785193	78569560	16016	26333											
TXNDC11	51061	broad.mit.edu	37	chr16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacctgagtggagctcGgagcacccagtctctctgca	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	627					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1879-1881)cCg>cTg		thioredoxin domain containing 11							133	130	131					16																	11785247		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785247G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1880C>T	16.37:g.11785247G>A	ENSP00000349439:p.Pro627Leu					TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L	p.P627L			Q6PKC3	TXD11_HUMAN			9	1987	-			627					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1880C>T		.	.	.	.	.	.	.	.	.	.	G	17.56	3.420081	0.62622	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14266	2.74;2.52	5.81	5.81	0.92471	.	0.245095	0.42821	D	0.000651	T	0.12475	0.0303	L	0.34521	1.04	0.58432	D	0.999992	P;P	0.43519	0.491;0.809	B;B	0.35655	0.098;0.207	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.9249	19.0707	0.93134	0.0:0.0:1.0:0.0	.	627;600	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	627;600	ENSP00000349439:P627L;ENSP00000283033:P600L	ENSP00000283033:P600L	P	-	2	0	TXNDC11	11692748	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.778000	0.75043	2.746000	0.94184	0.655000	0.94253	CCG		0.438	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		95	435	0	0	0	1	0	95	435					A	11785247	G	A	11785247	3	1	79	1	0	0	0	0	1	0	0	0	16846	1116	39	1	1097	1	TXNDC11	16	11785247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	11785247	78569506	16017	26334											
TXNDC11	51061	broad.mit.edu	37	chr16	11792005	11792005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattaaaggatgactttcGgccaggggattaaaaggtat	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1162-1164)gcC>gcT		thioredoxin domain containing 11							117	117	117					16																	11792005		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11792005G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1164C>T	16.37:g.11792005G>A						TXNDC11_ENST00000283033.5_Silent_p.A361A	p.A388A			Q6PKC3	TXD11_HUMAN			8	1271	-			388					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1164C>T																																																																																					0.507	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		132	453	0	0	0	1	0	132	453					A	11792005	G	A	11792005	2	1	79	1	0	0	0	0	0	0	0	1	16846	1103	39	1		1	TXNDC11	16	11792005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6758	11792005	78562748	16018	26335											
RSL1D1	26156	broad.mit.edu	37	chr16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttcctacctgagaaaCggttttaattccatgcttgt	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	126					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(376-378)Gtt>Att		ribosomal L1 domain containing 1							88	89	89					16																	11941533		2197	4299	6496	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11941533C>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.376G>A	16.37:g.11941533C>T	ENSP00000460871:p.Val126Ile					RSL1D1_ENST00000542106.1_5'UTR	p.V126I	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			3	448	-			126					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.376G>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226134	0.00283	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.37915	1.17	5.0	1.47	0.22746	Ribosomal protein L1, superfamily (1);	0.298473	0.36374	N	0.002639	T	0.09247	0.0228	N	0.01076	-1.035	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.011	T	0.35822	-0.9773	10	0.02654	T	1	-7.1063	7.6356	0.28264	0.0:0.359:0.0:0.641	.	126;126	Q32Q62;O76021	.;RL1D1_HUMAN	I	126	ENSP00000347897:V126I	ENSP00000347897:V126I	V	-	1	0	RSL1D1	11849034	0.010000	0.17322	0.157000	0.22605	0.144000	0.21451	-0.013000	0.12678	0.046000	0.15833	-1.327000	0.01280	GTT		0.318	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		58	292	0	0	0	1	0	58	292					T	11941533	C	T	11941533	3	4	79	1	0	0	0	0	1	0	0	0	13750	536	19	1	1124	1	RSL1D1	16	11941533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149528	11941533	78413220	16019	26336											
GSPT1	2935	broad.mit.edu	37	chr16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagaacttttccaattGcaatggtcttacctagaaat	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000563468.1	-	13	1486	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000434724.2_Missense_Mutation_p.A625V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V			P15170	ERF3A_HUMAN	G1 to S phase transition 1	487					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1873-1875)gCa>gTa		G1 to S phase transition 1							141	140	140					16																	11967016		1873	4112	5985	SO:0001583	missense	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11967016G>A	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1460C>T	16.37:g.11967016G>A	ENSP00000454351:p.Ala487Val					GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V|GSPT1_ENST00000563468.1_Missense_Mutation_p.A487V	p.A625V	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			15	2073	-			487					J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	c.1874C>T	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450010	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.59906	0.54;0.55;0.23	5.54	5.54	0.83059	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83487	0.5265	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68039	0.955;0.955;0.935	D	0.88726	0.3233	10	0.87932	D	0	-19.6359	18.0661	0.89391	0.0:0.0:1.0:0.0	.	624;621;487	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	V	625;624;487	ENSP00000398131:A625V;ENSP00000408399:A624V;ENSP00000399539:A487V	ENSP00000399539:A487V	A	-	2	0	GSPT1	11874517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.605000	0.88082	0.591000	0.81541	GCA		0.308	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		85	483	0	0	0	1	0	85	483					A	11967016	G	A	11967016	3	1	79	1	0	0	0	0	1	0	0	0	6856	1319	46	2	43	2	GSPT1	16	11967016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25483	11967016	78387737	16020	26337											
GSPT1	2935	broad.mit.edu	37	chr16	11990584	11990584	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggctctgcttcactTatttcttctttgtgctccca	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000563468.1	-	2	107	c.81A>C	c.(79-81)atA>atC	p.I27I	GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000434724.2_Silent_p.I165I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Silent_p.I164I			P15170	ERF3A_HUMAN	G1 to S phase transition 1	27					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(493-495)atA>atC		G1 to S phase transition 1							64	58	60					16																	11990584		1894	4128	6022	SO:0001819	synonymous_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11990584T>G	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.81A>C	16.37:g.11990584T>G						GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I|GSPT1_ENST00000563468.1_Silent_p.I27I	p.I165I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			4	694	-			27					J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	c.495A>C	CCDS45414.1																																																																																				0.433	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		15	42	0	0	0	1	0	15	42					G	11990584	T	G	11990584	2	3	79	1	0	0	0	0	0	0	0	1	6856	1744	61	4		4	GSPT1	16	11990584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23568	11990584	78364169	16021	26338											
SNX29	92017	broad.mit.edu	37	chr16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtgttccaggtggcagaGatgcatggcgagctgattga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	597						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1789-1791)gaG>gaT		sorting nexin 29							39	43	42					16																	12450028		2077	4216	6293	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12450028G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1791G>T	16.37:g.12450028G>T	ENSP00000456480:p.Glu597Asp					SNX29_ENST00000323433.4_Missense_Mutation_p.E212D|SNX29_ENST00000306030.3_Missense_Mutation_p.E212D	p.E597D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			16	1860	+			212					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1791G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275544	0.59649	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.36	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.38175	1.15	0.26902	N	0.967094	.	.	.	.	.	.	T	0.11717	-1.0576	7	0.30854	T	0.27	-28.2457	4.8659	0.13607	0.2513:0.0:0.7487:0.0	.	.	.	.	D	212	.	ENSP00000306940:E212D	E	+	3	2	SNX29	12357529	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.968000	0.63728	2.496000	0.84212	0.563000	0.77884	GAG		0.587	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			22	80	1	0	7.87624e-14	1	8.52853e-14	22	80					T	12450028	G	T	12450028	3	4	79	1	0	0	0	0	1	0	0	0	14948	933	33	3	666	3	SNX29	16	12450028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459444	12450028	77904725	16022	26339											
ERCC4	2072	broad.mit.edu	37	chr16	14022092	14022092	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggaaaaccttttgacaaGgtactctttttccttttaag	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CTD-2135D7.2_ENST00000575137.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	264	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.e4+1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							59	60	60					16																	14022092		2197	4300	6497	SO:0001630	splice_region_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14022092G>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.792+1G>T	16.37:g.14022092G>T						ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264_splice	p.K264_splice	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			4	801	+			264					A5PKV6|A8K111|O00140|Q8TD83	Splice_Site	SNP	ENST00000311895.7	37	c.792_splice	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616793	0.66672	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.66280	-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.83312	2.635	0.80722	D	1	P;D	0.56035	0.687;0.974	B;P	0.55615	0.259;0.78	T	0.76751	-0.2844	10	0.41790	T	0.15	-34.8801	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264;264	A5PKV6;Q92889	.;XPF_HUMAN	N	264;253;253	ENSP00000310520:K264N	ENSP00000310520:K264N	K	+	3	2	ERCC4	13929593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	AAG		0.284	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	Missense_Mutation	37	189	1	0	1.36161e-19	1	1.52027e-19	37	189					T	14022092	G	T	14022092	5	4	79	1	0	0	0	0	0	0	1	0	5233	1014	35	3	806	3	ERCC4	16	14022092	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1572064	14022092	76332661	16023	26340											
ERCC4	2072	broad.mit.edu	37	chr16	14029331	14029331	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtcgaggaaggataTcgtcgagaaataagcagtag	15	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029331T>G	ENST00000311895.7	+	8	1551	c.1542T>G	c.(1540-1542)taT>taG	p.Y514*	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	514					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAAGGATATCGTCGAGAAA	0.413			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1540-1542)taT>taG	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							73	74	73					16																	14029331		2197	4300	6497	SO:0001587	stop_gained	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029331T>G	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1542T>G	16.37:g.14029331T>G	ENSP00000310520:p.Tyr514*					CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.Y514*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1551	+			514					A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	c.1542T>G	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254748	0.39896	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.51	-5.5	0.02576	.	3.664390	0.00397	N	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8712	9.2505	0.37551	0.0:0.4804:0.2273:0.2922	.	.	.	.	X	514;503	.	ENSP00000310520:Y514X	Y	+	3	2	ERCC4	13936832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.546000	0.02188	-1.237000	0.02539	-0.250000	0.11733	TAT		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		10	385	0	0	0	1	0	10	385					G	14029331	T	G	14029331	4	3	79	1	0	0	0	0	0	1	0	0	5233	1442	50	4	1572	4	ERCC4	16	14029331	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7239	14029331	76325422	16024	26341											
ERCC4	2072	broad.mit.edu	37	chr16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtggagccaagatacGtggttctttatgacgcagag	13	6	1	4	rs202186213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	578					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.0		0.001	False		,,,				2504	0.0					ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1732-1734)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							79	78	78					16																	14029521		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029521G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1732G>A	16.37:g.14029521G>A	ENSP00000310520:p.Val578Met						p.V578M	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1741	+			578					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1732G>A	CCDS32390.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831633	0.91036	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83833	0.0253	10	0.72032	D	0.01	-23.4834	18.3806	0.90449	0.0:0.0:1.0:0.0	.	578	Q92889	XPF_HUMAN	M	578;567	ENSP00000310520:V578M	ENSP00000310520:V578M	V	+	1	0	ERCC4	13937022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.644000	0.89710	0.591000	0.81541	GTG		0.493	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		96	357	0	0	0	1	0	96	357					A	14029521	G	A	14029521	3	1	79	1	0	0	0	0	1	0	0	0	5233	1145	40	1	1762	1	ERCC4	16	14029521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	14029521	76325232	16025	26342											
ERCC4	2072	broad.mit.edu	37	chr16	14041754	14041754	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaccctagcaagcctttCtctctcacttcccgaggtgc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	767	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(2299-2301)ttC>ttT	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							122	118	119					16																	14041754		2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14041754C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2301C>T	16.37:g.14041754C>T							p.F767F	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			11	2310	+			767			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.2301C>T	CCDS32390.1																																																																																				0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		111	470	0	0	0	1	0	111	470					T	14041754	C	T	14041754	2	4	79	1	0	0	0	0	0	0	0	1	5233	912	32	2		2	ERCC4	16	14041754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12233	14041754	76312999	16026	26343											
MKL2	57496	broad.mit.edu	37	chr16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggatcacacaggggCgatagacaccgaggatgaag	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000574045.1	+	3	172	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.A6V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACACAGGGGCGATAGACACC	0.502																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(16-18)gCg>gTg		MKL/myocardin-like 2							123	99	107					16																	14234480		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14234480C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.17C>T	16.37:g.14234480C>T	ENSP00000459205:p.Ala6Val					MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.A6V	p.A6V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			3	189	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.17C>T	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158251	0.21454	.	.	ENSG00000186260	ENST00000318282	.	.	.	4.93	2.59	0.31030	.	.	.	.	.	T	0.26774	0.0655	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.25719	0.081;0.132	B;B	0.21546	0.016;0.035	T	0.14868	-1.0457	8	0.23302	T	0.38	.	11.1804	0.48625	0.0:0.8158:0.0:0.1842	.	6;6	B4DGT8;Q9ULH7-4	.;.	V	6	.	ENSP00000339086:A6V	A	+	2	0	MKL2	14141981	0.028000	0.19301	0.537000	0.28052	0.191000	0.23601	0.397000	0.20883	1.083000	0.41159	-0.140000	0.14226	GCG		0.502	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		16	265	0	0	0	1	0	16	265					T	14234480	C	T	14234480	3	4	79	1	0	0	0	0	1	0	0	0	9643	768	27	1	19	1	MKL2	16	14234480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192726	14234480	76120273	16027	26344											
MKL2	57496	broad.mit.edu	37	chr16	14340860	14340860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagaaagagaagcaaatCgaagagctgaagaggaaact	13	5	0	5	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000571589.1_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507																																						ENST00000571589.1																			3	Substitution - coding silent(3)	p.I581I(3)	large_intestine(2)|lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1741-1743)atC>atT		MKL/myocardin-like 2		C		0,4394		0,0,2197	37	39	38		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340860C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1710C>T	16.37:g.14340860C>T						MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000341243.5_Silent_p.I570I|MKL2_ENST00000574045.1_Silent_p.I581I	p.I581I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1915	+			570			Required for interaction with itself and with MKL1.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1743C>T																																																																																					0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		39	220	0	0	0	1	0	39	220					T	14340860	C	T	14340860	2	4	79	1	0	0	0	0	0	0	0	1	9643	874	31	1		1	MKL2	16	14340860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106380	14340860	76013893	16028	26345											
MKL2	57496	broad.mit.edu	37	chr16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctcactccctgactgCtccagctccaggcagcccat	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000341243.5	+	10	1908	c.1908C>A	c.(1906-1908)tgC>tgA	p.C636*	MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000571589.1_Nonsense_Mutation_p.C647*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	636					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTGACTGCTCCAGCTCCA	0.587																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1939-1941)tgC>tgA		MKL/myocardin-like 2							40	41	41					16																	14341058		2197	4300	6497	SO:0001587	stop_gained	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341058C>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1908C>A	16.37:g.14341058C>A	ENSP00000345841:p.Cys636*					MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.C636*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*	p.C647*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2113	+			636					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Nonsense_Mutation	SNP	ENST00000341243.5	37	c.1941C>A		.	.	.	.	.	.	.	.	.	.	C	40	7.948015	0.98577	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.43	4.25	0.50352	.	0.202123	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3376	8.5521	0.33458	0.0:0.7987:0.0:0.2013	.	.	.	.	X	647;636	.	ENSP00000339086:C647X	C	+	3	2	MKL2	14248559	0.961000	0.32948	1.000000	0.80357	0.816000	0.46133	0.562000	0.23531	2.700000	0.92200	0.655000	0.94253	TGC		0.587	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		56	292	1	0	2.43277e-16	1	2.6724e-16	56	292					A	14341058	C	A	14341058	4	1	79	1	0	0	0	0	0	1	0	0	9643	805	28	3	1979	3	MKL2	16	14341058	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	14341058	76013695	16029	26346											
BFAR	51283	broad.mit.edu	37	chr16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcacagcttctgccGtcactgccttgctttatggt	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(163-165)cGt>cAt		bifunctional apoptosis regulator							145	133	137					16																	14738367		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14738367G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.164G>A	16.37:g.14738367G>A	ENSP00000261658:p.Arg55His					BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	p.R55H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			2	441	+			55					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.164G>A	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520793	0.96416	.	.	ENSG00000103429	ENST00000261658	T	0.08193	3.12	6.02	6.02	0.97574	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00536	-1.1683	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	55;55;55	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	H	55	ENSP00000261658:R55H	ENSP00000261658:R55H	R	+	2	0	BFAR	14645868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.855000	0.98099	0.655000	0.94253	CGT		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		155	598	0	0	0	1	0	155	598					A	14738367	G	A	14738367	3	1	79	1	0	0	0	0	1	0	0	0	1416	1145	40	1	166	1	BFAR	16	14738367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397309	14738367	75616386	16030	26347											
NOMO1	23420	broad.mit.edu	37	chr16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcctgtttttagaaggccaGatccaccccgagttggaagg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	806						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2416-2418)caG>caT		NODAL modulator 1							98	92	94					16																	14970277		2194	4297	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14970277G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2418G>T	16.37:g.14970277G>T	ENSP00000287667:p.Gln806His						p.Q806H	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			21	2589	+			806					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2418G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.621047	0.46736	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04234	3.67	3.57	3.57	0.40892	.	0.059244	0.64402	D	0.000002	T	0.06462	0.0166	L	0.54323	1.7	0.50467	D	0.999874	P	0.41748	0.761	B	0.38500	0.275	T	0.41305	-0.9516	10	0.35671	T	0.21	-19.8079	12.7421	0.57259	0.0:0.0:1.0:0.0	.	806	Q15155	NOMO1_HUMAN	H	806;806;639	ENSP00000287667:Q806H	ENSP00000287667:Q806H	Q	+	3	2	NOMO1	14877778	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.034000	0.41145	1.821000	0.53095	0.398000	0.26397	CAG		0.507	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			103	447	1	0	1.14936e-50	1	1.42452e-50	103	447					T	14970277	G	T	14970277	3	4	79	1	0	0	0	0	1	0	0	0	10573	933	33	3	2500	3	NOMO1	16	14970277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231910	14970277	75384476	16031	26348											
NOMO1	23420	broad.mit.edu	37	chr16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccgcgcgctcggccaggCagcctctgacaatagcggcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1200						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3598-3600)gCa>gTa		NODAL modulator 1							253	319	297					16																	14989432		2193	4298	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989432C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3599C>T	16.37:g.14989432C>T	ENSP00000287667:p.Ala1200Val						p.A1200V	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			31	3770	+			1200					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3599C>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303128	0.40795	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.54479	0.57	2.99	2.99	0.34606	.	0.210335	0.41605	D	0.000860	T	0.45316	0.1336	L	0.50333	1.59	0.46376	D	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.48790	-0.9004	10	0.48119	T	0.1	-1.1936	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1200	Q15155	NOMO1_HUMAN	V	1200;1200;1033	ENSP00000287667:A1200V	ENSP00000287667:A1200V	A	+	2	0	NOMO1	14896933	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.900000	0.56295	1.681000	0.50988	0.384000	0.25694	GCA		0.542	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			271	2938	0	0	0	1	0	271	2938					T	14989432	C	T	14989432	3	4	79	1	0	0	0	0	1	0	0	0	10573	710	25	2	3721	2	NOMO1	16	14989432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19155	14989432	75365321	16032	26349											
PDXDC1	23042	broad.mit.edu	37	chr16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcatatggctttgttggGacatagtctgggagcttata	13	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	95					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTGTTGGGACATAGTCTG	0.353																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(283-285)gGa>gAa		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						162	176	171					16																	15098085		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15098085G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.284G>A	16.37:g.15098085G>A	ENSP00000379691:p.Gly95Glu					PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E	p.G95E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			5	381	+			95					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.284G>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944065	0.92593	.	.	ENSG00000179889	ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.984	D;D;D;D;D;P	0.97110	0.998;1.0;0.995;0.998;0.998;0.885	T	0.43766	-0.9371	10	0.72032	D	0.01	-24.923	19.2382	0.93871	0.0:0.0:1.0:0.0	.	67;80;95;67;95;95	E7EPL4;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	E	80;95;95;67;95	ENSP00000322807:G80E;ENSP00000437835:G95E;ENSP00000379691:G95E;ENSP00000391147:G67E;ENSP00000406703:G95E	ENSP00000322807:G80E	G	+	2	0	PDXDC1	15005586	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.850000	0.98022	0.650000	0.86243	GGA		0.353	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		36	970	0	0	0	1	0	36	970					A	15098085	G	A	15098085	3	1	79	1	0	0	0	0	1	0	0	0	11738	1174	41	2	302	2	PDXDC1	16	15098085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108653	15098085	75256668	16033	26350											
PDXDC1	23042	broad.mit.edu	37	chr16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatttgcagagtcaacGgttgcaggaaagtttgaaga	12	5	2	3	rs568115955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGAGTCAACGGTTGCAGGAA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		30426	0.0		0.0	False		,,,				2504	0.0					ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)cGg>cAg		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						150	133	139					16																	15116568		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15116568G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1097G>A	16.37:g.15116568G>A	ENSP00000379691:p.Arg366Gln					PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q	p.R366Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			13	1194	+			366					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1097G>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411756	0.25465	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.96	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.29061	0.0722	L	0.32530	0.975	0.31088	N	0.711142	B;B;B;B;B;B	0.20052	0.004;0.004;0.014;0.004;0.004;0.041	B;B;B;B;B;B	0.11329	0.002;0.003;0.003;0.003;0.002;0.006	T	0.21621	-1.0240	10	0.26408	T	0.33	-20.2729	9.0978	0.36649	0.167:0.0:0.833:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Q	351;275;366;366;338;72;343	ENSP00000322807:R351Q;ENSP00000400310:R275Q;ENSP00000437835:R366Q;ENSP00000379691:R366Q;ENSP00000391147:R338Q;ENSP00000406703:R343Q	ENSP00000322807:R351Q	R	+	2	0	PDXDC1	15024069	0.987000	0.35691	0.119000	0.21687	0.970000	0.65996	3.786000	0.55431	1.094000	0.41399	-0.350000	0.07774	CGG		0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		23	273	0	0	0	1	0	23	273					A	15116568	G	A	15116568	3	1	79	1	0	0	0	0	1	0	0	0	11738	1116	39	1	1147	1	PDXDC1	16	15116568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	15116568	75238185	16034	26351											
KIAA0430	9665	broad.mit.edu	37	chr16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccaagactgagatgCgagcagaggactgacttgcc	13	9	0	6	rs370385036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000396368.3	-	10	2454	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	750					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2248-2250)Gca>Aca		KIAA0430		C	THR/ALA,THR/ALA,THR/ALA	0,3946		0,0,1973	115	121	119		2248,2239,2245	-7.6	0	16		119	1,8323		0,1,4161	no	missense,missense,missense	KIAA0430	NM_014647.3,NM_001184999.1,NM_001184998.1	58,58,58	0,1,6134	TT,TC,CC		0.012,0.0,0.0081	benign,benign,benign	750/1743,747/1740,749/1743	15718648	1,12269	1973	4162	6135	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15718648C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2248G>A	16.37:g.15718648C>T	ENSP00000379654:p.Ala750Thr					KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T	p.A750T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			10	2454	-			749					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2248G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212746	0.09757	0.0	1.2E-4	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	-7.59	0.01308	.	1.014950	0.07841	N	0.963039	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44452	-0.9327	9	0.05959	T	0.93	.	12.1485	0.54036	0.1754:0.5963:0.0:0.2282	.	748;747;746;749	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	750;607;749;428;747;749;606	.	ENSP00000315718:A749T	A	-	1	0	KIAA0430	15626149	0.001000	0.12720	0.004000	0.12327	0.596000	0.36781	-0.766000	0.04725	-1.422000	0.02004	-1.083000	0.02208	GCA		0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		41	483	0	0	0	1	0	41	483					T	15718648	C	T	15718648	3	4	79	1	0	0	0	0	1	0	0	0	8207	768	27	1	3055	1	KIAA0430	16	15718648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	602080	15718648	74636105	16035	26352											
KIAA0430	9665	broad.mit.edu	37	chr16	15728717	15728717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagagggacagcaagaggTgcaggttgagtatttggagg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15728717T>C	ENST00000396368.3	-	4	1109	c.903A>G	c.(901-903)gcA>gcG	p.A301A	KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000548025.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A|KIAA0430_ENST00000540441.2_Silent_p.A301A|KIAA0430_ENST00000551742.1_Silent_p.A301A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	301					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGCAAGAGGTGCAGGTTGAG	0.438																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(901-903)gcA>gcG		KIAA0430							249	233	238					16																	15728717		1960	4139	6099	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15728717T>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.903A>G	16.37:g.15728717T>C						KIAA0430_ENST00000548025.1_Silent_p.A301A|KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000551742.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A|KIAA0430_ENST00000540441.2_Silent_p.A301A	p.A301A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			4	1109	-			300					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.903A>G	CCDS10562.2																																																																																				0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		17	837	0	0	0	1	0	17	837					C	15728717	T	C	15728717	2	2	79	1	0	0	0	0	0	0	0	1	8207	1683	59	4		4	KIAA0430	16	15728717	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10069	15728717	74626036	16036	26353											
KIAA0430	9665	broad.mit.edu	37	chr16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagcttgtgcacattaCcatgacatgactggaagtgg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000396368.3	-	3	817	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	204					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(610-612)gGt>gTt		KIAA0430							94	96	95					16																	15729733		2056	4189	6245	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729733C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.611G>T	16.37:g.15729733C>A	ENSP00000379654:p.Gly204Val					KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V	p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	817	-			203					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.611G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714553	0.48622	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.94	0.45596	.	0.365309	0.27219	N	0.020377	T	0.51024	0.1650	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.50369	0.05;0.934;0.934;0.934;0.891	B;P;P;P;P	0.55923	0.067;0.688;0.787;0.787;0.49	T	0.44283	-0.9338	9	0.72032	D	0.01	.	11.7683	0.51943	0.0:0.8098:0.124:0.0662	.	203;203;204;203;203	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	204;204;203;26;204;204;204	.	ENSP00000315718:G203V	G	-	2	0	KIAA0430	15637234	0.973000	0.33851	0.001000	0.08648	0.957000	0.61999	3.123000	0.50453	0.815000	0.34398	0.655000	0.94253	GGT		0.522	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		97	313	1	0	2.68325e-40	1	3.25214e-40	97	313					A	15729733	C	A	15729733	3	1	79	1	0	0	0	0	1	0	0	0	8207	507	18	3	4720	3	KIAA0430	16	15729733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	15729733	74625020	16037	26354											
NDE1	54820	broad.mit.edu	37	chr16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgcttgaatcaggCcatcgaaagaaatgccttcc	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396353.2	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_ENST00000342673.5_Missense_Mutation_p.A145V|NDE1_ENST00000396355.1_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|CTB-193M12.3_ENST00000576454.1_RNA			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	145	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(433-435)gCc>gTc		nudE neurodevelopment protein 1							83	85	84					16																	15781279		2197	4300	6497	SO:0001583	missense	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15781279C>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.434C>T	16.37:g.15781279C>T	ENSP00000379641:p.Ala145Val					NDE1_ENST00000396353.2_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V	p.A145V	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			6	1260	+			145			Interaction with PAFAH1B1 (By similarity).		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37	c.434C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294382	0.81025	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.051998	0.85682	D	0.000000	T	0.60196	0.2250	M	0.69463	2.115	0.80722	D	1	B;D	0.58620	0.299;0.983	B;B	0.42522	0.013;0.39	T	0.62765	-0.6785	9	0.40728	T	0.16	-51.7478	19.1736	0.93590	0.0:1.0:0.0:0.0	.	145;145	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	V	145	.	ENSP00000345892:A145V	A	+	2	0	NDE1	15688780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	2.766000	0.95052	0.591000	0.81541	GCC		0.498	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		61	244	0	0	0	1	0	61	244					T	15781279	C	T	15781279	3	4	79	1	0	0	0	0	1	0	0	0	10285	739	26	2	448	2	NDE1	16	15781279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51546	15781279	74573474	16038	26355											
MYH11	4629	broad.mit.edu	37	chr16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgttgacttccagccGcagtttggcgtcctccgtgg	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000300036.5	-	33	4799	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1564					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)			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						ACTTCCAGCCGCAGTTTGGCG	0.602			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(4690-4692)Cgg>Tgg		myosin, heavy chain 11, smooth muscle							110	101	104					16																	15814797		2197	4300	6497	SO:0001583	missense	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.chr16:15814797G>A	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.4690C>T	16.37:g.15814797G>A	ENSP00000300036:p.Arg1564Trp					MYH11_ENST00000300036.5_Missense_Mutation_p.R1564W|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|MYH11_ENST00000576790.1_Missense_Mutation_p.R1564W	p.R1564W	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			33	4796	-			1564					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4690C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946232	0.73672	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	2.73	0.32206	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94435	0.7653	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.5351:0.4649	.	1571;1564;1571;1564;1571	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	1564;1564;1571;1571;1571	ENSP00000300036:R1564W;ENSP00000345136:R1564W;ENSP00000379616:R1571W;ENSP00000407821:R1571W	ENSP00000300036:R1564W	R	-	1	2	MYH11	15722298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.928000	0.40104	1.056000	0.40484	0.561000	0.74099	CGG		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		109	475	0	0	0	1	0	109	475					A	15814797	G	A	15814797	3	1	79	1	0	0	0	0	1	0	0	0	10072	1086	38	1	1299	1	MYH11	16	15814797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33518	15814797	74539956	16039	26356											
MYH11	4629	broad.mit.edu	37	chr16	15826526	15826526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcgtctcttcatccagGgccttcttcagcaccgtcac	8	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000300036.5	-	27	3655	c.3546C>A	c.(3544-3546)gcC>gcA	p.A1182A	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000576790.2_Silent_p.A1182A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1182					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)			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						CTTCATCCAGGGCCTTCTTCA	0.597			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(3544-3546)gcC>gcA		myosin, heavy chain 11, smooth muscle							181	131	148					16																	15826526		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:15826526G>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.3546C>A	16.37:g.15826526G>T						MYH11_ENST00000300036.5_Silent_p.A1182A|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000576790.1_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA	p.A1182A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			27	3652	-			1182					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3546C>A	CCDS10565.1																																																																																				0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		105	402	1	0	3.88716e-44	1	4.75385e-44	105	402					T	15826526	G	T	15826526	2	4	79	1	0	0	0	0	0	0	0	1	10072	1219	43	3		3	MYH11	16	15826526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11729	15826526	74528227	16040	26357											
MYH11	4629	broad.mit.edu	37	chr16	15829434	15829434	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgatttcatcgtcaaGccttccagggagagacccag	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000300036.5	-	26	3404	c.3295C>A	c.(3295-3297)Ctt>Att	p.L1099I	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Splice_Site_p.L1106I|MYH11_ENST00000452625.2_Splice_Site_p.L1106I|MYH11_ENST00000576790.2_Splice_Site_p.L1099I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1099					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)			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						TCATCGTCAAGCCTTCCAGGG	0.542			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.e26-1		myosin, heavy chain 11, smooth muscle							57	60	59					16																	15829434		2197	4300	6497	SO:0001630	splice_region_variant	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.chr16:15829434G>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.3294-1C>A	16.37:g.15829434G>T						MYH11_ENST00000300036.5_Splice_Site_p.L1099_splice|MYH11_ENST00000452625.2_Splice_Site_p.L1106_splice|MYH11_ENST00000396324.3_Splice_Site_p.L1106_splice|MYH11_ENST00000576790.1_Splice_Site_p.L1099_splice	p.L1099_splice	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			26	3401	-			1099					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Splice_Site	SNP	ENST00000300036.5	37	c.3293_splice	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550723	0.13374	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	N	0.20986	0.625	0.53005	D	0.999961	B;B;B;B;B	0.11235	0.002;0.004;0.004;0.002;0.002	B;B;B;B;B	0.18263	0.021;0.02;0.02;0.02;0.012	T	0.72357	-0.4318	10	0.02654	T	1	.	18.4136	0.90561	0.0:0.0:1.0:0.0	.	1106;1099;1106;1099;1106	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1099;1099;1106;1106;1106	ENSP00000300036:L1099I;ENSP00000345136:L1099I;ENSP00000379616:L1106I;ENSP00000407821:L1106I	ENSP00000300036:L1099I	L	-	1	0	MYH11	15736935	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	1.568000	0.36418	2.593000	0.87608	0.442000	0.29010	CTT		0.542	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Missense_Mutation	96	375	1	0	2.1089e-46	1	2.5903e-46	96	375					T	15829434	G	T	15829434	5	4	79	1	0	0	0	0	0	0	1	0	10072	985	34	3	2722	3	MYH11	16	15829434	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2908	15829434	74525319	16041	26358											
MYH11	4629	broad.mit.edu	37	chr16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcattcgccgccaggatcTcgtagcttgaaacacagagc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000300036.5	-	18	2295	c.2186A>C	c.(2185-2187)gAg>gCg	p.E729A	MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000576790.2_Missense_Mutation_p.E729A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	729	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)			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						CGCCAGGATCTCGTAGCTTGA	0.607			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(2185-2187)gAg>gCg		myosin, heavy chain 11, smooth muscle							82	75	77					16																	15841795		2197	4300	6497	SO:0001583	missense	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.chr16:15841795T>G	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.2186A>C	16.37:g.15841795T>G	ENSP00000300036:p.Glu729Ala					MYH11_ENST00000300036.5_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000576790.1_Missense_Mutation_p.E729A	p.E729A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			18	2292	-			729			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2186A>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634848	0.87760	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91576	0.5275	10	0.72032	D	0.01	.	13.5925	0.61967	0.0:0.0:0.0:1.0	.	736;729;736;729;736	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	729;729;736;736;736	ENSP00000300036:E729A;ENSP00000345136:E729A;ENSP00000379616:E736A;ENSP00000407821:E736A	ENSP00000300036:E729A	E	-	2	0	MYH11	15749296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.024000	0.88770	1.806000	0.52798	0.459000	0.35465	GAG		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		66	328	0	0	0	1	0	66	328					G	15841795	T	G	15841795	3	3	79	1	0	0	0	0	1	0	0	0	10072	1551	54	4	3863	4	MYH11	16	15841795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12361	15841795	74512958	16042	26359											
MYH11	4629	broad.mit.edu	37	chr16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcagcgagctctccGtcatcttggccatctggtcc	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000300036.5	-	16	2013	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000576790.2_Missense_Mutation_p.T635M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	635	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.T635M(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						CGAGCTCTCCGTCATCTTGGC	0.627			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		1	Substitution - Missense(1)	p.T635M(1)	large_intestine(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						c.(1903-1905)aCg>aTg		myosin, heavy chain 11, smooth muscle							93	69	77					16																	15844149		2197	4300	6497	SO:0001583	missense	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.chr16:15844149G>A	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.1904C>T	16.37:g.15844149G>A	ENSP00000300036:p.Thr635Met					MYH11_ENST00000300036.5_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000576790.1_Missense_Mutation_p.T635M	p.T635M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			16	2010	-			635			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1904C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993385	0.74703	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.123826	0.53938	D	0.000050	D	0.87313	0.6146	L	0.47190	1.495	0.80722	D	1	D;P;P;P;P;P	0.54397	0.966;0.619;0.619;0.619;0.904;0.619	P;P;P;P;P;P	0.49799	0.622;0.5;0.5;0.5;0.5;0.5	D	0.88077	0.2804	10	0.56958	D	0.05	.	15.4747	0.75468	0.0:0.1387:0.8613:0.0	.	642;635;635;642;635;642	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	635;635;642;642;642	ENSP00000300036:T635M;ENSP00000345136:T635M;ENSP00000379616:T642M;ENSP00000407821:T642M	ENSP00000300036:T635M	T	-	2	0	MYH11	15751650	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.660000	0.74417	2.571000	0.86741	0.561000	0.74099	ACG		0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		23	110	0	0	0	1	0	23	110					A	15844149	G	A	15844149	3	1	79	1	0	0	0	0	1	0	0	0	10072	1145	40	1	4153	1	MYH11	16	15844149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2354	15844149	74510604	16043	26360											
MYH11	4629	broad.mit.edu	37	chr16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccagggctttgttcaCgcgggtgagtatccagcgga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000300036.5	-	12	1427	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000576790.2_Missense_Mutation_p.V440M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	440	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)			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						GCTTTGTTCACGCGGGTGAGT	0.552			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(1318-1320)Gtg>Atg		myosin, heavy chain 11, smooth muscle							118	105	109					16																	15853516		2197	4300	6497	SO:0001583	missense	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.chr16:15853516C>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.1318G>A	16.37:g.15853516C>T	ENSP00000300036:p.Val440Met					MYH11_ENST00000300036.5_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000576790.1_Missense_Mutation_p.V440M	p.V440M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			12	1424	-			440			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1318G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520021	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.997;0.997;0.997;0.997;0.981	D;D;D;D;P;P	0.63703	0.917;0.917;0.917;0.917;0.891;0.879	D	0.87710	0.2566	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	447;440;440;447;440;447	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	440;440;447;447;447	ENSP00000300036:V440M;ENSP00000345136:V440M;ENSP00000379616:V447M;ENSP00000407821:V447M	ENSP00000300036:V440M	V	-	1	0	MYH11	15761017	0.944000	0.32072	0.966000	0.40874	0.496000	0.33645	2.105000	0.41825	2.706000	0.92434	0.561000	0.74099	GTG		0.552	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		105	455	0	0	0	1	0	105	455					T	15853516	C	T	15853516	3	4	79	1	0	0	0	0	1	0	0	0	10072	536	19	1	4755	1	MYH11	16	15853516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9367	15853516	74501237	16044	26361											
C16orf63	123811	broad.mit.edu	37	chr16	15982427	15982427	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcactcaccagccttcaactCtgccacagtcgccatttttc	5	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15982427C>T	ENST00000255759.6	-	1	45	c.16G>A	c.(16-18)Gag>Aag	p.E6K	CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000573396.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575744.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575073.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573429.1_Missense_Mutation_p.E6K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	6	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GCCTTCAACTCTGCCACAGTC	0.657																																						ENST00000255759.6																			0				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						c.(16-18)Gag>Aag		FGFR1OP N-terminal like							34	37	36					16																	15982427		2197	4300	6497	SO:0001583	missense	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15982427C>T	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"pluripotent embryonic stem cell-related protein", "FOP-related protein of 20 kDa"		"chromosome 16 open reading frame 63"	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.16G>A	16.37:g.15982427C>T	ENSP00000255759:p.Glu6Lys					FOPNL_ENST00000573396.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573429.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575744.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575073.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E6K	p.E6K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN			1	45	-			6			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	c.16G>A	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561668	0.65538	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.63	5.63	0.86233	.	0.110116	0.64402	D	0.000010	T	0.74253	0.3692	M	0.65498	2.005	0.51233	D	0.999917	P;D	0.65815	0.919;0.995	B;P	0.57244	0.324;0.816	T	0.75190	-0.3405	9	0.56958	D	0.05	0.8445	17.212	0.86932	0.0:1.0:0.0:0.0	.	6;6	B3KPU9;Q96NB1	.;FOPNL_HUMAN	K	6	.	ENSP00000255759:E6K	E	-	1	0	FOPNL	15889928	0.997000	0.39634	0.950000	0.38849	0.031000	0.12232	3.902000	0.56310	2.826000	0.97356	0.655000	0.94253	GAG		0.657	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		44	233	0	0	0	1	0	44	233					T	15982427	C	T	15982427	3	4	79	1	0	0	0	0	1	0	0	0	1831	922	32	2	528	2	C16orf63	16	15982427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128911	15982427	74372326	16045	26362											
ABCC6	368	broad.mit.edu	37	chr16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcccaaagtcccggaactCgatctgcccgccctgaggcc	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCCGGAACTCGATCTGCCCG	0.627																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(3796-3798)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							48	42	44					16																	16251606		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16251606C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3796G>A	16.37:g.16251606C>T	ENSP00000205557:p.Glu1266Lys						p.E1266K	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	27	3825	-			1266			ABC transporter 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3796G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056895	0.76074	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90955	-2.76	5.09	4.13	0.48395	ABC transporter-like (1);	0.000000	0.47852	U	0.000214	D	0.86079	0.5847	L	0.45352	1.415	0.80722	D	1	D	0.55385	0.971	B	0.39258	0.295	D	0.86918	0.2065	10	0.87932	D	0	.	14.3582	0.66752	0.1485:0.8515:0.0:0.0	.	1266	O95255	MRP6_HUMAN	K	1266;204	ENSP00000205557:E1266K	ENSP00000205557:E1266K	E	-	1	0	ABCC6	16159107	0.399000	0.25287	0.836000	0.33094	0.891000	0.51852	1.188000	0.32102	1.151000	0.42436	0.530000	0.56133	GAG		0.627	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			51	170	0	0	0	1	0	51	170					T	16251606	C	T	16251606	3	4	79	1	0	0	0	0	1	0	0	0	57	893	31	1	735	1	ABCC6	16	16251606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269179	16251606	74103147	16046	26363											
ABCC6	368	broad.mit.edu	37	chr16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggctgcagggcacagGcttctagtactctctccagc	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	728	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CAGGGCACAGGCTTCTAGTAC	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(2182-2184)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							86	81	82					16																	16276333		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276333G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2183C>T	16.37:g.16276333G>A	ENSP00000205557:p.Ala728Val					ABCC6_ENST00000574094.1_Intron	p.A728V	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2212	-			728			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.2183C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136748	0.56936	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.94046	-3.34;-3.34	4.62	4.62	0.57501	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48767	U	0.000164	D	0.94693	0.8288	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95589	0.8653	10	0.87932	D	0	.	16.2357	0.82371	0.0:0.0:1.0:0.0	.	728	O95255	MRP6_HUMAN	V	728	ENSP00000205557:A728V;ENSP00000405002:A728V	ENSP00000205557:A728V	A	-	2	0	ABCC6	16183834	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	6.247000	0.72411	2.113000	0.64589	0.491000	0.48974	GCC		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			11	354	0	0	0	1	0	11	354					A	16276333	G	A	16276333	3	1	79	1	0	0	0	0	1	0	0	0	57	1203	42	2	2388	2	ABCC6	16	16276333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24727	16276333	74078420	16047	26364											
XYLT1	64131	broad.mit.edu	37	chr16	17211831	17211831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggcatcccagtcagtGccgacctgaaacaggggagt	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	743					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGTCAGTGCCGACCTGAA	0.547																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2227-2229)ggC>ggT		xylosyltransferase I							55	49	51					16																	17211831		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211831G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2229C>T	16.37:g.17211831G>A							p.G743G	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			11	2313	-			743					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2229C>T	CCDS10569.1																																																																																				0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		25	211	0	0	0	1	0	25	211					A	17211831	G	A	17211831	2	1	79	1	0	0	0	0	0	0	0	1	17517	1306	46	2		2	XYLT1	16	17211831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935498	17211831	73142922	16048	26365											
XYLT1	64131	broad.mit.edu	37	chr16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctccccaatctcctggCggcagtgcttggacttagca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(829-831)cGc>cAc		xylosyltransferase I							68	63	65					16																	17352928		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17352928C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.830G>A	16.37:g.17352928C>T	ENSP00000261381:p.Arg277His						p.R277H	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	914	-			277					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.830G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823876	0.90873	.	.	ENSG00000103489	ENST00000261381	T	0.07216	3.21	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:1.0:0.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	H	277	ENSP00000261381:R277H	ENSP00000261381:R277H	R	-	2	0	XYLT1	17260429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.988000	0.70579	2.547000	0.85894	0.655000	0.94253	CGC		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		81	428	0	0	0	1	0	81	428					T	17352928	C	T	17352928	3	4	79	1	0	0	0	0	1	0	0	0	17517	768	27	1	2089	1	XYLT1	16	17352928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141097	17352928	73001825	16049	26366											
XYLT1	64131	broad.mit.edu	37	chr16	17353281	17353281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtcgacattctcaaaGtctttggggacagagttctc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	159					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTCTCAAAGTCTTTGGGGA	0.502																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(475-477)gaC>gaT		xylosyltransferase I							140	127	132					16																	17353281		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353281G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.477C>T	16.37:g.17353281G>A							p.D159D	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	561	-			159					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.477C>T	CCDS10569.1																																																																																				0.502	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		113	443	0	0	0	1	0	113	443					A	17353281	G	A	17353281	2	1	79	1	0	0	0	0	0	0	0	1	17517	1020	36	2		2	XYLT1	16	17353281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	17353281	73001472	16050	26367											
NOMO2	283820	broad.mit.edu	37	chr16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccatctcctgcacgggaGgcttggtcattctttcttca	8	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000381474.3	-	19	2272	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000330537.6_Missense_Mutation_p.P736H|NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557																																						ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(2206-2208)cCt>cAt		NODAL modulator 2							284	288	287					16																	18532153		2196	4298	6494	SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18532153G>T	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2207C>A	16.37:g.18532153G>T	ENSP00000370883:p.Pro736His					NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H|NOMO2_ENST00000381474.3_Missense_Mutation_p.P736H	p.P736H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			19	2377	-			736					Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	c.2207C>A	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163273	0.38217	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04119	3.72;3.71;3.7	3.37	2.4	0.29515	.	0.056200	0.64402	D	0.000001	T	0.07143	0.0181	N	0.08118	0	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.45293	-0.9271	10	0.46703	T	0.11	-11.1418	9.5696	0.39420	0.1064:0.0:0.8936:0.0	.	569;736	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	736;736;569	ENSP00000331851:P736H;ENSP00000370883:P736H;ENSP00000439970:P569H	ENSP00000331851:P736H	P	-	2	0	NOMO2	18439654	1.000000	0.71417	0.092000	0.20876	0.179000	0.23085	6.912000	0.75753	0.719000	0.32188	0.455000	0.32223	CCT		0.557	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		140	1072	1	0	1.66795e-42	1	2.03135e-42	140	1072					T	18532153	G	T	18532153	3	4	79	1	0	0	0	0	1	0	0	0	10574	1000	35	3	1656	3	NOMO2	16	18532153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1178872	18532153	71822600	16051	26368											
SMG1	23049	broad.mit.edu	37	chr16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggccagtgttactcCggactgctacagagaaagag	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					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)			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						AGTGTTACTCCGGACTGCTAC	0.473																																						ENST00000446231.2																			0				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						c.(10627-10629)cGg>cAg		SMG1 phosphatidylinositol 3-kinase-related kinase							96	87	90					16																	18823443		1976	4164	6140	SO:0001583	missense	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.chr16:18823443C>T	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.10628G>A	16.37:g.18823443C>T	ENSP00000402515:p.Arg3543Gln					SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q|RP11-1035H13.2_ENST00000569096.1_RNA	p.R3543Q			Q96Q15	SMG1_HUMAN			61	11040	-			3543					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10628G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943109	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01265	5.08;5.08	5.87	5.87	0.94306	.	0.094431	0.46758	D	0.000266	T	0.01730	0.0055	L	0.29908	0.895	0.34855	D	0.742045	P	0.49253	0.921	B	0.37780	0.258	T	0.68059	-0.5509	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3543	Q96Q15	SMG1_HUMAN	Q	3543;3544	ENSP00000402515:R3543Q;ENSP00000374118:R3544Q	ENSP00000374118:R3544Q	R	-	2	0	SMG1	18730944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.481000	0.60250	2.941000	0.99782	0.655000	0.94253	CGG		0.473	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		47	229	0	0	0	1	0	47	229					T	18823443	C	T	18823443	3	4	79	1	0	0	0	0	1	0	0	0	14845	652	23	1	369	1	SMG1	16	18823443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291290	18823443	71531310	16052	26369											
SMG1	23049	broad.mit.edu	37	chr16	18840938	18840938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccctatcaagagctgCctcacaaagtcagctgtgaa	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3091					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)			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						TCAAGAGCTGCCTCACAAAGT	0.458																																						ENST00000446231.2																			0				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						c.(9271-9273)agG>agA		SMG1 phosphatidylinositol 3-kinase-related kinase							57	57	57					16																	18840938		1907	4120	6027	SO:0001819	synonymous_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.chr16:18840938C>T	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.9273G>A	16.37:g.18840938C>T						SMG1_ENST00000389467.3_Silent_p.R3091R	p.R3091R			Q96Q15	SMG1_HUMAN			54	9685	-			3091					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.9273G>A	CCDS45430.1																																																																																				0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		30	154	0	0	0	1	0	30	154					T	18840938	C	T	18840938	2	4	79	1	0	0	0	0	0	0	0	1	14845	738	26	2		2	SMG1	16	18840938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17495	18840938	71513815	16053	26370											
SMG1	23049	broad.mit.edu	37	chr16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaggaactctaaggcTtttaccttgaaaagacaaat	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2364	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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						ACTCTAAGGCTTTTACCTTGA	0.343																																						ENST00000446231.2																			0				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						c.(7090-7092)Agc>Cgc		SMG1 phosphatidylinositol 3-kinase-related kinase							170	151	157					16																	18849783		1827	4089	5916	SO:0001583	missense	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.chr16:18849783T>G	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.7090A>C	16.37:g.18849783T>G	ENSP00000402515:p.Ser2364Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R	p.S2364R			Q96Q15	SMG1_HUMAN			44	7502	-			2364			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7090A>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078884	0.76528	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.74632	-0.86;-0.86	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.02842	-0.48	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71248	-0.4649	10	0.17369	T	0.5	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2364	Q96Q15	SMG1_HUMAN	R	2364	ENSP00000402515:S2364R;ENSP00000374118:S2364R	ENSP00000374118:S2364R	S	-	1	0	SMG1	18757284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.371000	0.80710	0.533000	0.62120	AGC		0.343	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		73	275	0	0	0	1	0	73	275					G	18849783	T	G	18849783	3	3	79	1	0	0	0	0	1	0	0	0	14845	1609	56	4	3975	4	SMG1	16	18849783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8845	18849783	71504970	16054	26371											
SMG1	23049	broad.mit.edu	37	chr16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagctgctcccaggctTtgcagggttcaatggagtct	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					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)			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						CTCCCAGGCTTTGCAGGGTTC	0.428																																						ENST00000446231.2																			0				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						c.(6187-6189)Aag>Gag		SMG1 phosphatidylinositol 3-kinase-related kinase							73	68	70					16																	18856783		1864	4100	5964	SO:0001583	missense	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.chr16:18856783T>C	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.6187A>G	16.37:g.18856783T>C	ENSP00000402515:p.Lys2063Glu					SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E	p.K2063E			Q96Q15	SMG1_HUMAN			39	6599	-			2063					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6187A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152266	0.78001	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01627	0.0052	L	0.38175	1.15	0.42668	D	0.993502	B;B	0.25809	0.135;0.039	B;B	0.25405	0.06;0.027	T	0.66056	-0.6018	10	0.31617	T	0.26	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1923;2063	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2063	ENSP00000402515:K2063E;ENSP00000374118:K2063E	ENSP00000374118:K2063E	K	-	1	0	SMG1	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		50	211	0	0	0	1	0	50	211					C	18856783	T	C	18856783	3	2	79	1	0	0	0	0	1	0	0	0	14845	1850	64	4	4898	4	SMG1	16	18856783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7000	18856783	71497970	16055	26372											
TMC7	79905	broad.mit.edu	37	chr16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcagtgctgggggcagcAggagtttgccattcctgata	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000304381.5	+	12	1737	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R	TMC7_ENST00000421369.3_Missense_Mutation_p.Q426R|TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	536					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1276-1278)cAg>cGg		transmembrane channel-like 7							230	229	229					16																	19058438		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19058438A>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1607A>G	16.37:g.19058438A>G	ENSP00000304710:p.Gln536Arg					TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R|TMC7_ENST00000304381.5_Missense_Mutation_p.Q536R	p.Q426R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1835	+			536					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1277A>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752720	0.89753	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64803	-0.12;-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.85373	2.75	0.58432	D	0.999997	D;P	0.53151	0.958;0.915	P;P	0.62560	0.904;0.885	D	0.83469	0.0058	10	0.72032	D	0.01	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	536;536	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	536;426	ENSP00000304710:Q536R;ENSP00000397081:Q426R	ENSP00000304710:Q536R	Q	+	2	0	TMC7	18965939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.146000	0.66826	0.533000	0.62120	CAG		0.532	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		282	1115	0	0	0	1	0	282	1115					G	19058438	A	G	19058438	3	3	79	1	0	0	0	0	1	0	0	0	16042	188	7	4	1653	4	TMC7	16	19058438	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201655	19058438	71296315	16056	26373											
SYT17	51760	broad.mit.edu	37	chr16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagaccggggtcaaaCgcaagacccagaagcccgtg	12	13	1	3	rs374172730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000355377.2	+	5	1143	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SYT17_ENST00000562034.1_Missense_Mutation_p.R188C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000568115.1_Missense_Mutation_p.R188C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGGGGTCAAACGCAAGACCCA	0.597																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(562-564)Cgc>Tgc		synaptotagmin XVII			CYS/ARG	0,4394		0,0,2197	125	114	118		745	5.7	1	16		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT17	NM_016524.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	249/475	19195263	1,12993	2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195263C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.745C>T	16.37:g.19195263C>T	ENSP00000347538:p.Arg249Cys					SYT17_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000355377.2_Missense_Mutation_p.R249C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C	p.R188C			Q9BSW7	SYT17_HUMAN			3	4360	+			249			C2 1.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.562C>T	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.855826	0.71834	0.0	1.16E-4	ENSG00000103528	ENST00000355377	T	0.70749	-0.51	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.74558	0.3732	M	0.65975	2.015	0.80722	D	1	B;B	0.24618	0.107;0.061	B;B	0.31946	0.095;0.138	T	0.73033	-0.4110	10	0.87932	D	0	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	249	ENSP00000347538:R249C	ENSP00000347538:R249C	R	+	1	0	SYT17	19102764	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.747000	0.62141	2.661000	0.90470	0.558000	0.71614	CGC		0.597	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		139	717	0	0	0	1	0	139	717					T	19195263	C	T	19195263	3	4	79	1	0	0	0	0	1	0	0	0	15525	536	19	1	763	1	SYT17	16	19195263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136825	19195263	71159490	16057	26374											
TMC5	79838	broad.mit.edu	37	chr16	19483470	19483470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttcaatcagctgctgaccCgcttctctgcctacatggta	8	14	3	1	rs142693954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19483470C>T	ENST00000396229.2	+	11	2592	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C|TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	615					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGCTGACCCGCTTCTCTGC	0.498																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1843-1845)Cgc>Tgc		transmembrane channel-like 5		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4394		0,0,2197	125	105	112		1843,1843,1105	5.8	0.7	16	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TMC5	NM_001105248.1,NM_001105249.1,NM_024780.4	180,180,180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	615/1007,615/949,369/761	19483470	1,12993	2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19483470C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1843C>T	16.37:g.19483470C>T	ENSP00000379531:p.Arg615Cys					TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C|TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C|TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C	p.R615C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			11	2592	+			615					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1843C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927650	0.34002	0.0	1.16E-4	ENSG00000103534	ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.78	5.78	0.91487	.	0.351915	0.33401	N	0.004956	T	0.50565	0.1623	M	0.71581	2.175	0.20975	N	0.999813	B;B;B;B;B	0.31351	0.056;0.32;0.214;0.106;0.171	B;B;B;B;B	0.27608	0.022;0.081;0.037;0.015;0.034	T	0.50866	-0.8777	10	0.51188	T	0.08	-4.4501	18.8356	0.92161	0.0:1.0:0.0:0.0	.	298;369;369;615;615	E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	C	615;615;615;369;298	ENSP00000370822:R615C;ENSP00000379531:R615C;ENSP00000446274:R615C;ENSP00000219821:R369C	ENSP00000219821:R369C	R	+	1	0	TMC5	19390971	0.098000	0.21812	0.721000	0.30653	0.034000	0.12701	4.026000	0.57232	2.737000	0.93849	0.650000	0.86243	CGC		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		9	598	0	0	0	1	0	9	598					T	19483470	C	T	19483470	3	4	79	1	0	0	0	0	1	0	0	0	16040	652	23	1	2191	1	TMC5	16	19483470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288207	19483470	70871283	16058	26375											
CP110	9738	broad.mit.edu	37	chr16	19547923	19547923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccactcaagcaagcaGcatgagtatgccagttttag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19547923G>A	ENST00000381396.5	+	4	1179	c.932G>A	c.(931-933)aGc>aAc	p.S311N	CCP110_ENST00000396212.2_Missense_Mutation_p.S311N|CCP110_ENST00000396208.2_Missense_Mutation_p.S311N	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	311					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCAAGCAGCATGAGTATG	0.413																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(931-933)aGc>aAc		centriolar coiled coil protein 110kDa							69	66	67					16																	19547923		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547923G>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.932G>A	16.37:g.19547923G>A	ENSP00000370803:p.Ser311Asn					CCP110_ENST00000396208.2_Missense_Mutation_p.S311N|CCP110_ENST00000381396.5_Missense_Mutation_p.S311N	p.S311N	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1368	+			311					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.932G>A	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720579	0.30503	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.20200	2.09;2.09;2.09	6.07	4.12	0.48240	.	0.159898	0.56097	N	0.000024	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.011;0.011	T	0.17289	-1.0374	10	0.37606	T	0.19	-0.1971	7.8014	0.29176	0.1759:0.0:0.7005:0.1235	.	311;311	O43303;O43303-2	CP110_HUMAN;.	N	311	ENSP00000379515:S311N;ENSP00000370803:S311N;ENSP00000379511:S311N	ENSP00000370803:S311N	S	+	2	0	CCP110	19455424	0.936000	0.31750	0.764000	0.31436	0.942000	0.58702	1.432000	0.34936	0.899000	0.36444	0.655000	0.94253	AGC		0.413	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		20	384	0	0	0	1	0	20	384					A	19547923	G	A	19547923	3	1	79	1	0	0	0	0	1	0	0	0	3797	971	34	2	942	2	CP110	16	19547923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64453	19547923	70806830	16059	26376											
CP110	9738	broad.mit.edu	37	chr16	19551989	19551989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttcagaaagcgaggaGttactaaaaagcaagatgtt	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19551989G>T	ENST00000381396.5	+	5	2176	c.1929G>T	c.(1927-1929)gaG>gaT	p.E643D	CCP110_ENST00000396212.2_Missense_Mutation_p.E643D|CCP110_ENST00000396208.2_Missense_Mutation_p.E643D	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	643					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAGCGAGGAGTTACTAAAAA	0.358																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(1927-1929)gaG>gaT		centriolar coiled coil protein 110kDa							63	62	63					16																	19551989		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19551989G>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1929G>T	16.37:g.19551989G>T	ENSP00000370803:p.Glu643Asp					CCP110_ENST00000396208.2_Missense_Mutation_p.E643D|CCP110_ENST00000381396.5_Missense_Mutation_p.E643D	p.E643D	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			6	2365	+			643					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1929G>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	9.226	1.034583	0.19590	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17691	2.26;2.26;2.26	6.04	0.00657	0.14068	.	0.389459	0.28016	N	0.016932	T	0.13884	0.0336	L	0.58101	1.795	0.09310	N	0.999998	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.16928	-1.0386	10	0.45353	T	0.12	-0.0396	4.6877	0.12765	0.305:0.0:0.3805:0.3145	.	643;643	O43303;O43303-2	CP110_HUMAN;.	D	643	ENSP00000379515:E643D;ENSP00000370803:E643D;ENSP00000379511:E643D	ENSP00000370803:E643D	E	+	3	2	CCP110	19459490	0.740000	0.28207	0.388000	0.26195	0.924000	0.55760	0.204000	0.17335	0.125000	0.18397	-0.156000	0.13503	GAG		0.358	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		26	140	1	0	3.73148e-12	1	3.99992e-12	26	140					T	19551989	G	T	19551989	3	4	79	1	0	0	0	0	1	0	0	0	3797	1020	36	3	1943	3	CP110	16	19551989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4066	19551989	70802764	16060	26377											
C16orf62	57020	broad.mit.edu	37	chr16	19702706	19702706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctctacgggggagaCtccaagttcctggcagaaaa	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000251143.5	+	29	2571	c.2559C>T	c.(2557-2559)gaC>gaT	p.D853D	C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000438132.3_Silent_p.D942D|C16orf62_ENST00000448695.1_Silent_p.D703D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	853						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGGGGGAGACTCCAAGTTCC	0.577																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2824-2826)gaC>gaT		chromosome 16 open reading frame 62							124	99	108					16																	19702706		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19702706C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2559C>T	16.37:g.19702706C>T						C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000251143.5_Silent_p.D853D|C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000417362.2_Silent_p.D760D	p.D942D	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			29	2874	+			853					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2826C>T																																																																																					0.577	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		50	149	0	0	0	1	0	50	149					T	19702706	C	T	19702706	2	4	79	1	0	0	0	0	0	0	0	1	1830	564	20	2		2	C16orf62	16	19702706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150717	19702706	70652047	16061	26378											
C16orf62	57020	broad.mit.edu	37	chr16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtttcaggccctgaagCgccagagctcgttgggcctt	12	12	2	2	rs377505002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000251143.5	+	30	2668	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R975C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	886						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCCTGAAGCGCCAGAGCTC	0.582																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2923-2925)Cgc>Tgc		chromosome 16 open reading frame 62		C	CYS/ARG	0,4394		0,0,2197	88	78	81		2923	4.6	1	16		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf62	NM_020314.5	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/1053	19710833	1,12993	2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19710833C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2656C>T	16.37:g.19710833C>T	ENSP00000251143:p.Arg886Cys					C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R886C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C	p.R975C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			30	2971	+			886					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2923C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.316318	0.81469	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.67698	-0.28;0.6;-0.28;0.6;-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59288	0.736;0.855	T	0.80603	-0.1309	9	.	.	.	-15.6426	17.699	0.88289	0.0:1.0:0.0:0.0	.	882;886	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	975;882;886;793;736	ENSP00000400815:R975C;ENSP00000442468:R882C;ENSP00000251143:R886C;ENSP00000395973:R793C;ENSP00000398009:R736C	.	R	+	1	0	C16orf62	19618334	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.790000	0.47821	2.225000	0.72522	0.561000	0.74099	CGC		0.582	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		36	207	0	0	0	1	0	36	207					T	19710833	C	T	19710833	3	4	79	1	0	0	0	0	1	0	0	0	1830	768	27	1	2774	1	C16orf62	16	19710833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8127	19710833	70643920	16062	26379											
IQCK	124152	broad.mit.edu	37	chr16	19838353	19838353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggattttccaggttcgCtgtgatcctgagattcaaga	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000320394.6	+	9	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000541926.1_Missense_Mutation_p.A204V	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	232										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448																																						ENST00000541926.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(610-612)gCt>gTt		IQ motif containing K							120	116	118					16																	19838353		2197	4300	6497	SO:0001819	synonymous_variant	124152							g.chr16:19838353C>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.696C>T	16.37:g.19838353C>T						IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000320394.6_Silent_p.R232R	p.204_204insV			Q8N0W5	IQCK_HUMAN			7	633	+			0					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.611C>T	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554189	0.45487	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.24	0.28232	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.34093	0.175	T	0.06935	-1.0799	6	.	.	.	-17.3005	3.5784	0.07943	0.0:0.4875:0.2148:0.2977	.	204	B4DXE1	.	V	204	.	.	A	+	2	0	IQCK	19745854	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	0.930000	0.28858	0.867000	0.35654	0.655000	0.94253	GCT		0.448	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		82	392	0	0	0	1	0	82	392					T	19838353	C	T	19838353	2	4	79	1	0	0	0	0	0	0	0	1	7843	784	28	2		2	IQCK	16	19838353	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127520	19838353	70516400	16063	26380											
GPRC5B	51704	broad.mit.edu	37	chr16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcatcctgggctgcgacGtgtcgaagtagttgggcgtg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	310					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(928-930)aCg>aTg		G protein-coupled receptor, family C, group 5, member B							82	75	78					16																	19883239		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883239G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.929C>T	16.37:g.19883239G>A	ENSP00000300571:p.Thr310Met					GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M	p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1120	-			310					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.929C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327035	0.81690	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	5.18	5.18	0.71444	.	0.056857	0.64402	D	0.000001	T	0.50667	0.1629	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.83275	0.877;0.996	T	0.35773	-0.9775	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	336;310	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	310;310;159;336	ENSP00000300571:T310M;ENSP00000442858:T310M;ENSP00000441775:T336M	.	T	-	2	0	GPRC5B	19790740	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.371000	0.79600	2.688000	0.91661	0.655000	0.94253	ACG		0.617	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			96	366	0	0	0	1	0	96	366					A	19883239	G	A	19883239	3	1	79	1	0	0	0	0	1	0	0	0	6755	1145	40	1	294	1	GPRC5B	16	19883239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44886	19883239	70471514	16064	26381											
GPRC5B	51704	broad.mit.edu	37	chr16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggccgccagcgtgatgGccaaggtggggtcgttccag	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	273					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(817-819)gCc>gTc		G protein-coupled receptor, family C, group 5, member B							70	76	74					16																	19883350		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883350G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.818C>T	16.37:g.19883350G>A	ENSP00000300571:p.Ala273Val					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V	p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1009	-			273					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.818C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551288	0.86127	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88431	-2.38;-2.38;-2.38	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.977	D	0.94209	0.7457	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	299;273	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	273;273;122;299	ENSP00000300571:A273V;ENSP00000442858:A273V;ENSP00000441775:A299V	.	A	-	2	0	GPRC5B	19790851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCC		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			57	214	0	0	0	1	0	57	214					A	19883350	G	A	19883350	3	1	79	1	0	0	0	0	1	0	0	0	6755	1203	42	2	405	2	GPRC5B	16	19883350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	19883350	70471403	16065	26382											
GPRC5B	51704	broad.mit.edu	37	chr16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtacatggtcatccaggCcacccagatgagcacagaga	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	249					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)Gcc>Acc		G protein-coupled receptor, family C, group 5, member B							103	106	105					16																	19883423		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883423C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.745G>A	16.37:g.19883423C>T	ENSP00000300571:p.Ala249Thr					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T	p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	936	-			249					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.745G>A	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	GPRC5B	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			25	223	0	0	0	1	0	25	223					T	19883423	C	T	19883423	3	4	79	1	0	0	0	0	1	0	0	0	6755	739	26	2	478	2	GPRC5B	16	19883423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	19883423	70471330	16066	26383											
GPRC5B	51704	broad.mit.edu	37	chr16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgatgaagggcagccGcaccaggaggatgagcatca	13	11	1	3	rs200327225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	80					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637																																						ENST00000300571.2																			1	Substitution - Missense(1)	p.R80W(1)	endometrium(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(238-240)Cgg>Tgg		G protein-coupled receptor, family C, group 5, member B		G	TRP/ARG	1,4393		0,1,2196	38	43	41		238	2.3	1	16		41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPRC5B	NM_016235.1	101	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	80/404	19883930	3,12991	2197	4300	6497	SO:0001583	missense	0							g.chr16:19883930G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.238C>T	16.37:g.19883930G>A	ENSP00000300571:p.Arg80Trp					GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W	p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	429	-			80					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.238C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446399	0.63178	2.28E-4	2.33E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89552	-2.53;-2.53;-2.53	5.8	2.32	0.28847	GPCR, family 3, C-terminal (1);	0.063725	0.64402	D	0.000012	D	0.92492	0.7616	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	P;D	0.87578	0.861;0.998	D	0.91511	0.5227	9	.	.	.	.	13.9379	0.64036	0.0:0.0:0.4665:0.5335	.	106;80	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	80;80;80;106	ENSP00000300571:R80W;ENSP00000442858:R80W;ENSP00000441775:R106W	.	R	-	1	2	GPRC5B	19791431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.630000	0.46494	0.737000	0.32582	0.655000	0.94253	CGG		0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			61	276	0	0	0	1	0	61	276					A	19883930	G	A	19883930	3	1	79	1	0	0	0	0	1	0	0	0	6755	1086	38	1	985	1	GPRC5B	16	19883930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	507	19883930	70470823	16067	26384											
GPR139	124274	broad.mit.edu	37	chr16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggctgtgttcagaagggCtagcatgttggcaatgtcgg	16	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552																																						ENST00000570682.1																			1	Substitution - Missense(1)	p.A274S(1)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(820-822)Gcc>Tcc		G protein-coupled receptor 139							88	89	89					16																	20043299		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043299C>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.820G>T	16.37:g.20043299C>A	ENSP00000458791:p.Ala274Ser						p.A274S	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1120	-			274					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.820G>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	GPR139	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC		0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		124	401	1	0	6.25824e-51	1	7.76101e-51	124	401					A	20043299	C	A	20043299	3	1	79	1	0	0	0	0	1	0	0	0	6677	797	28	3	245	3	GPR139	16	20043299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159369	20043299	70311454	16068	26385											
GPR139	124274	broad.mit.edu	37	chr16	20043354	20043354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcggttctggatgggCgccccatagaggtggtaaag	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(763-765)gcG>gcA		G protein-coupled receptor 139							61	65	64					16																	20043354		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043354C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.765G>A	16.37:g.20043354C>T							p.A255A	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1065	-			255					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.765G>A	CCDS32398.1																																																																																				0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		79	332	0	0	0	1	0	79	332					T	20043354	C	T	20043354	2	4	79	1	0	0	0	0	0	0	0	1	6677	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	20043354	70311399	16069	26386											
GPR139	124274	broad.mit.edu	37	chr16	20043983	20043983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggatgatcactgtcaAgatatttgctgtggagagaa	14	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	46					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATCACTGTCAAGATATTTGCT	0.473																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(136-138)Ttg>Ctg		G protein-coupled receptor 139							42	44	43					16																	20043983		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043983A>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.136T>C	16.37:g.20043983A>G							p.L46L	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	436	-			46					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.136T>C	CCDS32398.1																																																																																				0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		6	167	0	0	0	1	0	6	167					G	20043983	A	G	20043983	2	3	79	1	0	0	0	0	0	0	0	1	6677	69	3	4		4	GPR139	16	20043983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	629	20043983	70310770	16070	26387											
GP2	2813	broad.mit.edu	37	chr16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgatgaaatcattgAccaaggagagggtgtttttg	12	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(901-903)gTc>gCc		glycoprotein 2 (zymogen granule membrane)							449	418	429					16																	20331047		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331047A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.911T>C	16.37:g.20331047A>G	ENSP00000370767:p.Val304Ala					GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A	p.V301A			P55259	GP2_HUMAN			6	1051	-			304			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.902T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC		0.423	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		186	901	0	0	0	1	0	186	901					G	20331047	A	G	20331047	3	3	79	1	0	0	0	0	1	0	0	0	6611	275	10	4	726	4	GP2	16	20331047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287064	20331047	70023706	16071	26388											
UMOD	7369	broad.mit.edu	37	chr16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccattggctgtagggCggtcttcaggctgactttca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000570689.1	-	6	1458	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396134.2_Missense_Mutation_p.A471T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T			P07911	UROM_HUMAN	uromodulin	438	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1411-1413)Gcc>Acc		uromodulin							113	98	103					16																	20355365		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355365C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1312G>A	16.37:g.20355365C>T	ENSP00000460548:p.Ala438Thr					UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000570689.1_Missense_Mutation_p.A438T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T	p.A471T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1534	-			438			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1411G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343922	0.41498	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.49	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.137477	0.34110	N	0.004243	T	0.76659	0.4018	L	0.52364	1.645	0.19775	N	0.999956	P;P	0.40282	0.543;0.711	B;P	0.45610	0.18;0.487	T	0.67647	-0.5617	10	0.59425	D	0.04	-31.8589	7.0744	0.25197	0.3886:0.4834:0.0:0.128	.	471;438	E9PEA4;P07911	.;UROM_HUMAN	T	438;471;471;438;416;438	ENSP00000379438:A471T;ENSP00000416346:A471T;ENSP00000306279:A438T;ENSP00000379446:A438T	ENSP00000306279:A438T	A	-	1	0	UMOD	20262866	0.358000	0.24947	0.989000	0.46669	0.740000	0.42216	0.371000	0.20450	0.339000	0.23719	-0.264000	0.10439	GCC		0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			61	208	0	0	0	1	0	61	208					T	20355365	C	T	20355365	3	4	79	1	0	0	0	0	1	0	0	0	17033	768	27	1	634	1	UMOD	16	20355365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24318	20355365	69999388	16072	26389											
PDILT	204474	broad.mit.edu	37	chr16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgtattcgatcacaaaatCtgtaaggtgctgttttatga	9	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	256					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)			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						ATCACAAAATCTGTAAGGTGC	0.443																																						ENST00000302451.4																			0				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						c.(766-768)Gat>Tat		protein disulfide isomerase-like, testis expressed							216	205	208					16																	20384360		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20384360C>A		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.766G>T	16.37:g.20384360C>A	ENSP00000305465:p.Asp256Tyr						p.D256Y	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			6	1014	-			256					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.766G>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728574	0.48833	.	.	ENSG00000169340	ENST00000302451	T	0.30182	1.54	4.91	3.93	0.45458	Thioredoxin-like fold (3);	0.196686	0.52532	D	0.000075	T	0.46870	0.1415	L	0.59436	1.845	0.09310	N	0.999991	D	0.76494	0.999	D	0.65323	0.934	T	0.32214	-0.9915	10	0.72032	D	0.01	.	10.8628	0.46835	0.0:0.8095:0.1905:0.0	.	256	Q8N807	PDILT_HUMAN	Y	256	ENSP00000305465:D256Y	ENSP00000305465:D256Y	D	-	1	0	PDILT	20291861	0.040000	0.19996	0.186000	0.23195	0.862000	0.49288	1.154000	0.31688	1.223000	0.43536	0.563000	0.77884	GAT		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		134	582	1	0	2.34035e-62	1	2.94954e-62	134	582					A	20384360	C	A	20384360	3	1	79	1	0	0	0	0	1	0	0	0	11716	913	32	3	1016	3	PDILT	16	20384360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28995	20384360	69970393	16073	26390											
ACSM5	54988	broad.mit.edu	37	chr16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacctctacctgttcCtcagaagatcgtggccacct	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	32					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(94-96)cCt>cAt		acyl-CoA synthetase medium-chain family member 5							90	75	80					16																	20422901		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20422901C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.95C>A	16.37:g.20422901C>A	ENSP00000327916:p.Pro32His					ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			2	242	+			32					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.95C>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879921	0.33162	.	.	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.69	3.74	0.42951	.	1.094530	0.07036	N	0.829339	T	0.44222	0.1283	L	0.46157	1.445	0.21355	N	0.999718	B	0.28933	0.228	B	0.29176	0.099	T	0.34527	-0.9825	10	0.34782	T	0.22	-6.7651	10.9456	0.47299	0.0:0.9118:0.0:0.0882	.	32	Q6NUN0	ACSM5_HUMAN	H	32	ENSP00000327916:P32H	ENSP00000327916:P32H	P	+	2	0	ACSM5	20330402	0.007000	0.16637	0.277000	0.24703	0.061000	0.15899	1.969000	0.40510	1.187000	0.43000	-0.140000	0.14226	CCT		0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		50	205	1	0	1.86633e-21	1	2.10207e-21	50	205					A	20422901	C	A	20422901	3	1	79	1	0	0	0	0	1	0	0	0	187	681	24	3	97	3	ACSM5	16	20422901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38541	20422901	69931852	16074	26391											
ACSM5	54988	broad.mit.edu	37	chr16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaccagtgactccctagCtccaagggtggatgccatca	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	173					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACTCCCTAGCTCCAAGGGTG	0.582																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(517-519)gCt>gTt		acyl-CoA synthetase medium-chain family member 5							88	73	78					16																	20430652		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430652C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.518C>T	16.37:g.20430652C>T	ENSP00000327916:p.Ala173Val					ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			4	665	+			173					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.518C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946946	0.53186	.	.	ENSG00000183549	ENST00000331849	T	0.50001	0.76	4.65	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.44329	0.1288	L	0.39147	1.195	0.40815	D	0.983451	P	0.45396	0.857	P	0.48400	0.576	T	0.37820	-0.9689	10	0.42905	T	0.14	-11.2626	9.1503	0.36959	0.0:0.8309:0.0:0.1691	.	173	Q6NUN0	ACSM5_HUMAN	V	173	ENSP00000327916:A173V	ENSP00000327916:A173V	A	+	2	0	ACSM5	20338153	0.994000	0.37717	0.897000	0.35233	0.471000	0.32888	3.242000	0.51384	1.303000	0.44873	0.650000	0.86243	GCT		0.582	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		63	227	0	0	0	1	0	63	227					T	20430652	C	T	20430652	3	4	79	1	0	0	0	0	1	0	0	0	187	797	28	2	528	2	ACSM5	16	20430652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7751	20430652	69924101	16075	26392											
ACSM5	54988	broad.mit.edu	37	chr16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatccatggggaaggCgtccccaccctacgatgtgc	13	13	1	0	rs113178652	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1183-1185)gCg>gTg		acyl-CoA synthetase medium-chain family member 5							196	180	186					16																	20442373		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442373C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1184C>T	16.37:g.20442373C>T	ENSP00000327916:p.Ala395Val						p.A395V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			9	1331	+			395					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1184C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582553	0.65992	.	.	ENSG00000183549	ENST00000331849	T	0.40756	1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000069	T	0.57814	0.2079	L	0.59436	1.845	0.42229	D	0.991882	D	0.89917	1.0	P	0.61397	0.888	T	0.63915	-0.6529	10	0.72032	D	0.01	-15.9681	16.0686	0.80907	0.0:1.0:0.0:0.0	.	395	Q6NUN0	ACSM5_HUMAN	V	395	ENSP00000327916:A395V	ENSP00000327916:A395V	A	+	2	0	ACSM5	20349874	0.921000	0.31238	0.901000	0.35422	0.230000	0.25150	3.621000	0.54210	2.119000	0.64992	0.650000	0.86243	GCG		0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		179	930	0	0	0	1	0	179	930					T	20442373	C	T	20442373	3	4	79	1	0	0	0	0	1	0	0	0	187	768	27	1	1214	1	ACSM5	16	20442373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11721	20442373	69912380	16076	26393											
ACSM5	54988	broad.mit.edu	37	chr16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacaggggaccgagctcGcatggacaaggatggctact	13	11	1	0	rs141553052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	458					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21785	0.0		0.001	False		,,,				2504	0.0					ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1372-1374)cGc>cAc		acyl-CoA synthetase medium-chain family member 5		G	HIS/ARG	0,4406		0,0,2203	181	166	171		1373	-10.3	0	16	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	458/580	20448438	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448438G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1373G>A	16.37:g.20448438G>A	ENSP00000327916:p.Arg458His						p.R458H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			11	1520	+			458					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1373G>A	CCDS10585.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	8.711	0.911994	0.17907	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.50548	0.74	5.15	-10.3	0.00346	AMP-dependent synthetase/ligase (1);	1.371240	0.04612	N	0.400456	T	0.24005	0.0581	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06789	-1.0807	10	0.22706	T	0.39	-0.8747	3.6884	0.08336	0.19:0.0888:0.4284:0.2928	.	458	Q6NUN0	ACSM5_HUMAN	H	458	ENSP00000327916:R458H	ENSP00000327916:R458H	R	+	2	0	ACSM5	20355939	0.000000	0.05858	0.006000	0.13384	0.835000	0.47333	-0.596000	0.05720	-2.007000	0.00956	-0.781000	0.03364	CGC		0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		61	638	0	0	0	1	0	61	638					A	20448438	G	A	20448438	3	1	79	1	0	0	0	0	1	0	0	0	187	1087	38	1	1411	1	ACSM5	16	20448438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6065	20448438	69906315	16077	26394											
ACSM2A	123876	broad.mit.edu	37	chr16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaaaacagccagcaggCagccaacgtcctctcgggag	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2A							126	112	117					16																	20476939		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476939C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.278C>T	16.37:g.20476939C>T	ENSP00000459451:p.Ala93Val					ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V	p.A93V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	392	+			93					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.278C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860063	0.32884	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.76	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.15089	0.0364	N	0.17312	0.475	0.23174	N	0.998176	B;B	0.34290	0.174;0.447	B;B	0.26202	0.046;0.067	T	0.20505	-1.0273	10	0.02654	T	1	-0.3522	7.392	0.26915	0.0:0.6887:0.0:0.3113	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	14;93;93;93	ENSP00000392169:A14V;ENSP00000219054:A93V;ENSP00000394904:A93V;ENSP00000379411:A93V	ENSP00000219054:A93V	A	+	2	0	ACSM2A	20384440	0.010000	0.17322	0.051000	0.19133	0.453000	0.32348	0.333000	0.19768	0.200000	0.20447	0.298000	0.19748	GCA		0.612	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		26	341	0	0	0	1	0	26	341					T	20476939	C	T	20476939	3	4	79	1	0	0	0	0	1	0	0	0	183	710	25	2	284	2	ACSM2A	16	20476939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28501	20476939	69877814	16078	26395											
ACSM2B	348158	broad.mit.edu	37	chr16	20559396	20559396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggtaccgtttctgtctgGccatagaattctcggatgtc	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.G283G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	362					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1084-1086)ggC>ggA		acyl-CoA synthetase medium-chain family member 2B							159	162	161					16																	20559396		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20559396G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1086C>A	16.37:g.20559396G>T						ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000565232.1_Silent_p.G362G	p.G362G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			8	1254	-			362					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1086C>A	CCDS10586.1																																																																																				0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		186	1035	1	0	5.75948e-69	1	7.30583e-69	186	1035					T	20559396	G	T	20559396	2	4	79	1	0	0	0	0	0	0	0	1	184	1190	42	3		3	ACSM2B	16	20559396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82457	20559396	69795357	16079	26396											
ACSM2B	348158	broad.mit.edu	37	chr16	20570669	20570669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgagaggatgttggctGcctgctggctgttttcactc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	ENST00000329697.6	-	3	446	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATGTTGGCTGCCTGCTGGCT	0.602																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2B							25	21	22					16																	20570669		2201	4284	6485	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570669G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.278C>T	16.37:g.20570669G>A	ENSP00000327453:p.Ala93Val					ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V	p.A93V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	446	-			93					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.278C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022450	0.08006	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.37411	1.2;1.2	3.51	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.16342	0.0393	N	0.17082	0.46	0.22639	N	0.998907	B;B	0.34290	0.447;0.447	B;B	0.26202	0.067;0.067	T	0.13150	-1.0520	10	0.02654	T	1	-0.3522	9.68	0.40065	0.1073:0.0:0.8927:0.0	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	V	93	ENSP00000327453:A93V;ENSP00000390378:A93V	ENSP00000327453:A93V	A	-	2	0	ACSM2B	20478170	0.000000	0.05858	0.040000	0.18447	0.013000	0.08279	0.468000	0.22051	0.685000	0.31468	-0.192000	0.12808	GCA		0.602	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		25	91	0	0	0	1	0	25	91					A	20570669	G	A	20570669	3	1	79	1	0	0	0	0	1	0	0	0	184	1319	46	2	1503	2	ACSM2B	16	20570669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11273	20570669	69784084	16080	26397											
ACSM1	116285	broad.mit.edu	37	chr16	20681260	20681260	+	Silent	SNP	C	C	T													gccacaatccatcctgagtcCgacaggcaccaggagacatc					rs577881935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	267					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.S267S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20004	0.001		0.0	False		,,,				2504	0.0					ENST00000307493.4																			1	Substitution - coding silent(1)	p.S267S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(799-801)tcG>tcA		acyl-CoA synthetase medium-chain family member 1							141	120	127					16																	20681260		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.chr16:20681260C>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.801G>A	16.37:g.20681260C>T						ACSM1_ENST00000520010.1_Silent_p.S267S|ACSM1_ENST00000219151.4_5'UTR	p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			5	868	-			267					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.801G>A	CCDS10587.1																																																																																				0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		50	223	0	0	0	1	0	50	223					T	20681260	C	T	20681260	2	4	79	1	0	0	0	0	0	0	0	1	182	639	23	1		1	ACSM1	16	20681260	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110591	20681260	69673493	16081	26398	166	2									
ACSM1	116285	broad.mit.edu	37	chr16	20681265	20681265	+	Missense_Mutation	SNP	G	G	T													aatccatcctgagtccgacaGgcaccaggagacatcagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000307493.4	-	5	863	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ACSM1_ENST00000219151.4_De_novo_Start_InFrame|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	266					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)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGTCCGACAGGCACCAGGAG	0.507																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42								acyl-CoA synthetase medium-chain family member 1							139	120	127					16																	20681265		2201	4300	6501	SO:0001583	missense	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.chr16:20681265G>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.796C>A	16.37:g.20681265G>T	ENSP00000301956:p.Leu266Met					ACSM1_ENST00000307493.4_Missense_Mutation_p.L266M|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M				Q08AH1	ACSM1_HUMAN			0	863	-								Q08AH2|Q96A20	Translation_Start_Site	SNP	ENST00000307493.4	37		CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252155	0.22880	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.44083	0.93;0.93	5.05	-9.56	0.00566	AMP-dependent synthetase/ligase (1);	1.387560	0.05286	N	0.520143	T	0.21550	0.0519	N	0.25789	0.76	0.25753	N	0.985031	B	0.21606	0.058	B	0.21917	0.037	T	0.12400	-1.0549	10	0.23302	T	0.38	.	4.6505	0.12592	0.0689:0.3267:0.2181:0.3862	.	266	Q08AH1	ACSM1_HUMAN	M	266	ENSP00000301956:L266M;ENSP00000428047:L266M	ENSP00000301956:L266M	L	-	1	2	ACSM1	20588766	0.000000	0.05858	0.023000	0.16930	0.376000	0.30014	-2.590000	0.00899	-1.145000	0.02858	0.514000	0.50259	CTG		0.507	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		9	253	1	0	0.00621372	1	0.0062537	9	253					T	20681265	G	T	20681265	3	4	79	1	0	0	0	0	1	0	0	0	182	991	35	3	973	3	ACSM1	16	20681265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	20681265	69673488	16082	26399	166	2									
ACSM3	6296	broad.mit.edu	37	chr16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtaattctgattctgcccAgggtcccagagtggtggctt	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(385-387)Agg>Ggg		acyl-CoA synthetase medium-chain family member 3							86	88	87					16																	20787326		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787326A>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.385A>G	16.37:g.20787326A>G	ENSP00000289416:p.Arg129Gly					ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G|ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G	p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			3	860	+			129					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.385A>G	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895802	0.72639	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52526	0.66;0.66;0.66	5.81	2.05	0.26809	AMP-dependent synthetase/ligase (1);	0.303746	0.33732	N	0.004619	T	0.65101	0.2659	M	0.89353	3.025	0.34674	D	0.724058	P;D;D	0.63880	0.675;0.99;0.993	P;P;P	0.60117	0.672;0.869;0.864	T	0.75519	-0.3289	10	0.72032	D	0.01	-10.5388	8.1248	0.30992	0.3688:0.5437:0.0876:0.0	.	84;129;129	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	G	129;129;84	ENSP00000289416:R129G;ENSP00000394565:R129G;ENSP00000395297:R84G	ENSP00000289416:R129G	R	+	1	2	ACSM3	20694827	0.843000	0.29541	1.000000	0.80357	0.869000	0.49853	0.962000	0.29280	1.004000	0.39156	0.383000	0.25322	AGG		0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		84	324	0	0	0	1	0	84	324					G	20787326	A	G	20787326	3	3	79	1	0	0	0	0	1	0	0	0	185	179	7	4	391	4	ACSM3	16	20787326	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106061	20787326	69567427	16083	26400											
LOC81691	81691	broad.mit.edu	37	chr16	20851745	20851745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaggctgtttaaaagCtttggcccagtccagtcaat	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20851745C>A	ENST00000261377.6	+	15	1790	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	AC004381.6_ENST00000564274.1_Missense_Mutation_p.S527R|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.S527R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGTTTAAAAGCTTTGGCCCAG	0.418																																						ENST00000261377.6																			0											c.(1579-1581)agC>agA									115	117	116					16																	20851745		2201	4300	6501	SO:0001583	missense	0							g.chr16:20851745C>A																												ENST00000261377.6:c.1581C>A	16.37:g.20851745C>A	ENSP00000261377:p.Ser527Arg					AC004381.6_ENST00000348433.6_Missense_Mutation_p.S527R|AC004381.6_ENST00000564274.1_Missense_Mutation_p.S527R|ERI2_ENST00000564349.1_Intron	p.S527R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					15	1790	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1581C>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310552	0.40895	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31769	1.48;2.36	5.3	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.205916	0.44285	D	0.000473	T	0.30262	0.0759	M	0.68952	2.095	0.29895	N	0.8249	P;P	0.36412	0.552;0.479	B;B	0.39771	0.157;0.309	T	0.18241	-1.0343	10	0.19590	T	0.45	-12.2883	6.6738	0.23083	0.0:0.7193:0.1806:0.1001	.	527;527	Q96IC2-2;Q96IC2	.;REXON_HUMAN	R	527	ENSP00000261378:S527R;ENSP00000261377:S527R	ENSP00000261377:S527R	S	+	3	2	AC004381.6	20759246	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	0.747000	0.26290	1.182000	0.42928	0.561000	0.74099	AGC		0.418	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			121	431	1	0	6.10253e-70	1	7.74761e-70	121	431					A	20851745	C	A	20851745	3	1	79	1	0	0	0	0	1	0	0	0	8928	796	28	3	1635	3	LOC81691	16	20851745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64419	20851745	69503008	16084	26401											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcacctctcccttccccttCtcttttccttcgctccattt	2	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	284					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(850-852)Gaa>Aaa		DCN1, defective in cullin neddylation 1, domain containing 3							72	64	67					16																	20871273		2201	4300	6501	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871273C>T	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.850G>A	16.37:g.20871273C>T	ENSP00000319482:p.Glu284Lys					DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K|ERI2_ENST00000564349.1_Intron	p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	1135	-			284					B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.850G>A	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153360	0.57259	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.134496	0.64402	D	0.000003	T	0.51736	0.1692	L	0.34521	1.04	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.51196	-0.8736	9	0.06494	T	0.89	-27.7325	20.6634	0.99662	0.0:1.0:0.0:0.0	.	284	Q8IWE4	DCNL3_HUMAN	K	284	.	ENSP00000319482:E284K	E	-	1	0	DCUN1D3	20778774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.894000	0.99253	0.655000	0.94253	GAA		0.567	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		23	189	0	0	0	1	0	23	189					T	20871273	C	T	20871273	3	4	79	1	0	0	0	0	1	0	0	0	4326	922	32	2	68	2	DCUN1D3	16	20871273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19528	20871273	69483480	16085	26402											
DNAH3	55567	broad.mit.edu	37	chr16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagtgacagcaggagaCgccggtctttgtcatcagtc	12	10	3	3	rs187501827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3745					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)			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)		CAGCAGGAGACGCCGGTCTTT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18798	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				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						c.(11233-11235)cGt>cAt		dynein, axonemal, heavy chain 3							103	91	95					16																	20959914		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.chr16:20959914C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11234G>A	16.37:g.20959914C>T	ENSP00000261383:p.Arg3745His					DNAH3_ENST00000415178.1_3'UTR	p.R3745H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	57	11233	-			3745					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11234G>A	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.103288	0.94245	.	.	ENSG00000158486	ENST00000261383	T	0.12984	2.63	5.9	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	10	0.72032	D	0.01	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	3745	Q8TD57	DYH3_HUMAN	H	3745	ENSP00000261383:R3745H	ENSP00000261383:R3745H	R	-	2	0	DNAH3	20867415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.482000	0.48325	0.650000	0.86243	CGT		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		39	146	0	0	0	1	0	39	146					T	20959914	C	T	20959914	3	4	79	1	0	0	0	0	1	0	0	0	4619	536	19	1	1139	1	DNAH3	16	20959914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88641	20959914	69394839	16086	26403											
DNAH3	55567	broad.mit.edu	37	chr16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcttttgccacatcaccGcctttgcacagctttggaag	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3664	AAA 6. {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)			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)		CCACATCACCGCCTTTGCACA	0.527																																						ENST00000261383.3																			0				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						c.(10990-10992)gCg>gTg		dynein, axonemal, heavy chain 3							130	125	127					16																	20966215		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.chr16:20966215G>A	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.10991C>T	16.37:g.20966215G>A	ENSP00000261383:p.Ala3664Val					DNAH3_ENST00000415178.1_3'UTR	p.A3664V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10990	-			3664			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10991C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828909	0.16749	.	.	ENSG00000158486	ENST00000261383	T	0.08720	3.06	5.43	2.3	0.28687	Dynein heavy chain (1);	0.362903	0.27236	N	0.020283	T	0.02848	0.0085	N	0.02192	-0.645	0.09310	N	1	B	0.30439	0.279	B	0.27887	0.084	T	0.43925	-0.9361	10	0.30078	T	0.28	.	6.8303	0.23907	0.0693:0.1285:0.6688:0.1335	.	3664	Q8TD57	DYH3_HUMAN	V	3664	ENSP00000261383:A3664V	ENSP00000261383:A3664V	A	-	2	0	DNAH3	20873716	0.008000	0.16893	0.010000	0.14722	0.242000	0.25591	1.261000	0.32980	0.229000	0.21039	0.655000	0.94253	GCG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		160	571	0	0	0	1	0	160	571					A	20966215	G	A	20966215	3	1	79	1	0	0	0	0	1	0	0	0	4619	1087	38	1	1390	1	DNAH3	16	20966215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6301	20966215	69388538	16087	26404											
DNAH3	55567	broad.mit.edu	37	chr16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcctcatggggccaggCcgagtcatagatcagcttcc	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3453					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)			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)		TGGGGCCAGGCCGAGTCATAG	0.527																																						ENST00000261383.3																			0				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						c.(10357-10359)Gcc>Tcc		dynein, axonemal, heavy chain 3							95	77	83					16																	20974849		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.chr16:20974849C>A	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.10357G>T	16.37:g.20974849C>A	ENSP00000261383:p.Ala3453Ser					DNAH3_ENST00000415178.1_3'UTR	p.A3453S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10356	-			3453					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10357G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031049	0.02029	.	.	ENSG00000158486	ENST00000261383	T	0.08102	3.13	5.39	2.25	0.28309	Dynein heavy chain (1);	0.299368	0.30575	N	0.009337	T	0.02970	0.0088	N	0.04297	-0.235	0.21020	N	0.99981	B	0.11235	0.004	B	0.20384	0.029	T	0.46762	-0.9168	10	0.09338	T	0.73	.	5.3477	0.16018	0.2812:0.5656:0.0:0.1533	.	3453	Q8TD57	DYH3_HUMAN	S	3453	ENSP00000261383:A3453S	ENSP00000261383:A3453S	A	-	1	0	DNAH3	20882350	0.987000	0.35691	0.761000	0.31378	0.782000	0.44232	2.256000	0.43231	0.210000	0.20664	0.563000	0.77884	GCC		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		65	215	1	0	2.89935e-36	1	3.46963e-36	65	215					A	20974849	C	A	20974849	3	1	79	1	0	0	0	0	1	0	0	0	4619	739	26	3	2032	3	DNAH3	16	20974849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8634	20974849	69379904	16088	26405											
DNAH3	55567	broad.mit.edu	37	chr16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgctcagggtgaaatggTcaatgatgtacttgatgcgc	13	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3351					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)			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)		GGTGAAATGGTCAATGATGTA	0.473																																						ENST00000261383.3																			0				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						c.(10051-10053)gAc>gGc		dynein, axonemal, heavy chain 3							174	133	147					16																	20975154		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.chr16:20975154T>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.10052A>G	16.37:g.20975154T>C	ENSP00000261383:p.Asp3351Gly					DNAH3_ENST00000415178.1_3'UTR	p.D3351G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10051	-			3351					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10052A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	7.842	0.722045	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.61980	0.06	5.78	5.78	0.91487	.	0.343223	0.30401	N	0.009716	T	0.66396	0.2785	M	0.87328	2.875	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.67741	-0.5592	10	0.72032	D	0.01	.	10.4542	0.44539	0.0:0.0724:0.0:0.9276	.	3351	Q8TD57	DYH3_HUMAN	G	3351	ENSP00000261383:D3351G	ENSP00000261383:D3351G	D	-	2	0	DNAH3	20882655	0.878000	0.30173	0.693000	0.30195	0.054000	0.15201	2.893000	0.48633	2.207000	0.71202	0.460000	0.39030	GAC		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		114	482	0	0	0	1	0	114	482					C	20975154	T	C	20975154	3	2	79	1	0	0	0	0	1	0	0	0	4619	1667	58	4	2337	4	DNAH3	16	20975154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305	20975154	69379599	16089	26406											
DNAH3	55567	broad.mit.edu	37	chr16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagttgaggagacagacCttcacggcaacttctgggag	13	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3188	AAA 5. {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)			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)		GGAGACAGACCTTCACGGCAA	0.473																																						ENST00000261383.3																			0				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						c.(9562-9564)aaG>aaT		dynein, axonemal, heavy chain 3							88	86	86					16																	20975642		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.chr16:20975642C>A	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.9564G>T	16.37:g.20975642C>A	ENSP00000261383:p.Lys3188Asn					DNAH3_ENST00000415178.1_3'UTR	p.K3188N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9563	-			3188			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9564G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858220	0.51376	.	.	ENSG00000158486	ENST00000261383	T	0.22743	1.94	6.03	-0.0983	0.13629	.	0.112712	0.64402	D	0.000012	T	0.55386	0.1917	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64605	-0.6368	10	0.87932	D	0	.	10.7353	0.46122	0.0:0.3047:0.0:0.6953	.	3188	Q8TD57	DYH3_HUMAN	N	3188	ENSP00000261383:K3188N	ENSP00000261383:K3188N	K	-	3	2	DNAH3	20883143	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.073000	0.30691	-0.046000	0.13446	-0.294000	0.09567	AAG		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		122	388	1	0	1.45418e-49	1	1.79884e-49	122	388					A	20975642	C	A	20975642	3	1	79	1	0	0	0	0	1	0	0	0	4619	680	24	3	2825	3	DNAH3	16	20975642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488	20975642	69379111	16090	26407											
DNAH3	55567	broad.mit.edu	37	chr16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaccagcttttgggaGcagatttcaatgttttcctc	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2960	Stalk. {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)			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)		GCTTTTGGGAGCAGATTTCAA	0.517																																						ENST00000261383.3																			0				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						c.(8878-8880)tgC>tgA		dynein, axonemal, heavy chain 3							153	146	148					16																	20976326		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976326G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8880C>A	16.37:g.20976326G>T	ENSP00000261383:p.Cys2960*					DNAH3_ENST00000415178.1_3'UTR	p.C2960*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8879	-			2960			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.8880C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	46	12.098613	0.99636	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.93	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9877	0.47530	0.4789:0.0:0.5211:0.0	.	.	.	.	X	2960	.	ENSP00000261383:C2960X	C	-	3	2	DNAH3	20883827	0.989000	0.36119	0.892000	0.35008	0.016000	0.09150	0.209000	0.17435	-0.384000	0.07845	-0.136000	0.14681	TGC		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		169	692	1	0	7.28047e-80	1	9.30738e-80	169	692					T	20976326	G	T	20976326	4	4	79	1	0	0	0	0	0	1	0	0	4619	963	34	3	3509	3	DNAH3	16	20976326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	20976326	69378427	16091	26408											
DNAH3	55567	broad.mit.edu	37	chr16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcacagacttgacagcgCgcataccgtagtcatagtga	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1. {ECO:0000250}.			YGMR -> FGLH (in Ref. 5; CAB06059). {ECO:0000305}.	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)			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)		CTTGACAGCGCGCATACCGTA	0.522																																						ENST00000261383.3																			0				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						c.(4810-4812)cGc>cAc		dynein, axonemal, heavy chain 3							124	97	106					16																	21049222		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.chr16:21049222C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4811G>A	16.37:g.21049222C>T	ENSP00000261383:p.Arg1604His					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4810	-			1604	YGMR -> FGLH (in Ref. 5; CAB06059).		AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4811G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393775	0.96009	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93649	0.6971	10	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	1604	Q8TD57	DYH3_HUMAN	H	1604	ENSP00000261383:R1604H;ENSP00000394245:R1604H	ENSP00000261383:R1604H	R	-	2	0	DNAH3	20956723	1.000000	0.71417	0.986000	0.45419	0.814000	0.46013	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	CGC		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	166	0	0	0	1	0	45	166					T	21049222	C	T	21049222	3	4	79	1	0	0	0	0	1	0	0	0	4619	768	27	1	7654	1	DNAH3	16	21049222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72896	21049222	69305531	16092	26409											
DNAH3	55567	broad.mit.edu	37	chr16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacaaggtcttgatcagtTtatacgttgtcctccacata	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	912	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)			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)		CTTGATCAGTTTATACGTTGT	0.463																																						ENST00000261383.3																			0				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						c.(2734-2736)aAa>aCa		dynein, axonemal, heavy chain 3							245	220	229					16																	21098312		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.chr16:21098312T>G	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.2735A>C	16.37:g.21098312T>G	ENSP00000261383:p.Lys912Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2734	-			912			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2735A>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255099	0.59321	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63417	-0.04;-0.04	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84403	0.0561	10	0.66056	D	0.02	.	15.7487	0.77967	0.0:0.0:0.0:1.0	.	912	Q8TD57	DYH3_HUMAN	T	912	ENSP00000261383:K912T;ENSP00000394245:K912T	ENSP00000261383:K912T	K	-	2	0	DNAH3	21005813	1.000000	0.71417	0.582000	0.28627	0.133000	0.20885	7.576000	0.82467	2.126000	0.65437	0.533000	0.62120	AAA		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		160	689	0	0	0	1	0	160	689					G	21098312	T	G	21098312	3	3	79	1	0	0	0	0	1	0	0	0	4619	1841	64	4	9790	4	DNAH3	16	21098312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49090	21098312	69256441	16093	26410											
TMEM159	57146	broad.mit.edu	37	chr16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaccctggctgctctgCtgggggtcataatattggaa	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000233047.4	+	3	712	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458																																						ENST00000233047.4																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(244-246)Ctg>Atg		transmembrane protein 159							188	154	166					16																	21181905		2200	4300	6500	SO:0001583	missense	57146					integral to membrane		g.chr16:21181905C>A	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.244C>A	16.37:g.21181905C>A	ENSP00000233047:p.Leu82Met					TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M	p.L82M			Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	3	712	+			82					A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	37	c.244C>A	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	C	5.328	0.245831	0.10077	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.18810	2.19;2.19;2.19	5.48	0.112	0.14623	.	0.453294	0.21551	N	0.072728	T	0.07954	0.0199	N	0.11255	0.115	0.25155	N	0.990391	B;B	0.22003	0.053;0.063	B;B	0.20955	0.032;0.013	T	0.19031	-1.0318	10	0.36615	T	0.2	-4.6191	1.3316	0.02136	0.2386:0.2792:0.3437:0.1385	.	106;82	B4DEC1;Q96B96	.;TM159_HUMAN	M	82;82;106	ENSP00000233047:L82M;ENSP00000261388:L82M;ENSP00000409879:L106M	ENSP00000233047:L82M	L	+	1	2	TMEM159	21089406	0.966000	0.33281	0.822000	0.32727	0.061000	0.15899	0.354000	0.20146	0.026000	0.15269	-0.147000	0.13772	CTG		0.458	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		134	455	1	0	4.09057e-56	1	5.11717e-56	134	455					A	21181905	C	A	21181905	3	1	79	1	0	0	0	0	1	0	0	0	16126	796	28	3	250	3	TMEM159	16	21181905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83593	21181905	69172848	16094	26411											
ANKS4B	257629	broad.mit.edu	37	chr16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgcagctgatgaagaGggagaggaaaacggcctcaa	17	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	319					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(955-957)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 4B							151	160	157					16																	21261844		2089	4223	6312	SO:0001583	missense	257629							g.chr16:21261844G>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.957G>T	16.37:g.21261844G>T	ENSP00000308772:p.Glu319Asp						p.E319D	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1030	+			319						Missense_Mutation	SNP	ENST00000311620.5	37	c.957G>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058951	0.01950	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.87	0.135	0.14775	.	0.583457	0.18380	N	0.142989	T	0.30386	0.0763	L	0.60455	1.87	0.32789	N	0.501461	B	0.15930	0.015	B	0.14578	0.011	T	0.31420	-0.9944	10	0.12430	T	0.62	-7.3885	5.6077	0.17389	0.3447:0.2906:0.3646:0.0	.	319	Q8N8V4	ANS4B_HUMAN	D	319	ENSP00000308772:E319D	ENSP00000308772:E319D	E	+	3	2	ANKS4B	21169345	0.000000	0.05858	0.282000	0.24776	0.009000	0.06853	-0.491000	0.06474	0.053000	0.16036	-0.283000	0.09986	GAG		0.507	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		39	196	1	0	4.14481e-20	1	4.63599e-20	39	196					T	21261844	G	T	21261844	3	4	79	1	0	0	0	0	1	0	0	0	691	991	35	3	963	3	ANKS4B	16	21261844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79939	21261844	69092909	16095	26412											
OTOA	146183	broad.mit.edu	37	chr16	21721387	21721387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgggccaagagccaggTcatcatcttgtctgccaaat	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21721387T>C	ENST00000286149.4	+	12	1326	c.1325T>C	c.(1324-1326)gTc>gCc	p.V442A	OTOA_ENST00000388958.3_Missense_Mutation_p.V428A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A			Q7RTW8	OTOAN_HUMAN	otoancorin	442					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGAGCCAGGTCATCATCTTG	0.512																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1282-1284)gTc>gCc		otoancorin							69	58	62					16																	21721387		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21721387T>C	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1325T>C	16.37:g.21721387T>C	ENSP00000286149:p.Val442Ala					OTOA_ENST00000388956.4_Missense_Mutation_p.V349A|OTOA_ENST00000286149.4_Missense_Mutation_p.V442A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A	p.V428A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1284	+			442					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1283T>C		.	.	.	.	.	.	.	.	.	.	T	9.963	1.223292	0.22457	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.21	1.68	0.24146	.	0.662679	0.14853	N	0.294589	T	0.67571	0.2907	L	0.50333	1.59	0.24453	N	0.994475	B;B;B;B	0.13594	0.008;0.008;0.002;0.008	B;B;B;B	0.15052	0.012;0.012;0.003;0.012	T	0.50890	-0.8774	10	0.19147	T	0.46	-2.4377	8.0775	0.30724	0.0:0.2387:0.0:0.7613	.	442;349;104;428	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	428;442;349;104	ENSP00000373610:V428A;ENSP00000286149:V442A;ENSP00000373608:V349A;ENSP00000373609:V104A	ENSP00000286149:V442A	V	+	2	0	OTOA	21628888	0.203000	0.23435	0.684000	0.30055	0.998000	0.95712	0.413000	0.21148	0.004000	0.14682	0.523000	0.50628	GTC		0.512	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			6	152	0	0	0	1	0	6	152					C	21721387	T	C	21721387	3	2	79	1	0	0	0	0	1	0	0	0	11344	1667	58	4	1375	4	OTOA	16	21721387	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	459543	21721387	68633366	16096	26413											
OTOA	146183	broad.mit.edu	37	chr16	21739636	21739636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacttgccggcagccatcatCgacagggggatctcccccag	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000286149.4	+	19	2134	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	OTOA_ENST00000388958.3_Silent_p.I697I|OTOA_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388956.4_Silent_p.I618I			Q7RTW8	OTOAN_HUMAN	otoancorin	711					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGCCATCATCGACAGGGGGA	0.582																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(2089-2091)atC>atT		otoancorin							97	84	88					16																	21739636		2198	4300	6498	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21739636C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2133C>T	16.37:g.21739636C>T						OTOA_ENST00000388956.4_Silent_p.I618I|OTOA_ENST00000286149.4_Silent_p.I711I|OTOA_ENST00000388957.3_Silent_p.I373I	p.I697I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	19	2092	+			711					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.2091C>T																																																																																					0.582	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			32	468	0	0	0	1	0	32	468					T	21739636	C	T	21739636	2	4	79	1	0	0	0	0	0	0	0	1	11344	874	31	1		1	OTOA	16	21739636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18249	21739636	68615117	16097	26414											
VWA3A	146177	broad.mit.edu	37	chr16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaacaatttacaaagtgCctggcggtaggttatgggca	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	574	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1720-1722)gCc>gTc		von Willebrand factor A domain containing 3A							72	72	72					16																	22142594		1956	4143	6099	SO:0001583	missense	146177					extracellular region		g.chr16:22142594C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1721C>T	16.37:g.22142594C>T	ENSP00000374049:p.Ala574Val					VWA3A_ENST00000389397.4_5'UTR	p.A574V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	18	1817	+			574			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1721C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323604	0.81580	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09073	3.02	5.17	5.17	0.71159	.	0.068546	0.64402	D	0.000017	T	0.28234	0.0697	M	0.73319	2.225	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.66084	0.941;0.785	T	0.01121	-1.1445	10	0.87932	D	0	.	17.295	0.87168	0.0:1.0:0.0:0.0	.	574;198	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	574;197	ENSP00000374049:A574V	ENSP00000299840:A197V	A	+	2	0	VWA3A	22050095	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.885000	0.63142	2.415000	0.81967	0.558000	0.71614	GCC		0.498	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			33	123	0	0	0	1	0	33	123					T	22142594	C	T	22142594	3	4	79	1	0	0	0	0	1	0	0	0	17294	739	26	2	1791	2	VWA3A	16	22142594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	402958	22142594	68212159	16098	26415											
VWA3A	146177	broad.mit.edu	37	chr16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcccttccttccagagCggcggttgagttcctgagaa	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389398.5	+	31	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(589-591)gCg>gTg		von Willebrand factor A domain containing 3A																																				SO:0001583	missense	146177					extracellular region		g.chr16:22163834C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3284C>T	16.37:g.22163834C>T	ENSP00000374049:p.Ala1095Val					VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1095V	p.A197V			A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	32	3452	+			1095					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.590C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783587	0.31593	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.10192	2.9;2.9	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04137	0.0115	N	0.10733	0.035	0.09310	N	1	B;B	0.33379	0.209;0.41	B;B	0.22601	0.031;0.04	T	0.32508	-0.9904	10	0.18276	T	0.48	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	V	1095;197;718	ENSP00000374049:A1095V;ENSP00000374048:A197V	ENSP00000299840:A718V	A	+	2	0	VWA3A	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG		0.587	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			23	104	0	0	0	1	0	23	104					T	22163834	C	T	22163834	3	4	79	1	0	0	0	0	1	0	0	0	17294	768	27	1	3406	1	VWA3A	16	22163834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21240	22163834	68190919	16099	26416											
EEF2K	29904	broad.mit.edu	37	chr16	22268113	22268113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgagctgaaggacagaccGggcaagcccctcttccacct	10	15	1	2	rs112106407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22268113G>A	ENST00000263026.5	+	7	1137	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	221	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACAGACCGGGCAAGCCCC	0.597																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(661-663)ccG>ccA		eukaryotic elongation factor-2 kinase							128	90	103					16																	22268113		2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268113G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.663G>A	16.37:g.22268113G>A							p.P221P	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	7	1137	+			221			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.663G>A	CCDS10604.1																																																																																				0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		7	246	0	0	0	1	0	7	246					A	22268113	G	A	22268113	2	1	79	1	0	0	0	0	0	0	0	1	4946	1103	39	1		1	EEF2K	16	22268113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104279	22268113	68086640	16100	26417											
POLR3E	55718	broad.mit.edu	37	chr16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccccaactattgccGcagcaaaggggagcagattg	11	12	0	2	rs145630346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	71					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18459	0.0		0.002	False		,,,				2504	0.0					ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(211-213)cGc>cAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							130	104	112					16																	22320292		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320292G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.212G>A	16.37:g.22320292G>A	ENSP00000299853:p.Arg71His					POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H	p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	5	379	+			71					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.212G>A	CCDS10605.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.615409	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.61387	1.9	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.977;0.868;0.95;0.971	D;P;B;P;B	0.71656	0.974;0.64;0.271;0.64;0.378	T	0.68880	-0.5292	10	0.87932	D	0	-18.8766	18.5571	0.91089	0.0:0.0:1.0:0.0	.	35;71;71;71;71	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	H	71;71;35	ENSP00000299853:R71H;ENSP00000352140:R71H;ENSP00000399254:R35H	ENSP00000299853:R71H	R	+	2	0	POLR3E	22227793	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.381000	0.97205	2.684000	0.91462	0.555000	0.69702	CGC		0.617	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		82	360	0	0	0	1	0	82	360					A	22320292	G	A	22320292	3	1	79	1	0	0	0	0	1	0	0	0	12274	1087	38	1	226	1	POLR3E	16	22320292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52179	22320292	68034461	16101	26418											
POLR3E	55718	broad.mit.edu	37	chr16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcagctgcggcccaGcttctcctacctggataagg	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	138					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(412-414)aGc>aAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							50	51	51					16																	22324989		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22324989G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.413G>A	16.37:g.22324989G>A	ENSP00000299853:p.Ser138Asn					POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N	p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	7	580	+			138					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.413G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337964	0.81911	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B;B	0.28400	0.116;0.009;0.116;0.075;0.116;0.21	B;B;B;B;B;B	0.35278	0.199;0.036;0.129;0.05;0.129;0.125	T	0.58730	-0.7585	10	0.87932	D	0	-18.61	18.0983	0.89498	0.0:0.0:1.0:0.0	.	82;102;138;138;138;138	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	138;138;102	ENSP00000299853:S138N;ENSP00000352140:S138N;ENSP00000399254:S102N	ENSP00000299853:S138N	S	+	2	0	POLR3E	22232490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.563000	0.86464	0.561000	0.74099	AGC		0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		68	265	0	0	0	1	0	68	265					A	22324989	G	A	22324989	3	1	79	1	0	0	0	0	1	0	0	0	12274	971	34	2	435	2	POLR3E	16	22324989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4697	22324989	68029764	16102	26419											
POLR3E	55718	broad.mit.edu	37	chr16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgctgatgccacccaGccaggaggaggagaagtgag	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	253					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(757-759)aGc>aTc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							98	97	97					16																	22328345		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22328345G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.758G>T	16.37:g.22328345G>T	ENSP00000299853:p.Ser253Ile					POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I	p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	11	925	+			253					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.758G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017760	0.35606	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46063	0.88;0.88;0.88	5.22	2.89	0.33648	.	0.259797	0.45126	D	0.000383	T	0.26268	0.0641	N	0.11427	0.14	0.34833	D	0.739931	B;B;B;B;B;B	0.33883	0.43;0.43;0.229;0.191;0.143;0.376	B;B;B;B;B;B	0.37833	0.259;0.122;0.243;0.109;0.175;0.168	T	0.44726	-0.9309	10	0.87932	D	0	-11.3541	10.3174	0.43745	0.2381:0.0:0.7619:0.0	.	197;217;253;253;253;253	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	I	253;253;217	ENSP00000299853:S253I;ENSP00000352140:S253I;ENSP00000399254:S217I	ENSP00000299853:S253I	S	+	2	0	POLR3E	22235846	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.155000	0.42301	1.186000	0.42985	0.561000	0.74099	AGC		0.622	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		129	498	1	0	2.62243e-83	1	3.35764e-83	129	498					T	22328345	G	T	22328345	3	4	79	1	0	0	0	0	1	0	0	0	12274	971	34	3	796	3	POLR3E	16	22328345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3356	22328345	68026408	16103	26420											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545850	22545850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataatctcaagacaccttccGagcgtcagctcactgccctt	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22545850G>A	ENST00000517539.1	+	8	1621	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	NPIPB5_ENST00000424340.1_Missense_Mutation_p.E516K|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	516	Pro-rich.					integral component of membrane (GO:0016021)											GACACCTTCCGAGCGTCAGCT	0.577																																						ENST00000424340.1																			0											c.(1546-1548)Gag>Aag		nuclear pore complex interacting protein family, member B5							8	6	7					16																	22545850		679	1564	2243	SO:0001583	missense	100132247							g.chr16:22545850G>A		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1546G>A	16.37:g.22545850G>A	ENSP00000430633:p.Glu516Lys					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.E516K	p.E516K	NM_001135865.1	NP_001129337.1					7	1825	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1546G>A	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665743	0.29604	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18810	2.19;2.24;2.24;2.19	.	.	.	.	.	.	.	.	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	P;P	0.48503	0.891;0.911	P;P	0.62184	0.837;0.899	T	0.16394	-1.0404	7	0.49607	T	0.09	.	.	.	.	.	516;516	F5GWX0;A8MRT5	.;K220L_HUMAN	K	516;516;516;394;516;516;497	ENSP00000445388:E516K;ENSP00000440703:E516K;ENSP00000430633:E516K;ENSP00000431553:E516K	ENSP00000441680:E516K	E	+	1	0	RP11-368J21.2	22453351	.	.	0.003000	0.11579	0.003000	0.03518	.	.	0.073000	0.16731	0.074000	0.15403	GAG		0.577	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		132	2057	0	0	0	1	0	132	2057					A	22545850	G	A	22545850	3	1	79	1	0	0	0	0	1	0	0	0	8903	1059	37	1	1572	1	LOC100132247	16	22545850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217505	22545850	67808903	16104	26421											
HS3ST2	9956	broad.mit.edu	37	chr16	22826268	22826268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaagctgggtaccaagCggttgccccaagccctcatt	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	ENST00000261374.3	+	1	771	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	113					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGTACCAAGCGGTTGCCCCA	0.716																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(337-339)Cgg>Tgg		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							10	12	11					16																	22826268		2184	4293	6477	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826268C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.337C>T	16.37:g.22826268C>T	ENSP00000261374:p.Arg113Trp						p.R113W	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	771	+			113					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.337C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994931	0.74703	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.51574	0.7	5.12	3.01	0.34805	.	0.053328	0.64402	D	0.000001	T	0.51210	0.1661	L	0.36672	1.1	0.53688	D	0.999977	D	0.71674	0.998	D	0.63793	0.918	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.645	0.28315	0.2493:0.6578:0.0:0.0929	.	113	Q9Y278	HS3S2_HUMAN	W	113;121	ENSP00000261374:R113W	ENSP00000261374:R113W	R	+	1	2	HS3ST2	22733769	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.513000	0.22770	1.137000	0.42214	0.655000	0.94253	CGG		0.716	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		13	87	0	0	0	1	0	13	87					T	22826268	C	T	22826268	3	4	79	1	0	0	0	0	1	0	0	0	7394	759	27	1	339	1	HS3ST2	16	22826268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280418	22826268	67528485	16105	26422											
HS3ST2	9956	broad.mit.edu	37	chr16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactttgtcactcaagagGctcctcgacgcatcttcaac	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	187					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(559-561)Gct>Act		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							103	96	98					16																	22926338		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926338G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.559G>A	16.37:g.22926338G>A	ENSP00000261374:p.Ala187Thr						p.A187T	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	993	+			187					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.559G>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655980	0.47467	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.051785	0.85682	D	0.000000	T	0.45155	0.1328	L	0.43646	1.37	0.80722	D	1	P	0.42649	0.786	B	0.44044	0.439	T	0.42361	-0.9456	10	0.49607	T	0.09	.	13.1286	0.59369	0.0769:0.0:0.9231:0.0	.	187	Q9Y278	HS3S2_HUMAN	T	187;195	ENSP00000261374:A187T	ENSP00000261374:A187T	A	+	1	0	HS3ST2	22833839	1.000000	0.71417	0.999000	0.59377	0.153000	0.21895	5.575000	0.67430	1.225000	0.43566	0.561000	0.74099	GCT		0.562	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		147	507	0	0	0	1	0	147	507					A	22926338	G	A	22926338	3	1	79	1	0	0	0	0	1	0	0	0	7394	1203	42	2	565	2	HS3ST2	16	22926338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100070	22926338	67428415	16106	26423											
HS3ST2	9956	broad.mit.edu	37	chr16	22926574	22926574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgcagtacttcccGctagctcagattcacttcgt	9	13	2	1	rs373421243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0					ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(793-795)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							108	99	102					16																	22926574		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926574G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.795G>A	16.37:g.22926574G>A							p.P265P	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1229	+			265					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.795G>A	CCDS10606.1																																																																																				0.607	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		187	680	0	0	0	1	0	187	680					A	22926574	G	A	22926574	2	1	79	1	0	0	0	0	0	0	0	1	7394	1074	38	1		1	HS3ST2	16	22926574	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236	22926574	67428179	16107	26424											
HS3ST2	9956	broad.mit.edu	37	chr16	22926592	22926592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctagctcagattcacttCgtcagtggcgagcgactcat	10	13	4	1	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	271					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(811-813)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 2		C		0,4394		0,0,2197	105	99	101		813	1.7	1	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		271/368	22926592	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926592C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.813C>T	16.37:g.22926592C>T							p.F271F	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1247	+			271					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.813C>T	CCDS10606.1																																																																																				0.582	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		208	730	0	0	0	1	0	208	730					T	22926592	C	T	22926592	2	4	79	1	0	0	0	0	0	0	0	1	7394	883	31	1		1	HS3ST2	16	22926592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	22926592	67428161	16108	26425											
USP31	57478	broad.mit.edu	37	chr16	23080093	23080093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacttctgcttctgtggCgaaggagatgacacggagtc	14	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTCTGTGGCGAAGGAGATG	0.587																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3331-3333)tcG>tcA		ubiquitin specific peptidase 31							99	106	103					16																	23080093		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080093C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3333G>A	16.37:g.23080093C>T						USP31_ENST00000567975.1_Silent_p.S404S	p.S1111S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3332	-			1111			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.3333G>A	CCDS10607.1																																																																																				0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		126	613	0	0	0	1	0	126	613					T	23080093	C	T	23080093	2	4	79	1	0	0	0	0	0	0	0	1	17116	755	27	1		1	USP31	16	23080093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153501	23080093	67274660	16109	26426											
USP31	57478	broad.mit.edu	37	chr16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaaatctctttagatgTataataagcacatcaggcag	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	294	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTAGATGTATAATAAGCA	0.498																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(1927-1929)atA>atG		ubiquitin specific peptidase 31							94	86	89					16																	23093780		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23093780T>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1929A>G	16.37:g.23093780T>C	ENSP00000219689:p.Ile643Met						p.I643M	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	12	1928	-			643					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1929A>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751067	0.69533	.	.	ENSG00000103404	ENST00000219689	T	0.04083	3.71	4.75	-7.99	0.01131	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.155815	0.43110	D	0.000605	T	0.04182	0.0116	L	0.38175	1.15	0.80722	D	1	D	0.55800	0.973	P	0.49226	0.603	T	0.32508	-0.9904	10	0.72032	D	0.01	-2.6077	5.5788	0.17238	0.1062:0.1315:0.5449:0.2175	.	643	Q70CQ4	UBP31_HUMAN	M	643	ENSP00000219689:I643M	ENSP00000219689:I643M	I	-	3	3	USP31	23001281	0.017000	0.18338	0.011000	0.14972	0.999000	0.98932	-1.059000	0.03479	-1.905000	0.01090	0.528000	0.53228	ATA		0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		83	323	0	0	0	1	0	83	323					C	23093780	T	C	23093780	3	2	79	1	0	0	0	0	1	0	0	0	17116	1628	57	4	2149	4	USP31	16	23093780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13687	23093780	67260973	16110	26427											
SCNN1G	6340	broad.mit.edu	37	chr16	23226069	23226069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgatattctacaaagaCctgaaccagagatccatcat	5	11	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	510					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)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1528-1530)gaC>gaT		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						87	83	84					16																	23226069		2197	4300	6497	SO:0001819	synonymous_variant	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226069C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1530C>T	16.37:g.23226069C>T							p.D510D	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1673	+			510					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	37	c.1530C>T	CCDS10608.1																																																																																				0.493	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		52	209	0	0	0	1	0	52	209					T	23226069	C	T	23226069	2	4	79	1	0	0	0	0	0	0	0	1	13980	506	18	2		2	SCNN1G	16	23226069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132289	23226069	67128684	16111	26428											
SCNN1B	6338	broad.mit.edu	37	chr16	23364329	23364329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggagacaaccacaatggCttaacaagcagctcagcatc	8	11	1	1	rs201804824		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000343070.2	+	3	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568923.1_Silent_p.G173G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	173					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)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32	GRCh37	CI994507	SCNN1B	I		c.(517-519)ggC>ggA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						152	132	138					16																	23364329		2197	4300	6497	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364329C>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.519C>A	16.37:g.23364329C>A						SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G	p.G173G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	695	+			173					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.519C>A	CCDS10609.1																																																																																				0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			112	509	1	0	8.74965e-44	1	1.06917e-43	112	509					A	23364329	C	A	23364329	2	1	79	1	0	0	0	0	0	0	0	1	13978	784	28	3		3	SCNN1B	16	23364329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138260	23364329	66990424	16112	26429											
SCNN1B	6338	broad.mit.edu	37	chr16	23382619	23382619	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaccctccccacaGgcctgaagttgatcctggac	7	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						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)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e6-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						69	49	56					16																	23382619		2197	4300	6497	SO:0001630	splice_region_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23382619G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.881-1G>A	16.37:g.23382619G>A						SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site		NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	6	1056	+								C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37		CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796929	0.70567	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23290120	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.235000	0.78143	2.327000	0.79052	0.655000	0.94253	.		0.622	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Intron	34	134	0	0	0	1	0	34	134					A	23382619	G	A	23382619	5	1	79	1	0	0	0	0	0	0	1	0	13978	1014	35	2	898	2	SCNN1B	16	23382619	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18290	23382619	66972134	16113	26430											
COG7	91949	broad.mit.edu	37	chr16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatcgcatcacagtagGtctgcattgtggctctggcg	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	692					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCACAGTAGGTCTGCATTGT	0.577																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2074-2076)aCc>aTc		component of oligomeric golgi complex 7							129	111	117					16																	23403772		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23403772G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2075C>T	16.37:g.23403772G>A	ENSP00000305442:p.Thr692Ile					COG7_ENST00000569635.1_Intron	p.T692I	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	16	2260	-			692					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2075C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662772	0.67700	.	.	ENSG00000168434	ENST00000307149	T	0.42900	0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.16420	T	0.52	-37.0723	18.2016	0.89840	0.0:0.0:1.0:0.0	.	692	P83436	COG7_HUMAN	I	692	ENSP00000305442:T692I	ENSP00000305442:T692I	T	-	2	0	COG7	23311273	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.013000	0.88655	2.534000	0.85438	0.484000	0.47621	ACC		0.577	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			68	252	0	0	0	1	0	68	252					A	23403772	G	A	23403772	3	1	79	1	0	0	0	0	1	0	0	0	3672	1261	44	2	245	2	COG7	16	23403772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21153	23403772	66950981	16114	26431											
COG7	91949	broad.mit.edu	37	chr16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcgactttaccagaggcAcagcactcatctggatgagg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	377					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TACCAGAGGCACAGCACTCAT	0.572																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1129-1131)gTg>gCg		component of oligomeric golgi complex 7							113	86	95					16																	23430028		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23430028A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1130T>C	16.37:g.23430028A>G	ENSP00000305442:p.Val377Ala						p.V377A	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	8	1315	-			377					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1130T>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826711	0.50739	.	.	ENSG00000168434	ENST00000307149	T	0.52295	0.67	5.73	5.73	0.89815	.	0.165224	0.53938	D	0.000059	T	0.43500	0.1250	L	0.46157	1.445	0.49798	D	0.99982	B	0.29671	0.254	B	0.32342	0.144	T	0.28106	-1.0054	10	0.22706	T	0.39	-14.745	15.1912	0.73047	1.0:0.0:0.0:0.0	.	377	P83436	COG7_HUMAN	A	377	ENSP00000305442:V377A	ENSP00000305442:V377A	V	-	2	0	COG7	23337529	1.000000	0.71417	0.946000	0.38457	0.299000	0.27559	9.290000	0.96065	2.185000	0.69588	0.533000	0.62120	GTG		0.572	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			39	152	0	0	0	1	0	39	152					G	23430028	A	G	23430028	3	3	79	1	0	0	0	0	1	0	0	0	3672	159	6	4	1222	4	COG7	16	23430028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26256	23430028	66924725	16115	26432											
EARS2	124454	broad.mit.edu	37	chr16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttctgtggcctggGcatacagctccaaccgctga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000563459.1	-	3	380	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000449606.1_Missense_Mutation_p.A125V|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	125					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGTGGCCTGGGCATACAGCTC	0.632																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(373-375)gCc>gTc		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						24	28	27					16																	23555946		1967	4150	6117	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23555946G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.374C>T	16.37:g.23555946G>A	ENSP00000456467:p.Ala125Val					EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000563459.1_Missense_Mutation_p.A125V|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron	p.A125V	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	405	-			125					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.374C>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522232	0.27211	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.22539	1.95	5.66	5.66	0.87406	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.684095	0.15332	N	0.267955	T	0.17492	0.0420	L	0.31526	0.94	0.29233	N	0.873174	P;B	0.45827	0.867;0.04	B;B	0.41860	0.368;0.166	T	0.07328	-1.0778	10	0.56958	D	0.05	-0.6922	9.9702	0.41749	0.0:0.1579:0.6978:0.1443	.	125;125	Q86YH3;Q5JPH6	.;SYEM_HUMAN	V	125	ENSP00000395196:A125V	ENSP00000343488:A125V	A	-	2	0	EARS2	23463447	0.000000	0.05858	0.991000	0.47740	0.096000	0.18686	0.438000	0.21559	2.673000	0.90976	0.561000	0.74099	GCC		0.632	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		9	107	0	0	0	1	0	9	107					A	23555946	G	A	23555946	3	1	79	1	0	0	0	0	1	0	0	0	4894	1203	42	2	1225	2	EARS2	16	23555946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125918	23555946	66798807	16116	26433											
PALB2	79728	broad.mit.edu	37	chr16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttaaactcagcattccaTccctatgaaatggagccgtg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	595					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCATTCCATCCCTATGAAA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1783-1785)gAt>gCt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							66	58	61					16																	23641691		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641691T>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1784A>C	16.37:g.23641691T>G	ENSP00000261584:p.Asp595Ala						p.D595A	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	1936	-			595					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1784A>C	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024334	0.19433	.	.	ENSG00000083093	ENST00000261584	T	0.15139	2.45	5.89	3.65	0.41850	.	1.087770	0.06976	N	0.818945	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.28011	0.085	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.2254	7.4692	0.27338	0.0:0.2393:0.0:0.7607	.	595	Q86YC2	PALB2_HUMAN	A	595	ENSP00000261584:D595A	ENSP00000261584:D595A	D	-	2	0	PALB2	23549192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.219000	0.32479	0.475000	0.27415	-0.250000	0.11733	GAT		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		21	263	0	0	0	1	0	21	263					G	23641691	T	G	23641691	3	3	79	1	0	0	0	0	1	0	0	0	11448	1435	50	4	1812	4	PALB2	16	23641691	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85745	23641691	66713062	16117	26434											
PALB2	79728	broad.mit.edu	37	chr16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacttttacttatagCtttatttacaaggaggttat	7	6	0	0	rs202151522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	308	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTACTTATAGCTTTATTTACA	0.353			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(922-924)Gct>Act	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							80	81	81					16																	23646945		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646945C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.922G>A	16.37:g.23646945C>T	ENSP00000261584:p.Ala308Thr						p.A308T	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1074	-			308			Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.922G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202066	0.22121	.	.	ENSG00000083093	ENST00000261584	T	0.16457	2.34	6.07	-5.77	0.02369	.	1.442380	0.03986	N	0.294067	T	0.17916	0.0430	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.39292	-0.9621	10	0.48119	T	0.1	0.8454	8.884	0.35392	0.0:0.3679:0.1007:0.5314	.	308	Q86YC2	PALB2_HUMAN	T	308	ENSP00000261584:A308T	ENSP00000261584:A308T	A	-	1	0	PALB2	23554446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-1.030000	0.03312	-0.136000	0.14681	GCT		0.353	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		106	496	0	0	0	1	0	106	496					T	23646945	C	T	23646945	3	4	79	1	0	0	0	0	1	0	0	0	11448	797	28	2	2678	2	PALB2	16	23646945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	23646945	66707808	16118	26435											
PALB2	79728	broad.mit.edu	37	chr16	23649187	23649187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgagtgttttagctgCggtgagagatcctgctgaga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	65	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTAGCTGCGGTGAGAGAT	0.388			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(193-195)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							174	164	168					16																	23649187		2197	4300	6497	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23649187C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.195G>A	16.37:g.23649187C>T							p.P65P	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	3	347	-			65			Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.195G>A	CCDS32406.1																																																																																				0.388	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		84	313	0	0	0	1	0	84	313					T	23649187	C	T	23649187	2	4	79	1	0	0	0	0	0	0	0	1	11448	755	27	1		1	PALB2	16	23649187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	23649187	66705566	16119	26436											
PLK1	5347	broad.mit.edu	37	chr16	23693421	23693421	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaccaccttttgagacTtcttgcctaaaagagaccta	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTTTTGAGACTTCTTGCCTAA	0.423																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(757-759)acT>acG		polo-like kinase 1							147	136	140					16																	23693421		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23693421T>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.759T>G	16.37:g.23693421T>G							p.T253T	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	870	+			253			Protein kinase.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.759T>G	CCDS10616.1																																																																																				0.423	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		22	421	0	0	0	1	0	22	421					G	23693421	T	G	23693421	2	3	79	1	0	0	0	0	0	0	0	1	12136	1596	56	4		4	PLK1	16	23693421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44234	23693421	66661332	16120	26437											
ERN2	5347	broad.mit.edu	37	chr16	23702279	23702279	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcagccgtgggaagCggtttgtgaagtactggacg	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23702279C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R833H|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.R933H	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGGGAAGCGGTTTGTGAA	0.617																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2797-2799)cGc>cAc		endoplasmic reticulum to nucleus signaling 2							77	74	75					16																	23702279		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702279C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702279C>T						ERN2_ENST00000457008.2_Missense_Mutation_p.R833H	p.R933H	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	2966	-			885					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2798G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165707	0.78339	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.37752	1.18;1.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.82059	-0.0645	10	0.87932	D	0	.	16.6239	0.84937	0.0:1.0:0.0:0.0	.	833;885	E7ETG2;A5YM65	.;.	H	933;833	ENSP00000256797:R933H;ENSP00000413812:R833H	ENSP00000256797:R933H	R	-	2	0	ERN2	23609780	1.000000	0.71417	0.991000	0.47740	0.200000	0.23975	5.911000	0.69939	2.594000	0.87642	0.561000	0.74099	CGC		0.617	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		29	285	0	0	0	1	0	29	285					T	23702279	C	T	23702279	1	4	79	0	1	0	0	0	0	0	0	0	5256	768	27	1		1	ERN2	16	23702279	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8858	23702279	66652474	16121	26438											
ERN2	10595	broad.mit.edu	37	chr16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccactctgcccaggcCctggctgtcaggcccggtga	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000457008.2	-	16	1836	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	ERN2_ENST00000256797.4_Missense_Mutation_p.G700C					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2098-2100)Ggc>Tgc		endoplasmic reticulum to nucleus signaling 2							39	39	39					16																	23706195		2196	4300	6496	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706195C>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1798G>T	16.37:g.23706195C>A	ENSP00000413812:p.Gly600Cys					ERN2_ENST00000457008.2_Missense_Mutation_p.G600C	p.G700C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	17	2266	-			652			Protein kinase.			Missense_Mutation	SNP	ENST00000457008.2	37	c.2098G>T		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388176	0.61956	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.56941	0.43;0.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	600;652	E7ETG2;A5YM65	.;.	C	700;600	ENSP00000256797:G700C;ENSP00000413812:G600C	ENSP00000256797:G700C	G	-	1	0	ERN2	23613696	1.000000	0.71417	0.976000	0.42696	0.054000	0.15201	5.689000	0.68234	2.676000	0.91093	0.655000	0.94253	GGC		0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			36	170	1	0	5.71845e-15	1	6.23116e-15	36	170					A	23706195	C	A	23706195	3	1	79	1	0	0	0	0	1	0	0	0	5256	623	22	3	850	3	ERN2	16	23706195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3916	23706195	66648558	16122	26439											
ERN2	10595	broad.mit.edu	37	chr16	23713497	23713497	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaaggctggggcctgGgtattctctggaggtcttgt	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000457008.2	-	11	1217	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	ERN2_ENST00000256797.4_Silent_p.T441T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1321-1323)acC>acA		endoplasmic reticulum to nucleus signaling 2							67	72	71					16																	23713497		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713497G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1179C>A	16.37:g.23713497G>T						ERN2_ENST00000457008.2_Silent_p.T393T	p.T441T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1491	-			393						Silent	SNP	ENST00000457008.2	37	c.1323C>A																																																																																					0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			95	453	1	0	1.63549e-45	1	2.00598e-45	95	453					T	23713497	G	T	23713497	2	4	79	1	0	0	0	0	0	0	0	1	5256	1219	43	3		3	ERN2	16	23713497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7302	23713497	66641256	16123	26440											
CHP2	63928	broad.mit.edu	37	chr16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttggctcattttcGccctgtagaagatgaggaca	12	9	2	3	rs190915905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527													G|||	8	0.00159744	0.0	0.0	5008	,	,		18726	0.0079		0.0	False		,,,				2504	0.0					ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(271-273)cGc>cAc		calcineurin-like EF-hand protein 2							85	82	83					16																	23767434		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767434G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.272G>A	16.37:g.23767434G>A	ENSP00000300113:p.Arg91His						p.R91H	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	4	695	+			91			EF-hand 2.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.272G>A	CCDS10617.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.47	3.133391	0.56828	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.48	3.51	0.40186	EF-hand-like domain (1);	0.081158	0.48767	D	0.000165	T	0.40595	0.1123	M	0.77103	2.36	0.50171	D	0.999855	D	0.76494	0.999	P	0.57425	0.82	T	0.49293	-0.8955	10	0.48119	T	0.1	-4.8275	12.4389	0.55614	0.0:0.1709:0.8291:0.0	.	91	O43745	CHP2_HUMAN	H	91	ENSP00000300113:R91H	ENSP00000300113:R91H	R	+	2	0	AC130454.2	23674935	1.000000	0.71417	0.727000	0.30756	0.196000	0.23810	8.491000	0.90468	1.223000	0.43536	0.591000	0.81541	CGC		0.527	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		57	236	0	0	0	1	0	57	236					A	23767434	G	A	23767434	3	1	79	1	0	0	0	0	1	0	0	0	3376	1087	38	1	286	1	CHP2	16	23767434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53937	23767434	66587319	16124	26441											
PRKCB	5579	broad.mit.edu	37	chr16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgaggagagcaccgtgCgcttcgcccgcaaaggcgcc	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000321728.7	+	1	230	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000303531.7_Missense_Mutation_p.R19C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	19					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(55-57)Cgc>Tgc		protein kinase C, beta	Vitamin E(DB00163)						53	46	48					16																	23847551		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847551C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.55C>T	16.37:g.23847551C>T	ENSP00000318315:p.Arg19Cys					PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000321728.7_Missense_Mutation_p.R19C	p.R19C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	207	+			19					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.55C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811300	0.50527	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.92851	0.7726	M	0.66939	2.045	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.79784	0.966;0.993	D	0.93132	0.6534	10	0.56958	D	0.05	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	C	19	ENSP00000318315:R19C;ENSP00000305355:R19C	ENSP00000305355:R19C	R	+	1	0	PRKCB	23755052	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	4.341000	0.59335	1.768000	0.52137	0.558000	0.71614	CGC		0.706	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		86	231	0	0	0	1	0	86	231					T	23847551	C	T	23847551	3	4	79	1	0	0	0	0	1	0	0	0	12555	768	27	1	57	1	PRKCB	16	23847551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80117	23847551	66507202	16125	26442											
PRKCB	5579	broad.mit.edu	37	chr16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gattctgagggacacatcaaGattgccgattttggcatgtg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000321728.7	+	13	1618	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000303531.7_Missense_Mutation_p.K481N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1441-1443)aaG>aaT		protein kinase C, beta	Vitamin E(DB00163)						205	178	187					16																	24192159		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24192159G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1443G>T	16.37:g.24192159G>T	ENSP00000318315:p.Lys481Asn					PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			13	1595	+			481			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1443G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489032	0.84962	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.38887	1.11;1.11	5.9	3.93	0.45458	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	0.70254	0.3203	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76987	-0.2755	10	0.87932	D	0	.	10.5616	0.45148	0.1552:0.0:0.8448:0.0	.	481;481	P05771-2;P05771	.;KPCB_HUMAN	N	481	ENSP00000318315:K481N;ENSP00000305355:K481N	ENSP00000305355:K481N	K	+	3	2	PRKCB	24099660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	1.467000	0.48044	0.650000	0.86243	AAG		0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		118	510	1	0	5.53734e-46	1	6.79704e-46	118	510					T	24192159	G	T	24192159	3	4	79	1	0	0	0	0	1	0	0	0	12555	933	33	3	1493	3	PRKCB	16	24192159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344608	24192159	66162594	16126	26443											
PRKCB	5579	broad.mit.edu	37	chr16	24226007	24226007	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatgctgaaaacttcgaccGatttttcacccgccatccac	5	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24226007G>A	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Missense_Mutation_p.R631Q	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACTTCGACCGATTTTTCACC	0.423																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1891-1893)cGa>cAa		protein kinase C, beta	Vitamin E(DB00163)						78	73	75					16																	24226007		2197	4300	6497	SO:0001627	intron_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24226007G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5275G>A	16.37:g.24226007G>A						PRKCB_ENST00000321728.7_Intron	p.R631Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			17	2044	+			632			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1892G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374108	0.42105	.	.	ENSG00000166501	ENST00000303531	T	0.57107	0.42	5.96	5.01	0.66863	.	0.427505	0.21230	N	0.077981	T	0.34890	0.0913	.	.	.	0.47308	D	0.999382	B	0.22746	0.074	B	0.16722	0.016	T	0.12604	-1.0541	9	0.13853	T	0.58	.	10.1985	0.43069	0.1518:0.0:0.8482:0.0	.	631	P05771-2	.	Q	631	ENSP00000305355:R631Q	ENSP00000305355:R631Q	R	+	2	0	PRKCB	24133508	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.521000	0.67086	1.536000	0.49237	0.655000	0.94253	CGA		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		12	327	0	0	0	1	0	12	327					A	24226007	G	A	24226007	1	1	79	0	1	0	0	0	0	0	0	0	12555	1058	37	1		1	PRKCB	16	24226007	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33848	24226007	66128746	16127	26444											
RBBP6	5930	broad.mit.edu	37	chr16	24560342	24560342	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacactttttctacacattgCttttacctttataatgtagc	3	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24560342C>A	ENST00000319715.4	+	3	735				RBBP6_ENST00000452655.2_Missense_Mutation_p.L115I|RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6						embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTACACATTGCTTTTACCTTT	0.294																																						ENST00000452655.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(343-345)Ctt>Att		retinoblastoma binding protein 6							88	78	81					16																	24560342		2196	4298	6494	SO:0001627	intron_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24560342C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.303+40C>A	16.37:g.24560342C>A						RBBP6_ENST00000348022.2_Intron|RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000319715.4_Intron	p.L115I	NM_032626.5	NP_116015.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	3	474	+			0					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.343C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358671	0.24598	.	.	ENSG00000122257	ENST00000452655	T	0.48522	0.81	5.25	3.29	0.37713	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.05818	-1.0862	7	.	.	.	.	5.6324	0.17518	0.0:0.5754:0.1338:0.2908	.	115	Q7Z6E9-3	.	I	115	ENSP00000390537:L115I	.	L	+	1	0	RBBP6	24467843	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	0.052000	0.14163	0.714000	0.32081	0.585000	0.79938	CTT		0.294	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		18	48	1	0	5.03518e-11	1	5.3609e-11	18	48					A	24560342	C	A	24560342	1	1	79	0	1	0	0	0	0	0	0	0	13153	797	28	3		3	RBBP6	16	24560342	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334335	24560342	65794411	16128	26445											
RBBP6	5930	broad.mit.edu	37	chr16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctcttgcatcagaGcactcaaagggaacctcctc	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	445					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGCATCAGAGCACTCAAAGG	0.328																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1333-1335)gaG>gaT		retinoblastoma binding protein 6							78	87	84					16																	24574565		2184	4290	6474	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24574565G>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1335G>T	16.37:g.24574565G>T	ENSP00000317872:p.Glu445Asp					RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D|RBBP6_ENST00000381039.3_Intron	p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	11	1767	+			445					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1335G>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357741	0.41801	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14391	2.51;2.52	5.75	-1.1	0.09872	.	0.219325	0.31113	N	0.008225	T	0.05777	0.0151	N	0.14661	0.345	0.31755	N	0.634154	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.32851	-0.9891	10	0.19147	T	0.46	-26.9606	6.0765	0.19919	0.3838:0.0:0.4308:0.1854	.	445;445	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	D	445	ENSP00000317872:E445D;ENSP00000316291:E445D	ENSP00000317872:E445D	E	+	3	2	RBBP6	24482066	0.003000	0.15002	0.996000	0.52242	0.971000	0.66376	-1.903000	0.01594	-0.076000	0.12775	-0.471000	0.05019	GAG		0.328	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		28	822	1	0	2.41591e-17	1	2.66597e-17	28	822					T	24574565	G	T	24574565	3	4	79	1	0	0	0	0	1	0	0	0	13153	962	34	3	1431	3	RBBP6	16	24574565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14223	24574565	65780188	16129	26446											
RBBP6	5930	broad.mit.edu	37	chr16	24581479	24581479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaagaaaaaggcgtAgataaagattttgagtcttc	9	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1156					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAAGGCGTAGATAAAGATT	0.338																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3466-3468)gtA>gtG		retinoblastoma binding protein 6							52	59	57					16																	24581479		2197	4296	6493	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581479A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3468A>G	16.37:g.24581479A>G						RBBP6_ENST00000348022.2_Silent_p.V1122V|RBBP6_ENST00000381039.3_Intron	p.V1156V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3900	+			1156					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.3468A>G	CCDS10621.1																																																																																				0.338	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		22	374	0	0	0	1	0	22	374					G	24581479	A	G	24581479	2	3	79	1	0	0	0	0	0	0	0	1	13153	407	15	4		4	RBBP6	16	24581479	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	24581479	65773274	16130	26447											
RBBP6	5930	broad.mit.edu	37	chr16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaatttctttaagtgCgccagccaaaaaaatcaaac	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1204V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368																																						ENST00000319715.4																			1	Substitution - Missense(1)	p.A1204V(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3610-3612)gCg>gTg		retinoblastoma binding protein 6							42	47	45					16																	24581622		2197	4298	6495	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581622C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3611C>T	16.37:g.24581622C>T	ENSP00000317872:p.Ala1204Val					RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V|RBBP6_ENST00000381039.3_Intron	p.A1204V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	4043	+			1204					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3611C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	RBBP6	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		82	362	0	0	0	1	0	82	362					T	24581622	C	T	24581622	3	4	79	1	0	0	0	0	1	0	0	0	13153	768	27	1	3731	1	RBBP6	16	24581622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143	24581622	65773131	16131	26448											
TNRC6A	27327	broad.mit.edu	37	chr16	24788479	24788479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagccacaggccttgcCtcggtatcctcgtgaagtac	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788479C>A	ENST00000395799.3	+	5	518	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	130	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagGCCTTGCCTCGGTATCCT	0.587																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(388-390)cCt>cAt		trinucleotide repeat containing 6A							57	67	64					16																	24788479		2182	4294	6476	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788479C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.389C>A	16.37:g.24788479C>A	ENSP00000379144:p.Pro130His					TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	518	+			130					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.389C>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698489	0.88830	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.71	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.30103	0.0754	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00118	-1.2033	10	0.42905	T	0.14	-3.9194	20.3495	0.98807	0.0:1.0:0.0:0.0	.	130	Q8NDV7	TNR6A_HUMAN	H	130	ENSP00000326900:P130H;ENSP00000379144:P130H	ENSP00000326900:P130H	P	+	2	0	TNRC6A	24695980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.043000	0.64208	2.814000	0.96858	0.591000	0.81541	CCT		0.587	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		12	620	1	0	2.27111e-07	1	2.35674e-07	12	620					A	24788479	C	A	24788479	3	1	79	1	0	0	0	0	1	0	0	0	16392	681	24	3	407	3	TNRC6A	16	24788479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206857	24788479	65566274	16132	26449											
TNRC6A	27327	broad.mit.edu	37	chr16	24831545	24831545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtggaaggtccctttGccacctaaaaacatcactgc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24831545G>A	ENST00000395799.3	+	22	5295	c.5166G>A	c.(5164-5166)ttG>ttA	p.L1722L	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1673L|TNRC6A_ENST00000432286.2_Silent_p.L200L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1722	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGTCCCTTTGCCACCTAAAA	0.517																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5164-5166)ttG>ttA		trinucleotide repeat containing 6A							141	131	134					16																	24831545		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24831545G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5166G>A	16.37:g.24831545G>A						TNRC6A_ENST00000432286.2_Silent_p.L200L|TNRC6A_ENST00000315183.7_Silent_p.L1673L	p.L1722L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	22	5295	+			1722			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.5166G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225771	0.22542	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.79	3.76	0.43208	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59402	-0.7461	4	.	.	.	-5.0009	12.1343	0.53961	0.1445:0.0:0.8555:0.0	.	.	.	.	T	613	.	.	A	+	1	0	TNRC6A	24739046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	0.720000	0.32209	0.655000	0.94253	GCC		0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		19	645	0	0	0	1	0	19	645					A	24831545	G	A	24831545	2	1	79	1	0	0	0	0	0	0	0	1	16392	1310	46	2		2	TNRC6A	16	24831545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43066	24831545	65523208	16133	26450											
SLC5A11	115584	broad.mit.edu	37	chr16	24922842	24922842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccatctttatctggggCtattttgcttagtgtggggt	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000424767.2_Silent_p.G637G	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTATCTGGGGCTATTTTGCTT	0.438																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(2014-2016)ggC>ggT		solute carrier family 5 (sodium/inositol cotransporter), member 11							122	123	123					16																	24922842		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24922842C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.2016C>T	16.37:g.24922842C>T						SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000449109.2_Silent_p.G516G	p.G672G	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	16	2638	+			672						Silent	SNP	ENST00000347898.3	37	c.2016C>T	CCDS10625.1																																																																																				0.438	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		118	542	0	0	0	1	0	118	542					T	24922842	C	T	24922842	2	4	79	1	0	0	0	0	0	0	0	1	14713	784	28	2		2	SLC5A11	16	24922842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91297	24922842	65431911	16134	26451											
ARHGAP17	55114	broad.mit.edu	37	chr16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcttcacagggcagtgctCtcggtatcattgtctatatc	8	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	877					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)			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)		GGGCAGTGCTCTCGGTATCAT	0.557																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2629-2631)gaG>gaT		Rho GTPase activating protein 17							211	202	205					16																	24931466		2197	4300	6497	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.chr16:24931466C>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.2631G>T	16.37:g.24931466C>A	ENSP00000289968:p.Glu877Asp					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	p.E877D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	20	2700	-			877					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2631G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295147	0.23564	.	.	ENSG00000140750	ENST00000289968;ENST00000303665	T;T	0.36520	1.49;1.25	6.08	-7.63	0.01290	.	0.000000	0.41396	D	0.000890	T	0.51160	0.1658	M	0.65975	2.015	0.33623	D	0.605049	D;D;D;D	0.76494	0.996;0.994;0.998;0.999	D;D;D;D	0.77557	0.987;0.97;0.99;0.987	T	0.66085	-0.6011	10	0.87932	D	0	.	17.2368	0.87001	0.0:0.6168:0.0:0.3832	.	799;877;410;710	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	877;799	ENSP00000289968:E877D;ENSP00000303130:E799D	ENSP00000289968:E877D	E	-	3	2	ARHGAP17	24838967	0.035000	0.19736	0.083000	0.20561	0.012000	0.07955	-1.553000	0.02174	-1.429000	0.01987	-1.631000	0.00782	GAG		0.557	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		140	586	1	0	1.50598e-64	1	1.90284e-64	140	586					A	24931466	C	A	24931466	3	1	79	1	0	0	0	0	1	0	0	0	867	912	32	3	18	3	ARHGAP17	16	24931466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8624	24931466	65423287	16135	26452											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942726	24942726	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgggttttttaacagCtgcacaaaaagagaaaaaac	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						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)			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)		TTTTTAACAGCTGCACAAaaa	0.537																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.e19-1		Rho GTPase activating protein 17							25	32	30					16																	24942726		2171	4282	6453	SO:0001630	splice_region_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942726C>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.1895-1G>T	16.37:g.24942726C>A						ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site		NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	1964	-								A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Splice_Site	SNP	ENST00000289968.6	37		CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532339	0.27387	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6581	0.85234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP17	24850227	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.056000	0.71111	2.518000	0.84900	0.561000	0.74099	.		0.537	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	Intron	106	325	1	0	6.84326e-50	1	8.47065e-50	106	325					A	24942726	C	A	24942726	5	1	79	1	0	0	0	0	0	0	1	0	867	811	28	3	759	3	ARHGAP17	16	24942726	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11260	24942726	65412027	16136	26453											
ARHGAP17	55114	broad.mit.edu	37	chr16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctggggctgattttggCcagatgctatctgactgttg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	600	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)			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)		CTGATTTTGGCCAGATGCTAT	0.567																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1798-1800)gGc>gAc		Rho GTPase activating protein 17							85	79	81					16																	24946886		2197	4300	6497	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.chr16:24946886C>T	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.1799G>A	16.37:g.24946886C>T	ENSP00000289968:p.Gly600Asp					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	p.G600D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	18	1868	-			600			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1799G>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524083	0.44866	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22945	1.93;1.96	5.3	4.32	0.51571	.	0.158822	0.29579	N	0.011758	T	0.41026	0.1141	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.966;0.999;1.0	P;P;D;D	0.70016	0.876;0.598;0.967;0.957	T	0.19095	-1.0316	10	0.16420	T	0.52	.	10.8375	0.46696	0.1965:0.8035:0.0:0.0	.	522;600;133;433	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	600;522;600	ENSP00000289968:G600D;ENSP00000303130:G522D	ENSP00000289968:G600D	G	-	2	0	ARHGAP17	24854387	0.786000	0.28738	0.719000	0.30619	0.112000	0.19704	1.485000	0.35519	1.172000	0.42781	0.655000	0.94253	GGC		0.567	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		17	137	0	0	0	1	0	17	137					T	24946886	C	T	24946886	3	4	79	1	0	0	0	0	1	0	0	0	867	739	26	2	858	2	ARHGAP17	16	24946886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4160	24946886	65407867	16137	26454											
ARHGAP17	55114	broad.mit.edu	37	chr16	24958811	24958811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacttacccttcattTctggcccataacaagttagg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000303665.5_Silent_p.R411R|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	411	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			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)		ACCCTTCATTTCTGGCCCATA	0.403																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1231-1233)agA>agG		Rho GTPase activating protein 17							99	86	91					16																	24958811		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24958811T>C	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.1233A>G	16.37:g.24958811T>C						ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	14	1302	-			411			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.1233A>G	CCDS32409.1																																																																																				0.403	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		18	262	0	0	0	1	0	18	262					C	24958811	T	C	24958811	2	2	79	1	0	0	0	0	0	0	0	1	867	1780	62	4		4	ARHGAP17	16	24958811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11925	24958811	65395942	16138	26455											
LCMT1	51451	broad.mit.edu	37	chr16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaattgtcaaccttgggGcaggcatggataccaccttc	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	99					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(295-297)Gca>Aca		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						108	106	107					16																	25143812		1933	4130	6063	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143812G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.295G>A	16.37:g.25143812G>A	ENSP00000382021:p.Ala99Thr					LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	3	450	+			99					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.295G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407039	0.42715	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.30448	1.53;1.53	5.51	4.54	0.55810	.	0.121669	0.56097	D	0.000037	T	0.67126	0.2860	H	0.96175	3.78	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.81914	0.982;0.995	T	0.78339	-0.2242	10	0.87932	D	0	-16.1964	13.5204	0.61563	0.0:0.0:0.8429:0.1571	.	99;99	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	99;99;116	ENSP00000382021:A99T;ENSP00000370353:A99T	ENSP00000370349:A116T	A	+	1	0	LCMT1	25051313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.312000	0.45043	0.655000	0.94253	GCA		0.433	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		30	137	0	0	0	1	0	30	137					A	25143812	G	A	25143812	3	1	79	1	0	0	0	0	1	0	0	0	8709	1203	42	2	305	2	LCMT1	16	25143812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185001	25143812	65210941	16139	26456											
LCMT1	51451	broad.mit.edu	37	chr16	25189343	25189343	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggagataacttattAatctgtcgaaggcttatgcc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000380966.4_Silent_p.*280*|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	0					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(1003-1005)tAa>tGa		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						75	80	79					16																	25189343		1892	4125	6017	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25189343A>G	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.1004A>G	16.37:g.25189343A>G						LCMT1_ENST00000380966.4_Silent_p.*280*|LCMT1_ENST00000572869.1_3'UTR	p.*335*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	11	1159	+			0					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.1004A>G	CCDS45445.1																																																																																				0.607	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		90	359	0	0	0	1	0	90	359					G	25189343	A	G	25189343	2	3	79	1	0	0	0	0	0	0	0	1	8709	369	13	4		4	LCMT1	16	25189343	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45531	25189343	65165410	16140	26457											
AQP8	343	broad.mit.edu	37	chr16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctggtcgaactgctggGctctgctctcttcatcttca	9	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622																																						ENST00000219660.5																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(130-132)gGc>gAc		aquaporin 8							202	194	197					16																	25228637		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25228637G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.131G>A	16.37:g.25228637G>A	ENSP00000219660:p.Gly44Asp					AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	p.G44D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	2	256	+			44					Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.131G>A	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850675	0.91277	.	.	ENSG00000103375	ENST00000219660	D	0.96856	-4.15	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	-18.2355	18.0064	0.89211	0.0:0.0:1.0:0.0	.	44	O94778	AQP8_HUMAN	D	44	ENSP00000219660:G44D	ENSP00000219660:G44D	G	+	2	0	AQP8	25136138	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.267000	0.95665	2.595000	0.87683	0.555000	0.69702	GGC		0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		286	1224	0	0	0	1	0	286	1224					A	25228637	G	A	25228637	3	1	79	1	0	0	0	0	1	0	0	0	832	1203	42	2	137	2	AQP8	16	25228637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39294	25228637	65126116	16141	26458											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctccagtgtgtattctccGatgttctcgaaatctcgtac	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2716-2718)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							97	84	89					16																	25251325		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251325G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2716C>T	16.37:g.25251325G>A	ENSP00000331626:p.Arg906Trp						p.R906W	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3519	-			906					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2716C>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	ZKSCAN2	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		77	270	0	0	0	1	0	77	270					A	25251325	G	A	25251325	3	1	79	1	0	0	0	0	1	0	0	0	17740	1057	37	1	191	1	ZKSCAN2	16	25251325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22688	25251325	65103428	16142	26459											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgaactctccggtgggCgctgaaatgagaactgttgg	15	7	1	3	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2626-2628)Gcc>Acc		zinc finger with KRAB and SCAN domains 2		C	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	85	79	81		2626	4.7	1	16	dbSNP_134	81	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZKSCAN2	NM_001012981.4	58	0,7,6490	TT,TC,CC		0.0698,0.0228,0.0539	probably-damaging	876/968	25251415	7,12987	2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251415C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2626G>A	16.37:g.25251415C>T	ENSP00000331626:p.Ala876Thr						p.A876T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3429	-			876					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2626G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	ZKSCAN2	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		87	292	0	0	0	1	0	87	292					T	25251415	C	T	25251415	3	4	79	1	0	0	0	0	1	0	0	0	17740	768	27	1	281	1	ZKSCAN2	16	25251415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	25251415	65103338	16143	26460											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagcgcttcataaaaccGagtctcacggaggatatcaa	9	9	3	1	rs544572365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	516					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17400	0.0		0.0	False		,,,				2504	0.001					ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1546-1548)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							58	58	58					16																	25255541		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255541G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1546C>T	16.37:g.25255541G>A	ENSP00000331626:p.Arg516Trp						p.R516W	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2349	-			516					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1546C>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021567	0.75275	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.48836	0.8	5.48	4.53	0.55603	SANT domain, DNA binding (1);	0.122880	0.38272	N	0.001742	T	0.42944	0.1225	L	0.53249	1.67	0.36416	D	0.864056	B;B	0.22346	0.04;0.068	B;B	0.19946	0.027;0.027	T	0.52290	-0.8595	10	0.66056	D	0.02	-6.1889	10.6188	0.45467	0.0887:0.0:0.9113:0.0	.	312;516	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	516	ENSP00000331626:R516W	ENSP00000331626:R516W	R	-	1	2	ZKSCAN2	25163042	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.457000	0.53007	1.456000	0.47831	0.655000	0.94253	CGG		0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		100	393	0	0	0	1	0	100	393					A	25255541	G	A	25255541	3	1	79	1	0	0	0	0	1	0	0	0	17740	1057	37	1	1365	1	ZKSCAN2	16	25255541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4126	25255541	65099212	16144	26461											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggacctgaatagcatgaActgacttttccttgacgtag	10	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(931-933)gTt>gGt		zinc finger with KRAB and SCAN domains 2							131	118	123					16																	25258585		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258585A>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.932T>G	16.37:g.25258585A>C	ENSP00000331626:p.Val311Gly						p.V311G	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1735	-			311					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.932T>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656243	0.14580	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.76	3.34	0.38264	.	0.246896	0.28241	N	0.016079	T	0.10895	0.0266	L	0.38175	1.15	0.52099	D	0.999948	B;P;B	0.51791	0.0;0.948;0.001	B;P;B	0.53861	0.001;0.736;0.003	T	0.13019	-1.0525	10	0.38643	T	0.18	-10.3527	5.4928	0.16785	0.6867:0.2218:0.0915:0.0	.	107;311;311	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	311	ENSP00000331626:V311G	ENSP00000331626:V311G	V	-	2	0	ZKSCAN2	25166086	0.001000	0.12720	0.920000	0.36463	0.744000	0.42396	0.351000	0.20096	1.109000	0.41680	0.533000	0.62120	GTT		0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		73	354	0	0	0	1	0	73	354					C	25258585	A	C	25258585	3	2	79	1	0	0	0	0	1	0	0	0	17740	43	2	4	1983	4	ZKSCAN2	16	25258585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3044	25258585	65096168	16145	26462											
JMJD5	79831	broad.mit.edu	37	chr16	27226239	27226239	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgccgaactgtcccAgtggaagttggttcgaggta	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27226239A>G	ENST00000286096.4	+	4	881	c.708A>G	c.(706-708)ccA>ccG	p.P236P	KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.P274P|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	236					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GAACTGTCCCAGTGGAAGTTG	0.478																																						ENST00000286096.4																			0											c.(706-708)ccA>ccG		lysine (K)-specific demethylase 8							189	152	165					16																	27226239		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27226239A>G	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.708A>G	16.37:g.27226239A>G						KDM8_ENST00000567785.1_3'UTR|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.P274P	p.P236P	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			4	881	+			236					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.708A>G	CCDS10627.1																																																																																				0.478	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		19	414	0	0	0	1	0	19	414					G	27226239	A	G	27226239	2	3	79	1	0	0	0	0	0	0	0	1	7982	175	7	4		4	JMJD5	16	27226239	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1967654	27226239	63128514	16146	26463											
IL4R	3566	broad.mit.edu	37	chr16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaccttcgggaagtAcgagtgctcacatgccctgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000170630.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	439	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1315-1317)Acg>Gcg		interleukin 4 receptor							71	70	71					16																	27373988		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373988A>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1315A>G	16.37:g.27373988A>G	ENSP00000379111:p.Thr439Ala					IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A	p.T439A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1574	+			439			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1315A>G	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	1.427	-0.571301	0.03882	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.2	-7.59	0.01308	.	9.612440	0.00166	N	0.000001	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.39502	-0.9611	10	0.08599	T	0.76	-16.6382	7.3258	0.26555	0.5114:0.3494:0.1392:0.0	.	424;439;439	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	439;439;424;439	ENSP00000379111:T439A;ENSP00000441667:T439A;ENSP00000370309:T424A;ENSP00000170630:T439A	ENSP00000170630:T439A	T	+	1	0	IL4R	27281489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-1.278000	0.02408	-0.408000	0.06270	ACG		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			18	451	0	0	0	1	0	18	451					G	27373988	A	G	27373988	3	3	79	1	0	0	0	0	1	0	0	0	7728	391	14	4	1367	4	IL4R	16	27373988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	147749	27373988	62980765	16147	26464											
IL21R	50615	broad.mit.edu	37	chr16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggctcacccctggccgGcctggatatggacacgtttg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386). {ECO:0000269|Ref.4}.		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)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1450-1452)gGc>gAc		interleukin 21 receptor							42	39	40					16																	27460438		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460438G>A	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.1451G>A	16.37:g.27460438G>A	ENSP00000338010:p.Gly484Asp					IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D	p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1924	+			484		G -> S (in dbSNP:rs3093386).			A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1451G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359155	0.61403	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15372	2.43;2.43;2.43	4.9	3.93	0.45458	.	0.231408	0.37437	N	0.002082	T	0.28400	0.0702	M	0.63428	1.95	0.34257	D	0.67947	D	0.57571	0.98	P	0.53649	0.731	T	0.43940	-0.9360	10	0.49607	T	0.09	-30.5288	10.9479	0.47312	0.0:0.2238:0.7762:0.0	.	484	Q9HBE5	IL21R_HUMAN	D	484	ENSP00000338010:G484D;ENSP00000379104:G484D;ENSP00000379103:G484D	ENSP00000338010:G484D	G	+	2	0	IL21R	27367939	0.954000	0.32549	0.979000	0.43373	0.803000	0.45373	2.135000	0.42112	1.013000	0.39391	0.561000	0.74099	GGC		0.677	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		34	340	0	0	0	1	0	34	340					A	27460438	G	A	27460438	3	1	79	1	0	0	0	0	1	0	0	0	7701	1203	42	2	1481	2	IL21R	16	27460438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86450	27460438	62894315	16148	26465											
GTF3C1	2975	broad.mit.edu	37	chr16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagacactctcacagTccctgcagggagagggcttg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1976					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)			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						ACTCTCACAGTCCCTGCAGGG	0.627																																						ENST00000356183.4																			0				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						c.(5926-5928)gAc>gGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							64	39	47					16																	27473805		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27473805T>C	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.5927A>G	16.37:g.27473805T>C	ENSP00000348510:p.Asp1976Gly					GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	p.D1976G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			36	5942	-			1976					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5927A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	t	5.628	0.300635	0.10678	.	.	ENSG00000077235	ENST00000356183	T	0.24723	1.84	4.38	1.54	0.23209	.	0.378699	0.22030	N	0.065608	T	0.15176	0.0366	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.13407	0.004;0.009	T	0.23297	-1.0192	10	0.19590	T	0.45	-13.5801	1.1587	0.01801	0.1567:0.139:0.3214:0.3829	.	1976;1951	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1976	ENSP00000348510:D1976G	ENSP00000348510:D1976G	D	-	2	0	GTF3C1	27381306	0.957000	0.32711	0.044000	0.18714	0.126000	0.20510	0.834000	0.27518	0.062000	0.16340	-0.663000	0.03849	GAC		0.627	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		17	132	0	0	0	1	0	17	132					C	27473805	T	C	27473805	3	2	79	1	0	0	0	0	1	0	0	0	6902	1667	58	4	410	4	GTF3C1	16	27473805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13367	27473805	62880948	16149	26466											
GTF3C1	2975	broad.mit.edu	37	chr16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgactccgtgcagatgGtgcttggaaatcgccacgta	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1518					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)			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						CGTGCAGATGGTGCTTGGAAA	0.498																																						ENST00000356183.4																			0				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						c.(4552-4554)aCc>aAc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							115	124	121					16																	27481690		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481690G>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.4553C>A	16.37:g.27481690G>T	ENSP00000348510:p.Thr1518Asn					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4568	-			1518					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4553C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658758	0.67586	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22945	1.93	5.57	5.57	0.84162	.	0.120412	0.64402	D	0.000017	T	0.38108	0.1028	M	0.65975	2.015	0.31874	N	0.619404	P;D	0.53312	0.732;0.959	B;P	0.48030	0.202;0.564	T	0.42965	-0.9420	10	0.33940	T	0.23	-12.9464	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1518;1518	Q12789;Q12789-3	TF3C1_HUMAN;.	N	1518;1514	ENSP00000348510:T1518N	ENSP00000348510:T1518N	T	-	2	0	GTF3C1	27389191	1.000000	0.71417	0.822000	0.32727	0.979000	0.70002	6.373000	0.73128	2.618000	0.88619	0.591000	0.81541	ACC		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		26	919	1	0	5.61819e-17	1	6.18885e-17	26	919					T	27481690	G	T	27481690	3	4	79	1	0	0	0	0	1	0	0	0	6902	1261	44	3	1804	3	GTF3C1	16	27481690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7885	27481690	62873063	16150	26467											
GTF3C1	2975	broad.mit.edu	37	chr16	27495625	27495625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagactcttcaaacgtgGcatgcaaaatgtcccgtacc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27495625G>A	ENST00000356183.4	-	25	3923	c.3908C>T	c.(3907-3909)gCc>gTc	p.A1303V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1303					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)			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						TTCAAACGTGGCATGCAAAAT	0.468																																						ENST00000356183.4																			0				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						c.(3907-3909)gCc>gTc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							113	105	107					16																	27495625		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27495625G>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.3908C>T	16.37:g.27495625G>A	ENSP00000348510:p.Ala1303Val					GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			25	3923	-			1303					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3908C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586325	0.46110	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.91	3.88	0.44766	.	0.545009	0.19901	N	0.103513	T	0.31544	0.0800	L	0.60455	1.87	0.09310	N	1	P;P	0.51449	0.945;0.868	P;P	0.47528	0.549;0.526	T	0.08953	-1.0697	10	0.39692	T	0.17	-3.1335	11.8013	0.52128	0.0:0.2493:0.6215:0.1292	.	1303;1303	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1303;1299	ENSP00000348510:A1303V	ENSP00000348510:A1303V	A	-	2	0	GTF3C1	27403126	0.735000	0.28153	0.001000	0.08648	0.577000	0.36160	4.116000	0.57871	0.777000	0.33496	-0.176000	0.13171	GCC		0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		10	285	0	0	0	1	0	10	285					A	27495625	G	A	27495625	3	1	79	1	0	0	0	0	1	0	0	0	6902	1203	42	2	2473	2	GTF3C1	16	27495625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13935	27495625	62859128	16151	26468											
GTF3C1	2975	broad.mit.edu	37	chr16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcatggcgcacttgcGctccaggttgtgcttgtcca	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1089					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)			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						GCGCACTTGCGCTCCAGGTTG	0.667																																						ENST00000356183.4																			0				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						c.(3265-3267)Cgc>Tgc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							120	69	87					16																	27500951		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27500951G>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.3265C>T	16.37:g.27500951G>A	ENSP00000348510:p.Arg1089Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			20	3280	-			1089					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3265C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552817	0.86127	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.05	5.05	0.67936	.	0.257040	0.39475	N	0.001348	T	0.49474	0.1559	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	P;D	0.65874	0.8;0.939	T	0.52852	-0.8520	10	0.72032	D	0.01	.	16.2195	0.82251	0.0:0.0:1.0:0.0	.	1089;1089	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1089;1087	ENSP00000348510:R1089C	ENSP00000348510:R1089C	R	-	1	0	GTF3C1	27408452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.005000	0.57075	2.351000	0.79841	0.655000	0.94253	CGC		0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		20	84	0	0	0	1	0	20	84					A	27500951	G	A	27500951	3	1	79	1	0	0	0	0	1	0	0	0	6902	1087	38	1	3136	1	GTF3C1	16	27500951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5326	27500951	62853802	16152	26469											
GTF3C1	2975	broad.mit.edu	37	chr16	27503771	27503771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggctgctgcgggccagGttgtaatgtgggtcgcagat	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1013					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)			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						TGCGGGCCAGGTTGTAATGTG	0.522																																						ENST00000356183.4																			0				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						c.(3037-3039)aaC>aaT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							66	73	71					16																	27503771		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503771G>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.3039C>T	16.37:g.27503771G>A						GTF3C1_ENST00000561623.1_Silent_p.N1013N	p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			19	3054	-			1013					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.3039C>T	CCDS32414.1																																																																																				0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		86	432	0	0	0	1	0	86	432					A	27503771	G	A	27503771	2	1	79	1	0	0	0	0	0	0	0	1	6902	1252	44	2		2	GTF3C1	16	27503771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2820	27503771	62850982	16153	26470											
GTF3C1	2975	broad.mit.edu	37	chr16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgactcctgctttatcGttctccgttcactgatgaag	8	12	2	3	rs531481141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831					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)			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						CTGCTTTATCGTTCTCCGTTC	0.602																																						ENST00000356183.4																			0				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						c.(2491-2493)aCg>aTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							60	51	54					16																	27506672		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27506672G>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.2492C>T	16.37:g.27506672G>A	ENSP00000348510:p.Thr831Met					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			15	2507	-			831					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2492C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142122	0.37825	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.55	-8.25	0.01025	.	1.765350	0.02242	N	0.065889	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.15484	0.006;0.013	T	0.24799	-1.0150	10	0.56958	D	0.05	-10.6773	0.692	0.00893	0.3206:0.1841:0.3077:0.1876	.	831;831	Q12789;Q12789-3	TF3C1_HUMAN;.	M	831;829	ENSP00000348510:T831M	ENSP00000348510:T831M	T	-	2	0	GTF3C1	27414173	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.124000	0.01318	-1.048000	0.03238	-0.152000	0.13540	ACG		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		38	237	0	0	0	1	0	38	237					A	27506672	G	A	27506672	3	1	79	1	0	0	0	0	1	0	0	0	6902	1145	40	1	3929	1	GTF3C1	16	27506672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2901	27506672	62848081	16154	26471											
KIAA0556	23247	broad.mit.edu	37	chr16	27642431	27642431	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagctgaagaagccttaaGacgcagttcacggacagccc	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	ENST00000261588.4	+	5	375	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	119						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAAGCCTTAAGACGCAGTTCA	0.552																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(355-357)aGa>aAa		KIAA0556							44	35	38					16																	27642431		2197	4299	6496	SO:0001583	missense	23247							g.chr16:27642431G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.356G>A	16.37:g.27642431G>A	ENSP00000261588:p.Arg119Lys						p.R119K	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			5	375	+			119					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.356G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747245	0.15710	.	.	ENSG00000047578	ENST00000261588	T	0.47528	0.84	4.87	4.87	0.63330	.	0.674959	0.13056	N	0.417256	T	0.41073	0.1143	L	0.55103	1.725	0.25739	N	0.985187	P	0.41450	0.75	B	0.36808	0.233	T	0.32693	-0.9897	10	0.09338	T	0.73	-4.875	14.9347	0.70944	0.0:0.0:1.0:0.0	.	119	O60303	K0556_HUMAN	K	119	ENSP00000261588:R119K	ENSP00000261588:R119K	R	+	2	0	KIAA0556	27549932	0.995000	0.38212	0.288000	0.24862	0.198000	0.23893	5.066000	0.64351	2.241000	0.73720	0.455000	0.32223	AGA		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		9	22	0	0	0	1	0	9	22					A	27642431	G	A	27642431	3	1	79	1	0	0	0	0	1	0	0	0	8213	942	33	2	374	2	KIAA0556	16	27642431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135759	27642431	62712322	16155	26472											
KIAA0556	23247	broad.mit.edu	37	chr16	27751850	27751850	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacctcatgggcagaaaaatCtgtgagccacccgggaaaac	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	744						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCAGAAAAATCTGTGAGCCAC	0.572																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2230-2232)atC>atA		KIAA0556							70	69	69					16																	27751850		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751850C>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2232C>A	16.37:g.27751850C>A							p.I744I	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2251	+			744					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.2232C>A	CCDS32415.1																																																																																				0.572	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		139	481	1	0	3.43777e-51	1	4.26453e-51	139	481					A	27751850	C	A	27751850	2	1	79	1	0	0	0	0	0	0	0	1	8213	903	32	3		3	KIAA0556	16	27751850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109419	27751850	62602903	16156	26473											
KIAA0556	23247	broad.mit.edu	37	chr16	27789047	27789047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacaccatcctcttcacCgaggacagggacatccgcca	7	17	2	0	rs113619157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1556						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTCTTCACCGAGGACAGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4666-4668)acC>acT		KIAA0556		C		1,4393	2.1+/-5.4	0,1,2196	111	92	98		4668	-1.6	1	16	dbSNP_132	98	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	KIAA0556	NM_015202.2		0,13,6484	TT,TC,CC		0.1395,0.0228,0.1		1556/1619	27789047	13,12981	2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27789047C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4668C>T	16.37:g.27789047C>T							p.T1556T	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			26	4687	+			1556					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4668C>T	CCDS32415.1																																																																																				0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		103	417	0	0	0	1	0	103	417					T	27789047	C	T	27789047	2	4	79	1	0	0	0	0	0	0	0	1	8213	639	23	1		1	KIAA0556	16	27789047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37197	27789047	62565706	16157	26474											
GSG1L	146395	broad.mit.edu	37	chr16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccacttacgggcagggtAtctctcgtggcggcagtcta	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000447459.2	-	6	973	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	297					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(478-480)Tac>Aac		GSG1-like							80	63	69					16																	27818817		2196	4300	6496	SO:0001583	missense	146395					integral to membrane		g.chr16:27818817A>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.889T>A	16.37:g.27818817A>T	ENSP00000394954:p.Tyr297Asn					GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N|GSG1L_ENST00000447459.2_Missense_Mutation_p.Y297N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N	p.Y160N			Q6UXU4	GSG1L_HUMAN			7	1027	-			297					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.478T>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447450	0.25987	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.39056	1.2;1.1	3.81	2.71	0.32032	.	0.845752	0.10437	N	0.674780	T	0.32585	0.0834	N	0.19112	0.55	0.29055	N	0.884258	P;P;P	0.50528	0.936;0.891;0.808	P;P;B	0.48227	0.534;0.571;0.212	T	0.14117	-1.0484	10	0.45353	T	0.12	.	6.0671	0.19870	0.8844:0.0:0.1156:0.0	.	246;160;297	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	297;246;160;142	ENSP00000394954:Y297N;ENSP00000379074:Y246N	ENSP00000370282:Y142N	Y	-	1	0	GSG1L	27726318	1.000000	0.71417	0.847000	0.33407	0.620000	0.37586	1.654000	0.37334	0.816000	0.34421	0.459000	0.35465	TAC		0.512	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		22	99	0	0	0	1	0	22	99					T	27818817	A	T	27818817	3	4	79	1	0	0	0	0	1	0	0	0	6851	449	16	5	114	5	GSG1L	16	27818817	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29770	27818817	62535936	16158	26475											
GSG1L	146395	broad.mit.edu	37	chr16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctcaaagaccttgcgCttgtgccggaactcaatgac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000447459.2	-	5	837	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	251					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(286-288)aaG>aaT		GSG1-like							103	76	85					16																	27840187		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27840187C>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.753G>T	16.37:g.27840187C>A	ENSP00000394954:p.Lys251Asn					GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N|GSG1L_ENST00000447459.2_Missense_Mutation_p.K251N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N	p.K96N			Q6UXU4	GSG1L_HUMAN			5	837	-			251					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.288G>T	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440517	0.63067	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.35421	1.31;1.31	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.40543	1.245	0.51233	D	0.999918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.973;0.982;0.991	T	0.20107	-1.0285	10	0.42905	T	0.14	3.1709	6.2651	0.20922	0.0:0.5726:0.14:0.2874	.	200;96;251	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	251;200;96;96	ENSP00000394954:K251N;ENSP00000379074:K200N	ENSP00000370282:K96N	K	-	3	2	GSG1L	27747688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.093000	0.41710	0.539000	0.28788	0.650000	0.86243	AAG		0.592	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		53	253	1	0	6.4308e-24	1	7.32928e-24	53	253					A	27840187	C	A	27840187	3	1	79	1	0	0	0	0	1	0	0	0	6851	796	28	3	254	3	GSG1L	16	27840187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21370	27840187	62514566	16159	26476											
GSG1L	146395	broad.mit.edu	37	chr16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctccagtcctcaggacCgaggctcacggtgacctgga	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000447459.2	-	4	697	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	205					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(148-150)Ggt>Agt		GSG1-like							95	64	75					16																	27856320		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27856320C>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.613G>A	16.37:g.27856320C>T	ENSP00000394954:p.Gly205Ser					GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S|GSG1L_ENST00000447459.2_Missense_Mutation_p.G205S|GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S	p.G50S			Q6UXU4	GSG1L_HUMAN			4	697	-			205					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.148G>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699849	0.96802	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.87571	0.96;1.16;-2.27;-2.27	5.25	5.25	0.73442	.	0.057467	0.64402	D	0.000002	D	0.93262	0.7853	M	0.76574	2.34	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	0.93950	0.7231	10	0.87932	D	0	-6.9936	17.6218	0.88084	0.0:1.0:0.0:0.0	.	154;50;205	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	S	205;154;50;50	ENSP00000394954:G205S;ENSP00000379074:G154S;ENSP00000370283:G50S;ENSP00000370282:G50S	ENSP00000370282:G50S	G	-	1	0	GSG1L	27763821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.496000	0.81526	2.460000	0.83146	0.655000	0.94253	GGT		0.597	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		21	95	0	0	0	1	0	21	95					T	27856320	C	T	27856320	3	4	79	1	0	0	0	0	1	0	0	0	6851	652	23	1	398	1	GSG1L	16	27856320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16133	27856320	62498433	16160	26477											
XPO6	23214	broad.mit.edu	37	chr16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgccgttaactgacgCcatctttctggcccggatgt	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(868-870)Gcg>Acg		exportin 6							67	72	71					16																	28167624		2004	4164	6168	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167624C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.868G>A	16.37:g.28167624C>T	ENSP00000302790:p.Ala290Thr					XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	p.A290T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			7	1368	-			290					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.868G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471401	0.43942	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	Armadillo-type fold (1);	0.149306	0.64402	D	0.000008	T	0.29716	0.0742	N	0.08118	0	0.46981	D	0.999273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.15066	T	0.55	-10.5702	18.0718	0.89410	0.0:1.0:0.0:0.0	.	290;290	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	290	ENSP00000302790:A290T	ENSP00000302790:A290T	A	-	1	0	XPO6	28075125	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.049000	0.41288	2.941000	0.99782	0.655000	0.94253	GCG		0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		98	355	0	0	0	1	0	98	355					T	28167624	C	T	28167624	3	4	79	1	0	0	0	0	1	0	0	0	17502	739	26	2	2581	2	XPO6	16	28167624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311304	28167624	62187129	16161	26478											
SBK1	388228	broad.mit.edu	37	chr16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggccgcccgcaggtggGgctccctgaggacacggtga	16	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(433-435)gGg>gAg		SH3 domain binding kinase 1							5	7	7					16																	28331401		2107	4150	6257	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331401G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"SH3-binding domain kinase 1"				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.434G>A	16.37:g.28331401G>A	ENSP00000343248:p.Gly145Glu						p.G145E	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1223	+			145			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.434G>A	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577179	0.86645	.	.	ENSG00000188322	ENST00000341901	T	0.22336	1.96	4.17	4.17	0.49024	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	0.46132	0.1377	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45264	-0.9273	10	0.40728	T	0.16	-27.0193	13.9542	0.64137	0.0:0.0:1.0:0.0	.	145	Q52WX2	SBK1_HUMAN	E	145	ENSP00000343248:G145E	ENSP00000343248:G145E	G	+	2	0	SBK1	28238902	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.561000	0.98142	1.846000	0.53633	0.561000	0.74099	GGG		0.711	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		15	45	0	0	0	1	0	15	45					A	28331401	G	A	28331401	3	1	79	1	0	0	0	0	1	0	0	0	13910	1232	43	2	444	2	SBK1	16	28331401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163777	28331401	62023352	16162	26479											
CLN3	1201	broad.mit.edu	37	chr16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgctcctcttaccagcGgtattgctgagcgtgactca	9	15	2	2	rs386833741		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	320					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(958-960)Cgc>Tgc		ceroid-lipofuscinosis, neuronal 3							45	33	37					16																	28493652		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493652G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.958C>T	16.37:g.28493652G>A	ENSP00000454229:p.Arg320Cys					CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C	p.R320C			Q13286	CLN3_HUMAN			14	1777	-			320					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.958C>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926431	0.73327	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.94138	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;-3.36	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88640	2.97	0.49130	D	0.99975	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.997;1.0;0.998;1.0	D	0.97495	1.0056	10	0.59425	D	0.04	.	16.6881	0.85315	0.0:0.0:1.0:0.0	.	296;303;218;220;266;272;320;221	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	C	242;320;320;303;272;266;220;221;210	ENSP00000443221:R242C;ENSP00000353073:R320C;ENSP00000353116:R320C;ENSP00000346650:R303C;ENSP00000347660:R272C;ENSP00000350523:R266C;ENSP00000379014:R220C;ENSP00000350457:R221C;ENSP00000349586:R210C	ENSP00000346650:R303C	R	-	1	0	CLN3	28401153	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.748000	0.85085	2.547000	0.85894	0.486000	0.48141	CGC		0.617	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			31	121	0	0	0	1	0	31	121					A	28493652	G	A	28493652	3	1	79	1	0	0	0	0	1	0	0	0	3552	1116	39	1	374	1	CLN3	16	28493652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162251	28493652	61861101	16163	26480											
APOB48R	55911	broad.mit.edu	37	chr16	28509778	28509778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcctcgcgcaccctggCatgatgcaggagctgcaagc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28509778C>T	ENST00000431282.1	+	5	3229	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Intron|APOBR_ENST00000564831.1_Silent_p.G1082G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1073					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGCACCCTGGCATGATGCAGG	0.672																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(3244-3246)ggC>ggT		apolipoprotein B receptor							22	28	26					16																	28509778		2036	4152	6188	SO:0001819	synonymous_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509778C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.3219C>T	16.37:g.28509778C>T						APOBR_ENST00000328423.5_Intron|APOBR_ENST00000431282.1_Silent_p.G1073G	p.G1082G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			4	3279	+			1073					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.3246C>T																																																																																					0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		15	50	0	0	0	1	0	15	50					T	28509778	C	T	28509778	2	4	79	1	0	0	0	0	0	0	0	1	786	697	25	2		2	APOB48R	16	28509778	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16126	28509778	61844975	16164	26481											
CCDC101	112869	broad.mit.edu	37	chr16	28596992	28596992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctattaccggacaaagCtgcgtggcctctacacaacc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	59					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)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(175-177)Ctg>Ttg		coiled-coil domain containing 101							121	87	98					16																	28596992		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.chr16:28596992C>T	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.175C>T	16.37:g.28596992C>T							p.L59L	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			4	362	+			59					Q96MF5	Silent	SNP	ENST00000317058.3	37	c.175C>T	CCDS10635.1																																																																																				0.597	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		74	309	0	0	0	1	0	74	309					T	28596992	C	T	28596992	2	4	79	1	0	0	0	0	0	0	0	1	2742	796	28	2		2	CCDC101	16	28596992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87214	28596992	61757761	16165	26482											
CCDC101	112869	broad.mit.edu	37	chr16	28602223	28602223	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatccccagactacctgcttCtaccgcgccctgatccatgc	6	18	1	2	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	244	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				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)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(730-732)ttC>ttT		coiled-coil domain containing 101							49	44	46					16																	28602223		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.chr16:28602223C>T	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.732C>T	16.37:g.28602223C>T							p.F244F	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			9	919	+			244			SGF29 C-terminal.		Q96MF5	Silent	SNP	ENST00000317058.3	37	c.732C>T	CCDS10635.1																																																																																				0.642	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		23	108	0	0	0	1	0	23	108					T	28602223	C	T	28602223	2	4	79	1	0	0	0	0	0	0	0	1	2742	912	32	2		2	CCDC101	16	28602223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5231	28602223	61752530	16166	26483											
SULT1A2	6799	broad.mit.edu	37	chr16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcccatcaagcccaccttCtccagccatgaacttctcca	3	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000395630.1	-	5	846	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572																																						ENST00000395630.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(496-498)Gaa>Taa		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141	136	137					16																	28604766		2197	4300	6497	SO:0001587	stop_gained	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28604766C>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.496G>T	16.37:g.28604766C>A	ENSP00000378992:p.Glu166*					SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	p.E166*	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN			5	846	-			166					A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	37	c.496G>T	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	15.58	2.875264	0.51695	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.6	-9.2	0.00682	.	0.747635	0.12823	N	0.436265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4016	0.32590	0.0:0.1891:0.2499:0.561	.	.	.	.	X	166	.	ENSP00000338742:E166X	E	-	1	0	SULT1A2	28512267	0.002000	0.14202	0.826000	0.32828	0.145000	0.21501	-0.098000	0.11024	-1.320000	0.02283	-0.300000	0.09419	GAA		0.572	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		86	379	1	0	2.3666e-43	1	2.88907e-43	86	379					A	28604766	C	A	28604766	4	1	79	1	0	0	0	0	0	1	0	0	15425	922	32	3	407	3	SULT1A2	16	28604766	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2543	28604766	61749987	16167	26484											
EIF3C	8663	broad.mit.edu	37	chr16	28734529	28734529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcagccgagaagaaacGggaggacaaagctaagaaga	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734529G>A	ENST00000331666.6	+	9	1007	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GAGAAGAAACGGGAGGACAAA	0.582																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(820-822)cGg>cAg		eukaryotic translation initiation factor 3, subunit C							155	175	168					16																	28734529		2197	4297	6494	SO:0001583	missense	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734529G>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.821G>A	16.37:g.28734529G>A	ENSP00000332604:p.Arg274Gln					EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q	p.R274Q			Q99613	EIF3C_HUMAN			9	1007	+			274						Missense_Mutation	SNP	ENST00000331666.6	37	c.821G>A	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.756344	0.49362	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985	.	.	.	4.09	4.09	0.47781	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.547855	0.18524	N	0.138683	T	0.34861	0.0912	N	0.16903	0.455	0.37154	D	0.90227	P;P;P	0.51933	0.949;0.909;0.949	P;B;P	0.45660	0.489;0.113;0.489	T	0.21143	-1.0254	9	0.20519	T	0.43	.	13.7462	0.62876	0.0:0.0:1.0:0.0	.	264;60;274	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	Q	274;274;259	.	ENSP00000332604:R274Q	R	+	2	0	EIF3C	28642030	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.273000	0.51623	2.286000	0.76751	0.442000	0.29010	CGG		0.582	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		56	1151	0	0	0	1	0	56	1151					A	28734529	G	A	28734529	3	1	79	1	0	0	0	0	1	0	0	0	5030	1116	39	1	3676	1	EIF3C	16	28734529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129763	28734529	61620224	16168	26485											
EIF3C	8663	broad.mit.edu	37	chr16	28734551	28734551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaaagctaagaagaaGcacgacaggaaatccaagcg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000566501.1_Silent_p.K281K					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(841-843)aaG>aaA		eukaryotic translation initiation factor 3, subunit C							255	291	278					16																	28734551		2197	4298	6495	SO:0001819	synonymous_variant	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734551G>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.843G>A	16.37:g.28734551G>A						EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K	p.K281K			Q99613	EIF3C_HUMAN			9	1029	+			281						Silent	SNP	ENST00000331666.6	37	c.843G>A	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	g	1.696	-0.502756	0.04261	.	.	ENSG00000184110	ENST00000395583	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0464	0.64708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3C	28642052	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.167000	0.50793	2.356000	0.79943	0.545000	0.68477	.		0.577	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		187	1982	0	0	0	1	0	187	1982					A	28734551	G	A	28734551	2	1	79	1	0	0	0	0	0	0	0	1	5030	962	34	2		2	EIF3C	16	28734551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	28734551	61620202	16169	26486											
ATXN2L	11273	broad.mit.edu	37	chr16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttaagccaagtgatgTcatgcttgttcacttccgaa	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000336783.4	+	5	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	190					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(568-570)gTc>gGc		ataxin 2-like							247	202	217					16																	28837664		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28837664T>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.569T>G	16.37:g.28837664T>G	ENSP00000338718:p.Val190Gly					ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G	p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			5	736	+			190					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.569T>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	28.8	4.948541	0.92593	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.69;0.7;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.64260	0.2582	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.74023	0.969;0.929;0.982;0.982;0.969;0.969;0.982;0.969	T	0.66945	-0.5795	10	0.87932	D	0	-16.5268	15.0745	0.72066	0.0:0.0:0.0:1.0	.	190;190;190;190;190;190;190;190	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	G	190	ENSP00000341459:V190G;ENSP00000378917:V190G;ENSP00000338718:V190G;ENSP00000372133:V190G;ENSP00000315650:V190G	ENSP00000315650:V190G	V	+	2	0	ATXN2L	28745165	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.597000	0.82733	2.201000	0.70794	0.459000	0.35465	GTC		0.507	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		85	431	0	0	0	1	0	85	431					G	28837664	T	G	28837664	3	3	79	1	0	0	0	0	1	0	0	0	1213	1667	58	4	587	4	ATXN2L	16	28837664	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103113	28837664	61517089	16170	26487											
ATXN2L	11273	broad.mit.edu	37	chr16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtccccggggaggagttCgatgcagcagctctcggggc	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612																																						ENST00000336783.4																			2	Substitution - Nonsense(2)	p.R365*(2)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1093-1095)Cga>Tga		ataxin 2-like							43	43	43					16																	28841994		2197	4300	6497	SO:0001587	stop_gained	11273					membrane		g.chr16:28841994C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1093C>T	16.37:g.28841994C>T	ENSP00000338718:p.Arg365*					ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*	p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			9	1260	+			365					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	c.1093C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	38	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	ATXN2L	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA		0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		62	231	0	0	0	1	0	62	231					T	28841994	C	T	28841994	4	4	79	1	0	0	0	0	0	1	0	0	1213	876	31	1	1127	1	ATXN2L	16	28841994	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4330	28841994	61512759	16171	26488											
SH2B1	25970	broad.mit.edu	37	chr16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggcatcctgcagtggCgggggaccgttgaccctccc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000322610.8	+	4	956	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	173	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(517-519)Cgg>Tgg		SH2B adaptor protein 1							78	74	75					16																	28877932		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877932C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.517C>T	16.37:g.28877932C>T	ENSP00000321221:p.Arg173Trp					SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R173W|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W	p.R173W	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			1	3808	+			173			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.517C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290829	0.59976	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.60171	0.21;0.23;0.25;0.25	4.48	3.45	0.39498	.	0.000000	0.64402	D	0.000014	T	0.57359	0.2048	N	0.19112	0.55	0.40827	D	0.98355	D;D;D	0.76494	0.986;0.999;0.99	B;D;B	0.67548	0.432;0.952;0.249	T	0.62497	-0.6842	10	0.87932	D	0	-25.0824	9.5837	0.39504	0.4051:0.5949:0.0:0.0	.	173;173;173	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	W	173	ENSP00000321221:R173W;ENSP00000352232:R173W;ENSP00000378903:R173W;ENSP00000337163:R173W	ENSP00000321221:R173W	R	+	1	2	SH2B1	28785433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.960000	0.29253	2.055000	0.61198	0.455000	0.32223	CGG		0.642	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		131	433	0	0	0	1	0	131	433					T	28877932	C	T	28877932	3	4	79	1	0	0	0	0	1	0	0	0	14277	759	27	1	519	1	SH2B1	16	28877932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35938	28877932	61476821	16172	26489											
SH2B1	25970	broad.mit.edu	37	chr16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagtgatgttgtccTtgtcagctatgtcccatcct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000322610.8	+	10	2301	c.1862T>G	c.(1861-1863)cTt>cGt	p.L621R	SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	621	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GATGTTGTCCTTGTCAGCTAT	0.602																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1861-1863)cTt>cGt		SH2B adaptor protein 1							104	89	94					16																	28883991		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883991T>G	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1862T>G	16.37:g.28883991T>G	ENSP00000321221:p.Leu621Arg					SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.L621R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R	p.L621R	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			7	5153	+			621			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1862T>G	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	t	19.48	3.835100	0.71373	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.1	5.1	0.69264	SH2 motif (1);	0.000000	0.64402	D	0.000007	D	0.98994	0.9657	M	0.89214	3.015	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-12.0959	13.8724	0.63626	0.0:0.0:0.0:1.0	.	285;311;621;621;621	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	621;311;621;285;621;621	ENSP00000321221:L621R;ENSP00000440354:L311R;ENSP00000352232:L621R;ENSP00000438784:L285R;ENSP00000378903:L621R;ENSP00000337163:L621R	ENSP00000321221:L621R	L	+	2	0	SH2B1	28791492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.915000	0.55452	0.456000	0.33151	CTT		0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		16	315	0	0	0	1	0	16	315					G	28883991	T	G	28883991	3	3	79	1	0	0	0	0	1	0	0	0	14277	1609	56	4	1888	4	SH2B1	16	28883991	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6059	28883991	61470762	16173	26490											
ATP2A1	487	broad.mit.edu	37	chr16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacctgcctggccctggGtacccgtcggatggcaaaga	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000357084.3	+	9	1232	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G322D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	322					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(964-966)gGt>gAt		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							128	115	119					16																	28900144		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900144G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.965G>A	16.37:g.28900144G>A	ENSP00000349595:p.Gly322Asp					ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G322D	p.G322D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1149	+			322					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.965G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569331	0.86439	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.92397	-2.9;-2.9;-3.03	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.99464	4.58	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	0.99797	1.1034	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	197;322;322	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	322;322;359;197	ENSP00000349595:G322D;ENSP00000378879:G322D;ENSP00000443101:G197D	ENSP00000349595:G322D	G	+	2	0	ATP2A1	28807645	1.000000	0.71417	0.958000	0.39756	0.611000	0.37282	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GGT		0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		153	608	0	0	0	1	0	153	608					A	28900144	G	A	28900144	3	1	79	1	0	0	0	0	1	0	0	0	1137	1261	44	2	999	2	ATP2A1	16	28900144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	28900144	61454609	16174	26491											
ATP2A1	487	broad.mit.edu	37	chr16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcattgccatgggatctGgcactgccgtggccaagact	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000357084.3	+	16	2434	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G723S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	723					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2167-2169)Ggc>Agc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							98	75	83					16																	28913250		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913250G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2167G>A	16.37:g.28913250G>A	ENSP00000349595:p.Gly723Ser					ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G723S	p.G723S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			16	2351	+			723					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2167G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311291	0.95655	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048624	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97962	4.115	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.96	P;P;D	0.64042	0.796;0.835;0.921	D	0.97501	1.0060	10	0.87932	D	0	.	17.6376	0.88127	0.0:0.0:1.0:0.0	.	598;723;723	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	723;723;760;598	ENSP00000349595:G723S;ENSP00000378879:G723S;ENSP00000443101:G598S	ENSP00000349595:G723S	G	+	1	0	ATP2A1	28820751	1.000000	0.71417	0.922000	0.36590	0.900000	0.52787	9.761000	0.98940	2.460000	0.83146	0.561000	0.74099	GGC		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		44	164	0	0	0	1	0	44	164					A	28913250	G	A	28913250	3	1	79	1	0	0	0	0	1	0	0	0	1137	1348	47	2	2229	2	ATP2A1	16	28913250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13106	28913250	61441503	16175	26492											
ATP2A1	487	broad.mit.edu	37	chr16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggctggctcttcttcCgctacatggcaatcgggggt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000357084.3	+	17	2773	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R836C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	836					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2506-2508)Cgc>Tgc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							42	49	46					16																	28913689		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913689C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2506C>T	16.37:g.28913689C>T	ENSP00000349595:p.Arg836Cys					ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R836C	p.R836C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			17	2690	+			836					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2506C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674581	0.67928	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	4.83	3.88	0.44766	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	12.2849	0.54788	0.0:0.9152:0.0:0.0848	.	711;836;836	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	836;836;711	ENSP00000349595:R836C;ENSP00000378879:R836C;ENSP00000443101:R711C	ENSP00000349595:R836C	R	+	1	0	ATP2A1	28821190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	1.250000	0.43966	0.561000	0.74099	CGC		0.662	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		44	508	0	0	0	1	0	44	508					T	28913689	C	T	28913689	3	4	79	1	0	0	0	0	1	0	0	0	1137	652	23	1	2572	1	ATP2A1	16	28913689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	28913689	61441064	16176	26493											
RABEP2	79874	broad.mit.edu	37	chr16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttttcctcattcaaccGctttacctcatggtgcaggc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W|RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	379					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1135-1137)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 2							136	139	138					16																	28920040		2051	4191	6242	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28920040G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1135C>T	16.37:g.28920040G>A	ENSP00000350934:p.Arg379Trp					RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	p.R379W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			8	1723	-			379						Missense_Mutation	SNP	ENST00000358201.4	37	c.1135C>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500304	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.59083	0.29;0.29;0.29	4.78	2.71	0.32032	Rabaptin, GTPase-Rab5 binding (1);	0.305929	0.25106	N	0.033084	T	0.70202	0.3197	M	0.65498	2.005	0.34244	D	0.67799	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.73380	0.907;0.85;0.98	T	0.77046	-0.2733	10	0.87932	D	0	-22.8773	9.8174	0.40860	0.0:0.0:0.6271:0.3729	.	308;347;379	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	W	379;347;308	ENSP00000350934:R379W;ENSP00000350186:R347W;ENSP00000442798:R308W	ENSP00000350186:R347W	R	-	1	2	RABEP2	28827541	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	2.256000	0.43231	0.384000	0.24942	0.462000	0.41574	CGG		0.607	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		139	824	0	0	0	1	0	139	824					A	28920040	G	A	28920040	3	1	79	1	0	0	0	0	1	0	0	0	13012	1086	38	1	598	1	RABEP2	16	28920040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6351	28920040	61434713	16177	26494											
CD19	930	broad.mit.edu	37	chr16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccccatggaagtcaggCccgaggaacctctagtggtg	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000324662.3	+	1	102	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S			P15391	CD19_HUMAN	CD19 molecule	20	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(58-60)Ccc>Tcc		CD19 molecule							120	109	113					16																	28943379		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943379C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.58C>T	16.37:g.28943379C>T	ENSP00000313419:p.Pro20Ser					CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000324662.3_Missense_Mutation_p.P20S	p.P20S	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			1	120	+			20			Ig-like C2-type 1.		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.58C>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424646	0.62733	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.35789	1.29;1.29	5.24	3.16	0.36331	Immunoglobulin-like (1);	0.131330	0.35151	N	0.003401	T	0.22975	0.0555	N	0.24115	0.695	0.28910	N	0.892784	B;B	0.26672	0.129;0.156	B;B	0.30105	0.067;0.111	T	0.13072	-1.0523	10	0.49607	T	0.09	-13.4691	6.5767	0.22571	0.0:0.7214:0.1816:0.097	.	20;20	F5H635;P15391	.;CD19_HUMAN	S	20;5;20	ENSP00000437940:P20S;ENSP00000313419:P20S	ENSP00000313419:P20S	P	+	1	0	CD19	28850880	0.000000	0.05858	0.856000	0.33681	0.030000	0.12068	-0.037000	0.12164	1.212000	0.43366	0.558000	0.71614	CCC		0.592	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			48	538	0	0	0	1	0	48	538					T	28943379	C	T	28943379	3	4	79	1	0	0	0	0	1	0	0	0	2982	739	26	2	60	2	CD19	16	28943379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23339	28943379	61411374	16178	26495											
SPNS1	83985	broad.mit.edu	37	chr16	28995106	28995106	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgtctcctctccctgcaGatctctgaccgcctgcgccg	8	19	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000323081.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000354453.4_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.e11-1		spinster homolog 1 (Drosophila)							53	58	56					16																	28995106		2196	4300	6496	SO:0001630	splice_region_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995106G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1321-1G>A	16.37:g.28995106G>A						SPNS1_ENST00000352260.7_Splice_Site|SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000334536.8_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Splice_Site		NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			11	1697	+								B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Splice_Site	SNP	ENST00000311008.11	37		CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532887	0.64972	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPNS1	28902607	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.118000	0.71583	2.308000	0.77769	0.555000	0.69702	.		0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038	Intron	99	506	0	0	0	1	0	99	506					A	28995106	G	A	28995106	5	1	79	1	0	0	0	0	0	0	1	0	15126	956	33	2	1362	2	SPNS1	16	28995106	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	28995106	61359647	16179	26496											
SPNS1	83985	broad.mit.edu	37	chr16	28995175	28995175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggctctgcagttctcGctcatgctctgcgcgtttgt	11	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000323081.8_Silent_p.S390S|SPNS1_ENST00000352260.7_Silent_p.S389S|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000354453.4_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Silent_p.S411S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	463					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1387-1389)tcG>tcA		spinster homolog 1 (Drosophila)							59	63	62					16																	28995175		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995175G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1389G>A	16.37:g.28995175G>A						SPNS1_ENST00000352260.7_Silent_p.S389S|SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000334536.8_Silent_p.S411S|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Silent_p.S390S	p.S463S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			11	1766	+			463					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1389G>A	CCDS10646.1																																																																																				0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		118	563	0	0	0	1	0	118	563					A	28995175	G	A	28995175	2	1	79	1	0	0	0	0	0	0	0	1	15126	1074	38	1		1	SPNS1	16	28995175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	28995175	61359578	16180	26497											
C16orf54	283897	broad.mit.edu	37	chr16	29755643	29755643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacgcttccagaaagctgaGatctgctccaaggtgacccg	10	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	210						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672																																						ENST00000329410.3																			0				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(628-630)atC>atT		chromosome 16 open reading frame 54							15	17	16					16																	29755643		2090	4165	6255	SO:0001819	synonymous_variant	283897					integral to membrane		g.chr16:29755643G>A	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.630C>T	16.37:g.29755643G>A							p.I210I	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN			2	725	-			210					A6NJR6|Q8NAB0	Silent	SNP	ENST00000329410.3	37	c.630C>T	CCDS10652.1																																																																																				0.672	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		20	131	0	0	0	1	0	20	131					A	29755643	G	A	29755643	2	1	79	1	0	0	0	0	0	0	0	1	1824	932	33	2		2	C16orf54	16	29755643	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	760468	29755643	60599110	16181	26498											
KIF22	3835	broad.mit.edu	37	chr16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctatgcaggttcagtgCagcccatcctaaggcacttg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000160827.4	+	3	365	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	109	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(121-123)Cag>Tag		kinesin family member 22							141	123	129					16																	29809753		2197	4300	6497	SO:0001587	stop_gained	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29809753C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.325C>T	16.37:g.29809753C>T	ENSP00000160827:p.Gln109*					KIF22_ENST00000160827.4_Nonsense_Mutation_p.Q109*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*	p.Q41*	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			3	758	+			109			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Nonsense_Mutation	SNP	ENST00000160827.4	37	c.121C>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235056	0.98719	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.1845	0.48648	0.0:0.917:0.0:0.083	.	.	.	.	X	109;41	.	ENSP00000160827:Q109X	Q	+	1	0	KIF22	29717254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.819000	0.97034	0.655000	0.94253	CAG		0.517	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			92	379	0	0	0	1	0	92	379					T	29809753	C	T	29809753	4	4	79	1	0	0	0	0	0	1	0	0	8320	711	25	2	335	2	KIF22	16	29809753	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54110	29809753	60545000	16182	26499											
KIF22	3835	broad.mit.edu	37	chr16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaatccgagaagactgcCgggggaatatcctgattccg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000160827.4	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(400-402)Cgg>Tgg		kinesin family member 22							92	99	97					16																	29810350		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810350C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.604C>T	16.37:g.29810350C>T	ENSP00000160827:p.Arg202Trp					KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	p.R134W	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			5	1037	+			202			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.400C>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	KIF22	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG		0.547	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			96	610	0	0	0	1	0	96	610					T	29810350	C	T	29810350	3	4	79	1	0	0	0	0	1	0	0	0	8320	643	23	1	622	1	KIF22	16	29810350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	29810350	60544403	16183	26500											
PRRT2	112476	broad.mit.edu	37	chr16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagagcctgctccccaaccaGacccccggccagattcccag	8	20	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000358758.7	+	2	710	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.D143Y|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	143	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(427-429)Gac>Tac		proline-rich transmembrane protein 2							34	39	37					16																	29824802		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824802G>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.427G>T	16.37:g.29824802G>T	ENSP00000351608:p.Asp143Tyr					AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000358758.7_Missense_Mutation_p.D143Y|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y	p.D143Y			Q7Z6L0	PRRT2_HUMAN			2	601	+			143			Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.427G>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221955	0.39300	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.72051	-0.62;0.25	3.97	3.97	0.46021	.	0.778179	0.11447	N	0.563121	T	0.72415	0.3457	L	0.27053	0.805	0.34795	D	0.736158	D;D;D	0.76494	0.999;0.992;0.995	P;P;P	0.61003	0.882;0.67;0.823	T	0.76870	-0.2799	10	0.72032	D	0.01	-3.8345	11.7683	0.51943	0.0:0.0:1.0:0.0	.	143;143;143	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	143	ENSP00000351608:D143Y;ENSP00000300797:D143Y	ENSP00000300797:D143Y	D	+	1	0	PRRT2	29732303	0.195000	0.23338	0.993000	0.49108	0.575000	0.36095	1.338000	0.33873	2.242000	0.73789	0.563000	0.77884	GAC		0.632	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		76	227	1	0	7.25294e-45	1	8.88171e-45	76	227					T	29824802	G	T	29824802	3	4	79	1	0	0	0	0	1	0	0	0	12657	942	33	3	429	3	PRRT2	16	29824802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14452	29824802	60529951	16184	26501											
MVP	9961	broad.mit.edu	37	chr16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacagggcaagttcggcttCgccacgctgacctcgagatc	11	14	1	2	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	84					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(250-252)Cgc>Tgc		major vault protein		C	CYS/ARG,CYS/ARG	0,4394		0,0,2197	92	68	76		250,250	5.5	1	16	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	180,180	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	84/894,84/894	29842323	2,12992	2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29842323C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.250C>T	16.37:g.29842323C>T	ENSP00000349977:p.Arg84Cys					MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	p.R84C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			3	388	+			84					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.250C>T	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181939	0.78677	0.0	2.33E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35605	1.3;1.3	5.46	5.46	0.80206	.	0.156352	0.56097	D	0.000023	T	0.59959	0.2232	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.65142	-0.6240	10	0.87932	D	0	-20.0859	11.8372	0.52333	0.1749:0.8251:0.0:0.0	.	84	Q14764	MVP_HUMAN	C	84	ENSP00000349977:R84C;ENSP00000378760:R84C	ENSP00000349977:R84C	R	+	1	0	MVP	29749824	0.932000	0.31603	1.000000	0.80357	0.987000	0.75469	1.701000	0.37825	2.576000	0.86940	0.561000	0.74099	CGC		0.632	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		44	175	0	0	0	1	0	44	175					T	29842323	C	T	29842323	3	4	79	1	0	0	0	0	1	0	0	0	10037	884	31	1	256	1	MVP	16	29842323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17521	29842323	60512430	16185	26502											
MVP	9961	broad.mit.edu	37	chr16	29853245	29853245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctctgcagcgtggtcttCgggcctgagctggtgtcgct	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	482					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1444-1446)ttC>ttT		major vault protein							40	44	42					16																	29853245		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853245C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1446C>T	16.37:g.29853245C>T						MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	p.F482F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			10	1584	+			482					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1446C>T	CCDS10656.1																																																																																				0.677	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		50	203	0	0	0	1	0	50	203					T	29853245	C	T	29853245	2	4	79	1	0	0	0	0	0	0	0	1	10037	883	31	1		1	MVP	16	29853245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10922	29853245	60501508	16186	26503											
CDIPT	10423	broad.mit.edu	37	chr16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcacttcttcttggcgCggtctgctgcgtccagggca	13	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000219789.6	-	6	1504	c.626G>A	c.(625-627)cGc>cAc	p.R209H	CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	209					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667																																						ENST00000219789.6																			0				endometrium(1)|lung(3)	4						c.(625-627)cGc>cAc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							26	25	25					16																	29870526		2195	4290	6485	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29870526C>T	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"phosphatidylinositol synthase"	605893	"CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.626G>A	16.37:g.29870526C>T	ENSP00000219789:p.Arg209His					CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H	p.R209H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN			6	1504	-			209					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.626G>A	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712574	0.96830	.	.	ENSG00000103502	ENST00000219789	T	0.51574	0.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.72130	-0.4383	10	0.56958	D	0.05	-5.9296	17.2093	0.86926	0.0:1.0:0.0:0.0	.	164;209;233	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	H	209	ENSP00000219789:R209H	ENSP00000219789:R209H	R	-	2	0	CDIPT	29778027	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	6.382000	0.73167	2.664000	0.90586	0.655000	0.94253	CGC		0.667	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		12	41	0	0	0	1	0	12	41					T	29870526	C	T	29870526	3	4	79	1	0	0	0	0	1	0	0	0	3132	768	27	1	19	1	CDIPT	16	29870526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17281	29870526	60484227	16187	26504											
CDIPT	10423	broad.mit.edu	37	chr16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgatgaggttgggcacgAacaggaagatattttcgtct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000219789.6	-	1	904	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000561555.1_5'Flank|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	9					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						GTTGGGCACGAACAGGAAGAT	0.697																																						ENST00000219789.6																			0				endometrium(1)|lung(3)	4						c.(25-27)tTc>tGc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							101	103	102					16																	29874153		2197	4300	6497	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29874153A>C	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"phosphatidylinositol synthase"	605893	"CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.26T>G	16.37:g.29874153A>C	ENSP00000219789:p.Phe9Cys					CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C	p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN			1	904	-			9					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.26T>G	CCDS10657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512933|3.512933	0.64522|0.64522	.|.	.|.	ENSG00000103502|ENSG00000103502	ENST00000219789|ENST00000403894	T|.	0.48201|.	0.82|.	5.24|5.24	4.13|4.13	0.48395|0.48395	.|.	0.049082|.	0.85682|.	N|.	0.000000|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.85099|0.85099	2.735|2.735	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.997|.	T|T	0.75513|0.75513	-0.3291|-0.3291	10|6	0.87932|0.46703	D|T	0|0.11	-14.366|-14.366	10.7309|10.7309	0.46096|0.46096	0.8398:0.1602:0.0:0.0|0.8398:0.1602:0.0:0.0	.|.	9;9|.	B4DUV0;O14735|.	.;CDIPT_HUMAN|.	C|A	9|31	ENSP00000219789:F9C|.	ENSP00000219789:F9C|ENSP00000386065:S31A	F|S	-|-	2|1	0|0	CDIPT|CDIPT	29781654|29781654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	5.039000|5.039000	0.64185|0.64185	0.914000|0.914000	0.36822|0.36822	-0.466000|-0.466000	0.05196|0.05196	TTC|TCG		0.697	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		158	784	0	0	0	1	0	158	784					C	29874153	A	C	29874153	3	2	79	1	0	0	0	0	1	0	0	0	3132	246	9	4	639	4	CDIPT	16	29874153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3627	29874153	60480600	16188	26505											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactggcaagtgagaatgtCggagcctagcagctcgtagc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	682	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2044-2046)Gac>Aac		seizure related 6 homolog (mouse)-like 2							20	20	20					16																	29888137		2194	4299	6493	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888137C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2044G>A	16.37:g.29888137C>T	ENSP00000312550:p.Asp682Asn					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N	p.D682N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			12	2571	-			682			Sushi 3.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2044G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234224	0.79688	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	4.62	0.57501	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;P	0.89917	0.027;0.101;0.385;1.0;1.0;0.487	B;B;B;D;D;B	0.91635	0.008;0.025;0.07;0.999;0.998;0.062	T	0.68804	-0.5312	10	0.44086	T	0.13	.	13.6591	0.62357	0.0:0.9238:0.0:0.0762	.	638;682;568;612;682;612	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	612;682;568;638	ENSP00000310206:D612N;ENSP00000312550:D682N;ENSP00000319215:D568N;ENSP00000439412:D638N	ENSP00000312550:D682N	D	-	1	0	SEZ6L2	29795638	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.658000	0.61497	1.350000	0.45770	0.655000	0.94253	GAC		0.701	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	79	0	0	0	1	0	14	79					T	29888137	C	T	29888137	3	4	79	1	0	0	0	0	1	0	0	0	14194	884	31	1	755	1	SEZ6L2	16	29888137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13984	29888137	60466616	16189	26506											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgtgggatccacacattCgatggcattggggggcccag	14	10	1	0	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	507	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0					ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1519-1521)Gaa>Aaa		seizure related 6 homolog (mouse)-like 2		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	147	144	145		1309,1177,1309,1519	5.3	1	16	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	56,56,56,56	0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/841,393/810,437/854,507/911	29891239	2,12992	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891239C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1519G>A	16.37:g.29891239C>T	ENSP00000312550:p.Glu507Lys					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K	p.E507K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			9	2046	-			507			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1519G>A	CCDS10659.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.8	5.039132	0.93630	2.28E-4	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.105878	0.41823	D	0.000808	T	0.74642	0.3743	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;P	0.63880	0.993;0.96;0.824;0.951;0.96;0.951	P;B;B;B;B;B	0.61201	0.885;0.348;0.278;0.236;0.348;0.236	T	0.72865	-0.4163	10	0.39692	T	0.17	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	463;507;393;437;507;437	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	K	437;507;393;463	ENSP00000310206:E437K;ENSP00000312550:E507K;ENSP00000319215:E393K;ENSP00000439412:E463K	ENSP00000312550:E507K	E	-	1	0	SEZ6L2	29798740	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.505000	0.60421	2.735000	0.93741	0.655000	0.94253	GAA		0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		222	938	0	0	0	1	0	222	938					T	29891239	C	T	29891239	3	4	79	1	0	0	0	0	1	0	0	0	14194	893	31	1	1292	1	SEZ6L2	16	29891239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3102	29891239	60463514	16190	26507											
TAOK2	9344	broad.mit.edu	37	chr16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgaaggacccagatgTggctgagctcttcttcaagg	13	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A|TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	15					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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(43-45)gTg>gCg		TAO kinase 2							42	46	45					16																	29989137		2197	4300	6497	SO:0001583	missense	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.chr16:29989137T>C	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.44T>C	16.37:g.29989137T>C	ENSP00000310094:p.Val15Ala					TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A	p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1087	+			15					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.44T>C	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900361	0.72754	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.49;-0.55	5.35	5.35	0.76521	.	0.064535	0.64402	D	0.000011	T	0.66799	0.2826	L	0.34521	1.04	0.80722	D	1	P;B;B;P	0.37038	0.579;0.169;0.105;0.579	B;B;B;P	0.44811	0.361;0.241;0.121;0.461	T	0.64343	-0.6430	9	.	.	.	.	14.6093	0.68504	0.0:0.0:0.0:1.0	.	199;15;15;15	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	A	15	ENSP00000310094:V15A;ENSP00000440336:V15A;ENSP00000279394:V15A	.	V	+	2	0	TAOK2	29896638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.155000	0.67459	0.533000	0.62120	GTG		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		73	304	0	0	0	1	0	73	304					C	29989137	T	C	29989137	3	2	79	1	0	0	0	0	1	0	0	0	15600	1696	59	4	46	4	TAOK2	16	29989137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97898	29989137	60365616	16191	26508											
TAOK2	9344	broad.mit.edu	37	chr16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagttccagcagcacatcCttgggcagcagaagaaggag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	569					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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCACATCCTTGGGCAGCA	0.622																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1705-1707)Ctt>Att		TAO kinase 2							26	22	23					16																	29996816		2197	4296	6493	SO:0001583	missense	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.chr16:29996816C>A	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.1705C>A	16.37:g.29996816C>A	ENSP00000310094:p.Leu569Ile					TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I	p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2748	+			569					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1705C>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418553	0.62622	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.44083	0.93;0.93;0.93	5.27	2.91	0.33838	.	0.000000	0.64402	D	0.000002	T	0.52386	0.1731	L	0.50333	1.59	0.44547	D	0.997506	D;D;P;P;D	0.76494	0.996;0.999;0.713;0.764;0.983	P;D;P;B;P	0.68483	0.824;0.958;0.614;0.345;0.771	T	0.48801	-0.9003	9	.	.	.	.	9.9385	0.41565	0.0:0.7575:0.0:0.2425	.	760;396;569;569;569	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	569	ENSP00000310094:L569I;ENSP00000440336:L569I;ENSP00000279394:L569I	.	L	+	1	0	TAOK2	29904317	0.079000	0.21365	0.977000	0.42913	0.769000	0.43574	1.207000	0.32333	1.193000	0.43086	0.563000	0.77884	CTT		0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		37	146	1	0	2.28855e-06	1	2.35735e-06	37	146					A	29996816	C	A	29996816	3	1	79	1	0	0	0	0	1	0	0	0	15600	681	24	3	1755	3	TAOK2	16	29996816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7679	29996816	60357937	16192	26509											
TAOK2	9344	broad.mit.edu	37	chr16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggatgagagtcttctgGatgaggagtttgagcttggc	17	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	882	Glu-rich.				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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2644-2646)Gat>Aat		TAO kinase 2							88	87	87					16																	29998237		2197	4300	6497	SO:0001583	missense	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.chr16:29998237G>A	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.2644G>A	16.37:g.29998237G>A	ENSP00000310094:p.Asp882Asn					TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N|TAOK2_ENST00000279394.3_Intron	p.D882N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3687	+			882			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2644G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481917	0.44147	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73152	-0.67;-0.72	5.32	4.37	0.52481	.	1.132340	0.06700	N	0.771279	T	0.51550	0.1681	N	0.08118	0	0.25522	N	0.987355	B;B;B	0.27498	0.18;0.0;0.18	B;B;B	0.21546	0.035;0.002;0.035	T	0.36578	-0.9742	9	.	.	.	.	11.0008	0.47604	0.0882:0.0:0.9118:0.0	.	1073;709;882	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	N	882;769	ENSP00000310094:D882N;ENSP00000440336:D769N	.	D	+	1	0	TAOK2	29905738	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	3.753000	0.55180	1.258000	0.44101	0.563000	0.77884	GAT		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		69	241	0	0	0	1	0	69	241					A	29998237	G	A	29998237	3	1	79	1	0	0	0	0	1	0	0	0	15600	1174	41	2	2702	2	TAOK2	16	29998237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1421	29998237	60356516	16193	26510											
TAOK2	9344	broad.mit.edu	37	chr16	29999166	29999166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcggggtgaacggccCacccgaatcccccggctact	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000416441.2_Silent_p.P1018P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1191					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)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3571-3573)ccC>ccT		TAO kinase 2							18	17	17					16																	29999166		2195	4294	6489	SO:0001819	synonymous_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.chr16:29999166C>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.3573C>T	16.37:g.29999166C>T						TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000416441.2_Silent_p.P1018P|TAOK2_ENST00000279394.3_Intron	p.P1191P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4616	+			1191					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3573C>T	CCDS10663.1																																																																																				0.706	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		30	137	0	0	0	1	0	30	137					T	29999166	C	T	29999166	2	4	79	1	0	0	0	0	0	0	0	1	15600	581	21	2		2	TAOK2	16	29999166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	929	29999166	60355587	16194	26511											
HIRIP3	8479	broad.mit.edu	37	chr16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatctgagtccagggTccgtcggtacagctcccctg	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	527					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(1579-1581)Acc>Gcc		HIRA interacting protein 3							59	63	62					16																	30004620		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004620T>C	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1579A>G	16.37:g.30004620T>C	ENSP00000279392:p.Thr527Ala					HIRIP3_ENST00000564026.1_3'UTR	p.T527A	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			7	2409	-			527					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.1579A>G	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	1.242	-0.621104	0.03636	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.28666	1.6	5.02	1.46	0.22682	.	0.562321	0.17672	N	0.165940	T	0.13713	0.0332	N	0.12182	0.205	0.19945	N	0.999941	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	10	0.29301	T	0.29	-4.3486	4.1826	0.10383	0.0:0.266:0.1701:0.5639	.	527	Q9BW71	HIRP3_HUMAN	A	527;214	ENSP00000279392:T527A	ENSP00000279392:T527A	T	-	1	0	HIRIP3	29912121	0.985000	0.35326	0.137000	0.22149	0.015000	0.08874	0.925000	0.28791	0.058000	0.16222	-0.256000	0.11100	ACC		0.612	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		71	271	0	0	0	1	0	71	271					C	30004620	T	C	30004620	3	2	79	1	0	0	0	0	1	0	0	0	7151	1667	58	4	95	4	HIRIP3	16	30004620	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5454	30004620	60350133	16195	26512											
INO80E	283899	broad.mit.edu	37	chr16	30007925	30007925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaattactgaaggtgTcccgggacaagaggtgaggc	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	ENST00000563197.1	+	2	1156	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000279392.3_5'Flank|HIRIP3_ENST00000564026.1_5'Flank	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	47					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACTGAAGGTGTCCCGGGACAA	0.597																																						ENST00000563197.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(139-141)Tcc>Ccc		INO80 complex subunit E							57	47	50					16																	30007925		2194	4298	6492	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007925T>C	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"INO80 complex subunits"	26905	protein-coding gene	gene with protein product			"coiled-coil domain containing 95"	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.139T>C	16.37:g.30007925T>C	ENSP00000457016:p.Ser47Pro					INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR	p.S47P	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN			2	1156	+			47					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.139T>C	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	T	34	5.394629	0.96009	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64170	1.965	0.58432	D	0.999998	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.71184	0.959;0.972;0.959	T	0.78344	-0.2240	9	0.87932	D	0	-17.7738	13.6838	0.62504	0.0:0.0:0.0:1.0	.	71;47;47	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	P	47;71;47	.	ENSP00000303977:S47P	S	+	1	0	INO80E	29915426	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.974000	0.70465	2.125000	0.65367	0.533000	0.62120	TCC		0.597	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		7	45	0	0	0	1	0	7	45					C	30007925	T	C	30007925	3	2	79	1	0	0	0	0	1	0	0	0	7780	1667	58	4	145	4	INO80E	16	30007925	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3305	30007925	60346828	16196	26513											
DOC2A	8448	broad.mit.edu	37	chr16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagggctgcagggggggCcagagccagggggaccagat	21	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T|DOC2A_ENST00000567824.1_5'Flank	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	62	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(184-186)Gcc>Acc		double C2-like domains, alpha							16	18	17					16																	30021360		2171	4232	6403	SO:0001583	missense	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021360C>T	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.184G>A	16.37:g.30021360C>T	ENSP00000340017:p.Ala62Thr					DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T	p.A62T	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN			2	374	-			62			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	c.184G>A	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592566	0.46214	.	.	ENSG00000149927	ENST00000350119	T	0.62364	0.03	4.23	3.2	0.36748	.	0.200290	0.24791	N	0.035562	T	0.36663	0.0975	N	0.14661	0.345	0.28953	N	0.890294	B	0.06786	0.001	B	0.04013	0.001	T	0.13548	-1.0505	10	0.13108	T	0.6	.	6.3465	0.21353	0.2189:0.5965:0.1846:0.0	.	62	Q14183	DOC2A_HUMAN	T	62	ENSP00000340017:A62T	ENSP00000340017:A62T	A	-	1	0	DOC2A	29928861	0.148000	0.22702	1.000000	0.80357	0.985000	0.73830	0.291000	0.18994	2.203000	0.70933	0.561000	0.74099	GCC		0.706	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		63	263	0	0	0	1	0	63	263					T	30021360	C	T	30021360	3	4	79	1	0	0	0	0	1	0	0	0	4699	739	26	2	1058	2	DOC2A	16	30021360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13435	30021360	60333393	16197	26514											
PPP4C	5531	broad.mit.edu	37	chr16	30094745	30094745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgcatcacactgatcCggggcaaccatgagagtcgc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	112					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(334-336)Cgg>Agg		protein phosphatase 4, catalytic subunit							98	94	96					16																	30094745		2197	4300	6497	SO:0001819	synonymous_variant	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094745C>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.334C>A	16.37:g.30094745C>A						PPP4C_ENST00000561610.1_Silent_p.R112R	p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			6	502	+			112					P33172	Silent	SNP	ENST00000279387.7	37	c.334C>A	CCDS10669.1																																																																																				0.607	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		81	459	1	0	1.21826e-31	1	1.43537e-31	81	459					A	30094745	C	A	30094745	2	1	79	1	0	0	0	0	0	0	0	1	12449	643	23	3		3	PPP4C	16	30094745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73385	30094745	60260008	16198	26515											
TBX6	6911	broad.mit.edu	37	chr16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggggtgaatgtagacacGgtcaggcaggcggggctctg	19	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000395224.2	-	4	570	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000553607.1_Missense_Mutation_p.R171C	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	171					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(511-513)Cgt>Tgt		T-box 6							60	62	61					16																	30100374		2197	4300	6497	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100374G>A	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.511C>T	16.37:g.30100374G>A	ENSP00000378650:p.Arg171Cys					TBX6_ENST00000395224.2_Missense_Mutation_p.R171C|TBX6_ENST00000279386.2_Missense_Mutation_p.R171C	p.R171C			O95947	TBX6_HUMAN			3	1204	-			171					Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.511C>T	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092673	0.76756	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90732	-2.72;-2.72;-2.72	5.8	5.8	0.92144	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.76938	2.355	0.80722	D	1	D;D	0.64830	0.994;0.973	P;B	0.55222	0.771;0.414	D	0.94483	0.7695	10	0.87932	D	0	.	18.8306	0.92137	0.0:0.0:1.0:0.0	.	171;171	O95947;Q9HA44	TBX6_HUMAN;.	C	171	ENSP00000378650:R171C;ENSP00000279386:R171C;ENSP00000461223:R171C	ENSP00000279386:R171C	R	-	1	0	TBX6	30007875	1.000000	0.71417	0.987000	0.45799	0.596000	0.36781	6.172000	0.71932	2.747000	0.94245	0.462000	0.41574	CGT		0.632	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		119	556	0	0	0	1	0	119	556					A	30100374	G	A	30100374	3	1	79	1	0	0	0	0	1	0	0	0	15714	1116	39	1	823	1	TBX6	16	30100374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5629	30100374	60254379	16199	26516											
GDPD3	79153	broad.mit.edu	37	chr16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacttaggaggtccgggcaGctggtccatggttgtccagg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D	RP11-455F5.4_ENST00000566190.1_RNA|RP11-455F5.3_ENST00000515455.2_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	314					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(940-942)gCt>gAt		glycerophosphodiester phosphodiesterase domain containing 3							81	82	82					16																	30116209		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30116209G>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.941C>A	16.37:g.30116209G>T	ENSP00000384363:p.Ala314Asp						p.A314D	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			10	1318	-			314					Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.941C>A	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487391	0.26686	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	4.13	-0.602	0.11634	.	1.727610	0.04224	N	0.334052	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	9	0.12430	T	0.62	.	3.0282	0.06098	0.1015:0.3404:0.395:0.1631	.	314	Q7L5L3	GDPD3_HUMAN	D	314;252	.	ENSP00000353909:A252D	A	-	2	0	GDPD3	30023710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-0.142000	0.11354	0.561000	0.74099	GCT		0.532	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		61	251	1	0	2.81305e-35	1	3.35631e-35	61	251					T	30116209	G	T	30116209	3	4	79	1	0	0	0	0	1	0	0	0	6354	971	34	3	19	3	GDPD3	16	30116209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15835	30116209	60238544	16200	26517											
TBC1D10B	26000	broad.mit.edu	37	chr16	30370680	30370680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtccagctgaatggcCtcctgcaggtgggacaagcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	ENST00000409939.3	-	7	1535	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	485	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCTGAATGGCCTCCTGCAGGT	0.667																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1453-1455)gaG>gaT		TBC1 domain family, member 10B							12	12	12					16																	30370680		2186	4255	6441	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30370680C>A	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1455G>T	16.37:g.30370680C>A	ENSP00000386538:p.Glu485Asp						p.E485D	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		7	1535	-			485			Rab-GAP TBC.		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1455G>T	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342328	0.41498	.	.	ENSG00000169221	ENST00000409939	T	0.12147	2.71	5.31	2.27	0.28462	Rab-GAP/TBC domain (5);	0.000000	0.64402	D	0.000001	T	0.25901	0.0631	M	0.76433	2.335	0.50632	D	0.999888	P	0.50710	0.938	P	0.54664	0.758	T	0.00904	-1.1520	10	0.59425	D	0.04	.	7.8216	0.29290	0.0:0.5928:0.0:0.4072	.	485	Q4KMP7	TB10B_HUMAN	D	485	ENSP00000386538:E485D	ENSP00000386538:E485D	E	-	3	2	TBC1D10B	30278181	0.993000	0.37304	1.000000	0.80357	0.541000	0.35023	0.420000	0.21263	0.243000	0.21327	0.462000	0.41574	GAG		0.667	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		11	32	1	0	0.00829132	1	0.00834067	11	32					A	30370680	C	A	30370680	3	1	79	1	0	0	0	0	1	0	0	0	15651	680	24	3	983	3	TBC1D10B	16	30370680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254471	30370680	59984073	16201	26518											
SEPT1	1731	broad.mit.edu	37	chr16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcccggaggaaggccacatCtaggggccggagcctgcacc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000571393.1	-	7	640	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000321367.3_Missense_Mutation_p.D199Y			Q8WYJ6	SEPT1_HUMAN	septin 1	152	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632																																						ENST00000321367.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24						c.(595-597)Gat>Tat		septin 1							93	89	90					16																	30392552		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392552C>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.454G>T	16.37:g.30392552C>A	ENSP00000460441:p.Asp152Tyr					SEPT1_ENST00000571393.1_Missense_Mutation_p.D152Y|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y	p.D199Y	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		7	640	-			152					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.595G>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.748985	0.69533	.	.	ENSG00000180096	ENST00000321367	.	.	.	6.07	6.07	0.98685	.	0.175497	0.39909	N	0.001224	D	0.90256	0.6953	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92568	0.6064	9	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	152	Q8WYJ6	SEPT1_HUMAN	Y	152	.	ENSP00000324511:D152Y	D	-	1	0	SEPT1	30300053	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.783000	0.85696	2.884000	0.98904	0.655000	0.94253	GAT		0.632	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		113	385	1	0	1.00382e-66	1	1.27077e-66	113	385					A	30392552	C	A	30392552	3	1	79	1	0	0	0	0	1	0	0	0	14109	913	32	3	673	3	SEPT1	16	30392552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21872	30392552	59962201	16202	26519											
ITGAL	3683	broad.mit.edu	37	chr16	30518143	30518143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacctgcacttcccccCgggactctccttccgcaagg	10	18	1	0	rs143575422	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30518143C>T	ENST00000356798.6	+	21	2654	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACTTCCCCCCGGGACTCTCC	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2473-2475)cCg>cTg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)		LEU/PRO,LEU/PRO	0,4394		0,0,2197	126	124	125		2222,2474	-5.8	0.1	16	dbSNP_134	125	2,8598		0,2,4298	yes	missense,missense	ITGAL	NM_001114380.1,NM_002209.2	98,98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	741/1087,825/1171	30518143	2,12992	2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518143C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2474C>T	16.37:g.30518143C>T	ENSP00000349252:p.Pro825Leu					ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L|ITGAL_ENST00000433423.2_Intron	p.P825L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2654	+			825					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2474C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.643851	0.29246	0.0	2.33E-4	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48201	0.82;0.82	5.2	-5.8	0.02347	Integrin alpha-2 (1);	1.128570	0.06770	N	0.783345	T	0.25791	0.0628	N	0.14661	0.345	0.25392	N	0.988517	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.20706	-1.0267	10	0.28530	T	0.3	.	8.5299	0.33329	0.6441:0.2243:0.1316:0.0	.	741;825	Q96HB1;P20701	.;ITAL_HUMAN	L	825;741	ENSP00000349252:P825L;ENSP00000350886:P741L	ENSP00000349252:P825L	P	+	2	0	ITGAL	30425644	0.000000	0.05858	0.088000	0.20740	0.100000	0.18952	-4.060000	0.00303	-1.283000	0.02393	-2.054000	0.00404	CCG		0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			16	1134	0	0	0	1	0	16	1134					T	30518143	C	T	30518143	3	4	79	1	0	0	0	0	1	0	0	0	7916	652	23	1	2556	1	ITGAL	16	30518143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125591	30518143	59836610	16203	26520											
ZNF768	79724	broad.mit.edu	37	chr16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgtgggtgcgctggtgtCgcaggaggtaggagctgtcg	21	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	362					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCGCTGGTGTCGCAGGAGGTA	0.632																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1084-1086)cGa>cAa		zinc finger protein 768							43	44	44					16																	30536376		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536376C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1085G>A	16.37:g.30536376C>T	ENSP00000369777:p.Arg362Gln					ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	p.R362Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	1260	-			362					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1085G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205440	0.39003	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002285	T	0.03564	0.0102	L	0.28458	0.855	0.28164	N	0.928832	P	0.40360	0.714	B	0.29176	0.099	T	0.23190	-1.0195	10	0.02654	T	1	-7.1639	5.7035	0.17895	0.1955:0.7065:0.0:0.098	.	362	Q9H5H4	ZN768_HUMAN	Q	362;275	ENSP00000369777:R362Q	ENSP00000369777:R362Q	R	-	2	0	ZNF768	30443877	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-1.355000	0.02612	2.384000	0.81235	0.205000	0.17691	CGA		0.632	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		9	252	0	0	0	1	0	9	252					T	30536376	C	T	30536376	3	4	79	1	0	0	0	0	1	0	0	0	18194	884	31	1	541	1	ZNF768	16	30536376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18233	30536376	59818377	16204	26521											
ZNF768	79724	broad.mit.edu	37	chr16	30536780	30536780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaagcatctcaaactgCggtgtagacagcagggcccc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536780C>T	ENST00000380412.5	-	2	856	c.681G>A	c.(679-681)ccG>ccA	p.P227P	ZNF768_ENST00000562803.1_Silent_p.P196P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	227					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTCAAACTGCGGTGTAGACA	0.662																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(679-681)ccG>ccA		zinc finger protein 768							60	64	63					16																	30536780		2197	4299	6496	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536780C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.681G>A	16.37:g.30536780C>T						ZNF768_ENST00000562803.1_Silent_p.P196P	p.P227P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	856	-			227					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.681G>A	CCDS10681.2																																																																																				0.662	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		14	647	0	0	0	1	0	14	647					T	30536780	C	T	30536780	2	4	79	1	0	0	0	0	0	0	0	1	18194	755	27	1		1	ZNF768	16	30536780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404	30536780	59817973	16205	26522											
ZNF768	79724	broad.mit.edu	37	chr16	30536921	30536921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaggactcttttcctcGgggttcagaagcatctccgc	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536921G>A	ENST00000380412.5	-	2	715	c.540C>T	c.(538-540)ccC>ccT	p.P180P	ZNF768_ENST00000562803.1_Silent_p.P149P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	180					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P180P(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTTTCCTCGGGGTTCAGAA	0.522																																						ENST00000380412.5																			2	Substitution - coding silent(2)	p.P180P(2)	lung(1)|kidney(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(538-540)ccC>ccT		zinc finger protein 768							110	117	114					16																	30536921		2197	4300	6497	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536921G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.540C>T	16.37:g.30536921G>A						ZNF768_ENST00000562803.1_Silent_p.P149P	p.P180P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	715	-			180					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.540C>T	CCDS10681.2																																																																																				0.522	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		16	937	0	0	0	1	0	16	937					A	30536921	G	A	30536921	2	1	79	1	0	0	0	0	0	0	0	1	18194	1103	39	1		1	ZNF768	16	30536921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	30536921	59817832	16206	26523											
ZNF768	79724	broad.mit.edu	37	chr16	30537047	30537047	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagattcatagccagggctCcggggttcatacccggggct	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(412-414)cgG>cgA		zinc finger protein 768							55	60	58					16																	30537047		2197	4300	6497	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537047C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.414G>A	16.37:g.30537047C>T						ZNF768_ENST00000562803.1_Silent_p.R107R	p.R138R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	589	-			138			Pro-rich.		Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.414G>A	CCDS10681.2																																																																																				0.507	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		120	493	0	0	0	1	0	120	493					T	30537047	C	T	30537047	2	4	79	1	0	0	0	0	0	0	0	1	18194	842	30	2		2	ZNF768	16	30537047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	30537047	59817706	16207	26524											
ZNF764	92595	broad.mit.edu	37	chr16	30567266	30567266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcacagagggaggggCgtccccggtgcggtgccttg	21	10	0	1	rs142253089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567266C>T	ENST00000252797.2	-	3	556	c.476G>A	c.(475-477)cGc>cAc	p.R159H	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.R158H	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGAGGGGCGTCCCCGGTG	0.701																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(472-474)cGc>cAc		zinc finger protein 764		C	HIS/ARG,HIS/ARG	0,4394		0,0,2197	17	20	19		473,476	2.9	0.1	16	dbSNP_134	19	1,8597		0,1,4298	no	missense,missense	ZNF764	NM_001172679.1,NM_033410.3	29,29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	158/408,159/409	30567266	1,12991	2197	4299	6496	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567266C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.476G>A	16.37:g.30567266C>T	ENSP00000252797:p.Arg159His					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R159H	p.R158H			Q96H86	ZN764_HUMAN			3	788	-			159					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.473G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816078	0.32145	0.0	1.16E-4	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.06528	3.29;3.29	4.94	2.93	0.34026	.	0.190029	0.26156	N	0.026001	T	0.04998	0.0134	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.09377	0.004;0.002	T	0.32666	-0.9898	10	0.36615	T	0.2	-19.5601	7.0727	0.25187	0.0:0.7855:0.0:0.2145	.	158;159	B3KSN2;Q96H86	.;ZN764_HUMAN	H	159;158	ENSP00000252797:R159H;ENSP00000378526:R158H	ENSP00000252797:R159H	R	-	2	0	ZNF764	30474767	.	.	0.147000	0.22382	0.026000	0.11368	.	.	1.270000	0.44297	0.563000	0.77884	CGC		0.701	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		7	170	0	0	0	1	0	7	170					T	30567266	C	T	30567266	3	4	79	1	0	0	0	0	1	0	0	0	18191	768	27	1	754	1	ZNF764	16	30567266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30219	30567266	59787487	16208	26525											
ZNF764	92595	broad.mit.edu	37	chr16	30567369	30567369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacccggcggccacagggtCgggcttctccagggctcccg	15	16	1	1	rs538592097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567369C>T	ENST00000252797.2	-	3	453	c.373G>A	c.(373-375)Gac>Aac	p.D125N	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.D124N	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCACAGGGTCGGGCTTCTCC	0.622																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(370-372)Gac>Aac		zinc finger protein 764							45	52	50					16																	30567369		2196	4300	6496	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567369C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.373G>A	16.37:g.30567369C>T	ENSP00000252797:p.Asp125Asn					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.D125N	p.D124N			Q96H86	ZN764_HUMAN			3	685	-			125					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.370G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669192	0.14776	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.05855	3.4;3.38	4.18	1.06	0.20224	.	0.992446	0.08162	N	0.988372	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.29671	0.254;0.0	B;B	0.17979	0.02;0.0	T	0.46992	-0.9151	10	0.22109	T	0.4	-0.8577	4.71	0.12868	0.199:0.1833:0.6177:0.0	.	124;125	B3KSN2;Q96H86	.;ZN764_HUMAN	N	125;124	ENSP00000252797:D125N;ENSP00000378526:D124N	ENSP00000252797:D125N	D	-	1	0	ZNF764	30474870	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.285000	0.22329	-0.256000	0.11100	GAC		0.622	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		90	372	0	0	0	1	0	90	372					T	30567369	C	T	30567369	3	4	79	1	0	0	0	0	1	0	0	0	18191	884	31	1	857	1	ZNF764	16	30567369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	30567369	59787384	16209	26526											
ZNF688	146542	broad.mit.edu	37	chr16	30581384	30581384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtggatccactggtgCgcttccactgcgaacttcct	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Silent_p.A214A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(682-684)gcG>gcA		zinc finger protein 688							13	15	14					16																	30581384		2188	4282	6470	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581384C>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.684G>A	16.37:g.30581384C>T						ZNF688_ENST00000395219.1_Silent_p.A214A	p.A228A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1788	-			228					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.684G>A	CCDS10684.1																																																																																				0.721	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		27	103	0	0	0	1	0	27	103					T	30581384	C	T	30581384	2	4	79	1	0	0	0	0	0	0	0	1	18146	755	27	1		1	ZNF688	16	30581384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	30581384	59773369	16210	26527											
ZNF785	146540	broad.mit.edu	37	chr16	30594073	30594073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttcccacactccacGcaggggaagggccggctgtc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1024-1026)tgC>tgT		zinc finger protein 785							50	55	53					16																	30594073		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594073G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1026C>T	16.37:g.30594073G>A						AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C	p.C342C	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1185	-			342					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.1026C>T	CCDS10685.1																																																																																				0.667	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		79	388	0	0	0	1	0	79	388					A	30594073	G	A	30594073	2	1	79	1	0	0	0	0	0	0	0	1	18210	1079	38	1		1	ZNF785	16	30594073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12689	30594073	59760680	16211	26528											
PRR14	78994	broad.mit.edu	37	chr16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttccctcgctaggcctcccGaccctctgtgtttgtgtcgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(322-324)Gac>Aac		proline rich 14							42	46	45					16																	30664242		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30664242G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.322G>A	16.37:g.30664242G>A	ENSP00000441641:p.Asp108Asn					PRR14_ENST00000300835.4_Missense_Mutation_p.D108N	p.D108N			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		4	778	+			108			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.322G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372918	0.24857	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61158	0.13;0.13	5.5	3.46	0.39613	.	0.325087	0.26116	N	0.026241	T	0.49898	0.1584	M	0.64997	1.995	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.48779	-0.9005	10	0.54805	T	0.06	-0.9373	5.4869	0.16755	0.1091:0.0:0.6967:0.1942	.	108	Q9BWN1	PRR14_HUMAN	N	81;108;108	ENSP00000300835:D108N;ENSP00000441641:D108N	ENSP00000287463:D81N	D	+	1	0	PRR14	30571743	0.859000	0.29813	0.010000	0.14722	0.110000	0.19582	2.079000	0.41577	0.587000	0.29643	0.585000	0.79938	GAC		0.652	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		69	272	0	0	0	1	0	69	272					A	30664242	G	A	30664242	3	1	79	1	0	0	0	0	1	0	0	0	12633	1058	37	1	336	1	PRR14	16	30664242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70169	30664242	59690511	16212	26529											
PRR14	78994	broad.mit.edu	37	chr16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatctcagaggccgagCagtctggggctgctgagggc	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	293	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGAGGCCGAGCAGTCTGGGGC	0.627																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(877-879)Cag>Tag		proline rich 14							36	39	38					16																	30666168		2197	4299	6496	SO:0001587	stop_gained	78994							g.chr16:30666168C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.877C>T	16.37:g.30666168C>T	ENSP00000441641:p.Gln293*					PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR	p.Q293*			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1333	+			293			Pro-rich.		Q8WTX2	Nonsense_Mutation	SNP	ENST00000542965.2	37	c.877C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361763	0.98235	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	5.75	3.56	0.40772	.	0.440563	0.20816	N	0.085141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.0254	9.3627	0.38206	0.142:0.6106:0.2474:0.0	.	.	.	.	X	266;293;293	.	ENSP00000287463:Q266X	Q	+	1	0	PRR14	30573669	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.508000	0.35769	2.716000	0.92895	0.643000	0.83706	CAG		0.627	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		13	329	0	0	0	1	0	13	329					T	30666168	C	T	30666168	4	4	79	1	0	0	0	0	0	1	0	0	12633	711	25	2	903	2	PRR14	16	30666168	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	30666168	59688585	16213	26530											
PRR14	78994	broad.mit.edu	37	chr16	30666368	30666368	+	Silent	SNP	G	G	A													caaccaagccgaccacggccGcggcggcacactgtgggtgg					rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481). {ECO:0000269|PubMed:15489334}.							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701													G|||	10	0.00199681	0.0076	0.0	5008	,	,		12043	0.0		0.0	False		,,,				2504	0.0					ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1075-1077)ccG>ccA		proline rich 14		G		16,4372		0,16,2178	24	30	28		1077	-10.4	0.8	16	dbSNP_134	28	0,8592		0,0,4296	no	coding-synonymous	PRR14	NM_024031.2		0,16,6474	AA,AG,GG		0.0,0.3646,0.1233		359/586	30666368	16,12964	2194	4296	6490	SO:0001819	synonymous_variant	78994							g.chr16:30666368G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1077G>A	16.37:g.30666368G>A						PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron	p.P359P			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1533	+			359		P -> L (in dbSNP:rs3747481).	Pro-rich.		Q8WTX2	Silent	SNP	ENST00000542965.2	37	c.1077G>A	CCDS10687.1																																																																																				0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		66	360	0	0	0	1	0	66	360					A	30666368	G	A	30666368	2	1	79	1	0	0	0	0	0	0	0	1	12633	1074	38	1		1	PRR14	16	30666368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	30666368	59688385	16214	26531	167	2									
PRR14	78994	broad.mit.edu	37	chr16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A													accaagccgaccacggccgcGgcggcacactgtgggtggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1078-1080)cGg>cAg		proline rich 14							24	30	28					16																	30666370		2192	4295	6487	SO:0001583	missense	78994							g.chr16:30666370G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1079G>A	16.37:g.30666370G>A	ENSP00000441641:p.Arg360Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron	p.R360Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1535	+			360			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1079G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	.	0.457720	0.20325	N	0.094558	T	0.67078	0.2855	M	0.67953	2.075	0.33381	D	0.574913	D	0.89917	1.0	D	0.83275	0.996	T	0.73594	-0.3933	10	0.42905	T	0.14	-12.9856	16.0349	0.80617	0.0:0.0:1.0:0.0	.	360	Q9BWN1	PRR14_HUMAN	Q	333;360;360	ENSP00000300835:R360Q;ENSP00000441641:R360Q	ENSP00000287463:R333Q	R	+	2	0	PRR14	30573871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.502000	0.66956	2.507000	0.84556	0.563000	0.77884	CGG		0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		88	339	0	0	0	1	0	88	339					A	30666370	G	A	30666370	3	1	79	1	0	0	0	0	1	0	0	0	12633	1116	39	1	1105	1	PRR14	16	30666370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	30666370	59688383	16215	26532	167	2									
PRR14	78994	broad.mit.edu	37	chr16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgggacagcagccttcctcGatcacgaagaccgtcccgtg	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q|FBRS_ENST00000356166.6_5'Flank			Q9BWN1	PRR14_HUMAN	proline rich 14	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1588-1590)cGa>cAa		proline rich 14							71	78	76					16																	30667463		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30667463G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1589G>A	16.37:g.30667463G>A	ENSP00000441641:p.Arg530Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q	p.R530Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	2045	+			530					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1589G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029849	0.75504	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.59906	0.23;0.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.68593	2.085	0.44110	D	0.996881	D	0.76494	0.999	D	0.68765	0.96	T	0.75468	-0.3307	10	0.87932	D	0	-7.6571	17.5606	0.87906	0.0:0.0:1.0:0.0	.	530	Q9BWN1	PRR14_HUMAN	Q	503;530;530	ENSP00000300835:R530Q;ENSP00000441641:R530Q	ENSP00000287463:R503Q	R	+	2	0	PRR14	30574964	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.874000	0.63064	2.890000	0.99128	0.650000	0.86243	CGA		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		63	615	0	0	0	1	0	63	615					A	30667463	G	A	30667463	3	1	79	1	0	0	0	0	1	0	0	0	12633	1058	37	1	1631	1	PRR14	16	30667463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	30667463	59687290	16216	26533											
FBRS	64319	broad.mit.edu	37	chr16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggccccaccagccttcGcctccccaccggacccatgg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000287468.5	+	11	915	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000356166.6_Missense_Mutation_p.A738T	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687																																						ENST00000356166.6																			0				ovary(1)	1						c.(2212-2214)Gcc>Acc		fibrosin							11	16	14					16																	30680146		2185	4283	6468	SO:0001583	missense	64319							g.chr16:30680146G>A	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.652G>A	16.37:g.30680146G>A	ENSP00000287468:p.Ala218Thr					FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000287468.5_Missense_Mutation_p.A218T|FBRS_ENST00000568722.1_Missense_Mutation_p.A130T	p.A738T			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		17	3300	+			218					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408585	0.42715	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32515	1.45	5.48	5.48	0.80851	.	0.166295	0.37715	N	0.001969	T	0.22859	0.0552	L	0.29908	0.895	0.29528	N	0.852992	B	0.26400	0.148	B	0.16722	0.016	T	0.10314	-1.0635	10	0.41790	T	0.15	-5.1837	13.0397	0.58891	0.0:0.2736:0.7264:0.0	.	218	Q9HAH7	FBRS_HUMAN	T	738;218;130	ENSP00000348489:A738T	ENSP00000287468:A218T	A	+	1	0	FBRS	30587647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.389000	0.44407	2.584000	0.87258	0.561000	0.74099	GCC		0.687	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		13	83	0	0	0	1	0	13	83					A	30680146	G	A	30680146	3	1	79	1	0	0	0	0	1	0	0	0	5732	1087	38	1	690	1	FBRS	16	30680146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12683	30680146	59674607	16217	26534											
FBRS	64319	broad.mit.edu	37	chr16	30680839	30680839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccacctgctgcggcccCgggaacccctcaccttctca	7	21	2	0	rs146279694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680839C>T	ENST00000287468.5	+	12	1519	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L|FBRS_ENST00000356166.6_Missense_Mutation_p.P939L	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	419	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			GCTGCGGCCCCGGGAACCCCT	0.716																																						ENST00000356166.6																			0				ovary(1)	1						c.(2815-2817)cCg>cTg		fibrosin		C	LEU/PRO	0,4274		0,0,2137	80	101	94		1256	4.1	0.9	16	dbSNP_134	94	1,8475		0,1,4237	no	missense	FBRS	NM_001105079.1	98	0,1,6374	TT,TC,CC		0.0118,0.0,0.0078	benign	419/461	30680839	1,12749	2137	4238	6375	SO:0001583	missense	64319							g.chr16:30680839C>T	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1256C>T	16.37:g.30680839C>T	ENSP00000287468:p.Pro419Leu					FBRS_ENST00000395073.2_Missense_Mutation_p.P331L|FBRS_ENST00000287468.5_Missense_Mutation_p.P419L|FBRS_ENST00000568722.1_Missense_Mutation_p.P331L	p.P939L			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		18	3904	+			419					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2816C>T		.	.	.	.	.	.	.	.	.	.	C	12.29	1.893585	0.33442	0.0	1.18E-4	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32753	1.44	5.09	4.14	0.48551	.	0.344694	0.27473	N	0.019219	T	0.19406	0.0466	N	0.22421	0.69	0.50813	D	0.999891	B	0.06786	0.001	B	0.04013	0.001	T	0.04593	-1.0940	10	0.40728	T	0.16	-4.522	8.3844	0.32491	0.1539:0.7642:0.0:0.0819	.	419	Q9HAH7	FBRS_HUMAN	L	939;419;331	ENSP00000348489:P939L	ENSP00000287468:P419L	P	+	2	0	FBRS	30588340	0.947000	0.32204	0.880000	0.34516	0.974000	0.67602	2.146000	0.42216	1.383000	0.46405	0.561000	0.74099	CCG		0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		25	1568	0	0	0	1	0	25	1568					T	30680839	C	T	30680839	3	4	79	1	0	0	0	0	1	0	0	0	5732	652	23	1	1298	1	FBRS	16	30680839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	30680839	59673914	16218	26535											
SRCAP	10847	broad.mit.edu	37	chr16	30740437	30740437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgttgccagccccatcGgccctcgttctcctggcccc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30740437G>A	ENST00000262518.4	+	26	6194	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1937					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCATCGGCCCTCGTTC	0.597																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5809-5811)Ggc>Agc		Snf2-related CREBBP activator protein							54	55	55					16																	30740437		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30740437G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5809G>A	16.37:g.30740437G>A	ENSP00000262518:p.Gly1937Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S	p.G1937S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		26	6194	+			1937					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5809G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496274	0.44352	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91180	-2.77;-2.8;-2.78	5.4	4.45	0.53987	.	0.000000	0.56097	D	0.000035	T	0.75708	0.3886	N	0.03608	-0.345	0.36061	D	0.841433	P;B	0.39443	0.674;0.32	B;B	0.32677	0.15;0.072	T	0.80770	-0.1234	10	0.36615	T	0.2	-1.5968	11.2141	0.48817	0.0851:0.0:0.9149:0.0	.	1875;1937	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1937;1875;1779	ENSP00000262518:G1937S;ENSP00000378499:G1875S;ENSP00000343042:G1779S	ENSP00000262518:G1937S	G	+	1	0	SRCAP	30647938	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.899000	0.48679	1.525000	0.49052	0.591000	0.81541	GGC		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	373	0	0	0	1	0	11	373					A	30740437	G	A	30740437	3	1	79	1	0	0	0	0	1	0	0	0	15187	1116	39	1	5903	1	SRCAP	16	30740437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59598	30740437	59614316	16219	26536											
SRCAP	10847	broad.mit.edu	37	chr16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaggaagagactgtgGccagcaagcagactcatatt	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2234	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGACTGTGGCCAGCAAGCA	0.478																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6700-6702)Gcc>Tcc		Snf2-related CREBBP activator protein							117	110	112					16																	30745907		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30745907G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6700G>T	16.37:g.30745907G>T	ENSP00000262518:p.Ala2234Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S	p.A2234S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		31	7085	+			2234			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6700G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573208	0.45902	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07688	3.17;3.17;3.17	6.04	6.04	0.98038	.	0.240983	0.29480	N	0.012035	T	0.07369	0.0186	N	0.04508	-0.205	0.30318	N	0.787897	D;D	0.56287	0.975;0.958	P;B	0.52386	0.697;0.423	T	0.27262	-1.0079	10	0.24483	T	0.36	-13.8238	12.661	0.56813	0.076:0.0:0.924:0.0	.	2172;2234	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2234;2172;2076	ENSP00000262518:A2234S;ENSP00000378499:A2172S;ENSP00000343042:A2076S	ENSP00000262518:A2234S	A	+	1	0	SRCAP	30653408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.873000	0.98535	0.563000	0.77884	GCC		0.478	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		104	369	1	0	3.45148e-53	1	4.30018e-53	104	369					T	30745907	G	T	30745907	3	4	79	1	0	0	0	0	1	0	0	0	15187	1203	42	3	6814	3	SRCAP	16	30745907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	30745907	59608846	16220	26537											
SRCAP	10847	broad.mit.edu	37	chr16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaggctgacaggacctcgGaagagctgacagaggccaag	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2675	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGACCTCGGAAGAGCTGAC	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8023-8025)Gaa>Taa		Snf2-related CREBBP activator protein							78	66	70					16																	30749384		2197	4300	6497	SO:0001587	stop_gained	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749384G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8023G>T	16.37:g.30749384G>T	ENSP00000262518:p.Glu2675*					SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*	p.E2675*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8408	+			2675			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	c.8023G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	44	10.550334	0.99426	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.02	4.02	0.46733	.	0.272978	0.26289	N	0.025226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.7686	14.0938	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	2675;2613;2517	.	ENSP00000262518:E2675X	E	+	1	0	SRCAP	30656885	0.993000	0.37304	0.967000	0.41034	0.135000	0.20990	2.659000	0.46741	2.543000	0.85770	0.467000	0.42956	GAA		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		35	311	1	0	2.47316e-13	1	2.66891e-13	35	311					T	30749384	G	T	30749384	4	4	79	1	0	0	0	0	0	1	0	0	15187	1175	41	3	8149	3	SRCAP	16	30749384	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3477	30749384	59605369	16221	26538											
SRCAP	10847	broad.mit.edu	37	chr16	30750367	30750367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccatttcaacgtccccAcccaaacggaagaggggccg	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000395059.2_Silent_p.P2940P|SRCAP_ENST00000344771.4_Silent_p.P2844P|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3002	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAACGTCCCCACCCAAACGGA	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(9004-9006)ccA>ccG		Snf2-related CREBBP activator protein							146	115	126					16																	30750367		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750367A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9006A>G	16.37:g.30750367A>G						SRCAP_ENST00000395059.2_Silent_p.P2940P|SRCAP_ENST00000344771.4_Silent_p.P2844P	p.P3002P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9391	+			3002			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.9006A>G	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		49	316	0	0	0	1	0	49	316					G	30750367	A	G	30750367	2	3	79	1	0	0	0	0	0	0	0	1	15187	146	6	4		4	SRCAP	16	30750367	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	983	30750367	59604386	16222	26539											
PHKG2	5261	broad.mit.edu	37	chr16	30771464	30771464	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagtggattggaaagCtgatggcttgtgtatgatga	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30771464C>T	ENST00000563588.1	+	0	4506				RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Intron|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|C16orf93_ENST00000543610.1_Intron|C16orf93_ENST00000545825.1_3'UTR|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000424889.3_Silent_p.L370L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			gattggaaagctgatggcttg	0.418																																						ENST00000424889.3																			0				ovary(1)|skin(1)	2						c.(1108-1110)Ctg>Ttg		phosphorylase kinase, gamma 2 (testis)																																				SO:0001624	3_prime_UTR_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30771464C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.*3046C>T	16.37:g.30771464C>T						C16orf93_ENST00000545825.1_3'UTR|C16orf93_ENST00000543610.1_Intron|C16orf93_ENST00000541260.1_Intron|PHKG2_ENST00000563588.1_3'UTR	p.L370L	NM_001172432.1	NP_001165903.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		11	1318	+			0			Calmodulin-binding (domain-C) (By similarity).		A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	c.1108C>T	CCDS10690.1																																																																																				0.418	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		11	44	0	0	0	1	0	11	44					T	30771464	C	T	30771464	1	4	79	0	1	0	0	0	0	0	0	0	11889	796	28	2		2	PHKG2	16	30771464	3'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21097	30771464	59583289	16223	26540											
RNF40	9810	broad.mit.edu	37	chr16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagtatgagatgctgcGcatcgagtttgagcagaatc	13	7	0	3	rs11556801	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000324685.6	+	11	1823	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	463			R -> H (in dbSNP:rs11556801).		histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(1387-1389)cGc>cAc		ring finger protein 40, E3 ubiquitin protein ligase							71	49	56					16																	30778156		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30778156G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1388G>A	16.37:g.30778156G>A	ENSP00000325677:p.Arg463His					RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H	p.R463H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		11	1823	+			463		R -> H (in dbSNP:rs11556801).			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1388G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522352	0.96431	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.37235	1.21;1.21;1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68454	-0.5404	10	0.52906	T	0.07	-11.9928	18.7552	0.91830	0.0:0.0:1.0:0.0	rs11556801;rs11556801	155;363;463;463	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	463;363;155	ENSP00000325677:R463H;ENSP00000350563:R363H;ENSP00000384942:R155H	ENSP00000325677:R463H	R	+	2	0	RNF40	30685657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	CGC		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		40	113	0	0	0	1	0	40	113					A	30778156	G	A	30778156	3	1	79	1	0	0	0	0	1	0	0	0	13543	1087	38	1	1426	1	RNF40	16	30778156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6692	30778156	59576597	16224	26541											
ZNF629	23361	broad.mit.edu	37	chr16	30794890	30794890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgccggtgtgggatcgCtggtgcttgatgaggttggt	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(757-759)caG>caA		zinc finger protein 629							97	101	100					16																	30794890		2196	4300	6496	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794890C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.759G>A	16.37:g.30794890C>T							p.Q253Q	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	966	-			253					Q15938	Silent	SNP	ENST00000262525.4	37	c.759G>A	CCDS45463.1																																																																																				0.642	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		86	324	0	0	0	1	0	86	324					T	30794890	C	T	30794890	2	4	79	1	0	0	0	0	0	0	0	1	18106	796	28	2		2	ZNF629	16	30794890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16734	30794890	59559863	16225	26542											
HSD3B7	80270	broad.mit.edu	37	chr16	30997931	30997931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcccaccaggggcaAcgaagacaccccatacgaag	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30997931A>G	ENST00000297679.5	+	5	530	c.437A>G	c.(436-438)aAc>aGc	p.N146S	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|HSD3B7_ENST00000262520.6_Missense_Mutation_p.N146S	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	146					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAGGGGCAACGAAGACACC	0.602																																						ENST00000262520.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(436-438)aAc>aGc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							95	94	94					16																	30997931		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997931A>G	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.437A>G	16.37:g.30997931A>G	ENSP00000297679:p.Asn146Ser					HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|HSD3B7_ENST00000297679.5_Missense_Mutation_p.N146S	p.N146S	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN			5	727	+			146					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.437A>G	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038306	0.75617	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.84873	-1.91;-1.91;-1.91	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.042077	0.85682	D	0.000000	D	0.88687	0.6504	M	0.62088	1.915	0.52501	D	0.999951	B;P	0.49862	0.368;0.929	B;P	0.56216	0.292;0.794	D	0.87868	0.2669	10	0.38643	T	0.18	-15.5205	13.8286	0.63366	1.0:0.0:0.0:0.0	.	146;146	Q96M28;Q9H2F3	.;3BHS7_HUMAN	S	146	ENSP00000262520:N146S;ENSP00000370662:N146S;ENSP00000297679:N146S	ENSP00000262520:N146S	N	+	2	0	HSD3B7	30905432	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.574000	0.67424	2.154000	0.67381	0.459000	0.35465	AAC		0.602	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			9	411	0	0	0	1	0	9	411					G	30997931	A	G	30997931	3	3	79	1	0	0	0	0	1	0	0	0	7422	43	2	4	451	4	HSD3B7	16	30997931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203041	30997931	59356822	16226	26543											
HSD3B7	80270	broad.mit.edu	37	chr16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacgatggatcaccctacaGgagctacgaggatttcaaca	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(796-798)aGg>aTg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							126	124	125					16																	30999191		2197	4299	6496	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999191G>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.797G>T	16.37:g.30999191G>T	ENSP00000297679:p.Arg266Met					HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.R266M	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	890	+			266					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.797G>T	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066174	0.55539	.	.	ENSG00000099377	ENST00000297679	T	0.62941	-0.01	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.044917	0.85682	D	0.000000	T	0.30978	0.0782	N	0.00879	-1.12	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.09422	-1.0675	10	0.41790	T	0.15	-25.6465	10.0568	0.42250	0.9187:0.0:0.0813:0.0	.	266	Q9H2F3	3BHS7_HUMAN	M	266	ENSP00000297679:R266M	ENSP00000297679:R266M	R	+	2	0	HSD3B7	30906692	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.505000	0.53356	0.785000	0.33685	-0.254000	0.11334	AGG		0.632	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			47	1268	1	0	2.46105e-21	1	2.77029e-21	47	1268					T	30999191	G	T	30999191	3	4	79	1	0	0	0	0	1	0	0	0	7422	1000	35	3	819	3	HSD3B7	16	30999191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	30999191	59355562	16227	26544											
HSD3B7	80270	broad.mit.edu	37	chr16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccgacaaggctcagcGccatttcggctatgagcccc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	340					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.R340L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647																																						ENST00000297679.5																			1	Substitution - Missense(1)	p.R340L(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1018-1020)cGc>cAc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							41	36	38					16																	30999413		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999413G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1019G>A	16.37:g.30999413G>A	ENSP00000297679:p.Arg340His					HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.R340H	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	1112	+			340					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.1019G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504362	0.85176	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	4.2	0.49525	.	0.105382	0.64402	D	0.000019	T	0.69869	0.3159	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.71636	-0.4533	10	0.62326	D	0.03	-24.6471	9.4788	0.38889	0.1662:0.0:0.8338:0.0	.	340	Q9H2F3	3BHS7_HUMAN	H	340	ENSP00000297679:R340H	ENSP00000297679:R340H	R	+	2	0	HSD3B7	30906914	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.398000	0.81561	0.655000	0.94253	CGC		0.647	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			34	192	0	0	0	1	0	34	192					A	30999413	G	A	30999413	3	1	79	1	0	0	0	0	1	0	0	0	7422	1087	38	1	1041	1	HSD3B7	16	30999413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	30999413	59355340	16228	26545											
STX4	6810	broad.mit.edu	37	chr16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagaaccagaagaaggCgaggaaggtgagcctcccag	15	10	0	4	rs376316073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000313843.3	+	9	1121	c.806C>T	c.(805-807)gCg>gTg	p.A269V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.A267V	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	269	Interaction with CENPF. {ECO:0000250}.			A -> V (in Ref. 1; AAA20967). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(799-801)gCg>gTg		syntaxin 4		C	VAL/ALA	0,4394		0,0,2197	149	128	135		806	6.1	1	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX4	NM_004604.3	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	269/298	31050965	1,12993	2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31050965C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.806C>T	16.37:g.31050965C>T	ENSP00000317714:p.Ala269Val					STX4_ENST00000313843.3_Missense_Mutation_p.A269V|STX4_ENST00000493902.1_3'UTR	p.A267V	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			10	1143	+			269			Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.800C>T	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546054	0.86022	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.39406	1.08;1.26	6.08	6.08	0.98989	.	0.102174	0.64402	D	0.000002	T	0.51109	0.1655	M	0.81682	2.555	0.46096	D	0.99886	D;D	0.64830	0.993;0.994	B;B	0.42030	0.373;0.198	T	0.60424	-0.7266	10	0.62326	D	0.03	-11.455	19.4349	0.94788	0.0:1.0:0.0:0.0	.	269;267	Q12846;A8MXY0	STX4_HUMAN;.	V	267;269	ENSP00000378447:A267V;ENSP00000317714:A269V	ENSP00000317714:A269V	A	+	2	0	STX4	30958466	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.379000	0.66196	2.894000	0.99253	0.655000	0.94253	GCG		0.587	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		130	537	0	0	0	1	0	130	537					T	31050965	C	T	31050965	3	4	79	1	0	0	0	0	1	0	0	0	15399	768	27	1	840	1	STX4	16	31050965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51552	31050965	59303788	16229	26546											
STX4	6810	broad.mit.edu	37	chr16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgtccatcaccgtcGtcctcctagcagtcatcatt	7	14	4	0	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000313843.3	+	10	1168	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V283I	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	285	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(847-849)Gtc>Atc		syntaxin 4							328	246	274					16																	31051083		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31051083G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.853G>A	16.37:g.31051083G>A	ENSP00000317714:p.Val285Ile					STX4_ENST00000313843.3_Missense_Mutation_p.V285I|STX4_ENST00000493902.1_3'UTR	p.V283I	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			11	1190	+			285			Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.847G>A	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075803	0.01903	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.34667	1.35;1.55	6.08	1.95	0.26073	.	0.454422	0.23652	N	0.045909	T	0.14442	0.0349	N	0.03281	-0.365	0.21553	N	0.999647	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28459	-1.0043	10	0.10636	T	0.68	-4.7427	11.2572	0.49060	0.2188:0.3492:0.432:0.0	.	285;283	Q12846;A8MXY0	STX4_HUMAN;.	I	283;285	ENSP00000378447:V283I;ENSP00000317714:V285I	ENSP00000317714:V285I	V	+	1	0	STX4	30958584	0.998000	0.40836	0.707000	0.30419	0.044000	0.14063	0.405000	0.21015	0.153000	0.19213	-0.882000	0.02950	GTC		0.602	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		216	910	0	0	0	1	0	216	910					A	31051083	G	A	31051083	3	1	79	1	0	0	0	0	1	0	0	0	15399	1145	40	1	891	1	STX4	16	31051083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	31051083	59303670	16230	26547											
ZNF668	79759	broad.mit.edu	37	chr16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgcgcaagtcgctgGcactcaagaaggccttggga	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1750-1752)gCc>gTc		zinc finger protein 668							62	64	64					16																	31072498		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072498G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>T	16.37:g.31072498G>A	ENSP00000440149:p.Ala584Val					ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V	p.A584V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2535	-			584					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1751C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658554	0.67586	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	N	0.14661	0.345	0.47476	D	0.99943	D	0.61080	0.989	P	0.57846	0.828	T	0.02736	-1.1117	10	0.27785	T	0.31	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	V	607;584;584;584;584	ENSP00000442573:A607V;ENSP00000441349:A584V;ENSP00000440149:A584V;ENSP00000378434:A584V;ENSP00000300849:A584V	ENSP00000300849:A584V	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC		0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		150	505	0	0	0	1	0	150	505					A	31072498	G	A	31072498	3	1	79	1	0	0	0	0	1	0	0	0	18128	1203	42	2	112	2	ZNF668	16	31072498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	31072498	59282255	16231	26548											
ZNF668	79759	broad.mit.edu	37	chr16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcactgagctgtgagtgCggctgtgtttgcgcagccca	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1690-1692)cGc>cAc		zinc finger protein 668							58	55	56					16																	31072558		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072558C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1691G>A	16.37:g.31072558C>T	ENSP00000440149:p.Arg564His					ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H	p.R564H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2475	-			564					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1691G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860853	0.71834	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131819	0.47455	D	0.000224	T	0.52158	0.1717	M	0.78049	2.395	0.42855	D	0.994091	D	0.89917	1.0	D	0.68353	0.957	T	0.58736	-0.7584	10	0.87932	D	0	-39.4971	16.7615	0.85513	0.0:1.0:0.0:0.0	.	564	Q96K58	ZN668_HUMAN	H	587;564;564;564;564	ENSP00000442573:R587H;ENSP00000441349:R564H;ENSP00000440149:R564H;ENSP00000378434:R564H;ENSP00000300849:R564H	ENSP00000300849:R564H	R	-	2	0	ZNF668	30980059	0.447000	0.25673	1.000000	0.80357	0.932000	0.56968	0.773000	0.26661	2.500000	0.84329	0.561000	0.74099	CGC		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		27	540	0	0	0	1	0	27	540					T	31072558	C	T	31072558	3	4	79	1	0	0	0	0	1	0	0	0	18128	768	27	1	172	1	ZNF668	16	31072558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	31072558	59282195	16232	26549											
ZNF668	79759	broad.mit.edu	37	chr16	31075549	31075549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagggcctaggcttggccgCggagcctgacaccttctccc	12	15	1	1	rs202118331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31075549C>T	ENST00000538906.1	-	2	1016	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTTGGCCGCGGAGCCTGAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16384	0.0		0.0	False		,,,				2504	0.0				Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(232-234)Gcg>Acg		zinc finger protein 668							80	73	75					16																	31075549		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075549C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.232G>A	16.37:g.31075549C>T	ENSP00000440149:p.Ala78Thr					ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T	p.A78T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1016	-			78					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.232G>A	CCDS10701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.950	0.967889	0.18659	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.46819	3.21;3.22;3.22;3.22;3.22;3.1;0.86	4.77	2.63	0.31362	.	0.424966	0.22156	N	0.063841	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31998	-0.9923	10	0.66056	D	0.02	-14.7359	10.7323	0.46104	0.1533:0.7108:0.1359:0.0	.	78	Q96K58	ZN668_HUMAN	T	101;78;78;78;78;78;78	ENSP00000442573:A101T;ENSP00000441349:A78T;ENSP00000440149:A78T;ENSP00000378434:A78T;ENSP00000300849:A78T;ENSP00000416853:A78T;ENSP00000390671:A78T	ENSP00000300849:A78T	A	-	1	0	ZNF668	30983050	0.004000	0.15560	0.009000	0.14445	0.057000	0.15508	1.151000	0.31651	1.324000	0.45282	0.561000	0.74099	GCG		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		13	397	0	0	0	1	0	13	397					T	31075549	C	T	31075549	3	4	79	1	0	0	0	0	1	0	0	0	18128	768	27	1	1635	1	ZNF668	16	31075549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2991	31075549	59279204	16233	26550											
ZNF646	9726	broad.mit.edu	37	chr16	31087864	31087864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggacccacgagactggCcttttcccctgtaccacctg	9	17	0	1	rs544717319		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Silent_p.G73G			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(217-219)ggC>ggT		zinc finger protein 646							101	61	75					16																	31087864		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087864C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.219C>T	16.37:g.31087864C>T						ZNF646_ENST00000300850.5_Silent_p.G73G	p.G73G			O15015	ZN646_HUMAN			1	642	+			73					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.219C>T																																																																																					0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		71	276	0	0	0	1	0	71	276					T	31087864	C	T	31087864	2	4	79	1	0	0	0	0	0	0	0	1	18115	726	26	2		2	ZNF646	16	31087864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12315	31087864	59266889	16234	26551											
ZNF646	9726	broad.mit.edu	37	chr16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcccctcctgctgaggagGagcggcggtacaaatgtagt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K			O15015	ZN646_HUMAN	zinc finger protein 646	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(706-708)Gag>Aag		zinc finger protein 646							53	53	53					16																	31088351		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088351G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.706G>A	16.37:g.31088351G>A	ENSP00000378429:p.Glu236Lys					ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K	p.E236K			O15015	ZN646_HUMAN			1	1129	+			236					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065241	0.76187	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979;ENST00000439353	T;T;T	0.34859	2.92;1.34;1.34	5.6	5.6	0.85130	.	.	.	.	.	T	0.51890	0.1701	L	0.34521	1.04	0.37802	D	0.927732	D	0.76494	0.999	D	0.85130	0.997	T	0.57306	-0.7834	9	0.87932	D	0	-19.1463	18.3906	0.90481	0.0:0.0:1.0:0.0	.	236	O15015-2	.	K	236;236;236;1	ENSP00000391271:E236K;ENSP00000300850:E236K;ENSP00000378429:E236K	ENSP00000300850:E236K	E	+	1	0	ZNF646	30995852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.892000	0.56235	2.640000	0.89533	0.655000	0.94253	GAG		0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		65	215	0	0	0	1	0	65	215					A	31088351	G	A	31088351	3	1	79	1	0	0	0	0	1	0	0	0	18115	1175	41	2	708	2	ZNF646	16	31088351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	31088351	59266402	16235	26552											
ZNF646	9726	broad.mit.edu	37	chr16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacatatctgtagcatctGtgggctgctctttgaagacg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1738-1740)tGt>tAt		zinc finger protein 646							98	102	101					16																	31089384		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089384G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1739G>A	16.37:g.31089384G>A	ENSP00000378429:p.Cys580Tyr					ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y	p.C580Y			O15015	ZN646_HUMAN			1	2162	+			580					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1739G>A		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431314	0.62844	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	.	.	.	.	.	T	0.61739	0.2371	L	0.32530	0.975	0.43300	D	0.995291	D	0.67145	0.996	D	0.63192	0.912	T	0.64732	-0.6338	9	0.87932	D	0	-3.1242	17.6776	0.88235	0.0:0.0:1.0:0.0	.	580	O15015-2	.	Y	580	ENSP00000300850:C580Y;ENSP00000378429:C580Y	ENSP00000300850:C580Y	C	+	2	0	ZNF646	30996885	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.425000	0.44723	2.722000	0.93159	0.655000	0.94253	TGT		0.532	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		57	318	0	0	0	1	0	57	318					A	31089384	G	A	31089384	3	1	79	1	0	0	0	0	1	0	0	0	18115	1377	48	2	1741	2	ZNF646	16	31089384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	31089384	59265369	16236	26553											
PRSS53	339105	broad.mit.edu	37	chr16	31096484	31096484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgacaccagggctccGccacaggccagctgtccctg	10	18	1	1	rs371720280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	327	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(979-981)ggC>ggT		protease, serine, 53							22	27	26					16																	31096484		2076	4214	6290	SO:0001819	synonymous_variant	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31096484G>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.981C>T	16.37:g.31096484G>A							p.G327G	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			7	1134	-			327			Peptidase S1 2.			Silent	SNP	ENST00000280606.6	37	c.981C>T	CCDS42153.1																																																																																				0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		19	79	0	0	0	1	0	19	79					A	31096484	G	A	31096484	2	1	79	1	0	0	0	0	0	0	0	1	12679	1074	38	1		1	PRSS53	16	31096484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7100	31096484	59258269	16237	26554											
VKORC1	79001	broad.mit.edu	37	chr16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgctgtcctgtcccaGcacatgctccaccagcccga	10	16	0	0	rs202194968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000394975.2	-	2	435	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000319788.7_Missense_Mutation_p.L70M|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	70					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(208-210)Ctg>Atg		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						139	100	113					16																	31104708		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31104708G>T		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"vitamin K dependent clotting factors deficiency 2"	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.208C>A	16.37:g.31104708G>T	ENSP00000378426:p.Leu70Met					VKORC1_ENST00000394975.2_Missense_Mutation_p.L70M|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D	p.L70M			Q9BQB6	VKOR1_HUMAN			2	418	-			70					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.208C>A	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901624|3.901624	0.72754|0.72754	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97303|0.98649	-4.33|-4.71;-5.05;-3.23	6.17|6.17	0.769|0.769	0.18492|0.18492	.|Vitamin K epoxide reductase (2);	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.98707|0.98707	0.9566|0.9566	M|M	0.78456|0.78456	2.415|2.415	0.24446|0.24446	N|N	0.994508|0.994508	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96014|0.96014	0.9004|0.9004	7|10	0.36615|0.62326	T|D	0.2|0.03	-2.9956|-2.9956	10.007|10.007	0.41964|0.41964	0.4261:0.0:0.5738:0.0|0.4261:0.0:0.5738:0.0	.|.	.|70;70	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	D|M	90;101;102|70	ENSP00000300851:A90D|ENSP00000326135:L70M;ENSP00000378426:L70M;ENSP00000431371:L70M	ENSP00000300851:A90D|ENSP00000431371:L70M	A|L	-|-	2|1	0|2	VKORC1|RP11-196G11.1;VKORC1	31012209|31012209	0.992000|0.992000	0.36948|0.36948	0.770000|0.770000	0.31555|0.31555	0.903000|0.903000	0.53119|0.53119	0.200000|0.200000	0.17257|0.17257	-0.055000|-0.055000	0.13244|0.13244	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.592	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		68	287	1	0	1.15098e-32	1	1.36004e-32	68	287					T	31104708	G	T	31104708	3	4	79	1	0	0	0	0	1	0	0	0	17226	962	34	3	291	3	VKORC1	16	31104708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8224	31104708	59250045	16238	26555											
VKORC1	79001	broad.mit.edu	37	chr16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctccaccagcccgAaacccctgccccacctggca	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000394975.2	-	2	415	c.188T>C	c.(187-189)tTc>tCc	p.F63S	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000319788.7_Missense_Mutation_p.F63S|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000300851.6_Silent_p.F83F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(187-189)tTc>tCc		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						101	77	85					16																	31104728		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31104728A>G		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"vitamin K dependent clotting factors deficiency 2"	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.188T>C	16.37:g.31104728A>G	ENSP00000378426:p.Phe63Ser					VKORC1_ENST00000394975.2_Missense_Mutation_p.F63S|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000394971.3_Silent_p.F94F	p.F63S			Q9BQB6	VKOR1_HUMAN			2	398	-			63					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.188T>C	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743712	0.89663	.	.	ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000319788;ENST00000394975;ENST00000529564	D;D;D	0.98717	-5.09;-5.09;-5.09	6.08	6.08	0.98989	Vitamin K epoxide reductase (2);	0.000000	0.64402	D	0.000002	D	0.99162	0.9710	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99556	1.0967	10	0.87932	D	0	-42.7049	15.6264	0.76863	1.0:0.0:0.0:0.0	.	63;63	Q9BQB6-2;Q9BQB6	.;VKOR1_HUMAN	S	63	ENSP00000326135:F63S;ENSP00000378426:F63S;ENSP00000431371:F63S	ENSP00000431371:F63S	F	-	2	0	RP11-196G11.1;VKORC1	31012229	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.469000	0.80959	2.333000	0.79357	0.533000	0.62120	TTC		0.557	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		53	247	0	0	0	1	0	53	247					G	31104728	A	G	31104728	3	3	79	1	0	0	0	0	1	0	0	0	17226	246	9	4	311	4	VKORC1	16	31104728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	31104728	59250025	16239	26556											
PRSS36	146547	broad.mit.edu	37	chr16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggtagccagcacacaGcatccctggcaatatctgga	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	227	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(679-681)Ctg>Atg		protease, serine, 36							67	68	68					16																	31157151		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157151G>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.679C>A	16.37:g.31157151G>T	ENSP00000268281:p.Leu227Met					PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	737	-			227			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.679C>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414918	0.62511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.90385	-2.66;-2.66	5.45	0.754	0.18410	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90943	0.7153	L	0.48174	1.505	0.40839	D	0.983656	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.87075	0.2162	9	0.36615	T	0.2	.	5.5116	0.16884	0.1691:0.0:0.5682:0.2627	.	227;227;227	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	227	ENSP00000268281:L227M;ENSP00000407160:L227M	ENSP00000268281:L227M	L	-	1	2	PRSS36	31064652	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	0.165000	0.16564	0.658000	0.30925	0.491000	0.48974	CTG		0.617	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		90	428	1	0	2.75442e-36	1	3.29635e-36	90	428					T	31157151	G	T	31157151	3	4	79	1	0	0	0	0	1	0	0	0	12672	962	34	3	1928	3	PRSS36	16	31157151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52423	31157151	59197602	16240	26557											
FUS	2521	broad.mit.edu	37	chr16	31202336	31202336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggctatgatcgaggCggctaccggggccgcggcgg	20	10	0	2	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G483G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	482	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"fusion, derived from t(12;16) malignant liposarcoma"			"M, L"	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"		"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1444-1446)ggC>ggT		fused in sarcoma							47	57	54					16																	31202336		2196	4300	6496	SO:0001819	synonymous_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202336C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1446C>T	16.37:g.31202336C>T						FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000568685.1_Silent_p.G483G|FUS_ENST00000474990.1_3'UTR	p.G482G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	14	1551	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	482			Arg/Gly-rich.		Q9H4A8	Silent	SNP	ENST00000254108.7	37	c.1446C>T	CCDS10707.1																																																																																				0.602	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		107	502	0	0	0	1	0	107	502					T	31202336	C	T	31202336	2	4	79	1	0	0	0	0	0	0	0	1	6127	755	27	1		1	FUS	16	31202336	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45185	31202336	59152417	16241	26558											
ITGAM	3684	broad.mit.edu	37	chr16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacggaaccgggtgcaaaGcctggttctgggggcacctc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000287497.8	+	12	1328	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000544665.3_Missense_Mutation_p.S418N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	418					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1252-1254)aGc>aAc		integrin, alpha M (complement component 3 receptor 3 subunit)							44	45	45					16																	31289327		2042	4183	6225	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31289327G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1253G>A	16.37:g.31289327G>A	ENSP00000287497:p.Ser418Asn					ITGAM_ENST00000287497.8_Missense_Mutation_p.S418N	p.S418N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			12	1324	+			418					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1253G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	7.835	0.720633	0.15372	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.75	-2.93	0.05598	.	.	.	.	.	T	0.14013	0.0339	L	0.43554	1.36	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.38672	-0.9650	9	0.16896	T	0.51	.	6.729	0.23373	0.4375:0.1202:0.4423:0.0	.	418;418	Q4VAK1;P11215	.;ITAM_HUMAN	N	418	ENSP00000441691:S418N;ENSP00000287497:S418N	ENSP00000287497:S418N	S	+	2	0	ITGAM	31196828	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.896000	0.04114	-0.948000	0.03668	-2.236000	0.00289	AGC		0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		10	44	0	0	0	1	0	10	44					A	31289327	G	A	31289327	3	1	79	1	0	0	0	0	1	0	0	0	7917	971	34	2	1299	2	ITGAM	16	31289327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	31289327	59065426	16242	26559											
ITGAX	3687	broad.mit.edu	37	chr16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcaagacctcacccaGgatggactggtggacctggc	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	596					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)			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						ACCTCACCCAGGATGGACTGG	0.652																																						ENST00000268296.4																			0				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						c.(1786-1788)caG>caT		integrin, alpha X (complement component 3 receptor 4 subunit)							50	56	54					16																	31382482		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.chr16:31382482G>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.1788G>T	16.37:g.31382482G>T	ENSP00000268296:p.Gln596His					ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1909	+			596					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1788G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106802	0.37145	.	.	ENSG00000140678	ENST00000268296	T	0.55588	0.51	5.39	4.44	0.53790	.	.	.	.	.	T	0.43722	0.1260	L	0.41961	1.31	0.28191	N	0.927758	B	0.13145	0.007	B	0.11329	0.006	T	0.36089	-0.9762	9	0.42905	T	0.14	.	8.4724	0.32993	0.1767:0.0:0.8233:0.0	.	596	P20702	ITAX_HUMAN	H	596	ENSP00000268296:Q596H	ENSP00000268296:Q596H	Q	+	3	2	ITGAX	31289983	0.989000	0.36119	0.873000	0.34254	0.857000	0.48899	1.990000	0.40717	1.390000	0.46547	0.655000	0.94253	CAG		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		36	529	1	0	2.75727e-19	1	3.0731e-19	36	529					T	31382482	G	T	31382482	3	4	79	1	0	0	0	0	1	0	0	0	7919	991	35	3	1846	3	ITGAX	16	31382482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93155	31382482	58972271	16243	26560											
ITGAD	3681	broad.mit.edu	37	chr16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcctgggggccccccGctaccagcataccgggaagg	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					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)			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						GGGGCCCCCCGCTACCAGCAT	0.642																																						ENST00000389202.2																			0				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						c.(1273-1275)cGc>cAc		integrin, alpha D							39	39	39					16																	31422117		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422117G>A	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.1274G>A	16.37:g.31422117G>A	ENSP00000373854:p.Arg425His						p.R425H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			12	1323	+			425					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1274G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		70	292	0	0	0	1	0	70	292					A	31422117	G	A	31422117	3	1	79	1	0	0	0	0	1	0	0	0	7914	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39635	31422117	58932636	16244	26561											
ARMC5	79798	broad.mit.edu	37	chr16	31478178	31478178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctggctgtggtgatgGggattgagttgggggcaagg	20	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31478178G>T	ENST00000563544.1	+	7	3322	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000408912.3_Missense_Mutation_p.G1021W|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	926										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTGGTGATGGGGATTGAGTT	0.637																																						ENST00000408912.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(3061-3063)Ggg>Tgg		armadillo repeat containing 5							32	39	36					16																	31478178		2018	4170	6188	SO:0001583	missense	79798						binding	g.chr16:31478178G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2776G>T	16.37:g.31478178G>T	ENSP00000456877:p.Gly926Trp					ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000563544.1_Missense_Mutation_p.G926W|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W	p.G1021W			Q96C12	ARMC5_HUMAN			8	3378	+			926					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.3061G>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682392	0.68157	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.59502	1.29;1.43;1.52;0.26	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	N	0.14661	0.345	0.45161	D	0.998174	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	T	0.66252	-0.5970	10	0.87932	D	0	-30.0352	13.8303	0.63377	0.0:0.0:1.0:0.0	.	958;958;1021;926	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	W	1021;958;926;570	ENSP00000386125:G1021W;ENSP00000443995:G958W;ENSP00000268314:G926W;ENSP00000400183:G570W	ENSP00000268314:G926W	G	+	1	0	ARMC5	31385679	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.971000	0.63749	2.636000	0.89361	0.448000	0.29417	GGG		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		7	104	1	0	0.00198382	1	0.00200138	7	104					T	31478178	G	T	31478178	3	4	79	1	0	0	0	0	1	0	0	0	955	1232	43	3	3112	3	ARMC5	16	31478178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56061	31478178	58876575	16245	26562											
SLC5A2	6524	broad.mit.edu	37	chr16	31499495	31499495	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcattctgtacccagGtaacatccctgccccgcccc	7	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CTGTACCCAGGTAACATCCCT	0.627																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.e8+1		solute carrier family 5 (sodium/glucose cotransporter), member 2							113	110	111					16																	31499495		2197	4300	6497	SO:0001630	splice_region_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499495G>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1021+1G>T	16.37:g.31499495G>T						AC026471.6_ENST00000565137.1_RNA		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			8	1040	+								A2RRD2	Splice_Site	SNP	ENST00000330498.3	37		CCDS10714.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.681357	0.29872	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9502	0.64111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A2	31406996	1.000000	0.71417	0.940000	0.37924	0.083000	0.17756	9.409000	0.97331	2.136000	0.66102	0.457000	0.33378	.		0.627	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		Intron	160	756	1	0	1.21316e-79	1	1.55083e-79	160	756					T	31499495	G	T	31499495	5	4	79	1	0	0	0	0	0	0	1	0	14715	1275	44	3	1052	3	SLC5A2	16	31499495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21317	31499495	58855258	16246	26563											
SLC5A2	6524	broad.mit.edu	37	chr16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcagcagccaggcGgctggaggacatcagcgagg	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	639					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCCAGGCGGCTGGAGGAC	0.647																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1915-1917)cGg>cAg		solute carrier family 5 (sodium/glucose cotransporter), member 2							33	35	34					16																	31501753		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31501753G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1916G>A	16.37:g.31501753G>A	ENSP00000327943:p.Arg639Gln					SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR	p.R639Q	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			14	1935	+			639					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1916G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768689	0.49680	.	.	ENSG00000140675	ENST00000330498	D	0.92647	-3.08	5.39	-2.0	0.07433	.	0.715087	0.13852	N	0.358262	D	0.84750	0.5541	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.69339	-0.5171	10	0.25106	T	0.35	.	9.7626	0.40541	0.7106:0.0:0.2894:0.0	.	639	P31639	SC5A2_HUMAN	Q	639	ENSP00000327943:R639Q	ENSP00000327943:R639Q	R	+	2	0	SLC5A2	31409254	0.000000	0.05858	0.991000	0.47740	0.781000	0.44180	-0.391000	0.07323	-0.193000	0.10415	-0.254000	0.11334	CGG		0.647	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			39	112	0	0	0	1	0	39	112					A	31501753	G	A	31501753	3	1	79	1	0	0	0	0	1	0	0	0	14715	1116	39	1	1970	1	SLC5A2	16	31501753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2258	31501753	58853000	16247	26564											
AHSP	51327	broad.mit.edu	37	chr16	31539464	31539464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctacccaggcagatgGctcttcttaaggccaataag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31539464G>A	ENST00000302312.4	+	2	107	c.4G>A	c.(4-6)Gct>Act	p.A2T	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	2					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						CAGGCAGATGGCTCTTCTTAA	0.473																																						ENST00000302312.4																			0				lung(2)	2						c.(4-6)Gct>Act		alpha hemoglobin stabilizing protein							113	111	112					16																	31539464		2197	4300	6497	SO:0001583	missense	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539464G>A	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.4G>A	16.37:g.31539464G>A	ENSP00000307199:p.Ala2Thr					AHSP_ENST00000569954.1_Intron	p.A2T	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN			2	107	+			2					Q8TD01	Missense_Mutation	SNP	ENST00000302312.4	37	c.4G>A	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092634	0.56075	.	.	ENSG00000169877	ENST00000302312	T	0.66638	-0.22	5.47	3.51	0.40186	.	0.726287	0.12358	N	0.475962	T	0.46405	0.1391	N	0.19112	0.55	0.26815	N	0.968905	P	0.37955	0.612	B	0.30943	0.122	T	0.42292	-0.9460	10	0.87932	D	0	.	7.2893	0.26356	0.1947:0.0:0.8053:0.0	.	2	Q9NZD4	AHSP_HUMAN	T	2	ENSP00000307199:A2T	ENSP00000307199:A2T	A	+	1	0	AHSP	31446965	1.000000	0.71417	0.979000	0.43373	0.098000	0.18820	1.901000	0.39838	1.300000	0.44818	0.557000	0.71058	GCT		0.473	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		7	411	0	0	0	1	0	7	411					A	31539464	G	A	31539464	3	1	79	1	0	0	0	0	1	0	0	0	421	1203	42	2	6	2	AHSP	16	31539464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37711	31539464	58815289	16248	26565											
ZNF267	10308	broad.mit.edu	37	chr16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattccaaaaagtgatAtcgaggagacatgggagctg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	99					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(295-297)atA>atG		zinc finger protein 267							94	93	94					16																	31925867		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925867A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.297A>G	16.37:g.31925867A>G	ENSP00000300870:p.Ile99Met					ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	p.I99M	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	506	+			99					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.297A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128715	0.06753	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.08102	3.13	0.593	-1.19	0.09585	.	.	.	.	.	T	0.08980	0.0222	L	0.41492	1.28	0.09310	N	1	P	0.51240	0.943	P	0.52598	0.703	T	0.19289	-1.0310	9	0.24483	T	0.36	.	1.5643	0.02601	0.3561:0.3213:0.0:0.3226	.	99	Q14586	ZN267_HUMAN	M	99;66	ENSP00000300870:I99M	ENSP00000300870:I99M	I	+	3	3	ZNF267	31833368	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	-0.489000	0.06490	-0.548000	0.06199	0.254000	0.18369	ATA		0.373	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		100	356	0	0	0	1	0	100	356					G	31925867	A	G	31925867	3	3	79	1	0	0	0	0	1	0	0	0	17859	439	16	4	311	4	ZNF267	16	31925867	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	386403	31925867	58428886	16249	26566											
ZNF267	10308	broad.mit.edu	37	chr16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaatgtaaagcatgtaGcaaatcttttactcgttcct	5	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	386					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1156-1158)aGc>aAc		zinc finger protein 267							71	79	76					16																	31926727		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926727G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1157G>A	16.37:g.31926727G>A	ENSP00000300870:p.Ser386Asn					RP11-170L3.8_ENST00000575471.1_RNA	p.S386N	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1366	+			386					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1157G>A	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827568	0.16749	.	.	ENSG00000185947	ENST00000300870	T	0.15017	2.46	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.20845	0.615	0.80722	D	1	B	0.31931	0.347	B	0.17722	0.019	T	0.21109	-1.0255	9	0.72032	D	0.01	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	386	Q14586	ZN267_HUMAN	N	386	ENSP00000300870:S386N	ENSP00000300870:S386N	S	+	2	0	ZNF267	31834228	0.989000	0.36119	0.055000	0.19348	0.050000	0.14768	0.778000	0.26732	0.482000	0.27582	0.484000	0.47621	AGC		0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		108	364	0	0	0	1	0	108	364					A	31926727	G	A	31926727	3	1	79	1	0	0	0	0	1	0	0	0	17859	971	34	2	1171	2	ZNF267	16	31926727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	860	31926727	58428026	16250	26567											
ZNF267	10308	broad.mit.edu	37	chr16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatcttattgtgcatgagaGaattcatactggagagaaac	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1618-1620)aGa>aTa		zinc finger protein 267							37	41	40					16																	31927189		2197	4299	6496	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927189G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1619G>T	16.37:g.31927189G>T	ENSP00000300870:p.Arg540Ile					RP11-170L3.8_ENST00000575471.1_RNA	p.R540I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1828	+			540					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1619G>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674609	0.14841	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.44359	0.447	T	0.50162	-0.8860	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	540	Q14586	ZN267_HUMAN	I	540	ENSP00000300870:R540I	ENSP00000300870:R540I	R	+	2	0	ZNF267	31834690	0.000000	0.05858	0.108000	0.21378	0.095000	0.18619	0.278000	0.18753	0.482000	0.27582	0.484000	0.47621	AGA		0.343	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		40	230	1	0	9.39024e-22	1	1.05953e-21	40	230					T	31927189	G	T	31927189	3	4	79	1	0	0	0	0	1	0	0	0	17859	942	33	3	1633	3	ZNF267	16	31927189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	31927189	58427564	16251	26568											
ZNF267	10308	broad.mit.edu	37	chr16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcctttaactctaggTcatacctcattgcacatcag	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(2185-2187)Tca>Cca		zinc finger protein 267							69	71	70					16																	31927755		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927755T>C	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2185T>C	16.37:g.31927755T>C	ENSP00000300870:p.Ser729Pro					RP11-170L3.8_ENST00000575471.1_RNA	p.S729P	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	2394	+			729					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2185T>C	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463235	0.26248	.	.	ENSG00000185947	ENST00000300870	T	0.32988	1.43	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	M	0.76002	2.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.6393	0.04966	0.0:0.3837:0.0:0.6163	.	729	Q14586	ZN267_HUMAN	P	729	ENSP00000300870:S729P	ENSP00000300870:S729P	S	+	1	0	ZNF267	31835256	0.000000	0.05858	0.215000	0.23724	0.201000	0.24016	-0.131000	0.10482	0.413000	0.25759	0.402000	0.26972	TCA		0.388	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		35	248	0	0	0	1	0	35	248					C	31927755	T	C	31927755	3	2	79	1	0	0	0	0	1	0	0	0	17859	1667	58	4	2199	4	ZNF267	16	31927755	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	31927755	58426998	16252	26569											
SHCBP1	79801	broad.mit.edu	37	chr16	46629512	46629512	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attagaaactctgctgatgtCcgcactgtgactccggtcgt	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	472					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1414-1416)cgG>cgA		SHC SH2-domain binding protein 1							102	91	95					16																	46629512		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46629512C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1416G>A	16.37:g.46629512C>T							p.R472R	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			10	1682	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	472					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1416G>A	CCDS10720.1																																																																																				0.453	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		49	386	0	0	0	1	0	49	386					T	46629512	C	T	46629512	2	4	79	1	0	0	0	0	0	0	0	1	14324	842	30	2		2	SHCBP1	16	46629512	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701757	46629512	43725241	16253	26570											
C16orf87	388272	broad.mit.edu	37	chr16	46843515	46843515	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttgatttgttcatacCtctttcttcctcatgttttt	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.e3+1		chromosome 16 open reading frame 87							215	197	203					16																	46843515		2203	4300	6503	SO:0001630	splice_region_variant	388272							g.chr16:46843515C>T		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.346+1G>A	16.37:g.46843515C>T						C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	p.E116_splice	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN			3	607	-			116					Q63HN9	Splice_Site	SNP	ENST00000285697.4	37	c.346_splice	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177511	0.57692	.	.	ENSG00000155330	ENST00000285697	.	.	.	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	8	.	.	.	-6.9821	15.1206	0.72441	0.0:0.9316:0.0:0.0684	.	116	Q6PH81	CP087_HUMAN	K	116	.	.	E	-	1	0	C16orf87	45401016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.943000	0.75934	1.541000	0.49316	0.585000	0.79938	GAG		0.383	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	Missense_Mutation	86	847	0	0	0	1	0	86	847					T	46843515	C	T	46843515	5	4	79	1	0	0	0	0	0	0	1	0	1845	695	24	2	126	2	C16orf87	16	46843515	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214003	46843515	43511238	16254	26571											
GPT2	84706	broad.mit.edu	37	chr16	46918680	46918680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtccccggacccccaGctcctggggccgcagccaga	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	ENST00000340124.4	+	2	165	c.53G>T	c.(52-54)aGc>aTc	p.S18I	GPT2_ENST00000440783.2_5'Flank	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	18					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CGGACCCCCAGCTCCTGGGGC	0.721																																						ENST00000340124.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(52-54)aGc>aTc		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						7	9	8					16																	46918680		1422	3190	4612	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46918680G>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.53G>T	16.37:g.46918680G>T	ENSP00000345282:p.Ser18Ile						p.S18I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN			2	165	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	18					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.53G>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093386	0.36952	.	.	ENSG00000166123	ENST00000340124	D	0.83075	-1.68	4.92	4.92	0.64577	.	1.077360	0.07185	N	0.854704	T	0.72301	0.3443	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.53556	-0.8422	10	0.42905	T	0.14	.	15.1791	0.72941	0.0:0.0:1.0:0.0	.	18	Q8TD30	ALAT2_HUMAN	I	18	ENSP00000345282:S18I	ENSP00000345282:S18I	S	+	2	0	GPT2	45476181	0.479000	0.25925	0.367000	0.25926	0.088000	0.18126	2.108000	0.41854	2.434000	0.82447	0.313000	0.20887	AGC		0.721	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			44	99	1	0	6.33695e-27	1	7.31871e-27	44	99					T	46918680	G	T	46918680	3	4	79	1	0	0	0	0	1	0	0	0	6768	971	34	3	55	3	GPT2	16	46918680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75165	46918680	43436073	16255	26572											
DNAJA2	10294	broad.mit.edu	37	chr16	47001552	47001552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagctccagactttccGccttggctaaagcaagcaca	9	13	0	1	rs575291050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	150					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CAGACTTTCCGCCTTGGCTAA	0.463																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(448-450)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 2							198	159	172					16																	47001552		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47001552G>A	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.450C>T	16.37:g.47001552G>A							p.G150G	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			5	665	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	150					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.450C>T	CCDS10726.1																																																																																				0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			130	544	0	0	0	1	0	130	544					A	47001552	G	A	47001552	2	1	79	1	0	0	0	0	0	0	0	1	4628	1074	38	1		1	DNAJA2	16	47001552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82872	47001552	43353201	16256	26573											
ITFG1	81533	broad.mit.edu	37	chr16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtccactcttgttttcGtatagactggaagaagaatt	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1585-1587)Cga>Tga		integrin alpha FG-GAP repeat containing 1							175	162	166					16																	47195737		2202	4300	6502	SO:0001587	stop_gained	81533					extracellular region|integral to membrane		g.chr16:47195737G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1585C>T	16.37:g.47195737G>A	ENSP00000319918:p.Arg529*					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	p.R529*	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			16	1813	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	529					Q96SR4|Q9BRE2|Q9H2V9	Nonsense_Mutation	SNP	ENST00000320640.6	37	c.1585C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733351	0.97796	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.41	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.0712	9.6162	0.39692	0.0707:0.0:0.4397:0.4895	.	.	.	.	X	529;189;274;416	.	ENSP00000319918:R529X	R	-	1	2	ITFG1	45753238	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	1.485000	0.35519	0.383000	0.24910	0.467000	0.42956	CGA		0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		98	442	0	0	0	1	0	98	442					A	47195737	G	A	47195737	4	1	79	1	0	0	0	0	0	1	0	0	7899	1153	40	1	265	1	ITFG1	16	47195737	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194185	47195737	43159016	16257	26574											
PHKB	5257	broad.mit.edu	37	chr16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagttatcctgcatTtgccctggatgatgaagttc	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000323584.5	+	10	938	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	305					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TATCCTGCATTTGCCCTGGAT	0.423																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(892-894)tTt>tCt		phosphorylase kinase, beta							98	92	94					16																	47622859		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47622859T>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.914T>C	16.37:g.47622859T>C	ENSP00000313504:p.Phe305Ser					PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000323584.5_Missense_Mutation_p.F305S|PHKB_ENST00000567402.1_3'UTR	p.F298S			Q93100	KPBB_HUMAN			11	1078	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	305					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.893T>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057005	0.93846	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.92459	3.31	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.761	D	0.98270	1.0503	10	0.87932	D	0	-9.115	16.635	0.85050	0.0:0.0:0.0:1.0	.	305;298	Q93100;Q93100-4	KPBB_HUMAN;.	S	298;298;305	ENSP00000414345:F298S;ENSP00000313504:F305S	ENSP00000299167:F298S	F	+	2	0	PHKB	46180360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.922000	0.87538	2.330000	0.79161	0.477000	0.44152	TTT		0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			23	368	0	0	0	1	0	23	368					C	47622859	T	C	47622859	3	2	79	1	0	0	0	0	1	0	0	0	11887	1841	64	4	1011	4	PHKB	16	47622859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	427122	47622859	42731894	16258	26575											
PHKB	5257	broad.mit.edu	37	chr16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaagagtgattcaaaAcatcatctattataagtgta	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000323584.5	+	26	2522	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000455779.1_Missense_Mutation_p.N826S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	833					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGATTCAAAACATCATCTAT	0.403																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2476-2478)aAc>aGc		phosphorylase kinase, beta							118	111	114					16																	47703196		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47703196A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2498A>G	16.37:g.47703196A>G	ENSP00000313504:p.Asn833Ser					PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S|PHKB_ENST00000323584.5_Missense_Mutation_p.N833S	p.N826S			Q93100	KPBB_HUMAN			27	2662	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	833					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2477A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188263	0.38609	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88741	-2.42;-2.42	6.16	6.16	0.99307	Glycoside hydrolase 15-related (1);	0.206100	0.53938	D	0.000047	D	0.83552	0.5279	L	0.35414	1.06	0.42581	D	0.993217	B;B;B	0.27559	0.181;0.008;0.18	B;B;B	0.29862	0.083;0.016;0.108	T	0.79617	-0.1729	10	0.09843	T	0.71	-24.4208	16.8061	0.85666	1.0:0.0:0.0:0.0	.	74;833;826	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	S	826;826;833	ENSP00000414345:N826S;ENSP00000313504:N833S	ENSP00000299167:N826S	N	+	2	0	PHKB	46260697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.746000	0.62133	2.367000	0.80283	0.528000	0.53228	AAC		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			86	388	0	0	0	1	0	86	388					G	47703196	A	G	47703196	3	3	79	1	0	0	0	0	1	0	0	0	11887	43	2	4	2754	4	PHKB	16	47703196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80337	47703196	42651557	16259	26576											
PHKB	5257	broad.mit.edu	37	chr16	47727313	47727313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgaacaggcgtcagatCgatgggtctttgaatagaac	13	7	2	4	rs201377441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000323584.5	+	28	2814	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I|PHKB_ENST00000566044.1_Silent_p.I923I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	930	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCGTCAGATCGATGGGTCTT	0.483																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2767-2769)atC>atT		phosphorylase kinase, beta							87	81	83					16																	47727313		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47727313C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2790C>T	16.37:g.47727313C>T						PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000566044.1_Silent_p.I923I|PHKB_ENST00000323584.5_Silent_p.I930I	p.I923I			Q93100	KPBB_HUMAN			29	2954	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	930			Calmodulin-binding (Potential).		Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.2769C>T	CCDS10729.1																																																																																				0.483	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			35	163	0	0	0	1	0	35	163					T	47727313	C	T	47727313	2	4	79	1	0	0	0	0	0	0	0	1	11887	874	31	1		1	PHKB	16	47727313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24117	47727313	42627440	16260	26577											
PHKB	5257	broad.mit.edu	37	chr16	47730390	47730390	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccacagtacagacagatCgttgtagaggtgagtagtaa	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000323584.5	+	29	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000455779.1_Silent_p.I991I|PHKB_ENST00000566044.1_Silent_p.I991I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2971-2973)atC>atT		phosphorylase kinase, beta							114	101	105					16																	47730390		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47730390C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2994C>T	16.37:g.47730390C>T						PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000323584.5_Silent_p.I998I	p.I991I			Q93100	KPBB_HUMAN			30	3158	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	998					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.2973C>T	CCDS10729.1																																																																																				0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			41	225	0	0	0	1	0	41	225					T	47730390	C	T	47730390	2	4	79	1	0	0	0	0	0	0	0	1	11887	874	31	1		1	PHKB	16	47730390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3077	47730390	42624363	16261	26578											
ABCC12	94160	broad.mit.edu	37	chr16	48125031	48125031	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcactaatttcttacCgaaatgtattccctgagcag	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1095						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATTTCTTACCGAAATGTATT	0.458																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.e23+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							142	140	141					16																	48125031		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48125031C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3285+1G>A	16.37:g.48125031C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.S1095_splice	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			23	3630	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1095					Q49AL2|Q8TAF0|Q8TEY2	Splice_Site	SNP	ENST00000311303.3	37	c.3285_splice	CCDS10730.1																																																																																				0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Silent	36	950	0	0	0	1	0	36	950					T	48125031	C	T	48125031	5	4	79	1	0	0	0	0	0	0	1	0	52	666	23	1	822	1	ABCC12	16	48125031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394641	48125031	42229722	16262	26579											
ABCC12	94160	broad.mit.edu	37	chr16	48138236	48138236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacggttcattagcctgCcagtgggagtcgtgtcaaag	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48138236C>T	ENST00000311303.3	-	20	3062	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	906	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATTAGCCTGCCAGTGGGAGT	0.473																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2716-2718)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							117	111	113					16																	48138236		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138236C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2717G>A	16.37:g.48138236C>T	ENSP00000311030:p.Gly906Asp					ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	p.G906D	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			20	3062	-		all_cancers(37;0.0474)|all_lung(18;0.047)	906			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2717G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910898	0.92178	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.97772	-4.53	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.103764	0.64402	D	0.000003	D	0.99089	0.9687	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	16.4256	0.83813	0.0:1.0:0.0:0.0	.	906	Q96J65	MRP9_HUMAN	D	906;824	ENSP00000311030:G906D	ENSP00000311030:G906D	G	-	2	0	ABCC12	46695737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.840000	0.75369	2.594000	0.87642	0.655000	0.94253	GGC		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		16	611	0	0	0	1	0	16	611					T	48138236	C	T	48138236	3	4	79	1	0	0	0	0	1	0	0	0	52	739	26	2	1402	2	ABCC12	16	48138236	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13205	48138236	42216517	16263	26580											
ABCC12	94160	broad.mit.edu	37	chr16	48149406	48149406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagacgtgcttccccaCgtgggcgtccacggccgaca	11	16	1	1	rs147110729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48149406C>T	ENST00000311303.3	-	13	2254	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	637	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGCTTCCCCACGTGGGCGTCC	0.622																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1909-1911)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							135	123	127					16																	48149406		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149406C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1909G>A	16.37:g.48149406C>T	ENSP00000311030:p.Val637Met					ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	p.V637M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			13	2254	-		all_cancers(37;0.0474)|all_lung(18;0.047)	637			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1909G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937206	0.52972	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81078	-1.45;-1.45	5.24	4.28	0.50868	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88899	0.3351	10	0.87932	D	0	.	14.5334	0.67942	0.1479:0.852:0.0:0.0	.	637	Q96J65	MRP9_HUMAN	M	637;637;579	ENSP00000311030:V637M;ENSP00000401855:V637M	ENSP00000311030:V637M	V	-	1	0	ABCC12	46706907	1.000000	0.71417	0.973000	0.42090	0.012000	0.07955	4.659000	0.61504	1.323000	0.45263	-0.470000	0.05040	GTG		0.622	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	649	0	0	0	1	0	12	649					T	48149406	C	T	48149406	3	4	79	1	0	0	0	0	1	0	0	0	52	536	19	1	2238	1	ABCC12	16	48149406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11170	48149406	42205347	16264	26581											
ABCC11	85320	broad.mit.edu	37	chr16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacaatcaacaggacggCgatcaccattaaggacagga	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AACAGGACGGCGATCACCATT	0.463																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2848-2850)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							104	87	93					16																	48221197		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221197C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2848G>A	16.37:g.48221197C>T	ENSP00000378230:p.Ala950Thr					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T	p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			20	3197	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	950			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2848G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700967	0.68501	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.0	-10.0	0.00425	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.985385	0.08272	N	0.971317	D	0.85678	0.5752	M	0.68317	2.08	0.09310	N	1	B;P	0.38020	0.098;0.615	B;B	0.40199	0.008;0.322	T	0.75311	-0.3362	10	0.33940	T	0.23	0.3528	6.9598	0.24591	0.2208:0.4704:0.0:0.3088	.	950;950	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	950	ENSP00000311326:A950T;ENSP00000349017:A950T;ENSP00000378231:A950T;ENSP00000378230:A950T	ENSP00000311326:A950T	A	-	1	0	ABCC11	46778698	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-2.090000	0.00859	0.563000	0.77884	GCC		0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		43	263	0	0	0	1	0	43	263					T	48221197	C	T	48221197	3	4	79	1	0	0	0	0	1	0	0	0	51	768	27	1	1340	1	ABCC11	16	48221197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71791	48221197	42133556	16265	26582											
LONP2	83752	broad.mit.edu	37	chr16	48290601	48290601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcttccaagggaagctttAccagacatcttgacatcaat	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(547-549)ttA>ttG		lon peptidase 2, peroxisomal							108	106	107					16																	48290601		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48290601A>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.549A>G	16.37:g.48290601A>G						LONP2_ENST00000535754.1_Intron	p.L183L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			3	642	+			183			Lon.			Silent	SNP	ENST00000285737.4	37	c.549A>G	CCDS10734.1																																																																																				0.403	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		15	345	0	0	0	1	0	15	345					G	48290601	A	G	48290601	2	3	79	1	0	0	0	0	0	0	0	1	8931	388	14	4		4	LONP2	16	48290601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69404	48290601	42064152	16266	26583											
LONP2	83752	broad.mit.edu	37	chr16	48381426	48381426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctttcaaggtatctcaGcgtttgagtcagccaggagt	10	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1945-1947)caG>caA		lon peptidase 2, peroxisomal							131	135	134					16																	48381426		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48381426G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1947G>A	16.37:g.48381426G>A						LONP2_ENST00000535754.1_Silent_p.Q605Q	p.Q649Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			13	2040	+			649						Silent	SNP	ENST00000285737.4	37	c.1947G>A	CCDS10734.1																																																																																				0.498	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		73	381	0	0	0	1	0	73	381					A	48381426	G	A	48381426	2	1	79	1	0	0	0	0	0	0	0	1	8931	962	34	2		2	LONP2	16	48381426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90825	48381426	41973327	16267	26584											
LONP2	83752	broad.mit.edu	37	chr16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcactttttagtgggcGgctggtacgttcagatgtag	13	9	2	1	rs199759503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2275-2277)cGg>cAg		lon peptidase 2, peroxisomal							141	140	140					16																	48382140		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48382140G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2276G>A	16.37:g.48382140G>A	ENSP00000285737:p.Arg759Gln					LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q|LONP2_ENST00000564259.1_3'UTR	p.R759Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			14	2369	+			759						Missense_Mutation	SNP	ENST00000285737.4	37	c.2276G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648787	0.96714	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.60845	1.875	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.44447	0.45;0.45	T	0.02829	-1.1105	10	0.25751	T	0.34	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	759;488;715	ENSP00000285737:R759Q;ENSP00000445426:R715Q	ENSP00000285737:R759Q	R	+	2	0	LONP2	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG		0.423	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		139	651	0	0	0	1	0	139	651					A	48382140	G	A	48382140	3	1	79	1	0	0	0	0	1	0	0	0	8931	1116	39	1	2330	1	LONP2	16	48382140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	48382140	41972613	16268	26585											
LONP2	83752	broad.mit.edu	37	chr16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaaagacaaagtgctggCggcacacagagcgggactga	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.A745V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2365-2367)gCg>gTg		lon peptidase 2, peroxisomal							61	64	63					16																	48385520		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48385520C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2366C>T	16.37:g.48385520C>T	ENSP00000285737:p.Ala789Val					LONP2_ENST00000535754.1_Missense_Mutation_p.A745V|LONP2_ENST00000564259.1_3'UTR	p.A789V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			15	2459	+			789						Missense_Mutation	SNP	ENST00000285737.4	37	c.2366C>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721766	0.96839	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87938	0.2715	10	0.87932	D	0	-18.7393	20.3938	0.98981	0.0:1.0:0.0:0.0	.	745;789	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	789;518;745	ENSP00000285737:A789V;ENSP00000445426:A745V	ENSP00000285737:A789V	A	+	2	0	LONP2	46943021	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	7.786000	0.85741	2.831000	0.97527	0.585000	0.79938	GCG		0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		56	222	0	0	0	1	0	56	222					T	48385520	C	T	48385520	3	4	79	1	0	0	0	0	1	0	0	0	8931	768	27	1	2424	1	LONP2	16	48385520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3380	48385520	41969233	16269	26586											
N4BP1	9683	broad.mit.edu	37	chr16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgacattaggatcacGccttgttctccactgaggga	10	11	2	2	rs377500906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C	N4BP1_ENST00000565423.1_5'Flank	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	668					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(2002-2004)Cgt>Tgt		NEDD4 binding protein 1		G	CYS/ARG	0,3780		0,0,1890	66	61	63		2002	5.9	0.9	16		63	1,8241		0,1,4120	no	missense	N4BP1	NM_153029.3	180	0,1,6010	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	668/897	48587468	1,12021	1890	4121	6011	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48587468G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2002C>T	16.37:g.48587468G>A	ENSP00000262384:p.Arg668Cys						p.R668C	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			3	2238	-		all_cancers(37;0.179)|all_lung(18;0.11)	668					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.2002C>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829345	0.71258	0.0	1.21E-4	ENSG00000102921	ENST00000262384	T	0.44881	0.91	5.93	5.93	0.95920	Ribonuclease Zc3h12a-like (1);	0.048713	0.85682	D	0.000000	T	0.64305	0.2586	M	0.71581	2.175	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.64778	-0.6327	10	0.62326	D	0.03	-17.7326	15.8935	0.79318	0.0:0.0:0.8641:0.1359	.	668	O75113	N4BP1_HUMAN	C	668	ENSP00000262384:R668C	ENSP00000262384:R668C	R	-	1	0	N4BP1	47144969	0.996000	0.38824	0.925000	0.36789	0.994000	0.84299	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	CGT		0.363	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		26	92	0	0	0	1	0	26	92					A	48587468	G	A	48587468	3	1	79	1	0	0	0	0	1	0	0	0	10150	1087	38	1	708	1	N4BP1	16	48587468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201948	48587468	41767285	16270	26587											
C16orf78	123970	broad.mit.edu	37	chr16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgctgaagataggcGcatgtctgacctcacctgtg	12	10	2	4	rs144505396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20790	0.0		0.0	False		,,,				2504	0.0					ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(79-81)cGc>cAc		chromosome 16 open reading frame 78		G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141	124	130		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG		0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407930G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.80G>A	16.37:g.49407930G>A	ENSP00000299191:p.Arg27His						p.R27H	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			1	197	+			27						Missense_Mutation	SNP	ENST00000299191.3	37	c.80G>A	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		80	469	0	0	0	1	0	80	469					A	49407930	G	A	49407930	3	1	79	1	0	0	0	0	1	0	0	0	1840	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820462	49407930	40946823	16271	26588											
C16orf78	123970	broad.mit.edu	37	chr16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatccaaggagaacattcGgaccttgctcaagttgtgca	10	9	1	1	rs182553423	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		20957	0.002		0.0	False		,,,				2504	0.0					ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(679-681)cGg>cAg		chromosome 16 open reading frame 78							128	106	113					16																	49433071		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49433071G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.680G>A	16.37:g.49433071G>A	ENSP00000299191:p.Arg227Gln						p.R227Q	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			5	797	+			227						Missense_Mutation	SNP	ENST00000299191.3	37	c.680G>A	CCDS10738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.16	1.557611	0.27827	.	.	ENSG00000166152	ENST00000299191	T	0.52983	0.64	5.47	0.731	0.18277	.	1.434460	0.04753	N	0.424991	T	0.41719	0.1171	L	0.54323	1.7	0.09310	N	1	P	0.46952	0.887	B	0.39258	0.295	T	0.36529	-0.9744	9	.	.	.	-25.0095	6.4856	0.22087	0.6281:0.0:0.3719:0.0	.	227	Q8WTQ4	CP078_HUMAN	Q	227	ENSP00000299191:R227Q	.	R	+	2	0	C16orf78	47990572	0.006000	0.16342	0.049000	0.19019	0.561000	0.35649	0.752000	0.26362	0.202000	0.20498	0.561000	0.74099	CGG		0.448	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		61	288	0	0	0	1	0	61	288					A	49433071	G	A	49433071	3	1	79	1	0	0	0	0	1	0	0	0	1840	1116	39	1	698	1	C16orf78	16	49433071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25141	49433071	40921682	16272	26589											
ZNF423	23090	broad.mit.edu	37	chr16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagatcttgtcctcctgccCgtgcacggcaaagatgtgct	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1253W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCCTGCCCGTGCACGGCA	0.612																																						ENST00000561648.1																			2	Substitution - Missense(2)	p.G1253W(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3757-3759)Ggg>Agg		zinc finger protein 423							173	119	137					16																	49557603		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49557603C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3757G>A	16.37:g.49557603C>T	ENSP00000455426:p.Gly1253Arg					ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R	p.G1253R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			7	3810	-		all_cancers(37;0.0155)	1253					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3757G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		10	260	0	0	0	1	0	10	260					T	49557603	C	T	49557603	3	4	79	1	0	0	0	0	1	0	0	0	17951	652	23	1	105	1	ZNF423	16	49557603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124532	49557603	40797150	16273	26590											
ZNF423	23090	broad.mit.edu	37	chr16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacccacctgtccgttggCgctgcgggccatgcagccgg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCCGTTGGCGCTGCGGGCC	0.697																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3298-3300)Gcc>Acc		zinc finger protein 423							16	18	17					16																	49669765		2196	4293	6489	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669765C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3298G>A	16.37:g.49669765C>T	ENSP00000455426:p.Ala1100Thr					ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T	p.A1100T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3351	-		all_cancers(37;0.0155)	1100					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3298G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408956	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07800	3.16;3.18	5.16	1.7	0.24286	.	0.098188	0.64402	D	0.000002	T	0.02083	0.0065	N	0.01576	-0.805	0.31995	N	0.604178	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	.	.	.	-16.2003	2.3233	0.04216	0.3978:0.3609:0.0:0.2413	.	1100	Q2M1K9	ZN423_HUMAN	T	1100;983	ENSP00000262383:A1100T;ENSP00000442321:A983T	.	A	-	1	0	ZNF423	48227266	0.997000	0.39634	0.832000	0.32986	0.886000	0.51366	1.701000	0.37825	0.557000	0.29117	0.561000	0.74099	GCC		0.697	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		41	194	0	0	0	1	0	41	194					T	49669765	C	T	49669765	3	4	79	1	0	0	0	0	1	0	0	0	17951	768	27	1	576	1	ZNF423	16	49669765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112162	49669765	40684988	16274	26591											
ZNF423	23090	broad.mit.edu	37	chr16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggcatcttgcagatgCgacaggtgcccgtgtccagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	991					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCAGATGCGACAGGTGCC	0.597																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2971-2973)cGc>cAc		zinc finger protein 423							55	50	51					16																	49670091		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670091C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2972G>A	16.37:g.49670091C>T	ENSP00000455426:p.Arg991His					ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H	p.R991H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3025	-		all_cancers(37;0.0155)	991					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2972G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523857	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09911	2.93;2.97	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.24115	0.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.07501	-1.0769	9	.	.	.	-48.8797	17.8857	0.88854	0.0:1.0:0.0:0.0	.	991	Q2M1K9	ZN423_HUMAN	H	991;874	ENSP00000262383:R991H;ENSP00000442321:R874H	.	R	-	2	0	ZNF423	48227592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.234000	0.73211	0.561000	0.74099	CGC		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		40	177	0	0	0	1	0	40	177					T	49670091	C	T	49670091	3	4	79	1	0	0	0	0	1	0	0	0	17951	768	27	1	902	1	ZNF423	16	49670091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326	49670091	40684662	16275	26592											
HEATR3	55027	broad.mit.edu	37	chr16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctggttgcgctgctaaaaGaggtatgcagtttttacagt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	133										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(397-399)Gag>Tag		HEAT repeat containing 3							262	231	241					16																	50102776		2198	4300	6498	SO:0001587	stop_gained	55027						binding	g.chr16:50102776G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.397G>T	16.37:g.50102776G>T	ENSP00000299192:p.Glu133*					HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*	p.E133*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			3	588	+			133					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	37	c.397G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	36	5.720586	0.96839	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.44	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4935	0.75632	0.0:0.0:0.8603:0.1397	.	.	.	.	X	47;133	.	ENSP00000285767:E47X	E	+	1	0	HEATR3	48660277	1.000000	0.71417	0.964000	0.40570	0.617000	0.37484	8.696000	0.91302	1.274000	0.44362	0.655000	0.94253	GAG		0.388	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		157	636	1	0	1.57643e-78	1	2.01367e-78	157	636					T	50102776	G	T	50102776	4	4	79	1	0	0	0	0	0	1	0	0	7059	943	33	3	407	3	HEATR3	16	50102776	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432685	50102776	40251977	16276	26593											
HEATR3	55027	broad.mit.edu	37	chr16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctattgagaacatagCcaatgagactgtgaacgtgc	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	160										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(478-480)gCc>gTc		HEAT repeat containing 3							106	97	100					16																	50104168		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50104168C>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.479C>T	16.37:g.50104168C>T	ENSP00000299192:p.Ala160Val					HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	p.A160V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			4	670	+			160					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.479C>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483595	0.84854	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.63913	-0.07;-0.07	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.55481	1.735	0.80722	D	1	P;D	0.89917	0.885;1.0	P;D	0.83275	0.465;0.996	T	0.64441	-0.6407	10	0.06757	T	0.87	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	74;160	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	74;160	ENSP00000285767:A74V;ENSP00000299192:A160V	ENSP00000285767:A74V	A	+	2	0	HEATR3	48661669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.510000	0.73729	2.861000	0.98227	0.655000	0.94253	GCC		0.408	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		41	238	0	0	0	1	0	41	238					T	50104168	C	T	50104168	3	4	79	1	0	0	0	0	1	0	0	0	7059	739	26	2	493	2	HEATR3	16	50104168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1392	50104168	40250585	16277	26594											
HEATR3	55027	broad.mit.edu	37	chr16	50106618	50106618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaatgttgacctggctatTtcagtaggtaagtgaagaaa	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50106618T>G	ENST00000299192.7	+	5	806	c.615T>G	c.(613-615)atT>atG	p.I205M	HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	205										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACCTGGCTATTTCAGTAGGTA	0.358																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(613-615)atT>atG		HEAT repeat containing 3							174	161	165					16																	50106618		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50106618T>G	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.615T>G	16.37:g.50106618T>G	ENSP00000299192:p.Ile205Met					HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	p.I205M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			5	806	+			205					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.615T>G	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428511	0.43122	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.39406	1.08;1.08	5.65	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.142732	0.64402	D	0.000012	T	0.53174	0.1780	M	0.74258	2.255	0.39974	D	0.974838	P;P	0.46512	0.879;0.624	P;B	0.53593	0.73;0.4	T	0.53872	-0.8377	10	0.51188	T	0.08	.	8.7871	0.34827	0.0:0.1608:0.0:0.8392	.	119;205	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	M	119;205	ENSP00000285767:I119M;ENSP00000299192:I205M	ENSP00000285767:I119M	I	+	3	3	HEATR3	48664119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.779000	0.26746	0.508000	0.28173	0.533000	0.62120	ATT		0.358	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		11	291	0	0	0	1	0	11	291					G	50106618	T	G	50106618	3	3	79	1	0	0	0	0	1	0	0	0	7059	1829	64	4	633	4	HEATR3	16	50106618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2450	50106618	40248135	16278	26595											
HEATR3	55027	broad.mit.edu	37	chr16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaagaagggagaggtaaCtatagcacagatcagctgtg	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	648										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1942-1944)aaC>aaA		HEAT repeat containing 3							119	124	122					16																	50138873		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50138873C>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1944C>A	16.37:g.50138873C>A	ENSP00000299192:p.Asn648Lys					HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	p.N648K	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			15	2135	+			648					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1944C>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698907	0.03279	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.38560	1.13;1.19	5.88	-2.38	0.06622	.	0.142339	0.64402	N	0.000009	T	0.06462	0.0166	N	0.00237	-1.79	0.23107	N	0.998284	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.02654	T	1	.	2.3785	0.04348	0.5172:0.2099:0.1745:0.0985	.	562;648	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	562;648	ENSP00000285767:N562K;ENSP00000299192:N648K	ENSP00000285767:N562K	N	+	3	2	HEATR3	48696374	0.997000	0.39634	0.041000	0.18516	0.791000	0.44710	0.605000	0.24179	-0.777000	0.04572	-1.103000	0.02113	AAC		0.294	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		30	358	1	0	1.26612e-14	1	1.37737e-14	30	358					A	50138873	C	A	50138873	3	1	79	1	0	0	0	0	1	0	0	0	7059	564	20	3	2002	3	HEATR3	16	50138873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32255	50138873	40215880	16279	26596											
ADCY7	113	broad.mit.edu	37	chr16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcaaccaccgtgagagcGtgagcagtggtgagacccac	12	12	1	3	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M			P51828	ADCY7_HUMAN	adenylate cyclase 7	506					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCGTGAGAGCGTGAGCAGTGG	0.677																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1516-1518)Gtg>Atg		adenylate cyclase 7	Bromocriptine(DB01200)						57	60	59					16																	50338418		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50338418G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1516G>A	16.37:g.50338418G>A	ENSP00000378187:p.Val506Met					ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M	p.V506M			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	11	1856	+		all_cancers(37;0.0127)	506					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1516G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500671	0.04261	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	4.84	3.85	0.44370	.	0.219761	0.21876	U	0.067804	T	0.67487	0.2898	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.33299	0.231;0.407	B;B	0.29598	0.104;0.063	T	0.69884	-0.5024	10	0.44086	T	0.13	.	14.2036	0.65721	0.0:0.1916:0.8084:0.0	.	506;506	P51828;F5H4D1	ADCY7_HUMAN;.	M	506	ENSP00000445046:V506M;ENSP00000378187:V506M;ENSP00000254235:V506M	ENSP00000254235:V506M	V	+	1	0	ADCY7	48895919	0.938000	0.31826	0.732000	0.30844	0.037000	0.13140	1.432000	0.34936	2.215000	0.71742	0.491000	0.48974	GTG		0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			84	410	0	0	0	1	0	84	410					A	50338418	G	A	50338418	3	1	79	1	0	0	0	0	1	0	0	0	299	1145	40	1	1554	1	ADCY7	16	50338418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199545	50338418	40016335	16280	26597											
ADCY7	113	broad.mit.edu	37	chr16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggagcggcagcatGcccacattggtgtcatggtg	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGGCAGCATGCCCACATTGG	0.617																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(2875-2877)Gcc>Acc		adenylate cyclase 7	Bromocriptine(DB01200)						91	66	74					16																	50348221		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50348221G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2875G>A	16.37:g.50348221G>A	ENSP00000378187:p.Ala959Thr					ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T	p.A959T			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	24	3215	+		all_cancers(37;0.0127)	959			Guanylate cyclase 2.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2875G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368059	0.24771	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29397	1.57;1.57	4.95	1.89	0.25635	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.156878	0.29059	U	0.013273	T	0.19327	0.0464	N	0.25380	0.74	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.06826	-1.0805	10	0.20519	T	0.43	.	10.9179	0.47148	0.1706:0.0:0.8294:0.0	.	959	P51828	ADCY7_HUMAN	T	959	ENSP00000378187:A959T;ENSP00000254235:A959T	ENSP00000254235:A959T	A	+	1	0	ADCY7	48905722	0.997000	0.39634	0.324000	0.25361	0.928000	0.56348	3.267000	0.51577	0.278000	0.22164	0.650000	0.86243	GCC		0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			33	241	0	0	0	1	0	33	241					A	50348221	G	A	50348221	3	1	79	1	0	0	0	0	1	0	0	0	299	1319	46	2	2965	2	ADCY7	16	50348221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9803	50348221	40006532	16281	26598											
BRD7	29117	broad.mit.edu	37	chr16	50402680	50402680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttcttgtgcttcttGcccatgtccgaccgggcccc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	BRD7_ENST00000394689.2_Silent_p.G2G|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	2					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(4-6)ggC>ggT		bromodomain containing 7							24	23	24					16																	50402680		2179	4254	6433	SO:0001819	synonymous_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50402680G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.6C>T	16.37:g.50402680G>A						BRD7_ENST00000401491.3_5'UTR|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Silent_p.G2G	p.G2G			Q9NPI1	BRD7_HUMAN			1	165	-		all_cancers(37;0.0127)	2					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	37	c.6C>T	CCDS10742.1																																																																																				0.771	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		51	203	0	0	0	1	0	51	203					A	50402680	G	A	50402680	2	1	79	1	0	0	0	0	0	0	0	1	1509	1306	46	2		2	BRD7	16	50402680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54459	50402680	39952073	16282	26599											
NKD1	85407	broad.mit.edu	37	chr16	50583467	50583467	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataggccgaagcacccggGtatgattccccacccctgcc	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		RP11-401P9.1_ENST00000569940.2_RNA|NKD1_ENST00000564336.1_Splice_Site	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.e3+1		naked cuticle homolog 1 (Drosophila)							18	19	18					16																	50583467		2196	4299	6495	SO:0001630	splice_region_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50583467G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.192+1G>A	16.37:g.50583467G>A						NKD1_ENST00000564336.1_Splice_Site		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	3	416	+		all_cancers(37;0.229)						B2RC39|Q8WZ08	Splice_Site	SNP	ENST00000268459.3	37		CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924349	0.52653	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3982	0.60868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKD1	49140968	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.869000	0.63028	2.263000	0.75096	0.313000	0.20887	.		0.652	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		Intron	15	80	0	0	0	1	0	15	80					A	50583467	G	A	50583467	5	1	79	1	0	0	0	0	0	0	1	0	10483	1275	44	2	203	2	NKD1	16	50583467	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180787	50583467	39771286	16283	26600											
NKD1	85407	broad.mit.edu	37	chr16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctccagcaacggctccGgggcacccaggacgggagca	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1006-1008)cGg>cAg		naked cuticle homolog 1 (Drosophila)							72	83	79					16																	50667286		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667286G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1007G>A	16.37:g.50667286G>A	ENSP00000268459:p.Arg336Gln						p.R336Q	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1231	+		all_cancers(37;0.229)	336					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1007G>A	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308309	0.81247	.	.	ENSG00000140807	ENST00000268459	T	0.69435	-0.4	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.79851	0.4517	M	0.74881	2.28	0.46586	D	0.999114	D	0.76494	0.999	D	0.65323	0.934	T	0.82922	-0.0217	10	0.72032	D	0.01	-23.2055	15.4353	0.75140	0.0:0.0:1.0:0.0	.	336	Q969G9	NKD1_HUMAN	Q	336	ENSP00000268459:R336Q	ENSP00000268459:R336Q	R	+	2	0	NKD1	49224787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.636000	0.74299	2.297000	0.77311	0.585000	0.79938	CGG		0.642	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			105	528	0	0	0	1	0	105	528					A	50667286	G	A	50667286	3	1	79	1	0	0	0	0	1	0	0	0	10483	1116	39	1	1045	1	NKD1	16	50667286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83819	50667286	39687467	16284	26601											
NOD2	64127	broad.mit.edu	37	chr16	50733613	50733613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccgtctggaataagggTacttgggcctgtcagaagct	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAATAAGGGTACTTGGGCCT	0.657																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(286-288)ggT>ggC		nucleotide-binding oligomerization domain containing 2							36	40	39					16																	50733613		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733613T>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.288T>C	16.37:g.50733613T>C						NOD2_ENST00000526417.2_3'UTR	p.G96G	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	393	+		all_cancers(37;0.0156)	96			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.288T>C	CCDS10746.1																																																																																				0.657	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		16	382	0	0	0	1	0	16	382					C	50733613	T	C	50733613	2	2	79	1	0	0	0	0	0	0	0	1	10559	1625	57	4		4	NOD2	16	50733613	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66327	50733613	39621140	16285	26602											
NOD2	64127	broad.mit.edu	37	chr16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctgtacctgaggaagcGccatcatgagcccggggtgg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1375-1377)cGc>cAc		nucleotide-binding oligomerization domain containing 2							68	72	70					16																	50745198		2198	4299	6497	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745198G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1376G>A	16.37:g.50745198G>A	ENSP00000300589:p.Arg459His						p.R459H	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1481	+		all_cancers(37;0.0156)	459			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1376G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470983	0.01044	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78003	-1.14	5.12	2.32	0.28847	.	0.954894	0.08725	N	0.902954	T	0.51958	0.1705	N	0.03948	-0.315	0.25087	N	0.990887	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.0;0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	6.681	0.23119	0.5308:0.0:0.4692:0.0	.	243;432;459	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	H	432;459	ENSP00000300589:R459H	ENSP00000300589:R459H	R	+	2	0	NOD2	49302699	0.712000	0.27916	0.723000	0.30687	0.042000	0.13812	3.150000	0.50662	0.267000	0.21916	0.561000	0.74099	CGC		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		67	590	0	0	0	1	0	67	590					A	50745198	G	A	50745198	3	1	79	1	0	0	0	0	1	0	0	0	10559	1087	38	1	1390	1	NOD2	16	50745198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11585	50745198	39609555	16286	26603											
NOD2	64127	broad.mit.edu	37	chr16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-													caggaactgttgctgcaggaGggggggtccccaaagaccac					rs104895434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745331delG	ENST00000300589.2	+	4	1614	c.1509delG	c.(1507-1509)gagfs	p.E503fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGCAGGAGGGGGGGTCCC	0.577																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1507-1509)gafs		nucleotide-binding oligomerization domain containing 2				5,4259		0,5,2127	63	65	64			0.5	0	16		64	7,8245		0,7,4119	no	frameshift	NOD2	NM_022162.1		0,12,6246	A1A1,A1R,RR		0.0848,0.1173,0.0959			50745331	12,12504	2198	4300	6498	SO:0001589	frameshift_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745331delG	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1509delG	16.37:g.50745331delG	ENSP00000300589:p.Glu503fs						p.E503fs	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1614	+		all_cancers(37;0.0156)	503			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	ENST00000300589.2	37	c.1509delG	CCDS10746.1																																																																																				0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		9	698						9	698	---	---	---	---	-	50745331	G	-	50745331	7	5	79	1	0	1	0	1	0	0	0	0	10559	991	35	0	1523	0	NOD2	16	50745331	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	133	50745331	39609422	16287	26604											
NOD2	64127	broad.mit.edu	37	chr16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagactggctctgtgggGcctgggcatgtgctgctacg	18	10	1	1	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	557	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1669-1671)gGc>gAc		nucleotide-binding oligomerization domain containing 2							34	34	34					16																	50745492		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745492G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1670G>A	16.37:g.50745492G>A	ENSP00000300589:p.Gly557Asp						p.G557D	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1775	+		all_cancers(37;0.0156)	557			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1670G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593940	0.66219	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000008	D	0.88804	0.6536	M	0.93106	3.38	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91025	0.4860	10	0.66056	D	0.02	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	341;530;557	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	D	530;557	ENSP00000300589:G557D	ENSP00000300589:G557D	G	+	2	0	NOD2	49302993	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.344000	0.65981	2.399000	0.81585	0.556000	0.70494	GGC		0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		49	188	0	0	0	1	0	49	188					A	50745492	G	A	50745492	3	1	79	1	0	0	0	0	1	0	0	0	10559	1203	42	2	1684	2	NOD2	16	50745492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	50745492	39609261	16288	26605											
NOD2	64127	broad.mit.edu	37	chr16	50746021	50746021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgaggccaagagcgtGcatgccatgcccgggttcat	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	733					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2197-2199)gtG>gtA		nucleotide-binding oligomerization domain containing 2							62	54	57					16																	50746021		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746021G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2199G>A	16.37:g.50746021G>A							p.V733V	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	2304	+		all_cancers(37;0.0156)	733					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2199G>A	CCDS10746.1																																																																																				0.677	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		65	305	0	0	0	1	0	65	305					A	50746021	G	A	50746021	2	1	79	1	0	0	0	0	0	0	0	1	10559	1306	46	2		2	NOD2	16	50746021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	50746021	39608732	16289	26606											
CYLD	1540	broad.mit.edu	37	chr16	50815323	50815323	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgctgtaactctttagGtatttggatgctttttgttt	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000427738.3	+	9	1889		c.e9+1		CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000568704.2_Intron|RP11-327F22.4_ENST00000575917.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AACTCTTTAGGTATTTGGATG	0.383			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.e10+1		cylindromatosis (turban tumor syndrome)							107	98	101					16																	50815323		1882	4115	5997	SO:0001630	splice_region_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815323G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1684+1G>T	16.37:g.50815323G>T						CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000427738.3_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000568704.2_Intron				Q9NQC7	CYLD_HUMAN			10	2099	+		all_cancers(37;0.0156)						O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	ENST00000427738.3	37		CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750995	0.89753	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49372824	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.414000	0.97362	2.836000	0.97738	0.655000	0.94253	.		0.383	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		Intron	45	227	1	0	4.14194e-30	1	4.85262e-30	45	227					T	50815323	G	T	50815323	5	4	79	1	0	0	0	0	0	0	1	0	4154	1275	44	3	1715	3	CYLD	16	50815323	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69302	50815323	39539430	16290	26607											
SALL1	6299	broad.mit.edu	37	chr16	51174870	51174870	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctttgctgggccaaGgcagacaaggagtttaaatc	10	8	1	1	rs554599187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000251020.4	-	2	1296	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.A324A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	421					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)			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)			GCTGGGCCAAGGCAGACAAGG	0.493																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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	GRCh37	CD054417	SALL1	D		c.(970-972)gcC>gcA		spalt-like transcription factor 1							101	102	102					16																	51174870		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.chr16:51174870G>T	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.1263C>A	16.37:g.51174870G>T						SALL1_ENST00000251020.4_Silent_p.A421A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.A324A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1403	-		all_cancers(37;0.0322)	421					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.972C>A	CCDS10747.1																																																																																				0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		101	492	1	0	2.14978e-47	1	2.64632e-47	101	492					T	51174870	G	T	51174870	2	4	79	1	0	0	0	0	0	0	0	1	13860	987	35	3		3	SALL1	16	51174870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359547	51174870	39179883	16291	26608											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		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.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	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.chr16:51175656_51175658delGCT	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.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	346						9	346	---	---	---	---	-	51175658	GCT	-	51175656	7	5	79	1	0	1	0	1	0	0	0	0	13860	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	786	51175656	39179097	16292	26609											
TOX3	27324	broad.mit.edu	37	chr16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacttgggtggagggtgCtgagccaaccatggtcgttc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	427					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1279-1281)Gca>Aca		TOX high mobility group box family member 3							123	120	121					16																	52473589		2185	4294	6479	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473589C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1279G>A	16.37:g.52473589C>T	ENSP00000219746:p.Ala427Thr					TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	p.A427T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1563	-			427					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.1279G>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	2.332	-0.353204	0.05173	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10099	2.94;2.91	5.85	2.76	0.32466	.	0.618951	0.16793	N	0.199299	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42103	-0.9471	10	0.12766	T	0.61	.	2.7183	0.05194	0.1109:0.4213:0.2926:0.1752	.	422;427	B4DRD0;O15405	.;TOX3_HUMAN	T	427;422	ENSP00000219746:A427T;ENSP00000385705:A422T	ENSP00000219746:A427T	A	-	1	0	TOX3	51031090	0.332000	0.24722	0.009000	0.14445	0.739000	0.42172	1.266000	0.33039	0.813000	0.34350	0.655000	0.94253	GCA		0.532	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		69	289	0	0	0	1	0	69	289					T	52473589	C	T	52473589	3	4	79	1	0	0	0	0	1	0	0	0	16432	797	28	2	455	2	TOX3	16	52473589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1297933	52473589	37881164	16293	26610											
CHD9	80205	broad.mit.edu	37	chr16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggcacaccatgactttGccttatttcaggccaatgaa	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000398510.3	+	1	574	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000566029.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000447540.1_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	163					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCATGACTTTGCCTTATTTCA	0.398																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(487-489)Gcc>Acc		chromodomain helicase DNA binding protein 9							86	84	84					16																	53190488		1931	4140	6071	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190488G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.487G>A	16.37:g.53190488G>A	ENSP00000381522:p.Ala163Thr					CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000398510.3_Missense_Mutation_p.A163T	p.A163T			Q3L8U1	CHD9_HUMAN			2	696	+		all_cancers(37;0.0212)	163					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	10.23	1.294011	0.23564	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86230	-2.01;-2.09	5.86	3.92	0.45320	.	0.194774	0.35805	N	0.002969	T	0.79347	0.4430	L	0.31294	0.92	0.32306	N	0.564381	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.002;0.006;0.004	T	0.76971	-0.2761	10	0.49607	T	0.09	-0.801	10.0684	0.42317	0.2052:0.0:0.7948:0.0	.	163;163;163;163	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	163	ENSP00000396345:A163T;ENSP00000381522:A163T	ENSP00000381522:A163T	A	+	1	0	CHD9	51747989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	0.829000	0.34733	-0.145000	0.13849	GCC		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		22	448	0	0	0	1	0	22	448					A	53190488	G	A	53190488	3	1	79	1	0	0	0	0	1	0	0	0	3341	1319	46	2	489	2	CHD9	16	53190488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716899	53190488	37164265	16294	26611											
CHD9	80205	broad.mit.edu	37	chr16	53191042	53191042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcatcacatcctcagggTaattatagcaattcaaaatt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000398510.3	+	1	1128	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000566029.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000447540.1_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	347					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCCTCAGGGTAATTATAGCA	0.358																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1039-1041)ggT>ggC		chromodomain helicase DNA binding protein 9							42	39	40					16																	53191042		1851	4096	5947	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53191042T>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1041T>C	16.37:g.53191042T>C						CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000398510.3_Silent_p.G347G	p.G347G			Q3L8U1	CHD9_HUMAN			2	1250	+		all_cancers(37;0.0212)	347					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.1041T>C																																																																																					0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		18	81	0	0	0	1	0	18	81					C	53191042	T	C	53191042	2	2	79	1	0	0	0	0	0	0	0	1	3341	1625	57	4		4	CHD9	16	53191042	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	554	53191042	37163711	16295	26612											
CHD9	80205	broad.mit.edu	37	chr16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaacaaagcagttaaaGtctacagactggtaactcgt	9	8	2	2	rs375430251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000398510.3	+	17	3994	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000566029.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1303	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGCAGTTAAAGTCTACAGACT	0.388																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3907-3909)Gtc>Atc		chromodomain helicase DNA binding protein 9		G	ILE/VAL	1,3715		0,1,1857	179	172	174		3907	5.5	1	16		174	0,8206		0,0,4103	no	missense	CHD9	NM_025134.4	29	0,1,5960	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	1303/2882	53288395	1,11921	1858	4103	5961	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288395G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3907G>A	16.37:g.53288395G>A	ENSP00000381522:p.Val1303Ile					CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000398510.3_Missense_Mutation_p.V1303I	p.V1303I			Q3L8U1	CHD9_HUMAN			18	4116	+		all_cancers(37;0.0212)	1303			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3907G>A		.	.	.	.	.	.	.	.	.	.	G	18.21	3.573962	0.65765	2.69E-4	0.0	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	Helicase, C-terminal (1);	0.000000	0.51477	D	0.000092	D	0.82788	0.5113	L	0.41124	1.26	0.80722	D	1	B;P;D;D	0.61697	0.068;0.678;0.984;0.99	B;B;D;D	0.73380	0.05;0.421;0.956;0.98	T	0.76961	-0.2765	10	0.13470	T	0.59	-8.3751	19.3515	0.94389	0.0:0.0:1.0:0.0	.	829;1303;1303;1303	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1303;1303;829	ENSP00000396345:V1303I;ENSP00000381522:V1303I	ENSP00000219084:V829I	V	+	1	0	CHD9	51845896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.580000	0.87095	0.650000	0.86243	GTC		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		128	632	0	0	0	1	0	128	632					A	53288395	G	A	53288395	3	1	79	1	0	0	0	0	1	0	0	0	3341	1029	36	2	3973	2	CHD9	16	53288395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97353	53288395	37066358	16296	26613											
CHD9	80205	broad.mit.edu	37	chr16	53326775	53326775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggagggtgataaagtatAttggcctactcaatcagctt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53326775A>G	ENST00000398510.3	+	28	5408	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD9_ENST00000566029.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1774					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATAAAGTATATTGGCCTACT	0.368																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5320-5322)tAt>tGt		chromodomain helicase DNA binding protein 9							122	114	116					16																	53326775		1886	4111	5997	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53326775A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5321A>G	16.37:g.53326775A>G	ENSP00000381522:p.Tyr1774Cys					CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000398510.3_Missense_Mutation_p.Y1774C	p.Y1774C			Q3L8U1	CHD9_HUMAN			29	5530	+		all_cancers(37;0.0212)	1774					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5321A>G		.	.	.	.	.	.	.	.	.	.	A	15.87	2.960762	0.53400	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91945	-2.94;-2.94	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000098	D	0.95567	0.8559	M	0.76328	2.33	0.80722	D	1	D;B;D;D	0.89917	0.999;0.103;0.999;1.0	D;B;D;D	0.85130	0.995;0.093;0.994;0.997	D	0.95318	0.8418	10	0.45353	T	0.12	-14.8435	15.3271	0.74172	1.0:0.0:0.0:0.0	.	142;1774;1774;1774	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	C	1774;1774;142	ENSP00000396345:Y1774C;ENSP00000381522:Y1774C	ENSP00000381522:Y1774C	Y	+	2	0	CHD9	51884276	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.869000	0.92326	2.023000	0.59567	0.482000	0.46254	TAT		0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		12	355	0	0	0	1	0	12	355					G	53326775	A	G	53326775	3	3	79	1	0	0	0	0	1	0	0	0	3341	449	16	4	5431	4	CHD9	16	53326775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38380	53326775	37027978	16297	26614											
CHD9	80205	broad.mit.edu	37	chr16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagtcttctgaagaagaatCtatgtcttctgtggaaacca	8	8	6	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000398510.3	+	30	6275	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000566029.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2063					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAGAAGAATCTATGTCTTCT	0.408																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6187-6189)tCt>tAt		chromodomain helicase DNA binding protein 9							36	34	34					16																	53338106		1840	4082	5922	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338106C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6188C>A	16.37:g.53338106C>A	ENSP00000381522:p.Ser2063Tyr					CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000398510.3_Missense_Mutation_p.S2063Y	p.S2063Y			Q3L8U1	CHD9_HUMAN			31	6397	+		all_cancers(37;0.0212)	2063					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6188C>A		.	.	.	.	.	.	.	.	.	.	C	19.52	3.843191	0.71488	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71934	-0.61;-0.61	6.16	6.16	0.99307	.	0.099037	0.45126	D	0.000383	D	0.83308	0.5226	L	0.57536	1.79	0.53005	D	0.999963	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.80764	0.986;0.935;0.986;0.994	T	0.82645	-0.0355	10	0.72032	D	0.01	-16.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2063;2063;2063;2063	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2063	ENSP00000396345:S2063Y;ENSP00000381522:S2063Y	ENSP00000381522:S2063Y	S	+	2	0	CHD9	51895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.256000	0.65468	2.937000	0.99478	0.650000	0.86243	TCT		0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		11	64	1	0	0.000673444	1	0.000681208	11	64					A	53338106	C	A	53338106	3	1	79	1	0	0	0	0	1	0	0	0	3341	913	32	3	6306	3	CHD9	16	53338106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11331	53338106	37016647	16298	26615											
RBL2	5934	broad.mit.edu	37	chr16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgctcctcccacacCtactcgcctcacaggtgcca	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	987	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2959-2961)cCt>cAt		retinoblastoma-like 2 (p130)							132	115	120					16																	53514557		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53514557C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2960C>A	16.37:g.53514557C>A	ENSP00000262133:p.Pro987His					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.P987H	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			20	3097	+			987			Domain B.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2960C>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871245	0.91587	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.67	5.67	0.87782	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.93;1.0	D	0.95414	0.8501	10	0.87932	D	0	-18.8095	19.7806	0.96414	0.0:1.0:0.0:0.0	.	697;987	E9PG04;Q08999	.;RBL2_HUMAN	H	987;697	ENSP00000262133:P987H	ENSP00000262133:P987H	P	+	2	0	RBL2	52072058	1.000000	0.71417	0.965000	0.40720	0.865000	0.49528	7.502000	0.81614	2.669000	0.90835	0.650000	0.86243	CCT		0.512	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		72	381	1	0	6.06247e-24	1	6.9123e-24	72	381					A	53514557	C	A	53514557	3	1	79	1	0	0	0	0	1	0	0	0	13160	681	24	3	3038	3	RBL2	16	53514557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176451	53514557	36840196	16299	26616											
RBL2	5934	broad.mit.edu	37	chr16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatccatttgtaagaacaGgctcccctcgccgaatacag	7	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1043					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3127-3129)Ggc>Agc		retinoblastoma-like 2 (p130)							77	68	71					16																	53515625		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53515625G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3127G>A	16.37:g.53515625G>A	ENSP00000262133:p.Gly1043Ser					RBL2_ENST00000544545.1_Splice_Site|RBL2_ENST00000379935.4_3'UTR	p.G1043S	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			21	3264	+			1043					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3127G>A	CCDS10748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367181|3.367181	0.61513|0.61513	.|.	.|.	ENSG00000103479|ENSG00000103479	ENST00000544545|ENST00000262133;ENST00000379935	.|T	.|0.53206	.|0.63	5.37|5.37	3.42|3.42	0.39159|0.39159	.|.	.|0.148324	.|0.64402	.|N	.|0.000011	.|T	.|0.30386	.|0.0763	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27498	.|0.017;0.18	.|B;B	.|0.23150	.|0.015;0.044	.|T	.|0.05194	.|-1.0900	.|10	.|0.22109	.|T	.|0.4	.|-5.3975	11.2464|11.2464	0.49000|0.49000	0.1955:0.0:0.8045:0.0|0.1955:0.0:0.8045:0.0	.|.	.|753;1043	.|E9PG04;Q08999	.|.;RBL2_HUMAN	.|S	-1|1043;753	.|ENSP00000262133:G1043S	.|ENSP00000262133:G1043S	.|G	+|+	.|1	.|0	RBL2|RBL2	52073126|52073126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.956000|4.956000	0.63645|0.63645	0.758000|0.758000	0.33059|0.33059	0.650000|0.650000	0.86243|0.86243	.|GGC		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		35	145	0	0	0	1	0	35	145					A	53515625	G	A	53515625	3	1	79	1	0	0	0	0	1	0	0	0	13160	1000	35	2	3209	2	RBL2	16	53515625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1068	53515625	36839128	16300	26617											
AKTIP	64400	broad.mit.edu	37	chr16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcttacttaatgcagAgcgataagatggctgcacat	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	102					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(304-306)Tct>Cct		AKT interacting protein							96	87	90					16																	53529183		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53529183A>G	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.304T>C	16.37:g.53529183A>G	ENSP00000378152:p.Ser102Pro					AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000394657.6_Missense_Mutation_p.S102P	p.S102P			Q9H8T0	AKTIP_HUMAN			5	521	-		all_cancers(37;0.14)	102					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.304T>C	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896442	0.91962	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.73152	-0.72;-0.72	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.051077	0.85682	D	0.000000	D	0.83862	0.5346	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.976	D;P;D	0.91635	0.999;0.885;0.936	D	0.85926	0.1449	10	0.87932	D	0	-4.2089	16.0135	0.80420	1.0:0.0:0.0:0.0	.	102;102;102	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	P	102	ENSP00000378152:S102P;ENSP00000300245:S102P	ENSP00000300245:S102P	S	-	1	0	AKTIP	52086684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.126000	0.94411	2.242000	0.73789	0.533000	0.62120	TCT		0.383	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		30	281	0	0	0	1	0	30	281					G	53529183	A	G	53529183	3	3	79	1	0	0	0	0	1	0	0	0	482	304	11	4	602	4	AKTIP	16	53529183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13558	53529183	36825570	16301	26618											
AKTIP	64400	broad.mit.edu	37	chr16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggaggactggttttcaCgtcccctgttaatgtcttct	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	27					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(79-81)Gtg>Atg		AKT interacting protein							116	110	112					16																	53532472		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53532472C>T	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.79G>A	16.37:g.53532472C>T	ENSP00000378152:p.Val27Met					AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000394657.6_Missense_Mutation_p.V27M	p.V27M			Q9H8T0	AKTIP_HUMAN			4	296	-		all_cancers(37;0.14)	27					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.79G>A	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222642	0.39300	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.82803	-1.65;-1.65	5.05	2.98	0.34508	.	0.407215	0.27345	N	0.019790	T	0.64305	0.2586	N	0.08118	0	0.27982	N	0.935988	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.15870	0.006;0.014;0.006	T	0.58126	-0.7691	10	0.45353	T	0.12	0.9395	8.2208	0.31541	0.0:0.5872:0.3207:0.0922	.	27;27;27	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	M	27	ENSP00000378152:V27M;ENSP00000300245:V27M	ENSP00000300245:V27M	V	-	1	0	AKTIP	52089973	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.535000	0.45685	1.506000	0.48736	0.555000	0.69702	GTG		0.423	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		82	369	0	0	0	1	0	82	369					T	53532472	C	T	53532472	3	4	79	1	0	0	0	0	1	0	0	0	482	536	19	1	831	1	AKTIP	16	53532472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3289	53532472	36822281	16302	26619											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcgggatgaaggcctcGcactacgggagttgtctgta	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000379925.3	-	15	1995	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R649*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	649	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R649*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAAGGCCTCGCACTACGGGA	0.373																																						ENST00000262135.4																			1	Substitution - Nonsense(1)	p.R649*(1)	endometrium(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(1945-1947)Cga>Tga		RPGRIP1-like							107	107	107					16																	53686654		2198	4300	6498	SO:0001587	stop_gained	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686654G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1945C>T	16.37:g.53686654G>A	ENSP00000369257:p.Arg649*					RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.R649*	p.R649*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			15	2038	-		all_cancers(37;0.0973)	649			C2 1.		A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	37	c.1945C>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623483	0.96660	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.45	3.08	0.35506	.	1.118250	0.06586	N	0.751119	.	.	.	.	.	.	0.34598	D	0.716193	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9957	10.9132	0.47120	0.0793:0.0:0.7882:0.1325	.	.	.	.	X	649	.	ENSP00000262135:R649X	R	-	1	2	RPGRIP1L	52244155	0.017000	0.18338	0.838000	0.33150	0.818000	0.46254	1.447000	0.35101	1.244000	0.43870	0.563000	0.77884	CGA		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		74	280	0	0	0	1	0	74	280					A	53686654	G	A	53686654	4	1	79	1	0	0	0	0	0	1	0	0	13600	1095	38	1	2054	1	RPGRIP1L	16	53686654	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154182	53686654	36668099	16303	26620											
FTO	79068	broad.mit.edu	37	chr16	54145726	54145726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatcagaagccagaatgtCggccatactgggaaaaggat	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	ENST00000471389.1	+	9	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000472835.1_3'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	473					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAATGTCGGCCATACTG	0.488																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1417-1419)Cgg>Tgg		fat mass and obesity associated							227	213	218					16																	54145726		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:54145726C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1417C>T	16.37:g.54145726C>T	ENSP00000418823:p.Arg473Trp					FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000472835.1_3'UTR|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W	p.R473W	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			9	1639	+			473					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1417C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241272	0.39598	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855;ENST00000268349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.66	2.11	0.27256	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.624461	0.15337	N	0.267712	T	0.26376	0.0644	N	0.21448	0.665	0.39046	D	0.960224	B	0.17268	0.021	B	0.10450	0.005	T	0.09378	-1.0677	10	0.49607	T	0.09	-7.0723	6.9537	0.24560	0.1305:0.6562:0.0:0.2133	.	473	Q9C0B1	FTO_HUMAN	W	473;177;74;74;74;95;28	ENSP00000418823:R473W;ENSP00000378142:R177W;ENSP00000415636:R74W;ENSP00000417422:R74W;ENSP00000417843:R95W	ENSP00000268349:R28W	R	+	1	2	FTO	52703227	0.975000	0.34042	0.516000	0.27786	0.934000	0.57294	1.033000	0.30191	0.714000	0.32081	0.655000	0.94253	CGG		0.488	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		47	1226	0	0	0	1	0	47	1226					T	54145726	C	T	54145726	3	4	79	1	0	0	0	0	1	0	0	0	6113	875	31	1	1451	1	FTO	16	54145726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459072	54145726	36209027	16304	26621											
IRX3	79191	broad.mit.edu	37	chr16	54317630	54317630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccgataagaccagggCggcgtccagatggttctggg	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54317630C>T	ENST00000329734.3	-	4	2186	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	492					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGACCAGGGCGGCGTCCAGA	0.423																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(1474-1476)Gcc>Acc		iroquois homeobox 3							55	54	55					16																	54317630		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54317630C>T	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1474G>A	16.37:g.54317630C>T	ENSP00000331608:p.Ala492Thr						p.A492T	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			4	2186	-			492					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.1474G>A	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107366	0.77096	.	.	ENSG00000177508	ENST00000329734	T	0.61742	0.08	5.14	5.14	0.70334	.	0.186035	0.32473	N	0.006042	T	0.66436	0.2789	L	0.39898	1.24	0.50171	D	0.999859	D	0.76494	0.999	D	0.75020	0.985	T	0.58148	-0.7687	10	0.10111	T	0.7	0.3728	18.9484	0.92630	0.0:1.0:0.0:0.0	.	492	P78415	IRX3_HUMAN	T	492	ENSP00000331608:A492T	ENSP00000331608:A492T	A	-	1	0	IRX3	52875131	1.000000	0.71417	0.693000	0.30195	0.879000	0.50718	6.855000	0.75445	2.554000	0.86153	0.561000	0.74099	GCC		0.423	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			6	144	0	0	0	1	0	6	144					T	54317630	C	T	54317630	3	4	79	1	0	0	0	0	1	0	0	0	7875	768	27	1	35	1	IRX3	16	54317630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171904	54317630	36037123	16305	26622											
IRX5	10265	broad.mit.edu	37	chr16	54967479	54967479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcgccggccccggcgccGtcacgctcgccctcggcgca	14	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000394636.4	+	3	1483	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000558597.1_Silent_p.P316P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.P381P			P78411	IRX5_HUMAN	iroquois homeobox 5	382					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1144-1146)ccG>ccA		iroquois homeobox 5							10	12	11					16																	54967479		2165	4241	6406	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967479G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1146G>A	16.37:g.54967479G>A						IRX5_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000558597.1_Silent_p.P316P	p.P382P			P78411	IRX5_HUMAN			3	1483	+			382					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.1146G>A	CCDS10751.1																																																																																				0.716	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			26	108	0	0	0	1	0	26	108					A	54967479	G	A	54967479	2	1	79	1	0	0	0	0	0	0	0	1	7877	1132	40	1		1	IRX5	16	54967479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649849	54967479	35387274	16306	26623											
IRX6	79190	broad.mit.edu	37	chr16	55361564	55361564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgggagaccaccagtacActcaaggcctggctcaacga	10	15	2	1	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	160					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(478-480)acA>acG		iroquois homeobox 6							105	79	88					16																	55361564		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361564A>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.480A>G	16.37:g.55361564A>G						IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.T160T	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1812	+			160					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.480A>G	CCDS32449.1																																																																																				0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		51	203	0	0	0	1	0	51	203					G	55361564	A	G	55361564	2	3	79	1	0	0	0	0	0	0	0	1	7878	146	6	4		4	IRX6	16	55361564	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	394085	55361564	34993189	16307	26624											
IRX6	79190	broad.mit.edu	37	chr16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggctcaacgagcaccGcaaaaacccctaccccacta	7	18	1	0	rs139251893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		10868	0.0		0.001	False		,,,				2504	0.0					ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(505-507)cGc>cAc		iroquois homeobox 6							122	93	103					16																	55361590		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361590G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.506G>A	16.37:g.55361590G>A	ENSP00000290552:p.Arg169His					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.R169H	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1838	+			169					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.506G>A	CCDS32449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	37	6.278479	0.97435	.	.	ENSG00000159387	ENST00000290552	D	0.91577	-2.87	6.08	6.08	0.98989	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.054741	0.85682	D	0.000000	D	0.92967	0.7762	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.93304	0.6679	10	0.87932	D	0	-17.4136	20.2585	0.98435	0.0:0.0:1.0:0.0	.	169;68	P78412;Q9BZI2	IRX6_HUMAN;.	H	169	ENSP00000290552:R169H	ENSP00000290552:R169H	R	+	2	0	IRX6	53919091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.894000	0.99253	0.655000	0.94253	CGC		0.612	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		65	256	0	0	0	1	0	65	256					A	55361590	G	A	55361590	3	1	79	1	0	0	0	0	1	0	0	0	7878	1087	38	1	520	1	IRX6	16	55361590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	55361590	34993163	16308	26625											
MMP2	4313	broad.mit.edu	37	chr16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactacaacttcttccctcGcaagcccaagtgggacaaga	7	14	1	1	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000219070.4	+	2	853	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000543485.1_Missense_Mutation_p.R39H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	115	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TTCTTCCCTCGCAAGCCCAAG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18998	0.0		0.0	False		,,,				2504	0.0					ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(343-345)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						87	80	83					16																	55517011		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55517011G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.344G>A	16.37:g.55517011G>A	ENSP00000219070:p.Arg115His					MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H	p.R115H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	2	853	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	115			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.344G>A	CCDS10752.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.82	1.458337	0.26248	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.83	0.44106	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.301229	0.38663	N	0.001605	T	0.72366	0.3451	L	0.37630	1.12	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.68804	-0.5312	10	0.51188	T	0.08	.	13.476	0.61308	0.077:0.0:0.923:0.0	.	65;115	E9PE45;P08253	.;MMP2_HUMAN	H	115;39;65	ENSP00000219070:R115H;ENSP00000444143:R39H;ENSP00000394237:R65H	ENSP00000219070:R115H	R	+	2	0	MMP2	54074512	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	6.718000	0.74713	1.145000	0.42336	-0.252000	0.11476	CGC		0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			82	306	0	0	0	1	0	82	306					A	55517011	G	A	55517011	3	1	79	1	0	0	0	0	1	0	0	0	9699	1087	38	1	357	1	MMP2	16	55517011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155421	55517011	34837742	16309	26626											
MMP2	4313	broad.mit.edu	37	chr16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcaccagcgccggccGcagtgacggaaagatgtggt	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000219070.4	+	7	1612	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	368	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGCGCCGGCCGCAGTGACGGA	0.582																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1102-1104)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						109	97	101					16																	55523659		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523659G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1103G>A	16.37:g.55523659G>A	ENSP00000219070:p.Arg368His					MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H	p.R368H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1612	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	368			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1103G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879572	0.91740	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53640	0.61;0.61;0.61	4.91	4.91	0.64330	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.81826	-0.0754	10	0.87932	D	0	.	18.459	0.90731	0.0:0.0:1.0:0.0	.	318;368	E9PE45;P08253	.;MMP2_HUMAN	H	368;292;318	ENSP00000219070:R368H;ENSP00000444143:R292H;ENSP00000394237:R318H	ENSP00000219070:R368H	R	+	2	0	MMP2	54081160	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.813000	0.99286	2.423000	0.82170	0.655000	0.94253	CGC		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			118	451	0	0	0	1	0	118	451					A	55523659	G	A	55523659	3	1	79	1	0	0	0	0	1	0	0	0	9699	1087	38	1	1136	1	MMP2	16	55523659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6648	55523659	34831094	16310	26627											
CAPNS2	84290	broad.mit.edu	37	chr16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctaaatgaacaactttAccaaatgattgtccgccggt	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAACAACTTTACCAAATGATT	0.488																																						ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(568-570)tAc>tGc		calpain, small subunit 2							143	140	141					16																	55601237		1891	4112	6003	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601237A>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"EF-hand domain containing"	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.569A>G	16.37:g.55601237A>G	ENSP00000400882:p.Tyr190Cys					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.Y190C	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	654	+			190			EF-hand 3.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.569A>G	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627736	0.28978	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.42268	0.1195	L	0.42744	1.35	0.09310	N	0.999998	B	0.26809	0.16	B	0.26969	0.075	T	0.40664	-0.9551	9	0.62326	D	0.03	.	11.0497	0.47880	0.923:0.0:0.077:0.0	.	190	Q96L46	CPNS2_HUMAN	C	190	ENSP00000400882:Y190C	ENSP00000400882:Y190C	Y	+	2	0	CAPNS2	54158738	1.000000	0.71417	0.452000	0.26994	0.840000	0.47671	2.419000	0.44671	2.288000	0.76882	0.528000	0.53228	TAC		0.488	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		27	836	0	0	0	1	0	27	836					G	55601237	A	G	55601237	3	3	79	1	0	0	0	0	1	0	0	0	2641	391	14	4	571	4	CAPNS2	16	55601237	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77578	55601237	34753516	16311	26628											
SLC6A2	6530	broad.mit.edu	37	chr16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacaccaagtactccaagTacaagttcacgccggcagcc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	205					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(613-615)Tac>Cac		solute carrier family 6 (neurotransmitter transporter), 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)						100	87	91					16																	55706056		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55706056T>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.613T>C	16.37:g.55706056T>C	ENSP00000369237:p.Tyr205His					SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H	p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	3	868	+			205					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.613T>C	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092195	0.36952	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	4.65	0.58169	.	0.307757	0.37012	N	0.002281	T	0.60983	0.2311	L	0.31120	0.905	0.51233	D	0.999914	B;B;B	0.15930	0.006;0.015;0.006	B;B;B	0.21546	0.013;0.035;0.013	T	0.55003	-0.8208	10	0.15066	T	0.55	.	11.8823	0.52581	0.1306:0.0:0.0:0.8694	.	205;100;205	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	H	205	ENSP00000394956:Y205H;ENSP00000369237:Y205H;ENSP00000219833:Y205H	ENSP00000219833:Y205H	Y	+	1	0	SLC6A2	54263557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.213000	0.71641	0.528000	0.53228	TAC		0.567	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			50	237	0	0	0	1	0	50	237					C	55706056	T	C	55706056	3	2	79	1	0	0	0	0	1	0	0	0	14733	1638	57	4	714	4	SLC6A2	16	55706056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	104819	55706056	34648697	16312	26629											
CES1	1066	broad.mit.edu	37	chr16	55844569	55844569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctggaatcagttccttaGcaatgcactgaaatagatca	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55844569G>T	ENST00000361503.4	-	11	1305	c.1175C>A	c.(1174-1176)gCt>gAt	p.A392D	CES1_ENST00000422046.2_Missense_Mutation_p.A391D|CES1_ENST00000360526.3_Missense_Mutation_p.A393D			P23141	EST1_HUMAN	carboxylesterase 1	392					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCTTAGCAATGCACTG	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1171-1173)gCt>gAt		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						127	136	133					16																	55844569		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844569G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1175C>A	16.37:g.55844569G>T	ENSP00000355193:p.Ala392Asp					CES1_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000361503.4_Missense_Mutation_p.A392D	p.A391D			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1453	-			392					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1172C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953664	0.34471	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.08984	3.09;3.09;3.03	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.644142	0.15298	N	0.269790	T	0.06872	0.0175	N	0.11131	0.1	0.09310	N	1	B;B;B	0.20261	0.021;0.043;0.017	B;B;B	0.30495	0.116;0.116;0.071	T	0.34551	-0.9824	10	0.59425	D	0.04	.	13.1724	0.59606	0.0:0.0:1.0:0.0	.	391;392;393	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	D	393;392;391;257	ENSP00000353720:A393D;ENSP00000355193:A392D;ENSP00000390492:A391D	ENSP00000353720:A393D	A	-	2	0	CES1	54402070	0.507000	0.26146	0.005000	0.12908	0.003000	0.03518	5.319000	0.65835	2.182000	0.69389	0.456000	0.33151	GCT		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		19	844	1	0	1.01871e-10	1	1.082e-10	19	844					T	55844569	G	T	55844569	3	4	79	1	0	0	0	0	1	0	0	0	3278	971	34	3	544	3	CES1	16	55844569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138513	55844569	34510184	16313	26630											
CES7	221223	broad.mit.edu	37	chr16	55883597	55883597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagcggacttcatcagcGtggtcggctttgacaaaagc	11	10	2	1	rs374208521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55883597G>A	ENST00000290567.9	-	11	1483	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	CES5A_ENST00000518005.1_Silent_p.H348H|CES5A_ENST00000520435.1_Silent_p.H424H|CES5A_ENST00000521992.1_Silent_p.H483H|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	454						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTCATCAGCGTGGTCGGCTT	0.527																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1447-1449)caC>caT		carboxylesterase 5A		G	,,	0,3136		0,0,1568	155	135	141		1362,1449,	2.3	0.5	16		141	2,7162		0,2,3580	no	coding-synonymous,coding-synonymous,intron	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	0,2,5148	AA,AG,GG		0.0279,0.0,0.0194	,,	454/576,483/605,	55883597	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55883597G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1362C>T	16.37:g.55883597G>A						CES5A_ENST00000518005.1_Silent_p.H348H|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.H424H|CES5A_ENST00000290567.9_Silent_p.H454H	p.H483H	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			12	1594	-			454					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1449C>T	CCDS45490.1																																																																																				0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		109	505	0	0	0	1	0	109	505					A	55883597	G	A	55883597	2	1	79	1	0	0	0	0	0	0	0	1	3281	1136	40	1		1	CES7	16	55883597	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39028	55883597	34471156	16314	26631											
CES7	221223	broad.mit.edu	37	chr16	55903635	55903635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagtcttgaaggcacCtcctgggaaccacaccaaga	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55903635C>A	ENST00000290567.9	-	4	560	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C	CES5A_ENST00000518005.1_Missense_Mutation_p.G41C|CES5A_ENST00000520435.1_Missense_Mutation_p.G117C|CES5A_ENST00000521992.1_Missense_Mutation_p.G176C|CES5A_ENST00000319165.9_Missense_Mutation_p.G147C|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	147						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGAAGGCACCTCCTGGGAAC	0.587																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(526-528)Ggt>Tgt		carboxylesterase 5A							64	46	52					16																	55903635		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903635C>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.439G>T	16.37:g.55903635C>A	ENSP00000290567:p.Gly147Cys					CES5A_ENST00000518005.1_Missense_Mutation_p.G41C|CES5A_ENST00000319165.9_Missense_Mutation_p.G147C|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.G117C|CES5A_ENST00000290567.9_Missense_Mutation_p.G147C	p.G176C	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			5	671	-			147					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.526G>T	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993079	0.54041	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;D	0.84516	-0.34;-0.34;-0.34;-0.34;-0.34;-1.86	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.95856	0.8651	H	0.99273	4.495	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.97730	1.0202	10	0.87932	D	0	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	147;147	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	C	176;147;41;147;117;41	ENSP00000428864:G176C;ENSP00000324271:G147C;ENSP00000428571:G41C;ENSP00000290567:G147C;ENSP00000428887:G117C;ENSP00000439810:G41C	ENSP00000290567:G147C	G	-	1	0	CES5A	54461136	0.999000	0.42202	0.630000	0.29268	0.049000	0.14656	5.220000	0.65267	2.440000	0.82611	0.557000	0.71058	GGT		0.587	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		18	56	1	0	1.33834e-09	1	1.40959e-09	18	56					A	55903635	C	A	55903635	3	1	79	1	0	0	0	0	1	0	0	0	3281	681	24	3	1328	3	CES7	16	55903635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20038	55903635	34451118	16315	26632											
CES7	221223	broad.mit.edu	37	chr16	55905609	55905609	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcagtcttctgacactccGaatttcgggtaatgcacctt	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55905609G>A	ENST00000290567.9	-	3	466	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CES5A_ENST00000518005.1_Silent_p.F9F|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000521992.1_Silent_p.F144F|CES5A_ENST00000319165.9_Silent_p.F115F|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	115						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACACTCCGAATTTCGGGT	0.537																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(430-432)ttC>ttT		carboxylesterase 5A							96	75	82					16																	55905609		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55905609G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.345C>T	16.37:g.55905609G>A						CES5A_ENST00000518005.1_Silent_p.F9F|CES5A_ENST00000319165.9_Silent_p.F115F|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000290567.9_Silent_p.F115F	p.F144F	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			4	577	-			115					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.432C>T	CCDS45490.1																																																																																				0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		44	199	0	0	0	1	0	44	199					A	55905609	G	A	55905609	2	1	79	1	0	0	0	0	0	0	0	1	3281	1049	37	1		1	CES7	16	55905609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1974	55905609	34449144	16316	26633											
GNAO1	2775	broad.mit.edu	37	chr16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagtctctcatgctcttcGactccatctgtaacaacaag	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507																																						ENST00000262493.6																			1	Substitution - Missense(1)	p.D252N(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(754-756)Gac>Aac		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							154	128	137					16																	56385326		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56385326G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.754G>A	16.37:g.56385326G>A	ENSP00000262493:p.Asp252Asn						p.D252N	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN			7	1600	+		all_neural(199;0.159)	252					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.754G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	GNAO1	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC		0.507	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		30	199	0	0	0	1	0	30	199					A	56385326	G	A	56385326	3	1	79	1	0	0	0	0	1	0	0	0	6537	1058	37	1	1130	1	GNAO1	16	56385326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479717	56385326	33969427	16317	26634											
AMFR	267	broad.mit.edu	37	chr16	56437031	56437031	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagatgttgccaaataaCttagagagaaagagaataaa	8	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7-1		autocrine motility factor receptor, E3 ubiquitin protein ligase							89	74	79					16																	56437031		2198	4300	6498	SO:0001630	splice_region_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56437031C>T	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.841-1G>A	16.37:g.56437031C>T								NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			7	1051	-								P26442|Q8IZ70	Splice_Site	SNP	ENST00000290649.5	37		CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049295	0.75846	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMFR	54994532	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.770000	0.85390	2.540000	0.85666	0.650000	0.86243	.		0.468	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		Intron	56	293	0	0	0	1	0	56	293					T	56437031	C	T	56437031	5	4	79	1	0	0	0	0	0	0	1	0	571	579	20	2	1123	2	AMFR	16	56437031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51705	56437031	33917722	16318	26635											
BBS2	583	broad.mit.edu	37	chr16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatatccatttagcaagtctCtattaaggtcatagagttcc	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	652					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1954-1956)aGa>aAa		Bardet-Biedl syndrome 2							141	134	137					16																	56519606		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56519606C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1955G>A	16.37:g.56519606C>T	ENSP00000245157:p.Arg652Lys					BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	p.R652K	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			16	2375	-			652					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1955G>A	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647083	0.29246	.	.	ENSG00000125124	ENST00000245157	D	0.90444	-2.67	5.64	3.41	0.39046	.	0.131453	0.64402	N	0.000003	D	0.82563	0.5064	L	0.33245	0.995	0.34455	D	0.701105	B	0.09022	0.002	B	0.13407	0.009	T	0.75164	-0.3414	10	0.22109	T	0.4	-9.6526	7.1628	0.25672	0.0:0.4023:0.0:0.5977	.	652	Q9BXC9	BBS2_HUMAN	K	652	ENSP00000245157:R652K	ENSP00000245157:R652K	R	-	2	0	BBS2	55077107	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.301000	0.43628	0.433000	0.26313	-0.482000	0.04802	AGA		0.368	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		113	410	0	0	0	1	0	113	410					T	56519606	C	T	56519606	3	4	79	1	0	0	0	0	1	0	0	0	1339	913	32	2	218	2	BBS2	16	56519606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82575	56519606	33835147	16319	26636											
BBS2	583	broad.mit.edu	37	chr16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggttatacttgcctcTctgtagaacaaatccgaatt	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	114					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(340-342)agA>agT		Bardet-Biedl syndrome 2							70	67	68					16																	56548368		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56548368T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.342A>T	16.37:g.56548368T>A	ENSP00000245157:p.Arg114Ser					BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	p.R114S	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			2	762	-			114					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.342A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891511	0.52014	.	.	ENSG00000125124	ENST00000245157	D	0.83075	-1.68	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.124466	0.64402	D	0.000003	T	0.79879	0.4522	L	0.61218	1.895	0.48830	D	0.999713	B;B	0.34399	0.452;0.452	B;B	0.33620	0.167;0.167	T	0.81013	-0.1125	10	0.87932	D	0	-14.9158	9.8741	0.41194	0.0:0.0764:0.0:0.9236	.	114;114	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	114	ENSP00000245157:R114S	ENSP00000245157:R114S	R	-	3	2	BBS2	55105869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.690000	0.47001	2.050000	0.60909	0.482000	0.46254	AGA		0.353	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		58	251	0	0	0	1	0	58	251					A	56548368	T	A	56548368	3	1	79	1	0	0	0	0	1	0	0	0	1339	1548	54	5	1887	5	BBS2	16	56548368	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28762	56548368	33806385	16320	26637											
MT1M	4499	broad.mit.edu	37	chr16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactgctcctgcaccaCtggtaagagaagccgaccct	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I	AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	9	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592																																						ENST00000379818.3																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(25-27)aCt>aTt		metallothionein 1M							65	71	69					16																	56666669		2197	4300	6497	SO:0001583	missense	4499						metal ion binding	g.chr16:56666669C>T	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"Metallothioneins"	14296	protein-coding gene	gene with protein product		156357	"metallothionein 1K"	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.26C>T	16.37:g.56666669C>T	ENSP00000369146:p.Thr9Ile						p.T9I	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN			1	525	+			9			Beta.		Q8TDN3	Missense_Mutation	SNP	ENST00000379818.3	37	c.26C>T	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431737	0.25813	.	.	ENSG00000205364	ENST00000379818	T	0.10288	2.89	2.61	1.48	0.22813	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.102672	0.38005	U	0.001860	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.34301	0.179	T	0.22208	-1.0223	9	0.87932	D	0	.	5.9454	0.19215	0.3093:0.6907:0.0:0.0	.	9	Q8N339	MT1M_HUMAN	I	9	ENSP00000369146:T9I	ENSP00000369146:T9I	T	+	2	0	MT1M	55224170	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.537000	0.23144	1.466000	0.48025	0.306000	0.20318	ACT		0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870		77	480	0	0	0	1	0	77	480					T	56666669	C	T	56666669	3	4	79	1	0	0	0	0	1	0	0	0	9944	565	20	2	28	2	MT1M	16	56666669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118301	56666669	33688084	16321	26638											
MT1M	4499	broad.mit.edu	37	chr16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccccaggctgctgCtcctgctgccccgtgggctg	11	18	1	0	rs368113609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622																																						ENST00000379818.3																			2	Substitution - coding silent(2)	p.C34C(2)	lung(1)|endometrium(1)	endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(100-102)tgC>tgA		metallothionein 1M							134	137	136					16																	56667670		2198	4300	6498	SO:0001587	stop_gained	4499						metal ion binding	g.chr16:56667670C>A	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"Metallothioneins"	14296	protein-coding gene	gene with protein product		156357	"metallothionein 1K"	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.102C>A	16.37:g.56667670C>A	ENSP00000369146:p.Cys34*						p.C34*	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN			3	601	+			34			Alpha.		Q8TDN3	Nonsense_Mutation	SNP	ENST00000379818.3	37	c.102C>A	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037933	0.97226	.	.	ENSG00000205364	ENST00000379818	.	.	.	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0436	0.42173	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000369146:C34X	C	+	3	2	MT1M	55225171	0.698000	0.27777	0.998000	0.56505	0.557000	0.35523	-0.062000	0.11674	1.338000	0.45544	0.461000	0.40582	TGC		0.622	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870		153	849	1	0	3.41882e-60	1	4.29776e-60	153	849					A	56667670	C	A	56667670	4	1	79	1	0	0	0	0	0	1	0	0	9944	805	28	3	112	3	MT1M	16	56667670	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	56667670	33687083	16322	26639											
MT1H	4496	broad.mit.edu	37	chr16	56704811	56704811	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctttttccccaggCtgctgctcctgttgccccct	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617																																						ENST00000332374.4																			0				lung(5)	5						c.e3-1		metallothionein 1H							122	113	116					16																	56704811		2198	4300	6498	SO:0001630	splice_region_variant	4496						metal ion binding|protein binding	g.chr16:56704811C>A	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.95-1C>A	16.37:g.56704811C>A						MT1H_ENST00000569155.1_3'UTR	p.S32_splice	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN			3	167	+			32			Alpha.		B2RUY6	Splice_Site	SNP	ENST00000332374.4	37	c.94_splice	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908037	0.17833	.	.	ENSG00000205358	ENST00000332374	T	0.12984	2.63	2.6	2.6	0.31112	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.064398	0.64402	U	0.000011	T	0.11750	0.0286	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.08722	-1.0708	9	0.87932	D	0	.	10.313	0.43721	0.0:1.0:0.0:0.0	.	32	P80294	MT1H_HUMAN	R	32	ENSP00000330587:S32R	ENSP00000330587:S32R	S	+	3	2	MT1H	55262312	1.000000	0.71417	0.965000	0.40720	0.142000	0.21351	1.968000	0.40500	1.141000	0.42275	0.313000	0.20887	AGC		0.617	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951	Missense_Mutation	40	502	1	0	4.32679e-17	1	4.76816e-17	40	502					A	56704811	C	A	56704811	5	1	79	1	0	0	0	0	0	0	1	0	9943	811	28	3	106	3	MT1H	16	56704811	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37141	56704811	33649942	16323	26640											
NUP93	9688	broad.mit.edu	37	chr16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcttttaaagtcctctgGacagagtgctcagctccgtg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000308159.5	+	13	1641	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NUP93_ENST00000564887.1_Missense_Mutation_p.G384E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	507					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1150-1152)gGa>gAa		nucleoporin 93kDa							68	60	63					16																	56867301		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56867301G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1520G>A	16.37:g.56867301G>A	ENSP00000310668:p.Gly507Glu					NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000308159.5_Missense_Mutation_p.G507E	p.G384E	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			11	1780	+			507					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1151G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216492	0.58452	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42131	0.98;0.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.09228	-1.0684	10	0.27785	T	0.31	-12.0839	19.7096	0.96089	0.0:0.0:1.0:0.0	.	507	Q8N1F7	NUP93_HUMAN	E	507;384	ENSP00000310668:G507E;ENSP00000440235:G384E	ENSP00000310668:G507E	G	+	2	0	NUP93	55424802	1.000000	0.71417	0.982000	0.44146	0.655000	0.38815	7.863000	0.87023	2.652000	0.90054	0.655000	0.94253	GGA		0.537	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		52	199	0	0	0	1	0	52	199					A	56867301	G	A	56867301	3	1	79	1	0	0	0	0	1	0	0	0	10814	1174	41	2	1566	2	NUP93	16	56867301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162490	56867301	33487452	16324	26641											
SLC12A3	6559	broad.mit.edu	37	chr16	56906698	56906698	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacatatctggtgacctcaaGgtgagcagaatacttgcccc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000563236.1	+	8	1120	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000438926.2_Splice_Site_p.K365N|SLC12A3_ENST00000262502.5_Splice_Site_p.K364N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	365					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)			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)	GTGACCTCAAGGTGAGCAGAA	0.597																																						ENST00000438926.2																			0				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						c.e8+1		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						68	61	63					16																	56906698		2198	4300	6498	SO:0001630	splice_region_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906698G>T		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.1095+1G>T	16.37:g.56906698G>T						SLC12A3_ENST00000566786.1_Splice_Site_p.K364_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.K364_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.K365_splice	p.K365_splice	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			8	1124	+			365					A8MSJ2|C9JNN9	Splice_Site	SNP	ENST00000563236.1	37	c.1095_splice	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902203	0.72754	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.67	4.72	0.59763	Amino acid permease domain (1);	0.044027	0.85682	D	0.000000	D	0.86243	0.5886	H	0.95816	3.725	0.80722	D	1	B;P;P	0.43412	0.329;0.806;0.769	B;P;P	0.61397	0.279;0.888;0.821	D	0.89721	0.3919	9	0.87932	D	0	.	14.6175	0.68560	0.0702:0.0:0.9297:0.0	.	364;365;365	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	364;365	.	ENSP00000262502:K365N	K	+	3	2	SLC12A3	55464199	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.634000	0.61325	1.395000	0.46643	0.561000	0.74099	AAG		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		Missense_Mutation	57	252	1	0	1.69475e-38	1	2.04315e-38	57	252					T	56906698	G	T	56906698	5	4	79	1	0	0	0	0	0	0	1	0	14434	1014	35	3	1125	3	SLC12A3	16	56906698	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39397	56906698	33448055	16325	26642											
SLC12A3	6559	broad.mit.edu	37	chr16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcccccacctcctgcagtgGaccccaaggccctggtgaag	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000563236.1	+	21	2447	c.2422G>T	c.(2422-2424)Gac>Tac	p.D808Y	SLC12A3_ENST00000438926.2_Missense_Mutation_p.D817Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	808					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)			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)	TCCTGCAGTGGACCCCAAGGC	0.642																																						ENST00000438926.2																			0				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						c.(2449-2451)Gac>Tac		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						73	53	60					16																	56926867		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56926867G>T		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.2422G>T	16.37:g.56926867G>T	ENSP00000456149:p.Asp808Tyr					SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D808Y	p.D817Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			21	2478	+			808					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2449G>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383581	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.09	1.48	0.22813	.	0.794787	0.11471	N	0.560748	T	0.66187	0.2764	M	0.77313	2.365	0.36043	D	0.840258	P;P;P	0.41673	0.759;0.712;0.512	P;B;B	0.49953	0.627;0.429;0.391	T	0.70590	-0.4830	9	0.62326	D	0.03	.	8.3943	0.32548	0.1684:0.133:0.6986:0.0	.	816;808;817	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	816;817	.	ENSP00000262502:D817Y	D	+	1	0	SLC12A3	55484368	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	3.972000	0.56838	0.529000	0.28599	0.561000	0.74099	GAC		0.642	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			31	145	1	0	1.30897e-18	1	1.45408e-18	31	145					T	56926867	G	T	56926867	3	4	79	1	0	0	0	0	1	0	0	0	14434	1174	41	3	2531	3	SLC12A3	16	56926867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20169	56926867	33427886	16326	26643											
HERPUD1	9709	broad.mit.edu	37	chr16	56977193	56977193	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaaggccccccagccatCgcaaactgatggtgtttgtg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000300302.5_Silent_p.I388I|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Silent_p.I230I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	389					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(1165-1167)atC>atT		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							188	181	183					16																	56977193		2198	4300	6498	SO:0001819	synonymous_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977193C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1167C>T	16.37:g.56977193C>T						HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Silent_p.I388I|HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000344114.4_Silent_p.I230I	p.I389I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			8	1364	+			389					E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	37	c.1167C>T	CCDS10771.1																																																																																				0.522	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			200	915	0	0	0	1	0	200	915					T	56977193	C	T	56977193	2	4	79	1	0	0	0	0	0	0	0	1	7093	874	31	1		1	HERPUD1	16	56977193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50326	56977193	33377560	16327	26644											
NLRC5	84166	broad.mit.edu	37	chr16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatcctgcacctgccGccccttccttagccacctgg	8	20	0	0	rs368370938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000262510.6	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	574					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(1720-1722)cGc>cAc		NLR family, CARD domain containing 5		G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	59	54	56		1721	-3.6	0	16		56	0,8600		0,0,4300	no	missense	NLRC5	NM_032206.3	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	574/1867	57060576	1,12995	2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060576G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1721G>A	16.37:g.57060576G>A	ENSP00000262510:p.Arg574His					NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000262510.6_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H	p.R574H			Q86WI3	NLRC5_HUMAN			6	1946	+		all_neural(199;0.225)	574					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1721G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098957	0.08681	2.27E-4	0.0	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.36	-3.61	0.04556	.	1.014940	0.07930	N	0.977276	T	0.74152	0.3679	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.23316	0.083;0.067;0.012;0.007	B;B;B;B	0.16289	0.01;0.015;0.009;0.006	T	0.58165	-0.7684	10	0.39692	T	0.17	.	5.0745	0.14625	0.4379:0.0:0.3413:0.2208	.	574;574;574;574	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	574;574;574;48;574;81	ENSP00000262510:R574H;ENSP00000308886:R574H;ENSP00000389739:R574H;ENSP00000441727:R574H;ENSP00000441597:R81H	ENSP00000262510:R574H	R	+	2	0	NLRC5	55618077	0.000000	0.05858	0.030000	0.17652	0.031000	0.12232	0.137000	0.15995	-0.473000	0.06871	-0.310000	0.09108	CGC		0.632	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		39	401	0	0	0	1	0	39	401					A	57060576	G	A	57060576	3	1	79	1	0	0	0	0	1	0	0	0	10512	1087	38	1	1735	1	NLRC5	16	57060576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83383	57060576	33294177	16328	26645											
NLRC5	84166	broad.mit.edu	37	chr16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctccaggtccacgatgCggaggccctcatagccctgc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000262510.6	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	859					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGATGCGGAGGCCCTC	0.622																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2575-2577)gCg>gTg		NLR family, CARD domain containing 5							55	45	49					16																	57068112		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57068112C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2576C>T	16.37:g.57068112C>T	ENSP00000262510:p.Ala859Val					NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V	p.A859V			Q86WI3	NLRC5_HUMAN			13	2801	+		all_neural(199;0.225)	859					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2576C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918783	0.33908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.82	0.146	0.14833	.	1.318100	0.05844	N	0.619853	T	0.25044	0.0608	N	0.05124	-0.11	0.09310	N	1	P;P;B;B	0.37061	0.58;0.542;0.375;0.051	B;B;B;B	0.33890	0.144;0.172;0.089;0.014	T	0.07673	-1.0760	10	0.06365	T	0.9	.	7.0124	0.24869	0.0:0.4574:0.0:0.5426	.	859;859;859;859	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	859;859;859;333;859;366;158	ENSP00000262510:A859V;ENSP00000308886:A859V;ENSP00000389739:A859V;ENSP00000441727:A859V;ENSP00000441597:A366V;ENSP00000440153:A158V	ENSP00000262510:A859V	A	+	2	0	NLRC5	55625613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.010000	0.03656	-0.157000	0.11059	-1.244000	0.01528	GCG		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		18	128	0	0	0	1	0	18	128					T	57068112	C	T	57068112	3	4	79	1	0	0	0	0	1	0	0	0	10512	768	27	1	2618	1	NLRC5	16	57068112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7536	57068112	33286641	16329	26646											
NLRC5	84166	broad.mit.edu	37	chr16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgccgtgttgggttTggttcggtgcttctccactc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000262510.6	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1052					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGTTGGGTTTGGTTCGGTGC	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3154-3156)tTg>tCg		NLR family, CARD domain containing 5							437	319	359					16																	57077468		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57077468T>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3155T>C	16.37:g.57077468T>C	ENSP00000262510:p.Leu1052Ser					NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000262510.6_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S	p.L1052S			Q86WI3	NLRC5_HUMAN			20	3380	+		all_neural(199;0.225)	1052					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3155T>C	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867533	0.51588	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.29	4.29	0.51040	.	0.000000	0.27469	N	0.019238	D	0.83087	0.5178	M	0.83118	2.625	0.09310	N	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	T	0.74595	-0.3613	10	0.87932	D	0	.	10.0221	0.42048	0.0:0.0:0.0:1.0	.	1052;1052;1052;1052	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	S	1052;1052;1052;526;1052;559;351	ENSP00000262510:L1052S;ENSP00000308886:L1052S;ENSP00000389739:L1052S;ENSP00000441727:L1052S;ENSP00000441597:L559S;ENSP00000440153:L351S	ENSP00000262510:L1052S	L	+	2	0	NLRC5	55634969	0.106000	0.21978	0.093000	0.20910	0.004000	0.04260	1.686000	0.37669	1.941000	0.56285	0.460000	0.39030	TTG		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		278	1174	0	0	0	1	0	278	1174					C	57077468	T	C	57077468	3	2	79	1	0	0	0	0	1	0	0	0	10512	1821	63	4	3225	4	NLRC5	16	57077468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9356	57077468	33277285	16330	26647											
NLRC5	84166	broad.mit.edu	37	chr16	57091998	57091998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagcaaacctgctgggCgacagcggactcagatgcct	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000262510.6	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000436936.1_Silent_p.G1256G|NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000308149.7_Silent_p.G1227G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1256					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGCTGGGCGACAGCGGAC	0.577																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3766-3768)ggC>ggT		NLR family, CARD domain containing 5							57	47	50					16																	57091998		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57091998C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3768C>T	16.37:g.57091998C>T						RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000262510.6_Silent_p.G1256G|NLRC5_ENST00000539144.1_Silent_p.G1227G	p.G1256G			Q86WI3	NLRC5_HUMAN			28	3993	+		all_neural(199;0.225)	1256					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3768C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908825	0.02434	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.68	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464	0.01366	0.1515:0.2682:0.1567:0.4237	.	.	.	.	X	1008;8	.	.	R	+	1	2	NLRC5	55649499	0.995000	0.38212	0.443000	0.26883	0.005000	0.04900	-0.097000	0.11042	-0.621000	0.05633	-1.490000	0.00973	CGA		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		17	62	0	0	0	1	0	17	62					T	57091998	C	T	57091998	2	4	79	1	0	0	0	0	0	0	0	1	10512	755	27	1		1	NLRC5	16	57091998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14530	57091998	33262755	16331	26648											
NLRC5	84166	broad.mit.edu	37	chr16	57111861	57111861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctcttccaggcttggCtgcaatgccctgggggatcc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.G1641G|NLRC5_ENST00000308149.7_Silent_p.G1641G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1670					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCTTGGCTGCAATGCCC	0.672																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5008-5010)ggC>ggT		NLR family, CARD domain containing 5							46	43	44					16																	57111861		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111861C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5010C>T	16.37:g.57111861C>T						NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000539144.1_Silent_p.G1641G	p.G1670G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			43	5235	+		all_neural(199;0.225)	1670					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.5010C>T	CCDS10773.1																																																																																				0.672	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		8	243	0	0	0	1	0	8	243					T	57111861	C	T	57111861	2	4	79	1	0	0	0	0	0	0	0	1	10512	784	28	2		2	NLRC5	16	57111861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19863	57111861	33242892	16332	26649											
NLRC5	84166	broad.mit.edu	37	chr16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccattccctgcgacatgGcccagcacctgaagagccag	9	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGACATGGCCCAGCACCT	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)Gcc>Acc		NLR family, CARD domain containing 5							105	94	98					16																	57116360		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116360G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5521G>A	16.37:g.57116360G>A	ENSP00000262510:p.Ala1841Thr					NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T	p.A1841T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			49	5746	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5521G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039218	0.75617	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54479	0.57;0.57;0.57	4.47	4.47	0.54385	.	0.898467	0.09038	N	0.857661	T	0.67202	0.2868	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.66192	-0.5985	10	0.56958	D	0.05	.	13.013	0.58741	0.0:0.0:1.0:0.0	.	1841	Q86WI3	NLRC5_HUMAN	T	1841;1812;1812	ENSP00000262510:A1841T;ENSP00000308886:A1812T;ENSP00000441727:A1812T	ENSP00000262510:A1841T	A	+	1	0	NLRC5	55673861	0.999000	0.42202	0.665000	0.29768	0.006000	0.05464	4.344000	0.59354	2.203000	0.70933	0.563000	0.77884	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		82	443	0	0	0	1	0	82	443					A	57116360	G	A	57116360	3	1	79	1	0	0	0	0	1	0	0	0	10512	1203	42	2	5707	2	NLRC5	16	57116360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	57116360	33238393	16333	26650											
CPNE2	221184	broad.mit.edu	37	chr16	57149461	57149461	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggggaagggcttgattaCggtaccagtcccctcccggc	14	13	0	1	rs376741496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000290776.8_Splice_Site_p.T145M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M			Q96FN4	CPNE2_HUMAN	copine II	145	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.e5+1		copine II		C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	77	68	71		434	3.8	1	16		71	0,8600		0,0,4300	no	missense-near-splice	CPNE2	NM_152727.5	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	145/549	57149461	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	221184							g.chr16:57149461C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.435+1C>T	16.37:g.57149461C>T						CPNE2_ENST00000290776.8_Splice_Site_p.T145_splice|CPNE2_ENST00000537605.1_Splice_Site_p.T43_splice|CPNE2_ENST00000565874.1_Splice_Site_p.T145_splice	p.T145_splice			Q96FN4	CPNE2_HUMAN			5	795	+		all_neural(199;0.224)	145			C2 2.		Q68D19|Q719H8|Q86XP9	Splice_Site	SNP	ENST00000535318.2	37	c.435_splice	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527307	0.44969	4.55E-4	0.0	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09255	3.43;3.0;3.43	4.73	3.78	0.43462	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.83852	2.665	0.54753	D	0.999988	D;P	0.69078	0.997;0.668	P;B	0.50231	0.635;0.207	T	0.11108	-1.0601	10	0.66056	D	0.02	-10.54	13.0984	0.59206	0.0:0.9224:0.0:0.0776	.	145;145	A8K8A4;Q96FN4	.;CPNE2_HUMAN	M	145;43;145	ENSP00000290776:T145M;ENSP00000445468:T43M;ENSP00000439018:T145M	ENSP00000290776:T145M	T	+	2	0	CPNE2	55706962	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.616000	0.54174	1.015000	0.39444	-0.119000	0.15052	ACG		0.607	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	Missense_Mutation	59	223	0	0	0	1	0	59	223					T	57149461	C	T	57149461	5	4	79	1	0	0	0	0	0	0	1	0	3821	550	19	1	444	1	CPNE2	16	57149461	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33101	57149461	33205292	16334	26651											
FAM192A	80011	broad.mit.edu	37	chr16	57188214	57188214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagaaactagggggcctcGaggaaggtgttggttcggaa	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000309137.8	-	7	1011	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	251						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547																																						ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(751-753)ctC>ctT		family with sequence similarity 192, member A							55	66	62					16																	57188214		1967	4143	6110	SO:0001819	synonymous_variant	80011					nucleus		g.chr16:57188214G>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"NEFA interacting nuclear protein NIP30"		"chromosome 16 open reading frame 94"	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.753C>T	16.37:g.57188214G>A						FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L	p.L251L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			7	1011	-			251						Silent	SNP	ENST00000309137.8	37	c.753C>T	CCDS42168.1																																																																																				0.547	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		29	160	0	0	0	1	0	29	160					A	57188214	G	A	57188214	2	1	79	1	0	0	0	0	0	0	0	1	5544	1045	37	1		1	FAM192A	16	57188214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38753	57188214	33166539	16335	26652											
RSPRY1	89970	broad.mit.edu	37	chr16	57272872	57272872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatctagaatcagacagatTtctcatatttcatgacacat	5	8	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	ENST00000537866.1	+	15	2589	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	572						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCAGACAGATTTCTCATATTT	0.393																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1714-1716)atT>atG		ring finger and SPRY domain containing 1							93	81	85					16																	57272872		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57272872T>G	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1716T>G	16.37:g.57272872T>G	ENSP00000443176:p.Ile572Met					RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M	p.I572M			Q96DX4	RSPRY_HUMAN			15	2589	+			572					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1716T>G	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572026	0.45798	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86366	-2.11;-2.11	5.73	0.987	0.19790	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.67397	2.05	0.49051	D	0.999746	D	0.56521	0.976	P	0.50659	0.647	T	0.81957	-0.0695	10	0.52906	T	0.07	.	5.7173	0.17968	0.1194:0.3027:0.0:0.5779	.	572	Q96DX4	RSPRY_HUMAN	M	572	ENSP00000377942:I572M;ENSP00000443176:I572M	ENSP00000377942:I572M	I	+	3	3	RSPRY1	55830373	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.341000	0.19909	0.105000	0.17753	0.533000	0.62120	ATT		0.393	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		10	232	0	0	0	1	0	10	232					G	57272872	T	G	57272872	3	3	79	1	0	0	0	0	1	0	0	0	13763	1829	64	4	1770	4	RSPRY1	16	57272872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84658	57272872	33081881	16336	26653											
CX3CL1	6376	broad.mit.edu	37	chr16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccacccggaggcaggCggtggggctgctggccttcc	18	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000006053.6	+	3	1136	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	342					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657																																						ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(910-912)gCg>gTg		chemokine (C-X3-C motif) ligand 1							41	43	42					16																	57416775		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416775C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1025C>T	16.37:g.57416775C>T	ENSP00000006053:p.Ala342Val					CX3CL1_ENST00000006053.6_Missense_Mutation_p.A342V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V	p.A304V			P78423	X3CL1_HUMAN			2	3617	+			342			Mucin-like stalk.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.911C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269945	0.80469	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	5.19	0.71726	.	0.607960	0.13882	N	0.356231	T	0.28995	0.0720	L	0.36672	1.1	0.41076	D	0.985482	D	0.89917	1.0	D	0.81914	0.995	T	0.01401	-1.1364	10	0.87932	D	0	-27.547	14.2662	0.66121	0.0:1.0:0.0:0.0	.	342	P78423	X3CL1_HUMAN	V	342	ENSP00000006053:A342V	ENSP00000006053:A342V	A	+	2	0	CX3CL1	55974276	0.987000	0.35691	0.982000	0.44146	0.728000	0.41692	3.446000	0.52928	2.412000	0.81896	0.558000	0.71614	GCG		0.657	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		73	331	0	0	0	1	0	73	331					T	57416775	C	T	57416775	3	4	79	1	0	0	0	0	1	0	0	0	4085	768	27	1	1035	1	CX3CL1	16	57416775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143903	57416775	32937978	16337	26654											
CIAPIN1	57019	broad.mit.edu	37	chr16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaggcatcatgaagattgCtatcactcagaagcaccttt	7	11	3	3	rs575853934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000569979.1	-	6	768	c.722G>T	c.(721-723)aGc>aTc	p.S241I	CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATGAAGATTGCTATCACTCAG	0.582																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(919-921)aGc>aTc		cytokine induced apoptosis inhibitor 1							74	74	74					16																	57463101		2019	4166	6185	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57463101C>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.722G>T	16.37:g.57463101C>A	ENSP00000458000:p.Ser241Ile					CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S241I	p.S307I	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			9	1161	-			307						Missense_Mutation	SNP	ENST00000569979.1	37	c.920G>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818791	0.50633	.	.	ENSG00000005194	ENST00000394391	T	0.32272	1.46	4.73	-0.119	0.13543	.	0.716513	0.14083	N	0.342575	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	1	P;B	0.37636	0.603;0.201	B;B	0.42422	0.387;0.063	T	0.17992	-1.0351	10	0.59425	D	0.04	-2.4236	4.2962	0.10902	0.0:0.3044:0.1827:0.5129	.	294;307	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	I	307	ENSP00000377914:S307I	ENSP00000377914:S307I	S	-	2	0	CIAPIN1	56020602	0.002000	0.14202	0.009000	0.14445	0.753000	0.42808	0.020000	0.13466	0.174000	0.19809	0.561000	0.74099	AGC		0.582	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		39	170	1	0	7.04047e-22	1	7.94894e-22	39	170					A	57463101	C	A	57463101	3	1	79	1	0	0	0	0	1	0	0	0	3428	797	28	3	22	3	CIAPIN1	16	57463101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46326	57463101	32891652	16338	26655											
COQ9	57017	broad.mit.edu	37	chr16	57490417	57490417	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgtctccccttttgtagtCtctgggtctctccagtgcag	9	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567072.1_Splice_Site_p.S127F|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	127					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.e4-1		coenzyme Q9							119	107	111					16																	57490417		2198	4300	6498	SO:0001630	splice_region_variant	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57490417C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.379-1C>T	16.37:g.57490417C>T						COQ9_ENST00000567072.1_Splice_Site_p.S127_splice|COQ9_ENST00000567933.1_Intron	p.S127_splice	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			4	449	+			127					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Splice_Site	SNP	ENST00000262507.6	37	c.378_splice	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578520	0.65878	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	.	0.148137	0.64402	D	0.000008	D	0.82898	0.5137	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.977	D;D;P;P	0.71656	0.974;0.943;0.885;0.723	D	0.84756	0.0759	9	0.72032	D	0.01	-9.4722	18.5507	0.91063	0.0:1.0:0.0:0.0	.	127;127;127;127	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	F	127	.	ENSP00000262507:S127F	S	+	2	0	COQ9	56047918	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.403000	0.66338	2.620000	0.88729	0.563000	0.77884	TCT		0.512	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	Missense_Mutation	87	374	0	0	0	1	0	87	374					T	57490417	C	T	57490417	5	4	79	1	0	0	0	0	0	0	1	0	3760	927	32	2	394	2	COQ9	16	57490417	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27316	57490417	32864336	16339	26656											
DOK4	55715	broad.mit.edu	37	chr16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttagcaggatgaatctgTtgaggaggtctgtttccgag	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000340099.4	-	9	1282	c.911A>C	c.(910-912)aAc>aCc	p.N304T	DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000566936.1_Missense_Mutation_p.N343T|DOK4_ENST00000569548.1_Missense_Mutation_p.N304T	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	304					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(1027-1029)aAc>aCc		docking protein 4							119	97	105					16																	57507359		2198	4300	6498	SO:0001583	missense	0						insulin receptor binding	g.chr16:57507359T>G	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.911A>C	16.37:g.57507359T>G	ENSP00000344277:p.Asn304Thr					DOK4_ENST00000569548.1_Missense_Mutation_p.N304T|DOK4_ENST00000340099.4_Missense_Mutation_p.N304T	p.N343T			Q8TEW6	DOK4_HUMAN			7	1325	-			304					O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.1028A>C	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473549	0.43942	.	.	ENSG00000125170	ENST00000340099	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.743799	0.13215	N	0.404870	D	0.86826	0.6026	N	0.22421	0.69	0.38814	D	0.95547	B	0.16166	0.016	B	0.13407	0.009	T	0.82659	-0.0348	10	0.48119	T	0.1	-22.6822	13.1758	0.59626	0.0:0.0:0.0:1.0	.	304	Q8TEW6	DOK4_HUMAN	T	304	ENSP00000344277:N304T	ENSP00000344277:N304T	N	-	2	0	DOK4	56064860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.356000	0.52269	2.048000	0.60808	0.533000	0.62120	AAC		0.597	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			43	184	0	0	0	1	0	43	184					G	57507359	T	G	57507359	3	3	79	1	0	0	0	0	1	0	0	0	4715	1725	60	4	73	4	DOK4	16	57507359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16942	57507359	32847394	16340	26657											
DOK4	55715	broad.mit.edu	37	chr16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacacacttgacgttgctgAtctcagtcacctgggacagc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000340099.4	-	4	556	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.I62S|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	62	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(184-186)aTc>aGc		docking protein 4							70	57	61					16																	57509522		2198	4300	6498	SO:0001583	missense	0						insulin receptor binding	g.chr16:57509522A>C	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.185T>G	16.37:g.57509522A>C	ENSP00000344277:p.Ile62Ser					DOK4_ENST00000569548.1_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.I62S	p.I62S			Q8TEW6	DOK4_HUMAN			3	482	-			62			PH.		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.185T>G	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726227	0.89298	.	.	ENSG00000125170	ENST00000340099	T	0.73047	-0.71	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	D;P	0.62955	0.909;0.869	T	0.80151	-0.1502	10	0.59425	D	0.04	-0.1115	14.4951	0.67680	1.0:0.0:0.0:0.0	.	62;62	Q8TEW6;B2RD67	DOK4_HUMAN;.	S	62	ENSP00000344277:I62S	ENSP00000344277:I62S	I	-	2	0	DOK4	56067023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.103000	0.63969	0.528000	0.53228	ATC		0.577	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			17	58	0	0	0	1	0	17	58					C	57509522	A	C	57509522	3	2	79	1	0	0	0	0	1	0	0	0	4715	333	12	4	819	4	DOK4	16	57509522	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2163	57509522	32845231	16341	26658											
CCDC102A	92922	broad.mit.edu	37	chr16	57550216	57550216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctcacctcgtcctcagCctgggccagctccttcttga	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57550216C>T	ENST00000258214.2	-	7	1654	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	470										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCGTCCTCAGCCTGGGCCAGC	0.667																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1408-1410)Gct>Act		coiled-coil domain containing 102A							63	49	54					16																	57550216		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550216C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1408G>A	16.37:g.57550216C>T	ENSP00000258214:p.Ala470Thr						p.A470T	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1654	-			470					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1408G>A	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.337255	0.81911	.	.	ENSG00000135736	ENST00000258214	T	0.78816	-1.21	3.97	3.0	0.34707	.	0.060265	0.64402	U	0.000003	T	0.80127	0.4566	M	0.68317	2.08	0.58432	D	0.999997	P	0.46327	0.876	P	0.50192	0.634	T	0.79909	-0.1604	10	0.49607	T	0.09	-7.7109	11.9481	0.52940	0.1752:0.8247:0.0:0.0	.	470	Q96A19	C102A_HUMAN	T	470	ENSP00000258214:A470T	ENSP00000258214:A470T	A	-	1	0	CCDC102A	56107717	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.586000	0.67503	0.863000	0.35553	0.466000	0.42574	GCT		0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		7	214	0	0	0	1	0	7	214					T	57550216	C	T	57550216	3	4	79	1	0	0	0	0	1	0	0	0	2743	739	26	2	256	2	CCDC102A	16	57550216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40694	57550216	32804537	16342	26659											
GPR56	9289	broad.mit.edu	37	chr16	57689823	57689823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtcctgggtgagaaggtCttggggattgtggtacagaa	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000388812.4	+	7	1376	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000562631.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	312					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(934-936)gtC>gtT		G protein-coupled receptor 56							130	125	126					16																	57689823		2198	4300	6498	SO:0001819	synonymous_variant	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689823C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.936C>T	16.37:g.57689823C>T						GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000388812.4_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V	p.V312V			Q9Y653	GPR56_HUMAN			7	1468	+			312					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.936C>T	CCDS32460.1																																																																																				0.562	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			144	679	0	0	0	1	0	144	679					T	57689823	C	T	57689823	2	4	79	1	0	0	0	0	0	0	0	1	6729	900	32	2		2	GPR56	16	57689823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139607	57689823	32664930	16343	26660											
GPR56	9289	broad.mit.edu	37	chr16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgagccggtggccctgAcaggctctgaggctggctgc	16	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000388812.4	+	11	1845	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000562631.1_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	469					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1387-1389)Aca>Gca		G protein-coupled receptor 56							70	58	62					16																	57693425		2198	4300	6498	SO:0001583	missense	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693425A>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1405A>G	16.37:g.57693425A>G	ENSP00000373464:p.Thr469Ala					GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000388812.4_Missense_Mutation_p.T469A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A	p.T463A			Q9Y653	GPR56_HUMAN			11	1919	+			469					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1387A>G	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003116	0.07773	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.9	-3.91	0.04168	GPCR, family 2-like (1);	1.372880	0.04900	N	0.451228	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.003;0.003	T	0.10359	-1.0633	10	0.27785	T	0.31	.	0.6742	0.00864	0.4539:0.1509:0.1772:0.218	.	288;468;463;469;299	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	A	463;469;463;469;463;288;299;469	ENSP00000373465:T463A;ENSP00000373464:T469A;ENSP00000444415:T463A;ENSP00000398034:T469A;ENSP00000444911:T463A;ENSP00000438006:T288A;ENSP00000369016:T299A;ENSP00000369018:T469A	ENSP00000369016:T299A	T	+	1	0	GPR56	56250926	0.000000	0.05858	0.015000	0.15790	0.489000	0.33432	-1.526000	0.02229	-0.598000	0.05806	0.482000	0.46254	ACA		0.622	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			79	336	0	0	0	1	0	79	336					G	57693425	A	G	57693425	3	3	79	1	0	0	0	0	1	0	0	0	6729	275	10	4	1458	4	GPR56	16	57693425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3602	57693425	32661328	16344	26661											
CCDC135	84229	broad.mit.edu	37	chr16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagagacctggagaagaagCtgtcagagatccagatcact	11	9	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M			Q8IY82	CC135_HUMAN		56					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(166-168)Ctg>Atg		coiled-coil domain containing 135							100	92	95					16																	57732027		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57732027C>A																												ENST00000360716.3:c.166C>A	16.37:g.57732027C>A	ENSP00000353942:p.Leu56Met					CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M	p.L56M			Q8IY82	CC135_HUMAN			3	387	+			56					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.166C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368654	0.24771	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20069	2.38;2.1;2.38	4.18	-1.39	0.08997	.	0.136039	0.33553	N	0.004795	T	0.39462	0.1079	M	0.79693	2.465	0.32066	N	0.595015	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.43458	-0.9390	10	0.72032	D	0.01	-8.9274	6.0355	0.19706	0.0:0.3466:0.4672:0.1862	.	56;56	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	56	ENSP00000377869:L56M;ENSP00000338938:L56M;ENSP00000353942:L56M	ENSP00000338938:L56M	L	+	1	2	CCDC135	56289528	0.894000	0.30519	0.393000	0.26258	0.022000	0.10575	-0.012000	0.12699	-0.191000	0.10448	-0.326000	0.08463	CTG		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			46	227	1	0	3.54909e-21	1	3.99219e-21	46	227					A	57732027	C	A	57732027	3	1	79	1	0	0	0	0	1	0	0	0	2776	796	28	3	168	3	CCDC135	16	57732027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38602	57732027	32622726	16345	26662											
CCDC135	84229	broad.mit.edu	37	chr16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactaacatgctggcaggCggtgcgcctcaaggatgagt	14	9	1	1	rs373693140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V			Q8IY82	CC135_HUMAN		769					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		16251	0.001		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2305-2307)gCg>gTg		coiled-coil domain containing 135		C	VAL/ALA	1,4391	2.1+/-5.4	0,1,2195	45	47	46		2306	4.2	0.9	16		46	0,8594		0,0,4297	no	missense	CCDC135	NM_032269.5	64	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	769/875	57762411	1,12985	2196	4297	6493	SO:0001583	missense	84229					cytoplasm		g.chr16:57762411C>T																												ENST00000360716.3:c.2306C>T	16.37:g.57762411C>T	ENSP00000353942:p.Ala769Val					CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V	p.A769V			Q8IY82	CC135_HUMAN			17	2527	+			769					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2306C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540465	0.65085	2.28E-4	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.53857	0.6;0.6;0.6	5.15	4.19	0.49359	.	0.119998	0.56097	D	0.000040	T	0.54208	0.1844	L	0.58969	1.84	0.50171	D	0.99985	P;D	0.71674	0.883;0.998	B;P	0.49192	0.146;0.602	T	0.55842	-0.8077	10	0.42905	T	0.14	-27.7712	11.8083	0.52169	0.0:0.9138:0.0:0.0862	.	704;769	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	769;704;769	ENSP00000377869:A769V;ENSP00000338938:A704V;ENSP00000353942:A769V	ENSP00000338938:A704V	A	+	2	0	CCDC135	56319912	0.998000	0.40836	0.943000	0.38184	0.601000	0.36947	4.120000	0.57897	2.399000	0.81585	0.491000	0.48974	GCG		0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			59	271	0	0	0	1	0	59	271					T	57762411	C	T	57762411	3	4	79	1	0	0	0	0	1	0	0	0	2776	768	27	1	2364	1	CCDC135	16	57762411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30384	57762411	32592342	16346	26663											
KATNB1	3801	broad.mit.edu	37	chr16	57789369	57789369	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccacaagaacctggAcactgtgcgggctgtgtgga	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57789369A>G	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.D510G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AAGAACCTGGACACTGTGCGG	0.657																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)gAc>gGc		katanin p80 (WD repeat containing) subunit B 1							107	96	100					16																	57789369		2198	4300	6498	SO:0001628	intergenic_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57789369A>G	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57789369A>G							p.D510G	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			16	1921	+		all_neural(199;0.223)	510			Interaction with KATNA1 and NDEL1 (By similarity).		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1529A>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359970	0.82353	.	.	ENSG00000140854	ENST00000379661	T	0.54479	0.57	5.06	5.06	0.68205	.	0.093041	0.64402	D	0.000001	T	0.63165	0.2488	M	0.64997	1.995	0.58432	D	0.999999	P	0.52170	0.951	P	0.54431	0.752	T	0.67341	-0.5695	10	0.66056	D	0.02	-2.0978	13.9947	0.64390	1.0:0.0:0.0:0.0	.	510	Q9BVA0	KTNB1_HUMAN	G	510	ENSP00000368982:D510G	ENSP00000368982:D510G	D	+	2	0	KATNB1	56346870	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	8.872000	0.92352	1.921000	0.55644	0.459000	0.35465	GAC		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		96	488	0	0	0	1	0	96	488					G	57789369	A	G	57789369	1	3	79	0	1	0	0	0	0	0	0	0	8017	275	10	4		4	KATNB1	16	57789369	IGR	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26958	57789369	32565384	16347	26664											
KIFC3	3801	broad.mit.edu	37	chr16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcacacaggcagtggccGcgacttccctgcaggggcat	13	15	1	0	rs374127529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000379655.4	-	19	2742	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000540079.2_3'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	829					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCAGTGGCCGCGACTTCCCT	0.662																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2485-2487)Cgg>Tgg		kinesin family member C3		G	,,TRP/ARG	0,4396		0,0,2198	75	57	63		,,2485	2.1	0.5	16		63	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,utr-3,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	,,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging	,,829/834	57792813	1,12993	2198	4299	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57792813G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2485C>T	16.37:g.57792813G>A	ENSP00000368976:p.Arg829Trp					KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000541240.1_3'UTR	p.R829W	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			19	2742	-		all_neural(199;0.224)	829					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.2485C>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685838	0.29962	0.0	1.16E-4	ENSG00000140859	ENST00000379655	T	0.75704	-0.96	3.22	2.09	0.27110	.	0.214284	0.29246	U	0.012717	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.45377	0.478	T	0.58103	-0.7695	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0:0.216:0.784	.	829	Q9BVG8	KIFC3_HUMAN	W	829	ENSP00000368976:R829W	ENSP00000368976:R829W	R	-	1	2	KIFC3	56350314	0.889000	0.30405	0.494000	0.27515	0.090000	0.18270	1.244000	0.32778	0.624000	0.30286	-0.749000	0.03505	CGG		0.662	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		43	241	0	0	0	1	0	43	241					A	57792813	G	A	57792813	3	1	79	1	0	0	0	0	1	0	0	0	8344	1086	38	1	20	1	KIFC3	16	57792813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3444	57792813	32561940	16348	26665											
KIFC3	3801	broad.mit.edu	37	chr16	57794323	57794323	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgttcttctccacgggGgacacctaggggacacgaga	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000379655.4	-	17	2495	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000540079.2_Silent_p.S644S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	746	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACGGGGGACACCTAGG	0.642																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2236-2238)tcC>tcA		kinesin family member C3							64	64	64					16																	57794323		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794323G>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2238C>A	16.37:g.57794323G>T						KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000541240.1_Silent_p.S768S	p.S746S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			17	2495	-		all_neural(199;0.224)	746					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.2238C>A	CCDS10789.2																																																																																				0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		56	330	1	0	2.73361e-28	1	3.17826e-28	56	330					T	57794323	G	T	57794323	2	4	79	1	0	0	0	0	0	0	0	1	8344	1219	43	3		3	KIFC3	16	57794323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1510	57794323	32560430	16349	26666											
KIFC3	3801	broad.mit.edu	37	chr16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcccgtctggccgtacGcaaagatgcagacattgaag	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000379655.4	-	12	1834	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	526	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGTACGCAAAGATGCA	0.637																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1576-1578)gCg>gTg		kinesin family member C3							69	59	63					16																	57798095		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57798095G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1577C>T	16.37:g.57798095G>A	ENSP00000368976:p.Ala526Val					KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V	p.A526V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1834	-		all_neural(199;0.224)	526			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1577C>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	g	23.9	4.475183	0.84640	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.02	5.02	0.67125	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83953	2.67	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	0.75020	0.971;0.951;0.98;0.975;0.985;0.971;0.959	T	0.79773	-0.1662	10	0.87932	D	0	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	548;468;384;424;231;526;387	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	V	526;526;387;548;424;384;468	ENSP00000368976:A526V;ENSP00000401696:A526V;ENSP00000396399:A387V;ENSP00000442008:A548V;ENSP00000438805:A424V;ENSP00000444012:A384V;ENSP00000444884:A468V	ENSP00000368976:A526V	A	-	2	0	KIFC3	56355596	1.000000	0.71417	0.908000	0.35775	0.289000	0.27227	9.820000	0.99359	2.345000	0.79718	0.552000	0.68991	GCG		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		42	244	0	0	0	1	0	42	244					A	57798095	G	A	57798095	3	1	79	1	0	0	0	0	1	0	0	0	8344	1087	38	1	965	1	KIFC3	16	57798095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3772	57798095	32556658	16350	26667											
KIFC3	3801	broad.mit.edu	37	chr16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcggccttgacactcCtgagggcctcctgcagcagc	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000379655.4	-	9	1459	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	401					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTTGACACTCCTGAGGGCCTC	0.657																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1201-1203)aGg>aTg		kinesin family member C3							37	39	39					16																	57803523		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803523C>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1202G>T	16.37:g.57803523C>A	ENSP00000368976:p.Arg401Met					KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M	p.R401M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			9	1459	-		all_neural(199;0.224)	401					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1202G>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006246	0.35415	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75477	-0.86;-0.86;-0.86;-0.87;-0.85;-0.94;-0.87	5.86	-3.14	0.05250	.	0.730840	0.14053	N	0.344569	T	0.67401	0.2889	L	0.39898	1.24	0.09310	N	1	P;P;B;B;B;P;B	0.39181	0.533;0.663;0.24;0.238;0.153;0.533;0.102	B;B;B;B;B;B;B	0.43251	0.155;0.413;0.155;0.357;0.111;0.155;0.078	T	0.63708	-0.6576	10	0.54805	T	0.06	.	13.8935	0.63755	0.0:0.5905:0.0:0.4095	.	423;343;262;299;106;401;262	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	M	401;401;262;423;299;262;343	ENSP00000368976:R401M;ENSP00000401696:R401M;ENSP00000396399:R262M;ENSP00000442008:R423M;ENSP00000438805:R299M;ENSP00000444012:R262M;ENSP00000444884:R343M	ENSP00000368976:R401M	R	-	2	0	KIFC3	56361024	0.001000	0.12720	0.014000	0.15608	0.233000	0.25261	-0.416000	0.07097	-0.452000	0.07087	0.655000	0.94253	AGG		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		52	238	1	0	1.00798e-23	1	1.14783e-23	52	238					A	57803523	C	A	57803523	3	1	79	1	0	0	0	0	1	0	0	0	8344	681	24	3	1352	3	KIFC3	16	57803523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5428	57803523	32551230	16351	26668											
CNGB1	1258	broad.mit.edu	37	chr16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccttcctctcccttgacgtCttgcgagctcttggcctgga	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000251102.8	-	33	3538	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1154Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1160					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3460-3462)Gac>Tac		cyclic nucleotide gated channel beta 1							25	26	26					16																	57918346		2000	4180	6180	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918346C>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3478G>T	16.37:g.57918346C>A	ENSP00000251102:p.Asp1160Tyr					CNGB1_ENST00000251102.8_Missense_Mutation_p.D1160Y	p.D1154Y			Q14028	CNGB1_HUMAN			33	3520	-			1160					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3460G>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302802	0.23736	.	.	ENSG00000070729	ENST00000251102	D	0.96685	-4.09	3.93	2.98	0.34508	.	0.806464	0.11325	N	0.575614	D	0.95414	0.8511	L	0.44542	1.39	0.20703	N	0.999867	D;P	0.54207	0.965;0.94	P;P	0.54312	0.748;0.564	D	0.88986	0.3411	10	0.72032	D	0.01	.	7.4308	0.27126	0.0:0.8823:0.0:0.1177	.	532;1160	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1160	ENSP00000251102:D1160Y	ENSP00000251102:D1160Y	D	-	1	0	CNGB1	56475847	0.004000	0.15560	0.007000	0.13788	0.134000	0.20937	1.662000	0.37418	1.233000	0.43693	0.655000	0.94253	GAC		0.672	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		52	245	1	0	1.19403e-26	1	1.3775e-26	52	245					A	57918346	C	A	57918346	3	1	79	1	0	0	0	0	1	0	0	0	3609	913	32	3	281	3	CNGB1	16	57918346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114823	57918346	32436407	16352	26669											
CNGB1	1258	broad.mit.edu	37	chr16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagaggggtctcactcaGtgtccttcggggtggtgggg	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000251102.8	-	18	1700	c.1640C>A	c.(1639-1641)aCt>aAt	p.T547N	CNGB1_ENST00000564448.1_Missense_Mutation_p.T541N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1621-1623)aCt>aAt		cyclic nucleotide gated channel beta 1							49	51	50					16																	57957180		1885	4109	5994	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57957180G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1640C>A	16.37:g.57957180G>T	ENSP00000251102:p.Thr547Asn					CNGB1_ENST00000251102.8_Missense_Mutation_p.T547N	p.T541N			Q14028	CNGB1_HUMAN			18	1682	-			547					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1622C>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697899	0.48307	.	.	ENSG00000070729	ENST00000251102	T	0.29397	1.57	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.34048	0.0884	L	0.57536	1.79	0.09310	N	0.999999	D	0.58970	0.984	P	0.52672	0.706	T	0.12451	-1.0547	10	0.27785	T	0.31	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	N	547	ENSP00000251102:T547N	ENSP00000251102:T547N	T	-	2	0	CNGB1	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		36	243	1	0	1.04352e-10	1	1.10821e-10	36	243					T	57957180	G	T	57957180	3	4	79	1	0	0	0	0	1	0	0	0	3609	1029	36	3	2179	3	CNGB1	16	57957180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	57957180	32397573	16353	26670											
CNGB1	1258	broad.mit.edu	37	chr16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttggcctcctccccaActtcctcccacagcttctgc	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000251102.8	-	16	1286	c.1226T>G	c.(1225-1227)gTt>gGt	p.V409G	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000564448.1_Missense_Mutation_p.V403G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	409					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1207-1209)gTt>gGt		cyclic nucleotide gated channel beta 1							92	97	95					16																	57973480		1957	4151	6108	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57973480A>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1226T>G	16.37:g.57973480A>C	ENSP00000251102:p.Val409Gly					CNGB1_ENST00000251102.8_Missense_Mutation_p.V409G|CNGB1_ENST00000564654.1_5'UTR	p.V403G			Q14028	CNGB1_HUMAN			16	1268	-			409					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1208T>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095945	0.01843	.	.	ENSG00000070729	ENST00000251102	T	0.28255	1.62	0.637	-0.447	0.12234	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21965	-1.0230	8	0.66056	D	0.02	.	.	.	.	.	409	Q14028	CNGB1_HUMAN	G	409	ENSP00000251102:V409G	ENSP00000251102:V409G	V	-	2	0	CNGB1	56530981	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.191000	0.10448	-0.407000	0.06327	GTT		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		60	269	0	0	0	1	0	60	269					C	57973480	A	C	57973480	3	2	79	1	0	0	0	0	1	0	0	0	3609	43	2	4	2601	4	CNGB1	16	57973480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16300	57973480	32381273	16354	26671											
CNGB1	1258	broad.mit.edu	37	chr16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcaccctgagggcttgGgtctgccacagccacttcct	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000251102.8	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S|CNGB1_ENST00000564448.1_Missense_Mutation_p.P69S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	69					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(205-207)Cca>Tca		cyclic nucleotide gated channel beta 1							49	55	53					16																	57998403		2025	4181	6206	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57998403G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.205C>T	16.37:g.57998403G>A	ENSP00000251102:p.Pro69Ser					CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P69S	p.P69S			Q14028	CNGB1_HUMAN			3	265	-			69					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.205C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459938	0.26248	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96427	-4.01;0.97	3.75	2.8	0.32819	.	0.232817	0.22319	N	0.061633	D	0.92993	0.7770	L	0.43923	1.385	0.09310	N	1	P;B	0.36392	0.551;0.028	B;B	0.38842	0.283;0.009	D	0.88097	0.2817	10	0.87932	D	0	.	7.1745	0.25736	0.1202:0.0:0.8798:0.0	.	69;69	Q14028-3;Q14028	.;CNGB1_HUMAN	S	69	ENSP00000251102:P69S;ENSP00000311670:P69S	ENSP00000251102:P69S	P	-	1	0	CNGB1	56555904	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.624000	0.24462	1.157000	0.42530	0.655000	0.94253	CCA		0.632	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		49	219	0	0	0	1	0	49	219					A	57998403	G	A	57998403	3	1	79	1	0	0	0	0	1	0	0	0	3609	1232	43	2	3704	2	CNGB1	16	57998403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24923	57998403	32356350	16355	26672											
ZNF319	57567	broad.mit.edu	37	chr16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaaggcgcgggtgctgcggGaagcgacggggcggctgtgg	24	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(550-552)Ccc>Acc		zinc finger protein 319							88	108	101					16																	58031620		2197	4298	6495	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031620G>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.550C>A	16.37:g.58031620G>T	ENSP00000299237:p.Pro184Thr						p.P184T	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1172	-			184					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.550C>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774707	0.02951	.	.	ENSG00000166188	ENST00000299237	T	0.02863	4.13	3.86	2.87	0.33458	.	0.103862	0.42172	U	0.000741	T	0.01905	0.0060	L	0.29908	0.895	0.34535	D	0.709588	P	0.39480	0.675	B	0.27887	0.084	T	0.55891	-0.8069	10	0.15499	T	0.54	-12.5787	10.88	0.46933	0.0:0.0:0.8105:0.1895	.	184	Q9P2F9	ZN319_HUMAN	T	184	ENSP00000299237:P184T	ENSP00000299237:P184T	P	-	1	0	ZNF319	56589121	0.969000	0.33509	0.337000	0.25536	0.015000	0.08874	5.094000	0.64523	1.155000	0.42497	0.563000	0.77884	CCC		0.632	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			296	1113	1	0	5.34766e-72	1	6.80125e-72	296	1113					T	58031620	G	T	58031620	3	4	79	1	0	0	0	0	1	0	0	0	17890	1174	41	3	1202	3	ZNF319	16	58031620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33217	58031620	32323133	16356	26673											
MMP15	4324	broad.mit.edu	37	chr16	58079010	58079010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcctgcgggacttcaTgggctgccaggagcacgtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079010T>C	ENST00000219271.3	+	10	2455	c.1670T>C	c.(1669-1671)aTg>aCg	p.M557T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	557					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CGGGACTTCATGGGCTGCCAG	0.667																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1669-1671)aTg>aCg		matrix metallopeptidase 15 (membrane-inserted)							16	16	16					16																	58079010		2197	4300	6497	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079010T>C	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1670T>C	16.37:g.58079010T>C	ENSP00000219271:p.Met557Thr						p.M557T	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			10	2455	+			557			Hemopexin-like 4.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1670T>C	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057026	0.76074	.	.	ENSG00000102996	ENST00000219271	T	0.02472	4.28	4.65	4.65	0.58169	Hemopexin/matrixin (2);	0.037572	0.85682	D	0.000000	T	0.14227	0.0344	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.00163	-1.1969	10	0.87932	D	0	.	12.074	0.53632	0.0:0.0:0.0:1.0	.	557	P51511	MMP15_HUMAN	T	557	ENSP00000219271:M557T	ENSP00000219271:M557T	M	+	2	0	MMP15	56636511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.857000	0.86963	1.958000	0.56883	0.454000	0.30748	ATG		0.667	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		4	100	0	0	0	1	0	4	100					C	58079010	T	C	58079010	3	2	79	1	0	0	0	0	1	0	0	0	9695	1464	51	4	1708	4	MMP15	16	58079010	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47390	58079010	32275743	16357	26674											
MMP15	4324	broad.mit.edu	37	chr16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgggcctcacctacgCgctggtgcagatgcagcgca	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	645					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CTCACCTACGCGCTGGTGCAG	0.652																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1933-1935)gCg>gTg		matrix metallopeptidase 15 (membrane-inserted)							118	120	119					16																	58079274		2197	4298	6495	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079274C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1934C>T	16.37:g.58079274C>T	ENSP00000219271:p.Ala645Val						p.A645V	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			10	2719	+			645					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1934C>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840009	0.16891	.	.	ENSG00000102996	ENST00000219271	T	0.32023	1.47	4.65	1.37	0.22104	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.354298	0.31936	N	0.006838	T	0.10937	0.0267	N	0.03209	-0.39	0.40827	D	0.983555	B	0.28470	0.213	B	0.31495	0.131	T	0.09509	-1.0671	10	0.26408	T	0.33	.	3.1214	0.06392	0.0:0.4653:0.219:0.3157	.	645	P51511	MMP15_HUMAN	V	645	ENSP00000219271:A645V	ENSP00000219271:A645V	A	+	2	0	MMP15	56636775	0.652000	0.27349	0.042000	0.18584	0.046000	0.14306	1.282000	0.33226	0.565000	0.29255	0.555000	0.69702	GCG		0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		16	45	0	0	0	1	0	16	45					T	58079274	C	T	58079274	3	4	79	1	0	0	0	0	1	0	0	0	9695	768	27	1	1972	1	MMP15	16	58079274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	58079274	32275479	16358	26675											
CCDC113	29070	broad.mit.edu	37	chr16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagggagtattttggccActcagaaagtgatgaaatac	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(502-504)Act>Cct		coiled-coil domain containing 113							81	79	80					16																	58292383		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58292383A>C	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.502A>C	16.37:g.58292383A>C	ENSP00000219299:p.Thr168Pro					CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	p.T168P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			4	581	+			168					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.502A>C	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024128	0.35701	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32023	1.47;1.51	5.18	5.18	0.71444	.	0.171358	0.52532	D	0.000061	T	0.27384	0.0672	L	0.55103	1.725	0.34379	D	0.692857	B;B	0.23377	0.012;0.084	B;B	0.24269	0.012;0.052	T	0.32134	-0.9918	10	0.21540	T	0.41	-15.1493	9.5198	0.39129	0.8226:0.1774:0.0:0.0	.	114;168	B4DR20;Q9H0I3	.;CC113_HUMAN	P	114;168	ENSP00000402588:T114P;ENSP00000219299:T168P	ENSP00000219299:T168P	T	+	1	0	CCDC113	56849884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.084000	0.62774	0.533000	0.62120	ACT		0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		76	294	0	0	0	1	0	76	294					C	58292383	A	C	58292383	3	2	79	1	0	0	0	0	1	0	0	0	2757	159	6	4	516	4	CCDC113	16	58292383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	213109	58292383	32062370	16359	26676											
PRSS54	221191	broad.mit.edu	37	chr16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcgtgtggctgccgcattCtgtcttctggagtttgtata	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(610-612)Gaa>Aaa		protease, serine, 54							174	143	154					16																	58318538		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58318538C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.610G>A	16.37:g.58318538C>T	ENSP00000219301:p.Glu204Lys					PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K	p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			6	1004	-			204			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.610G>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.896084	0.17686	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88509	-2.39;-2.39	5.83	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.747469	0.12424	N	0.470150	T	0.81069	0.4746	L	0.29908	0.895	0.19775	N	0.99996	P	0.36438	0.553	B	0.37387	0.248	T	0.67381	-0.5685	10	0.05959	T	0.93	-2.453	10.6438	0.45608	0.0:0.9126:0.0:0.0874	.	204	Q6PEW0	PRS54_HUMAN	K	204;105	ENSP00000219301:E204K;ENSP00000437705:E105K	ENSP00000219301:E204K	E	-	1	0	PRSS54	56876039	0.870000	0.30015	0.731000	0.30826	0.022000	0.10575	2.661000	0.46758	1.467000	0.48044	0.563000	0.77884	GAA		0.463	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		94	385	0	0	0	1	0	94	385					T	58318538	C	T	58318538	3	4	79	1	0	0	0	0	1	0	0	0	12680	922	32	2	585	2	PRSS54	16	58318538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26155	58318538	32036215	16360	26677											
PRSS54	221191	broad.mit.edu	37	chr16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgccaaaatgcatcGctgtgtctgtcttcaggagg	12	10	3	0	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(412-414)gCg>gTg		protease, serine, 54		G	VAL/ALA	0,4396		0,0,2198	279	241	254		413	3.5	0	16	dbSNP_134	254	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS54	NM_001080492.1	64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/396	58319950	1,12995	2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58319950G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.413C>T	16.37:g.58319950G>A	ENSP00000219301:p.Ala138Val					PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V	p.A138V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			5	807	-			138			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.413C>T	CCDS32463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.36	2.213193	0.39102	0.0	1.16E-4	ENSG00000103023	ENST00000219301;ENST00000543437	T;T	0.59906	0.23;0.23	5.5	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437819	0.21555	N	0.072678	T	0.70894	0.3276	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	P	0.62885	0.908	T	0.62656	-0.6808	10	0.54805	T	0.06	-5.0004	11.0333	0.47787	0.0:0.0:0.634:0.366	.	138	Q6PEW0	PRS54_HUMAN	V	138;39	ENSP00000219301:A138V;ENSP00000437705:A39V	ENSP00000219301:A138V	A	-	2	0	PRSS54	56877451	0.018000	0.18449	0.001000	0.08648	0.542000	0.35054	1.985000	0.40668	0.614000	0.30107	-0.284000	0.09977	GCG		0.493	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		56	644	0	0	0	1	0	56	644					A	58319950	G	A	58319950	3	1	79	1	0	0	0	0	1	0	0	0	12680	1087	38	1	786	1	PRSS54	16	58319950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1412	58319950	32034803	16361	26678											
GINS3	64785	broad.mit.edu	37	chr16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcccagacttttatcGgacgttttcgccgcatcatg	8	11	1	1	rs377250240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	144					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(430-432)Gga>Aga		GINS complex subunit 3 (Psf3 homolog)		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4396		0,0,2198	114	90	98		547,196,430	5.9	1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GINS3	NM_001126129.1,NM_001126130.1,NM_022770.3	125,125,125	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	183/256,66/139,144/217	58438412	1,12995	2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58438412G>A	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.430G>A	16.37:g.58438412G>A	ENSP00000318196:p.Gly144Arg					GINS3_ENST00000426538.2_Missense_Mutation_p.G183R|GINS3_ENST00000328514.7_Missense_Mutation_p.G66R	p.G144R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			3	638	+			144					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.430G>A	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370616	0.82573	0.0	1.16E-4	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	.	0.100927	0.64402	D	0.000002	T	0.32133	0.0819	L	0.51914	1.62	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.881	D;P;B	0.67900	0.954;0.875;0.141	T	0.01175	-1.1428	10	0.15952	T	0.53	-0.9754	14.5934	0.68386	0.0714:0.0:0.9286:0.0	.	183;66;144	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	R	183;66;144	ENSP00000401018:G183R;ENSP00000327449:G66R;ENSP00000318196:G144R	ENSP00000318196:G144R	G	+	1	0	GINS3	56995913	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.387000	0.59626	2.824000	0.97209	0.655000	0.94253	GGA		0.463	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		52	222	0	0	0	1	0	52	222					A	58438412	G	A	58438412	3	1	79	1	0	0	0	0	1	0	0	0	6418	1117	39	1	561	1	GINS3	16	58438412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118462	58438412	31916341	16362	26679											
NDRG4	65009	broad.mit.edu	37	chr16	58538164	58538164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacaggtgggggcgtcGcagtttcctcaggggtaggt	18	8	1	0	rs374032396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000570248.1	+	3	340	c.234G>A	c.(232-234)tcG>tcA	p.S78S	NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394282.4_Silent_p.S130S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000563799.1_Silent_p.S96S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	78					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(388-390)tcG>tcA		NDRG family member 4		G	,,,,,,	0,4396		0,0,2198	97	101	100		390,324,288,234,234,330,330	-10.7	0.4	16		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	130/392,108/370,96/358,78/353,78/340,110/372,110/372	58538164	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538164G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.234G>A	16.37:g.58538164G>A						NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000570248.1_Silent_p.S78S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000356752.4_Silent_p.S108S	p.S130S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			5	797	+			78					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.390G>A	CCDS58466.1																																																																																				0.597	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			127	617	0	0	0	1	0	127	617					A	58538164	G	A	58538164	2	1	79	1	0	0	0	0	0	0	0	1	10296	1074	38	1		1	NDRG4	16	58538164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99752	58538164	31816589	16363	26680											
NDRG4	65009	broad.mit.edu	37	chr16	58545414	58545414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagccgcccacaggcCtgcacccactcagagagcag	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000570248.1	+	15	1099	c.993C>A	c.(991-993)gcC>gcA	p.A331A	NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394282.4_Silent_p.A370A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000563799.1_Silent_p.A336A	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	331					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1108-1110)gcC>gcA		NDRG family member 4							61	58	59					16																	58545414		2198	4297	6495	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58545414C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.993C>A	16.37:g.58545414C>A						NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000570248.1_Silent_p.A331A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000356752.4_Silent_p.A348A	p.A370A	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			16	1517	+			331					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.1110C>A	CCDS58466.1																																																																																				0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			116	369	1	0	5.29757e-45	1	6.4907e-45	116	369					A	58545414	C	A	58545414	2	1	79	1	0	0	0	0	0	0	0	1	10296	668	24	3		3	NDRG4	16	58545414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7250	58545414	31809339	16364	26681											
SETD6	79918	broad.mit.edu	37	chr16	58550529	58550529	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagcctcagggttcgCtccctagaactctaccacca	6	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000219315.4	+	4	674	c.624C>A	c.(622-624)cgC>cgA	p.R208R	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.R139R|SETD6_ENST00000310682.2_Silent_p.R184R			Q8TBK2	SETD6_HUMAN	SET domain containing 6	208	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(415-417)cgC>cgA		SET domain containing 6							76	76	76					16																	58550529		2198	4300	6498	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550529C>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.624C>A	16.37:g.58550529C>A						SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.R184R|SETD6_ENST00000219315.4_Silent_p.R208R	p.R139R			Q8TBK2	SETD6_HUMAN			5	473	+			208			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.417C>A	CCDS54013.1																																																																																				0.567	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		50	221	1	0	2.27781e-18	1	2.52731e-18	50	221					A	58550529	C	A	58550529	2	1	79	1	0	0	0	0	0	0	0	1	14185	784	28	3		3	SETD6	16	58550529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	58550529	31804224	16365	26682											
CNOT1	23019	broad.mit.edu	37	chr16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttcttcagcaaagaaCgatctgagaaattggctgca	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58581543C>T	ENST00000317147.5	-	26	3898	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000245138.4_Intron|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCAAAGAACGATCTGAGAA	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(3565-3567)cGt>cAt		CCR4-NOT transcription complex, subunit 1							78	73	75					16																	58581543		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581543C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3566G>A	16.37:g.58581543C>T	ENSP00000320949:p.Arg1189His					CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H	p.R1189H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3898	-			1189					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3566G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545468	0.96488	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19806	2.12;2.12	5.91	5.91	0.95273	.	0.048935	0.85682	D	0.000000	T	0.53400	0.1794	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.77004	0.989;0.664;0.94	T	0.57335	-0.7829	10	0.87932	D	0	.	18.4816	0.90813	0.0:1.0:0.0:0.0	.	1189;1189;1184	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1189;1184;1189	ENSP00000320949:R1189H;ENSP00000413113:R1189H	ENSP00000320949:R1189H	R	-	2	0	CNOT1	57139044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CGT		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		8	217	0	0	0	1	0	8	217					T	58581543	C	T	58581543	3	4	79	1	0	0	0	0	1	0	0	0	3626	536	19	1	3882	1	CNOT1	16	58581543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31014	58581543	31773210	16366	26683											
CNOT1	23019	broad.mit.edu	37	chr16	58621318	58621318	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggtgcaggctttaaactCtgaaacaaaccaaattttag	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTTAAACTCTGAAACAAAC	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.e5-1		CCR4-NOT transcription complex, subunit 1							76	80	79					16																	58621318		2198	4300	6498	SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621318C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.310-1G>A	16.37:g.58621318C>T						CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	5	642	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	SNP	ENST00000317147.5	37		CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372153	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT1	57178819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	.		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	61	281	0	0	0	1	0	61	281					T	58621318	C	T	58621318	5	4	79	1	0	0	0	0	0	0	1	0	3626	927	32	2	7223	2	CNOT1	16	58621318	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39775	58621318	31733435	16367	26684											
SLC38A7	55238	broad.mit.edu	37	chr16	58711301	58711301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgataacgatggctgtgacGtaccaggtacccacgacgct	11	11	0	2	rs111704627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000570101.1	-	5	1522	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	213					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(637-639)taC>taT		solute carrier family 38, member 7		G		6,4390	11.4+/-27.6	0,6,2192	172	126	142		639	-5.1	0.9	16	dbSNP_132	142	0,8600		0,0,4300	no	coding-synonymous	SLC38A7	NM_018231.1		0,6,6492	AA,AG,GG		0.0,0.1365,0.0462		213/463	58711301	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58711301G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.639C>T	16.37:g.58711301G>A						SLC38A7_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000566953.1_Intron	p.Y213Y			Q9NVC3	S38A7_HUMAN			5	1522	-			213					Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	c.639C>T	CCDS10800.1																																																																																				0.557	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		40	358	0	0	0	1	0	40	358					A	58711301	G	A	58711301	2	1	79	1	0	0	0	0	0	0	0	1	14659	1140	40	1		1	SLC38A7	16	58711301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89983	58711301	31643452	16368	26685											
SLC38A7	55238	broad.mit.edu	37	chr16	58713944	58713944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggctgtgtccacacaGggactctgcagcagccgagc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000570101.1	-	2	970	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	29					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(85-87)ccC>ccT		solute carrier family 38, member 7							33	31	32					16																	58713944		2198	4300	6498	SO:0001819	synonymous_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713944G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.87C>T	16.37:g.58713944G>A						SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron	p.P29P			Q9NVC3	S38A7_HUMAN			2	970	-			29					Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	c.87C>T	CCDS10800.1																																																																																				0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		26	131	0	0	0	1	0	26	131					A	58713944	G	A	58713944	2	1	79	1	0	0	0	0	0	0	0	1	14659	987	35	2		2	SLC38A7	16	58713944	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2643	58713944	31640809	16369	26686											
CDH8	1006	broad.mit.edu	37	chr16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttcatttttatgccgcCgtagagttacaaacagcacc	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTATGCCGCCGTAGAGTTAC	0.383																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1933-1935)cGg>cAg		cadherin 8, type 2							61	61	61					16																	61687978		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687978C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1934G>A	16.37:g.61687978C>T	ENSP00000462701:p.Arg645Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2888	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	645					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1934G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	CDH8	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	444	0	0	0	1	0	8	444					T	61687978	C	T	61687978	3	4	79	1	0	0	0	0	1	0	0	0	3125	652	23	1	469	1	CDH8	16	61687978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2974034	61687978	28666775	16370	26687											
CDH8	1006	broad.mit.edu	37	chr16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggcgttgtcattgacaTccagcactttaatagcaaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000577390.1	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATTGACATCCAGCACTTT	0.403																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1462-1464)gAt>gGt		cadherin 8, type 2							191	174	180					16																	61761071		2203	4299	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61761071T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1463A>G	16.37:g.61761071T>C	ENSP00000462701:p.Asp488Gly					CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G	p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	9	2417	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	488			Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1463A>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900754	0.92035	.	.	ENSG00000150394	ENST00000299345	T	0.02944	4.1	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	T	0.56956	-0.7893	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	304;488	Q3LID3;P55286	.;CADH8_HUMAN	G	488	ENSP00000299345:D488G	ENSP00000299345:D488G	D	-	2	0	CDH8	60318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	GAT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		154	643	0	0	0	1	0	154	643					C	61761071	T	C	61761071	3	2	79	1	0	0	0	0	1	0	0	0	3125	1435	50	4	952	4	CDH8	16	61761071	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73093	61761071	28593682	16371	26688											
CDH8	1006	broad.mit.edu	37	chr16	61891126	61891126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtcggtcgcagtgacGttagtgacagatgtacctaa	12	9	1	3	rs113885361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000577390.1	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCGCAGTGACGTTAGTGACAG	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		16997	0.002		0.0	False		,,,				2504	0.0					ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(562-564)aaC>aaT		cadherin 8, type 2							68	62	64					16																	61891126		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891126G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.564C>T	16.37:g.61891126G>A						CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N	p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1518	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	188			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.564C>T	CCDS10802.1																																																																																				0.363	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		12	234	0	0	0	1	0	12	234					A	61891126	G	A	61891126	2	1	79	1	0	0	0	0	0	0	0	1	3125	1136	40	1		1	CDH8	16	61891126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130055	61891126	28463627	16372	26689											
CDH11	1009	broad.mit.edu	37	chr16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccggagcccaggtctaGgcatgtactgatactcaggt	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000566827.1_Missense_Mutation_p.P578H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCAGGTCTAGGCATGTACTG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(2110-2112)cCt>cAt		cadherin 11, type 2, OB-cadherin (osteoblast)							131	123	126					16																	64981786		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981786G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2111C>A	16.37:g.64981786G>T	ENSP00000268603:p.Pro704His	TSP Lung(24;0.17)				CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P578H	p.P704H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2726	-		Ovarian(137;0.0973)	704					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2111C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215385	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78816	-1.21	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.197764	0.53938	D	0.000052	D	0.86772	0.6013	M	0.66939	2.045	0.53688	D	0.99997	D	0.67145	0.996	D	0.67231	0.95	T	0.83101	-0.0128	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	704	P55287	CAD11_HUMAN	H	704;687	ENSP00000268603:P704H	ENSP00000268603:P704H	P	-	2	0	CDH11	63539287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.941000	0.99782	0.655000	0.94253	CCT		0.512	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		26	623	1	0	2.79863e-10	1	2.965e-10	26	623					T	64981786	G	T	64981786	3	4	79	1	0	0	0	0	1	0	0	0	3106	1000	35	3	283	3	CDH11	16	64981786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3090660	64981786	25372967	16373	26690											
CDH11	1009	broad.mit.edu	37	chr16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaaggaccctaatggCcactgggactttggcttcct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000268603.4	-	10	2038	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000566827.1_Missense_Mutation_p.A349T|CDH11_ENST00000394156.3_Missense_Mutation_p.A475T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1423-1425)Gcc>Acc		cadherin 11, type 2, OB-cadherin (osteoblast)							105	91	96					16																	65005935		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005935C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1423G>A	16.37:g.65005935C>T	ENSP00000268603:p.Ala475Thr	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T	p.A475T			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	10	1876	-		Ovarian(137;0.0973)	475			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1423G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.02682	4.2;4.2	5.91	4.95	0.65309	Cadherin (5);Cadherin-like (1);	0.325201	0.36628	N	0.002483	T	0.02380	0.0073	N	0.11673	0.155	0.42665	D	0.99349	B;B	0.23128	0.063;0.08	B;B	0.26864	0.055;0.074	T	0.58584	-0.7611	10	0.22706	T	0.39	.	15.5412	0.76048	0.139:0.8609:0.0:0.0	.	475;475	P55287-2;P55287	.;CAD11_HUMAN	T	475;475;458	ENSP00000268603:A475T;ENSP00000377711:A475T	ENSP00000268603:A475T	A	-	1	0	CDH11	63563436	0.734000	0.28142	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	1.484000	0.48361	0.655000	0.94253	GCC		0.473	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		28	195	0	0	0	1	0	28	195					T	65005935	C	T	65005935	3	4	79	1	0	0	0	0	1	0	0	0	3106	739	26	2	983	2	CDH11	16	65005935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24149	65005935	25348818	16374	26691											
CDH11	1009	broad.mit.edu	37	chr16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgcaggtgcccccgccGctctggggcaaaggcatggc	17	15	1	0	rs547313548	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000268603.4	-	3	694	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.R27W|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	27					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		18947	0.0		0.0	False		,,,				2504	0.0					ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(79-81)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							18	21	20					16																	65038694		2202	4299	6501	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038694G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.79C>T	16.37:g.65038694G>A	ENSP00000268603:p.Arg27Trp	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.R27W|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR	p.R27W			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	532	-		Ovarian(137;0.0973)	27					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.79C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948665	0.18356	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.33	0.28932	.	0.534254	0.19811	N	0.105525	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.0;0.75	B;B	0.37346	0.0;0.247	T	0.18147	-1.0346	10	0.66056	D	0.02	.	7.7322	0.28793	0.0908:0.0:0.4795:0.4297	.	27;27	P55287-2;P55287	.;CAD11_HUMAN	W	27	ENSP00000268603:R27W;ENSP00000377711:R27W	ENSP00000268603:R27W	R	-	1	2	CDH11	63596195	0.503000	0.26115	0.996000	0.52242	0.546000	0.35178	0.589000	0.23939	0.692000	0.31613	0.591000	0.81541	CGG		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		11	55	0	0	0	1	0	11	55					A	65038694	G	A	65038694	3	1	79	1	0	0	0	0	1	0	0	0	3106	1086	38	1	2355	1	CDH11	16	65038694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32759	65038694	25316059	16375	26692											
CDH5	1003	broad.mit.edu	37	chr16	66420804	66420804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgcagagacaggagaCgtgttcgccattgagaggct	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	101	Cadherin 1. {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)			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)	AGACAGGAGACGTGTTCGCCA	0.512																																						ENST00000341529.3																			0				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						c.(301-303)gaC>gaT		cadherin 5, type 2 (vascular endothelium)							99	85	90					16																	66420804		2202	4300	6502	SO:0001819	synonymous_variant	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.chr16:66420804C>T	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.303C>T	16.37:g.66420804C>T						CDH5_ENST00000563425.2_Silent_p.D101D	p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	3	451	+		Ovarian(137;0.0955)	101			Cadherin 1.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.303C>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366899	0.05069	.	.	ENSG00000179776	ENST00000539262	.	.	.	5.79	-6.06	0.02165	.	.	.	.	.	T	0.70245	0.3202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	5	0.87932	D	0	.	15.9692	0.79998	0.0:0.2583:0.0:0.7417	.	.	.	.	M	23	.	ENSP00000437691:T23M	T	+	2	0	CDH5	64978305	0.094000	0.21725	0.583000	0.28640	0.378000	0.30076	-0.609000	0.05635	-1.009000	0.03400	-0.137000	0.14449	ACG		0.512	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		28	157	0	0	0	1	0	28	157					T	66420804	C	T	66420804	2	4	79	1	0	0	0	0	0	0	0	1	3122	535	19	1		1	CDH5	16	66420804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1382110	66420804	23933949	16376	26693											
CDH5	1003	broad.mit.edu	37	chr16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagtgacaagggccagttCttccgagtcacaaaaaaggg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000341529.3	+	8	1402	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	418	Cadherin 4. {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)			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)	AGGGCCAGTTCTTCCGAGTCA	0.488																																						ENST00000341529.3																			0				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						c.(1252-1254)ttC>ttA		cadherin 5, type 2 (vascular endothelium)							91	85	87					16																	66429998		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.chr16:66429998C>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.1254C>A	16.37:g.66429998C>A	ENSP00000344115:p.Phe418Leu					CDH5_ENST00000539168.1_5'UTR	p.F418L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1402	+		Ovarian(137;0.0955)	418			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1254C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778105	0.31502	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.69685	-0.42	4.96	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51753	0.1693	N	0.25789	0.76	0.50813	D	0.999897	B	0.17852	0.024	B	0.29077	0.098	T	0.48927	-0.8991	9	0.34782	T	0.22	.	7.1131	0.25401	0.1751:0.727:0.0:0.0979	.	418	P33151	CADH5_HUMAN	L	418;159	ENSP00000344115:F418L	ENSP00000344115:F418L	F	+	3	2	CDH5	64987499	0.905000	0.30787	0.999000	0.59377	0.590000	0.36582	0.389000	0.20751	2.590000	0.87494	0.561000	0.74099	TTC		0.488	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		71	268	1	0	1.76847e-28	1	2.05822e-28	71	268					A	66429998	C	A	66429998	3	1	79	1	0	0	0	0	1	0	0	0	3122	912	32	3	1280	3	CDH5	16	66429998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9194	66429998	23924755	16377	26694											
CDH5	1003	broad.mit.edu	37	chr16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctcccctgcaggaAcccccacaggaaaagaatcc	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000341529.3	+	9	1511	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	455	Cadherin 4. {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)			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)	CCCTGCAGGAACCCCCACAGG	0.542																																						ENST00000341529.3																			0				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						c.(1363-1365)Acc>Gcc		cadherin 5, type 2 (vascular endothelium)							101	100	100					16																	66431887		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.chr16:66431887A>G	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.1363A>G	16.37:g.66431887A>G	ENSP00000344115:p.Thr455Ala					CDH5_ENST00000539168.1_5'UTR	p.T455A	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1511	+		Ovarian(137;0.0955)	455			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1363A>G	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	5.119	0.207528	0.09704	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.49720	0.77	4.4	0.705	0.18127	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.22389	N	0.999149	B	0.11235	0.004	B	0.17979	0.02	T	0.21314	-1.0249	9	0.15066	T	0.55	.	0.9773	0.01428	0.3435:0.2616:0.0919:0.303	.	455	P33151	CADH5_HUMAN	A	455;196	ENSP00000344115:T455A	ENSP00000344115:T455A	T	+	1	0	CDH5	64989388	0.001000	0.12720	0.013000	0.15412	0.396000	0.30629	1.223000	0.32527	-0.077000	0.12752	0.459000	0.35465	ACC		0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		79	436	0	0	0	1	0	79	436					G	66431887	A	G	66431887	3	3	79	1	0	0	0	0	1	0	0	0	3122	43	2	4	1393	4	CDH5	16	66431887	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1889	66431887	23922866	16378	26695											
CDH5	1003	broad.mit.edu	37	chr16	66436913	66436913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgctgcacatctacggCtacgagggctccgagtccat	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000341529.3	+	12	2344	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CDH5_ENST00000539168.1_Silent_p.G171G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					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)			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)	ACATCTACGGCTACGAGGGCT	0.642																																						ENST00000341529.3																			0				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						c.(2194-2196)ggC>ggT		cadherin 5, type 2 (vascular endothelium)							55	46	49					16																	66436913		2200	4300	6500	SO:0001819	synonymous_variant	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.chr16:66436913C>T	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.2196C>T	16.37:g.66436913C>T						CDH5_ENST00000539168.1_Silent_p.G171G	p.G732G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2344	+		Ovarian(137;0.0955)	732					Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2196C>T	CCDS10804.1																																																																																				0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		28	101	0	0	0	1	0	28	101					T	66436913	C	T	66436913	2	4	79	1	0	0	0	0	0	0	0	1	3122	784	28	2		2	CDH5	16	66436913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5026	66436913	23917840	16379	26696											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctccacccccaccggcgCcatcttgccaactgcagcca	6	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000258198.2	-	1	210	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCCACCGGCGCCATCTTGCCA	0.756																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(4-6)Gcg>Tcg		dynein, cytoplasmic 1, light intermediate chain 2							13	16	15					16																	66785491		2071	4067	6138	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66785491C>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.4G>T	16.37:g.66785491C>A	ENSP00000258198:p.Ala2Ser					DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	1	210	-		Ovarian(137;0.0563)	2					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.4G>T	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576714	0.86645	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.50277	2.17;0.77;0.75;1.16	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.49213	D	0.999766	B;B;P;D	0.63880	0.037;0.001;0.953;0.993	B;B;D;D	0.70227	0.017;0.001;0.935;0.968	T	0.38972	-0.9636	10	0.18276	T	0.48	-9.9804	14.7925	0.69854	0.0:1.0:0.0:0.0	.	2;2;2;2	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	S	2	ENSP00000258198:A2S;ENSP00000368795:A2S;ENSP00000394289:A2S;ENSP00000408566:A2S	ENSP00000258198:A2S	A	-	1	0	DYNC1LI2	65342992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.106000	0.50322	1.985000	0.57927	0.557000	0.71058	GCG		0.756	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		49	205	1	0	9.86064e-34	1	1.16979e-33	49	205					A	66785491	C	A	66785491	3	1	79	1	0	0	0	0	1	0	0	0	4861	739	26	3	1526	3	DYNC1LI2	16	66785491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	348578	66785491	23569262	16380	26697											
RRAD	6236	broad.mit.edu	37	chr16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcgcctttttgccaaggctCtctcgcctccgggtgcctgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes	272					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(814-816)gaG>gaT		Ras-related associated with diabetes							97	77	84					16																	66956090		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956090C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.816G>T	16.37:g.66956090C>A	ENSP00000299759:p.Glu272Asp					RRAD_ENST00000420652.1_Missense_Mutation_p.E272D	p.E272D			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1066	-		Ovarian(137;0.192)	272					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.816G>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241458	0.79912	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77103	2.36	0.51482	D	0.999929	D	0.58970	0.984	D	0.66979	0.948	T	0.75233	-0.3390	10	0.42905	T	0.14	.	8.2417	0.31665	0.0:0.5943:0.0:0.4057	.	272	P55042	RAD_HUMAN	D	272	ENSP00000388744:E272D;ENSP00000299759:E272D	ENSP00000299759:E272D	E	-	3	2	RRAD	65513591	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.302000	0.43637	0.838000	0.34948	0.561000	0.74099	GAG		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		31	336	1	0	6.84511e-11	1	7.27868e-11	31	336					A	66956090	C	A	66956090	3	1	79	1	0	0	0	0	1	0	0	0	13721	912	32	3	114	3	RRAD	16	66956090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170599	66956090	23398663	16381	26698											
CES3	23491	broad.mit.edu	37	chr16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatcctttctctgtagattCtggaagccctgtctttttct	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000303334.4	+	11	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_ENST00000394037.1_Missense_Mutation_p.S432F|CES3_ENST00000543856.1_Missense_Mutation_p.S71F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	432						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1294-1296)tCt>tTt		carboxylesterase 3							303	315	311					16																	67006262		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006262C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1295C>T	16.37:g.67006262C>T	ENSP00000304782:p.Ser432Phe					CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	p.S432F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1366	+		Ovarian(137;0.0563)	432					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.1295C>T	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743562	0.69418	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.09911	2.93;2.93;2.93	5.13	3.15	0.36227	Carboxylesterase, type B (1);	0.442058	0.16934	N	0.193544	T	0.11110	0.0271	L	0.43554	1.36	0.25662	N	0.986	B;B	0.15719	0.003;0.014	B;B	0.22152	0.026;0.038	T	0.20438	-1.0275	10	0.87932	D	0	.	9.6111	0.39663	0.0:0.7787:0.1426:0.0787	.	71;432	F5H242;Q6UWW8	.;EST3_HUMAN	F	432;432;71	ENSP00000304782:S432F;ENSP00000377602:S432F;ENSP00000445559:S71F	ENSP00000304782:S432F	S	+	2	0	CES3	65563763	0.931000	0.31567	0.010000	0.14722	0.051000	0.14879	2.671000	0.46842	0.554000	0.29061	-0.304000	0.09214	TCT		0.498	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		368	1722	0	0	0	1	0	368	1722					T	67006262	C	T	67006262	3	4	79	1	0	0	0	0	1	0	0	0	3280	913	32	2	1337	2	CES3	16	67006262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50172	67006262	23348491	16382	26699											
CES3	23491	broad.mit.edu	37	chr16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaagatacaacagtgGcaccagaagcagaagaacag	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000303334.4	+	13	1745	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*|CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	558						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1672-1674)tgG>tgA		carboxylesterase 3							72	64	67					16																	67006910		2200	4300	6500	SO:0001587	stop_gained	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006910G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1674G>A	16.37:g.67006910G>A	ENSP00000304782:p.Trp558*					CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	p.W558*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1745	+		Ovarian(137;0.0563)	558					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Nonsense_Mutation	SNP	ENST00000303334.4	37	c.1674G>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196124	0.78902	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	.	.	.	3.54	2.58	0.30949	.	0.538057	0.14257	N	0.331073	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5445	0.33413	0.1187:0.0:0.8813:0.0	.	.	.	.	X	558;555;197	.	ENSP00000304782:W558X	W	+	3	0	CES3	65564411	0.025000	0.19082	0.280000	0.24747	0.027000	0.11550	0.550000	0.23345	1.995000	0.58328	0.579000	0.79373	TGG		0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		35	304	0	0	0	1	0	35	304					A	67006910	G	A	67006910	4	1	79	1	0	0	0	0	0	1	0	0	3280	1212	42	2	1724	2	CES3	16	67006910	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	67006910	23347843	16383	26700											
C16orf70	80262	broad.mit.edu	37	chr16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttatttcaggaatgcCtctggctcaggcagtagcca	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(70-72)cCt>cTt		chromosome 16 open reading frame 70							140	128	132					16																	67154021		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67154021C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.71C>T	16.37:g.67154021C>T	ENSP00000219139:p.Pro24Leu					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L	p.P24L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	2	259	+		Ovarian(137;0.192)	24					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.71C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162170	0.57368	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.81497	2.545	0.80722	D	1	P;B	0.46220	0.874;0.339	B;B	0.43508	0.422;0.306	T	0.73678	-0.3907	9	0.54805	T	0.06	-23.057	17.8263	0.88666	0.0:1.0:0.0:0.0	.	2;24	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	L	24	.	ENSP00000219139:P24L	P	+	2	0	C16orf70	65711522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.971000	0.76105	2.805000	0.96524	0.655000	0.94253	CCT		0.458	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		79	402	0	0	0	1	0	79	402					T	67154021	C	T	67154021	3	4	79	1	0	0	0	0	1	0	0	0	1834	681	24	2	77	2	C16orf70	16	67154021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147111	67154021	23200732	16384	26701											
C16orf70	80262	broad.mit.edu	37	chr16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagagtgtagatgttcttcGagatggaactggacctgcag	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(613-615)cGa>cAa		chromosome 16 open reading frame 70							282	260	267					16																	67168323		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168323G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.614G>A	16.37:g.67168323G>A	ENSP00000219139:p.Arg205Gln					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q	p.R205Q	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	8	802	+		Ovarian(137;0.192)	205					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.614G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444686	0.63178	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.71036	2.16	0.58432	D	0.999999	P	0.50819	0.939	P	0.47891	0.56	T	0.65191	-0.6228	9	0.24483	T	0.36	-3.9249	19.0219	0.92919	0.0:0.0:1.0:0.0	.	205	Q9BSU1	CP070_HUMAN	Q	205	.	ENSP00000219139:R205Q	R	+	2	0	C16orf70	65725824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.835000	0.97688	0.650000	0.86243	CGA		0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		277	1172	0	0	0	1	0	277	1172					A	67168323	G	A	67168323	3	1	79	1	0	0	0	0	1	0	0	0	1834	1058	37	1	644	1	C16orf70	16	67168323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14302	67168323	23186430	16385	26702											
B3GNT9	80262	broad.mit.edu	37	chr16	67183522	67183522	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaagcacaaagccaccGccgcccgcgtaggccggata	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67183522G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Silent_p.G289G	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAAGCCACCGCCGCCCGCGT	0.672																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(865-867)ggC>ggT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							6	9	8					16																	67183522		2002	4111	6113	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183522G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183522G>A							p.G289G	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1402	-			289					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.867C>T	CCDS10828.1																																																																																				0.672	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		12	71	0	0	0	1	0	12	71					A	67183522	G	A	67183522	1	1	79	0	1	0	0	0	0	0	0	0	1265	1074	38	1		1	B3GNT9	16	67183522	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15199	67183522	23171231	16386	26703											
TRADD	8717	broad.mit.edu	37	chr16	67190432	67190432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaaggcagcctgcagAgccctgtacactgccacctt	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(130-132)gcT>gcC		TNFRSF1A-associated via death domain							83	72	76					16																	67190432		2198	4300	6498	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190432A>G	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.132T>C	16.37:g.67190432A>G			OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	TRADD_ENST00000566104.1_5'UTR	p.A44A	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	600	-		Ovarian(137;0.0563)	44					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.132T>C	CCDS10829.1																																																																																				0.627	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			81	396	0	0	0	1	0	81	396					G	67190432	A	G	67190432	2	3	79	1	0	0	0	0	0	0	0	1	16489	291	11	4		4	TRADD	16	67190432	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6910	67190432	23164321	16387	26704											
HSF4	3299	broad.mit.edu	37	chr16	67199722	67199722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgtgcgcggccgcgaGcagctactggagcgcgtgcg	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000521374.1	+	3	333	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000264009.8_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	111					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(331-333)gaG>gaA		heat shock transcription factor 4							10	14	13					16																	67199722		1880	3957	5837	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199722G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.333G>A	16.37:g.67199722G>A						HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000521374.1_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E	p.E111E	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1298	+		Ovarian(137;0.0563)	111					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.333G>A	CCDS42175.1																																																																																				0.687	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		24	130	0	0	0	1	0	24	130					A	67199722	G	A	67199722	2	1	79	1	0	0	0	0	0	0	0	1	7428	962	34	2		2	HSF4	16	67199722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9290	67199722	23155031	16388	26705											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtccatgttggttggccGcagggccaccaacatgcagg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W			Q68EN5	K895L_HUMAN	KIAA0895-like	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(430-432)Cgg>Tgg		KIAA0895-like							92	98	96					16																	67214084		1979	4158	6137	SO:0001583	missense	653319							g.chr16:67214084G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.430C>T	16.37:g.67214084G>A	ENSP00000290881:p.Arg144Trp					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W	p.R144W			Q68EN5	K895L_HUMAN			3	1356	-			144					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.430C>T	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581171	0.65992	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.58101	1.795	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72551	-0.4259	9	0.87932	D	0	-22.2723	11.5454	0.50690	0.0:0.0:0.6661:0.3339	.	144;144	Q68EN5-2;Q68EN5	.;K895L_HUMAN	W	144	.	ENSP00000290881:R144W	R	-	1	2	KIAA0895L	65771585	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.174000	0.16743	1.245000	0.43885	0.555000	0.69702	CGG		0.587	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		32	391	0	0	0	1	0	32	391					A	67214084	G	A	67214084	3	1	79	1	0	0	0	0	1	0	0	0	8228	1086	38	1	1009	1	KIAA0895L	16	67214084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14362	67214084	23140669	16389	26706											
EXOC3L	283849	broad.mit.edu	37	chr16	67221403	67221403	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgggcctgctccagGccctcctgtagtgccctcag	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67221403G>T	ENST00000314586.6	-	5	1005	c.765C>A	c.(763-765)ggC>ggA	p.G255G	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	255	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGCTCCAGGCCCTCCTGTA	0.687																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(763-765)ggC>ggA		exocyst complex component 3-like 1							18	24	22					16																	67221403		2193	4287	6480	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221403G>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.765C>A	16.37:g.67221403G>T						EXOC3L1_ENST00000562887.1_Intron	p.G255G	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	1005	-			255			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.765C>A	CCDS10832.1																																																																																				0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		25	214	1	0	1.55469e-16	1	1.70887e-16	25	214					T	67221403	G	T	67221403	2	4	79	1	0	0	0	0	0	0	0	1	5322	1190	42	3		3	EXOC3L	16	67221403	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7319	67221403	23133350	16390	26707											
E2F4	1874	broad.mit.edu	37	chr16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgggcagaagaagtaccaGattcacctgaagagtgtgag	13	6	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	180	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(538-540)caG>caT		E2F transcription factor 4, p107/p130-binding							106	102	103					16																	67228615		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67228615G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.540G>T	16.37:g.67228615G>T	ENSP00000368686:p.Gln180His					E2F4_ENST00000564718.1_3'UTR	p.Q180H	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	6	599	+		Ovarian(137;0.0563)	180			Dimerization (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.540G>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494055	0.44352	.	.	ENSG00000205250	ENST00000379378	D	0.87029	-2.2	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.85859	2.78	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94264	0.7505	10	0.87932	D	0	-16.4072	13.4026	0.60891	0.0762:0.0:0.9238:0.0	.	180	Q16254	E2F4_HUMAN	H	180	ENSP00000368686:Q180H	ENSP00000368686:Q180H	Q	+	3	2	E2F4	65786116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	1.424000	0.47217	0.655000	0.94253	CAG		0.562	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		67	298	1	0	6.25564e-26	1	7.19412e-26	67	298					T	67228615	G	T	67228615	3	4	79	1	0	0	0	0	1	0	0	0	4885	933	33	3	562	3	E2F4	16	67228615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7212	67228615	23126138	16391	26708											
E2F4	1874	broad.mit.edu	37	chr16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactcccactgggcccaacaAcactggacacccggccactg	8	19	0	0	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	293			T -> P (in dbSNP:rs1801013).		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(877-879)Aca>Tca		E2F transcription factor 4, p107/p130-binding							77	71	73					16																	67229753		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67229753A>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.877A>T	16.37:g.67229753A>T	ENSP00000368686:p.Thr293Ser						p.T293S	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	7	936	+		Ovarian(137;0.0563)	293		T -> P (in dbSNP:rs1801013).			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.877A>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	4.392	0.072297	0.08436	.	.	ENSG00000205250	ENST00000379378	D	0.83914	-1.78	4.64	1.54	0.23209	.	0.534717	0.13958	N	0.351005	T	0.47135	0.1429	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	10	0.05721	T	0.95	-0.1102	4.5922	0.12313	0.25:0.0:0.5966:0.1534	.	293	Q16254	E2F4_HUMAN	S	293	ENSP00000368686:T293S	ENSP00000368686:T293S	T	+	1	0	E2F4	65787254	0.005000	0.15991	0.091000	0.20842	0.420000	0.31355	1.045000	0.30341	0.182000	0.20032	-0.146000	0.13790	ACA		0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		52	320	0	0	0	1	0	52	320					T	67229753	A	T	67229753	3	4	79	1	0	0	0	0	1	0	0	0	4885	43	2	5	903	5	E2F4	16	67229753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138	67229753	23125000	16392	26709											
E2F4	1874	broad.mit.edu	37	chr16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagtaacaGcagcagttcgtccggaccca	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	323	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(967-969)aGc>aTc		E2F transcription factor 4, p107/p130-binding							65	67	66					16																	67229844		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67229844G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.968G>T	16.37:g.67229844G>T	ENSP00000368686:p.Ser323Ile						p.S323I	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	7	1027	+		Ovarian(137;0.0563)	323			Poly-Ser.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.968G>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374558	0.11409	.	.	ENSG00000205250	ENST00000379378	D	0.82984	-1.67	3.78	-2.63	0.06133	.	1.239140	0.05425	N	0.544915	T	0.67449	0.2894	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.48317	-0.9046	10	0.18710	T	0.47	0.0374	4.3173	0.11000	0.4512:0.3471:0.2017:0.0	.	323	Q16254	E2F4_HUMAN	I	323	ENSP00000368686:S323I	ENSP00000368686:S323I	S	+	2	0	E2F4	65787345	0.006000	0.16342	0.228000	0.23943	0.012000	0.07955	-0.660000	0.05317	-0.452000	0.07087	-0.140000	0.14226	AGC		0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		113	481	1	0	1.12924e-63	1	1.42582e-63	113	481					T	67229844	G	T	67229844	3	4	79	1	0	0	0	0	1	0	0	0	4885	971	34	3	994	3	E2F4	16	67229844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	67229844	23124909	16393	26710											
ELMO3	1874	broad.mit.edu	37	chr16	67233304	67233304	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagctcatccagctggaCcaggtcacccggctggtccc	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233304C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.D78D|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Silent_p.D78D|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCCAGCTGGACCAGGTCACCC	0.716																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(232-234)gaC>gaT		engulfment and cell motility 3							28	34	32					16																	67233304		2061	4184	6245	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233304C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233304C>T						ELMO3_ENST00000360833.1_Silent_p.D78D	p.D78D	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	291	+		Ovarian(137;0.0563)	25					A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	c.234C>T	CCDS32464.1																																																																																				0.716	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		40	345	0	0	0	1	0	40	345					T	67233304	C	T	67233304	1	4	79	0	1	0	0	0	0	0	0	0	5085	506	18	2		2	ELMO3	16	67233304	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3460	67233304	23121449	16394	26711											
ELMO3	1874	broad.mit.edu	37	chr16	67233635	67233635	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcagtttgcggatggGcaccggagatacatcaccga	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233635G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000393997.2_Silent_p.G109G|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TTGCGGATGGGCACCGGAGAT	0.672																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(325-327)ggG>ggA		engulfment and cell motility 3							51	59	56					16																	67233635		2089	4202	6291	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233635G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233635G>A						ELMO3_ENST00000360833.1_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR	p.G109G	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	3	384	+		Ovarian(137;0.0563)	56					A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	c.327G>A	CCDS32464.1																																																																																				0.672	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		29	126	0	0	0	1	0	29	126					A	67233635	G	A	67233635	1	1	79	0	1	0	0	0	0	0	0	0	5085	1190	42	2		2	ELMO3	16	67233635	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331	67233635	23121118	16395	26712											
ELMO3	79767	broad.mit.edu	37	chr16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttctgctatgactgcaGcatcgctgaaccttgacagt	8	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000360833.1	+	19	2312	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	716					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2305-2307)aGc>aAc		engulfment and cell motility 3							15	16	16					16																	67237764		1941	4123	6064	SO:0001583	missense	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237764G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2255G>A	16.37:g.67237764G>A	ENSP00000354077:p.Ser752Asn					ELMO3_ENST00000360833.1_Missense_Mutation_p.S752N|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N	p.S769N	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	20	2363	+		Ovarian(137;0.0563)	716					B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37	c.2306G>A		.	.	.	.	.	.	.	.	.	.	G	8.596	0.885780	0.17540	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14766	2.48;2.48	5.32	4.34	0.51931	.	0.124832	0.64402	D	0.000001	T	0.13243	0.0321	L	0.39020	1.185	0.49582	D	0.999802	B;P;P	0.39480	0.181;0.675;0.493	B;B;B	0.41988	0.033;0.372;0.234	T	0.10154	-1.0642	10	0.18710	T	0.47	-11.2324	13.1906	0.59709	0.0:0.3065:0.6935:0.0	.	716;752;769	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	752;769	ENSP00000354077:S752N;ENSP00000377566:S769N	ENSP00000354077:S752N	S	+	2	0	ELMO3	65795265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.302000	0.51849	1.221000	0.43506	0.563000	0.77884	AGC		0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		27	96	0	0	0	1	0	27	96					A	67237764	G	A	67237764	3	1	79	1	0	0	0	0	1	0	0	0	5085	971	34	2	2384	2	ELMO3	16	67237764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4129	67237764	23116989	16396	26713											
SLC9A5	6553	broad.mit.edu	37	chr16	67289057	67289057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttatcatcgtctttggCgagtccctgctcaacgatgc	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(622-624)ggC>ggT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							116	117	117					16																	67289057		2181	4284	6465	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289057C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.624C>T	16.37:g.67289057C>T						SLC9A5_ENST00000561472.2_3'UTR	p.G208G	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	3	689	+		Ovarian(137;0.0563)	208					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.624C>T	CCDS42178.1																																																																																				0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			96	422	0	0	0	1	0	96	422					T	67289057	C	T	67289057	2	4	79	1	0	0	0	0	0	0	0	1	14767	755	27	1		1	SLC9A5	16	67289057	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51293	67289057	23065696	16397	26714											
SLC9A5	6553	broad.mit.edu	37	chr16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagtcagctgctgatgCgacgatcagcctaccgcatc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	514					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGCTGATGCGACGATCAGC	0.592																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1540-1542)Cga>Tga		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							60	66	64					16																	67292264		2071	4214	6285	SO:0001587	stop_gained	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67292264C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1540C>T	16.37:g.67292264C>T	ENSP00000299798:p.Arg514*						p.R514*	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	10	1605	+		Ovarian(137;0.0563)	514					A5PKY7|Q9Y626	Nonsense_Mutation	SNP	ENST00000299798.11	37	c.1540C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	c	36	5.912023	0.97099	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	5.24	4.28	0.50868	.	0.105727	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.837	0.57780	0.4038:0.5962:0.0:0.0	.	.	.	.	X	514;2	.	ENSP00000299798:R514X	R	+	1	2	SLC9A5	65849765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.943000	0.29030	1.445000	0.47624	0.556000	0.70494	CGA		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			52	223	0	0	0	1	0	52	223					T	67292264	C	T	67292264	4	4	79	1	0	0	0	0	0	1	0	0	14767	760	27	1	1578	1	SLC9A5	16	67292264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3207	67292264	23062489	16398	26715											
KCTD19	146212	broad.mit.edu	37	chr16	67333397	67333397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccattgtgtagagCggtttcacggactccaggct	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	285					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTGTAGAGCGGTTTCACGG	0.632																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(853-855)ccG>ccA		potassium channel tetramerization domain containing 19							93	103	100					16																	67333397		2000	4157	6157	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333397C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.855G>A	16.37:g.67333397C>T						KCTD19_ENST00000562860.1_5'UTR	p.P285P	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	910	-		Ovarian(137;0.192)	285					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.855G>A	CCDS42179.1																																																																																				0.632	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		120	675	0	0	0	1	0	120	675					T	67333397	C	T	67333397	2	4	79	1	0	0	0	0	0	0	0	1	8136	755	27	1		1	KCTD19	16	67333397	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41133	67333397	23021356	16399	26716											
TPPP3	51673	broad.mit.edu	37	chr16	67424128	67424128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcttgtaggcgctcacGtagccactgtcgtccaggat	11	12	2	0	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000393957.2_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	160					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(478-480)taC>taT		tubulin polymerization-promoting protein family member 3			,	0,4396		0,0,2198	113	88	97		480,480	-3.5	1	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	160/177,160/177	67424128	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424128G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.480C>T	16.37:g.67424128G>A						TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000393957.2_Silent_p.Y160Y	p.Y160Y			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1321	-		Ovarian(137;0.0563)	160					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.480C>T	CCDS10835.1																																																																																				0.622	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		39	356	0	0	0	1	0	39	356					A	67424128	G	A	67424128	2	1	79	1	0	0	0	0	0	0	0	1	16468	1140	40	1		1	TPPP3	16	67424128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90731	67424128	22930625	16400	26717											
ZDHHC1	29800	broad.mit.edu	37	chr16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcttctttctatcccActccacctggaccggaggcc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	TPPP3_ENST00000393957.2_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000290942.5_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	362					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1084-1086)Tgg>Ggg		zinc finger, DHHC-type containing 1							20	22	21					16																	67429051		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429051A>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1084T>G	16.37:g.67429051A>C	ENSP00000340299:p.Trp362Gly					ZDHHC1_ENST00000566075.1_Intron	p.W362G	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	10	1425	-		Ovarian(137;0.223)	362					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.1084T>G	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761202	0.15914	.	.	ENSG00000159714	ENST00000348579	T	0.36340	1.26	3.72	0.533	0.17121	.	16.041100	0.00166	N	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.20519	T	0.43	.	3.3198	0.07047	0.2081:0.5612:0.0:0.2307	.	362	Q8WTX9	ZDHC1_HUMAN	G	362	ENSP00000340299:W362G	ENSP00000340299:W362G	W	-	1	0	ZDHHC1	65986552	0.000000	0.05858	0.048000	0.18961	0.081000	0.17604	-0.240000	0.08952	0.050000	0.15949	-0.302000	0.09304	TGG		0.637	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		22	123	0	0	0	1	0	22	123					C	67429051	A	C	67429051	3	2	79	1	0	0	0	0	1	0	0	0	17653	159	6	4	381	4	ZDHHC1	16	67429051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4923	67429051	22925702	16401	26718											
ZDHHC1	29800	broad.mit.edu	37	chr16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaaggatgagcagggCggccagggccaggatggcag	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	248					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(742-744)Gcc>Acc		zinc finger, DHHC-type containing 1							31	37	35					16																	67432548		2197	4300	6497	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432548C>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.742G>A	16.37:g.67432548C>T	ENSP00000340299:p.Ala248Thr						p.A248T	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	7	1083	-		Ovarian(137;0.223)	248					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.742G>A	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822471	0.90873	.	.	ENSG00000159714	ENST00000348579	T	0.25085	1.82	5.41	4.46	0.54185	.	0.417736	0.24318	N	0.039579	T	0.36496	0.0969	L	0.49455	1.56	0.29527	N	0.853069	D	0.69078	0.997	P	0.57468	0.821	T	0.19943	-1.0290	10	0.22109	T	0.4	.	13.0988	0.59208	0.0:0.9224:0.0:0.0776	.	248	Q8WTX9	ZDHC1_HUMAN	T	248	ENSP00000340299:A248T	ENSP00000340299:A248T	A	-	1	0	ZDHHC1	65990049	1.000000	0.71417	0.117000	0.21633	0.936000	0.57629	4.549000	0.60726	1.279000	0.44446	0.498000	0.49722	GCC		0.632	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		21	76	0	0	0	1	0	21	76					T	67432548	C	T	67432548	3	4	79	1	0	0	0	0	1	0	0	0	17653	768	27	1	735	1	ZDHHC1	16	67432548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3497	67432548	22922205	16402	26719											
ZDHHC1	29800	broad.mit.edu	37	chr16	67432784	67432784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaactccacgaagacataTgtggccaccagcaccaggag	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	198					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(592-594)acA>acG		zinc finger, DHHC-type containing 1							84	77	79					16																	67432784		2198	4300	6498	SO:0001819	synonymous_variant	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432784T>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.594A>G	16.37:g.67432784T>C							p.T198T	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	6	935	-		Ovarian(137;0.223)	198					O15461	Silent	SNP	ENST00000348579.2	37	c.594A>G	CCDS10836.1																																																																																				0.587	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		14	100	0	0	0	1	0	14	100					C	67432784	T	C	67432784	2	2	79	1	0	0	0	0	0	0	0	1	17653	1451	51	4		4	ZDHHC1	16	67432784	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	236	67432784	22921969	16403	26720											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472759	67472759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctacctgcaccctcgaaGagcagcttgtactcctggcc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000290949.3	-	7	981	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	277					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(829-831)ctC>ctT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							101	98	99					16																	67472759		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472759G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.831C>T	16.37:g.67472759G>A						ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000567694.1_5'UTR	p.L277L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	7	981	-		Ovarian(137;0.0563)	277					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.831C>T	CCDS10838.1																																																																																				0.602	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		155	663	0	0	0	1	0	155	663					A	67472759	G	A	67472759	2	1	79	1	0	0	0	0	0	0	0	1	1174	929	33	2		2	ATP6V0D1	16	67472759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39975	67472759	22881994	16404	26721											
FAM65A	79567	broad.mit.edu	37	chr16	67574550	67574550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtagtggaaagcaggtGtgggacagtgaagaaaccat	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000379312.3	+	10	877	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.V248V|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000540839.3_Silent_p.V268V|FAM65A_ENST00000428437.2_Silent_p.V262V|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(802-804)gtG>gtA		family with sequence similarity 65, member A							248	219	229					16																	67574550		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67574550G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.756G>A	16.37:g.67574550G>A						FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000379312.3_Silent_p.V252V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000566522.1_3'UTR	p.V268V			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	11	1024	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	252					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.804G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410593	0.25465	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.42	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74405	-0.3676	6	0.51188	T	0.08	-9.3239	14.4179	0.67163	0.0:0.0:0.732:0.268	.	.	.	.	M	243	.	ENSP00000389456:V243M	V	+	1	0	FAM65A	66132051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	1.253000	0.44018	0.555000	0.69702	GTG		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		120	567	0	0	0	1	0	120	567					A	67574550	G	A	67574550	2	1	79	1	0	0	0	0	0	0	0	1	5624	1364	48	2		2	FAM65A	16	67574550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101791	67574550	22780203	16405	26722											
FAM65A	79567	broad.mit.edu	37	chr16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtaccactgcagtcGcctcctgctggtgaggctga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000379312.3	+	15	2856	c.2735G>A	c.(2734-2736)cGc>cAc	p.R912H	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	912						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627																																						ENST00000540839.3																			1	Substitution - Missense(1)	p.R908H(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2779-2781)cGc>cAc		family with sequence similarity 65, member A							90	82	85					16																	67578324		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578324G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2735G>A	16.37:g.67578324G>A	ENSP00000368614:p.Arg912His					FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000379312.3_Missense_Mutation_p.R912H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H	p.R927H			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	16	3000	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	912					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2780G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654243	0.29425	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	0.947	0.19555	.	0.690542	0.14688	N	0.304307	T	0.53706	0.1813	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.19445	0.015;0.036;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.37314	-0.9711	10	0.23891	T	0.37	-0.573	11.6031	0.51015	0.3702:0.0:0.6298:0.0	.	922;928;912	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	912;908;928;922	ENSP00000368614:R912H;ENSP00000042381:R908H;ENSP00000400099:R928H	ENSP00000042381:R908H	R	+	2	0	FAM65A	66135825	0.000000	0.05858	0.979000	0.43373	0.997000	0.91878	-0.053000	0.11846	0.321000	0.23259	0.655000	0.94253	CGC		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		129	560	0	0	0	1	0	129	560					A	67578324	G	A	67578324	3	1	79	1	0	0	0	0	1	0	0	0	5624	1087	38	1	2777	1	FAM65A	16	67578324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3774	67578324	22776429	16406	26723											
FAM65A	79567	broad.mit.edu	37	chr16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctgctgcgggaagccCgagtactggaggcagtatgc	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000379312.3	+	16	2936	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R954*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	939						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGGAAGCCCGAGTACTGGA	0.652																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2860-2862)Cga>Tga		family with sequence similarity 65, member A							47	56	53					16																	67578667		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67578667C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2815C>T	16.37:g.67578667C>T	ENSP00000368614:p.Arg939*					FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R939*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*	p.R954*			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3080	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	939					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.2860C>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.616036|7.616036	0.98390|0.98390	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.65|5.65	3.66|3.66	0.41972|0.41972	.|.	.|0.283027	.|0.34245	.|N	.|0.004121	T|.	0.35393|.	0.0930|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.02654	.|T	.|1	-1.3622|-1.3622	14.7684|14.7684	0.69657|0.69657	0.2766:0.7234:0.0:0.0|0.2766:0.7234:0.0:0.0	.|.	.|.	.|.	.|.	L|X	928|939;935;955;949	.|.	.|ENSP00000042381:R935X	P|R	+|+	2|1	0|2	FAM65A|FAM65A	66136168|66136168	0.995000|0.995000	0.38212|0.38212	0.652000|0.652000	0.29579|0.29579	0.910000|0.910000	0.53928|0.53928	4.112000|4.112000	0.57845|0.57845	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		126	513	0	0	0	1	0	126	513					T	67578667	C	T	67578667	4	4	79	1	0	0	0	0	0	1	0	0	5624	644	23	1	2861	1	FAM65A	16	67578667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67578667	22776086	16407	26724											
FAM65A	79567	broad.mit.edu	37	chr16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacccagctccggagcctgtCactgggccctaccttccggg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000379312.3	+	19	3495	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L	FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000540839.3_Missense_Mutation_p.S1140L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1125						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGAGCCTGTCACTGGGCCCT	0.662																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3418-3420)tCa>tTa		family with sequence similarity 65, member A							49	56	54					16																	67579738		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67579738C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3374C>T	16.37:g.67579738C>T	ENSP00000368614:p.Ser1125Leu					FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000379312.3_Missense_Mutation_p.S1125L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L	p.S1140L			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	20	3639	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1125					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3419C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507564	0.85282	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.78003	-1.14;-1.14;-1.14	5.58	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.518270	0.19794	N	0.105918	D	0.83464	0.5260	L	0.42245	1.32	0.33306	D	0.565508	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68039	0.955;0.955;0.955	D	0.88327	0.2966	10	0.87932	D	0	-5.5324	15.6803	0.77364	0.138:0.862:0.0:0.0	.	1135;1141;1125	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	L	1125;1121;1141;1135	ENSP00000368614:S1125L;ENSP00000042381:S1121L;ENSP00000400099:S1141L	ENSP00000042381:S1121L	S	+	2	0	FAM65A	66137239	0.913000	0.31002	1.000000	0.80357	0.940000	0.58332	2.813000	0.48002	1.319000	0.45190	0.655000	0.94253	TCA		0.662	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		37	358	0	0	0	1	0	37	358					T	67579738	C	T	67579738	3	4	79	1	0	0	0	0	1	0	0	0	5624	838	29	2	3432	2	FAM65A	16	67579738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	67579738	22775015	16408	26725											
CTCF	10664	broad.mit.edu	37	chr16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtgtaaagaagacattcCagtgtgagctttgcagttac	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	267					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGACATTCCAGTGTGAGCT	0.388																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(799-801)Cag>Tag		CCCTC-binding factor (zinc finger protein)							131	113	119					16																	67645871		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645871C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.799C>T	16.37:g.67645871C>T	ENSP00000264010:p.Gln267*					CTCF_ENST00000401394.1_Intron	p.Q267*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	4	1243	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	267					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.799C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867881	0.97897	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000264010:Q267X	Q	+	1	0	CTCF	66203372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CAG		0.388	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		36	411	0	0	0	1	0	36	411					T	67645871	C	T	67645871	4	4	79	1	0	0	0	0	0	1	0	0	4011	595	21	2	805	2	CTCF	16	67645871	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66133	67645871	22708882	16409	26726											
CTCF	10664	broad.mit.edu	37	chr16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttccgccagaagcagcttCtcgacatgcacttcaagcgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1612-1614)Ctc>Atc		CCCTC-binding factor (zinc finger protein)							197	163	174					16																	67662366		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662366C>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1612C>A	16.37:g.67662366C>A	ENSP00000264010:p.Leu538Ile					CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	p.L538I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2056	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	538					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1612C>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306403	0.95629	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68624	-0.34;-0.34	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	D	0.85805	0.5782	M	0.91561	3.22	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.67548	0.888;0.952	D	0.88196	0.2880	10	0.72032	D	0.01	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	I	538;210	ENSP00000264010:L538I;ENSP00000384707:L210I	ENSP00000264010:L538I	L	+	1	0	CTCF	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC		0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		135	528	1	0	3.08405e-71	1	3.92057e-71	135	528					A	67662366	C	A	67662366	3	1	79	1	0	0	0	0	1	0	0	0	4011	913	32	3	1638	3	CTCF	16	67662366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16495	67662366	22692387	16410	26727											
RLTPR	146206	broad.mit.edu	37	chr16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccatcgccagggctgccGccatttcagcctgggagact	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	191					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(571-573)cGc>cAc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							24	26	26					16																	67680837		1999	4176	6175	SO:0001583	missense	146206							g.chr16:67680837G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.572G>A	16.37:g.67680837G>A	ENSP00000334958:p.Arg191His					RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	8	900	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	191					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.572G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531042	0.85706	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	4.53	4.53	0.55603	.	0.059925	0.64402	D	0.000003	T	0.69151	0.3079	M	0.63843	1.955	0.44432	D	0.99735	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70346	-0.4897	10	0.51188	T	0.08	-21.1664	15.5787	0.76414	0.0:0.0:1.0:0.0	.	191;191	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	191	ENSP00000334958:R191H;ENSP00000441481:R191H	ENSP00000334958:R191H	R	+	2	0	RLTPR	66238338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.794000	0.62482	2.516000	0.84829	0.563000	0.77884	CGC		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		29	141	0	0	0	1	0	29	141					A	67680837	G	A	67680837	3	1	79	1	0	0	0	0	1	0	0	0	13444	1087	38	1	602	1	RLTPR	16	67680837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18471	67680837	22673916	16411	26728											
C16orf86	388284	broad.mit.edu	37	chr16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcccagcgcctgcGgccgctgtaccagtacgtca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403458.4																			0				endometrium(2)|lung(4)	6						c.(571-573)cGg>cAg		chromosome 16 open reading frame 86							14	15	15					16																	67702121		2193	4292	6485	SO:0001583	missense	388284							g.chr16:67702121G>A		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.572G>A	16.37:g.67702121G>A	ENSP00000384117:p.Arg191Gln		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101		p.R191Q	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	727	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	191					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.572G>A	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	34	5.328238	0.95733	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.64394	0.2594	L	0.29908	0.895	0.32848	D	0.506291	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	8	0.87932	D	0	-14.3871	18.1519	0.89677	0.0:0.0:1.0:0.0	.	191	Q6ZW13	CP086_HUMAN	Q	191	.	ENSP00000384117:R191Q	R	+	2	0	C16orf86	66259622	0.982000	0.34865	0.998000	0.56505	0.953000	0.61014	4.142000	0.58044	2.826000	0.97356	0.563000	0.77884	CGG		0.662	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		17	67	0	0	0	1	0	17	67					A	67702121	G	A	67702121	3	1	79	1	0	0	0	0	1	0	0	0	1844	1116	39	1	586	1	C16orf86	16	67702121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21284	67702121	22652632	16412	26729											
CENPT	80152	broad.mit.edu	37	chr16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtggggggctcgagctcagGaagttgcagctccaggctat	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	135	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGAGCTCAGGAAGTTGCAGC	0.567																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(403-405)Cct>Act		centromere protein T							18	22	21					16																	67865777		1934	4128	6062	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865777G>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.403C>A	16.37:g.67865777G>T	ENSP00000457810:p.Pro135Thr					CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T	p.P135T	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	8	951	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	135					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.403C>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376729	0.82682	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	D;D;D	0.81659	-1.52;-1.52;-1.52	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.89431	0.6713	M	0.74881	2.28	0.42055	D	0.991135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89459	0.3735	10	0.62326	D	0.03	-20.6962	16.3795	0.83443	0.0:0.0:1.0:0.0	.	32;135;135	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	T	135;135;32	ENSP00000400140:P135T;ENSP00000219172:P135T;ENSP00000411594:P32T	ENSP00000219172:P135T	P	-	1	0	CENPT	66423278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	CCT		0.567	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		28	90	1	0	6.07407e-21	1	6.82693e-21	28	90					T	67865777	G	T	67865777	3	4	79	1	0	0	0	0	1	0	0	0	3251	1174	41	3	1318	3	CENPT	16	67865777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163656	67865777	22488976	16413	26730											
EDC4	23644	broad.mit.edu	37	chr16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagccagacagtatggCttcagccgcctcggcactgc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2308-2310)gCt>gTt		enhancer of mRNA decapping 4							98	95	96					16																	67914671		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914671C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2309C>T	16.37:g.67914671C>T	ENSP00000351811:p.Ala770Val						p.A770V	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2548	+		Ovarian(137;0.0563)	770					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2309C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238363	0.95240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.100889	0.64402	D	0.000002	T	0.49423	0.1556	L	0.29908	0.895	0.48395	D	0.999648	D	0.56968	0.978	P	0.50825	0.651	T	0.36744	-0.9735	9	0.25751	T	0.34	-15.198	14.5219	0.67856	0.0:0.8534:0.1466:0.0	.	770	Q6P2E9	EDC4_HUMAN	V	770	.	ENSP00000351811:A770V	A	+	2	0	EDC4	66472172	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.921000	0.70028	2.560000	0.86352	0.591000	0.81541	GCT		0.667	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		191	749	0	0	0	1	0	191	749					T	67914671	C	T	67914671	3	4	79	1	0	0	0	0	1	0	0	0	4924	797	28	2	2379	2	EDC4	16	67914671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48894	67914671	22440082	16414	26731											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139	137	138					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			7	715						7	715	---	---	---	---	-	67963919	T	-	67963919	7	5	79	1	0	1	0	1	0	0	0	0	4039	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	49248	67963919	22390834	16415	26732											
PSMB10	5699	broad.mit.edu	37	chr16	67969889	67969889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcgtctggcgcaggatGcgagtgaccgtggccacgcg	17	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GGCGCAGGATGCGAGTGACCG	0.657																																						ENST00000358514.4																			0				NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(358-360)cgC>cgT		proteasome (prosome, macropain) subunit, beta type, 10							20	24	23					16																	67969889		2190	4280	6470	SO:0001819	synonymous_variant	5699				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr16:67969889G>A	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.360C>T	16.37:g.67969889G>A							p.R120R	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	4	697	-		Ovarian(137;0.0563)	120					B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	c.360C>T	CCDS10853.1																																																																																				0.657	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		48	213	0	0	0	1	0	48	213					A	67969889	G	A	67969889	2	1	79	1	0	0	0	0	0	0	0	1	12722	1306	46	2		2	PSMB10	16	67969889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5970	67969889	22384864	16416	26733											
SLC12A4	6560	broad.mit.edu	37	chr16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaggagccgcgggtacTtcacgtggaggtcctcgtcc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000316341.3	-	17	2260	c.2120A>C	c.(2119-2121)aAg>aCg	p.K707T	SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	707					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2125-2127)aAg>aCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						28	24	25					16																	67980961		2197	4300	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980961T>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2120A>C	16.37:g.67980961T>G	ENSP00000318557:p.Lys707Thr					SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000316341.3_Missense_Mutation_p.K707T	p.K709T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2165	-		Ovarian(137;0.192)	707					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2126A>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706646	0.89018	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.47078	1.49	0.80722	D	1	B;B;P;B;B;B	0.40553	0.09;0.172;0.721;0.138;0.138;0.172	B;B;P;B;B;B	0.45310	0.193;0.052;0.476;0.111;0.111;0.052	D	0.90615	0.4555	10	0.24483	T	0.36	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	709;707;676;701;707;707	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	709;676;701;707;707	ENSP00000395983:K709T;ENSP00000438334:K676T;ENSP00000445962:K701T;ENSP00000343374:K707T;ENSP00000318557:K707T	ENSP00000318557:K707T	K	-	2	0	SLC12A4	66538462	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.182000	0.58310	2.206000	0.71126	0.533000	0.62120	AAG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		11	115	0	0	0	1	0	11	115					G	67980961	T	G	67980961	3	3	79	1	0	0	0	0	1	0	0	0	14435	1609	56	4	1169	4	SLC12A4	16	67980961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11072	67980961	22373792	16417	26734											
SLC12A4	6560	broad.mit.edu	37	chr16	67984390	67984390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcctgctgacaccatcGccatacctgcaggggccacc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000316341.3	-	12	1601	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Silent_p.G489G|SLC12A4_ENST00000572037.1_Silent_p.G439G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	487					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1465-1467)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						63	60	61					16																	67984390		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984390G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1461C>T	16.37:g.67984390G>A						SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000316341.3_Silent_p.G487G	p.G489G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1506	-		Ovarian(137;0.192)	487					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.1467C>T	CCDS10855.1																																																																																				0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		41	184	0	0	0	1	0	41	184					A	67984390	G	A	67984390	2	1	79	1	0	0	0	0	0	0	0	1	14435	1074	38	1		1	SLC12A4	16	67984390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3429	67984390	22370363	16418	26735											
DPEP3	64180	broad.mit.edu	37	chr16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtcaccatcacgatgCcaccgttcttcttctagagg	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	316					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CATCACGATGCCACCGTTCTT	0.567																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1021-1023)gGc>gAc		dipeptidase 3							162	125	137					16																	68011244		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68011244C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1022G>A	16.37:g.68011244C>T	ENSP00000268793:p.Gly341Asp						p.G341D	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	7	1395	-		Ovarian(137;0.192)	316					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1022G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522503	0.85600	.	.	ENSG00000141096	ENST00000268793	T	0.58940	0.3	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88955	0.3389	10	0.87932	D	0	-0.1207	16.2186	0.82243	0.0:1.0:0.0:0.0	.	316	Q9H4B8	DPEP3_HUMAN	D	341	ENSP00000268793:G341D	ENSP00000268793:G341D	G	-	2	0	DPEP3	66568745	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.945000	0.70226	2.420000	0.82092	0.655000	0.94253	GGC		0.567	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		32	128	0	0	0	1	0	32	128					T	68011244	C	T	68011244	3	4	79	1	0	0	0	0	1	0	0	0	4731	739	26	2	535	2	DPEP3	16	68011244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26854	68011244	22343509	16419	26736											
DDX28	55794	broad.mit.edu	37	chr16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcctttctgctctgTcacgatgcttgaggatgtgc	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	389	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCTGCTCTGTCACGATGCTT	0.493																																						ENST00000332395.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1165-1167)gAc>gGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							112	95	101					16																	68055940		2198	4300	6498	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055940T>C	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1166A>G	16.37:g.68055940T>C	ENSP00000332340:p.Asp389Gly						p.D389G	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1830	-		Ovarian(137;0.0563)	389			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000332395.5	37	c.1166A>G	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	1.152	-0.646409	0.03531	.	.	ENSG00000182810	ENST00000332395	T	0.71103	-0.54	5.28	1.61	0.23674	Helicase, C-terminal (1);	0.597438	0.18393	N	0.142606	T	0.44307	0.1287	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.33141	T	0.24	-10.4312	4.0144	0.09637	0.0:0.1847:0.1799:0.6354	.	389	Q9NUL7	DDX28_HUMAN	G	389	ENSP00000332340:D389G	ENSP00000332340:D389G	D	-	2	0	DDX28	66613441	0.000000	0.05858	0.054000	0.19295	0.004000	0.04260	0.787000	0.26858	0.535000	0.28714	-0.256000	0.11100	GAC		0.493	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		75	332	0	0	0	1	0	75	332					C	68055940	T	C	68055940	3	2	79	1	0	0	0	0	1	0	0	0	4366	1667	58	4	460	4	DDX28	16	68055940	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44696	68055940	22298813	16420	26737											
DUS2L	54920	broad.mit.edu	37	chr16	68107975	68107975	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactacaccaacaccaagtaCtgcttgtgccagatgctacg	7	14	0	1	rs536595606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68107975C>A	ENST00000565263.1	+	13	1343	c.849C>A	c.(847-849)taC>taA	p.Y283*	DUS2_ENST00000432752.1_Nonsense_Mutation_p.Y248*|DUS2_ENST00000358896.6_Nonsense_Mutation_p.Y283*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	283					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										ACACCAAGTACTGCTTGTGCC	0.537																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(847-849)taC>taA									129	103	112					16																	68107975		2198	4300	6498	SO:0001587	stop_gained	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68107975C>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.849C>A	16.37:g.68107975C>A	ENSP00000455229:p.Tyr283*					DUS2L_ENST00000358896.6_Nonsense_Mutation_p.Y283*|DUS2L_ENST00000432752.1_Nonsense_Mutation_p.Y248*	p.Y283*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	13	1343	+		Ovarian(137;0.192)	283					A8K3G3|Q4H4D9	Nonsense_Mutation	SNP	ENST00000565263.1	37	c.849C>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370681	0.95900	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	.	.	.	5.65	2.63	0.31362	.	0.067093	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0451	11.0623	0.47955	0.0:0.7935:0.0:0.2065	.	.	.	.	X	283;248	.	ENSP00000351769:Y283X	Y	+	3	2	DUS2L	66665476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.686000	0.46968	0.757000	0.33036	-0.136000	0.14681	TAC		0.537	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		7	293	1	0	0.248553	1	0.24873	7	293					A	68107975	C	A	68107975	4	1	79	1	0	0	0	0	0	1	0	0	4822	576	20	3	891	3	DUS2L	16	68107975	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52035	68107975	22246778	16421	26738											
NFATC3	4775	broad.mit.edu	37	chr16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcactcttctgttttgTcaccatcgtttcagctccaa	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000346183.3	+	2	247	c.223T>C	c.(223-225)Tca>Cca	p.S75P	NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	75			S -> L (in dbSNP:rs2230092).		cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(223-225)Tca>Cca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							217	194	202					16																	68156009		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156009T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.223T>C	16.37:g.68156009T>C	ENSP00000300659:p.Ser75Pro					NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S75P|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|RP11-67A1.2_ENST00000548144.1_RNA	p.S75P	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	447	+		Ovarian(137;0.0563)	75		S -> L (in dbSNP:rs2230092).			O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.223T>C	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127301	0.56721	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.61	0.57282	.	0.646421	0.16210	N	0.224538	T	0.20210	0.0486	L	0.39898	1.24	0.36192	D	0.850152	P;P;P;P	0.51147	0.542;0.942;0.542;0.811	B;P;B;B	0.54401	0.288;0.751;0.288;0.288	T	0.10497	-1.0627	10	0.25106	T	0.35	0.3816	11.5118	0.50498	0.0:0.0709:0.0:0.9291	.	75;75;75;75	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	P	75	ENSP00000264008:S75P;ENSP00000300659:S75P;ENSP00000331324:S75P	ENSP00000331324:S75P	S	+	1	0	NFATC3	66713510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.259000	0.78381	1.101000	0.41535	0.456000	0.33151	TCA		0.408	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		151	546	0	0	0	1	0	151	546					C	68156009	T	C	68156009	3	2	79	1	0	0	0	0	1	0	0	0	10406	1667	58	4	229	4	NFATC3	16	68156009	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48034	68156009	22198744	16422	26739											
NFATC3	4775	broad.mit.edu	37	chr16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacagtatggacttggaCactcattatcacccaggcaa	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000346183.3	+	2	721	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	233	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(697-699)Cac>Tac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							104	103	103					16																	68156483		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156483C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.697C>T	16.37:g.68156483C>T	ENSP00000300659:p.His233Tyr					NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.H233Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y	p.H233Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	921	+		Ovarian(137;0.0563)	233			3 X SP repeats.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.697C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855006	0.17106	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08720	3.06;3.06;3.06	5.28	3.28	0.37604	.	0.224215	0.46442	D	0.000294	T	0.08935	0.0221	L	0.46157	1.445	0.49051	D	0.999746	B;P;B;B	0.41313	0.437;0.745;0.437;0.437	B;B;B;B	0.40375	0.075;0.327;0.12;0.12	T	0.23583	-1.0184	9	.	.	.	-0.3688	10.0157	0.42014	0.1474:0.7807:0.0:0.0719	.	233;233;233;233	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	233	ENSP00000264008:H233Y;ENSP00000300659:H233Y;ENSP00000331324:H233Y	.	H	+	1	0	NFATC3	66713984	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	3.159000	0.50731	0.660000	0.30964	0.563000	0.77884	CAC		0.552	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		57	294	0	0	0	1	0	57	294					T	68156483	C	T	68156483	3	4	79	1	0	0	0	0	1	0	0	0	10406	478	17	2	703	2	NFATC3	16	68156483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474	68156483	22198270	16423	26740											
ESRP2	80004	broad.mit.edu	37	chr16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctttctctcctacaaAcacacccattccttgggggc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000565858.1	-	15	2264	c.2178T>G	c.(2176-2178)tgT>tgG	p.C726W	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.C716W|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	726					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(2146-2148)tgT>tgG		epithelial splicing regulatory protein 2							98	97	97					16																	68264135		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264135A>C	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2178T>G	16.37:g.68264135A>C	ENSP00000454554:p.Cys726Trp		OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1105	ESRP2_ENST00000565858.1_Missense_Mutation_p.C726W	p.C716W			Q9H6T0	ESRP2_HUMAN			15	2686	-			726					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.2148T>G		.	.	.	.	.	.	.	.	.	.	A	16.08	3.020819	0.54576	.	.	ENSG00000103067	ENST00000473183	T	0.19394	2.15	6.06	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.12630	-1.0540	10	0.72032	D	0.01	-10.2521	9.6903	0.40125	0.7449:0.0:0.2551:0.0	.	726;716	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	716	ENSP00000418748:C716W	ENSP00000418748:C716W	C	-	3	2	ESRP2	66821636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.587000	0.46128	0.533000	0.28675	0.533000	0.62120	TGT		0.542	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		75	353	0	0	0	1	0	75	353					C	68264135	A	C	68264135	3	2	79	1	0	0	0	0	1	0	0	0	5277	41	2	4	9	4	ESRP2	16	68264135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107652	68264135	22090618	16424	26741											
ESRP2	80004	broad.mit.edu	37	chr16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgcatgcggaccaaggCtcctgactgggacaacactg	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000565858.1	-	14	2106	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A664T|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	674					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(1990-1992)Gcc>Acc		epithelial splicing regulatory protein 2							91	92	92					16																	68264366		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264366C>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2020G>A	16.37:g.68264366C>T	ENSP00000454554:p.Ala674Thr					ESRP2_ENST00000565858.1_Missense_Mutation_p.A674T	p.A664T			Q9H6T0	ESRP2_HUMAN			14	2528	-			674					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1990G>A		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694056	0.68386	.	.	ENSG00000103067	ENST00000473183	T	0.11277	2.79	5.93	4.98	0.66077	.	0.101915	0.64402	D	0.000002	T	0.12390	0.0301	L	0.39397	1.21	0.80722	D	1	B;B	0.31599	0.33;0.184	B;B	0.37833	0.132;0.259	T	0.11717	-1.0576	10	0.15499	T	0.54	-11.6059	15.2254	0.73348	0.0:0.9327:0.0:0.0673	.	674;664	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	T	664	ENSP00000418748:A664T	ENSP00000418748:A664T	A	-	1	0	ESRP2	66821867	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.900000	0.63252	1.517000	0.48917	0.561000	0.74099	GCC		0.632	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		98	436	0	0	0	1	0	98	436					T	68264366	C	T	68264366	3	4	79	1	0	0	0	0	1	0	0	0	5277	797	28	2	171	2	ESRP2	16	68264366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	68264366	22090387	16425	26742											
PLA2G15	23659	broad.mit.edu	37	chr16	68293398	68293398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctgctttggtgacggCgatggtactgtgaacttgaa	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000219345.5	+	6	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	PLA2G15_ENST00000413021.2_Silent_p.G265G|PLA2G15_ENST00000444212.2_Silent_p.G159G|RP11-96D1.7_ENST00000563175.1_RNA|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	359					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(1075-1077)ggC>ggT		phospholipase A2, group XV							81	74	77					16																	68293398		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293398C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1077C>T	16.37:g.68293398C>T						RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.G159G|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Silent_p.G265G	p.G359G	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	1160	+			359					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.1077C>T	CCDS10864.1																																																																																				0.587	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		63	311	0	0	0	1	0	63	311					T	68293398	C	T	68293398	2	4	79	1	0	0	0	0	0	0	0	1	12034	755	27	1		1	PLA2G15	16	68293398	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29032	68293398	22061355	16426	26743											
PRMT7	54496	broad.mit.edu	37	chr16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaggaaaattgtgaggCcgtgccccacagagccaccg	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(517-519)gCc>gTc		protein arginine methyltransferase 7							63	58	60					16																	68373238		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373238C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.518C>T	16.37:g.68373238C>T	ENSP00000343103:p.Ala173Val					PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V	p.A173V			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	8	1348	+		Ovarian(137;0.192)	173					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.518C>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	PRMT7	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC		0.463	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		52	268	0	0	0	1	0	52	268					T	68373238	C	T	68373238	3	4	79	1	0	0	0	0	1	0	0	0	12588	739	26	2	540	2	PRMT7	16	68373238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79840	68373238	21981515	16427	26744											
PRMT7	54496	broad.mit.edu	37	chr16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggacctgtggcggatccGgagcccctgtggtgactgcg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	531	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGCGGATCCGGAGCCCCTGT	0.617																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(1591-1593)cGg>cAg		protein arginine methyltransferase 7							83	71	75					16																	68387411		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68387411G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1592G>A	16.37:g.68387411G>A	ENSP00000343103:p.Arg531Gln					PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q	p.R531Q			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	16	2422	+		Ovarian(137;0.192)	531					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1592G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897583	0.97081	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.83774	2.66	0.33124	D	0.542121	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.966;0.997;0.91	T	0.67090	-0.5758	10	0.54805	T	0.06	-30.2729	15.8933	0.79318	0.0:0.0:1.0:0.0	.	481;383;531	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	481;481;383;531	ENSP00000414716:R481Q;ENSP00000409324:R481Q;ENSP00000345775:R383Q;ENSP00000343103:R531Q	ENSP00000343103:R531Q	R	+	2	0	PRMT7	66944912	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.756000	0.91651	2.824000	0.97209	0.655000	0.94253	CGG		0.617	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		15	356	0	0	0	1	0	15	356					A	68387411	G	A	68387411	3	1	79	1	0	0	0	0	1	0	0	0	12588	1116	39	1	1646	1	PRMT7	16	68387411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14173	68387411	21967342	16428	26745											
SMPD3	55512	broad.mit.edu	37	chr16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcctaccttgagaaAcagagctcccttagaggcca	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	439					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1315-1317)Ttt>Ctt		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						46	49	48					16																	68404770		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68404770A>G	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1315T>C	16.37:g.68404770A>G	ENSP00000219334:p.Phe439Leu					SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L	p.F439L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1918	-		Ovarian(137;0.0563)	439					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1315T>C	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072488	0.36566	.	.	ENSG00000103056	ENST00000219334	T	0.27890	1.64	5.37	5.37	0.77165	Endonuclease/exonuclease/phosphatase (2);	0.047576	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.47819	D	0.99952	B;B;B	0.21225	0.003;0.053;0.053	B;B;B	0.27715	0.007;0.082;0.082	T	0.05971	-1.0853	10	0.23891	T	0.37	-5.2878	13.319	0.60423	1.0:0.0:0.0:0.0	.	439;439;439	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	439	ENSP00000219334:F439L	ENSP00000219334:F439L	F	-	1	0	SMPD3	66962271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.036000	0.60181	0.533000	0.62120	TTT		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		25	96	0	0	0	1	0	25	96					G	68404770	A	G	68404770	3	3	79	1	0	0	0	0	1	0	0	0	14856	43	2	4	680	4	SMPD3	16	68404770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17359	68404770	21949983	16429	26746											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		11	1993						11	1993	---	---	---	---	-	68718504	A	-	68718504	7	5	79	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	313734	68718504	21636249	16430	26747											
CDH1	999	broad.mit.edu	37	chr16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagctgcacaggggcCtggacgctcggcctgaagtg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	776					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(2326-2328)Ctg>Atg		cadherin 1, type 1, E-cadherin (epithelial)							74	63	67					16																	68863587		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68863587C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2326C>A	16.37:g.68863587C>A	ENSP00000261769:p.Leu776Met					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	p.L776M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	15	2517	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	776					A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2326C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77358	-1.09;-1.09	5.94	5.94	0.96194	Cadherin, cytoplasmic domain (1);	0.000000	0.40064	N	0.001183	D	0.88100	0.6346	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86591	0.1860	10	0.46703	T	0.11	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	715;776	Q9UII8;P12830	.;CADH1_HUMAN	M	776;794;715	ENSP00000261769:L776M;ENSP00000414946:L715M	ENSP00000261769:L776M	L	+	1	2	CDH1	67421088	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.855000	0.62925	2.826000	0.97356	0.561000	0.74099	CTG		0.507	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		51	240	1	0	1.32667e-27	1	1.53764e-27	51	240					A	68863587	C	A	68863587	3	1	79	1	0	0	0	0	1	0	0	0	3104	680	24	3	2384	3	CDH1	16	68863587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145083	68863587	21491166	16431	26748											
HAS3	3038	broad.mit.edu	37	chr16	69143880	69143880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtggggaggcaagcgCgaggtcatgtacacggcctt	16	9	1	1	rs200119038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000569188.1_Silent_p.R194R|HAS3_ENST00000219322.3_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	194					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(580-582)cgC>cgT		hyaluronan synthase 3		C	,,	0,4396		0,0,2198	77	61	67		582,582,582	-3.4	1	16		67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	194/554,194/554,194/282	69143880	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143880C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.582C>T	16.37:g.69143880C>T						HAS3_ENST00000219322.3_Silent_p.R194R|HAS3_ENST00000569188.1_Silent_p.R194R	p.R194R	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	738	+		Ovarian(137;0.101)	194					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.582C>T	CCDS10871.1																																																																																				0.627	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		44	160	0	0	0	1	0	44	160					T	69143880	C	T	69143880	2	4	79	1	0	0	0	0	0	0	0	1	6993	755	27	1		1	HAS3	16	69143880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280293	69143880	21210873	16432	26749											
HAS3	3038	broad.mit.edu	37	chr16	69148647	69148647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaccacctctggatgacCtacgagtcagtggtcacggg	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000569188.1_Silent_p.T380T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	380					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1138-1140)acC>acA		hyaluronan synthase 3							149	129	136					16																	69148647		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148647C>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1140C>A	16.37:g.69148647C>A						HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.T380T	p.T380T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1296	+		Ovarian(137;0.101)	380					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.1140C>A	CCDS10871.1																																																																																				0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		143	535	1	0	1.15162e-75	1	1.46888e-75	143	535					A	69148647	C	A	69148647	2	1	79	1	0	0	0	0	0	0	0	1	6993	668	24	3		3	HAS3	16	69148647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4767	69148647	21206106	16433	26750											
CIRH1A	84916	broad.mit.edu	37	chr16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgttctgcatcattgAcaagtcattggtgagttctt	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000314423.7	+	15	2000	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000563094.1_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	608					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1822-1824)gAc>gCc		cirrhosis, autosomal recessive 1A (cirhin)							163	123	137					16																	69199419		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199419A>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1823A>C	16.37:g.69199419A>C	ENSP00000327179:p.Asp608Ala					CIRH1A_ENST00000314423.7_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A	p.D608A			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1857	+			608					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1823A>C	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218425	0.79464	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.58060	0.87;0.36	6.17	5.08	0.68730	.	0.044316	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74881	2.28	0.58432	D	0.999995	D;D	0.89917	1.0;0.983	D;P	0.77004	0.989;0.808	T	0.73347	-0.4011	10	0.87932	D	0	.	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	608;608	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	608;493	ENSP00000327179:D608A;ENSP00000339164:D493A	ENSP00000327179:D608A	D	+	2	0	CIRH1A	67756920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.048000	0.89442	1.146000	0.42352	0.533000	0.62120	GAC		0.423	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		38	161	0	0	0	1	0	38	161					C	69199419	A	C	69199419	3	2	79	1	0	0	0	0	1	0	0	0	3443	275	10	4	1877	4	CIRH1A	16	69199419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50772	69199419	21155334	16434	26751											
TERF2	7014	broad.mit.edu	37	chr16	69395344	69395344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcctcttccacccaagtCtccttttcttcaaccccatt	1	18	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	463					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1387-1389)gaG>gaA		telomeric repeat binding factor 2							214	187	196					16																	69395344		2198	4300	6498	SO:0001819	synonymous_variant	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69395344C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1389G>A	16.37:g.69395344C>T						TERF2_ENST00000603068.1_Silent_p.E421E	p.E463E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			8	1405	-		Ovarian(137;0.101)	421			HTH myb-type.			Silent	SNP	ENST00000254942.3	37	c.1389G>A																																																																																					0.463	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			90	455	0	0	0	1	0	90	455					T	69395344	C	T	69395344	2	4	79	1	0	0	0	0	0	0	0	1	15814	912	32	2		2	TERF2	16	69395344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195925	69395344	20959409	16435	26752											
NFAT5	10725	broad.mit.edu	37	chr16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactattgcagcaggctacaCagtttcagacaagagaaact	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000354436.2	+	12	2446	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	710					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1900-1902)Cag>Tag		nuclear factor of activated T-cells 5, tonicity-responsive							103	98	100					16																	69725910		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725910C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2128C>T	16.37:g.69725910C>T	ENSP00000346420:p.Gln710*					NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q710*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*	p.Q634*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3452	+			710					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.1900C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348624	0.98228	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	6.08	6.08	0.98989	.	0.270197	0.42964	D	0.000628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.16	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	728;727;634;710;634	.	ENSP00000338806:Q634X	Q	+	1	0	NFAT5	68283411	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	3.648000	0.54410	2.894000	0.99253	0.655000	0.94253	CAG		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		70	309	0	0	0	1	0	70	309					T	69725910	C	T	69725910	4	4	79	1	0	0	0	0	0	1	0	0	10402	479	17	2	2232	2	NFAT5	16	69725910	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330566	69725910	20628843	16436	26753											
NFAT5	10725	broad.mit.edu	37	chr16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttcagacaagagaaaCtcagtctagagagatattac	8	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000354436.2	+	12	2465	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	716					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1918-1920)aCt>aTt		nuclear factor of activated T-cells 5, tonicity-responsive							117	109	112					16																	69725929		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725929C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2147C>T	16.37:g.69725929C>T	ENSP00000346420:p.Thr716Ile					NFAT5_ENST00000354436.2_Missense_Mutation_p.T716I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	p.T640I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3471	+			716					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1919C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537703	0.45176	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.08	5.12	0.69794	.	0.847763	0.11135	N	0.595942	T	0.31167	0.0788	N	0.14661	0.345	0.24227	N	0.995411	B;B;B	0.18166	0.016;0.016;0.026	B;B;B	0.17979	0.009;0.009;0.02	T	0.20907	-1.0261	10	0.32370	T	0.25	-1.521	16.105	0.81213	0.0:0.6288:0.3712:0.0	.	733;716;734	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	734;733;640;716;640	ENSP00000396538:T734I;ENSP00000338806:T640I;ENSP00000346420:T716I;ENSP00000377343:T640I	ENSP00000338806:T640I	T	+	2	0	NFAT5	68283430	0.050000	0.20438	0.968000	0.41197	0.967000	0.64934	1.052000	0.30429	1.556000	0.49512	0.655000	0.94253	ACT		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		66	303	0	0	0	1	0	66	303					T	69725929	C	T	69725929	3	4	79	1	0	0	0	0	1	0	0	0	10402	565	20	2	2251	2	NFAT5	16	69725929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	69725929	20628824	16437	26754											
WWP2	11060	broad.mit.edu	37	chr16	69922018	69922018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtccccacctgctgcaccCttgagtgtgaccccgaatcc	8	18	0	2	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	260					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|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 potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCTGCACCCTTGAGTGTGA	0.557																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(778-780)ccC>ccA		WW domain containing E3 ubiquitin protein ligase 2							147	124	132					16																	69922018		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69922018C>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.780C>A	16.37:g.69922018C>A						WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000356003.2_Silent_p.P260P	p.P260P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			8	881	+			260					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.780C>A	CCDS10885.1																																																																																				0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		105	486	1	0	3.88716e-44	1	4.75385e-44	105	486					A	69922018	C	A	69922018	2	1	79	1	0	0	0	0	0	0	0	1	17470	668	24	3		3	WWP2	16	69922018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196089	69922018	20432735	16438	26755											
WWP2	11060	broad.mit.edu	37	chr16	69971090	69971090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcctggatggcttcaaCgaggtggccccgctggagtg	15	12	1	0	rs144693307	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	729	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|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 potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCTTCAACGAGGTGGCCC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18767	0.0		0.0	False		,,,				2504	0.0					ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2185-2187)aaC>aaT		WW domain containing E3 ubiquitin protein ligase 2		C	,	0,4396		0,0,2198	78	73	75		2187,870	-9.8	0.5	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	729/871,290/432	69971090	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69971090C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2187C>T	16.37:g.69971090C>T						WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N	p.N729N	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			20	2288	+			729			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.2187C>T	CCDS10885.1																																																																																				0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		56	240	0	0	0	1	0	56	240					T	69971090	C	T	69971090	2	4	79	1	0	0	0	0	0	0	0	1	17470	535	19	1		1	WWP2	16	69971090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49072	69971090	20383663	16439	26756											
PDPR	55066	broad.mit.edu	37	chr16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcgcgacgccctcctgCagcagaagcagaatggagtg	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	757					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2269-2271)Cag>Tag		pyruvate dehydrogenase phosphatase regulatory subunit							138	153	148					16																	70190411		2079	4225	6304	SO:0001587	stop_gained	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190411C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2269C>T	16.37:g.70190411C>T	ENSP00000288050:p.Gln757*					PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*	p.Q757*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3226	+			757					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Nonsense_Mutation	SNP	ENST00000288050.4	37	c.2269C>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569369	0.28003	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	.	.	.	6.03	5.05	0.67936	.	0.464135	0.24764	N	0.035792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8745	0.41195	0.2471:0.6157:0.1372:0.0	.	.	.	.	X	757;657;424;102	.	ENSP00000205055:Q424X	Q	+	1	0	PDPR	68747912	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.617000	0.36943	2.868000	0.98415	0.557000	0.71058	CAG		0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		74	579	0	0	0	1	0	74	579					T	70190411	C	T	70190411	4	4	79	1	0	0	0	0	0	1	0	0	11731	711	25	2	2335	2	PDPR	16	70190411	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219321	70190411	20164342	16440	26757											
AARS	118460	broad.mit.edu	37	chr16	70286690	70286690	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagcgcctcctgcagGcagccaacgttcttgcctgt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70286690G>A	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Silent_p.C947C	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCTCCTGCAGGCAGCCAACGT	0.607											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2839-2841)tgC>tgT		alanyl-tRNA synthetase	L-Alanine(DB00160)						102	97	99					16																	70286690		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70286690G>A	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"Mtr3 (mRNA transport regulator 3)-homolog (yeast)"	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70286690G>A	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.C947C	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	21	2984	-		Ovarian(137;0.0365)	947						Silent	SNP	ENST00000435634.1	37	c.2841C>T	CCDS10887.1																																																																																				0.607	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		24	614	0	0	0	1	0	24	614					A	70286690	G	A	70286690	1	1	79	0	1	0	0	0	0	0	0	0	19	1195	42	2		2	AARS	16	70286690	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96279	70286690	20068063	16441	26758											
AARS	118460	broad.mit.edu	37	chr16	70287683	70287683	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggttgctgtcgatgaaCtgcttcgtcttctctaacac	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70287683C>A	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Missense_Mutation_p.Q847H	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TGTCGATGAACTGCTTCGTCT	0.602											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2539-2541)caG>caT		alanyl-tRNA synthetase	L-Alanine(DB00160)						89	93	91					16																	70287683		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287683C>A	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"Mtr3 (mRNA transport regulator 3)-homolog (yeast)"	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287683C>A	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.Q847H	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	19	2684	-		Ovarian(137;0.0365)	847						Missense_Mutation	SNP	ENST00000435634.1	37	c.2541G>T	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	8.936	0.964637	0.18583	.	.	ENSG00000090861	ENST00000261772	T	0.64618	-0.11	5.39	4.44	0.53790	.	0.111909	0.64402	D	0.000009	T	0.49779	0.1577	L	0.29908	0.895	0.50467	D	0.999875	P;P	0.37997	0.614;0.614	B;B	0.39738	0.308;0.252	T	0.51466	-0.8702	10	0.54805	T	0.06	-19.1979	8.2528	0.31737	0.0:0.821:0.0:0.179	.	855;847	E7ETK8;P49588	.;SYAC_HUMAN	H	847	ENSP00000261772:Q847H	ENSP00000261772:Q847H	Q	-	3	2	AARS	68845184	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.955000	0.49121	1.284000	0.44531	0.655000	0.94253	CAG		0.602	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		17	371	1	0	9.16793e-09	1	9.60025e-09	17	371					A	70287683	C	A	70287683	1	1	79	0	1	0	0	0	0	0	0	0	19	564	20	3		3	AARS	16	70287683	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993	70287683	20067070	16442	26759											
FUK	197258	broad.mit.edu	37	chr16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatagggccttgttttggAcatttactaccagggcactg	10	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000288078.6	+	8	828	c.596A>G	c.(595-597)gAc>gGc	p.D199G	FUK_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	199						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(595-597)gAc>gGc		fucokinase							84	86	85					16																	70501802		2057	4212	6269	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70501802A>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.596A>G	16.37:g.70501802A>G	ENSP00000288078:p.Asp199Gly					FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.D231G	p.D199G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			8	828	+		Ovarian(137;0.0694)	199					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.596A>G	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797143	0.70567	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.32988	1.43;1.43	5.17	5.17	0.71159	L-fucokinase (1);	0.123047	0.52532	D	0.000076	T	0.53658	0.1810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	T	0.53940	-0.8367	10	0.44086	T	0.13	-23.5079	14.3028	0.66364	1.0:0.0:0.0:0.0	.	231;199	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	G	199;231	ENSP00000288078:D199G;ENSP00000368192:D231G	ENSP00000288078:D199G	D	+	2	0	FUK	69059303	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.373000	0.73128	2.102000	0.63906	0.459000	0.35465	GAC		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		68	242	0	0	0	1	0	68	242					G	70501802	A	G	70501802	3	3	79	1	0	0	0	0	1	0	0	0	6123	275	10	4	622	4	FUK	16	70501802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214119	70501802	19852951	16443	26760											
COG4	25839	broad.mit.edu	37	chr16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtaagtatagctcactgCgggcattcatcagggtgacc	12	10	3	1	rs146268306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	365					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.R369H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19193	0.0		0.001	False		,,,				2504	0.0					ENST00000323786.5																			1	Substitution - Missense(1)	p.R369H(1)	large_intestine(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1105-1107)cGc>cAc		component of oligomeric golgi complex 4							103	88	93					16																	70534950		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70534950C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1106G>A	16.37:g.70534950C>T	ENSP00000315775:p.Arg369His						p.R369H	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			9	1127	-		Ovarian(137;0.0694)	365					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1106G>A	CCDS10892.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.541253	0.96474	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.55930	0.49	5.84	5.84	0.93424	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78066	-0.2349	10	0.87932	D	0	-10.7016	20.1551	0.98106	0.0:1.0:0.0:0.0	.	275;364;365	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	H	369;365;27	ENSP00000315775:R369H	ENSP00000315775:R369H	R	-	2	0	COG4	69092451	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.427000	0.80284	2.760000	0.94817	0.655000	0.94253	CGC		0.478	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			50	239	0	0	0	1	0	50	239					T	70534950	C	T	70534950	3	4	79	1	0	0	0	0	1	0	0	0	3669	768	27	1	1307	1	COG4	16	70534950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33148	70534950	19819803	16444	26761											
COG4	23450	broad.mit.edu	37	chr16	70557354	70557354	+	5'Flank	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgagctcagcggagatTtcggagcagcggccacctcc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70557354T>G	ENST00000302516.5	+	0	0				COG4_ENST00000393612.4_Missense_Mutation_p.E27D|COG4_ENST00000323786.5_Missense_Mutation_p.E31D|COG4_ENST00000564653.1_Missense_Mutation_p.E31D	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGCGGAGATTTCGGAGCAGC	0.637																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(91-93)gaA>gaC		component of oligomeric golgi complex 4							43	47	45					16																	70557354		2198	4300	6498	SO:0001631	upstream_gene_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70557354T>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582		16.37:g.70557354T>G	Exception_encountered					COG4_ENST00000564653.1_Missense_Mutation_p.E31D|COG4_ENST00000393612.4_Missense_Mutation_p.E27D	p.E31D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			1	114	-		Ovarian(137;0.0694)	27			Interacts with SCFD1.		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.93A>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945891	0.53079	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.46063	0.91;0.88	5.82	3.4	0.38934	.	0.258733	0.44483	D	0.000443	T	0.15132	0.0365	N	0.02539	-0.55	0.20489	N	0.999893	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05699	-1.0869	10	0.37606	T	0.19	-7.5648	4.091	0.09970	0.0:0.1387:0.4325:0.4287	.	26;27	Q6PIW8;Q9H9E3	.;COG4_HUMAN	D	31;27;27	ENSP00000315775:E31D;ENSP00000377236:E27D	ENSP00000315775:E31D	E	-	3	2	COG4	69114855	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.232000	0.17891	2.225000	0.72522	0.460000	0.39030	GAA		0.637	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		69	263	0	0	0	1	0	69	263					G	70557354	T	G	70557354	1	3	79	0	1	0	0	0	0	0	0	0	3669	1838	64	4		4	COG4	16	70557354	5'Flank	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22404	70557354	19797399	16445	26762											
SF3B3	23450	broad.mit.edu	37	chr16	70589013	70589013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaatgagtggaagacCcctggaaagaaaacaattgt	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	538					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGAAGACCCCTGGAAAGA	0.458																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1612-1614)acC>acT		splicing factor 3b, subunit 3, 130kDa							194	185	188					16																	70589013		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589013C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1614C>T	16.37:g.70589013C>T							p.T538T	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1825	+		Ovarian(137;0.0694)	538					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1614C>T	CCDS10894.1																																																																																				0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		68	359	0	0	0	1	0	68	359					T	70589013	C	T	70589013	2	4	79	1	0	0	0	0	0	0	0	1	14202	610	22	2		2	SF3B3	16	70589013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31659	70589013	19765740	16446	26763											
SF3B3	23450	broad.mit.edu	37	chr16	70589061	70589061	+	Silent	SNP	G	G	A													gcagtgaaccagcgacaagtGgtgattgccctgacaggagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	554					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCGACAAGTGGTGATTGCCC	0.468																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1660-1662)gtG>gtA		splicing factor 3b, subunit 3, 130kDa							279	264	269					16																	70589061		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589061G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1662G>A	16.37:g.70589061G>A							p.V554V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1873	+		Ovarian(137;0.0694)	554					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1662G>A	CCDS10894.1																																																																																				0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		119	502	0	0	0	1	0	119	502					A	70589061	G	A	70589061	2	1	79	1	0	0	0	0	0	0	0	1	14202	1335	47	2		2	SF3B3	16	70589061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	70589061	19765692	16447	26764	168	2									
SF3B3	23450	broad.mit.edu	37	chr16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A													accagcgacaagtggtgattGccctgacaggaggagagctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	557					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGTGATTGCCCTGACAGG	0.473																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1669-1671)Gcc>Acc		splicing factor 3b, subunit 3, 130kDa							287	271	277					16																	70589068		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589068G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1669G>A	16.37:g.70589068G>A	ENSP00000305790:p.Ala557Thr						p.A557T	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1880	+		Ovarian(137;0.0694)	557					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1669G>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890067	0.91889	.	.	ENSG00000189091	ENST00000302516	T	0.19105	2.17	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79258	2.445	0.80722	D	1	P	0.45011	0.848	P	0.47941	0.562	T	0.23797	-1.0178	10	0.59425	D	0.04	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	557	Q15393	SF3B3_HUMAN	T	557	ENSP00000305790:A557T	ENSP00000305790:A557T	A	+	1	0	SF3B3	69146569	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.835000	0.99442	2.720000	0.93068	0.591000	0.81541	GCC		0.473	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		98	529	0	0	0	1	0	98	529					A	70589068	G	A	70589068	3	1	79	1	0	0	0	0	1	0	0	0	14202	1319	46	2	1715	2	SF3B3	16	70589068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	70589068	19765685	16448	26765	168	2									
SF3B3	23450	broad.mit.edu	37	chr16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccacgctgatccctggaGgctcagaatcacttgtctat	9	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1113					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCCCTGGAGGCTCAGAATC	0.532																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3337-3339)Ggc>Tgc		splicing factor 3b, subunit 3, 130kDa							185	129	148					16																	70603981		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70603981G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3337G>T	16.37:g.70603981G>T	ENSP00000305790:p.Gly1113Cys						p.G1113C	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			24	3548	+		Ovarian(137;0.0694)	1113					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3337G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407359	0.83230	.	.	ENSG00000189091	ENST00000302516	T	0.48201	0.82	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83781	0.0225	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1113	Q15393	SF3B3_HUMAN	C	1113	ENSP00000305790:G1113C	ENSP00000305790:G1113C	G	+	1	0	SF3B3	69161482	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		33	283	1	0	1.74807e-11	1	1.86564e-11	33	283					T	70603981	G	T	70603981	3	4	79	1	0	0	0	0	1	0	0	0	14202	1000	35	3	3427	3	SF3B3	16	70603981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14913	70603981	19750772	16449	26766											
SF3B3	23450	broad.mit.edu	37	chr16	70605707	70605707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatatccggacccgctaCgccttctgagccctcctttc	9	16	1	1	rs376546377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1215					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCCGCTACGCCTTCTGAG	0.552																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3643-3645)taC>taT		splicing factor 3b, subunit 3, 130kDa		C		0,4396		0,0,2198	89	77	81		3645	-2	1	16		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SF3B3	NM_012426.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		1215/1218	70605707	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70605707C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3645C>T	16.37:g.70605707C>T							p.Y1215Y	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			26	3856	+		Ovarian(137;0.0694)	1215					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3645C>T	CCDS10894.1																																																																																				0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		58	269	0	0	0	1	0	58	269					T	70605707	C	T	70605707	2	4	79	1	0	0	0	0	0	0	0	1	14202	547	19	1		1	SF3B3	16	70605707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	70605707	19749046	16450	26767											
MTSS1L	92154	broad.mit.edu	37	chr16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccattcacggagtaGcagtcgtagtcggagcctgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	496					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1486-1488)tgC>tgA		metastasis suppressor 1-like							23	22	22					16																	70698336		2196	4298	6494	SO:0001587	stop_gained	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698336G>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1488C>A	16.37:g.70698336G>T	ENSP00000341171:p.Cys496*					FLJ00418_ENST00000597002.1_5'UTR	p.C496*	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1762	-			496					A6NJI7|Q9BUA8	Nonsense_Mutation	SNP	ENST00000338779.6	37	c.1488C>A	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	38	7.245377	0.98161	.	.	ENSG00000132613	ENST00000338779	.	.	.	4.89	4.89	0.63831	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-33.5027	11.2412	0.48970	0.0861:0.0:0.9139:0.0	.	.	.	.	X	496	.	ENSP00000341171:C496X	C	-	3	2	MTSS1L	69255837	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.019000	0.49635	2.245000	0.73994	0.462000	0.41574	TGC		0.672	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		20	76	1	0	9.7654e-05	1	9.93505e-05	20	76					T	70698336	G	T	70698336	4	4	79	1	0	0	0	0	0	1	0	0	10004	963	34	3	759	3	MTSS1L	16	70698336	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92629	70698336	19656417	16451	26768											
MTSS1L	92154	broad.mit.edu	37	chr16	70714875	70714875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacctcacctcagctgGgaatgcagcttcgtggcctt	12	14	2	0	rs561940484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	41	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(121-123)tcC>tcT		metastasis suppressor 1-like							55	58	57					16																	70714875		2195	4297	6492	SO:0001819	synonymous_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70714875G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.123C>T	16.37:g.70714875G>A							p.S41S	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			2	397	-			41			IMD.		A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	37	c.123C>T	CCDS32476.1																																																																																				0.647	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		17	53	0	0	0	1	0	17	53					A	70714875	G	A	70714875	2	1	79	1	0	0	0	0	0	0	0	1	10004	1219	43	2		2	MTSS1L	16	70714875	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16539	70714875	19639878	16452	26769											
VAC14	55697	broad.mit.edu	37	chr16	70778369	70778369	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgccaggggtgggcacctgGagctctgagtggctggcctg	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	495					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCACCTGGAGCTCTGAGT	0.642																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1483-1485)ctC>ctA		Vac14 homolog (S. cerevisiae)							39	42	41					16																	70778369		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70778369G>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1485C>A	16.37:g.70778369G>T							p.L495L	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			13	1745	-		Ovarian(137;0.0699)	495					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.1485C>A	CCDS10896.1																																																																																				0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		66	295	1	0	1.356e-25	1	1.55723e-25	66	295					T	70778369	G	T	70778369	2	4	79	1	0	0	0	0	0	0	0	1	17165	1161	41	3		3	VAC14	16	70778369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63494	70778369	19576384	16453	26770											
VAC14	55697	broad.mit.edu	37	chr16	70815788	70815788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacttttcttgcggtcatcGtaggccaagcagggcaagac	11	10	2	1	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	310					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCGGTCATCGTAGGCCAAGC	0.572																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(928-930)taC>taT		Vac14 homolog (S. cerevisiae)		G		0,4396		0,0,2198	55	53	54		930	-3.4	0.9	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	VAC14	NM_018052.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		310/783	70815788	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815788G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.930C>T	16.37:g.70815788G>A							p.Y310Y	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1190	-		Ovarian(137;0.0699)	310					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.930C>T	CCDS10896.1																																																																																				0.572	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		29	254	0	0	0	1	0	29	254					A	70815788	G	A	70815788	2	1	79	1	0	0	0	0	0	0	0	1	17165	1140	40	1		1	VAC14	16	70815788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37419	70815788	19538965	16454	26771											
VAC14	55697	broad.mit.edu	37	chr16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaggcggtctaggaGctcagatccgcttttcacat	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	156					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGGTCTAGGAGCTCAGATCCG	0.498																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(466-468)Ctc>Ttc		Vac14 homolog (S. cerevisiae)							118	126	123					16																	70818699		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818699G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.466C>T	16.37:g.70818699G>A	ENSP00000261776:p.Leu156Phe						p.L156F	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			4	726	-		Ovarian(137;0.0699)	156					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.466C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540889	0.85917	.	.	ENSG00000103043	ENST00000261776	D	0.97665	-4.48	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97880	1.0291	10	0.59425	D	0.04	-28.1775	12.4816	0.55847	0.0762:0.0:0.9237:0.0	.	156	Q08AM6	VAC14_HUMAN	F	156	ENSP00000261776:L156F	ENSP00000261776:L156F	L	-	1	0	VAC14	69376200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.850000	0.69473	2.531000	0.85337	0.563000	0.77884	CTC		0.498	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		142	656	0	0	0	1	0	142	656					A	70818699	G	A	70818699	3	1	79	1	0	0	0	0	1	0	0	0	17165	971	34	2	1946	2	VAC14	16	70818699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2911	70818699	19536054	16455	26772											
HYDIN	54768	broad.mit.edu	37	chr16	70841708	70841708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaggtcaccatgtgAtagaagacattcttgaaggg	13	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5047					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCACCATGTGATAGAAGACAT	0.532																																						ENST00000393567.2																			0				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						c.(15139-15141)taT>taC		HYDIN, axonemal central pair apparatus protein							122	124	123					16																	70841708		2036	4203	6239	SO:0001819	synonymous_variant	54768							g.chr16:70841708A>G	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.15141T>C	16.37:g.70841708A>G							p.Y5047Y	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15291	-		Ovarian(137;0.0654)	5047					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15141T>C	CCDS59269.1																																																																																				0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			16	359	0	0	0	1	0	16	359					G	70841708	A	G	70841708	2	3	79	1	0	0	0	0	0	0	0	1	7497	340	12	4		4	HYDIN	16	70841708	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23009	70841708	19513045	16456	26773											
HYDIN	54768	broad.mit.edu	37	chr16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagctcaagccttcaAagtctggtgtctggatgtct	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2576					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAGCCTTCAAAGTCTGGTGT	0.592																																						ENST00000393567.2																			0				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						c.(7726-7728)tTt>tCt		HYDIN, axonemal central pair apparatus protein							41	43	42					16																	70954552		2006	4177	6183	SO:0001583	missense	54768							g.chr16:70954552A>G	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.7727T>C	16.37:g.70954552A>G	ENSP00000377197:p.Phe2576Ser						p.F2576S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			46	7877	-		Ovarian(137;0.0654)	2576					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.7727T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	8.662	0.900781	0.17686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.89	-4.2	0.03823	.	1.438640	0.05358	N	0.533179	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48293	-0.9048	10	0.08599	T	0.76	.	10.6572	0.45682	0.2027:0.1429:0.6544:0.0	.	2575	F8WD23	.	S	2576;2575	ENSP00000377197:F2576S	ENSP00000313052:F2575S	F	-	2	0	HYDIN	69512053	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.702000	0.25631	-0.698000	0.05085	-0.315000	0.08773	TTT		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			23	110	0	0	0	1	0	23	110					G	70954552	A	G	70954552	3	3	79	1	0	0	0	0	1	0	0	0	7497	14	1	4	7802	4	HYDIN	16	70954552	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112844	70954552	19400201	16457	26774											
FTSJD1	55783	broad.mit.edu	37	chr16	71318457	71318457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctttggctactttatctTtccatgaaagggcttctagc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71318457T>G	ENST00000338099.5	-	3	1703	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	CMTR2_ENST00000434935.2_Missense_Mutation_p.K456T			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	456					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TACTTTATCTTTCCATGAAAG	0.353																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1366-1368)aAa>aCa									58	61	60					16																	71318457		2195	4298	6493	SO:0001583	missense	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318457T>G	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1367A>C	16.37:g.71318457T>G	ENSP00000337512:p.Lys456Thr					FTSJD1_ENST00000434935.2_Missense_Mutation_p.K456T	p.K456T			Q8IYT2	FTSJ1_HUMAN			3	1703	-			456					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1367A>C	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	6.637	0.485954	0.12641	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15487	2.42;2.42	5.95	2.28	0.28536	.	0.357917	0.31685	N	0.007233	T	0.11239	0.0274	L	0.38531	1.155	0.35059	D	0.761367	B	0.06786	0.001	B	0.09377	0.004	T	0.18053	-1.0349	10	0.23302	T	0.38	6.4172	6.6036	0.22714	0.0:0.137:0.3614:0.5016	.	456	Q8IYT2	FTSJ1_HUMAN	T	456	ENSP00000337512:K456T;ENSP00000411148:K456T	ENSP00000337512:K456T	K	-	2	0	FTSJD1	69875958	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.467000	0.35321	0.492000	0.27815	-0.537000	0.04273	AAA		0.353	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		72	314	0	0	0	1	0	72	314					G	71318457	T	G	71318457	3	3	79	1	0	0	0	0	1	0	0	0	6117	1841	64	4	949	4	FTSJD1	16	71318457	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	363905	71318457	19036296	16458	26775											
FTSJD1	55783	broad.mit.edu	37	chr16	71319453	71319453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggaataagtggaaagCtgcacaaaatctcatggaac	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71319453C>A	ENST00000338099.5	-	3	707	c.371G>T	c.(370-372)aGc>aTc	p.S124I	CMTR2_ENST00000434935.2_Missense_Mutation_p.S124I			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	124	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AAGTGGAAAGCTGCACAAAAT	0.388																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)aGc>aTc									59	58	58					16																	71319453		2198	4300	6498	SO:0001583	missense	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319453C>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.371G>T	16.37:g.71319453C>A	ENSP00000337512:p.Ser124Ile					FTSJD1_ENST00000434935.2_Missense_Mutation_p.S124I	p.S124I			Q8IYT2	FTSJ1_HUMAN			3	707	-			124					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.371G>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573462	0.28092	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.30714	1.52;1.52	5.56	4.61	0.57282	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.258640	0.43416	D	0.000561	T	0.38799	0.1054	L	0.43152	1.355	0.40103	D	0.976396	D	0.55172	0.97	P	0.57846	0.828	T	0.14896	-1.0456	10	0.36615	T	0.2	-37.2314	9.7217	0.40306	0.0:0.8437:0.0:0.1563	.	124	Q8IYT2	FTSJ1_HUMAN	I	124	ENSP00000337512:S124I;ENSP00000411148:S124I	ENSP00000337512:S124I	S	-	2	0	FTSJD1	69876954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.395000	0.34520	1.342000	0.45619	0.561000	0.74099	AGC		0.388	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		80	295	1	0	5.04879e-28	1	5.86081e-28	80	295					A	71319453	C	A	71319453	3	1	79	1	0	0	0	0	1	0	0	0	6117	797	28	3	1945	3	FTSJD1	16	71319453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996	71319453	19035300	16459	26776											
ZNF19	7567	broad.mit.edu	37	chr16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccatgtgacatcatcCcatctctttcttcagaaatt	5	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000288177.5	-	6	593	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	113					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGACATCATCCCATCTCTTTC	0.428																																						ENST00000288177.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(337-339)gGg>gTg		zinc finger protein 19							113	101	105					16																	71510112		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71510112C>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.338G>T	16.37:g.71510112C>A	ENSP00000288177:p.Gly113Val					AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V	p.G113V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	593	-		Ovarian(137;0.00965)	113					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.338G>T	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	5.104	0.204858	0.09704	.	.	ENSG00000157429	ENST00000288177	T	0.05258	3.47	3.0	-2.25	0.06888	.	2.866660	0.01468	N	0.016151	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.27785	T	0.31	.	6.4821	0.22069	0.3951:0.5005:0.1045:0.0	.	113	P17023	ZNF19_HUMAN	V	113	ENSP00000288177:G113V	ENSP00000288177:G113V	G	-	2	0	ZNF19	70067613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.648000	0.00859	-0.534000	0.06315	-0.397000	0.06425	GGG		0.428	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		41	234	1	0	8.69298e-16	1	9.51602e-16	41	234					A	71510112	C	A	71510112	3	1	79	1	0	0	0	0	1	0	0	0	17808	623	22	3	1042	3	ZNF19	16	71510112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190659	71510112	18844641	16460	26777											
ZNF19	7567	broad.mit.edu	37	chr16	71515996	71515996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctcacctggtattgagCtttcagaggcatggctgcca	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	ENST00000288177.5	-	3	277	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	8					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGGTATTGAGCTTTCAGAGGC	0.507																																						ENST00000561908.1																			0											c.(22-24)Gct>Tct									65	52	57					16																	71515996		2198	4300	6498	SO:0001583	missense	0							g.chr16:71515996C>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.22G>T	16.37:g.71515996C>A	ENSP00000288177:p.Ala8Ser					ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A8S	p.A8S							3	524	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.22G>T	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	7.008	0.556229	0.13436	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	2.62	0.54	0.17163	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.33668	1.02	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40040	-0.9584	9	0.39692	T	0.17	.	5.5727	0.17206	0.1911:0.6832:0.0:0.1257	.	8	P17023	ZNF19_HUMAN	S	8	ENSP00000288177:A8S	ENSP00000288177:A8S	A	-	1	0	ZNF19	70073497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.308000	0.08156	-0.093000	0.12396	-1.579000	0.00862	GCT		0.507	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		28	100	1	0	5.45727e-16	1	5.98072e-16	28	100					A	71515996	C	A	71515996	3	1	79	1	0	0	0	0	1	0	0	0	17808	797	28	3	1370	3	ZNF19	16	71515996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5884	71515996	18838757	16461	26778											
TAT	6898	broad.mit.edu	37	chr16	71604256	71604256	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccctggacaatggtacaGggtcccaaaatgcgctgact	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604256G>T	ENST00000355962.4	-	9	1090	c.957C>A	c.(955-957)ccC>ccA	p.P319P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	319					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CAATGGTACAGGGTCCCAAAA	0.493																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(955-957)ccC>ccA		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						70	67	68					16																	71604256		2198	4300	6498	SO:0001819	synonymous_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71604256G>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.957C>A	16.37:g.71604256G>T						RP11-432I5.1_ENST00000561529.1_RNA	p.P319P	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	9	1090	-		Ovarian(137;0.125)	319					B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	c.957C>A	CCDS10903.1																																																																																				0.493	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			7	295	1	0	2.7689e-08	1	2.89045e-08	7	295					T	71604256	G	T	71604256	2	4	79	1	0	0	0	0	0	0	0	1	15642	987	35	3		3	TAT	16	71604256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88260	71604256	18750497	16462	26779											
TAT	6898	broad.mit.edu	37	chr16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcaccatattatcacctCattgccaaaaatgtctcttc	2	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	304					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATTATCACCTCATTGCCAAAA	0.473																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(910-912)Gag>Aag		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						64	61	62					16																	71604584		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71604584C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.910G>A	16.37:g.71604584C>T	ENSP00000348234:p.Glu304Lys					RP11-432I5.1_ENST00000561529.1_RNA	p.E304K	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	8	1043	-		Ovarian(137;0.125)	304					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.910G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367297	0.41902	.	.	ENSG00000198650	ENST00000355962	D	0.91124	-2.79	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.163302	0.56097	D	0.000033	D	0.86973	0.6062	L	0.31845	0.965	0.54753	D	0.999987	B	0.27264	0.173	B	0.27170	0.077	T	0.83192	-0.0083	10	0.35671	T	0.21	-22.7911	19.2736	0.94021	0.0:1.0:0.0:0.0	.	304	P17735	ATTY_HUMAN	K	304	ENSP00000348234:E304K	ENSP00000348234:E304K	E	-	1	0	TAT	70162085	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.518000	0.60510	2.546000	0.85860	0.563000	0.77884	GAG		0.473	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			9	302	0	0	0	1	0	9	302					T	71604584	C	T	71604584	3	4	79	1	0	0	0	0	1	0	0	0	15642	835	29	2	474	2	TAT	16	71604584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328	71604584	18750169	16463	26780											
MARVELD3	91862	broad.mit.edu	37	chr16	71674597	71674597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttgtcagggaagtggctCctcacggaggccgccttcag	14	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	303	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(898-900)ctC>ctT		MARVEL domain containing 3							54	51	52					16																	71674597		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71674597C>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.900C>T	16.37:g.71674597C>T						PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	p.L300L	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	943	+		Ovarian(137;0.125)	303			MARVEL.		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000299952.4	37	c.900C>T	CCDS32478.1																																																																																				0.567	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		18	261	0	0	0	1	0	18	261					T	71674597	C	T	71674597	2	4	79	1	0	0	0	0	0	0	0	1	9360	842	30	2		2	MARVELD3	16	71674597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	71674597	18680156	16464	26781											
PHLPP2	23035	broad.mit.edu	37	chr16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtcctgacagccatagCtctgcgctaatgtgcacagc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000568954.1	-	19	3434	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2854-2856)aGc>aAc		PH domain and leucine rich repeat protein phosphatase 2							226	209	215					16																	71683709		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683709C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3056G>A	16.37:g.71683709C>T	ENSP00000457991:p.Ser1019Asn					PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S1019N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N	p.S952N			Q6ZVD8	PHLP2_HUMAN			17	3588	-			1019			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2855G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	PHLPP2	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC		0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		191	757	0	0	0	1	0	191	757					T	71683709	C	T	71683709	3	4	79	1	0	0	0	0	1	0	0	0	11897	797	28	2	919	2	PHLPP2	16	71683709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9112	71683709	18671044	16465	26782											
PHLPP2	23035	broad.mit.edu	37	chr16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcggggagcggaacacacctCtgtgatgatggctttttggt	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000568954.1	-	18	3193	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E872K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	939	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2614-2616)Gag>Aag		PH domain and leucine rich repeat protein phosphatase 2							117	88	98					16																	71686695		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71686695C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2815G>A	16.37:g.71686695C>T	ENSP00000457991:p.Glu939Lys					PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K	p.E872K			Q6ZVD8	PHLP2_HUMAN			16	3347	-			939			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2614G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513646	0.96402	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.02417	-1.1162	10	0.44086	T	0.13	-18.1224	18.1921	0.89810	0.0:1.0:0.0:0.0	.	872;939	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	149;746;939;939;872	ENSP00000445781:E149K;ENSP00000353610:E939K;ENSP00000348611:E939K;ENSP00000377159:E872K	ENSP00000299971:E746K	E	-	1	0	PHLPP2	70244196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG		0.557	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		41	278	0	0	0	1	0	41	278					T	71686695	C	T	71686695	3	4	79	1	0	0	0	0	1	0	0	0	11897	922	32	2	1164	2	PHLPP2	16	71686695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2986	71686695	18668058	16466	26783											
PHLPP2	23035	broad.mit.edu	37	chr16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttctgggaaaatgcTgatgttgttggagtgtgcaa	13	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000568954.1	-	14	2488	c.2110A>G	c.(2110-2112)Agc>Ggc	p.S704G	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S637G|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	704					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1909-1911)Agc>Ggc		PH domain and leucine rich repeat protein phosphatase 2							277	244	255					16																	71692594		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71692594T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2110A>G	16.37:g.71692594T>C	ENSP00000457991:p.Ser704Gly					PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|RP11-432I5.6_ENST00000567077.1_RNA	p.S637G			Q6ZVD8	PHLP2_HUMAN			12	2642	-			704					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1909A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972492	0.74246	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.26373	1.74;2.11;2.08	5.82	5.82	0.92795	.	0.040777	0.85682	D	0.000000	T	0.30823	0.0777	N	0.19112	0.55	0.51012	D	0.999909	D;P	0.56968	0.978;0.919	P;B	0.56343	0.796;0.35	T	0.04593	-1.0940	10	0.44086	T	0.13	-18.2593	15.3644	0.74510	0.0:0.0:0.0:1.0	.	637;704	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	511;704;704;637	ENSP00000353610:S704G;ENSP00000348611:S704G;ENSP00000377159:S637G	ENSP00000299971:S511G	S	-	1	0	PHLPP2	70250095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.157000	0.64911	2.228000	0.72767	0.533000	0.62120	AGC		0.458	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		118	463	0	0	0	1	0	118	463					C	71692594	T	C	71692594	3	2	79	1	0	0	0	0	1	0	0	0	11897	1580	55	4	1885	4	PHLPP2	16	71692594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5899	71692594	18662159	16467	26784											
PHLPP2	23035	broad.mit.edu	37	chr16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactttagcagattgccaAtttgacttggtaggtcatga	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000568954.1	-	7	1400	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	341					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1021-1023)aTt>aCt		PH domain and leucine rich repeat protein phosphatase 2							90	87	88					16																	71713307		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71713307A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1022T>C	16.37:g.71713307A>G	ENSP00000457991:p.Ile341Thr					PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T	p.I341T			Q6ZVD8	PHLP2_HUMAN			6	1755	-			341					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1022T>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667761	0.67814	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26067	1.76;1.76;1.76	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.52933	0.1765	M	0.80847	2.515	0.45528	D	0.998486	P;D	0.69078	0.949;0.997	P;D	0.65874	0.675;0.939	T	0.58132	-0.7690	10	0.87932	D	0	-20.5139	15.7393	0.77876	1.0:0.0:0.0:0.0	.	341;341	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	148;341;341;341;341	ENSP00000353610:I341T;ENSP00000348611:I341T;ENSP00000377159:I341T	ENSP00000299971:I148T	I	-	2	0	PHLPP2	70270808	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.079000	0.94032	2.308000	0.77769	0.533000	0.62120	ATT		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		65	273	0	0	0	1	0	65	273					G	71713307	A	G	71713307	3	3	79	1	0	0	0	0	1	0	0	0	11897	101	4	4	3001	4	PHLPP2	16	71713307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20713	71713307	18641446	16468	26785											
KIAA0174	9798	broad.mit.edu	37	chr16	71950546	71950546	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccttatccagtctatgaaGtaagatattttgattcagag	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71950546G>T	ENST00000378799.6	+	3	625		c.e3+1		IST1_ENST00000544564.1_Splice_Site|IST1_ENST00000606369.1_Intron|IST1_ENST00000541571.2_Splice_Site|IST1_ENST00000535424.1_Splice_Site|IST1_ENST00000378798.5_Splice_Site|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538565.1_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000329908.8_Splice_Site			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AGTCTATGAAGTAAGATATTT	0.443																																						ENST00000378799.6																			0											c.e3+1		increased sodium tolerance 1 homolog (yeast)							71	65	67					16																	71950546		2198	4300	6498	SO:0001630	splice_region_variant	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71950546G>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.269+1G>T	16.37:g.71950546G>T						IST1_ENST00000541571.2_Splice_Site|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Splice_Site|IST1_ENST00000329908.8_Splice_Site|IST1_ENST00000538850.1_Intron|IST1_ENST00000544564.1_Splice_Site|IST1_ENST00000606369.1_Intron|RP11-498D10.4_ENST00000568581.1_Splice_Site|IST1_ENST00000378798.5_Splice_Site		NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			3	625	+								A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Splice_Site	SNP	ENST00000378799.6	37		CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258884	0.80246	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7108	0.91656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0174	70508047	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	.		0.443	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	Intron	52	218	1	0	1.38658e-30	1	1.62744e-30	52	218					T	71950546	G	T	71950546	5	4	79	1	0	0	0	0	0	0	1	0	8188	1043	36	3	276	3	KIAA0174	16	71950546	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237239	71950546	18404207	16469	26786											
DHODH	1723	broad.mit.edu	37	chr16	72055168	72055168	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaacactgccgggctgcgGagccttcagggaaaggccga	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000219240.4	+	5	684	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000573922.1_Intron|DHODH_ENST00000572887.1_Silent_p.R221R	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	221					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CCGGGCTGCGGAGCCTTCAGG	0.697																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(661-663)cgG>cgA		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						20	28	26					16																	72055168		2046	4177	6223	SO:0001819	synonymous_variant	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72055168G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.663G>A	16.37:g.72055168G>A						DHODH_ENST00000219240.4_Silent_p.R221R|DHODH_ENST00000573922.1_Intron	p.R221R			Q02127	PYRD_HUMAN			5	840	+		Ovarian(137;0.125)	221					A8K8C8|Q6P176	Silent	SNP	ENST00000219240.4	37	c.663G>A	CCDS42192.1																																																																																				0.697	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		14	96	0	0	0	1	0	14	96					A	72055168	G	A	72055168	2	1	79	1	0	0	0	0	0	0	0	1	4500	1161	41	2		2	DHODH	16	72055168	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104622	72055168	18299585	16470	26787											
HPR	3250	broad.mit.edu	37	chr16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctttccctggcaggCtaagatggtttcccaccata	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A156V|HPR_ENST00000356967.5_Missense_Mutation_p.A119V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	119	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(355-357)gCt>gTt		haptoglobin-related protein							56	39	45					16																	72110289		1994	4165	6159	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110289C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.356C>T	16.37:g.72110289C>T	ENSP00000441828:p.Ala119Val					HPR_ENST00000356967.5_Missense_Mutation_p.A119V|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A156V	p.A119V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	388	+		Ovarian(137;0.125)	119			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.356C>T	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	9.882	1.201811	0.22121	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91577	-2.87;-2.87;-2.87	2.46	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066639	0.56097	D	0.000022	D	0.87184	0.6114	N	0.19112	0.55	0.40059	D	0.97587	D	0.71674	0.998	D	0.70227	0.968	T	0.82598	-0.0378	10	0.26408	T	0.33	.	4.0998	0.10009	0.0:0.4798:0.3603:0.1599	.	119	P00739	HPTR_HUMAN	V	119;119;156	ENSP00000349451:A119V;ENSP00000441828:A119V;ENSP00000228226:A156V	ENSP00000228226:A156V	A	+	2	0	HP	70667790	0.931000	0.31567	0.997000	0.53966	0.236000	0.25371	1.823000	0.39062	1.381000	0.46364	0.194000	0.17425	GCT		0.532	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		59	201	0	0	0	1	0	59	201					T	72110289	C	T	72110289	3	4	79	1	0	0	0	0	1	0	0	0	7367	797	28	2	374	2	HPR	16	72110289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55121	72110289	18244464	16471	26788											
DHX38	9785	broad.mit.edu	37	chr16	72138495	72138495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttccacatccctggccgTaccttccctgttgacatcct	5	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	707					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2119-2121)cgT>cgC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							242	186	205					16																	72138495		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72138495T>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2121T>C	16.37:g.72138495T>C						DHX38_ENST00000536867.1_Intron	p.R707R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			15	2630	+		Ovarian(137;0.125)	707					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2121T>C	CCDS10907.1																																																																																				0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		135	540	0	0	0	1	0	135	540					C	72138495	T	C	72138495	2	2	79	1	0	0	0	0	0	0	0	1	4527	1625	57	4		4	DHX38	16	72138495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28206	72138495	18216258	16472	26789											
DHX38	9785	broad.mit.edu	37	chr16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcatggacccgcccccgGaggacaacatgctcaactct	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	917					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2749-2751)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 38							44	44	44					16																	72141387		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141387G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2749G>A	16.37:g.72141387G>A	ENSP00000268482:p.Glu917Lys					DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	p.E917K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			20	3258	+		Ovarian(137;0.125)	917					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2749G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02525	4.26;4.26	5.43	5.43	0.79202	.	0.063541	0.64402	D	0.000007	T	0.03520	0.0101	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.21688	0.049;0.059	B;B	0.17098	0.016;0.017	T	0.56312	-0.8000	10	0.34782	T	0.22	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	229;917	B4DVG8;Q92620	.;PRP16_HUMAN	K	917;229	ENSP00000268482:E917K;ENSP00000437898:E229K	ENSP00000268482:E917K	E	+	1	0	DHX38	70698888	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.590000	0.61013	2.825000	0.97269	0.655000	0.94253	GAG		0.632	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		45	232	0	0	0	1	0	45	232					A	72141387	G	A	72141387	3	1	79	1	0	0	0	0	1	0	0	0	4527	1175	41	2	2823	2	DHX38	16	72141387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2892	72141387	18213366	16473	26790											
ZFHX3	463	broad.mit.edu	37	chr16	72821372	72821372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggagggggcggcggcCgacgggggaggggggctgtc	27	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	ZFHX3_ENST00000397992.5_Silent_p.S2687S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					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)			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)				GGGCGGCGGCCGACGGGGGAG	0.652																																						ENST00000268489.5																			0				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						c.(10801-10803)tcG>tcA		zinc finger homeobox 3							42	41	41					16																	72821372		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.chr16:72821372C>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.10803G>A	16.37:g.72821372C>T						ZFHX3_ENST00000397992.5_Silent_p.S2687S	p.S3601S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11475	-		Ovarian(137;0.13)	3601					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10803G>A	CCDS10908.1																																																																																				0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		58	285	0	0	0	1	0	58	285					T	72821372	C	T	72821372	2	4	79	1	0	0	0	0	0	0	0	1	17687	639	23	1		1	ZFHX3	16	72821372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679985	72821372	17533381	16474	26791											
ZFHX3	463	broad.mit.edu	37	chr16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacgggggaggggggctgtCgtttgagtgagcggcagact	21	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3595					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)			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)				GGGGGGCTGTCGTTTGAGTGA	0.642																																						ENST00000268489.5																			0				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						c.(10783-10785)Gac>Aac		zinc finger homeobox 3							147	120	129					16																	72821392		2198	4300	6498	SO:0001583	missense	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.chr16:72821392C>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.10783G>A	16.37:g.72821392C>T	ENSP00000268489:p.Asp3595Asn					ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N	p.D3595N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11455	-		Ovarian(137;0.13)	3595					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10783G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173645	0.38413	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29142	1.58;1.58	3.95	3.95	0.45737	.	0.000000	0.49305	D	0.000151	T	0.10035	0.0246	N	0.01048	-1.04	0.44092	D	0.996856	B	0.15473	0.013	B	0.04013	0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3595	Q15911	ZFHX3_HUMAN	N	3595;2681	ENSP00000268489:D3595N;ENSP00000438926:D2681N	ENSP00000268489:D3595N	D	-	1	0	ZFHX3	71378893	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	1.914000	0.55421	0.557000	0.71058	GAC		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		165	415	0	0	0	1	0	165	415					T	72821392	C	T	72821392	3	4	79	1	0	0	0	0	1	0	0	0	17687	884	31	1	332	1	ZFHX3	16	72821392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	72821392	17533361	16475	26792											
ZFHX3	463	broad.mit.edu	37	chr16	72821414	72821414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtgagcggcagactgCgaggtagatgcggtgctagg	18	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					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)			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)				CGGCAGACTGCGAGGTAGATG	0.617																																						ENST00000268489.5																			0				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						c.(10759-10761)tcG>tcA		zinc finger homeobox 3							234	184	201					16																	72821414		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.chr16:72821414C>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.10761G>A	16.37:g.72821414C>T						ZFHX3_ENST00000397992.5_Silent_p.S2673S	p.S3587S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11433	-		Ovarian(137;0.13)	3587					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10761G>A	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		37	799	0	0	0	1	0	37	799					T	72821414	C	T	72821414	2	4	79	1	0	0	0	0	0	0	0	1	17687	755	27	1		1	ZFHX3	16	72821414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	72821414	17533339	16476	26793											
ZFHX3	463	broad.mit.edu	37	chr16	72822080	72822080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagactctgctggtattgCtggtactgctgcagtaggga	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_ENST00000397992.5_Silent_p.Q2451Q|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3365					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)			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)				GCTGGTATTGCTGGTACTGCT	0.592																																						ENST00000268489.5																			0				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						c.(10093-10095)caG>caA		zinc finger homeobox 3							31	32	32					16																	72822080		2196	4297	6493	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.chr16:72822080C>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.10095G>A	16.37:g.72822080C>T						ZFHX3_ENST00000397992.5_Silent_p.Q2451Q	p.Q3365Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10767	-		Ovarian(137;0.13)	3365					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10095G>A	CCDS10908.1																																																																																				0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		57	280	0	0	0	1	0	57	280					T	72822080	C	T	72822080	2	4	79	1	0	0	0	0	0	0	0	1	17687	796	28	2		2	ZFHX3	16	72822080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666	72822080	17532673	16477	26794											
ZFHX3	463	broad.mit.edu	37	chr16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggaaggaacagttgtgCtgggcagacccatcaagttc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3156					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)			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)				AACAGTTGTGCTGGGCAGACC	0.562																																						ENST00000268489.5																			0				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						c.(9466-9468)aGc>aAc		zinc finger homeobox 3							102	105	104					16																	72822708		2198	4300	6498	SO:0001583	missense	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.chr16:72822708C>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.9467G>A	16.37:g.72822708C>T	ENSP00000268489:p.Ser3156Asn					ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N	p.S3156N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10139	-		Ovarian(137;0.13)	3156					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9467G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259301	0.39995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.89	5.89	0.94794	.	0.209166	0.32753	N	0.005690	T	0.64227	0.2579	N	0.19112	0.55	0.52099	D	0.999941	B	0.27559	0.181	B	0.21360	0.034	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	3156	Q15911	ZFHX3_HUMAN	N	3156;2242	ENSP00000268489:S3156N;ENSP00000438926:S2242N	ENSP00000268489:S3156N	S	-	2	0	ZFHX3	71380209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.277000	0.51654	2.788000	0.95919	0.557000	0.71058	AGC		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		149	807	0	0	0	1	0	149	807					T	72822708	C	T	72822708	3	4	79	1	0	0	0	0	1	0	0	0	17687	797	28	2	1648	2	ZFHX3	16	72822708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	72822708	17532045	16478	26795											
ZFHX3	463	broad.mit.edu	37	chr16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcaaagtttagattaaCtgaggacatggaggggcttt	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2821					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)			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)				TTTAGATTAACTGAGGACATG	0.458																																						ENST00000268489.5																			0				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						c.(8461-8463)Gtt>Ttt		zinc finger homeobox 3							147	131	136					16																	72828120		2198	4300	6498	SO:0001583	missense	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.chr16:72828120C>A	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.8461G>T	16.37:g.72828120C>A	ENSP00000268489:p.Val2821Phe					ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	p.V2821F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9133	-		Ovarian(137;0.13)	2821					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8461G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363561	0.24684	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.83	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000396	D	0.83004	0.5160	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.82592	-0.0381	10	0.59425	D	0.04	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2821	Q15911	ZFHX3_HUMAN	F	2821;1907	ENSP00000268489:V2821F;ENSP00000438926:V1907F	ENSP00000268489:V2821F	V	-	1	0	ZFHX3	71385621	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.849000	0.62882	2.823000	0.97156	0.650000	0.86243	GTT		0.458	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		35	524	1	0	1.36161e-19	1	1.52027e-19	35	524					A	72828120	C	A	72828120	3	1	79	1	0	0	0	0	1	0	0	0	17687	565	20	3	2658	3	ZFHX3	16	72828120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	72828120	17526633	16479	26796											
ZFHX3	463	broad.mit.edu	37	chr16	72829446	72829446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtactgcaggatgagcTggtaggcgtcaggatttcca	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829446T>G	ENST00000268489.5	-	9	7807	c.7135A>C	c.(7135-7137)Agc>Cgc	p.S2379R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2379					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)			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)				CAGGATGAGCTGGTAGGCGTC	0.547																																						ENST00000268489.5																			0				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						c.(7135-7137)Agc>Cgc		zinc finger homeobox 3							114	109	111					16																	72829446		2198	4300	6498	SO:0001583	missense	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.chr16:72829446T>G	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.7135A>C	16.37:g.72829446T>G	ENSP00000268489:p.Ser2379Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	p.S2379R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7807	-		Ovarian(137;0.13)	2379					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7135A>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743710	0.49151	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.81	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000013	T	0.57989	0.2091	N	0.14661	0.345	0.51482	D	0.999925	B	0.14438	0.01	B	0.08055	0.003	T	0.54248	-0.8322	10	0.16896	T	0.51	.	15.5119	0.75789	0.0:0.0:0.0:1.0	.	2379	Q15911	ZFHX3_HUMAN	R	2379;1465	ENSP00000268489:S2379R;ENSP00000438926:S1465R	ENSP00000268489:S2379R	S	-	1	0	ZFHX3	71386947	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.758000	0.68776	2.063000	0.61619	0.459000	0.35465	AGC		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	615	0	0	0	1	0	10	615					G	72829446	T	G	72829446	3	3	79	1	0	0	0	0	1	0	0	0	17687	1580	55	4	3984	4	ZFHX3	16	72829446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1326	72829446	17525307	16480	26797											
ZFHX3	463	broad.mit.edu	37	chr16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggccttctgtcgggcattCtgaaaccacaccactatcac	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2291					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)			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)				GTCGGGCATTCTGAAACCACA	0.453																																						ENST00000268489.5																			0				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						c.(6871-6873)caG>caT		zinc finger homeobox 3							145	148	147					16																	72829708		2198	4300	6498	SO:0001583	missense	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.chr16:72829708C>A	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.6873G>T	16.37:g.72829708C>A	ENSP00000268489:p.Gln2291His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	p.Q2291H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7545	-		Ovarian(137;0.13)	2291					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6873G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246188	0.39697	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97688	-4.49;-4.49	5.65	0.87	0.19102	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47852	D	0.000215	D	0.99077	0.9683	H	0.98577	4.27	0.53688	D	0.99997	D	0.69078	0.997	D	0.85130	0.997	D	0.98597	1.0657	10	0.87932	D	0	.	10.672	0.45764	0.0:0.7574:0.0:0.2426	.	2291	Q15911	ZFHX3_HUMAN	H	2291;1377	ENSP00000268489:Q2291H;ENSP00000438926:Q1377H	ENSP00000268489:Q2291H	Q	-	3	2	ZFHX3	71387209	0.848000	0.29623	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.189000	0.20188	0.561000	0.74099	CAG		0.453	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		181	935	1	0	3.52435e-65	1	4.45622e-65	181	935					A	72829708	C	A	72829708	3	1	79	1	0	0	0	0	1	0	0	0	17687	912	32	3	4246	3	ZFHX3	16	72829708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	72829708	17525045	16481	26798											
ZFHX3	463	broad.mit.edu	37	chr16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcgggggtagctgagCcggcaaggtctgcagcggca	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2112					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)			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)				GGTAGCTGAGCCGGCAAGGTC	0.642																																						ENST00000268489.5																			0				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						c.(6334-6336)Gct>Tct		zinc finger homeobox 3							48	45	46					16																	72830247		2198	4300	6498	SO:0001583	missense	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.chr16:72830247C>A	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.6334G>T	16.37:g.72830247C>A	ENSP00000268489:p.Ala2112Ser					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	p.A2112S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7006	-		Ovarian(137;0.13)	2112					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6334G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459948	0.12342	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73469	-0.75;-0.74	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000135	T	0.59783	0.2219	N	0.12182	0.205	0.43756	D	0.996261	B	0.14438	0.01	B	0.13407	0.009	T	0.54214	-0.8327	10	0.20046	T	0.44	.	19.1839	0.93635	0.0:1.0:0.0:0.0	.	2112	Q15911	ZFHX3_HUMAN	S	2112;1198	ENSP00000268489:A2112S;ENSP00000438926:A1198S	ENSP00000268489:A2112S	A	-	1	0	ZFHX3	71387748	0.993000	0.37304	0.314000	0.25224	0.145000	0.21501	3.019000	0.49635	2.523000	0.85059	0.655000	0.94253	GCT		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		81	323	1	0	4.8811e-34	1	5.79764e-34	81	323					A	72830247	C	A	72830247	3	1	79	1	0	0	0	0	1	0	0	0	17687	739	26	3	4785	3	ZFHX3	16	72830247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	72830247	17524506	16482	26799											
ZFHX3	463	broad.mit.edu	37	chr16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaggtgctgctgctgCtgtagttgcagcagggtctc	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1791	Poly-Gln.				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)			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)				GCTGCTGCTGCTGTAGTTGCA	0.572																																						ENST00000268489.5																			0				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						c.(5371-5373)caG>caT		zinc finger homeobox 3							101	102	101					16																	72831208		2198	4300	6498	SO:0001583	missense	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.chr16:72831208C>A	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.5373G>T	16.37:g.72831208C>A	ENSP00000268489:p.Gln1791His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	p.Q1791H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6045	-		Ovarian(137;0.13)	1791			Poly-Gln.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5373G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492633	0.26774	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.86164	-2.08;-1.95	6.17	3.21	0.36854	.	0.000000	0.47455	D	0.000230	D	0.89760	0.6808	L	0.49126	1.545	0.54753	D	0.999988	D	0.71674	0.998	D	0.79784	0.993	D	0.88453	0.3050	10	0.52906	T	0.07	.	9.4691	0.38831	0.0:0.6739:0.0:0.3261	.	1791	Q15911	ZFHX3_HUMAN	H	1791;877	ENSP00000268489:Q1791H;ENSP00000438926:Q877H	ENSP00000268489:Q1791H	Q	-	3	2	ZFHX3	71388709	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	0.133000	0.15912	0.949000	0.37715	-0.150000	0.13652	CAG		0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		72	431	1	0	4.37588e-27	1	5.05892e-27	72	431					A	72831208	C	A	72831208	3	1	79	1	0	0	0	0	1	0	0	0	17687	796	28	3	5746	3	ZFHX3	16	72831208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	961	72831208	17523545	16483	26800											
ZFHX3	463	broad.mit.edu	37	chr16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccataaaaactgtgtcCggggcctatgaggttagctg	11	8	0	1	rs561634666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	361					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)			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)				AAACTGTGTCCGGGGCCTATG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.001					ENST00000268489.5																			0				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						c.(1081-1083)Gga>Aga		zinc finger homeobox 3							55	68	64					16																	72992964		2195	4299	6494	SO:0001583	missense	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.chr16:72992964C>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.1081G>A	16.37:g.72992964C>T	ENSP00000268489:p.Gly361Arg					ZFHX3_ENST00000397992.5_Intron	p.G361R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1753	-		Ovarian(137;0.13)	361					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1081G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316310	0.40996	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	.	0.000000	0.47455	D	0.000224	T	0.82001	0.4942	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82141	-0.0604	10	0.46703	T	0.11	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	361	Q15911	ZFHX3_HUMAN	R	361	ENSP00000268489:G361R	ENSP00000268489:G361R	G	-	1	0	ZFHX3	71550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.448000	0.82819	0.591000	0.81541	GGA		0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		171	502	0	0	0	1	0	171	502					T	72992964	C	T	72992964	3	4	79	1	0	0	0	0	1	0	0	0	17687	661	23	1	10066	1	ZFHX3	16	72992964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161756	72992964	17361789	16484	26801											
GLG1	2734	broad.mit.edu	37	chr16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggttccccttctcccctcGaactactttcatcagacagt	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1408-1410)Cga>Tga		golgi glycoprotein 1							129	118	122					16																	74524940		2198	4300	6498	SO:0001587	stop_gained	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74524940G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1408C>T	16.37:g.74524940G>A	ENSP00000405984:p.Arg470*					GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	p.R470*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			8	1407	-			470					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	c.1408C>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850222	0.97885	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.977	16.2296	0.82322	0.0:0.0:0.8664:0.1336	.	.	.	.	X	470;459;470	.	ENSP00000205061:R470X	R	-	1	2	GLG1	73082441	1.000000	0.71417	0.941000	0.38009	0.939000	0.58152	6.367000	0.73099	1.384000	0.46424	0.655000	0.94253	CGA		0.493	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		105	449	0	0	0	1	0	105	449					A	74524940	G	A	74524940	4	1	79	1	0	0	0	0	0	1	0	0	6465	1066	37	1	2287	1	GLG1	16	74524940	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531976	74524940	15829813	16485	26802											
RFWD3	55159	broad.mit.edu	37	chr16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttcgggcataaaggaCgacaatgtcactgtgcctgg	14	9	1	0	rs535254738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1021-1023)Gtc>Atc		ring finger and WD repeat domain 3							222	193	203					16																	74678318		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678318C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1021G>A	16.37:g.74678318C>T	ENSP00000354361:p.Val341Ile					RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			6	1118	-			341					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1021G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	RFWD3	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC		0.458	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		182	578	0	0	0	1	0	182	578					T	74678318	C	T	74678318	3	4	79	1	0	0	0	0	1	0	0	0	13311	536	19	1	1335	1	RFWD3	16	74678318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153378	74678318	15676435	16486	26803											
MLKL	197259	broad.mit.edu	37	chr16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcgatttcccagaggaCgattccaaagctaaaagaaa	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1201-1203)Gtc>Atc		mixed lineage kinase domain-like							104	100	101					16																	74709292		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74709292C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1201G>A	16.37:g.74709292C>T	ENSP00000308351:p.Val401Ile					MLKL_ENST00000306247.7_Silent_p.S182S	p.V401I	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			9	1664	-			401			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1201G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802705	0.50315	.	.	ENSG00000168404	ENST00000308807	D	0.93659	-3.26	4.96	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061471	0.64402	N	0.000005	D	0.88040	0.6330	.	.	.	0.33832	D	0.630322	P	0.45348	0.856	B	0.40165	0.321	D	0.88334	0.2970	9	0.23891	T	0.37	-20.2887	9.8095	0.40815	0.0:0.9015:0.0:0.0985	.	401	Q8NB16	MLKL_HUMAN	I	401	ENSP00000308351:V401I	ENSP00000308351:V401I	V	-	1	0	MLKL	73266793	0.995000	0.38212	0.999000	0.59377	0.946000	0.59487	1.105000	0.31086	1.398000	0.46701	0.498000	0.49722	GTC		0.483	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		113	348	0	0	0	1	0	113	348					T	74709292	C	T	74709292	3	4	79	1	0	0	0	0	1	0	0	0	9660	536	19	1	257	1	MLKL	16	74709292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30974	74709292	15645461	16487	26804											
ZNRF1	84937	broad.mit.edu	37	chr16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatgatgtgctgactaaaGacgcgggtgagtgtgtgatc	15	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000335325.4	+	3	1180	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	180					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587																																						ENST00000335325.4																			0				breast(1)	1						c.(538-540)Gac>Tac		zinc and ring finger 1, E3 ubiquitin protein ligase							87	68	74					16																	75138699		2198	4300	6498	SO:0001583	missense	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75138699G>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"RING-type (C3HC4) zinc fingers"	18452	protein-coding gene	gene with protein product		612060	"zinc and ring finger 1"				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.538G>T	16.37:g.75138699G>T	ENSP00000335091:p.Asp180Tyr					ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y	p.D180Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN			3	1180	+			180					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.538G>T	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880101	0.91740	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52983	0.64	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);	0.045801	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.988;0.994	T	0.68398	-0.5419	10	0.87932	D	0	-16.4321	20.8794	0.99867	0.0:0.0:1.0:0.0	.	180;231;180	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	Y	231;180	ENSP00000335091:D180Y	ENSP00000323362:D231Y	D	+	1	0	ZNRF1	73696200	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	9.672000	0.98629	2.941000	0.99782	0.655000	0.94253	GAC		0.587	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			11	52	1	0	0.000978159	1	0.000988919	11	52					T	75138699	G	T	75138699	3	4	79	1	0	0	0	0	1	0	0	0	18264	942	33	3	548	3	ZNRF1	16	75138699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429407	75138699	15216054	16488	26805											
BCAR1	9564	broad.mit.edu	37	chr16	75263526	75263526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtactgcaaggcagcGgccttggtggtggccacgat	17	9	0	0	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000162330.5	-	7	2622	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000393420.6_Silent_p.A850A|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000538440.2_Silent_p.A832A	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	832					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2407-2409)gcC>gcT		breast cancer anti-estrogen resistance 1		G	,,,,,,,,	0,4394		0,0,2197	38	29	32		2634,2550,2550,2550,2496,2490,2052,1866,2496	-9.8	0	16	dbSNP_134	32	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,	878/917,850/889,850/889,850/889,832/871,830/869,684/723,622/661,832/871	75263526	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263526G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2496C>T	16.37:g.75263526G>A						BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000393420.6_Silent_p.A850A|BCAR1_ENST00000162330.5_Silent_p.A832A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000566982.1_5'UTR	p.A803A			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	4061	-			832					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.2409C>T	CCDS10915.1																																																																																				0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		17	145	0	0	0	1	0	17	145					A	75263526	G	A	75263526	2	1	79	1	0	0	0	0	0	0	0	1	1349	1103	39	1		1	BCAR1	16	75263526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124827	75263526	15091227	16489	26806											
BCAR1	9564	broad.mit.edu	37	chr16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggctcttgccctgccGcgtgatgctgcccttttcca	10	16	1	1	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000162330.5	-	6	2194	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	690					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1981-1983)Cgg>Tgg		breast cancer anti-estrogen resistance 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	39	35	37		2206,2122,2122,2122,2068,2062,1624,1438,2068	4.4	1	16	dbSNP_134	37	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	101,101,101,101,101,101,101,101,101	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	736/917,708/889,708/889,708/889,690/871,688/869,542/723,480/661,690/871	75267776	2,12992	2198	4299	6497	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75267776G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2068C>T	16.37:g.75267776G>A	ENSP00000162330:p.Arg690Trp					BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000162330.5_Missense_Mutation_p.R690W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000566982.1_5'UTR	p.R661W			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	3633	-			690					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1981C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994052	0.74703	0.0	2.33E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.34	4.37	0.52481	CAS family, DUF3513 (1);	0.125811	0.50627	D	0.000115	T	0.41213	0.1149	L	0.43152	1.355	0.40525	D	0.980876	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.997;0.995;0.995;0.997;0.985;0.997;0.994	T	0.33979	-0.9847	10	0.72032	D	0.01	-47.822	11.3366	0.49507	0.0:0.0:0.67:0.33	.	708;542;736;688;708;708;690;690;480	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	W	690;708;708;690;736;542;708;688;661	ENSP00000162330:R690W;ENSP00000377074:R708W;ENSP00000392708:R708W;ENSP00000443841:R690W;ENSP00000391669:R736W;ENSP00000440370:R542W;ENSP00000377072:R708W;ENSP00000440415:R688W;ENSP00000442161:R661W	ENSP00000162330:R690W	R	-	1	2	BCAR1	73825277	0.987000	0.35691	1.000000	0.80357	0.839000	0.47603	1.029000	0.30140	1.368000	0.46115	0.655000	0.94253	CGG		0.642	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		13	67	0	0	0	1	0	13	67					A	75267776	G	A	75267776	3	1	79	1	0	0	0	0	1	0	0	0	1349	1086	38	1	552	1	BCAR1	16	75267776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	75267776	15086977	16490	26807											
BCAR1	9564	broad.mit.edu	37	chr16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtactgggaggccggagGcgctggggcatggaggccag	21	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000162330.5	-	2	406	c.280C>T	c.(280-282)Cct>Tct	p.P94S	BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	94					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(193-195)Cct>Tct		breast cancer anti-estrogen resistance 1							34	37	36					16																	75276721		2198	4299	6497	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276721G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.280C>T	16.37:g.75276721G>A	ENSP00000162330:p.Pro94Ser					BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P94S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S	p.P65S			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1845	-			94			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.193C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405442	0.00195	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.0	2.74	0.32292	.	0.733051	0.11840	N	0.524401	T	0.73337	0.3574	L	0.34521	1.04	0.20403	N	0.999903	B;P;D;B;P;B;B	0.67145	0.136;0.948;0.996;0.033;0.492;0.007;0.05	B;P;D;B;B;B;B	0.78314	0.02;0.68;0.991;0.04;0.112;0.007;0.02	T	0.61058	-0.7139	10	0.09843	T	0.71	-18.0329	6.4284	0.21782	0.2322:0.0:0.7678:0.0	.	112;140;92;94;112;94;94	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	94;112;112;94;140;94;92;65	ENSP00000162330:P94S;ENSP00000377074:P112S;ENSP00000392708:P112S;ENSP00000443841:P94S;ENSP00000391669:P140S;ENSP00000377072:P94S;ENSP00000440415:P92S;ENSP00000442161:P65S	ENSP00000162330:P94S	P	-	1	0	BCAR1	73834222	0.223000	0.23663	0.144000	0.22314	0.035000	0.12851	0.902000	0.28459	1.929000	0.55896	0.655000	0.94253	CCT		0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		89	381	0	0	0	1	0	89	381					A	75276721	G	A	75276721	3	1	79	1	0	0	0	0	1	0	0	0	1349	1203	42	2	2417	2	BCAR1	16	75276721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8945	75276721	15078032	16491	26808											
TMEM170A	124491	broad.mit.edu	37	chr16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagttggggcacagggtcCcgttgcccacccgcggcaca	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000561878.1	-	1	189	c.92G>T	c.(91-93)gGg>gTg	p.G31V	TMEM170A_ENST00000569540.1_5'Flank|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000357613.4_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000561887.1_5'UTR|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral component of membrane (GO:0016021)				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746																																						ENST00000357613.4																			0				endometrium(1)	1						c.(91-93)gGg>gTg		transmembrane protein 170A							34	31	32					16																	75498407		2193	4289	6482	SO:0001583	missense	124491					integral to membrane		g.chr16:75498407C>A	BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822			29577	protein-coding gene	gene with protein product			"transmembrane protein 170"	TMEM170		12477932	Standard	NM_145254		Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000561878.1:c.92G>T	16.37:g.75498407C>A	ENSP00000454404:p.Gly31Val					TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000561878.1_Missense_Mutation_p.G31V	p.G31V			Q8WVE7	T170A_HUMAN			1	180	-			31					B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	Missense_Mutation	SNP	ENST00000561878.1	37	c.92G>T	CCDS10917.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441336	0.63067	.	.	ENSG00000166822	ENST00000357613	.	.	.	5.5	4.55	0.56014	.	0.196110	0.53938	D	0.000044	T	0.29882	0.0747	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12502	-1.0545	9	0.15952	T	0.53	-6.9541	9.2532	0.37568	0.0:0.9036:0.0:0.0964	.	31;31	Q8WVE7;Q8WVE7-2	T170A_HUMAN;.	V	31	.	ENSP00000350230:G31V	G	-	2	0	TMEM170A	74055908	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.978000	0.29488	2.593000	0.87608	0.655000	0.94253	GGG		0.746	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	NM_145254		42	124	1	0	3.38236e-24	1	3.86174e-24	42	124					A	75498407	C	A	75498407	3	1	79	1	0	0	0	0	1	0	0	0	16138	623	22	3	354	3	TMEM170A	16	75498407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221686	75498407	14856346	16492	26809											
CHST6	4166	broad.mit.edu	37	chr16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcgcatggcgccagGcctgggagacgttgagcgca	18	11	0	2	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	ENST00000332272.4	-	3	1174	c.995C>A	c.(994-996)gCc>gAc	p.A332D	CHST6_ENST00000390664.2_Missense_Mutation_p.A332D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	332					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)			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						ATGGCGCCAGGCCTGGGAGAC	0.642																																						ENST00000332272.4																			0				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						c.(994-996)gCc>gAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							65	59	61					16																	75512732		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.chr16:75512732G>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.995C>A	16.37:g.75512732G>T	ENSP00000328983:p.Ala332Asp					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A332D	p.A332D	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1174	-			332					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.995C>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225761	0.79576	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	T;T	0.79554	-1.28;-1.28	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.89287	3.02	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.89635	0.3858	10	0.27082	T	0.32	.	15.563	0.76266	0.0:0.0:1.0:0.0	.	332	Q9GZX3	CHST6_HUMAN	D	332	ENSP00000328983:A332D;ENSP00000375079:A332D	ENSP00000328983:A332D	A	-	2	0	CHST6	74070233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.740000	0.84986	2.278000	0.76064	0.591000	0.81541	GCC		0.642	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		18	497	1	0	5.03518e-11	1	5.3609e-11	18	497					T	75512732	G	T	75512732	3	4	79	1	0	0	0	0	1	0	0	0	3417	1203	42	3	196	3	CHST6	16	75512732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14325	75512732	14842021	16493	26810											
CHST6	4166	broad.mit.edu	37	chr16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagggccctggccgggAaaccagaaagaggaggagga	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	CHST6_ENST00000390664.2_Missense_Mutation_p.S27T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	27					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)			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						CCTGGCCGGGAAACCAGAAAG	0.687																																						ENST00000332272.4																			0				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						c.(79-81)Tcc>Acc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							13	16	15					16																	75513648		2189	4294	6483	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513648A>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.79T>A	16.37:g.75513648A>T	ENSP00000328983:p.Ser27Thr					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	p.S27T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	258	-			27					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.79T>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339809	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96334	-3.98;-3.98	5.01	2.62	0.31277	.	1.219520	0.06151	N	0.674135	D	0.91841	0.7418	L	0.29908	0.895	0.33931	D	0.642091	B	0.14438	0.01	B	0.08055	0.003	D	0.85804	0.1375	10	0.18276	T	0.48	.	7.2899	0.26360	0.7159:0.144:0.0:0.1401	.	27	Q9GZX3	CHST6_HUMAN	T	27	ENSP00000328983:S27T;ENSP00000375079:S27T	ENSP00000328983:S27T	S	-	1	0	CHST6	74071149	0.375000	0.25089	0.997000	0.53966	0.293000	0.27360	1.087000	0.30865	1.871000	0.54225	0.482000	0.46254	TCC		0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		27	74	0	0	0	1	0	27	74					T	75513648	A	T	75513648	3	4	79	1	0	0	0	0	1	0	0	0	3417	246	9	5	1112	5	CHST6	16	75513648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	916	75513648	14841105	16494	26811											
CHST5	23563	broad.mit.edu	37	chr16	75563056	75563056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagagttctcagtcaggCgatgcccagctgaagtggtc	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	409					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)|protein sulfation (GO:0006477)|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)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1225-1227)tcG>tcA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							31	25	27					16																	75563056		2197	4298	6495	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563056C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1227G>A	16.37:g.75563056C>T						RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	p.S409S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2621	-			409					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.1227G>A	CCDS10919.1																																																																																				0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		10	177	0	0	0	1	0	10	177					T	75563056	C	T	75563056	2	4	79	1	0	0	0	0	0	0	0	1	3416	755	27	1		1	CHST5	16	75563056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49408	75563056	14791697	16495	26812											
CHST5	23563	broad.mit.edu	37	chr16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcgcgcaccaggtgcaCgatgcgcaggttgagcgcgg	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	220					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)|protein sulfation (GO:0006477)|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)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(658-660)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							42	47	46					16																	75563625		2197	4299	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563625C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.658G>A	16.37:g.75563625C>T	ENSP00000338783:p.Val220Met					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	p.V220M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2052	-			220					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.658G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688457	0.29962	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.29142	1.58;1.58	2.84	1.87	0.25490	Sulfotransferase domain (1);	0.204220	0.40222	N	0.001141	T	0.47563	0.1452	M	0.79805	2.47	0.40904	D	0.984174	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.49224	-0.8962	10	0.52906	T	0.07	.	3.652	0.08206	0.0:0.6029:0.0:0.3971	.	226;220	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	220;226	ENSP00000338783:V220M;ENSP00000441220:V226M	ENSP00000338783:V220M	V	-	1	0	CHST5	74121126	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.279000	0.43435	1.583000	0.49898	0.313000	0.20887	GTG		0.697	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		118	590	0	0	0	1	0	118	590					T	75563625	C	T	75563625	3	4	79	1	0	0	0	0	1	0	0	0	3416	536	19	1	581	1	CHST5	16	75563625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	75563625	14791128	16496	26813											
GABARAPL2	11345	broad.mit.edu	37	chr16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagattcgagcgaaatatcCcgacagggttccggtgagtg	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	26					autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627																																						ENST00000037243.2																			0				lung(1)|ovary(1)	2						c.(76-78)cCc>cTc		GABA(A) receptor-associated protein-like 2							55	50	51					16																	75600792		2198	4300	6498	SO:0001583	missense	11345				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding	g.chr16:75600792C>T	AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.77C>T	16.37:g.75600792C>T	ENSP00000037243:p.Pro26Leu					GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L	p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN			2	213	+			26					O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	37	c.77C>T	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726844	0.96847	.	.	ENSG00000034713	ENST00000037243	T	0.53857	0.6	5.4	5.4	0.78164	.	0.048229	0.85682	N	0.000000	T	0.67702	0.2921	M	0.88450	2.955	0.80722	D	1	B	0.28082	0.2	B	0.37731	0.257	T	0.71484	-0.4579	10	0.72032	D	0.01	-3.1656	17.7527	0.88439	0.0:1.0:0.0:0.0	.	26	P60520	GBRL2_HUMAN	L	26	ENSP00000037243:P26L	ENSP00000037243:P26L	P	+	2	0	GABARAPL2	74158293	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	7.115000	0.77110	2.544000	0.85801	0.655000	0.94253	CCC		0.627	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	NM_007285		68	227	0	0	0	1	0	68	227					T	75600792	C	T	75600792	3	4	79	1	0	0	0	0	1	0	0	0	6181	623	22	2	83	2	GABARAPL2	16	75600792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37167	75600792	14753961	16497	26814											
ADAT1	23536	broad.mit.edu	37	chr16	75642133	75642133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtaccttgcctgaagGcttccaattgttttctttgt	8	9	1	1	rs371519531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	426	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443																																						ENST00000307921.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(1276-1278)agC>agT		adenosine deaminase, tRNA-specific 1							258	230	240					16																	75642133		2198	4300	6498	SO:0001819	synonymous_variant	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75642133G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1278C>T	16.37:g.75642133G>A						RP11-77K12.8_ENST00000564489.1_RNA	p.S426S	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN			9	1423	-			426			A to I editase.		Q9NVB7|Q9UNG3	Silent	SNP	ENST00000307921.3	37	c.1278C>T	CCDS10922.1																																																																																				0.443	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		229	1015	0	0	0	1	0	229	1015					A	75642133	G	A	75642133	2	1	79	1	0	0	0	0	0	0	0	1	284	1194	42	2		2	ADAT1	16	75642133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41341	75642133	14712620	16498	26815											
KARS	3735	broad.mit.edu	37	chr16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggatcattcagctcagTatacgcattgcatatctctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000302445.3	-	12	1537	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	KARS_ENST00000319410.5_Missense_Mutation_p.T528A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	500					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1582-1584)Act>Gct		lysyl-tRNA synthetase	L-Lysine(DB00123)						177	176	176					16																	75663366		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75663366T>C	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1498A>G	16.37:g.75663366T>C	ENSP00000303043:p.Thr500Ala					KARS_ENST00000302445.3_Missense_Mutation_p.T500A|KARS_ENST00000568378.1_Intron	p.T528A	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			13	1703	-			500					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1582A>G	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227218	0.95173	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84442	-1.85;-1.85	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.94771	3.58	0.80722	D	1	P;D	0.61080	0.928;0.989	P;P	0.62491	0.635;0.903	D	0.95310	0.8411	10	0.87932	D	0	-18.1764	15.0088	0.71533	0.0:0.0:0.0:1.0	.	528;500	Q15046-2;Q15046	.;SYK_HUMAN	A	528;500	ENSP00000325448:T528A;ENSP00000303043:T500A	ENSP00000303043:T500A	T	-	1	0	KARS	74220867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.013000	0.88655	2.221000	0.72209	0.455000	0.32223	ACT		0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		100	1177	0	0	0	1	0	100	1177					C	75663366	T	C	75663366	3	2	79	1	0	0	0	0	1	0	0	0	8010	1638	57	4	307	4	KARS	16	75663366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21233	75663366	14691387	16499	26816											
TERF2IP	54386	broad.mit.edu	37	chr16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattttgaaatacataTaactatgtgtgatgatgatc	7	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(829-831)aTa>aCa		telomeric repeat binding factor 2, interacting protein							91	94	93					16																	75690139		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690139T>C	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.830T>C	16.37:g.75690139T>C	ENSP00000300086:p.Ile277Thr						p.I277T	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	927	+			277			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.830T>C	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519194	0.44866	.	.	ENSG00000166848	ENST00000300086	T	0.50548	0.74	5.02	5.02	0.67125	.	0.456793	0.24128	N	0.041294	T	0.27832	0.0685	N	0.19112	0.55	0.26115	N	0.980632	B	0.13594	0.008	B	0.09377	0.004	T	0.12993	-1.0526	10	0.14656	T	0.56	-9.2054	7.6006	0.28073	0.0:0.0938:0.0:0.9062	.	277	Q9NYB0	TE2IP_HUMAN	T	277	ENSP00000300086:I277T	ENSP00000300086:I277T	I	+	2	0	TERF2IP	74247640	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	2.228000	0.72767	0.482000	0.46254	ATA		0.413	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		85	420	0	0	0	1	0	85	420					C	75690139	T	C	75690139	3	2	79	1	0	0	0	0	1	0	0	0	15815	1406	49	4	840	4	TERF2IP	16	75690139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26773	75690139	14664614	16500	26817											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389355	76389355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagctacctcctgatgTtcagtgatagtggctggaac	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	ENST00000476707.1	+	2	485	c.346T>G	c.(346-348)Ttc>Gtc	p.F116V	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F112V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	113	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTCCTGATGTTCAGTGATAG	0.483																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(334-336)Ttc>Gtc		contactin associated protein-like 4							100	91	94					16																	76389355		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389355T>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.346T>G	16.37:g.76389355T>G	ENSP00000417628:p.Phe116Val					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.F116V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V	p.F112V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			4	719	+			113			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.334T>G		.	.	.	.	.	.	.	.	.	.	T	22.0	4.235826	0.79800	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42420	D	0.000711	D	0.98485	0.9495	.	.	.	0.45883	D	0.998738	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.995;0.992;0.99;1.0	D	0.99285	1.0897	9	0.87932	D	0	.	12.6038	0.56511	0.0:0.0:0.0:1.0	.	88;116;88;113	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	112;112;88;116	ENSP00000306893:F112V;ENSP00000439733:F112V;ENSP00000418741:F88V;ENSP00000417628:F116V	ENSP00000306893:F112V	F	+	1	0	CNTNAP4	74946856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.145000	0.66743	0.482000	0.46254	TTC		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		32	447	0	0	0	1	0	32	447					G	76389355	T	G	76389355	3	3	79	1	0	0	0	0	1	0	0	0	3658	1725	60	4	360	4	CNTNAP4	16	76389355	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699216	76389355	13965398	16501	26818											
CNTNAP4	85445	broad.mit.edu	37	chr16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccacagatcattgctAtggtgagagtctttatgcga	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000476707.1	+	6	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTGCTATGGTGAGAGT	0.338																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1066-1068)Atg>Ttg		contactin associated protein-like 4							42	40	41					16																	76483753		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76483753A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1078A>T	16.37:g.76483753A>T	ENSP00000417628:p.Met360Leu					CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M360L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Intron	p.M356L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			8	1451	+			357			Laminin G-like 1.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1066A>T		.	.	.	.	.	.	.	.	.	.	A	11.39	1.625272	0.28889	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.77877	-1.13;-1.13	5.43	3.1	0.35709	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.56746	0.2006	.	.	.	0.26725	N	0.970691	B;B;B	0.16396	0.008;0.004;0.017	B;B;B	0.19391	0.012;0.017;0.025	T	0.34428	-0.9829	9	0.19590	T	0.45	.	1.6134	0.02698	0.5569:0.1547:0.1396:0.1489	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	L	356;360	ENSP00000306893:M356L;ENSP00000417628:M360L	ENSP00000306893:M356L	M	+	1	0	CNTNAP4	75041254	0.032000	0.19561	0.033000	0.17914	0.088000	0.18126	1.286000	0.33273	0.447000	0.26695	-0.336000	0.08194	ATG		0.338	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	61	0	0	0	1	0	8	61					T	76483753	A	T	76483753	3	4	79	1	0	0	0	0	1	0	0	0	3658	449	16	5	1108	5	CNTNAP4	16	76483753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94398	76483753	13871000	16502	26819											
CNTNAP4	85445	broad.mit.edu	37	chr16	76569448	76569448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcccttttaggtggaaCggccaccagacagagaggct	11	10	0	2	rs536912652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76569448C>T	ENST00000476707.1	+	17	2910	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T920M			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	921	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGGTGGAACGGCCACCAGA	0.478																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2758-2760)aCg>aTg		contactin associated protein-like 4							52	57	56					16																	76569448		2190	4299	6489	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569448C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2771C>T	16.37:g.76569448C>T	ENSP00000417628:p.Thr924Met					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T924M|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M	p.T920M	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			19	3144	+			921			Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2759C>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.475060	0.84640	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	D	0.000641	T	0.71178	0.3309	.	.	.	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.99;0.997	T	0.74636	-0.3599	9	0.87932	D	0	.	18.8927	0.92412	0.0:1.0:0.0:0.0	.	848;924;921	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	M	920;872;848;924	ENSP00000306893:T920M;ENSP00000439733:T872M;ENSP00000418741:T848M;ENSP00000417628:T924M	ENSP00000306893:T920M	T	+	2	0	CNTNAP4	75126949	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.651000	0.83577	2.687000	0.91594	0.655000	0.94253	ACG		0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		42	272	0	0	0	1	0	42	272					T	76569448	C	T	76569448	3	4	79	1	0	0	0	0	1	0	0	0	3658	536	19	1	2845	1	CNTNAP4	16	76569448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85695	76569448	13785305	16503	26820											
CNTNAP4	85445	broad.mit.edu	37	chr16	76592577	76592577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcagaaagagtacttcttCtgattggcagctatgattta	8	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76592577C>T	ENST00000476707.1	+	23	4072	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000478060.1_Silent_p.F1235F|CNTNAP4_ENST00000377504.4_Silent_p.F1259F|CNTNAP4_ENST00000307431.8_Silent_p.F1307F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1308					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3919-3921)ttC>ttT		contactin associated protein-like 4							46	44	44					16																	76592577		1851	4102	5953	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592577C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3933C>T	16.37:g.76592577C>T						CNTNAP4_ENST00000478060.1_Silent_p.F1235F|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000476707.1_Silent_p.F1311F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.F1259F	p.F1307F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			25	4306	+			1308					E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.3921C>T																																																																																					0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		27	122	0	0	0	1	0	27	122					T	76592577	C	T	76592577	2	4	79	1	0	0	0	0	0	0	0	1	3658	912	32	2		2	CNTNAP4	16	76592577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23129	76592577	13762176	16504	26821											
MON1B	22879	broad.mit.edu	37	chr16	77228783	77228783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcctacgtggcccgcCtggatgctatgcctgtctgc	11	15	2	0	rs533041353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000248248.3	+	4	1377	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.L234L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	343										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1027-1029)Ctg>Ttg		MON1 secretory trafficking family member B							99	102	101					16																	77228783		2198	4300	6498	SO:0001819	synonymous_variant	22879						protein binding	g.chr16:77228783C>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1027C>T	16.37:g.77228783C>T						MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000439557.2_Silent_p.L234L|MON1B_ENST00000320859.6_Intron	p.L343L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	1377	+			343					B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	c.1027C>T	CCDS10925.1																																																																																				0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		120	617	0	0	0	1	0	120	617					T	77228783	C	T	77228783	2	4	79	1	0	0	0	0	0	0	0	1	9740	680	24	2		2	MON1B	16	77228783	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636206	77228783	13125970	16505	26822											
MON1B	22879	broad.mit.edu	37	chr16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctatgcctgtctgcctgCtgctgcttggcacccaacgt	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000248248.3	+	4	1401	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	351										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1051-1053)Ctg>Atg		MON1 secretory trafficking family member B							92	94	93					16																	77228807		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228807C>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1051C>A	16.37:g.77228807C>A	ENSP00000248248:p.Leu351Met					MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M|MON1B_ENST00000320859.6_Intron	p.L351M	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	1401	+			351					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1051C>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248251	0.59103	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.53	3.49	0.39957	.	0.145145	0.44688	D	0.000439	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.994	D;D;D;D	0.70935	0.94;0.971;0.964;0.94	T	0.66586	-0.5886	9	0.39692	T	0.17	.	10.4658	0.44607	0.0:0.6801:0.3198:0.0	.	205;242;231;351	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	M	351;242;205	.	ENSP00000248248:L351M	L	+	1	2	MON1B	75786308	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	0.901000	0.28445	2.456000	0.83038	0.563000	0.77884	CTG		0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		167	460	1	0	4.62547e-62	1	5.82772e-62	167	460					A	77228807	C	A	77228807	3	1	79	1	0	0	0	0	1	0	0	0	9740	796	28	3	1061	3	MON1B	16	77228807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	77228807	13125946	16506	26823											
ADAMTS18	170692	broad.mit.edu	37	chr16	77323306	77323306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccacaggtgactgtGcactgcagcagagagaagag	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1135	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3403-3405)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 18							61	65	63					16																	77323306		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77323306G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3405C>T	16.37:g.77323306G>A						RP11-538I12.3_ENST00000561672.1_RNA	p.C1135C	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			22	3823	-			1135			TSP type-1 5.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3405C>T	CCDS10926.1																																																																																				0.532	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			123	366	0	0	0	1	0	123	366					A	77323306	G	A	77323306	2	1	79	1	0	0	0	0	0	0	0	1	263	1311	46	2		2	ADAMTS18	16	77323306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94499	77323306	13031447	16507	26824											
ADAMTS18	170692	broad.mit.edu	37	chr16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttacctgagaccagggtCcaaggctccattgtggaggg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2992-2994)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							87	70	76					16																	77328833		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77328833C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2993G>A	16.37:g.77328833C>T	ENSP00000282849:p.Gly998Glu						p.G998E	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			19	3411	-			998			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2993G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550931	0.65311	.	.	ENSG00000140873	ENST00000282849	T	0.63417	-0.04	5.79	4.84	0.62591	.	0.119417	0.56097	D	0.000025	T	0.78266	0.4256	M	0.81341	2.54	0.40781	D	0.983175	D;D	0.67145	0.996;0.986	D;D	0.69824	0.966;0.955	T	0.79806	-0.1648	10	0.39692	T	0.17	.	13.9284	0.63978	0.0:0.9275:0.0:0.0725	.	998;998	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	E	998	ENSP00000282849:G998E	ENSP00000282849:G998E	G	-	2	0	ADAMTS18	75886334	1.000000	0.71417	0.655000	0.29622	0.606000	0.37113	7.202000	0.77856	1.454000	0.47793	0.655000	0.94253	GGA		0.537	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			6	236	0	0	0	1	0	6	236					T	77328833	C	T	77328833	3	4	79	1	0	0	0	0	1	0	0	0	263	855	30	2	692	2	ADAMTS18	16	77328833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5527	77328833	13025920	16508	26825											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtttccggtcagtgtgGgagacatgatattgccttca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	463	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1387-1389)cCc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							141	121	128					16																	77389909		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389909G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1388C>T	16.37:g.77389909G>A	ENSP00000282849:p.Pro463Leu						p.P463L	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			9	1806	-			463			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1388C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097467	0.76870	.	.	ENSG00000140873	ENST00000282849	T	0.03441	3.93	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.986;0.995	T	0.44190	-0.9344	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	463;463	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	463	ENSP00000282849:P463L	ENSP00000282849:P463L	P	-	2	0	ADAMTS18	75947410	1.000000	0.71417	0.828000	0.32881	0.312000	0.27988	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CCC		0.458	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			137	324	0	0	0	1	0	137	324					A	77389909	G	A	77389909	3	1	79	1	0	0	0	0	1	0	0	0	263	1232	43	2	2337	2	ADAMTS18	16	77389909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61076	77389909	12964844	16509	26826											
ADAMTS18	170692	broad.mit.edu	37	chr16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgatcttctgggtcGcccagagctcccatattcat	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	281					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(841-843)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							81	77	78					16																	77398216		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77398216G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.841C>T	16.37:g.77398216G>A	ENSP00000282849:p.Arg281*						p.R281*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			5	1259	-			281					Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.841C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521404	0.97633	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	0.466	0.16716	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3354	0.74247	0.0:0.0:0.2693:0.7307	.	.	.	.	X	281	.	ENSP00000282849:R281X	R	-	1	2	ADAMTS18	75955717	0.004000	0.15560	0.823000	0.32752	0.966000	0.64601	0.095000	0.15127	0.251000	0.21505	-0.282000	0.10007	CGA		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			88	242	0	0	0	1	0	88	242					A	77398216	G	A	77398216	4	1	79	1	0	0	0	0	0	1	0	0	263	1095	38	1	2900	1	ADAMTS18	16	77398216	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8307	77398216	12956537	16510	26827											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401620	77401620	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtccttattaaacctgActaaaaagccaaacacaaag	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	166					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.e4-1		ADAM metallopeptidase with thrombospondin type 1 motif, 18							97	89	92					16																	77401620		2198	4300	6498	SO:0001630	splice_region_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401620A>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.496-1T>G	16.37:g.77401620A>C						ADAMTS18_ENST00000567121.1_5'UTR	p.S166_splice	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	914	-			166					Q6P4R5|Q6ZWJ9	Splice_Site	SNP	ENST00000282849.5	37	c.495_splice	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781749	0.31502	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	4.72	3.62	0.41486	Peptidase M12B, propeptide (1);	0.157146	0.44902	D	0.000408	T	0.04998	0.0134	L	0.33485	1.01	0.41481	D	0.988164	B	0.12013	0.005	B	0.18263	0.021	T	0.30060	-0.9991	10	0.09843	T	0.71	.	10.0528	0.42225	0.8493:0.0:0.0:0.1507	.	166	Q8TE60	ATS18_HUMAN	A	166	ENSP00000282849:S166A;ENSP00000392540:S166A	ENSP00000282849:S166A	S	-	1	0	ADAMTS18	75959121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.863000	0.56016	0.813000	0.34350	0.454000	0.30748	TCA		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		Missense_Mutation	96	314	0	0	0	1	0	96	314					C	77401620	A	C	77401620	5	2	79	1	0	0	0	0	0	0	1	0	263	289	10	4	3249	4	ADAMTS18	16	77401620	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3404	77401620	12953133	16511	26828											
VAT1L	57687	broad.mit.edu	37	chr16	77850827	77850827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttacagtggattaaaCttcattgacttgatggtgcg	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	81							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGATTAAACTTCATTGACT	0.428																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(241-243)aaC>aaT		vesicle amine transport 1-like							103	97	99					16																	77850827		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850827C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.243C>T	16.37:g.77850827C>T							p.N81N	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			2	396	+			81					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.243C>T	CCDS32492.1																																																																																				0.428	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		15	420	0	0	0	1	0	15	420					T	77850827	C	T	77850827	2	4	79	1	0	0	0	0	0	0	0	1	17184	564	20	2		2	VAT1L	16	77850827	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449207	77850827	12503926	16512	26829											
WWOX	51741	broad.mit.edu	37	chr16	78149014	78149014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgggatttcactggCaaagtggttgtggtcactgg	16	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	124					cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTCACTGGCAAAGTGGTTG	0.478																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(370-372)ggC>ggT		WW domain containing oxidoreductase							94	94	94					16																	78149014		1857	4095	5952	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78149014C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.372C>T	16.37:g.78149014C>T						WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G	p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	4	738	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	124					A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.372C>T	CCDS42196.1																																																																																				0.478	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			142	427	0	0	0	1	0	142	427					T	78149014	C	T	78149014	2	4	79	1	0	0	0	0	0	0	0	1	17468	697	25	2		2	WWOX	16	78149014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298187	78149014	12205739	16513	26830											
MAF	4094	broad.mit.edu	37	chr16	79633438	79633438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgccctggagctggtggCtgttgctgatgagcgcctcg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	ENST00000393350.1	-	1	1173	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_ENST00000326043.4_Missense_Mutation_p.S121N|MAF_ENST00000569649.1_Missense_Mutation_p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	121					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GAGCTGGTGGCTGTTGCTGAT	0.736			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(361-363)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							4	4	4					16																	79633438		1804	3735	5539	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633438C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.362G>A	16.37:g.79633438C>T	ENSP00000377019:p.Ser121Asn					MAF_ENST00000569649.1_Missense_Mutation_p.S121N|MAF_ENST00000326043.4_Missense_Mutation_p.S121N	p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1173	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	121					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.362G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384905	0.25031	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	3.01	2.0	0.26442	.	0.104535	0.64402	D	0.000003	D	0.93562	0.7945	L	0.32530	0.975	0.32007	N	0.602629	B;P	0.36535	0.421;0.557	B;B	0.32864	0.074;0.154	D	0.91611	0.5303	10	0.31617	T	0.26	.	11.5877	0.50929	0.0:0.8167:0.1833:0.0	.	121;121	O75444;O75444-1	MAF_HUMAN;.	N	121	ENSP00000327048:S121N;ENSP00000377019:S121N	ENSP00000327048:S121N	S	-	2	0	MAF	78190939	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.998000	0.49465	0.554000	0.29061	0.638000	0.83543	AGC		0.736	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			8	33	0	0	0	1	0	8	33					T	79633438	C	T	79633438	3	4	79	1	0	0	0	0	1	0	0	0	9194	797	28	2	861	2	MAF	16	79633438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1484424	79633438	10721315	16514	26831											
MAF	4094	broad.mit.edu	37	chr16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggaagggggcaccgagCtgcacggcgtgctcatgggg	21	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000326043.4_Missense_Mutation_p.S65N|MAF_ENST00000569649.1_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	65					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(193-195)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							16	19	18					16																	79633606		2193	4298	6491	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633606C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.194G>A	16.37:g.79633606C>T	ENSP00000377019:p.Ser65Asn					MAF_ENST00000569649.1_Missense_Mutation_p.S65N|MAF_ENST00000326043.4_Missense_Mutation_p.S65N	p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1005	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	65					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.194G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340061	0.60963	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98835	-5.17;-5.14	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.99360	1.0917	10	0.49607	T	0.09	-6.6173	15.9937	0.80225	0.0:1.0:0.0:0.0	.	65;65	O75444;O75444-1	MAF_HUMAN;.	N	65	ENSP00000327048:S65N;ENSP00000377019:S65N	ENSP00000327048:S65N	S	-	2	0	MAF	78191107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.830000	0.53286	0.638000	0.83543	AGC		0.682	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			29	154	0	0	0	1	0	29	154					T	79633606	C	T	79633606	3	4	79	1	0	0	0	0	1	0	0	0	9194	797	28	2	1029	2	MAF	16	79633606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	79633606	10721147	16515	26832											
CDYL2	124359	broad.mit.edu	37	chr16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtcttggtggccctgTcacctcctgaagagggcttg	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	129						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCCCTGTCACCTCCTGA	0.542																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(385-387)gAc>gGc		chromodomain protein, Y-like 2							81	84	83					16																	80718665		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718665T>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.386A>G	16.37:g.80718665T>C	ENSP00000476295:p.Asp129Gly					CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G	p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	541	-			129					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.386A>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345323	0.24426	.	.	ENSG00000166446	ENST00000299564	T	0.56776	0.44	5.14	5.14	0.70334	.	0.432209	0.23830	N	0.044141	T	0.46405	0.1391	N	0.14661	0.345	0.46542	D	0.999092	D	0.58620	0.983	P	0.55222	0.771	T	0.30679	-0.9970	10	0.12430	T	0.62	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	129	Q8N8U2	CDYL2_HUMAN	G	129	ENSP00000299564:D129G	ENSP00000299564:D129G	D	-	2	0	CDYL2	79276166	1.000000	0.71417	0.987000	0.45799	0.061000	0.15899	4.807000	0.62576	2.154000	0.67381	0.482000	0.46254	GAC		0.542	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		77	337	0	0	0	1	0	77	337					C	80718665	T	C	80718665	3	2	79	1	0	0	0	0	1	0	0	0	3195	1667	58	4	1158	4	CDYL2	16	80718665	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1085059	80718665	9636088	16516	26833											
CDYL2	124359	broad.mit.edu	37	chr16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcaaccgacgggcctcGactgtcacgcagcagcttgg	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GACGGGCCTCGACTGTCACGC	0.522																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(244-246)Cga>Tga		chromodomain protein, Y-like 2							111	94	100					16																	80718807		2203	4300	6503	SO:0001587	stop_gained	124359					nucleus	catalytic activity|protein binding	g.chr16:80718807G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.244C>T	16.37:g.80718807G>A	ENSP00000476295:p.Arg82*					CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*	p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	399	-			82					Q7Z5I8	Nonsense_Mutation	SNP	ENST00000570137.2	37	c.244C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819058	0.50633	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.23	4.27	0.50696	.	0.259870	0.33235	N	0.005121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7971	0.57565	0.0:0.0:0.8366:0.1634	.	.	.	.	X	82	.	ENSP00000299564:R82X	R	-	1	2	CDYL2	79276308	1.000000	0.71417	0.231000	0.23993	0.080000	0.17528	2.062000	0.41413	1.407000	0.46875	0.655000	0.94253	CGA		0.522	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		75	338	0	0	0	1	0	75	338					A	80718807	G	A	80718807	4	1	79	1	0	0	0	0	0	1	0	0	3195	1066	37	1	1300	1	CDYL2	16	80718807	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	80718807	9635946	16517	26834											
ATMIN	23300	broad.mit.edu	37	chr16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggctctgccacaggggCtgtgcacttaatgcccttgt	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000299575.4	+	4	1043	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	340	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(550-552)gCt>gAt		ATM interactor							56	57	56					16																	81077122		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077122C>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1019C>A	16.37:g.81077122C>A	ENSP00000299575:p.Ala340Asp					ATMIN_ENST00000299575.4_Missense_Mutation_p.A340D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D	p.A184D			O43313	ATMIN_HUMAN			3	1514	+			340					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.551C>A	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821537	0.50633	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02974	4.09	5.93	5.93	0.95920	.	0.210337	0.49916	D	0.000122	T	0.07188	0.0182	M	0.65975	2.015	0.39799	D	0.972549	P	0.50272	0.933	B	0.41860	0.368	T	0.03231	-1.1058	10	0.87932	D	0	-14.4784	20.3539	0.98825	0.0:1.0:0.0:0.0	.	340	O43313	ATMIN_HUMAN	D	340;111	ENSP00000299575:A340D	ENSP00000299575:A340D	A	+	2	0	ATMIN	79634623	1.000000	0.71417	0.353000	0.25747	0.064000	0.16182	7.262000	0.78410	2.826000	0.97356	0.655000	0.94253	GCT		0.522	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		132	388	1	0	3.21211e-60	1	4.03831e-60	132	388					A	81077122	C	A	81077122	3	1	79	1	0	0	0	0	1	0	0	0	1111	797	28	3	1033	3	ATMIN	16	81077122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358315	81077122	9277631	16518	26835											
ATMIN	23300	broad.mit.edu	37	chr16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattttgatatcgaagagttCttttcggcctcaaatatcca	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000299575.4	+	4	1947	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	641					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1453-1455)ttC>ttA		ATM interactor							46	49	48					16																	81078026		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078026C>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1923C>A	16.37:g.81078026C>A	ENSP00000299575:p.Phe641Leu					ATMIN_ENST00000299575.4_Missense_Mutation_p.F641L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L	p.F485L			O43313	ATMIN_HUMAN			3	2418	+			641					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1455C>A	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508707	0.44660	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39229	1.09	6.17	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.37630	1.12	0.49051	D	0.999743	D	0.76494	0.999	D	0.80764	0.994	T	0.47873	-0.9083	10	0.87932	D	0	-26.8835	10.0453	0.42184	0.0:0.6098:0.0:0.3902	.	641	O43313	ATMIN_HUMAN	L	641;412	ENSP00000299575:F641L	ENSP00000299575:F641L	F	+	3	2	ATMIN	79635527	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.136000	0.31467	0.430000	0.26230	0.655000	0.94253	TTC		0.493	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		65	328	1	0	3.40165e-17	1	3.75177e-17	65	328					A	81078026	C	A	81078026	3	1	79	1	0	0	0	0	1	0	0	0	1111	912	32	3	1937	3	ATMIN	16	81078026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	81078026	9276727	16519	26836											
C16orf46	123775	broad.mit.edu	37	chr16	81097352	81097352	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagaaagatactcactGcctcttcccatccagttcca	5	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000299578.5	-	3	444	c.209C>T	c.(208-210)gCa>gTa	p.A70V	C16orf46_ENST00000378611.4_Splice_Site_p.A70V|C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.e2+1		chromosome 16 open reading frame 46							144	135	138					16																	81097352		2202	4300	6502	SO:0001630	splice_region_variant	123775							g.chr16:81097352G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.210+1C>T	16.37:g.81097352G>A						RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Splice_Site_p.A70_splice	p.A70_splice	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			2	324	-			70					Q96MA7	Splice_Site	SNP	ENST00000299578.5	37	c.210_splice	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724517	0.68959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.27890	1.64;1.64	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.47655	0.1457	L	0.36672	1.1	0.45403	D	0.998388	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	16.9976	0.86372	0.0:0.0:1.0:0.0	.	70;70	Q6P387-2;Q6P387	.;CP046_HUMAN	V	70	ENSP00000367874:A70V;ENSP00000299578:A70V	ENSP00000299578:A70V	A	-	2	0	C16orf46	79654853	1.000000	0.71417	0.999000	0.59377	0.234000	0.25298	5.178000	0.65037	2.822000	0.97130	0.563000	0.77884	GCA		0.368	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	Missense_Mutation	109	308	0	0	0	1	0	109	308					A	81097352	G	A	81097352	5	1	79	1	0	0	0	0	0	0	1	0	1820	1333	46	2	1014	2	C16orf46	16	81097352	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19326	81097352	9257401	16520	26837											
PKD1L2	114780	broad.mit.edu	37	chr16	81164153	81164153	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacctgaaaagcccctgGtgaagctgtgctggaggtgt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000534142.1	-	0	342				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAGCCCCTGGTGAAGCTGTG	0.592																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							44	50	48					16																	81164153		2000	4171	6171			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81164153G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81164153G>A						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	5953	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.592	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			12	65	0	0	0	1	0	12	65					A	81164153	G	A	81164153	1	1	79	0	1	0	0	0	0	0	0	0	12007	1261	44	2		2	PKD1L2	16	81164153	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66801	81164153	9190600	16521	26838											
PKD1L2	114780	broad.mit.edu	37	chr16	81181859	81181859	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttcgcgacccggggAcgggtgttctgaaagatctg	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000525539.1	-	0	4856				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGACCCGGGGACGGGTGTTCT	0.572																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							54	55	54					16																	81181859		1873	4111	5984			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181859A>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181859A>C						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4856	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.572	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			54	252	0	0	0	1	0	54	252					C	81181859	A	C	81181859	1	2	79	0	1	0	0	0	0	0	0	0	12007	262	10	4		4	PKD1L2	16	81181859	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17706	81181859	9172894	16522	26839											
PKD1L2	114780	broad.mit.edu	37	chr16	81183400	81183400	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggacaccctctggaCgcgggtgaagctgctgcgag	16	12	1	1	rs372988572	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000525539.1	-	0	4647				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V1550F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCTCTGGACGCGGGTGAAG	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18217	0.0		0.0	False		,,,				2504	0.001					ENST00000525539.1																			1	Substitution - Missense(1)	p.V1550F(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		C	ILE/VAL	3,3935		0,3,1966	41	43	42		4648	4.4	0.4	16		42	0,8306		0,0,4153	no	missense	PKD1L2	NM_052892.3	29	0,3,6119	TT,TC,CC		0.0,0.0762,0.0245	probably-damaging	1550/2460	81183400	3,12241	1969	4153	6122			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183400C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183400C>T						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4647	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			42	143	0	0	0	1	0	42	143					T	81183400	C	T	81183400	1	4	79	0	1	0	0	0	0	0	0	0	12007	536	19	1		1	PKD1L2	16	81183400	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	81183400	9171353	16523	26840											
PKD1L2	114780	broad.mit.edu	37	chr16	81198334	81198334	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcagagtctgcggcaTcagggcgcagggaggagcct	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000525539.1	-	0	3259				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTCTGCGGCATCAGGGCGCAG	0.597																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							53	62	59					16																	81198334		2168	4273	6441			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81198334T>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81198334T>G						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	3259	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.597	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			94	271	0	0	0	1	0	94	271					G	81198334	T	G	81198334	1	3	79	0	1	0	0	0	0	0	0	0	12007	1435	50	4		4	PKD1L2	16	81198334	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14934	81198334	9156419	16524	26841											
PKD1L2	114780	broad.mit.edu	37	chr16	81248637	81248637	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcctccttgacgttgGcccagctgcatccctgctcc	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000525539.1	-	0	625				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTGACGTTGGCCCAGCTGCA	0.627											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(625-627)gCc>gTc		polycystic kidney disease 1-like 2							16	20	19					16																	81248637		2034	4180	6214			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81248637G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248637G>A			OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1204	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.A209V			Q7Z442	PK1L2_HUMAN			3	625	-			209			SUEL-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004989	0.00431	.	.	ENSG00000166473	ENST00000337114	T	0.17691	2.26	4.77	-1.65	0.08291	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.791308	0.11216	N	0.587175	T	0.06280	0.0162	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	9	0.02654	T	1	-0.0759	10.4722	0.44644	0.5602:0.0:0.4398:0.0	.	209;209	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	209	ENSP00000337397:A209V	ENSP00000337397:A209V	A	-	2	0	PKD1L2	79806138	0.044000	0.20184	0.001000	0.08648	0.018000	0.09664	0.949000	0.29109	-0.709000	0.05008	-0.781000	0.03364	GCC		0.627	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			11	59	0	0	0	1	0	11	59					A	81248637	G	A	81248637	1	1	79	0	1	0	0	0	0	0	0	0	12007	1203	42	2		2	PKD1L2	16	81248637	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50303	81248637	9106116	16525	26842											
BCMO1	53630	broad.mit.edu	37	chr16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatatcttgcaggttgaTtatcgtaaatacgtggcggt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(475-477)gaT>gaG		beta-carotene 15,15'-monooxygenase 1							146	130	135					16																	81298250		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298250T>G																												ENST00000258168.2:c.477T>G	16.37:g.81298250T>G	ENSP00000258168:p.Asp159Glu					BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	p.D159E	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			5	938	+			159						Missense_Mutation	SNP	ENST00000258168.2	37	c.477T>G	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273056	0.59649	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95656	-3.77;-3.77	4.71	3.61	0.41365	.	0.365800	0.33834	N	0.004502	D	0.96790	0.8952	M	0.85197	2.74	0.42593	D	0.99325	D;D	0.63880	0.993;0.96	D;P	0.63283	0.913;0.856	D	0.95147	0.8269	10	0.39692	T	0.17	-14.6836	7.3337	0.26596	0.0:0.2278:0.0:0.7722	.	90;159	E7EM88;Q9HAY6	.;BCDO1_HUMAN	E	159;90	ENSP00000258168:D159E;ENSP00000400586:D90E	ENSP00000258168:D159E	D	+	3	2	BCMO1	79855751	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.050000	0.30404	0.761000	0.33130	0.449000	0.29647	GAT		0.398	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			157	424	0	0	0	1	0	157	424					G	81298250	T	G	81298250	3	3	79	1	0	0	0	0	1	0	0	0	1385	1490	52	4	495	4	BCMO1	16	81298250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49613	81298250	9056503	16526	26843											
BCMO1	53630	broad.mit.edu	37	chr16	81303878	81303878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaagaggacggctgcatcGtgtttgacgtcattgcctac	12	10	1	2	rs570126506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81303878G>A	ENST00000258168.2	+	7	1419	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	NM_017429.2	NP_059125.2												p.V320M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CGGCTGCATCGTGTTTGACGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18977	0.0		0.0	False		,,,				2504	0.001					ENST00000258168.2																			1	Substitution - Missense(1)	p.V320M(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(958-960)Gtg>Atg		beta-carotene 15,15'-monooxygenase 1							186	137	154					16																	81303878		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81303878G>A																												ENST00000258168.2:c.958G>A	16.37:g.81303878G>A	ENSP00000258168:p.Val320Met					BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	p.V320M	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			7	1419	+			320						Missense_Mutation	SNP	ENST00000258168.2	37	c.958G>A	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881124	0.33255	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.96232	-3.95;-3.95	5.62	-2.09	0.07232	.	0.432303	0.24076	N	0.041767	D	0.94571	0.8251	M	0.79343	2.45	0.37085	D	0.899185	D;P	0.63046	0.992;0.875	P;B	0.44897	0.463;0.344	D	0.92091	0.5680	10	0.62326	D	0.03	-4.5565	9.1771	0.37118	0.1574:0.1476:0.6236:0.0714	.	251;320	E7EM88;Q9HAY6	.;BCDO1_HUMAN	M	320;251	ENSP00000258168:V320M;ENSP00000400586:V251M	ENSP00000258168:V320M	V	+	1	0	BCMO1	79861379	0.000000	0.05858	0.198000	0.23420	0.306000	0.27790	-0.226000	0.09139	-0.197000	0.10350	-0.171000	0.13296	GTG		0.552	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			12	555	0	0	0	1	0	12	555					A	81303878	G	A	81303878	3	1	79	1	0	0	0	0	1	0	0	0	1385	1145	40	1	984	1	BCMO1	16	81303878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5628	81303878	9050875	16527	26844											
GAN	8139	broad.mit.edu	37	chr16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaagatgatggatcaActtataagattgaacttgaa	7	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(208-210)Act>Gct		gigaxonin							118	110	113					16																	81385228		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81385228A>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.208A>G	16.37:g.81385228A>G	ENSP00000476795:p.Thr70Ala						p.T70A	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			2	370	+		Colorectal(91;0.153)	70			BTB.			Missense_Mutation	SNP	ENST00000568107.2	37	c.208A>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239798	0.10023	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197356	0.53938	D	0.000046	T	0.46347	0.1388	N	0.04297	-0.235	0.37084	D	0.899104	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.29301	T	0.29	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	70	Q9H2C0	GAN_HUMAN	A	70	ENSP00000248272:T70A	ENSP00000248272:T70A	T	+	1	0	GAN	79942729	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.246000	0.74042	0.533000	0.62120	ACT		0.328	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			102	286	0	0	0	1	0	102	286					G	81385228	A	G	81385228	3	3	79	1	0	0	0	0	1	0	0	0	6260	43	2	4	214	4	GAN	16	81385228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81350	81385228	8969525	16528	26845											
GAN	8139	broad.mit.edu	37	chr16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacggaaacccacagcagCgatgcgatgcatgtgccctc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(871-873)gCg>gTg		gigaxonin							182	162	169					16																	81391435		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81391435C>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.872C>T	16.37:g.81391435C>T	ENSP00000476795:p.Ala291Val						p.A291V	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			5	1034	+		Colorectal(91;0.153)	291						Missense_Mutation	SNP	ENST00000568107.2	37	c.872C>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	GAN	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG		0.433	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			132	721	0	0	0	1	0	132	721					T	81391435	C	T	81391435	3	4	79	1	0	0	0	0	1	0	0	0	6260	768	27	1	890	1	GAN	16	81391435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6207	81391435	8963318	16529	26846											
GAN	8139	broad.mit.edu	37	chr16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatggtaacttgcaagTccgagttctaccatgatgag	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	492					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(1474-1476)Tcc>Ccc		gigaxonin							237	211	220					16																	81399055		2201	4300	6501	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81399055T>C	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1474T>C	16.37:g.81399055T>C	ENSP00000476795:p.Ser492Pro					GAN_ENST00000567335.1_3'UTR	p.S492P	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			9	1636	+		Colorectal(91;0.153)	492						Missense_Mutation	SNP	ENST00000568107.2	37	c.1474T>C	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117291	0.56505	.	.	ENSG00000127688	ENST00000248272	T	0.66099	-0.19	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	63.454200	0.00357	N	0.000027	T	0.73822	0.3636	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.57159	-0.7859	10	0.66056	D	0.02	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	492	Q9H2C0	GAN_HUMAN	P	492	ENSP00000248272:S492P	ENSP00000248272:S492P	S	+	1	0	GAN	79956556	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	7.749000	0.85096	2.291000	0.77112	0.533000	0.62120	TCC		0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			194	643	0	0	0	1	0	194	643					C	81399055	T	C	81399055	3	2	79	1	0	0	0	0	1	0	0	0	6260	1667	58	4	1508	4	GAN	16	81399055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7620	81399055	8955698	16530	26847											
CMIP	80790	broad.mit.edu	37	chr16	81685954	81685954	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccactggaaatcgtctcGaaactgctctcagaggtaaa	9	12	2	1	rs562434205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.S55S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	208						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18101	0.0		0.0	False		,,,				2504	0.001					ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(622-624)tcG>tcA		c-Maf inducing protein							63	66	65					16																	81685954		1913	4111	6024	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81685954G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.624G>A	16.37:g.81685954G>A						CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000566513.1_3'UTR	p.S208S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	696	+			174					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.624G>A	CCDS54044.1																																																																																				0.582	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		103	236	0	0	0	1	0	103	236					A	81685954	G	A	81685954	2	1	79	1	0	0	0	0	0	0	0	1	3587	1045	37	1		1	CMIP	16	81685954	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286899	81685954	8668799	16531	26848											
CMIP	80790	broad.mit.edu	37	chr16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccttgccttgaacgagCtcaacgcggggatggaagtg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTTGAACGAGCTCAACGCGGG	0.587																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(889-891)Ctc>Ttc		c-Maf inducing protein							60	64	63					16																	81703810		1996	4177	6173	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81703810C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.889C>T	16.37:g.81703810C>T	ENSP00000446100:p.Leu297Phe					CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000566513.1_3'UTR	p.L297F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			8	961	+			263					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.889C>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874812	0.72180	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.18964	0.0455	N	0.19112	0.55	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.75484	0.986;0.986;0.979	T	0.02654	-1.1128	10	0.62326	D	0.03	.	13.5913	0.61961	0.0:0.9228:0.0:0.0771	.	144;203;297	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	297;203;203;110	ENSP00000446100:L297F;ENSP00000440401:L203F	ENSP00000381120:L203F	L	+	1	0	CMIP	80261311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.522000	0.60539	2.298000	0.77334	0.467000	0.42956	CTC		0.587	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	65	0	0	0	1	0	12	65					T	81703810	C	T	81703810	3	4	79	1	0	0	0	0	1	0	0	0	3587	797	28	2	941	2	CMIP	16	81703810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17856	81703810	8650943	16532	26849											
CMIP	80790	broad.mit.edu	37	chr16	81739151	81739151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggaacacctcaccatgctCcaggtgctgaacctgtgcga	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L560L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	713						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2137-2139)ctC>ctT		c-Maf inducing protein							46	50	49					16																	81739151		2027	4170	6197	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81739151C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2139C>T	16.37:g.81739151C>T						CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000566513.1_3'UTR	p.L713L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			19	2211	+			679					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.2139C>T	CCDS54044.1																																																																																				0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		24	81	0	0	0	1	0	24	81					T	81739151	C	T	81739151	2	4	79	1	0	0	0	0	0	0	0	1	3587	842	30	2		2	CMIP	16	81739151	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35341	81739151	8615602	16533	26850											
PLCG2	5336	broad.mit.edu	37	chr16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagggggagctgtacaTgtgggattccattgaccagg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	483					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGCTGTACATGTGGGATTCC	0.587																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1447-1449)aTg>aCg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67	73	71					16																	81939093		2050	4192	6242	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81939093T>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1448T>C	16.37:g.81939093T>C	ENSP00000352336:p.Met483Thr						p.M483T	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			15	1662	+			483					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1448T>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703665	0.48412	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.18	5.18	0.71444	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.043429	0.85682	D	0.000000	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.48764	0.017;0.915	B;B	0.33750	0.008;0.169	T	0.63594	-0.6602	10	0.72032	D	0.01	.	15.0501	0.71862	0.0:0.0:0.0:1.0	.	350;483	B4E3H3;P16885	.;PLCG2_HUMAN	T	483	ENSP00000352336:M483T	ENSP00000352336:M483T	M	+	2	0	PLCG2	80496594	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.010000	0.64004	1.964000	0.57103	0.445000	0.29226	ATG		0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			56	131	0	0	0	1	0	56	131					C	81939093	T	C	81939093	3	2	79	1	0	0	0	0	1	0	0	0	12078	1464	51	4	1502	4	PLCG2	16	81939093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199942	81939093	8415660	16534	26851											
PLCG2	5336	broad.mit.edu	37	chr16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaaggatggcaccttcCtggttcgggagagcgagacc	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	562	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGCACCTTCCTGGTTCGGGA	0.572																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1684-1686)Ctg>Atg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							71	79	76					16																	81942147		2035	4178	6213	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942147C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1684C>A	16.37:g.81942147C>A	ENSP00000352336:p.Leu562Met						p.L562M	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			17	1898	+			562			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1684C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245294	0.59103	.	.	ENSG00000197943	ENST00000359376	T	0.60672	0.17	4.72	-2.06	0.07298	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.081372	0.49916	D	0.000134	T	0.69024	0.3065	M	0.83692	2.655	0.54753	D	0.999986	D;P	0.59357	0.985;0.771	P;P	0.58928	0.848;0.714	T	0.71094	-0.4692	10	0.49607	T	0.09	.	11.9618	0.53013	0.0:0.5831:0.0:0.4169	.	429;562	B4E3H3;P16885	.;PLCG2_HUMAN	M	562	ENSP00000352336:L562M	ENSP00000352336:L562M	L	+	1	2	PLCG2	80499648	0.191000	0.23288	0.991000	0.47740	0.938000	0.57974	-0.480000	0.06559	-0.368000	0.08040	-0.251000	0.11542	CTG		0.572	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			37	157	1	0	6.2361e-21	1	7.00342e-21	37	157					A	81942147	C	A	81942147	3	1	79	1	0	0	0	0	1	0	0	0	12078	680	24	3	1746	3	PLCG2	16	81942147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3054	81942147	8412606	16535	26852											
PLCG2	5336	broad.mit.edu	37	chr16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaaccccaacccccacGagtccaagccgtacgtgtct	7	19	1	0	rs367884906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	642					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACCCCCACGAGTCCAAGCC	0.667																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1924-1926)Gag>Aag		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	LYS/GLU	1,4155		0,1,2077	83	92	89		1924	5	1	16		89	0,8422		0,0,4211	no	missense	PLCG2	NM_002661.3	56	0,1,6288	AA,AG,GG		0.0,0.0241,0.0080	possibly-damaging	642/1266	81944315	1,12577	2078	4211	6289	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944315G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1924G>A	16.37:g.81944315G>A	ENSP00000352336:p.Glu642Lys						p.E642K	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2138	+			642					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1924G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450329	0.63290	2.41E-4	0.0	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (1);	0.194915	0.45867	D	0.000333	D	0.93383	0.7890	L	0.59436	1.845	0.43863	D	0.996463	D;P	0.64830	0.994;0.888	P;B	0.51487	0.671;0.073	D	0.93177	0.6571	10	0.49607	T	0.09	.	13.2269	0.59919	0.0:0.0:0.841:0.159	.	509;642	B4E3H3;P16885	.;PLCG2_HUMAN	K	642	ENSP00000352336:E642K	ENSP00000352336:E642K	E	+	1	0	PLCG2	80501816	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.682000	0.61671	2.320000	0.78422	0.491000	0.48974	GAG		0.667	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			219	1008	0	0	0	1	0	219	1008					A	81944315	G	A	81944315	3	1	79	1	0	0	0	0	1	0	0	0	12078	1059	37	1	1990	1	PLCG2	16	81944315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2168	81944315	8410438	16536	26853											
PLCG2	5336	broad.mit.edu	37	chr16	81969845	81969845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatcagacagaagcccGtcgacctcctgaagtacaat	8	13	2	3	rs369090249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81969845G>A	ENST00000359376.3	+	27	3128	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	972	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACAGAAGCCCGTCGACCTCCT	0.517																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2914-2916)Gtc>Atc		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	ILE/VAL	0,3902		0,0,1951	75	78	77		2914	-2.5	0	16		77	1,8307		0,1,4153	no	missense	PLCG2	NM_002661.3	29	0,1,6104	AA,AG,GG		0.012,0.0,0.0082	benign	972/1266	81969845	1,12209	1951	4154	6105	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81969845G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2914G>A	16.37:g.81969845G>A	ENSP00000352336:p.Val972Ile						p.V972I	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			27	3128	+			972			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2914G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253447	0.10185	0.0	1.2E-4	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	4.79	-2.47	0.06442	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.908362	0.09494	N	0.794498	T	0.39886	0.1095	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.37606	T	0.19	.	8.6391	0.33966	0.276:0.2342:0.4898:0.0	.	972	P16885	PLCG2_HUMAN	I	972	ENSP00000352336:V972I	ENSP00000352336:V972I	V	+	1	0	PLCG2	80527346	0.000000	0.05858	0.014000	0.15608	0.122000	0.20287	0.091000	0.15046	-0.838000	0.04218	-0.311000	0.09066	GTC		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			9	299	0	0	0	1	0	9	299					A	81969845	G	A	81969845	3	1	79	1	0	0	0	0	1	0	0	0	12078	1145	40	1	3016	1	PLCG2	16	81969845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25530	81969845	8384908	16537	26854											
PLCG2	5336	broad.mit.edu	37	chr16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaacaagttcaagacgaCggttgtgagtaagtcagtca	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1102	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAGACGACGGTTGTGAGT	0.512																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3304-3306)aCg>aTg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							113	108	110					16																	81972512		1955	4160	6115	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81972512C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3305C>T	16.37:g.81972512C>T	ENSP00000352336:p.Thr1102Met						p.T1102M	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			29	3519	+			1102			C2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3305C>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282341	0.23392	.	.	ENSG00000197943	ENST00000359376	T	0.69806	-0.43	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309400	0.38959	N	0.001501	T	0.63522	0.2518	M	0.75447	2.3	0.09310	N	0.999994	P	0.34934	0.476	B	0.27887	0.084	T	0.64795	-0.6323	10	0.59425	D	0.04	.	12.4855	0.55871	0.0:0.9236:0.0:0.0764	.	1102	P16885	PLCG2_HUMAN	M	1102	ENSP00000352336:T1102M	ENSP00000352336:T1102M	T	+	2	0	PLCG2	80530013	0.233000	0.23772	0.582000	0.28627	0.660000	0.38997	1.732000	0.38146	2.517000	0.84864	0.561000	0.74099	ACG		0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			18	86	0	0	0	1	0	18	86					T	81972512	C	T	81972512	3	4	79	1	0	0	0	0	1	0	0	0	12078	536	19	1	3415	1	PLCG2	16	81972512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2667	81972512	8382241	16538	26855											
PLCG2	5336	broad.mit.edu	37	chr16	81979814	81979814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaagaatgggtacagCgaggacatagagctggcttc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1172					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGGGTACAGCGAGGACATAG	0.488																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3514-3516)agC>agT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							164	162	163					16																	81979814		1968	4160	6128	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81979814C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3516C>T	16.37:g.81979814C>T							p.S1172S	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			31	3730	+			1172					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3516C>T	CCDS42204.1																																																																																				0.488	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			162	490	0	0	0	1	0	162	490					T	81979814	C	T	81979814	2	4	79	1	0	0	0	0	0	0	0	1	12078	767	27	1		1	PLCG2	16	81979814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7302	81979814	8374939	16539	26856											
HSD17B2	3294	broad.mit.edu	37	chr16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctggcaggcctctgtgCagtctgcctgctcatcctgt	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	46					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GGCCTCTGTGCAGTCTGCCTG	0.512																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(136-138)gCa>gTa		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						123	86	99					16																	82069166		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82069166C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.137C>T	16.37:g.82069166C>T	ENSP00000199936:p.Ala46Val						p.A46V	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			1	330	+			46					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.137C>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698495	0.30142	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.31	0.988	0.19796	.	0.700950	0.12992	N	0.422406	T	0.67841	0.2936	N	0.22421	0.69	0.22240	N	0.999265	P	0.38335	0.627	B	0.35114	0.196	T	0.54180	-0.8332	10	0.23891	T	0.37	.	8.7751	0.34756	0.0891:0.5215:0.3895:0.0	.	46	P37059	DHB2_HUMAN	V	46	ENSP00000199936:A46V	ENSP00000199936:A46V	A	+	2	0	HSD17B2	80626667	0.997000	0.39634	0.982000	0.44146	0.169000	0.22640	0.538000	0.23160	0.291000	0.22468	-0.340000	0.08031	GCA		0.512	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		24	258	0	0	0	1	0	24	258					T	82069166	C	T	82069166	3	4	79	1	0	0	0	0	1	0	0	0	7414	710	25	2	139	2	HSD17B2	16	82069166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	82069166	8285587	16540	26857											
HSD17B2	3294	broad.mit.edu	37	chr16	82131894	82131894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttttgcctattacacGccagggaaaggcgcttactt	9	12	0	0	rs372570633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	339					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CCTATTACACGCCAGGGAAAG	0.483																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1015-1017)acG>acA		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)	G		0,4402		0,0,2201	163	142	149		1017	-11.1	0	16		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSD17B2	NM_002153.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		339/388	82131894	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131894G>A		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1017G>A	16.37:g.82131894G>A						RP11-510J16.5_ENST00000567021.1_RNA	p.T339T	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1210	+			339					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.1017G>A	CCDS10936.1																																																																																				0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		98	483	0	0	0	1	0	98	483					A	82131894	G	A	82131894	2	1	79	1	0	0	0	0	0	0	0	1	7414	1074	38	1		1	HSD17B2	16	82131894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62728	82131894	8222859	16541	26858											
CDH13	1012	broad.mit.edu	37	chr16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctacatcggccacgtcatgGaagggtcacccacaggtatg	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000566620.1	+	6	1056	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	256	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACGTCATGGAAGGGTCACC	0.507																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(766-768)Gaa>Taa		cadherin 13							106	106	106					16																	83378596		1980	4159	6139	SO:0001587	stop_gained	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83378596G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.766G>T	16.37:g.83378596G>T	ENSP00000454435:p.Glu256*					CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*	p.E256*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	6	1056	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	256			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Nonsense_Mutation	SNP	ENST00000566620.1	37	c.766G>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	39	7.332772	0.98217	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8872	0.92383	0.0:0.0:1.0:0.0	.	.	.	.	X	303;256;217	.	ENSP00000268613:E303X	E	+	1	0	CDH13	81936097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.822000	0.86651	2.882000	0.98803	0.655000	0.94253	GAA		0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		17	471	1	0	1.00905e-13	1	1.09121e-13	17	471					T	83378596	G	T	83378596	4	4	79	1	0	0	0	0	0	1	0	0	3108	1175	41	3	788	3	CDH13	16	83378596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246702	83378596	6976157	16542	26859											
CDH13	1012	broad.mit.edu	37	chr16	83704532	83704532	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggcagagctttgaaatCcacaccaaccctcaaaccaa	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000566620.1	+	9	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CDH13_ENST00000428848.3_Silent_p.I374I|CDH13_ENST00000268613.10_Silent_p.I460I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	413	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1237-1239)atC>atT		cadherin 13							146	145	145					16																	83704532		1957	4143	6100	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704532C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1239C>T	16.37:g.83704532C>T						CDH13_ENST00000428848.3_Silent_p.I374I|CDH13_ENST00000268613.10_Silent_p.I460I	p.I413I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1529	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	413			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1239C>T	CCDS58486.1																																																																																				0.517	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		57	674	0	0	0	1	0	57	674					T	83704532	C	T	83704532	2	4	79	1	0	0	0	0	0	0	0	1	3108	845	30	2		2	CDH13	16	83704532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325936	83704532	6650221	16543	26860											
OSGIN1	29948	broad.mit.edu	37	chr16	83992884	83992884	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtaacggcccctctggtatCtgcctgtcctacctgctctc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	112					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)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(334-336)atC>atA		oxidative stress induced growth inhibitor 1							144	123	130					16																	83992884		2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83992884C>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.336C>A	16.37:g.83992884C>A						OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I	p.I112I			Q9UJX0	OSGI1_HUMAN			4	719	+			112					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.336C>A																																																																																					0.622	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		18	530	1	0	1.01871e-10	1	1.082e-10	18	530					A	83992884	C	A	83992884	2	1	79	1	0	0	0	0	0	0	0	1	11331	903	32	3		3	OSGIN1	16	83992884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288352	83992884	6361869	16544	26861											
OSGIN1	29948	broad.mit.edu	37	chr16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccggacctggaggTcaaggactggatgcagaaga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	237					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)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(709-711)gTc>gGc		oxidative stress induced growth inhibitor 1							67	68	68					16																	83994650		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994650T>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.710T>G	16.37:g.83994650T>G	ENSP00000343376:p.Val237Gly					OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G	p.V237G			Q9UJX0	OSGI1_HUMAN			6	1093	+			237					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.710T>G		.	.	.	.	.	.	.	.	.	.	T	13.76	2.333273	0.41297	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21191	2.02;2.02;2.02	4.53	4.53	0.55603	.	0.201058	0.43110	N	0.000609	T	0.19565	0.0470	L	0.40543	1.245	0.54753	D	0.999985	B	0.12630	0.006	B	0.14578	0.011	T	0.03514	-1.1029	10	0.87932	D	0	-14.9239	13.0035	0.58690	0.0:0.0:0.0:1.0	.	237	Q9UJX0	OSGI1_HUMAN	G	237;154;154	ENSP00000343376:V237G;ENSP00000355374:V154G;ENSP00000376983:V154G	ENSP00000343376:V237G	V	+	2	0	OSGIN1	82552151	0.717000	0.27966	1.000000	0.80357	0.622000	0.37654	4.020000	0.57189	1.662000	0.50781	0.402000	0.26972	GTC		0.612	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		69	326	0	0	0	1	0	69	326					G	83994650	T	G	83994650	3	3	79	1	0	0	0	0	1	0	0	0	11331	1667	58	4	732	4	OSGIN1	16	83994650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1766	83994650	6360103	16545	26862											
OSGIN1	29948	broad.mit.edu	37	chr16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgccaggccgtgttccagGacctcgagggtgtcgagaag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	462					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)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1384-1386)Gac>Aac		oxidative stress induced growth inhibitor 1							118	106	110					16																	83999313		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999313G>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.1384G>A	16.37:g.83999313G>A	ENSP00000343376:p.Asp462Asn					OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N	p.D462N			Q9UJX0	OSGI1_HUMAN			7	1767	+			462					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1384G>A		.	.	.	.	.	.	.	.	.	.	G	8.718	0.913690	0.17907	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.33216	1.42;1.42;1.42	4.66	4.66	0.58398	.	0.252505	0.41500	D	0.000867	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36553	-0.9743	10	0.22706	T	0.39	-48.3103	16.5398	0.84382	0.0:0.0:1.0:0.0	.	462	Q9UJX0	OSGI1_HUMAN	N	462;379;379	ENSP00000343376:D462N;ENSP00000355374:D379N;ENSP00000376983:D379N	ENSP00000343376:D462N	D	+	1	0	OSGIN1	82556814	0.995000	0.38212	0.596000	0.28811	0.226000	0.24999	4.166000	0.58203	2.140000	0.66376	0.313000	0.20887	GAC		0.647	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		89	350	0	0	0	1	0	89	350					A	83999313	G	A	83999313	3	1	79	1	0	0	0	0	1	0	0	0	11331	1174	41	2	1410	2	OSGIN1	16	83999313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4663	83999313	6355440	16546	26863											
SLC38A8	146167	broad.mit.edu	37	chr16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgatgcctccgatgatgCtgacgatctcgctgaggtca	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	373					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1117-1119)aGc>aAc		solute carrier family 38, member 8							91	76	81					16																	84050168		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050168C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1118G>A	16.37:g.84050168C>T	ENSP00000299709:p.Ser373Asn						p.S373N	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			8	1117	-			373						Missense_Mutation	SNP	ENST00000299709.3	37	c.1118G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522115	0.13066	.	.	ENSG00000166558	ENST00000299709	T	0.02890	4.12	4.47	2.35	0.29111	.	0.922945	0.09335	N	0.816306	T	0.04092	0.0114	M	0.62723	1.935	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.33137	-0.9880	10	0.48119	T	0.1	.	4.7346	0.12982	0.1527:0.6074:0.149:0.0909	.	373	A6NNN8	S38A8_HUMAN	N	373	ENSP00000299709:S373N	ENSP00000299709:S373N	S	-	2	0	SLC38A8	82607669	0.002000	0.14202	0.300000	0.25030	0.020000	0.10135	0.893000	0.28336	2.038000	0.60285	0.478000	0.44815	AGC		0.587	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		51	265	0	0	0	1	0	51	265					T	84050168	C	T	84050168	3	4	79	1	0	0	0	0	1	0	0	0	14660	797	28	2	201	2	SLC38A8	16	84050168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50855	84050168	6304585	16547	26864											
SLC38A8	146167	broad.mit.edu	37	chr16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaggacagcacagacaCcagggcccagtgggagaggc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	253					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCACAGACACCAGGGCCCAG	0.607																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(757-759)Gtg>Atg		solute carrier family 38, member 8							84	68	74					16																	84056428		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056428C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.757G>A	16.37:g.84056428C>T	ENSP00000299709:p.Val253Met						p.V253M	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	756	-			253						Missense_Mutation	SNP	ENST00000299709.3	37	c.757G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141028	0.37825	.	.	ENSG00000166558	ENST00000299709	T	0.02682	4.2	5.37	3.36	0.38483	.	0.187239	0.46758	D	0.000261	T	0.14570	0.0352	M	0.80746	2.51	0.48571	D	0.999673	D	0.67145	0.996	D	0.67231	0.95	T	0.00553	-1.1674	10	0.72032	D	0.01	.	14.7349	0.69409	0.0:0.7244:0.2756:0.0	.	253	A6NNN8	S38A8_HUMAN	M	253	ENSP00000299709:V253M	ENSP00000299709:V253M	V	-	1	0	SLC38A8	82613929	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	1.445000	0.35079	0.602000	0.29896	-0.326000	0.08463	GTG		0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		19	196	0	0	0	1	0	19	196					T	84056428	C	T	84056428	3	4	79	1	0	0	0	0	1	0	0	0	14660	507	18	2	570	2	SLC38A8	16	84056428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6260	84056428	6298325	16548	26865											
SLC38A8	146167	broad.mit.edu	37	chr16	84056464	84056464	+	Missense_Mutation	SNP	T	T	C													gaggctccgtttgcgcatgcTgcagtagatggagacggcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056464T>C	ENST00000299709.3	-	6	720	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	241					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCGCATGCTGCAGTAGATG	0.582																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(721-723)Agc>Ggc		solute carrier family 38, member 8							75	58	63					16																	84056464		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056464T>C		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.721A>G	16.37:g.84056464T>C	ENSP00000299709:p.Ser241Gly						p.S241G	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	720	-			241						Missense_Mutation	SNP	ENST00000299709.3	37	c.721A>G	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523176	0.44866	.	.	ENSG00000166558	ENST00000299709	T	0.02606	4.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.83603	2.65	0.58432	D	0.999992	D	0.76494	0.999	D	0.70487	0.969	T	0.00373	-1.1781	10	0.51188	T	0.08	.	14.3515	0.66705	0.0:0.0:0.0:1.0	.	241	A6NNN8	S38A8_HUMAN	G	241	ENSP00000299709:S241G	ENSP00000299709:S241G	S	-	1	0	SLC38A8	82613965	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.278000	0.78587	2.029000	0.59856	0.448000	0.29417	AGC		0.582	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		6	160	0	0	0	1	0	6	160					C	84056464	T	C	84056464	3	2	79	1	0	0	0	0	1	0	0	0	14660	1580	55	4	606	4	SLC38A8	16	84056464	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36	84056464	6298289	16549	26866	169	3									
SLC38A8	146167	broad.mit.edu	37	chr16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C													tttgcgcatgctgcagtagaTggagacggcagcttcgtgac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	238					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(712-714)Atc>Gtc		solute carrier family 38, member 8							72	55	61					16																	84056473		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056473T>C		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.712A>G	16.37:g.84056473T>C	ENSP00000299709:p.Ile238Val						p.I238V	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	711	-			238						Missense_Mutation	SNP	ENST00000299709.3	37	c.712A>G	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442334	0.01089	.	.	ENSG00000166558	ENST00000299709	T	0.03860	3.78	5.37	1.73	0.24493	.	0.174225	0.49916	N	0.000124	T	0.02929	0.0087	N	0.17838	0.53	0.47737	D	0.999505	B	0.27013	0.166	B	0.28465	0.09	T	0.50996	-0.8761	10	0.12103	T	0.63	.	7.7735	0.29023	0.0:0.2919:0.0:0.7081	.	238	A6NNN8	S38A8_HUMAN	V	238	ENSP00000299709:I238V	ENSP00000299709:I238V	I	-	1	0	SLC38A8	82613974	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.236000	0.32683	0.305000	0.22832	-0.384000	0.06662	ATC		0.567	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		16	151	0	0	0	1	0	16	151					C	84056473	T	C	84056473	3	2	79	1	0	0	0	0	1	0	0	0	14660	1464	51	4	615	4	SLC38A8	16	84056473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	84056473	6298280	16550	26867	169	3									
SLC38A8	146167	broad.mit.edu	37	chr16	84056480	84056480	+	Silent	SNP	G	G	A													atgctgcagtagatggagacGgcagcttcgtgacactgtaa					rs146922664	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	235					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572													G|||	5	0.000998403	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0051					ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(703-705)gcC>gcT		solute carrier family 38, member 8		G		1,4399	2.1+/-5.4	0,1,2199	68	52	58		705	-10.6	0	16	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		235/436	84056480	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056480G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.705C>T	16.37:g.84056480G>A							p.A235A	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	704	-			235						Silent	SNP	ENST00000299709.3	37	c.705C>T	CCDS32495.1																																																																																				0.572	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		18	146	0	0	0	1	0	18	146					A	84056480	G	A	84056480	2	1	79	1	0	0	0	0	0	0	0	1	14660	1103	39	1		1	SLC38A8	16	84056480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	84056480	6298273	16551	26868	169	3									
MBTPS1	8720	broad.mit.edu	37	chr16	84104310	84104310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtagcccgaccaaggccaTaagaccgaggagtaggagaa	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1663-1665)ttA>ttG		membrane-bound transcription factor peptidase, site 1							106	94	98					16																	84104310		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104310T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1665A>G	16.37:g.84104310T>C							p.L555L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2160	-			555					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1665A>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	MBTPS1	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG		0.522	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		131	402	0	0	0	1	0	131	402					C	84104310	T	C	84104310	2	2	79	1	0	0	0	0	0	0	0	1	9402	1403	49	4		4	MBTPS1	16	84104310	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47830	84104310	6250443	16552	26869											
MBTPS1	8720	broad.mit.edu	37	chr16	84115363	84115363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgaccttgcctgtggCttgtagctgttgaggatctg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1435-1437)aaG>aaA		membrane-bound transcription factor peptidase, site 1							88	86	87					16																	84115363		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84115363C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1437G>A	16.37:g.84115363C>T						MBTPS1_ENST00000569770.1_5'UTR	p.K479K	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			11	1932	-			479					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1437G>A	CCDS10941.1																																																																																				0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		81	408	0	0	0	1	0	81	408					T	84115363	C	T	84115363	2	4	79	1	0	0	0	0	0	0	0	1	9402	796	28	2		2	MBTPS1	16	84115363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11053	84115363	6239390	16553	26870											
MBTPS1	8720	broad.mit.edu	37	chr16	84129262	84129262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgggcaacctggcgCgggatggctctcagcagccg	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84129262C>T	ENST00000343411.3	-	4	1065	c.570G>A	c.(568-570)ccG>ccA	p.P190P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAACCTGGCGCGGGATGGCTC	0.582																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(568-570)ccG>ccA		membrane-bound transcription factor peptidase, site 1							91	80	84					16																	84129262		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84129262C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.570G>A	16.37:g.84129262C>T							p.P190P	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			4	1065	-			190					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.570G>A	CCDS10941.1																																																																																				0.582	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		10	623	0	0	0	1	0	10	623					T	84129262	C	T	84129262	2	4	79	1	0	0	0	0	0	0	0	1	9402	755	27	1		1	MBTPS1	16	84129262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13899	84129262	6225491	16554	26871											
MBTPS1	8720	broad.mit.edu	37	chr16	84132743	84132743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagtgttagcagcccCgctttctgtttttcttttat	6	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(334-336)gcG>gcA		membrane-bound transcription factor peptidase, site 1							198	183	188					16																	84132743		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132743C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.336G>A	16.37:g.84132743C>T							p.A112A	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	831	-			112					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.336G>A	CCDS10941.1																																																																																				0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		119	570	0	0	0	1	0	119	570					T	84132743	C	T	84132743	2	4	79	1	0	0	0	0	0	0	0	1	9402	639	23	1		1	MBTPS1	16	84132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3481	84132743	6222010	16555	26872											
MBTPS1	8720	broad.mit.edu	37	chr16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggattgtttcgaggtataAttctccaattgtctacttca	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	87					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(259-261)aTt>aGt		membrane-bound transcription factor peptidase, site 1							155	140	145					16																	84132819		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132819A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.260T>G	16.37:g.84132819A>C	ENSP00000344223:p.Ile87Ser						p.I87S	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	755	-			87					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.260T>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537704	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.36520	1.25	5.82	5.82	0.92795	.	0.088634	0.85682	D	0.000000	T	0.58466	0.2124	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.63959	-0.6519	10	0.87932	D	0	-19.3983	16.1685	0.81786	1.0:0.0:0.0:0.0	.	87	Q14703	MBTP1_HUMAN	S	87	ENSP00000344223:I87S	ENSP00000344223:I87S	I	-	2	0	MBTPS1	82690320	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	8.870000	0.92336	2.225000	0.72522	0.528000	0.53228	ATT		0.378	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		122	555	0	0	0	1	0	122	555					C	84132819	A	C	84132819	3	2	79	1	0	0	0	0	1	0	0	0	9402	101	4	4	2982	4	MBTPS1	16	84132819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76	84132819	6221934	16556	26873											
LRRC50	123872	broad.mit.edu	37	chr16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccccagcattgaatgataCgctgtatttacactttaaag	6	9	0	2	rs375812500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84183927C>T	ENST00000378553.5	+	3	456	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	111			Missing (in CILD13). {ECO:0000269|PubMed:19944405}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(331-333)aCg>aTg		dynein, axonemal, assembly factor 1		C	MET/THR	0,4400		0,0,2200	82	78	79		332	3	0	16		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	81	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	111/726	84183927	1,12999	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84183927C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.332C>T	16.37:g.84183927C>T	ENSP00000367815:p.Thr111Met					DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			3	456	+			111		Missing (in CILD13).			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.332C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066267	0.36470	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37584	1.19;1.67	5.13	3.05	0.35203	.	0.124408	0.53938	D	0.000049	T	0.51126	0.1656	M	0.62154	1.92	0.25950	N	0.982762	D	0.76494	0.999	D	0.67103	0.949	T	0.37384	-0.9708	10	0.72032	D	0.01	-8.0059	9.2501	0.37549	0.1449:0.7794:0.0:0.0758	.	111	Q8NEP3	DAAF1_HUMAN	M	111	ENSP00000334593:T111M;ENSP00000367815:T111M	ENSP00000334593:T111M	T	+	2	0	DNAAF1	82741428	0.591000	0.26824	0.029000	0.17559	0.123000	0.20343	2.411000	0.44600	1.167000	0.42706	0.591000	0.81541	ACG		0.378	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		17	361	0	0	0	1	0	17	361					T	84183927	C	T	84183927	3	4	79	1	0	0	0	0	1	0	0	0	9047	536	19	1	342	1	LRRC50	16	84183927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51108	84183927	6170826	16557	26874											
LRRC50	123872	broad.mit.edu	37	chr16	84199527	84199527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcagcgggcagaggagagGaaaagacagagagagagtca	17	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84199527G>A	ENST00000378553.5	+	7	1126	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	DNAAF1_ENST00000334315.5_Silent_p.R334R|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	334					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGAGAGGAAAAGACAGA	0.532																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1000-1002)agG>agA		dynein, axonemal, assembly factor 1							160	147	151					16																	84199527		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199527G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1002G>A	16.37:g.84199527G>A						DNAAF1_ENST00000334315.5_Silent_p.R334R|DNAAF1_ENST00000563818.1_3'UTR	p.R334R	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			7	1126	+			334					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1002G>A	CCDS10943.2																																																																																				0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		178	615	0	0	0	1	0	178	615					A	84199527	G	A	84199527	2	1	79	1	0	0	0	0	0	0	0	1	9047	1165	41	2		2	LRRC50	16	84199527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15600	84199527	6155226	16558	26875											
TAF1C	9013	broad.mit.edu	37	chr16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccaggcgctcactgaGcttgtcctctaggcctgact	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	717					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(2149-2151)Ctc>Atc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							22	26	25					16																	84213008		2198	4294	6492	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213008G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2149C>A	16.37:g.84213008G>T	ENSP00000455265:p.Leu717Ile					TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I	p.L717I	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2331	-			717					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2149C>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440383	0.63067	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02709	4.19;4.19;4.19	5.14	3.97	0.46021	.	0.117523	0.33834	N	0.004508	T	0.11793	0.0287	M	0.72118	2.19	0.28389	N	0.919179	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.00520	-1.1692	10	0.87932	D	0	-37.0793	9.4541	0.38745	0.1147:0.0:0.8853:0.0	.	691;240;717;623	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	I	717;624;623;240	ENSP00000367802:L717I;ENSP00000437900:L624I;ENSP00000345305:L623I	ENSP00000345305:L623I	L	-	1	0	TAF1C	82770509	0.812000	0.29077	0.998000	0.56505	0.707000	0.40811	1.602000	0.36783	2.390000	0.81377	0.561000	0.74099	CTC		0.716	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		22	274	1	0	1.10923e-09	1	1.16946e-09	22	274					T	84213008	G	T	84213008	3	4	79	1	0	0	0	0	1	0	0	0	15573	971	34	3	464	3	TAF1C	16	84213008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13481	84213008	6141745	16559	26876											
TAF1C	9013	broad.mit.edu	37	chr16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A													cgcagtgaagtctgcccaacGccacgaagaggagtcccgga					rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	389					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652													G|||	5	0.000998403	0.0	0.0029	5008	,	,		16161	0.0		0.003	False		,,,				2504	0.0					ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1165-1167)Cgt>Tgt		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa		G	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	54	51	52		1165,886	4.6	1	16	dbSNP_134	52	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	TAF1C	NM_005679.3,NM_139353.2	180,180	0,12,6488	AA,AG,GG		0.1163,0.0455,0.0923	probably-damaging,probably-damaging	389/870,296/776	84215011	12,12988	2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215011G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1165C>T	16.37:g.84215011G>A	ENSP00000455265:p.Arg389Cys					TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C	p.R389C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1347	-			389					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1165C>T	CCDS32496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.88	3.498123	0.64186	4.55E-4	0.001163	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.03301	3.98;3.98;3.98	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.094549	0.41500	D	0.000877	T	0.15825	0.0381	M	0.72118	2.19	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.983	T	0.00090	-1.2087	10	0.66056	D	0.02	-23.8596	12.7086	0.57076	0.0:0.0:1.0:0.0	.	363;389;296	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	389;296;296	ENSP00000367802:R389C;ENSP00000437900:R296C;ENSP00000345305:R296C	ENSP00000345305:R296C	R	-	1	0	TAF1C	82772512	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.360000	0.80028	0.655000	0.94253	CGT		0.652	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		44	162	0	0	0	1	0	44	162					A	84215011	G	A	84215011	3	1	79	1	0	0	0	0	1	0	0	0	15573	1087	38	1	1464	1	TAF1C	16	84215011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2003	84215011	6139742	16560	26877	170	2									
TAF1C	9013	broad.mit.edu	37	chr16	84215021	84215021	+	Silent	SNP	G	G	T													tctgcccaacgccacgaagaGgagtcccggaacacgagggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000570117.1_Silent_p.S53S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	385					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1153-1155)tcC>tcA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							56	52	53					16																	84215021		2200	4300	6500	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215021G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1155C>A	16.37:g.84215021G>T						TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000570117.1_Silent_p.S53S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S	p.S385S	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1337	-			385					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1155C>A	CCDS32496.1																																																																																				0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		36	171	1	0	7.04047e-22	1	7.94894e-22	36	171					T	84215021	G	T	84215021	2	4	79	1	0	0	0	0	0	0	0	1	15573	987	35	3		3	TAF1C	16	84215021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	84215021	6139732	16561	26878	170	2									
KCNG4	93107	broad.mit.edu	37	chr16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaataggaggcggggaTgctggtgaactccagcaccc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	405					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGCGGGGATGCTGGTGAAC	0.647																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1213-1215)Atc>Gtc		potassium voltage-gated channel, subfamily G, member 4							28	27	27					16																	84256170		2199	4299	6498	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256170T>C	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1213A>G	16.37:g.84256170T>C	ENSP00000312129:p.Ile405Val						p.I405V	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1281	-			405					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1213A>G	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683031	0.47991	.	.	ENSG00000168418	ENST00000308251	D	0.98455	-4.94	5.61	5.61	0.85477	Ion transport (1);	0.046703	0.85682	D	0.000000	D	0.96614	0.8895	L	0.55743	1.74	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	D	0.95789	0.8823	10	0.66056	D	0.02	.	9.4757	0.38869	0.0:0.0783:0.0:0.9217	.	405	Q8TDN1	KCNG4_HUMAN	V	405	ENSP00000312129:I405V	ENSP00000312129:I405V	I	-	1	0	KCNG4	82813671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.232000	0.58645	2.127000	0.65507	0.533000	0.62120	ATC		0.647	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		24	274	0	0	0	1	0	24	274					C	84256170	T	C	84256170	3	2	79	1	0	0	0	0	1	0	0	0	8060	1464	51	4	348	4	KCNG4	16	84256170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41149	84256170	6098583	16562	26879											
KCNG4	93107	broad.mit.edu	37	chr16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagctcacgatcacccCgaaggcgctggggctcctgt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000308251.4	-	2	429	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000568181.1_Missense_Mutation_p.G121R	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(361-363)Ggg>Agg		potassium voltage-gated channel, subfamily G, member 4							50	53	52					16																	84270731		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270731C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.361G>A	16.37:g.84270731C>T	ENSP00000312129:p.Gly121Arg					KCNG4_ENST00000308251.4_Missense_Mutation_p.G121R	p.G121R			Q8TDN1	KCNG4_HUMAN			2	481	-			121					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.361G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159132	0.09236	.	.	ENSG00000168418	ENST00000308251	T	0.74842	-0.88	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.158983	0.56097	D	0.000038	T	0.40067	0.1102	N	0.01277	-0.915	0.38865	D	0.956576	B;P	0.35011	0.008;0.48	B;B	0.26614	0.017;0.071	T	0.43147	-0.9409	10	0.25751	T	0.34	.	8.9585	0.35832	0.0:0.8319:0.0:0.1681	.	121;121	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	R	121	ENSP00000312129:G121R	ENSP00000312129:G121R	G	-	1	0	KCNG4	82828232	0.233000	0.23772	0.820000	0.32676	0.953000	0.61014	0.089000	0.15002	1.144000	0.42321	0.549000	0.68633	GGG		0.622	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		45	310	0	0	0	1	0	45	310					T	84270731	C	T	84270731	3	4	79	1	0	0	0	0	1	0	0	0	8060	652	23	1	1204	1	KCNG4	16	84270731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14561	84270731	6084022	16563	26880											
WFDC1	58189	broad.mit.edu	37	chr16	84353101	84353101	+	Silent	SNP	C	C	T													tgtccctcgggctatgagtgCcacatcctgagcccaggtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	162					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(484-486)tgC>tgT		WAP four-disulfide core domain 1							84	65	72					16																	84353101		2200	4300	6500	SO:0001819	synonymous_variant	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353101C>T	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.486C>T	16.37:g.84353101C>T						WFDC1_ENST00000568638.1_Silent_p.C162C	p.C162C			Q9HC57	WFDC1_HUMAN			4	812	+			162					D3DUL7|Q8NC27|Q9HAU1	Silent	SNP	ENST00000219454.5	37	c.486C>T	CCDS10946.1																																																																																				0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			96	247	0	0	0	1	0	96	247					T	84353101	C	T	84353101	2	4	79	1	0	0	0	0	0	0	0	1	17400	747	26	2		2	WFDC1	16	84353101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82370	84353101	6001652	16564	26881	171	2									
WFDC1	58189	broad.mit.edu	37	chr16	84353108	84353108	+	Silent	SNP	C	C	T													cgggctatgagtgccacatcCtgagcccaggtgacgtggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353108C>T	ENST00000219454.5	+	4	819	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WFDC1_ENST00000568638.1_Silent_p.L165L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	165					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGCCACATCCTGAGCCCAGG	0.667																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(493-495)Ctg>Ttg		WAP four-disulfide core domain 1							84	65	72					16																	84353108		2200	4300	6500	SO:0001819	synonymous_variant	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353108C>T	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.493C>T	16.37:g.84353108C>T						WFDC1_ENST00000568638.1_Silent_p.L165L	p.L165L			Q9HC57	WFDC1_HUMAN			4	819	+			165					D3DUL7|Q8NC27|Q9HAU1	Silent	SNP	ENST00000219454.5	37	c.493C>T	CCDS10946.1																																																																																				0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			42	308	0	0	0	1	0	42	308					T	84353108	C	T	84353108	2	4	79	1	0	0	0	0	0	0	0	1	17400	680	24	2		2	WFDC1	16	84353108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	84353108	6001645	16565	26882	171	2									
ATP2C2	9914	broad.mit.edu	37	chr16	84442094	84442094	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgaggacgccgtcagcatCgccacggtgagttccctgac	12	13	1	3	rs199924990		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000262429.4	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I137I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	137					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(409-411)atC>atT		ATPase, Ca++ transporting, type 2C, member 2							42	44	43					16																	84442094		2094	4226	6320	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84442094C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.411C>T	16.37:g.84442094C>T						ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I137I	p.I137I			O75185	AT2C2_HUMAN			4	500	+			137					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.411C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275063	0.05679	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.7	2.75	0.32379	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39313	-0.9620	7	0.87932	D	0	.	6.9582	0.24583	0.0:0.7117:0.0:0.2883	.	7	F8WAA5	.	L	7	.	ENSP00000393378:S7L	S	+	2	0	ATP2C2	82999595	0.464000	0.25807	0.948000	0.38648	0.075000	0.17131	0.355000	0.20163	0.431000	0.26258	-0.362000	0.07510	TCG		0.537	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		54	159	0	0	0	1	0	54	159					T	84442094	C	T	84442094	2	4	79	1	0	0	0	0	0	0	0	1	1145	874	31	1		1	ATP2C2	16	84442094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88986	84442094	5912659	16566	26883											
ATP2C2	9914	broad.mit.edu	37	chr16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttgtctcttccccaggtCtcatcatgctcattggctgg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000262429.4	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L308F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	308					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(922-924)Ctc>Ttc		ATPase, Ca++ transporting, type 2C, member 2							260	254	256					16																	84459343		2011	4184	6195	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84459343C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.922C>T	16.37:g.84459343C>T	ENSP00000262429:p.Leu308Phe					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L308F	p.L308F			O75185	AT2C2_HUMAN			11	1011	+			308					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.922C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933585	0.18206	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90324	-2.65;-2.65	5.0	-2.62	0.06152	ATPase, P-type, ATPase-associated domain (1);	1.503780	0.03710	N	0.250100	D	0.85283	0.5661	L	0.28115	0.83	0.38978	D	0.958882	B;B;B;B	0.21753	0.027;0.018;0.022;0.06	B;B;B;B	0.33750	0.12;0.043;0.073;0.169	T	0.70132	-0.4956	10	0.56958	D	0.05	.	5.7035	0.17895	0.0:0.1713:0.4723:0.3564	.	308;157;325;308	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	F	308;308;157	ENSP00000397925:L308F;ENSP00000262429:L308F	ENSP00000262429:L308F	L	+	1	0	ATP2C2	83016844	0.985000	0.35326	0.274000	0.24659	0.152000	0.21847	0.236000	0.17967	-0.250000	0.09555	-0.176000	0.13171	CTC		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		245	860	0	0	0	1	0	245	860					T	84459343	C	T	84459343	3	4	79	1	0	0	0	0	1	0	0	0	1145	913	32	2	964	2	ATP2C2	16	84459343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17249	84459343	5895410	16567	26884											
ATP2C2	9914	broad.mit.edu	37	chr16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcggctgacgtttctcggtCttgtgggcatcattgacccc	13	12	3	2	rs146513346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000262429.4	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L571I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1711-1713)Ctt>Att		ATPase, Ca++ transporting, type 2C, member 2							85	94	91					16																	84485577		1981	4158	6139	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84485577C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1711C>A	16.37:g.84485577C>A	ENSP00000262429:p.Leu571Ile					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L571I	p.L571I			O75185	AT2C2_HUMAN			18	1800	+			571					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1711C>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362537	0.41902	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74526	-0.85;-0.85	4.97	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000013	T	0.77994	0.4214	L	0.45422	1.42	0.49483	D	0.999795	P;B;B;B	0.34934	0.476;0.264;0.421;0.31	P;B;B;B	0.51777	0.679;0.175;0.396;0.268	T	0.77091	-0.2716	10	0.48119	T	0.1	.	12.4434	0.55637	0.0:0.9179:0.0:0.0821	.	571;420;588;571	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	I	571;571;420	ENSP00000397925:L571I;ENSP00000262429:L571I	ENSP00000262429:L571I	L	+	1	0	ATP2C2	83043078	0.998000	0.40836	0.070000	0.20053	0.025000	0.11179	3.669000	0.54561	1.094000	0.41399	0.491000	0.48974	CTT		0.627	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		80	841	1	0	7.81431e-29	1	9.11102e-29	80	841					A	84485577	C	A	84485577	3	1	79	1	0	0	0	0	1	0	0	0	1145	913	32	3	1781	3	ATP2C2	16	84485577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26234	84485577	5869176	16568	26885											
KIAA1609	57707	broad.mit.edu	37	chr16	84513633	84513633	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctcttgttgcccttggcCttgagaagagaagaaagggt	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84513633C>A	ENST00000343629.6	-	8	1440		c.e8-1		TLDC1_ENST00000535580.1_Splice_Site	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1							lysosomal membrane (GO:0005765)											TGCCCTTGGCCTTGAGAAGAG	0.597																																						ENST00000343629.6																			0											c.e8-1		TBC/LysM-associated domain containing 1							50	41	44					16																	84513633		2200	4300	6500	SO:0001630	splice_region_variant	57707							g.chr16:84513633C>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1258-1G>T	16.37:g.84513633C>A						TLDC1_ENST00000535580.1_Splice_Site		NM_020947.3	NP_065998.3					8	1440	-								Q8IZ64|Q9HCG3|Q9NTE8	Splice_Site	SNP	ENST00000343629.6	37		CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853256	0.71719	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	.	.	.	4.75	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9405	0.64052	0.1534:0.8466:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1609	83071134	0.998000	0.40836	0.484000	0.27391	0.649000	0.38597	4.493000	0.60341	1.260000	0.44134	0.655000	0.94253	.		0.597	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	Intron	36	115	1	0	1.04594e-18	1	1.16214e-18	36	115					A	84513633	C	A	84513633	5	1	79	1	0	0	0	0	0	0	1	0	8277	695	24	3	117	3	KIAA1609	16	84513633	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28056	84513633	5841120	16569	26886											
KIAA1609	57707	broad.mit.edu	37	chr16	84522931	84522931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagccagcacctgcaccCgggggttgggccctggggct	17	14	0	0	rs148973129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84522931C>T	ENST00000343629.6	-	4	664	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TLDC1_ENST00000535580.1_Missense_Mutation_p.R134Q|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	161						lysosomal membrane (GO:0005765)											CACCTGCACCCGGGGGTTGGG	0.602																																						ENST00000343629.6																			0											c.(481-483)cGg>cAg		TBC/LysM-associated domain containing 1		C	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	47	46	46		482	4.1	0	16	dbSNP_134	46	0,8600		0,0,4300	no	missense	KIAA1609	NM_020947.3	43	0,2,6498	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	161/457	84522931	2,12998	2200	4300	6500	SO:0001583	missense	57707							g.chr16:84522931C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.482G>A	16.37:g.84522931C>T	ENSP00000343635:p.Arg161Gln					TLDC1_ENST00000535580.1_Missense_Mutation_p.R134Q	p.R161Q	NM_020947.3	NP_065998.3					4	664	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.482G>A	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727535	0.48833	4.55E-4	0.0	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.09538	3.15;2.97	5.04	4.08	0.47627	.	0.325911	0.35207	N	0.003363	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	D;D	0.67145	0.965;0.996	B;P	0.47981	0.3;0.563	T	0.10965	-1.0607	10	0.27082	T	0.32	-11.5717	14.6301	0.68650	0.0:0.8536:0.1464:0.0	.	134;161	F5GWS3;Q6P9B6	.;K1609_HUMAN	Q	161;134	ENSP00000343635:R161Q;ENSP00000441997:R134Q	ENSP00000343635:R161Q	R	-	2	0	KIAA1609	83080432	0.846000	0.29590	0.011000	0.14972	0.112000	0.19704	6.819000	0.75262	1.100000	0.41517	0.591000	0.81541	CGG		0.602	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		83	208	0	0	0	1	0	83	208					T	84522931	C	T	84522931	3	4	79	1	0	0	0	0	1	0	0	0	8277	652	23	1	908	1	KIAA1609	16	84522931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9298	84522931	5831822	16570	26887											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		10	148	0	0	0	1	0	10	148					G	84600451	T	G	84600451	4	3	79	1	0	0	0	0	0	0	0	0	3770	1732	60	4	3	4	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77520	84600451	5754302	16571	26888											
KLHL36	79786	broad.mit.edu	37	chr16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcggcgcctcctacattgGgctcaaggccgtggtggact	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(286-288)gGg>gAg		kelch-like family member 36							81	73	76					16																	84690700		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690700G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.287G>A	16.37:g.84690700G>A	ENSP00000456743:p.Gly96Glu					KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	428	+			96			BTB.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.287G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922463	0.52653	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65732	-0.17	5.7	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046923	0.85682	D	0.000000	T	0.76877	0.4049	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79671	-0.1706	10	0.72032	D	0.01	.	15.805	0.78491	0.0:0.1363:0.8637:0.0	.	96;96	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	96	ENSP00000258157:G96E	ENSP00000258157:G96E	G	+	2	0	KLHL36	83248201	1.000000	0.71417	0.965000	0.40720	0.202000	0.24057	9.664000	0.98607	1.380000	0.46344	-0.176000	0.13171	GGG		0.607	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			94	282	0	0	0	1	0	94	282					A	84690700	G	A	84690700	3	1	79	1	0	0	0	0	1	0	0	0	8419	1232	43	2	293	2	KLHL36	16	84690700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90249	84690700	5664053	16572	26889											
KLHL36	79786	broad.mit.edu	37	chr16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccctgcagtggctgaCgcagcagcccgagcgcgagg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	219	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(655-657)aCg>aTg		kelch-like family member 36							27	25	26					16																	84691069		2184	4287	6471	SO:0001583	missense	79786							g.chr16:84691069C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.656C>T	16.37:g.84691069C>T	ENSP00000456743:p.Thr219Met					KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	797	+			219			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.656C>T	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269783	0.59540	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69435	-0.4	5.53	5.53	0.82687	BTB/Kelch-associated (2);	0.180710	0.56097	D	0.000033	T	0.72203	0.3431	L	0.28274	0.84	0.47308	D	0.999388	D;D	0.71674	0.998;0.998	D;P	0.63703	0.917;0.891	T	0.74999	-0.3472	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	219;219	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	M	219	ENSP00000258157:T219M	ENSP00000258157:T219M	T	+	2	0	KLHL36	83248570	0.947000	0.32204	0.999000	0.59377	0.989000	0.77384	3.012000	0.49575	2.587000	0.87381	0.563000	0.77884	ACG		0.667	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			98	220	0	0	0	1	0	98	220					T	84691069	C	T	84691069	3	4	79	1	0	0	0	0	1	0	0	0	8419	536	19	1	662	1	KLHL36	16	84691069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	84691069	5663684	16573	26890											
KLHL36	79786	broad.mit.edu	37	chr16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggcgaggtctccgagCggtgtctggagctcagtgac	18	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(919-921)Cgg>Tgg		kelch-like family member 36							19	21	20					16																	84691332		2197	4298	6495	SO:0001583	missense	79786							g.chr16:84691332C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.919C>T	16.37:g.84691332C>T	ENSP00000456743:p.Arg307Trp					KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	1060	+			307					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.919C>T	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840363	0.71488	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.15	4.2	0.49525	Kelch-type beta propeller (1);	0.122178	0.56097	D	0.000030	T	0.73745	0.3626	M	0.62723	1.935	0.52099	D	0.999941	D;D	0.67145	0.996;0.983	P;P	0.53954	0.738;0.588	T	0.77760	-0.2467	10	0.87932	D	0	.	14.9005	0.70675	0.0:0.8562:0.1438:0.0	.	307;307	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	307	ENSP00000258157:R307W	ENSP00000258157:R307W	R	+	1	2	KLHL36	83248833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.730000	0.62015	1.163000	0.42636	-0.257000	0.10917	CGG		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			41	127	0	0	0	1	0	41	127					T	84691332	C	T	84691332	3	4	79	1	0	0	0	0	1	0	0	0	8419	759	27	1	925	1	KLHL36	16	84691332	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263	84691332	5663421	16574	26891											
KLHL36	79786	broad.mit.edu	37	chr16	84695391	84695391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctactccatcgggggcagCgatgacaacatcgagtccat	10	12	1	1	rs372073383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	501					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1501-1503)agC>agT		kelch-like family member 36		C		0,4398		0,0,2199	67	60	62		1503	-3.6	1	16		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL36	NM_024731.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		501/617	84695391	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84695391C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1503C>T	16.37:g.84695391C>T						KLHL36_ENST00000258157.5_Silent_p.S438S	p.S501S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1644	+			501					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1503C>T	CCDS10948.1																																																																																				0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			90	239	0	0	0	1	0	90	239					T	84695391	C	T	84695391	2	4	79	1	0	0	0	0	0	0	0	1	8419	767	27	1		1	KLHL36	16	84695391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	84695391	5659362	16575	26892											
ZDHHC7	55625	broad.mit.edu	37	chr16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctttggaaggcagcaGcatgacgaaagtcaccacga	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	70					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(208-210)Ctg>Atg		zinc finger, DHHC-type containing 7							116	90	99					16																	85024017		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85024017G>T	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.208C>A	16.37:g.85024017G>T	ENSP00000315604:p.Leu70Met					ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	p.L70M	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			3	560	-			70					D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.208C>A	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341290	0.60963	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.41758	0.99;1.22	5.07	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	D;D	0.61080	0.964;0.989	D;D	0.63488	0.915;0.912	T	0.57365	-0.7824	10	0.62326	D	0.03	-12.2093	9.1614	0.37025	0.2827:0.0:0.7173:0.0	.	70;70	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	M	70	ENSP00000315604:L70M;ENSP00000341681:L70M	ENSP00000315604:L70M	L	-	1	2	ZDHHC7	83581518	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.348000	0.44045	1.119000	0.41883	0.313000	0.20887	CTG		0.557	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		31	164	1	0	7.68411e-24	1	8.75532e-24	31	164					T	85024017	G	T	85024017	3	4	79	1	0	0	0	0	1	0	0	0	17673	962	34	3	857	3	ZDHHC7	16	85024017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328626	85024017	5330736	16576	26893											
KIAA0182	23199	broad.mit.edu	37	chr16	85689364	85689364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctactgcctgtctgccctgaGgtccccgttctaccccatcc	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85689364G>T	ENST00000253458.7	+	6	1006	c.830G>T	c.(829-831)aGg>aTg	p.R277M	GSE1_ENST00000405402.2_Missense_Mutation_p.R173M|GSE1_ENST00000393243.1_Missense_Mutation_p.R204M	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	277																	TCTGCCCTGAGGTCCCCGTTC	0.647																																						ENST00000253458.7																			0											c.(829-831)aGg>aTg		Gse1 coiled-coil protein							92	80	84					16																	85689364		2195	4298	6493	SO:0001583	missense	23199							g.chr16:85689364G>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.830G>T	16.37:g.85689364G>T	ENSP00000253458:p.Arg277Met					GSE1_ENST00000405402.2_Missense_Mutation_p.R173M|GSE1_ENST00000393243.1_Missense_Mutation_p.R204M	p.R277M	NM_014615.2	NP_055430.1					6	1006	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.830G>T	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111791|4.111791	0.77210|0.77210	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	.|T;T;T	.|0.41400	.|1.01;1.0;1.05	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64338|0.64338	0.2589|0.2589	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.69094|0.69094	-0.5236|-0.5236	5|10	.|0.87932	.|D	.|0	-26.9258|-26.9258	17.8254|17.8254	0.88664|0.88664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|204;277	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	C|M	84|173;173;277;204	.|ENSP00000384839:R173M;ENSP00000253458:R277M;ENSP00000376934:R204M	.|ENSP00000253458:R277M	G|R	+|+	1|2	0|0	KIAA0182|KIAA0182	84246865|84246865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.450000|9.450000	0.97607|0.97607	2.211000|2.211000	0.71520|0.71520	0.555000|0.555000	0.69702|0.69702	GGT|AGG		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		50	340	1	0	1.67753e-36	1	2.00853e-36	50	340					T	85689364	G	T	85689364	3	4	79	1	0	0	0	0	1	0	0	0	8189	1000	35	3	852	3	KIAA0182	16	85689364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	665347	85689364	4665389	16577	26894											
KIAA0182	23199	broad.mit.edu	37	chr16	85690962	85690962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaccccacaccacacGgtgcccagcctcatctccaa	6	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85690962G>A	ENST00000253458.7	+	8	1568	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	GSE1_ENST00000405402.2_Silent_p.T360T|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.T391T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	464																	CACACCACACGGTGCCCAGCC	0.632																																						ENST00000253458.7																			0											c.(1390-1392)acG>acA		Gse1 coiled-coil protein							66	56	59					16																	85690962		2197	4299	6496	SO:0001819	synonymous_variant	23199							g.chr16:85690962G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1392G>A	16.37:g.85690962G>A						GSE1_ENST00000405402.2_Silent_p.T360T|GSE1_ENST00000393243.1_Silent_p.T391T	p.T464T	NM_014615.2	NP_055430.1					8	1568	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1392G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228678	0.06022	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-0.2401	2.2276	0.03988	0.233:0.1632:0.3746:0.2292	.	.	.	.	Q	271	.	.	R	+	2	0	KIAA0182	84248463	0.000000	0.05858	0.001000	0.08648	0.471000	0.32888	-4.634000	0.00205	-3.194000	0.00219	-0.311000	0.09066	CGG		0.632	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		84	395	0	0	0	1	0	84	395					A	85690962	G	A	85690962	2	1	79	1	0	0	0	0	0	0	0	1	8189	1103	39	1		1	KIAA0182	16	85690962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1598	85690962	4663791	16578	26895											
KIAA0182	23199	broad.mit.edu	37	chr16	85691142	85691142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggcagcaggtgctggaGcagcacctggatatgggccg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85691142G>A	ENST00000253458.7	+	8	1748	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	GSE1_ENST00000405402.2_Silent_p.E420E|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.E451E	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	524																	AGGTGCTGGAGCAGCACCTGG	0.687																																						ENST00000253458.7																			0											c.(1570-1572)gaG>gaA		Gse1 coiled-coil protein							11	15	14					16																	85691142		2169	4280	6449	SO:0001819	synonymous_variant	23199							g.chr16:85691142G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1572G>A	16.37:g.85691142G>A						GSE1_ENST00000405402.2_Silent_p.E420E|GSE1_ENST00000393243.1_Silent_p.E451E	p.E524E	NM_014615.2	NP_055430.1					8	1748	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1572G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.785038	0.16189	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	4.1	0.47936	.	.	.	.	.	T	0.72374	0.3452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70378	-0.4888	4	.	.	.	-29.4069	16.6117	0.84885	0.0706:0.0:0.9294:0.0	.	.	.	.	N	331	.	.	S	+	2	0	KIAA0182	84248643	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.570000	0.82390	0.552000	0.29026	-1.134000	0.01955	AGC		0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		27	85	0	0	0	1	0	27	85					A	85691142	G	A	85691142	2	1	79	1	0	0	0	0	0	0	0	1	8189	962	34	2		2	KIAA0182	16	85691142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180	85691142	4663611	16579	26896											
KIAA0182	23199	broad.mit.edu	37	chr16	85695124	85695124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccttcctgcccgggccCgggcccttcctggctgagct	12	19	0	1	rs141847715	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85695124C>T	ENST00000253458.7	+	9	2189	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	GSE1_ENST00000405402.2_Silent_p.P567P|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.P598P	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	671	Pro-rich.							p.P671L(1)									TGCCCGGGCCCGGGCCCTTCC	0.711																																						ENST00000253458.7																			1	Substitution - Missense(1)	p.P671L(1)	skin(1)								c.(2011-2013)ccC>ccT		Gse1 coiled-coil protein		C	,	1,4369		0,1,2184	13	17	16		1701,2013	-3.9	1	16	dbSNP_134	16	3,8567		0,3,4282	no	coding-synonymous,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	0,4,6466	TT,TC,CC		0.035,0.0229,0.0309	,	567/1114,671/1218	85695124	4,12936	2185	4285	6470	SO:0001819	synonymous_variant	23199							g.chr16:85695124C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2013C>T	16.37:g.85695124C>T						GSE1_ENST00000405402.2_Silent_p.P567P|GSE1_ENST00000393243.1_Silent_p.P598P	p.P671P	NM_014615.2	NP_055430.1					9	2189	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2013C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	c	6.962	0.547409	0.13312	2.29E-4	3.5E-4	ENSG00000131149	ENST00000412692	T	0.30448	1.53	3.62	-3.9	0.04181	.	0.055638	0.64402	D	0.000001	T	0.09555	0.0235	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36578	-0.9742	7	0.02654	T	1	-15.4794	4.8227	0.13400	0.0:0.3707:0.3445:0.2848	.	.	.	.	L	478	ENSP00000402367:P478L	ENSP00000402367:P478L	P	+	2	0	KIAA0182	84252625	0.050000	0.20438	0.964000	0.40570	0.638000	0.38207	-1.449000	0.02392	-0.822000	0.04306	-0.405000	0.06341	CCG		0.711	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		7	194	0	0	0	1	0	7	194					T	85695124	C	T	85695124	2	4	79	1	0	0	0	0	0	0	0	1	8189	639	23	1		1	KIAA0182	16	85695124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3982	85695124	4659629	16580	26897											
KIAA0182	23199	broad.mit.edu	37	chr16	85696964	85696964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctagaagctagagtttttGcaactttttggcttgaccac	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85696964G>A	ENST00000253458.7	+	11	2564	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L	GSE1_ENST00000405402.2_Silent_p.L692L|GSE1_ENST00000393243.1_Silent_p.L723L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	796																	TAGAGTTTTTGCAACTTTTTG	0.562																																						ENST00000253458.7																			0											c.(2386-2388)ttG>ttA		Gse1 coiled-coil protein							104	123	116					16																	85696964		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85696964G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2388G>A	16.37:g.85696964G>A						GSE1_ENST00000405402.2_Silent_p.L692L|GSE1_ENST00000393243.1_Silent_p.L723L	p.L796L	NM_014615.2	NP_055430.1					11	2564	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2388G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953023	0.18431	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.21	4.25	0.50352	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52177	-0.8610	4	.	.	.	-12.8675	5.6565	0.17644	0.1538:0.0:0.6779:0.1683	.	.	.	.	Y	603	.	.	C	+	2	0	KIAA0182	84254465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.943000	0.49026	2.438000	0.82558	0.561000	0.74099	TGC		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		184	958	0	0	0	1	0	184	958					A	85696964	G	A	85696964	2	1	79	1	0	0	0	0	0	0	0	1	8189	1310	46	2		2	KIAA0182	16	85696964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1840	85696964	4657789	16581	26898											
KIAA0182	23199	broad.mit.edu	37	chr16	85698636	85698636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagacaaagagagacttgTtgaaatgctccgtgccatga	10	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85698636T>C	ENST00000253458.7	+	12	2836	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	GSE1_ENST00000405402.2_Missense_Mutation_p.V783A|GSE1_ENST00000393243.1_Missense_Mutation_p.V814A	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	887																	GAGAGACTTGTTGAAATGCTC	0.522																																						ENST00000253458.7																			0											c.(2659-2661)gTt>gCt		Gse1 coiled-coil protein							72	67	68					16																	85698636		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85698636T>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2660T>C	16.37:g.85698636T>C	ENSP00000253458:p.Val887Ala					GSE1_ENST00000405402.2_Missense_Mutation_p.V783A|GSE1_ENST00000393243.1_Missense_Mutation_p.V814A	p.V887A	NM_014615.2	NP_055430.1					12	2836	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2660T>C	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997779	0.54147	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31510	1.5;1.5;1.49	5.16	5.16	0.70880	.	0.278283	0.33959	N	0.004398	T	0.35098	0.0920	N	0.19112	0.55	0.36892	D	0.889952	P;D;D	0.65815	0.951;0.995;0.991	P;D;P	0.63033	0.598;0.91;0.815	T	0.24261	-1.0165	10	0.15499	T	0.54	-5.8079	14.6756	0.68978	0.0:0.0:0.0:1.0	.	650;814;887	Q59GZ0;Q14687-3;Q14687	.;.;GSE1_HUMAN	A	783;887;814	ENSP00000384839:V783A;ENSP00000253458:V887A;ENSP00000376934:V814A	ENSP00000253458:V887A	V	+	2	0	KIAA0182	84256137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.365000	0.59486	1.960000	0.56953	0.459000	0.35465	GTT		0.522	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		12	278	0	0	0	1	0	12	278					C	85698636	T	C	85698636	3	2	79	1	0	0	0	0	1	0	0	0	8189	1725	60	4	2706	4	KIAA0182	16	85698636	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1672	85698636	4656117	16582	26899											
KIAA0182	23199	broad.mit.edu	37	chr16	85699592	85699592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctaaaagaaccagccacGcagcaagcctctctggatgt	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85699592G>A	ENST00000253458.7	+	13	2945	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	GSE1_ENST00000405402.2_Silent_p.T819T|GSE1_ENST00000393243.1_Silent_p.T850T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	923																	AACCAGCCACGCAGCAAGCCT	0.522																																						ENST00000253458.7																			0											c.(2767-2769)acG>acA		Gse1 coiled-coil protein							41	46	44					16																	85699592		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85699592G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2769G>A	16.37:g.85699592G>A						GSE1_ENST00000405402.2_Silent_p.T819T|GSE1_ENST00000393243.1_Silent_p.T850T	p.T923T	NM_014615.2	NP_055430.1					13	2945	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2769G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697885	0.00725	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.28	-4.61	0.03380	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	T	0.50792	-0.8786	4	.	.	.	-6.0061	9.7617	0.40537	0.5143:0.0:0.3964:0.0893	.	.	.	.	H	692;125	.	.	R	+	2	0	KIAA0182	84257093	0.003000	0.15002	0.390000	0.26220	0.009000	0.06853	-0.179000	0.09768	-1.811000	0.01229	-4.500000	0.00005	CGC		0.522	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		91	274	0	0	0	1	0	91	274					A	85699592	G	A	85699592	2	1	79	1	0	0	0	0	0	0	0	1	8189	1074	38	1		1	KIAA0182	16	85699592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	956	85699592	4655161	16583	26900											
KIAA0182	23199	broad.mit.edu	37	chr16	85701835	85701835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagtcctccagccgcGcccctccaccccagcacaat	7	21	0	0	rs376390313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85701835G>A	ENST00000253458.7	+	14	3396	c.3220G>A	c.(3220-3222)Gcc>Acc	p.A1074T	GSE1_ENST00000405402.2_Missense_Mutation_p.A970T|GSE1_ENST00000393243.1_Missense_Mutation_p.A1001T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1074																	CTCCAGCCGCGCCCCTCCACC	0.647																																						ENST00000253458.7																			0											c.(3220-3222)Gcc>Acc		Gse1 coiled-coil protein							85	90	88					16																	85701835		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85701835G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3220G>A	16.37:g.85701835G>A	ENSP00000253458:p.Ala1074Thr					GSE1_ENST00000405402.2_Missense_Mutation_p.A970T|GSE1_ENST00000393243.1_Missense_Mutation_p.A1001T	p.A1074T	NM_014615.2	NP_055430.1					14	3396	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.3220G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921705	0.17982	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31247	1.5;1.5;1.5	5.53	1.14	0.20703	.	0.499109	0.20844	N	0.084654	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	P;P;D;P	0.54047	0.711;0.903;0.964;0.939	B;B;B;B	0.36922	0.112;0.228;0.228;0.236	T	0.18650	-1.0330	10	0.34782	T	0.22	-6.7814	22.498	0.99972	0.0:0.7778:0.2222:0.0	.	837;970;1001;1074	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	T	970;1074;1001	ENSP00000384839:A970T;ENSP00000253458:A1074T;ENSP00000376934:A1001T	ENSP00000253458:A1074T	A	+	1	0	KIAA0182	84259336	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.412000	0.21131	0.006000	0.14734	0.561000	0.74099	GCC		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		115	631	0	0	0	1	0	115	631					A	85701835	G	A	85701835	3	1	79	1	0	0	0	0	1	0	0	0	8189	1087	38	1	3274	1	KIAA0182	16	85701835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2243	85701835	4652918	16584	26901											
GINS2	51659	broad.mit.edu	37	chr16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggatttcgtctgccttcGggatgttgtctgaagcacta	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(322-324)cCg>cTg		GINS complex subunit 2 (Psf2 homolog)							126	112	116					16																	85712255		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85712255G>A	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.323C>T	16.37:g.85712255G>A	ENSP00000253462:p.Pro108Leu						p.P108L	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			4	423	-			108					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.323C>T	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337646	0.81911	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.79921	-0.1599	9	0.42905	T	0.14	-34.2138	13.9823	0.64313	0.0732:0.0:0.9268:0.0	.	108	Q9Y248	PSF2_HUMAN	L	108	.	ENSP00000253462:P108L	P	-	2	0	GINS2	84269756	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.257000	0.95545	1.349000	0.45751	-0.259000	0.10710	CCG		0.512	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		92	478	0	0	0	1	0	92	478					A	85712255	G	A	85712255	3	1	79	1	0	0	0	0	1	0	0	0	6417	1116	39	1	242	1	GINS2	16	85712255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10420	85712255	4642498	16585	26902											
COX4I1	1327	broad.mit.edu	37	chr16	85840345	85840345	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtctcacaccgtagtGtacggccccctcccgcaaag	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.375G>A	c.(373-375)gtG>gtA	p.V125V	COX4I1_ENST00000561569.1_Splice_Site_p.V125V|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000568794.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	125					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ACACCGTAGTGTACGGCCCCC	0.547																																						ENST00000562336.1																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.e5-1		cytochrome c oxidase subunit IV isoform 1							81	72	75					16																	85840345		2198	4300	6498	SO:0001630	splice_region_variant	1327				respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	g.chr16:85840345G>A	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2265	protein-coding gene	gene with protein product		123864	"cytochrome c oxidase subunit IV"	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.374-1G>A	16.37:g.85840345G>A						COX4I1_ENST00000253452.2_Splice_Site_p.V125_splice|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000561569.1_Splice_Site_p.V125_splice	p.V125_splice			P13073	COX41_HUMAN			5	568	+		Renal(780;0.228)	125					B2R4J2|D3DUM7|Q6P666	Splice_Site	SNP	ENST00000562336.1	37	c.373_splice	CCDS10955.1																																																																																				0.547	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861	Silent	16	406	0	0	0	1	0	16	406					A	85840345	G	A	85840345	5	1	79	1	0	0	0	0	0	0	1	0	3778	1391	48	2	389	2	COX4I1	16	85840345	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128090	85840345	4514408	16586	26903											
IRF8	3394	broad.mit.edu	37	chr16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcccgccggccgacGccatccccagcgagcgacag	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	257					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(769-771)Gcc>Acc		interferon regulatory factor 8							14	18	17					16																	85952190		2154	4243	6397	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952190G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.769G>A	16.37:g.85952190G>A	ENSP00000268638:p.Ala257Thr					IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	p.A257T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1191	+		Prostate(104;0.0771)	257					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.769G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032788	0.19590	.	.	ENSG00000140968	ENST00000268638	D	0.95272	-3.66	5.1	-10.2	0.00374	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.932551	0.09287	N	0.822867	D	0.82540	0.5059	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70421	-0.4876	10	0.14656	T	0.56	-2.6013	2.0591	0.03587	0.46:0.1642:0.21:0.1658	.	257	Q02556	IRF8_HUMAN	T	257	ENSP00000268638:A257T	ENSP00000268638:A257T	A	+	1	0	IRF8	84509691	0.000000	0.05858	0.029000	0.17559	0.913000	0.54294	-0.493000	0.06459	-2.503000	0.00509	-0.142000	0.14014	GCC		0.726	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		78	229	0	0	0	1	0	78	229					A	85952190	G	A	85952190	3	1	79	1	0	0	0	0	1	0	0	0	7866	1087	38	1	791	1	IRF8	16	85952190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111845	85952190	4402563	16587	26904											
IRF8	3394	broad.mit.edu	37	chr16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccagaccaggtcttccGgatgtttccagatatttgtg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	404					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1210-1212)cGg>cAg		interferon regulatory factor 8							63	68	66					16																	85954818		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85954818G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1211G>A	16.37:g.85954818G>A	ENSP00000268638:p.Arg404Gln					IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	p.R404Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			9	1633	+		Prostate(104;0.0771)	404					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.1211G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604648	0.87157	.	.	ENSG00000140968	ENST00000268638	D	0.95171	-3.63	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);	0.108661	0.64402	D	0.000009	D	0.91801	0.7406	L	0.32530	0.975	0.45390	D	0.998373	D	0.55605	0.972	B	0.42522	0.39	D	0.92082	0.5673	10	0.49607	T	0.09	-44.2873	19.6783	0.95946	0.0:0.0:1.0:0.0	.	404	Q02556	IRF8_HUMAN	Q	404	ENSP00000268638:R404Q	ENSP00000268638:R404Q	R	+	2	0	IRF8	84512319	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.305000	0.72805	2.655000	0.90218	0.555000	0.69702	CGG		0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		156	427	0	0	0	1	0	156	427					A	85954818	G	A	85954818	3	1	79	1	0	0	0	0	1	0	0	0	7866	1116	39	1	1241	1	IRF8	16	85954818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2628	85954818	4399935	16588	26905											
FOXF1	2294	broad.mit.edu	37	chr16	86544232	86544232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCgggggaggcggcgcggccat	26	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	ENST00000262426.4	+	1	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	19					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						gcggcggcggcgggggaggcg	0.776																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(55-57)ggC>ggT		forkhead box F1							2	3	2					16																	86544232		1341	2962	4303	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544232C>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.57C>T	16.37:g.86544232C>T							p.G19G	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	100	+			19					B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.57C>T	CCDS10957.2																																																																																				0.776	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		12	23	0	0	0	1	0	12	23					T	86544232	C	T	86544232	2	4	79	1	0	0	0	0	0	0	0	1	6032	755	27	1		1	FOXF1	16	86544232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589414	86544232	3810521	16589	26906											
FOXF1	2294	broad.mit.edu	37	chr16	86545078	86545078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggccaaccccctgtcCggcagcctctccacgcactc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	301					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(901-903)tcC>tcT		forkhead box F1							5	6	6					16																	86545078		2037	4050	6087	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86545078C>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.903C>T	16.37:g.86545078C>T							p.S301S	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	946	+			301					B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.903C>T	CCDS10957.2																																																																																				0.706	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		21	60	0	0	0	1	0	21	60					T	86545078	C	T	86545078	2	4	79	1	0	0	0	0	0	0	0	1	6032	639	23	1		1	FOXF1	16	86545078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846	86545078	3809675	16590	26907											
FOXC2	2303	broad.mit.edu	37	chr16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccagcccgcggcgcCtaaggacctggtgaagccgc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	67					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(199-201)cCt>cAt		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							54	57	56					16																	86601141		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601141C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.200C>A	16.37:g.86601141C>A	ENSP00000326371:p.Pro67His					RP11-463O9.5_ENST00000563280.1_RNA	p.P67H	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	285	+			67					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.200C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500724	0.64298	.	.	ENSG00000176692	ENST00000320354	D	0.96011	-3.88	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.388043	0.21425	U	0.074752	D	0.96623	0.8898	M	0.62723	1.935	0.43061	D	0.994685	D	0.69078	0.997	P	0.62014	0.897	D	0.96193	0.9139	10	0.38643	T	0.18	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	67	Q99958	FOXC2_HUMAN	H	67	ENSP00000326371:P67H	ENSP00000326371:P67H	P	+	2	0	FOXC2	85158642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.145000	0.66743	0.650000	0.86243	CCT		0.652	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		128	337	1	0	3.21211e-60	1	4.03831e-60	128	337					A	86601141	C	A	86601141	3	1	79	1	0	0	0	0	1	0	0	0	6020	681	24	3	202	3	FOXC2	16	86601141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56063	86601141	3753612	16591	26908											
FOXC2	2303	broad.mit.edu	37	chr16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatcaccttgaacgGcatctaccagttcatcatgg	9	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	97					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15	GRCh37	CD012256	FOXC2	D		c.(289-291)gGc>gAc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							118	122	120					16																	86601231		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601231G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.290G>A	16.37:g.86601231G>A	ENSP00000326371:p.Gly97Asp					RP11-463O9.5_ENST00000563280.1_RNA	p.G97D	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	375	+			97					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.290G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000176692	ENST00000320354	D	0.95103	-3.61	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000029	D	0.94673	0.8282	L	0.37697	1.125	0.80722	D	1	P	0.41978	0.767	P	0.56648	0.803	D	0.94092	0.7354	10	0.37606	T	0.19	.	16.2107	0.82151	0.0:0.0:1.0:0.0	.	97	Q99958	FOXC2_HUMAN	D	97	ENSP00000326371:G97D	ENSP00000326371:G97D	G	+	2	0	FOXC2	85158732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.145000	0.66743	0.650000	0.86243	GGC		0.597	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		42	797	0	0	0	1	0	42	797					A	86601231	G	A	86601231	3	1	79	1	0	0	0	0	1	0	0	0	6020	1203	42	2	292	2	FOXC2	16	86601231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	86601231	3753522	16592	26909											
FOXC2	2303	broad.mit.edu	37	chr16	86601383	86601383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagggcagttactggaccCtggacccggactcctacaac	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601383C>A	ENST00000320354.4	+	1	527	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	148					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TTACTGGACCCTGGACCCGGA	0.627									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(442-444)Ctg>Atg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							58	69	65					16																	86601383		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601383C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.442C>A	16.37:g.86601383C>A	ENSP00000326371:p.Leu148Met						p.L148M	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	527	+			148					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.442C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025122	0.54683	.	.	ENSG00000176692	ENST00000320354	D	0.96913	-4.17	4.54	3.58	0.41010	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.43747	U	0.000525	D	0.97879	0.9303	M	0.85197	2.74	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.72032	D	0.01	.	11.5189	0.50539	0.0:0.9096:0.0:0.0904	.	148	Q99958	FOXC2_HUMAN	M	148	ENSP00000326371:L148M	ENSP00000326371:L148M	L	+	1	2	FOXC2	85158884	0.969000	0.33509	0.984000	0.44739	0.989000	0.77384	2.354000	0.44098	0.899000	0.36444	0.558000	0.71614	CTG		0.627	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		15	717	1	0	1.49906e-05	1	1.53515e-05	15	717					A	86601383	C	A	86601383	3	1	79	1	0	0	0	0	1	0	0	0	6020	680	24	3	444	3	FOXC2	16	86601383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	86601383	3753370	16593	26910											
FBXO31	79791	broad.mit.edu	37	chr16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgttcttgagcatctcatCgaaggcctgtggggacggcg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	528					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1582-1584)Gat>Aat		F-box protein 31							97	71	80					16																	87364932		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87364932C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1582G>A	16.37:g.87364932C>T	ENSP00000310841:p.Asp528Asn					RP11-178L8.4_ENST00000568879.1_Intron	p.D528N	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1594	-			528					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1582G>A	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236583	0.79800	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	.	0.108090	0.64402	D	0.000006	T	0.55513	0.1925	L	0.36672	1.1	0.51767	D	0.999931	P;D	0.54047	0.939;0.964	B;P	0.45971	0.303;0.499	T	0.62695	-0.6800	9	0.72032	D	0.01	-29.6364	18.3459	0.90322	0.0:1.0:0.0:0.0	.	528;420	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	N	528	.	ENSP00000310841:D528N	D	-	1	0	FBXO31	85922433	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAT		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		51	259	0	0	0	1	0	51	259					T	87364932	C	T	87364932	3	4	79	1	0	0	0	0	1	0	0	0	5766	884	31	1	41	1	FBXO31	16	87364932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	763549	87364932	2989821	16594	26911											
FBXO31	79791	broad.mit.edu	37	chr16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccgtggtggggccctTtgtggccgtacatgcactcc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	211					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(631-633)aAa>aCa		F-box protein 31							48	45	46					16																	87377229		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87377229T>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.632A>C	16.37:g.87377229T>G	ENSP00000310841:p.Lys211Thr						p.K211T	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	4	644	-			211					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.632A>C	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674904	0.29783	.	.	ENSG00000103264	ENST00000311635	T	0.70164	-0.46	5.05	-1.46	0.08800	.	0.096351	0.64402	D	0.000001	T	0.49081	0.1536	N	0.24115	0.695	0.39230	D	0.963656	P;P	0.46706	0.883;0.675	B;B	0.42827	0.399;0.381	T	0.45789	-0.9237	10	0.40728	T	0.16	-14.7255	10.9479	0.47312	0.0:0.1776:0.0:0.8224	.	211;103	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	T	211	ENSP00000310841:K211T	ENSP00000310841:K211T	K	-	2	0	FBXO31	85934730	0.994000	0.37717	0.007000	0.13788	0.812000	0.45895	2.197000	0.42696	-0.482000	0.06782	0.533000	0.62120	AAA		0.637	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		20	94	0	0	0	1	0	20	94					G	87377229	T	G	87377229	3	3	79	1	0	0	0	0	1	0	0	0	5766	1841	64	4	1011	4	FBXO31	16	87377229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12297	87377229	2977524	16595	26912											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445750	87445750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgggcagctgggcaaCgtggccatgttggcaaagga	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	722	Ser-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2164-2166)acG>acA		zinc finger, CCHC domain containing 14							39	43	42					16																	87445750		2198	4299	6497	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445750C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2166G>A	16.37:g.87445750C>T							p.T722T	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2383	-			722			Ser-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.2166G>A	CCDS10961.1																																																																																				0.642	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		86	396	0	0	0	1	0	86	396					T	87445750	C	T	87445750	2	4	79	1	0	0	0	0	0	0	0	1	17636	523	19	1		1	ZCCHC14	16	87445750	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68521	87445750	2909003	16596	26913											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446179	87446179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacatggagctgctctcCgaaagcccagagaggacctg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87446179C>T	ENST00000268616.4	-	12	1954	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	579							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGCTCTCCGAAAGCCCAG	0.612																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1735-1737)tcG>tcA		zinc finger, CCHC domain containing 14							50	55	53					16																	87446179		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446179C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1737G>A	16.37:g.87446179C>T							p.S579S	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1954	-			579					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1737G>A	CCDS10961.1																																																																																				0.612	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		11	431	0	0	0	1	0	11	431					T	87446179	C	T	87446179	2	4	79	1	0	0	0	0	0	0	0	1	17636	639	23	1		1	ZCCHC14	16	87446179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429	87446179	2908574	16597	26914											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagatcttcttcagtaaggCtcaaaaactttcacagaaaa	5	9	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	327							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(979-981)aGc>aTc		zinc finger, CCHC domain containing 14							93	93	93					16																	87448966		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448966C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.980G>T	16.37:g.87448966C>A	ENSP00000268616:p.Ser327Ile						p.S327I	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1197	-			327					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.980G>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036877	0.75617	.	.	ENSG00000140948	ENST00000268616	T	0.50813	0.73	5.8	5.8	0.92144	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.133890	0.64402	D	0.000002	T	0.64114	0.2569	L	0.42245	1.32	0.39463	D	0.967599	D;D	0.76494	0.998;0.999	D;D	0.74674	0.934;0.984	T	0.65425	-0.6171	10	0.72032	D	0.01	-30.6939	20.0537	0.97638	0.0:1.0:0.0:0.0	.	327;327	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	327	ENSP00000268616:S327I	ENSP00000268616:S327I	S	-	2	0	ZCCHC14	86006467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.334000	0.59291	2.758000	0.94735	0.561000	0.74099	AGC		0.393	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		71	336	1	0	3.31162e-33	1	3.92088e-33	71	336					A	87448966	C	A	87448966	3	1	79	1	0	0	0	0	1	0	0	0	17636	797	28	3	1889	3	ZCCHC14	16	87448966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2787	87448966	2905787	16598	26915											
JPH3	57338	broad.mit.edu	37	chr16	87677922	87677922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacggcgtccggcagagCgtcccgtatggcatggccgc	16	14	0	1	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					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)			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)		TCCGGCAGAGCGTCCCGTATG	0.677																																						ENST00000284262.2																			0				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						c.(439-441)agC>agT		junctophilin 3		C		1,4395	2.1+/-5.4	0,1,2197	51	53	52		441	-4	0.9	16	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JPH3	NM_020655.2		0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154		147/749	87677922	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	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.chr16:87677922C>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	ENST00000284262.2:c.441C>T	16.37:g.87677922C>T							p.S147S	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	683	+			147					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.441C>T	CCDS10962.1																																																																																				0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			179	478	0	0	0	1	0	179	478					T	87677922	C	T	87677922	2	4	79	1	0	0	0	0	0	0	0	1	7992	767	27	1		1	JPH3	16	87677922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228956	87677922	2676831	16599	26916											
JPH3	57338	broad.mit.edu	37	chr16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggacgacatcgacGccaccaccaccgagacctac	8	17	1	1	rs371703523		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	282					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)			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)		CGACATCGACGCCACCACCAC	0.667																																						ENST00000284262.2																			0				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						c.(844-846)Gcc>Acc		junctophilin 3		G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	85	79	81		844	4.9	1	16		81	0,8600		0,0,4300	no	missense	JPH3	NM_020655.2	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	282/749	87678325	1,12995	2198	4300	6498	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.chr16:87678325G>A	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	ENST00000284262.2:c.844G>A	16.37:g.87678325G>A	ENSP00000284262:p.Ala282Thr						p.A282T	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1086	+			282					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.844G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223433	0.95139	2.27E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51071	0.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.64622	-0.6364	10	0.26408	T	0.33	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	282	Q8WXH2	JPH3_HUMAN	T	145;282	ENSP00000284262:A282T	ENSP00000284262:A282T	A	+	1	0	JPH3	86235826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	GCC		0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			143	357	0	0	0	1	0	143	357					A	87678325	G	A	87678325	3	1	79	1	0	0	0	0	1	0	0	0	7992	1087	38	1	850	1	JPH3	16	87678325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	87678325	2676428	16600	26917											
JPH3	57338	broad.mit.edu	37	chr16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagaacatcctcgtcgGcggcaagcgcaagaacctca	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	345					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)			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)		ATCCTCGTCGGCGGCAAGCGC	0.677																																						ENST00000284262.2																			0				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						c.(1033-1035)gGc>gAc		junctophilin 3							47	56	53					16																	87678515		2197	4300	6497	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.chr16:87678515G>A	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	ENST00000284262.2:c.1034G>A	16.37:g.87678515G>A	ENSP00000284262:p.Gly345Asp						p.G345D	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1276	+			345					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1034G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018483	0.54576	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.70045	-0.45	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.08118	0	0.26726	N	0.970681	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.21014	T	0.42	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	345	Q8WXH2	JPH3_HUMAN	D	208;345	ENSP00000284262:G345D	ENSP00000284262:G345D	G	+	2	0	JPH3	86236016	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	6.520000	0.73773	2.098000	0.63641	0.561000	0.74099	GGC		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			84	302	0	0	0	1	0	84	302					A	87678515	G	A	87678515	3	1	79	1	0	0	0	0	1	0	0	0	7992	1203	42	2	1040	2	JPH3	16	87678515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	87678515	2676238	16601	26918											
KLHDC4	54758	broad.mit.edu	37	chr16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtccctcaaaccaacGgttcctggtggcgtcgtaga	11	13	1	1	rs141733244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1021-1023)Cgt>Tgt		kelch domain containing 4		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4394	2.1+/-5.4	0,2,2196	108	103	105		850,928,1021	3.6	1	16	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	180,180,180	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging	284/464,310/490,341/521	87744864	2,12994	2198	4300	6498	SO:0001583	missense	54758							g.chr16:87744864G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1021C>T	16.37:g.87744864G>A	ENSP00000270583:p.Arg341Cys					KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C	p.R341C	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	9	1079	-			341					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.1021C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173339	0.57584	4.55E-4	0.0	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.18502	2.21;2.21;2.21	4.54	3.59	0.41128	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93462	3.42	0.80722	D	1	P;P;D;D	0.89917	0.892;0.939;1.0;1.0	B;B;D;D	0.83275	0.376;0.357;0.978;0.996	T	0.59252	-0.7489	10	0.59425	D	0.04	-18.6654	11.4437	0.50110	0.0889:0.0:0.9111:0.0	.	160;284;310;341	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	C	341;160;310;284	ENSP00000270583:R341C;ENSP00000325717:R310C;ENSP00000262530:R284C	ENSP00000270583:R341C	R	-	1	0	KLHDC4	86302365	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	8.659000	0.91116	0.910000	0.36722	0.591000	0.81541	CGT		0.587	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		60	376	0	0	0	1	0	60	376					A	87744864	G	A	87744864	3	1	79	1	0	0	0	0	1	0	0	0	8388	1116	39	1	553	1	KLHDC4	16	87744864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66349	87744864	2609889	16602	26919											
KLHDC4	54758	broad.mit.edu	37	chr16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggaagccaccaaacaGgatcaattgtctcttccagg	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(571-573)Ctg>Atg		kelch domain containing 4							148	127	134					16																	87764186		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87764186G>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.571C>A	16.37:g.87764186G>T	ENSP00000270583:p.Leu191Met					KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M	p.L191M	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	6	629	-			191					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.571C>A	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528879	0.64860	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	T;T	0.69040	-0.37;-0.37	4.92	1.22	0.21188	Kelch-type beta propeller (1);	0.291280	0.32593	N	0.005883	T	0.65217	0.2670	L	0.31476	0.935	0.31859	N	0.621278	D;D;B	0.64830	0.994;0.991;0.397	D;P;B	0.65987	0.94;0.894;0.206	T	0.66110	-0.6005	10	0.45353	T	0.12	-21.5663	7.3044	0.26438	0.0:0.3857:0.3034:0.311	.	10;134;191	Q9UF94;Q8TBB5-2;Q8TBB5	.;.;KLDC4_HUMAN	M	191;10;134	ENSP00000270583:L191M;ENSP00000262530:L134M	ENSP00000270583:L191M	L	-	1	2	KLHDC4	86321687	0.043000	0.20138	0.538000	0.28064	0.827000	0.46813	-0.176000	0.09811	1.010000	0.39314	0.655000	0.94253	CTG		0.438	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		133	470	1	0	4.54241e-80	1	5.80792e-80	133	470					T	87764186	G	T	87764186	3	4	79	1	0	0	0	0	1	0	0	0	8388	991	35	3	1015	3	KLHDC4	16	87764186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19322	87764186	2590567	16603	26920											
KLHDC4	54758	broad.mit.edu	37	chr16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttccaggccaccatcCgatgtccactccgacccgaa	7	18	1	0	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18624	0.001		0.0	False		,,,				2504	0.0					ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(541-543)cGg>cAg		kelch domain containing 4		C	GLN/ARG,,GLN/ARG	6,4390	11.4+/-27.6	0,6,2192	136	120	126		371,,542	4.9	1	16	dbSNP_134	126	0,8600		0,0,4300	yes	missense,intron,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	43,,43	0,6,6492	TT,TC,CC		0.0,0.1365,0.0462	probably-damaging,,probably-damaging	124/464,,181/521	87764215	6,12990	2198	4300	6498	SO:0001583	missense	54758							g.chr16:87764215C>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.542G>A	16.37:g.87764215C>T	ENSP00000270583:p.Arg181Gln					KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q	p.R181Q	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	6	600	-			181					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.542G>A	CCDS10963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.604795	0.96626	0.001365	0.0	ENSG00000104731	ENST00000270583;ENST00000353170	T;T	0.62232	0.04;0.04	4.92	4.92	0.64577	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.79926	-0.1597	10	0.59425	D	0.04	-1.9439	15.2697	0.73689	0.0:1.0:0.0:0.0	.	124;181	Q8TBB5-2;Q8TBB5	.;KLDC4_HUMAN	Q	181;124	ENSP00000270583:R181Q;ENSP00000262530:R124Q	ENSP00000270583:R181Q	R	-	2	0	KLHDC4	86321716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.272000	0.75746	0.655000	0.94253	CGG		0.433	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		32	553	0	0	0	1	0	32	553					T	87764215	C	T	87764215	3	4	79	1	0	0	0	0	1	0	0	0	8388	652	23	1	1044	1	KLHDC4	16	87764215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	87764215	2590538	16604	26921											
SLC7A5	8140	broad.mit.edu	37	chr16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggcaggccaggatgAagaacacaggcagggccagg	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	439					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGCCAGGATGAAGAACACAGG	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1315-1317)tTc>tGc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							39	36	37					16																	87868172		2189	4294	6483	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87868172A>C	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1316T>G	16.37:g.87868172A>C	ENSP00000261622:p.Phe439Cys					SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	p.F439C	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	9	1381	-			439					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1316T>G	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473396	0.84640	.	.	ENSG00000103257	ENST00000261622	D	0.90444	-2.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.7371	0.69424	1.0:0.0:0.0:0.0	.	439	Q01650	LAT1_HUMAN	C	439	ENSP00000261622:F439C	ENSP00000261622:F439C	F	-	2	0	SLC7A5	86425673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.087000	0.76893	2.084000	0.62774	0.374000	0.22700	TTC		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		15	44	0	0	0	1	0	15	44					C	87868172	A	C	87868172	3	2	79	1	0	0	0	0	1	0	0	0	14750	246	9	4	215	4	SLC7A5	16	87868172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103957	87868172	2486581	16605	26922											
SLC7A5	8140	broad.mit.edu	37	chr16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctccataggcaaagaGgccgctgtataatgccagca	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(751-753)Ctc>Atc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							205	176	186					16																	87874675		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874675G>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	16.37:g.87874675G>T	ENSP00000261622:p.Leu251Ile					SLC7A5_ENST00000565644.1_5'UTR	p.L251I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	816	-			251					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.751C>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC		0.522	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		65	424	1	0	9.5628e-27	1	1.10398e-26	65	424					T	87874675	G	T	87874675	3	4	79	1	0	0	0	0	1	0	0	0	14750	1000	35	3	804	3	SLC7A5	16	87874675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6503	87874675	2480078	16606	26923											
BANP	54971	broad.mit.edu	37	chr16	88066767	88066767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcccgcagccacagccGcagccgcaggccctgcacta	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	364	DNA-binding. {ECO:0000250}.|Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1090-1092)ccG>ccA		BTG3 associated nuclear protein							27	23	25					16																	88066767		2198	4299	6497	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88066767G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1092G>A	16.37:g.88066767G>A						BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000393208.2_Silent_p.P333P	p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	9	1313	+			364			DNA-binding (By similarity).|Gln-rich.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.1092G>A	CCDS54054.1																																																																																				0.627	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		10	199	0	0	0	1	0	10	199					A	88066767	G	A	88066767	2	1	79	1	0	0	0	0	0	0	0	1	1311	1074	38	1		1	BANP	16	88066767	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192092	88066767	2287986	16607	26924											
ZFPM1	161882	broad.mit.edu	37	chr16	88600853	88600853	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgtgagcttccacagcctCgaggcctacctggcgcacaa	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	ENST00000319555.3	+	10	2809	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	829					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCACAGCCTCGAGGCCTACC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2485-2487)ctC>ctT		zinc finger protein, FOG family member 1							4	5	5					16																	88600853		1615	3521	5136	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600853C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2487C>T	16.37:g.88600853C>T							p.L829L	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2809	+			829						Silent	SNP	ENST00000319555.3	37	c.2487C>T	CCDS32502.1																																																																																				0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			8	56	0	0	0	1	0	8	56					T	88600853	C	T	88600853	2	4	79	1	0	0	0	0	0	0	0	1	17710	871	31	1		1	ZFPM1	16	88600853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534086	88600853	1753900	16608	26925											
ZFPM1	161882	broad.mit.edu	37	chr16	88601210	88601210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgccgcccccgccggcGcccccctcctactcggacaa	10	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	ENST00000319555.3	+	10	3166	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	948					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ccccgccggcgcccccCTCCT	0.791																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2842-2844)gcG>gcA		zinc finger protein, FOG family member 1							7	9	9					16																	88601210		1898	4030	5928	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88601210G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2844G>A	16.37:g.88601210G>A							p.A948A	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	3166	+			948						Silent	SNP	ENST00000319555.3	37	c.2844G>A	CCDS32502.1																																																																																				0.791	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			13	139	0	0	0	1	0	13	139					A	88601210	G	A	88601210	2	1	79	1	0	0	0	0	0	0	0	1	17710	1074	38	1		1	ZFPM1	16	88601210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	88601210	1753543	16609	26926											
ZC3H18	124245	broad.mit.edu	37	chr16	88643732	88643732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaagataatcactcCgacgaggaggaccgggcaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	67						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(199-201)tcC>tcT		zinc finger CCCH-type containing 18							33	35	35					16																	88643732		2197	4300	6497	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643732C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.201C>T	16.37:g.88643732C>T						ZC3H18_ENST00000452588.2_Silent_p.S67S	p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	401	+			67					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.201C>T	CCDS10967.1																																																																																				0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		51	157	0	0	0	1	0	51	157					T	88643732	C	T	88643732	2	4	79	1	0	0	0	0	0	0	0	1	17621	639	23	1		1	ZC3H18	16	88643732	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42522	88643732	1711021	16610	26927											
ZC3H18	124245	broad.mit.edu	37	chr16	88643861	88643861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggaagaccggacaagCgaccttagggatgaggcctc	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	110						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACCGGACAAGCGACCTTAGGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(328-330)agC>agT		zinc finger CCCH-type containing 18							47	47	47					16																	88643861		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643861C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.330C>T	16.37:g.88643861C>T						ZC3H18_ENST00000452588.2_Silent_p.S110S	p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	530	+			110					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.330C>T	CCDS10967.1																																																																																				0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		7	158	0	0	0	1	0	7	158					T	88643861	C	T	88643861	2	4	79	1	0	0	0	0	0	0	0	1	17621	767	27	1		1	ZC3H18	16	88643861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	88643861	1710892	16611	26928											
ZC3H18	124245	broad.mit.edu	37	chr16	88677771	88677771	+	Silent	SNP	C	C	T													gagcgccggcagagggagcgCgagcgagagcgggagcgcga					rs545485000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	ENST00000301011.5	+	8	1502	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	ZC3H18_ENST00000452588.2_Silent_p.R458R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	434						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagggagcgcgagcgagagc	0.711																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1300-1302)cgC>cgT		zinc finger CCCH-type containing 18							21	20	20					16																	88677771		2011	3961	5972	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677771C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1302C>T	16.37:g.88677771C>T						ZC3H18_ENST00000452588.2_Silent_p.R458R	p.R434R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1502	+			434					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1302C>T	CCDS10967.1																																																																																				0.711	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		9	18	0	0	0	1	0	9	18					T	88677771	C	T	88677771	2	4	79	1	0	0	0	0	0	0	0	1	17621	755	27	1		1	ZC3H18	16	88677771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33910	88677771	1676982	16612	26929	172	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88677775	88677775	+	Nonsense_Mutation	SNP	C	C	T													gccggcagagggagcgcgagCgagagcgggagcgcgagcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	ENST00000301011.5	+	8	1506	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	436						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgcgagcgagagcggga	0.716																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1306-1308)Cga>Tga		zinc finger CCCH-type containing 18							23	21	22					16																	88677775		2004	3945	5949	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677775C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1306C>T	16.37:g.88677775C>T	ENSP00000301011:p.Arg436*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	p.R436*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1506	+			436					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1306C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	c	40	8.273678	0.98737	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.22	4.22	0.49857	.	0.185891	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4202	13.8736	0.63638	0.0:1.0:0.0:0.0	.	.	.	.	X	436;460	.	ENSP00000301011:R436X	R	+	1	2	ZC3H18	87205276	1.000000	0.71417	0.978000	0.43139	0.766000	0.43426	2.287000	0.43505	2.064000	0.61679	0.457000	0.33378	CGA		0.716	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		9	19	0	0	0	1	0	9	19					T	88677775	C	T	88677775	4	4	79	1	0	0	0	0	0	1	0	0	17621	760	27	1	1332	1	ZC3H18	16	88677775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	88677775	1676978	16613	26930	172	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88688650	88688650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgccaccacggggccGcaggtgaagagagcagatga	17	10	0	4	rs370135967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1519-1521)ccG>ccA		zinc finger CCCH-type containing 18		G		0,4396		0,0,2198	50	52	52		1521	-11.3	0.1	16		52	1,8599		0,1,4299	no	coding-synonymous	ZC3H18	NM_144604.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		507/954	88688650	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688650G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>A	16.37:g.88688650G>A						ZC3H18_ENST00000452588.2_Silent_p.P531P	p.P507P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1721	+			507					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1521G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.574	-0.298990	0.05532	0.0	1.16E-4	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	5	0.87932	D	0	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	H	331	.	ENSP00000442341:R331H	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		65	182	0	0	0	1	0	65	182					A	88688650	G	A	88688650	2	1	79	1	0	0	0	0	0	0	0	1	17621	1074	38	1		1	ZC3H18	16	88688650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10875	88688650	1666103	16614	26931											
ZC3H18	124245	broad.mit.edu	37	chr16	88690390	88690390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtccttctcttcgtccccGtccccgtccccaacaccttc	5	22	1	0	rs200434508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	606	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14940	0.0		0.0	False		,,,				2504	0.0				Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1816-1818)ccG>ccA		zinc finger CCCH-type containing 18							96	88	91					16																	88690390		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88690390G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1818G>A	16.37:g.88690390G>A						ZC3H18_ENST00000452588.2_Silent_p.P630P	p.P606P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	11	2018	+			606			Ser-rich.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1818G>A	CCDS10967.1																																																																																				0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		127	521	0	0	0	1	0	127	521					A	88690390	G	A	88690390	2	1	79	1	0	0	0	0	0	0	0	1	17621	1132	40	1		1	ZC3H18	16	88690390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	88690390	1664363	16615	26932											
ZC3H18	124245	broad.mit.edu	37	chr16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagcccaccaagccaggaGaccctcgggaagccaggagg	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	664	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1990-1992)Gac>Tac		zinc finger CCCH-type containing 18							37	55	49					16																	88691101		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691101G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1990G>T	16.37:g.88691101G>T	ENSP00000301011:p.Asp664Tyr					ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	p.D664Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2190	+			664			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1990G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746622	0.30955	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.33216	1.42;1.42	5.38	5.38	0.77491	.	0.098661	0.64402	D	0.000001	T	0.49847	0.1581	L	0.51422	1.61	0.49582	D	0.999801	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.49670	-0.8915	10	0.87932	D	0	-20.5211	17.3162	0.87225	0.0:0.0:1.0:0.0	.	688;664	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	664;632;688	ENSP00000301011:D664Y;ENSP00000416951:D688Y	ENSP00000289509:D632Y	D	+	1	0	ZC3H18	87218602	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	5.129000	0.64739	2.527000	0.85204	0.655000	0.94253	GAC		0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		85	216	1	0	2.93434e-44	1	3.58945e-44	85	216					T	88691101	G	T	88691101	3	4	79	1	0	0	0	0	1	0	0	0	17621	942	33	3	2032	3	ZC3H18	16	88691101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711	88691101	1663652	16616	26933											
IL17C	27189	broad.mit.edu	37	chr16	88706252	88706252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgaggaccgctatccacaGaagctggccttcgccgagtg	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706252G>T	ENST00000244241.4	+	3	415	c.366G>T	c.(364-366)caG>caT	p.Q122H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	122					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTATCCACAGAAGCTGGCCT	0.667																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(364-366)caG>caT		interleukin 17C							22	29	27					16																	88706252		2095	4213	6308	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706252G>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.366G>T	16.37:g.88706252G>T	ENSP00000244241:p.Gln122His						p.Q122H	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	415	+			122					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.366G>T	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995595	0.35226	.	.	ENSG00000124391	ENST00000244241	T	0.56611	0.45	4.66	0.998	0.19857	.	0.101773	0.42053	D	0.000763	T	0.56891	0.2016	M	0.61703	1.905	0.27750	N	0.944196	D	0.61697	0.99	P	0.55455	0.776	T	0.52419	-0.8578	10	0.56958	D	0.05	-18.9878	7.2541	0.26166	0.2758:0.159:0.5652:0.0	.	122	Q9P0M4	IL17C_HUMAN	H	122	ENSP00000244241:Q122H	ENSP00000244241:Q122H	Q	+	3	2	IL17C	87233753	0.362000	0.24980	0.648000	0.29521	0.009000	0.06853	0.326000	0.19646	0.081000	0.16988	-1.134000	0.01955	CAG		0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		4	64	1	0	0.00909568	1	0.00914726	4	64					T	88706252	G	T	88706252	3	4	79	1	0	0	0	0	1	0	0	0	7666	933	33	3	376	3	IL17C	16	88706252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15151	88706252	1648501	16617	26934											
IL17C	27189	broad.mit.edu	37	chr16	88706264	88706264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccacagaagctggccttCgccgagtgcctgtgcagagg	13	12	0	2	rs375212710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	ENST00000244241.4	+	3	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	126					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGCTGGCCTTCGCCGAGTGCC	0.667																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(376-378)ttC>ttT		interleukin 17C		C		1,4203		0,1,2101	24	30	28		378	-2.4	0.2	16		28	0,8432		0,0,4216	no	coding-synonymous	IL17C	NM_013278.3		0,1,6317	TT,TC,CC		0.0,0.0238,0.0079		126/198	88706264	1,12635	2102	4216	6318	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706264C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.378C>T	16.37:g.88706264C>T							p.F126F	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	427	+			126					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.378C>T	CCDS42217.1																																																																																				0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		24	56	0	0	0	1	0	24	56					T	88706264	C	T	88706264	2	4	79	1	0	0	0	0	0	0	0	1	7666	883	31	1		1	IL17C	16	88706264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	88706264	1648489	16618	26935											
MVD	4597	broad.mit.edu	37	chr16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcatggtcagctgggCgaagctggggaagtctcgct	15	10	3	0	rs202128233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	253					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTCAGCTGGGCGAAGCTGGGG	0.642																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(757-759)Gcc>Acc		mevalonate (diphospho) decarboxylase							230	174	193					16																	88721747		2193	4295	6488	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721747C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.757G>A	16.37:g.88721747C>T	ENSP00000301012:p.Ala253Thr						p.A253T	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	786	-			253					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.757G>A	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.370501|4.370501	0.82573|0.82573	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000301012|ENST00000378400	T|.	0.37915|.	1.17|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.161617|.	0.53938|.	D|.	0.000051|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.58520|.	0.84|.	T|T	0.82362|0.82362	-0.0495|-0.0495	10|6	0.51188|0.66056	T|D	0.08|0.02	-20.2679|-20.2679	17.6298|17.6298	0.88103|0.88103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	P53602|.	MVD1_HUMAN|.	T|H	253|81	ENSP00000301012:A253T|.	ENSP00000301012:A253T|ENSP00000367653:R81H	A|R	-|-	1|2	0|0	MVD|MVD	87249248|87249248	0.982000|0.982000	0.34865|0.34865	0.039000|0.039000	0.18376|0.18376	0.432000|0.432000	0.31715|0.31715	5.257000|5.257000	0.65473|0.65473	2.244000|2.244000	0.73946|0.73946	0.491000|0.491000	0.48974|0.48974	GCC|CGC		0.642	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		8	73	0	0	0	1	0	8	73					T	88721747	C	T	88721747	3	4	79	1	0	0	0	0	1	0	0	0	10035	768	27	1	461	1	MVD	16	88721747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15483	88721747	1633006	16619	26936											
MVD	4597	broad.mit.edu	37	chr16	88723885	88723885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaggccaggcccgcaGccgtggggaagttgttcacc	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88723885G>A	ENST00000301012.3	-	4	391	c.362C>T	c.(361-363)gCt>gTt	p.A121V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	121					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGGCCCGCAGCCGTGGGGAA	0.687																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(361-363)gCt>gTt		mevalonate (diphospho) decarboxylase							31	26	27					16																	88723885		2197	4298	6495	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88723885G>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.362C>T	16.37:g.88723885G>A	ENSP00000301012:p.Ala121Val					MVD_ENST00000568709.1_5'UTR	p.A121V	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	4	391	-			121					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.362C>T	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450964	0.84209	.	.	ENSG00000167508	ENST00000301012	D	0.86297	-2.1	5.18	5.18	0.71444	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104735	0.64402	D	0.000003	D	0.95370	0.8497	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96491	0.9364	10	0.87932	D	0	-19.8806	18.6462	0.91410	0.0:0.0:1.0:0.0	.	121	P53602	MVD1_HUMAN	V	121	ENSP00000301012:A121V	ENSP00000301012:A121V	A	-	2	0	MVD	87251386	1.000000	0.71417	0.954000	0.39281	0.274000	0.26718	6.912000	0.75753	2.574000	0.86865	0.561000	0.74099	GCT		0.687	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		6	146	0	0	0	1	0	6	146					A	88723885	G	A	88723885	3	1	79	1	0	0	0	0	1	0	0	0	10035	971	34	2	868	2	MVD	16	88723885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2138	88723885	1630868	16620	26937											
SNAI3	333929	broad.mit.edu	37	chr16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcccgaaggttggagCggtcggcaaaggccctgctg	18	10	0	0	rs576263427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	249					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(745-747)cGc>cAc		snail family zinc finger 3							69	56	61					16																	88744989		2197	4300	6497	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88744989C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.746G>A	16.37:g.88744989C>T	ENSP00000327968:p.Arg249His					SNAI3-AS1_ENST00000563261.1_RNA	p.R249H	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	832	-			249					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.746G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054378	0.93793	.	.	ENSG00000185669	ENST00000332281	T	0.36157	1.27	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.38733	1.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49184	-0.8966	10	0.48119	T	0.1	-54.8198	17.6108	0.88053	0.0:1.0:0.0:0.0	.	249	Q3KNW1	SNAI3_HUMAN	H	249	ENSP00000327968:R249H	ENSP00000327968:R249H	R	-	2	0	SNAI3	87272490	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.647000	0.67923	2.521000	0.84997	0.561000	0.74099	CGC		0.647	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			31	201	0	0	0	1	0	31	201					T	88744989	C	T	88744989	3	4	79	1	0	0	0	0	1	0	0	0	14878	768	27	1	136	1	SNAI3	16	88744989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	88744989	1609764	16621	26938											
SNAI3	333929	broad.mit.edu	37	chr16	88747821	88747821	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccggtctgggcccaaggtCggggaccaccgtgtgggcag	18	12	1	0	rs200850230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	126					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16415	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(376-378)ccG>ccA		snail family zinc finger 3							58	70	66					16																	88747821		2198	4299	6497	SO:0001819	synonymous_variant	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747821C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.378G>A	16.37:g.88747821C>T						SNAI3-AS1_ENST00000563261.1_RNA	p.P126P	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	464	-			126					Q86SU5	Silent	SNP	ENST00000332281.5	37	c.378G>A	CCDS32505.1																																																																																				0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			48	827	0	0	0	1	0	48	827					T	88747821	C	T	88747821	2	4	79	1	0	0	0	0	0	0	0	1	14878	871	31	1		1	SNAI3	16	88747821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	88747821	1606932	16622	26939											
CTU2	9780	broad.mit.edu	37	chr16	88779151	88779151	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgctgggggccggggGtggtcctggcccgactcaag	19	11	1	0	rs148549191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88779151G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000312060.5_Missense_Mutation_p.G192D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D|CTU2_ENST00000567949.1_Missense_Mutation_p.G263D	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGGGCCGGGGGTGGTCCTGGC	0.692																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(787-789)gGt>gAt		cytosolic thiouridylase subunit 2 homolog (S. pombe)							16	21	19					16																	88779151		2189	4291	6480	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88779151G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779151G>A						CTU2_ENST00000312060.5_Missense_Mutation_p.G192D|CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D	p.G263D			Q2VPK5	CTU2_HUMAN			7	797	+			192					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.788G>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149695	0.21288	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17854	2.25;2.52;2.52	3.92	-3.67	0.04476	.	0.152892	0.42682	D	0.000675	T	0.06735	0.0172	N	0.13043	0.29	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.22977	-1.0201	10	0.27082	T	0.32	.	5.9226	0.19091	0.2995:0.2982:0.4022:0.0	.	105;192;192	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	D	105;192;192	ENSP00000367635:G105D;ENSP00000308617:G192D;ENSP00000388320:G192D	ENSP00000308617:G192D	G	+	2	0	CTU2	87306652	0.523000	0.26274	0.000000	0.03702	0.002000	0.02628	0.565000	0.23578	-0.703000	0.05049	-0.312000	0.09012	GGT		0.692	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		36	164	0	0	0	1	0	36	164					A	88779151	G	A	88779151	1	1	79	0	1	0	0	0	0	0	0	0	4059	1261	44	2		2	CTU2	16	88779151	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31330	88779151	1575602	16623	26940											
CDT1	353	broad.mit.edu	37	chr16	88872999	88872999	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgacatcgagccggccGcgctgccccagccacccgcc	10	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88872999G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.A347T	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGAGCCGGCCGCGCTGCCCCA	0.692																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1039-1041)Gcg>Acg		chromatin licensing and DNA replication factor 1							14	17	16					16																	88872999		2174	4281	6455	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88872999G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88872999G>A							p.A347T	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	7	1658	+			347					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1039G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951065	0.18431	.	.	ENSG00000167513	ENST00000301019	T	0.30182	1.54	4.97	3.95	0.45737	.	0.745843	0.12753	N	0.441992	T	0.19644	0.0472	N	0.24115	0.695	0.09310	N	1	B	0.33073	0.396	B	0.21708	0.036	T	0.06826	-1.0805	10	0.26408	T	0.33	.	14.4075	0.67093	0.0:0.1486:0.8514:0.0	.	347	Q9H211	CDT1_HUMAN	T	347	ENSP00000301019:A347T	ENSP00000301019:A347T	A	+	1	0	CDT1	87400500	0.995000	0.38212	0.252000	0.24328	0.006000	0.05464	2.228000	0.42981	2.308000	0.77769	0.462000	0.41574	GCG		0.692	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		27	99	0	0	0	1	0	27	99					A	88872999	G	A	88872999	1	1	79	0	1	0	0	0	0	0	0	0	3189	1087	38	1		1	CDT1	16	88872999	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93848	88872999	1481754	16624	26941											
TRAPPC2L	51693	broad.mit.edu	37	chr16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattaccccctctacattcGcagcacccctacggagaacg	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000301021.3	+	2	118	c.53G>A	c.(52-54)cGc>cAc	p.R18H	GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000567895.1_Intron|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000561840.1_Intron			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	18					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCTACATTCGCAGCACCCCT	0.557											OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000565504.1																			0				lung(4)|pancreas(1)|skin(1)	6						c.(52-54)cGc>cAc		trafficking protein particle complex 2-like							166	147	154					16																	88925046		2198	4300	6498	SO:0001583	missense	51693				ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		g.chr16:88925046G>A	BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.53G>A	16.37:g.88925046G>A	ENSP00000301021:p.Arg18His		OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1263	TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.R18H	p.R18H			Q9UL33	TPC2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	77	+			18					B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	ENST00000301021.3	37	c.53G>A	CCDS10971.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214329	0.39102	.	.	ENSG00000167515	ENST00000301021	D	0.83250	-1.7	5.23	5.23	0.72850	Longin-like (1);	0.055567	0.64402	N	0.000001	T	0.77785	0.4182	L	0.50333	1.59	0.80722	D	1	B;B	0.32573	0.084;0.376	B;B	0.30572	0.016;0.117	T	0.75833	-0.3178	10	0.35671	T	0.21	-13.922	13.1498	0.59482	0.0783:0.0:0.9217:0.0	.	18;18	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	H	18	ENSP00000301021:R18H	ENSP00000301021:R18H	R	+	2	0	TRAPPC2L	87452547	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	4.661000	0.61518	2.602000	0.87976	0.655000	0.94253	CGC		0.557	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	NM_016209		269	743	0	0	0	1	0	269	743					A	88925046	G	A	88925046	3	1	79	1	0	0	0	0	1	0	0	0	16512	1087	38	1	59	1	TRAPPC2L	16	88925046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52047	88925046	1429707	16625	26942											
CBFA2T3	863	broad.mit.edu	37	chr16	88945800	88945800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctcgtgcgctttgcGctccgcgtccgacacggctt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88945800G>A	ENST00000268679.4	-	11	1936	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	514					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCGCTTTGCGCTCCGCGTCC	0.662			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1540-1542)Cgc>Tgc		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							82	69	73					16																	88945800		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945800G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1540C>T	16.37:g.88945800G>A	ENSP00000268679:p.Arg514Cys					CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C	p.R514C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	1936	-			514					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1540C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469413	0.63625	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.954	T	0.70920	-0.4741	10	0.87932	D	0	-21.2643	17.6401	0.88133	0.0:0.0:1.0:0.0	.	514;428	O75081;O75081-2	MTG16_HUMAN;.	C	428;514;476;438;428	ENSP00000332122:R428C;ENSP00000268679:R514C;ENSP00000395739:R476C;ENSP00000401254:R438C;ENSP00000353449:R428C	ENSP00000268679:R514C	R	-	1	0	CBFA2T3	87473301	1.000000	0.71417	0.743000	0.31040	0.208000	0.24298	5.889000	0.69766	2.145000	0.66743	0.462000	0.41574	CGC		0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		8	369	0	0	0	1	0	8	369					A	88945800	G	A	88945800	3	1	79	1	0	0	0	0	1	0	0	0	2705	1087	38	1	429	1	CBFA2T3	16	88945800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20754	88945800	1408953	16626	26943											
CBFA2T3	863	broad.mit.edu	37	chr16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctctcgtagctcccGggggtctgggtggcggtagg	19	10	2	0	rs377163386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1087-1089)Cgg>Tgg		core-binding factor, runt domain, alpha subunit 2; translocated to, 3		G	TRP/ARG,TRP/ARG	0,4378		0,0,2189	59	55	56		1087,829	4.1	1	16		56	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	CBFA2T3	NM_005187.5,NM_175931.2	101,101	0,1,6480	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	363/654,277/568	88951484	1,12961	2189	4292	6481	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88951484G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1087C>T	16.37:g.88951484G>A	ENSP00000268679:p.Arg363Trp					RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W	p.R363W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	7	1483	-			363			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1087C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133312	0.56828	0.0	1.16E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.57273	1.04;0.41;0.69;1.04;1.04	4.12	4.12	0.48240	.	0.331834	0.26719	N	0.022859	T	0.69931	0.3166	M	0.78637	2.42	0.47905	D	0.999547	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.60415	0.874;0.614;0.762;0.858	T	0.76457	-0.2952	10	0.87932	D	0	-13.385	16.5087	0.84278	0.0:0.0:1.0:0.0	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	277;363;325;287;277	ENSP00000332122:R277W;ENSP00000268679:R363W;ENSP00000395739:R325W;ENSP00000401254:R287W;ENSP00000353449:R277W	ENSP00000268679:R363W	R	-	1	2	CBFA2T3	87478985	1.000000	0.71417	0.967000	0.41034	0.075000	0.17131	1.216000	0.32443	2.282000	0.76494	0.561000	0.74099	CGG		0.687	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		69	158	0	0	0	1	0	69	158					A	88951484	G	A	88951484	3	1	79	1	0	0	0	0	1	0	0	0	2705	1115	39	1	898	1	CBFA2T3	16	88951484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5684	88951484	1403269	16627	26944											
ACSF3	197322	broad.mit.edu	37	chr16	89167209	89167209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccccagtggcccgctcGgacaggagcgccccggtgtt	14	16	0	0	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000317447.4	+	3	497	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(118-120)tcG>tcA		acyl-CoA synthetase family member 3							23	27	26					16																	89167209		2196	4297	6493	SO:0001819	synonymous_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167209G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.120G>A	16.37:g.89167209G>A						ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	p.S40S	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	497	+			40					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	c.120G>A	CCDS10974.1																																																																																				0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		64	260	0	0	0	1	0	64	260					A	89167209	G	A	89167209	2	1	79	1	0	0	0	0	0	0	0	1	176	1103	39	1		1	ACSF3	16	89167209	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215725	89167209	1187544	16628	26945											
ACSF3	197322	broad.mit.edu	37	chr16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttattcccgcagccttcGcctgtcccaggagatctgca	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000317447.4	+	3	607	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	77					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(229-231)cGc>cAc		acyl-CoA synthetase family member 3							39	40	39					16																	89167319		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167319G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.230G>A	16.37:g.89167319G>A	ENSP00000320646:p.Arg77His					ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	p.R77H	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	607	+			77					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.230G>A	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951502	0.18431	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.51071	0.72;0.72;0.72	5.27	2.27	0.28462	AMP-dependent synthetase/ligase (1);	0.754413	0.13650	N	0.372372	T	0.49253	0.1546	M	0.87682	2.9	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.49808	-0.8900	10	0.49607	T	0.09	-11.1186	5.0448	0.14477	0.3073:0.1421:0.5507:0.0	.	77	Q4G176	ACSF3_HUMAN	H	77	ENSP00000320646:R77H;ENSP00000440734:R77H;ENSP00000384627:R77H	ENSP00000320646:R77H	R	+	2	0	ACSF3	87694820	0.002000	0.14202	0.222000	0.23844	0.268000	0.26511	1.032000	0.30178	0.235000	0.21160	0.655000	0.94253	CGC		0.652	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		55	288	0	0	0	1	0	55	288					A	89167319	G	A	89167319	3	1	79	1	0	0	0	0	1	0	0	0	176	1087	38	1	232	1	ACSF3	16	89167319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	89167319	1187434	16629	26946											
ACSF3	197322	broad.mit.edu	37	chr16	89167347	89167347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatctgcaggctctgCgggtgtgtcggcggggacct	18	10	2	1	rs560101290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000317447.4	+	3	635	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	86					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15196	0.0		0.0	False		,,,				2504	0.001					ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(256-258)tgC>tgT		acyl-CoA synthetase family member 3							43	44	44					16																	89167347		2198	4299	6497	SO:0001819	synonymous_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167347C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.258C>T	16.37:g.89167347C>T						ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	p.C86C	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	635	+			86					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	c.258C>T	CCDS10974.1																																																																																				0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		24	359	0	0	0	1	0	24	359					T	89167347	C	T	89167347	2	4	79	1	0	0	0	0	0	0	0	1	176	776	27	1		1	ACSF3	16	89167347	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	89167347	1187406	16630	26947											
ACSF3	197322	broad.mit.edu	37	chr16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctaacgatgcctcctacGtcgtggcccagtgggcgtca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000317447.4	+	3	702	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	109					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(325-327)Gtc>Atc		acyl-CoA synthetase family member 3							85	72	76					16																	89167414		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167414G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.325G>A	16.37:g.89167414G>A	ENSP00000320646:p.Val109Ile					ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	p.V109I	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	702	+			109					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.325G>A	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946386	0.53079	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.163204	0.56097	D	0.000040	T	0.54532	0.1864	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.51356	-0.8716	10	0.41790	T	0.15	-40.9689	18.891	0.92403	0.0:0.0:1.0:0.0	.	109	Q4G176	ACSF3_HUMAN	I	109	ENSP00000320646:V109I;ENSP00000440734:V109I;ENSP00000384627:V109I	ENSP00000320646:V109I	V	+	1	0	ACSF3	87694915	1.000000	0.71417	0.113000	0.21522	0.035000	0.12851	4.632000	0.61311	2.460000	0.83146	0.655000	0.94253	GTC		0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		18	150	0	0	0	1	0	18	150					A	89167414	G	A	89167414	3	1	79	1	0	0	0	0	1	0	0	0	176	1145	40	1	327	1	ACSF3	16	89167414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	89167414	1187339	16631	26948											
CDH15	1013	broad.mit.edu	37	chr16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccccgctgcaggcggCtgcccttagggctgagcggg	18	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1051-1053)gCt>gAt		cadherin 15, type 1, M-cadherin (myotubule)							26	26	26					16																	89256724		2194	4297	6491	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256724C>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1052C>A	16.37:g.89256724C>A	ENSP00000289746:p.Ala351Asp						p.A351D	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1117	+			351			Cadherin 3.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1052C>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333505	0.24167	.	.	ENSG00000129910	ENST00000289746	T	0.50277	0.75	4.37	2.29	0.28610	Cadherin (4);Cadherin-like (1);	0.785759	0.10424	U	0.676280	T	0.36963	0.0986	N	0.26042	0.785	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.15037	-1.0451	10	0.36615	T	0.2	.	8.5853	0.33655	0.0:0.7586:0.1529:0.0885	.	351	P55291	CAD15_HUMAN	D	351	ENSP00000289746:A351D	ENSP00000289746:A351D	A	+	2	0	CDH15	87784225	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	2.379000	0.44318	0.832000	0.34804	0.555000	0.69702	GCT		0.627	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		40	92	1	0	1.59932e-28	1	1.86161e-28	40	92					A	89256724	C	A	89256724	3	1	79	1	0	0	0	0	1	0	0	0	3109	797	28	3	1082	3	CDH15	16	89256724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89310	89256724	1098029	16632	26949											
CDH15	1013	broad.mit.edu	37	chr16	89256765	89256765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccaaggtccgcgtgCatgtgcaggacaccaacgag	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256765C>T	ENST00000289746.2	+	8	1158	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCCGCGTGCATGTGCAGGA	0.652																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1093-1095)Cat>Tat		cadherin 15, type 1, M-cadherin (myotubule)							41	39	40					16																	89256765		2196	4299	6495	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256765C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1093C>T	16.37:g.89256765C>T	ENSP00000289746:p.His365Tyr						p.H365Y	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1158	+			365			Cadherin 3.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1093C>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117686	0.08881	.	.	ENSG00000129910	ENST00000289746	T	0.51817	0.69	4.37	-0.792	0.10925	Cadherin (4);Cadherin-like (2);	1.865220	0.03230	U	0.178773	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.28744	-1.0034	10	0.66056	D	0.02	.	1.7201	0.02910	0.3857:0.3398:0.1466:0.1279	.	365	P55291	CAD15_HUMAN	Y	365	ENSP00000289746:H365Y	ENSP00000289746:H365Y	H	+	1	0	CDH15	87784266	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-1.673000	0.01951	0.176000	0.19873	0.555000	0.69702	CAT		0.652	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		8	138	0	0	0	1	0	8	138					T	89256765	C	T	89256765	3	4	79	1	0	0	0	0	1	0	0	0	3109	710	25	2	1123	2	CDH15	16	89256765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	89256765	1097988	16633	26950											
CDH15	1013	broad.mit.edu	37	chr16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcagagggggcacccccaGgcactctggtggccaccttc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1171-1173)Ggc>Tgc		cadherin 15, type 1, M-cadherin (myotubule)							25	24	24					16																	89256843		2194	4296	6490	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256843G>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1171G>T	16.37:g.89256843G>T	ENSP00000289746:p.Gly391Cys						p.G391C	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1236	+			391			Cadherin 4.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1171G>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697553	0.48307	.	.	ENSG00000129910	ENST00000289746	T	0.70399	-0.48	4.52	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000070	D	0.87111	0.6096	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90522	0.4489	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	391	P55291	CAD15_HUMAN	C	391	ENSP00000289746:G391C	ENSP00000289746:G391C	G	+	1	0	CDH15	87784344	1.000000	0.71417	0.134000	0.22075	0.003000	0.03518	7.457000	0.80775	2.064000	0.61679	0.455000	0.32223	GGC		0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		23	70	1	0	1.22574e-08	1	1.28258e-08	23	70					T	89256843	G	T	89256843	3	4	79	1	0	0	0	0	1	0	0	0	3109	1000	35	3	1201	3	CDH15	16	89256843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	89256843	1097910	16634	26951											
ANKRD11	29123	broad.mit.edu	37	chr16	89341252	89341252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcatgttgtagacctcGgagtccagcagcatcgtgca	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2561					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTAGACCTCGGAGTCCAGCA	0.647																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7681-7683)tcC>tcT		ankyrin repeat domain 11							59	58	58					16																	89341252		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341252G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7683C>T	16.37:g.89341252G>A						ANKRD11_ENST00000378330.2_Silent_p.S2561S	p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8143	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2561					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7683C>T	CCDS32513.1																																																																																				0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		119	352	0	0	0	1	0	119	352					A	89341252	G	A	89341252	2	1	79	1	0	0	0	0	0	0	0	1	639	1103	39	1		1	ANKRD11	16	89341252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84409	89341252	1013501	16635	26952											
ANKRD11	29123	broad.mit.edu	37	chr16	89341273	89341273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtccagcagcatcgtgcaGgcgctgaatggcactgcctg	14	12	0	1	rs139657234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2554					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATCGTGCAGGCGCTGAATG	0.622																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7660-7662)gcC>gcA		ankyrin repeat domain 11							64	60	61					16																	89341273		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341273G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7662C>A	16.37:g.89341273G>T						ANKRD11_ENST00000378330.2_Silent_p.A2554A	p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8122	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2554					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7662C>A	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	445	1	0	1.5739e-10	1	1.67034e-10	16	445					T	89341273	G	T	89341273	2	4	79	1	0	0	0	0	0	0	0	1	639	987	35	3		3	ANKRD11	16	89341273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	89341273	1013480	16636	26953											
ANKRD11	29123	broad.mit.edu	37	chr16	89345738	89345738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctcccgcgtctgctgCgtggacgtgttcagctgctg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2404					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCTGCTGCGTGGACGTGT	0.682																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7210-7212)acG>acA		ankyrin repeat domain 11							19	18	18					16																	89345738		2195	4299	6494	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89345738C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7212G>A	16.37:g.89345738C>T						ANKRD11_ENST00000378330.2_Silent_p.T2404T	p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7672	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2404					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7212G>A	CCDS32513.1																																																																																				0.682	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		20	148	0	0	0	1	0	20	148					T	89345738	C	T	89345738	2	4	79	1	0	0	0	0	0	0	0	1	639	755	27	1		1	ANKRD11	16	89345738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4465	89345738	1009015	16637	26954											
ANKRD11	29123	broad.mit.edu	37	chr16	89346638	89346638	+	Silent	SNP	G	G	A													tgagacaggccgcggctgccGtccaggaagctattttccag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2104	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D2104D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCGGCTGCCGTCCAGGAAGC	0.726																																						ENST00000301030.4																			1	Substitution - coding silent(1)	p.D2104D(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6310-6312)gaC>gaT		ankyrin repeat domain 11																																				SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89346638G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6312C>T	16.37:g.89346638G>A						ANKRD11_ENST00000378330.2_Silent_p.D2104D	p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6772	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2104			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.6312C>T	CCDS32513.1																																																																																				0.726	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		59	147	0	0	0	1	0	59	147					A	89346638	G	A	89346638	2	1	79	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89346638	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	900	89346638	1008115	16638	26955	173	2									
ANKRD11	29123	broad.mit.edu	37	chr16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T													caggccgcggctgccgtccaGgaagctattttccaggggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2103	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCCGTCCAGGAAGCTATTT	0.716																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6307-6309)Ctg>Atg		ankyrin repeat domain 11							8	11	10					16																	89346643		1962	3938	5900	SO:0001583	missense	29123					nucleus		g.chr16:89346643G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6307C>A	16.37:g.89346643G>T	ENSP00000301030:p.Leu2103Met					ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6767	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2103			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.6307C>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969239	0.34754	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	5.29	3.06	0.35304	.	0.510157	0.17790	N	0.161903	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.10989	-1.0606	10	0.33141	T	0.24	.	3.321	0.07050	0.1492:0.0:0.3929:0.4579	.	2103	Q6UB99	ANR11_HUMAN	M	2103	ENSP00000301030:L2103M;ENSP00000367581:L2103M	ENSP00000301030:L2103M	L	-	1	2	ANKRD11	87874144	0.995000	0.38212	1.000000	0.80357	0.343000	0.28985	0.831000	0.27476	2.475000	0.83589	0.450000	0.29827	CTG		0.716	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	184	1	0	3.83957e-06	1	3.94984e-06	25	184					T	89346643	G	T	89346643	3	4	79	1	0	0	0	0	1	0	0	0	639	991	35	3	1704	3	ANKRD11	16	89346643	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	89346643	1008110	16639	26956	173	2									
ANKRD11	29123	broad.mit.edu	37	chr16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggatgatggcggccgtcGcctgctggtcctcggaggtg	20	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5755-5757)gCg>gTg		ankyrin repeat domain 11							19	24	22					16																	89347194		2159	4237	6396	SO:0001583	missense	29123					nucleus		g.chr16:89347194G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5756C>T	16.37:g.89347194G>A	ENSP00000301030:p.Ala1919Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6216	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1919			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5756C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	ANKRD11	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG		0.677	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		61	334	0	0	0	1	0	61	334					A	89347194	G	A	89347194	3	1	79	1	0	0	0	0	1	0	0	0	639	1087	38	1	2255	1	ANKRD11	16	89347194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551	89347194	1007559	16640	26957											
ANKRD11	29123	broad.mit.edu	37	chr16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagccacggagaacctgtCgaaaaaggagggggagcagg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1762					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGAACCTGTCGAAAAAGGAG	0.637																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5284-5286)Gac>Aac		ankyrin repeat domain 11							40	42	42					16																	89347666		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89347666C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5284G>A	16.37:g.89347666C>T	ENSP00000301030:p.Asp1762Asn					ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5744	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1762					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5284G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299473	0.81136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43294	0.95;0.95	4.9	4.9	0.64082	.	0.226096	0.35436	N	0.003218	T	0.30665	0.0772	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.23574	0.047	T	0.30149	-0.9988	10	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1762	Q6UB99	ANR11_HUMAN	N	1762	ENSP00000301030:D1762N;ENSP00000367581:D1762N	ENSP00000301030:D1762N	D	-	1	0	ANKRD11	87875167	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	4.278000	0.58946	2.266000	0.75297	0.457000	0.33378	GAC		0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		121	352	0	0	0	1	0	121	352					T	89347666	C	T	89347666	3	4	79	1	0	0	0	0	1	0	0	0	639	884	31	1	2727	1	ANKRD11	16	89347666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472	89347666	1007087	16641	26958											
ANKRD11	29123	broad.mit.edu	37	chr16	89348197	89348197	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctgggacagcatccTctcgaagctggtcatcatca	9	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1585	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCATCCTCTCGAAGCTG	0.597																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4753-4755)Agg>Cgg		ankyrin repeat domain 11							76	69	72					16																	89348197		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348197T>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4753A>C	16.37:g.89348197T>G						ANKRD11_ENST00000378330.2_Silent_p.R1585R	p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5213	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1585			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4753A>C	CCDS32513.1																																																																																				0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		19	464	0	0	0	1	0	19	464					G	89348197	T	G	89348197	2	3	79	1	0	0	0	0	0	0	0	1	639	1550	54	4		4	ANKRD11	16	89348197	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	89348197	1006556	16642	26959											
ANKRD11	29123	broad.mit.edu	37	chr16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcatgcctgtcccggtGcctctccttctcgtctctcc	7	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1476	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTCCCGGTGCctctccttc	0.552																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4426-4428)Cac>Tac		ankyrin repeat domain 11							101	60	74					16																	89348524		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348524G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4426C>T	16.37:g.89348524G>A	ENSP00000301030:p.His1476Tyr					ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4886	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1476			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4426C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397951	0.25205	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	.	0.312185	0.31847	N	0.006979	T	0.36690	0.0976	L	0.55103	1.725	0.80722	D	1	P	0.45283	0.855	B	0.37650	0.255	T	0.40251	-0.9573	10	0.62326	D	0.03	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	1476	Q6UB99	ANR11_HUMAN	Y	1476	ENSP00000301030:H1476Y;ENSP00000367581:H1476Y	ENSP00000301030:H1476Y	H	-	1	0	ANKRD11	87876025	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	5.766000	0.68843	2.530000	0.85305	0.563000	0.77884	CAC		0.552	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		60	236	0	0	0	1	0	60	236					A	89348524	G	A	89348524	3	1	79	1	0	0	0	0	1	0	0	0	639	1319	46	2	3585	2	ANKRD11	16	89348524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	89348524	1006229	16643	26960											
ANKRD11	29123	broad.mit.edu	37	chr16	89349137	89349137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccgcgtcggcacttctCgaggacttcctctccttgga	9	14	2	0	rs368590420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1271	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCACTTCTCGAGGACTTCC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19547	0.0		0.001	False		,,,				2504	0.0					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3811-3813)tcG>tcA		ankyrin repeat domain 11		C		1,4395	2.1+/-5.4	0,1,2197	63	66	65		3813	-10.6	0	16		65	0,8600		0,0,4300	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1271/2664	89349137	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89349137C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3813G>A	16.37:g.89349137C>T						ANKRD11_ENST00000378330.2_Silent_p.S1271S	p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4273	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1271			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.3813G>A	CCDS32513.1																																																																																				0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		83	427	0	0	0	1	0	83	427					T	89349137	C	T	89349137	2	4	79	1	0	0	0	0	0	0	0	1	639	871	31	1		1	ANKRD11	16	89349137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613	89349137	1005616	16644	26961											
ANKRD11	29123	broad.mit.edu	37	chr16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaatcttccctataaAccttttcttttttgagtttt	4	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	807	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCTATAAACCTTTTCTTT	0.313																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2419-2421)gTt>gGt		ankyrin repeat domain 11							37	40	39					16																	89350530		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350530A>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2420T>G	16.37:g.89350530A>C	ENSP00000301030:p.Val807Gly					ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2880	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	807			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2420T>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.971	-0.700084	0.03279	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.66	-0.892	0.10570	.	0.755412	0.12064	N	0.502858	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25882	-1.0119	10	0.15952	T	0.53	.	6.1812	0.20472	0.3566:0.366:0.2774:0.0	.	426;807	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	807;807;426	ENSP00000301030:V807G;ENSP00000367581:V807G	ENSP00000301030:V807G	V	-	2	0	ANKRD11	87878031	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	0.721000	0.25911	-0.456000	0.07043	-0.441000	0.05720	GTT		0.313	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	185	0	0	0	1	0	10	185					C	89350530	A	C	89350530	3	2	79	1	0	0	0	0	1	0	0	0	639	43	2	4	5591	4	ANKRD11	16	89350530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1393	89350530	1004223	16645	26962											
ANKRD11	29123	broad.mit.edu	37	chr16	89357207	89357207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctgacacactgtagActgggaggggtgctttggtg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89357207A>G	ENST00000301030.4	-	6	887	c.427T>C	c.(427-429)Tct>Cct	p.S143P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	143					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACACTGTAGACTGGGAGGGG	0.557																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(427-429)Tct>Cct		ankyrin repeat domain 11							85	85	85					16																	89357207		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89357207A>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.427T>C	16.37:g.89357207A>G	ENSP00000301030:p.Ser143Pro					ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	887	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	143					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.427T>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234037	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.41758	0.99;0.99	5.3	4.18	0.49190	.	0.061993	0.64402	D	0.000003	T	0.54679	0.1873	L	0.43152	1.355	0.80722	D	1	D;P;D	0.71674	0.998;0.492;0.99	D;B;D	0.77557	0.99;0.287;0.972	T	0.55673	-0.8104	10	0.72032	D	0.01	.	12.1198	0.53885	0.8237:0.1763:0.0:0.0	.	143;157;143	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	P	143;143;157	ENSP00000301030:S143P;ENSP00000367581:S143P	ENSP00000301030:S143P	S	-	1	0	ANKRD11	87884708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.796000	0.62496	0.890000	0.36211	0.459000	0.35465	TCT		0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	721	0	0	0	1	0	25	721					G	89357207	A	G	89357207	3	3	79	1	0	0	0	0	1	0	0	0	639	275	10	4	7596	4	ANKRD11	16	89357207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6677	89357207	997546	16646	26963											
ANKRD11	29123	broad.mit.edu	37	chr16	89371699	89371699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccctcacctccttcccGccatcgccacgctccagttt	5	22	1	0	rs200889723		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Silent_p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	47					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G47G(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTTCCCGCCATCGCCAC	0.557																																						ENST00000301030.4																			1	Substitution - coding silent(1)	p.G47G(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(139-141)ggC>ggT		ankyrin repeat domain 11							67	65	66					16																	89371699		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89371699G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.141C>T	16.37:g.89371699G>A						ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Silent_p.G47G	p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	4	601	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	47					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.141C>T	CCDS32513.1																																																																																				0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		100	272	0	0	0	1	0	100	272					A	89371699	G	A	89371699	2	1	79	1	0	0	0	0	0	0	0	1	639	1074	38	1		1	ANKRD11	16	89371699	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14492	89371699	983054	16647	26964											
SPG7	6687	broad.mit.edu	37	chr16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcgatgagatcgacgCggtgggcaagaagcgctcca	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_ENST00000341316.2_Missense_Mutation_p.A412V|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	412					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1234-1236)gCg>gTg		spastic paraplegia 7 (pure and complicated autosomal recessive)							43	44	44					16																	89598955		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598955C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1235C>T	16.37:g.89598955C>T	ENSP00000268704:p.Ala412Val					SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	p.A412V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1250	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	412					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1235C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747758	0.89663	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94138	-3.36;-3.36	5.45	5.45	0.79879	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.048162	0.85682	D	0.000000	D	0.96781	0.8949	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97102	0.9798	10	0.87932	D	0	-1.6581	19.3347	0.94312	0.0:1.0:0.0:0.0	.	412;412	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	V	412	ENSP00000268704:A412V;ENSP00000341157:A412V	ENSP00000268704:A412V	A	+	2	0	SPG7	88126456	1.000000	0.71417	0.235000	0.24058	0.352000	0.29268	7.455000	0.80726	2.571000	0.86741	0.456000	0.33151	GCG		0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		74	347	0	0	0	1	0	74	347					T	89598955	C	T	89598955	3	4	79	1	0	0	0	0	1	0	0	0	15096	768	27	1	1269	1	SPG7	16	89598955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227256	89598955	755798	16648	26965											
SPG7	6687	broad.mit.edu	37	chr16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacccctcggacaaacgccGccctgggctttgctcagatg	10	15	1	1	rs370852816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	603			A -> T. {ECO:0000269|PubMed:16534102}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1807-1809)Gcc>Acc		spastic paraplegia 7 (pure and complicated autosomal recessive)		G	THR/ALA	0,4396		0,0,2198	67	56	60		1807	5.8	0.2	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPG7	NM_003119.2	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	603/796	89619414	1,12995	2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89619414G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1807G>A	16.37:g.89619414G>A	ENSP00000268704:p.Ala603Thr						p.A603T	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	14	1822	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	603		A -> T.			O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1807G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360229	0.82353	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.87103	-2.21	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.86864	2.845	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.94351	0.7579	10	0.87932	D	0	1.556	20.1278	0.97990	0.0:0.0:1.0:0.0	.	603	Q9UQ90	SPG7_HUMAN	T	603;193	ENSP00000268704:A603T	ENSP00000268704:A603T	A	+	1	0	SPG7	88146915	1.000000	0.71417	0.206000	0.23566	0.184000	0.23303	7.745000	0.85046	2.768000	0.95171	0.561000	0.74099	GCC		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		40	141	0	0	0	1	0	40	141					A	89619414	G	A	89619414	3	1	79	1	0	0	0	0	1	0	0	0	15096	1087	38	1	2011	1	SPG7	16	89619414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20459	89619414	735339	16649	26966											
DPEP1	1800	broad.mit.edu	37	chr16	89703612	89703612	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagccctgtcttcccagCgtgtggtgaaggagctgaac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	198					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.e7-1		dipeptidase 1 (renal)	Cilastatin(DB01597)						60	64	63					16																	89703612		2194	4292	6486	SO:0001630	splice_region_variant	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703612C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.592-1C>T	16.37:g.89703612C>T						DPEP1_ENST00000421184.1_Splice_Site_p.R198_splice|DPEP1_ENST00000261615.4_Splice_Site_p.R198_splice	p.R198_splice	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	883	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	198					D3DX80|Q96AK2	Splice_Site	SNP	ENST00000393092.3	37	c.591_splice	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447057	0.84101	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.14	-4.67	0.03319	.	0.985709	0.08297	N	0.967567	T	0.40398	0.1115	M	0.74881	2.28	0.32834	D	0.504453	D	0.89917	1.0	D	0.68039	0.955	T	0.56884	-0.7905	9	.	.	.	-5.7528	4.4237	0.11493	0.3622:0.413:0.1444:0.0804	.	198	P16444	DPEP1_HUMAN	C	198	ENSP00000397313:R198C;ENSP00000376807:R198C;ENSP00000261615:R198C	.	R	+	1	0	DPEP1	88231113	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-1.050000	0.03510	-0.492000	0.06687	0.436000	0.28706	CGT		0.652	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141	Missense_Mutation	15	411	0	0	0	1	0	15	411					T	89703612	C	T	89703612	5	4	79	1	0	0	0	0	0	0	1	0	4729	782	27	1	614	1	DPEP1	16	89703612	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84198	89703612	651141	16650	26967											
CHMP1A	5119	broad.mit.edu	37	chr16	89712332	89712332	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacaaccctaaggccacGcaggcctggcaggtgagaga	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712332G>A	ENST00000397901.3	-	0	989				CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.A238V|CHMP1A_ENST00000535997.2_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CTAAGGCCACGCAGGCCTGGC	0.607																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(712-714)gCg>gTg		charged multivesicular body protein 1A							49	61	57					16																	89712332		2020	4161	6181	SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712332G>A	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*142C>T	16.37:g.89712332G>A						CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	p.A238V	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	845	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.713C>T	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683188	0.14907	.	.	ENSG00000131165	ENST00000253475	.	.	.	2.63	-1.04	0.10068	.	3.116920	0.01969	U	0.043940	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.006;0.029	B;B	0.09377	0.003;0.004	T	0.29852	-0.9998	9	0.87932	D	0	14.5226	6.4226	0.21752	0.3913:0.3273:0.2814:0.0	.	238;330	A6NG32;D3DX81	.;.	V	238	.	ENSP00000253475:A238V	A	-	2	0	CHMP1A	88239833	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.320000	0.02700	-0.338000	0.08413	-0.256000	0.11100	GCG		0.607	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		21	114	0	0	0	1	0	21	114					A	89712332	G	A	89712332	1	1	79	0	1	0	0	0	0	0	0	0	3361	1087	38	1		1	CHMP1A	16	89712332	3'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8720	89712332	642421	16651	26968											
CHMP1A	5119	broad.mit.edu	37	chr16	89712424	89712424	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggggagaggacaggaGccttccagcacatcacgggg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712424G>A	ENST00000397901.3	-	0	897				CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000253475.5_Silent_p.G207G|CHMP1A_ENST00000535997.2_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGACAGGAGCCTTCCAGCA	0.677																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(619-621)ggC>ggT		charged multivesicular body protein 1A							43	54	50					16																	89712424		2083	4199	6282	SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712424G>A	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*50C>T	16.37:g.89712424G>A						CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	p.G207G	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	753	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Silent	SNP	ENST00000397901.3	37	c.621C>T	CCDS45552.1																																																																																				0.677	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		52	141	0	0	0	1	0	52	141					A	89712424	G	A	89712424	1	1	79	0	1	0	0	0	0	0	0	0	3361	958	34	2		2	CHMP1A	16	89712424	3'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	89712424	642329	16652	26969											
C16orf55	124045	broad.mit.edu	37	chr16	89735711	89735711	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaaacctgatgtaaagCaaaagtccagcaggaagaaa	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735711C>T	ENST00000301031.4	+	3	226	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	SPATA33_ENST00000579310.1_Nonsense_Mutation_p.Q77*	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGATGTAAAGCAAAAGTCCAG	0.498																																						ENST00000301031.4																			0											c.(226-228)Caa>Taa		spermatogenesis associated 33							69	70	70					16																	89735711		2198	4300	6498	SO:0001587	stop_gained	124045							g.chr16:89735711C>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.226C>T	16.37:g.89735711C>T	ENSP00000301031:p.Gln76*					SPATA33_ENST00000579310.1_Nonsense_Mutation_p.Q77*	p.Q76*	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					3	226	+								A8WFL2|B4DZN8	Nonsense_Mutation	SNP	ENST00000301031.4	37	c.226C>T	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789969	0.50102	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	.	.	.	3.36	1.27	0.21489	.	0.972870	0.08356	N	0.958429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.8505	5.0447	0.14477	0.173:0.3363:0.4907:0.0	.	.	.	.	X	76;77	.	ENSP00000301031:Q76X	Q	+	1	0	C16orf55	88263212	0.000000	0.05858	0.275000	0.24674	0.341000	0.28922	-0.211000	0.09332	0.547000	0.28938	0.579000	0.79373	CAA		0.498	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		69	284	0	0	0	1	0	69	284					T	89735711	C	T	89735711	4	4	79	1	0	0	0	0	0	1	0	0	1825	711	25	2	236	2	C16orf55	16	89735711	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23287	89735711	619042	16653	26970											
C16orf55	124045	broad.mit.edu	37	chr16	89735829	89735829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaaccattcgggagcCggaggactggggcccctacc	15	13	0	1	rs151036541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735829C>T	ENST00000301031.4	+	3	344	c.344C>T	c.(343-345)cCg>cTg	p.P115L	SPATA33_ENST00000579310.1_Missense_Mutation_p.P116L	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	115						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATTCGGGAGCCGGAGGACTGG	0.552																																						ENST00000301031.4																			0											c.(343-345)cCg>cTg		spermatogenesis associated 33		C	LEU/PRO	0,4396		0,0,2198	64	71	68		344	-2.5	0	16	dbSNP_134	68	2,8598	3.0+/-9.4	0,2,4298	no	missense	C16orf55	NM_153025.1	98	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	115/140	89735829	2,12994	2198	4300	6498	SO:0001583	missense	124045							g.chr16:89735829C>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.344C>T	16.37:g.89735829C>T	ENSP00000301031:p.Pro115Leu					SPATA33_ENST00000579310.1_Missense_Mutation_p.P116L	p.P115L	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					3	344	+								A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	c.344C>T	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773235	0.16051	0.0	2.33E-4	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.42131	0.98	4.5	-2.49	0.06403	.	1.318630	0.05357	N	0.532915	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B;B	0.24426	0.009;0.103	B;B	0.16722	0.007;0.016	T	0.09164	-1.0687	10	0.33940	T	0.23	-1.2635	1.0228	0.01521	0.3818:0.2983:0.1761:0.1438	.	116;115	B4DZN8;Q96N06	.;CP055_HUMAN	L	115;116	ENSP00000301031:P115L	ENSP00000301031:P115L	P	+	2	0	C16orf55	88263330	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.170000	0.09897	-0.797000	0.04450	-1.748000	0.00681	CCG		0.552	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		132	430	0	0	0	1	0	132	430					T	89735829	C	T	89735829	3	4	79	1	0	0	0	0	1	0	0	0	1825	652	23	1	354	1	C16orf55	16	89735829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	89735829	618924	16654	26971											
CDK10	8558	broad.mit.edu	37	chr16	89758865	89758865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgcacaggtcaagtgCatcgtgctgcaggtgctccg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000353379.7	+	6	469	c.426C>T	c.(424-426)tgC>tgT	p.C142C	CDK10_ENST00000505473.1_Silent_p.C71C|CDK10_ENST00000331006.8_Silent_p.C95C	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597																																						ENST00000331006.8																			0				ovary(1)	1						c.(283-285)tgC>tgT		cyclin-dependent kinase 10							84	74	78					16																	89758865		2198	4300	6498	SO:0001819	synonymous_variant	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89758865C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.426C>T	16.37:g.89758865C>T						CDK10_ENST00000353379.7_Silent_p.C142C|CDK10_ENST00000505473.1_Silent_p.C71C	p.C95C			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	5	2026	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	142			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	c.285C>T	CCDS10984.2																																																																																				0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			92	305	0	0	0	1	0	92	305					T	89758865	C	T	89758865	2	4	79	1	0	0	0	0	0	0	0	1	3134	718	25	2		2	CDK10	16	89758865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23036	89758865	595888	16655	26972											
CDK10	8558	broad.mit.edu	37	chr16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagccaatgacccccaaGgtggtcactctctggtaagt	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000353379.7	+	8	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CDK10_ENST00000505473.1_Missense_Mutation_p.K127N|CDK10_ENST00000331006.8_Missense_Mutation_p.K151N	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607																																						ENST00000331006.8																			1	Substitution - Missense(1)	p.K198N(1)	endometrium(1)	ovary(1)	1						c.(451-453)aaG>aaT		cyclin-dependent kinase 10							69	64	65					16																	89759861		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89759861G>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.594G>T	16.37:g.89759861G>T	ENSP00000338673:p.Lys198Asn					CDK10_ENST00000353379.7_Missense_Mutation_p.K198N|CDK10_ENST00000505473.1_Missense_Mutation_p.K127N	p.K151N			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	7	2194	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	198			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.453G>T	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942347	0.18281	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.42900	0.96;0.96;0.96	4.97	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162260	0.52532	D	0.000066	T	0.18045	0.0433	N	0.05199	-0.095	0.49389	D	0.99978	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.004	T	0.05451	-1.0884	10	0.17832	T	0.49	-38.7351	6.7509	0.23487	0.3406:0.0:0.6594:0.0	.	198;127;127	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	N	151;169;127;198	ENSP00000329957:K151N;ENSP00000424415:K127N;ENSP00000338673:K198N	ENSP00000329957:K151N	K	+	3	2	CDK10	88287362	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.674000	0.46867	1.325000	0.45301	0.655000	0.94253	AAG		0.607	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			104	233	1	0	2.34548e-53	1	2.9228e-53	104	233					T	89759861	G	T	89759861	3	4	79	1	0	0	0	0	1	0	0	0	3134	991	35	3	624	3	CDK10	16	89759861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	996	89759861	594892	16656	26973											
SPATA2L	124044	broad.mit.edu	37	chr16	89764195	89764195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggctcccaggcccggccCccagtgccccacagtttggc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(820-822)ggG>ggA		spermatogenesis associated 2-like							11	13	12					16																	89764195		2167	4266	6433	SO:0001819	synonymous_variant	124044							g.chr16:89764195C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.822G>A	16.37:g.89764195C>T						SPATA2L_ENST00000335360.7_Intron	p.G274G	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	890	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	274					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.822G>A	CCDS10985.1																																																																																				0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		19	69	0	0	0	1	0	19	69					T	89764195	C	T	89764195	2	4	79	1	0	0	0	0	0	0	0	1	15061	610	22	2		2	SPATA2L	16	89764195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4334	89764195	590558	16657	26974											
SPATA2L	124044	broad.mit.edu	37	chr16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccccgctggcacgccGtgcctgcagcagctcctcag	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	186										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(556-558)Cgg>Tgg		spermatogenesis associated 2-like							11	13	13					16																	89764461		2168	4251	6419	SO:0001583	missense	124044							g.chr16:89764461G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.556C>T	16.37:g.89764461G>A	ENSP00000289805:p.Arg186Trp					SPATA2L_ENST00000335360.7_Intron	p.R186W	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	624	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	186					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.556C>T	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259451	0.59321	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.71082	0.3298	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72802	-0.4183	9	0.87932	D	0	.	11.473	0.50280	0.0:0.0:0.8048:0.1952	.	186	Q8IUW3	SPA2L_HUMAN	W	186	.	ENSP00000289805:R186W	R	-	1	2	SPATA2L	88291962	0.081000	0.21417	0.688000	0.30117	0.605000	0.37080	0.617000	0.24359	0.887000	0.36136	0.462000	0.41574	CGG		0.726	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		26	154	0	0	0	1	0	26	154					A	89764461	G	A	89764461	3	1	79	1	0	0	0	0	1	0	0	0	15061	1144	40	1	722	1	SPATA2L	16	89764461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	89764461	590292	16658	26975											
C16orf7	9605	broad.mit.edu	37	chr16	89774857	89774857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtggatgaactcctccaGggccgcgcactccgacacca	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89774857G>T	ENST00000389386.3	-	14	1904	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	VPS9D1_ENST00000561976.1_Missense_Mutation_p.L524M|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	594	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AACTCCTCCAGGGCCGCGCAC	0.647																																						ENST00000561976.1																			0											c.(1570-1572)Ctg>Atg		VPS9 domain containing 1							23	29	27					16																	89774857		2104	4217	6321	SO:0001583	missense	9605							g.chr16:89774857G>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1780C>A	16.37:g.89774857G>T	ENSP00000374037:p.Leu594Met					VPS9D1_ENST00000389386.3_Missense_Mutation_p.L594M	p.L524M							13	1947	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.1570C>A	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315701	0.40996	.	.	ENSG00000075399	ENST00000389386	T	0.32272	1.46	5.13	3.16	0.36331	Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000001	T	0.32585	0.0834	N	0.16266	0.395	0.46954	D	0.99926	D	0.89917	1.0	D	0.97110	1.0	T	0.04065	-1.0980	10	0.12103	T	0.63	-1.9553	10.4986	0.44791	0.1606:0.0:0.8394:0.0	.	594	Q9Y2B5	CP007_HUMAN	M	594	ENSP00000374037:L594M	ENSP00000374037:L594M	L	-	1	2	C16orf7	88302358	0.743000	0.28239	1.000000	0.80357	0.880000	0.50808	0.999000	0.29757	0.563000	0.29222	0.462000	0.41574	CTG		0.647	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		41	107	1	0	7.62715e-32	1	8.98937e-32	41	107					T	89774857	G	T	89774857	3	4	79	1	0	0	0	0	1	0	0	0	1833	991	35	3	123	3	C16orf7	16	89774857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10396	89774857	579896	16659	26976											
C16orf7	9605	broad.mit.edu	37	chr16	89775730	89775730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagccagtggcccccttgGcctcagggttctgggggagg	18	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89775730G>A	ENST00000389386.3	-	12	1626	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	VPS9D1_ENST00000561976.1_Missense_Mutation_p.A431V|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	501	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GGCCCCCTTGGCCTCAGGGTT	0.672																																						ENST00000561976.1																			0											c.(1291-1293)gCc>gTc		VPS9 domain containing 1							33	39	37					16																	89775730		1959	4140	6099	SO:0001583	missense	9605							g.chr16:89775730G>A	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1502C>T	16.37:g.89775730G>A	ENSP00000374037:p.Ala501Val					VPS9D1_ENST00000389386.3_Missense_Mutation_p.A501V	p.A431V							11	1669	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.1292C>T	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004764	0.07773	.	.	ENSG00000075399	ENST00000389386	T	0.30981	1.51	5.1	3.05	0.35203	Vacuolar sorting protein 9 (1);	0.353012	0.28847	N	0.013948	T	0.20210	0.0486	L	0.33485	1.01	0.22521	N	0.99903	B	0.19706	0.038	B	0.19391	0.025	T	0.16305	-1.0407	10	0.20046	T	0.44	.	8.6373	0.33957	0.0875:0.156:0.7565:0.0	.	501	Q9Y2B5	CP007_HUMAN	V	501	ENSP00000374037:A501V	ENSP00000374037:A501V	A	-	2	0	C16orf7	88303231	0.001000	0.12720	0.696000	0.30242	0.141000	0.21300	0.863000	0.27913	1.243000	0.43853	0.561000	0.74099	GCC		0.672	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		107	294	0	0	0	1	0	107	294					A	89775730	G	A	89775730	3	1	79	1	0	0	0	0	1	0	0	0	1833	1203	42	2	409	2	C16orf7	16	89775730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873	89775730	579023	16660	26977											
FANCA	2175	broad.mit.edu	37	chr16	89807275	89807275	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaaccaatagCtgtaaataaaaacgtgcact	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e38-1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							77	72	74					16																	89807275		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89807275C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3766-1G>A	16.37:g.89807275C>T						FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR		NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	38	3796	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)						A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37		CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489304	0.44249	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88334776	1.000000	0.71417	0.726000	0.30738	0.508000	0.34012	4.115000	0.57865	2.586000	0.87340	0.561000	0.74099	.		0.378	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Intron	14	119	0	0	0	1	0	14	119					T	89807275	C	T	89807275	5	4	79	1	0	0	0	0	0	0	1	0	5687	811	28	2	626	2	FANCA	16	89807275	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31545	89807275	547478	16661	26978											
FANCA	2175	broad.mit.edu	37	chr16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtgatgggctgttctGcctggaagctgctgccgcag	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1097					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3289-3291)gCa>gTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							95	66	76					16																	89815125		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89815125G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3290C>T	16.37:g.89815125G>A	ENSP00000373952:p.Ala1097Val					FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	33	3320	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1097					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3290C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976831	0.34848	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84730	-1.89	4.32	-5.26	0.02772	.	0.733388	0.12716	N	0.445132	T	0.69441	0.3111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.006;0.006	B;B;B	0.12837	0.008;0.005;0.005	T	0.56050	-0.8043	10	0.51188	T	0.08	0.0037	0.58	0.00710	0.2516:0.1259:0.2383:0.3842	.	74;1097;1097	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	V	1097;74	ENSP00000373952:A1097V	ENSP00000306281:A74V	A	-	2	0	FANCA	88342626	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.040000	0.03546	-0.628000	0.05582	0.462000	0.41574	GCA		0.592	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			46	175	0	0	0	1	0	46	175					A	89815125	G	A	89815125	3	1	79	1	0	0	0	0	1	0	0	0	5687	1319	46	2	1121	2	FANCA	16	89815125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7850	89815125	539628	16662	26979											
TCF25	22980	broad.mit.edu	37	chr16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttgggaggtcacactTtctctggaaagagcccgcca	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	508					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1522-1524)tTt>tCt		transcription factor 25 (basic helix-loop-helix)							27	28	28					16																	89971399		2193	4298	6491	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89971399T>C	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1523T>C	16.37:g.89971399T>C	ENSP00000263346:p.Phe508Ser					TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	p.F508S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	14	1579	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	508					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1523T>C	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	T	7.543	0.661108	0.14645	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	3.4	0.38934	.	0.299198	0.40554	N	0.001070	T	0.03827	0.0108	N	0.00057	-2.36	0.28664	N	0.905978	B;B	0.18013	0.021;0.025	B;B	0.13407	0.009;0.009	T	0.26677	-1.0096	9	0.17369	T	0.5	.	4.3785	0.11283	0.0:0.3371:0.0:0.6629	.	273;508	Q9H384;Q9BQ70	.;TCF25_HUMAN	S	508;273	.	ENSP00000263346:F508S	F	+	2	0	TCF25	88498900	0.249000	0.23941	1.000000	0.80357	0.774000	0.43823	0.447000	0.21710	1.000000	0.39049	0.482000	0.46254	TTT		0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		16	64	0	0	0	1	0	16	64					C	89971399	T	C	89971399	3	2	79	1	0	0	0	0	1	0	0	0	15745	1841	64	4	1577	4	TCF25	16	89971399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156274	89971399	383354	16663	26980											
TCF25	22980	broad.mit.edu	37	chr16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgaacaggctgatgCtggctgtgcgcgacatgatg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.A451D	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	647					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1939-1941)Ctg>Atg		transcription factor 25 (basic helix-loop-helix)							55	52	53					16																	89977554		2195	4297	6492	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89977554C>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1939C>A	16.37:g.89977554C>A	ENSP00000263346:p.Leu647Met					TCF25_ENST00000263347.7_Missense_Mutation_p.A451D|RP11-566K11.7_ENST00000570217.1_RNA	p.L647M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	18	1995	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	647					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1939C>A	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401336|4.401336	0.83120|0.83120	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263347|ENST00000263346	.|.	.|.	.|.	5.21|5.21	0.701|0.701	0.18104|0.18104	.|.	.|0.472377	.|0.22676	.|N	.|0.057014	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.25369|0.25369	N|N	0.988718|0.988718	B|B	0.09022|0.24675	0.002|0.109	B|B	0.10450|0.15484	0.005|0.013	T|T	0.11155|0.11155	-1.0599|-1.0599	8|9	0.87932|0.48119	D|T	0|0.1	.|.	3.7855|3.7855	0.08698|0.08698	0.1298:0.3136:0.4523:0.1044|0.1298:0.3136:0.4523:0.1044	.|.	451|647	Q9H384|Q9BQ70	.|TCF25_HUMAN	D|M	451|647	.|.	ENSP00000263347:A451D|ENSP00000263346:L647M	A|L	+|+	2|1	0|2	TCF25|TCF25	88505055|88505055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.958000|2.958000	0.49145|0.49145	0.184000|0.184000	0.20083|0.20083	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.667	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		130	285	1	0	2.67195e-58	1	3.35052e-58	130	285					A	89977554	C	A	89977554	3	1	79	1	0	0	0	0	1	0	0	0	15745	796	28	3	2009	3	TCF25	16	89977554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6155	89977554	377199	16664	26981											
TCF25	22980	broad.mit.edu	37	chr16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatggccaacttccacCtcaacgacctggaggcgccg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.P462L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	658					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1972-1974)Ctc>Ttc		transcription factor 25 (basic helix-loop-helix)							57	54	55					16																	89977587		2194	4297	6491	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89977587C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1972C>T	16.37:g.89977587C>T	ENSP00000263346:p.Leu658Phe					TCF25_ENST00000263347.7_Missense_Mutation_p.P462L|RP11-566K11.7_ENST00000570217.1_RNA	p.L658F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	18	2028	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	658					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1972C>T	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472323|3.472323	0.63737|0.63737	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	4.12|4.12	0.48240|0.48240	.|.	0.117444|.	0.64402|.	N|.	0.000008|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.01188|0.01188	-0.97|-0.97	0.32697|0.32697	N|N	0.513374|0.513374	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.08513|0.08513	-1.0718|-1.0718	9|8	0.02654|0.87932	T|D	1|0	.|.	7.251|7.251	0.26150|0.26150	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	658|462	Q9BQ70|Q9H384	TCF25_HUMAN|.	F|L	658|462	.|.	ENSP00000263346:L658F|ENSP00000263347:P462L	L|P	+|+	1|2	0|0	TCF25|TCF25	88505088|88505088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.827000|4.827000	0.62723|0.62723	0.843000|0.843000	0.35070|0.35070	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.647	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		67	435	0	0	0	1	0	67	435					T	89977587	C	T	89977587	3	4	79	1	0	0	0	0	1	0	0	0	15745	681	24	2	2042	2	TCF25	16	89977587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	89977587	377166	16665	26982											
TUBB3	10381	broad.mit.edu	37	chr16	89999002	89999002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagtcatcagtgatgaGcatggcatcgaccccagcgg	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000315491.7	+	2	204	c.81G>A	c.(79-81)gaG>gaA	p.E27E	TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000556922.1_Silent_p.E374E|TUBB3_ENST00000554444.1_5'UTR	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	27					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TCAGTGATGAGCATGGCATCG	0.607																																						ENST00000556922.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1120-1122)gaG>gaA		tubulin, beta 3 class III							88	70	76					16																	89999002		2198	4299	6497	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89999002G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.81G>A	16.37:g.89999002G>A						TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000315491.7_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E	p.E374E			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	1216	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	27					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.1122G>A	CCDS10988.1																																																																																				0.607	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		68	247	0	0	0	1	0	68	247					A	89999002	G	A	89999002	2	1	79	1	0	0	0	0	0	0	0	1	16811	962	34	2		2	TUBB3	16	89999002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	89999002	355751	16666	26983											
TUBB3	10381	broad.mit.edu	37	chr16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctcaacgctgacctgCgcaagctggccgtcaacatg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000315491.7	+	4	874	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	251					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CGCTGACCTGCGCAAGCTGGC	0.687																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(535-537)Cgc>Tgc		tubulin, beta 3 class III							44	42	43					16																	90001610		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001610C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.751C>T	16.37:g.90001610C>T	ENSP00000320295:p.Arg251Cys					TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C|TUBB3_ENST00000315491.7_Missense_Mutation_p.R251C|TUBB3_ENST00000555576.1_Intron	p.R179C			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2830	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	251					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.535C>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84873	-1.91;-1.91;-1.0;-1.91;-1.91	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000019	D	0.93926	0.8056	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	251;251	Q13509;B2RBD5	TBB3_HUMAN;.	C	598;251;179;179;179;251	ENSP00000451560:R598C;ENSP00000302777:R179C;ENSP00000450538:R179C;ENSP00000451617:R179C;ENSP00000320295:R251C	.	R	+	1	0	RP11-566K11.2;TUBB3	88529111	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.385000	0.44371	2.316000	0.78162	0.407000	0.27541	CGC		0.687	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		122	348	0	0	0	1	0	122	348					T	90001610	C	T	90001610	3	4	79	1	0	0	0	0	1	0	0	0	16811	768	27	1	765	1	TUBB3	16	90001610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2608	90001610	353143	16667	26984											
DEF8	54849	broad.mit.edu	37	chr16	90025581	90025581	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggccgagacccagaCgaggagtgaggaatgagaga	18	7	0	5	rs373389069	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90025581C>T	ENST00000268676.7	+	6	786				DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000418391.2_Nonsense_Mutation_p.R178*|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563848.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GAGACCCAGACGAGGAGTGAG	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20089	0.0		0.001	False		,,,				2504	0.0					ENST00000418391.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(532-534)Cga>Tga		differentially expressed in FDCP 8 homolog (mouse)		C	,,,,,stop/ARG,stop/ARG,stop/ARG,	1,4395	2.1+/-5.4	0,1,2197	58	61	60		,,,,,532,532,532,	-5.2	0	16		60	0,8600		0,0,4300	no	intron,intron,intron,intron,intron,stop-gained,stop-gained,stop-gained,intron	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2	,,,,,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,	,,,,,178/198,178/198,178/198,	90025581	1,12995	2198	4300	6498	SO:0001627	intron_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90025581C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.697+18C>T	16.37:g.90025581C>T						DEF8_ENST00000563848.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000569453.1_Intron	p.R178*	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	6	659	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	0					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Nonsense_Mutation	SNP	ENST00000268676.7	37	c.532C>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676855	0.47886	2.27E-4	0.0	ENSG00000140995	ENST00000418391	.	.	.	3.86	-5.23	0.02798	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5355	0.27708	0.3488:0.5486:0.0:0.1026	.	.	.	.	X	178	.	.	R	+	1	2	DEF8	88553082	0.003000	0.15002	0.000000	0.03702	0.172000	0.22775	1.295000	0.33377	-0.758000	0.04690	-1.516000	0.00938	CGA		0.557	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		47	201	0	0	0	1	0	47	201					T	90025581	C	T	90025581	1	4	79	0	1	0	0	0	0	0	0	0	4398	528	19	1		1	DEF8	16	90025581	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23971	90025581	329172	16668	26985											
DEF8	54849	broad.mit.edu	37	chr16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccctccaccctagggTgttattaccgctgtcacagt	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000268676.7	+	7	789	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000563594.1_Missense_Mutation_p.C173R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563848.1_3'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	234					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(517-519)Tgt>Cgt		differentially expressed in FDCP 8 homolog (mouse)							154	134	141					16																	90027341		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027341T>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.700T>C	16.37:g.90027341T>C	ENSP00000268676:p.Cys234Arg					DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000268676.7_Missense_Mutation_p.C234R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R	p.C173R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1514	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	234					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.517T>C	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470659	0.43942	.	.	ENSG00000140995	ENST00000268676	D	0.99876	-7.41	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.138480	0.51477	D	0.000081	D	0.99876	0.9941	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.96365	0.9269	10	0.87932	D	0	-25.1315	12.6876	0.56956	0.0:0.0:0.0:1.0	.	173;163;234	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	R	234	ENSP00000268676:C234R	ENSP00000268676:C234R	C	+	1	0	DEF8	88554842	1.000000	0.71417	0.789000	0.31954	0.172000	0.22775	7.164000	0.77533	1.721000	0.51461	0.379000	0.24179	TGT		0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		208	616	0	0	0	1	0	208	616					C	90027341	T	C	90027341	3	2	79	1	0	0	0	0	1	0	0	0	4398	1696	59	4	802	4	DEF8	16	90027341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1760	90027341	327412	16669	26986											
GAS8	2622	broad.mit.edu	37	chr16	90097793	90097793	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctggagcgggacaagatCcacaccttctgggagatcac	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I|C16orf3_ENST00000408886.2_5'Flank	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(175-177)atC>atA		growth arrest-specific 8							106	101	103					16																	90097793		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90097793C>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.177C>A	16.37:g.90097793C>A						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I	p.I59I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	3	299	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	59			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.177C>A	CCDS10992.1																																																																																				0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			13	204	1	0	1.5842e-08	1	1.65642e-08	13	204					A	90097793	C	A	90097793	2	1	79	1	0	0	0	0	0	0	0	1	6279	845	30	3		3	GAS8	16	90097793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70452	90097793	256960	16670	26987											
GAS8	2622	broad.mit.edu	37	chr16	90102049	90102049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgtgcagaaacacacCgaggagatcaccaggatgcg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	168	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGAAACACACCGAGGAGATCA	0.562																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(502-504)acC>acT		growth arrest-specific 8							191	152	165					16																	90102049		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90102049C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.504C>T	16.37:g.90102049C>T						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	p.T168T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	5	626	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	168			Microtubule-binding.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.504C>T	CCDS10992.1																																																																																				0.562	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			98	457	0	0	0	1	0	98	457					T	90102049	C	T	90102049	2	4	79	1	0	0	0	0	0	0	0	1	6279	639	23	1		1	GAS8	16	90102049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4256	90102049	252704	16671	26988											
GAS8	2622	broad.mit.edu	37	chr16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacactgggccagggccccGcgggactggtgggcaccccg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	471					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1411-1413)Gcg>Acg		growth arrest-specific 8							42	43	43					16																	90109727		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90109727G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1411G>A	16.37:g.90109727G>A	ENSP00000268699:p.Ala471Thr					GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_3'UTR|URAHP_ENST00000409873.1_Intron	p.A471T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	11	1533	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	471					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1411G>A	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169634	0.57584	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.51071	0.83;0.72	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	P	0.45377	0.478	T	0.57923	-0.7727	9	.	.	.	-31.3668	18.2512	0.90004	0.0:0.0:1.0:0.0	.	471	O95995	GAS8_HUMAN	T	446;471	ENSP00000440977:A446T;ENSP00000268699:A471T	.	A	+	1	0	GAS8	88637228	1.000000	0.71417	0.815000	0.32552	0.046000	0.14306	8.551000	0.90678	2.688000	0.91661	0.557000	0.71058	GCG		0.637	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			101	268	0	0	0	1	0	101	268					A	90109727	G	A	90109727	3	1	79	1	0	0	0	0	1	0	0	0	6279	1087	38	1	1453	1	GAS8	16	90109727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7678	90109727	245026	16672	26989											
PRDM7	11105	broad.mit.edu	37	chr16	90128425	90128425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagatcagatgcctcGttccatactccaagcccagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90128425G>A	ENST00000449207.2	-	7	805	c.786C>T	c.(784-786)aaC>aaT	p.N262N	PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000407825.1_Silent_p.N56N	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	262	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAGATGCCTCGTTCCATACTC	0.577																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(166-168)aaC>aaT		PR domain containing 7							91	84	86					16																	90128425		2198	4300	6498	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128425G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.786C>T	16.37:g.90128425G>A						PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000449207.2_Silent_p.N262N	p.N56N			Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	805	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	262			KRAB-related.		A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	c.168C>T	CCDS45557.1																																																																																				0.577	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			16	489	0	0	0	1	0	16	489					A	90128425	G	A	90128425	2	1	79	1	0	0	0	0	0	0	0	1	12508	1136	40	1		1	PRDM7	16	90128425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18698	90128425	226328	16673	26990											
RPH3AL	9501	broad.mit.edu	37	chr17	63652	63652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagacacctcagcccagGcagctggaggggcctgctgg	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000331302.7	-	10	1246	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000323434.8_Silent_p.C284C	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	313					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(850-852)tgC>tgT		rabphilin 3A-like (without C2 domains)							21	26	24					17																	63652		2203	4299	6502	SO:0001819	synonymous_variant	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:63652G>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.939C>T	17.37:g.63652G>A						RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000331302.7_Silent_p.C313C	p.C284C	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	9	1449	-			313					D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	c.852C>T	CCDS10994.1																																																																																				0.632	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		26	156	0	0	0	1	0	26	156					A	63652	G	A	63652	2	1	79	1	0	0	0	0	0	0	0	1	13602	1195	42	2		2	RPH3AL	17	63652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08		63652	81131558	16674	26991											
VPS53	55275	broad.mit.edu	37	chr17	531366	531366	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtaccagatactctgacaGatgctgtttaataaactttt	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000571805.1	-	9	929	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000437048.2_Missense_Mutation_p.L265M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	265					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(793-795)Ctg>Atg		vacuolar protein sorting 53 homolog (S. cerevisiae)							153	143	147					17																	531366		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:531366G>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.793C>A	17.37:g.531366G>T	ENSP00000459312:p.Leu265Met					VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000571805.1_Missense_Mutation_p.L265M|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M	p.L265M	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	9	939	-			265					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.793C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190685	0.78789	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.59906	0.23;0.23;0.23	6.04	5.08	0.68730	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.996	T	0.80016	-0.1559	10	0.87932	D	0	-14.7172	14.7343	0.69404	0.0688:0.0:0.9312:0.0	.	265;67;265;236	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	M	265;67;236	ENSP00000401435:L265M;ENSP00000394386:L67M;ENSP00000291074:L236M	ENSP00000291074:L236M	L	-	1	2	VPS53	478116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.478000	0.66806	1.584000	0.49913	-0.217000	0.12591	CTG		0.358	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		39	130	1	0	2.40579e-17	1	2.65515e-17	39	130					T	531366	G	T	531366	3	4	79	1	0	0	0	0	1	0	0	0	17269	933	33	3	1776	3	VPS53	17	531366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467714	531366	80663844	16675	26992											
FAM57A	79850	broad.mit.edu	37	chr17	644642	644642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccttcatgtactggtcCtatggccgccagcagggact	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000308278.8	+	5	842	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_ENST00000301324.8_Silent_p.S170S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	202	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(604-606)tcC>tcT		family with sequence similarity 57, member A							141	116	124					17																	644642		2203	4300	6503	SO:0001819	synonymous_variant	79850					integral to membrane|plasma membrane		g.chr17:644642C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.606C>T	17.37:g.644642C>T						FAM57A_ENST00000301324.8_Silent_p.S170S	p.S202S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	5	842	+			202			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	c.606C>T	CCDS10996.1																																																																																				0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		78	287	0	0	0	1	0	78	287					T	644642	C	T	644642	2	4	79	1	0	0	0	0	0	0	0	1	5613	668	24	2		2	FAM57A	17	644642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113276	644642	80550568	16676	26993											
GEMIN4	50628	broad.mit.edu	37	chr17	648153	648153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttggcgccgttcttcagGgccgatgccctcagcaatgg	14	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000319004.5	-	2	3248	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.P1033S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1044					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(3097-3099)Cct>Tct		gem (nuclear organelle) associated protein 4							42	42	42					17																	648153		1994	4163	6157	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:648153G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.3130C>T	17.37:g.648153G>A	ENSP00000321706:p.Pro1044Ser					GEMIN4_ENST00000319004.5_Missense_Mutation_p.P1044S	p.P1033S			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	4438	-		Myeloproliferative disorder(207;0.204)	1044		R -> C (in dbSNP:rs7813).			Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.3097C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647231	0.14516	.	.	ENSG00000179409	ENST00000319004	T	0.05382	3.45	5.71	5.71	0.89125	.	0.384630	0.28476	N	0.015215	T	0.13286	0.0322	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.51516	0.672	T	0.07271	-1.0781	10	0.20519	T	0.43	-13.8527	14.6388	0.68708	0.0:0.2571:0.7429:0.0	.	1044	P57678	GEMI4_HUMAN	S	1044	ENSP00000321706:P1044S	ENSP00000321706:P1044S	P	-	1	0	GEMIN4	594903	0.893000	0.30496	0.996000	0.52242	0.073000	0.16967	1.509000	0.35780	2.709000	0.92574	0.655000	0.94253	CCT		0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		11	129	0	0	0	1	0	11	129					A	648153	G	A	648153	3	1	79	1	0	0	0	0	1	0	0	0	6359	1232	43	2	50	2	GEMIN4	17	648153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3511	648153	80547057	16677	26994											
GEMIN4	50628	broad.mit.edu	37	chr17	650235	650235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaaggaagtcagactgtCgcacagccggtagctgtcgt	14	10	1	2	rs373067107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000319004.5	-	2	1166	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	350					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1015-1017)Gac>Aac		gem (nuclear organelle) associated protein 4		C	ASN/ASP	2,4246		0,2,2122	64	69	67		1048	5	1	17		67	0,8454		0,0,4227	no	missense	GEMIN4	NM_015721.2	23	0,2,6349	TT,TC,CC		0.0,0.0471,0.0157	probably-damaging	350/1059	650235	2,12700	2124	4227	6351	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650235C>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1048G>A	17.37:g.650235C>T	ENSP00000321706:p.Asp350Asn					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.D350N	p.D339N			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2356	-		Myeloproliferative disorder(207;0.204)	350					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1015G>A	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769060	0.31320	4.71E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17854	2.25	5.95	4.99	0.66335	.	0.163861	0.53938	D	0.000060	T	0.19127	0.0459	M	0.64997	1.995	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.02758	-1.1114	10	0.45353	T	0.12	-22.2074	9.6685	0.39998	0.0:0.7851:0.1413:0.0736	.	350	P57678	GEMI4_HUMAN	N	350	ENSP00000321706:D350N	ENSP00000321706:D350N	D	-	1	0	GEMIN4	596985	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.408000	0.44574	1.527000	0.49086	0.563000	0.77884	GAC		0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		96	425	0	0	0	1	0	96	425					T	650235	C	T	650235	3	4	79	1	0	0	0	0	1	0	0	0	6359	884	31	1	2132	1	GEMIN4	17	650235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	650235	80544975	16678	26995											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	12	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87	95	92					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V	p.A240V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		117	507	0	0	0	1	0	117	507					A	650531	G	A	650531	3	1	79	1	0	0	0	0	1	0	0	0	6359	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	650531	80544679	16679	26996											
GEMIN4	50628	broad.mit.edu	37	chr17	650572	650572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggttggccagcgcacaGcacttcctccccgggcccag	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000319004.5	-	2	829	c.711C>T	c.(709-711)tgC>tgT	p.C237C	GEMIN4_ENST00000576778.1_Silent_p.C226C|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	237					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAGCGCACAGCACTTCCTCC	0.637																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(676-678)tgC>tgT		gem (nuclear organelle) associated protein 4							67	75	72					17																	650572		2170	4269	6439	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650572G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.711C>T	17.37:g.650572G>A						GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Silent_p.C237C	p.C226C			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2019	-		Myeloproliferative disorder(207;0.204)	237					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.678C>T	CCDS45559.1																																																																																				0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		14	527	0	0	0	1	0	14	527					A	650572	G	A	650572	2	1	79	1	0	0	0	0	0	0	0	1	6359	963	34	2		2	GEMIN4	17	650572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	650572	80544638	16680	26997											
TIMM22	29928	broad.mit.edu	37	chr17	902750	902750	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtacttccctgcccacAgtaccggggaacatcagact	9	14	1	1	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.e3-1		translocase of inner mitochondrial membrane 22 homolog (yeast)		A		1,4405	2.1+/-5.4	0,1,2202	270	233	245			5.7	1	17	dbSNP_134	245	0,8600		0,0,4300	no	splice-3	TIMM22	NM_013337.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077			902750	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:902750A>G	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.436-1A>G	17.37:g.902750A>G								NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	461	+								Q9NWI8	Splice_Site	SNP	ENST00000327158.4	37		CCDS32521.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025922	0.54683	2.27E-4	0.0	ENSG00000177370	ENST00000327158	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0767	0.72082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIMM22	849500	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.864000	0.92294	2.150000	0.67090	0.533000	0.62120	.		0.502	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337	Intron	102	490	0	0	0	1	0	102	490					G	902750	A	G	902750	5	3	79	1	0	0	0	0	0	0	1	0	15962	202	7	4	444	4	TIMM22	17	902750	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252178	902750	80292460	16681	26998											
ABR	29	broad.mit.edu	37	chr17	994935	994935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtggcccatggtgacCtggctgtcccactgttgcac	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000302538.5	-	4	647	c.501G>T	c.(499-501)caG>caT	p.Q167H	ABR_ENST00000544583.2_Missense_Mutation_p.Q121H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(361-363)caG>caT		active BCR-related							134	116	122					17																	994935		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:994935C>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.501G>T	17.37:g.994935C>A	ENSP00000303909:p.Gln167His					ABR_ENST00000302538.5_Missense_Mutation_p.Q167H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	p.Q121H	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	4	962	-			167			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.363G>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627495	0.46944	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.63096	-0.02;-0.02;-0.02	6.04	0.793	0.18632	Dbl homology (DH) domain (5);	0.341955	0.34603	N	0.003837	T	0.42404	0.1201	N	0.11313	0.125	0.80722	D	1	P;B;P;B	0.50369	0.934;0.009;0.545;0.003	P;B;B;B	0.47102	0.537;0.021;0.221;0.005	T	0.30880	-0.9963	10	0.51188	T	0.08	.	6.4166	0.21719	0.0:0.5355:0.1223:0.3422	.	121;51;130;167	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	167;121;130;51	ENSP00000303909:Q167H;ENSP00000442048:Q121H;ENSP00000291107:Q130H	ENSP00000291107:Q130H	Q	-	3	2	ABR	941685	0.952000	0.32445	1.000000	0.80357	0.984000	0.73092	0.090000	0.15025	0.463000	0.27118	-0.251000	0.11542	CAG		0.562	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			83	405	1	0	3.99893e-49	1	4.94408e-49	83	405					A	994935	C	A	994935	3	1	79	1	0	0	0	0	1	0	0	0	99	680	24	3	2158	3	ABR	17	994935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92185	994935	80200275	16682	26999											
YWHAE	7531	broad.mit.edu	37	chr17	1257631	1257631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcatcatcaaaagctgCttttgccaacctaaaggtat	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	ENST00000264335.8	-	5	856	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	197					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAAAAGCTGCTTTTGCCAAC	0.348			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(589-591)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							88	71	77					17																	1257631		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1257631C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.589G>A	17.37:g.1257631C>T	ENSP00000264335:p.Ala197Thr					YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	p.A197T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	5	856	-			197					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.589G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020559	0.75275	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.41065	1.01	5.51	5.51	0.81932	14-3-3 domain (4);	0.128998	0.50627	U	0.000101	T	0.27663	0.0680	N	0.11756	0.17	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.06899	-1.0801	10	0.21014	T	0.42	-6.4486	16.9304	0.86189	0.0:1.0:0.0:0.0	.	197	P62258	1433E_HUMAN	T	197;175	ENSP00000264335:A197T	ENSP00000264335:A197T	A	-	1	0	YWHAE	1204381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.885000	0.56182	2.580000	0.87095	0.650000	0.86243	GCA		0.348	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		8	177	0	0	0	1	0	8	177					T	1257631	C	T	1257631	3	4	79	1	0	0	0	0	1	0	0	0	17556	797	28	2	186	2	YWHAE	17	1257631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262696	1257631	79937579	16683	27000											
YWHAE	7531	broad.mit.edu	37	chr17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctgtggcaaattctgCcagatacctgtggtagtccc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	133					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(397-399)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							91	87	88					17																	1264567		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264567C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.397G>A	17.37:g.1264567C>T	ENSP00000264335:p.Ala133Thr					YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	p.A133T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	664	-			133					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.397G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265945	0.95399	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.52983	0.64	5.25	5.25	0.73442	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.76478	0.3993	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83363	0.0003	10	0.87932	D	0	-3.0444	16.4303	0.83840	0.0:1.0:0.0:0.0	.	133	P62258	1433E_HUMAN	T	133;111	ENSP00000264335:A133T	ENSP00000264335:A133T	A	-	1	0	YWHAE	1211317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.454000	0.82982	0.650000	0.86243	GCA		0.373	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		96	440	0	0	0	1	0	96	440					T	1264567	C	T	1264567	3	4	79	1	0	0	0	0	1	0	0	0	17556	739	26	2	382	2	YWHAE	17	1264567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6936	1264567	79930643	16684	27001											
CRK	1398	broad.mit.edu	37	chr17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggctcgcacatactccGcctcctcctgcctgagaatc	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000574295.1_Splice_Site	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	134	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(400-402)gCg>gTg		v-crk avian sarcoma virus CT10 oncogene homolog							109	103	105					17																	1340290		2203	4300	6503	SO:0001583	missense	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340290G>A	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.401C>T	17.37:g.1340290G>A	ENSP00000300574:p.Ala134Val					CRK_ENST00000574295.1_Splice_Site|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V	p.A134V	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	541	-			134			SH3 1.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	c.401C>T	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813633	0.50527	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.40476	2.05;1.03	5.73	4.77	0.60923	Src homology-3 domain (2);	0.486247	0.24130	N	0.041279	T	0.21631	0.0521	N	0.10733	0.035	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.06607	-1.0817	10	0.26408	T	0.33	-10.8069	9.0027	0.36092	0.166:0.0:0.834:0.0	.	134;134	P46108-2;P46108	.;CRK_HUMAN	V	134	ENSP00000300574:A134V;ENSP00000381942:A134V	ENSP00000300574:A134V	A	-	2	0	CRK	1287040	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	1.571000	0.49722	0.655000	0.94253	GCG		0.463	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		128	445	0	0	0	1	0	128	445					A	1340290	G	A	1340290	3	1	79	1	0	0	0	0	1	0	0	0	3893	1087	38	1	521	1	CRK	17	1340290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75723	1340290	79854920	16685	27002											
MYO1C	4641	broad.mit.edu	37	chr17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgttgaaatactggaCgggctcccactgaggggcag	14	8	0	2	rs147805425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000575158.1	-	13	1482	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	MYO1C_ENST00000359786.5_Missense_Mutation_p.V471I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	438	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19164	0.001		0.0	False		,,,				2504	0.0					ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1411-1413)Gtc>Atc		myosin IC		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	108	106	107		1411,1354,1306	5.1	1	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	471/1064,452/1045,436/1029	1381256	1,13005	2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381256C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1306G>A	17.37:g.1381256C>T	ENSP00000459174:p.Val436Ile					MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000575158.1_Missense_Mutation_p.V436I	p.V471I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	13	1735	-			471			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1411G>A	CCDS11003.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.92	2.082513	0.36758	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.07	5.07	0.68467	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	N	0.05441	-0.05	0.54753	D	0.999989	B;B;B	0.32620	0.18;0.378;0.149	B;B;B	0.31337	0.052;0.128;0.031	T	0.70392	-0.4884	10	0.18276	T	0.48	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	447;471;452	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	I	471;452;452;436;447;436	ENSP00000352834:V471I;ENSP00000412197:V452I;ENSP00000354283:V436I;ENSP00000437685:V447I	ENSP00000352834:V471I	V	-	1	0	MYO1C	1328006	0.999000	0.42202	1.000000	0.80357	0.872000	0.50106	4.021000	0.57196	2.507000	0.84556	0.563000	0.77884	GTC		0.592	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			150	556	0	0	0	1	0	150	556					T	1381256	C	T	1381256	3	4	79	1	0	0	0	0	1	0	0	0	10111	536	19	1	1860	1	MYO1C	17	1381256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40966	1381256	79813954	16686	27003											
MYO1C	4641	broad.mit.edu	37	chr17	1381754	1381754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccaggagcccgagaacCgtggtgctccgccagctggg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000575158.1	-	11	1316	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	MYO1C_ENST00000359786.5_Silent_p.T415T|MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	383	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1243-1245)acG>acA		myosin IC							62	71	68					17																	1381754		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381754C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1140G>A	17.37:g.1381754C>T						MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000575158.1_Silent_p.T380T	p.T415T	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1569	-			415			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1245G>A	CCDS11003.1																																																																																				0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			79	450	0	0	0	1	0	79	450					T	1381754	C	T	1381754	2	4	79	1	0	0	0	0	0	0	0	1	10111	639	23	1		1	MYO1C	17	1381754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498	1381754	79813456	16687	27004											
PITPNA	5306	broad.mit.edu	37	chr17	1438814	1438814	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgccttgtaatccTgagagaaattgtggaattgg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.e8-2		phosphatidylinositol transfer protein, alpha							59	56	57					17																	1438814		1869	4107	5976	SO:0001630	splice_region_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1438814T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.457-2A>G	17.37:g.1438814T>C						PITPNA_ENST00000539476.1_Splice_Site		NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	8	712	-									Splice_Site	SNP	ENST00000313486.7	37		CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187847	0.78789	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.913	0.70773	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNA	1385564	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.933000	0.87642	2.205000	0.71048	0.533000	0.62120	.		0.478	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		Intron	36	160	0	0	0	1	0	36	160					C	1438814	T	C	1438814	5	2	79	1	0	0	0	0	0	0	1	0	11989	1594	55	4	373	4	PITPNA	17	1438814	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57060	1438814	79756396	16688	27005											
SLC43A2	124935	broad.mit.edu	37	chr17	1479048	1479048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggctgagaaggagcagCcccacgttcacctggggagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000301335.5	-	14	1648	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	520					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1570-1572)ggG>ggA		solute carrier family 43 (amino acid system L transporter), member 2							38	34	35					17																	1479048		2201	4299	6500	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1479048C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1560G>A	17.37:g.1479048C>T						SLC43A2_ENST00000301335.4_Silent_p.G520G|SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000382147.4_Silent_p.G524G	p.G524G			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	15	1878	-			520					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.1572G>A	CCDS11006.1																																																																																				0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		32	97	0	0	0	1	0	32	97					T	1479048	C	T	1479048	2	4	79	1	0	0	0	0	0	0	0	1	14683	726	26	2		2	SLC43A2	17	1479048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40234	1479048	79716162	16689	27006											
SLC43A2	124935	broad.mit.edu	37	chr17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcaaagcccagccagCtgaacttgatcttcaccctg	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000301335.5	-	8	834	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	249					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(745-747)aGc>aAc		solute carrier family 43 (amino acid system L transporter), member 2							71	65	67					17																	1494748		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1494748C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.746G>A	17.37:g.1494748C>T	ENSP00000301335:p.Ser249Asn					SLC43A2_ENST00000301335.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N	p.S249N			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	8	1052	-			249					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.746G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465755	0.84425	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.34275	1.83;1.85;1.37	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.80722	D	1	D;D;B;B	0.71674	0.998;0.998;0.182;0.151	D;D;B;B	0.80764	0.957;0.994;0.058;0.144	T	0.30268	-0.9984	10	0.19147	T	0.46	-21.9657	20.6439	0.99570	0.0:1.0:0.0:0.0	.	112;249;249;249	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	N	249;249;112	ENSP00000301335:S249N;ENSP00000371582:S249N;ENSP00000408284:S112N	ENSP00000301335:S249N	S	-	2	0	SLC43A2	1441498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.666000	0.61554	2.884000	0.98904	0.655000	0.94253	AGC		0.687	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		72	361	0	0	0	1	0	72	361					T	1494748	C	T	1494748	3	4	79	1	0	0	0	0	1	0	0	0	14683	797	28	2	991	2	SLC43A2	17	1494748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15700	1494748	79700462	16690	27007											
SLC43A2	124935	broad.mit.edu	37	chr17	1519929	1519929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggtgatggcactgaGcagaaaggagcccacagtga	17	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000301335.5	-	3	383	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F|snoU13_ENST00000459614.1_RNA	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	99					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ATGGCACTGAGCAGAAAGGAG	0.622																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(295-297)Ctc>Ttc		solute carrier family 43 (amino acid system L transporter), member 2							94	70	78					17																	1519929		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1519929G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.295C>T	17.37:g.1519929G>A	ENSP00000301335:p.Leu99Phe					SLC43A2_ENST00000301335.4_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F	p.L99F			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	3	601	-			99					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.295C>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699104	0.88830	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.71817	-0.6;-0.6	4.36	4.36	0.52297	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.91635	0.999;0.95;0.994	T	0.77928	-0.2404	10	0.10377	T	0.69	-22.1218	18.2018	0.89840	0.0:0.0:1.0:0.0	.	99;99;99	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	F	99	ENSP00000301335:L99F;ENSP00000371582:L99F	ENSP00000301335:L99F	L	-	1	0	SLC43A2	1466679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.715000	0.92844	0.655000	0.94253	CTC		0.622	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		5	199	0	0	0	1	0	5	199					A	1519929	G	A	1519929	3	1	79	1	0	0	0	0	1	0	0	0	14683	971	34	2	1462	2	SLC43A2	17	1519929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25181	1519929	79675281	16691	27008											
SCARF1	8578	broad.mit.edu	37	chr17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccgatggccgcttggcccGagctaggctggaggtgcgcg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1750-1752)Cgg>Tgg		scavenger receptor class F, member 1							59	61	60					17																	1538795		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538795G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1750C>T	17.37:g.1538795G>A	ENSP00000263071:p.Arg584Trp					SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	p.R584W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1799	-			584			Pro/Ser-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1750C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888416	0.72524	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35789	1.29;1.29	5.21	0.552	0.17230	.	0.000000	0.38897	N	0.001532	T	0.54303	0.1850	L	0.57536	1.79	0.27762	N	0.943808	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.58457	-0.7633	10	0.87932	D	0	-23.6421	16.2366	0.82380	0.0:0.0:0.2687:0.7313	.	498;584	Q14162-2;Q14162	.;SREC_HUMAN	W	584;498	ENSP00000263071:R584W;ENSP00000323964:R498W	ENSP00000263071:R584W	R	-	1	2	SCARF1	1485545	1.000000	0.71417	0.259000	0.24435	0.979000	0.70002	2.324000	0.43831	-0.099000	0.12263	0.555000	0.69702	CGG		0.672	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		57	611	0	0	0	1	0	57	611					A	1538795	G	A	1538795	3	1	79	1	0	0	0	0	1	0	0	0	13933	1057	37	1	746	1	SCARF1	17	1538795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18866	1538795	79656415	16692	27009											
PRPF8	10594	broad.mit.edu	37	chr17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcttatatgactttcGgggatggattgtctcctttt	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATGACTTTCGGGGATGGATT	0.448																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4849-4851)Cga>Tga		pre-mRNA processing factor 8							178	146	157					17																	1563232		2203	4300	6503	SO:0001587	stop_gained	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563232G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4849C>T	17.37:g.1563232G>A	ENSP00000460348:p.Arg1617*					PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*	p.R1617*			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5114	-			1617					O14547|O75965	Nonsense_Mutation	SNP	ENST00000572621.1	37	c.4849C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	45	12.059471	0.99632	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	.	.	.	6.06	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5008	15.7685	0.78146	0.0:0.0:0.6624:0.3376	.	.	.	.	X	1617;144	.	ENSP00000304350:R1617X	R	-	1	2	PRPF8	1509982	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.556000	0.45862	1.533000	0.49186	0.655000	0.94253	CGA		0.448	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			78	357	0	0	0	1	0	78	357					A	1563232	G	A	1563232	4	1	79	1	0	0	0	0	0	1	0	0	12622	1124	39	1	2210	1	PRPF8	17	1563232	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24437	1563232	79631978	16693	27010											
PRPF8	10594	broad.mit.edu	37	chr17	1563837	1563837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtgcatgaagataccCgtcaggtctagctgcacctg	11	12	2	2	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1558	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAGATACCCGTCAGGTCTA	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22992	0.0		0.0	False		,,,				2504	0.0					ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4672-4674)acG>acA		pre-mRNA processing factor 8		C		6,4400	11.4+/-27.6	0,6,2197	141	138	139		4674	-8.8	0.9	17	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		1558/2336	1563837	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563837C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4674G>A	17.37:g.1563837C>T						PRPF8_ENST00000304992.6_Silent_p.T1558T	p.T1558T			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	4939	-			1558					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4674G>A	CCDS11010.1																																																																																				0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			25	859	0	0	0	1	0	25	859					T	1563837	C	T	1563837	2	4	79	1	0	0	0	0	0	0	0	1	12622	639	23	1		1	PRPF8	17	1563837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	1563837	79631373	16694	27011											
PRPF8	10594	broad.mit.edu	37	chr17	1576444	1576444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggaagcgctgcattgaCtcatcgtccacacgcaggaa	11	11	1	1	rs201906457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1576444C>T	ENST00000572621.1	-	23	3970	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	PRPF8_ENST00000304992.6_Silent_p.E1235E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTGCATTGACTCATCGTCCA	0.542																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3703-3705)gaG>gaA		pre-mRNA processing factor 8							163	124	137					17																	1576444		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576444C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3705G>A	17.37:g.1576444C>T						PRPF8_ENST00000304992.6_Silent_p.E1235E	p.E1235E			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	23	3970	-			1235					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3705G>A	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			13	335	0	0	0	1	0	13	335					T	1576444	C	T	1576444	2	4	79	1	0	0	0	0	0	0	0	1	12622	564	20	2		2	PRPF8	17	1576444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12607	1576444	79618766	16695	27012											
PRPF8	10594	broad.mit.edu	37	chr17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaaaagggggaaaaCgcatcctcttgaaatgcctc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	165					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGGGGAAAACGCATCCTCTT	0.502																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(493-495)cGt>cAt		pre-mRNA processing factor 8							89	88	88					17																	1585273		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585273C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.494G>A	17.37:g.1585273C>T	ENSP00000460348:p.Arg165His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H	p.R165H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	4	759	-			165					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.494G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.154767	0.94686	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82096	-0.0626	10	0.72032	D	0.01	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	165	Q6P2Q9	PRP8_HUMAN	H	165	ENSP00000304350:R165H	ENSP00000304350:R165H	R	-	2	0	PRPF8	1532023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	CGT		0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			75	294	0	0	0	1	0	75	294					T	1585273	C	T	1585273	3	4	79	1	0	0	0	0	1	0	0	0	12622	536	19	1	6669	1	PRPF8	17	1585273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8829	1585273	79609937	16696	27013											
SERPINF2	5345	broad.mit.edu	37	chr17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgcacgtacccgctgcGctggttcttgctggagcagc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	276					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TACCCGCTGCGCTGGTTCTTG	0.622																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(826-828)cGc>cAc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						92	89	90					17																	1652003		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1652003G>A	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.827G>A	17.37:g.1652003G>A	ENSP00000321853:p.Arg276His					SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H	p.R276H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	904	+			276					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.827G>A	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.95	2.97	0.34412	Serpin domain (3);	0.131813	0.64402	N	0.000003	T	0.78104	0.4231	L	0.49778	1.585	0.33688	D	0.612924	B;B	0.29378	0.243;0.097	B;B	0.18263	0.021;0.009	T	0.76686	-0.2868	9	.	.	.	.	11.6226	0.51126	0.1465:0.0:0.8535:0.0	.	212;276	B4E1B7;P08697	.;A2AP_HUMAN	H	276;212;160;276	ENSP00000321853:R276H;ENSP00000403877:R212H;ENSP00000402056:R160H;ENSP00000371493:R276H	.	R	+	2	0	SERPINF2	1598753	1.000000	0.71417	0.947000	0.38551	0.101000	0.19017	4.817000	0.62650	0.617000	0.30160	-0.244000	0.11960	CGC		0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		36	598	0	0	0	1	0	36	598					A	1652003	G	A	1652003	3	1	79	1	0	0	0	0	1	0	0	0	14165	1087	38	1	863	1	SERPINF2	17	1652003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66730	1652003	79543207	16697	27014											
SERPINF2	5345	broad.mit.edu	37	chr17	1657648	1657648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccctcttcgtgggcagCgtgaggaaccccaaccccag	10	17	1	1	rs201846794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	432					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCGTGGGCAGCGTGAGGAACC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15104	0.001		0.0	False		,,,				2504	0.0					ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)agC>agT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						130	114	119					17																	1657648		2203	4300	6503	SO:0001819	synonymous_variant	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657648C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1296C>T	17.37:g.1657648C>T						SERPINF2_ENST00000450523.2_Silent_p.S368S|SERPINF2_ENST00000382061.4_Silent_p.S432S	p.S432S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1373	+			432					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	37	c.1296C>T	CCDS11011.1																																																																																				0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		128	624	0	0	0	1	0	128	624					T	1657648	C	T	1657648	2	4	79	1	0	0	0	0	0	0	0	1	14165	767	27	1		1	SERPINF2	17	1657648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	1657648	79537562	16698	27015											
SMYD4	114826	broad.mit.edu	37	chr17	1686706	1686706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctctcccaccacggcGtgctctgcccacaggaagct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	695							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(2083-2085)caC>caT		SET and MYND domain containing 4							36	34	35					17																	1686706		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1686706G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2085C>T	17.37:g.1686706G>A							p.H695H	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			9	2252	-			695					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.2085C>T	CCDS11013.1																																																																																				0.622	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		36	149	0	0	0	1	0	36	149					A	1686706	G	A	1686706	2	1	79	1	0	0	0	0	0	0	0	1	14874	1136	40	1		1	SMYD4	17	1686706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29058	1686706	79508504	16699	27016											
RPA1	6117	broad.mit.edu	37	chr17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaaagtcagatccgtaCctggagcaactcccgagggg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	211					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(631-633)aCc>aTc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							145	113	124					17																	1780550		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1780550C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.632C>T	17.37:g.1780550C>T	ENSP00000254719:p.Thr211Ile					RPA1_ENST00000573924.1_3'UTR	p.T211I	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			8	742	+			211					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.632C>T	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994189	0.93167	.	.	ENSG00000132383	ENST00000254719	T	0.51325	0.71	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81856	-0.0740	10	0.54805	T	0.06	-25.4334	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211	P27694	RFA1_HUMAN	I	211	ENSP00000254719:T211I	ENSP00000254719:T211I	T	+	2	0	RPA1	1727300	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	ACC		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		40	188	0	0	0	1	0	40	188					T	1780550	C	T	1780550	3	4	79	1	0	0	0	0	1	0	0	0	13586	507	18	2	662	2	RPA1	17	1780550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93844	1780550	79414660	16700	27017											
DPH1	1801	broad.mit.edu	37	chr17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggggccttattctggGcactttgggccgccagggca	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	DPH1_ENST00000570477.1_Missense_Mutation_p.G215D|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	295					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(883-885)gGc>gAc		diphthamide biosynthesis 1							55	56	56					17																	1943631		1970	4150	6120	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943631G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.884G>A	17.37:g.1943631G>A	ENSP00000263083:p.Gly295Asp					DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	p.G295D	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	929	+			295					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.884G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719372	0.89205	.	.	ENSG00000108963	ENST00000263083	T	0.54866	0.55	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.986	D	0.85799	0.1372	10	0.87932	D	0	-18.5475	17.1373	0.86743	0.0:0.0:1.0:0.0	.	305;305;295	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	D	295	ENSP00000263083:G295D	ENSP00000263083:G295D	G	+	2	0	DPH1	1890381	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.199000	0.72112	2.380000	0.81148	0.491000	0.48974	GGC		0.592	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		43	396	0	0	0	1	0	43	396					A	1943631	G	A	1943631	3	1	79	1	0	0	0	0	1	0	0	0	4735	1203	42	2	914	2	DPH1	17	1943631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163081	1943631	79251579	16701	27018											
DPH1	1801	broad.mit.edu	37	chr17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctggaatctcgactcCgagccttgggcctttccttt	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*|RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	314					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(940-942)Cga>Tga		diphthamide biosynthesis 1							84	82	83					17																	1943817		2057	4212	6269	SO:0001587	stop_gained	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943817C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.940C>T	17.37:g.1943817C>T	ENSP00000263083:p.Arg314*					DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*	p.R314*	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			9	985	+			314					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Nonsense_Mutation	SNP	ENST00000263083.6	37	c.940C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956974	0.98580	.	.	ENSG00000108963	ENST00000263083	.	.	.	5.25	3.18	0.36537	.	0.822586	0.11389	N	0.569013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	3.1253	9.3191	0.37952	0.1461:0.7767:0.0:0.0773	.	.	.	.	X	314	.	ENSP00000263083:R314X	R	+	1	2	DPH1	1890567	0.025000	0.19082	0.052000	0.19188	0.171000	0.22731	1.746000	0.38288	1.152000	0.42452	0.561000	0.74099	CGA		0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		63	355	0	0	0	1	0	63	355					T	1943817	C	T	1943817	4	4	79	1	0	0	0	0	0	1	0	0	4735	644	23	1	974	1	DPH1	17	1943817	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	1943817	79251393	16702	27019											
OVCA2	124641	broad.mit.edu	37	chr17	1946353	1946353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcattccagcagctgcaccCcagcgtcaggcctacctcaa	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(637-639)ccC>ccA		ovarian tumor suppressor candidate 2							70	78	76					17																	1946353		2203	4300	6503	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1946353C>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	17.37:g.1946353C>A			OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	p.P213P	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN			2	654	+			213					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.639C>A	CCDS11015.1																																																																																				0.562	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		25	502	1	0	6.32553e-13	1	6.81307e-13	25	502					A	1946353	C	A	1946353	2	1	79	1	0	0	0	0	0	0	0	1	11364	610	22	3		3	OVCA2	17	1946353	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2536	1946353	79248857	16703	27020											
HIC1	3090	broad.mit.edu	37	chr17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcttgtgcgacgtgaTcatcgtggtgcagaacgccc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000322941.3	+	2	149	c.149T>C	c.(148-150)aTc>aCc	p.I50T	HIC1_ENST00000399849.3_Missense_Mutation_p.I31T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		TGCGACGTGATCATCGTGGTG	0.637																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(91-93)aTc>aCc		hypermethylated in cancer 1							37	40	39					17																	1960076		2146	4271	6417	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960076T>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.149T>C	17.37:g.1960076T>C	ENSP00000314080:p.Ile50Thr					HIC1_ENST00000322941.3_Missense_Mutation_p.I50T	p.I31T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	252	+			50					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.92T>C	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019842	0.54576	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.62639	0.01;0.01	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.43942	0.1270	N	0.11154	0.105	0.48511	D	0.999666	B	0.33883	0.43	B	0.35859	0.212	T	0.45673	-0.9245	9	0.38643	T	0.18	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	50	Q14526	HIC1_HUMAN	T	31;50	ENSP00000382742:I31T;ENSP00000314080:I50T	ENSP00000314080:I50T	I	+	2	0	HIC1	1906826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.706000	0.51276	0.459000	0.35465	ATC		0.637	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		9	321	0	0	0	1	0	9	321					C	1960076	T	C	1960076	3	2	79	1	0	0	0	0	1	0	0	0	7131	1435	50	4	155	4	HIC1	17	1960076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13723	1960076	79235134	16704	27021											
HIC1	3090	broad.mit.edu	37	chr17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtccctggtggtgcatgAcaacctgctcaacctggacc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000322941.3	+	2	236	c.236A>C	c.(235-237)gAc>gCc	p.D79A	HIC1_ENST00000399849.3_Missense_Mutation_p.D60A|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(178-180)gAc>gCc		hypermethylated in cancer 1							43	46	45					17																	1960163		2157	4264	6421	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960163A>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.236A>C	17.37:g.1960163A>C	ENSP00000314080:p.Asp79Ala					HIC1_ENST00000322941.3_Missense_Mutation_p.D79A	p.D60A	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	339	+			79			BTB.		D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.179A>C	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473536	0.63737	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.23348	1.91;1.91	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.47728	0.1461	M	0.67625	2.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51036	-0.8756	9	0.72032	D	0.01	.	12.8345	0.57765	1.0:0.0:0.0:0.0	.	79	Q14526	HIC1_HUMAN	A	60;79	ENSP00000382742:D60A;ENSP00000314080:D79A	ENSP00000314080:D79A	D	+	2	0	HIC1	1906913	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.895000	0.69814	1.706000	0.51276	0.459000	0.35465	GAC		0.642	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		33	357	0	0	0	1	0	33	357					C	1960163	A	C	1960163	3	2	79	1	0	0	0	0	1	0	0	0	7131	275	10	4	242	4	HIC1	17	1960163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	1960163	79235047	16705	27022											
SMG6	23293	broad.mit.edu	37	chr17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcactgcggaaggcgatgGattcgagttcattgccacgg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000263073.6	-	17	4060	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F|SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1337	PINc.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3916-3918)tCc>tTc		SMG6 nonsense mediated mRNA decay factor							54	50	51					17																	1968799		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:1968799G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4010C>T	17.37:g.1968799G>A	ENSP00000263073:p.Ser1337Phe					SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000263073.5_Missense_Mutation_p.S1337F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	p.S1306F			Q86US8	EST1A_HUMAN			17	4427	-			1337			PINc.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3917C>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093095	0.94149	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.8;2.8;1.99	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55774	-0.8088	10	0.87932	D	0	-5.4885	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1337	Q86US8	EST1A_HUMAN	F	1337;1306;248;429	ENSP00000263073:S1337F;ENSP00000443920:S1306F;ENSP00000440283:S429F	ENSP00000263073:S1337F	S	-	2	0	SMG6	1915549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.430000	0.97488	2.640000	0.89533	0.655000	0.94253	TCC		0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			32	134	0	0	0	1	0	32	134					A	1968799	G	A	1968799	3	1	79	1	0	0	0	0	1	0	0	0	14847	1174	41	2	261	2	SMG6	17	1968799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8636	1968799	79226411	16706	27023											
SMG6	23293	broad.mit.edu	37	chr17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaagccgatcctcttccAggataagaagggtgaggtca	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000263073.6	-	13	3322	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1091					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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3178-3180)cTg>cCg		SMG6 nonsense mediated mRNA decay factor							117	98	105					17																	2076037		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2076037A>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3272T>C	17.37:g.2076037A>G	ENSP00000263073:p.Leu1091Pro					SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000263073.5_Missense_Mutation_p.L1091P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P	p.L1060P			Q86US8	EST1A_HUMAN			13	3689	-			1091					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3179T>C	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231593	0.58777	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.55413	0.52;0.52;0.52	6.02	4.95	0.65309	.	0.090669	0.46145	D	0.000312	T	0.56307	0.1976	M	0.82323	2.585	0.80722	D	1	B	0.29162	0.235	B	0.29524	0.103	T	0.58951	-0.7545	10	0.87932	D	0	-5.0247	10.8308	0.46659	0.929:0.0:0.071:0.0	.	1091	Q86US8	EST1A_HUMAN	P	1091;1060;183	ENSP00000263073:L1091P;ENSP00000443920:L1060P;ENSP00000440283:L183P	ENSP00000263073:L1091P	L	-	2	0	SMG6	2022787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.128000	0.89595	1.108000	0.41662	0.448000	0.29417	CTG		0.562	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			60	314	0	0	0	1	0	60	314					G	2076037	A	G	2076037	3	3	79	1	0	0	0	0	1	0	0	0	14847	188	7	4	1015	4	SMG6	17	2076037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107238	2076037	79119173	16707	27024											
SMG6	23293	broad.mit.edu	37	chr17	2139876	2139876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaggggctgtgctgcaGtaacacctggaactccttga	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000263073.6	-	10	2829	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000544865.1_Silent_p.L896L|SMG6_ENST00000354901.4_Silent_p.L19L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	927					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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2686-2688)Ctg>Ttg		SMG6 nonsense mediated mRNA decay factor							157	128	138					17																	2139876		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2139876G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2779C>T	17.37:g.2139876G>A						SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000263073.5_Silent_p.L927L|SMG6_ENST00000354901.4_Silent_p.L19L	p.L896L			Q86US8	EST1A_HUMAN			10	3196	-			927					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2686C>T	CCDS11016.1																																																																																				0.507	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			75	335	0	0	0	1	0	75	335					A	2139876	G	A	2139876	2	1	79	1	0	0	0	0	0	0	0	1	14847	1020	36	2		2	SMG6	17	2139876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63839	2139876	79055334	16708	27025											
SMG6	23293	broad.mit.edu	37	chr17	2139898	2139898	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacctggaactccttgagGaccttctcagccactgcagg	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000263073.6	-	10	2807	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000544865.1_Silent_p.V888V|SMG6_ENST00000354901.4_Silent_p.V11V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	919					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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2662-2664)gtC>gtT		SMG6 nonsense mediated mRNA decay factor							133	110	118					17																	2139898		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2139898G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2757C>T	17.37:g.2139898G>A						SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000263073.5_Silent_p.V919V|SMG6_ENST00000354901.4_Silent_p.V11V	p.V888V			Q86US8	EST1A_HUMAN			10	3174	-			919					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2664C>T	CCDS11016.1																																																																																				0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			70	296	0	0	0	1	0	70	296					A	2139898	G	A	2139898	2	1	79	1	0	0	0	0	0	0	0	1	14847	1161	41	2		2	SMG6	17	2139898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	2139898	79055312	16709	27026											
SMG6	23293	broad.mit.edu	37	chr17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacggccccaactccgaGatcccttactaccagatcca	5	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000263073.6	-	2	1378	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	443	Interaction with telomeric DNA.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1234-1236)tCt>tAt		SMG6 nonsense mediated mRNA decay factor							97	109	105					17																	2202719		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202719G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1328C>A	17.37:g.2202719G>T	ENSP00000263073:p.Ser443Tyr					SMG6_ENST00000263073.5_Missense_Mutation_p.S443Y	p.S412Y			Q86US8	EST1A_HUMAN			2	1745	-			443			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1235C>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001912	0.54254	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09538	2.97;2.97	5.54	5.54	0.83059	.	0.498560	0.22116	N	0.064408	T	0.08802	0.0218	N	0.19112	0.55	0.26833	N	0.968548	P	0.36789	0.57	B	0.36885	0.235	T	0.18681	-1.0329	10	0.66056	D	0.02	-3.384	12.7756	0.57445	0.0749:0.0:0.9251:0.0	.	443	Q86US8	EST1A_HUMAN	Y	443;412	ENSP00000263073:S443Y;ENSP00000443920:S412Y	ENSP00000263073:S443Y	S	-	2	0	SMG6	2149469	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.268000	0.58883	2.592000	0.87571	0.650000	0.86243	TCT		0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			145	791	1	0	3.57201e-63	1	4.50676e-63	145	791					T	2202719	G	T	2202719	3	4	79	1	0	0	0	0	1	0	0	0	14847	942	33	3	3003	3	SMG6	17	2202719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62821	2202719	78992491	16710	27027											
SMG6	23293	broad.mit.edu	37	chr17	2202763	2202763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagccgaggtcccaaaggCgcggactctggagaacctgc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000263073.6	-	2	1334	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_ENST00000544865.1_Silent_p.A397A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	428	Interaction with telomeric DNA.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1189-1191)gcG>gcA		SMG6 nonsense mediated mRNA decay factor							81	91	87					17																	2202763		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202763C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1284G>A	17.37:g.2202763C>T						SMG6_ENST00000263073.5_Silent_p.A428A	p.A397A			Q86US8	EST1A_HUMAN			2	1701	-			428			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1191G>A	CCDS11016.1																																																																																				0.547	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			113	572	0	0	0	1	0	113	572					T	2202763	C	T	2202763	2	4	79	1	0	0	0	0	0	0	0	1	14847	755	27	1		1	SMG6	17	2202763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	2202763	78992447	16711	27028											
SMG6	23293	broad.mit.edu	37	chr17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacgcctgttatctttgCgcggcctggcctcctttaat	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000263073.6	-	2	172	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	41	EJC-binding motif 1; mediates interaction with the EJC.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTATCTTTGCGCGGCCTGGC	0.473																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(28-30)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							51	54	53					17																	2203925		2202	4300	6502	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203925C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.122G>A	17.37:g.2203925C>T	ENSP00000263073:p.Arg41His					SMG6_ENST00000263073.5_Missense_Mutation_p.R41H	p.R10H			Q86US8	EST1A_HUMAN			2	539	-			41					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.29G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275492	0.59649	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13089	2.84;2.62	5.5	5.5	0.81552	.	0.132986	0.49916	D	0.000140	T	0.29256	0.0728	L	0.34521	1.04	0.41999	D	0.990885	D	0.89917	1.0	D	0.83275	0.996	T	0.01169	-1.1430	10	0.39692	T	0.17	-4.384	19.3907	0.94581	0.0:1.0:0.0:0.0	.	41	Q86US8	EST1A_HUMAN	H	41;10	ENSP00000263073:R41H;ENSP00000443920:R10H	ENSP00000263073:R41H	R	-	2	0	SMG6	2150675	0.998000	0.40836	0.999000	0.59377	0.925000	0.55904	4.288000	0.59007	2.569000	0.86673	0.655000	0.94253	CGC		0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			25	407	0	0	0	1	0	25	407					T	2203925	C	T	2203925	3	4	79	1	0	0	0	0	1	0	0	0	14847	768	27	1	4209	1	SMG6	17	2203925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1162	2203925	78991285	16712	27029											
SRR	63826	broad.mit.edu	37	chr17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggtggaggaggaatgCttgctggaatagcaattaca	14	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	190					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	AGGAGGAATGCTTGCTGGAAT	0.388																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(568-570)Ctt>Att		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						106	101	103					17																	2224884		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224884C>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.568C>A	17.37:g.2224884C>A	ENSP00000339435:p.Leu190Ile					SRR_ENST00000576848.1_Intron	p.L190I	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	886	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	190					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.568C>A	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	c	2.749	-0.260449	0.05791	.	.	ENSG00000167720	ENST00000344595	D	0.96396	-4.0	5.95	-4.59	0.03400	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.777035	0.12313	N	0.479999	D	0.83917	0.5358	N	0.03194	-0.395	0.20638	N	0.999872	B	0.02656	0.0	B	0.14578	0.011	T	0.78357	-0.2235	10	0.02654	T	1	1.469	7.3126	0.26483	0.401:0.2808:0.3182:0.0	.	190	Q9GZT4	SRR_HUMAN	I	190	ENSP00000339435:L190I	ENSP00000339435:L190I	L	+	1	0	SRR	2171634	0.167000	0.22975	0.866000	0.34008	0.944000	0.59088	-0.865000	0.04250	-0.596000	0.05821	-2.134000	0.00341	CTT		0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		48	258	1	0	5.22555e-25	1	5.98653e-25	48	258					A	2224884	C	A	2224884	3	1	79	1	0	0	0	0	1	0	0	0	15218	797	28	3	586	3	SRR	17	2224884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20959	2224884	78970326	16713	27030											
SRR	63826	broad.mit.edu	37	chr17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctccagaaaccatagCagatggtgtcaaatccagca	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	SRR_ENST00000576848.1_Missense_Mutation_p.A11V|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	237					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	GAAACCATAGCAGATGGTGTC	0.463																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(709-711)gCa>gTa		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						157	146	149					17																	2226545		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2226545C>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.710C>T	17.37:g.2226545C>T	ENSP00000339435:p.Ala237Val					SRR_ENST00000576848.1_3'UTR|TSR1_ENST00000301364.4_3'UTR	p.A237V	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	7	1028	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	237					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.710C>T	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694601	0.88830	.	.	ENSG00000167720	ENST00000344595	D	0.97455	-4.39	5.88	5.88	0.94601	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.224065	0.47455	N	0.000236	D	0.98704	0.9565	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.99421	1.0933	10	0.87932	D	0	-23.5163	19.2253	0.93816	0.0:1.0:0.0:0.0	.	237	Q9GZT4	SRR_HUMAN	V	237	ENSP00000339435:A237V	ENSP00000339435:A237V	A	+	2	0	SRR	2173295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.992000	0.63889	2.788000	0.95919	0.555000	0.69702	GCA		0.463	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		17	654	0	0	0	1	0	17	654					T	2226545	C	T	2226545	3	4	79	1	0	0	0	0	1	0	0	0	15218	710	25	2	732	2	SRR	17	2226545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1661	2226545	78968665	16714	27031											
SRR	63826	broad.mit.edu	37	chr17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactcattgaacctacaGctggtgttggagtggctgct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	SRR_ENST00000576848.1_Missense_Mutation_p.A60T|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	286					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TGAACCTACAGCTGGTGTTGG	0.453																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(856-858)Gct>Act		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						122	105	111					17																	2227000		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2227000G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.856G>A	17.37:g.2227000G>A	ENSP00000339435:p.Ala286Thr					SRR_ENST00000576848.1_3'UTR|TSR1_ENST00000301364.4_3'UTR	p.A286T	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	8	1174	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	286					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.856G>A	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181429	0.78677	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052350	0.85682	D	0.000000	D	0.97885	0.9305	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.98579	1.0649	10	0.87932	D	0	-3.5344	18.4444	0.90678	0.0:0.0:1.0:0.0	.	286	Q9GZT4	SRR_HUMAN	T	286	ENSP00000339435:A286T	ENSP00000339435:A286T	A	+	1	0	SRR	2173750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.267000	0.72546	2.602000	0.87976	0.557000	0.71058	GCT		0.453	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		44	198	0	0	0	1	0	44	198					A	2227000	G	A	2227000	3	1	79	1	0	0	0	0	1	0	0	0	15218	971	34	2	882	2	SRR	17	2227000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	2227000	78968210	16715	27032											
SGSM2	9905	broad.mit.edu	37	chr17	2265527	2265527	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggcgctcatcgagaaagttCtggacaaggtcgtgcaatac	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2265527C>A	ENST00000426855.2	+	4	596	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	SGSM2_ENST00000268989.3_Missense_Mutation_p.L141M|SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	141	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGAGAAAGTTCTGGACAAGGT	0.627																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(421-423)Ctg>Atg		small G protein signaling modulator 2							93	94	94					17																	2265527		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2265527C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.421C>A	17.37:g.2265527C>A	ENSP00000415107:p.Leu141Met					SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Missense_Mutation_p.L141M	p.L141M	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	598	+			141			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.421C>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612666	0.28712	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.67523	-0.27;-0.27	4.67	3.67	0.42095	RUN (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73319	2.225	0.80722	D	1	P;B;B	0.43662	0.814;0.359;0.421	B;B;B	0.44133	0.41;0.442;0.176	T	0.71560	-0.4556	10	0.87932	D	0	-6.9354	11.3737	0.49715	0.0:0.9069:0.0:0.0931	.	141;141;141	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	M	141	ENSP00000268989:L141M;ENSP00000415107:L141M	ENSP00000268989:L141M	L	+	1	2	SGSM2	2212277	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.664000	0.46783	1.028000	0.39785	0.205000	0.17691	CTG		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		17	599	1	0	0.00121646	1	0.00122896	17	599					A	2265527	C	A	2265527	3	1	79	1	0	0	0	0	1	0	0	0	14273	912	32	3	435	3	SGSM2	17	2265527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38527	2265527	78929683	16716	27033											
SGSM2	9905	broad.mit.edu	37	chr17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttgagctgatgcatcaGaatggagactacacccactt	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000426855.2	+	21	2878	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	901	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2836-2838)caG>caT		small G protein signaling modulator 2							218	183	195					17																	2281186		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2281186G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2703G>T	17.37:g.2281186G>T	ENSP00000415107:p.Gln901His					SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.Q901H	p.Q946H	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	22	3015	+			901					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2838G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.841965	0.51057	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.23147	1.92;1.92	6.04	3.73	0.42828	Rab-GAP/TBC domain (5);	0.216848	0.49305	D	0.000150	T	0.46833	0.1413	M	0.75447	2.3	0.47862	D	0.999531	D;D;D;D	0.69078	0.997;0.984;0.984;0.98	D;P;P;P	0.71414	0.973;0.876;0.876;0.844	T	0.48927	-0.8991	10	0.72032	D	0.01	-5.6589	9.9037	0.41364	0.2421:0.0:0.7579:0.0	.	901;901;901;946	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	946;901	ENSP00000268989:Q946H;ENSP00000415107:Q901H	ENSP00000268989:Q946H	Q	+	3	2	SGSM2	2227936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.766000	0.47629	1.542000	0.49330	0.651000	0.88453	CAG		0.537	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		69	385	1	0	2.25582e-47	1	2.77644e-47	69	385					T	2281186	G	T	2281186	3	4	79	1	0	0	0	0	1	0	0	0	14273	933	33	3	2924	3	SGSM2	17	2281186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15659	2281186	78914024	16717	27034											
SGSM2	9905	broad.mit.edu	37	chr17	2282335	2282335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttactctccgcagaactgCtgtatgaggatgtgtttgct	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	ENST00000426855.2	+	22	2945	c.2770C>T	c.(2770-2772)Ctg>Ttg	p.L924L	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L969L|SGSM2_ENST00000574563.1_Silent_p.L924L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	924	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCAGAACTGCTGTATGAGGA	0.607																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2905-2907)Ctg>Ttg		small G protein signaling modulator 2							131	92	105					17																	2282335		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2282335C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2770C>T	17.37:g.2282335C>T						SGSM2_ENST00000574563.1_Silent_p.L924L|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.L924L	p.L969L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	23	3082	+			924					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.2905C>T	CCDS45570.1																																																																																				0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		18	115	0	0	0	1	0	18	115					T	2282335	C	T	2282335	2	4	79	1	0	0	0	0	0	0	0	1	14273	796	28	2		2	SGSM2	17	2282335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1149	2282335	78912875	16718	27035											
SGSM2	9905	broad.mit.edu	37	chr17	2282760	2282760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgcccaggagatcctGcggattgcccgggacctcgt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000426855.2	+	23	3142	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L1034L|SGSM2_ENST00000574563.1_Intron	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	989					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3100-3102)ctG>ctA		small G protein signaling modulator 2							59	49	53					17																	2282760		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2282760G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2967G>A	17.37:g.2282760G>A						SGSM2_ENST00000574563.1_Intron|SGSM2_ENST00000426855.2_Silent_p.L989L	p.L1034L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	24	3279	+			989					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.3102G>A	CCDS45570.1																																																																																				0.622	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		29	133	0	0	0	1	0	29	133					A	2282760	G	A	2282760	2	1	79	1	0	0	0	0	0	0	0	1	14273	1306	46	2		2	SGSM2	17	2282760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425	2282760	78912450	16719	27036											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagggataaaactataAaaatgtgggaagtgcaaact	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(649-651)Aaa>Caa		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							97	89	92					17																	2576029		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2576029A>C	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.649A>C	17.37:g.2576029A>C	ENSP00000380378:p.Lys217Gln					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	p.K217Q	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			7	1100	+			217			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.649A>C	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567297	0.86439	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.83554	0.0103	10	0.87932	D	0	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	46;217	B4DF38;P43034	.;LIS1_HUMAN	Q	217;46;46	ENSP00000380378:K217Q;ENSP00000395628:K46Q	ENSP00000380377:K46Q	K	+	1	0	PAFAH1B1	2522779	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA		0.463	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		50	189	0	0	0	1	0	50	189					C	2576029	A	C	2576029	3	2	79	1	0	0	0	0	1	0	0	0	11426	15	1	4	671	4	PAFAH1B1	17	2576029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293269	2576029	78619181	16720	27037											
KIAA0664	23277	broad.mit.edu	37	chr17	2600078	2600078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggccgctggcgctgCtaccctcctcctcacttccc	9	20	1	0	rs553038940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2600078C>T	ENST00000570628.2	-	11	2111	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	CLUH_ENST00000435359.1_Missense_Mutation_p.S669N|CLUH_ENST00000538975.1_Missense_Mutation_p.S669N			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	669					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GCTGGCGCTGCTACCCTCCTC	0.657																																						ENST00000570628.1																			0											c.(2005-2007)aGc>aAc		clustered mitochondria (cluA/CLU1) homolog							47	52	50					17																	2600078		2077	4209	6286	SO:0001583	missense	23277							g.chr17:2600078C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2006G>A	17.37:g.2600078C>T	ENSP00000458986:p.Ser669Asn					CLUH_ENST00000538975.1_Missense_Mutation_p.S669N|CLUH_ENST00000435359.1_Missense_Mutation_p.S669N|CLUH_ENST00000575014.1_Missense_Mutation_p.S601N	p.S669N							11	2111	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2006G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389678	0.11581	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80566	-1.39;-1.39	4.93	4.93	0.64822	.	0.703229	0.15947	N	0.236886	T	0.66307	0.2776	N	0.25647	0.755	0.20703	N	0.999864	B;B	0.14012	0.002;0.009	B;B	0.08055	0.003;0.003	T	0.49093	-0.8975	10	0.29301	T	0.29	.	6.5436	0.22394	0.1837:0.7193:0.0:0.097	.	669;669	O75153;C9J6D7	K0664_HUMAN;.	N	669	ENSP00000388872:S669N;ENSP00000439628:S669N	ENSP00000320468:S669N	S	-	2	0	KIAA0664	2546828	0.138000	0.22547	0.133000	0.22050	0.058000	0.15608	3.160000	0.50739	2.673000	0.90976	0.591000	0.81541	AGC		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		55	219	0	0	0	1	0	55	219					T	2600078	C	T	2600078	3	4	79	1	0	0	0	0	1	0	0	0	8219	797	28	2	1987	2	KIAA0664	17	2600078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24049	2600078	78595132	16721	27038											
KIAA0664	23277	broad.mit.edu	37	chr17	2604557	2604557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggttgaagtgataagctgtgGacctgcagggagagggcggg	20	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2604557G>T	ENST00000570628.2	-	7	893	c.788C>A	c.(787-789)tCc>tAc	p.S263Y	CLUH_ENST00000435359.1_Missense_Mutation_p.S263Y|CLUH_ENST00000538975.1_Missense_Mutation_p.S263Y			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	263					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											ATAAGCTGTGGACCTGCAGGG	0.657																																						ENST00000570628.1																			0											c.(787-789)tCc>tAc		clustered mitochondria (cluA/CLU1) homolog							26	29	28					17																	2604557		1975	4155	6130	SO:0001583	missense	23277							g.chr17:2604557G>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.788C>A	17.37:g.2604557G>T	ENSP00000458986:p.Ser263Tyr					CLUH_ENST00000538975.1_Missense_Mutation_p.S263Y|CLUH_ENST00000435359.1_Missense_Mutation_p.S263Y|CLUH_ENST00000575014.1_Missense_Mutation_p.S195Y	p.S263Y							7	893	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.788C>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437338	0.62955	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.88975	-2.45;-2.45	4.74	4.74	0.60224	GSKIP/TIF31 domain (1);	0.107611	0.64402	D	0.000003	D	0.95695	0.8600	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.96713	0.9527	10	0.87932	D	0	.	16.8771	0.86054	0.0:0.0:1.0:0.0	.	263;263	O75153;C9J6D7	K0664_HUMAN;.	Y	263	ENSP00000388872:S263Y;ENSP00000439628:S263Y	ENSP00000320468:S263Y	S	-	2	0	KIAA0664	2551307	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	9.232000	0.95325	2.466000	0.83321	0.655000	0.94253	TCC		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		9	116	1	0	1.12685e-05	1	1.15515e-05	9	116					T	2604557	G	T	2604557	3	4	79	1	0	0	0	0	1	0	0	0	8219	1174	41	3	3221	3	KIAA0664	17	2604557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4479	2604557	78590653	16722	27039											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatttaccgacggagacGcccagcaggtaacctggttt	11	12	0	1	rs376964895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	346	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1036-1038)Gcc>Acc		RAP1 GTPase activating protein 2		G	THR/ALA,THR/ALA	1,4331	2.1+/-5.4	0,1,2165	61	63	62		991,1036	1.3	1	17		62	0,8584		0,0,4292	no	missense,missense	RAP1GAP2	NM_001100398.1,NM_015085.4	58,58	0,1,6457	AA,AG,GG		0.0,0.0231,0.0077	benign,benign	331/716,346/731	2898752	1,12915	2166	4292	6458	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2898752G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1036G>A	17.37:g.2898752G>A	ENSP00000254695:p.Ala346Thr					RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T	p.A346T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			13	1126	+			346			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1036G>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869383	0.32977	2.31E-4	0.0	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.72	1.34	0.21922	Rap/ran-GAP (2);	0.529823	0.23081	N	0.052147	D	0.83450	0.5257	N	0.05608	-0.01	0.30925	N	0.727525	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.72972	-0.4129	10	0.13853	T	0.58	-16.4671	7.4483	0.27223	0.6114:0.0:0.3886:0.0	.	331;346	Q684P5-2;Q684P5	.;RPGP2_HUMAN	T	346;331;327;346	ENSP00000254695:A346T;ENSP00000389824:A331T;ENSP00000439688:A327T;ENSP00000444890:A346T	ENSP00000254695:A346T	A	+	1	0	RAP1GAP2	2845502	0.021000	0.18746	0.984000	0.44739	0.997000	0.91878	1.245000	0.32790	0.271000	0.22005	0.655000	0.94253	GCC		0.607	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			64	307	0	0	0	1	0	64	307					A	2898752	G	A	2898752	3	1	79	1	0	0	0	0	1	0	0	0	13088	1087	38	1	1086	1	RAP1GAP2	17	2898752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294195	2898752	78296458	16723	27040											
OR1D2	4991	broad.mit.edu	37	chr17	2995640	2995640	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgataatcagcacataGgaaatgatcacgaatccaaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	ENST00000331459.1	-	1	650	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	217					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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCAGCACATAGGAAATGATCA	0.468																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(649-651)tcC>tcA		olfactory receptor, family 1, subfamily D, member 2							111	109	110					17																	2995640		2203	4300	6503	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995640G>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.651C>A	17.37:g.2995640G>T							p.S217S	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	650	-			217					Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.651C>A	CCDS11019.1																																																																																				0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		18	440	1	0	2.48551e-13	1	2.68178e-13	18	440					T	2995640	G	T	2995640	2	4	79	1	0	0	0	0	0	0	0	1	10995	987	35	3		3	OR1D2	17	2995640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96888	2995640	78199570	16724	27041											
OR1E1	8387	broad.mit.edu	37	chr17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctctgttcctcaggCtgtagatgaaggggttcagc	12	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	291					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)			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(871-873)aGc>aTc		olfactory receptor, family 1, subfamily E, member 1							89	84	86					17																	3300833		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3300833C>A	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.872G>T	17.37:g.3300833C>A	ENSP00000313384:p.Ser291Ile						p.S291I	NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN			1	871	-			291					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.872G>T	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000180016	ENST00000322608	T	0.36878	1.23	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.80183	2.485	0.48696	D	0.999691	D	0.62365	0.991	P	0.60682	0.878	T	0.66559	-0.5893	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	291	P30953	OR1E1_HUMAN	I	291	ENSP00000313384:S291I	ENSP00000313384:S291I	S	-	2	0	OR1E1	3247583	0.930000	0.31532	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.449000	0.82847	0.591000	0.81541	AGC		0.443	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		59	277	1	0	5.5144e-22	1	6.22847e-22	59	277					A	3300833	C	A	3300833	3	1	79	1	0	0	0	0	1	0	0	0	10996	797	28	3	76	3	OR1E1	17	3300833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305193	3300833	77894377	16725	27042											
OR1E1	8387	broad.mit.edu	37	chr17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatggaaggtggtcagcacCcaggacagcgccaccagggc	15	13	1	0	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	149					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)			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(445-447)tgG>tgT		olfactory receptor, family 1, subfamily E, member 1							84	66	72					17																	3301258		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301258C>A	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.447G>T	17.37:g.3301258C>A	ENSP00000313384:p.Trp149Cys						p.W149C	NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN			1	446	-			149					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.447G>T	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945301	0.53079	.	.	ENSG00000180016	ENST00000322608	T	0.59638	0.25	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.80065	0.4555	M	0.91510	3.215	0.58432	D	0.999996	D	0.57257	0.979	D	0.65987	0.94	D	0.85183	0.1005	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	149	P30953	OR1E1_HUMAN	C	149	ENSP00000313384:W149C	ENSP00000313384:W149C	W	-	3	0	OR1E1	3248008	0.035000	0.19736	1.000000	0.80357	0.776000	0.43924	0.570000	0.23653	2.449000	0.82847	0.591000	0.81541	TGG		0.547	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		37	225	1	0	3.61848e-18	1	4.01023e-18	37	225					A	3301258	C	A	3301258	3	1	79	1	0	0	0	0	1	0	0	0	10996	624	22	3	501	3	OR1E1	17	3301258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425	3301258	77893952	16726	27043											
SPATA22	84690	broad.mit.edu	37	chr17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttgttcagaaacagacGccggtctgacagaaacacat	8	9	2	4	rs377104896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15473	0.0		0.0	False		,,,				2504	0.0					ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(1000-1002)gCg>gTg		spermatogenesis associated 22		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66	72	70		1001,872,1001,1001,,1001	5.7	1	17		70	0,8600		0,0,4300	no	missense,missense,missense,missense,utr-3,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	64,64,64,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	334/364,291/321,334/364,334/364,,334/364	3343532	2,13004	2203	4300	6503	SO:0001583	missense	84690							g.chr17:3343532G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1001C>T	17.37:g.3343532G>A	ENSP00000459580:p.Ala334Val					SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V	p.A334V			Q8NHS9	SPT22_HUMAN			9	1484	-			334					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.1001C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886862	0.91814	4.54E-4	0.0	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	.	0.256413	0.31542	N	0.007477	T	0.43122	0.1233	N	0.19112	0.55	0.39359	D	0.965891	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.57324	0.818;0.818;0.818	T	0.44205	-0.9343	10	0.87932	D	0	-19.6519	19.2308	0.93839	0.0:0.0:1.0:0.0	.	318;291;334	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	291;334;318	ENSP00000347541:A291V;ENSP00000380354:A334V;ENSP00000441920:A318V	ENSP00000347541:A291V	A	-	2	0	SPATA22	3290282	1.000000	0.71417	0.992000	0.48379	0.875000	0.50365	5.895000	0.69814	2.868000	0.98415	0.557000	0.71058	GCG		0.378	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		41	355	0	0	0	1	0	41	355					A	3343532	G	A	3343532	3	1	79	1	0	0	0	0	1	0	0	0	15060	1087	38	1	94	1	SPATA22	17	3343532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42274	3343532	77851678	16727	27044											
SPATA22	84690	broad.mit.edu	37	chr17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttcgaataatatgggCcaggtgtaacagctgaatca	10	7	2	1	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(829-831)gGc>gAc		spermatogenesis associated 22		C	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,,ASP/GLY	0,4404		0,0,2202	66	59	62		830,701,830,830,,830	5.3	0.7	17	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,intron,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	94,94,94,94,,94	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	277/364,234/321,277/364,277/364,,277/364	3346538	1,13001	2202	4299	6501	SO:0001583	missense	84690							g.chr17:3346538C>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.830G>A	17.37:g.3346538C>T	ENSP00000459580:p.Gly277Asp					SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D	p.G277D			Q8NHS9	SPT22_HUMAN			8	1313	-			277					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.830G>A	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268539	0.80469	0.0	1.16E-4	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.80033	-1.33;-1.33;-1.33	5.32	5.32	0.75619	.	0.074384	0.49916	D	0.000135	D	0.84524	0.5491	L	0.27053	0.805	0.41576	D	0.988713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.86378	0.1727	10	0.66056	D	0.02	-10.3436	18.3541	0.90351	0.0:1.0:0.0:0.0	.	261;234;277	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	234;277;261	ENSP00000347541:G234D;ENSP00000380354:G277D;ENSP00000441920:G261D	ENSP00000347541:G234D	G	-	2	0	SPATA22	3293288	0.999000	0.42202	0.684000	0.30055	0.882000	0.50991	4.425000	0.59875	2.660000	0.90430	0.557000	0.71058	GGC		0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		22	117	0	0	0	1	0	22	117					T	3346538	C	T	3346538	3	4	79	1	0	0	0	0	1	0	0	0	15060	739	26	2	269	2	SPATA22	17	3346538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3006	3346538	77848672	16728	27045											
TRPV3	162514	broad.mit.edu	37	chr17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaaagtggaaccaggcatCcgagaggatggactgcagat	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000576742.1	-	12	1876	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000301365.4_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	519					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1555-1557)Gat>Aat		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147	89	109					17																	3430170		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3430170C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1555G>A	17.37:g.3430170C>T	ENSP00000461518:p.Asp519Asn					TRPV3_ENST00000576742.1_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N	p.D519N			Q8NET8	TRPV3_HUMAN			12	1686	-			519					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1555G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	33	5.217613	0.95104	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.98717	-5.09	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.98416	0.9473	L	0.33189	0.99	0.44352	D	0.997246	D;P;D;D;D;D;D;D	0.89917	1.0;0.607;0.975;1.0;0.975;0.996;0.999;0.998	D;B;P;D;D;D;D;D	0.91635	0.998;0.12;0.893;0.999;0.919;0.993;0.997;0.995	D	0.99914	1.1215	10	0.72032	D	0.01	-9.1066	17.5751	0.87946	0.0:1.0:0.0:0.0	.	101;503;503;519;503;519;519;519	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	N	519;519;503	ENSP00000301365:D519N	ENSP00000301365:D519N	D	-	1	0	TRPV3	3376920	0.999000	0.42202	0.950000	0.38849	0.968000	0.65278	5.187000	0.65087	2.482000	0.83794	0.638000	0.83543	GAT		0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		19	65	0	0	0	1	0	19	65					T	3430170	C	T	3430170	3	4	79	1	0	0	0	0	1	0	0	0	16650	855	30	2	845	2	TRPV3	17	3430170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83632	3430170	77765040	16729	27046											
TRPV3	162514	broad.mit.edu	37	chr17	3435984	3435984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggcggccagctgcagCggcgtgaggccatcgttgtt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000576742.1	-	8	1353	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000301365.4_Silent_p.P344P|TRPV3_ENST00000572519.1_Silent_p.P344P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	344					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1030-1032)ccG>ccA		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						80	63	69					17																	3435984		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3435984C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1032G>A	17.37:g.3435984C>T						TRPV3_ENST00000576742.1_Silent_p.P344P|TRPV3_ENST00000572519.1_Silent_p.P344P	p.P344P			Q8NET8	TRPV3_HUMAN			8	1163	-			344					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.1032G>A	CCDS11029.1																																																																																				0.632	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		34	201	0	0	0	1	0	34	201					T	3435984	C	T	3435984	2	4	79	1	0	0	0	0	0	0	0	1	16650	755	27	1		1	TRPV3	17	3435984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5814	3435984	77759226	16730	27047											
TRPV1	7442	broad.mit.edu	37	chr17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgcttacccctcggaaaaaGaagtagactcctcctaacac	6	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000571088.1	-	9	1677	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	488					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGGAAAAAGAAGTAGACTC	0.433																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1456-1458)ttC>ttA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						61	58	59					17																	3486644		1951	4142	6093	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3486644G>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1464C>A	17.37:g.3486644G>T	ENSP00000461007:p.Phe488Leu					TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F488L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L	p.F486L			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	8	1747	-			488					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.1458C>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411757	0.25465	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.17	-0.805	0.10879	.	0.046853	0.85682	D	0.000000	D	0.87529	0.6200	L	0.43923	1.385	0.54753	D	0.999989	B;B;B;B	0.19200	0.002;0.034;0.017;0.018	B;B;B;B	0.18561	0.02;0.022;0.019;0.015	T	0.75628	-0.3252	10	0.21540	T	0.41	-13.2472	10.7786	0.46365	0.4285:0.0:0.5715:0.0	.	488;486;428;499	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	488;488;486;499;428	ENSP00000382661:F488L;ENSP00000382659:F488L;ENSP00000174621:F486L;ENSP00000409627:F499L;ENSP00000311692:F428L	ENSP00000174621:F486L	F	-	3	2	TRPV1	3433393	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.302000	0.33459	-0.007000	0.14345	-0.302000	0.09304	TTC		0.433	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		15	55	1	0	1.67942e-08	1	1.75525e-08	15	55					T	3486644	G	T	3486644	3	4	79	1	0	0	0	0	1	0	0	0	16648	933	33	3	760	3	TRPV1	17	3486644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50660	3486644	77708566	16731	27048											
TRPV1	7442	broad.mit.edu	37	chr17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccccatgggccgcagcCtggacgtctgctccgttctc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000571088.1	-	5	900	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	229					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(679-681)caG>caT		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						71	78	75					17																	3493604		2106	4229	6335	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493604C>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.687G>T	17.37:g.3493604C>A	ENSP00000461007:p.Gln229His					TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000571088.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H	p.Q227H			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	970	-			229					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.681G>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038881	0.02013	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.12	4.04	0.47022	Ankyrin repeat-containing domain (4);	0.047547	0.85682	D	0.000000	T	0.29556	0.0737	N	0.02286	-0.61	0.34797	D	0.736369	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.38045	-0.9679	10	0.02654	T	1	-12.4387	10.4822	0.44700	0.3709:0.6291:0.0:0.0	.	229;227;229;229	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	229;229;227;229;229	ENSP00000382661:Q229H;ENSP00000382659:Q229H;ENSP00000174621:Q227H;ENSP00000409627:Q229H;ENSP00000311692:Q229H	ENSP00000174621:Q227H	Q	-	3	2	TRPV1	3440353	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	0.683000	0.25349	2.555000	0.86185	0.467000	0.42956	CAG		0.582	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		42	366	1	0	4.06502e-11	1	4.33256e-11	42	366					A	3493604	C	A	3493604	3	1	79	1	0	0	0	0	1	0	0	0	16648	680	24	3	1553	3	TRPV1	17	3493604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6960	3493604	77701606	16732	27049											
TRPV1	7442	broad.mit.edu	37	chr17	3493618	3493618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcctggacgtctgctcCgttctccaccaggagggtca	12	15	3	0	rs199693737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493618C>T	ENST00000571088.1	-	5	886	c.673G>A	c.(673-675)Gga>Aga	p.G225R	TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000174621.6_Missense_Mutation_p.G223R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R|TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R|TRPV1_ENST00000310522.5_Missense_Mutation_p.G225R	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	225					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGTCTGCTCCGTTCTCCACC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.0				Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(667-669)Gga>Aga		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	3,4269		0,3,2133	72	78	76		673,673,673,673	5.3	1	17		76	0,8488		0,0,4244	no	missense,missense,missense,missense	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	125,125,125,125	0,3,6377	TT,TC,CC		0.0,0.0702,0.0235	probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/840,225/840,225/840,225/840	3493618	3,12757	2136	4244	6380	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493618C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.673G>A	17.37:g.3493618C>T	ENSP00000461007:p.Gly225Arg					TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|TRPV1_ENST00000310522.5_Missense_Mutation_p.G225R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000571088.1_Missense_Mutation_p.G225R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R	p.G223R			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	956	-			225					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.667G>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403160	0.83230	7.02E-4	0.0	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;D;D	0.81659	-1.21;-1.21;-1.21;-1.52;-1.52	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.153946	0.64402	D	0.000015	D	0.89691	0.6788	M	0.73753	2.245	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	0.90562	0.4516	10	0.87932	D	0	-8.0962	18.2953	0.90143	0.0:1.0:0.0:0.0	.	225;223;225;225	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	R	225;225;223;225;225	ENSP00000382661:G225R;ENSP00000382659:G225R;ENSP00000174621:G223R;ENSP00000409627:G225R;ENSP00000311692:G225R	ENSP00000174621:G223R	G	-	1	0	TRPV1	3440367	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.366000	0.79548	2.641000	0.89580	0.591000	0.81541	GGA		0.597	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		34	331	0	0	0	1	0	34	331					T	3493618	C	T	3493618	3	4	79	1	0	0	0	0	1	0	0	0	16648	661	23	1	1567	1	TRPV1	17	3493618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	3493618	77701592	16733	27050											
SHPK	23729	broad.mit.edu	37	chr17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcactgaggccagctggtCcggcaggtgcctctccccca	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	380					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1138-1140)Gac>Aac		sedoheptulokinase							77	72	74					17																	3514153		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514153C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1138G>A	17.37:g.3514153C>T	ENSP00000225519:p.Asp380Asn						p.D380N	NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1240	-			380					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1138G>A	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104741	0.37145	.	.	ENSG00000197417	ENST00000225519	T	0.18657	2.2	5.2	5.2	0.72013	.	0.332700	0.35179	N	0.003389	T	0.22360	0.0539	L	0.55990	1.75	0.29187	N	0.876141	B	0.20671	0.047	B	0.20955	0.032	T	0.15694	-1.0428	10	0.11182	T	0.66	-25.8882	18.1093	0.89530	0.0:1.0:0.0:0.0	.	380	Q9UHJ6	SHPK_HUMAN	N	380	ENSP00000225519:D380N	ENSP00000225519:D380N	D	-	1	0	SHPK	3460902	0.942000	0.31987	0.971000	0.41717	0.805000	0.45488	1.863000	0.39459	2.606000	0.88127	0.563000	0.77884	GAC		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			95	458	0	0	0	1	0	95	458					T	3514153	C	T	3514153	3	4	79	1	0	0	0	0	1	0	0	0	14340	855	30	2	302	2	SHPK	17	3514153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20535	3514153	77681057	16734	27051											
CTNS	1497	broad.mit.edu	37	chr17	3559853	3559853	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctacagtgtattcaacatCggcctcctctgggtgcccta	9	14	2	0	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000046640.3	+	8	1127	c.534C>T	c.(532-534)atC>atT	p.I178I	CTNS_ENST00000381870.3_Silent_p.I178I|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.I31I|CTNS_ENST00000441220.2_Silent_p.I70I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	178	PQ-loop 1.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12012	0.0		0.0	False		,,,				2504	0.0					ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(532-534)atC>atT		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)	C	,	5,4399	11.4+/-27.6	0,5,2197	150	109	123		534,534	-5.2	0.9	17	dbSNP_132	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTNS	NM_001031681.2,NM_004937.2	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	178/401,178/368	3559853	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3559853C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.534C>T	17.37:g.3559853C>T						CTNS_ENST00000414524.2_Silent_p.I31I|CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000441220.2_Silent_p.I70I|RP11-235E17.6_ENST00000575741.1_RNA	p.I178I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	8	1127	+			178			PQ-loop 1.		D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.534C>T	CCDS11031.1																																																																																				0.612	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		45	186	0	0	0	1	0	45	186					T	3559853	C	T	3559853	2	4	79	1	0	0	0	0	0	0	0	1	4032	874	31	1		1	CTNS	17	3559853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45700	3559853	77635357	16735	27052											
P2RX5	5026	broad.mit.edu	37	chr17	3595050	3595050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcactctgcagggaggtgTcgacgtcttggtaacccttc	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3595050T>C	ENST00000225328.5	-	2	574	c.176A>G	c.(175-177)gAc>gGc	p.D59G	P2RX5_ENST00000550772.1_5'Flank|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552276.1_Missense_Mutation_p.D59G|P2RX5_ENST00000551178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552050.1_Missense_Mutation_p.D23G|P2RX5_ENST00000547178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000345901.3_Missense_Mutation_p.D59G|P2RX5_ENST00000435558.1_Missense_Mutation_p.D59G	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	59					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGGGAGGTGTCGACGTCTTG	0.597																																						ENST00000550383.1																			0											c.(175-177)gAc>gGc									183	158	167					17																	3595050		2203	4300	6503	SO:0001583	missense	0							g.chr17:3595050T>C	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.176A>G	17.37:g.3595050T>C	ENSP00000225328:p.Asp59Gly					P2RX5_ENST00000435558.1_Missense_Mutation_p.D59G|P2RX5_ENST00000551178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552050.1_Missense_Mutation_p.D23G|P2RX5_ENST00000552276.1_Missense_Mutation_p.D59G|P2RX5_ENST00000345901.3_Missense_Mutation_p.D59G|P2RX5_ENST00000547178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000225328.5_Missense_Mutation_p.D59G	p.D59G							2	364	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.176A>G	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.565856	0.86439	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	5.13	5.13	0.70059	.	.	.	.	.	T	0.32041	0.0816	M	0.83953	2.67	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;0.995;0.997;0.995;0.997;0.997	D;D;D;D;D;D	0.91635	0.999;0.917;0.974;0.917;0.991;0.974	T	0.11275	-1.0594	9	0.87932	D	0	-13.61	14.479	0.67567	0.0:0.0:0.0:1.0	.	23;59;59;59;59;59	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	G	59;59;59;59;59;23;59	ENSP00000415370:D59G;ENSP00000447545:D59G;ENSP00000448355:D59G;ENSP00000225328:D59G;ENSP00000342161:D59G;ENSP00000450006:D23G	ENSP00000225328:D59G	D	-	2	0	P2RX5	3541799	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	8.001000	0.88508	2.079000	0.62486	0.456000	0.33151	GAC		0.597	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		137	692	0	0	0	1	0	137	692					C	3595050	T	C	3595050	3	2	79	1	0	0	0	0	1	0	0	0	11385	1667	58	4	1140	4	P2RX5	17	3595050	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35197	3595050	77600160	16736	27053											
GSG2	83903	broad.mit.edu	37	chr17	3628546	3628546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctcttggcactcctcCtctatgtatttgctaagccc	6	16	2	0	rs143089901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	439					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCACTCCTCCTCTATGTATT	0.463																																						ENST00000325418.4																			0											c.(1315-1317)tcC>tcA		germ cell associated 2 (haspin)							113	109	111					17																	3628546		2203	4300	6503	SO:0001819	synonymous_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628546C>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1317C>A	17.37:g.3628546C>A						ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S439S	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1336	+			439					Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	c.1317C>A	CCDS11036.1																																																																																				0.463	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		52	507	1	0	1.86277e-20	1	2.08787e-20	52	507					A	3628546	C	A	3628546	2	1	79	1	0	0	0	0	0	0	0	1	6852	668	24	3		3	GSG2	17	3628546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33496	3628546	77566664	16737	27054											
GSG2	83903	broad.mit.edu	37	chr17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagagatcatcatcTccaaagagttgagcctctta	7	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GATCATCATCTCCAAAGAGTT	0.473																																						ENST00000325418.4																			0											c.(1615-1617)Tcc>Ccc		germ cell associated 2 (haspin)							74	69	71					17																	3628844		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628844T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1615T>C	17.37:g.3628844T>C	ENSP00000325290:p.Ser539Pro					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S539P	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1634	+			539			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1615T>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734608	0.69189	.	.	ENSG00000177602	ENST00000325418	T	0.66099	-0.19	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218716	0.30356	N	0.009804	T	0.74275	0.3695	L	0.58428	1.81	0.51482	D	0.999925	D	0.89917	1.0	D	0.74023	0.982	T	0.77112	-0.2708	10	0.87932	D	0	-29.5602	12.8971	0.58106	0.0:0.0:0.0:1.0	.	539	Q8TF76	HASP_HUMAN	P	539	ENSP00000325290:S539P	ENSP00000325290:S539P	S	+	1	0	GSG2	3575593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.871000	0.69628	2.139000	0.66308	0.533000	0.62120	TCC		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		74	360	0	0	0	1	0	74	360					C	3628844	T	C	3628844	3	2	79	1	0	0	0	0	1	0	0	0	6852	1551	54	4	1617	4	GSG2	17	3628844	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	298	3628844	77566366	16738	27055											
ITGAE	3682	broad.mit.edu	37	chr17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggtgtgggtctcgttggCcaaagaccgtctttcattgg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	953					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTCTCGTTGGCCAAAGACCGT	0.493																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2857-2859)Gcc>Tcc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							219	174	189					17																	3632827		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3632827C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2857G>T	17.37:g.3632827C>A	ENSP00000263087:p.Ala953Ser					ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	p.A953S	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	24	2955	-			953					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2857G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637074	0.14386	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	4.19	3.17	0.36434	Integrin alpha-2 (1);	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P	0.47191	0.891	B	0.40199	0.322	T	0.05007	-1.0912	9	0.09338	T	0.73	.	9.5334	0.39207	0.2294:0.7706:0.0:0.0	.	953	P38570	ITAE_HUMAN	S	953	ENSP00000263087:A953S	ENSP00000263087:A953S	A	-	1	0	ITGAE	3579576	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.818000	0.27295	1.261000	0.44149	0.655000	0.94253	GCC		0.493	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		70	371	1	0	3.4779e-39	1	4.20191e-39	70	371					A	3632827	C	A	3632827	3	1	79	1	0	0	0	0	1	0	0	0	7915	739	26	3	714	3	ITGAE	17	3632827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3983	3632827	77562383	16739	27056											
ITGAE	3682	broad.mit.edu	37	chr17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtctggagctggtagCtgactttgacactggcattg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	788					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGGTAGCTGACTTTGAC	0.577																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2362-2364)aGc>aAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							204	174	184					17																	3646868		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3646868C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2363G>A	17.37:g.3646868C>T	ENSP00000263087:p.Ser788Asn						p.S788N	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	19	2461	-			788					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2363G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307908	0.01342	.	.	ENSG00000083457	ENST00000263087	T	0.40225	1.04	4.9	0.389	0.16269	Integrin alpha-2 (1);	.	.	.	.	T	0.30572	0.0769	M	0.66939	2.045	0.24812	N	0.992634	B	0.28419	0.211	B	0.28465	0.09	T	0.36648	-0.9739	9	0.02654	T	1	.	3.6759	0.08291	0.1588:0.4428:0.3085:0.0899	.	788	P38570	ITAE_HUMAN	N	788	ENSP00000263087:S788N	ENSP00000263087:S788N	S	-	2	0	ITGAE	3593617	0.953000	0.32496	0.998000	0.56505	0.100000	0.18952	-0.208000	0.09371	-0.052000	0.13311	-0.178000	0.13098	AGC		0.577	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		153	751	0	0	0	1	0	153	751					T	3646868	C	T	3646868	3	4	79	1	0	0	0	0	1	0	0	0	7915	797	28	2	1228	2	ITGAE	17	3646868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14041	3646868	77548342	16740	27057											
ITGAE	3682	broad.mit.edu	37	chr17	3655126	3655126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgggcattggtgaaccCggggtgcccactcagtatgc	14	11	1	1	rs149540181	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3655126C>T	ENST00000263087.4	-	15	1809	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	571					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTGGTGAACCCGGGGTGCCCA	0.567													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17693	0.0		0.001	False		,,,				2504	0.001				NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1711-1713)Ggg>Agg		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	60	64	63		1711	-0.2	0	17	dbSNP_134	63	31,8569	21.0+/-64.5	0,31,4269	yes	missense	ITGAE	NM_002208.4	125	0,34,6469	TT,TC,CC		0.3605,0.0681,0.2614	benign	571/1180	3655126	34,12972	2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3655126C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1711G>A	17.37:g.3655126C>T	ENSP00000263087:p.Gly571Arg						p.G571R	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	15	1809	-			571					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1711G>A	CCDS32531.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	10.95	1.494602	0.26774	6.81E-4	0.003605	ENSG00000083457	ENST00000263087	T	0.36699	1.24	3.89	-0.147	0.13428	.	.	.	.	.	T	0.27349	0.0671	L	0.52823	1.66	0.09310	N	1	B	0.26041	0.14	B	0.16289	0.015	T	0.27839	-1.0062	9	0.56958	D	0.05	.	3.6205	0.08093	0.0:0.4438:0.279:0.2773	.	571	P38570	ITAE_HUMAN	R	571	ENSP00000263087:G571R	ENSP00000263087:G571R	G	-	1	0	ITGAE	3601875	0.000000	0.05858	0.002000	0.10522	0.113000	0.19764	-0.880000	0.04183	0.239000	0.21243	0.555000	0.69702	GGG		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		68	362	0	0	0	1	0	68	362					T	3655126	C	T	3655126	3	4	79	1	0	0	0	0	1	0	0	0	7915	652	23	1	1896	1	ITGAE	17	3655126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8258	3655126	77540084	16741	27058											
C17orf85	55421	broad.mit.edu	37	chr17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccctgtgatccactTtcttcgtattcttttctttg	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000389005.4	-	13	1712	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	562							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(844-846)aAa>aCa		chromosome 17 open reading frame 85							158	152	154					17																	3716516		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3716516T>G		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1685A>C	17.37:g.3716516T>G	ENSP00000373657:p.Lys562Thr					C17orf85_ENST00000389005.4_Missense_Mutation_p.K562T	p.K282T			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1740	-			562					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.845A>C	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159664	0.38119	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.61	5.61	0.85477	.	0.189830	0.56097	D	0.000031	T	0.37433	0.1003	N	0.24115	0.695	0.43896	D	0.996521	B	0.33694	0.421	B	0.24848	0.056	T	0.33189	-0.9878	9	0.51188	T	0.08	-19.2377	14.0665	0.64834	0.0:0.0:0.0:1.0	.	562	Q53F19	CQ085_HUMAN	T	562;282	.	ENSP00000158149:K282T	K	-	2	0	C17orf85	3663265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.725000	0.54970	2.281000	0.76405	0.533000	0.62120	AAA		0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		140	584	0	0	0	1	0	140	584					G	3716516	T	G	3716516	3	3	79	1	0	0	0	0	1	0	0	0	1894	1841	64	4	181	4	C17orf85	17	3716516	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61390	3716516	77478694	16742	27059											
C17orf85	55421	broad.mit.edu	37	chr17	3717766	3717766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtctttttcctaaccGctggcgtatatctgaaaaaa	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3717766G>A	ENST00000389005.4	-	12	1504	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	C17orf85_ENST00000158149.3_Missense_Mutation_p.R213W	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	493							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTTCCTAACCGCTGGCGTATA	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(637-639)Cgg>Tgg		chromosome 17 open reading frame 85							73	64	67					17																	3717766		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3717766G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1477C>T	17.37:g.3717766G>A	ENSP00000373657:p.Arg493Trp					C17orf85_ENST00000389005.4_Missense_Mutation_p.R493W	p.R213W			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	13	1532	-			493					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.637C>T	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993565	0.74703	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.57	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66551	-0.5895	9	0.87932	D	0	-11.0123	11.1156	0.48258	0.0:0.0:0.5113:0.4887	.	493	Q53F19	CQ085_HUMAN	W	493;213	.	ENSP00000158149:R213W	R	-	1	2	C17orf85	3664515	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.328000	0.43867	1.470000	0.48102	-0.321000	0.08615	CGG		0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	251	0	0	0	1	0	7	251					A	3717766	G	A	3717766	3	1	79	1	0	0	0	0	1	0	0	0	1894	1086	38	1	393	1	C17orf85	17	3717766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1250	3717766	77477444	16743	27060											
C17orf85	55421	broad.mit.edu	37	chr17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcgtcagcatacataGtcattttcatgcttttcttt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000389005.4	-	10	1295	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	423							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(427-429)aCt>aAt		chromosome 17 open reading frame 85							86	86	86					17																	3721599		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3721599G>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1268C>A	17.37:g.3721599G>T	ENSP00000373657:p.Thr423Asn					C17orf85_ENST00000389005.4_Missense_Mutation_p.T423N	p.T143N			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1323	-			423					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.428C>A	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862316	0.91511	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68911	-0.5284	9	0.66056	D	0.02	-16.0792	17.8291	0.88676	0.0:0.0:1.0:0.0	.	423	Q53F19	CQ085_HUMAN	N	423;143	.	ENSP00000158149:T143N	T	-	2	0	C17orf85	3668348	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.855000	0.92236	2.894000	0.99253	0.591000	0.81541	ACT		0.338	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		81	441	1	0	2.05912e-35	1	2.45818e-35	81	441					T	3721599	G	T	3721599	3	4	79	1	0	0	0	0	1	0	0	0	1894	1029	36	3	610	3	C17orf85	17	3721599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3721599	77473611	16744	27061											
CAMKK1	84254	broad.mit.edu	37	chr17	3785616	3785616	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagggagtggggcttgGcgatatttgttgaatctaac	15	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3785616G>A	ENST00000348335.2	-	7	834				CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A245V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A245V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGGGGCTTGGCGATATTTGT	0.562																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(733-735)gCc>gTc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							121	117	118					17																	3785616		2203	4300	6503	SO:0001627	intron_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3785616G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.685+205C>T	17.37:g.3785616G>A						CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A245V	p.A245V			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	8	881	-			228			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.734C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060710	0.36373	.	.	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.73681	-0.77;-0.76	3.79	3.79	0.43588	.	.	.	.	.	T	0.60818	0.2298	N	0.21324	0.655	0.09310	N	1	B	0.18310	0.027	B	0.21546	0.035	T	0.46512	-0.9186	9	0.27082	T	0.32	-0.9455	11.4467	0.50127	0.0:0.0:1.0:0.0	.	245	F8W9H1	.	V	245	ENSP00000371190:A245V;ENSP00000158166:A245V	ENSP00000158166:A245V	A	-	2	0	CAMKK1	3732365	0.002000	0.14202	0.047000	0.18901	0.263000	0.26337	1.137000	0.31479	2.416000	0.81992	0.655000	0.94253	GCC		0.562	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		57	330	0	0	0	1	0	57	330					A	3785616	G	A	3785616	1	1	79	0	1	0	0	0	0	0	0	0	2613	1203	42	2		2	CAMKK1	17	3785616	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64017	3785616	77409594	16745	27062											
P2RX1	5023	broad.mit.edu	37	chr17	3801339	3801339	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctcagcgtatttgaacttCttctgcttgtagtagtgcct	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	366					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATTTGAACTTCTTCTGCTTGT	0.607																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(1096-1098)aaG>aaA		purinergic receptor P2X, ligand-gated ion channel, 1							105	108	107					17																	3801339		2203	4300	6503	SO:0001819	synonymous_variant	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3801339C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1098G>A	17.37:g.3801339C>T							p.K366K	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	11	1372	-			366					Q9UK84	Silent	SNP	ENST00000225538.3	37	c.1098G>A	CCDS11040.1																																																																																				0.607	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		21	822	0	0	0	1	0	21	822					T	3801339	C	T	3801339	2	4	79	1	0	0	0	0	0	0	0	1	11381	912	32	2		2	P2RX1	17	3801339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15723	3801339	77393871	16746	27063											
ATP2A3	489	broad.mit.edu	37	chr17	3844772	3844772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcgtccagctccatgtcCtccttccttgggggcgcgtc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000352011.3	-	13	1776	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.E574E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	574					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCCATGTCCTCCTTCCTTG	0.642																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1720-1722)gaG>gaA		ATPase, Ca++ transporting, ubiquitous							99	95	96					17																	3844772		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844772C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1722G>A	17.37:g.3844772C>T						ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000352011.3_Silent_p.E574E	p.E574E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1872	-			574					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1722G>A	CCDS11041.1																																																																																				0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		123	600	0	0	0	1	0	123	600					T	3844772	C	T	3844772	2	4	79	1	0	0	0	0	0	0	0	1	1139	680	24	2		2	ATP2A3	17	3844772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43433	3844772	77350438	16747	27064											
ATP2A3	489	broad.mit.edu	37	chr17	3854899	3854899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgcccacaatggcgttGgccacgaggatcagcatgat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000352011.3	-	4	354	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.A100A			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	100					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAATGGCGTTGGCCACGAGGA	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(298-300)gcC>gcT		ATPase, Ca++ transporting, ubiquitous							38	28	32					17																	3854899		2200	4299	6499	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3854899G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.300C>T	17.37:g.3854899G>A						ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000352011.3_Silent_p.A100A	p.A100A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	4	450	-			100					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.300C>T	CCDS11041.1																																																																																				0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		19	79	0	0	0	1	0	19	79					A	3854899	G	A	3854899	2	1	79	1	0	0	0	0	0	0	0	1	1139	1335	47	2		2	ATP2A3	17	3854899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10127	3854899	77340311	16748	27065											
ZZEF1	23140	broad.mit.edu	37	chr17	3912991	3912991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtcctcaaacaggccGtactccatgtgggtaaagag	11	11	2	1	rs373997187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2880							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAACAGGCCGTACTCCATGT	0.612																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8638-8640)taC>taT		zinc finger, ZZ-type with EF-hand domain 1		G		0,4406		0,0,2203	87	72	77		8640	0.2	1	17		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2880/2962	3912991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3912991G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8640C>T	17.37:g.3912991G>A							p.Y2880Y	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			53	8764	-			2880					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.8640C>T	CCDS11043.1																																																																																				0.612	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		47	173	0	0	0	1	0	47	173					A	3912991	G	A	3912991	2	1	79	1	0	0	0	0	0	0	0	1	18308	1140	40	1		1	ZZEF1	17	3912991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58092	3912991	77282219	16749	27066											
ZZEF1	23140	broad.mit.edu	37	chr17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagaagtaagtggatgGcttttaatcgttgatggcca	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2846							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGGATGGCTTTTAATCG	0.552																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8536-8538)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							78	67	71					17																	3916785		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3916785G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8537C>T	17.37:g.3916785G>A	ENSP00000371051:p.Ala2846Val						p.A2846V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			52	8661	-			2846					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8537C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.832956	0.97003	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.42498	-0.9448	10	0.87932	D	0	-15.2664	20.3214	0.98679	0.0:0.0:1.0:0.0	.	2846	O43149	ZZEF1_HUMAN	V	2846	ENSP00000371051:A2846V	ENSP00000371051:A2846V	A	-	2	0	ZZEF1	3863534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.804000	0.96469	0.655000	0.94253	GCC		0.552	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		66	253	0	0	0	1	0	66	253					A	3916785	G	A	3916785	3	1	79	1	0	0	0	0	1	0	0	0	18308	1203	42	2	364	2	ZZEF1	17	3916785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	3916785	77278425	16750	27067											
ZZEF1	23140	broad.mit.edu	37	chr17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatctttctgacaggtcaGaagttccaacaggaaaagta	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1620							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGACAGGTCAGAAGTTCCAAC	0.428																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4858-4860)Ctg>Atg		zinc finger, ZZ-type with EF-hand domain 1							43	42	42					17																	3966072		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3966072G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4858C>A	17.37:g.3966072G>T	ENSP00000371051:p.Leu1620Met						p.L1620M	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			30	4982	-			1620					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4858C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000074755	ENST00000381638	T	0.49139	0.79	5.66	3.68	0.42216	.	0.101413	0.48767	D	0.000168	T	0.63873	0.2548	M	0.64997	1.995	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65537	-0.6144	10	0.87932	D	0	-8.7289	11.9053	0.52708	0.1393:0.0:0.8607:0.0	.	1620;1620	O43149-2;O43149	.;ZZEF1_HUMAN	M	1620	ENSP00000371051:L1620M	ENSP00000371051:L1620M	L	-	1	2	ZZEF1	3912821	1.000000	0.71417	0.525000	0.27900	0.979000	0.70002	5.109000	0.64615	0.759000	0.33084	0.650000	0.86243	CTG		0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		19	72	1	0	1.40151e-16	1	1.54097e-16	19	72					T	3966072	G	T	3966072	3	4	79	1	0	0	0	0	1	0	0	0	18308	933	33	3	4131	3	ZZEF1	17	3966072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49287	3966072	77229138	16751	27068											
ZZEF1	23140	broad.mit.edu	37	chr17	3968016	3968016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgcttgttgagtggctggaGatgactggtttcatcagcag	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968016G>T	ENST00000381638.2	-	29	4481	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1453							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTGGCTGGAGATGACTGGTT	0.493																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4357-4359)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							70	65	67					17																	3968016		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3968016G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4357C>A	17.37:g.3968016G>T	ENSP00000371051:p.Leu1453Ile						p.L1453I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			29	4481	-			1453					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4357C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021966	0.35701	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.53	5.53	0.82687	.	0.607547	0.16222	N	0.223984	T	0.24236	0.0587	L	0.47716	1.5	0.43588	D	0.99593	B;P	0.42827	0.4;0.791	B;B	0.38378	0.11;0.272	T	0.03443	-1.1036	10	0.48119	T	0.1	-2.2679	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1453;1453	O43149-2;O43149	.;ZZEF1_HUMAN	I	1453	ENSP00000371051:L1453I	ENSP00000371051:L1453I	L	-	1	0	ZZEF1	3914765	0.998000	0.40836	0.836000	0.33094	0.146000	0.21551	5.445000	0.66594	2.607000	0.88179	0.591000	0.81541	CTC		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	543	1	0	2.17888e-05	1	2.22852e-05	10	543					T	3968016	G	T	3968016	3	4	79	1	0	0	0	0	1	0	0	0	18308	942	33	3	4636	3	ZZEF1	17	3968016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1944	3968016	77227194	16752	27069											
ZZEF1	23140	broad.mit.edu	37	chr17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaacttatgcccgtgGgcagaaattttagtaataga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1432							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TATGCCCGTGGGCAGAAATTT	0.393																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4294-4296)cCc>cTc		zinc finger, ZZ-type with EF-hand domain 1							53	59	57					17																	3968078		2199	4291	6490	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3968078G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4295C>T	17.37:g.3968078G>A	ENSP00000371051:p.Pro1432Leu						p.P1432L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			29	4419	-			1432					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4295C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384916	0.82792	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.53	5.53	0.82687	.	0.183743	0.47852	D	0.000205	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	D;P	0.57257	0.979;0.905	P;B	0.59643	0.861;0.403	T	0.44682	-0.9312	10	0.87932	D	0	-10.902	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1432;1432	O43149-2;O43149	.;ZZEF1_HUMAN	L	1432	ENSP00000371051:P1432L	ENSP00000371051:P1432L	P	-	2	0	ZZEF1	3914827	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	8.049000	0.89443	2.607000	0.88179	0.591000	0.81541	CCC		0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		118	488	0	0	0	1	0	118	488					A	3968078	G	A	3968078	3	1	79	1	0	0	0	0	1	0	0	0	18308	1232	43	2	4698	2	ZZEF1	17	3968078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	3968078	77227132	16753	27070											
ZZEF1	23140	broad.mit.edu	37	chr17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggcgcacagacttgagcGccatgcactgggaagccagg	14	12	0	2	rs183088585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGACTTGAGCGCCATGCACTG	0.597																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3667-3669)gCg>gTg		zinc finger, ZZ-type with EF-hand domain 1							107	105	106					17																	3977461		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3977461G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3668C>T	17.37:g.3977461G>A	ENSP00000371051:p.Ala1223Val						p.A1223V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			24	3792	-			1223					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3668C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378065	0.95945	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.87	5.87	0.94306	.	0.049827	0.85682	D	0.000000	T	0.43122	0.1233	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	P	0.53809	0.735	T	0.20405	-1.0276	10	0.66056	D	0.02	-9.3989	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1223	O43149	ZZEF1_HUMAN	V	1223	ENSP00000371051:A1223V	ENSP00000371051:A1223V	A	-	2	0	ZZEF1	3924210	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	7.516000	0.81772	2.780000	0.95670	0.655000	0.94253	GCG		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		147	620	0	0	0	1	0	147	620					A	3977461	G	A	3977461	3	1	79	1	0	0	0	0	1	0	0	0	18308	1087	38	1	5345	1	ZZEF1	17	3977461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9383	3977461	77217749	16754	27071											
ANKFY1	51479	broad.mit.edu	37	chr17	4085524	4085524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaatgcaagccacagCggggggttccccttctcatc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	ANKFY1_ENST00000573722.1_5'Flank|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	691	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2071-2073)ccG>ccA		ankyrin repeat and FYVE domain containing 1							118	119	119					17																	4085524		2012	4164	6176	SO:0001819	synonymous_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085524C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2073G>A	17.37:g.4085524C>T						CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P	p.P691P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			15	2108	-			691					A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37	c.2073G>A																																																																																					0.542	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		146	584	0	0	0	1	0	146	584					T	4085524	C	T	4085524	2	4	79	1	0	0	0	0	0	0	0	1	626	755	27	1		1	ANKFY1	17	4085524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108063	4085524	77109686	16755	27072											
SPNS2	124976	broad.mit.edu	37	chr17	4436305	4436305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctccctggccacgtcGgctgtctccttcgccacggg	10	18	2	0	rs199734993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(967-969)tcG>tcA		spinster homolog 2 (Drosophila)		G		1,3135		0,1,1567	41	42	41		969	-3.9	1	17		41	0,7162		0,0,3581	no	coding-synonymous	SPNS2	NM_001124758.1		0,1,5148	AA,AG,GG		0.0,0.0319,0.0097		323/550	4436305	1,10297	1568	3581	5149	SO:0001819	synonymous_variant	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436305G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.969G>A	17.37:g.4436305G>A							p.S323S	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			7	1179	+			323					B9A1T3	Silent	SNP	ENST00000329078.3	37	c.969G>A	CCDS42237.1																																																																																				0.667	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			63	292	0	0	0	1	0	63	292					A	4436305	G	A	4436305	2	1	79	1	0	0	0	0	0	0	0	1	15127	1103	39	1		1	SPNS2	17	4436305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350781	4436305	76758905	16756	27073											
SPNS2	124976	broad.mit.edu	37	chr17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccgctctacctgcaccGcgcccaagttgtgcagaaga	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	342					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1024-1026)cGc>cAc		spinster homolog 2 (Drosophila)							28	29	29					17																	4436361		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436361G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1025G>A	17.37:g.4436361G>A	ENSP00000333292:p.Arg342His						p.R342H	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			7	1235	+			342					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1025G>A	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662842	0.47572	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.46741	1.465	0.53005	D	0.999968	P	0.34662	0.462	B	0.33254	0.16	T	0.46512	-0.9186	10	0.18276	T	0.48	.	16.29	0.82742	0.0:0.0:1.0:0.0	.	342	Q8IVW8	SPNS2_HUMAN	H	342	ENSP00000333292:R342H	ENSP00000333292:R342H	R	+	2	0	SPNS2	4383110	1.000000	0.71417	0.986000	0.45419	0.164000	0.22412	7.614000	0.82996	2.189000	0.69895	0.313000	0.20887	CGC		0.701	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			29	149	0	0	0	1	0	29	149					A	4436361	G	A	4436361	3	1	79	1	0	0	0	0	1	0	0	0	15127	1087	38	1	1051	1	SPNS2	17	4436361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	4436361	76758849	16757	27074											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtgagggggctgttgCgcttggtcaggaaggagctc	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	989					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(2965-2967)cGc>cAc		MYB binding protein (P160) 1a							147	136	140					17																	4445963		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445963C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2966G>A	17.37:g.4445963C>T	ENSP00000254718:p.Arg989His					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H	p.R989H			Q9BQG0	MBB1A_HUMAN			21	3272	-			989					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.2966G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738408	0.89573	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68181	-0.31;-0.31	5.7	4.73	0.59995	Armadillo-type fold (1);	0.102039	0.64402	D	0.000003	T	0.78874	0.4352	M	0.71581	2.175	0.42954	D	0.994382	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80115	-0.1517	10	0.56958	D	0.05	-26.5309	10.5564	0.45121	0.0:0.9112:0.0:0.0888	.	989;989	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	989	ENSP00000370968:R989H;ENSP00000254718:R989H	ENSP00000254718:R989H	R	-	2	0	MYBBP1A	4392712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.033000	0.57282	1.420000	0.47138	0.655000	0.94253	CGC		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		92	459	0	0	0	1	0	92	459					T	4445963	C	T	4445963	3	4	79	1	0	0	0	0	1	0	0	0	10049	768	27	1	1084	1	MYBBP1A	17	4445963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9602	4445963	76749247	16758	27075											
MYBBP1A	10514	broad.mit.edu	37	chr17	4449013	4449013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggccaacagggccagCaagatctccaccagcacctc	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	655					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1963-1965)ttG>ttA		MYB binding protein (P160) 1a							27	28	28					17																	4449013		2198	4298	6496	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4449013C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1965G>A	17.37:g.4449013C>T						MYBBP1A_ENST00000381556.2_Silent_p.L655L	p.L655L			Q9BQG0	MBB1A_HUMAN			15	2271	-			655					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1965G>A	CCDS11046.1																																																																																				0.682	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		32	113	0	0	0	1	0	32	113					T	4449013	C	T	4449013	2	4	79	1	0	0	0	0	0	0	0	1	10049	709	25	2		2	MYBBP1A	17	4449013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3050	4449013	76746197	16759	27076											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcttcacagaggaggCggccatcttcagcacattca	9	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	255	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(763-765)Gcc>Acc		MYB binding protein (P160) 1a							79	73	75					17																	4455562		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455562C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.763G>A	17.37:g.4455562C>T	ENSP00000254718:p.Ala255Thr					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T	p.A255T			Q9BQG0	MBB1A_HUMAN			7	1069	-			255			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.763G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187487	0.57909	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67345	-0.26;-0.26	5.78	1.52	0.23074	Armadillo-type fold (1);	0.293259	0.37906	N	0.001897	T	0.67505	0.2900	M	0.64997	1.995	0.33679	D	0.611828	D;D	0.60160	0.987;0.984	P;P	0.55161	0.679;0.77	T	0.69698	-0.5075	10	0.30854	T	0.27	-9.8343	5.999	0.19509	0.2503:0.5632:0.1206:0.0659	.	255;255	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	255	ENSP00000370968:A255T;ENSP00000254718:A255T	ENSP00000254718:A255T	A	-	1	0	MYBBP1A	4402311	0.892000	0.30473	0.001000	0.08648	0.000000	0.00434	2.404000	0.44539	0.154000	0.19237	-0.829000	0.03081	GCC		0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		59	327	0	0	0	1	0	59	327					T	4455562	C	T	4455562	3	4	79	1	0	0	0	0	1	0	0	0	10049	768	27	1	3343	1	MYBBP1A	17	4455562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6549	4455562	76739648	16760	27077											
SMTNL2	342527	broad.mit.edu	37	chr17	4496307	4496307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtgagcctctccttgCggctgccccaccagccagtc	10	18	1	1	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	ENST00000389313.4	+	3	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTCCTTGCGGCTGCCCCA	0.622																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(571-573)Cgg>Tgg		smoothelin-like 2							60	61	60					17																	4496307		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496307C>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.571C>T	17.37:g.4496307C>T	ENSP00000373964:p.Arg191Trp					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	p.R191W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	3	638	+			191					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.571C>T	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886283	0.51908	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82619	-1.63;-1.63	5.36	3.33	0.38152	.	.	.	.	.	T	0.80539	0.4642	L	0.53249	1.67	0.27916	N	0.938427	D	0.62365	0.991	B	0.43623	0.425	T	0.73014	-0.4116	9	0.72032	D	0.01	-14.6887	12.6341	0.56673	0.0:0.6813:0.3187:0.0	.	191	Q2TAL5	SMTL2_HUMAN	W	47;191	ENSP00000345143:R47W;ENSP00000373964:R191W	ENSP00000345143:R47W	R	+	1	2	SMTNL2	4443056	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	1.130000	0.31393	0.747000	0.32809	0.650000	0.86243	CGG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		30	320	0	0	0	1	0	30	320					T	4496307	C	T	4496307	3	4	79	1	0	0	0	0	1	0	0	0	14866	759	27	1	581	1	SMTNL2	17	4496307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40745	4496307	76698903	16761	27078											
ARRB2	409	broad.mit.edu	37	chr17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaaagacctgttcatcGccacctaccaggccttcccc	6	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	83					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(247-249)Gcc>Acc		arrestin, beta 2							117	85	96					17																	4619793		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619793G>A		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.247G>A	17.37:g.4619793G>A	ENSP00000269260:p.Ala83Thr					ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000574954.1_5'UTR	p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	480	+			83					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.247G>A	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659378	0.47467	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.55	4.55	0.56014	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.188432	0.46145	D	0.000315	T	0.22704	0.0548	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B	0.33528	0.254;0.158;0.303;0.416;0.084	B;B;B;B;B	0.25405	0.06;0.008;0.019;0.033;0.013	T	0.04961	-1.0915	10	0.45353	T	0.12	-15.3958	9.9618	0.41701	0.0:0.0:0.7977:0.2023	.	83;68;83;68;83	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	T	83;83;68;84	ENSP00000269260:A83T;ENSP00000341895:A68T	ENSP00000269260:A83T	A	+	1	0	ARRB2	4566542	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.371000	0.80710	0.563000	0.77884	GCC		0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		79	297	0	0	0	1	0	79	297					A	4619793	G	A	4619793	3	1	79	1	0	0	0	0	1	0	0	0	982	1087	38	1	265	1	ARRB2	17	4619793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123486	4619793	76575417	16762	27079											
ARRB2	409	broad.mit.edu	37	chr17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaaacccggcccccagCcttcagccgaaaccacacgc	9	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(547-549)Cct>Tct		arrestin, beta 2							43	42	42					17																	4621244		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4621244C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.547C>T	17.37:g.4621244C>T	ENSP00000269260:p.Pro183Ser					ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000574954.1_5'UTR	p.P183S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			8	780	+			183					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.547C>T	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925126	0.92319	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20463	2.11;2.07	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.052944	0.85682	D	0.000000	T	0.45397	0.1340	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D	0.76494	0.987;0.985;0.999;0.998;0.974	P;P;D;P;P	0.63381	0.696;0.75;0.914;0.846;0.641	T	0.48714	-0.9011	10	0.72032	D	0.01	-9.2716	15.3396	0.74284	0.0:1.0:0.0:0.0	.	204;168;183;168;183	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	S	183;183;168;184	ENSP00000269260:P183S;ENSP00000341895:P168S	ENSP00000269260:P183S	P	+	1	0	ARRB2	4567993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	CCT		0.627	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		23	155	0	0	0	1	0	23	155					T	4621244	C	T	4621244	3	4	79	1	0	0	0	0	1	0	0	0	982	739	26	2	577	2	ARRB2	17	4621244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451	4621244	76573966	16763	27080											
CXCL16	400569	broad.mit.edu	37	chr17	4638392	4638392	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggtccagtttacctggaGaggactgcggtgactgcccc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4638392G>T	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Missense_Mutation_p.S257Y|CXCL16_ENST00000293778.6_Missense_Mutation_p.S257Y|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						TTTACCTGGAGAGGACTGCGG	0.607																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(769-771)tCt>tAt		chemokine (C-X-C motif) ligand 16							48	46	47					17																	4638392		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638392G>T	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638392G>T						CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Missense_Mutation_p.S257Y	p.S257Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	1192	-			238					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.770C>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735474	0.49045	.	.	ENSG00000161921	ENST00000293778	T	0.38077	1.16	5.27	-0.368	0.12537	.	1.442270	0.03990	N	0.294642	T	0.28167	0.0695	L	0.39898	1.24	0.09310	N	1	B	0.23249	0.082	B	0.24269	0.052	T	0.28713	-1.0035	10	0.62326	D	0.03	0.0403	1.5006	0.02476	0.2539:0.1429:0.4562:0.147	.	238	Q9H2A7	CXL16_HUMAN	Y	257	ENSP00000293778:S257Y	ENSP00000293778:S257Y	S	-	2	0	CXCL16	4585141	0.000000	0.05858	0.001000	0.08648	0.824000	0.46624	-0.298000	0.08265	-0.166000	0.10890	0.561000	0.74099	TCT		0.607	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		7	249	1	0	0.27861	1	0.278732	7	249					T	4638392	G	T	4638392	1	4	79	0	1	0	0	0	0	0	0	0	4094	942	33	3		3	CXCL16	17	4638392	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	4638392	76556818	16764	27081											
ZMYND15	84225	broad.mit.edu	37	chr17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagcgtggagctgtaGggactagccttgagggccgc	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	33					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGAGCTGTAGGGACTAGCCT	0.582																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(97-99)Ggg>Tgg		zinc finger, MYND-type containing 15							77	74	75					17																	4643940		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4643940G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.97G>T	17.37:g.4643940G>T	ENSP00000391742:p.Gly33Trp					ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W	p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			2	154	+			33					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.97G>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274691	0.40194	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.86;0.82	5.28	3.27	0.37495	.	0.238103	0.29900	N	0.010903	T	0.46171	0.1379	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60117	0.863;0.869	T	0.26883	-1.0090	10	0.87932	D	0	-9.0032	7.5421	0.27744	0.0882:0.1649:0.7469:0.0	.	33;33	B4DXY5;Q9H091	.;ZMY15_HUMAN	W	33	ENSP00000391742:G33W;ENSP00000269289:G33W	ENSP00000269289:G33W	G	+	1	0	ZMYND15	4590689	0.992000	0.36948	0.003000	0.11579	0.785000	0.44390	2.762000	0.47597	0.788000	0.33755	0.655000	0.94253	GGG		0.582	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		12	224	1	0	0.00136819	1	0.0013818	12	224					T	4643940	G	T	4643940	3	4	79	1	0	0	0	0	1	0	0	0	17761	1000	35	3	99	3	ZMYND15	17	4643940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5548	4643940	76551270	16765	27082											
VMO1	284013	broad.mit.edu	37	chr17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctaggacgttcccgcgcGcgcagtgcagcctgatccca	12	16	0	1	rs367858537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	87						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632																																						ENST00000328739.5																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(259-261)gCg>gTg		vitelline membrane outer layer 1 homolog (chicken)		G	VAL/ALA,VAL/ALA,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	691	626	648		260,260,,260	3.6	0	17		648	0,8600		0,0,4300	no	missense,missense,intron,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	64,64,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,,benign	87/115,87/103,,87/203	4689283	1,13005	2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689283G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.260C>T	17.37:g.4689283G>A	ENSP00000328397:p.Ala87Val					VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN			2	339	-			87					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.260C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000625	0.19121	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.61	0.41365	.	0.887861	0.09976	N	0.731644	T	0.28896	0.0717	L	0.29908	0.895	0.42351	D	0.992372	P;B;B	0.35807	0.522;0.019;0.142	B;B;B	0.30572	0.117;0.008;0.015	T	0.04029	-1.0983	10	0.34782	T	0.22	-5.9681	8.7249	0.34463	0.1042:0.0:0.8958:0.0	.	87;87;87	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	87	ENSP00000328397:A87V;ENSP00000390450:A87V;ENSP00000408166:A87V	ENSP00000328397:A87V	A	-	2	0	VMO1	4636023	0.001000	0.12720	0.010000	0.14722	0.009000	0.06853	0.885000	0.28227	1.161000	0.42604	-0.219000	0.12488	GCG		0.632	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		28	198	0	0	0	1	0	28	198					A	4689283	G	A	4689283	3	1	79	1	0	0	0	0	1	0	0	0	17231	1087	38	1	390	1	VMO1	17	4689283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45343	4689283	76505927	16766	27083											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	13	10	1	1	rs368249657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56	59	58					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		37	441	0	0	0	1	0	37	441					A	4712837	G	A	4712837	3	1	79	1	0	0	0	0	1	0	0	0	12088	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23554	4712837	76482373	16767	27084											
PLD2	5338	broad.mit.edu	37	chr17	4720350	4720350	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgctggaacttcaccaaGgtgttcattccctccgatag	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	567	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.e16+1		phospholipase D2	Choline(DB00122)						91	84	87					17																	4720350		2203	4300	6503	SO:0001630	splice_region_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4720350G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1701+1G>A	17.37:g.4720350G>A						PLD2_ENST00000572940.1_Splice_Site_p.K567_splice	p.K567_splice	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			16	1832	+			567			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Splice_Site	SNP	ENST00000263088.6	37	c.1701_splice	CCDS11057.1																																																																																				0.647	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Silent	130	507	0	0	0	1	0	130	507					A	4720350	G	A	4720350	5	1	79	1	0	0	0	0	0	0	1	0	12088	1014	35	2	1759	2	PLD2	17	4720350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7513	4720350	76474860	16768	27085											
PLD2	5338	broad.mit.edu	37	chr17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatagtgtgattcttggaGcaaatacccggccagacttg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	826					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2476-2478)Gca>Aca		phospholipase D2	Choline(DB00122)						114	112	112					17																	4725101		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4725101G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2476G>A	17.37:g.4725101G>A	ENSP00000263088:p.Ala826Thr					PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	p.A826T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			24	2607	+			826					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2476G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.073206	0.36566	.	.	ENSG00000129219	ENST00000263088	T	0.07021	3.23	4.84	4.84	0.62591	.	0.058029	0.64402	D	0.000002	T	0.12263	0.0298	M	0.70595	2.14	0.46874	D	0.999236	B;B	0.20550	0.046;0.017	B;B	0.22753	0.041;0.019	T	0.03463	-1.1034	10	0.27082	T	0.32	-14.3174	13.3112	0.60380	0.0:0.0:1.0:0.0	.	815;826	O14939-2;O14939	.;PLD2_HUMAN	T	826	ENSP00000263088:A826T	ENSP00000263088:A826T	A	+	1	0	PLD2	4672067	1.000000	0.71417	0.992000	0.48379	0.541000	0.35023	4.468000	0.60162	2.532000	0.85374	0.457000	0.33378	GCA		0.488	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		114	530	0	0	0	1	0	114	530					A	4725101	G	A	4725101	3	1	79	1	0	0	0	0	1	0	0	0	12088	971	34	2	2566	2	PLD2	17	4725101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4751	4725101	76470109	16769	27086											
MINK1	50488	broad.mit.edu	37	chr17	4796848	4796848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgacgaggaggaaggCgaaggcgggccagcagaggg	22	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000347992.7_Silent_p.G811G|MINK1_ENST00000453408.3_Silent_p.G820G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2518-2520)ggC>ggT		misshapen-like kinase 1							46	57	54					17																	4796848		1975	4138	6113	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4796848C>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2520C>T	17.37:g.4796848C>T						MINK1_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	p.G840G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			21	2716	+			840						Silent	SNP	ENST00000355280.6	37	c.2520C>T	CCDS45588.1																																																																																				0.672	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		47	172	0	0	0	1	0	47	172					T	4796848	C	T	4796848	2	4	79	1	0	0	0	0	0	0	0	1	9628	755	27	1		1	MINK1	17	4796848	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71747	4796848	76398362	16770	27087											
MINK1	1145	broad.mit.edu	37	chr17	4798398	4798398	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggagagggcactcggctCgaccagctgcagtacgacgt	16	11	0	1	rs370114801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4798398C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Silent_p.L953L|MINK1_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000355280.6_Silent_p.L982L	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCACTCGGCTCGACCAGCTGC	0.602																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2944-2946)ctC>ctT		misshapen-like kinase 1							404	373	383					17																	4798398		2034	4178	6212	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798398C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798398C>T						MINK1_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000347992.7_Silent_p.L953L	p.L982L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3142	+			982			Mediates interaction with RAP2A.		D3DTK6	Silent	SNP	ENST00000293780.4	37	c.2946C>T	CCDS11058.1																																																																																				0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			36	176	0	0	0	1	0	36	176					T	4798398	C	T	4798398	1	4	79	0	1	0	0	0	0	0	0	0	9628	871	31	1		1	MINK1	17	4798398	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1550	4798398	76396812	16771	27088											
CHRNE	1145	broad.mit.edu	37	chr17	4804099	4804099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcacctgcccaggagCggcacgctcagagaagtctc	12	15	3	1	rs374156332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGCCCAGGAGCGGCACGCTCA	0.632																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(904-906)ccG>ccA		cholinergic receptor, nicotinic, epsilon (muscle)		C	,	1,4405		0,1,2202	41	42	41		906,	-3.9	1	17		41	0,8600		0,0,4300	no	coding-synonymous,utr-3	CHRNE,C17orf107	NM_000080.3,NM_001145536.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	302/494,	4804099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804099C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.906G>A	17.37:g.4804099C>T						C17orf107_ENST00000381365.3_3'UTR	p.P302P	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			8	916	-			302					D3DTK6	Silent	SNP	ENST00000293780.4	37	c.906G>A	CCDS11058.1																																																																																				0.632	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			30	128	0	0	0	1	0	30	128					T	4804099	C	T	4804099	2	4	79	1	0	0	0	0	0	0	0	1	3404	755	27	1		1	CHRNE	17	4804099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5701	4804099	76391111	16772	27089											
SLC25A11	8402	broad.mit.edu	37	chr17	4841116	4841116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacggtgtgggggcccaGgcgggcatagtacggcgtga	21	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.L238L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	289					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(865-867)Ctg>Ttg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							74	82	79					17																	4841116		2203	4300	6503	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841116G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.865C>T	17.37:g.4841116G>A						SLC25A11_ENST00000544061.2_Silent_p.L238L	p.L289L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			8	1205	-			289					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.865C>T	CCDS11059.1																																																																																				0.607	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		104	438	0	0	0	1	0	104	438					A	4841116	G	A	4841116	2	1	79	1	0	0	0	0	0	0	0	1	14523	991	35	2		2	SLC25A11	17	4841116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37017	4841116	76354094	16773	27090											
SLC25A11	8402	broad.mit.edu	37	chr17	4841499	4841499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagtggtgacaagaccGctgatcatgctggcacagaa	13	10	1	4	rs200653286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841499G>A	ENST00000225665.7	-	6	1027	c.687C>T	c.(685-687)agC>agT	p.S229S	RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.S178S|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	229					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGACAAGACCGCTGATCATGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18484	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(685-687)agC>agT		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							50	48	49					17																	4841499		2202	4300	6502	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841499G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.687C>T	17.37:g.4841499G>A						SLC25A11_ENST00000544061.2_Silent_p.S178S	p.S229S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			6	1027	-			229					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.687C>T	CCDS11059.1																																																																																				0.622	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		6	231	0	0	0	1	0	6	231					A	4841499	G	A	4841499	2	1	79	1	0	0	0	0	0	0	0	1	14523	1078	38	1		1	SLC25A11	17	4841499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	4841499	76353711	16774	27091											
CAMTA2	23125	broad.mit.edu	37	chr17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcggctctgctgaaatcGcttctgttcatagtagcttc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000348066.3	-	21	3481	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1120	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTGAAATCGCTTCTGTTCA	0.627																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(3355-3357)Cga>Tga		calmodulin binding transcription activator 2							54	62	60					17																	4872557		2203	4299	6502	SO:0001587	stop_gained	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4872557G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3358C>T	17.37:g.4872557G>A	ENSP00000321813:p.Arg1120*					CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.R1120*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*	p.R1119*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			20	3766	-			1120			IQ 2.		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	37	c.3355C>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	41	8.559694	0.98863	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.21	3.23	0.37069	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6456	11.2237	0.48871	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1143;1115;1119;1113;1120	.	ENSP00000321813:R1120X	R	-	1	2	CAMTA2	4813281	0.037000	0.19845	0.997000	0.53966	0.994000	0.84299	0.178000	0.16820	0.969000	0.38237	0.563000	0.77884	CGA		0.627	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		17	575	0	0	0	1	0	17	575					A	4872557	G	A	4872557	4	1	79	1	0	0	0	0	0	1	0	0	2621	1095	38	1	312	1	CAMTA2	17	4872557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31058	4872557	76322653	16775	27092											
CAMTA2	23125	broad.mit.edu	37	chr17	4876933	4876933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctgggcagcagccagGtgcagaaggctcatgccccg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000348066.3	-	13	2271	c.2148C>T	c.(2146-2148)caC>caT	p.H716H	CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000381311.5_Silent_p.H718H|CAMTA2_ENST00000358183.4_Silent_p.H716H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Silent_p.H715H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	716					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2143-2145)caC>caT		calmodulin binding transcription activator 2							41	43	42					17																	4876933		2203	4300	6503	SO:0001819	synonymous_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4876933G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2148C>T	17.37:g.4876933G>A						CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000358183.4_Silent_p.H716H|CAMTA2_ENST00000348066.3_Silent_p.H716H|CAMTA2_ENST00000572543.1_Silent_p.H721H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Silent_p.H718H	p.H715H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			12	2556	-			716					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	c.2145C>T	CCDS11063.1																																																																																				0.642	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		36	163	0	0	0	1	0	36	163					A	4876933	G	A	4876933	2	1	79	1	0	0	0	0	0	0	0	1	2621	1252	44	2		2	CAMTA2	17	4876933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4376	4876933	76318277	16776	27093											
CAMTA2	23125	broad.mit.edu	37	chr17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacccgtgcttcgaacccaGgcccctggccttcatcctgc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000348066.3	-	13	2156	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	678					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2029-2031)cCt>cAt		calmodulin binding transcription activator 2							72	65	67					17																	4877048		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4877048G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2033C>A	17.37:g.4877048G>T	ENSP00000321813:p.Pro678His					CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P678H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H	p.P677H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			12	2441	-			678					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.2030C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564895	0.65651	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32515	2.67;1.69;1.45;1.69;1.46	4.85	4.85	0.62838	.	0.073877	0.56097	D	0.000029	T	0.30634	0.0771	N	0.12182	0.205	0.41702	D	0.989407	B;B;D;D;D	0.61697	0.016;0.029;0.99;0.983;0.986	B;B;P;P;P	0.57620	0.011;0.017;0.824;0.671;0.76	T	0.09357	-1.0678	10	0.44086	T	0.13	-14.7948	13.3308	0.60485	0.0:0.0:1.0:0.0	.	654;701;680;678;677	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	701;680;677;678;678	ENSP00000412886:P701H;ENSP00000370712:P680H;ENSP00000354828:P677H;ENSP00000350910:P678H;ENSP00000321813:P678H	ENSP00000321813:P678H	P	-	2	0	CAMTA2	4817772	0.998000	0.40836	0.440000	0.26846	0.951000	0.60555	1.941000	0.40233	2.528000	0.85240	0.655000	0.94253	CCT		0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		62	230	1	0	1.22587e-43	1	1.49745e-43	62	230					T	4877048	G	T	4877048	3	4	79	1	0	0	0	0	1	0	0	0	2621	1000	35	3	1669	3	CAMTA2	17	4877048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	4877048	76318162	16777	27094											
CAMTA2	23125	broad.mit.edu	37	chr17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcggggctccactttgggaGagatgatgcggtgtttcgtg	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000348066.3	-	9	875	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	251					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(748-750)tCt>tAt		calmodulin binding transcription activator 2							101	110	107					17																	4883865		2084	4217	6301	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883865G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.752C>A	17.37:g.4883865G>T	ENSP00000321813:p.Ser251Tyr		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S251Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y	p.S250Y	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			8	1160	-			251					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.749C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171901	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.44083	2.19;1.24;0.93;1.24;1.01	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	T	0.50565	0.1623	N	0.24115	0.695	0.46927	D	0.999255	D;D;D;D	0.76494	0.999;0.999;0.996;0.997	D;D;D;D	0.91635	0.997;0.999;0.982;0.997	T	0.56165	-0.8024	10	0.87932	D	0	-16.0601	14.9845	0.71336	0.0:0.0:1.0:0.0	.	274;253;251;250	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Y	274;253;250;251;251	ENSP00000412886:S274Y;ENSP00000370712:S253Y;ENSP00000354828:S250Y;ENSP00000350910:S251Y;ENSP00000321813:S251Y	ENSP00000321813:S251Y	S	-	2	0	CAMTA2	4824589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.388000	0.81334	0.650000	0.86243	TCT		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		89	448	1	0	5.48297e-45	1	6.7172e-45	89	448					T	4883865	G	T	4883865	3	4	79	1	0	0	0	0	1	0	0	0	2621	942	33	3	2966	3	CAMTA2	17	4883865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	4883865	76311345	16778	27095											
INCA1	388324	broad.mit.edu	37	chr17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagacatctccataaCgctggggcatgggtctgagg	13	10	2	3	rs200914054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000574617.1	-	4	471	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CAMTA2_ENST00000572543.1_5'Flank|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H|CAMTA2_ENST00000381311.5_5'Flank|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|RP5-1050D4.5_ENST00000574260.1_RNA|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000358183.4_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|CAMTA2_ENST00000348066.3_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	39					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.001	False		,,,				2504	0.0					ENST00000396829.2																			0				upper_aerodigestive_tract(1)	1						c.(115-117)cGt>cAt		inhibitor of CDK, cyclin A1 interacting protein 1							96	80	86					17																	4893489		2203	4300	6503	SO:0001583	missense	388324					nucleus		g.chr17:4893489C>T	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.116G>A	17.37:g.4893489C>T	ENSP00000458316:p.Arg39His					INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|INCA1_ENST00000574617.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H	p.R39H	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN			5	682	-			39					Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	37	c.116G>A	CCDS54074.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	16.04	3.010900	0.54361	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.37	-1.72	0.08107	.	0.578202	0.15947	N	0.236916	T	0.14874	0.0359	N	0.11560	0.145	0.23138	N	0.998238	B;B	0.15141	0.005;0.012	B;B	0.10450	0.003;0.005	T	0.13335	-1.0513	9	0.33141	T	0.24	-0.2663	4.4816	0.11769	0.0:0.3416:0.1808:0.4776	.	39;39	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	H	39	.	ENSP00000347129:R39H	R	-	2	0	INCA1	4834213	0.000000	0.05858	0.802000	0.32245	0.882000	0.50991	-1.769000	0.01792	-0.232000	0.09811	-0.147000	0.13772	CGT		0.527	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	NM_213726		54	224	0	0	0	1	0	54	224					T	4893489	C	T	4893489	3	4	79	1	0	0	0	0	1	0	0	0	7762	536	19	1	614	1	INCA1	17	4893489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	4893489	76301721	16779	27096											
KIF1C	10749	broad.mit.edu	37	chr17	4905925	4905925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgacctcatggactgtgGaaataaagcacggtgaggca	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	ENST00000320785.5	+	7	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATGGACTGTGGAAATAAAGCA	0.592																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(595-597)gGa>gAa		kinesin family member 1C							111	102	105					17																	4905925		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905925G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.596G>A	17.37:g.4905925G>A	ENSP00000320821:p.Gly199Glu						p.G199E	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			7	953	+			199			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.596G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048994	0.93740	.	.	ENSG00000129250	ENST00000320785	D	0.83837	-1.77	5.43	5.43	0.79202	Kinesin, motor domain (4);	.	.	.	.	D	0.95114	0.8417	H	0.99117	4.435	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.96978	0.9713	9	0.87932	D	0	.	17.1003	0.86647	0.0:0.0:1.0:0.0	.	199	O43896	KIF1C_HUMAN	E	199	ENSP00000320821:G199E	ENSP00000320821:G199E	G	+	2	0	KIF1C	4846649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.890000	0.87313	2.727000	0.93392	0.561000	0.74099	GGA		0.592	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			60	618	0	0	0	1	0	60	618					A	4905925	G	A	4905925	3	1	79	1	0	0	0	0	1	0	0	0	8315	1174	41	2	614	2	KIF1C	17	4905925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12436	4905925	76289285	16780	27097											
GPR172B	55065	broad.mit.edu	37	chr17	4936291	4936291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagtcctttctgctttgAaacacgtggtagatgctggt	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936291A>G	ENST00000424747.1	-	5	2020	c.1308T>C	c.(1306-1308)ttT>ttC	p.F436F	SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Silent_p.F436F	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	436					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										TTCTGCTTTGAAACACGTGGT	0.632																																						ENST00000424747.1																			0											c.(1306-1308)ttT>ttC		solute carrier family 52 (riboflavin transporter), member 1							73	75	74					17																	4936291		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936291A>G	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1308T>C	17.37:g.4936291A>G						SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Silent_p.F436F	p.F436F	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			5	2020	-			436					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.1308T>C	CCDS11066.1																																																																																				0.632	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		57	202	0	0	0	1	0	57	202					G	4936291	A	G	4936291	2	3	79	1	0	0	0	0	0	0	0	1	6699	243	9	4		4	GPR172B	17	4936291	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30366	4936291	76258919	16781	27098											
GPR172B	55065	broad.mit.edu	37	chr17	4936666	4936666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagagaaagaccaaccaGccctgccagggacctgttgg	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936666G>T	ENST00000424747.1	-	4	1736	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	SLC52A1_ENST00000512825.2_Intron|SLC52A1_ENST00000254853.5_Missense_Mutation_p.L342M	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	342					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										AGACCAACCAGCCCTGCCAGG	0.632																																						ENST00000424747.1																			0											c.(1024-1026)Ctg>Atg		solute carrier family 52 (riboflavin transporter), member 1							77	92	87					17																	4936666		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936666G>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1024C>A	17.37:g.4936666G>T	ENSP00000399979:p.Leu342Met					SLC52A1_ENST00000512825.2_Intron|SLC52A1_ENST00000254853.5_Missense_Mutation_p.L342M	p.L342M	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			4	1736	-			342					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.1024C>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967437	0.53507	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.75477	-0.94;-0.94	0.913	0.913	0.19354	.	0.166040	0.40222	N	0.001143	T	0.77631	0.4159	L	0.55990	1.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.73263	-0.4038	10	0.39692	T	0.17	.	5.1534	0.15021	0.0:0.0:1.0:0.0	.	342	Q9NWF4	RFT_HUMAN	M	342	ENSP00000254853:L342M;ENSP00000399979:L342M	ENSP00000254853:L342M	L	-	1	2	GPR172B	4877390	0.447000	0.25673	0.743000	0.31040	0.584000	0.36387	0.394000	0.20834	0.784000	0.33661	0.655000	0.94253	CTG		0.632	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		90	424	1	0	4.65891e-64	1	5.88457e-64	90	424					T	4936666	G	T	4936666	3	4	79	1	0	0	0	0	1	0	0	0	6699	962	34	3	330	3	GPR172B	17	4936666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375	4936666	76258544	16782	27099											
GPR172B	55065	broad.mit.edu	37	chr17	4937215	4937215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtgctggcaggaaaaCgctcagggaagtcgagggga	18	6	1	1	rs545814197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4937215C>T	ENST00000424747.1	-	3	1281	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SLC52A1_ENST00000512825.2_Missense_Mutation_p.R190H|SLC52A1_ENST00000254853.5_Missense_Mutation_p.R190H	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	190					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGCAGGAAAACGCTCAGGGAA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.001	False		,,,				2504	0.0					ENST00000512825.2																			0											c.(568-570)cGt>cAt		solute carrier family 52 (riboflavin transporter), member 1							74	77	76					17																	4937215		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937215C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.569G>A	17.37:g.4937215C>T	ENSP00000399979:p.Arg190His					SLC52A1_ENST00000424747.1_Missense_Mutation_p.R190H|SLC52A1_ENST00000254853.5_Missense_Mutation_p.R190H	p.R190H			Q9NWF4	RFT_HUMAN			3	1980	-			190					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.569G>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380302	0.42207	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76186	-1.0;-0.86;-1.0	1.13	0.1	0.14510	.	0.175899	0.47455	N	0.000228	T	0.58424	0.2121	L	0.43554	1.36	0.35362	D	0.788283	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.48790	-0.9004	10	0.37606	T	0.19	.	3.9044	0.09176	0.0:0.5347:0.0:0.4653	.	190;190	F5H5Y1;Q9NWF4	.;RFT_HUMAN	H	190	ENSP00000254853:R190H;ENSP00000443026:R190H;ENSP00000399979:R190H	ENSP00000254853:R190H	R	-	2	0	GPR172B	4877939	0.955000	0.32602	0.980000	0.43619	0.935000	0.57460	0.071000	0.14594	0.063000	0.16370	-0.254000	0.11334	CGT		0.637	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		91	559	0	0	0	1	0	91	559					T	4937215	C	T	4937215	3	4	79	1	0	0	0	0	1	0	0	0	6699	536	19	1	789	1	GPR172B	17	4937215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	549	4937215	76257995	16783	27100											
ZFP3	124961	broad.mit.edu	37	chr17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggacctctcaccttattGtccaccagagaattcatact	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	410					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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1228-1230)Gtc>Atc		ZFP3 zinc finger protein							70	67	68					17																	4996027		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996027G>A	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1228G>A	17.37:g.4996027G>A	ENSP00000320347:p.Val410Ile						p.V410I	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1564	+			410					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1228G>A	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293593	0.23564	.	.	ENSG00000180787	ENST00000318833	T	0.17854	2.25	3.96	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005159	T	0.15825	0.0381	N	0.05608	-0.01	0.09310	N	1	P	0.49862	0.929	D	0.63703	0.917	T	0.05599	-1.0875	10	0.33940	T	0.23	-9.5861	6.2776	0.20989	0.2192:0.0:0.7808:0.0	.	410	Q96NJ6	ZFP3_HUMAN	I	410	ENSP00000320347:V410I	ENSP00000320347:V410I	V	+	1	0	ZFP3	4936751	0.000000	0.05858	0.731000	0.30826	0.979000	0.70002	0.231000	0.17872	1.265000	0.44215	0.655000	0.94253	GTC		0.433	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		23	354	0	0	0	1	0	23	354					A	4996027	G	A	4996027	3	1	79	1	0	0	0	0	1	0	0	0	17696	1377	48	2	1230	2	ZFP3	17	4996027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58812	4996027	76199183	16784	27101											
USP6	9098	broad.mit.edu	37	chr17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctgcgcctgtgggacGtgtatttggtggaaggagaa	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	287	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGTGGGACGTGTATTTGGT	0.587			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(859-861)Gtg>Atg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							229	214	219					17																	5040979		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5040979G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.859G>A	17.37:g.5040979G>A	ENSP00000460380:p.Val287Met					USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M	p.V287M			P35125	UBP6_HUMAN			20	3089	+			287			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.859G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598163	0.46318	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.43294	0.95;0.95	.	.	.	Rab-GAP/TBC domain (4);	1.338740	0.04428	N	0.368799	T	0.42585	0.1209	L	0.46670	1.46	0.80722	D	1	D	0.63046	0.992	P	0.46275	0.51	T	0.47497	-0.9113	8	0.87932	D	0	.	.	.	.	.	287	P35125	UBP6_HUMAN	M	287	ENSP00000328010:V287M;ENSP00000250066:V287M	ENSP00000250066:V287M	V	+	1	0	USP6	4981703	1.000000	0.71417	0.269000	0.24586	0.272000	0.26649	1.918000	0.40006	0.119000	0.18210	0.121000	0.15741	GTG		0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		170	877	0	0	0	1	0	170	877					A	5040979	G	A	5040979	3	1	79	1	0	0	0	0	1	0	0	0	17140	1145	40	1	901	1	USP6	17	5040979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44952	5040979	76154231	16785	27102											
USP6	9098	broad.mit.edu	37	chr17	5042848	5042848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgccccggctcccaacGgacctggatatagggggccc	12	15	1	0	rs61761605	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	459					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCTCCCAACGGACCTGGATA	0.622			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G|||	9	0.00179712	0.0	0.0	5008	,	,		18153	0.0069		0.0	False		,,,				2504	0.002					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1375-1377)acG>acA		ubiquitin specific peptidase 6 (Tre-2 oncogene)							48	56	53					17																	5042848		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042848G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1377G>A	17.37:g.5042848G>A						USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T	p.T459T			P35125	UBP6_HUMAN			22	3607	+			459					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1377G>A	CCDS11069.2																																																																																				0.622	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		59	319	0	0	0	1	0	59	319					A	5042848	G	A	5042848	2	1	79	1	0	0	0	0	0	0	0	1	17140	1103	39	1		1	USP6	17	5042848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	5042848	76152362	16786	27103											
USP6	9098	broad.mit.edu	37	chr17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattatgattttgaatggaGctgctgggtccgtgccatat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	476					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGAATGGAGCTGCTGGGTC	0.592			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1426-1428)aGc>aAc		ubiquitin specific peptidase 6 (Tre-2 oncogene)							47	52	51					17																	5042898		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042898G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1427G>A	17.37:g.5042898G>A	ENSP00000460380:p.Ser476Asn					USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N	p.S476N			P35125	UBP6_HUMAN			22	3657	+			476					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1427G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.17213	2.44;2.91;2.29	0.266	0.266	0.15617	.	0.110616	0.64402	D	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B	0.33000	0.393;0.273	B;B	0.42319	0.383;0.213	T	0.18840	-1.0324	9	0.54805	T	0.06	.	.	.	.	.	159;476	P35125-2;P35125	.;UBP6_HUMAN	N	476;476;159	ENSP00000328010:S476N;ENSP00000250066:S476N;ENSP00000305473:S159N	ENSP00000250066:S476N	S	+	2	0	USP6	4983622	0.463000	0.25799	0.029000	0.17559	0.028000	0.11728	1.033000	0.30191	0.390000	0.25115	0.391000	0.25812	AGC		0.592	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		70	284	0	0	0	1	0	70	284					A	5042898	G	A	5042898	3	1	79	1	0	0	0	0	1	0	0	0	17140	971	34	2	1477	2	USP6	17	5042898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	5042898	76152312	16787	27104											
RABEP1	9135	broad.mit.edu	37	chr17	5268464	5268464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagctaatgaccagttagaGaagacaatgaaagataagca	9	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000546142.2	+	11	1903	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	RABEP1_ENST00000262477.6_Silent_p.E572E|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.E529E|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	572					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1714-1716)gaG>gaA		rabaptin, RAB GTPase binding effector protein 1							119	111	114					17																	5268464		1870	4110	5980	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5268464G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1716G>A	17.37:g.5268464G>A						RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000546142.2_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E|NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA	p.E572E	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			11	1940	+			572					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1716G>A	CCDS45592.1																																																																																				0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		83	355	0	0	0	1	0	83	355					A	5268464	G	A	5268464	2	1	79	1	0	0	0	0	0	0	0	1	13011	933	33	2		2	RABEP1	17	5268464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225566	5268464	75926746	16788	27105											
RABEP1	9135	broad.mit.edu	37	chr17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgaatccaggcactgCgggagttggtattaaaatac	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000546142.2	+	14	2219	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	678					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2032-2034)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 1							139	134	135					17																	5280417		1868	4097	5965	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5280417C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2032C>T	17.37:g.5280417C>T	ENSP00000437701:p.Arg678Trp					RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000546142.2_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|NUP88_ENST00000573169.1_Intron	p.R678W	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			14	2256	+			678					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.2032C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848670	0.91277	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.99	4.99	0.66335	Rabaptin, GTPase-Rab5 binding (1);	0.191631	0.48767	D	0.000179	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;P;P;P;P	0.57679	0.627;0.744;0.825;0.744;0.627	T	0.58719	-0.7587	10	0.87932	D	0	-12.9011	17.8295	0.88677	0.0:1.0:0.0:0.0	.	635;635;671;678;678	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	W	678;678;671;678;678;635	ENSP00000262477:R678W;ENSP00000386150:R678W;ENSP00000437701:R678W;ENSP00000339569:R678W;ENSP00000445408:R635W	ENSP00000262477:R678W	R	+	1	2	RABEP1	5221141	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.308000	0.78929	2.760000	0.94817	0.655000	0.94253	CGG		0.393	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		156	630	0	0	0	1	0	156	630					T	5280417	C	T	5280417	3	4	79	1	0	0	0	0	1	0	0	0	13011	759	27	1	2086	1	RABEP1	17	5280417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11953	5280417	75914793	16789	27106											
RABEP1	9135	broad.mit.edu	37	chr17	5284791	5284791	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattttgtaaagctttcacaGacccttcaggtgaggcattt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000546142.2	+	17	2665	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_ENST00000262477.6_Silent_p.Q826Q|RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.Q783Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	826					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2476-2478)caG>caA		rabaptin, RAB GTPase binding effector protein 1							86	87	87					17																	5284791		1897	4123	6020	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5284791G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2478G>A	17.37:g.5284791G>A						RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000546142.2_Silent_p.Q826Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q|NUP88_ENST00000573169.1_Intron	p.Q826Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			17	2702	+			826					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.2478G>A	CCDS45592.1																																																																																				0.458	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		46	236	0	0	0	1	0	46	236					A	5284791	G	A	5284791	2	1	79	1	0	0	0	0	0	0	0	1	13011	933	33	2		2	RABEP1	17	5284791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4374	5284791	75910419	16790	27107											
NUP88	4927	broad.mit.edu	37	chr17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtaaactcacctgatccaaGaaatttgtgaagtttatgaa	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343																																						ENST00000573584.1																			1	Substitution - Missense(1)	p.L428I(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(1282-1284)Ctt>Att		nucleoporin 88kDa							74	70	71					17																	5302881		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5302881G>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1282C>A	17.37:g.5302881G>T	ENSP00000458954:p.Leu428Ile						p.L428I	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			8	1791	-			428					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.1282C>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT		0.343	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		43	158	1	0	2.47872e-24	1	2.8326e-24	43	158					T	5302881	G	T	5302881	3	4	79	1	0	0	0	0	1	0	0	0	10813	942	33	3	983	3	NUP88	17	5302881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18090	5302881	75892329	16791	27108											
C1QBP	708	broad.mit.edu	37	chr17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgagtgtataattagTatccttccattcagactcgc	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000225698.4	-	5	745	c.664A>G	c.(664-666)Act>Gct	p.T222A	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	222					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	GTATAATTAGTATCCTTCCAT	0.478																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(664-666)Act>Gct		complement component 1, q subcomponent binding protein							104	101	102					17																	5336648		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5336648T>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.664A>G	17.37:g.5336648T>C	ENSP00000225698:p.Thr222Ala					C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	p.T222A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN			5	745	-			222					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.664A>G	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.047581	0.85682	D	0.000000	T	0.60483	0.2272	L	0.59436	1.845	0.53688	D	0.999971	B	0.29232	0.238	B	0.31245	0.126	T	0.62732	-0.6792	9	0.54805	T	0.06	-8.1776	14.2178	0.65805	0.0:0.0:0.0:1.0	.	222	Q07021	C1QBP_HUMAN	A	222	.	ENSP00000225698:T222A	T	-	1	0	C1QBP	5277372	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.741000	0.84997	2.144000	0.66660	0.533000	0.62120	ACT		0.478	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		103	428	0	0	0	1	0	103	428					C	5336648	T	C	5336648	3	2	79	1	0	0	0	0	1	0	0	0	1963	1638	57	4	192	4	C1QBP	17	5336648	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33767	5336648	75858562	16792	27109											
NLRP1	22861	broad.mit.edu	37	chr17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggacggagaagagaAtctgccaataggcatctgtg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000572272.1	-	5	2395	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	799					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2395-2397)aTt>aGt		NLR family, pyrin domain containing 1							85	77	79					17																	5456838		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5456838A>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2396T>G	17.37:g.5456838A>C	ENSP00000460475:p.Ile799Ser					NLRP1_ENST00000572272.1_Missense_Mutation_p.I799S|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S	p.I799S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			5	2950	-		Colorectal(1115;3.48e-05)	799					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2396T>G	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	6.944	0.543931	0.13312	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	-0.917	0.10485	.	2.379340	0.02045	N	0.049571	T	0.40473	0.1118	L	0.52573	1.65	0.09310	N	0.999994	P;P;P;B;B;B	0.46457	0.58;0.878;0.878;0.044;0.059;0.073	B;B;B;B;B;B	0.44108	0.373;0.441;0.441;0.029;0.03;0.046	T	0.21895	-1.0232	10	0.22109	T	0.4	.	0.8203	0.01110	0.3889:0.1741:0.1:0.3371	.	65;799;799;799;799;799	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	S	799;799;799;799;799;65	ENSP00000442029:I799S;ENSP00000262467:I799S;ENSP00000269280:I799S;ENSP00000346390:I799S;ENSP00000324366:I799S	ENSP00000262467:I799S	I	-	2	0	NLRP1	5397562	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	0.215000	0.17562	0.008000	0.14787	0.533000	0.62120	ATT		0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		42	233	0	0	0	1	0	42	233					C	5456838	A	C	5456838	3	2	79	1	0	0	0	0	1	0	0	0	10513	101	4	4	2152	4	NLRP1	17	5456838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120190	5456838	75738372	16793	27110											
WSCD1	23302	broad.mit.edu	37	chr17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcacctacattggatgCttcagtgacgatggccacga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	148	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(442-444)tgC>tgA		WSC domain containing 1							143	122	129					17																	5991326		2203	4300	6503	SO:0001587	stop_gained	23302					integral to membrane	sulfotransferase activity	g.chr17:5991326C>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.444C>A	17.37:g.5991326C>A	ENSP00000460825:p.Cys148*					WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*	p.C148*			Q658N2	WSCD1_HUMAN			3	834	+			148			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Nonsense_Mutation	SNP	ENST00000574946.1	37	c.444C>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311578	0.95655	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	5.97	0.48	0.16804	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1992	5.589	0.17291	0.0:0.5469:0.1346:0.3186	.	.	.	.	X	148	.	ENSP00000323087:C148X	C	+	3	2	WSCD1	5932050	0.993000	0.37304	0.990000	0.47175	0.070000	0.16714	0.321000	0.19558	0.098000	0.17522	-0.140000	0.14226	TGC		0.537	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		18	396	1	0	8.34094e-07	1	8.61956e-07	18	396					A	5991326	C	A	5991326	4	1	79	1	0	0	0	0	0	1	0	0	17460	805	28	3	450	3	WSCD1	17	5991326	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534488	5991326	75203884	16794	27111											
AIPL1	23746	broad.mit.edu	37	chr17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcggccacctcgtgcaCccgcatggaggtaagcagga	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	81	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(241-243)Gtg>Atg		aryl hydrocarbon receptor interacting protein-like 1							126	90	102					17																	6337274		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6337274C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.241G>A	17.37:g.6337274C>T	ENSP00000370521:p.Val81Met					AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M	p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	321	-			81			PPIase FKBP-type.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.241G>A	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735304	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.87887	-2.31;-2.31	5.05	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.341267	0.28821	N	0.014031	D	0.82697	0.5093	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.50369	0.934;0.823;0.627;0.933;0.91	P;P;B;P;P	0.53593	0.73;0.458;0.255;0.668;0.583	T	0.74910	-0.3503	10	0.46703	T	0.11	-8.5843	5.4559	0.16590	0.0902:0.1015:0.5139:0.2944	.	81;59;81;81;81	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	81	ENSP00000370521:V81M;ENSP00000250087:V81M	ENSP00000250087:V81M	V	-	1	0	AIPL1	6277998	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.414000	0.07114	-1.781000	0.01277	-0.219000	0.12488	GTG		0.592	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		21	134	0	0	0	1	0	21	134					T	6337274	C	T	6337274	3	4	79	1	0	0	0	0	1	0	0	0	436	507	18	2	933	2	AIPL1	17	6337274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345948	6337274	74857936	16795	27112											
FAM64A	54478	broad.mit.edu	37	chr17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtgctttgggtgccgtgTcccaggtaatactgacaaca	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000250056.8	+	2	372	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	97					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(289-291)Tcc>Ccc		family with sequence similarity 64, member A							52	58	56					17																	6348719		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348719T>C		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.289T>C	17.37:g.6348719T>C	ENSP00000250056:p.Ser97Pro					FAM64A_ENST00000250056.8_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	p.S97P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	398	+			97					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.289T>C	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552859	0.45487	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	4.75	3.6	0.41247	.	0.080661	0.51477	D	0.000096	T	0.67468	0.2896	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.943	T	0.70107	-0.4963	10	0.87932	D	0	-22.6153	8.0664	0.30663	0.0:0.0:0.2059:0.7941	.	97;97	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	97	ENSP00000250056:S97P	ENSP00000250056:S97P	S	+	1	0	FAM64A	6289443	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	2.234000	0.43035	2.143000	0.66587	0.533000	0.62120	TCC		0.547	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		65	284	0	0	0	1	0	65	284					C	6348719	T	C	6348719	3	2	79	1	0	0	0	0	1	0	0	0	5623	1667	58	4	291	4	FAM64A	17	6348719	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11445	6348719	74846491	16796	27113											
PITPNM3	83394	broad.mit.edu	37	chr17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcctgcatgaggttgCgcaggaagatggccttctgc	12	12	2	2	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	825					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642																																						ENST00000262483.8																			0											c.(2473-2475)cGc>cAc				C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92	81	85		2366,2474	4.6	1	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	789/939,825/975	6364709	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr17:6364709C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2474G>A	17.37:g.6364709C>T	ENSP00000262483:p.Arg825His					ACKR6_ENST00000421306.3_Missense_Mutation_p.R789H|ACKR6_ENST00000576664.1_5'UTR	p.R825H	NM_031220.3	NP_112497.2					18	2561	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2474G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802640	0.70682	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76709	-1.04;-1.04	4.61	4.61	0.57282	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.50333	1.59	0.46356	D	0.999002	B;D	0.71674	0.33;0.998	B;D	0.63033	0.143;0.91	D	0.85338	0.1094	10	0.72032	D	0.01	.	15.3014	0.73955	0.0:1.0:0.0:0.0	.	789;825	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	825;789	ENSP00000262483:R825H;ENSP00000407882:R789H	ENSP00000262483:R825H	R	-	2	0	PITPNM3	6305433	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	1.527000	0.35975	2.293000	0.77203	0.462000	0.41574	CGC		0.642	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		97	378	0	0	0	1	0	97	378					T	6364709	C	T	6364709	3	4	79	1	0	0	0	0	1	0	0	0	11994	768	27	1	462	1	PITPNM3	17	6364709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15990	6364709	74830501	16797	27114											
PITPNM3	83394	broad.mit.edu	37	chr17	6376098	6376098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaggcagaggggtctgcGcaatggaagaagctgtagac	17	7	1	4	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000421306.3_Silent_p.C400C|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	436	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632																																						ENST00000262483.8																			0											c.(1306-1308)tgC>tgT				G	,	1,4405	2.1+/-5.4	0,1,2202	61	60	60		1200,1308	-10.2	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	400/939,436/975	6376098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6376098G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1308C>T	17.37:g.6376098G>A						ACKR6_ENST00000421306.3_Silent_p.C400C|ACKR6_ENST00000576664.1_5'UTR	p.C436C	NM_031220.3	NP_112497.2					11	1395	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1308C>T	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		49	185	0	0	0	1	0	49	185					A	6376098	G	A	6376098	2	1	79	1	0	0	0	0	0	0	0	1	11994	1079	38	1		1	PITPNM3	17	6376098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11389	6376098	74819112	16798	27115											
PITPNM3	83394	broad.mit.edu	37	chr17	6387061	6387061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttgcaggagcgctgCgggcagccttcctgagagcc	15	12	1	1	rs375235477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	121					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637																																						ENST00000262483.8																			0											c.(361-363)ccG>ccA				C	,	1,4405	2.1+/-5.4	0,1,2202	50	48	49		255,363	-10.3	0.1	17		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	85/939,121/975	6387061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6387061C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.363G>A	17.37:g.6387061C>T						ACKR6_ENST00000421306.3_Silent_p.P85P	p.P121P	NM_031220.3	NP_112497.2					6	450	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.363G>A	CCDS11076.1																																																																																				0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		74	286	0	0	0	1	0	74	286					T	6387061	C	T	6387061	2	4	79	1	0	0	0	0	0	0	0	1	11994	755	27	1		1	PITPNM3	17	6387061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10963	6387061	74808149	16799	27116											
TXNDC17	84817	broad.mit.edu	37	chr17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaatggcccgctatgaGgaggtgagcgtgtccggctt	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000250101.5	+	1	340	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000572370.1_5'Flank|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000361413.3_5'Flank	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	5					oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652																																						ENST00000250101.5																			0				endometrium(1)|kidney(1)|ovary(1)	3						c.(13-15)gaG>gaT		thioredoxin domain containing 17							28	28	28					17																	6544417		2203	4300	6503	SO:0001583	missense	84817				tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity	g.chr17:6544417G>T	BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"thioredoxin (Trx)-related protein, 14 kDa"		"thioredoxin-like 5"	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.15G>T	17.37:g.6544417G>T	ENSP00000250101:p.Glu5Asp					TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D	p.E5D	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN			1	340	+			5					A8K7E8	Missense_Mutation	SNP	ENST00000250101.5	37	c.15G>T	CCDS11077.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712972	0.30413	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.17	0.693	0.18056	Thioredoxin-like fold (2);	0.104888	0.64402	D	0.000005	T	0.55226	0.1907	M	0.77616	2.38	0.41089	D	0.985587	B	0.13594	0.008	B	0.08055	0.003	T	0.48317	-0.9046	9	0.51188	T	0.08	-1.5413	4.211	0.10512	0.3585:0.0:0.4922:0.1493	.	5	Q9BRA2	TXD17_HUMAN	D	5	.	ENSP00000250101:E5D	E	+	3	2	TXNDC17	6485141	1.000000	0.71417	0.309000	0.25155	0.114000	0.19823	0.547000	0.23299	-0.009000	0.14296	-0.251000	0.11542	GAG		0.652	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	NM_032731		32	137	1	0	8.16721e-17	1	8.9905e-17	32	137					T	6544417	G	T	6544417	3	4	79	1	0	0	0	0	1	0	0	0	16850	991	35	3	17	3	TXNDC17	17	6544417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157356	6544417	74650793	16800	27117											
MED31	51003	broad.mit.edu	37	chr17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttcggaagtgttcatAttggagcagctctaacatgt	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000225728.3	-	4	346	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	81					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(241-243)Tat>Cat		mediator complex subunit 31							108	97	100					17																	6547942		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6547942A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.241T>C	17.37:g.6547942A>G	ENSP00000225728:p.Tyr81His					MED31_ENST00000574128.1_Missense_Mutation_p.Y7H|MED31_ENST00000575197.1_3'UTR	p.Y81H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			4	346	-			81					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.241T>C	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789208	0.31685	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.69	5.69	0.88448	.	0.109888	0.64402	D	0.000004	T	0.44286	0.1286	N	0.21617	0.685	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.29822	-0.9999	9	0.29301	T	0.29	-9.6399	14.2142	0.65783	1.0:0.0:0.0:0.0	.	81	Q9Y3C7	MED31_HUMAN	H	81	.	ENSP00000225728:Y81H	Y	-	1	0	MED31	6488666	1.000000	0.71417	0.105000	0.21289	0.322000	0.28314	6.675000	0.74493	2.304000	0.77564	0.528000	0.53228	TAT		0.408	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		93	348	0	0	0	1	0	93	348					G	6547942	A	G	6547942	3	3	79	1	0	0	0	0	1	0	0	0	9490	449	16	4	158	4	MED31	17	6547942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3525	6547942	74647268	16801	27118											
SLC13A5	284111	broad.mit.edu	37	chr17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggaagttaaacttgggCttctgtgaaggcacaatgaa	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	374					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAAACTTGGGCTTCTGTGAAG	0.537																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1120-1122)aaG>aaT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							95	78	84					17																	6597450		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6597450C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1122G>T	17.37:g.6597450C>A	ENSP00000406220:p.Lys374Asn					SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N	p.K374N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			8	1355	-			374					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1122G>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545704	0.65198	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.05717	3.81;3.4	5.61	4.63	0.57726	.	0.229422	0.49916	D	0.000132	T	0.09992	0.0245	L	0.54965	1.715	0.38078	D	0.93658	P;P;P;P	0.47034	0.592;0.889;0.592;0.592	P;P;P;P	0.49140	0.601;0.543;0.601;0.482	T	0.04607	-1.0939	10	0.28530	T	0.3	.	7.884	0.29640	0.0:0.8298:0.0:0.1702	.	374;331;357;374	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	374;374;331	ENSP00000406220:K374N;ENSP00000370464:K331N	ENSP00000293800:K374N	K	-	3	2	SLC13A5	6538174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.272000	0.33109	2.815000	0.96918	0.561000	0.74099	AAG		0.537	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		19	146	1	0	2.39187e-15	1	2.61288e-15	19	146					A	6597450	C	A	6597450	3	1	79	1	0	0	0	0	1	0	0	0	14445	796	28	3	604	3	SLC13A5	17	6597450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49508	6597450	74597760	16802	27119											
TEKT1	83659	broad.mit.edu	37	chr17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccttcattagcctataTtgtgcgacatcacgacacag	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1000-1002)caA>caC		tektin 1							225	202	210					17																	6704113		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704113T>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1002A>C	17.37:g.6704113T>G	ENSP00000341346:p.Gln334His		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	p.Q334H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1131	-		Myeloproliferative disorder(207;0.0255)	334					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.1002A>C	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667815	0.29604	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03772	3.81;3.81	5.85	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	M	0.69248	2.105	0.51233	D	0.99991	B	0.23990	0.095	B	0.34873	0.191	T	0.09207	-1.0685	10	0.34782	T	0.22	.	10.0039	0.41946	0.0:0.778:0.0:0.222	.	334	Q969V4	TEKT1_HUMAN	H	334;188	ENSP00000341346:Q334H;ENSP00000444142:Q188H	ENSP00000341346:Q334H	Q	-	3	2	TEKT1	6644837	0.835000	0.29415	0.781000	0.31783	0.005000	0.04900	0.516000	0.22817	0.495000	0.27882	-0.789000	0.03336	CAA		0.572	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		153	671	0	0	0	1	0	153	671					G	6704113	T	G	6704113	3	3	79	1	0	0	0	0	1	0	0	0	15804	1490	52	4	262	4	TEKT1	17	6704113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106663	6704113	74491097	16803	27120											
TEKT1	83659	broad.mit.edu	37	chr17	6733612	6733612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatcgggacctttgagcGtctgctctgtggtactggtt	13	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000338694.2	-	2	213	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	28						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468																																						ENST00000535086.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20								tektin 1							106	97	100					17																	6733612		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6733612G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.84C>T	17.37:g.6733612G>A						TEKT1_ENST00000338694.2_Silent_p.D28D				Q969V4	TEKT1_HUMAN			0	158	-		Myeloproliferative disorder(207;0.0255)						D3DTM7	Translation_Start_Site	SNP	ENST00000338694.2	37		CCDS11083.1																																																																																				0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		33	286	0	0	0	1	0	33	286					A	6733612	G	A	6733612	2	1	79	1	0	0	0	0	0	0	0	1	15804	1136	40	1		1	TEKT1	17	6733612	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29499	6733612	74461598	16804	27121											
C17orf49	124944	broad.mit.edu	37	chr17	6920612	6920612	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctggccttctcatgacctCtgctgatcctcctctcctct	5	17	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6920612C>A	ENST00000439424.2	+	0	623				MIR497HG_ENST00000385056.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000546495.1_Missense_Mutation_p.S184Y|MIR497HG_ENST00000385194.1_RNA|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000443997.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.L225M|RP11-589P10.7_ENST00000572547.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						CTCATGACCTCTGCTGATCCT	0.592																																						ENST00000546495.1																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(550-552)tCt>tAt		chromosome 17 open reading frame 49							202	175	184					17																	6920612		2203	4300	6503	SO:0001624	3_prime_UTR_variant	124944				chromatin modification	MLL1 complex|NURF complex	DNA binding	g.chr17:6920612C>A	AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"BPTF associated protein of 18 kDa", "human embryo lung cellular protein interacting with SARS-CoV nsp-10"						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.*28C>A	17.37:g.6920612C>A						C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000439424.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|C17orf49_ENST00000547709.1_3'UTR|RNASEK-C17orf49_ENST00000607129.1_3'UTR|MIR497HG_ENST00000443997.1_RNA|RNASEK-C17orf49_ENST00000606880.1_3'UTR	p.S184Y			Q8IXM2	BAP18_HUMAN			6	914	+			0					B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	ENST00000439424.2	37	c.551C>A	CCDS32542.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.758440|2.758440	0.49468|0.49468	.|.	.|.	ENSG00000161939|ENSG00000258315	ENST00000547302|ENST00000546495;ENST00000546760;ENST00000552775	.|.	.|.	.|.	5.02|5.02	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.46908|0.46908	0.1417|0.1417	L|L	0.29908|0.29908	0.895|0.895	0.31099|0.31099	N|N	0.710612|0.710612	.|P	.|0.41848	.|0.763	.|P	.|0.44359	.|0.447	T|T	0.62487|0.62487	-0.6844|-0.6844	4|7	.|0.72032	.|D	.|0.01	.|.	12.9815|12.9815	0.58567|0.58567	0.0:0.8356:0.1643:0.0|0.0:0.8356:0.1643:0.0	.|.	.|184	.|C9J4G0	.|.	M|Y	225|184;149;158	.|.	.|ENSP00000448598:S184Y	L|S	+|+	1|2	2|0	C17orf49|AC040977.1	6861336|6861336	0.998000|0.998000	0.40836|0.40836	0.803000|0.803000	0.32268|0.32268	0.964000|0.964000	0.63967|0.63967	3.213000|3.213000	0.51153|0.51153	1.076000|1.076000	0.40961|0.40961	0.313000|0.313000	0.20887|0.20887	CTG|TCT		0.592	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407666.1	NM_174893		104	439	1	0	6.17869e-53	1	7.6938e-53	104	439					A	6920612	C	A	6920612	1	1	79	0	1	0	0	0	0	0	0	0	1866	913	32	3		3	C17orf49	17	6920612	3'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187000	6920612	74274598	16805	27122											
BCL6B	255877	broad.mit.edu	37	chr17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggacttcatgtacacttCgcgcctgcgcctctctccag	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642																																						ENST00000293805.5																			0				skin(1)	1						c.(295-297)tCg>tTg		B-cell CLL/lymphoma 6, member B							56	64	61					17																	6927518		2018	4173	6191	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927518C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.296C>T	17.37:g.6927518C>T	ENSP00000293805:p.Ser99Leu					BCL6B_ENST00000572216.1_Intron	p.S99L	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			3	388	+			99			BTB.		Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.296C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528841	0.96446	.	.	ENSG00000161940	ENST00000293805	T	0.71461	-0.57	5.18	5.18	0.71444	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.95504	3.68	0.48830	D	0.999714	D	0.89917	1.0	D	0.97110	1.0	D	0.91724	0.5391	10	0.87932	D	0	.	16.2254	0.82286	0.0:1.0:0.0:0.0	.	99	Q8N143	BCL6B_HUMAN	L	99	ENSP00000293805:S99L	ENSP00000293805:S99L	S	+	2	0	BCL6B	6868242	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	7.174000	0.77620	2.691000	0.91804	0.563000	0.77884	TCG		0.642	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		89	844	0	0	0	1	0	89	844					T	6927518	C	T	6927518	3	4	79	1	0	0	0	0	1	0	0	0	1378	893	31	1	302	1	BCL6B	17	6927518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6906	6927518	74267692	16806	27123											
SLC16A13	201232	broad.mit.edu	37	chr17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgggctttgaccttcGctccgaccctggcctgcctg	12	16	0	1	rs201987923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	123						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(367-369)Gct>Act		solute carrier family 16, member 13							83	81	82					17																	6941494		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941494G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.367G>A	17.37:g.6941494G>A	ENSP00000309751:p.Ala123Thr						p.A123T	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	675	+			123					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.367G>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446434	0.12223	.	.	ENSG00000174327	ENST00000308027	T	0.57436	0.4	5.39	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.159139	0.56097	N	0.000030	T	0.15176	0.0366	N	0.00864	-1.135	0.27525	N	0.951288	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.02654	T	1	.	3.697	0.08368	0.7016:0.0:0.1083:0.19	.	123	Q7RTY0	MOT13_HUMAN	T	123	ENSP00000309751:A123T	ENSP00000309751:A123T	A	+	1	0	SLC16A13	6882218	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.698000	0.47068	0.919000	0.36945	0.563000	0.77884	GCT		0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			73	326	0	0	0	1	0	73	326					A	6941494	G	A	6941494	3	1	79	1	0	0	0	0	1	0	0	0	14456	1087	38	1	377	1	SLC16A13	17	6941494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	6941494	74253716	16807	27124											
SLC16A13	201232	broad.mit.edu	37	chr17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctcctccttcacatTtgccccctttttccagtggc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	155						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(463-465)tTt>tGt		solute carrier family 16, member 13							66	70	69					17																	6941591		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941591T>G	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.464T>G	17.37:g.6941591T>G	ENSP00000309751:p.Phe155Cys						p.F155C	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	772	+			155					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.464T>G	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876462	0.72180	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.54	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105795	0.64402	D	0.000003	T	0.73353	0.3576	M	0.87180	2.865	0.44807	D	0.997815	D	0.89917	1.0	D	0.85130	0.997	T	0.75889	-0.3158	10	0.87932	D	0	.	9.6037	0.39622	0.0:0.0831:0.0:0.9169	.	155	Q7RTY0	MOT13_HUMAN	C	155	ENSP00000309751:F155C	ENSP00000309751:F155C	F	+	2	0	SLC16A13	6882315	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.627000	0.83176	0.935000	0.37341	0.460000	0.39030	TTT		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			72	335	0	0	0	1	0	72	335					G	6941591	T	G	6941591	3	3	79	1	0	0	0	0	1	0	0	0	14456	1841	64	4	474	4	SLC16A13	17	6941591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	6941591	74253619	16808	27125											
ASGR2	433	broad.mit.edu	37	chr17	7012170	7012170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaagcagaccatggaGcagagacgctgtgccagggg	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	ENST00000380952.2	-	3	426	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	54					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(160-162)tgC>tgT		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						51	39	43					17																	7012170		2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7012170G>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.162C>T	17.37:g.7012170G>A						ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			3	426	-			54					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.162C>T	CCDS32544.1																																																																																				0.647	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		21	81	0	0	0	1	0	21	81					A	7012170	G	A	7012170	2	1	79	1	0	0	0	0	0	0	0	1	1041	963	34	2		2	ASGR2	17	7012170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70579	7012170	74183040	16809	27126											
ASGR2	433	broad.mit.edu	37	chr17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcattttcctccgagCtcagctgctggatatcttga	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	12					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(34-36)aGc>aTc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						143	118	126					17																	7017525		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7017525C>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.35G>T	17.37:g.7017525C>A	ENSP00000370339:p.Ser12Ile					ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			2	299	-			12					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.35G>T	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036924	0.19669	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.17691	5.55;2.26;5.55;2.26	3.59	1.37	0.22104	.	0.553741	0.15021	N	0.284975	T	0.10809	0.0264	N	0.08118	0	0.23371	N	0.997814	P;D;P;P;P	0.53151	0.925;0.958;0.645;0.757;0.731	P;P;P;P;B	0.49451	0.611;0.563;0.46;0.544;0.395	T	0.13308	-1.0514	10	0.66056	D	0.02	.	5.1295	0.14903	0.0:0.2587:0.0:0.7413	.	12;12;12;12;12	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2	.;.;ASGR2_HUMAN;.;.	I	12	ENSP00000347140:S12I;ENSP00000254850:S12I;ENSP00000370339:S12I;ENSP00000405844:S12I	ENSP00000254850:S12I	S	-	2	0	ASGR2	6958249	0.899000	0.30636	0.905000	0.35620	0.174000	0.22865	0.538000	0.23160	0.268000	0.21939	-0.312000	0.09012	AGC		0.577	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		31	398	1	0	4.34311e-12	1	4.6502e-12	31	398					A	7017525	C	A	7017525	3	1	79	1	0	0	0	0	1	0	0	0	1041	797	28	3	932	3	ASGR2	17	7017525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	7017525	74177685	16810	27127											
ASGR1	432	broad.mit.edu	37	chr17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctgaccttcactcaggtCcttctgctgtttctccagct	6	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000269299.3	-	5	742	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D76N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	115					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547																																						ENST00000574388.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						c.(226-228)Gac>Aac		asialoglycoprotein receptor 1							207	174	185					17																	7080161		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080161C>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.343G>A	17.37:g.7080161C>T	ENSP00000269299:p.Asp115Asn					ASGR1_ENST00000269299.3_Missense_Mutation_p.D115N|ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N	p.D76N			P07306	ASGR1_HUMAN			3	1018	-			115					I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.226G>A	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760776	0.31137	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.43294	1.0;0.95	4.89	1.23	0.21249	Hepatic lectin, N-terminal (1);	0.961393	0.08593	N	0.922639	T	0.35770	0.0943	M	0.62723	1.935	0.20196	N	0.99993	B	0.31625	0.332	B	0.27380	0.079	T	0.37033	-0.9723	10	0.66056	D	0.02	.	3.4939	0.07648	0.2051:0.544:0.0:0.2508	.	115	P07306	ASGR1_HUMAN	N	115;76	ENSP00000269299:D115N;ENSP00000370307:D76N	ENSP00000269299:D115N	D	-	1	0	ASGR1	7020885	0.237000	0.23815	0.075000	0.20258	0.470000	0.32858	0.841000	0.27613	0.167000	0.19631	0.462000	0.41574	GAC		0.547	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		27	487	0	0	0	1	0	27	487					T	7080161	C	T	7080161	3	4	79	1	0	0	0	0	1	0	0	0	1040	855	30	2	552	2	ASGR1	17	7080161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62636	7080161	74115049	16811	27128											
DLG4	1742	broad.mit.edu	37	chr17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctttgttacatagatgCtattatctcctgggatgtgc	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399506.2	-	7	754	c.563G>T	c.(562-564)aGc>aTc	p.S188I	DLG4_ENST00000302955.6_Missense_Mutation_p.S185I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399510.2_Missense_Mutation_p.S231I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	188	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TACATAGATGCTATTATCTCC	0.577																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(691-693)aGc>aTc		discs, large homolog 4 (Drosophila)							103	97	99					17																	7106591		2031	4204	6235	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7106591C>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.563G>T	17.37:g.7106591C>A	ENSP00000382425:p.Ser188Ile					DLG4_ENST00000399506.2_Missense_Mutation_p.S188I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I	p.S231I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			9	1544	-			188			PDZ 2.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.692G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360385	0.82353	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51924	0.1703	L	0.56340	1.77	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.986;0.97;0.988;0.961;0.999	D;D;D;D;D	0.83275	0.989;0.961;0.944;0.945;0.996	T	0.53308	-0.8457	9	0.87932	D	0	.	16.3121	0.82883	0.0:1.0:0.0:0.0	.	228;188;185;185;231	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	I	188;185;231;231;128;231;221;218	ENSP00000382425:S188I;ENSP00000307471:S185I;ENSP00000382428:S231I;ENSP00000388122:S218I	ENSP00000293813:S231I	S	-	2	0	DLG4	7047315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.484000	0.81180	2.447000	0.82792	0.557000	0.71058	AGC		0.577	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		27	148	1	0	4.59853e-10	1	4.86106e-10	27	148					A	7106591	C	A	7106591	3	1	79	1	0	0	0	0	1	0	0	0	4573	797	28	3	1667	3	DLG4	17	7106591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26430	7106591	74088619	16812	27129											
DVL2	1856	broad.mit.edu	37	chr17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggccatgccagggggcGgtccatagggatggagccct	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	669					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(2005-2007)cCg>cTg		dishevelled segment polarity protein 2							34	38	36					17																	7129389		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129389G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2006C>T	17.37:g.7129389G>A	ENSP00000005340:p.Pro669Leu					DVL2_ENST00000575458.1_Missense_Mutation_p.P663L	p.P669L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2288	-			669					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.2006C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193054	0.09599	.	.	ENSG00000004975	ENST00000005340	T	0.04275	3.66	5.74	3.6	0.41247	Dishevelled C-terminal (1);	0.445516	0.24407	N	0.038790	T	0.02156	0.0067	N	0.08118	0	0.19575	N	0.999962	P;P	0.38110	0.618;0.618	B;B	0.27715	0.082;0.082	T	0.50092	-0.8868	10	0.25106	T	0.35	-4.3549	10.3068	0.43685	0.0:0.1472:0.7005:0.1523	.	663;669	B4DLQ0;O14641	.;DVL2_HUMAN	L	669	ENSP00000005340:P669L	ENSP00000005340:P669L	P	-	2	0	DVL2	7070113	1.000000	0.71417	0.523000	0.27875	0.974000	0.67602	4.992000	0.63889	1.396000	0.46663	0.561000	0.74099	CCG		0.667	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		77	293	0	0	0	1	0	77	293					A	7129389	G	A	7129389	3	1	79	1	0	0	0	0	1	0	0	0	4852	1116	39	1	208	1	DVL2	17	7129389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22798	7129389	74065821	16813	27130											
DVL2	1856	broad.mit.edu	37	chr17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcggctcaccatcagGcaaagacgatccagatgtaa	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000575458.1_Missense_Mutation_p.P403S|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	409					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1225-1227)Cct>Tct		dishevelled segment polarity protein 2							63	62	62					17																	7130980		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7130980G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1225C>T	17.37:g.7130980G>A	ENSP00000005340:p.Pro409Ser					DVL2_ENST00000575458.1_Missense_Mutation_p.P403S	p.P409S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			11	1507	-			409					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1225C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555622	0.45487	.	.	ENSG00000004975	ENST00000005340	T	0.05855	3.38	4.69	4.69	0.59074	.	0.121077	0.56097	D	0.000032	T	0.09291	0.0229	L	0.55213	1.73	0.42008	D	0.990925	P;B	0.38711	0.643;0.435	B;B	0.42422	0.387;0.157	T	0.13656	-1.0501	10	0.30078	T	0.28	-11.0428	10.2236	0.43212	0.0:0.0:0.802:0.198	.	403;409	B4DLQ0;O14641	.;DVL2_HUMAN	S	409	ENSP00000005340:P409S	ENSP00000005340:P409S	P	-	1	0	DVL2	7071704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.964000	0.63701	2.446000	0.82766	0.655000	0.94253	CCT		0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		37	141	0	0	0	1	0	37	141					A	7130980	G	A	7130980	3	1	79	1	0	0	0	0	1	0	0	0	4852	1203	42	2	1005	2	DVL2	17	7130980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1591	7130980	74064230	16814	27131											
DVL2	1856	broad.mit.edu	37	chr17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcactgctgtctctcctgCgaggccgctcccgcctcagt	10	18	3	0	rs144205338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(493-495)cGc>cAc		dishevelled segment polarity protein 2							47	44	45					17																	7133391		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133391C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.494G>A	17.37:g.7133391C>T	ENSP00000005340:p.Arg165His					DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	p.R165H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			4	776	-			165					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.494G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	DVL2	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC		0.642	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		14	295	0	0	0	1	0	14	295					T	7133391	C	T	7133391	3	4	79	1	0	0	0	0	1	0	0	0	4852	768	27	1	1764	1	DVL2	17	7133391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2411	7133391	74061819	16815	27132											
DULLARD	23399	broad.mit.edu	37	chr17	7147563	7147563	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgaacatcagcggtgaAcctggggtgacaataacttg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7147563A>G	ENST00000573600.1	-	9	1097	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	CTD-2545G14.7_ENST00000570760.2_Intron|CTDNEP1_ENST00000574322.1_Splice_Site_p.F226L|GABARAP_ENST00000571253.1_5'Flank|CTDNEP1_ENST00000572043.1_Splice_Site_p.F93L|GABARAP_ENST00000302386.5_5'Flank|GABARAP_ENST00000573928.1_5'Flank|GABARAP_ENST00000577035.1_5'Flank|CTDNEP1_ENST00000318988.6_Splice_Site_p.F226L|GABARAP_ENST00000571129.1_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	226					gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGGTGAACCTGGGGTGA	0.522																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.e9-1		CTD nuclear envelope phosphatase 1							119	91	100					17																	7147563		2203	4299	6502	SO:0001630	splice_region_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7147563A>G	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.675-1T>C	17.37:g.7147563A>G						CTD-2545G14.7_ENST00000570760.2_Intron|CTDNEP1_ENST00000318988.6_Splice_Site_p.F226_splice|CTDNEP1_ENST00000572043.1_Splice_Site_p.F93_splice|CTDNEP1_ENST00000574322.1_Splice_Site_p.F226_splice	p.F226_splice			O95476	CNEP1_HUMAN			9	1097	-			226					D3DTN7|Q96GQ9	Splice_Site	SNP	ENST00000573600.1	37	c.674_splice	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452410	0.84209	.	.	ENSG00000175826	ENST00000318988	T	0.16743	2.32	4.72	4.72	0.59763	NLI interacting factor (1);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21793	-1.0235	10	0.08179	T	0.78	-14.8032	10.5174	0.44898	1.0:0.0:0.0:0.0	.	226	O95476	CNEP1_HUMAN	L	226	ENSP00000321732:F226L	ENSP00000321732:F226L	F	-	1	0	CTDNEP1	7088287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.239000	0.78182	1.973000	0.57446	0.459000	0.35465	TTC		0.522	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	Missense_Mutation	5	164	0	0	0	1	0	5	164					G	7147563	A	G	7147563	5	3	79	1	0	0	0	0	0	0	1	0	4815	57	2	4	62	4	DULLARD	17	7147563	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14172	7147563	74047647	16816	27133											
YBX2	51087	broad.mit.edu	37	chr17	7195345	7195345	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagctaacctagctcttacCtggtgaacaaagacatcttc	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.e3+1		Y box binding protein 2							149	119	129					17																	7195345		2203	4300	6503	SO:0001630	splice_region_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7195345C>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.369+1G>T	17.37:g.7195345C>A						YBX2_ENST00000570627.1_5'UTR	p.Q123_splice	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			3	432	-			123			CSD.|Required for cytoplasmic retention (By similarity).		D3DTP1|Q8N4P0	Splice_Site	SNP	ENST00000007699.5	37	c.369_splice	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327992	0.95733	.	.	ENSG00000006047	ENST00000007699	T	0.35048	1.33	5.05	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.202863	0.44902	D	0.000411	T	0.54287	0.1849	L	0.49256	1.55	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.46359	-0.9197	9	.	.	.	-24.0131	16.7077	0.85376	0.0:1.0:0.0:0.0	.	123	Q9Y2T7	YBOX2_HUMAN	H	123	ENSP00000007699:Q123H	.	Q	-	3	2	YBX2	7136069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.905000	0.75714	2.744000	0.94065	0.561000	0.74099	CAG		0.517	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982	Missense_Mutation	62	293	1	0	1.53134e-21	1	1.72607e-21	62	293					A	7195345	C	A	7195345	5	1	79	1	0	0	0	0	0	0	1	0	17524	695	24	3	749	3	YBX2	17	7195345	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47782	7195345	73999865	16817	27134											
NEURL4	84461	broad.mit.edu	37	chr17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagcccaacctcagcatCcatgtgtcatagtcaatgtc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	803	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572																																						ENST00000399464.2																			2	Substitution - Missense(2)	p.W803F(2)	lung(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2407-2409)tgG>tgA		neuralized E3 ubiquitin protein ligase 4							127	138	134					17																	7226812		2090	4216	6306	SO:0001587	stop_gained	84461							g.chr17:7226812C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2409G>A	17.37:g.7226812C>T	ENSP00000382390:p.Trp803*					NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*	p.W803*	NM_032442.2	NP_115818.2					14	2424	-								Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.2409G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	38	7.242072	0.98157	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6908	17.0257	0.86446	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000319826:W803X	W	-	3	0	NEURL4	7167536	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	TGG		0.572	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		40	170	0	0	0	1	0	40	170					T	7226812	C	T	7226812	4	4	79	1	0	0	0	0	0	1	0	0	10389	856	30	2	2343	2	NEURL4	17	7226812	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	7226812	73968398	16818	27135											
NEURL4	84461	broad.mit.edu	37	chr17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccatcttgtcgatgcGcacctggaacacctctccat	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	569	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			2	Substitution - Missense(2)	p.R569C(2)	large_intestine(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1705-1707)Cgc>Tgc		neuralized E3 ubiquitin protein ligase 4							199	210	206					17																	7228226		2180	4275	6455	SO:0001583	missense	84461							g.chr17:7228226G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1705C>T	17.37:g.7228226G>A	ENSP00000382390:p.Arg569Cys		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C	p.R569C	NM_032442.2	NP_115818.2					9	1720	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1705C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	NEURL4	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC		0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		152	644	0	0	0	1	0	152	644					A	7228226	G	A	7228226	3	1	79	1	0	0	0	0	1	0	0	0	10389	1087	38	1	3067	1	NEURL4	17	7228226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1414	7228226	73966984	16819	27136											
NEURL4	84461	broad.mit.edu	37	chr17	7228773	7228773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatacaccactgggggCgtcaagggggttgccactcc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228773C>T	ENST00000399464.2	-	8	1401	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	462	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGGGGGCGTCAAGGGGG	0.582																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1384-1386)acG>acA		neuralized E3 ubiquitin protein ligase 4							72	75	74					17																	7228773		2033	4174	6207	SO:0001819	synonymous_variant	84461							g.chr17:7228773C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1386G>A	17.37:g.7228773C>T						NEURL4_ENST00000570460.1_Silent_p.T440T|NEURL4_ENST00000315614.7_Silent_p.T462T	p.T462T	NM_032442.2	NP_115818.2					8	1401	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.1386G>A	CCDS42251.1																																																																																				0.582	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	347	0	0	0	1	0	9	347					T	7228773	C	T	7228773	2	4	79	1	0	0	0	0	0	0	0	1	10389	755	27	1		1	NEURL4	17	7228773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	7228773	73966437	16820	27137											
ACAP1	9744	broad.mit.edu	37	chr17	7249714	7249714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttatcctgccaggaccCtgtgactgtggtggtggatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7249714C>T	ENST00000158762.3	+	12	1117	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	304	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCCAGGACCCTGTGACTGTG	0.587											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(910-912)cCt>cTt		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							136	120	125					17																	7249714		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7249714C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.911C>T	17.37:g.7249714C>T	ENSP00000158762:p.Pro304Leu		OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640		p.P304L	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			12	1117	+			304			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.911C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700368	0.48307	.	.	ENSG00000072818	ENST00000158762	T	0.73363	-0.74	5.7	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.072080	0.64402	D	0.000014	T	0.65091	0.2658	L	0.28192	0.835	0.80722	D	1	P	0.49559	0.925	P	0.48270	0.572	T	0.64993	-0.6276	10	0.46703	T	0.11	.	7.7447	0.28862	0.0:0.8273:0.0:0.1727	.	304	Q15027	ACAP1_HUMAN	L	304	ENSP00000158762:P304L	ENSP00000158762:P304L	P	+	2	0	ACAP1	7190438	0.293000	0.24371	0.997000	0.53966	0.897000	0.52465	1.853000	0.39358	2.702000	0.92279	0.491000	0.48974	CCT		0.587	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		95	385	0	0	0	1	0	95	385					T	7249714	C	T	7249714	3	4	79	1	0	0	0	0	1	0	0	0	118	681	24	2	957	2	ACAP1	17	7249714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20941	7249714	73945496	16821	27138											
KCTD11	147040	broad.mit.edu	37	chr17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcctcaatttcctgaggCtgggccgcctggacctgccc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	42	BTB.				cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(124-126)Ctg>Atg		potassium channel tetramerization domain containing 11							26	26	26					17																	7256385		2203	4300	6503	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256385C>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.124C>A	17.37:g.7256385C>A	ENSP00000328352:p.Leu42Met					RP11-542C16.1_ENST00000572417.1_RNA	p.L42M	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1178	+		Prostate(122;0.157)	42			BTB.		B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.124C>A	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243281	0.58995	.	.	ENSG00000213859	ENST00000333751	T	0.76578	-1.03	5.27	4.29	0.51040	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.218004	0.22695	U	0.056762	T	0.81517	0.4839	L	0.49778	1.585	0.30483	N	0.772147	D	0.65815	0.995	D	0.68621	0.959	T	0.78081	-0.2343	10	0.59425	D	0.04	.	7.1681	0.25702	0.1675:0.7433:0.0:0.0891	.	42	Q693B1	KCD11_HUMAN	M	42	ENSP00000328352:L42M	ENSP00000328352:L42M	L	+	1	2	KCTD11	7197109	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	0.356000	0.20181	2.466000	0.83321	0.655000	0.94253	CTG		0.662	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		41	166	1	0	2.52637e-11	1	2.69424e-11	41	166					A	7256385	C	A	7256385	3	1	79	1	0	0	0	0	1	0	0	0	8128	796	28	3	126	3	KCTD11	17	7256385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6671	7256385	73938825	16822	27139											
KCTD11	147040	broad.mit.edu	37	chr17	7256609	7256609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcactatgagctgagctcCgtccaggtggacaccttccg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256609C>T	ENST00000333751.3	+	1	1402	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	116					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGCTGAGCTCCGTCCAGGTGG	0.622																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(346-348)tcC>tcT		potassium channel tetramerization domain containing 11							78	65	70					17																	7256609		2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256609C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.348C>T	17.37:g.7256609C>T						RP11-542C16.1_ENST00000572417.1_RNA	p.S116S	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1402	+		Prostate(122;0.157)	116					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.348C>T	CCDS32545.1																																																																																				0.622	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		17	501	0	0	0	1	0	17	501					T	7256609	C	T	7256609	2	4	79	1	0	0	0	0	0	0	0	1	8128	639	23	1		1	KCTD11	17	7256609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	7256609	73938601	16823	27140											
KCTD11	147040	broad.mit.edu	37	chr17	7256700	7256700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttggtgtggccagtgggGatagggcagaggggagccca	20	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256700G>A	ENST00000333751.3	+	1	1493	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	147					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGCCAGTGGGGATAGGGCAGA	0.637																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(439-441)Gat>Aat		potassium channel tetramerization domain containing 11							78	70	73					17																	7256700		2203	4300	6503	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256700G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.439G>A	17.37:g.7256700G>A	ENSP00000328352:p.Asp147Asn					RP11-542C16.1_ENST00000572417.1_RNA	p.D147N	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1493	+		Prostate(122;0.157)	147					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.439G>A	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.500956	0.12822	.	.	ENSG00000213859	ENST00000333751	T	0.69040	-0.37	4.99	4.99	0.66335	.	0.487982	0.16655	U	0.205050	T	0.45216	0.1331	N	0.14661	0.345	0.31909	N	0.614981	B	0.23058	0.079	B	0.18871	0.023	T	0.37663	-0.9696	10	0.02654	T	1	.	13.7657	0.62992	0.0:0.0:1.0:0.0	.	147	Q693B1	KCD11_HUMAN	N	147	ENSP00000328352:D147N	ENSP00000328352:D147N	D	+	1	0	KCTD11	7197424	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	2.761000	0.47589	2.316000	0.78162	0.462000	0.41574	GAT		0.637	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		10	615	0	0	0	1	0	10	615					A	7256700	G	A	7256700	3	1	79	1	0	0	0	0	1	0	0	0	8128	1174	41	2	441	2	KCTD11	17	7256700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	7256700	73938510	16824	27141											
KCTD11	147040	broad.mit.edu	37	chr17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggccaggagagcggCgggaggtggtgggcacccca	22	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	188					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(562-564)Cgg>Tgg		potassium channel tetramerization domain containing 11							15	19	17					17																	7256823		2167	4253	6420	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256823C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.562C>T	17.37:g.7256823C>T	ENSP00000328352:p.Arg188Trp					RP11-542C16.1_ENST00000572417.1_RNA	p.R188W	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1616	+		Prostate(122;0.157)	188					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.562C>T	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237051	0.58886	.	.	ENSG00000213859	ENST00000333751	T	0.71461	-0.57	4.94	2.86	0.33363	.	0.130623	0.29009	U	0.013434	T	0.68430	0.3000	N	0.19112	0.55	0.29962	N	0.819331	D	0.76494	0.999	P	0.62014	0.897	T	0.66642	-0.5872	10	0.66056	D	0.02	.	9.9281	0.41505	0.3702:0.6298:0.0:0.0	.	188	Q693B1	KCD11_HUMAN	W	188	ENSP00000328352:R188W	ENSP00000328352:R188W	R	+	1	2	KCTD11	7197547	0.144000	0.22641	0.592000	0.28758	0.930000	0.56654	0.415000	0.21181	0.622000	0.30249	0.462000	0.41574	CGG		0.677	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		51	191	0	0	0	1	0	51	191					T	7256823	C	T	7256823	3	4	79	1	0	0	0	0	1	0	0	0	8128	759	27	1	564	1	KCTD11	17	7256823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	7256823	73938387	16825	27142											
TMEM95	339168	broad.mit.edu	37	chr17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctgtcgcctcccagCccacgacttgtcaggccgcc	9	18	3	0	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000576060.1	+	1	98	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_ENST00000389982.4_Missense_Mutation_p.A24V|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	24						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662																																						ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(70-72)gCc>gTc		transmembrane protein 95		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30	31	31		71	-3.2	0	17	dbSNP_134	31	0,8600		0,0,4300	no	missense	TMEM95	NM_198154.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	24/185	7258594	1,13005	2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7258594C>T		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.71C>T	17.37:g.7258594C>T	ENSP00000460828:p.Ala24Val					TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|TMEM95_ENST00000576060.1_Missense_Mutation_p.A24V	p.A24V			Q3KNT9	TMM95_HUMAN			1	153	+		Prostate(122;0.173)	24					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	C	18.74	3.688647	0.68271	2.27E-4	0.0	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	-3.19	0.05171	.	0.596942	0.13945	N	0.351909	T	0.31167	0.0788	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33238	0.403;0.403;0.403	B;B;B	0.38842	0.161;0.283;0.161	T	0.24012	-1.0172	9	0.41790	T	0.15	.	14.8977	0.70656	0.7628:0.2372:0.0:0.0	.	24;24;24	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	V	24	.	ENSP00000331466:A24V	A	+	2	0	TMEM95	7199318	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.615000	0.05597	-0.717000	0.04955	0.561000	0.74099	GCC		0.662	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		36	192	0	0	0	1	0	36	192					T	7258594	C	T	7258594	3	4	79	1	0	0	0	0	1	0	0	0	16275	739	26	2	73	2	TMEM95	17	7258594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1771	7258594	73936616	16826	27143											
TMEM95	339168	broad.mit.edu	37	chr17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagctctctgtccccccGcctgccgtgagtaggaaagg	11	14	2	1	rs199941572		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000576060.1	+	4	349	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_ENST00000389982.4_Missense_Mutation_p.A108T|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	108						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(322-324)Gcc>Acc		transmembrane protein 95		G	THR/ALA	0,4406		0,0,2203	76	76	76		322	1.7	0.2	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM95	NM_198154.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	108/185	7259362	1,13005	2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7259362G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.322G>A	17.37:g.7259362G>A	ENSP00000460828:p.Ala108Thr		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|TMEM95_ENST00000576060.1_Missense_Mutation_p.A108T	p.A108T			Q3KNT9	TMM95_HUMAN			4	404	+		Prostate(122;0.173)	108					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.322G>A		.	.	.	.	.	.	.	.	.	.	G	12.46	1.944504	0.34283	0.0	1.16E-4	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	1.7	0.24286	.	0.179711	0.27176	N	0.020567	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	0.999995	B;P;B	0.34462	0.168;0.454;0.168	B;B;B	0.26614	0.022;0.071;0.022	T	0.10989	-1.0606	9	0.45353	T	0.12	.	4.215	0.10530	0.1913:0.0:0.6273:0.1814	.	108;108;108	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	T	108	.	ENSP00000331466:A108T	A	+	1	0	TMEM95	7200086	0.001000	0.12720	0.233000	0.24025	0.123000	0.20343	0.341000	0.19909	0.250000	0.21479	-0.215000	0.12644	GCC		0.597	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		118	407	0	0	0	1	0	118	407					A	7259362	G	A	7259362	3	1	79	1	0	0	0	0	1	0	0	0	16275	1087	38	1	336	1	TMEM95	17	7259362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	768	7259362	73935848	16827	27144											
TMEM95	339168	broad.mit.edu	37	chr17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcaaggggacggagGtgtcctgctggccccgaaag	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000576060.1	+	5	403	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_ENST00000389982.4_Missense_Mutation_p.V126M|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	126						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(376-378)Gtg>Atg		transmembrane protein 95							30	32	31					17																	7259562		2203	4299	6502	SO:0001583	missense	339168					integral to membrane		g.chr17:7259562G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.376G>A	17.37:g.7259562G>A	ENSP00000460828:p.Val126Met		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|TMEM95_ENST00000576060.1_Missense_Mutation_p.V126M	p.V126M			Q3KNT9	TMM95_HUMAN			5	458	+		Prostate(122;0.173)	126					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.376G>A		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009211	0.54361	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.14	4.17	0.49024	.	0.856802	0.09501	N	0.793645	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	1	P;D;P	0.58620	0.936;0.983;0.936	P;P;P	0.58873	0.73;0.847;0.73	T	0.26155	-1.0111	9	0.62326	D	0.03	.	9.6214	0.39723	0.0945:0.0:0.9055:0.0	.	126;126;134	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	M	126;134	.	ENSP00000331466:V134M	V	+	1	0	TMEM95	7200286	0.786000	0.28738	0.023000	0.16930	0.046000	0.14306	4.520000	0.60524	1.410000	0.46936	-0.291000	0.09656	GTG		0.687	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		53	176	0	0	0	1	0	53	176					A	7259562	G	A	7259562	3	1	79	1	0	0	0	0	1	0	0	0	16275	1261	44	2	418	2	TMEM95	17	7259562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	7259562	73935648	16828	27145											
TNK1	8711	broad.mit.edu	37	chr17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatcaccccatgggaatgCctggagcccgtaaagccgct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000576812.1	+	11	2086	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	TNK1_ENST00000570896.1_Missense_Mutation_p.P568T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(1702-1704)Cct>Act		tyrosine kinase, non-receptor, 1							49	55	53					17																	7291949		1889	4125	6014	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7291949C>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1717C>A	17.37:g.7291949C>A	ENSP00000459799:p.Pro573Thr					TNK1_ENST00000311668.2_Missense_Mutation_p.P568T|TNK1_ENST00000576812.1_Missense_Mutation_p.P573T	p.P568T			Q13470	TNK1_HUMAN			12	2148	+		Prostate(122;0.157)	573			Pro-rich.			Missense_Mutation	SNP	ENST00000576812.1	37	c.1702C>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626753	0.14257	.	.	ENSG00000174292	ENST00000311668	T	0.76968	-1.06	5.26	3.28	0.37604	.	0.460571	0.18670	N	0.134461	T	0.58509	0.2127	N	0.08118	0	0.24072	N	0.995972	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.54091	-0.8345	10	0.66056	D	0.02	.	7.5516	0.27800	0.0:0.7366:0.0:0.2634	.	568;573	Q13470-2;Q13470	.;TNK1_HUMAN	T	568	ENSP00000312309:P568T	ENSP00000312309:P568T	P	+	1	0	TNK1	7232673	0.019000	0.18553	0.432000	0.26747	0.022000	0.10575	-0.037000	0.12164	0.735000	0.32537	0.655000	0.94253	CCT		0.577	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		44	224	1	0	6.5261e-18	1	7.22248e-18	44	224					A	7291949	C	A	7291949	3	1	79	1	0	0	0	0	1	0	0	0	16369	739	26	3	1740	3	TNK1	17	7291949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32387	7291949	73903261	16829	27146											
NLGN2	57555	broad.mit.edu	37	chr17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaggcgacgctcaatcCgccagacacaggtagattta	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	166					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P166L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502																																						ENST00000302926.2																			1	Substitution - Missense(1)	p.P166L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(496-498)cCg>cTg		neuroligin 2							74	73	73					17																	7315515		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7315515C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.497C>T	17.37:g.7315515C>T	ENSP00000305288:p.Pro166Leu					NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			2	570	+		Prostate(122;0.157)	166					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.497C>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446465	0.25987	.	.	ENSG00000169992	ENST00000302926	T	0.67345	-0.26	5.47	5.47	0.80525	Carboxylesterase, type B (1);	1.061950	0.07418	N	0.893516	T	0.51534	0.1680	N	0.08118	0	0.53688	D	0.999978	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33141	T	0.24	.	15.1723	0.72884	0.0:1.0:0.0:0.0	.	166	Q8NFZ4	NLGN2_HUMAN	L	166	ENSP00000305288:P166L	ENSP00000305288:P166L	P	+	2	0	NLGN2	7256239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.133000	0.57983	2.729000	0.93468	0.555000	0.69702	CCG		0.502	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		70	319	0	0	0	1	0	70	319					T	7315515	C	T	7315515	3	4	79	1	0	0	0	0	1	0	0	0	10504	652	23	1	503	1	NLGN2	17	7315515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23566	7315515	73879695	16830	27147											
NLGN2	57555	broad.mit.edu	37	chr17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactacgacatgctcatcGgcgtcaaccagggagagggc	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1141-1143)Ggc>Agc		neuroligin 2							202	157	172					17																	7318933		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7318933G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1141G>A	17.37:g.7318933G>A	ENSP00000305288:p.Gly381Ser					NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			6	1214	+		Prostate(122;0.157)	381					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1141G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948818	0.92660	.	.	ENSG00000169992	ENST00000302926	D	0.86030	-2.06	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	381	Q8NFZ4	NLGN2_HUMAN	S	381	ENSP00000305288:G381S	ENSP00000305288:G381S	G	+	1	0	NLGN2	7259657	1.000000	0.71417	0.928000	0.36995	0.911000	0.54048	9.507000	0.97996	2.826000	0.97356	0.561000	0.74099	GGC		0.587	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		128	593	0	0	0	1	0	128	593					A	7318933	G	A	7318933	3	1	79	1	0	0	0	0	1	0	0	0	10504	1116	39	1	1163	1	NLGN2	17	7318933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3418	7318933	73876277	16831	27148											
SPEM1	374768	broad.mit.edu	37	chr17	7323765	7323765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacaactgcaacagcaacaGctgccaggacctgggcaact	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	ENST00000323675.3	+	1	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	21					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AACAGCAACAGCTGCCAGGAC	0.607																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(61-63)aGc>aTc		spermatid maturation 1							31	35	34					17																	7323765		1941	4152	6093	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7323765G>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.62G>T	17.37:g.7323765G>T	ENSP00000315554:p.Ser21Ile					RP11-104H15.7_ENST00000575310.1_RNA	p.S21I	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			1	87	+		Prostate(122;0.173)	21						Missense_Mutation	SNP	ENST00000323675.3	37	c.62G>T	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893486	0.52121	.	.	ENSG00000181323	ENST00000323675	T	0.56275	0.47	4.97	-9.92	0.00455	.	0.622559	0.14047	N	0.345034	T	0.32704	0.0838	L	0.38175	1.15	0.09310	N	0.99999	P	0.43701	0.815	B	0.40009	0.316	T	0.40213	-0.9575	10	0.66056	D	0.02	-4.0837	9.1542	0.36983	0.163:0.3567:0.4802:0.0	.	21	Q8N4L4	SPEM1_HUMAN	I	21	ENSP00000315554:S21I	ENSP00000315554:S21I	S	+	2	0	SPEM1	7264489	0.029000	0.19370	0.844000	0.33320	0.930000	0.56654	-1.444000	0.02403	-1.398000	0.02066	0.491000	0.48974	AGC		0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		18	57	1	0	1.67942e-08	1	1.75525e-08	18	57					T	7323765	G	T	7323765	3	4	79	1	0	0	0	0	1	0	0	0	15089	971	34	3	64	3	SPEM1	17	7323765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4832	7323765	73871445	16832	27149											
SPEM1	374768	broad.mit.edu	37	chr17	7323996	7323996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgttccatgataccatTtgtgagaaaggtaagaggtc	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	65					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(193-195)atT>atC		spermatid maturation 1							101	103	103					17																	7323996		1943	4133	6076	SO:0001819	synonymous_variant	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7323996T>C	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.195T>C	17.37:g.7323996T>C						RP11-104H15.7_ENST00000575310.1_RNA	p.I65I	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			2	220	+		Prostate(122;0.173)	65						Silent	SNP	ENST00000323675.3	37	c.195T>C	CCDS42254.1																																																																																				0.567	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		84	324	0	0	0	1	0	84	324					C	7323996	T	C	7323996	2	2	79	1	0	0	0	0	0	0	0	1	15089	1829	64	4		4	SPEM1	17	7323996	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231	7323996	73871214	16833	27150											
SPEM1	374768	broad.mit.edu	37	chr17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaccatccgcttccagCctaccgtagaggaaaggccc	9	17	0	2	rs376973970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	183					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(547-549)Cct>Tct		spermatid maturation 1							42	46	45					17																	7324541		1933	4120	6053	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324541C>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.547C>T	17.37:g.7324541C>T	ENSP00000315554:p.Pro183Ser					RP11-104H15.7_ENST00000575310.1_RNA	p.P183S	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	572	+		Prostate(122;0.173)	183						Missense_Mutation	SNP	ENST00000323675.3	37	c.547C>T	CCDS42254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.428|6.428	0.447118|0.447118	0.12223|0.12223	.|.	.|.	ENSG00000181323|ENSG00000181323	ENST00000323383|ENST00000323675	.|.	.|.	.|.	5.77|5.77	-0.132|-0.132	0.13489|0.13489	.|.	.|1.207430	.|0.06081	.|N	.|0.661900	.|T	.|0.29389	.|0.0732	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	.|T	.|0.26643	.|-1.0097	.|9	.|0.42905	.|T	.|0.14	.|-0.5037	6.5152|6.5152	0.22244|0.22244	0.0:0.3983:0.4283:0.1734|0.0:0.3983:0.4283:0.1734	.|.	.|183	.|Q8N4L4	.|SPEM1_HUMAN	.|S	-1|183	.|.	.|ENSP00000315554:P183S	.|P	+|+	.|1	.|0	SPEM1|SPEM1	7265265|7265265	0.001000|0.001000	0.12720|0.12720	0.055000|0.055000	0.19348|0.19348	0.003000|0.003000	0.03518|0.03518	-0.510000|-0.510000	0.06328|0.06328	-0.208000|-0.208000	0.10171|0.10171	-0.150000|-0.150000	0.13652|0.13652	.|CCT		0.617	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		34	201	0	0	0	1	0	34	201					T	7324541	C	T	7324541	3	4	79	1	0	0	0	0	1	0	0	0	15089	739	26	2	557	2	SPEM1	17	7324541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	7324541	73870669	16834	27151											
C17orf74	201243	broad.mit.edu	37	chr17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgtcacctgagctgCgctgcatgcccaagcgtgta	10	14	2	1	rs554324110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	241						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17145	0.0		0.0	False		,,,				2504	0.0					ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(721-723)Cgc>Tgc		chromosome 17 open reading frame 74							43	48	46					17																	7330031		2143	4249	6392	SO:0001583	missense	201243					integral to membrane		g.chr17:7330031C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.721C>T	17.37:g.7330031C>T	ENSP00000328061:p.Arg241Cys					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.R241C	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	795	+		Prostate(122;0.157)	241						Missense_Mutation	SNP	ENST00000333870.3	37	c.721C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474133	0.63737	.	.	ENSG00000184560	ENST00000333870	T	0.39056	1.1	3.51	3.51	0.40186	.	0.145422	0.31589	N	0.007383	T	0.50205	0.1602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52563	-0.8559	10	0.87932	D	0	0.0672	10.8416	0.46720	0.0:1.0:0.0:0.0	.	241	Q0P670	CQ074_HUMAN	C	241	ENSP00000328061:R241C	ENSP00000328061:R241C	R	+	1	0	C17orf74	7270755	0.638000	0.27225	0.996000	0.52242	0.902000	0.53008	0.813000	0.27225	2.248000	0.74166	0.491000	0.48974	CGC		0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		47	194	0	0	0	1	0	47	194					T	7330031	C	T	7330031	3	4	79	1	0	0	0	0	1	0	0	0	1885	768	27	1	731	1	C17orf74	17	7330031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5490	7330031	73865179	16835	27152											
ZBTB4	57659	broad.mit.edu	37	chr17	7366349	7366351	+	In_Frame_Del	DEL	TCC	TCC	-													cagcctttgattcctcctcaTcctcctcctcctcctcttcg					rs375158389		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366349_7366351delTCC	ENST00000311403.4	-	4	2289_2291	c.1950_1952delGGA	c.(1948-1953)gaggat>gat	p.E650del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.E650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		Ttcctcctcatcctcctcctcct	0.606																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1948-1953)gat>ga		zinc finger and BTB domain containing 4			,	19,4245		2,15,2115					,	-10.2	0			53	24,8228		5,14,4107	no	coding,coding	ZBTB4	NM_020899.3,NM_001128833.1	,	7,29,6222	A1A1,A1R,RR		0.2908,0.4456,0.3436	,	,		43,12473				SO:0001651	inframe_deletion	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366349_7366351delTCC	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1950_1952delGGA	17.37:g.7366358_7366360delTCC	ENSP00000307858:p.Glu650del					ZBTB4_ENST00000380599.4_In_Frame_Del_p.ED650del	p.ED650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2289_2291	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	650			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	In_Frame_Del	DEL	ENST00000311403.4	37	c.1950_1952delGGA	CCDS11107.1																																																																																				0.606	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		7	302						7	302	---	---	---	---	-	7366351	TCC	-	7366349	7	5	79	1	0	1	0	1	0	0	0	0	17594	1435	50	0	1093	0	ZBTB4	17	7366349	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	36318	7366349	73828861	16836	27153											
ZBTB4	57659	broad.mit.edu	37	chr17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtctctgagatgcggcGcttgacgatggcctcctccc	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	616	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1846-1848)Cgc>Tgc		zinc finger and BTB domain containing 4							45	31	36					17																	7366455		2201	4300	6501	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366455G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1846C>T	17.37:g.7366455G>A	ENSP00000307858:p.Arg616Cys					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2185	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	616			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1846C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338633	0.60963	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.51817	0.69;0.69	4.87	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.64907	0.2641	M	0.69358	2.11	0.48511	D	0.999669	D	0.89917	1.0	D	0.85130	0.997	T	0.66779	-0.5837	10	0.54805	T	0.06	-14.8235	13.619	0.62126	0.0:0.0:0.8449:0.1551	.	616	Q9P1Z0	ZBTB4_HUMAN	C	616	ENSP00000307858:R616C;ENSP00000369973:R616C	ENSP00000307858:R616C	R	-	1	0	ZBTB4	7307179	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.648000	0.37271	2.533000	0.85409	0.462000	0.41574	CGC		0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		16	80	0	0	0	1	0	16	80					A	7366455	G	A	7366455	3	1	79	1	0	0	0	0	1	0	0	0	17594	1087	38	1	1199	1	ZBTB4	17	7366455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	7366455	73828755	16837	27154											
ZBTB4	57659	broad.mit.edu	37	chr17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggccgcttggctgcccGcatggggagcaggcggtaga	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	421					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1261-1263)Cgg>Tgg		zinc finger and BTB domain containing 4							82	91	88					17																	7367040		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367040G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1261C>T	17.37:g.7367040G>A	ENSP00000307858:p.Arg421Trp					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1600	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	421					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1261C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370297	0.61624	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	2.78	0.32641	.	0.169883	0.38897	N	0.001539	T	0.10551	0.0258	L	0.27053	0.805	0.39854	D	0.973289	D	0.89917	1.0	D	0.79108	0.992	T	0.11616	-1.0580	10	0.87932	D	0	-14.3833	11.3811	0.49757	0.0:0.0:0.6748:0.3252	.	421	Q9P1Z0	ZBTB4_HUMAN	W	421	ENSP00000307858:R421W;ENSP00000369973:R421W	ENSP00000307858:R421W	R	-	1	2	ZBTB4	7307764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.996000	0.40776	1.274000	0.44362	0.456000	0.33151	CGG		0.632	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		138	589	0	0	0	1	0	138	589					A	7367040	G	A	7367040	3	1	79	1	0	0	0	0	1	0	0	0	17594	1086	38	1	1784	1	ZBTB4	17	7367040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585	7367040	73828170	16838	27155											
POLR2A	5430	broad.mit.edu	37	chr17	7405894	7405894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatggtgaagtacgacgCgactgtgcggaactccatca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7405894C>T	ENST00000322644.6	+	16	3029	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	877					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTACGACGCGACTGTGCGG	0.577																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2629-2631)gCg>gTg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102	89	94					17																	7405894		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405894C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2630C>T	17.37:g.7405894C>T	ENSP00000314949:p.Ala877Val						p.A877V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			16	3029	+		Prostate(122;0.173)	877					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2630C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525135	0.44969	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67698	-0.28	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 5 (1);	0.129663	0.49916	D	0.000131	T	0.66336	0.2779	L	0.43923	1.385	0.80722	D	1	P	0.38642	0.641	B	0.41666	0.363	T	0.69072	-0.5242	10	0.87932	D	0	-8.9664	18.8608	0.92271	0.0:1.0:0.0:0.0	.	877	P24928	RPB1_HUMAN	V	833;877	ENSP00000314949:A877V	ENSP00000314949:A877V	A	+	2	0	SLC35G6	7346618	1.000000	0.71417	0.183000	0.23137	0.125000	0.20455	4.287000	0.59001	2.761000	0.94854	0.655000	0.94253	GCG		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		17	389	0	0	0	1	0	17	389					T	7405894	C	T	7405894	3	4	79	1	0	0	0	0	1	0	0	0	12256	768	27	1	2692	1	POLR2A	17	7405894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38854	7405894	73789316	16839	27156											
POLR2A	5430	broad.mit.edu	37	chr17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgagcggatgcgggaGgatcgggaggtgctcagggt	20	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	961					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGCGGGAGGATCGGGAGG	0.612																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2881-2883)gaG>gaT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							132	127	129					17																	7406566		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406566G>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2883G>T	17.37:g.7406566G>T	ENSP00000314949:p.Glu961Asp						p.E961D	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3282	+		Prostate(122;0.173)	961					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2883G>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68025	-0.3	5.25	4.27	0.50696	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.25992	0.78	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50591	-0.8810	10	0.40728	T	0.16	-15.1705	12.3295	0.55031	0.0844:0.0:0.9156:0.0	.	961	P24928	RPB1_HUMAN	D	917;961	ENSP00000314949:E961D	ENSP00000314949:E961D	E	+	3	2	SLC35G6	7347290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	1.557000	0.49525	0.655000	0.94253	GAG		0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		50	231	1	0	1.86633e-21	1	2.10207e-21	50	231					T	7406566	G	T	7406566	3	4	79	1	0	0	0	0	1	0	0	0	12256	991	35	3	2949	3	POLR2A	17	7406566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	7406566	73788644	16840	27157											
POLR2A	5430	broad.mit.edu	37	chr17	7417442	7417442	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcgcccaccagccccacCtacagtctcacaagcccggc	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1953	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAGCCCCACCTACAGTCTCA	0.662																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5857-5859)acC>acA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							80	69	72					17																	7417442		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417442C>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5859C>A	17.37:g.7417442C>A							p.T1953T	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	6258	+		Prostate(122;0.173)	1953			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5859C>A	CCDS32548.1																																																																																				0.662	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		13	262	1	0	2.27111e-07	1	2.35674e-07	13	262					A	7417442	C	A	7417442	2	1	79	1	0	0	0	0	0	0	0	1	12256	668	24	3		3	POLR2A	17	7417442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10876	7417442	73777768	16841	27158											
TNFSF12	8742	broad.mit.edu	37	chr17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaaccgccagatcgggGagtttatagtcacccgggct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293825.6	+	6	717	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF13_ENST00000338784.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000349228.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	152					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582																																						ENST00000293826.4																			0				central_nervous_system(1)|large_intestine(2)	3						c.(454-456)Gag>Aag									52	48	50					17																	7460175		2203	4300	6503	SO:0001583	missense	0				immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7460175G>A	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.454G>A	17.37:g.7460175G>A	ENSP00000293825:p.Glu152Lys					TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF12_ENST00000293825.6_Missense_Mutation_p.E152K|TNFSF12_ENST00000462811.1_3'UTR	p.E152K	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN			6	509	+		Prostate(122;0.157)	152					Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	ENST00000293825.6	37	c.454G>A	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136305	0.77662	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94687	-3.49;-3.49;-3.49	4.71	2.69	0.31865	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.688639	0.12808	N	0.437389	D	0.88089	0.6343	N	0.20685	0.6	0.28031	N	0.934134	B;B	0.21071	0.001;0.051	B;B	0.19946	0.003;0.027	T	0.79916	-0.1601	10	0.46703	T	0.11	-0.4336	7.5403	0.27733	0.0933:0.1773:0.7294:0.0	.	152;152	Q8IZK7;O43508	.;TNF12_HUMAN	K	152	ENSP00000293825:E152K;ENSP00000451451:E152K;ENSP00000293826:E152K	ENSP00000293825:E152K	E	+	1	0	TNFSF12-TNFSF13;TNFSF12	7400899	0.997000	0.39634	0.944000	0.38274	0.676000	0.39594	1.110000	0.31147	0.529000	0.28599	0.561000	0.74099	GAG		0.582	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		23	133	0	0	0	1	0	23	133					A	7460175	G	A	7460175	3	1	79	1	0	0	0	0	1	0	0	0	16355	1175	41	2	476	2	TNFSF12	17	7460175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42733	7460175	73735035	16842	27159											
TNFSF12-TNFSF13	8741	broad.mit.edu	37	chr17	7463164	7463164	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctccttctctcctcagaGcagcactctgtcctgcacct	5	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	113					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TCTCCTCAGAGCAGCACTCTG	0.562											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338784.4																			0				large_intestine(2)|lung(2)|skin(1)	5						c.e3-1		tumor necrosis factor (ligand) superfamily, member 13							128	134	132					17																	7463164		2203	4300	6503	SO:0001630	splice_region_variant	8741							g.chr17:7463164G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.338-1G>T	17.37:g.7463164G>T			OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000396545.4_Splice_Site_p.K113_splice|TNFSF12_ENST00000557233.1_Splice_Site_p.K193_splice|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193_splice|TNFSF13_ENST00000380535.4_Intron	p.K113_splice	NM_003808.3	NP_003799.1					3	782	+		Prostate(122;0.157)						A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Splice_Site	SNP	ENST00000338784.4	37	c.337_splice	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619682	0.28801	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000436057;ENST00000338784;ENST00000396545	D;D;T;D;D	0.97620	-4.46;-4.46;1.42;-3.86;-3.86	4.17	3.2	0.36748	.	0.967335	0.08562	N	0.927345	D	0.96562	0.8878	L	0.60455	1.87	0.80722	D	1	P;P;D	0.57257	0.501;0.634;0.979	B;B;P	0.54759	0.261;0.167;0.76	D	0.91970	0.5586	10	0.18276	T	0.48	.	8.0311	0.30465	0.1132:0.0:0.8868:0.0	.	113;113;193	O75888;O75888-3;Q8IZK7	TNF13_HUMAN;.;.	N	193;193;96;113;113	ENSP00000451451:K193N;ENSP00000293826:K193N;ENSP00000410094:K96N;ENSP00000343505:K113N;ENSP00000379794:K113N	ENSP00000293826:K193N	K	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7403888	0.963000	0.33076	0.981000	0.43875	0.104000	0.19210	1.446000	0.35090	1.102000	0.41551	0.462000	0.41574	AAG		0.562	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808	Missense_Mutation	14	462	1	0	1.05317e-09	1	1.11087e-09	14	462					T	7463164	G	T	7463164	5	4	79	1	0	0	0	0	0	0	1	0	16356	985	34	3	609	3	TNFSF12-TNFSF13	17	7463164	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2989	7463164	73732046	16843	27160											
TNFSF12-TNFSF13	8741	broad.mit.edu	37	chr17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtgggagaggcctacaGgcccaaggatatggtgtccg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000338784.4	+	4	890	c.447G>T	c.(445-447)caG>caT	p.Q149H	SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000349228.4_Missense_Mutation_p.Q133H	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	149					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GAGGCCTACAGGCCCAAGGAT	0.552											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349228.4																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(397-399)caG>caT		tumor necrosis factor (ligand) superfamily, member 13							119	114	116					17																	7463427		2203	4300	6503	SO:0001583	missense	8741							g.chr17:7463427G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.447G>T	17.37:g.7463427G>T	ENSP00000343505:p.Gln149His		OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF13_ENST00000338784.4_Missense_Mutation_p.Q149H	p.Q133H	NM_172087.2	NP_742084.1					3	963	+		Prostate(122;0.157)						A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	37	c.399G>T	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761740	0.31228	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.94758	-3.51;-3.51;-3.51;1.42;1.4;-3.51;-3.51;-3.51;-3.51	5.15	2.77	0.32553	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.313785	0.36167	N	0.002755	D	0.93096	0.7802	L	0.39898	1.24	0.31543	N	0.659642	P;P;P;P;P;P	0.51147	0.808;0.808;0.606;0.808;0.883;0.942	P;P;P;P;P;P	0.54312	0.567;0.567;0.526;0.748;0.632;0.692	D	0.91391	0.5135	10	0.40728	T	0.16	-9.5232	10.0629	0.42286	0.1955:0.0:0.8045:0.0	.	121;122;133;149;149;229	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	H	229;229;104;116;132;133;149;121;149	ENSP00000451451:Q229H;ENSP00000293826:Q229H;ENSP00000379792:Q104H;ENSP00000390771:Q116H;ENSP00000410094:Q132H;ENSP00000314455:Q133H;ENSP00000343505:Q149H;ENSP00000369908:Q121H;ENSP00000379794:Q149H	ENSP00000293826:Q229H	Q	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404151	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.762000	0.38451	1.163000	0.42636	-0.291000	0.09656	CAG		0.552	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		20	607	1	0	2.37509e-13	1	2.56396e-13	20	607					T	7463427	G	T	7463427	3	4	79	1	0	0	0	0	1	0	0	0	16356	991	35	3	721	3	TNFSF12-TNFSF13	17	7463427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	7463427	73731783	16844	27161											
SENP3	26168	broad.mit.edu	37	chr17	7468084	7468084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaggagctttttcaGggctcagatttgggcatggc	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7468084G>T	ENST00000429205.2	+	3	907	c.858G>T	c.(856-858)caG>caT	p.Q286H	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Missense_Mutation_p.Q286H|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	286						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCTTTTTCAGGGCTCAGATT	0.617																																						ENST00000321337.7																			0				central_nervous_system(1)|ovary(1)	2						c.(856-858)caG>caT		SUMO1/sentrin/SMT3 specific peptidase 3							42	47	46					17																	7468084		1971	4165	6136	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7468084G>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.858G>T	17.37:g.7468084G>T	ENSP00000403712:p.Gln286His					SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.Q286H	p.Q286H	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN			3	1178	+		Prostate(122;0.157)	286					Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.858G>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.319953	0.41096	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.36520	1.25;1.25	5.98	2.42	0.29668	.	0.117651	0.38778	N	0.001579	T	0.19287	0.0463	N	0.14661	0.345	0.27963	N	0.936695	B	0.27732	0.187	B	0.30855	0.121	T	0.11717	-1.0576	10	0.33940	T	0.23	-4.314	6.2244	0.20700	0.1757:0.0:0.6714:0.1528	.	286	Q9H4L4	SENP3_HUMAN	H	286	ENSP00000314029:Q286H;ENSP00000403712:Q286H	ENSP00000314029:Q286H	Q	+	3	2	SENP3	7408808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.579000	0.23788	0.840000	0.34995	0.591000	0.81541	CAG		0.617	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		9	273	1	0	5.4927e-09	1	5.7613e-09	9	273					T	7468084	G	T	7468084	3	4	79	1	0	0	0	0	1	0	0	0	14098	991	35	3	864	3	SENP3	17	7468084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4657	7468084	73727126	16845	27162											
FXR2	9513	broad.mit.edu	37	chr17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatgaagaattgtatctcGaagtgggccggggggcaggt	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						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)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1498-1500)tCg>tTg		fragile X mental retardation, autosomal homolog 2							32	35	34					17																	7496331		1834	4076	5910	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496331G>A	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.1499C>T	17.37:g.7496331G>A	ENSP00000250113:p.Ser500Leu						p.S500L	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1833	-			500					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1499C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	FXR2	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG		0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			51	295	0	0	0	1	0	51	295					A	7496331	G	A	7496331	3	1	79	1	0	0	0	0	1	0	0	0	6143	1059	37	1	442	1	FXR2	17	7496331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28247	7496331	73698879	16846	27163											
FXR2	9513	broad.mit.edu	37	chr17	7497589	7497589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgtcattatcaccTtccactcgaaccctcaccac	2	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	329						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)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(985-987)gaA>gaG		fragile X mental retardation, autosomal homolog 2							121	113	115					17																	7497589		1904	4114	6018	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7497589T>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.987A>G	17.37:g.7497589T>C							p.E329E	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	10	1321	-			329					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.987A>G	CCDS45604.1																																																																																				0.478	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			43	162	0	0	0	1	0	43	162					C	7497589	T	C	7497589	2	2	79	1	0	0	0	0	0	0	0	1	6143	1606	56	4		4	FXR2	17	7497589	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1258	7497589	73697621	16847	27164											
SAT2	112483	broad.mit.edu	37	chr17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtcttcacccgaatcaGcctcaggatatctccacagt	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000441599.2_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572262.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000380450.4_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	20	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677																																						ENST00000269298.5																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	kidney(1)|large_intestine(2)	3						c.(58-60)Ctg>Atg		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						56	50	52					17																	7530896		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7530896G>T	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 2"	611463	"spermidine/spermine N1-acetyltransferase 2"			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.58C>A	17.37:g.7530896G>T	ENSP00000269298:p.Leu20Met					SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'UTR	p.L20M	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	1	277	-			20			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.58C>A	CCDS11116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915223|0.915223	0.17907|0.17907	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|T	.|0.57436	.|0.4	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	.|GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.585199|.	0.13069|.	N|.	0.416296|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.04454|0.04454	-1.0950|-1.0950	7|9	0.16896|0.24483	T|T	0.51|0.36	-44.0846|-44.0846	6.3391|6.3391	0.21312|0.21312	0.0939:0.0:0.3584:0.5477|0.0939:0.0:0.3584:0.5477	.|.	.|20	.|Q96F10	.|SAT2_HUMAN	D|M	93|20	.|ENSP00000269298:L20M	ENSP00000369833:A93D|ENSP00000269298:L20M	A|L	-|-	2|1	0|2	SAT2|SAT2	7471621|7471621	0.884000|0.884000	0.30299|0.30299	0.998000|0.998000	0.56505|0.56505	0.811000|0.811000	0.45836|0.45836	-0.159000|-0.159000	0.10056|0.10056	0.200000|0.200000	0.20447|0.20447	-0.126000|-0.126000	0.14955|0.14955	GCT|CTG		0.677	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		51	247	1	0	4.86159e-25	1	5.57236e-25	51	247					T	7530896	G	T	7530896	3	4	79	1	0	0	0	0	1	0	0	0	13902	962	34	3	478	3	SAT2	17	7530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33307	7530896	73664314	16848	27165											
DNAH2	146754	broad.mit.edu	37	chr17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaaggtcccttctgattCtctttgcggaaattgactac	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	RPL29P2_ENST00000498671.1_RNA|DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCTGATTCTCTTTGCGGA	0.567																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1918-1920)Ctc>Ttc		dynein, axonemal, heavy chain 2							195	191	192					17																	7660422		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7660422C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1918C>T	17.37:g.7660422C>T	ENSP00000458355:p.Leu640Phe					DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F	p.L640F			Q9P225	DYH2_HUMAN			13	3378	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	640			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1918C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716165	0.48622	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65364	-0.15	4.96	4.96	0.65561	Dynein heavy chain, domain-1 (1);	0.163839	0.41097	D	0.000952	T	0.77103	0.4081	M	0.85710	2.77	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.79327	-0.1849	10	0.72032	D	0.01	.	6.3087	0.21153	0.1845:0.7244:0.0:0.0911	.	640	Q9P225	DYH2_HUMAN	F	640	ENSP00000373825:L640F	ENSP00000353818:L640F	L	+	1	0	DNAH2	7601147	0.879000	0.30193	1.000000	0.80357	0.519000	0.34347	1.072000	0.30678	2.578000	0.87016	0.491000	0.48974	CTC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		315	1289	0	0	0	1	0	315	1289					T	7660422	C	T	7660422	3	4	79	1	0	0	0	0	1	0	0	0	4618	913	32	2	1964	2	DNAH2	17	7660422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129526	7660422	73534788	16849	27166											
DNAH2	146754	broad.mit.edu	37	chr17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcactgcaatgaatggCagaacaagttcgcgactctg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1032	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAATGAATGGCAGAACAAGTT	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3094-3096)Cag>Tag		dynein, axonemal, heavy chain 2							97	86	90					17																	7667264		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667264C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3094C>T	17.37:g.7667264C>T	ENSP00000458355:p.Gln1032*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*	p.Q1032*			Q9P225	DYH2_HUMAN			19	4554	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1032			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.3094C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.586910	0.99213	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8308	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000353818:Q1032X	Q	+	1	0	DNAH2	7607989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.871000	0.75531	2.251000	0.74343	0.555000	0.69702	CAG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		70	273	0	0	0	1	0	70	273					T	7667264	C	T	7667264	4	4	79	1	0	0	0	0	0	1	0	0	4618	711	25	2	3164	2	DNAH2	17	7667264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	7667264	73527946	16850	27167											
DNAH2	146754	broad.mit.edu	37	chr17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgccggagaccctaActtcaacattgttagagtac	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2111	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAGACCCTAACTTCAACATT	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6331-6333)aAc>aCc		dynein, axonemal, heavy chain 2							38	37	37					17																	7689644		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7689644A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6332A>C	17.37:g.7689644A>C	ENSP00000458355:p.Asn2111Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T	p.N2111T			Q9P225	DYH2_HUMAN			40	7792	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2111			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6332A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255034	0.39896	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.43	4.35	0.52113	ATPase, dynein-related, AAA domain (1);	0.283115	0.39834	N	0.001242	T	0.30355	0.0762	L	0.42632	1.34	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.07616	-1.0763	10	0.14252	T	0.57	.	6.8105	0.23802	0.7675:0.1527:0.0798:0.0	.	2111	Q9P225	DYH2_HUMAN	T	2111	ENSP00000373825:N2111T	ENSP00000353818:N2111T	N	+	2	0	DNAH2	7630369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.029000	0.41098	1.086000	0.41228	0.528000	0.53228	AAC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		16	177	0	0	0	1	0	16	177					C	7689644	A	C	7689644	3	2	79	1	0	0	0	0	1	0	0	0	4618	43	2	4	6486	4	DNAH2	17	7689644	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22380	7689644	73505566	16851	27168											
DNAH2	146754	broad.mit.edu	37	chr17	7691221	7691221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctggcaatggcctctcCggccactgtatcccgctgcg	12	16	1	0	rs142583624	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691221C>T	ENST00000572933.1	+	43	8107	c.6647C>T	c.(6646-6648)cCg>cTg	p.P2216L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2216	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCCTCTCCGGCCACTGTA	0.532													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		17109	0.0		0.0	False		,,,				2504	0.0					ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6646-6648)cCg>cTg		dynein, axonemal, heavy chain 2		C	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	69	67	68		6647	5.1	1	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DNAH2	NM_020877.2	98	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	2216/4428	7691221	7,12999	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691221C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6647C>T	17.37:g.7691221C>T	ENSP00000458355:p.Pro2216Leu					DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L	p.P2216L			Q9P225	DYH2_HUMAN			43	8107	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2216			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6647C>T	CCDS32551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.264746	0.80358	0.001589	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.98901	-5.22	5.07	5.07	0.68467	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99379	1.0922	10	0.87932	D	0	.	17.3715	0.87379	0.0:1.0:0.0:0.0	.	2216	Q9P225	DYH2_HUMAN	L	2216	ENSP00000373825:P2216L	ENSP00000353818:P2216L	P	+	2	0	DNAH2	7631946	1.000000	0.71417	0.988000	0.46212	0.358000	0.29455	7.181000	0.77682	2.631000	0.89168	0.561000	0.74099	CCG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		29	316	0	0	0	1	0	29	316					T	7691221	C	T	7691221	3	4	79	1	0	0	0	0	1	0	0	0	4618	652	23	1	6813	1	DNAH2	17	7691221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1577	7691221	73503989	16852	27169											
DNAH2	146754	broad.mit.edu	37	chr17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggatggtctacactgaCtacgctgacctgggctggaa	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2228	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTACACTGACTACGCTGACC	0.547																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6682-6684)gaC>gaA		dynein, axonemal, heavy chain 2							77	73	74					17																	7691258		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691258C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6684C>A	17.37:g.7691258C>A	ENSP00000458355:p.Asp2228Glu					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E	p.D2228E			Q9P225	DYH2_HUMAN			43	8144	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2228			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6684C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531386	0.64972	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87729	-2.29	5.07	0.635	0.17723	.	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80266	-0.1454	10	0.10636	T	0.68	.	3.5746	0.07930	0.0:0.3903:0.1908:0.4189	.	2228	Q9P225	DYH2_HUMAN	E	2228	ENSP00000373825:D2228E	ENSP00000353818:D2228E	D	+	3	2	DNAH2	7631983	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	1.168000	0.31859	0.323000	0.23307	0.561000	0.74099	GAC		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		41	282	1	0	1.04594e-18	1	1.16214e-18	41	282					A	7691258	C	A	7691258	3	1	79	1	0	0	0	0	1	0	0	0	4618	564	20	3	6850	3	DNAH2	17	7691258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	7691258	73503952	16853	27170											
DNAH2	146754	broad.mit.edu	37	chr17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatcaatcagaagcttcaGgactttgaggaagaggtgaa	12	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2575	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCTTCAGGACTTTGAGG	0.562																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7723-7725)caG>caT		dynein, axonemal, heavy chain 2							121	100	107					17																	7699832		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7699832G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7725G>T	17.37:g.7699832G>T	ENSP00000458355:p.Gln2575His					DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H	p.Q2575H			Q9P225	DYH2_HUMAN			50	9185	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2575			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7725G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832290	0.50845	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.4	4.43	0.53597	.	0.131736	0.52532	D	0.000076	T	0.42268	0.1195	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.37709	-0.9694	10	0.51188	T	0.08	.	13.2661	0.60135	0.0773:0.0:0.9227:0.0	.	2575	Q9P225	DYH2_HUMAN	H	2575	ENSP00000373825:Q2575H	ENSP00000353818:Q2575H	Q	+	3	2	DNAH2	7640557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.487000	0.60293	1.508000	0.48769	0.609000	0.83330	CAG		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		61	238	1	0	1.69475e-38	1	2.04315e-38	61	238					T	7699832	G	T	7699832	3	4	79	1	0	0	0	0	1	0	0	0	4618	991	35	3	7919	3	DNAH2	17	7699832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	7699832	73495378	16854	27171											
DNAH2	146754	broad.mit.edu	37	chr17	7702026	7702026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatctctacaagcctgatgAatttgaagaggtaggattcc	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7702026A>G	ENST00000572933.1	+	55	10009	c.8549A>G	c.(8548-8550)gAa>gGa	p.E2850G	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2850	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGCCTGATGAATTTGAAGAG	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8548-8550)gAa>gGa		dynein, axonemal, heavy chain 2							108	104	105					17																	7702026		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702026A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8549A>G	17.37:g.7702026A>G	ENSP00000458355:p.Glu2850Gly					DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G	p.E2850G			Q9P225	DYH2_HUMAN			55	10009	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2850			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8549A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715086	0.89112	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.66	5.66	0.87406	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87871	0.2671	10	0.87932	D	0	.	14.8707	0.70456	1.0:0.0:0.0:0.0	.	2850	Q9P225	DYH2_HUMAN	G	2850	ENSP00000373825:E2850G	ENSP00000353818:E2850G	E	+	2	0	DNAH2	7642751	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.518000	0.90559	2.166000	0.68216	0.454000	0.30748	GAA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		12	412	0	0	0	1	0	12	412					G	7702026	A	G	7702026	3	3	79	1	0	0	0	0	1	0	0	0	4618	246	9	4	8763	4	DNAH2	17	7702026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2194	7702026	73493184	16855	27172											
DNAH2	146754	broad.mit.edu	37	chr17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggacccgggacttgGccatgcgtgtggagcagttt	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4258					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGGGACTTGGCCATGCGTGT	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12772-12774)Gcc>Acc		dynein, axonemal, heavy chain 2							97	103	101					17																	7735942		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7735942G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12772G>A	17.37:g.7735942G>A	ENSP00000458355:p.Ala4258Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T	p.A4258T			Q9P225	DYH2_HUMAN			83	14232	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4258					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12772G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697938	0.30142	.	.	ENSG00000183914	ENST00000389173	T	0.08458	3.09	5.41	5.41	0.78517	Dynein heavy chain (1);	0.376486	0.26586	N	0.023552	T	0.07503	0.0189	N	0.16098	0.37	0.80722	D	1	B	0.18310	0.027	B	0.22152	0.038	T	0.34054	-0.9844	10	0.49607	T	0.09	.	17.9726	0.89118	0.0:0.0:1.0:0.0	.	4258	Q9P225	DYH2_HUMAN	T	4258	ENSP00000373825:A4258T	ENSP00000373825:A4258T	A	+	1	0	DNAH2	7676667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.988000	0.49386	2.546000	0.85860	0.591000	0.81541	GCC		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		181	790	0	0	0	1	0	181	790					A	7735942	G	A	7735942	3	1	79	1	0	0	0	0	1	0	0	0	4618	1203	42	2	13098	2	DNAH2	17	7735942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33916	7735942	73459268	16856	27173											
KDM6B	23135	broad.mit.edu	37	chr17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggggccctcggcacacaGcagtcggaaaccgttcttgg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000448097.2	+	11	1662	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000254846.5_Missense_Mutation_p.S444I			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	444	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGGCACACAGCAGTCGGAAA	0.657																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1330-1332)aGc>aTc		lysine (K)-specific demethylase 6B							23	25	24					17																	7750937		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750937G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1331G>T	17.37:g.7750937G>T	ENSP00000412513:p.Ser444Ile					KDM6B_ENST00000448097.2_Missense_Mutation_p.S444I	p.S444I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	1720	+			444			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1331G>T		.	.	.	.	.	.	.	.	.	.	G	11.14	1.549796	0.27652	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.09163	3.01;3.01	4.19	3.23	0.37069	.	0.355288	0.27185	N	0.020531	T	0.07548	0.0190	N	0.14661	0.345	0.26903	N	0.967064	B	0.28880	0.226	B	0.34138	0.176	T	0.25117	-1.0141	10	0.52906	T	0.07	-4.2785	9.4896	0.38951	0.1015:0.0:0.8985:0.0	.	444	O15054-1	.	I	444	ENSP00000254846:S444I;ENSP00000412513:S444I	ENSP00000254846:S444I	S	+	2	0	KDM6B	7691662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.180000	0.42537	1.129000	0.42072	0.561000	0.74099	AGC		0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		36	138	1	0	7.04047e-22	1	7.94894e-22	36	138					T	7750937	G	T	7750937	3	4	79	1	0	0	0	0	1	0	0	0	8168	971	34	3	1361	3	KDM6B	17	7750937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14995	7750937	73444273	16857	27174											
KDM6B	23135	broad.mit.edu	37	chr17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagcctgtgccgcccGgggttggggagctgcctgcc	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000448097.2	+	11	2306	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000254846.5_Missense_Mutation_p.G659R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	659	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGTGCCGCCCGGGGTTGGGGA	0.687																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1975-1977)Ggg>Agg		lysine (K)-specific demethylase 6B							25	32	30					17																	7751581		2072	4103	6175	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751581G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1975G>A	17.37:g.7751581G>A	ENSP00000412513:p.Gly659Arg					KDM6B_ENST00000448097.2_Missense_Mutation_p.G659R	p.G659R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2364	+			659			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1975G>A		.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538130	0.04082	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.07216	3.21;3.21	4.52	-3.84	0.04256	.	1.227230	0.05789	N	0.609988	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.28530	T	0.3	0.4754	11.6493	0.51279	0.3807:0.0:0.6193:0.0	.	659	O15054-1	.	R	659	ENSP00000254846:G659R;ENSP00000412513:G659R	ENSP00000254846:G659R	G	+	1	0	KDM6B	7692306	0.003000	0.15002	0.056000	0.19401	0.038000	0.13279	-0.068000	0.11561	-0.664000	0.05324	-2.436000	0.00213	GGG		0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		97	390	0	0	0	1	0	97	390					A	7751581	G	A	7751581	3	1	79	1	0	0	0	0	1	0	0	0	8168	1116	39	1	2005	1	KDM6B	17	7751581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	644	7751581	73443629	16858	27175											
KDM6B	23135	broad.mit.edu	37	chr17	7751765	7751765	+	Frame_Shift_Del	DEL	C	C	-													acaacacgaagcaggcgtggCcccccaacccccgctgaagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751765delC	ENST00000448097.2	+	11	2490	c.2159delC	c.(2158-2160)gccfs	p.A720fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.A720fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	720	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGCGTGGCCCCCCAACCC	0.582																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2158-2160)gcfs		lysine (K)-specific demethylase 6B							81	95	90					17																	7751765		2203	4300	6503	SO:0001589	frameshift_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751765delC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2159delC	17.37:g.7751765delC	ENSP00000412513:p.Ala720fs					KDM6B_ENST00000448097.2_Frame_Shift_Del_p.A720fs	p.A720fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2548	+			720			Pro-rich.		C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	37	c.2159delC																																																																																					0.582	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		13	908						13	908	---	---	---	---	-	7751765	C	-	7751765	7	5	79	1	0	1	0	1	0	0	0	0	8168	739	26	0	2189	0	KDM6B	17	7751765	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	184	7751765	73443445	16859	27176											
KDM6B	23135	broad.mit.edu	37	chr17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgtgagaagtcccggcccGatcttggcggggcctccaag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000448097.2	+	11	3440	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000254846.5_Missense_Mutation_p.D1037N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1037					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTCCCGGCCCGATCTTGGCGG	0.662																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3109-3111)Gat>Aat		lysine (K)-specific demethylase 6B							14	13	13					17																	7752715		2180	4266	6446	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752715G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3109G>A	17.37:g.7752715G>A	ENSP00000412513:p.Asp1037Asn					KDM6B_ENST00000448097.2_Missense_Mutation_p.D1037N	p.D1037N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3498	+			1037					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3109G>A		.	.	.	.	.	.	.	.	.	.	G	6.299	0.423180	0.11928	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32753	1.44;1.44	3.67	3.67	0.42095	.	0.510853	0.15246	N	0.272627	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.041	B;B	0.18561	0.007;0.022	T	0.11012	-1.0605	10	0.30854	T	0.27	-1.9598	13.2917	0.60274	0.0:0.0:1.0:0.0	.	1037;1037	O15054;O15054-1	KDM6B_HUMAN;.	N	1037	ENSP00000254846:D1037N;ENSP00000412513:D1037N	ENSP00000254846:D1037N	D	+	1	0	KDM6B	7693440	0.757000	0.28394	0.032000	0.17829	0.529000	0.34654	3.116000	0.50399	2.074000	0.62210	0.462000	0.41574	GAT		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	94	0	0	0	1	0	7	94					A	7752715	G	A	7752715	3	1	79	1	0	0	0	0	1	0	0	0	8168	1058	37	1	3139	1	KDM6B	17	7752715	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	950	7752715	73442495	16860	27177											
KDM6B	23135	broad.mit.edu	37	chr17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaccattgccaagtacGcacagtaccaggcctcatcc	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000448097.2	+	14	4172	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000254846.5_Missense_Mutation_p.A1281T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1281					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3841-3843)Gca>Aca		lysine (K)-specific demethylase 6B							125	105	112					17																	7754506		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7754506G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3841G>A	17.37:g.7754506G>A	ENSP00000412513:p.Ala1281Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.A1281T	p.A1281T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			14	4230	+			1281					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3841G>A		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928187	0.73327	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79845	-1.31;-1.31	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	D	0.92249	0.5807	10	0.87932	D	0	-8.676	17.333	0.87271	0.0:0.0:1.0:0.0	.	1281;1281	O15054;O15054-1	KDM6B_HUMAN;.	T	1281	ENSP00000254846:A1281T;ENSP00000412513:A1281T	ENSP00000254846:A1281T	A	+	1	0	KDM6B	7695231	1.000000	0.71417	0.936000	0.37596	0.871000	0.50021	6.254000	0.72460	2.718000	0.92993	0.650000	0.86243	GCA		0.617	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		31	409	0	0	0	1	0	31	409					A	7754506	G	A	7754506	3	1	79	1	0	0	0	0	1	0	0	0	8168	1087	38	1	3883	1	KDM6B	17	7754506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1791	7754506	73440704	16861	27178											
LSMD1	84316	broad.mit.edu	37	chr17	7760629	7760629	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccagaggctgccgggaGctgcagttccccaccccctc	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7760629G>A	ENST00000335155.5	-	1	81				LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_Intron|CYB5D1_ENST00000570446.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000333775.5_Missense_Mutation_p.A38V|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000575208.1_Intron			Q9BRA0	LSMD1_HUMAN							negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCCGGGAGCTGCAGTTCC	0.682																																					GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(112-114)gCt>gTt		LSM domain containing 1							17	23	21					17																	7760629		2193	4285	6478	SO:0001627	intron_variant	84316					cytoplasm|nucleus		g.chr17:7760629G>A																												ENST00000335155.5:c.81+71C>T	17.37:g.7760629G>A						LSMD1_ENST00000335155.5_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576861.1_Intron	p.A38V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	543	-		all_cancers(10;0.11)|Prostate(122;0.219)	0					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	G	19.16	3.773995	0.69992	.	.	ENSG00000183011	ENST00000333775	T	0.52754	0.65	5.58	4.61	0.57282	.	0.561410	0.16748	N	0.201145	T	0.32675	0.0837	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.08146	-1.0736	8	.	.	.	.	9.5983	0.39587	0.0985:0.0:0.9015:0.0	.	38	Q9BRA0-2	.	V	38	ENSP00000332103:A38V	.	A	-	2	0	LSMD1	7701354	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.681000	0.25320	1.337000	0.45525	0.561000	0.74099	GCT		0.682	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				48	268	0	0	0	1	0	48	268					A	7760629	G	A	7760629	1	1	79	0	1	0	0	0	0	0	0	0	9100	971	34	2		2	LSMD1	17	7760629	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6123	7760629	73434581	16862	27179											
CHD3	1107	broad.mit.edu	37	chr17	7794054	7794055	+	Frame_Shift_Ins	INS	-	-	A													gggggagggagatggggggcINSaaaaggtgagtagaattagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7794054_7794055insA	ENST00000330494.7	+	3	529_530	c.379_380insA	c.(379-381)caafs	p.Q127fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Q186fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Q127fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	127					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGGGGGGCAAAAGGTGAGT	0.51																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(556-558)aaafs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7794054_7794055insA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.383dupA	17.37:g.7794058_7794058dupA	ENSP00000332628:p.Gln127fs					CHD3_ENST00000330494.7_Frame_Shift_Ins_p.K127fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.K127fs	p.K186fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			3	557_558	+		Prostate(122;0.202)	127					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.556_557insA	CCDS32554.1																																																																																				0.51	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		22	86						22	86	---	---	---	---	A	7794055	-	A	7794054	7	5	79	1	0	1	1	0	0	0	0	0	3335	711	25	0	670	0	CHD3	17	7794054	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	33425	7794054	73401156	16863	27180											
CHD3	1107	broad.mit.edu	37	chr17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagcgtaaagtgaaagaccCgcactatgctgagatggagg	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000330494.7	+	11	1985	c.1835C>A	c.(1834-1836)cCg>cAg	p.P612Q	CHD3_ENST00000380358.4_Missense_Mutation_p.P671Q|CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGAAAGACCCGCACTATGCT	0.547																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2011-2013)cCg>cAg		chromodomain helicase DNA binding protein 3							157	124	135					17																	7800528		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7800528C>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1835C>A	17.37:g.7800528C>A	ENSP00000332628:p.Pro612Gln					CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q|CHD3_ENST00000330494.7_Missense_Mutation_p.P612Q	p.P671Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			11	2013	+		Prostate(122;0.202)	612			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2012C>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750561	0.69533	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000418	T	0.79975	0.4539	L	0.49126	1.545	0.80722	D	1	D;D;D	0.63046	0.989;0.98;0.992	P;P;P	0.62740	0.906;0.808;0.862	T	0.76594	-0.2902	10	0.34782	T	0.22	-17.69	19.7619	0.96323	0.0:1.0:0.0:0.0	.	612;612;671	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	671;612;612	ENSP00000369716:P671Q;ENSP00000350907:P612Q;ENSP00000332628:P612Q	ENSP00000332628:P612Q	P	+	2	0	CHD3	7741253	1.000000	0.71417	0.349000	0.25694	0.807000	0.45602	7.757000	0.85209	2.681000	0.91329	0.561000	0.74099	CCG		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		83	365	1	0	3.30373e-36	1	3.95205e-36	83	365					A	7800528	C	A	7800528	3	1	79	1	0	0	0	0	1	0	0	0	3335	652	23	3	2158	3	CHD3	17	7800528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6474	7800528	73394682	16864	27181											
CHD3	1107	broad.mit.edu	37	chr17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggtagatgaggcccatcGactcaagaacaaccagtcca	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000330494.7	+	16	2810	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	CHD3_ENST00000380358.4_Missense_Mutation_p.R946Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	887	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGCCCATCGACTCAAGAAC	0.468																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2836-2838)cGa>cAa		chromodomain helicase DNA binding protein 3							99	84	89					17																	7803329		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803329G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2660G>A	17.37:g.7803329G>A	ENSP00000332628:p.Arg887Gln					CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q|CHD3_ENST00000330494.7_Missense_Mutation_p.R887Q	p.R946Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			16	2838	+		Prostate(122;0.202)	887					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2837G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092861	0.76756	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93307	-3.2;-3.2;-3.2	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.40144	N	0.001170	D	0.94814	0.8325	L	0.42581	1.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60949	0.811;0.881;0.881	D	0.95076	0.8209	10	0.87932	D	0	-14.6293	19.3554	0.94410	0.0:0.0:1.0:0.0	.	887;887;946	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	946;887;887	ENSP00000369716:R946Q;ENSP00000350907:R887Q;ENSP00000332628:R887Q	ENSP00000332628:R887Q	R	+	2	0	CHD3	7744054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.813000	0.96785	0.561000	0.74099	CGA		0.468	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		24	138	0	0	0	1	0	24	138					A	7803329	G	A	7803329	3	1	79	1	0	0	0	0	1	0	0	0	3335	1058	37	1	3003	1	CHD3	17	7803329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2801	7803329	73391881	16865	27182											
CHD3	1107	broad.mit.edu	37	chr17	7806616	7806616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgggctcatcggattggCcaggccaacaaagtgatgat	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000330494.7	+	23	3672	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	CHD3_ENST00000380358.4_Silent_p.G1233G|CHD3_ENST00000358181.4_Silent_p.G1174G|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1174	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCGGATTGGCCAGGCCAACA	0.582																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3697-3699)ggC>ggT		chromodomain helicase DNA binding protein 3							61	63	63					17																	7806616		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806616C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3522C>T	17.37:g.7806616C>T						CHD3_ENST00000358181.4_Silent_p.G1174G|CHD3_ENST00000330494.7_Silent_p.G1174G	p.G1233G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			23	3700	+		Prostate(122;0.202)	1174					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3699C>T	CCDS32554.1																																																																																				0.582	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		89	311	0	0	0	1	0	89	311					T	7806616	C	T	7806616	2	4	79	1	0	0	0	0	0	0	0	1	3335	726	26	2		2	CHD3	17	7806616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3287	7806616	73388594	16866	27183											
CHD3	1107	broad.mit.edu	37	chr17	7810694	7810694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccagcccagccccAtcacttggggagcggctgga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000330494.7	+	32	4962	c.4812A>G	c.(4810-4812)ccA>ccG	p.P1604P	CHD3_ENST00000380358.4_Silent_p.P1663P|CHD3_ENST00000358181.4_Silent_p.P1604P|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1604	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCATCACTTGGGG	0.647																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4987-4989)ccA>ccG		chromodomain helicase DNA binding protein 3							37	40	39					17																	7810694		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7810694A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4812A>G	17.37:g.7810694A>G						CHD3_ENST00000358181.4_Silent_p.P1604P|CHD3_ENST00000330494.7_Silent_p.P1604P	p.P1663P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			32	4990	+		Prostate(122;0.202)	1604			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4989A>G	CCDS32554.1																																																																																				0.647	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		40	174	0	0	0	1	0	40	174					G	7810694	A	G	7810694	2	3	79	1	0	0	0	0	0	0	0	1	3335	204	8	4		4	CHD3	17	7810694	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4078	7810694	73384516	16867	27184											
CHD3	1107	broad.mit.edu	37	chr17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacggtccaatgggcgaCgagaggaaaagacagagaag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000330494.7	+	34	5242	c.5092C>T	c.(5092-5094)Cga>Tga	p.R1698*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1757*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1698	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATGGGCGACGAGAGGAAAA	0.557																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5269-5271)Cga>Tga		chromodomain helicase DNA binding protein 3							114	107	110					17																	7811277		2203	4300	6503	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811277C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5092C>T	17.37:g.7811277C>T	ENSP00000332628:p.Arg1698*					CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000330494.7_Nonsense_Mutation_p.R1698*	p.R1757*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			34	5270	+		Prostate(122;0.202)	1698			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.5269C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	45	11.358056	0.99551	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	.	.	.	4.83	4.83	0.62350	.	0.000000	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2051	11.0777	0.48040	0.3173:0.6827:0.0:0.0	.	.	.	.	X	1757;1664;1698;26	.	ENSP00000332628:R1698X	R	+	1	2	CHD3	7752002	0.142000	0.22610	0.996000	0.52242	0.980000	0.70556	0.737000	0.26144	2.509000	0.84616	0.561000	0.74099	CGA		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		83	428	0	0	0	1	0	83	428					T	7811277	C	T	7811277	4	4	79	1	0	0	0	0	0	1	0	0	3335	528	19	1	5507	1	CHD3	17	7811277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	583	7811277	73383933	16868	27185											
CHD3	1107	broad.mit.edu	37	chr17	7814233	7814233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcgccgcacccgtaggGgccctggccgccgcaggcgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000330494.7	+	39	5973	c.5823G>A	c.(5821-5823)ggG>ggA	p.G1941G	CHD3_ENST00000380358.4_Silent_p.G2000G|AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Silent_p.G1907G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1941	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCGTAGGGGCCCTGGCCG	0.642																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5998-6000)ggG>ggA		chromodomain helicase DNA binding protein 3							59	68	65					17																	7814233		2202	4298	6500	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7814233G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5823G>A	17.37:g.7814233G>A						CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000330494.7_Silent_p.G1941G	p.G2000G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			39	6001	+		Prostate(122;0.202)	1941					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.6000G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.032915	0.54790	.	.	ENSG00000170004	ENST00000439235;ENST00000449744	.	.	.	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000514	T	0.73916	0.3648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75263	-0.3379	6	0.56958	D	0.05	-28.7992	14.888	0.70584	0.0:0.0:0.8478:0.1522	.	.	.	.	S	285;179	.	ENSP00000395252:G285S	G	+	1	0	CHD3	7754958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.149000	0.31626	2.745000	0.94114	0.604000	0.83254	GGC		0.642	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		70	1016	0	0	0	1	0	70	1016					A	7814233	G	A	7814233	2	1	79	1	0	0	0	0	0	0	0	1	3335	1219	43	2		2	CHD3	17	7814233	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2956	7814233	73380977	16869	27186											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834371	7834371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctcggatgggtcccacGcccaagtcagtattcatgac	9	13	3	1	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	CNTROB_ENST00000563694.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000565740.1_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.G89G|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000380255.3_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	89					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGTCCCACGCCCAAGTCAG	0.562																																						ENST00000303731.4																			0				breast(1)|lung(2)	3						c.(265-267)ggC>ggT		trafficking protein particle complex 1		G	,	3,4403	6.2+/-15.9	0,3,2200	103	91	95		267,267	-0.8	1	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC1	NM_001166621.1,NM_021210.4	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	89/146,89/146	7834371	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	58485				ER to Golgi vesicle-mediated transport	endoplasmic reticulum		g.chr17:7834371G>A	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"Trafficking protein particle complex"	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.267C>T	17.37:g.7834371G>A						TRAPPC1_ENST00000540486.1_Silent_p.G89G	p.G89G	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN			3	382	-		Prostate(122;0.173)	89					D3DTR0	Silent	SNP	ENST00000303731.4	37	c.267C>T	CCDS11125.1																																																																																				0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		12	329	0	0	0	1	0	12	329					A	7834371	G	A	7834371	2	1	79	1	0	0	0	0	0	0	0	1	16509	1074	38	1		1	TRAPPC1	17	7834371	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20138	7834371	73360839	16870	27187											
CNTROB	116840	broad.mit.edu	37	chr17	7840525	7840525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttctgaggccatggaggCcctgaatcgtgagcaggaaa	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7840525C>T	ENST00000563694.1	+	7	1797	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V|CNTROB_ENST00000380262.3_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	291					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCCATGGAGGCCCTGAATCGT	0.498																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(871-873)gCc>gTc		centrobin, centrosomal BRCA2 interacting protein							147	147	147					17																	7840525		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7840525C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.872C>T	17.37:g.7840525C>T	ENSP00000456335:p.Ala291Val					CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000563694.1_Missense_Mutation_p.A291V	p.A291V	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			7	1797	+		Prostate(122;0.173)	291					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.872C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282376	0.40394	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.64618	-0.11;0.8	5.81	5.81	0.92471	.	0.093058	0.45606	D	0.000343	T	0.68897	0.3051	L	0.29908	0.895	0.39465	D	0.967631	P;D;D;D	0.76494	0.775;0.999;0.999;0.999	B;D;D;D	0.83275	0.266;0.996;0.996;0.996	T	0.66420	-0.5928	10	0.30854	T	0.27	-13.9144	15.5789	0.76418	0.0:1.0:0.0:0.0	.	291;291;291;291	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	V	291	ENSP00000369614:A291V;ENSP00000369605:A291V	ENSP00000369605:A291V	A	+	2	0	CNTROB	7781250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.753000	0.94483	0.591000	0.81541	GCC		0.498	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		19	962	0	0	0	1	0	19	962					T	7840525	C	T	7840525	3	4	79	1	0	0	0	0	1	0	0	0	3660	739	26	2	898	2	CNTROB	17	7840525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6154	7840525	73354685	16871	27188											
CNTROB	116840	broad.mit.edu	37	chr17	7846813	7846813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggagagcagcctacgGcaagcagcctccctcaggga	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000563694.1	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000565740.1_Silent_p.R472R|CNTROB_ENST00000380262.3_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	472	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1414-1416)cgG>cgA		centrobin, centrosomal BRCA2 interacting protein							53	40	44					17																	7846813		2202	4300	6502	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7846813G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1416G>A	17.37:g.7846813G>A						CNTROB_ENST00000565740.1_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000563694.1_Silent_p.R472R	p.R472R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			10	2341	+		Prostate(122;0.173)	472			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1416G>A	CCDS11126.1																																																																																				0.622	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		48	253	0	0	0	1	0	48	253					A	7846813	G	A	7846813	2	1	79	1	0	0	0	0	0	0	0	1	3660	1190	42	2		2	CNTROB	17	7846813	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6288	7846813	73348397	16872	27189											
ALOX12B	242	broad.mit.edu	37	chr17	7976504	7976504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggtccagagcaccaGcagcgtgatgcacgtggtct	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	630	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1888-1890)Ctg>Ttg		arachidonate 12-lipoxygenase, 12R type							158	146	150					17																	7976504		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976504G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1888C>T	17.37:g.7976504G>A		Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_5'UTR	p.L630L	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			14	2148	-			630			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1888C>T	CCDS11129.1																																																																																				0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			194	806	0	0	0	1	0	194	806					A	7976504	G	A	7976504	2	1	79	1	0	0	0	0	0	0	0	1	537	962	34	2		2	ALOX12B	17	7976504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129691	7976504	73218706	16873	27190											
ALOX12B	242	broad.mit.edu	37	chr17	7978974	7978974	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccaagactgcaattcCggatcaccctccacggctgc	8	17	1	1	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	531	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1591-1593)ccG>ccT		arachidonate 12-lipoxygenase, 12R type							198	193	195					17																	7978974		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7978974C>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1593G>T	17.37:g.7978974C>A		Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_Intron	p.P531P	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			12	1853	-			531			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1593G>T	CCDS11129.1																																																																																				0.582	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			218	987	1	0	8.90406e-74	1	1.13387e-73	218	987					A	7978974	C	A	7978974	2	1	79	1	0	0	0	0	0	0	0	1	537	639	23	3		3	ALOX12B	17	7978974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2470	7978974	73216236	16874	27191											
ALOX12B	242	broad.mit.edu	37	chr17	7984225	7984225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggttggggttgcgatgCctccgcaccggagggcggta	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	168	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(502-504)agG>agA		arachidonate 12-lipoxygenase, 12R type							73	72	72					17																	7984225		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984225C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.504G>A	17.37:g.7984225C>T		Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_3'UTR	p.R168R	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			4	764	-			168			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.504G>A	CCDS11129.1																																																																																				0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			35	642	0	0	0	1	0	35	642					T	7984225	C	T	7984225	2	4	79	1	0	0	0	0	0	0	0	1	537	738	26	2		2	ALOX12B	17	7984225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5251	7984225	73210985	16875	27192											
PER1	5187	broad.mit.edu	37	chr17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttgcgggcacagaagCggataggggagtggtcaaag	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R406H|PER1_ENST00000354903.5_Missense_Mutation_p.R410H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	426	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1276-1278)cGc>cAc	Other conserved DNA damage response genes	period circadian clock 1							37	37	37					17																	8051103		2202	4300	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051103C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1277G>A	17.37:g.8051103C>T	ENSP00000314420:p.Arg426His					PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000581082.1_Missense_Mutation_p.R406H	p.R426H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			11	1514	-			426			PAC.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1277G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909148	0.92107	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.43688	0.94;0.94	4.73	4.73	0.59995	PAS fold-3 (1);	0.051652	0.64402	D	0.000001	T	0.76579	0.4007	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85115	0.0965	10	0.87932	D	0	-19.2658	15.5824	0.76455	0.0:1.0:0.0:0.0	.	410;426	B4DI49;O15534	.;PER1_HUMAN	H	426;410	ENSP00000314420:R426H;ENSP00000346979:R410H	ENSP00000314420:R426H	R	-	2	0	PER1	7991828	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	7.544000	0.82117	2.619000	0.88677	0.462000	0.41574	CGC		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			32	178	0	0	0	1	0	32	178					T	8051103	C	T	8051103	3	4	79	1	0	0	0	0	1	0	0	0	11771	768	27	1	2647	1	PER1	17	8051103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66878	8051103	73144107	16876	27193											
PER1	5187	broad.mit.edu	37	chr17	8053110	8053110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagacgtgatgtgctccAgctcctccagggtataggtg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8053110A>G	ENST00000317276.4	-	5	851	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PER1_ENST00000581082.1_Missense_Mutation_p.L205P|PER1_ENST00000354903.5_Missense_Mutation_p.L189P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	205					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGTGCTCCAGCTCCTCCAG	0.597			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(613-615)cTg>cCg	Other conserved DNA damage response genes	period circadian clock 1							207	198	201					17																	8053110		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053110A>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.614T>C	17.37:g.8053110A>G	ENSP00000314420:p.Leu205Pro					PER1_ENST00000354903.5_Missense_Mutation_p.L189P|PER1_ENST00000581082.1_Missense_Mutation_p.L205P	p.L205P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			5	851	-			205					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.614T>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204185	0.79127	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.54279	1.98;0.58	5.55	5.55	0.83447	.	0.074797	0.56097	D	0.000038	T	0.69088	0.3072	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.78314	0.974;0.987;0.991	T	0.72398	-0.4306	10	0.87932	D	0	-11.0552	13.6552	0.62333	1.0:0.0:0.0:0.0	.	205;189;205	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	P	205;189	ENSP00000314420:L205P;ENSP00000346979:L189P	ENSP00000314420:L205P	L	-	2	0	PER1	7993835	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.983000	0.93477	2.118000	0.64928	0.460000	0.39030	CTG		0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			18	1271	0	0	0	1	0	18	1271					G	8053110	A	G	8053110	3	3	79	1	0	0	0	0	1	0	0	0	11771	188	7	4	3334	4	PER1	17	8053110	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2007	8053110	73142100	16877	27194											
C17orf68	80169	broad.mit.edu	37	chr17	8131620	8131620	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctctccacactggaatcGctgtagccgaggaggttctg	13	11	2	0	rs200919310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131620G>A	ENST00000315684.8	-	23	3539	c.3532C>T	c.(3532-3534)Cga>Tga	p.R1178*	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1178					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTGGAATCGCTGTAGCCGA	0.547																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3532-3534)Cga>Tga		CTS telomere maintenance complex component 1							70	79	76					17																	8131620		2034	4195	6229	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131620G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3532C>T	17.37:g.8131620G>A	ENSP00000313759:p.Arg1178*						p.R1178*	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3539	-			1178					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.3532C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	41	9.047756	0.99048	.	.	ENSG00000178971	ENST00000315684	.	.	.	5.91	4.92	0.64577	.	0.400252	0.26586	N	0.023549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5863	12.2985	0.54860	0.0:0.0:0.8308:0.1692	.	.	.	.	X	1178	.	ENSP00000313759:R1178X	R	-	1	2	CTC1	8072345	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.878000	0.48515	1.454000	0.47793	0.655000	0.94253	CGA		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		85	367	0	0	0	1	0	85	367					A	8131620	G	A	8131620	4	1	79	1	0	0	0	0	0	1	0	0	1882	1095	38	1	125	1	C17orf68	17	8131620	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78510	8131620	73063590	16878	27195											
C17orf68	80169	broad.mit.edu	37	chr17	8131635	8131635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgctgtagccgaggagGttctgaggtgggaagagagg	19	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131635G>A	ENST00000315684.8	-	23	3524	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1173					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCCGAGGAGGTTCTGAGGTG	0.532																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3517-3519)Cct>Tct		CTS telomere maintenance complex component 1							73	83	80					17																	8131635		2034	4181	6215	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131635G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3517C>T	17.37:g.8131635G>A	ENSP00000313759:p.Pro1173Ser						p.P1173S	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3524	-			1173					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3517C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625210	0.46840	.	.	ENSG00000178971	ENST00000315684	D	0.83591	-1.74	5.91	0.0505	0.14293	.	0.553725	0.20157	N	0.098037	T	0.71719	0.3373	L	0.55103	1.725	0.27922	N	0.938214	B	0.16802	0.019	B	0.14023	0.01	T	0.57619	-0.7780	10	0.35671	T	0.21	-2.4118	1.6564	0.02782	0.243:0.1412:0.4705:0.1454	.	1173	Q2NKJ3	CTC1_HUMAN	S	1173	ENSP00000313759:P1173S	ENSP00000313759:P1173S	P	-	1	0	CTC1	8072360	0.998000	0.40836	0.968000	0.41197	0.854000	0.48673	0.865000	0.27940	0.392000	0.25172	0.655000	0.94253	CCT		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		109	428	0	0	0	1	0	109	428					A	8131635	G	A	8131635	3	1	79	1	0	0	0	0	1	0	0	0	1882	1261	44	2	140	2	C17orf68	17	8131635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	8131635	73063575	16879	27196											
C17orf68	80169	broad.mit.edu	37	chr17	8135057	8135057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcacagcggggccaggaGctatgagtcggtacacctgt	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135057G>T	ENST00000315684.8	-	14	2469	c.2462C>A	c.(2461-2463)gCt>gAt	p.A821D		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	821					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGGCCAGGAGCTATGAGTCG	0.532																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2461-2463)gCt>gAt		CTS telomere maintenance complex component 1							64	67	66					17																	8135057		1942	4144	6086	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135057G>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2462C>A	17.37:g.8135057G>T	ENSP00000313759:p.Ala821Asp						p.A821D	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			14	2469	-			821					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.2462C>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588796	0.13812	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86562	-2.14;-2.14	5.8	2.37	0.29283	.	0.338447	0.29737	N	0.011339	D	0.84302	0.5442	M	0.64997	1.995	0.09310	N	1	P	0.48016	0.904	P	0.47573	0.55	T	0.76903	-0.2787	10	0.66056	D	0.02	-8.7372	3.0329	0.06112	0.098:0.1799:0.5351:0.187	.	821	Q2NKJ3	CTC1_HUMAN	D	821;786	ENSP00000313759:A821D;ENSP00000396018:A786D	ENSP00000313759:A821D	A	-	2	0	CTC1	8075782	0.201000	0.23410	0.885000	0.34714	0.461000	0.32589	0.687000	0.25407	1.451000	0.47736	0.655000	0.94253	GCT		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		62	355	1	0	3.00063e-23	1	3.40875e-23	62	355					T	8135057	G	T	8135057	3	4	79	1	0	0	0	0	1	0	0	0	1882	971	34	3	1231	3	C17orf68	17	8135057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3422	8135057	73060153	16880	27197											
C17orf68	80169	broad.mit.edu	37	chr17	8135104	8135104	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagaactcaaaccagcgGactgaagagccaaagaaaat	9	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135104G>A	ENST00000315684.8	-	14	2422	c.2415C>T	c.(2413-2415)gtC>gtT	p.V805V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	805					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAAACCAGCGGACTGAAGAGC	0.567																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2413-2415)gtC>gtT		CTS telomere maintenance complex component 1							73	79	77					17																	8135104		1970	4154	6124	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135104G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2415C>T	17.37:g.8135104G>A							p.V805V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			14	2422	-			805					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.2415C>T	CCDS42259.1																																																																																				0.567	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		74	371	0	0	0	1	0	74	371					A	8135104	G	A	8135104	2	1	79	1	0	0	0	0	0	0	0	1	1882	1161	41	2		2	C17orf68	17	8135104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	8135104	73060106	16881	27198											
C17orf68	80169	broad.mit.edu	37	chr17	8138511	8138511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcttctgacgagagaaGctttgaagcagaacggcgcc	13	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8138511G>T	ENST00000315684.8	-	8	1306	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	433					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAGAGAAGCTTTGAAGCA	0.627																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1297-1299)agC>agA		CTS telomere maintenance complex component 1							70	78	75					17																	8138511		2057	4192	6249	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138511G>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1299C>A	17.37:g.8138511G>T	ENSP00000313759:p.Ser433Arg						p.S433R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1306	-			433					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1299C>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	8.108	0.778073	0.16120	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83992	-1.79;-1.79	5.04	1.91	0.25777	.	0.493717	0.21165	N	0.079081	T	0.62258	0.2413	N	0.08118	0	0.22562	N	0.998983	B	0.19331	0.035	B	0.19391	0.025	T	0.49466	-0.8937	10	0.29301	T	0.29	-4.9976	5.7604	0.18196	0.0904:0.0:0.5656:0.344	.	433	Q2NKJ3	CTC1_HUMAN	R	433;398	ENSP00000313759:S433R;ENSP00000396018:S398R	ENSP00000313759:S433R	S	-	3	2	CTC1	8079236	0.037000	0.19845	0.363000	0.25875	0.105000	0.19272	0.534000	0.23098	0.291000	0.22468	0.598000	0.82781	AGC		0.627	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		123	482	1	0	5.80419e-74	1	7.3927e-74	123	482					T	8138511	G	T	8138511	3	4	79	1	0	0	0	0	1	0	0	0	1882	962	34	3	2418	3	C17orf68	17	8138511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3407	8138511	73056699	16882	27199											
PFAS	5198	broad.mit.edu	37	chr17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttagtgggggcattgggtCcatggaagctgaccacataa	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	432					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1294-1296)tCc>tAc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						73	72	72					17																	8161476		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8161476C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1295C>A	17.37:g.8161476C>A	ENSP00000313490:p.Ser432Tyr					PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	p.S432Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			11	1428	+			432					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1295C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233363	0.09969	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.42131	1.51;0.98	5.78	3.66	0.41972	PurM, N-terminal-like (1);	0.110757	0.64402	D	0.000005	T	0.44159	0.1280	M	0.74258	2.255	0.53688	D	0.999974	B	0.32620	0.378	B	0.36186	0.219	T	0.42327	-0.9458	10	0.87932	D	0	-9.5672	8.5399	0.33386	0.0:0.757:0.1488:0.0942	.	432	O15067	PUR4_HUMAN	Y	8;432	ENSP00000441706:S8Y;ENSP00000313490:S432Y	ENSP00000313490:S432Y	S	+	2	0	PFAS	8102201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.263000	0.51546	0.677000	0.31305	0.561000	0.74099	TCC		0.607	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			96	392	1	0	4.00701e-44	1	4.89994e-44	96	392					A	8161476	C	A	8161476	3	1	79	1	0	0	0	0	1	0	0	0	11796	855	30	3	1333	3	PFAS	17	8161476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22965	8161476	73033734	16883	27200											
PFAS	5198	broad.mit.edu	37	chr17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcccccaagggaaAccccatctgcagccttcatg	11	14	2	0	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	509					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1525-1527)aAc>aGc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						120	123	122					17																	8166542		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8166542A>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1526A>G	17.37:g.8166542A>G	ENSP00000313490:p.Asn509Ser					PFAS_ENST00000545834.1_Missense_Mutation_p.N85S|PFAS_ENST00000585319.1_3'UTR	p.N509S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			13	1659	+			509					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1526A>G	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603648	0.46423	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.65105	-0.6249	10	0.87932	D	0	-24.994	14.3033	0.66368	1.0:0.0:0.0:0.0	.	85;509	F5GWT9;O15067	.;PUR4_HUMAN	S	85;509	ENSP00000441706:N85S;ENSP00000313490:N509S	ENSP00000313490:N509S	N	+	2	0	PFAS	8107267	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.163000	0.89659	2.266000	0.75297	0.533000	0.62120	AAC		0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			73	686	0	0	0	1	0	73	686					G	8166542	A	G	8166542	3	3	79	1	0	0	0	0	1	0	0	0	11796	43	2	4	1572	4	PFAS	17	8166542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5066	8166542	73028668	16884	27201											
PFAS	5198	broad.mit.edu	37	chr17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtcgccgcccggctggCcgtggccgaagccctcacca	12	17	1	0	rs117044677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	743					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17088	0.0		0.001	False		,,,				2504	0.0					ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2227-2229)gCc>gTc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)																																			SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168391C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2228C>T	17.37:g.8168391C>T	ENSP00000313490:p.Ala743Val					PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	p.A743V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			18	2361	+			743					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2228C>T	CCDS11136.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.54	3.847335	0.71603	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.53640	0.61;1.33	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.88704	2.975	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.69308	-0.5179	10	0.87932	D	0	-13.024	17.5632	0.87912	0.0:1.0:0.0:0.0	.	743	O15067	PUR4_HUMAN	V	319;743;152	ENSP00000441706:A319V;ENSP00000313490:A743V	ENSP00000313490:A743V	A	+	2	0	PFAS	8109116	1.000000	0.71417	0.945000	0.38365	0.031000	0.12232	7.035000	0.76517	2.758000	0.94735	0.563000	0.77884	GCC		0.632	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			41	193	0	0	0	1	0	41	193					T	8168391	C	T	8168391	3	4	79	1	0	0	0	0	1	0	0	0	11796	739	26	2	2294	2	PFAS	17	8168391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1849	8168391	73026819	16885	27202											
PFAS	5198	broad.mit.edu	37	chr17	8168671	8168671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagggcgcagctttggcGgatgcctgtgaggctatggt	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	782					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2344-2346)gcG>gcA		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						78	85	83					17																	8168671		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168671G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2346G>A	17.37:g.8168671G>A						PFAS_ENST00000545834.1_Silent_p.A358A	p.A782A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			19	2479	+			782					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.2346G>A	CCDS11136.1																																																																																				0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			111	466	0	0	0	1	0	111	466					A	8168671	G	A	8168671	2	1	79	1	0	0	0	0	0	0	0	1	11796	1103	39	1		1	PFAS	17	8168671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280	8168671	73026539	16886	27203											
PFAS	5198	broad.mit.edu	37	chr17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgacggaggcctcgTcacatgcctgctggagatgg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	916					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2746-2748)gTc>gCc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						111	91	98					17																	8169597		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169597T>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2747T>C	17.37:g.8169597T>C	ENSP00000313490:p.Val916Ala					PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	p.V916A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			22	2880	+			916					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2747T>C	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.14766	2.48;2.48	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.358875	0.30820	N	0.008814	T	0.13500	0.0327	L	0.32530	0.975	0.46149	D	0.998891	B	0.18461	0.028	B	0.20577	0.03	T	0.02758	-1.1114	10	0.72032	D	0.01	-7.6971	14.3183	0.66468	0.0:0.0:0.0:1.0	.	916	O15067	PUR4_HUMAN	A	492;916;325	ENSP00000441706:V492A;ENSP00000313490:V916A	ENSP00000313490:V916A	V	+	2	0	PFAS	8110322	1.000000	0.71417	0.956000	0.39512	0.512000	0.34134	7.475000	0.81041	2.274000	0.75844	0.533000	0.62120	GTC		0.592	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			50	253	0	0	0	1	0	50	253					C	8169597	T	C	8169597	3	2	79	1	0	0	0	0	1	0	0	0	11796	1667	58	4	2829	4	PFAS	17	8169597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	926	8169597	73025613	16887	27204											
PFAS	5198	broad.mit.edu	37	chr17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaggcgcttccggaagCggccagacaccttcagcctg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3445-3447)Cgg>Tgg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						35	37	36					17																	8171913		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8171913C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3445C>T	17.37:g.8171913C>T	ENSP00000313490:p.Arg1149Trp					PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	p.R1149W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			27	3578	+			1149			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3445C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881660	0.72294	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.38401	1.14;1.87	5.11	5.11	0.69529	Glutamine amidotransferase type 1 (1);	0.000000	0.64402	D	0.000001	T	0.73094	0.3543	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82178	-0.0586	10	0.87932	D	0	-24.7076	11.4877	0.50363	0.1795:0.8205:0.0:0.0	.	1149;1149	A8K8N7;O15067	.;PUR4_HUMAN	W	725;1149;558	ENSP00000441706:R725W;ENSP00000313490:R1149W	ENSP00000313490:R1149W	R	+	1	2	PFAS	8112638	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.607000	0.54102	2.537000	0.85549	0.563000	0.77884	CGG		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			11	225	0	0	0	1	0	11	225					T	8171913	C	T	8171913	3	4	79	1	0	0	0	0	1	0	0	0	11796	759	27	1	3547	1	PFAS	17	8171913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2316	8171913	73023297	16888	27205											
SLC25A35	399512	broad.mit.edu	37	chr17	8197811	8197811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccccagctgctgcGctgcgggcaggactgtgggt	17	13	0	0	rs370418707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000577745.1	-	1	825	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000380067.2_Silent_p.S105S|SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	105					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(313-315)agC>agT		solute carrier family 25, member 35		G		3,4371		0,3,2184	25	25	25		315	-3.5	0.9	17		25	0,8522		0,0,4261	no	coding-synonymous	SLC25A35	NM_201520.1		0,3,6445	AA,AG,GG		0.0,0.0686,0.0233		105/296	8197811	3,12893	2187	4261	6448	SO:0001819	synonymous_variant	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8197811G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.315C>T	17.37:g.8197811G>A						SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000577745.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S	p.S105S	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			1	359	-			105					Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	37	c.315C>T																																																																																					0.632	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		42	234	0	0	0	1	0	42	234					A	8197811	G	A	8197811	2	1	79	1	0	0	0	0	0	0	0	1	14549	1078	38	1		1	SLC25A35	17	8197811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25898	8197811	72997399	16889	27206											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatgatgcaccaacccCaatgtgcacccccatcttct	4	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	56	Pro-rich.				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)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(166-168)cCa>cAa		Rho guanine nucleotide exchange factor (GEF) 15							99	102	101					17																	8215524		2203	4300	6503	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.chr17:8215524C>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.167C>A	17.37:g.8215524C>A	ENSP00000355026:p.Pro56Gln					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	277	+			56			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.167C>A	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.850|5.850	0.341069|0.341069	0.11069|0.11069	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72051|.	-0.62;-0.62|.	5.14|5.14	0.796|0.796	0.18648|0.18648	.|.	0.685542|.	0.12656|.	N|.	0.450016|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|6	0.66056|0.52906	D|T	0.02|0.07	-0.5385|-0.5385	3.993|3.993	0.09545|0.09545	0.1636:0.5705:0.0:0.2659|0.1636:0.5705:0.0:0.2659	.|.	56;56|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	Q|K	56|18	ENSP00000355026:P56Q;ENSP00000412505:P56Q|.	ENSP00000355026:P56Q|ENSP00000413324:Q18K	P|Q	+|+	2|1	0|0	ARHGEF15|ARHGEF15	8156249|8156249	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.798000|0.798000	0.45092|0.45092	0.024000|0.024000	0.13555|0.13555	0.056000|0.056000	0.16144|0.16144	-0.145000|-0.145000	0.13849|0.13849	CCA|CAA		0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		134	496	1	0	6.58568e-60	1	8.27548e-60	134	496					A	8215524	C	A	8215524	3	1	79	1	0	0	0	0	1	0	0	0	898	594	21	3	169	3	ARHGEF15	17	8215524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17713	8215524	72979686	16890	27207											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcgctccctggtccaGgcccagcaggttccggatcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_Splice_Site|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	694					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)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2080-2082)caG>caT		Rho guanine nucleotide exchange factor (GEF) 15							77	80	79					17																	8222373		2203	4300	6503	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.chr17:8222373G>T	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.2082G>T	17.37:g.8222373G>T	ENSP00000355026:p.Gln694His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H|ARHGEF15_ENST00000582060.1_Splice_Site	p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			13	2192	+			694					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.2082G>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427328	0.43122	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.89	1.55	0.23275	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.41573	1.285	0.33947	D	0.643989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86348	0.1709	10	0.72032	D	0.01	-21.3641	3.8717	0.09039	0.2262:0.2035:0.5703:0.0	.	694;694	D3DTR7;O94989	.;ARHGF_HUMAN	H	694;484;694	ENSP00000355026:Q694H;ENSP00000412505:Q694H	ENSP00000355026:Q694H	Q	+	3	2	ARHGEF15	8163098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.627000	0.30340	0.561000	0.74099	CAG		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		105	476	1	0	7.59261e-44	1	9.28096e-44	105	476					T	8222373	G	T	8222373	3	4	79	1	0	0	0	0	1	0	0	0	898	991	35	3	2128	3	ARHGEF15	17	8222373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6849	8222373	72972837	16891	27208											
ODF4	146852	broad.mit.edu	37	chr17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgtggccttctccaagAaatggctggacctctctagg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000328248.2	+	1	495	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	ODF4_ENST00000584943.1_Intron|RP11-849F2.4_ENST00000585275.1_lincRNA	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557																																						ENST00000328248.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(307-309)Aaa>Caa		outer dense fiber of sperm tails 4							45	41	42					17																	8243676		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243676A>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.307A>C	17.37:g.8243676A>C	ENSP00000331086:p.Lys103Gln					ODF4_ENST00000584943.1_Intron	p.K103Q	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN			1	495	+			103					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.307A>C	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444775	0.25987	.	.	ENSG00000184650	ENST00000328248	T	0.25749	1.78	4.89	2.47	0.30058	.	0.425172	0.20109	N	0.099047	T	0.20495	0.0493	L	0.43923	1.385	0.40096	D	0.976312	P	0.36392	0.551	B	0.34779	0.189	T	0.07009	-1.0795	10	0.66056	D	0.02	-10.367	9.0114	0.36144	0.6393:0.3607:0.0:0.0	.	103	Q2M2E3	ODFP4_HUMAN	Q	103	ENSP00000331086:K103Q	ENSP00000331086:K103Q	K	+	1	0	ODF4	8184401	0.957000	0.32711	0.990000	0.47175	0.012000	0.07955	1.522000	0.35921	0.848000	0.35191	0.533000	0.62120	AAA		0.557	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			17	87	0	0	0	1	0	17	87					C	8243676	A	C	8243676	3	2	79	1	0	0	0	0	1	0	0	0	10875	247	9	4	309	4	ODF4	17	8243676	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21303	8243676	72951534	16892	27209											
KRBA2	124751	broad.mit.edu	37	chr17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggttctgaagcttcaGgagtgggatccatgtcatcg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000331336.2	-	2	1429	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P393L|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	475					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(1177-1179)cCt>cTt		KRAB-A domain containing 2							138	123	128					17																	8272507		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272507G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1424C>T	17.37:g.8272507G>A	ENSP00000328017:p.Pro475Leu					KRBA2_ENST00000331336.2_Missense_Mutation_p.P475L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	p.P393L			Q6ZNG9	KRBA2_HUMAN			2	2009	-			475			Integrase catalytic.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.1178C>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	9.358	1.067243	0.20067	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25749	1.87;1.78	2.56	1.59	0.23543	.	.	.	.	.	T	0.23210	0.0561	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27673	-1.0067	9	0.87932	D	0	.	5.3549	0.16055	0.1587:0.0:0.8413:0.0	.	475	Q6ZNG9	KRBA2_HUMAN	L	393;475	ENSP00000379565:P393L;ENSP00000328017:P475L	ENSP00000328017:P475L	P	-	2	0	KRBA2	8213232	0.485000	0.25972	0.002000	0.10522	0.042000	0.13812	0.667000	0.25112	0.662000	0.31006	0.650000	0.86243	CCT		0.522	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		85	380	0	0	0	1	0	85	380					A	8272507	G	A	8272507	3	1	79	1	0	0	0	0	1	0	0	0	8470	1000	35	2	58	2	KRBA2	17	8272507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28831	8272507	72922703	16893	27210											
KRBA2	124751	broad.mit.edu	37	chr17	8274848	8274848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagggcaccaggaatgaaGgcatgcagcataaaggactc	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	ENST00000331336.2	-	1	10	c.5C>A	c.(4-6)cCt>cAt	p.P2H	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	2					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CAGGAATGAAGGCATGCAGCA	0.483																																						ENST00000331336.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(4-6)cCt>cAt		KRAB-A domain containing 2							54	58	56					17																	8274848		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274848G>T	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.5C>A	17.37:g.8274848G>T	ENSP00000328017:p.Pro2His					KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	p.P2H	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN			1	10	-			2					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.5C>A	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745553	0.15710	.	.	ENSG00000184619	ENST00000331336	T	0.31769	1.48	2.21	1.22	0.21188	.	.	.	.	.	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	B	0.41036	0.346	T	0.11084	-1.0602	9	0.87932	D	0	.	4.8906	0.13724	0.1807:0.0:0.8193:0.0	.	2	Q6ZNG9	KRBA2_HUMAN	H	2	ENSP00000328017:P2H	ENSP00000328017:P2H	P	-	2	0	KRBA2	8215573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.832000	0.27490	0.501000	0.28013	0.462000	0.41574	CCT		0.483	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		35	196	1	0	2.42023e-17	1	2.67004e-17	35	196					T	8274848	G	T	8274848	3	4	79	1	0	0	0	0	1	0	0	0	8470	1000	35	3	1481	3	KRBA2	17	8274848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2341	8274848	72920362	16894	27211											
NDEL1	81565	broad.mit.edu	37	chr17	8354153	8354153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagtaactagaaagtcGgctcctagctctccaactct	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000334527.7	+	6	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(580-582)tcG>tcA		nudE neurodevelopment protein 1-like 1							76	65	69					17																	8354153		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8354153G>A	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.582G>A	17.37:g.8354153G>A						NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S	p.S194S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			6	779	+			194			Interaction with CENPF.|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.582G>A	CCDS11143.1																																																																																				0.468	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		50	172	0	0	0	1	0	50	172					A	8354153	G	A	8354153	2	1	79	1	0	0	0	0	0	0	0	1	10286	1103	39	1		1	NDEL1	17	8354153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79305	8354153	72841057	16895	27212											
NDEL1	81565	broad.mit.edu	37	chr17	8358148	8358148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaccagtccactaacTccctctgctaggatatcagc	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000334527.7	+	7	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(733-735)acT>acC		nudE neurodevelopment protein 1-like 1							240	239	239					17																	8358148		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8358148T>C	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.735T>C	17.37:g.8358148T>C						NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T	p.T245T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			7	932	+			245			Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.735T>C	CCDS11143.1																																																																																				0.403	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		196	889	0	0	0	1	0	196	889					C	8358148	T	C	8358148	2	2	79	1	0	0	0	0	0	0	0	1	10286	1538	54	4		4	NDEL1	17	8358148	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3995	8358148	72837062	16896	27213											
MYH10	4628	broad.mit.edu	37	chr17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcgttggcacgcgtcGcttcttcttctgcttcctcc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000269243.4	-	40	5816	c.5678C>T	c.(5677-5679)gCg>gTg	p.A1893V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5770-5772)gCg>gTg		myosin, heavy chain 10, non-muscle							84	72	76					17																	8380302		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8380302G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5678C>T	17.37:g.8380302G>A	ENSP00000269243:p.Ala1893Val					MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000269243.4_Missense_Mutation_p.A1893V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|NDEL1_ENST00000299734.7_Intron	p.A1924V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			42	5909	-			1893					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5771C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	MYH10	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG		0.572	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			62	242	0	0	0	1	0	62	242					A	8380302	G	A	8380302	3	1	79	1	0	0	0	0	1	0	0	0	10071	1087	38	1	260	1	MYH10	17	8380302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22154	8380302	72814908	16897	27214											
MYH10	4628	broad.mit.edu	37	chr17	8381680	8381680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttatactggtccgcgtgTcgacgctcatcctcaacctg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	ENST00000269243.4	-	39	5727	c.5589A>G	c.(5587-5589)cgA>cgG	p.R1863R	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.R1879R|MYH10_ENST00000360416.3_Silent_p.R1894R|MYH10_ENST00000396239.1_Silent_p.R1884R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1863					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGTCCGCGTGTCGACGCTCAT	0.542																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5680-5682)cgA>cgG		myosin, heavy chain 10, non-muscle							152	123	133					17																	8381680		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8381680T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5589A>G	17.37:g.8381680T>C						MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000269243.4_Silent_p.R1863R|MYH10_ENST00000379980.4_Silent_p.R1879R|NDEL1_ENST00000299734.7_Intron	p.R1894R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			41	5820	-			1863					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.5682A>G	CCDS11144.1																																																																																				0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			26	512	0	0	0	1	0	26	512					C	8381680	T	C	8381680	2	2	79	1	0	0	0	0	0	0	0	1	10071	1654	58	4		4	MYH10	17	8381680	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1378	8381680	72813530	16898	27215											
MYH10	4628	broad.mit.edu	37	chr17	8390805	8390805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagctttgttcgcagcctcGatttgggcttcgaggtcctt	12	11	0	0	rs375050384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000269243.4	-	34	5037	c.4899C>T	c.(4897-4899)atC>atT	p.I1633I	MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000360416.3_Silent_p.I1664I|MYH10_ENST00000396239.1_Silent_p.I1654I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1633					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4990-4992)atC>atT		myosin, heavy chain 10, non-muscle		G		1,4405	2.1+/-5.4	0,1,2202	254	232	239		4899	-10.1	0.1	17		239	0,8600		0,0,4300	no	coding-synonymous	MYH10	NM_005964.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1633/1977	8390805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8390805G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4899C>T	17.37:g.8390805G>A						MYH10_ENST00000269243.4_Silent_p.I1633I|MYH10_ENST00000396239.1_Silent_p.I1654I|MYH10_ENST00000379980.4_Silent_p.I1649I	p.I1664I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			36	5130	-			1633					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.4992C>T	CCDS11144.1																																																																																				0.552	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			263	1053	0	0	0	1	0	263	1053					A	8390805	G	A	8390805	2	1	79	1	0	0	0	0	0	0	0	1	10071	1048	37	1		1	MYH10	17	8390805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9125	8390805	72804405	16899	27216											
MYH10	4628	broad.mit.edu	37	chr17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatcgatgaagttccactCgatgccttcgcgctggtatt	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000269243.4	-	13	1651	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	MYH10_ENST00000379980.4_Missense_Mutation_p.E521K|MYH10_ENST00000360416.3_Missense_Mutation_p.E515K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	505	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1543-1545)Gag>Aag		myosin, heavy chain 10, non-muscle							168	143	151					17																	8445487		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8445487C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1513G>A	17.37:g.8445487C>T	ENSP00000269243:p.Glu505Lys					MYH10_ENST00000269243.4_Missense_Mutation_p.E505K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	p.E515K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			14	1681	-			505			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1543G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876551	0.97055	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.69358	2.11	0.80722	D	1	P;P;P	0.51147	0.906;0.942;0.906	P;P;P	0.52598	0.619;0.703;0.619	D	0.91663	0.5344	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	514;515;505	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	505;515;505;521	ENSP00000269243:E505K;ENSP00000353590:E515K;ENSP00000379539:E505K;ENSP00000369315:E521K	ENSP00000269243:E505K	E	-	1	0	MYH10	8386212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.735000	0.93741	0.563000	0.77884	GAG		0.473	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			69	305	0	0	0	1	0	69	305					T	8445487	C	T	8445487	3	4	79	1	0	0	0	0	1	0	0	0	10071	893	31	1	4533	1	MYH10	17	8445487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54682	8445487	72749723	16900	27217											
MYH10	4628	broad.mit.edu	37	chr17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccagagctttattgatgCgatgaacgagccagcgaaag	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000269243.4	-	12	1454	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	MYH10_ENST00000379980.4_Missense_Mutation_p.R455H|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.R449H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	439	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1345-1347)cGc>cAc		myosin, heavy chain 10, non-muscle							105	103	104					17																	8448851		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448851C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1316G>A	17.37:g.8448851C>T	ENSP00000269243:p.Arg439His					MYH10_ENST00000269243.4_Missense_Mutation_p.R439H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	p.R449H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1484	-			439			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1346G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383496	0.95967	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.90425	3.115	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	0.96149	0.9106	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	448;449;439	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	439;449;439;455	ENSP00000269243:R439H;ENSP00000353590:R449H;ENSP00000379539:R439H;ENSP00000369315:R455H	ENSP00000269243:R439H	R	-	2	0	MYH10	8389576	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	CGC		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			93	388	0	0	0	1	0	93	388					T	8448851	C	T	8448851	3	4	79	1	0	0	0	0	1	0	0	0	10071	768	27	1	4734	1	MYH10	17	8448851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	8448851	72746359	16901	27218											
CCDC42	146849	broad.mit.edu	37	chr17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgttgttccttcttTttcacctctgcccagatgtc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(919-921)aaA>aaC		coiled-coil domain containing 42							120	100	107					17																	8633478		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8633478T>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.921A>C	17.37:g.8633478T>G	ENSP00000293845:p.Lys307Asn					CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	p.K307N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			7	1147	-			307					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.921A>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568810	0.45798	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.30981	1.68;1.51	5.29	3.31	0.37934	.	0.088480	0.48767	D	0.000163	T	0.26085	0.0636	L	0.52573	1.65	0.29275	N	0.87043	P	0.36282	0.546	B	0.35550	0.205	T	0.16158	-1.0412	10	0.54805	T	0.06	-43.6762	8.4957	0.33127	0.0:0.8159:0.0:0.1841	.	307	Q96M95	CCD42_HUMAN	N	307;233	ENSP00000293845:K307N;ENSP00000444359:K233N	ENSP00000293845:K307N	K	-	3	2	CCDC42	8574203	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.435000	0.21510	0.797000	0.33971	-0.242000	0.12053	AAA		0.542	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		49	184	0	0	0	1	0	49	184					G	8633478	T	G	8633478	3	3	79	1	0	0	0	0	1	0	0	0	2821	1838	64	4	33	4	CCDC42	17	8633478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184627	8633478	72561732	16902	27219											
CCDC42	146849	broad.mit.edu	37	chr17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagcgtggccatcttaAtggtgccaagcaggagggtc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(775-777)aTt>aCt		coiled-coil domain containing 42							145	114	125					17																	8638511		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638511A>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.776T>C	17.37:g.8638511A>G	ENSP00000293845:p.Ile259Thr					CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	p.I259T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			6	1002	-			259					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.776T>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169964	0.57584	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29397	1.57;1.58	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000021	T	0.42471	0.1204	L	0.37630	1.12	0.40759	D	0.982985	D	0.76494	0.999	D	0.70716	0.97	T	0.17471	-1.0368	10	0.24483	T	0.36	-13.7427	13.9048	0.63828	1.0:0.0:0.0:0.0	.	259	Q96M95	CCD42_HUMAN	T	259;185	ENSP00000293845:I259T;ENSP00000444359:I185T	ENSP00000293845:I259T	I	-	2	0	CCDC42	8579236	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.008000	0.76341	2.127000	0.65507	0.460000	0.39030	ATT		0.572	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		10	248	0	0	0	1	0	10	248					G	8638511	A	G	8638511	3	3	79	1	0	0	0	0	1	0	0	0	2821	101	4	4	182	4	CCDC42	17	8638511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5033	8638511	72556699	16903	27220											
CCDC42	146849	broad.mit.edu	37	chr17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcattgttttgctgcaGgatctcatcatccttttcct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	215										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(643-645)Ctg>Atg		coiled-coil domain containing 42							72	66	68					17																	8638779		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638779G>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.643C>A	17.37:g.8638779G>T	ENSP00000293845:p.Leu215Met					CCDC42_ENST00000539522.2_Intron	p.L215M	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			5	869	-			215	Missing (in Ref. 2; AAH29224).				Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.643C>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658038	0.67586	.	.	ENSG00000161973	ENST00000293845	T	0.36878	1.23	5.52	4.55	0.56014	.	0.000000	0.47455	D	0.000231	T	0.52041	0.1710	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53927	-0.8369	10	0.62326	D	0.03	-25.5596	13.1418	0.59438	0.0773:0.0:0.9227:0.0	.	215	Q96M95	CCD42_HUMAN	M	215	ENSP00000293845:L215M	ENSP00000293845:L215M	L	-	1	2	CCDC42	8579504	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.336000	0.59304	1.571000	0.49722	0.563000	0.77884	CTG		0.637	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		58	335	1	0	1.78197e-24	1	2.03739e-24	58	335					T	8638779	G	T	8638779	3	4	79	1	0	0	0	0	1	0	0	0	2821	991	35	3	319	3	CCDC42	17	8638779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	8638779	72556431	16904	27221											
MFSD6L	162387	broad.mit.edu	37	chr17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccagaaggcagcgattaGgtgcttggttcccattaggg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	57						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(169-171)Cta>Ata		major facilitator superfamily domain containing 6-like							50	57	55					17																	8702270		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8702270G>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.169C>A	17.37:g.8702270G>T	ENSP00000330051:p.Leu57Ile						p.L57I	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	397	-			57					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.169C>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798281	0.70567	.	.	ENSG00000185156	ENST00000329805	D	0.84442	-1.85	4.47	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.222943	0.29369	N	0.012358	D	0.86707	0.5997	M	0.70595	2.14	0.33418	D	0.57947	D	0.64830	0.994	D	0.66716	0.946	D	0.83921	0.0301	10	0.09338	T	0.73	-9.7704	3.8006	0.08757	0.1738:0.2465:0.5797:0.0	.	57	Q8IWD5	MFS6L_HUMAN	I	57	ENSP00000330051:L57I	ENSP00000330051:L57I	L	-	1	2	MFSD6L	8642995	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	2.524000	0.45589	2.302000	0.77476	0.655000	0.94253	CTA		0.657	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		69	302	1	0	9.07738e-34	1	1.07712e-33	69	302					T	8702270	G	T	8702270	3	4	79	1	0	0	0	0	1	0	0	0	9577	991	35	3	1595	3	MFSD6L	17	8702270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63491	8702270	72492940	16905	27222											
PIK3R6	146850	broad.mit.edu	37	chr17	8725208	8725208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggatcagcccagtgGcccgcaggaaacggtgacct	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	ENST00000311434.9	-	18	2071	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	612					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CAGCCCAGTGGCCCGCAGGAA	0.587																																						ENST00000311434.9																			0											c.(1831-1833)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 6							35	36	36					17																	8725208		1989	4168	6157	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8725208G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1832C>T	17.37:g.8725208G>A	ENSP00000475670:p.Ala611Val					PIK3R6_ENST00000434064.2_5'UTR	p.A611V	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			18	2071	-			612					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1832C>T																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		10	34	0	0	0	1	0	10	34					A	8725208	G	A	8725208	3	1	79	1	0	0	0	0	1	0	0	0	11965	1203	42	2	445	2	PIK3R6	17	8725208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22938	8725208	72470002	16906	27223											
PIK3R6	146850	broad.mit.edu	37	chr17	8731458	8731458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacggggatgtagtagaGctgcaggctgagtctgggag	18	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	ENST00000311434.9	-	12	1602	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	455					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										ATGTAGTAGAGCTGCAGGCTG	0.652																																						ENST00000311434.9																			0											c.(1363-1365)Ctc>Ttc		phosphoinositide-3-kinase, regulatory subunit 6							88	91	90					17																	8731458		1991	4165	6156	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8731458G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1363C>T	17.37:g.8731458G>A	ENSP00000475670:p.Leu455Phe					PIK3R6_ENST00000434064.2_5'UTR	p.L455F	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			12	1602	-			455					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1363C>T																																																																																					0.652	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		34	351	0	0	0	1	0	34	351					A	8731458	G	A	8731458	3	1	79	1	0	0	0	0	1	0	0	0	11965	971	34	2	936	2	PIK3R6	17	8731458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6250	8731458	72463752	16907	27224											
PIK3R6	146850	broad.mit.edu	37	chr17	8741937	8741937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcttaccgggatctcGctcgaccttcttgtgcaggg	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	ENST00000311434.9	-	4	372	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGGATCTCGCTCGACCTTC	0.592																																						ENST00000311434.9																			0											c.(133-135)Cga>Tga		phosphoinositide-3-kinase, regulatory subunit 6							40	42	41					17																	8741937		1953	4116	6069	SO:0001587	stop_gained	146850				platelet activation	cytosol		g.chr17:8741937G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.133C>T	17.37:g.8741937G>A	ENSP00000475670:p.Arg45*					PIK3R6_ENST00000434064.2_5'UTR	p.R45*	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			4	372	-			45					Q658R3	Nonsense_Mutation	SNP	ENST00000311434.9	37	c.133C>T																																																																																					0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		10	42	0	0	0	1	0	10	42					A	8741937	G	A	8741937	4	1	79	1	0	0	0	0	0	1	0	0	11965	1095	38	1	2198	1	PIK3R6	17	8741937	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10479	8741937	72453273	16908	27225											
PIK3R5	23533	broad.mit.edu	37	chr17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgaacttctgcccagGcctgcggtggcctcggcgtt	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	417					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1249-1251)Cct>Tct		phosphoinositide-3-kinase, regulatory subunit 5							17	19	18					17																	8791855		2201	4299	6500	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791855G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1249C>T	17.37:g.8791855G>A	ENSP00000392812:p.Pro417Ser					PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S	p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1373	-			417					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1249C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583346	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76186	-1.0	5.51	-0.659	0.11424	.	0.537442	0.21129	N	0.079692	T	0.47655	0.1457	N	0.12182	0.205	0.24214	N	0.995461	B	0.02656	0.0	B	0.08055	0.003	T	0.24225	-1.0166	10	0.17369	T	0.5	-5.3769	6.06	0.19832	0.3788:0.0:0.5066:0.1146	.	417	Q8WYR1	PI3R5_HUMAN	S	417	ENSP00000392812:P417S	ENSP00000269300:P417S	P	-	1	0	PIK3R5	8732580	0.839000	0.29477	0.675000	0.29917	0.886000	0.51366	1.691000	0.37721	-0.061000	0.13110	-0.188000	0.12872	CCT		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		23	90	0	0	0	1	0	23	90					A	8791855	G	A	8791855	3	1	79	1	0	0	0	0	1	0	0	0	11964	1203	42	2	1433	2	PIK3R5	17	8791855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49918	8791855	72403355	16909	27226											
PIK3R5	23533	broad.mit.edu	37	chr17	8792116	8792118	+	In_Frame_Del	DEL	CCT	CCT	-													agtttccaagtcctcctccaCctcctcctcctcctcttcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8792116_8792118delCCT	ENST00000447110.1	-	10	1110_1112	c.986_988delAGG	c.(985-990)gaggtg>gtg	p.E329del	PIK3R5_ENST00000581552.1_In_Frame_Del_p.E329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.E329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	329				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctccacctcctcctcctc	0.571																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(985-990)gtg>g		phosphoinositide-3-kinase, regulatory subunit 5																																				SO:0001651	inframe_deletion	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792116_8792118delCCT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.986_988delAGG	17.37:g.8792125_8792127delCCT	ENSP00000392812:p.Glu329del					PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del	p.EV329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1110_1112	-			329	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	In_Frame_Del	DEL	ENST00000447110.1	37	c.986_988delAGG	CCDS11147.1																																																																																				0.571	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		7	216						7	216	---	---	---	---	-	8792118	CCT	-	8792116	7	5	79	1	0	1	0	1	0	0	0	0	11964	507	18	0	1694	0	PIK3R5	17	8792116	In_Frame_Del	DEL	CCT	TCGA-IB-7651-01A-11D-2154-08	261	8792116	72403094	16910	27227											
STX8	9482	broad.mit.edu	37	chr17	9471724	9471724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctttcatattgattTcgttgttgaattttctcagc	5	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.4	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	27					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATATTGATTTCGTTGTTGAA	0.368																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(79-81)cgA>cgG		syntaxin 8							176	136	149					17																	9471724		2203	4300	6503	SO:0001819	synonymous_variant	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9471724T>C	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.81A>G	17.37:g.9471724T>C						STX8_ENST00000573077.3_5'UTR|STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_Silent_p.R27R	p.R27R	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			2	508	-			27					O60712|Q53XT8	Silent	SNP	ENST00000306357.4	37	c.81A>G	CCDS32565.1																																																																																				0.368	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		12	84	0	0	0	1	0	12	84					C	9471724	T	C	9471724	2	2	79	1	0	0	0	0	0	0	0	1	15403	1770	62	4		4	STX8	17	9471724	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	679608	9471724	71723486	16911	27228											
WDR16	146845	broad.mit.edu	37	chr17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcctacagggtcatgGcaacaacgtctcctgcttgg	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000576499.1	+	2	205	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D|WDR16_ENST00000396219.3_Intron					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(190-192)gGc>gAc		WD repeat domain 16							201	178	185					17																	9489210		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9489210G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.191G>A	17.37:g.9489210G>A	ENSP00000476293:p.Gly64Asp					WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.G74D	p.G64D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			2	260	+			64						Missense_Mutation	SNP	ENST00000576499.1	37	c.191G>A		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324719	0.01309	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.59502	0.26;0.26	5.86	-1.66	0.08265	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.436137	0.27236	N	0.020293	T	0.27731	0.0682	N	0.12611	0.24	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.19811	-1.0294	10	0.09590	T	0.72	-3.5552	6.1656	0.20388	0.4481:0.2334:0.3185:0.0	.	74;64	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	D	64;74	ENSP00000339449:G64D;ENSP00000299764:G74D	ENSP00000299764:G74D	G	+	2	0	WDR16	9429935	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.843000	0.27640	-0.189000	0.10482	-0.224000	0.12420	GGC		0.473	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		159	652	0	0	0	1	0	159	652					A	9489210	G	A	9489210	3	1	79	1	0	0	0	0	1	0	0	0	17330	1203	42	2	197	2	WDR16	17	9489210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17486	9489210	71706000	16912	27229											
WDR16	146845	broad.mit.edu	37	chr17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaacacaagtcatcagTgtcctgcattagggtgaaga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1390-1392)gTg>gCg		WD repeat domain 16							177	136	150					17																	9538792		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9538792T>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1391T>C	17.37:g.9538792T>C	ENSP00000339449:p.Val464Ala					WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.V474A	p.V464A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			11	1460	+			464						Missense_Mutation	SNP	ENST00000352665.5	37	c.1391T>C	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740766	0.69304	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.73789	-0.78;-0.78;-0.78	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057202	0.64402	D	0.000002	D	0.89128	0.6627	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.71656	0.93;0.93;0.974	D	0.91646	0.5331	10	0.59425	D	0.04	-19.7206	13.8542	0.63515	0.0:0.0:0.0:1.0	.	474;396;464	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	464;396;474	ENSP00000339449:V464A;ENSP00000379521:V396A;ENSP00000299764:V474A	ENSP00000299764:V474A	V	+	2	0	WDR16	9479517	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.492000	0.81482	1.907000	0.55213	0.533000	0.62120	GTG		0.537	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		63	252	0	0	0	1	0	63	252					C	9538792	T	C	9538792	3	2	79	1	0	0	0	0	1	0	0	0	17330	1696	59	4	1433	4	WDR16	17	9538792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49582	9538792	71656418	16913	27230											
USP43	124739	broad.mit.edu	37	chr17	9631500	9631500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtcgctgttgacgggCactgcgggtgaggatgagaa	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	855					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGTTGACGGGCACTGCGGGTG	0.597																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1630-1632)ggC>ggT		ubiquitin specific peptidase 43							44	49	48					17																	9631500		2112	4223	6335	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631500C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2565C>T	17.37:g.9631500C>T						USP43_ENST00000570475.1_Silent_p.G850G|USP43_ENST00000285199.6_Silent_p.G855G	p.G544G			Q70EL4	UBP43_HUMAN			15	2706	+			855					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.1632C>T	CCDS45610.1																																																																																				0.597	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		39	128	0	0	0	1	0	39	128					T	9631500	C	T	9631500	2	4	79	1	0	0	0	0	0	0	0	1	17128	697	25	2		2	USP43	17	9631500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92708	9631500	71563710	16914	27231											
GLP2R	9340	broad.mit.edu	37	chr17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgagaaccacagcttcaaGcaaaacgtgagtttgctcag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	166					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACAGCTTCAAGCAAAACGTGA	0.577																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(496-498)aaG>aaT		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						105	84	91					17																	9745927		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.chr17:9745927G>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.498G>T	17.37:g.9745927G>T	ENSP00000262441:p.Lys166Asn					GLP2R_ENST00000574745.1_5'UTR	p.K166N	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			4	1011	+			166					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.498G>T	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.886026|1.886026	0.33348|0.33348	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.06|5.06	-3.89|-3.89	0.04193|0.04193	.|.	0.382542|.	0.19105|.	N|.	0.122616|.	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.47716|0.47716	1.5|1.5	0.18873|0.18873	N|N	0.999983|0.999983	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.30854|.	T|.	0.27|.	.|.	1.3143|1.3143	0.02104|0.02104	0.404:0.2461:0.2295:0.1204|0.404:0.2461:0.2295:0.1204	.|.	166|.	O95838|.	GLP2R_HUMAN|.	N|I	166;141;166|19	ENSP00000262441:K166N|.	ENSP00000262441:K166N|.	K|S	+|+	3|2	2|0	GLP2R|GLP2R	9686652|9686652	0.458000|0.458000	0.25760|0.25760	0.001000|0.001000	0.08648|0.08648	0.961000|0.961000	0.63080|0.63080	0.511000|0.511000	0.22739|0.22739	-0.874000|-0.874000	0.04027|0.04027	-0.181000|-0.181000	0.13052|0.13052	AAG|AGC		0.577	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			59	216	1	0	4.13886e-29	1	4.83036e-29	59	216					T	9745927	G	T	9745927	3	4	79	1	0	0	0	0	1	0	0	0	6482	962	34	3	512	3	GLP2R	17	9745927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114427	9745927	71449283	16915	27232											
GLP2R	9340	broad.mit.edu	37	chr17	9764515	9764515	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacacctggagaacacaGggtaggtaattcaccaggtg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	329					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGAGAACACAGGGTAGGTAAT	0.458																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.e8+1		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						138	132	134					17																	9764515		2203	4300	6503	SO:0001630	splice_region_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9764515G>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.986+1G>T	17.37:g.9764515G>T						GLP2R_ENST00000574745.1_Splice_Site_p.G149_splice	p.G329_splice	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			8	1498	+			329					Q4VAT3	Splice_Site	SNP	ENST00000262441.5	37	c.986_splice	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.037|5.037	0.192458|0.192458	0.09599|0.09599	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.38560|.	1.13|.	5.24|5.24	3.17|3.17	0.36434|0.36434	GPCR, family 2-like (1);|.	0.433344|.	0.17499|.	N|.	0.172059|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.85373|0.85373	2.75|2.75	0.44395|0.44395	D|D	0.997307|0.997307	D|.	0.67145|.	0.996|.	D|.	0.72338|.	0.977|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.72032|.	D|.	0.01|.	.|.	8.9082|8.9082	0.35537|0.35537	0.0881:0.1486:0.7633:0.0|0.0881:0.1486:0.7633:0.0	.|.	329|.	O95838|.	GLP2R_HUMAN|.	W|H	329;304;329|181	ENSP00000262441:G329W|.	ENSP00000262441:G329W|.	G|Q	+|+	1|3	0|2	GLP2R|GLP2R	9705240|9705240	0.996000|0.996000	0.38824|0.38824	0.665000|0.665000	0.29768|0.29768	0.137000|0.137000	0.21094|0.21094	2.431000|2.431000	0.44775|0.44775	0.689000|0.689000	0.31550|0.31550	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.458	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		Missense_Mutation	120	461	1	0	1.04472e-88	1	1.3402e-88	120	461					T	9764515	G	T	9764515	5	4	79	1	0	0	0	0	0	0	1	0	6482	1014	35	3	1015	3	GLP2R	17	9764515	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18588	9764515	71430695	16916	27233											
GLP2R	9340	broad.mit.edu	37	chr17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcatcactgatgatcAagttgaaggatttgcaaaac	7	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	408					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACTGATGATCAAGTTGAAGGA	0.378																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1222-1224)cAa>cCa		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						227	204	212					17																	9783772		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.chr17:9783772A>C	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.1223A>C	17.37:g.9783772A>C	ENSP00000262441:p.Gln408Pro					GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	p.Q408P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			11	1736	+			408					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1223A>C	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637962	0.29157	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.46063	0.88	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.405610	0.18344	N	0.144076	T	0.55986	0.1955	L	0.41710	1.295	0.35801	D	0.823106	D	0.69078	0.997	D	0.72982	0.979	T	0.64871	-0.6305	10	0.66056	D	0.02	.	14.0834	0.64939	1.0:0.0:0.0:0.0	.	408	O95838	GLP2R_HUMAN	P	408	ENSP00000262441:Q408P	ENSP00000262441:Q408P	Q	+	2	0	GLP2R	9724497	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	4.707000	0.61852	2.313000	0.78055	0.454000	0.30748	CAA		0.378	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			40	858	0	0	0	1	0	40	858					C	9783772	A	C	9783772	3	2	79	1	0	0	0	0	1	0	0	0	6482	130	5	4	1265	4	GLP2R	17	9783772	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19257	9783772	71411438	16917	27234											
GAS7	8522	broad.mit.edu	37	chr17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctttggttgaacatgTctgtttcatgccgcagctgc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000432992.2	-	13	1461	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000323816.4_Missense_Mutation_p.D374G|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	434					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(1120-1122)gAc>gGc		growth arrest-specific 7							76	62	67					17																	9821334		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9821334T>C	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1301A>G	17.37:g.9821334T>C	ENSP00000407552:p.Asp434Gly					GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D370G|GAS7_ENST00000579158.1_Missense_Mutation_p.D386G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000323816.4_Missense_Mutation_p.D370G|GAS7_ENST00000432992.2_Missense_Mutation_p.D434G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.D379G	p.D374G	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			13	1431	-			434					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.1121A>G	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920482	0.92249	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.40476	1.03;1.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.996	P;P;P;P	0.60541	0.761;0.876;0.669;0.876	T	0.36792	-0.9733	9	.	.	.	1.0203	14.3718	0.66846	0.0:0.0:0.0:1.0	.	386;374;294;434	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	434;374;373;294;139;374;83;248	ENSP00000379421:D374G;ENSP00000446214:D139G	.	D	-	2	0	GAS7	9762059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.868000	0.87116	2.235000	0.73313	0.533000	0.62120	GAC		0.637	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		43	186	0	0	0	1	0	43	186					C	9821334	T	C	9821334	3	2	79	1	0	0	0	0	1	0	0	0	6278	1667	58	4	137	4	GAS7	17	9821334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37562	9821334	71373876	16918	27235											
GAS7	8522	broad.mit.edu	37	chr17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggggttaccttggcagaGaacttgaggtgaacttctgc	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000432992.2	-	9	1036	c.876C>A	c.(874-876)ttC>ttA	p.F292L	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L|GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000323816.4_Missense_Mutation_p.F232L|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	292					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(694-696)ttC>ttA		growth arrest-specific 7							123	91	102					17																	9837492		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9837492G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.876C>A	17.37:g.9837492G>T	ENSP00000407552:p.Phe292Leu					GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F228L|GAS7_ENST00000579158.1_Missense_Mutation_p.F244L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.F228L|GAS7_ENST00000432992.2_Missense_Mutation_p.F292L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.F237L	p.F232L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			9	1006	-			292			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.696C>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929126	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.15256	2.44	4.79	3.75	0.43078	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.58432	D	0.999997	P;P;B;P	0.52061	0.592;0.95;0.28;0.95	P;P;B;P	0.59424	0.688;0.857;0.144;0.835	T	0.01059	-1.1465	9	.	.	.	-14.102	5.7423	0.18100	0.1848:0.0:0.8152:0.0	.	244;232;152;292	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	292;232;231;152;232;106	ENSP00000379421:F232L	.	F	-	3	2	GAS7	9778217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	2.506000	0.84524	0.655000	0.94253	TTC		0.532	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		22	165	1	0	1.22574e-08	1	1.28258e-08	22	165					T	9837492	G	T	9837492	3	4	79	1	0	0	0	0	1	0	0	0	6278	933	33	3	578	3	GAS7	17	9837492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16158	9837492	71357718	16919	27236											
MYH13	8735	broad.mit.edu	37	chr17	10212991	10212991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggatttcagcatccaGcacgctctgcagggcctctg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	MYH13_ENST00000252172.4_Silent_p.L1605L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1605					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCAGCATCCAGCACGCTCTGC	0.547																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4813-4815)Ctg>Ttg		myosin, heavy chain 13, skeletal muscle							52	54	53					17																	10212991		2167	4282	6449	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212991G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4813C>T	17.37:g.10212991G>A						MYH13_ENST00000570743.1_Silent_p.L1605L|MYH13_ENST00000252172.4_Silent_p.L1605L	p.L1605L			Q9UKX3	MYH13_HUMAN			33	4976	-			1605					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4813C>T	CCDS45613.1																																																																																				0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		15	57	0	0	0	1	0	15	57					A	10212991	G	A	10212991	2	1	79	1	0	0	0	0	0	0	0	1	10073	962	34	2		2	MYH13	17	10212991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375499	10212991	70982219	16920	27237											
MYH13	8735	broad.mit.edu	37	chr17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagaattcatctcctcttcCtcttccaatctctccgtcag	3	16	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	MYH13_ENST00000252172.4_Missense_Mutation_p.E932D|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	932					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTTCCTCTTCCAATC	0.458																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2794-2796)gaG>gaT		myosin, heavy chain 13, skeletal muscle							141	143	142					17																	10227477		2102	4237	6339	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10227477C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2796G>T	17.37:g.10227477C>A	ENSP00000404570:p.Glu932Asp					MYH13_ENST00000570743.1_Missense_Mutation_p.E932D|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D|RP11-401O9.3_ENST00000577743.1_RNA	p.E932D			Q9UKX3	MYH13_HUMAN			22	2959	-			932					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2796G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.708326	0.00712	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93659	-3.26	4.37	0.881	0.19166	.	.	.	.	.	T	0.74959	0.3785	N	0.02181	-0.65	0.31291	N	0.689455	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.68217	-0.5467	9	0.02654	T	1	.	3.4732	0.07575	0.2993:0.305:0.0:0.3957	.	558;932	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	932;558	ENSP00000252172:E932D	ENSP00000252172:E932D	E	-	3	2	MYH13	10168202	0.999000	0.42202	0.992000	0.48379	0.162000	0.22319	0.779000	0.26746	0.107000	0.17824	-0.302000	0.09304	GAG		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		64	297	1	0	3.94896e-32	1	4.66014e-32	64	297					A	10227477	C	A	10227477	3	1	79	1	0	0	0	0	1	0	0	0	10073	680	24	3	3096	3	MYH13	17	10227477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	10227477	70967733	16921	27238											
MYH13	8735	broad.mit.edu	37	chr17	10265484	10265484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatggagaagatgtggggCggggcctcctggcgcttttt	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGTGGGGCGGGGCCTCCT	0.502																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(454-456)ccG>ccA		myosin, heavy chain 13, skeletal muscle							99	110	106					17																	10265484		2203	4297	6500	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265484C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.456G>A	17.37:g.10265484C>T						MYH13_ENST00000570743.1_Silent_p.P152P|MYH13_ENST00000252172.4_Silent_p.P152P	p.P152P			Q9UKX3	MYH13_HUMAN			4	619	-			152			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.456G>A	CCDS45613.1																																																																																				0.502	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		57	826	0	0	0	1	0	57	826					T	10265484	C	T	10265484	2	4	79	1	0	0	0	0	0	0	0	1	10073	755	27	1		1	MYH13	17	10265484	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38007	10265484	70929726	16922	27239											
MYH8	4626	broad.mit.edu	37	chr17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagattagcattggattgTtcctcctaagaatagagata	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1890					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)			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						CATTGGATTGTTCCTCCTAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(5668-5670)gaA>gaT		myosin, heavy chain 8, skeletal muscle, perinatal							81	85	84					17																	10293915		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.chr17:10293915T>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.5670A>T	17.37:g.10293915T>A	ENSP00000384330:p.Glu1890Asp					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E1890D	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			40	5764	-			1890					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5670A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108485	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81996	-1.56	5.15	0.555	0.17247	Myosin tail (1);	0.000000	0.42172	U	0.000741	D	0.90930	0.7149	M	0.92833	3.35	0.40283	D	0.978417	D	0.54207	0.965	D	0.65573	0.936	D	0.89785	0.3964	10	0.72032	D	0.01	.	9.6578	0.39936	0.0:0.4681:0.0:0.5319	.	1890	P13535	MYH8_HUMAN	D	1890	ENSP00000384330:E1890D	ENSP00000252173:E1890D	E	-	3	2	MYH8	10234640	0.026000	0.19158	0.998000	0.56505	0.921000	0.55340	-0.867000	0.04241	-0.094000	0.12374	0.528000	0.53228	GAA		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		83	434	0	0	0	1	0	83	434					A	10293915	T	A	10293915	3	1	79	1	0	0	0	0	1	0	0	0	10082	1722	60	5	147	5	MYH8	17	10293915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28431	10293915	70901295	16923	27240											
MYH8	4626	broad.mit.edu	37	chr17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgactccttctgggaggCctcaagttcagcctgagttt	11	11	3	2	rs199592324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1472					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)			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						TTCTGGGAGGCCTCAAGTTCA	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					ENST00000403437.2																			0				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						c.(4414-4416)Gcc>Acc		myosin, heavy chain 8, skeletal muscle, perinatal		C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	103	105	105		4414	0.8	1	17		105	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1472/1938	10299984	5,13001	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.chr17:10299984C>T		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.4414G>A	17.37:g.10299984C>T	ENSP00000384330:p.Ala1472Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1472T	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			32	4508	-			1472					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4414G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998557	0.54147	0.001135	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.26	0.808	0.18719	Myosin tail (1);	0.362158	0.19522	N	0.112257	T	0.72630	0.3484	L	0.36672	1.1	0.32477	N	0.541975	B	0.22003	0.063	B	0.24848	0.056	T	0.69764	-0.5057	10	0.59425	D	0.04	.	7.0599	0.25119	0.2492:0.6169:0.0:0.134	.	1472	P13535	MYH8_HUMAN	T	1472	ENSP00000384330:A1472T	ENSP00000252173:A1472T	A	-	1	0	MYH8	10240709	0.231000	0.23751	0.997000	0.53966	0.552000	0.35366	0.814000	0.27239	0.324000	0.23333	-0.133000	0.14855	GCC		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		53	288	0	0	0	1	0	53	288					T	10299984	C	T	10299984	3	4	79	1	0	0	0	0	1	0	0	0	10082	739	26	2	1435	2	MYH8	17	10299984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6069	10299984	70895226	16924	27241											
MYH8	4626	broad.mit.edu	37	chr17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaactctttgatcttcTtctgtagttgaatttctaca	5	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1109					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)			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						TTTGATCTTCTTCTGTAGTTG	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(3325-3327)aAg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal							65	62	63					17																	10304205		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.chr17:10304205T>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.3326A>T	17.37:g.10304205T>A	ENSP00000384330:p.Lys1109Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.K1109M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			26	3420	-			1109					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3326A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631872	0.67015	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.92593	0.7647	H	0.95712	3.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	D	0.94676	0.7861	10	0.87932	D	0	.	15.5555	0.76189	0.0:0.0:0.0:1.0	.	1109	P13535	MYH8_HUMAN	M	1109	ENSP00000384330:K1109M	ENSP00000252173:K1109M	K	-	2	0	MYH8	10244930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.255000	0.74692	0.533000	0.62120	AAG		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	203	0	0	0	1	0	13	203					A	10304205	T	A	10304205	3	1	79	1	0	0	0	0	1	0	0	0	10082	1609	56	5	2547	5	MYH8	17	10304205	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4221	10304205	70891005	16925	27242											
MYH8	4626	broad.mit.edu	37	chr17	10318882	10318882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgttcacagtctttccGgcaccagattctccgctgtc	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	185	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)			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						CAGTCTTTCCGGCACCAGATT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(553-555)gcC>gcT		myosin, heavy chain 8, skeletal muscle, perinatal							118	111	114					17																	10318882		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10318882G>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.555C>T	17.37:g.10318882G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A185A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	649	-			185			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.555C>T	CCDS11153.1																																																																																				0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		97	381	0	0	0	1	0	97	381					A	10318882	G	A	10318882	2	1	79	1	0	0	0	0	0	0	0	1	10082	1103	39	1		1	MYH8	17	10318882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14677	10318882	70876328	16926	27243											
MYH8	4626	broad.mit.edu	37	chr17	10323446	10323446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgttttagcatcaaaCggcttgttttgggcctcaat	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	33					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)			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						TAGCATCAAACGGCTTGTTTT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(97-99)ccG>ccA		myosin, heavy chain 8, skeletal muscle, perinatal							229	218	222					17																	10323446		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10323446C>T		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.99G>A	17.37:g.10323446C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.P33P	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			3	193	-			33			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.99G>A	CCDS11153.1																																																																																				0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		188	711	0	0	0	1	0	188	711					T	10323446	C	T	10323446	2	4	79	1	0	0	0	0	0	0	0	1	10082	523	19	1		1	MYH8	17	10323446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4564	10323446	70871764	16927	27244											
MYH4	4622	broad.mit.edu	37	chr17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcccgttccttggcctcCtccagctcgtgctggagctt	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5722-5724)gaG>gaT		myosin, heavy chain 4, skeletal muscle							129	118	122					17																	10346788		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10346788C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5724G>T	17.37:g.10346788C>A	ENSP00000255381:p.Glu1908Asp					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E1908D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			40	5834	-			1908						Missense_Mutation	SNP	ENST00000255381.2	37	c.5724G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035179	0.07543	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.19	1.03	0.20045	Myosin tail (1);	0.000000	0.37577	U	0.002023	T	0.74943	0.3783	L	0.43646	1.37	0.38826	D	0.955749	B	0.24317	0.101	B	0.34385	0.181	T	0.62267	-0.6890	10	0.15499	T	0.54	.	8.9865	0.35997	0.0:0.5736:0.0:0.4264	.	1908	Q9Y623	MYH4_HUMAN	D	1908	ENSP00000255381:E1908D	ENSP00000255381:E1908D	E	-	3	2	MYH4	10287513	0.136000	0.22515	1.000000	0.80357	0.750000	0.42670	-0.450000	0.06803	0.447000	0.26695	0.655000	0.94253	GAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		113	513	1	0	1.76042e-48	1	2.17308e-48	113	513					A	10346788	C	A	10346788	3	1	79	1	0	0	0	0	1	0	0	0	10078	680	24	3	99	3	MYH4	17	10346788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23342	10346788	70848422	16928	27245											
MYH4	4622	broad.mit.edu	37	chr17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgctccaggtgggCgctggtgtcctgttccttct	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512																																						ENST00000255381.2																			2	Substitution - Missense(2)	p.A1781T(2)	large_intestine(1)|endometrium(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5341-5343)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							128	126	126					17																	10348418		2203	4298	6501	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348418C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5341G>A	17.37:g.10348418C>T	ENSP00000255381:p.Ala1781Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1781T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			37	5451	-			1781						Missense_Mutation	SNP	ENST00000255381.2	37	c.5341G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	MYH4	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC		0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		87	817	0	0	0	1	0	87	817					T	10348418	C	T	10348418	3	4	79	1	0	0	0	0	1	0	0	0	10078	768	27	1	494	1	MYH4	17	10348418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1630	10348418	70846792	16929	27246											
MYH4	4622	broad.mit.edu	37	chr17	10360803	10360803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcagacttctggtacaGccccaccacagtctcattca	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGGTACAGCCCCACCACA	0.512																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1831-1833)Ctg>Ttg		myosin, heavy chain 4, skeletal muscle							86	84	85					17																	10360803		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360803G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1831C>T	17.37:g.10360803G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L611L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1941	-			611			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1831C>T	CCDS11154.1																																																																																				0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		99	369	0	0	0	1	0	99	369					A	10360803	G	A	10360803	2	1	79	1	0	0	0	0	0	0	0	1	10078	962	34	2		2	MYH4	17	10360803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12385	10360803	70834407	16930	27247											
MYH1	4619	broad.mit.edu	37	chr17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttttctctcatgtttgCgtagacccttgacagcttca	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5533-5535)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							227	206	213					17																	10397923		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397923C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5534G>A	17.37:g.10397923C>T	ENSP00000226207:p.Arg1845His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1845H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			38	5628	-			1845	R -> H (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5534G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955331	0.73902	.	.	ENSG00000109061	ENST00000226207	D	0.83163	-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.88548	0.6466	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.48304	0.573	D	0.90525	0.4491	10	0.56958	D	0.05	.	18.8437	0.92196	0.0:1.0:0.0:0.0	.	1845	P12882	MYH1_HUMAN	H	1845	ENSP00000226207:R1845H	ENSP00000226207:R1845H	R	-	2	0	MYH1	10338648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.044000	0.71012	2.523000	0.85059	0.561000	0.74099	CGC		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		97	524	0	0	0	1	0	97	524					T	10397923	C	T	10397923	3	4	79	1	0	0	0	0	1	0	0	0	10070	768	27	1	297	1	MYH1	17	10397923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37120	10397923	70797287	16931	27248											
MYH1	4619	broad.mit.edu	37	chr17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctatagttcctcagggCctcagcagccatgcggttgg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1643				A -> D (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCTCAGGGCCTCAGCAGCC	0.502																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4927-4929)Gcc>Acc		myosin, heavy chain 1, skeletal muscle, adult							182	163	170					17																	10399596		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399596C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4927G>A	17.37:g.10399596C>T	ENSP00000226207:p.Ala1643Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1643T	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	5021	-			1643	A -> D (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4927G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076045	0.36662	.	.	ENSG00000109061	ENST00000226207	T	0.79845	-1.31	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76011	0.3928	M	0.62154	1.92	0.42200	D	0.991768	B	0.06786	0.001	B	0.15052	0.012	T	0.71163	-0.4673	10	0.40728	T	0.16	.	9.0459	0.36347	0.1477:0.7783:0.0:0.074	.	1643	P12882	MYH1_HUMAN	T	1643	ENSP00000226207:A1643T	ENSP00000226207:A1643T	A	-	1	0	MYH1	10340321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.784000	0.38674	2.758000	0.94735	0.655000	0.94253	GCC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		125	584	0	0	0	1	0	125	584					T	10399596	C	T	10399596	3	4	79	1	0	0	0	0	1	0	0	0	10070	739	26	2	920	2	MYH1	17	10399596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1673	10399596	70795614	16932	27249											
MYH1	4619	broad.mit.edu	37	chr17	10409416	10409416	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagcttattcaaattctCctgtggaaccatgcgagttt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	ENST00000226207.5	-	18	2063	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	657	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAATTCTCCTGTGGAACC	0.363																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e18-1		myosin, heavy chain 1, skeletal muscle, adult							131	129	130					17																	10409416		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409416C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1969-1G>A	17.37:g.10409416C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E657_splice	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			18	2063	-			657			Myosin head-like.		Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.1968_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880945	0.91740	.	.	ENSG00000109061	ENST00000226207	T	0.72167	-0.63	5.18	5.18	0.71444	Myosin head, motor domain (2);	0.000000	0.43579	U	0.000542	D	0.83580	0.5285	M	0.82630	2.6	0.80722	D	1	P	0.49961	0.93	P	0.56865	0.808	D	0.85289	0.1066	10	0.66056	D	0.02	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	657	P12882	MYH1_HUMAN	K	657	ENSP00000226207:E657K	ENSP00000226207:E657K	E	-	1	0	MYH1	10350141	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.425000	0.80255	2.861000	0.98227	0.650000	0.86243	GAG		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Missense_Mutation	105	451	0	0	0	1	0	105	451					T	10409416	C	T	10409416	5	4	79	1	0	0	0	0	0	0	1	0	10070	869	30	2	3942	2	MYH1	17	10409416	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9820	10409416	70785794	16933	27250											
MYH1	4619	broad.mit.edu	37	chr17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaagaac	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R445L(1)	endometrium(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1333-1335)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							246	225	232					17																	10415238		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415238C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1334G>A	17.37:g.10415238C>T	ENSP00000226207:p.Arg445His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R445H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			14	1428	-			445			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1334G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	MYH1	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		242	968	0	0	0	1	0	242	968					T	10415238	C	T	10415238	3	4	79	1	0	0	0	0	1	0	0	0	10070	768	27	1	4593	1	MYH1	17	10415238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5822	10415238	70779972	16934	27251											
MYH2	4620	broad.mit.edu	37	chr17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaggacaagctcatgCtccatggcacctaaaaatgc	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000245503.5	-	19	2457	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	691	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGCTCATGCTCCATGGCAC	0.453																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2071-2073)gaG>gaT		myosin, heavy chain 2, skeletal muscle, adult							85	80	82					17																	10438497		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438497C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2073G>T	17.37:g.10438497C>A	ENSP00000245503:p.Glu691Asp					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|CTC-297N7.7_ENST00000399342.2_RNA	p.E691D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			19	2457	-			691			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2073G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	3.634	-0.074998	0.07184	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.1	2.96	0.34315	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001342	T	0.55737	0.1939	N	0.01152	-0.98	0.41702	D	0.989408	B	0.02656	0.0	B	0.06405	0.002	T	0.57394	-0.7819	10	0.02654	T	1	.	8.1088	0.30903	0.0:0.6937:0.0:0.3063	.	691	Q9UKX2	MYH2_HUMAN	D	691	ENSP00000245503:E691D;ENSP00000380367:E691D	ENSP00000245503:E691D	E	-	3	2	MYH2	10379222	0.222000	0.23652	1.000000	0.80357	0.845000	0.48019	-0.368000	0.07543	1.363000	0.46019	0.591000	0.81541	GAG		0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		60	240	1	0	9.72345e-25	1	1.11288e-24	60	240					A	10438497	C	A	10438497	3	1	79	1	0	0	0	0	1	0	0	0	10076	796	28	3	3840	3	MYH2	17	10438497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23259	10438497	70756713	16935	27252											
MYH2	4620	broad.mit.edu	37	chr17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccaataagttctggtTtcttattcgatgtaatctgg	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000245503.5	-	10	1274	c.890A>C	c.(889-891)aAa>aCa	p.K297T	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	297	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGTTCTGGTTTCTTATTCGA	0.343																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(889-891)aAa>aCa		myosin, heavy chain 2, skeletal muscle, adult							53	54	53					17																	10446206		2202	4293	6495	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446206T>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.890A>C	17.37:g.10446206T>G	ENSP00000245503:p.Lys297Thr					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T	p.K297T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			10	1274	-			297			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.890A>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457002	0.63401	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.71341	-0.56;-0.56;-0.56	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000958	T	0.82051	0.4953	M	0.67517	2.055	0.58432	D	0.999994	D;P	0.65815	0.995;0.577	D;P	0.85130	0.997;0.833	D	0.84078	0.0383	10	0.72032	D	0.01	.	13.8513	0.63499	0.0:0.0:0.0:1.0	.	297;297	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	297	ENSP00000433944:K297T;ENSP00000245503:K297T;ENSP00000380367:K297T	ENSP00000245503:K297T	K	-	2	0	MYH2	10386931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.063000	0.61619	0.528000	0.53228	AAA		0.343	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	120	0	0	0	1	0	29	120					G	10446206	T	G	10446206	3	3	79	1	0	0	0	0	1	0	0	0	10076	1841	64	4	5059	4	MYH2	17	10446206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7709	10446206	70749004	16936	27253											
MYH3	4621	broad.mit.edu	37	chr17	10532983	10532983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattctgcgatatccgcacgTtcctcggcctcctccagctc	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1909					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)			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						TATCCGCACGTTCCTCGGCCT	0.552																																						ENST00000583535.1																			0				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						c.(5725-5727)gaA>gaG		myosin, heavy chain 3, skeletal muscle, embryonic							86	77	80					17																	10532983		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.chr17:10532983T>C		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.5727A>G	17.37:g.10532983T>C						MYH3_ENST00000226209.7_Silent_p.E1909E	p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			40	5814	-			1909					Q15492	Silent	SNP	ENST00000583535.1	37	c.5727A>G	CCDS11157.1																																																																																				0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		44	360	0	0	0	1	0	44	360					C	10532983	T	C	10532983	2	2	79	1	0	0	0	0	0	0	0	1	10077	1722	60	4		4	MYH3	17	10532983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86777	10532983	70662227	16937	27254											
MYH3	4621	broad.mit.edu	37	chr17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccaacctgagacaCtgtagtccacggtgcccgca	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	590	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)			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						ACCTGAGACACTGTAGTCCAC	0.552																																						ENST00000583535.1																			0				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						c.(1768-1770)aGt>aTt		myosin, heavy chain 3, skeletal muscle, embryonic							165	158	161					17																	10545853		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545853C>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.1769G>T	17.37:g.10545853C>A	ENSP00000464317:p.Ser590Ile					MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			16	1856	-			590			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1769G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668877	0.47677	.	.	ENSG00000109063	ENST00000226209	T	0.73789	-0.78	4.71	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	T	0.71728	0.3374	M	0.79011	2.435	0.40627	D	0.981821	B	0.30870	0.298	B	0.32583	0.148	T	0.73754	-0.3883	9	0.87932	D	0	.	5.7549	0.18168	0.0:0.6681:0.0:0.3319	.	590	P11055	MYH3_HUMAN	I	590	ENSP00000226209:S590I	ENSP00000226209:S590I	S	-	2	0	MYH3	10486578	0.998000	0.40836	0.994000	0.49952	0.946000	0.59487	3.265000	0.51561	1.340000	0.45581	0.650000	0.86243	AGT		0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		129	591	1	0	1.3892e-51	1	1.72483e-51	129	591					A	10545853	C	A	10545853	3	1	79	1	0	0	0	0	1	0	0	0	10077	565	20	3	4157	3	MYH3	17	10545853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12870	10545853	70649357	16938	27255											
MYH3	4621	broad.mit.edu	37	chr17	10547728	10547728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgttgtcttggaagcttCgtatccagttgctggttaat	11	6	1	0	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	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)			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						TTGGAAGCTTCGTATCCAGTT	0.383																																						ENST00000583535.1																			0				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						c.(1348-1350)acG>acA		myosin, heavy chain 3, skeletal muscle, embryonic		G		4,4402	9.9+/-24.2	0,4,2199	138	134	135		1350	-9	0.2	17	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	MYH3	NM_002470.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		450/1941	10547728	4,13002	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.chr17:10547728C>T		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.1350G>A	17.37:g.10547728C>T						MYH3_ENST00000226209.7_Silent_p.T450T	p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			14	1437	-			450			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1350G>A	CCDS11157.1																																																																																				0.383	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	512	0	0	0	1	0	19	512					T	10547728	C	T	10547728	2	4	79	1	0	0	0	0	0	0	0	1	10077	871	31	1		1	MYH3	17	10547728	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1875	10547728	70647482	16939	27256											
SCO1	6341	broad.mit.edu	37	chr17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagttagatctggcagagTtgtaatgctatctgaaagag	13	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	192					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(574-576)Act>Gct		SCO1 cytochrome c oxidase assembly protein							113	108	110					17																	10595270		2203	4300	6503	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10595270T>C	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.574A>G	17.37:g.10595270T>C	ENSP00000255390:p.Thr192Ala					SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	p.T192A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			4	634	-			192					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.574A>G	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050417	0.08243	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83914	-1.78	5.5	-1.17	0.09648	Thioredoxin-like fold (2);	0.482809	0.24419	N	0.038699	T	0.66396	0.2785	N	0.11255	0.115	0.32910	D	0.514421	B;B	0.22800	0.075;0.004	B;B	0.32393	0.145;0.031	T	0.56685	-0.7938	10	0.08179	T	0.78	-10.4468	15.0142	0.71570	0.7322:0.0:0.0:0.2677	.	161;192	A8MY34;O75880	.;SCO1_HUMAN	A	192;161	ENSP00000255390:T192A	ENSP00000255390:T192A	T	-	1	0	SCO1	10535995	0.977000	0.34250	0.463000	0.27130	0.777000	0.43975	1.403000	0.34612	-0.456000	0.07043	-0.438000	0.05819	ACT		0.393	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		51	250	0	0	0	1	0	51	250					C	10595270	T	C	10595270	3	2	79	1	0	0	0	0	1	0	0	0	13981	1725	60	4	343	4	SCO1	17	10595270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47542	10595270	70599940	16940	27257											
DNAH9	1770	broad.mit.edu	37	chr17	11532779	11532779	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccacaaactgggaaaggtgGagttcagcggcgtcagaggg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	ENST00000262442.4	+	7	1464	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	466	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGAAAGGTGGAGTTCAGCGG	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1396-1398)Gag>Tag		dynein, axonemal, heavy chain 9							97	95	96					17																	11532779		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532779G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1396G>T	17.37:g.11532779G>T	ENSP00000262442:p.Glu466*					DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*|DNAH9_ENST00000579406.1_3'UTR	p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1464	+		Breast(5;0.0122)|all_epithelial(5;0.131)	466			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.1396G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614268	0.87359	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.61	5.61	0.85477	.	0.142017	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000262442:E466X	E	+	1	0	DNAH9	11473504	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.748000	0.85085	2.657000	0.90304	0.655000	0.94253	GAG		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		60	342	1	0	7.38948e-41	1	8.96867e-41	60	342					T	11532779	G	T	11532779	4	4	79	1	0	0	0	0	0	1	0	0	4624	1175	41	3	1422	3	DNAH9	17	11532779	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	937509	11532779	69662431	16941	27258											
DNAH9	1770	broad.mit.edu	37	chr17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttcaagagatgtacaGgcttctctcaggatcctcct	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.4	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	491	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGATGTACAGGCTTCTCTCA	0.547																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1471-1473)aGg>aTg		dynein, axonemal, heavy chain 9							107	101	103					17																	11532855		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532855G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1472G>T	17.37:g.11532855G>T	ENSP00000262442:p.Arg491Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M|DNAH9_ENST00000579406.1_3'UTR	p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1540	+		Breast(5;0.0122)|all_epithelial(5;0.131)	491			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1472G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656503	0.47467	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56941	0.43;0.43	5.61	1.84	0.25277	Dynein heavy chain, domain-1 (1);	0.323004	0.31020	N	0.008406	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	B	0.33413	0.411	P	0.47102	0.537	T	0.52852	-0.8520	10	0.54805	T	0.06	.	7.0825	0.25239	0.5122:0.0:0.4878:0.0	.	491	Q9NYC9	DYH9_HUMAN	M	491	ENSP00000262442:R491M;ENSP00000414874:R491M	ENSP00000262442:R491M	R	+	2	0	DNAH9	11473580	0.956000	0.32656	0.989000	0.46669	0.184000	0.23303	0.847000	0.27696	0.606000	0.29965	0.655000	0.94253	AGG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		48	365	1	0	8.00217e-19	1	8.90025e-19	48	365					T	11532855	G	T	11532855	3	4	79	1	0	0	0	0	1	0	0	0	4624	1000	35	3	1498	3	DNAH9	17	11532855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	11532855	69662355	16942	27259											
DNAH9	1770	broad.mit.edu	37	chr17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccgaagattggggaCtatctttattcaagcttttg	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.4	+	8	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	528	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTGGGGACTATCTTTATT	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1582-1584)aCt>aTt		dynein, axonemal, heavy chain 9							125	121	123					17																	11535968		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11535968C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1583C>T	17.37:g.11535968C>T	ENSP00000262442:p.Thr528Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	8	1651	+		Breast(5;0.0122)|all_epithelial(5;0.131)	528			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1583C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058066	0.36277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.18	4.0	0.46444	Dynein heavy chain, domain-1 (1);	2.959590	0.01254	N	0.008973	T	0.64659	0.2618	M	0.63843	1.955	0.31554	N	0.658352	P	0.49090	0.919	P	0.49597	0.616	T	0.57318	-0.7832	10	0.72032	D	0.01	.	11.5811	0.50891	0.0:0.899:0.0:0.101	.	528	Q9NYC9	DYH9_HUMAN	I	528	ENSP00000262442:T528I;ENSP00000414874:T528I	ENSP00000262442:T528I	T	+	2	0	DNAH9	11476693	0.612000	0.27000	0.775000	0.31657	0.083000	0.17756	3.276000	0.51646	2.427000	0.82271	0.650000	0.86243	ACT		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		80	452	0	0	0	1	0	80	452					T	11535968	C	T	11535968	3	4	79	1	0	0	0	0	1	0	0	0	4624	565	20	2	1613	2	DNAH9	17	11535968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3113	11535968	69659242	16943	27260											
DNAH9	1770	broad.mit.edu	37	chr17	11556085	11556085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggggaacaggcatttgCgattatgtcactgaaatcac	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	787	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C787C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358																																						ENST00000262442.3																			1	Substitution - coding silent(1)	p.C787C(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2359-2361)tgC>tgT		dynein, axonemal, heavy chain 9							93	92	93					17																	11556085		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11556085C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2361C>T	17.37:g.11556085C>T						DNAH9_ENST00000454412.2_Silent_p.C787C	p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2429	+		Breast(5;0.0122)|all_epithelial(5;0.131)	787			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.2361C>T	CCDS11160.1																																																																																				0.358	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		65	342	0	0	0	1	0	65	342					T	11556085	C	T	11556085	2	4	79	1	0	0	0	0	0	0	0	1	4624	776	27	1		1	DNAH9	17	11556085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20117	11556085	69639125	16944	27261											
DNAH9	1770	broad.mit.edu	37	chr17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggattcattgaagcccagtCattagccagaaagttcatca	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.4	+	30	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2018	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGCCCAGTCATTAGCCAGA	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6052-6054)tCa>tTa		dynein, axonemal, heavy chain 9							192	168	176					17																	11645572		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11645572C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6053C>T	17.37:g.11645572C>T	ENSP00000262442:p.Ser2018Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	30	6121	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2018			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6053C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640598	0.03557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	5.61	-1.09	0.09904	.	1.252010	0.05540	N	0.565486	T	0.19604	0.0471	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.02654	T	1	.	11.5605	0.50774	0.0:0.5102:0.0:0.4898	.	2018	Q9NYC9	DYH9_HUMAN	L	2018;2018;600	ENSP00000262442:S2018L;ENSP00000414874:S2018L	ENSP00000262442:S2018L	S	+	2	0	DNAH9	11586297	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.755000	0.26405	-0.064000	0.13043	-0.322000	0.08575	TCA		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		87	390	0	0	0	1	0	87	390					T	11645572	C	T	11645572	3	4	79	1	0	0	0	0	1	0	0	0	4624	838	29	2	6171	2	DNAH9	17	11645572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89487	11645572	69549638	16945	27262											
DNAH9	1770	broad.mit.edu	37	chr17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagctcctggctgtgCggcactctgtatttgtggtg	16	8	1	0	rs138652506	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.4	+	32	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGCTGTGCGGCACTCTGT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		17074	0.002		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6430-6432)Cgg>Tgg		dynein, axonemal, heavy chain 9		C	TRP/ARG	0,4406		0,0,2203	65	61	62		6430	0.1	0.3	17	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2144/4487	11650903	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650903C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6430C>T	17.37:g.11650903C>T	ENSP00000262442:p.Arg2144Trp					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6498	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2144			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6430C>T	CCDS11160.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.38	3.611421	0.66558	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.03	0.113	0.14631	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.70254	0.3203	H	0.99740	4.74	0.80722	D	1	D	0.55605	0.972	P	0.50537	0.643	D	0.83810	0.0241	10	0.72032	D	0.01	.	13.858	0.63542	0.5383:0.4617:0.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	W	2144;2144;726	ENSP00000262442:R2144W;ENSP00000414874:R2144W	ENSP00000262442:R2144W	R	+	1	2	DNAH9	11591628	0.013000	0.17824	0.299000	0.25016	0.864000	0.49448	0.130000	0.15850	0.093000	0.17368	0.557000	0.71058	CGG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		41	183	0	0	0	1	0	41	183					T	11650903	C	T	11650903	3	4	79	1	0	0	0	0	1	0	0	0	4624	759	27	1	6556	1	DNAH9	17	11650903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5331	11650903	69544307	16946	27263											
DNAH9	1770	broad.mit.edu	37	chr17	11684429	11684429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgaacatgcctgaggtGgatgcctacgggacggtgca	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.4	+	39	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000454412.2_Silent_p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2552	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGAGGTGGATGCCTACG	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7654-7656)gtG>gtT		dynein, axonemal, heavy chain 9							68	56	60					17																	11684429		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684429G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7656G>T	17.37:g.11684429G>T						DNAH9_ENST00000454412.2_Silent_p.V2552V	p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7724	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2552			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7656G>T	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		30	176	1	0	1.38854e-25	1	1.59452e-25	30	176					T	11684429	G	T	11684429	2	4	79	1	0	0	0	0	0	0	0	1	4624	1335	47	3		3	DNAH9	17	11684429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33526	11684429	69510781	16947	27264											
DNAH9	1770	broad.mit.edu	37	chr17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcgatctggccctcGccttccaccagaaaattgct	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.4	+	41	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2657	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGCCCTCGCCTTCCACCA	0.502																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7969-7971)Gcc>Acc		dynein, axonemal, heavy chain 9							172	162	166					17																	11687764		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687764G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7969G>A	17.37:g.11687764G>A	ENSP00000262442:p.Ala2657Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8037	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2657			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7969G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055534	0.19907	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41758	0.99;0.99	5.56	0.599	0.17519	.	0.197317	0.45126	N	0.000395	T	0.24736	0.0600	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.04961	-1.0915	10	0.19590	T	0.45	.	3.973	0.09462	0.4292:0.0:0.4033:0.1676	.	2657	Q9NYC9	DYH9_HUMAN	T	2657;2657;1239	ENSP00000262442:A2657T;ENSP00000414874:A2657T	ENSP00000262442:A2657T	A	+	1	0	DNAH9	11628489	0.041000	0.20044	0.972000	0.41901	0.532000	0.34746	1.208000	0.32345	0.313000	0.23062	-1.552000	0.00895	GCC		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		139	721	0	0	0	1	0	139	721					A	11687764	G	A	11687764	3	1	79	1	0	0	0	0	1	0	0	0	4624	1087	38	1	8131	1	DNAH9	17	11687764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	11687764	69507446	16948	27265											
DNAH9	1770	broad.mit.edu	37	chr17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaatcaaatcgagttTatcgggataagatggtagaa	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.4	+	42	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2715					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCGAGTTTATCGGGATAA	0.398																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8143-8145)Tat>Cat		dynein, axonemal, heavy chain 9							138	135	136					17																	11696901		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696901T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8143T>C	17.37:g.11696901T>C	ENSP00000262442:p.Tyr2715His					DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2715					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8143T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611899	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40756	1.02;1.02	5.76	5.76	0.90799	.	0.140928	0.49916	D	0.000140	T	0.71281	0.3321	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2715	Q9NYC9	DYH9_HUMAN	H	2715;2715;1297	ENSP00000262442:Y2715H;ENSP00000414874:Y2715H	ENSP00000262442:Y2715H	Y	+	1	0	DNAH9	11637626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TAT		0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		86	382	0	0	0	1	0	86	382					C	11696901	T	C	11696901	3	2	79	1	0	0	0	0	1	0	0	0	4624	1754	61	4	8309	4	DNAH9	17	11696901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9137	11696901	69498309	16949	27266											
DNAH9	1770	broad.mit.edu	37	chr17	11711199	11711199	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgcaaaggctaccagatCcaggacttcaaggtaaaagg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.4	+	44	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000454412.2_Silent_p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2857	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTACCAGATCCAGGACTTCA	0.557																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8569-8571)atC>atA		dynein, axonemal, heavy chain 9							57	51	53					17																	11711199		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711199C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8571C>A	17.37:g.11711199C>A						DNAH9_ENST00000454412.2_Silent_p.I2857I	p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8639	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2857			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.8571C>A	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		52	186	1	0	3.68337e-26	1	4.24002e-26	52	186					A	11711199	C	A	11711199	2	1	79	1	0	0	0	0	0	0	0	1	4624	845	30	3		3	DNAH9	17	11711199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14298	11711199	69484011	16950	27267											
DNAH9	1770	broad.mit.edu	37	chr17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtggaacccaagcGccaggcactgaacaaagcca	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.4	+	50	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3286	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCCAAGCGCCAGGCACTG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9856-9858)cGc>cAc		dynein, axonemal, heavy chain 9							71	73	73					17																	11757669		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757669G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9857G>A	17.37:g.11757669G>A	ENSP00000262442:p.Arg3286His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9925	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3286			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9857G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813593	0.70912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.239323	0.41097	D	0.000942	D	0.94248	0.8153	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95977	0.8974	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	3286	Q9NYC9	DYH9_HUMAN	H	3286;3286;1868	ENSP00000262442:R3286H;ENSP00000414874:R3286H	ENSP00000262442:R3286H	R	+	2	0	DNAH9	11698394	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.384000	0.79751	2.828000	0.97474	0.655000	0.94253	CGC		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		114	478	0	0	0	1	0	114	478					A	11757669	G	A	11757669	3	1	79	1	0	0	0	0	1	0	0	0	4624	1087	38	1	10055	1	DNAH9	17	11757669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46470	11757669	69437541	16951	27268											
DNAH9	1770	broad.mit.edu	37	chr17	11845625	11845625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgtggggcaggtcaaGgcacttctggaagaaatatt	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.4	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000608377.1_Silent_p.K534K|DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4222					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGTCAAGGCACTTCTGG	0.498																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12664-12666)aaG>aaA		dynein, axonemal, heavy chain 9							164	158	160					17																	11845625		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11845625G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12666G>A	17.37:g.11845625G>A						DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_Silent_p.K534K	p.K4222K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	67	12734	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4222					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.12666G>A	CCDS11160.1																																																																																				0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		146	759	0	0	0	1	0	146	759					A	11845625	G	A	11845625	2	1	79	1	0	0	0	0	0	0	0	1	4624	991	35	2		2	DNAH9	17	11845625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87956	11845625	69349585	16952	27269											
DNAH9	1770	broad.mit.edu	37	chr17	11865483	11865483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgcaatgtgacatgacGaagaagaacagagaagagtt	12	7	0	6	rs138480985|rs573981769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.4	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Silent_p.T693T|DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4381					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACATGACGAAGAAGAACA	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13141-13143)acG>acA		dynein, axonemal, heavy chain 9		A	,	0,4406		0,0,2203	76	76	76		13143,2079	-10.1	0.4	17	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	4381/4487,693/799	11865483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865483G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13143G>A	17.37:g.11865483G>A						RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_Silent_p.T693T	p.T4381T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4381					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13143G>A	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	358	0	0	0	1	0	32	358					A	11865483	G	A	11865483	2	1	79	1	0	0	0	0	0	0	0	1	4624	1045	37	1		1	DNAH9	17	11865483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19858	11865483	69329727	16953	27270											
ZNF18	7566	broad.mit.edu	37	chr17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcccagacatcacctgGtaacggaactgcctgaaaag	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	49	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACATCACCTGGTAACGGAACT	0.547																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(145-147)taC>taA		zinc finger protein 18							95	89	91					17																	11896000		2203	4300	6503	SO:0001587	stop_gained	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11896000G>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.147C>A	17.37:g.11896000G>T	ENSP00000315664:p.Tyr49*					ZNF18_ENST00000580306.1_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000580613.1_5'UTR|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	751	-			49			SCAN box.		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	ENST00000322748.3	37	c.147C>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544561	0.96488	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.29	3.31	0.37934	.	0.000000	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1966	7.8206	0.29286	0.1889:0.0:0.8111:0.0	.	.	.	.	X	49	.	ENSP00000315664:Y49X	Y	-	3	2	ZNF18	11836725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.417000	0.44653	0.628000	0.30357	0.655000	0.94253	TAC		0.547	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		69	334	1	0	2.26907e-38	1	2.73382e-38	69	334					T	11896000	G	T	11896000	4	4	79	1	0	0	0	0	0	1	0	0	17800	1256	44	3	1526	3	ZNF18	17	11896000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30517	11896000	69299210	16954	27271											
MAP2K4	6416	broad.mit.edu	37	chr17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacacacagcattgagTcatcaggaaaactgaagatc	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000353533.5	+	3	310	c.247T>G	c.(247-249)Tca>Gca	p.S83A	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	83					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGCATTGAGTCATCAGGAAA	0.378			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(280-282)Tca>Gca		mitogen-activated protein kinase kinase 4							82	78	79					17																	11984701		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11984701T>G	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.247T>G	17.37:g.11984701T>G	ENSP00000262445:p.Ser83Ala					MAP2K4_ENST00000353533.5_Missense_Mutation_p.S83A	p.S94A			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	4	333	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	83					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.280T>G	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573666	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72505	-0.55;-0.66	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64997	1.995	0.80722	D	1	B;B	0.26975	0.165;0.103	B;B	0.30855	0.121;0.023	T	0.70666	-0.4809	10	0.59425	D	0.04	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	94;83	P45985-2;P45985	.;MP2K4_HUMAN	A	83;94;60	ENSP00000262445:S83A;ENSP00000410402:S94A	ENSP00000262445:S83A	S	+	1	0	MAP2K4	11925426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.123000	0.65237	0.459000	0.35465	TCA		0.378	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			102	357	0	0	0	1	0	102	357					G	11984701	T	G	11984701	3	3	79	1	0	0	0	0	1	0	0	0	9280	1667	58	4	257	4	MAP2K4	17	11984701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88701	11984701	69210509	16955	27272											
MAP2K4	6416	broad.mit.edu	37	chr17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctgaggaaagggaattctCcccgagtttcatcaactttg	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000353533.5	+	9	1073	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S348Y	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGGAATTCTCCCCGAGTTTC	0.428			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1042-1044)tCc>tAc		mitogen-activated protein kinase kinase 4							114	108	110					17																	12032574		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032574C>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1010C>A	17.37:g.12032574C>A	ENSP00000262445:p.Ser337Tyr					MAP2K4_ENST00000353533.5_Missense_Mutation_p.S337Y	p.S348Y			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1096	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	337			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.1043C>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983003	0.93044	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	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	0.62756	0.2454	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.974;0.985	T	0.72855	-0.4166	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	209;348;337	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Y	337;348;314;209	ENSP00000262445:S337Y;ENSP00000410402:S348Y	ENSP00000262445:S337Y	S	+	2	0	MAP2K4	11973299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	TCC		0.428	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			16	335	1	0	5.35267e-07	1	5.54261e-07	16	335					A	12032574	C	A	12032574	3	1	79	1	0	0	0	0	1	0	0	0	9280	855	30	3	1044	3	MAP2K4	17	12032574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47873	12032574	69162636	16956	27273											
RICH2	9912	broad.mit.edu	37	chr17	12859293	12859293	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctcctatggccacaagcaGaagggtaagtacagggcgga	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12859293G>T	ENST00000379672.5	+	14	1546	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.E416*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.E416*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	416	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCACAAGCAGAAGGGTAAGT	0.502																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1246-1248)Gaa>Taa		Rho GTPase activating protein 44							52	50	51					17																	12859293		2011	4167	6178	SO:0001587	stop_gained	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12859293G>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1246G>T	17.37:g.12859293G>T	ENSP00000368994:p.Glu416*					ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.E416*|ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.E416*	p.E416*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			14	1546	+			416			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Nonsense_Mutation	SNP	ENST00000379672.5	37	c.1246G>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	40	8.093542	0.98651	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	.	.	.	5.67	5.67	0.87782	.	0.110120	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.2693	0.87096	0.0:0.0:1.0:0.0	.	.	.	.	X	416;78;416	.	ENSP00000342566:E416X	E	+	1	0	ARHGAP44	12800018	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GAA		0.502	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		6	132	1	0	0.0293803	1	0.0294705	6	132					T	12859293	G	T	12859293	4	4	79	1	0	0	0	0	0	1	0	0	13407	943	33	3	1300	3	RICH2	17	12859293	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826719	12859293	68335917	16957	27274											
ELAC2	60528	broad.mit.edu	37	chr17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgggccgtcctgcGcactcctcctgtactcctgc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	467					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGTCCTGCGCACTCCTCCT	0.567																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1399-1401)gCg>gTg		elaC ribonuclease Z 2							53	51	52					17																	12903496		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12903496G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1400C>T	17.37:g.12903496G>A	ENSP00000337445:p.Ala467Val					ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	p.A467V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			15	1639	-			467					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1400C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537678	0.27475	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64618	0.29;-0.11;-0.11	5.0	-2.19	0.07015	.	1.307490	0.04695	N	0.414906	T	0.36908	0.0984	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.002;0.003;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.0;0.001;0.002	T	0.25916	-1.0118	10	0.09084	T	0.74	-0.8698	9.9441	0.41598	0.4499:0.0:0.5501:0.0	.	427;450;448;265;467;227;452;95	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	427;467;448;145	ENSP00000405223:A427V;ENSP00000337445:A467V;ENSP00000379291:A448V	ENSP00000337445:A467V	A	-	2	0	ELAC2	12844221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.146000	0.03191	-0.586000	0.05898	-0.142000	0.14014	GCG		0.567	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			37	235	0	0	0	1	0	37	235					A	12903496	G	A	12903496	3	1	79	1	0	0	0	0	1	0	0	0	5065	1087	38	1	1120	1	ELAC2	17	12903496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44203	12903496	68291714	16958	27275											
ELAC2	60528	broad.mit.edu	37	chr17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttgggaagctgcagcGcctcaactatgaattcctca	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	450					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A450V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577																																						ENST00000338034.4																			1	Substitution - Missense(1)	p.A450V(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1348-1350)gCg>gTg		elaC ribonuclease Z 2							65	63	64					17																	12903547		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12903547G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1349C>T	17.37:g.12903547G>A	ENSP00000337445:p.Ala450Val					ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	p.A450V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			15	1588	-			450					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1349C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860073	0.32884	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.65178	0.29;-0.13;-0.14	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.62723	1.935	0.80722	D	1	D;B;D;B;D;D;P;P	0.89917	1.0;0.414;0.999;0.414;1.0;0.987;0.888;0.55	D;B;D;B;D;P;B;B	0.87578	0.998;0.087;0.966;0.041;0.998;0.64;0.28;0.18	T	0.70135	-0.4955	10	0.27785	T	0.31	-20.3679	11.023	0.47728	0.0901:0.0:0.9099:0.0	.	410;433;431;248;450;210;435;78	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	410;450;431;128	ENSP00000405223:A410V;ENSP00000337445:A450V;ENSP00000379291:A431V	ENSP00000337445:A450V	A	-	2	0	ELAC2	12844272	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.790000	0.85794	1.345000	0.45676	0.650000	0.86243	GCG		0.577	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			52	231	0	0	0	1	0	52	231					A	12903547	G	A	12903547	3	1	79	1	0	0	0	0	1	0	0	0	5065	1087	38	1	1171	1	ELAC2	17	12903547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51	12903547	68291663	16959	27276											
ELAC2	60528	broad.mit.edu	37	chr17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcagcaatgatgggaGcgatggcagctgtcccactg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	272					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(814-816)gCt>gAt		elaC ribonuclease Z 2							135	127	130					17																	12909125		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12909125G>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.815C>A	17.37:g.12909125G>T	ENSP00000337445:p.Ala272Asp					ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D	p.A272D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			10	1054	-			272					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.815C>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125188	0.20959	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.64618	0.33;-0.1;-0.11	4.85	3.86	0.44501	.	0.436165	0.26463	N	0.024232	T	0.70596	0.3242	M	0.68317	2.08	0.09310	N	0.999999	D;P;D;P;D;P	0.63880	0.987;0.954;0.993;0.839;0.987;0.907	P;P;P;B;P;P	0.56916	0.649;0.467;0.809;0.347;0.649;0.475	T	0.63690	-0.6580	10	0.66056	D	0.02	-19.3785	11.1433	0.48415	0.0:0.1865:0.8135:0.0	.	232;255;253;95;272;32	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	D	232;272;253	ENSP00000405223:A232D;ENSP00000337445:A272D;ENSP00000379291:A253D	ENSP00000337445:A272D	A	-	2	0	ELAC2	12849850	0.815000	0.29118	0.015000	0.15790	0.760000	0.43138	2.003000	0.40844	1.356000	0.45884	0.563000	0.77884	GCT		0.502	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			89	356	1	0	7.83748e-43	1	9.55338e-43	89	356					T	12909125	G	T	12909125	3	4	79	1	0	0	0	0	1	0	0	0	5065	971	34	3	1725	3	ELAC2	17	12909125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5578	12909125	68286085	16960	27277											
TEKT3	64518	broad.mit.edu	37	chr17	15212016	15212016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcggcacaactcaatgttCggccgtcttgtgcgctcatc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000462175.1_5'Flank|TEKT3_ENST00000338696.2_Silent_p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1219-1221)ccG>ccA		tektin 3							180	140	153					17																	15212016		2203	4300	6503	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15212016C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1221G>A	17.37:g.15212016C>T						TEKT3_ENST00000338696.2_Silent_p.P407P	p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	8	1407	-			407					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.1221G>A	CCDS11169.1																																																																																				0.577	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		100	432	0	0	0	1	0	100	432					T	15212016	C	T	15212016	2	4	79	1	0	0	0	0	0	0	0	1	15806	871	31	1		1	TEKT3	17	15212016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302891	15212016	65983194	16961	27278											
CDRT4	284040	broad.mit.edu	37	chr17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagatgatcttgttataGttttcagttggacagtctct	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(391-393)aaC>aaA		CMT1A duplicated region transcript 4							132	113	119					17																	15341153		2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341153G>T	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.393C>A	17.37:g.15341153G>T	ENSP00000310031:p.Asn131Lys					TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.N131K	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	673	-			131					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.393C>A		.	.	.	.	.	.	.	.	.	.	G	15.21	2.764707	0.49574	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.33438	1.41	4.98	1.66	0.24008	.	0.729990	0.12744	N	0.442764	T	0.25754	0.0627	L	0.56769	1.78	0.09310	N	0.999999	B	0.27882	0.192	B	0.25759	0.063	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.0843	3.8536	0.08965	0.2239:0.2043:0.5718:0.0	.	131	Q8N9R6	CDRT4_HUMAN	K	132;131	ENSP00000310031:N131K	ENSP00000310031:N131K	N	-	3	2	CDRT4	15281878	0.391000	0.25221	0.029000	0.17559	0.701000	0.40568	1.313000	0.33585	0.665000	0.31066	0.650000	0.86243	AAC		0.478	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		61	228	1	0	4.45325e-31	1	5.23636e-31	61	228					T	15341153	G	T	15341153	3	4	79	1	0	0	0	0	1	0	0	0	3185	1020	36	3	66	3	CDRT4	17	15341153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129137	15341153	65854057	16962	27279											
CDRT4	284040	broad.mit.edu	37	chr17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctagttttgcttttctcaAtgagtcttttcactgtctga	6	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(127-129)aTt>aCt		CMT1A duplicated region transcript 4							131	115	120					17																	15341418		2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341418A>G	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.128T>C	17.37:g.15341418A>G	ENSP00000310031:p.Ile43Thr					TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.I43T	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	408	-			43					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.128T>C		.	.	.	.	.	.	.	.	.	.	A	12.06	1.823926	0.32237	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.34472	1.36	5.01	3.93	0.45458	.	0.119145	0.38058	N	0.001826	T	0.25644	0.0624	L	0.42245	1.32	0.80722	D	1	B	0.30937	0.301	B	0.27715	0.082	T	0.05321	-1.0892	10	0.27082	T	0.32	-19.6174	6.6705	0.23066	0.8924:0.0:0.1076:0.0	.	43	Q8N9R6	CDRT4_HUMAN	T	44;43	ENSP00000310031:I43T	ENSP00000310031:I43T	I	-	2	0	CDRT4	15282143	0.916000	0.31088	0.659000	0.29680	0.106000	0.19336	2.505000	0.45424	0.956000	0.37904	0.482000	0.46254	ATT		0.493	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		89	418	0	0	0	1	0	89	418					G	15341418	A	G	15341418	3	3	79	1	0	0	0	0	1	0	0	0	3185	101	4	4	331	4	CDRT4	17	15341418	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265	15341418	65853792	16963	27280											
CDRT1	374286	broad.mit.edu	37	chr17	15522551	15522551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctttcttgctgaggtcGatccgggacctgttatagat	10	11	2	2	rs535994502	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	92										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGCTGAGGTCGATCCGGGACC	0.388													G|||	3	0.000599042	0.0	0.0	5008	,	,		21927	0.0		0.0	False		,,,				2504	0.0031					ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(274-276)atC>atT		CMT1A duplicated region transcript 1							133	136	135					17																	15522551		2202	4298	6500	SO:0001819	synonymous_variant	374286							g.chr17:15522551G>A	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.276C>T	17.37:g.15522551G>A						RP11-385D13.1_ENST00000455584.2_Intron	p.I92I	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	275	-			92					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.276C>T	CCDS45619.1																																																																																				0.388	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		129	651	0	0	0	1	0	129	651					A	15522551	G	A	15522551	2	1	79	1	0	0	0	0	0	0	0	1	3183	1048	37	1		1	CDRT1	17	15522551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181133	15522551	65672659	16964	27281											
TRIM16	10626	broad.mit.edu	37	chr17	15532139	15532139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagtcgatatagaccccGagcctccggaaagggccagc	14	12	0	1	rs368962289	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	495	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TATAGACCCCGAGCCTCCGGA	0.522													G|||	12	0.00239617	0.0	0.0	5008	,	,		18290	0.0119		0.0	False		,,,				2504	0.0					ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1483-1485)ctC>ctT		tripartite motif containing 16							69	71	70					17																	15532139		2203	4300	6503	SO:0001819	synonymous_variant	10626							g.chr17:15532139G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1485C>T	17.37:g.15532139G>A						TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.L365L	p.L495L						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2340	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.1485C>T	CCDS11171.1																																																																																				0.522	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		27	435	0	0	0	1	0	27	435					A	15532139	G	A	15532139	2	1	79	1	0	0	0	0	0	0	0	1	16544	1045	37	1		1	TRIM16	17	15532139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9588	15532139	65663071	16965	27282											
ZNF286A	57335	broad.mit.edu	37	chr17	15620048	15620048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgggaaaggttttaatcGaagtacacatcttgtgcagc	11	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	ENST00000464847.2	+	5	1563	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	337					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.R337Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGTTTTAATCGAAGTACACAT	0.378																																						ENST00000464847.2																			1	Substitution - Missense(1)	p.R337Q(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1009-1011)cGa>cAa		zinc finger protein 286A							59	52	54					17																	15620048		2202	4297	6499	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620048G>A	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1010G>A	17.37:g.15620048G>A	ENSP00000464218:p.Arg337Gln					ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q	p.R337Q			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1563	+			337					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1010G>A	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	5.552	0.286729	0.10513	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07444	3.19;3.19	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33290	N	0.005063	T	0.03053	0.0090	N	0.11106	0.095	0.09310	N	1	B	0.33826	0.427	B	0.24006	0.05	T	0.38735	-0.9647	10	0.02654	T	1	-8.8043	9.6418	0.39844	0.0:0.0:0.7918:0.2081	.	337	Q9HBT8	Z286A_HUMAN	Q	337;327;337	ENSP00000397163:R337Q;ENSP00000408168:R327Q	ENSP00000435872:R337Q	R	+	2	0	ZNF286A	15560773	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.266000	0.18534	2.335000	0.79485	0.650000	0.86243	CGA		0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		15	213	0	0	0	1	0	15	213					A	15620048	G	A	15620048	3	1	79	1	0	0	0	0	1	0	0	0	17876	1058	37	1	1028	1	ZNF286A	17	15620048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87909	15620048	65575162	16966	27283											
NCOR1	9611	broad.mit.edu	37	chr17	15938174	15938174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaagagggccgttccGttcctaagtagccttgccca	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15938174G>A	ENST00000268712.3	-	45	7297	c.7040C>T	c.(7039-7041)aCg>aTg	p.T2347M	NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M|NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2347	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGCCGTTCCGTTCCTAAGTA	0.502																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7039-7041)aCg>aTg		nuclear receptor corepressor 1							125	119	121					17																	15938174		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15938174G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7040C>T	17.37:g.15938174G>A	ENSP00000268712:p.Thr2347Met					NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M	p.T2347M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	45	7297	-			2347			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7040C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886070	0.72410	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.48522	0.81;1.39;0.81	5.35	4.36	0.52297	.	0.431594	0.29572	N	0.011776	T	0.63534	0.2519	L	0.54323	1.7	0.31714	N	0.639108	D;B;D;P;P	0.76494	0.961;0.298;0.999;0.914;0.951	P;B;D;P;P	0.73380	0.518;0.09;0.98;0.595;0.727	T	0.71513	-0.4570	10	0.87932	D	0	-0.5725	15.0177	0.71600	0.0:0.1555:0.8444:0.0	.	2250;2347;2244;866;360	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	M	2347;2244;2250;931	ENSP00000268712:T2347M;ENSP00000379192:T2244M;ENSP00000379198:T931M	ENSP00000268712:T2347M	T	-	2	0	NCOR1	15878899	1.000000	0.71417	0.046000	0.18839	0.962000	0.63368	4.224000	0.58593	1.362000	0.46000	0.650000	0.86243	ACG		0.502	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		15	550	0	0	0	1	0	15	550					A	15938174	G	A	15938174	3	1	79	1	0	0	0	0	1	0	0	0	10277	1145	40	1	290	1	NCOR1	17	15938174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318126	15938174	65257036	16967	27284											
NCOR1	9611	broad.mit.edu	37	chr17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T													ttgatgtggagcaggctgaaGgacttttaaaaggaaagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1007	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGGCTGAAGGACTTTTAAA	0.428																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3019-3021)Ctt>Att		nuclear receptor corepressor 1							62	63	63					17																	15989754		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989754G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3019C>A	17.37:g.15989754G>T	ENSP00000268712:p.Leu1007Ile					NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	p.L1007I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3276	-			1007			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3019C>A	CCDS11175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162501|3.162501	0.57368|0.57368	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.85171|.	-1.95;-1.95|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55940|0.55940	0.1952|0.1952	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.629;0.745|.	D;B;P|.	0.72625|.	0.978;0.212;0.504|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.11485|.	T|.	0.65|.	-7.6952|-7.6952	17.5022|17.5022	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	914;1007;1023|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	I|H	1007;1023;914|78	ENSP00000268712:L1007I;ENSP00000379192:L1023I|.	ENSP00000268712:L1007I|.	L|P	-|-	1|2	0|0	NCOR1|NCOR1	15930479|15930479	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.833000|0.833000	0.47200|0.47200	5.911000|5.911000	0.69939|0.69939	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	CTT|CCT		0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		51	173	1	0	6.08268e-21	1	6.83416e-21	51	173					T	15989754	G	T	15989754	3	4	79	1	0	0	0	0	1	0	0	0	10277	1000	35	3	4399	3	NCOR1	17	15989754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51580	15989754	65205456	16968	27285	174	2									
NCOR1	9611	broad.mit.edu	37	chr17	15989758	15989758	+	Splice_Site	SNP	T	T	G													tgtggagcaggctgaaggacTtttaaaaggaaagaaaaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGAAGGACTTTTAAAAGGA	0.418																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.e23-2		nuclear receptor corepressor 1							58	59	59					17																	15989758		2203	4300	6503	SO:0001630	splice_region_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989758T>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3017-2A>C	17.37:g.15989758T>G						NCOR1_ENST00000395851.1_Splice_Site		NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3274	-								B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	ENST00000268712.3	37		CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654394	0.67472	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000436068	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1246	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15930483	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.235000	0.72332	2.272000	0.75746	0.524000	0.50904	.		0.418	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	Intron	30	176	0	0	0	1	0	30	176					G	15989758	T	G	15989758	5	3	79	1	0	0	0	0	0	0	1	0	10277	1623	56	4	4403	4	NCOR1	17	15989758	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4	15989758	65205452	16969	27286	174	2									
NCOR1	9611	broad.mit.edu	37	chr17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgatccggcccttacGgcggccctgactgttggcag	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	581					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCCCTTACGGCGGCCCTGA	0.597																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1741-1743)Cgt>Tgt		nuclear receptor corepressor 1							76	80	79					17																	16024477		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16024477G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1741C>T	17.37:g.16024477G>A	ENSP00000268712:p.Arg581Cys					NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR	p.R581C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	16	1998	-			581					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1741C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524587	0.85600	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.33865	1.39;1.39;1.39	5.7	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.87578	0.863;0.556;0.998	T	0.59322	-0.7476	10	0.87932	D	0	-9.9335	14.0288	0.64601	0.0:0.0:0.5936:0.4064	.	472;581;581	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	C	581;581;472;472	ENSP00000268712:R581C;ENSP00000379192:R581C;ENSP00000379189:R472C	ENSP00000268712:R581C	R	-	1	0	NCOR1	15965202	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.895000	0.56258	0.268000	0.21939	0.655000	0.94253	CGT		0.597	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		138	626	0	0	0	1	0	138	626					A	16024477	G	A	16024477	3	1	79	1	0	0	0	0	1	0	0	0	10277	1116	39	1	5705	1	NCOR1	17	16024477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34719	16024477	65170733	16970	27287											
NCOR1	9611	broad.mit.edu	37	chr17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattctgtccacttttttcTcccatgcctccatgagctga	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	319	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CACTTTTTTCTCCCATGCCTC	0.343																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(955-957)gAg>gGg		nuclear receptor corepressor 1							113	106	108					17																	16049816		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16049816T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.956A>G	17.37:g.16049816T>C	ENSP00000268712:p.Glu319Gly					NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	p.E319G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	10	1213	-			319			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.956A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751672	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.44542	1.39	0.80722	D	1	D;D;D;P;D;D	0.89917	0.974;0.974;0.974;0.92;0.978;1.0	P;P;P;P;P;D	0.85130	0.776;0.776;0.776;0.573;0.867;0.997	D	0.87494	0.2429	10	0.87932	D	0	-11.7257	15.2981	0.73925	0.0:0.0:0.0:1.0	.	328;319;319;210;319;319	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	G	319;319;210;328;210;319;328	ENSP00000268712:E319G;ENSP00000379192:E319G;ENSP00000379189:E210G;ENSP00000407998:E319G;ENSP00000387727:E328G	ENSP00000268712:E319G	E	-	2	0	NCOR1	15990541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.270000	0.75569	0.459000	0.35465	GAG		0.343	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		65	251	0	0	0	1	0	65	251					C	16049816	T	C	16049816	3	2	79	1	0	0	0	0	1	0	0	0	10277	1551	54	4	6514	4	NCOR1	17	16049816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25339	16049816	65145394	16971	27288											
NCOR1	9611	broad.mit.edu	37	chr17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgttccagacgtggtcgCttcgattccagtgaatcatg	10	11	1	2	rs376695361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	107	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGGTCGCTTCGATTCCA	0.483																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(319-321)aaG>aaT		nuclear receptor corepressor 1							92	78	83					17																	16075231		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16075231C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.321G>T	17.37:g.16075231C>A	ENSP00000268712:p.Lys107Asn					NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	p.K107N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	4	578	-			107			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.321G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501099	0.26861	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.57436	0.4;1.06	5.81	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.995;0.996	T	0.65594	-0.6130	10	0.87932	D	0	-15.0086	8.382	0.32477	0.0:0.6346:0.0:0.3654	.	107;107;107;107;107;107	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	107	ENSP00000268712:K107N;ENSP00000379192:K107N	ENSP00000268712:K107N	K	-	3	2	NCOR1	16015956	0.999000	0.42202	0.342000	0.25602	0.745000	0.42441	0.576000	0.23744	0.384000	0.24942	-0.137000	0.14449	AAG		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		33	158	1	0	1.62565e-12	1	1.74646e-12	33	158					A	16075231	C	A	16075231	3	1	79	1	0	0	0	0	1	0	0	0	10277	796	28	3	7173	3	NCOR1	17	16075231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25415	16075231	65119979	16972	27289											
PIGL	9487	broad.mit.edu	37	chr17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttggcggtcttggcatgGggcttcctctgggtttggga	18	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000225609.5	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000395844.4_Nonsense_Mutation_p.W16*|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*|PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	16					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(46-48)tgG>tgA		phosphatidylinositol glycan anchor biosynthesis, class L							114	98	104					17																	16120588		2203	4300	6503	SO:0001587	stop_gained	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16120588G>A	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"Phosphatidylinositol glycan anchor biosynthesis"	8966	protein-coding gene	gene with protein product	"N-acetylglucosaminylphosphatidylinositol deacetylase"	605947	"phosphatidylinositol glycan, class L"			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.48G>A	17.37:g.16120588G>A	ENSP00000225609:p.Trp16*					PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000395844.3_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*	p.W16*	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	1	65	+			16					A8KA67|B4DYN4	Nonsense_Mutation	SNP	ENST00000225609.5	37	c.48G>A	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270030	0.59540	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.22	1.6	0.23607	.	0.885835	0.09977	N	0.731447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.0087	8.2005	0.31421	0.0:0.3186:0.5178:0.1636	.	.	.	.	X	16	.	ENSP00000225609:W16X	W	+	3	0	PIGL	16061313	0.237000	0.23815	0.030000	0.17652	0.199000	0.23934	1.056000	0.30480	1.146000	0.42352	0.655000	0.94253	TGG		0.612	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			50	261	0	0	0	1	0	50	261					A	16120588	G	A	16120588	4	1	79	1	0	0	0	0	0	1	0	0	11933	1241	43	2	50	2	PIGL	17	16120588	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	16120588	65074622	16973	27290											
PIGL	9487	broad.mit.edu	37	chr17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcctctgggtttgggactCctcagaacgaatgaagagtc	11	10	2	3	rs373994072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000225609.5	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000395844.4_Missense_Mutation_p.S24F|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F|PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	24					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(70-72)tCc>tTc		phosphatidylinositol glycan anchor biosynthesis, class L							109	98	102					17																	16120611		2203	4300	6503	SO:0001583	missense	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16120611C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"Phosphatidylinositol glycan anchor biosynthesis"	8966	protein-coding gene	gene with protein product	"N-acetylglucosaminylphosphatidylinositol deacetylase"	605947	"phosphatidylinositol glycan, class L"			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.71C>T	17.37:g.16120611C>T	ENSP00000225609:p.Ser24Phe					PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000395844.3_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F	p.S24F	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	1	88	+			24					A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	c.71C>T	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667515	0.29604	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78364	-1.1;-1.17	5.49	-1.33	0.09172	.	1.039030	0.07536	N	0.913102	T	0.60612	0.2282	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.09843	T	0.71	-0.3025	5.2966	0.15756	0.0:0.4091:0.1566:0.4343	.	24;24	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	F	24	ENSP00000225609:S24F;ENSP00000379185:S24F	ENSP00000225609:S24F	S	+	2	0	PIGL	16061336	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.094000	0.11094	0.016000	0.14998	0.655000	0.94253	TCC		0.587	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			69	255	0	0	0	1	0	69	255					T	16120611	C	T	16120611	3	4	79	1	0	0	0	0	1	0	0	0	11933	855	30	2	73	2	PIGL	17	16120611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	16120611	65074599	16974	27291											
PIGL	9487	broad.mit.edu	37	chr17	16216893	16216893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagggggagtaagtggCcacagcaatcacattgctct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000225609.5	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000395844.4_Silent_p.G153G|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Silent_p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	153					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(457-459)ggC>ggT		phosphatidylinositol glycan anchor biosynthesis, class L							238	204	215					17																	16216893		2203	4300	6503	SO:0001819	synonymous_variant	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16216893C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"Phosphatidylinositol glycan anchor biosynthesis"	8966	protein-coding gene	gene with protein product	"N-acetylglucosaminylphosphatidylinositol deacetylase"	605947	"phosphatidylinositol glycan, class L"			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.459C>T	17.37:g.16216893C>T						PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000395844.3_Silent_p.G153G|PIGL_ENST00000581006.1_Intron	p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	4	476	+			153					A8KA67|B4DYN4	Silent	SNP	ENST00000225609.5	37	c.459C>T	CCDS11176.1																																																																																				0.488	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			73	476	0	0	0	1	0	73	476					T	16216893	C	T	16216893	2	4	79	1	0	0	0	0	0	0	0	1	11933	726	26	2		2	PIGL	17	16216893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96282	16216893	64978317	16975	27292											
TRPV2	51393	broad.mit.edu	37	chr17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagtcaacctcaactacCgaaagggaacaggtgccagg	11	10	2	1	rs373733043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19562	0.0		0.0	False		,,,				2504	0.001					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(181-183)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33	32	32		181	-2.2	0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321163C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.181C>T	17.37:g.16321163C>T	ENSP00000342222:p.Arg61*					TRPV2_ENST00000577397.1_5'UTR	p.R61*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	580	+			61			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	c.181C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		23	156	0	0	0	1	0	23	156					T	16321163	C	T	16321163	4	4	79	1	0	0	0	0	0	1	0	0	16649	644	23	1	183	1	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104270	16321163	64874047	16976	27293											
TRPV2	51393	broad.mit.edu	37	chr17	16330045	16330045	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccccagcaccgacacCgaatggtcgttttggagccc	9	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330045C>T	ENST00000338560.7	+	7	1504	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	369	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCACCGACACCGAATGGTCGT	0.517																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1105-1107)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2							78	67	70					17																	16330045		2203	4300	6503	SO:0001587	stop_gained	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16330045C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1105C>T	17.37:g.16330045C>T	ENSP00000342222:p.Arg369*					TRPV2_ENST00000577397.1_Intron	p.R369*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	7	1504	+			369			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	c.1105C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.196707	0.99098	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.29	3.17	0.36434	.	0.277108	0.40144	N	0.001171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-42.5873	11.3436	0.49548	0.5677:0.4323:0.0:0.0	.	.	.	.	X	369	.	ENSP00000342222:R369X	R	+	1	2	TRPV2	16270770	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.131000	0.31406	1.251000	0.43983	-0.225000	0.12378	CGA		0.517	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		10	302	0	0	0	1	0	10	302					T	16330045	C	T	16330045	4	4	79	1	0	0	0	0	0	1	0	0	16649	644	23	1	1127	1	TRPV2	17	16330045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8882	16330045	64865165	16977	27294											
TRPV2	51393	broad.mit.edu	37	chr17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatgttcatcttcaccgCtgttgcctaccatcagccta	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	407					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTTCACCGCTGTTGCCTAC	0.532																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1219-1221)gCt>gTt		transient receptor potential cation channel, subfamily V, member 2							111	85	94					17																	16330160		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16330160C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1220C>T	17.37:g.16330160C>T	ENSP00000342222:p.Ala407Val					TRPV2_ENST00000577397.1_Intron	p.A407V	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	7	1619	+			407					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1220C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283833	0.23392	.	.	ENSG00000187688	ENST00000338560	D	0.88431	-2.38	5.78	4.58	0.56647	.	0.461480	0.25964	N	0.027178	T	0.76485	0.3994	N	0.12831	0.26	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.60667	-0.7218	10	0.20046	T	0.44	-28.5902	8.3753	0.32440	0.0:0.7901:0.0:0.2099	.	407	Q9Y5S1	TRPV2_HUMAN	V	407	ENSP00000342222:A407V	ENSP00000342222:A407V	A	+	2	0	TRPV2	16270885	0.000000	0.05858	0.001000	0.08648	0.582000	0.36321	0.516000	0.22817	1.105000	0.41606	0.557000	0.71058	GCT		0.532	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		60	268	0	0	0	1	0	60	268					T	16330160	C	T	16330160	3	4	79	1	0	0	0	0	1	0	0	0	16649	797	28	2	1242	2	TRPV2	17	16330160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	16330160	64865050	16978	27295											
TRPV2	51393	broad.mit.edu	37	chr17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggaggcttggcgccccGaagctcctacaggccccaat	12	16	0	0	rs372855524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000338560.7	+	12	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	564					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGGCGCCCCGAAGCTCCTAC	0.647																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1690-1692)Gaa>Aaa		transient receptor potential cation channel, subfamily V, member 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42	42	42		1690	-2.9	0	17		42	0,8600		0,0,4300	no	missense	TRPV2	NM_016113.4	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	564/765	16335315	1,13005	2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335315G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1690G>A	17.37:g.16335315G>A	ENSP00000342222:p.Glu564Lys					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	p.E564K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2089	+			564					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1690G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597432	0.28445	2.27E-4	0.0	ENSG00000187688	ENST00000338560	D	0.89552	-2.53	4.55	-2.93	0.05598	Ion transport (1);	4.637680	0.00397	N	0.000041	T	0.72676	0.3490	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68762	-0.5323	10	0.06891	T	0.86	-31.6603	5.3118	0.15835	0.445:0.1439:0.4112:0.0	.	564	Q9Y5S1	TRPV2_HUMAN	K	564	ENSP00000342222:E564K	ENSP00000342222:E564K	E	+	1	0	TRPV2	16276040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.404000	0.01045	-0.940000	0.03705	0.449000	0.29647	GAA		0.647	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		58	243	0	0	0	1	0	58	243					A	16335315	G	A	16335315	3	1	79	1	0	0	0	0	1	0	0	0	16649	1059	37	1	1732	1	TRPV2	17	16335315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	16335315	64859895	16979	27296											
TRPV2	51393	broad.mit.edu	37	chr17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgtgatgctgaccGttggcactaagccagatggc	16	9	0	3	rs543529432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2068-2070)Gtt>Att		transient receptor potential cation channel, subfamily V, member 2							140	121	127					17																	16336966		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336966G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2068G>A	17.37:g.16336966G>A	ENSP00000342222:p.Val690Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	p.V690I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2467	+			690					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2068G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT		0.592	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		86	414	0	0	0	1	0	86	414					A	16336966	G	A	16336966	3	1	79	1	0	0	0	0	1	0	0	0	16649	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1651	16336966	64858244	16980	27297											
TRPV2	51393	broad.mit.edu	37	chr17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatctgtttacaggaaCtctcgagaaccctgtcctgg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	733					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTACAGGAACTCTCGAGAAC	0.552																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2197-2199)aCt>aTt		transient receptor potential cation channel, subfamily V, member 2							186	160	169					17																	16340106		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16340106C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2198C>T	17.37:g.16340106C>T	ENSP00000342222:p.Thr733Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I	p.T733I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	15	2597	+			733					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2198C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	5.905	0.350976	0.11182	.	.	ENSG00000187688	ENST00000338560	D	0.88201	-2.35	3.73	0.454	0.16644	.	1.775310	0.03096	N	0.160447	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.61888	-0.6970	10	0.22109	T	0.4	-23.241	1.9786	0.03421	0.2164:0.4745:0.1926:0.1165	.	733	Q9Y5S1	TRPV2_HUMAN	I	733	ENSP00000342222:T733I	ENSP00000342222:T733I	T	+	2	0	TRPV2	16280831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	0.141000	0.18875	0.561000	0.74099	ACT		0.552	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		96	465	0	0	0	1	0	96	465					T	16340106	C	T	16340106	3	4	79	1	0	0	0	0	1	0	0	0	16649	565	20	2	2252	2	TRPV2	17	16340106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3140	16340106	64855104	16981	27298											
C17orf76	388341	broad.mit.edu	37	chr17	16365615	16365615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggctgatgatgaggTcgtgtgtgatggggtccacc	17	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16365615T>G	ENST00000409083.3	-	2	494	c.332A>C	c.(331-333)gAc>gCc	p.D111A	C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111A|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						GATGATGAGGTCGTGTGTGAT	0.627																																						ENST00000409083.3																			0				lung(1)	1						c.(331-333)gAc>gCc		family with sequence similarity 211, member A							186	139	155					17																	16365615		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16365615T>G																												ENST00000409083.3:c.332A>C	17.37:g.16365615T>G	ENSP00000386504:p.Asp111Ala					C17orf76-AS1_ENST00000478103.2_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111A|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	p.D111A	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN			2	494	-			111						Missense_Mutation	SNP	ENST00000409083.3	37	c.332A>C	CCDS11178.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467571	0.84533	.	.	ENSG00000181350	ENST00000409083;ENST00000470794	T	0.58060	0.36	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	L	0.57536	1.79	0.48511	D	0.999669	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.951	T	0.69815	-0.5043	10	0.87932	D	0	.	11.5248	0.50573	0.0:0.0:0.0:1.0	.	111;111	Q8NAA5;Q8NAA5-2	CQ076_HUMAN;.	A	111	ENSP00000419502:D111A	ENSP00000386504:D111A	D	-	2	0	C17orf76	16306340	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.285000	0.78660	1.912000	0.55364	0.402000	0.26972	GAC		0.627	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			19	158	0	0	0	1	0	19	158					G	16365615	T	G	16365615	3	3	79	1	0	0	0	0	1	0	0	0	1887	1667	58	4	714	4	C17orf76	17	16365615	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25509	16365615	64829595	16982	27299											
ZNF287	57336	broad.mit.edu	37	chr17	16455434	16455434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcattacatttatagggTttttctccagtatgaatcct	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	667					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTATAGGGTTTTTCTCCAG	0.348																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(2020-2022)aaA>aaG		zinc finger protein 287							88	87	87					17																	16455434		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455434T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2022A>G	17.37:g.16455434T>C						ZNF287_ENST00000395825.3_Silent_p.K674K	p.K674K			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2639	-			667					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.2022A>G	CCDS11179.2																																																																																				0.348	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			76	241	0	0	0	1	0	76	241					C	16455434	T	C	16455434	2	2	79	1	0	0	0	0	0	0	0	1	17878	1722	60	4		4	ZNF287	17	16455434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	89819	16455434	64739776	16983	27300											
ZNF287	57336	broad.mit.edu	37	chr17	16456289	16456289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatttctctttggcatgGgtactttggtgtttcaggag	12	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	382					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTGGCATGGGTACTTTGGT	0.398																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1165-1167)acC>acT		zinc finger protein 287							167	156	160					17																	16456289		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456289G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1167C>T	17.37:g.16456289G>A						ZNF287_ENST00000395825.3_Silent_p.T389T	p.T389T			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1784	-			382					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1167C>T	CCDS11179.2																																																																																				0.398	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			160	647	0	0	0	1	0	160	647					A	16456289	G	A	16456289	2	1	79	1	0	0	0	0	0	0	0	1	17878	1219	43	2		2	ZNF287	17	16456289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	16456289	64738921	16984	27301											
ZNF624	57547	broad.mit.edu	37	chr17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctcaccgtcacccatgGtcctttcccattctccaaat	3	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	112	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCACCCATGGTCCTTTCCCA	0.413																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(334-336)Cca>Tca		zinc finger protein 624							93	83	86					17																	16537218		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16537218G>A	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.334C>T	17.37:g.16537218G>A	ENSP00000310472:p.Pro112Ser					ZNF624_ENST00000579983.1_5'UTR	p.P112S	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	425	-			112			KRAB.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.334C>T	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194827	0.22037	.	.	ENSG00000197566	ENST00000311331	T	0.08282	3.11	3.63	2.65	0.31530	Krueppel-associated box (2);	.	.	.	.	T	0.20780	0.0500	L	0.59967	1.855	0.23673	N	0.997146	D	0.89917	1.0	D	0.79108	0.992	T	0.03695	-1.1012	9	0.36615	T	0.2	.	8.7679	0.34713	0.118:0.0:0.882:0.0	.	112	Q9P2J8	ZN624_HUMAN	S	112	ENSP00000310472:P112S	ENSP00000310472:P112S	P	-	1	0	ZNF624	16477943	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	3.196000	0.51020	2.046000	0.60703	0.591000	0.81541	CCA		0.413	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		19	176	0	0	0	1	0	19	176					A	16537218	G	A	16537218	3	1	79	1	0	0	0	0	1	0	0	0	18101	1261	44	2	2271	2	ZNF624	17	16537218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80929	16537218	64657992	16985	27302											
CCDC144A	9720	broad.mit.edu	37	chr17	16593733	16593733	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatggcctcctggggtggaGaaaagcggggaggggctgag	21	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16593733G>T	ENST00000360524.8	+	1	95	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	7																	CTGGGGTGGAGAAAAGCGGGG	0.647																																						ENST00000443444.2																			0											c.(19-21)Gaa>Taa		coiled-coil domain containing 144A							11	14	13					17																	16593733		2193	4288	6481	SO:0001587	stop_gained	9720							g.chr17:16593733G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.19G>T	17.37:g.16593733G>T	ENSP00000353717:p.Glu7*					RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*	p.E7*			A2RUR9	C144A_HUMAN			1	159	+			7					O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	c.19G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.201266	0.58234	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.	.	.	0.542	-0.614	0.11590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	.	.	.	.	.	.	.	X	7	.	ENSP00000344740:E7X	E	+	1	0	CCDC144A	16534458	0.316000	0.24580	0.001000	0.08648	0.041000	0.13682	0.199000	0.17237	-0.291000	0.09012	0.398000	0.26397	GAA		0.647	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			20	80	1	0	1.10513e-12	1	1.18868e-12	20	80					T	16593733	G	T	16593733	4	4	79	1	0	0	0	0	0	1	0	0	2784	943	33	3	21	3	CCDC144A	17	16593733	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56515	16593733	64601477	16986	27303											
CCDC144A	9720	broad.mit.edu	37	chr17	16594033	16594033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcctggagacactggcGtggacaagagggataggaag	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16594033G>A	ENST00000360524.8	+	1	395	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Missense_Mutation_p.V107M|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	107																	AGACACTGGCGTGGACAAGAG	0.652																																						ENST00000443444.2																			0											c.(319-321)Gtg>Atg		coiled-coil domain containing 144A							121	128	126					17																	16594033		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594033G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.319G>A	17.37:g.16594033G>A	ENSP00000353717:p.Val107Met					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M	p.V107M			A2RUR9	C144A_HUMAN			1	459	+			107					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.319G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.800	-0.249347	0.05867	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75	0.542	-1.08	0.09936	.	.	.	.	.	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.23797	-1.0178	8	0.41790	T	0.15	.	.	.	.	.	107	A2RUR9	C144A_HUMAN	M	107	ENSP00000344740:V107M;ENSP00000382215:V107M;ENSP00000439262:V107M;ENSP00000440655:V107M;ENSP00000353717:V107M;ENSP00000394201:V107M;ENSP00000353685:V107M	ENSP00000344740:V107M	V	+	1	0	CCDC144A	16534758	0.749000	0.28305	0.009000	0.14445	0.004000	0.04260	-0.912000	0.04046	-0.411000	0.07530	-0.779000	0.03376	GTG		0.652	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			210	1002	0	0	0	1	0	210	1002					A	16594033	G	A	16594033	3	1	79	1	0	0	0	0	1	0	0	0	2784	1145	40	1	321	1	CCDC144A	17	16594033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300	16594033	64601177	16987	27304											
CCDC144A	9720	broad.mit.edu	37	chr17	16612399	16612399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgacaaataacatacctgGttgtgaggaagaagatgcat	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16612399G>A	ENST00000360524.8	+	5	1104	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.G343D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	343																	AACATACCTGGTTGTGAGGAA	0.383																																						ENST00000443444.2																			0											c.(1027-1029)gGt>gAt		coiled-coil domain containing 144A							34	33	33					17																	16612399		1804	4040	5844	SO:0001583	missense	9720							g.chr17:16612399G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1028G>A	17.37:g.16612399G>A	ENSP00000353717:p.Gly343Asp					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G343D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D	p.G343D			A2RUR9	C144A_HUMAN			5	1168	+			343					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1028G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.033	-0.422021	0.04734	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.26	-0.0891	0.13670	.	.	.	.	.	T	0.08891	0.0220	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.22836	-1.0205	8	.	.	.	.	4.2586	0.10730	0.7666:0.0:0.2334:0.0	.	343	A2RUR9	C144A_HUMAN	D	342;343;343;343;343;343	ENSP00000344740:G342D;ENSP00000382215:G343D;ENSP00000439262:G343D;ENSP00000440655:G343D;ENSP00000353717:G343D;ENSP00000353685:G343D	.	G	+	2	0	CCDC144A	16553124	0.011000	0.17503	0.285000	0.24819	0.113000	0.19764	0.692000	0.25482	-0.236000	0.09753	0.175000	0.17021	GGT		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			63	309	0	0	0	1	0	63	309					A	16612399	G	A	16612399	3	1	79	1	0	0	0	0	1	0	0	0	2784	1261	44	2	1046	2	CCDC144A	17	16612399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18366	16612399	64582811	16988	27305											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacggggccttgagcggggCtggcaggagcagggatcccc	19	11	0	2	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000261652.2	-	4	600	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	196					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(448-450)caG>caT		tumor necrosis factor receptor superfamily, member 13B							88	92	91					17																	16843683		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843683C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.588G>T	17.37:g.16843683C>A	ENSP00000261652:p.Gln196His					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.Q196H	p.Q150H			O14836	TR13B_HUMAN			3	458	-			196					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.450G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007064	0.19199	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94092	-3.35;-3.33	3.43	3.43	0.39272	.	0.131984	0.34531	N	0.003899	D	0.94584	0.8255	M	0.66939	2.045	0.30740	N	0.746256	D;D	0.71674	0.998;0.997	P;P	0.61477	0.889;0.778	D	0.91783	0.5437	10	0.40728	T	0.16	-6.7321	10.6958	0.45899	0.0:1.0:0.0:0.0	rs56248318	150;196	O14836-2;O14836	.;TR13B_HUMAN	H	150;196	ENSP00000413453:Q150H;ENSP00000261652:Q196H	ENSP00000261652:Q196H	Q	-	3	2	TNFRSF13B	16784408	0.931000	0.31567	0.330000	0.25442	0.016000	0.09150	1.717000	0.37991	1.628000	0.50416	0.558000	0.71614	CAG		0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			100	493	1	0	1.10825e-40	1	1.34457e-40	100	493					A	16843683	C	A	16843683	3	1	79	1	0	0	0	0	1	0	0	0	16339	796	28	3	301	3	TNFRSF13B	17	16843683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231284	16843683	64351527	16989	27306											
FLCN	201163	broad.mit.edu	37	chr17	17122372	17122372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttgaagactggcagcttCcggggctgccagctcccaca	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	341					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1021-1023)cgG>cgA		folliculin							37	48	44					17																	17122372		2202	4300	6502	SO:0001819	synonymous_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17122372C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1023G>A	17.37:g.17122372C>T						RP11-45M22.4_ENST00000427497.3_Intron	p.R341R	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			9	1477	-			341					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.1023G>A	CCDS32579.1																																																																																				0.652	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		147	516	0	0	0	1	0	147	516					T	17122372	C	T	17122372	2	4	79	1	0	0	0	0	0	0	0	1	5946	842	30	2		2	FLCN	17	17122372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278689	17122372	64072838	16990	27307											
FLCN	201163	broad.mit.edu	37	chr17	17124912	17124912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttccaggagcttctcGgtcagccggctgccacacgc	11	17	2	0	rs372342796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	270					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.0		0.0	False		,,,				2504	0.001					ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(808-810)acC>acT		folliculin		G	,	0,4406		0,0,2203	29	28	28		810,810	-12.2	0	17		28	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLCN	NM_144606.5,NM_144997.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	270/343,270/580	17124912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17124912G>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.810C>T	17.37:g.17124912G>A						FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	p.T270T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			8	1264	-			270					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.810C>T	CCDS32579.1																																																																																				0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		55	222	0	0	0	1	0	55	222					A	17124912	G	A	17124912	2	1	79	1	0	0	0	0	0	0	0	1	5946	1103	39	1		1	FLCN	17	17124912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2540	17124912	64070298	16991	27308											
FLCN	201163	broad.mit.edu	37	chr17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgtgcagaagagagtgCgggggccgtggagctcgcag	18	11	0	2	rs398124537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	17					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(49-51)cGc>cAc		folliculin							60	44	49					17																	17131402		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17131402C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.50G>A	17.37:g.17131402C>T	ENSP00000285071:p.Arg17His					FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			4	504	-			17					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.50G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426711	0.62733	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.93547	-3.24;-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.899	D	0.95876	0.8895	10	0.66056	D	0.02	-12.8119	18.4682	0.90763	0.0:1.0:0.0:0.0	.	17;17;17	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	17	ENSP00000285071:R17H;ENSP00000373821:R17H	ENSP00000285071:R17H	R	-	2	0	FLCN	17072127	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.606000	0.88127	0.655000	0.94253	CGC		0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		46	193	0	0	0	1	0	46	193					T	17131402	C	T	17131402	3	4	79	1	0	0	0	0	1	0	0	0	5946	768	27	1	1891	1	FLCN	17	17131402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6490	17131402	64063808	16992	27309											
NT5M	56953	broad.mit.edu	37	chr17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccattctggacagcaagcGgccctgctgagctggactgt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	226					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682																																						ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(676-678)cGg>cAg		5',3'-nucleotidase, mitochondrial							37	44	41					17																	17250251		2203	4300	6503	SO:0001583	missense	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250251G>A	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.677G>A	17.37:g.17250251G>A	ENSP00000373674:p.Arg226Gln					NT5M_ENST00000582909.1_3'UTR	p.R226Q	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	893	+			226						Missense_Mutation	SNP	ENST00000389022.4	37	c.677G>A	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.030203|5.030203	0.93575|0.93575	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.46451	.|0.87	5.79|5.79	5.79|5.79	0.91817|0.91817	.|HAD-like domain (2);	0.238680|.	0.46758|.	D|.	0.000264|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.75447|0.75447	2.3|2.3	0.30268|0.30268	N|N	0.792551|0.792551	D|D;D	0.76494|0.89917	0.999|1.0;1.0	P|D;D	0.59115|0.97110	0.852|0.99;1.0	T|T	0.66968|0.66968	-0.5789|-0.5789	9|9	0.87932|0.87932	D|D	0|0	-6.3164|-6.3164	16.7638|16.7638	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225|232;226	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	S|Q	225|226	.|ENSP00000373674:R226Q	ENSP00000390695:G225S|ENSP00000373674:R226Q	G|R	+|+	1|2	0|0	NT5M|NT5M	17190976|17190976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.604000|0.604000	0.37047|0.37047	8.364000|8.364000	0.90105|0.90105	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.682	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			42	241	0	0	0	1	0	42	241					A	17250251	G	A	17250251	3	1	79	1	0	0	0	0	1	0	0	0	10736	1116	39	1	695	1	NT5M	17	17250251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118849	17250251	63944959	16993	27310											
MED9	55090	broad.mit.edu	37	chr17	17380439	17380439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctgcctgacaccaaGccgctgccgcctcctcagcc	9	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	28	Pro-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(82-84)aaG>aaA		mediator complex subunit 9							12	14	13					17																	17380439		2191	4278	6469	SO:0001819	synonymous_variant	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17380439G>A	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.84G>A	17.37:g.17380439G>A						MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Silent_p.K28K	p.K28K	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			1	140	+			28			Pro-rich.			Silent	SNP	ENST00000268711.3	37	c.84G>A	CCDS11184.1																																																																																				0.721	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		36	94	0	0	0	1	0	36	94					A	17380439	G	A	17380439	2	1	79	1	0	0	0	0	0	0	0	1	9495	962	34	2		2	MED9	17	17380439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130188	17380439	63814771	16994	27311											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		8	702						8	702	---	---	---	---	-	17394707	CAG	-	17394705	7	5	79	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	14266	17394705	63800505	16995	27312											
RASD1	51655	broad.mit.edu	37	chr17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggatggagtagaacttgCggtggaagtcctcgatggta	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000225688.3	-	1	396	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	62					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(184-186)cGc>cAc		RAS, dexamethasone-induced 1							140	120	127					17																	17399311		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399311C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.185G>A	17.37:g.17399311C>T	ENSP00000225688:p.Arg62His					RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			1	396	-			62					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.185G>A	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598634	0.66332	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90983	0.4829	10	0.56958	D	0.05	.	16.8723	0.86043	0.0:1.0:0.0:0.0	.	62	Q9Y272	RASD1_HUMAN	H	62	ENSP00000225688:R62H	ENSP00000225688:R62H	R	-	2	0	RASD1	17340036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.199000	0.70637	0.655000	0.94253	CGC		0.647	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		18	422	0	0	0	1	0	18	422					T	17399311	C	T	17399311	3	4	79	1	0	0	0	0	1	0	0	0	13116	768	27	1	668	1	RASD1	17	17399311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4606	17399311	63795899	16996	27313											
RAI1	10743	broad.mit.edu	37	chr17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcctgcaggggaggcCggctttccctggctacggcg	17	13	0	0	rs370882080	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	95					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGGGAGGCCGGCTTTCCCT	0.711													C|||	3	0.000599042	0.0	0.0	5008	,	,		12657	0.002		0.0	False		,,,				2504	0.001					ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(283-285)cCg>cTg		retinoic acid induced 1							12	13	13					17																	17696546		2196	4282	6478	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696546C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.284C>T	17.37:g.17696546C>T	ENSP00000323074:p.Pro95Leu					RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	753	+			95					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.284C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034783	0.19590	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.27;0.12	4.55	4.55	0.56014	.	0.292981	0.29602	N	0.011692	T	0.57562	0.2062	M	0.63843	1.955	0.41446	D	0.987957	P	0.39404	0.672	B	0.28553	0.091	T	0.66188	-0.5986	10	0.87932	D	0	.	10.6015	0.45369	0.0:0.9094:0.0:0.0906	.	95	Q7Z5J4	RAI1_HUMAN	L	95	ENSP00000323074:P95L;ENSP00000379120:P95L;ENSP00000261641:P95L	ENSP00000261641:P95L	P	+	2	0	RAI1	17637271	0.826000	0.29277	0.977000	0.42913	0.329000	0.28539	1.841000	0.39240	2.074000	0.62210	0.462000	0.41574	CCG		0.711	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		25	131	0	0	0	1	0	25	131					T	17696546	C	T	17696546	3	4	79	1	0	0	0	0	1	0	0	0	13057	652	23	1	286	1	RAI1	17	17696546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297235	17696546	63498664	16997	27314											
RAI1	10743	broad.mit.edu	37	chr17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggactccaaggccggctGgggctctccgtgccacctct	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	914					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGGCCGGCTGGGGCTCTCCG	0.647																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2740-2742)tGg>tAg		retinoic acid induced 1							39	36	37					17																	17699003		2203	4300	6503	SO:0001587	stop_gained	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699003G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2741G>A	17.37:g.17699003G>A	ENSP00000323074:p.Trp914*					RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3210	+			914					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	37	c.2741G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.888434	0.98545	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.77	4.77	0.60923	.	0.381141	0.25132	N	0.032885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.0033	0.53243	0.0:0.2341:0.7659:0.0	.	.	.	.	X	914;914;914;914;914;866	.	ENSP00000261641:W914X	W	+	2	0	RAI1	17639728	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.711000	0.54868	2.222000	0.72286	0.313000	0.20887	TGG		0.647	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		42	177	0	0	0	1	0	42	177					A	17699003	G	A	17699003	4	1	79	1	0	0	0	0	0	1	0	0	13057	1357	47	2	2743	2	RAI1	17	17699003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2457	17699003	63496207	16998	27315											
RAI1	10743	broad.mit.edu	37	chr17	17700276	17700276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgcagaagatcacctcGcccagcctcaagaagttcgc	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1338					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGATCACCTCGCCCAGCCTCA	0.627																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4012-4014)tcG>tcA		retinoic acid induced 1							63	72	69					17																	17700276		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700276G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4014G>A	17.37:g.17700276G>A						RAI1_ENST00000261641.6_Silent_p.S1338S	p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4483	+			1338					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4014G>A	CCDS11188.1																																																																																				0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		162	622	0	0	0	1	0	162	622					A	17700276	G	A	17700276	2	1	79	1	0	0	0	0	0	0	0	1	13057	1074	38	1		1	RAI1	17	17700276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1273	17700276	63494934	16999	27316											
RAI1	10743	broad.mit.edu	37	chr17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtaaatgtgggcaccGggcagaagctcccaacttct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1388					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTGGGCACCGGGCAGAAGCT	0.532																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4162-4164)Ggg>Agg		retinoic acid induced 1							78	84	82					17																	17700424		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700424G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4162G>A	17.37:g.17700424G>A	ENSP00000323074:p.Gly1388Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4631	+			1388					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4162G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459148	0.43634	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69040	-0.37;0.2	5.09	4.12	0.48240	.	0.395398	0.23748	N	0.044943	T	0.61726	0.2370	L	0.51422	1.61	0.34082	D	0.659737	D	0.60160	0.987	P	0.45377	0.478	T	0.73404	-0.3993	10	0.66056	D	0.02	.	9.2067	0.37293	0.077:0.0:0.7775:0.1455	.	1388	Q7Z5J4	RAI1_HUMAN	R	1388;1388;1388;1340	ENSP00000323074:G1388R;ENSP00000261641:G1388R	ENSP00000261641:G1388R	G	+	1	0	RAI1	17641149	0.998000	0.40836	0.946000	0.38457	0.577000	0.36160	3.398000	0.52579	1.130000	0.42092	0.462000	0.41574	GGG		0.532	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		92	506	0	0	0	1	0	92	506					A	17700424	G	A	17700424	3	1	79	1	0	0	0	0	1	0	0	0	13057	1116	39	1	4164	1	RAI1	17	17700424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	17700424	63494786	17000	27317											
RAI1	10743	broad.mit.edu	37	chr17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttctcacccttcgtgCgggtggagaagcgagacgcg	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1600					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCCTTCGTGCGGGTGGAGAA	0.617																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4798-4800)Cgg>Tgg		retinoic acid induced 1							84	94	91					17																	17701060		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701060C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4798C>T	17.37:g.17701060C>T	ENSP00000323074:p.Arg1600Trp					RAI1_ENST00000261641.6_Intron	p.R1600W	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5267	+			1600					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4798C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395284	0.62066	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.70164	-0.46	4.56	4.56	0.56223	.	0.198489	0.35615	N	0.003089	T	0.76328	0.3972	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.79200	-0.1901	10	0.72032	D	0.01	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	1600	Q7Z5J4	RAI1_HUMAN	W	1600;1600;1488	ENSP00000323074:R1600W	ENSP00000322928:R1488W	R	+	1	2	RAI1	17641785	0.997000	0.39634	1.000000	0.80357	0.754000	0.42855	3.915000	0.56409	2.387000	0.81309	0.561000	0.74099	CGG		0.617	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		138	724	0	0	0	1	0	138	724					T	17701060	C	T	17701060	3	4	79	1	0	0	0	0	1	0	0	0	13057	759	27	1	4800	1	RAI1	17	17701060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636	17701060	63494150	17001	27318											
SREBF1	6720	broad.mit.edu	37	chr17	17722393	17722393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgatggaggagcggtaGcgcttctcaatggcgttgtg	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17722393G>A	ENST00000261646.5	-	5	1186	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000355815.4_Silent_p.R364R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000395757.1_Silent_p.R80R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	334	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGAGCGGTAGCGCTTCTCAA	0.612																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1090-1092)cgC>cgT		sterol regulatory element binding transcription factor 1							98	90	93					17																	17722393		2203	4300	6503	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722393G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1002C>T	17.37:g.17722393G>A						SREBF1_ENST00000261646.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000395757.1_Silent_p.R80R|SREBF1_ENST00000338854.5_Silent_p.R334R	p.R364R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			6	1261	-			334			Helix-loop-helix motif.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.1092C>T	CCDS11189.1																																																																																				0.612	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		11	442	0	0	0	1	0	11	442					A	17722393	G	A	17722393	2	1	79	1	0	0	0	0	0	0	0	1	15193	958	34	2		2	SREBF1	17	17722393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21333	17722393	63472817	17002	27319											
SREBF1	6720	broad.mit.edu	37	chr17	17723477	17723477	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcggtggggctggggcTgggaagctctgtggcaggag	21	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17723477T>G	ENST00000261646.5	-	2	634	c.450A>C	c.(448-450)ccA>ccC	p.P150P	SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000355815.4_Silent_p.P180P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000395757.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	150	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGCTGGGGCTGGGAAGCTCT	0.667																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(538-540)ccA>ccC		sterol regulatory element binding transcription factor 1							19	23	21					17																	17723477		2200	4292	6492	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17723477T>G	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.450A>C	17.37:g.17723477T>G						SREBF1_ENST00000261646.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000338854.5_Silent_p.P150P	p.P180P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			3	709	-			150					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.540A>C	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960746	0.18583	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12785	-1.0534	4	.	.	.	-0.7168	2.8146	0.05452	0.248:0.381:0.25:0.121	.	.	.	.	R	158	.	.	S	-	1	0	SREBF1	17664202	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.339000	0.02652	-2.550000	0.00480	0.454000	0.30748	AGC		0.667	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		5	206	0	0	0	1	0	5	206					G	17723477	T	G	17723477	2	3	79	1	0	0	0	0	0	0	0	1	15193	1567	55	4		4	SREBF1	17	17723477	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1084	17723477	63471733	17003	27320											
TOM1L2	146691	broad.mit.edu	37	chr17	17764838	17764838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcagaagcaagtcctccGacagcctgaggatcctcata	10	12	1	2	rs117929409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000379504.3	-	12	1313	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000581396.1_Silent_p.V360V|TOM1L2_ENST00000535933.1_Silent_p.V357V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	410					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAAGTCCTCCGACAGCCTGAG	0.507																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1078-1080)gtC>gtT		target of myb1-like 2 (chicken)							87	81	83					17																	17764838		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17764838G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1230C>T	17.37:g.17764838G>A						TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000379504.3_Silent_p.V410V|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000542206.1_Silent_p.V262V	p.V360V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			11	1176	-	all_neural(463;0.228)		410					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.1080C>T	CCDS42270.1																																																																																				0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			20	216	0	0	0	1	0	20	216					A	17764838	G	A	17764838	2	1	79	1	0	0	0	0	0	0	0	1	16405	1045	37	1		1	TOM1L2	17	17764838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41361	17764838	63430372	17004	27321											
TOM1L2	146691	broad.mit.edu	37	chr17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgccactgacgctcTctgtccccaagtctgtggca	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000379504.3	-	11	1180	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	366					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACTGACGCTCTCTGTCCCCAA	0.537																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(946-948)gAg>gTg		target of myb1-like 2 (chicken)							118	111	114					17																	17766150		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766150T>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1097A>T	17.37:g.17766150T>A	ENSP00000368818:p.Glu366Val					TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E366V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V	p.E316V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1043	-	all_neural(463;0.228)		366					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.947A>T	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453805	0.63290	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.47869	1.85;1.84;1.83;1.82;0.83	5.88	5.88	0.94601	.	0.480039	0.25726	N	0.028717	T	0.46870	0.1415	N	0.14661	0.345	0.45528	D	0.998487	B;P;P;P;P;P	0.52170	0.052;0.951;0.774;0.497;0.712;0.883	B;P;B;B;B;B	0.55871	0.057;0.786;0.265;0.162;0.247;0.33	T	0.44498	-0.9324	10	0.33141	T	0.24	-10.1202	16.2879	0.82732	0.0:0.0:0.0:1.0	.	268;218;313;321;366;316	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	V	366;316;321;313;268;218	ENSP00000368818:E366V;ENSP00000379088:E321V;ENSP00000438621:E313V;ENSP00000437655:E268V;ENSP00000445188:E218V	ENSP00000312860:E316V	E	-	2	0	TOM1L2	17706875	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.866000	0.87056	2.242000	0.73789	0.533000	0.62120	GAG		0.537	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			13	506	0	0	0	1	0	13	506					A	17766150	T	A	17766150	3	1	79	1	0	0	0	0	1	0	0	0	16405	1551	54	5	446	5	TOM1L2	17	17766150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1312	17766150	63429060	17005	27322											
LRRC48	83450	broad.mit.edu	37	chr17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggagatgcagctggtgGagcagctggaggtaaggctg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000399187.1	+	10	1338	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	374						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1120-1122)Gag>Aag		leucine rich repeat containing 48							61	61	61					17																	17907797		2151	4267	6418	SO:0001583	missense	83450					cytoplasm		g.chr17:17907797G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1120G>A	17.37:g.17907797G>A	ENSP00000382140:p.Glu374Lys					LRRC48_ENST00000399187.1_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K	p.E374K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN			11	1499	+	all_neural(463;0.228)		374					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1120G>A	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311348	0.95655	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.26	5.26	0.73747	.	0.270549	0.41605	N	0.000849	T	0.52256	0.1723	M	0.76838	2.35	0.80722	D	1	P;P	0.45283	0.773;0.855	B;B	0.41510	0.127;0.359	T	0.54596	-0.8270	10	0.23891	T	0.37	-29.2984	17.6257	0.88093	0.0:0.0:1.0:0.0	.	374;374	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	374	ENSP00000326870:E374K;ENSP00000394020:E374K;ENSP00000382140:E374K;ENSP00000382136:E374K	ENSP00000326870:E374K	E	+	1	0	LRRC48	17848522	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.917000	0.63369	2.432000	0.82394	0.655000	0.94253	GAG		0.552	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		12	63	0	0	0	1	0	12	63					A	17907797	G	A	17907797	3	1	79	1	0	0	0	0	1	0	0	0	9043	1175	41	2	1150	2	LRRC48	17	17907797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141647	17907797	63287413	17006	27323											
DRG2	1819	broad.mit.edu	37	chr17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgccaacatccagctcctgGaccttcctggaatcattgaa	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000225729.3	+	4	481	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_ENST00000395726.4_Missense_Mutation_p.D115N|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	115	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(343-345)Gac>Aac		developmentally regulated GTP binding protein 2							111	102	105					17																	18002358		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18002358G>A	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.343G>A	17.37:g.18002358G>A	ENSP00000225729:p.Asp115Asn					DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N	p.D115N	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			4	481	+	all_neural(463;0.228)		115			G.		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.343G>A	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647216	0.67358	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.73047	-0.71;-0.71	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.99961	5.07	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	0.96686	0.9507	10	0.87932	D	0	-18.123	18.4054	0.90533	0.0:0.0:1.0:0.0	.	115;115;115	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	N	115	ENSP00000379076:D115N;ENSP00000225729:D115N	ENSP00000225729:D115N	D	+	1	0	DRG2	17943083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GAC		0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		65	374	0	0	0	1	0	65	374					A	18002358	G	A	18002358	3	1	79	1	0	0	0	0	1	0	0	0	4778	1174	41	2	357	2	DRG2	17	18002358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94561	18002358	63192852	17007	27324											
DRG2	1819	broad.mit.edu	37	chr17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcagctgcggcatgaAgctgaacctggactatctgc	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000225729.3	+	10	956	c.818A>C	c.(817-819)aAg>aCg	p.K273T	DRG2_ENST00000395726.4_Missense_Mutation_p.K273T|DRG2_ENST00000583355.1_Missense_Mutation_p.E79D	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	273	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(817-819)aAg>aCg		developmentally regulated GTP binding protein 2							125	115	119					17																	18007126		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18007126A>C	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.818A>C	17.37:g.18007126A>C	ENSP00000225729:p.Lys273Thr					DRG2_ENST00000583355.1_Missense_Mutation_p.E79D|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T	p.K273T	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			10	956	+	all_neural(463;0.228)		273					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.818A>C	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546066	0.65198	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18657	2.2;2.2	5.33	5.33	0.75918	.	0.129729	0.64402	D	0.000002	T	0.30386	0.0763	M	0.86028	2.79	0.30455	N	0.77487	B;B	0.29862	0.259;0.072	B;B	0.24701	0.055;0.034	T	0.31447	-0.9943	10	0.36615	T	0.2	-19.2294	15.2684	0.73681	1.0:0.0:0.0:0.0	.	273;273	A8MZF9;P55039	.;DRG2_HUMAN	T	273	ENSP00000379076:K273T;ENSP00000225729:K273T	ENSP00000225729:K273T	K	+	2	0	DRG2	17947851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.003000	0.58678	0.459000	0.35465	AAG		0.572	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		90	459	0	0	0	1	0	90	459					C	18007126	A	C	18007126	3	2	79	1	0	0	0	0	1	0	0	0	4778	72	3	4	856	4	DRG2	17	18007126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	18007126	63188084	17008	27325											
MYO15A	51168	broad.mit.edu	37	chr17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatccgcttcccaggcCgccgtggctacggccgcctg	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	114					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCCAGGCCGCCGTGGCTA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(340-342)Cgc>Agc		myosin XVA							10	12	11					17																	18022454		1675	3746	5421	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022454C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.340C>A	17.37:g.18022454C>A	ENSP00000205890:p.Arg114Ser						p.R114S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	678	+	all_neural(463;0.228)		114			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.340C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710691	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	4.92	2.65	0.31530	.	.	.	.	.	T	0.79106	0.4390	N	0.24115	0.695	0.09310	N	0.999999	P	0.44690	0.841	B	0.35278	0.199	T	0.69316	-0.5177	9	0.54805	T	0.06	.	10.4112	0.44294	0.2702:0.6111:0.1186:0.0	.	114	Q9UKN7	MYO15_HUMAN	S	114	ENSP00000205890:R114S	ENSP00000205890:R114S	R	+	1	0	MYO15A	17963179	0.014000	0.17966	0.019000	0.16419	0.119000	0.20118	0.115000	0.15540	1.040000	0.40099	0.462000	0.41574	CGC		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		34	141	1	0	1.45844e-13	1	1.57644e-13	34	141					A	18022454	C	A	18022454	3	1	79	1	0	0	0	0	1	0	0	0	10104	652	23	3	342	3	MYO15A	17	18022454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15328	18022454	63172756	17009	27326											
MYO15A	51168	broad.mit.edu	37	chr17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttttccaggccaccccCtgtgccggaaaacccctttc	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	958					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCACCCCCTGTGCCGGAA	0.682																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(2872-2874)cCt>cTt		myosin XVA							11	13	13					17																	18024987		1870	4056	5926	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18024987C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2873C>T	17.37:g.18024987C>T	ENSP00000205890:p.Pro958Leu						p.P958L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3211	+	all_neural(463;0.228)		958			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.2873C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	8.837	0.941276	0.18281	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	4.49	2.44	0.29823	.	.	.	.	.	T	0.78175	0.4242	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.66952	-0.5793	9	0.72032	D	0.01	.	5.4677	0.16652	0.1973:0.6959:0.0:0.1068	.	958	Q9UKN7	MYO15_HUMAN	L	958	ENSP00000205890:P958L	ENSP00000205890:P958L	P	+	2	0	MYO15A	17965712	0.001000	0.12720	0.007000	0.13788	0.257000	0.26127	1.014000	0.29950	0.324000	0.23333	0.462000	0.41574	CCT		0.682	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		20	115	0	0	0	1	0	20	115					T	18024987	C	T	18024987	3	4	79	1	0	0	0	0	1	0	0	0	10104	681	24	2	2875	2	MYO15A	17	18024987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	18024987	63170223	17010	27327											
MYO15A	51168	broad.mit.edu	37	chr17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcacctcccaaggAtgtcactccccccaaggata	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1037					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCCAAGGATGTCACTCCC	0.612																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3109-3111)gAt>gGt		myosin XVA							73	79	77					17																	18025224		1963	4151	6114	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025224A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3110A>G	17.37:g.18025224A>G	ENSP00000205890:p.Asp1037Gly						p.D1037G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3448	+	all_neural(463;0.228)		1037			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3110A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	5.810	0.333662	0.11013	.	.	ENSG00000091536	ENST00000205890	D	0.87334	-2.24	0.717	-1.43	0.08884	.	.	.	.	.	T	0.66336	0.2779	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.55418	-0.8144	9	0.32370	T	0.25	.	2.8426	0.05534	0.5027:0.4973:0.0:0.0	.	1037	Q9UKN7	MYO15_HUMAN	G	1037	ENSP00000205890:D1037G	ENSP00000205890:D1037G	D	+	2	0	MYO15A	17965949	0.008000	0.16893	0.066000	0.19879	0.076000	0.17211	0.332000	0.19751	0.077000	0.16863	0.076000	0.15429	GAT		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		160	531	0	0	0	1	0	160	531					G	18025224	A	G	18025224	3	3	79	1	0	0	0	0	1	0	0	0	10104	333	12	4	3112	4	MYO15A	17	18025224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	237	18025224	63169986	17011	27328											
MYO15A	51168	broad.mit.edu	37	chr17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactggctgcgtgtgaccaGaccagggccacatggccacc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3208-3210)caG>caT		myosin XVA							85	91	89					17																	18025324		1998	4164	6162	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025324G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3210G>T	17.37:g.18025324G>T	ENSP00000205890:p.Gln1070His						p.Q1070H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3548	+	all_neural(463;0.228)		1070			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3210G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	9.487	1.099688	0.20552	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	MYO15A	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		114	776	1	0	1.26781e-57	1	1.58805e-57	114	776					T	18025324	G	T	18025324	3	4	79	1	0	0	0	0	1	0	0	0	10104	933	33	3	3212	3	MYO15A	17	18025324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	18025324	63169886	17012	27329											
MYO15A	51168	broad.mit.edu	37	chr17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccacctgggccctggaGctgcctgcctgtcccttagg	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1183					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCCTGGAGCTGCCTGCCT	0.637																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3547-3549)Gct>Tct		myosin XVA							36	44	41					17																	18025661		2034	4186	6220	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025661G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3547G>T	17.37:g.18025661G>T	ENSP00000205890:p.Ala1183Ser						p.A1183S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3885	+	all_neural(463;0.228)		1183			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3547G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.173760	0.38413	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.22	2.93	0.34026	.	.	.	.	.	T	0.79505	0.4457	L	0.38175	1.15	0.18873	N	0.999984	B	0.20261	0.043	B	0.16722	0.016	T	0.66488	-0.5911	9	0.36615	T	0.2	.	7.1014	0.25340	0.2546:0.0:0.7454:0.0	.	1183	Q9UKN7	MYO15_HUMAN	S	1183	ENSP00000205890:A1183S	ENSP00000205890:A1183S	A	+	1	0	MYO15A	17966386	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	0.483000	0.22292	0.949000	0.37715	0.561000	0.74099	GCT		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		57	310	1	0	4.45325e-31	1	5.23636e-31	57	310					T	18025661	G	T	18025661	3	4	79	1	0	0	0	0	1	0	0	0	10104	971	34	3	3549	3	MYO15A	17	18025661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	18025661	63169549	17013	27330											
MYO15A	51168	broad.mit.edu	37	chr17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtgaacccataccaAatgtttggaatctatgggcc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1266	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCATACCAAATGTTTGGAA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3796-3798)caA>caC		myosin XVA							65	72	70					17																	18029702		2060	4199	6259	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18029702A>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3798A>C	17.37:g.18029702A>C	ENSP00000205890:p.Gln1266His						p.Q1266H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			5	4136	+	all_neural(463;0.228)		1266			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3798A>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078142	0.36662	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.76	-4.7	0.03288	Myosin head, motor domain (3);	.	.	.	.	T	0.80502	0.4635	L	0.52573	1.65	0.45979	D	0.998799	P	0.42941	0.794	B	0.42163	0.378	T	0.72880	-0.4158	9	0.66056	D	0.02	.	5.9835	0.19421	0.3199:0.1036:0.4753:0.1012	.	1266	Q9UKN7	MYO15_HUMAN	H	1266	ENSP00000205890:Q1266H	ENSP00000205890:Q1266H	Q	+	3	2	MYO15A	17970427	0.032000	0.19561	0.522000	0.27862	0.602000	0.36980	-0.287000	0.08388	-1.279000	0.02405	-1.288000	0.01363	CAA		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		43	241	0	0	0	1	0	43	241					C	18029702	A	C	18029702	3	2	79	1	0	0	0	0	1	0	0	0	10104	11	1	4	3812	4	MYO15A	17	18029702	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4041	18029702	63165508	17014	27331											
MYO15A	51168	broad.mit.edu	37	chr17	18030104	18030104	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgacctgtctccccaGgcacctctttgctgttgcaa	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCTCCCCAGGCACCTCTTT	0.552																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.e6-1		myosin XVA							113	117	116					17																	18030104		2003	4164	6167	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18030104G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3867-1G>T	17.37:g.18030104G>T								NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			6	4204	+	all_neural(463;0.228)							B4DFC7	Splice_Site	SNP	ENST00000205890.5	37		CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459850	0.84317	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3189	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17970829	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.807000	0.99171	2.321000	0.78463	0.655000	0.94253	.		0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Intron	30	756	1	0	1.61788e-16	1	1.7777e-16	30	756					T	18030104	G	T	18030104	5	4	79	1	0	0	0	0	0	0	1	0	10104	1014	35	3	3884	3	MYO15A	17	18030104	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402	18030104	63165106	17015	27332											
MYO15A	51168	broad.mit.edu	37	chr17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagccttatggcatcctgCggatccttgacgaccagtgt	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1659	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCATCCTGCGGATCCTTGA	0.557																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(4975-4977)Cgg>Tgg		myosin XVA							91	92	92					17																	18041528		2198	4294	6492	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18041528C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4975C>T	17.37:g.18041528C>T	ENSP00000205890:p.Arg1659Trp						p.R1659W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			17	5313	+	all_neural(463;0.228)		1659			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4975C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688329	0.48097	.	.	ENSG00000091536	ENST00000205890	D	0.95205	-3.64	5.64	3.43	0.39272	Myosin head, motor domain (3);	.	.	.	.	D	0.96494	0.8856	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96458	0.9339	9	0.72032	D	0.01	.	11.8686	0.52507	0.2227:0.6798:0.0976:0.0	.	1659	Q9UKN7	MYO15_HUMAN	W	1659	ENSP00000205890:R1659W	ENSP00000205890:R1659W	R	+	1	2	MYO15A	17982253	0.994000	0.37717	1.000000	0.80357	0.645000	0.38454	1.591000	0.36665	1.358000	0.45922	0.655000	0.94253	CGG		0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		57	240	0	0	0	1	0	57	240					T	18041528	C	T	18041528	3	4	79	1	0	0	0	0	1	0	0	0	10104	759	27	1	5033	1	MYO15A	17	18041528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11424	18041528	63153682	17016	27333											
MYO15A	51168	broad.mit.edu	37	chr17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcatccctacaggagccaGgtctctttgagccagatgtg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1805	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACAGGAGCCAGGTCTCTTTGA	0.542											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5413-5415)Ggt>Tgt		myosin XVA							63	66	65					17																	18044339		1960	4153	6113	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18044339G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5413G>T	17.37:g.18044339G>T	ENSP00000205890:p.Gly1805Cys		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.G1805C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			22	5751	+	all_neural(463;0.228)		1805			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5413G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165221	0.21538	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.78	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92928	0.7750	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	D	0.92453	0.5971	9	0.48119	T	0.1	.	13.9293	0.63983	0.1321:0.0:0.8679:0.0	.	1805	Q9UKN7	MYO15_HUMAN	C	1805	ENSP00000205890:G1805C	ENSP00000205890:G1805C	G	+	1	0	MYO15A	17985064	1.000000	0.71417	0.808000	0.32385	0.121000	0.20230	3.994000	0.56994	0.803000	0.34113	-1.134000	0.01955	GGT		0.542	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		36	159	1	0	1.26612e-14	1	1.37737e-14	36	159					T	18044339	G	T	18044339	3	4	79	1	0	0	0	0	1	0	0	0	10104	1000	35	3	5491	3	MYO15A	17	18044339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2811	18044339	63150871	17017	27334											
MYO15A	51168	broad.mit.edu	37	chr17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccagcatggcgctggAcgtgggctgcttcaatggta	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCGCTGGACGTGGGCTGC	0.672																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6673-6675)gAc>gGc		myosin XVA							30	34	32					17																	18051507		2118	4244	6362	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18051507A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6674A>G	17.37:g.18051507A>G	ENSP00000205890:p.Asp2225Gly						p.D2225G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			31	7012	+	all_neural(463;0.228)		2225			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6674A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276792	0.59758	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	4.1	4.1	0.47936	.	.	.	.	.	D	0.91338	0.7268	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.90939	0.4796	9	0.42905	T	0.14	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	2225	Q9UKN7	MYO15_HUMAN	G	2225	ENSP00000205890:D2225G	ENSP00000205890:D2225G	D	+	2	0	MYO15A	17992232	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.611000	0.67674	1.733000	0.51620	0.459000	0.35465	GAC		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		40	234	0	0	0	1	0	40	234					G	18051507	A	G	18051507	3	3	79	1	0	0	0	0	1	0	0	0	10104	275	10	4	6788	4	MYO15A	17	18051507	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7168	18051507	63143703	17018	27335											
MYO15A	51168	broad.mit.edu	37	chr17	18054176	18054176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaccctgcaggccacGgcactccagcagcagcccct	11	17	0	2	rs374624571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2474	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGGCCACGGCACTCCAGC	0.672																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7420-7422)acG>acA		myosin XVA		G		0,4072		0,0,2036	20	26	24		7422	4	1	17		24	1,8353		0,1,4176	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6212	AA,AG,GG		0.012,0.0,0.0080		2474/3531	18054176	1,12425	2036	4177	6213	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054176G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7422G>A	17.37:g.18054176G>A							p.T2474T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			38	7760	+	all_neural(463;0.228)		2474			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.7422G>A	CCDS42271.1																																																																																				0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	57	0	0	0	1	0	7	57					A	18054176	G	A	18054176	2	1	79	1	0	0	0	0	0	0	0	1	10104	1103	39	1		1	MYO15A	17	18054176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2669	18054176	63141034	17019	27336											
MYO15A	51168	broad.mit.edu	37	chr17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccccctgccaaacccGtgctcctgcgtgccactcca	8	21	0	0	rs201619309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2512	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCAAACCCGTGCTCCTGCG	0.647													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16594	0.0		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7534-7536)Gtg>Atg		myosin XVA		G	MET/VAL	0,4012		0,0,2006	99	111	107		7534	5.2	1	17		107	2,8326		0,2,4162	yes	missense	MYO15A	NM_016239.3	21	0,2,6168	AA,AG,GG		0.024,0.0,0.0162	probably-damaging	2512/3531	18054484	2,12338	2006	4164	6170	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054484G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7534G>A	17.37:g.18054484G>A	ENSP00000205890:p.Val2512Met						p.V2512M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			39	7872	+	all_neural(463;0.228)		2512			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7534G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685918	0.29962	0.0	2.4E-4	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.25	5.25	0.73442	.	.	.	.	.	D	0.90645	0.7066	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.90169	0.4234	9	0.54805	T	0.06	.	10.1994	0.43073	0.0917:0.0:0.9083:0.0	.	2512	Q9UKN7	MYO15_HUMAN	M	2512	ENSP00000205890:V2512M	ENSP00000205890:V2512M	V	+	1	0	MYO15A	17995209	1.000000	0.71417	0.958000	0.39756	0.201000	0.24016	4.002000	0.57053	2.608000	0.88229	0.655000	0.94253	GTG		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		50	1059	0	0	0	1	0	50	1059					A	18054484	G	A	18054484	3	1	79	1	0	0	0	0	1	0	0	0	10104	1145	40	1	7680	1	MYO15A	17	18054484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	18054484	63140726	17020	27337											
MYO15A	51168	broad.mit.edu	37	chr17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcgaactcagcgacaGcagcctcagcaagatggcca	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000205890.5	+	54	9532	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3065	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCAGCGACAGCAGCCTCAGC	0.587																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9193-9195)aGc>aTc		myosin XVA							87	94	92					17																	18062626		2119	4225	6344	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18062626G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9194G>T	17.37:g.18062626G>T	ENSP00000205890:p.Ser3065Ile					MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	p.S3065I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			54	9532	+	all_neural(463;0.228)		3065			MyTH4 2.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9194G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068420	0.20067	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94966	-2.38;-3.57	4.94	1.56	0.23342	MyTH4 domain (2);	.	.	.	.	D	0.90229	0.6945	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40000	0.698;0.429;0.437	B;B;B	0.37047	0.205;0.24;0.091	D	0.84921	0.0854	9	0.42905	T	0.14	.	9.9795	0.41804	0.1341:0.2133:0.6525:0.0	.	54;329;3065	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	I	3065;54;19	ENSP00000205890:S3065I;ENSP00000451782:S19I	ENSP00000205890:S3065I	S	+	2	0	MYO15A	18003351	0.996000	0.38824	0.999000	0.59377	0.763000	0.43281	1.147000	0.31602	0.132000	0.18615	-1.598000	0.00824	AGC		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		40	206	1	0	6.5261e-18	1	7.22248e-18	40	206					T	18062626	G	T	18062626	3	4	79	1	0	0	0	0	1	0	0	0	10104	971	34	3	9400	3	MYO15A	17	18062626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8142	18062626	63132584	17021	27338											
MYO15A	51168	broad.mit.edu	37	chr17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgtctggagctccccAgcagcatagagcttcgggcc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000205890.5	+	58	9924	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3196	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGCTCCCCAGCAGCATAGA	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9586-9588)Agc>Ggc		myosin XVA							39	40	40					17																	18065967		1944	4141	6085	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18065967A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9586A>G	17.37:g.18065967A>G	ENSP00000205890:p.Ser3196Gly					MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	p.S3196G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			58	9924	+	all_neural(463;0.228)		3196			MyTH4 2.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9586A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710290	0.48517	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92752	-3.1;-3.1;-3.1	4.94	3.86	0.44501	MyTH4 domain (3);	.	.	.	.	D	0.92675	0.7672	M	0.89715	3.055	0.44024	D	0.996748	B;B;B;B;B;B	0.26602	0.062;0.067;0.014;0.046;0.083;0.154	B;B;B;B;B;B	0.31016	0.123;0.058;0.021;0.028;0.036;0.066	D	0.89101	0.3489	9	0.36615	T	0.2	.	10.4867	0.44726	0.9226:0.0:0.0774:0.0	.	88;185;460;3196;118;203	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	G	3196;185;150;88;88	ENSP00000205890:S3196G;ENSP00000451782:S150G;ENSP00000409098:S88G	ENSP00000205890:S3196G	S	+	1	0	MYO15A	18006692	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.939000	0.70179	0.732000	0.32470	0.374000	0.22700	AGC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	200	0	0	0	1	0	12	200					G	18065967	A	G	18065967	3	3	79	1	0	0	0	0	1	0	0	0	10104	188	7	4	9808	4	MYO15A	17	18065967	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3341	18065967	63129243	17022	27339											
MYO15A	51168	broad.mit.edu	37	chr17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctacatgctctggttcCggcgtgtgctctgggatcag	15	11	3	0	rs377125285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9880-9882)Cgg>Tgg		myosin XVA		C	TRP/ARG	1,4229		0,1,2114	113	124	120		9880	5.5	1	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18069767C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9880C>T	17.37:g.18069767C>T	ENSP00000205890:p.Arg3294Trp					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	p.R3294W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			61	10218	+	all_neural(463;0.228)		3294			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9880C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		100	521	0	0	0	1	0	100	521					T	18069767	C	T	18069767	3	4	79	1	0	0	0	0	1	0	0	0	10104	643	23	1	10114	1	MYO15A	17	18069767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	18069767	63125443	17023	27340											
MYO15A	51168	broad.mit.edu	37	chr17	18075471	18075471	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccctctccctgcccagGcctcctcagcgccttaccta	5	23	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10217G>A	c.(10216-10218)gGc>gAc	p.G3406D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Splice_Site_p.G670D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3406	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGCCCAGGCCTCCTCAGC	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.e64-1		myosin XVA							91	99	96					17																	18075471		2114	4229	6343	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18075471G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10217-1G>A	17.37:g.18075471G>A						MYO15A_ENST00000451725.2_Splice_Site_p.A200_splice|MYO15A_ENST00000418233.3_Splice_Site_p.G670_splice	p.G3406_splice	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			64	10555	+	all_neural(463;0.228)		3406			FERM.|Tail.		B4DFC7	Splice_Site	SNP	ENST00000205890.5	37	c.10216_splice	CCDS42271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.863609|2.863609	0.51482|0.51482	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000451725|ENST00000205890;ENST00000418233;ENST00000445289	D|T	0.98105|0.77098	-4.72|-1.07	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.85305|0.85305	0.5666|0.5666	L|L	0.48174|0.48174	1.505|1.505	0.50171|0.50171	D|D	0.999855|0.999855	B|D;D;P;D	0.32245|0.89917	0.361|1.0;1.0;0.952;1.0	B|D;D;P;D	0.32864|0.97110	0.154|0.995;0.995;0.876;1.0	T|T	0.82983|0.82983	-0.0186|-0.0186	8|8	.|.	.|.	.|.	.|.	19.6732|19.6732	0.95918|0.95918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|395;101;670;3406	B4DQJ3|B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.|.;.;.;MYO15_HUMAN	T|D	200|3406;395;101	ENSP00000409098:A200T|ENSP00000205890:G3406D	.|.	A|G	+|+	1|2	0|0	MYO15A|MYO15A	18016196|18016196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	9.647000|9.647000	0.98478|0.98478	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Missense_Mutation	73	310	0	0	0	1	0	73	310					A	18075471	G	A	18075471	5	1	79	1	0	0	0	0	0	0	1	0	10104	1217	42	2	10463	2	MYO15A	17	18075471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	18075471	63119739	17024	27341											
ALKBH5	54890	broad.mit.edu	37	chr17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccaagcggtcccaccGcaaggcagaccctgatgctg	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(979-981)cGc>cAc		alkB, alkylation repair homolog 5 (E. coli)							143	148	146					17																	18110257		1940	4129	6069	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18110257G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.980G>A	17.37:g.18110257G>A	ENSP00000382091:p.Arg327His					ALKBH5_ENST00000541285.1_5'UTR	p.R327H	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			3	985	+	all_neural(463;0.228)		327					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.980G>A	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	ALKBH5	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC		0.587	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		199	986	0	0	0	1	0	199	986					A	18110257	G	A	18110257	3	1	79	1	0	0	0	0	1	0	0	0	530	1087	38	1	990	1	ALKBH5	17	18110257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34786	18110257	63084953	17025	27342											
LLGL1	3996	broad.mit.edu	37	chr17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccagcgccctggccttcGacccggaacttcgcatcatg	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	43					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(127-129)Gac>Aac		lethal giant larvae homolog 1 (Drosophila)							107	93	98					17																	18133300		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18133300G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.127G>A	17.37:g.18133300G>A	ENSP00000321537:p.Asp43Asn						p.D43N	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			2	223	+	all_neural(463;0.228)		43					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.127G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450212	0.96205	.	.	ENSG00000131899	ENST00000316843	T	0.64618	-0.11	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.87932	D	0	-37.7297	17.8256	0.88664	0.0:0.0:1.0:0.0	.	43	Q15334	L2GL1_HUMAN	N	43	ENSP00000321537:D43N	ENSP00000321537:D43N	D	+	1	0	LLGL1	18074025	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	4.514000	0.60482	2.584000	0.87258	0.558000	0.71614	GAC		0.622	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			118	452	0	0	0	1	0	118	452					A	18133300	G	A	18133300	3	1	79	1	0	0	0	0	1	0	0	0	8866	1058	37	1	133	1	LLGL1	17	18133300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23043	18133300	63061910	17026	27343											
LLGL1	3996	broad.mit.edu	37	chr17	18135840	18135840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgtggagttcacaggcCtgcaccgggatgcagccact	14	13	1	0	rs139741665		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	71					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18640	0.0		0.001	False		,,,				2504	0.0					ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(211-213)Ctg>Ttg		lethal giant larvae homolog 1 (Drosophila)							76	64	68					17																	18135840		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18135840C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.211C>T	17.37:g.18135840C>T							p.L71L	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			3	307	+	all_neural(463;0.228)		71					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.211C>T	CCDS32586.1																																																																																				0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			29	158	0	0	0	1	0	29	158					T	18135840	C	T	18135840	2	4	79	1	0	0	0	0	0	0	0	1	8866	680	24	2		2	LLGL1	17	18135840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2540	18135840	63059370	17027	27344											
LLGL1	3996	broad.mit.edu	37	chr17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtgaccgccactgtgTaagtgtgcttcgagccgaga	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	323					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(967-969)gTa>gCa		lethal giant larvae homolog 1 (Drosophila)							86	62	70					17																	18138215		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138215T>C		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.968T>C	17.37:g.18138215T>C	ENSP00000321537:p.Val323Ala						p.V323A	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			9	1064	+	all_neural(463;0.228)		323					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.968T>C	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056948	0.93846	.	.	ENSG00000131899	ENST00000316843	T	0.07908	3.15	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.118496	0.64402	D	0.000020	T	0.21674	0.0522	M	0.71206	2.165	0.53688	D	0.999977	P	0.52170	0.951	P	0.53035	0.716	T	0.00357	-1.1792	10	0.87932	D	0	-24.0971	14.8227	0.70085	0.0:0.0:0.0:1.0	.	323	Q15334	L2GL1_HUMAN	A	323	ENSP00000321537:V323A	ENSP00000321537:V323A	V	+	2	0	LLGL1	18078940	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.990000	0.88215	2.156000	0.67533	0.524000	0.50904	GTA		0.582	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			21	147	0	0	0	1	0	21	147					C	18138215	T	C	18138215	3	2	79	1	0	0	0	0	1	0	0	0	8866	1638	57	4	1002	4	LLGL1	17	18138215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2375	18138215	63056995	17028	27345											
LLGL1	3996	broad.mit.edu	37	chr17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcttcgactaccagcGcaagagccctgtgctggcca	11	15	1	1	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	628				FDYQRK -> L (in Ref. 1; CAA60130). {ECO:0000305}.	axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1882-1884)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)		G	HIS/ARG	0,4406		0,0,2203	42	33	36		1883	4.6	1	17	dbSNP_134	36	2,8598	2.2+/-6.3	0,2,4298	no	missense	LLGL1	NM_004140.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	628/1065	18141066	2,13004	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141066G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1883G>A	17.37:g.18141066G>A	ENSP00000321537:p.Arg628His						p.R628H	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			14	1979	+	all_neural(463;0.228)		628	FDYQRK -> L (in Ref. 1; CAA60130).				A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1883G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552439	0.86127	0.0	2.33E-4	ENSG00000131899	ENST00000316843	T	0.36157	1.27	5.53	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);	0.048555	0.85682	D	0.000000	T	0.52964	0.1767	L	0.55481	1.735	0.53005	D	0.999966	D	0.89917	1.0	D	0.66602	0.945	T	0.55749	-0.8092	10	0.62326	D	0.03	-30.1925	14.2074	0.65744	0.0716:0.0:0.9284:0.0	.	628	Q15334	L2GL1_HUMAN	H	628	ENSP00000321537:R628H	ENSP00000321537:R628H	R	+	2	0	LLGL1	18081791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.464000	0.53057	1.366000	0.46076	0.561000	0.74099	CGC		0.637	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			20	206	0	0	0	1	0	20	206					A	18141066	G	A	18141066	3	1	79	1	0	0	0	0	1	0	0	0	8866	1087	38	1	1937	1	LLGL1	17	18141066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	18141066	63054144	17029	27346											
LLGL1	3996	broad.mit.edu	37	chr17	18144854	18144854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggtggcactggccacGtttgccagtgtggcctgcga	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	864					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2590-2592)acG>acA		lethal giant larvae homolog 1 (Drosophila)							75	55	62					17																	18144854		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144854G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2592G>A	17.37:g.18144854G>A							p.T864T	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			18	2688	+	all_neural(463;0.228)		864					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2592G>A	CCDS32586.1																																																																																				0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			44	173	0	0	0	1	0	44	173					A	18144854	G	A	18144854	2	1	79	1	0	0	0	0	0	0	0	1	8866	1132	40	1		1	LLGL1	17	18144854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3788	18144854	63050356	17030	27347											
LLGL1	3996	broad.mit.edu	37	chr17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttacctgatatccccatcaGaatttgaacgcttctcccta	4	13	2	3	rs566558385	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	931					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2791-2793)Gaa>Taa		lethal giant larvae homolog 1 (Drosophila)							87	86	86					17																	18145222		2203	4300	6503	SO:0001587	stop_gained	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145222G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2791G>T	17.37:g.18145222G>T	ENSP00000321537:p.Glu931*						p.E931*	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			19	2887	+	all_neural(463;0.228)		931					A7MBM7|O00188|Q58F11|Q86UK6	Nonsense_Mutation	SNP	ENST00000316843.4	37	c.2791G>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437037	0.98810	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7618	19.5134	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000321537:E931X	E	+	1	0	LLGL1	18085947	1.000000	0.71417	0.940000	0.37924	0.827000	0.46813	9.350000	0.97070	2.696000	0.92011	0.655000	0.94253	GAA		0.572	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			97	467	1	0	4.7146e-34	1	5.60093e-34	97	467					T	18145222	G	T	18145222	4	4	79	1	0	0	0	0	0	1	0	0	8866	943	33	3	2865	3	LLGL1	17	18145222	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	18145222	63049988	17031	27348											
FLII	2314	broad.mit.edu	37	chr17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaccgccttcctcttgCcccggtggatgatgaacttc	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1043					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTTCCTCTTGCCCCGGTGGAT	0.637																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3127-3129)gGc>gAc		flightless I homolog (Drosophila)							145	142	143					17																	18149700		2203	4299	6502	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149700C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3128G>A	17.37:g.18149700C>T	ENSP00000324573:p.Gly1043Asp					FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	p.G1043D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			24	3353	-	all_neural(463;0.228)		1043					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3128G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962362	0.92791	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.989	T	0.64110	-0.6484	10	0.72032	D	0.01	-30.6298	19.4312	0.94768	0.0:1.0:0.0:0.0	.	957;957;1043;1012	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1043;922;957	ENSP00000324573:G1043D;ENSP00000368763:G957D	ENSP00000324573:G1043D	G	-	2	0	FLII	18090425	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	GGC		0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		180	794	0	0	0	1	0	180	794					T	18149700	C	T	18149700	3	4	79	1	0	0	0	0	1	0	0	0	5950	739	26	2	709	2	FLII	17	18149700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4478	18149700	63045510	17032	27349											
FLII	2314	broad.mit.edu	37	chr17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggaagacgtagcagTcctgcgtgtagaagtggcca	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	932	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GACGTAGCAGTCCTGCGTGTA	0.612																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2794-2796)gAc>gGc		flightless I homolog (Drosophila)							111	98	103					17																	18150248		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150248T>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2795A>G	17.37:g.18150248T>C	ENSP00000324573:p.Asp932Gly					FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	p.D932G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			22	3020	-	all_neural(463;0.228)		932			Glu-rich.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2795A>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507034	0.64410	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.38077	1.68;1.16;1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.997	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.979;0.989	T	0.70223	-0.4931	10	0.87932	D	0	-37.3956	15.4149	0.74960	0.0:0.0:0.0:1.0	.	846;846;811;932;901	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	932;811;846	ENSP00000324573:D932G;ENSP00000438536:D811G;ENSP00000368763:D846G	ENSP00000324573:D932G	D	-	2	0	FLII	18090973	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	5.625000	0.67770	2.045000	0.60652	0.459000	0.35465	GAC		0.612	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		44	385	0	0	0	1	0	44	385					C	18150248	T	C	18150248	3	2	79	1	0	0	0	0	1	0	0	0	5950	1667	58	4	1050	4	FLII	17	18150248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	548	18150248	63044962	17033	27350											
SMCR7	125170	broad.mit.edu	37	chr17	18166031	18166031	+	5'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggctctcttacaggcaGaccatggcagagttctccca	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18166031G>T	ENST00000323019.4	+	0	208				MIEF2_ENST00000577216.1_Intron|MIEF2_ENST00000395703.4_5'UTR|MIEF2_ENST00000395704.4_5'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.Q10H|MIEF2_ENST00000578621.1_5'UTR|MIEF2_ENST00000578174.1_5'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2						mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTTACAGGCAGACCATGGCAG	0.642																																						ENST00000395706.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(28-30)caG>caT									35	32	33					17																	18166031		2201	4299	6500	SO:0001623	5_prime_UTR_variant	0					integral to membrane	protein binding	g.chr17:18166031G>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.-4G>T	17.37:g.18166031G>T						SMCR7_ENST00000395703.4_5'UTR|SMCR7_ENST00000578174.1_5'UTR|SMCR7_ENST00000578621.1_5'UTR|SMCR7_ENST00000323019.4_5'UTR|SMCR7_ENST00000577216.1_Intron|SMCR7_ENST00000395704.4_5'UTR	p.Q10H	NM_148886.1	NP_683684.2	Q96C03	SMCR7_HUMAN			2	56	+	all_neural(463;0.228)		0					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.30G>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225893	0.39300	.	.	ENSG00000177427	ENST00000395706	T	0.12465	2.68	4.01	0.81	0.18732	.	0.945316	0.08294	U	0.968007	T	0.16085	0.0387	.	.	.	0.23607	N	0.997303	.	.	.	.	.	.	T	0.36335	-0.9752	7	0.87932	D	0	.	6.9204	0.24385	0.1663:0.1431:0.6906:0.0	.	.	.	.	H	10	ENSP00000379057:Q10H	ENSP00000379057:Q10H	Q	+	3	2	SMCR7	18106756	0.000000	0.05858	0.239000	0.24122	0.915000	0.54546	0.184000	0.16939	-0.008000	0.14320	-0.258000	0.10820	CAG		0.642	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		37	134	1	0	8.73648e-17	1	9.61379e-17	37	134					T	18166031	G	T	18166031	1	4	79	0	1	0	0	0	0	0	0	0	14840	933	33	3		3	SMCR7	17	18166031	5'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15783	18166031	63029179	17034	27351											
TOP3A	7156	broad.mit.edu	37	chr17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaaagccacactgcTgctctctcggcttggcacat	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	928					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2782-2784)cAg>cGg		topoisomerase (DNA) III alpha							131	115	120					17																	18181033		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181033T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2783A>G	17.37:g.18181033T>C	ENSP00000321636:p.Gln928Arg					TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	p.Q928R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2997	-			928					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2783A>G	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705739	0.48412	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.22539	1.95;1.95;1.95	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.101533	0.64402	D	0.000001	T	0.28034	0.0691	L	0.52364	1.645	0.80722	D	1	P;P	0.49307	0.922;0.656	P;B	0.46850	0.529;0.424	T	0.01215	-1.1416	10	0.39692	T	0.17	-10.0837	15.8707	0.79117	0.0:0.0:0.0:1.0	.	833;928	B4DK80;Q13472	.;TOP3A_HUMAN	R	928;458;833	ENSP00000321636:Q928R;ENSP00000446425:Q458R;ENSP00000442336:Q833R	ENSP00000321636:Q928R	Q	-	2	0	TOP3A	18121758	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.918000	0.69996	2.162000	0.67917	0.448000	0.29417	CAG		0.582	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			78	498	0	0	0	1	0	78	498					C	18181033	T	C	18181033	3	2	79	1	0	0	0	0	1	0	0	0	16420	1580	55	4	230	4	TOP3A	17	18181033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15002	18181033	63014177	17035	27352											
TOP3A	7156	broad.mit.edu	37	chr17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaatcatgaggccatggGccacaaagcgttcctgagcg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	467					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1399-1401)gCc>gTc		topoisomerase (DNA) III alpha							130	121	124					17																	18194223		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194223G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1400C>T	17.37:g.18194223G>A	ENSP00000321636:p.Ala467Val					TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V|TOP3A_ENST00000540524.1_5'UTR	p.A467V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			12	1614	-			467					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1400C>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466920	0.63625	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.26957	1.7;1.7	5.72	5.72	0.89469	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.099623	0.64402	D	0.000001	T	0.52725	0.1752	M	0.77712	2.385	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63283	0.913;0.859	T	0.51560	-0.8690	10	0.51188	T	0.08	-22.6968	19.8731	0.96858	0.0:0.0:1.0:0.0	.	372;467	B4DK80;Q13472	.;TOP3A_HUMAN	V	467;372	ENSP00000321636:A467V;ENSP00000442336:A372V	ENSP00000321636:A467V	A	-	2	0	TOP3A	18134948	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.829000	0.86735	2.699000	0.92147	0.563000	0.77884	GCC		0.522	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			38	255	0	0	0	1	0	38	255					A	18194223	G	A	18194223	3	1	79	1	0	0	0	0	1	0	0	0	16420	1203	42	2	1637	2	TOP3A	17	18194223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13190	18194223	63000987	17036	27353											
TOP3A	7156	broad.mit.edu	37	chr17	18194249	18194249	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgttcctgagcgatgtcGatctccactgtggtctcctg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1372-1374)atC>atT		topoisomerase (DNA) III alpha							128	120	123					17																	18194249		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194249G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1374C>T	17.37:g.18194249G>A						TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	p.I458I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			12	1588	-			458					A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.1374C>T	CCDS11194.1																																																																																				0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			58	275	0	0	0	1	0	58	275					A	18194249	G	A	18194249	2	1	79	1	0	0	0	0	0	0	0	1	16420	1048	37	1		1	TOP3A	17	18194249	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18194249	63000961	17037	27354											
TOP3A	7156	broad.mit.edu	37	chr17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcatttattctcaactttCgagaagccagcttctcaagc	6	11	2	1	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	338					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1012-1014)cGa>cAa		topoisomerase (DNA) III alpha		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106	96	100		1013	5.2	1	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	TOP3A	NM_004618.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	338/1002	18198077	1,13005	2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18198077C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1013G>A	17.37:g.18198077C>T	ENSP00000321636:p.Arg338Gln					TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	p.R338Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			10	1227	-			338					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1013G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669499	0.67814	2.27E-4	0.0	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.24538	1.85;1.85	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66093	-0.6009	10	0.72032	D	0.01	-15.5167	19.1963	0.93690	0.0:1.0:0.0:0.0	.	243;338	B4DK80;Q13472	.;TOP3A_HUMAN	Q	338;243	ENSP00000321636:R338Q;ENSP00000442336:R243Q	ENSP00000321636:R338Q	R	-	2	0	TOP3A	18138802	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.692000	0.84203	2.610000	0.88304	0.591000	0.81541	CGA		0.433	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			60	213	0	0	0	1	0	60	213					T	18198077	C	T	18198077	3	4	79	1	0	0	0	0	1	0	0	0	16420	884	31	1	2032	1	TOP3A	17	18198077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3828	18198077	62997133	17038	27355											
SMCR8	140775	broad.mit.edu	37	chr17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccagaagaaagccaacGacaaaggcttttactcatct	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	221						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(661-663)Gac>Aac		Smith-Magenis syndrome chromosome region, candidate 8							61	58	59					17																	18219764		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219764G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.661G>A	17.37:g.18219764G>A	ENSP00000385025:p.Asp221Asn						p.D221N	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1141	+			221					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.661G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871235	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.03	6.03	0.97812	.	0.116838	0.64402	D	0.000013	T	0.33177	0.0854	N	0.17082	0.46	0.40450	D	0.980134	D	0.57571	0.98	P	0.51999	0.687	T	0.02789	-1.1110	10	0.30854	T	0.27	-41.651	20.5568	0.99304	0.0:0.0:1.0:0.0	.	221	Q8TEV9	SMCR8_HUMAN	N	221	ENSP00000385025:D221N	ENSP00000385025:D221N	D	+	1	0	SMCR8	18160489	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.654000	0.67974	2.861000	0.98227	0.655000	0.94253	GAC		0.463	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		10	207	0	0	0	1	0	10	207					A	18219764	G	A	18219764	3	1	79	1	0	0	0	0	1	0	0	0	14842	1058	37	1	663	1	SMCR8	17	18219764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21687	18219764	62975446	17039	27356											
SMCR8	140775	broad.mit.edu	37	chr17	18219847	18219847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcattgaacatcaagaCctgctgaagcagatccgctc	7	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	248						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(742-744)gaC>gaT		Smith-Magenis syndrome chromosome region, candidate 8							71	56	61					17																	18219847		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219847C>T	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.744C>T	17.37:g.18219847C>T							p.D248D	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1224	+			248					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.744C>T	CCDS11195.2																																																																																				0.498	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		32	188	0	0	0	1	0	32	188					T	18219847	C	T	18219847	2	4	79	1	0	0	0	0	0	0	0	1	14842	506	18	2		2	SMCR8	17	18219847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	18219847	62975363	17040	27357											
SMCR8	140775	broad.mit.edu	37	chr17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctacgtgagcagtgtaGcgtccaccagctcagacagg	12	13	1	2	rs565417602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	682						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562													G|||	3	0.000599042	0.0	0.0	5008	,	,		20595	0.0		0.0	False		,,,				2504	0.0031					ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2044-2046)Gcg>Acg		Smith-Magenis syndrome chromosome region, candidate 8							74	72	72					17																	18221147		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18221147G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2044G>A	17.37:g.18221147G>A	ENSP00000385025:p.Ala682Thr						p.A682T	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2524	+			682					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2044G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697484	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.44881	0.91	5.87	3.89	0.44902	.	0.323922	0.33127	N	0.005241	T	0.26448	0.0646	N	0.19112	0.55	0.25367	N	0.988735	B	0.15141	0.012	B	0.12156	0.007	T	0.14476	-1.0471	10	0.30854	T	0.27	-7.5156	9.9537	0.41653	0.2648:0.0:0.7352:0.0	.	682	Q8TEV9	SMCR8_HUMAN	T	682	ENSP00000385025:A682T	ENSP00000385025:A682T	A	+	1	0	SMCR8	18161872	0.523000	0.26274	0.686000	0.30086	0.813000	0.45954	1.651000	0.37302	0.942000	0.37525	0.655000	0.94253	GCG		0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		58	248	0	0	0	1	0	58	248					A	18221147	G	A	18221147	3	1	79	1	0	0	0	0	1	0	0	0	14842	971	34	2	2046	2	SMCR8	17	18221147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300	18221147	62974063	17041	27358											
SHMT1	6470	broad.mit.edu	37	chr17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccacgggacgtcagtgCtggggtccccagccgcagtc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S|SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	407					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1219-1221)Gca>Tca		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						47	49	48					17																	18232655		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232655C>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1219G>T	17.37:g.18232655C>A	ENSP00000318868:p.Ala407Ser					SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S	p.A407S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			11	1353	-			407					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1219G>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519860	0.96416	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.55588	0.51;1.22;0.51;1.22	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.988;1.0	D	0.83833	0.0253	10	0.87932	D	0	-14.926	19.7926	0.96466	0.0:1.0:0.0:0.0	.	368;407	P34896-2;P34896	.;GLYC_HUMAN	S	407;182;327;269;368	ENSP00000318868:A407S;ENSP00000345881:A327S;ENSP00000440089:A269S;ENSP00000318805:A368S	ENSP00000318868:A407S	A	-	1	0	SHMT1	18173380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.761000	0.94854	0.655000	0.94253	GCA		0.502	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		53	159	1	0	7.89702e-26	1	9.07718e-26	53	159					A	18232655	C	A	18232655	3	1	79	1	0	0	0	0	1	0	0	0	14335	797	28	3	240	3	SHMT1	17	18232655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11508	18232655	62962555	17042	27359											
TRIM16L	147166	broad.mit.edu	37	chr17	18638416	18638416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatgttggcctgacctgCaaaggcatcgaccagaaagg	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638416C>T	ENST00000449552.2	+	7	2174	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	230	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCCTGACCTGCAAAGGCATCG	0.572																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(688-690)tgC>tgT		tripartite motif containing 16-like							72	67	69					17																	18638416		2203	4300	6503	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638416C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.690C>T	17.37:g.18638416C>T						TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C	p.C230C			Q309B1	TR16L_HUMAN			7	2174	+			230			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.690C>T	CCDS32588.1																																																																																				0.572	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		10	408	0	0	0	1	0	10	408					T	18638416	C	T	18638416	2	4	79	1	0	0	0	0	0	0	0	1	16545	718	25	2		2	TRIM16L	17	18638416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405761	18638416	62556794	17043	27360											
TRIM16L	147166	broad.mit.edu	37	chr17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggccctttctggaggCtcggggtctatattgacttc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCTGGAGGCTCGGGGTCTA	0.517																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(835-837)Ctc>Ttc		tripartite motif containing 16-like							76	77	77					17																	18638561		2203	4300	6503	SO:0001583	missense	147166					cytoplasm		g.chr17:18638561C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.835C>T	17.37:g.18638561C>T	ENSP00000461386:p.Leu279Phe					TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F	p.L279F			Q309B1	TR16L_HUMAN			7	2319	+			279			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.835C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534703	0.27475	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.70631	-0.5;-0.5;-0.5	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.435857	0.21766	U	0.069431	T	0.70211	0.3198	L	0.35644	1.08	0.29799	N	0.832596	D;D;D	0.69078	0.976;0.997;0.976	P;D;P	0.63703	0.812;0.917;0.812	T	0.65080	-0.6255	10	0.87932	D	0	-11.0171	4.6322	0.12507	0.0:0.642:0.2274:0.1306	.	333;495;279	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	F	333;279;279	ENSP00000379239:L333F;ENSP00000379031:L279F;ENSP00000379030:L279F	ENSP00000379030:L279F	L	+	1	0	TRIM16L	18579286	1.000000	0.71417	0.682000	0.30024	0.073000	0.16967	1.577000	0.36515	0.599000	0.29845	0.194000	0.17425	CTC		0.517	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		13	442	0	0	0	1	0	13	442					T	18638561	C	T	18638561	3	4	79	1	0	0	0	0	1	0	0	0	16545	797	28	2	849	2	TRIM16L	17	18638561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	18638561	62556649	17044	27361											
FBXW10	10517	broad.mit.edu	37	chr17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatccttcagaccacacAgggaaaggatttcatctata	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000395665.4	+	1	463	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000308799.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(241-243)cAg>cCg		F-box and WD repeat domain containing 10							82	87	85					17																	18647799		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18647799A>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.242A>C	17.37:g.18647799A>C	ENSP00000379025:p.Gln81Pro					FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395665.4_Missense_Mutation_p.Q81P	p.Q81P			Q5XX13	FBW10_HUMAN			1	461	+			81					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.242A>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	a	4.933	0.173414	0.09391	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.31	0.808	0.18719	.	0.228558	0.34986	U	0.003536	T	0.36193	0.0958	L	0.56769	1.78	0.19775	N	0.999955	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.78314	0.986;0.991;0.969;0.934	T	0.08953	-1.0697	10	0.44086	T	0.13	.	2.7706	0.05333	0.5002:0.0:0.1258:0.374	.	81;81;81;81	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	81	ENSP00000379026:Q81P;ENSP00000310382:Q81P;ENSP00000306937:Q81P;ENSP00000379025:Q81P	ENSP00000306937:Q81P	Q	+	2	0	FBXW10	18588524	0.930000	0.31532	0.877000	0.34402	0.921000	0.55340	1.512000	0.35812	0.372000	0.24591	0.333000	0.21579	CAG		0.388	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		59	573	0	0	0	1	0	59	573					C	18647799	A	C	18647799	3	2	79	1	0	0	0	0	1	0	0	0	5788	188	7	4	244	4	FBXW10	17	18647799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9238	18647799	62547411	17045	27362											
FAM83G	644815	broad.mit.edu	37	chr17	18881119	18881119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgagtgctctctcacctcGaagtactcctctgacacaga	7	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	620					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1858-1860)ttC>ttT		family with sequence similarity 83, member G							31	37	36					17																	18881119		2017	4177	6194	SO:0001819	synonymous_variant	644815							g.chr17:18881119G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1860C>T	17.37:g.18881119G>A						FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.F620F			A6ND36	FA83G_HUMAN			5	2083	-			620					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1860C>T	CCDS42276.1																																																																																				0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			57	267	0	0	0	1	0	57	267					A	18881119	G	A	18881119	2	1	79	1	0	0	0	0	0	0	0	1	5664	1049	37	1		1	FAM83G	17	18881119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233320	18881119	62314091	17046	27363											
FAM83G	644815	broad.mit.edu	37	chr17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatcttcttcttccaccCcatccagcccattggggagc	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	578					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1732-1734)gGg>gTg		family with sequence similarity 83, member G							47	54	52					17																	18881246		1990	4144	6134	SO:0001583	missense	644815							g.chr17:18881246C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1733G>T	17.37:g.18881246C>A	ENSP00000373647:p.Gly578Val					FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.G578V			A6ND36	FA83G_HUMAN			5	1956	-			578					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1733G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685496	0.14973	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.91	0.462	0.16695	.	0.705821	0.14695	N	0.303887	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.10177	-1.0641	10	0.46703	T	0.11	-4.8825	8.4901	0.33095	0.0:0.4611:0.0:0.5389	.	578	A6ND36	FA83G_HUMAN	V	578	ENSP00000373647:G578V;ENSP00000343279:G578V	ENSP00000343279:G578V	G	-	2	0	FAM83G	18821971	0.000000	0.05858	0.002000	0.10522	0.316000	0.28119	0.073000	0.14640	0.225000	0.20959	0.655000	0.94253	GGG		0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			110	502	1	0	7.98965e-42	1	9.7163e-42	110	502					A	18881246	C	A	18881246	3	1	79	1	0	0	0	0	1	0	0	0	5664	623	22	3	746	3	FAM83G	17	18881246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	18881246	62313964	17047	27364											
FAM83G	644815	broad.mit.edu	37	chr17	18881682	18881682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggttccagatgttggggtCgatgatattgatgtagccca	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	ENST00000388995.6	-	5	1520	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	433					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGTTGGGGTCGATGATATTG	0.612																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1297-1299)Gac>Aac		family with sequence similarity 83, member G							22	27	25					17																	18881682		2111	4226	6337	SO:0001583	missense	644815							g.chr17:18881682C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1297G>A	17.37:g.18881682C>T	ENSP00000373647:p.Asp433Asn					FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.D433N			A6ND36	FA83G_HUMAN			5	1520	-			433					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1297G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249984	0.95305	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.20332	2.08;2.08	5.59	5.59	0.84812	.	0.120838	0.56097	D	0.000038	T	0.49558	0.1564	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40997	-0.9533	10	0.45353	T	0.12	-40.7309	19.5945	0.95530	0.0:1.0:0.0:0.0	.	433	A6ND36	FA83G_HUMAN	N	433	ENSP00000373647:D433N;ENSP00000343279:D433N	ENSP00000343279:D433N	D	-	1	0	FAM83G	18822407	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	7.158000	0.77470	2.642000	0.89623	0.561000	0.74099	GAC		0.612	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			11	52	0	0	0	1	0	11	52					T	18881682	C	T	18881682	3	4	79	1	0	0	0	0	1	0	0	0	5664	884	31	1	1182	1	FAM83G	17	18881682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436	18881682	62313528	17048	27365											
FAM83G	644815	broad.mit.edu	37	chr17	18881887	18881887	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctcctgcttctcagaGgagatcttggcaatctcgtc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	364					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1090-1092)tcC>tcA		family with sequence similarity 83, member G							55	61	59					17																	18881887		1955	4151	6106	SO:0001819	synonymous_variant	644815							g.chr17:18881887G>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1092C>A	17.37:g.18881887G>T						FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.S364S			A6ND36	FA83G_HUMAN			5	1315	-			364					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1092C>A	CCDS42276.1																																																																																				0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			69	296	1	0	5.45122e-27	1	6.30096e-27	69	296					T	18881887	G	T	18881887	2	4	79	1	0	0	0	0	0	0	0	1	5664	987	35	3		3	FAM83G	17	18881887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	18881887	62313323	17049	27366											
FAM83G	644815	broad.mit.edu	37	chr17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatcttggcaatctcgtCgacgctcttggccttgacaa	11	11	3	2	rs563466170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	358					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18334	0.0		0.0	False		,,,				2504	0.0					ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1072-1074)Gac>Aac		family with sequence similarity 83, member G							66	73	71					17																	18881907		1993	4158	6151	SO:0001583	missense	644815							g.chr17:18881907C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1072G>A	17.37:g.18881907C>T	ENSP00000373647:p.Asp358Asn					FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.D358N			A6ND36	FA83G_HUMAN			5	1295	-			358					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1072G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156648	0.21454	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15256	2.44;2.44	5.39	5.39	0.77823	.	0.316112	0.30593	N	0.009292	T	0.15478	0.0373	M	0.67953	2.075	0.25909	N	0.983255	P	0.48640	0.913	B	0.33121	0.158	T	0.34800	-0.9814	10	0.22706	T	0.39	-20.4086	12.4985	0.55942	0.0:0.9233:0.0:0.0767	.	358	A6ND36	FA83G_HUMAN	N	358	ENSP00000373647:D358N;ENSP00000343279:D358N	ENSP00000343279:D358N	D	-	1	0	FAM83G	18822632	0.990000	0.36364	0.082000	0.20525	0.045000	0.14185	2.671000	0.46842	2.537000	0.85549	0.491000	0.48974	GAC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			97	402	0	0	0	1	0	97	402					T	18881907	C	T	18881907	3	4	79	1	0	0	0	0	1	0	0	0	5664	884	31	1	1407	1	FAM83G	17	18881907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	18881907	62313303	17050	27367											
SLC5A10	125206	broad.mit.edu	37	chr17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatcgcagtgatgctggCggcgctcatgtcgtcgctga	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000395645.3	+	11	1142	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A308V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(922-924)gCg>gTg		solute carrier family 5 (sodium/sugar cotransporter), member 10							60	49	53					17																	18918395		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918395C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1124C>T	17.37:g.18918395C>T	ENSP00000379007:p.Ala375Val					SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A375V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V	p.A308V			A0PJK1	SC5AA_HUMAN			10	1494	+			375					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.923C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745205	0.89663	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.98;-3.31;-3.31	4.95	4.95	0.65309	.	0.051109	0.85682	D	0.000000	D	0.97810	0.9281	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.992;0.994;0.997;0.998	P;P;P;P;P	0.62382	0.901;0.84;0.901;0.84;0.896	D	0.99441	1.0938	10	0.87932	D	0	.	18.1393	0.89634	0.0:1.0:0.0:0.0	.	339;348;375;391;308	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	V	308;391;308;339;375;348	ENSP00000324346:A308V;ENSP00000379008:A391V;ENSP00000379004:A308V;ENSP00000401875:A339V;ENSP00000379007:A375V;ENSP00000379005:A348V	ENSP00000324346:A308V	A	+	2	0	SLC5A10	18859120	1.000000	0.71417	0.991000	0.47740	0.400000	0.30750	7.647000	0.83462	2.448000	0.82819	0.561000	0.74099	GCG		0.672	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		59	263	0	0	0	1	0	59	263					T	18918395	C	T	18918395	3	4	79	1	0	0	0	0	1	0	0	0	14712	768	27	1	1214	1	SLC5A10	17	18918395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36488	18918395	62276815	17051	27368											
GRAP	10750	broad.mit.edu	37	chr17	18925281	18925281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggctgctcacaggtgCacgggctgcacgtaactccg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000284154.5	-	5	1355	c.645G>A	c.(643-645)gtG>gtA	p.V215V	GRAP_ENST00000395635.1_Silent_p.V186V|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Missense_Mutation_p.C159Y	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	215	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652																																						ENST00000573099.1																			0				large_intestine(1)|urinary_tract(1)	2						c.(475-477)tGc>tAc		GRB2-related adaptor protein							8	11	10					17																	18925281		2187	4286	6473	SO:0001819	synonymous_variant	10750				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity	g.chr17:18925281C>T	U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"SH2 domain containing"	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.645G>A	17.37:g.18925281C>T						GRAP_ENST00000284154.5_Silent_p.V215V|GRAP_ENST00000395635.1_Silent_p.V186V|SLC5A10_ENST00000317977.6_3'UTR	p.C159Y			Q13588	GRAP_HUMAN			4	546	-	all_cancers(12;0.0183)		0			SH3 2.			Missense_Mutation	SNP	ENST00000284154.5	37	c.476G>A	CCDS11202.1																																																																																				0.652	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	NM_006613		16	73	0	0	0	1	0	16	73					T	18925281	C	T	18925281	2	4	79	1	0	0	0	0	0	0	0	1	6783	697	25	2		2	GRAP	17	18925281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6886	18925281	62269929	17052	27369											
MAPK7	5598	broad.mit.edu	37	chr17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaggccagcaggtggCcatcaagaagatccctaatg	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCAGGTGGCCATCAAGAAG	0.522																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(244-246)gCc>gTc		mitogen-activated protein kinase 7							99	95	96					17																	19283107		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding	g.chr17:19283107C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.245C>T	17.37:g.19283107C>T	ENSP00000311005:p.Ala82Val					MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000571657.1_Intron	p.A82V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			3	631	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		82			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.245C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103757	0.94245	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89638	0.3860	10	0.87932	D	0	-16.6401	14.3915	0.66983	0.0:1.0:0.0:0.0	.	82	Q13164	MK07_HUMAN	V	82	ENSP00000311005:A82V;ENSP00000412902:A82V;ENSP00000378968:A82V;ENSP00000378966:A82V	ENSP00000311005:A82V	A	+	2	0	MAPK7	19223700	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.293000	0.78740	2.327000	0.79052	0.460000	0.39030	GCC		0.522	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		37	397	0	0	0	1	0	37	397					T	19283107	C	T	19283107	3	4	79	1	0	0	0	0	1	0	0	0	9323	739	26	2	251	2	MAPK7	17	19283107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357826	19283107	61912103	17053	27370											
MAPK7	5598	broad.mit.edu	37	chr17	19283132	19283132	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaagatccctaatgctttCgatgtggtgaccaatgccaa	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Silent_p.F90F|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.F90F|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.F90F(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527																																						ENST00000308406.5																			1	Substitution - coding silent(1)	p.F90F(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(268-270)ttC>ttT		mitogen-activated protein kinase 7							114	107	109					17																	19283132		2203	4300	6503	SO:0001819	synonymous_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding	g.chr17:19283132C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.270C>T	17.37:g.19283132C>T						MAPK7_ENST00000395602.4_Silent_p.F90F|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000571657.1_Intron	p.F90F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			3	656	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		90			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	c.270C>T	CCDS11206.1																																																																																				0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		78	377	0	0	0	1	0	78	377					T	19283132	C	T	19283132	2	4	79	1	0	0	0	0	0	0	0	1	9323	883	31	1		1	MAPK7	17	19283132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	19283132	61912078	17054	27371											
MAPK7	5598	broad.mit.edu	37	chr17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgctcaagtctttgaGgagccggctcagaggtgcct	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	488	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGTCTTTGAGGAGCCGGCTC	0.572																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1462-1464)aGg>aTg		mitogen-activated protein kinase 7							26	29	28					17																	19284985		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding	g.chr17:19284985G>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1463G>T	17.37:g.19284985G>T	ENSP00000311005:p.Arg488Met					MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron	p.R488M	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1849	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		488			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1463G>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831813	0.16820	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76839	-0.76;-1.05;-0.76;-0.76	4.25	3.28	0.37604	.	0.054356	0.64402	D	0.000001	T	0.80660	0.4665	L	0.40543	1.245	0.36651	D	0.877375	D	0.76494	0.999	D	0.74674	0.984	T	0.81874	-0.0732	10	0.44086	T	0.13	-18.1555	10.0352	0.42125	0.0997:0.0:0.9003:0.0	.	488	Q13164	MK07_HUMAN	M	488;349;488;488	ENSP00000311005:R488M;ENSP00000299612:R349M;ENSP00000378968:R488M;ENSP00000378966:R488M	ENSP00000299612:R349M	R	+	2	0	MAPK7	19225578	1.000000	0.71417	0.399000	0.26333	0.027000	0.11550	2.565000	0.45939	1.011000	0.39340	-0.254000	0.11334	AGG		0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		24	125	1	0	1.55469e-16	1	1.70887e-16	24	125					T	19284985	G	T	19284985	3	4	79	1	0	0	0	0	1	0	0	0	9323	1000	35	3	1473	3	MAPK7	17	19284985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1853	19284985	61910225	17055	27372											
MAPK7	5598	broad.mit.edu	37	chr17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggctggctacggtgttGgctttgacctggaggaattc	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	744	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTACGGTGTTGGCTTTGACCT	0.577																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2230-2232)Ggc>Agc		mitogen-activated protein kinase 7							152	146	148					17																	19286192		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding	g.chr17:19286192G>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2230G>A	17.37:g.19286192G>A	ENSP00000311005:p.Gly744Ser					MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR	p.G744S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			6	2616	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		744			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2230G>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259303	0.95368	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.82526	-1.41;-1.62;-1.41;-1.41	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.90678	0.4603	10	0.87932	D	0	-27.6555	16.7641	0.85520	0.0:0.0:1.0:0.0	.	744	Q13164	MK07_HUMAN	S	744;605;744;744	ENSP00000311005:G744S;ENSP00000299612:G605S;ENSP00000378968:G744S;ENSP00000378966:G744S	ENSP00000299612:G605S	G	+	1	0	MAPK7	19226785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.830000	0.92063	2.565000	0.86533	0.491000	0.48974	GGC		0.577	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		91	404	0	0	0	1	0	91	404					A	19286192	G	A	19286192	3	1	79	1	0	0	0	0	1	0	0	0	9323	1348	47	2	2248	2	MAPK7	17	19286192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1207	19286192	61909018	17056	27373											
MAPK7	5598	broad.mit.edu	37	chr17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggctgacctgcctgacCtccaggacccctgaggcccc	11	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	813					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGACCTCCAGGACCC	0.597																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2437-2439)Ctc>Atc		mitogen-activated protein kinase 7							51	49	49					17																	19286530		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding	g.chr17:19286530C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2437C>A	17.37:g.19286530C>A	ENSP00000311005:p.Leu813Ile					MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR	p.L813I	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			7	2823	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		813					Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2437C>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182562	0.78677	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000022	T	0.82130	0.4970	L	0.54323	1.7	0.29680	N	0.841812	P	0.51057	0.941	P	0.49332	0.607	T	0.81733	-0.0798	10	0.87932	D	0	-18.1186	15.6104	0.76713	0.0:1.0:0.0:0.0	.	813	Q13164	MK07_HUMAN	I	813;674;813;813	ENSP00000311005:L813I;ENSP00000299612:L674I;ENSP00000378968:L813I;ENSP00000378966:L813I	ENSP00000299612:L674I	L	+	1	0	MAPK7	19227123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	2.269000	0.75478	0.491000	0.48974	CTC		0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		45	233	1	0	3.21987e-24	1	3.67739e-24	45	233					A	19286530	C	A	19286530	3	1	79	1	0	0	0	0	1	0	0	0	9323	681	24	3	2459	3	MAPK7	17	19286530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	19286530	61908680	17057	27374											
MFAP4	4239	broad.mit.edu	37	chr17	19287868	19287868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattggcataagagaggtgGgagccacctaggtagaagcc	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000299610.4	-	6	759	c.675C>T	c.(673-675)tcC>tcT	p.S225S	MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000395592.2_Silent_p.S249S|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	225	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(745-747)tcC>tcT		microfibrillar-associated protein 4							45	45	45					17																	19287868		2203	4300	6503	SO:0001819	synonymous_variant	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19287868G>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.675C>T	17.37:g.19287868G>A						MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000299610.4_Silent_p.S225S	p.S249S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			6	818	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		225			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	37	c.747C>T	CCDS11208.1																																																																																				0.567	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		34	134	0	0	0	1	0	34	134					A	19287868	G	A	19287868	2	1	79	1	0	0	0	0	0	0	0	1	9558	1219	43	2		2	MFAP4	17	19287868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1338	19287868	61907342	17058	27375											
MFAP4	4239	broad.mit.edu	37	chr17	19288434	19288434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgccatcctcaaagccTgccacaaagagggtgtagcc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000299610.4	-	5	582	c.498A>G	c.(496-498)gcA>gcG	p.A166A	MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000395592.2_Silent_p.A190A|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(568-570)gcA>gcG		microfibrillar-associated protein 4							127	104	112					17																	19288434		2203	4300	6503	SO:0001819	synonymous_variant	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288434T>C	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.498A>G	17.37:g.19288434T>C						MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000299610.4_Silent_p.A166A	p.A190A	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			5	641	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		166			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	37	c.570A>G	CCDS11208.1																																																																																				0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		102	470	0	0	0	1	0	102	470					C	19288434	T	C	19288434	2	2	79	1	0	0	0	0	0	0	0	1	9558	1567	55	4		4	MFAP4	17	19288434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	19288434	61906776	17059	27376											
MFAP4	4239	broad.mit.edu	37	chr17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtagatgaggtacacgCcgtctgactggtagccctgg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000299610.4	-	3	242	c.158G>A	c.(157-159)gGc>gAc	p.G53D	MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000395592.2_Missense_Mutation_p.G77D|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	53	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(229-231)gGc>gAc		microfibrillar-associated protein 4							86	66	73					17																	19289705		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19289705C>T	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.158G>A	17.37:g.19289705C>T	ENSP00000299610:p.Gly53Asp					MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000299610.4_Missense_Mutation_p.G53D	p.G77D	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			3	301	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		53			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.230G>A	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716638	0.89205	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000010	T	0.63189	0.2490	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66846	-0.5820	10	0.59425	D	0.04	.	16.5105	0.84283	0.0:1.0:0.0:0.0	.	53;77	P55083;A8MVM2	MFAP4_HUMAN;.	D	77;53	ENSP00000378957:G77D;ENSP00000299610:G53D	ENSP00000299610:G53D	G	-	2	0	MFAP4	19230298	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.083000	0.76859	2.499000	0.84300	0.555000	0.69702	GGC		0.617	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		32	120	0	0	0	1	0	32	120					T	19289705	C	T	19289705	3	4	79	1	0	0	0	0	1	0	0	0	9558	739	26	2	625	2	MFAP4	17	19289705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271	19289705	61905505	17060	27377											
RNF112	7732	broad.mit.edu	37	chr17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactggaacgaggggcgcGccgtggccaggggggacaga	21	9	0	1	rs377607213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1237-1239)Gcc>Acc		ring finger protein 112		G	THR/ALA	1,3899		0,1,1949	26	31	29		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG		0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318461G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	17.37:g.19318461G>A	ENSP00000454919:p.Ala413Thr						p.A413T	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			11	1452	+			413					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1237G>A	CCDS58529.1																																																																																				0.662	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		77	282	0	0	0	1	0	77	282					A	19318461	G	A	19318461	3	1	79	1	0	0	0	0	1	0	0	0	13476	1087	38	1	989	1	RNF112	17	19318461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28756	19318461	61876749	17061	27378											
SLC47A2	146802	broad.mit.edu	37	chr17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccaccgcgagggtcaccGatgccagctccaccttgccc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000325411.5	-	2	256	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000350657.5_Missense_Mutation_p.S69L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GAGGGTCACCGATGCCAGCTC	0.637																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(205-207)tCg>tTg		solute carrier family 47 (multidrug and toxin extrusion), member 2							80	79	79					17																	19618448		2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19618448G>A	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.206C>T	17.37:g.19618448G>A	ENSP00000326671:p.Ser69Leu					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.S69L	p.S69L	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			2	380	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		69					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.206C>T	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108446	0.20714	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	4.55	4.55	0.56014	.	0.508910	0.17472	U	0.173074	T	0.49081	0.1536	M	0.87547	2.89	0.09310	N	1	P;P;B	0.50528	0.936;0.936;0.41	P;P;B	0.48334	0.574;0.574;0.147	T	0.53585	-0.8418	10	0.87932	D	0	-7.3266	15.1595	0.72771	0.0:0.0:1.0:0.0	.	69;69;69	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	69;69;20;69	ENSP00000338084:S69L;ENSP00000326671:S69L;ENSP00000391848:S69L	ENSP00000326671:S69L	S	-	2	0	SLC47A2	19559040	0.107000	0.21998	0.004000	0.12327	0.274000	0.26718	3.066000	0.50002	2.252000	0.74401	0.305000	0.20034	TCG		0.637	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		90	403	0	0	0	1	0	90	403					A	19618448	G	A	19618448	3	1	79	1	0	0	0	0	1	0	0	0	14698	1059	37	1	1666	1	SLC47A2	17	19618448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299987	19618448	61576762	17062	27379											
ALDH3A1	218	broad.mit.edu	37	chr17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggggactgggggtccaCgtccgtgaggatggtggggg	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000485231.1_5'Flank|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	324					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGGGGGTCCACGTCCGTGAGG	0.632																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(970-972)Gtg>Atg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						42	40	41					17																	19642967		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642967C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.970G>A	17.37:g.19642967C>T	ENSP00000411821:p.Val324Met					ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000395555.3_Intron	p.V324M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1299	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		324					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.970G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885704	0.91814	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.122950	0.56097	D	0.000037	D	0.92273	0.7549	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	D	0.94413	0.7633	10	0.87932	D	0	-20.6296	16.9051	0.86124	0.0:1.0:0.0:0.0	.	324;441;324	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	324;382;324;324;251;324	ENSP00000225740:V324M;ENSP00000388469:V324M;ENSP00000411821:V324M;ENSP00000389766:V324M	ENSP00000225740:V324M	V	-	1	0	ALDH3A1	19583559	0.997000	0.39634	0.918000	0.36340	0.909000	0.53808	7.420000	0.80191	2.232000	0.73038	0.655000	0.94253	GTG		0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		26	134	0	0	0	1	0	26	134					T	19642967	C	T	19642967	3	4	79	1	0	0	0	0	1	0	0	0	497	536	19	1	407	1	ALDH3A1	17	19642967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24519	19642967	61552243	17063	27380											
AKAP10	11216	broad.mit.edu	37	chr17	19835269	19835269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttataataaagattgctgGacaaaaagccaggcaaaaag	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	ENST00000225737.6	-	10	1647	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	497	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAGATTGCTGGACAAAAAGCC	0.353																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1489-1491)tCc>tTc		A kinase (PRKA) anchor protein 10							32	37	35					17																	19835269		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835269G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1490C>T	17.37:g.19835269G>A	ENSP00000225737:p.Ser497Phe					AKAP10_ENST00000395536.3_Intron	p.S497F	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			10	1647	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		497			RGS 2.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1490C>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884801	0.91814	.	.	ENSG00000108599	ENST00000225737	T	0.22945	1.93	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.40543	1.245	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	T	0.26744	-1.0094	10	0.72032	D	0.01	-7.8725	19.0829	0.93190	0.0:0.0:1.0:0.0	.	497	O43572	AKA10_HUMAN	F	497	ENSP00000225737:S497F	ENSP00000225737:S497F	S	-	2	0	AKAP10	19775861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.102000	0.94226	2.761000	0.94854	0.644000	0.83932	TCC		0.353	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		10	246	0	0	0	1	0	10	246					A	19835269	G	A	19835269	3	1	79	1	0	0	0	0	1	0	0	0	446	1174	41	2	522	2	AKAP10	17	19835269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192302	19835269	61359941	17064	27381											
AKAP10	11216	broad.mit.edu	37	chr17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttttgtggggaatgtAcggatattgaagctataatt	11	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000225737.6	-	3	306	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	50					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGGGAATGTACGGATATTGA	0.358																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(148-150)gTa>gCa		A kinase (PRKA) anchor protein 10							98	94	96					17																	19866323		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19866323A>G	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.149T>C	17.37:g.19866323A>G	ENSP00000225737:p.Val50Ala					AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	p.V50A	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			3	306	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		50					B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.149T>C	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471731	0.26423	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.35421	1.31	5.87	3.66	0.41972	.	0.219160	0.47852	N	0.000203	T	0.30727	0.0774	L	0.51422	1.61	0.23568	N	0.997396	B;B;B	0.34015	0.001;0.435;0.084	B;B;B	0.32762	0.002;0.152;0.03	T	0.14282	-1.0478	10	0.46703	T	0.11	-2.4956	9.4773	0.38880	0.857:0.0:0.143:0.0	.	50;50;50	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	A	50	ENSP00000225737:V50A	ENSP00000225737:V50A	V	-	2	0	AKAP10	19806915	1.000000	0.71417	0.918000	0.36340	0.886000	0.51366	3.067000	0.50010	0.483000	0.27608	-0.361000	0.07541	GTA		0.358	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		75	446	0	0	0	1	0	75	446					G	19866323	A	G	19866323	3	3	79	1	0	0	0	0	1	0	0	0	446	391	14	4	1891	4	AKAP10	17	19866323	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31054	19866323	61328887	17065	27382											
CYTSB	92521	broad.mit.edu	37	chr17	20135100	20135100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctggaggaacagaagTcagacctggagaggcagctg	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135100T>C	ENST00000261503.5	+	6	2152	c.2101T>C	c.(2101-2103)Tca>Cca	p.S701P	SPECC1_ENST00000395530.2_Missense_Mutation_p.S620P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S701P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S620P|SPECC1_ENST00000395522.2_Missense_Mutation_p.S620P|SPECC1_ENST00000536879.1_Missense_Mutation_p.S41P|SPECC1_ENST00000395527.4_Missense_Mutation_p.S701P|SPECC1_ENST00000584527.1_Missense_Mutation_p.S119P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_3'UTR	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	701					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGAACAGAAGTCAGACCTGGA	0.488																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1858-1860)Tca>Cca		sperm antigen with calponin homology and coiled-coil domains 1							109	110	109					17																	20135100		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20135100T>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2101T>C	17.37:g.20135100T>C	ENSP00000261503:p.Ser701Pro					SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395527.4_Missense_Mutation_p.S701P|SPECC1_ENST00000395522.2_Missense_Mutation_p.S620P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S620P|SPECC1_ENST00000536879.1_Missense_Mutation_p.S41P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S701P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.S701P|SPECC1_ENST00000584527.1_Missense_Mutation_p.S119P	p.S620P	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	4	2066	+			701					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1858T>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095805	0.36952	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;D;D;D;D	0.83591	-0.09;-1.74;-1.71;-1.71;-1.71	4.15	3.07	0.35406	.	0.928503	0.09088	N	0.850366	T	0.76737	0.4029	L	0.36672	1.1	0.26753	N	0.970157	B;P;P;P;B	0.40250	0.323;0.709;0.709;0.709;0.323	B;B;B;B;B	0.43754	0.162;0.353;0.353;0.43;0.162	T	0.66799	-0.5832	10	0.39692	T	0.17	-5.9859	4.8122	0.13349	0.0:0.2174:0.0:0.7825	.	701;620;620;701;701	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	P	701;701;701;41;620;620;620	ENSP00000261503:S701P;ENSP00000378900:S701P;ENSP00000438294:S41P;ENSP00000378893:S620P;ENSP00000378896:S620P	ENSP00000261503:S701P	S	+	1	0	SPECC1	20075692	0.899000	0.30636	1.000000	0.80357	0.985000	0.73830	1.331000	0.33793	1.863000	0.54032	0.460000	0.39030	TCA		0.488	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		41	455	0	0	0	1	0	41	455					C	20135100	T	C	20135100	3	2	79	1	0	0	0	0	1	0	0	0	4221	1667	58	4	2163	4	CYTSB	17	20135100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	268777	20135100	61060110	17066	27383											
CYTSB	92521	broad.mit.edu	37	chr17	20135688	20135688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggatgtgcagggccacgGcagggtggtcaccagcagag	20	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135688G>T	ENST00000261503.5	+	7	2372	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V	SPECC1_ENST00000395530.2_Missense_Mutation_p.G693V|SPECC1_ENST00000395529.3_Missense_Mutation_p.G774V|SPECC1_ENST00000395525.3_Missense_Mutation_p.G693V|SPECC1_ENST00000395522.2_Missense_Mutation_p.G693V|SPECC1_ENST00000536879.1_Missense_Mutation_p.G114V|SPECC1_ENST00000395527.4_Missense_Mutation_p.G774V|SPECC1_ENST00000584527.1_Missense_Mutation_p.G192V|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_3'UTR	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	774					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGGGCCACGGCAGGGTGGTC	0.642																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2077-2079)gGc>gTc		sperm antigen with calponin homology and coiled-coil domains 1							20	21	20					17																	20135688		2202	4300	6502	SO:0001583	missense	92521					nucleus		g.chr17:20135688G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2321G>T	17.37:g.20135688G>T	ENSP00000261503:p.Gly774Val					SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395527.4_Missense_Mutation_p.G774V|SPECC1_ENST00000395522.2_Missense_Mutation_p.G693V|SPECC1_ENST00000395525.3_Missense_Mutation_p.G693V|SPECC1_ENST00000536879.1_Missense_Mutation_p.G114V|SPECC1_ENST00000395529.3_Missense_Mutation_p.G774V|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.G774V|SPECC1_ENST00000584527.1_Missense_Mutation_p.G192V	p.G693V	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	5	2286	+			774					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2078G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173358	0.38413	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.22	3.25	0.37280	.	0.454273	0.30639	N	0.009192	T	0.25232	0.0613	N	0.08118	0	0.49483	D	0.999797	B;P;P;P;B	0.43633	0.136;0.789;0.813;0.631;0.136	B;B;B;B;B	0.42692	0.091;0.268;0.395;0.395;0.091	T	0.10154	-1.0642	10	0.52906	T	0.07	-1.4567	10.6138	0.45439	0.0966:0.0:0.9034:0.0	.	774;693;693;774;774	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	V	774;774;774;114;693;693;693	ENSP00000261503:G774V;ENSP00000378900:G774V;ENSP00000438294:G114V;ENSP00000378893:G693V;ENSP00000378896:G693V	ENSP00000261503:G774V	G	+	2	0	SPECC1	20076280	1.000000	0.71417	0.866000	0.34008	0.636000	0.38137	3.370000	0.52372	1.365000	0.46057	0.655000	0.94253	GGC		0.642	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		29	129	1	0	5.45727e-16	1	5.98072e-16	29	129					T	20135688	G	T	20135688	3	4	79	1	0	0	0	0	1	0	0	0	4221	1203	42	3	2387	3	CYTSB	17	20135688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	588	20135688	61059522	17067	27384											
CYTSB	92521	broad.mit.edu	37	chr17	20156834	20156834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaggcattcgacttacaGcagtgtgcggccagccagca	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156834G>T	ENST00000261503.5	+	10	2666	c.2615G>T	c.(2614-2616)aGc>aTc	p.S872I	SPECC1_ENST00000395530.2_Missense_Mutation_p.S791I|SPECC1_ENST00000536879.1_Missense_Mutation_p.S212I|SPECC1_ENST00000395527.4_Missense_Mutation_p.S872I|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	872					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGACTTACAGCAGTGTGCGG	0.488																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2371-2373)aGc>aTc		sperm antigen with calponin homology and coiled-coil domains 1							89	72	78					17																	20156834		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20156834G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2615G>T	17.37:g.20156834G>T	ENSP00000261503:p.Ser872Ile					SPECC1_ENST00000395527.4_Missense_Mutation_p.S872I|SPECC1_ENST00000536879.1_Missense_Mutation_p.S212I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.S872I	p.S791I	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	8	2580	+			872					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2372G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671723	0.47781	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.57907	0.37;0.37	4.68	2.69	0.31865	.	0.370287	0.29572	N	0.011763	T	0.55641	0.1933	M	0.64997	1.995	0.09310	N	1	P;P;P	0.52061	0.774;0.95;0.88	P;P;P	0.52514	0.498;0.701;0.655	T	0.46133	-0.9213	10	0.45353	T	0.12	-6.4143	7.2694	0.26248	0.201:0.0:0.799:0.0	.	872;791;872	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	I	872;872;212;791	ENSP00000261503:S872I;ENSP00000438294:S212I	ENSP00000261503:S872I	S	+	2	0	SPECC1	20097426	0.227000	0.23707	0.034000	0.17996	0.066000	0.16364	0.452000	0.21795	0.701000	0.31803	0.650000	0.86243	AGC		0.488	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		31	201	1	0	2.09667e-21	1	2.36065e-21	31	201					T	20156834	G	T	20156834	3	4	79	1	0	0	0	0	1	0	0	0	4221	971	34	3	2719	3	CYTSB	17	20156834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21146	20156834	61038376	17068	27385											
CYTSB	92521	broad.mit.edu	37	chr17	20156861	20156861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagccagcagaggggTgactcaacgcttggaccttc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156861T>C	ENST00000261503.5	+	10	2693	c.2642T>C	c.(2641-2643)gTg>gCg	p.V881A	SPECC1_ENST00000395530.2_Missense_Mutation_p.V800A|SPECC1_ENST00000536879.1_Missense_Mutation_p.V221A|SPECC1_ENST00000395527.4_Missense_Mutation_p.V881A|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	881					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCAGAGGGGTGACTCAACGC	0.468																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2398-2400)gTg>gCg		sperm antigen with calponin homology and coiled-coil domains 1							101	81	88					17																	20156861		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20156861T>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2642T>C	17.37:g.20156861T>C	ENSP00000261503:p.Val881Ala					SPECC1_ENST00000395527.4_Missense_Mutation_p.V881A|SPECC1_ENST00000536879.1_Missense_Mutation_p.V221A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.V881A	p.V800A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	8	2607	+			881					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2399T>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	0.142	-1.101448	0.01828	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.44482	0.92;0.92	4.68	-3.92	0.04155	.	0.799614	0.11692	N	0.538767	T	0.17577	0.0422	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.31420	-0.9944	10	0.07813	T	0.8	-0.8192	1.832	0.03132	0.1337:0.3288:0.1377:0.3998	.	881;800;881	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	A	881;881;221;800	ENSP00000261503:V881A;ENSP00000438294:V221A	ENSP00000261503:V881A	V	+	2	0	SPECC1	20097453	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.438000	0.06905	-0.947000	0.03673	-0.263000	0.10527	GTG		0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		32	191	0	0	0	1	0	32	191					C	20156861	T	C	20156861	3	2	79	1	0	0	0	0	1	0	0	0	4221	1696	59	4	2746	4	CYTSB	17	20156861	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27	20156861	61038349	17069	27386											
LGALS9B	284194	broad.mit.edu	37	chr17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaaggcgatgtgGctcccagagcacaggttgat	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	263	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(787-789)agC>agA		lectin, galactoside-binding, soluble, 9B							70	66	67					17																	20354929		2202	4299	6501	SO:0001583	missense	284194						sugar binding	g.chr17:20354929G>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"Lectins, galactoside-binding"	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.789C>A	17.37:g.20354929G>T	ENSP00000388841:p.Ser263Arg					LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R	p.S263R			Q3B8N2	LEG9B_HUMAN			10	852	-			263			Galectin 2.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.789C>A		.	.	.	.	.	.	.	.	.	.	G	9.204	1.029124	0.19512	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.871	0.19107	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.866267	0.10476	N	0.670136	T	0.46073	0.1374	M	0.72353	2.195	0.27223	N	0.959618	B;B	0.27853	0.122;0.191	B;B	0.34452	0.183;0.098	T	0.50145	-0.8862	9	0.56958	D	0.05	.	4.1324	0.10156	0.6148:0.0:0.3852:0.0	.	263;262	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	262;263	.	ENSP00000315564:S263R	S	-	3	2	LGALS9B	20295521	0.000000	0.05858	0.993000	0.49108	0.611000	0.37282	-0.391000	0.07323	0.239000	0.21243	0.194000	0.17425	AGC		0.577	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		76	345	1	0	6.09681e-45	1	7.46776e-45	76	345					T	20354929	G	T	20354929	3	4	79	1	0	0	0	0	1	0	0	0	8781	1194	42	3	289	3	LGALS9B	17	20354929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198068	20354929	60840281	17070	27387											
KCNJ12	3768	broad.mit.edu	37	chr17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaagaagaatggccagtGcaacattgagttcgccaaca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	53					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AATGGCCAGTGCAACATTGAG	0.602										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(157-159)tGc>tAc		potassium inwardly-rectifying channel, subfamily J, member 12							181	123	143					17																	21318812		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318812G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.158G>A	17.37:g.21318812G>A	ENSP00000463778:p.Cys53Tyr	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	p.C53Y	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1053	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.158G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267354	0.80469	.	.	ENSG00000184185	ENST00000331718	D	0.95482	-3.72	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	53	Q14500	IRK12_HUMAN	Y	53	ENSP00000328150:C53Y	ENSP00000328150:C53Y	C	+	2	0	KCNJ12	21259405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGC		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		16	332	0	0	0	1	0	16	332					A	21318812	G	A	21318812	3	1	79	1	0	0	0	0	1	0	0	0	8076	1319	46	2	160	2	KCNJ12	17	21318812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	963883	21318812	59876398	17071	27388											
KCNJ12	3768	broad.mit.edu	37	chr17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctcatgtggcgtgtgGgtaacctgcgcaagagccac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	216					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGGCGTGTGGGTAACCTGCG	0.642										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(646-648)Ggt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 12							87	72	77					17																	21319300		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319300G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.646G>T	17.37:g.21319300G>T	ENSP00000463778:p.Gly216Cys	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	p.G216C	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1541	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.646G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383461	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.95622	-3.76	5.32	5.32	0.75619	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	0.97607	0.9216	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98276	1.0506	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	216	Q14500	IRK12_HUMAN	C	216	ENSP00000328150:G216C	ENSP00000328150:G216C	G	+	1	0	KCNJ12	21259893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GGT		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		29	305	1	0	4.40665e-25	1	5.05158e-25	29	305					T	21319300	G	T	21319300	3	4	79	1	0	0	0	0	1	0	0	0	8076	1232	43	3	648	3	KCNJ12	17	21319300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488	21319300	59875910	17072	27389											
KCNJ12	3768	broad.mit.edu	37	chr17	21319408	21319408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggaccagatcgacatcGatgtgggcttcgacaagggc	14	11	0	1	rs145578286	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319408G>A	ENST00000583088.1	+	3	1649	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	252					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GATCGACATCGATGTGGGCTT	0.627										Prostate(3;0.18)			.|||	6	0.00119808	0.0008	0.0014	5008	,	,		41268	0.0		0.004	False		,,,				2504	0.0					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(754-756)Gat>Aat		potassium inwardly-rectifying channel, subfamily J, member 12		G	ASN/ASP	0,4406		0,0,2203	133	97	109		754	4.4	0.1	17	dbSNP_134	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	KCNJ12	NM_021012.4	23	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	benign	252/434	21319408	9,12997	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319408G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.754G>A	17.37:g.21319408G>A	ENSP00000463778:p.Asp252Asn	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	p.D252N	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1649	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.754G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025138	0.08054	0.0	0.001047	ENSG00000184185	ENST00000331718	D	0.93604	-3.25	5.42	4.44	0.53790	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.054033	0.64402	D	0.000001	T	0.79896	0.4525	N	0.03608	-0.345	0.41262	D	0.98678	B	0.13145	0.007	B	0.10450	0.005	T	0.72950	-0.4136	10	0.02654	T	1	.	9.037	0.36293	0.0735:0.0:0.778:0.1485	.	252	Q14500	IRK12_HUMAN	N	252	ENSP00000328150:D252N	ENSP00000328150:D252N	D	+	1	0	KCNJ12	21260001	1.000000	0.71417	0.112000	0.21494	0.991000	0.79684	4.590000	0.61013	1.279000	0.44446	0.650000	0.86243	GAT		0.627	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		34	363	0	0	0	1	0	34	363					A	21319408	G	A	21319408	3	1	79	1	0	0	0	0	1	0	0	0	8076	1058	37	1	756	1	KCNJ12	17	21319408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	21319408	59875802	17073	27390											
KSR1	8844	broad.mit.edu	37	chr17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgctccatctccgtgTcagctctgcccgcctcagac	8	20	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000319524.6	+	4	691	c.691T>C	c.(691-693)Tca>Cca	p.S231P	KSR1_ENST00000268763.6_Missense_Mutation_p.S94P|KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000398988.3_Missense_Mutation_p.S94P			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	231					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(280-282)Tca>Cca		kinase suppressor of ras 1							24	30	28					17																	25909842		2098	4216	6314	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909842T>C	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.691T>C	17.37:g.25909842T>C	ENSP00000323178:p.Ser231Pro					KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000319524.6_Missense_Mutation_p.S231P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P	p.S94P	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	725	+	Lung NSC(42;0.00836)		229					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.280T>C		.	.	.	.	.	.	.	.	.	.	T	13.00	2.106036	0.37145	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	.	0.124970	0.56097	D	0.000026	T	0.00845	0.0028	L	0.46157	1.445	0.41067	D	0.985425	D	0.65815	0.995	P	0.60345	0.873	D	0.87448	0.2399	10	0.26408	T	0.33	.	14.7786	0.69749	0.0:0.0:0.0:1.0	.	229	Q8IVT5	KSR1_HUMAN	P	231;231;94;94	ENSP00000323178:S231P;ENSP00000438795:S231P;ENSP00000268763:S94P	ENSP00000268763:S94P	S	+	1	0	KSR1	22933969	1.000000	0.71417	0.998000	0.56505	0.165000	0.22458	3.373000	0.52394	2.176000	0.68965	0.374000	0.22700	TCA		0.706	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		35	139	0	0	0	1	0	35	139					C	25909842	T	C	25909842	3	2	79	1	0	0	0	0	1	0	0	0	8612	1667	58	4	286	4	KSR1	17	25909842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4590434	25909842	55285368	17074	27391											
KSR1	8844	broad.mit.edu	37	chr17	25917918	25917918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgaagtgcaagcattgCaggtgatgggaagaggagtg	19	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000319524.6	+	7	1128	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000398988.3_Silent_p.C239C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	376					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(715-717)tgC>tgT		kinase suppressor of ras 1							43	44	44					17																	25917918		2005	4184	6189	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25917918C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1128C>T	17.37:g.25917918C>T						KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000319524.6_Silent_p.C376C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR	p.C239C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	8	1162	+	Lung NSC(42;0.00836)		374					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.717C>T		.	.	.	.	.	.	.	.	.	.	c	15.31	2.795145	0.50208	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5611	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	.	Q	+	1	0	KSR1	22942045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.621000	0.54210	2.647000	0.89833	0.486000	0.48141	CAG		0.522	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		17	70	0	0	0	1	0	17	70					T	25917918	C	T	25917918	2	4	79	1	0	0	0	0	0	0	0	1	8612	718	25	2		2	KSR1	17	25917918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8076	25917918	55277292	17075	27392											
KSR1	8844	broad.mit.edu	37	chr17	25932780	25932780	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccggcagacgcggcatgaGaacgtggtgctcttcatggg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000319524.6	+	15	2001	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	KSR1_ENST00000268763.6_Silent_p.E530E|KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000398988.3_Silent_p.E530E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1588-1590)gaG>gaA		kinase suppressor of ras 1							20	22	21					17																	25932780		2044	4187	6231	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932780G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2001G>A	17.37:g.25932780G>A						KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000319524.6_Silent_p.E667E|KSR1_ENST00000268763.6_Silent_p.E530E	p.E530E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2035	+	Lung NSC(42;0.00836)		665					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1590G>A		.	.	.	.	.	.	.	.	.	.	G	8.744	0.919764	0.17982	.	.	ENSG00000141068	ENST00000398988	T	0.79454	-1.27	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66019	-0.6027	7	0.18710	T	0.47	.	11.3617	0.49646	0.1457:0.0:0.8543:0.0	.	.	.	.	K	381	ENSP00000381958:E381K	ENSP00000381958:E381K	E	+	1	0	KSR1	22956907	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.664000	0.68045	0.768000	0.33290	-0.140000	0.14226	GAA		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		26	118	0	0	0	1	0	26	118					A	25932780	G	A	25932780	2	1	79	1	0	0	0	0	0	0	0	1	8612	933	33	2		2	KSR1	17	25932780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14862	25932780	55262430	17076	27393											
KSR1	8844	broad.mit.edu	37	chr17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaagggcatcgtacacaaaGatctcaaatctaagaacgtc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000319524.6	+	17	2197	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000582410.1_5'Flank|KSR1_ENST00000398988.3_Missense_Mutation_p.D596Y			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1786-1788)Gat>Tat		kinase suppressor of ras 1							116	114	115					17																	25936261		2021	4201	6222	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25936261G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2197G>T	17.37:g.25936261G>T	ENSP00000323178:p.Asp733Tyr					KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D733Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y	p.D596Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	18	2231	+	Lung NSC(42;0.00836)		731					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1786G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924694|4.924694	0.92319|0.92319	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91620|0.91620	0.7352|0.7352	H|H	0.99325|0.99325	4.515|4.515	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	0.94688|0.94688	0.7871|0.7871	10|5	0.87932|.	D|.	0|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	731;711|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Y|I	733;711;596;596|446	ENSP00000323178:D733Y;ENSP00000438795:D711Y;ENSP00000268763:D596Y|.	ENSP00000268763:D596Y|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22960388|22960388	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.724000|9.724000	0.98775|0.98775	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.537	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		46	234	1	0	1.8453e-21	1	2.07902e-21	46	234					T	25936261	G	T	25936261	3	4	79	1	0	0	0	0	1	0	0	0	8612	942	33	3	1840	3	KSR1	17	25936261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3481	25936261	55258949	17077	27394											
KSR1	8844	broad.mit.edu	37	chr17	25937132	25937132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccacgactggctgtgCtatctggcccctgagattgt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000319524.6	+	18	2331	c.2331C>T	c.(2329-2331)tgC>tgT	p.C777C	KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000582410.1_5'UTR|KSR1_ENST00000398988.3_Silent_p.C640C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1918-1920)tgC>tgT		kinase suppressor of ras 1							93	97	96					17																	25937132		2029	4194	6223	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25937132C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2331C>T	17.37:g.25937132C>T			OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000319524.6_Silent_p.C777C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR	p.C640C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2365	+	Lung NSC(42;0.00836)		775			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1920C>T																																																																																					0.577	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		93	501	0	0	0	1	0	93	501					T	25937132	C	T	25937132	2	4	79	1	0	0	0	0	0	0	0	1	8612	805	28	2		2	KSR1	17	25937132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	871	25937132	55258078	17078	27395											
LGALS9	3965	broad.mit.edu	37	chr17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacccaggcccagggggCgcagacaaaaagtgagttca	12	13	1	2	rs199701061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000310394.5_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	177					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17840	0.0		0.0	False		,,,				2504	0.0				Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(529-531)Cgc>Tgc		lectin, galactoside-binding, soluble, 9		C	,CYS/ARG	0,4406		0,0,2203	25	24	24		,529	-1.2	0.8	17		24	2,8590	1.2+/-3.3	0,2,4294	no	intron,missense	LGALS9	NM_002308.3,NM_009587.2	,180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging	,177/356	25970635	2,12996	2203	4296	6499	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25970635C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.529C>T	17.37:g.25970635C>T	ENSP00000378856:p.Arg177Cys					LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	p.R177C	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	5	1997	+	Lung NSC(42;0.0103)		177					A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.529C>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242970	0.39697	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.15139	3.91;2.45	3.53	-1.16	0.09678	.	1.136550	0.06577	N	0.749601	T	0.15478	0.0373	L	0.27053	0.805	0.26432	N	0.975927	D;D	0.76494	0.999;0.998	P;P	0.51229	0.663;0.644	T	0.19712	-1.0297	10	0.62326	D	0.03	.	2.7707	0.05333	0.204:0.4368:0.0:0.3592	.	120;177	B4DWP7;O00182	.;LEG9_HUMAN	C	177;120	ENSP00000378856:R177C;ENSP00000393695:R120C	ENSP00000378856:R177C	R	+	1	0	LGALS9	22994762	0.002000	0.14202	0.773000	0.31616	0.631000	0.37964	-0.535000	0.06142	0.029000	0.15352	-0.201000	0.12746	CGC		0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		26	175	0	0	0	1	0	26	175					T	25970635	C	T	25970635	3	4	79	1	0	0	0	0	1	0	0	0	8780	768	27	1	547	1	LGALS9	17	25970635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33503	25970635	55224575	17079	27396											
NOS2	4843	broad.mit.edu	37	chr17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggccagcttttggaGcagcagctgggttgggggtg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	843	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)			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)	AGCTTTTGGAGCAGCAGCTGG	0.627																																						ENST00000313735.6																			0				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						c.(2527-2529)Ctc>Ttc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						30	33	32					17																	26091072		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.chr17:26091072G>A	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.2527C>T	17.37:g.26091072G>A	ENSP00000327251:p.Leu843Phe						p.L843F	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			21	2760	-			843			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2527C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199369	0.58126	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.40225	1.04	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.59224	0.2178	L	0.58583	1.82	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	T	0.62243	-0.6895	10	0.87932	D	0	.	12.4192	0.55510	0.0823:0.0:0.9177:0.0	.	843	P35228	NOS2_HUMAN	F	843;804	ENSP00000327251:L843F	ENSP00000327251:L843F	L	-	1	0	NOS2	23115199	1.000000	0.71417	0.994000	0.49952	0.393000	0.30537	8.026000	0.88783	1.198000	0.43158	0.462000	0.41574	CTC		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		32	127	0	0	0	1	0	32	127					A	26091072	G	A	26091072	3	1	79	1	0	0	0	0	1	0	0	0	10585	971	34	2	962	2	NOS2	17	26091072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120437	26091072	55104138	17080	27397											
NOS2	4843	broad.mit.edu	37	chr17	26101354	26101354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgggggtgatgctcccagAcatgggagggaccagccaaa	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26101354A>G	ENST00000313735.6	-	12	1638	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	469					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)			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)	ATGCTCCCAGACATGGGAGGG	0.562																																						ENST00000313735.6																			0				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						c.(1405-1407)Tct>Cct		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						94	86	88					17																	26101354		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.chr17:26101354A>G	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.1405T>C	17.37:g.26101354A>G	ENSP00000327251:p.Ser469Pro						p.S469P	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			12	1638	-			469					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1405T>C	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392035	0.83011	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.33216	1.42	5.67	4.57	0.56435	Nitric oxide synthase, oxygenase domain (2);	0.071079	0.64402	D	0.000020	T	0.68430	0.3000	H	0.97240	3.965	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78099	-0.2336	10	0.87932	D	0	.	12.1225	0.53900	0.8566:0.1434:0.0:0.0	.	469;469	F8WEM3;P35228	.;NOS2_HUMAN	P	469;430;469	ENSP00000327251:S469P	ENSP00000305638:S469P	S	-	1	0	NOS2	23125481	1.000000	0.71417	0.327000	0.25402	0.984000	0.73092	7.348000	0.79366	0.938000	0.37419	0.459000	0.35465	TCT		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		6	200	0	0	0	1	0	6	200					G	26101354	A	G	26101354	3	3	79	1	0	0	0	0	1	0	0	0	10585	275	10	4	2120	4	NOS2	17	26101354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10282	26101354	55093856	17081	27398											
NOS2	4843	broad.mit.edu	37	chr17	26110096	26110096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctatctcctttgttacCgcttccaccctggccagatg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					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)			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)	CCTTTGTTACCGCTTCCACCC	0.517																																						ENST00000313735.6																			0				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						c.(502-504)gcG>gcA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						254	179	205					17																	26110096		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:26110096C>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.504G>A	17.37:g.26110096C>T							p.A168A	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			6	737	-			168					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.504G>A	CCDS11223.1																																																																																				0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		57	342	0	0	0	1	0	57	342					T	26110096	C	T	26110096	2	4	79	1	0	0	0	0	0	0	0	1	10585	639	23	1		1	NOS2	17	26110096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8742	26110096	55085114	17082	27399											
NOS2	4843	broad.mit.edu	37	chr17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtggggaggacaatgGggttgcatccagcttgacca	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	78					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)			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)	GAGGACAATGGGGTTGCATCC	0.537																																						ENST00000313735.6																			0				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						c.(232-234)Cca>Tca		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						155	156	156					17																	26115921		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.chr17:26115921G>A	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.232C>T	17.37:g.26115921G>A	ENSP00000327251:p.Pro78Ser						p.P78S	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			4	465	-			78					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.232C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672902	0.29693	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01629	4.72	5.86	2.53	0.30540	.	0.329526	0.28114	N	0.016542	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.17979	0.02;0.003	T	0.43605	-0.9381	10	0.36615	T	0.2	.	4.3575	0.11185	0.0824:0.1292:0.5762:0.2122	.	78;78	F8WEM3;P35228	.;NOS2_HUMAN	S	78	ENSP00000327251:P78S	ENSP00000305638:P78S	P	-	1	0	NOS2	23140048	0.965000	0.33210	0.007000	0.13788	0.017000	0.09413	1.137000	0.31479	1.489000	0.48450	0.650000	0.86243	CCA		0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		140	662	0	0	0	1	0	140	662					A	26115921	G	A	26115921	3	1	79	1	0	0	0	0	1	0	0	0	10585	1232	43	2	3325	2	NOS2	17	26115921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5825	26115921	55079289	17083	27400											
NLK	51701	broad.mit.edu	37	chr17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattacagcaatgctattgAcatctggtctgtgggatgta	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AATGCTATTGACATCTGGTCT	0.428																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(967-969)gAc>gGc		nemo-like kinase							160	154	156					17																	26495604		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26495604A>G	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.968A>G	17.37:g.26495604A>G	ENSP00000384625:p.Asp323Gly						p.D323G	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	6	1686	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		323			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.968A>G	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848021	0.91277	.	.	ENSG00000087095	ENST00000407008	T	0.78816	-1.21	6.08	6.08	0.98989	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	0.91962	0.7454	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-8.5349	15.825	0.78698	1.0:0.0:0.0:0.0	.	323	Q9UBE8	NLK_HUMAN	G	323	ENSP00000384625:D323G	ENSP00000384625:D323G	D	+	2	0	NLK	23519731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAC		0.428	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		118	505	0	0	0	1	0	118	505					G	26495604	A	G	26495604	3	3	79	1	0	0	0	0	1	0	0	0	10508	275	10	4	990	4	NLK	17	26495604	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379683	26495604	54699606	17084	27401											
TMEM97	27346	broad.mit.edu	37	chr17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacggttaacccttgtgtCtgtctatgccccctacttac	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	145					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(433-435)tCt>tTt		transmembrane protein 97							124	92	103					17																	26653722		2203	4300	6503	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653722C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.434C>T	17.37:g.26653722C>T	ENSP00000226230:p.Ser145Phe					TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	p.S145F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	579	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		145					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.434C>T	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267767	0.10294	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	2.77	0.32553	.	0.293339	0.44483	N	0.000449	T	0.59797	0.2220	M	0.74647	2.275	0.26200	N	0.979468	D	0.61080	0.989	P	0.58077	0.832	T	0.54036	-0.8353	9	0.46703	T	0.11	-1.5154	10.3922	0.44179	0.0:0.6064:0.3204:0.0732	.	145	Q5BJF2	TMM97_HUMAN	F	145;38	.	ENSP00000226230:S145F	S	+	2	0	TMEM97	23677849	0.121000	0.22262	0.000000	0.03702	0.021000	0.10359	2.413000	0.44618	0.359000	0.24239	-0.175000	0.13238	TCT		0.408	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		49	185	0	0	0	1	0	49	185					T	26653722	C	T	26653722	3	4	79	1	0	0	0	0	1	0	0	0	16276	913	32	2	444	2	TMEM97	17	26653722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158118	26653722	54541488	17085	27402											
VTN	7448	broad.mit.edu	37	chr17	26695591	26695591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcctcccagctgtcCcgctgcatcatggcaaagtg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000226218.4	-	6	1548	c.930G>T	c.(928-930)cgG>cgT	p.R310R	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	310					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CCCAGCTGTCCCGCTGCATCA	0.557																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(928-930)cgG>cgT		vitronectin	Urokinase(DB00013)						92	85	87					17																	26695591		2203	4300	6503	SO:0001819	synonymous_variant	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26695591C>A	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.930G>T	17.37:g.26695591C>A						SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.R310R	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	1548	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		310					B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	c.930G>T	CCDS11229.1																																																																																				0.557	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		90	343	1	0	5.42582e-32	1	6.39997e-32	90	343					A	26695591	C	A	26695591	2	1	79	1	0	0	0	0	0	0	0	1	17291	610	22	3		3	VTN	17	26695591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41869	26695591	54499619	17086	27403											
VTN	7448	broad.mit.edu	37	chr17	26695907	26695907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtacccttgaagaagtagAcccgctcccggccactgtag	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695907A>G	ENST00000226218.4	-	5	1430	c.812T>C	c.(811-813)gTc>gCc	p.V271A	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	271					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAAGAAGTAGACCCGCTCCCG	0.582																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(811-813)gTc>gCc		vitronectin	Urokinase(DB00013)						71	63	66					17																	26695907		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26695907A>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.812T>C	17.37:g.26695907A>G	ENSP00000226218:p.Val271Ala					SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.V271A	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	1430	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		271			Hemopexin-like 3.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.812T>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727973	0.48833	.	.	ENSG00000255604	ENST00000226218	T	0.02916	4.11	5.92	0.74	0.18330	Hemopexin/matrixin (2);	0.161668	0.53938	N	0.000042	T	0.02494	0.0076	L	0.28115	0.83	0.48511	D	0.999661	B	0.30793	0.295	B	0.30495	0.116	T	0.56068	-0.8040	10	0.45353	T	0.12	-21.9931	10.6541	0.45665	0.6559:0.0:0.3441:0.0	.	271	P04004	VTNC_HUMAN	A	271	ENSP00000226218:V271A	ENSP00000226218:V271A	V	-	2	0	AC002094.1	23720034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.268000	0.33062	0.146000	0.19002	0.533000	0.62120	GTC		0.582	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		19	471	0	0	0	1	0	19	471					G	26695907	A	G	26695907	3	3	79	1	0	0	0	0	1	0	0	0	17291	275	10	4	640	4	VTN	17	26695907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	316	26695907	54499303	17087	27404											
VTN	7448	broad.mit.edu	37	chr17	26696370	26696370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggcatcgatggggccCtcgatgccccagacatctcg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	ENST00000226218.4	-	4	1227	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	203					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CGATGGGGCCCTCGATGCCCC	0.587																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(607-609)gaG>gaA		vitronectin	Urokinase(DB00013)						91	86	87					17																	26696370		2203	4300	6503	SO:0001819	synonymous_variant	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696370C>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.609G>A	17.37:g.26696370C>T						SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.E203E	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	1227	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		203			Hemopexin-like 1.		B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	c.609G>A	CCDS11229.1																																																																																				0.587	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		15	465	0	0	0	1	0	15	465					T	26696370	C	T	26696370	2	4	79	1	0	0	0	0	0	0	0	1	17291	680	24	2		2	VTN	17	26696370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	26696370	54498840	17088	27405											
PIGS	94005	broad.mit.edu	37	chr17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagcgctccacttgtcCtctggaaggtggtcagccag	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000395346.2_Missense_Mutation_p.E202D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.E149D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(628-630)gaG>gaT		phosphatidylinositol glycan anchor biosynthesis, class S							74	60	65					17																	26888486		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26888486C>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.630G>T	17.37:g.26888486C>A	ENSP00000309430:p.Glu210Asp					PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D	p.E210D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			6	1005	-	Lung NSC(42;0.00431)		210					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.630G>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062502	0.36373	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.45276	0.9;0.9;0.9	5.68	2.66	0.31614	.	0.475758	0.25750	N	0.028551	T	0.22282	0.0537	N	0.20685	0.6	0.27407	N	0.954689	B;B	0.15930	0.015;0.012	B;B	0.13407	0.009;0.005	T	0.14364	-1.0475	10	0.22109	T	0.4	-26.0276	4.72	0.12913	0.2364:0.5327:0.0:0.2309	.	210;202	Q96S52;Q96S52-2	PIGS_HUMAN;.	D	202;210;149	ENSP00000378755:E202D;ENSP00000309430:E210D;ENSP00000438447:E149D	ENSP00000309430:E210D	E	-	3	2	PIGS	23912613	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	0.682000	0.25335	0.356000	0.24157	-0.136000	0.14681	GAG		0.572	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		9	177	1	0	1.12685e-05	1	1.15515e-05	9	177					A	26888486	C	A	26888486	3	1	79	1	0	0	0	0	1	0	0	0	11940	680	24	3	1065	3	PIGS	17	26888486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192116	26888486	54306724	17089	27406											
PIGS	94005	broad.mit.edu	37	chr17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataccttgcacactgcccGatgacagggcctcctcctca	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000395346.2_Missense_Mutation_p.S113L|PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.S60L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	121					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(361-363)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class S							200	186	190					17																	26890850		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890850G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.362C>T	17.37:g.26890850G>A	ENSP00000309430:p.Ser121Leu					PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L	p.S121L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			4	737	-	Lung NSC(42;0.00431)		121					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.362C>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269863	0.05716	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	5.21	2.69	0.31865	.	0.519639	0.20737	N	0.086620	T	0.10895	0.0266	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20240	-1.0281	10	0.24483	T	0.36	-6.2214	3.9546	0.09383	0.6491:0.0:0.1999:0.151	.	121;113	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	113;121;60	ENSP00000378755:S113L;ENSP00000309430:S121L;ENSP00000438447:S60L	ENSP00000309430:S121L	S	-	2	0	PIGS	23914977	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.591000	0.23969	0.732000	0.32470	-0.345000	0.07892	TCG		0.483	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		157	681	0	0	0	1	0	157	681					A	26890850	G	A	26890850	3	1	79	1	0	0	0	0	1	0	0	0	11940	1059	37	1	1341	1	PIGS	17	26890850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2364	26890850	54304360	17090	27407											
SPAG5	10615	broad.mit.edu	37	chr17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactgtcctgggtttctgGgtgagggacagccagctggc	16	10	1	1	rs539914180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	464					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGTTTCTGGGTGAGGGACA	0.537																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1390-1392)Cca>Tca		sperm associated antigen 5							96	89	91					17																	26918763		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26918763G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1390C>T	17.37:g.26918763G>A	ENSP00000323300:p.Pro464Ser						p.P464S	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			4	1722	-	Lung NSC(42;0.00431)		464					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.1390C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107023	0.20714	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	2.57	0.30868	.	0.749706	0.12505	N	0.462985	T	0.15349	0.0370	N	0.11560	0.145	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.33214	-0.9877	9	0.07990	T	0.79	4.8732	4.7754	0.13176	0.1848:0.0:0.6461:0.1691	.	464	Q96R06	SPAG5_HUMAN	S	464	.	ENSP00000323300:P464S	P	-	1	0	SPAG5	23942890	0.001000	0.12720	0.007000	0.13788	0.992000	0.81027	0.478000	0.22212	0.306000	0.22856	0.655000	0.94253	CCA		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		95	431	0	0	0	1	0	95	431					A	26918763	G	A	26918763	3	1	79	1	0	0	0	0	1	0	0	0	15033	1232	43	2	2275	2	SPAG5	17	26918763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27913	26918763	54276447	17091	27408											
SPAG5	10615	broad.mit.edu	37	chr17	26919983	26919983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatctgattcatgctgAcaagtttctagccactttga	7	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26919983A>G	ENST00000321765.5	-	3	611	c.279T>C	c.(277-279)tgT>tgC	p.C93C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	93					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATTCATGCTGACAAGTTTCTA	0.423																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(277-279)tgT>tgC		sperm associated antigen 5							127	129	128					17																	26919983		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919983A>G	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.279T>C	17.37:g.26919983A>G							p.C93C	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			3	611	-	Lung NSC(42;0.00431)		93					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.279T>C	CCDS32594.1																																																																																				0.423	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		12	833	0	0	0	1	0	12	833					G	26919983	A	G	26919983	2	3	79	1	0	0	0	0	0	0	0	1	15033	273	10	4		4	SPAG5	17	26919983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1220	26919983	54275227	17092	27409											
KIAA0100	9703	broad.mit.edu	37	chr17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatcgccaaatcatttgCgcctgccaaagatggacttc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6700-6702)cGc>cAc		KIAA0100							244	240	242					17																	26942089		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942089C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6701G>A	17.37:g.26942089C>T	ENSP00000436773:p.Arg2234His					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	p.R2234H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			39	6775	-	Lung NSC(42;0.00431)		2234					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6701G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		281	1379	0	0	0	1	0	281	1379					T	26942089	C	T	26942089	3	4	79	1	0	0	0	0	1	0	0	0	8184	768	27	1	10	1	KIAA0100	17	26942089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22106	26942089	54253121	17093	27410											
KIAA0100	9703	broad.mit.edu	37	chr17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgttcatggcagctcGctctttcatcttgtcaatgt	10	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2108						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCAGCTCGCTCTTTCATC	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6322-6324)Cga>Tga		KIAA0100							84	68	73					17																	26943182		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26943182G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6322C>T	17.37:g.26943182G>A	ENSP00000436773:p.Arg2108*					KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*	p.R2108*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			37	6396	-	Lung NSC(42;0.00431)		2108					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.6322C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	47	13.572001	0.99750	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4692	0.61273	0.0:0.0:0.715:0.285	.	.	.	.	X	2108;2078;2108;1965	.	ENSP00000005905:R2108X	R	-	1	2	KIAA0100	23967309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.333000	0.45449	0.655000	0.94253	CGA		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		47	209	0	0	0	1	0	47	209					A	26943182	G	A	26943182	4	1	79	1	0	0	0	0	0	1	0	0	8184	1095	38	1	397	1	KIAA0100	17	26943182	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	26943182	54252028	17094	27411											
KIAA0100	9703	broad.mit.edu	37	chr17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgtgccacacccttcCcagggcccagtggtactgca	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2074						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACACCCTTCCCAGGGCCCAG	0.512																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6220-6222)gGg>gAg		KIAA0100							83	82	82					17																	26943464		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26943464C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6221G>A	17.37:g.26943464C>T	ENSP00000436773:p.Gly2074Glu					KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E	p.G2074E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			36	6295	-	Lung NSC(42;0.00431)		2074					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6221G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421244	0.83559	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.41065	1.01;1.01	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.041590	0.85682	D	0.000000	T	0.54224	0.1845	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.34453	-0.9828	10	0.05833	T	0.94	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2074	Q14667	K0100_HUMAN	E	2074;2044;2074;1931	ENSP00000436773:G2074E;ENSP00000446443:G1931E	ENSP00000005905:G2074E	G	-	2	0	KIAA0100	23967591	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.353000	0.66034	2.906000	0.99361	0.655000	0.94253	GGG		0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		110	450	0	0	0	1	0	110	450					T	26943464	C	T	26943464	3	4	79	1	0	0	0	0	1	0	0	0	8184	623	22	2	502	2	KIAA0100	17	26943464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	26943464	54251746	17095	27412											
KIAA0100	9703	broad.mit.edu	37	chr17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcccatgctcaccttccGcttaggttctacatggagca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1787						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCACCTTCCGCTTAGGTTCT	0.493																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(5359-5361)Cgg>Tgg		KIAA0100							147	121	130					17																	26947532		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26947532G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5359C>T	17.37:g.26947532G>A	ENSP00000436773:p.Arg1787Trp					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	p.R1787W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			29	5433	-	Lung NSC(42;0.00431)		1787					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5359C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328096	0.60743	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.24	4.25	0.50352	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.72032	D	0.01	.	14.6988	0.69142	0.0:0.0:0.8534:0.1466	.	1787	Q14667	K0100_HUMAN	W	1787;1757;1787;1644	ENSP00000436773:R1787W;ENSP00000446443:R1644W	ENSP00000005905:R1787W	R	-	1	2	KIAA0100	23971659	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.403000	0.59729	1.188000	0.43014	0.462000	0.41574	CGG		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		14	257	0	0	0	1	0	14	257					A	26947532	G	A	26947532	3	1	79	1	0	0	0	0	1	0	0	0	8184	1086	38	1	1392	1	KIAA0100	17	26947532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4068	26947532	54247678	17096	27413											
KIAA0100	9703	broad.mit.edu	37	chr17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccacttaccaaccaaggcaGaaagggtaaacaagttcatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	587						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACCAAGGCAGAAAGGGTAAA	0.488																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1759-1761)tCt>tAt		KIAA0100							108	92	98					17																	26964865		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964865G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1760C>A	17.37:g.26964865G>T	ENSP00000436773:p.Ser587Tyr					KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	p.S587Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1834	-	Lung NSC(42;0.00431)		587					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1760C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063874	0.76187	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.7;1.69	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.31138	-0.9954	10	0.72032	D	0.01	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	587	Q14667	K0100_HUMAN	Y	587;587;587;444	ENSP00000436773:S587Y;ENSP00000446443:S444Y	ENSP00000005905:S587Y	S	-	2	0	KIAA0100	23988992	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.423000	0.73361	2.724000	0.93272	0.563000	0.77884	TCT		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		69	286	1	0	5.05157e-50	1	6.25473e-50	69	286					T	26964865	G	T	26964865	3	4	79	1	0	0	0	0	1	0	0	0	8184	942	33	3	5051	3	KIAA0100	17	26964865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17333	26964865	54230345	17097	27414											
KIAA0100	9703	broad.mit.edu	37	chr17	26965068	26965068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcaagaaaaagggtAtctgactgggtgctggacag	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26965068A>G	ENST00000528896.2	-	14	1631	c.1557T>C	c.(1555-1557)gaT>gaC	p.D519D	KIAA0100_ENST00000389003.3_Silent_p.D376D|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.D376D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	519						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAAAAAGGGTATCTGACTGGG	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1555-1557)gaT>gaC		KIAA0100							60	60	60					17																	26965068		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26965068A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1557T>C	17.37:g.26965068A>G						KIAA0100_ENST00000389003.3_Silent_p.D376D|KIAA0100_ENST00000544884.1_Silent_p.D376D	p.D519D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1631	-	Lung NSC(42;0.00431)		519					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.1557T>C	CCDS32595.1																																																																																				0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	203	0	0	0	1	0	7	203					G	26965068	A	G	26965068	2	3	79	1	0	0	0	0	0	0	0	1	8184	446	16	4		4	KIAA0100	17	26965068	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203	26965068	54230142	17098	27415											
KIAA0100	9703	broad.mit.edu	37	chr17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcttctactgatctgAatatgccataaggactcaga	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	157						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TACTGATCTGAATATGCCATA	0.438																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(469-471)atT>atG		KIAA0100							119	111	113					17																	26969931		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26969931A>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.471T>G	17.37:g.26969931A>C	ENSP00000436773:p.Ile157Met					KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	p.I157M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			5	545	-	Lung NSC(42;0.00431)		157					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.471T>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021157	0.19433	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.83;1.82	5.39	-1.97	0.07503	FMP27, N-terminal (1);	0.044276	0.85682	D	0.000000	T	0.12603	0.0306	N	0.11201	0.11	0.27554	N	0.950413	P;P;B	0.45715	0.865;0.607;0.025	P;B;B	0.46585	0.521;0.28;0.023	T	0.20974	-1.0259	10	0.36615	T	0.2	.	4.6376	0.12531	0.2117:0.1394:0.5128:0.1361	.	14;157;157	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	157;157;157;14	ENSP00000436773:I157M;ENSP00000446443:I14M	ENSP00000005905:I157M	I	-	3	3	KIAA0100	23994058	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.681000	0.37618	-0.440000	0.07211	-1.400000	0.01143	ATT		0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		49	244	0	0	0	1	0	49	244					C	26969931	A	C	26969931	3	2	79	1	0	0	0	0	1	0	0	0	8184	242	9	4	6376	4	KIAA0100	17	26969931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4863	26969931	54225279	17099	27416											
SUPT6H	6830	broad.mit.edu	37	chr17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaccatggccatcgaaCgggctttacagcagttcctc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	715	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R715W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCATCGAACGGGCTTTACA	0.498																																						ENST00000314616.6																			1	Substitution - Missense(1)	p.R715W(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2143-2145)Cgg>Tgg		suppressor of Ty 6 homolog (S. cerevisiae)							74	73	74					17																	27010748		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010748C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2143C>T	17.37:g.27010748C>T	ENSP00000319104:p.Arg715Trp					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			17	2426	+	Lung NSC(42;0.00431)		715					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2143C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998760	0.74818	.	.	ENSG00000109111	ENST00000314616	T	0.40756	1.02	5.39	5.39	0.77823	Tex-like domain (1);	0.060685	0.64402	D	0.000003	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	T	0.53585	-0.8418	10	0.36615	T	0.2	-1.2919	19.2162	0.93780	0.0:1.0:0.0:0.0	.	715	Q7KZ85	SPT6H_HUMAN	W	715	ENSP00000319104:R715W	ENSP00000319104:R715W	R	+	1	2	SUPT6H	24034875	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.930000	0.48924	2.557000	0.86248	0.650000	0.86243	CGG		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		53	237	0	0	0	1	0	53	237					T	27010748	C	T	27010748	3	4	79	1	0	0	0	0	1	0	0	0	15452	527	19	1	2205	1	SUPT6H	17	27010748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40817	27010748	54184462	17100	27417											
SUPT6H	6830	broad.mit.edu	37	chr17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctggctgaagccaagGaatatgtcataaaggtgagg	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	739	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGAAGCCAAGGAATATGTCAT	0.493																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2215-2217)Gaa>Aaa		suppressor of Ty 6 homolog (S. cerevisiae)							52	53	53					17																	27010820		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010820G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2215G>A	17.37:g.27010820G>A	ENSP00000319104:p.Glu739Lys					SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			17	2498	+	Lung NSC(42;0.00431)		739					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2215G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960195	0.74016	.	.	ENSG00000109111	ENST00000314616	T	0.45276	0.9	5.39	5.39	0.77823	Tex-like domain (1);	0.159904	0.56097	D	0.000037	T	0.38134	0.1029	L	0.42245	1.32	0.58432	D	0.999999	B	0.31893	0.345	B	0.29353	0.101	T	0.12116	-1.0560	10	0.27082	T	0.32	-8.0924	19.2162	0.93780	0.0:0.0:1.0:0.0	.	739	Q7KZ85	SPT6H_HUMAN	K	739	ENSP00000319104:E739K	ENSP00000319104:E739K	E	+	1	0	SUPT6H	24034947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		44	144	0	0	0	1	0	44	144					A	27010820	G	A	27010820	3	1	79	1	0	0	0	0	1	0	0	0	15452	1175	41	2	2277	2	SUPT6H	17	27010820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72	27010820	54184390	17101	27418											
SUPT6H	6830	broad.mit.edu	37	chr17	27022515	27022515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgactttgatgctgaagCtgcagaccacaagcaggagg	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27022515C>T	ENST00000314616.6	+	29	4203	c.3920C>T	c.(3919-3921)gCt>gTt	p.A1307V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1307					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGCTGAAGCTGCAGACCAC	0.552																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3919-3921)gCt>gTt		suppressor of Ty 6 homolog (S. cerevisiae)							105	87	93					17																	27022515		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27022515C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3920C>T	17.37:g.27022515C>T	ENSP00000319104:p.Ala1307Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			29	4203	+	Lung NSC(42;0.00431)		1307					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3920C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257120	0.80246	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.79	5.79	0.91817	.	0.149662	0.64402	D	0.000010	T	0.42404	0.1201	N	0.08118	0	0.54753	D	0.99998	B	0.12630	0.006	B	0.15484	0.013	T	0.21861	-1.0233	9	0.39692	T	0.17	-13.6067	20.0345	0.97552	0.0:1.0:0.0:0.0	.	1307	Q7KZ85	SPT6H_HUMAN	V	1307	.	ENSP00000319104:A1307V	A	+	2	0	SUPT6H	24046642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.733000	0.93635	0.650000	0.86243	GCT		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		5	198	0	0	0	1	0	5	198					T	27022515	C	T	27022515	3	4	79	1	0	0	0	0	1	0	0	0	15452	797	28	2	4030	2	SUPT6H	17	27022515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11695	27022515	54172695	17102	27419											
SUPT6H	6830	broad.mit.edu	37	chr17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacacgggctgtgaatgCcctgcctcagaacatgactt	10	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1554					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTGTGAATGCCCTGCCTCAG	0.572																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4660-4662)gCc>gTc		suppressor of Ty 6 homolog (S. cerevisiae)							142	126	131					17																	27027385		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027385C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4661C>T	17.37:g.27027385C>T	ENSP00000319104:p.Ala1554Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			35	4944	+	Lung NSC(42;0.00431)		1554					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4661C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760925	0.69763	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	0.058184	0.64402	D	0.000002	T	0.37461	0.1004	N	0.22421	0.69	0.80722	D	1	P	0.40970	0.734	B	0.31751	0.135	T	0.26326	-1.0106	9	0.31617	T	0.26	-13.4042	18.4501	0.90700	0.0:1.0:0.0:0.0	.	1554	Q7KZ85	SPT6H_HUMAN	V	1554	.	ENSP00000319104:A1554V	A	+	2	0	SUPT6H	24051512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.209000	0.77916	2.364000	0.80123	0.650000	0.86243	GCC		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		140	614	0	0	0	1	0	140	614					T	27027385	C	T	27027385	3	4	79	1	0	0	0	0	1	0	0	0	15452	739	26	2	4795	2	SUPT6H	17	27027385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	27027385	54167825	17103	27420											
NEK8	284086	broad.mit.edu	37	chr17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctaggattgtgcacctgTgcctgcgaaaggctgaccag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	21	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTGCACCTGTGCCTGCGAAA	0.562																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(61-63)Tgc>Cgc		NIMA-related kinase 8							82	74	77					17																	27061014		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061014T>C	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.61T>C	17.37:g.27061014T>C	ENSP00000268766:p.Cys21Arg					NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.C21R	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			2	95	+	Lung NSC(42;0.0158)		21			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.61T>C	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908107	0.72868	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.25579	1.79;1.79	4.92	4.92	0.64577	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	0.51584	0.1683	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58295	-0.7661	10	0.72032	D	0.01	.	13.7609	0.62966	0.0:0.0:0.0:1.0	.	21	Q86SG6	NEK8_HUMAN	R	21	ENSP00000465859:C21R;ENSP00000268766:C21R	ENSP00000268766:C21R	C	+	1	0	NEK8	24085141	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.766000	0.85320	1.840000	0.53500	0.260000	0.18958	TGC		0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			31	152	0	0	0	1	0	31	152					C	27061014	T	C	27061014	3	2	79	1	0	0	0	0	1	0	0	0	10372	1696	59	4	67	4	NEK8	17	27061014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33629	27061014	54134196	17104	27421											
NEK8	284086	broad.mit.edu	37	chr17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggacaggaagctcagCgagttgtatgtggtatcgat	13	9	1	0	rs565763400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	499					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGAAGCTCAGCGAGTTGTATG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0				NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1495-1497)Cga>Tga		NIMA-related kinase 8							119	109	112					17																	27067558		2203	4300	6503	SO:0001587	stop_gained	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27067558C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1495C>T	17.37:g.27067558C>T	ENSP00000268766:p.Arg499*					AC010761.6_ENST00000584779.1_RNA	p.R499*	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			11	1529	+	Lung NSC(42;0.0158)		499					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	ENST00000268766.6	37	c.1495C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219461	0.95139	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.56	-1.1	0.09872	.	0.051240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.429	0.44395	0.6412:0.2843:0.0:0.0745	.	.	.	.	X	499	.	ENSP00000268766:R499X	R	+	1	2	NEK8	24091685	0.961000	0.32948	0.929000	0.37066	0.977000	0.68977	0.124000	0.15728	-0.021000	0.14009	0.555000	0.69702	CGA		0.572	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			42	543	0	0	0	1	0	42	543					T	27067558	C	T	27067558	4	4	79	1	0	0	0	0	0	1	0	0	10372	760	27	1	1537	1	NEK8	17	27067558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6544	27067558	54127652	17105	27422											
TRAF4	9618	broad.mit.edu	37	chr17	27071139	27071139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgcccgccatgcctggCttcgactacaagttcctgga	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	3					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(7-9)ggC>ggT		TNF receptor-associated factor 4							13	16	15					17																	27071139		2200	4294	6494	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27071139C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.9C>T	17.37:g.27071139C>T						TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G	p.G3G	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		1	138	+	Lung NSC(42;0.01)		3					O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.9C>T	CCDS11243.1																																																																																				0.746	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		19	98	0	0	0	1	0	19	98					T	27071139	C	T	27071139	2	4	79	1	0	0	0	0	0	0	0	1	16496	784	28	2		2	TRAF4	17	27071139	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3581	27071139	54124071	17106	27423											
TRAF4	9618	broad.mit.edu	37	chr17	27075073	27075073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaatgtcattccctgCcctaatcgctgccccatgaa	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	113					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)tgC>tgT		TNF receptor-associated factor 4							89	90	90					17																	27075073		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075073C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.339C>T	17.37:g.27075073C>T						TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C	p.C113C	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		4	468	+	Lung NSC(42;0.01)		113					O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.339C>T	CCDS11243.1																																																																																				0.587	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		75	299	0	0	0	1	0	75	299					T	27075073	C	T	27075073	2	4	79	1	0	0	0	0	0	0	0	1	16496	747	26	2		2	TRAF4	17	27075073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3934	27075073	54120137	17107	27424											
TRAF4	9618	broad.mit.edu	37	chr17	27076400	27076400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaccacagcacgtcactgaGaccttccaccccgacccaaa	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	406	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1216-1218)gaG>gaA		TNF receptor-associated factor 4							63	58	59					17																	27076400		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076400G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1218G>A	17.37:g.27076400G>A						TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron	p.E406E	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1347	+	Lung NSC(42;0.01)		406			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.1218G>A	CCDS11243.1																																																																																				0.577	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		64	258	0	0	0	1	0	64	258					A	27076400	G	A	27076400	2	1	79	1	0	0	0	0	0	0	0	1	16496	933	33	2		2	TRAF4	17	27076400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	27076400	54118810	17108	27425											
ERAL1	26284	broad.mit.edu	37	chr17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgtccctcaggcatcAcctggagctctctttgttgg	10	12	4	0	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	181	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478													A|||	5	0.000998403	0.0038	0.0	5008	,	,		22088	0.0		0.0	False		,,,				2504	0.0					ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(541-543)cAc>cGc		Era-like 12S mitochondrial rRNA chaperone 1		A	ARG/HIS	22,4384	29.0+/-57.7	0,22,2181	109	106	107		542	5.8	1	17	dbSNP_134	107	0,8600		0,0,4300	yes	missense	ERAL1	NM_005702.2	29	0,22,6481	GG,GA,AA		0.0,0.4993,0.1692	benign	181/438	27185169	22,12984	2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27185169A>G	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.542A>G	17.37:g.27185169A>G	ENSP00000254928:p.His181Arg					ERAL1_ENST00000578001.1_3'UTR	p.H181R	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		5	639	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		181			G.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.542A>G	CCDS11244.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.25	1.880780	0.33255	0.004993	0.0	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95272	-3.66	5.8	5.8	0.92144	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.533866	0.24014	N	0.042344	D	0.83617	0.5293	N	0.11131	0.1	0.43267	D	0.99521	B	0.32128	0.357	B	0.34590	0.186	D	0.84150	0.0422	10	0.07325	T	0.83	-4.852	14.9742	0.71257	1.0:0.0:0.0:0.0	.	181	O75616	ERAL1_HUMAN	R	181;121	ENSP00000254928:H181R	ENSP00000254928:H181R	H	+	2	0	ERAL1	24209295	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	7.566000	0.82347	2.224000	0.72417	0.533000	0.62120	CAC		0.478	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			52	300	0	0	0	1	0	52	300					G	27185169	A	G	27185169	3	3	79	1	0	0	0	0	1	0	0	0	5220	159	6	4	560	4	ERAL1	17	27185169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108769	27185169	54010041	17109	27426											
FLOT2	2319	broad.mit.edu	37	chr17	27207787	27207787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcagctcggccagcaGtcggttcacttctgatgtga	14	11	2	2	rs369098535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394908.4	-	10	1296	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.L453L|FLOT2_ENST00000585169.1_Silent_p.L398L	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	398					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1357-1359)Ctg>Ttg		flotillin 2							88	93	91					17																	27207787		2164	4268	6432	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27207787G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1192C>T	17.37:g.27207787G>A						FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.L398L|FLOT2_ENST00000585169.1_Silent_p.L398L	p.L453L			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		12	1434	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		398						Silent	SNP	ENST00000394908.4	37	c.1357C>T	CCDS11245.2																																																																																				0.577	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		106	451	0	0	0	1	0	106	451					A	27207787	G	A	27207787	2	1	79	1	0	0	0	0	0	0	0	1	5962	1020	36	2		2	FLOT2	17	27207787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22618	27207787	53987423	17110	27427											
FLOT2	2319	broad.mit.edu	37	chr17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctgccttgcccatcGcctcgatgactgccgcttcc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394908.4	-	9	1099	c.995C>T	c.(994-996)gCg>gTg	p.A332V	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Missense_Mutation_p.A387V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	332					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1159-1161)gCg>gTg		flotillin 2							71	75	74					17																	27208313		2098	4222	6320	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208313G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.995C>T	17.37:g.27208313G>A	ENSP00000378368:p.Ala332Val					FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.A332V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	p.A387V			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		11	1237	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		332						Missense_Mutation	SNP	ENST00000394908.4	37	c.1160C>T	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	G	35	5.590102	0.96590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.047985	0.85682	D	0.000000	T	0.46776	0.1410	M	0.80982	2.52	0.80722	D	1	P	0.48162	0.906	B	0.41412	0.356	T	0.54906	-0.8223	10	0.54805	T	0.06	-27.4188	18.9843	0.92764	0.0:0.0:1.0:0.0	.	332	Q14254	FLOT2_HUMAN	V	387;332	ENSP00000378366:A387V;ENSP00000378368:A332V	ENSP00000378366:A387V	A	-	2	0	FLOT2	24232439	1.000000	0.71417	0.968000	0.41197	0.922000	0.55478	9.753000	0.98904	2.744000	0.94065	0.561000	0.74099	GCG		0.622	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		95	416	0	0	0	1	0	95	416					A	27208313	G	A	27208313	3	1	79	1	0	0	0	0	1	0	0	0	5962	1087	38	1	303	1	FLOT2	17	27208313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526	27208313	53986897	17111	27428											
DHRS13	147015	broad.mit.edu	37	chr17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttagagaagatggggCctctgagtcctcagactggg	16	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000378895.4	-	5	1120	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	FLOT2_ENST00000394908.4_5'Flank|FLOT2_ENST00000577789.1_5'Flank|FLOT2_ENST00000394906.2_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.A282T|DHRS13_ENST00000581974.1_5'Flank|FLOT2_ENST00000585169.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	332						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(844-846)Gcc>Acc		dehydrogenase/reductase (SDR family) member 13							26	28	27					17																	27225599		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27225599C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.994G>A	17.37:g.27225599C>T	ENSP00000368173:p.Ala332Thr					RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000378895.4_Missense_Mutation_p.A332T|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T	p.A282T			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	1236	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		332					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.844G>A	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	8.772	0.926259	0.18056	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	T;T;D	0.82893	-1.45;-0.98;-1.66	4.99	-1.04	0.10068	.	0.990667	0.08205	N	0.981575	T	0.66886	0.2835	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.48592	-0.9022	10	0.22706	T	0.39	.	4.0285	0.09698	0.1651:0.439:0.0:0.3959	.	251;332	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	332;282;251	ENSP00000368173:A332T;ENSP00000378361:A282T;ENSP00000412826:A251T	ENSP00000368173:A332T	A	-	1	0	DHRS13	24249725	0.001000	0.12720	0.252000	0.24328	0.120000	0.20174	-0.826000	0.04429	-0.020000	0.14032	0.561000	0.74099	GCC		0.612	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		16	77	0	0	0	1	0	16	77					T	27225599	C	T	27225599	3	4	79	1	0	0	0	0	1	0	0	0	4505	739	26	2	143	2	DHRS13	17	27225599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17286	27225599	53969611	17112	27429											
DHRS13	147015	broad.mit.edu	37	chr17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaccgatatggttcacccGaagcagcaggttaaacgcct	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000378895.4	-	4	544	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.R90W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	140						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(268-270)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 13							78	78	78					17																	27228272		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228272G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.418C>T	17.37:g.27228272G>A	ENSP00000368173:p.Arg140Trp					DHRS13_ENST00000378895.4_Missense_Mutation_p.R140W|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W	p.R90W			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	660	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		140					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.268C>T	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386410	0.82902	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.118882	0.56097	D	0.000022	D	0.94255	0.8155	M	0.68317	2.08	0.41278	D	0.986899	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.94650	0.7838	10	0.87932	D	0	.	14.359	0.66757	0.0:0.2636:0.7364:0.0	.	59;140	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	140;90;59	ENSP00000368173:R140W;ENSP00000378361:R90W;ENSP00000412826:R59W	ENSP00000368173:R140W	R	-	1	2	DHRS13	24252398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.625000	0.88918	0.561000	0.74099	CGG		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		88	434	0	0	0	1	0	88	434					A	27228272	G	A	27228272	3	1	79	1	0	0	0	0	1	0	0	0	4505	1057	37	1	723	1	DHRS13	17	27228272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	27228272	53966938	17113	27430											
DHRS13	147015	broad.mit.edu	37	chr17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagtccaaggccatgaAgatgacctcattgttcccac	9	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000378895.4	-	3	397	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.F41V|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000426464.2_Intron	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(121-123)Ttc>Gtc		dehydrogenase/reductase (SDR family) member 13							95	86	89					17																	27228610		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228610A>C	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.271T>G	17.37:g.27228610A>C	ENSP00000368173:p.Phe91Val					DHRS13_ENST00000378895.4_Missense_Mutation_p.F91V|DHRS13_ENST00000426464.2_Intron	p.F41V			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		2	513	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		91					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.121T>G	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185176	0.57909	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.86164	-2.08;-2.08	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	N	0.03917	-0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78785	-0.2068	10	0.05351	T	0.99	.	14.9612	0.71158	1.0:0.0:0.0:0.0	.	91	Q6UX07	DHR13_HUMAN	V	91;41	ENSP00000368173:F91V;ENSP00000378361:F41V	ENSP00000368173:F91V	F	-	1	0	DHRS13	24252736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.676000	0.91199	2.134000	0.65973	0.454000	0.30748	TTC		0.587	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		65	276	0	0	0	1	0	65	276					C	27228610	A	C	27228610	3	2	79	1	0	0	0	0	1	0	0	0	4505	72	3	4	874	4	DHRS13	17	27228610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	338	27228610	53966600	17114	27431											
PHF12	57649	broad.mit.edu	37	chr17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagaccccatcctgcaGcaggctggcatcgcctttgg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2935-2937)Ctg>Atg		PHD finger protein 12							50	56	54					17																	27233281		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233281G>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2935C>A	17.37:g.27233281G>T	ENSP00000329933:p.Leu979Met					PHF12_ENST00000577226.1_3'UTR	p.L979M	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		15	3745	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		979						Missense_Mutation	SNP	ENST00000332830.4	37	c.2935C>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517194	0.27123	.	.	ENSG00000109118	ENST00000332830	D	0.94723	-3.5	5.28	2.04	0.26737	.	0.360301	0.26383	N	0.024681	D	0.88429	0.6434	L	0.40543	1.245	0.80722	D	1	P;P	0.41041	0.736;0.736	B;B	0.36186	0.219;0.219	D	0.84023	0.0355	10	0.51188	T	0.08	-6.6244	5.9949	0.19489	0.1811:0.2947:0.5242:0.0	.	961;979	B4DFE2;Q96QT6	.;PHF12_HUMAN	M	979	ENSP00000329933:L979M	ENSP00000329933:L979M	L	-	1	2	PHF12	24257407	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.876000	0.48498	0.631000	0.30412	0.651000	0.88453	CTG		0.597	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		50	210	1	0	1.61004e-24	1	1.84098e-24	50	210					T	27233281	G	T	27233281	3	4	79	1	0	0	0	0	1	0	0	0	11865	962	34	3	83	3	PHF12	17	27233281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	27233281	53961929	17115	27432											
PHF12	57649	broad.mit.edu	37	chr17	27238239	27238239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctatggataacgtgccGgggctgaccttgccatctgg	12	12	1	1	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000332830.4	-	10	2916	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.P702P	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2104-2106)ccC>ccT		PHD finger protein 12		G		0,4406		0,0,2203	154	124	134		2106	4.6	1	17	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PHF12	NM_001033561.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		702/1005	27238239	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27238239G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2106C>T	17.37:g.27238239G>A						PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.P702P	p.P702P			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		10	2452	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		702			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.2106C>T	CCDS32598.1																																																																																				0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		51	202	0	0	0	1	0	51	202					A	27238239	G	A	27238239	2	1	79	1	0	0	0	0	0	0	0	1	11865	1103	39	1		1	PHF12	17	27238239	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4958	27238239	53956971	17116	27433											
SEZ6	124925	broad.mit.edu	37	chr17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctatggtaatgcggttgTaggggcgggggcgggggcgg	22	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.L499L|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	967					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AATGCGGTTGTAggggcgggg	0.577																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2899-2901)tAc>tGc		seizure related 6 homolog (mouse)							19	21	20					17																	27283229		2116	4245	6361	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283229T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2900A>G	17.37:g.27283229T>C	ENSP00000312942:p.Tyr967Cys					SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C|SEZ6_ENST00000335960.6_Silent_p.L499L|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|PIPOX_ENST00000583215.1_Intron	p.Y967C			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3328	-	Lung NSC(42;0.0137)		967					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2900A>G	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177799	0.57692	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.42131	0.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.905	T	0.71702	-0.4513	10	0.87932	D	0	.	14.3395	0.66617	0.0:0.0:0.0:1.0	.	967;967	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	C	967;967;842;84	ENSP00000353440:Y967C	ENSP00000312942:Y842C	Y	-	2	0	SEZ6	24307355	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.466000	0.60148	2.055000	0.61198	0.402000	0.26972	TAC		0.577	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			19	67	0	0	0	1	0	19	67					C	27283229	T	C	27283229	3	2	79	1	0	0	0	0	1	0	0	0	14192	1638	57	4	105	4	SEZ6	17	27283229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44990	27283229	53911981	17117	27434											
MYO18A	399687	broad.mit.edu	37	chr17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttctgggtgaaccctgCaatgtccatgtctttttcct	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1510					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGAACCCTGCAATGTCCATG	0.552																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4528-4530)Gca>Aca		myosin XVIIIA							106	106	106					17																	27421850		1935	4149	6084	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27421850C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4528G>A	17.37:g.27421850C>T	ENSP00000437073:p.Ala1510Thr					MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T	p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		30	4708	-			1510					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4528G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232462	0.39498	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	4.89	0.63831	Myosin tail (1);	0.187777	0.64402	D	0.000018	T	0.27933	0.0688	N	0.25647	0.755	0.33240	D	0.557108	B;B;B;B	0.20052	0.041;0.01;0.01;0.016	B;B;B;B	0.19946	0.016;0.011;0.007;0.027	T	0.33650	-0.9860	10	0.19590	T	0.45	.	9.5676	0.39409	0.1432:0.7866:0.0:0.0702	.	1122;1510;1510;1510	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	T	1510;1510;1510;1510;1510;406;406;1122	ENSP00000346291:A1510T;ENSP00000435932:A1510T;ENSP00000434228:A1510T;ENSP00000437073:A1510T	ENSP00000346291:A1510T	A	-	1	0	MYO18A	24445976	0.195000	0.23338	0.869000	0.34112	0.993000	0.82548	0.897000	0.28390	1.452000	0.47756	0.655000	0.94253	GCA		0.552	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		106	381	0	0	0	1	0	106	381					T	27421850	C	T	27421850	3	4	79	1	0	0	0	0	1	0	0	0	10106	710	25	2	1688	2	MYO18A	17	27421850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138621	27421850	53773360	17118	27435											
MYO18A	399687	broad.mit.edu	37	chr17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgcttcttctccagttCgtggttgcggacctgctggc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4363-4365)Gaa>Aaa		myosin XVIIIA							31	35	34					17																	27423801		2051	4212	6263	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27423801C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4363G>A	17.37:g.27423801C>T	ENSP00000437073:p.Glu1455Lys					MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K	p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4543	-			1455					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4363G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	MYO18A	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	65	0	0	0	1	0	13	65					T	27423801	C	T	27423801	3	4	79	1	0	0	0	0	1	0	0	0	10106	893	31	1	1861	1	MYO18A	17	27423801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951	27423801	53771409	17119	27436											
MYO18A	399687	broad.mit.edu	37	chr17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggacaactcacccGgctcaggcccatgcagcagc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1169	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAACTCACCCGGCTCAGGCCC	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3505-3507)Cgg>Tgg		myosin XVIIIA							45	51	49					17																	27430619		2057	4200	6257	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27430619G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3505C>T	17.37:g.27430619G>A	ENSP00000437073:p.Arg1169Trp					MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W	p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		21	3685	-			1169			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3505C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387448	0.82902	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.101322	0.64402	D	0.000002	D	0.92492	0.7616	L	0.52011	1.625	0.44337	D	0.997222	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.946;0.95;0.96;0.942;0.98	D	0.93184	0.6577	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:1.0:0.0	.	838;781;1169;1169;1169	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	W	1169;1169;1169;1169;1169;65;65;781	ENSP00000346291:R1169W;ENSP00000435932:R1169W;ENSP00000434228:R1169W;ENSP00000437073:R1169W	ENSP00000346291:R1169W	R	-	1	2	MYO18A	24454745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.168000	0.71908	2.464000	0.83262	0.561000	0.74099	CGG		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		51	193	0	0	0	1	0	51	193					A	27430619	G	A	27430619	3	1	79	1	0	0	0	0	1	0	0	0	10106	1115	39	1	2747	1	MYO18A	17	27430619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6818	27430619	53764591	17120	27437											
MYO18A	399687	broad.mit.edu	37	chr17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggcaagttgagctcctcaGatttgagttgactggctgca	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	368	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTCCTCAGATTTGAGTTG	0.592																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1102-1104)tCt>tAt		myosin XVIIIA							88	90	89					17																	27448960		2077	4209	6286	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448960G>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1103C>A	17.37:g.27448960G>T	ENSP00000437073:p.Ser368Tyr					MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y	p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	1283	-			368					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1103C>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221731	0.79464	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	D;D;D;D	0.89123	-2.36;-2.47;-2.36;-2.36	5.64	5.64	0.86602	.	0.052624	0.85682	D	0.000000	D	0.87748	0.6255	L	0.40543	1.245	0.48632	D	0.999683	P;D;D;D	0.54964	0.837;0.969;0.969;0.958	P;P;P;B	0.46110	0.504;0.461;0.461;0.362	D	0.89266	0.3601	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	37;368;368;368	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Y	368;368;368;368;368;48	ENSP00000346291:S368Y;ENSP00000435932:S368Y;ENSP00000434228:S368Y;ENSP00000437073:S368Y	ENSP00000346291:S368Y	S	-	2	0	MYO18A	24473086	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	5.170000	0.64990	2.655000	0.90218	0.655000	0.94253	TCT		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		35	379	1	0	1.42033e-22	1	1.60844e-22	35	379					T	27448960	G	T	27448960	3	4	79	1	0	0	0	0	1	0	0	0	10106	942	33	3	5217	3	MYO18A	17	27448960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18341	27448960	53746250	17121	27438											
MYO18A	399687	broad.mit.edu	37	chr17	27493855	27493855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctcatctcctccaggCtccgaagctctgccgctgac	10	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	ENST00000527372.1	-	2	284	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	35	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCTCCAGGCTCCGAAGCTC	0.537																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(103-105)aGc>aTc		myosin XVIIIA							37	46	43					17																	27493855		2191	4292	6483	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493855C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.104G>T	17.37:g.27493855C>A	ENSP00000437073:p.Ser35Ile					MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I	p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	284	-			35					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.104G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325852	0.60743	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89343	-2.39;-2.5;-2.39;-2.39	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.29908	0.895	0.47374	D	0.9994	P;D;D	0.56746	0.944;0.977;0.961	P;P;P	0.54100	0.66;0.742;0.556	D	0.90440	0.4431	10	0.72032	D	0.01	.	17.9578	0.89075	0.0:1.0:0.0:0.0	.	35;35;35	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	I	35	ENSP00000346291:S35I;ENSP00000435932:S35I;ENSP00000434228:S35I;ENSP00000437073:S35I	ENSP00000346291:S35I	S	-	2	0	MYO18A	24517981	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.488000	0.66869	2.578000	0.87016	0.467000	0.42956	AGC		0.537	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		11	42	1	0	3.07112e-06	1	3.16074e-06	11	42					A	27493855	C	A	27493855	3	1	79	1	0	0	0	0	1	0	0	0	10106	797	28	3	6224	3	MYO18A	17	27493855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44895	27493855	53701355	17122	27439											
TAOK1	57551	broad.mit.edu	37	chr17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaatgagtgccttatAtcacatagcccaaaatgaat	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(703-705)tAt>tGt		TAO kinase 1							114	115	115					17																	27816730		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27816730A>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.704A>G	17.37:g.27816730A>G	ENSP00000261716:p.Tyr235Cys					TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		9	1223	+			235			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.704A>G	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483511	0.84854	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85629	-2.01;-2.01	5.59	5.59	0.84812	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	0.90154	0.6923	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.931;0.992	D	0.91184	0.4978	10	0.87932	D	0	.	15.7746	0.78204	1.0:0.0:0.0:0.0	.	235;61;235	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	235	ENSP00000261716:Y235C;ENSP00000438819:Y235C	ENSP00000261716:Y235C	Y	+	2	0	TAOK1	24840856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.118000	0.64928	0.383000	0.25322	TAT		0.348	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		82	434	0	0	0	1	0	82	434					G	27816730	A	G	27816730	3	3	79	1	0	0	0	0	1	0	0	0	15599	449	16	4	734	4	TAOK1	17	27816730	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	322875	27816730	53378480	17123	27440											
TAOK1	57551	broad.mit.edu	37	chr17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcatgccatgctactcCgacagcatgaatctatgcaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	654					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1960-1962)Cga>Tga		TAO kinase 1							94	85	88					17																	27849349		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849349C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1960C>T	17.37:g.27849349C>T	ENSP00000261716:p.Arg654*					TAOK1_ENST00000536202.1_Intron	p.R654*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2479	+			654					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.1960C>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	42	9.535808	0.99198	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3638	0.83307	0.133:0.867:0.0:0.0	.	.	.	.	X	654	.	ENSP00000261716:R654X	R	+	1	2	TAOK1	24873475	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.231000	0.51294	1.486000	0.48398	0.643000	0.83706	CGA		0.423	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		64	347	0	0	0	1	0	64	347					T	27849349	C	T	27849349	4	4	79	1	0	0	0	0	0	1	0	0	15599	644	23	1	2022	1	TAOK1	17	27849349	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32619	27849349	53345861	17124	27441											
ABHD15	116236	broad.mit.edu	37	chr17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacagtggcctccgtggcGactgagcaggaggaagaagt	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	387						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1159-1161)Cgc>Tgc		abhydrolase domain containing 15							62	64	63					17																	27889827		2203	4300	6503	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27889827G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1159C>T	17.37:g.27889827G>A	ENSP00000302657:p.Arg387Cys					RP11-68I3.2_ENST00000581474.1_RNA	p.R387C	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			2	1329	-			387					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.1159C>T	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174694	0.57692	.	.	ENSG00000168792	ENST00000307201	T	0.67698	-0.28	5.84	3.81	0.43845	.	0.930570	0.09131	N	0.844335	T	0.66626	0.2808	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.9113	14.2909	0.66278	0.0:0.0:0.7297:0.2703	.	387	Q6UXT9	ABH15_HUMAN	C	387	ENSP00000302657:R387C	ENSP00000302657:R387C	R	-	1	0	ABHD15	24913953	0.052000	0.20516	0.641000	0.29422	0.954000	0.61252	2.244000	0.43124	0.789000	0.33779	-0.182000	0.12963	CGC		0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		49	331	0	0	0	1	0	49	331					A	27889827	G	A	27889827	3	1	79	1	0	0	0	0	1	0	0	0	81	1058	37	1	251	1	ABHD15	17	27889827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40478	27889827	53305383	17125	27442											
ABHD15	116236	broad.mit.edu	37	chr17	27893616	27893616	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaactgcaggtactcccgGgccagctcaggcccaggcgc	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000301057.7_5'Flank|TP53I13_ENST00000584522.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	123						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(367-369)gcC>gcA		abhydrolase domain containing 15							26	23	24					17																	27893616		2193	4277	6470	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27893616G>T	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.369C>A	17.37:g.27893616G>T						RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_Intron	p.A123A	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			1	539	-			123					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.369C>A	CCDS32602.1																																																																																				0.716	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		31	156	1	0	1.36615e-20	1	1.53219e-20	31	156					T	27893616	G	T	27893616	2	4	79	1	0	0	0	0	0	0	0	1	81	1219	43	3		3	ABHD15	17	27893616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3789	27893616	53301594	17126	27443											
TP53I13	90313	broad.mit.edu	37	chr17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtggtgccaagaggcggaGgctgcgggctgcccttggtc	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	206						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662																																						ENST00000301057.7																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(616-618)aGg>aTg		tumor protein p53 inducible protein 13							20	23	22					17																	27899263		2023	4161	6184	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899263G>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.617G>T	17.37:g.27899263G>T	ENSP00000301057:p.Arg206Met					RP11-68I3.2_ENST00000581474.1_RNA	p.R206M	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	6	732	+			206					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.617G>T	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.273278	0.28414	N	0.015435	T	0.25975	0.0633	N	0.22421	0.69	0.23411	N	0.997732	P	0.45827	0.867	B	0.41764	0.366	T	0.13953	-1.0490	9	0.52906	T	0.07	-15.1754	11.6787	0.51444	0.0:0.0:1.0:0.0	.	206	Q8NBR0	P5I13_HUMAN	M	206	.	ENSP00000301057:R206M	R	+	2	0	TP53I13	24923389	0.185000	0.23213	0.999000	0.59377	0.241000	0.25554	0.688000	0.25422	2.199000	0.70637	0.462000	0.41574	AGG		0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		47	213	1	0	1.48734e-19	1	1.65976e-19	47	213					T	27899263	G	T	27899263	3	4	79	1	0	0	0	0	1	0	0	0	16439	1000	35	3	639	3	TP53I13	17	27899263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5647	27899263	53295947	17127	27444											
GIT1	28964	broad.mit.edu	37	chr17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaagcttgtgcacaaAtgccagcatctggtacttgg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	116	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGTGCACAAATGCCAGCATC	0.587																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(346-348)Ttt>Gtt		G protein-coupled receptor kinase interacting ArfGAP 1							92	81	85					17																	27909775		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27909775A>C	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.346T>G	17.37:g.27909775A>C	ENSP00000225394:p.Phe116Val					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V	p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	4	594	-			116			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.346T>G	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750783	0.89753	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.50813	0.73;0.73	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.69078	0.971;0.996;0.997;0.997	D;D;D;D	0.80764	0.951;0.991;0.994;0.981	D	0.84535	0.0635	10	0.87932	D	0	.	13.1832	0.59666	1.0:0.0:0.0:0.0	.	120;116;116;116	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	116	ENSP00000225394:F116V;ENSP00000378338:F116V	ENSP00000225394:F116V	F	-	1	0	GIT1	24933901	1.000000	0.71417	0.908000	0.35775	0.983000	0.72400	9.087000	0.94110	2.022000	0.59522	0.454000	0.30748	TTT		0.587	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		58	204	0	0	0	1	0	58	204					C	27909775	A	C	27909775	3	2	79	1	0	0	0	0	1	0	0	0	6425	101	4	4	2038	4	GIT1	17	27909775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10512	27909775	53285435	17128	27445											
GIT1	28964	broad.mit.edu	37	chr17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggccaggcgctgtggCgaaggtgcttgacaatggag	19	7	0	1	rs200603121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	52	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGCTGTGGCGAAGGTGCTT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21121	0.0		0.0	False		,,,				2504	0.0				Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(154-156)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	63	72		155,155	4.8	1	17		72	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	GIT1	NM_001085454.1,NM_014030.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	52/771,52/762	27910532	1,13003	2203	4299	6502	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27910532C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.155G>A	17.37:g.27910532C>T	ENSP00000225394:p.Arg52His					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H	p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	2	403	-			52			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.155G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886017	0.72410	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.16201	0.385	0.80722	D	1	P;B;P;B	0.34662	0.462;0.407;0.462;0.068	B;B;B;B	0.29785	0.107;0.062;0.103;0.041	T	0.48317	-0.9046	10	0.25751	T	0.34	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	56;52;52;52	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	52	ENSP00000225394:R52H;ENSP00000378338:R52H	ENSP00000225394:R52H	R	-	2	0	GIT1	24934658	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	2.532000	0.45659	2.688000	0.91661	0.655000	0.94253	CGC		0.642	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		32	138	0	0	0	1	0	32	138					T	27910532	C	T	27910532	3	4	79	1	0	0	0	0	1	0	0	0	6425	768	27	1	2237	1	GIT1	17	27910532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	27910532	53284678	17129	27446											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939445	27939445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcttccacatcctcaaCgcccgcatcaccttcgggaa	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	428						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ACATCCTCAACGCCCGCATCA	0.637																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1282-1284)aaC>aaT		ankyrin repeat domain 13B							41	42	42					17																	27939445		2203	4299	6502	SO:0001819	synonymous_variant	124930							g.chr17:27939445C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1284C>T	17.37:g.27939445C>T						RP11-68I3.2_ENST00000581474.1_RNA	p.N428N	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			12	1438	+			428					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1284C>T	CCDS11251.1																																																																																				0.637	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		13	113	0	0	0	1	0	13	113					T	27939445	C	T	27939445	2	4	79	1	0	0	0	0	0	0	0	1	642	535	19	1		1	ANKRD13B	17	27939445	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28913	27939445	53255765	17130	27447											
EFCAB5	374786	broad.mit.edu	37	chr17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagaacaagggtcacGcagagagtctattgcagaac	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1825-1827)cGc>cAc		EF-hand calcium binding domain 5							246	236	239					17																	28380798		2112	4227	6339	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380798G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1826G>A	17.37:g.28380798G>A	ENSP00000378312:p.Arg609His					EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H	p.R609H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2018	+			609					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1826G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881093	0.33255	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	-9.32	0.00643	.	1.031300	0.07709	N	0.941752	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.18610	0.017;0.029;0.011;0.029;0.001;0.006	B;B;B;B;B;B	0.12837	0.003;0.008;0.004;0.005;0.0;0.003	T	0.15378	-1.0439	10	0.15499	T	0.54	5.8403	2.6649	0.05041	0.4122:0.0884:0.3233:0.1761	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	H	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553H;ENSP00000445575:R266H;ENSP00000378312:R609H;ENSP00000322003:R609H;ENSP00000378309:R609H;ENSP00000368012:R609H;ENSP00000417009:R415H	ENSP00000322003:R609H	R	+	2	0	EFCAB5	25404924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.602000	0.00891	-1.290000	0.02372	-1.561000	0.00884	CGC		0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		104	542	0	0	0	1	0	104	542					A	28380798	G	A	28380798	3	1	79	1	0	0	0	0	1	0	0	0	4954	1087	38	1	1864	1	EFCAB5	17	28380798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441353	28380798	52814412	17131	27448											
EFCAB5	374786	broad.mit.edu	37	chr17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagagcaagaagacaTaggctcaacttcacaatcaa	7	9	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	667							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1999-2001)aTa>aCa		EF-hand calcium binding domain 5							89	80	83					17																	28380972		1858	4108	5966	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380972T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2000T>C	17.37:g.28380972T>C	ENSP00000378312:p.Ile667Thr					EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T	p.I667T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2192	+			667					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2000T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176404	0.09443	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.97;2.97;2.29;1.97;2.97	5.14	-5.04	0.02964	.	2.425250	0.01699	N	0.027091	T	0.13586	0.0329	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.17268	0.012;0.021;0.001;0.002;0.007;0.001	B;B;B;B;B;B	0.10450	0.004;0.003;0.001;0.002;0.005;0.001	T	0.10894	-1.0610	10	0.11794	T	0.64	3.3471	2.0208	0.03509	0.1158:0.2281:0.3554:0.3007	.	611;611;667;667;667;667	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	T	611;410;324;667;667;667;667;611;473	ENSP00000440619:I611T;ENSP00000445575:I324T;ENSP00000378312:I667T;ENSP00000322003:I667T;ENSP00000378309:I667T;ENSP00000368012:I667T;ENSP00000417009:I473T	ENSP00000322003:I667T	I	+	2	0	EFCAB5	25405098	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.336000	0.01105	-0.899000	0.03901	0.524000	0.50904	ATA		0.378	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		15	176	0	0	0	1	0	15	176					C	28380972	T	C	28380972	3	2	79	1	0	0	0	0	1	0	0	0	4954	1406	49	4	2038	4	EFCAB5	17	28380972	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	28380972	52814238	17132	27449											
EFCAB5	374786	broad.mit.edu	37	chr17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaatgctttccaagtcCgacagaggcttctcctagaa	8	12	1	2	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	869	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2605-2607)Cga>Tga		EF-hand calcium binding domain 5							115	115	115					17																	28386587		1859	4087	5946	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28386587C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2605C>T	17.37:g.28386587C>T	ENSP00000378312:p.Arg869*					EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000320856.5_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000541045.1_Intron	p.R869*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			14	2797	+			869			EF-hand.		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.2605C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910587	0.97928	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7418	13.2178	0.59871	0.1606:0.8394:0.0:0.0	.	.	.	.	X	869	.	ENSP00000368012:R869X	R	+	1	2	EFCAB5	25410713	0.808000	0.29022	0.089000	0.20774	0.072000	0.16883	1.723000	0.38053	1.246000	0.43901	-0.538000	0.04264	CGA		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		87	376	0	0	0	1	0	87	376					T	28386587	C	T	28386587	4	4	79	1	0	0	0	0	0	1	0	0	4954	644	23	1	2659	1	EFCAB5	17	28386587	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	28386587	52808623	17133	27450											
EFCAB5	374786	broad.mit.edu	37	chr17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactcttgtacacatacaaGgagggaatggaaaaagaatc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	902	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2704-2706)aaG>aaT		EF-hand calcium binding domain 5							65	64	64					17																	28386688		1838	4092	5930	SO:0001583	missense	374786						calcium ion binding	g.chr17:28386688G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2706G>T	17.37:g.28386688G>T	ENSP00000378312:p.Lys902Asn					EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|EFCAB5_ENST00000320856.5_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000541045.1_Intron	p.K902N	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			14	2898	+			902			EF-hand.		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2706G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424923	0.62733	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.21031	2.03;2.03;2.03	5.35	3.33	0.38152	EF-hand-like domain (1);	.	.	.	.	T	0.43567	0.1253	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41752	-0.9491	9	0.87932	D	0	-17.5267	10.4304	0.44405	0.1645:0.0:0.8355:0.0	.	902;902	B5MEA3;A4FU69	.;EFCB5_HUMAN	N	902	ENSP00000378312:K902N;ENSP00000378309:K902N;ENSP00000368012:K902N	ENSP00000368012:K902N	K	+	3	2	EFCAB5	25410814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.089000	0.50183	1.259000	0.44117	0.449000	0.29647	AAG		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		52	186	1	0	2.55665e-31	1	3.00904e-31	52	186					T	28386688	G	T	28386688	3	4	79	1	0	0	0	0	1	0	0	0	4954	991	35	3	2760	3	EFCAB5	17	28386688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	28386688	52808522	17134	27451											
EFCAB5	374786	broad.mit.edu	37	chr17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatagtagttccacttcGtgagagaacaggagaggctc	12	8	0	3	rs146481233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1256							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20827	0.0		0.001	False		,,,				2504	0.0					ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3766-3768)cGt>cAt		EF-hand calcium binding domain 5							126	123	124					17																	28417522		1852	4094	5946	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417522G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3767G>A	17.37:g.28417522G>A	ENSP00000378312:p.Arg1256His					EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|RP11-1148O4.2_ENST00000582938.1_RNA	p.R1256H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			20	3959	+			1256					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3767G>A	CCDS11254.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.93	3.258665	0.59321	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.24538	1.85;1.92;1.91	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000071	T	0.46328	0.1387	M	0.74258	2.255	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.861;0.861	T	0.41910	-0.9482	10	0.51188	T	0.08	-12.5922	13.5817	0.61907	0.0768:0.0:0.9232:0.0	.	1132;1256	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1256;1132;938	ENSP00000378312:R1256H;ENSP00000322003:R1132H;ENSP00000417009:R938H	ENSP00000322003:R1132H	R	+	2	0	EFCAB5	25441648	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.360000	0.59455	2.535000	0.85469	0.655000	0.94253	CGT		0.393	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		109	415	0	0	0	1	0	109	415					A	28417522	G	A	28417522	3	1	79	1	0	0	0	0	1	0	0	0	4954	1145	40	1	4012	1	EFCAB5	17	28417522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30834	28417522	52777688	17135	27452											
EFCAB5	374786	broad.mit.edu	37	chr17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatatgtatgcaaaaatgCcaggggaaggtttgcaagag	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding (GO:0005509)	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353																																						ENST00000394835.3																			1	Substitution - Missense(1)	p.P1496A(1)	lung(1)	breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4486-4488)Cca>Tca		EF-hand calcium binding domain 5							152	141	145					17																	28435016		1862	4103	5965	SO:0001583	missense	374786						calcium ion binding	g.chr17:28435016C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4486C>T	17.37:g.28435016C>T	ENSP00000378312:p.Pro1496Ser					EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|RP11-1148O4.2_ENST00000582938.1_RNA	p.P1496S	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			23	4678	+			1496					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4486C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565278	0.65651	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.17213	3.03;3.02;2.29;3.03	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.14399	0.0348	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.046;0.1	B;B;B	0.30105	0.066;0.038;0.111	T	0.15636	-1.0430	10	0.38643	T	0.18	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	S	1496;1372;968;1178	ENSP00000378312:P1496S;ENSP00000322003:P1372S;ENSP00000378309:P968S;ENSP00000417009:P1178S	ENSP00000322003:P1372S	P	+	1	0	EFCAB5	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA		0.353	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		80	392	0	0	0	1	0	80	392					T	28435016	C	T	28435016	3	4	79	1	0	0	0	0	1	0	0	0	4954	739	26	2	4743	2	EFCAB5	17	28435016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17494	28435016	52760194	17136	27453											
CCDC55	84081	broad.mit.edu	37	chr17	28512482	28512482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaaaccaagagaaaccCtctaattctgaatcatcact	5	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28512482C>T	ENST00000247026.5	+	7	1530	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	489					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAGAGAAACCCTCTAATTCTG	0.433																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1465-1467)ccC>ccT		nuclear speckle splicing regulatory protein 1							93	94	94					17																	28512482		2203	4300	6503	SO:0001819	synonymous_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512482C>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1467C>T	17.37:g.28512482C>T						NSRP1_ENST00000540900.3_3'UTR	p.P489P	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	1530	+			489					Q6FI71	Silent	SNP	ENST00000247026.5	37	c.1467C>T	CCDS11255.1																																																																																				0.433	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		72	347	0	0	0	1	0	72	347					T	28512482	C	T	28512482	2	4	79	1	0	0	0	0	0	0	0	1	2832	668	24	2		2	CCDC55	17	28512482	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77466	28512482	52682728	17137	27454											
SLC6A4	6532	broad.mit.edu	37	chr17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacatcagaaagaagatgaTggcaaagaaagtggacgctg	12	5	1	5	rs28914832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity). {ECO:0000269|PubMed:14593431, ECO:0000269|PubMed:17913921}.		brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AAGAAGATGATGGCAAAGAAA	0.537													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21874	0.0		0.0	False		,,,				2504	0.0					ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25	GRCh37	CM033983|CM057406	SLC6A4	M	rs28914832	c.(1273-1275)Atc>Gtc		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	139	129	133	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1273	5.2	1	17	dbSNP_125	133	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SLC6A4	NM_001045.4	29	0,13,6490	CC,CT,TT		0.1279,0.0454,0.1	benign	425/631	28538374	13,12993	2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28538374T>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1273A>G	17.37:g.28538374T>C	ENSP00000385822:p.Ile425Val					SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V	p.I425V			P31645	SC6A4_HUMAN			9	1785	-			425		I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity).			Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1273A>G	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510509	0.44660	4.54E-4	0.001279	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.33792	1.035	0.80722	D	1	B	0.17465	0.022	B	0.25405	0.06	T	0.56378	-0.7989	10	0.25106	T	0.35	.	14.4528	0.67397	0.0:0.0:0.0:1.0	.	425	P31645	SC6A4_HUMAN	V	467;425;425	ENSP00000385822:I425V;ENSP00000261707:I425V	ENSP00000261707:I425V	I	-	1	0	SLC6A4	25562500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.202000	0.70862	0.379000	0.24179	ATC		0.537	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		35	183	0	0	0	1	0	35	183					C	28538374	T	C	28538374	3	2	79	1	0	0	0	0	1	0	0	0	14736	1464	51	4	643	4	SLC6A4	17	28538374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25892	28538374	52656836	17138	27455											
TBC1D29	26083	broad.mit.edu	37	chr17	28890251	28890251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaagagccagacccatTtgtgagagcctccactcctc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000580161.1	+	6	2758	c.261T>C	c.(259-261)atT>atC	p.I87I	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_Missense_Mutation_p.F71S|TBC1D29_ENST00000579181.1_Silent_p.I87I			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	87							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622																																						ENST00000584297.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(211-213)tTt>tCt		TBC1 domain family, member 29							24	24	24					17																	28890251		2203	4300	6503	SO:0001819	synonymous_variant	26083					intracellular	Rab GTPase activator activity	g.chr17:28890251T>C	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.261T>C	17.37:g.28890251T>C						TBC1D29_ENST00000580161.1_Silent_p.I87I|TBC1D29_ENST00000579181.1_Silent_p.I87I	p.F71S			Q9UFV1	TBC29_HUMAN			4	361	+		Myeloproliferative disorder(56;0.0255)	0						Missense_Mutation	SNP	ENST00000580161.1	37	c.212T>C	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	5.244	0.230510	0.09969	.	.	ENSG00000197689	ENST00000378698	.	.	.	.	.	.	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.39079	D	0.96086	.	.	.	.	.	.	T	0.45469	-0.9259	3	0.25751	T	0.34	.	.	.	.	.	.	.	.	S	71	.	ENSP00000367970:F71S	F	+	2	0	TBC1D29	25914377	0.044000	0.20184	0.047000	0.18901	0.047000	0.14425	-0.099000	0.11007	0.093000	0.17368	0.092000	0.15492	TTT		0.622	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		29	98	0	0	0	1	0	29	98					C	28890251	T	C	28890251	2	2	79	1	0	0	0	0	0	0	0	1	15670	1829	64	4		4	TBC1D29	17	28890251	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	351877	28890251	52304959	17139	27456											
ATAD5	79915	broad.mit.edu	37	chr17	29161693	29161693	+	Frame_Shift_Del	DEL	A	A	-													aatcctaaacaagggaccacAaaaaatgacttcaaaaagtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29161693delA	ENST00000321990.4	+	2	972	c.594delA	c.(592-594)acafs	p.T198fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	198					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGGACCACAAAAAATGACT	0.338																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(592-594)acfs		ATPase family, AAA domain containing 5							70	77	75					17																	29161693		2199	4299	6498	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161693delA		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.594delA	17.37:g.29161693delA	ENSP00000313171:p.Thr198fs					CTD-2349P21.11_ENST00000580873.1_RNA	p.T198fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	972	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	198					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.594delA	CCDS11260.1																																																																																				0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		16	539						16	539	---	---	---	---	-	29161693	A	-	29161693	7	5	79	1	0	1	0	1	0	0	0	0	1077	117	5	0	600	0	ATAD5	17	29161693	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	271442	29161693	52033517	17140	27457											
ATAD5	79915	broad.mit.edu	37	chr17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaaatagaatgagtTtaagacaaaggaaaacagag	8	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	520					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAATGAGTTTAAGACAAAG	0.318																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1558-1560)Tta>Gta		ATPase family, AAA domain containing 5							57	66	62					17																	29162657		2196	4291	6487	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162657T>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1558T>G	17.37:g.29162657T>G	ENSP00000313171:p.Leu520Val					CTD-2349P21.11_ENST00000580873.1_RNA	p.L520V	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	1936	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	520					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1558T>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739325	0.15642	.	.	ENSG00000176208	ENST00000321990	T	0.09911	2.93	5.76	4.67	0.58626	.	6.041910	0.00166	N	0.000001	T	0.09949	0.0244	L	0.43923	1.385	0.20975	N	0.999815	B;B	0.31193	0.312;0.108	B;B	0.25884	0.064;0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	7.0325	0.24975	0.0:0.0747:0.2951:0.6302	.	520;520	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	520	ENSP00000313171:L520V	ENSP00000313171:L520V	L	+	1	2	ATAD5	26186783	0.816000	0.29132	1.000000	0.80357	0.983000	0.72400	0.313000	0.19415	0.989000	0.38761	0.533000	0.62120	TTA		0.318	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		72	274	0	0	0	1	0	72	274					G	29162657	T	G	29162657	3	3	79	1	0	0	0	0	1	0	0	0	1077	1838	64	4	1564	4	ATAD5	17	29162657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	964	29162657	52032553	17141	27458											
ATAD5	79915	broad.mit.edu	37	chr17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaatgcctcttcccagCgcagtggtagacaaattcta	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1162					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCTTCCCAGCGCAGTGGTAG	0.353																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3484-3486)Cgc>Tgc		ATPase family, AAA domain containing 5							121	119	120					17																	29196541		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196541C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3484C>T	17.37:g.29196541C>T	ENSP00000313171:p.Arg1162Cys						p.R1162C	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			14	3862	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1162					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3484C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004580	0.54254	.	.	ENSG00000176208	ENST00000321990	T	0.19806	2.12	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169939	0.51477	D	0.000090	T	0.61299	0.2336	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72693	-0.4216	10	0.87932	D	0	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	1162;1162	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1162	ENSP00000313171:R1162C	ENSP00000313171:R1162C	R	+	1	0	ATAD5	26220667	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.581000	0.67471	2.642000	0.89623	0.655000	0.94253	CGC		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		84	346	0	0	0	1	0	84	346					T	29196541	C	T	29196541	3	4	79	1	0	0	0	0	1	0	0	0	1077	768	27	1	3538	1	ATAD5	17	29196541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33884	29196541	51998669	17142	27459											
ATAD5	79915	broad.mit.edu	37	chr17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttaatagctactacataGgcaagtcaccaagtaagtaa	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1199					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTACTACATAGGCAAGTCACC	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3595-3597)Ggc>Tgc		ATPase family, AAA domain containing 5							68	70	70					17																	29196652		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196652G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3595G>T	17.37:g.29196652G>T	ENSP00000313171:p.Gly1199Cys						p.G1199C	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			14	3973	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1199					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3595G>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548088	0.27652	.	.	ENSG00000176208	ENST00000321990	D	0.95272	-3.66	5.49	4.52	0.55395	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.172820	0.50627	D	0.000112	D	0.93831	0.8027	L	0.29908	0.895	0.37494	D	0.916487	D;D	0.76494	0.999;0.999	D;D	0.71414	0.934;0.973	D	0.93903	0.7190	10	0.72032	D	0.01	.	6.863	0.24077	0.2967:0.0:0.7033:0.0	.	1199;1199	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1199	ENSP00000313171:G1199C	ENSP00000313171:G1199C	G	+	1	0	ATAD5	26220778	0.946000	0.32159	0.940000	0.37924	0.962000	0.63368	1.684000	0.37649	1.317000	0.45149	0.561000	0.74099	GGC		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		62	274	1	0	1.48873e-21	1	1.67879e-21	62	274					T	29196652	G	T	29196652	3	4	79	1	0	0	0	0	1	0	0	0	1077	1000	35	3	3649	3	ATAD5	17	29196652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	29196652	51998558	17143	27460											
ADAP2	55803	broad.mit.edu	37	chr17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagagttaaatctgtgCgacttgacttctgggacgac	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000330889.3	+	2	528	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	65	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(193-195)Cga>Tga		ArfGAP with dual PH domains 2							158	155	156					17																	29250056		2203	4300	6503	SO:0001587	stop_gained	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29250056C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.193C>T	17.37:g.29250056C>T	ENSP00000329468:p.Arg65*					ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			2	528	+			65			Arf-GAP.		Q8N4Q6|Q96SD5	Nonsense_Mutation	SNP	ENST00000330889.3	37	c.193C>T	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021109	0.93462	.	.	ENSG00000184060	ENST00000330889	.	.	.	5.59	0.397	0.16314	.	0.317299	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3014	0.73955	0.2593:0.7407:0.0:0.0	.	.	.	.	X	65	.	ENSP00000329468:R65X	R	+	1	2	ADAP2	26274182	0.405000	0.25336	0.980000	0.43619	0.769000	0.43574	0.593000	0.23999	0.047000	0.15862	-0.397000	0.06425	CGA		0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		159	672	0	0	0	1	0	159	672					T	29250056	C	T	29250056	4	4	79	1	0	0	0	0	0	1	0	0	280	760	27	1	199	1	ADAP2	17	29250056	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53404	29250056	51945154	17144	27461											
ADAP2	55803	broad.mit.edu	37	chr17	29284866	29284866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcagctgcatcaacagaGagtggccgcagcagcaggtg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000330889.3	+	11	1460	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	ADAP2_ENST00000580525.1_Silent_p.E381E|AC091177.1_ENST00000442757.1_RNA|RN7SL138P_ENST00000577405.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1123-1125)gaG>gaA		ArfGAP with dual PH domains 2							67	54	59					17																	29284866		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29284866G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.1125G>A	17.37:g.29284866G>A						ADAP2_ENST00000580525.1_Silent_p.E381E	p.E375E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			11	1460	+			375					Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.1125G>A	CCDS11261.1																																																																																				0.582	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		15	90	0	0	0	1	0	15	90					A	29284866	G	A	29284866	2	1	79	1	0	0	0	0	0	0	0	1	280	933	33	2		2	ADAP2	17	29284866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34810	29284866	51910344	17145	27462											
NF1	4763	broad.mit.edu	37	chr17	29486049	29486050	+	Frame_Shift_Ins	INS	-	-	A													aatatttggagaagctgctgINSaaaaaaatttatatctctct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29486049_29486050insA	ENST00000358273.4	+	3	609_610	c.226_227insA	c.(226-228)gaafs	p.E76fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.E76fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.E76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	76					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E76fs*31(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGCTGCTGAAAAAAATTTA	0.327			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Insertion - Frameshift(1)	p.0?(8)|p.?(4)|p.E76fs*31(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(226-228)aaafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29486049_29486050insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.233dupA	17.37:g.29486056_29486056dupA	ENSP00000351015:p.Glu76fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.K76fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.K76fs	p.K76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	3	609_610	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	76					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.226_227insA	CCDS42292.1																																																																																				0.327	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		28	328						28	328	---	---	---	---	A	29486050	-	A	29486049	7	5	79	1	0	1	1	0	0	0	0	0	10398	1291	45	0	236	0	NF1	17	29486049	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	201183	29486049	51709161	17146	27463											
NF1	4763	broad.mit.edu	37	chr17	29661916	29661917	+	Frame_Shift_Ins	INS	-	-	T													tggctgtcaaatctagttcgINStttttgcaagcataatgatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661916_29661917insT	ENST00000358273.4	+	40	6256_6257	c.5873_5874insT	c.(5872-5877)cgttttfs	p.RF1958fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Ins_p.RF1937fs|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTAGTTCGTTTTTGCAAGC	0.356			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5872-5874)cttfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661916_29661917insT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5878dupT	17.37:g.29661921_29661921dupT	ENSP00000351015:p.Arg1958fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.L1937fs|NF1_ENST00000581113.2_3'UTR	p.L1958fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6256_6257	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1958					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5873_5874insT	CCDS42292.1																																																																																				0.356	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		62	275						62	275	---	---	---	---	T	29661917	-	T	29661916	7	5	79	1	0	1	1	0	0	0	0	0	10398	1145	40	0	6092	0	NF1	17	29661916	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	175867	29661916	51533294	17147	27464											
NF1	4763	broad.mit.edu	37	chr17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaacgacaaagagttActgctattcttgacaagctg	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1972					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGAGTTACTGCTATTCT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5914-5916)Act>Gct		neurofibromin 1							126	113	118					17																	29661957		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661957A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5914A>G	17.37:g.29661957A>G	ENSP00000351015:p.Thr1972Ala	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000581113.2_3'UTR	p.T1972A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6297	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1972					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5914A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663107	0.29515	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.27256	1.68;1.68;1.68	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.01473	-0.845	0.80722	D	1	B;B	0.26147	0.143;0.0	B;B	0.20184	0.028;0.002	T	0.26677	-1.0096	10	0.17369	T	0.5	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1951;1972	P21359-2;P21359	.;NF1_HUMAN	A	1972;1951;1617	ENSP00000351015:T1972A;ENSP00000348498:T1951A;ENSP00000389907:T1617A	ENSP00000348498:T1951A	T	+	1	0	NF1	26686083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	ACT		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		65	263	0	0	0	1	0	65	263					G	29661957	A	G	29661957	3	3	79	1	0	0	0	0	1	0	0	0	10398	391	14	4	6133	4	NF1	17	29661957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41	29661957	51533253	17148	27465											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagctgcgacagaaccGccttgagttccagaaggagc	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1456-1458)cGc>cAc		RAB11 family interacting protein 4 (class II)							90	85	86					17																	29855524		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29855524G>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1457G>A	17.37:g.29855524G>A	ENSP00000312837:p.Arg486His					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	p.R486H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			12	1686	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	486			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1457G>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082171	0.55861	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.81046	-0.1110	8	.	.	.	-26.563	17.1298	0.86724	0.0:0.0:1.0:0.0	.	384;486	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	H	486	.	.	R	+	2	0	RAB11FIP4	26879644	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.711000	0.92665	0.655000	0.94253	CGC		0.622	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		78	373	0	0	0	1	0	78	373					A	29855524	G	A	29855524	3	1	79	1	0	0	0	0	1	0	0	0	12946	1087	38	1	1503	1	RAB11FIP4	17	29855524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193567	29855524	51339686	17149	27466											
C17orf79	55352	broad.mit.edu	37	chr17	30180005	30180005	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcagaatgggtgccctCaccccgggcaggactgtcat	11	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30180005C>T	ENST00000302362.6	-	3	348	c.211G>A	c.(211-213)Gag>Aag	p.E71K	COPRS_ENST00000378634.2_Missense_Mutation_p.E59K	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	71					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TGGGTGCCCTCACCCCGGGCA	0.517																																						ENST00000378634.2																			0											c.(175-177)Gag>Aag		coordinator of PRMT5, differentiation stimulator							177	181	180					17																	30180005		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30180005C>T	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"cooperator of PRMT5"		"chromosome 17 open reading frame 79"	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.211G>A	17.37:g.30180005C>T	ENSP00000304327:p.Glu71Lys					COPRS_ENST00000302362.6_Missense_Mutation_p.E71K	p.E59K							3	428	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.175G>A	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701964	0.68501	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.49139	0.79;0.79	5.79	3.25	0.37280	.	0.335010	0.23813	N	0.044309	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.28998	0.23	B	0.27170	0.077	T	0.27434	-1.0074	10	0.72032	D	0.01	-12.8105	6.3167	0.21194	0.0:0.7003:0.1642:0.1354	.	71	Q9NQ92	COPR5_HUMAN	K	71;59	ENSP00000304327:E71K;ENSP00000367901:E59K	ENSP00000304327:E71K	E	-	1	0	C17orf79	27204118	0.114000	0.22134	0.033000	0.17914	0.012000	0.07955	1.176000	0.31957	0.483000	0.27608	0.563000	0.77884	GAG		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		197	964	0	0	0	1	0	197	964					T	30180005	C	T	30180005	3	4	79	1	0	0	0	0	1	0	0	0	1890	835	29	2	351	2	C17orf79	17	30180005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324481	30180005	51015205	17150	27467											
LRRC37B	114659	broad.mit.edu	37	chr17	30349743	30349743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtgagctctgcacctgCggagatgagactctgtcatg	12	9	3	3	rs146053152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000341671.7	+	1	1583	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000327564.7_Silent_p.C553C|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	526						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTGCACCTGCGGAGATGAGA	0.532																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1657-1659)tgC>tgT		leucine rich repeat containing 37B		C		0,4402		0,0,2201	75	69	71		1578	-1.8	0	17	dbSNP_134	71	2,8586		0,2,4292	no	coding-synonymous	LRRC37B	NM_052888.2		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		526/948	30349743	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349743C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1578C>T	17.37:g.30349743C>T						LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000341671.7_Silent_p.C526C	p.C553C			Q96QE4	LR37B_HUMAN			1	1720	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	526					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1659C>T	CCDS32609.1																																																																																				0.532	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		109	493	0	0	0	1	0	109	493					T	30349743	C	T	30349743	2	4	79	1	0	0	0	0	0	0	0	1	9032	776	27	1		1	LRRC37B	17	30349743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169738	30349743	50845467	17151	27468											
LRRC37B	114659	broad.mit.edu	37	chr17	30361959	30361959	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaatcctctgactactgtCgaagatccatatctctttga	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000341671.7	+	6	2012	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LRRC37B_ENST00000327564.7_Silent_p.V696V|LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	669						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGACTACTGTCGAAGATCCAT	0.318																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2086-2088)gtC>gtT		leucine rich repeat containing 37B							59	56	57					17																	30361959		2203	4297	6500	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30361959C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2007C>T	17.37:g.30361959C>T						LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000341671.7_Silent_p.V669V	p.V696V			Q96QE4	LR37B_HUMAN			6	2149	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	669					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.2088C>T	CCDS32609.1																																																																																				0.318	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		21	209	0	0	0	1	0	21	209					T	30361959	C	T	30361959	2	4	79	1	0	0	0	0	0	0	0	1	9032	871	31	1		1	LRRC37B	17	30361959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	30361959	50833251	17152	27469											
LRRC37B	114659	broad.mit.edu	37	chr17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacacttacaacacttaAgaacattctcacgatgactg	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000341671.7	+	7	2092	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	696						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAACACTTAAGAACATTCTC	0.303																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2167-2169)aAg>aCg		leucine rich repeat containing 37B							187	177	180					17																	30362622		2203	4299	6502	SO:0001583	missense	114659					integral to membrane		g.chr17:30362622A>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2087A>C	17.37:g.30362622A>C	ENSP00000340519:p.Lys696Thr					LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K696T	p.K723T			Q96QE4	LR37B_HUMAN			7	2229	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	696					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2168A>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.110991	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.52295	0.67;0.67;0.84;0.67	2.72	2.72	0.32119	.	.	.	.	.	T	0.33206	0.0855	L	0.33485	1.01	0.09310	N	1	P;B	0.35174	0.488;0.208	B;B	0.32211	0.142;0.016	T	0.19063	-1.0317	9	0.52906	T	0.07	.	7.2683	0.26242	1.0:0.0:0.0:0.0	.	645;696	Q17RC9;Q96QE4	.;LR37B_HUMAN	T	614;723;645;696	ENSP00000443345:K614T;ENSP00000332536:K723T;ENSP00000378202:K645T;ENSP00000340519:K696T	ENSP00000332536:K723T	K	+	2	0	LRRC37B	27386735	0.971000	0.33674	0.038000	0.18304	0.005000	0.04900	1.316000	0.33620	1.474000	0.48178	0.450000	0.29827	AAG		0.303	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		170	698	0	0	0	1	0	170	698					C	30362622	A	C	30362622	3	2	79	1	0	0	0	0	1	0	0	0	9032	72	3	4	2113	4	LRRC37B	17	30362622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	663	30362622	50832588	17153	27470											
LRRC37B	114659	broad.mit.edu	37	chr17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgccaagctcatgttgCgaacaggcctcctgatgaag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000341671.7	+	10	2538	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	845						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGTTGCGAACAGGCCT	0.438																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2614-2616)Cga>Tga		leucine rich repeat containing 37B							79	70	73					17																	30376270		2203	4298	6501	SO:0001587	stop_gained	114659					integral to membrane		g.chr17:30376270C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2533C>T	17.37:g.30376270C>T	ENSP00000340519:p.Arg845*					LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.R845*	p.R872*			Q96QE4	LR37B_HUMAN			10	2675	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	845					Q17RC9|Q5YKG6	Nonsense_Mutation	SNP	ENST00000341671.7	37	c.2614C>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.578	0.881682	0.17467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.78	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1537	0.00096	0.3506:0.2442:0.1678:0.2374	.	.	.	.	X	763;872;794;845	.	ENSP00000332536:R872X	R	+	1	2	LRRC37B	27400383	0.005000	0.15991	0.006000	0.13384	0.000000	0.00434	0.839000	0.27586	-0.642000	0.05480	-2.596000	0.00163	CGA		0.438	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		70	294	0	0	0	1	0	70	294					T	30376270	C	T	30376270	4	4	79	1	0	0	0	0	0	1	0	0	9032	760	27	1	2571	1	LRRC37B	17	30376270	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13648	30376270	50818940	17154	27471											
RHBDL3	162494	broad.mit.edu	37	chr17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcaagctgctgcggatggCtgtggcccttatctgtagta	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000269051.4	+	8	940	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	309						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(925-927)gCt>gAt		rhomboid, veinlet-like 3 (Drosophila)							149	149	149					17																	30643294		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30643294C>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.926C>A	17.37:g.30643294C>A	ENSP00000269051:p.Ala309Asp					RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	p.A309D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			8	940	+		Breast(31;0.116)|Ovarian(249;0.182)	309					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.926C>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934735	0.73442	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	5.56	4.58	0.56647	Peptidase S54, rhomboid domain (1);	0.051784	0.85682	D	0.000000	T	0.18593	0.0446	M	0.62088	1.915	0.58432	D	0.999999	P;P	0.44380	0.834;0.834	B;B	0.44085	0.44;0.44	T	0.01105	-1.1450	10	0.62326	D	0.03	.	9.8851	0.41257	0.0:0.7871:0.1404:0.0724	.	301;309	Q495Y5;P58872	.;RHBL3_HUMAN	D	309;301;211	ENSP00000269051:A309D;ENSP00000442092:A301D;ENSP00000466508:A211D	ENSP00000269051:A309D	A	+	2	0	RHBDL3	27667407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.499000	0.53310	1.324000	0.45282	0.563000	0.77884	GCT		0.552	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		218	848	1	0	5.40457e-69	1	6.85597e-69	218	848					A	30643294	C	A	30643294	3	1	79	1	0	0	0	0	1	0	0	0	13373	797	28	3	956	3	RHBDL3	17	30643294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267024	30643294	50551916	17155	27472											
C17orf75	64149	broad.mit.edu	37	chr17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacgttcagagtctatcgTtactgtttcaggaagcagtt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	140										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358																																						ENST00000577809.1																			0				ovary(1)	1						c.(418-420)Acg>Gcg		chromosome 17 open reading frame 75							121	116	117					17																	30665300		1839	4100	5939	SO:0001583	missense	64149				spermatogenesis			g.chr17:30665300T>C	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.418A>G	17.37:g.30665300T>C	ENSP00000464275:p.Thr140Ala					C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A|RP11-227G15.3_ENST00000581915.1_RNA	p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	467	-		Breast(31;0.116)|Ovarian(249;0.182)	140					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.418A>G	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081745	0.07141	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.62	0.773	0.18516	.	0.406564	0.30003	N	0.010642	T	0.16257	0.0391	N	0.16478	0.41	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	9	0.14252	T	0.57	-13.093	4.9529	0.14023	0.124:0.2811:0.0:0.5949	.	140	Q9HAS0	NJMU_HUMAN	A	140	.	ENSP00000225805:T140A	T	-	1	0	C17orf75	27689413	0.404000	0.25328	0.386000	0.26170	0.003000	0.03518	0.321000	0.19558	0.085000	0.17107	-0.411000	0.06167	ACG		0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		51	462	0	0	0	1	0	51	462					C	30665300	T	C	30665300	3	2	79	1	0	0	0	0	1	0	0	0	1886	1725	60	4	800	4	C17orf75	17	30665300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22006	30665300	50529910	17156	27473											
C17orf75	64149	broad.mit.edu	37	chr17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagattagtatctgccaaggAgaggcttgacaaatgaaaga	11	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473																																						ENST00000577809.1																			0				ovary(1)	1						c.(226-228)Tcc>Ccc		chromosome 17 open reading frame 75							73	71	72					17																	30666953		1929	4153	6082	SO:0001583	missense	64149				spermatogenesis			g.chr17:30666953A>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.226T>C	17.37:g.30666953A>G	ENSP00000464275:p.Ser76Pro					C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P|RP11-227G15.3_ENST00000581915.1_RNA	p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	275	-		Breast(31;0.116)|Ovarian(249;0.182)	76					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.226T>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326033	0.41197	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.172475	0.51477	D	0.000084	T	0.77054	0.4074	M	0.61703	1.905	0.43879	D	0.996495	D	0.89917	1.0	D	0.85130	0.997	T	0.79662	-0.1710	9	0.87932	D	0	-4.6812	15.5785	0.76414	1.0:0.0:0.0:0.0	.	76	Q9HAS0	NJMU_HUMAN	P	76	.	ENSP00000225805:S76P	S	-	1	0	C17orf75	27691066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.206000	0.65192	2.080000	0.62538	0.528000	0.53228	TCC		0.473	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		57	193	0	0	0	1	0	57	193					G	30666953	A	G	30666953	3	3	79	1	0	0	0	0	1	0	0	0	1886	304	11	4	996	4	C17orf75	17	30666953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1653	30666953	50528257	17157	27474											
ZNF207	7756	broad.mit.edu	37	chr17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatgtcgcaaggtggccGttactgatcttacttcatcc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000321233.6	+	11	1584	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394670.4_Missense_Mutation_p.R493H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	477					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507																																						ENST00000394670.4																			1	Substitution - Missense(1)	p.R477L(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1477-1479)cGt>cAt		zinc finger protein 207							82	71	75					17																	30696771		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696771G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1430G>A	17.37:g.30696771G>A	ENSP00000322777:p.Arg477His					ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000321233.6_Missense_Mutation_p.R477H	p.R493H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1647	+		Breast(31;0.116)|Ovarian(249;0.182)	477					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1478G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848845	0.51164	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.53640	0.64;0.73;0.61	5.65	4.69	0.59074	.	.	.	.	.	T	0.49406	0.1555	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.58075	-0.7700	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	493;446;462;394;477	ENSP00000378165:R493H;ENSP00000322777:R462H;ENSP00000344913:R394H	ENSP00000322777:R462H	R	+	2	0	ZNF207	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT		0.507	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			33	221	0	0	0	1	0	33	221					A	30696771	G	A	30696771	3	1	79	1	0	0	0	0	1	0	0	0	17818	1145	40	1	1524	1	ZNF207	17	30696771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29818	30696771	50498439	17158	27475											
PSMD11	5717	broad.mit.edu	37	chr17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagatggacgacaaagCtcttttggtggaagtacagc	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(490-492)gCt>gAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							78	78	78					17																	30796059		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30796059C>A	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.491C>A	17.37:g.30796059C>A	ENSP00000261712:p.Ala164Asp					PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	754	+		Breast(31;0.159)|Ovarian(249;0.182)	164					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.491C>A	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261777	0.39995	.	.	ENSG00000108671	ENST00000261712	T	0.43294	0.95	5.65	5.65	0.86999	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.37507	1.11	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17098	0.017;0.003	T	0.10730	-1.0617	10	0.11485	T	0.65	-6.4445	17.2626	0.87075	0.0:1.0:0.0:0.0	.	164;164	B4DTS5;O00231	.;PSD11_HUMAN	D	164	ENSP00000261712:A164D	ENSP00000261712:A164D	A	+	2	0	PSMD11	27820172	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	2.941000	0.99782	0.655000	0.94253	GCT		0.448	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		65	313	1	0	1.93348e-29	1	2.25966e-29	65	313					A	30796059	C	A	30796059	3	1	79	1	0	0	0	0	1	0	0	0	12741	797	28	3	513	3	PSMD11	17	30796059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99288	30796059	50399151	17159	27476											
CDK5R1	8851	broad.mit.edu	37	chr17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccagtgagctgcttcGctgcctgggtgagtttctct	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677																																						ENST00000313401.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(457-459)cGc>cAc		cyclin-dependent kinase 5, regulatory subunit 1 (p35)							44	45	45					17																	30815096		2203	4300	6503	SO:0001583	missense	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815096G>A	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.458G>A	17.37:g.30815096G>A	ENSP00000318486:p.Arg153His						p.R153H	NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	1147	+		Breast(31;0.159)|Ovarian(249;0.182)	153					E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	c.458G>A	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817185	0.90790	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	D	0.89174	0.3539	10	0.87932	D	0	-21.4374	16.9953	0.86366	0.0:0.0:1.0:0.0	.	153	Q15078	CD5R1_HUMAN	H	153	ENSP00000318486:R153H	ENSP00000318486:R153H	R	+	2	0	CDK5R1	27839209	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.556000	0.73932	2.609000	0.88269	0.557000	0.71058	CGC		0.677	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		84	288	0	0	0	1	0	84	288					A	30815096	G	A	30815096	3	1	79	1	0	0	0	0	1	0	0	0	3152	1087	38	1	460	1	CDK5R1	17	30815096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19037	30815096	50380114	17160	27477											
MYO1D	4642	broad.mit.edu	37	chr17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatgtatttgtccttccGtttcaattcattagcaacag	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000318217.5	-	19	2852	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	850	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGTCCTTCCGTTTCAATTCA	0.413																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2548-2550)Cgg>Tgg		myosin ID							131	106	115					17																	30980908		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30980908G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2548C>T	17.37:g.30980908G>A	ENSP00000324527:p.Arg850Trp					MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|RP11-220C2.1_ENST00000582272.1_RNA	p.R850W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		19	2852	-			850					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2548C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010813	0.75046	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	D	0.87650	-2.28	5.89	4.9	0.64082	Myosin tail 2 (1);	0.000000	0.36740	U	0.002433	D	0.90089	0.6904	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.932	D	0.90562	0.4516	10	0.72032	D	0.01	.	11.8626	0.52476	0.0:0.0:0.6823:0.3176	.	761;850	Q7Z3N6;O94832	.;MYO1D_HUMAN	W	850;42	ENSP00000324527:R850W	ENSP00000324527:R850W	R	-	1	2	MYO1D	28005021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.298000	0.43602	1.454000	0.47793	0.591000	0.81541	CGG		0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			35	128	0	0	0	1	0	35	128					A	30980908	G	A	30980908	3	1	79	1	0	0	0	0	1	0	0	0	10112	1144	40	1	488	1	MYO1D	17	30980908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165812	30980908	50214302	17161	27478											
MYO1D	4642	broad.mit.edu	37	chr17	31082531	31082531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggctggaaaaatgggcGtgtttgcccaatttactgtt	11	7	0	0	rs189288278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000318217.5	-	11	1750	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_ENST00000579584.1_Silent_p.H482H|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	482	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAAATGGGCGTGTTTGCCCA	0.393													G|||	12	0.00239617	0.0	0.0	5008	,	,		20686	0.0119		0.0	False		,,,				2504	0.0					ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1444-1446)caC>caT		myosin ID							126	113	117					17																	31082531		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082531G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1446C>T	17.37:g.31082531G>A						MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000579584.1_Silent_p.H482H	p.H482H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1750	-			482			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.1446C>T	CCDS32615.1																																																																																				0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			58	296	0	0	0	1	0	58	296					A	31082531	G	A	31082531	2	1	79	1	0	0	0	0	0	0	0	1	10112	1136	40	1		1	MYO1D	17	31082531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101623	31082531	50112679	17162	27479											
TMEM98	26022	broad.mit.edu	37	chr17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagatgaagacttcagCcagtgtcagcgacatcattg	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(367-369)gCc>gTc		transmembrane protein 98							119	106	110					17																	31263420		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31263420C>T	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.368C>T	17.37:g.31263420C>T	ENSP00000463245:p.Ala123Val					TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V|TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V	p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		6	799	+		Ovarian(249;0.182)|Breast(31;0.244)	123					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.368C>T	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364878	0.82463	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.51325	0.71;0.87;0.88;0.71	5.47	5.47	0.80525	.	0.056029	0.64402	D	0.000001	T	0.40595	0.1123	L	0.29908	0.895	0.46167	D	0.998907	B	0.31413	0.322	B	0.31245	0.126	T	0.17258	-1.0375	10	0.54805	T	0.06	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	123	Q9Y2Y6	TMM98_HUMAN	V	123	ENSP00000378138:A123V;ENSP00000261713:A123V;ENSP00000398446:A123V;ENSP00000406394:A123V	ENSP00000261713:A123V	A	+	2	0	TMEM98	28287533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	1.081000	0.41110	0.655000	0.94253	GCC		0.572	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		57	294	0	0	0	1	0	57	294					T	31263420	C	T	31263420	3	4	79	1	0	0	0	0	1	0	0	0	16277	739	26	2	382	2	TMEM98	17	31263420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180889	31263420	49931790	17163	27480											
TMEM98	26022	broad.mit.edu	37	chr17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccccaaactcctggacGcacggtgagaccaggggtgg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(469-471)Gca>Aca		transmembrane protein 98							142	114	123					17																	31266550		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31266550G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.469G>A	17.37:g.31266550G>A	ENSP00000463245:p.Ala157Thr					TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T|TMEM98_ENST00000578289.1_Intron	p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		7	900	+		Ovarian(249;0.182)|Breast(31;0.244)	157					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.469G>A	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301065	0.95601	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55927	-0.8063	10	0.46703	T	0.11	-24.2618	17.7902	0.88550	0.0:0.0:1.0:0.0	.	157	Q9Y2Y6	TMM98_HUMAN	T	157	ENSP00000378138:A157T;ENSP00000406394:A157T	ENSP00000261713:A157T	A	+	1	0	TMEM98	28290663	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.097000	0.94193	2.813000	0.96785	0.655000	0.94253	GCA		0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		46	212	0	0	0	1	0	46	212					A	31266550	G	A	31266550	3	1	79	1	0	0	0	0	1	0	0	0	16277	1087	38	1	487	1	TMEM98	17	31266550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3130	31266550	49928660	17164	27481											
SPACA3	124912	broad.mit.edu	37	chr17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgacttcgggctggacGgataccggggatacagcctg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000269053.3	+	2	386	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G37R|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(109-111)Gga>Aga		sperm acrosome associated 3							92	61	71					17																	31322708		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322708G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.316G>A	17.37:g.31322708G>A	ENSP00000269053:p.Gly106Arg					SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.G106R|SPACA3_ENST00000394637.2_3'UTR	p.G37R			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		3	518	+			106					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.109G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.266508	0.59540	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71817	-0.6	3.94	3.94	0.45596	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79240	0.4412	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80752	-0.1242	10	0.87932	D	0	-9.2107	11.7831	0.52026	0.0:0.0:1.0:0.0	.	106	Q8IXA5	SACA3_HUMAN	R	106;107	ENSP00000269053:G106R	ENSP00000269053:G106R	G	+	1	0	SPACA3	28346821	1.000000	0.71417	0.440000	0.26846	0.640000	0.38277	4.350000	0.59392	2.510000	0.84645	0.443000	0.29094	GGA		0.622	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		28	156	0	0	0	1	0	28	156					A	31322708	G	A	31322708	3	1	79	1	0	0	0	0	1	0	0	0	15023	1117	39	1	322	1	SPACA3	17	31322708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56158	31322708	49872502	17165	27482											
ACCN1	40	broad.mit.edu	37	chr17	32483180	32483180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagccagatgggggtcCgggatctgcaggttgacatc	17	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597																																						ENST00000359872.6																			0											c.(370-372)ccG>ccA		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						81	92	88					17																	32483180		2161	4264	6425	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483180C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T							p.P124P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1133	-			124					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.372G>A	CCDS42296.1																																																																																				0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		56	451	0	0	0	1	0	56	451					T	32483180	C	T	32483180	2	4	79	1	0	0	0	0	0	0	0	1	128	639	23	1		1	ACCN1	17	32483180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1160472	32483180	48712030	17166	27483											
ACCN1	40	broad.mit.edu	37	chr17	32483386	32483386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagctctccaccagcaGcaggcccagagagcccacga	10	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483386G>T	ENST00000359872.6	-	1	927	c.166C>A	c.(166-168)Ctg>Atg	p.L56M		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	56					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TCCACCAGCAGCAGGCCCAGA	0.607																																						ENST00000359872.6																			0											c.(166-168)Ctg>Atg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						48	53	52					17																	32483386		2198	4297	6495	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483386G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.166C>A	17.37:g.32483386G>T	ENSP00000352934:p.Leu56Met						p.L56M	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	927	-			56					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.166C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279592	0.59758	.	.	ENSG00000108684	ENST00000359872	T	0.66280	-0.2	4.96	4.96	0.65561	.	.	.	.	.	T	0.75413	0.3846	M	0.65975	2.015	0.54753	D	0.999982	D	0.76494	0.999	D	0.74348	0.983	T	0.71563	-0.4555	9	0.24483	T	0.36	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	56	Q16515	ACCN1_HUMAN	M	56	ENSP00000352934:L56M	ENSP00000352934:L56M	L	-	1	2	ACCN1	29507499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.559000	0.86315	0.655000	0.94253	CTG		0.607	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		6	271	1	0	0.0215528	1	0.0216335	6	271					T	32483386	G	T	32483386	3	4	79	1	0	0	0	0	1	0	0	0	128	962	34	3	2124	3	ACCN1	17	32483386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	32483386	48711824	17167	27484											
CCL1	6346	broad.mit.edu	37	chr17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccaactgtgtccaaggCgcaggcctctttgcctctct	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522																																						ENST00000225842.3																			0											c.(220-222)Gcc>Acc		chemokine (C-C motif) ligand 1							115	109	111					17																	32687649		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32687649C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"Endogenous ligands"	10609	protein-coding gene	gene with protein product	"inflammatory cytokine I-309", "T lymphocyte-secreted protein I-309"	182281	"small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	17.37:g.32687649C>T	ENSP00000225842:p.Ala74Thr						p.A74T	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	3	289	-		Ovarian(249;0.0443)|Breast(31;0.133)	74					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.220G>A	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC		0.522	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		112	504	0	0	0	1	0	112	504					T	32687649	C	T	32687649	3	4	79	1	0	0	0	0	1	0	0	0	2889	768	27	1	74	1	CCL1	17	32687649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204263	32687649	48507561	17168	27485											
CCL1	6346	broad.mit.edu	37	chr17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccacactcactgctcttgCtgtccacatcttccggccac	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	23					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572																																						ENST00000225842.3																			0											c.(67-69)aGc>aTc		chemokine (C-C motif) ligand 1							148	105	120					17																	32690113		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32690113C>A	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"Endogenous ligands"	10609	protein-coding gene	gene with protein product	"inflammatory cytokine I-309", "T lymphocyte-secreted protein I-309"	182281	"small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.68G>T	17.37:g.32690113C>A	ENSP00000225842:p.Ser23Ile						p.S23I	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	1	137	-		Ovarian(249;0.0443)|Breast(31;0.133)	23					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.68G>T	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776681	0.31411	.	.	ENSG00000108702	ENST00000225842	T	0.03413	3.94	4.42	2.41	0.29592	Chemokine interleukin-8-like domain (1);	0.529029	0.20041	N	0.100511	T	0.05640	0.0148	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.49226	0.603	T	0.29336	-1.0015	9	0.48119	T	0.1	-6.2234	6.3335	0.21282	0.0:0.6976:0.202:0.1004	.	23	P22362	CCL1_HUMAN	I	23	ENSP00000225842:S23I	ENSP00000225842:S23I	S	-	2	0	CCL1	29714226	0.008000	0.16893	0.000000	0.03702	0.022000	0.10575	0.558000	0.23469	0.802000	0.34089	0.644000	0.83932	AGC		0.572	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		48	194	1	0	4.10826e-27	1	4.75084e-27	48	194					A	32690113	C	A	32690113	3	1	79	1	0	0	0	0	1	0	0	0	2889	797	28	3	234	3	CCL1	17	32690113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2464	32690113	48505097	17169	27486											
C17orf102	400591	broad.mit.edu	37	chr17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgagccccagagcccCcgcggcccgagaggagctgg	16	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	98			G -> R (in dbSNP:rs58529418). {ECO:0000269|PubMed:14702039}.							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(292-294)gGg>gAg		chromosome 17 open reading frame 102							45	52	50					17																	32906007		1864	4091	5955	SO:0001583	missense	400591							g.chr17:32906007C>T		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.293G>A	17.37:g.32906007C>T	ENSP00000350392:p.Gly98Glu						p.G98E	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	381	-			98		G -> R (in dbSNP:rs58529418).			A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.293G>A	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744526	0.30865	.	.	ENSG00000197322	ENST00000357754	T	0.46063	0.88	3.33	2.3	0.28687	.	1.147840	0.06879	U	0.802091	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.40572	-0.9556	10	0.87932	D	0	.	8.3172	0.32108	0.0:0.755:0.2449:0.0	.	98	A2RUQ5	CQ102_HUMAN	E	98	ENSP00000350392:G98E	ENSP00000350392:G98E	G	-	2	0	C17orf102	29930120	0.020000	0.18652	0.000000	0.03702	0.019000	0.09904	0.831000	0.27476	0.663000	0.31027	0.655000	0.94253	GGG		0.672	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		160	590	0	0	0	1	0	160	590					T	32906007	C	T	32906007	3	4	79	1	0	0	0	0	1	0	0	0	1854	623	22	2	218	2	C17orf102	17	32906007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215894	32906007	48289203	17170	27487											
TMEM132E	124842	broad.mit.edu	37	chr17	32956037	32956037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccctggcagggagggCcagggccccttggagatctt	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	294						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAGGGAGGGCCAGGGCCCCT	0.612																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(880-882)ggC>ggT		transmembrane protein 132E							69	73	72					17																	32956037		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32956037C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.882C>T	17.37:g.32956037C>T							p.G294G	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1210	+			294					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.882C>T	CCDS11283.1																																																																																				0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		39	594	0	0	0	1	0	39	594					T	32956037	C	T	32956037	2	4	79	1	0	0	0	0	0	0	0	1	16100	726	26	2		2	TMEM132E	17	32956037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50030	32956037	48239173	17171	27488											
TMEM132E	124842	broad.mit.edu	37	chr17	32965106	32965106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgtcagaggagctggCctatgactcggtgcccgcgg	16	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	ENST00000321639.5	+	10	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	937						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGAGCTGGCCTATGACTCG	0.697																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2809-2811)gCc>gTc		transmembrane protein 132E							10	12	12					17																	32965106		2195	4277	6472	SO:0001583	missense	124842					integral to membrane		g.chr17:32965106C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2810C>T	17.37:g.32965106C>T	ENSP00000316532:p.Ala937Val						p.A937V	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	3138	+			937					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2810C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558345	0.45590	.	.	ENSG00000181291	ENST00000321639	T	0.06142	3.34	4.89	4.89	0.63831	.	0.117206	0.64402	D	0.000020	T	0.05502	0.0145	L	0.27053	0.805	0.40800	D	0.983337	B	0.23891	0.093	B	0.19666	0.026	T	0.32745	-0.9895	10	0.48119	T	0.1	-33.8477	10.7548	0.46230	0.0:0.9136:0.0:0.0864	.	937	Q6IEE7	T132E_HUMAN	V	937	ENSP00000316532:A937V	ENSP00000316532:A937V	A	+	2	0	TMEM132E	29989219	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.877000	0.48506	2.552000	0.86080	0.643000	0.83706	GCC		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		10	60	0	0	0	1	0	10	60					T	32965106	C	T	32965106	3	4	79	1	0	0	0	0	1	0	0	0	16100	739	26	2	2848	2	TMEM132E	17	32965106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9069	32965106	48230104	17172	27489											
RFFL	117584	broad.mit.edu	37	chr17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggggaacagaggtgGcttgtgcagatgaagagggg	22	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACAGAGGTGGCTTGTGCAGA	0.552																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(550-552)gCc>gTc		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							70	63	65					17																	33348430		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348430G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.551C>T	17.37:g.33348430G>A	ENSP00000326170:p.Ala184Val					RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V	p.A184V			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	773	-		Ovarian(249;0.17)	184						Missense_Mutation	SNP	ENST00000315249.7	37	c.551C>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033387	0.19590	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46063	0.88;0.88;0.89;0.94;0.89;0.88	5.29	4.32	0.51571	.	0.493756	0.19078	N	0.123321	T	0.22322	0.0538	N	0.05230	-0.09	0.24595	N	0.993809	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.002;0.004	T	0.13255	-1.0516	10	0.23302	T	0.38	-7.8595	12.2476	0.54578	0.0825:0.0:0.9175:0.0	.	184;184;184;184	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	V	184	ENSP00000326170:A184V;ENSP00000378096:A184V;ENSP00000367777:A184V;ENSP00000268850:A184V;ENSP00000408513:A184V;ENSP00000412322:A184V	ENSP00000268850:A184V	A	-	2	0	RFFL	30372543	0.986000	0.35501	0.726000	0.30738	0.232000	0.25224	3.985000	0.56930	1.440000	0.47531	0.655000	0.94253	GCC		0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		37	162	0	0	0	1	0	37	162					A	33348430	G	A	33348430	3	1	79	1	0	0	0	0	1	0	0	0	13300	1203	42	2	560	2	RFFL	17	33348430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383324	33348430	47846780	17173	27490											
RFFL	117584	broad.mit.edu	37	chr17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtggaggcacgagtcCtgtcctcctgggagattaca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGCACGAGTCCTGTCCTCCTG	0.582																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(433-435)aGg>aAg		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							81	66	71					17																	33348547		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348547C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.434G>A	17.37:g.33348547C>T	ENSP00000326170:p.Arg145Lys					RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K	p.R145K			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	656	-		Ovarian(249;0.17)	145						Missense_Mutation	SNP	ENST00000315249.7	37	c.434G>A	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	9.551	1.115960	0.20795	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.98;0.97;0.97	5.65	4.68	0.58851	.	0.406087	0.30201	N	0.010166	T	0.30634	0.0771	L	0.42245	1.32	0.30764	N	0.743764	P;P;B;B	0.43287	0.802;0.627;0.323;0.225	B;B;B;B	0.40677	0.337;0.295;0.079;0.114	T	0.18871	-1.0323	10	0.06099	T	0.92	-22.2961	10.0295	0.42092	0.0:0.8343:0.0:0.1657	.	145;145;145;145	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	K	145	ENSP00000326170:R145K;ENSP00000378096:R145K;ENSP00000367777:R145K;ENSP00000268850:R145K;ENSP00000408513:R145K;ENSP00000412322:R145K	ENSP00000268850:R145K	R	-	2	0	RFFL	30372660	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.146000	0.50631	1.630000	0.50440	0.655000	0.94253	AGG		0.582	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		44	147	0	0	0	1	0	44	147					T	33348547	C	T	33348547	3	4	79	1	0	0	0	0	1	0	0	0	13300	681	24	2	677	2	RFFL	17	33348547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	33348547	47846663	17174	27491											
RAD51L3	5892	broad.mit.edu	37	chr17	33434103	33434103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatataggacgttttgctgCaggccatgggccacatttgc	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33434103C>T	ENST00000345365.6	-	5	639	c.384G>A	c.(382-384)ctG>ctA	p.L128L	RAD51D_ENST00000394589.4_Silent_p.L128L|RAD51D_ENST00000590016.1_Silent_p.L148L|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000460118.2_Silent_p.L9L|RAD51D_ENST00000335858.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	128					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGTTTTGCTGCAGGCCATGGG	0.547								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(382-384)ctG>ctA	Direct reversal of damage	RAD51 paralog D							96	90	92					17																	33434103		2203	4300	6503	SO:0001819	synonymous_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33434103C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"recombination repair protein", "DNA repair protein RAD51 homolog 4"	602954	"RAD51 (S. cerevisiae)-like 3", "RAD51-like 3 (S. cerevisiae)", "RAD51 homolog D (S. cerevisiae)"	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.384G>A	17.37:g.33434103C>T						RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000460118.2_Silent_p.L9L|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000590016.1_Silent_p.L148L|RAD51D_ENST00000394589.4_Silent_p.L128L	p.L128L	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			5	639	-			128					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	c.384G>A	CCDS11287.1																																																																																				0.547	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		82	407	0	0	0	1	0	82	407					T	33434103	C	T	33434103	2	4	79	1	0	0	0	0	0	0	0	1	13040	697	25	2		2	RAD51L3	17	33434103	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85556	33434103	47761107	17175	27492											
FNDC8	54752	broad.mit.edu	37	chr17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgaagtcccagatggccAcaaggggcctgctggacctt	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	150						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582																																						ENST00000158009.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11						c.(448-450)Aca>Gca		fibronectin type III domain containing 8							107	113	111					17																	33454299		2203	4300	6503	SO:0001583	missense	54752							g.chr17:33454299A>G	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.448A>G	17.37:g.33454299A>G	ENSP00000158009:p.Thr150Ala						p.T150A	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	563	+		Ovarian(249;0.17)	150					B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	c.448A>G	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	A	1.870	-0.460518	0.04508	.	.	ENSG00000073598	ENST00000158009	T	0.30448	1.53	4.52	1.11	0.20524	.	0.409067	0.21308	N	0.076696	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.16364	-1.0405	10	0.30078	T	0.28	-2.735	5.5119	0.16886	0.4787:0.4225:0.0:0.0988	.	150	Q8TC99	FNDC8_HUMAN	A	150	ENSP00000158009:T150A	ENSP00000158009:T150A	T	+	1	0	FNDC8	30478412	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.113000	0.15499	0.256000	0.21614	-0.213000	0.12676	ACA		0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		163	851	0	0	0	1	0	163	851					G	33454299	A	G	33454299	3	3	79	1	0	0	0	0	1	0	0	0	5999	159	6	4	454	4	FNDC8	17	33454299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20196	33454299	47740911	17176	27493											
NLE1	54475	broad.mit.edu	37	chr17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcacacactcacccgcaCgaggttgtatcggctcagag	11	14	2	1	rs187705654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000442241.4	-	9	1045	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	NLE1_ENST00000360831.5_Missense_Mutation_p.V294M|NLE1_ENST00000586869.1_Missense_Mutation_p.V44M|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17561	0.001		0.0	False		,,,				2504	0.0					ENST00000586869.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(130-132)Gtg>Atg		notchless homolog 1 (Drosophila)							168	171	170					17																	33463193		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33463193C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1006G>A	17.37:g.33463193C>T	ENSP00000413572:p.Val336Met					NLE1_ENST00000442241.4_Missense_Mutation_p.V336M|NLE1_ENST00000360831.5_Missense_Mutation_p.V294M	p.V44M			Q9NVX2	NLE1_HUMAN			8	1149	-		Ovarian(249;0.17)	336					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.130G>A	CCDS11291.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.63	2.293743	0.40594	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.60171	0.21	5.1	3.0	0.34707	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114208	0.64402	N	0.000016	T	0.58623	0.2135	L	0.43152	1.355	0.40738	D	0.982804	D;P	0.60575	0.988;0.904	P;P	0.59357	0.856;0.543	T	0.57277	-0.7839	10	0.37606	T	0.19	-17.8702	6.5262	0.22303	0.0:0.7806:0.0:0.2194	.	312;336	B4E074;Q9NVX2	.;NLE1_HUMAN	M	336;44;312	ENSP00000413572:V336M	ENSP00000354075:V44M	V	-	1	0	NLE1	30487306	0.996000	0.38824	0.182000	0.23118	0.185000	0.23345	3.248000	0.51430	1.396000	0.46663	-0.222000	0.12452	GTG		0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		230	1162	0	0	0	1	0	230	1162					T	33463193	C	T	33463193	3	4	79	1	0	0	0	0	1	0	0	0	10502	536	19	1	471	1	NLE1	17	33463193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8894	33463193	47732017	17177	27494											
NLE1	54475	broad.mit.edu	37	chr17	33464116	33464116	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaccgactgggtgtgCccggtgaggatgcgctcaca	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33464116C>A	ENST00000442241.4	-	7	771	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NLE1_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	244					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTGGGTGTGCCCGGTGAGGA	0.627																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(730-732)ggG>ggT		notchless homolog 1 (Drosophila)							77	72	74					17																	33464116		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33464116C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.732G>T	17.37:g.33464116C>A						NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.G202G	p.G244G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			7	771	-		Ovarian(249;0.17)	244					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.732G>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235133	0.22626	.	.	ENSG00000073536	ENST00000436188	.	.	.	4.6	-1.56	0.08532	.	0.051829	0.85682	D	0.000000	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55798	-0.8084	6	0.87932	D	0	-24.1017	5.3062	0.15805	0.0:0.3098:0.1577:0.5325	.	.	.	.	V	24	.	ENSP00000416023:G24V	G	-	2	0	NLE1	30488229	0.059000	0.20769	0.992000	0.48379	0.991000	0.79684	-0.790000	0.04604	-0.084000	0.12595	-0.345000	0.07892	GGC		0.627	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		10	409	1	0	7.48243e-07	1	7.73841e-07	10	409					A	33464116	C	A	33464116	2	1	79	1	0	0	0	0	0	0	0	1	10502	726	26	3		3	NLE1	17	33464116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	923	33464116	47731094	17178	27495											
NLE1	54475	broad.mit.edu	37	chr17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggactccaacgtcttcCccagtgaggagacgatctca	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	74					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(220-222)gGg>gTg		notchless homolog 1 (Drosophila)							98	80	86					17																	33467027		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33467027C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.221G>T	17.37:g.33467027C>A	ENSP00000413572:p.Gly74Val					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.G74V	p.G74V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			3	260	-		Ovarian(249;0.17)	74					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.221G>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010051	0.19277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	5.22	-0.569	0.11756	NLE (1);	0.558737	0.20980	N	0.082221	T	0.35970	0.0950	L	0.41492	1.28	0.58432	D	0.999992	B	0.24043	0.096	B	0.31390	0.129	T	0.04565	-1.0942	10	0.17369	T	0.5	-12.3469	4.3035	0.10935	0.0:0.3614:0.1731:0.4654	.	74	Q9NVX2	NLE1_HUMAN	V	74	ENSP00000413572:G74V	ENSP00000413572:G74V	G	-	2	0	NLE1	30491140	0.976000	0.34144	0.995000	0.50966	0.700000	0.40528	0.986000	0.29590	0.075000	0.16796	-0.145000	0.13849	GGG		0.547	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		33	174	1	0	3.6622e-26	1	4.21603e-26	33	174					A	33467027	C	A	33467027	3	1	79	1	0	0	0	0	1	0	0	0	10502	623	22	3	1280	3	NLE1	17	33467027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2911	33467027	47728183	17179	27496											
UNC45B	146862	broad.mit.edu	37	chr17	33495095	33495095	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggggcaagtttgacccCcaggacatggacaagaactt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495095C>A	ENST00000268876.5	+	10	1264	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P|UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000378449.1_Silent_p.P389P|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	389					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				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)				AGTTTGACCCCCAGGACATGG	0.517																																						ENST00000268876.5																			0				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						c.(1165-1167)ccC>ccA		unc-45 homolog B (C. elegans)							66	60	62					17																	33495095		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495095C>A	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.1167C>A	17.37:g.33495095C>A						UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000378449.1_Silent_p.P389P|UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P	p.P389P	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1264	+		Ovarian(249;0.17)	389					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1167C>A	CCDS11292.1																																																																																				0.517	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		37	198	1	0	1.04594e-18	1	1.16214e-18	37	198					A	33495095	C	A	33495095	2	1	79	1	0	0	0	0	0	0	0	1	17043	610	22	3		3	UNC45B	17	33495095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28068	33495095	47700115	17180	27497											
UNC45B	146862	broad.mit.edu	37	chr17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgacctgggcaaccaGctgctgggactgaaaggtgt	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	415					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				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)				TGGGCAACCAGCTGCTGGGAC	0.582																																						ENST00000268876.5																			0				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						c.(1243-1245)caG>caT		unc-45 homolog B (C. elegans)							110	86	94					17																	33495173		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495173G>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.1245G>T	17.37:g.33495173G>T	ENSP00000268876:p.Gln415His					UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H	p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1342	+		Ovarian(249;0.17)	415					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1245G>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996034	0.54147	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	1.5;3.48;1.5;0.83	5.02	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.241992	0.43260	D	0.000585	T	0.41604	0.1166	N	0.14661	0.345	0.37898	D	0.930937	D;P;B	0.61080	0.989;0.701;0.314	P;B;P	0.58820	0.846;0.435;0.447	T	0.40534	-0.9558	10	0.42905	T	0.14	-31.7403	8.7666	0.34706	0.2965:0.0:0.7035:0.0	.	415;415;415	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	415	ENSP00000378071:Q415H;ENSP00000268876:Q415H;ENSP00000412840:Q415H;ENSP00000367710:Q415H	ENSP00000268876:Q415H	Q	+	3	2	UNC45B	30519286	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	1.293000	0.33353	0.834000	0.34852	-0.766000	0.03442	CAG		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		39	203	1	0	3.38236e-24	1	3.86174e-24	39	203					T	33495173	G	T	33495173	3	4	79	1	0	0	0	0	1	0	0	0	17043	962	34	3	1279	3	UNC45B	17	33495173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	33495173	47700037	17181	27498											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33520392G>A	ENST00000297307.5	-	1	1020	c.935C>T	c.(934-936)gCg>gTg	p.A312V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gTg		solute carrier family 35, member G3		C	VAL/ALA	2,4404		0,2,2201	142	127	132		935		0	17		132	0,8600		0,0,4300	no	missense	SLC35G3	NM_152462.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	312/339	33520392	2,13004	2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>T	17.37:g.33520392G>A	ENSP00000297307:p.Ala312Val						p.A312V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100775	0.56183	4.54E-4	0.0	ENSG00000164729	ENST00000297307	T	0.72394	-0.65	.	.	.	.	0.000000	0.45126	D	0.000398	T	0.38268	0.1034	N	0.08118	0	0.18873	N	0.999987	B	0.18968	0.032	B	0.22601	0.04	T	0.17501	-1.0367	8	0.87932	D	0	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	V	312	ENSP00000297307:A312V	ENSP00000297307:A312V	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		123	576	0	0	0	1	0	123	576					A	33520392	G	A	33520392	3	1	79	1	0	0	0	0	1	0	0	0	559	1087	38	1	85	1	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25219	33520392	47674818	17182	27499											
AMAC1	146861	broad.mit.edu	37	chr17	33521164	33521164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatacgagaaagggggcCcacgaagccagcaggcaggc	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33521164C>A	ENST00000297307.5	-	1	248	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	55	EamA 1.					integral component of membrane (GO:0016021)											GAAAGGGGGCCCACGAAGCCA	0.647																																						ENST00000297307.5																			0											c.(163-165)Ggc>Tgc		solute carrier family 35, member G3							62	67	66					17																	33521164		2203	4296	6499	SO:0001583	missense	146861					integral to membrane		g.chr17:33521164C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.163G>T	17.37:g.33521164C>A	ENSP00000297307:p.Gly55Cys						p.G55C	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	248	-			55			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.163G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543684	0.27563	.	.	ENSG00000164729	ENST00000297307	T	0.53640	0.61	.	.	.	.	0.000000	0.45867	D	0.000338	T	0.47078	0.1426	N	0.24115	0.695	0.33035	D	0.530731	D	0.89917	1.0	D	0.97110	1.0	T	0.55592	-0.8117	9	0.72032	D	0.01	-6.949	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	55	Q8N808	S35G3_HUMAN	C	55	ENSP00000297307:G55C	ENSP00000297307:G55C	G	-	1	0	SLC35G3	30545277	1.000000	0.71417	0.402000	0.26371	0.404000	0.30871	1.946000	0.40283	0.064000	0.16427	0.064000	0.15345	GGC		0.647	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		108	473	1	0	9.42799e-54	1	1.17567e-53	108	473					A	33521164	C	A	33521164	3	1	79	1	0	0	0	0	1	0	0	0	559	623	22	3	857	3	AMAC1	17	33521164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	772	33521164	47674046	17183	27500											
SLFN5	162394	broad.mit.edu	37	chr17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttctaatttcccagaAcaacacccctattctctaca	2	15	3	1	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000299977.4	+	4	1488	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	447					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1339-1341)aAc>aCc		schlafen family member 5							122	118	119					17																	33591403		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591403A>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1340A>C	17.37:g.33591403A>C	ENSP00000299977:p.Asn447Thr					SLFN5_ENST00000542451.1_Intron	p.N447T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1488	+		Ovarian(249;0.17)	447					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1340A>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.926981	0.34002	.	.	ENSG00000166750	ENST00000299977	T	0.02369	4.32	3.46	3.46	0.39613	.	0.332867	0.21783	N	0.069164	T	0.05318	0.0141	M	0.78049	2.395	0.25796	N	0.984569	P	0.37781	0.608	B	0.36534	0.227	T	0.15578	-1.0432	10	0.87932	D	0	.	8.5002	0.33152	1.0:0.0:0.0:0.0	.	447	Q08AF3	SLFN5_HUMAN	T	447	ENSP00000299977:N447T	ENSP00000299977:N447T	N	+	2	0	SLFN5	30615516	0.000000	0.05858	0.049000	0.19019	0.978000	0.69477	0.471000	0.22100	1.579000	0.49836	0.533000	0.62120	AAC		0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		80	351	0	0	0	1	0	80	351					C	33591403	A	C	33591403	3	2	79	1	0	0	0	0	1	0	0	0	14787	43	2	4	1350	4	SLFN5	17	33591403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70239	33591403	47603807	17184	27501											
SLFN5	162394	broad.mit.edu	37	chr17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaacagcaatgaGgaagagaaaactgtctcagc	10	9	2	2	rs370593067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000299977.4	+	5	2583	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	812					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(2434-2436)aGg>aTg		schlafen family member 5							97	88	91					17																	33592666		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592666G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2435G>T	17.37:g.33592666G>T	ENSP00000299977:p.Arg812Met					SLFN5_ENST00000542451.1_3'UTR	p.R812M	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2583	+		Ovarian(249;0.17)	812					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2435G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.635308	0.47049	.	.	ENSG00000166750	ENST00000299977	D	0.82893	-1.66	3.14	1.11	0.20524	.	0.367861	0.19839	N	0.104889	D	0.86447	0.5935	M	0.71206	2.165	0.54753	D	0.999986	D	0.89917	1.0	D	0.65987	0.94	D	0.84056	0.0372	10	0.87932	D	0	.	4.8998	0.13769	0.2928:0.0:0.7072:0.0	.	812	Q08AF3	SLFN5_HUMAN	M	812	ENSP00000299977:R812M	ENSP00000299977:R812M	R	+	2	0	SLFN5	30616779	0.283000	0.24277	0.835000	0.33067	0.094000	0.18550	0.297000	0.19101	0.651000	0.30788	-0.126000	0.14955	AGG		0.433	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		56	325	1	0	1.67886e-27	1	1.94484e-27	56	325					T	33592666	G	T	33592666	3	4	79	1	0	0	0	0	1	0	0	0	14787	1000	35	3	2449	3	SLFN5	17	33592666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1263	33592666	47602544	17185	27502											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806674	33806674	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttgtacatcaacacaGgccctttttgcagggaattc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33806674G>T	ENST00000260908.7	-	2	672	c.555C>A	c.(553-555)gcC>gcA	p.A185A	SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	185						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCAACACAGGCCCTTTTTG	0.388																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(553-555)gcC>gcA		schlafen family member 12-like							71	54	59					17																	33806674		692	1591	2283	SO:0001819	synonymous_variant	100506736					integral to membrane	ATP binding	g.chr17:33806674G>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.555C>A	17.37:g.33806674G>T						SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A	p.A185A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			2	672	-			217					F5H6G3	Silent	SNP	ENST00000260908.7	37	c.555C>A	CCDS56026.1																																																																																				0.388	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		23	111	1	0	1.50039e-11	1	1.60151e-11	23	111					T	33806674	G	T	33806674	2	4	79	1	0	0	0	0	0	0	0	1	14785	987	35	3		3	SLFN12L	17	33806674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214008	33806674	47388536	17186	27503											
PEX12	5193	broad.mit.edu	37	chr17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaccaggaacataatagAtttccaaagctgctgctttg	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	116					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACATAATAGATTTCCAAAGC	0.433																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(346-348)Tct>Cct		peroxisomal biogenesis factor 12							116	131	126					17																	33904391		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904391A>G	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.346T>C	17.37:g.33904391A>G	ENSP00000225873:p.Ser116Pro						p.S116P	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	953	-			116					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.346T>C	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629455	0.87660	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93810	0.7109	10	0.59425	D	0.04	-11.9731	14.7232	0.69323	1.0:0.0:0.0:0.0	.	116	O00623	PEX12_HUMAN	P	116	ENSP00000225873:S116P	ENSP00000225873:S116P	S	-	1	0	PEX12	30928504	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.504000	0.90512	2.077000	0.62373	0.528000	0.53228	TCT		0.433	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		47	1032	0	0	0	1	0	47	1032					G	33904391	A	G	33904391	3	3	79	1	0	0	0	0	1	0	0	0	11782	333	12	4	741	4	PEX12	17	33904391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	97717	33904391	47290819	17187	27504											
AP2B1	163	broad.mit.edu	37	chr17	34001297	34001297	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacttcaccaataaagctCtgcagcacatgacagatttt	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34001297C>T	ENST00000262325.7	+	16	2792	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000312678.8_Silent_p.L761L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	747					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATAAAGCTCTGCAGCACAT	0.433																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2239-2241)Ctg>Ttg		adaptor-related protein complex 2, beta 1 subunit							125	119	121					17																	34001297		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34001297C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2239C>T	17.37:g.34001297C>T						AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000545922.2_3'UTR	p.L747L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	16	2792	+		Ovarian(249;0.17)	747					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2239C>T	CCDS32622.1																																																																																				0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			9	633	0	0	0	1	0	9	633					T	34001297	C	T	34001297	2	4	79	1	0	0	0	0	0	0	0	1	741	912	32	2		2	AP2B1	17	34001297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96906	34001297	47193913	17188	27505											
AP2B1	163	broad.mit.edu	37	chr17	34044364	34044364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaggaaaccccaattAcacggtaaggcctttctcag	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34044364A>G	ENST00000262325.7	+	20	3288	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	912	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCCCAATTACACGGTAAGG	0.498																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2734-2736)tAc>tGc		adaptor-related protein complex 2, beta 1 subunit							97	87	91					17																	34044364		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34044364A>G	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2735A>G	17.37:g.34044364A>G	ENSP00000262325:p.Tyr912Cys					AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000545922.2_3'UTR	p.Y912C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	20	3288	+		Ovarian(249;0.17)	912			Interaction with ARRB1.		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2735A>G	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742860	0.49151	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.36157	1.53;1.54;1.27;1.54	5.72	5.72	0.89469	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.12182	0.205	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.005;0.009	P;B;B;B	0.56042	0.79;0.01;0.01;0.006	T	0.14172	-1.0482	10	0.25751	T	0.34	-13.2416	15.4767	0.75485	1.0:0.0:0.0:0.0	.	663;888;912;926	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	C	912;926;855;926;663	ENSP00000262325:Y912C;ENSP00000314414:Y926C;ENSP00000440563:Y855C;ENSP00000437413:Y926C	ENSP00000262325:Y912C	Y	+	2	0	AP2B1	31068477	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	6.181000	0.71988	2.304000	0.77564	0.528000	0.53228	TAC		0.498	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			7	433	0	0	0	1	0	7	433					G	34044364	A	G	34044364	3	3	79	1	0	0	0	0	1	0	0	0	741	391	14	4	2855	4	AP2B1	17	34044364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43067	34044364	47150846	17189	27506											
GAS2L2	246176	broad.mit.edu	37	chr17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggttccccagctgtctgTttcttcatgaacccaagatg	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	425					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCTGTCTGTTTCTTCATGA	0.582																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1273-1275)Aca>Tca		growth arrest-specific 2 like 2							127	138	134					17																	34073243		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073243T>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1273A>T	17.37:g.34073243T>A	ENSP00000254466:p.Thr425Ser					GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	p.T425S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1300	-		Ovarian(249;0.17)	425					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1273A>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285394	0.10513	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.97	2.76	0.32466	.	0.820742	0.10977	N	0.613112	T	0.11836	0.0288	L	0.51422	1.61	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.27938	-1.0059	10	0.10377	T	0.69	-0.3814	3.8482	0.08943	0.0:0.1962:0.1864:0.6173	.	425	Q8NHY3	GA2L2_HUMAN	S	425	ENSP00000254466:T425S	ENSP00000254466:T425S	T	-	1	0	GAS2L2	31097356	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.053000	0.11846	0.496000	0.27904	0.533000	0.62120	ACA		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		101	843	0	0	0	1	0	101	843					A	34073243	T	A	34073243	3	1	79	1	0	0	0	0	1	0	0	0	6275	1725	60	5	1373	5	GAS2L2	17	34073243	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28879	34073243	47121967	17190	27507											
TAF15	8148	broad.mit.edu	37	chr17	34147406	34147406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcaaccatataataaCcagggacagcagcaaaacat	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CATATAATAACCAGGGACAGC	0.358			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(253-255)aaC>aaT		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							93	93	93					17																	34147406		2203	4300	6503	SO:0001819	synonymous_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34147406C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.255C>T	17.37:g.34147406C>T						AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|TAF15_ENST00000592237.1_5'UTR	p.N85N	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	5	370	+		Ovarian(249;0.17)	85			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	c.255C>T	CCDS32623.1																																																																																				0.358	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		67	310	0	0	0	1	0	67	310					T	34147406	C	T	34147406	2	4	79	1	0	0	0	0	0	0	0	1	15570	506	18	2		2	TAF15	17	34147406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74163	34147406	47047804	17191	27508											
TAF15	8148	broad.mit.edu	37	chr17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctaccttgcagatttcCgggggagaggctacggtgga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	33					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1183-1185)Cgg>Tgg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							110	122	118					17																	34171486		2202	4299	6501	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171486C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1183C>T	17.37:g.34171486C>T	ENSP00000466950:p.Arg395Trp					TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	p.R395W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1298	+		Ovarian(249;0.17)	395			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1183C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915436	0.33815	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.38188	D	0.939823	B;B	0.24618	0.065;0.107	B;B	0.13407	0.004;0.009	T	0.19063	-1.0317	8	0.66056	D	0.02	-5.036	8.4932	0.33112	0.1747:0.6565:0.1688:0.0	.	395;392	Q92804;Q92804-2	RBP56_HUMAN;.	W	395;198	.	ENSP00000309558:R395W	R	+	1	2	TAF15	31195599	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.587000	0.60991	1.090000	0.41315	0.591000	0.81541	CGG		0.542	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		184	708	0	0	0	1	0	184	708					T	34171486	C	T	34171486	3	4	79	1	0	0	0	0	1	0	0	0	15570	643	23	1	1241	1	TAF15	17	34171486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24080	34171486	47023724	17192	27509											
TAF15	8148	broad.mit.edu	37	chr17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggtggcagtggctAcggtggagaccgaagtggag	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1621-1623)tAc>tGc		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							72	84	80					17																	34171925		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171925A>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1622A>G	17.37:g.34171925A>G	ENSP00000466950:p.Tyr541Cys					TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	p.Y541C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1737	+		Ovarian(249;0.17)	541			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1622A>G	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466511	0.26335	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.84	-0.218	0.13142	.	.	.	.	.	T	0.28532	0.0706	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.44816	0.758;0.844	B;P	0.46479	0.319;0.518	T	0.17198	-1.0377	8	0.87932	D	0	0.1347	4.7692	0.13148	0.2856:0.0:0.526:0.1884	.	541;538	Q92804;Q92804-2	RBP56_HUMAN;.	C	541;344	.	ENSP00000309558:Y541C	Y	+	2	0	TAF15	31196038	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	0.653000	0.24902	0.048000	0.15891	0.482000	0.46254	TAC		0.622	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		99	428	0	0	0	1	0	99	428					G	34171925	A	G	34171925	3	3	79	1	0	0	0	0	1	0	0	0	15570	391	14	4	1680	4	TAF15	17	34171925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	439	34171925	47023285	17193	27510											
CCL16	6360	broad.mit.edu	37	chr17	34308401	34308401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggctggctgcgagaagccGaagtaatgataaggatgagg	16	5	0	3	rs199602184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34308401G>A	ENST00000293275.3	-	1	131	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	19					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGAAGCCGAAGTAATGAT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20789	0.0		0.0	False		,,,				2504	0.0					ENST00000293275.3																			0				endometrium(1)|lung(2)	3						c.(55-57)tCg>tTg		chemokine (C-C motif) ligand 16							66	51	56					17																	34308401		2203	4300	6503	SO:0001583	missense	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34308401G>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"Chemokine ligands", "Endogenous ligands"	10614	protein-coding gene	gene with protein product		601394	"small inducible cytokine subfamily A (Cys-Cys), member 16"	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.56C>T	17.37:g.34308401G>A	ENSP00000293275:p.Ser19Leu						p.S19L	NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	131	-		Ovarian(249;0.17)	19					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.56C>T	CCDS11303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.41	2.527350	0.44969	.	.	ENSG00000161573	ENST00000293275	T	0.02837	4.14	3.76	1.64	0.23874	.	.	.	.	.	T	0.02267	0.0070	L	0.38692	1.165	0.09310	N	1	B	0.30146	0.27	B	0.14023	0.01	T	0.44892	-0.9298	9	0.37606	T	0.19	.	4.3932	0.11350	0.13:0.238:0.6319:0.0	.	19	O15467	CCL16_HUMAN	L	19	ENSP00000293275:S19L	ENSP00000293275:S19L	S	-	2	0	CCL16	31332514	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.391000	0.20784	0.864000	0.35578	0.462000	0.41574	TCG		0.572	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		4	68	0	0	0	1	0	4	68					A	34308401	G	A	34308401	3	1	79	1	0	0	0	0	1	0	0	0	2894	1059	37	1	318	1	CCL16	17	34308401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136476	34308401	46886809	17194	27511											
CCL3	6348	broad.mit.edu	37	chr17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtagtcagctatgaaattCtgtggaatctgccgggaggt	13	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	44					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552																																						ENST00000225245.5																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(130-132)caG>caT		chemokine (C-C motif) ligand 3							151	156	154					17																	34416585		2203	4297	6500	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416585C>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"Chemokine ligands", "Endogenous ligands"	10627	protein-coding gene	gene with protein product		182283	"small inducible cytokine A3 (homologous to mouse Mip-1a)"	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.132G>T	17.37:g.34416585C>A	ENSP00000225245:p.Gln44His					AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA	p.Q44H	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	214	-		Ovarian(249;0.17)	44						Missense_Mutation	SNP	ENST00000225245.5	37	c.132G>T	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023500	0.54683	.	.	ENSG00000006075	ENST00000225245	T	0.04917	3.53	5.4	-7.67	0.01272	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.283240	0.04979	N	0.465208	T	0.04634	0.0126	.	.	.	0.09310	N	1	P	0.41710	0.76	P	0.48598	0.583	T	0.36286	-0.9754	9	0.15499	T	0.54	.	0.8445	0.01158	0.2082:0.2022:0.1744:0.4152	.	44	P10147	CCL3_HUMAN	H	44	ENSP00000225245:Q44H	ENSP00000225245:Q44H	Q	-	3	2	CCL3	31440698	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-1.016000	0.03371	-0.948000	0.02665	CAG		0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		108	528	1	0	1.93806e-58	1	2.4311e-58	108	528					A	34416585	C	A	34416585	3	1	79	1	0	0	0	0	1	0	0	0	2908	912	32	3	154	3	CCL3	17	34416585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108184	34416585	46778625	17195	27512											
ZNHIT3	9326	broad.mit.edu	37	chr17	34849821	34849821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagtgatgaggaagaagacaGagtttctttgcagaatttaa	11	3	1	6	rs373839162		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34849821G>A	ENST00000225410.4	+	4	322	c.257G>A	c.(256-258)aGa>aAa	p.R86K	RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	86					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GAAGAAGACAGAGTTTCTTTG	0.353																																					Pancreas(89;112 2361 26810)	ENST00000225410.4																			0				lung(1)|pancreas(1)|prostate(1)	3						c.(256-258)aGa>aAa		zinc finger, HIT-type containing 3		G	LYS/ARG	0,4406		0,0,2203	147	145	146		257	6	1	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNHIT3	NM_004773.2	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	86/156	34849821	1,13005	2203	4300	6503	SO:0001583	missense	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34849821G>A	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"Zinc fingers, HIT-type"	12309	protein-coding gene	gene with protein product		604500	"thyroid hormone receptor interactor 3", "zinc finger, HIT type 3"	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.257G>A	17.37:g.34849821G>A	ENSP00000225410:p.Arg86Lys					ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000590858.1_Intron	p.R86K	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	4	322	+		Breast(25;0.00957)|Ovarian(249;0.17)	86					A8K493|K7EQP1|Q8WVJ3	Missense_Mutation	SNP	ENST00000225410.4	37	c.257G>A	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250359	0.59212	0.0	1.16E-4	ENSG00000108278	ENST00000225410	.	.	.	6.02	6.02	0.97574	.	0.040436	0.85682	D	0.000000	T	0.41696	0.1170	L	0.46741	1.465	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.43637	-0.9379	9	0.02654	T	1	-16.3055	16.0408	0.80680	0.0:0.0:1.0:0.0	.	86	Q15649	ZNHI3_HUMAN	K	86	.	ENSP00000225410:R86K	R	+	2	0	ZNHIT3	31923934	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	AGA		0.353	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		13	527	0	0	0	1	0	13	527					A	34849821	G	A	34849821	3	1	79	1	0	0	0	0	1	0	0	0	18261	942	33	2	271	2	ZNHIT3	17	34849821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433236	34849821	46345389	17196	27513											
MYO19	80179	broad.mit.edu	37	chr17	34859841	34859841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctccacgaggccacagGcctccagctggctcaggacc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	ENST00000431794.3	-	20	2447	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	642	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGCCACAGGCCTCCAGCTG	0.632																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1924-1926)gCc>gTc		myosin XIX							18	21	20					17																	34859841		2049	4180	6229	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34859841G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1925C>T	17.37:g.34859841G>A	ENSP00000409936:p.Ala642Val					MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	p.A642V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	20	2447	-		Breast(25;0.00957)|Ovarian(249;0.17)	642			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1925C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427773	0.96131	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95307	-2.29;-3.67	5.48	5.48	0.80851	Myosin head, motor domain (2);	.	.	.	.	D	0.97498	0.9181	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98029	1.0375	9	0.72032	D	0.01	.	17.8969	0.88891	0.0:0.0:1.0:0.0	.	642;442	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	642;442	ENSP00000409936:A642V;ENSP00000268852:A442V	ENSP00000268852:A442V	A	-	2	0	MYO19	31933954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.863000	0.92288	2.576000	0.86940	0.563000	0.77884	GCC		0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		6	28	0	0	0	1	0	6	28					A	34859841	G	A	34859841	3	1	79	1	0	0	0	0	1	0	0	0	10108	1203	42	2	1015	2	MYO19	17	34859841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10020	34859841	46335369	17197	27514											
PIGW	284098	broad.mit.edu	37	chr17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctaccctggggtatgtgGcaatacacatggctggtgtg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	314					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTATGTGGCAATACACAT	0.423																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(940-942)Gca>Aca		phosphatidylinositol glycan anchor biosynthesis, class W							85	80	82					17																	34893890		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893890G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.940G>A	17.37:g.34893890G>A	ENSP00000468778:p.Ala314Thr					PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron	p.A314T			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1520	+		Breast(25;0.00957)|Ovarian(249;0.17)	314					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.940G>A	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794035	0.50102	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.18	2.9	0.33743	.	0.055454	0.64402	N	0.000001	T	0.63070	0.2480	M	0.69358	2.11	0.58432	D	0.999999	B	0.29162	0.235	B	0.39068	0.289	T	0.57388	-0.7820	8	.	.	.	-1.7743	11.1881	0.48669	0.1645:0.0:0.8355:0.0	.	314	Q7Z7B1	PIGW_HUMAN	T	314	.	.	A	+	1	0	PIGW	31968003	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.335000	0.59298	0.533000	0.28675	0.561000	0.74099	GCA		0.423	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		18	352	0	0	0	1	0	18	352					A	34893890	G	A	34893890	3	1	79	1	0	0	0	0	1	0	0	0	11944	1203	42	2	942	2	PIGW	17	34893890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34049	34893890	46301320	17198	27515											
PIGW	284098	broad.mit.edu	37	chr17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtagttcaagtaaatgTagaagcagtatctcgaagaa	9	5	2	2	rs551293655	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	361					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1081-1083)gTa>gCa		phosphatidylinositol glycan anchor biosynthesis, class W							75	71	72					17																	34894032		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894032T>C	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1082T>C	17.37:g.34894032T>C	ENSP00000468778:p.Val361Ala					PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron	p.V361A			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1662	+		Breast(25;0.00957)|Ovarian(249;0.17)	361					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.1082T>C	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079745	0.36662	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	5.49	0.81192	.	0.522372	0.19962	N	0.102182	T	0.35248	0.0925	L	0.33339	1.005	0.30931	N	0.726925	B	0.17667	0.023	B	0.21151	0.033	T	0.30707	-0.9969	8	.	.	.	-1.2408	9.4746	0.38864	0.0:0.0876:0.0:0.9124	.	361	Q7Z7B1	PIGW_HUMAN	A	361	.	.	V	+	2	0	PIGW	31968145	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	2.992000	0.49417	2.216000	0.71823	0.459000	0.35465	GTA		0.348	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		42	197	0	0	0	1	0	42	197					C	34894032	T	C	34894032	3	2	79	1	0	0	0	0	1	0	0	0	11944	1638	57	4	1084	4	PIGW	17	34894032	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	34894032	46301178	17199	27516											
MRM1	79154	broad.mit.edu	37	chr17	34958504	34958504	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagcgggccgagctgCtccggatggccgaggcgcgg	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34958504C>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'UTR|MRM1_ENST00000250156.7_Missense_Mutation_p.L89I	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GGCCGAGCTGCTCCGGATGGC	0.687																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(265-267)Ctc>Atc		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							24	29	27					17																	34958504		2196	4285	6481	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958504C>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958504C>A						MRM1_ENST00000585770.1_5'UTR	p.L89I	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	504	+		Breast(25;0.00957)|Ovarian(249;0.17)	89					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.265C>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090167	0.36855	.	.	ENSG00000129282	ENST00000250156	T	0.34859	1.34	4.9	3.84	0.44239	RNA 2-O ribose methyltransferase, substrate binding (2);	0.316156	0.30859	N	0.008730	T	0.32763	0.0840	L	0.41961	1.31	0.80722	D	1	B	0.33583	0.418	B	0.40329	0.326	T	0.04737	-1.0930	10	0.22706	T	0.39	-16.5177	10.6441	0.45610	0.0:0.7042:0.2958:0.0	.	89	Q6IN84	MRM1_HUMAN	I	89	ENSP00000250156:L89I	ENSP00000250156:L89I	L	+	1	0	MRM1	32032617	0.955000	0.32602	0.992000	0.48379	0.188000	0.23474	1.339000	0.33885	2.423000	0.82170	0.555000	0.69702	CTC		0.687	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		78	324	1	0	6.09464e-36	1	7.28682e-36	78	324					A	34958504	C	A	34958504	1	1	79	0	1	0	0	0	0	0	0	0	9812	797	28	3		3	MRM1	17	34958504	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64472	34958504	46236706	17200	27517											
LHX1	3975	broad.mit.edu	37	chr17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacccgtcgcaggacgacGccaaggactcggagagcgcc	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	153					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(457-459)Gcc>Acc		LIM homeobox 1							50	49	49					17																	35297966		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297966G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.457G>A	17.37:g.35297966G>A	ENSP00000254457:p.Ala153Thr					RP11-445F12.2_ENST00000607336.1_RNA	p.A153T	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1868	+		Breast(25;0.00607)	153					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.457G>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290446	0.59976	.	.	ENSG00000132130	ENST00000254457	D	0.90676	-2.71	4.26	4.26	0.50523	.	0.072744	0.53938	D	0.000042	T	0.81088	0.4750	N	0.08118	0	0.58432	D	0.999994	B;B	0.15141	0.012;0.009	B;B	0.11329	0.006;0.002	T	0.74968	-0.3483	10	0.18710	T	0.47	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	139;153	B4DPA6;P48742	.;LHX1_HUMAN	T	153	ENSP00000254457:A153T	ENSP00000254457:A153T	A	+	1	0	LHX1	32372079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.524000	0.60552	2.648000	0.89879	0.561000	0.74099	GCC		0.652	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		60	289	0	0	0	1	0	60	289					A	35297966	G	A	35297966	3	1	79	1	0	0	0	0	1	0	0	0	8802	1087	38	1	467	1	LHX1	17	35297966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339462	35297966	45897244	17201	27518											
LHX1	3975	broad.mit.edu	37	chr17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggagacgctgaaggCcgccttcgctgctacaccca	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	197					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(589-591)gCc>gTc		LIM homeobox 1							28	31	30					17																	35298099		2195	4298	6493	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298099C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.590C>T	17.37:g.35298099C>T	ENSP00000254457:p.Ala197Val					RP11-445F12.2_ENST00000607336.1_RNA	p.A197V	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	2001	+		Breast(25;0.00607)	197					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.590C>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806526	0.96967	.	.	ENSG00000132130	ENST00000254457	D	0.96522	-4.04	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.47190	1.495	0.80722	D	1	P;D	0.59767	0.952;0.986	P;D	0.63033	0.884;0.91	D	0.97090	0.9790	10	0.59425	D	0.04	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	183;197	B4DPA6;P48742	.;LHX1_HUMAN	V	197	ENSP00000254457:A197V	ENSP00000254457:A197V	A	+	2	0	LHX1	32372212	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	5.871000	0.69628	2.648000	0.89879	0.561000	0.74099	GCC		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		34	105	0	0	0	1	0	34	105					T	35298099	C	T	35298099	3	4	79	1	0	0	0	0	1	0	0	0	8802	739	26	2	600	2	LHX1	17	35298099	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	35298099	45897111	17202	27519											
ACACA	31	broad.mit.edu	37	chr17	35446008	35446008	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattattgtcccaaacataaGcctgcaaacagatgactctt	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000394406.2	-	55	6972	c.6782C>A	c.(6781-6783)gCt>gAt	p.A2261D	ACACA_ENST00000353139.5_Splice_Site_p.A2298D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2261					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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e55-1		acetyl-CoA carboxylase alpha	Biotin(DB00121)						138	131	133					17																	35446008		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35446008G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6781-1C>A	17.37:g.35446008G>T						ACACA_ENST00000361253.5_Splice_Site_p.A387_splice|ACACA_ENST00000394406.2_Splice_Site_p.A2261_splice|ACACA_ENST00000360679.3_Splice_Site_p.A2203_splice|ACACA_ENST00000335166.5_Splice_Site_p.A2183_splice	p.A2298_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			55	7374	-		Breast(25;0.00157)|Ovarian(249;0.15)	2261					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37	c.6891_splice	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771870	0.69992	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	P;P;D;P;B	0.53312	0.948;0.9;0.959;0.738;0.164	P;P;P;B;B	0.54706	0.593;0.743;0.759;0.252;0.115	T	0.43163	-0.9408	10	0.23891	T	0.37	-12.9246	20.2033	0.98269	0.0:0.0:1.0:0.0	.	299;960;2298;2261;2203	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	D	2298;2203;2261;2285;2183;960;387	ENSP00000344789:A2298D;ENSP00000353898:A2203D;ENSP00000377928:A2261D;ENSP00000335323:A2183D;ENSP00000354565:A387D	ENSP00000335323:A2183D	A	-	2	0	ACACA	32520121	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.724000	0.74747	2.779000	0.95612	0.655000	0.94253	GCT		0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Missense_Mutation	136	582	1	0	1.02165e-56	1	1.27875e-56	136	582					T	35446008	G	T	35446008	5	4	79	1	0	0	0	0	0	0	1	0	106	985	34	3	266	3	ACACA	17	35446008	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147909	35446008	45749202	17203	27520											
ACACA	31	broad.mit.edu	37	chr17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttttccaatccaggaTatcctacatgcagagaagaa	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000394406.2	-	54	6803	c.6613A>G	c.(6613-6615)Atc>Gtc	p.I2205V	ACACA_ENST00000353139.5_Missense_Mutation_p.I2242V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2205					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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6724-6726)Atc>Gtc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						62	57	59					17																	35454098		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35454098T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6613A>G	17.37:g.35454098T>C	ENSP00000377928:p.Ile2205Val					ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000394406.2_Missense_Mutation_p.I2205V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V	p.I2242V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			54	7205	-		Breast(25;0.00157)|Ovarian(249;0.15)	2205					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6724A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.65	5.65	0.86999	Carboxyl transferase (1);	0.048645	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25789	0.76	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.003;0.001;0.0	T	0.08027	-1.0742	10	0.02654	T	1	-15.445	9.0636	0.36449	0.0:0.1424:0.0:0.8576	.	243;904;2242;2205;2147	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	V	2242;2147;2205;2229;2127;904;331	ENSP00000344789:I2242V;ENSP00000353898:I2147V;ENSP00000377928:I2205V;ENSP00000335323:I2127V;ENSP00000354565:I331V	ENSP00000335323:I2127V	I	-	1	0	ACACA	32528211	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.479000	0.53165	2.152000	0.67230	0.528000	0.53228	ATC		0.483	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		37	216	0	0	0	1	0	37	216					C	35454098	T	C	35454098	3	2	79	1	0	0	0	0	1	0	0	0	106	1406	49	4	439	4	ACACA	17	35454098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8090	35454098	45741112	17204	27521											
ACACA	31	broad.mit.edu	37	chr17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaggaactgaactgtGcacgctctaaaaggagattg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000394406.2	-	47	5909	c.5719C>T	c.(5719-5721)Cac>Tac	p.H1907Y	ACACA_ENST00000353139.5_Missense_Mutation_p.H1944Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5830-5832)Cac>Tac		acetyl-CoA carboxylase alpha	Biotin(DB00121)						103	93	97					17																	35486405		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35486405G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5719C>T	17.37:g.35486405G>A	ENSP00000377928:p.His1907Tyr					ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y	p.H1944Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			47	6311	-		Breast(25;0.00157)|Ovarian(249;0.15)	1907			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5830C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345306	0.24426	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.24	0.302	0.15786	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89181	0.6642	N	0.04959	-0.14	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.81709	-0.0809	10	0.51188	T	0.08	1.3312	4.0255	0.09685	0.5187:0.0:0.3028:0.1785	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Y	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944Y;ENSP00000353898:H1849Y;ENSP00000377928:H1907Y;ENSP00000335323:H1829Y;ENSP00000354565:H33Y	ENSP00000335323:H1829Y	H	-	1	0	ACACA	32560518	0.155000	0.22806	0.295000	0.24960	0.978000	0.69477	0.739000	0.26173	0.118000	0.18165	0.591000	0.81541	CAC		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		24	177	0	0	0	1	0	24	177					A	35486405	G	A	35486405	3	1	79	1	0	0	0	0	1	0	0	0	106	1319	46	2	1361	2	ACACA	17	35486405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32307	35486405	45708805	17205	27522											
ACACA	31	broad.mit.edu	37	chr17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcatcttgtgattagCacatggaatggcagtgaggt	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000394406.2	-	37	4379	c.4189G>A	c.(4189-4191)Gct>Act	p.A1397T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1434T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1397					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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4300-4302)Gct>Act		acetyl-CoA carboxylase alpha	Biotin(DB00121)						119	96	104					17																	35549147		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549147C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4189G>A	17.37:g.35549147C>T	ENSP00000377928:p.Ala1397Thr					ACACA_ENST00000394406.2_Missense_Mutation_p.A1397T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T	p.A1434T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			37	4781	-		Breast(25;0.00157)|Ovarian(249;0.15)	1397					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4300G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338998	0.60963	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.103647	0.64402	D	0.000004	T	0.56277	0.1974	M	0.77616	2.38	0.80722	D	1	P;P;B;B	0.40553	0.721;0.624;0.071;0.058	P;P;B;B	0.47864	0.559;0.46;0.039;0.037	T	0.50516	-0.8819	10	0.19590	T	0.45	-13.5938	19.4103	0.94670	0.0:1.0:0.0:0.0	.	145;1434;1397;1339	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1434;1339;1397;1421;1319;145	ENSP00000344789:A1434T;ENSP00000353898:A1339T;ENSP00000377928:A1397T;ENSP00000335323:A1319T	ENSP00000335323:A1319T	A	-	1	0	ACACA	32623260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GCT		0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		43	286	0	0	0	1	0	43	286					T	35549147	C	T	35549147	3	4	79	1	0	0	0	0	1	0	0	0	106	710	25	2	2931	2	ACACA	17	35549147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62742	35549147	45646063	17206	27523											
TADA2A	6871	broad.mit.edu	37	chr17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacccggaaaatctatgattTcctcatcagagaaggataca	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	433	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1297-1299)tTc>tAc		transcriptional adaptor 2A							131	135	134					17																	35837053		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35837053T>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1298T>A	17.37:g.35837053T>A	ENSP00000377918:p.Phe433Tyr					TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			16	1471	+			433			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1298T>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	31	5.071877	0.93950	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70809	-0.4771	10	0.38643	T	0.18	-16.576	15.9804	0.80105	0.0:0.0:0.0:1.0	.	433	O75478	TAD2A_HUMAN	Y	433;332;433	ENSP00000377918:F433Y;ENSP00000225396:F433Y	ENSP00000225396:F433Y	F	+	2	0	TADA2A	32911166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.176000	0.68965	0.455000	0.32223	TTC		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		192	677	0	0	0	1	0	192	677					A	35837053	T	A	35837053	3	1	79	1	0	0	0	0	1	0	0	0	15562	1783	62	5	1451	5	TADA2A	17	35837053	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287906	35837053	45358157	17207	27524											
DUSP14	11072	broad.mit.edu	37	chr17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgccagctctttgggaagtCgacagttaaaatggtacaga	12	8	1	1	rs199902442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L|DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14	169					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19080	0.0		0.0	False		,,,				2504	0.0					ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(505-507)tCg>tTg		dual specificity phosphatase 14							55	56	56					17																	35872880		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872880C>T	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	17007	protein-coding gene	gene with protein product	"MKP-1 like protein tyrosine phosphatase"	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.506C>T	17.37:g.35872880C>T	ENSP00000466299:p.Ser169Leu					DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L|DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L	p.S169L			O95147	DUS14_HUMAN			2	1484	+		Breast(25;0.00637)|Ovarian(249;0.15)	169						Missense_Mutation	SNP	ENST00000487847.1	37	c.506C>T	CCDS11320.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.32	2.798010	0.50208	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.62232	0.04;0.04	5.97	5.97	0.96955	.	0.112497	0.56097	D	0.000034	T	0.48132	0.1483	N	0.19112	0.55	0.38696	D	0.952888	B	0.23735	0.09	B	0.10450	0.005	T	0.50882	-0.8775	10	0.87932	D	0	.	13.7953	0.63166	0.2676:0.7324:0.0:0.0	.	169	O95147	DUS14_HUMAN	L	169	ENSP00000377912:S169L;ENSP00000377910:S169L	ENSP00000377910:S169L	S	+	2	0	DUSP14	32946993	0.903000	0.30736	0.971000	0.41717	0.987000	0.75469	1.805000	0.38883	2.833000	0.97629	0.585000	0.79938	TCG		0.537	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		74	326	0	0	0	1	0	74	326					T	35872880	C	T	35872880	3	4	79	1	0	0	0	0	1	0	0	0	4830	893	31	1	508	1	DUSP14	17	35872880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35827	35872880	45322330	17208	27525											
SYNRG	11276	broad.mit.edu	37	chr17	35896132	35896132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttattccatactttatcGatgtccttcagcaactgctg	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000339208.6	-	19	3755	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000345615.4_Silent_p.I1127I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1205					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3613-3615)atC>atT		synergin, gamma							198	162	174					17																	35896132		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35896132G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3615C>T	17.37:g.35896132G>A						SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000345615.4_Silent_p.I1127I|SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000591288.1_Silent_p.I999I	p.I1205I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			19	3755	-			1205					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3615C>T	CCDS11321.1																																																																																				0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		45	224	0	0	0	1	0	45	224					A	35896132	G	A	35896132	2	1	79	1	0	0	0	0	0	0	0	1	15512	1048	37	1		1	SYNRG	17	35896132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23252	35896132	45299078	17209	27526											
SYNRG	11276	broad.mit.edu	37	chr17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccaatggaagggagaTctaaggacttcactgatgca	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000339208.6	-	14	2581	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	814					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2440-2442)gAt>gGt		synergin, gamma							131	123	126					17																	35913384		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913384T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2441A>G	17.37:g.35913384T>C	ENSP00000343610:p.Asp814Gly					SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G|SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G	p.D814G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2581	-			814					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2441A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822171	0.71028	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65732	0.4;-0.17;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.79019	-0.1974	10	0.72032	D	0.01	-16.6853	15.7569	0.78037	0.0:0.0:0.0:1.0	.	653;736;736;736;814;814	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	G	814;653;814;736;736	ENSP00000005279:D814G;ENSP00000424893:D736G;ENSP00000377903:D736G	ENSP00000343610:D653G	D	-	2	0	SYNRG	32987497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAT		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		93	306	0	0	0	1	0	93	306					C	35913384	T	C	35913384	3	2	79	1	0	0	0	0	1	0	0	0	15512	1435	50	4	1612	4	SYNRG	17	35913384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17252	35913384	45281826	17210	27527											
SYNRG	11276	broad.mit.edu	37	chr17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttaaaatcggtgaaaCcatcatcagttcctgcagat	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000339208.6	-	14	1846	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	569	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1705-1707)gGt>gAt		synergin, gamma							154	150	151					17																	35914119		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35914119C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1706G>A	17.37:g.35914119C>T	ENSP00000343610:p.Gly569Asp					SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000588194.1_5'UTR	p.G569D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	1846	-			569			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1706G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.58652	0.89;1.43;0.32;0.34	6.08	6.08	0.98989	.	0.149646	0.64402	D	0.000011	T	0.74253	0.3692	L	0.59436	1.845	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	0.995;1.0;1.0;1.0;1.0;1.0	T	0.69749	-0.5061	10	0.39692	T	0.17	-18.8664	19.6516	0.95815	0.0:1.0:0.0:0.0	.	408;491;491;491;569;569	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	569;408;569;491;491	ENSP00000005279:G569D;ENSP00000343610:G408D;ENSP00000424893:G491D;ENSP00000377903:G491D	ENSP00000343610:G408D	G	-	2	0	SYNRG	32988232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GGT		0.398	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		72	449	0	0	0	1	0	72	449					T	35914119	C	T	35914119	3	4	79	1	0	0	0	0	1	0	0	0	15512	507	18	2	2347	2	SYNRG	17	35914119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	35914119	45281091	17211	27528											
GPR179	440435	broad.mit.edu	37	chr17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagcacccacctcccaggGacagatttctgccttcccag	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1706					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCAGGGACAGATTTCT	0.532																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5116-5118)Ccc>Acc		G protein-coupled receptor 179							78	80	79					17																	36484336		1938	4145	6083	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484336G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5116C>A	17.37:g.36484336G>T	ENSP00000345060:p.Pro1706Thr					GPR179_ENST00000584976.1_5'UTR	p.P1706T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5136	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1706						Missense_Mutation	SNP	ENST00000342292.4	37	c.5116C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352287	0.61293	.	.	ENSG00000188888	ENST00000342292	T	0.55930	0.49	5.13	1.97	0.26223	.	0.186936	0.26556	N	0.023703	T	0.60483	0.2272	M	0.72118	2.19	0.31653	N	0.646498	D	0.76494	0.999	P	0.62560	0.904	T	0.63699	-0.6578	10	0.66056	D	0.02	-9.0742	3.3315	0.07085	0.0939:0.1703:0.5596:0.1761	.	1706	Q6PRD1	GP179_HUMAN	T	1706	ENSP00000345060:P1706T	ENSP00000345060:P1706T	P	-	1	0	GPR179	33737862	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.563000	0.45922	1.386000	0.46466	0.655000	0.94253	CCC		0.532	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			114	478	1	0	6.25226e-48	1	7.70577e-48	114	478					T	36484336	G	T	36484336	3	4	79	1	0	0	0	0	1	0	0	0	6703	1174	41	3	1991	3	GPR179	17	36484336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570217	36484336	44710874	17212	27529											
SRCIN1	80725	broad.mit.edu	37	chr17	36700182	36700182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtcaccaccttcatgGgtggtacactgcctccgcca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	ENST00000264659.7	-	18	3517	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	970					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)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCTTCATGGGTGGTACACT	0.632																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(3292-3294)cCc>cTc		SRC kinase signaling inhibitor 1							17	20	19					17																	36700182		2197	4291	6488	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.chr17:36700182G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3293C>T	17.37:g.36700182G>A	ENSP00000264659:p.Pro1098Leu					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L	p.P1098L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			18	3517	-			970					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3293C>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298294	0.60195	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.48836	0.8	5.23	5.23	0.72850	.	0.149056	0.46442	D	0.000293	T	0.41581	0.1165	L	0.50333	1.59	0.53005	D	0.999965	P;P;B	0.41848	0.763;0.557;0.358	B;B;B	0.33960	0.173;0.124;0.124	T	0.38908	-0.9639	10	0.35671	T	0.21	-20.1707	17.5529	0.87881	0.0:0.0:1.0:0.0	.	970;970;1098	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1098;879;993	ENSP00000264659:P1098L	ENSP00000264659:P1098L	P	-	2	0	SRCIN1	33953708	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	7.637000	0.83313	2.425000	0.82216	0.462000	0.41574	CCC		0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		8	44	0	0	0	1	0	8	44					A	36700182	G	A	36700182	3	1	79	1	0	0	0	0	1	0	0	0	15188	1232	43	2	266	2	SRCIN1	17	36700182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215846	36700182	44495028	17213	27530											
PIP4K2B	8396	broad.mit.edu	37	chr17	36926743	36926743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctttgtatcgtatggCgtgaggatatcaatgatggc	11	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	372	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(1114-1116)acG>acA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							224	198	207					17																	36926743		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36926743C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.1116G>A	17.37:g.36926743C>T							p.T372T	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			9	1596	-			372			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.1116G>A	CCDS11329.1																																																																																				0.547	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		57	660	0	0	0	1	0	57	660					T	36926743	C	T	36926743	2	4	79	1	0	0	0	0	0	0	0	1	11979	755	27	1		1	PIP4K2B	17	36926743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226561	36926743	44268467	17214	27531											
CWC25	54883	broad.mit.edu	37	chr17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtcagaggaccctgaaGaccctggttacggtcagagt	13	10	2	4	rs368538772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	240										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(718-720)Ctt>Att		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							96	93	94					17																	36963202		1914	4129	6043	SO:0001583	missense	54883							g.chr17:36963202G>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.718C>A	17.37:g.36963202G>T	ENSP00000225428:p.Leu240Ile					CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	p.L240I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			7	1015	-			240					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.718C>A	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593289	0.13875	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.29655	1.56;1.56	5.27	2.21	0.28008	.	0.579153	0.15532	N	0.257431	T	0.23492	0.0568	L	0.51422	1.61	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.14023	0.01;0.009	T	0.19386	-1.0307	10	0.36615	T	0.2	.	4.5944	0.12322	0.2572:0.1612:0.5816:0.0	.	177;240	B4DJK2;Q9NXE8	.;CWC25_HUMAN	I	240;177	ENSP00000225428:L240I;ENSP00000438566:L177I	ENSP00000225428:L240I	L	-	1	0	CWC25	34216728	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.731000	0.26058	0.373000	0.24621	0.462000	0.41574	CTT		0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		66	306	1	0	5.00936e-31	1	5.8875e-31	66	306					T	36963202	G	T	36963202	3	4	79	1	0	0	0	0	1	0	0	0	4080	942	33	3	575	3	CWC25	17	36963202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36459	36963202	44232008	17215	27532											
FBXO47	494188	broad.mit.edu	37	chr17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcagcaatgtgcatctTttaaacagtagacctaagaa	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(364-366)aaA>aaC		F-box protein 47							174	172	172					17																	37113493		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37113493T>G		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.366A>C	17.37:g.37113493T>G	ENSP00000367319:p.Lys122Asn						p.K122N	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			4	565	-			122					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.366A>C	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348317	0.61183	.	.	ENSG00000204952	ENST00000378079	T	0.50277	0.75	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.71581	2.175	0.40979	D	0.984767	D	0.76494	0.999	D	0.80764	0.994	T	0.64162	-0.6472	10	0.87932	D	0	-3.8362	6.6748	0.23087	0.0:0.2598:0.0:0.7402	.	122	Q5MNV8	FBX47_HUMAN	N	122	ENSP00000367319:K122N	ENSP00000367319:K122N	K	-	3	2	FBXO47	34367019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	0.856000	0.35383	0.528000	0.53228	AAA		0.318	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		95	452	0	0	0	1	0	95	452					G	37113493	T	G	37113493	3	3	79	1	0	0	0	0	1	0	0	0	5781	1838	64	4	1024	4	FBXO47	17	37113493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150291	37113493	44081717	17216	27533											
PLXDC1	57125	broad.mit.edu	37	chr17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttaccttctgtggtgaggCtgtcgatgaagagggaggag	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	391					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1171-1173)aGc>aTc		plexin domain containing 1							135	101	113					17																	37234180		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234180C>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1172G>T	17.37:g.37234180C>A	ENSP00000323927:p.Ser391Ile					PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I	p.S391I	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1383	-			391					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1172G>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573369	0.13623	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.43688	0.94;0.94	5.38	3.27	0.37495	.	0.841724	0.11355	N	0.572507	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	P;P	0.46395	0.838;0.877	P;P	0.47470	0.451;0.548	T	0.42292	-0.9460	10	0.59425	D	0.04	-28.3204	8.3469	0.32279	0.0:0.7454:0.162:0.0925	.	351;391	B4E173;Q8IUK5	.;PXDC1_HUMAN	I	391;318;351	ENSP00000323927:S391I;ENSP00000409687:S351I	ENSP00000323927:S391I	S	-	2	0	PLXDC1	34487706	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.321000	0.33678	1.506000	0.48736	-0.165000	0.13383	AGC		0.607	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		57	266	1	0	1.55088e-19	1	1.7306e-19	57	266					A	37234180	C	A	37234180	3	1	79	1	0	0	0	0	1	0	0	0	12159	797	28	3	346	3	PLXDC1	17	37234180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120687	37234180	43961030	17217	27534											
PLXDC1	57125	broad.mit.edu	37	chr17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaagtgtcaggggaggCtgagtcgtggtcctcatcct	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	367					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1099-1101)Gcc>Acc		plexin domain containing 1							195	129	152					17																	37234253		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234253C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1099G>A	17.37:g.37234253C>T	ENSP00000323927:p.Ala367Thr					PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T	p.A367T	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1310	-			367					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1099G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166156	0.09339	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.21734	1.99;1.99	5.2	0.627	0.17675	.	0.467132	0.21120	N	0.079822	T	0.11324	0.0276	N	0.22421	0.69	0.31484	N	0.666856	B;B	0.26935	0.164;0.041	B;B	0.22601	0.04;0.025	T	0.33752	-0.9856	10	0.10377	T	0.69	-11.8196	11.4445	0.50114	0.2013:0.7065:0.0921:0.0	.	327;367	B4E173;Q8IUK5	.;PXDC1_HUMAN	T	367;294;327	ENSP00000323927:A367T;ENSP00000409687:A327T	ENSP00000323927:A367T	A	-	1	0	PLXDC1	34487779	0.111000	0.22076	0.074000	0.20217	0.112000	0.19704	0.621000	0.24418	-0.026000	0.13895	0.655000	0.94253	GCC		0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		55	259	0	0	0	1	0	55	259					T	37234253	C	T	37234253	3	4	79	1	0	0	0	0	1	0	0	0	12159	797	28	2	419	2	PLXDC1	17	37234253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	37234253	43960957	17218	27535											
PLXDC1	57125	broad.mit.edu	37	chr17	37239786	37239786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcacagctcctatgctgCaggcaggctgcaagagagaa	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000394316.2_Silent_p.L305L|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.L265L|CTD-2206N4.4_ENST00000583447.1_RNA|AC091178.1_ENST00000410562.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	305					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(913-915)ctG>ctA		plexin domain containing 1							83	50	62					17																	37239786		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37239786C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.915G>A	17.37:g.37239786C>T						PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.L265L|PLXDC1_ENST00000394316.2_Silent_p.L305L	p.L305L	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			9	1126	-			305					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.915G>A	CCDS11333.1																																																																																				0.567	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		14	89	0	0	0	1	0	14	89					T	37239786	C	T	37239786	2	4	79	1	0	0	0	0	0	0	0	1	12159	697	25	2		2	PLXDC1	17	37239786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5533	37239786	43955424	17219	27536											
PLXDC1	57125	broad.mit.edu	37	chr17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgagaatcatgaaggcatCcgataggccggttttgacag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	258					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(772-774)Gat>Aat		plexin domain containing 1							136	134	135					17																	37262146		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37262146C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.772G>A	17.37:g.37262146C>T	ENSP00000323927:p.Asp258Asn					PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N	p.D258N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			7	983	-			258					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.772G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604905	0.46423	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.23	5.23	0.72850	.	0.114353	0.64402	D	0.000019	D	0.88640	0.6491	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90222	0.4272	10	0.87932	D	0	-21.06	15.5258	0.75905	0.0:1.0:0.0:0.0	.	258	Q8IUK5	PXDC1_HUMAN	N	258;185;185;218;258;185	ENSP00000323927:D258N;ENSP00000441881:D185N;ENSP00000409687:D218N;ENSP00000377851:D258N;ENSP00000393227:D185N	ENSP00000323927:D258N	D	-	1	0	PLXDC1	34515672	1.000000	0.71417	0.420000	0.26596	0.590000	0.36582	7.079000	0.76829	2.440000	0.82611	0.561000	0.74099	GAT		0.587	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		152	620	0	0	0	1	0	152	620					T	37262146	C	T	37262146	3	4	79	1	0	0	0	0	1	0	0	0	12159	855	30	2	762	2	PLXDC1	17	37262146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22360	37262146	43933064	17220	27537											
PLXDC1	57125	broad.mit.edu	37	chr17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctccggttccagccccGcacggtccctttggcagccc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	42					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(124-126)Cgg>Tgg		plexin domain containing 1							44	45	45					17																	37296038		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37296038G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.124C>T	17.37:g.37296038G>A	ENSP00000323927:p.Arg42Trp					PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W	p.R42W	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			2	335	-			42					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.124C>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344085	0.05208	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24908	1.83	5.39	2.11	0.27256	.	1.246720	0.05575	N	0.571727	T	0.12518	0.0304	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.36615	T	0.2	0.0837	3.5256	0.07759	0.0912:0.2012:0.5364:0.1712	.	42	Q8IUK5	PXDC1_HUMAN	W	42	ENSP00000323927:R42W	ENSP00000323927:R42W	R	-	1	2	PLXDC1	34549564	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	1.263000	0.33004	0.167000	0.19631	-0.397000	0.06425	CGG		0.657	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		51	272	0	0	0	1	0	51	272					A	37296038	G	A	37296038	3	1	79	1	0	0	0	0	1	0	0	0	12159	1086	38	1	1430	1	PLXDC1	17	37296038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33892	37296038	43899172	17221	27538											
STAC2	342667	broad.mit.edu	37	chr17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcccaccataccaggCtccttgtcggggactcagag	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617																																						ENST00000333461.5																			1	Substitution - Missense(1)	p.S232N(1)	large_intestine(1)	NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(694-696)aGc>aAc		SH3 and cysteine rich domain 2							89	90	89					17																	37371375		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371375C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.695G>A	17.37:g.37371375C>T	ENSP00000327509:p.Ser232Asn						p.S232N	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			5	1064	-			232					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.695G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	STAC2	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC		0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		86	382	0	0	0	1	0	86	382					T	37371375	C	T	37371375	3	4	79	1	0	0	0	0	1	0	0	0	15292	797	28	2	568	2	STAC2	17	37371375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75337	37371375	43823835	17222	27539											
MED1	5469	broad.mit.edu	37	chr17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgaagatgacttcatgCcagagcttgaactagttcca	8	11	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000300651.6	-	17	3948	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3724-3726)gGc>gAc		mediator complex subunit 1							89	88	88					17																	37564749		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564749C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3725G>A	17.37:g.37564749C>T	ENSP00000300651:p.Gly1242Asp	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.G1242D	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3948	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1242			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3725G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054042	0.36277	.	.	ENSG00000125686	ENST00000300651	T	0.53423	0.62	5.35	4.38	0.52667	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.38521	D	0.948728	B	0.27853	0.191	B	0.23275	0.045	T	0.12915	-1.0529	9	0.19147	T	0.46	-1.542	9.8581	0.41098	0.0:0.7876:0.1396:0.0728	.	1242	Q15648	MED1_HUMAN	D	1242	ENSP00000300651:G1242D	ENSP00000300651:G1242D	G	-	2	0	MED1	34818275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	1.620000	0.50308	0.655000	0.94253	GGC		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		73	296	0	0	0	1	0	73	296					T	37564749	C	T	37564749	3	4	79	1	0	0	0	0	1	0	0	0	9466	739	26	2	1024	2	MED1	17	37564749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193374	37564749	43630461	17223	27540											
MED1	5469	broad.mit.edu	37	chr17	37584042	37584042	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaggttcattaaatgAcctataaaaaataaaactca	3	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000394287.3	-	10	856	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000300651.6_Splice_Site_p.G217G			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.e10-1		mediator complex subunit 1							73	74	74					17																	37584042		2203	4300	6503	SO:0001630	splice_region_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37584042A>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.650-1T>C	17.37:g.37584042A>G		HNSCC(31;0.082)				MED1_ENST00000394287.3_Splice_Site_p.G217_splice	p.G217_splice	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	10	874	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	217			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Splice_Site	SNP	ENST00000394287.3	37	c.649_splice																																																																																					0.303	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774	Silent	19	93	0	0	0	1	0	19	93					G	37584042	A	G	37584042	5	3	79	1	0	0	0	0	0	0	1	0	9466	289	10	4	4126	4	MED1	17	37584042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19293	37584042	43611168	17224	27541											
CDK12	51755	broad.mit.edu	37	chr17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacacccaaaagttacaAaacagtggacagcccaaaac	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	211					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(631-633)aAa>aCa		cyclin-dependent kinase 12																																				SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618956A>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.632A>C	17.37:g.37618956A>C	ENSP00000398880:p.Lys211Thr	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	665	+			211					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.632A>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113683	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	5.07	5.07	0.68467	.	0.000000	0.46442	D	0.000288	T	0.56992	0.2023	L	0.44542	1.39	0.39766	D	0.97209	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.83275	0.994;0.968;0.996	T	0.62282	-0.6887	10	0.72032	D	0.01	-10.8059	14.8276	0.70125	1.0:0.0:0.0:0.0	.	211;211;211	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	211	ENSP00000407720:K211T;ENSP00000398880:K211T	ENSP00000407720:K211T	K	+	2	0	CDK12	34872482	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.154000	0.77437	1.907000	0.55213	0.379000	0.24179	AAA		0.507	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		118	407	0	0	0	1	0	118	407					C	37618956	A	C	37618956	3	2	79	1	0	0	0	0	1	0	0	0	3137	14	1	4	634	4	CDK12	17	37618956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34914	37618956	43576254	17225	27542											
CDK12	51755	broad.mit.edu	37	chr17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatcagaaaaggagacccCtccacctcttcccacaattg	5	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	526					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1576-1578)cCt>cAt		cyclin-dependent kinase 12							144	153	150					17																	37627662		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627662C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1577C>A	17.37:g.37627662C>A	ENSP00000398880:p.Pro526His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1610	+			526					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1577C>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672699	0.29693	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72051	-0.62;-0.59	5.99	-6.48	0.01896	.	0.643554	0.13842	N	0.358957	T	0.47783	0.1464	N	0.19112	0.55	0.31816	N	0.626596	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.003;0.003;0.008	T	0.14364	-1.0475	10	0.62326	D	0.03	6.8656	8.384	0.32488	0.0976:0.3726:0.0:0.5298	.	525;526;526	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	526	ENSP00000407720:P526H;ENSP00000398880:P526H	ENSP00000407720:P526H	P	+	2	0	CDK12	34881188	0.945000	0.32115	0.480000	0.27341	0.718000	0.41266	0.153000	0.16323	-1.116000	0.02969	-0.140000	0.14226	CCT		0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		172	614	1	0	4.04931e-71	1	5.14713e-71	172	614					A	37627662	C	A	37627662	3	1	79	1	0	0	0	0	1	0	0	0	3137	681	24	3	1583	3	CDK12	17	37627662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	37627662	43567548	17226	27543											
ERBB2	2064	broad.mit.edu	37	chr17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggctacgtgctcatcGctcacaaccaagtgaggcag	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000269571.5	+	3	418	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	87					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(169-171)Gct>Act		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						79	74	76					17																	37864607		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37864607G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.259G>A	17.37:g.37864607G>A	ENSP00000269571:p.Ala87Thr	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000445658.2_Intron	p.A57T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	5	679	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	87					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.169G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750857	0.69533	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.86871	0.6037	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.936	D	0.87494	0.2429	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	57;72;87;87	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	T	57;72;87;57;57	ENSP00000385185:A57T;ENSP00000446466:A72T;ENSP00000269571:A87T;ENSP00000443562:A57T;ENSP00000446382:A57T	ENSP00000269571:A87T	A	+	1	0	ERBB2	35118133	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	GCT		0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			91	354	0	0	0	1	0	91	354					A	37864607	G	A	37864607	3	1	79	1	0	0	0	0	1	0	0	0	5224	1087	38	1	269	1	ERBB2	17	37864607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236945	37864607	43330603	17227	27544											
ERBB2	2064	broad.mit.edu	37	chr17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgcagcaagccctgtGcccgaggtacccactcactg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000269571.5	+	8	1174	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	339					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(925-927)Gcc>Acc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						108	84	92					17																	37868294		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868294G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1015G>A	17.37:g.37868294G>A	ENSP00000269571:p.Ala339Thr	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T	p.A309T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	10	1435	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	339					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.925G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;T;D;D;D	0.84070	-1.8;-1.8;0.98;-1.8;-1.8;-1.8	5.3	4.3	0.51218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.76550	0.4003	L	0.29908	0.895	0.42433	D	0.992688	B;B;B;B;B	0.33528	0.019;0.057;0.057;0.024;0.416	B;B;B;B;B	0.38712	0.005;0.015;0.014;0.02;0.28	T	0.78089	-0.2340	9	0.72032	D	0.01	.	11.4994	0.50428	0.0:0.2466:0.7534:0.0	.	63;309;324;339;339	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	T	309;324;63;339;309;309	ENSP00000385185:A309T;ENSP00000446466:A324T;ENSP00000404047:A63T;ENSP00000269571:A339T;ENSP00000443562:A309T;ENSP00000446382:A309T	ENSP00000269571:A339T	A	+	1	0	ERBB2	35121820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.770000	0.55310	2.766000	0.95052	0.491000	0.48974	GCC		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			54	539	0	0	0	1	0	54	539					A	37868294	G	A	37868294	3	1	79	1	0	0	0	0	1	0	0	0	5224	1319	46	2	1045	2	ERBB2	17	37868294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3687	37868294	43326916	17228	27545											
ERBB2	2064	broad.mit.edu	37	chr17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggatgtgcggctcGtacacagggacttggccgct	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2434-2436)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						70	61	64					17																	37881332		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	17.37:g.37881332G>A	ENSP00000269571:p.Val842Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I	p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	2944	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	842			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2434G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			50	210	0	0	0	1	0	50	210					A	37881332	G	A	37881332	3	1	79	1	0	0	0	0	1	0	0	0	5224	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13038	37881332	43313878	17229	27546											
ERBB2	2064	broad.mit.edu	37	chr17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgggatcccagcccgggaGatccctgacctgctggaaaa	13	12	0	2	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000269571.5	+	23	2949	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2698-2700)gaG>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	G	ASP/GLU,ASP/GLU	0,4406		0,0,2203	82	73	76		2700,2790	2.4	1	17	dbSNP_134	76	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	45,45	0,5,6498	TT,TG,GG		0.0581,0.0,0.0384	benign,benign	900/1226,930/1256	37882024	5,13001	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882024G>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2790G>T	17.37:g.37882024G>T	ENSP00000269571:p.Glu930Asp	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D	p.E900D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	25	3210	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	930			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2700G>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823520	0.32237	0.0	5.81E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	2.44	0.29823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71143	0.3305	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20052	0.041;0.013;0.041	B;B;B	0.24394	0.053;0.005;0.053	T	0.61686	-0.7012	9	0.45353	T	0.12	.	9.0774	0.36531	0.2885:0.0:0.7115:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	D	900;915;654;930;900	ENSP00000385185:E900D;ENSP00000446466:E915D;ENSP00000404047:E654D;ENSP00000269571:E930D;ENSP00000443562:E900D	ENSP00000269571:E930D	E	+	3	2	ERBB2	35135550	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	0.225000	0.17757	0.291000	0.22468	-0.251000	0.11542	GAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			62	240	1	0	1.53716e-24	1	1.75837e-24	62	240					T	37882024	G	T	37882024	3	4	79	1	0	0	0	0	1	0	0	0	5224	933	33	3	2880	3	ERBB2	17	37882024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	692	37882024	43313186	17230	27547											
ERBB2	2064	broad.mit.edu	37	chr17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaccagccagatgttcGgccccagcccccttcgcccc	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000269571.5	+	27	3596	c.3437G>A	c.(3436-3438)cGg>cAg	p.R1146Q	ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1146					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3346-3348)cGg>cAg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						38	46	43					17																	37883966		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883966G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3437G>A	17.37:g.37883966G>A	ENSP00000269571:p.Arg1146Gln	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1146Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q	p.R1116Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	29	3857	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1146					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3347G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365160	0.05103	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75154	-0.91;-0.91;-0.89;-0.91;-0.91	5.06	-1.24	0.09435	.	.	.	.	.	T	0.62380	0.2423	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.47711	-0.9096	9	0.24483	T	0.36	.	9.9529	0.41649	0.4335:0.0:0.5665:0.0	.	870;1131;1146	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1116;1131;870;1146;1116	ENSP00000385185:R1116Q;ENSP00000446466:R1131Q;ENSP00000404047:R870Q;ENSP00000269571:R1146Q;ENSP00000443562:R1116Q	ENSP00000269571:R1146Q	R	+	2	0	ERBB2	35137492	0.000000	0.05858	0.068000	0.19968	0.277000	0.26821	0.169000	0.16641	-0.072000	0.12864	0.455000	0.32223	CGG		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			53	203	0	0	0	1	0	53	203					A	37883966	G	A	37883966	3	1	79	1	0	0	0	0	1	0	0	0	5224	1116	39	1	3543	1	ERBB2	17	37883966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	37883966	43311244	17231	27548											
C17orf37	84299	broad.mit.edu	37	chr17	37885946	37885946	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaatactcacatctttctCatagggaaagcccccattct	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37885946C>A	ENST00000394231.3	-	3	547	c.256G>T	c.(256-258)Gag>Tag	p.E86*	MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E86*|ERBB2_ENST00000584888.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	86					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ACATCTTTCTCATAGGGAAAG	0.473																																						ENST00000394231.3																			0											c.(256-258)Gag>Tag		migration and invasion enhancer 1							188	182	184					17																	37885946		2203	4300	6503	SO:0001587	stop_gained	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37885946C>A	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.256G>T	17.37:g.37885946C>A	ENSP00000377778:p.Glu86*					MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E86*|ERBB2_ENST00000584888.1_Intron	p.E86*			Q9BRT3	CQ037_HUMAN			3	547	-			86						Nonsense_Mutation	SNP	ENST00000394231.3	37	c.256G>T	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252296	0.95336	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.8	5.8	0.92144	.	0.061551	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.6872	18.8259	0.92119	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000377778:E86X	E	-	1	0	C17orf37	35139472	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.060000	0.64312	2.746000	0.94184	0.591000	0.81541	GAG		0.473	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		82	854	1	0	1.21826e-31	1	1.43537e-31	82	854					A	37885946	C	A	37885946	4	1	79	1	0	0	0	0	0	1	0	0	1860	835	29	3	99	3	C17orf37	17	37885946	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1980	37885946	43309264	17232	27549											
GRB7	2886	broad.mit.edu	37	chr17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtgccacagctcGccacgtgtgtgaaatgctgg	15	11	0	1	rs200112951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	125	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCACAGCTCGCCACGTGTGT	0.622																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(373-375)cGc>cAc		growth factor receptor-bound protein 7							70	66	67					17																	37899218		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899218G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.374G>A	17.37:g.37899218G>A	ENSP00000310771:p.Arg125His					GRB7_ENST00000578702.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H	p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	631	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		125			Ras-associating.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.374G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813108	0.50527	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.77	4.77	0.60923	Ras-association (3);	0.168736	0.51477	D	0.000089	T	0.23171	0.0560	L	0.60845	1.875	0.80722	D	1	B;P	0.36535	0.021;0.557	B;B	0.31337	0.004;0.128	T	0.07102	-1.0790	10	0.59425	D	0.04	-20.5719	17.0724	0.86578	0.0:0.0:1.0:0.0	.	125;125	Q14451-2;Q14451	.;GRB7_HUMAN	H	125;125;125;125;148;125	ENSP00000311752:R125H;ENSP00000310771:R125H;ENSP00000377761:R125H;ENSP00000377759:R125H;ENSP00000403459:R148H;ENSP00000377754:R125H	ENSP00000310771:R125H	R	+	2	0	GRB7	35152744	0.998000	0.40836	0.969000	0.41365	0.046000	0.14306	5.327000	0.65881	2.653000	0.90120	0.561000	0.74099	CGC		0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		15	371	0	0	0	1	0	15	371					A	37899218	G	A	37899218	3	1	79	1	0	0	0	0	1	0	0	0	6789	1087	38	1	384	1	GRB7	17	37899218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13272	37899218	43295992	17233	27550											
GRB7	2886	broad.mit.edu	37	chr17	37899533	37899533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaaacttcgccaagtaCgaactgttcaagagctcccc	8	13	1	1	rs377657100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000309185.3_Silent_p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	188					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(562-564)taC>taT		growth factor receptor-bound protein 7		C	,,,	0,4406		0,0,2203	93	89	90		564,633,564,564	-10.1	0.3	17		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	188/533,211/556,188/533,188/533	37899533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899533C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.564C>T	17.37:g.37899533C>T						GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y	p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	821	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		188					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	37	c.564C>T	CCDS11345.1																																																																																				0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		70	297	0	0	0	1	0	70	297					T	37899533	C	T	37899533	2	4	79	1	0	0	0	0	0	0	0	1	6789	547	19	1		1	GRB7	17	37899533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315	37899533	43295677	17234	27551											
GRB7	2886	broad.mit.edu	37	chr17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggctggctgccttccGcctcttcaaggtgagaccct	11	15	2	1	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	334	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1000-1002)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	28	31	30		1001,1070,1001,1001	5.2	1	17	dbSNP_134	30	0,8600		0,0,4300	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/533,357/556,334/533,334/533	37901227	1,13003	2202	4300	6502	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901227G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1001G>A	17.37:g.37901227G>A	ENSP00000310771:p.Arg334His					GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H	p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		9	1258	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		334			PH.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1001G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459949	0.96240	2.27E-4	0.0	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048350	0.85682	D	0.000000	D	0.89061	0.6608	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	D	0.90993	0.4836	10	0.87932	D	0	-32.8545	18.4577	0.90727	0.0:0.0:1.0:0.0	.	334;334	Q14451-2;Q14451	.;GRB7_HUMAN	H	334;334;334;334;357;334	ENSP00000311752:R334H;ENSP00000310771:R334H;ENSP00000377761:R334H;ENSP00000377759:R334H;ENSP00000403459:R357H;ENSP00000377754:R334H	ENSP00000310771:R334H	R	+	2	0	GRB7	35154753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	2.681000	0.91329	0.561000	0.74099	CGC		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		32	133	0	0	0	1	0	32	133					A	37901227	G	A	37901227	3	1	79	1	0	0	0	0	1	0	0	0	6789	1087	38	1	1031	1	GRB7	17	37901227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1694	37901227	43293983	17235	27552											
IKZF3	22806	broad.mit.edu	37	chr17	37922578	37922578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgataactggaaccatctccGaggtgggagcaggcggtgtc	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37922578G>A	ENST00000346872.3	-	8	1056	c.995C>T	c.(994-996)tCg>tTg	p.S332L	IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L|IKZF3_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	332					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACCATCTCCGAGGTGGGAGC	0.567																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(994-996)tCg>tTg		IKAROS family zinc finger 3 (Aiolos)							92	83	86					17																	37922578		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922578G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.995C>T	17.37:g.37922578G>A	ENSP00000344544:p.Ser332Leu					IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L	p.S332L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1056	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		332					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.995C>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.152459|5.152459	0.94645|0.94645	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.11063	.|3.27;3.24;2.99;2.81;3.44;3.08;3.14;3.22;3.08;4.06	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.119855	.|0.38381	.|N	.|0.001711	T|T	0.30166|0.30166	0.0756|0.0756	M|M	0.78344|0.78344	2.41|2.41	0.46927|0.46927	D|D	0.999257|0.999257	.|P;D;D;D;D;P;P;D;D;D;D;D;B	.|0.60575	.|0.921;0.975;0.975;0.975;0.988;0.756;0.939;0.975;0.966;0.988;0.966;0.966;0.452	.|B;B;B;B;B;B;P;B;B;P;P;P;B	.|0.54238	.|0.239;0.4;0.32;0.4;0.422;0.388;0.503;0.32;0.388;0.746;0.503;0.503;0.154	T|T	0.00540|0.00540	-1.1681|-1.1681	5|10	.|0.46703	.|T	.|0.11	-5.4125|-5.4125	19.9156|19.9156	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245;111;150;198;189;298;254;237;293;276;293;259;332	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	W|L	247;286|332;237;198;150;189;245;111;298;293;254;293;276	.|ENSP00000367180:S198L;ENSP00000377741:S150L;ENSP00000367179:S189L;ENSP00000367194:S245L;ENSP00000367188:S111L;ENSP00000438972:S298L;ENSP00000345622:S293L;ENSP00000341977:S254L;ENSP00000344471:S293L;ENSP00000420463:S276L	.|ENSP00000341977:S254L	R|S	-|-	1|2	2|0	IKZF3|IKZF3	35176104|35176104	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.991000|0.991000	0.79684|0.79684	8.357000|8.357000	0.90088|0.90088	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.567	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		12	413	0	0	0	1	0	12	413					A	37922578	G	A	37922578	3	1	79	1	0	0	0	0	1	0	0	0	7646	1059	37	1	538	1	IKZF3	17	37922578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21351	37922578	43272632	17236	27553											
ZPBP2	124626	broad.mit.edu	37	chr17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtttccgtccttacctAtggagctaaatcttgcccac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000348931.4	+	8	1153	c.962A>G	c.(961-963)tAt>tGt	p.Y321C	ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y299C|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	321					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408																																						ENST00000377940.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(895-897)tAt>tGt		zona pellucida binding protein 2							203	188	193					17																	38033007		2203	4300	6503	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38033007A>G	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.962A>G	17.37:g.38033007A>G	ENSP00000335384:p.Tyr321Cys					ZPBP2_ENST00000348931.4_Missense_Mutation_p.Y321C|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C	p.Y299C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1035	+	Colorectal(19;0.000442)		321					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.896A>G	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626078	0.14257	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.61627	0.09;0.09	5.96	4.89	0.63831	.	0.000000	0.56097	D	0.000023	T	0.73536	0.3599	M	0.73962	2.25	0.37904	D	0.931149	B;D	0.89917	0.36;1.0	B;D	0.97110	0.181;1.0	T	0.78206	-0.2294	10	0.87932	D	0	-19.5048	10.4054	0.44254	0.9256:0.0:0.0744:0.0	.	299;321	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	321;299	ENSP00000335384:Y321C;ENSP00000367174:Y299C	ENSP00000335384:Y321C	Y	+	2	0	ZPBP2	35286533	0.986000	0.35501	0.350000	0.25708	0.502000	0.33828	3.932000	0.56537	1.082000	0.41137	0.533000	0.62120	TAT		0.408	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		154	779	0	0	0	1	0	154	779					G	38033007	A	G	38033007	3	3	79	1	0	0	0	0	1	0	0	0	18273	449	16	4	992	4	ZPBP2	17	38033007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110429	38033007	43162203	17237	27554											
GSDMB	55876	broad.mit.edu	37	chr17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagacaagctgctttactCgatagctcaggacccgattt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394179.1	-	5	753	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000394175.2_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q			Q8TAX9	GSDMB_HUMAN	gasdermin B	208						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(622-624)cGa>cAa		gasdermin B							181	170	174					17																	38065249		2203	4300	6503	SO:0001583	missense	55876					cytoplasm		g.chr17:38065249C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.623G>A	17.37:g.38065249C>T	ENSP00000377733:p.Arg208Gln					GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.R208Q	p.R208Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			4	846	-			208					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37	c.623G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046504|3.046504	0.55110|0.55110	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73	3.13|3.13	1.11|1.11	0.20524|0.20524	.|.	.|0.184561	.|0.25045	.|N	.|0.033565	T|T	0.39784|0.39784	0.1091|0.1091	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;P;P	.|0.89917	.|1.0;1.0;0.772;0.772	.|D;D;B;B	.|0.91635	.|0.999;0.992;0.121;0.121	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.46703	.|T	.|0.11	.|.	5.3822|5.3822	0.16197|0.16197	0.0:0.7316:0.0:0.2684|0.0:0.7316:0.0:0.2684	.|.	.|208;208;208;208	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	K|Q	140|208	.|ENSP00000353465:R208Q;ENSP00000377729:R208Q;ENSP00000312584:R208Q;ENSP00000430157:R208Q;ENSP00000415049:R208Q;ENSP00000377733:R208Q	.|ENSP00000312584:R208Q	E|R	-|-	1|2	0|0	GSDMB|GSDMB	35318775|35318775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-0.139000|-0.139000	0.10358|0.10358	0.347000|0.347000	0.23924|0.23924	0.609000|0.609000	0.83330|0.83330	GAG|CGA		0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		180	771	0	0	0	1	0	180	771					T	38065249	C	T	38065249	3	4	79	1	0	0	0	0	1	0	0	0	6847	884	31	1	655	1	GSDMB	17	38065249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32242	38065249	43129961	17238	27555											
PSMD3	5709	broad.mit.edu	37	chr17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgatgaacagcaagcGctacaaagaggtatccagga	10	9	1	3	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20560	0.0		0.0	False		,,,				2504	0.0				Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(538-540)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	125	117	120		539	5.3	1	17	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSMD3	NM_002809.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	180/535	38142955	3,13003	2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142955G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.539G>A	17.37:g.38142955G>A	ENSP00000264639:p.Arg180His					PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	p.R180H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			3	713	+	Colorectal(19;0.000442)		180					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.539G>A	CCDS11356.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.19	3.051901	0.55218	4.54E-4	1.16E-4	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76709	-1.04;-1.04	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.104781	0.64402	D	0.000005	T	0.69886	0.3161	L	0.31752	0.955	0.58432	D	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.64433	-0.6409	10	0.41790	T	0.15	-5.143	18.687	0.91568	0.0:0.0:1.0:0.0	.	180	O43242	PSMD3_HUMAN	H	180;167;42	ENSP00000264639:R180H;ENSP00000442508:R42H	ENSP00000264639:R180H	R	+	2	0	PSMD3	35396481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.417000	0.73337	2.495000	0.84180	0.462000	0.41574	CGC		0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		112	540	0	0	0	1	0	112	540					A	38142955	G	A	38142955	3	1	79	1	0	0	0	0	1	0	0	0	12746	1087	38	1	549	1	PSMD3	17	38142955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77706	38142955	43052255	17239	27556											
PSMD3	5709	broad.mit.edu	37	chr17	38151281	38151281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagttccgccagccctcCctcaagcgctcactcatgcc	7	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCCAGCCCTCCCTCAAGCGCT	0.602																																					Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1054-1056)tcC>tcT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							93	98	96					17																	38151281		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38151281C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1056C>T	17.37:g.38151281C>T						PSMD3_ENST00000541736.1_Silent_p.S214S	p.S352S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			7	1230	+	Colorectal(19;0.000442)		352					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.1056C>T	CCDS11356.1																																																																																				0.602	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		24	693	0	0	0	1	0	24	693					T	38151281	C	T	38151281	2	4	79	1	0	0	0	0	0	0	0	1	12746	610	22	2		2	PSMD3	17	38151281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8326	38151281	43043929	17240	27557											
MSL1	339287	broad.mit.edu	37	chr17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagcccttctcatgtgGgcggagtggaaagggacata	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	323					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(967-969)gGg>gAg		male-specific lethal 1 homolog (Drosophila)							64	65	65					17																	38282635		1939	4137	6076	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38282635G>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.968G>A	17.37:g.38282635G>A	ENSP00000381543:p.Gly323Glu					MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E	p.G323E			Q68DK7	MSL1_HUMAN			2	1283	+			323					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018305	0.54576	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.89	5.89	0.94794	.	0.136028	0.64402	D	0.000002	T	0.57961	0.2089	N	0.08118	0	0.50313	D	0.999862	D	0.71674	0.998	D	0.64321	0.924	T	0.60786	-0.7194	9	0.32370	T	0.25	-13.4448	19.8722	0.96854	0.0:0.0:1.0:0.0	.	323	Q68DK7	MSL1_HUMAN	E	60;323	.	ENSP00000341409:G60E	G	+	2	0	MSL1	35536161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.496000	0.73670	2.793000	0.96121	0.655000	0.94253	GGG		0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		23	137	0	0	0	1	0	23	137					A	38282635	G	A	38282635	3	1	79	1	0	0	0	0	1	0	0	0	9918	1232	43	2	181	2	MSL1	17	38282635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131354	38282635	42912575	17241	27558											
MSL1	339287	broad.mit.edu	37	chr17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggatgagaagagaaGgaaaaggtgaggccagagat	18	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	517	Interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1549-1551)aGg>aTg		male-specific lethal 1 homolog (Drosophila)							69	71	70					17																	38289356		1969	4164	6133	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289356G>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1550G>T	17.37:g.38289356G>T	ENSP00000381543:p.Arg517Met					MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	p.R517M			Q68DK7	MSL1_HUMAN			6	1865	+			517					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1550G>T		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193403	0.58017	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.62639	0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.63843	1.955	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	8	0.54805	T	0.06	-1.7679	18.5758	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	M	254;517	ENSP00000381543:R517M	ENSP00000341409:R254M	R	+	2	0	MSL1	35542882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.458000	0.97634	2.683000	0.91414	0.655000	0.94253	AGG		0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		12	36	1	0	1.5842e-08	1	1.65642e-08	12	36					T	38289356	G	T	38289356	3	4	79	1	0	0	0	0	1	0	0	0	9918	1000	35	3	779	3	MSL1	17	38289356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	38289356	42905854	17242	27559											
WIPF2	147179	broad.mit.edu	37	chr17	38412732	38412732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaattcctcctcccccGccacccccacctggtcctcc	4	24	0	0	rs573803169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	7	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCTCCCCCGCCACCCCCAC	0.488										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(19-21)ccG>ccA		WAS/WASL interacting protein family, member 2							108	98	101					17																	38412732		2203	4300	6503	SO:0001819	synonymous_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38412732G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.21G>A	17.37:g.38412732G>A		HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P	p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			2	261	+			7			Poly-Pro.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	c.21G>A	CCDS11364.1																																																																																				0.488	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		67	339	0	0	0	1	0	67	339					A	38412732	G	A	38412732	2	1	79	1	0	0	0	0	0	0	0	1	17422	1074	38	1		1	WIPF2	17	38412732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123376	38412732	42782478	17243	27560											
WIPF2	147179	broad.mit.edu	37	chr17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacccacctcggcctcccCatctttactgagtaataggc	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	304					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(910-912)cCa>cTa		WAS/WASL interacting protein family, member 2							49	56	53					17																	38421339		2201	4299	6500	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421339C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.911C>T	17.37:g.38421339C>T	ENSP00000320924:p.Pro304Leu	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L	p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	1151	+			304					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.911C>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190324	0.21954	.	.	ENSG00000171475	ENST00000323571	T	0.33438	1.41	5.82	5.82	0.92795	.	0.125722	0.64402	D	0.000020	T	0.17152	0.0412	N	0.11255	0.115	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.12400	-1.0549	10	0.20046	T	0.44	-7.7117	13.026	0.58814	0.0:0.9261:0.0:0.0739	.	304	Q8TF74	WIPF2_HUMAN	L	304	ENSP00000320924:P304L	ENSP00000320924:P304L	P	+	2	0	WIPF2	35674865	0.776000	0.28616	0.995000	0.50966	0.892000	0.51952	4.679000	0.61649	2.767000	0.95098	0.555000	0.69702	CCA		0.582	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		117	572	0	0	0	1	0	117	572					T	38421339	C	T	38421339	3	4	79	1	0	0	0	0	1	0	0	0	17422	594	21	2	925	2	WIPF2	17	38421339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8607	38421339	42773871	17244	27561											
WIPF2	147179	broad.mit.edu	37	chr17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcccccaccaccataccGaatgcatgggtcagaacccc	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	347					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R347Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCATACCGAATGCATGGG	0.612										HNSCC(43;0.11)																												ENST00000323571.4																			1	Substitution - Missense(1)	p.R347Q(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(1039-1041)cGa>cAa		WAS/WASL interacting protein family, member 2							67	62	64					17																	38430111		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38430111G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1040G>A	17.37:g.38430111G>A	ENSP00000320924:p.Arg347Gln	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q	p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			6	1280	+			347					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.1040G>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627069	0.96671	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.48836	1.27;0.8;0.8	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.69078	0.962;0.997	B;P	0.52598	0.194;0.703	T	0.52859	-0.8519	10	0.30854	T	0.27	-6.6071	18.9492	0.92635	0.0:0.0:1.0:0.0	.	89;347	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Q	347;89;89	ENSP00000320924:R347Q;ENSP00000377663:R89Q;ENSP00000439175:R89Q	ENSP00000320924:R347Q	R	+	2	0	WIPF2	35683637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.554000	0.67294	2.646000	0.89796	0.561000	0.74099	CGA		0.612	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		24	375	0	0	0	1	0	24	375					A	38430111	G	A	38430111	3	1	79	1	0	0	0	0	1	0	0	0	17422	1058	37	1	1058	1	WIPF2	17	38430111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8772	38430111	42765099	17245	27562											
CDC6	990	broad.mit.edu	37	chr17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctcaaacccgatcccaGgcacaggctacaatcagttt	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	7					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(19-21)caG>caT		cell division cycle 6							77	77	77					17																	38445693		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38445693G>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.21G>T	17.37:g.38445693G>T	ENSP00000209728:p.Gln7His						p.Q7H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			2	492	+			7					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.21G>T	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256689	0.80246	.	.	ENSG00000094804	ENST00000209728	T	0.59083	0.29	4.72	2.68	0.31781	.	0.129524	0.53938	D	0.000050	T	0.67933	0.2946	M	0.71581	2.175	0.39861	D	0.973386	D	0.67145	0.996	P	0.61328	0.887	T	0.69285	-0.5185	10	0.39692	T	0.17	-22.1046	10.5158	0.44889	0.1665:0.0:0.8335:0.0	.	7	Q99741	CDC6_HUMAN	H	7	ENSP00000209728:Q7H	ENSP00000209728:Q7H	Q	+	3	2	CDC6	35699219	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	3.099000	0.50267	1.212000	0.43366	0.557000	0.71058	CAG		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			30	312	1	0	4.2108e-06	1	4.33155e-06	30	312					T	38445693	G	T	38445693	3	4	79	1	0	0	0	0	1	0	0	0	3092	991	35	3	23	3	CDC6	17	38445693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15582	38445693	42749517	17246	27563											
IGFBP4	3487	broad.mit.edu	37	chr17	38610230	38610230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgctggagcggctggcCgcttcacagagccgcaccca	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	186	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(556-558)gcC>gcT		insulin-like growth factor binding protein 4							67	67	67					17																	38610230		2203	4300	6503	SO:0001819	synonymous_variant	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610230C>T	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.558C>T	17.37:g.38610230C>T						IGFBP4_ENST00000542955.1_Silent_p.A86A	p.A186A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	833	+		Breast(137;0.000496)	186			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	37	c.558C>T	CCDS11367.1																																																																																				0.642	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		93	512	0	0	0	1	0	93	512					T	38610230	C	T	38610230	2	4	79	1	0	0	0	0	0	0	0	1	7611	639	23	1		1	IGFBP4	17	38610230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164537	38610230	42584980	17247	27564											
CCR7	1236	broad.mit.edu	37	chr17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagagagcatcgcatcGcttgctcactgctgctcctc	10	13	1	3	rs141181444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		22267	0.0		0.001	False		,,,				2504	0.0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(619-621)gCg>gTg		chemokine (C-C motif) receptor 7							73	63	66					17																	38711511		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711511G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.620C>T	17.37:g.38711511G>A	ENSP00000246657:p.Ala207Val					CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	p.A207V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	682	-		Breast(137;0.000496)	207						Missense_Mutation	SNP	ENST00000246657.2	37	c.620C>T	CCDS11369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.122	-0.655134	0.03480	.	.	ENSG00000126353	ENST00000246657	T	0.36157	1.27	4.45	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	2.531820	0.01360	N	0.012206	T	0.13970	0.0338	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	7.2012	0.25881	0.1594:0.0:0.6936:0.147	.	207	P32248	CCR7_HUMAN	V	207	ENSP00000246657:A207V	ENSP00000246657:A207V	A	-	2	0	CCR7	35965037	0.006000	0.16342	0.001000	0.08648	0.204000	0.24138	1.560000	0.36331	0.820000	0.34516	0.561000	0.74099	GCG		0.572	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			30	144	0	0	0	1	0	30	144					A	38711511	G	A	38711511	3	1	79	1	0	0	0	0	1	0	0	0	2955	1087	38	1	520	1	CCR7	17	38711511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101281	38711511	42483699	17248	27565											
KRT25	147183	broad.mit.edu	37	chr17	38910676	38910676	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtaagcctggcattatcGatctgcagaacagcattagc	10	10	1	1	rs146092638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20520	0.0		0.0	False		,,,				2504	0.0					ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(472-474)atC>atT		keratin 25							137	130	133					17																	38910676		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910676G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.474C>T	17.37:g.38910676G>A							p.I158I	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			2	534	-		Breast(137;0.00526)	158			Coil 1B.|Rod.			Silent	SNP	ENST00000312150.4	37	c.474C>T	CCDS11373.1																																																																																				0.388	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		81	334	0	0	0	1	0	81	334					A	38910676	G	A	38910676	2	1	79	1	0	0	0	0	0	0	0	1	8492	1048	37	1		1	KRT25	17	38910676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199165	38910676	42284534	17249	27566											
KRT27	342574	broad.mit.edu	37	chr17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgctcatactcgagCttctggccctcggtctcggt	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1102-1104)aaG>aaT		keratin 27							154	154	154					17																	38933853		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933853C>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1104G>T	17.37:g.38933853C>A	ENSP00000301656:p.Lys368Asn					KRT27_ENST00000540723.1_5'UTR	p.K368N	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			6	1144	-		Breast(137;0.000812)	368			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1104G>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	1.307	-0.603277	0.03744	.	.	ENSG00000171446	ENST00000301656	D	0.88046	-2.33	5.56	-6.61	0.01818	Filament (1);	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	N	0.03000	-0.44	0.09310	N	0.999994	B	0.22080	0.064	B	0.26614	0.071	T	0.58951	-0.7545	10	0.02654	T	1	.	13.8548	0.63519	0.0:0.615:0.136:0.2491	.	368	Q7Z3Y8	K1C27_HUMAN	N	368	ENSP00000301656:K368N	ENSP00000301656:K368N	K	-	3	2	KRT27	36187379	0.000000	0.05858	0.846000	0.33378	0.839000	0.47603	-2.826000	0.00746	-1.254000	0.02485	-0.145000	0.13849	AAG		0.557	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		101	1026	1	0	1.15773e-35	1	1.38295e-35	101	1026					A	38933853	C	A	38933853	3	1	79	1	0	0	0	0	1	0	0	0	8494	796	28	3	287	3	KRT27	17	38933853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23177	38933853	42261357	17250	27567											
KRT28	162605	broad.mit.edu	37	chr17	38949454	38949454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaaagccctttgatttgGagcatgaactgtaaaagaaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38949454G>A	ENST00000306658.7	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTTTGATTTGGAGCATGAACT	0.284																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1204-1206)tCc>tTc		keratin 28							25	26	25					17																	38949454		2196	4299	6495	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38949454G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1205C>T	17.37:g.38949454G>A	ENSP00000305263:p.Ser402Phe						p.S402F	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			7	1270	-		Breast(137;0.000301)	402			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1205C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929205	0.34096	.	.	ENSG00000173908	ENST00000306658	D	0.83673	-1.75	5.35	5.35	0.76521	.	0.222774	0.32231	N	0.006397	T	0.66208	0.2766	N	0.08118	0	0.36858	D	0.888237	B	0.06786	0.001	B	0.09377	0.004	T	0.64123	-0.6481	10	0.12103	T	0.63	.	14.4247	0.67207	0.0:0.0:1.0:0.0	.	402	Q7Z3Y7	K1C28_HUMAN	F	402	ENSP00000305263:S402F	ENSP00000305263:S402F	S	-	2	0	KRT28	36202980	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.153000	0.50685	2.777000	0.95525	0.655000	0.94253	TCC		0.284	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		10	51	0	0	0	1	0	10	51					A	38949454	G	A	38949454	3	1	79	1	0	0	0	0	1	0	0	0	8495	1174	41	2	197	2	KRT28	17	38949454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15601	38949454	42245756	17251	27568											
KRT12	3859	broad.mit.edu	37	chr17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagctgcgcgcagtaatCgccctcggcttcggccaagg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	379	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GCGCAGTAATCGCCCTCGGCT	0.607																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1135-1137)Gat>Aat		keratin 12							21	19	20					17																	39019556		2200	4290	6490	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019556C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1135G>A	17.37:g.39019556C>T	ENSP00000251643:p.Asp379Asn						p.D379N	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			6	1158	-		Breast(137;0.000301)	379			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1135G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805382	0.16467	.	.	ENSG00000187242	ENST00000251643	D	0.88509	-2.39	5.05	4.06	0.47325	Filament (1);	0.524332	0.17399	N	0.175640	T	0.70745	0.3259	N	0.02412	-0.56	0.09310	N	1	P	0.36249	0.545	B	0.24701	0.055	T	0.60203	-0.7309	10	0.21014	T	0.42	.	14.833	0.70162	0.0:0.5953:0.4047:0.0	.	379	Q99456	K1C12_HUMAN	N	379	ENSP00000251643:D379N	ENSP00000251643:D379N	D	-	1	0	KRT12	36273082	0.006000	0.16342	0.348000	0.25681	0.961000	0.63080	0.930000	0.28858	1.328000	0.45358	0.491000	0.48974	GAT		0.607	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		20	130	0	0	0	1	0	20	130					T	39019556	C	T	39019556	3	4	79	1	0	0	0	0	1	0	0	0	8479	884	31	1	361	1	KRT12	17	39019556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70102	39019556	42175654	17252	27569											
KRT12	3859	broad.mit.edu	37	chr17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccagttcctcgtgtTtcataccattctcgaatttt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	162	Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TTCCTCGTGTTTCATACCATT	0.403																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(484-486)gaA>gaT		keratin 12							126	126	126					17																	39022953		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39022953T>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.486A>T	17.37:g.39022953T>A	ENSP00000251643:p.Glu162Asp						p.E162D	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			1	509	-		Breast(137;0.000301)	162			Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.486A>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931852	0.52866	.	.	ENSG00000187242	ENST00000251643	D	0.89746	-2.56	5.91	4.83	0.62350	Filament (1);	0.000000	0.52532	D	0.000069	D	0.82815	0.5119	L	0.38175	1.15	0.37705	D	0.924361	P	0.36974	0.576	B	0.37239	0.244	T	0.82236	-0.0557	10	0.45353	T	0.12	.	8.9766	0.35939	0.0:0.2028:0.0:0.7972	.	162	Q99456	K1C12_HUMAN	D	162	ENSP00000251643:E162D	ENSP00000251643:E162D	E	-	3	2	KRT12	36276479	0.024000	0.19004	0.764000	0.31436	0.882000	0.50991	0.610000	0.24253	1.054000	0.40438	-0.274000	0.10170	GAA		0.403	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		150	630	0	0	0	1	0	150	630					A	39022953	T	A	39022953	3	1	79	1	0	0	0	0	1	0	0	0	8479	1838	64	5	1030	5	KRT12	17	39022953	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3397	39022953	42172257	17253	27570											
KRT20	54474	broad.mit.edu	37	chr17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgaagtcctcagcagCcagtttagcattatcaattt	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	151	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(451-453)Gct>Act		keratin 20							123	112	116					17																	39038846		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39038846C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.451G>A	17.37:g.39038846C>T	ENSP00000167588:p.Ala151Thr						p.A151T	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			2	492	-		Breast(137;0.000301)|Ovarian(249;0.15)	151			Coil 1B.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.451G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812948	0.70912	.	.	ENSG00000171431	ENST00000167588	D	0.89270	-2.49	5.33	2.25	0.28309	Filament (1);	0.101974	0.42682	D	0.000662	D	0.87374	0.6161	L	0.59912	1.85	0.38839	D	0.956026	P	0.34934	0.476	B	0.42138	0.377	D	0.86327	0.1696	10	0.42905	T	0.14	.	10.4064	0.44260	0.0:0.7883:0.0:0.2117	.	151	P35900	K1C20_HUMAN	T	151	ENSP00000167588:A151T	ENSP00000167588:A151T	A	-	1	0	KRT20	36292372	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.484000	0.53201	1.245000	0.43885	0.557000	0.71058	GCT		0.378	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			82	357	0	0	0	1	0	82	357					T	39038846	C	T	39038846	3	4	79	1	0	0	0	0	1	0	0	0	8488	739	26	2	851	2	KRT20	17	39038846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15893	39038846	42156364	17254	27571											
KRT39	390792	broad.mit.edu	37	chr17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtagatgggcttgcgaCaaaagcgaggagtgggttgg	18	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	66	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(196-198)tGt>tAt		keratin 39							194	195	195					17																	39122912		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122912C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.197G>A	17.37:g.39122912C>T	ENSP00000347823:p.Cys66Tyr					AC004231.2_ENST00000418393.1_RNA	p.C66Y	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	232	-		Breast(137;0.00043)|Ovarian(249;0.15)	66			Head.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.197G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765290	0.15914	.	.	ENSG00000196859	ENST00000355612	D	0.83755	-1.76	5.75	-2.35	0.06684	.	0.469201	0.18379	N	0.143013	T	0.56761	0.2007	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.44251	-0.9340	10	0.41790	T	0.15	.	1.8678	0.03202	0.1305:0.3436:0.1291:0.3967	.	66	Q6A163	K1C39_HUMAN	Y	66	ENSP00000347823:C66Y	ENSP00000347823:C66Y	C	-	2	0	KRT39	36376438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.196000	0.10366	-0.142000	0.14014	TGT		0.527	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		76	944	0	0	0	1	0	76	944					T	39122912	C	T	39122912	3	4	79	1	0	0	0	0	1	0	0	0	8506	478	17	2	1306	2	KRT39	17	39122912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84066	39122912	42072298	17255	27572											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254083	39254083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcagcaggtgggctggCagcacacagactggcagcac	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39254083C>T	ENST00000333822.4	-	1	310	c.254G>A	c.(253-255)tGc>tAc	p.C85Y		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	85	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGTGGGCTGGCAGCACACAGA	0.667																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(253-255)tGc>tAc		keratin associated protein 4-8							7	11	10					17																	39254083		682	1566	2248	SO:0001583	missense	728224					keratin filament		g.chr17:39254083C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.254G>A	17.37:g.39254083C>T	ENSP00000328444:p.Cys85Tyr						p.C85Y	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	310	-			85			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.254G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.776834	0.49786	.	.	ENSG00000204880	ENST00000333822	T	0.03242	4.0	2.17	1.09	0.20402	.	.	.	.	.	T	0.16854	0.0405	M	0.89478	3.035	0.22701	N	0.99884	D	0.71674	0.998	D	0.67231	0.95	T	0.04165	-1.0972	9	0.72032	D	0.01	.	6.753	0.23497	0.0:0.7034:0.2966:0.0	.	85	Q9BYQ9	KRA48_HUMAN	Y	85	ENSP00000328444:C85Y	ENSP00000328444:C85Y	C	-	2	0	KRTAP4-8	36507609	0.200000	0.23398	0.023000	0.16930	0.948000	0.59901	0.814000	0.27239	0.033000	0.15463	0.383000	0.25322	TGC		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		8	346	0	0	0	1	0	8	346					T	39254083	C	T	39254083	3	4	79	1	0	0	0	0	1	0	0	0	8587	710	25	2	307	2	KRTAP4-8	17	39254083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131171	39254083	41941127	17256	27573											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261692	39261692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaccagggctgcggccaaGacctctgtcaggagacctgc	13	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39261692G>T	ENST00000391415.1	+	1	109	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTGCGGCCAAGACCTCTGTCA	0.627																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)Gac>Tac		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39261692G>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.52G>T	17.37:g.39261692G>T	ENSP00000375234:p.Asp18Tyr						p.D18Y	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	109	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.52G>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.570	0.473428	0.12521	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32753	1.44	2.51	1.5	0.22942	.	.	.	.	.	T	0.24624	0.0597	M	0.64404	1.975	0.18873	N	0.999982	P	0.34639	0.461	B	0.26202	0.067	T	0.23332	-1.0191	9	0.72032	D	0.01	.	4.0342	0.09722	0.1555:0.2448:0.5997:0.0	.	18	Q9BYQ8	KRA49_HUMAN	Y	18	ENSP00000375234:D18Y	ENSP00000334461:D18Y	D	+	1	0	KRTAP4-9	36515218	0.000000	0.05858	0.616000	0.29078	0.307000	0.27823	0.520000	0.22878	0.163000	0.19507	0.184000	0.17185	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		56	196	1	0	4.65455e-14	1	5.0448e-14	56	196					T	39261692	G	T	39261692	3	4	79	1	0	0	0	0	1	0	0	0	8588	942	33	3	54	3	KRTAP4-9	17	39261692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7609	39261692	41933518	17257	27574											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262171	39262171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctgctgctgcgtgcgTccagtctgtggccgagtctc	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262171T>C	ENST00000391415.1	+	1	588	c.531T>C	c.(529-531)cgT>cgC	p.R177R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	177	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgcGTGCGTCCAGTCTGTG	0.662																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(529-531)cgT>cgC		keratin associated protein 4-9							32	36	35					17																	39262171		692	1590	2282	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262171T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.531T>C	17.37:g.39262171T>C							p.R177R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	588	+			177			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.531T>C	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		11	61	0	0	0	1	0	11	61					C	39262171	T	C	39262171	2	2	79	1	0	0	0	0	0	0	0	1	8588	1654	58	4		4	KRTAP4-9	17	39262171	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	479	39262171	41933039	17258	27575											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262207	39262207	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctgccacaccacttgCtatcgcccaacctgtgtcat	6	17	2	0	rs558806526		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262207C>A	ENST00000391415.1	+	1	624	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	189					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACACCACTTGCTATCGCCCAA	0.647																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(565-567)tgC>tgA		keratin associated protein 4-9							53	57	56					17																	39262207		692	1590	2282	SO:0001587	stop_gained	100132386					keratin filament		g.chr17:39262207C>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.567C>A	17.37:g.39262207C>A	ENSP00000375234:p.Cys189*						p.C189*	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	624	+			189						Nonsense_Mutation	SNP	ENST00000391415.1	37	c.567C>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.429188	0.43122	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	.	.	.	2.64	2.64	0.31445	.	0.553736	0.13448	U	0.387151	.	.	.	.	.	.	0.49130	D	0.999756	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0487	0.47874	0.0:1.0:0.0:0.0	.	.	.	.	X	177;189;180	.	ENSP00000334461:C180X	C	+	3	2	KRTAP4-9	36515733	0.999000	0.42202	1.000000	0.80357	0.350000	0.29205	1.061000	0.30542	1.489000	0.48450	0.194000	0.17425	TGC		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	50	1	0	0.0293803	1	0.0294705	7	50					A	39262207	C	A	39262207	4	1	79	1	0	0	0	0	0	1	0	0	8588	805	28	3	569	3	KRTAP4-9	17	39262207	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	39262207	41933003	17259	27576											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggacacacagcagctgGggcagcagcaggtggtcctg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	98	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(292-294)cCc>cTc		keratin associated protein 4-5							20	25	23					17																	39305727		2170	4246	6416	SO:0001583	missense	85289					keratin filament		g.chr17:39305727G>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.293C>T	17.37:g.39305727G>A	ENSP00000340546:p.Pro98Leu						p.P98L	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	327	-		Breast(137;0.000496)	103			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.293C>T	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941052	0.53079	.	.	ENSG00000198271	ENST00000343246	T	0.02216	4.39	4.08	4.08	0.47627	.	0.729752	0.11113	U	0.598308	T	0.13500	0.0327	M	0.92367	3.3	0.22034	N	0.999404	P	0.48089	0.905	P	0.52823	0.71	T	0.04664	-1.0935	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.0:1.0:0.0	.	103	Q9BYR2	KRA45_HUMAN	L	98	ENSP00000340546:P98L	ENSP00000340546:P98L	P	-	2	0	KRTAP4-5	36559253	0.994000	0.37717	0.084000	0.20598	0.608000	0.37181	2.373000	0.44266	2.243000	0.73865	0.561000	0.74099	CCC		0.662	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			9	289	0	0	0	1	0	9	289					A	39305727	G	A	39305727	3	1	79	1	0	0	0	0	1	0	0	0	8585	1232	43	2	256	2	KRTAP4-5	17	39305727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43520	39305727	41889483	17260	27577											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtggcagcaggtgggCtggtagcacacagactggca	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	52	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(154-156)caG>caT		keratin associated protein 4-5							23	26	25					17																	39305864		2180	4267	6447	SO:0001583	missense	85289					keratin filament		g.chr17:39305864C>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.156G>T	17.37:g.39305864C>A	ENSP00000340546:p.Gln52His						p.Q52H	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	52			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.156G>T	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.649	0.682408	0.14907	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	4.12	2.03	0.26663	.	0.609345	0.11953	U	0.513531	T	0.02047	0.0064	M	0.77406	2.37	0.09310	N	0.999999	D	0.65815	0.995	D	0.68353	0.957	T	0.45145	-0.9281	10	0.52906	T	0.07	.	6.334	0.21287	0.1868:0.7083:0.0:0.1048	.	52	Q9BYR2	KRA45_HUMAN	H	52	ENSP00000340546:Q52H	ENSP00000340546:Q52H	Q	-	3	2	KRTAP4-5	36559390	0.000000	0.05858	0.684000	0.30055	0.120000	0.20174	-0.593000	0.05740	0.987000	0.38709	0.655000	0.94253	CAG		0.672	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			59	264	1	0	1.1362e-29	1	1.32843e-29	59	264					A	39305864	C	A	39305864	3	1	79	1	0	0	0	0	1	0	0	0	8585	796	28	3	393	3	KRTAP4-5	17	39305864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	39305864	41889346	17261	27578											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39411913	39411913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggtccagctgctgtggCcaaaccagctgtgggtccag	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	77	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(274-276)ggC>ggT		keratin associated protein 9-9							60	62	62					17																	39411913		2203	4299	6502	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411913C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.276C>T	17.37:g.39411913C>T							p.G92G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	278	+		Breast(137;0.000496)	92					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.276C>T	CCDS54127.1																																																																																				0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		9	539	0	0	0	1	0	9	539					T	39411913	C	T	39411913	2	4	79	1	0	0	0	0	0	0	0	1	8608	726	26	2		2	KRTAP9-9	17	39411913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106049	39411913	41783297	17262	27579											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471738	39471738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagatccacagcaagaCgatccgcagcagctgccccc	9	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	ENST00000334202.3	-	1	209	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	55						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaagacgatccgcagc	0.706																																						ENST00000334202.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(163-165)tcG>tcA		keratin associated protein 17-1							17	24	22					17																	39471738		2187	4273	6460	SO:0001819	synonymous_variant	83902					intermediate filament		g.chr17:39471738C>T	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"Keratin associated proteins"	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.165G>A	17.37:g.39471738C>T							p.S55S	NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	209	-		Breast(137;0.000496)	55						Silent	SNP	ENST00000334202.3	37	c.165G>A	CCDS11387.1																																																																																				0.706	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			16	72	0	0	0	1	0	16	72					T	39471738	C	T	39471738	2	4	79	1	0	0	0	0	0	0	0	1	8557	523	19	1		1	KRTAP17-1	17	39471738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59825	39471738	41723472	17263	27580											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(742-744)Gcc>Acc		keratin 33A							65	59	61					17																	39503321		2203	4296	6499	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr						p.A248T	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			4	786	-		Breast(137;0.000496)	248			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.742G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		29	286	0	0	0	1	0	29	286					T	39503321	C	T	39503321	3	4	79	1	0	0	0	0	1	0	0	0	8499	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31583	39503321	41691889	17264	27581											
KRT34	3885	broad.mit.edu	37	chr17	39538384	39538384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcagttgctcacattggCggggatgttgcaggccccag	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538384C>T	ENST00000394001.1	-	1	271	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	81	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCACATTGGCGGGGATGTTG	0.652																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(241-243)Gcc>Acc		keratin 34							78	75	76					17																	39538384		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538384C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.241G>A	17.37:g.39538384C>T	ENSP00000377570:p.Ala81Thr						p.A81T	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	271	-		Breast(137;0.000496)	81			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.241G>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.027008	0.35797	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.46288	0.1385	L	0.39245	1.2	0.31342	N	0.68358	B	0.20550	0.046	B	0.16722	0.016	T	0.53954	-0.8365	9	0.72032	D	0.01	.	14.5202	0.67844	0.1472:0.8528:0.0:0.0	.	81	O76011	KRT34_HUMAN	T	39;81	.	ENSP00000251648:A81T	A	-	1	0	KRT34	36791910	0.896000	0.30565	0.993000	0.49108	0.256000	0.26092	1.529000	0.35996	2.780000	0.95670	0.563000	0.77884	GCC		0.652	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		114	522	0	0	0	1	0	114	522					T	39538384	C	T	39538384	3	4	79	1	0	0	0	0	1	0	0	0	8501	768	27	1	1097	1	KRT34	17	39538384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35063	39538384	41656826	17265	27582											
KRT34	3885	broad.mit.edu	37	chr17	39538461	39538461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggaggagcagctggtgCggcagcccaggctgggcagg	21	11	0	0	rs139913573	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538461C>T	ENST00000394001.1	-	1	194	c.164G>A	c.(163-165)cGc>cAc	p.R55H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	55	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R55H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCCCAG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		15126	0.001		0.0	False		,,,				2504	0.001					ENST00000394001.1																			1	Substitution - Missense(1)	p.R55H(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(163-165)cGc>cAc		keratin 34		C	HIS/ARG	0,4406		0,0,2203	50	48	49		164	1.2	1	17	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT34	NM_021013.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	55/437	39538461	1,13005	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538461C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.164G>A	17.37:g.39538461C>T	ENSP00000377570:p.Arg55His						p.R55H	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	194	-		Breast(137;0.000496)	55			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.164G>A	CCDS11390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.27	2.188524	0.38609	0.0	1.16E-4	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	1.16	0.20824	.	0.094893	0.47455	N	0.000233	T	0.33847	0.0877	L	0.32530	0.975	0.27611	N	0.948664	B	0.17667	0.023	B	0.09377	0.004	T	0.27739	-1.0065	9	0.45353	T	0.12	.	11.1857	0.48655	0.0:0.6975:0.0:0.3025	.	55	O76011	KRT34_HUMAN	H	13;55	.	ENSP00000251648:R55H	R	-	2	0	KRT34	36791987	0.003000	0.15002	1.000000	0.80357	0.929000	0.56500	-0.074000	0.11450	0.402000	0.25451	-0.251000	0.11542	CGC		0.627	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		89	388	0	0	0	1	0	89	388					T	39538461	C	T	39538461	3	4	79	1	0	0	0	0	1	0	0	0	8501	768	27	1	1174	1	KRT34	17	39538461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	39538461	41656749	17266	27583											
KRT31	3881	broad.mit.edu	37	chr17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcgtgttttccagagagtCtcgctgtggtggagaagatt	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	294	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAGAGAGTCTCGCTGTGGT	0.547																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(880-882)Gac>Aac		keratin 31							50	49	49					17																	39551317		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551317C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.880G>A	17.37:g.39551317C>T	ENSP00000251645:p.Asp294Asn						p.D294N	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			6	932	-		Breast(137;0.000496)	294			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.880G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057790	0.19907	.	.	ENSG00000094796	ENST00000251645	D	0.89123	-2.47	5.62	-0.748	0.11087	Filament (1);	0.271361	0.32671	N	0.005792	T	0.77452	0.4132	N	0.25144	0.715	0.21355	N	0.999718	B	0.02656	0.0	B	0.04013	0.001	T	0.62172	-0.6910	10	0.24483	T	0.36	.	9.9863	0.41843	0.0:0.3794:0.0:0.6206	.	294	Q15323	K1H1_HUMAN	N	294	ENSP00000251645:D294N	ENSP00000251645:D294N	D	-	1	0	KRT31	36804843	0.000000	0.05858	0.865000	0.33974	0.439000	0.31926	-0.763000	0.04740	0.100000	0.17581	-0.355000	0.07637	GAC		0.547	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		52	211	0	0	0	1	0	52	211					T	39551317	C	T	39551317	3	4	79	1	0	0	0	0	1	0	0	0	8497	913	32	2	378	2	KRT31	17	39551317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12856	39551317	41643893	17267	27584											
KRT38	8687	broad.mit.edu	37	chr17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcctcatactgagcccGcatctcccccagcaccctgt	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	277	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(829-831)Cgg>Tgg		keratin 38							142	136	138					17																	39595014		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595014G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.829C>T	17.37:g.39595014G>A	ENSP00000246646:p.Arg277Trp						p.R277W	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			4	828	-		Breast(137;0.000496)	277			Coil 2.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.829C>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946566	0.34377	.	.	ENSG00000171360	ENST00000246646	D	0.93488	-3.23	4.27	-4.06	0.03986	Filament (1);	0.000000	0.44902	D	0.000401	D	0.92028	0.7474	M	0.92077	3.27	0.37369	D	0.911553	P	0.38767	0.646	B	0.35510	0.204	D	0.87499	0.2432	10	0.87932	D	0	.	8.7404	0.34554	0.1057:0.0:0.2405:0.6538	.	277	O76015	KRT38_HUMAN	W	277	ENSP00000246646:R277W	ENSP00000246646:R277W	R	-	1	2	KRT38	36848540	0.000000	0.05858	0.927000	0.36925	0.624000	0.37722	-1.242000	0.02908	-0.355000	0.08199	-0.410000	0.06199	CGG		0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		119	504	0	0	0	1	0	119	504					A	39595014	G	A	39595014	3	1	79	1	0	0	0	0	1	0	0	0	8505	1086	38	1	557	1	KRT38	17	39595014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43697	39595014	41600196	17268	27585											
KRT13	3860	broad.mit.edu	37	chr17	39659314	39659314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatccatctccacgttgaCctggccgaccacctggttgc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39659314C>T	ENST00000246635.3	-	4	818	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.V258I|KRT13_ENST00000336861.3_Missense_Mutation_p.V258I|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	258	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCACGTTGACCTGGCCGACC	0.592																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(772-774)Gtc>Atc		keratin 13							222	213	216					17																	39659314		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659314C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.772G>A	17.37:g.39659314C>T	ENSP00000246635:p.Val258Ile					KRT13_ENST00000336861.3_Missense_Mutation_p.V258I|KRT13_ENST00000587544.1_Missense_Mutation_p.V258I	p.V258I	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			4	818	-		Breast(137;0.000286)	258			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.772G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750126	0.69533	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.77620	-1.11;-1.11	4.32	4.32	0.51571	Filament (1);	0.000000	0.40818	N	0.001011	D	0.84092	0.5396	M	0.72894	2.215	0.48571	D	0.999675	P;P;P;P	0.40376	0.458;0.715;0.668;0.715	P;P;P;P	0.51415	0.54;0.669;0.54;0.669	D	0.85052	0.0929	10	0.48119	T	0.1	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	246;258;258;258	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	I	258;258;246	ENSP00000246635:V258I;ENSP00000336604:V258I	ENSP00000157775:V246I	V	-	1	0	KRT13	36912840	0.997000	0.39634	1.000000	0.80357	0.673000	0.39480	3.605000	0.54088	2.401000	0.81631	0.561000	0.74099	GTC		0.592	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		22	1723	0	0	0	1	0	22	1723					T	39659314	C	T	39659314	3	4	79	1	0	0	0	0	1	0	0	0	8480	507	18	2	624	2	KRT13	17	39659314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64300	39659314	41535896	17269	27586											
KRT15	3866	broad.mit.edu	37	chr17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctgcgtggcatagCggcactctgtctcggccagt	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	356	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1066-1068)cGc>cAc		keratin 15							67	60	62					17																	39671904		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39671904C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1067G>A	17.37:g.39671904C>T	ENSP00000254043:p.Arg356His					KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	p.R356H	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			6	4652	-		Breast(137;0.000286)	356			Coil 2.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.1067G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624215	0.87560	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	4.74	4.74	0.60224	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95277	0.8468	M	0.85945	2.785	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.97110	1.0;0.749;0.749	D	0.95576	0.8642	10	0.72032	D	0.01	.	13.3192	0.60424	0.0:0.9218:0.0:0.0782	.	191;356;356	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	356;191;356;191;191	ENSP00000254043:R356H;ENSP00000377544:R191H;ENSP00000377546:R356H;ENSP00000377550:R191H;ENSP00000409282:R191H	ENSP00000254043:R356H	R	-	2	0	KRT15	36925430	0.636000	0.27207	1.000000	0.80357	0.966000	0.64601	3.180000	0.50895	2.447000	0.82792	0.655000	0.94253	CGC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		71	314	0	0	0	1	0	71	314					T	39671904	C	T	39671904	3	4	79	1	0	0	0	0	1	0	0	0	8482	768	27	1	315	1	KRT15	17	39671904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12590	39671904	41523306	17270	27587											
KRT15	3866	broad.mit.edu	37	chr17	39674821	39674821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccaccaccaaaaccccCaccaacgccccctccaaagc	3	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	ENST00000254043.3	-	1	3844	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	87	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ccaaaacccccaccaacgccc	0.577																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(259-261)Ggg>Tgg		keratin 15							280	270	273					17																	39674821		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39674821C>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.259G>T	17.37:g.39674821C>A	ENSP00000254043:p.Gly87Trp					KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	p.G87W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	3844	-		Breast(137;0.000286)	87			Gly-rich.|Head.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.259G>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623418	0.14193	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86562	-2.14;-2.14	4.27	4.27	0.50696	.	0.000000	0.40640	N	0.001046	D	0.91106	0.7200	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.90334	0.4354	10	0.38643	T	0.18	.	15.9817	0.80114	0.0:1.0:0.0:0.0	.	87	P19012	K1C15_HUMAN	W	87	ENSP00000254043:G87W;ENSP00000377546:G87W	ENSP00000254043:G87W	G	-	1	0	KRT15	36928347	0.007000	0.16637	0.669000	0.29828	0.037000	0.13140	0.834000	0.27518	2.393000	0.81446	0.511000	0.50034	GGG		0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		153	526	1	0	3.14265e-60	1	3.95137e-60	153	526					A	39674821	C	A	39674821	3	1	79	1	0	0	0	0	1	0	0	0	8482	594	21	3	1143	3	KRT15	17	39674821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2917	39674821	41520389	17271	27588											
KRT15	3866	broad.mit.edu	37	chr17	39675024	39675024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaggagggaaccccctCgggttgagccacccccaaag	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39675024C>T	ENST00000254043.3	-	1	3641	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	19	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGAACCCCCTCGGGTTGAGCC	0.582																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(55-57)cGa>cAa		keratin 15							55	68	64					17																	39675024		2201	4295	6496	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39675024C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.56G>A	17.37:g.39675024C>T	ENSP00000254043:p.Arg19Gln					KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	p.R19Q	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	3641	-		Breast(137;0.000286)	19			Gly-rich.|Head.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.56G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	6.833	0.522964	0.13066	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86366	-2.11;-2.11	4.79	4.79	0.61399	.	0.216324	0.23268	N	0.050055	T	0.66499	0.2795	N	0.08118	0	0.22468	N	0.999073	P	0.45428	0.858	B	0.29176	0.099	T	0.60525	-0.7246	10	0.17369	T	0.5	.	10.7105	0.45980	0.2441:0.7559:0.0:0.0	.	19	P19012	K1C15_HUMAN	Q	19	ENSP00000254043:R19Q;ENSP00000377546:R19Q	ENSP00000254043:R19Q	R	-	2	0	KRT15	36928550	0.000000	0.05858	0.061000	0.19648	0.076000	0.17211	-0.055000	0.11807	2.508000	0.84585	0.511000	0.50034	CGA		0.582	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		17	694	0	0	0	1	0	17	694					T	39675024	C	T	39675024	3	4	79	1	0	0	0	0	1	0	0	0	8482	884	31	1	1346	1	KRT15	17	39675024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203	39675024	41520186	17272	27589											
KRT19	3880	broad.mit.edu	37	chr17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctagctcgccgttggccGcctccagggcgcgcaccttg	12	18	1	0	rs533516685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	103	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGTTGGCCGCCTCCAGGGC	0.657																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(307-309)gCg>gTg		keratin 19							51	58	56					17																	39684192		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39684192G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.308C>T	17.37:g.39684192G>A	ENSP00000355124:p.Ala103Val						p.A103V	NM_002276.4	NP_002267.2					1	368	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.308C>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425371	0.62733	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89552	-2.53;-2.53	4.83	-2.78	0.05859	Filament (1);	2.457230	0.01645	N	0.024244	D	0.85535	0.5719	L	0.42632	1.34	0.09310	N	1	P	0.44260	0.83	B	0.37239	0.244	T	0.77362	-0.2616	10	0.66056	D	0.02	.	14.817	0.70041	0.0:0.0657:0.7151:0.2192	.	103	P08727	K1C19_HUMAN	V	103	ENSP00000355124:A103V;ENSP00000408759:A103V	ENSP00000355124:A103V	A	-	2	0	KRT19	36937718	0.000000	0.05858	0.252000	0.24328	0.992000	0.81027	-0.060000	0.11712	-0.783000	0.04534	0.462000	0.41574	GCG		0.657	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		115	591	0	0	0	1	0	115	591					A	39684192	G	A	39684192	3	1	79	1	0	0	0	0	1	0	0	0	8486	1087	38	1	918	1	KRT19	17	39684192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9168	39684192	41511018	17273	27590											
KRT16	3868	broad.mit.edu	37	chr17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccacgttcacatctcCgccggtctgacctctcagag	7	17	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(802-804)Gga>Aga		keratin 16							84	71	75					17																	39767452		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767452C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.802G>A	17.37:g.39767452C>T	ENSP00000301653:p.Gly268Arg						p.G268R	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			4	866	-		Breast(137;0.000307)	268			Linker 12.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.802G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859297	0.51376	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.79	4.79	0.61399	Filament (1);	0.000000	0.52532	D	0.000080	D	0.94414	0.8203	M	0.79258	2.445	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.95138	0.8261	10	0.87932	D	0	.	17.809	0.88610	0.0:1.0:0.0:0.0	.	268	P08779	K1C16_HUMAN	R	268	ENSP00000301653:G268R	ENSP00000301653:G268R	G	-	1	0	KRT16	37020978	1.000000	0.71417	0.913000	0.36048	0.014000	0.08584	7.818000	0.86416	2.371000	0.80710	0.462000	0.41574	GGA		0.592	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		76	355	0	0	0	1	0	76	355					T	39767452	C	T	39767452	3	4	79	1	0	0	0	0	1	0	0	0	8483	661	23	1	639	1	KRT16	17	39767452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83260	39767452	41427758	17274	27591											
KRT16	3868	broad.mit.edu	37	chr17	39768755	39768755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagccgccccccagcccGcaggctcccccagaggagaa	10	20	0	2	rs200450332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(184-186)tgC>tgT		keratin 16							28	35	32					17																	39768755		2179	4266	6445	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768755G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.186C>T	17.37:g.39768755G>A							p.C62C	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	250	-		Breast(137;0.000307)	62			Head.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.186C>T	CCDS11401.1																																																																																				0.692	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		14	90	0	0	0	1	0	14	90					A	39768755	G	A	39768755	2	1	79	1	0	0	0	0	0	0	0	1	8483	1079	38	1		1	KRT16	17	39768755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	39768755	41426455	17275	27592											
KRT17	3872	broad.mit.edu	37	chr17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctgcacgcagtagcggttCtctgtctccgccaggttgcc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000311208.8	-	6	1063	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_ENST00000540235.1_Missense_Mutation_p.E491D	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	332	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTAGCGGTTCTCTGTCTCCG	0.637																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1471-1473)gaG>gaT		junction plakoglobin							49	50	49					17																	39777096		2202	4300	6502	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39777096C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.996G>T	17.37:g.39777096C>A	ENSP00000308452:p.Glu332Asp					KRT17_ENST00000311208.8_Missense_Mutation_p.E332D	p.E491D			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	9	1472	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1473G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076142	0.55646	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91894	-2.93;-2.93	4.0	3.03	0.35002	Filament (1);	0.138484	0.32868	N	0.005548	D	0.93252	0.7850	M	0.86268	2.805	0.23287	N	0.99798	B	0.27823	0.19	B	0.40375	0.327	D	0.88549	0.3115	10	0.72032	D	0.01	.	10.116	0.42591	0.0:0.8399:0.0:0.1601	.	332	Q04695	K1C17_HUMAN	D	332;491	ENSP00000308452:E332D;ENSP00000441751:E491D	ENSP00000441751:E491D	E	-	3	2	JUP;KRT17	37030622	0.006000	0.16342	1.000000	0.80357	0.983000	0.72400	0.138000	0.16016	2.234000	0.73211	0.462000	0.41574	GAG		0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		94	327	1	0	2.1459e-41	1	2.60651e-41	94	327					A	39777096	C	A	39777096	3	1	79	1	0	0	0	0	1	0	0	0	8484	912	32	3	314	3	KRT17	17	39777096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8341	39777096	41418114	17276	27593											
KRT17	3872	broad.mit.edu	37	chr17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcggctcaggtccacgcCtggggcagcgtccatctcca	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000311208.8	-	4	803	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_ENST00000540235.1_Missense_Mutation_p.G405C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	246	Linker 12.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTCCACGCCTGGGGCAGCG	0.567																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1213-1215)Ggc>Tgc		junction plakoglobin							126	102	110					17																	39777943		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39777943C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.736G>T	17.37:g.39777943C>A	ENSP00000308452:p.Gly246Cys					KRT17_ENST00000311208.8_Missense_Mutation_p.G246C	p.G405C			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1212	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1213G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425396	0.43020	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.77358	-1.09;-1.09	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000199	D	0.91556	0.7333	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85779	0.1360	10	0.87932	D	0	.	16.6211	0.84930	0.0:1.0:0.0:0.0	.	246	Q04695	K1C17_HUMAN	C	246;405	ENSP00000308452:G246C;ENSP00000441751:G405C	ENSP00000441751:G405C	G	-	1	0	JUP;KRT17	37031469	0.014000	0.17966	0.702000	0.30337	0.417000	0.31264	1.905000	0.39878	2.214000	0.71695	0.655000	0.94253	GGC		0.567	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		22	531	1	0	1.22574e-08	1	1.28258e-08	22	531					A	39777943	C	A	39777943	3	1	79	1	0	0	0	0	1	0	0	0	8484	681	24	3	582	3	KRT17	17	39777943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	847	39777943	41417267	17277	27594											
GAST	2520	broad.mit.edu	37	chr17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagaagcctatggatggatgGacttcggccgccgcagtgct	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	91					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(271-273)Gac>Tac		gastrin							72	73	73					17																	39872089		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39872089G>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.271G>T	17.37:g.39872089G>T	ENSP00000331358:p.Asp91Tyr					JUP_ENST00000540235.1_Intron	p.D91Y	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	338	+		Breast(137;0.000307)	91					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.271G>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580594	0.46006	.	.	ENSG00000184502	ENST00000329402	T	0.69040	-0.37	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.80924	0.4717	M	0.79475	2.455	0.40748	D	0.982895	D	0.89917	1.0	D	0.97110	1.0	D	0.83801	0.0236	10	0.87932	D	0	-27.5677	13.1178	0.59309	0.0:0.0:1.0:0.0	.	91	P01350	GAST_HUMAN	Y	91	ENSP00000331358:D91Y	ENSP00000331358:D91Y	D	+	1	0	GAST	37125615	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.178000	0.58284	2.455000	0.83008	0.655000	0.94253	GAC		0.572	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			94	401	1	0	9.15355e-43	1	1.11544e-42	94	401					T	39872089	G	T	39872089	3	4	79	1	0	0	0	0	1	0	0	0	6280	1174	41	3	277	3	GAST	17	39872089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94146	39872089	41323121	17278	27595											
HAP1	9001	broad.mit.edu	37	chr17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccatcaccccttcctcaGccggcaccttcttggcagcc	6	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000310778.5	-	12	1730	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|HAP1_ENST00000393939.2_Missense_Mutation_p.A497D|HAP1_ENST00000347901.4_Missense_Mutation_p.A522D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	574	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632																																						ENST00000393939.2																			1	Substitution - Missense(1)	p.A522G(1)	ovary(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1489-1491)gCt>gAt		huntingtin-associated protein 1							236	228	231					17																	39881248		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881248G>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1721C>A	17.37:g.39881248G>T	ENSP00000309392:p.Ala574Asp					HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000310778.5_Missense_Mutation_p.A574D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|JUP_ENST00000540235.1_Intron	p.A497D			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1499	-		Breast(137;0.000162)	557			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1490C>A		.	.	.	.	.	.	.	.	.	.	G	16.54	3.153146	0.57259	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38560	1.13;2.9;3.19;3.01;2.91	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.45175	0.1329	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63046	0.992;0.992;0.98;0.965	P;P;P;P	0.58391	0.838;0.774;0.745;0.561	T	0.28713	-1.0035	10	0.87932	D	0	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	D	29;497;574;522;505	ENSP00000404640:A29D;ENSP00000377513:A497D;ENSP00000309392:A574D;ENSP00000334002:A522D;ENSP00000343170:A505D	ENSP00000309392:A574D	A	-	2	0	HAP1	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT		0.632	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		95	1951	1	0	2.77807e-22	1	3.14147e-22	95	1951					T	39881248	G	T	39881248	3	4	79	1	0	0	0	0	1	0	0	0	6983	971	34	3	298	3	HAP1	17	39881248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9159	39881248	41313962	17279	27596											
JUP	3728	broad.mit.edu	37	chr17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccttgtcaccagcacGcaggatggcatggatgagag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000393930.1_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	444					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1330-1332)Cgt>Tgt		junction plakoglobin							160	120	134					17																	39919402		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919402G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1330C>T	17.37:g.39919402G>A	ENSP00000377508:p.Arg444Cys					JUP_ENST00000393930.1_Missense_Mutation_p.R444C|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000540235.1_Intron	p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1448	-		Breast(137;0.000162)	444					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1330C>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728521	0.69074	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01406	4.93;4.93;4.93	5.08	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.29150	-1.0021	10	0.87932	D	0	-8.3127	7.3789	0.26843	0.1507:0.0:0.7112:0.1381	.	444	P14923	PLAK_HUMAN	C	444	ENSP00000377507:R444C;ENSP00000311113:R444C;ENSP00000377508:R444C	ENSP00000311113:R444C	R	-	1	0	JUP	37172928	1.000000	0.71417	0.976000	0.42696	0.847000	0.48162	2.941000	0.49011	0.668000	0.31126	0.491000	0.48974	CGT		0.612	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			58	262	0	0	0	1	0	58	262					A	39919402	G	A	39919402	3	1	79	1	0	0	0	0	1	0	0	0	8002	1087	38	1	935	1	JUP	17	39919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38154	39919402	41275808	17280	27597											
FKBP10	60681	broad.mit.edu	37	chr17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccggggagtcccaGgcagtgctgtgctgctgttt	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	472	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1414-1416)Ggc>Tgc		FK506 binding protein 10, 65 kDa							113	104	107					17																	39977920		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39977920G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1414G>T	17.37:g.39977920G>T	ENSP00000317232:p.Gly472Cys					FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	p.G472C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	9	1518	+		Breast(137;0.00122)	472			PPIase FKBP-type 4.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1414G>T	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485740|3.485740	0.63962|0.63962	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56444|.	0.46;0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.153182|.	0.42053|.	D|.	0.000771|.	D|D	0.84973|0.84973	0.5591|0.5591	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.967|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.52906|.	T|.	0.07|.	-18.8789|-18.8789	14.788|14.788	0.69819|0.69819	0.0:0.144:0.856:0.0|0.0:0.144:0.856:0.0	.|.	245;472|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|H	360;472;472;245|275	ENSP00000317232:G472C;ENSP00000442009:G245C|.	ENSP00000269598:G360C|.	G|Q	+|+	1|3	0|2	FKBP10|FKBP10	37231446|37231446	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.680000|0.680000	0.39746|0.39746	3.264000|3.264000	0.51553|0.51553	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GGC|CAG		0.657	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		63	336	1	0	4.46356e-37	1	5.35602e-37	63	336					T	39977920	G	T	39977920	3	4	79	1	0	0	0	0	1	0	0	0	5927	1000	35	3	1448	3	FKBP10	17	39977920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58518	39977920	41217290	17281	27598											
FKBP10	60681	broad.mit.edu	37	chr17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgagggcaaaggacgcCtcatgcctgggcaggaccct	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	537					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1609-1611)Ctc>Atc		FK506 binding protein 10, 65 kDa							68	57	61					17																	39978520		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39978520C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1609C>A	17.37:g.39978520C>A	ENSP00000317232:p.Leu537Ile					FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	p.L537I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	10	1713	+		Breast(137;0.00122)	537					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1609C>A	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018100|4.018100	0.75275|0.75275	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000414352	T;T|.	0.55052|.	0.54;0.54|.	5.73|5.73	5.73|5.73	0.89815|0.89815	EF-hand-like domain (1);|.	0.085714|.	0.48286|.	D|.	0.000194|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.28115|0.28115	0.83|0.83	0.49130|0.49130	D|D	0.999752|0.999752	P;B|.	0.45283|.	0.855;0.077|.	B;B|.	0.44163|.	0.443;0.021|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|6	0.34782|0.72032	T|D	0.22|0.01	-27.9767|-27.9767	8.9862|8.9862	0.35994|0.35994	0.1487:0.7782:0.0:0.0731|0.1487:0.7782:0.0:0.0731	.|.	310;537|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	I|H	425;537;310|536	ENSP00000317232:L537I;ENSP00000442009:L310I|.	ENSP00000269598:L425I|ENSP00000389800:P536H	L|P	+|+	1|2	0|0	FKBP10|FKBP10	37232046|37232046	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	3.196000|3.196000	0.51020|0.51020	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.602	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		12	138	1	0	4.36969e-10	1	4.6211e-10	12	138					A	39978520	C	A	39978520	3	1	79	1	0	0	0	0	1	0	0	0	5927	681	24	3	1647	3	FKBP10	17	39978520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	39978520	41216690	17282	27599											
KLHL10	317719	broad.mit.edu	37	chr17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgagcttagactagaggGcaagctctgcgacgtggtca	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000269534.8_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	36					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGACTAGAGGGCAAGCTCTGC	0.522																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(106-108)gGc>gAc		kelch-like family member 10							146	147	146					17																	39994291		2080	4208	6288	SO:0001583	missense	317719					cytoplasm		g.chr17:39994291G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.107G>A	17.37:g.39994291G>A	ENSP00000293303:p.Gly36Asp					KLHL10_ENST00000485613.1_3'UTR	p.G36D	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			1	260	+		Breast(137;0.000162)	36					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.107G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514210	0.64522	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.72167	-0.63;-0.63;-0.63	4.84	4.84	0.62591	BTB/POZ (1);BTB/POZ fold (2);	0.478194	0.23137	N	0.051501	T	0.78091	0.4229	L	0.49778	1.585	0.42499	D	0.992925	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.917	T	0.74321	-0.3703	10	0.26408	T	0.33	.	14.8509	0.70295	0.0:0.0:1.0:0.0	.	36;36	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	36	ENSP00000391983:G36D;ENSP00000293303:G36D;ENSP00000416221:G36D	ENSP00000293303:G36D	G	+	2	0	KLHL10	37247817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.787000	0.69013	2.542000	0.85734	0.650000	0.86243	GGC		0.522	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		107	416	0	0	0	1	0	107	416					A	39994291	G	A	39994291	3	1	79	1	0	0	0	0	1	0	0	0	8396	1203	42	2	109	2	KLHL10	17	39994291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15771	39994291	41200919	17283	27600											
KLHL10	317719	broad.mit.edu	37	chr17	39998189	39998189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacacccggaccgtgccTatcacaccggacaatgtgga	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGACCGTGCCTATCACACCGG	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(307-309)ccT>ccC		kelch-like family member 10							127	117	120					17																	39998189		1984	4172	6156	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998189T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.309T>C	17.37:g.39998189T>C						KLHL10_ENST00000485613.1_3'UTR	p.P103P	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	462	+		Breast(137;0.000162)	103			BTB.		Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.309T>C	CCDS42340.1																																																																																				0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		93	352	0	0	0	1	0	93	352					C	39998189	T	C	39998189	2	2	79	1	0	0	0	0	0	0	0	1	8396	1509	53	4		4	KLHL10	17	39998189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3898	39998189	41197021	17284	27601											
KLHL10	317719	broad.mit.edu	37	chr17	39998252	39998252	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttaacatcatgggtatCgtcaggggttgctgcgagtt	13	7	2	0	rs544035963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	124					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCATGGGTATCGTCAGGGGTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20416	0.0		0.0	False		,,,				2504	0.001					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(370-372)atC>atT		kelch-like family member 10							119	112	114					17																	39998252		1997	4178	6175	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998252C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.372C>T	17.37:g.39998252C>T						KLHL10_ENST00000485613.1_3'UTR	p.I124I	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	525	+		Breast(137;0.000162)	124					Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.372C>T	CCDS42340.1																																																																																				0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		76	275	0	0	0	1	0	76	275					T	39998252	C	T	39998252	2	4	79	1	0	0	0	0	0	0	0	1	8396	874	31	1		1	KLHL10	17	39998252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	39998252	41196958	17285	27602											
KLHL10	317719	broad.mit.edu	37	chr17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaggagtgatgcaagcGccacaacactttatgggaag	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1282-1284)Gcc>Acc		kelch-like family member 10							50	50	50					17																	40001975		2110	4230	6340	SO:0001583	missense	317719					cytoplasm		g.chr17:40001975G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1282G>A	17.37:g.40001975G>A	ENSP00000293303:p.Ala428Thr						p.A428T	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1435	+		Breast(137;0.000162)	428					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1282G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	KLHL10	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC		0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		48	198	0	0	0	1	0	48	198					A	40001975	G	A	40001975	3	1	79	1	0	0	0	0	1	0	0	0	8396	1087	38	1	1292	1	KLHL10	17	40001975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3723	40001975	41193235	17286	27603											
KLHL11	55175	broad.mit.edu	37	chr17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactgtcgagtctctgTatcatagcaagtaattacag	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	529										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1585-1587)Aca>Gca		kelch-like family member 11							93	85	88					17																	40010534		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010534T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1585A>G	17.37:g.40010534T>C	ENSP00000314608:p.Thr529Ala						p.T529A	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1645	-		Breast(137;0.00156)	529						Missense_Mutation	SNP	ENST00000319121.3	37	c.1585A>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	0.323	-0.961002	0.02249	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	4.18	0.49190	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.29908	0.895	0.45946	D	0.998776	B	0.15473	0.013	B	0.12156	0.007	T	0.44757	-0.9307	10	0.40728	T	0.16	-0.0634	9.0051	0.36106	0.0:0.2059:0.0:0.7941	.	529	Q9NVR0	KLH11_HUMAN	A	529;392	ENSP00000314608:T529A	ENSP00000314608:T529A	T	-	1	0	KLHL11	37264060	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.133000	0.50531	0.942000	0.37525	0.477000	0.44152	ACA		0.438	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		95	375	0	0	0	1	0	95	375					C	40010534	T	C	40010534	3	2	79	1	0	0	0	0	1	0	0	0	8397	1638	57	4	545	4	KLHL11	17	40010534	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8559	40010534	41184676	17287	27604											
KLHL11	55175	broad.mit.edu	37	chr17	40011445	40011445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctccgtatcatatcaGcagccttcagagcaagttgg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40011445G>A	ENST00000319121.3	-	2	734	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	225	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TATCATATCAGCAGCCTTCAG	0.383																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(673-675)gCt>gTt		kelch-like family member 11							82	82	82					17																	40011445		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40011445G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.674C>T	17.37:g.40011445G>A	ENSP00000314608:p.Ala225Val						p.A225V	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	734	-		Breast(137;0.00156)	225			BACK.			Missense_Mutation	SNP	ENST00000319121.3	37	c.674C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768529	0.31320	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.68903	-0.36	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.124523	0.53938	D	0.000058	T	0.51753	0.1693	N	0.25647	0.755	0.80722	D	1	B	0.26363	0.147	B	0.13407	0.009	T	0.50101	-0.8867	10	0.33141	T	0.24	5.868	13.8592	0.63550	0.0:0.0:0.8372:0.1628	.	225	Q9NVR0	KLH11_HUMAN	V	225;88	ENSP00000314608:A225V	ENSP00000314608:A225V	A	-	2	0	KLHL11	37264971	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.318000	0.96334	2.225000	0.72522	0.591000	0.81541	GCT		0.383	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		13	504	0	0	0	1	0	13	504					A	40011445	G	A	40011445	3	1	79	1	0	0	0	0	1	0	0	0	8397	971	34	2	1456	2	KLHL11	17	40011445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911	40011445	41183765	17288	27605											
ACLY	47	broad.mit.edu	37	chr17	40039420	40039420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccgatgcaccagcagacGatgggcttagtgaggcggcc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40039420G>A	ENST00000352035.2	-	20	2350	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ACLY_ENST00000537919.1_Silent_p.I469I|ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000393896.2_Silent_p.I730I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	740					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCAGCAGACGATGGGCTTAG	0.562																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2218-2220)atC>atT		ATP citrate lyase							94	90	91					17																	40039420		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40039420G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2220C>T	17.37:g.40039420G>A						ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000537919.1_Silent_p.I469I|ACLY_ENST00000353196.1_Silent_p.I730I	p.I740I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			20	2350	-		Breast(137;0.000143)	740					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2220C>T	CCDS11412.1																																																																																				0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		8	464	0	0	0	1	0	8	464					A	40039420	G	A	40039420	2	1	79	1	0	0	0	0	0	0	0	1	143	1048	37	1		1	ACLY	17	40039420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27975	40039420	41155790	17289	27606											
ACLY	47	broad.mit.edu	37	chr17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagtgtcctgatagCgtaacacatgatccatgaat	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	703					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2107-2109)cGc>cAc		ATP citrate lyase							89	79	82					17																	40040492		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40040492C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2108G>A	17.37:g.40040492C>T	ENSP00000253792:p.Arg703His					ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H	p.R703H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			19	2238	-		Breast(137;0.000143)	703					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2108G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.954;1.0;1.0;1.0;0.999	D	0.93454	0.6804	10	0.87932	D	0	.	19.8073	0.96535	0.0:1.0:0.0:0.0	.	432;747;757;693;703	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	703;757;693;432;693	ENSP00000253792:R703H;ENSP00000345398:R693H;ENSP00000445349:R432H;ENSP00000377474:R693H	ENSP00000253792:R703H	R	-	2	0	ACLY	37294018	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.704000	0.84595	2.685000	0.91497	0.455000	0.32223	CGC		0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		42	164	0	0	0	1	0	42	164					T	40040492	C	T	40040492	3	4	79	1	0	0	0	0	1	0	0	0	143	768	27	1	1241	1	ACLY	17	40040492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1072	40040492	41154718	17290	27607											
ACLY	47	broad.mit.edu	37	chr17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctgtcataggcagagCggagagaggcaaagttgatg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000537919.1_Missense_Mutation_p.R305H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000393896.2_Missense_Mutation_p.R566H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	576					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1726-1728)cGc>cAc		ATP citrate lyase							109	88	95					17																	40048575		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40048575C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1727G>A	17.37:g.40048575C>T	ENSP00000253792:p.Arg576His					ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H	p.R576H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			16	1857	-		Breast(137;0.000143)	576					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1727G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395884	0.96009	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.996;0.996;0.999;0.991	D	0.95226	0.8338	10	0.87932	D	0	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	305;620;630;566;576	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	576;630;566;305;566	ENSP00000253792:R576H;ENSP00000345398:R566H;ENSP00000445349:R305H;ENSP00000377474:R566H	ENSP00000253792:R576H	R	-	2	0	ACLY	37302101	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC		0.552	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		41	229	0	0	0	1	0	41	229					T	40048575	C	T	40048575	3	4	79	1	0	0	0	0	1	0	0	0	143	768	27	1	1634	1	ACLY	17	40048575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8083	40048575	41146635	17291	27608											
ACLY	47	broad.mit.edu	37	chr17	40062789	40062789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttcggtcacctgtacacGacagaggcgccacccccggc	10	19	1	1	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000393896.2_Silent_p.V286V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	286					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602													G|||	19	0.00379393	0.0144	0.0	5008	,	,		17473	0.0		0.0	False		,,,				2504	0.0				Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(856-858)gtC>gtT		ATP citrate lyase		G	,	39,4367	43.1+/-76.7	0,39,2164	104	96	99		858,858	-4.2	0.9	17	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,39,6464	AA,AG,GG		0.0,0.8852,0.2999	,	286/1102,286/1092	40062789	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40062789G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.858C>T	17.37:g.40062789G>A						ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.V286V	p.V286V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			8	988	-		Breast(137;0.000143)	286					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.858C>T	CCDS11412.1																																																																																				0.602	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		96	452	0	0	0	1	0	96	452					A	40062789	G	A	40062789	2	1	79	1	0	0	0	0	0	0	0	1	143	1045	37	1		1	ACLY	17	40062789	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14214	40062789	41132421	17292	27609											
TTC25	1267	broad.mit.edu	37	chr17	40117142	40117142	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagatgaggacgatgagGcttttggggaagctctgcag	16	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40117142G>A	ENST00000393892.3	+	0	0				CNP_ENST00000591072.1_5'Flank|CNP_ENST00000472031.1_5'Flank|CNP_ENST00000393888.1_5'Flank|TTC25_ENST00000591658.1_RNA	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGACGATGAGGCTTTTGGGGA	0.542																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							35	39	38					17																	40117142		2000	4170	6170	SO:0001631	upstream_gene_variant	83538					cytoplasm	protein binding	g.chr17:40117142G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117142G>A	Exception_encountered									Q96NG3	TTC25_HUMAN			0	1531	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)							RNA	SNP	ENST00000393892.3	37		CCDS11414.2																																																																																				0.542	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			9	51	0	0	0	1	0	9	51					A	40117142	G	A	40117142	1	1	79	0	1	0	0	0	0	0	0	0	16747	1203	42	2		2	TTC25	17	40117142	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54353	40117142	41078068	17293	27610											
CNP	1267	broad.mit.edu	37	chr17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttgcgcggcctgccaGgaagcggcaagtccacgctg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000591072.1_Intron|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000592446.1_3'UTR|TTC25_ENST00000591658.1_RNA	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	60					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGGCCTGCCAGGAAGCGGCAA	0.602																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(178-180)Gga>Aga		2',3'-cyclic nucleotide 3' phosphodiesterase							40	43	42					17																	40120260		2136	4229	6365	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40120260G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.178G>A	17.37:g.40120260G>A	ENSP00000377470:p.Gly60Arg					CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000472031.1_Intron	p.G60R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	2	322	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	60						Missense_Mutation	SNP	ENST00000393892.3	37	c.178G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	33	5.246472	0.95305	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888;ENST00000441615	T;T;T	0.68479	-0.33;-0.33;-0.33	4.86	4.86	0.63082	Zeta toxin domain (1);	0.171566	0.50627	D	0.000109	D	0.83571	0.5283	M	0.82716	2.605	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	0.86021	0.1507	10	0.87932	D	0	-26.7928	18.5312	0.90993	0.0:0.0:1.0:0.0	.	60;60;40	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	R	60;60;40;40	ENSP00000377470:G60R;ENSP00000377466:G40R;ENSP00000413104:G40R	ENSP00000309643:G60R	G	+	1	0	CNP	37373786	1.000000	0.71417	0.930000	0.37139	0.989000	0.77384	8.357000	0.90088	2.683000	0.91414	0.555000	0.69702	GGA		0.602	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			26	181	0	0	0	1	0	26	181					A	40120260	G	A	40120260	3	1	79	1	0	0	0	0	1	0	0	0	3635	1001	35	2	184	2	CNP	17	40120260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3118	40120260	41074950	17294	27611											
CNP	1267	broad.mit.edu	37	chr17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccgcgggggagccgcGcccacatcaccctcggctgt	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.A309T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	329					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGAGCCGCGCCCACATCAC	0.652																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(985-987)Gcc>Acc		2',3'-cyclic nucleotide 3' phosphodiesterase							33	40	38					17																	40125661		2017	4149	6166	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40125661G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.985G>A	17.37:g.40125661G>A	ENSP00000377470:p.Ala329Thr					CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000393888.1_Missense_Mutation_p.A309T|CNP_ENST00000472031.1_3'UTR	p.A329T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	4	1129	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	329						Missense_Mutation	SNP	ENST00000393892.3	37	c.985G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378658	0.82682	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.58358	0.34;0.34	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184155	0.47093	D	0.000259	T	0.71500	0.3347	M	0.69823	2.125	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75105	-0.3435	10	0.87932	D	0	-13.2322	15.8956	0.79333	0.0:0.0:1.0:0.0	.	206;329	B4DI06;P09543	.;CN37_HUMAN	T	329;205;309	ENSP00000377470:A329T;ENSP00000377466:A309T	ENSP00000309643:A205T	A	+	1	0	CNP	37379187	1.000000	0.71417	0.275000	0.24674	0.525000	0.34531	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GCC		0.652	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			81	362	0	0	0	1	0	81	362					A	40125661	G	A	40125661	3	1	79	1	0	0	0	0	1	0	0	0	3635	1087	38	1	999	1	CNP	17	40125661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5401	40125661	41069549	17295	27612											
DHX58	79132	broad.mit.edu	37	chr17	40257177	40257177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctggatcacttcttgCtggtccctctgcaggcggag	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	420	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1258-1260)caG>caA		DEXH (Asp-Glu-X-His) box polypeptide 58							49	41	44					17																	40257177		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257177C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1260G>A	17.37:g.40257177C>T							p.Q420Q	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1482	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	420			Helicase C-terminal.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.1260G>A	CCDS11416.1																																																																																				0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		25	111	0	0	0	1	0	25	111					T	40257177	C	T	40257177	2	4	79	1	0	0	0	0	0	0	0	1	4530	796	28	2		2	DHX58	17	40257177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131516	40257177	40938033	17296	27613											
DHX58	79132	broad.mit.edu	37	chr17	40257933	40257933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctactgaactgcctttgcaGgatcttttccagcatctcca	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257933G>T	ENST00000251642.3	-	9	1294	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	358	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCTTTGCAGGATCTTTTCC	0.542																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1072-1074)Ctg>Atg		DEXH (Asp-Glu-X-His) box polypeptide 58							127	124	125					17																	40257933		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257933G>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1072C>A	17.37:g.40257933G>T	ENSP00000251642:p.Leu358Met						p.L358M	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1294	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	358			Helicase C-terminal.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1072C>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266381	0.40095	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.07908	3.15	5.17	3.13	0.36017	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.27629	0.0679	M	0.83118	2.625	0.25991	N	0.98225	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05257	-1.0896	10	0.87932	D	0	.	8.6014	0.33747	0.2365:0.0:0.7635:0.0	.	351;358	B7Z455;Q96C10	.;DHX58_HUMAN	M	358;321	ENSP00000251642:L358M	ENSP00000251642:L358M	L	-	1	2	DHX58	37511459	1.000000	0.71417	0.615000	0.29064	0.416000	0.31233	3.191000	0.50981	0.557000	0.29117	0.455000	0.32223	CTG		0.542	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		11	641	1	0	3.86212e-05	1	3.93988e-05	11	641					T	40257933	G	T	40257933	3	4	79	1	0	0	0	0	1	0	0	0	4530	991	35	3	988	3	DHX58	17	40257933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	756	40257933	40937277	17297	27614											
DHX58	79132	broad.mit.edu	37	chr17	40259626	40259626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcccgcccctcaccatcGaacagggccagcagccggcg	10	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(991-993)ttC>ttT		DEXH (Asp-Glu-X-His) box polypeptide 58							15	15	15					17																	40259626		2203	4296	6499	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259626G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.993C>T	17.37:g.40259626G>A							p.F331F	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1215	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	331					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.993C>T	CCDS11416.1																																																																																				0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		25	91	0	0	0	1	0	25	91					A	40259626	G	A	40259626	2	1	79	1	0	0	0	0	0	0	0	1	4530	1049	37	1		1	DHX58	17	40259626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	40259626	40935584	17298	27615											
DHX58	79132	broad.mit.edu	37	chr17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccggcgctcggcaCacaggatctgggttttagtg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	322					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(964-966)tGt>tAt		DEXH (Asp-Glu-X-His) box polypeptide 58							31	30	30					17																	40259654		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259654C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.965G>A	17.37:g.40259654C>T	ENSP00000251642:p.Cys322Tyr						p.C322Y	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1187	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	322					Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.965G>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659381	0.47467	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.04275	3.66	5.38	-6.61	0.01818	.	1.661990	0.03753	N	0.256957	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.46652	-0.9176	10	0.59425	D	0.04	.	8.7319	0.34505	0.0:0.588:0.1601:0.2519	.	315;322	B7Z455;Q96C10	.;DHX58_HUMAN	Y	322;285	ENSP00000251642:C322Y	ENSP00000251642:C322Y	C	-	2	0	DHX58	37513180	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-3.723000	0.00383	-0.846000	0.04174	0.462000	0.41574	TGT		0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		24	107	0	0	0	1	0	24	107					T	40259654	C	T	40259654	3	4	79	1	0	0	0	0	1	0	0	0	4530	478	17	2	1099	2	DHX58	17	40259654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	40259654	40935556	17299	27616											
KAT2A	2648	broad.mit.edu	37	chr17	40266508	40266508	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactgagacccctgcttacGaatgccaggaacgctctcca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	712					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.e14+1		K(lysine) acetyltransferase 2A							199	192	194					17																	40266508		2203	4300	6503	SO:0001630	splice_region_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266508G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2134+1C>T	17.37:g.40266508G>A							p.R712_splice	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			14	2187	-			712					Q8N1A2|Q9UCW1	Splice_Site	SNP	ENST00000225916.5	37	c.2134_splice	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631659	0.96682	.	.	ENSG00000108773	ENST00000225916	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.445	17.8076	0.88606	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	.	R	-	1	2	KAT2A	37520034	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	1.883000	0.39658	2.192000	0.70111	0.462000	0.41574	CGA		0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078	Nonsense_Mutation	153	1102	0	0	0	1	0	153	1102					A	40266508	G	A	40266508	5	1	79	1	0	0	0	0	0	0	1	0	8011	1072	37	1	399	1	KAT2A	17	40266508	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6854	40266508	40928702	17300	27617											
KAT2A	2648	broad.mit.edu	37	chr17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcgtaggtgaggaagtagaGaatgttgtgcttgatgtgat	17	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	608	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1822-1824)Ctc>Ttc		K(lysine) acetyltransferase 2A							257	233	241					17																	40267794		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40267794G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1822C>T	17.37:g.40267794G>A	ENSP00000225916:p.Leu608Phe						p.L608F	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			12	1875	-			608			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1822C>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927266	0.92389	.	.	ENSG00000108773	ENST00000225916	T	0.05925	3.37	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33485	1.01	0.80722	D	1	D	0.63880	0.993	P	0.61874	0.895	T	0.00842	-1.1544	10	0.56958	D	0.05	-26.4525	18.5847	0.91185	0.0:0.0:1.0:0.0	.	608	Q92830	KAT2A_HUMAN	F	608	ENSP00000225916:L608F	ENSP00000225916:L608F	L	-	1	0	KAT2A	37521320	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.488000	0.83962	0.462000	0.41574	CTC		0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		111	582	0	0	0	1	0	111	582					A	40267794	G	A	40267794	3	1	79	1	0	0	0	0	1	0	0	0	8011	942	33	2	719	2	KAT2A	17	40267794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1286	40267794	40927416	17301	27618											
KAT2A	2648	broad.mit.edu	37	chr17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggggaggctatcacagCtctggggcacgtggcagtaa	17	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	304					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(910-912)aGc>aTc		K(lysine) acetyltransferase 2A							89	87	88					17																	40271425		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271425C>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.911G>T	17.37:g.40271425C>A	ENSP00000225916:p.Ser304Ile						p.S304I	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	964	-			304					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.911G>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529346	0.44969	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	4.69	3.7	0.42460	PCAF, N-terminal (1);	0.043254	0.85682	D	0.000000	T	0.07999	0.0200	L	0.36672	1.1	0.52501	D	0.999959	B	0.29805	0.257	B	0.36030	0.216	T	0.31280	-0.9949	10	0.33940	T	0.23	-20.4372	14.1904	0.65635	0.1507:0.8493:0.0:0.0	.	304	Q92830	KAT2A_HUMAN	I	304	ENSP00000225916:S304I	ENSP00000225916:S304I	S	-	2	0	KAT2A	37524951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.005000	0.49521	1.175000	0.42826	0.555000	0.69702	AGC		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		106	494	1	0	2.73867e-56	1	3.42633e-56	106	494					A	40271425	C	A	40271425	3	1	79	1	0	0	0	0	1	0	0	0	8011	797	28	3	1654	3	KAT2A	17	40271425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3631	40271425	40923785	17302	27619											
KCNH4	23415	broad.mit.edu	37	chr17	40312104	40312104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactgtgcctcaagaggCttggggttgggggtgaggcc	19	7	1	2	rs567252082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40312104C>A	ENST00000264661.3	-	16	3340	c.3008G>T	c.(3007-3009)aGc>aTc	p.S1003I	KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1003					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCAAGAGGCTTGGGGTTGG	0.652																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(3007-3009)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 4							34	35	35					17																	40312104		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40312104C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.3008G>T	17.37:g.40312104C>A	ENSP00000264661:p.Ser1003Ile					KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	16	3340	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	1003						Missense_Mutation	SNP	ENST00000264661.3	37	c.3008G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905727	0.17760	.	.	ENSG00000089558	ENST00000264661	D	0.98835	-5.17	5.02	3.02	0.34903	.	0.136685	0.33631	N	0.004718	D	0.93854	0.8034	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.23018	0.043	D	0.89055	0.3458	10	0.66056	D	0.02	.	6.6623	0.23020	0.0:0.7241:0.1803:0.0956	.	1003	Q9UQ05	KCNH4_HUMAN	I	1003	ENSP00000264661:S1003I	ENSP00000264661:S1003I	S	-	2	0	KCNH4	37565630	0.680000	0.27605	0.722000	0.30670	0.386000	0.30323	0.986000	0.29590	0.691000	0.31592	-0.305000	0.09177	AGC		0.652	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	238	1	0	5.18039e-06	1	5.32547e-06	8	238					A	40312104	C	A	40312104	3	1	79	1	0	0	0	0	1	0	0	0	8064	797	28	3	49	3	KCNH4	17	40312104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40679	40312104	40883106	17303	27620											
KCNH4	23415	broad.mit.edu	37	chr17	40317623	40317623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagctttcacatcagcActggtctttagcacgaagtt	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	643					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1927-1929)agT>agC		potassium voltage-gated channel, subfamily H (eag-related), member 4							82	71	74					17																	40317623		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317623A>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1929T>C	17.37:g.40317623A>G						KCNH4_ENST00000607371.1_Silent_p.S643S	p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2261	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	643						Silent	SNP	ENST00000264661.3	37	c.1929T>C	CCDS11420.1																																																																																				0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		38	264	0	0	0	1	0	38	264					G	40317623	A	G	40317623	2	3	79	1	0	0	0	0	0	0	0	1	8064	156	6	4		4	KCNH4	17	40317623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5519	40317623	40877587	17304	27621											
KCNH4	23415	broad.mit.edu	37	chr17	40318319	40318319	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgacggtgtccttacccagGatggccagcaccatgttgtc	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	ENST00000264661.3	-	10	2168	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	KCNH4_ENST00000607371.1_Silent_p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	612					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAGGATGGCCAGCA	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1834-1836)atC>atA		potassium voltage-gated channel, subfamily H (eag-related), member 4							61	55	57					17																	40318319		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318319G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1836C>A	17.37:g.40318319G>T						KCNH4_ENST00000607371.1_Silent_p.I612I	p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2168	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	612						Silent	SNP	ENST00000264661.3	37	c.1836C>A	CCDS11420.1																																																																																				0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	71	1	0	0.0477658	1	0.0478703	9	71					T	40318319	G	T	40318319	2	4	79	1	0	0	0	0	0	0	0	1	8064	1164	41	3		3	KCNH4	17	40318319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40318319	40876891	17305	27622											
KCNH4	23415	broad.mit.edu	37	chr17	40318398	40318398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgcagggcatccccaCggcgcaacaggtactcgccc	12	17	0	0	rs146559611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318398C>T	ENST00000264661.3	-	10	2089	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R586H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	586					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCATCCCCACGGCGCAACAG	0.642																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1756-1758)cGt>cAt		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	61	55	57		1757	4.2	1	17	dbSNP_134	57	12,8588	9.1+/-34.3	0,12,4288	yes	missense	KCNH4	NM_012285.2	29	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	benign	586/1018	40318398	14,12992	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318398C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1757G>A	17.37:g.40318398C>T	ENSP00000264661:p.Arg586His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R586H	p.R586H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2089	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	586						Missense_Mutation	SNP	ENST00000264661.3	37	c.1757G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920124	0.52653	4.54E-4	0.001395	ENSG00000089558	ENST00000264661	D	0.96716	-4.1	4.17	4.17	0.49024	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.205303	0.22343	N	0.061320	D	0.90563	0.7042	N	0.26162	0.8	0.40380	D	0.979432	B	0.15141	0.012	B	0.13407	0.009	D	0.85445	0.1157	10	0.33141	T	0.24	.	4.9682	0.14102	0.0:0.7283:0.0:0.2717	.	586	Q9UQ05	KCNH4_HUMAN	H	586	ENSP00000264661:R586H	ENSP00000264661:R586H	R	-	2	0	KCNH4	37571924	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.991000	0.70602	2.176000	0.68965	0.467000	0.42956	CGT		0.642	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	168	0	0	0	1	0	5	168					T	40318398	C	T	40318398	3	4	79	1	0	0	0	0	1	0	0	0	8064	536	19	1	1324	1	KCNH4	17	40318398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	40318398	40876812	17306	27623											
KCNH4	23415	broad.mit.edu	37	chr17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgccccgaacaacggcaGctgcaggatctcccgattca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	554					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1660-1662)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 4							46	38	41					17																	40318495		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318495G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1660C>A	17.37:g.40318495G>T	ENSP00000264661:p.Leu554Met					KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1992	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	554						Missense_Mutation	SNP	ENST00000264661.3	37	c.1660C>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120584	0.77323	.	.	ENSG00000089558	ENST00000264661	D	0.96940	-4.18	4.2	3.19	0.36642	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.31461	N	0.007619	D	0.97445	0.9164	M	0.74881	2.28	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	10	0.52906	T	0.07	.	12.2967	0.54852	0.0851:0.0:0.9149:0.0	.	554	Q9UQ05	KCNH4_HUMAN	M	554	ENSP00000264661:L554M	ENSP00000264661:L554M	L	-	1	2	KCNH4	37572021	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.745000	0.62125	2.182000	0.69389	0.563000	0.77884	CTG		0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		11	230	1	0	0.00829132	1	0.00834067	11	230					T	40318495	G	T	40318495	3	4	79	1	0	0	0	0	1	0	0	0	8064	962	34	3	1421	3	KCNH4	17	40318495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	40318495	40876715	17307	27624											
KCNH4	23415	broad.mit.edu	37	chr17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtattcgagcatgcgctgcTtgagcggccgcggcaggcgg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	509					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1525-1527)aAg>aGg		potassium voltage-gated channel, subfamily H (eag-related), member 4							77	70	72					17																	40321559		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321559T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1526A>G	17.37:g.40321559T>C	ENSP00000264661:p.Lys509Arg					KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1858	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	509						Missense_Mutation	SNP	ENST00000264661.3	37	c.1526A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795161	0.50208	.	.	ENSG00000089558	ENST00000264661	D	0.96522	-4.04	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.40728	N	0.001028	D	0.91205	0.7229	N	0.25286	0.73	0.54753	D	0.999988	B	0.19706	0.038	B	0.26614	0.071	D	0.86502	0.1804	10	0.07482	T	0.82	.	13.3792	0.60759	0.0:0.0:0.0:1.0	.	509	Q9UQ05	KCNH4_HUMAN	R	509	ENSP00000264661:K509R	ENSP00000264661:K509R	K	-	2	0	KCNH4	37575085	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.067000	0.71193	1.744000	0.51775	0.379000	0.24179	AAG		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		62	320	0	0	0	1	0	62	320					C	40321559	T	C	40321559	3	2	79	1	0	0	0	0	1	0	0	0	8064	1609	56	4	1559	4	KCNH4	17	40321559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3064	40321559	40873651	17308	27625											
KCNH4	23415	broad.mit.edu	37	chr17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgatgggcatcatgTccaggaggcaccaaaaggct	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(334-336)gAc>gGc		potassium voltage-gated channel, subfamily H (eag-related), member 4							49	41	44					17																	40330471		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330471T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.335A>G	17.37:g.40330471T>C	ENSP00000264661:p.Asp112Gly					KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	667	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	112			PAC.			Missense_Mutation	SNP	ENST00000264661.3	37	c.335A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330240	0.81690	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.42682	D	0.000662	D	0.99638	0.9867	M	0.91459	3.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97871	1.0286	10	0.72032	D	0.01	.	12.0825	0.53680	0.0:0.0:0.143:0.8569	.	112	Q9UQ05	KCNH4_HUMAN	G	112	ENSP00000264661:D112G	ENSP00000264661:D112G	D	-	2	0	KCNH4	37583997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.520000	0.53465	2.090000	0.63153	0.460000	0.39030	GAC		0.562	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		21	121	0	0	0	1	0	21	121					C	40330471	T	C	40330471	3	2	79	1	0	0	0	0	1	0	0	0	8064	1667	58	4	2774	4	KCNH4	17	40330471	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8912	40330471	40864739	17309	27626											
GHDC	84514	broad.mit.edu	37	chr17	40344543	40344543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagaagttcgacagccGtcccagcctccagtgccctc	8	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344543G>A	ENST00000301671.8	-	4	1046	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GHDC_ENST00000436923.2_Missense_Mutation_p.T202M|GHDC_ENST00000587427.1_Missense_Mutation_p.T202M|GHDC_ENST00000593209.1_Missense_Mutation_p.T202M|GHDC_ENST00000414034.3_Missense_Mutation_p.T202M|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Missense_Mutation_p.T163M			Q8N2G8	GHDC_HUMAN	GH3 domain containing	202						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T202M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TTCGACAGCCGTCCCAGCCTC	0.637																																						ENST00000301671.8																			1	Substitution - Missense(1)	p.T202M(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(604-606)aCg>aTg		GH3 domain containing							65	74	71					17																	40344543		2201	4295	6496	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344543G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.605C>T	17.37:g.40344543G>A	ENSP00000301671:p.Thr202Met					GHDC_ENST00000436923.2_Missense_Mutation_p.T202M|GHDC_ENST00000587427.1_Missense_Mutation_p.T202M|GHDC_ENST00000428494.2_Missense_Mutation_p.T163M|GHDC_ENST00000593209.1_Missense_Mutation_p.T202M|GHDC_ENST00000414034.3_Missense_Mutation_p.T202M	p.T202M			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1046	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	202					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.605C>T	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895760	0.33442	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	4.52	0.55395	.	0.219913	0.32258	N	0.006350	T	0.64450	0.2599	M	0.63428	1.95	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.977;0.995	T	0.57165	-0.7858	9	0.54805	T	0.06	-8.2865	14.0975	0.65032	0.0:0.0:1.0:0.0	.	163;202;202	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	M	146;163;202;202;202	.	ENSP00000301671:T202M	T	-	2	0	GHDC	37598069	0.801000	0.28930	0.454000	0.27019	0.279000	0.26890	1.473000	0.35387	2.352000	0.79861	0.561000	0.74099	ACG		0.637	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		16	923	0	0	0	1	0	16	923					A	40344543	G	A	40344543	3	1	79	1	0	0	0	0	1	0	0	0	6398	1145	40	1	1100	1	GHDC	17	40344543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14072	40344543	40850667	17310	27627											
GHDC	84514	broad.mit.edu	37	chr17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcctccccaaggtcctGgtttgaggtcgggggcagtg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000301671.8	-	3	802	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing	121						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAAGGTCCTGGTTTGAGGTC	0.592																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(361-363)Cag>Aag		GH3 domain containing							107	121	116					17																	40344950		2203	4300	6503	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344950G>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.361C>A	17.37:g.40344950G>T	ENSP00000301671:p.Gln121Lys					GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K	p.Q121K			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	3	802	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	121					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.361C>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.629075	0.28978	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.47	3.42	0.39159	.	0.530530	0.17821	N	0.160851	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.02	B;B	0.21917	0.037;0.006	T	0.06935	-1.0799	9	0.22109	T	0.4	-2.9532	6.5711	0.22539	0.1327:0.0:0.8673:0.0	.	121;121	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	65;121;121;121	.	ENSP00000301671:Q121K	Q	-	1	0	GHDC	37598476	0.008000	0.16893	0.014000	0.15608	0.028000	0.11728	1.114000	0.31196	2.320000	0.78422	0.561000	0.74099	CAG		0.592	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		143	554	1	0	1.25626e-67	1	1.59178e-67	143	554					T	40344950	G	T	40344950	3	4	79	1	0	0	0	0	1	0	0	0	6398	1357	47	3	1348	3	GHDC	17	40344950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407	40344950	40850260	17311	27628											
STAT5A	6776	broad.mit.edu	37	chr17	40452779	40452779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaccggcagcagatcCgcagggctgagcacctctgc	14	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	ENST00000345506.4	+	9	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	294					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGCAGATCCGCAGGGCTGA	0.622																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(880-882)Cgc>Tgc		signal transducer and activator of transcription 5A							40	33	36					17																	40452779		2202	4276	6478	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40452779C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.880C>T	17.37:g.40452779C>T	ENSP00000341208:p.Arg294Cys					STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C	p.R294C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	9	1522	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	294					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.880C>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783579	0.70222	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.60548	0.18;0.18;0.18	4.39	3.3	0.37823	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.061993	0.64402	D	0.000003	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71656	0.974;0.964;0.922	T	0.75758	-0.3205	10	0.87932	D	0	-19.3167	14.876	0.70493	0.154:0.846:0.0:0.0	.	264;296;294	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	294;264;296;294	ENSP00000341208:R294C;ENSP00000443107:R264C;ENSP00000400320:R294C	ENSP00000341208:R294C	R	+	1	0	STAT5A	37706305	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.775000	0.47702	1.984000	0.57885	0.306000	0.20318	CGC		0.622	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		35	195	0	0	0	1	0	35	195					T	40452779	C	T	40452779	3	4	79	1	0	0	0	0	1	0	0	0	15320	652	23	1	906	1	STAT5A	17	40452779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107829	40452779	40742431	17312	27629											
STAT3	6774	broad.mit.edu	37	chr17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaggtcaatggtattgCtgcaggtcgttctgtaggaa	14	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000585517.1_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	719					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2155-2157)aGc>aAc		signal transducer and activator of transcription 3 (acute-phase response factor)							50	51	51					17																	40468908		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40468908C>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2156G>A	17.37:g.40468908C>T	ENSP00000264657:p.Ser719Asn					STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N	p.S719N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	23	2468	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	719					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.2156G>A	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156564	0.57259	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96651	-4.08;-4.08;-4.08	5.09	5.09	0.68999	.	0.211503	0.49305	D	0.000154	D	0.91593	0.7344	N	0.14661	0.345	0.45718	D	0.998629	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	D	0.87653	0.2529	10	0.22706	T	0.39	-36.6963	18.6865	0.91567	0.0:1.0:0.0:0.0	.	718;719	P40763-2;P40763	.;STAT3_HUMAN	N	719;621;718	ENSP00000264657:S719N;ENSP00000373923:S621N;ENSP00000384943:S718N	ENSP00000264657:S719N	S	-	2	0	STAT3	37722434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.662000	0.90505	0.655000	0.94253	AGC		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		72	206	0	0	0	1	0	72	206					T	40468908	C	T	40468908	3	4	79	1	0	0	0	0	1	0	0	0	15318	797	28	2	164	2	STAT3	17	40468908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16129	40468908	40726302	17313	27630											
PTRF	284119	broad.mit.edu	37	chr17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttctccagggtgtgccGcgtcttctccaggttttcct	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(799-801)Cgg>Tgg		polymerase I and transcript release factor							123	109	113					17																	40557079		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557079G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.799C>T	17.37:g.40557079G>A	ENSP00000349541:p.Arg267Trp						p.R267W	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1218	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	267						Missense_Mutation	SNP	ENST00000357037.5	37	c.799C>T	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340340	0.60963	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.66815	-0.23	5.81	3.64	0.41730	.	0.150034	0.41823	D	0.000818	T	0.78233	0.4251	L	0.61218	1.895	0.36143	D	0.846923	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.85280	0.1061	10	0.87932	D	0	-14.7881	15.557	0.76203	0.0:0.0:0.6534:0.3466	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	267;222	ENSP00000349541:R267W	ENSP00000349541:R267W	R	-	1	2	PTRF	37810605	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.337000	0.52120	1.463000	0.47967	-0.289000	0.09944	CGG		0.607	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		81	354	0	0	0	1	0	81	354					A	40557079	G	A	40557079	3	1	79	1	0	0	0	0	1	0	0	0	12865	1086	38	1	377	1	PTRF	17	40557079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88171	40557079	40638131	17314	27631											
PTRF	284119	broad.mit.edu	37	chr17	40557266	40557266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaacctccaccgcctcGtccgacgaaagctccagcgc	7	20	1	0	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672																																						ENST00000357037.5																			1	Substitution - coding silent(1)	p.D204D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(610-612)gaC>gaT		polymerase I and transcript release factor							83	89	87					17																	40557266		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557266G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	17.37:g.40557266G>A							p.D204D	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1031	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	204						Silent	SNP	ENST00000357037.5	37	c.612C>T	CCDS11425.1																																																																																				0.672	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		257	995	0	0	0	1	0	257	995					A	40557266	G	A	40557266	2	1	79	1	0	0	0	0	0	0	0	1	12865	1136	40	1		1	PTRF	17	40557266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	40557266	40637944	17315	27632											
ATP6V0A1	535	broad.mit.edu	37	chr17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagctaacattccgaTtatggacaccggtgaaaacc	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	79					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.I79N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACATTCCGATTATGGACACC	0.393																																						ENST00000343619.4																			1	Substitution - Missense(1)	p.I79N(1)	endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(235-237)aTt>aGt		ATPase, H+ transporting, lysosomal V0 subunit a1							96	94	95					17																	40620067		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40620067T>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.236T>G	17.37:g.40620067T>G	ENSP00000342951:p.Ile79Ser					ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S	p.I79S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	4	359	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	79					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.236T>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671138	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.99	5.99	0.97316	.	0.153144	0.56097	D	0.000022	D	0.88433	0.6435	M	0.73962	2.25	0.80722	D	1	B;P;P;P;P;P	0.45240	0.343;0.494;0.621;0.629;0.854;0.567	P;B;P;B;P;P	0.47299	0.474;0.371;0.493;0.243;0.543;0.462	D	0.89748	0.3938	10	0.87932	D	0	-25.0355	16.4943	0.84223	0.0:0.0:0.0:1.0	.	79;79;79;79;79;79	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	S	79	ENSP00000342951:I79S;ENSP00000444676:I79S;ENSP00000377415:I79S;ENSP00000264649:I79S;ENSP00000443991:I79S	ENSP00000264649:I79S	I	+	2	0	ATP6V0A1	37873593	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	4.899000	0.63245	2.291000	0.77112	0.533000	0.62120	ATT		0.393	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		53	233	0	0	0	1	0	53	233					G	40620067	T	G	40620067	3	3	79	1	0	0	0	0	1	0	0	0	1169	1493	52	4	246	4	ATP6V0A1	17	40620067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62801	40620067	40575143	17316	27633											
ATP6V0A1	535	broad.mit.edu	37	chr17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggagacttcggtcatgGcattttaatgaccctttttg	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	413					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCGGTCATGGCATTTTAATG	0.388																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1237-1239)gGc>gAc		ATPase, H+ transporting, lysosomal V0 subunit a1							186	166	173					17																	40646415		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40646415G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1238G>A	17.37:g.40646415G>A	ENSP00000342951:p.Gly413Asp					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D	p.G413D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	12	1361	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	413					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1238G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419759	0.96111	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-13.4495	19.6278	0.95687	0.0:0.0:1.0:0.0	.	370;370;420;413;413	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	D	413;413;413;420;370;59	ENSP00000342951:G413D;ENSP00000444676:G413D;ENSP00000377415:G413D;ENSP00000264649:G420D;ENSP00000443991:G370D;ENSP00000446377:G59D	ENSP00000264649:G420D	G	+	2	0	ATP6V0A1	37899941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.801000	0.99128	2.646000	0.89796	0.561000	0.74099	GGC		0.388	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		74	313	0	0	0	1	0	74	313					A	40646415	G	A	40646415	3	1	79	1	0	0	0	0	1	0	0	0	1169	1203	42	2	1301	2	ATP6V0A1	17	40646415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26348	40646415	40548795	17317	27634											
ATP6V0A1	535	broad.mit.edu	37	chr17	40660601	40660601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcaagccttccgaggaCgaagtggtaagatgaaagct	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCCGAGGACGAAGTGGTAA	0.527																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(2122-2124)gaC>gaT		ATPase, H+ transporting, lysosomal V0 subunit a1							166	145	152					17																	40660601		1568	3582	5150	SO:0001819	synonymous_variant	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40660601C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2124C>T	17.37:g.40660601C>T						ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000546249.1_Intron	p.D708D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	19	2247	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	708					B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	c.2124C>T	CCDS45684.1																																																																																				0.527	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		61	296	0	0	0	1	0	61	296					T	40660601	C	T	40660601	2	4	79	1	0	0	0	0	0	0	0	1	1169	535	19	1		1	ATP6V0A1	17	40660601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14186	40660601	40534609	17318	27635											
NAGLU	4669	broad.mit.edu	37	chr17	40695695	40695695	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagccccgccttccgCtacgacctgctggacctcac	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	557					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1669-1671)cgC>cgA		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						28	26	27					17																	40695695		2198	4288	6486	SO:0001819	synonymous_variant	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695695C>A		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1671C>A	17.37:g.40695695C>A						RP11-400F19.8_ENST00000585572.1_RNA	p.R557R	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1772	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	557						Silent	SNP	ENST00000225927.2	37	c.1671C>A	CCDS11427.1																																																																																				0.607	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		15	183	1	0	6.31663e-08	1	6.57865e-08	15	183					A	40695695	C	A	40695695	2	1	79	1	0	0	0	0	0	0	0	1	10184	784	28	3		3	NAGLU	17	40695695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35094	40695695	40499515	17319	27636											
NAGLU	4669	broad.mit.edu	37	chr17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtcagtgaggccgaggCcgatttctacgagcagaaca	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	635					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1903-1905)gCc>gTc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						24	21	22					17																	40695928		2202	4296	6498	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695928C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1904C>T	17.37:g.40695928C>T	ENSP00000225927:p.Ala635Val					RP11-400F19.8_ENST00000585572.1_RNA	p.A635V	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2005	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	635						Missense_Mutation	SNP	ENST00000225927.2	37	c.1904C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469090	0.63625	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98717	-5.09	4.69	2.56	0.30785	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.109437	0.64402	D	0.000007	D	0.98235	0.9416	M	0.73962	2.25	0.47547	D	0.999454	D	0.52996	0.957	P	0.52823	0.71	D	0.96897	0.9657	10	0.30078	T	0.28	-17.0091	13.5916	0.61964	0.0:0.7022:0.2978:0.0	.	635	P54802	ANAG_HUMAN	V	635;311	ENSP00000225927:A635V	ENSP00000225927:A635V	A	+	2	0	NAGLU	37949454	1.000000	0.71417	0.830000	0.32933	0.741000	0.42261	4.670000	0.61583	0.633000	0.30452	0.561000	0.74099	GCC		0.642	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		11	71	0	0	0	1	0	11	71					T	40695928	C	T	40695928	3	4	79	1	0	0	0	0	1	0	0	0	10184	739	26	2	1926	2	NAGLU	17	40695928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	40695928	40499282	17320	27637											
NAGLU	4669	broad.mit.edu	37	chr17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctggttgacagtgtgGcccagggcatccctttccaa	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	687					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(2059-2061)Gcc>Tcc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						46	43	44					17																	40696083		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40696083G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.2059G>T	17.37:g.40696083G>T	ENSP00000225927:p.Ala687Ser					RP11-400F19.8_ENST00000585572.1_RNA	p.A687S	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2160	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	687						Missense_Mutation	SNP	ENST00000225927.2	37	c.2059G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565416	0.03939	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98585	-5.01	5.03	4.07	0.47477	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.641663	0.15989	N	0.234907	D	0.93314	0.7869	N	0.22421	0.69	0.23546	N	0.997445	P	0.34837	0.472	B	0.31946	0.138	D	0.86859	0.2028	10	0.09338	T	0.73	-17.5316	7.2747	0.26277	0.2614:0.0:0.7386:0.0	.	687	P54802	ANAG_HUMAN	S	687;363	ENSP00000225927:A687S	ENSP00000225927:A687S	A	+	1	0	NAGLU	37949609	0.881000	0.30235	0.838000	0.33150	0.289000	0.27227	1.467000	0.35321	1.274000	0.44362	0.555000	0.69702	GCC		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		35	97	1	0	6.02846e-25	1	6.90604e-25	35	97					T	40696083	G	T	40696083	3	4	79	1	0	0	0	0	1	0	0	0	10184	1203	42	3	2081	3	NAGLU	17	40696083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	40696083	40499127	17321	27638											
HSD17B1	3292	broad.mit.edu	37	chr17	40706547	40706547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaccaatacctcgccCacagcaagcaagtctttcgc	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40706547C>T	ENST00000585807.1	+	5	4384	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	222					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	ATACCTCGCCCACAGCAAGCA	0.657																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(664-666)Cac>Tac		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						61	45	51					17																	40706547		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706547C>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.664C>T	17.37:g.40706547C>T	ENSP00000466799:p.His222Tyr					RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y	p.H222Y	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	4384	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	222					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.664C>T	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522978	0.44866	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.02	3.02	0.34903	NAD(P)-binding domain (1);	0.244344	0.40469	N	0.001096	T	0.54431	0.1858	L	0.31371	0.925	0.36520	D	0.870089	D;B	0.76494	0.999;0.065	D;B	0.64506	0.926;0.018	T	0.59925	-0.7362	9	0.46703	T	0.11	.	9.1585	0.37007	0.0:0.7638:0.2362:0.0	.	253;222	B3RFR9;P14061	.;DHB1_HUMAN	Y	222	.	ENSP00000225929:H222Y	H	+	1	0	HSD17B1	37960073	0.079000	0.21365	0.014000	0.15608	0.003000	0.03518	0.645000	0.24782	0.858000	0.35431	0.491000	0.48974	CAC		0.657	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		5	191	0	0	0	1	0	5	191					T	40706547	C	T	40706547	3	4	79	1	0	0	0	0	1	0	0	0	7408	594	21	2	682	2	HSD17B1	17	40706547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10464	40706547	40488663	17322	27639											
COASY	80347	broad.mit.edu	37	chr17	40714637	40714637	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgtccgcaggcctgggCagcatggccgtattccggtc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40714637C>T	ENST00000393818.2	+	0	453				COASY_ENST00000590958.1_Silent_p.G28G|COASY_ENST00000449624.1_Intron|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000421097.2_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase						cell death (GO:0008219)|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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGGCCTGGGCAGCATGGCCG	0.701																																						ENST00000590958.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(82-84)ggC>ggT		CoA synthase							26	30	28					17																	40714637		2203	4298	6501	SO:0001623	5_prime_UTR_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714637C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.-4C>T	17.37:g.40714637C>T						COASY_ENST00000421097.2_5'UTR|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR	p.G28G			Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	209	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	0					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.84C>T	CCDS11429.1																																																																																				0.701	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		67	247	0	0	0	1	0	67	247					T	40714637	C	T	40714637	1	4	79	0	1	0	0	0	0	0	0	0	3661	697	25	2		2	COASY	17	40714637	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8090	40714637	40480573	17323	27640											
TUBG1	7283	broad.mit.edu	37	chr17	40766320	40766320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcctggatgtcatgaggCggctgctgcagcccaagaac	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40766320C>T	ENST00000251413.3	+	9	948	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	296					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGTCATGAGGCGGCTGCTGCA	0.622																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(886-888)Cgg>Tgg		tubulin, gamma 1							66	63	64					17																	40766320		2203	4298	6501	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766320C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.886C>T	17.37:g.40766320C>T	ENSP00000251413:p.Arg296Trp						p.R296W	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	9	948	+		Breast(137;0.00116)	296					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.886C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734503	0.30774	.	.	ENSG00000131462	ENST00000251413	D	0.85339	-1.97	4.38	-0.343	0.12632	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.97214	3.96	0.58432	D	0.999998	D	0.60575	0.988	P	0.50109	0.631	D	0.94041	0.7309	10	0.87932	D	0	-13.9457	15.5442	0.76081	0.6976:0.3024:0.0:0.0	.	296	P23258	TBG1_HUMAN	W	296	ENSP00000251413:R296W	ENSP00000251413:R296W	R	+	1	2	TUBG1	38019846	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	1.122000	0.31295	-0.163000	0.10946	0.563000	0.77884	CGG		0.622	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	357	0	0	0	1	0	8	357					T	40766320	C	T	40766320	3	4	79	1	0	0	0	0	1	0	0	0	16818	759	27	1	920	1	TUBG1	17	40766320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51683	40766320	40428890	17324	27641											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823517	40823517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgcgtccggcccagcGctttccggatgaagcgcgca	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40823517G>A	ENST00000591022.1	-	8	1523	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A379V|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	379	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCGGCCCAGCGCTTTCCGGAT	0.647																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1135-1137)gCg>gTg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							22	22	22					17																	40823517		2202	4300	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823517G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1136C>T	17.37:g.40823517G>A	ENSP00000468678:p.Ala379Val					PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR	p.A379V			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	8	1566	-		Breast(137;0.00116)	379			MyTH4.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1136C>T	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826876	0.96996	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.92149	-2.98;-2.98	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.95598	0.8569	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96001	0.8993	10	0.62326	D	0.03	-21.402	17.2756	0.87114	0.0:0.0:1.0:0.0	.	379;379	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	41;379;379	ENSP00000293349:A379V;ENSP00000411885:A379V	ENSP00000293349:A379V	A	-	2	0	PLEKHH3	38077043	1.000000	0.71417	0.859000	0.33776	0.972000	0.66771	9.813000	0.99286	2.166000	0.68216	0.561000	0.74099	GCG		0.647	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		7	158	0	0	0	1	0	7	158					A	40823517	G	A	40823517	3	1	79	1	0	0	0	0	1	0	0	0	12120	1087	38	1	1269	1	PLEKHH3	17	40823517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57197	40823517	40371693	17325	27642											
CCR10	2826	broad.mit.edu	37	chr17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccagcagcagggcgaggCtgtagggcagctgcagcacc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000332438.4	-	2	810	c.791G>T	c.(790-792)aGc>aTc	p.S264I	CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.S42I|PLEKHH3_ENST00000591022.1_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	264					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721																																						ENST00000591765.1																			0				lung(1)|ovary(1)|skin(1)	3						c.(124-126)aGc>aTc		chemokine (C-C motif) receptor 10							9	10	10					17																	40831869		2149	4219	6368	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40831869C>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"GPCR / Class A : Chemokine receptors : C-C motif"	4474	protein-coding gene	gene with protein product		600240	"G protein-coupled receptor 2"	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.791G>T	17.37:g.40831869C>A	ENSP00000332504:p.Ser264Ile					CCR10_ENST00000332438.4_Missense_Mutation_p.S264I	p.S42I			P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	1510	-		Breast(137;0.000153)	264					Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.125G>T	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865068	0.71949	.	.	ENSG00000184451	ENST00000332438	T	0.37235	1.21	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.41305	0.1153	L	0.46157	1.445	0.31084	N	0.711548	P	0.47191	0.891	P	0.51266	0.664	T	0.50466	-0.8825	10	0.87932	D	0	.	10.7503	0.46205	0.0:0.6747:0.3253:0.0	.	264	P46092	CCR10_HUMAN	I	264	ENSP00000332504:S264I	ENSP00000332504:S264I	S	-	2	0	CCR10	38085395	0.637000	0.27216	1.000000	0.80357	0.986000	0.74619	0.690000	0.25451	2.192000	0.70111	0.462000	0.41574	AGC		0.721	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		19	92	1	0	2.39187e-15	1	2.61288e-15	19	92					A	40831869	C	A	40831869	3	1	79	1	0	0	0	0	1	0	0	0	2949	797	28	3	301	3	CCR10	17	40831869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8352	40831869	40363341	17326	27643											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctgtgggacgtgttcGccttcagcttcaagaccgag	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	200					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(598-600)Gcc>Acc		contactin associated protein 1							104	87	93					17																	40837321		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837321G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.598G>A	17.37:g.40837321G>A	ENSP00000264638:p.Ala200Thr					CTD-3193K9.3_ENST00000592440.1_RNA	p.A200T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	5	815	+		Breast(137;0.000143)	200						Missense_Mutation	SNP	ENST00000264638.4	37	c.598G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480734	0.63849	.	.	ENSG00000108797	ENST00000264638	T	0.78816	-1.21	5.11	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.284951	0.29466	N	0.012079	T	0.62085	0.2399	L	0.29908	0.895	0.38646	D	0.951717	D	0.53312	0.959	B	0.38225	0.268	T	0.63001	-0.6734	10	0.34782	T	0.22	.	9.6221	0.39727	0.0:0.1434:0.6871:0.1696	.	200	P78357	CNTP1_HUMAN	T	200	ENSP00000264638:A200T	ENSP00000264638:A200T	A	+	1	0	CNTNAP1	38090847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.834000	0.55798	1.069000	0.40788	0.561000	0.74099	GCC		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		93	323	0	0	0	1	0	93	323					A	40837321	G	A	40837321	3	1	79	1	0	0	0	0	1	0	0	0	3655	1087	38	1	616	1	CNTNAP1	17	40837321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5452	40837321	40357889	17327	27644											
VPS25	84313	broad.mit.edu	37	chr17	40926673	40926673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaaccaggaaagcttcCtgtggagtcgatccagattg	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40926673C>A	ENST00000253794.2	+	3	249	c.209C>A	c.(208-210)cCt>cAt	p.P70H		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	70					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GGAAAGCTTCCTGTGGAGTCG	0.453																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(208-210)cCt>cAt		vacuolar protein sorting 25 homolog (S. cerevisiae)							116	111	113					17																	40926673		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40926673C>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.209C>A	17.37:g.40926673C>A	ENSP00000253794:p.Pro70His						p.P70H	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	3	249	+		Breast(137;0.00104)	70					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.209C>A	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789884	0.90367	.	.	ENSG00000131475	ENST00000253794	T	0.44881	0.91	4.92	4.92	0.64577	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.059687	0.64402	D	0.000001	T	0.58481	0.2125	M	0.74881	2.28	0.48830	D	0.999715	D	0.57571	0.98	P	0.53360	0.724	T	0.64597	-0.6370	10	0.66056	D	0.02	-6.362	18.2978	0.90153	0.0:1.0:0.0:0.0	.	70	Q9BRG1	VPS25_HUMAN	H	70	ENSP00000253794:P70H	ENSP00000253794:P70H	P	+	2	0	VPS25	38180199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.964000	0.76061	2.559000	0.86315	0.655000	0.94253	CCT		0.453	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		5	196	1	0	5.9392e-07	1	6.14895e-07	5	196					A	40926673	C	A	40926673	3	1	79	1	0	0	0	0	1	0	0	0	17250	681	24	3	219	3	VPS25	17	40926673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	40926673	40268537	17328	27645											
WNK4	65266	broad.mit.edu	37	chr17	40936549	40936549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccacctctgagtacccGtactccgagtgccagaatgc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGAGTACCCGTACTCCGAGT	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1120-1122)ccG>ccA		WNK lysine deficient protein kinase 4							90	72	78					17																	40936549		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936549G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1122G>A	17.37:g.40936549G>A							p.P374P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	1143	+		Breast(137;0.000143)	374			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1122G>A	CCDS11439.1																																																																																				0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	162	0	0	0	1	0	11	162					A	40936549	G	A	40936549	2	1	79	1	0	0	0	0	0	0	0	1	17434	1132	40	1		1	WNK4	17	40936549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9876	40936549	40258661	17329	27646											
WNK4	65266	broad.mit.edu	37	chr17	40939316	40939316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctgggcttggtctgTgaagccgattaccagccagt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	499					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1495-1497)tgT>tgC		WNK lysine deficient protein kinase 4							50	51	50					17																	40939316		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939316T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1497T>C	17.37:g.40939316T>C						WNK4_ENST00000587705.1_3'UTR	p.C499C	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1518	+		Breast(137;0.000143)	499					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1497T>C	CCDS11439.1																																																																																				0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			39	214	0	0	0	1	0	39	214					C	40939316	T	C	40939316	2	2	79	1	0	0	0	0	0	0	0	1	17434	1702	59	4		4	WNK4	17	40939316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2767	40939316	40255894	17330	27647											
WNK4	65266	broad.mit.edu	37	chr17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagacccccagggaggaatCtccggcgcagaccccgatcc	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	668					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2002-2004)Ctc>Atc		WNK lysine deficient protein kinase 4							46	47	47					17																	40940387		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940387C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2002C>A	17.37:g.40940387C>A	ENSP00000246914:p.Leu668Ile					WNK4_ENST00000587705.1_3'UTR	p.L668I	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	10	2023	+		Breast(137;0.000143)	668					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2002C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368188	0.42003	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.26373	1.74	5.35	4.37	0.52481	.	0.324291	0.22432	N	0.060131	T	0.19927	0.0479	L	0.34521	1.04	0.30195	N	0.799179	B;B;B;B	0.27351	0.11;0.176;0.11;0.11	B;B;B;B	0.26202	0.046;0.067;0.016;0.03	T	0.09207	-1.0685	10	0.20046	T	0.44	-9.3155	14.022	0.64560	0.164:0.836:0.0:0.0	.	12;668;668;668	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	I	668;440;12	ENSP00000246914:L668I	ENSP00000246914:L668I	L	+	1	0	WNK4	38193913	0.214000	0.23563	0.998000	0.56505	0.947000	0.59692	2.077000	0.41557	1.217000	0.43442	-0.425000	0.05940	CTC		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			43	233	1	0	5.20837e-25	1	5.9682e-25	43	233					A	40940387	C	A	40940387	3	1	79	1	0	0	0	0	1	0	0	0	17434	913	32	3	2040	3	WNK4	17	40940387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	40940387	40254823	17331	27648											
WNK4	65266	broad.mit.edu	37	chr17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccctacagagggaaagCcgcagcttgttgggcgtttc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1011					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3031-3033)Ccg>Tcg		WNK lysine deficient protein kinase 4							79	79	79					17																	40947651		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947651C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3031C>T	17.37:g.40947651C>T	ENSP00000246914:p.Pro1011Ser						p.P1011S	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3052	+		Breast(137;0.000143)	1011					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3031C>T	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489984	0.44249	.	.	ENSG00000126562	ENST00000246914	D	0.83075	-1.68	5.75	5.75	0.90469	.	0.000000	0.47455	D	0.000223	D	0.82277	0.5002	L	0.42245	1.32	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.158	D	0.84168	0.0432	10	0.66056	D	0.02	-22.9051	18.1118	0.89538	0.0:1.0:0.0:0.0	.	1011;1011	Q96J92-3;Q96J92	.;WNK4_HUMAN	S	1011	ENSP00000246914:P1011S	ENSP00000246914:P1011S	P	+	1	0	WNK4	38201177	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.574000	0.46016	2.720000	0.93068	0.491000	0.48974	CCG		0.557	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			73	329	0	0	0	1	0	73	329					T	40947651	C	T	40947651	3	4	79	1	0	0	0	0	1	0	0	0	17434	739	26	2	3093	2	WNK4	17	40947651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7264	40947651	40247559	17332	27649											
CNTD1	124817	broad.mit.edu	37	chr17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacgccctgcttcacttgGcccagcagaatgagcaagca	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588408.1	+	1	373	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	33	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(97-99)Gcc>Tcc		cyclin N-terminal domain containing 1							45	43	44					17																	40951182		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40951182G>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.97G>T	17.37:g.40951182G>T	ENSP00000465204:p.Ala33Ser					CNTD1_ENST00000588527.1_Intron	p.A33S	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	373	+		Breast(137;0.00104)	33			Cyclin N-terminal.		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.97G>T	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890450	0.52014	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	5.04	0.67666	Cyclin-like (1);	0.254806	0.39146	N	0.001455	T	0.58552	0.2130	M	0.61703	1.905	0.80722	D	1	B	0.26876	0.162	B	0.18871	0.023	T	0.57219	-0.7849	9	0.37606	T	0.19	-2.1701	15.0029	0.71489	0.0:0.0:0.8574:0.1426	.	33	Q8N815	CNTD1_HUMAN	S	33	.	ENSP00000316647:A33S	A	+	1	0	CNTD1	38204708	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.244000	0.58728	2.629000	0.89072	0.655000	0.94253	GCC		0.632	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		47	226	1	0	3.86236e-30	1	4.52529e-30	47	226					T	40951182	G	T	40951182	3	4	79	1	0	0	0	0	1	0	0	0	3644	1203	42	3	99	3	CNTD1	17	40951182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3531	40951182	40244028	17333	27650											
CNTD1	124817	broad.mit.edu	37	chr17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgagaactccactcccaGtcagctgcaagggtaagaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588408.1	+	5	989	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	238										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(712-714)aGt>aAt		cyclin N-terminal domain containing 1							86	75	79					17																	40958824		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40958824G>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.713G>A	17.37:g.40958824G>A	ENSP00000465204:p.Ser238Asn					CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	p.S238N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	5	989	+		Breast(137;0.00104)	238					Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.713G>A	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598277	0.66332	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.49	4.44	0.53790	.	0.202434	0.53938	D	0.000060	T	0.44891	0.1315	M	0.61703	1.905	0.26487	N	0.97502	P	0.47106	0.89	P	0.45232	0.474	T	0.48198	-0.9056	9	0.59425	D	0.04	-10.6058	12.565	0.56304	0.0:0.1175:0.7473:0.1352	.	238	Q8N815	CNTD1_HUMAN	N	238	.	ENSP00000316647:S238N	S	+	2	0	CNTD1	38212350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.207000	0.32333	2.568000	0.86640	0.557000	0.71058	AGT		0.517	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		49	214	0	0	0	1	0	49	214					A	40958824	G	A	40958824	3	1	79	1	0	0	0	0	1	0	0	0	3644	1029	36	2	731	2	CNTD1	17	40958824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7642	40958824	40236386	17334	27651											
AOC2	314	broad.mit.edu	37	chr17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaggcactggccatcGtcctctttggtggacaaccc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	124					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(370-372)Gtc>Atc		amine oxidase, copper containing 2 (retina-specific)							33	32	32					17																	40997013		2203	4299	6502	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997013G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.370G>A	17.37:g.40997013G>A	ENSP00000253799:p.Val124Ile					AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	397	+		Breast(137;0.000143)	124					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.370G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090357	0.01873	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.35789	1.29;1.29	5.01	2.57	0.30868	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.221172	0.37136	N	0.002238	T	0.14184	0.0343	N	0.05510	-0.035	0.40249	D	0.978047	B;B	0.28820	0.076;0.224	B;B	0.23574	0.03;0.047	T	0.09907	-1.0653	10	0.10902	T	0.67	-53.025	6.7767	0.23624	0.2025:0.1471:0.6504:0.0	.	124;124	O75106;O75106-2	AOC2_HUMAN;.	I	124	ENSP00000253799:V124I;ENSP00000406134:V124I	ENSP00000253799:V124I	V	+	1	0	AOC2	38250539	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	1.953000	0.40352	0.448000	0.26722	-0.253000	0.11424	GTC		0.667	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		84	297	0	0	0	1	0	84	297					A	40997013	G	A	40997013	3	1	79	1	0	0	0	0	1	0	0	0	727	1145	40	1	372	1	AOC2	17	40997013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38189	40997013	40198197	17335	27652											
AOC3	8639	broad.mit.edu	37	chr17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaaggatctttgacGttcgcttccaaggagaaaga	12	9	1	3	rs150410758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	352					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19346	0.001		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1054-1056)Gtt>Att		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	70	68	68		1054	-1.3	0.9	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	AOC3	NM_003734.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	352/764	41004414	3,13003	2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004414G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1054G>A	17.37:g.41004414G>A	ENSP00000312326:p.Val352Ile						p.V352I	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1214	+		Breast(137;0.000143)	352					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1054G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132261	0.06753	6.81E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04360	3.64	4.4	-1.33	0.09172	Copper amine oxidase, C-terminal (3);	0.348573	0.27896	N	0.017406	T	0.01523	0.0049	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49934	-0.8886	10	0.06757	T	0.87	.	5.6195	0.17450	0.5422:0.1375:0.3203:0.0	.	352	Q16853	AOC3_HUMAN	I	352	ENSP00000312326:V352I	ENSP00000312326:V352I	V	+	1	0	AOC3	38257940	0.307000	0.24500	0.895000	0.35142	0.774000	0.43823	0.083000	0.14871	-0.216000	0.10048	0.591000	0.81541	GTT		0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		69	301	0	0	0	1	0	69	301					A	41004414	G	A	41004414	3	1	79	1	0	0	0	0	1	0	0	0	728	1145	40	1	1056	1	AOC3	17	41004414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41004414	40190796	17336	27653											
AOC3	8639	broad.mit.edu	37	chr17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacttcaaggtggatctgGatgtagcaggtaagacattt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	531					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1591-1593)Gat>Aat		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						45	42	43					17																	41004951		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004951G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1591G>A	17.37:g.41004951G>A	ENSP00000312326:p.Asp531Asn						p.D531N	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1751	+		Breast(137;0.000143)	531					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1591G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042693	0.75732	.	.	ENSG00000131471	ENST00000308423	T	0.04502	3.61	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.49607	T	0.09	.	19.2423	0.93888	0.0:0.0:1.0:0.0	.	531	Q16853	AOC3_HUMAN	N	531	ENSP00000312326:D531N	ENSP00000312326:D531N	D	+	1	0	AOC3	38258477	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.821000	0.99360	2.638000	0.89438	0.655000	0.94253	GAT		0.502	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		48	193	0	0	0	1	0	48	193					A	41004951	G	A	41004951	3	1	79	1	0	0	0	0	1	0	0	0	728	1174	41	2	1593	2	AOC3	17	41004951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	41004951	40190259	17337	27654											
AARSD1	80755	broad.mit.edu	37	chr17	41116151	41116151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctcagggaaaagcactGtgtcttccagcaccacttgg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	ENST00000427569.2	-	2	178	c.143C>T	c.(142-144)aCa>aTa	p.T48I	AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	48					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAAAGCACTGTGTCTTCCAG	0.582																																						ENST00000421990.2																			0											c.(664-666)aCa>aTa									124	107	113					17																	41116151		2203	4300	6503	SO:0001583	missense	0							g.chr17:41116151G>A	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.143C>T	17.37:g.41116151G>A	ENSP00000400870:p.Thr48Ile					AARSD1_ENST00000416949.1_5'UTR|AARSD1_ENST00000427569.2_Missense_Mutation_p.T48I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I	p.T222I	NM_001136042.2	NP_001129514.2					7	1010	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.665C>T	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126002|5.126002	0.94429|0.94429	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|D;D;D;D;D	.|0.88586	.|-2.4;-2.4;-2.4;-2.4;-2.4	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.064498	.|0.64402	.|D	.|0.000008	.|D	.|0.96895	.|0.8986	H|H	0.98682|0.98682	4.3|4.3	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.996;0.998;0.998;0.998;1.0	.|D;D;D;D;D	.|0.81914	.|0.943;0.984;0.984;0.979;0.995	.|D	.|0.98556	.|1.0639	.|9	.|0.87932	.|D	.|0	-15.2197|-15.2197	17.5942|17.5942	0.88006|0.88006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;222;131;179;48	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|I	54|161;222;222;48;131	.|ENSP00000353355:T161I;ENSP00000386621:T222I;ENSP00000409924:T222I;ENSP00000400870:T48I;ENSP00000386254:T131I	.|ENSP00000353355:T161I	Q|T	-|-	1|2	0|0	AARSD1|AARSD1	38369677|38369677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	8.878000|8.878000	0.92393|0.92393	2.497000|2.497000	0.84241|0.84241	0.442000|0.442000	0.29010|0.29010	CAG|ACA		0.582	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		87	369	0	0	0	1	0	87	369					A	41116151	G	A	41116151	3	1	79	1	0	0	0	0	1	0	0	0	21	1377	48	2	1139	2	AARSD1	17	41116151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111200	41116151	40079059	17338	27655											
RUNDC1	146923	broad.mit.edu	37	chr17	41141438	41141438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccactgaagagcttcgTcagcgtgtagatgcagcagt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41141438T>C	ENST00000361677.1	+	3	750	c.738T>C	c.(736-738)cgT>cgC	p.R246R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	246										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAGAGCTTCGTCAGCGTGTAG	0.458																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(736-738)cgT>cgC		RUN domain containing 1							109	93	99					17																	41141438		2203	4300	6503	SO:0001819	synonymous_variant	146923							g.chr17:41141438T>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.738T>C	17.37:g.41141438T>C							p.R246R	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	750	+		Breast(137;0.00499)	246					Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.738T>C	CCDS11448.1																																																																																				0.458	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		7	288	0	0	0	1	0	7	288					C	41141438	T	C	41141438	2	2	79	1	0	0	0	0	0	0	0	1	13792	1654	58	4		4	RUNDC1	17	41141438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25287	41141438	40053772	17339	27656											
RUNDC1	146923	broad.mit.edu	37	chr17	41143294	41143294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccttctcctcggccccagAggccatgcacccgtgggagc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41143294A>T	ENST00000361677.1	+	5	1415	c.1403A>T	c.(1402-1404)gAg>gTg	p.E468V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	468	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGGCCCCAGAGGCCATGCAC	0.587																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1402-1404)gAg>gTg		RUN domain containing 1							59	58	58					17																	41143294		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143294A>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1403A>T	17.37:g.41143294A>T	ENSP00000354622:p.Glu468Val						p.E468V	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1415	+		Breast(137;0.00499)	468			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1403A>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879132	0.33162	.	.	ENSG00000198863	ENST00000361677	T	0.18502	2.21	4.92	4.92	0.64577	RUN (2);	0.266944	0.37955	N	0.001880	T	0.06645	0.0170	N	0.08118	0	0.37927	D	0.931873	P	0.38677	0.642	B	0.25614	0.062	T	0.37911	-0.9685	10	0.32370	T	0.25	-24.4041	9.4733	0.38856	0.9171:0.0:0.0829:0.0	.	468	Q96C34	RUND1_HUMAN	V	468	ENSP00000354622:E468V	ENSP00000354622:E468V	E	+	2	0	RUNDC1	38396820	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	3.290000	0.51755	2.062000	0.61559	0.533000	0.62120	GAG		0.587	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		10	360	0	0	0	1	0	10	360					T	41143294	A	T	41143294	3	4	79	1	0	0	0	0	1	0	0	0	13792	304	11	5	1421	5	RUNDC1	17	41143294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	41143294	40051916	17340	27657											
VAT1	10493	broad.mit.edu	37	chr17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacgactttgcccatgGgtttcaggaggttgtagccc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000420567.3	-	4	576	c.431C>A	c.(430-432)cCc>cAc	p.P144H	VAT1_ENST00000587173.1_Missense_Mutation_p.P210H|VAT1_ENST00000355653.3_Missense_Mutation_p.P278H			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTTGCCCATGGGTTTCAGGAG	0.547																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(832-834)cCc>cAc		vesicle amine transport 1							109	93	98					17																	41169881		2203	4300	6503	SO:0001583	missense	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41169881G>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"vesicle amine transport protein 1 homolog (T. californica)"			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.431C>A	17.37:g.41169881G>T	ENSP00000408553:p.Pro144His					VAT1_ENST00000420567.3_Missense_Mutation_p.P144H|VAT1_ENST00000587173.1_Missense_Mutation_p.P210H	p.P278H	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	928	-		Breast(137;0.000717)	278					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000420567.3	37	c.833C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.588434	0.86851	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.04706	3.57;3.57	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.050173	0.85682	D	0.000000	T	0.24661	0.0598	M	0.84585	2.705	0.80722	D	1	D;D	0.56746	0.977;0.976	P;D	0.66979	0.679;0.948	T	0.01692	-1.1294	10	0.30854	T	0.27	-4.7138	19.1326	0.93413	0.0:0.0:1.0:0.0	.	210;278	B4DPX4;Q99536	.;VAT1_HUMAN	H	278;185;144	ENSP00000347872:P278H;ENSP00000408553:P144H	ENSP00000347872:P278H	P	-	2	0	VAT1	38423407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.515000	0.84797	0.462000	0.41574	CCC		0.547	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	NM_006373		45	225	1	0	1.62957e-23	1	1.85347e-23	45	225					T	41169881	G	T	41169881	3	4	79	1	0	0	0	0	1	0	0	0	17183	1232	43	3	360	3	VAT1	17	41169881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26587	41169881	40025329	17341	27658											
BRCA1	672	broad.mit.edu	37	chr17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatggtatgttgccaAcacgagctgactctggggct	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000357654.3	-	15	4887	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1590					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATGTTGCCAACACGAGCTGA	0.488			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3880-3882)gTt>gCt	Homologous recombination	breast cancer 1, early onset							134	133	133					17																	41223162		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41223162A>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4769T>C	17.37:g.41223162A>G	ENSP00000350283:p.Val1590Ala	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000357654.3_Missense_Mutation_p.V1590A	p.V1294A	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	4908	-		Breast(137;0.000717)	1590					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3881T>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.073954	0.20147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.91407	-2.46;-2.52;-2.58;-2.36;-2.62;-2.84;-2.58;-2.43;-2.35;-2.58	4.56	2.26	0.28386	.	0.779810	0.11235	N	0.585222	T	0.81173	0.4767	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.29612	0.001;0.103;0.001;0.251;0.001;0.001;0.0;0.003	B;B;B;B;B;B;B;B	0.24269	0.003;0.031;0.003;0.052;0.003;0.003;0.001;0.008	T	0.70200	-0.4937	10	0.54805	T	0.06	.	4.7124	0.12879	0.7079:0.1919:0.1003:0.0	.	486;439;485;487;486;1612;1590;1590	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	A	1590;1611;448;407;1294;486;439;1612;1543;485;486;361;440	ENSP00000350283:V1590A;ENSP00000312236:V448A;ENSP00000338007:V407A;ENSP00000310938:V1294A;ENSP00000417148:V486A;ENSP00000377294:V439A;ENSP00000418775:V1543A;ENSP00000420412:V486A;ENSP00000419481:V361A;ENSP00000418819:V440A	ENSP00000310938:V1294A	V	-	2	0	BRCA1	38476688	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.225000	0.17757	0.331000	0.23511	-0.411000	0.06167	GTT		0.488	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		124	616	0	0	0	1	0	124	616					G	41223162	A	G	41223162	3	3	79	1	0	0	0	0	1	0	0	0	1502	43	2	4	858	4	BRCA1	17	41223162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53281	41223162	39972048	17342	27659											
BRCA1	672	broad.mit.edu	37	chr17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttatgttggctccttgCtaagccaggctgtttgcttt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000357654.3	-	10	1058	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	314					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:00001